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	newbase	end	tum_allele1	tum_allele2	start	effect_idx	newbase_idx	pat_idx	is_coding	is_flank	is_indel	is_ins	is_del	is_missense	is_nonsense	is_splice	is_silent	gene_idx	context_and_effect	context65	categ_idx	trackpos	categ	gene	chr	pos	type	classification	ref_allele	patient	DistBetween_Mutations	Distance_to_LT_end	Distance_to_RT_end	Strain_Mutation_ID	Dataset_Mutation_ID	Complex_ID	Complex_Size	StrainCluster_ID	Dataset_Cluster_ID	Distance_Between_Clusters	Cluster_Size_Mutations	Cluster_Size_Complexes	Cluster_Length	Cluster_Coordination	Content_of_non_coordinated_cluster	Cluster_Pvalue
TTLL7	79739	broad.mit.edu	37	1	84356051	84356051	+	Silent	SNP	T	T	C			TCGA-CS-4938-01B-11D-1893-08	TCGA-CS-4938-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2ec659e-22b1-4ff3-ad03-770c74414e05	4db52c00-aa66-48f7-b32b-1c2ec0dec7f5	g.chr1:84356051T>C	ENST00000260505.8	-	19	2699	c.2322A>G	c.(2320-2322)ttA>ttG	p.L774L	TTLL7_ENST00000477524.1_5'UTR	NM_024686.4	NP_078962.4	Q6ZT98	TTLL7_HUMAN	tubulin tyrosine ligase-like family, member 7	774					cell differentiation|nervous system development|protein modification process	cilium|dendrite|microtubule basal body|perikaryon	tubulin-tyrosine ligase activity			kidney(1)|large_intestine(8)|lung(15)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29				all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16)		GACTCCAGAGTAAGCGATTAA	0.378													27	31					0	0	0.010818	0	0	C	84356051	T	C	84356051	2	2	1	1	0	0	0	0	0	0	0	1	16794	1635	57	3		3	TTLL7	1	84356051	Silent	SNP	T	TCGA-CS-4938-01B-11D-1893-08		84356051	164894570	1	1											
ANXA9	8416	broad.mit.edu	37	1	150955565	150955565	+	Splice_Site	SNP	G	G	A			TCGA-CS-4938-01B-11D-1893-08	TCGA-CS-4938-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2ec659e-22b1-4ff3-ad03-770c74414e05	4db52c00-aa66-48f7-b32b-1c2ec0dec7f5	g.chr1:150955565G>A	ENST00000368947.4	+	3	460		c.e3-1		ANXA9_ENST00000474997.1_Intron	NM_003568.2	NP_003559.2	O76027	ANXA9_HUMAN	annexin A9						cell-cell adhesion	cell surface|cytosol	acetylcholine receptor activity|calcium ion binding|calcium-dependent phospholipid binding|phosphatidylserine binding|protein homodimerization activity			endometrium(1)|large_intestine(1)|lung(4)|skin(2)	8	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			TCCTTCCCCAGGGCAACCAGT	0.622													5	69					0	0	0.001984	0	0	A	150955565	G	A	150955565	5	1	1	1	0	0	0	0	0	0	1	0	721	1014	35	2		2	ANXA9	1	150955565	Splice_Site	SNP	G	TCGA-CS-4938-01B-11D-1893-08	66599514	150955565	98295056	2	2											
TPO	7173	broad.mit.edu	37	2	1499888	1499888	+	Missense_Mutation	SNP	G	G	A			TCGA-CS-4938-01B-11D-1893-08	TCGA-CS-4938-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2ec659e-22b1-4ff3-ad03-770c74414e05	4db52c00-aa66-48f7-b32b-1c2ec0dec7f5	g.chr2:1499888G>A	ENST00000345913.4	+	12	2225	c.2134G>A	c.(2134-2136)Ggc>Agc	p.G712S	TPO_ENST00000349624.3_Missense_Mutation_p.G539S|TPO_ENST00000382198.1_Missense_Mutation_p.G539S|TPO_ENST00000497517.2_Intron|TPO_ENST00000346956.3_Missense_Mutation_p.G712S|TPO_ENST00000337415.3_Missense_Mutation_p.G712S|TPO_ENST00000329066.4_Missense_Mutation_p.G712S|TPO_ENST00000382201.3_Missense_Mutation_p.G655S	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	712					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	CTTCCAAGTCGGCAAATTCCC	0.562													7	42					0	0	0.010729	0	0	A	1499888	G	A	1499888	3	1	1	1	0	0	0	0	1	0	0	0	16471	1116	39	1	2176	1	TPO	2	1499888	Missense_Mutation	SNP	G	TCGA-CS-4938-01B-11D-1893-08		1499888	241699485	3	3											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-CS-4938-01B-11D-1893-08	TCGA-CS-4938-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2ec659e-22b1-4ff3-ad03-770c74414e05	4db52c00-aa66-48f7-b32b-1c2ec0dec7f5	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								25	44					0	0	0.00632	0	0	T	209113112	C	T	209113112	3	4	1	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-CS-4938-01B-11D-1893-08	207613224	209113112	34086261	4	4											
APPL1	26060	broad.mit.edu	37	3	57291436	57291436	+	Silent	SNP	A	A	G			TCGA-CS-4938-01B-11D-1893-08	TCGA-CS-4938-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2ec659e-22b1-4ff3-ad03-770c74414e05	4db52c00-aa66-48f7-b32b-1c2ec0dec7f5	g.chr3:57291436A>G	ENST00000288266.3	+	15	1557	c.1410A>G	c.(1408-1410)aaA>aaG	p.K470K		NM_012096.2	NP_036228.1	Q9UKG1	DP13A_HUMAN	adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1	470					apoptosis|cell cycle|cell proliferation|insulin receptor signaling pathway|regulation of apoptosis|regulation of establishment of protein localization in plasma membrane|regulation of glucose import	cytosol|early endosome membrane|microsome|nucleus|vesicle membrane	protein kinase B binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(10)|liver(2)|lung(4)|prostate(2)	27				KIRC - Kidney renal clear cell carcinoma(284;0.0124)|Kidney(284;0.0144)		GCCAGGCAAAAGCCTTTGGCC	0.493													3	98					0	0	0.004672	0	0	G	57291436	A	G	57291436	2	3	1	1	0	0	0	0	0	0	0	1	814	69	3	3		3	APPL1	3	57291436	Silent	SNP	A	TCGA-CS-4938-01B-11D-1893-08		57291436	140730994	5	5											
LEPREL1	55214	broad.mit.edu	37	3	189705423	189705423	+	Missense_Mutation	SNP	C	C	A			TCGA-CS-4938-01B-11D-1893-08	TCGA-CS-4938-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2ec659e-22b1-4ff3-ad03-770c74414e05	4db52c00-aa66-48f7-b32b-1c2ec0dec7f5	g.chr3:189705423C>A	ENST00000319332.5	-	5	1188	c.991G>T	c.(991-993)Gcc>Tcc	p.A331S	LEPREL1_ENST00000427335.2_Missense_Mutation_p.A150S	NM_018192.3	NP_060662.2	Q8IVL5	P3H2_HUMAN	leprecan-like 1	331					collagen metabolic process|negative regulation of cell proliferation|peptidyl-proline hydroxylation	basement membrane|endoplasmic reticulum|Golgi apparatus	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(5)	41	all_cancers(143;4.01e-10)|Ovarian(172;0.0925)		Lung(62;4.35e-05)	GBM - Glioblastoma multiforme(93;0.02)	L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	AGAAGATAGGCTTTGGCACAC	0.468													25	92					8.58068e-18	1.24194e-17	0.007291	1	0	A	189705423	C	A	189705423	3	1	1	1	0	0	0	0	1	0	0	0	8769	797	28	4	1179	4	LEPREL1	3	189705423	Missense_Mutation	SNP	C	TCGA-CS-4938-01B-11D-1893-08	132413987	189705423	8317007	6	6											
FGF5	2250	broad.mit.edu	37	4	81207632	81207632	+	Missense_Mutation	SNP	C	C	G			TCGA-CS-4938-01B-11D-1893-08	TCGA-CS-4938-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2ec659e-22b1-4ff3-ad03-770c74414e05	4db52c00-aa66-48f7-b32b-1c2ec0dec7f5	g.chr4:81207632C>G	ENST00000312465.7	+	3	839	c.613C>G	c.(613-615)Cgg>Ggg	p.R205G	FGF5_ENST00000456523.3_3'UTR|FGF5_ENST00000503413.1_3'UTR	NM_004464.3	NP_004455.2	P12034	FGF5_HUMAN	fibroblast growth factor 5	205					cell proliferation|cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell division|positive regulation of cell proliferation	extracellular space	fibroblast growth factor receptor binding|growth factor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22						GTGCAGCCCCCGGGTTAAACC	0.463													49	88					0	0	0.01441	0	0	G	81207632	C	G	81207632	3	3	1	1	0	0	0	0	1	0	0	0	5888	643	23	5	623	5	FGF5	4	81207632	Missense_Mutation	SNP	C	TCGA-CS-4938-01B-11D-1893-08		81207632	109946644	7	7											
ENPEP	2028	broad.mit.edu	37	4	111441429	111441429	+	Missense_Mutation	SNP	C	C	G			TCGA-CS-4938-01B-11D-1893-08	TCGA-CS-4938-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2ec659e-22b1-4ff3-ad03-770c74414e05	4db52c00-aa66-48f7-b32b-1c2ec0dec7f5	g.chr4:111441429C>G	ENST00000265162.5	+	10	1976	c.1634C>G	c.(1633-1635)cCt>cGt	p.P545R		NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	545					cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)	ATGGGTTATCCTGTGCTTAAC	0.428													34	36					0	0	0.013726	0	0	G	111441429	C	G	111441429	3	3	1	1	0	0	0	0	1	0	0	0	5156	681	24	4	1672	4	ENPEP	4	111441429	Missense_Mutation	SNP	C	TCGA-CS-4938-01B-11D-1893-08	30233797	111441429	79712847	8	8											
ADAD1	132612	broad.mit.edu	37	4	123336616	123336616	+	Silent	SNP	A	A	T			TCGA-CS-4938-01B-11D-1893-08	TCGA-CS-4938-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2ec659e-22b1-4ff3-ad03-770c74414e05	4db52c00-aa66-48f7-b32b-1c2ec0dec7f5	g.chr4:123336616A>T	ENST00000296513.2	+	11	1517	c.1332A>T	c.(1330-1332)ccA>ccT	p.P444P	ADAD1_ENST00000388724.2_Silent_p.P433P|ADAD1_ENST00000388725.2_Silent_p.P426P	NM_139243.3	NP_640336.1	Q96M93	ADAD1_HUMAN	adenosine deaminase domain containing 1 (testis-specific)	444	A to I editase.				multicellular organismal development|RNA processing	nucleus	adenosine deaminase activity|double-stranded RNA binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	35						CAAAACTTCCAATGTTTTACT	0.378													62	101					0	0	0.01441	0	0	T	123336616	A	T	123336616	2	4	1	1	0	0	0	0	0	0	0	1	230	117	5	5		5	ADAD1	4	123336616	Silent	SNP	A	TCGA-CS-4938-01B-11D-1893-08	11895187	123336616	67817660	9	9											
TKTL2	84076	broad.mit.edu	37	4	164393959	164393959	+	Missense_Mutation	SNP	G	G	C			TCGA-CS-4938-01B-11D-1893-08	TCGA-CS-4938-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2ec659e-22b1-4ff3-ad03-770c74414e05	4db52c00-aa66-48f7-b32b-1c2ec0dec7f5	g.chr4:164393959G>C	ENST00000280605.3	-	1	1088	c.928C>G	c.(928-930)Cca>Gca	p.P310A		NM_032136.4	NP_115512.3	Q9H0I9	TKTL2_HUMAN	transketolase-like 2	310						cytoplasm	metal ion binding|transketolase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				taagcaggtggggaggtcatt	0.408													13	205					0	0	0.00245	0	0	C	164393959	G	C	164393959	3	2	1	1	0	0	0	0	1	0	0	0	15996	1232	43	5	956	5	TKTL2	4	164393959	Missense_Mutation	SNP	G	TCGA-CS-4938-01B-11D-1893-08	41057343	164393959	26760317	10	10											
TRERF1	55809	broad.mit.edu	37	6	42196227	42196227	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CS-4938-01B-11D-1893-08	TCGA-CS-4938-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2ec659e-22b1-4ff3-ad03-770c74414e05	4db52c00-aa66-48f7-b32b-1c2ec0dec7f5	g.chr6:42196227delG	ENST00000541110.1	-	18	4087	c.3519delC	c.(3517-3519)atcfs	p.I1173fs	TRERF1_ENST00000372917.4_Frame_Shift_Del_p.I1082fs|TRERF1_ENST00000340840.2_Frame_Shift_Del_p.I1082fs|TRERF1_ENST00000372922.4_Frame_Shift_Del_p.I1153fs|TRERF1_ENST00000354325.2_Frame_Shift_Del_p.I1070fs			Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	1153	Interacts with CREBBP.				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			TGATGGGTTTGATCAGACTCA	0.602													7	400	---	---	---	---						-	42196227	G	-	42196227	7	5	1	1	0	1	0	1	0	0	0	0	16536	1280	45	0	147	0	TRERF1	6	42196227	Frame_Shift_Del	DEL	G	TCGA-CS-4938-01B-11D-1893-08		42196227	128918840	11	11											
NFE2L3	9603	broad.mit.edu	37	7	26224962	26224962	+	Silent	SNP	T	T	C			TCGA-CS-4938-01B-11D-1893-08	TCGA-CS-4938-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2ec659e-22b1-4ff3-ad03-770c74414e05	4db52c00-aa66-48f7-b32b-1c2ec0dec7f5	g.chr7:26224962T>C	ENST00000056233.3	+	4	1903	c.1644T>C	c.(1642-1644)ccT>ccC	p.P548P		NM_004289.6	NP_004280.5	Q9Y4A8	NF2L3_HUMAN	nuclear factor, erythroid 2-like 3	548					transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(5)|urinary_tract(7)	29						TGCATATCCCTTTTTCTGTAG	0.418													3	143					0	0	0.004672	0	0	C	26224962	T	C	26224962	2	2	1	1	0	0	0	0	0	0	0	1	10416	1596	56	3		3	NFE2L3	7	26224962	Silent	SNP	T	TCGA-CS-4938-01B-11D-1893-08		26224962	132913701	12	12											
ADAM22	53616	broad.mit.edu	37	7	87757957	87757957	+	Missense_Mutation	SNP	A	A	G			TCGA-CS-4938-01B-11D-1893-08	TCGA-CS-4938-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2ec659e-22b1-4ff3-ad03-770c74414e05	4db52c00-aa66-48f7-b32b-1c2ec0dec7f5	g.chr7:87757957A>G	ENST00000398204.4	+	9	1042	c.719A>G	c.(718-720)tAc>tGc	p.Y240C	ADAM22_ENST00000398201.4_Missense_Mutation_p.Y240C|ADAM22_ENST00000398209.3_Missense_Mutation_p.Y240C|ADAM22_ENST00000265727.7_Missense_Mutation_p.Y240C|ADAM22_ENST00000439864.1_Missense_Mutation_p.Y240C|ADAM22_ENST00000315984.7_Missense_Mutation_p.Y240C	NM_016351.4|NM_021723.3	NP_057435.2|NP_068369.1	Q9P0K1	ADA22_HUMAN	ADAM metallopeptidase domain 22	240	Peptidase M12B.				cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis	integral to membrane	integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding			endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3)	53	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)			GAAACCAAATACATTGAACTG	0.403													12	117					0	0	0.003163	0	0	G	87757957	A	G	87757957	3	3	1	1	0	0	0	0	1	0	0	0	243	391	14	3	753	3	ADAM22	7	87757957	Missense_Mutation	SNP	A	TCGA-CS-4938-01B-11D-1893-08	61532995	87757957	71380706	13	13											
ARHGAP22	58504	broad.mit.edu	37	10	49791051	49791051	+	Silent	SNP	G	G	A			TCGA-CS-4938-01B-11D-1893-08	TCGA-CS-4938-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2ec659e-22b1-4ff3-ad03-770c74414e05	4db52c00-aa66-48f7-b32b-1c2ec0dec7f5	g.chr10:49791051G>A	ENST00000249601.4	-	2	477	c.181C>T	c.(181-183)Ctg>Ttg	p.L61L	ARHGAP22_ENST00000491108.1_5'UTR|ARHGAP22_ENST00000417912.2_Silent_p.L61L|ARHGAP22_ENST00000435790.2_Silent_p.L67L	NM_001256024.1|NM_021226.3	NP_001242953.1|NP_067049.2	Q7Z5H3	RHG22_HUMAN	Rho GTPase activating protein 22	61	PH.				angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol|nucleus	GTPase activator activity			endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						TCCCCACGCAGCACAAACCAG	0.607													4	226					0	0	0.000602	0	0	A	49791051	G	A	49791051	2	1	1	1	0	0	0	0	0	0	0	1	869	962	34	2		2	ARHGAP22	10	49791051	Silent	SNP	G	TCGA-CS-4938-01B-11D-1893-08		49791051	85743696	14	14											
MRGPRX4	117196	broad.mit.edu	37	11	18195379	18195379	+	Silent	SNP	T	T	C			TCGA-CS-4938-01B-11D-1893-08	TCGA-CS-4938-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2ec659e-22b1-4ff3-ad03-770c74414e05	4db52c00-aa66-48f7-b32b-1c2ec0dec7f5	g.chr11:18195379T>C	ENST00000314254.3	+	1	996	c.576T>C	c.(574-576)tgT>tgC	p.C192C	RP11-113D6.6_ENST00000527671.1_Intron	NM_054032.3	NP_473373.2	Q96LA9	MRGX4_HUMAN	MAS-related GPR, member X4	192						integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						TGGTTCTCTGTGTTTCCAGCC	0.522													5	157					0	0	0.000602	0	0	C	18195379	T	C	18195379	2	2	1	1	0	0	0	0	0	0	0	1	9818	1702	59	3		3	MRGPRX4	11	18195379	Silent	SNP	T	TCGA-CS-4938-01B-11D-1893-08		18195379	116811137	15	15											
PUS7L	83448	broad.mit.edu	37	12	44149037	44149037	+	Silent	SNP	A	A	G			TCGA-CS-4938-01B-11D-1893-08	TCGA-CS-4938-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2ec659e-22b1-4ff3-ad03-770c74414e05	4db52c00-aa66-48f7-b32b-1c2ec0dec7f5	g.chr12:44149037A>G	ENST00000416848.2	-	2	500	c.12T>C	c.(10-12)gaT>gaC	p.D4D	PUS7L_ENST00000344862.5_Silent_p.D4D|PUS7L_ENST00000551923.1_Silent_p.D4D|PUS7L_ENST00000553166.1_Silent_p.D4D|PUS7L_ENST00000431332.3_Intron	NM_001098615.1|NM_001271826.1	NP_001092085.1|NP_001258755.1	Q9H0K6	PUS7L_HUMAN	pseudouridylate synthase 7 homolog (S. cerevisiae)-like	4					pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding			NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(15)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	all_cancers(12;0.00027)	Lung NSC(34;0.114)|all_lung(34;0.24)		GBM - Glioblastoma multiforme(48;0.0402)		TATAATCTGTATCTTCTTCCA	0.333													5	28					0	0	0.000602	0	0	G	44149037	A	G	44149037	2	3	1	1	0	0	0	0	0	0	0	1	12886	446	16	3		3	PUS7L	12	44149037	Silent	SNP	A	TCGA-CS-4938-01B-11D-1893-08		44149037	89702858	16	16											
ATP2C2	9914	broad.mit.edu	37	16	84476138	84476138	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-4938-01B-11D-1893-08	TCGA-CS-4938-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2ec659e-22b1-4ff3-ad03-770c74414e05	4db52c00-aa66-48f7-b32b-1c2ec0dec7f5	g.chr16:84476138C>T	ENST00000416219.2	+	15	1423	c.1334C>T	c.(1333-1335)gCg>gTg	p.A445V	ATP2C2_ENST00000420010.2_3'UTR|ATP2C2_ENST00000262429.4_Missense_Mutation_p.A445V			O75185	AT2C2_HUMAN	ATPase, Ca++ transporting, type 2C, member 2	445					ATP biosynthetic process	Golgi membrane|integral to membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						GCCAACAATGCGGTCATCAGA	0.552													8	363					0	0	0.008291	0	0	T	84476138	C	T	84476138	3	4	1	1	0	0	0	0	1	0	0	0	1143	768	27	1	1392	1	ATP2C2	16	84476138	Missense_Mutation	SNP	C	TCGA-CS-4938-01B-11D-1893-08		84476138	5878615	17	17											
PRPF8	10594	broad.mit.edu	37	17	1577065	1577065	+	Missense_Mutation	SNP	G	G	A			TCGA-CS-4938-01B-11D-1893-08	TCGA-CS-4938-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2ec659e-22b1-4ff3-ad03-770c74414e05	4db52c00-aa66-48f7-b32b-1c2ec0dec7f5	g.chr17:1577065G>A	ENST00000572621.1	-	21	3686	c.3421C>T	c.(3421-3423)Cgc>Tgc	p.R1141C	PRPF8_ENST00000304992.6_Missense_Mutation_p.R1141C			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	1141						catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		TTCATGAGGCGCATGCGGGCA	0.517													5	159					0	0	0.001168	0	0	A	1577065	G	A	1577065	3	1	1	1	0	0	0	0	1	0	0	0	12627	1087	38	1	3674	1	PRPF8	17	1577065	Missense_Mutation	SNP	G	TCGA-CS-4938-01B-11D-1893-08		1577065	79618145	18	18											
TP53	7157	broad.mit.edu	37	17	7577539	7577539	+	Missense_Mutation	SNP	G	G	A	rs121912651		TCGA-CS-4938-01B-11D-1893-08	TCGA-CS-4938-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2ec659e-22b1-4ff3-ad03-770c74414e05	4db52c00-aa66-48f7-b32b-1c2ec0dec7f5	g.chr17:7577539G>A	ENST00000420246.2	-	7	874	c.742C>T	c.(742-744)Cgg>Tgg	p.R248W	TP53_ENST00000455263.2_Missense_Mutation_p.R248W|TP53_ENST00000359597.4_Missense_Mutation_p.R248W|TP53_ENST00000445888.2_Missense_Mutation_p.R248W|TP53_ENST00000269305.4_Missense_Mutation_p.R248W|TP53_ENST00000413465.2_Missense_Mutation_p.R248W	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	248	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R248W(544)|p.R155W(28)|p.R248G(12)|p.0?(8)|p.?(5)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.N247_R248>KW(2)|p.M246_P250delMNRRP(2)|p.R248fs*97(2)|p.R248R(2)|p.R248fs*>39(1)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(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)		ATGGGCCTCCGGTTCATGCCG	0.577	R248W(786O_KIDNEY)|R248W(CAS1_CENTRAL_NERVOUS_SYSTEM)|R248W(COLO320_LARGE_INTESTINE)|R248W(COLO680N_OESOPHAGUS)|R248W(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(GCT_SOFT_TISSUE)|R248W(HCC2157_BREAST)|R248W(JIMT1_BREAST)|R248W(KO52_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(LUDLU1_LUNG)|R248W(LXF289_LUNG)|R248W(MIAPACA2_PANCREAS)|R248W(RD_SOFT_TISSUE)|R248W(SW837_LARGE_INTESTINE)|R248W(VCAP_PROSTATE)	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)			75	17					0	0	0.01441	0	0	A	7577539	G	A	7577539	3	1	1	1	0	0	0	0	1	0	0	0	16442	1115	39	1	548	1	TP53	17	7577539	Missense_Mutation	SNP	G	TCGA-CS-4938-01B-11D-1893-08	6000474	7577539	73617671	19	19											
C3	718	broad.mit.edu	37	19	6686853	6686853	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CS-4938-01B-11D-1893-08	TCGA-CS-4938-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2ec659e-22b1-4ff3-ad03-770c74414e05	4db52c00-aa66-48f7-b32b-1c2ec0dec7f5	g.chr19:6686853G>A	ENST00000245907.6	-	28	3642	c.3550C>T	c.(3550-3552)Cag>Tag	p.Q1184*		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	1184					complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		TAGGATCTCTGTAGGTTCATG	0.512													21	119					0	0	0.010504	0	0	A	6686853	G	A	6686853	4	1	1	1	0	0	0	0	0	1	0	0	2218	1386	48	2	1497	2	C3	19	6686853	Nonsense_Mutation	SNP	G	TCGA-CS-4938-01B-11D-1893-08		6686853	52442130	20	20											
KLK10	5655	broad.mit.edu	37	19	51518742	51518742	+	Silent	SNP	G	G	A			TCGA-CS-4938-01B-11D-1893-08	TCGA-CS-4938-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2ec659e-22b1-4ff3-ad03-770c74414e05	4db52c00-aa66-48f7-b32b-1c2ec0dec7f5	g.chr19:51518742G>A	ENST00000309958.3	-	5	827	c.609C>T	c.(607-609)gtC>gtT	p.V203V	KLK10_ENST00000358789.3_Silent_p.V203V|KLK10_ENST00000391805.1_Silent_p.V203V	NM_002776.4	NP_002767.2	O43240	KLK10_HUMAN	kallikrein-related peptidase 10	203	Peptidase S1.				cell cycle|proteolysis	extracellular region	serine-type endopeptidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	13		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00885)		CAGGGTAGAAGACCTCACACT	0.552													111	220					0	0	0.01441	0	0	A	51518742	G	A	51518742	2	1	1	1	0	0	0	0	0	0	0	1	8441	929	33	2		2	KLK10	19	51518742	Silent	SNP	G	TCGA-CS-4938-01B-11D-1893-08	44831889	51518742	7610241	21	21											
BAGE2	85319	broad.mit.edu	37	21	11047523	11047523	+	RNA	SNP	T	T	C			TCGA-CS-4938-01B-11D-1893-08	TCGA-CS-4938-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2ec659e-22b1-4ff3-ad03-770c74414e05	4db52c00-aa66-48f7-b32b-1c2ec0dec7f5	g.chr21:11047523T>C	ENST00000470054.1	-	0	731									B melanoma antigen family, member 2															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)		TCATAATTCGTTGAAGACAAA	0.353													5	468					0	0	0.001168	0	0	C	11047523	T	C	11047523	1	2	1	0	1	0	0	0	0	0	0	0	1290	1740	60	3		3	BAGE2	21	11047523	RNA	SNP	T	TCGA-CS-4938-01B-11D-1893-08		11047523	37082372	22	22											
SLC5A1	6523	broad.mit.edu	37	22	32498215	32498215	+	Silent	SNP	G	G	A			TCGA-CS-4938-01B-11D-1893-08	TCGA-CS-4938-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2ec659e-22b1-4ff3-ad03-770c74414e05	4db52c00-aa66-48f7-b32b-1c2ec0dec7f5	g.chr22:32498215G>A	ENST00000266088.4	+	13	1906	c.1656G>A	c.(1654-1656)ccG>ccA	p.P552P	SLC5A1_ENST00000543737.1_Silent_p.P425P	NM_000343.3	NP_000334.1	P13866	SC5A1_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 1	552					carbohydrate metabolic process	integral to plasma membrane	glucose:sodium symporter activity|protein binding	p.P552P(1)		NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	37						AACCCATTCCGGATGTGCATG	0.403													7	209					0	0	0.004482	0	0	A	32498215	G	A	32498215	2	1	1	1	0	0	0	0	0	0	0	1	14716	1103	39	1		1	SLC5A1	22	32498215	Silent	SNP	G	TCGA-CS-4938-01B-11D-1893-08		32498215	18806351	23	23											
RPS19BP1	91582	broad.mit.edu	37	22	39925565	39925565	+	Missense_Mutation	SNP	T	T	C	rs138779327	by1000genomes	TCGA-CS-4938-01B-11D-1893-08	TCGA-CS-4938-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2ec659e-22b1-4ff3-ad03-770c74414e05	4db52c00-aa66-48f7-b32b-1c2ec0dec7f5	g.chr22:39925565T>C	ENST00000334678.3	-	4	459	c.343A>G	c.(343-345)Aag>Gag	p.K115E		NM_194326.2	NP_919307.1	Q86WX3	AROS_HUMAN	ribosomal protein S19 binding protein 1	115						nucleolus|nucleoplasm				endometrium(1)|kidney(1)|large_intestine(1)	3	Melanoma(58;0.04)					CCCTCAGCCTTCTTCTTCTTG	0.607											OREG0026578	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	121					0	0	0.004672	0	0	C	39925565	T	C	39925565	3	2	1	1	0	0	0	0	1	0	0	0	13682	1792	62	3	71	3	RPS19BP1	22	39925565	Missense_Mutation	SNP	T	TCGA-CS-4938-01B-11D-1893-08	7427350	39925565	11379001	24	24											
ATRX	546	broad.mit.edu	37	X	76939674	76939674	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CS-4938-01B-11D-1893-08	TCGA-CS-4938-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2ec659e-22b1-4ff3-ad03-770c74414e05	4db52c00-aa66-48f7-b32b-1c2ec0dec7f5	g.chrX:76939674delT	ENST00000373344.5	-	9	1288	c.1074delA	c.(1072-1074)aaafs	p.K358fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.K320fs	NM_000489.3	NP_000480.3	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)	TCTCAATCAGTTTTTTTGCCT	0.368			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						100	144	---	---	---	---						-	76939674	T	-	76939674	7	5	1	1	0	1	0	1	0	0	0	0	1206	1722	60	0	6512	0	ATRX	23	76939674	Frame_Shift_Del	DEL	T	TCGA-CS-4938-01B-11D-1893-08		76939674	78330886	25	25											
ACTRT1	139741	broad.mit.edu	37	X	127186136	127186136	+	Missense_Mutation	SNP	C	C	A			TCGA-CS-4938-01B-11D-1893-08	TCGA-CS-4938-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2ec659e-22b1-4ff3-ad03-770c74414e05	4db52c00-aa66-48f7-b32b-1c2ec0dec7f5	g.chrX:127186136C>A	ENST00000371124.3	-	1	246	c.50G>T	c.(49-51)gGt>gTt	p.G17V		NM_138289.3	NP_612146.1	Q8TDG2	ACTT1_HUMAN	actin-related protein T1	17						cytoplasm|cytoskeleton				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	34						GAGTCCTGAACCATTGTCAAA	0.433													40	64					2.87052e-16	4.04817e-16	0.005524	1	0	A	127186136	C	A	127186136	3	1	1	1	0	0	0	0	1	0	0	0	217	507	18	5	1084	5	ACTRT1	23	127186136	Missense_Mutation	SNP	C	TCGA-CS-4938-01B-11D-1893-08	50246462	127186136	28084424	26	26											
ZNF185	7739	broad.mit.edu	37	X	152083048	152083048	+	Silent	SNP	T	T	C			TCGA-CS-4938-01B-11D-1893-08	TCGA-CS-4938-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2ec659e-22b1-4ff3-ad03-770c74414e05	4db52c00-aa66-48f7-b32b-1c2ec0dec7f5	g.chrX:152083048T>C	ENST00000535861.1	+	1	63	c.15T>C	c.(13-15)gcT>gcC	p.A5A	ZNF185_ENST00000318504.7_Silent_p.A5A|ZNF185_ENST00000370270.2_Silent_p.A5A|ZNF185_ENST00000324823.6_5'UTR|ZNF185_ENST00000449285.2_Silent_p.A5A|ZNF185_ENST00000539731.1_Silent_p.A5A|ZNF185_ENST00000370268.4_Silent_p.A5A	NM_001178106.1	NP_001171577.1	O15231	ZN185_HUMAN	zinc finger protein 185 (LIM domain)	5						cytoplasm|cytoskeleton|focal adhesion	zinc ion binding			NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(3)	12	Acute lymphoblastic leukemia(192;6.56e-05)					GTATCTCAGCTCTTGGAGGCC	0.547													7	6					0	0	0.006214	0	0	C	152083048	T	C	152083048	2	2	1	1	0	0	0	0	0	0	0	1	17810	1538	54	3		3	ZNF185	23	152083048	Silent	SNP	T	TCGA-CS-4938-01B-11D-1893-08	24896912	152083048	3187512	27	27											
NBL1	4681	broad.mit.edu	37	1	19981874	19981874	+	Silent	SNP	A	A	C			TCGA-CS-4941-01A-01D-1468-08	TCGA-CS-4941-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	003ed478-ceca-4752-8ae4-4cf12e6844bd	56e3b45b-55fa-4b7e-8998-920c8125aab1	g.chr1:19981874A>C	ENST00000375136.3	+	3	531	c.228A>C	c.(226-228)acA>acC	p.T76T	MINOS1-NBL1_ENST00000602662.1_Silent_p.T76T|NBL1_ENST00000548815.1_Silent_p.T75T|NBL1_ENST00000289749.2_Silent_p.T111T	NM_001204085.1|NM_001204089.1|NM_001278164.1|NM_001278166.1	NP_001191014.1|NP_001191018.1|NP_001265093.1|NP_001265095.1	P41271	NBL1_HUMAN	neuroblastoma 1, DAN family BMP antagonist	75	CTCK.					extracellular region				lung(2)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00043)|Ovarian(437;0.00373)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;5.9e-05)|Kidney(64;0.000173)|GBM - Glioblastoma multiforme(114;0.0012)|KIRC - Kidney renal clear cell carcinoma(64;0.0026)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		CACAGTCCACAGAGTCCCTGG	0.622													28	64					0	0	1	0	0	C	19981874	A	C	19981874	2	2	2	1	0	0	0	0	0	0	0	1	10238	175	7	5		5	NBL1	1	19981874	Silent	SNP	A	TCGA-CS-4941-01A-01D-1468-08		19981874	229268747	1	28											
LIN28A	79727	broad.mit.edu	37	1	26751934	26751934	+	Silent	SNP	G	G	A			TCGA-CS-4941-01A-01D-1468-08	TCGA-CS-4941-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	003ed478-ceca-4752-8ae4-4cf12e6844bd	56e3b45b-55fa-4b7e-8998-920c8125aab1	g.chr1:26751934G>A	ENST00000326279.6	+	3	483	c.369G>A	c.(367-369)cgG>cgA	p.R123R	LIN28A_ENST00000254231.4_Silent_p.R123R	NM_024674.4	NP_078950.1	Q9H9Z2	LN28A_HUMAN	lin-28 homolog A (C. elegans)	123					miRNA catabolic process|pre-miRNA processing|regulation of transcription, DNA-dependent|RNA 3'-end processing|stem cell maintenance	cytoplasmic mRNA processing body|nucleolus|stress granule	DNA binding|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)	8						GTGAGAGGCGGCCAAAAGGAA	0.512													4	235					0	0	1	0	0	A	26751934	G	A	26751934	2	1	2	1	0	0	0	0	0	0	0	1	8846	1190	42	2		2	LIN28A	1	26751934	Silent	SNP	G	TCGA-CS-4941-01A-01D-1468-08	6770060	26751934	222498687	2	29											
ERI3	79033	broad.mit.edu	37	1	44804751	44804751	+	Missense_Mutation	SNP	T	T	G			TCGA-CS-4941-01A-01D-1468-08	TCGA-CS-4941-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	003ed478-ceca-4752-8ae4-4cf12e6844bd	56e3b45b-55fa-4b7e-8998-920c8125aab1	g.chr1:44804751T>G	ENST00000372257.2	-	3	636	c.455A>C	c.(454-456)gAg>gCg	p.E152A	ERI3_ENST00000495828.1_5'UTR|ERI3_ENST00000537474.1_Intron	NM_024066.1	NP_076971.1	O43414	ERI3_HUMAN	ERI1 exoribonuclease family member 3	152	Exonuclease.					intracellular	exonuclease activity|metal ion binding|nucleic acid binding			endometrium(2)|large_intestine(2)|lung(7)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						GCACGTGGCCTCAAAGTCCAG	0.547													145	229					0	0	1	0	0	G	44804751	T	G	44804751	3	3	2	1	0	0	0	0	1	0	0	0	5257	1551	54	5	586	5	ERI3	1	44804751	Missense_Mutation	SNP	T	TCGA-CS-4941-01A-01D-1468-08	18052817	44804751	204445870	3	30											
ANKRD34A	284615	broad.mit.edu	37	1	145473827	145473827	+	Missense_Mutation	SNP	G	G	A			TCGA-CS-4941-01A-01D-1468-08	TCGA-CS-4941-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	003ed478-ceca-4752-8ae4-4cf12e6844bd	56e3b45b-55fa-4b7e-8998-920c8125aab1	g.chr1:145473827G>A	ENST00000323397.4	+	4	1792	c.499G>A	c.(499-501)Ggg>Agg	p.G167R		NM_001039888.2	NP_001034977.1	Q69YU3	AN34A_HUMAN	ankyrin repeat domain 34A	167										endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	20	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					ACCATCCCCAGGGGTGGAGGA	0.617													23	94					0	0	1	0	0	A	145473827	G	A	145473827	3	1	2	1	0	0	0	0	1	0	0	0	657	1000	35	2	501	2	ANKRD34A	1	145473827	Missense_Mutation	SNP	G	TCGA-CS-4941-01A-01D-1468-08	100669076	145473827	103776794	4	31											
FLG	2312	broad.mit.edu	37	1	152275719	152275719	+	Silent	SNP	C	C	T			TCGA-CS-4941-01A-01D-1468-08	TCGA-CS-4941-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	003ed478-ceca-4752-8ae4-4cf12e6844bd	56e3b45b-55fa-4b7e-8998-920c8125aab1	g.chr1:152275719C>T	ENST00000368799.1	-	3	11678	c.11643G>A	c.(11641-11643)gaG>gaA	p.E3881E	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3881	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGGAAGCAGACTCAGATCGCC	0.567									Ichthyosis				43	158					0	0	1	0	0	T	152275719	C	T	152275719	2	4	2	1	0	0	0	0	0	0	0	1	5955	564	20	2		2	FLG	1	152275719	Silent	SNP	C	TCGA-CS-4941-01A-01D-1468-08	6801892	152275719	96974902	5	32											
CRNN	49860	broad.mit.edu	37	1	152383181	152383181	+	Missense_Mutation	SNP	G	G	A			TCGA-CS-4941-01A-01D-1468-08	TCGA-CS-4941-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	003ed478-ceca-4752-8ae4-4cf12e6844bd	56e3b45b-55fa-4b7e-8998-920c8125aab1	g.chr1:152383181G>A	ENST00000271835.3	-	3	439	c.377C>T	c.(376-378)gCg>gTg	p.A126V	RP1-91G5.3_ENST00000411804.1_RNA	NM_016190.2	NP_057274.1	Q9UBG3	CRNN_HUMAN	cornulin	126					cell-cell adhesion|response to heat	cytoplasm|membrane	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCCTTTCCCCGCCCTTCCCAC	0.637													13	448					0	0	1	0	0	A	152383181	G	A	152383181	3	1	2	1	0	0	0	0	1	0	0	0	3915	1087	38	1	1114	1	CRNN	1	152383181	Missense_Mutation	SNP	G	TCGA-CS-4941-01A-01D-1468-08	107462	152383181	96867440	6	33											
PEAR1	375033	broad.mit.edu	37	1	156883725	156883725	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-4941-01A-01D-1468-08	TCGA-CS-4941-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	003ed478-ceca-4752-8ae4-4cf12e6844bd	56e3b45b-55fa-4b7e-8998-920c8125aab1	g.chr1:156883725C>T	ENST00000338302.3	+	23	3020	c.2795C>T	c.(2794-2796)cCc>cTc	p.P932L	PEAR1_ENST00000292357.7_Missense_Mutation_p.P932L			Q5VY43	PEAR1_HUMAN	platelet endothelial aggregation receptor 1	932	Pro-rich.					integral to membrane				breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)	43	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CGGGACCTGCCCAGCTTGCCA	0.617													33	40					0	0	1	0	0	T	156883725	C	T	156883725	3	4	2	1	0	0	0	0	1	0	0	0	11759	623	22	2	2877	2	PEAR1	1	156883725	Missense_Mutation	SNP	C	TCGA-CS-4941-01A-01D-1468-08	4500544	156883725	92366896	7	34											
PAPPA2	60676	broad.mit.edu	37	1	176525627	176525627	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CS-4941-01A-01D-1468-08	TCGA-CS-4941-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	003ed478-ceca-4752-8ae4-4cf12e6844bd	56e3b45b-55fa-4b7e-8998-920c8125aab1	g.chr1:176525627C>T	ENST00000367662.3	+	2	1333	c.169C>T	c.(169-171)Cga>Tga	p.R57*	PAPPA2_ENST00000367661.3_Nonsense_Mutation_p.R57*	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	57					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						GGCCAAGGTTCGAAGACCCAG	0.567													113	132					0	0	1	0	0	T	176525627	C	T	176525627	4	4	2	1	0	0	0	0	0	1	0	0	11480	876	31	1	171	1	PAPPA2	1	176525627	Nonsense_Mutation	SNP	C	TCGA-CS-4941-01A-01D-1468-08	19641902	176525627	72724994	8	35											
RGS21	431704	broad.mit.edu	37	1	192321182	192321182	+	Missense_Mutation	SNP	C	C	A			TCGA-CS-4941-01A-01D-1468-08	TCGA-CS-4941-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	003ed478-ceca-4752-8ae4-4cf12e6844bd	56e3b45b-55fa-4b7e-8998-920c8125aab1	g.chr1:192321182C>A	ENST00000417209.2	+	4	268	c.94C>A	c.(94-96)Cta>Ata	p.L32I		NM_001039152.3	NP_001034241.1	Q2M5E4	RGS21_HUMAN	regulator of G-protein signaling 21	32	RGS.				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity			NS(1)|endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	15						TATAGCTGGTCTAGATGCTTT	0.303													19	41					1.56452e-12	1.74053e-12	1	1	0	A	192321182	C	A	192321182	3	1	2	1	0	0	0	0	1	0	0	0	13354	912	32	4	104	4	RGS21	1	192321182	Missense_Mutation	SNP	C	TCGA-CS-4941-01A-01D-1468-08	15795555	192321182	56929439	9	36											
IKBKE	9641	broad.mit.edu	37	1	206647731	206647731	+	Missense_Mutation	SNP	C	C	T	rs143140330		TCGA-CS-4941-01A-01D-1468-08	TCGA-CS-4941-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	003ed478-ceca-4752-8ae4-4cf12e6844bd	56e3b45b-55fa-4b7e-8998-920c8125aab1	g.chr1:206647731C>T	ENST00000367120.3	+	4	518	c.145C>T	c.(145-147)Cgc>Tgc	p.R49C	IKBKE_ENST00000463979.1_3'UTR|IKBKE_ENST00000537984.1_5'UTR	NM_001193322.1|NM_014002.3	NP_001180251.1|NP_054721.1	Q14164	IKKE_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase epsilon	49	Protein kinase.				DNA damage response, signal transduction resulting in induction of apoptosis|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane|PML body	ATP binding|IkappaB kinase activity|NF-kappaB-inducing kinase activity|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|skin(2)	32	Breast(84;0.137)					CCTGCGGCCCCGCGAGGTGCA	0.582													23	31					0	0	1	0	0	T	206647731	C	T	206647731	3	4	2	1	0	0	0	0	1	0	0	0	7656	652	23	1	151	1	IKBKE	1	206647731	Missense_Mutation	SNP	C	TCGA-CS-4941-01A-01D-1468-08	14326549	206647731	42602890	10	37											
SOCS5	9655	broad.mit.edu	37	2	46985884	46985884	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CS-4941-01A-01D-1468-08	TCGA-CS-4941-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	003ed478-ceca-4752-8ae4-4cf12e6844bd	56e3b45b-55fa-4b7e-8998-920c8125aab1	g.chr2:46985884C>A	ENST00000306503.5	+	2	387	c.215C>A	c.(214-216)tCg>tAg	p.S72*	SOCS5_ENST00000394861.2_Nonsense_Mutation_p.S72*	NM_014011.4	NP_054730.1	O75159	SOCS5_HUMAN	suppressor of cytokine signaling 5	72					cell growth|cytokine-mediated signaling pathway|intracellular signal transduction|negative regulation of signal transduction|negative regulation of T-helper 2 cell differentiation|positive regulation of T-helper 1 cell differentiation|regulation of growth					breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(9)|ovary(2)	22		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.114)			TTAAGCCCTTCGAAGAATTCT	0.388													3	94					1	1	1	1	0	A	46985884	C	A	46985884	4	1	2	1	0	0	0	0	0	1	0	0	14971	893	31	5	217	5	SOCS5	2	46985884	Nonsense_Mutation	SNP	C	TCGA-CS-4941-01A-01D-1468-08		46985884	196213489	11	38											
CLASP1	23332	broad.mit.edu	37	2	122139824	122139824	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-4941-01A-01D-1468-08	TCGA-CS-4941-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	003ed478-ceca-4752-8ae4-4cf12e6844bd	56e3b45b-55fa-4b7e-8998-920c8125aab1	g.chr2:122139824C>T	ENST00000263710.4	-	33	3840	c.3451G>A	c.(3451-3453)Gct>Act	p.A1151T	CLASP1_ENST00000541377.1_Intron|CLASP1_ENST00000455322.2_Intron|CLASP1_ENST00000409078.3_Intron|CLASP1_ENST00000397587.3_Intron|CLASP1_ENST00000545861.1_Intron|CLASP1_ENST00000541859.1_Intron	NM_015282.2	NP_056097.1	Q7Z460	CLAP1_HUMAN	cytoplasmic linker associated protein 1	1151					axon guidance|cell division|establishment or maintenance of cell polarity|exit from mitosis|G2/M transition of mitotic cell cycle|microtubule anchoring|microtubule bundle formation|microtubule nucleation|microtubule organizing center organization|mitotic prometaphase|negative regulation of microtubule depolymerization	centrosomal corona|condensed chromosome kinetochore|cortical microtubule cytoskeleton|cytoplasmic microtubule|cytosol|Golgi apparatus|kinetochore microtubule	kinetochore binding|microtubule plus-end binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)	47	Renal(3;0.0496)					TGGGAGGGAGCGGTGGGGATG	0.522													10	11					0	0	1	0	0	T	122139824	C	T	122139824	3	4	2	1	0	0	0	0	1	0	0	0	3477	768	27	1	1197	1	CLASP1	2	122139824	Missense_Mutation	SNP	C	TCGA-CS-4941-01A-01D-1468-08	75153940	122139824	121059549	12	39											
BIN1	274	broad.mit.edu	37	2	127828379	127828379	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-4941-01A-01D-1468-08	TCGA-CS-4941-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	003ed478-ceca-4752-8ae4-4cf12e6844bd	56e3b45b-55fa-4b7e-8998-920c8125aab1	g.chr2:127828379C>T	ENST00000316724.5	-	3	590	c.179G>A	c.(178-180)cGg>cAg	p.R60Q	BIN1_ENST00000259238.4_Missense_Mutation_p.R60Q|BIN1_ENST00000393041.3_Missense_Mutation_p.R60Q|BIN1_ENST00000357970.3_Missense_Mutation_p.R60Q|BIN1_ENST00000376113.2_Missense_Mutation_p.R60Q|BIN1_ENST00000346226.3_Missense_Mutation_p.R60Q|BIN1_ENST00000351659.3_Missense_Mutation_p.R60Q|BIN1_ENST00000393040.3_Missense_Mutation_p.R60Q|BIN1_ENST00000348750.4_Missense_Mutation_p.R60Q|BIN1_ENST00000352848.3_Missense_Mutation_p.R60Q|BIN1_ENST00000409400.1_Missense_Mutation_p.R60Q	NM_139343.2	NP_647593.1	O00499	BIN1_HUMAN	bridging integrator 1	60	BAR.|Interaction with BIN2.				cell proliferation|endocytosis|interspecies interaction between organisms|multicellular organismal development	actin cytoskeleton|nucleus				NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(3)|skin(3)	24	Colorectal(110;0.0831)			BRCA - Breast invasive adenocarcinoma(221;0.073)		CTTCTGCAGCCGGGTGCCCTC	0.637													12	41					0	0	1	0	0	T	127828379	C	T	127828379	3	4	2	1	0	0	0	0	1	0	0	0	1431	652	23	1	1719	1	BIN1	2	127828379	Missense_Mutation	SNP	C	TCGA-CS-4941-01A-01D-1468-08	5688555	127828379	115370994	13	40											
LCT	3938	broad.mit.edu	37	2	136567270	136567270	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-4941-01A-01D-1468-08	TCGA-CS-4941-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	003ed478-ceca-4752-8ae4-4cf12e6844bd	56e3b45b-55fa-4b7e-8998-920c8125aab1	g.chr2:136567270C>T	ENST00000264162.2	-	8	2657	c.2647G>A	c.(2647-2649)Gtt>Att	p.V883I		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	883	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		TTTTCCCAAACGACTTTAGCC	0.502													46	131					0	0	1	0	0	T	136567270	C	T	136567270	3	4	2	1	0	0	0	0	1	0	0	0	8732	536	19	1	3176	1	LCT	2	136567270	Missense_Mutation	SNP	C	TCGA-CS-4941-01A-01D-1468-08	8738891	136567270	106632103	14	41											
TTN	7273	broad.mit.edu	37	2	179465605	179465605	+	Missense_Mutation	SNP	G	G	A			TCGA-CS-4941-01A-01D-1468-08	TCGA-CS-4941-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	003ed478-ceca-4752-8ae4-4cf12e6844bd	56e3b45b-55fa-4b7e-8998-920c8125aab1	g.chr2:179465605G>A	ENST00000589042.1	-	288	56250	c.56026C>T	c.(56026-56028)Cct>Tct	p.P18676S	TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P9736S|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.P17035S|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P9803S|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P16108S|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P9611S	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	17035	Fibronectin type-III 35.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACAGTCACAGGGCCAACAGTG	0.448													36	124					0	0	1	0	0	A	179465605	G	A	179465605	3	1	2	1	0	0	0	0	1	0	0	0	16797	1232	43	2	51967	2	TTN	2	179465605	Missense_Mutation	SNP	G	TCGA-CS-4941-01A-01D-1468-08	42898335	179465605	63733768	15	42											
SDPR	8436	broad.mit.edu	37	2	192711355	192711355	+	Silent	SNP	C	C	T			TCGA-CS-4941-01A-01D-1468-08	TCGA-CS-4941-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	003ed478-ceca-4752-8ae4-4cf12e6844bd	56e3b45b-55fa-4b7e-8998-920c8125aab1	g.chr2:192711355C>T	ENST00000304141.4	-	1	626	c.297G>A	c.(295-297)aaG>aaA	p.K99K	AC098617.1_ENST00000424116.2_RNA	NM_004657.5	NP_004648.1	O95810	SDPR_HUMAN	serum deprivation response	99						caveola|cytosol	phosphatidylserine binding|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3)	23			OV - Ovarian serous cystadenocarcinoma(117;0.0647)		Phosphatidylserine(DB00144)	ACTTGGAGAGCTTGGTGAGGT	0.592													21	52					0	0	1	0	0	T	192711355	C	T	192711355	2	4	2	1	0	0	0	0	0	0	0	1	14024	796	28	2		2	SDPR	2	192711355	Silent	SNP	C	TCGA-CS-4941-01A-01D-1468-08	13245750	192711355	50488018	16	43											
ANKRD44	91526	broad.mit.edu	37	2	197943464	197943464	+	Missense_Mutation	SNP	T	T	G			TCGA-CS-4941-01A-01D-1468-08	TCGA-CS-4941-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	003ed478-ceca-4752-8ae4-4cf12e6844bd	56e3b45b-55fa-4b7e-8998-920c8125aab1	g.chr2:197943464T>G	ENST00000328737.2	-	16	1614	c.1538A>C	c.(1537-1539)tAt>tCt	p.Y513S	ANKRD44_ENST00000337207.5_Missense_Mutation_p.Y513S|ANKRD44_ENST00000409153.1_Missense_Mutation_p.Y538S|ANKRD44_ENST00000282272.8_Missense_Mutation_p.Y530S|ANKRD44_ENST00000450567.1_Missense_Mutation_p.Y513S|ANKRD44_ENST00000539527.1_Missense_Mutation_p.Y466S			Q8N8A2	ANR44_HUMAN	ankyrin repeat domain 44	538							protein binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.246)			GGCGGCAGCATAATGTATGCT	0.413													11	37					0	0	1	0	0	G	197943464	T	G	197943464	3	3	2	1	0	0	0	0	1	0	0	0	666	1406	49	4	1265	4	ANKRD44	2	197943464	Missense_Mutation	SNP	T	TCGA-CS-4941-01A-01D-1468-08	5232109	197943464	45255909	17	44											
PDGFRA	5156	broad.mit.edu	37	4	55161298	55161298	+	Missense_Mutation	SNP	G	G	C			TCGA-CS-4941-01A-01D-1468-08	TCGA-CS-4941-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	003ed478-ceca-4752-8ae4-4cf12e6844bd	56e3b45b-55fa-4b7e-8998-920c8125aab1	g.chr4:55161298G>C	ENST00000257290.5	+	23	3460	c.3129G>C	c.(3127-3129)caG>caC	p.Q1043H	FIP1L1_ENST00000507166.1_Missense_Mutation_p.Q803H	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	1043	Ser-rich.				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	CCAGCTCGCAGACCTCTGAAG	0.507			"Mis, O, T"	FIP1L1	"GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			5	129					0	0	1	0	0	C	55161298	G	C	55161298	3	2	2	1	0	0	0	0	1	0	0	0	11708	933	33	4	3215	4	PDGFRA	4	55161298	Missense_Mutation	SNP	G	TCGA-CS-4941-01A-01D-1468-08		55161298	135992978	18	45											
GK2	2712	broad.mit.edu	37	4	80328975	80328975	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-4941-01A-01D-1468-08	TCGA-CS-4941-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	003ed478-ceca-4752-8ae4-4cf12e6844bd	56e3b45b-55fa-4b7e-8998-920c8125aab1	g.chr4:80328975C>T	ENST00000358842.3	-	1	397	c.380G>A	c.(379-381)aGt>aAt	p.S127N		NM_033214.2	NP_149991.2	Q14410	GLPK2_HUMAN	glycerol kinase 2	127					glycerol-3-phosphate metabolic process	mitochondrial outer membrane	ATP binding|glycerol kinase activity			autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	39						AATTTTTTTACTAAGATCCTC	0.428													58	158					0	0	1	0	0	T	80328975	C	T	80328975	3	4	2	1	0	0	0	0	1	0	0	0	6463	565	20	2	1285	2	GK2	4	80328975	Missense_Mutation	SNP	C	TCGA-CS-4941-01A-01D-1468-08	25167677	80328975	110825301	19	46											
CAMK2D	817	broad.mit.edu	37	4	114680566	114680566	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-4941-01A-01D-1468-08	TCGA-CS-4941-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	003ed478-ceca-4752-8ae4-4cf12e6844bd	56e3b45b-55fa-4b7e-8998-920c8125aab1	g.chr4:114680566C>T	ENST00000454265.2	-	2	928	c.70G>A	c.(70-72)Gca>Aca	p.A24T	CAMK2D_ENST00000511664.1_Missense_Mutation_p.A24T|CAMK2D_ENST00000509907.1_5'UTR|CAMK2D_ENST00000394526.2_Missense_Mutation_p.A24T|CAMK2D_ENST00000508738.1_Missense_Mutation_p.A24T|CAMK2D_ENST00000296402.5_Missense_Mutation_p.A24T|CAMK2D_ENST00000418639.2_Missense_Mutation_p.A24T|CAMK2D_ENST00000515496.1_Missense_Mutation_p.A24T|CAMK2D_ENST00000342666.5_Missense_Mutation_p.A24T|CAMK2D_ENST00000379773.2_Missense_Mutation_p.A24T|CAMK2D_ENST00000394522.3_Missense_Mutation_p.A24T|CAMK2D_ENST00000394524.3_Missense_Mutation_p.A24T|CAMK2D_ENST00000505990.1_Missense_Mutation_p.A24T|CAMK2D_ENST00000429180.1_Missense_Mutation_p.A24T|CAMK2D_ENST00000514328.1_Missense_Mutation_p.A24T			Q13557	KCC2D_HUMAN	calcium/calmodulin-dependent protein kinase II delta	24	Protein kinase.				interferon-gamma-mediated signaling pathway|regulation of cell growth|synaptic transmission	calcium- and calmodulin-dependent protein kinase complex|cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	13		Ovarian(17;0.00369)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000271)		ACTGAGAATGCCCCCCTGGAA	0.323													4	151					0	0	1	0	0	T	114680566	C	T	114680566	3	4	2	1	0	0	0	0	1	0	0	0	2619	739	26	2	1592	2	CAMK2D	4	114680566	Missense_Mutation	SNP	C	TCGA-CS-4941-01A-01D-1468-08	34351591	114680566	76473710	20	47											
FGA	2243	broad.mit.edu	37	4	155505774	155505774	+	Silent	SNP	G	G	A	rs148411201		TCGA-CS-4941-01A-01D-1468-08	TCGA-CS-4941-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	003ed478-ceca-4752-8ae4-4cf12e6844bd	56e3b45b-55fa-4b7e-8998-920c8125aab1	g.chr4:155505774G>A	ENST00000302053.3	-	6	2181	c.2103C>T	c.(2101-2103)gaC>gaT	p.D701D		NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	701	Fibrinogen C-terminal.				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding	p.D701D(1)		NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	CTTCCCCCTCGTCATTCAGGC	0.493													4	139					0	0	1	0	0	A	155505774	G	A	155505774	2	1	2	1	0	0	0	0	0	0	0	1	5863	1136	40	1		1	FGA	4	155505774	Silent	SNP	G	TCGA-CS-4941-01A-01D-1468-08	40825208	155505774	35648502	21	48											
BASP1	10409	broad.mit.edu	37	5	17275508	17275508	+	Silent	SNP	C	C	T			TCGA-CS-4941-01A-01D-1468-08	TCGA-CS-4941-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	003ed478-ceca-4752-8ae4-4cf12e6844bd	56e3b45b-55fa-4b7e-8998-920c8125aab1	g.chr5:17275508C>T	ENST00000322611.3	+	2	443	c.183C>T	c.(181-183)gaC>gaT	p.D61D		NM_001271606.1|NM_006317.3	NP_001258535.1|NP_006308.3	P80723	BASP1_HUMAN	brain abundant, membrane attached signal protein 1	61					glomerular visceral epithelial cell differentiation|negative regulation of transcription, DNA-dependent	cytoplasm|cytoskeleton|growth cone|nuclear speck|plasma membrane	protein domain specific binding|transcription corepressor activity|transcription regulatory region DNA binding			endometrium(1)|lung(8)	9						CCGACCAGGACGCCGAGGGCA	0.736													3	6					0	0	1	0	0	T	17275508	C	T	17275508	2	4	2	1	0	0	0	0	0	0	0	1	1315	535	19	1		1	BASP1	5	17275508	Silent	SNP	C	TCGA-CS-4941-01A-01D-1468-08		17275508	163639752	22	49											
CDH9	1007	broad.mit.edu	37	5	26881407	26881407	+	Silent	SNP	T	T	G			TCGA-CS-4941-01A-01D-1468-08	TCGA-CS-4941-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	003ed478-ceca-4752-8ae4-4cf12e6844bd	56e3b45b-55fa-4b7e-8998-920c8125aab1	g.chr5:26881407T>G	ENST00000231021.4	-	12	2380	c.2208A>C	c.(2206-2208)gcA>gcC	p.A736A		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	736					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						AGGCATACGTTGCCAGCGAAT	0.418													63	126					0	0	1	0	0	G	26881407	T	G	26881407	2	3	2	1	0	0	0	0	0	0	0	1	3139	1799	63	5		5	CDH9	5	26881407	Silent	SNP	T	TCGA-CS-4941-01A-01D-1468-08	9605899	26881407	154033853	23	50											
EGFLAM	133584	broad.mit.edu	37	5	38427311	38427311	+	Missense_Mutation	SNP	G	G	A	rs147520523	byFrequency	TCGA-CS-4941-01A-01D-1468-08	TCGA-CS-4941-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	003ed478-ceca-4752-8ae4-4cf12e6844bd	56e3b45b-55fa-4b7e-8998-920c8125aab1	g.chr5:38427311G>A	ENST00000322350.5	+	14	2357	c.2011G>A	c.(2011-2013)Gtg>Atg	p.V671M	EGFLAM_ENST00000336740.6_Missense_Mutation_p.V437M|EGFLAM_ENST00000354891.3_Missense_Mutation_p.V671M|EGFLAM_ENST00000397202.2_Missense_Mutation_p.V37M|EGFLAM-AS1_ENST00000508986.1_RNA	NM_152403.3	NP_689616.2	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	671	Laminin G-like 2.					cell junction|proteinaceous extracellular matrix|synapse				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					AGGGGGCCACGTGGAGTTCCG	0.522													6	222					0	0	1	0	0	A	38427311	G	A	38427311	3	1	2	1	0	0	0	0	1	0	0	0	4992	1145	40	1	2079	1	EGFLAM	5	38427311	Missense_Mutation	SNP	G	TCGA-CS-4941-01A-01D-1468-08	11545904	38427311	142487949	24	51											
ZNF366	167465	broad.mit.edu	37	5	71756221	71756221	+	Missense_Mutation	SNP	A	A	G			TCGA-CS-4941-01A-01D-1468-08	TCGA-CS-4941-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	003ed478-ceca-4752-8ae4-4cf12e6844bd	56e3b45b-55fa-4b7e-8998-920c8125aab1	g.chr5:71756221A>G	ENST00000318442.5	-	2	1593	c.1103T>C	c.(1102-1104)gTg>gCg	p.V368A		NM_152625.1	NP_689838.1	Q8N895	ZN366_HUMAN	zinc finger protein 366	368					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		GCCGCACTCCACACAGATGTT	0.657													11	41					0	0	1	0	0	G	71756221	A	G	71756221	3	3	2	1	0	0	0	0	1	0	0	0	17927	159	6	3	1147	3	ZNF366	5	71756221	Missense_Mutation	SNP	A	TCGA-CS-4941-01A-01D-1468-08	33328910	71756221	109159039	25	52											
DMGDH	29958	broad.mit.edu	37	5	78347300	78347300	+	Missense_Mutation	SNP	C	C	A			TCGA-CS-4941-01A-01D-1468-08	TCGA-CS-4941-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	003ed478-ceca-4752-8ae4-4cf12e6844bd	56e3b45b-55fa-4b7e-8998-920c8125aab1	g.chr5:78347300C>A	ENST00000255189.3	-	5	583	c.555G>T	c.(553-555)ttG>ttT	p.L185F	DMGDH_ENST00000380311.4_Intron|DMGDH_ENST00000540686.1_Intron	NM_013391.2	NP_037523.2	Q9UI17	M2GD_HUMAN	dimethylglycine dehydrogenase	185					choline metabolic process|glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|dimethylglycine dehydrogenase activity|electron carrier activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	34		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)		CAGGATTATACAATCCAGCTA	0.363													3	88					0.115264	0.122125	1	1	0	A	78347300	C	A	78347300	3	1	2	1	0	0	0	0	1	0	0	0	4609	477	17	5	2093	5	DMGDH	5	78347300	Missense_Mutation	SNP	C	TCGA-CS-4941-01A-01D-1468-08	6591079	78347300	102567960	26	53											
ARHGAP26	23092	broad.mit.edu	37	5	142526856	142526856	+	Missense_Mutation	SNP	G	G	A			TCGA-CS-4941-01A-01D-1468-08	TCGA-CS-4941-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	003ed478-ceca-4752-8ae4-4cf12e6844bd	56e3b45b-55fa-4b7e-8998-920c8125aab1	g.chr5:142526856G>A	ENST00000378004.3	+	20	2253	c.1898G>A	c.(1897-1899)aGc>aAc	p.S633N	ARHGAP26_ENST00000274498.4_Missense_Mutation_p.S633N	NM_001135608.1	NP_001129080.1	Q9UNA1	RHG26_HUMAN	Rho GTPase activating protein 26	633	Ser-rich.				actin cytoskeleton organization|filopodium assembly|nervous system development|small GTPase mediated signal transduction	cytoskeleton|cytosol|focal adhesion	cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(7)|ovary(1)	25		all_hematologic(541;0.0416)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AATCCAAACAGCATCCTTAAT	0.473													45	109					0	0	1	0	0	A	142526856	G	A	142526856	3	1	2	1	0	0	0	0	1	0	0	0	872	971	34	2	1976	2	ARHGAP26	5	142526856	Missense_Mutation	SNP	G	TCGA-CS-4941-01A-01D-1468-08	64179556	142526856	38388404	27	54											
CCHCR1	54535	broad.mit.edu	37	6	31125375	31125375	+	Translation_Start_Site	SNP	C	C	T			TCGA-CS-4941-01A-01D-1468-08	TCGA-CS-4941-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	003ed478-ceca-4752-8ae4-4cf12e6844bd	56e3b45b-55fa-4b7e-8998-920c8125aab1	g.chr6:31125375C>T	ENST00000396268.3	-	1	191	c.3G>A	c.(1-3)atG>atA	p.M1I	CCHCR1_ENST00000396263.2_Intron|CCHCR1_ENST00000376266.5_Intron|CCHCR1_ENST00000480060.1_Intron|CCHCR1_ENST00000451521.2_Start_Codon_SNP_p.M1I	NM_001105563.1|NM_001105564.1	NP_001099033.1|NP_001099034.1	Q8TD31	CCHCR_HUMAN	coiled-coil alpha-helical rod protein 1	0					cell differentiation|multicellular organismal development	cytoplasm|nucleus	protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(13)|skin(1)	23						AATGTGGCCACATGCAGGGCT	0.587													6	16					0	0	1	0	0	T	31125375	C	T	31125375	1	4	2	1	0	0	0	0	0	0	0	0	2897	478	17	2		2	CCHCR1	6	31125375	Translation_Start_Site	SNP	C	TCGA-CS-4941-01A-01D-1468-08		31125375	139989692	28	55											
DNAH11	8701	broad.mit.edu	37	7	21730409	21730409	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-4941-01A-01D-1468-08	TCGA-CS-4941-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	003ed478-ceca-4752-8ae4-4cf12e6844bd	56e3b45b-55fa-4b7e-8998-920c8125aab1	g.chr7:21730409C>T	ENST00000328843.6	+	36	6003	c.5972C>T	c.(5971-5973)aCa>aTa	p.T1991I	DNAH11_ENST00000409508.3_Missense_Mutation_p.T1984I			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1991	AAA 1 (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						GAAGCTATCACACTGAAGCCA	0.363									Kartagener syndrome				6	325					0	0	1	0	0	T	21730409	C	T	21730409	3	4	2	1	0	0	0	0	1	0	0	0	4627	478	17	2	6111	2	DNAH11	7	21730409	Missense_Mutation	SNP	C	TCGA-CS-4941-01A-01D-1468-08		21730409	137408254	29	56											
DNAH11	8701	broad.mit.edu	37	7	21742356	21742356	+	Missense_Mutation	SNP	T	T	C			TCGA-CS-4941-01A-01D-1468-08	TCGA-CS-4941-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	003ed478-ceca-4752-8ae4-4cf12e6844bd	56e3b45b-55fa-4b7e-8998-920c8125aab1	g.chr7:21742356T>C	ENST00000328843.6	+	38	6261	c.6230T>C	c.(6229-6231)aTt>aCt	p.I2077T	DNAH11_ENST00000409508.3_Missense_Mutation_p.I2070T			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	2077	AAA 1 (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						CTTCGTGCTATTAAGTCTGTC	0.388									Kartagener syndrome				10	39					0	0	1	0	0	C	21742356	T	C	21742356	3	2	2	1	0	0	0	0	1	0	0	0	4627	1493	52	3	6377	3	DNAH11	7	21742356	Missense_Mutation	SNP	T	TCGA-CS-4941-01A-01D-1468-08	11947	21742356	137396307	30	57											
CUX1	1523	broad.mit.edu	37	7	101924100	101924100	+	Missense_Mutation	SNP	G	G	T			TCGA-CS-4941-01A-01D-1468-08	TCGA-CS-4941-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	003ed478-ceca-4752-8ae4-4cf12e6844bd	56e3b45b-55fa-4b7e-8998-920c8125aab1	g.chr7:101924100G>T	ENST00000437600.4	+	20	2115	c.1763G>T	c.(1762-1764)cGg>cTg	p.R588L	CUX1_ENST00000547394.2_Missense_Mutation_p.R574L|CUX1_ENST00000425244.2_Missense_Mutation_p.R544L|CUX1_ENST00000292538.4_Missense_Mutation_p.R590L|CUX1_ENST00000393824.3_Missense_Mutation_p.R551L|CUX1_ENST00000560541.1_3'UTR	NM_181500.2	NP_852477.1	P39880	CUX1_HUMAN	cut-like homeobox 1	177					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						GTGCAGGAGCGGCAGAGGAAG	0.652													3	81					1	1	1	1	0	T	101924100	G	T	101924100	3	4	2	1	0	0	0	0	1	0	0	0	4087	1116	39	5	5217	5	CUX1	7	101924100	Missense_Mutation	SNP	G	TCGA-CS-4941-01A-01D-1468-08	80181744	101924100	57214563	31	58											
MGAM	8972	broad.mit.edu	37	7	141736692	141736692	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-4941-01A-01D-1468-08	TCGA-CS-4941-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	003ed478-ceca-4752-8ae4-4cf12e6844bd	56e3b45b-55fa-4b7e-8998-920c8125aab1	g.chr7:141736692C>T	ENST00000475668.2	+	18	2200	c.2146C>T	c.(2146-2148)Cgc>Tgc	p.R716C	MGAM_ENST00000549489.2_Missense_Mutation_p.R716C			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	716	Maltase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CCTTAACATCCGCTATACTCT	0.532													93	302					0	0	1	0	0	T	141736692	C	T	141736692	3	4	2	1	0	0	0	0	1	0	0	0	9591	652	23	1	2212	1	MGAM	7	141736692	Missense_Mutation	SNP	C	TCGA-CS-4941-01A-01D-1468-08	39812592	141736692	17401971	32	59											
ADAM7	8756	broad.mit.edu	37	8	24350112	24350112	+	Splice_Site	SNP	T	T	A			TCGA-CS-4941-01A-01D-1468-08	TCGA-CS-4941-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	003ed478-ceca-4752-8ae4-4cf12e6844bd	56e3b45b-55fa-4b7e-8998-920c8125aab1	g.chr8:24350112T>A	ENST00000175238.6	+	15	1738		c.e15+2		RP11-624C23.1_ENST00000523578.1_RNA|RP11-561E1.1_ENST00000519364.1_RNA|ADAM7_ENST00000520720.1_Splice_Site|ADAM7_ENST00000380789.1_Splice_Site|RP11-624C23.1_ENST00000519689.1_RNA	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN	ADAM metallopeptidase domain 7						proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		TGAGGAGAAGTAAGTGCCCTG	0.373													22	56					0	0	1	0	0	A	24350112	T	A	24350112	5	1	2	1	0	0	0	0	0	0	1	0	250	1652	57	5	1715	5	ADAM7	8	24350112	Splice_Site	SNP	T	TCGA-CS-4941-01A-01D-1468-08		24350112	122013910	33	60											
ADAM7	8756	broad.mit.edu	37	8	24350563	24350563	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CS-4941-01A-01D-1468-08	TCGA-CS-4941-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	003ed478-ceca-4752-8ae4-4cf12e6844bd	56e3b45b-55fa-4b7e-8998-920c8125aab1	g.chr8:24350563A>T	ENST00000175238.6	+	16	1746	c.1663A>T	c.(1663-1665)Aga>Tga	p.R555*	RP11-624C23.1_ENST00000523578.1_RNA|RP11-561E1.1_ENST00000519364.1_RNA|ADAM7_ENST00000520720.1_Nonsense_Mutation_p.R327*|ADAM7_ENST00000380789.1_Nonsense_Mutation_p.R555*|RP11-624C23.1_ENST00000519689.1_RNA	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN	ADAM metallopeptidase domain 7	555	Cys-rich.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		CAGAGATGTCAGATGTGGAAA	0.448													12	62					0	0	1	0	0	T	24350563	A	T	24350563	4	4	2	1	0	0	0	0	0	1	0	0	250	180	7	5	1725	5	ADAM7	8	24350563	Nonsense_Mutation	SNP	A	TCGA-CS-4941-01A-01D-1468-08	451	24350563	122013459	34	61											
MTERFD1	51001	broad.mit.edu	37	8	97256197	97256197	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-4941-01A-01D-1468-08	TCGA-CS-4941-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	003ed478-ceca-4752-8ae4-4cf12e6844bd	56e3b45b-55fa-4b7e-8998-920c8125aab1	g.chr8:97256197C>T	ENST00000523821.1	-	7	1128	c.1009G>A	c.(1009-1011)Gtg>Atg	p.V337M	MTERFD1_ENST00000522822.1_Missense_Mutation_p.V216M|MTERFD1_ENST00000524341.1_Intron|MTERFD1_ENST00000287025.3_Missense_Mutation_p.V337M			Q96E29	MTER1_HUMAN	MTERF domain containing 1	337					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion	transcription regulatory region DNA binding			endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	24	Breast(36;5.16e-05)					ACATTGTGCACAAAATCAAAC	0.403													27	83					0	0	1	0	0	T	97256197	C	T	97256197	3	4	2	1	0	0	0	0	1	0	0	0	9967	478	17	2	252	2	MTERFD1	8	97256197	Missense_Mutation	SNP	C	TCGA-CS-4941-01A-01D-1468-08	72905634	97256197	49107825	35	62											
EFR3A	23167	broad.mit.edu	37	8	132971845	132971845	+	Missense_Mutation	SNP	C	C	G			TCGA-CS-4941-01A-01D-1468-08	TCGA-CS-4941-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	003ed478-ceca-4752-8ae4-4cf12e6844bd	56e3b45b-55fa-4b7e-8998-920c8125aab1	g.chr8:132971845C>G	ENST00000254624.5	+	8	1015	c.790C>G	c.(790-792)Cac>Gac	p.H264D	EFR3A_ENST00000519656.1_Missense_Mutation_p.H228D|EFR3A_ENST00000334503.4_Missense_Mutation_p.H264D	NM_015137.4	NP_055952.2	Q14156	EFR3A_HUMAN	EFR3 homolog A (S. cerevisiae)	264						plasma membrane	binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|skin(1)|stomach(2)	35	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102)			TTTAGATCATCACAAACTGTG	0.284													21	68					0	0	1	0	0	G	132971845	C	G	132971845	3	3	2	1	0	0	0	0	1	0	0	0	4984	826	29	5	820	5	EFR3A	8	132971845	Missense_Mutation	SNP	C	TCGA-CS-4941-01A-01D-1468-08	35715648	132971845	13392177	36	63											
ADAMTSL1	92949	broad.mit.edu	37	9	18777565	18777565	+	Missense_Mutation	SNP	T	T	A			TCGA-CS-4941-01A-01D-1468-08	TCGA-CS-4941-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	003ed478-ceca-4752-8ae4-4cf12e6844bd	56e3b45b-55fa-4b7e-8998-920c8125aab1	g.chr9:18777565T>A	ENST00000380548.4	+	19	3677	c.3338T>A	c.(3337-3339)cTg>cAg	p.L1113Q		NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	1113						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		CGCAGCCACCTGGAGCACCAG	0.647													5	13					0	0	1	0	0	A	18777565	T	A	18777565	3	1	2	1	0	0	0	0	1	0	0	0	273	1580	55	5	3416	5	ADAMTSL1	9	18777565	Missense_Mutation	SNP	T	TCGA-CS-4941-01A-01D-1468-08		18777565	122435866	37	64											
KIF24	347240	broad.mit.edu	37	9	34259658	34259658	+	Missense_Mutation	SNP	C	C	A			TCGA-CS-4941-01A-01D-1468-08	TCGA-CS-4941-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	003ed478-ceca-4752-8ae4-4cf12e6844bd	56e3b45b-55fa-4b7e-8998-920c8125aab1	g.chr9:34259658C>A	ENST00000379166.2	-	10	1680	c.1561G>T	c.(1561-1563)Gcc>Tcc	p.A521S	KIF24_ENST00000402558.2_Missense_Mutation_p.A521S|KIF24_ENST00000379174.3_Missense_Mutation_p.A387S|KIF24_ENST00000345050.2_Missense_Mutation_p.A387S	NM_194313.2	NP_919289.2	Q5T7B8	KIF24_HUMAN	kinesin family member 24	521					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(13)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	32			LUSC - Lung squamous cell carcinoma(29;0.0107)			GAGATGTTGGCGATCATGCAG	0.493													4	250					1	1	1	1	0	A	34259658	C	A	34259658	3	1	2	1	0	0	0	0	1	0	0	0	8334	768	27	5	2561	5	KIF24	9	34259658	Missense_Mutation	SNP	C	TCGA-CS-4941-01A-01D-1468-08	15482093	34259658	106953773	38	65											
ALDH1B1	219	broad.mit.edu	37	9	38396064	38396064	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-4941-01A-01D-1468-08	TCGA-CS-4941-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	003ed478-ceca-4752-8ae4-4cf12e6844bd	56e3b45b-55fa-4b7e-8998-920c8125aab1	g.chr9:38396064C>T	ENST00000377698.3	+	2	472	c.319C>T	c.(319-321)Cgc>Tgc	p.R107C		NM_000692.4	NP_000683.3	P30837	AL1B1_HUMAN	aldehyde dehydrogenase 1 family, member B1	107			L -> R (in allele ALDHA1B1*3; dbSNP:rs2073478).		carbohydrate metabolic process	mitochondrial matrix|nucleus	aldehyde dehydrogenase (NAD) activity			NS(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(2)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(29;0.043)|Lung(182;0.115)	NADH(DB00157)	GCTGCTGAACCGCCTGGCAGA	0.632													39	108					0	0	1	0	0	T	38396064	C	T	38396064	3	4	2	1	0	0	0	0	1	0	0	0	490	652	23	1	321	1	ALDH1B1	9	38396064	Missense_Mutation	SNP	C	TCGA-CS-4941-01A-01D-1468-08	4136406	38396064	102817367	39	66											
CDK5RAP2	55755	broad.mit.edu	37	9	123152041	123152041	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-4941-01A-01D-1468-08	TCGA-CS-4941-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	003ed478-ceca-4752-8ae4-4cf12e6844bd	56e3b45b-55fa-4b7e-8998-920c8125aab1	g.chr9:123152041C>T	ENST00000349780.4	-	37	5782	c.5603G>A	c.(5602-5604)cGg>cAg	p.R1868Q	CDK5RAP2_ENST00000480467.1_5'UTR|CDK5RAP2_ENST00000360190.4_Missense_Mutation_p.R1789Q|CDK5RAP2_ENST00000360822.3_Missense_Mutation_p.R1836Q|CDK5RAP2_ENST00000359309.3_Missense_Mutation_p.R1827Q	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	1868	Interaction with PCNT and AKAP9.|Required for centrosomal attachment, Golgi localization and CALM1 interaction.				brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding			breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						TCTGGCCTTCCGAAGGATTTT	0.517													6	61					0	0	1	0	0	T	123152041	C	T	123152041	3	4	2	1	0	0	0	0	1	0	0	0	3168	652	23	1	86	1	CDK5RAP2	9	123152041	Missense_Mutation	SNP	C	TCGA-CS-4941-01A-01D-1468-08	84755977	123152041	18061390	40	67											
PNPLA7	375775	broad.mit.edu	37	9	140409907	140409907	+	Silent	SNP	C	C	T			TCGA-CS-4941-01A-01D-1468-08	TCGA-CS-4941-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	003ed478-ceca-4752-8ae4-4cf12e6844bd	56e3b45b-55fa-4b7e-8998-920c8125aab1	g.chr9:140409907C>T	ENST00000406427.1	-	12	1485	c.1149G>A	c.(1147-1149)gcG>gcA	p.A383A	PNPLA7_ENST00000277531.4_Silent_p.A358A|PNPLA7_ENST00000371457.1_5'UTR	NM_001098537.1	NP_001092007.1	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	358					lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		GAATGGAAGGCGCGGGGACGG	0.657													3	9					0	0	1	0	0	T	140409907	C	T	140409907	2	4	2	1	0	0	0	0	0	0	0	1	12218	755	27	1		1	PNPLA7	9	140409907	Silent	SNP	C	TCGA-CS-4941-01A-01D-1468-08	17257866	140409907	803524	41	68											
CCKBR	887	broad.mit.edu	37	11	6292257	6292257	+	Silent	SNP	C	C	T			TCGA-CS-4941-01A-01D-1468-08	TCGA-CS-4941-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	003ed478-ceca-4752-8ae4-4cf12e6844bd	56e3b45b-55fa-4b7e-8998-920c8125aab1	g.chr11:6292257C>T	ENST00000525462.1	+	4	1038	c.1035C>T	c.(1033-1035)aaC>aaT	p.N345N	CCKBR_ENST00000532715.1_Silent_p.N192N|CCKBR_ENST00000532396.1_3'UTR|CCKBR_ENST00000334619.2_Silent_p.N276N			P32239	GASR_HUMAN	cholecystokinin B receptor	276					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cell proliferation|digestion|elevation of cytosolic calcium ion concentration|feeding behavior|positive regulation of cell proliferation|sensory perception		1-phosphatidylinositol-3-kinase regulator activity|gastrin receptor activity|phosphatidylinositol phospholipase C activity|type B gastrin/cholecystokinin receptor binding			NS(2)|breast(2)|endometrium(4)|kidney(13)|large_intestine(10)|lung(22)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	Pentagastrin(DB00183)	TTCACCAGAACGGGCGTTGCC	0.662													4	104					0	0	1	0	0	T	6292257	C	T	6292257	2	4	2	1	0	0	0	0	0	0	0	1	2901	535	19	1		1	CCKBR	11	6292257	Silent	SNP	C	TCGA-CS-4941-01A-01D-1468-08		6292257	128714259	42	69											
DNHD1	144132	broad.mit.edu	37	11	6588129	6588129	+	Missense_Mutation	SNP	G	G	A			TCGA-CS-4941-01A-01D-1468-08	TCGA-CS-4941-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	003ed478-ceca-4752-8ae4-4cf12e6844bd	56e3b45b-55fa-4b7e-8998-920c8125aab1	g.chr11:6588129G>A	ENST00000254579.6	+	36	11954	c.11390G>A	c.(11389-11391)cGg>cAg	p.R3797Q	DNHD1_ENST00000527990.2_Missense_Mutation_p.R3797Q	NM_144666.2	NP_653267.2	Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	3797					microtubule-based movement	dynein complex	microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		ATGCAGGAGCGGCTGCTGACG	0.542													7	6					0	0	1	0	0	A	6588129	G	A	6588129	3	1	2	1	0	0	0	0	1	0	0	0	4695	1116	39	1	11533	1	DNHD1	11	6588129	Missense_Mutation	SNP	G	TCGA-CS-4941-01A-01D-1468-08	295872	6588129	128418387	43	70											
DNHD1	144132	broad.mit.edu	37	11	6588423	6588423	+	Missense_Mutation	SNP	G	G	A			TCGA-CS-4941-01A-01D-1468-08	TCGA-CS-4941-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	003ed478-ceca-4752-8ae4-4cf12e6844bd	56e3b45b-55fa-4b7e-8998-920c8125aab1	g.chr11:6588423G>A	ENST00000254579.6	+	36	12248	c.11684G>A	c.(11683-11685)cGt>cAt	p.R3895H	DNHD1_ENST00000527990.2_Missense_Mutation_p.R3895H	NM_144666.2	NP_653267.2	Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	3895					microtubule-based movement	dynein complex	microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		ATGAAGCCACGTGAGATTAAT	0.577													46	116					0	0	1	0	0	A	6588423	G	A	6588423	3	1	2	1	0	0	0	0	1	0	0	0	4695	1145	40	1	11827	1	DNHD1	11	6588423	Missense_Mutation	SNP	G	TCGA-CS-4941-01A-01D-1468-08	294	6588423	128418093	44	71											
OR10A5	144124	broad.mit.edu	37	11	6867517	6867517	+	Missense_Mutation	SNP	G	G	A			TCGA-CS-4941-01A-01D-1468-08	TCGA-CS-4941-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	003ed478-ceca-4752-8ae4-4cf12e6844bd	56e3b45b-55fa-4b7e-8998-920c8125aab1	g.chr11:6867517G>A	ENST00000299454.4	+	1	635	c.604G>A	c.(604-606)Gtc>Atc	p.V202I	OR10A5_ENST00000379831.2_Missense_Mutation_p.V206I			Q9H207	O10A5_HUMAN	olfactory receptor, family 10, subfamily A, member 5	202					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V202L(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	21		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		CTACGCCATCGTCGGAACCAT	0.512													53	135					0	0	1	0	0	A	6867517	G	A	6867517	3	1	2	1	0	0	0	0	1	0	0	0	10941	1145	40	1	606	1	OR10A5	11	6867517	Missense_Mutation	SNP	G	TCGA-CS-4941-01A-01D-1468-08	279094	6867517	128138999	45	72											
CD82	3732	broad.mit.edu	37	11	44640201	44640201	+	Silent	SNP	G	G	A			TCGA-CS-4941-01A-01D-1468-08	TCGA-CS-4941-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	003ed478-ceca-4752-8ae4-4cf12e6844bd	56e3b45b-55fa-4b7e-8998-920c8125aab1	g.chr11:44640201G>A	ENST00000227155.4	+	9	902	c.654G>A	c.(652-654)gaG>gaA	p.E218E	CD82_ENST00000342935.3_Silent_p.E193E|CD82_ENST00000530931.1_3'UTR	NM_002231.3	NP_002222.1	P27701	CD82_HUMAN	CD82 molecule	218						integral to plasma membrane	protein binding			large_intestine(1)|ovary(1)	2						GCTGCATGGAGAAGGTGCAGG	0.667													20	70					0	0	1	0	0	A	44640201	G	A	44640201	2	1	2	1	0	0	0	0	0	0	0	1	3062	933	33	2		2	CD82	11	44640201	Silent	SNP	G	TCGA-CS-4941-01A-01D-1468-08	37772684	44640201	90366315	46	73											
EFEMP2	30008	broad.mit.edu	37	11	65638766	65638766	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-4941-01A-01D-1468-08	TCGA-CS-4941-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	003ed478-ceca-4752-8ae4-4cf12e6844bd	56e3b45b-55fa-4b7e-8998-920c8125aab1	g.chr11:65638766C>T	ENST00000307998.6	-	4	459	c.229G>A	c.(229-231)Ggc>Agc	p.G77S	EFEMP2_ENST00000528176.1_Missense_Mutation_p.G77S	NM_016938.4	NP_058634.4	O95967	FBLN4_HUMAN	EGF containing fibulin-like extracellular matrix protein 2	77	EGF-like 1; atypical.				blood coagulation	basement membrane|membrane	calcium ion binding|extracellular matrix structural constituent|protein binding|transmembrane receptor activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21				READ - Rectum adenocarcinoma(159;0.169)		CACAAGTAGCCCCCGTAGTGG	0.647													36	138					0	0	1	0	0	T	65638766	C	T	65638766	3	4	2	1	0	0	0	0	1	0	0	0	4968	623	22	2	1134	2	EFEMP2	11	65638766	Missense_Mutation	SNP	C	TCGA-CS-4941-01A-01D-1468-08	20998565	65638766	69367750	47	74											
CCDC84	338657	broad.mit.edu	37	11	118885707	118885707	+	Missense_Mutation	SNP	C	C	G			TCGA-CS-4941-01A-01D-1468-08	TCGA-CS-4941-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	003ed478-ceca-4752-8ae4-4cf12e6844bd	56e3b45b-55fa-4b7e-8998-920c8125aab1	g.chr11:118885707C>G	ENST00000334418.1	+	9	775	c.719C>G	c.(718-720)gCc>gGc	p.A240G		NM_198489.1	NP_940891.1	Q86UT8	CCD84_HUMAN	coiled-coil domain containing 84	240										breast(1)|kidney(1)|large_intestine(1)|liver(1)|ovary(1)	5	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_neural(223;0.224)|all_hematologic(192;0.243)		BRCA - Breast invasive adenocarcinoma(274;7.72e-05)		TTTTCAGGTGCCACACCTCCC	0.353													31	71					0	0	1	0	0	G	118885707	C	G	118885707	3	3	2	1	0	0	0	0	1	0	0	0	2878	739	26	5	753	5	CCDC84	11	118885707	Missense_Mutation	SNP	C	TCGA-CS-4941-01A-01D-1468-08	53246941	118885707	16120809	48	75											
ACAD8	27034	broad.mit.edu	37	11	134130962	134130962	+	Missense_Mutation	SNP	C	C	G			TCGA-CS-4941-01A-01D-1468-08	TCGA-CS-4941-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	003ed478-ceca-4752-8ae4-4cf12e6844bd	56e3b45b-55fa-4b7e-8998-920c8125aab1	g.chr11:134130962C>G	ENST00000281182.4	+	7	836	c.730C>G	c.(730-732)Cga>Gga	p.R244G	ACAD8_ENST00000543332.1_Missense_Mutation_p.R146G|ACAD8_ENST00000374752.4_Missense_Mutation_p.R117G|ACAD8_ENST00000524547.1_3'UTR|ACAD8_ENST00000537423.1_Missense_Mutation_p.R167G	NM_014384.2	NP_055199.1	Q9UKU7	ACAD8_HUMAN	acyl-CoA dehydrogenase family, member 8	244					branched chain family amino acid catabolic process|lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial matrix	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding	p.R244*(1)		endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	14	all_hematologic(175;0.127)	all_cancers(12;8e-23)|all_epithelial(12;2.59e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|all_neural(223;0.0189)|Medulloblastoma(222;0.0245)|Esophageal squamous(93;0.0559)		Epithelial(10;1.92e-10)|all cancers(11;2.26e-09)|BRCA - Breast invasive adenocarcinoma(10;8.73e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00154)|Lung(977;0.21)		CCAGCCAACACGAGCTGTGAT	0.612													3	23					0	0	1	0	0	G	134130962	C	G	134130962	3	3	2	1	0	0	0	0	1	0	0	0	110	528	19	5	756	5	ACAD8	11	134130962	Missense_Mutation	SNP	C	TCGA-CS-4941-01A-01D-1468-08	15245255	134130962	875554	49	76											
KRT75	9119	broad.mit.edu	37	12	52824475	52824475	+	Missense_Mutation	SNP	C	C	A			TCGA-CS-4941-01A-01D-1468-08	TCGA-CS-4941-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	003ed478-ceca-4752-8ae4-4cf12e6844bd	56e3b45b-55fa-4b7e-8998-920c8125aab1	g.chr12:52824475C>A	ENST00000252245.5	-	5	1105	c.885G>T	c.(883-885)ttG>ttT	p.L295F		NM_004693.2	NP_004684.2	O95678	K2C75_HUMAN	keratin 75	295	Coil 1B.|Rod.					keratin filament	structural molecule activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(10)|prostate(1)|skin(1)	28				BRCA - Breast invasive adenocarcinoma(357;0.192)		CCTGGGTCTGCAACTGGGACA	0.507													3	119					0.115264	0.122125	1	1	0	A	52824475	C	A	52824475	3	1	2	1	0	0	0	0	1	0	0	0	8531	709	25	5	790	5	KRT75	12	52824475	Missense_Mutation	SNP	C	TCGA-CS-4941-01A-01D-1468-08		52824475	81027420	50	77											
FNDC3A	22862	broad.mit.edu	37	13	49772709	49772709	+	Splice_Site	SNP	C	C	A			TCGA-CS-4941-01A-01D-1468-08	TCGA-CS-4941-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	003ed478-ceca-4752-8ae4-4cf12e6844bd	56e3b45b-55fa-4b7e-8998-920c8125aab1	g.chr13:49772709C>A	ENST00000492622.2	+	23	3291	c.2986C>A	c.(2986-2988)Cgg>Agg	p.R996R	FNDC3A_ENST00000398316.3_Splice_Site_p.R940R|FNDC3A_ENST00000541916.1_Splice_Site_p.R996R	NM_001079673.1	NP_001073141.1	Q9Y2H6	FND3A_HUMAN	fibronectin type III domain containing 3A	996	Fibronectin type-III 8.					Golgi membrane|integral to membrane		p.R996W(1)		endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1)	41		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)		TAAGAATGGACGGTAGGTTTT	0.398													3	93					0.115264	0.122125	1	1	0	A	49772709	C	A	49772709	5	1	2	1	0	0	0	0	0	0	1	0	6002	550	19	5	3083	5	FNDC3A	13	49772709	Splice_Site	SNP	C	TCGA-CS-4941-01A-01D-1468-08		49772709	65397169	51	78											
TPP2	7174	broad.mit.edu	37	13	103299660	103299660	+	Missense_Mutation	SNP	G	G	C	rs142623109		TCGA-CS-4941-01A-01D-1468-08	TCGA-CS-4941-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	003ed478-ceca-4752-8ae4-4cf12e6844bd	56e3b45b-55fa-4b7e-8998-920c8125aab1	g.chr13:103299660G>C	ENST00000376052.3	+	21	2610	c.2594G>C	c.(2593-2595)aGa>aCa	p.R865T	TPP2_ENST00000376065.4_Missense_Mutation_p.R865T			P29144	TPP2_HUMAN	tripeptidyl peptidase II	865					proteolysis	cytoplasm|nucleus	aminopeptidase activity|serine-type endopeptidase activity|tripeptidyl-peptidase activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	52	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					CAGAACAAAAGACAGATGGGT	0.388													23	43					0	0	1	0	0	C	103299660	G	C	103299660	3	2	2	1	0	0	0	0	1	0	0	0	16473	942	33	4	2676	4	TPP2	13	103299660	Missense_Mutation	SNP	G	TCGA-CS-4941-01A-01D-1468-08	53526951	103299660	11870218	52	79											
PLA2G4F	255189	broad.mit.edu	37	15	42434838	42434838	+	Silent	SNP	G	G	A			TCGA-CS-4941-01A-01D-1468-08	TCGA-CS-4941-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	003ed478-ceca-4752-8ae4-4cf12e6844bd	56e3b45b-55fa-4b7e-8998-920c8125aab1	g.chr15:42434838G>A	ENST00000397272.3	-	19	2314	c.2223C>T	c.(2221-2223)gaC>gaT	p.D741D	PLA2G4F_ENST00000382396.4_Silent_p.D739D	NM_213600.3	NP_998765.3	Q68DD2	PA24F_HUMAN	phospholipase A2, group IVF	739	PLA2c.				phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.97e-07)		CCTCCTCCATGTCCTCAGGGC	0.592													26	69					0	0	1	0	0	A	42434838	G	A	42434838	2	1	2	1	0	0	0	0	0	0	0	1	12054	1368	48	2		2	PLA2G4F	15	42434838	Silent	SNP	G	TCGA-CS-4941-01A-01D-1468-08		42434838	60096554	53	80											
PKD1	5310	broad.mit.edu	37	16	2164291	2164291	+	Silent	SNP	C	C	A	rs4018173		TCGA-CS-4941-01A-01D-1468-08	TCGA-CS-4941-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	003ed478-ceca-4752-8ae4-4cf12e6844bd	56e3b45b-55fa-4b7e-8998-920c8125aab1	g.chr16:2164291C>A	ENST00000262304.4	-	11	2941	c.2733G>T	c.(2731-2733)gtG>gtT	p.V911V	PKD1_ENST00000423118.1_Silent_p.V911V	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	911	PKD 3.				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						TTTCCACCACCACGTCCACCA	0.697													4	36					0.00198382	0.00217975	1	1	0	A	2164291	C	A	2164291	2	1	2	1	0	0	0	0	0	0	0	1	12011	581	21	5		5	PKD1	16	2164291	Silent	SNP	C	TCGA-CS-4941-01A-01D-1468-08		2164291	88190462	54	81											
RPGRIP1L	23322	broad.mit.edu	37	16	53679916	53679916	+	Splice_Site	SNP	C	C	T			TCGA-CS-4941-01A-01D-1468-08	TCGA-CS-4941-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	003ed478-ceca-4752-8ae4-4cf12e6844bd	56e3b45b-55fa-4b7e-8998-920c8125aab1	g.chr16:53679916C>T	ENST00000262135.4	-	17	2398		c.e17-1		RPGRIP1L_ENST00000564374.1_Splice_Site|RPGRIP1L_ENST00000563746.1_Splice_Site|RPGRIP1L_ENST00000379925.3_Splice_Site	NM_001127897.1	NP_001121369.1	Q68CZ1	FTM_HUMAN	RPGRIP1-like						negative regulation of G-protein coupled receptor protein signaling pathway	cell-cell junction|centrosome|cilium axoneme|microtubule basal body	thromboxane A2 receptor binding			endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2)	46		all_cancers(37;0.0973)				GCTGACTTAACTGGAAAAACA	0.358													21	47					0	0	1	0	0	T	53679916	C	T	53679916	5	4	2	1	0	0	0	0	0	0	1	0	13602	579	20	2	1687	2	RPGRIP1L	16	53679916	Splice_Site	SNP	C	TCGA-CS-4941-01A-01D-1468-08	51515625	53679916	36674837	55	82											
POLR2A	5430	broad.mit.edu	37	17	7414879	7414879	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-4941-01A-01D-1468-08	TCGA-CS-4941-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	003ed478-ceca-4752-8ae4-4cf12e6844bd	56e3b45b-55fa-4b7e-8998-920c8125aab1	g.chr17:7414879C>T	ENST00000322644.6	+	24	4472	c.4073C>T	c.(4072-4074)aCg>aTg	p.T1358M		NM_000937.4	NP_000928	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	1358					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				GTACGCACCACGTCCAATGAC	0.597													8	29					0	0	1	0	0	T	7414879	C	T	7414879	3	4	2	1	0	0	0	0	1	0	0	0	12262	536	19	1	4167	1	POLR2A	17	7414879	Missense_Mutation	SNP	C	TCGA-CS-4941-01A-01D-1468-08		7414879	73780331	56	83											
MYH4	4622	broad.mit.edu	37	17	10368890	10368890	+	Missense_Mutation	SNP	G	G	C			TCGA-CS-4941-01A-01D-1468-08	TCGA-CS-4941-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	003ed478-ceca-4752-8ae4-4cf12e6844bd	56e3b45b-55fa-4b7e-8998-920c8125aab1	g.chr17:10368890G>C	ENST00000255381.2	-	5	484	c.374C>G	c.(373-375)aCc>aGc	p.T125S	RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	125	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						GGGGTTGACGGTGACACAGAA	0.542													3	179					0	0	1	0	0	C	10368890	G	C	10368890	3	2	2	1	0	0	0	0	1	0	0	0	10085	1261	44	5	5589	5	MYH4	17	10368890	Missense_Mutation	SNP	G	TCGA-CS-4941-01A-01D-1468-08	2954011	10368890	70826320	57	84											
PGAP3	93210	broad.mit.edu	37	17	37844245	37844245	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CS-4941-01A-01D-1468-08	TCGA-CS-4941-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	003ed478-ceca-4752-8ae4-4cf12e6844bd	56e3b45b-55fa-4b7e-8998-920c8125aab1	g.chr17:37844245delA	ENST00000300658.4	-	1	115	c.23delT	c.(22-24)ttgfs	p.L8fs	PGAP3_ENST00000378011.4_Frame_Shift_Del_p.L8fs|PGAP3_ENST00000429199.2_Frame_Shift_Del_p.L8fs|PGAP3_ENST00000579146.1_Frame_Shift_Del_p.L8fs|ERBB2_ENST00000584601.1_5'UTR	NM_033419.3	NP_219487.3	Q96FM1	PGAP3_HUMAN	post-GPI attachment to proteins 3	8					GPI anchor biosynthetic process	Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane	hydrolase activity, acting on ester bonds			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12						TAGCAGGACCAACCGCGCCGC	0.672													2	4	---	---	---	---						-	37844245	A	-	37844245	7	5	2	1	0	1	0	1	0	0	0	0	11827	131	5	0	971	0	PGAP3	17	37844245	Frame_Shift_Del	DEL	A	TCGA-CS-4941-01A-01D-1468-08	27475355	37844245	43350965	58	85											
KRT222	125113	broad.mit.edu	37	17	38812821	38812821	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CS-4941-01A-01D-1468-08	TCGA-CS-4941-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	003ed478-ceca-4752-8ae4-4cf12e6844bd	56e3b45b-55fa-4b7e-8998-920c8125aab1	g.chr17:38812821G>A	ENST00000476049.1	-	6	762	c.721C>T	c.(721-723)Cga>Tga	p.R241*	KRT222_ENST00000394052.3_Nonsense_Mutation_p.R241*			Q8N1A0	KT222_HUMAN	keratin 222	241						intermediate filament	structural molecule activity			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|prostate(2)|skin(1)	15						TTCCTCAATCGAGGGTTATCT	0.338													34	85					0	0	1	0	0	A	38812821	G	A	38812821	4	1	2	1	0	0	0	0	0	1	0	0	8502	1066	37	1	170	1	KRT222	17	38812821	Nonsense_Mutation	SNP	G	TCGA-CS-4941-01A-01D-1468-08	968576	38812821	42382389	59	86											
SERPINB7	8710	broad.mit.edu	37	18	61449736	61449736	+	Missense_Mutation	SNP	T	T	A			TCGA-CS-4941-01A-01D-1468-08	TCGA-CS-4941-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	003ed478-ceca-4752-8ae4-4cf12e6844bd	56e3b45b-55fa-4b7e-8998-920c8125aab1	g.chr18:61449736T>A	ENST00000398019.2	+	2	455	c.130T>A	c.(130-132)Ttg>Atg	p.L44M	SERPINB7_ENST00000336429.2_Missense_Mutation_p.L44M|SERPINB7_ENST00000546027.1_Missense_Mutation_p.L44M|SERPINB7_ENST00000540675.1_Missense_Mutation_p.L44M	NM_003784.3	NP_003775.1	O75635	SPB7_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 7	44					regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	27		Esophageal squamous(42;0.129)				CCTGGTCCGCTTGGGCGCTCA	0.473													38	94					0	0	1	0	0	A	61449736	T	A	61449736	3	1	2	1	0	0	0	0	1	0	0	0	14160	1606	56	5	132	5	SERPINB7	18	61449736	Missense_Mutation	SNP	T	TCGA-CS-4941-01A-01D-1468-08		61449736	16627512	60	87											
ZNF675	171392	broad.mit.edu	37	19	23836144	23836144	+	Missense_Mutation	SNP	T	T	A			TCGA-CS-4941-01A-01D-1468-08	TCGA-CS-4941-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	003ed478-ceca-4752-8ae4-4cf12e6844bd	56e3b45b-55fa-4b7e-8998-920c8125aab1	g.chr19:23836144T>A	ENST00000359788.4	-	4	1759	c.1591A>T	c.(1591-1593)Act>Tct	p.T531S	ZNF675_ENST00000596211.1_Intron|ZNF675_ENST00000600313.1_Intron|ZNF675_ENST00000601935.1_Intron	NM_138330.2	NP_612203.2	Q8TD23	ZN675_HUMAN	zinc finger protein 675	531					bone resorption|cytokine-mediated signaling pathway|hemopoiesis|I-kappaB kinase/NF-kappaB cascade|negative regulation of JNK cascade|negative regulation of osteoclast differentiation|negative regulation of protein kinase activity|negative regulation of transcription, DNA-dependent|regulation of ossification|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				TTCTCTCCAGTATGAATTATC	0.343													21	71					0	0	1	0	0	A	23836144	T	A	23836144	3	1	2	1	0	0	0	0	1	0	0	0	18139	1638	57	5	119	5	ZNF675	19	23836144	Missense_Mutation	SNP	T	TCGA-CS-4941-01A-01D-1468-08		23836144	35292839	61	88											
ZNF536	9745	broad.mit.edu	37	19	31038959	31038959	+	Silent	SNP	G	G	A			TCGA-CS-4941-01A-01D-1468-08	TCGA-CS-4941-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	003ed478-ceca-4752-8ae4-4cf12e6844bd	56e3b45b-55fa-4b7e-8998-920c8125aab1	g.chr19:31038959G>A	ENST00000355537.3	+	4	2580	c.2433G>A	c.(2431-2433)ccG>ccA	p.P811P		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	811					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					GGGCTGGGCCGCTGTCTGGGC	0.567													32	90					0	0	1	0	0	A	31038959	G	A	31038959	2	1	2	1	0	0	0	0	0	0	0	1	18031	1074	38	1		1	ZNF536	19	31038959	Silent	SNP	G	TCGA-CS-4941-01A-01D-1468-08	7202815	31038959	28090024	62	89											
KIAA0355	9710	broad.mit.edu	37	19	34832986	34832986	+	Missense_Mutation	SNP	G	G	A			TCGA-CS-4941-01A-01D-1468-08	TCGA-CS-4941-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	003ed478-ceca-4752-8ae4-4cf12e6844bd	56e3b45b-55fa-4b7e-8998-920c8125aab1	g.chr19:34832986G>A	ENST00000299505.6	+	10	3020	c.2147G>A	c.(2146-2148)gGa>gAa	p.G716E		NM_014686.3	NP_055501.2	O15063	K0355_HUMAN	KIAA0355	716										breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	41	Esophageal squamous(110;0.162)					CCCCAGCCGGGACTGGCACCT	0.647													54	142					0	0	1	0	0	A	34832986	G	A	34832986	3	1	2	1	0	0	0	0	1	0	0	0	8212	1174	41	2	2181	2	KIAA0355	19	34832986	Missense_Mutation	SNP	G	TCGA-CS-4941-01A-01D-1468-08	3794027	34832986	24295997	63	90											
TNNT1	7138	broad.mit.edu	37	19	55649402	55649402	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-4941-01A-01D-1468-08	TCGA-CS-4941-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	003ed478-ceca-4752-8ae4-4cf12e6844bd	56e3b45b-55fa-4b7e-8998-920c8125aab1	g.chr19:55649402C>T	ENST00000588981.1	-	10	632	c.428G>A	c.(427-429)cGg>cAg	p.R143Q	TNNT1_ENST00000291901.8_Missense_Mutation_p.R143Q|TNNT1_ENST00000592920.1_5'UTR|TNNT1_ENST00000587758.1_Missense_Mutation_p.R132Q|TNNT1_ENST00000356783.5_Missense_Mutation_p.R132Q|TNNT1_ENST00000587465.2_Missense_Mutation_p.R73Q|TNNT1_ENST00000536926.1_Missense_Mutation_p.R132Q|TNNT1_ENST00000585321.2_Missense_Mutation_p.R73Q|TNNT1_ENST00000588426.1_Missense_Mutation_p.R40Q	NM_003283.4	NP_003274.3	P13805	TNNT1_HUMAN	troponin T type 1 (skeletal, slow)	143					muscle filament sliding|negative regulation of muscle contraction	cytosol|troponin complex	tropomyosin binding			endometrium(2)|kidney(3)|lung(4)|ovary(1)	10			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.047)		ATCCTCTGCCCGCTTCTTGGC	0.572													32	97					0	0	1	0	0	T	55649402	C	T	55649402	3	4	2	1	0	0	0	0	1	0	0	0	16390	652	23	1	428	1	TNNT1	19	55649402	Missense_Mutation	SNP	C	TCGA-CS-4941-01A-01D-1468-08	20816416	55649402	3479581	64	91											
PLCG1	5335	broad.mit.edu	37	20	39802384	39802384	+	Missense_Mutation	SNP	G	G	A			TCGA-CS-4941-01A-01D-1468-08	TCGA-CS-4941-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	003ed478-ceca-4752-8ae4-4cf12e6844bd	56e3b45b-55fa-4b7e-8998-920c8125aab1	g.chr20:39802384G>A	ENST00000373272.2	+	29	3892	c.3487G>A	c.(3487-3489)Gag>Aag	p.E1163K	PLCG1_ENST00000608689.1_3'UTR|PLCG1_ENST00000373271.1_Missense_Mutation_p.E1163K|PLCG1_ENST00000244007.3_Missense_Mutation_p.E1163K	NM_002660.2	NP_002651.2	P19174	PLCG1_HUMAN	phospholipase C, gamma 1	1163	C2.				activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration|T cell receptor signaling pathway	cytosol|lamellipodium|plasma membrane|ruffle	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity			breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2)	46		Myeloproliferative disorder(115;0.00878)				CGTGGTGTATGAGGAAGACAT	0.517											OREG0025953	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	54	121					0	0	1	0	0	A	39802384	G	A	39802384	3	1	2	1	0	0	0	0	1	0	0	0	12083	1291	45	2	3601	2	PLCG1	20	39802384	Missense_Mutation	SNP	G	TCGA-CS-4941-01A-01D-1468-08		39802384	23223136	65	92											
KRTAP21-2	337978	broad.mit.edu	37	21	32119504	32119504	+	Missense_Mutation	SNP	T	T	C	rs145167151		TCGA-CS-4941-01A-01D-1468-08	TCGA-CS-4941-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	003ed478-ceca-4752-8ae4-4cf12e6844bd	56e3b45b-55fa-4b7e-8998-920c8125aab1	g.chr21:32119504T>C	ENST00000333892.2	-	1	47	c.17A>G	c.(16-18)tAc>tGc	p.Y6C		NM_181617.1	NP_853648.1	Q3LI59	KR212_HUMAN	keratin associated protein 21-2	6						intermediate filament				lung(4)|skin(2)|upper_aerodigestive_tract(1)	7						GCAGTTTCTGTAGTAGTTGCA	0.468													50	106					0	0	1	0	0	C	32119504	T	C	32119504	3	2	2	1	0	0	0	0	1	0	0	0	8582	1638	57	3	236	3	KRTAP21-2	21	32119504	Missense_Mutation	SNP	T	TCGA-CS-4941-01A-01D-1468-08		32119504	16010391	66	93											
ABCG1	9619	broad.mit.edu	37	21	43708163	43708163	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CS-4941-01A-01D-1468-08	TCGA-CS-4941-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	003ed478-ceca-4752-8ae4-4cf12e6844bd	56e3b45b-55fa-4b7e-8998-920c8125aab1	g.chr21:43708163C>T	ENST00000398437.1	+	10	1724	c.1576C>T	c.(1576-1578)Cga>Tga	p.R526*	ABCG1_ENST00000398449.3_Intron|ABCG1_ENST00000462050.1_Intron|ABCG1_ENST00000398457.2_Intron|ABCG1_ENST00000347800.2_Intron|ABCG1_ENST00000361802.2_Nonsense_Mutation_p.R380*|ABCG1_ENST00000343687.3_Intron|ABCG1_ENST00000340588.4_Nonsense_Mutation_p.R488*			P45844	ABCG1_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 1	380	ABC transmembrane type-2.				amyloid precursor protein catabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|detection of hormone stimulus|high-density lipoprotein particle remodeling|intracellular cholesterol transport|lipoprotein metabolic process|low-density lipoprotein particle remodeling|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|positive regulation of cholesterol biosynthetic process|regulation of cholesterol esterification|regulation of transcription, DNA-dependent|response to lipid|reverse cholesterol transport	endoplasmic reticulum membrane|external side of plasma membrane|Golgi membrane|recycling endosome	ADP binding|ATP binding|cholesterol transporter activity|glycoprotein transporter activity|phospholipid transporter activity|protein heterodimerization activity|protein homodimerization activity|sterol-transporting ATPase activity|toxin transporter activity			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(3)|prostate(2)|stomach(1)	29					Adenosine triphosphate(DB00171)	GCAGACAAAACGATTAAAGGG	0.562													22	181					0	0	1	0	0	T	43708163	C	T	43708163	4	4	2	1	0	0	0	0	0	1	0	0	68	528	19	1	1340	1	ABCG1	21	43708163	Nonsense_Mutation	SNP	C	TCGA-CS-4941-01A-01D-1468-08	11588659	43708163	4421732	67	94											
DDX3X	1654	broad.mit.edu	37	X	41204458	41204458	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-4941-01A-01D-1468-08	TCGA-CS-4941-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	003ed478-ceca-4752-8ae4-4cf12e6844bd	56e3b45b-55fa-4b7e-8998-920c8125aab1	g.chrX:41204458C>T	ENST00000399959.2	+	11	1906	c.1051C>T	c.(1051-1053)Cgg>Tgg	p.R351W	DDX3X_ENST00000542215.1_3'UTR|DDX3X_ENST00000478993.1_3'UTR|DDX3X_ENST00000441189.2_Intron|DDX3X_ENST00000457138.2_Missense_Mutation_p.R335W	NM_001193416.1|NM_001193417.1|NM_001356.3	NP_001180345.1|NP_001180346.1|NP_001347.3	O00571	DDX3X_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked	351	Helicase ATP-binding.|Necessary for interaction with XPO1.				interspecies interaction between organisms	cytoplasm|nuclear speck	ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding|RNA binding			NS(3)|breast(8)|central_nervous_system(36)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84						TGAAGCTGATCGGATGTTGGA	0.408										HNSCC(61;0.18)			60	49					0	0	1	0	0	T	41204458	C	T	41204458	3	4	2	1	0	0	0	0	1	0	0	0	4381	875	31	1	1093	1	DDX3X	23	41204458	Missense_Mutation	SNP	C	TCGA-CS-4941-01A-01D-1468-08		41204458	114066102	68	95											
RGAG1	57529	broad.mit.edu	37	X	109695334	109695334	+	Missense_Mutation	SNP	A	A	T			TCGA-CS-4941-01A-01D-1468-08	TCGA-CS-4941-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	003ed478-ceca-4752-8ae4-4cf12e6844bd	56e3b45b-55fa-4b7e-8998-920c8125aab1	g.chrX:109695334A>T	ENST00000465301.2	+	3	1735	c.1489A>T	c.(1489-1491)Atg>Ttg	p.M497L	RGAG1_ENST00000540313.1_Missense_Mutation_p.M497L	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	497										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						CTCTGGAAAGATGTCCACGCC	0.507													66	62					0	0	1	0	0	T	109695334	A	T	109695334	3	4	2	1	0	0	0	0	1	0	0	0	13326	333	12	4	1491	4	RGAG1	23	109695334	Missense_Mutation	SNP	A	TCGA-CS-4941-01A-01D-1468-08	68490876	109695334	45575226	69	96											
AGTR2	186	broad.mit.edu	37	X	115303726	115303726	+	Missense_Mutation	SNP	G	G	A			TCGA-CS-4941-01A-01D-1468-08	TCGA-CS-4941-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	003ed478-ceca-4752-8ae4-4cf12e6844bd	56e3b45b-55fa-4b7e-8998-920c8125aab1	g.chrX:115303726G>A	ENST00000371906.4	+	3	383	c.193G>A	c.(193-195)Gtg>Atg	p.V65M		NM_000686.4	NP_000677.2	P50052	AGTR2_HUMAN	angiotensin II receptor, type 2	65					behavior|blood vessel remodeling|brain development|G-protein signaling, coupled to cGMP nucleotide second messenger|intracellular protein kinase cascade|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of heart rate|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of nitric-oxide synthase activity|positive regulation of phosphoprotein phosphatase activity|positive regulation of vasodilation|regulation of systemic arterial blood pressure by circulatory renin-angiotensin		angiotensin type II receptor activity|receptor antagonist activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|skin(1)	24						CAATATTGTCGTGGTTACACT	0.363													5	141					0	0	1	0	0	A	115303726	G	A	115303726	3	1	2	1	0	0	0	0	1	0	0	0	399	1145	40	1	195	1	AGTR2	23	115303726	Missense_Mutation	SNP	G	TCGA-CS-4941-01A-01D-1468-08	5608392	115303726	39966834	70	97											
SMARCA1	6594	broad.mit.edu	37	X	128632026	128632026	+	Missense_Mutation	SNP	C	C	G	rs35325660		TCGA-CS-4941-01A-01D-1468-08	TCGA-CS-4941-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	003ed478-ceca-4752-8ae4-4cf12e6844bd	56e3b45b-55fa-4b7e-8998-920c8125aab1	g.chrX:128632026C>G	ENST00000371122.4	-	11	1429	c.1300G>C	c.(1300-1302)Gat>Cat	p.D434H	SMARCA1_ENST00000371121.3_Missense_Mutation_p.D434H|SMARCA1_ENST00000371123.1_Missense_Mutation_p.D434H	NM_003069.3	NP_003060.2	P28370	SMCA1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1	434					ATP-dependent chromatin remodeling|brain development|neuron differentiation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	NURF complex	ATP binding|DNA binding|helicase activity|nucleosome binding|protein binding			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1)	45						ACATCAATATCTTTCATCAGG	0.308													18	18					0	0	1	0	0	G	128632026	C	G	128632026	3	3	2	1	0	0	0	0	1	0	0	0	14822	913	32	4	1920	4	SMARCA1	23	128632026	Missense_Mutation	SNP	C	TCGA-CS-4941-01A-01D-1468-08	13328300	128632026	26638534	71	98											
STIL	6491	broad.mit.edu	37	1	47728685	47728685	+	Missense_Mutation	SNP	C	C	A			TCGA-CS-4942-01A-01D-1468-08	TCGA-CS-4942-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee5832e7-577c-4507-a4fd-a70646fabc24	f2b83686-8044-4e74-9554-8b4d3c40b2b2	g.chr1:47728685C>A	ENST00000360380.3	-	16	3079	c.2716G>T	c.(2716-2718)Ggg>Tgg	p.G906W	STIL_ENST00000243182.6_Missense_Mutation_p.G906W|STIL_ENST00000337817.5_Missense_Mutation_p.G906W|STIL_ENST00000371877.3_Missense_Mutation_p.G907W|STIL_ENST00000396221.2_Missense_Mutation_p.G889W	NM_001282936.1	NP_001269865.1	Q15468	STIL_HUMAN	SCL/TAL1 interrupting locus	906					cell proliferation|multicellular organismal development	centrosome|cytosol				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	36		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)				CTGGCACCCCCTGTTGGTCCA	0.428													4	179					0.150653	0.165472	0.150653	1	0	A	47728685	C	A	47728685	3	1	3	1	0	0	0	0	1	0	0	0	15338	681	24	4	1159	4	STIL	1	47728685	Missense_Mutation	SNP	C	TCGA-CS-4942-01A-01D-1468-08		47728685	201521936	1	99											
CCDC18	343099	broad.mit.edu	37	1	93646284	93646284	+	Missense_Mutation	SNP	T	T	C			TCGA-CS-4942-01A-01D-1468-08	TCGA-CS-4942-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee5832e7-577c-4507-a4fd-a70646fabc24	f2b83686-8044-4e74-9554-8b4d3c40b2b2	g.chr1:93646284T>C	ENST00000557479.1	+	1	365	c.197T>C	c.(196-198)tTc>tCc	p.F66S	TMED5_ENST00000370282.3_5'UTR|CCDC18_ENST00000401026.3_5'UTR|CCDC18_ENST00000334652.5_5'UTR|CCDC18_ENST00000343253.7_Intron|CCDC18_ENST00000338949.4_5'UTR	NM_206886.3	NP_996769.3	Q5T9S5	CCD18_HUMAN	coiled-coil domain containing 18	0										breast(5)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967)		CCGCGGCGGTTCGAATTCTGT	0.706													2	14					0	0	0.115264	0	0	C	93646284	T	C	93646284	3	2	3	1	0	0	0	0	1	0	0	0	2813	1783	62	3	199	3	CCDC18	1	93646284	Missense_Mutation	SNP	T	TCGA-CS-4942-01A-01D-1468-08	45917599	93646284	155604337	2	100											
LRRC52	440699	broad.mit.edu	37	1	165513828	165513828	+	Missense_Mutation	SNP	G	G	T			TCGA-CS-4942-01A-01D-1468-08	TCGA-CS-4942-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee5832e7-577c-4507-a4fd-a70646fabc24	f2b83686-8044-4e74-9554-8b4d3c40b2b2	g.chr1:165513828G>T	ENST00000294818.1	+	1	585	c.295G>T	c.(295-297)Ggg>Tgg	p.G99W	RP11-280O1.2_ENST00000416424.1_RNA|RP11-280O1.2_ENST00000438275.1_RNA|RP11-280O1.2_ENST00000421273.1_RNA	NM_001005214.3	NP_001005214.2	Q8N7C0	LRC52_HUMAN	leucine rich repeat containing 52	99						integral to membrane				NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)	18	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)					TACCTTCATCGGGGTCTTCAA	0.483													5	316					0.000602214	0.000707866	0.184627	1	0	T	165513828	G	T	165513828	3	4	3	1	0	0	0	0	1	0	0	0	9055	1116	39	5	297	5	LRRC52	1	165513828	Missense_Mutation	SNP	G	TCGA-CS-4942-01A-01D-1468-08	71867544	165513828	83736793	3	101											
ASPM	259266	broad.mit.edu	37	1	197072215	197072215	+	Missense_Mutation	SNP	C	C	G			TCGA-CS-4942-01A-01D-1468-08	TCGA-CS-4942-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee5832e7-577c-4507-a4fd-a70646fabc24	f2b83686-8044-4e74-9554-8b4d3c40b2b2	g.chr1:197072215C>G	ENST00000367409.4	-	18	6422	c.6166G>C	c.(6166-6168)Gct>Cct	p.A2056P	ASPM_ENST00000294732.7_Intron|ASPM_ENST00000367408.1_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	2056	IQ 15.				mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						GTTTTGTAAGCTCTGTATTTA	0.343													95	193					0	0	0.870114	0	0	G	197072215	C	G	197072215	3	3	3	1	0	0	0	0	1	0	0	0	1055	797	28	4	4311	4	ASPM	1	197072215	Missense_Mutation	SNP	C	TCGA-CS-4942-01A-01D-1468-08	31558387	197072215	52178406	4	102											
CENPF	1063	broad.mit.edu	37	1	214832292	214832292	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-4942-01A-01D-1468-08	TCGA-CS-4942-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee5832e7-577c-4507-a4fd-a70646fabc24	f2b83686-8044-4e74-9554-8b4d3c40b2b2	g.chr1:214832292C>T	ENST00000366955.3	+	19	9230	c.9062C>T	c.(9061-9063)gCg>gTg	p.A3021V		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	3117	Sufficient for centromere localization.|Sufficient for nuclear localization.				cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		CAGAAGTTAGCGCTATCCCCA	0.527											OREG0014250	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	198					0	0	0.217242	0	0	T	214832292	C	T	214832292	3	4	3	1	0	0	0	0	1	0	0	0	3253	768	27	1	9132	1	CENPF	1	214832292	Missense_Mutation	SNP	C	TCGA-CS-4942-01A-01D-1468-08	17760077	214832292	34418329	5	103											
CEP170	9859	broad.mit.edu	37	1	243328278	243328278	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-4942-01A-01D-1468-08	TCGA-CS-4942-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee5832e7-577c-4507-a4fd-a70646fabc24	f2b83686-8044-4e74-9554-8b4d3c40b2b2	g.chr1:243328278C>T	ENST00000366542.1	-	13	3035	c.2984G>A	c.(2983-2985)cGt>cAt	p.R995H	RP11-261C10.4_ENST00000437499.1_RNA|CEP170_ENST00000366544.1_Missense_Mutation_p.R897H|CEP170_ENST00000366543.1_Missense_Mutation_p.R897H|RP11-261C10.4_ENST00000422938.1_RNA	NM_014812.2	NP_055627.2	Q5SW79	CE170_HUMAN	centrosomal protein 170kDa	995	Targeting to microtubules.					centriole|microtubule|spindle				NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	62	all_neural(11;0.101)	all_cancers(173;0.003)	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)			ATCTGTGGAACGACTTTTTGT	0.408													14	105					0	0	0.639603	0	0	T	243328278	C	T	243328278	3	4	3	1	0	0	0	0	1	0	0	0	3272	536	19	1	1832	1	CEP170	1	243328278	Missense_Mutation	SNP	C	TCGA-CS-4942-01A-01D-1468-08	28495986	243328278	5922343	6	104											
OR6F1	343169	broad.mit.edu	37	1	247875530	247875530	+	Missense_Mutation	SNP	G	G	T	rs144069302		TCGA-CS-4942-01A-01D-1468-08	TCGA-CS-4942-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee5832e7-577c-4507-a4fd-a70646fabc24	f2b83686-8044-4e74-9554-8b4d3c40b2b2	g.chr1:247875530G>T	ENST00000302084.2	-	1	575	c.528C>A	c.(526-528)caC>caA	p.H176Q	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005286.1	NP_001005286.1	Q8NGZ6	OR6F1_HUMAN	olfactory receptor, family 6, subfamily F, member 1	176					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47	all_cancers(71;3.24e-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)		OV - Ovarian serous cystadenocarcinoma(106;0.0168)			CACAGAAGAAGTGGTTGATGG	0.577													6	166					0.00198382	0.00229165	0.248553	1	0	T	247875530	G	T	247875530	3	4	3	1	0	0	0	0	1	0	0	0	11248	1020	36	4	402	4	OR6F1	1	247875530	Missense_Mutation	SNP	G	TCGA-CS-4942-01A-01D-1468-08	4547252	247875530	1375091	7	105											
OR2W3	343171	broad.mit.edu	37	1	248058977	248058977	+	Missense_Mutation	SNP	T	T	C			TCGA-CS-4942-01A-01D-1468-08	TCGA-CS-4942-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee5832e7-577c-4507-a4fd-a70646fabc24	f2b83686-8044-4e74-9554-8b4d3c40b2b2	g.chr1:248058977T>C	ENST00000537741.1	+	3	346	c.89T>C	c.(88-90)gTc>gCc	p.V30A	OR2W3_ENST00000360358.3_Missense_Mutation_p.V30A			Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W, member 3	30					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			CTCTTTGTGGTCATCCTGATC	0.567													3	155					0	0	0.115264	0	0	C	248058977	T	C	248058977	3	2	3	1	0	0	0	0	1	0	0	0	11081	1667	58	3	91	3	OR2W3	1	248058977	Missense_Mutation	SNP	T	TCGA-CS-4942-01A-01D-1468-08	183447	248058977	1191644	8	106											
KRTCAP3	200634	broad.mit.edu	37	2	27665528	27665528	+	Silent	SNP	C	C	T			TCGA-CS-4942-01A-01D-1468-08	TCGA-CS-4942-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee5832e7-577c-4507-a4fd-a70646fabc24	f2b83686-8044-4e74-9554-8b4d3c40b2b2	g.chr2:27665528C>T	ENST00000543753.1	+	2	158	c.111C>T	c.(109-111)gcC>gcT	p.A37A	KRTCAP3_ENST00000407293.1_Silent_p.A19A|KRTCAP3_ENST00000288873.3_Silent_p.A37A	NM_001168364.1	NP_001161836.1	Q53RY4	KCP3_HUMAN	keratinocyte associated protein 3	37						integral to membrane				large_intestine(1)|lung(2)	3	Acute lymphoblastic leukemia(172;0.155)					TGCTGGGGGCCGTGCTGCATG	0.706													12	21					0	0	0.457914	0	0	T	27665528	C	T	27665528	2	4	3	1	0	0	0	0	0	0	0	1	8618	639	23	1		1	KRTCAP3	2	27665528	Silent	SNP	C	TCGA-CS-4942-01A-01D-1468-08		27665528	215533845	9	107											
POLR1A	25885	broad.mit.edu	37	2	86316951	86316951	+	Silent	SNP	G	G	A			TCGA-CS-4942-01A-01D-1468-08	TCGA-CS-4942-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee5832e7-577c-4507-a4fd-a70646fabc24	f2b83686-8044-4e74-9554-8b4d3c40b2b2	g.chr2:86316951G>A	ENST00000263857.6	-	4	912	c.534C>T	c.(532-534)ggC>ggT	p.G178G	POLR1A_ENST00000409681.1_Silent_p.G178G			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	178					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						TCACATGTGCGCCCTGGGACC	0.458													40	86					0	0	0.864702	0	0	A	86316951	G	A	86316951	2	1	3	1	0	0	0	0	0	0	0	1	12257	1074	38	1		1	POLR1A	2	86316951	Silent	SNP	G	TCGA-CS-4942-01A-01D-1468-08	58651423	86316951	156882422	10	108											
SLC9A4	389015	broad.mit.edu	37	2	103149082	103149082	+	Missense_Mutation	SNP	A	A	G			TCGA-CS-4942-01A-01D-1468-08	TCGA-CS-4942-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee5832e7-577c-4507-a4fd-a70646fabc24	f2b83686-8044-4e74-9554-8b4d3c40b2b2	g.chr2:103149082A>G	ENST00000295269.4	+	12	2789	c.2332A>G	c.(2332-2334)Aca>Gca	p.T778A		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	778					regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						GTCGAGGTGGACAGCTGACCA	0.502													13	23					0	0	0.457914	0	0	G	103149082	A	G	103149082	3	3	3	1	0	0	0	0	1	0	0	0	14771	275	10	3	2378	3	SLC9A4	2	103149082	Missense_Mutation	SNP	A	TCGA-CS-4942-01A-01D-1468-08	16832131	103149082	140050291	11	109											
ACTR3	10096	broad.mit.edu	37	2	114699855	114699855	+	Silent	SNP	C	C	T			TCGA-CS-4942-01A-01D-1468-08	TCGA-CS-4942-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee5832e7-577c-4507-a4fd-a70646fabc24	f2b83686-8044-4e74-9554-8b4d3c40b2b2	g.chr2:114699855C>T	ENST00000263238.2	+	8	1097	c.777C>T	c.(775-777)atC>atT	p.I259I	ACTR3_ENST00000535589.2_Silent_p.I208I|ACTR3_ENST00000536059.1_Silent_p.I197I	NM_001277140.1|NM_005721.3	NP_001264069.1|NP_005712.1	P61158	ARP3_HUMAN	ARP3 actin-related protein 3 homolog (yeast)	259					cellular component movement|cilium morphogenesis	Arp2/3 protein complex	actin binding|ATP binding			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(2)	15						ATACTGGAATCAATGCTATCT	0.328													55	77					0	0	0.870114	0	0	T	114699855	C	T	114699855	2	4	3	1	0	0	0	0	0	0	0	1	212	816	29	2		2	ACTR3	2	114699855	Silent	SNP	C	TCGA-CS-4942-01A-01D-1468-08	11550773	114699855	128499518	12	110											
PRKRA	8575	broad.mit.edu	37	2	179314991	179314991	+	Silent	SNP	G	G	T			TCGA-CS-4942-01A-01D-1468-08	TCGA-CS-4942-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee5832e7-577c-4507-a4fd-a70646fabc24	f2b83686-8044-4e74-9554-8b4d3c40b2b2	g.chr2:179314991G>T	ENST00000325748.4	-	2	413	c.213C>A	c.(211-213)acC>acA	p.T71T	PRKRA_ENST00000470200.1_5'UTR|PRKRA_ENST00000432031.2_Silent_p.T60T|PRKRA_ENST00000487082.1_Silent_p.T46T|PRKRA_ENST00000438687.3_5'UTR	NM_003690.4	NP_003681.1	O75569	PRKRA_HUMAN	protein kinase, interferon-inducible double stranded RNA dependent activator	71	DRBM 1.|Sufficient for self-association and interaction with TARBP2.				immune response|negative regulation of cell proliferation|production of siRNA involved in RNA interference|response to virus	perinuclear region of cytoplasm	double-stranded RNA binding|enzyme activator activity|protein homodimerization activity			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(2)	19			OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.00634)|all cancers(119;0.0265)			TGTCACCAACGGTTACTCTGA	0.438													4	324					0.150653	0.165472	0.150653	1	0	T	179314991	G	T	179314991	2	4	3	1	0	0	0	0	0	0	0	1	12576	1103	39	5		5	PRKRA	2	179314991	Silent	SNP	G	TCGA-CS-4942-01A-01D-1468-08	64615136	179314991	63884382	13	111											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-CS-4942-01A-01D-1468-08	TCGA-CS-4942-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee5832e7-577c-4507-a4fd-a70646fabc24	f2b83686-8044-4e74-9554-8b4d3c40b2b2	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	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								33	70					0	0	0.769981	0	0	T	209113112	C	T	209113112	3	4	3	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-CS-4942-01A-01D-1468-08	29798121	209113112	34086261	14	112											
LAMB2	3913	broad.mit.edu	37	3	49159715	49159715	+	Silent	SNP	G	G	A			TCGA-CS-4942-01A-01D-1468-08	TCGA-CS-4942-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee5832e7-577c-4507-a4fd-a70646fabc24	f2b83686-8044-4e74-9554-8b4d3c40b2b2	g.chr3:49159715G>A	ENST00000418109.1	-	29	4826	c.4662C>T	c.(4660-4662)caC>caT	p.H1554H	LAMB2_ENST00000305544.4_Silent_p.H1554H	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN	laminin, beta 2 (laminin S)	1554	Domain I.				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity			NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CACCCGCCAGGTGCTGGATCT	0.597													34	71					0	0	0.827153	0	0	A	49159715	G	A	49159715	2	1	3	1	0	0	0	0	0	0	0	1	8650	1252	44	2		2	LAMB2	3	49159715	Silent	SNP	G	TCGA-CS-4942-01A-01D-1468-08		49159715	148862715	15	113											
POC1A	25886	broad.mit.edu	37	3	52159164	52159164	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-4942-01A-01D-1468-08	TCGA-CS-4942-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee5832e7-577c-4507-a4fd-a70646fabc24	f2b83686-8044-4e74-9554-8b4d3c40b2b2	g.chr3:52159164C>T	ENST00000394970.2	-	8	1164	c.847G>A	c.(847-849)Ggg>Agg	p.G283R	POC1A_ENST00000474012.1_Missense_Mutation_p.G245R|POC1A_ENST00000296484.2_Missense_Mutation_p.G283R	NM_001161580.1	NP_001155052.1	Q8NBT0	POC1A_HUMAN	POC1 centriolar protein A	283						centriole|microtubule basal body				endometrium(1)|large_intestine(4)|liver(1)|lung(4)|prostate(3)|skin(1)	14						AAATACTCCCCCGTTCTTGAA	0.433													31	76					0	0	0.788014	0	0	T	52159164	C	T	52159164	3	4	3	1	0	0	0	0	1	0	0	0	12223	623	22	2	392	2	POC1A	3	52159164	Missense_Mutation	SNP	C	TCGA-CS-4942-01A-01D-1468-08	2999449	52159164	145863266	16	114											
GOLGB1	2804	broad.mit.edu	37	3	121415996	121415996	+	Missense_Mutation	SNP	G	G	T			TCGA-CS-4942-01A-01D-1468-08	TCGA-CS-4942-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee5832e7-577c-4507-a4fd-a70646fabc24	f2b83686-8044-4e74-9554-8b4d3c40b2b2	g.chr3:121415996G>T	ENST00000393667.3	-	13	3484	c.3374C>A	c.(3373-3375)gCa>gAa	p.A1125E	GOLGB1_ENST00000340645.5_Missense_Mutation_p.A1120E	NM_001256486.1	NP_001243415.1	Q14789	GOGB1_HUMAN	golgin B1	1120					Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		CTGGATAATTGCTTGGTTTTC	0.418													4	279					0.184627	0.199517	0.184627	1	0	T	121415996	G	T	121415996	3	4	3	1	0	0	0	0	1	0	0	0	6604	1319	46	5	6460	5	GOLGB1	3	121415996	Missense_Mutation	SNP	G	TCGA-CS-4942-01A-01D-1468-08	69256832	121415996	76606434	17	115											
TBC1D9	23158	broad.mit.edu	37	4	141578954	141578954	+	Missense_Mutation	SNP	T	T	C			TCGA-CS-4942-01A-01D-1468-08	TCGA-CS-4942-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee5832e7-577c-4507-a4fd-a70646fabc24	f2b83686-8044-4e74-9554-8b4d3c40b2b2	g.chr4:141578954T>C	ENST00000442267.2	-	12	2008	c.1934A>G	c.(1933-1935)gAc>gGc	p.D645G		NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	645	Rab-GAP TBC.					intracellular	calcium ion binding|Rab GTPase activator activity			endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				GACACCTTGGTCCACCAGTGC	0.502													96	154					0	0	0.870114	0	0	C	141578954	T	C	141578954	3	2	3	1	0	0	0	0	1	0	0	0	15687	1667	58	3	1906	3	TBC1D9	4	141578954	Missense_Mutation	SNP	T	TCGA-CS-4942-01A-01D-1468-08		141578954	49575322	18	116											
GLRB	2743	broad.mit.edu	37	4	158065079	158065079	+	Missense_Mutation	SNP	A	A	G			TCGA-CS-4942-01A-01D-1468-08	TCGA-CS-4942-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee5832e7-577c-4507-a4fd-a70646fabc24	f2b83686-8044-4e74-9554-8b4d3c40b2b2	g.chr4:158065079A>G	ENST00000264428.4	+	8	1142	c.872A>G	c.(871-873)aAc>aGc	p.N291S	GLRB_ENST00000541722.1_Missense_Mutation_p.N291S|GLRB_ENST00000509282.1_Missense_Mutation_p.N291S|GLRB_ENST00000512619.1_Intron	NM_000824.4	NP_000815.1	P48167	GLRB_HUMAN	glycine receptor, beta	291					nervous system development|neuropeptide signaling pathway|startle response	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|protein binding|receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(6)|skin(5)|upper_aerodigestive_tract(1)	27	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707)	Glycine(DB00145)	TTCTGGATCAACCCGGACGCG	0.488													11	166					0	0	0.38729	0	0	G	158065079	A	G	158065079	3	3	3	1	0	0	0	0	1	0	0	0	6500	43	2	3	898	3	GLRB	4	158065079	Missense_Mutation	SNP	A	TCGA-CS-4942-01A-01D-1468-08	16486125	158065079	33089197	19	117											
CDC20B	166979	broad.mit.edu	37	5	54436230	54436230	+	Silent	SNP	G	G	A			TCGA-CS-4942-01A-01D-1468-08	TCGA-CS-4942-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee5832e7-577c-4507-a4fd-a70646fabc24	f2b83686-8044-4e74-9554-8b4d3c40b2b2	g.chr5:54436230G>A	ENST00000334206.5	-	5	668	c.492C>T	c.(490-492)tgC>tgT	p.C164C	CDC20B_ENST00000381375.2_Silent_p.C164C|CDC20B_ENST00000296733.1_Silent_p.C164C|CDC20B_ENST00000331730.3_Silent_p.C143C|CDC20B_ENST00000322374.6_Silent_p.C164C			Q86Y33	CD20B_HUMAN	cell division cycle 20B	164										kidney(1)|large_intestine(5)|lung(7)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	19		Lung NSC(810;0.000744)|Breast(144;0.159)|Prostate(74;0.194)	LUSC - Lung squamous cell carcinoma(15;0.225)			GTTGTTTTAGGCATTTCTGAA	0.333													26	63					0	0	0.693898	0	0	A	54436230	G	A	54436230	2	1	3	1	0	0	0	0	0	0	0	1	3082	1195	42	2		2	CDC20B	5	54436230	Silent	SNP	G	TCGA-CS-4942-01A-01D-1468-08		54436230	126479030	20	118											
PIK3R1	5295	broad.mit.edu	37	5	67575480	67575480	+	Missense_Mutation	SNP	G	G	A			TCGA-CS-4942-01A-01D-1468-08	TCGA-CS-4942-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee5832e7-577c-4507-a4fd-a70646fabc24	f2b83686-8044-4e74-9554-8b4d3c40b2b2	g.chr5:67575480G>A	ENST00000521381.1	+	5	1169	c.553G>A	c.(553-555)Gct>Act	p.A185T	PIK3R1_ENST00000396611.1_Missense_Mutation_p.A185T|PIK3R1_ENST00000274335.5_Missense_Mutation_p.A185T|PIK3R1_ENST00000521657.1_Missense_Mutation_p.A185T	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	185	Rho-GAP.				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	TTTGGCTGACGCTTTCAAACG	0.383			"Mis, F, O"		"gliobastoma, ovarian, colorectal"					TCGA GBM(4;<1E-08)			20	174					0	0	0.667858	0	0	A	67575480	G	A	67575480	3	1	3	1	0	0	0	0	1	0	0	0	11966	1087	38	1	567	1	PIK3R1	5	67575480	Missense_Mutation	SNP	G	TCGA-CS-4942-01A-01D-1468-08	13139250	67575480	113339780	21	119											
HLA-DRA	3122	broad.mit.edu	37	6	32410420	32410420	+	Missense_Mutation	SNP	C	C	A			TCGA-CS-4942-01A-01D-1468-08	TCGA-CS-4942-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee5832e7-577c-4507-a4fd-a70646fabc24	f2b83686-8044-4e74-9554-8b4d3c40b2b2	g.chr6:32410420C>A	ENST00000395388.2	+	2	387	c.278C>A	c.(277-279)gCc>gAc	p.A93D	HLA-DRA_ENST00000374982.5_Missense_Mutation_p.A93D	NM_019111.4	NP_061984.2	P01903	DRA_HUMAN	major histocompatibility complex, class II, DR alpha	93	Alpha-1.				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|Golgi apparatus|integral to plasma membrane|late endosome membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity			NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	19						GTGGACAAAGCCAACCTGGAA	0.493									T-cell Lymphoma, (Cutaneous) , Familial Clustering of;Kaposi Sarcoma, Familial Clustering of				80	147					2.08937e-45	2.59237e-45	0.870114	1	0	A	32410420	C	A	32410420	3	1	3	1	0	0	0	0	1	0	0	0	7248	739	26	5	284	5	HLA-DRA	6	32410420	Missense_Mutation	SNP	C	TCGA-CS-4942-01A-01D-1468-08		32410420	138704647	22	120											
DNAH8	1769	broad.mit.edu	37	6	38885723	38885723	+	Missense_Mutation	SNP	T	T	C			TCGA-CS-4942-01A-01D-1468-08	TCGA-CS-4942-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee5832e7-577c-4507-a4fd-a70646fabc24	f2b83686-8044-4e74-9554-8b4d3c40b2b2	g.chr6:38885723T>C	ENST00000359357.3	+	68	9934	c.9680T>C	c.(9679-9681)cTg>cCg	p.L3227P	DNAH8_ENST00000449981.2_Missense_Mutation_p.L3444P|DNAH8_ENST00000441566.1_Missense_Mutation_p.L3191P					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						ACAGGATTCCTGTGGAGCCTT	0.343													3	124					0	0	0.115264	0	0	C	38885723	T	C	38885723	3	2	3	1	0	0	0	0	1	0	0	0	4634	1580	55	3	9942	3	DNAH8	6	38885723	Missense_Mutation	SNP	T	TCGA-CS-4942-01A-01D-1468-08	6475303	38885723	132229344	23	121											
ZNF292	23036	broad.mit.edu	37	6	87964677	87964677	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-4942-01A-01D-1468-08	TCGA-CS-4942-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee5832e7-577c-4507-a4fd-a70646fabc24	f2b83686-8044-4e74-9554-8b4d3c40b2b2	g.chr6:87964677C>T	ENST00000369577.3	+	8	1373	c.1330C>T	c.(1330-1332)Cca>Tca	p.P444S	ZNF292_ENST00000339907.4_Missense_Mutation_p.P439S	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	444					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		GCCCTTTGATCCAGAATTCTG	0.378													3	73					0	0	0.115264	0	0	T	87964677	C	T	87964677	3	4	3	1	0	0	0	0	1	0	0	0	17883	855	30	2	1360	2	ZNF292	6	87964677	Missense_Mutation	SNP	C	TCGA-CS-4942-01A-01D-1468-08	49078954	87964677	83150390	24	122											
TAB2	23118	broad.mit.edu	37	6	149699803	149699803	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CS-4942-01A-01D-1468-08	TCGA-CS-4942-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee5832e7-577c-4507-a4fd-a70646fabc24	f2b83686-8044-4e74-9554-8b4d3c40b2b2	g.chr6:149699803C>A	ENST00000367456.1	+	4	1329	c.752C>A	c.(751-753)tCa>tAa	p.S251*	TAB2_ENST00000536230.1_Nonsense_Mutation_p.S219*|TAB2_ENST00000286332.5_Nonsense_Mutation_p.S251*|TAB2_ENST00000392282.1_Nonsense_Mutation_p.S251*|TAB2_ENST00000538427.1_Nonsense_Mutation_p.S251*			Q9NYJ8	TAB2_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 2	251					activation of MAPK activity|heart development|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	K63-linked polyubiquitin binding|zinc ion binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	22						TATCAGCCTTCACAGCCTGGT	0.483													4	280					0.00909568	0.010329	0.150653	1	0	A	149699803	C	A	149699803	4	1	3	1	0	0	0	0	0	1	0	0	15553	838	29	5	758	5	TAB2	6	149699803	Nonsense_Mutation	SNP	C	TCGA-CS-4942-01A-01D-1468-08	61735126	149699803	21415264	25	123											
FRMD1	79981	broad.mit.edu	37	6	168479688	168479688	+	Silent	SNP	T	T	C			TCGA-CS-4942-01A-01D-1468-08	TCGA-CS-4942-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee5832e7-577c-4507-a4fd-a70646fabc24	f2b83686-8044-4e74-9554-8b4d3c40b2b2	g.chr6:168479688T>C	ENST00000283309.6	-	1	151	c.87A>G	c.(85-87)gaA>gaG	p.E29E		NM_024919.3	NP_079195.3	Q8N878	FRMD1_HUMAN	FERM domain containing 1	29						cytoskeleton	binding			endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	19		Breast(66;1.07e-05)|Ovarian(120;0.0728)		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)		CAGGACTGGGTTCCATACATC	0.652													4	102					0	0	0.150653	0	0	C	168479688	T	C	168479688	2	2	3	1	0	0	0	0	0	0	0	1	6084	1722	60	3		3	FRMD1	6	168479688	Silent	SNP	T	TCGA-CS-4942-01A-01D-1468-08	18779885	168479688	2635379	26	124											
PDE1C	5137	broad.mit.edu	37	7	31877484	31877484	+	Splice_Site	SNP	G	G	A			TCGA-CS-4942-01A-01D-1468-08	TCGA-CS-4942-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee5832e7-577c-4507-a4fd-a70646fabc24	f2b83686-8044-4e74-9554-8b4d3c40b2b2	g.chr7:31877484G>A	ENST00000396184.3	-	11	1286	c.1082C>T	c.(1081-1083)gCc>gTc	p.A361V	PDE1C_ENST00000396193.1_Splice_Site_p.A421V|PDE1C_ENST00000396191.1_Splice_Site_p.A361V|PDE1C_ENST00000321453.7_Splice_Site_p.A361V|PDE1C_ENST00000396182.2_Splice_Site_p.A361V	NM_005020.2	NP_005011.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	361	Catalytic (By similarity).				activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			GCACACTTACGCTTCTGGCTG	0.428													86	248					0	0	0.870114	0	0	A	31877484	G	A	31877484	5	1	3	1	0	0	0	0	0	0	1	0	11682	1101	38	1	854	1	PDE1C	7	31877484	Splice_Site	SNP	G	TCGA-CS-4942-01A-01D-1468-08		31877484	127261179	27	125											
MYL10	93408	broad.mit.edu	37	7	101256959	101256959	+	Missense_Mutation	SNP	G	G	T	rs141873317	byFrequency	TCGA-CS-4942-01A-01D-1468-08	TCGA-CS-4942-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee5832e7-577c-4507-a4fd-a70646fabc24	f2b83686-8044-4e74-9554-8b4d3c40b2b2	g.chr7:101256959G>T	ENST00000223167.4	-	7	742	c.565C>A	c.(565-567)Cgc>Agc	p.R189S		NM_138403.4	NP_612412.2	Q9BUA6	MYL10_HUMAN	myosin, light chain 10, regulatory	189	EF-hand 2.					mitochondrion	calcium ion binding			breast(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	12						TCACTGAAGCGGTCTGCCTGG	0.552													4	118					0.00024832	0.000297097	0.150653	1	0	T	101256959	G	T	101256959	3	4	3	1	0	0	0	0	1	0	0	0	10092	1116	39	5	123	5	MYL10	7	101256959	Missense_Mutation	SNP	G	TCGA-CS-4942-01A-01D-1468-08	69379475	101256959	57881704	28	126											
BMP1	649	broad.mit.edu	37	8	22049614	22049614	+	Missense_Mutation	SNP	A	A	G			TCGA-CS-4942-01A-01D-1468-08	TCGA-CS-4942-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee5832e7-577c-4507-a4fd-a70646fabc24	f2b83686-8044-4e74-9554-8b4d3c40b2b2	g.chr8:22049614A>G	ENST00000306385.5	+	9	1800	c.1130A>G	c.(1129-1131)tAc>tGc	p.Y377C	BMP1_ENST00000397816.3_Missense_Mutation_p.Y377C|BMP1_ENST00000354870.5_3'UTR|BMP1_ENST00000306349.8_Missense_Mutation_p.Y377C|BMP1_ENST00000397814.3_Missense_Mutation_p.Y377C	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN	bone morphogenetic protein 1	377	CUB 1.				cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis	extracellular space	calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		CTGTGCTGGTACGACTATGTG	0.607													3	121					0	0	0.150653	0	0	G	22049614	A	G	22049614	3	3	3	1	0	0	0	0	1	0	0	0	1455	391	14	3	1164	3	BMP1	8	22049614	Missense_Mutation	SNP	A	TCGA-CS-4942-01A-01D-1468-08		22049614	124314408	29	127											
ZNF16	7564	broad.mit.edu	37	8	146156188	146156191	+	Frame_Shift_Del	DEL	CAAG	CAAG	-			TCGA-CS-4942-01A-01D-1468-08	TCGA-CS-4942-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee5832e7-577c-4507-a4fd-a70646fabc24	f2b83686-8044-4e74-9554-8b4d3c40b2b2	g.chr8:146156188_146156191delCAAG	ENST00000276816.4	-	4	2168_2171	c.1982_1985delCTTG	c.(1981-1986)gcttgtfs	p.AC661fs	ZNF16_ENST00000394909.2_Frame_Shift_Del_p.AC661fs	NM_001029976.2	NP_001025147.2	P17020	ZNF16_HUMAN	zinc finger protein 16	661					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|lung(9)|ovary(5)|prostate(1)|skin(1)|urinary_tract(1)	29	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.136)	Epithelial(56;3.45e-38)|all cancers(56;3.04e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.02)|KIRC - Kidney renal clear cell carcinoma(644;0.0486)		GGCTTTCCCACAAGCAGCACAGTC	0.525													13	227	---	---	---	---						-	146156191	CAAG	-	146156188	7	5	3	1	0	1	0	1	0	0	0	0	17796	478	17	0	67	0	ZNF16	8	146156188	Frame_Shift_Del	DEL	CAAG	TCGA-CS-4942-01A-01D-1468-08	124106574	146156188	207834	30	128											
GRIN3A	116443	broad.mit.edu	37	9	104499941	104499941	+	Silent	SNP	C	C	T			TCGA-CS-4942-01A-01D-1468-08	TCGA-CS-4942-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee5832e7-577c-4507-a4fd-a70646fabc24	f2b83686-8044-4e74-9554-8b4d3c40b2b2	g.chr9:104499941C>T	ENST00000361820.3	-	1	921	c.321G>A	c.(319-321)ccG>ccA	p.P107P		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	107					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	GGGAGCCCGGCGGCCCCCGGC	0.751													8	6					0	0	0.335167	0	0	T	104499941	C	T	104499941	2	4	3	1	0	0	0	0	0	0	0	1	6824	755	27	1		1	GRIN3A	9	104499941	Silent	SNP	C	TCGA-CS-4942-01A-01D-1468-08		104499941	36713490	31	129											
SYNPO2L	79933	broad.mit.edu	37	10	75406654	75406654	+	Missense_Mutation	SNP	A	A	G			TCGA-CS-4942-01A-01D-1468-08	TCGA-CS-4942-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee5832e7-577c-4507-a4fd-a70646fabc24	f2b83686-8044-4e74-9554-8b4d3c40b2b2	g.chr10:75406654A>G	ENST00000394810.2	-	4	2905	c.2756T>C	c.(2755-2757)aTc>aCc	p.I919T	SYNPO2L_ENST00000372873.4_Missense_Mutation_p.I695T	NM_001114133.1	NP_001107605.1	Q9H987	SYP2L_HUMAN	synaptopodin 2-like	919	Pro-rich.					cytoplasm|cytoskeleton	actin binding			breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Prostate(51;0.0112)					TGTTCTCCAGATGGGCTCATC	0.652													30	40					0	0	0.796494	0	0	G	75406654	A	G	75406654	3	3	3	1	0	0	0	0	1	0	0	0	15515	333	12	3	181	3	SYNPO2L	10	75406654	Missense_Mutation	SNP	A	TCGA-CS-4942-01A-01D-1468-08		75406654	60128093	32	130											
LRIT1	26103	broad.mit.edu	37	10	86001161	86001161	+	Missense_Mutation	SNP	G	G	A			TCGA-CS-4942-01A-01D-1468-08	TCGA-CS-4942-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee5832e7-577c-4507-a4fd-a70646fabc24	f2b83686-8044-4e74-9554-8b4d3c40b2b2	g.chr10:86001161G>A	ENST00000372105.3	-	1	56	c.35C>T	c.(34-36)gCc>gTc	p.A12V		NM_015613.2	NP_056428.1	Q9P2V4	LRIT1_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 1	12						integral to endoplasmic reticulum membrane				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|skin(1)	23						CCACGCAAGGGCCAAGAGCCA	0.677													6	19					0	0	0.27861	0	0	A	86001161	G	A	86001161	3	1	3	1	0	0	0	0	1	0	0	0	8992	1203	42	2	1852	2	LRIT1	10	86001161	Missense_Mutation	SNP	G	TCGA-CS-4942-01A-01D-1468-08	10594507	86001161	49533586	33	131											
F2	2147	broad.mit.edu	37	11	46760818	46760818	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-4942-01A-01D-1468-08	TCGA-CS-4942-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee5832e7-577c-4507-a4fd-a70646fabc24	f2b83686-8044-4e74-9554-8b4d3c40b2b2	g.chr11:46760818C>T	ENST00000311907.5	+	14	1785	c.1729C>T	c.(1729-1731)Ccc>Tcc	p.P577S	F2_ENST00000530231.1_Missense_Mutation_p.P538S	NM_000506.3	NP_000497.1	P00734	THRB_HUMAN	coagulation factor II (thrombin)	577	Peptidase S1.				activation of caspase activity|acute-phase response|blood coagulation, intrinsic pathway|cell surface receptor linked signaling pathway|cytosolic calcium ion homeostasis|fibrinolysis|leukocyte migration|negative regulation of astrocyte differentiation|negative regulation of fibrinolysis|negative regulation of platelet activation|negative regulation of proteolysis|peptidyl-glutamic acid carboxylation|platelet activation|positive regulation of collagen biosynthetic process|positive regulation of protein phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of release of sequestered calcium ion into cytosol|post-translational protein modification|proteolysis|STAT protein import into nucleus|tyrosine phosphorylation of STAT protein	cytosol|endoplasmic reticulum lumen|extracellular space|Golgi lumen|plasma membrane|soluble fraction	calcium ion binding|growth factor activity|serine-type endopeptidase activity|thrombospondin receptor activity			endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	27		all_lung(304;0.000414)|Lung NSC(402;0.0011)		BRCA - Breast invasive adenocarcinoma(625;0.146)	Antihemophilic Factor(DB00025)|Argatroban(DB00278)|Bivalirudin(DB00006)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)|Enoxaparin(DB01225)|Heparin(DB01109)|Lepirudin(DB00001)|Menadione(DB00170)|Proflavine(DB01123)|Simvastatin(DB00641)|Suramin(DB04786)|Warfarin(DB00682)|Ximelagatran(DB04898)	TCTTCAGAGCCCCTTTAACAA	0.478													51	95					0	0	0.870114	0	0	T	46760818	C	T	46760818	3	4	3	1	0	0	0	0	1	0	0	0	5370	623	22	2	1783	2	F2	11	46760818	Missense_Mutation	SNP	C	TCGA-CS-4942-01A-01D-1468-08		46760818	88245698	34	132											
WNT11	7481	broad.mit.edu	37	11	75902837	75902837	+	Missense_Mutation	SNP	G	G	A			TCGA-CS-4942-01A-01D-1468-08	TCGA-CS-4942-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee5832e7-577c-4507-a4fd-a70646fabc24	f2b83686-8044-4e74-9554-8b4d3c40b2b2	g.chr11:75902837G>A	ENST00000322563.3	-	4	785	c.661C>T	c.(661-663)Cgc>Tgc	p.R221C	RP11-619A14.2_ENST00000527314.1_RNA	NM_004626.2	NP_004617.2	O96014	WNT11_HUMAN	wingless-type MMTV integration site family, member 11	221					adrenal gland development|anterior/posterior pattern formation|artery morphogenesis|axis specification|bone mineralization|cellular response to retinoic acid|cloacal septation|embryonic skeletal system development|endoderm development|lung-associated mesenchyme development|mesonephric duct development|negative regulation of apoptosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cartilage development|negative regulation of cell growth|negative regulation of cell migration|negative regulation of transcription, DNA-dependent|neuroendocrine cell differentiation|neuron differentiation|osteoblast differentiation|outflow tract morphogenesis|palate development|positive regulation of cell migration|positive regulation of protein kinase C signaling cascade|positive regulation of stress fiber assembly|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor-beta2 production|protein localization at cell surface|protein phosphorylation|tight junction assembly|ureteric bud morphogenesis|ventricular septum morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway	cytoplasm|extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|protein kinase activator activity|Ras GTPase activator activity|transcription regulatory region DNA binding	p.R221C(3)		breast(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	20						CAGCAGGTGCGGATGGAGCAG	0.637													4	89					0	0	0.150653	0	0	A	75902837	G	A	75902837	3	1	3	1	0	0	0	0	1	0	0	0	17444	1116	39	1	411	1	WNT11	11	75902837	Missense_Mutation	SNP	G	TCGA-CS-4942-01A-01D-1468-08	29142019	75902837	59103679	35	133											
DGKH	160851	broad.mit.edu	37	13	42763202	42763202	+	Silent	SNP	C	C	T			TCGA-CS-4942-01A-01D-1468-08	TCGA-CS-4942-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee5832e7-577c-4507-a4fd-a70646fabc24	f2b83686-8044-4e74-9554-8b4d3c40b2b2	g.chr13:42763202C>T	ENST00000261491.5	+	15	1690	c.1669C>T	c.(1669-1671)Ctg>Ttg	p.L557L	DGKH_ENST00000498255.2_3'UTR|DGKH_ENST00000540693.1_Silent_p.L557L|DGKH_ENST00000337343.4_Silent_p.L557L|DGKH_ENST00000538674.1_Silent_p.L312L|DGKH_ENST00000379274.2_Silent_p.L421L|DGKH_ENST00000536612.1_Silent_p.L421L	NM_152910.4	NP_690874.2	Q86XP1	DGKH_HUMAN	diacylglycerol kinase, eta						activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation|protein oligomerization	endosome|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			breast(2)|endometrium(3)|kidney(5)|large_intestine(11)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43		Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109)		GCTCGAACAACTGCTGCAGGC	0.463													6	112					0	0	0.27861	0	0	T	42763202	C	T	42763202	2	4	3	1	0	0	0	0	0	0	0	1	4498	564	20	2		2	DGKH	13	42763202	Silent	SNP	C	TCGA-CS-4942-01A-01D-1468-08		42763202	72406676	36	134											
C16orf71	146562	broad.mit.edu	37	16	4786629	4786629	+	Missense_Mutation	SNP	C	C	G			TCGA-CS-4942-01A-01D-1468-08	TCGA-CS-4942-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee5832e7-577c-4507-a4fd-a70646fabc24	f2b83686-8044-4e74-9554-8b4d3c40b2b2	g.chr16:4786629C>G	ENST00000299320.5	+	2	592	c.114C>G	c.(112-114)gaC>gaG	p.D38E	RP11-127I20.7_ENST00000588099.1_RNA|C16orf71_ENST00000590191.1_Missense_Mutation_p.D38E	NM_139170.2	NP_631909.2	Q8IYS4	CP071_HUMAN	chromosome 16 open reading frame 71	38										breast(1)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1)	11						CGTCTCTGGACTCAGACTCCC	0.592													6	138					0	0	0.217242	0	0	G	4786629	C	G	4786629	3	3	3	1	0	0	0	0	1	0	0	0	1837	564	20	4	116	4	C16orf71	16	4786629	Missense_Mutation	SNP	C	TCGA-CS-4942-01A-01D-1468-08		4786629	85568124	37	135											
RABEP2	79874	broad.mit.edu	37	16	28922261	28922261	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-4942-01A-01D-1468-08	TCGA-CS-4942-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee5832e7-577c-4507-a4fd-a70646fabc24	f2b83686-8044-4e74-9554-8b4d3c40b2b2	g.chr16:28922261C>T	ENST00000358201.4	-	7	1625	c.1037G>A	c.(1036-1038)cGg>cAg	p.R346Q	RABEP2_ENST00000357573.6_Missense_Mutation_p.R314Q|RABEP2_ENST00000544477.1_Missense_Mutation_p.R275Q	NM_024816.2	NP_079092.2	Q9H5N1	RABE2_HUMAN	rabaptin, RAB GTPase binding effector protein 2	346					endocytosis|protein transport	early endosome	growth factor activity|GTPase activator activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	16						TTGCAGGGTCCGCAGCAGCTG	0.677													4	51					0	0	0.184627	0	0	T	28922261	C	T	28922261	3	4	3	1	0	0	0	0	1	0	0	0	13014	652	23	1	700	1	RABEP2	16	28922261	Missense_Mutation	SNP	C	TCGA-CS-4942-01A-01D-1468-08	24135632	28922261	61432492	38	136											
TP53	7157	broad.mit.edu	37	17	7577114	7577114	+	Missense_Mutation	SNP	C	C	A			TCGA-CS-4942-01A-01D-1468-08	TCGA-CS-4942-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee5832e7-577c-4507-a4fd-a70646fabc24	f2b83686-8044-4e74-9554-8b4d3c40b2b2	g.chr17:7577114C>A	ENST00000420246.2	-	8	956	c.824G>T	c.(823-825)tGt>tTt	p.C275F	TP53_ENST00000359597.4_Missense_Mutation_p.C275F|TP53_ENST00000445888.2_Missense_Mutation_p.C275F|TP53_ENST00000269305.4_Missense_Mutation_p.C275F|TP53_ENST00000455263.2_Missense_Mutation_p.C275F|TP53_ENST00000413465.2_Intron	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	275	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.C275Y(53)|p.C275F(37)|p.0?(8)|p.C275fs*70(3)|p.?(2)|p.C275S(2)|p.C275fs*20(1)|p.L265_K305del41(1)|p.R273_C275delRVC(1)|p.F270_D281del12(1)|p.V274_P278del(1)|p.A276fs*29(1)|p.S269fs*21(1)|p.C275fs*67(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(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)		AGGACAGGCACAAACACGCAC	0.552		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)			52	11					1.17475e-09	1.43106e-09	0.870114	1	0	A	7577114	C	A	7577114	3	1	3	1	0	0	0	0	1	0	0	0	16442	478	17	5	462	5	TP53	17	7577114	Missense_Mutation	SNP	C	TCGA-CS-4942-01A-01D-1468-08		7577114	73618096	39	137											
YES1	7525	broad.mit.edu	37	18	756710	756710	+	Missense_Mutation	SNP	A	A	G			TCGA-CS-4942-01A-01D-1468-08	TCGA-CS-4942-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee5832e7-577c-4507-a4fd-a70646fabc24	f2b83686-8044-4e74-9554-8b4d3c40b2b2	g.chr18:756710A>G	ENST00000584307.1	-	2	288	c.118T>C	c.(118-120)Tca>Cca	p.S40P	YES1_ENST00000577611.1_5'UTR|YES1_ENST00000314574.4_Missense_Mutation_p.S40P|YES1_ENST00000577961.1_Missense_Mutation_p.S45P			P07947	YES_HUMAN	v-yes-1 Yamaguchi sarcoma viral oncogene homolog 1	40					blood coagulation|leukocyte migration|regulation of vascular permeability|T cell costimulation	cytosol|plasma membrane	ATP binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(1)	17					Dasatinib(DB01254)	GGACATGGTGACACTGTAGTG	0.453													108	174					0	0	0.870114	0	0	G	756710	A	G	756710	3	3	3	1	0	0	0	0	1	0	0	0	17534	275	10	3	1557	3	YES1	18	756710	Missense_Mutation	SNP	A	TCGA-CS-4942-01A-01D-1468-08		756710	77320538	40	138											
WDR18	57418	broad.mit.edu	37	19	991974	991974	+	Silent	SNP	C	C	T			TCGA-CS-4942-01A-01D-1468-08	TCGA-CS-4942-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee5832e7-577c-4507-a4fd-a70646fabc24	f2b83686-8044-4e74-9554-8b4d3c40b2b2	g.chr19:991974C>T	ENST00000251289.5	+	8	974	c.951C>T	c.(949-951)gcC>gcT	p.A317A	WDR18_ENST00000587001.2_Silent_p.A317A	NM_024100.3	NP_077005.2	Q9BV38	WDR18_HUMAN	WD repeat domain 18	317										endometrium(1)|kidney(2)|lung(2)|skin(2)	7		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)		CCAATGCCGCCATCCTGCTGG	0.711													3	9					0	0	0.115264	0	0	T	991974	C	T	991974	2	4	3	1	0	0	0	0	0	0	0	1	17338	581	21	2		2	WDR18	19	991974	Silent	SNP	C	TCGA-CS-4942-01A-01D-1468-08		991974	58137009	41	139											
ATP4A	495	broad.mit.edu	37	19	36054147	36054147	+	Silent	SNP	C	C	T			TCGA-CS-4942-01A-01D-1468-08	TCGA-CS-4942-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee5832e7-577c-4507-a4fd-a70646fabc24	f2b83686-8044-4e74-9554-8b4d3c40b2b2	g.chr19:36054147C>T	ENST00000262623.3	-	3	208	c.180G>A	c.(178-180)gcG>gcA	p.A60A		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	60					ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding	p.A60A(1)		breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)	GTTCCAGCTCCGCCACTGACA	0.642													4	209					0	0	0.150653	0	0	T	36054147	C	T	36054147	2	4	3	1	0	0	0	0	0	0	0	1	1144	639	23	1		1	ATP4A	19	36054147	Silent	SNP	C	TCGA-CS-4942-01A-01D-1468-08	35062173	36054147	23074836	42	140											
EIF3L	51386	broad.mit.edu	37	22	38271891	38271891	+	Missense_Mutation	SNP	A	A	G			TCGA-CS-4942-01A-01D-1468-08	TCGA-CS-4942-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee5832e7-577c-4507-a4fd-a70646fabc24	f2b83686-8044-4e74-9554-8b4d3c40b2b2	g.chr22:38271891A>G	ENST00000412331.2	+	10	1532	c.950A>G	c.(949-951)tAt>tGt	p.Y317C	EIF3L_ENST00000406934.1_Missense_Mutation_p.Y219C|EIF3L_ENST00000381683.6_Missense_Mutation_p.Y269C	NM_016091.3	NP_057175.1	Q9Y262	EIF3L_HUMAN	eukaryotic translation initiation factor 3, subunit L	317						eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			kidney(2)|large_intestine(3)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						ACCACATACTATTATGTTGGG	0.468													5	348					0	0	0.217242	0	0	G	38271891	A	G	38271891	3	3	3	1	0	0	0	0	1	0	0	0	5050	449	16	3	988	3	EIF3L	22	38271891	Missense_Mutation	SNP	A	TCGA-CS-4942-01A-01D-1468-08		38271891	13032675	43	141											
KAL1	3730	broad.mit.edu	37	X	8555923	8555923	+	Missense_Mutation	SNP	T	T	C			TCGA-CS-4942-01A-01D-1468-08	TCGA-CS-4942-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee5832e7-577c-4507-a4fd-a70646fabc24	f2b83686-8044-4e74-9554-8b4d3c40b2b2	g.chrX:8555923T>C	ENST00000262648.3	-	5	787	c.638A>G	c.(637-639)gAg>gGg	p.E213G		NM_000216.2	NP_000207.2	P23352	KALM_HUMAN	Kallmann syndrome 1 sequence	213	Fibronectin type-III 1.				axon guidance|cell adhesion|cellular component movement	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|serine-type endopeptidase inhibitor activity			breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(1)	32						GATCACAGGCTCAATAGAAAT	0.468													19	22					0	0	0.575678	0	0	C	8555923	T	C	8555923	3	2	3	1	0	0	0	0	1	0	0	0	8018	1551	54	3	1444	3	KAL1	23	8555923	Missense_Mutation	SNP	T	TCGA-CS-4942-01A-01D-1468-08		8555923	146714637	44	142											
BCOR	54880	broad.mit.edu	37	X	39923699	39923699	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-4942-01A-01D-1468-08	TCGA-CS-4942-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee5832e7-577c-4507-a4fd-a70646fabc24	f2b83686-8044-4e74-9554-8b4d3c40b2b2	g.chrX:39923699C>T	ENST00000342274.4	-	7	3754	c.3392G>A	c.(3391-3393)cGg>cAg	p.R1131Q	BCOR_ENST00000378463.1_Missense_Mutation_p.R8Q|BCOR_ENST00000378444.4_Missense_Mutation_p.R1131Q|BCOR_ENST00000378455.4_Missense_Mutation_p.R1113Q|BCOR_ENST00000397354.3_Missense_Mutation_p.R1131Q	NM_001123383.1	NP_001116855.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	1131					heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding	p.R1131L(1)		breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						CCTGTCCACCCGGAGGGTGGG	0.607			"F, N, S, T"	RARA	"retinoblastoma, AML, APL(translocation)"		oculo-facio-cardio-dental genetic						29	60					0	0	0.729181	0	0	T	39923699	C	T	39923699	3	4	3	1	0	0	0	0	1	0	0	0	1384	652	23	1	1911	1	BCOR	23	39923699	Missense_Mutation	SNP	C	TCGA-CS-4942-01A-01D-1468-08	31367776	39923699	115346861	45	143											
ZNF41	7592	broad.mit.edu	37	X	47307253	47307253	+	Missense_Mutation	SNP	T	T	G			TCGA-CS-4942-01A-01D-1468-08	TCGA-CS-4942-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee5832e7-577c-4507-a4fd-a70646fabc24	f2b83686-8044-4e74-9554-8b4d3c40b2b2	g.chrX:47307253T>G	ENST00000377065.4	-	5	2555	c.1916A>C	c.(1915-1917)gAc>gCc	p.D639A	ZNF41_ENST00000313116.7_Missense_Mutation_p.D639A|ZNF41_ENST00000397050.2_Missense_Mutation_p.D649A	NM_153380.2	NP_700359.1	P51814	ZNF41_HUMAN	zinc finger protein 41	681						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|upper_aerodigestive_tract(2)	24		all_lung(315;0.000129)				TTTCCCACAGTCGCTGCATTC	0.468													3	130					0	0	0.115264	0	0	G	47307253	T	G	47307253	3	3	3	1	0	0	0	0	1	0	0	0	17946	1667	58	5	427	5	ZNF41	23	47307253	Missense_Mutation	SNP	T	TCGA-CS-4942-01A-01D-1468-08	7383554	47307253	107963307	46	144											
USP51	158880	broad.mit.edu	37	X	55514658	55514658	+	Missense_Mutation	SNP	A	A	G			TCGA-CS-4942-01A-01D-1468-08	TCGA-CS-4942-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee5832e7-577c-4507-a4fd-a70646fabc24	f2b83686-8044-4e74-9554-8b4d3c40b2b2	g.chrX:55514658A>G	ENST00000500968.3	-	2	797	c.715T>C	c.(715-717)Tgt>Cgt	p.C239R	USP51_ENST00000586165.1_Intron	NM_201286.3	NP_958443.1	Q70EK9	UBP51_HUMAN	ubiquitin specific peptidase 51	239					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30						TGGGTACTACATACGTGACAG	0.453													42	70					0	0	0.840704	0	0	G	55514658	A	G	55514658	3	3	3	1	0	0	0	0	1	0	0	0	17143	217	8	3	1424	3	USP51	23	55514658	Missense_Mutation	SNP	A	TCGA-CS-4942-01A-01D-1468-08	8207405	55514658	99755902	47	145											
ATRX	546	broad.mit.edu	37	X	76854942	76854942	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CS-4942-01A-01D-1468-08	TCGA-CS-4942-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee5832e7-577c-4507-a4fd-a70646fabc24	f2b83686-8044-4e74-9554-8b4d3c40b2b2	g.chrX:76854942delC	ENST00000373344.5	-	25	6108	c.5894delG	c.(5893-5895)ggtfs	p.G1966fs	ATRX_ENST00000395603.3_Frame_Shift_Del_p.G1928fs|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1966					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)	TCCTTCACCACCTCCCCGAGA	0.388			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						308	498	---	---	---	---						-	76854942	C	-	76854942	7	5	3	1	0	1	0	1	0	0	0	0	1206	507	18	0	1628	0	ATRX	23	76854942	Frame_Shift_Del	DEL	C	TCGA-CS-4942-01A-01D-1468-08	21340284	76854942	78415618	48	146											
FRMD7	90167	broad.mit.edu	37	X	131216497	131216497	+	Missense_Mutation	SNP	A	A	G			TCGA-CS-4942-01A-01D-1468-08	TCGA-CS-4942-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee5832e7-577c-4507-a4fd-a70646fabc24	f2b83686-8044-4e74-9554-8b4d3c40b2b2	g.chrX:131216497A>G	ENST00000298542.4	-	9	974	c.799T>C	c.(799-801)Ttc>Ctc	p.F267L	FRMD7_ENST00000370879.1_Missense_Mutation_p.F147L|FRMD7_ENST00000464296.1_Missense_Mutation_p.F252L	NM_194277.2	NP_919253.1	Q6ZUT3	FRMD7_HUMAN	FERM domain containing 7	267	FERM.				regulation of neuron projection development	cytoskeleton|growth cone|neuronal cell body	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Acute lymphoblastic leukemia(192;0.000127)					GTCTTCCAGAAAGCCTTGCAG	0.463													140	259					0	0	0.870114	0	0	G	131216497	A	G	131216497	3	3	3	1	0	0	0	0	1	0	0	0	6090	14	1	3	1361	3	FRMD7	23	131216497	Missense_Mutation	SNP	A	TCGA-CS-4942-01A-01D-1468-08	54361555	131216497	24054063	49	147											
GBP1	2633	broad.mit.edu	37	1	89520410	89520410	+	Silent	SNP	G	G	C			TCGA-CS-4943-01A-01D-1468-08	TCGA-CS-4943-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14627ffd-642c-42b5-9d95-ad436c9b1d35	0d4a92bf-0624-4dfa-9d95-8f91a693ea3f	g.chr1:89520410G>C	ENST00000370473.4	-	10	1839	c.1620C>G	c.(1618-1620)gtC>gtG	p.V540V	GBP1_ENST00000484970.1_5'UTR	NM_002053.2	NP_002044.2	P32455	GBP1_HUMAN	guanylate binding protein 1, interferon-inducible	540					interferon-gamma-mediated signaling pathway	plasma membrane	GTP binding|GTPase activity			endometrium(7)|kidney(4)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	30		Lung NSC(277;0.123)		all cancers(265;0.0156)|Epithelial(280;0.0291)		TCAGCAACTGGACCCTGTCGT	0.433													86	281					0	0	0.870114	0	0	C	89520410	G	C	89520410	2	2	4	1	0	0	0	0	0	0	0	1	6313	1161	41	5		5	GBP1	1	89520410	Silent	SNP	G	TCGA-CS-4943-01A-01D-1468-08		89520410	159730211	1	148											
RSBN1	54665	broad.mit.edu	37	1	114310931	114310931	+	Missense_Mutation	SNP	C	C	G			TCGA-CS-4943-01A-01D-1468-08	TCGA-CS-4943-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14627ffd-642c-42b5-9d95-ad436c9b1d35	0d4a92bf-0624-4dfa-9d95-8f91a693ea3f	g.chr1:114310931C>G	ENST00000261441.5	-	5	1802	c.1739G>C	c.(1738-1740)aGa>aCa	p.R580T		NM_018364.3	NP_060834.2	Q5VWQ0	RSBN1_HUMAN	round spermatid basic protein 1	580						nucleus				breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(3)|urinary_tract(2)	29	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		AGCATGAGCTCTAGTCCTATC	0.433													45	67					0	0	0.859065	0	0	G	114310931	C	G	114310931	3	3	4	1	0	0	0	0	1	0	0	0	13748	913	32	4	681	4	RSBN1	1	114310931	Missense_Mutation	SNP	C	TCGA-CS-4943-01A-01D-1468-08	24790521	114310931	134939690	2	149											
ROCK2	9475	broad.mit.edu	37	2	11355517	11355517	+	Missense_Mutation	SNP	A	A	T			TCGA-CS-4943-01A-01D-1468-08	TCGA-CS-4943-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14627ffd-642c-42b5-9d95-ad436c9b1d35	0d4a92bf-0624-4dfa-9d95-8f91a693ea3f	g.chr2:11355517A>T	ENST00000315872.6	-	15	2067	c.1619T>A	c.(1618-1620)cTt>cAt	p.L540H	ROCK2_ENST00000401753.1_Missense_Mutation_p.L297H	NM_004850.3	NP_004841.2	O75116	ROCK2_HUMAN	Rho-associated, coiled-coil containing protein kinase 2	540	Interaction with PPP1R12A.				axon guidance|cytokinesis|intracellular signal transduction	cytosol|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|structural molecule activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2)	43	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)		CAAATCTTCAAGTTGATCTTT	0.308													33	40					0	0	0.740014	0	0	T	11355517	A	T	11355517	3	4	4	1	0	0	0	0	1	0	0	0	13570	72	3	5	2623	5	ROCK2	2	11355517	Missense_Mutation	SNP	A	TCGA-CS-4943-01A-01D-1468-08		11355517	231843856	3	150											
LIMS2	55679	broad.mit.edu	37	2	128399630	128399630	+	Silent	SNP	G	G	A			TCGA-CS-4943-01A-01D-1468-08	TCGA-CS-4943-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14627ffd-642c-42b5-9d95-ad436c9b1d35	0d4a92bf-0624-4dfa-9d95-8f91a693ea3f	g.chr2:128399630G>A	ENST00000409455.1	-	6	1274	c.639C>T	c.(637-639)caC>caT	p.H213H	LIMS2_ENST00000324938.5_Silent_p.H242H|LIMS2_ENST00000545738.2_Silent_p.H240H|LIMS2_ENST00000409808.2_Silent_p.H213H|LIMS2_ENST00000410038.1_Silent_p.H66H|LIMS2_ENST00000409754.1_Silent_p.H66H|LIMS2_ENST00000355119.4_Silent_p.H218H|LIMS2_ENST00000409286.1_Silent_p.H66H|LIMS2_ENST00000409254.1_Silent_p.H66H|LIMS2_ENST00000410011.1_Silent_p.H213H			Q7Z4I7	LIMS2_HUMAN	LIM and senescent cell antigen-like domains 2	218	LIM zinc-binding 4.				cell junction assembly	cytosol|focal adhesion|nucleus	zinc ion binding	p.H242H(1)		endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0681)		TCACCTCCACGTGCCACTGCT	0.677													15	26					0	0	0.539581	0	0	A	128399630	G	A	128399630	2	1	4	1	0	0	0	0	0	0	0	1	8844	1136	40	1		1	LIMS2	2	128399630	Silent	SNP	G	TCGA-CS-4943-01A-01D-1468-08	117044113	128399630	114799743	4	151											
CALCRL	10203	broad.mit.edu	37	2	188225389	188225389	+	Silent	SNP	T	T	G			TCGA-CS-4943-01A-01D-1468-08	TCGA-CS-4943-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14627ffd-642c-42b5-9d95-ad436c9b1d35	0d4a92bf-0624-4dfa-9d95-8f91a693ea3f	g.chr2:188225389T>G	ENST00000409998.1	-	11	1498	c.717A>C	c.(715-717)acA>acC	p.T239T	AC007319.1_ENST00000453517.1_RNA|CALCRL_ENST00000392370.3_Silent_p.T239T|CALCRL_ENST00000410068.1_Silent_p.T239T|AC007319.1_ENST00000412276.1_RNA			Q16602	CALRL_HUMAN	calcitonin receptor-like	239						integral to plasma membrane				endometrium(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(96;0.227)			CCACAATGAGTGTGTGTAGGT	0.403													36	42					0	0	0.796494	0	0	G	188225389	T	G	188225389	2	3	4	1	0	0	0	0	0	0	0	1	2598	1683	59	5		5	CALCRL	2	188225389	Silent	SNP	T	TCGA-CS-4943-01A-01D-1468-08	59825759	188225389	54973984	5	152											
ALS2	57679	broad.mit.edu	37	2	202609063	202609063	+	Silent	SNP	G	G	A			TCGA-CS-4943-01A-01D-1468-08	TCGA-CS-4943-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14627ffd-642c-42b5-9d95-ad436c9b1d35	0d4a92bf-0624-4dfa-9d95-8f91a693ea3f	g.chr2:202609063G>A	ENST00000264276.6	-	10	2460	c.2088C>T	c.(2086-2088)caC>caT	p.H696H	ALS2_ENST00000457679.2_Silent_p.H8H	NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	696	DH.				cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size	centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle	protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						TAGCTAACTCGTGGAGACTGG	0.398													31	35					0	0	0.740014	0	0	A	202609063	G	A	202609063	2	1	4	1	0	0	0	0	0	0	0	1	546	1136	40	1		1	ALS2	2	202609063	Silent	SNP	G	TCGA-CS-4943-01A-01D-1468-08	14383674	202609063	40590310	6	153											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-CS-4943-01A-01D-1468-08	TCGA-CS-4943-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14627ffd-642c-42b5-9d95-ad436c9b1d35	0d4a92bf-0624-4dfa-9d95-8f91a693ea3f	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								41	48					0	0	0.840704	0	0	T	209113112	C	T	209113112	3	4	4	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-CS-4943-01A-01D-1468-08	6504049	209113112	34086261	7	154											
KCNH8	131096	broad.mit.edu	37	3	19575087	19575087	+	Silent	SNP	C	C	T	rs151258565	by1000genomes	TCGA-CS-4943-01A-01D-1468-08	TCGA-CS-4943-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14627ffd-642c-42b5-9d95-ad436c9b1d35	0d4a92bf-0624-4dfa-9d95-8f91a693ea3f	g.chr3:19575087C>T	ENST00000328405.2	+	16	3086	c.2820C>T	c.(2818-2820)ggC>ggT	p.G940G		NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	940						integral to membrane	two-component sensor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						TGCAAACAGGCGGGGCTGCTT	0.542													50	76					0	0	0.870114	0	0	T	19575087	C	T	19575087	2	4	4	1	0	0	0	0	0	0	0	1	8082	755	27	1		1	KCNH8	3	19575087	Silent	SNP	C	TCGA-CS-4943-01A-01D-1468-08		19575087	178447343	8	155											
MCM2	4171	broad.mit.edu	37	3	127337890	127337890	+	Silent	SNP	C	C	T			TCGA-CS-4943-01A-01D-1468-08	TCGA-CS-4943-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14627ffd-642c-42b5-9d95-ad436c9b1d35	0d4a92bf-0624-4dfa-9d95-8f91a693ea3f	g.chr3:127337890C>T	ENST00000265056.7	+	13	2278	c.2034C>T	c.(2032-2034)ttC>ttT	p.F678F	MCM2_ENST00000468414.1_3'UTR	NM_004526.2	NP_004517.2	P49736	MCM2_HUMAN	minichromosome maintenance complex component 2	678	MCM.				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|helicase activity|metal ion binding			ovary(3)|skin(2)|stomach(1)	6						TGGCCCGCTTCGTGGTGGGCA	0.632													5	24					0	0	0.217242	0	0	T	127337890	C	T	127337890	2	4	4	1	0	0	0	0	0	0	0	1	9436	883	31	1		1	MCM2	3	127337890	Silent	SNP	C	TCGA-CS-4943-01A-01D-1468-08	107762803	127337890	70684540	9	156											
CP	1356	broad.mit.edu	37	3	148930358	148930358	+	Missense_Mutation	SNP	A	A	G			TCGA-CS-4943-01A-01D-1468-08	TCGA-CS-4943-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14627ffd-642c-42b5-9d95-ad436c9b1d35	0d4a92bf-0624-4dfa-9d95-8f91a693ea3f	g.chr3:148930358A>G	ENST00000264613.6	-	2	536	c.274T>C	c.(274-276)Ttt>Ctt	p.F92L		NM_000096.3	NP_000087	P00450	CERU_HUMAN	ceruloplasmin (ferroxidase)	92	F5/8 type A 1.|Plastocyanin-like 1.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	extracellular space	chaperone binding|ferroxidase activity			breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		Drotrecogin alfa(DB00055)	GGGCCTAAAAACCCAAGCCAG	0.398													6	88					0	0	0.217242	0	0	G	148930358	A	G	148930358	3	3	4	1	0	0	0	0	1	0	0	0	3810	43	2	3	2995	3	CP	3	148930358	Missense_Mutation	SNP	A	TCGA-CS-4943-01A-01D-1468-08	21592468	148930358	49092072	10	157											
GFPT2	9945	broad.mit.edu	37	5	179740844	179740844	+	Missense_Mutation	SNP	A	A	T			TCGA-CS-4943-01A-01D-1468-08	TCGA-CS-4943-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14627ffd-642c-42b5-9d95-ad436c9b1d35	0d4a92bf-0624-4dfa-9d95-8f91a693ea3f	g.chr5:179740844A>T	ENST00000253778.8	-	14	1563	c.1394T>A	c.(1393-1395)aTc>aAc	p.I465N		NM_005110.2	NP_005101.1	O94808	GFPT2_HUMAN	glutamine-fructose-6-phosphate transaminase 2	465	SIS 1.				dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34	all_cancers(89;4.97e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	Medulloblastoma(196;0.0392)|all_neural(177;0.0529)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		L-Glutamine(DB00130)	CCCTGCGTTGATGTGGACGCC	0.701													6	10					0	0	0.335167	0	0	T	179740844	A	T	179740844	3	4	4	1	0	0	0	0	1	0	0	0	6388	333	12	4	678	4	GFPT2	5	179740844	Missense_Mutation	SNP	A	TCGA-CS-4943-01A-01D-1468-08		179740844	1174416	11	158											
ROS1	6098	broad.mit.edu	37	6	117609712	117609712	+	Silent	SNP	A	A	G			TCGA-CS-4943-01A-01D-1468-08	TCGA-CS-4943-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14627ffd-642c-42b5-9d95-ad436c9b1d35	0d4a92bf-0624-4dfa-9d95-8f91a693ea3f	g.chr6:117609712A>G	ENST00000368508.3	-	43	7185	c.6987T>C	c.(6985-6987)ccT>ccC	p.P2329P	ROS1_ENST00000368507.3_Silent_p.P2323P	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	2329					transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		TCAGGCCTTCAGGCTTGCCAG	0.438			T	"GOPC, SDC4, SLC34A2, EZR, LRIG3"	"glioblastoma, NSCLC"								43	69					0	0	0.853193	0	0	G	117609712	A	G	117609712	2	3	4	1	0	0	0	0	0	0	0	1	13583	175	7	3		3	ROS1	6	117609712	Silent	SNP	A	TCGA-CS-4943-01A-01D-1468-08		117609712	53505355	12	159											
NKAIN2	154215	broad.mit.edu	37	6	124979504	124979504	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-4943-01A-01D-1468-08	TCGA-CS-4943-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14627ffd-642c-42b5-9d95-ad436c9b1d35	0d4a92bf-0624-4dfa-9d95-8f91a693ea3f	g.chr6:124979504C>T	ENST00000368417.1	+	4	506	c.446C>T	c.(445-447)gCt>gTt	p.A149V	NKAIN2_ENST00000546092.1_Intron|NKAIN2_ENST00000545433.1_Missense_Mutation_p.A134V|NKAIN2_ENST00000368416.1_Missense_Mutation_p.A149V	NM_001040214.1	NP_001035304.1	Q5VXU1	NKAI2_HUMAN	Na+/K+ transporting ATPase interacting 2	149						integral to membrane|plasma membrane				cervix(1)|endometrium(1)|large_intestine(3)|lung(12)|skin(2)	19				GBM - Glioblastoma multiforme(226;0.104)		ATAGAAGTGGCTCATAGTTCC	0.542													38	50					0	0	0.819951	0	0	T	124979504	C	T	124979504	3	4	4	1	0	0	0	0	1	0	0	0	10483	797	28	2	460	2	NKAIN2	6	124979504	Missense_Mutation	SNP	C	TCGA-CS-4943-01A-01D-1468-08	7369792	124979504	46135563	13	160											
EIF3B	8662	broad.mit.edu	37	7	2404028	2404028	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-4943-01A-01D-1468-08	TCGA-CS-4943-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14627ffd-642c-42b5-9d95-ad436c9b1d35	0d4a92bf-0624-4dfa-9d95-8f91a693ea3f	g.chr7:2404028C>T	ENST00000360876.4	+	6	1077	c.1021C>T	c.(1021-1023)Cgt>Tgt	p.R341C	EIF3B_ENST00000397011.2_Missense_Mutation_p.R341C	NM_001037283.1	NP_001032360.1	P55884	EIF3B_HUMAN	eukaryotic translation initiation factor 3, subunit B	341	Sufficient for interaction with EIF3E.				regulation of translational initiation	cytosol|eukaryotic translation initiation factor 3 complex	nucleotide binding|protein complex scaffold|translation initiation factor activity			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	24		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;7.76e-14)		GACGTATGTGCGTTGGTCTCC	0.458													88	107					0	0	0.870114	0	0	T	2404028	C	T	2404028	3	4	4	1	0	0	0	0	1	0	0	0	5039	768	27	1	1043	1	EIF3B	7	2404028	Missense_Mutation	SNP	C	TCGA-CS-4943-01A-01D-1468-08		2404028	156734635	14	161											
PKD1L1	168507	broad.mit.edu	37	7	47876598	47876598	+	Missense_Mutation	SNP	G	G	A			TCGA-CS-4943-01A-01D-1468-08	TCGA-CS-4943-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14627ffd-642c-42b5-9d95-ad436c9b1d35	0d4a92bf-0624-4dfa-9d95-8f91a693ea3f	g.chr7:47876598G>A	ENST00000289672.2	-	37	5914	c.5864C>T	c.(5863-5865)cCg>cTg	p.P1955L		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	1955					cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						GGTGAGGCGCGGCGTGTGCAG	0.582													3	41					0	0	0.150653	0	0	A	47876598	G	A	47876598	3	1	4	1	0	0	0	0	1	0	0	0	12012	1116	39	1	2769	1	PKD1L1	7	47876598	Missense_Mutation	SNP	G	TCGA-CS-4943-01A-01D-1468-08	45472570	47876598	111262065	15	162											
CDKN2A	1029	broad.mit.edu	37	9	21974684	21974684	+	Missense_Mutation	SNP	G	G	C			TCGA-CS-4943-01A-01D-1468-08	TCGA-CS-4943-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14627ffd-642c-42b5-9d95-ad436c9b1d35	0d4a92bf-0624-4dfa-9d95-8f91a693ea3f	g.chr9:21974684G>C	ENST00000304494.5	-	1	413	c.143C>G	c.(142-144)cCg>cGg	p.P48R	CDKN2A_ENST00000498124.1_Missense_Mutation_p.P48R|CDKN2A_ENST00000530628.2_Intron|CDKN2A_ENST00000579755.1_Intron|CDKN2A_ENST00000361570.3_Intron|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000494262.1_Intron|CDKN2A_ENST00000446177.1_Missense_Mutation_p.P48R|CDKN2A_ENST00000498628.2_Intron|CDKN2A_ENST00000579122.1_Missense_Mutation_p.P48R	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	48			P -> L (in CMM2 and a head and neck tumor; somatic mutation).		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(25)|p.P48L(8)|p.P48R(1)|p.0(1)|p.V28_V51del(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CACCTGGATCGGCCTCCGACC	0.677		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			10	21					0	0	0.38729	0	0	C	21974684	G	C	21974684	3	2	4	1	0	0	0	0	1	0	0	0	3183	1116	39	5	540	5	CDKN2A	9	21974684	Missense_Mutation	SNP	G	TCGA-CS-4943-01A-01D-1468-08		21974684	119238747	16	163											
WNK2	65268	broad.mit.edu	37	9	96080327	96080327	+	Missense_Mutation	SNP	G	G	A			TCGA-CS-4943-01A-01D-1468-08	TCGA-CS-4943-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14627ffd-642c-42b5-9d95-ad436c9b1d35	0d4a92bf-0624-4dfa-9d95-8f91a693ea3f	g.chr9:96080327G>A	ENST00000427277.2	+	29	6646	c.5482G>A	c.(5482-5484)Gcc>Acc	p.A1828T	WNK2_ENST00000297954.4_3'UTR|WNK2_ENST00000356055.3_Intron|WNK2_ENST00000349097.3_Intron|WNK2_ENST00000395477.2_Intron|WNK2_ENST00000471076.1_Intron|WNK2_ENST00000395475.2_Intron			Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	118					intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						TGGTCCACGCGCCGTCTCCAC	0.582													7	104					0	0	0.38729	0	0	A	96080327	G	A	96080327	3	1	4	1	0	0	0	0	1	0	0	0	17438	1102	38	1		1	WNK2	9	96080327	Missense_Mutation	SNP	G	TCGA-CS-4943-01A-01D-1468-08	74105643	96080327	45133104	17	164											
XPA	7507	broad.mit.edu	37	9	100459509	100459509	+	Silent	SNP	G	G	A			TCGA-CS-4943-01A-01D-1468-08	TCGA-CS-4943-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14627ffd-642c-42b5-9d95-ad436c9b1d35	0d4a92bf-0624-4dfa-9d95-8f91a693ea3f	g.chr9:100459509G>A	ENST00000375128.4	-	1	130	c.66C>T	c.(64-66)gcC>gcT	p.A22A		NM_000380.3	NP_000371.1	P23025	XPA_HUMAN	xeroderma pigmentosum, complementation group A	22	Interaction with CEP164 and required for UV resistance.				nucleotide-excision repair, DNA damage removal	nucleoplasm	damaged DNA binding|metal ion binding|nucleotide binding|protein domain specific binding|protein homodimerization activity			breast(1)|endometrium(4)|large_intestine(1)|lung(4)|prostate(1)	11		Acute lymphoblastic leukemia(62;0.158)				CCCGCACCGAGGCAGGCAGCT	0.736			"Mis, N, F, S"			"skin basal cell, skin squamous cell, melanoma"		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				4	12					0	0	0.184627	0	0	A	100459509	G	A	100459509	2	1	4	1	0	0	0	0	0	0	0	1	17500	987	35	2		2	XPA	9	100459509	Silent	SNP	G	TCGA-CS-4943-01A-01D-1468-08	4379182	100459509	40753922	18	165											
NUP214	8021	broad.mit.edu	37	9	134073213	134073213	+	Silent	SNP	A	A	G			TCGA-CS-4943-01A-01D-1468-08	TCGA-CS-4943-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14627ffd-642c-42b5-9d95-ad436c9b1d35	0d4a92bf-0624-4dfa-9d95-8f91a693ea3f	g.chr9:134073213A>G	ENST00000359428.5	+	29	4476	c.4332A>G	c.(4330-4332)caA>caG	p.Q1444Q	NUP214_ENST00000465486.2_3'UTR|NUP214_ENST00000483497.2_Silent_p.Q270Q|NUP214_ENST00000411637.2_Silent_p.Q1434Q|NUP214_ENST00000451030.1_Silent_p.Q1445Q			P35658	NU214_HUMAN	nucleoporin 214kDa	1444	11 X 3 AA approximate repeats.|11 X 5 AA approximate repeats.|18 X 4 AA approximate repeats.|Pro/Ser/Thr-rich.				carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding			NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		TTGGAAGCCAACAGACCAATA	0.522			T	"DEK, SET, ABL1"	"AML, T-ALL"								20	98					0	0	0.592651	0	0	G	134073213	A	G	134073213	2	3	4	1	0	0	0	0	0	0	0	1	10810	40	2	3		3	NUP214	9	134073213	Silent	SNP	A	TCGA-CS-4943-01A-01D-1468-08	33613704	134073213	7140218	19	166											
GLYAT	10249	broad.mit.edu	37	11	58477535	58477535	+	Missense_Mutation	SNP	G	G	A	rs138125182		TCGA-CS-4943-01A-01D-1468-08	TCGA-CS-4943-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14627ffd-642c-42b5-9d95-ad436c9b1d35	0d4a92bf-0624-4dfa-9d95-8f91a693ea3f	g.chr11:58477535G>A	ENST00000344743.3	-	6	736	c.595C>T	c.(595-597)Cgc>Tgc	p.R199C	GLYAT_ENST00000529732.1_Missense_Mutation_p.R199C	NM_201648.2	NP_964011.2	Q6IB77	GLYAT_HUMAN	glycine-N-acyltransferase	199					acyl-CoA metabolic process|response to toxin|xenobiotic metabolic process	mitochondrial matrix	glycine N-acyltransferase activity|glycine N-benzoyltransferase activity			NS(1)|autonomic_ganglia(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16		Breast(21;0.0044)|all_epithelial(135;0.0157)			Glycine(DB00145)	TGAATGCAGCGCTCAATGAAT	0.502													62	78					0	0	0.870114	0	0	A	58477535	G	A	58477535	3	1	4	1	0	0	0	0	1	0	0	0	6521	1087	38	1	299	1	GLYAT	11	58477535	Missense_Mutation	SNP	G	TCGA-CS-4943-01A-01D-1468-08		58477535	76528981	20	167											
C2CD3	26005	broad.mit.edu	37	11	73829328	73829328	+	Missense_Mutation	SNP	C	C	G			TCGA-CS-4943-01A-01D-1468-08	TCGA-CS-4943-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14627ffd-642c-42b5-9d95-ad436c9b1d35	0d4a92bf-0624-4dfa-9d95-8f91a693ea3f	g.chr11:73829328C>G	ENST00000334126.7	-	9	1691	c.1465G>C	c.(1465-1467)Gtt>Ctt	p.V489L	C2CD3_ENST00000313663.7_Missense_Mutation_p.V489L			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	489						centrosome				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					GACTCCAGAACCTTAGATGAT	0.413													50	75					0	0	0.870114	0	0	G	73829328	C	G	73829328	3	3	4	1	0	0	0	0	1	0	0	0	2168	507	18	5	4518	5	C2CD3	11	73829328	Missense_Mutation	SNP	C	TCGA-CS-4943-01A-01D-1468-08	15351793	73829328	61177188	21	168											
ST14	6768	broad.mit.edu	37	11	130069892	130069892	+	Silent	SNP	C	C	T			TCGA-CS-4943-01A-01D-1468-08	TCGA-CS-4943-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14627ffd-642c-42b5-9d95-ad436c9b1d35	0d4a92bf-0624-4dfa-9d95-8f91a693ea3f	g.chr11:130069892C>T	ENST00000278742.5	+	16	2272	c.1854C>T	c.(1852-1854)ggC>ggT	p.G618G		NM_021978.3	NP_068813.1	Q9Y5Y6	ST14_HUMAN	suppression of tumorigenicity 14 (colon carcinoma)	618	Peptidase S1.				proteolysis	integral to plasma membrane	serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|pancreas(2)|prostate(1)|skin(3)	32	all_hematologic(175;0.0429)	Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228)	Urokinase(DB00013)	TTGTTGGGGGCACGGATGCGG	0.617													6	119					0	0	0.248553	0	0	T	130069892	C	T	130069892	2	4	4	1	0	0	0	0	0	0	0	1	15267	697	25	2		2	ST14	11	130069892	Silent	SNP	C	TCGA-CS-4943-01A-01D-1468-08	56240564	130069892	4936624	22	169											
HOXC13	3229	broad.mit.edu	37	12	54338833	54338833	+	Silent	SNP	G	G	A			TCGA-CS-4943-01A-01D-1468-08	TCGA-CS-4943-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14627ffd-642c-42b5-9d95-ad436c9b1d35	0d4a92bf-0624-4dfa-9d95-8f91a693ea3f	g.chr12:54338833G>A	ENST00000243056.3	+	2	942	c.786G>A	c.(784-786)aaG>aaA	p.K262K		NM_017410.2	NP_059106.2	P31276	HXC13_HUMAN	homeobox C13	262						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|large_intestine(1)|skin(1)	3						GCGGGCGCAAGAAACGCGTGC	0.612			T	NUP98	AML								86	144					0	0	0.870114	0	0	A	54338833	G	A	54338833	2	1	4	1	0	0	0	0	0	0	0	1	7353	933	33	2		2	HOXC13	12	54338833	Silent	SNP	G	TCGA-CS-4943-01A-01D-1468-08		54338833	79513062	23	170											
TBC1D4	9882	broad.mit.edu	37	13	75873512	75873512	+	Missense_Mutation	SNP	T	T	A			TCGA-CS-4943-01A-01D-1468-08	TCGA-CS-4943-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14627ffd-642c-42b5-9d95-ad436c9b1d35	0d4a92bf-0624-4dfa-9d95-8f91a693ea3f	g.chr13:75873512T>A	ENST00000377636.3	-	17	3456	c.3110A>T	c.(3109-3111)gAc>gTc	p.D1037V	TBC1D4_ENST00000425511.1_Missense_Mutation_p.D201V|TBC1D4_ENST00000431480.2_Missense_Mutation_p.D1029V|TBC1D4_ENST00000478591.1_5'UTR|TBC1D4_ENST00000377625.2_Missense_Mutation_p.D974V	NM_014832.2	NP_055647.2	O60343	TBCD4_HUMAN	TBC1 domain family, member 4	1037	Rab-GAP TBC.					cytoplasm	Rab GTPase activator activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		GAAGCCGAGGTCATACATGAG	0.512													3	43					0	0	0.150653	0	0	A	75873512	T	A	75873512	3	1	4	1	0	0	0	0	1	0	0	0	15682	1667	58	5	806	5	TBC1D4	13	75873512	Missense_Mutation	SNP	T	TCGA-CS-4943-01A-01D-1468-08		75873512	39296366	24	171											
DOC2A	8448	broad.mit.edu	37	16	30018527	30018529	+	In_Frame_Del	DEL	CTT	CTT	-	rs139431507	byFrequency	TCGA-CS-4943-01A-01D-1468-08	TCGA-CS-4943-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14627ffd-642c-42b5-9d95-ad436c9b1d35	0d4a92bf-0624-4dfa-9d95-8f91a693ea3f	g.chr16:30018527_30018529delCTT	ENST00000350119.4	-	6	809_811	c.619_621delAAG	c.(619-621)aagdel	p.K207del	DOC2A_ENST00000564979.1_In_Frame_Del_p.K207del|DOC2A_ENST00000564944.1_In_Frame_Del_p.K207del	NM_001282062.1|NM_001282063.1|NM_001282068.1|NM_003586.2	NP_001268991.1|NP_001268992.1|NP_001268997.1|NP_003577.2	Q14183	DOC2A_HUMAN	double C2-like domains, alpha	207					nervous system development|regulation of calcium ion-dependent exocytosis	cell junction|lysosome|synaptic vesicle membrane|synaptosome	calcium-dependent phospholipid binding|protein binding|transporter activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)	9						TGTTAAAATGCTTCTTCTGCGAA	0.635													45	75	---	---	---	---						-	30018529	CTT	-	30018527	7	5	4	1	0	1	0	1	0	0	0	0	4710	796	28	0	605	0	DOC2A	16	30018527	In_Frame_Del	DEL	CTT	TCGA-CS-4943-01A-01D-1468-08		30018527	60336226	25	172											
PLCG2	5336	broad.mit.edu	37	16	81969947	81969947	+	Missense_Mutation	SNP	G	G	A			TCGA-CS-4943-01A-01D-1468-08	TCGA-CS-4943-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14627ffd-642c-42b5-9d95-ad436c9b1d35	0d4a92bf-0624-4dfa-9d95-8f91a693ea3f	g.chr16:81969947G>A	ENST00000359376.3	+	27	3230	c.3016G>A	c.(3016-3018)Ggt>Agt	p.G1006S		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	1006	PI-PLC Y-box.				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						CTGGCTGTGCGGTTCTCAGAT	0.572													51	55					0	0	0.870114	0	0	A	81969947	G	A	81969947	3	1	4	1	0	0	0	0	1	0	0	0	12084	1116	39	1	3118	1	PLCG2	16	81969947	Missense_Mutation	SNP	G	TCGA-CS-4943-01A-01D-1468-08	51951420	81969947	8384806	26	173											
TP53	7157	broad.mit.edu	37	17	7577548	7577548	+	Missense_Mutation	SNP	C	C	T	rs28934575		TCGA-CS-4943-01A-01D-1468-08	TCGA-CS-4943-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14627ffd-642c-42b5-9d95-ad436c9b1d35	0d4a92bf-0624-4dfa-9d95-8f91a693ea3f	g.chr17:7577548C>T	ENST00000420246.2	-	7	865	c.733G>A	c.(733-735)Ggc>Agc	p.G245S	TP53_ENST00000359597.4_Missense_Mutation_p.G245S|TP53_ENST00000445888.2_Missense_Mutation_p.G245S|TP53_ENST00000269305.4_Missense_Mutation_p.G245S|TP53_ENST00000455263.2_Missense_Mutation_p.G245S|TP53_ENST00000413465.2_Missense_Mutation_p.G245S	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	245	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		G -> A (in sporadic cancers; somatic mutation).|G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> E (in a sporadic cancer; somatic mutation).|G -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|G -> L (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934575).|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.G245S(304)|p.G245C(59)|p.G245R(10)|p.G152S(8)|p.0?(8)|p.?(5)|p.G152C(4)|p.G244_M246>V(3)|p.G245N(2)|p.G245fs*2(2)|p.G245H(1)|p.G245L(1)|p.G244fs*17(1)|p.G245F(1)|p.C242_M246>L(1)|p.C238_M246delCNSSCMGGM(1)|p.G245fs*22(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.M243fs*18(1)|p.G151_M153>V(1)|p.G245del(1)|p.G245fs*14(1)|p.G245fs*17(1)|p.G245fs*16(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CGGTTCATGCCGCCCATGCAG	0.577	G245S(LS1034_LARGE_INTESTINE)|G245S(NUGC2_STOMACH)|G245S(PANC0403_PANCREAS)|G245S(SKLMS1_SOFT_TISSUE)|G245S(SKMEL2_SKIN)	111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			4	90					0	0	0.150653	0	0	T	7577548	C	T	7577548	3	4	4	1	0	0	0	0	1	0	0	0	16442	652	23	1	557	1	TP53	17	7577548	Missense_Mutation	SNP	C	TCGA-CS-4943-01A-01D-1468-08		7577548	73617662	27	174											
TP53	7157	broad.mit.edu	37	17	7578190	7578190	+	Missense_Mutation	SNP	T	T	C	rs121912666		TCGA-CS-4943-01A-01D-1468-08	TCGA-CS-4943-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14627ffd-642c-42b5-9d95-ad436c9b1d35	0d4a92bf-0624-4dfa-9d95-8f91a693ea3f	g.chr17:7578190T>C	ENST00000420246.2	-	6	791	c.659A>G	c.(658-660)tAt>tGt	p.Y220C	TP53_ENST00000574684.1_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.Y220C|TP53_ENST00000445888.2_Missense_Mutation_p.Y220C|TP53_ENST00000269305.4_Missense_Mutation_p.Y220C|TP53_ENST00000455263.2_Missense_Mutation_p.Y220C|TP53_ENST00000413465.2_Missense_Mutation_p.Y220C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	220	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 a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.Y220C(278)|p.Y127C(24)|p.Y220S(12)|p.?(11)|p.0?(8)|p.D208fs*1(1)|p.Y220_P223delYEPP(1)|p.V218_E224delVPYEPPE(1)|p.V218_E221delVPYE(1)|p.Y127S(1)|p.V218_Y220delVPY(1)|p.Y220fs*25(1)|p.V216_Y220delVVVPY(1)|p.Y220fs*2(1)|p.V218fs*26(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)		AGGCGGCTCATAGGGCACCAC	0.557		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)			45	8					0	0	0.870114	0	0	C	7578190	T	C	7578190	3	2	4	1	0	0	0	0	1	0	0	0	16442	1406	49	3	635	3	TP53	17	7578190	Missense_Mutation	SNP	T	TCGA-CS-4943-01A-01D-1468-08	642	7578190	73617020	28	175											
CDRT1	374286	broad.mit.edu	37	17	15496762	15496762	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-4943-01A-01D-1468-08	TCGA-CS-4943-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14627ffd-642c-42b5-9d95-ad436c9b1d35	0d4a92bf-0624-4dfa-9d95-8f91a693ea3f	g.chr17:15496762C>T	ENST00000395906.3	-	11	1894	c.1895G>A	c.(1894-1896)tGt>tAt	p.C632Y	CDRT1_ENST00000354433.3_Missense_Mutation_p.C132Y|CDRT1_ENST00000583965.1_Intron|RP11-385D13.1_ENST00000455584.2_Intron	NM_006382.3	NP_006373.2	O95170	CDRT1_HUMAN	CMT1A duplicated region transcript 1	632										endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|stomach(1)|upper_aerodigestive_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(2;1.36e-05)|BRCA - Breast invasive adenocarcinoma(8;0.0541)		GCCATCTGCACAGGCGCTGAT	0.498													15	308					0	0	0.500413	0	0	T	15496762	C	T	15496762	3	4	4	1	0	0	0	0	1	0	0	0	3196	478	17	2	371	2	CDRT1	17	15496762	Missense_Mutation	SNP	C	TCGA-CS-4943-01A-01D-1468-08	7918572	15496762	65698448	29	176											
DDX5	1655	broad.mit.edu	37	17	62498302	62498302	+	Missense_Mutation	SNP	T	T	G			TCGA-CS-4943-01A-01D-1468-08	TCGA-CS-4943-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14627ffd-642c-42b5-9d95-ad436c9b1d35	0d4a92bf-0624-4dfa-9d95-8f91a693ea3f	g.chr17:62498302T>G	ENST00000225792.5	-	10	1535	c.1134A>C	c.(1132-1134)caA>caC	p.Q378H	DDX5_ENST00000578804.1_Missense_Mutation_p.Q378H|DDX5_ENST00000450599.2_Missense_Mutation_p.Q299H	NM_004396.3	NP_004387.1	P17844	DDX5_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 5	378	Helicase C-terminal.				cell growth|regulation of alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|mRNA binding|protein binding|RNA helicase activity|transcription cofactor activity			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	19	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;8.6e-12)			AGTCACGCTCTTGTTGACTCT	0.378			T	ETV4	prostate								10	51					0	0	0.435327	0	0	G	62498302	T	G	62498302	3	3	4	1	0	0	0	0	1	0	0	0	4390	1606	56	5	726	5	DDX5	17	62498302	Missense_Mutation	SNP	T	TCGA-CS-4943-01A-01D-1468-08	47001540	62498302	18696908	30	177											
RYR1	6261	broad.mit.edu	37	19	39070725	39070725	+	Missense_Mutation	SNP	C	C	T	rs148540135		TCGA-CS-4943-01A-01D-1468-08	TCGA-CS-4943-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14627ffd-642c-42b5-9d95-ad436c9b1d35	0d4a92bf-0624-4dfa-9d95-8f91a693ea3f	g.chr19:39070725C>T	ENST00000355481.4	+	99	14584	c.14453C>T	c.(14452-14454)aCg>aTg	p.T4818M	RYR1_ENST00000360985.3_Missense_Mutation_p.T4818M|RYR1_ENST00000359596.3_Missense_Mutation_p.T4823M	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	4823					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GGGGTCAAGACGCTGCGCACC	0.597													43	52					0	0	0.859065	0	0	T	39070725	C	T	39070725	3	4	4	1	0	0	0	0	1	0	0	0	13820	536	19	1	14866	1	RYR1	19	39070725	Missense_Mutation	SNP	C	TCGA-CS-4943-01A-01D-1468-08		39070725	20058258	31	178											
RYR1	6261	broad.mit.edu	37	19	39071043	39071043	+	Missense_Mutation	SNP	G	G	T	rs118192168		TCGA-CS-4943-01A-01D-1468-08	TCGA-CS-4943-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14627ffd-642c-42b5-9d95-ad436c9b1d35	0d4a92bf-0624-4dfa-9d95-8f91a693ea3f	g.chr19:39071043G>T	ENST00000355481.4	+	100	14661	c.14530G>T	c.(14530-14532)Gtc>Ttc	p.V4844F	RYR1_ENST00000360985.3_Missense_Mutation_p.V4844F|RYR1_ENST00000359596.3_Missense_Mutation_p.V4849F	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	4849					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GGCGGTGGTCGTCTACCTGTA	0.602													22	25					6.44725e-10	6.89969e-10	0.624587	1	0	T	39071043	G	T	39071043	3	4	4	1	0	0	0	0	1	0	0	0	13820	1145	40	5	14947	5	RYR1	19	39071043	Missense_Mutation	SNP	G	TCGA-CS-4943-01A-01D-1468-08	318	39071043	20057940	32	179											
SULF2	55959	broad.mit.edu	37	20	46291893	46291893	+	Missense_Mutation	SNP	T	T	C	rs145371797		TCGA-CS-4943-01A-01D-1468-08	TCGA-CS-4943-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14627ffd-642c-42b5-9d95-ad436c9b1d35	0d4a92bf-0624-4dfa-9d95-8f91a693ea3f	g.chr20:46291893T>C	ENST00000359930.4	-	17	3142	c.2291A>G	c.(2290-2292)aAt>aGt	p.N764S	SULF2_ENST00000467815.1_Missense_Mutation_p.N764S|SULF2_ENST00000484875.1_Missense_Mutation_p.N764S|SULF2_ENST00000361612.4_Missense_Mutation_p.N764S	NM_018837.3	NP_061325.1	Q8IWU5	SULF2_HUMAN	sulfatase 2	764					bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						GTGAGTCTCATTGATGGTCCT	0.517											OREG0026005	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	102					0	0	0.184627	0	0	C	46291893	T	C	46291893	3	2	4	1	0	0	0	0	1	0	0	0	15427	1493	52	3	341	3	SULF2	20	46291893	Missense_Mutation	SNP	T	TCGA-CS-4943-01A-01D-1468-08		46291893	16733627	33	180											
USP25	29761	broad.mit.edu	37	21	17238647	17238647	+	Missense_Mutation	SNP	A	A	G			TCGA-CS-4943-01A-01D-1468-08	TCGA-CS-4943-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14627ffd-642c-42b5-9d95-ad436c9b1d35	0d4a92bf-0624-4dfa-9d95-8f91a693ea3f	g.chr21:17238647A>G	ENST00000285681.2	+	21	3044	c.2675A>G	c.(2674-2676)aAc>aGc	p.N892S	USP25_ENST00000285679.6_Missense_Mutation_p.N860S|USP25_ENST00000351097.5_Intron|USP25_ENST00000400183.2_Missense_Mutation_p.N930S	NM_001283042.1	NP_001269971.1	Q9UHP3	UBP25_HUMAN	ubiquitin specific peptidase 25	860					protein modification process|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(4)|endometrium(6)|kidney(2)|large_intestine(13)|liver(5)|lung(14)|ovary(4)|prostate(1)|skin(1)|urinary_tract(2)	52				Epithelial(23;7.55e-05)|all cancers(11;0.000429)|COAD - Colon adenocarcinoma(22;0.00543)|OV - Ovarian serous cystadenocarcinoma(11;0.00743)|Colorectal(24;0.0116)|Lung(58;0.0853)|LUSC - Lung squamous cell carcinoma(23;0.0889)		GAAGAAGTAAACTTGGAGGAA	0.358													16	51					0	0	0.539581	0	0	G	17238647	A	G	17238647	3	3	4	1	0	0	0	0	1	0	0	0	17116	43	2	3	2657	3	USP25	21	17238647	Missense_Mutation	SNP	A	TCGA-CS-4943-01A-01D-1468-08		17238647	30891248	34	181											
RTDR1	27156	broad.mit.edu	37	22	23404005	23404005	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-4943-01A-01D-1468-08	TCGA-CS-4943-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14627ffd-642c-42b5-9d95-ad436c9b1d35	0d4a92bf-0624-4dfa-9d95-8f91a693ea3f	g.chr22:23404005C>T	ENST00000216036.4	-	6	968	c.772G>A	c.(772-774)Gcc>Acc	p.A258T		NM_014433.2	NP_055248.1	Q9UHP6	RTDR1_HUMAN	rhabdoid tumor deletion region gene 1	258							binding			breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	18	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.175)		ATCACTGTGGCGAACATCAGG	0.587													12	24					0	0	0.435327	0	0	T	23404005	C	T	23404005	3	4	4	1	0	0	0	0	1	0	0	0	13771	768	27	1	282	1	RTDR1	22	23404005	Missense_Mutation	SNP	C	TCGA-CS-4943-01A-01D-1468-08		23404005	27900561	35	182											
FBXO7	25793	broad.mit.edu	37	22	32879927	32879927	+	Missense_Mutation	SNP	A	A	G			TCGA-CS-4943-01A-01D-1468-08	TCGA-CS-4943-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14627ffd-642c-42b5-9d95-ad436c9b1d35	0d4a92bf-0624-4dfa-9d95-8f91a693ea3f	g.chr22:32879927A>G	ENST00000266087.7	+	3	788	c.461A>G	c.(460-462)aAt>aGt	p.N154S	FBXO7_ENST00000397426.1_Missense_Mutation_p.N40S|FBXO7_ENST00000382058.3_Missense_Mutation_p.N75S	NM_012179.3	NP_036311.3	Q9Y3I1	FBX7_HUMAN	F-box protein 7	154					cell death|regulation of protein stability|ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						ATTCAAGATAATGCGCATATG	0.383													26	47					0	0	0.681144	0	0	G	32879927	A	G	32879927	3	3	4	1	0	0	0	0	1	0	0	0	5793	101	4	3	512	3	FBXO7	22	32879927	Missense_Mutation	SNP	A	TCGA-CS-4943-01A-01D-1468-08	9475922	32879927	18424639	36	183											
ATRX	546	broad.mit.edu	37	X	76829760	76829760	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CS-4943-01A-01D-1468-08	TCGA-CS-4943-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14627ffd-642c-42b5-9d95-ad436c9b1d35	0d4a92bf-0624-4dfa-9d95-8f91a693ea3f	g.chrX:76829760G>C	ENST00000373344.5	-	28	6495	c.6281C>G	c.(6280-6282)tCa>tGa	p.S2094*	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Nonsense_Mutation_p.S2056*	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	2094	Helicase C-terminal.				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)	CTTCTTCCTTGACTGTGCAGT	0.313			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						69	12					0	0	0.870114	0	0	C	76829760	G	C	76829760	4	2	4	1	0	0	0	0	0	1	0	0	1206	1294	45	5	1229	5	ATRX	23	76829760	Nonsense_Mutation	SNP	G	TCGA-CS-4943-01A-01D-1468-08		76829760	78440800	37	184											
ATRX	546	broad.mit.edu	37	X	76938044	76938044	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CS-4943-01A-01D-1468-08	TCGA-CS-4943-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14627ffd-642c-42b5-9d95-ad436c9b1d35	0d4a92bf-0624-4dfa-9d95-8f91a693ea3f	g.chrX:76938044delT	ENST00000373344.5	-	9	2918	c.2704delA	c.(2704-2706)atgfs	p.M902fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.M864fs	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	902					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)	CTTAATTCCATGATGGTCGTG	0.428			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						7	207	---	---	---	---						-	76938044	T	-	76938044	7	5	4	1	0	1	0	1	0	0	0	0	1206	1464	51	0	4882	0	ATRX	23	76938044	Frame_Shift_Del	DEL	T	TCGA-CS-4943-01A-01D-1468-08	108284	76938044	78332516	38	185											
PCDH11Y	83259	broad.mit.edu	37	Y	5369105	5369105	+	Missense_Mutation	SNP	G	G	T			TCGA-CS-4943-01A-01D-1468-08	TCGA-CS-4943-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14627ffd-642c-42b5-9d95-ad436c9b1d35	0d4a92bf-0624-4dfa-9d95-8f91a693ea3f	g.chrY:5369105G>T	ENST00000215473.6	+	3	3137	c.3137G>T	c.(3136-3138)cGg>cTg	p.R1046L				Q9BZA8	PC11Y_HUMAN	protocadherin 11 Y-linked	1046					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						CAGTCCCAGCGGCGTGTCACA	0.473													3	59					0.00909568	0.00940401	0.150653	1	0	T	5369105	G	T	5369105	3	4	4	1	0	0	0	0	1	0	0	0	11556	1116	39	5	3205	5	PCDH11Y	24	5369105	Missense_Mutation	SNP	G	TCGA-CS-4943-01A-01D-1468-08		5369105	54004461	39	186											
CDC42BPA	8476	broad.mit.edu	37	1	227348328	227348328	+	Silent	SNP	T	T	C			TCGA-CS-4944-01A-01D-1468-08	TCGA-CS-4944-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	471d39e4-2d0b-4f56-8e98-216f5a1baf5d	c4d192e1-a280-4ca9-963d-dc5efaacb683	g.chr1:227348328T>C	ENST00000366769.3	-	6	1900	c.609A>G	c.(607-609)aaA>aaG	p.K203K	CDC42BPA_ENST00000366765.3_Silent_p.K203K|CDC42BPA_ENST00000535525.1_Silent_p.K203K|CDC42BPA_ENST00000366766.2_Silent_p.K203K|CDC42BPA_ENST00000366767.3_Silent_p.K203K|CDC42BPA_ENST00000334218.5_Silent_p.K203K|CDC42BPA_ENST00000366764.2_Silent_p.K203K	NM_003607.3	NP_003598.2	Q5VT25	MRCKA_HUMAN	CDC42 binding protein kinase alpha (DMPK-like)	203	Protein kinase.				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77		all_cancers(173;0.156)|Prostate(94;0.0792)				TATTGTCAGGTTTAATGTCTC	0.284													50	99					0	0	0.870114	0	0	C	227348328	T	C	227348328	2	2	5	1	0	0	0	0	0	0	0	1	3094	1722	60	3		3	CDC42BPA	1	227348328	Silent	SNP	T	TCGA-CS-4944-01A-01D-1468-08		227348328	21902293	1	187											
OR14A16	284532	broad.mit.edu	37	1	247978653	247978653	+	Missense_Mutation	SNP	G	G	T			TCGA-CS-4944-01A-01D-1468-08	TCGA-CS-4944-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	471d39e4-2d0b-4f56-8e98-216f5a1baf5d	c4d192e1-a280-4ca9-963d-dc5efaacb683	g.chr1:247978653G>T	ENST00000357627.1	-	1	378	c.379C>A	c.(379-381)Cct>Act	p.P127T		NM_001001966.1	NP_001001966.1	Q8NHC5	O14AG_HUMAN	olfactory receptor, family 14, subfamily A, member 16	127					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(32)|skin(2)|stomach(1)	45						TAGTGCAGAGGGTGACATATA	0.512													55	126					1.14385e-22	1.3345e-22	0.870114	1	0	T	247978653	G	T	247978653	3	4	5	1	0	0	0	0	1	0	0	0	10993	1232	43	5	554	5	OR14A16	1	247978653	Missense_Mutation	SNP	G	TCGA-CS-4944-01A-01D-1468-08	20630325	247978653	1271968	2	188											
FAM179A	165186	broad.mit.edu	37	2	29247207	29247207	+	Missense_Mutation	SNP	G	G	A			TCGA-CS-4944-01A-01D-1468-08	TCGA-CS-4944-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	471d39e4-2d0b-4f56-8e98-216f5a1baf5d	c4d192e1-a280-4ca9-963d-dc5efaacb683	g.chr2:29247207G>A	ENST00000379558.4	+	13	2171	c.1820G>A	c.(1819-1821)cGc>cAc	p.R607H	FAM179A_ENST00000465300.1_3'UTR|FAM179A_ENST00000403861.2_Missense_Mutation_p.R552H	NM_199280.2	NP_954974.2	Q6ZUX3	F179A_HUMAN	family with sequence similarity 179, member A	607							binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						ACCCTTGCCCGCTCCCTGGTG	0.627													5	19					0	0	0.217242	0	0	A	29247207	G	A	29247207	3	1	5	1	0	0	0	0	1	0	0	0	5535	1087	38	1	1866	1	FAM179A	2	29247207	Missense_Mutation	SNP	G	TCGA-CS-4944-01A-01D-1468-08		29247207	213952166	3	189											
WDR75	84128	broad.mit.edu	37	2	190313123	190313123	+	Silent	SNP	T	T	C			TCGA-CS-4944-01A-01D-1468-08	TCGA-CS-4944-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	471d39e4-2d0b-4f56-8e98-216f5a1baf5d	c4d192e1-a280-4ca9-963d-dc5efaacb683	g.chr2:190313123T>C	ENST00000314761.4	+	2	165	c.105T>C	c.(103-105)tcT>tcC	p.S35S		NM_032168.1	NP_115544.1	Q8IWA0	WDR75_HUMAN	WD repeat domain 75	35						nucleolus				breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.00105)|Epithelial(96;0.0129)|all cancers(119;0.0456)			TCTGTGTCTCTGGAGACTTTG	0.368													33	55					0	0	0.769981	0	0	C	190313123	T	C	190313123	2	2	5	1	0	0	0	0	0	0	0	1	17385	1567	55	3		3	WDR75	2	190313123	Silent	SNP	T	TCGA-CS-4944-01A-01D-1468-08	161065916	190313123	52886250	4	190											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-CS-4944-01A-01D-1468-08	TCGA-CS-4944-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	471d39e4-2d0b-4f56-8e98-216f5a1baf5d	c4d192e1-a280-4ca9-963d-dc5efaacb683	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								28	63					0	0	0.729181	0	0	T	209113112	C	T	209113112	3	4	5	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-CS-4944-01A-01D-1468-08	18799989	209113112	34086261	5	191											
COL6A3	1293	broad.mit.edu	37	2	238280668	238280668	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-4944-01A-01D-1468-08	TCGA-CS-4944-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	471d39e4-2d0b-4f56-8e98-216f5a1baf5d	c4d192e1-a280-4ca9-963d-dc5efaacb683	g.chr2:238280668C>T	ENST00000295550.4	-	9	4444	c.3992G>A	c.(3991-3993)cGc>cAc	p.R1331H	COL6A3_ENST00000347401.3_Missense_Mutation_p.R1130H|COL6A3_ENST00000472056.1_Missense_Mutation_p.R724H|COL6A3_ENST00000392003.2_Missense_Mutation_p.R924H|COL6A3_ENST00000353578.4_Missense_Mutation_p.R1125H|COL6A3_ENST00000392004.3_Missense_Mutation_p.R1125H|COL6A3_ENST00000409809.1_Missense_Mutation_p.R1125H|COL6A3_ENST00000346358.4_Missense_Mutation_p.R1131H	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1331	Nonhelical region.|VWFA 7.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CTCTTCAATGCGGCTCCCCAG	0.632													28	39					0	0	0.693898	0	0	T	238280668	C	T	238280668	3	4	5	1	0	0	0	0	1	0	0	0	3724	768	27	1	5732	1	COL6A3	2	238280668	Missense_Mutation	SNP	C	TCGA-CS-4944-01A-01D-1468-08	29167556	238280668	4918705	6	192											
PDHB	5162	broad.mit.edu	37	3	58413838	58413838	+	Missense_Mutation	SNP	C	C	A			TCGA-CS-4944-01A-01D-1468-08	TCGA-CS-4944-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	471d39e4-2d0b-4f56-8e98-216f5a1baf5d	c4d192e1-a280-4ca9-963d-dc5efaacb683	g.chr3:58413838C>A	ENST00000302746.6	-	10	1045	c.1003G>T	c.(1003-1005)Gca>Tca	p.A335S	PDHB_ENST00000474765.1_3'UTR|PDHB_ENST00000485460.1_Missense_Mutation_p.A317S	NM_000925.3|NM_001173468.1	NP_000916.2|NP_001166939.1	P11177	ODPB_HUMAN	pyruvate dehydrogenase (lipoamide) beta	335					glycolysis|regulation of acetyl-CoA biosynthetic process from pyruvate|tricarboxylic acid cycle	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)	9				BRCA - Breast invasive adenocarcinoma(55;0.000179)|Kidney(10;0.00231)|KIRC - Kidney renal clear cell carcinoma(10;0.00258)|OV - Ovarian serous cystadenocarcinoma(275;0.187)	NADH(DB00157)|Pyruvic acid(DB00119)	AGAATCTTTGCATAAGGCATA	0.418													3	71					0.115264	0.121027	0.115264	1	0	A	58413838	C	A	58413838	3	1	5	1	0	0	0	0	1	0	0	0	11713	710	25	5	80	5	PDHB	3	58413838	Missense_Mutation	SNP	C	TCGA-CS-4944-01A-01D-1468-08		58413838	139608592	7	193											
SLC25A36	55186	broad.mit.edu	37	3	140682063	140682063	+	Missense_Mutation	SNP	A	A	G			TCGA-CS-4944-01A-01D-1468-08	TCGA-CS-4944-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	471d39e4-2d0b-4f56-8e98-216f5a1baf5d	c4d192e1-a280-4ca9-963d-dc5efaacb683	g.chr3:140682063A>G	ENST00000446041.2	+	4	604	c.379A>G	c.(379-381)Atg>Gtg	p.M127V	SLC25A36_ENST00000453248.2_Missense_Mutation_p.M101V|SLC25A36_ENST00000507429.1_Missense_Mutation_p.M127V|SLC25A36_ENST00000324194.6_Missense_Mutation_p.M127V|SLC25A36_ENST00000393015.4_3'UTR	NM_001104647.1|NM_018155.2	NP_001098117.1|NP_060625.2	Q96CQ1	S2536_HUMAN	solute carrier family 25 (pyrimidine nucleotide carrier ), member 36	127					response to estradiol stimulus|transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			endometrium(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	6						TTCAGCTGCAATGGCAGGTAT	0.289													45	85					0	0	0.840704	0	0	G	140682063	A	G	140682063	3	3	5	1	0	0	0	0	1	0	0	0	14555	101	4	3	393	3	SLC25A36	3	140682063	Missense_Mutation	SNP	A	TCGA-CS-4944-01A-01D-1468-08	82268225	140682063	57340367	8	194											
UGT2A3	79799	broad.mit.edu	37	4	69795535	69795535	+	Missense_Mutation	SNP	T	T	C			TCGA-CS-4944-01A-01D-1468-08	TCGA-CS-4944-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	471d39e4-2d0b-4f56-8e98-216f5a1baf5d	c4d192e1-a280-4ca9-963d-dc5efaacb683	g.chr4:69795535T>C	ENST00000251566.4	-	6	1610	c.1580A>G	c.(1579-1581)gAa>gGa	p.E527G	UGT2A3_ENST00000420231.2_Missense_Mutation_p.E238G	NM_024743.3	NP_079019.3	Q6UWM9	UD2A3_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A3	527						integral to membrane	glucuronosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						AAAGATCTATTCCCTCTTTTC	0.328													35	67					0	0	0.779181	0	0	C	69795535	T	C	69795535	3	2	5	1	0	0	0	0	1	0	0	0	17015	1783	62	3	7	3	UGT2A3	4	69795535	Missense_Mutation	SNP	T	TCGA-CS-4944-01A-01D-1468-08		69795535	121358741	9	195											
PIK3R1	5295	broad.mit.edu	37	5	67522794	67522795	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CS-4944-01A-01D-1468-08	TCGA-CS-4944-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	471d39e4-2d0b-4f56-8e98-216f5a1baf5d	c4d192e1-a280-4ca9-963d-dc5efaacb683	g.chr5:67522794_67522795insG	ENST00000521381.1	+	2	907_908	c.291_292insG	c.(292-294)gcafs	p.A98fs	PIK3R1_ENST00000274335.5_Frame_Shift_Ins_p.A98fs|PIK3R1_ENST00000521657.1_Frame_Shift_Ins_p.A98fs|PIK3R1_ENST00000396611.1_Frame_Shift_Ins_p.A98fs	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	98					epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.0?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	CTCTTCCTGTTGCACCAGGTTC	0.455			"Mis, F, O"		"gliobastoma, ovarian, colorectal"					TCGA GBM(4;<1E-08)			36	98	---	---	---	---						G	67522795	-	G	67522794	7	5	5	1	0	1	1	0	0	0	0	0	11966	1799	63	0	293	0	PIK3R1	5	67522794	Frame_Shift_Ins	INS	-	TCGA-CS-4944-01A-01D-1468-08		67522794	113392466	10	196											
ZNF12	7559	broad.mit.edu	37	7	6737039	6737039	+	Missense_Mutation	SNP	T	T	A			TCGA-CS-4944-01A-01D-1468-08	TCGA-CS-4944-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	471d39e4-2d0b-4f56-8e98-216f5a1baf5d	c4d192e1-a280-4ca9-963d-dc5efaacb683	g.chr7:6737039T>A	ENST00000405858.1	-	4	710	c.169A>T	c.(169-171)Atc>Ttc	p.I57F	AC073343.13_ENST00000366167.2_RNA|ZNF12_ENST00000342651.5_Missense_Mutation_p.I57F|ZNF12_ENST00000404360.1_Missense_Mutation_p.I21F	NM_006956.2|NM_016265.3	NP_008887.2|NP_057349.2	P17014	ZNF12_HUMAN	zinc finger protein 12	57	KRAB.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(3)	16		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0231)		AACTTGCTGATAACATCCGGT	0.463													10	14					0	0	0.435327	0	0	A	6737039	T	A	6737039	3	1	5	1	0	0	0	0	1	0	0	0	17776	1406	49	4	1932	4	ZNF12	7	6737039	Missense_Mutation	SNP	T	TCGA-CS-4944-01A-01D-1468-08		6737039	152401624	11	197											
DLX5	1749	broad.mit.edu	37	7	96651642	96651642	+	Missense_Mutation	SNP	C	C	A			TCGA-CS-4944-01A-01D-1468-08	TCGA-CS-4944-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	471d39e4-2d0b-4f56-8e98-216f5a1baf5d	c4d192e1-a280-4ca9-963d-dc5efaacb683	g.chr7:96651642C>A	ENST00000222598.4	-	2	868	c.395G>T	c.(394-396)gGc>gTc	p.G132V	DLX5_ENST00000486603.2_Missense_Mutation_p.G132V|DLX5_ENST00000493764.1_Intron	NM_005221.5	NP_005212.1	P56178	DLX5_HUMAN	distal-less homeobox 5	132					cell proliferation|endochondral ossification|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)	20	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)					CTTTGGTTTGCCATTCACCAT	0.463													53	89					7.91745e-34	9.78038e-34	0.870114	1	0	A	96651642	C	A	96651642	3	1	5	1	0	0	0	0	1	0	0	0	4602	739	26	5	482	5	DLX5	7	96651642	Missense_Mutation	SNP	C	TCGA-CS-4944-01A-01D-1468-08	89914603	96651642	62487021	12	198											
FAM83H	286077	broad.mit.edu	37	8	144808629	144808629	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-4944-01A-01D-1468-08	TCGA-CS-4944-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	471d39e4-2d0b-4f56-8e98-216f5a1baf5d	c4d192e1-a280-4ca9-963d-dc5efaacb683	g.chr8:144808629C>T	ENST00000388913.3	-	5	3127	c.3002G>A	c.(3001-3003)cGt>cAt	p.R1001H		NM_198488.3	NP_940890	Q6ZRV2	FA83H_HUMAN	family with sequence similarity 83, member H	1001					biomineral tissue development					central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1)	21	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			CAGTGACAGACGCCGCGGGCT	0.697													6	8					0	0	0.248553	0	0	T	144808629	C	T	144808629	3	4	5	1	0	0	0	0	1	0	0	0	5672	536	19	1	541	1	FAM83H	8	144808629	Missense_Mutation	SNP	C	TCGA-CS-4944-01A-01D-1468-08		144808629	1555393	13	199											
KDM4C	23081	broad.mit.edu	37	9	7128074	7128075	+	Frame_Shift_Del	DEL	GG	GG	-			TCGA-CS-4944-01A-01D-1468-08	TCGA-CS-4944-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	471d39e4-2d0b-4f56-8e98-216f5a1baf5d	c4d192e1-a280-4ca9-963d-dc5efaacb683	g.chr9:7128074_7128075delGG	ENST00000381309.3	+	19	3184_3185	c.2619_2620delGG	c.(2617-2622)aaggctfs	p.KA873fs	KDM4C_ENST00000428870.2_Frame_Shift_Del_p.KA560fs|KDM4C_ENST00000381306.3_Frame_Shift_Del_p.KA873fs|KDM4C_ENST00000442236.2_Frame_Shift_Del_p.KA618fs|KDM4C_ENST00000536108.1_3'UTR	NM_015061.3	NP_055876.2	Q9H3R0	KDM4C_HUMAN	lysine (K)-specific demethylase 4C	873					positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	nuclear chromatin	androgen receptor binding|enzyme binding|histone demethylase activity (H3-K9 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43						AGAAGTCCAAGGCTTGCGAGAA	0.411													34	79	---	---	---	---						-	7128075	GG	-	7128074	7	5	5	1	0	1	0	1	0	0	0	0	8174	991	35	0	2781	0	KDM4C	9	7128074	Frame_Shift_Del	DEL	GG	TCGA-CS-4944-01A-01D-1468-08		7128074	134085357	14	200											
SFMBT2	57713	broad.mit.edu	37	10	7214050	7214050	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-4944-01A-01D-1468-08	TCGA-CS-4944-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	471d39e4-2d0b-4f56-8e98-216f5a1baf5d	c4d192e1-a280-4ca9-963d-dc5efaacb683	g.chr10:7214050C>T	ENST00000361972.4	-	19	2312	c.2222G>A	c.(2221-2223)cGg>cAg	p.R741Q	SFMBT2_ENST00000397167.1_Missense_Mutation_p.R741Q	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	741					regulation of transcription, DNA-dependent	nucleus				NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						CTGGTCATCCCGGAGCTCGGA	0.692													9	16					0	0	0.38729	0	0	T	7214050	C	T	7214050	3	4	5	1	0	0	0	0	1	0	0	0	14212	652	23	1	474	1	SFMBT2	10	7214050	Missense_Mutation	SNP	C	TCGA-CS-4944-01A-01D-1468-08		7214050	128320697	15	201											
KIF20B	9585	broad.mit.edu	37	10	91477448	91477448	+	Missense_Mutation	SNP	A	A	G			TCGA-CS-4944-01A-01D-1468-08	TCGA-CS-4944-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	471d39e4-2d0b-4f56-8e98-216f5a1baf5d	c4d192e1-a280-4ca9-963d-dc5efaacb683	g.chr10:91477448A>G	ENST00000416354.1	+	11	1312	c.1240A>G	c.(1240-1242)Att>Gtt	p.I414V	KIF20B_ENST00000260753.4_Missense_Mutation_p.I414V|KIF20B_ENST00000394289.2_Missense_Mutation_p.I414V|KIF20B_ENST00000371728.3_Missense_Mutation_p.I414V			Q96Q89	KI20B_HUMAN	kinesin family member 20B	414					cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis	centrosome|microtubule|nucleolus|nucleoplasm|spindle	ATP binding|ATPase activity|microtubule motor activity|WW domain binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						GGGAAAGTGTATTAACGTCTT	0.313													6	194					0	0	0.217242	0	0	G	91477448	A	G	91477448	3	3	5	1	0	0	0	0	1	0	0	0	8329	449	16	3	1278	3	KIF20B	10	91477448	Missense_Mutation	SNP	A	TCGA-CS-4944-01A-01D-1468-08	84263398	91477448	44057299	16	202											
LCOR	84458	broad.mit.edu	37	10	98709000	98709000	+	Missense_Mutation	SNP	C	C	G			TCGA-CS-4944-01A-01D-1468-08	TCGA-CS-4944-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	471d39e4-2d0b-4f56-8e98-216f5a1baf5d	c4d192e1-a280-4ca9-963d-dc5efaacb683	g.chr10:98709000C>G	ENST00000540664.1	+	6	729	c.186C>G	c.(184-186)gaC>gaG	p.D62E	LCOR_ENST00000371097.4_Missense_Mutation_p.D62E|LCOR_ENST00000371103.3_Missense_Mutation_p.D62E|LCOR_ENST00000356016.3_Missense_Mutation_p.D62E|LCOR_ENST00000498444.1_3'UTR	NM_001170765.1|NM_001170766.1	NP_001164236.1|NP_001164237.1			ligand dependent nuclear receptor corepressor											endometrium(3)|kidney(1)|large_intestine(3)|lung(1)|ovary(3)|prostate(1)|urinary_tract(1)	13		Colorectal(252;0.162)		Epithelial(162;4.43e-09)|all cancers(201;2.96e-07)		CTGACCAAGACTCACCTCTGG	0.483													77	125					0	0	0.870114	0	0	G	98709000	C	G	98709000	3	3	5	1	0	0	0	0	1	0	0	0	8728	564	20	4	188	4	LCOR	10	98709000	Missense_Mutation	SNP	C	TCGA-CS-4944-01A-01D-1468-08	7231552	98709000	36825747	17	203											
PTPN5	84867	broad.mit.edu	37	11	18754164	18754164	+	Missense_Mutation	SNP	T	T	C			TCGA-CS-4944-01A-01D-1468-08	TCGA-CS-4944-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	471d39e4-2d0b-4f56-8e98-216f5a1baf5d	c4d192e1-a280-4ca9-963d-dc5efaacb683	g.chr11:18754164T>C	ENST00000396170.1	-	12	2472	c.1208A>G	c.(1207-1209)tAc>tGc	p.Y403C	PTPN5_ENST00000358540.2_Missense_Mutation_p.Y435C|RP11-1081L13.4_ENST00000527285.1_RNA|PTPN5_ENST00000396168.1_Missense_Mutation_p.Y411C|PTPN5_ENST00000396171.4_Missense_Mutation_p.Y435C|PTPN5_ENST00000477854.1_Missense_Mutation_p.Y239C|PTPN5_ENST00000396167.2_Missense_Mutation_p.Y403C	NM_001278236.1	NP_001265165.1	P54829	PTN5_HUMAN	protein tyrosine phosphatase, non-receptor type 5 (striatum-enriched)	435	Tyrosine-protein phosphatase.					integral to membrane	phosphotyrosine binding|protein tyrosine phosphatase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(4)	27						TCGCAGCCGGTAATCCTCCGT	0.592											OREG0020824	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	258					0	0	0.27861	0	0	C	18754164	T	C	18754164	3	2	5	1	0	0	0	0	1	0	0	0	12843	1638	57	3	409	3	PTPN5	11	18754164	Missense_Mutation	SNP	T	TCGA-CS-4944-01A-01D-1468-08		18754164	116252352	18	204											
CLIP1	6249	broad.mit.edu	37	12	122758652	122758652	+	Missense_Mutation	SNP	T	T	C			TCGA-CS-4944-01A-01D-1468-08	TCGA-CS-4944-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	471d39e4-2d0b-4f56-8e98-216f5a1baf5d	c4d192e1-a280-4ca9-963d-dc5efaacb683	g.chr12:122758652T>C	ENST00000358808.2	-	24	4145	c.3991A>G	c.(3991-3993)Atg>Gtg	p.M1331V	CLIP1_ENST00000540338.1_Missense_Mutation_p.M1342V|CLIP1_ENST00000361654.4_Missense_Mutation_p.M1220V|CLIP1_ENST00000545889.1_Missense_Mutation_p.M917V|CLIP1_ENST00000537178.1_Missense_Mutation_p.M1296V|CLIP1_ENST00000536634.1_5'UTR|CLIP1_ENST00000540539.1_Missense_Mutation_p.M21V|CLIP1_ENST00000302528.7_Missense_Mutation_p.M1331V	NM_001247997.1|NM_002956.2	NP_001234926.1|NP_002947.1	P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1	1342					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)		TCCACCTTCATCTTGAGGTCT	0.343													127	197					0	0	0.870114	0	0	C	122758652	T	C	122758652	3	2	5	1	0	0	0	0	1	0	0	0	3555	1435	50	3	300	3	CLIP1	12	122758652	Missense_Mutation	SNP	T	TCGA-CS-4944-01A-01D-1468-08		122758652	11093243	19	205											
SMOC1	64093	broad.mit.edu	37	14	70490099	70490099	+	Missense_Mutation	SNP	A	A	T			TCGA-CS-4944-01A-01D-1468-08	TCGA-CS-4944-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	471d39e4-2d0b-4f56-8e98-216f5a1baf5d	c4d192e1-a280-4ca9-963d-dc5efaacb683	g.chr14:70490099A>T	ENST00000381280.4	+	11	1479	c.1226A>T	c.(1225-1227)gAc>gTc	p.D409V	SMOC1_ENST00000361956.3_Missense_Mutation_p.D409V	NM_001034852.2|NM_022137.5	NP_001030024.1|NP_071420.1	Q9H4F8	SMOC1_HUMAN	SPARC related modular calcium binding 1	409	EF-hand 2.				cell differentiation|eye development|limb development|regulation of osteoblast differentiation|signal transduction	basement membrane	calcium ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	21				all cancers(60;0.00417)|BRCA - Breast invasive adenocarcinoma(234;0.0119)|OV - Ovarian serous cystadenocarcinoma(108;0.028)		GACTACTGTGACCTGAACAAA	0.522													5	176					0	0	0.184627	0	0	T	70490099	A	T	70490099	3	4	5	1	0	0	0	0	1	0	0	0	14855	275	10	5	1268	5	SMOC1	14	70490099	Missense_Mutation	SNP	A	TCGA-CS-4944-01A-01D-1468-08		70490099	36859441	20	206											
TSHR	7253	broad.mit.edu	37	14	81610525	81610525	+	Missense_Mutation	SNP	G	G	T			TCGA-CS-4944-01A-01D-1468-08	TCGA-CS-4944-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	471d39e4-2d0b-4f56-8e98-216f5a1baf5d	c4d192e1-a280-4ca9-963d-dc5efaacb683	g.chr14:81610525G>T	ENST00000541158.2	+	11	2445	c.2123G>T	c.(2122-2124)gGg>gTg	p.G708V	RP11-114N19.3_ENST00000557775.1_RNA|TSHR_ENST00000298171.2_Missense_Mutation_p.G708V			P16473	TSHR_HUMAN	thyroid stimulating hormone receptor	708					cell-cell signaling|positive regulation of cell proliferation	integral to plasma membrane	protein binding|thyroid-stimulating hormone receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1)	337				BRCA - Breast invasive adenocarcinoma(234;0.0402)	Thyrotropin Alfa(DB00024)	GCATACCGGGGGCAGAGGGTT	0.498			Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism						58	113					1.20869e-33	1.45043e-33	0.870114	1	0	T	81610525	G	T	81610525	3	4	5	1	0	0	0	0	1	0	0	0	16683	1232	43	5	2298	5	TSHR	14	81610525	Missense_Mutation	SNP	G	TCGA-CS-4944-01A-01D-1468-08	11120426	81610525	25739015	21	207											
GABRG3	2567	broad.mit.edu	37	15	27574011	27574011	+	Missense_Mutation	SNP	T	T	C			TCGA-CS-4944-01A-01D-1468-08	TCGA-CS-4944-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	471d39e4-2d0b-4f56-8e98-216f5a1baf5d	c4d192e1-a280-4ca9-963d-dc5efaacb683	g.chr15:27574011T>C	ENST00000333743.6	+	5	804	c.550T>C	c.(550-552)Tcc>Ccc	p.S184P	GABRG3_ENST00000555083.1_Missense_Mutation_p.S184P	NM_033223.4	NP_150092.2	Q99928	GBRG3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 3	184					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(23)|skin(1)|upper_aerodigestive_tract(4)	42		all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235)		all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261)		GGACGAACACTCCTGCCCGCT	0.557													14	31					0	0	0.457914	0	0	C	27574011	T	C	27574011	3	2	5	1	0	0	0	0	1	0	0	0	6208	1551	54	3	568	3	GABRG3	15	27574011	Missense_Mutation	SNP	T	TCGA-CS-4944-01A-01D-1468-08		27574011	74957381	22	208											
HPR	3250	broad.mit.edu	37	16	72110680	72110680	+	Silent	SNP	C	C	T			TCGA-CS-4944-01A-01D-1468-08	TCGA-CS-4944-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	471d39e4-2d0b-4f56-8e98-216f5a1baf5d	c4d192e1-a280-4ca9-963d-dc5efaacb683	g.chr16:72110680C>T	ENST00000540303.2	+	5	779	c.747C>T	c.(745-747)taC>taT	p.Y249Y	HPR_ENST00000561690.1_Intron|HPR_ENST00000356967.5_Silent_p.Y249Y|HPR_ENST00000228226.8_Silent_p.Y286Y	NM_020995.3	NP_066275.3	P00739	HPTR_HUMAN	haptoglobin-related protein	249	Peptidase S1.				proteolysis	spherical high-density lipoprotein particle	hemoglobin binding|serine-type endopeptidase activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|stomach(1)|urinary_tract(2)	20		Ovarian(137;0.125)				CTGACCAATACGATTGCATAA	0.507													35	67					0	0	0.769981	0	0	T	72110680	C	T	72110680	2	4	5	1	0	0	0	0	0	0	0	1	7378	547	19	1		1	HPR	16	72110680	Silent	SNP	C	TCGA-CS-4944-01A-01D-1468-08		72110680	18244073	23	209											
DMKN	93099	broad.mit.edu	37	19	36002345	36002345	+	Missense_Mutation	SNP	T	T	C			TCGA-CS-4944-01A-01D-1468-08	TCGA-CS-4944-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	471d39e4-2d0b-4f56-8e98-216f5a1baf5d	c4d192e1-a280-4ca9-963d-dc5efaacb683	g.chr19:36002345T>C	ENST00000339686.3	-	5	1062	c.886A>G	c.(886-888)Agc>Ggc	p.S296G	DMKN_ENST00000424570.2_Missense_Mutation_p.S296G|DMKN_ENST00000451297.2_Missense_Mutation_p.S296G|DMKN_ENST00000429837.1_Intron|DMKN_ENST00000440396.1_Missense_Mutation_p.S296G|DMKN_ENST00000419602.1_Intron|DMKN_ENST00000418261.1_Missense_Mutation_p.S296G|DMKN_ENST00000447113.2_Missense_Mutation_p.S296G	NM_033317.4	NP_201574	Q6E0U4	DMKN_HUMAN	dermokine	296	Gly-rich.					extracellular region				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(2)	27	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			TCACCTctgctgccaccactg	0.647													6	4					0	0	0.411799	0	0	C	36002345	T	C	36002345	3	2	5	1	0	0	0	0	1	0	0	0	4610	1580	55	3	909	3	DMKN	19	36002345	Missense_Mutation	SNP	T	TCGA-CS-4944-01A-01D-1468-08		36002345	23126638	24	210											
COL18A1	80781	broad.mit.edu	37	21	46925852	46925852	+	Missense_Mutation	SNP	G	G	A			TCGA-CS-4944-01A-01D-1468-08	TCGA-CS-4944-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	471d39e4-2d0b-4f56-8e98-216f5a1baf5d	c4d192e1-a280-4ca9-963d-dc5efaacb683	g.chr21:46925852G>A	ENST00000359759.4	+	36	4454	c.4433G>A	c.(4432-4434)cGc>cAc	p.R1478H	SLC19A1_ENST00000567670.1_Intron|COL18A1_ENST00000400337.2_Missense_Mutation_p.R1063H|COL18A1_ENST00000355480.5_Missense_Mutation_p.R1243H			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	1478	Nonhelical region 11 (NC11).				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		CTCTACGTCCGCGTGCAGAAC	0.667													41	91					0	0	0.847076	0	0	A	46925852	G	A	46925852	3	1	5	1	0	0	0	0	1	0	0	0	3698	1087	38	1	4684	1	COL18A1	21	46925852	Missense_Mutation	SNP	G	TCGA-CS-4944-01A-01D-1468-08		46925852	1204043	25	211											
SLC7A3	84889	broad.mit.edu	37	X	70148834	70148834	+	Missense_Mutation	SNP	C	C	A			TCGA-CS-4944-01A-01D-1468-08	TCGA-CS-4944-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	471d39e4-2d0b-4f56-8e98-216f5a1baf5d	c4d192e1-a280-4ca9-963d-dc5efaacb683	g.chrX:70148834C>A	ENST00000374299.3	-	3	533	c.389G>T	c.(388-390)cGg>cTg	p.R130L	SLC7A3_ENST00000298085.4_Missense_Mutation_p.R130L			Q8WY07	CTR3_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 3	130					cellular nitrogen compound metabolic process	integral to membrane|plasma membrane				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|urinary_tract(1)	31	Renal(35;0.156)				L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	GCTCCAGGCCCGGGCCACACT	0.547													3	46					0.00909568	0.00979535	0.150653	1	0	A	70148834	C	A	70148834	3	1	5	1	0	0	0	0	1	0	0	0	14753	652	23	5	1510	5	SLC7A3	23	70148834	Missense_Mutation	SNP	C	TCGA-CS-4944-01A-01D-1468-08		70148834	85121726	26	212											
AGMAT	79814	broad.mit.edu	37	1	15904231	15904231	+	Silent	SNP	G	G	A			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr1:15904231G>A	ENST00000375826.3	-	5	991	c.849C>T	c.(847-849)gcC>gcT	p.A283A	DNAJC16_ENST00000483270.1_Intron	NM_024758.4	NP_079034.3	Q9BSE5	SPEB_HUMAN	agmatine ureohydrolase (agmatinase)	283					putrescine biosynthetic process|spermidine biosynthetic process	mitochondrion	agmatinase activity|metal ion binding			endometrium(1)|kidney(2)|large_intestine(6)|lung(2)|skin(1)	12		Breast(348;0.000207)|Colorectal(325;0.000258)|Lung NSC(340;0.000359)|all_lung(284;0.000486)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.93e-07)|COAD - Colon adenocarcinoma(227;3.91e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000121)|KIRC - Kidney renal clear cell carcinoma(229;0.00257)|STAD - Stomach adenocarcinoma(313;0.00734)|READ - Rectum adenocarcinoma(331;0.0649)		CTGGCGCATAGGCAGGATCCA	0.527													5	59					0	0	0.021553	0	0	A	15904231	G	A	15904231	2	1	6	1	0	0	0	0	0	0	0	1	382	987	35	2		2	AGMAT	1	15904231	Silent	SNP	G	TCGA-CS-5390-01A-02D-1468-08		15904231	233346390	1	213											
HOOK1	51361	broad.mit.edu	37	1	60314160	60314160	+	Missense_Mutation	SNP	G	G	A	rs143143349		TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr1:60314160G>A	ENST00000371208.3	+	11	1360	c.1103G>A	c.(1102-1104)cGt>cAt	p.R368H	HOOK1_ENST00000395561.2_Missense_Mutation_p.R326H|HOOK1_ENST00000465876.1_3'UTR	NM_015888.4	NP_056972.1	Q9UJC3	HOOK1_HUMAN	hook microtubule-tethering protein 1	368	Sufficient for interaction with microtubules.				early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|multicellular organismal development|protein transport	FHF complex|microtubule	identical protein binding			biliary_tract(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|urinary_tract(1)	29	all_cancers(7;0.000129)					AATGCAGCACGTACACAATTA	0.308													42	20					0	0	0.042209	0	0	A	60314160	G	A	60314160	3	1	6	1	0	0	0	0	1	0	0	0	7323	1145	40	1	1145	1	HOOK1	1	60314160	Missense_Mutation	SNP	G	TCGA-CS-5390-01A-02D-1468-08	44409929	60314160	188936461	2	214											
SERBP1	26135	broad.mit.edu	37	1	67895672	67895675	+	Splice_Site	DEL	TTCT	TTCT	-			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr1:67895672_67895675delTTCT	ENST00000370994.4	-	1	423_426	c.309_312delAGAA	c.(307-312)aaagaa>aa	p.KE103fs	SERBP1_ENST00000361219.6_Splice_Site_p.KE103fs|SERBP1_ENST00000370995.2_Splice_Site_p.KE103fs|SERBP1_ENST00000370990.5_Splice_Site_p.KE103fs	NM_001018067.1|NM_001018068.1|NM_001018069.1|NM_015640.3	NP_001018077.1|NP_001018078.1|NP_001018079.1|NP_056455.3	Q8NC51	PAIRB_HUMAN	SERPINE1 mRNA binding protein 1	103					regulation of mRNA stability	nucleus|perinuclear region of cytoplasm	mRNA 3'-UTR binding|protein binding			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(2)	13						CTGCTTTACCTTCTTTCTTAAGCG	0.632													36	108	---	---	---	---						-	67895675	TTCT	-	67895672	8	5	6	1	0	1	0	1	0	0	1	0	14129	1623	56	0	946	0	SERBP1	1	67895672	Splice_Site	DEL	TTCT	TCGA-CS-5390-01A-02D-1468-08	7581512	67895672	181354949	3	215											
LRRC7	57554	broad.mit.edu	37	1	70452024	70452024	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr1:70452024C>T	ENST00000310961.5	+	11	1205	c.787C>T	c.(787-789)Ctc>Ttc	p.L263F	LRRC7_ENST00000415775.2_5'UTR|LRRC7_ENST00000035383.5_Missense_Mutation_p.L258F			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	258						centrosome|focal adhesion|nucleolus	protein binding	p.L258I(1)		breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						CCTTGAGGACCTCTTATTGTC	0.328													25	19					0	0	0.0918	0	0	T	70452024	C	T	70452024	3	4	6	1	0	0	0	0	1	0	0	0	9065	681	24	2	802	2	LRRC7	1	70452024	Missense_Mutation	SNP	C	TCGA-CS-5390-01A-02D-1468-08	2556352	70452024	178798597	4	216											
FUBP1	8880	broad.mit.edu	37	1	78430845	78430845	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr1:78430845C>A	ENST00000370767.1	-	8	631	c.544G>T	c.(544-546)Gga>Tga	p.G182*	FUBP1_ENST00000370768.2_Nonsense_Mutation_p.G182*|FUBP1_ENST00000436586.2_Nonsense_Mutation_p.G203*			Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1	182					transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						TTTCCCGGTCCATCGCCATGA	0.408			"F, N"		oligodendroglioma								8	122					4.68919e-08	5.32862e-08	0.069234	1	0	A	78430845	C	A	78430845	4	1	6	1	0	0	0	0	0	1	0	0	6127	603	21	5	1442	5	FUBP1	1	78430845	Nonsense_Mutation	SNP	C	TCGA-CS-5390-01A-02D-1468-08	7978821	78430845	170819776	5	217											
NRAS	4893	broad.mit.edu	37	1	115256530	115256530	+	Missense_Mutation	SNP	G	G	T	rs121913254		TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr1:115256530G>T	ENST00000369535.4	-	3	434	c.181C>A	c.(181-183)Caa>Aaa	p.Q61K		NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	61			Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	Golgi membrane|plasma membrane	GTP binding|GTPase activity	p.Q61K(595)|p.Q61E(9)|p.Q61L(3)|p.Q61R(2)|p.G60>?(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TACTCTTCTTGTCCAGCTGTA	0.458	Q61K(CHP212_AUTONOMIC_GANGLIA)|Q61K(HCC15_LUNG)|Q61K(HS936T_SKIN)|Q61K(HS944T_SKIN)|Q61K(HT1080_SOFT_TISSUE)|Q61K(HUT78_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(M07E_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(NCIH1299_LUNG)|Q61K(NCIH2087_LUNG)|Q61K(OCILY19_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(SKNAS_AUTONOMIC_GANGLIA)|Q61K(SKNSH_AUTONOMIC_GANGLIA)|Q61K(TYKNU_OVARY)	50	Mis		"melanoma, MM, AML, thyroid"				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)			87	47					1.53041e-28	1.82192e-28	0.048971	1	0	T	115256530	G	T	115256530	3	4	6	1	0	0	0	0	1	0	0	0	10688	1386	48	5	400	5	NRAS	1	115256530	Missense_Mutation	SNP	G	TCGA-CS-5390-01A-02D-1468-08	36825685	115256530	133994091	6	218											
INO80B	83444	broad.mit.edu	37	2	74682279	74682279	+	Silent	SNP	G	G	A			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr2:74682279G>A	ENST00000233331.7	+	1	130	c.36G>A	c.(34-36)ggG>ggA	p.G12G	INO80B_ENST00000469849.1_3'UTR|INO80B_ENST00000409917.1_Silent_p.G12G	NM_031288.3	NP_112578.2	Q9C086	IN80B_HUMAN	INO80 complex subunit B	12					DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex|nucleolus	metal ion binding|protein binding			endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	13						GCACCTCTGGGGCTATGGAGG	0.572													34	115					0	0	0.069456	0	0	A	74682279	G	A	74682279	2	1	6	1	0	0	0	0	0	0	0	1	7791	1219	43	2		2	INO80B	2	74682279	Silent	SNP	G	TCGA-CS-5390-01A-02D-1468-08		74682279	168517094	7	219											
KCNH7	90134	broad.mit.edu	37	2	163693238	163693238	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr2:163693238C>T	ENST00000332142.5	-	2	215	c.116G>A	c.(115-117)tGt>tAt	p.C39Y	KCNH7_ENST00000328032.4_Missense_Mutation_p.C39Y	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	39					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	AATGATGGCACAGTTCTGCAC	0.423													18	60					0	0	0.038395	0	0	T	163693238	C	T	163693238	3	4	6	1	0	0	0	0	1	0	0	0	8081	478	17	2	3600	2	KCNH7	2	163693238	Missense_Mutation	SNP	C	TCGA-CS-5390-01A-02D-1468-08	89010959	163693238	79506135	8	220											
UBR3	130507	broad.mit.edu	37	2	170929938	170929940	+	Splice_Site	DEL	GAA	GAA	-			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr2:170929938_170929940delGAA	ENST00000272793.5	+	36	5070_5072	c.5020_5022delGAA	c.(5020-5022)gaadel	p.E1677del	UBR3_ENST00000418381.1_Splice_Site_p.E1677del|UBR3_ENST00000392631.1_Splice_Site_p.E498del			Q6ZT12	UBR3_HUMAN	ubiquitin protein ligase E3 component n-recognin 3 (putative)	1677					sensory perception of smell|suckling behavior|ubiquitin-dependent protein catabolic process	integral to membrane	ubiquitin-protein ligase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(3)|stomach(1)	33						TGTCTAAAAGGAAGAAGAAGAAT	0.379													8	206	---	---	---	---						-	170929940	GAA	-	170929938	8	5	6	1	0	1	0	1	0	0	1	0	16964	1188	41	0	5162	0	UBR3	2	170929938	Splice_Site	DEL	GAA	TCGA-CS-5390-01A-02D-1468-08	7236700	170929938	72269435	9	221											
MSTN	2660	broad.mit.edu	37	2	190927295	190927295	+	Missense_Mutation	SNP	T	T	G			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr2:190927295T>G	ENST00000260950.4	-	1	160	c.28A>C	c.(28-30)Att>Ctt	p.I10L	C2orf88_ENST00000478197.1_Intron	NM_005259.2	NP_005250.1	O14793	GDF8_HUMAN	myostatin	10					muscle organ development|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|skin(1)	12			OV - Ovarian serous cystadenocarcinoma(117;0.000742)|Epithelial(96;0.0121)|all cancers(119;0.0395)			AACAGGTAAATATAAACACAG	0.323													40	82					0	0	0.048971	0	0	G	190927295	T	G	190927295	3	3	6	1	0	0	0	0	1	0	0	0	9941	1406	49	4	1111	4	MSTN	2	190927295	Missense_Mutation	SNP	T	TCGA-CS-5390-01A-02D-1468-08	19997357	190927295	52272078	10	222											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								32	62					0	0	0.069456	0	0	T	209113112	C	T	209113112	3	4	6	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-CS-5390-01A-02D-1468-08	18185817	209113112	34086261	11	223											
ALPP	250	broad.mit.edu	37	2	233244328	233244328	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr2:233244328C>T	ENST00000392027.2	+	4	684	c.415C>T	c.(415-417)Cgc>Tgc	p.R139C		NM_001632.3	NP_001623.3	P05187	PPB1_HUMAN	alkaline phosphatase, placental	139						anchored to membrane|cell surface|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)		TGCAGCCGCCCGCTTTAACCA	0.607													3	31					0	0	0.004672	0	0	T	233244328	C	T	233244328	3	4	6	1	0	0	0	0	1	0	0	0	544	652	23	1	429	1	ALPP	2	233244328	Missense_Mutation	SNP	C	TCGA-CS-5390-01A-02D-1468-08	24131216	233244328	9955045	12	224											
ATP2B2	491	broad.mit.edu	37	3	10381974	10381974	+	Missense_Mutation	SNP	C	C	A			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr3:10381974C>A	ENST00000397077.1	-	20	3629	c.3054G>T	c.(3052-3054)caG>caT	p.Q1018H	ATP2B2_ENST00000360273.2_Missense_Mutation_p.Q1063H|ATP2B2_ENST00000343816.4_Missense_Mutation_p.Q1049H|ATP2B2_ENST00000352432.4_Missense_Mutation_p.Q1063H|ATP2B2_ENST00000383800.4_Missense_Mutation_p.Q1018H			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	1063					ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						ACCACATCCACTGGTCCAGCT	0.557													4	67					0.00024832	0.00027797	0.009096	1	0	A	10381974	C	A	10381974	3	1	6	1	0	0	0	0	1	0	0	0	1139	564	20	4	554	4	ATP2B2	3	10381974	Missense_Mutation	SNP	C	TCGA-CS-5390-01A-02D-1468-08		10381974	187640456	13	225											
APPL1	26060	broad.mit.edu	37	3	57302495	57302498	+	Frame_Shift_Del	DEL	AAAC	AAAC	-			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr3:57302495_57302498delAAAC	ENST00000288266.3	+	21	2110_2113	c.1963_1966delAAAC	c.(1963-1968)aaacaafs	p.KQ657fs	ASB14_ENST00000389601.3_3'UTR|ASB14_ENST00000487349.1_3'UTR	NM_012096.2	NP_036228.1	Q9UKG1	DP13A_HUMAN	adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1	657					apoptosis|cell cycle|cell proliferation|insulin receptor signaling pathway|regulation of apoptosis|regulation of establishment of protein localization in plasma membrane|regulation of glucose import	cytosol|early endosome membrane|microsome|nucleus|vesicle membrane	protein kinase B binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(10)|liver(2)|lung(4)|prostate(2)	27				KIRC - Kidney renal clear cell carcinoma(284;0.0124)|Kidney(284;0.0144)		agaactcaataaacaaaaacagat	0.314													18	42	---	---	---	---						-	57302498	AAAC	-	57302495	7	5	6	1	0	1	0	1	0	0	0	0	814	363	13	0	2045	0	APPL1	3	57302495	Frame_Shift_Del	DEL	AAAC	TCGA-CS-5390-01A-02D-1468-08	46920521	57302495	140719935	14	226											
SLC12A7	10723	broad.mit.edu	37	5	1075520	1075520	+	Missense_Mutation	SNP	C	C	A			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr5:1075520C>A	ENST00000264930.5	-	15	1976	c.1933G>T	c.(1933-1935)Gct>Tct	p.A645S		NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 7	645					potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	ATGCAGCCAGCGATGAGCATG	0.637													3	34					0.004672	0.00493521	0.004672	1	0	A	1075520	C	A	1075520	3	1	6	1	0	0	0	0	1	0	0	0	14443	768	27	5	1358	5	SLC12A7	5	1075520	Missense_Mutation	SNP	C	TCGA-CS-5390-01A-02D-1468-08		1075520	179839740	15	227											
DNAH5	1767	broad.mit.edu	37	5	13719099	13719099	+	Missense_Mutation	SNP	T	T	C			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr5:13719099T>C	ENST00000265104.4	-	72	12495	c.12391A>G	c.(12391-12393)Acc>Gcc	p.T4131A		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	4131	AAA 6 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GCCTCGGTGGTCATCCAGAGG	0.473									Kartagener syndrome				54	86					0	0	0.048971	0	0	C	13719099	T	C	13719099	3	2	6	1	0	0	0	0	1	0	0	0	4632	1667	58	3	1515	3	DNAH5	5	13719099	Missense_Mutation	SNP	T	TCGA-CS-5390-01A-02D-1468-08	12643579	13719099	167196161	16	228											
DNAH5	1767	broad.mit.edu	37	5	13841810	13841810	+	Silent	SNP	G	G	A			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr5:13841810G>A	ENST00000265104.4	-	33	5579	c.5475C>T	c.(5473-5475)ttC>ttT	p.F1825F		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1825	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CCTGAGCAGGGAAGGATGAAA	0.358									Kartagener syndrome				7	62					0	0	0.02938	0	0	A	13841810	G	A	13841810	2	1	6	1	0	0	0	0	0	0	0	1	4632	1165	41	2		2	DNAH5	5	13841810	Silent	SNP	G	TCGA-CS-5390-01A-02D-1468-08	122711	13841810	167073450	17	229											
GPR151	134391	broad.mit.edu	37	5	145895373	145895374	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr5:145895373_145895374delTT	ENST00000311104.2	-	1	379_380	c.303_304delAA	c.(301-306)aaaagtfs	p.S102fs		NM_194251.2	NP_919227.2	Q8TDV0	GP151_HUMAN	G protein-coupled receptor 151	102						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(2)	14			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCCCAAACACTTTTGGAGTACG	0.515													7	131	---	---	---	---						-	145895374	TT	-	145895373	7	5	6	1	0	1	0	1	0	0	0	0	6697	1609	56	0	959	0	GPR151	5	145895373	Frame_Shift_Del	DEL	TT	TCGA-CS-5390-01A-02D-1468-08	132053563	145895373	35019887	18	230											
FAM50B	26240	broad.mit.edu	37	6	3850199	3850199	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr6:3850199C>T	ENST00000380274.1	+	1	580	c.154C>T	c.(154-156)Cat>Tat	p.H52Y	FAM50B_ENST00000380272.3_Missense_Mutation_p.H52Y			Q9Y247	FA50B_HUMAN	family with sequence similarity 50, member B	52						nucleus				cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(3)|urinary_tract(3)	17	Ovarian(93;0.0925)	all_hematologic(90;0.108)				GTTCTCGGCGCATTACGACGC	0.647													11	19					0	0	0.09319	0	0	T	3850199	C	T	3850199	3	4	6	1	0	0	0	0	1	0	0	0	5614	710	25	2	156	2	FAM50B	6	3850199	Missense_Mutation	SNP	C	TCGA-CS-5390-01A-02D-1468-08		3850199	167264868	19	231											
NEU1	4758	broad.mit.edu	37	6	31830546	31830546	+	Missense_Mutation	SNP	C	C	A			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr6:31830546C>A	ENST00000375631.4	-	1	137	c.8G>T	c.(7-9)gGg>gTg	p.G3V		NM_000434.3	NP_000425.1	Q99519	NEUR1_HUMAN	sialidase 1 (lysosomal sialidase)	3						cytoplasmic membrane-bounded vesicle|lysosomal lumen|lysosomal membrane|plasma membrane	exo-alpha-sialidase activity|protein binding			kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	10					Oseltamivir(DB00198)|Zanamivir(DB00558)	GGGTCGCTCCCCAGTCATCTC	0.647													5	20					4.096e-09	4.8e-09	0.021553	1	0	A	31830546	C	A	31830546	3	1	6	1	0	0	0	0	1	0	0	0	10388	623	22	5	1263	5	NEU1	6	31830546	Missense_Mutation	SNP	C	TCGA-CS-5390-01A-02D-1468-08	27980347	31830546	139284521	20	232											
C2	717	broad.mit.edu	37	6	31913064	31913064	+	Missense_Mutation	SNP	T	T	G			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr6:31913064T>G	ENST00000299367.5	+	18	2465	c.2189T>G	c.(2188-2190)aTc>aGc	p.I730S	C2_ENST00000452323.2_Missense_Mutation_p.I516S|CFB_ENST00000556679.1_Intron|C2_ENST00000442278.2_Missense_Mutation_p.I598S|CFB_ENST00000456570.1_Intron|CFB_ENST00000477310.1_Intron|C2_ENST00000469372.1_Missense_Mutation_p.I484S|C2_ENST00000468407.1_Intron	NM_000063.4	NP_000054.2			complement component 2											haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	27		Ovarian(999;0.00965)		LUAD - Lung adenocarcinoma(999;0.247)		GACTTTCACATCAATCTCTTC	0.592													44	81					0	0	0.048971	0	0	G	31913064	T	G	31913064	3	3	6	1	0	0	0	0	1	0	0	0	2088	1435	50	4	2336	4	C2	6	31913064	Missense_Mutation	SNP	T	TCGA-CS-5390-01A-02D-1468-08	82518	31913064	139202003	21	233											
STK38	11329	broad.mit.edu	37	6	36489539	36489539	+	Missense_Mutation	SNP	C	C	A			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr6:36489539C>A	ENST00000229812.7	-	5	647	c.362G>T	c.(361-363)cGt>cTt	p.R121L		NM_007271.2	NP_009202.1	Q15208	STK38_HUMAN	serine/threonine kinase 38	121	Protein kinase.				intracellular protein kinase cascade|negative regulation of MAP kinase activity	cytoplasm|MLL5-L complex	ATP binding|magnesium ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine kinase activity	p.R121L(1)		NS(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						ATCTGCTTTACGGAGTATTTT	0.338													64	133					1.21705e-43	1.47224e-43	0.048971	1	0	A	36489539	C	A	36489539	3	1	6	1	0	0	0	0	1	0	0	0	15359	536	19	5	1075	5	STK38	6	36489539	Missense_Mutation	SNP	C	TCGA-CS-5390-01A-02D-1468-08	4576475	36489539	134625528	22	234											
DNAH8	1769	broad.mit.edu	37	6	38980113	38980113	+	Silent	SNP	G	G	A			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr6:38980113G>A	ENST00000359357.3	+	88	13097	c.12843G>A	c.(12841-12843)ttG>ttA	p.L4281L	DNAH8_ENST00000441566.1_Silent_p.L4245L					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						ATCTAAAATTGGCCATTGAAG	0.348													47	90					0	0	0.048971	0	0	A	38980113	G	A	38980113	2	1	6	1	0	0	0	0	0	0	0	1	4634	1339	47	2		2	DNAH8	6	38980113	Silent	SNP	G	TCGA-CS-5390-01A-02D-1468-08	2490574	38980113	132134954	23	235											
PHIP	55023	broad.mit.edu	37	6	79650981	79650981	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr6:79650981G>C	ENST00000275034.4	-	40	5062	c.4895C>G	c.(4894-4896)tCa>tGa	p.S1632*	PHIP_ENST00000479165.1_5'UTR	NM_017934.5	NP_060404	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	1632					insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis	nucleus	insulin receptor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		CACAAGTTTTGATGGCTGTCC	0.398													6	178					0	0	0.021553	0	0	C	79650981	G	C	79650981	4	2	6	1	0	0	0	0	0	1	0	0	11890	1294	45	5	574	5	PHIP	6	79650981	Nonsense_Mutation	SNP	G	TCGA-CS-5390-01A-02D-1468-08	40670868	79650981	91464086	24	236											
ATG5	9474	broad.mit.edu	37	6	106764041	106764041	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr6:106764041G>A	ENST00000369076.3	-	2	366	c.43C>T	c.(43-45)Cga>Tga	p.R15*	ATG5_ENST00000369070.1_De_novo_Start_OutOfFrame|ATG5_ENST00000343245.3_Nonsense_Mutation_p.R15*|ATG5_ENST00000360666.4_Nonsense_Mutation_p.R15*	NM_004849.2	NP_004840.1	Q9H1Y0	ATG5_HUMAN	autophagy related 5	15					apoptosis|autophagic vacuole assembly|negative regulation of type I interferon production|post-translational protein modification	autophagic vacuole|pre-autophagosomal structure membrane	protein binding	p.R15*(1)		endometrium(1)|large_intestine(5)|lung(1)|prostate(1)	8	Breast(9;0.0296)	all_cancers(87;0.000301)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.0612)|Lung NSC(302;0.216)	BRCA - Breast invasive adenocarcinoma(8;0.00802)	OV - Ovarian serous cystadenocarcinoma(136;0.128)|Epithelial(106;0.159)|all cancers(137;0.18)		GTTGGAATTCGTCCAAACCAC	0.378													73	141					0	0	0.048971	0	0	A	106764041	G	A	106764041	4	1	6	1	0	0	0	0	0	1	0	0	1099	1153	40	1	812	1	ATG5	6	106764041	Nonsense_Mutation	SNP	G	TCGA-CS-5390-01A-02D-1468-08	27113060	106764041	64351026	25	237											
RSPH4A	345895	broad.mit.edu	37	6	116938227	116938227	+	Silent	SNP	A	A	G			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr6:116938227A>G	ENST00000229554.5	+	1	578	c.441A>G	c.(439-441)ggA>ggG	p.G147G	RSPH4A_ENST00000368581.4_Silent_p.G147G|RSPH4A_ENST00000368580.4_Silent_p.G147G	NM_001010892.2	NP_001010892.1	Q5TD94	RSH4A_HUMAN	radial spoke head 4 homolog A (Chlamydomonas)	147					cilium axoneme assembly|cilium movement	cytoplasm|cytoskeleton|radial spoke				breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						AGTCAGAAGGAAACACCTTTC	0.458									Kartagener syndrome				45	68					0	0	0.048971	0	0	G	116938227	A	G	116938227	2	3	6	1	0	0	0	0	0	0	0	1	13758	233	9	3		3	RSPH4A	6	116938227	Silent	SNP	A	TCGA-CS-5390-01A-02D-1468-08	10174186	116938227	54176840	26	238											
ARID1B	57492	broad.mit.edu	37	6	157521872	157521872	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr6:157521872delC	ENST00000346085.5	+	18	4145	c.4144delC	c.(4144-4146)cccfs	p.P1383fs	ARID1B_ENST00000275248.4_Frame_Shift_Del_p.P1365fs|ARID1B_ENST00000367148.1_Frame_Shift_Del_p.P1423fs|ARID1B_ENST00000350026.5_Frame_Shift_Del_p.P1370fs	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1370					chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		CATGTACGGGCCCCCAGCCAA	0.507													22	164	---	---	---	---						-	157521872	C	-	157521872	7	5	6	1	0	1	0	1	0	0	0	0	911	739	26	0	4214	0	ARID1B	6	157521872	Frame_Shift_Del	DEL	C	TCGA-CS-5390-01A-02D-1468-08	40583645	157521872	13593195	27	239											
NPSR1	387129	broad.mit.edu	37	7	34889257	34889257	+	Missense_Mutation	SNP	A	A	G			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr7:34889257A>G	ENST00000360581.1	+	9	1234	c.1106A>G	c.(1105-1107)gAa>gGa	p.E369G	NPSR1_ENST00000531252.1_Intron|NPSR1_ENST00000359791.1_Intron|NPSR1_ENST00000381539.3_3'UTR|NPSR1_ENST00000381542.1_Missense_Mutation_p.E303G	NM_207172.1	NP_997055.1	Q6W5P4	NPSR1_HUMAN	neuropeptide S receptor 1	369						cytoplasm|integral to membrane|plasma membrane	vasopressin receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7)	31					Halothane(DB01159)	TCCAAGCCAGAATTCATCTAG	0.527													3	88					0	0	0.009096	0	0	G	34889257	A	G	34889257	3	3	6	1	0	0	0	0	1	0	0	0	10648	246	9	3	1140	3	NPSR1	7	34889257	Missense_Mutation	SNP	A	TCGA-CS-5390-01A-02D-1468-08		34889257	124249406	28	240											
CSMD3	114788	broad.mit.edu	37	8	113259317	113259319	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr8:113259317_113259319delAGA	ENST00000297405.5	-	64	10396_10398	c.10152_10154delTCT	c.(10150-10155)cttctc>ctc	p.3384_3385LL>L	CSMD3_ENST00000455883.2_In_Frame_Del_p.3215_3216LL>L|CSMD3_ENST00000343508.3_In_Frame_Del_p.3344_3345LL>L|CSMD3_ENST00000352409.3_In_Frame_Del_p.3314_3315LL>L	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3384	Sushi 27.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AGACCCTTGGAGAAGGTGTCCTT	0.399										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			9	66	---	---	---	---						-	113259319	AGA	-	113259317	7	5	6	1	0	1	0	1	0	0	0	0	3971	304	11	0	1001	0	CSMD3	8	113259317	In_Frame_Del	DEL	AGA	TCGA-CS-5390-01A-02D-1468-08		113259317	33104705	29	241											
FAM83A	84985	broad.mit.edu	37	8	124219482	124219482	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr8:124219482C>T	ENST00000518448.1	+	5	2873	c.859C>T	c.(859-861)Cgc>Tgc	p.R287C	FAM83A_ENST00000546351.1_Missense_Mutation_p.R231C|FAM83A_ENST00000276699.6_Missense_Mutation_p.R287C|FAM83A_ENST00000522648.1_Missense_Mutation_p.R231C|FAM83A_ENST00000536633.1_Missense_Mutation_p.R287C|FAM83A_ENST00000318462.6_Missense_Mutation_p.R287C			Q86UY5	FA83A_HUMAN	family with sequence similarity 83, member A	287										breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(2)|skin(1)	17	Lung NSC(37;1.55e-09)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)			CGAGGAGTTCCGCCACCTCTA	0.672													11	15					0	0	0.09319	0	0	T	124219482	C	T	124219482	3	4	6	1	0	0	0	0	1	0	0	0	5665	652	23	1	873	1	FAM83A	8	124219482	Missense_Mutation	SNP	C	TCGA-CS-5390-01A-02D-1468-08	10960165	124219482	22144540	30	242											
ZNF483	158399	broad.mit.edu	37	9	114304161	114304161	+	Missense_Mutation	SNP	G	G	A			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr9:114304161G>A	ENST00000309235.5	+	6	1104	c.946G>A	c.(946-948)Gac>Aac	p.D316N	ZNF483_ENST00000358151.4_Intron	NM_133464.2	NP_597721.2	Q8TF39	ZN483_HUMAN	zinc finger protein 483	316					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(11)|ovary(1)|skin(5)	31						AGAAACTTCAGACTTAATTAA	0.398													11	264					0	0	0.069234	0	0	A	114304161	G	A	114304161	3	1	6	1	0	0	0	0	1	0	0	0	17993	942	33	2	964	2	ZNF483	9	114304161	Missense_Mutation	SNP	G	TCGA-CS-5390-01A-02D-1468-08		114304161	26909270	31	243											
NOTCH1	4851	broad.mit.edu	37	9	139412203	139412203	+	Splice_Site	SNP	C	C	T			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr9:139412203C>T	ENST00000277541.6	-	8	1517		c.e8+1			NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1						aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GGCCGACGCACCGGGCATGCA	0.667			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			8	60					0	0	0.047766	0	0	T	139412203	C	T	139412203	5	4	6	1	0	0	0	0	0	0	1	0	10594	521	18	2	6333	2	NOTCH1	9	139412203	Splice_Site	SNP	C	TCGA-CS-5390-01A-02D-1468-08	25108042	139412203	1801228	32	244											
NOTCH1	4851	broad.mit.edu	37	9	139413129	139413131	+	In_Frame_Del	DEL	TCA	TCA	-			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr9:139413129_139413131delTCA	ENST00000277541.6	-	6	1086_1088	c.1011_1013delTGA	c.(1009-1014)gatgac>gac	p.337_338DD>D		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	337	EGF-like 9; calcium-binding (Potential).				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GCTGGCACAGTCATCAATGTTCT	0.631			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			13	28	---	---	---	---						-	139413131	TCA	-	139413129	7	5	6	1	0	1	0	1	0	0	0	0	10594	1667	58	0	6770	0	NOTCH1	9	139413129	In_Frame_Del	DEL	TCA	TCGA-CS-5390-01A-02D-1468-08	926	139413129	1800302	33	245											
HK1	3098	broad.mit.edu	37	10	71136809	71136809	+	Missense_Mutation	SNP	G	G	A			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr10:71136809G>A	ENST00000448642.2	+	13	1489	c.1100G>A	c.(1099-1101)gGg>gAg	p.G367E	HK1_ENST00000359426.6_Missense_Mutation_p.G332E|HK1_ENST00000494253.1_3'UTR|HK1_ENST00000404387.2_Missense_Mutation_p.G336E|HK1_ENST00000298649.3_Missense_Mutation_p.G331E|HK1_ENST00000360289.2_Missense_Mutation_p.G320E			P19367	HXK1_HUMAN	hexokinase 1	332	Regulatory.				glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane|nucleus	ATP binding|glucokinase activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(1)|urinary_tract(2)	35						CTCACCCGAGGGAAGTTTAAC	0.542													5	124					0	0	0.02938	0	0	A	71136809	G	A	71136809	3	1	6	1	0	0	0	0	1	0	0	0	7231	1232	43	2	1203	2	HK1	10	71136809	Missense_Mutation	SNP	G	TCGA-CS-5390-01A-02D-1468-08		71136809	64397938	34	246											
NPM3	10360	broad.mit.edu	37	10	103541522	103541522	+	Missense_Mutation	SNP	G	G	A			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr10:103541522G>A	ENST00000370110.5	-	5	530	c.508C>T	c.(508-510)Cct>Tct	p.P170S	NPM3_ENST00000474993.1_5'UTR	NM_006993.2	NP_008924.1	O75607	NPM3_HUMAN	nucleophosmin/nucleoplasmin 3	170							nucleic acid binding	p.P170S(1)		large_intestine(3)|lung(1)|skin(1)	5		Colorectal(252;0.122)		Epithelial(162;3.94e-09)|all cancers(201;2.13e-07)		TTTTTGGCAGGAAGGATGGGG	0.582											OREG0020469	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	367					0	0	0.02938	0	0	A	103541522	G	A	103541522	3	1	6	1	0	0	0	0	1	0	0	0	10637	1174	41	2	32	2	NPM3	10	103541522	Missense_Mutation	SNP	G	TCGA-CS-5390-01A-02D-1468-08	32404713	103541522	31993225	35	247											
OR1S1	219959	broad.mit.edu	37	11	57982676	57982676	+	Missense_Mutation	SNP	G	G	A	rs117920455	by1000genomes	TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr11:57982676G>A	ENST00000309433.6	+	1	460	c.460G>A	c.(460-462)Ggc>Agc	p.G154S		NM_001004458.1	NP_001004458.1	Q8NH92	OR1S1_HUMAN	olfactory receptor, family 1, subfamily S, member 1	154					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(24)|kidney(1)|large_intestine(1)|liver(1)|lung(10)|prostate(1)|skin(2)|stomach(3)|urinary_tract(3)	48		Breast(21;0.0589)				GCCCAGGTTCGGCATTTTGCT	0.463													6	280					0	0	0.02938	0	0	A	57982676	G	A	57982676	3	1	6	1	0	0	0	0	1	0	0	0	11020	1116	39	1	462	1	OR1S1	11	57982676	Missense_Mutation	SNP	G	TCGA-CS-5390-01A-02D-1468-08		57982676	77023840	36	248											
ACTN3	89	broad.mit.edu	37	11	66323638	66323638	+	RNA	SNP	G	G	A			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr11:66323638G>A	ENST00000513398.1	+	0	838				ACTN3_ENST00000502692.1_RNA	NM_001104.2	NP_001095.1	Q08043	ACTN3_HUMAN	actinin, alpha 3 (gene/pseudogene)						focal adhesion assembly|muscle filament sliding|regulation of apoptosis	actin filament|cytosol|focal adhesion|pseudopodium	actin binding|calcium ion binding|integrin binding|protein homodimerization activity|structural constituent of muscle			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)	10						CCCCAAAGCCGGATGAGAAGG	0.602													47	100					0	0	0.048971	0	0	A	66323638	G	A	66323638	1	1	6	0	1	0	0	0	0	0	0	0	206	1103	39	1		1	ACTN3	11	66323638	RNA	SNP	G	TCGA-CS-5390-01A-02D-1468-08	8340962	66323638	68682878	37	249											
AVPR1A	552	broad.mit.edu	37	12	63543713	63543713	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr12:63543713C>T	ENST00000299178.2	-	1	1009	c.904G>A	c.(904-906)Gtc>Atc	p.V302I		NM_000706.4	NP_000697.1	P37288	V1AR_HUMAN	arginine vasopressin receptor 1A	302					activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|generation of precursor metabolites and energy	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|prostate(2)|skin(1)	26			BRCA - Breast invasive adenocarcinoma(9;0.193)	GBM - Glioblastoma multiforme(28;0.0569)	Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Vasopressin(DB00067)	GCCCAGCAGACGATGTAAGCC	0.567													6	142					0	0	0.02938	0	0	T	63543713	C	T	63543713	3	4	6	1	0	0	0	0	1	0	0	0	1229	536	19	1	360	1	AVPR1A	12	63543713	Missense_Mutation	SNP	C	TCGA-CS-5390-01A-02D-1468-08		63543713	70308182	38	250											
XPO4	64328	broad.mit.edu	37	13	21381759	21381759	+	Missense_Mutation	SNP	C	C	G			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr13:21381759C>G	ENST00000400602.2	-	13	1689	c.1654G>C	c.(1654-1656)Gat>Cat	p.D552H	XPO4_ENST00000255305.6_Missense_Mutation_p.D552H	NM_022459.4	NP_071904.4	Q9C0E2	XPO4_HUMAN	exportin 4	552					protein transport	cytoplasm|nucleus	protein binding			breast(1)|endometrium(10)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	41		all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548)		TGAGTATCATCAGCTAAGAGG	0.289													5	118					0	0	0.021553	0	0	G	21381759	C	G	21381759	3	3	6	1	0	0	0	0	1	0	0	0	17506	826	29	5	1845	5	XPO4	13	21381759	Missense_Mutation	SNP	C	TCGA-CS-5390-01A-02D-1468-08		21381759	93788119	39	251											
CSNK1A1L	122011	broad.mit.edu	37	13	37678952	37678952	+	Missense_Mutation	SNP	G	G	A			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr13:37678952G>A	ENST00000379800.3	-	1	851	c.442C>T	c.(442-444)Cgt>Tgt	p.R148C		NM_145203.5	NP_660204.2	Q8N752	KC1AL_HUMAN	casein kinase 1, alpha 1-like	148	Protein kinase.				Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	37		Lung NSC(96;7.97e-05)|Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.109)		all cancers(112;3.58e-07)|Epithelial(112;1.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00695)|BRCA - Breast invasive adenocarcinoma(63;0.0117)|GBM - Glioblastoma multiforme(144;0.0407)		TTACAGTGACGCCCAGTACCC	0.408													35	143					0	0	0.069456	0	0	A	37678952	G	A	37678952	3	1	6	1	0	0	0	0	1	0	0	0	3976	1087	38	1	575	1	CSNK1A1L	13	37678952	Missense_Mutation	SNP	G	TCGA-CS-5390-01A-02D-1468-08	16297193	37678952	77490926	40	252											
UGGT2	55757	broad.mit.edu	37	13	96489363	96489363	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr13:96489363G>A	ENST00000376747.3	-	37	4448	c.4378C>T	c.(4378-4380)Caa>Taa	p.Q1460*		NM_020121.3	NP_064506.3	Q9NYU1	UGGG2_HUMAN	UDP-glucose glycoprotein glucosyltransferase 2	1460	Glucosyltransferase.				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2)	60						TTGGCTCTTTGTTTGGATTCA	0.358													21	46					0	0	0.069288	0	0	A	96489363	G	A	96489363	4	1	6	1	0	0	0	0	0	1	0	0	17002	1386	48	2	184	2	UGGT2	13	96489363	Nonsense_Mutation	SNP	G	TCGA-CS-5390-01A-02D-1468-08	58810411	96489363	18680515	41	253											
GPHN	10243	broad.mit.edu	37	14	67576892	67576892	+	Silent	SNP	G	G	A			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr14:67576892G>A	ENST00000478722.1	+	14	2450	c.1329G>A	c.(1327-1329)cgG>cgA	p.R443R	GPHN_ENST00000543237.1_Silent_p.R456R|GPHN_ENST00000315266.5_Silent_p.R410R|GPHN_ENST00000544752.2_3'UTR|GPHN_ENST00000305960.9_Silent_p.R379R	NM_020806.4	NP_065857.1	Q9NQX3	GEPH_HUMAN	gephyrin	410	MPT adenylyltransferase.				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cell junction|cytoplasm|cytoskeleton|postsynaptic membrane	ATP binding|metal ion binding|nucleotidyltransferase activity			large_intestine(8)|liver(1)|ovary(2)|stomach(1)	12		all_cancers(7;0.0476)|all_hematologic(31;0.0116)		Epithelial(1;1.73e-08)|all cancers(60;3.15e-07)|OV - Ovarian serous cystadenocarcinoma(108;0.000275)|BRCA - Breast invasive adenocarcinoma(234;0.00323)|Colorectal(3;0.0938)|KIRC - Kidney renal clear cell carcinoma(182;0.184)		AAGTCATGCGGGTTACAACAG	0.458			T	MLL	AL								6	189					0	0	0.02938	0	0	A	67576892	G	A	67576892	2	1	6	1	0	0	0	0	0	0	0	1	6650	1219	43	2		2	GPHN	14	67576892	Silent	SNP	G	TCGA-CS-5390-01A-02D-1468-08		67576892	39772648	42	254											
TTLL5	23093	broad.mit.edu	37	14	76349031	76349031	+	Missense_Mutation	SNP	A	A	G			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr14:76349031A>G	ENST00000298832.9	+	30	3731	c.3526A>G	c.(3526-3528)Atc>Gtc	p.I1176V	TTLL5_ENST00000556893.1_Missense_Mutation_p.I727V|TTLL5_ENST00000557636.1_Missense_Mutation_p.I1191V|TTLL5_ENST00000554510.1_Missense_Mutation_p.I685V	NM_015072.4	NP_055887.3	Q6EMB2	TTLL5_HUMAN	tubulin tyrosine ligase-like family, member 5	1176					protein modification process|transcription, DNA-dependent	centrosome|cilium|microtubule basal body|nucleus	tubulin-tyrosine ligase activity			NS(2)|breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(3)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	50				BRCA - Breast invasive adenocarcinoma(234;0.029)		TTTGTAGGCAATCTTTGGCAG	0.413													40	37					0	0	0.048971	0	0	G	76349031	A	G	76349031	3	3	6	1	0	0	0	0	1	0	0	0	16792	101	4	3	3640	3	TTLL5	14	76349031	Missense_Mutation	SNP	A	TCGA-CS-5390-01A-02D-1468-08	8772139	76349031	31000509	43	255											
PCSK6	5046	broad.mit.edu	37	15	101929754	101929754	+	Missense_Mutation	SNP	G	G	A			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr15:101929754G>A	ENST00000348070.1	-	10	1221	c.1222C>T	c.(1222-1224)Cgt>Tgt	p.R408C	PCSK6_ENST00000561177.1_5'UTR|PCSK6_ENST00000344273.2_Missense_Mutation_p.R408C|PCSK6_ENST00000331826.7_Missense_Mutation_p.R243C|PCSK6_ENST00000358417.3_Missense_Mutation_p.R408C|PCSK6_ENST00000398181.2_Missense_Mutation_p.R408C	NM_002570.3|NM_138320.1	NP_002561.1|NP_612193.1	P29122	PCSK6_HUMAN	proprotein convertase subtilisin/kexin type 6	409	Catalytic.				glycoprotein metabolic process|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|regulation of BMP signaling pathway|secretion by cell	cell surface|endomembrane system|endoplasmic reticulum|extracellular matrix|extracellular space|Golgi lumen|membrane|soluble fraction	eukaryotic cell surface binding|heparin binding|nerve growth factor binding|serine-type endopeptidase activity			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CAGCGCTGACGCAGATCCGTG	0.582													38	57					0	0	0.11126	0	0	A	101929754	G	A	101929754	3	1	6	1	0	0	0	0	1	0	0	0	11651	1087	38	1	2219	1	PCSK6	15	101929754	Missense_Mutation	SNP	G	TCGA-CS-5390-01A-02D-1468-08		101929754	601638	44	256											
IKZF3	22806	broad.mit.edu	37	17	37985663	37985663	+	Missense_Mutation	SNP	G	G	A			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr17:37985663G>A	ENST00000346872.3	-	3	201	c.140C>T	c.(139-141)gCc>gTc	p.A47V	IKZF3_ENST00000346243.3_Missense_Mutation_p.A47V|IKZF3_ENST00000377944.3_Missense_Mutation_p.A47V|IKZF3_ENST00000377945.3_Missense_Mutation_p.A47V|IKZF3_ENST00000394189.2_Missense_Mutation_p.A47V|IKZF3_ENST00000535189.1_Intron|IKZF3_ENST00000377958.2_Missense_Mutation_p.A47V|IKZF3_ENST00000350532.3_Missense_Mutation_p.A47V|IKZF3_ENST00000467757.1_Missense_Mutation_p.A47V|IKZF3_ENST00000377952.2_Missense_Mutation_p.A47V|IKZF3_ENST00000351680.3_Missense_Mutation_p.A47V|IKZF3_ENST00000439167.2_Intron|IKZF3_ENST00000439016.2_Missense_Mutation_p.A47V	NM_012481.4	NP_036613.2	Q9UKT9	IKZF3_HUMAN	IKAROS family zinc finger 3 (Aiolos)	47					B cell activation|mesoderm development|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(6)|large_intestine(4)|liver(1)|lung(13)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42	Breast(7;4.5e-103)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			ATCTTCATTGGCTGGGCCTTC	0.403													5	89					0	0	0.014758	0	0	A	37985663	G	A	37985663	3	1	6	1	0	0	0	0	1	0	0	0	7660	1203	42	2	1413	2	IKZF3	17	37985663	Missense_Mutation	SNP	G	TCGA-CS-5390-01A-02D-1468-08		37985663	43209547	45	257											
KRT9	3857	broad.mit.edu	37	17	39725736	39725736	+	Missense_Mutation	SNP	T	T	A			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr17:39725736T>A	ENST00000246662.4	-	4	1051	c.986A>T	c.(985-987)gAg>gTg	p.E329V	KRT9_ENST00000588431.1_Missense_Mutation_p.E96V	NM_000226.3	NP_000217.2	P35527	K1C9_HUMAN	keratin 9	329	Coil 2.|Rod.				intermediate filament organization|skin development		protein binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Breast(137;0.000307)				CTGCTCATACTCCTGACGCAT	0.498													30	46					0	0	0.045705	0	0	A	39725736	T	A	39725736	3	1	6	1	0	0	0	0	1	0	0	0	8544	1551	54	5	901	5	KRT9	17	39725736	Missense_Mutation	SNP	T	TCGA-CS-5390-01A-02D-1468-08	1740073	39725736	41469474	46	258											
CDH19	28513	broad.mit.edu	37	18	64218460	64218460	+	Missense_Mutation	SNP	G	G	T			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr18:64218460G>T	ENST00000262150.2	-	5	938	c.646C>A	c.(646-648)Ctg>Atg	p.L216M	CDH19_ENST00000540086.1_Missense_Mutation_p.L216M	NM_021153.3	NP_066976.1	Q9H159	CAD19_HUMAN	cadherin 19, type 2	216	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61		Esophageal squamous(42;0.0132)				TCATCTTGCAGTTCTCTATCC	0.308													7	162					0.00307968	0.00334748	0.038147	1	0	T	64218460	G	T	64218460	3	4	6	1	0	0	0	0	1	0	0	0	3126	1020	36	4	1704	4	CDH19	18	64218460	Missense_Mutation	SNP	G	TCGA-CS-5390-01A-02D-1468-08		64218460	13858788	47	259											
ANGPT4	51378	broad.mit.edu	37	20	861878	861878	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr20:861878C>T	ENST00000381922.3	-	5	989	c.887G>A	c.(886-888)cGc>cAc	p.R296H	ANGPT4_ENST00000546022.1_Missense_Mutation_p.R296H	NM_015985.2	NP_057069.1	Q9Y264	ANGP4_HUMAN	angiopoietin 4	296	Fibrinogen C-terminal.				anti-apoptosis|blood coagulation|cellular response to hypoxia|leukocyte migration|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|signal transduction	extracellular space	receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	27						GGCCCCAGAGCGCTGGATCTC	0.562													11	40					0	0	0.09319	0	0	T	861878	C	T	861878	3	4	6	1	0	0	0	0	1	0	0	0	608	768	27	1	644	1	ANGPT4	20	861878	Missense_Mutation	SNP	C	TCGA-CS-5390-01A-02D-1468-08		861878	62163642	48	260											
POTEH	23784	broad.mit.edu	37	22	16287514	16287514	+	Silent	SNP	G	G	A			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr22:16287514G>A	ENST00000343518.6	-	1	423	c.372C>T	c.(370-372)gaC>gaT	p.D124D		NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H	124										NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						TAGCAGAGTCGTCGTGGTCTC	0.607													40	363					0	0	0.048971	0	0	A	16287514	G	A	16287514	2	1	6	1	0	0	0	0	0	0	0	1	12314	1136	40	1		1	POTEH	22	16287514	Silent	SNP	G	TCGA-CS-5390-01A-02D-1468-08		16287514	35017052	49	261											
BEND2	139105	broad.mit.edu	37	X	18221653	18221653	+	Missense_Mutation	SNP	G	G	T			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chrX:18221653G>T	ENST00000380033.4	-	5	1007	c.875C>A	c.(874-876)gCc>gAc	p.A292D	BEND2_ENST00000380030.3_Missense_Mutation_p.A292D	NM_153346.4	NP_699177.2	Q8NDZ0	BEND2_HUMAN	BEN domain containing 2	292										NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1)	49						AGATGACAAGGCTCTACCTGG	0.418													13	210					7.03913e-09	8.12207e-09	0.09319	1	0	T	18221653	G	T	18221653	3	4	6	1	0	0	0	0	1	0	0	0	1396	1203	42	5	1590	5	BEND2	23	18221653	Missense_Mutation	SNP	G	TCGA-CS-5390-01A-02D-1468-08		18221653	137048907	50	262											
TAF9B	51616	broad.mit.edu	37	X	77394339	77394339	+	Splice_Site	SNP	C	C	T			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chrX:77394339C>T	ENST00000341864.5	-	2	228		c.e2+1			NM_015975.4	NP_057059.2	Q9HBM6	TAF9B_HUMAN	TAF9B RNA polymerase II, TATA box binding protein (TBP)-associated factor, 31kDa						negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cell growth|transcription initiation, DNA-dependent	transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	14						CATTAACTTACGGAAAGCAAA	0.328													44	72					0	0	0.042209	0	0	T	77394339	C	T	77394339	5	4	6	1	0	0	0	0	0	0	1	0	15593	550	19	1	645	1	TAF9B	23	77394339	Splice_Site	SNP	C	TCGA-CS-5390-01A-02D-1468-08	59172686	77394339	77876221	51	263											
SATL1	340562	broad.mit.edu	37	X	84363189	84363189	+	Silent	SNP	G	G	A			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chrX:84363189G>A	ENST00000509231.1	-	1	865	c.786C>T	c.(784-786)atC>atT	p.I262I	SATL1_ENST00000395409.3_Silent_p.I75I|SATL1_ENST00000332921.5_Silent_p.I75I			Q86VE3	SATL1_HUMAN	spermidine/spermine N1-acetyl transferase-like 1	75	Gln-rich.						N-acetyltransferase activity			NS(1)|breast(5)|endometrium(2)|large_intestine(3)|lung(13)|skin(3)|stomach(1)|urinary_tract(1)	29						GGCTTGGCTGGATTATACCTG	0.433													7	335					0	0	0.038147	0	0	A	84363189	G	A	84363189	2	1	6	1	0	0	0	0	0	0	0	1	13908	1164	41	2		2	SATL1	23	84363189	Silent	SNP	G	TCGA-CS-5390-01A-02D-1468-08	6968850	84363189	70907371	52	264											
ARMCX1	51309	broad.mit.edu	37	X	100808652	100808652	+	Missense_Mutation	SNP	G	G	A			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chrX:100808652G>A	ENST00000372829.3	+	4	1110	c.739G>A	c.(739-741)Ggt>Agt	p.G247S		NM_016608.1	NP_057692.1	Q9P291	ARMX1_HUMAN	armadillo repeat containing, X-linked 1	247						integral to membrane	binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(2)|ovary(3)|pancreas(1)|urinary_tract(1)	19						ACGTGAATTGGGTGGTGTCCC	0.388													106	198					0	0	0.048971	0	0	A	100808652	G	A	100808652	3	1	6	1	0	0	0	0	1	0	0	0	958	1232	43	2	741	2	ARMCX1	23	100808652	Missense_Mutation	SNP	G	TCGA-CS-5390-01A-02D-1468-08	16445463	100808652	54461908	53	265											
GDAP2	54834	broad.mit.edu	37	1	118441728	118441728	+	Silent	SNP	C	C	A			TCGA-CS-5393-01A-01D-1468-08	TCGA-CS-5393-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc229a3-8c45-4736-9cff-6495193c3c55	53327aaf-fa9c-44ed-8c21-1c557f76186e	g.chr1:118441728C>A	ENST00000369443.5	-	7	996	c.747G>T	c.(745-747)gtG>gtT	p.V249V	GDAP2_ENST00000369442.3_Silent_p.V249V|GDAP2_ENST00000464026.1_5'UTR	NM_017686.3	NP_060156.1	Q9NXN4	GDAP2_HUMAN	ganglioside induced differentiation associated protein 2											kidney(2)|large_intestine(3)|lung(9)|ovary(2)	16		all_cancers(81;0.0156)|all_lung(203;5.81e-05)|Lung NSC(69;0.000446)|all_epithelial(167;0.00295)		Lung(183;0.0583)|LUSC - Lung squamous cell carcinoma(189;0.194)		GTTCAGGTACCACAGGCTCCC	0.438													61	128					5.39075e-54	7.18766e-54	0.048971	1	0	A	118441728	C	A	118441728	2	1	7	1	0	0	0	0	0	0	0	1	6350	581	21	5		5	GDAP2	1	118441728	Silent	SNP	C	TCGA-CS-5393-01A-01D-1468-08		118441728	130808893	1	266											
OR2W3	343171	broad.mit.edu	37	1	248059264	248059264	+	Missense_Mutation	SNP	A	A	G			TCGA-CS-5393-01A-01D-1468-08	TCGA-CS-5393-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc229a3-8c45-4736-9cff-6495193c3c55	53327aaf-fa9c-44ed-8c21-1c557f76186e	g.chr1:248059264A>G	ENST00000537741.1	+	3	633	c.376A>G	c.(376-378)Atc>Gtc	p.I126V	OR2W3_ENST00000360358.3_Missense_Mutation_p.I126V			Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W, member 3	126					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GTGTGTGGCTATCTGCAAGCC	0.607													20	61					0	0	0.055883	0	0	G	248059264	A	G	248059264	3	3	7	1	0	0	0	0	1	0	0	0	11081	449	16	3	378	3	OR2W3	1	248059264	Missense_Mutation	SNP	A	TCGA-CS-5393-01A-01D-1468-08	129617536	248059264	1191357	2	267											
SPTBN1	6711	broad.mit.edu	37	2	54880943	54880943	+	Silent	SNP	C	C	G			TCGA-CS-5393-01A-01D-1468-08	TCGA-CS-5393-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc229a3-8c45-4736-9cff-6495193c3c55	53327aaf-fa9c-44ed-8c21-1c557f76186e	g.chr2:54880943C>G	ENST00000333896.5	+	26	6121	c.5736C>G	c.(5734-5736)ctC>ctG	p.L1912L	SPTBN1_ENST00000356805.4_Silent_p.L1925L	NM_178313.2	NP_842565.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	1925	Interaction with ANK2.				actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			ACCTCATGCTCTGGATGGAGG	0.577													14	22					0	0	0.105934	0	0	G	54880943	C	G	54880943	2	3	7	1	0	0	0	0	0	0	0	1	15175	900	32	4		4	SPTBN1	2	54880943	Silent	SNP	C	TCGA-CS-5393-01A-01D-1468-08		54880943	188318430	3	268											
NEB	4703	broad.mit.edu	37	2	152474871	152474871	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-5393-01A-01D-1468-08	TCGA-CS-5393-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc229a3-8c45-4736-9cff-6495193c3c55	53327aaf-fa9c-44ed-8c21-1c557f76186e	g.chr2:152474871C>T	ENST00000397345.3	-	74	11196	c.10994G>A	c.(10993-10995)cGt>cAt	p.R3665H	NEB_ENST00000172853.10_Missense_Mutation_p.R3422H|NEB_ENST00000604864.1_Missense_Mutation_p.R3665H|NEB_ENST00000427231.2_Missense_Mutation_p.R3665H|NEB_ENST00000409198.1_Missense_Mutation_p.R3422H|NEB_ENST00000603639.1_Missense_Mutation_p.R3665H	NM_001164508.1	NP_001157980	P20929	NEBU_HUMAN	nebulin	3665					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CGTTTCTGGACGCTGACGGTA	0.443													54	210					0	0	0.048971	0	0	T	152474871	C	T	152474871	3	4	7	1	0	0	0	0	1	0	0	0	10349	536	19	1	15128	1	NEB	2	152474871	Missense_Mutation	SNP	C	TCGA-CS-5393-01A-01D-1468-08	97593928	152474871	90724502	4	269											
UBR3	130507	broad.mit.edu	37	2	170917865	170917865	+	Missense_Mutation	SNP	A	A	G			TCGA-CS-5393-01A-01D-1468-08	TCGA-CS-5393-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc229a3-8c45-4736-9cff-6495193c3c55	53327aaf-fa9c-44ed-8c21-1c557f76186e	g.chr2:170917865A>G	ENST00000272793.5	+	35	4981	c.4931A>G	c.(4930-4932)aAa>aGa	p.K1644R	UBR3_ENST00000392631.1_Missense_Mutation_p.K465R|UBR3_ENST00000418381.1_Missense_Mutation_p.K1644R			Q6ZT12	UBR3_HUMAN	ubiquitin protein ligase E3 component n-recognin 3 (putative)	1644					sensory perception of smell|suckling behavior|ubiquitin-dependent protein catabolic process	integral to membrane	ubiquitin-protein ligase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(3)|stomach(1)	33						TCCATGGAAAAATGCTTACAG	0.363													109	176					0	0	0.048971	0	0	G	170917865	A	G	170917865	3	3	7	1	0	0	0	0	1	0	0	0	16964	14	1	3	5069	3	UBR3	2	170917865	Missense_Mutation	SNP	A	TCGA-CS-5393-01A-01D-1468-08	18442994	170917865	72281508	5	270											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-CS-5393-01A-01D-1468-08	TCGA-CS-5393-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc229a3-8c45-4736-9cff-6495193c3c55	53327aaf-fa9c-44ed-8c21-1c557f76186e	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	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								31	68					0	0	0.050027	0	0	T	209113112	C	T	209113112	3	4	7	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-CS-5393-01A-01D-1468-08	38195247	209113112	34086261	6	271											
DCLK3	85443	broad.mit.edu	37	3	36779426	36779426	+	Missense_Mutation	SNP	G	G	T			TCGA-CS-5393-01A-01D-1468-08	TCGA-CS-5393-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc229a3-8c45-4736-9cff-6495193c3c55	53327aaf-fa9c-44ed-8c21-1c557f76186e	g.chr3:36779426G>T	ENST00000416516.2	-	2	1215	c.725C>A	c.(724-726)gCc>gAc	p.A242D		NM_033403.1	NP_208382.1	Q9C098	DCLK3_HUMAN	doublecortin-like kinase 3	242						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	48						GTCCTTCTTGGCCTTGGCTGC	0.562													6	139					2.7689e-08	3.44574e-08	0.02938	1	0	T	36779426	G	T	36779426	3	4	7	1	0	0	0	0	1	0	0	0	4316	1203	42	5	1237	5	DCLK3	3	36779426	Missense_Mutation	SNP	G	TCGA-CS-5393-01A-01D-1468-08		36779426	161243004	7	272											
BCL6	604	broad.mit.edu	37	3	187449545	187449545	+	Missense_Mutation	SNP	A	A	G			TCGA-CS-5393-01A-01D-1468-08	TCGA-CS-5393-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc229a3-8c45-4736-9cff-6495193c3c55	53327aaf-fa9c-44ed-8c21-1c557f76186e	g.chr3:187449545A>G	ENST00000406870.2	-	4	701	c.335T>C	c.(334-336)cTg>cCg	p.L112P	RP11-211G3.3_ENST00000449623.1_Intron|RP11-211G3.3_ENST00000437407.1_Intron|BCL6_ENST00000232014.4_Missense_Mutation_p.L112P|BCL6_ENST00000450123.2_Missense_Mutation_p.L112P	NM_001706.4	NP_001697.2	P41182	BCL6_HUMAN	B-cell CLL/lymphoma 6	112					negative regulation of B cell apoptosis|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|protein import into nucleus, translocation|regulation of germinal center formation|response to DNA damage stimulus	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(9)|lung(10)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	40	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)		CTCCATCTGCAGGTACATAGC	0.537			"T, Mis"	"IG loci, ZNFN1A1, LCP1, PIM1, TFRC, CIITA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R,  POU2AF1, ARHH, EIF4A2, SFRS3"	"NHL, CLL"								20	51					0	0	0.062417	0	0	G	187449545	A	G	187449545	3	3	7	1	0	0	0	0	1	0	0	0	1374	188	7	3	1813	3	BCL6	3	187449545	Missense_Mutation	SNP	A	TCGA-CS-5393-01A-01D-1468-08	150670119	187449545	10572885	8	273											
WDFY3	23001	broad.mit.edu	37	4	85600267	85600267	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-5393-01A-01D-1468-08	TCGA-CS-5393-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc229a3-8c45-4736-9cff-6495193c3c55	53327aaf-fa9c-44ed-8c21-1c557f76186e	g.chr4:85600267C>T	ENST00000322366.6	-	64	10308	c.9901G>A	c.(9901-9903)Gca>Aca	p.A3301T	WDFY3_ENST00000295888.4_Missense_Mutation_p.A3318T			Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	3318						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		GCGGCTGTTGCGCGGCAGGAG	0.582													26	35					0	0	0.0918	0	0	T	85600267	C	T	85600267	3	4	7	1	0	0	0	0	1	0	0	0	17330	768	27	1	644	1	WDFY3	4	85600267	Missense_Mutation	SNP	C	TCGA-CS-5393-01A-01D-1468-08		85600267	105554009	9	274											
RAPGEF2	9693	broad.mit.edu	37	4	160277114	160277114	+	Silent	SNP	G	G	A			TCGA-CS-5393-01A-01D-1468-08	TCGA-CS-5393-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc229a3-8c45-4736-9cff-6495193c3c55	53327aaf-fa9c-44ed-8c21-1c557f76186e	g.chr4:160277114G>A	ENST00000264431.4	+	23	4697	c.4278G>A	c.(4276-4278)ccG>ccA	p.P1426P		NM_014247.2	NP_055062.1	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor (GEF) 2	1426					cAMP-mediated signaling|MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		GGAAACCGCCGGACTACAACG	0.612													10	19					0	0	0.069234	0	0	A	160277114	G	A	160277114	2	1	7	1	0	0	0	0	0	0	0	1	13096	1103	39	1		1	RAPGEF2	4	160277114	Silent	SNP	G	TCGA-CS-5393-01A-01D-1468-08	74676847	160277114	30877162	10	275											
PRDM9	56979	broad.mit.edu	37	5	23526956	23526956	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-5393-01A-01D-1468-08	TCGA-CS-5393-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc229a3-8c45-4736-9cff-6495193c3c55	53327aaf-fa9c-44ed-8c21-1c557f76186e	g.chr5:23526956C>T	ENST00000296682.3	+	11	1941	c.1759C>T	c.(1759-1761)Cgg>Tgg	p.R587W		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	587					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	p.R587R(1)|p.R587W(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						GGAGTGTGGGCGGGGCTTTAG	0.607										HNSCC(3;0.000094)			34	62					0	0	0.048971	0	0	T	23526956	C	T	23526956	3	4	7	1	0	0	0	0	1	0	0	0	12515	759	27	1	1797	1	PRDM9	5	23526956	Missense_Mutation	SNP	C	TCGA-CS-5393-01A-01D-1468-08		23526956	157388304	11	276											
PDZD2	23037	broad.mit.edu	37	5	32089685	32089685	+	Missense_Mutation	SNP	G	G	A			TCGA-CS-5393-01A-01D-1468-08	TCGA-CS-5393-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc229a3-8c45-4736-9cff-6495193c3c55	53327aaf-fa9c-44ed-8c21-1c557f76186e	g.chr5:32089685G>A	ENST00000438447.1	+	20	6519	c.6131G>A	c.(6130-6132)gGc>gAc	p.G2044D	PDZD2_ENST00000282493.3_Missense_Mutation_p.G2044D			O15018	PDZD2_HUMAN	PDZ domain containing 2	2044					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						TCTAGGAACGGCATGTCCGTG	0.642													4	149					0	0	0.009096	0	0	A	32089685	G	A	32089685	3	1	7	1	0	0	0	0	1	0	0	0	11748	1203	42	2	6205	2	PDZD2	5	32089685	Missense_Mutation	SNP	G	TCGA-CS-5393-01A-01D-1468-08	8562729	32089685	148825575	12	277											
TNXB	7148	broad.mit.edu	37	6	32039776	32039776	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-5393-01A-01D-1468-08	TCGA-CS-5393-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc229a3-8c45-4736-9cff-6495193c3c55	53327aaf-fa9c-44ed-8c21-1c557f76186e	g.chr6:32039776C>T	ENST00000375244.3	-	13	5182	c.4981G>A	c.(4981-4983)Gca>Aca	p.A1661T	TNXB_ENST00000375247.2_Missense_Mutation_p.A1661T			P22105	TENX_HUMAN	tenascin XB	1743	Fibronectin type-III 9.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CCCGTCTTTGCCTCCACAGAG	0.592													10	12					0	0	0.09319	0	0	T	32039776	C	T	32039776	3	4	7	1	0	0	0	0	1	0	0	0	16406	739	26	2	9860	2	TNXB	6	32039776	Missense_Mutation	SNP	C	TCGA-CS-5393-01A-01D-1468-08		32039776	139075291	13	278											
CLVS2	134829	broad.mit.edu	37	6	123332253	123332253	+	Silent	SNP	A	A	G			TCGA-CS-5393-01A-01D-1468-08	TCGA-CS-5393-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc229a3-8c45-4736-9cff-6495193c3c55	53327aaf-fa9c-44ed-8c21-1c557f76186e	g.chr6:123332253A>G	ENST00000275162.5	+	3	1848	c.513A>G	c.(511-513)caA>caG	p.Q171Q	CLVS2_ENST00000368438.1_Silent_p.Q25Q	NM_001010852.3	NP_001010852.2	Q5SYC1	CLVS2_HUMAN	clavesin 2		CRAL-TRIO.				lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity	p.Q171H(2)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	40						CTTTCAAGCAAGCCTCTAAAC	0.413													4	86					0	0	0.009096	0	0	G	123332253	A	G	123332253	2	3	7	1	0	0	0	0	0	0	0	1	3595	69	3	3		3	CLVS2	6	123332253	Silent	SNP	A	TCGA-CS-5393-01A-01D-1468-08	91292477	123332253	47782814	14	279											
PLEKHA8	84725	broad.mit.edu	37	7	30092391	30092391	+	Silent	SNP	C	C	T			TCGA-CS-5393-01A-01D-1468-08	TCGA-CS-5393-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc229a3-8c45-4736-9cff-6495193c3c55	53327aaf-fa9c-44ed-8c21-1c557f76186e	g.chr7:30092391C>T	ENST00000449726.1	+	7	1055	c.705C>T	c.(703-705)atC>atT	p.I235I	PLEKHA8_ENST00000396259.1_Silent_p.I235I|PLEKHA8_ENST00000258679.7_Silent_p.I235I|PLEKHA8_ENST00000396257.2_Silent_p.I235I	NM_001197027.1	NP_001183956.1	Q96JA3	PKHA8_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 8	235					protein transport	cytoplasm	glycolipid binding|glycolipid transporter activity			breast(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)	17						AGGAAGAAATCCTAATGAAAA	0.308													21	106					0	0	0.055883	0	0	T	30092391	C	T	30092391	2	4	7	1	0	0	0	0	0	0	0	1	12110	845	30	2		2	PLEKHA8	7	30092391	Silent	SNP	C	TCGA-CS-5393-01A-01D-1468-08		30092391	129046272	15	280											
ZMIZ2	83637	broad.mit.edu	37	7	44805131	44805131	+	Missense_Mutation	SNP	C	C	A			TCGA-CS-5393-01A-01D-1468-08	TCGA-CS-5393-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc229a3-8c45-4736-9cff-6495193c3c55	53327aaf-fa9c-44ed-8c21-1c557f76186e	g.chr7:44805131C>A	ENST00000309315.4	+	16	2318	c.2195C>A	c.(2194-2196)cCc>cAc	p.P732H	ZMIZ2_ENST00000265346.7_Missense_Mutation_p.P706H|ZMIZ2_ENST00000413916.1_Missense_Mutation_p.P674H|ZMIZ2_ENST00000441627.1_Missense_Mutation_p.P732H|ZMIZ2_ENST00000433667.1_Missense_Mutation_p.P700H	NM_031449.3	NP_113637.3	Q8NF64	ZMIZ2_HUMAN	zinc finger, MIZ-type containing 2	732	Pro-rich.				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear replication fork	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding			breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						CCCTTTGCCCCCCTGCAGCCC	0.687													28	11					6.38683e-12	8.12869e-12	0.037714	1	0	A	44805131	C	A	44805131	3	1	7	1	0	0	0	0	1	0	0	0	17755	623	22	5	2253	5	ZMIZ2	7	44805131	Missense_Mutation	SNP	C	TCGA-CS-5393-01A-01D-1468-08	14712740	44805131	114333532	16	281											
ABCB4	5244	broad.mit.edu	37	7	87046828	87046828	+	Missense_Mutation	SNP	T	T	C			TCGA-CS-5393-01A-01D-1468-08	TCGA-CS-5393-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc229a3-8c45-4736-9cff-6495193c3c55	53327aaf-fa9c-44ed-8c21-1c557f76186e	g.chr7:87046828T>C	ENST00000265723.4	-	21	2593	c.2482A>G	c.(2482-2484)Aca>Gca	p.T828A	ABCB4_ENST00000358400.3_Missense_Mutation_p.T828A|ABCB4_ENST00000359206.3_Missense_Mutation_p.T828A|ABCB4_ENST00000453593.1_Missense_Mutation_p.T828A|ABCB4_ENST00000545634.1_Missense_Mutation_p.T828A	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	828	ABC transmembrane type-1 2.				cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity			breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)					CTGGTTCCTGTGGCCTGGGAG	0.428													18	43					0	0	0.049695	0	0	C	87046828	T	C	87046828	3	2	7	1	0	0	0	0	1	0	0	0	43	1696	59	3	1410	3	ABCB4	7	87046828	Missense_Mutation	SNP	T	TCGA-CS-5393-01A-01D-1468-08	42241697	87046828	72091835	17	282											
CSMD3	114788	broad.mit.edu	37	8	113304784	113304784	+	Missense_Mutation	SNP	G	G	A			TCGA-CS-5393-01A-01D-1468-08	TCGA-CS-5393-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc229a3-8c45-4736-9cff-6495193c3c55	53327aaf-fa9c-44ed-8c21-1c557f76186e	g.chr8:113304784G>A	ENST00000297405.5	-	55	9014	c.8770C>T	c.(8770-8772)Cct>Tct	p.P2924S	CSMD3_ENST00000343508.3_Missense_Mutation_p.P2884S|CSMD3_ENST00000352409.3_Missense_Mutation_p.P2854S|CSMD3_ENST00000455883.2_Missense_Mutation_p.P2755S	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2924	Sushi 19.					integral to membrane|plasma membrane		p.P2924T(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ATAGGTGGAGGATGGCTCCAC	0.403										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			57	235					0	0	0.048971	0	0	A	113304784	G	A	113304784	3	1	7	1	0	0	0	0	1	0	0	0	3971	1174	41	2	2421	2	CSMD3	8	113304784	Missense_Mutation	SNP	G	TCGA-CS-5393-01A-01D-1468-08		113304784	33059238	18	283											
DENND4C	55667	broad.mit.edu	37	9	19346705	19346705	+	Missense_Mutation	SNP	G	G	T			TCGA-CS-5393-01A-01D-1468-08	TCGA-CS-5393-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc229a3-8c45-4736-9cff-6495193c3c55	53327aaf-fa9c-44ed-8c21-1c557f76186e	g.chr9:19346705G>T	ENST00000380432.2	+	18	3116	c.3083G>T	c.(3082-3084)gGc>gTc	p.G1028V	DENND4C_ENST00000602925.1_Missense_Mutation_p.G1264V|DENND4C_ENST00000434457.2_Missense_Mutation_p.G1313V			Q5VZ89	DEN4C_HUMAN	DENN/MADD domain containing 4C	1028						integral to membrane				breast(1)|endometrium(8)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						AGAGAGTCTGGCATGACTACT	0.398													4	84					0.000602214	0.000733131	0.014758	1	0	T	19346705	G	T	19346705	3	4	7	1	0	0	0	0	1	0	0	0	4463	1203	42	5	3153	5	DENND4C	9	19346705	Missense_Mutation	SNP	G	TCGA-CS-5393-01A-01D-1468-08		19346705	121866726	19	284											
TRUB2	26995	broad.mit.edu	37	9	131084636	131084636	+	Missense_Mutation	SNP	G	G	C			TCGA-CS-5393-01A-01D-1468-08	TCGA-CS-5393-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc229a3-8c45-4736-9cff-6495193c3c55	53327aaf-fa9c-44ed-8c21-1c557f76186e	g.chr9:131084636G>C	ENST00000372890.4	-	1	385	c.52C>G	c.(52-54)Ccc>Gcc	p.P18A	TRUB2_ENST00000460320.1_5'UTR	NM_015679.1	NP_056494.1	O95900	TRUB2_HUMAN	TruB pseudouridine (psi) synthase family member 2	18					pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding			kidney(2)|large_intestine(2)|lung(3)|ovary(1)	8						AGCCCCGGGGGCTTATAGACC	0.592													3	120					0	0	0.004672	0	0	C	131084636	G	C	131084636	3	2	7	1	0	0	0	0	1	0	0	0	16664	1203	42	5	975	5	TRUB2	9	131084636	Missense_Mutation	SNP	G	TCGA-CS-5393-01A-01D-1468-08	111737931	131084636	10128795	20	285											
CELF2	10659	broad.mit.edu	37	10	11363181	11363181	+	Missense_Mutation	SNP	C	C	G			TCGA-CS-5393-01A-01D-1468-08	TCGA-CS-5393-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc229a3-8c45-4736-9cff-6495193c3c55	53327aaf-fa9c-44ed-8c21-1c557f76186e	g.chr10:11363181C>G	ENST00000379261.4	+	11	1179	c.1087C>G	c.(1087-1089)Ctg>Gtg	p.L363V	CELF2_ENST00000416382.2_Missense_Mutation_p.L363V|CELF2_ENST00000427450.1_Missense_Mutation_p.L345V|CELF2_ENST00000537122.1_Missense_Mutation_p.L258V|CELF2_ENST00000417956.2_Missense_Mutation_p.L343V|CELF2_ENST00000354897.3_Missense_Mutation_p.L357V|CELF2_ENST00000315874.4_Missense_Mutation_p.L345V|CELF2_ENST00000542579.1_Missense_Mutation_p.L376V|CELF2_ENST00000354440.2_Missense_Mutation_p.L345V|CELF2_ENST00000450189.1_Missense_Mutation_p.L376V|CELF2_ENST00000399850.3_Missense_Mutation_p.L345V|CELF2_ENST00000608830.1_Missense_Mutation_p.L343V|CELF2_ENST00000609692.1_Missense_Mutation_p.L343V	NM_001025077.2	NP_001020248.1	O95319	CELF2_HUMAN	CUGBP, Elav-like family member 2	363	Ala-rich.|Necessary for RNA-binding, TNNT2 exon 5 and NMDA R1 exon 21 inclusion.				mRNA processing|regulation of heart contraction	cytoplasm|nucleus	nucleotide binding|protein binding|RNA binding			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	16						TATGGCGGCTCTGAATGGAGG	0.502													4	132					0	0	0.009096	0	0	G	11363181	C	G	11363181	3	3	7	1	0	0	0	0	1	0	0	0	3238	912	32	4	1237	4	CELF2	10	11363181	Missense_Mutation	SNP	C	TCGA-CS-5393-01A-01D-1468-08		11363181	124171566	21	286											
OR51F2	119694	broad.mit.edu	37	11	4843405	4843405	+	Missense_Mutation	SNP	A	A	G			TCGA-CS-5393-01A-01D-1468-08	TCGA-CS-5393-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc229a3-8c45-4736-9cff-6495193c3c55	53327aaf-fa9c-44ed-8c21-1c557f76186e	g.chr11:4843405A>G	ENST00000322110.5	+	1	855	c.790A>G	c.(790-792)Atc>Gtc	p.I264V	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001004753.1	NP_001004753.1	Q8NH61	O51F2_HUMAN	olfactory receptor, family 51, subfamily F, member 2	264					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGCTGTTTCCATCTTCTACCT	0.478													27	49					0	0	0.0918	0	0	G	4843405	A	G	4843405	3	3	7	1	0	0	0	0	1	0	0	0	11145	217	8	3	792	3	OR51F2	11	4843405	Missense_Mutation	SNP	A	TCGA-CS-5393-01A-01D-1468-08		4843405	130163111	22	287											
OR4C6	219432	broad.mit.edu	37	11	55432839	55432839	+	Missense_Mutation	SNP	T	T	C			TCGA-CS-5393-01A-01D-1468-08	TCGA-CS-5393-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc229a3-8c45-4736-9cff-6495193c3c55	53327aaf-fa9c-44ed-8c21-1c557f76186e	g.chr11:55432839T>C	ENST00000314259.3	+	1	226	c.197T>C	c.(196-198)cTt>cCt	p.L66P		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	66					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						TTCTTGTCCCTTTTGGATGTC	0.448													3	230					0	0	0.009096	0	0	C	55432839	T	C	55432839	3	2	7	1	0	0	0	0	1	0	0	0	11100	1609	56	3	199	3	OR4C6	11	55432839	Missense_Mutation	SNP	T	TCGA-CS-5393-01A-01D-1468-08	50589434	55432839	79573677	23	288											
CCDC82	79780	broad.mit.edu	37	11	96092275	96092275	+	Missense_Mutation	SNP	A	A	T			TCGA-CS-5393-01A-01D-1468-08	TCGA-CS-5393-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc229a3-8c45-4736-9cff-6495193c3c55	53327aaf-fa9c-44ed-8c21-1c557f76186e	g.chr11:96092275A>T	ENST00000278520.5	-	8	1876	c.1448T>A	c.(1447-1449)tTc>tAc	p.F483Y	CCDC82_ENST00000542662.1_Missense_Mutation_p.F483Y|CCDC82_ENST00000423339.2_Missense_Mutation_p.F483Y			Q8N4S0	CCD82_HUMAN	coiled-coil domain containing 82	483							protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)		BRCA - Breast invasive adenocarcinoma(274;0.154)		GTATAGTTTGAATTTAAAATG	0.343													31	81					0	0	0.045705	0	0	T	96092275	A	T	96092275	3	4	7	1	0	0	0	0	1	0	0	0	2876	246	9	5	194	5	CCDC82	11	96092275	Missense_Mutation	SNP	A	TCGA-CS-5393-01A-01D-1468-08	40659436	96092275	38914241	24	289											
OR8B4	283162	broad.mit.edu	37	11	124293908	124293908	+	Missense_Mutation	SNP	G	G	A			TCGA-CS-5393-01A-01D-1468-08	TCGA-CS-5393-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc229a3-8c45-4736-9cff-6495193c3c55	53327aaf-fa9c-44ed-8c21-1c557f76186e	g.chr11:124293908G>A	ENST00000356130.3	-	1	881	c.860C>T	c.(859-861)tCg>tTg	p.S287L		NM_001005196.1	NP_001005196.1	Q96RC9	OR8B4_HUMAN	olfactory receptor, family 8, subfamily B, member 4	287					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(1)|urinary_tract(1)	32		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		ACTGTAGATCGAAGGGTTAAG	0.443													32	52					0	0	0.050027	0	0	A	124293908	G	A	124293908	3	1	7	1	0	0	0	0	1	0	0	0	11276	1059	37	1	71	1	OR8B4	11	124293908	Missense_Mutation	SNP	G	TCGA-CS-5393-01A-01D-1468-08	28201633	124293908	10712608	25	290											
FAM118B	79607	broad.mit.edu	37	11	126126563	126126563	+	Silent	SNP	C	C	G			TCGA-CS-5393-01A-01D-1468-08	TCGA-CS-5393-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc229a3-8c45-4736-9cff-6495193c3c55	53327aaf-fa9c-44ed-8c21-1c557f76186e	g.chr11:126126563C>G	ENST00000533050.1	+	7	1291	c.798C>G	c.(796-798)gtC>gtG	p.V266V	FAM118B_ENST00000360194.4_Silent_p.V266V|FAM118B_ENST00000529731.1_Silent_p.V190V	NM_024556.3	NP_078832.1	Q9BPY3	F118B_HUMAN	family with sequence similarity 118, member B	266										breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)	13	all_hematologic(175;0.145)	Breast(109;0.00156)|Lung NSC(97;0.00948)|all_lung(97;0.0101)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0784)		TGGAGGCTGTCAAGCATAAAT	0.448													41	53					0	0	0.09836	0	0	G	126126563	C	G	126126563	2	3	7	1	0	0	0	0	0	0	0	1	5443	813	29	5		5	FAM118B	11	126126563	Silent	SNP	C	TCGA-CS-5393-01A-01D-1468-08	1832655	126126563	8879953	26	291											
PRDM10	56980	broad.mit.edu	37	11	129784709	129784709	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CS-5393-01A-01D-1468-08	TCGA-CS-5393-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc229a3-8c45-4736-9cff-6495193c3c55	53327aaf-fa9c-44ed-8c21-1c557f76186e	g.chr11:129784709G>A	ENST00000358825.5	-	18	2974	c.2743C>T	c.(2743-2745)Cga>Tga	p.R915*	PRDM10_ENST00000526082.1_Nonsense_Mutation_p.R829*|PRDM10_ENST00000360871.3_Nonsense_Mutation_p.R911*|PRDM10_ENST00000423662.2_Nonsense_Mutation_p.R829*|PRDM10_ENST00000528746.1_Nonsense_Mutation_p.R885*|PRDM10_ENST00000304538.6_Nonsense_Mutation_p.R825*	NM_020228.2	NP_064613.2	Q9NQV6	PRD10_HUMAN	PR domain containing 10	915	Thr-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)		TGTGGCGTTCGGTAGTCTGTC	0.552													11	325					0	0	0.080935	0	0	A	129784709	G	A	129784709	4	1	7	1	0	0	0	0	0	1	0	0	12503	1124	39	1	759	1	PRDM10	11	129784709	Nonsense_Mutation	SNP	G	TCGA-CS-5393-01A-01D-1468-08	3658146	129784709	5221807	27	292											
PYROXD1	79912	broad.mit.edu	37	12	21593340	21593340	+	Silent	SNP	A	A	G			TCGA-CS-5393-01A-01D-1468-08	TCGA-CS-5393-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc229a3-8c45-4736-9cff-6495193c3c55	53327aaf-fa9c-44ed-8c21-1c557f76186e	g.chr12:21593340A>G	ENST00000240651.9	+	2	177	c.123A>G	c.(121-123)gtA>gtG	p.V41V	PYROXD1_ENST00000538582.1_5'UTR|PYROXD1_ENST00000545178.1_Silent_p.V41V	NM_024854.3	NP_079130.2	Q8WU10	PYRD1_HUMAN	pyridine nucleotide-disulphide oxidoreductase domain 1	41							oxidoreductase activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|soft_tissue(1)	18						TTCTCTTGGTAACAGCTTCTC	0.289													9	140					0	0	0.069234	0	0	G	21593340	A	G	21593340	2	3	7	1	0	0	0	0	0	0	0	1	12918	349	13	3		3	PYROXD1	12	21593340	Silent	SNP	A	TCGA-CS-5393-01A-01D-1468-08		21593340	112258555	28	293											
TROAP	10024	broad.mit.edu	37	12	49717665	49717665	+	Missense_Mutation	SNP	C	C	A			TCGA-CS-5393-01A-01D-1468-08	TCGA-CS-5393-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc229a3-8c45-4736-9cff-6495193c3c55	53327aaf-fa9c-44ed-8c21-1c557f76186e	g.chr12:49717665C>A	ENST00000551245.1	+	3	293	c.182C>A	c.(181-183)cCc>cAc	p.P61H	TROAP_ENST00000550709.1_Missense_Mutation_p.P61H|TROAP_ENST00000549534.1_3'UTR|TROAP_ENST00000548311.1_Missense_Mutation_p.P61H|TROAP_ENST00000549275.1_Intron|TROAP_ENST00000257909.3_Missense_Mutation_p.P61H|RP11-161H23.9_ENST00000553259.1_RNA|TROAP_ENST00000380327.5_Missense_Mutation_p.P61H			Q12815	TROAP_HUMAN	trophinin associated protein	61					cell adhesion	cytoplasm				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	32						ATTCAACGCCCCCTCGTTGAT	0.562													4	167					0.00909568	0.0108374	0.009096	1	0	A	49717665	C	A	49717665	3	1	7	1	0	0	0	0	1	0	0	0	16636	623	22	5	188	5	TROAP	12	49717665	Missense_Mutation	SNP	C	TCGA-CS-5393-01A-01D-1468-08	28124325	49717665	84134230	29	294											
KRT6C	286887	broad.mit.edu	37	12	52865067	52865067	+	Missense_Mutation	SNP	A	A	G			TCGA-CS-5393-01A-01D-1468-08	TCGA-CS-5393-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc229a3-8c45-4736-9cff-6495193c3c55	53327aaf-fa9c-44ed-8c21-1c557f76186e	g.chr12:52865067A>G	ENST00000252250.6	-	5	973	c.926T>C	c.(925-927)aTg>aCg	p.M309T		NM_173086.4	NP_775109.2	P48668	K2C6C_HUMAN	keratin 6C	309	Coil 1B.|Rod.				cytoskeleton organization	keratin filament	structural molecule activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|prostate(2)|skin(2)	23				BRCA - Breast invasive adenocarcinoma(357;0.0828)		GTGGGTCTGCATCTGGGACAG	0.507													45	85					0	0	0.048971	0	0	G	52865067	A	G	52865067	3	3	7	1	0	0	0	0	1	0	0	0	8525	217	8	3	788	3	KRT6C	12	52865067	Missense_Mutation	SNP	A	TCGA-CS-5393-01A-01D-1468-08	3147402	52865067	80986828	30	295											
KRT77	374454	broad.mit.edu	37	12	53088518	53088518	+	Silent	SNP	G	G	A	rs75198741		TCGA-CS-5393-01A-01D-1468-08	TCGA-CS-5393-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc229a3-8c45-4736-9cff-6495193c3c55	53327aaf-fa9c-44ed-8c21-1c557f76186e	g.chr12:53088518G>A	ENST00000341809.3	-	5	1000	c.972C>T	c.(970-972)gaC>gaT	p.D324D	KRT77_ENST00000537195.1_Silent_p.D91D|RP11-641A6.3_ENST00000547533.1_RNA	NM_175078.2	NP_778253.2	Q7Z794	K2C1B_HUMAN	keratin 77	324	Linker 12.|Rod.					keratin filament	structural molecule activity			NS(2)|endometrium(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						AACGGTTATTGTCCATGGACA	0.572													4	116					0	0	0.009096	0	0	A	53088518	G	A	53088518	2	1	7	1	0	0	0	0	0	0	0	1	8533	1368	48	2		2	KRT77	12	53088518	Silent	SNP	G	TCGA-CS-5393-01A-01D-1468-08	223451	53088518	80763377	31	296											
DNAJC14	85406	broad.mit.edu	37	12	56217271	56217271	+	Missense_Mutation	SNP	G	G	A			TCGA-CS-5393-01A-01D-1468-08	TCGA-CS-5393-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc229a3-8c45-4736-9cff-6495193c3c55	53327aaf-fa9c-44ed-8c21-1c557f76186e	g.chr12:56217271G>A	ENST00000357606.3	-	4	1718	c.1429C>T	c.(1429-1431)Cat>Tat	p.H477Y	DNAJC14_ENST00000317287.5_Missense_Mutation_p.H477Y|RP11-762I7.5_ENST00000546837.1_Missense_Mutation_p.S106L|DNAJC14_ENST00000317269.3_Missense_Mutation_p.H477Y			Q6Y2X3	DJC14_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 14	477	J.				protein folding|protein transport	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|unfolded protein binding			breast(2)|kidney(1)|large_intestine(8)|lung(7)|ovary(3)|prostate(1)|skin(1)	23						GCCCGGGGATGATGATTTTTG	0.443													3	80					0	0	0.009096	0	0	A	56217271	G	A	56217271	3	1	7	1	0	0	0	0	1	0	0	0	4660	1290	45	2	699	2	DNAJC14	12	56217271	Missense_Mutation	SNP	G	TCGA-CS-5393-01A-01D-1468-08	3128753	56217271	77634624	32	297											
OCA2	4948	broad.mit.edu	37	15	28235791	28235791	+	Silent	SNP	G	G	A			TCGA-CS-5393-01A-01D-1468-08	TCGA-CS-5393-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc229a3-8c45-4736-9cff-6495193c3c55	53327aaf-fa9c-44ed-8c21-1c557f76186e	g.chr15:28235791G>A	ENST00000354638.3	-	10	1202	c.1047C>T	c.(1045-1047)atC>atT	p.I349I	OCA2_ENST00000382996.2_Silent_p.I349I|OCA2_ENST00000353809.5_Intron	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II	349					eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		TTCTGTGCACGATCTGGAAAG	0.547									Oculocutaneous Albinism				5	167					0	0	0.014758	0	0	A	28235791	G	A	28235791	2	1	7	1	0	0	0	0	0	0	0	1	10863	1048	37	1		1	OCA2	15	28235791	Silent	SNP	G	TCGA-CS-5393-01A-01D-1468-08		28235791	74295601	33	298											
THBS1	7057	broad.mit.edu	37	15	39883403	39883403	+	Silent	SNP	A	A	G			TCGA-CS-5393-01A-01D-1468-08	TCGA-CS-5393-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc229a3-8c45-4736-9cff-6495193c3c55	53327aaf-fa9c-44ed-8c21-1c557f76186e	g.chr15:39883403A>G	ENST00000260356.5	+	15	2430	c.2265A>G	c.(2263-2265)ccA>ccG	p.P755P		NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN	thrombospondin 1	755					activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	Becaplermin(DB00102)	ACAACTGTCCATTCCATTACA	0.448													60	123					0	0	0.048971	0	0	G	39883403	A	G	39883403	2	3	7	1	0	0	0	0	0	0	0	1	15913	204	8	3		3	THBS1	15	39883403	Silent	SNP	A	TCGA-CS-5393-01A-01D-1468-08	11647612	39883403	62647989	34	299											
CCDC64B	146439	broad.mit.edu	37	16	3078744	3078744	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CS-5393-01A-01D-1468-08	TCGA-CS-5393-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc229a3-8c45-4736-9cff-6495193c3c55	53327aaf-fa9c-44ed-8c21-1c557f76186e	g.chr16:3078744delC	ENST00000573514.1	-	6	2764	c.574delG	c.(574-576)gccfs	p.A192fs	CCDC64B_ENST00000572449.1_Frame_Shift_Del_p.A399fs|CCDC64B_ENST00000389347.4_Frame_Shift_Del_p.A399fs			A1A5D9	BICR2_HUMAN	coiled-coil domain containing 64B	399										breast(1)|endometrium(2)|large_intestine(1)	4						CTGTGCAGGGCCTCCCCAGGG	0.667													2	4	---	---	---	---						-	3078744	C	-	3078744	7	5	7	1	0	1	0	1	0	0	0	0	2856	739	26	0	343	0	CCDC64B	16	3078744	Frame_Shift_Del	DEL	C	TCGA-CS-5393-01A-01D-1468-08		3078744	87276009	35	300											
IGSF6	10261	broad.mit.edu	37	16	21658638	21658638	+	Missense_Mutation	SNP	G	G	T	rs1454374	byFrequency	TCGA-CS-5393-01A-01D-1468-08	TCGA-CS-5393-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc229a3-8c45-4736-9cff-6495193c3c55	53327aaf-fa9c-44ed-8c21-1c557f76186e	g.chr16:21658638G>T	ENST00000268389.4	-	2	304	c.243C>A	c.(241-243)gaC>gaA	p.D81E	METTL9_ENST00000396014.4_Intron|METTL9_ENST00000358154.3_Intron	NM_005849.3	NP_005840.2	O95976	IGSF6_HUMAN	immunoglobulin superfamily, member 6	81	Ig-like C2-type.				cell surface receptor linked signaling pathway|immune response	integral to plasma membrane	transmembrane receptor activity			endometrium(1)|large_intestine(1)|lung(4)|urinary_tract(1)	7				GBM - Glioblastoma multiforme(48;0.066)		TTTTGCACCCGTCCAAGCACA	0.512													53	68					1.86277e-20	2.42593e-20	0.048971	1	0	T	21658638	G	T	21658638	3	4	7	1	0	0	0	0	1	0	0	0	7647	1136	40	5	502	5	IGSF6	16	21658638	Missense_Mutation	SNP	G	TCGA-CS-5393-01A-01D-1468-08	18579894	21658638	68696115	36	301											
TK2	7084	broad.mit.edu	37	16	66551051	66551053	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-CS-5393-01A-01D-1468-08	TCGA-CS-5393-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc229a3-8c45-4736-9cff-6495193c3c55	53327aaf-fa9c-44ed-8c21-1c557f76186e	g.chr16:66551051_66551053delCTT	ENST00000299697.7	-	8	954_956	c.730_732delAAG	c.(730-732)aagdel	p.K244del	TK2_ENST00000527284.1_In_Frame_Del_p.K171del|TK2_ENST00000417693.3_In_Frame_Del_p.K184del|TK2_ENST00000451102.2_In_Frame_Del_p.K202del|TK2_ENST00000525974.1_In_Frame_Del_p.K105del|TK2_ENST00000545043.2_In_Frame_Del_p.K177del|TK2_ENST00000564917.1_In_Frame_Del_p.K202del|TK2_ENST00000527800.1_In_Frame_Del_p.K105del|TK2_ENST00000544898.1_In_Frame_Del_p.K153del|TK2_ENST00000563369.2_In_Frame_Del_p.K105del|RP11-403P17.5_ENST00000561728.1_In_Frame_Del_p.E18del	NM_001172644.1|NM_001172645.1|NM_001271934.1|NM_001271935.1|NM_001272050.1|NM_004614.4	NP_001166115.1|NP_001166116.1|NP_001258863.1|NP_001258864.1|NP_001258979.1|NP_004605.4	O00142	KITM_HUMAN	thymidine kinase 2, mitochondrial	202					pyrimidine base metabolic process|pyrimidine nucleoside salvage	mitochondrial matrix	ATP binding|phosphotransferase activity, alcohol group as acceptor|thymidine kinase activity			large_intestine(1)|lung(2)|urinary_tract(1)	4		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0736)|Epithelial(162;0.237)		GCGGAATGACCTTCTCCTCTTCC	0.512											OREG0032067	type=REGULATORY REGION|TFbs=RELA|Dataset=RELA (p65) ChIP-PET Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with paired-end diTag sequencing (ChIP-PET)	10	485	---	---	---	---						-	66551053	CTT	-	66551051	7	5	7	1	0	1	0	1	0	0	0	0	15993	680	24	0	203	0	TK2	16	66551051	In_Frame_Del	DEL	CTT	TCGA-CS-5393-01A-01D-1468-08	44892413	66551051	23803702	37	302											
TP53	7157	broad.mit.edu	37	17	7577532	7577532	+	Missense_Mutation	SNP	G	G	A			TCGA-CS-5393-01A-01D-1468-08	TCGA-CS-5393-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc229a3-8c45-4736-9cff-6495193c3c55	53327aaf-fa9c-44ed-8c21-1c557f76186e	g.chr17:7577532G>A	ENST00000420246.2	-	7	881	c.749C>T	c.(748-750)cCc>cTc	p.P250L	TP53_ENST00000359597.4_Missense_Mutation_p.P250L|TP53_ENST00000445888.2_Missense_Mutation_p.P250L|TP53_ENST00000269305.4_Missense_Mutation_p.P250L|TP53_ENST00000455263.2_Missense_Mutation_p.P250L|TP53_ENST00000413465.2_Missense_Mutation_p.P250L	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	250	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).		P -> A (in sporadic cancers; somatic mutation).|P -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> H (in sporadic cancers; somatic mutation).|P -> L (in sporadic cancers; somatic mutation).|P -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> Q (in sporadic cancers; somatic mutation).|P -> S (in sporadic cancers; somatic mutation).|P -> T (in sporadic cancers; somatic mutation).|RP -> SA (in a sporadic cancer; somatic mutation).|RP -> SS (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.P250L(45)|p.0?(8)|p.?(5)|p.P250H(4)|p.P250F(3)|p.P250N(2)|p.M246_P250delMNRRP(2)|p.P250_L252delPIL(2)|p.P250Q(2)|p.R248_P250delRRP(1)|p.P250_T253delPILT(1)|p.N247_P250delNRRP(1)|p.R249_P250delRP(1)|p.R249_T256delRPILTIIT(1)|p.I251fs*94(1)|p.R249_I251delRPI(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)		GGTGAGGATGGGCCTCCGGTT	0.577		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)			40	15					0	0	0.042209	0	0	A	7577532	G	A	7577532	3	1	7	1	0	0	0	0	1	0	0	0	16442	1232	43	2	541	2	TP53	17	7577532	Missense_Mutation	SNP	G	TCGA-CS-5393-01A-01D-1468-08		7577532	73617678	38	303											
KRT20	54474	broad.mit.edu	37	17	39034595	39034596	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-CS-5393-01A-01D-1468-08	TCGA-CS-5393-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc229a3-8c45-4736-9cff-6495193c3c55	53327aaf-fa9c-44ed-8c21-1c557f76186e	g.chr17:39034595_39034596delAG	ENST00000167588.3	-	6	981_982	c.940_941delCT	c.(940-942)ctafs	p.L314fs		NM_019010.2	NP_061883.1	P35900	K1C20_HUMAN	keratin 20	314	Coil 2.|Rod.				apoptosis|intermediate filament organization	Golgi apparatus|intermediate filament	protein binding|structural constituent of cytoskeleton			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(1)	14		Breast(137;0.000301)|Ovarian(249;0.15)				GGTCTCCTCTAGAGTGTGCTCC	0.46													30	86	---	---	---	---						-	39034596	AG	-	39034595	7	5	7	1	0	1	0	1	0	0	0	0	8501	420	15	0	345	0	KRT20	17	39034595	Frame_Shift_Del	DEL	AG	TCGA-CS-5393-01A-01D-1468-08	31457063	39034595	42160615	39	304											
SMARCA4	6597	broad.mit.edu	37	19	11132435	11132435	+	Missense_Mutation	SNP	A	A	G			TCGA-CS-5393-01A-01D-1468-08	TCGA-CS-5393-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc229a3-8c45-4736-9cff-6495193c3c55	53327aaf-fa9c-44ed-8c21-1c557f76186e	g.chr19:11132435A>G	ENST00000358026.2	+	19	2935	c.2651A>G	c.(2650-2652)cAc>cGc	p.H884R	SMARCA4_ENST00000541122.2_Missense_Mutation_p.H884R|SMARCA4_ENST00000413806.3_Missense_Mutation_p.H884R|SMARCA4_ENST00000589677.1_Missense_Mutation_p.H884R|SMARCA4_ENST00000429416.3_Missense_Mutation_p.H884R|SMARCA4_ENST00000344626.4_Missense_Mutation_p.H884R|SMARCA4_ENST00000450717.3_Missense_Mutation_p.H884R|SMARCA4_ENST00000444061.3_Missense_Mutation_p.H884R|SMARCA4_ENST00000590574.1_Missense_Mutation_p.H884R	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	884	Helicase ATP-binding.				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.H884P(1)|p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				GACGAAGGTCACCGCATGAAG	0.622			"F, N, Mis"		NSCLC								10	21					0	0	0.080935	0	0	G	11132435	A	G	11132435	3	3	7	1	0	0	0	0	1	0	0	0	14824	159	6	3	2721	3	SMARCA4	19	11132435	Missense_Mutation	SNP	A	TCGA-CS-5393-01A-01D-1468-08		11132435	47996548	40	305											
CD177	57126	broad.mit.edu	37	19	43865786	43865786	+	RNA	DEL	G	G	-			TCGA-CS-5393-01A-01D-1468-08	TCGA-CS-5393-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc229a3-8c45-4736-9cff-6495193c3c55	53327aaf-fa9c-44ed-8c21-1c557f76186e	g.chr19:43865786delG	ENST00000378009.4	+	0	1242				CTC-490G23.4_ENST00000607109.1_RNA|CD177_ENST00000607517.1_RNA	NM_020406.2	NP_065139.2	Q8N6Q3	CD177_HUMAN	CD177 molecule						blood coagulation|leukocyte migration	anchored to membrane|plasma membrane				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5		Prostate(69;0.00682)				ctggactcctgggtctgaggg	0.662													2	4	---	---	---	---						-	43865786	G	-	43865786	6	5	7	0	1	1	0	1	0	0	0	0	2993	1363	47	0		0	CD177	19	43865786	RNA	DEL	G	TCGA-CS-5393-01A-01D-1468-08	32733351	43865786	15263197	41	306											
EPS8L1	54869	broad.mit.edu	37	19	55597452	55597452	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CS-5393-01A-01D-1468-08	TCGA-CS-5393-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc229a3-8c45-4736-9cff-6495193c3c55	53327aaf-fa9c-44ed-8c21-1c557f76186e	g.chr19:55597452G>A	ENST00000201647.6	+	16	1598	c.1542G>A	c.(1540-1542)tgG>tgA	p.W514*	EPS8L1_ENST00000588359.1_Nonsense_Mutation_p.W200*|EPS8L1_ENST00000245618.5_Nonsense_Mutation_p.W387*|EPS8L1_ENST00000586329.1_Intron|EPS8L1_ENST00000540810.1_Nonsense_Mutation_p.W450*	NM_133180.2	NP_573441.2	Q8TE68	ES8L1_HUMAN	EPS8-like 1	514	SH3.					cytoplasm				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|prostate(1)	12			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		GTCGTAAGTGGTGGAAGGTTC	0.622													5	85					0	0	0.014758	0	0	A	55597452	G	A	55597452	4	1	7	1	0	0	0	0	0	1	0	0	5223	1270	44	2	1652	2	EPS8L1	19	55597452	Nonsense_Mutation	SNP	G	TCGA-CS-5393-01A-01D-1468-08	11731666	55597452	3531531	42	307											
RGAG1	57529	broad.mit.edu	37	X	109694416	109694416	+	Missense_Mutation	SNP	T	T	C			TCGA-CS-5393-01A-01D-1468-08	TCGA-CS-5393-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc229a3-8c45-4736-9cff-6495193c3c55	53327aaf-fa9c-44ed-8c21-1c557f76186e	g.chrX:109694416T>C	ENST00000465301.2	+	3	817	c.571T>C	c.(571-573)Tcc>Ccc	p.S191P	RGAG1_ENST00000540313.1_Missense_Mutation_p.S191P	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	191										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						TGAGGCAATGTCCACACCATT	0.483													67	48					0	0	0.048971	0	0	C	109694416	T	C	109694416	3	2	7	1	0	0	0	0	1	0	0	0	13326	1667	58	3	573	3	RGAG1	23	109694416	Missense_Mutation	SNP	T	TCGA-CS-5393-01A-01D-1468-08		109694416	45576144	43	308											
FUBP1	8880	broad.mit.edu	37	1	78422352	78422352	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CS-5394-01A-01D-1468-08	TCGA-CS-5394-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e67f766-3799-4ce1-8c9c-d966d96302bf	ed3dfb55-5905-4bb2-a497-276c2d8b43d2	g.chr1:78422352C>T	ENST00000370767.1	-	17	1697	c.1610G>A	c.(1609-1611)tGg>tAg	p.W537*	FUBP1_ENST00000436586.2_Nonsense_Mutation_p.W558*|FUBP1_ENST00000370768.2_Nonsense_Mutation_p.W537*			Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1	537	Pro-rich.				transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						ATAAGCAGCCCAAGCTGCTGA	0.458			"F, N"		oligodendroglioma								23	5					0	0	1	0	0	T	78422352	C	T	78422352	4	4	8	1	0	0	0	0	0	1	0	0	6127	595	21	2	340	2	FUBP1	1	78422352	Nonsense_Mutation	SNP	C	TCGA-CS-5394-01A-01D-1468-08		78422352	170828269	1	309											
TAGLN2	8407	broad.mit.edu	37	1	159890149	159890149	+	Missense_Mutation	SNP	T	T	C			TCGA-CS-5394-01A-01D-1468-08	TCGA-CS-5394-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e67f766-3799-4ce1-8c9c-d966d96302bf	ed3dfb55-5905-4bb2-a497-276c2d8b43d2	g.chr1:159890149T>C	ENST00000368097.4	-	2	461	c.151A>G	c.(151-153)Aac>Gac	p.N51D	TAGLN2_ENST00000478033.1_5'UTR|TAGLN2_ENST00000320307.4_Missense_Mutation_p.N51D|TAGLN2_ENST00000368096.1_Missense_Mutation_p.N72D	NM_001277223.1|NM_003564.1	NP_001264152.1|NP_003555.1	P37802	TAGL2_HUMAN	transgelin 2	51	CH.				muscle organ development	nuclear membrane|plasma membrane	protein binding			endometrium(1)|large_intestine(2)|lung(6)	9	all_hematologic(112;0.0597)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TTCTGGAAGTTCTCGCGTCCA	0.587													40	4					0	0	1	0	0	C	159890149	T	C	159890149	3	2	8	1	0	0	0	0	1	0	0	0	15596	1783	62	3	464	3	TAGLN2	1	159890149	Missense_Mutation	SNP	T	TCGA-CS-5394-01A-01D-1468-08	81467797	159890149	89360472	2	310											
TAF1B	9014	broad.mit.edu	37	2	10016065	10016065	+	Missense_Mutation	SNP	A	A	G			TCGA-CS-5394-01A-01D-1468-08	TCGA-CS-5394-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e67f766-3799-4ce1-8c9c-d966d96302bf	ed3dfb55-5905-4bb2-a497-276c2d8b43d2	g.chr2:10016065A>G	ENST00000263663.5	+	7	813	c.625A>G	c.(625-627)Atg>Gtg	p.M209V	TAF1B_ENST00000396242.3_Intron	NM_005680.2	NP_005671	Q53T94	TAF1B_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, B, 63kDa	209					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	14	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					AATCGTGAAGATGACCATGCC	0.413													52	67					0	0	1	0	0	G	10016065	A	G	10016065	3	3	8	1	0	0	0	0	1	0	0	0	15577	333	12	3	651	3	TAF1B	2	10016065	Missense_Mutation	SNP	A	TCGA-CS-5394-01A-01D-1468-08		10016065	233183308	3	311											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-CS-5394-01A-01D-1468-08	TCGA-CS-5394-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e67f766-3799-4ce1-8c9c-d966d96302bf	ed3dfb55-5905-4bb2-a497-276c2d8b43d2	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								19	39					0	0	1	0	0	T	209113112	C	T	209113112	3	4	8	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-CS-5394-01A-01D-1468-08	199097047	209113112	34086261	4	312											
PBRM1	55193	broad.mit.edu	37	3	52621372	52621372	+	Silent	SNP	G	G	C			TCGA-CS-5394-01A-01D-1468-08	TCGA-CS-5394-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e67f766-3799-4ce1-8c9c-d966d96302bf	ed3dfb55-5905-4bb2-a497-276c2d8b43d2	g.chr3:52621372G>C	ENST00000356770.4	-	18	3026	c.3024C>G	c.(3022-3024)gtC>gtG	p.V1008V	PBRM1_ENST00000410007.1_Silent_p.V1015V|PBRM1_ENST00000296302.7_Silent_p.V1040V|PBRM1_ENST00000409767.1_Silent_p.V1055V|PBRM1_ENST00000394830.3_Silent_p.V1015V|PBRM1_ENST00000409057.1_Silent_p.V1040V|PBRM1_ENST00000409114.3_Silent_p.V1055V|PBRM1_ENST00000337303.4_Silent_p.V1040V			Q86U86	PB1_HUMAN	polybromo 1	1040	BAH 1.				chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		TTCTTACCTTGACAAACATGA	0.318			"Mis, N, F, S, D, O"		"clear cell renal carcinoma, breast"								29	38					0	0	1	0	0	C	52621372	G	C	52621372	2	2	8	1	0	0	0	0	0	0	0	1	11538	1277	45	5		5	PBRM1	3	52621372	Silent	SNP	G	TCGA-CS-5394-01A-01D-1468-08		52621372	145401058	5	313											
PCDH10	57575	broad.mit.edu	37	4	134071550	134071553	+	Frame_Shift_Del	DEL	CAAA	CAAA	-			TCGA-CS-5394-01A-01D-1468-08	TCGA-CS-5394-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e67f766-3799-4ce1-8c9c-d966d96302bf	ed3dfb55-5905-4bb2-a497-276c2d8b43d2	g.chr4:134071550_134071553delCAAA	ENST00000264360.5	+	1	1081_1084	c.255_258delCAAA	c.(253-258)tgcaaafs	p.CK85fs		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10		Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.C85*(1)		NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		AACAAATCTGCAAACAGAGCCCCT	0.549													30	72	---	---	---	---						-	134071553	CAAA	-	134071550	7	5	8	1	0	1	0	1	0	0	0	0	11554	718	25	0	257	0	PCDH10	4	134071550	Frame_Shift_Del	DEL	CAAA	TCGA-CS-5394-01A-01D-1468-08		134071550	57082726	6	314											
FSTL5	56884	broad.mit.edu	37	4	162841556	162841556	+	Splice_Site	SNP	C	C	T			TCGA-CS-5394-01A-01D-1468-08	TCGA-CS-5394-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e67f766-3799-4ce1-8c9c-d966d96302bf	ed3dfb55-5905-4bb2-a497-276c2d8b43d2	g.chr4:162841556C>T	ENST00000306100.5	-	4	845	c.409G>A	c.(409-411)Gga>Aga	p.G137R	FSTL5_ENST00000536695.1_Splice_Site_p.G136R|FSTL5_ENST00000427802.2_Splice_Site_p.G136R|FSTL5_ENST00000379164.4_Splice_Site_p.G136R	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	137						extracellular region	calcium ion binding			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		CTTCATTTACCTTTAAAGAAG	0.378													20	32					0	0	1	0	0	T	162841556	C	T	162841556	5	4	8	1	0	0	0	0	0	0	1	0	6115	695	24	2	2186	2	FSTL5	4	162841556	Splice_Site	SNP	C	TCGA-CS-5394-01A-01D-1468-08	28770006	162841556	28312720	7	315											
PIK3R1	5295	broad.mit.edu	37	5	67589586	67589591	+	In_Frame_Del	DEL	ATGAAT	ATGAAT	-	rs17852841		TCGA-CS-5394-01A-01D-1468-08	TCGA-CS-5394-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e67f766-3799-4ce1-8c9c-d966d96302bf	ed3dfb55-5905-4bb2-a497-276c2d8b43d2	g.chr5:67589586_67589591delATGAAT	ENST00000521381.1	+	11	1965_1970	c.1349_1354delATGAAT	c.(1348-1356)catgaatat>cat	p.EY451del	PIK3R1_ENST00000396611.1_In_Frame_Del_p.EY451del|PIK3R1_ENST00000521657.1_In_Frame_Del_p.EY451del|PIK3R1_ENST00000320694.8_In_Frame_Del_p.EY151del|PIK3R1_ENST00000523872.1_In_Frame_Del_p.EY88del|PIK3R1_ENST00000336483.5_In_Frame_Del_p.EY181del|PIK3R1_ENST00000274335.5_In_Frame_Del_p.EY451del	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	451			E -> K (in dbSNP:rs17852841).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.H450_E451del(2)|p.G446_Y452>VI(1)|p.Y152N(1)|p.0?(1)|p.?(1)|p.Y452N(1)|p.Y182N(1)|p.E451_Y452del(1)|p.N453_T454insN(1)|p.E451_Y452delEY(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	AAAAAATTACATGAATATAACACTCA	0.277			"Mis, F, O"		"gliobastoma, ovarian, colorectal"					TCGA GBM(4;<1E-08)			21	27	---	---	---	---						-	67589591	ATGAAT	-	67589586	7	5	8	1	0	1	0	1	0	0	0	0	11966	217	8	0	1517	0	PIK3R1	5	67589586	In_Frame_Del	DEL	ATGAAT	TCGA-CS-5394-01A-01D-1468-08		67589586	113325674	8	316											
PAX4	5078	broad.mit.edu	37	7	127255106	127255106	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-5394-01A-01D-1468-08	TCGA-CS-5394-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e67f766-3799-4ce1-8c9c-d966d96302bf	ed3dfb55-5905-4bb2-a497-276c2d8b43d2	g.chr7:127255106C>T	ENST00000341640.2	-	2	369	c.164G>A	c.(163-165)cGc>cAc	p.R55H	PAX4_ENST00000378740.2_Missense_Mutation_p.R55H|PAX4_ENST00000463946.1_Missense_Mutation_p.R53H|PAX4_ENST00000338516.3_Missense_Mutation_p.R63H	NM_006193.2	NP_006184.2	O43316	PAX4_HUMAN	paired box 4	63	Paired.				cell differentiation|endocrine pancreas development|organ morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|kidney(2)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						GACACCTGTGCGGTAGTAACG	0.572													44	42					0	0	1	0	0	T	127255106	C	T	127255106	3	4	8	1	0	0	0	0	1	0	0	0	11528	768	27	1	899	1	PAX4	7	127255106	Missense_Mutation	SNP	C	TCGA-CS-5394-01A-01D-1468-08		127255106	31883557	9	317											
BHLHE22	27319	broad.mit.edu	37	8	65494037	65494038	+	In_Frame_Ins	INS	-	-	AGCAGC			TCGA-CS-5394-01A-01D-1468-08	TCGA-CS-5394-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e67f766-3799-4ce1-8c9c-d966d96302bf	ed3dfb55-5905-4bb2-a497-276c2d8b43d2	g.chr8:65494037_65494038insAGCAGC	ENST00000321870.1	+	1	1224_1225	c.690_691insAGCAGC	c.(691-693)agc>AGCAGCagc	p.231_231S>SSS	RP11-21C4.1_ENST00000517909.1_RNA	NM_152414.4	NP_689627.1	Q8NFJ8	BHE22_HUMAN	basic helix-loop-helix family, member e22	231	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	5						gcagcagcagcagcagcagcag	0.698													3	4	---	---	---	---						AGCAGC	65494038	-	AGCAGC	65494037	7	5	8	1	0	1	1	0	0	0	0	0	1420	709	25	0	692	0	BHLHE22	8	65494037	In_Frame_Ins	INS	-	TCGA-CS-5394-01A-01D-1468-08		65494037	80869985	10	318											
HSPA5	3309	broad.mit.edu	37	9	128001229	128001229	+	Silent	SNP	C	C	T			TCGA-CS-5394-01A-01D-1468-08	TCGA-CS-5394-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e67f766-3799-4ce1-8c9c-d966d96302bf	ed3dfb55-5905-4bb2-a497-276c2d8b43d2	g.chr9:128001229C>T	ENST00000324460.6	-	5	1190	c.987G>A	c.(985-987)gaG>gaA	p.E329E		NM_005347.4	NP_005338.1	P11021	GRP78_HUMAN	heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa)	329					anti-apoptosis|cellular response to glucose starvation|ER-associated protein catabolic process|platelet activation|platelet degranulation|regulation of protein folding in endoplasmic reticulum	cell surface|endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|ER-Golgi intermediate compartment|integral to endoplasmic reticulum membrane|melanosome|midbody|nucleus|perinuclear region of cytoplasm	ATP binding|ATPase activity|calcium ion binding|caspase inhibitor activity|chaperone binding|misfolded protein binding|protein binding, bridging|protein domain specific binding|ubiquitin protein ligase binding|unfolded protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(4)|prostate(2)|skin(1)	23					Antihemophilic Factor(DB00025)	CCATGTTGAGCTCTTCAAATT	0.418										Prostate(1;0.17)			4	65					0	0	1	0	0	T	128001229	C	T	128001229	2	4	8	1	0	0	0	0	0	0	0	1	7457	796	28	2		2	HSPA5	9	128001229	Silent	SNP	C	TCGA-CS-5394-01A-01D-1468-08		128001229	13212202	11	319											
ANGPTL2	23452	broad.mit.edu	37	9	129853996	129853996	+	Missense_Mutation	SNP	T	T	C			TCGA-CS-5394-01A-01D-1468-08	TCGA-CS-5394-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e67f766-3799-4ce1-8c9c-d966d96302bf	ed3dfb55-5905-4bb2-a497-276c2d8b43d2	g.chr9:129853996T>C	ENST00000373425.3	-	4	1852	c.1235A>G	c.(1234-1236)aAc>aGc	p.N412S	RALGPS1_ENST00000394022.3_Intron|RALGPS1_ENST00000259351.5_Intron|RALGPS1_ENST00000373436.1_Intron|ANGPTL2_ENST00000373417.1_Missense_Mutation_p.N110S|RALGPS1_ENST00000373434.1_Intron|RALGPS1_ENST00000424082.2_Intron	NM_012098.2	NP_036230.1	Q9UKU9	ANGL2_HUMAN	angiopoietin-like 2	412	Fibrinogen C-terminal.				multicellular organismal development|signal transduction	extracellular space	receptor binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|urinary_tract(1)	18						CTGCTTGCCGTTGTGCCATGT	0.537													109	129					0	0	1	0	0	C	129853996	T	C	129853996	3	2	8	1	0	0	0	0	1	0	0	0	610	1725	60	3	254	3	ANGPTL2	9	129853996	Missense_Mutation	SNP	T	TCGA-CS-5394-01A-01D-1468-08	1852767	129853996	11359435	12	320											
HKDC1	80201	broad.mit.edu	37	10	71007297	71007297	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-5394-01A-01D-1468-08	TCGA-CS-5394-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e67f766-3799-4ce1-8c9c-d966d96302bf	ed3dfb55-5905-4bb2-a497-276c2d8b43d2	g.chr10:71007297C>T	ENST00000354624.5	+	9	1346	c.1213C>T	c.(1213-1215)Cgg>Tgg	p.R405W	HKDC1_ENST00000395086.2_Missense_Mutation_p.R405W|HKDC1_ENST00000488706.1_3'UTR	NM_025130.3	NP_079406	Q2TB90	HKDC1_HUMAN	hexokinase domain containing 1	405					glycolysis	mitochondrion|nucleus	ATP binding|hexokinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						GAAGGTGGAACGGCTCCGGAC	0.612													17	35					0	0	1	0	0	T	71007297	C	T	71007297	3	4	8	1	0	0	0	0	1	0	0	0	7234	527	19	1	1247	1	HKDC1	10	71007297	Missense_Mutation	SNP	C	TCGA-CS-5394-01A-01D-1468-08		71007297	64527450	13	321											
ACTA2	59	broad.mit.edu	37	10	90708581	90708581	+	Missense_Mutation	SNP	A	A	G			TCGA-CS-5394-01A-01D-1468-08	TCGA-CS-5394-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e67f766-3799-4ce1-8c9c-d966d96302bf	ed3dfb55-5905-4bb2-a497-276c2d8b43d2	g.chr10:90708581A>G	ENST00000458208.1	-	2	581	c.107T>C	c.(106-108)aTt>aCt	p.I36T	STAMBPL1_ENST00000371927.3_Intron|ACTA2_ENST00000224784.6_Missense_Mutation_p.I36T|ACTA2_ENST00000480297.1_5'UTR	NM_001141945.1	NP_001135417.1	P62736	ACTA_HUMAN	actin, alpha 2, smooth muscle, aorta	36					response to virus	cytosol	ATP binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|skin(1)|urinary_tract(2)	17		Colorectal(252;0.0161)		Colorectal(12;0.000123)|COAD - Colon adenocarcinoma(12;0.00018)		ACGTCCCACAATGGATGGGAA	0.502													57	55					0	0	1	0	0	G	90708581	A	G	90708581	3	3	8	1	0	0	0	0	1	0	0	0	192	101	4	3	1058	3	ACTA2	10	90708581	Missense_Mutation	SNP	A	TCGA-CS-5394-01A-01D-1468-08	19701284	90708581	44826166	14	322											
MEN1	4221	broad.mit.edu	37	11	64573758	64573758	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-5394-01A-01D-1468-08	TCGA-CS-5394-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e67f766-3799-4ce1-8c9c-d966d96302bf	ed3dfb55-5905-4bb2-a497-276c2d8b43d2	g.chr11:64573758C>T	ENST00000337652.1	-	7	1513	c.1010G>A	c.(1009-1011)cGc>cAc	p.R337H	MEN1_ENST00000443283.1_Missense_Mutation_p.R337H|MEN1_ENST00000377326.3_Missense_Mutation_p.R332H|MEN1_ENST00000315422.4_Missense_Mutation_p.R332H|MEN1_ENST00000377313.1_Missense_Mutation_p.R337H|MEN1_ENST00000377321.1_Missense_Mutation_p.R297H|MEN1_ENST00000394374.2_Missense_Mutation_p.R337H|MEN1_ENST00000312049.6_Missense_Mutation_p.R332H|MEN1_ENST00000478548.1_5'UTR|MEN1_ENST00000377316.2_Missense_Mutation_p.R332H|MEN1_ENST00000394376.1_Missense_Mutation_p.R337H	NM_130803.2	NP_570715	O00255	MEN1_HUMAN	multiple endocrine neoplasia I	337	Interaction with FANCD2.				DNA repair|histone lysine methylation|MAPKKK cascade|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of JNK cascade|negative regulation of osteoblast differentiation|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of telomerase activity|negative regulation of transcription from RNA polymerase II promoter|osteoblast development|positive regulation of protein binding|positive regulation of transforming growth factor beta receptor signaling pathway|response to gamma radiation|response to UV|transcription, DNA-dependent	chromatin|cleavage furrow|cytosol|histone methyltransferase complex|nuclear matrix|soluble fraction	double-stranded DNA binding|four-way junction DNA binding|protein binding, bridging|protein N-terminus binding|R-SMAD binding|transcription regulatory region DNA binding|Y-form DNA binding			NS(7)|adrenal_gland(5)|breast(2)|central_nervous_system(5)|endometrium(1)|gastrointestinal_tract_(site_indeterminate)(15)|large_intestine(2)|lung(21)|ovary(1)|pancreas(64)|parathyroid(181)|pituitary(7)|prostate(4)|retroperitoneum(1)|skin(1)|small_intestine(13)|soft_tissue(4)|stomach(1)|thymus(2)	337						CCGCACATTGCGGTTGCGACA	0.602			"D, Mis, N, F, S"		"parathyroid tumors, Pancreatic neuroendocrine tumors"	"parathyroid adenoma, pituitary adenoma, pancreatic islet cell, carcinoid"			Multiple Endocrine Neoplasia, type 1;Hyperparathyroidism, Familial Isolated		OREG0004014	type=REGULATORY REGION|Gene=MEN1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	47	64					0	0	1	0	0	T	64573758	C	T	64573758	3	4	8	1	0	0	0	0	1	0	0	0	9522	768	27	1	853	1	MEN1	11	64573758	Missense_Mutation	SNP	C	TCGA-CS-5394-01A-01D-1468-08		64573758	70432758	15	323											
FOLH1B	219595	broad.mit.edu	37	11	89405323	89405326	+	RNA	DEL	TTTA	TTTA	-	rs34562444		TCGA-CS-5394-01A-01D-1468-08	TCGA-CS-5394-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e67f766-3799-4ce1-8c9c-d966d96302bf	ed3dfb55-5905-4bb2-a497-276c2d8b43d2	g.chr11:89405323_89405326delTTTA	ENST00000532352.1	+	0	1114							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B						proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						aattatattgtttatttatttttg	0.23													7	7	---	---	---	---						-	89405326	TTTA	-	89405323	6	5	8	0	1	1	0	1	0	0	0	0	6013	1740	60	0		0	FOLH1B	11	89405323	RNA	DEL	TTTA	TCGA-CS-5394-01A-01D-1468-08	24831565	89405323	45601193	16	324											
MTUS2	23281	broad.mit.edu	37	13	29600879	29600879	+	Missense_Mutation	SNP	G	G	A			TCGA-CS-5394-01A-01D-1468-08	TCGA-CS-5394-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e67f766-3799-4ce1-8c9c-d966d96302bf	ed3dfb55-5905-4bb2-a497-276c2d8b43d2	g.chr13:29600879G>A	ENST00000431530.3	+	1	2132	c.2074G>A	c.(2074-2076)Gag>Aag	p.E692K		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	682	Mediates interaction with MAPRE1.					cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						TCCCCACGAAGAGAAGGCAGC	0.587													16	20					0	0	1	0	0	A	29600879	G	A	29600879	3	1	8	1	0	0	0	0	1	0	0	0	10014	943	33	2	2076	2	MTUS2	13	29600879	Missense_Mutation	SNP	G	TCGA-CS-5394-01A-01D-1468-08		29600879	85568999	17	325											
CPNE6	9362	broad.mit.edu	37	14	24543956	24543956	+	Silent	SNP	C	C	T	rs149746359		TCGA-CS-5394-01A-01D-1468-08	TCGA-CS-5394-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e67f766-3799-4ce1-8c9c-d966d96302bf	ed3dfb55-5905-4bb2-a497-276c2d8b43d2	g.chr14:24543956C>T	ENST00000397016.2	+	8	935	c.624C>T	c.(622-624)cgC>cgT	p.R208R	CPNE6_ENST00000537691.1_Silent_p.R263R|CPNE6_ENST00000216775.2_Silent_p.R208R	NM_001280558.1	NP_001267487.1	O95741	CPNE6_HUMAN	copine VI (neuronal)	208	C2 2.				lipid metabolic process|nervous system development|synaptic transmission|vesicle-mediated transport		calcium ion binding|transporter activity			endometrium(4)|large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	22				GBM - Glioblastoma multiforme(265;0.0184)		AGCCGTTCCGCCTGTCCCTGC	0.552													3	25					0	0	1	0	0	T	24543956	C	T	24543956	2	4	8	1	0	0	0	0	0	0	0	1	3839	726	26	2		2	CPNE6	14	24543956	Silent	SNP	C	TCGA-CS-5394-01A-01D-1468-08		24543956	82805584	18	326											
AKAP6	9472	broad.mit.edu	37	14	33293788	33293788	+	Missense_Mutation	SNP	G	G	A	rs140237441	byFrequency	TCGA-CS-5394-01A-01D-1468-08	TCGA-CS-5394-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e67f766-3799-4ce1-8c9c-d966d96302bf	ed3dfb55-5905-4bb2-a497-276c2d8b43d2	g.chr14:33293788G>A	ENST00000280979.4	+	13	6939	c.6769G>A	c.(6769-6771)Gga>Aga	p.G2257R	AKAP6_ENST00000557272.1_Intron	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	2257					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding	p.G2257R(1)		NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		GGAAAGTTCCGGAAAACCAGG	0.438													27	35					0	0	1	0	0	A	33293788	G	A	33293788	3	1	8	1	0	0	0	0	1	0	0	0	452	1117	39	1	6815	1	AKAP6	14	33293788	Missense_Mutation	SNP	G	TCGA-CS-5394-01A-01D-1468-08	8749832	33293788	74055752	19	327											
JKAMP	51528	broad.mit.edu	37	14	59970666	59970666	+	Missense_Mutation	SNP	T	T	A			TCGA-CS-5394-01A-01D-1468-08	TCGA-CS-5394-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e67f766-3799-4ce1-8c9c-d966d96302bf	ed3dfb55-5905-4bb2-a497-276c2d8b43d2	g.chr14:59970666T>A	ENST00000554271.1	+	7	1380	c.854T>A	c.(853-855)gTg>gAg	p.V285E	JKAMP_ENST00000425728.2_Missense_Mutation_p.V265E|JKAMP_ENST00000356057.5_Missense_Mutation_p.V279E|RP11-701B16.2_ENST00000554253.1_RNA|JKAMP_ENST00000261247.9_Missense_Mutation_p.V271E	NM_001284201.1	NP_001271130.1	Q9P055	JKAMP_HUMAN	JNK1/MAPK8-associated membrane protein	286					ER-associated protein catabolic process|response to unfolded protein	endoplasmic reticulum membrane|integral to membrane	ubiquitin protein ligase binding			breast(1)|endometrium(1)|kidney(1)|lung(3)	6						ATTTCCAGAGTGGATAAACTT	0.398													24	32					0	0	1	0	0	A	59970666	T	A	59970666	3	1	8	1	0	0	0	0	1	0	0	0	7993	1696	59	5	838	5	JKAMP	14	59970666	Missense_Mutation	SNP	T	TCGA-CS-5394-01A-01D-1468-08	26676878	59970666	47378874	20	328	1	2									
JKAMP	51528	broad.mit.edu	37	14	59970667	59970667	+	Silent	SNP	G	G	A			TCGA-CS-5394-01A-01D-1468-08	TCGA-CS-5394-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e67f766-3799-4ce1-8c9c-d966d96302bf	ed3dfb55-5905-4bb2-a497-276c2d8b43d2	g.chr14:59970667G>A	ENST00000554271.1	+	7	1381	c.855G>A	c.(853-855)gtG>gtA	p.V285V	JKAMP_ENST00000425728.2_Silent_p.V265V|JKAMP_ENST00000356057.5_Silent_p.V279V|RP11-701B16.2_ENST00000554253.1_RNA|JKAMP_ENST00000261247.9_Silent_p.V271V	NM_001284201.1	NP_001271130.1	Q9P055	JKAMP_HUMAN	JNK1/MAPK8-associated membrane protein	286					ER-associated protein catabolic process|response to unfolded protein	endoplasmic reticulum membrane|integral to membrane	ubiquitin protein ligase binding			breast(1)|endometrium(1)|kidney(1)|lung(3)	6						TTTCCAGAGTGGATAAACTTG	0.398													24	32					0	0	1	0	0	A	59970667	G	A	59970667	2	1	8	1	0	0	0	0	0	0	0	1	7993	1335	47	2		2	JKAMP	14	59970667	Silent	SNP	G	TCGA-CS-5394-01A-01D-1468-08	1	59970667	47378873	21	329	1	2									
RYR3	6263	broad.mit.edu	37	15	33822854	33822854	+	Missense_Mutation	SNP	C	C	G			TCGA-CS-5394-01A-01D-1468-08	TCGA-CS-5394-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e67f766-3799-4ce1-8c9c-d966d96302bf	ed3dfb55-5905-4bb2-a497-276c2d8b43d2	g.chr15:33822854C>G	ENST00000389232.4	+	4	411	c.341C>G	c.(340-342)tCt>tGt	p.S114C	RYR3_ENST00000415757.3_Missense_Mutation_p.S114C	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	114	MIR 1.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CTGAGGCACTCTTTCAGCGGA	0.512													7	10					0	0	1	0	0	G	33822854	C	G	33822854	3	3	8	1	0	0	0	0	1	0	0	0	13822	913	32	4	355	4	RYR3	15	33822854	Missense_Mutation	SNP	C	TCGA-CS-5394-01A-01D-1468-08		33822854	68708538	22	330											
MFAP1	4236	broad.mit.edu	37	15	44109449	44109449	+	Missense_Mutation	SNP	T	T	C			TCGA-CS-5394-01A-01D-1468-08	TCGA-CS-5394-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e67f766-3799-4ce1-8c9c-d966d96302bf	ed3dfb55-5905-4bb2-a497-276c2d8b43d2	g.chr15:44109449T>C	ENST00000267812.3	-	2	509	c.277A>G	c.(277-279)Att>Gtt	p.I93V		NM_005926.2	NP_005917.2	P55081	MFAP1_HUMAN	microfibrillar-associated protein 1	93						microfibril				breast(2)|endometrium(1)|kidney(1)|lung(6)|skin(2)|upper_aerodigestive_tract(3)	15		all_cancers(109;7.57e-15)|all_epithelial(112;3.51e-12)|Lung NSC(122;4.72e-08)|all_lung(180;4.9e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.33e-07)		TCTTCACTAATACGGTTCTGT	0.398													32	61					0	0	1	0	0	C	44109449	T	C	44109449	3	2	8	1	0	0	0	0	1	0	0	0	9563	1406	49	3	1074	3	MFAP1	15	44109449	Missense_Mutation	SNP	T	TCGA-CS-5394-01A-01D-1468-08	10286595	44109449	58421943	23	331											
CIC	23152	broad.mit.edu	37	19	42798786	42798787	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CS-5394-01A-01D-1468-08	TCGA-CS-5394-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e67f766-3799-4ce1-8c9c-d966d96302bf	ed3dfb55-5905-4bb2-a497-276c2d8b43d2	g.chr19:42798786_42798787insA	ENST00000572681.2	+	20	7144_7145	c.7076_7077insA	c.(7075-7080)ctagagfs	p.E2360fs	CIC_ENST00000160740.3_Frame_Shift_Ins_p.E1452fs|CIC_ENST00000575354.2_Frame_Shift_Ins_p.E1454fs			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	1454					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CTTGGGGAGCTAGAGTATGACA	0.644			"Mis, F, S"		oligodendroglioma								25	14	---	---	---	---						A	42798787	-	A	42798786	7	5	8	1	0	1	1	0	0	0	0	0	3446	1522	53	0	4432	0	CIC	19	42798786	Frame_Shift_Ins	INS	-	TCGA-CS-5394-01A-01D-1468-08		42798786	16330197	24	332											
SULF2	55959	broad.mit.edu	37	20	46305256	46305256	+	Silent	SNP	C	C	A			TCGA-CS-5394-01A-01D-1468-08	TCGA-CS-5394-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e67f766-3799-4ce1-8c9c-d966d96302bf	ed3dfb55-5905-4bb2-a497-276c2d8b43d2	g.chr20:46305256C>A	ENST00000359930.4	-	10	2213	c.1362G>T	c.(1360-1362)gcG>gcT	p.A454A	SULF2_ENST00000484875.1_Silent_p.A454A|SULF2_ENST00000361612.4_Silent_p.A454A|SULF2_ENST00000467815.1_Silent_p.A454A	NM_018837.3	NP_061325.1	Q8IWU5	SULF2_HUMAN	sulfatase 2	454					bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						GCTGCTCACACGCCGTCTGGT	0.612													5	5					0.0215528	0.0219376	1	1	0	A	46305256	C	A	46305256	2	1	8	1	0	0	0	0	0	0	0	1	15427	523	19	5		5	SULF2	20	46305256	Silent	SNP	C	TCGA-CS-5394-01A-01D-1468-08		46305256	16720264	25	333											
LSM14B	149986	broad.mit.edu	37	20	60701373	60701373	+	Missense_Mutation	SNP	C	C	G			TCGA-CS-5394-01A-01D-1468-08	TCGA-CS-5394-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e67f766-3799-4ce1-8c9c-d966d96302bf	ed3dfb55-5905-4bb2-a497-276c2d8b43d2	g.chr20:60701373C>G	ENST00000253001.4	+	3	511	c.305C>G	c.(304-306)tCt>tGt	p.S102C	LSM14B_ENST00000279068.6_Missense_Mutation_p.S102C|LSM14B_ENST00000370915.1_Missense_Mutation_p.S102C			Q9BX40	LS14B_HUMAN	LSM14B, SCD6 homolog B (S. cerevisiae)	102					multicellular organismal development|regulation of translation	ribonucleoprotein complex				endometrium(3)|kidney(1)|lung(4)	8	Breast(26;3.97e-09)		BRCA - Breast invasive adenocarcinoma(19;1.28e-07)			TCCCTGGGTTCTGCCTCCGCC	0.657													15	14					0	0	1	0	0	G	60701373	C	G	60701373	3	3	8	1	0	0	0	0	1	0	0	0	9100	913	32	4	315	4	LSM14B	20	60701373	Missense_Mutation	SNP	C	TCGA-CS-5394-01A-01D-1468-08	14396117	60701373	2324147	26	334											
BAGE2	85319	broad.mit.edu	37	21	11085907	11085912	+	RNA	DEL	CACCAT	CACCAT	-	rs76096695	by1000genomes	TCGA-CS-5394-01A-01D-1468-08	TCGA-CS-5394-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e67f766-3799-4ce1-8c9c-d966d96302bf	ed3dfb55-5905-4bb2-a497-276c2d8b43d2	g.chr21:11085907_11085912delCACCAT	ENST00000470054.1	-	0	324									B melanoma antigen family, member 2															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)		ccaccatcaccaccatcaccactacc	0.558													2	4	---	---	---	---						-	11085912	CACCAT	-	11085907	6	5	8	0	1	1	0	1	0	0	0	0	1290	609	21	0		0	BAGE2	21	11085907	RNA	DEL	CACCAT	TCGA-CS-5394-01A-01D-1468-08		11085907	37043988	27	335											
MED14	9282	broad.mit.edu	37	X	40572233	40572233	+	Silent	SNP	T	T	C			TCGA-CS-5394-01A-01D-1468-08	TCGA-CS-5394-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e67f766-3799-4ce1-8c9c-d966d96302bf	ed3dfb55-5905-4bb2-a497-276c2d8b43d2	g.chrX:40572233T>C	ENST00000324817.1	-	6	832	c.714A>G	c.(712-714)ggA>ggG	p.G238G		NM_004229.3	NP_004220.2	O60244	MED14_HUMAN	mediator complex subunit 14	238	Interaction with STAT2.				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			NS(2)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CAGGGTCATCTCCCATCACAG	0.383													15	6					0	0	1	0	0	C	40572233	T	C	40572233	2	2	8	1	0	0	0	0	0	0	0	1	9482	1538	54	3		3	MED14	23	40572233	Silent	SNP	T	TCGA-CS-5394-01A-01D-1468-08		40572233	114698327	28	336											
USP24	23358	broad.mit.edu	37	1	55638164	55638164	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr1:55638164C>T	ENST00000294383.6	-	4	587	c.588G>A	c.(586-588)tgG>tgA	p.W196*	USP24_ENST00000407756.1_Nonsense_Mutation_p.W84*	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN	ubiquitin specific peptidase 24	196					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						TTTCAGTACCCCACTTGTGAA	0.368													18	70					0	0	0.624587	0	0	T	55638164	C	T	55638164	4	4	9	1	0	0	0	0	0	1	0	0	17115	624	22	2	7534	2	USP24	1	55638164	Nonsense_Mutation	SNP	C	TCGA-CS-5395-01A-01D-1468-08		55638164	193612457	1	337											
PDE4DIP	9659	broad.mit.edu	37	1	144879311	144879311	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr1:144879311C>T	ENST00000369359.4	-	30	4585	c.4547G>A	c.(4546-4548)cGg>cAg	p.R1516Q	PDE4DIP_ENST00000313382.9_Missense_Mutation_p.R1336Q|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.R1516Q|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.R1380Q|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.R1380Q|PDE4DIP_ENST00000524974.1_5'UTR			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1380					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TGAGAGGGACCGGACCCGGCT	0.498			T	PDGFRB	MPD								4	298					0	0	0.150653	0	0	T	144879311	C	T	144879311	3	4	9	1	0	0	0	0	1	0	0	0	11690	652	23	1	2973	1	PDE4DIP	1	144879311	Missense_Mutation	SNP	C	TCGA-CS-5395-01A-01D-1468-08	89241147	144879311	104371310	2	338											
CD1A	909	broad.mit.edu	37	1	158226760	158226760	+	Silent	SNP	C	C	T			TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr1:158226760C>T	ENST00000289429.5	+	4	1322	c.789C>T	c.(787-789)cgC>cgT	p.R263R		NM_001763.2	NP_001754.2	P06126	CD1A_HUMAN	CD1a molecule	263	Ig-like.				antigen processing and presentation|immune response	endosome membrane|integral to plasma membrane|MHC class I protein complex		p.R263R(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	32	all_hematologic(112;0.0378)				Antithymocyte globulin(DB00098)	GGTATCTCCGCGCAACCCTGG	0.632													66	95					0	0	0.870114	0	0	T	158226760	C	T	158226760	2	4	9	1	0	0	0	0	0	0	0	1	2996	755	27	1		1	CD1A	1	158226760	Silent	SNP	C	TCGA-CS-5395-01A-01D-1468-08	13347449	158226760	91023861	3	339											
LY9	4063	broad.mit.edu	37	1	160783596	160783596	+	Missense_Mutation	SNP	G	G	A			TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr1:160783596G>A	ENST00000368037.5	+	3	739	c.625G>A	c.(625-627)Gtc>Atc	p.V209I	LY9_ENST00000341032.4_Missense_Mutation_p.V209I|LY9_ENST00000471816.1_3'UTR|LY9_ENST00000368040.1_5'UTR|LY9_ENST00000263285.6_Missense_Mutation_p.V209I|LY9_ENST00000392203.4_Missense_Mutation_p.V209I|LY9_ENST00000368041.2_Missense_Mutation_p.V169I	NM_001261456.1|NM_002348.3	NP_001248385.1|NP_002339.2	Q9HBG7	LY9_HUMAN	lymphocyte antigen 9		Ig-like C2-type 1.				cell adhesion|immunoglobulin mediated immune response	integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			CATTCTTACCGTCTCCCGAAC	0.562													8	273					0	0	0.27861	0	0	A	160783596	G	A	160783596	3	1	9	1	0	0	0	0	1	0	0	0	9147	1145	40	1	767	1	LY9	1	160783596	Missense_Mutation	SNP	G	TCGA-CS-5395-01A-01D-1468-08	2556836	160783596	88467025	4	340											
DDR2	4921	broad.mit.edu	37	1	162741843	162741843	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr1:162741843C>T	ENST00000367922.3	+	14	1972	c.1534C>T	c.(1534-1536)Ccc>Tcc	p.P512S	DDR2_ENST00000367921.3_Missense_Mutation_p.P512S	NM_001014796.1	NP_001014796.1	Q16832	DDR2_HUMAN	discoidin domain receptor tyrosine kinase 2						cell adhesion	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(2)|kidney(1)|lung(2)|ovary(1)|skin(1)	7	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.113)			GCCAGTCCAGCCCAGTGGCCC	0.577													11	16					0	0	0.411799	0	0	T	162741843	C	T	162741843	3	4	9	1	0	0	0	0	1	0	0	0	4360	739	26	2	1576	2	DDR2	1	162741843	Missense_Mutation	SNP	C	TCGA-CS-5395-01A-01D-1468-08	1958247	162741843	86508778	5	341											
OBSCN	84033	broad.mit.edu	37	1	228431148	228431148	+	Missense_Mutation	SNP	T	T	C			TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr1:228431148T>C	ENST00000570156.2	+	11	3544	c.3470T>C	c.(3469-3471)cTg>cCg	p.L1157P	OBSCN_ENST00000284548.11_Missense_Mutation_p.L1065P|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000422127.1_Missense_Mutation_p.L1065P	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	95	Ig-like 11.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				TCCTTCCGCCTGCACATCACA	0.547													11	16					0	0	0.361761	0	0	C	228431148	T	C	228431148	3	2	9	1	0	0	0	0	1	0	0	0	10860	1580	55	3	3228	3	OBSCN	1	228431148	Missense_Mutation	SNP	T	TCGA-CS-5395-01A-01D-1468-08	65689305	228431148	20819473	6	342											
ALK	238	broad.mit.edu	37	2	29456477	29456477	+	Missense_Mutation	SNP	C	C	A			TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr2:29456477C>A	ENST00000389048.3	-	14	3347	c.2441G>T	c.(2440-2442)tGg>tTg	p.W814L	ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	814					protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	GCCTCCTGCCCACTCATGCAC	0.483			"T, Mis, A"	"NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"	"ALCL, NSCLC, Neuroblastoma"	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				4	196					0.00909568	0.0100052	0.150653	1	0	A	29456477	C	A	29456477	3	1	9	1	0	0	0	0	1	0	0	0	521	595	21	5	2485	5	ALK	2	29456477	Missense_Mutation	SNP	C	TCGA-CS-5395-01A-01D-1468-08		29456477	213742896	7	343											
SLC30A6	55676	broad.mit.edu	37	2	32422896	32422896	+	Splice_Site	DEL	G	G	-			TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr2:32422896delG	ENST00000282587.5	+	10	702		c.e10+1		SLC30A6_ENST00000406369.1_Splice_Site|SLC30A6_ENST00000379343.2_Splice_Site|SLC30A6_ENST00000435660.1_Splice_Site|SLC30A6_ENST00000538303.1_Splice_Site|SLC30A6_ENST00000357055.3_Splice_Site	NM_017964.3	NP_060434.2	Q6NXT4	ZNT6_HUMAN	solute carrier family 30 (zinc transporter), member 6							Golgi membrane|integral to membrane	zinc ion transmembrane transporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(4)|lung(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					TTGAAATTAAGTGAGTATTTT	0.373													47	92	---	---	---	---						-	32422896	G	-	32422896	8	5	9	1	0	1	0	1	0	0	1	0	14614	1043	36	0	704	0	SLC30A6	2	32422896	Splice_Site	DEL	G	TCGA-CS-5395-01A-01D-1468-08	2966419	32422896	210776477	8	344											
COL6A3	1293	broad.mit.edu	37	2	238249727	238249727	+	Missense_Mutation	SNP	G	G	A	rs114806654	by1000genomes	TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr2:238249727G>A	ENST00000295550.4	-	38	8284	c.7832C>T	c.(7831-7833)gCg>gTg	p.A2611V	COL6A3_ENST00000353578.4_Missense_Mutation_p.A2405V|COL6A3_ENST00000472056.1_Missense_Mutation_p.A2004V|COL6A3_ENST00000409809.1_Missense_Mutation_p.A2405V|COL6A3_ENST00000347401.3_Missense_Mutation_p.A2410V|COL6A3_ENST00000346358.4_Missense_Mutation_p.A2411V	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	2611	Nonhelical region.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	p.A2611E(1)		breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GCTCCCTGCCGCTCTCCTGTC	0.512													76	118					0	0	0.870114	0	0	A	238249727	G	A	238249727	3	1	9	1	0	0	0	0	1	0	0	0	3724	1087	38	1	1729	1	COL6A3	2	238249727	Missense_Mutation	SNP	G	TCGA-CS-5395-01A-01D-1468-08	205826831	238249727	4949646	9	345											
ATP2B2	491	broad.mit.edu	37	3	10452378	10452378	+	Silent	SNP	C	C	T			TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr3:10452378C>T	ENST00000397077.1	-	5	896	c.321G>A	c.(319-321)acG>acA	p.T107T	ATP2B2_ENST00000352432.4_Silent_p.T107T|ATP2B2_ENST00000383800.4_Silent_p.T107T|ATP2B2_ENST00000360273.2_Silent_p.T107T|ATP2B2_ENST00000343816.4_Silent_p.T107T			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	107					ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						GGATGATGAGCGTCACGTCCT	0.552													8	355					0	0	0.27861	0	0	T	10452378	C	T	10452378	2	4	9	1	0	0	0	0	0	0	0	1	1139	755	27	1		1	ATP2B2	3	10452378	Silent	SNP	C	TCGA-CS-5395-01A-01D-1468-08		10452378	187570052	10	346											
SEMA3F	6405	broad.mit.edu	37	3	50225347	50225347	+	Silent	SNP	C	C	T			TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr3:50225347C>T	ENST00000002829.3	+	19	2641	c.2157C>T	c.(2155-2157)ggC>ggT	p.G719G	SEMA3F_ENST00000413852.1_Silent_p.G620G|SEMA3F_ENST00000434342.1_Silent_p.G688G	NM_004186.3	NP_004177.3	Q13275	SEM3F_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F	719					axon guidance	extracellular space|membrane	chemorepellent activity|receptor activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2)	17				BRCA - Breast invasive adenocarcinoma(193;0.00013)|KIRC - Kidney renal clear cell carcinoma(197;0.00599)|Kidney(197;0.00688)		CACCCCCAGGCGCAGGCCCCC	0.667													10	10					0	0	0.361761	0	0	T	50225347	C	T	50225347	2	4	9	1	0	0	0	0	0	0	0	1	14083	755	27	1		1	SEMA3F	3	50225347	Silent	SNP	C	TCGA-CS-5395-01A-01D-1468-08	39772969	50225347	147797083	11	347											
KPNA4	3840	broad.mit.edu	37	3	160239655	160239655	+	Missense_Mutation	SNP	G	G	A			TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr3:160239655G>A	ENST00000334256.4	-	11	1120	c.815C>T	c.(814-816)gCt>gTt	p.A272V		NM_002268.4	NP_002259.1	O00629	IMA4_HUMAN	karyopherin alpha 4 (importin alpha 3)	272					NLS-bearing substrate import into nucleus	cytoplasm|nuclear pore	protein binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)	22			Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216)			TTCATTGCCAGCATCAGTAAG	0.353													4	243					0	0	0.150653	0	0	A	160239655	G	A	160239655	3	1	9	1	0	0	0	0	1	0	0	0	8475	971	34	2	778	2	KPNA4	3	160239655	Missense_Mutation	SNP	G	TCGA-CS-5395-01A-01D-1468-08	110014308	160239655	37782775	12	348											
PDE6B	5158	broad.mit.edu	37	4	647918	647918	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr4:647918C>T	ENST00000255622.6	+	5	945	c.902C>T	c.(901-903)tCg>tTg	p.S301L	PDE6B_ENST00000496514.1_Missense_Mutation_p.S301L|RP11-1191J2.2_ENST00000468356.1_RNA|RP11-1191J2.2_ENST00000489312.1_RNA|PDE6B_ENST00000429163.2_Missense_Mutation_p.S22L	NM_000283.3|NM_001145291.1	NP_000274.2|NP_001138763	P35913	PDE6B_HUMAN	phosphodiesterase 6B, cGMP-specific, rod, beta	301	GAF 2.				cytosolic calcium ion homeostasis|GMP metabolic process|phototransduction, visible light|platelet activation|visual perception	cytosol|membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30						CAGCCGTACTCGGGCCCACGC	0.647													24	49					0	0	0.760397	0	0	T	647918	C	T	647918	3	4	9	1	0	0	0	0	1	0	0	0	11693	893	31	1	920	1	PDE6B	4	647918	Missense_Mutation	SNP	C	TCGA-CS-5395-01A-01D-1468-08		647918	190506358	13	349											
PITX2	5308	broad.mit.edu	37	4	111539762	111539762	+	Missense_Mutation	SNP	G	G	A			TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr4:111539762G>A	ENST00000354925.2	-	7	2178	c.473C>T	c.(472-474)cCg>cTg	p.P158L	PITX2_ENST00000394595.3_Silent_p.A89A|PITX2_ENST00000355080.5_Missense_Mutation_p.P112L|PITX2_ENST00000394598.2_Missense_Mutation_p.P158L|PITX2_ENST00000556049.1_5'UTR|PITX2_ENST00000306732.3_Missense_Mutation_p.P165L	NM_001204397.1	NP_001191326.1	Q99697	PITX2_HUMAN	paired-like homeodomain 2	158					determination of left/right symmetry|organ morphogenesis	transcription factor complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			breast(1)|endometrium(3)|large_intestine(1)|lung(5)	10		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00222)		ATTGAACTGCGGCCCGAAGCC	0.592													4	102					0	0	0.150653	0	0	A	111539762	G	A	111539762	3	1	9	1	0	0	0	0	1	0	0	0	12003	1116	39	1	484	1	PITX2	4	111539762	Missense_Mutation	SNP	G	TCGA-CS-5395-01A-01D-1468-08	110891844	111539762	79614514	14	350											
EDNRA	1909	broad.mit.edu	37	4	148407184	148407184	+	Silent	SNP	G	G	T			TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr4:148407184G>T	ENST00000324300.5	+	2	866	c.351G>T	c.(349-351)gcG>gcT	p.A117A	EDNRA_ENST00000511804.1_Intron|EDNRA_ENST00000339690.5_Silent_p.A117A|EDNRA_ENST00000358556.4_Silent_p.A117A|EDNRA_ENST00000506066.1_Silent_p.A117A	NM_001957.3	NP_001948.1	P25101	EDNRA_HUMAN	endothelin receptor type A	117					activation of adenylate cyclase activity|artery smooth muscle contraction|cell proliferation|glucose transport|respiratory gaseous exchange	integral to plasma membrane	endothelin-A receptor activity|phosphatidylinositol phospholipase C activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1)	17	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.154)	Bosentan(DB00559)	GCCCCAACGCGCTGATAGCCA	0.423													70	91					2.08929e-35	2.40511e-35	0.870114	1	0	T	148407184	G	T	148407184	2	4	9	1	0	0	0	0	0	0	0	1	4945	1074	38	5		5	EDNRA	4	148407184	Silent	SNP	G	TCGA-CS-5395-01A-01D-1468-08	36867422	148407184	42747092	15	351											
TRIP13	9319	broad.mit.edu	37	5	908507	908507	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr5:908507C>T	ENST00000166345.3	+	9	1153	c.797C>T	c.(796-798)gCg>gTg	p.A266V		NM_004237.3	NP_004228.1	Q15645	PCH2_HUMAN	thyroid hormone receptor interactor 13	266					double-strand break repair|reciprocal meiotic recombination|synaptonemal complex assembly|transcription from RNA polymerase II promoter		ATP binding|identical protein binding|nucleoside-triphosphatase activity|transcription cofactor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	18			Epithelial(17;0.00147)|OV - Ovarian serous cystadenocarcinoma(19;0.00271)|all cancers(22;0.00622)|Lung(60;0.165)			GCCTGCAGGGCGGGCACCGAG	0.562													46	69					0	0	0.870114	0	0	T	908507	C	T	908507	3	4	9	1	0	0	0	0	1	0	0	0	16618	768	27	1	831	1	TRIP13	5	908507	Missense_Mutation	SNP	C	TCGA-CS-5395-01A-01D-1468-08		908507	180006753	16	352											
CDH12	1010	broad.mit.edu	37	5	21817101	21817101	+	Missense_Mutation	SNP	T	T	G			TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr5:21817101T>G	ENST00000382254.1	-	9	2041	c.955A>C	c.(955-957)Atc>Ctc	p.I319L	CDH12_ENST00000522262.1_Missense_Mutation_p.I279L|CDH12_ENST00000504376.2_Missense_Mutation_p.I319L|CDH12_ENST00000521384.1_5'UTR	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	319	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						TCTGTGACGATGTCAAACAAA	0.348										HNSCC(59;0.17)			7	295					0	0	0.27861	0	0	G	21817101	T	G	21817101	3	3	9	1	0	0	0	0	1	0	0	0	3120	1464	51	4	1457	4	CDH12	5	21817101	Missense_Mutation	SNP	T	TCGA-CS-5395-01A-01D-1468-08	20908594	21817101	159098159	17	353											
TRPC7	57113	broad.mit.edu	37	5	135610458	135610458	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr5:135610458C>T	ENST00000513104.1	-	4	1313	c.1031G>A	c.(1030-1032)cGt>cAt	p.R344H	TRPC7_ENST00000355180.3_Missense_Mutation_p.R283H|TRPC7_ENST00000426057.2_Intron	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	344					axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding	p.R344H(2)		NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			AGACTGTTGACGTAAGCCTGA	0.438													9	20					0	0	0.307466	0	0	T	135610458	C	T	135610458	3	4	9	1	0	0	0	0	1	0	0	0	16645	536	19	1	1593	1	TRPC7	5	135610458	Missense_Mutation	SNP	C	TCGA-CS-5395-01A-01D-1468-08	113793357	135610458	45304802	18	354											
PCDHGA2	56113	broad.mit.edu	37	5	140719281	140719281	+	Missense_Mutation	SNP	G	G	A			TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr5:140719281G>A	ENST00000394576.2	+	1	743	c.743G>A	c.(742-744)cGc>cAc	p.R248H	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1														breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCGAGTACCGCATAAGCATT	0.557													4	152					0	0	0.150653	0	0	A	140719281	G	A	140719281	3	1	9	1	0	0	0	0	1	0	0	0	11601	1087	38	1	745	1	PCDHGA2	5	140719281	Missense_Mutation	SNP	G	TCGA-CS-5395-01A-01D-1468-08	5108823	140719281	40195979	19	355											
ATP10B	23120	broad.mit.edu	37	5	160025790	160025790	+	Missense_Mutation	SNP	C	C	A			TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr5:160025790C>A	ENST00000327245.5	-	22	4397	c.3551G>T	c.(3550-3552)gGc>gTc	p.G1184V		NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	1184					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AGAGTTCTGGCCACTCTTGTA	0.502													193	275					8.57144e-96	1.03484e-95	0.870114	1	0	A	160025790	C	A	160025790	3	1	9	1	0	0	0	0	1	0	0	0	1116	739	26	5	854	5	ATP10B	5	160025790	Missense_Mutation	SNP	C	TCGA-CS-5395-01A-01D-1468-08	19306509	160025790	20889470	20	356											
PKHD1	5314	broad.mit.edu	37	6	51613287	51613287	+	Missense_Mutation	SNP	C	C	A			TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr6:51613287C>A	ENST00000371117.3	-	58	9402	c.9127G>T	c.(9127-9129)Gtg>Ttg	p.V3043L	PKHD1_ENST00000340994.4_Missense_Mutation_p.V3043L	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	3043					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)					GTGCCAAACACAATATTGTCA	0.493													46	45					1.76056e-25	2.00339e-25	0.859065	1	0	A	51613287	C	A	51613287	3	1	9	1	0	0	0	0	1	0	0	0	12019	478	17	5	3176	5	PKHD1	6	51613287	Missense_Mutation	SNP	C	TCGA-CS-5395-01A-01D-1468-08		51613287	119501780	21	357											
PKHD1	5314	broad.mit.edu	37	6	51892973	51892973	+	Missense_Mutation	SNP	C	C	A			TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr6:51892973C>A	ENST00000371117.3	-	30	3816	c.3541G>T	c.(3541-3543)Gtc>Ttc	p.V1181F	PKHD1_ENST00000340994.4_Missense_Mutation_p.V1181F	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	1181	IPT/TIG 6; atypical.				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)					TGAATGCTGACCCCATTGATA	0.498													124	212					8.80896e-55	1.0382e-54	0.870114	1	0	A	51892973	C	A	51892973	3	1	9	1	0	0	0	0	1	0	0	0	12019	507	18	5	8874	5	PKHD1	6	51892973	Missense_Mutation	SNP	C	TCGA-CS-5395-01A-01D-1468-08	279686	51892973	119222094	22	358											
PHF3	23469	broad.mit.edu	37	6	64422637	64422637	+	Missense_Mutation	SNP	T	T	C			TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr6:64422637T>C	ENST00000262043.3	+	16	5493	c.5153T>C	c.(5152-5154)gTt>gCt	p.V1718A	PHF3_ENST00000393387.1_Missense_Mutation_p.V1718A			Q92576	PHF3_HUMAN	PHD finger protein 3	1718					multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			AATTTAAAAGTTGCACAAAAC	0.368													3	100					0	0	0.115264	0	0	C	64422637	T	C	64422637	3	2	9	1	0	0	0	0	1	0	0	0	11884	1725	60	3	5211	3	PHF3	6	64422637	Missense_Mutation	SNP	T	TCGA-CS-5395-01A-01D-1468-08	12529664	64422637	106692430	23	359											
COL19A1	1310	broad.mit.edu	37	6	70866054	70866054	+	Silent	SNP	G	G	A			TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr6:70866054G>A	ENST00000322773.4	+	32	2217	c.2115G>A	c.(2113-2115)ggG>ggA	p.G705G	COL19A1_ENST00000393344.1_Silent_p.G327G	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	705	Triple-helical region 4 (COL4).				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						GTGTCCCAGGGCTGAAAAGCA	0.473													39	48					0	0	0.847076	0	0	A	70866054	G	A	70866054	2	1	9	1	0	0	0	0	0	0	0	1	3699	1190	42	2		2	COL19A1	6	70866054	Silent	SNP	G	TCGA-CS-5395-01A-01D-1468-08	6443417	70866054	100249013	24	360											
CALN1	83698	broad.mit.edu	37	7	71252834	71252834	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr7:71252834C>T	ENST00000395275.2	-	7	1100	c.712G>A	c.(712-714)Gcc>Acc	p.A238T	CALN1_ENST00000431984.1_Missense_Mutation_p.A196T|CALN1_ENST00000405452.2_Missense_Mutation_p.A196T|CALN1_ENST00000412588.1_Missense_Mutation_p.A238T|CALN1_ENST00000395276.2_Missense_Mutation_p.A196T|CALN1_ENST00000329008.5_Missense_Mutation_p.A196T	NM_031468.3	NP_113656.2	Q9BXU9	CABP8_HUMAN	calneuron 1	196						Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane	calcium ion binding			biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(6)|lung(19)|skin(2)	32		all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161)				ATAGCAAAGGCGCATATGAGG	0.567													27	80					0	0	0.681144	0	0	T	71252834	C	T	71252834	3	4	9	1	0	0	0	0	1	0	0	0	2609	768	27	1	77	1	CALN1	7	71252834	Missense_Mutation	SNP	C	TCGA-CS-5395-01A-01D-1468-08		71252834	87885829	25	361											
MGAM	8972	broad.mit.edu	37	7	141770818	141770818	+	Missense_Mutation	SNP	G	G	A			TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr7:141770818G>A	ENST00000475668.2	+	44	5140	c.5086G>A	c.(5086-5088)Gag>Aag	p.E1696K	MGAM_ENST00000549489.2_Intron			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1696	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TGCAAGAGGAGAGTGGAAGAC	0.532													4	103					0	0	0.150653	0	0	A	141770818	G	A	141770818	3	1	9	1	0	0	0	0	1	0	0	0	9591	957	33	2		2	MGAM	7	141770818	Missense_Mutation	SNP	G	TCGA-CS-5395-01A-01D-1468-08	70517984	141770818	17367845	26	362											
ADAM28	10863	broad.mit.edu	37	8	24200636	24200636	+	Missense_Mutation	SNP	T	T	C			TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr8:24200636T>C	ENST00000265769.4	+	17	1963	c.1853T>C	c.(1852-1854)gTg>gCg	p.V618A	RP11-624C23.1_ENST00000518988.1_RNA|RP11-624C23.1_ENST00000523700.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA|ADAM28_ENST00000397649.3_Missense_Mutation_p.V365A	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28	618	Cys-rich.				proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		GCAGAATGTGTGGATATTGAG	0.383													3	90					0	0	0.150653	0	0	C	24200636	T	C	24200636	3	2	9	1	0	0	0	0	1	0	0	0	245	1696	59	3	1975	3	ADAM28	8	24200636	Missense_Mutation	SNP	T	TCGA-CS-5395-01A-01D-1468-08		24200636	122163386	27	363											
ADAM7	8756	broad.mit.edu	37	8	24346749	24346749	+	Missense_Mutation	SNP	T	T	G			TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr8:24346749T>G	ENST00000175238.6	+	12	1252	c.1169T>G	c.(1168-1170)aTg>aGg	p.M390R	RP11-624C23.1_ENST00000519689.1_RNA|ADAM7_ENST00000380789.1_Missense_Mutation_p.M390R|RP11-624C23.1_ENST00000523578.1_RNA|ADAM7_ENST00000520720.1_Missense_Mutation_p.M162R	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN	ADAM metallopeptidase domain 7	390	Peptidase M12B.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		CCAACATGCATGCTCAACATT	0.398													44	72					0	0	0.870114	0	0	G	24346749	T	G	24346749	3	3	9	1	0	0	0	0	1	0	0	0	250	1464	51	4	1215	4	ADAM7	8	24346749	Missense_Mutation	SNP	T	TCGA-CS-5395-01A-01D-1468-08	146113	24346749	122017273	28	364											
FER1L6	654463	broad.mit.edu	37	8	125094698	125094698	+	Splice_Site	SNP	A	A	T			TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr8:125094698A>T	ENST00000522917.1	+	33	4596	c.4390A>T	c.(4390-4392)Ata>Tta	p.I1464L	FER1L6-AS2_ENST00000520031.1_RNA|FER1L6_ENST00000399018.1_Splice_Site_p.I1464L	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	1464						integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			CCAGTATGAGATGTAAGTTCT	0.512													62	103					0	0	0.870114	0	0	T	125094698	A	T	125094698	5	4	9	1	0	0	0	0	0	0	1	0	5848	347	12	4	4516	4	FER1L6	8	125094698	Splice_Site	SNP	A	TCGA-CS-5395-01A-01D-1468-08	100747949	125094698	21269324	29	365											
RFX3	5991	broad.mit.edu	37	9	3270522	3270522	+	Missense_Mutation	SNP	A	A	T			TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr9:3270522A>T	ENST00000382004.3	-	12	1517	c.1206T>A	c.(1204-1206)aaT>aaA	p.N402K	RFX3_ENST00000302303.1_Missense_Mutation_p.N402K|RFX3_ENST00000358730.2_Missense_Mutation_p.N402K	NM_001282116.1|NM_134428.1	NP_001269045.1|NP_602304.1	P48380	RFX3_HUMAN	regulatory factor X, 3 (influences HLA class II expression)	402					cell maturation|ciliary cell motility|cilium assembly|cilium movement involved in determination of left/right asymmetry|endocrine pancreas development|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type B pancreatic cell development|regulation of insulin secretion	nuclear chromatin	protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(11)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(50;0.00124)|Lung(2;0.0337)		TTTCACTCAGATTGCTGGTGT	0.348													3	73					0	0	0.150653	0	0	T	3270522	A	T	3270522	3	4	9	1	0	0	0	0	1	0	0	0	13316	330	12	4	1227	4	RFX3	9	3270522	Missense_Mutation	SNP	A	TCGA-CS-5395-01A-01D-1468-08		3270522	137942909	30	366											
TRPM6	140803	broad.mit.edu	37	9	77377508	77377508	+	Missense_Mutation	SNP	G	G	T			TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr9:77377508G>T	ENST00000451710.3	-	26	4316	c.4079C>A	c.(4078-4080)aCt>aAt	p.T1360N	TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000360774.1_Missense_Mutation_p.T1360N|TRPM6_ENST00000376864.4_Missense_Mutation_p.T1360N|TRPM6_ENST00000361255.3_Missense_Mutation_p.T1355N|TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000449912.2_Missense_Mutation_p.T1355N			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1360					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						AGGCAAGACAGTTTCTGCTGA	0.507													104	160					4.80225e-73	5.72799e-73	0.870114	1	0	T	77377508	G	T	77377508	3	4	9	1	0	0	0	0	1	0	0	0	16651	1029	36	4	2045	4	TRPM6	9	77377508	Missense_Mutation	SNP	G	TCGA-CS-5395-01A-01D-1468-08	74106986	77377508	63835923	31	367											
OR13C5	138799	broad.mit.edu	37	9	107361264	107361264	+	Missense_Mutation	SNP	A	A	C			TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr9:107361264A>C	ENST00000374779.2	-	1	524	c.431T>G	c.(430-432)aTg>aGg	p.M144R		NM_001004482.1	NP_001004482.1	Q8NGS8	O13C5_HUMAN	olfactory receptor, family 13, subfamily C, member 5	144					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(4)	28						CCCAGCTGCCATGGGTACATA	0.473													21	291					0	0	0.681144	0	0	C	107361264	A	C	107361264	3	2	9	1	0	0	0	0	1	0	0	0	10985	217	8	4	527	4	OR13C5	9	107361264	Missense_Mutation	SNP	A	TCGA-CS-5395-01A-01D-1468-08	29983756	107361264	33852167	32	368											
OR13C2	392376	broad.mit.edu	37	9	107367478	107367478	+	Missense_Mutation	SNP	A	A	C			TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr9:107367478A>C	ENST00000542196.1	-	1	473	c.431T>G	c.(430-432)aTg>aGg	p.M144R		NM_001004481.1	NP_001004481.1	Q8NGS9	O13C2_HUMAN	olfactory receptor, family 13, subfamily C, member 2	144					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						CCCAGCTGCCATGGGTACATA	0.468													32	99					0	0	0.847076	0	0	C	107367478	A	C	107367478	3	2	9	1	0	0	0	0	1	0	0	0	10982	217	8	4	528	4	OR13C2	9	107367478	Missense_Mutation	SNP	A	TCGA-CS-5395-01A-01D-1468-08	6214	107367478	33845953	33	369											
SVEP1	79987	broad.mit.edu	37	9	113217968	113217968	+	Missense_Mutation	SNP	G	G	C			TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr9:113217968G>C	ENST00000401783.2	-	22	4025	c.3689C>G	c.(3688-3690)aCa>aGa	p.T1230R	SVEP1_ENST00000302728.8_Missense_Mutation_p.T1230R|SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000374469.1_Missense_Mutation_p.T1207R	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	1230					cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						ATCGATGTCTGTTTCACACTT	0.418													20	33					0	0	0.608945	0	0	C	113217968	G	C	113217968	3	2	9	1	0	0	0	0	1	0	0	0	15476	1377	48	5	7134	5	SVEP1	9	113217968	Missense_Mutation	SNP	G	TCGA-CS-5395-01A-01D-1468-08	5850490	113217968	27995463	34	370											
PTEN	5728	broad.mit.edu	37	10	89711899	89711899	+	Missense_Mutation	SNP	C	C	T	rs121913293		TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr10:89711899C>T	ENST00000371953.3	+	6	1874	c.517C>T	c.(517-519)Cgc>Tgc	p.R173C		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	173	Phosphatase tensin-type.		R -> C (in endometrial hyperplasia; loss of phosphatase activity towards Ins(1,3,4,5)P4 and PtdIns(3,4,5)P3; retains ability to bind phospholipid membranes).|R -> H (loss of phosphatase activity towards Ins(1,3,4,5)P4).|R -> P (loss of phosphatase activity towards Ins(1,3,4,5)P4).		activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.R173C(32)|p.R55fs*1(5)|p.?(4)|p.V166fs*17(3)|p.G165fs*9(3)|p.R173fs*10(2)|p.Y27fs*1(2)|p.G165_*404del(1)|p.R172fs*5(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		CAGTCAGAGGCGCTATGTGTA	0.348	R173C(REH_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			73	51					0	0	0.870114	0	0	T	89711899	C	T	89711899	3	4	9	1	0	0	0	0	1	0	0	0	12787	768	27	1	539	1	PTEN	10	89711899	Missense_Mutation	SNP	C	TCGA-CS-5395-01A-01D-1468-08		89711899	45822848	35	371											
NUP160	23279	broad.mit.edu	37	11	47809761	47809761	+	Missense_Mutation	SNP	G	G	A			TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr11:47809761G>A	ENST00000378460.2	-	31	3765	c.3719C>T	c.(3718-3720)aCg>aTg	p.T1240M	NUP160_ENST00000530326.1_Missense_Mutation_p.T1126M	NM_015231.1	NP_056046.1	Q12769	NU160_HUMAN	nucleoporin 160kDa	1240					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding	p.T1240M(1)		NS(1)|biliary_tract(2)|breast(7)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(6)|prostate(2)|skin(2)|urinary_tract(2)	53						AAAGACTGGCGTTAAGGGAAG	0.398													28	45					0	0	0.729181	0	0	A	47809761	G	A	47809761	3	1	9	1	0	0	0	0	1	0	0	0	10805	1145	40	1	615	1	NUP160	11	47809761	Missense_Mutation	SNP	G	TCGA-CS-5395-01A-01D-1468-08		47809761	87196755	36	372											
VWF	7450	broad.mit.edu	37	12	6219737	6219737	+	Missense_Mutation	SNP	G	G	A			TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr12:6219737G>A	ENST00000261405.5	-	5	589	c.335C>T	c.(334-336)cCc>cTc	p.P112L	VWF_ENST00000572068.1_Missense_Mutation_p.P149L	NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	112	VWFD 1.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	GGAGGCATAGGGCATGGAGAC	0.537													4	136					0	0	0.150653	0	0	A	6219737	G	A	6219737	3	1	9	1	0	0	0	0	1	0	0	0	17306	1232	43	2	8298	2	VWF	12	6219737	Missense_Mutation	SNP	G	TCGA-CS-5395-01A-01D-1468-08		6219737	127632158	37	373											
MYL6	4637	broad.mit.edu	37	12	56553401	56553401	+	Missense_Mutation	SNP	G	G	A			TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr12:56553401G>A	ENST00000551589.1	+	3	95	c.62G>A	c.(61-63)cGa>cAa	p.R21Q	MYL6_ENST00000550697.1_Missense_Mutation_p.R21Q|MYL6_ENST00000547408.1_Missense_Mutation_p.R21Q|MYL6_ENST00000549566.1_Intron|MYL6_ENST00000548400.1_Missense_Mutation_p.R21Q|MYL6_ENST00000548580.1_Intron|MYL6_ENST00000548293.1_Missense_Mutation_p.R21Q|MYL6_ENST00000547649.1_Missense_Mutation_p.R21Q|MYL6_ENST00000348108.4_Missense_Mutation_p.R22Q|MYL6_ENST00000549017.1_5'UTR|MYL6_ENST00000293422.5_Missense_Mutation_p.R22Q|MYL6_ENST00000536128.1_Missense_Mutation_p.R114Q			P60660	MYL6_HUMAN	myosin, light chain 6, alkali, smooth muscle and non-muscle	21	EF-hand 1.				axon guidance|muscle filament sliding|skeletal muscle tissue development	cytosol|unconventional myosin complex	actin-dependent ATPase activity|calcium ion binding|motor activity|structural constituent of muscle			large_intestine(1)|lung(1)|ovary(1)|prostate(3)|skin(1)	7			OV - Ovarian serous cystadenocarcinoma(18;0.0979)			CTGTTTGACCGAACAGGTGAT	0.547													4	189					0	0	0.150653	0	0	A	56553401	G	A	56553401	3	1	9	1	0	0	0	0	1	0	0	0	10099	1058	37	1	72	1	MYL6	12	56553401	Missense_Mutation	SNP	G	TCGA-CS-5395-01A-01D-1468-08	50333664	56553401	77298494	38	374											
PTPN11	5781	broad.mit.edu	37	12	112888199	112888199	+	Missense_Mutation	SNP	C	C	A	rs121918454		TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr12:112888199C>A	ENST00000351677.2	+	3	413	c.215C>A	c.(214-216)gCc>gAc	p.A72D	PTPN11_ENST00000392597.1_Missense_Mutation_p.A72D	NM_002834.3	NP_002825.3	Q06124	PTN11_HUMAN	protein tyrosine phosphatase, non-receptor type 11	72	SH2 1.		A -> G (in NS1).|A -> S (in NS1).|A -> T (in JMML).|A -> V (in JMML).		axon guidance|cell junction assembly|ephrin receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|platelet activation|regulation of cell adhesion mediated by integrin|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway	cytosol	non-membrane spanning protein tyrosine phosphatase activity|protein binding	p.A72V(35)|p.A72D(3)		NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(406)|kidney(2)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(3)|stomach(3)	451						GAGAAATTTGCCACTTTGGCT	0.418			Mis		"JMML, AML, MDS"		Noonan Syndrome		Noonan syndrome				74	120					5.32961e-40	6.20743e-40	0.870114	1	0	A	112888199	C	A	112888199	3	1	9	1	0	0	0	0	1	0	0	0	12830	739	26	5	225	5	PTPN11	12	112888199	Missense_Mutation	SNP	C	TCGA-CS-5395-01A-01D-1468-08	56334798	112888199	20963696	39	375											
SUPT16H	11198	broad.mit.edu	37	14	21821703	21821703	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr14:21821703C>T	ENST00000216297.2	-	25	3280	c.2942G>A	c.(2941-2943)gGt>gAt	p.G981D		NM_007192.3	NP_009123.1	Q9Y5B9	SP16H_HUMAN	suppressor of Ty 16 homolog (S. cerevisiae)	981	Glu-rich (acidic).				DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|nucleoplasm	GTP binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(95;0.00115)		Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)		TTCTTCACTACCCAATGACTC	0.373													47	108					0	0	0.870114	0	0	T	21821703	C	T	21821703	3	4	9	1	0	0	0	0	1	0	0	0	15452	507	18	2	209	2	SUPT16H	14	21821703	Missense_Mutation	SNP	C	TCGA-CS-5395-01A-01D-1468-08		21821703	85527837	40	376											
CLEC14A	161198	broad.mit.edu	37	14	38723809	38723809	+	Missense_Mutation	SNP	G	G	T	rs146958080	byFrequency	TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr14:38723809G>T	ENST00000342213.2	-	1	1765	c.1419C>A	c.(1417-1419)gaC>gaA	p.D473E		NM_175060.2	NP_778230.1	Q86T13	CLC14_HUMAN	C-type lectin domain family 14, member A	473						integral to membrane	sugar binding			breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)		CCTCTGCTCTGTCCCGCAGAT	0.572													5	240					0.217242	0.228798	0.217242	1	0	T	38723809	G	T	38723809	3	4	9	1	0	0	0	0	1	0	0	0	3522	1368	48	5	57	5	CLEC14A	14	38723809	Missense_Mutation	SNP	G	TCGA-CS-5395-01A-01D-1468-08	16902106	38723809	68625731	41	377											
C14orf182	283551	broad.mit.edu	37	14	50472373	50472373	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr14:50472373G>A	ENST00000399206.1	-	1	1865	c.145C>T	c.(145-147)Cga>Tga	p.R49*	C14orf182_ENST00000529902.1_5'UTR	NM_001012706.1	NP_001012724.1	A1A4T8	CN182_HUMAN	chromosome 14 open reading frame 182	49								p.R49*(1)		large_intestine(2)|urinary_tract(1)	3						TGTCTGTGTCGTAGAACTGTG	0.527													6	288					0	0	0.217242	0	0	A	50472373	G	A	50472373	4	1	9	1	0	0	0	0	0	1	0	0	1771	1153	40	1	190	1	C14orf182	14	50472373	Nonsense_Mutation	SNP	G	TCGA-CS-5395-01A-01D-1468-08	11748564	50472373	56877167	42	378											
SIPA1L1	26037	broad.mit.edu	37	14	72138006	72138006	+	Missense_Mutation	SNP	G	G	A			TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr14:72138006G>A	ENST00000555818.1	+	8	2774	c.2426G>A	c.(2425-2427)cGc>cAc	p.R809H	SIPA1L1_ENST00000537413.1_Missense_Mutation_p.R284H|SIPA1L1_ENST00000381232.3_Missense_Mutation_p.R809H|SIPA1L1_ENST00000358550.2_Missense_Mutation_p.R809H	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	809	Rap-GAP.				actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		ACTCGGACCCGCCAGGAATAC	0.473													29	49					0	0	0.750413	0	0	A	72138006	G	A	72138006	3	1	9	1	0	0	0	0	1	0	0	0	14384	1087	38	1	2452	1	SIPA1L1	14	72138006	Missense_Mutation	SNP	G	TCGA-CS-5395-01A-01D-1468-08	21665633	72138006	35211534	43	379											
ATP8B4	79895	broad.mit.edu	37	15	50288937	50288937	+	Missense_Mutation	SNP	G	G	A	rs116334504	by1000genomes	TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr15:50288937G>A	ENST00000284509.6	-	9	667	c.526C>T	c.(526-528)Cgc>Tgc	p.R176C	ATP8B4_ENST00000558959.1_5'UTR|ATP8B4_ENST00000559829.1_Missense_Mutation_p.R176C	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	176					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		AGTGCATGGCGGACTTTTAGG	0.398													22	44					0	0	0.639603	0	0	A	50288937	G	A	50288937	3	1	9	1	0	0	0	0	1	0	0	0	1195	1116	39	1	3132	1	ATP8B4	15	50288937	Missense_Mutation	SNP	G	TCGA-CS-5395-01A-01D-1468-08		50288937	52242455	44	380											
CSPG4	1464	broad.mit.edu	37	15	75981730	75981730	+	Missense_Mutation	SNP	T	T	C			TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr15:75981730T>C	ENST00000308508.5	-	3	1768	c.1676A>G	c.(1675-1677)cAt>cGt	p.H559R		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	559	Globular or compact configuration stabilized by disulfide bonds.|Neurite growth inhibition (By similarity).				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						GAGGCTGCCATGTGGGAAGAT	0.612													3	56					0	0	0.150653	0	0	C	75981730	T	C	75981730	3	2	9	1	0	0	0	0	1	0	0	0	3985	1464	51	3	5324	3	CSPG4	15	75981730	Missense_Mutation	SNP	T	TCGA-CS-5395-01A-01D-1468-08	25692793	75981730	26549662	45	381											
SRRM2	23524	broad.mit.edu	37	16	2817587	2817587	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr16:2817587C>T	ENST00000301740.8	+	11	7607	c.7058C>T	c.(7057-7059)gCc>gTc	p.A2353V	SRRM2_ENST00000574593.1_3'UTR	NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	2353	Ala-rich.|Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						GTGAATATTGCCGGCTCCAGA	0.627													4	185					0	0	0.150653	0	0	T	2817587	C	T	2817587	3	4	9	1	0	0	0	0	1	0	0	0	15225	739	26	2	7096	2	SRRM2	16	2817587	Missense_Mutation	SNP	C	TCGA-CS-5395-01A-01D-1468-08		2817587	87537166	46	382											
SLC6A2	6530	broad.mit.edu	37	16	55705795	55705795	+	Missense_Mutation	SNP	G	G	A			TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr16:55705795G>A	ENST00000567238.1	+	1	213	c.37G>A	c.(37-39)Gtg>Atg	p.V13M	SLC6A2_ENST00000219833.8_Intron|SLC6A2_ENST00000568943.1_Intron|SLC6A2_ENST00000414754.3_Intron|SLC6A2_ENST00000379906.2_Intron|SLC6A2_ENST00000566163.1_Intron|SLC6A2_ENST00000561820.1_Intron	NM_001172502.1	NP_001165973.1	P23975	SC6A2_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 2	0					synaptic transmission	integral to plasma membrane|membrane fraction	norepinephrine:sodium symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(3)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267)	Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Atomoxetine(DB00289)|Bethanidine(DB00217)|Bupropion(DB01156)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Diethylpropion(DB00937)|Doxepin(DB01142)|Duloxetine(DB00476)|Ergotamine(DB00696)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Maprotiline(DB00934)|Mazindol(DB00579)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)	CCAAGGAGAGGTGGCTGTGGG	0.602													14	30					0	0	0.500413	0	0	A	55705795	G	A	55705795	3	1	9	1	0	0	0	0	1	0	0	0	14738	1261	44	2	453	2	SLC6A2	16	55705795	Missense_Mutation	SNP	G	TCGA-CS-5395-01A-01D-1468-08	52888208	55705795	34648958	47	383											
TMEM170A	124491	broad.mit.edu	37	16	75481522	75481522	+	Silent	SNP	T	T	G			TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr16:75481522T>G	ENST00000357613.4	-	3	388	c.300A>C	c.(298-300)acA>acC	p.T100T	TMEM170A_ENST00000566980.1_Silent_p.T55T|TMEM170A_ENST00000569540.1_Silent_p.T85T|TMEM170A_ENST00000567796.1_Silent_p.T78T|RP11-77K12.1_ENST00000567194.1_Intron|TMEM170A_ENST00000561878.1_Silent_p.T123T|RP11-77K12.1_ENST00000561887.1_Intron			Q8WVE7	T170A_HUMAN	transmembrane protein 170A	123						integral to membrane				endometrium(1)	1						CAGTGCCCAGTGTGAGGGCTT	0.408													65	113					0	0	0.870114	0	0	G	75481522	T	G	75481522	2	3	9	1	0	0	0	0	0	0	0	1	16146	1683	59	5		5	TMEM170A	16	75481522	Silent	SNP	T	TCGA-CS-5395-01A-01D-1468-08	19775727	75481522	14873231	48	384											
KRT28	162605	broad.mit.edu	37	17	38955859	38955859	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr17:38955859C>T	ENST00000306658.7	-	1	352	c.287G>A	c.(286-288)cGc>cAc	p.R96H		NM_181535.3	NP_853513.2	Q7Z3Y7	K1C28_HUMAN	keratin 28	96	Coil 1A.|Rod.					cytoplasm|intermediate filament	structural molecule activity			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30		Breast(137;0.000301)				GGATGCCAAGCGGTCATTAAG	0.478													6	175					0	0	0.217242	0	0	T	38955859	C	T	38955859	3	4	9	1	0	0	0	0	1	0	0	0	8508	768	27	1	1139	1	KRT28	17	38955859	Missense_Mutation	SNP	C	TCGA-CS-5395-01A-01D-1468-08		38955859	42239351	49	385											
CARD14	79092	broad.mit.edu	37	17	78171904	78171904	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr17:78171904C>T	ENST00000573882.1	+	14	2137	c.1601C>T	c.(1600-1602)cCg>cTg	p.P534L	CARD14_ENST00000392434.2_Missense_Mutation_p.P297L|CARD14_ENST00000344227.2_Missense_Mutation_p.P534L|CARD14_ENST00000570421.1_Missense_Mutation_p.P534L|CARD14_ENST00000573754.1_3'UTR			Q9BXL6	CAR14_HUMAN	caspase recruitment domain family, member 14	534					activation of NF-kappaB-inducing kinase activity|positive regulation of protein phosphorylation|regulation of apoptosis	aggresome|cytoplasm|plasma membrane	CARD domain binding			NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(5)|prostate(1)|skin(1)	23	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.017)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			CCAGACCTTCCGCAGCTGGAA	0.592													27	104					0	0	0.717897	0	0	T	78171904	C	T	78171904	3	4	9	1	0	0	0	0	1	0	0	0	2664	652	23	1	1643	1	CARD14	17	78171904	Missense_Mutation	SNP	C	TCGA-CS-5395-01A-01D-1468-08	39216045	78171904	3023306	50	386											
LAMA1	284217	broad.mit.edu	37	18	6961754	6961754	+	Missense_Mutation	SNP	A	A	G			TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr18:6961754A>G	ENST00000389658.3	-	53	7550	c.7457T>C	c.(7456-7458)aTc>aCc	p.I2486T		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	2486	Laminin G-like 3.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AACACTCCGGATGGGCTGGAC	0.517													14	27					0	0	0.457914	0	0	G	6961754	A	G	6961754	3	3	9	1	0	0	0	0	1	0	0	0	8644	333	12	3	1814	3	LAMA1	18	6961754	Missense_Mutation	SNP	A	TCGA-CS-5395-01A-01D-1468-08		6961754	71115494	51	387											
PCSK4	54760	broad.mit.edu	37	19	1488063	1488063	+	Missense_Mutation	SNP	A	A	G			TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr19:1488063A>G	ENST00000300954.5	-	4	477	c.416T>C	c.(415-417)aTc>aCc	p.I139T	PCSK4_ENST00000587784.1_5'UTR	NM_017573.3	NP_060043.2	Q6UW60	PCSK4_HUMAN	proprotein convertase subtilisin/kexin type 4	139	Catalytic (By similarity).				proteolysis	integral to membrane	serine-type endopeptidase activity			cervix(2)|endometrium(2)|kidney(1)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	15		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|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)		GGCCTGCAGGATGCTCAGGTC	0.672													4	253					0	0	0.150653	0	0	G	1488063	A	G	1488063	3	3	9	1	0	0	0	0	1	0	0	0	11649	333	12	3	1899	3	PCSK4	19	1488063	Missense_Mutation	SNP	A	TCGA-CS-5395-01A-01D-1468-08		1488063	57640920	52	388											
LRRC8E	80131	broad.mit.edu	37	19	7964897	7964897	+	Missense_Mutation	SNP	G	G	A			TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr19:7964897G>A	ENST00000539278.1	-	1	3530	c.370C>T	c.(370-372)Cgg>Tgg	p.R124W	LRRC8E_ENST00000306708.6_Missense_Mutation_p.R497H																							GAGGAGCTCCGCGAGGTGCCG	0.657													10	20					0	0	0.38729	0	0	A	7964897	G	A	7964897	3	1	9	1	0	0	0	0	1	0	0	0	9070	1087	38	1	1496	1	LRRC8E	19	7964897	Missense_Mutation	SNP	G	TCGA-CS-5395-01A-01D-1468-08	6476834	7964897	51164086	53	389											
LRRC8E	80131	broad.mit.edu	37	19	7965572	7965572	+	Missense_Mutation	SNP	G	G	A			TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr19:7965572G>A	ENST00000306708.6	+	3	2266	c.2165G>A	c.(2164-2166)cGc>cAc	p.R722H	AC010336.1_ENST00000539278.1_5'UTR	NM_001268284.1|NM_001268285.1|NM_025061.4	NP_001255213.1|NP_001255214.1|NP_079337.2	Q6NSJ5	LRC8E_HUMAN	leucine rich repeat containing 8 family, member E	722						integral to membrane				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(10)	35						TTCTTCTGCCGCAAGCTGCGG	0.657													4	181					0	0	0.150653	0	0	A	7965572	G	A	7965572	3	1	9	1	0	0	0	0	1	0	0	0	9070	1087	38	1	2171	1	LRRC8E	19	7965572	Missense_Mutation	SNP	G	TCGA-CS-5395-01A-01D-1468-08	675	7965572	51163411	54	390											
ZNF229	7772	broad.mit.edu	37	19	44933647	44933647	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr19:44933647C>T	ENST00000291187.4	-	6	1613	c.1291G>A	c.(1291-1293)Gag>Aag	p.E431K	ZNF229_ENST00000588931.1_Missense_Mutation_p.E437K|ZNF229_ENST00000591289.1_Intron|CTC-512J12.4_ENST00000588655.1_RNA	NM_001278510.1	NP_001265439.1	Q9UJW7	ZN229_HUMAN	zinc finger protein 229	437					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45		Prostate(69;0.0352)				TTGCCACACTCGCTGCAGGTG	0.537													31	59					0	0	0.717897	0	0	T	44933647	C	T	44933647	3	4	9	1	0	0	0	0	1	0	0	0	17840	893	31	1	1172	1	ZNF229	19	44933647	Missense_Mutation	SNP	C	TCGA-CS-5395-01A-01D-1468-08	36968075	44933647	14195336	55	391											
HIF3A	64344	broad.mit.edu	37	19	46800337	46800337	+	Missense_Mutation	SNP	G	G	A			TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr19:46800337G>A	ENST00000377670.4	+	1	35	c.4G>A	c.(4-6)Gcg>Acg	p.A2T		NM_152795.3	NP_690008.2	Q9Y2N7	HIF3A_HUMAN	hypoxia inducible factor 3, alpha subunit	2					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	33		Ovarian(192;0.00965)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)		GCGAGCCATGGCGCTGGGGCT	0.716													12	19					0	0	0.457914	0	0	A	46800337	G	A	46800337	3	1	9	1	0	0	0	0	1	0	0	0	7146	1203	42	2	6	2	HIF3A	19	46800337	Missense_Mutation	SNP	G	TCGA-CS-5395-01A-01D-1468-08	1866690	46800337	12328646	56	392											
PCSK2	5126	broad.mit.edu	37	20	17410117	17410117	+	Missense_Mutation	SNP	G	G	A			TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr20:17410117G>A	ENST00000262545.2	+	7	973	c.658G>A	c.(658-660)Gcc>Acc	p.A220T	PCSK2_ENST00000377899.1_Missense_Mutation_p.A201T|PCSK2_ENST00000536609.1_Missense_Mutation_p.A185T	NM_002594.3	NP_002585.2	P16519	NEC2_HUMAN	proprotein convertase subtilisin/kexin type 2	220	Catalytic.				enkephalin processing|insulin processing|islet amyloid polypeptide processing	extracellular space|membrane|soluble fraction|transport vesicle	serine-type endopeptidase activity			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TTCTGCTGCCGCCAACAACAA	0.473													105	267					0	0	0.870114	0	0	A	17410117	G	A	17410117	3	1	9	1	0	0	0	0	1	0	0	0	11648	1087	38	1	684	1	PCSK2	20	17410117	Missense_Mutation	SNP	G	TCGA-CS-5395-01A-01D-1468-08		17410117	45615403	57	393											
PLCG1	5335	broad.mit.edu	37	20	39802386	39802387	+	In_Frame_Ins	INS	-	-	GAAGAA			TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr20:39802386_39802387insGAAGAA	ENST00000373272.2	+	29	3894_3895	c.3489_3490insGAAGAA	c.(3490-3492)gaa>GAAGAAgaa	p.1164_1164E>EEE	PLCG1_ENST00000608689.1_3'UTR|PLCG1_ENST00000244007.3_In_Frame_Ins_p.1164_1164E>EEE|PLCG1_ENST00000373271.1_In_Frame_Ins_p.1164_1164E>EEE	NM_002660.2	NP_002651.2	P19174	PLCG1_HUMAN	phospholipase C, gamma 1	1164	C2.				activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration|T cell receptor signaling pathway	cytosol|lamellipodium|plasma membrane|ruffle	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity			breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2)	46		Myeloproliferative disorder(115;0.00878)				TGGTGTATGAGGAAGACATGTT	0.515											OREG0025953	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	47	231	---	---	---	---						GAAGAA	39802387	-	GAAGAA	39802386	7	5	9	1	0	1	1	0	0	0	0	0	12083	991	35	0	3603	0	PLCG1	20	39802386	In_Frame_Ins	INS	-	TCGA-CS-5395-01A-01D-1468-08	22392269	39802386	23223134	58	394											
RGN	9104	broad.mit.edu	37	X	46943843	46943843	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chrX:46943843C>T	ENST00000397180.1	+	4	1159	c.190C>T	c.(190-192)Cgc>Tgc	p.R64C	RGN_ENST00000457380.1_Missense_Mutation_p.R64C|RGN_ENST00000469346.1_3'UTR|RGN_ENST00000336169.3_Missense_Mutation_p.R64C|RGN_ENST00000352078.4_Missense_Mutation_p.R64C	NM_152869.2	NP_690608.1	Q15493	RGN_HUMAN	regucalcin	64					cellular calcium ion homeostasis|positive regulation of ATPase activity|regulation of calcium-mediated signaling	cytoplasm|nucleus	calcium ion binding|enzyme regulator activity|gluconolactonase activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(2)|skin(1)|urinary_tract(1)	9						CGTGGCTCTTCGCCAGTCGGG	0.493													16	4					0	0	0.539581	0	0	T	46943843	C	T	46943843	3	4	9	1	0	0	0	0	1	0	0	0	13334	884	31	1	196	1	RGN	23	46943843	Missense_Mutation	SNP	C	TCGA-CS-5395-01A-01D-1468-08		46943843	108326717	59	395											
SLC25A5	292	broad.mit.edu	37	X	118603962	118603962	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chrX:118603962delT	ENST00000317881.8	+	2	566	c.450delT	c.(448-450)gctfs	p.A150fs	SLC25A5_ENST00000460013.1_3'UTR	NM_001152.4	NP_001143.2	P05141	ADT2_HUMAN	solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 5	150					chromosome segregation|energy reserve metabolic process|interspecies interaction between organisms|regulation of insulin secretion|viral reproduction	integral to plasma membrane|mitochondrial inner membrane|mitochondrial nucleoid|MMXD complex	adenine transmembrane transporter activity|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|stomach(2)	12					Clodronate(DB00720)	AAGCTGGAGCTGAAAGGGAAT	0.537													9	124	---	---	---	---						-	118603962	T	-	118603962	7	5	9	1	0	1	0	1	0	0	0	0	14567	1567	55	0	456	0	SLC25A5	23	118603962	Frame_Shift_Del	DEL	T	TCGA-CS-5395-01A-01D-1468-08	71660119	118603962	36666598	60	396											
MTOR	2475	broad.mit.edu	37	1	11184570	11184570	+	Missense_Mutation	SNP	A	A	G			TCGA-CS-5396-01A-02D-1468-08	TCGA-CS-5396-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	653af577-5555-4b77-bfec-3bd341cf58b5	bd28a937-72d5-4ee5-a2c4-c90271d33b1a	g.chr1:11184570A>G	ENST00000361445.4	-	47	6723	c.6647T>C	c.(6646-6648)cTt>cCt	p.L2216P	MTOR_ENST00000376838.1_Missense_Mutation_p.L421P	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	2216	PI3K/PI4K.				cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						GTTTTTCCGAAGAGATGTTGG	0.443													32	6					0	0	0.796494	0	0	G	11184570	A	G	11184570	3	3	10	1	0	0	0	0	1	0	0	0	10002	72	3	3	1050	3	MTOR	1	11184570	Missense_Mutation	SNP	A	TCGA-CS-5396-01A-02D-1468-08		11184570	238066051	1	397											
MAGI3	260425	broad.mit.edu	37	1	114225640	114225640	+	Silent	SNP	A	A	G			TCGA-CS-5396-01A-02D-1468-08	TCGA-CS-5396-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	653af577-5555-4b77-bfec-3bd341cf58b5	bd28a937-72d5-4ee5-a2c4-c90271d33b1a	g.chr1:114225640A>G	ENST00000307546.9	+	21	3525	c.3450A>G	c.(3448-3450)gaA>gaG	p.E1150E	MAGI3_ENST00000369615.1_3'UTR	NM_001142782.1	NP_001136254.1	Q5TCQ9	MAGI3_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 3	1175					apoptosis|interspecies interaction between organisms|intracellular signal transduction	nucleus|tight junction	ATP binding|guanylate kinase activity|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TAATTGAAGAATCTTTGAGAG	0.368													3	41					0	0	0.115264	0	0	G	114225640	A	G	114225640	2	3	10	1	0	0	0	0	0	0	0	1	9242	98	4	3		3	MAGI3	1	114225640	Silent	SNP	A	TCGA-CS-5396-01A-02D-1468-08	103041070	114225640	135024981	2	398											
ATP8B2	57198	broad.mit.edu	37	1	154306628	154306628	+	Missense_Mutation	SNP	G	G	A			TCGA-CS-5396-01A-02D-1468-08	TCGA-CS-5396-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	653af577-5555-4b77-bfec-3bd341cf58b5	bd28a937-72d5-4ee5-a2c4-c90271d33b1a	g.chr1:154306628G>A	ENST00000368489.3	+	10	734	c.734G>A	c.(733-735)aGc>aAc	p.S245N	ATP8B2_ENST00000341822.2_Missense_Mutation_p.S231N|ATP8B2_ENST00000368487.3_Missense_Mutation_p.S212N|ATP8B2_ENST00000426445.1_3'UTR	NM_020452.3	NP_065185.1	P98198	AT8B2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 2	231					ATP biosynthetic process	plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity		IL6R/ATP8B2(2)	breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			GACAAATTCAGCGGAACCCTC	0.512													14	379					0	0	0.500413	0	0	A	154306628	G	A	154306628	3	1	10	1	0	0	0	0	1	0	0	0	1193	971	34	2	772	2	ATP8B2	1	154306628	Missense_Mutation	SNP	G	TCGA-CS-5396-01A-02D-1468-08	40080988	154306628	94943993	3	399											
VHLL	391104	broad.mit.edu	37	1	156268966	156268966	+	Silent	SNP	C	C	T			TCGA-CS-5396-01A-02D-1468-08	TCGA-CS-5396-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	653af577-5555-4b77-bfec-3bd341cf58b5	bd28a937-72d5-4ee5-a2c4-c90271d33b1a	g.chr1:156268966C>T	ENST00000339922.3	-	1	462	c.15G>A	c.(13-15)gcG>gcA	p.A5A		NM_001004319.2	NP_001004319.1	Q6RSH7	VHLL_HUMAN	von Hippel-Lindau tumor suppressor-like	5					protein ubiquitination	nucleus				endometrium(1)|lung(2)|ovary(1)	4	Hepatocellular(266;0.158)					CCCCGTTCCCCGCTCTCCAGG	0.597													9	127					0	0	0.361761	0	0	T	156268966	C	T	156268966	2	4	10	1	0	0	0	0	0	0	0	1	17223	639	23	1		1	VHLL	1	156268966	Silent	SNP	C	TCGA-CS-5396-01A-02D-1468-08	1962338	156268966	92981655	4	400											
NEB	4703	broad.mit.edu	37	2	152409920	152409920	+	Missense_Mutation	SNP	G	G	A			TCGA-CS-5396-01A-02D-1468-08	TCGA-CS-5396-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	653af577-5555-4b77-bfec-3bd341cf58b5	bd28a937-72d5-4ee5-a2c4-c90271d33b1a	g.chr2:152409920G>A	ENST00000427231.2	-	127	19925	c.19723C>T	c.(19723-19725)Cgt>Tgt	p.R6575C	NEB_ENST00000603639.1_Missense_Mutation_p.R6575C|NEB_ENST00000172853.10_Missense_Mutation_p.R4874C|NEB_ENST00000604864.1_Missense_Mutation_p.R6575C|NEB_ENST00000409198.1_Missense_Mutation_p.R4874C|NEB_ENST00000397345.3_Missense_Mutation_p.R6575C	NM_001164507.1|NM_001271208.1	NP_001157979|NP_001258137.1	P20929	NEBU_HUMAN	nebulin	4874	Interaction with SVIL.				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		ACATCATCACGTAGATCATAA	0.408													44	35					0	0	0.853193	0	0	A	152409920	G	A	152409920	3	1	10	1	0	0	0	0	1	0	0	0	10349	1145	40	1	6187	1	NEB	2	152409920	Missense_Mutation	SNP	G	TCGA-CS-5396-01A-02D-1468-08		152409920	90789453	5	401											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-CS-5396-01A-02D-1468-08	TCGA-CS-5396-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	653af577-5555-4b77-bfec-3bd341cf58b5	bd28a937-72d5-4ee5-a2c4-c90271d33b1a	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	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								36	46					0	0	0.840704	0	0	T	209113112	C	T	209113112	3	4	10	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-CS-5396-01A-02D-1468-08	56703192	209113112	34086261	6	402											
SLC6A6	6533	broad.mit.edu	37	3	14520692	14520692	+	Splice_Site	SNP	T	T	C			TCGA-CS-5396-01A-02D-1468-08	TCGA-CS-5396-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	653af577-5555-4b77-bfec-3bd341cf58b5	bd28a937-72d5-4ee5-a2c4-c90271d33b1a	g.chr3:14520692T>C	ENST00000454876.2	+	13	1879	c.1550T>C	c.(1549-1551)gTt>gCt	p.V517A	SLC6A6_ENST00000360861.3_Splice_Site_p.V517A			P31641	SC6A6_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 6	517					cellular amino acid metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity|taurine:sodium symporter activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)	28						GTTCTCTGTGTTGTGAGTTCC	0.517													36	66					0	0	0.796494	0	0	C	14520692	T	C	14520692	5	2	10	1	0	0	0	0	0	0	1	0	14743	1739	60	3	1596	3	SLC6A6	3	14520692	Splice_Site	SNP	T	TCGA-CS-5396-01A-02D-1468-08		14520692	183501738	7	403											
GADL1	339896	broad.mit.edu	37	3	30885753	30885753	+	Silent	SNP	A	A	G			TCGA-CS-5396-01A-02D-1468-08	TCGA-CS-5396-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	653af577-5555-4b77-bfec-3bd341cf58b5	bd28a937-72d5-4ee5-a2c4-c90271d33b1a	g.chr3:30885753A>G	ENST00000454381.3	-	8	781	c.735T>C	c.(733-735)ggT>ggC	p.G245G	GADL1_ENST00000282538.5_Silent_p.G245G			Q6ZQY3	GADL1_HUMAN	glutamate decarboxylase-like 1	245					carboxylic acid metabolic process		carboxy-lyase activity|pyridoxal phosphate binding			breast(2)|endometrium(3)|kidney(2)|lung(17)|upper_aerodigestive_tract(1)	25					Pyridoxal Phosphate(DB00114)	GTATCATTTTACCTCTAAGGG	0.433													79	106					0	0	0.870114	0	0	G	30885753	A	G	30885753	2	3	10	1	0	0	0	0	0	0	0	1	6220	378	14	3		3	GADL1	3	30885753	Silent	SNP	A	TCGA-CS-5396-01A-02D-1468-08	16365061	30885753	167136677	8	404											
SPATA18	132671	broad.mit.edu	37	4	52945942	52945942	+	Missense_Mutation	SNP	G	G	T			TCGA-CS-5396-01A-02D-1468-08	TCGA-CS-5396-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	653af577-5555-4b77-bfec-3bd341cf58b5	bd28a937-72d5-4ee5-a2c4-c90271d33b1a	g.chr4:52945942G>T	ENST00000295213.4	+	9	1586	c.1212G>T	c.(1210-1212)aaG>aaT	p.K404N	SPATA18_ENST00000419395.2_Missense_Mutation_p.K372N	NM_145263.2	NP_660306.1	Q8TC71	MIEAP_HUMAN	spermatogenesis associated 18	404					mitochondrial protein catabolic process|mitochondrion degradation by induced vacuole formation|response to DNA damage stimulus	mitochondrial outer membrane	protein binding	p.K404N(2)		breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)			TCAATCCCAAGATTTCATTCC	0.443													8	287					7.48243e-07	8.55135e-07	0.335167	1	0	T	52945942	G	T	52945942	3	4	10	1	0	0	0	0	1	0	0	0	15059	933	33	4	1246	4	SPATA18	4	52945942	Missense_Mutation	SNP	G	TCGA-CS-5396-01A-02D-1468-08		52945942	138208334	9	405											
HERC3	8916	broad.mit.edu	37	4	89583639	89583639	+	Missense_Mutation	SNP	A	A	G			TCGA-CS-5396-01A-02D-1468-08	TCGA-CS-5396-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	653af577-5555-4b77-bfec-3bd341cf58b5	bd28a937-72d5-4ee5-a2c4-c90271d33b1a	g.chr4:89583639A>G	ENST00000402738.1	+	11	1443	c.1204A>G	c.(1204-1206)Ata>Gta	p.I402V	HERC3_ENST00000264345.3_Missense_Mutation_p.I402V|HERC3_ENST00000543130.1_Intron	NM_001271602.1|NM_014606.1	NP_001258531.1|NP_055421.1	Q15034	HERC3_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 3	402					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasmic membrane-bounded vesicle	ubiquitin-protein ligase activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|prostate(2)|skin(2)	45				OV - Ovarian serous cystadenocarcinoma(123;0.000319)		TACCAGTTTAATAAATGATGA	0.333													45	60					0	0	0.870114	0	0	G	89583639	A	G	89583639	3	3	10	1	0	0	0	0	1	0	0	0	7100	101	4	3	1238	3	HERC3	4	89583639	Missense_Mutation	SNP	A	TCGA-CS-5396-01A-02D-1468-08	36637697	89583639	101570637	10	406											
ADH1A	124	broad.mit.edu	37	4	100205754	100205754	+	Silent	SNP	G	G	A			TCGA-CS-5396-01A-02D-1468-08	TCGA-CS-5396-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	653af577-5555-4b77-bfec-3bd341cf58b5	bd28a937-72d5-4ee5-a2c4-c90271d33b1a	g.chr4:100205754G>A	ENST00000209668.2	-	5	482	c.369C>T	c.(367-369)acC>acT	p.T123T	RP11-696N14.1_ENST00000500358.2_RNA	NM_000667.3	NP_000658.1	P07327	ADH1A_HUMAN	alcohol dehydrogenase 1A (class I), alpha polypeptide	123					ethanol oxidation|transcription, DNA-dependent|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|protein binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)	25				OV - Ovarian serous cystadenocarcinoma(123;9.56e-08)	Fomepizole(DB01213)|NADH(DB00157)	CATCCTGCAGGGTCCCCTGAG	0.517													21	38					0	0	0.608945	0	0	A	100205754	G	A	100205754	2	1	10	1	0	0	0	0	0	0	0	1	306	1219	43	2		2	ADH1A	4	100205754	Silent	SNP	G	TCGA-CS-5396-01A-02D-1468-08	10622115	100205754	90948522	11	407											
SLC26A8	116369	broad.mit.edu	37	6	35922951	35922951	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-5396-01A-02D-1468-08	TCGA-CS-5396-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	653af577-5555-4b77-bfec-3bd341cf58b5	bd28a937-72d5-4ee5-a2c4-c90271d33b1a	g.chr6:35922951C>T	ENST00000490799.1	-	17	2563	c.2210G>A	c.(2209-2211)cGg>cAg	p.R737Q	SLC26A8_ENST00000355574.2_Missense_Mutation_p.R737Q|SLC26A8_ENST00000394602.2_Missense_Mutation_p.R632Q	NM_052961.3	NP_443193.1	Q96RN1	S26A8_HUMAN	solute carrier family 26 (anion exchanger), member 8	737	Interaction with RACGAP1.|STAS.				cell differentiation|meiosis|multicellular organismal development|spermatogenesis	integral to membrane|plasma membrane	anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity	p.R737L(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						GACTAACCCCCGTGAATCCAC	0.527													59	92					0	0	0.870114	0	0	T	35922951	C	T	35922951	3	4	10	1	0	0	0	0	1	0	0	0	14578	652	23	1	718	1	SLC26A8	6	35922951	Missense_Mutation	SNP	C	TCGA-CS-5396-01A-02D-1468-08		35922951	135192116	12	408											
EPHA7	2045	broad.mit.edu	37	6	93964475	93964475	+	Missense_Mutation	SNP	T	T	C			TCGA-CS-5396-01A-02D-1468-08	TCGA-CS-5396-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	653af577-5555-4b77-bfec-3bd341cf58b5	bd28a937-72d5-4ee5-a2c4-c90271d33b1a	g.chr6:93964475T>C	ENST00000369303.4	-	14	2606	c.2422A>G	c.(2422-2424)Atc>Gtc	p.I808V		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	808	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		CGGTACTGGATGGCTTCGGGT	0.373													40	44					0	0	0.827153	0	0	C	93964475	T	C	93964475	3	2	10	1	0	0	0	0	1	0	0	0	5200	1464	51	3	590	3	EPHA7	6	93964475	Missense_Mutation	SNP	T	TCGA-CS-5396-01A-02D-1468-08	58041524	93964475	77150592	13	409											
MAP3K5	4217	broad.mit.edu	37	6	136935398	136935398	+	Missense_Mutation	SNP	A	A	G			TCGA-CS-5396-01A-02D-1468-08	TCGA-CS-5396-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	653af577-5555-4b77-bfec-3bd341cf58b5	bd28a937-72d5-4ee5-a2c4-c90271d33b1a	g.chr6:136935398A>G	ENST00000359015.4	-	16	2537	c.2177T>C	c.(2176-2178)aTa>aCa	p.I726T	MAP3K5_ENST00000355845.4_5'UTR	NM_005923.3	NP_005914.1	Q99683	M3K5_HUMAN	mitogen-activated protein kinase kinase kinase 5	726	Protein kinase.				activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms		ATP binding|caspase activator activity|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein phosphatase binding			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		ATGCAATGCTATTTCTTCATG	0.363													64	100					0	0	0.870114	0	0	G	136935398	A	G	136935398	3	3	10	1	0	0	0	0	1	0	0	0	9303	449	16	3	2007	3	MAP3K5	6	136935398	Missense_Mutation	SNP	A	TCGA-CS-5396-01A-02D-1468-08	42970923	136935398	34179669	14	410											
CYCS	54205	broad.mit.edu	37	7	25163609	25163609	+	Missense_Mutation	SNP	C	C	A	rs11548807		TCGA-CS-5396-01A-02D-1468-08	TCGA-CS-5396-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	653af577-5555-4b77-bfec-3bd341cf58b5	bd28a937-72d5-4ee5-a2c4-c90271d33b1a	g.chr7:25163609C>A	ENST00000305786.2	-	2	299	c.130G>T	c.(130-132)Gcc>Tcc	p.A44S	CYCS_ENST00000409764.1_Missense_Mutation_p.A44S|CYCS_ENST00000409409.1_Missense_Mutation_p.A44S	NM_018947.5	NP_061820.1	P99999	CYC_HUMAN	cytochrome c, somatic	44					activation of caspase activity by cytochrome c|DNA fragmentation involved in apoptotic nuclear change|induction of apoptosis by intracellular signals|respiratory electron transport chain|transport	cytosol|mitochondrial inner membrane|mitochondrial intermembrane space|mitochondrial matrix|nucleus|protein phosphatase type 2A complex|respiratory chain	electron transporter, transferring electrons from CoQH2-cytochrome c reductase complex and cytochrome c oxidase complex activity|heme binding|protein binding			endometrium(1)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	4					Melatonin(DB01065)|Minocycline(DB01017)	TATCCAGGGGCCTGACCTGTC	0.443													21	68					7.45023e-12	8.72221e-12	0.592651	1	0	A	25163609	C	A	25163609	3	1	10	1	0	0	0	0	1	0	0	0	4159	739	26	5	195	5	CYCS	7	25163609	Missense_Mutation	SNP	C	TCGA-CS-5396-01A-02D-1468-08		25163609	133975054	15	411											
GPR124	25960	broad.mit.edu	37	8	37698790	37698790	+	Missense_Mutation	SNP	G	G	T			TCGA-CS-5396-01A-02D-1468-08	TCGA-CS-5396-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	653af577-5555-4b77-bfec-3bd341cf58b5	bd28a937-72d5-4ee5-a2c4-c90271d33b1a	g.chr8:37698790G>T	ENST00000315215.7	+	16	2646	c.2283G>T	c.(2281-2283)agG>agT	p.R761S	GPR124_ENST00000412232.2_Missense_Mutation_p.R978S			Q96PE1	GP124_HUMAN	G protein-coupled receptor 124	978					central nervous system development|endothelial cell migration|neuropeptide signaling pathway|regulation of angiogenesis|regulation of chemotaxis|sprouting angiogenesis	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37			BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			GTTCCACCAGGCTCAGGGGCA	0.706													6	4					0.0215528	0.0229896	0.217242	1	0	T	37698790	G	T	37698790	3	4	10	1	0	0	0	0	1	0	0	0	6678	1194	42	5	2987	5	GPR124	8	37698790	Missense_Mutation	SNP	G	TCGA-CS-5396-01A-02D-1468-08		37698790	108665232	16	412											
MTA2	9219	broad.mit.edu	37	11	62363998	62363998	+	Missense_Mutation	SNP	A	A	G			TCGA-CS-5396-01A-02D-1468-08	TCGA-CS-5396-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	653af577-5555-4b77-bfec-3bd341cf58b5	bd28a937-72d5-4ee5-a2c4-c90271d33b1a	g.chr11:62363998A>G	ENST00000278823.2	-	10	1278	c.889T>C	c.(889-891)Tgg>Cgg	p.W297R	MTA2_ENST00000524902.1_Missense_Mutation_p.W124R|MTA2_ENST00000527204.1_Missense_Mutation_p.W124R	NM_004739.3	NP_004730.2	O94776	MTA2_HUMAN	metastasis associated 1 family, member 2	297	SANT.				chromatin assembly or disassembly	NuRD complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	26						AGTGACTTCCAGGGTAGCTAA	0.542													20	60					0	0	0.624587	0	0	G	62363998	A	G	62363998	3	3	10	1	0	0	0	0	1	0	0	0	9957	188	7	3	1153	3	MTA2	11	62363998	Missense_Mutation	SNP	A	TCGA-CS-5396-01A-02D-1468-08		62363998	72642518	17	413											
KRAS	3845	broad.mit.edu	37	12	25398306	25398306	+	Missense_Mutation	SNP	T	T	C	rs121918682		TCGA-CS-5396-01A-02D-1468-08	TCGA-CS-5396-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	653af577-5555-4b77-bfec-3bd341cf58b5	bd28a937-72d5-4ee5-a2c4-c90271d33b1a	g.chr12:25398306T>C	ENST00000311936.3	-	2	204	c.13A>G	c.(13-15)Aaa>Gaa	p.K5E	KRAS_ENST00000256078.4_Missense_Mutation_p.K5E|KRAS_ENST00000556131.1_Missense_Mutation_p.K5E|KRAS_ENST00000557334.1_Missense_Mutation_p.K5E	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	5			K -> E (in NS3).|K -> N (in GASC; found also in a patient with Costello syndrome; exhibits only minor alterations in its in vitro biochemical behavior compared to wild- type protein).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.K5E(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			ACCACAAGTTTATATTCAGTC	0.358		119	Mis		"pancreatic, colorectal, lung, thyroid, AML, others"				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			20	31					0	0	0.592651	0	0	C	25398306	T	C	25398306	3	2	10	1	0	0	0	0	1	0	0	0	8481	1763	61	3	693	3	KRAS	12	25398306	Missense_Mutation	SNP	T	TCGA-CS-5396-01A-02D-1468-08		25398306	108453589	18	414											
PDE1B	5153	broad.mit.edu	37	12	54968886	54968886	+	Missense_Mutation	SNP	G	G	A			TCGA-CS-5396-01A-02D-1468-08	TCGA-CS-5396-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	653af577-5555-4b77-bfec-3bd341cf58b5	bd28a937-72d5-4ee5-a2c4-c90271d33b1a	g.chr12:54968886G>A	ENST00000243052.3	+	11	1505	c.1069G>A	c.(1069-1071)Gac>Aac	p.D357N	PDE1B_ENST00000550620.1_Missense_Mutation_p.D337N|PDE1B_ENST00000538346.1_Missense_Mutation_p.D316N|PDE1B_ENST00000394277.3_3'UTR	NM_000924.3	NP_000915.1	Q01064	PDE1B_HUMAN	phosphodiesterase 1B, calmodulin-dependent	357	Catalytic (By similarity).				activation of phospholipase C activity|apoptosis|nerve growth factor receptor signaling pathway|platelet activation	cytosol|nucleus	3',5'-cyclic-AMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			endometrium(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(4)	31						AACCAGGATTGACAAGCCCAA	0.537													8	95					0	0	0.335167	0	0	A	54968886	G	A	54968886	3	1	10	1	0	0	0	0	1	0	0	0	11681	1290	45	2	1164	2	PDE1B	12	54968886	Missense_Mutation	SNP	G	TCGA-CS-5396-01A-02D-1468-08	29570580	54968886	78883009	19	415											
EEA1	8411	broad.mit.edu	37	12	93244954	93244954	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-5396-01A-02D-1468-08	TCGA-CS-5396-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	653af577-5555-4b77-bfec-3bd341cf58b5	bd28a937-72d5-4ee5-a2c4-c90271d33b1a	g.chr12:93244954C>T	ENST00000322349.8	-	9	995	c.731G>A	c.(730-732)cGt>cAt	p.R244H		NM_003566.3	NP_003557	Q15075	EEA1_HUMAN	early endosome antigen 1	244					early endosome to late endosome transport|synaptic vesicle to endosome fusion|vesicle fusion	cytosol|early endosome membrane|extrinsic to plasma membrane|membrane fraction	1-phosphatidylinositol binding|calmodulin binding|GTP-dependent protein binding|protein homodimerization activity|zinc ion binding			endometrium(5)|kidney(5)|large_intestine(11)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	36						TTCTCGCTCACGTTCCAAGGT	0.383													35	41					0	0	0.769981	0	0	T	93244954	C	T	93244954	3	4	10	1	0	0	0	0	1	0	0	0	4947	536	19	1	3588	1	EEA1	12	93244954	Missense_Mutation	SNP	C	TCGA-CS-5396-01A-02D-1468-08	38276068	93244954	40606941	20	416											
FRY	10129	broad.mit.edu	37	13	32747575	32747575	+	Silent	SNP	A	A	C			TCGA-CS-5396-01A-02D-1468-08	TCGA-CS-5396-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	653af577-5555-4b77-bfec-3bd341cf58b5	bd28a937-72d5-4ee5-a2c4-c90271d33b1a	g.chr13:32747575A>C	ENST00000380250.3	+	19	2719	c.2223A>C	c.(2221-2223)gtA>gtC	p.V741V		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	741					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		TCCACGCTGTAGAAGGTTTTG	0.468													20	102					0	0	0.575678	0	0	C	32747575	A	C	32747575	2	2	10	1	0	0	0	0	0	0	0	1	6098	407	15	5		5	FRY	13	32747575	Silent	SNP	A	TCGA-CS-5396-01A-02D-1468-08		32747575	82422303	21	417											
EFNB2	1948	broad.mit.edu	37	13	107147326	107147326	+	Silent	SNP	T	T	A			TCGA-CS-5396-01A-02D-1468-08	TCGA-CS-5396-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	653af577-5555-4b77-bfec-3bd341cf58b5	bd28a937-72d5-4ee5-a2c4-c90271d33b1a	g.chr13:107147326T>A	ENST00000245323.4	-	4	665	c.516A>T	c.(514-516)ggA>ggT	p.G172G		NM_004093.3	NP_004084.1	P52799	EFNB2_HUMAN	ephrin-B2	172					cell differentiation|cell-cell signaling|interspecies interaction between organisms|nervous system development	integral to plasma membrane	ephrin receptor binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	13	Lung NSC(43;0.015)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169)					TCCTGGTTGATCCAGCAGAAC	0.383													90	111					0	0	0.870114	0	0	A	107147326	T	A	107147326	2	1	10	1	0	0	0	0	0	0	0	1	4982	1422	50	4		4	EFNB2	13	107147326	Silent	SNP	T	TCGA-CS-5396-01A-02D-1468-08	74399751	107147326	8022552	22	418											
MC1R	4157	broad.mit.edu	37	16	89986243	89986243	+	Missense_Mutation	SNP	G	G	A			TCGA-CS-5396-01A-02D-1468-08	TCGA-CS-5396-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	653af577-5555-4b77-bfec-3bd341cf58b5	bd28a937-72d5-4ee5-a2c4-c90271d33b1a	g.chr16:89986243G>A	ENST00000555427.1	+	3	2880	c.577G>A	c.(577-579)Gtg>Atg	p.V193M	TUBB3_ENST00000556922.1_Missense_Mutation_p.V193M|RP11-566K11.4_ENST00000554623.1_RNA|MC1R_ENST00000555147.1_Missense_Mutation_p.V193M					melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor)											endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	11		all_cancers(9;1.69e-11)|Lung NSC(15;8.94e-06)|all_lung(18;1.39e-05)|all_neural(9;0.00581)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0273)		GCTGTGCCTCGTGGTCTTCTT	0.672									Melanoma, Familial Clustering of				4	47					0	0	0.150653	0	0	A	89986243	G	A	89986243	3	1	10	1	0	0	0	0	1	0	0	0	9413	1145	40	1	579	1	MC1R	16	89986243	Missense_Mutation	SNP	G	TCGA-CS-5396-01A-02D-1468-08		89986243	368510	23	419											
TP53	7157	broad.mit.edu	37	17	7577120	7577120	+	Missense_Mutation	SNP	C	C	T	rs28934576	by1000genomes	TCGA-CS-5396-01A-02D-1468-08	TCGA-CS-5396-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	653af577-5555-4b77-bfec-3bd341cf58b5	bd28a937-72d5-4ee5-a2c4-c90271d33b1a	g.chr17:7577120C>T	ENST00000420246.2	-	8	950	c.818G>A	c.(817-819)cGt>cAt	p.R273H	TP53_ENST00000445888.2_Missense_Mutation_p.R273H|TP53_ENST00000269305.4_Missense_Mutation_p.R273H|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.R273H|TP53_ENST00000359597.4_Missense_Mutation_p.R273H	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	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).		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.R273H(521)|p.R273L(93)|p.R273P(32)|p.0?(8)|p.?(2)|p.R273fs*32(2)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273S(1)|p.E258fs*71(1)|p.R273fs*72(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.R273fs*33(1)|p.E271_R273delEVR(1)|p.V272_K292del21(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	0.542	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)			13	34					0	0	0.457914	0	0	T	7577120	C	T	7577120	3	4	10	1	0	0	0	0	1	0	0	0	16442	536	19	1	468	1	TP53	17	7577120	Missense_Mutation	SNP	C	TCGA-CS-5396-01A-02D-1468-08		7577120	73618090	24	420											
CSH1	1442	broad.mit.edu	37	17	61972456	61972456	+	Missense_Mutation	SNP	T	T	C			TCGA-CS-5396-01A-02D-1468-08	TCGA-CS-5396-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	653af577-5555-4b77-bfec-3bd341cf58b5	bd28a937-72d5-4ee5-a2c4-c90271d33b1a	g.chr17:61972456T>C	ENST00000316193.8	-	5	721	c.580A>G	c.(580-582)Aag>Gag	p.K194E	CSH1_ENST00000453363.3_Missense_Mutation_p.K99E|CSH1_ENST00000329882.8_3'UTR	NM_001317.5	NP_001308.1	P01243	CSH_HUMAN	chorionic somatomammotropin hormone 1 (placental lactogen)	194					female pregnancy|signal transduction	extracellular region	hormone activity|metal ion binding			central_nervous_system(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	8						TCCATGTCCTTCCTGAAGCAG	0.567									Russell-Silver syndrome				80	108					0	0	0.870114	0	0	C	61972456	T	C	61972456	3	2	10	1	0	0	0	0	1	0	0	0	3965	1792	62	3	77	3	CSH1	17	61972456	Missense_Mutation	SNP	T	TCGA-CS-5396-01A-02D-1468-08	54395336	61972456	19222754	25	421											
THOP1	7064	broad.mit.edu	37	19	2810741	2810741	+	Missense_Mutation	SNP	G	G	T			TCGA-CS-5396-01A-02D-1468-08	TCGA-CS-5396-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	653af577-5555-4b77-bfec-3bd341cf58b5	bd28a937-72d5-4ee5-a2c4-c90271d33b1a	g.chr19:2810741G>T	ENST00000307741.6	+	11	1949	c.1746G>T	c.(1744-1746)gaG>gaT	p.E582D	THOP1_ENST00000586677.1_Missense_Mutation_p.E461D|THOP1_ENST00000395212.4_Missense_Mutation_p.E93D	NM_003249.3	NP_003240.1	P52888	THOP1_HUMAN	thimet oligopeptidase 1	582					proteolysis	cytoplasm	metal ion binding|metalloendopeptidase activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(1)|lung(8)|ovary(2)|skin(1)	14				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)		TCTGCCAGGAGATCCTCGGGG	0.662													4	9					0.000602214	0.000656961	0.184627	1	0	T	2810741	G	T	2810741	3	4	10	1	0	0	0	0	1	0	0	0	15931	933	33	4	1788	4	THOP1	19	2810741	Missense_Mutation	SNP	G	TCGA-CS-5396-01A-02D-1468-08		2810741	56318242	26	422											
TIAM1	7074	broad.mit.edu	37	21	32617956	32617956	+	Missense_Mutation	SNP	C	C	G			TCGA-CS-5396-01A-02D-1468-08	TCGA-CS-5396-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	653af577-5555-4b77-bfec-3bd341cf58b5	bd28a937-72d5-4ee5-a2c4-c90271d33b1a	g.chr21:32617956C>G	ENST00000286827.3	-	7	1903	c.1432G>C	c.(1432-1434)Gag>Cag	p.E478Q	TIAM1_ENST00000469412.1_5'UTR|TIAM1_ENST00000541036.1_Missense_Mutation_p.E478Q	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	478	PH 1.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						CCGTCGCTCTCGTAGAAAAAT	0.527													10	41					0	0	0.361761	0	0	G	32617956	C	G	32617956	3	3	10	1	0	0	0	0	1	0	0	0	15950	893	31	5	3435	5	TIAM1	21	32617956	Missense_Mutation	SNP	C	TCGA-CS-5396-01A-02D-1468-08		32617956	15511939	27	423											
PHEX	5251	broad.mit.edu	37	X	22095667	22095667	+	Silent	SNP	T	T	A			TCGA-CS-5396-01A-02D-1468-08	TCGA-CS-5396-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	653af577-5555-4b77-bfec-3bd341cf58b5	bd28a937-72d5-4ee5-a2c4-c90271d33b1a	g.chrX:22095667T>A	ENST00000379374.4	+	5	1075	c.510T>A	c.(508-510)ctT>ctA	p.L170L	PHEX_ENST00000535894.1_Silent_p.L73L|PHEX_ENST00000537599.1_Silent_p.L170L	NM_000444.4	NP_000435.3	P78562	PHEX_HUMAN	phosphate regulating endopeptidase homolog, X-linked	170					biomineral tissue development|cell-cell signaling|protein modification process|proteolysis|skeletal system development	integral to plasma membrane	aminopeptidase activity|metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(2)|endometrium(2)|large_intestine(12)|liver(1)|lung(19)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	42						GGCCCGTGCTTGAATCTAATA	0.473													140	246					0	0	0.870114	0	0	A	22095667	T	A	22095667	2	1	10	1	0	0	0	0	0	0	0	1	11867	1799	63	5		5	PHEX	23	22095667	Silent	SNP	T	TCGA-CS-5396-01A-02D-1468-08		22095667	133174893	28	424											
COL4A6	1288	broad.mit.edu	37	X	107406179	107406179	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-5396-01A-02D-1468-08	TCGA-CS-5396-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	653af577-5555-4b77-bfec-3bd341cf58b5	bd28a937-72d5-4ee5-a2c4-c90271d33b1a	g.chrX:107406179C>T	ENST00000334504.7	-	41	4392	c.4159G>A	c.(4159-4161)Gat>Aat	p.D1387N	COL4A6_ENST00000545689.1_Missense_Mutation_p.D1363N|COL4A6_ENST00000538570.1_Missense_Mutation_p.D1330N|COL4A6_ENST00000372216.4_Missense_Mutation_p.D1388N|COL4A6_ENST00000394872.2_Missense_Mutation_p.D1388N	NM_033641.2	NP_378667.1	Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	1388	Triple-helical region.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						GGGATGCCATCGATCCCTGGT	0.592									Alport syndrome with Diffuse Leiomyomatosis				116	174					0	0	0.870114	0	0	T	107406179	C	T	107406179	3	4	10	1	0	0	0	0	1	0	0	0	3718	884	31	1	933	1	COL4A6	23	107406179	Missense_Mutation	SNP	C	TCGA-CS-5396-01A-02D-1468-08	85310512	107406179	47864381	29	425											
PLXNA3	55558	broad.mit.edu	37	X	153695648	153695648	+	Missense_Mutation	SNP	G	G	T			TCGA-CS-5396-01A-02D-1468-08	TCGA-CS-5396-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	653af577-5555-4b77-bfec-3bd341cf58b5	bd28a937-72d5-4ee5-a2c4-c90271d33b1a	g.chrX:153695648G>T	ENST00000369682.3	+	19	3450	c.3275G>T	c.(3274-3276)cGg>cTg	p.R1092L		NM_017514.3	NP_059984.3	P51805	PLXA3_HUMAN	plexin A3	1092	IPT/TIG 3.				axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CCCCAGCCTCGGGCGCAAGGC	0.617													28	112					4.65686e-17	5.58824e-17	0.788014	1	0	T	153695648	G	T	153695648	3	4	10	1	0	0	0	0	1	0	0	0	12169	1116	39	5	3345	5	PLXNA3	23	153695648	Missense_Mutation	SNP	G	TCGA-CS-5396-01A-02D-1468-08	46289469	153695648	1574912	30	426											
PLCH2	9651	broad.mit.edu	37	1	2411404	2411404	+	Missense_Mutation	SNP	G	G	A			TCGA-CS-5397-01A-01D-1893-08	TCGA-CS-5397-10A-03D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9932b51d-ebd9-4cbc-8c8c-83a5661a16c0	41c76fb1-1c57-4b6b-92f9-835ea17dbe23	g.chr1:2411404G>A	ENST00000449969.1	+	3	583	c.422G>A	c.(421-423)cGc>cAc	p.R141H	PLCH2_ENST00000378488.3_Missense_Mutation_p.R168H|PLCH2_ENST00000378486.3_Missense_Mutation_p.R168H|PLCH2_ENST00000419816.2_Missense_Mutation_p.R168H|PLCH2_ENST00000288766.5_Intron			O75038	PLCH2_HUMAN	phospholipase C, eta 2	168	Necessary for plasma membrane localization (By similarity).|PH.				intracellular signal transduction|lipid catabolic process	cytoplasm|plasma membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(3)|skin(1)	20	all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2)		CGCCGCCAGCGCACCAGGGAC	0.687													18	49					0	0	0.012319	0	0	A	2411404	G	A	2411404	3	1	11	1	0	0	0	0	1	0	0	0	12086	1087	38	1	513	1	PLCH2	1	2411404	Missense_Mutation	SNP	G	TCGA-CS-5397-01A-01D-1893-08		2411404	246839217	1	427											
AADACL4	343066	broad.mit.edu	37	1	12711261	12711261	+	Silent	SNP	G	G	A			TCGA-CS-5397-01A-01D-1893-08	TCGA-CS-5397-10A-03D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9932b51d-ebd9-4cbc-8c8c-83a5661a16c0	41c76fb1-1c57-4b6b-92f9-835ea17dbe23	g.chr1:12711261G>A	ENST00000376221.1	+	2	288	c.288G>A	c.(286-288)acG>acA	p.T96T		NM_001013630.1	NP_001013652.1	Q5VUY2	ADCL4_HUMAN	arylacetamide deacetylase-like 4	96						integral to membrane	carboxylesterase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)	17	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384)		GTTTTGGGACGATACCCGTGA	0.517													31	53					0	0	0.009535	0	0	A	12711261	G	A	12711261	2	1	11	1	0	0	0	0	0	0	0	1	13	1045	37	1		1	AADACL4	1	12711261	Silent	SNP	G	TCGA-CS-5397-01A-01D-1893-08	10299857	12711261	236539360	2	428											
ZNF362	149076	broad.mit.edu	37	1	33745746	33745746	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-5397-01A-01D-1893-08	TCGA-CS-5397-10A-03D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9932b51d-ebd9-4cbc-8c8c-83a5661a16c0	41c76fb1-1c57-4b6b-92f9-835ea17dbe23	g.chr1:33745746C>T	ENST00000539719.1	+	5	541	c.371C>T	c.(370-372)aCc>aTc	p.T124I	ZNF362_ENST00000373428.5_Missense_Mutation_p.T124I	NM_152493.2	NP_689706.2	Q5T0B9	ZN362_HUMAN	zinc finger protein 362	124					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(4)|lung(2)	10		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				TCCACCCGGACCCCGTCTGTG	0.682													12	58					0	0	0.013537	0	0	T	33745746	C	T	33745746	3	4	11	1	0	0	0	0	1	0	0	0	17925	507	18	2	385	2	ZNF362	1	33745746	Missense_Mutation	SNP	C	TCGA-CS-5397-01A-01D-1893-08	21034485	33745746	215504875	3	429											
DAB1	1600	broad.mit.edu	37	1	57756661	57756661	+	Silent	SNP	G	G	A			TCGA-CS-5397-01A-01D-1893-08	TCGA-CS-5397-10A-03D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9932b51d-ebd9-4cbc-8c8c-83a5661a16c0	41c76fb1-1c57-4b6b-92f9-835ea17dbe23	g.chr1:57756661G>A	ENST00000371236.2	-	2	305	c.42C>T	c.(40-42)agC>agT	p.S14S	DAB1_ENST00000414851.2_Silent_p.S14S|DAB1_ENST00000420954.2_Silent_p.S14S|DAB1_ENST00000371234.4_Silent_p.S14S|DAB1_ENST00000371230.1_Silent_p.S14S|DAB1_ENST00000371231.1_Silent_p.S14S|DAB1_ENST00000439789.2_Silent_p.S14S|DAB1_ENST00000485760.1_5'UTR			O75553	DAB1_HUMAN	Dab, reelin signal transducer, homolog 1 (Drosophila)	14					cell differentiation|nervous system development					central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						CTTTCTTGGCGCTGGTTTTCA	0.443													27	64					0	0	0.00632	0	0	A	57756661	G	A	57756661	2	1	11	1	0	0	0	0	0	0	0	1	4241	1078	38	1		1	DAB1	1	57756661	Silent	SNP	G	TCGA-CS-5397-01A-01D-1893-08	24010915	57756661	191493960	4	430											
CDC14A	8556	broad.mit.edu	37	1	100818540	100818540	+	Silent	SNP	G	G	T			TCGA-CS-5397-01A-01D-1893-08	TCGA-CS-5397-10A-03D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9932b51d-ebd9-4cbc-8c8c-83a5661a16c0	41c76fb1-1c57-4b6b-92f9-835ea17dbe23	g.chr1:100818540G>T	ENST00000370125.2	+	1	518	c.30G>T	c.(28-30)ggG>ggT	p.G10G	CDC14A_ENST00000361544.6_Silent_p.G10G|CDC14A_ENST00000336454.3_Silent_p.G10G|CDC14A_ENST00000544534.1_Silent_p.G10G|CDC14A_ENST00000542213.1_Intron|CDC14A_ENST00000370124.3_Silent_p.G10G			Q9UNH5	CC14A_HUMAN	cell division cycle 14A	10	A.				cell cycle|cell division|cell proliferation	centrosome|nucleus|spindle	protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			breast(1)|endometrium(5)|kidney(6)|large_intestine(6)|lung(10)|skin(2)|urinary_tract(1)	31		all_epithelial(167;3.71e-06)|all_lung(203;0.00097)|Lung NSC(277;0.001)		Epithelial(280;0.0676)|all cancers(265;0.127)|COAD - Colon adenocarcinoma(174;0.201)|Lung(183;0.227)|Colorectal(144;0.241)		AACTAATCGGGGCTTGTGAGT	0.627													18	49					6.33239e-15	8.02102e-15	0.010504	1	0	T	100818540	G	T	100818540	2	4	11	1	0	0	0	0	0	0	0	1	3078	1219	43	5		5	CDC14A	1	100818540	Silent	SNP	G	TCGA-CS-5397-01A-01D-1893-08	43061879	100818540	148432081	5	431											
PLEK	5341	broad.mit.edu	37	2	68620306	68620306	+	Missense_Mutation	SNP	A	A	G			TCGA-CS-5397-01A-01D-1893-08	TCGA-CS-5397-10A-03D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9932b51d-ebd9-4cbc-8c8c-83a5661a16c0	41c76fb1-1c57-4b6b-92f9-835ea17dbe23	g.chr2:68620306A>G	ENST00000234313.7	+	7	954	c.775A>G	c.(775-777)Aaa>Gaa	p.K259E		NM_002664.2	NP_002655.2	P08567	PLEK_HUMAN	pleckstrin	259	PH 2.				actin cytoskeleton reorganization|cortical actin cytoskeleton organization|hemopoietic progenitor cell differentiation|inhibition of phospholipase C activity involved in G-protein coupled receptor signaling pathway|integrin-mediated signaling pathway|negative regulation of calcium-mediated signaling|negative regulation of inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|platelet aggregation|positive regulation of actin filament bundle assembly|positive regulation of actin filament depolymerization|positive regulation of inositol-polyphosphate 5-phosphatase activity|positive regulation of integrin activation|positive regulation of platelet activation|protein kinase C signaling cascade|protein secretion by platelet|regulation of cell diameter|ruffle organization|thrombin receptor signaling pathway|vesicle docking involved in exocytosis	cytosol|extracellular region|membrane fraction|ruffle membrane|soluble fraction	phosphatidylinositol-3,4-bisphosphate binding|protein homodimerization activity|protein kinase C binding			autonomic_ganglia(1)|endometrium(3)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	24		Ovarian(717;0.0129)		STAD - Stomach adenocarcinoma(1183;0.00159)|READ - Rectum adenocarcinoma(193;0.0419)		GCATAGAAGGAAAAACTGGAA	0.433													51	127					0	0	0.01441	0	0	G	68620306	A	G	68620306	3	3	11	1	0	0	0	0	1	0	0	0	12101	247	9	3	801	3	PLEK	2	68620306	Missense_Mutation	SNP	A	TCGA-CS-5397-01A-01D-1893-08		68620306	174579067	6	432											
ANTXR1	84168	broad.mit.edu	37	2	69409664	69409664	+	Missense_Mutation	SNP	A	A	G			TCGA-CS-5397-01A-01D-1893-08	TCGA-CS-5397-10A-03D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9932b51d-ebd9-4cbc-8c8c-83a5661a16c0	41c76fb1-1c57-4b6b-92f9-835ea17dbe23	g.chr2:69409664A>G	ENST00000303714.4	+	16	1547	c.1225A>G	c.(1225-1227)Aag>Gag	p.K409E		NM_032208.2	NP_115584.1	Q9H6X2	ANTR1_HUMAN	anthrax toxin receptor 1	409					actin cytoskeleton reorganization|substrate adhesion-dependent cell spreading	filopodium membrane|integral to membrane|lamellipodium membrane	actin filament binding|collagen binding|metal ion binding|protein binding|transmembrane receptor activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						AGAAGGTGCTAAGTTGGAAAA	0.433									Familial Infantile Hemangioma				23	46					0	0	0.014323	0	0	G	69409664	A	G	69409664	3	3	11	1	0	0	0	0	1	0	0	0	705	363	13	3	1364	3	ANTXR1	2	69409664	Missense_Mutation	SNP	A	TCGA-CS-5397-01A-01D-1893-08	789358	69409664	173789709	7	433											
SF3B1	23451	broad.mit.edu	37	2	198273241	198273241	+	Silent	SNP	A	A	G			TCGA-CS-5397-01A-01D-1893-08	TCGA-CS-5397-10A-03D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9932b51d-ebd9-4cbc-8c8c-83a5661a16c0	41c76fb1-1c57-4b6b-92f9-835ea17dbe23	g.chr2:198273241A>G	ENST00000335508.6	-	8	1060	c.969T>C	c.(967-969)atT>atC	p.I323I		NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa		Interaction with PPP1R8.				nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding			NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			GTGTTTCACCAATAGAATCTC	0.468			Mis		myelodysplastic syndrome								31	71					0	0	0.010818	0	0	G	198273241	A	G	198273241	2	3	11	1	0	0	0	0	0	0	0	1	14203	126	5	3		3	SF3B1	2	198273241	Silent	SNP	A	TCGA-CS-5397-01A-01D-1893-08	128863577	198273241	44926132	8	434											
VGLL3	389136	broad.mit.edu	37	3	87027678	87027678	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-5397-01A-01D-1893-08	TCGA-CS-5397-10A-03D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9932b51d-ebd9-4cbc-8c8c-83a5661a16c0	41c76fb1-1c57-4b6b-92f9-835ea17dbe23	g.chr3:87027678C>T	ENST00000398399.2	-	2	764	c.401G>A	c.(400-402)cGa>cAa	p.R134Q	VGLL3_ENST00000383698.3_Missense_Mutation_p.R134Q	NM_016206.2	NP_057290.2	A8MV65	VGLL3_HUMAN	vestigial like 3 (Drosophila)	134					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(11)	19	all_cancers(8;0.109)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)		ATTCTTACCTCGCCATAGGGG	0.502													34	97					0	0	0.003271	0	0	T	87027678	C	T	87027678	3	4	11	1	0	0	0	0	1	0	0	0	17220	884	31	1	591	1	VGLL3	3	87027678	Missense_Mutation	SNP	C	TCGA-CS-5397-01A-01D-1893-08		87027678	110994752	9	435											
PDE6B	5158	broad.mit.edu	37	4	619541	619541	+	Silent	SNP	G	G	A			TCGA-CS-5397-01A-01D-1893-08	TCGA-CS-5397-10A-03D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9932b51d-ebd9-4cbc-8c8c-83a5661a16c0	41c76fb1-1c57-4b6b-92f9-835ea17dbe23	g.chr4:619541G>A	ENST00000255622.6	+	1	169	c.126G>A	c.(124-126)ccG>ccA	p.P42P	PDE6B_ENST00000496514.1_Silent_p.P42P	NM_000283.3|NM_001145291.1	NP_000274.2|NP_001138763	P35913	PDE6B_HUMAN	phosphodiesterase 6B, cGMP-specific, rod, beta	42					cytosolic calcium ion homeostasis|GMP metabolic process|phototransduction, visible light|platelet activation|visual perception	cytosol|membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30						GGTGCCCGCCGGACTGCGACA	0.642													17	36					0	0	0.007413	0	0	A	619541	G	A	619541	2	1	11	1	0	0	0	0	0	0	0	1	11693	1103	39	1		1	PDE6B	4	619541	Silent	SNP	G	TCGA-CS-5397-01A-01D-1893-08		619541	190534735	10	436											
WDFY3	23001	broad.mit.edu	37	4	85612794	85612794	+	Missense_Mutation	SNP	T	T	A			TCGA-CS-5397-01A-01D-1893-08	TCGA-CS-5397-10A-03D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9932b51d-ebd9-4cbc-8c8c-83a5661a16c0	41c76fb1-1c57-4b6b-92f9-835ea17dbe23	g.chr4:85612794T>A	ENST00000322366.6	-	59	9550	c.9143A>T	c.(9142-9144)gAg>gTg	p.E3048V	WDFY3_ENST00000295888.4_Missense_Mutation_p.E3065V			Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	3065						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		CTTGTCTGACTCATAGGTTCC	0.438													28	52					0	0	0.012213	0	0	A	85612794	T	A	85612794	3	1	11	1	0	0	0	0	1	0	0	0	17330	1551	54	5	1422	5	WDFY3	4	85612794	Missense_Mutation	SNP	T	TCGA-CS-5397-01A-01D-1893-08	84993253	85612794	105541482	11	437											
FSTL5	56884	broad.mit.edu	37	4	162463805	162463805	+	Silent	SNP	T	T	C			TCGA-CS-5397-01A-01D-1893-08	TCGA-CS-5397-10A-03D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9932b51d-ebd9-4cbc-8c8c-83a5661a16c0	41c76fb1-1c57-4b6b-92f9-835ea17dbe23	g.chr4:162463805T>C	ENST00000306100.5	-	9	1492	c.1056A>G	c.(1054-1056)agA>agG	p.R352R	FSTL5_ENST00000536695.1_Silent_p.R351R|FSTL5_ENST00000427802.2_Silent_p.R351R|FSTL5_ENST00000511170.1_5'UTR|FSTL5_ENST00000379164.4_Silent_p.R351R	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	352	Ig-like 2.					extracellular region	calcium ion binding			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		CCCCAGGCTCTCTAGCCTGAC	0.423													33	78					0	0	0.005524	0	0	C	162463805	T	C	162463805	2	2	11	1	0	0	0	0	0	0	0	1	6115	1548	54	3		3	FSTL5	4	162463805	Silent	SNP	T	TCGA-CS-5397-01A-01D-1893-08	76851011	162463805	28690471	12	438											
DNAH5	1767	broad.mit.edu	37	5	13923478	13923478	+	Missense_Mutation	SNP	C	C	T	rs116128702	by1000genomes	TCGA-CS-5397-01A-01D-1893-08	TCGA-CS-5397-10A-03D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9932b51d-ebd9-4cbc-8c8c-83a5661a16c0	41c76fb1-1c57-4b6b-92f9-835ea17dbe23	g.chr5:13923478C>T	ENST00000265104.4	-	4	453	c.349G>A	c.(349-351)Gag>Aag	p.E117K		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	117	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TCGTTTCCCTCGGTCACGAAC	0.448									Kartagener syndrome				67	134					0	0	0.01441	0	0	T	13923478	C	T	13923478	3	4	11	1	0	0	0	0	1	0	0	0	4632	893	31	1	13829	1	DNAH5	5	13923478	Missense_Mutation	SNP	C	TCGA-CS-5397-01A-01D-1893-08		13923478	166991782	13	439											
PCDHB1	29930	broad.mit.edu	37	5	140431875	140431875	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CS-5397-01A-01D-1893-08	TCGA-CS-5397-10A-03D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9932b51d-ebd9-4cbc-8c8c-83a5661a16c0	41c76fb1-1c57-4b6b-92f9-835ea17dbe23	g.chr5:140431875delA	ENST00000306549.3	+	1	897	c.820delA	c.(820-822)aacfs	p.N274fs		NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN		274	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGAGGGCACCAACAAAGCGAT	0.512													14	47	---	---	---	---						-	140431875	A	-	140431875	7	5	11	1	0	1	0	1	0	0	0	0	11581	130	5	0	822	0	PCDHB1	5	140431875	Frame_Shift_Del	DEL	A	TCGA-CS-5397-01A-01D-1893-08	126508397	140431875	40483385	14	440											
GABRG2	2566	broad.mit.edu	37	5	161580182	161580182	+	Silent	SNP	C	C	T			TCGA-CS-5397-01A-01D-1893-08	TCGA-CS-5397-10A-03D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9932b51d-ebd9-4cbc-8c8c-83a5661a16c0	41c76fb1-1c57-4b6b-92f9-835ea17dbe23	g.chr5:161580182C>T	ENST00000356592.3	+	10	1696	c.1236C>T	c.(1234-1236)taC>taT	p.Y412Y	GABRG2_ENST00000414552.2_Silent_p.Y452Y|GABRG2_ENST00000393933.4_Silent_p.Y309Y|GABRG2_ENST00000361925.4_Silent_p.Y404Y	NM_000816.3|NM_198904.2	NP_000807.2|NP_944494.1	P18507	GBRG2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 2	404					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)		ATGAAGAGTACGGCTATGAGT	0.488													7	131					0	0	0.001984	0	0	T	161580182	C	T	161580182	2	4	11	1	0	0	0	0	0	0	0	1	6207	547	19	1		1	GABRG2	5	161580182	Silent	SNP	C	TCGA-CS-5397-01A-01D-1893-08	21148307	161580182	19335078	15	441											
ULBP1	80329	broad.mit.edu	37	6	150289853	150289853	+	Missense_Mutation	SNP	T	T	A			TCGA-CS-5397-01A-01D-1893-08	TCGA-CS-5397-10A-03D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9932b51d-ebd9-4cbc-8c8c-83a5661a16c0	41c76fb1-1c57-4b6b-92f9-835ea17dbe23	g.chr6:150289853T>A	ENST00000229708.3	+	2	239	c.196T>A	c.(196-198)Tgt>Agt	p.C66S		NM_025218.2	NP_079494.1	Q9BZM6	N2DL1_HUMAN	UL16 binding protein 1		MHC class I alpha-1 like.				antigen processing and presentation|immune response|natural killer cell activation|regulation of immune response	anchored to membrane|endoplasmic reticulum|MHC class I protein complex	MHC class I receptor activity			large_intestine(3)|lung(5)|pancreas(1)|skin(1)	10		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.14e-11)		TCACTATGACTGTGTTAACCA	0.453													60	71					0	0	0.01441	0	0	A	150289853	T	A	150289853	3	1	11	1	0	0	0	0	1	0	0	0	17032	1580	55	5	202	5	ULBP1	6	150289853	Missense_Mutation	SNP	T	TCGA-CS-5397-01A-01D-1893-08		150289853	20825214	16	442											
C7orf34	135927	broad.mit.edu	37	7	142637545	142637545	+	Silent	SNP	G	G	A			TCGA-CS-5397-01A-01D-1893-08	TCGA-CS-5397-10A-03D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9932b51d-ebd9-4cbc-8c8c-83a5661a16c0	41c76fb1-1c57-4b6b-92f9-835ea17dbe23	g.chr7:142637545G>A	ENST00000409607.3	+	2	356	c.315G>A	c.(313-315)acG>acA	p.T105T		NM_178829.4	NP_849151.2	Q96L11	CG034_HUMAN	chromosome 7 open reading frame 34	80						extracellular region				large_intestine(1)|lung(4)	5	Melanoma(164;0.059)					CGTCCAAGACGGCAGCTGTTC	0.532													48	174					0	0	0.01441	0	0	A	142637545	G	A	142637545	2	1	11	1	0	0	0	0	0	0	0	1	2405	1103	39	1		1	C7orf34	7	142637545	Silent	SNP	G	TCGA-CS-5397-01A-01D-1893-08		142637545	16501118	17	443											
PSD3	23362	broad.mit.edu	37	8	18725328	18725328	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CS-5397-01A-01D-1893-08	TCGA-CS-5397-10A-03D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9932b51d-ebd9-4cbc-8c8c-83a5661a16c0	41c76fb1-1c57-4b6b-92f9-835ea17dbe23	g.chr8:18725328G>C	ENST00000440756.2	-	4	1592	c.1490C>G	c.(1489-1491)tCa>tGa	p.S497*	PSD3_ENST00000327040.8_Nonsense_Mutation_p.S497*|PSD3_ENST00000523619.1_Nonsense_Mutation_p.S432*			Q9NYI0	PSD3_HUMAN	pleckstrin and Sec7 domain containing 3	497					regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		TCCTCCCCCTGATGTCCTCTC	0.488													74	180					0	0	0.01441	0	0	C	18725328	G	C	18725328	4	2	11	1	0	0	0	0	0	1	0	0	12697	1294	45	5	1741	5	PSD3	8	18725328	Nonsense_Mutation	SNP	G	TCGA-CS-5397-01A-01D-1893-08		18725328	127638694	18	444											
TLN1	7094	broad.mit.edu	37	9	35714763	35714763	+	Missense_Mutation	SNP	G	G	C			TCGA-CS-5397-01A-01D-1893-08	TCGA-CS-5397-10A-03D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9932b51d-ebd9-4cbc-8c8c-83a5661a16c0	41c76fb1-1c57-4b6b-92f9-835ea17dbe23	g.chr9:35714763G>C	ENST00000314888.9	-	22	3218	c.2865C>G	c.(2863-2865)agC>agG	p.S955R	TLN1_ENST00000540444.1_Missense_Mutation_p.S955R	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	955					axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			TTACCTTGCAGCTCTGCACCA	0.597													11	184					0	0	0.010729	0	0	C	35714763	G	C	35714763	3	2	11	1	0	0	0	0	1	0	0	0	16007	962	34	4	4904	4	TLN1	9	35714763	Missense_Mutation	SNP	G	TCGA-CS-5397-01A-01D-1893-08		35714763	105498668	19	445											
FAM120A	23196	broad.mit.edu	37	9	96326729	96326729	+	Silent	SNP	C	C	T			TCGA-CS-5397-01A-01D-1893-08	TCGA-CS-5397-10A-03D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9932b51d-ebd9-4cbc-8c8c-83a5661a16c0	41c76fb1-1c57-4b6b-92f9-835ea17dbe23	g.chr9:96326729C>T	ENST00000277165.6	+	18	3458	c.3264C>T	c.(3262-3264)tgC>tgT	p.C1088C	FAM120A_ENST00000340893.4_Silent_p.C1042C|FAM120A_ENST00000333936.5_Silent_p.C1116C	NM_014612.3	NP_055427.2	Q9NZB2	F120A_HUMAN	family with sequence similarity 120A	1088	RNA binding.					cytoplasm|plasma membrane	RNA binding			endometrium(5)|kidney(3)|large_intestine(8)|lung(12)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						CTAAAACGTGCAATACAAATC	0.502													10	171					0	0	0.001855	0	0	T	96326729	C	T	96326729	2	4	11	1	0	0	0	0	0	0	0	1	5446	718	25	2		2	FAM120A	9	96326729	Silent	SNP	C	TCGA-CS-5397-01A-01D-1893-08	60611966	96326729	44886702	20	446											
KIAA0368	23392	broad.mit.edu	37	9	114246646	114246646	+	Silent	SNP	A	A	C			TCGA-CS-5397-01A-01D-1893-08	TCGA-CS-5397-10A-03D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9932b51d-ebd9-4cbc-8c8c-83a5661a16c0	41c76fb1-1c57-4b6b-92f9-835ea17dbe23	g.chr9:114246646A>C	ENST00000259335.4	-	2	266	c.267T>G	c.(265-267)ccT>ccG	p.P89P		NM_001080398.1	NP_001073867.1			KIAA0368											NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						GCCTGTCCAAAGGAAGAGACG	0.697													9	24					0	0	0.010729	0	0	C	114246646	A	C	114246646	2	2	11	1	0	0	0	0	0	0	0	1	8213	59	3	5		5	KIAA0368	9	114246646	Silent	SNP	A	TCGA-CS-5397-01A-01D-1893-08	17919917	114246646	26966785	21	447											
RRM1	6240	broad.mit.edu	37	11	4159521	4159521	+	Missense_Mutation	SNP	G	G	A	rs112706528		TCGA-CS-5397-01A-01D-1893-08	TCGA-CS-5397-10A-03D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9932b51d-ebd9-4cbc-8c8c-83a5661a16c0	41c76fb1-1c57-4b6b-92f9-835ea17dbe23	g.chr11:4159521G>A	ENST00000300738.5	+	19	2491	c.2287G>A	c.(2287-2289)Gta>Ata	p.V763I	RRM1_ENST00000423050.2_Missense_Mutation_p.V666I|RRM1_ENST00000537197.1_Missense_Mutation_p.V425I|RRM1_ENST00000534285.1_Missense_Mutation_p.V541I	NM_001033.3	NP_001024.1	P23921	RIR1_HUMAN	ribonucleotide reductase M1	763					deoxyribonucleotide biosynthetic process|DNA replication|nucleobase, nucleoside and nucleotide interconversion	cytosol|nucleoplasm|ribonucleoside-diphosphate reductase complex	ATP binding|ribonucleoside-diphosphate reductase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2)	14		Medulloblastoma(188;0.0025)|Breast(177;0.00502)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0848)|LUSC - Lung squamous cell carcinoma(625;0.205)	Clofarabine(DB00631)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Hydroxyurea(DB01005)	TAAAGAAAAGGTATCAAAAGA	0.418													17	55					0	0	0.006122	0	0	A	4159521	G	A	4159521	3	1	11	1	0	0	0	0	1	0	0	0	13733	1261	44	2	2361	2	RRM1	11	4159521	Missense_Mutation	SNP	G	TCGA-CS-5397-01A-01D-1893-08		4159521	130846995	22	448											
OR4S1	256148	broad.mit.edu	37	11	48328354	48328354	+	Missense_Mutation	SNP	G	G	T			TCGA-CS-5397-01A-01D-1893-08	TCGA-CS-5397-10A-03D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9932b51d-ebd9-4cbc-8c8c-83a5661a16c0	41c76fb1-1c57-4b6b-92f9-835ea17dbe23	g.chr11:48328354G>T	ENST00000319988.1	+	1	580	c.580G>T	c.(580-582)Ggt>Tgt	p.G194C		NM_001004725.1	NP_001004725.1	Q8NGB4	OR4S1_HUMAN	olfactory receptor, family 4, subfamily S, member 1	194					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|skin(3)	21						CTACATGGTAGGTCTCATCGT	0.453													41	64					6.45866e-13	8.04685e-13	0.00874	1	0	T	48328354	G	T	48328354	3	4	11	1	0	0	0	0	1	0	0	0	11130	1000	35	4	582	4	OR4S1	11	48328354	Missense_Mutation	SNP	G	TCGA-CS-5397-01A-01D-1893-08	44168833	48328354	86678162	23	449											
OR8K1	390157	broad.mit.edu	37	11	56113589	56113589	+	Missense_Mutation	SNP	C	C	A			TCGA-CS-5397-01A-01D-1893-08	TCGA-CS-5397-10A-03D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9932b51d-ebd9-4cbc-8c8c-83a5661a16c0	41c76fb1-1c57-4b6b-92f9-835ea17dbe23	g.chr11:56113589C>A	ENST00000279783.2	+	1	169	c.75C>A	c.(73-75)gaC>gaA	p.D25E		NM_001002907.1	NP_001002907.1	Q8NGG5	OR8K1_HUMAN	olfactory receptor, family 8, subfamily K, member 1	25					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(8)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33	Esophageal squamous(21;0.00448)					GGATTACAGACAACCCTGGGC	0.443										HNSCC(65;0.19)			15	65					2.89027e-11	3.43219e-11	0.014323	1	0	A	56113589	C	A	56113589	3	1	11	1	0	0	0	0	1	0	0	0	11290	477	17	5	77	5	OR8K1	11	56113589	Missense_Mutation	SNP	C	TCGA-CS-5397-01A-01D-1893-08	7785235	56113589	78892927	24	450											
ZNF202	7753	broad.mit.edu	37	11	123601198	123601198	+	Silent	SNP	C	C	A			TCGA-CS-5397-01A-01D-1893-08	TCGA-CS-5397-10A-03D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9932b51d-ebd9-4cbc-8c8c-83a5661a16c0	41c76fb1-1c57-4b6b-92f9-835ea17dbe23	g.chr11:123601198C>A	ENST00000336139.4	-	3	761	c.399G>T	c.(397-399)cgG>cgT	p.R133R	ZNF202_ENST00000529691.1_Silent_p.R133R|ZNF202_ENST00000530393.1_Silent_p.R133R			O95125	ZN202_HUMAN	zinc finger protein 202	133					lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.03)		TCCTCACCCACCGCCTTGGTC	0.582													35	82					1.69901e-12	2.08266e-12	0.005524	1	0	A	123601198	C	A	123601198	2	1	11	1	0	0	0	0	0	0	0	1	17821	494	18	5		5	ZNF202	11	123601198	Silent	SNP	C	TCGA-CS-5397-01A-01D-1893-08	67487609	123601198	11405318	25	451											
FGF6	2251	broad.mit.edu	37	12	4553372	4553372	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-5397-01A-01D-1893-08	TCGA-CS-5397-10A-03D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9932b51d-ebd9-4cbc-8c8c-83a5661a16c0	41c76fb1-1c57-4b6b-92f9-835ea17dbe23	g.chr12:4553372C>T	ENST00000228837.2	-	2	420	c.377G>A	c.(376-378)gGc>gAc	p.G126D		NM_020996.1	NP_066276.2	P10767	FGF6_HUMAN	fibroblast growth factor 6	126					angiogenesis|cell proliferation|cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell division|positive regulation of cell proliferation	extracellular space	growth factor activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)			ACTCACCACGCCTCGCTCCAC	0.542													21	41					0	0	0.00278	0	0	T	4553372	C	T	4553372	3	4	11	1	0	0	0	0	1	0	0	0	5889	739	26	2	257	2	FGF6	12	4553372	Missense_Mutation	SNP	C	TCGA-CS-5397-01A-01D-1893-08		4553372	129298523	26	452											
PKP2	5318	broad.mit.edu	37	12	32974416	32974416	+	Silent	SNP	G	G	A			TCGA-CS-5397-01A-01D-1893-08	TCGA-CS-5397-10A-03D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9932b51d-ebd9-4cbc-8c8c-83a5661a16c0	41c76fb1-1c57-4b6b-92f9-835ea17dbe23	g.chr12:32974416G>A	ENST00000340811.4	-	9	1995	c.1887C>T	c.(1885-1887)ggC>ggT	p.G629G	PKP2_ENST00000070846.6_Silent_p.G673G	NM_001005242.2	NP_001005242.2	Q99959	PKP2_HUMAN	plakophilin 2	673					cell-cell adhesion	desmosome|integral to membrane|nucleus	binding			NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					GCCACTCCACGCCCTTGGGGT	0.493													22	72					0	0	0.00278	0	0	A	32974416	G	A	32974416	2	1	11	1	0	0	0	0	0	0	0	1	12033	1074	38	1		1	PKP2	12	32974416	Silent	SNP	G	TCGA-CS-5397-01A-01D-1893-08	28421044	32974416	100877479	27	453											
NOS1	4842	broad.mit.edu	37	12	117705872	117705872	+	Silent	SNP	A	A	G			TCGA-CS-5397-01A-01D-1893-08	TCGA-CS-5397-10A-03D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9932b51d-ebd9-4cbc-8c8c-83a5661a16c0	41c76fb1-1c57-4b6b-92f9-835ea17dbe23	g.chr12:117705872A>G	ENST00000317775.6	-	11	2602	c.1917T>C	c.(1915-1917)aaT>aaC	p.N639N	NOS1_ENST00000344089.3_3'UTR|NOS1_ENST00000338101.4_Silent_p.N639N	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN	nitric oxide synthase 1 (neuronal)	639					multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	GAACCGCGATATTGATCTCCA	0.512													29	62					0	0	0.010818	0	0	G	117705872	A	G	117705872	2	3	11	1	0	0	0	0	0	0	0	1	10588	446	16	3		3	NOS1	12	117705872	Silent	SNP	A	TCGA-CS-5397-01A-01D-1893-08	84731456	117705872	16146023	28	454											
TP53BP1	7158	broad.mit.edu	37	15	43714318	43714318	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CS-5397-01A-01D-1893-08	TCGA-CS-5397-10A-03D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9932b51d-ebd9-4cbc-8c8c-83a5661a16c0	41c76fb1-1c57-4b6b-92f9-835ea17dbe23	g.chr15:43714318C>A	ENST00000263801.3	-	19	4072	c.3820G>T	c.(3820-3822)Gaa>Taa	p.E1274*	TP53BP1_ENST00000450115.2_Nonsense_Mutation_p.E1279*|TP53BP1_ENST00000382039.3_Nonsense_Mutation_p.E1279*|TP53BP1_ENST00000382044.4_Nonsense_Mutation_p.E1279*	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	1274					double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		ATTGGCTCTTCAGTCTCCTGC	0.433								Other conserved DNA damage response genes					28	56					1.88708e-17	2.43082e-17	0.008361	1	0	A	43714318	C	A	43714318	4	1	11	1	0	0	0	0	0	1	0	0	16444	835	29	5	2138	5	TP53BP1	15	43714318	Nonsense_Mutation	SNP	C	TCGA-CS-5397-01A-01D-1893-08		43714318	58817074	29	455											
GDPD3	79153	broad.mit.edu	37	16	30119725	30119725	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CS-5397-01A-01D-1893-08	TCGA-CS-5397-10A-03D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9932b51d-ebd9-4cbc-8c8c-83a5661a16c0	41c76fb1-1c57-4b6b-92f9-835ea17dbe23	g.chr16:30119725delG	ENST00000406256.3	-	8	1113	c.736delC	c.(736-738)ctgfs	p.L246fs	RP11-455F5.4_ENST00000566190.1_RNA	NM_024307.2	NP_077283.2	Q7L5L3	GDPD3_HUMAN	glycerophosphodiester phosphodiesterase domain containing 3	246	GDPD.				glycerol metabolic process|lipid metabolic process	integral to membrane	glycerophosphodiester phosphodiesterase activity|metal ion binding			biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(6)	11						AACTGGTTCAGGCAAGAGCAG	0.577													128	214	---	---	---	---						-	30119725	G	-	30119725	7	5	11	1	0	1	0	1	0	0	0	0	6367	991	35	0	232	0	GDPD3	16	30119725	Frame_Shift_Del	DEL	G	TCGA-CS-5397-01A-01D-1893-08		30119725	60235028	30	456											
NF1	4763	broad.mit.edu	37	17	29563007	29563007	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CS-5397-01A-01D-1893-08	TCGA-CS-5397-10A-03D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9932b51d-ebd9-4cbc-8c8c-83a5661a16c0	41c76fb1-1c57-4b6b-92f9-835ea17dbe23	g.chr17:29563007G>A	ENST00000358273.4	+	29	4325	c.3942G>A	c.(3940-3942)tgG>tgA	p.W1314*	NF1_ENST00000356175.3_Nonsense_Mutation_p.W1314*	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1314	Ras-GAP.				actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		CCTCTGATTGGCAACATGTTA	0.348			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			31	43					0	0	0.013726	0	0	A	29563007	G	A	29563007	4	1	11	1	0	0	0	0	0	1	0	0	10403	1212	42	2	4117	2	NF1	17	29563007	Nonsense_Mutation	SNP	G	TCGA-CS-5397-01A-01D-1893-08		29563007	51632203	31	457											
SPACA3	124912	broad.mit.edu	37	17	31323997	31323997	+	Missense_Mutation	SNP	C	C	A			TCGA-CS-5397-01A-01D-1893-08	TCGA-CS-5397-10A-03D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9932b51d-ebd9-4cbc-8c8c-83a5661a16c0	41c76fb1-1c57-4b6b-92f9-835ea17dbe23	g.chr17:31323997C>A	ENST00000580599.1	+	4	682	c.273C>A	c.(271-273)aaC>aaA	p.N91K	SPACA3_ENST00000394637.2_3'UTR|SPACA3_ENST00000269053.3_Missense_Mutation_p.N160K|SPACA3_ENST00000394638.1_Missense_Mutation_p.N57K			Q8IXA5	SACA3_HUMAN	sperm acrosome associated 3	160					cell wall macromolecule catabolic process|defense response to Gram-positive bacterium|monocyte activation|peptidoglycan catabolic process|positive regulation of macrophage activation|positive regulation of phagocytosis|response to virus	acrosomal membrane|extracellular region|integral to membrane|lysosome	bacterial cell surface binding|lysozyme activity|protein binding			breast(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1)	18			BRCA - Breast invasive adenocarcinoma(9;0.193)			ACGTCCCCAACGTGTGCCGGA	0.582													32	40					1.414e-09	1.65329e-09	0.003755	1	0	A	31323997	C	A	31323997	3	1	11	1	0	0	0	0	1	0	0	0	15027	535	19	5	490	5	SPACA3	17	31323997	Missense_Mutation	SNP	C	TCGA-CS-5397-01A-01D-1893-08	1760990	31323997	49871213	32	458											
GH2	2689	broad.mit.edu	37	17	61957625	61957625	+	Missense_Mutation	SNP	C	C	A			TCGA-CS-5397-01A-01D-1893-08	TCGA-CS-5397-10A-03D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9932b51d-ebd9-4cbc-8c8c-83a5661a16c0	41c76fb1-1c57-4b6b-92f9-835ea17dbe23	g.chr17:61957625C>A	ENST00000456543.2	-	5	746	c.706G>T	c.(706-708)Gtg>Ttg	p.V236L	GH2_ENST00000423893.2_3'UTR|GH2_ENST00000332800.7_3'UTR|GH2_ENST00000449787.2_3'UTR			P01242	SOM2_HUMAN	growth hormone 2	0						extracellular region	hormone activity			breast(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	24						TGGAGTAGCACCTTCCACGAC	0.557													12	25					1.08611e-07	1.21389e-07	0.010729	1	0	A	61957625	C	A	61957625	3	1	11	1	0	0	0	0	1	0	0	0	6410	507	18	5	35	5	GH2	17	61957625	Missense_Mutation	SNP	C	TCGA-CS-5397-01A-01D-1893-08	30633628	61957625	19237585	33	459											
ACAA2	10449	broad.mit.edu	37	18	47311703	47311703	+	Missense_Mutation	SNP	G	G	A			TCGA-CS-5397-01A-01D-1893-08	TCGA-CS-5397-10A-03D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9932b51d-ebd9-4cbc-8c8c-83a5661a16c0	41c76fb1-1c57-4b6b-92f9-835ea17dbe23	g.chr18:47311703G>A	ENST00000285093.10	-	9	1448	c.973C>T	c.(973-975)Ccc>Tcc	p.P325S	ACAA2_ENST00000589432.1_Missense_Mutation_p.P270S|ACAA2_ENST00000587994.1_Missense_Mutation_p.P322S	NM_006111.2	NP_006102.2	P42765	THIM_HUMAN	acetyl-CoA acyltransferase 2	325					anti-apoptosis|cholesterol biosynthetic process		acetyl-CoA C-acyltransferase activity|protein binding			large_intestine(2)|lung(7)|ovary(1)	10						AAGTACTGGGGAGCAAAAGCT	0.403													5	24					0	0	0.000602	0	0	A	47311703	G	A	47311703	3	1	11	1	0	0	0	0	1	0	0	0	105	1174	41	2	228	2	ACAA2	18	47311703	Missense_Mutation	SNP	G	TCGA-CS-5397-01A-01D-1893-08		47311703	30765545	34	460											
SERPINB3	6317	broad.mit.edu	37	18	61326675	61326675	+	Silent	SNP	G	G	A			TCGA-CS-5397-01A-01D-1893-08	TCGA-CS-5397-10A-03D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9932b51d-ebd9-4cbc-8c8c-83a5661a16c0	41c76fb1-1c57-4b6b-92f9-835ea17dbe23	g.chr18:61326675G>A	ENST00000283752.5	-	4	452	c.309C>T	c.(307-309)atC>atT	p.I103I	SERPINB11_ENST00000489748.1_RNA|SERPINB3_ENST00000332821.8_Silent_p.I103I	NM_006919.2	NP_008850.1	P29508	SPB3_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 3	103					regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	36						GCTTGTTGGCGATCTTCAGCT	0.398													28	89					0	0	0.004656	0	0	A	61326675	G	A	61326675	2	1	11	1	0	0	0	0	0	0	0	1	14156	1048	37	1		1	SERPINB3	18	61326675	Silent	SNP	G	TCGA-CS-5397-01A-01D-1893-08	14014972	61326675	16750573	35	461											
UNC13A	23025	broad.mit.edu	37	19	17778978	17778978	+	Missense_Mutation	SNP	C	C	A			TCGA-CS-5397-01A-01D-1893-08	TCGA-CS-5397-10A-03D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9932b51d-ebd9-4cbc-8c8c-83a5661a16c0	41c76fb1-1c57-4b6b-92f9-835ea17dbe23	g.chr19:17778978C>A	ENST00000428389.2	-	7	679	c.680G>T	c.(679-681)cGc>cTc	p.R227L	UNC13A_ENST00000552293.1_Missense_Mutation_p.R139L|UNC13A_ENST00000519716.2_Missense_Mutation_p.R139L|UNC13A_ENST00000252773.7_Missense_Mutation_p.R139L|UNC13A_ENST00000550896.1_Missense_Mutation_p.R139L|UNC13A_ENST00000551649.1_Missense_Mutation_p.R139L			Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	139					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						GGCCCAGTAGCGAGCCTCCTC	0.582													12	30					5.50884e-06	6.0677e-06	0.013537	1	0	A	17778978	C	A	17778978	3	1	11	1	0	0	0	0	1	0	0	0	17044	768	27	5	4843	5	UNC13A	19	17778978	Missense_Mutation	SNP	C	TCGA-CS-5397-01A-01D-1893-08		17778978	41350005	36	462											
HAUS5	23354	broad.mit.edu	37	19	36108982	36108982	+	Missense_Mutation	SNP	A	A	G			TCGA-CS-5397-01A-01D-1893-08	TCGA-CS-5397-10A-03D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9932b51d-ebd9-4cbc-8c8c-83a5661a16c0	41c76fb1-1c57-4b6b-92f9-835ea17dbe23	g.chr19:36108982A>G	ENST00000203166.5	+	10	731	c.706A>G	c.(706-708)Aca>Gca	p.T236A	HAUS5_ENST00000379045.2_Missense_Mutation_p.T236A	NM_015302.1	NP_056117.1	O94927	HAUS5_HUMAN	HAUS augmin-like complex, subunit 5	236					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle				NS(1)|breast(2)|cervix(3)|endometrium(1)|large_intestine(2)|lung(5)|skin(2)	16						GACGCTGCTGACAAACCACCC	0.637													44	142					0	0	0.007835	0	0	G	36108982	A	G	36108982	3	3	11	1	0	0	0	0	1	0	0	0	7010	275	10	3	744	3	HAUS5	19	36108982	Missense_Mutation	SNP	A	TCGA-CS-5397-01A-01D-1893-08	18330004	36108982	23020001	37	463											
TRPC4AP	26133	broad.mit.edu	37	20	33657162	33657162	+	Missense_Mutation	SNP	C	C	A			TCGA-CS-5397-01A-01D-1893-08	TCGA-CS-5397-10A-03D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9932b51d-ebd9-4cbc-8c8c-83a5661a16c0	41c76fb1-1c57-4b6b-92f9-835ea17dbe23	g.chr20:33657162C>A	ENST00000252015.2	-	3	440	c.351G>T	c.(349-351)agG>agT	p.R117S	TRPC4AP_ENST00000432634.2_Intron|TRPC4AP_ENST00000451813.2_Missense_Mutation_p.R117S			Q8TEL6	TP4AP_HUMAN	transient receptor potential cation channel, subfamily C, member 4 associated protein	117	Interaction with TNFRSF1A (By similarity).				protein ubiquitination|ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex	protein binding			breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|skin(1)|stomach(1)|urinary_tract(1)	32			BRCA - Breast invasive adenocarcinoma(18;0.00936)			GGGTAAGTTTCCTCTCTTCAG	0.333													15	105					4.7546e-09	5.475e-09	0.004007	1	0	A	33657162	C	A	33657162	3	1	11	1	0	0	0	0	1	0	0	0	16642	854	30	5	2110	5	TRPC4AP	20	33657162	Missense_Mutation	SNP	C	TCGA-CS-5397-01A-01D-1893-08		33657162	29368358	38	464											
ZNF831	128611	broad.mit.edu	37	20	57829784	57829784	+	Missense_Mutation	SNP	G	G	A			TCGA-CS-5397-01A-01D-1893-08	TCGA-CS-5397-10A-03D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9932b51d-ebd9-4cbc-8c8c-83a5661a16c0	41c76fb1-1c57-4b6b-92f9-835ea17dbe23	g.chr20:57829784G>A	ENST00000371030.2	+	5	5020	c.5020G>A	c.(5020-5022)Gtt>Att	p.V1674I		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1674						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					AGACCGATTAGTTATAGAAAT	0.443													15	78					0	0	0.004007	0	0	A	57829784	G	A	57829784	3	1	11	1	0	0	0	0	1	0	0	0	18232	1029	36	2	5038	2	ZNF831	20	57829784	Missense_Mutation	SNP	G	TCGA-CS-5397-01A-01D-1893-08	24172622	57829784	5195736	39	465											
TMEM27	57393	broad.mit.edu	37	X	15682843	15682843	+	Missense_Mutation	SNP	G	G	C			TCGA-CS-5397-01A-01D-1893-08	TCGA-CS-5397-10A-03D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9932b51d-ebd9-4cbc-8c8c-83a5661a16c0	41c76fb1-1c57-4b6b-92f9-835ea17dbe23	g.chrX:15682843G>C	ENST00000380342.3	-	1	311	c.56C>G	c.(55-57)cCa>cGa	p.P19R		NM_020665.4	NP_065716.1	Q9HBJ8	TMM27_HUMAN	transmembrane protein 27	19					proteolysis	integral to membrane	metallopeptidase activity|peptidyl-dipeptidase activity			endometrium(3)|lung(4)|ovary(1)	8	Hepatocellular(33;0.183)					CTACATACCTGGTTGACAGAG	0.363													33	63					0	0	0.004289	0	0	C	15682843	G	C	15682843	3	2	11	1	0	0	0	0	1	0	0	0	16212	1348	47	5	636	5	TMEM27	23	15682843	Missense_Mutation	SNP	G	TCGA-CS-5397-01A-01D-1893-08		15682843	139587717	40	466											
MAP7D2	256714	broad.mit.edu	37	X	20044027	20044027	+	Missense_Mutation	SNP	G	G	A			TCGA-CS-5397-01A-01D-1893-08	TCGA-CS-5397-10A-03D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9932b51d-ebd9-4cbc-8c8c-83a5661a16c0	41c76fb1-1c57-4b6b-92f9-835ea17dbe23	g.chrX:20044027G>A	ENST00000379651.3	-	8	946	c.928C>T	c.(928-930)Cct>Tct	p.P310S	MAP7D2_ENST00000452324.3_Missense_Mutation_p.P258S|MAP7D2_ENST00000379643.5_Missense_Mutation_p.P351S|MAP7D2_ENST00000466145.1_5'UTR|MAP7D2_ENST00000543767.1_Missense_Mutation_p.P195S|MAP7D2_ENST00000443379.3_Missense_Mutation_p.P265S	NM_152780.3	NP_689993.2	Q96T17	MA7D2_HUMAN	MAP7 domain containing 2	310										NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	37						GGGTAGGGAGGTTTCGTTGTC	0.488													99	245					0	0	0.01441	0	0	A	20044027	G	A	20044027	3	1	11	1	0	0	0	0	1	0	0	0	9318	1261	44	2	1302	2	MAP7D2	23	20044027	Missense_Mutation	SNP	G	TCGA-CS-5397-01A-01D-1893-08	4361184	20044027	135226533	41	467											
DMD	1756	broad.mit.edu	37	X	31747756	31747756	+	Missense_Mutation	SNP	G	G	A			TCGA-CS-5397-01A-01D-1893-08	TCGA-CS-5397-10A-03D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9932b51d-ebd9-4cbc-8c8c-83a5661a16c0	41c76fb1-1c57-4b6b-92f9-835ea17dbe23	g.chrX:31747756G>A	ENST00000357033.4	-	52	7858	c.7652C>T	c.(7651-7653)aCg>aTg	p.T2551M	DMD_ENST00000541735.1_Missense_Mutation_p.T91M|DMD_ENST00000474231.1_Missense_Mutation_p.T91M|DMD_ENST00000343523.2_Missense_Mutation_p.T91M|DMD_ENST00000378707.3_Missense_Mutation_p.T91M|DMD_ENST00000359836.1_Missense_Mutation_p.T91M|DMD_ENST00000378677.2_Missense_Mutation_p.T2547M	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	2551					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	p.T2546M(2)|p.T91M(2)|p.T2547M(2)|p.T1210M(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				ACTTCGATCCGTAATGATTGT	0.393													69	157					0	0	0.01441	0	0	A	31747756	G	A	31747756	3	1	11	1	0	0	0	0	1	0	0	0	4608	1145	40	1	3665	1	DMD	23	31747756	Missense_Mutation	SNP	G	TCGA-CS-5397-01A-01D-1893-08	11703729	31747756	123522804	42	468											
BCOR	54880	broad.mit.edu	37	X	39932304	39932304	+	Silent	SNP	G	G	A			TCGA-CS-5397-01A-01D-1893-08	TCGA-CS-5397-10A-03D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9932b51d-ebd9-4cbc-8c8c-83a5661a16c0	41c76fb1-1c57-4b6b-92f9-835ea17dbe23	g.chrX:39932304G>A	ENST00000342274.4	-	4	2657	c.2295C>T	c.(2293-2295)tcC>tcT	p.S765S	BCOR_ENST00000378444.4_Silent_p.S765S|BCOR_ENST00000378455.4_Silent_p.S765S|BCOR_ENST00000397354.3_Silent_p.S765S	NM_001123383.1	NP_001116855.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	765					heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						CCAAAATCTCGGAAAACCGAT	0.512			"F, N, S, T"	RARA	"retinoblastoma, AML, APL(translocation)"		oculo-facio-cardio-dental genetic						99	209					0	0	0.01441	0	0	A	39932304	G	A	39932304	2	1	11	1	0	0	0	0	0	0	0	1	1384	1103	39	1		1	BCOR	23	39932304	Silent	SNP	G	TCGA-CS-5397-01A-01D-1893-08	8184548	39932304	115338256	43	469											
ZNF41	7592	broad.mit.edu	37	X	47308566	47308566	+	Missense_Mutation	SNP	G	G	T			TCGA-CS-5397-01A-01D-1893-08	TCGA-CS-5397-10A-03D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9932b51d-ebd9-4cbc-8c8c-83a5661a16c0	41c76fb1-1c57-4b6b-92f9-835ea17dbe23	g.chrX:47308566G>T	ENST00000377065.4	-	5	1242	c.603C>A	c.(601-603)aaC>aaA	p.N201K	ZNF41_ENST00000313116.7_Missense_Mutation_p.N201K|ZNF41_ENST00000397050.2_Missense_Mutation_p.N211K	NM_153380.2	NP_700359.1	P51814	ZNF41_HUMAN	zinc finger protein 41	243						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.N201K(1)		breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|upper_aerodigestive_tract(2)	24		all_lung(315;0.000129)				GATTATGTGAGTTTAAAGTAT	0.328													46	117					6.87076e-12	8.28854e-12	0.01441	1	0	T	47308566	G	T	47308566	3	4	11	1	0	0	0	0	1	0	0	0	17946	1020	36	4	1740	4	ZNF41	23	47308566	Missense_Mutation	SNP	G	TCGA-CS-5397-01A-01D-1893-08	7376262	47308566	107961994	44	470											
SLC1A7	6512	broad.mit.edu	37	1	53553886	53553886	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr1:53553886C>T	ENST00000371494.4	-	11	1605	c.1478G>A	c.(1477-1479)tGc>tAc	p.C493Y	SLC1A7_ENST00000488036.1_5'UTR	NM_006671.4	NP_006662.3	O00341	EAA5_HUMAN	solute carrier family 1 (glutamate transporter), member 7	493						integral to membrane|plasma membrane	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26				Colorectal(1306;0.234)	L-Glutamic Acid(DB00142)	CTTGGTCTCGCAGGGCAGCAG	0.607													5	11					0	0	1	0	0	T	53553886	C	T	53553886	3	4	12	1	0	0	0	0	1	0	0	0	14492	710	25	2	208	2	SLC1A7	1	53553886	Missense_Mutation	SNP	C	TCGA-CS-6186-01A-12D-2024-08		53553886	195696735	1	471											
SELE	6401	broad.mit.edu	37	1	169698637	169698637	+	Missense_Mutation	SNP	G	G	A			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr1:169698637G>A	ENST00000333360.7	-	6	1032	c.893C>T	c.(892-894)aCg>aTg	p.T298M	SELE_ENST00000367779.4_Missense_Mutation_p.T298M|SELE_ENST00000367781.4_Missense_Mutation_p.T298M|SELE_ENST00000367780.4_Missense_Mutation_p.T236M|SELE_ENST00000367782.4_Missense_Mutation_p.T298M|C1orf112_ENST00000498289.1_Intron|SELE_ENST00000367777.1_Missense_Mutation_p.T298M|SELE_ENST00000367774.1_Missense_Mutation_p.T298M|SELE_ENST00000367776.1_Missense_Mutation_p.T298M|SELE_ENST00000367775.1_Missense_Mutation_p.T236M	NM_000450.2	NP_000441.2	P16581	LYAM2_HUMAN	selectin E	298	Sushi 2.				actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	all_hematologic(923;0.208)					ACCTTTACACGTTGGCTTCTC	0.443													34	33					0	0	1	0	0	A	169698637	G	A	169698637	3	1	12	1	0	0	0	0	1	0	0	0	14067	1145	40	1	971	1	SELE	1	169698637	Missense_Mutation	SNP	G	TCGA-CS-6186-01A-12D-2024-08	116144751	169698637	79551984	2	472											
CACNA1S	779	broad.mit.edu	37	1	201047161	201047161	+	Missense_Mutation	SNP	G	G	A	rs9333651		TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr1:201047161G>A	ENST00000362061.3	-	11	1691	c.1465C>T	c.(1465-1467)Cgc>Tgc	p.R489C	CACNA1S_ENST00000367338.3_Missense_Mutation_p.R489C	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	489					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	AAGTACTGGCGCAGGCCCAGC	0.582													24	37					0	0	1	0	0	A	201047161	G	A	201047161	3	1	12	1	0	0	0	0	1	0	0	0	2565	1087	38	1	4292	1	CACNA1S	1	201047161	Missense_Mutation	SNP	G	TCGA-CS-6186-01A-12D-2024-08	31348524	201047161	48203460	3	473											
USH2A	7399	broad.mit.edu	37	1	216251647	216251647	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr1:216251647G>A	ENST00000366943.2	-	27	5742	c.5356C>T	c.(5356-5358)Caa>Taa	p.Q1786*	RP11-22M7.2_ENST00000430890.1_RNA|USH2A_ENST00000307340.3_Nonsense_Mutation_p.Q1786*|RP11-22M7.2_ENST00000446411.1_RNA|RP11-22M7.2_ENST00000445619.1_RNA			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1786	Laminin G-like 2.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		AGATCCACTTGTGTAAAGGCA	0.348										HNSCC(13;0.011)			119	169					0	0	1	0	0	A	216251647	G	A	216251647	4	1	12	1	0	0	0	0	0	1	0	0	17096	1386	48	2	10436	2	USH2A	1	216251647	Nonsense_Mutation	SNP	G	TCGA-CS-6186-01A-12D-2024-08	15204486	216251647	32998974	4	474											
GREB1	9687	broad.mit.edu	37	2	11725320	11725320	+	Missense_Mutation	SNP	G	G	A			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr2:11725320G>A	ENST00000381486.2	+	8	1235	c.935G>A	c.(934-936)cGc>cAc	p.R312H	GREB1_ENST00000381483.2_Missense_Mutation_p.R312H|GREB1_ENST00000234142.5_Missense_Mutation_p.R312H|GREB1_ENST00000263834.5_Missense_Mutation_p.R312H	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	312						integral to membrane				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		CCCAAAAAACGCCACAAAGGG	0.512													14	11					0	0	1	0	0	A	11725320	G	A	11725320	3	1	12	1	0	0	0	0	1	0	0	0	6801	1087	38	1	961	1	GREB1	2	11725320	Missense_Mutation	SNP	G	TCGA-CS-6186-01A-12D-2024-08		11725320	231474053	5	475											
KCNS3	3790	broad.mit.edu	37	2	18113040	18113040	+	Silent	SNP	G	G	A			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr2:18113040G>A	ENST00000403915.1	+	3	1216	c.765G>A	c.(763-765)ctG>ctA	p.L255L	KCNS3_ENST00000304101.4_Silent_p.L255L|KCNS3_ENST00000465292.1_Intron	NM_001282428.1	NP_001269357.1	Q9BQ31	KCNS3_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 3	255					energy reserve metabolic process|regulation of insulin secretion	Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium channel regulator activity			endometrium(5)|kidney(1)|large_intestine(7)|lung(11)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					AAAACCCTCTGAACATCATTG	0.512													37	51					0	0	1	0	0	A	18113040	G	A	18113040	2	1	12	1	0	0	0	0	0	0	0	1	8134	1277	45	2		2	KCNS3	2	18113040	Silent	SNP	G	TCGA-CS-6186-01A-12D-2024-08	6387720	18113040	225086333	6	476											
CENPA	1058	broad.mit.edu	37	2	27016113	27016113	+	Missense_Mutation	SNP	G	G	A			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr2:27016113G>A	ENST00000335756.4	+	4	589	c.389G>A	c.(388-390)cGg>cAg	p.R130Q	CENPA_ENST00000475662.1_3'UTR|CENPA_ENST00000233505.8_Missense_Mutation_p.R104Q	NM_001809.3	NP_001800.1	P49450	CENPA_HUMAN	centromere protein A	130	H3-like.				CenH3-containing nucleosome assembly at centromere|establishment of mitotic spindle orientation|interspecies interaction between organisms|kinetochore assembly|mitotic prometaphase|protein localization to chromosome, centromeric region	condensed nuclear chromosome kinetochore|cytosol|nucleoplasm|nucleosome	chromatin binding|DNA binding|protein binding			endometrium(1)|large_intestine(3)|lung(3)|urinary_tract(1)	8	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CAACTGGCCCGGAGGATCCGG	0.552													60	113					0	0	1	0	0	A	27016113	G	A	27016113	3	1	12	1	0	0	0	0	1	0	0	0	3248	1116	39	1	403	1	CENPA	2	27016113	Missense_Mutation	SNP	G	TCGA-CS-6186-01A-12D-2024-08	8903073	27016113	216183260	7	477											
G6PC2	57818	broad.mit.edu	37	2	169764413	169764413	+	Missense_Mutation	SNP	T	T	G			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr2:169764413T>G	ENST00000375363.3	+	5	984	c.892T>G	c.(892-894)Ttg>Gtg	p.L298V	SPC25_ENST00000472216.2_Intron|G6PC2_ENST00000461586.1_3'UTR	NM_021176.2	NP_066999.1	Q9NQR9	G6PC2_HUMAN	glucose-6-phosphatase, catalytic, 2	298					gluconeogenesis|glucose homeostasis|glucose transport|regulation of insulin secretion|transmembrane transport	endoplasmic reticulum membrane|integral to membrane	glucose-6-phosphatase activity			breast(1)|endometrium(1)|large_intestine(1)|lung(5)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	13						GCTCTGTGCCTTGACCTCATT	0.473													37	70					0	0	1	0	0	G	169764413	T	G	169764413	3	3	12	1	0	0	0	0	1	0	0	0	6179	1606	56	5	910	5	G6PC2	2	169764413	Missense_Mutation	SNP	T	TCGA-CS-6186-01A-12D-2024-08	142748300	169764413	73434960	8	478											
TTN	7273	broad.mit.edu	37	2	179453437	179453437	+	Silent	SNP	C	C	T			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr2:179453437C>T	ENST00000589042.1	-	304	63239	c.63015G>A	c.(63013-63015)aaG>aaA	p.K21005K	TTN_ENST00000342175.6_Silent_p.K12132K|TTN_ENST00000591111.1_Silent_p.K19364K|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000342992.6_Silent_p.K18437K|TTN_ENST00000359218.5_Silent_p.K12065K|TTN_ENST00000460472.2_Silent_p.K11940K|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000589907.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	19364	Fibronectin type-III 52.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTGTTGAATGCTTTTCCTTTT	0.418													4	78					0	0	1	0	0	T	179453437	C	T	179453437	2	4	12	1	0	0	0	0	0	0	0	1	16797	796	28	2		2	TTN	2	179453437	Silent	SNP	C	TCGA-CS-6186-01A-12D-2024-08	9689024	179453437	63745936	9	479											
GPR55	9290	broad.mit.edu	37	2	231774733	231774733	+	Silent	SNP	C	C	T	rs146835586		TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr2:231774733C>T	ENST00000392040.1	-	2	1137	c.945G>A	c.(943-945)acG>acA	p.T315T	GPR55_ENST00000392039.2_Silent_p.T315T|AC012507.4_ENST00000454890.1_RNA	NM_005683.3	NP_005674.2	Q9Y2T6	GPR55_HUMAN	G protein-coupled receptor 55	315					activation of phospholipase C activity|bone resorption|negative regulation of osteoclast differentiation|positive regulation of ERK1 and ERK2 cascade|positive regulation of Rho protein signal transduction	integral to plasma membrane	cannabinoid receptor activity			endometrium(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Renal(207;0.0112)|all_lung(227;0.0741)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)|Lung NSC(271;0.204)		Epithelial(121;1.04e-11)|all cancers(144;4.22e-09)|LUSC - Lung squamous cell carcinoma(224;0.0119)|Lung(119;0.0145)		CCCGGGAGATCGTGGTGTCCT	0.552													30	36					0	0	1	0	0	T	231774733	C	T	231774733	2	4	12	1	0	0	0	0	0	0	0	1	6739	871	31	1		1	GPR55	2	231774733	Silent	SNP	C	TCGA-CS-6186-01A-12D-2024-08	52321296	231774733	11424640	10	480											
COL6A3	1293	broad.mit.edu	37	2	238275437	238275437	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr2:238275437C>T	ENST00000295550.4	-	11	5845	c.5393G>A	c.(5392-5394)cGc>cAc	p.R1798H	COL6A3_ENST00000353578.4_Missense_Mutation_p.R1592H|COL6A3_ENST00000472056.1_Missense_Mutation_p.R1191H|COL6A3_ENST00000347401.3_Missense_Mutation_p.R1597H|COL6A3_ENST00000409809.1_Missense_Mutation_p.R1592H|COL6A3_ENST00000346358.4_Missense_Mutation_p.R1598H	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1798	Nonhelical region.|VWFA 9.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	p.R1798H(1)		breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GTTGCCCACGCGGAACGCTGT	0.547													31	50					0	0	1	0	0	T	238275437	C	T	238275437	3	4	12	1	0	0	0	0	1	0	0	0	3724	768	27	1	4276	1	COL6A3	2	238275437	Missense_Mutation	SNP	C	TCGA-CS-6186-01A-12D-2024-08	6500704	238275437	4923936	11	481											
ITPR1	3708	broad.mit.edu	37	3	4819013	4819013	+	Silent	SNP	C	C	A			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr3:4819013C>A	ENST00000354582.6	+	47	6551	c.6201C>A	c.(6199-6201)atC>atA	p.I2067I	ITPR1_ENST00000423119.2_Silent_p.I2034I|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000302640.8_Silent_p.I2067I|ITPR1_ENST00000357086.4_Silent_p.I2034I|ITPR1_ENST00000456211.2_Silent_p.I2019I|ITPR1_ENST00000443694.2_Silent_p.I2067I			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	2082					activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		TCAATGATATCAATCCTTTGG	0.423													5	7					0.00198382	0.00200831	1	1	0	A	4819013	C	A	4819013	2	1	12	1	0	0	0	0	0	0	0	1	7964	816	29	5		5	ITPR1	3	4819013	Silent	SNP	C	TCGA-CS-6186-01A-12D-2024-08		4819013	193203417	12	482											
TTC21A	199223	broad.mit.edu	37	3	39179140	39179140	+	Missense_Mutation	SNP	G	G	C			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr3:39179140G>C	ENST00000301819.6	+	26	3815	c.3638G>C	c.(3637-3639)tGc>tCc	p.C1213S	TTC21A_ENST00000440121.1_Missense_Mutation_p.C1164S|TTC21A_ENST00000493856.1_3'UTR|TTC21A_ENST00000431162.2_Missense_Mutation_p.C1212S	NM_145755.2	NP_665698.2	Q8NDW8	TT21A_HUMAN	tetratricopeptide repeat domain 21A	1212							binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3)	50				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		GACATTTACTGCCAGGGCAGC	0.607													4	13					0	0	1	0	0	C	39179140	G	C	39179140	3	2	12	1	0	0	0	0	1	0	0	0	16749	1319	46	5	3740	5	TTC21A	3	39179140	Missense_Mutation	SNP	G	TCGA-CS-6186-01A-12D-2024-08	34360127	39179140	158843290	13	483											
GPR98	84059	broad.mit.edu	37	5	90136725	90136725	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr5:90136725C>T	ENST00000405460.2	+	78	17038	c.16942C>T	c.(16942-16944)Ctc>Ttc	p.L5648F	GPR98_ENST00000425867.2_Missense_Mutation_p.L1309F	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	5648					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		CAACAGAGTGCTCCATACCAT	0.423													16	23					0	0	1	0	0	T	90136725	C	T	90136725	3	4	12	1	0	0	0	0	1	0	0	0	6762	797	28	2	17252	2	GPR98	5	90136725	Missense_Mutation	SNP	C	TCGA-CS-6186-01A-12D-2024-08		90136725	90778535	14	484											
FCHSD1	89848	broad.mit.edu	37	5	141028985	141028985	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr5:141028985C>T	ENST00000435817.2	-	5	402	c.352G>A	c.(352-354)Gcc>Acc	p.A118T	FCHSD1_ENST00000519800.1_Missense_Mutation_p.A116T|FCHSD1_ENST00000522126.1_Missense_Mutation_p.A42T|FCHSD1_ENST00000522783.1_Missense_Mutation_p.A116T	NM_033449.2	NP_258260.1	Q86WN1	FCSD1_HUMAN	FCH and double SH3 domains 1	118									FCHSD1/BRAF(2)	central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCTCCTTGGCGCTCCGCCCT	0.612													68	137					0	0	1	0	0	T	141028985	C	T	141028985	3	4	12	1	0	0	0	0	1	0	0	0	5822	768	27	1	1784	1	FCHSD1	5	141028985	Missense_Mutation	SNP	C	TCGA-CS-6186-01A-12D-2024-08	50892260	141028985	39886275	15	485											
PCDH12	51294	broad.mit.edu	37	5	141335542	141335542	+	Missense_Mutation	SNP	A	A	T			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr5:141335542A>T	ENST00000231484.3	-	1	3085	c.1875T>A	c.(1873-1875)gaT>gaA	p.D625E		NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	protocadherin 12	625	Cadherin 6.				neuron recognition	integral to plasma membrane	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCGAGTCTGCATCTCTTGCCA	0.582													9	15					0	0	1	0	0	T	141335542	A	T	141335542	3	4	12	1	0	0	0	0	1	0	0	0	11557	214	8	4	1695	4	PCDH12	5	141335542	Missense_Mutation	SNP	A	TCGA-CS-6186-01A-12D-2024-08	306557	141335542	39579718	16	486											
SH3TC2	79628	broad.mit.edu	37	5	148411245	148411245	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr5:148411245C>T	ENST00000515425.1	-	9	1108	c.1007G>A	c.(1006-1008)aGg>aAg	p.R336K	SH3TC2_ENST00000538184.1_5'UTR|SH3TC2_ENST00000512049.1_Missense_Mutation_p.R329K|SH3TC2_ENST00000394358.2_Missense_Mutation_p.R221K|SH3TC2_ENST00000513340.1_5'UTR	NM_024577.3	NP_078853.2	Q8TF17	S3TC2_HUMAN	SH3 domain and tetratricopeptide repeats 2	336							binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCAGAGTTCCTGCTCCTGCA	0.522													17	16					0	0	1	0	0	T	148411245	C	T	148411245	3	4	12	1	0	0	0	0	1	0	0	0	14317	681	24	2	2895	2	SH3TC2	5	148411245	Missense_Mutation	SNP	C	TCGA-CS-6186-01A-12D-2024-08	7075703	148411245	32504015	17	487											
GRIA1	2890	broad.mit.edu	37	5	153056693	153056693	+	Missense_Mutation	SNP	G	G	A			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr5:153056693G>A	ENST00000285900.5	+	7	1344	c.1001G>A	c.(1000-1002)gGg>gAg	p.G334E	GRIA1_ENST00000340592.5_Missense_Mutation_p.G334E|GRIA1_ENST00000518142.1_Missense_Mutation_p.G254E|GRIA1_ENST00000518783.1_Missense_Mutation_p.G344E|GRIA1_ENST00000521843.2_Missense_Mutation_p.G265E|GRIA1_ENST00000448073.4_Missense_Mutation_p.G344E	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	334					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	TGGGGCCAAGGGATCGACATC	0.537													5	15					0	0	1	0	0	A	153056693	G	A	153056693	3	1	12	1	0	0	0	0	1	0	0	0	6808	1232	43	2	1027	2	GRIA1	5	153056693	Missense_Mutation	SNP	G	TCGA-CS-6186-01A-12D-2024-08	4645448	153056693	27858567	18	488											
HLA-DMB	3109	broad.mit.edu	37	6	32906668	32906668	+	Missense_Mutation	SNP	T	T	G			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr6:32906668T>G	ENST00000416244.2	-	2	324	c.130A>C	c.(130-132)Atc>Ctc	p.I44L	HLA-DMB_ENST00000418107.2_Missense_Mutation_p.I44L|XXbac-BPG181M17.5_ENST00000429234.1_Missense_Mutation_p.I76L			P28068	DMB_HUMAN	major histocompatibility complex, class II, DM beta	44	Beta-1.				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	integral to membrane|late endosome membrane|lysosomal membrane|MHC class II protein complex				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13						TTGAAGGAGATGCAGTATGTG	0.527													21	50					0	0	1	0	0	G	32906668	T	G	32906668	3	3	12	1	0	0	0	0	1	0	0	0	7240	1464	51	4	681	4	HLA-DMB	6	32906668	Missense_Mutation	SNP	T	TCGA-CS-6186-01A-12D-2024-08		32906668	138208399	19	489											
LAMA4	3910	broad.mit.edu	37	6	112469437	112469437	+	Missense_Mutation	SNP	G	G	C			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr6:112469437G>C	ENST00000230538.7	-	18	2672	c.2275C>G	c.(2275-2277)Cta>Gta	p.L759V	LAMA4_ENST00000522006.1_Missense_Mutation_p.L752V|LAMA4_ENST00000389463.4_Missense_Mutation_p.L752V|LAMA4_ENST00000424408.2_Missense_Mutation_p.L752V	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	759	Domain II and I.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		CAGTTGGTTAGATTGTTGGCC	0.517													26	7					0	0	1	0	0	C	112469437	G	C	112469437	3	2	12	1	0	0	0	0	1	0	0	0	8647	933	33	4	3284	4	LAMA4	6	112469437	Missense_Mutation	SNP	G	TCGA-CS-6186-01A-12D-2024-08	79562769	112469437	58645630	20	490											
TCTE3	6991	broad.mit.edu	37	6	170144257	170144257	+	Silent	SNP	C	C	T			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr6:170144257C>T	ENST00000366774.3	-	2	334	c.234G>A	c.(232-234)ctG>ctA	p.L78L		NM_174910.1	NP_777570.1	Q8IZS6	TC1D3_HUMAN	t-complex-associated-testis-expressed 3	78					transport	cytoplasm|dynein complex|membrane|microtubule	motor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|prostate(1)	4		Breast(66;0.000338)		OV - Ovarian serous cystadenocarcinoma(33;1.08e-21)|BRCA - Breast invasive adenocarcinoma(81;1.32e-07)|GBM - Glioblastoma multiforme(31;0.00157)		TTAATTTTGCCAGGGCACTCT	0.373													17	25					0	0	1	0	0	T	170144257	C	T	170144257	2	4	12	1	0	0	0	0	0	0	0	1	15777	581	21	2		2	TCTE3	6	170144257	Silent	SNP	C	TCGA-CS-6186-01A-12D-2024-08	57674820	170144257	970810	21	491											
ACTB	60	broad.mit.edu	37	7	5567243	5567243	+	Splice_Site	SNP	C	C	T			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr7:5567243C>T	ENST00000464611.1	-	3	254		c.e3-1		ACTB_ENST00000331789.5_3'UTR			P60709	ACTB_HUMAN	actin, beta						'de novo' posttranslational protein folding|adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement	cytoskeleton|cytosol|MLL5-L complex|NuA4 histone acetyltransferase complex|ribonucleoprotein complex	ATP binding|kinesin binding|nitric-oxide synthase binding|structural constituent of cytoskeleton			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(2)	8		Ovarian(82;0.0606)		UCEC - Uterine corpus endometrioid carcinoma (126;0.175)|OV - Ovarian serous cystadenocarcinoma(56;4.24e-37)		TTTTTAAATCCTGAGTCAAGC	0.398													8	14					0	0	1	0	0	T	5567243	C	T	5567243	5	4	12	1	0	0	0	0	0	0	1	0	193	696	24	2		2	ACTB	7	5567243	Splice_Site	SNP	C	TCGA-CS-6186-01A-12D-2024-08		5567243	153571420	22	492											
DYNC1I1	1780	broad.mit.edu	37	7	95657632	95657632	+	Splice_Site	SNP	C	C	T			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr7:95657632C>T	ENST00000324972.6	+	11	1359	c.1166C>T	c.(1165-1167)aCg>aTg	p.T389M	DYNC1I1_ENST00000359388.4_Splice_Site_p.T352M|DYNC1I1_ENST00000437599.1_Splice_Site_p.T369M|DYNC1I1_ENST00000457059.1_Splice_Site_p.T372M|DYNC1I1_ENST00000537881.1_Splice_Site_p.T352M|DYNC1I1_ENST00000447467.2_Splice_Site_p.T372M	NM_004411.4	NP_004402.1	O14576	DC1I1_HUMAN	dynein, cytoplasmic 1, intermediate chain 1	389					vesicle transport along microtubule	condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle	microtubule binding|microtubule motor activity	p.T389M(1)		NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	54	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		STAD - Stomach adenocarcinoma(171;0.0957)			GCTGCACACACGGTAATGCAA	0.493													24	55					0	0	1	0	0	T	95657632	C	T	95657632	5	4	12	1	0	0	0	0	0	0	1	0	4868	550	19	1	1204	1	DYNC1I1	7	95657632	Splice_Site	SNP	C	TCGA-CS-6186-01A-12D-2024-08	90090389	95657632	63481031	23	493											
LAMB1	3912	broad.mit.edu	37	7	107616242	107616242	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr7:107616242C>T	ENST00000393561.1	-	8	1337	c.1153G>A	c.(1153-1155)Gtg>Atg	p.V385M	LAMB1_ENST00000222399.6_Missense_Mutation_p.V361M|LAMB1_ENST00000393560.1_Missense_Mutation_p.V361M			P07942	LAMB1_HUMAN	laminin, beta 1	361	Laminin EGF-like 2.				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TCATCACACACGCCTCCGCTG	0.517													25	57					0	0	1	0	0	T	107616242	C	T	107616242	3	4	12	1	0	0	0	0	1	0	0	0	8649	536	19	1	4379	1	LAMB1	7	107616242	Missense_Mutation	SNP	C	TCGA-CS-6186-01A-12D-2024-08	11958610	107616242	51522421	24	494											
DOCK5	80005	broad.mit.edu	37	8	25198440	25198440	+	Missense_Mutation	SNP	G	G	A			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr8:25198440G>A	ENST00000276440.7	+	23	2419	c.2375G>A	c.(2374-2376)cGc>cAc	p.R792H		NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	792						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	p.R792H(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		AATTCAATTCGCCAGTTATTT	0.398													8	6					0	0	1	0	0	A	25198440	G	A	25198440	3	1	12	1	0	0	0	0	1	0	0	0	4717	1087	38	1	2465	1	DOCK5	8	25198440	Missense_Mutation	SNP	G	TCGA-CS-6186-01A-12D-2024-08		25198440	121165582	25	495											
ASAP1	50807	broad.mit.edu	37	8	131149272	131149272	+	Missense_Mutation	SNP	G	G	T			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr8:131149272G>T	ENST00000357668.1	-	13	1120	c.1093C>A	c.(1093-1095)Cca>Aca	p.P365T	ASAP1_ENST00000518721.1_Missense_Mutation_p.P365T			Q9ULH1	ASAP1_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	365	PH.				cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						AACTTGGCTGGTTGCCTGTTA	0.448													29	38					1.13719e-10	1.16562e-10	1	1	0	T	131149272	G	T	131149272	3	4	12	1	0	0	0	0	1	0	0	0	1009	1261	44	5	2364	5	ASAP1	8	131149272	Missense_Mutation	SNP	G	TCGA-CS-6186-01A-12D-2024-08	105950832	131149272	15214750	26	496											
MAMDC2	256691	broad.mit.edu	37	9	72724721	72724721	+	Splice_Site	SNP	G	G	A			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr9:72724721G>A	ENST00000377182.4	+	4	1122		c.e4+1		MAMDC2-AS1_ENST00000591368.1_RNA|MAMDC2-AS1_ENST00000414515.3_RNA	NM_153267.4	NP_694999.3	Q7Z304	MAMC2_HUMAN	MAM domain containing 2							endoplasmic reticulum|membrane				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	14						TACTGTATTGGTAAGTGGGCT	0.368													46	49					0	0	1	0	0	A	72724721	G	A	72724721	5	1	12	1	0	0	0	0	0	0	1	0	9253	1275	44	2	520	2	MAMDC2	9	72724721	Splice_Site	SNP	G	TCGA-CS-6186-01A-12D-2024-08		72724721	68488710	27	497											
OR1N1	138883	broad.mit.edu	37	9	125289214	125289214	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr9:125289214C>T	ENST00000304880.2	-	1	358	c.359G>A	c.(358-360)cGc>cAc	p.R120H		NM_012363.1	NP_036495.1	Q8NGS0	OR1N1_HUMAN	olfactory receptor, family 1, subfamily N, member 1	120					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|large_intestine(2)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						GGCCACATAGCGGTCATACGC	0.512													4	30					0	0	1	0	0	T	125289214	C	T	125289214	3	4	12	1	0	0	0	0	1	0	0	0	11017	768	27	1	580	1	OR1N1	9	125289214	Missense_Mutation	SNP	C	TCGA-CS-6186-01A-12D-2024-08	52564493	125289214	15924217	28	498											
GOLGA2	2801	broad.mit.edu	37	9	131022430	131022430	+	Silent	SNP	C	C	T			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr9:131022430C>T	ENST00000421699.2	-	18	1728	c.1716G>A	c.(1714-1716)tcG>tcA	p.S572S	GOLGA2_ENST00000609374.1_Silent_p.S560S	NM_004486.4	NP_004477.3	Q08379	GOGA2_HUMAN	golgin A2	572						Golgi cisterna membrane	protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34						CGTGCTGCTCCGACTGCAGTG	0.592													28	46					0	0	1	0	0	T	131022430	C	T	131022430	2	4	12	1	0	0	0	0	0	0	0	1	6594	639	23	1		1	GOLGA2	9	131022430	Silent	SNP	C	TCGA-CS-6186-01A-12D-2024-08	5733216	131022430	10191001	29	499											
ANKRD1	27063	broad.mit.edu	37	10	92678671	92678671	+	Missense_Mutation	SNP	A	A	G			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr10:92678671A>G	ENST00000371697.3	-	4	652	c.404T>C	c.(403-405)gTa>gCa	p.V135A		NM_014391.2	NP_055206.2	Q15327	ANKR1_HUMAN	ankyrin repeat domain 1 (cardiac muscle)	135					cellular lipid metabolic process|defense response|signal transduction		DNA binding			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|prostate(3)|skin(1)	27		Colorectal(252;0.0475)				TTTTTCTACTACTGGCAGTTT	0.343													18	18					0	0	1	0	0	G	92678671	A	G	92678671	3	3	12	1	0	0	0	0	1	0	0	0	633	391	14	3	579	3	ANKRD1	10	92678671	Missense_Mutation	SNP	A	TCGA-CS-6186-01A-12D-2024-08		92678671	42856076	30	500											
TMEM180	79847	broad.mit.edu	37	10	104233397	104233397	+	Silent	SNP	C	C	T			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr10:104233397C>T	ENST00000238936.4	+	8	1233	c.996C>T	c.(994-996)taC>taT	p.Y332Y	TMEM180_ENST00000366277.2_Silent_p.Y61Y	NM_024789.3	NP_079065.2	Q14CX5	TM180_HUMAN	transmembrane protein 180	332						integral to membrane				breast(3)|endometrium(2)|large_intestine(3)|lung(1)|ovary(3)|skin(1)	13		Colorectal(252;0.122)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		GGGGCGTCTACGCGGTGGTGC	0.637													31	17					0	0	1	0	0	T	104233397	C	T	104233397	2	4	12	1	0	0	0	0	0	0	0	1	16159	547	19	1		1	TMEM180	10	104233397	Silent	SNP	C	TCGA-CS-6186-01A-12D-2024-08	11554726	104233397	31301350	31	501											
TACC2	10579	broad.mit.edu	37	10	123844064	123844064	+	Silent	SNP	C	C	T			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr10:123844064C>T	ENST00000369005.1	+	4	2389	c.2049C>T	c.(2047-2049)ccC>ccT	p.P683P	TACC2_ENST00000334433.3_Silent_p.P683P|TACC2_ENST00000515273.1_Silent_p.P683P|TACC2_ENST00000453444.2_Silent_p.P683P|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000515603.1_Silent_p.P683P|TACC2_ENST00000513429.1_Intron	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	683						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				CCACTGTTCCCGAAGGAGCCA	0.582													4	2					0	0	1	0	0	T	123844064	C	T	123844064	2	4	12	1	0	0	0	0	0	0	0	1	15559	639	23	1		1	TACC2	10	123844064	Silent	SNP	C	TCGA-CS-6186-01A-12D-2024-08	19610667	123844064	11690683	32	502											
MUC5B	727897	broad.mit.edu	37	11	1271606	1271606	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr11:1271606C>T	ENST00000447027.1	+	31	13563	c.13505C>T	c.(13504-13506)tCc>tTc	p.S4502F	MUC5B_ENST00000529681.1_Missense_Mutation_p.S4499F			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4499	23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		ACTCCCTCCTCCAGTCCAGGG	0.642													58	86					0	0	1	0	0	T	1271606	C	T	1271606	3	4	12	1	0	0	0	0	1	0	0	0	10027	855	30	2	13627	2	MUC5B	11	1271606	Missense_Mutation	SNP	C	TCGA-CS-6186-01A-12D-2024-08		1271606	133734910	33	503											
INSC	387755	broad.mit.edu	37	11	15133995	15133995	+	Translation_Start_Site	SNP	G	G	A			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr11:15133995G>A	ENST00000379554.3	+	0	26					NM_001031853.3	NP_001027024.3	Q1MX18	INSC_HUMAN	inscuteable homolog (Drosophila)						cell differentiation|nervous system development	cytoplasm	binding			NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(3)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						ACTTGGAGTCGCTGCAGCCAA	0.622													12	12					0	0	1	0	0	A	15133995	G	A	15133995	1	1	12	1	0	0	0	0	0	0	0	0	7808	1102	38	1		1	INSC	11	15133995	Translation_Start_Site	SNP	G	TCGA-CS-6186-01A-12D-2024-08	13862389	15133995	119872521	34	504											
OR5F1	338674	broad.mit.edu	37	11	55761801	55761801	+	Missense_Mutation	SNP	T	T	A			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr11:55761801T>A	ENST00000278409.1	-	1	300	c.301A>T	c.(301-303)Atg>Ttg	p.M101L		NM_003697.1	NP_003688.1	O95221	OR5F1_HUMAN	olfactory receptor, family 5, subfamily F, member 1	101					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58	Esophageal squamous(21;0.00448)					AAGAAGTACATCTGTAGGAAG	0.463													29	53					0	0	1	0	0	A	55761801	T	A	55761801	3	1	12	1	0	0	0	0	1	0	0	0	11205	1435	50	4	646	4	OR5F1	11	55761801	Missense_Mutation	SNP	T	TCGA-CS-6186-01A-12D-2024-08	40627806	55761801	79244715	35	505											
PDE2A	5138	broad.mit.edu	37	11	72289381	72289381	+	Silent	SNP	C	C	T			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr11:72289381C>T	ENST00000334456.5	-	30	2756	c.2511G>A	c.(2509-2511)gaG>gaA	p.E837E	PDE2A_ENST00000544570.1_Silent_p.E830E|PDE2A_ENST00000418754.2_Silent_p.E722E|PDE2A_ENST00000376450.3_Silent_p.E581E|PDE2A_ENST00000444035.2_Silent_p.E828E|PDE2A_ENST00000540345.1_Silent_p.E828E	NM_002599.4	NP_002590.1	O00408	PDE2A_HUMAN	phosphodiesterase 2A, cGMP-stimulated	837	Catalytic (By similarity).				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity|metal ion binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	36			BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		Sildenafil(DB00203)|Sulindac(DB00605)	CCATGGCCTTCTCCTGCAGGC	0.582													26	37					0	0	1	0	0	T	72289381	C	T	72289381	2	4	12	1	0	0	0	0	0	0	0	1	11683	912	32	2		2	PDE2A	11	72289381	Silent	SNP	C	TCGA-CS-6186-01A-12D-2024-08	16527580	72289381	62717135	36	506											
OR2AT4	341152	broad.mit.edu	37	11	74800020	74800020	+	Missense_Mutation	SNP	T	T	A			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr11:74800020T>A	ENST00000305159.3	-	1	779	c.739A>T	c.(739-741)Agc>Tgc	p.S247C		NM_001005285.1	NP_001005285.1	A6NND4	O2AT4_HUMAN	olfactory receptor, family 2, subfamily AT, member 4	247					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(2)	12						AGGTGGGAGCTGCAGGTGGAG	0.567													11	15					0	0	1	0	0	A	74800020	T	A	74800020	3	1	12	1	0	0	0	0	1	0	0	0	11035	1580	55	5	226	5	OR2AT4	11	74800020	Missense_Mutation	SNP	T	TCGA-CS-6186-01A-12D-2024-08	2510639	74800020	60206496	37	507											
ACSM4	341392	broad.mit.edu	37	12	7477158	7477158	+	Silent	SNP	G	G	A			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr12:7477158G>A	ENST00000399422.4	+	11	1548	c.1500G>A	c.(1498-1500)tcG>tcA	p.S500S		NM_001080454.1	NP_001073923.1	P0C7M7	ACSM4_HUMAN	acyl-CoA synthetase medium-chain family member 4	500					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			endometrium(6)|kidney(1)|lung(14)	21						TTGTTGAATCGGCTGTTGTCA	0.428													15	29					0	0	1	0	0	A	7477158	G	A	7477158	2	1	12	1	0	0	0	0	0	0	0	1	186	1103	39	1		1	ACSM4	12	7477158	Silent	SNP	G	TCGA-CS-6186-01A-12D-2024-08		7477158	126374737	38	508											
GUCY2C	2984	broad.mit.edu	37	12	14809526	14809526	+	Missense_Mutation	SNP	G	G	A			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr12:14809526G>A	ENST00000261170.3	-	12	1526	c.1390C>T	c.(1390-1392)Cgt>Tgt	p.R464C		NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)	464			R -> L (in dbSNP:rs55684775).		intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51						TTTTTCTGACGAAGTTCATAA	0.373													25	38					0	0	1	0	0	A	14809526	G	A	14809526	3	1	12	1	0	0	0	0	1	0	0	0	6937	1058	37	1	1895	1	GUCY2C	12	14809526	Missense_Mutation	SNP	G	TCGA-CS-6186-01A-12D-2024-08	7332368	14809526	119042369	39	509											
PKP2	5318	broad.mit.edu	37	12	33031888	33031888	+	Missense_Mutation	SNP	C	C	T	rs149542398	byFrequency	TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr12:33031888C>T	ENST00000340811.4	-	2	410	c.302G>A	c.(301-303)cGt>cAt	p.R101H	PKP2_ENST00000070846.6_Missense_Mutation_p.R101H	NM_001005242.2	NP_001005242.2	Q99959	PKP2_HUMAN	plakophilin 2	101					cell-cell adhesion	desmosome|integral to membrane|nucleus	binding			NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					AACAGGGGAACGGCCTCCAAC	0.378													4	64					0	0	1	0	0	T	33031888	C	T	33031888	3	4	12	1	0	0	0	0	1	0	0	0	12033	536	19	1	2395	1	PKP2	12	33031888	Missense_Mutation	SNP	C	TCGA-CS-6186-01A-12D-2024-08	18222362	33031888	100820007	40	510											
ALG5	29880	broad.mit.edu	37	13	37569684	37569684	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr13:37569684C>T	ENST00000239891.3	-	2	182	c.116G>A	c.(115-117)cGa>cAa	p.R39Q	ALG5_ENST00000443765.1_Missense_Mutation_p.R39Q|ALG5_ENST00000413537.2_Missense_Mutation_p.R39Q|ALG5_ENST00000496689.1_5'UTR	NM_013338.4	NP_037470.1	Q9Y673	ALG5_HUMAN	ALG5, dolichyl-phosphate beta-glucosyltransferase	39					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate beta-glucosyltransferase activity|oligosaccharyl transferase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	11		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)		all cancers(112;5.79e-07)|Epithelial(112;1.81e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00785)|BRCA - Breast invasive adenocarcinoma(63;0.0127)|GBM - Glioblastoma multiforme(144;0.0472)		TTCTTCATGTCGATGGAGTGC	0.383													15	38					0	0	1	0	0	T	37569684	C	T	37569684	3	4	12	1	0	0	0	0	1	0	0	0	517	884	31	1	894	1	ALG5	13	37569684	Missense_Mutation	SNP	C	TCGA-CS-6186-01A-12D-2024-08		37569684	77600194	41	511											
PAK6	56924	broad.mit.edu	37	15	40558146	40558146	+	Missense_Mutation	SNP	G	G	A			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr15:40558146G>A	ENST00000455577.2	+	5	1220	c.308G>A	c.(307-309)cGc>cAc	p.R103H	PAK6_ENST00000453867.1_Missense_Mutation_p.R103H|PAK6_ENST00000560346.1_Missense_Mutation_p.R103H|PAK6_ENST00000441369.1_Missense_Mutation_p.R103H|PAK6_ENST00000542403.2_Missense_Mutation_p.R103H|PAK6_ENST00000260404.4_Missense_Mutation_p.R103H|RP11-133K1.2_ENST00000558658.1_3'UTR	NM_001276718.1	NP_001263647.1	Q9NQU5	PAK6_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 6	103	Linker.		R -> C (in dbSNP:rs36081263).				ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|cervix(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(2)	24		all_cancers(109;1.13e-18)|all_epithelial(112;1.62e-15)|Lung NSC(122;5.67e-11)|all_lung(180;1.41e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0823)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.51e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0544)		CTGCGTGGCCGCAGCCCCACC	0.667													3	10					0	0	1	0	0	A	40558146	G	A	40558146	3	1	12	1	0	0	0	0	1	0	0	0	11451	1087	38	1	314	1	PAK6	15	40558146	Missense_Mutation	SNP	G	TCGA-CS-6186-01A-12D-2024-08		40558146	61973246	42	512											
ATP8B4	79895	broad.mit.edu	37	15	50223421	50223421	+	Missense_Mutation	SNP	G	G	A			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr15:50223421G>A	ENST00000284509.6	-	16	1678	c.1537C>T	c.(1537-1539)Cgg>Tgg	p.R513W	ATP8B4_ENST00000559829.1_Missense_Mutation_p.R513W	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	513					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		TCTGGGGTCCGGGATTTAAAA	0.398													17	25					0	0	1	0	0	A	50223421	G	A	50223421	3	1	12	1	0	0	0	0	1	0	0	0	1195	1115	39	1	2093	1	ATP8B4	15	50223421	Missense_Mutation	SNP	G	TCGA-CS-6186-01A-12D-2024-08	9665275	50223421	52307971	43	513											
MYO5A	4644	broad.mit.edu	37	15	52622646	52622646	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr15:52622646G>A	ENST00000399231.3	-	34	4627	c.4384C>T	c.(4384-4386)Cga>Tga	p.R1462*	MYO5A_ENST00000553916.1_Nonsense_Mutation_p.R1460*|MYO5A_ENST00000399233.2_Nonsense_Mutation_p.R1459*|MYO5A_ENST00000358212.6_Nonsense_Mutation_p.R1487*|MYO5A_ENST00000356338.6_Nonsense_Mutation_p.R1435*	NM_000259.3	NP_000250	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)	1462					actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity	p.R1462R(1)		breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		TTGACTGGTCGGATGGGTTCA	0.413													56	71					0	0	1	0	0	A	52622646	G	A	52622646	4	1	12	1	0	0	0	0	0	1	0	0	10126	1124	39	1	1215	1	MYO5A	15	52622646	Nonsense_Mutation	SNP	G	TCGA-CS-6186-01A-12D-2024-08	2399225	52622646	49908746	44	514											
OR4F6	390648	broad.mit.edu	37	15	102346763	102346763	+	Missense_Mutation	SNP	G	G	A			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr15:102346763G>A	ENST00000328882.4	+	1	862	c.841G>A	c.(841-843)Gtt>Att	p.V281I		NM_001005326.1	NP_001005326.1	Q8NGB9	OR4F6_HUMAN	olfactory receptor, family 4, subfamily F, member 6	281					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(1)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)			TATCACTCCCGTTTTGAATCC	0.343													23	28					0	0	1	0	0	A	102346763	G	A	102346763	3	1	12	1	0	0	0	0	1	0	0	0	11114	1145	40	1	843	1	OR4F6	15	102346763	Missense_Mutation	SNP	G	TCGA-CS-6186-01A-12D-2024-08	49724117	102346763	184629	45	515											
SPNS1	83985	broad.mit.edu	37	16	28995597	28995597	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr16:28995597C>T	ENST00000311008.11	+	12	1941	c.1564C>T	c.(1564-1566)Ccc>Tcc	p.P522S	SPNS1_ENST00000352260.7_Missense_Mutation_p.P448S|SPNS1_ENST00000323081.8_Missense_Mutation_p.P449S|RP11-264B17.3_ENST00000569969.1_RNA|SPNS1_ENST00000565975.1_Missense_Mutation_p.P567S|SPNS1_ENST00000334536.8_Missense_Mutation_p.P470S	NM_032038.2	NP_114427.1	Q9H2V7	SPNS1_HUMAN	spinster homolog 1 (Drosophila)	522					lipid transport|transmembrane transport	integral to membrane|mitochondrial inner membrane	protein binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)|urinary_tract(1)	21						CACCCGCGTGCCCGTGGCCAG	0.697													9	18					0	0	1	0	0	T	28995597	C	T	28995597	3	4	12	1	0	0	0	0	1	0	0	0	15130	739	26	2	1610	2	SPNS1	16	28995597	Missense_Mutation	SNP	C	TCGA-CS-6186-01A-12D-2024-08		28995597	61359156	46	516											
CHST4	10164	broad.mit.edu	37	16	71570880	71570880	+	Silent	SNP	C	C	T	rs139260372		TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr16:71570880C>T	ENST00000338482.5	+	3	643	c.300C>T	c.(298-300)gcC>gcT	p.A100A	ZNF19_ENST00000568446.1_Intron|CHST4_ENST00000572450.1_Silent_p.A100A|CHST4_ENST00000539698.3_Silent_p.A100A			Q8NCG5	CHST4_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 4	100					cell-cell signaling|immune response|inflammatory response|N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane|trans-Golgi network	N-acetylglucosamine 6-O-sulfotransferase activity			cervix(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	21						TGATACGGGCCGTCTTCTTGT	0.582													22	35					0	0	1	0	0	T	71570880	C	T	71570880	2	4	12	1	0	0	0	0	0	0	0	1	3428	639	23	1		1	CHST4	16	71570880	Silent	SNP	C	TCGA-CS-6186-01A-12D-2024-08	42575283	71570880	18783873	47	517											
ACLY	47	broad.mit.edu	37	17	40040509	40040509	+	Missense_Mutation	SNP	G	G	C			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr17:40040509G>C	ENST00000352035.2	-	19	2221	c.2091C>G	c.(2089-2091)ttC>ttG	p.F697L	ACLY_ENST00000393896.2_Missense_Mutation_p.F687L|ACLY_ENST00000590151.1_Missense_Mutation_p.F697L|ACLY_ENST00000537919.1_Missense_Mutation_p.F426L|ACLY_ENST00000353196.1_Missense_Mutation_p.F687L	NM_001096.2	NP_001087.2	P53396	ACLY_HUMAN	ATP citrate lyase	697					ATP catabolic process|cellular carbohydrate metabolic process|citrate metabolic process|coenzyme A metabolic process|energy reserve metabolic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	citrate lyase complex|cytosol|nucleus	ATP binding|ATP citrate synthase activity|citrate (pro-3S)-lyase activity|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity		NTN1/ACLY(2)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	28		Breast(137;0.000143)				CATGATCCATGAATGTGGAGC	0.438													20	27					0	0	1	0	0	C	40040509	G	C	40040509	3	2	12	1	0	0	0	0	1	0	0	0	143	1281	45	5	1258	5	ACLY	17	40040509	Missense_Mutation	SNP	G	TCGA-CS-6186-01A-12D-2024-08		40040509	41154701	48	518											
HOXB5	3215	broad.mit.edu	37	17	46670842	46670842	+	Missense_Mutation	SNP	G	G	A			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr17:46670842G>A	ENST00000239151.5	-	1	481	c.203C>T	c.(202-204)gCg>gTg	p.A68V	HOXB-AS3_ENST00000429755.4_RNA|HOXB-AS3_ENST00000487849.3_RNA|HOXB-AS3_ENST00000474040.1_RNA|HOXB-AS3_ENST00000465846.2_RNA|HOXB3_ENST00000552000.2_Intron|HOXB-AS3_ENST00000480872.1_RNA|HOXB-AS3_ENST00000492897.3_RNA|HOXB-AS3_ENST00000467155.2_RNA|HOXB-AS3_ENST00000476204.1_RNA	NM_002147.3	NP_002138.1	P09067	HXB5_HUMAN	homeobox B5	68						nucleus	sequence-specific DNA binding			large_intestine(1)|lung(2)	3						CTCGCCCACCGCCCCAAAGTG	0.687													4	14					0	0	1	0	0	A	46670842	G	A	46670842	3	1	12	1	0	0	0	0	1	0	0	0	7345	1087	38	1	614	1	HOXB5	17	46670842	Missense_Mutation	SNP	G	TCGA-CS-6186-01A-12D-2024-08	6630333	46670842	34524368	49	519											
COL1A1	1277	broad.mit.edu	37	17	48270361	48270361	+	Silent	SNP	G	G	A	rs72651616		TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr17:48270361G>A	ENST00000225964.5	-	26	1933	c.1815C>T	c.(1813-1815)ggC>ggT	p.G605G		NM_000088.3	NP_000079	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	605	Triple-helical region.		G -> D (in OI2A).		axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding	p.G605G(1)	COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)|Palifermin(DB00039)	TTACGACAGCGCCAGGGGGTC	0.627			T	"PDGFB, USP6"	"dermatofibrosarcoma protuberans, aneurysmal bone cyst "		Osteogenesis imperfecta						5	15					0	0	1	0	0	A	48270361	G	A	48270361	2	1	12	1	0	0	0	0	0	0	0	1	3700	1074	38	1		1	COL1A1	17	48270361	Silent	SNP	G	TCGA-CS-6186-01A-12D-2024-08	1599519	48270361	32924849	50	520											
EPN3	55040	broad.mit.edu	37	17	48616618	48616618	+	Missense_Mutation	SNP	G	G	A			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr17:48616618G>A	ENST00000268933.3	+	5	1412	c.833G>A	c.(832-834)cGg>cAg	p.R278Q	EPN3_ENST00000541226.1_Missense_Mutation_p.R195Q|EPN3_ENST00000537145.1_Missense_Mutation_p.R306Q	NM_017957.2	NP_060427.2	Q9H201	EPN3_HUMAN	epsin 3	278						clathrin-coated vesicle|nucleus|perinuclear region of cytoplasm	lipid binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;2.88e-09)			CACCATCAGCGGGACAGAGAG	0.597													18	30					0	0	1	0	0	A	48616618	G	A	48616618	3	1	12	1	0	0	0	0	1	0	0	0	5215	1116	39	1	847	1	EPN3	17	48616618	Missense_Mutation	SNP	G	TCGA-CS-6186-01A-12D-2024-08	346257	48616618	32578592	51	521											
MYH14	79784	broad.mit.edu	37	19	50750373	50750373	+	Silent	SNP	G	G	A			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr19:50750373G>A	ENST00000440075.2	+	12	1370	c.1323G>A	c.(1321-1323)aaG>aaA	p.K441K	MYH14_ENST00000596571.1_Silent_p.K433K|MYH14_ENST00000262269.8_Silent_p.K441K|MYH14_ENST00000376970.2_Silent_p.K433K|MYH14_ENST00000601313.1_Silent_p.K441K|MYH14_ENST00000598205.1_Silent_p.K441K|MYH14_ENST00000425460.1_Silent_p.K441K			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	433	Myosin head-like.				axon guidance|regulation of cell shape	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		CCCAGACTAAGGAACAGGTAG	0.597													8	19					0	0	1	0	0	A	50750373	G	A	50750373	2	1	12	1	0	0	0	0	0	0	0	1	10081	991	35	2		2	MYH14	19	50750373	Silent	SNP	G	TCGA-CS-6186-01A-12D-2024-08		50750373	8378610	52	522											
NLRP9	338321	broad.mit.edu	37	19	56244617	56244617	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr19:56244617C>T	ENST00000332836.2	-	2	607	c.580G>A	c.(580-582)Gca>Aca	p.A194T		NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	194	NACHT.					cytoplasm	ATP binding			NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		CTGGTCTCTGCGATACCGTTC	0.453													4	30					0	0	1	0	0	T	56244617	C	T	56244617	3	4	12	1	0	0	0	0	1	0	0	0	10531	768	27	1	2427	1	NLRP9	19	56244617	Missense_Mutation	SNP	C	TCGA-CS-6186-01A-12D-2024-08	5494244	56244617	2884366	53	523											
SLC23A2	9962	broad.mit.edu	37	20	4850643	4850643	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr20:4850643C>T	ENST00000379333.1	-	12	1551	c.1159G>A	c.(1159-1161)Gtg>Atg	p.V387M	SLC23A2_ENST00000338244.1_Missense_Mutation_p.V387M|SLC23A2_ENST00000468355.1_5'UTR|SLC23A2_ENST00000424750.2_Missense_Mutation_p.V273M	NM_203327.1	NP_976072.1	Q9UGH3	S23A2_HUMAN	solute carrier family 23 (ascorbic acid transporter), member 2	387					L-ascorbic acid metabolic process|molecular hydrogen transport|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transepithelial L-ascorbic acid transport	apical plasma membrane|integral to plasma membrane|membrane fraction	nucleobase transmembrane transporter activity|sodium-dependent L-ascorbate transmembrane transporter activity|sodium-dependent multivitamin transmembrane transporter activity			endometrium(1)|kidney(3)|large_intestine(9)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						CTGGCGACCACGGCACTGAGC	0.602													27	46					0	0	1	0	0	T	4850643	C	T	4850643	3	4	12	1	0	0	0	0	1	0	0	0	14518	536	19	1	817	1	SLC23A2	20	4850643	Missense_Mutation	SNP	C	TCGA-CS-6186-01A-12D-2024-08		4850643	58174877	54	524											
SEC23B	10483	broad.mit.edu	37	20	18516372	18516372	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr20:18516372G>T	ENST00000336714.3	+	12	1822	c.1390G>T	c.(1390-1392)Gaa>Taa	p.E464*	SEC23B_ENST00000377475.3_Nonsense_Mutation_p.E464*|SEC23B_ENST00000377465.1_Nonsense_Mutation_p.E464*|SEC23B_ENST00000262544.2_Nonsense_Mutation_p.E464*	NM_006363.4|NM_032985.4|NM_032986.3	NP_006354.2|NP_116780.1|NP_116781.1	Q15437	SC23B_HUMAN	Sec23 homolog B (S. cerevisiae)	464					ER to Golgi vesicle-mediated transport|intracellular protein transport	COPII vesicle coat|endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	32						CATCTATTTTGAAGTTGTCAA	0.433													3	26					1	1	1	1	0	T	18516372	G	T	18516372	4	4	12	1	0	0	0	0	0	1	0	0	14046	1291	45	5	1432	5	SEC23B	20	18516372	Nonsense_Mutation	SNP	G	TCGA-CS-6186-01A-12D-2024-08	13665729	18516372	44509148	55	525											
VSX1	30813	broad.mit.edu	37	20	25057044	25057044	+	Silent	SNP	A	A	C			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr20:25057044A>C	ENST00000376709.4	-	5	1214	c.951T>G	c.(949-951)ccT>ccG	p.P317P	VSX1_ENST00000429762.3_Intron|VSX1_ENST00000451258.1_Intron|VSX1_ENST00000444511.2_Intron|VSX1_ENST00000424574.1_Intron	NM_014588.5	NP_055403.2	Q9NZR4	VSX1_HUMAN	visual system homeobox 1	317					response to stimulus|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(3)|lung(2)	6						AGCCATTCTCAGGGCTCACTT	0.542													31	58					0	0	1	0	0	C	25057044	A	C	25057044	2	2	12	1	0	0	0	0	0	0	0	1	17291	175	7	5		5	VSX1	20	25057044	Silent	SNP	A	TCGA-CS-6186-01A-12D-2024-08	6540672	25057044	37968476	56	526											
TUBA8	51807	broad.mit.edu	37	22	18604328	18604328	+	Missense_Mutation	SNP	G	G	A			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr22:18604328G>A	ENST00000330423.3	+	2	159	c.86G>A	c.(85-87)gGc>gAc	p.G29D	TUBA8_ENST00000316027.6_5'UTR	NM_018943.2	NP_061816.1	Q9NY65	TBA8_HUMAN	tubulin, alpha 8	29					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	14						CTGGAACACGGCATCCAGGCA	0.552													3	40					0	0	1	0	0	A	18604328	G	A	18604328	3	1	12	1	0	0	0	0	1	0	0	0	16812	1203	42	2	92	2	TUBA8	22	18604328	Missense_Mutation	SNP	G	TCGA-CS-6186-01A-12D-2024-08		18604328	32700238	57	527											
FAM47B	170062	broad.mit.edu	37	X	34961315	34961315	+	Missense_Mutation	SNP	G	G	T			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chrX:34961315G>T	ENST00000329357.5	+	1	403	c.367G>T	c.(367-369)Gcc>Tcc	p.A123S		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	123										breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						GGAAGTGGAAGCCCAGCTGAT	0.537													28	18					6.04164e-23	6.35147e-23	1	1	0	T	34961315	G	T	34961315	3	4	12	1	0	0	0	0	1	0	0	0	5606	971	34	4	369	4	FAM47B	23	34961315	Missense_Mutation	SNP	G	TCGA-CS-6186-01A-12D-2024-08		34961315	120309245	58	528											
MAGEB16	139604	broad.mit.edu	37	X	35820491	35820491	+	Missense_Mutation	SNP	A	A	T			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chrX:35820491A>T	ENST00000399989.1	+	2	457	c.178A>T	c.(178-180)Agt>Tgt	p.S60C	MAGEB16_ENST00000399987.1_Missense_Mutation_p.S60C|MAGEB16_ENST00000399985.1_Missense_Mutation_p.S60C|MAGEB16_ENST00000399988.1_Missense_Mutation_p.S60C|MAGEB16_ENST00000399992.1_Missense_Mutation_p.S92C	NM_001099921.1	NP_001093391.1	A2A368	MAGBG_HUMAN	melanoma antigen family B, 16	60										breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						TAAGGCAGAGAGTCCTCTTGA	0.532													9	1					0	0	1	0	0	T	35820491	A	T	35820491	3	4	12	1	0	0	0	0	1	0	0	0	9224	304	11	5	180	5	MAGEB16	23	35820491	Missense_Mutation	SNP	A	TCGA-CS-6186-01A-12D-2024-08	859176	35820491	119450069	59	529											
DDX26B	203522	broad.mit.edu	37	X	134706886	134706886	+	Silent	SNP	G	G	T			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chrX:134706886G>T	ENST00000370752.4	+	11	1768	c.1434G>T	c.(1432-1434)ggG>ggT	p.G478G	DDX26B_ENST00000481908.1_3'UTR	NM_182540.4	NP_872346.3	Q5JSJ4	DX26B_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26B	478										large_intestine(1)|lung(8)	9	Acute lymphoblastic leukemia(192;6.56e-05)					AAATCACAGGGGAAACTGCAC	0.353													28	7					3.73148e-12	3.87318e-12	1	1	0	T	134706886	G	T	134706886	2	4	12	1	0	0	0	0	0	0	0	1	4376	1219	43	5		5	DDX26B	23	134706886	Silent	SNP	G	TCGA-CS-6186-01A-12D-2024-08	98886395	134706886	20563674	60	530											
SPANXN2	494119	broad.mit.edu	37	X	142795437	142795437	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chrX:142795437C>T	ENST00000370498.1	-	2	994	c.241G>A	c.(241-243)Gtc>Atc	p.V81I		NM_001009615.1	NP_001009615.1	Q5MJ10	SPXN2_HUMAN	SPANX family, member N2	81								p.R90R(1)|p.V81F(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					TCCTCTTGGACGGGATTGATG	0.453													132	16					0	0	1	0	0	T	142795437	C	T	142795437	3	4	12	1	0	0	0	0	1	0	0	0	15047	536	19	1	305	1	SPANXN2	23	142795437	Missense_Mutation	SNP	C	TCGA-CS-6186-01A-12D-2024-08	8088551	142795437	12475123	61	531											
CDK11B	984	broad.mit.edu	37	1	1588852	1588852	+	Missense_Mutation	SNP	C	C	G			TCGA-CS-6188-01A-11D-1893-08	TCGA-CS-6188-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adacd0a6-53f0-46c1-9f59-e30cb1b56164	1026b480-665c-4646-8fec-982cc07dca1e	g.chr1:1588852C>G	ENST00000407249.3	-	1	83	c.84G>C	c.(82-84)gaG>gaC	p.E28D	CDK11B_ENST00000317673.7_Missense_Mutation_p.E28D|CDK11B_ENST00000340677.5_Missense_Mutation_p.E28D			P21127	CD11B_HUMAN	cyclin-dependent kinase 11B	28					apoptosis|cell proliferation|mitosis|regulation of cell growth|regulation of mRNA processing|regulation of transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity|protein binding			endometrium(2)|large_intestine(3)|lung(4)|skin(1)|stomach(2)	12						TCTCTGCTTTCTCCTCTTGTT	0.328													9	13					0	0	0.058154	0	0	G	1588852	C	G	1588852	3	3	13	1	0	0	0	0	1	0	0	0	3149	928	32	4		4	CDK11B	1	1588852	Missense_Mutation	SNP	C	TCGA-CS-6188-01A-11D-1893-08		1588852	247661769	1	532											
NOTCH2	4853	broad.mit.edu	37	1	120502127	120502127	+	Splice_Site	SNP	T	T	C			TCGA-CS-6188-01A-11D-1893-08	TCGA-CS-6188-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adacd0a6-53f0-46c1-9f59-e30cb1b56164	1026b480-665c-4646-8fec-982cc07dca1e	g.chr1:120502127T>C	ENST00000256646.2	-	12	2135		c.e12-2			NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2						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)		AATTAACCCCTGGAAGAGAAA	0.403			"N, F, Mis"		"marginal zone lymphoma, DLBCL"				Alagille Syndrome				14	40					0	0	0.105934	0	0	C	120502127	T	C	120502127	5	2	13	1	0	0	0	0	0	0	1	0	10595	1594	55	3	5593	3	NOTCH2	1	120502127	Splice_Site	SNP	T	TCGA-CS-6188-01A-11D-1893-08	118913275	120502127	128748494	2	533											
NUP210L	91181	broad.mit.edu	37	1	154062057	154062057	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-6188-01A-11D-1893-08	TCGA-CS-6188-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adacd0a6-53f0-46c1-9f59-e30cb1b56164	1026b480-665c-4646-8fec-982cc07dca1e	g.chr1:154062057C>T	ENST00000368559.3	-	16	2272	c.2201G>A	c.(2200-2202)cGa>cAa	p.R734Q	NUP210L_ENST00000271854.3_Missense_Mutation_p.R734Q	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	734						integral to membrane				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			ATTTCCAATTCGGAATGTGAG	0.423													44	74					0	0	0.11126	0	0	T	154062057	C	T	154062057	3	4	13	1	0	0	0	0	1	0	0	0	10809	884	31	1	3565	1	NUP210L	1	154062057	Missense_Mutation	SNP	C	TCGA-CS-6188-01A-11D-1893-08	33559930	154062057	95188564	3	534											
OR2T8	343172	broad.mit.edu	37	1	248084419	248084419	+	Silent	SNP	T	T	C			TCGA-CS-6188-01A-11D-1893-08	TCGA-CS-6188-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adacd0a6-53f0-46c1-9f59-e30cb1b56164	1026b480-665c-4646-8fec-982cc07dca1e	g.chr1:248084419T>C	ENST00000319968.4	+	1	100	c.100T>C	c.(100-102)Ttg>Ctg	p.L34L		NM_001005522.1	NP_001005522.1	A6NH00	OR2T8_HUMAN	olfactory receptor, family 2, subfamily T, member 8	34					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(20)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0211)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GAGTATCGTTTTGACCTCCCT	0.488													27	48					0	0	0.054565	0	0	C	248084419	T	C	248084419	2	2	13	1	0	0	0	0	0	0	0	1	11078	1838	64	3		3	OR2T8	1	248084419	Silent	SNP	T	TCGA-CS-6188-01A-11D-1893-08	94022362	248084419	1166202	4	535											
OR2L8	391190	broad.mit.edu	37	1	248112252	248112252	+	Silent	SNP	T	T	C			TCGA-CS-6188-01A-11D-1893-08	TCGA-CS-6188-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adacd0a6-53f0-46c1-9f59-e30cb1b56164	1026b480-665c-4646-8fec-982cc07dca1e	g.chr1:248112252T>C	ENST00000357191.3	+	1	93	c.93T>C	c.(91-93)gtT>gtC	p.V31V	OR2L13_ENST00000366478.2_Intron	NM_001001963.1	NP_001001963.1	Q8NGY9	OR2L8_HUMAN	olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene)	31					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			TTCTCATTGTTTTCATTTTCC	0.393													77	161					0	0	0.139131	0	0	C	248112252	T	C	248112252	2	2	13	1	0	0	0	0	0	0	0	1	11057	1828	64	3		3	OR2L8	1	248112252	Silent	SNP	T	TCGA-CS-6188-01A-11D-1893-08	27833	248112252	1138369	5	536											
HJURP	55355	broad.mit.edu	37	2	234750376	234750376	+	Missense_Mutation	SNP	C	C	G			TCGA-CS-6188-01A-11D-1893-08	TCGA-CS-6188-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adacd0a6-53f0-46c1-9f59-e30cb1b56164	1026b480-665c-4646-8fec-982cc07dca1e	g.chr2:234750376C>G	ENST00000411486.2	-	8	1115	c.1050G>C	c.(1048-1050)aaG>aaC	p.K350N	HJURP_ENST00000441687.1_Missense_Mutation_p.K265N|HJURP_ENST00000432087.1_Missense_Mutation_p.K296N	NM_018410.3	NP_060880.3	Q8NCD3	HJURP_HUMAN	Holliday junction recognition protein	350					cell cycle|CenH3-containing nucleosome assembly at centromere|centromeric core chromatin assembly|chromosome segregation|regulation of DNA binding|regulation of protein complex assembly	condensed chromosome kinetochore|cytoplasm|nucleolus|nucleoplasm	DNA binding|histone binding			NS(2)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Breast(86;0.00204)|all_lung(227;0.00433)|Renal(207;0.00685)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0719)|Lung SC(224;0.128)		Epithelial(121;2.01e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000186)|Lung(119;0.00521)|LUSC - Lung squamous cell carcinoma(224;0.00829)		TTAAACCTGTCTTACGGCAAG	0.443													21	37					0	0	0.062417	0	0	G	234750376	C	G	234750376	3	3	13	1	0	0	0	0	1	0	0	0	7230	912	32	4	1204	4	HJURP	2	234750376	Missense_Mutation	SNP	C	TCGA-CS-6188-01A-11D-1893-08		234750376	8448997	6	537											
HPS3	84343	broad.mit.edu	37	3	148884979	148884979	+	Silent	SNP	G	G	A			TCGA-CS-6188-01A-11D-1893-08	TCGA-CS-6188-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adacd0a6-53f0-46c1-9f59-e30cb1b56164	1026b480-665c-4646-8fec-982cc07dca1e	g.chr3:148884979G>A	ENST00000296051.2	+	15	2888	c.2748G>A	c.(2746-2748)ccG>ccA	p.P916P	HPS3_ENST00000460120.1_Silent_p.P751P	NM_032383.3	NP_115759.2	Q969F9	HPS3_HUMAN	Hermansky-Pudlak syndrome 3	916						cytoplasm				breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	34			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			AGAGATGCCCGGAGGCAGTCA	0.423									Hermansky-Pudlak syndrome				3	57					0	0	0.115264	0	0	A	148884979	G	A	148884979	2	1	13	1	0	0	0	0	0	0	0	1	7381	1103	39	1		1	HPS3	3	148884979	Silent	SNP	G	TCGA-CS-6188-01A-11D-1893-08		148884979	49137451	7	538											
TRA2B	6434	broad.mit.edu	37	3	185639892	185639892	+	Missense_Mutation	SNP	A	A	C			TCGA-CS-6188-01A-11D-1893-08	TCGA-CS-6188-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adacd0a6-53f0-46c1-9f59-e30cb1b56164	1026b480-665c-4646-8fec-982cc07dca1e	g.chr3:185639892A>C	ENST00000453386.2	-	5	820	c.545T>G	c.(544-546)aTg>aGg	p.M182R	TRA2B_ENST00000382191.4_Missense_Mutation_p.M82R	NM_004593.2	NP_004584.1	P62995	TRA2B_HUMAN	transformer 2 beta homolog (Drosophila)	182	RRM.				nuclear mRNA splicing, via spliceosome	nucleus	nucleotide binding|protein binding|RNA binding			breast(2)|kidney(1)|large_intestine(6)|lung(4)|ovary(3)|prostate(1)|urinary_tract(1)	18						ATCAAGCTCCATTCCATTGGC	0.408													12	46					0	0	0.09319	0	0	C	185639892	A	C	185639892	3	2	13	1	0	0	0	0	1	0	0	0	16495	217	8	4	341	4	TRA2B	3	185639892	Missense_Mutation	SNP	A	TCGA-CS-6188-01A-11D-1893-08	36754913	185639892	12382538	8	539											
NCAPG	64151	broad.mit.edu	37	4	17843981	17843981	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-6188-01A-11D-1893-08	TCGA-CS-6188-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adacd0a6-53f0-46c1-9f59-e30cb1b56164	1026b480-665c-4646-8fec-982cc07dca1e	g.chr4:17843981C>T	ENST00000251496.2	+	20	3079	c.2903C>T	c.(2902-2904)aCt>aTt	p.T968I	LCORL_ENST00000326877.4_3'UTR	NM_022346.4	NP_071741.2	Q9BPX3	CND3_HUMAN	non-SMC condensin I complex, subunit G	968					cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	protein binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	27				STAD - Stomach adenocarcinoma(129;0.18)		AGGTGTCAGACTGCTGAAGCC	0.353													17	27					0	0	0.038395	0	0	T	17843981	C	T	17843981	3	4	13	1	0	0	0	0	1	0	0	0	10254	565	20	2	2981	2	NCAPG	4	17843981	Missense_Mutation	SNP	C	TCGA-CS-6188-01A-11D-1893-08		17843981	173310295	9	540											
ADAMTS12	81792	broad.mit.edu	37	5	33648939	33648939	+	Silent	SNP	G	G	A			TCGA-CS-6188-01A-11D-1893-08	TCGA-CS-6188-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adacd0a6-53f0-46c1-9f59-e30cb1b56164	1026b480-665c-4646-8fec-982cc07dca1e	g.chr5:33648939G>A	ENST00000504830.1	-	9	1802	c.1467C>T	c.(1465-1467)tgC>tgT	p.C489C	ADAMTS12_ENST00000352040.3_Silent_p.C489C|ADAMTS12_ENST00000504582.1_5'UTR	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	489	Disintegrin.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						CTACTTCCTGGCAGAAGGTAG	0.473										HNSCC(64;0.19)			29	110					0	0	0.108266	0	0	A	33648939	G	A	33648939	2	1	13	1	0	0	0	0	0	0	0	1	256	1195	42	2		2	ADAMTS12	5	33648939	Silent	SNP	G	TCGA-CS-6188-01A-11D-1893-08		33648939	147266321	10	541											
PIK3R1	5295	broad.mit.edu	37	5	67589632	67589634	+	In_Frame_Del	DEL	ATT	ATT	-			TCGA-CS-6188-01A-11D-1893-08	TCGA-CS-6188-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adacd0a6-53f0-46c1-9f59-e30cb1b56164	1026b480-665c-4646-8fec-982cc07dca1e	g.chr5:67589632_67589634delATT	ENST00000521381.1	+	11	2011_2013	c.1395_1397delATT	c.(1393-1398)agatta>aga	p.L466del	PIK3R1_ENST00000274335.5_In_Frame_Del_p.L466del|PIK3R1_ENST00000396611.1_In_Frame_Del_p.L466del|PIK3R1_ENST00000523872.1_In_Frame_Del_p.L103del|PIK3R1_ENST00000320694.8_In_Frame_Del_p.L166del|PIK3R1_ENST00000336483.5_In_Frame_Del_p.L196del|PIK3R1_ENST00000521657.1_In_Frame_Del_p.L466del	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	466					epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.Y463_L466del(1)|p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	AATATGATAGATTATATGAAGAA	0.291			"Mis, F, O"		"gliobastoma, ovarian, colorectal"					TCGA GBM(4;<1E-08)			14	51	---	---	---	---						-	67589634	ATT	-	67589632	7	5	13	1	0	1	0	1	0	0	0	0	11966	330	12	0	1563	0	PIK3R1	5	67589632	In_Frame_Del	DEL	ATT	TCGA-CS-6188-01A-11D-1893-08	33940693	67589632	113325628	11	542											
SHROOM1	134549	broad.mit.edu	37	5	132159379	132159379	+	Missense_Mutation	SNP	G	G	A			TCGA-CS-6188-01A-11D-1893-08	TCGA-CS-6188-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adacd0a6-53f0-46c1-9f59-e30cb1b56164	1026b480-665c-4646-8fec-982cc07dca1e	g.chr5:132159379G>A	ENST00000378679.3	-	8	2693	c.1889C>T	c.(1888-1890)cCt>cTt	p.P630L	SHROOM1_ENST00000319854.3_Missense_Mutation_p.P630L|SHROOM1_ENST00000488072.1_5'UTR|SHROOM1_ENST00000378676.1_Missense_Mutation_p.P561L	NM_001172700.1	NP_001166171.1	Q2M3G4	SHRM1_HUMAN	shroom family member 1	630	ASD2.				actin filament bundle assembly|cell morphogenesis	cytoplasm|microtubule	actin filament binding			endometrium(1)|kidney(4)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GTCAAGCACAGGGTGGGTGGC	0.612													40	96					0	0	0.080422	0	0	A	132159379	G	A	132159379	3	1	13	1	0	0	0	0	1	0	0	0	14348	1000	35	2	681	2	SHROOM1	5	132159379	Missense_Mutation	SNP	G	TCGA-CS-6188-01A-11D-1893-08	64569747	132159379	48755881	12	543											
PCDHA4	56144	broad.mit.edu	37	5	140188796	140188796	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-6188-01A-11D-1893-08	TCGA-CS-6188-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adacd0a6-53f0-46c1-9f59-e30cb1b56164	1026b480-665c-4646-8fec-982cc07dca1e	g.chr5:140188796C>T	ENST00000530339.1	+	1	2024	c.2024C>T	c.(2023-2025)gCg>gTg	p.A675V	PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000356878.4_Missense_Mutation_p.A675V|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Missense_Mutation_p.A675V|PCDHA1_ENST00000504120.2_Intron	NM_018907.2	NP_061730.1														breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGTGGACAGGCGCCAAAGGCC	0.657													16	77					0	0	0.0333	0	0	T	140188796	C	T	140188796	3	4	13	1	0	0	0	0	1	0	0	0	11573	768	27	1	2026	1	PCDHA4	5	140188796	Missense_Mutation	SNP	C	TCGA-CS-6188-01A-11D-1893-08	8029417	140188796	40726464	13	544											
SLC36A2	153201	broad.mit.edu	37	5	150704990	150704990	+	Missense_Mutation	SNP	C	C	A			TCGA-CS-6188-01A-11D-1893-08	TCGA-CS-6188-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adacd0a6-53f0-46c1-9f59-e30cb1b56164	1026b480-665c-4646-8fec-982cc07dca1e	g.chr5:150704990C>A	ENST00000335244.4	-	8	996	c.867G>T	c.(865-867)atG>atT	p.M289I	SLC36A2_ENST00000450886.1_Missense_Mutation_p.M13I|SLC36A2_ENST00000521967.1_Missense_Mutation_p.M289I	NM_181776.2	NP_861441.2	Q495M3	S36A2_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 2	289					cellular nitrogen compound metabolic process	cytoplasm|integral to membrane|plasma membrane	glycine transmembrane transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(14)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGGCATTCTTCATCTTGTTTT	0.468													24	46					1.22574e-08	1.54093e-08	0.069288	1	0	A	150704990	C	A	150704990	3	1	13	1	0	0	0	0	1	0	0	0	14649	826	29	5	596	5	SLC36A2	5	150704990	Missense_Mutation	SNP	C	TCGA-CS-6188-01A-11D-1893-08	10516194	150704990	30210270	14	545											
FAT2	2196	broad.mit.edu	37	5	150922417	150922417	+	Silent	SNP	G	G	A			TCGA-CS-6188-01A-11D-1893-08	TCGA-CS-6188-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adacd0a6-53f0-46c1-9f59-e30cb1b56164	1026b480-665c-4646-8fec-982cc07dca1e	g.chr5:150922417G>A	ENST00000261800.5	-	9	8283	c.8271C>T	c.(8269-8271)caC>caT	p.H2757H		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	2757	Cadherin 24.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGGTGGATTCGTGGTCCATGG	0.512													49	114					0	0	0.139131	0	0	A	150922417	G	A	150922417	2	1	13	1	0	0	0	0	0	0	0	1	5723	1136	40	1		1	FAT2	5	150922417	Silent	SNP	G	TCGA-CS-6188-01A-11D-1893-08	217427	150922417	29992843	15	546											
ATP10B	23120	broad.mit.edu	37	5	160047525	160047525	+	Missense_Mutation	SNP	G	G	A			TCGA-CS-6188-01A-11D-1893-08	TCGA-CS-6188-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adacd0a6-53f0-46c1-9f59-e30cb1b56164	1026b480-665c-4646-8fec-982cc07dca1e	g.chr5:160047525G>A	ENST00000327245.5	-	15	3091	c.2245C>T	c.(2245-2247)Cgc>Tgc	p.R749C	CTC-348L5.1_ENST00000523598.1_RNA	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	749					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TGGGGCAGGCGCACAGTCACC	0.617													16	38					0	0	0.132662	0	0	A	160047525	G	A	160047525	3	1	13	1	0	0	0	0	1	0	0	0	1116	1087	38	1	2188	1	ATP10B	5	160047525	Missense_Mutation	SNP	G	TCGA-CS-6188-01A-11D-1893-08	9125108	160047525	20867735	16	547											
DSP	1832	broad.mit.edu	37	6	7571618	7571618	+	Silent	SNP	G	G	A			TCGA-CS-6188-01A-11D-1893-08	TCGA-CS-6188-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adacd0a6-53f0-46c1-9f59-e30cb1b56164	1026b480-665c-4646-8fec-982cc07dca1e	g.chr6:7571618G>A	ENST00000379802.3	+	14	2045	c.1704G>A	c.(1702-1704)ctG>ctA	p.L568L	DSP_ENST00000418664.2_Silent_p.L568L	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	568	Globular 1.|Interacts with plakophilin 1 and junction plakoglobin.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		CCTTTCAGCTGAAAACAATGC	0.453													110	200					0	0	0.139131	0	0	A	7571618	G	A	7571618	2	1	13	1	0	0	0	0	0	0	0	1	4807	1277	45	2		2	DSP	6	7571618	Silent	SNP	G	TCGA-CS-6188-01A-11D-1893-08		7571618	163543449	17	548											
DSP	1832	broad.mit.edu	37	6	7571689	7571689	+	Missense_Mutation	SNP	G	G	A			TCGA-CS-6188-01A-11D-1893-08	TCGA-CS-6188-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adacd0a6-53f0-46c1-9f59-e30cb1b56164	1026b480-665c-4646-8fec-982cc07dca1e	g.chr6:7571689G>A	ENST00000379802.3	+	14	2116	c.1775G>A	c.(1774-1776)aGa>aAa	p.R592K	DSP_ENST00000418664.2_Missense_Mutation_p.R592K	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	592	Globular 1.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		GAGTTCATCAGAAATAGCCAA	0.453													95	171					0	0	0.139131	0	0	A	7571689	G	A	7571689	3	1	13	1	0	0	0	0	1	0	0	0	4807	942	33	2	1829	2	DSP	6	7571689	Missense_Mutation	SNP	G	TCGA-CS-6188-01A-11D-1893-08	71	7571689	163543378	18	549											
HLA-F	3134	broad.mit.edu	37	6	29693049	29693049	+	Silent	SNP	C	C	T			TCGA-CS-6188-01A-11D-1893-08	TCGA-CS-6188-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adacd0a6-53f0-46c1-9f59-e30cb1b56164	1026b480-665c-4646-8fec-982cc07dca1e	g.chr6:29693049C>T	ENST00000440587.2	+	4	857	c.498C>T	c.(496-498)caC>caT	p.H166H	HLA-F_ENST00000259951.7_Silent_p.H284H|HLA-F_ENST00000376861.1_Silent_p.H284H|HLA-F_ENST00000334668.4_Silent_p.H284H|HLA-F_ENST00000434407.2_Intron			P30511	HLAF_HUMAN	major histocompatibility complex, class I, F	284	Alpha-2.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex	MHC class I receptor activity			cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8						ATGTGCAGCACGAGGGGCTGC	0.597													22	61					0	0	0.069288	0	0	T	29693049	C	T	29693049	2	4	13	1	0	0	0	0	0	0	0	1	7252	535	19	1		1	HLA-F	6	29693049	Silent	SNP	C	TCGA-CS-6188-01A-11D-1893-08	22121360	29693049	141422018	19	550											
CRISP3	10321	broad.mit.edu	37	6	49701500	49701500	+	Missense_Mutation	SNP	G	G	C			TCGA-CS-6188-01A-11D-1893-08	TCGA-CS-6188-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adacd0a6-53f0-46c1-9f59-e30cb1b56164	1026b480-665c-4646-8fec-982cc07dca1e	g.chr6:49701500G>C	ENST00000433368.2	-	5	477	c.408C>G	c.(406-408)atC>atG	p.I136M	CRISP3_ENST00000263045.4_Missense_Mutation_p.I126M|CRISP3_ENST00000393666.1_Missense_Mutation_p.I113M|CRISP3_ENST00000371159.4_Missense_Mutation_p.I144M|CRISP3_ENST00000423399.2_Missense_Mutation_p.I23M	NM_001190986.1	NP_001177915.1	P54108	CRIS3_HUMAN	cysteine-rich secretory protein 3	113					innate immune response	proteinaceous extracellular matrix|specific granule				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|skin(6)|upper_aerodigestive_tract(1)	27	Lung NSC(77;0.0161)		KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)			ACCAGCTTTGGATTGCTTGTG	0.433													49	94					0	0	0.139131	0	0	C	49701500	G	C	49701500	3	2	13	1	0	0	0	0	1	0	0	0	3904	1164	41	5	414	5	CRISP3	6	49701500	Missense_Mutation	SNP	G	TCGA-CS-6188-01A-11D-1893-08	20008451	49701500	121413567	20	551											
BAI3	577	broad.mit.edu	37	6	70048901	70048901	+	Silent	SNP	C	C	T	rs138734026		TCGA-CS-6188-01A-11D-1893-08	TCGA-CS-6188-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adacd0a6-53f0-46c1-9f59-e30cb1b56164	1026b480-665c-4646-8fec-982cc07dca1e	g.chr6:70048901C>T	ENST00000370598.1	+	25	4103	c.3282C>T	c.(3280-3282)aaC>aaT	p.N1094N	BAI3_ENST00000238918.8_Silent_p.N300N|BAI3_ENST00000546190.1_Silent_p.N58N	NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1094					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				CCGCCAGTAACGCCATGTTAG	0.398													49	143					0	0	0.139131	0	0	T	70048901	C	T	70048901	2	4	13	1	0	0	0	0	0	0	0	1	1298	535	19	1		1	BAI3	6	70048901	Silent	SNP	C	TCGA-CS-6188-01A-11D-1893-08	20347401	70048901	101066166	21	552											
LACE1	246269	broad.mit.edu	37	6	108768486	108768486	+	Missense_Mutation	SNP	A	A	G			TCGA-CS-6188-01A-11D-1893-08	TCGA-CS-6188-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adacd0a6-53f0-46c1-9f59-e30cb1b56164	1026b480-665c-4646-8fec-982cc07dca1e	g.chr6:108768486A>G	ENST00000368977.4	+	8	1063	c.877A>G	c.(877-879)Aaa>Gaa	p.K293E		NM_145315.3	NP_660358.2	Q8WV93	LACE1_HUMAN	lactation elevated 1	293							ATP binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	15		all_cancers(87;1.5e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;6.79e-05)|Colorectal(196;0.0294)|all_lung(197;0.0486)|Lung SC(18;0.152)		BRCA - Breast invasive adenocarcinoma(108;0.00179)|Epithelial(106;0.0024)|all cancers(137;0.00379)|OV - Ovarian serous cystadenocarcinoma(136;0.0118)		TGCTGCAGGAAAACTCTACTA	0.328													22	38					0	0	0.099896	0	0	G	108768486	A	G	108768486	3	3	13	1	0	0	0	0	1	0	0	0	8634	15	1	3	907	3	LACE1	6	108768486	Missense_Mutation	SNP	A	TCGA-CS-6188-01A-11D-1893-08	38719585	108768486	62346581	22	553											
CDC40	51362	broad.mit.edu	37	6	110533410	110533410	+	Missense_Mutation	SNP	A	A	G	rs147439944	byFrequency	TCGA-CS-6188-01A-11D-1893-08	TCGA-CS-6188-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adacd0a6-53f0-46c1-9f59-e30cb1b56164	1026b480-665c-4646-8fec-982cc07dca1e	g.chr6:110533410A>G	ENST00000368932.1	+	8	903	c.802A>G	c.(802-804)Act>Gct	p.T268A	CDC40_ENST00000368930.1_Missense_Mutation_p.T268A|CDC40_ENST00000307731.1_Missense_Mutation_p.T268A			O60508	PRP17_HUMAN	cell division cycle 40	268					mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|nucleoplasm				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)	18		all_cancers(87;6.23e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488)		Epithelial(106;0.0221)|all cancers(137;0.0314)|OV - Ovarian serous cystadenocarcinoma(136;0.034)		TCTACGGTCAACTATGCCACC	0.383													35	50					0	0	0.069456	0	0	G	110533410	A	G	110533410	3	3	13	1	0	0	0	0	1	0	0	0	3092	43	2	3	828	3	CDC40	6	110533410	Missense_Mutation	SNP	A	TCGA-CS-6188-01A-11D-1893-08	1764924	110533410	60581657	23	554											
COL1A2	1278	broad.mit.edu	37	7	94043557	94043557	+	Silent	SNP	C	C	T			TCGA-CS-6188-01A-11D-1893-08	TCGA-CS-6188-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adacd0a6-53f0-46c1-9f59-e30cb1b56164	1026b480-665c-4646-8fec-982cc07dca1e	g.chr7:94043557C>T	ENST00000297268.6	+	29	2160	c.1689C>T	c.(1687-1689)ccC>ccT	p.P563P		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	563					axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	CCTCAGGTCCCGCTGGTGAAG	0.428										HNSCC(75;0.22)			11	46					0	0	0.105934	0	0	T	94043557	C	T	94043557	2	4	13	1	0	0	0	0	0	0	0	1	3701	639	23	1		1	COL1A2	7	94043557	Silent	SNP	C	TCGA-CS-6188-01A-11D-1893-08		94043557	65095106	24	555											
LRRC17	10234	broad.mit.edu	37	7	102574365	102574365	+	Missense_Mutation	SNP	G	G	A			TCGA-CS-6188-01A-11D-1893-08	TCGA-CS-6188-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adacd0a6-53f0-46c1-9f59-e30cb1b56164	1026b480-665c-4646-8fec-982cc07dca1e	g.chr7:102574365G>A	ENST00000249377.4	+	2	286	c.5G>A	c.(4-6)cGt>cAt	p.R2H	LRRC17_ENST00000339431.4_Missense_Mutation_p.R2H|FBXL13_ENST00000379308.3_Intron|FBXL13_ENST00000455112.2_Intron|FBXL13_ENST00000456695.1_Intron|FBXL13_ENST00000436908.1_Intron|FBXL13_ENST00000379306.3_Intron|FBXL13_ENST00000393772.2_Intron|FBXL13_ENST00000379305.3_Intron|FBXL13_ENST00000313221.4_Intron	NM_005824.2	NP_005815.2	Q8N6Y2	LRC17_HUMAN	leucine rich repeat containing 17	2					bone marrow development|negative regulation of osteoclast differentiation|ossification	extracellular space				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	17						GTCAGGATGCGTGTGGTTACC	0.493													14	22					0	0	0.105934	0	0	A	102574365	G	A	102574365	3	1	13	1	0	0	0	0	1	0	0	0	9018	1145	40	1	7	1	LRRC17	7	102574365	Missense_Mutation	SNP	G	TCGA-CS-6188-01A-11D-1893-08	8530808	102574365	56564298	25	556											
RELN	5649	broad.mit.edu	37	7	103338477	103338477	+	Silent	SNP	C	C	T			TCGA-CS-6188-01A-11D-1893-08	TCGA-CS-6188-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adacd0a6-53f0-46c1-9f59-e30cb1b56164	1026b480-665c-4646-8fec-982cc07dca1e	g.chr7:103338477C>T	ENST00000424685.2	-	10	1125	c.966G>A	c.(964-966)gaG>gaA	p.E322E	RELN_ENST00000343529.5_Silent_p.E322E|RELN_ENST00000428762.1_Silent_p.E322E			P78509	RELN_HUMAN	reelin	322					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		ATTGGACATTCTCCCCTTTGG	0.458													66	178					0	0	0.139131	0	0	T	103338477	C	T	103338477	2	4	13	1	0	0	0	0	0	0	0	1	13272	912	32	2		2	RELN	7	103338477	Silent	SNP	C	TCGA-CS-6188-01A-11D-1893-08	764112	103338477	55800186	26	557											
RAB11FIP1	80223	broad.mit.edu	37	8	37729419	37729419	+	Silent	SNP	C	C	T			TCGA-CS-6188-01A-11D-1893-08	TCGA-CS-6188-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adacd0a6-53f0-46c1-9f59-e30cb1b56164	1026b480-665c-4646-8fec-982cc07dca1e	g.chr8:37729419C>T	ENST00000330843.4	-	4	2913	c.2901G>A	c.(2899-2901)tcG>tcA	p.S967S	RAB11FIP1_ENST00000287263.4_Intron|RAB11FIP1_ENST00000522727.1_Intron|RAB11FIP1_ENST00000523182.1_5'UTR|RAB11FIP1_ENST00000524118.1_Intron	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 (class I)	967					protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding			NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			TTTCATCATCCGATGCGACTT	0.453													40	87					0	0	0.104719	0	0	T	37729419	C	T	37729419	2	4	13	1	0	0	0	0	0	0	0	1	12945	639	23	1		1	RAB11FIP1	8	37729419	Silent	SNP	C	TCGA-CS-6188-01A-11D-1893-08		37729419	108634603	27	558											
PCMTD1	115294	broad.mit.edu	37	8	52733191	52733191	+	Missense_Mutation	SNP	G	G	T			TCGA-CS-6188-01A-11D-1893-08	TCGA-CS-6188-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adacd0a6-53f0-46c1-9f59-e30cb1b56164	1026b480-665c-4646-8fec-982cc07dca1e	g.chr8:52733191G>T	ENST00000360540.5	-	7	1200	c.794C>A	c.(793-795)gCc>gAc	p.A265D	PCMTD1_ENST00000522514.1_Missense_Mutation_p.A265D|PCMTD1_ENST00000544451.1_Missense_Mutation_p.A189D|PCMTD1_ENST00000519559.1_5'UTR	NM_052937.2	NP_443169.2	Q96MG8	PCMD1_HUMAN	protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1	265						cytoplasm	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity			NS(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(17)|prostate(2)|skin(8)|soft_tissue(1)	37		Lung NSC(129;0.0795)|all_lung(136;0.144)				AATCCCCTTGGCCTGCATCTC	0.413													5	185					1.76689e-08	2.18995e-08	0.058154	1	0	T	52733191	G	T	52733191	3	4	13	1	0	0	0	0	1	0	0	0	11633	1203	42	5	283	5	PCMTD1	8	52733191	Missense_Mutation	SNP	G	TCGA-CS-6188-01A-11D-1893-08	15003772	52733191	93630831	28	559											
SOX17	64321	broad.mit.edu	37	8	55372202	55372202	+	Missense_Mutation	SNP	G	G	A			TCGA-CS-6188-01A-11D-1893-08	TCGA-CS-6188-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adacd0a6-53f0-46c1-9f59-e30cb1b56164	1026b480-665c-4646-8fec-982cc07dca1e	g.chr8:55372202G>A	ENST00000297316.4	+	2	1096	c.892G>A	c.(892-894)Ggc>Agc	p.G298S		NM_022454.3	NP_071899.1	Q9H6I2	SOX17_HUMAN	SRY (sex determining region Y)-box 17	298	Sox C-terminal.				angiogenesis|cardiac cell fate determination|endocardial cell differentiation|endocardium formation|endoderm formation|heart formation|heart looping|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|outflow tract morphogenesis|positive regulation of transcription, DNA-dependent|protein destabilization|protein stabilization|regulation of embryonic development|renal system development|vasculogenesis|Wnt receptor signaling pathway	transcription factor complex	beta-catenin binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription factor binding|transcription regulatory region DNA binding			endometrium(6)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)	18		Lung NSC(129;0.109)|all_epithelial(80;0.176)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;1.9e-07)|Epithelial(17;1.7e-05)|all cancers(17;0.000159)			CGTGTACTACGGCGCGATGGG	0.766													2	0					0	0	0.115264	0	0	A	55372202	G	A	55372202	3	1	13	1	0	0	0	0	1	0	0	0	15001	1116	39	1	898	1	SOX17	8	55372202	Missense_Mutation	SNP	G	TCGA-CS-6188-01A-11D-1893-08	2639011	55372202	90991820	29	560											
FAM135B	51059	broad.mit.edu	37	8	139158292	139158292	+	Splice_Site	DEL	C	C	-			TCGA-CS-6188-01A-11D-1893-08	TCGA-CS-6188-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adacd0a6-53f0-46c1-9f59-e30cb1b56164	1026b480-665c-4646-8fec-982cc07dca1e	g.chr8:139158292delC	ENST00000395297.1	-	15	3620	c.3450delG	c.(3448-3450)ggg>gg	p.G1150fs		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	1150										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			CTGCACTGTTCCCTAAAAATG	0.448										HNSCC(54;0.14)			32	97	---	---	---	---						-	139158292	C	-	139158292	8	5	13	1	0	1	0	1	0	0	1	0	5480	869	30	0	794	0	FAM135B	8	139158292	Splice_Site	DEL	C	TCGA-CS-6188-01A-11D-1893-08	83786090	139158292	7205730	30	561											
EPPK1	83481	broad.mit.edu	37	8	144942253	144942253	+	Silent	SNP	G	G	A			TCGA-CS-6188-01A-11D-1893-08	TCGA-CS-6188-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adacd0a6-53f0-46c1-9f59-e30cb1b56164	1026b480-665c-4646-8fec-982cc07dca1e	g.chr8:144942253G>A	ENST00000525985.1	-	2	5240	c.5169C>T	c.(5167-5169)gaC>gaT	p.D1723D				P58107	EPIPL_HUMAN	epiplakin 1	1723						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)			CCTTGGTGTCGTCGCTGGGGT	0.657													48	84					0	0	0.139131	0	0	A	144942253	G	A	144942253	2	1	13	1	0	0	0	0	0	0	0	1	5218	1136	40	1		1	EPPK1	8	144942253	Silent	SNP	G	TCGA-CS-6188-01A-11D-1893-08	5783961	144942253	1421769	31	562											
PALM2-AKAP2	445815	broad.mit.edu	37	9	112900626	112900626	+	Silent	SNP	C	C	T			TCGA-CS-6188-01A-11D-1893-08	TCGA-CS-6188-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adacd0a6-53f0-46c1-9f59-e30cb1b56164	1026b480-665c-4646-8fec-982cc07dca1e	g.chr9:112900626C>T	ENST00000374530.3	+	8	2982	c.2802C>T	c.(2800-2802)gaC>gaT	p.D934D	AKAP2_ENST00000434623.2_Silent_p.D792D|AKAP2_ENST00000555236.1_Silent_p.D934D|PALM2-AKAP2_ENST00000302798.7_Silent_p.D934D|AKAP2_ENST00000510514.5_Silent_p.D934D|AKAP2_ENST00000259318.7_Silent_p.D703D|AKAP2_ENST00000482335.1_3'UTR|AKAP2_ENST00000374525.1_Silent_p.D792D	NM_007203.4|NM_147150.2	NP_009134.1|NP_671492.1	Q9Y2D5	AKAP2_HUMAN		703							enzyme binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	44						AAGAATCTGACGTGATGGTTG	0.547													13	39					0	0	0.09319	0	0	T	112900626	C	T	112900626	2	4	13	1	0	0	0	0	0	0	0	1	11457	535	19	1		1	PALM2-AKAP2	9	112900626	Silent	SNP	C	TCGA-CS-6188-01A-11D-1893-08		112900626	28312805	32	563											
OLFM1	10439	broad.mit.edu	37	9	137998621	137998621	+	Missense_Mutation	SNP	G	G	A			TCGA-CS-6188-01A-11D-1893-08	TCGA-CS-6188-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adacd0a6-53f0-46c1-9f59-e30cb1b56164	1026b480-665c-4646-8fec-982cc07dca1e	g.chr9:137998621G>A	ENST00000252854.4	+	5	836	c.649G>A	c.(649-651)Gac>Aac	p.D217N	OLFM1_ENST00000371793.3_Missense_Mutation_p.D235N|OLFM1_ENST00000371796.3_Missense_Mutation_p.D208N	NM_014279.4	NP_055094.1	Q99784	NOE1_HUMAN	olfactomedin 1	235					nervous system development	endoplasmic reticulum lumen	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)	21		Myeloproliferative disorder(178;0.0333)		Epithelial(140;5.49e-08)|OV - Ovarian serous cystadenocarcinoma(145;9.68e-08)|all cancers(34;1.88e-07)		GGGCATCAGTGACCCCGTGAC	0.637													8	22					0	0	0.058154	0	0	A	137998621	G	A	137998621	3	1	13	1	0	0	0	0	1	0	0	0	10900	1290	45	2	677	2	OLFM1	9	137998621	Missense_Mutation	SNP	G	TCGA-CS-6188-01A-11D-1893-08	25097995	137998621	3214810	33	564											
KIF20B	9585	broad.mit.edu	37	10	91498265	91498265	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-6188-01A-11D-1893-08	TCGA-CS-6188-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adacd0a6-53f0-46c1-9f59-e30cb1b56164	1026b480-665c-4646-8fec-982cc07dca1e	g.chr10:91498265C>T	ENST00000416354.1	+	20	3829	c.3757C>T	c.(3757-3759)Ctc>Ttc	p.L1253F	KIF20B_ENST00000260753.4_Missense_Mutation_p.L1183F|KIF20B_ENST00000371728.3_Missense_Mutation_p.L1223F|KIF20B_ENST00000394289.2_Missense_Mutation_p.L1223F|KIF20B_ENST00000478929.1_3'UTR			Q96Q89	KI20B_HUMAN	kinesin family member 20B	1223					cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis	centrosome|microtubule|nucleolus|nucleoplasm|spindle	ATP binding|ATPase activity|microtubule motor activity|WW domain binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						TGTAAAGGAACTCAAGCTGAA	0.299													13	23					0	0	0.038395	0	0	T	91498265	C	T	91498265	3	4	13	1	0	0	0	0	1	0	0	0	8329	565	20	2	3621	2	KIF20B	10	91498265	Missense_Mutation	SNP	C	TCGA-CS-6188-01A-11D-1893-08		91498265	44036482	34	565											
CABP2	51475	broad.mit.edu	37	11	67287316	67287316	+	Silent	SNP	G	G	A			TCGA-CS-6188-01A-11D-1893-08	TCGA-CS-6188-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adacd0a6-53f0-46c1-9f59-e30cb1b56164	1026b480-665c-4646-8fec-982cc07dca1e	g.chr11:67287316G>A	ENST00000294288.4	-	6	654	c.585C>T	c.(583-585)gaC>gaT	p.D195D	CABP2_ENST00000353903.5_Silent_p.D138D	NM_016366.2	NP_057450.2	Q9NPB3	CABP2_HUMAN	calcium binding protein 2	195	EF-hand 4.				signal transduction	Golgi apparatus|perinuclear region of cytoplasm|plasma membrane	calcium ion binding			endometrium(2)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	9						GGAGGATCTCGTCCACCTCCC	0.667													17	58					0	0	0.049695	0	0	A	67287316	G	A	67287316	2	1	13	1	0	0	0	0	0	0	0	1	2550	1136	40	1		1	CABP2	11	67287316	Silent	SNP	G	TCGA-CS-6188-01A-11D-1893-08		67287316	67719200	35	566											
C11orf53	341032	broad.mit.edu	37	11	111154951	111154951	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-6188-01A-11D-1893-08	TCGA-CS-6188-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adacd0a6-53f0-46c1-9f59-e30cb1b56164	1026b480-665c-4646-8fec-982cc07dca1e	g.chr11:111154951C>T	ENST00000280325.4	+	3	305	c.158C>T	c.(157-159)gCg>gTg	p.A53V		NM_198498.1	NP_940900.1	Q8IXP5	CK053_HUMAN	chromosome 11 open reading frame 53	53										endometrium(1)|large_intestine(2)|lung(3)|skin(2)	8		all_cancers(61;2.05e-09)|Melanoma(852;4.04e-05)|all_epithelial(67;6.15e-05)|all_hematologic(158;0.000826)|Acute lymphoblastic leukemia(157;0.000966)|all_neural(223;0.0332)|Medulloblastoma(222;0.0425)|Breast(348;0.147)		Epithelial(105;1.7e-06)|BRCA - Breast invasive adenocarcinoma(274;3.16e-06)|all cancers(92;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0507)		CAGAGCCATGCGGCTCTCCTG	0.622													5	193					0	0	0.014758	0	0	T	111154951	C	T	111154951	3	4	13	1	0	0	0	0	1	0	0	0	1653	768	27	1	164	1	C11orf53	11	111154951	Missense_Mutation	SNP	C	TCGA-CS-6188-01A-11D-1893-08	43867635	111154951	23851565	36	567											
VPS11	55823	broad.mit.edu	37	11	118941054	118941054	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-6188-01A-11D-1893-08	TCGA-CS-6188-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adacd0a6-53f0-46c1-9f59-e30cb1b56164	1026b480-665c-4646-8fec-982cc07dca1e	g.chr11:118941054C>T	ENST00000300793.6	+	5	622	c.580C>T	c.(580-582)Cgc>Tgc	p.R194C	VPS11_ENST00000527798.1_3'UTR	NM_021729.4	NP_068375.3	Q9H270	VPS11_HUMAN	vacuolar protein sorting 11 homolog (S. cerevisiae)	195					protein transport	endocytic vesicle|HOPS complex|late endosome membrane|lysosomal membrane	nucleotide binding|protein binding|zinc ion binding			autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	29	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.88e-05)		ATTGGCCTTTCGCCAAGCAGG	0.517													12	23					0	0	0.11911	0	0	T	118941054	C	T	118941054	3	4	13	1	0	0	0	0	1	0	0	0	17248	884	31	1	596	1	VPS11	11	118941054	Missense_Mutation	SNP	C	TCGA-CS-6188-01A-11D-1893-08	7786103	118941054	16065462	37	568											
SLC2A3	6515	broad.mit.edu	37	12	8083869	8083869	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-6188-01A-11D-1893-08	TCGA-CS-6188-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adacd0a6-53f0-46c1-9f59-e30cb1b56164	1026b480-665c-4646-8fec-982cc07dca1e	g.chr12:8083869C>T	ENST00000075120.7	-	4	722	c.482G>A	c.(481-483)gGc>gAc	p.G161D		NM_006931.2	NP_008862.1	P11169	GTR3_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 3	161					carbohydrate metabolic process|water-soluble vitamin metabolic process	integral to membrane|plasma membrane	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity			central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(14)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				Kidney(36;0.0866)		AACAACGATGCCCAGCTGGTT	0.488													26	100					0	0	0.108266	0	0	T	8083869	C	T	8083869	3	4	13	1	0	0	0	0	1	0	0	0	14600	739	26	2	1036	2	SLC2A3	12	8083869	Missense_Mutation	SNP	C	TCGA-CS-6188-01A-11D-1893-08		8083869	125768026	38	569											
GPC5	2262	broad.mit.edu	37	13	92101015	92101015	+	Splice_Site	SNP	G	G	T			TCGA-CS-6188-01A-11D-1893-08	TCGA-CS-6188-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adacd0a6-53f0-46c1-9f59-e30cb1b56164	1026b480-665c-4646-8fec-982cc07dca1e	g.chr13:92101015G>T	ENST00000377067.3	+	2	536	c.164G>T	c.(163-165)gGa>gTa	p.G55V		NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN	glypican 5	55						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				TGTGTTCCAGGACCTGATCTT	0.413													22	46					1.10513e-12	1.40945e-12	0.069288	1	0	T	92101015	G	T	92101015	5	4	13	1	0	0	0	0	0	0	1	0	6641	1188	41	5	170	5	GPC5	13	92101015	Splice_Site	SNP	G	TCGA-CS-6188-01A-11D-1893-08		92101015	23068863	39	570											
ACIN1	22985	broad.mit.edu	37	14	23550990	23550990	+	Silent	SNP	C	C	T			TCGA-CS-6188-01A-11D-1893-08	TCGA-CS-6188-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adacd0a6-53f0-46c1-9f59-e30cb1b56164	1026b480-665c-4646-8fec-982cc07dca1e	g.chr14:23550990C>T	ENST00000262710.1	-	5	993	c.666G>A	c.(664-666)agG>agA	p.R222R	ACIN1_ENST00000457657.1_Silent_p.R182R|ACIN1_ENST00000605057.1_Silent_p.R164R|ACIN1_ENST00000555053.1_Silent_p.R222R	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	222	Glu-rich.				apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding			breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		TTTCTCCTTTCCTTGGTTTCT	0.388													33	67					0	0	0.080422	0	0	T	23550990	C	T	23550990	2	4	13	1	0	0	0	0	0	0	0	1	142	854	30	2		2	ACIN1	14	23550990	Silent	SNP	C	TCGA-CS-6188-01A-11D-1893-08		23550990	83798550	40	571											
SSTR1	6751	broad.mit.edu	37	14	38679008	38679008	+	Silent	SNP	G	G	C			TCGA-CS-6188-01A-11D-1893-08	TCGA-CS-6188-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adacd0a6-53f0-46c1-9f59-e30cb1b56164	1026b480-665c-4646-8fec-982cc07dca1e	g.chr14:38679008G>C	ENST00000267377.2	+	3	1031	c.414G>C	c.(412-414)gcG>gcC	p.A138A		NM_001049.2	NP_001040.1	P30872	SSR1_HUMAN	somatostatin receptor 1	138					digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation|response to nutrient	integral to plasma membrane	somatostatin receptor activity			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00444)	Octreotide(DB00104)	GCGTGGACGCGGTCAACATGT	0.647													5	200					0	0	0.021553	0	0	C	38679008	G	C	38679008	2	2	13	1	0	0	0	0	0	0	0	1	15253	1103	39	5		5	SSTR1	14	38679008	Silent	SNP	G	TCGA-CS-6188-01A-11D-1893-08	15128018	38679008	68670532	41	572											
AK7	122481	broad.mit.edu	37	14	96875258	96875258	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-6188-01A-11D-1893-08	TCGA-CS-6188-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adacd0a6-53f0-46c1-9f59-e30cb1b56164	1026b480-665c-4646-8fec-982cc07dca1e	g.chr14:96875258C>T	ENST00000267584.4	+	4	522	c.478C>T	c.(478-480)Cgc>Tgc	p.R160C	AK7_ENST00000554313.1_3'UTR	NM_152327.3	NP_689540.2	Q96M32	KAD7_HUMAN	adenylate kinase 7	160					cell projection organization	cytosol	adenylate kinase activity|ATP binding|cytidylate kinase activity			breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)		GACTTGGGCGCGCTCCAAAGC	0.473													5	68					0	0	0.021553	0	0	T	96875258	C	T	96875258	3	4	13	1	0	0	0	0	1	0	0	0	441	768	27	1	492	1	AK7	14	96875258	Missense_Mutation	SNP	C	TCGA-CS-6188-01A-11D-1893-08	58196250	96875258	10474282	42	573											
PLA2G4D	283748	broad.mit.edu	37	15	42371771	42371771	+	Silent	SNP	C	C	G			TCGA-CS-6188-01A-11D-1893-08	TCGA-CS-6188-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adacd0a6-53f0-46c1-9f59-e30cb1b56164	1026b480-665c-4646-8fec-982cc07dca1e	g.chr15:42371771C>G	ENST00000290472.3	-	13	1375	c.1281G>C	c.(1279-1281)ctG>ctC	p.L427L		NM_178034.3	NP_828848.3	Q86XP0	PA24D_HUMAN	phospholipase A2, group IVD (cytosolic)	427	PLA2c.				phospholipid catabolic process	cytoplasmic vesicle membrane|cytosol	metal ion binding|phospholipase A2 activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245)		OV - Ovarian serous cystadenocarcinoma(18;4.9e-17)|GBM - Glioblastoma multiforme(94;1.02e-06)		CTAGCGCCCACAGGTCCACAA	0.701													11	15					0	0	0.069234	0	0	G	42371771	C	G	42371771	2	3	13	1	0	0	0	0	0	0	0	1	12052	465	17	5		5	PLA2G4D	15	42371771	Silent	SNP	C	TCGA-CS-6188-01A-11D-1893-08		42371771	60159621	43	574											
ITGA11	22801	broad.mit.edu	37	15	68620499	68620499	+	Missense_Mutation	SNP	C	C	A			TCGA-CS-6188-01A-11D-1893-08	TCGA-CS-6188-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adacd0a6-53f0-46c1-9f59-e30cb1b56164	1026b480-665c-4646-8fec-982cc07dca1e	g.chr15:68620499C>A	ENST00000423218.2	-	16	2098	c.2003G>T	c.(2002-2004)tGc>tTc	p.C668F	ITGA11_ENST00000315757.7_Missense_Mutation_p.C668F			Q9UKX5	ITA11_HUMAN	integrin, alpha 11	668					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development	integrin complex	collagen binding|receptor activity	p.C668F(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52					Tirofiban(DB00775)	GGCGGCCAGGCAGGTGGCATC	0.577													10	71					1.11149e-13	1.4384e-13	0.069234	1	0	A	68620499	C	A	68620499	3	1	13	1	0	0	0	0	1	0	0	0	7918	710	25	5	1623	5	ITGA11	15	68620499	Missense_Mutation	SNP	C	TCGA-CS-6188-01A-11D-1893-08	26248728	68620499	33910893	44	575											
CDYL2	124359	broad.mit.edu	37	16	80646582	80646582	+	Missense_Mutation	SNP	G	G	A			TCGA-CS-6188-01A-11D-1893-08	TCGA-CS-6188-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adacd0a6-53f0-46c1-9f59-e30cb1b56164	1026b480-665c-4646-8fec-982cc07dca1e	g.chr16:80646582G>A	ENST00000570137.2	-	5	1314	c.1159C>T	c.(1159-1161)Cgc>Tgc	p.R387C	CDYL2_ENST00000563890.1_Missense_Mutation_p.R388C|CDYL2_ENST00000566173.1_Missense_Mutation_p.R388C|CDYL2_ENST00000562812.1_Missense_Mutation_p.R388C	NM_152342.2	NP_689555.2	Q8N8U2	CDYL2_HUMAN	chromodomain protein, Y-like 2							nucleus	catalytic activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	21						GGCGTGAGGCGGATGGTGGCG	0.657													37	83					0	0	0.069456	0	0	A	80646582	G	A	80646582	3	1	13	1	0	0	0	0	1	0	0	0	3208	1116	39	1	373	1	CDYL2	16	80646582	Missense_Mutation	SNP	G	TCGA-CS-6188-01A-11D-1893-08		80646582	9708171	45	576											
MYOCD	93649	broad.mit.edu	37	17	12656007	12656007	+	Missense_Mutation	SNP	G	G	A			TCGA-CS-6188-01A-11D-1893-08	TCGA-CS-6188-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adacd0a6-53f0-46c1-9f59-e30cb1b56164	1026b480-665c-4646-8fec-982cc07dca1e	g.chr17:12656007G>A	ENST00000425538.1	+	10	1602	c.1402G>A	c.(1402-1404)Gct>Act	p.A468T	MYOCD_ENST00000343344.4_Missense_Mutation_p.A468T|MYOCD_ENST00000395988.1_3'UTR|AC005358.1_ENST00000609971.1_Missense_Mutation_p.A372T	NM_001146312.1|NM_153604.2	NP_001139784.1|NP_705832.1	Q8IZQ8	MYCD_HUMAN	myocardin	468	Ser-rich.				cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding	p.A468T(1)		breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		CCTGTCAGTCGCTGGGTCCCT	0.627													37	67					0	0	0.064281	0	0	A	12656007	G	A	12656007	3	1	13	1	0	0	0	0	1	0	0	0	10135	1087	38	1	1440	1	MYOCD	17	12656007	Missense_Mutation	SNP	G	TCGA-CS-6188-01A-11D-1893-08		12656007	68539203	46	577											
HGS	9146	broad.mit.edu	37	17	79657241	79657241	+	Missense_Mutation	SNP	G	G	A			TCGA-CS-6188-01A-11D-1893-08	TCGA-CS-6188-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adacd0a6-53f0-46c1-9f59-e30cb1b56164	1026b480-665c-4646-8fec-982cc07dca1e	g.chr17:79657241G>A	ENST00000329138.4	+	6	580	c.445G>A	c.(445-447)Gat>Aat	p.D149N		NM_004712.4	NP_004703.1	O14964	HGS_HUMAN	hepatocyte growth factor-regulated tyrosine kinase substrate	149					cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of JAK-STAT cascade|regulation of protein catabolic process	cytosol|early endosome membrane|multivesicular body membrane	metal ion binding|protein domain specific binding			endometrium(2)|kidney(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12	all_neural(118;0.0878)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)			CAAAGAGAGCGATGCCATGTT	0.617													39	70					0	0	0.117977	0	0	A	79657241	G	A	79657241	3	1	13	1	0	0	0	0	1	0	0	0	7128	1058	37	1	467	1	HGS	17	79657241	Missense_Mutation	SNP	G	TCGA-CS-6188-01A-11D-1893-08	67001234	79657241	1537969	47	578											
ZNF555	148254	broad.mit.edu	37	19	2852903	2852903	+	Silent	SNP	C	C	T	rs148620935		TCGA-CS-6188-01A-11D-1893-08	TCGA-CS-6188-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adacd0a6-53f0-46c1-9f59-e30cb1b56164	1026b480-665c-4646-8fec-982cc07dca1e	g.chr19:2852903C>T	ENST00000334241.4	+	4	978	c.840C>T	c.(838-840)ggC>ggT	p.G280G	ZNF555_ENST00000591539.1_Silent_p.G279G|AC006130.3_ENST00000589365.1_RNA	NM_001172775.1|NM_152791.4	NP_001166246.1|NP_690004.4	Q8NEP9	ZN555_HUMAN	zinc finger protein 555	280					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(3)|urinary_tract(4)	23				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)		CACACACTGGCGAGAAGCCAT	0.408													22	55					0	0	0.076483	0	0	T	2852903	C	T	2852903	2	4	13	1	0	0	0	0	0	0	0	1	18043	755	27	1		1	ZNF555	19	2852903	Silent	SNP	C	TCGA-CS-6188-01A-11D-1893-08		2852903	56276080	48	579											
CD209	30835	broad.mit.edu	37	19	7810483	7810483	+	Missense_Mutation	SNP	C	C	A	rs11465379	byFrequency	TCGA-CS-6188-01A-11D-1893-08	TCGA-CS-6188-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adacd0a6-53f0-46c1-9f59-e30cb1b56164	1026b480-665c-4646-8fec-982cc07dca1e	g.chr19:7810483C>A	ENST00000315599.7	-	4	691	c.669G>T	c.(667-669)aaG>aaT	p.K223N	CD209_ENST00000593660.1_Intron|CD209_ENST00000394173.4_Intron|CD209_ENST00000315591.8_Missense_Mutation_p.K199N|CD209_ENST00000204801.8_Missense_Mutation_p.K179N|CD209_ENST00000601256.1_Missense_Mutation_p.K199N|CD209_ENST00000602261.1_Intron|CD209_ENST00000301357.8_Intron|CD209_ENST00000354397.6_Missense_Mutation_p.K223N|CD209_ENST00000601951.1_Missense_Mutation_p.K199N|CD209_ENST00000394161.5_Intron|CD209_ENST00000593821.1_Intron	NM_001144895.1|NM_001144897.1|NM_021155.3	NP_001138367.1|NP_001138369.1|NP_066978.1	Q9NNX6	CD209_HUMAN	CD209 molecule	223	7 X approximate tandem repeats.				cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to membrane|plasma membrane	mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding			endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						CCACTGCAGCCTTCAGCCGGG	0.572													39	144					1.26778e-28	1.69037e-28	0.139131	1	0	A	7810483	C	A	7810483	3	1	13	1	0	0	0	0	1	0	0	0	3006	680	24	4	561	4	CD209	19	7810483	Missense_Mutation	SNP	C	TCGA-CS-6188-01A-11D-1893-08	4957580	7810483	51318500	49	580											
CD209	30835	broad.mit.edu	37	19	7810552	7810552	+	Missense_Mutation	SNP	C	C	A			TCGA-CS-6188-01A-11D-1893-08	TCGA-CS-6188-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adacd0a6-53f0-46c1-9f59-e30cb1b56164	1026b480-665c-4646-8fec-982cc07dca1e	g.chr19:7810552C>A	ENST00000315599.7	-	4	622	c.600G>T	c.(598-600)aaG>aaT	p.K200N	CD209_ENST00000593660.1_Missense_Mutation_p.K176N|CD209_ENST00000394173.4_Intron|CD209_ENST00000315591.8_Missense_Mutation_p.K176N|CD209_ENST00000204801.8_Missense_Mutation_p.K156N|CD209_ENST00000601256.1_Missense_Mutation_p.K176N|CD209_ENST00000602261.1_Intron|CD209_ENST00000301357.8_Intron|CD209_ENST00000354397.6_Missense_Mutation_p.K200N|CD209_ENST00000601951.1_Missense_Mutation_p.K176N|CD209_ENST00000394161.5_Intron|CD209_ENST00000593821.1_Intron	NM_001144895.1|NM_001144897.1|NM_021155.3	NP_001138367.1|NP_001138369.1|NP_066978.1	Q9NNX6	CD209_HUMAN	CD209 molecule	200	7 X approximate tandem repeats.				cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to membrane|plasma membrane	mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding			endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						CCACTGCAGCCTTCAGCCGGG	0.557													6	216					0.000151284	0.000184903	0.105934	1	0	A	7810552	C	A	7810552	3	1	13	1	0	0	0	0	1	0	0	0	3006	680	24	4	630	4	CD209	19	7810552	Missense_Mutation	SNP	C	TCGA-CS-6188-01A-11D-1893-08	69	7810552	51318431	50	581											
GPATCH1	55094	broad.mit.edu	37	19	33608853	33608853	+	Silent	SNP	A	A	G			TCGA-CS-6188-01A-11D-1893-08	TCGA-CS-6188-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adacd0a6-53f0-46c1-9f59-e30cb1b56164	1026b480-665c-4646-8fec-982cc07dca1e	g.chr19:33608853A>G	ENST00000170564.2	+	16	2633	c.2319A>G	c.(2317-2319)caA>caG	p.Q773Q		NM_018025.2	NP_060495.2	Q9BRR8	GPTC1_HUMAN	G patch domain containing 1	773						catalytic step 2 spliceosome	nucleic acid binding			breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|prostate(4)|skin(4)	40	Esophageal squamous(110;0.137)					AGGATGAGCAAGGTGACAGTG	0.537													25	55					0	0	0.108266	0	0	G	33608853	A	G	33608853	2	3	13	1	0	0	0	0	0	0	0	1	6630	69	3	3		3	GPATCH1	19	33608853	Silent	SNP	A	TCGA-CS-6188-01A-11D-1893-08	25798301	33608853	25520130	51	582											
LILRA2	11027	broad.mit.edu	37	19	55087420	55087420	+	Missense_Mutation	SNP	C	C	G			TCGA-CS-6188-01A-11D-1893-08	TCGA-CS-6188-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adacd0a6-53f0-46c1-9f59-e30cb1b56164	1026b480-665c-4646-8fec-982cc07dca1e	g.chr19:55087420C>G	ENST00000251377.3	+	7	1232	c.1099C>G	c.(1099-1101)Ctg>Gtg	p.L367V	LILRA2_ENST00000391737.1_Missense_Mutation_p.L355V|LILRB1_ENST00000418536.2_Intron|LILRA2_ENST00000391738.3_Missense_Mutation_p.L367V|LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000448689.1_Intron|LILRA2_ENST00000251376.3_Missense_Mutation_p.L367V					leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2											breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50				GBM - Glioblastoma multiforme(193;0.0963)		CCCACTGCATCTGAGATCAGA	0.587													34	94					0	0	0.092188	0	0	G	55087420	C	G	55087420	3	3	13	1	0	0	0	0	1	0	0	0	8825	912	32	4	1121	4	LILRA2	19	55087420	Missense_Mutation	SNP	C	TCGA-CS-6188-01A-11D-1893-08	21478567	55087420	4041563	52	583											
RIPK4	54101	broad.mit.edu	37	21	43161015	43161015	+	Missense_Mutation	SNP	G	G	A	rs140909597		TCGA-CS-6188-01A-11D-1893-08	TCGA-CS-6188-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adacd0a6-53f0-46c1-9f59-e30cb1b56164	1026b480-665c-4646-8fec-982cc07dca1e	g.chr21:43161015G>A	ENST00000352483.2	-	9	2546	c.2482C>T	c.(2482-2484)Cgg>Tgg	p.R828W	RIPK4_ENST00000542057.1_Missense_Mutation_p.R717W|RIPK4_ENST00000544709.1_Missense_Mutation_p.R717W|RIPK4_ENST00000332512.3_Missense_Mutation_p.R780W|AP001615.9_ENST00000423276.1_RNA			Q96T11	Q96T11_HUMAN	receptor-interacting serine-threonine kinase 4	780						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						TTGCTTCGCCGCAGGAGCGTG	0.667													15	29					0	0	0.132662	0	0	A	43161015	G	A	43161015	3	1	13	1	0	0	0	0	1	0	0	0	13435	1086	38	1	20	1	RIPK4	21	43161015	Missense_Mutation	SNP	G	TCGA-CS-6188-01A-11D-1893-08		43161015	4968880	53	584											
IL22RA1	58985	broad.mit.edu	37	1	24447958	24447958	+	Silent	SNP	G	G	A			TCGA-CS-6290-01A-11D-1705-08	TCGA-CS-6290-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a31a094-fbeb-44ff-a939-16f71a0ba8d8	e6c5bbe0-666a-406b-bc8f-de3d71f88961	g.chr1:24447958G>A	ENST00000270800.1	-	7	1100	c.1062C>T	c.(1060-1062)aaC>aaT	p.N354N		NM_021258.3	NP_067081.2	Q8N6P7	I22R1_HUMAN	interleukin 22 receptor, alpha 1	354						integral to membrane	interferon receptor activity			breast(2)|endometrium(2)|large_intestine(4)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000992)|all_lung(284;0.00138)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-24)|Colorectal(126;6.43e-08)|COAD - Colon adenocarcinoma(152;3.51e-06)|GBM - Glioblastoma multiforme(114;5.06e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00911)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.148)		CAGGGGCAGCGTTTGGGGCAT	0.607													47	66					0	0	0.870114	0	0	A	24447958	G	A	24447958	2	1	14	1	0	0	0	0	0	0	0	1	7717	1136	40	1		1	IL22RA1	1	24447958	Silent	SNP	G	TCGA-CS-6290-01A-11D-1705-08		24447958	224802663	1	585											
PCSK9	255738	broad.mit.edu	37	1	55523126	55523126	+	Silent	SNP	C	C	T	rs139683719		TCGA-CS-6290-01A-11D-1705-08	TCGA-CS-6290-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a31a094-fbeb-44ff-a939-16f71a0ba8d8	e6c5bbe0-666a-406b-bc8f-de3d71f88961	g.chr1:55523126C>T	ENST00000302118.5	+	7	1409	c.1119C>T	c.(1117-1119)agC>agT	p.S373S	PCSK9_ENST00000490692.1_3'UTR|PCSK9_ENST00000543384.1_Silent_p.S173S	NM_174936.3	NP_777596.2	Q8NBP7	PCSK9_HUMAN	proprotein convertase subtilisin/kexin type 9	373	Peptidase S8.				cellular response to insulin stimulus|cellular response to starvation|cholesterol homeostasis|cholesterol metabolic process|kidney development|liver development|low-density lipoprotein particle receptor catabolic process|lysosomal transport|negative regulation of catalytic activity|negative regulation of low-density lipoprotein particle clearance|negative regulation of receptor recycling|neuron differentiation|positive regulation of neuron apoptosis|positive regulation of receptor internalization|protein autoprocessing|regulation of receptor activity	extracellular space|late endosome|lysosome|perinuclear region of cytoplasm	apolipoprotein receptor binding|identical protein binding|low-density lipoprotein particle receptor binding|serine-type endopeptidase activity|very-low-density lipoprotein particle receptor binding			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(1)|liver(2)|lung(4)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	32						GTGCCTCCAGCGACTGCAGCA	0.617													7	25					0	0	0.27861	0	0	T	55523126	C	T	55523126	2	4	14	1	0	0	0	0	0	0	0	1	11653	767	27	1		1	PCSK9	1	55523126	Silent	SNP	C	TCGA-CS-6290-01A-11D-1705-08	31075168	55523126	193727495	2	586											
AMPD2	271	broad.mit.edu	37	1	110170831	110170831	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-6290-01A-11D-1705-08	TCGA-CS-6290-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a31a094-fbeb-44ff-a939-16f71a0ba8d8	e6c5bbe0-666a-406b-bc8f-de3d71f88961	g.chr1:110170831C>T	ENST00000256578.3	+	10	1729	c.1369C>T	c.(1369-1371)Cgg>Tgg	p.R457W	AMPD2_ENST00000528667.1_Missense_Mutation_p.R457W|AMPD2_ENST00000528454.1_Missense_Mutation_p.R339W|AMPD2_ENST00000393688.3_Missense_Mutation_p.R338W|AMPD2_ENST00000526301.1_3'UTR|AMPD2_ENST00000358729.4_Missense_Mutation_p.R382W|AMPD2_ENST00000342115.4_Missense_Mutation_p.R376W	NM_004037.7	NP_004028.3	Q01433	AMPD2_HUMAN	adenosine monophosphate deaminase 2	457					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			breast(1)|large_intestine(3)|ovary(2)|skin(1)	7		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.0425)|all cancers(265;0.0884)|Colorectal(144;0.109)|Epithelial(280;0.111)|LUSC - Lung squamous cell carcinoma(189;0.228)		ACAGACGCTGCGGGAGGTCTT	0.602													12	19					0	0	0.435327	0	0	T	110170831	C	T	110170831	3	4	14	1	0	0	0	0	1	0	0	0	582	759	27	1	1448	1	AMPD2	1	110170831	Missense_Mutation	SNP	C	TCGA-CS-6290-01A-11D-1705-08	54647705	110170831	139079790	3	587											
CR2	1380	broad.mit.edu	37	1	207648381	207648381	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-6290-01A-11D-1705-08	TCGA-CS-6290-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a31a094-fbeb-44ff-a939-16f71a0ba8d8	e6c5bbe0-666a-406b-bc8f-de3d71f88961	g.chr1:207648381C>T	ENST00000367057.3	+	14	2725	c.2536C>T	c.(2536-2538)Cgc>Tgc	p.R846C	CR2_ENST00000458541.2_Missense_Mutation_p.R760C|CR2_ENST00000367059.3_Missense_Mutation_p.R787C|CR2_ENST00000367058.3_Missense_Mutation_p.R787C	NM_001006658.2	NP_001006659.1	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	911					complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity	p.R846S(1)		NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						TCCTGTGACTCGCTGCCCTAA	0.463													28	78					0	0	0.706142	0	0	T	207648381	C	T	207648381	3	4	14	1	0	0	0	0	1	0	0	0	3865	884	31	1	2590	1	CR2	1	207648381	Missense_Mutation	SNP	C	TCGA-CS-6290-01A-11D-1705-08	97477550	207648381	41602240	4	588											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-CS-6290-01A-11D-1705-08	TCGA-CS-6290-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a31a094-fbeb-44ff-a939-16f71a0ba8d8	e6c5bbe0-666a-406b-bc8f-de3d71f88961	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								17	60					0	0	0.520397	0	0	T	209113112	C	T	209113112	3	4	14	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-CS-6290-01A-11D-1705-08		209113112	34086261	5	589											
FOXP1	27086	broad.mit.edu	37	3	71096104	71096104	+	Missense_Mutation	SNP	G	G	A			TCGA-CS-6290-01A-11D-1705-08	TCGA-CS-6290-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a31a094-fbeb-44ff-a939-16f71a0ba8d8	e6c5bbe0-666a-406b-bc8f-de3d71f88961	g.chr3:71096104G>A	ENST00000318789.4	-	10	1178	c.653C>T	c.(652-654)cCt>cTt	p.P218L	FOXP1_ENST00000491238.1_Missense_Mutation_p.P220L|FOXP1_ENST00000468577.1_Missense_Mutation_p.P218L|FOXP1_ENST00000472382.1_5'UTR|FOXP1_ENST00000493089.1_Missense_Mutation_p.P218L|FOXP1_ENST00000484350.1_Missense_Mutation_p.P142L|FOXP1_ENST00000475937.1_Missense_Mutation_p.P218L|FOXP1_ENST00000498215.1_Missense_Mutation_p.P218L	NM_001244810.1|NM_001244813.1|NM_032682.5	NP_001231739.1|NP_001231742.1|NP_116071.2	Q9H334	FOXP1_HUMAN	forkhead box P1	218	Gln-rich.				cardiac muscle cell differentiation|embryo development|immunoglobulin V(D)J recombination|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of immunoglobulin production|positive regulation of mesenchymal cell proliferation|pre-B cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|skeletal muscle tissue development|smooth muscle tissue development	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)		TTGAGCAAGAGGTTGAAGGGG	0.502			T	PAX5	ALL								18	281					0	0	0.520397	0	0	A	71096104	G	A	71096104	3	1	14	1	0	0	0	0	1	0	0	0	6060	1000	35	2	1428	2	FOXP1	3	71096104	Missense_Mutation	SNP	G	TCGA-CS-6290-01A-11D-1705-08		71096104	126926326	6	590											
NFKBIZ	64332	broad.mit.edu	37	3	101576203	101576203	+	Missense_Mutation	SNP	C	C	A			TCGA-CS-6290-01A-11D-1705-08	TCGA-CS-6290-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a31a094-fbeb-44ff-a939-16f71a0ba8d8	e6c5bbe0-666a-406b-bc8f-de3d71f88961	g.chr3:101576203C>A	ENST00000326172.5	+	11	2118	c.2003C>A	c.(2002-2004)gCt>gAt	p.A668D	NFKBIZ_ENST00000394054.2_Missense_Mutation_p.A568D|NFKBIZ_ENST00000326151.5_Missense_Mutation_p.A546D	NM_031419.3	NP_113607.1	Q9BYH8	IKBZ_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, zeta	668	Interaction with NFKB1/p50 (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24						CAATTAGATGCTGTCCGCCTG	0.502													5	59					0.014758	0.0155557	0.184627	1	0	A	101576203	C	A	101576203	3	1	14	1	0	0	0	0	1	0	0	0	10430	797	28	4	2045	4	NFKBIZ	3	101576203	Missense_Mutation	SNP	C	TCGA-CS-6290-01A-11D-1705-08	30480099	101576203	96446227	7	591											
SLC33A1	9197	broad.mit.edu	37	3	155571395	155571395	+	Missense_Mutation	SNP	G	G	A			TCGA-CS-6290-01A-11D-1705-08	TCGA-CS-6290-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a31a094-fbeb-44ff-a939-16f71a0ba8d8	e6c5bbe0-666a-406b-bc8f-de3d71f88961	g.chr3:155571395G>A	ENST00000392845.3	-	1	772	c.392C>T	c.(391-393)gCg>gTg	p.A131V	SLC33A1_ENST00000359479.3_Missense_Mutation_p.A131V			O00400	ACATN_HUMAN	solute carrier family 33 (acetyl-CoA transporter), member 1						cell death|transmembrane transport	endoplasmic reticulum membrane|Golgi membrane|integral to plasma membrane|membrane fraction	acetyl-CoA transporter activity			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	22			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			AACGTAGACCGCATCAACCAA	0.438													3	43					0	0	0.115264	0	0	A	155571395	G	A	155571395	3	1	14	1	0	0	0	0	1	0	0	0	14621	1087	38	1	1281	1	SLC33A1	3	155571395	Missense_Mutation	SNP	G	TCGA-CS-6290-01A-11D-1705-08	53995192	155571395	42451035	8	592											
C3orf70	285382	broad.mit.edu	37	3	184870438	184870438	+	Silent	SNP	G	G	A			TCGA-CS-6290-01A-11D-1705-08	TCGA-CS-6290-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a31a094-fbeb-44ff-a939-16f71a0ba8d8	e6c5bbe0-666a-406b-bc8f-de3d71f88961	g.chr3:184870438G>A	ENST00000335012.2	-	1	364	c.174C>T	c.(172-174)tgC>tgT	p.C58C		NM_001025266.1	NP_001020437.1	A6NLC5	CC070_HUMAN	chromosome 3 open reading frame 70	58										breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|urinary_tract(1)	13						CTAGGTGACAGCACCAGTGCA	0.692													2	6					0	0	0.115264	0	0	A	184870438	G	A	184870438	2	1	14	1	0	0	0	0	0	0	0	1	2256	963	34	2		2	C3orf70	3	184870438	Silent	SNP	G	TCGA-CS-6290-01A-11D-1705-08	29299043	184870438	13151992	9	593											
ARHGEF38	54848	broad.mit.edu	37	4	106474027	106474027	+	Missense_Mutation	SNP	C	C	A			TCGA-CS-6290-01A-11D-1705-08	TCGA-CS-6290-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a31a094-fbeb-44ff-a939-16f71a0ba8d8	e6c5bbe0-666a-406b-bc8f-de3d71f88961	g.chr4:106474027C>A	ENST00000420470.2	+	1	249	c.105C>A	c.(103-105)gaC>gaA	p.D35E	ARHGEF38_ENST00000265154.2_Missense_Mutation_p.D35E	NM_001242729.1	NP_001229658.1	Q9NXL2	ARH38_HUMAN	Rho guanine nucleotide exchange factor (GEF) 38	35					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(3)	11						GGAAGACTGACACTGTGGTTG	0.468													3	41					0.115264	0.118297	0.115264	1	0	A	106474027	C	A	106474027	3	1	14	1	0	0	0	0	1	0	0	0	904	477	17	5	107	5	ARHGEF38	4	106474027	Missense_Mutation	SNP	C	TCGA-CS-6290-01A-11D-1705-08		106474027	84680249	10	594											
TDO2	6999	broad.mit.edu	37	4	156831281	156831281	+	Missense_Mutation	SNP	A	A	T			TCGA-CS-6290-01A-11D-1705-08	TCGA-CS-6290-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a31a094-fbeb-44ff-a939-16f71a0ba8d8	e6c5bbe0-666a-406b-bc8f-de3d71f88961	g.chr4:156831281A>T	ENST00000536354.2	+	6	600	c.536A>T	c.(535-537)cAt>cTt	p.H179L		NM_005651.3	NP_005642.1	P48775	T23O_HUMAN	tryptophan 2,3-dioxygenase	179					tryptophan catabolic process to kynurenine	cytosol	tryptophan 2,3-dioxygenase activity			breast(3)|endometrium(1)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	18	all_hematologic(180;0.24)	Renal(120;0.0854)		KIRC - Kidney renal clear cell carcinoma(143;0.0455)|Kidney(143;0.0568)|COAD - Colon adenocarcinoma(41;0.141)	L-Tryptophan(DB00150)	AACAGAAGACATTATCGTGAT	0.373													11	128					0	0	0.411799	0	0	T	156831281	A	T	156831281	3	4	14	1	0	0	0	0	1	0	0	0	15786	217	8	4	558	4	TDO2	4	156831281	Missense_Mutation	SNP	A	TCGA-CS-6290-01A-11D-1705-08	50357254	156831281	34322995	11	595											
ACSL1	2180	broad.mit.edu	37	4	185679015	185679015	+	Missense_Mutation	SNP	C	C	G			TCGA-CS-6290-01A-11D-1705-08	TCGA-CS-6290-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a31a094-fbeb-44ff-a939-16f71a0ba8d8	e6c5bbe0-666a-406b-bc8f-de3d71f88961	g.chr4:185679015C>G	ENST00000515030.1	-	19	2167	c.1842G>C	c.(1840-1842)aaG>aaC	p.K614N	ACSL1_ENST00000513317.1_Missense_Mutation_p.K614N|ACSL1_ENST00000504342.1_Missense_Mutation_p.K614N|ACSL1_ENST00000454703.2_Missense_Mutation_p.K443N|ACSL1_ENST00000281455.2_Missense_Mutation_p.K614N|ACSL1_ENST00000507295.1_Missense_Mutation_p.K580N|ACSL1_ENST00000437665.3_Missense_Mutation_p.K443N			P33121	ACSL1_HUMAN	acyl-CoA synthetase long-chain family member 1	614					digestion|fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|regulation of fatty acid oxidation|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(17)|ovary(2)|prostate(1)|skin(2)	38		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00172)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0315)|all_neural(102;0.107)|Medulloblastoma(177;0.146)		all cancers(43;1.33e-28)|Epithelial(43;5.3e-25)|OV - Ovarian serous cystadenocarcinoma(60;4.88e-11)|Colorectal(24;3.59e-06)|STAD - Stomach adenocarcinoma(60;2.72e-05)|GBM - Glioblastoma multiforme(59;2.83e-05)|BRCA - Breast invasive adenocarcinoma(30;7.66e-05)|COAD - Colon adenocarcinoma(29;0.000538)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.0419)	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	CAAATCCTCTCTTTTGGGCCC	0.408													6	127					0	0	0.307466	0	0	G	185679015	C	G	185679015	3	3	14	1	0	0	0	0	1	0	0	0	177	912	32	4	266	4	ACSL1	4	185679015	Missense_Mutation	SNP	C	TCGA-CS-6290-01A-11D-1705-08	28847734	185679015	5475261	12	596											
OR2B6	26212	broad.mit.edu	37	6	27925799	27925799	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CS-6290-01A-11D-1705-08	TCGA-CS-6290-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a31a094-fbeb-44ff-a939-16f71a0ba8d8	e6c5bbe0-666a-406b-bc8f-de3d71f88961	g.chr6:27925799C>T	ENST00000244623.1	+	1	781	c.781C>T	c.(781-783)Caa>Taa	p.Q261*		NM_012367.1	NP_036499.1	P58173	OR2B6_HUMAN	olfactory receptor, family 2, subfamily B, member 6	261					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TGTGTACCTGCAACCACCTTC	0.448													24	119					0	0	0.639603	0	0	T	27925799	C	T	27925799	4	4	14	1	0	0	0	0	0	1	0	0	11039	711	25	2	783	2	OR2B6	6	27925799	Nonsense_Mutation	SNP	C	TCGA-CS-6290-01A-11D-1705-08		27925799	143189268	13	597											
HSPA1L	3305	broad.mit.edu	37	6	31778479	31778479	+	Missense_Mutation	SNP	G	G	T			TCGA-CS-6290-01A-11D-1705-08	TCGA-CS-6290-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a31a094-fbeb-44ff-a939-16f71a0ba8d8	e6c5bbe0-666a-406b-bc8f-de3d71f88961	g.chr6:31778479G>T	ENST00000375654.4	-	2	1460	c.1271C>A	c.(1270-1272)aCc>aAc	p.T424N	HSPA1L_ENST00000417199.3_Missense_Mutation_p.T424N	NM_005527.3	NP_005518.3	P34931	HS71L_HUMAN	heat shock 70kDa protein 1-like	424				T -> P (in Ref. 1; AAA63228).	response to unfolded protein		ATP binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|pleura(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						TGTCTGCTTGGTGGGGATGGT	0.602													15	116					2.23348e-06	2.63957e-06	0.500413	1	0	T	31778479	G	T	31778479	3	4	14	1	0	0	0	0	1	0	0	0	7453	1261	44	5	658	5	HSPA1L	6	31778479	Missense_Mutation	SNP	G	TCGA-CS-6290-01A-11D-1705-08	3852680	31778479	139336588	14	598											
LGSN	51557	broad.mit.edu	37	6	63990534	63990534	+	Missense_Mutation	SNP	A	A	G			TCGA-CS-6290-01A-11D-1705-08	TCGA-CS-6290-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a31a094-fbeb-44ff-a939-16f71a0ba8d8	e6c5bbe0-666a-406b-bc8f-de3d71f88961	g.chr6:63990534A>G	ENST00000370657.4	-	4	955	c.922T>C	c.(922-924)Ttt>Ctt	p.F308L	LGSN_ENST00000370658.5_Intron			Q5TDP6	LGSN_HUMAN	lengsin, lens protein with glutamine synthetase domain	308					glutamine biosynthetic process		glutamate-ammonia ligase activity			NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34					L-Glutamic Acid(DB00142)	GAATCACAAAATCCAGTCTCA	0.428													10	50					0	0	0.361761	0	0	G	63990534	A	G	63990534	3	3	14	1	0	0	0	0	1	0	0	0	8799	101	4	3	611	3	LGSN	6	63990534	Missense_Mutation	SNP	A	TCGA-CS-6290-01A-11D-1705-08	32212055	63990534	107124533	15	599											
OR5AN1	390195	broad.mit.edu	37	11	59132638	59132638	+	Missense_Mutation	SNP	C	C	A			TCGA-CS-6290-01A-11D-1705-08	TCGA-CS-6290-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a31a094-fbeb-44ff-a939-16f71a0ba8d8	e6c5bbe0-666a-406b-bc8f-de3d71f88961	g.chr11:59132638C>A	ENST00000313940.2	+	1	754	c.707C>A	c.(706-708)tCc>tAc	p.S236Y		NM_001004729.1	NP_001004729.1	Q8NGI8	O5AN1_HUMAN	olfactory receptor, family 5, subfamily AN, member 1	236					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	21						AAAGGCAGGTCCAAGGCATTC	0.423													9	187					0.000673444	0.000750409	0.361761	1	0	A	59132638	C	A	59132638	3	1	14	1	0	0	0	0	1	0	0	0	11190	855	30	5	709	5	OR5AN1	11	59132638	Missense_Mutation	SNP	C	TCGA-CS-6290-01A-11D-1705-08		59132638	75873878	16	600											
OVCH1	341350	broad.mit.edu	37	12	29618094	29618094	+	Missense_Mutation	SNP	C	C	G			TCGA-CS-6290-01A-11D-1705-08	TCGA-CS-6290-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a31a094-fbeb-44ff-a939-16f71a0ba8d8	e6c5bbe0-666a-406b-bc8f-de3d71f88961	g.chr12:29618094C>G	ENST00000318184.5	-	17	1914	c.1915G>C	c.(1915-1917)Gaa>Caa	p.E639Q	OVCH1-AS1_ENST00000551108.1_Intron|OVCH1-AS1_ENST00000549411.1_Intron	NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1	639	Peptidase S1 2.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					TCTGTTGATTCCTTCAGGTTT	0.378													2	5					0	0	0.115264	0	0	G	29618094	C	G	29618094	3	3	14	1	0	0	0	0	1	0	0	0	11370	864	30	5	1537	5	OVCH1	12	29618094	Missense_Mutation	SNP	C	TCGA-CS-6290-01A-11D-1705-08		29618094	104233801	17	601											
OAS2	4939	broad.mit.edu	37	12	113447044	113447044	+	Missense_Mutation	SNP	C	C	T	rs147522268	byFrequency	TCGA-CS-6290-01A-11D-1705-08	TCGA-CS-6290-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a31a094-fbeb-44ff-a939-16f71a0ba8d8	e6c5bbe0-666a-406b-bc8f-de3d71f88961	g.chr12:113447044C>T	ENST00000392583.2	+	10	2255	c.2048C>T	c.(2047-2049)cCg>cTg	p.P683L	OAS2_ENST00000342315.4_Splice_Site_p.P683L|RP1-71H24.1_ENST00000552784.1_RNA	NM_002535.2	NP_002526.2	P29728	OAS2_HUMAN	2'-5'-oligoadenylate synthetase 2, 69/71kDa	683	OAS domain 2.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	endoplasmic reticulum|membrane|microsome|mitochondrion|nucleus	ATP binding|nucleotidyltransferase activity|RNA binding			NS(1)|breast(2)|endometrium(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						TGGAAAGTGCCGGTAAAAGTC	0.458													11	255					0	0	0.411799	0	0	T	113447044	C	T	113447044	3	4	14	1	0	0	0	0	1	0	0	0	10848	666	23	1	2157	1	OAS2	12	113447044	Missense_Mutation	SNP	C	TCGA-CS-6290-01A-11D-1705-08	83828950	113447044	20404851	18	602											
MYH7	4625	broad.mit.edu	37	14	23898270	23898270	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-6290-01A-11D-1705-08	TCGA-CS-6290-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a31a094-fbeb-44ff-a939-16f71a0ba8d8	e6c5bbe0-666a-406b-bc8f-de3d71f88961	g.chr14:23898270C>T	ENST00000355349.3	-	14	1463	c.1301G>A	c.(1300-1302)aGg>aAg	p.R434K		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	434	Myosin head-like.				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		GTTGAACATCCTCTCATACAC	0.542													3	88					0	0	0.150653	0	0	T	23898270	C	T	23898270	3	4	14	1	0	0	0	0	1	0	0	0	10087	681	24	2	4614	2	MYH7	14	23898270	Missense_Mutation	SNP	C	TCGA-CS-6290-01A-11D-1705-08		23898270	83451270	19	603											
TRIP4	9325	broad.mit.edu	37	15	64716294	64716294	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CS-6290-01A-11D-1705-08	TCGA-CS-6290-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a31a094-fbeb-44ff-a939-16f71a0ba8d8	e6c5bbe0-666a-406b-bc8f-de3d71f88961	g.chr15:64716294A>T	ENST00000261884.3	+	10	1483	c.1423A>T	c.(1423-1425)Aaa>Taa	p.K475*		NM_016213.4	NP_057297.2	Q15650	TRIP4_HUMAN	thyroid hormone receptor interactor 4	475					positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	ligand-dependent nuclear receptor binding|transcription coactivator activity|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21						CACAGCTAAAAAACCCTCCCC	0.448													21	43					0	0	0.575678	0	0	T	64716294	A	T	64716294	4	4	14	1	0	0	0	0	0	1	0	0	16619	15	1	5	1461	5	TRIP4	15	64716294	Nonsense_Mutation	SNP	A	TCGA-CS-6290-01A-11D-1705-08		64716294	37815098	20	604											
TP53	7157	broad.mit.edu	37	17	7578394	7578394	+	Missense_Mutation	SNP	T	T	C			TCGA-CS-6290-01A-11D-1705-08	TCGA-CS-6290-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a31a094-fbeb-44ff-a939-16f71a0ba8d8	e6c5bbe0-666a-406b-bc8f-de3d71f88961	g.chr17:7578394T>C	ENST00000420246.2	-	5	668	c.536A>G	c.(535-537)cAt>cGt	p.H179R	TP53_ENST00000359597.4_Missense_Mutation_p.H179R|TP53_ENST00000455263.2_Missense_Mutation_p.H179R|TP53_ENST00000445888.2_Missense_Mutation_p.H179R|TP53_ENST00000269305.4_Missense_Mutation_p.H179R|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000413465.2_Missense_Mutation_p.H179R	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	179	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).|HH -> QS (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.H179R(108)|p.H179L(43)|p.P177_C182delPHHERC(8)|p.0?(8)|p.H47L(4)|p.H86L(4)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H179P(3)|p.H178_S183delHHERCS(3)|p.R175_E180delRCPHHE(3)|p.P177fs*3(2)|p.V173fs*59(2)|p.H86R(2)|p.H47R(2)|p.R174fs*1(2)|p.H179fs*68(1)|p.C176fs*65(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H46_S51delHHERCS(1)|p.H178fs*6(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.H85_S90delHHERCS(1)|p.E171fs*1(1)|p.R174fs*3(1)|p.E171fs*61(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)		GCAGCGCTCATGGTGGGGGCA	0.642		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)			26	18					0	0	0.693898	0	0	C	7578394	T	C	7578394	3	2	14	1	0	0	0	0	1	0	0	0	16442	1464	51	3	762	3	TP53	17	7578394	Missense_Mutation	SNP	T	TCGA-CS-6290-01A-11D-1705-08		7578394	73616816	21	605											
MYH2	4620	broad.mit.edu	37	17	10432154	10432154	+	Missense_Mutation	SNP	C	C	G			TCGA-CS-6290-01A-11D-1705-08	TCGA-CS-6290-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a31a094-fbeb-44ff-a939-16f71a0ba8d8	e6c5bbe0-666a-406b-bc8f-de3d71f88961	g.chr17:10432154C>G	ENST00000245503.5	-	27	3981	c.3597G>C	c.(3595-3597)agG>agC	p.R1199S	MYH2_ENST00000532183.2_Intron|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.R1199S	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1199					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						CATGCTTCTTCCTCAGGGTGG	0.552													5	88					0	0	0.184627	0	0	G	10432154	C	G	10432154	3	3	14	1	0	0	0	0	1	0	0	0	10083	854	30	5	2284	5	MYH2	17	10432154	Missense_Mutation	SNP	C	TCGA-CS-6290-01A-11D-1705-08	2853760	10432154	70763056	22	606											
UNC45B	146862	broad.mit.edu	37	17	33475300	33475300	+	Silent	SNP	G	G	A			TCGA-CS-6290-01A-11D-1705-08	TCGA-CS-6290-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a31a094-fbeb-44ff-a939-16f71a0ba8d8	e6c5bbe0-666a-406b-bc8f-de3d71f88961	g.chr17:33475300G>A	ENST00000268876.5	+	2	115	c.18G>A	c.(16-18)gcG>gcA	p.A6A	UNC45B_ENST00000394570.2_Silent_p.A6A|UNC45B_ENST00000378449.1_Silent_p.A6A|UNC45B_ENST00000591048.1_Silent_p.A6A|UNC45B_ENST00000433649.1_Silent_p.A6A	NM_173167.2	NP_775259.1	Q8IWX7	UN45B_HUMAN	unc-45 homolog B (C. elegans)	6					cell differentiation|muscle organ development	cytosol	binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				AGGTGGAAGCGGTACAGCTGA	0.612													15	32					0	0	0.500413	0	0	A	33475300	G	A	33475300	2	1	14	1	0	0	0	0	0	0	0	1	17049	1103	39	1		1	UNC45B	17	33475300	Silent	SNP	G	TCGA-CS-6290-01A-11D-1705-08	23043146	33475300	47719910	23	607											
XAB2	56949	broad.mit.edu	37	19	7686177	7686177	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-6290-01A-11D-1705-08	TCGA-CS-6290-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a31a094-fbeb-44ff-a939-16f71a0ba8d8	e6c5bbe0-666a-406b-bc8f-de3d71f88961	g.chr19:7686177C>T	ENST00000358368.4	-	13	1661	c.1624G>A	c.(1624-1626)Gag>Aag	p.E542K	XAB2_ENST00000534844.1_Missense_Mutation_p.E539K	NM_020196.2	NP_064581.2	Q9HCS7	SYF1_HUMAN	XPA binding protein 2	542					transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	catalytic step 2 spliceosome|nucleoplasm	protein binding			breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	26						ATGCCGCGCTCGTACGCCTGT	0.607								Direct reversal of damage;Nucleotide excision repair (NER)					11	35					0	0	0.38729	0	0	T	7686177	C	T	7686177	3	4	14	1	0	0	0	0	1	0	0	0	17478	893	31	1	971	1	XAB2	19	7686177	Missense_Mutation	SNP	C	TCGA-CS-6290-01A-11D-1705-08		7686177	51442806	24	608											
PIH1D1	55011	broad.mit.edu	37	19	49954795	49954795	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CS-6290-01A-11D-1705-08	TCGA-CS-6290-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a31a094-fbeb-44ff-a939-16f71a0ba8d8	e6c5bbe0-666a-406b-bc8f-de3d71f88961	g.chr19:49954795C>A	ENST00000262265.5	-	1	272	c.37G>T	c.(37-39)Gag>Tag	p.E13*	PIH1D1_ENST00000596049.1_Nonsense_Mutation_p.E13*	NM_017916.2	NP_060386.1	Q9NWS0	PIHD1_HUMAN	PIH1 domain containing 1	13					box C/D snoRNP assembly	pre-snoRNP complex				NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(5)|urinary_tract(1)	11		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00152)|GBM - Glioblastoma multiforme(486;0.0244)		GCCTCCGCCTCGCTTAGCCCC	0.607													7	34					0.00400662	0.00434051	0.500413	1	0	A	49954795	C	A	49954795	4	1	14	1	0	0	0	0	0	1	0	0	11954	893	31	5	871	5	PIH1D1	19	49954795	Nonsense_Mutation	SNP	C	TCGA-CS-6290-01A-11D-1705-08	42268618	49954795	9174188	25	609											
JAG1	182	broad.mit.edu	37	20	10622192	10622192	+	Silent	SNP	C	C	T			TCGA-CS-6290-01A-11D-1705-08	TCGA-CS-6290-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a31a094-fbeb-44ff-a939-16f71a0ba8d8	e6c5bbe0-666a-406b-bc8f-de3d71f88961	g.chr20:10622192C>T	ENST00000254958.5	-	23	3347	c.2832G>A	c.(2830-2832)gtG>gtA	p.V944V	JAG1_ENST00000423891.2_Silent_p.V785V	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN	jagged 1	944					angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation	extracellular region|integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding|structural molecule activity			biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						ACTTTGTCTTCACCGGCTGGA	0.537									Alagille Syndrome				5	160					0	0	0.217242	0	0	T	10622192	C	T	10622192	2	4	14	1	0	0	0	0	0	0	0	1	7978	813	29	2		2	JAG1	20	10622192	Silent	SNP	C	TCGA-CS-6290-01A-11D-1705-08		10622192	52403328	26	610											
CSRP2BP	57325	broad.mit.edu	37	20	18139760	18139760	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-6290-01A-11D-1705-08	TCGA-CS-6290-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a31a094-fbeb-44ff-a939-16f71a0ba8d8	e6c5bbe0-666a-406b-bc8f-de3d71f88961	g.chr20:18139760C>T	ENST00000435364.3	+	4	874	c.533C>T	c.(532-534)gCa>gTa	p.A178V	CSRP2BP_ENST00000377681.3_Missense_Mutation_p.A178V|CSRP2BP_ENST00000489634.2_Missense_Mutation_p.A50V	NM_020536.4	NP_065397	Q9H8E8	CSR2B_HUMAN	CSRP2 binding protein						histone H3 acetylation	Ada2/Gcn5/Ada3 transcription activator complex|cytoplasm	LIM domain binding|N-acetyltransferase activity			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|stomach(1)	34						AGCACCGTGGCAGGTTGCCTC	0.468													13	34					0	0	0.539581	0	0	T	18139760	C	T	18139760	3	4	14	1	0	0	0	0	1	0	0	0	3993	710	25	2	547	2	CSRP2BP	20	18139760	Missense_Mutation	SNP	C	TCGA-CS-6290-01A-11D-1705-08	7517568	18139760	44885760	27	611											
AJAP1	55966	broad.mit.edu	37	1	4832380	4832380	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr1:4832380C>T	ENST00000378191.4	+	4	1339	c.958C>T	c.(958-960)Cgg>Tgg	p.R320W	AJAP1_ENST00000378190.3_Missense_Mutation_p.R320W	NM_018836.3	NP_061324.1	Q9UKB5	AJAP1_HUMAN	adherens junctions associated protein 1	320	Targeting signals.				cell adhesion	adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane				endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	24	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)		CAGCCACCAGCGGAAGACCAA	0.607													10	60					0	0	0.008291	0	0	T	4832380	C	T	4832380	3	4	15	1	0	0	0	0	1	0	0	0	435	759	27	1	972	1	AJAP1	1	4832380	Missense_Mutation	SNP	C	TCGA-CS-6665-01A-11D-1893-08		4832380	244418241	1	612											
CAMTA1	23261	broad.mit.edu	37	1	7796570	7796570	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr1:7796570C>T	ENST00000303635.7	+	13	3440	c.3233C>T	c.(3232-3234)gCc>gTc	p.A1078V	CAMTA1_ENST00000439411.2_Missense_Mutation_p.A1078V	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	1078					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		CAGGGCTATGCCACCCTAATC	0.592			T	WWTR1	epitheliod hemangioendothelioma								4	97					0	0	0.000602	0	0	T	7796570	C	T	7796570	3	4	15	1	0	0	0	0	1	0	0	0	2631	739	26	2	3283	2	CAMTA1	1	7796570	Missense_Mutation	SNP	C	TCGA-CS-6665-01A-11D-1893-08	2964190	7796570	241454051	2	613											
CLSTN1	22883	broad.mit.edu	37	1	9794036	9794036	+	Missense_Mutation	SNP	A	A	C			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr1:9794036A>C	ENST00000377298.4	-	15	3067	c.2275T>G	c.(2275-2277)Ttc>Gtc	p.F759V	CLSTN1_ENST00000361311.4_Missense_Mutation_p.F749V|CLSTN1_ENST00000377288.3_Missense_Mutation_p.F740V	NM_001009566.1	NP_001009566.1	O94985	CSTN1_HUMAN	calsyntenin 1	759					homophilic cell adhesion	cell junction|cell projection|endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus|postsynaptic membrane	calcium ion binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(9)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	36	all_lung(157;0.222)	all_lung(284;4.03e-05)|Lung NSC(185;6.93e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;8.36e-08)|COAD - Colon adenocarcinoma(227;1.93e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|STAD - Stomach adenocarcinoma(132;0.00644)|READ - Rectum adenocarcinoma(331;0.0419)		TTACCTGTGAAGGTCATGCCC	0.612													16	78					0	0	0.007413	0	0	C	9794036	A	C	9794036	3	2	15	1	0	0	0	0	1	0	0	0	3584	72	3	5	690	5	CLSTN1	1	9794036	Missense_Mutation	SNP	A	TCGA-CS-6665-01A-11D-1893-08	1997466	9794036	239456585	3	614											
TRIT1	54802	broad.mit.edu	37	1	40318536	40318536	+	Missense_Mutation	SNP	C	C	A			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr1:40318536C>A	ENST00000316891.5	-	4	441	c.427G>T	c.(427-429)Ggc>Tgc	p.G143C	TRIT1_ENST00000541099.1_Intron|TRIT1_ENST00000545233.1_Intron|TRIT1_ENST00000372818.1_Missense_Mutation_p.G143C|TRIT1_ENST00000537440.1_Intron|TRIT1_ENST00000537223.1_Intron|TRIT1_ENST00000544981.1_Intron|TRIT1_ENST00000441669.2_Missense_Mutation_p.G63C|TRIT1_ENST00000491865.1_Intron	NM_017646.4	NP_060116.2	Q9H3H1	MOD5_HUMAN	tRNA isopentenyltransferase 1	143					tRNA processing	mitochondrion	ATP binding|metal ion binding|tRNA dimethylallyltransferase activity			breast(1)|large_intestine(5)|liver(1)|lung(3)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(1)	15	all_cancers(7;4.55e-14)|all_lung(5;1.23e-16)|all_epithelial(6;2.17e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;3.29e-18)|Epithelial(16;3.07e-17)|all cancers(16;6.21e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			TTCTCAGTGCCCATCTCCTGG	0.448													5	215					0.00116845	0.0017639	0.001168	1	0	A	40318536	C	A	40318536	3	1	15	1	0	0	0	0	1	0	0	0	16621	623	22	5	1008	5	TRIT1	1	40318536	Missense_Mutation	SNP	C	TCGA-CS-6665-01A-11D-1893-08	30524500	40318536	208932085	4	615											
SEP15	9403	broad.mit.edu	37	1	87369113	87369113	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr1:87369113C>A	ENST00000331835.5	-	2	356	c.94G>T	c.(94-96)Gag>Tag	p.E32*	SEP15_ENST00000469566.1_5'UTR|SEP15_ENST00000370554.1_Nonsense_Mutation_p.E32*|SEP15_ENST00000401030.3_Nonsense_Mutation_p.E32*	NM_004261.3	NP_004252.2	O60613	SEP15_HUMAN							'de novo' posttranslational protein folding	endoplasmic reticulum lumen	selenium binding						Lung NSC(277;0.153)		all cancers(265;0.00744)|Epithelial(280;0.0333)		GATGAAAACTCTGCCCCAAAA	0.418													11	19					2.68362e-12	4.38884e-12	0.013537	1	0	A	87369113	C	A	87369113	4	1	15	1	0	0	0	0	0	1	0	0	14107	922	32	4	410	4	SEP15	1	87369113	Nonsense_Mutation	SNP	C	TCGA-CS-6665-01A-11D-1893-08	47050577	87369113	161881508	5	616											
SPRR2G	6706	broad.mit.edu	37	1	153122438	153122438	+	Missense_Mutation	SNP	G	G	A			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr1:153122438G>A	ENST00000368748.4	-	2	187	c.149C>T	c.(148-150)cCa>cTa	p.P50L		NM_001014291.3	NP_001014313.1	Q9BYE4	SPR2G_HUMAN	small proline-rich protein 2G	50					keratinization	cornified envelope|cytoplasm				endometrium(1)|lung(1)|skin(1)	3	all_lung(78;1.78e-30)|Lung NSC(65;7.29e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			ATCCTGGCATGGTGGAGGTGG	0.567													23	111					0	0	0.00278	0	0	A	153122438	G	A	153122438	3	1	15	1	0	0	0	0	1	0	0	0	15158	1348	47	2	76	2	SPRR2G	1	153122438	Missense_Mutation	SNP	G	TCGA-CS-6665-01A-11D-1893-08	65753325	153122438	96128183	6	617											
ADAR	103	broad.mit.edu	37	1	154560602	154560602	+	Splice_Site	SNP	G	G	A	rs151241634	byFrequency	TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr1:154560602G>A	ENST00000368474.4	-	11	3217	c.3018C>T	c.(3016-3018)aaC>aaT	p.N1006N	ADAR_ENST00000292205.5_Splice_Site_p.N1049N|ADAR_ENST00000368471.3_Splice_Site_p.N711N	NM_001111.4|NM_015840.3|NM_015841.3	NP_001102|NP_056655.2|NP_056656.2	P55265	DSRAD_HUMAN	adenosine deaminase, RNA-specific	1006	A to I editase.				adenosine to inosine editing|gene silencing by RNA|mRNA modification|mRNA processing|type I interferon-mediated signaling pathway	cytoplasm|nucleolus|nucleoplasm	DNA binding|double-stranded RNA adenosine deaminase activity|metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)		ATCACTCACCGTTCTCCACCT	0.537													10	402					0	0	0.008291	0	0	A	154560602	G	A	154560602	5	1	15	1	0	0	0	0	0	0	1	0	280	1159	40	1	682	1	ADAR	1	154560602	Splice_Site	SNP	G	TCGA-CS-6665-01A-11D-1893-08	1438164	154560602	94690019	7	618											
CD244	51744	broad.mit.edu	37	1	160811431	160811431	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr1:160811431C>A	ENST00000368034.4	-	2	499	c.322G>T	c.(322-324)Gag>Tag	p.E108*	CD244_ENST00000368032.2_Nonsense_Mutation_p.E108*|CD244_ENST00000322302.7_Nonsense_Mutation_p.E108*|CD244_ENST00000368033.3_Nonsense_Mutation_p.E108*	NM_001166663.1|NM_001166664.1|NM_016382.3	NP_001160135.1|NP_001160136.1|NP_057466.1	Q9BZW8	CD244_HUMAN	CD244 molecule, natural killer cell receptor 2B4	108	Ig-like 1.				blood coagulation|leukocyte migration	integral to membrane|plasma membrane	protein binding|receptor activity			central_nervous_system(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1)	18	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			CTGGTGACCTCCAGGCAGTAG	0.453													22	90					4.26978e-12	6.91088e-12	0.00333	1	0	A	160811431	C	A	160811431	4	1	15	1	0	0	0	0	0	1	0	0	3009	864	30	5	822	5	CD244	1	160811431	Nonsense_Mutation	SNP	C	TCGA-CS-6665-01A-11D-1893-08	6250829	160811431	88439190	8	619											
RXRG	6258	broad.mit.edu	37	1	165398112	165398112	+	Missense_Mutation	SNP	A	A	C			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr1:165398112A>C	ENST00000359842.5	-	2	443	c.141T>G	c.(139-141)gaT>gaG	p.D47E		NM_001256570.1|NM_006917.4	NP_001243499.1|NP_008848.1	P48443	RXRG_HUMAN	retinoid X receptor, gamma	47	Modulating (By similarity).				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			endometrium(1)|kidney(3)|large_intestine(6)|lung(22)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	38	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)				Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tretinoin(DB00755)	TCACTGGGGTATCTGTGTAGC	0.607													5	63					0	0	0.000602	0	0	C	165398112	A	C	165398112	3	2	15	1	0	0	0	0	1	0	0	0	13817	446	16	4	1286	4	RXRG	1	165398112	Missense_Mutation	SNP	A	TCGA-CS-6665-01A-11D-1893-08	4586681	165398112	83852509	9	620											
SELE	6401	broad.mit.edu	37	1	169697059	169697059	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr1:169697059C>T	ENST00000333360.7	-	9	1428	c.1289G>A	c.(1288-1290)tGc>tAc	p.C430Y	SELE_ENST00000367775.1_Missense_Mutation_p.C305Y|SELE_ENST00000367779.4_Intron|SELE_ENST00000367776.1_Missense_Mutation_p.C367Y|SELE_ENST00000367781.4_Missense_Mutation_p.C367Y|C1orf112_ENST00000498289.1_Intron|SELE_ENST00000367780.4_Missense_Mutation_p.C305Y|SELE_ENST00000367777.1_Intron|SELE_ENST00000367782.4_Intron|SELE_ENST00000367774.1_Intron	NM_000450.2	NP_000441.2	P16581	LYAM2_HUMAN	selectin E	430	Sushi 5.				actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	all_hematologic(923;0.208)					GACAGCATCGCATCTCACAGC	0.498													29	121					0	0	0.010818	0	0	T	169697059	C	T	169697059	3	4	15	1	0	0	0	0	1	0	0	0	14067	710	25	2	563	2	SELE	1	169697059	Missense_Mutation	SNP	C	TCGA-CS-6665-01A-11D-1893-08	4298947	169697059	79553562	10	621											
EDEM3	80267	broad.mit.edu	37	1	184695449	184695449	+	Silent	SNP	T	T	C			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr1:184695449T>C	ENST00000318130.8	-	7	953	c.687A>G	c.(685-687)gcA>gcG	p.A229A	EDEM3_ENST00000367512.3_Silent_p.A186A	NM_025191.3	NP_079467.3	Q9BZQ6	EDEM3_HUMAN	ER degradation enhancer, mannosidase alpha-like 3	229					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						TCAAGGTACCTGCACAAGCTG	0.388													11	57					0	0	0.003163	0	0	C	184695449	T	C	184695449	2	2	15	1	0	0	0	0	0	0	0	1	4939	1567	55	3		3	EDEM3	1	184695449	Silent	SNP	T	TCGA-CS-6665-01A-11D-1893-08	14998390	184695449	64555172	11	622											
OBSCN	84033	broad.mit.edu	37	1	228404888	228404888	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr1:228404888C>T	ENST00000570156.2	+	8	2626	c.2552C>T	c.(2551-2553)aCg>aTg	p.T851M	OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000422127.1_Missense_Mutation_p.T851M|OBSCN_ENST00000284548.11_Missense_Mutation_p.T851M|OBSCN_ENST00000366709.4_5'UTR	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	851	Ig-like 8.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GATGTGGGGACGCGGCACCGG	0.652													14	106					0	0	0.004007	0	0	T	228404888	C	T	228404888	3	4	15	1	0	0	0	0	1	0	0	0	10860	536	19	1	2578	1	OBSCN	1	228404888	Missense_Mutation	SNP	C	TCGA-CS-6665-01A-11D-1893-08	43709439	228404888	20845733	12	623											
GPR137B	7107	broad.mit.edu	37	1	236341829	236341829	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr1:236341829C>T	ENST00000366592.3	+	3	671	c.580C>T	c.(580-582)Cga>Tga	p.R194*	GPR137B_ENST00000366591.4_Intron	NM_003272.3	NP_003263.1	O60478	G137B_HUMAN	G protein-coupled receptor 137B	194						integral to plasma membrane|membrane fraction				endometrium(2)|large_intestine(1)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.197)|Prostate(94;0.219)|Acute lymphoblastic leukemia(190;0.226)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)			CGTCTCTGTGCGAGTGGCCAT	0.478													58	164					0	0	0.01441	0	0	T	236341829	C	T	236341829	4	4	15	1	0	0	0	0	0	1	0	0	6686	760	27	1	590	1	GPR137B	1	236341829	Nonsense_Mutation	SNP	C	TCGA-CS-6665-01A-11D-1893-08	7936941	236341829	12908792	13	624											
RYR2	6262	broad.mit.edu	37	1	237804239	237804239	+	Missense_Mutation	SNP	C	C	G			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr1:237804239C>G	ENST00000366574.2	+	47	7475	c.7158C>G	c.(7156-7158)aaC>aaG	p.N2386K	RYR2_ENST00000360064.6_Missense_Mutation_p.N2384K|RYR2_ENST00000542537.1_Missense_Mutation_p.N2370K	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2386	4 X approximate repeats.		N -> I (in ARVD2 and CPVT1).		cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			ACATGGGGAACGCGATCATGA	0.443													6	39					0	0	0.00308	0	0	G	237804239	C	G	237804239	3	3	15	1	0	0	0	0	1	0	0	0	13821	535	19	5	7344	5	RYR2	1	237804239	Missense_Mutation	SNP	C	TCGA-CS-6665-01A-11D-1893-08	1462410	237804239	11446382	14	625											
BCL11A	53335	broad.mit.edu	37	2	60679728	60679728	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr2:60679728C>T	ENST00000538214.1	-	4	2488	c.2354G>A	c.(2353-2355)cGa>cAa	p.R785Q	BCL11A_ENST00000359629.5_Missense_Mutation_p.R235Q|BCL11A_ENST00000537768.1_Silent_p.S437S|BCL11A_ENST00000356842.4_Silent_p.S768S			Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)	0					negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			TAAGGGCTCTCGAGCTTCCAT	0.557			T	IGH@	B-CLL								34	105					0	0	0.003755	0	0	T	60679728	C	T	60679728	3	4	15	1	0	0	0	0	1	0	0	0	1361	884	31	1	31	1	BCL11A	2	60679728	Missense_Mutation	SNP	C	TCGA-CS-6665-01A-11D-1893-08		60679728	182519645	15	626											
RND3	390	broad.mit.edu	37	2	151326607	151326607	+	Missense_Mutation	SNP	G	G	A			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr2:151326607G>A	ENST00000375734.2	-	5	878	c.629C>T	c.(628-630)tCa>tTa	p.S210L	RND3_ENST00000409557.1_Missense_Mutation_p.S81L|RND3_ENST00000263895.4_Missense_Mutation_p.S210L	NM_001254738.1	NP_001241667.1	P61587	RND3_HUMAN	Rho family GTPase 3	210					actin cytoskeleton organization|cell adhesion|small GTPase mediated signal transduction	Golgi membrane	GTP binding|GTPase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.106)		GGCTCTCTGTGATTTGTTCCG	0.458													31	108					0	0	0.010818	0	0	A	151326607	G	A	151326607	3	1	15	1	0	0	0	0	1	0	0	0	13473	1294	45	2	109	2	RND3	2	151326607	Missense_Mutation	SNP	G	TCGA-CS-6665-01A-11D-1893-08	90646879	151326607	91872766	16	627											
ZDBF2	57683	broad.mit.edu	37	2	207169761	207169761	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr2:207169761C>T	ENST00000374423.3	+	5	895	c.509C>T	c.(508-510)gCt>gTt	p.A170V		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	170							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						ATTGGTCAGGCTACAAATAAT	0.423													10	36					0	0	0.006214	0	0	T	207169761	C	T	207169761	3	4	15	1	0	0	0	0	1	0	0	0	17657	797	28	2	519	2	ZDBF2	2	207169761	Missense_Mutation	SNP	C	TCGA-CS-6665-01A-11D-1893-08	55843154	207169761	36029612	17	628											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	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	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								15	61					0	0	0.00499	0	0	T	209113112	C	T	209113112	3	4	15	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-CS-6665-01A-11D-1893-08	1943351	209113112	34086261	18	629											
SP100	6672	broad.mit.edu	37	2	231367785	231367785	+	Silent	SNP	A	A	G			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr2:231367785A>G	ENST00000264052.5	+	20	2080	c.1725A>G	c.(1723-1725)agA>agG	p.R575R	SP100_ENST00000340126.4_Silent_p.R575R|SP100_ENST00000409112.1_Silent_p.R575R	NM_003113.3	NP_003104.2	P23497	SP100_HUMAN	SP100 nuclear antigen	575					DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|interspecies interaction between organisms|negative regulation of cellular component movement|negative regulation of DNA binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of viral transcription|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to cytokine stimulus|response to retinoic acid|response to type I interferon	cytoplasm|nuclear periphery|nucleolus|PML body	chromo shadow domain binding|DNA binding|identical protein binding|kinase binding|protein homodimerization activity|transcription coactivator activity|transcription corepressor activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1)	25		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		TCTCAGGAAGAAAAGCCAACA	0.289													18	82					0	0	0.008871	0	0	G	231367785	A	G	231367785	2	3	15	1	0	0	0	0	0	0	0	1	15014	243	9	3		3	SP100	2	231367785	Silent	SNP	A	TCGA-CS-6665-01A-11D-1893-08	22254673	231367785	11831588	19	630											
BSN	8927	broad.mit.edu	37	3	49691512	49691512	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr3:49691512C>T	ENST00000296452.4	+	5	4637	c.4523C>T	c.(4522-4524)aCg>aTg	p.T1508M		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	1508					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		TCTACACAGACGCCAAGTCCA	0.622													11	67					0	0	0.008291	0	0	T	49691512	C	T	49691512	3	4	15	1	0	0	0	0	1	0	0	0	1532	536	19	1	4541	1	BSN	3	49691512	Missense_Mutation	SNP	C	TCGA-CS-6665-01A-11D-1893-08		49691512	148330918	20	631											
BSN	8927	broad.mit.edu	37	3	49694614	49694614	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr3:49694614C>T	ENST00000296452.4	+	5	7739	c.7625C>T	c.(7624-7626)aCg>aTg	p.T2542M		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	2542					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		TCACTGCAAACGGAGGAGCAG	0.632													14	40					0	0	0.001855	0	0	T	49694614	C	T	49694614	3	4	15	1	0	0	0	0	1	0	0	0	1532	536	19	1	7643	1	BSN	3	49694614	Missense_Mutation	SNP	C	TCGA-CS-6665-01A-11D-1893-08	3102	49694614	148327816	21	632											
CISH	1154	broad.mit.edu	37	3	50645154	50645154	+	Missense_Mutation	SNP	G	G	A			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr3:50645154G>A	ENST00000443053.2	-	4	939	c.712C>T	c.(712-714)Cgc>Tgc	p.R238C	CISH_ENST00000348721.3_Missense_Mutation_p.R221C	NM_013324.5	NP_037456.5	Q9NSE2	CISH_HUMAN	cytokine inducible SH2-containing protein	221	SOCS box.				intracellular signal transduction|negative regulation of signal transduction|regulation of cell growth	intracellular				breast(2)|lung(1)|stomach(1)|upper_aerodigestive_tract(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)		TGCAGGCTGCGGGCACTGCTT	0.622													23	97					0	0	0.00333	0	0	A	50645154	G	A	50645154	3	1	15	1	0	0	0	0	1	0	0	0	3460	1116	39	1	119	1	CISH	3	50645154	Missense_Mutation	SNP	G	TCGA-CS-6665-01A-11D-1893-08	950540	50645154	147377276	22	633											
CACNA2D3	55799	broad.mit.edu	37	3	54596855	54596855	+	Missense_Mutation	SNP	G	G	T			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr3:54596855G>T	ENST00000474759.1	+	6	621	c.573G>T	c.(571-573)tgG>tgT	p.W191C	CACNA2D3_ENST00000415676.2_Missense_Mutation_p.W191C|CACNA2D3_ENST00000288197.5_Missense_Mutation_p.W191C|CACNA2D3_ENST00000490478.1_Missense_Mutation_p.W97C	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3	191						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		GGGTTTATTGGTCTGAATCTC	0.403													10	38					1.76689e-08	2.74656e-08	0.006214	1	0	T	54596855	G	T	54596855	3	4	15	1	0	0	0	0	1	0	0	0	2568	1270	44	5	595	5	CACNA2D3	3	54596855	Missense_Mutation	SNP	G	TCGA-CS-6665-01A-11D-1893-08	3951701	54596855	143425575	23	634											
SEL1L3	23231	broad.mit.edu	37	4	25849135	25849135	+	Missense_Mutation	SNP	T	T	C			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr4:25849135T>C	ENST00000399878.3	-	2	636	c.514A>G	c.(514-516)Ata>Gta	p.I172V	SEL1L3_ENST00000502949.1_Missense_Mutation_p.I19V|SEL1L3_ENST00000513364.1_Intron|SEL1L3_ENST00000264868.5_Missense_Mutation_p.I137V	NM_015187.3	NP_056002.2	Q68CR1	SE1L3_HUMAN	sel-1 suppressor of lin-12-like 3 (C. elegans)	172						integral to membrane	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						GCGCGTACTATCACTGCAGAT	0.408													9	65					0	0	0.004482	0	0	C	25849135	T	C	25849135	3	2	15	1	0	0	0	0	1	0	0	0	14066	1435	50	3	2976	3	SEL1L3	4	25849135	Missense_Mutation	SNP	T	TCGA-CS-6665-01A-11D-1893-08		25849135	165305141	24	635											
PDGFRA	5156	broad.mit.edu	37	4	55151636	55151636	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr4:55151636delT	ENST00000257290.5	+	17	2753	c.2422delT	c.(2422-2424)tttfs	p.F808fs	FIP1L1_ENST00000507166.1_Frame_Shift_Del_p.F568fs	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	808	Protein kinase.				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity	p.F808L(1)		NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	AGGAATGGAGTTTTTGGCTTC	0.418			"Mis, O, T"	FIP1L1	"GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			9	2168	---	---	---	---						-	55151636	T	-	55151636	7	5	15	1	0	1	0	1	0	0	0	0	11708	1725	60	0	2484	0	PDGFRA	4	55151636	Frame_Shift_Del	DEL	T	TCGA-CS-6665-01A-11D-1893-08	29302501	55151636	136002640	25	636											
CLOCK	9575	broad.mit.edu	37	4	56304530	56304532	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr4:56304530_56304532delCTG	ENST00000309964.4	-	21	2528_2530	c.2278_2280delCAG	c.(2278-2280)cagdel	p.Q760del	CLOCK_ENST00000513440.1_In_Frame_Del_p.Q760del|CLOCK_ENST00000381322.1_In_Frame_Del_p.Q760del	NM_004898.3	NP_004889.1	O15516	CLOCK_HUMAN	clock circadian regulator	760	Gln-rich.				circadian rhythm|photoperiodism|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|transcription factor complex	DNA binding|histone acetyltransferase activity|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(8)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107)			cctgggagctctgctgctgctgc	0.512													8	603	---	---	---	---						-	56304532	CTG	-	56304530	7	5	15	1	0	1	0	1	0	0	0	0	3572	912	32	0	268	0	CLOCK	4	56304530	In_Frame_Del	DEL	CTG	TCGA-CS-6665-01A-11D-1893-08	1152894	56304530	134849746	26	637											
ADAMTS3	9508	broad.mit.edu	37	4	73188757	73188757	+	Missense_Mutation	SNP	G	G	A			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr4:73188757G>A	ENST00000286657.4	-	6	955	c.919C>T	c.(919-921)Cgc>Tgc	p.R307C	RP11-373J21.1_ENST00000503918.1_RNA	NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	307	Peptidase M12B.				collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			ATTATCATGCGCACCAGGACC	0.363													7	317					0	0	0.004482	0	0	A	73188757	G	A	73188757	3	1	15	1	0	0	0	0	1	0	0	0	266	1087	38	1	2766	1	ADAMTS3	4	73188757	Missense_Mutation	SNP	G	TCGA-CS-6665-01A-11D-1893-08	16884227	73188757	117965519	27	638											
SHROOM3	57619	broad.mit.edu	37	4	77661578	77661578	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr4:77661578C>T	ENST00000296043.6	+	5	3205	c.2252C>T	c.(2251-2253)cCg>cTg	p.P751L		NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	751					apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			CCCTCGCACCCGCACACATCC	0.692													5	32					0	0	0.001168	0	0	T	77661578	C	T	77661578	3	4	15	1	0	0	0	0	1	0	0	0	14350	652	23	1	2270	1	SHROOM3	4	77661578	Missense_Mutation	SNP	C	TCGA-CS-6665-01A-11D-1893-08	4472821	77661578	113492698	28	639											
FRAS1	80144	broad.mit.edu	37	4	79400621	79400621	+	Missense_Mutation	SNP	T	T	G			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr4:79400621T>G	ENST00000264895.6	+	56	8632	c.8192T>G	c.(8191-8193)tTt>tGt	p.F2731C		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	2726	Calx-beta 2.				cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						GGCTCTGATTTTAAATCTAGA	0.463													15	39					0	0	0.00245	0	0	G	79400621	T	G	79400621	3	3	15	1	0	0	0	0	1	0	0	0	6076	1841	64	5	8489	5	FRAS1	4	79400621	Missense_Mutation	SNP	T	TCGA-CS-6665-01A-11D-1893-08	1739043	79400621	111753655	29	640											
USP53	54532	broad.mit.edu	37	4	120214081	120214081	+	Missense_Mutation	SNP	T	T	A			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr4:120214081T>A	ENST00000450251.1	+	15	3481	c.2937T>A	c.(2935-2937)gaT>gaA	p.D979E	USP53_ENST00000274030.6_Missense_Mutation_p.D979E			Q70EK8	UBP53_HUMAN	ubiquitin specific peptidase 53	979					ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	27						ATATGAATGATGAAAGACATA	0.393													9	49					0	0	0.004482	0	0	A	120214081	T	A	120214081	3	1	15	1	0	0	0	0	1	0	0	0	17144	1461	51	4	2995	4	USP53	4	120214081	Missense_Mutation	SNP	T	TCGA-CS-6665-01A-11D-1893-08	40813460	120214081	70940195	30	641											
PRDM5	11107	broad.mit.edu	37	4	121698363	121698363	+	Missense_Mutation	SNP	A	A	C			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr4:121698363A>C	ENST00000264808.3	-	13	1757	c.1517T>G	c.(1516-1518)gTt>gGt	p.V506G	PRDM5_ENST00000515109.1_Missense_Mutation_p.V475G|PRDM5_ENST00000428209.2_Missense_Mutation_p.V475G	NM_018699.2	NP_061169.2	Q9NQX1	PRDM5_HUMAN	PR domain containing 5	506					histone deacetylation|histone H3-K9 methylation|mitotic cell cycle|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	repressing transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(17)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						CCGGATATGAACTCTGAGTGT	0.383													32	129					0	0	0.003271	0	0	C	121698363	A	C	121698363	3	2	15	1	0	0	0	0	1	0	0	0	12512	43	2	5	391	5	PRDM5	4	121698363	Missense_Mutation	SNP	A	TCGA-CS-6665-01A-11D-1893-08	1484282	121698363	69455913	31	642											
GMDS	2762	broad.mit.edu	37	6	1726688	1726688	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr6:1726688C>T	ENST00000380815.4	-	9	1218	c.949G>A	c.(949-951)Gtg>Atg	p.V317M	GMDS_ENST00000530927.1_Missense_Mutation_p.V287M	NM_001500.3	NP_001491.1	O60547	GMDS_HUMAN	GDP-mannose 4,6-dehydratase	317					'de novo' GDP-L-fucose biosynthetic process|GDP-mannose metabolic process|leukocyte cell-cell adhesion		coenzyme binding|GDP-mannose 4,6-dehydratase activity		GMDS/PDE8B(2)	breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|prostate(1)	21	Ovarian(93;0.0733)	all_cancers(2;7.64e-19)|all_epithelial(2;3.05e-16)|Colorectal(2;0.00414)|all_hematologic(90;0.00997)|all_lung(73;0.0141)|Lung NSC(90;0.0802)		Epithelial(2;7.61e-06)|all cancers(2;0.000111)|STAD - Stomach adenocarcinoma(2;0.000231)|Colorectal(2;0.00445)|COAD - Colon adenocarcinoma(2;0.0125)|OV - Ovarian serous cystadenocarcinoma(45;0.0563)		TCCACAGTCACGTGAACTTTG	0.507													30	160					0	0	0.003271	0	0	T	1726688	C	T	1726688	3	4	15	1	0	0	0	0	1	0	0	0	6528	536	19	1	181	1	GMDS	6	1726688	Missense_Mutation	SNP	C	TCGA-CS-6665-01A-11D-1893-08		1726688	169388379	32	643											
TNXB	7148	broad.mit.edu	37	6	32049264	32049264	+	Missense_Mutation	SNP	G	G	A			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr6:32049264G>A	ENST00000375244.3	-	10	4124	c.3923C>T	c.(3922-3924)gCg>gTg	p.A1308V	TNXB_ENST00000375247.2_Missense_Mutation_p.A1308V			P22105	TENX_HUMAN	tenascin XB	1395	Fibronectin type-III 5.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CTCATCCCCCGCAACAGGCAC	0.617													4	18					0	0	0.000602	0	0	A	32049264	G	A	32049264	3	1	15	1	0	0	0	0	1	0	0	0	16406	1087	38	1	10930	1	TNXB	6	32049264	Missense_Mutation	SNP	G	TCGA-CS-6665-01A-11D-1893-08	30322576	32049264	139065803	33	644											
GPR116	221395	broad.mit.edu	37	6	46826760	46826760	+	Silent	SNP	C	C	T			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr6:46826760C>T	ENST00000283296.7	-	17	3168	c.2880G>A	c.(2878-2880)agG>agA	p.R960R	GPR116_ENST00000265417.7_Silent_p.R960R|GPR116_ENST00000545669.1_Silent_p.R389R|GPR116_ENST00000456426.2_Silent_p.R818R|GPR116_ENST00000362015.4_Silent_p.R960R	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	960	GPS.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			TGTTGGCAAGCCTGAAGTTCC	0.478													16	97					0	0	0.004007	0	0	T	46826760	C	T	46826760	2	4	15	1	0	0	0	0	0	0	0	1	6673	738	26	2		2	GPR116	6	46826760	Silent	SNP	C	TCGA-CS-6665-01A-11D-1893-08	14777496	46826760	124288307	34	645											
RIMS1	22999	broad.mit.edu	37	6	72889453	72889453	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr6:72889453C>T	ENST00000264839.7	+	5	647	c.647C>T	c.(646-648)tCg>tTg	p.S216L	RIMS1_ENST00000348717.5_Missense_Mutation_p.S216L|RIMS1_ENST00000520567.1_Missense_Mutation_p.S216L|RIMS1_ENST00000517960.1_Missense_Mutation_p.S216L|RIMS1_ENST00000518273.1_Missense_Mutation_p.S216L|RIMS1_ENST00000521978.1_Missense_Mutation_p.S216L|RIMS1_ENST00000522291.1_Missense_Mutation_p.S216L|RIMS1_ENST00000491071.2_Missense_Mutation_p.S216L			Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	216					calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				CAAGAGCGATCGCGGTCTCAG	0.597													5	150					0	0	0.001168	0	0	T	72889453	C	T	72889453	3	4	15	1	0	0	0	0	1	0	0	0	13419	893	31	1	665	1	RIMS1	6	72889453	Missense_Mutation	SNP	C	TCGA-CS-6665-01A-11D-1893-08	26062693	72889453	98225614	35	646											
NT5E	4907	broad.mit.edu	37	6	86203685	86203685	+	Missense_Mutation	SNP	T	T	C			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr6:86203685T>C	ENST00000257770.3	+	9	1737	c.1688T>C	c.(1687-1689)cTt>cCt	p.L563P	NT5E_ENST00000369651.3_Missense_Mutation_p.L513P	NM_002526.3	NP_002517.1	P21589	5NTD_HUMAN	5'-nucleotidase, ecto (CD73)	563					DNA metabolic process|purine base metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	anchored to membrane|cytoplasm|membrane fraction|plasma membrane	5'-nucleotidase activity|nucleotide binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(76;0.000215)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0427)		BRCA - Breast invasive adenocarcinoma(108;0.0417)	Pentoxifylline(DB00806)	TTAATATTTCTTTCACTTTGG	0.353													12	90					0	0	0.001855	0	0	C	86203685	T	C	86203685	3	2	15	1	0	0	0	0	1	0	0	0	10741	1609	56	3	1722	3	NT5E	6	86203685	Missense_Mutation	SNP	T	TCGA-CS-6665-01A-11D-1893-08	13314232	86203685	84911382	36	647											
HTR1E	3354	broad.mit.edu	37	6	87725427	87725427	+	Silent	SNP	C	C	A			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr6:87725427C>A	ENST00000305344.5	+	2	1078	c.375C>A	c.(373-375)acC>acA	p.T125T		NM_000865.2	NP_000856.1	P28566	5HT1E_HUMAN	5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled						G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	protein binding|serotonin binding|serotonin receptor activity			breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)		BRCA - Breast invasive adenocarcinoma(108;0.055)	Eletriptan(DB00216)	GGGCCATCACCAATGCTATTG	0.562													17	127					1.67942e-08	2.63668e-08	0.006122	1	0	A	87725427	C	A	87725427	2	1	15	1	0	0	0	0	0	0	0	1	7483	581	21	5		5	HTR1E	6	87725427	Silent	SNP	C	TCGA-CS-6665-01A-11D-1893-08	1521742	87725427	83389640	37	648											
RNGTT	8732	broad.mit.edu	37	6	89563379	89563379	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr6:89563379C>T	ENST00000369485.4	-	9	1187	c.1001G>A	c.(1000-1002)cGt>cAt	p.R334H	RNGTT_ENST00000265607.6_Missense_Mutation_p.R334H|RNGTT_ENST00000538899.1_Missense_Mutation_p.R274H|RNGTT_ENST00000369475.3_Missense_Mutation_p.R334H	NM_003800.3	NP_003791.3	O60942	MCE1_HUMAN	RNA guanylyltransferase and 5'-phosphatase	334	GTase.				interspecies interaction between organisms|mRNA capping|transcription from RNA polymerase II promoter|viral reproduction	nucleoplasm	GTP binding|mRNA guanylyltransferase activity|polynucleotide 5'-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	21		all_cancers(76;4.07e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;6.86e-05)		BRCA - Breast invasive adenocarcinoma(108;0.151)		TAAATGCATACGAAGATCTTT	0.289													12	90					0	0	0.013537	0	0	T	89563379	C	T	89563379	3	4	15	1	0	0	0	0	1	0	0	0	13555	536	19	1	824	1	RNGTT	6	89563379	Missense_Mutation	SNP	C	TCGA-CS-6665-01A-11D-1893-08	1837952	89563379	81551688	38	649											
SMPD2	6610	broad.mit.edu	37	6	109764076	109764076	+	Missense_Mutation	SNP	C	C	T	rs139839878		TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr6:109764076C>T	ENST00000258052.3	+	7	972	c.613C>T	c.(613-615)Cgg>Tgg	p.R205W		NM_003080.2	NP_003071.2	O60906	NSMA_HUMAN	sphingomyelin phosphodiesterase 2, neutral membrane (neutral sphingomyelinase)	205					induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|sphingomyelin metabolic process	integral to plasma membrane	metal ion binding|sphingomyelin phosphodiesterase activity			endometrium(2)|lung(3)|stomach(1)|upper_aerodigestive_tract(2)	8		all_cancers(87;1.1e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000144)|all_lung(197;0.0221)|Colorectal(196;0.0488)|Lung SC(18;0.0548)		Epithelial(106;0.0137)|all cancers(137;0.0188)|OV - Ovarian serous cystadenocarcinoma(136;0.0228)|BRCA - Breast invasive adenocarcinoma(108;0.0566)		TCTTGAAACTCGGGACTTCAA	0.542													10	137					0	0	0.006214	0	0	T	109764076	C	T	109764076	3	4	15	1	0	0	0	0	1	0	0	0	14859	875	31	1	639	1	SMPD2	6	109764076	Missense_Mutation	SNP	C	TCGA-CS-6665-01A-11D-1893-08	20200697	109764076	61350991	39	650											
TMEM200A	114801	broad.mit.edu	37	6	130761742	130761742	+	Missense_Mutation	SNP	T	T	C			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr6:130761742T>C	ENST00000392429.1	+	2	2553	c.175T>C	c.(175-177)Tcc>Ccc	p.S59P	TMEM200A_ENST00000296978.3_Missense_Mutation_p.S59P|TMEM200A_ENST00000545622.1_Missense_Mutation_p.S59P	NM_052913.2	NP_443145.1	Q86VY9	T200A_HUMAN	transmembrane protein 200A	59						integral to membrane				NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		CCGGCTTTATTCCCCATCTGG	0.478													60	86					0	0	0.01441	0	0	C	130761742	T	C	130761742	3	2	15	1	0	0	0	0	1	0	0	0	16183	1783	62	3	177	3	TMEM200A	6	130761742	Missense_Mutation	SNP	T	TCGA-CS-6665-01A-11D-1893-08	20997666	130761742	40353325	40	651											
ZNF479	90827	broad.mit.edu	37	7	57187713	57187713	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr7:57187713C>T	ENST00000331162.4	-	5	1679	c.1409G>A	c.(1408-1410)tGt>tAt	p.C470Y		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	470					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			GGCTTTGCCACATTCTTCACA	0.408													21	77					0	0	0.003954	0	0	T	57187713	C	T	57187713	3	4	15	1	0	0	0	0	1	0	0	0	17990	478	17	2	169	2	ZNF479	7	57187713	Missense_Mutation	SNP	C	TCGA-CS-6665-01A-11D-1893-08		57187713	101950950	41	652											
FOXP2	93986	broad.mit.edu	37	7	114282537	114282537	+	Missense_Mutation	SNP	G	G	A			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr7:114282537G>A	ENST00000393500.3	+	13	1443	c.623G>A	c.(622-624)gGc>gAc	p.G208D	FOXP2_ENST00000403559.4_Missense_Mutation_p.G300D|FOXP2_ENST00000350908.4_Missense_Mutation_p.G283D|FOXP2_ENST00000393494.2_Missense_Mutation_p.G283D|FOXP2_ENST00000360232.4_Missense_Mutation_p.G283D|FOXP2_ENST00000393489.3_Missense_Mutation_p.G191D|FOXP2_ENST00000393491.3_Missense_Mutation_p.G191D|FOXP2_ENST00000390668.3_Missense_Mutation_p.G307D|FOXP2_ENST00000393498.2_Missense_Mutation_p.G262D|FOXP2_ENST00000378237.3_Missense_Mutation_p.G283D|FOXP2_ENST00000408937.3_Missense_Mutation_p.G308D			O15409	FOXP2_HUMAN	forkhead box P2	283	Gln-rich.				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding			breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						GAAGACAATGGCATTAAACAT	0.428													33	56					0	0	0.013726	0	0	A	114282537	G	A	114282537	3	1	15	1	0	0	0	0	1	0	0	0	6061	1203	42	2	1004	2	FOXP2	7	114282537	Missense_Mutation	SNP	G	TCGA-CS-6665-01A-11D-1893-08	57094824	114282537	44856126	42	653											
WNT2	7472	broad.mit.edu	37	7	116960776	116960776	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr7:116960776C>T	ENST00000265441.3	-	2	454	c.155G>A	c.(154-156)cGg>cAg	p.R52Q	AC002465.2_ENST00000436097.1_RNA	NM_003391.2	NP_003382.1	P09544	WNT2_HUMAN	wingless-type MMTV integration site family member 2	52					atrial cardiac muscle tissue morphogenesis|canonical Wnt receptor signaling pathway|cardiac epithelial to mesenchymal transition|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|dorsal/ventral axis specification|iris morphogenesis|labyrinthine layer blood vessel development|lens development in camera-type eye|lung induction|mammary gland epithelium development|neuron differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of fibroblast proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, calcium modulating pathway	cytoplasm|extracellular space|proteinaceous extracellular matrix	cytokine activity|frizzled binding|frizzled-2 binding|signal transducer activity			breast(2)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|ovary(3)|prostate(1)|skin(2)	31	all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		ACACAGCTGCCGCTGGCTGCT	0.597													9	29					0	0	0.008291	0	0	T	116960776	C	T	116960776	3	4	15	1	0	0	0	0	1	0	0	0	17446	652	23	1	943	1	WNT2	7	116960776	Missense_Mutation	SNP	C	TCGA-CS-6665-01A-11D-1893-08	2678239	116960776	42177887	43	654											
AKR1B10	57016	broad.mit.edu	37	7	134212705	134212705	+	Silent	SNP	C	C	T			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr7:134212705C>T	ENST00000359579.4	+	1	362	c.42C>T	c.(40-42)ccC>ccT	p.P14P	AKR1B10_ENST00000475559.1_3'UTR	NM_020299.4	NP_064695.3	O60218	AK1BA_HUMAN	aldo-keto reductase family 1, member B10 (aldose reductase)	14					cellular aldehyde metabolic process|digestion|steroid metabolic process	cytoplasm	aldo-keto reductase (NADP) activity|protein binding			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(9)|skin(5)	20						CCAAGATGCCCATTGTGGGCC	0.502													17	78					0	0	0.006122	0	0	T	134212705	C	T	134212705	2	4	15	1	0	0	0	0	0	0	0	1	464	581	21	2		2	AKR1B10	7	134212705	Silent	SNP	C	TCGA-CS-6665-01A-11D-1893-08	17251929	134212705	24925958	44	655											
POLR3D	661	broad.mit.edu	37	8	22107627	22107627	+	Missense_Mutation	SNP	C	C	A			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr8:22107627C>A	ENST00000397802.4	+	7	1176	c.961C>A	c.(961-963)Ctg>Atg	p.L321M	POLR3D_ENST00000306433.4_Missense_Mutation_p.L321M			P05423	RPC4_HUMAN	polymerase (RNA) III (DNA directed) polypeptide D, 44kDa	321					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)	13				Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)		CCTGGCTGACCTGACAGAGGG	0.542													34	51					2.48696e-23	4.15375e-23	0.003271	1	0	A	22107627	C	A	22107627	3	1	15	1	0	0	0	0	1	0	0	0	12279	680	24	4	987	4	POLR3D	8	22107627	Missense_Mutation	SNP	C	TCGA-CS-6665-01A-11D-1893-08		22107627	124256395	45	656											
DOCK5	80005	broad.mit.edu	37	8	25154057	25154057	+	Missense_Mutation	SNP	G	G	C			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr8:25154057G>C	ENST00000276440.7	+	7	543	c.499G>C	c.(499-501)Gat>Cat	p.D167H	DOCK5_ENST00000481100.1_Missense_Mutation_p.D167H	NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	167						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		GGTGGTGCGAGATGACAATGG	0.512													4	15					0	0	0.009096	0	0	C	25154057	G	C	25154057	3	2	15	1	0	0	0	0	1	0	0	0	4717	942	33	4	525	4	DOCK5	8	25154057	Missense_Mutation	SNP	G	TCGA-CS-6665-01A-11D-1893-08	3046430	25154057	121209965	46	657											
ANK1	286	broad.mit.edu	37	8	41543690	41543690	+	Missense_Mutation	SNP	C	C	T	rs138642972	byFrequency	TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr8:41543690C>T	ENST00000396942.1	-	36	4453	c.4370G>A	c.(4369-4371)cGt>cAt	p.R1457H	ANK1_ENST00000396945.1_Missense_Mutation_p.R1457H|ANK1_ENST00000265709.8_Missense_Mutation_p.R1498H|ANK1_ENST00000289734.7_Missense_Mutation_p.R1457H|ANK1_ENST00000352337.4_Missense_Mutation_p.R1457H|ANK1_ENST00000379758.2_Missense_Mutation_p.R1457H|ANK1_ENST00000347528.4_Missense_Mutation_p.R1457H			P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	1457	55 kDa regulatory domain.|Death.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton	p.R1457H(1)		breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			TTGGCCTTCACGGATGACCCA	0.522													25	72					0	0	0.00632	0	0	T	41543690	C	T	41543690	3	4	15	1	0	0	0	0	1	0	0	0	616	536	19	1	1629	1	ANK1	8	41543690	Missense_Mutation	SNP	C	TCGA-CS-6665-01A-11D-1893-08	16389633	41543690	104820332	47	658											
CLVS1	157807	broad.mit.edu	37	8	62371030	62371030	+	Silent	SNP	C	C	T			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr8:62371030C>T	ENST00000519846.1	+	6	1378	c.906C>T	c.(904-906)tcC>tcT	p.S302S	CLVS1_ENST00000518592.1_Silent_p.S23S|CLVS1_ENST00000325897.4_Silent_p.S302S			Q8IUQ0	CLVS1_HUMAN	clavesin 1	302					lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity			endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						CTCACACATCCTATAATGCAA	0.502													20	51					0	0	0.00278	0	0	T	62371030	C	T	62371030	2	4	15	1	0	0	0	0	0	0	0	1	3594	668	24	2		2	CLVS1	8	62371030	Silent	SNP	C	TCGA-CS-6665-01A-11D-1893-08	20827340	62371030	83992992	48	659											
COL5A1	1289	broad.mit.edu	37	9	137591840	137591840	+	Silent	SNP	C	C	T			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr9:137591840C>T	ENST00000371817.3	+	3	777	c.363C>T	c.(361-363)aaC>aaT	p.N121N	COL5A1_ENST00000464187.1_3'UTR	NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	121	Laminin G-like.|TSP N-terminal.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CCATCTACAACGAGCAGGGTA	0.587													27	113					0	0	0.007291	0	0	T	137591840	C	T	137591840	2	4	15	1	0	0	0	0	0	0	0	1	3719	535	19	1		1	COL5A1	9	137591840	Silent	SNP	C	TCGA-CS-6665-01A-11D-1893-08		137591840	3621591	49	660											
FAM21B	55747	broad.mit.edu	37	10	47909193	47909194	+	Frame_Shift_Del	DEL	CC	CC	-			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr10:47909193_47909194delCC	ENST00000358474.5	+	10	763_764	c.763_764delCC	c.(763-765)cccfs	p.P256fs		NM_018232.1	NP_060702.1	Q5SNT6	FA21B_HUMAN	family with sequence similarity 21, member B	256					retrograde transport, endosome to Golgi	early endosome membrane|WASH complex				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	10						CTTATTCACACCCCCCAAGCTG	0.515													2	4	---	---	---	---						-	47909194	CC	-	47909193	7	5	15	1	0	1	0	1	0	0	0	0	5573	507	18	0	801	0	FAM21B	10	47909193	Frame_Shift_Del	DEL	CC	TCGA-CS-6665-01A-11D-1893-08		47909193	87625554	50	661											
FOLH1	2346	broad.mit.edu	37	11	49207240	49207240	+	Silent	SNP	T	T	C			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr11:49207240T>C	ENST00000340334.7	-	7	1130	c.762A>G	c.(760-762)acA>acG	p.T254T	FOLH1_ENST00000533034.1_Silent_p.T254T|FOLH1_ENST00000256999.2_Silent_p.T269T|FOLH1_ENST00000343844.4_Intron|FOLH1_ENST00000356696.3_Silent_p.T269T	NM_001193471.1|NM_001193472.1	NP_001180400.1|NP_001180401.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	269					proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)|L-Glutamic Acid(DB00142)	GGTAACCTGGTGTGAGAGGGT	0.428													12	29					0	0	0.001855	0	0	C	49207240	T	C	49207240	2	2	15	1	0	0	0	0	0	0	0	1	6012	1683	59	3		3	FOLH1	11	49207240	Silent	SNP	T	TCGA-CS-6665-01A-11D-1893-08		49207240	85799276	51	662											
OR5D14	219436	broad.mit.edu	37	11	55563532	55563532	+	Silent	SNP	G	G	T			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr11:55563532G>T	ENST00000335605.1	+	1	501	c.501G>T	c.(499-501)cgG>cgT	p.R167R		NM_001004735.1	NP_001004735.1	Q8NGL3	OR5DE_HUMAN	olfactory receptor, family 5, subfamily D, member 14	167					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48		all_epithelial(135;0.196)				ATGCTCTCCGGTTAAACTTCT	0.502													34	163					6.05902e-23	1.00133e-22	0.003755	1	0	T	55563532	G	T	55563532	2	4	15	1	0	0	0	0	0	0	0	1	11202	1248	44	5		5	OR5D14	11	55563532	Silent	SNP	G	TCGA-CS-6665-01A-11D-1893-08	6356292	55563532	79442984	52	663											
OR9G1	390174	broad.mit.edu	37	11	56468417	56468417	+	Missense_Mutation	SNP	A	A	G			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr11:56468417A>G	ENST00000312153.1	+	1	554	c.554A>G	c.(553-555)gAg>gGg	p.E185G		NM_001005213.1	NP_001005213.1			olfactory receptor, family 9, subfamily G, member 1											breast(2)|kidney(1)|lung(25)|stomach(2)|upper_aerodigestive_tract(1)	31						CCCTTGGTGGAGCTGGCCTGT	0.463													30	112					0	0	0.007291	0	0	G	56468417	A	G	56468417	3	3	15	1	0	0	0	0	1	0	0	0	11297	304	11	3	556	3	OR9G1	11	56468417	Missense_Mutation	SNP	A	TCGA-CS-6665-01A-11D-1893-08	904885	56468417	78538099	53	664											
APOA1	335	broad.mit.edu	37	11	116707048	116707048	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr11:116707048C>T	ENST00000236850.4	-	4	645	c.280G>A	c.(280-282)Gag>Aag	p.E94K	APOA1_ENST00000375320.1_Missense_Mutation_p.E94K|APOA1_ENST00000375329.2_Missense_Mutation_p.E72K|AP006216.12_ENST00000444200.1_RNA|APOA1_ENST00000375323.1_Missense_Mutation_p.E94K|APOA1_ENST00000359492.2_Missense_Mutation_p.E94K	NM_000039.1	NP_000030.1	P02647	APOA1_HUMAN	apolipoprotein A-I	94	10 X approximate tandem repeats.				Cdc42 protein signal transduction|cholesterol efflux|cholesterol homeostasis|cholesterol import|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|negative regulation of cytokine secretion involved in immune response|negative regulation of interleukin-1 beta secretion|negative regulation of very-low-density lipoprotein particle remodeling|phosphatidylcholine biosynthetic process|phospholipid efflux|platelet activation|platelet degranulation|positive regulation of cholesterol esterification|positive regulation of hydrolase activity|protein stabilization|reverse cholesterol transport	endocytic vesicle|endoplasmic reticulum lumen|plasma membrane|spherical high-density lipoprotein particle|stored secretory granule|very-low-density lipoprotein particle	apolipoprotein A-I receptor binding|beta-amyloid binding|cholesterol binding|cholesterol transporter activity|enzyme binding|high-density lipoprotein particle receptor binding|identical protein binding|phosphatidylcholine-sterol O-acyltransferase activator activity|phospholipid binding			cervix(1)|endometrium(1)|lung(4)|prostate(1)|skin(2)	9	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.59e-05)|all cancers(92;0.000162)|OV - Ovarian serous cystadenocarcinoma(223;0.148)		TCCCAGAACTCCTGGGTCACA	0.592													23	81					0	0	0.012319	0	0	T	116707048	C	T	116707048	3	4	15	1	0	0	0	0	1	0	0	0	777	864	30	2	527	2	APOA1	11	116707048	Missense_Mutation	SNP	C	TCGA-CS-6665-01A-11D-1893-08	60238631	116707048	18299468	54	665											
IRAK3	11213	broad.mit.edu	37	12	66638280	66638280	+	Missense_Mutation	SNP	T	T	C			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr12:66638280T>C	ENST00000261233.4	+	9	1323	c.902T>C	c.(901-903)tTg>tCg	p.L301S	IRAK3_ENST00000457197.2_Missense_Mutation_p.L240S	NM_007199.2	NP_009130.2	Q9Y616	IRAK3_HUMAN	interleukin-1 receptor-associated kinase 3	301	Protein kinase.				interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|negative regulation of innate immune response|negative regulation of interleukin-12 production|negative regulation of interleukin-6 production|negative regulation of macrophage cytokine production|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein catabolic process|negative regulation of protein complex disassembly|negative regulation of toll-like receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of macrophage tolerance induction|positive regulation of NF-kappaB transcription factor activity|response to exogenous dsRNA|response to lipopolysaccharide|response to peptidoglycan	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein heterodimerization activity|protein homodimerization activity|protein serine/threonine kinase activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(28;0.0203)		AACATCCTTTTGGATGATCAG	0.393													16	50					0	0	0.006122	0	0	C	66638280	T	C	66638280	3	2	15	1	0	0	0	0	1	0	0	0	7868	1821	63	3	936	3	IRAK3	12	66638280	Missense_Mutation	SNP	T	TCGA-CS-6665-01A-11D-1893-08		66638280	67213615	55	666											
KERA	11081	broad.mit.edu	37	12	91449807	91449807	+	Silent	SNP	T	T	C			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr12:91449807T>C	ENST00000266719.3	-	2	499	c.252A>G	c.(250-252)gaA>gaG	p.E84E		NM_007035.3	NP_008966.1	O60938	KERA_HUMAN	keratocan	84					response to stimulus|visual perception	proteinaceous extracellular matrix				breast(2)|large_intestine(8)|lung(5)|prostate(2)|skin(2)	19						CAGGAATGGTTTCTATCAGGT	0.348													13	73					0	0	0.013537	0	0	C	91449807	T	C	91449807	2	2	15	1	0	0	0	0	0	0	0	1	8186	1838	64	3		3	KERA	12	91449807	Silent	SNP	T	TCGA-CS-6665-01A-11D-1893-08	24811527	91449807	42402088	56	667											
TMCC3	57458	broad.mit.edu	37	12	94975589	94975589	+	Silent	SNP	G	G	A			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr12:94975589G>A	ENST00000261226.4	-	2	935	c.804C>T	c.(802-804)aaC>aaT	p.N268N	TMCC3_ENST00000551457.1_Silent_p.N237N	NM_020698.2	NP_065749	Q9ULS5	TMCC3_HUMAN	transmembrane and coiled-coil domain family 3	268						integral to membrane				NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	29						ACTGGTTTCCGTTACTGTCGG	0.592													24	93					0	0	0.00278	0	0	A	94975589	G	A	94975589	2	1	15	1	0	0	0	0	0	0	0	1	16054	1136	40	1		1	TMCC3	12	94975589	Silent	SNP	G	TCGA-CS-6665-01A-11D-1893-08	3525782	94975589	38876306	57	668											
ATP8A2	51761	broad.mit.edu	37	13	26411309	26411309	+	Silent	SNP	C	C	A			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr13:26411309C>A	ENST00000381655.2	+	29	2905	c.2763C>A	c.(2761-2763)acC>acA	p.T921T	ATP8A2_ENST00000491840.1_3'UTR|ATP8A2_ENST00000255283.8_Silent_p.T856T	NM_016529.4	NP_057613.4	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8A, member 2	881					ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		AGATTTTCACCGCTTTGCCGC	0.498													52	105					2.83923e-41	4.79311e-41	0.01441	1	0	A	26411309	C	A	26411309	2	1	15	1	0	0	0	0	0	0	0	1	1191	639	23	5		5	ATP8A2	13	26411309	Silent	SNP	C	TCGA-CS-6665-01A-11D-1893-08		26411309	88758569	58	669											
MYO16	23026	broad.mit.edu	37	13	109318372	109318372	+	Missense_Mutation	SNP	G	G	A			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr13:109318372G>A	ENST00000356711.2	+	2	227	c.101G>A	c.(100-102)cGc>cAc	p.R34H	MYO16_ENST00000251041.5_Missense_Mutation_p.R34H|MYO16_ENST00000357550.2_Missense_Mutation_p.R34H	NM_015011.1	NP_055826.1	Q9Y6X6	MYO16_HUMAN	myosin XVI	34					cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity	p.R34H(2)		NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			TACTATGAGCGCGAGAAGGCT	0.527													14	42					0	0	0.001855	0	0	A	109318372	G	A	109318372	3	1	15	1	0	0	0	0	1	0	0	0	10112	1087	38	1	103	1	MYO16	13	109318372	Missense_Mutation	SNP	G	TCGA-CS-6665-01A-11D-1893-08	82907063	109318372	5851506	59	670											
CASC5	57082	broad.mit.edu	37	15	40914116	40914116	+	Missense_Mutation	SNP	T	T	C			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr15:40914116T>C	ENST00000346991.5	+	11	2122	c.1732T>C	c.(1732-1734)Tca>Cca	p.S578P	CASC5_ENST00000399668.2_Missense_Mutation_p.S552P|CASC5_ENST00000527044.1_3'UTR			Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5	578	Interaction with BUB1 and BUB1B.				acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint	acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding			NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		GCAGAGCCTGTCAAATCCTTT	0.358													10	48					0	0	0.010729	0	0	C	40914116	T	C	40914116	3	2	15	1	0	0	0	0	1	0	0	0	2681	1667	58	3	1770	3	CASC5	15	40914116	Missense_Mutation	SNP	T	TCGA-CS-6665-01A-11D-1893-08		40914116	61617276	60	671											
TUBGCP4	27229	broad.mit.edu	37	15	43695930	43695930	+	Missense_Mutation	SNP	C	C	T	rs149549954	by1000genomes	TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr15:43695930C>T	ENST00000564079.1	+	16	2021	c.1781C>T	c.(1780-1782)tCg>tTg	p.S594L	TUBGCP4_ENST00000399460.3_3'UTR|TUBGCP4_ENST00000260383.7_Missense_Mutation_p.S595L	NM_014444.2	NP_055259.2	Q9UGJ1	GCP4_HUMAN	tubulin, gamma complex associated protein 4	595					G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	structural constituent of cytoskeleton			breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(4)|prostate(2)|upper_aerodigestive_tract(2)	21		all_cancers(109;1.27e-10)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.72e-06)|all_lung(180;1.59e-05)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;3.53e-07)		AGTTTTTGTTCGCTGGTCAGT	0.527													22	21					0	0	0.00333	0	0	T	43695930	C	T	43695930	3	4	15	1	0	0	0	0	1	0	0	0	16830	893	31	1	1843	1	TUBGCP4	15	43695930	Missense_Mutation	SNP	C	TCGA-CS-6665-01A-11D-1893-08	2781814	43695930	58835462	61	672											
AP4E1	23431	broad.mit.edu	37	15	51260560	51260560	+	Missense_Mutation	SNP	T	T	G			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr15:51260560T>G	ENST00000261842.5	+	15	2058	c.1952T>G	c.(1951-1953)cTt>cGt	p.L651R	AP4E1_ENST00000560508.1_Missense_Mutation_p.L576R	NM_001252127.1|NM_007347.4	NP_001239056.1|NP_031373.2	Q9UPM8	AP4E1_HUMAN	adaptor-related protein complex 4, epsilon 1 subunit	651					intracellular protein transport|vesicle-mediated transport	COPI vesicle coat	binding|structural molecule activity			breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(5)|skin(2)	27				all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364)		GAGGAAAAGCTTTCTCAGGAA	0.373													6	14					0	0	0.001984	0	0	G	51260560	T	G	51260560	3	3	15	1	0	0	0	0	1	0	0	0	748	1609	56	5	2010	5	AP4E1	15	51260560	Missense_Mutation	SNP	T	TCGA-CS-6665-01A-11D-1893-08	7564630	51260560	51270832	62	673											
ACSM1	116285	broad.mit.edu	37	16	20635526	20635526	+	Silent	SNP	G	G	A			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr16:20635526G>A	ENST00000219151.4	-	13	1702	c.492C>T	c.(490-492)gcC>gcT	p.A164A	ACSM1_ENST00000520010.1_Silent_p.A513A|ACSM1_ENST00000307493.4_Silent_p.A513A			Q08AH1	ACSM1_HUMAN	acyl-CoA synthetase medium-chain family member 1	513					benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process	mitochondrial matrix	acyl-CoA ligase activity|ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						GGACAATAAAGGCCTTCACCA	0.473													21	69					0	0	0.014323	0	0	A	20635526	G	A	20635526	2	1	15	1	0	0	0	0	0	0	0	1	182	987	35	2		2	ACSM1	16	20635526	Silent	SNP	G	TCGA-CS-6665-01A-11D-1893-08		20635526	69719227	63	674											
ADAMTS18	170692	broad.mit.edu	37	16	77401350	77401350	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr16:77401350G>A	ENST00000282849.5	-	4	1184	c.766C>T	c.(766-768)Cga>Tga	p.R256*		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	256					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						TTCTTGCGTCGTCCACAAAAA	0.443													18	72					0	0	0.010504	0	0	A	77401350	G	A	77401350	4	1	15	1	0	0	0	0	0	1	0	0	262	1153	40	1	2979	1	ADAMTS18	16	77401350	Nonsense_Mutation	SNP	G	TCGA-CS-6665-01A-11D-1893-08	56765824	77401350	12953403	64	675											
TP53	7157	broad.mit.edu	37	17	7577105	7577105	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr17:7577105delG	ENST00000420246.2	-	8	965	c.833delC	c.(832-834)cctfs	p.P278fs	TP53_ENST00000359597.4_Frame_Shift_Del_p.P278fs|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Frame_Shift_Del_p.P278fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.P278fs|TP53_ENST00000269305.4_Frame_Shift_Del_p.P278fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	278	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		P -> A (in sporadic cancers; somatic mutation; dbSNP:rs17849781).|P -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> H (in sporadic cancers; somatic mutation).|P -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation).|P -> T (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.P278L(61)|p.P278R(30)|p.P278H(13)|p.0?(8)|p.P278F(3)|p.?(2)|p.P278fs*67(2)|p.A276_R283delACPGRDRR(1)|p.C275fs*20(1)|p.A276fs*64(1)|p.L265_K305del41(1)|p.F270_D281del12(1)|p.V274_P278del(1)|p.S269fs*21(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(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)		GTCTCTCCCAGGACAGGCACA	0.552		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	13	---	---	---	---						-	7577105	G	-	7577105	7	5	15	1	0	1	0	1	0	0	0	0	16442	1000	35	0	453	0	TP53	17	7577105	Frame_Shift_Del	DEL	G	TCGA-CS-6665-01A-11D-1893-08		7577105	73618105	65	676											
DNAH2	146754	broad.mit.edu	37	17	7643864	7643864	+	Silent	SNP	C	C	T			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr17:7643864C>T	ENST00000572933.1	+	10	2963	c.1503C>T	c.(1501-1503)cgC>cgT	p.R501R	DNAH2_ENST00000570791.1_Silent_p.R583R|DNAH2_ENST00000082259.3_Silent_p.R583R|DNAH2_ENST00000389173.2_Silent_p.R501R			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	501	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TTGCCTCCCGCGAGGTGCGGC	0.672													17	112					0	0	0.007413	0	0	T	7643864	C	T	7643864	2	4	15	1	0	0	0	0	0	0	0	1	4630	755	27	1		1	DNAH2	17	7643864	Silent	SNP	C	TCGA-CS-6665-01A-11D-1893-08	66759	7643864	73551346	66	677											
DNAJC7	7266	broad.mit.edu	37	17	40140910	40140910	+	Missense_Mutation	SNP	G	G	A			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr17:40140910G>A	ENST00000457167.4	-	8	994	c.758C>T	c.(757-759)gCc>gTc	p.A253V	DNAJC7_ENST00000426588.3_Missense_Mutation_p.A197V|DNAJC7_ENST00000316603.7_Missense_Mutation_p.A197V	NM_003315.3	NP_003306.3	Q99615	DNJC7_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 7	253					chaperone cofactor-dependent protein refolding	cytoplasm|cytoskeleton|nucleus	heat shock protein binding|unfolded protein binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)	9		all_cancers(22;0.00273)|Breast(137;0.00104)|all_epithelial(22;0.0305)				GAGTGCTTTGGCATTCTACAG	0.423													51	84					0	0	0.01441	0	0	A	40140910	G	A	40140910	3	1	15	1	0	0	0	0	1	0	0	0	4681	1203	42	2	754	2	DNAJC7	17	40140910	Missense_Mutation	SNP	G	TCGA-CS-6665-01A-11D-1893-08	32497046	40140910	41054300	67	678											
CSHL1	1444	broad.mit.edu	37	17	61987091	61987091	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr17:61987091C>T	ENST00000259003.10	-	5	607	c.463G>A	c.(463-465)Gag>Aag	p.E155K	CSHL1_ENST00000558099.1_5'UTR|CSHL1_ENST00000450719.3_3'UTR|CSHL1_ENST00000309894.5_Missense_Mutation_p.E217K|CSHL1_ENST00000438387.2_Missense_Mutation_p.E134K|CSHL1_ENST00000561003.1_3'UTR|CSHL1_ENST00000346606.6_Missense_Mutation_p.E123K			Q14406	CSHL_HUMAN	chorionic somatomammotropin hormone-like 1	217						extracellular region	hormone activity|metal ion binding			endometrium(3)|lung(6)	9						CAGCTGCCCTCCACAGAGCGG	0.632													41	65					0	0	0.006999	0	0	T	61987091	C	T	61987091	3	4	15	1	0	0	0	0	1	0	0	0	3967	864	30	2	23	2	CSHL1	17	61987091	Missense_Mutation	SNP	C	TCGA-CS-6665-01A-11D-1893-08	21846181	61987091	19208119	68	679											
LGALS3BP	3959	broad.mit.edu	37	17	76967757	76967757	+	Silent	SNP	C	C	T			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr17:76967757C>T	ENST00000262776.3	-	6	1967	c.1659G>A	c.(1657-1659)tcG>tcA	p.S553S	LGALS3BP_ENST00000591778.1_3'UTR	NM_005567.3	NP_005558.1	Q08380	LG3BP_HUMAN	lectin, galactoside-binding, soluble, 3 binding protein	553					cell adhesion|cellular defense response	extracellular space|membrane|proteinaceous extracellular matrix	protein binding|scavenger receptor activity	p.S553S(1)		NS(1)|breast(1)|central_nervous_system(5)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(99;0.0677)|OV - Ovarian serous cystadenocarcinoma(97;0.139)			AGGTGCTCTTCGAGCTGTTGG	0.612											OREG0024787	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	24	43					0	0	0.00333	0	0	T	76967757	C	T	76967757	2	4	15	1	0	0	0	0	0	0	0	1	8783	871	31	1		1	LGALS3BP	17	76967757	Silent	SNP	C	TCGA-CS-6665-01A-11D-1893-08	14980666	76967757	4227453	69	680											
EMILIN2	84034	broad.mit.edu	37	18	2891806	2891806	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr18:2891806delC	ENST00000254528.3	+	4	1840	c.1681delC	c.(1681-1683)cctfs	p.P561fs		NM_032048.2	NP_114437.2	Q9BXX0	EMIL2_HUMAN	elastin microfibril interfacer 2	561					cell adhesion	collagen	extracellular matrix constituent conferring elasticity|protein binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4)	48				READ - Rectum adenocarcinoma(2;0.1)		CCAGGGAAAGCCTCATGGGAT	0.502													23	64	---	---	---	---						-	2891806	C	-	2891806	7	5	15	1	0	1	0	1	0	0	0	0	5122	739	26	0	1695	0	EMILIN2	18	2891806	Frame_Shift_Del	DEL	C	TCGA-CS-6665-01A-11D-1893-08		2891806	75185442	70	681											
LAMA3	3909	broad.mit.edu	37	18	21489195	21489195	+	Missense_Mutation	SNP	A	A	G			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr18:21489195A>G	ENST00000313654.9	+	55	7335	c.7094A>G	c.(7093-7095)aAc>aGc	p.N2365S	LAMA3_ENST00000399516.3_Missense_Mutation_p.N2309S|LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000587184.1_Missense_Mutation_p.N700S|LAMA3_ENST00000269217.6_Missense_Mutation_p.N756S	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	2365	Domain II and I.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CCCTTGGGAAACATCTCTGAC	0.453													13	69					0	0	0.013537	0	0	G	21489195	A	G	21489195	3	3	15	1	0	0	0	0	1	0	0	0	8646	43	2	3	7487	3	LAMA3	18	21489195	Missense_Mutation	SNP	A	TCGA-CS-6665-01A-11D-1893-08	18597389	21489195	56588053	71	682											
SERPINB11	89778	broad.mit.edu	37	18	61387343	61387343	+	RNA	SNP	A	A	T			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr18:61387343A>T	ENST00000544088.1	+	0	634				SERPINB11_ENST00000538847.1_RNA|SERPINB11_ENST00000536691.1_RNA|SERPINB11_ENST00000382749.5_RNA	NM_080475.2	NP_536723.2	Q96P15	SPB11_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 11 (gene/pseudogene)						regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			breast(1)|cervix(1)|kidney(1)|lung(3)	6		Esophageal squamous(42;0.129)				TGGCAAAATAAATTTCAAGTA	0.348													8	33					0	0	0.004482	0	0	T	61387343	A	T	61387343	1	4	15	0	1	0	0	0	0	0	0	0	14152	14	1	5		5	SERPINB11	18	61387343	RNA	SNP	A	TCGA-CS-6665-01A-11D-1893-08	39898148	61387343	16689905	72	683											
S1PR2	9294	broad.mit.edu	37	19	10334891	10334891	+	Silent	SNP	G	G	A			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr19:10334891G>A	ENST00000590320.1	-	2	801	c.691C>T	c.(691-693)Ctg>Ttg	p.L231L		NM_004230.3	NP_004221.3	O95136	S1PR2_HUMAN	sphingosine-1-phosphate receptor 2	231					activation of MAPK activity|positive regulation of cell proliferation	integral to membrane|plasma membrane	lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						GTCTTGAGCAGGGCTAGCGTC	0.617													14	32					0	0	0.00245	0	0	A	10334891	G	A	10334891	2	1	15	1	0	0	0	0	0	0	0	1	13846	991	35	2		2	S1PR2	19	10334891	Silent	SNP	G	TCGA-CS-6665-01A-11D-1893-08		10334891	48794092	73	684											
ZNF585B	92285	broad.mit.edu	37	19	37676803	37676803	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr19:37676803C>T	ENST00000532828.2	-	5	1887	c.1636G>A	c.(1636-1638)Gga>Aga	p.G546R	ZNF585B_ENST00000531805.1_Missense_Mutation_p.G491R|ZNF585B_ENST00000527838.1_3'UTR|CTC-454I21.3_ENST00000585860.2_Intron|ZNF585B_ENST00000312908.5_Missense_Mutation_p.G134R	NM_152279.3	NP_689492.3	Q52M93	Z585B_HUMAN	zinc finger protein 585B	546					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TGTCTCTCTCCAGTGTGAATT	0.383													16	81					0	0	0.007413	0	0	T	37676803	C	T	37676803	3	4	15	1	0	0	0	0	1	0	0	0	18075	603	21	2	677	2	ZNF585B	19	37676803	Missense_Mutation	SNP	C	TCGA-CS-6665-01A-11D-1893-08	27341912	37676803	21452180	74	685											
FCGBP	8857	broad.mit.edu	37	19	40368357	40368357	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr19:40368357C>T	ENST00000221347.6	-	28	12998	c.12991G>A	c.(12991-12993)Gcc>Acc	p.A4331T		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	4331						extracellular region	protein binding	p.A4331T(1)		NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GCCTGGCAGGCGGCCACGTAG	0.647													30	260					0	0	0.010818	0	0	T	40368357	C	T	40368357	3	4	15	1	0	0	0	0	1	0	0	0	5811	768	27	1	3262	1	FCGBP	19	40368357	Missense_Mutation	SNP	C	TCGA-CS-6665-01A-11D-1893-08	2691554	40368357	18760626	75	686											
NLRP12	91662	broad.mit.edu	37	19	54299148	54299148	+	Silent	SNP	C	C	G			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr19:54299148C>G	ENST00000324134.6	-	9	3231	c.3063G>C	c.(3061-3063)cgG>cgC	p.R1021R	NLRP12_ENST00000535162.1_Intron|NLRP12_ENST00000345770.5_Intron|NLRP12_ENST00000354278.3_Intron|NLRP12_ENST00000391772.1_Intron|NLRP12_ENST00000391773.1_Silent_p.R1022R|NLRP12_ENST00000391775.3_Silent_p.R964R|NLRP12_ENST00000351894.4_Silent_p.R909R	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	1021					negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		GATGGCTCAGCCGCTTGCAAA	0.557													5	38					0	0	0.000602	0	0	G	54299148	C	G	54299148	2	3	15	1	0	0	0	0	0	0	0	1	10521	726	26	5		5	NLRP12	19	54299148	Silent	SNP	C	TCGA-CS-6665-01A-11D-1893-08	13930791	54299148	4829835	76	687											
PCSK2	5126	broad.mit.edu	37	20	17446133	17446133	+	Missense_Mutation	SNP	G	G	T			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr20:17446133G>T	ENST00000262545.2	+	11	1680	c.1365G>T	c.(1363-1365)atG>atT	p.M455I	PCSK2_ENST00000377899.1_Missense_Mutation_p.M436I|PCSK2_ENST00000536609.1_Missense_Mutation_p.M420I|PCSK2_ENST00000459871.1_3'UTR	NM_002594.3	NP_002585.2	P16519	NEC2_HUMAN	proprotein convertase subtilisin/kexin type 2	455					enkephalin processing|insulin processing|islet amyloid polypeptide processing	extracellular space|membrane|soluble fraction|transport vesicle	serine-type endopeptidase activity			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TGGTGAAAATGGCTAAAGACT	0.567													7	45					1.26484e-09	2.00586e-09	0.00308	1	0	T	17446133	G	T	17446133	3	4	15	1	0	0	0	0	1	0	0	0	11648	1348	47	5	1407	5	PCSK2	20	17446133	Missense_Mutation	SNP	G	TCGA-CS-6665-01A-11D-1893-08		17446133	45579387	77	688											
CYTH4	27128	broad.mit.edu	37	22	37705324	37705326	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr22:37705324_37705326delCTT	ENST00000248901.6	+	9	955_957	c.768_770delCTT	c.(766-771)accttc>acc	p.F258del		NM_013385.3	NP_037517.1	Q9UIA0	CYH4_HUMAN	cytohesin 4	258					regulation of ARF protein signal transduction|regulation of cell adhesion	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(2)|stomach(1)	15						TCACTCACACCTTCTTCAATCCA	0.567													45	81	---	---	---	---						-	37705326	CTT	-	37705324	7	5	15	1	0	1	0	1	0	0	0	0	4229	668	24	0	802	0	CYTH4	22	37705324	In_Frame_Del	DEL	CTT	TCGA-CS-6665-01A-11D-1893-08		37705324	13599242	78	689											
GYG2	8908	broad.mit.edu	37	X	2799186	2799186	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chrX:2799186C>T	ENST00000381163.3	+	12	1720	c.1438C>T	c.(1438-1440)Cgt>Tgt	p.R480C	GYG2_ENST00000381161.1_3'UTR|GYG2_ENST00000398806.3_Missense_Mutation_p.R449C|GYG2_ENST00000338623.5_Missense_Mutation_p.R444C|GYG2_ENST00000542787.1_Missense_Mutation_p.R409C	NM_001079855.1|NM_001184702.1|NM_003918.2	NP_001073324.1|NP_001171631.1|NP_003909.2	O15488	GLYG2_HUMAN	glycogenin 2	480					glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|soluble fraction	glycogenin glucosyltransferase activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)	13		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GGAGGAAGGCCGTATCGACTA	0.572													7	29					0	0	0.00308	0	0	T	2799186	C	T	2799186	3	4	15	1	0	0	0	0	1	0	0	0	6947	652	23	1	1480	1	GYG2	23	2799186	Missense_Mutation	SNP	C	TCGA-CS-6665-01A-11D-1893-08		2799186	152471374	79	690											
PRPS2	5634	broad.mit.edu	37	X	12838861	12838861	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chrX:12838861C>T	ENST00000380668.5	+	6	931	c.803C>T	c.(802-804)gCt>gTt	p.A268V	PRPS2_ENST00000398491.2_Missense_Mutation_p.A271V	NM_001039091.2|NM_002765.4	NP_001034180.1|NP_002756.1	P11908	PRPS2_HUMAN	phosphoribosyl pyrophosphate synthetase 2	268					nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process		ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|urinary_tract(1)	16						GCCTTTGAGGCTGTTGTCGTC	0.483													19	70					0	0	0.010504	0	0	T	12838861	C	T	12838861	3	4	15	1	0	0	0	0	1	0	0	0	12632	797	28	2	834	2	PRPS2	23	12838861	Missense_Mutation	SNP	C	TCGA-CS-6665-01A-11D-1893-08	10039675	12838861	142431699	80	691											
RS1	6247	broad.mit.edu	37	X	18660177	18660177	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chrX:18660177C>T	ENST00000379984.3	-	6	662	c.622G>A	c.(622-624)Gtc>Atc	p.V208I	CDKL5_ENST00000379996.3_Intron|RS1_ENST00000476595.1_5'UTR|CDKL5_ENST00000379989.3_Intron	NM_000330.3	NP_000321.1	O15537	XLRS1_HUMAN	retinoschisin 1	208	F5/8 type C.				cell adhesion|multicellular organismal development|response to stimulus|visual perception	extracellular space				cervix(1)|endometrium(4)|large_intestine(5)|lung(2)|ovary(2)|skin(1)	15	Hepatocellular(33;0.183)					GCAATGCGGACGTGCCAGCCC	0.657													26	63					0	0	0.004656	0	0	T	18660177	C	T	18660177	3	4	15	1	0	0	0	0	1	0	0	0	13745	536	19	1	56	1	RS1	23	18660177	Missense_Mutation	SNP	C	TCGA-CS-6665-01A-11D-1893-08	5821316	18660177	136610383	81	692											
POLA1	5422	broad.mit.edu	37	X	24830876	24830876	+	Silent	SNP	G	G	A			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chrX:24830876G>A	ENST00000379068.3	+	29	3235	c.3192G>A	c.(3190-3192)ctG>ctA	p.L1064L	POLA1_ENST00000379059.3_Silent_p.L1058L			P09884	DPOLA_HUMAN	polymerase (DNA directed), alpha 1, catalytic subunit	1058					cell proliferation|DNA replication checkpoint|DNA replication, synthesis of RNA primer|DNA-dependent DNA replication initiation|double-strand break repair via nonhomologous end joining|interspecies interaction between organisms|lagging strand elongation|leading strand elongation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|cytoplasm|nuclear envelope|nuclear matrix|nucleolus|nucleoplasm	chromatin binding|DNA-directed DNA polymerase activity|metal ion binding|nucleoside binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|skin(2)	11					Clofarabine(DB00631)|Fludarabine(DB01073)	ACGCTGCTCTGGTTGTTGAGC	0.393													20	50					0	0	0.014323	0	0	A	24830876	G	A	24830876	2	1	15	1	0	0	0	0	0	0	0	1	12235	1335	47	2		2	POLA1	23	24830876	Silent	SNP	G	TCGA-CS-6665-01A-11D-1893-08	6170699	24830876	130439684	82	693											
FAM47B	170062	broad.mit.edu	37	X	34962025	34962025	+	Silent	SNP	C	C	T			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chrX:34962025C>T	ENST00000329357.5	+	1	1113	c.1077C>T	c.(1075-1077)gaC>gaT	p.D359D		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	359								p.D359D(1)		breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						AGCTGGAAGACGCACGGGCTC	0.537													20	53					0	0	0.008871	0	0	T	34962025	C	T	34962025	2	4	15	1	0	0	0	0	0	0	0	1	5606	535	19	1		1	FAM47B	23	34962025	Silent	SNP	C	TCGA-CS-6665-01A-11D-1893-08	10131149	34962025	120308535	83	694											
CFP	5199	broad.mit.edu	37	X	47487019	47487019	+	Missense_Mutation	SNP	C	C	A			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chrX:47487019C>A	ENST00000247153.3	-	5	666	c.425G>T	c.(424-426)tGg>tTg	p.W142L	CFP_ENST00000396992.3_Missense_Mutation_p.W142L|CFP_ENST00000377005.2_Missense_Mutation_p.W142L	NM_002621.2	NP_002612.1	P27918	PROP_HUMAN	complement factor properdin	142	TSP type-1 2.				complement activation, alternative pathway|defense response to bacterium	extracellular space				breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	18						CCAGGGCCCCCAGCCAGACCA	0.632													7	16					0.00198382	0.00296628	0.001984	1	0	A	47487019	C	A	47487019	3	1	15	1	0	0	0	0	1	0	0	0	3315	595	21	5	1008	5	CFP	23	47487019	Missense_Mutation	SNP	C	TCGA-CS-6665-01A-11D-1893-08	12524994	47487019	107783541	84	695											
FAM120C	54954	broad.mit.edu	37	X	54209051	54209051	+	Missense_Mutation	SNP	G	G	A			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chrX:54209051G>A	ENST00000375180.2	-	1	637	c.581C>T	c.(580-582)gCg>gTg	p.A194V	FAM120C_ENST00000328235.4_Missense_Mutation_p.A194V|FAM120C_ENST00000477084.1_Missense_Mutation_p.A194V|FAM120C_ENST00000497680.1_5'UTR	NM_017848.4	NP_060318.3	Q9NX05	F120C_HUMAN	family with sequence similarity 120C	194										breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						GATCAGTTGCGCTGTCTGCCG	0.721													7	15					0	0	0.001984	0	0	A	54209051	G	A	54209051	3	1	15	1	0	0	0	0	1	0	0	0	5449	1087	38	1	2795	1	FAM120C	23	54209051	Missense_Mutation	SNP	G	TCGA-CS-6665-01A-11D-1893-08	6722032	54209051	101061509	85	696											
USP51	158880	broad.mit.edu	37	X	55514135	55514135	+	Missense_Mutation	SNP	G	G	A			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chrX:55514135G>A	ENST00000500968.3	-	2	1320	c.1238C>T	c.(1237-1239)tCg>tTg	p.S413L	USP51_ENST00000586165.1_5'UTR	NM_201286.3	NP_958443.1	Q70EK9	UBP51_HUMAN	ubiquitin specific peptidase 51	413					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30						ATGAAAAAGCGAAGACATTTC	0.438													14	45					0	0	0.00245	0	0	A	55514135	G	A	55514135	3	1	15	1	0	0	0	0	1	0	0	0	17143	1059	37	1	901	1	USP51	23	55514135	Missense_Mutation	SNP	G	TCGA-CS-6665-01A-11D-1893-08	1305084	55514135	99756425	86	697											
KIAA2022	340533	broad.mit.edu	37	X	73963361	73963361	+	Missense_Mutation	SNP	G	G	T			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chrX:73963361G>T	ENST00000055682.6	-	3	1642	c.1031C>A	c.(1030-1032)aCc>aAc	p.T344N		NM_001008537.2	NP_001008537.1	Q5QGS0	K2022_HUMAN	KIAA2022						base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						CTTGGGGCAGGTAGTAAAGAC	0.463													17	69					1.5739e-10	2.52145e-10	0.004007	1	0	T	73963361	G	T	73963361	3	4	15	1	0	0	0	0	1	0	0	0	8311	1261	44	5	3527	5	KIAA2022	23	73963361	Missense_Mutation	SNP	G	TCGA-CS-6665-01A-11D-1893-08	18449226	73963361	81307199	87	698											
AMMECR1	9949	broad.mit.edu	37	X	109459855	109459855	+	Missense_Mutation	SNP	A	A	G			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chrX:109459855A>G	ENST00000262844.5	-	3	757	c.590T>C	c.(589-591)cTt>cCt	p.L197P	AMMECR1_ENST00000372059.2_Missense_Mutation_p.L160P|AMMECR1_ENST00000372057.1_Missense_Mutation_p.L74P	NM_015365.2	NP_056180.1	Q9Y4X0	AMER1_HUMAN	Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1	197	AMMECR1.									large_intestine(1)|lung(4)|ovary(1)|stomach(1)	7						GCTATCTTTAAGGGCACTGTT	0.378													21	95					0	0	0.012319	0	0	G	109459855	A	G	109459855	3	3	15	1	0	0	0	0	1	0	0	0	574	72	3	3	427	3	AMMECR1	23	109459855	Missense_Mutation	SNP	A	TCGA-CS-6665-01A-11D-1893-08	35496494	109459855	45810705	88	699											
GPC3	2719	broad.mit.edu	37	X	132887606	132887606	+	Missense_Mutation	SNP	C	C	A			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chrX:132887606C>A	ENST00000370818.3	-	3	1380	c.935G>T	c.(934-936)aGa>aTa	p.R312I	GPC3_ENST00000543339.1_Missense_Mutation_p.R258I|GPC3_ENST00000394299.2_Missense_Mutation_p.R312I	NM_001164618.1|NM_004484.3	NP_001158090.1|NP_004475.1	P51654	GPC3_HUMAN	glypican 3	312						extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding|peptidyl-dipeptidase inhibitor activity			breast(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|prostate(1)|skin(2)	36	Acute lymphoblastic leukemia(192;0.000127)					GTCATAGATTCTGTACATGCC	0.443			"T, D, Mis, N, F, S"			Wilms tumour			Simpson-Golabi-Behmel syndrome				6	144					8.12818e-05	0.00012511	0.001984	1	0	A	132887606	C	A	132887606	3	1	15	1	0	0	0	0	1	0	0	0	6639	913	32	4	904	4	GPC3	23	132887606	Missense_Mutation	SNP	C	TCGA-CS-6665-01A-11D-1893-08	23427751	132887606	22382954	89	700											
SPEN	23013	broad.mit.edu	37	1	16258985	16258985	+	Missense_Mutation	SNP	A	A	G			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr1:16258985A>G	ENST00000375759.3	+	11	6454	c.6250A>G	c.(6250-6252)Agg>Ggg	p.R2084G		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	2084					interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		TCGAAACTCCAGGTTAGCAGT	0.512													4	206					0	0	0.000602	0	0	G	16258985	A	G	16258985	3	3	16	1	0	0	0	0	1	0	0	0	15094	179	7	3	6292	3	SPEN	1	16258985	Missense_Mutation	SNP	A	TCGA-CS-6666-01A-11D-1893-08		16258985	232991636	1	701											
HIST2H3D	653604	broad.mit.edu	37	1	149785210	149785210	+	Silent	SNP	G	G	C			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr1:149785210G>C	ENST00000331491.1	-	1	26	c.27C>G	c.(25-27)cgC>cgG	p.R9R		NM_001123375.2	NP_001116847.1	Q71DI3	H32_HUMAN	histone cluster 2, H3d	9					blood coagulation|nucleosome assembly	nucleoplasm|nucleosome	DNA binding|protein binding			biliary_tract(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(3)	7						CGGTCGACTTGCGGGCAGTCT	0.602													4	95					0	0	0.001168	0	0	C	149785210	G	C	149785210	2	2	16	1	0	0	0	0	0	0	0	1	7222	1306	46	5		5	HIST2H3D	1	149785210	Silent	SNP	G	TCGA-CS-6666-01A-11D-1893-08	133526225	149785210	99465411	2	702											
HRNR	388697	broad.mit.edu	37	1	152192979	152192979	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr1:152192979G>A	ENST00000368801.2	-	3	1201	c.1126C>T	c.(1126-1128)Caa>Taa	p.Q376*	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	376			Q -> R (in dbSNP:rs6587649).		keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GATCCATGTTGTCCCTGGCTA	0.557													7	208					0	0	0.001984	0	0	A	152192979	G	A	152192979	4	1	16	1	0	0	0	0	0	1	0	0	7400	1386	48	2	7430	2	HRNR	1	152192979	Nonsense_Mutation	SNP	G	TCGA-CS-6666-01A-11D-1893-08	2407769	152192979	97057642	3	703											
ASTN1	460	broad.mit.edu	37	1	176934329	176934329	+	Missense_Mutation	SNP	A	A	C			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr1:176934329A>C	ENST00000367654.3	-	9	1803	c.1592T>G	c.(1591-1593)tTg>tGg	p.L531W	ASTN1_ENST00000361833.2_Missense_Mutation_p.L523W|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000367657.3_Missense_Mutation_p.L523W|ASTN1_ENST00000424564.2_Missense_Mutation_p.L523W	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1						cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						CTGCTCTCCCAAAACCAGGTC	0.423													3	161					0	0	0.000248	0	0	C	176934329	A	C	176934329	3	2	16	1	0	0	0	0	1	0	0	0	1063	131	5	5	2380	5	ASTN1	1	176934329	Missense_Mutation	SNP	A	TCGA-CS-6666-01A-11D-1893-08	24741350	176934329	72316292	4	704											
PTPN14	5784	broad.mit.edu	37	1	214625279	214625279	+	Missense_Mutation	SNP	C	C	G			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr1:214625279C>G	ENST00000366956.5	-	3	407	c.213G>C	c.(211-213)caG>caC	p.Q71H	PTPN14_ENST00000543945.1_Missense_Mutation_p.Q71H	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14	71	FERM.				lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding			NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		ATCGTGCTTGCTGGCTCTTGC	0.458													8	120					0	0	0.008291	0	0	G	214625279	C	G	214625279	3	3	16	1	0	0	0	0	1	0	0	0	12833	796	28	4	3418	4	PTPN14	1	214625279	Missense_Mutation	SNP	C	TCGA-CS-6666-01A-11D-1893-08	37690950	214625279	34625342	5	705											
USH2A	7399	broad.mit.edu	37	1	215847818	215847818	+	Missense_Mutation	SNP	G	G	C			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr1:215847818G>C	ENST00000366943.2	-	63	13821	c.13435C>G	c.(13435-13437)Ctt>Gtt	p.L4479V	USH2A_ENST00000307340.3_Missense_Mutation_p.L4479V			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4479	Fibronectin type-III 30.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TCCCTCCTAAGTTCATAACTT	0.448										HNSCC(13;0.011)			6	296					0	0	0.001168	0	0	C	215847818	G	C	215847818	3	2	16	1	0	0	0	0	1	0	0	0	17096	1029	36	4	2213	4	USH2A	1	215847818	Missense_Mutation	SNP	G	TCGA-CS-6666-01A-11D-1893-08	1222539	215847818	33402803	6	706											
TGFB2	7042	broad.mit.edu	37	1	218609384	218609384	+	Missense_Mutation	SNP	G	G	T			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr1:218609384G>T	ENST00000366929.4	+	6	1378	c.911G>T	c.(910-912)gGg>gTg	p.G304V	TGFB2_ENST00000366930.4_Missense_Mutation_p.G276V|TGFB2_ENST00000479322.1_3'UTR	NM_001135599.2	NP_001129071.1	P61812	TGFB2_HUMAN	transforming growth factor, beta 2	276					activation of protein kinase activity|angiogenesis|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cardioblast differentiation|catagen|cell cycle arrest|cell death|cell growth|cell-cell junction organization|cell-cell signaling|collagen fibril organization|dopamine biosynthetic process|embryonic digestive tract development|eye development|glial cell migration|hair follicle morphogenesis|hemopoiesis|menstrual cycle phase|negative regulation of alkaline phosphatase activity|negative regulation of cell growth|negative regulation of epithelial cell proliferation|negative regulation of immune response|negative regulation of macrophage cytokine production|neuron development|neutrophil chemotaxis|odontogenesis|pathway-restricted SMAD protein phosphorylation|platelet activation|platelet degranulation|positive regulation of cardioblast differentiation|positive regulation of catagen|positive regulation of cell adhesion mediated by integrin|positive regulation of cell cycle|positive regulation of cell division|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of epithelial cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of heart contraction|positive regulation of immune response|positive regulation of integrin biosynthetic process|positive regulation of neuron apoptosis|positive regulation of ossification|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein secretion|positive regulation of stress-activated MAPK cascade|regulation of transforming growth factor-beta2 production|response to hypoxia|response to progesterone stimulus|salivary gland morphogenesis|SMAD protein import into nucleus|somatic stem cell division|transforming growth factor beta receptor signaling pathway	axon|extracellular matrix|extracellular space|neuronal cell body|platelet alpha granule lumen	beta-amyloid binding|cytokine activity|growth factor activity|protein heterodimerization activity|protein homodimerization activity|receptor signaling protein serine/threonine kinase activity|type II transforming growth factor beta receptor binding			breast(1)|endometrium(1)|large_intestine(11)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(1)	31				all cancers(67;0.0459)|OV - Ovarian serous cystadenocarcinoma(81;0.049)|GBM - Glioblastoma multiforme(131;0.0776)		AAAAACAGTGGGAAGACCCCA	0.448													5	98					1.23904e-05	2.17626e-05	0.000602	1	0	T	218609384	G	T	218609384	3	4	16	1	0	0	0	0	1	0	0	0	15878	1232	43	5	933	5	TGFB2	1	218609384	Missense_Mutation	SNP	G	TCGA-CS-6666-01A-11D-1893-08	2761566	218609384	30641237	7	707											
REL	5966	broad.mit.edu	37	2	61149057	61149057	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr2:61149057C>T	ENST00000295025.8	+	11	1567	c.1247C>T	c.(1246-1248)gCc>gTc	p.A416V	REL_ENST00000394479.3_Missense_Mutation_p.A384V	NM_002908.2	NP_002899.1	Q04864	REL_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog						positive regulation of I-kappaB kinase/NF-kappaB cascade	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|large_intestine(5)|lung(3)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	16	all_hematologic(2;0.0797)	Ovarian(717;0.0728)	LUSC - Lung squamous cell carcinoma(5;6.2e-08)|Lung(5;1.65e-06)|Epithelial(17;0.064)|all cancers(80;0.221)			TCATCAGTGGCCCACCCCACC	0.502			A		Hodgkin Lymphoma								10	79					0	0	0.001368	0	0	T	61149057	C	T	61149057	3	4	16	1	0	0	0	0	1	0	0	0	13267	739	26	2	1289	2	REL	2	61149057	Missense_Mutation	SNP	C	TCGA-CS-6666-01A-11D-1893-08		61149057	182050316	8	708											
LRP2	4036	broad.mit.edu	37	2	170048452	170048452	+	Silent	SNP	G	G	A			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr2:170048452G>A	ENST00000263816.3	-	48	9207	c.8922C>T	c.(8920-8922)ggC>ggT	p.G2974G		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2974	LDL-receptor class A 22.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	p.G2974G(1)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	AATCCACATCGCCATCACAGA	0.478													5	113					0	0	0.000602	0	0	A	170048452	G	A	170048452	2	1	16	1	0	0	0	0	0	0	0	1	9001	1074	38	1		1	LRP2	2	170048452	Silent	SNP	G	TCGA-CS-6666-01A-11D-1893-08	108899395	170048452	73150921	9	709											
DYNC1I2	1781	broad.mit.edu	37	2	172586272	172586272	+	Missense_Mutation	SNP	T	T	C			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr2:172586272T>C	ENST00000534253.2	+	15	1613	c.1445T>C	c.(1444-1446)aTc>aCc	p.I482T	DYNC1I2_ENST00000263811.4_Missense_Mutation_p.I476T|DYNC1I2_ENST00000358002.6_Missense_Mutation_p.I474T|DYNC1I2_ENST00000397119.3_Missense_Mutation_p.I482T|DYNC1I2_ENST00000409197.1_Missense_Mutation_p.I456T|DYNC1I2_ENST00000340296.4_Missense_Mutation_p.I456T|DYNC1I2_ENST00000508530.1_Missense_Mutation_p.I456T|DYNC1I2_ENST00000409773.1_Missense_Mutation_p.I482T|DYNC1I2_ENST00000409317.1_Missense_Mutation_p.I476T|DYNC1I2_ENST00000410079.3_Missense_Mutation_p.I474T|DYNC1I2_ENST00000409453.1_Missense_Mutation_p.I482T			Q13409	DC1I2_HUMAN	dynein, cytoplasmic 1, intermediate chain 2	482					G2/M transition of mitotic cell cycle|interspecies interaction between organisms|microtubule-based movement|transport	centrosome|cytosol|dynein complex|microtubule|vesicle	microtubule motor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)	15			OV - Ovarian serous cystadenocarcinoma(117;0.198)			ATCACTGGCATCCATTGTCAT	0.398													10	129					0	0	0.008291	0	0	C	172586272	T	C	172586272	3	2	16	1	0	0	0	0	1	0	0	0	4869	1435	50	3	1499	3	DYNC1I2	2	172586272	Missense_Mutation	SNP	T	TCGA-CS-6666-01A-11D-1893-08	2537820	172586272	70613101	10	710											
FSIP2	401024	broad.mit.edu	37	2	186670207	186670207	+	Missense_Mutation	SNP	T	T	C			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr2:186670207T>C	ENST00000343098.5	+	17	16441	c.16441T>C	c.(16441-16443)Ttc>Ctc	p.F5481L	FSIP2_ENST00000424728.1_Missense_Mutation_p.F5392L	NM_173651.2	NP_775922.2			fibrous sheath interacting protein 2											NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						AATATCTGCATTCAGGATTCA	0.378													5	125					0	0	0.001168	0	0	C	186670207	T	C	186670207	3	2	16	1	0	0	0	0	1	0	0	0	6110	1493	52	3	16507	3	FSIP2	2	186670207	Missense_Mutation	SNP	T	TCGA-CS-6666-01A-11D-1893-08	14083935	186670207	56529166	11	711											
HSPD1	3329	broad.mit.edu	37	2	198361940	198361940	+	Silent	SNP	A	A	G			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr2:198361940A>G	ENST00000388968.3	-	3	618	c.351T>C	c.(349-351)acT>acC	p.T117T	HSPD1_ENST00000544407.1_Silent_p.T117T|HSPD1_ENST00000345042.2_Silent_p.T117T	NM_002156.4	NP_002147.2	P10809	CH60_HUMAN	heat shock 60kDa protein 1 (chaperonin)	117					'de novo' protein folding|activation of caspase activity|B cell cytokine production|B cell proliferation|chaperone-mediated protein complex assembly|interspecies interaction between organisms|isotype switching to IgG isotypes|MyD88-dependent toll-like receptor signaling pathway|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of interferon-alpha production|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of macrophage activation|positive regulation of T cell activation|positive regulation of T cell mediated immune response to tumor cell|protein maturation|protein refolding|protein stabilization|response to unfolded protein|T cell activation	cell surface|coated pit|coated vesicle|cytosol|early endosome|extracellular space|lipopolysaccharide receptor complex|mitochondrial inner membrane|mitochondrial matrix|stored secretory granule	ATP binding|ATPase activity|cell surface binding|chaperone binding|DNA replication origin binding|lipopolysaccharide binding|p53 binding|single-stranded DNA binding			NS(1)|breast(3)|endometrium(2)|large_intestine(3)|lung(7)|skin(1)	17			Epithelial(96;0.225)			GTGCCAGTACAGTAGCAGTGG	0.423													4	131					0	0	0.000248	0	0	G	198361940	A	G	198361940	2	3	16	1	0	0	0	0	0	0	0	1	7472	175	7	3		3	HSPD1	2	198361940	Silent	SNP	A	TCGA-CS-6666-01A-11D-1893-08	11691733	198361940	44837433	12	712											
NBEAL1	65065	broad.mit.edu	37	2	204003429	204003429	+	Missense_Mutation	SNP	G	G	C			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr2:204003429G>C	ENST00000449802.1	+	30	5052	c.4719G>C	c.(4717-4719)caG>caC	p.Q1573H		NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1	1573							binding			NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						CTCAAATTCAGATCCAGTTGC	0.373													22	210					0	0	0.00333	0	0	C	204003429	G	C	204003429	3	2	16	1	0	0	0	0	1	0	0	0	10236	933	33	4	4833	4	NBEAL1	2	204003429	Missense_Mutation	SNP	G	TCGA-CS-6666-01A-11D-1893-08	5641489	204003429	39195944	13	713											
NDUFS1	4719	broad.mit.edu	37	2	206991481	206991481	+	Missense_Mutation	SNP	C	C	G			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr2:206991481C>G	ENST00000233190.6	-	17	2238	c.1972G>C	c.(1972-1974)Gat>Cat	p.D658H	NDUFS1_ENST00000423725.1_Missense_Mutation_p.D601H|NDUFS1_ENST00000455934.2_Missense_Mutation_p.D672H|NDUFS1_ENST00000457011.1_Missense_Mutation_p.D542H|NDUFS1_ENST00000440274.1_Missense_Mutation_p.D622H|NDUFS1_ENST00000432169.1_Missense_Mutation_p.D547H|NDUFS1_ENST00000449699.1_Missense_Mutation_p.D658H	NM_005006.6	NP_004997.4	P28331	NDUS1_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase)						apoptosis|ATP metabolic process|mitochondrial electron transport, NADH to ubiquinone|reactive oxygen species metabolic process|regulation of mitochondrial membrane potential|transport	mitochondrial intermembrane space|mitochondrial respiratory chain complex I	2 iron, 2 sulfur cluster binding|4 iron, 4 sulfur cluster binding|electron carrier activity|metal ion binding|NADH dehydrogenase (ubiquinone) activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(15)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					NADH(DB00157)	CCTTCAATATCATCATATCGA	0.393													16	161					0	0	0.00499	0	0	G	206991481	C	G	206991481	3	3	16	1	0	0	0	0	1	0	0	0	10338	826	29	5	223	5	NDUFS1	2	206991481	Missense_Mutation	SNP	C	TCGA-CS-6666-01A-11D-1893-08	2988052	206991481	36207892	14	714											
IDH1	3417	broad.mit.edu	37	2	209113113	209113113	+	Missense_Mutation	SNP	G	G	A	rs121913499		TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr2:209113113G>A	ENST00000415913.1	-	4	775	c.394C>T	c.(394-396)Cgt>Tgt	p.R132C	IDH1_ENST00000446179.1_Missense_Mutation_p.R132C|IDH1_ENST00000345146.2_Missense_Mutation_p.R132C	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		TAAGCATGACGACCTATGATG	0.398			Mis		gliobastoma								44	65					0	0	0.00361	0	0	A	209113113	G	A	209113113	3	1	16	1	0	0	0	0	1	0	0	0	7538	1058	37	1	878	1	IDH1	2	209113113	Missense_Mutation	SNP	G	TCGA-CS-6666-01A-11D-1893-08	2121632	209113113	34086260	15	715											
VIL1	7429	broad.mit.edu	37	2	219299321	219299321	+	Missense_Mutation	SNP	G	G	A			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr2:219299321G>A	ENST00000248444.5	+	14	1661	c.1573G>A	c.(1573-1575)Gcc>Acc	p.A525T	VIL1_ENST00000392114.2_Missense_Mutation_p.A214T	NM_007127.2	NP_009058.2	P09327	VILI_HUMAN	villin 1	525	Core.				actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium	actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle	actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Renal(207;0.0474)		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGGAACTGGCGCCAACAACAC	0.572													64	74					0	0	0.00361	0	0	A	219299321	G	A	219299321	3	1	16	1	0	0	0	0	1	0	0	0	17224	1087	38	1	1623	1	VIL1	2	219299321	Missense_Mutation	SNP	G	TCGA-CS-6666-01A-11D-1893-08	10186208	219299321	23900052	16	716											
DYNC1LI1	51143	broad.mit.edu	37	3	32571802	32571802	+	Missense_Mutation	SNP	G	G	A			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr3:32571802G>A	ENST00000273130.4	-	10	1262	c.1159C>T	c.(1159-1161)Cca>Tca	p.P387S	DYNC1LI1_ENST00000432458.2_Missense_Mutation_p.P271S	NM_016141.3	NP_057225.2	Q9Y6G9	DC1L1_HUMAN	dynein, cytoplasmic 1, light intermediate chain 1	387					cell division|interspecies interaction between organisms|mitosis|positive regulation of mitotic cell cycle spindle assembly checkpoint|transport	centrosome|condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|plasma membrane|spindle pole	ATP binding|motor activity			kidney(2)|large_intestine(1)|lung(3)|ovary(1)	7						GCAGTTGGTGGTTGCTTTGCT	0.284													3	33					0	0	0.000248	0	0	A	32571802	G	A	32571802	3	1	16	1	0	0	0	0	1	0	0	0	4870	1261	44	2	428	2	DYNC1LI1	3	32571802	Missense_Mutation	SNP	G	TCGA-CS-6666-01A-11D-1893-08		32571802	165450628	17	717											
C4orf40	401137	broad.mit.edu	37	4	71024317	71024318	+	Frame_Shift_Ins	INS	-	-	T	rs148239542		TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr4:71024317_71024318insT	ENST00000344526.5	+	3	537_538	c.348_349insT	c.(349-351)tttfs	p.F117fs	C4orf40_ENST00000502294.1_Frame_Shift_Ins_p.F117fs|C4orf40_ENST00000502441.2_3'UTR	NM_214711.3	NP_999876.2	Q6MZM9	CD040_HUMAN	chromosome 4 open reading frame 40	117						extracellular region				breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						CTCCTTCAAGGTTTTTTTCAGC	0.55													8	378	---	---	---	---						T	71024318	-	T	71024317	7	5	16	1	0	1	1	0	0	0	0	0	2284	1252	44	0	358	0	C4orf40	4	71024317	Frame_Shift_Ins	INS	-	TCGA-CS-6666-01A-11D-1893-08		71024317	120129959	18	718											
SHROOM3	57619	broad.mit.edu	37	4	77660239	77660239	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr4:77660239C>T	ENST00000296043.6	+	5	1866	c.913C>T	c.(913-915)Cgc>Tgc	p.R305C		NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	305					apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			GGCAGATATTCGCTATGTCAA	0.577													6	142					0	0	0.00308	0	0	T	77660239	C	T	77660239	3	4	16	1	0	0	0	0	1	0	0	0	14350	884	31	1	931	1	SHROOM3	4	77660239	Missense_Mutation	SNP	C	TCGA-CS-6666-01A-11D-1893-08	6635922	77660239	113494037	19	719											
MAB21L2	10586	broad.mit.edu	37	4	151505024	151505024	+	Missense_Mutation	SNP	G	G	C			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr4:151505024G>C	ENST00000317605.4	+	1	1948	c.843G>C	c.(841-843)gaG>gaC	p.E281D	LRBA_ENST00000535741.1_Intron|LRBA_ENST00000510413.1_Intron|LRBA_ENST00000507224.1_Intron|LRBA_ENST00000357115.3_Intron	NM_006439.4	NP_006430.1	Q9Y586	MB212_HUMAN	mab-21-like 2 (C. elegans)	281					nervous system development	nucleus				breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(2)	21	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.159)		TGCTGTACGAGTGCGAGAAAC	0.627													7	58					0	0	0.006214	0	0	C	151505024	G	C	151505024	3	2	16	1	0	0	0	0	1	0	0	0	9188	1020	36	4	845	4	MAB21L2	4	151505024	Missense_Mutation	SNP	G	TCGA-CS-6666-01A-11D-1893-08	73844785	151505024	39649252	20	720											
CTSO	1519	broad.mit.edu	37	4	156847189	156847189	+	Nonstop_Mutation	SNP	C	C	G			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr4:156847189C>G	ENST00000433477.3	-	8	1034	c.965G>C	c.(964-966)tGa>tCa	p.*322S		NM_001334.2	NP_001325.1	P43234	CATO_HUMAN	cathepsin O	0					proteolysis	lysosome	cysteine-type endopeptidase activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(3)|prostate(1)	16	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.05)|Kidney(143;0.0627)|COAD - Colon adenocarcinoma(41;0.148)		CCCAACATGTCACACAAATAT	0.308													8	26					0	0	0.004482	0	0	G	156847189	C	G	156847189	4	3	16	1	0	0	0	0	0	0	0	0	4064	837	29	5	4	5	CTSO	4	156847189	Nonstop_Mutation	SNP	C	TCGA-CS-6666-01A-11D-1893-08	5342165	156847189	34307087	21	721											
PALLD	23022	broad.mit.edu	37	4	169432972	169432972	+	Missense_Mutation	SNP	C	C	A			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr4:169432972C>A	ENST00000261509.6	+	2	528	c.317C>A	c.(316-318)gCa>gAa	p.A106E	PALLD_ENST00000505667.1_Missense_Mutation_p.A106E|PALLD_ENST00000333488.4_5'UTR|PALLD_ENST00000335742.7_5'UTR	NM_001166108.1|NM_016081.3	NP_001159580.1|NP_057165.3	Q8WX93	PALLD_HUMAN	palladin, cytoskeletal associated protein	106					cytoskeleton organization	actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere	actin binding|muscle alpha-actinin binding			breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)		CAGCCTCTGGCAGAGAAACAA	0.527									Pancreatic Cancer, Familial Clustering of				3	37					0.004672	0.0080008	0.004672	1	0	A	169432972	C	A	169432972	3	1	16	1	0	0	0	0	1	0	0	0	11454	710	25	5	319	5	PALLD	4	169432972	Missense_Mutation	SNP	C	TCGA-CS-6666-01A-11D-1893-08	12585783	169432972	21721304	22	722											
DNAH5	1767	broad.mit.edu	37	5	13769245	13769245	+	Splice_Site	SNP	C	C	G			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr5:13769245C>G	ENST00000265104.4	-	58	9825	c.9721G>C	c.(9721-9723)Gtc>Ctc	p.V3241L	DNAH5_ENST00000504001.3_5'UTR	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3241	Stalk (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TCTTTTAAGACCTAATTCAAT	0.413									Kartagener syndrome				68	220					0	0	0.00361	0	0	G	13769245	C	G	13769245	5	3	16	1	0	0	0	0	0	0	1	0	4632	521	18	5	4241	5	DNAH5	5	13769245	Splice_Site	SNP	C	TCGA-CS-6666-01A-11D-1893-08		13769245	167146015	23	723											
ANKHD1	54882	broad.mit.edu	37	5	139866584	139866584	+	Silent	SNP	T	T	A			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr5:139866584T>A	ENST00000297183.6	+	14	2308	c.2184T>A	c.(2182-2184)ccT>ccA	p.P728P	ANKHD1-EIF4EBP3_ENST00000532219.1_Silent_p.P728P|ANKHD1_ENST00000360839.2_Silent_p.P728P	NM_020690.5	NP_065741.3			ankyrin repeat and KH domain containing 1											breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGTTGTACCTCCCCAGGAAC	0.403													4	63					0	0	0.000602	0	0	A	139866584	T	A	139866584	2	1	16	1	0	0	0	0	0	0	0	1	624	1538	54	5		5	ANKHD1	5	139866584	Silent	SNP	T	TCGA-CS-6666-01A-11D-1893-08	126097339	139866584	41048676	24	724											
GEMIN5	25929	broad.mit.edu	37	5	154307077	154307077	+	Silent	SNP	A	A	G			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr5:154307077A>G	ENST00000285873.7	-	7	1023	c.948T>C	c.(946-948)tcT>tcC	p.S316S		NM_001252156.1|NM_015465.4	NP_001239085.1|NP_056280.2	Q8TEQ6	GEMI5_HUMAN	gem (nuclear organelle) associated protein 5	316					ncRNA metabolic process|protein complex assembly|spliceosomal snRNP assembly	Cajal body|cytosol|spliceosomal complex	protein binding|snRNA binding			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TCCGTCTCCAAGATTGAGTGA	0.383													3	55					0	0	0.000248	0	0	G	154307077	A	G	154307077	2	3	16	1	0	0	0	0	0	0	0	1	6373	59	3	3		3	GEMIN5	5	154307077	Silent	SNP	A	TCGA-CS-6666-01A-11D-1893-08	14440493	154307077	26608183	25	725											
LRRC16A	55604	broad.mit.edu	37	6	25606448	25606448	+	Missense_Mutation	SNP	G	G	C			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr6:25606448G>C	ENST00000329474.6	+	35	4162	c.3794G>C	c.(3793-3795)aGt>aCt	p.S1265T		NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN	leucine rich repeat containing 16A	1265					actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process	cytosol|lamellipodium|nucleus				breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						CCCAAACCCAGTCTGGCAGCA	0.592													8	23					0	0	0.004482	0	0	C	25606448	G	C	25606448	3	2	16	1	0	0	0	0	1	0	0	0	9016	1029	36	4	3932	4	LRRC16A	6	25606448	Missense_Mutation	SNP	G	TCGA-CS-6666-01A-11D-1893-08		25606448	145508619	26	726											
HIST1H1B	3009	broad.mit.edu	37	6	27835109	27835109	+	Missense_Mutation	SNP	T	T	C			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr6:27835109T>C	ENST00000331442.3	-	1	250	c.199A>G	c.(199-201)Aag>Gag	p.K67E		NM_005322.2	NP_005313.1	P16401	H15_HUMAN	histone cluster 1, H1b	67	H15.				nucleosome assembly	nucleosome|nucleus	DNA binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(12)|prostate(2)|upper_aerodigestive_tract(2)	24						GCTAAGGCCTTCTTAAGGGCT	0.582													6	218					0	0	0.001984	0	0	C	27835109	T	C	27835109	3	2	16	1	0	0	0	0	1	0	0	0	7164	1792	62	3	485	3	HIST1H1B	6	27835109	Missense_Mutation	SNP	T	TCGA-CS-6666-01A-11D-1893-08	2228661	27835109	143279958	27	727											
OR12D2	26529	broad.mit.edu	37	6	29364925	29364925	+	Missense_Mutation	SNP	G	G	T			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr6:29364925G>T	ENST00000383555.2	+	1	510	c.449G>T	c.(448-450)gGt>gTt	p.G150V	OR5V1_ENST00000377154.1_Intron	NM_013936.3	NP_039224.2	P58182	O12D2_HUMAN	olfactory receptor, family 12, subfamily D, member 2 (gene/pseudogene)	150					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	31						TGGGTCATTGGTTTTTTCCAT	0.473													13	147					1.05317e-09	1.89848e-09	0.00245	1	0	T	29364925	G	T	29364925	3	4	16	1	0	0	0	0	1	0	0	0	10979	1261	44	5	451	5	OR12D2	6	29364925	Missense_Mutation	SNP	G	TCGA-CS-6666-01A-11D-1893-08	1529816	29364925	141750142	28	728											
LTA	4049	broad.mit.edu	37	6	31541359	31541359	+	Silent	SNP	C	C	T			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr6:31541359C>T	ENST00000454783.1	+	4	765	c.507C>T	c.(505-507)caC>caT	p.H169H	LTA_ENST00000418386.2_Silent_p.H169H	NM_001159740.2	NP_001153212.1	P01374	TNFB_HUMAN	lymphotoxin alpha	169					cell-cell signaling|induction of apoptosis|signal transduction	extracellular space|membrane	cytokine activity|tumor necrosis factor receptor binding			endometrium(2)|kidney(2)|lung(4)|upper_aerodigestive_tract(1)	9					Etanercept(DB00005)	CGATGTACCACGGGGCTGCGT	0.592													6	235					0	0	0.001168	0	0	T	31541359	C	T	31541359	2	4	16	1	0	0	0	0	0	0	0	1	9113	535	19	1		1	LTA	6	31541359	Silent	SNP	C	TCGA-CS-6666-01A-11D-1893-08	2176434	31541359	139573708	29	729											
CLIC1	1192	broad.mit.edu	37	6	31698750	31698750	+	Missense_Mutation	SNP	T	T	C			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr6:31698750T>C	ENST00000375780.2	-	7	1167	c.595A>G	c.(595-597)Atc>Gtc	p.I199V	CLIC1_ENST00000375779.2_Missense_Mutation_p.I199V|CLIC1_ENST00000375784.3_Missense_Mutation_p.I199V|CLIC1_ENST00000395892.1_Missense_Mutation_p.I199V			O00299	CLIC1_HUMAN	chloride intracellular channel 1	199	GST C-terminal.				signal transduction	brush border|chloride channel complex|cytoplasm|membrane fraction|nuclear membrane|plasma membrane|soluble fraction	protein binding|voltage-gated chloride channel activity			central_nervous_system(1)|endometrium(1)|lung(3)|ovary(1)|skin(1)	7						GCCTCGGGGATGGTGAATCCC	0.582													20	35					0	0	0.007413	0	0	C	31698750	T	C	31698750	3	2	16	1	0	0	0	0	1	0	0	0	3548	1464	51	3	134	3	CLIC1	6	31698750	Missense_Mutation	SNP	T	TCGA-CS-6666-01A-11D-1893-08	157391	31698750	139416317	30	730											
BTNL2	56244	broad.mit.edu	37	6	32370727	32370727	+	Missense_Mutation	SNP	C	C	T	rs79379254		TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr6:32370727C>T	ENST00000454136.3	-	3	698	c.694G>A	c.(694-696)Gtc>Atc	p.V232I	BTNL2_ENST00000540315.1_Intron|BTNL2_ENST00000429232.2_Intron|BTNL2_ENST00000374995.3_Intron|BTNL2_ENST00000374993.1_Missense_Mutation_p.V232I|BTNL2_ENST00000544175.1_Intron|BTNL2_ENST00000414363.1_Intron			Q9UIR0	BTNL2_HUMAN	butyrophilin-like 2 (MHC class II associated)	232	Ig-like V-type 2.					integral to membrane				central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)|urinary_tract(1)	19						AGGCTGATGACCGACCCCTTC	0.582													23	22					0	0	0.002299	0	0	T	32370727	C	T	32370727	3	4	16	1	0	0	0	0	1	0	0	0	1568	507	18	2	689	2	BTNL2	6	32370727	Missense_Mutation	SNP	C	TCGA-CS-6666-01A-11D-1893-08	671977	32370727	138744340	31	731											
HSP90AB1	3326	broad.mit.edu	37	6	44220940	44220940	+	Silent	SNP	T	T	C	rs61753593		TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr6:44220940T>C	ENST00000371554.1	+	11	2104	c.1890T>C	c.(1888-1890)ccT>ccC	p.P630P	HSP90AB1_ENST00000371646.5_Silent_p.P630P|HSP90AB1_ENST00000353801.3_Silent_p.P630P			P08238	HS90B_HUMAN	heat shock protein 90kDa alpha (cytosolic), class B member 1	630					axon guidance|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of nitric oxide biosynthetic process|protein folding|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to unfolded protein	cytosol|melanosome	ATP binding|nitric-oxide synthase regulator activity|TPR domain binding|unfolded protein binding			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(12)|prostate(2)|skin(2)|urinary_tract(2)	33	all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			AGATCAACCCTGACCACCCCA	0.557													4	223					0	0	0.000602	0	0	C	44220940	T	C	44220940	2	2	16	1	0	0	0	0	0	0	0	1	7445	1567	55	3		3	HSP90AB1	6	44220940	Silent	SNP	T	TCGA-CS-6666-01A-11D-1893-08	11850213	44220940	126894127	32	732											
ENPP5	59084	broad.mit.edu	37	6	46129357	46129357	+	Silent	SNP	G	G	A			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr6:46129357G>A	ENST00000371383.2	-	5	1400	c.1140C>T	c.(1138-1140)ctC>ctT	p.L380L	ENPP5_ENST00000230565.3_Silent_p.L380L			Q9UJA9	ENPP5_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 5 (putative)	380						extracellular region|integral to membrane	hydrolase activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	12						TGATATTGAGGAGGTGGCATA	0.443													24	336					0	0	0.00632	0	0	A	46129357	G	A	46129357	2	1	16	1	0	0	0	0	0	0	0	1	5161	1161	41	2		2	ENPP5	6	46129357	Silent	SNP	G	TCGA-CS-6666-01A-11D-1893-08	1908417	46129357	124985710	33	733											
GPR116	221395	broad.mit.edu	37	6	46834708	46834708	+	Silent	SNP	T	T	C			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr6:46834708T>C	ENST00000283296.7	-	13	2076	c.1788A>G	c.(1786-1788)ggA>ggG	p.G596G	GPR116_ENST00000362015.4_Silent_p.G596G|GPR116_ENST00000545669.1_Silent_p.G25G|GPR116_ENST00000456426.2_Silent_p.G454G|GPR116_ENST00000265417.7_Silent_p.G596G	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	596					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			CTTTGTAGTCTCCATCCTCCT	0.448													3	88					0	0	0.004672	0	0	C	46834708	T	C	46834708	2	2	16	1	0	0	0	0	0	0	0	1	6673	1538	54	3		3	GPR116	6	46834708	Silent	SNP	T	TCGA-CS-6666-01A-11D-1893-08	705351	46834708	124280359	34	734											
IKZF1	10320	broad.mit.edu	37	7	50444275	50444275	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr7:50444275C>T	ENST00000331340.3	+	4	360	c.205C>T	c.(205-207)Cgt>Tgt	p.R69C	IKZF1_ENST00000357364.4_Missense_Mutation_p.R69C|IKZF1_ENST00000349824.4_Missense_Mutation_p.R69C|IKZF1_ENST00000438033.1_Intron|IKZF1_ENST00000439701.1_Missense_Mutation_p.R69C|IKZF1_ENST00000346667.4_Intron|IKZF1_ENST00000440768.2_Missense_Mutation_p.R69C|IKZF1_ENST00000359197.5_Missense_Mutation_p.R69C|IKZF1_ENST00000343574.5_Intron	NM_001220769.1|NM_001220772.1|NM_001220773.1|NM_001220775.1|NM_006060.4	NP_001207698.1|NP_001207701.1|NP_001207702.1|NP_001207704.1|NP_006051.1	Q13422	IKZF1_HUMAN	IKAROS family zinc finger 1 (Ikaros)	69					cell cycle|chromatin modification|mesoderm development	cytoplasm|nucleus	zinc ion binding	p.?(131)		haematopoietic_and_lymphoid_tissue(275)|lung(1)	276	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)				AGAGAATGGGCGTGCCTGTGA	0.458			"D,T"	BCL6	"ALL, DLBCL"								6	173					0	0	0.001168	0	0	T	50444275	C	T	50444275	3	4	16	1	0	0	0	0	1	0	0	0	7658	768	27	1	215	1	IKZF1	7	50444275	Missense_Mutation	SNP	C	TCGA-CS-6666-01A-11D-1893-08		50444275	108694388	35	735											
ABCB1	5243	broad.mit.edu	37	7	87183089	87183089	+	Silent	SNP	T	T	C			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr7:87183089T>C	ENST00000265724.3	-	10	1404	c.987A>G	c.(985-987)ggA>ggG	p.G329G	ABCB1_ENST00000543898.1_Silent_p.G265G	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	329	ABC transmembrane type-1 1.				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	TGAGTACTTGTCCAATAGAAT	0.378													46	64					0	0	0.00361	0	0	C	87183089	T	C	87183089	2	2	16	1	0	0	0	0	0	0	0	1	40	1654	58	3		3	ABCB1	7	87183089	Silent	SNP	T	TCGA-CS-6666-01A-11D-1893-08	36738814	87183089	71955574	36	736											
ZNF800	168850	broad.mit.edu	37	7	127014981	127014981	+	Missense_Mutation	SNP	C	C	G			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr7:127014981C>G	ENST00000393313.1	-	5	1000	c.409G>C	c.(409-411)Gaa>Caa	p.E137Q	ZNF800_ENST00000265827.3_Missense_Mutation_p.E137Q|ZNF800_ENST00000393312.1_Missense_Mutation_p.E137Q			Q2TB10	ZN800_HUMAN	zinc finger protein 800	137					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(8)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	32						TGATTAGTTTCTATGGGTTCT	0.348													4	83					0	0	0.000248	0	0	G	127014981	C	G	127014981	3	3	16	1	0	0	0	0	1	0	0	0	18218	922	32	4	1593	4	ZNF800	7	127014981	Missense_Mutation	SNP	C	TCGA-CS-6666-01A-11D-1893-08	39831892	127014981	32123682	37	737											
TAS2R4	50832	broad.mit.edu	37	7	141478489	141478489	+	Missense_Mutation	SNP	C	C	G			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr7:141478489C>G	ENST00000247881.2	+	1	248	c.201C>G	c.(199-201)atC>atG	p.I67M	SSBP1_ENST00000465582.1_Intron	NM_016944.1	NP_058640.1	Q9NYW5	TA2R4_HUMAN	taste receptor, type 2, member 4	67					sensory perception of taste	cilium membrane	taste receptor activity			endometrium(1)|large_intestine(4)|lung(2)	7	Melanoma(164;0.0171)			BRCA - Breast invasive adenocarcinoma(188;0.196)		TGAACACCATCTACTTCGTCT	0.443													19	244					0	0	0.007413	0	0	G	141478489	C	G	141478489	3	3	16	1	0	0	0	0	1	0	0	0	15634	903	32	4	203	4	TAS2R4	7	141478489	Missense_Mutation	SNP	C	TCGA-CS-6666-01A-11D-1893-08	14463508	141478489	17660174	38	738											
PURG	29942	broad.mit.edu	37	8	30889490	30889490	+	Missense_Mutation	SNP	T	T	C			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr8:30889490T>C	ENST00000475541.1	-	1	1741	c.809A>G	c.(808-810)gAc>gGc	p.D270G	PURG_ENST00000339382.2_Missense_Mutation_p.D270G	NM_013357.2	NP_037489.1	Q9UJV8	PURG_HUMAN	purine-rich element binding protein G	270						nucleus	DNA binding			endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(542;0.0895)|Kidney(114;0.108)		CCTTTTATTGTCCACTCTGAA	0.438													57	56					0	0	0.00361	0	0	C	30889490	T	C	30889490	3	2	16	1	0	0	0	0	1	0	0	0	12881	1667	58	3	347	3	PURG	8	30889490	Missense_Mutation	SNP	T	TCGA-CS-6666-01A-11D-1893-08		30889490	115474532	39	739											
CSMD3	114788	broad.mit.edu	37	8	113326251	113326252	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr8:113326251_113326252insA	ENST00000297405.5	-	49	7823_7824	c.7579_7580insT	c.(7579-7581)tccfs	p.S2527fs	CSMD3_ENST00000352409.3_Frame_Shift_Ins_p.S2457fs|CSMD3_ENST00000343508.3_Frame_Shift_Ins_p.S2487fs|CSMD3_ENST00000455883.2_Frame_Shift_Ins_p.S2423fs	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2527	CUB 14.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CCCACTGAGGGAAATAAGCACT	0.317										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			11	259	---	---	---	---						A	113326252	-	A	113326251	7	5	16	1	0	1	1	0	0	0	0	0	3971	1174	41	0	3635	0	CSMD3	8	113326251	Frame_Shift_Ins	INS	-	TCGA-CS-6666-01A-11D-1893-08	82436761	113326251	33037771	40	740											
CSMD3	114788	broad.mit.edu	37	8	113697824	113697824	+	Missense_Mutation	SNP	C	C	G			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr8:113697824C>G	ENST00000297405.5	-	15	2537	c.2293G>C	c.(2293-2295)Gac>Cac	p.D765H	CSMD3_ENST00000343508.3_Missense_Mutation_p.D725H|CSMD3_ENST00000455883.2_Missense_Mutation_p.D661H|CSMD3_ENST00000352409.3_Missense_Mutation_p.D765H	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	765	CUB 4.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AGGTCAAAGTCATTGAAAGAA	0.433										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			6	312					0	0	0.00308	0	0	G	113697824	C	G	113697824	3	3	16	1	0	0	0	0	1	0	0	0	3971	826	29	5	9058	5	CSMD3	8	113697824	Missense_Mutation	SNP	C	TCGA-CS-6666-01A-11D-1893-08	371573	113697824	32666198	41	741											
CSMD3	114788	broad.mit.edu	37	8	113697870	113697870	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr8:113697870C>T	ENST00000297405.5	-	15	2491	c.2247G>A	c.(2245-2247)tgG>tgA	p.W749*	CSMD3_ENST00000343508.3_Nonsense_Mutation_p.W709*|CSMD3_ENST00000455883.2_Nonsense_Mutation_p.W645*|CSMD3_ENST00000352409.3_Nonsense_Mutation_p.W749*	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	749	CUB 4.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AGATTATCGTCCAGATGCAAT	0.423										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			5	315					0	0	0.001984	0	0	T	113697870	C	T	113697870	4	4	16	1	0	0	0	0	0	1	0	0	3971	856	30	2	9104	2	CSMD3	8	113697870	Nonsense_Mutation	SNP	C	TCGA-CS-6666-01A-11D-1893-08	46	113697870	32666152	42	742											
ASAP1	50807	broad.mit.edu	37	8	131127907	131127907	+	Missense_Mutation	SNP	C	C	G			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr8:131127907C>G	ENST00000357668.1	-	22	2166	c.2139G>C	c.(2137-2139)gaG>gaC	p.E713D	ASAP1_ENST00000518721.1_Missense_Mutation_p.E713D			Q9ULH1	ASAP1_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	713					cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						TCTCATCTATCTCCTCCTGTC	0.433													7	946					0	0	0.001168	0	0	G	131127907	C	G	131127907	3	3	16	1	0	0	0	0	1	0	0	0	1009	912	32	4	1282	4	ASAP1	8	131127907	Missense_Mutation	SNP	C	TCGA-CS-6666-01A-11D-1893-08	17430037	131127907	15236115	43	743											
PLAA	9373	broad.mit.edu	37	9	26905915	26905915	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr9:26905915C>T	ENST00000397292.3	-	14	2399	c.1982G>A	c.(1981-1983)aGg>aAg	p.R661K		NM_001031689.2	NP_001026859.1	Q9Y263	PLAP_HUMAN	phospholipase A2-activating protein	661	PUL.				phospholipid metabolic process|signal transduction		phospholipase A2 activator activity			breast(1)|endometrium(7)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)	17		all_neural(3;3.53e-10)|Glioma(3;2.71e-09)		Lung(218;1.32e-05)|LUSC - Lung squamous cell carcinoma(38;0.00011)		GCAAAAAGTCCTGAGAGCAAG	0.458													6	62					0	0	0.001168	0	0	T	26905915	C	T	26905915	3	4	16	1	0	0	0	0	1	0	0	0	12059	681	24	2	409	2	PLAA	9	26905915	Missense_Mutation	SNP	C	TCGA-CS-6666-01A-11D-1893-08		26905915	114307516	44	744											
AKR1E2	83592	broad.mit.edu	37	10	4884665	4884665	+	Missense_Mutation	SNP	T	T	C			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr10:4884665T>C	ENST00000298375.7	+	8	877	c.806T>C	c.(805-807)aTc>aCc	p.I269T	AKR1E2_ENST00000532248.1_Missense_Mutation_p.I212T|AKR1E2_ENST00000525281.1_3'UTR|AKR1E2_ENST00000345253.5_Missense_Mutation_p.I171T|AKR1E2_ENST00000334019.4_Missense_Mutation_p.I212T	NM_001040177.2	NP_001035267.1	Q96JD6	AKCL2_HUMAN	aldo-keto reductase family 1, member E2	269						cytoplasm	1,5-anhydro-D-fructose reductase activity			NS(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)	15						CCCGGATCTATCACCCCAAGT	0.413													6	189					0	0	0.004482	0	0	C	4884665	T	C	4884665	3	2	16	1	0	0	0	0	1	0	0	0	471	1435	50	3	836	3	AKR1E2	10	4884665	Missense_Mutation	SNP	T	TCGA-CS-6666-01A-11D-1893-08		4884665	130650082	45	745											
PNLIPRP1	5407	broad.mit.edu	37	10	118351397	118351397	+	Missense_Mutation	SNP	G	G	A	rs115887041	by1000genomes	TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr10:118351397G>A	ENST00000528052.1	+	3	235	c.164G>A	c.(163-165)cGc>cAc	p.R55H	PNLIPRP1_ENST00000442761.1_Missense_Mutation_p.R55H|PNLIPRP1_ENST00000534537.1_Missense_Mutation_p.R55H|PNLIPRP1_ENST00000358834.4_Missense_Mutation_p.R55H|PNLIPRP1_ENST00000480870.2_3'UTR			P54315	LIPR1_HUMAN	pancreatic lipase-related protein 1	55					lipid metabolic process		calcium ion binding|triglyceride lipase activity			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	38				all cancers(201;0.0161)		ATCGGCACCCGCTTCCTGCTG	0.542													7	200					0	0	0.00308	0	0	A	118351397	G	A	118351397	3	1	16	1	0	0	0	0	1	0	0	0	12198	1087	38	1	170	1	PNLIPRP1	10	118351397	Missense_Mutation	SNP	G	TCGA-CS-6666-01A-11D-1893-08	113466732	118351397	17183350	46	746											
OR2AG1	144125	broad.mit.edu	37	11	6806340	6806340	+	Silent	SNP	T	T	C			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr11:6806340T>C	ENST00000307401.4	+	1	93	c.72T>C	c.(70-72)ccT>ccC	p.P24P		NM_001004489.2	NP_001004489.1	Q9H205	O2AG1_HUMAN	olfactory receptor, family 2, subfamily AG, member 1	24					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(13)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)		Epithelial(150;2.19e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		GTGGGTCTCCTGAACTGCTCT	0.498													8	201					0	0	0.006214	0	0	C	6806340	T	C	6806340	2	2	16	1	0	0	0	0	0	0	0	1	11032	1567	55	3		3	OR2AG1	11	6806340	Silent	SNP	T	TCGA-CS-6666-01A-11D-1893-08		6806340	128200176	47	747											
CD163	9332	broad.mit.edu	37	12	7649700	7649700	+	Missense_Mutation	SNP	C	C	A			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr12:7649700C>A	ENST00000359156.4	-	5	1010	c.808G>T	c.(808-810)Gat>Tat	p.D270Y	CD163_ENST00000432237.2_Missense_Mutation_p.D270Y|CD163_ENST00000396620.3_Missense_Mutation_p.D270Y|CD163_ENST00000541972.1_Missense_Mutation_p.D258Y	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	270	SRCR 3.	Cleavage; in calcium-free condition.			acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						GTGACTCCATCTACCAGTCTC	0.468													7	141					5.18039e-06	9.21706e-06	0.00308	1	0	A	7649700	C	A	7649700	3	1	16	1	0	0	0	0	1	0	0	0	2989	913	32	4	2710	4	CD163	12	7649700	Missense_Mutation	SNP	C	TCGA-CS-6666-01A-11D-1893-08		7649700	126202195	48	748											
PTPRB	5787	broad.mit.edu	37	12	70965783	70965783	+	Missense_Mutation	SNP	T	T	G			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr12:70965783T>G	ENST00000334414.6	-	12	2971	c.2927A>C	c.(2926-2928)gAc>gCc	p.D976A	PTPRB_ENST00000551525.1_Missense_Mutation_p.D975A|PTPRB_ENST00000261266.5_Missense_Mutation_p.D758A|PTPRB_ENST00000538708.1_Missense_Mutation_p.D758A|PTPRB_ENST00000550358.1_Missense_Mutation_p.D888A|PTPRB_ENST00000451516.2_Missense_Mutation_p.D668A|PTPRB_ENST00000550857.1_Missense_Mutation_p.D668A	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	758	Fibronectin type-III 11.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			GTGATCAAAGTCTCCAGTGGC	0.413													9	275					0	0	0.004482	0	0	G	70965783	T	G	70965783	3	3	16	1	0	0	0	0	1	0	0	0	12848	1667	58	5	3812	5	PTPRB	12	70965783	Missense_Mutation	SNP	T	TCGA-CS-6666-01A-11D-1893-08	63316083	70965783	62886112	49	749											
CMIP	80790	broad.mit.edu	37	16	81641214	81641214	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr16:81641214G>T	ENST00000537098.3	+	2	415	c.343G>T	c.(343-345)Gaa>Taa	p.E115*	CMIP_ENST00000539778.2_Nonsense_Mutation_p.E21*	NM_198390.2	NP_938204.2	Q8IY22	CMIP_HUMAN	c-Maf inducing protein	81	PH.					cytoplasm|nucleus				endometrium(5)|kidney(1)|lung(7)	13						CAGCGCAATTGAAGACGTTCA	0.463													10	201					9.70103e-10	1.77205e-09	0.008291	1	0	T	81641214	G	T	81641214	4	4	16	1	0	0	0	0	0	1	0	0	3601	1291	45	5	371	5	CMIP	16	81641214	Nonsense_Mutation	SNP	G	TCGA-CS-6666-01A-11D-1893-08		81641214	8713539	50	750											
TP53	7157	broad.mit.edu	37	17	7578406	7578406	+	Missense_Mutation	SNP	C	C	T	rs28934578		TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr17:7578406C>T	ENST00000420246.2	-	5	656	c.524G>A	c.(523-525)cGc>cAc	p.R175H	TP53_ENST00000455263.2_Missense_Mutation_p.R175H|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000413465.2_Missense_Mutation_p.R175H|TP53_ENST00000269305.4_Missense_Mutation_p.R175H|TP53_ENST00000445888.2_Missense_Mutation_p.R175H|TP53_ENST00000359597.4_Missense_Mutation_p.R175H	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	175	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> C (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; dbSNP:rs28934578).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> 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.R175H(847)|p.R43H(36)|p.R82H(36)|p.R175L(19)|p.0?(8)|p.R175P(6)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*5(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(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)		GTGGGGGCAGCGCCTCACAAC	0.652	R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY)	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)			26	55					0	0	0.005443	0	0	T	7578406	C	T	7578406	3	4	16	1	0	0	0	0	1	0	0	0	16442	768	27	1	774	1	TP53	17	7578406	Missense_Mutation	SNP	C	TCGA-CS-6666-01A-11D-1893-08		7578406	73616804	51	751											
TP53	7157	broad.mit.edu	37	17	7578467	7578467	+	Missense_Mutation	SNP	T	T	G			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr17:7578467T>G	ENST00000420246.2	-	5	595	c.463A>C	c.(463-465)Acc>Ccc	p.T155P	TP53_ENST00000455263.2_Missense_Mutation_p.T155P|TP53_ENST00000413465.2_Missense_Mutation_p.T155P|TP53_ENST00000269305.4_Missense_Mutation_p.T155P|TP53_ENST00000445888.2_Missense_Mutation_p.T155P|TP53_ENST00000359597.4_Missense_Mutation_p.T155P	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	155	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		T -> A (in sporadic cancers; somatic mutation).|T -> I (in sporadic cancers; somatic mutation).|T -> M (in a sporadic cancer; somatic mutation).|T -> N (in LFS; germline mutation and in sporadic cancers; somatic mutation).|T -> P (in sporadic cancers; somatic mutation).|T -> 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.T155P(17)|p.T155A(10)|p.0?(8)|p.?(5)|p.P152fs*14(5)|p.G154fs*14(2)|p.T155fs*23(2)|p.P153fs*22(2)|p.P151_V173del23(1)|p.G154_R156delGTR(1)|p.T155fs*26(1)|p.T155fs*25(1)|p.D148_T155delDSTPPPGT(1)|p.T62P(1)|p.T23P(1)|p.D148fs*23(1)|p.T62A(1)|p.T23A(1)|p.S149fs*72(1)|p.T155_A161delTRVRAMA(1)|p.G154fs*22(1)|p.T155fs*15(1)|p.T155_R156delTR(1)|p.T155S(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)		CGGACGCGGGTGCCGGGCGGG	0.612		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	40					0	0	0.00361	0	0	G	7578467	T	G	7578467	3	3	16	1	0	0	0	0	1	0	0	0	16442	1696	59	5	835	5	TP53	17	7578467	Missense_Mutation	SNP	T	TCGA-CS-6666-01A-11D-1893-08	61	7578467	73616743	52	752											
KRT33A	3883	broad.mit.edu	37	17	39502881	39502881	+	Missense_Mutation	SNP	G	G	A	rs148488457		TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr17:39502881G>A	ENST00000007735.3	-	6	960	c.916C>T	c.(916-918)Cgc>Tgc	p.R306C		NM_004138.3	NP_004129.2	O76009	KT33A_HUMAN	keratin 33A	306	Coil 2.|Rod.					intermediate filament	protein binding|structural molecule activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	21		Breast(137;0.000496)				GAGCTGTAGCGGGCCTCGCTC	0.587													6	83					0	0	0.001984	0	0	A	39502881	G	A	39502881	3	1	16	1	0	0	0	0	1	0	0	0	8512	1116	39	1	306	1	KRT33A	17	39502881	Missense_Mutation	SNP	G	TCGA-CS-6666-01A-11D-1893-08	31924414	39502881	41692329	53	753											
KRT33B	3884	broad.mit.edu	37	17	39520186	39520186	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr17:39520186C>T	ENST00000251646.3	-	7	1166	c.1117G>A	c.(1117-1119)Gcc>Acc	p.A373T		NM_002279.4	NP_002270.1	Q14525	KT33B_HUMAN	keratin 33B	373	Tail.					intermediate filament	protein binding|structural molecule activity			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(6)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000496)				TTGGTGGTGGCGCAGGGGTTG	0.522													8	113					0	0	0.00308	0	0	T	39520186	C	T	39520186	3	4	16	1	0	0	0	0	1	0	0	0	8513	768	27	1	101	1	KRT33B	17	39520186	Missense_Mutation	SNP	C	TCGA-CS-6666-01A-11D-1893-08	17305	39520186	41675024	54	754											
PRKCA	5578	broad.mit.edu	37	17	64734916	64734916	+	Missense_Mutation	SNP	G	G	C			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr17:64734916G>C	ENST00000413366.3	+	11	1291	c.1265G>C	c.(1264-1266)gGt>gCt	p.G422A		NM_002737.2	NP_002728	P17252	KPCA_HUMAN	protein kinase C, alpha	422	Protein kinase.				activation of phospholipase C activity|energy reserve metabolic process|induction of apoptosis by extracellular signals|intracellular signal transduction|mRNA metabolic process|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of blood vessel endothelial cell migration|regulation of insulin secretion|response to interleukin-1|synaptic transmission	cytosol|endoplasmic reticulum|membrane fraction|nucleoplasm|plasma membrane	ATP binding|enzyme binding|histone kinase activity (H3-T6 specific)|protein kinase C activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38			BRCA - Breast invasive adenocarcinoma(6;4.68e-09)		Phosphatidylserine(DB00144)|Vitamin E(DB00163)	TATGTCAACGGTGGGGACCTC	0.453													3	110					0	0	0.000248	0	0	C	64734916	G	C	64734916	3	2	16	1	0	0	0	0	1	0	0	0	12559	1261	44	5	1307	5	PRKCA	17	64734916	Missense_Mutation	SNP	G	TCGA-CS-6666-01A-11D-1893-08	25214730	64734916	16460294	55	755											
TAF4B	6875	broad.mit.edu	37	18	23865961	23865961	+	Missense_Mutation	SNP	C	C	G			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr18:23865961C>G	ENST00000269142.5	+	7	2086	c.1088C>G	c.(1087-1089)aCt>aGt	p.T363S	TAF4B_ENST00000400466.2_Missense_Mutation_p.T363S|TAF4B_ENST00000578121.1_Missense_Mutation_p.T363S	NM_005640.1	NP_005631.1	Q92750	TAF4B_HUMAN	TAF4b RNA polymerase II, TATA box binding protein (TBP)-associated factor, 105kDa	363					transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleolus|transcription factor TFIID complex	DNA binding|NF-kappaB binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|prostate(1)|skin(1)	29	all_cancers(21;0.00151)|Lung NSC(5;0.000401)|all_lung(6;0.00115)|Ovarian(20;0.124)		Epithelial(2;9.57e-07)|all cancers(3;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(3;1.96e-05)|LUSC - Lung squamous cell carcinoma(2;0.00594)|Lung(2;0.0267)			ACAGTAACAACTTCTCCTGTG	0.448													5	153					0	0	0.000602	0	0	G	23865961	C	G	23865961	3	3	16	1	0	0	0	0	1	0	0	0	15584	565	20	4	1114	4	TAF4B	18	23865961	Missense_Mutation	SNP	C	TCGA-CS-6666-01A-11D-1893-08		23865961	54211287	56	756											
DCC	1630	broad.mit.edu	37	18	51025871	51025871	+	Missense_Mutation	SNP	T	T	C			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr18:51025871T>C	ENST00000442544.2	+	27	4718	c.4102T>C	c.(4102-4104)Tct>Cct	p.S1368P	RP11-671P2.1_ENST00000582064.1_RNA|DCC_ENST00000581580.1_Missense_Mutation_p.S1001P	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	1368					apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		ACCACTTTTGTCTCAGCCAGG	0.443													80	109					0	0	0.00361	0	0	C	51025871	T	C	51025871	3	2	16	1	0	0	0	0	1	0	0	0	4305	1667	58	3	4208	3	DCC	18	51025871	Missense_Mutation	SNP	T	TCGA-CS-6666-01A-11D-1893-08	27159910	51025871	27051377	57	757											
MUC16	94025	broad.mit.edu	37	19	9058537	9058537	+	Missense_Mutation	SNP	A	A	G			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr19:9058537A>G	ENST00000397910.4	-	3	29112	c.28909T>C	c.(28909-28911)Tca>Cca	p.S9637P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9639	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ATGTCTAGTGACATTGTGGAC	0.498													4	96					0	0	0.000248	0	0	G	9058537	A	G	9058537	3	3	16	1	0	0	0	0	1	0	0	0	10021	275	10	3	14942	3	MUC16	19	9058537	Missense_Mutation	SNP	A	TCGA-CS-6666-01A-11D-1893-08		9058537	50070446	58	758											
KIF16B	55614	broad.mit.edu	37	20	16360692	16360692	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr20:16360692C>T	ENST00000354981.2	-	19	2112	c.1955G>A	c.(1954-1956)cGc>cAc	p.R652H	KIF16B_ENST00000378003.2_5'UTR|KIF16B_ENST00000355755.3_Missense_Mutation_p.R652H|KIF16B_ENST00000408042.1_Missense_Mutation_p.R652H	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	652	Glu-rich.				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						CTCCTGCTTGCGAATCTGGAG	0.522													11	181					0	0	0.000978	0	0	T	16360692	C	T	16360692	3	4	16	1	0	0	0	0	1	0	0	0	8320	768	27	1	2030	1	KIF16B	20	16360692	Missense_Mutation	SNP	C	TCGA-CS-6666-01A-11D-1893-08		16360692	46664828	59	759											
DEFB118	117285	broad.mit.edu	37	20	29956513	29956513	+	Splice_Site	SNP	T	T	C			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr20:29956513T>C	ENST00000253381.2	+	1	91		c.e1+2			NM_054112.2	NP_473453.1	Q96PH6	DB118_HUMAN	defensin, beta 118						cell-matrix adhesion|defense response to bacterium|innate immune response|spermatogenesis	extracellular region				breast(1)|endometrium(1)|lung(7)|ovary(3)|pancreas(1)|prostate(1)	14	all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			TGATCCCAGGTAATCAGAGGT	0.502													4	180					0	0	0.000248	0	0	C	29956513	T	C	29956513	5	2	16	1	0	0	0	0	0	0	1	0	4433	1652	57	3	62	3	DEFB118	20	29956513	Splice_Site	SNP	T	TCGA-CS-6666-01A-11D-1893-08	13595821	29956513	33069007	60	760											
DLGAP4	22839	broad.mit.edu	37	20	35152721	35152721	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr20:35152721C>T	ENST00000373913.3	+	11	3052	c.2572C>T	c.(2572-2574)Cgg>Tgg	p.R858W	DLGAP4_ENST00000373907.2_Missense_Mutation_p.R861W|DLGAP4_ENST00000401952.2_Missense_Mutation_p.R858W|RP5-977B1.7_ENST00000433238.1_RNA|DLGAP4_ENST00000475894.1_3'UTR|DLGAP4_ENST00000339266.5_Missense_Mutation_p.R861W|RP5-977B1.7_ENST00000439595.1_RNA|DLGAP4_ENST00000340491.4_Missense_Mutation_p.R322W			Q9Y2H0	DLGP4_HUMAN	discs, large (Drosophila) homolog-associated protein 4	861					cell-cell signaling	membrane	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				CCAGCAGTTCCGGGGCCTCTG	0.532													5	76					0	0	0.001168	0	0	T	35152721	C	T	35152721	3	4	16	1	0	0	0	0	1	0	0	0	4590	643	23	1	2734	1	DLGAP4	20	35152721	Missense_Mutation	SNP	C	TCGA-CS-6666-01A-11D-1893-08	5196208	35152721	27872799	61	761											
PPP1R16B	26051	broad.mit.edu	37	20	37547124	37547124	+	Missense_Mutation	SNP	G	G	A			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr20:37547124G>A	ENST00000299824.1	+	11	1708	c.1519G>A	c.(1519-1521)Gcc>Acc	p.A507T	PPP1R16B_ENST00000373331.2_Missense_Mutation_p.A465T	NM_015568.2	NP_056383.1	Q96T49	PP16B_HUMAN	protein phosphatase 1, regulatory subunit 16B	507					regulation of filopodium assembly|signal transduction	nucleus|plasma membrane	protein phosphatase binding			biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	49		Myeloproliferative disorder(115;0.00878)				CAGCAGCATGGCCAGGACGGG	0.612													5	68					0	0	0.000602	0	0	A	37547124	G	A	37547124	3	1	16	1	0	0	0	0	1	0	0	0	12415	1203	42	2	1557	2	PPP1R16B	20	37547124	Missense_Mutation	SNP	G	TCGA-CS-6666-01A-11D-1893-08	2394403	37547124	25478396	62	762											
DSCAM	1826	broad.mit.edu	37	21	41496241	41496241	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr21:41496241C>T	ENST00000400454.1	-	20	4054	c.3577G>A	c.(3577-3579)Gcg>Acg	p.A1193T		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1193	Fibronectin type-III 4.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TTCACACCCGCGGGAGGACCT	0.597													61	91					0	0	0.00361	0	0	T	41496241	C	T	41496241	3	4	16	1	0	0	0	0	1	0	0	0	4794	768	27	1	2517	1	DSCAM	21	41496241	Missense_Mutation	SNP	C	TCGA-CS-6666-01A-11D-1893-08		41496241	6633654	63	763											
TMPRSS2	7113	broad.mit.edu	37	21	42845269	42845269	+	Silent	SNP	G	G	A			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr21:42845269G>A	ENST00000398585.3	-	9	1053	c.993C>T	c.(991-993)gcC>gcT	p.A331A	TMPRSS2_ENST00000332149.5_Silent_p.A294A|TMPRSS2_ENST00000458356.1_Silent_p.A294A	NM_001135099.1	NP_001128571.1	O15393	TMPS2_HUMAN	transmembrane protease, serine 2	294	Peptidase S1.				proteolysis	cytoplasm|extracellular region|integral to plasma membrane	scavenger receptor activity|serine-type endopeptidase activity		TMPRSS2/ETV1(34)|TMPRSS2/ETV5_ENST00000306376(5)|TMPRSS2/ERG(3582)|TMPRSS2/ETV4(13)	central_nervous_system(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	4		Prostate(19;4.48e-07)|all_epithelial(19;0.031)				CGCAGTGGGCGGCTGTCACGA	0.692			T	"ERG, ETV1, ETV4, ETV5"	prostate								6	8					0	0	0.001984	0	0	A	42845269	G	A	42845269	2	1	16	1	0	0	0	0	0	0	0	1	16307	1103	39	1		1	TMPRSS2	21	42845269	Silent	SNP	G	TCGA-CS-6666-01A-11D-1893-08	1349028	42845269	5284626	64	764											
AGPAT3	56894	broad.mit.edu	37	21	45379705	45379705	+	Missense_Mutation	SNP	G	G	A			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr21:45379705G>A	ENST00000398063.2	+	2	635	c.143G>A	c.(142-144)cGc>cAc	p.R48H	AGPAT3_ENST00000291572.8_Missense_Mutation_p.R48H|AGPAT3_ENST00000546158.1_Missense_Mutation_p.R48H|AGPAT3_ENST00000398061.1_Missense_Mutation_p.R48H|AGPAT3_ENST00000479117.1_3'UTR|AGPAT3_ENST00000398058.1_Missense_Mutation_p.R48H|AGPAT3_ENST00000327505.2_Missense_Mutation_p.R48H	NM_001037553.1	NP_001032642.1	Q9NRZ7	PLCC_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 3	48					phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	1-acylglycerol-3-phosphate O-acyltransferase activity			large_intestine(4)|lung(5)|ovary(1)|prostate(1)	11				STAD - Stomach adenocarcinoma(101;0.18)|Colorectal(79;0.24)		CTCTACCGCCGCCTCAACTGC	0.667													5	34					0	0	0.000602	0	0	A	45379705	G	A	45379705	3	1	16	1	0	0	0	0	1	0	0	0	385	1087	38	1	145	1	AGPAT3	21	45379705	Missense_Mutation	SNP	G	TCGA-CS-6666-01A-11D-1893-08	2534436	45379705	2750190	65	765											
CACNA1I	8911	broad.mit.edu	37	22	40055726	40055726	+	Missense_Mutation	SNP	G	G	A			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr22:40055726G>A	ENST00000336649.4	+	17	2491	c.2491G>A	c.(2491-2493)Gtc>Atc	p.V831I	CACNA1I_ENST00000400164.3_Missense_Mutation_p.V790I|CACNA1I_ENST00000407673.1_Missense_Mutation_p.V790I|CACNA1I_ENST00000404898.1_Missense_Mutation_p.V790I|CACNA1I_ENST00000402142.3_Missense_Mutation_p.V825I|CACNA1I_ENST00000401624.1_Missense_Mutation_p.V825I			Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	825					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	GGACTGGAACGTCGTTCTCTA	0.572													7	187					0	0	0.006214	0	0	A	40055726	G	A	40055726	3	1	16	1	0	0	0	0	1	0	0	0	2564	1145	40	1	2527	1	CACNA1I	22	40055726	Missense_Mutation	SNP	G	TCGA-CS-6666-01A-11D-1893-08		40055726	11248840	66	766											
ACO2	50	broad.mit.edu	37	22	41895798	41895798	+	Missense_Mutation	SNP	C	C	G			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr22:41895798C>G	ENST00000396512.3	+	2	122	c.105C>G	c.(103-105)agC>agG	p.S35R	ACO2_ENST00000216254.4_Missense_Mutation_p.S35R			Q99798	ACON_HUMAN	aconitase 2, mitochondrial	35				S -> T (in Ref. 1; AAB38416).	citrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleus	4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron ion binding|isocitrate hydro-lyase (cis-aconitate-forming) activity			breast(3)|endometrium(5)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	23						TGGCGATGAGCCACTTTGAGC	0.517													5	423					0	0	0.000602	0	0	G	41895798	C	G	41895798	3	3	16	1	0	0	0	0	1	0	0	0	147	738	26	5	111	5	ACO2	22	41895798	Missense_Mutation	SNP	C	TCGA-CS-6666-01A-11D-1893-08	1840072	41895798	9408768	67	767											
UPK3A	7380	broad.mit.edu	37	22	45689091	45689091	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr22:45689091C>T	ENST00000216211.4	+	5	633	c.601C>T	c.(601-603)Cca>Tca	p.P201S	UPK3A_ENST00000396082.2_Missense_Mutation_p.P80S	NM_006953.3	NP_008884.1	O75631	UPK3A_HUMAN	uroplakin 3A	201					epithelial cell differentiation	endoplasmic reticulum membrane|integral to membrane				kidney(1)|large_intestine(1)|lung(2)|skin(1)	5		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		CGACACGTGGCCAGGCCGGCG	0.632													5	66					0	0	0.001984	0	0	T	45689091	C	T	45689091	3	4	16	1	0	0	0	0	1	0	0	0	17070	739	26	2	619	2	UPK3A	22	45689091	Missense_Mutation	SNP	C	TCGA-CS-6666-01A-11D-1893-08	3793293	45689091	5615475	68	768											
ATRX	546	broad.mit.edu	37	X	76919037	76919038	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chrX:76919037_76919038insT	ENST00000373344.5	-	12	4167_4168	c.3953_3954insA	c.(3952-3954)aatfs	p.N1318fs	ATRX_ENST00000395603.3_Frame_Shift_Ins_p.N1280fs|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1318					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)	AATTGACTTGATTTTTTGCTTC	0.351			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						21	3	---	---	---	---						T	76919038	-	T	76919037	7	5	16	1	0	1	1	0	0	0	0	0	1206	330	12	0	3620	0	ATRX	23	76919037	Frame_Shift_Ins	INS	-	TCGA-CS-6666-01A-11D-1893-08		76919037	78351523	69	769											
TAF7L	54457	broad.mit.edu	37	X	100530268	100530268	+	Splice_Site	SNP	T	T	C			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chrX:100530268T>C	ENST00000372907.3	-	12	1297	c.1286A>G	c.(1285-1287)aAt>aGt	p.N429S	TAF7L_ENST00000356784.1_Splice_Site_p.N343S|TAF7L_ENST00000372905.2_Splice_Site_p.N269S|TAF7L_ENST00000324762.6_Splice_Site_p.N269S	NM_024885.3	NP_079161.3	Q5H9L4	TAF7L_HUMAN	TAF7-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 50kDa	429					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription initiation from RNA polymerase II promoter	cytoplasm|transcription factor TFIID complex	binding			NS(1)|breast(4)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						CTGAAAATGATTCTGAAAAAT	0.303													3	95					0	0	0.000248	0	0	C	100530268	T	C	100530268	5	2	16	1	0	0	0	0	0	0	1	0	15590	1507	52	3	110	3	TAF7L	23	100530268	Splice_Site	SNP	T	TCGA-CS-6666-01A-11D-1893-08	23611231	100530268	54740292	70	770											
CASQ2	845	broad.mit.edu	37	1	116311162	116311162	+	Translation_Start_Site	SNP	T	T	C			TCGA-CS-6667-01A-12D-2024-08	TCGA-CS-6667-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c14ddc3-acf0-4f96-bdb6-eb517d1da522	49ca5323-38a1-4786-b6aa-66de49b053a1	g.chr1:116311162T>C	ENST00000261448.5	-	1	240	c.1A>G	c.(1-3)Atg>Gtg	p.M1V	CASQ2_ENST00000456138.2_Start_Codon_SNP_p.M1V	NM_001232.3	NP_001223.2	O14958	CASQ2_HUMAN	calsequestrin 2 (cardiac muscle)	1					heart development|striated muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|skin(1)	18	Lung SC(450;0.211)	all_cancers(81;1.25e-06)|all_epithelial(167;1.02e-06)|all_lung(203;8.03e-06)|Lung NSC(69;5.01e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		GTTCTCTTCATTTGGGAAAAC	0.453													6	19					0	0	1	0	0	C	116311162	T	C	116311162	1	2	17	1	0	0	0	0	0	0	0	0	2699	1493	52	3		3	CASQ2	1	116311162	Translation_Start_Site	SNP	T	TCGA-CS-6667-01A-12D-2024-08		116311162	132939459	1	771											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-CS-6667-01A-12D-2024-08	TCGA-CS-6667-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c14ddc3-acf0-4f96-bdb6-eb517d1da522	49ca5323-38a1-4786-b6aa-66de49b053a1	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	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								30	48					0	0	1	0	0	T	209113112	C	T	209113112	3	4	17	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-CS-6667-01A-12D-2024-08		209113112	34086261	2	772											
ABCA12	26154	broad.mit.edu	37	2	215823176	215823176	+	Missense_Mutation	SNP	A	A	G			TCGA-CS-6667-01A-12D-2024-08	TCGA-CS-6667-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c14ddc3-acf0-4f96-bdb6-eb517d1da522	49ca5323-38a1-4786-b6aa-66de49b053a1	g.chr2:215823176A>G	ENST00000272895.7	-	41	6161	c.5942T>C	c.(5941-5943)aTc>aCc	p.I1981T	ABCA12_ENST00000389661.4_Missense_Mutation_p.I1663T|AC072062.1_ENST00000607412.1_RNA	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	1981					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TAAACTGCTGATTCTAGAGTG	0.388													25	23					0	0	1	0	0	G	215823176	A	G	215823176	3	3	17	1	0	0	0	0	1	0	0	0	30	333	12	3	1897	3	ABCA12	2	215823176	Missense_Mutation	SNP	A	TCGA-CS-6667-01A-12D-2024-08	6710064	215823176	27376197	3	773											
CCDC108	255101	broad.mit.edu	37	2	219895549	219895549	+	Silent	SNP	G	G	A			TCGA-CS-6667-01A-12D-2024-08	TCGA-CS-6667-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c14ddc3-acf0-4f96-bdb6-eb517d1da522	49ca5323-38a1-4786-b6aa-66de49b053a1	g.chr2:219895549G>A	ENST00000341552.5	-	9	1106	c.1023C>T	c.(1021-1023)tgC>tgT	p.C341C	CCDC108_ENST00000441968.1_Silent_p.C341C|CCDC108_ENST00000409865.3_Silent_p.C330C|CCDC108_ENST00000410037.1_Silent_p.C276C|CCDC108_ENST00000453220.1_Silent_p.C341C	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	341						integral to membrane	structural molecule activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCAGCTGGGCGCACTTGGCTG	0.637													8	25					0	0	1	0	0	A	219895549	G	A	219895549	2	1	17	1	0	0	0	0	0	0	0	1	2761	1079	38	1		1	CCDC108	2	219895549	Silent	SNP	G	TCGA-CS-6667-01A-12D-2024-08	4072373	219895549	23303824	4	774											
H1FOO	132243	broad.mit.edu	37	3	129268112	129268113	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CS-6667-01A-12D-2024-08	TCGA-CS-6667-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c14ddc3-acf0-4f96-bdb6-eb517d1da522	49ca5323-38a1-4786-b6aa-66de49b053a1	g.chr3:129268112_129268113insG	ENST00000324382.2	+	3	652_653	c.647_648insG	c.(646-651)aaggtgfs	p.V217fs	H1FOO_ENST00000503977.1_Frame_Shift_Ins_p.V78fs	NM_153833.1	NP_722575.1	Q8IZA3	H1FOO_HUMAN	H1 histone family, member O, oocyte-specific	217					meiosis|nucleosome assembly	cytoplasm|nucleosome	DNA binding			endometrium(1)|lung(4)|skin(1)	6						GAGGCTAGGAAGGTGCCCCCCA	0.649													3	3	---	---	---	---						G	129268113	-	G	129268112	7	5	17	1	0	1	1	0	0	0	0	0	6963	72	3	0	657	0	H1FOO	3	129268112	Frame_Shift_Ins	INS	-	TCGA-CS-6667-01A-12D-2024-08		129268112	68754318	5	775											
EPHA5	2044	broad.mit.edu	37	4	66201659	66201659	+	Missense_Mutation	SNP	G	G	A			TCGA-CS-6667-01A-12D-2024-08	TCGA-CS-6667-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c14ddc3-acf0-4f96-bdb6-eb517d1da522	49ca5323-38a1-4786-b6aa-66de49b053a1	g.chr4:66201659G>A	ENST00000273854.3	-	16	3443	c.2843C>T	c.(2842-2844)gCa>gTa	p.A948V	EPHA5_ENST00000432638.2_Missense_Mutation_p.A785V|EPHA5_ENST00000511294.1_Missense_Mutation_p.A949V|EPHA5_ENST00000354839.4_Missense_Mutation_p.A926V	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	948					cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						CCTGCAGGATGCATTAACCAG	0.403										TSP Lung(17;0.13)			35	63					0	0	1	0	0	A	66201659	G	A	66201659	3	1	17	1	0	0	0	0	1	0	0	0	5198	1319	46	2	282	2	EPHA5	4	66201659	Missense_Mutation	SNP	G	TCGA-CS-6667-01A-12D-2024-08		66201659	124952617	6	776											
FAT4	79633	broad.mit.edu	37	4	126239329	126239329	+	Missense_Mutation	SNP	A	A	G			TCGA-CS-6667-01A-12D-2024-08	TCGA-CS-6667-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c14ddc3-acf0-4f96-bdb6-eb517d1da522	49ca5323-38a1-4786-b6aa-66de49b053a1	g.chr4:126239329A>G	ENST00000394329.3	+	1	1776	c.1763A>G	c.(1762-1764)tAt>tGt	p.Y588C		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	588	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CCAGAAGGGTATGATGTGTCT	0.532													35	51					0	0	1	0	0	G	126239329	A	G	126239329	3	3	17	1	0	0	0	0	1	0	0	0	5725	449	16	3	1765	3	FAT4	4	126239329	Missense_Mutation	SNP	A	TCGA-CS-6667-01A-12D-2024-08	60037670	126239329	64914947	7	777											
GEMIN5	25929	broad.mit.edu	37	5	154270897	154270897	+	Missense_Mutation	SNP	T	T	C			TCGA-CS-6667-01A-12D-2024-08	TCGA-CS-6667-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c14ddc3-acf0-4f96-bdb6-eb517d1da522	49ca5323-38a1-4786-b6aa-66de49b053a1	g.chr5:154270897T>C	ENST00000285873.7	-	26	4241	c.4166A>G	c.(4165-4167)cAa>cGa	p.Q1389R		NM_001252156.1|NM_015465.4	NP_001239085.1|NP_056280.2	Q8TEQ6	GEMI5_HUMAN	gem (nuclear organelle) associated protein 5	1389					ncRNA metabolic process|protein complex assembly|spliceosomal snRNP assembly	Cajal body|cytosol|spliceosomal complex	protein binding|snRNA binding			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TTGACTCTTTTGGTGTTGTCG	0.458													36	55					0	0	1	0	0	C	154270897	T	C	154270897	3	2	17	1	0	0	0	0	1	0	0	0	6373	1812	63	3	372	3	GEMIN5	5	154270897	Missense_Mutation	SNP	T	TCGA-CS-6667-01A-12D-2024-08		154270897	26644363	8	778											
GRM4	2914	broad.mit.edu	37	6	33996059	33996059	+	Missense_Mutation	SNP	A	A	C			TCGA-CS-6667-01A-12D-2024-08	TCGA-CS-6667-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c14ddc3-acf0-4f96-bdb6-eb517d1da522	49ca5323-38a1-4786-b6aa-66de49b053a1	g.chr6:33996059A>C	ENST00000538487.2	-	10	2970	c.2527T>G	c.(2527-2529)Tac>Gac	p.Y843D	GRM4_ENST00000609222.1_Missense_Mutation_p.Y710D|GRM4_ENST00000374177.3_Missense_Mutation_p.Y727D|GRM4_ENST00000535756.1_Missense_Mutation_p.Y710D|GRM4_ENST00000545715.1_5'UTR|GRM4_ENST00000544773.2_Missense_Mutation_p.Y674D|GRM4_ENST00000455714.2_Missense_Mutation_p.Y703D|GRM4_ENST00000374181.4_Missense_Mutation_p.Y843D	NM_000841.2|NM_001256811.1	NP_000832.1|NP_001243740.1	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4						activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48					L-Glutamic Acid(DB00142)	AGGATGATGTAGACTTTGGGC	0.607													49	72					0	0	1	0	0	C	33996059	A	C	33996059	3	2	17	1	0	0	0	0	1	0	0	0	6840	420	15	5	219	5	GRM4	6	33996059	Missense_Mutation	SNP	A	TCGA-CS-6667-01A-12D-2024-08		33996059	137119008	9	779											
RARRES2	5919	broad.mit.edu	37	7	150037192	150037192	+	Silent	SNP	A	A	G			TCGA-CS-6667-01A-12D-2024-08	TCGA-CS-6667-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c14ddc3-acf0-4f96-bdb6-eb517d1da522	49ca5323-38a1-4786-b6aa-66de49b053a1	g.chr7:150037192A>G	ENST00000466675.1	-	2	1309	c.276T>C	c.(274-276)aaT>aaC	p.N92N	RARRES2_ENST00000223271.3_Silent_p.N92N|RARRES2_ENST00000482669.1_Silent_p.N92N			Q99969	RARR2_HUMAN	retinoic acid receptor responder (tazarotene induced) 2	92					embryonic digestive tract development|in utero embryonic development|positive regulation of macrophage chemotaxis|retinoid metabolic process	extracellular matrix	receptor binding			endometrium(1)|large_intestine(1)|lung(1)|pancreas(1)|skin(1)	5			OV - Ovarian serous cystadenocarcinoma(82;0.011)			CACTCACCCCATTGGGCCTGA	0.567													193	327					0	0	1	0	0	G	150037192	A	G	150037192	2	3	17	1	0	0	0	0	0	0	0	1	13108	214	8	3		3	RARRES2	7	150037192	Silent	SNP	A	TCGA-CS-6667-01A-12D-2024-08		150037192	9101471	10	780											
KCNU1	157855	broad.mit.edu	37	8	36694322	36694322	+	Silent	SNP	A	A	G			TCGA-CS-6667-01A-12D-2024-08	TCGA-CS-6667-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c14ddc3-acf0-4f96-bdb6-eb517d1da522	49ca5323-38a1-4786-b6aa-66de49b053a1	g.chr8:36694322A>G	ENST00000399881.3	+	14	1414	c.1377A>G	c.(1375-1377)ccA>ccG	p.P459P		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	459	RCK N-terminal.					voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		TTTATCTGCCAAAGATTCCCA	0.423													15	37					0	0	1	0	0	G	36694322	A	G	36694322	2	3	17	1	0	0	0	0	0	0	0	1	8137	117	5	3		3	KCNU1	8	36694322	Silent	SNP	A	TCGA-CS-6667-01A-12D-2024-08		36694322	109669700	11	781											
RAG2	5897	broad.mit.edu	37	11	36614246	36614246	+	Silent	SNP	G	G	A			TCGA-CS-6667-01A-12D-2024-08	TCGA-CS-6667-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c14ddc3-acf0-4f96-bdb6-eb517d1da522	49ca5323-38a1-4786-b6aa-66de49b053a1	g.chr11:36614246G>A	ENST00000311485.3	-	2	1634	c.1473C>T	c.(1471-1473)ccC>ccT	p.P491P		NM_000536.3|NM_001243785.1|NM_001243786.1	NP_000527.2|NP_001230714.1|NP_001230715.1	P55895	RAG2_HUMAN	recombination activating gene 2	491					chromatin modification|pre-B cell allelic exclusion|somatic diversification of immunoglobulins|T cell differentiation in thymus|V(D)J recombination	nucleus	chromatin binding|DNA binding|endonuclease activity|methylated histone residue binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	32	all_lung(20;0.226)	all_hematologic(20;0.00756)				GGACTCTTTGGGGAGTGTGTA	0.448									Familial Hemophagocytic Lymphohistiocytosis				30	49					0	0	1	0	0	A	36614246	G	A	36614246	2	1	17	1	0	0	0	0	0	0	0	1	13057	1219	43	2		2	RAG2	11	36614246	Silent	SNP	G	TCGA-CS-6667-01A-12D-2024-08		36614246	98392270	12	782											
FOLH1B	219595	broad.mit.edu	37	11	89407164	89407165	+	RNA	INS	-	-	T	rs72449667		TCGA-CS-6667-01A-12D-2024-08	TCGA-CS-6667-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c14ddc3-acf0-4f96-bdb6-eb517d1da522	49ca5323-38a1-4786-b6aa-66de49b053a1	g.chr11:89407164_89407165insT	ENST00000532352.1	+	0	1114							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B						proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						CCATCAATGACTTTTTTTTTTT	0.302													4	8	---	---	---	---						T	89407165	-	T	89407164	6	5	17	0	1	1	1	0	0	0	0	0	6013	580	20	0		0	FOLH1B	11	89407164	RNA	INS	-	TCGA-CS-6667-01A-12D-2024-08	52792918	89407164	45599352	13	783											
ROBO3	64221	broad.mit.edu	37	11	124738751	124738751	+	Missense_Mutation	SNP	G	G	A			TCGA-CS-6667-01A-12D-2024-08	TCGA-CS-6667-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c14ddc3-acf0-4f96-bdb6-eb517d1da522	49ca5323-38a1-4786-b6aa-66de49b053a1	g.chr11:124738751G>A	ENST00000397801.1	+	2	406	c.214G>A	c.(214-216)Gat>Aat	p.D72N	ROBO3_ENST00000538940.1_Missense_Mutation_p.D50N	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3 (Drosophila)	72	Ig-like C2-type 1.				axon midline choice point recognition	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)		GCAGCCGCCAGATCTGCTGGT	0.672													3	12					0	0	1	0	0	A	124738751	G	A	124738751	3	1	17	1	0	0	0	0	1	0	0	0	13567	942	33	2	220	2	ROBO3	11	124738751	Missense_Mutation	SNP	G	TCGA-CS-6667-01A-12D-2024-08	35331587	124738751	10267765	14	784											
OPCML	4978	broad.mit.edu	37	11	132527046	132527046	+	Silent	SNP	C	C	T			TCGA-CS-6667-01A-12D-2024-08	TCGA-CS-6667-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c14ddc3-acf0-4f96-bdb6-eb517d1da522	49ca5323-38a1-4786-b6aa-66de49b053a1	g.chr11:132527046C>T	ENST00000331898.7	-	2	914	c.336G>A	c.(334-336)ccG>ccA	p.P112P	OPCML_ENST00000541867.1_Silent_p.P112P|OPCML_ENST00000524381.1_Silent_p.P105P|OPCML_ENST00000529038.1_5'UTR|OPCML_ENST00000374778.4_Silent_p.P71P	NM_002545.3	NP_002536.1	Q14982	OPCM_HUMAN	opioid binding protein/cell adhesion molecule-like	112	Ig-like C2-type 1.				cell adhesion|neuron recognition	anchored to membrane|integral to plasma membrane	opioid receptor activity			endometrium(5)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|skin(2)|urinary_tract(8)	47	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)		AGCAGGTGTACGGACCTTCGT	0.502													19	56					0	0	1	0	0	T	132527046	C	T	132527046	2	4	17	1	0	0	0	0	0	0	0	1	10922	523	19	1		1	OPCML	11	132527046	Silent	SNP	C	TCGA-CS-6667-01A-12D-2024-08	7788295	132527046	2479470	15	785											
FREM2	341640	broad.mit.edu	37	13	39454427	39454427	+	Missense_Mutation	SNP	C	C	G	rs148812741		TCGA-CS-6667-01A-12D-2024-08	TCGA-CS-6667-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c14ddc3-acf0-4f96-bdb6-eb517d1da522	49ca5323-38a1-4786-b6aa-66de49b053a1	g.chr13:39454427C>G	ENST00000280481.7	+	24	9229	c.9013C>G	c.(9013-9015)Cta>Gta	p.L3005V		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	3005					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		CTAGGTCGCTCTAGGCCGAGA	0.388													17	31					0	0	1	0	0	G	39454427	C	G	39454427	3	3	17	1	0	0	0	0	1	0	0	0	6080	912	32	4	9107	4	FREM2	13	39454427	Missense_Mutation	SNP	C	TCGA-CS-6667-01A-12D-2024-08		39454427	75715451	16	786											
TMX1	81542	broad.mit.edu	37	14	51713855	51713855	+	Missense_Mutation	SNP	G	G	C			TCGA-CS-6667-01A-12D-2024-08	TCGA-CS-6667-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c14ddc3-acf0-4f96-bdb6-eb517d1da522	49ca5323-38a1-4786-b6aa-66de49b053a1	g.chr14:51713855G>C	ENST00000457354.2	+	4	485	c.360G>C	c.(358-360)aaG>aaC	p.K120N		NM_030755.4	NP_110382.3	Q9H3N1	TMX1_HUMAN	thioredoxin-related transmembrane protein 1	120	Thioredoxin.				anti-apoptosis|cell proliferation|cell redox homeostasis|DNA replication|electron transport chain|ER to Golgi vesicle-mediated transport|leukocyte activation|positive regulation of growth|positive regulation of transcription, DNA-dependent|response to stress|signal transduction	endoplasmic reticulum membrane|integral to membrane|membrane fraction	arsenate reductase (thioredoxin) activity|disulfide oxidoreductase activity			endometrium(2)|large_intestine(2)|urinary_tract(1)	5						CAAGGACTAAGAAGGACTTCA	0.353													38	46					0	0	1	0	0	C	51713855	G	C	51713855	3	2	17	1	0	0	0	0	1	0	0	0	16326	933	33	4	374	4	TMX1	14	51713855	Missense_Mutation	SNP	G	TCGA-CS-6667-01A-12D-2024-08		51713855	55635685	17	787											
VPS13C	54832	broad.mit.edu	37	15	62302761	62302776	+	Frame_Shift_Del	DEL	CATGTAGAGTTTTGCA	CATGTAGAGTTTTGCA	-			TCGA-CS-6667-01A-12D-2024-08	TCGA-CS-6667-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c14ddc3-acf0-4f96-bdb6-eb517d1da522	49ca5323-38a1-4786-b6aa-66de49b053a1	g.chr15:62302761_62302776delCATGTAGAGTTTTGCA	ENST00000261517.5	-	13	979_994	c.906_921delTGCAAAACTCTACATG	c.(904-921)tctgcaaaactctacatgfs	p.SAKLYM302fs	VPS13C_ENST00000249837.3_Frame_Shift_Del_p.SAKLYM259fs|VPS13C_ENST00000395896.4_Frame_Shift_Del_p.SAKLYM302fs|VPS13C_ENST00000395898.3_Frame_Shift_Del_p.SAKLYM259fs	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13 homolog C (S. cerevisiae)	302					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						CATAAGGATTCATGTAGAGTTTTGCAGAGGCTGATA	0.352													17	58	---	---	---	---						-	62302776	CATGTAGAGTTTTGCA	-	62302761	7	5	17	1	0	1	0	1	0	0	0	0	17251	826	29	0	10660	0	VPS13C	15	62302761	Frame_Shift_Del	DEL	CATGTAGAGTTTTGCA	TCGA-CS-6667-01A-12D-2024-08		62302761	40228631	18	788											
TP53	7157	broad.mit.edu	37	17	7578550	7578550	+	Missense_Mutation	SNP	G	G	A			TCGA-CS-6667-01A-12D-2024-08	TCGA-CS-6667-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c14ddc3-acf0-4f96-bdb6-eb517d1da522	49ca5323-38a1-4786-b6aa-66de49b053a1	g.chr17:7578550G>A	ENST00000420246.2	-	5	512	c.380C>T	c.(379-381)tCc>tTc	p.S127F	TP53_ENST00000455263.2_Missense_Mutation_p.S127F|TP53_ENST00000269305.4_Missense_Mutation_p.S127F|TP53_ENST00000359597.4_Missense_Mutation_p.S127F|TP53_ENST00000413465.2_Missense_Mutation_p.S127F|TP53_ENST00000445888.2_Missense_Mutation_p.S127F	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	127	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		S -> C (in a sporadic cancer; somatic mutation).|S -> F (in sporadic cancers; somatic mutation).|S -> P (in sporadic cancers; somatic mutation).|S -> T (in sporadic cancers; somatic mutation).|S -> Y (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.S127F(23)|p.0?(8)|p.S127Y(8)|p.S127C(7)|p.Y126_K132delYSPALNK(6)|p.A129fs*20(3)|p.Y126_N131delYSPALN(3)|p.S34C(2)|p.P128fs*42(2)|p.V73fs*9(1)|p.S127fs*36(1)|p.P128fs*18(1)|p.Y126fs*11(1)|p.S127_Q136del10(1)|p.P13fs*18(1)|p.?(1)|p.S34F(1)|p.A36fs*20(1)|p.S127fs*42(1)|p.Y126fs*18(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)		GAGGGCAGGGGAGTACTGTAG	0.552		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)			15	20					0	0	1	0	0	A	7578550	G	A	7578550	3	1	17	1	0	0	0	0	1	0	0	0	16442	1174	41	2	918	2	TP53	17	7578550	Missense_Mutation	SNP	G	TCGA-CS-6667-01A-12D-2024-08		7578550	73616660	19	789											
SMARCA4	6597	broad.mit.edu	37	19	11143993	11143993	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-6667-01A-12D-2024-08	TCGA-CS-6667-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c14ddc3-acf0-4f96-bdb6-eb517d1da522	49ca5323-38a1-4786-b6aa-66de49b053a1	g.chr19:11143993C>T	ENST00000358026.2	+	26	3858	c.3574C>T	c.(3574-3576)Cgc>Tgc	p.R1192C	SMARCA4_ENST00000589677.1_Missense_Mutation_p.R1192C|SMARCA4_ENST00000590574.1_Missense_Mutation_p.R1192C|SMARCA4_ENST00000450717.3_Missense_Mutation_p.R1192C|SMARCA4_ENST00000344626.4_Missense_Mutation_p.R1192C|SMARCA4_ENST00000444061.3_Missense_Mutation_p.R1192C|SMARCA4_ENST00000429416.3_Missense_Mutation_p.R1192C|SMARCA4_ENST00000541122.2_Missense_Mutation_p.R1192C|SMARCA4_ENST00000413806.3_Missense_Mutation_p.R1192C	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	1192	Helicase C-terminal.				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.R1192C(1)|p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				CCGAGCCCACCGCATCGGGCA	0.607			"F, N, Mis"		NSCLC								8	42					0	0	1	0	0	T	11143993	C	T	11143993	3	4	17	1	0	0	0	0	1	0	0	0	14824	652	23	1	3672	1	SMARCA4	19	11143993	Missense_Mutation	SNP	C	TCGA-CS-6667-01A-12D-2024-08		11143993	47984990	20	790											
CASP14	23581	broad.mit.edu	37	19	15166067	15166067	+	Missense_Mutation	SNP	G	G	A	rs148526551		TCGA-CS-6667-01A-12D-2024-08	TCGA-CS-6667-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c14ddc3-acf0-4f96-bdb6-eb517d1da522	49ca5323-38a1-4786-b6aa-66de49b053a1	g.chr19:15166067G>A	ENST00000427043.3	+	5	810	c.502G>A	c.(502-504)Gtt>Att	p.V168I	CASP14_ENST00000221740.1_Missense_Mutation_p.V168I	NM_012114.2	NP_036246.1	P31944	CASPE_HUMAN	caspase 14, apoptosis-related cysteine peptidase	168					apoptosis|cell differentiation|epidermis development|proteolysis	cytoplasm|nucleus	cysteine-type endopeptidase activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(3)	26						TGCCTTGCACGTTTATTCCAC	0.547													4	48					0	0	1	0	0	A	15166067	G	A	15166067	3	1	17	1	0	0	0	0	1	0	0	0	2688	1145	40	1	516	1	CASP14	19	15166067	Missense_Mutation	SNP	G	TCGA-CS-6667-01A-12D-2024-08	4022074	15166067	43962916	21	791											
WDR62	284403	broad.mit.edu	37	19	36572456	36572456	+	Missense_Mutation	SNP	A	A	T			TCGA-CS-6667-01A-12D-2024-08	TCGA-CS-6667-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c14ddc3-acf0-4f96-bdb6-eb517d1da522	49ca5323-38a1-4786-b6aa-66de49b053a1	g.chr19:36572456A>T	ENST00000401500.2	+	10	1390	c.1355A>T	c.(1354-1356)aAa>aTa	p.K452I	WDR62_ENST00000388999.3_Missense_Mutation_p.K452I|WDR62_ENST00000270301.7_Missense_Mutation_p.K452I	NM_001083961.1|NM_173636.4	NP_001077430.1|NP_775907.4	O43379	WDR62_HUMAN	WD repeat domain 62	452					cerebral cortex development	nucleus				cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3)	43	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			CACTGGCAGAAAAACATCTTC	0.473													19	79					0	0	1	0	0	T	36572456	A	T	36572456	3	4	17	1	0	0	0	0	1	0	0	0	17373	14	1	5	1393	5	WDR62	19	36572456	Missense_Mutation	SNP	A	TCGA-CS-6667-01A-12D-2024-08	21406389	36572456	22556527	22	792											
IL17REL	400935	broad.mit.edu	37	22	50435799	50435799	+	Silent	SNP	G	G	A			TCGA-CS-6667-01A-12D-2024-08	TCGA-CS-6667-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c14ddc3-acf0-4f96-bdb6-eb517d1da522	49ca5323-38a1-4786-b6aa-66de49b053a1	g.chr22:50435799G>A	ENST00000389983.2	-	13	1188	c.924C>T	c.(922-924)agC>agT	p.S308S	IL17REL_ENST00000341280.5_Silent_p.S308S	NM_001001694.2	NP_001001694.2	Q6ZVW7	I17EL_HUMAN	interleukin 17 receptor E-like	308										endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)	6		all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236)		BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		CAGGCAGGGAGCTGTGACTTC	0.667													5	29					0	0	1	0	0	A	50435799	G	A	50435799	2	1	17	1	0	0	0	0	0	0	0	1	7688	962	34	2		2	IL17REL	22	50435799	Silent	SNP	G	TCGA-CS-6667-01A-12D-2024-08		50435799	868767	23	793											
WWC3	55841	broad.mit.edu	37	X	10106879	10106879	+	Missense_Mutation	SNP	G	G	A			TCGA-CS-6667-01A-12D-2024-08	TCGA-CS-6667-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c14ddc3-acf0-4f96-bdb6-eb517d1da522	49ca5323-38a1-4786-b6aa-66de49b053a1	g.chrX:10106879G>A	ENST00000380861.4	+	21	3378	c.2987G>A	c.(2986-2988)cGg>cAg	p.R996Q	WWC3_ENST00000454666.1_Missense_Mutation_p.R996Q	NM_015691.3	NP_056506.2	Q9ULE0	WWC3_HUMAN	WWC family member 3	996										NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						CTGCGGCAGCGGTTGGAGGAC	0.701													10	20					0	0	1	0	0	A	10106879	G	A	10106879	3	1	17	1	0	0	0	0	1	0	0	0	17473	1116	39	1	3065	1	WWC3	23	10106879	Missense_Mutation	SNP	G	TCGA-CS-6667-01A-12D-2024-08		10106879	145163681	24	794											
POLA1	5422	broad.mit.edu	37	X	24753561	24753561	+	Missense_Mutation	SNP	T	T	A			TCGA-CS-6667-01A-12D-2024-08	TCGA-CS-6667-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c14ddc3-acf0-4f96-bdb6-eb517d1da522	49ca5323-38a1-4786-b6aa-66de49b053a1	g.chrX:24753561T>A	ENST00000379068.3	+	18	1922	c.1879T>A	c.(1879-1881)Ttt>Att	p.F627I	POLA1_ENST00000379059.3_Missense_Mutation_p.F621I			P09884	DPOLA_HUMAN	polymerase (DNA directed), alpha 1, catalytic subunit	621					cell proliferation|DNA replication checkpoint|DNA replication, synthesis of RNA primer|DNA-dependent DNA replication initiation|double-strand break repair via nonhomologous end joining|interspecies interaction between organisms|lagging strand elongation|leading strand elongation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|cytoplasm|nuclear envelope|nuclear matrix|nucleolus|nucleoplasm	chromatin binding|DNA-directed DNA polymerase activity|metal ion binding|nucleoside binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|skin(2)	11					Clofarabine(DB00631)|Fludarabine(DB01073)	ACTGCTAGGTTTTTTCCTTGC	0.393													25	55					0	0	1	0	0	A	24753561	T	A	24753561	3	1	17	1	0	0	0	0	1	0	0	0	12235	1841	64	5	1931	5	POLA1	23	24753561	Missense_Mutation	SNP	T	TCGA-CS-6667-01A-12D-2024-08	14646682	24753561	130516999	25	795											
DCAF8L1	139425	broad.mit.edu	37	X	27999088	27999088	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CS-6667-01A-12D-2024-08	TCGA-CS-6667-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c14ddc3-acf0-4f96-bdb6-eb517d1da522	49ca5323-38a1-4786-b6aa-66de49b053a1	g.chrX:27999088G>A	ENST00000441525.1	-	1	478	c.364C>T	c.(364-366)Cga>Tga	p.R122*		NM_001017930.1	NP_001017930.1	A6NGE4	DC8L1_HUMAN	DDB1 and CUL4 associated factor 8-like 1	122										NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						CCACCGCATCGTGGACACATC	0.547													14	27					0	0	1	0	0	A	27999088	G	A	27999088	4	1	17	1	0	0	0	0	0	1	0	0	4301	1153	40	1	1442	1	DCAF8L1	23	27999088	Nonsense_Mutation	SNP	G	TCGA-CS-6667-01A-12D-2024-08	3245527	27999088	127271472	26	796											
ZNF157	7712	broad.mit.edu	37	X	47272249	47272249	+	Silent	SNP	A	A	C			TCGA-CS-6667-01A-12D-2024-08	TCGA-CS-6667-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c14ddc3-acf0-4f96-bdb6-eb517d1da522	49ca5323-38a1-4786-b6aa-66de49b053a1	g.chrX:47272249A>C	ENST00000377073.3	+	4	863	c.777A>C	c.(775-777)gcA>gcC	p.A259A		NM_003446.3	NP_003437.2	P51786	ZN157_HUMAN	zinc finger protein 157	259					negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	11						CTGAGAAGGCAACCCTCACGA	0.438													7	27					0	0	1	0	0	C	47272249	A	C	47272249	2	2	17	1	0	0	0	0	0	0	0	1	17795	117	5	5		5	ZNF157	23	47272249	Silent	SNP	A	TCGA-CS-6667-01A-12D-2024-08	19273161	47272249	107998311	27	797											
KCND1	3750	broad.mit.edu	37	X	48826090	48826090	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-6667-01A-12D-2024-08	TCGA-CS-6667-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c14ddc3-acf0-4f96-bdb6-eb517d1da522	49ca5323-38a1-4786-b6aa-66de49b053a1	g.chrX:48826090C>T	ENST00000218176.3	-	1	1886	c.589G>A	c.(589-591)Gcc>Acc	p.A197T		NM_004979.4	NP_004970.3	Q9NSA2	KCND1_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 1	197						voltage-gated potassium channel complex	metal ion binding|voltage-gated potassium channel activity			endometrium(3)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	24						ACCGACACGGCGATGAAGAAG	0.642													10	8					0	0	1	0	0	T	48826090	C	T	48826090	3	4	17	1	0	0	0	0	1	0	0	0	8062	768	27	1	1378	1	KCND1	23	48826090	Missense_Mutation	SNP	C	TCGA-CS-6667-01A-12D-2024-08	1553841	48826090	106444470	28	798											
PRAMEF1	65121	broad.mit.edu	37	1	12853498	12853498	+	Missense_Mutation	SNP	T	T	G	rs149824309		TCGA-CS-6668-01A-11D-1893-08	TCGA-CS-6668-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d414e076-dcb6-4edf-adef-0abdc57354ea	7154a36b-c503-43f5-b291-89bd5ce2875f	g.chr1:12853498T>G	ENST00000332296.7	+	2	225	c.122T>G	c.(121-123)aTg>aGg	p.M41R		NM_023013.2	NP_075389.1	O95521	PRAM1_HUMAN	PRAME family member 1	41										cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CCACTCTTCATGGAGGCCTTC	0.587													103	36					0	0	0.01441	0	0	G	12853498	T	G	12853498	3	3	18	1	0	0	0	0	1	0	0	0	12474	1464	51	4	124	4	PRAMEF1	1	12853498	Missense_Mutation	SNP	T	TCGA-CS-6668-01A-11D-1893-08		12853498	236397123	1	799											
PKP1	5317	broad.mit.edu	37	1	201282317	201282317	+	Silent	SNP	G	G	A			TCGA-CS-6668-01A-11D-1893-08	TCGA-CS-6668-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d414e076-dcb6-4edf-adef-0abdc57354ea	7154a36b-c503-43f5-b291-89bd5ce2875f	g.chr1:201282317G>A	ENST00000263946.3	+	3	581	c.330G>A	c.(328-330)cgG>cgA	p.R110R	PKP1_ENST00000352845.3_Silent_p.R110R|PKP1_ENST00000367324.3_Silent_p.R110R	NM_000299.3	NP_000290.2	Q13835	PKP1_HUMAN	plakophilin 1 (ectodermal dysplasia/skin fragility syndrome)	110					cell adhesion|cellular component disassembly involved in apoptosis|multicellular organismal development	desmosome|intermediate filament|nucleus	intermediate filament binding|signal transducer activity|structural constituent of epidermis			NS(2)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(5)|prostate(1)	22						CCCTCAAGCGGGAGCCTGACA	0.592													6	4					0	0	0.001168	0	0	A	201282317	G	A	201282317	2	1	18	1	0	0	0	0	0	0	0	1	12032	1219	43	2		2	PKP1	1	201282317	Silent	SNP	G	TCGA-CS-6668-01A-11D-1893-08	188428819	201282317	47968304	2	800											
RNF103	7844	broad.mit.edu	37	2	86831209	86831209	+	Silent	SNP	T	T	C			TCGA-CS-6668-01A-11D-1893-08	TCGA-CS-6668-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d414e076-dcb6-4edf-adef-0abdc57354ea	7154a36b-c503-43f5-b291-89bd5ce2875f	g.chr2:86831209T>C	ENST00000237455.4	-	4	2783	c.1815A>G	c.(1813-1815)gaA>gaG	p.E605E	AC015971.2_ENST00000597638.1_RNA|AC015971.2_ENST00000426549.1_RNA|AC015971.2_ENST00000439077.1_RNA|CHMP3_ENST00000439940.2_Intron|RNF103-CHMP3_ENST00000604011.1_Intron	NM_001198951.1|NM_005667.3	NP_001185880.1|NP_005658.1	O00237	RN103_HUMAN	ring finger protein 103	605					central nervous system development|ER-associated protein catabolic process	endoplasmic reticulum membrane|integral to membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(7)|skin(2)	25						ACCAATCAGGTTCCATATCTT	0.413													92	151					0	0	0.01441	0	0	C	86831209	T	C	86831209	2	2	18	1	0	0	0	0	0	0	0	1	13475	1722	60	3		3	RNF103	2	86831209	Silent	SNP	T	TCGA-CS-6668-01A-11D-1893-08		86831209	156368164	3	801											
LRP1B	53353	broad.mit.edu	37	2	142567938	142567938	+	Missense_Mutation	SNP	A	A	G			TCGA-CS-6668-01A-11D-1893-08	TCGA-CS-6668-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d414e076-dcb6-4edf-adef-0abdc57354ea	7154a36b-c503-43f5-b291-89bd5ce2875f	g.chr2:142567938A>G	ENST00000389484.3	-	2	1086	c.115T>C	c.(115-117)Tgc>Cgc	p.C39R	LRP1B_ENST00000486364.1_5'UTR	NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	39	LDL-receptor class A 1.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TGATCGTGGCAAAGAAATTCA	0.443										TSP Lung(27;0.18)			22	16					0	0	0.012319	0	0	G	142567938	A	G	142567938	3	3	18	1	0	0	0	0	1	0	0	0	9000	130	5	3	14044	3	LRP1B	2	142567938	Missense_Mutation	SNP	A	TCGA-CS-6668-01A-11D-1893-08	55736729	142567938	100631435	4	802											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-CS-6668-01A-11D-1893-08	TCGA-CS-6668-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d414e076-dcb6-4edf-adef-0abdc57354ea	7154a36b-c503-43f5-b291-89bd5ce2875f	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	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								32	34					0	0	0.009535	0	0	T	209113112	C	T	209113112	3	4	18	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-CS-6668-01A-11D-1893-08	66545174	209113112	34086261	5	803											
FBXO36	130888	broad.mit.edu	37	2	230861511	230861511	+	Missense_Mutation	SNP	A	A	G			TCGA-CS-6668-01A-11D-1893-08	TCGA-CS-6668-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d414e076-dcb6-4edf-adef-0abdc57354ea	7154a36b-c503-43f5-b291-89bd5ce2875f	g.chr2:230861511A>G	ENST00000373652.3	+	4	578	c.157A>G	c.(157-159)Atc>Gtc	p.I53V	FBXO36_ENST00000283946.3_Missense_Mutation_p.I84V|FBXO36_ENST00000409992.1_Intron			Q8NEA4	FBX36_HUMAN	F-box protein 36	84										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)	7		Renal(207;0.0112)|all_lung(227;0.0179)|Lung NSC(271;0.0804)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;7.56e-14)|all cancers(144;7.74e-11)|Lung(119;0.00488)|LUSC - Lung squamous cell carcinoma(224;0.008)		AGACTATGTCATCAATTTGTG	0.348													50	69					0	0	0.01441	0	0	G	230861511	A	G	230861511	3	3	18	1	0	0	0	0	1	0	0	0	5778	217	8	3	260	3	FBXO36	2	230861511	Missense_Mutation	SNP	A	TCGA-CS-6668-01A-11D-1893-08	21748399	230861511	12337862	6	804											
NKD2	85409	broad.mit.edu	37	5	1038447	1038449	+	In_Frame_Del	DEL	CAC	CAC	-	rs3840989		TCGA-CS-6668-01A-11D-1893-08	TCGA-CS-6668-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d414e076-dcb6-4edf-adef-0abdc57354ea	7154a36b-c503-43f5-b291-89bd5ce2875f	g.chr5:1038447_1038449delCAC	ENST00000296849.5	+	10	1544_1546	c.1315_1317delCAC	c.(1315-1317)cacdel	p.H447del	NKD2_ENST00000274150.4_3'UTR|NKD2_ENST00000382730.2_In_Frame_Del_p.P86del	NM_033120.3	NP_149111.1	Q969F2	NKD2_HUMAN	naked cuticle homolog 2 (Drosophila)	447	His-rich.				exocytosis|Wnt receptor signaling pathway	cytoplasmic membrane-bounded vesicle|plasma membrane	calcium ion binding|ubiquitin protein ligase binding			breast(1)|central_nervous_system(3)|large_intestine(1)|lung(8)|pancreas(1)	14	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;3.28e-09)		Epithelial(17;0.00093)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00417)|Lung(60;0.165)			ccaccacgagcaccaccaccacc	0.69													2	4	---	---	---	---						-	1038449	CAC	-	1038447	7	5	18	1	0	1	0	1	0	0	0	0	10489	710	25	0	1353	0	NKD2	5	1038447	In_Frame_Del	DEL	CAC	TCGA-CS-6668-01A-11D-1893-08		1038447	179876813	7	805											
PCDHGA7	56108	broad.mit.edu	37	5	140764645	140764645	+	Missense_Mutation	SNP	G	G	A			TCGA-CS-6668-01A-11D-1893-08	TCGA-CS-6668-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d414e076-dcb6-4edf-adef-0abdc57354ea	7154a36b-c503-43f5-b291-89bd5ce2875f	g.chr5:140764645G>A	ENST00000518325.1	+	1	2179	c.2179G>A	c.(2179-2181)Gct>Act	p.A727T	PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_018920.2	NP_061743.1														NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTGCTGCAGGCTTCAGAAGG	0.637													50	42					0	0	0.01441	0	0	A	140764645	G	A	140764645	3	1	18	1	0	0	0	0	1	0	0	0	11606	1203	42	2	2181	2	PCDHGA7	5	140764645	Missense_Mutation	SNP	G	TCGA-CS-6668-01A-11D-1893-08	139726198	140764645	40150615	8	806											
RING1	6015	broad.mit.edu	37	6	33178997	33178997	+	Missense_Mutation	SNP	A	A	G			TCGA-CS-6668-01A-11D-1893-08	TCGA-CS-6668-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d414e076-dcb6-4edf-adef-0abdc57354ea	7154a36b-c503-43f5-b291-89bd5ce2875f	g.chr6:33178997A>G	ENST00000374656.4	+	5	726	c.518A>G	c.(517-519)gAa>gGa	p.E173G	RING1_ENST00000478431.1_3'UTR	NM_002931.3	NP_002922.2	Q06587	RING1_HUMAN	ring finger protein 1	173	Necessary for transcriptional repression (By similarity).				histone H2A monoubiquitination|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nuclear speck|PcG protein complex	protein binding|zinc ion binding			endometrium(5)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|skin(4)	17						AGTGGGGGGGAAGGAGAGCCC	0.632													4	270					0	0	0.009096	0	0	G	33178997	A	G	33178997	3	3	18	1	0	0	0	0	1	0	0	0	13426	246	9	3	532	3	RING1	6	33178997	Missense_Mutation	SNP	A	TCGA-CS-6668-01A-11D-1893-08		33178997	137936070	9	807											
CLIP2	7461	broad.mit.edu	37	7	73731911	73731911	+	Missense_Mutation	SNP	G	G	A	rs151111065	byFrequency	TCGA-CS-6668-01A-11D-1893-08	TCGA-CS-6668-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d414e076-dcb6-4edf-adef-0abdc57354ea	7154a36b-c503-43f5-b291-89bd5ce2875f	g.chr7:73731911G>A	ENST00000223398.6	+	2	362	c.35G>A	c.(34-36)cGt>cAt	p.R12H	CLIP2_ENST00000395060.1_Missense_Mutation_p.R12H|CLIP2_ENST00000361545.5_Missense_Mutation_p.R12H	NM_003388.4	NP_003379	Q9UDT6	CLIP2_HUMAN	CAP-GLY domain containing linker protein 2	12						microtubule associated complex				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						CCCCCCGGCCGTGGGGGGAAG	0.662													35	102					0	0	0.003755	0	0	A	73731911	G	A	73731911	3	1	18	1	0	0	0	0	1	0	0	0	3556	1145	40	1	37	1	CLIP2	7	73731911	Missense_Mutation	SNP	G	TCGA-CS-6668-01A-11D-1893-08		73731911	85406752	10	808											
SRRM3	222183	broad.mit.edu	37	7	75896665	75896665	+	Missense_Mutation	SNP	G	G	A			TCGA-CS-6668-01A-11D-1893-08	TCGA-CS-6668-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d414e076-dcb6-4edf-adef-0abdc57354ea	7154a36b-c503-43f5-b291-89bd5ce2875f	g.chr7:75896665G>A	ENST00000388802.4	+	11	1129	c.920G>A	c.(919-921)gGa>gAa	p.G307E	SRRM3_ENST00000326382.8_Missense_Mutation_p.G307E|SRRM3_ENST00000464752.1_3'UTR					serine/arginine repetitive matrix 3											NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|pancreas(1)	8						GGCGGCAGCGGATGGGGGTCG	0.751													3	5					0	0	0.009096	0	0	A	75896665	G	A	75896665	3	1	18	1	0	0	0	0	1	0	0	0	15226	1174	41	2	958	2	SRRM3	7	75896665	Missense_Mutation	SNP	G	TCGA-CS-6668-01A-11D-1893-08	2164754	75896665	83241998	11	809											
DLX5	1749	broad.mit.edu	37	7	96650149	96650149	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-6668-01A-11D-1893-08	TCGA-CS-6668-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d414e076-dcb6-4edf-adef-0abdc57354ea	7154a36b-c503-43f5-b291-89bd5ce2875f	g.chr7:96650149C>T	ENST00000222598.4	-	3	1242	c.769G>A	c.(769-771)Gca>Aca	p.A257T	DLX5_ENST00000493764.1_5'UTR	NM_005221.5	NP_005212.1	P56178	DLX5_HUMAN	distal-less homeobox 5	257					cell proliferation|endochondral ossification|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)	20	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)					TACCAGGATGCAGAGTTCTCC	0.652													33	32					0	0	0.003271	0	0	T	96650149	C	T	96650149	3	4	18	1	0	0	0	0	1	0	0	0	4602	710	25	2	104	2	DLX5	7	96650149	Missense_Mutation	SNP	C	TCGA-CS-6668-01A-11D-1893-08	20753484	96650149	62488514	12	810											
MKLN1	4289	broad.mit.edu	37	7	131128404	131128404	+	Silent	SNP	T	T	C			TCGA-CS-6668-01A-11D-1893-08	TCGA-CS-6668-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d414e076-dcb6-4edf-adef-0abdc57354ea	7154a36b-c503-43f5-b291-89bd5ce2875f	g.chr7:131128404T>C	ENST00000352689.6	+	11	1378	c.1338T>C	c.(1336-1338)tgT>tgC	p.C446C	MKLN1_ENST00000421797.2_Silent_p.C354C	NM_013255.4	NP_037387.2	Q9UL63	MKLN1_HUMAN	muskelin 1, intracellular mediator containing kelch motifs	446					signal transduction	cytoplasm	protein binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	28	Melanoma(18;0.162)					AGGACTCCTGTAATGCTGGGC	0.448													3	93					0	0	0.000602	0	0	C	131128404	T	C	131128404	2	2	18	1	0	0	0	0	0	0	0	1	9651	1644	57	3		3	MKLN1	7	131128404	Silent	SNP	T	TCGA-CS-6668-01A-11D-1893-08	34478255	131128404	28010259	13	811											
KIAA0368	23392	broad.mit.edu	37	9	114170943	114170943	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CS-6668-01A-11D-1893-08	TCGA-CS-6668-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d414e076-dcb6-4edf-adef-0abdc57354ea	7154a36b-c503-43f5-b291-89bd5ce2875f	g.chr9:114170943G>A	ENST00000259335.4	-	25	3093	c.3094C>T	c.(3094-3096)Cga>Tga	p.R1032*	KIAA0368_ENST00000338205.5_Nonsense_Mutation_p.R854*	NM_001080398.1	NP_001073867.1			KIAA0368											NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						TGGATTGCTCGTTCTTTCATC	0.398													11	5					0	0	0.010729	0	0	A	114170943	G	A	114170943	4	1	18	1	0	0	0	0	0	1	0	0	8213	1153	40	1	3067	1	KIAA0368	9	114170943	Nonsense_Mutation	SNP	G	TCGA-CS-6668-01A-11D-1893-08		114170943	27042488	14	812											
MORN5	254956	broad.mit.edu	37	9	124932034	124932034	+	Splice_Site	SNP	A	A	G			TCGA-CS-6668-01A-11D-1893-08	TCGA-CS-6668-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d414e076-dcb6-4edf-adef-0abdc57354ea	7154a36b-c503-43f5-b291-89bd5ce2875f	g.chr9:124932034A>G	ENST00000536616.1	+	3	344	c.306A>G	c.(304-306)gcA>gcG	p.A102A	MORN5_ENST00000373764.3_Splice_Site_p.A102A|MORN5_ENST00000486801.1_Intron			Q5VZ52	MORN5_HUMAN	MORN repeat containing 5	102										endometrium(3)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	9						TGAAGCCTGCAGGTACCCAGG	0.478													3	116					0	0	0.004672	0	0	G	124932034	A	G	124932034	5	3	18	1	0	0	0	0	0	0	1	0	9760	202	7	3	316	3	MORN5	9	124932034	Splice_Site	SNP	A	TCGA-CS-6668-01A-11D-1893-08	10761091	124932034	16281397	15	813											
NOTCH1	4851	broad.mit.edu	37	9	139413126	139413126	+	Missense_Mutation	SNP	C	C	G			TCGA-CS-6668-01A-11D-1893-08	TCGA-CS-6668-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d414e076-dcb6-4edf-adef-0abdc57354ea	7154a36b-c503-43f5-b291-89bd5ce2875f	g.chr9:139413126C>G	ENST00000277541.6	-	6	1091	c.1016G>C	c.(1015-1017)tGt>tCt	p.C339S		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	339	EGF-like 9; calcium-binding (Potential).				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GGCGCTGGCACAGTCATCAAT	0.637			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			3	75					0	0	0.004672	0	0	G	139413126	C	G	139413126	3	3	18	1	0	0	0	0	1	0	0	0	10594	478	17	5	6767	5	NOTCH1	9	139413126	Missense_Mutation	SNP	C	TCGA-CS-6668-01A-11D-1893-08	14481092	139413126	1800305	16	814											
PLCE1	51196	broad.mit.edu	37	10	96084175	96084175	+	Missense_Mutation	SNP	G	G	A			TCGA-CS-6668-01A-11D-1893-08	TCGA-CS-6668-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d414e076-dcb6-4edf-adef-0abdc57354ea	7154a36b-c503-43f5-b291-89bd5ce2875f	g.chr10:96084175G>A	ENST00000371380.3	+	30	6806	c.6571G>A	c.(6571-6573)Gaa>Aaa	p.E2191K	PLCE1_ENST00000260766.3_Missense_Mutation_p.E2191K|NOC3L_ENST00000543788.1_Intron|PLCE1_ENST00000371375.1_Missense_Mutation_p.E1883K|PLCE1_ENST00000371385.3_Missense_Mutation_p.E1883K			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1		Ras-associating 2.				activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				TGTGCTTTTGGAAGAGGTGGT	0.448													124	141					0	0	0.01441	0	0	A	96084175	G	A	96084175	3	1	18	1	0	0	0	0	1	0	0	0	12082	1175	41	2	6975	2	PLCE1	10	96084175	Missense_Mutation	SNP	G	TCGA-CS-6668-01A-11D-1893-08		96084175	39450572	17	815											
RNH1	6050	broad.mit.edu	37	11	498031	498031	+	Missense_Mutation	SNP	G	G	A			TCGA-CS-6668-01A-11D-1893-08	TCGA-CS-6668-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d414e076-dcb6-4edf-adef-0abdc57354ea	7154a36b-c503-43f5-b291-89bd5ce2875f	g.chr11:498031G>A	ENST00000534797.1	-	7	2474	c.1067C>T	c.(1066-1068)gCg>gTg	p.A356V	RNH1_ENST00000438658.2_Missense_Mutation_p.A356V|RNH1_ENST00000397615.2_Missense_Mutation_p.A356V|RNH1_ENST00000533410.1_Missense_Mutation_p.A356V|RNH1_ENST00000397604.3_Missense_Mutation_p.A356V|RNH1_ENST00000397614.1_Missense_Mutation_p.A356V|RNH1_ENST00000354420.2_Missense_Mutation_p.A356V|RNH1_ENST00000356187.5_Missense_Mutation_p.A356V			P13489	RINI_HUMAN	ribonuclease/angiogenin inhibitor 1	356					mRNA catabolic process|regulation of angiogenesis	angiogenin-PRI complex|cytoplasm	protein binding|ribonuclease inhibitor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	10		all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;1.26e-26)|Epithelial(43;1.34e-25)|OV - Ovarian serous cystadenocarcinoma(40;5.31e-20)|BRCA - Breast invasive adenocarcinoma(625;8.01e-05)|Lung(200;0.0378)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CCGCACGCCCGCATCCTCCAG	0.612													4	109					0	0	0.009096	0	0	A	498031	G	A	498031	3	1	18	1	0	0	0	0	1	0	0	0	13556	1087	38	1	330	1	RNH1	11	498031	Missense_Mutation	SNP	G	TCGA-CS-6668-01A-11D-1893-08		498031	134508485	18	816											
LTBP3	4054	broad.mit.edu	37	11	65321228	65321228	+	Missense_Mutation	SNP	G	G	A			TCGA-CS-6668-01A-11D-1893-08	TCGA-CS-6668-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d414e076-dcb6-4edf-adef-0abdc57354ea	7154a36b-c503-43f5-b291-89bd5ce2875f	g.chr11:65321228G>A	ENST00000301873.5	-	3	1076	c.808C>T	c.(808-810)Ccg>Tcg	p.P270S	LTBP3_ENST00000536982.1_Intron|LTBP3_ENST00000322147.4_Missense_Mutation_p.P270S	NM_001130144.2	NP_001123616.1	Q9NS15	LTBP3_HUMAN	latent transforming growth factor beta binding protein 3	270						extracellular region	calcium ion binding|growth factor binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(3)	23						TGGGTGGGCGGCCGGGGGTGC	0.677													3	15					0	0	0.009096	0	0	A	65321228	G	A	65321228	3	1	18	1	0	0	0	0	1	0	0	0	9120	1203	42	2	3207	2	LTBP3	11	65321228	Missense_Mutation	SNP	G	TCGA-CS-6668-01A-11D-1893-08	64823197	65321228	69685288	19	817											
UNC93B1	81622	broad.mit.edu	37	11	67764189	67764189	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-6668-01A-11D-1893-08	TCGA-CS-6668-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d414e076-dcb6-4edf-adef-0abdc57354ea	7154a36b-c503-43f5-b291-89bd5ce2875f	g.chr11:67764189C>T	ENST00000227471.2	-	9	1049	c.970G>A	c.(970-972)Ggc>Agc	p.G324S	UNC93B1_ENST00000530331.1_5'UTR	NM_030930.2	NP_112192.2	Q9H1C4	UN93B_HUMAN	unc-93 homolog B1 (C. elegans)	325					innate immune response|intracellular protein transport|response to virus|toll-like receptor 3 signaling pathway|toll-like receptor 7 signaling pathway|toll-like receptor 9 signaling pathway	early phagosome|endoplasmic reticulum membrane|endosome|integral to membrane|lysosome											AAGATGTTGCCCCAGCCCACG	0.622													3	2					0	0	0.009096	0	0	T	67764189	C	T	67764189	3	4	18	1	0	0	0	0	1	0	0	0	17057	623	22	2	836	2	UNC93B1	11	67764189	Missense_Mutation	SNP	C	TCGA-CS-6668-01A-11D-1893-08	2442961	67764189	67242327	20	818											
NCAM1	4684	broad.mit.edu	37	11	113102455	113102456	+	In_Frame_Ins	INS	-	-	CCCTCT			TCGA-CS-6668-01A-11D-1893-08	TCGA-CS-6668-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d414e076-dcb6-4edf-adef-0abdc57354ea	7154a36b-c503-43f5-b291-89bd5ce2875f	g.chr11:113102455_113102456insCCCTCT	ENST00000316851.7	+	9	1148_1149	c.1148_1149insCCCTCT	c.(1147-1152)tacatc>taCCCTCTcatc	p.383_384YI>YPLI	NCAM1_ENST00000397957.4_3'UTR|NCAM1_ENST00000401611.2_In_Frame_Ins_p.392_393YI>YPLI|NCAM1_ENST00000533760.1_In_Frame_Ins_p.265_266YI>YPLI	NM_001242607.1|NM_181351.4	NP_001229536.1|NP_851996.2	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1	393	Ig-like C2-type 4.				axon guidance|interferon-gamma-mediated signaling pathway	anchored to membrane|extracellular region|Golgi membrane|integral to membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		GCCGGAGAGTACATCTGCACCG	0.594													9	113	---	---	---	---						CCCTCT	113102456	-	CCCTCT	113102455	7	5	18	1	0	1	1	0	0	0	0	0	10249	391	14	0	1217	0	NCAM1	11	113102455	In_Frame_Ins	INS	-	TCGA-CS-6668-01A-11D-1893-08	45338266	113102455	21904061	21	819											
BCL9L	283149	broad.mit.edu	37	11	118779318	118779318	+	Missense_Mutation	SNP	A	A	G			TCGA-CS-6668-01A-11D-1893-08	TCGA-CS-6668-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d414e076-dcb6-4edf-adef-0abdc57354ea	7154a36b-c503-43f5-b291-89bd5ce2875f	g.chr11:118779318A>G	ENST00000334801.3	-	2	1037	c.73T>C	c.(73-75)Tcc>Ccc	p.S25P	BCL9L_ENST00000526143.1_5'UTR	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	25					negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		transcription coactivator activity			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		CCGCGGGGGGACAGCGGCGGG	0.592													3	113					0	0	0.00308	0	0	G	118779318	A	G	118779318	3	3	18	1	0	0	0	0	1	0	0	0	1380	275	10	3	4454	3	BCL9L	11	118779318	Missense_Mutation	SNP	A	TCGA-CS-6668-01A-11D-1893-08	5676863	118779318	16227198	22	820											
NT5DC3	51559	broad.mit.edu	37	12	104179169	104179169	+	Missense_Mutation	SNP	A	A	G			TCGA-CS-6668-01A-11D-1893-08	TCGA-CS-6668-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d414e076-dcb6-4edf-adef-0abdc57354ea	7154a36b-c503-43f5-b291-89bd5ce2875f	g.chr12:104179169A>G	ENST00000392876.3	-	12	1313	c.1273T>C	c.(1273-1275)Tac>Cac	p.Y425H		NM_001031701.2	NP_001026871.1	Q86UY8	NT5D3_HUMAN	5'-nucleotidase domain containing 3	425							hydrolase activity|metal ion binding			NS(1)|breast(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(15)|ovary(2)|skin(1)|stomach(2)	30						GTTTGAATGTATTGCTCCGTG	0.428													45	47					0	0	0.013114	0	0	G	104179169	A	G	104179169	3	3	18	1	0	0	0	0	1	0	0	0	10740	449	16	3	385	3	NT5DC3	12	104179169	Missense_Mutation	SNP	A	TCGA-CS-6668-01A-11D-1893-08		104179169	29672726	23	821											
TCP11L2	255394	broad.mit.edu	37	12	106729466	106729466	+	Missense_Mutation	SNP	A	A	C			TCGA-CS-6668-01A-11D-1893-08	TCGA-CS-6668-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d414e076-dcb6-4edf-adef-0abdc57354ea	7154a36b-c503-43f5-b291-89bd5ce2875f	g.chr12:106729466A>C	ENST00000299045.3	+	7	996	c.822A>C	c.(820-822)gaA>gaC	p.E274D		NM_152772.1	NP_689985.1	Q8N4U5	T11L2_HUMAN	t-complex 11, testis-specific-like 2	274										endometrium(2)|kidney(2)|large_intestine(5)|ovary(3)|prostate(1)|urinary_tract(2)	15						TAAATGAAGAATTATTTTCTC	0.398													33	36					0	0	0.010818	0	0	C	106729466	A	C	106729466	3	2	18	1	0	0	0	0	1	0	0	0	15774	98	4	4	844	4	TCP11L2	12	106729466	Missense_Mutation	SNP	A	TCGA-CS-6668-01A-11D-1893-08	2550297	106729466	27122429	24	822											
TCF12	6938	broad.mit.edu	37	15	57523456	57523457	+	Splice_Site	INS	-	-	T			TCGA-CS-6668-01A-11D-1893-08	TCGA-CS-6668-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d414e076-dcb6-4edf-adef-0abdc57354ea	7154a36b-c503-43f5-b291-89bd5ce2875f	g.chr15:57523456_57523457insT	ENST00000267811.5	+	9	989		c.e9+1		TCF12_ENST00000537840.1_Splice_Site|TCF12_ENST00000560764.1_Splice_Site|TCF12_ENST00000543579.1_Splice_Site|TCF12_ENST00000333725.5_Splice_Site|TCF12_ENST00000557843.1_Splice_Site|TCF12_ENST00000438423.2_Splice_Site|TCF12_ENST00000343827.3_Splice_Site|TCF12_ENST00000452095.2_Splice_Site	NM_003205.3|NM_207038.1	NP_003196.1|NP_996921.1	Q99081	HTF4_HUMAN	transcription factor 12						immune response|muscle organ development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity		TCF12/NR4A3(2)	breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	36		Colorectal(260;0.0907)		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)		TTTATGCAAGGTAAGTACTACC	0.386			T	TEC	extraskeletal myxoid chondrosarcoma								43	59	---	---	---	---						T	57523457	-	T	57523456	8	5	18	1	0	1	1	0	0	0	1	0	15747	1275	44	0	789	0	TCF12	15	57523456	Splice_Site	INS	-	TCGA-CS-6668-01A-11D-1893-08		57523456	45007936	25	823											
POLG	5428	broad.mit.edu	37	15	89864982	89864982	+	Silent	SNP	G	G	A			TCGA-CS-6668-01A-11D-1893-08	TCGA-CS-6668-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d414e076-dcb6-4edf-adef-0abdc57354ea	7154a36b-c503-43f5-b291-89bd5ce2875f	g.chr15:89864982G>A	ENST00000268124.5	-	16	2916	c.2583C>T	c.(2581-2583)acC>acT	p.T861T	POLG_ENST00000442287.2_Silent_p.T861T	NM_001126131.1|NM_002693.2	NP_001119603.1|NP_002684.1	P54098	DPOG1_HUMAN	polymerase (DNA directed), gamma	861					base-excision repair, gap-filling|cell death|DNA-dependent DNA replication	mitochondrial nucleoid	DNA binding|DNA-directed DNA polymerase activity|protease binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2)	33	Lung NSC(78;0.0472)|all_lung(78;0.089)		STAD - Stomach adenocarcinoma(125;0.165)			CATTGCTGGCGGTGAGCCATG	0.602								DNA polymerases (catalytic subunits)					49	65					0	0	0.01441	0	0	A	89864982	G	A	89864982	2	1	18	1	0	0	0	0	0	0	0	1	12248	1103	39	1		1	POLG	15	89864982	Silent	SNP	G	TCGA-CS-6668-01A-11D-1893-08	32341526	89864982	12666410	26	824											
MARVELD3	91862	broad.mit.edu	37	16	71668568	71668568	+	Silent	SNP	C	C	T			TCGA-CS-6668-01A-11D-1893-08	TCGA-CS-6668-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d414e076-dcb6-4edf-adef-0abdc57354ea	7154a36b-c503-43f5-b291-89bd5ce2875f	g.chr16:71668568C>T	ENST00000268485.3	+	3	1112	c.1068C>T	c.(1066-1068)ttC>ttT	p.F356F	MARVELD3_ENST00000299952.4_Intron|MARVELD3_ENST00000565261.1_Intron	NM_052858.4	NP_443090.4	Q96A59	MALD3_HUMAN	MARVEL domain containing 3	356	MARVEL.					integral to membrane				NS(1)|endometrium(3)|large_intestine(5)|lung(6)|skin(2)	17		Ovarian(137;0.125)				GCTGCAGTTTCCACGGAGCAG	0.542													41	41					0	0	0.006999	0	0	T	71668568	C	T	71668568	2	4	18	1	0	0	0	0	0	0	0	1	9369	854	30	2		2	MARVELD3	16	71668568	Silent	SNP	C	TCGA-CS-6668-01A-11D-1893-08		71668568	18686185	27	825											
OR1A1	8383	broad.mit.edu	37	17	3119076	3119076	+	Silent	SNP	C	C	T			TCGA-CS-6668-01A-11D-1893-08	TCGA-CS-6668-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d414e076-dcb6-4edf-adef-0abdc57354ea	7154a36b-c503-43f5-b291-89bd5ce2875f	g.chr17:3119076C>T	ENST00000304094.1	+	1	162	c.162C>T	c.(160-162)cgC>cgT	p.R54R		NM_014565.2	NP_055380.2	Q9P1Q5	OR1A1_HUMAN	olfactory receptor, family 1, subfamily A, member 1	54					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	23						CTGATGTTCGCCTTCACAACC	0.458													7	362					0	0	0.006214	0	0	T	3119076	C	T	3119076	2	4	18	1	0	0	0	0	0	0	0	1	10997	726	26	2		2	OR1A1	17	3119076	Silent	SNP	C	TCGA-CS-6668-01A-11D-1893-08		3119076	78076134	28	826											
KRT34	3885	broad.mit.edu	37	17	39538275	39538275	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-6668-01A-11D-1893-08	TCGA-CS-6668-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d414e076-dcb6-4edf-adef-0abdc57354ea	7154a36b-c503-43f5-b291-89bd5ce2875f	g.chr17:39538275C>T	ENST00000394001.1	-	1	380	c.350G>A	c.(349-351)cGt>cAt	p.R117H		NM_021013.3	NP_066293.2	O76011	KRT34_HUMAN	keratin 34	117	Coil 1A.|Rod.				epidermis development	intermediate filament	protein binding|structural molecule activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Breast(137;0.000496)				CTCCAGCTGACGCACCTTCTC	0.597													78	120					0	0	0.01441	0	0	T	39538275	C	T	39538275	3	4	18	1	0	0	0	0	1	0	0	0	8514	536	19	1	988	1	KRT34	17	39538275	Missense_Mutation	SNP	C	TCGA-CS-6668-01A-11D-1893-08	36419199	39538275	41656935	29	827											
DSG2	1829	broad.mit.edu	37	18	29102122	29102122	+	Silent	SNP	C	C	T			TCGA-CS-6668-01A-11D-1893-08	TCGA-CS-6668-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d414e076-dcb6-4edf-adef-0abdc57354ea	7154a36b-c503-43f5-b291-89bd5ce2875f	g.chr18:29102122C>T	ENST00000261590.8	+	6	809	c.600C>T	c.(598-600)atC>atT	p.I200I	DSG2_ENST00000585206.1_Silent_p.I200I	NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	desmoglein 2	200	Cadherin 2.				cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			CCTATAGAATCGTATCTCTGG	0.378													17	41					0	0	0.004007	0	0	T	29102122	C	T	29102122	2	4	18	1	0	0	0	0	0	0	0	1	4803	874	31	1		1	DSG2	18	29102122	Silent	SNP	C	TCGA-CS-6668-01A-11D-1893-08		29102122	48975126	30	828											
KCNG2	26251	broad.mit.edu	37	18	77624219	77624219	+	Silent	SNP	G	G	A			TCGA-CS-6668-01A-11D-1893-08	TCGA-CS-6668-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d414e076-dcb6-4edf-adef-0abdc57354ea	7154a36b-c503-43f5-b291-89bd5ce2875f	g.chr18:77624219G>A	ENST00000316249.3	+	1	552	c.552G>A	c.(550-552)gtG>gtA	p.V184V		NM_012283.1	NP_036415.1	Q9UJ96	KCNG2_HUMAN	potassium voltage-gated channel, subfamily G, member 2	184					energy reserve metabolic process|regulation of heart contraction|regulation of insulin secretion	voltage-gated potassium channel complex	delayed rectifier potassium channel activity			breast(2)|endometrium(4)|lung(7)|skin(1)|upper_aerodigestive_tract(4)	18		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244)		GCGTGTCCGTGTCCTTCGTGG	0.766													14	33					0	0	0.003163	0	0	A	77624219	G	A	77624219	2	1	18	1	0	0	0	0	0	0	0	1	8072	1364	48	2		2	KCNG2	18	77624219	Silent	SNP	G	TCGA-CS-6668-01A-11D-1893-08	48522097	77624219	453029	31	829											
CD97	976	broad.mit.edu	37	19	14508025	14508025	+	Silent	SNP	C	C	T			TCGA-CS-6668-01A-11D-1893-08	TCGA-CS-6668-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d414e076-dcb6-4edf-adef-0abdc57354ea	7154a36b-c503-43f5-b291-89bd5ce2875f	g.chr19:14508025C>T	ENST00000242786.5	+	6	695	c.615C>T	c.(613-615)acC>acT	p.T205T	CD97_ENST00000587728.1_Intron|CD97_ENST00000358600.3_Intron|CD97_ENST00000357355.3_Intron	NM_078481.3	NP_510966.1	P48960	CD97_HUMAN	CD97 molecule	205	EGF-like 4; calcium-binding (Potential).				cell adhesion|cell-cell signaling|cellular component movement|immune response|inflammatory response|neuropeptide signaling pathway	extracellular space|integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						CAAACAATACCGTCTGTGAAG	0.587													96	130					0	0	0.01441	0	0	T	14508025	C	T	14508025	2	4	18	1	0	0	0	0	0	0	0	1	3071	639	23	1		1	CD97	19	14508025	Silent	SNP	C	TCGA-CS-6668-01A-11D-1893-08		14508025	44620958	32	830											
CIC	23152	broad.mit.edu	37	19	42795074	42795075	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CS-6668-01A-11D-1893-08	TCGA-CS-6668-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d414e076-dcb6-4edf-adef-0abdc57354ea	7154a36b-c503-43f5-b291-89bd5ce2875f	g.chr19:42795074_42795075insG	ENST00000572681.2	+	11	4949_4950	c.4881_4882insG	c.(4882-4884)gggfs	p.G1628fs	CIC_ENST00000160740.3_Frame_Shift_Ins_p.G719fs|CIC_ENST00000575354.2_Frame_Shift_Ins_p.G719fs			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	719					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CTCGGGTGCCTGGGGGCTCCCC	0.644			"Mis, F, S"		oligodendroglioma								12	8	---	---	---	---						G	42795075	-	G	42795074	7	5	18	1	0	1	1	0	0	0	0	0	3446	1567	55	0	2192	0	CIC	19	42795074	Frame_Shift_Ins	INS	-	TCGA-CS-6668-01A-11D-1893-08	28287049	42795074	16333909	33	831											
ARFGEF2	10564	broad.mit.edu	37	20	47626800	47626800	+	Missense_Mutation	SNP	T	T	C			TCGA-CS-6668-01A-11D-1893-08	TCGA-CS-6668-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d414e076-dcb6-4edf-adef-0abdc57354ea	7154a36b-c503-43f5-b291-89bd5ce2875f	g.chr20:47626800T>C	ENST00000371917.4	+	27	3616	c.3616T>C	c.(3616-3618)Tgc>Cgc	p.C1206R		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	1206					exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			GGCGATCCGCTGCATTGCCCA	0.537													27	83					0	0	0.003954	0	0	C	47626800	T	C	47626800	3	2	18	1	0	0	0	0	1	0	0	0	850	1580	55	3	3722	3	ARFGEF2	20	47626800	Missense_Mutation	SNP	T	TCGA-CS-6668-01A-11D-1893-08		47626800	15398720	34	832											
VSIG4	11326	broad.mit.edu	37	X	65247365	65247365	+	Missense_Mutation	SNP	G	G	A			TCGA-CS-6668-01A-11D-1893-08	TCGA-CS-6668-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d414e076-dcb6-4edf-adef-0abdc57354ea	7154a36b-c503-43f5-b291-89bd5ce2875f	g.chrX:65247365G>A	ENST00000455586.2	-	5	887	c.761C>T	c.(760-762)aCa>aTa	p.T254I	VSIG4_ENST00000374737.4_Missense_Mutation_p.T254I|VSIG4_ENST00000412866.2_Missense_Mutation_p.T160I	NM_001184830.1	NP_001171759.1	Q9Y279	VSIG4_HUMAN	V-set and immunoglobulin domain containing 4	254					complement activation, alternative pathway	integral to membrane	protein binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CACTGTAGATGTTGCTATGAA	0.468													8	14					0	0	0.00308	0	0	A	65247365	G	A	65247365	3	1	18	1	0	0	0	0	1	0	0	0	17285	1377	48	2	458	2	VSIG4	23	65247365	Missense_Mutation	SNP	G	TCGA-CS-6668-01A-11D-1893-08		65247365	90023195	35	833											
LGI2	55203	broad.mit.edu	37	4	25005303	25005303	+	Missense_Mutation	SNP	A	A	G			TCGA-CS-6669-01A-11D-1893-08	TCGA-CS-6669-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	218a9531-9264-43bc-8535-858d4cb0919e	4bc99b08-8b67-443e-88a4-03edef39d433	g.chr4:25005303A>G	ENST00000382114.4	-	8	1593	c.1408T>C	c.(1408-1410)Ttt>Ctt	p.F470L		NM_018176.3	NP_060646.2	Q8N0V4	LGI2_HUMAN	leucine-rich repeat LGI family, member 2	470						extracellular region				breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(2)	33		Breast(46;0.173)				TTAAAAGAAAAGGGCTGCAGG	0.488													3	137					0	0	0.004672	0	0	G	25005303	A	G	25005303	3	3	19	1	0	0	0	0	1	0	0	0	8792	72	3	3	233	3	LGI2	4	25005303	Missense_Mutation	SNP	A	TCGA-CS-6669-01A-11D-1893-08		25005303	166148973	1	834											
MOCS1	4337	broad.mit.edu	37	6	39893572	39893572	+	Missense_Mutation	SNP	C	C	G	rs147580725		TCGA-CS-6669-01A-11D-1893-08	TCGA-CS-6669-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	218a9531-9264-43bc-8535-858d4cb0919e	4bc99b08-8b67-443e-88a4-03edef39d433	g.chr6:39893572C>G	ENST00000373186.4	-	2	405	c.268G>C	c.(268-270)Gag>Cag	p.E90Q	MOCS1_ENST00000308559.7_Missense_Mutation_p.E90Q|MOCS1_ENST00000340692.5_Missense_Mutation_p.E90Q|MOCS1_ENST00000373195.3_Missense_Mutation_p.E3Q|MOCS1_ENST00000373175.4_Missense_Mutation_p.E61Q|MOCS1_ENST00000425303.2_Missense_Mutation_p.E90Q|MOCS1_ENST00000373188.2_Missense_Mutation_p.E90Q|MOCS1_ENST00000432280.2_Missense_Mutation_p.E61Q	NM_005943.5	NP_005934.2	Q9NZB8	MOCS1_HUMAN	molybdenum cofactor synthesis 1	90	Molybdenum cofactor biosynthesis protein A.				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol|molybdopterin synthase complex|nucleus	4 iron, 4 sulfur cluster binding|catalytic activity|GTP binding|metal ion binding			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	21	Ovarian(28;0.0355)|Colorectal(47;0.196)					ACCCCCTCCTCGGGCATGCAG	0.612													3	94					0	0	0.004672	0	0	G	39893572	C	G	39893572	3	3	19	1	0	0	0	0	1	0	0	0	9739	893	31	5	921	5	MOCS1	6	39893572	Missense_Mutation	SNP	C	TCGA-CS-6669-01A-11D-1893-08		39893572	131221495	2	835											
LRP1	4035	broad.mit.edu	37	12	57577587	57577587	+	Missense_Mutation	SNP	G	G	T			TCGA-CS-6669-01A-11D-1893-08	TCGA-CS-6669-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	218a9531-9264-43bc-8535-858d4cb0919e	4bc99b08-8b67-443e-88a4-03edef39d433	g.chr12:57577587G>T	ENST00000243077.3	+	36	6290	c.5824G>T	c.(5824-5826)Ggc>Tgc	p.G1942C		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	1942					aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	GGTGGACATGGGCCTGAGCAC	0.577													4	62					0.00024832	0.00148992	0.009096	1	0	T	57577587	G	T	57577587	3	4	19	1	0	0	0	0	1	0	0	0	8996	1232	43	5	5966	5	LRP1	12	57577587	Missense_Mutation	SNP	G	TCGA-CS-6669-01A-11D-1893-08		57577587	76274308	3	836											
YY1	7528	broad.mit.edu	37	14	100743846	100743846	+	Missense_Mutation	SNP	G	G	T			TCGA-CS-6669-01A-11D-1893-08	TCGA-CS-6669-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	218a9531-9264-43bc-8535-858d4cb0919e	4bc99b08-8b67-443e-88a4-03edef39d433	g.chr14:100743846G>T	ENST00000262238.4	+	5	1414	c.1154G>T	c.(1153-1155)tGc>tTc	p.C385F		NM_003403.3	NP_003394.1	P25490	TYY1_HUMAN	YY1 transcription factor	385	Involved in masking transactivation domain.				cell differentiation|cellular response to UV|double-strand break repair via homologous recombination|negative regulation of transcription from RNA polymerase II promoter|response to UV-C|spermatogenesis	Ino80 complex|nuclear matrix|plasma membrane	four-way junction DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding	p.C385F(1)		cervix(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(1)|prostate(4)|skin(1)	11		Melanoma(154;0.152)				CCCTATGTGTGCCCCTTCGAT	0.463													7	69					2.7689e-08	1.93823e-07	0.02938	1	0	T	100743846	G	T	100743846	3	4	19	1	0	0	0	0	1	0	0	0	17567	1319	46	5	1172	5	YY1	14	100743846	Missense_Mutation	SNP	G	TCGA-CS-6669-01A-11D-1893-08		100743846	6605694	4	837											
DBT	1629	broad.mit.edu	37	1	100696303	100696303	+	Missense_Mutation	SNP	G	G	A			TCGA-CS-6670-01A-11D-1893-08	TCGA-CS-6670-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44e94c3e-4910-440b-b21e-c0fcb9d9de16	b1a2bea4-c820-4301-ad17-0605363483bd	g.chr1:100696303G>A	ENST00000370132.4	-	4	432	c.419C>T	c.(418-420)aCg>aTg	p.T140M	DBT_ENST00000370131.3_Missense_Mutation_p.T140M	NM_001918.3	NP_001909.3	P11182	ODB2_HUMAN	dihydrolipoamide branched chain transacylase E2						branched chain family amino acid catabolic process|fatty-acyl-CoA biosynthetic process	microtubule cytoskeleton|mitochondrial alpha-ketoglutarate dehydrogenase complex|mitochondrial nucleoid	acyltransferase activity|cofactor binding|dihydrolipoyllysine-residue (2-methylpropanoyl)transferase activity|protein binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(1)	19		all_epithelial(167;5.4e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.0739)|all cancers(265;0.123)|COAD - Colon adenocarcinoma(174;0.154)|Lung(183;0.199)		TAAAGCTTCCGTTTCTATGTC	0.328													14	21					0	0	0.00245	0	0	A	100696303	G	A	100696303	3	1	20	1	0	0	0	0	1	0	0	0	4282	1145	40	1	1061	1	DBT	1	100696303	Missense_Mutation	SNP	G	TCGA-CS-6670-01A-11D-1893-08		100696303	148554318	1	838											
IGSF9	57549	broad.mit.edu	37	1	159900616	159900616	+	Missense_Mutation	SNP	A	A	G			TCGA-CS-6670-01A-11D-1893-08	TCGA-CS-6670-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44e94c3e-4910-440b-b21e-c0fcb9d9de16	b1a2bea4-c820-4301-ad17-0605363483bd	g.chr1:159900616A>G	ENST00000368094.1	-	14	1876	c.1679T>C	c.(1678-1680)tTg>tCg	p.L560S	IGSF9_ENST00000361509.3_Missense_Mutation_p.L544S|IGSF9_ENST00000493195.1_5'UTR	NM_001135050.1	NP_001128522.1	Q9P2J2	TUTLA_HUMAN	immunoglobulin superfamily, member 9	560	Fibronectin type-III 1.					cell junction|integral to membrane|synapse				central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			AGGCACTGCCAAGGACACCCA	0.617													10	38					0	0	0.006214	0	0	G	159900616	A	G	159900616	3	3	20	1	0	0	0	0	1	0	0	0	7649	131	5	3	1892	3	IGSF9	1	159900616	Missense_Mutation	SNP	A	TCGA-CS-6670-01A-11D-1893-08	59204313	159900616	89350005	2	839											
CDK18	5129	broad.mit.edu	37	1	205492349	205492349	+	Silent	SNP	C	C	T			TCGA-CS-6670-01A-11D-1893-08	TCGA-CS-6670-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44e94c3e-4910-440b-b21e-c0fcb9d9de16	b1a2bea4-c820-4301-ad17-0605363483bd	g.chr1:205492349C>T	ENST00000360066.2	+	2	355	c.54C>T	c.(52-54)ccC>ccT	p.P18P	CDK18_ENST00000429964.2_Silent_p.P18P|CDK18_ENST00000509056.1_Intron|CDK18_ENST00000506784.1_Silent_p.P18P	NM_002596.3|NM_212502.2|NM_212503.2	NP_002587.2|NP_997667.1|NP_997668.1	Q07002	CDK18_HUMAN	cyclin-dependent kinase 18	16							ATP binding|cyclin-dependent protein kinase activity|protein binding|signal transducer activity			breast(2)|endometrium(2)|large_intestine(2)|lung(10)|stomach(2)|urinary_tract(1)	19						TGTCAGTGCCCCGCACTGAGA	0.552													40	62					0	0	0.007835	0	0	T	205492349	C	T	205492349	2	4	20	1	0	0	0	0	0	0	0	1	3156	610	22	2		2	CDK18	1	205492349	Silent	SNP	C	TCGA-CS-6670-01A-11D-1893-08	45591733	205492349	43758272	3	840											
URB2	9816	broad.mit.edu	37	1	229773892	229773892	+	Missense_Mutation	SNP	G	G	A			TCGA-CS-6670-01A-11D-1893-08	TCGA-CS-6670-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44e94c3e-4910-440b-b21e-c0fcb9d9de16	b1a2bea4-c820-4301-ad17-0605363483bd	g.chr1:229773892G>A	ENST00000258243.2	+	4	3668	c.3532G>A	c.(3532-3534)Gcc>Acc	p.A1178T		NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	1178						nucleolus				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						TTTTCAGGCAGCCTTGCAGTT	0.498													27	89					0	0	0.005443	0	0	A	229773892	G	A	229773892	3	1	20	1	0	0	0	0	1	0	0	0	17085	971	34	2	3542	2	URB2	1	229773892	Missense_Mutation	SNP	G	TCGA-CS-6670-01A-11D-1893-08	24281543	229773892	19476729	4	841											
FOSL2	2355	broad.mit.edu	37	2	28627127	28627127	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-6670-01A-11D-1893-08	TCGA-CS-6670-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44e94c3e-4910-440b-b21e-c0fcb9d9de16	b1a2bea4-c820-4301-ad17-0605363483bd	g.chr2:28627127C>T	ENST00000264716.4	+	2	1119	c.256C>T	c.(256-258)Ccg>Tcg	p.P86S	FOSL2_ENST00000545753.1_Missense_Mutation_p.P47S|FOSL2_ENST00000460736.1_3'UTR|FOSL2_ENST00000379619.1_Missense_Mutation_p.P61S	NM_005253.3	NP_005244.1	P15408	FOSL2_HUMAN	FOS-like antigen 2	86					cell death|regulation of transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(172;0.155)					CAGCCCCCTGCCGGGCCTGGC	0.647													4	138					0	0	0.000602	0	0	T	28627127	C	T	28627127	3	4	20	1	0	0	0	0	1	0	0	0	6021	739	26	2	262	2	FOSL2	2	28627127	Missense_Mutation	SNP	C	TCGA-CS-6670-01A-11D-1893-08		28627127	214572246	5	842											
PTPN4	5775	broad.mit.edu	37	2	120718482	120718482	+	Missense_Mutation	SNP	G	G	A			TCGA-CS-6670-01A-11D-1893-08	TCGA-CS-6670-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44e94c3e-4910-440b-b21e-c0fcb9d9de16	b1a2bea4-c820-4301-ad17-0605363483bd	g.chr2:120718482G>A	ENST00000263708.2	+	23	3004	c.2233G>A	c.(2233-2235)Ggc>Agc	p.G745S	PTPN4_ENST00000544261.1_Missense_Mutation_p.G378S	NM_002830.3	NP_002821.1	P29074	PTN4_HUMAN	protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte)	745	Tyrosine-protein phosphatase.					cytoplasm|cytoskeleton|internal side of plasma membrane	cytoskeletal protein binding|non-membrane spanning protein tyrosine phosphatase activity	p.G745S(1)		endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|urinary_tract(1)	30					Alendronate(DB00630)	TTGGGAACAAGGCTCCTCTAT	0.393													55	83					0	0	0.01441	0	0	A	120718482	G	A	120718482	3	1	20	1	0	0	0	0	1	0	0	0	12842	1000	35	2	2319	2	PTPN4	2	120718482	Missense_Mutation	SNP	G	TCGA-CS-6670-01A-11D-1893-08	92091355	120718482	122480891	6	843											
MYO3B	140469	broad.mit.edu	37	2	171264279	171264279	+	Missense_Mutation	SNP	G	G	A			TCGA-CS-6670-01A-11D-1893-08	TCGA-CS-6670-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44e94c3e-4910-440b-b21e-c0fcb9d9de16	b1a2bea4-c820-4301-ad17-0605363483bd	g.chr2:171264279G>A	ENST00000334231.6	+	22	2602	c.2602G>A	c.(2602-2604)Gat>Aat	p.D868N	MYO3B_ENST00000409044.3_Missense_Mutation_p.D859N|MYO3B_ENST00000408978.4_Missense_Mutation_p.D859N|MYO3B_ENST00000602629.1_3'UTR			Q8WXR4	MYO3B_HUMAN	myosin IIIB	859	Myosin head-like.				response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						TCTCCCTGCCGATGTGGTTGT	0.463													6	184					0	0	0.001984	0	0	A	171264279	G	A	171264279	3	1	20	1	0	0	0	0	1	0	0	0	10125	1058	37	1	2661	1	MYO3B	2	171264279	Missense_Mutation	SNP	G	TCGA-CS-6670-01A-11D-1893-08	50545797	171264279	71935094	7	844											
TTN	7273	broad.mit.edu	37	2	179589234	179589234	+	Silent	SNP	C	C	T			TCGA-CS-6670-01A-11D-1893-08	TCGA-CS-6670-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44e94c3e-4910-440b-b21e-c0fcb9d9de16	b1a2bea4-c820-4301-ad17-0605363483bd	g.chr2:179589234C>T	ENST00000589042.1	-	72	21092	c.20868G>A	c.(20866-20868)ccG>ccA	p.P6956P	TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Silent_p.P6639P|RP11-171I2.1_ENST00000590024.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Silent_p.P5712P	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	6639	Ig-like 51.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCACCGTCATCGGTCCTGCCT	0.478													16	36					0	0	0.00499	0	0	T	179589234	C	T	179589234	2	4	20	1	0	0	0	0	0	0	0	1	16797	871	31	1		1	TTN	2	179589234	Silent	SNP	C	TCGA-CS-6670-01A-11D-1893-08	8324955	179589234	63610139	8	845											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-CS-6670-01A-11D-1893-08	TCGA-CS-6670-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44e94c3e-4910-440b-b21e-c0fcb9d9de16	b1a2bea4-c820-4301-ad17-0605363483bd	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								32	45					0	0	0.012213	0	0	T	209113112	C	T	209113112	3	4	20	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-CS-6670-01A-11D-1893-08	29523878	209113112	34086261	9	846											
CXCR2	3579	broad.mit.edu	37	2	218999633	218999633	+	Missense_Mutation	SNP	G	G	A	rs75759064	by1000genomes	TCGA-CS-6670-01A-11D-1893-08	TCGA-CS-6670-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44e94c3e-4910-440b-b21e-c0fcb9d9de16	b1a2bea4-c820-4301-ad17-0605363483bd	g.chr2:218999633G>A	ENST00000318507.2	+	3	536	c.109G>A	c.(109-111)Gcc>Acc	p.A37T		NM_001557.3	NP_001548.1	P25025	CXCR2_HUMAN	chemokine (C-X-C motif) receptor 2	37					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular defense response|dendritic cell chemotaxis|inflammatory response|neutrophil activation|neutrophil chemotaxis|positive regulation of cell proliferation	cell surface|integral to plasma membrane|mast cell granule	interleukin-8 receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(11)|skin(1)|stomach(1)	22						ACTAGATGCCGCCCCATGTGA	0.448													7	212					0	0	0.001984	0	0	A	218999633	G	A	218999633	3	1	20	1	0	0	0	0	1	0	0	0	4114	1087	38	1	111	1	CXCR2	2	218999633	Missense_Mutation	SNP	G	TCGA-CS-6670-01A-11D-1893-08	9886521	218999633	24199740	10	847											
SP110	3431	broad.mit.edu	37	2	231036817	231036817	+	Missense_Mutation	SNP	T	T	C			TCGA-CS-6670-01A-11D-1893-08	TCGA-CS-6670-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44e94c3e-4910-440b-b21e-c0fcb9d9de16	b1a2bea4-c820-4301-ad17-0605363483bd	g.chr2:231036817T>C	ENST00000258381.6	-	16	1857	c.1780A>G	c.(1780-1782)Acc>Gcc	p.T594A	AC009950.2_ENST00000594622.1_RNA|SP110_ENST00000358662.4_Missense_Mutation_p.T594A|AC009950.2_ENST00000609120.1_RNA|AC009950.2_ENST00000595586.2_RNA	NM_080424.2	NP_536349	Q9HB58	SP110_HUMAN	SP110 nuclear body protein	594	Bromo.				interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|signal transducer activity|zinc ion binding			breast(4)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Renal(207;0.0112)|all_lung(227;0.0223)|Lung NSC(271;0.0983)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.169)		Epithelial(121;2.61e-12)|all cancers(144;6.39e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.0097)		CTCTCCAGGGTCTTAGATACA	0.522													5	159					0	0	0.000602	0	0	C	231036817	T	C	231036817	3	2	20	1	0	0	0	0	1	0	0	0	15015	1667	58	3	377	3	SP110	2	231036817	Missense_Mutation	SNP	T	TCGA-CS-6670-01A-11D-1893-08	12037184	231036817	12162556	11	848											
UGT1A7	54577	broad.mit.edu	37	2	234591431	234591431	+	Missense_Mutation	SNP	T	T	C			TCGA-CS-6670-01A-11D-1893-08	TCGA-CS-6670-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44e94c3e-4910-440b-b21e-c0fcb9d9de16	b1a2bea4-c820-4301-ad17-0605363483bd	g.chr2:234591431T>C	ENST00000373426.3	+	1	848	c.848T>C	c.(847-849)gTg>gCg	p.V283A	UGT1A9_ENST00000354728.4_Intron|UGT1A1_ENST00000609637.1_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A1_ENST00000373450.4_Intron	NM_019077.2	NP_061950.2														NS(1)|endometrium(6)|kidney(5)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|prostate(1)|skin(1)	33		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;8.93e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000412)|Lung(119;0.00333)|LUSC - Lung squamous cell carcinoma(224;0.00746)		GGAAAGCCAGTGCCTATGGTA	0.368													32	191					0	0	0.013726	0	0	C	234591431	T	C	234591431	3	2	20	1	0	0	0	0	1	0	0	0	17010	1696	59	3	850	3	UGT1A7	2	234591431	Missense_Mutation	SNP	T	TCGA-CS-6670-01A-11D-1893-08	3554614	234591431	8607942	12	849											
ULK4	54986	broad.mit.edu	37	3	41795900	41795900	+	Silent	SNP	A	A	G			TCGA-CS-6670-01A-11D-1893-08	TCGA-CS-6670-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44e94c3e-4910-440b-b21e-c0fcb9d9de16	b1a2bea4-c820-4301-ad17-0605363483bd	g.chr3:41795900A>G	ENST00000301831.4	-	22	2736	c.2274T>C	c.(2272-2274)taT>taC	p.Y758Y		NM_017886.2	NP_060356.2	Q96C45	ULK4_HUMAN	unc-51 like kinase 4	758							ATP binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1)	22				KIRC - Kidney renal clear cell carcinoma(284;0.214)		AAATCAAAATATATAGAAGAA	0.383													21	114					0	0	0.012319	0	0	G	41795900	A	G	41795900	2	3	20	1	0	0	0	0	0	0	0	1	17038	456	16	3		3	ULK4	3	41795900	Silent	SNP	A	TCGA-CS-6670-01A-11D-1893-08		41795900	156226530	13	850											
OR5H14	403273	broad.mit.edu	37	3	97868884	97868884	+	Missense_Mutation	SNP	A	A	G			TCGA-CS-6670-01A-11D-1893-08	TCGA-CS-6670-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44e94c3e-4910-440b-b21e-c0fcb9d9de16	b1a2bea4-c820-4301-ad17-0605363483bd	g.chr3:97868884A>G	ENST00000437310.1	+	1	715	c.655A>G	c.(655-657)Ata>Gta	p.I219V		NM_001005514.1	NP_001005514.1	A6NHG9	O5H14_HUMAN	olfactory receptor, family 5, subfamily H, member 14	219					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						TATATCTTACATATTTGTCCT	0.318													23	34					0	0	0.00278	0	0	G	97868884	A	G	97868884	3	3	20	1	0	0	0	0	1	0	0	0	11207	217	8	3	657	3	OR5H14	3	97868884	Missense_Mutation	SNP	A	TCGA-CS-6670-01A-11D-1893-08	56072984	97868884	100153546	14	851											
OR5K4	403278	broad.mit.edu	37	3	98073605	98073605	+	Missense_Mutation	SNP	G	G	A			TCGA-CS-6670-01A-11D-1893-08	TCGA-CS-6670-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44e94c3e-4910-440b-b21e-c0fcb9d9de16	b1a2bea4-c820-4301-ad17-0605363483bd	g.chr3:98073605G>A	ENST00000354924.2	+	1	908	c.908G>A	c.(907-909)aGg>aAg	p.R303K	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005517.1	NP_001005517.1	A6NMS3	OR5K4_HUMAN	olfactory receptor, family 5, subfamily K, member 4	303					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	21						AAAATTATGAGGAATTATAAC	0.249													60	138					0	0	0.01441	0	0	A	98073605	G	A	98073605	3	1	20	1	0	0	0	0	1	0	0	0	11216	1000	35	2	910	2	OR5K4	3	98073605	Missense_Mutation	SNP	G	TCGA-CS-6670-01A-11D-1893-08	204721	98073605	99948825	15	852											
WDR49	151790	broad.mit.edu	37	3	167246909	167246909	+	Silent	SNP	A	A	G			TCGA-CS-6670-01A-11D-1893-08	TCGA-CS-6670-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44e94c3e-4910-440b-b21e-c0fcb9d9de16	b1a2bea4-c820-4301-ad17-0605363483bd	g.chr3:167246909A>G	ENST00000308378.3	-	10	1586	c.1281T>C	c.(1279-1281)tcT>tcC	p.S427S	WDR49_ENST00000476376.1_Silent_p.S252S|WDR49_ENST00000479765.1_Intron|WDR49_ENST00000453925.2_Silent_p.S491S	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN	WD repeat domain 49	427										breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						TCTTATCAGTAGACATAATAA	0.353													11	44					0	0	0.008291	0	0	G	167246909	A	G	167246909	2	3	20	1	0	0	0	0	0	0	0	1	17362	407	15	3		3	WDR49	3	167246909	Silent	SNP	A	TCGA-CS-6670-01A-11D-1893-08	69173304	167246909	30775521	16	853											
EHHADH	1962	broad.mit.edu	37	3	184910182	184910182	+	Silent	SNP	G	G	A			TCGA-CS-6670-01A-11D-1893-08	TCGA-CS-6670-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44e94c3e-4910-440b-b21e-c0fcb9d9de16	b1a2bea4-c820-4301-ad17-0605363483bd	g.chr3:184910182G>A	ENST00000231887.3	-	7	2079	c.2004C>T	c.(2002-2004)tcC>tcT	p.S668S	EHHADH_ENST00000456310.1_Silent_p.S572S	NM_001166415.1|NM_001966.3	NP_001159887.1|NP_001957.2	Q08426	ECHP_HUMAN	enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase	668						peroxisome	3-hydroxyacyl-CoA dehydrogenase activity|coenzyme binding|dodecenoyl-CoA delta-isomerase activity|enoyl-CoA hydratase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(2)|skin(3)	24	all_cancers(143;4.04e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.98e-32)|OV - Ovarian serous cystadenocarcinoma(80;5.55e-21)		NADH(DB00157)	ACCCAACTGTGGAAGCATAGA	0.473													4	71					0	0	0.009096	0	0	A	184910182	G	A	184910182	2	1	20	1	0	0	0	0	0	0	0	1	5008	1335	47	2		2	EHHADH	3	184910182	Silent	SNP	G	TCGA-CS-6670-01A-11D-1893-08	17663273	184910182	13112248	17	854											
PTPN13	5783	broad.mit.edu	37	4	87643480	87643480	+	Silent	SNP	T	T	C			TCGA-CS-6670-01A-11D-1893-08	TCGA-CS-6670-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44e94c3e-4910-440b-b21e-c0fcb9d9de16	b1a2bea4-c820-4301-ad17-0605363483bd	g.chr4:87643480T>C	ENST00000436978.1	+	10	1981	c.1501T>C	c.(1501-1503)Ttg>Ctg	p.L501L	PTPN13_ENST00000411767.2_Silent_p.L501L|PTPN13_ENST00000316707.6_Silent_p.L501L|PTPN13_ENST00000511467.1_Silent_p.L501L|PTPN13_ENST00000427191.2_Silent_p.L501L	NM_080683.2|NM_080685.2	NP_542414.1|NP_542416.1	Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	501						cytoplasm|cytoskeleton|plasma membrane	protein binding|protein tyrosine phosphatase activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		ACAGTCTCGGTTGAGCCTATA	0.443													20	126					0	0	0.010504	0	0	C	87643480	T	C	87643480	2	2	20	1	0	0	0	0	0	0	0	1	12832	1722	60	3		3	PTPN13	4	87643480	Silent	SNP	T	TCGA-CS-6670-01A-11D-1893-08		87643480	103510796	18	855											
NPY1R	4886	broad.mit.edu	37	4	164246627	164246627	+	Missense_Mutation	SNP	T	T	C			TCGA-CS-6670-01A-11D-1893-08	TCGA-CS-6670-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44e94c3e-4910-440b-b21e-c0fcb9d9de16	b1a2bea4-c820-4301-ad17-0605363483bd	g.chr4:164246627T>C	ENST00000296533.2	-	3	1514	c.983A>G	c.(982-984)cAg>cGg	p.Q328R	NPY1R_ENST00000509586.1_Missense_Mutation_p.Q85R	NM_000909.5	NP_000900.1	P25929	NPY1R_HUMAN	neuropeptide Y receptor Y1	328					inhibition of adenylate cyclase activity by G-protein signaling pathway|outflow tract morphogenesis	integral to plasma membrane	protein binding			breast(1)|cervix(1)|large_intestine(4)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)	30	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				CAAGTCTCTCTGGAAGTTTTT	0.428													25	95					0	0	0.00333	0	0	C	164246627	T	C	164246627	3	2	20	1	0	0	0	0	1	0	0	0	10656	1580	55	3	175	3	NPY1R	4	164246627	Missense_Mutation	SNP	T	TCGA-CS-6670-01A-11D-1893-08	76603147	164246627	26907649	19	856											
KIAA0947	23379	broad.mit.edu	37	5	5466481	5466481	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CS-6670-01A-11D-1893-08	TCGA-CS-6670-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44e94c3e-4910-440b-b21e-c0fcb9d9de16	b1a2bea4-c820-4301-ad17-0605363483bd	g.chr5:5466481C>G	ENST00000296564.7	+	14	6149	c.5927C>G	c.(5926-5928)tCa>tGa	p.S1976*		NM_015325.2	NP_056140.1	Q9Y2F5	K0947_HUMAN	KIAA0947	1976										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						TCTATTCTCTCAGAACTAAAA	0.388													7	58					0	0	0.001984	0	0	G	5466481	C	G	5466481	4	3	20	1	0	0	0	0	0	1	0	0	8244	838	29	5	5981	5	KIAA0947	5	5466481	Nonsense_Mutation	SNP	C	TCGA-CS-6670-01A-11D-1893-08		5466481	175448779	20	857											
SPATA9	83890	broad.mit.edu	37	5	94994605	94994605	+	Missense_Mutation	SNP	T	T	C			TCGA-CS-6670-01A-11D-1893-08	TCGA-CS-6670-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44e94c3e-4910-440b-b21e-c0fcb9d9de16	b1a2bea4-c820-4301-ad17-0605363483bd	g.chr5:94994605T>C	ENST00000274432.8	-	5	628	c.487A>G	c.(487-489)Aat>Gat	p.N163D	SPATA9_ENST00000477047.2_5'UTR|RFESD_ENST00000508206.1_Intron	NM_031952.3	NP_114158.2	Q9BWV2	SPAT9_HUMAN	spermatogenesis associated 9	163					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				large_intestine(3)|lung(4)	7		all_cancers(142;1.28e-06)|all_epithelial(76;1.55e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473)|Colorectal(57;0.0846)|Breast(839;0.198)		all cancers(79;8.91e-16)		AGCACAGCATTAACACAGACT	0.348													21	85					0	0	0.014323	0	0	C	94994605	T	C	94994605	3	2	20	1	0	0	0	0	1	0	0	0	15072	1754	61	3	281	3	SPATA9	5	94994605	Missense_Mutation	SNP	T	TCGA-CS-6670-01A-11D-1893-08	89528124	94994605	85920655	21	858											
PCDHGA2	56113	broad.mit.edu	37	5	140720793	140720793	+	Missense_Mutation	SNP	C	C	G			TCGA-CS-6670-01A-11D-1893-08	TCGA-CS-6670-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44e94c3e-4910-440b-b21e-c0fcb9d9de16	b1a2bea4-c820-4301-ad17-0605363483bd	g.chr5:140720793C>G	ENST00000394576.2	+	1	2255	c.2255C>G	c.(2254-2256)aCc>aGc	p.T752S	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1														breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCCTGCAGACCTATTCCCAC	0.612													20	131					0	0	0.009535	0	0	G	140720793	C	G	140720793	3	3	20	1	0	0	0	0	1	0	0	0	11601	507	18	5	2257	5	PCDHGA2	5	140720793	Missense_Mutation	SNP	C	TCGA-CS-6670-01A-11D-1893-08	45726188	140720793	40194467	22	859											
FBXO38	81545	broad.mit.edu	37	5	147803622	147803622	+	Silent	SNP	T	T	C			TCGA-CS-6670-01A-11D-1893-08	TCGA-CS-6670-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44e94c3e-4910-440b-b21e-c0fcb9d9de16	b1a2bea4-c820-4301-ad17-0605363483bd	g.chr5:147803622T>C	ENST00000340253.5	+	13	1848	c.1680T>C	c.(1678-1680)aaT>aaC	p.N560N	FBXO38_ENST00000394370.3_Silent_p.N560N|FBXO38_ENST00000296701.6_Silent_p.N560N|FBXO38_ENST00000513826.1_Silent_p.N560N			Q6PIJ6	FBX38_HUMAN	F-box protein 38	560						cytoplasm|nucleus			ATG4C/FBXO38(2)	NS(1)|breast(2)|endometrium(7)|kidney(5)|large_intestine(9)|lung(15)|ovary(5)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGAGTGGAAATAATACTCCAG	0.413													6	59					0	0	0.001168	0	0	C	147803622	T	C	147803622	2	2	20	1	0	0	0	0	0	0	0	1	5779	1403	49	3		3	FBXO38	5	147803622	Silent	SNP	T	TCGA-CS-6670-01A-11D-1893-08	7082829	147803622	33111638	23	860											
IGF2R	3482	broad.mit.edu	37	6	160497010	160497010	+	Silent	SNP	T	T	C			TCGA-CS-6670-01A-11D-1893-08	TCGA-CS-6670-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44e94c3e-4910-440b-b21e-c0fcb9d9de16	b1a2bea4-c820-4301-ad17-0605363483bd	g.chr6:160497010T>C	ENST00000356956.1	+	36	5446	c.5298T>C	c.(5296-5298)tgT>tgC	p.C1766C		NM_000876.2	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	1766					receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)		CGTTTCACTGTAAGAGAGGTG	0.468													21	159					0	0	0.010504	0	0	C	160497010	T	C	160497010	2	2	20	1	0	0	0	0	0	0	0	1	7620	1644	57	3		3	IGF2R	6	160497010	Silent	SNP	T	TCGA-CS-6670-01A-11D-1893-08		160497010	10618057	24	861											
ZPBP	11055	broad.mit.edu	37	7	50023024	50023024	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-6670-01A-11D-1893-08	TCGA-CS-6670-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44e94c3e-4910-440b-b21e-c0fcb9d9de16	b1a2bea4-c820-4301-ad17-0605363483bd	g.chr7:50023024C>T	ENST00000046087.2	-	7	944	c.875G>A	c.(874-876)gGt>gAt	p.G292D	ZPBP_ENST00000419417.1_Missense_Mutation_p.G291D|ZPBP_ENST00000491129.1_5'UTR	NM_001159878.1|NM_007009.2	NP_001153350.1|NP_008940.2	Q9BS86	ZPBP1_HUMAN	zona pellucida binding protein	292					binding of sperm to zona pellucida	extracellular region				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(3)	29	Glioma(55;0.08)|all_neural(89;0.245)					TTGGAGAGTACCTTCAATATA	0.353													3	47					0	0	0.004672	0	0	T	50023024	C	T	50023024	3	4	20	1	0	0	0	0	1	0	0	0	18261	507	18	2	188	2	ZPBP	7	50023024	Missense_Mutation	SNP	C	TCGA-CS-6670-01A-11D-1893-08		50023024	109115639	25	862											
COBL	23242	broad.mit.edu	37	7	51096959	51096959	+	Missense_Mutation	SNP	G	G	A			TCGA-CS-6670-01A-11D-1893-08	TCGA-CS-6670-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44e94c3e-4910-440b-b21e-c0fcb9d9de16	b1a2bea4-c820-4301-ad17-0605363483bd	g.chr7:51096959G>A	ENST00000395542.2	-	12	2264	c.2080C>T	c.(2080-2082)Cgt>Tgt	p.R694C	COBL_ENST00000265136.7_Missense_Mutation_p.R612C			O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	612								p.R612C(1)		NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					AAGGCCACACGGATTCCTTTT	0.527													20	100					0	0	0.010504	0	0	A	51096959	G	A	51096959	3	1	20	1	0	0	0	0	1	0	0	0	3676	1116	39	1	1967	1	COBL	7	51096959	Missense_Mutation	SNP	G	TCGA-CS-6670-01A-11D-1893-08	1073935	51096959	108041704	26	863											
MAGI2	9863	broad.mit.edu	37	7	77762326	77762326	+	Missense_Mutation	SNP	G	G	A	rs148526889		TCGA-CS-6670-01A-11D-1893-08	TCGA-CS-6670-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44e94c3e-4910-440b-b21e-c0fcb9d9de16	b1a2bea4-c820-4301-ad17-0605363483bd	g.chr7:77762326G>A	ENST00000354212.4	-	18	3336	c.3083C>T	c.(3082-3084)gCg>gTg	p.A1028V	MAGI2_ENST00000419488.1_Missense_Mutation_p.A1014V|MAGI2_ENST00000522391.1_Missense_Mutation_p.A1028V	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	1028	Pro-rich.					cell junction|synapse|synaptosome	phosphatase binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				ACTCTGCTGCGCCATGGGACT	0.622													5	236					0	0	0.000602	0	0	A	77762326	G	A	77762326	3	1	20	1	0	0	0	0	1	0	0	0	9241	1087	38	1	1304	1	MAGI2	7	77762326	Missense_Mutation	SNP	G	TCGA-CS-6670-01A-11D-1893-08	26665367	77762326	81376337	27	864											
GPR85	54329	broad.mit.edu	37	7	112723671	112723671	+	Missense_Mutation	SNP	A	A	G			TCGA-CS-6670-01A-11D-1893-08	TCGA-CS-6670-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44e94c3e-4910-440b-b21e-c0fcb9d9de16	b1a2bea4-c820-4301-ad17-0605363483bd	g.chr7:112723671A>G	ENST00000297146.3	-	3	1709	c.1106T>C	c.(1105-1107)gTt>gCt	p.V369A	GPR85_ENST00000449591.1_Missense_Mutation_p.V369A|GPR85_ENST00000501255.2_Missense_Mutation_p.V369A|GPR85_ENST00000424100.1_Missense_Mutation_p.V369A	NM_001146266.1	NP_001139738.1	P60893	GPR85_HUMAN	G protein-coupled receptor 85							integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	17						CCCTCATATAACACAGTAAGG	0.423													25	167					0	0	0.00333	0	0	G	112723671	A	G	112723671	3	3	20	1	0	0	0	0	1	0	0	0	6755	43	2	3	10	3	GPR85	7	112723671	Missense_Mutation	SNP	A	TCGA-CS-6670-01A-11D-1893-08	34961345	112723671	46414992	28	865											
PTPRZ1	5803	broad.mit.edu	37	7	121659248	121659249	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CS-6670-01A-11D-1893-08	TCGA-CS-6670-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44e94c3e-4910-440b-b21e-c0fcb9d9de16	b1a2bea4-c820-4301-ad17-0605363483bd	g.chr7:121659248_121659249insA	ENST00000393386.2	+	13	5325_5326	c.4914_4915insA	c.(4915-4917)atafs	p.I1639fs	PTPRZ1_ENST00000449182.1_Frame_Shift_Ins_p.I779fs	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	1639					central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						AGAAGGCAGTTATACCCCTTGT	0.426													44	64	---	---	---	---						A	121659249	-	A	121659248	7	5	20	1	0	1	1	0	0	0	0	0	12866	1741	61	0	4964	0	PTPRZ1	7	121659248	Frame_Shift_Ins	INS	-	TCGA-CS-6670-01A-11D-1893-08	8935577	121659248	37479415	29	866											
SLC4A2	6522	broad.mit.edu	37	7	150767364	150767364	+	Missense_Mutation	SNP	G	G	T			TCGA-CS-6670-01A-11D-1893-08	TCGA-CS-6670-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44e94c3e-4910-440b-b21e-c0fcb9d9de16	b1a2bea4-c820-4301-ad17-0605363483bd	g.chr7:150767364G>T	ENST00000485713.1	+	10	2420	c.1380G>T	c.(1378-1380)gaG>gaT	p.E460D	SLC4A2_ENST00000392826.2_Missense_Mutation_p.E451D|SLC4A2_ENST00000461735.1_Missense_Mutation_p.E446D|SLC4A2_ENST00000310317.5_Missense_Mutation_p.E378D|SLC4A2_ENST00000413384.2_Missense_Mutation_p.E460D	NM_001199692.1	NP_001186621.1	P04920	B3A2_HUMAN	solute carrier family 4 (anion exchanger), member 2	460				LLGHHHGQGAESDPHVTEPLMGGVPE -> CWGITMVRGLR VTPTSPSLSWEVFLR (in Ref. 6; CAA27556).	bicarbonate transport	integral to membrane|membrane fraction	inorganic anion exchanger activity			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(14)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AGGGGGCTGAGAGTGACCCCC	0.652													10	83					9.70103e-10	1.3176e-09	0.008291	1	0	T	150767364	G	T	150767364	3	4	20	1	0	0	0	0	1	0	0	0	14709	933	33	4	1414	4	SLC4A2	7	150767364	Missense_Mutation	SNP	G	TCGA-CS-6670-01A-11D-1893-08	29108116	150767364	8371299	30	867											
DLGAP2	9228	broad.mit.edu	37	8	1626399	1626399	+	Missense_Mutation	SNP	T	T	A			TCGA-CS-6670-01A-11D-1893-08	TCGA-CS-6670-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44e94c3e-4910-440b-b21e-c0fcb9d9de16	b1a2bea4-c820-4301-ad17-0605363483bd	g.chr8:1626399T>A	ENST00000421627.2	+	9	2202	c.2068T>A	c.(2068-2070)Tct>Act	p.S690T		NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	769					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding			breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		TTTTAAACGTTCTAACAGCGT	0.552													13	82					0	0	0.003163	0	0	A	1626399	T	A	1626399	3	1	20	1	0	0	0	0	1	0	0	0	4588	1783	62	5	2098	5	DLGAP2	8	1626399	Missense_Mutation	SNP	T	TCGA-CS-6670-01A-11D-1893-08		1626399	144737623	31	868											
CTNNA3	29119	broad.mit.edu	37	10	69366623	69366623	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-6670-01A-11D-1893-08	TCGA-CS-6670-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44e94c3e-4910-440b-b21e-c0fcb9d9de16	b1a2bea4-c820-4301-ad17-0605363483bd	g.chr10:69366623C>T	ENST00000433211.2	-	3	458	c.284G>A	c.(283-285)cGc>cAc	p.R95H	CTNNA3_ENST00000373744.4_Missense_Mutation_p.R95H|CTNNA3_ENST00000545309.1_Missense_Mutation_p.R95H	NM_013266.2	NP_037398.2	Q9UI47	CTNA3_HUMAN	catenin (cadherin-associated protein), alpha 3						cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						ACTTTCTTTGCGAACTTCCTC	0.423													24	102					0	0	0.00333	0	0	T	69366623	C	T	69366623	3	4	20	1	0	0	0	0	1	0	0	0	4038	768	27	1	2467	1	CTNNA3	10	69366623	Missense_Mutation	SNP	C	TCGA-CS-6670-01A-11D-1893-08		69366623	66168124	32	869											
ATG2A	23130	broad.mit.edu	37	11	64674138	64674138	+	Splice_Site	SNP	T	T	C			TCGA-CS-6670-01A-11D-1893-08	TCGA-CS-6670-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44e94c3e-4910-440b-b21e-c0fcb9d9de16	b1a2bea4-c820-4301-ad17-0605363483bd	g.chr11:64674138T>C	ENST00000421419.2	-	20	3096	c.2982A>G	c.(2980-2982)cgA>cgG	p.R994R	ATG2A_ENST00000377264.3_Splice_Site_p.R994R			Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	994							protein binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						GCCTCACACCTCGGTGGTAGA	0.617													13	112					0	0	0.001855	0	0	C	64674138	T	C	64674138	5	2	20	1	0	0	0	0	0	0	1	0	1092	1565	54	3	2922	3	ATG2A	11	64674138	Splice_Site	SNP	T	TCGA-CS-6670-01A-11D-1893-08		64674138	70332378	33	870											
DYNC2H1	79659	broad.mit.edu	37	11	103056994	103056994	+	Silent	SNP	T	T	C			TCGA-CS-6670-01A-11D-1893-08	TCGA-CS-6670-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44e94c3e-4910-440b-b21e-c0fcb9d9de16	b1a2bea4-c820-4301-ad17-0605363483bd	g.chr11:103056994T>C	ENST00000375735.2	+	42	6801	c.6657T>C	c.(6655-6657)tcT>tcC	p.S2219S	DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Silent_p.S2219S	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	2219					cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		CACGAGAATCTCCTCCAGACT	0.378													8	34					0	0	0.006214	0	0	C	103056994	T	C	103056994	2	2	20	1	0	0	0	0	0	0	0	1	4872	1538	54	3		3	DYNC2H1	11	103056994	Silent	SNP	T	TCGA-CS-6670-01A-11D-1893-08	38382856	103056994	31949522	34	871											
SCN2B	6327	broad.mit.edu	37	11	118037639	118037639	+	Missense_Mutation	SNP	G	G	A	rs140034265		TCGA-CS-6670-01A-11D-1893-08	TCGA-CS-6670-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44e94c3e-4910-440b-b21e-c0fcb9d9de16	b1a2bea4-c820-4301-ad17-0605363483bd	g.chr11:118037639G>A	ENST00000278947.5	-	4	852	c.611C>T	c.(610-612)aCg>aTg	p.T204M		NM_004588.4	NP_004579.1	O60939	SCN2B_HUMAN	sodium channel, voltage-gated, type II, beta subunit	204					synaptic transmission	voltage-gated sodium channel complex	voltage-gated sodium channel activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)	7	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.19e-05)|Epithelial(105;0.00117)		TTCACCGTCCGTCTTGCCCTC	0.602													52	70					0	0	0.01441	0	0	A	118037639	G	A	118037639	3	1	20	1	0	0	0	0	1	0	0	0	13971	1145	40	1	40	1	SCN2B	11	118037639	Missense_Mutation	SNP	G	TCGA-CS-6670-01A-11D-1893-08	14980645	118037639	16968877	35	872											
KRT5	3852	broad.mit.edu	37	12	52913647	52913647	+	Missense_Mutation	SNP	A	A	G			TCGA-CS-6670-01A-11D-1893-08	TCGA-CS-6670-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44e94c3e-4910-440b-b21e-c0fcb9d9de16	b1a2bea4-c820-4301-ad17-0605363483bd	g.chr12:52913647A>G	ENST00000252242.4	-	1	824	c.434T>C	c.(433-435)gTc>gCc	p.V145A		NM_000424.3	NP_000415.2	P13647	K2C5_HUMAN	keratin 5	145	Head.				epidermis development|hemidesmosome assembly	cytosol|keratin filament	protein binding|structural constituent of cytoskeleton			endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2)	35				BRCA - Breast invasive adenocarcinoma(357;0.189)		ACTCTGGTTGACAGTGACCTC	0.602													20	99					0	0	0.008871	0	0	G	52913647	A	G	52913647	3	3	20	1	0	0	0	0	1	0	0	0	8522	275	10	3	1374	3	KRT5	12	52913647	Missense_Mutation	SNP	A	TCGA-CS-6670-01A-11D-1893-08		52913647	80938248	36	873											
LRRIQ1	84125	broad.mit.edu	37	12	85518209	85518209	+	Missense_Mutation	SNP	A	A	G			TCGA-CS-6670-01A-11D-1893-08	TCGA-CS-6670-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44e94c3e-4910-440b-b21e-c0fcb9d9de16	b1a2bea4-c820-4301-ad17-0605363483bd	g.chr12:85518209A>G	ENST00000393217.2	+	17	3980	c.3919A>G	c.(3919-3921)Att>Gtt	p.I1307V		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	1307										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		GGCAAGCAGTATTCCCACCAT	0.373													7	320					0	0	0.004482	0	0	G	85518209	A	G	85518209	3	3	20	1	0	0	0	0	1	0	0	0	9074	449	16	3	3981	3	LRRIQ1	12	85518209	Missense_Mutation	SNP	A	TCGA-CS-6670-01A-11D-1893-08	32604562	85518209	48333686	37	874											
LATS2	26524	broad.mit.edu	37	13	21549263	21549263	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-6670-01A-11D-1893-08	TCGA-CS-6670-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44e94c3e-4910-440b-b21e-c0fcb9d9de16	b1a2bea4-c820-4301-ad17-0605363483bd	g.chr13:21549263C>T	ENST00000382592.4	-	8	3418	c.3013G>A	c.(3013-3015)Gta>Ata	p.V1005I	LATS2_ENST00000542899.1_Missense_Mutation_p.V1005I	NM_014572.2	NP_055387.2	Q9NRM7	LATS2_HUMAN	large tumor suppressor kinase 2	1005	AGC-kinase C-terminal.				cell division|G1/S transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|intracellular protein kinase cascade|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity	microtubule organizing center|nucleus|spindle pole	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2)	45		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)		TCTTCATCTACGGGGTCGAAA	0.557													32	154					0	0	0.013726	0	0	T	21549263	C	T	21549263	3	4	20	1	0	0	0	0	1	0	0	0	8686	536	19	1	257	1	LATS2	13	21549263	Missense_Mutation	SNP	C	TCGA-CS-6670-01A-11D-1893-08		21549263	93620615	38	875											
SHC4	399694	broad.mit.edu	37	15	49148220	49148220	+	Missense_Mutation	SNP	A	A	C			TCGA-CS-6670-01A-11D-1893-08	TCGA-CS-6670-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44e94c3e-4910-440b-b21e-c0fcb9d9de16	b1a2bea4-c820-4301-ad17-0605363483bd	g.chr15:49148220A>C	ENST00000332408.4	-	8	1600	c.1172T>G	c.(1171-1173)aTg>aGg	p.M391R	SHC4_ENST00000537958.1_Missense_Mutation_p.M105R|SHC4_ENST00000396535.3_Missense_Mutation_p.M148R	NM_203349.3	NP_976224.3	Q6S5L8	SHC4_HUMAN	SHC (Src homology 2 domain containing) family, member 4	391	CH1.				intracellular signal transduction	cell junction|postsynaptic membrane				breast(1)|endometrium(2)|large_intestine(8)|lung(11)|ovary(3)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	29		all_lung(180;0.00466)		all cancers(107;9.4e-08)|GBM - Glioblastoma multiforme(94;5.94e-07)		TTTGATCCGCATATCTGAAAC	0.428													19	138					0	0	0.007413	0	0	C	49148220	A	C	49148220	3	2	20	1	0	0	0	0	1	0	0	0	14328	217	8	4	740	4	SHC4	15	49148220	Missense_Mutation	SNP	A	TCGA-CS-6670-01A-11D-1893-08		49148220	53383172	39	876											
TLE3	7090	broad.mit.edu	37	15	70366872	70366872	+	Splice_Site	SNP	C	C	T			TCGA-CS-6670-01A-11D-1893-08	TCGA-CS-6670-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44e94c3e-4910-440b-b21e-c0fcb9d9de16	b1a2bea4-c820-4301-ad17-0605363483bd	g.chr15:70366872C>T	ENST00000558939.1	-	6	1749	c.372G>A	c.(370-372)ggG>ggA	p.G124G	TLE3_ENST00000442299.2_Splice_Site_p.G124G|TLE3_ENST00000440567.3_Splice_Site_p.G117G|TLE3_ENST00000558379.1_Splice_Site_p.G124G|TLE3_ENST00000560589.1_Splice_Site_p.G68G|TLE3_ENST00000317509.8_Splice_Site_p.G124G|TLE3_ENST00000558201.1_Splice_Site_p.G130G|TLE3_ENST00000451782.2_Splice_Site_p.G124G|TLE3_ENST00000559048.1_Splice_Site_p.G130G|TLE3_ENST00000560939.1_Splice_Site_p.G130G|TLE3_ENST00000539550.1_Silent_p.G58G|TLE3_ENST00000557907.1_Splice_Site_p.G124G|TLE3_ENST00000559191.1_Intron|TLE3_ENST00000559929.1_Silent_p.G124G|TLE3_ENST00000557997.1_Splice_Site_p.G124G	NM_001282979.1|NM_001282980.1|NM_001282981.1	NP_001269908.1|NP_001269909.1|NP_001269910.1	Q04726	TLE3_HUMAN	transducin-like enhancer of split 3 (E(sp1) homolog, Drosophila)	124	Gln-rich.				organ morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						GTCCACGTACCCCGATGATGG	0.557													4	28					0	0	0.000602	0	0	T	70366872	C	T	70366872	5	4	20	1	0	0	0	0	0	0	1	0	16000	637	22	2	2006	2	TLE3	15	70366872	Splice_Site	SNP	C	TCGA-CS-6670-01A-11D-1893-08	21218652	70366872	32164520	40	877											
LDHD	197257	broad.mit.edu	37	16	75149130	75149130	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-6670-01A-11D-1893-08	TCGA-CS-6670-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44e94c3e-4910-440b-b21e-c0fcb9d9de16	b1a2bea4-c820-4301-ad17-0605363483bd	g.chr16:75149130C>T	ENST00000300051.4	-	3	339	c.293G>A	c.(292-294)gGc>gAc	p.G98D	LDHD_ENST00000450168.2_Missense_Mutation_p.G98D	NM_153486.3	NP_705690.2	Q86WU2	LDHD_HUMAN	lactate dehydrogenase D	98	FAD-binding PCMH-type.						D-lactate dehydrogenase (cytochrome) activity|flavin adenine dinucleotide binding|protein binding			endometrium(1)|large_intestine(2)|lung(12)|upper_aerodigestive_tract(1)	16						AAGCCCGGTGCCGGTGCCGAA	0.672													4	133					0	0	0.009096	0	0	T	75149130	C	T	75149130	3	4	20	1	0	0	0	0	1	0	0	0	8742	739	26	2	1266	2	LDHD	16	75149130	Missense_Mutation	SNP	C	TCGA-CS-6670-01A-11D-1893-08		75149130	15205623	41	878											
C17orf53	78995	broad.mit.edu	37	17	42231994	42231994	+	Missense_Mutation	SNP	G	G	A			TCGA-CS-6670-01A-11D-1893-08	TCGA-CS-6670-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44e94c3e-4910-440b-b21e-c0fcb9d9de16	b1a2bea4-c820-4301-ad17-0605363483bd	g.chr17:42231994G>A	ENST00000319977.4	+	6	1760	c.1523G>A	c.(1522-1524)aGc>aAc	p.S508N	C17orf53_ENST00000245382.6_Missense_Mutation_p.S432N|C17orf53_ENST00000585683.1_Missense_Mutation_p.S507N	NM_001171251.1|NM_024032.3	NP_001164722.1|NP_076937.2	Q8N3J3	CQ053_HUMAN	chromosome 17 open reading frame 53	508										NS(1)|breast(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	22		Breast(137;0.0364)|Prostate(33;0.0376)		BRCA - Breast invasive adenocarcinoma(366;0.114)		CTGACTCGGAGCACAATGGAC	0.552													12	102					0	0	0.001855	0	0	A	42231994	G	A	42231994	3	1	20	1	0	0	0	0	1	0	0	0	1871	971	34	2	1545	2	C17orf53	17	42231994	Missense_Mutation	SNP	G	TCGA-CS-6670-01A-11D-1893-08		42231994	38963216	42	879											
MATK	4145	broad.mit.edu	37	19	3783831	3783831	+	Missense_Mutation	SNP	T	T	C			TCGA-CS-6670-01A-11D-1893-08	TCGA-CS-6670-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44e94c3e-4910-440b-b21e-c0fcb9d9de16	b1a2bea4-c820-4301-ad17-0605363483bd	g.chr19:3783831T>C	ENST00000310132.6	-	6	961	c.563A>G	c.(562-564)aAc>aGc	p.N188S	MATK_ENST00000585778.1_Missense_Mutation_p.N188S|MATK_ENST00000395045.2_Missense_Mutation_p.N189S|MATK_ENST00000395040.2_Missense_Mutation_p.N147S	NM_139355.2	NP_647612.1	P42679	MATK_HUMAN	megakaryocyte-associated tyrosine kinase	188	SH2.				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)		GTCCATGAGGTTGCAGAAGAA	0.637													6	47					0	0	0.001984	0	0	C	3783831	T	C	3783831	3	2	20	1	0	0	0	0	1	0	0	0	9382	1725	60	3	996	3	MATK	19	3783831	Missense_Mutation	SNP	T	TCGA-CS-6670-01A-11D-1893-08		3783831	55345152	43	880											
ZNF799	90576	broad.mit.edu	37	19	12501372	12501372	+	Missense_Mutation	SNP	T	T	C			TCGA-CS-6670-01A-11D-1893-08	TCGA-CS-6670-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44e94c3e-4910-440b-b21e-c0fcb9d9de16	b1a2bea4-c820-4301-ad17-0605363483bd	g.chr19:12501372T>C	ENST00000419318.1	-	4	2493	c.1744A>G	c.(1744-1746)Act>Gct	p.T582A	ZNF799_ENST00000430385.3_Missense_Mutation_p.T614A|CTD-3105H18.14_ENST00000435033.1_Intron			Q96GE5	ZN799_HUMAN	zinc finger protein 799	614					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2)	19						CCAGTGTGAGTTTTTTTCCAG	0.408													4	184					0	0	0.009096	0	0	C	12501372	T	C	12501372	3	2	20	1	0	0	0	0	1	0	0	0	18215	1725	60	3	95	3	ZNF799	19	12501372	Missense_Mutation	SNP	T	TCGA-CS-6670-01A-11D-1893-08	8717541	12501372	46627611	44	881											
CIC	23152	broad.mit.edu	37	19	42791394	42791394	+	Splice_Site	SNP	T	T	G			TCGA-CS-6670-01A-11D-1893-08	TCGA-CS-6670-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44e94c3e-4910-440b-b21e-c0fcb9d9de16	b1a2bea4-c820-4301-ad17-0605363483bd	g.chr19:42791394T>G	ENST00000572681.2	+	4	3247		c.e4+2		CIC_ENST00000575354.2_Splice_Site|CIC_ENST00000160740.3_Splice_Site			Q96RK0	CIC_HUMAN	capicua transcriptional repressor						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				TGATGATGCGTGAGTTCCCTG	0.652			"Mis, F, S"		oligodendroglioma								3	14					0	0	0.009096	0	0	G	42791394	T	G	42791394	5	3	20	1	0	0	0	0	0	0	1	0	3446	1710	59	5	464	5	CIC	19	42791394	Splice_Site	SNP	T	TCGA-CS-6670-01A-11D-1893-08	30290022	42791394	16337589	45	882											
PGLYRP1	8993	broad.mit.edu	37	19	46526067	46526067	+	Silent	SNP	G	G	A			TCGA-CS-6670-01A-11D-1893-08	TCGA-CS-6670-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44e94c3e-4910-440b-b21e-c0fcb9d9de16	b1a2bea4-c820-4301-ad17-0605363483bd	g.chr19:46526067G>A	ENST00000008938.4	-	1	256	c.213C>T	c.(211-213)gcC>gcT	p.A71A		NM_005091.2	NP_005082.1	O75594	PGRP1_HUMAN	peptidoglycan recognition protein 1	71					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region	bacterial cell surface binding|N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			endometrium(2)|large_intestine(3)|lung(3)|ovary(2)	10		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.0036)|GBM - Glioblastoma multiforme(486;0.022)|Epithelial(262;0.208)		GCTGGCACGAGGCGGGGGTGT	0.652													9	22					0	0	0.004482	0	0	A	46526067	G	A	46526067	2	1	20	1	0	0	0	0	0	0	0	1	11841	987	35	2		2	PGLYRP1	19	46526067	Silent	SNP	G	TCGA-CS-6670-01A-11D-1893-08	3734673	46526067	12602916	46	883											
ATP9A	10079	broad.mit.edu	37	20	50256040	50256040	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-6670-01A-11D-1893-08	TCGA-CS-6670-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44e94c3e-4910-440b-b21e-c0fcb9d9de16	b1a2bea4-c820-4301-ad17-0605363483bd	g.chr20:50256040C>T	ENST00000338821.5	-	15	1774	c.1510G>A	c.(1510-1512)Gcc>Acc	p.A504T	ATP9A_ENST00000311637.5_Missense_Mutation_p.A368T|ATP9A_ENST00000402822.1_Missense_Mutation_p.A383T	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	504					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						TGTACCAGGGCCACCTAAACA	0.567											OREG0026043	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	44					0	0	0.008291	0	0	T	50256040	C	T	50256040	3	4	20	1	0	0	0	0	1	0	0	0	1196	739	26	2	1689	2	ATP9A	20	50256040	Missense_Mutation	SNP	C	TCGA-CS-6670-01A-11D-1893-08		50256040	12769480	47	884											
CECR2	27443	broad.mit.edu	37	22	18020229	18020229	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-6670-01A-11D-1893-08	TCGA-CS-6670-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44e94c3e-4910-440b-b21e-c0fcb9d9de16	b1a2bea4-c820-4301-ad17-0605363483bd	g.chr22:18020229C>T	ENST00000400573.5	+	14	1565	c.1558C>T	c.(1558-1560)Cgg>Tgg	p.R520W	CECR2_ENST00000400585.2_Missense_Mutation_p.R379W|CECR2_ENST00000262608.8_Missense_Mutation_p.R521W			Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2		Bromo.				chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport		protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		GGAGAAAAGACGGAGTCGGGC	0.527													6	36					0	0	0.001168	0	0	T	18020229	C	T	18020229	3	4	20	1	0	0	0	0	1	0	0	0	3228	527	19	1	1610	1	CECR2	22	18020229	Missense_Mutation	SNP	C	TCGA-CS-6670-01A-11D-1893-08		18020229	33284337	48	885											
ZBED4	9889	broad.mit.edu	37	22	50280050	50280050	+	Missense_Mutation	SNP	G	G	A	rs55681922		TCGA-CS-6670-01A-11D-1893-08	TCGA-CS-6670-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44e94c3e-4910-440b-b21e-c0fcb9d9de16	b1a2bea4-c820-4301-ad17-0605363483bd	g.chr22:50280050G>A	ENST00000216268.5	+	2	3217	c.2740G>A	c.(2740-2742)Gtc>Atc	p.V914I		NM_014838.2	NP_055653.2	O75132	ZBED4_HUMAN	zinc finger, BED-type containing 4							cytoplasm|nucleus	DNA binding|metal ion binding|protein dimerization activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		CGAGATGTCCGTCGAGTGTAA	0.582													13	62					0	0	0.00245	0	0	A	50280050	G	A	50280050	3	1	20	1	0	0	0	0	1	0	0	0	17579	1145	40	1	2742	1	ZBED4	22	50280050	Missense_Mutation	SNP	G	TCGA-CS-6670-01A-11D-1893-08	32259821	50280050	1024516	49	886											
CUL4B	8450	broad.mit.edu	37	X	119691896	119691896	+	Splice_Site	SNP	T	T	C			TCGA-CS-6670-01A-11D-1893-08	TCGA-CS-6670-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44e94c3e-4910-440b-b21e-c0fcb9d9de16	b1a2bea4-c820-4301-ad17-0605363483bd	g.chrX:119691896T>C	ENST00000371322.5	-	2	618		c.e2-2		CUL4B_ENST00000404115.3_Splice_Site|CUL4B_ENST00000336592.6_Splice_Site	NM_001079872.1	NP_001073341.1	Q13620	CUL4B_HUMAN	cullin 4B						cell cycle|DNA repair|ubiquitin-dependent protein catabolic process	Cul4B-RING ubiquitin ligase complex|nucleus	protein binding|ubiquitin protein ligase binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						TAGGCTTATCTAGATGATATG	0.313													11	14					0	0	0.013537	0	0	C	119691896	T	C	119691896	5	2	20	1	0	0	0	0	0	0	1	0	4081	1536	53	3	2208	3	CUL4B	23	119691896	Splice_Site	SNP	T	TCGA-CS-6670-01A-11D-1893-08		119691896	35578664	50	887											
EIF4G3	8672	broad.mit.edu	37	1	21155713	21155713	+	Missense_Mutation	SNP	T	T	C			TCGA-DB-5270-01A-02D-1468-08	TCGA-DB-5270-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27da0280-b7dc-43ba-a50a-2e9a2c6b1bcf	a52afc7f-a694-44cb-8235-ef78e8c30fa2	g.chr1:21155713T>C	ENST00000602326.1	-	29	4547	c.3964A>G	c.(3964-3966)Att>Gtt	p.I1322V	EIF4G3_ENST00000536266.1_Missense_Mutation_p.I920V|EIF4G3_ENST00000374937.3_Missense_Mutation_p.I1322V|EIF4G3_ENST00000400422.1_Missense_Mutation_p.I1316V|EIF4G3_ENST00000264211.8_Missense_Mutation_p.I1316V|EIF4G3_ENST00000374935.3_Missense_Mutation_p.I1036V|EIF4G3_ENST00000537738.1_Missense_Mutation_p.I806V	NM_001198802.1	NP_001185731.1	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	1316	MI.				interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|RNA cap binding|translation initiation factor activity			endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		TACAACCAAATATGGGGAATA	0.378													38	101					0	0	0.812448	0	0	C	21155713	T	C	21155713	3	2	21	1	0	0	0	0	1	0	0	0	5066	1406	49	3	839	3	EIF4G3	1	21155713	Missense_Mutation	SNP	T	TCGA-DB-5270-01A-02D-1468-08		21155713	228094908	1	888											
GRHL3	57822	broad.mit.edu	37	1	24663012	24663012	+	Missense_Mutation	SNP	C	C	A			TCGA-DB-5270-01A-02D-1468-08	TCGA-DB-5270-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27da0280-b7dc-43ba-a50a-2e9a2c6b1bcf	a52afc7f-a694-44cb-8235-ef78e8c30fa2	g.chr1:24663012C>A	ENST00000361548.4	+	4	537	c.307C>A	c.(307-309)Ctt>Att	p.L103I	GRHL3_ENST00000342072.4_Missense_Mutation_p.L10I|GRHL3_ENST00000236255.4_Missense_Mutation_p.L108I|GRHL3_ENST00000530984.1_3'UTR|GRHL3_ENST00000356046.2_Missense_Mutation_p.L57I|GRHL3_ENST00000350501.5_Missense_Mutation_p.L103I	NM_198173.2	NP_937816.1	Q8TE85	GRHL3_HUMAN	grainyhead-like 3 (Drosophila)	103					regulation of actin cytoskeleton organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143)		CCTCACTCCCCTTGAAAGCCC	0.507													8	130					0.00307968	0.00349964	0.27861	1	0	A	24663012	C	A	24663012	3	1	21	1	0	0	0	0	1	0	0	0	6806	681	24	4	357	4	GRHL3	1	24663012	Missense_Mutation	SNP	C	TCGA-DB-5270-01A-02D-1468-08	3507299	24663012	224587609	2	889											
DOCK7	85440	broad.mit.edu	37	1	63090967	63090967	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-5270-01A-02D-1468-08	TCGA-DB-5270-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27da0280-b7dc-43ba-a50a-2e9a2c6b1bcf	a52afc7f-a694-44cb-8235-ef78e8c30fa2	g.chr1:63090967C>T	ENST00000251157.5	-	12	1421	c.1388G>A	c.(1387-1389)cGa>cAa	p.R463Q	DOCK7_ENST00000404627.2_Missense_Mutation_p.R463Q|DOCK7_ENST00000340370.5_Missense_Mutation_p.R463Q	NM_001271999.1	NP_001258928.1	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	463					activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						AGTAGCTGGTCGAAAGCTCGT	0.388													5	218					0	0	0.184627	0	0	T	63090967	C	T	63090967	3	4	21	1	0	0	0	0	1	0	0	0	4719	884	31	1	5093	1	DOCK7	1	63090967	Missense_Mutation	SNP	C	TCGA-DB-5270-01A-02D-1468-08	38427955	63090967	186159654	3	890											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-DB-5270-01A-02D-1468-08	TCGA-DB-5270-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27da0280-b7dc-43ba-a50a-2e9a2c6b1bcf	a52afc7f-a694-44cb-8235-ef78e8c30fa2	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	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								30	67					0	0	0.740014	0	0	T	209113112	C	T	209113112	3	4	21	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-DB-5270-01A-02D-1468-08		209113112	34086261	4	891											
LEF1	51176	broad.mit.edu	37	4	109000758	109000758	+	Silent	SNP	A	A	G			TCGA-DB-5270-01A-02D-1468-08	TCGA-DB-5270-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27da0280-b7dc-43ba-a50a-2e9a2c6b1bcf	a52afc7f-a694-44cb-8235-ef78e8c30fa2	g.chr4:109000758A>G	ENST00000379951.2	-	6	1839	c.651T>C	c.(649-651)caT>caC	p.H217H	LEF1_ENST00000438313.2_Silent_p.H217H|LEF1_ENST00000265165.1_Silent_p.H245H|LEF1_ENST00000510624.1_Silent_p.H149H	NM_001130713.2|NM_001130714.2	NP_001124185.1|NP_001124186.1	Q9UJU2	LEF1_HUMAN	lymphoid enhancer-binding factor 1	245	Pro-rich.				canonical Wnt receptor signaling pathway|cell chemotaxis|cellular response to interleukin-4|epithelial to mesenchymal transition|histone H3 acetylation|histone H4 acetylation|negative regulation of apoptosis in bone marrow|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell-cell adhesion|negative regulation of DNA binding|negative regulation of estrogen receptor binding|negative regulation of interleukin-13 production|negative regulation of interleukin-4 production|negative regulation of interleukin-5 production|negative regulation of transcription, DNA-dependent|neutrophil differentiation|osteoblast differentiation|palate development|positive regulation by host of viral transcription|positive regulation of cell cycle process|positive regulation of cell growth|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of cell proliferation in bone marrow|positive regulation of cell-cell adhesion|positive regulation of epithelial to mesenchymal transition|positive regulation of granulocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|T-helper 1 cell differentiation	cytoplasm|protein-DNA complex|transcription factor complex	armadillo repeat domain binding|beta-catenin binding|C2H2 zinc finger domain binding|caspase inhibitor activity|DNA bending activity|enhancer binding|estrogen receptor activity|estrogen receptor binding|gamma-catenin binding|histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1)	25				OV - Ovarian serous cystadenocarcinoma(123;0.000224)		CGGGAATCATATGATGGGAAA	0.468													28	67					0	0	0.769981	0	0	G	109000758	A	G	109000758	2	3	21	1	0	0	0	0	0	0	0	1	8753	446	16	3		3	LEF1	4	109000758	Silent	SNP	A	TCGA-DB-5270-01A-02D-1468-08		109000758	82153518	5	892											
RASA1	5921	broad.mit.edu	37	5	86659176	86659176	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-5270-01A-02D-1468-08	TCGA-DB-5270-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27da0280-b7dc-43ba-a50a-2e9a2c6b1bcf	a52afc7f-a694-44cb-8235-ef78e8c30fa2	g.chr5:86659176C>T	ENST00000456692.2	+	11	1049	c.934C>T	c.(934-936)Cgt>Tgt	p.R312C	RASA1_ENST00000506290.1_Missense_Mutation_p.R323C|RASA1_ENST00000512763.1_Missense_Mutation_p.R322C|RASA1_ENST00000274376.6_Missense_Mutation_p.R489C	NM_022650.2	NP_072179.1	P20936	RASA1_HUMAN	RAS p21 protein activator (GTPase activating protein) 1	489	SH3.				cytokinesis|embryo development|intracellular signal transduction|negative regulation of cell-matrix adhesion|negative regulation of neuron apoptosis|negative regulation of Ras protein signal transduction|positive regulation of anti-apoptosis|regulation of actin filament polymerization|regulation of cell shape|regulation of RNA metabolic process|vasculogenesis	cytosol|intrinsic to internal side of plasma membrane	glycoprotein binding|GTPase binding|potassium channel inhibitor activity|Ras GTPase activator activity|receptor binding			NS(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(12)|lung(13)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	48		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)		CAAAGGAAAACGTTGGAAAAA	0.274													16	75					0	0	0.520397	0	0	T	86659176	C	T	86659176	3	4	21	1	0	0	0	0	1	0	0	0	13112	536	19	1	1519	1	RASA1	5	86659176	Missense_Mutation	SNP	C	TCGA-DB-5270-01A-02D-1468-08		86659176	94256084	6	893											
ZBTB12	221527	broad.mit.edu	37	6	31868387	31868387	+	Silent	SNP	A	A	G			TCGA-DB-5270-01A-02D-1468-08	TCGA-DB-5270-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27da0280-b7dc-43ba-a50a-2e9a2c6b1bcf	a52afc7f-a694-44cb-8235-ef78e8c30fa2	g.chr6:31868387A>G	ENST00000375527.2	-	2	871	c.696T>C	c.(694-696)ggT>ggC	p.G232G	C2_ENST00000469372.1_Intron	NM_181842.2	NP_862825.1	Q9Y330	ZBT12_HUMAN	zinc finger and BTB domain containing 12	232	Gly-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|lung(5)|prostate(1)|skin(1)	10						CAATGCCCAGACCCCCTCCCA	0.662													3	89					0	0	0.115264	0	0	G	31868387	A	G	31868387	2	3	21	1	0	0	0	0	0	0	0	1	17584	262	10	3		3	ZBTB12	6	31868387	Silent	SNP	A	TCGA-DB-5270-01A-02D-1468-08		31868387	139246680	7	894											
NOTCH4	4855	broad.mit.edu	37	6	32178697	32178697	+	Silent	SNP	G	G	T			TCGA-DB-5270-01A-02D-1468-08	TCGA-DB-5270-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27da0280-b7dc-43ba-a50a-2e9a2c6b1bcf	a52afc7f-a694-44cb-8235-ef78e8c30fa2	g.chr6:32178697G>T	ENST00000375023.3	-	18	2835	c.2697C>A	c.(2695-2697)tcC>tcA	p.S899S		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	899	EGF-like 23.				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						TGTGGCAAAGGGAAGAGACGT	0.582													3	41					0.115264	0.128071	0.115264	1	0	T	32178697	G	T	32178697	2	4	21	1	0	0	0	0	0	0	0	1	10598	1219	43	5		5	NOTCH4	6	32178697	Silent	SNP	G	TCGA-DB-5270-01A-02D-1468-08	310310	32178697	138936370	8	895											
FOXK1	221937	broad.mit.edu	37	7	4800775	4800776	+	Frame_Shift_Ins	INS	-	-	C			TCGA-DB-5270-01A-02D-1468-08	TCGA-DB-5270-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27da0280-b7dc-43ba-a50a-2e9a2c6b1bcf	a52afc7f-a694-44cb-8235-ef78e8c30fa2	g.chr7:4800775_4800776insC	ENST00000328914.4	+	8	1777_1778	c.1777_1778insC	c.(1777-1779)gccfs	p.A593fs	FOXK1_ENST00000446823.1_Frame_Shift_Ins_p.A430fs	NM_001037165.1	NP_001032242.1	P85037	FOXK1_HUMAN	forkhead box K1	593					cell differentiation|embryo development|muscle organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|magnesium ion binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;7.43e-15)		CAGCCAGATGGCCCCCGGGGTC	0.673													8	150	---	---	---	---						C	4800776	-	C	4800775	7	5	21	1	0	1	1	0	0	0	0	0	6048	1203	42	0	1807	0	FOXK1	7	4800775	Frame_Shift_Ins	INS	-	TCGA-DB-5270-01A-02D-1468-08		4800775	154337888	9	896											
TFR2	7036	broad.mit.edu	37	7	100229562	100229562	+	Silent	SNP	G	G	A			TCGA-DB-5270-01A-02D-1468-08	TCGA-DB-5270-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27da0280-b7dc-43ba-a50a-2e9a2c6b1bcf	a52afc7f-a694-44cb-8235-ef78e8c30fa2	g.chr7:100229562G>A	ENST00000462107.1	-	9	1260	c.973C>T	c.(973-975)Ctg>Ttg	p.L325L	TFR2_ENST00000544242.1_5'UTR|TFR2_ENST00000223051.3_Silent_p.L325L|TFR2_ENST00000431692.1_Intron			Q9UP52	TFR2_HUMAN	transferrin receptor 2	325					cellular iron ion homeostasis|iron ion transport|proteolysis	cytoplasm|integral to plasma membrane	peptidase activity|transferrin receptor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					CCAGTTCCCAGGTGCACCTGC	0.577													3	104					0	0	0.115264	0	0	A	100229562	G	A	100229562	2	1	21	1	0	0	0	0	0	0	0	1	15871	991	35	2		2	TFR2	7	100229562	Silent	SNP	G	TCGA-DB-5270-01A-02D-1468-08	95428787	100229562	58909101	10	897											
AQP7	364	broad.mit.edu	37	9	33395107	33395107	+	Missense_Mutation	SNP	A	A	G			TCGA-DB-5270-01A-02D-1468-08	TCGA-DB-5270-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27da0280-b7dc-43ba-a50a-2e9a2c6b1bcf	a52afc7f-a694-44cb-8235-ef78e8c30fa2	g.chr9:33395107A>G	ENST00000539936.1	-	3	351	c.113T>C	c.(112-114)cTg>cCg	p.L38P	AQP7_ENST00000377425.4_Intron|AQP7_ENST00000541274.1_5'UTR|AQP7_ENST00000537089.1_5'UTR			O14520	AQP7_HUMAN	aquaporin 7	38			L -> V (in dbSNP:rs2381003).		excretion|generation of precursor metabolites and energy	cell-cell junction|cytoplasm|integral to plasma membrane	glycerol channel activity|water channel activity			NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)		GAACTCGGCCAGGAACTCTCG	0.587													10	62					0	0	0.335167	0	0	G	33395107	A	G	33395107	3	3	21	1	0	0	0	0	1	0	0	0	828	188	7	3	939	3	AQP7	9	33395107	Missense_Mutation	SNP	A	TCGA-DB-5270-01A-02D-1468-08		33395107	107818324	11	898											
TRPM6	140803	broad.mit.edu	37	9	77457155	77457155	+	Missense_Mutation	SNP	T	T	C			TCGA-DB-5270-01A-02D-1468-08	TCGA-DB-5270-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27da0280-b7dc-43ba-a50a-2e9a2c6b1bcf	a52afc7f-a694-44cb-8235-ef78e8c30fa2	g.chr9:77457155T>C	ENST00000451710.3	-	4	494	c.257A>G	c.(256-258)cAc>cGc	p.H86R	TRPM6_ENST00000361255.3_Missense_Mutation_p.H81R|TRPM6_ENST00000449912.2_Missense_Mutation_p.H81R|TRPM6_ENST00000376871.3_Missense_Mutation_p.H86R|TRPM6_ENST00000376864.4_Missense_Mutation_p.H86R|TRPM6_ENST00000359047.2_Missense_Mutation_p.H86R|TRPM6_ENST00000360774.1_Missense_Mutation_p.H86R|TRPM6_ENST00000376872.3_Missense_Mutation_p.H86R			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	86					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						TTTCGTTGTGTGCTTTTCAAC	0.443													6	158					0	0	0.248553	0	0	C	77457155	T	C	77457155	3	2	21	1	0	0	0	0	1	0	0	0	16651	1696	59	3	5955	3	TRPM6	9	77457155	Missense_Mutation	SNP	T	TCGA-DB-5270-01A-02D-1468-08	44062048	77457155	63756276	12	899											
HPS1	3257	broad.mit.edu	37	10	100195403	100195403	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-5270-01A-02D-1468-08	TCGA-DB-5270-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27da0280-b7dc-43ba-a50a-2e9a2c6b1bcf	a52afc7f-a694-44cb-8235-ef78e8c30fa2	g.chr10:100195403C>T	ENST00000325103.6	-	4	477	c.244G>A	c.(244-246)Gtc>Atc	p.V82I	HPS1_ENST00000338546.5_Missense_Mutation_p.V82I|HPS1_ENST00000361490.4_Missense_Mutation_p.V82I|HPS1_ENST00000467246.1_5'UTR	NM_000195.3	NP_000186.2	Q92902	HPS1_HUMAN	Hermansky-Pudlak syndrome 1	82					lysosome organization|response to stimulus|visual perception	cytoplasmic membrane-bounded vesicle|integral to plasma membrane|lysosome|membrane fraction|soluble fraction	protein dimerization activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23		Colorectal(252;0.234)		Epithelial(162;3.87e-12)|all cancers(201;5.63e-10)		AGGTGAAGGACATACAGGAAG	0.537									Hermansky-Pudlak syndrome				6	182					0	0	0.217242	0	0	T	100195403	C	T	100195403	3	4	21	1	0	0	0	0	1	0	0	0	7380	478	17	2	1964	2	HPS1	10	100195403	Missense_Mutation	SNP	C	TCGA-DB-5270-01A-02D-1468-08		100195403	35339344	13	900											
SBF2	81846	broad.mit.edu	37	11	9875143	9875143	+	Missense_Mutation	SNP	C	C	A			TCGA-DB-5270-01A-02D-1468-08	TCGA-DB-5270-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27da0280-b7dc-43ba-a50a-2e9a2c6b1bcf	a52afc7f-a694-44cb-8235-ef78e8c30fa2	g.chr11:9875143C>A	ENST00000256190.8	-	20	2617	c.2480G>T	c.(2479-2481)tGt>tTt	p.C827F	RP11-1H15.2_ENST00000533659.1_RNA	NM_030962.3	NP_112224.1	Q86WG5	MTMRD_HUMAN	SET binding factor 2	827					myelination	cytoplasm|membrane	phosphatase activity|protein binding			breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		ACTCTCTGTACAAACTTTGTC	0.398													4	190					0.150653	0.163754	0.150653	1	0	A	9875143	C	A	9875143	3	1	21	1	0	0	0	0	1	0	0	0	13912	478	17	5	3153	5	SBF2	11	9875143	Missense_Mutation	SNP	C	TCGA-DB-5270-01A-02D-1468-08		9875143	125131373	14	901											
OR5J2	282775	broad.mit.edu	37	11	55944144	55944144	+	Missense_Mutation	SNP	G	G	C			TCGA-DB-5270-01A-02D-1468-08	TCGA-DB-5270-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27da0280-b7dc-43ba-a50a-2e9a2c6b1bcf	a52afc7f-a694-44cb-8235-ef78e8c30fa2	g.chr11:55944144G>C	ENST00000312298.1	+	1	51	c.51G>C	c.(49-51)ttG>ttC	p.L17F		NM_001005492.1	NP_001005492.1	Q8NH18	OR5J2_HUMAN	olfactory receptor, family 5, subfamily J, member 2	17					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	44	Esophageal squamous(21;0.00693)					TTTTGGGATTGACAGATCATG	0.358													39	148					0	0	0.840704	0	0	C	55944144	G	C	55944144	3	2	21	1	0	0	0	0	1	0	0	0	11212	1281	45	5	53	5	OR5J2	11	55944144	Missense_Mutation	SNP	G	TCGA-DB-5270-01A-02D-1468-08	46069001	55944144	79062372	15	902											
MMP12	4321	broad.mit.edu	37	11	102743820	102743820	+	RNA	SNP	C	C	T			TCGA-DB-5270-01A-02D-1468-08	TCGA-DB-5270-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27da0280-b7dc-43ba-a50a-2e9a2c6b1bcf	a52afc7f-a694-44cb-8235-ef78e8c30fa2	g.chr11:102743820C>T	ENST00000532855.1	-	0	221							P39900	MMP12_HUMAN	matrix metallopeptidase 12 (macrophage elastase)						positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.014)	Acetohydroxamic Acid(DB00551)	TATCTCAAGGCCATAAAATTT	0.333													8	28					0	0	0.335167	0	0	T	102743820	C	T	102743820	1	4	21	0	1	0	0	0	0	0	0	0	9699	739	26	2		2	MMP12	11	102743820	RNA	SNP	C	TCGA-DB-5270-01A-02D-1468-08	46799676	102743820	32262696	16	903											
PIK3C2G	5288	broad.mit.edu	37	12	18573895	18573895	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-5270-01A-02D-1468-08	TCGA-DB-5270-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27da0280-b7dc-43ba-a50a-2e9a2c6b1bcf	a52afc7f-a694-44cb-8235-ef78e8c30fa2	g.chr12:18573895G>A	ENST00000433979.1	+	16	2329	c.2213G>A	c.(2212-2214)cGt>cAt	p.R738H	PIK3C2G_ENST00000266497.5_Missense_Mutation_p.R738H|PIK3C2G_ENST00000538779.1_Missense_Mutation_p.R779H	NM_004570.4	NP_004561.3	O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	738					cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				CAAGAAATTCGTAAAGTGGCA	0.363													5	105					0	0	0.217242	0	0	A	18573895	G	A	18573895	3	1	21	1	0	0	0	0	1	0	0	0	11959	1145	40	1	2271	1	PIK3C2G	12	18573895	Missense_Mutation	SNP	G	TCGA-DB-5270-01A-02D-1468-08		18573895	115278000	17	904											
CAPRIN2	65981	broad.mit.edu	37	12	30863150	30863150	+	Missense_Mutation	SNP	T	T	G			TCGA-DB-5270-01A-02D-1468-08	TCGA-DB-5270-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27da0280-b7dc-43ba-a50a-2e9a2c6b1bcf	a52afc7f-a694-44cb-8235-ef78e8c30fa2	g.chr12:30863150T>G	ENST00000251071.5	-	18	3820	c.3070A>C	c.(3070-3072)Aac>Cac	p.N1024H	CAPRIN2_ENST00000395805.2_3'UTR|CAPRIN2_ENST00000298892.5_Missense_Mutation_p.N974H|CAPRIN2_ENST00000308433.5_Missense_Mutation_p.N690H	NM_001002259.1|NM_032156.3	NP_001002259.1|NP_115532.3	Q6IMN6	CAPR2_HUMAN	caprin family member 2	1024	C1q.				negative regulation of cell growth|negative regulation of translation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of transcription from RNA polymerase II promoter	mitochondrion|receptor complex	receptor binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	48	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					CCTAAGTTGTTCAGAAGAAGA	0.443													36	108					0	0	0.788014	0	0	G	30863150	T	G	30863150	3	3	21	1	0	0	0	0	1	0	0	0	2654	1783	62	5	317	5	CAPRIN2	12	30863150	Missense_Mutation	SNP	T	TCGA-DB-5270-01A-02D-1468-08	12289255	30863150	102988745	18	905											
LETMD1	25875	broad.mit.edu	37	12	51449667	51449667	+	Missense_Mutation	SNP	C	C	G			TCGA-DB-5270-01A-02D-1468-08	TCGA-DB-5270-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27da0280-b7dc-43ba-a50a-2e9a2c6b1bcf	a52afc7f-a694-44cb-8235-ef78e8c30fa2	g.chr12:51449667C>G	ENST00000418425.2	+	5	581	c.562C>G	c.(562-564)Caa>Gaa	p.Q188E	LETMD1_ENST00000552739.1_Missense_Mutation_p.Q58E|LETMD1_ENST00000550929.1_Missense_Mutation_p.Q119E|LETMD1_ENST00000547008.1_Intron|LETMD1_ENST00000548516.1_Intron|LETMD1_ENST00000380123.2_3'UTR|LETMD1_ENST00000262055.4_Missense_Mutation_p.Q175E	NM_001243689.1	NP_001230618.1	Q6P1Q0	LTMD1_HUMAN	LETM1 domain containing 1	175	LETM1.					integral to membrane|mitochondrial outer membrane	protein binding			central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(3)	16						GACCCCAAAACAACAAACTGA	0.413													3	163					0	0	0.115264	0	0	G	51449667	C	G	51449667	3	3	21	1	0	0	0	0	1	0	0	0	8775	479	17	5	541	5	LETMD1	12	51449667	Missense_Mutation	SNP	C	TCGA-DB-5270-01A-02D-1468-08	20586517	51449667	82402228	19	906											
ACVR1B	91	broad.mit.edu	37	12	52370109	52370109	+	Splice_Site	SNP	A	A	T			TCGA-DB-5270-01A-02D-1468-08	TCGA-DB-5270-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27da0280-b7dc-43ba-a50a-2e9a2c6b1bcf	a52afc7f-a694-44cb-8235-ef78e8c30fa2	g.chr12:52370109A>T	ENST00000257963.4	+	3	408		c.e3-1		ACVR1B_ENST00000542485.1_Splice_Site|ACVR1B_ENST00000415850.2_Splice_Site|ACVR1B_ENST00000541224.1_Splice_Site|ACVR1B_ENST00000426655.2_Splice_Site	NM_004302.4|NM_020328.3	NP_004293.1|NP_064733.3	P36896	ACV1B_HUMAN	activin A receptor, type IB						G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|peptidyl-threonine phosphorylation|positive regulation of activin receptor signaling pathway|positive regulation of erythrocyte differentiation|protein autophosphorylation|transmembrane receptor protein serine/threonine kinase signaling pathway	cell surface	activin receptor activity, type I|ATP binding|metal ion binding|SMAD binding|transforming growth factor beta receptor activity|ubiquitin protein ligase binding			breast(5)|endometrium(4)|kidney(5)|large_intestine(12)|lung(10)|ovary(1)|pancreas(6)|prostate(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.104)	Adenosine triphosphate(DB00171)	CACTTGACTCAGGTCACCTCA	0.532													4	92					0	0	0.150653	0	0	T	52370109	A	T	52370109	5	4	21	1	0	0	0	0	0	0	1	0	220	202	7	5	340	5	ACVR1B	12	52370109	Splice_Site	SNP	A	TCGA-DB-5270-01A-02D-1468-08	920442	52370109	81481786	20	907											
TBC1D15	64786	broad.mit.edu	37	12	72315226	72315226	+	Nonsense_Mutation	SNP	A	A	T			TCGA-DB-5270-01A-02D-1468-08	TCGA-DB-5270-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27da0280-b7dc-43ba-a50a-2e9a2c6b1bcf	a52afc7f-a694-44cb-8235-ef78e8c30fa2	g.chr12:72315226A>T	ENST00000550746.1	+	17	1910	c.1846A>T	c.(1846-1848)Aaa>Taa	p.K616*	TBC1D15_ENST00000319106.8_Nonsense_Mutation_p.K607*|TBC1D15_ENST00000393309.3_Nonsense_Mutation_p.K370*|TBC1D15_ENST00000485960.2_Nonsense_Mutation_p.K599*	NM_001146213.1|NM_022771.4	NP_001139685.2|NP_073608.4	Q8TC07	TBC15_HUMAN	TBC1 domain family, member 15	616							protein binding|Rab GTPase activator activity			NS(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						ACAGATGGTAAAATGCAAGGT	0.313													25	124					0	0	0.717897	0	0	T	72315226	A	T	72315226	4	4	21	1	0	0	0	0	0	1	0	0	15661	15	1	5	2036	5	TBC1D15	12	72315226	Nonsense_Mutation	SNP	A	TCGA-DB-5270-01A-02D-1468-08	19945117	72315226	61536669	21	908											
TCF12	6938	broad.mit.edu	37	15	57524958	57524962	+	Frame_Shift_Del	DEL	CCACC	CCACC	-			TCGA-DB-5270-01A-02D-1468-08	TCGA-DB-5270-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27da0280-b7dc-43ba-a50a-2e9a2c6b1bcf	a52afc7f-a694-44cb-8235-ef78e8c30fa2	g.chr15:57524958_57524962delCCACC	ENST00000267811.5	+	11	1178_1182	c.874_878delCCACC	c.(874-879)ccaccafs	p.PP292fs	TCF12_ENST00000452095.2_Frame_Shift_Del_p.PP288fs|TCF12_ENST00000537840.1_Frame_Shift_Del_p.PP56fs|TCF12_ENST00000560764.1_3'UTR|TCF12_ENST00000343827.3_Frame_Shift_Del_p.PP122fs|TCF12_ENST00000557843.1_Frame_Shift_Del_p.PP292fs|TCF12_ENST00000333725.5_Frame_Shift_Del_p.PP292fs|TCF12_ENST00000543579.1_Frame_Shift_Del_p.PP122fs|TCF12_ENST00000438423.2_Frame_Shift_Del_p.PP292fs	NM_003205.3|NM_207038.1	NP_003196.1|NP_996921.1	Q99081	HTF4_HUMAN	transcription factor 12	292					immune response|muscle organ development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity		TCF12/NR4A3(2)	breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	36		Colorectal(260;0.0907)		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)		CACGAGTCTTCCACCAATGTCCAGC	0.424			T	TEC	extraskeletal myxoid chondrosarcoma								14	91	---	---	---	---						-	57524962	CCACC	-	57524958	7	5	21	1	0	1	0	1	0	0	0	0	15747	855	30	0	985	0	TCF12	15	57524958	Frame_Shift_Del	DEL	CCACC	TCGA-DB-5270-01A-02D-1468-08		57524958	45006434	22	909											
NEO1	4756	broad.mit.edu	37	15	73581488	73581488	+	Splice_Site	SNP	G	G	A	rs150727403		TCGA-DB-5270-01A-02D-1468-08	TCGA-DB-5270-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27da0280-b7dc-43ba-a50a-2e9a2c6b1bcf	a52afc7f-a694-44cb-8235-ef78e8c30fa2	g.chr15:73581488G>A	ENST00000339362.5	+	26	4098	c.3651G>A	c.(3649-3651)ggG>ggA	p.G1217G	NEO1_ENST00000558964.1_Splice_Site_p.G1206G|NEO1_ENST00000560262.1_Splice_Site_p.G1217G|NEO1_ENST00000261908.6_Splice_Site_p.G1217G			Q92859	NEO1_HUMAN	neogenin 1	1217					axon guidance|cell adhesion|positive regulation of muscle cell differentiation	Golgi apparatus|integral to plasma membrane|nucleus				NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	57						AACATCTAGGGCATGAGTCAG	0.488													10	29					0	0	0.411799	0	0	A	73581488	G	A	73581488	5	1	21	1	0	0	0	0	0	0	1	0	10383	1217	42	2	3749	2	NEO1	15	73581488	Splice_Site	SNP	G	TCGA-DB-5270-01A-02D-1468-08	16056530	73581488	28949904	23	910											
HYDIN	54768	broad.mit.edu	37	16	71098695	71098695	+	Silent	SNP	C	C	G			TCGA-DB-5270-01A-02D-1468-08	TCGA-DB-5270-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27da0280-b7dc-43ba-a50a-2e9a2c6b1bcf	a52afc7f-a694-44cb-8235-ef78e8c30fa2	g.chr16:71098695C>G	ENST00000393567.2	-	16	2274	c.2124G>C	c.(2122-2124)ggG>ggC	p.G708G	HYDIN_ENST00000321489.5_Silent_p.G708G|HYDIN_ENST00000448089.2_Silent_p.G708G|HYDIN_ENST00000541601.1_Silent_p.G725G|HYDIN_ENST00000538248.1_Silent_p.G735G|HYDIN_ENST00000448691.1_Silent_p.G708G	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	708										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				GGAAGCAGTGCCCAAAGTCCA	0.502													12	39					0	0	0.500413	0	0	G	71098695	C	G	71098695	2	3	21	1	0	0	0	0	0	0	0	1	7511	726	26	5		5	HYDIN	16	71098695	Silent	SNP	C	TCGA-DB-5270-01A-02D-1468-08		71098695	19256058	24	911											
TP53	7157	broad.mit.edu	37	17	7577580	7577580	+	Missense_Mutation	SNP	T	T	C			TCGA-DB-5270-01A-02D-1468-08	TCGA-DB-5270-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27da0280-b7dc-43ba-a50a-2e9a2c6b1bcf	a52afc7f-a694-44cb-8235-ef78e8c30fa2	g.chr17:7577580T>C	ENST00000420246.2	-	7	833	c.701A>G	c.(700-702)tAc>tGc	p.Y234C	TP53_ENST00000359597.4_Missense_Mutation_p.Y234C|TP53_ENST00000269305.4_Missense_Mutation_p.Y234C|TP53_ENST00000413465.2_Missense_Mutation_p.Y234C|TP53_ENST00000455263.2_Missense_Mutation_p.Y234C|TP53_ENST00000445888.2_Missense_Mutation_p.Y234C|TP53_ENST00000574684.1_5'UTR	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	234	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 -> K (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|Y -> N (in sporadic cancers; somatic mutation).|Y -> Q (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|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.Y234C(94)|p.Y234S(9)|p.Y141C(8)|p.0?(8)|p.?(5)|p.Y234del(3)|p.Y141S(2)|p.I232_Y236delIHYNY(1)|p.Y234fs*2(1)|p.Y234F(1)|p.T230_Y234delTTIHY(1)|p.H233fs*6(1)|p.Y234R(1)|p.V225fs*23(1)|p.D228fs*12(1)|p.Y234fs*5(1)|p.Y234fs*4(1)|p.I232fs*5(1)|p.H233_C242del10(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)		CATGTAGTTGTAGTGGATGGT	0.572		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)			13	55					0	0	0.435327	0	0	C	7577580	T	C	7577580	3	2	21	1	0	0	0	0	1	0	0	0	16442	1638	57	3	589	3	TP53	17	7577580	Missense_Mutation	SNP	T	TCGA-DB-5270-01A-02D-1468-08		7577580	73617630	25	912											
TP53	7157	broad.mit.edu	37	17	7578479	7578479	+	Missense_Mutation	SNP	G	G	A	rs28934874		TCGA-DB-5270-01A-02D-1468-08	TCGA-DB-5270-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27da0280-b7dc-43ba-a50a-2e9a2c6b1bcf	a52afc7f-a694-44cb-8235-ef78e8c30fa2	g.chr17:7578479G>A	ENST00000420246.2	-	5	583	c.451C>T	c.(451-453)Ccc>Tcc	p.P151S	TP53_ENST00000359597.4_Missense_Mutation_p.P151S|TP53_ENST00000269305.4_Missense_Mutation_p.P151S|TP53_ENST00000413465.2_Missense_Mutation_p.P151S|TP53_ENST00000455263.2_Missense_Mutation_p.P151S|TP53_ENST00000445888.2_Missense_Mutation_p.P151S	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	151	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		P -> A (in sporadic cancers; somatic mutation).|P -> H (in sporadic cancers; somatic mutation).|P -> L (in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934874).|P -> T (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.P151S(68)|p.P151T(16)|p.P151A(13)|p.P152fs*18(9)|p.0?(8)|p.T150fs*16(6)|p.P151fs*30(6)|p.?(5)|p.P58A(2)|p.P58S(2)|p.P19A(2)|p.P19S(2)|p.P151_V173del23(1)|p.P152_P153del(1)|p.P152fs*28(1)|p.T57fs*16(1)|p.P151del(1)|p.D148_T155delDSTPPPGT(1)|p.T150_P153delTPPP(1)|p.D148fs*23(1)|p.S149fs*72(1)|p.P58T(1)|p.S149fs*17(1)|p.Q144_G154del11(1)|p.Q144fs*16(1)|p.P19T(1)|p.P152fs*14(1)|p.T18fs*16(1)|p.T150_P151delTP(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)		CCGGGCGGGGGTGTGGAATCA	0.612		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)			19	61					0	0	0.557998	0	0	A	7578479	G	A	7578479	3	1	21	1	0	0	0	0	1	0	0	0	16442	1261	44	2	847	2	TP53	17	7578479	Missense_Mutation	SNP	G	TCGA-DB-5270-01A-02D-1468-08	899	7578479	73616731	26	913											
MUC16	94025	broad.mit.edu	37	19	9046721	9046721	+	Missense_Mutation	SNP	C	C	A			TCGA-DB-5270-01A-02D-1468-08	TCGA-DB-5270-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27da0280-b7dc-43ba-a50a-2e9a2c6b1bcf	a52afc7f-a694-44cb-8235-ef78e8c30fa2	g.chr19:9046721C>A	ENST00000397910.4	-	5	35113	c.34910G>T	c.(34909-34911)aGt>aTt	p.S11637I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11639	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGTTGCAGAACTAGTGACCTG	0.522													45	111					2.24893e-16	2.61504e-16	0.847076	1	0	A	9046721	C	A	9046721	3	1	21	1	0	0	0	0	1	0	0	0	10021	565	20	4	8933	4	MUC16	19	9046721	Missense_Mutation	SNP	C	TCGA-DB-5270-01A-02D-1468-08		9046721	50082262	27	914											
HKR1	284459	broad.mit.edu	37	19	37854228	37854228	+	Missense_Mutation	SNP	A	A	T			TCGA-DB-5270-01A-02D-1468-08	TCGA-DB-5270-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27da0280-b7dc-43ba-a50a-2e9a2c6b1bcf	a52afc7f-a694-44cb-8235-ef78e8c30fa2	g.chr19:37854228A>T	ENST00000591471.1	+	9	2353	c.712A>T	c.(712-714)Acc>Tcc	p.T238S	HKR1_ENST00000591134.1_Intron|HKR1_ENST00000541583.2_Missense_Mutation_p.T450S|HKR1_ENST00000544914.1_Missense_Mutation_p.T238S|HKR1_ENST00000392153.3_Missense_Mutation_p.T492S|HKR1_ENST00000589392.1_Missense_Mutation_p.T493S|HKR1_ENST00000324411.4_Missense_Mutation_p.T511S			P10072	HKR1_HUMAN	HKR1, GLI-Kruppel zinc finger family member	511					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CCGGAAATCAACCCTGAGCAC	0.507													5	67					0	0	0.248553	0	0	T	37854228	A	T	37854228	3	4	21	1	0	0	0	0	1	0	0	0	7235	43	2	5	1545	5	HKR1	19	37854228	Missense_Mutation	SNP	A	TCGA-DB-5270-01A-02D-1468-08	28807507	37854228	21274755	28	915											
FOXA3	3171	broad.mit.edu	37	19	46376150	46376150	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-5270-01A-02D-1468-08	TCGA-DB-5270-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27da0280-b7dc-43ba-a50a-2e9a2c6b1bcf	a52afc7f-a694-44cb-8235-ef78e8c30fa2	g.chr19:46376150C>T	ENST00000302177.2	+	2	1084	c.887C>T	c.(886-888)gCg>gTg	p.A296V		NM_004497.2	NP_004488.2	P55318	FOXA3_HUMAN	forkhead box A3	296					brain development|cellular glucose homeostasis|cellular response to starvation|chromatin modification|embryo development|endocrine pancreas development|negative regulation of cell proliferation|neural plate anterior/posterior regionalization|neuron fate specification|positive regulation of hepatocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|spermatogenesis	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding			breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)|prostate(1)	13		Ovarian(192;0.0308)|all_neural(266;0.0476)		OV - Ovarian serous cystadenocarcinoma(262;0.00453)|GBM - Glioblastoma multiforme(486;0.0518)|Epithelial(262;0.236)		AAGCTGGACGCGCCCTACAAC	0.602													6	32					0	0	0.248553	0	0	T	46376150	C	T	46376150	3	4	21	1	0	0	0	0	1	0	0	0	6024	768	27	1	893	1	FOXA3	19	46376150	Missense_Mutation	SNP	C	TCGA-DB-5270-01A-02D-1468-08	8521922	46376150	12752833	29	916											
PCSK2	5126	broad.mit.edu	37	20	17462658	17462658	+	Silent	SNP	G	G	A			TCGA-DB-5270-01A-02D-1468-08	TCGA-DB-5270-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27da0280-b7dc-43ba-a50a-2e9a2c6b1bcf	a52afc7f-a694-44cb-8235-ef78e8c30fa2	g.chr20:17462658G>A	ENST00000262545.2	+	12	2175	c.1860G>A	c.(1858-1860)gaG>gaA	p.E620E	PCSK2_ENST00000536609.1_Silent_p.E585E|PCSK2_ENST00000459871.1_3'UTR|PCSK2_ENST00000377899.1_Silent_p.E601E	NM_002594.3	NP_002585.2	P16519	NEC2_HUMAN	proprotein convertase subtilisin/kexin type 2	620					enkephalin processing|insulin processing|islet amyloid polypeptide processing	extracellular space|membrane|soluble fraction|transport vesicle	serine-type endopeptidase activity			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	AGGAGCTGGAGGAAGAGCTGG	0.587													7	21					0	0	0.307466	0	0	A	17462658	G	A	17462658	2	1	21	1	0	0	0	0	0	0	0	1	11648	991	35	2		2	PCSK2	20	17462658	Silent	SNP	G	TCGA-DB-5270-01A-02D-1468-08		17462658	45562862	30	917											
SLC24A3	57419	broad.mit.edu	37	20	19664885	19664885	+	Missense_Mutation	SNP	C	C	G			TCGA-DB-5270-01A-02D-1468-08	TCGA-DB-5270-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27da0280-b7dc-43ba-a50a-2e9a2c6b1bcf	a52afc7f-a694-44cb-8235-ef78e8c30fa2	g.chr20:19664885C>G	ENST00000328041.6	+	11	1164	c.967C>G	c.(967-969)Ctt>Gtt	p.L323V		NM_020689.3	NP_065740.2	Q9HC58	NCKX3_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 3	323						integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						CCCACACCAGCTTTCCTTCTC	0.498													20	39					0	0	0.592651	0	0	G	19664885	C	G	19664885	3	3	21	1	0	0	0	0	1	0	0	0	14522	797	28	4	1009	4	SLC24A3	20	19664885	Missense_Mutation	SNP	C	TCGA-DB-5270-01A-02D-1468-08	2202227	19664885	43360635	31	918											
BAGE2	85319	broad.mit.edu	37	21	11058353	11058353	+	RNA	SNP	T	T	C	rs79433933	by1000genomes	TCGA-DB-5270-01A-02D-1468-08	TCGA-DB-5270-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27da0280-b7dc-43ba-a50a-2e9a2c6b1bcf	a52afc7f-a694-44cb-8235-ef78e8c30fa2	g.chr21:11058353T>C	ENST00000470054.1	-	0	324									B melanoma antigen family, member 2															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)		GAAATCTCTTTATAAAACCTT	0.343													7	101					0	0	0.307466	0	0	C	11058353	T	C	11058353	1	2	21	0	1	0	0	0	0	0	0	0	1290	1769	61	3		3	BAGE2	21	11058353	RNA	SNP	T	TCGA-DB-5270-01A-02D-1468-08		11058353	37071542	32	919											
RTN4R	65078	broad.mit.edu	37	22	20229582	20229582	+	Silent	SNP	C	C	T			TCGA-DB-5270-01A-02D-1468-08	TCGA-DB-5270-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27da0280-b7dc-43ba-a50a-2e9a2c6b1bcf	a52afc7f-a694-44cb-8235-ef78e8c30fa2	g.chr22:20229582C>T	ENST00000043402.7	-	2	1512	c.1074G>A	c.(1072-1074)gcG>gcA	p.A358A		NM_023004.5	NP_075380.1	Q9BZR6	RTN4R_HUMAN	reticulon 4 receptor	358					axonogenesis|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	anchored to membrane|cell surface|endoplasmic reticulum|plasma membrane	protein binding|receptor activity			lung(1)|ovary(1)|prostate(1)	3	Colorectal(54;0.0993)					GTCCCTTCAGCGCATTGCCTG	0.662													12	50					0	0	0.520397	0	0	T	20229582	C	T	20229582	2	4	21	1	0	0	0	0	0	0	0	1	13782	755	27	1		1	RTN4R	22	20229582	Silent	SNP	C	TCGA-DB-5270-01A-02D-1468-08		20229582	31074984	33	920											
DEPDC5	9681	broad.mit.edu	37	22	32293560	32293560	+	Silent	SNP	C	C	T			TCGA-DB-5270-01A-02D-1468-08	TCGA-DB-5270-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27da0280-b7dc-43ba-a50a-2e9a2c6b1bcf	a52afc7f-a694-44cb-8235-ef78e8c30fa2	g.chr22:32293560C>T	ENST00000400246.1	+	40	4438	c.4296C>T	c.(4294-4296)ggC>ggT	p.G1432G	DEPDC5_ENST00000400248.2_Silent_p.G1401G|DEPDC5_ENST00000535622.1_Silent_p.G1332G|DEPDC5_ENST00000539165.1_Silent_p.G249G|DEPDC5_ENST00000382105.2_3'UTR|DEPDC5_ENST00000382112.3_Silent_p.G1423G|DEPDC5_ENST00000266091.3_Silent_p.G1410G|DEPDC5_ENST00000400249.2_Silent_p.G1401G|DEPDC5_ENST00000382111.2_Silent_p.G1432G			O75140	DEPD5_HUMAN	DEP domain containing 5	1401					intracellular signal transduction					breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						ACCTGTATGGCGACCCCCTTC	0.547													38	132					0	0	0.819951	0	0	T	32293560	C	T	32293560	2	4	21	1	0	0	0	0	0	0	0	1	4470	755	27	1		1	DEPDC5	22	32293560	Silent	SNP	C	TCGA-DB-5270-01A-02D-1468-08	12063978	32293560	19011006	34	921											
ATRX	546	broad.mit.edu	37	X	76939371	76939372	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DB-5270-01A-02D-1468-08	TCGA-DB-5270-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27da0280-b7dc-43ba-a50a-2e9a2c6b1bcf	a52afc7f-a694-44cb-8235-ef78e8c30fa2	g.chrX:76939371_76939372insT	ENST00000373344.5	-	9	1590_1591	c.1376_1377insA	c.(1375-1377)aagfs	p.K459fs	ATRX_ENST00000395603.3_Frame_Shift_Ins_p.K421fs|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	459					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)	TAGCTTCTGACTTTGAAATATC	0.361			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						80	343	---	---	---	---						T	76939372	-	T	76939371	7	5	21	1	0	1	1	0	0	0	0	0	1206	564	20	0	6209	0	ATRX	23	76939371	Frame_Shift_Ins	INS	-	TCGA-DB-5270-01A-02D-1468-08		76939371	78331189	35	922											
SLC30A2	7780	broad.mit.edu	37	1	26371659	26371659	+	Missense_Mutation	SNP	G	G	C			TCGA-DB-5273-01A-01D-1468-08	TCGA-DB-5273-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	938f1aec-2069-4c76-8110-7f086b59e86b	54997159-244a-485c-a81f-e546b76046e8	g.chr1:26371659G>C	ENST00000374278.3	-	2	316	c.100C>G	c.(100-102)Ccc>Gcc	p.P34A	SLC30A2_ENST00000498060.1_5'UTR|SLC30A2_ENST00000374276.3_Missense_Mutation_p.P34A	NM_032513.3	NP_115902.1	Q9BRI3	ZNT2_HUMAN	solute carrier family 30 (zinc transporter), member 2	34					positive regulation of sequestering of zinc ion|zinc ion transport	integral to membrane|late endosome|lysosomal membrane	cation transmembrane transporter activity			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)		CCAGGTCGGGGCAGAGGAATC	0.597													24	50					0	0	1	0	0	C	26371659	G	C	26371659	3	2	22	1	0	0	0	0	1	0	0	0	14610	1203	42	5	1046	5	SLC30A2	1	26371659	Missense_Mutation	SNP	G	TCGA-DB-5273-01A-01D-1468-08		26371659	222878962	1	923											
ROR1	4919	broad.mit.edu	37	1	64515592	64515592	+	Silent	SNP	C	C	T	rs148616064		TCGA-DB-5273-01A-01D-1468-08	TCGA-DB-5273-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	938f1aec-2069-4c76-8110-7f086b59e86b	54997159-244a-485c-a81f-e546b76046e8	g.chr1:64515592C>T	ENST00000371079.1	+	3	768	c.393C>T	c.(391-393)tgC>tgT	p.C131C	ROR1_ENST00000482426.1_3'UTR|ROR1_ENST00000371080.1_Silent_p.C131C	NM_005012.3	NP_005003.2	Q01973	ROR1_HUMAN	receptor tyrosine kinase-like orphan receptor 1	131	Ig-like C2-type.				transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			breast(7)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(10)|ovary(6)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	51						ACTTCCAGTGCGTGGCAACAA	0.567													44	81					0	0	1	0	0	T	64515592	C	T	64515592	2	4	22	1	0	0	0	0	0	0	0	1	13578	776	27	1		1	ROR1	1	64515592	Silent	SNP	C	TCGA-DB-5273-01A-01D-1468-08	38143933	64515592	184735029	2	924											
HFM1	164045	broad.mit.edu	37	1	91818120	91818120	+	Silent	SNP	A	A	G			TCGA-DB-5273-01A-01D-1468-08	TCGA-DB-5273-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	938f1aec-2069-4c76-8110-7f086b59e86b	54997159-244a-485c-a81f-e546b76046e8	g.chr1:91818120A>G	ENST00000370425.3	-	16	2018	c.1920T>C	c.(1918-1920)ttT>ttC	p.F640F	HFM1_ENST00000370424.3_Silent_p.F319F|HFM1_ENST00000462405.1_5'UTR|HFM1_ENST00000294696.5_5'UTR	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	640	Helicase C-terminal.						ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		TGTACTCTTCAAACAGTCCTC	0.358													19	99					0	0	1	0	0	G	91818120	A	G	91818120	2	3	22	1	0	0	0	0	0	0	0	1	7124	127	5	3		3	HFM1	1	91818120	Silent	SNP	A	TCGA-DB-5273-01A-01D-1468-08	27302528	91818120	157432501	3	925											
PGLYRP4	57115	broad.mit.edu	37	1	153313006	153313006	+	Missense_Mutation	SNP	G	G	C			TCGA-DB-5273-01A-01D-1468-08	TCGA-DB-5273-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	938f1aec-2069-4c76-8110-7f086b59e86b	54997159-244a-485c-a81f-e546b76046e8	g.chr1:153313006G>C	ENST00000368739.3	-	7	1021	c.663C>G	c.(661-663)caC>caG	p.H221Q	PGLYRP4_ENST00000359650.5_Missense_Mutation_p.H225Q			Q96LB8	PGRP4_HUMAN	peptidoglycan recognition protein 4	225					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			breast(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	23	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			TCCTGGGACAGTGGGTCTCCC	0.602													8	88					0	0	1	0	0	C	153313006	G	C	153313006	3	2	22	1	0	0	0	0	1	0	0	0	11844	1020	36	4	458	4	PGLYRP4	1	153313006	Missense_Mutation	SNP	G	TCGA-DB-5273-01A-01D-1468-08	61494886	153313006	95937615	4	926											
RYR2	6262	broad.mit.edu	37	1	237619969	237619969	+	Missense_Mutation	SNP	G	G	T			TCGA-DB-5273-01A-01D-1468-08	TCGA-DB-5273-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	938f1aec-2069-4c76-8110-7f086b59e86b	54997159-244a-485c-a81f-e546b76046e8	g.chr1:237619969G>T	ENST00000366574.2	+	16	1863	c.1546G>T	c.(1546-1548)Gat>Tat	p.D516Y	RYR2_ENST00000360064.6_Missense_Mutation_p.D514Y|RYR2_ENST00000542537.1_Missense_Mutation_p.D500Y	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	516					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			ACACTTTGCTGATGTTGCTGG	0.438													4	137					1	1	1	1	0	T	237619969	G	T	237619969	3	4	22	1	0	0	0	0	1	0	0	0	13821	1290	45	5	1608	5	RYR2	1	237619969	Missense_Mutation	SNP	G	TCGA-DB-5273-01A-01D-1468-08	84306963	237619969	11630652	5	927											
GPR45	11250	broad.mit.edu	37	2	105858978	105858978	+	Silent	SNP	G	G	A	rs141451236		TCGA-DB-5273-01A-01D-1468-08	TCGA-DB-5273-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	938f1aec-2069-4c76-8110-7f086b59e86b	54997159-244a-485c-a81f-e546b76046e8	g.chr2:105858978G>A	ENST00000258456.1	+	1	779	c.663G>A	c.(661-663)acG>acA	p.T221T		NM_007227.3	NP_009158.3	Q9Y5Y3	GPR45_HUMAN	G protein-coupled receptor 45	221						integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	28						TCCTCAACACGGTCCGCAAGA	0.677													25	62					0	0	1	0	0	A	105858978	G	A	105858978	2	1	22	1	0	0	0	0	0	0	0	1	6736	1103	39	1		1	GPR45	2	105858978	Silent	SNP	G	TCGA-DB-5273-01A-01D-1468-08		105858978	137340395	6	928											
NEB	4703	broad.mit.edu	37	2	152406213	152406213	+	Silent	SNP	A	A	G			TCGA-DB-5273-01A-01D-1468-08	TCGA-DB-5273-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	938f1aec-2069-4c76-8110-7f086b59e86b	54997159-244a-485c-a81f-e546b76046e8	g.chr2:152406213A>G	ENST00000397345.3	-	130	20188	c.19986T>C	c.(19984-19986)taT>taC	p.Y6662Y	NEB_ENST00000172853.10_Silent_p.Y4961Y|NEB_ENST00000427231.2_Silent_p.Y6662Y|NEB_ENST00000604864.1_Silent_p.Y6662Y|NEB_ENST00000603639.1_Silent_p.Y6662Y|NEB_ENST00000409198.1_Silent_p.Y4961Y	NM_001164508.1	NP_001157980	P20929	NEBU_HUMAN	nebulin	4961	SH3.				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CTGGAAGTCTATATCCAGTGG	0.488													4	22					0	0	1	0	0	G	152406213	A	G	152406213	2	3	22	1	0	0	0	0	0	0	0	1	10349	456	16	3		3	NEB	2	152406213	Silent	SNP	A	TCGA-DB-5273-01A-01D-1468-08	46547235	152406213	90793160	7	929											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-DB-5273-01A-01D-1468-08	TCGA-DB-5273-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	938f1aec-2069-4c76-8110-7f086b59e86b	54997159-244a-485c-a81f-e546b76046e8	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	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								28	72					0	0	1	0	0	T	209113112	C	T	209113112	3	4	22	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-DB-5273-01A-01D-1468-08	56706899	209113112	34086261	8	930											
SNED1	25992	broad.mit.edu	37	2	241969887	241969887	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-5273-01A-01D-1468-08	TCGA-DB-5273-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	938f1aec-2069-4c76-8110-7f086b59e86b	54997159-244a-485c-a81f-e546b76046e8	g.chr2:241969887G>A	ENST00000310397.8	+	2	400	c.400G>A	c.(400-402)Gtc>Atc	p.V134I	SNED1_ENST00000342631.6_Missense_Mutation_p.V134I|SNED1_ENST00000405547.3_Missense_Mutation_p.V134I|SNED1_ENST00000401884.1_Missense_Mutation_p.V134I|AC005237.4_ENST00000458377.1_RNA	NM_001080437.1	NP_001073906.1	Q8TER0	SNED1_HUMAN	sushi, nidogen and EGF-like domains 1	134	NIDO.				cell-matrix adhesion	extracellular region	calcium ion binding			NS(1)|breast(1)|central_nervous_system(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	24		all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109)		CACGGAGGACGTCAGGCACTA	0.627													6	22					0	0	1	0	0	A	241969887	G	A	241969887	3	1	22	1	0	0	0	0	1	0	0	0	14899	1145	40	1	406	1	SNED1	2	241969887	Missense_Mutation	SNP	G	TCGA-DB-5273-01A-01D-1468-08	32856775	241969887	1229486	9	931											
TLR1	7096	broad.mit.edu	37	4	38799315	38799315	+	Missense_Mutation	SNP	G	G	T			TCGA-DB-5273-01A-01D-1468-08	TCGA-DB-5273-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	938f1aec-2069-4c76-8110-7f086b59e86b	54997159-244a-485c-a81f-e546b76046e8	g.chr4:38799315G>T	ENST00000308979.2	-	4	1411	c.1138C>A	c.(1138-1140)Caa>Aaa	p.Q380K	TLR1_ENST00000502213.2_Missense_Mutation_p.Q380K	NM_003263.3	NP_003254.2	Q15399	TLR1_HUMAN	toll-like receptor 1	380					cellular response to triacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|inflammatory response|innate immune response|macrophage activation|positive regulation of interleukin-6 biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	integral to plasma membrane|phagocytic vesicle membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex	protein heterodimerization activity|transmembrane receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(2)	28						TGATTCATTTGTAAAATAAGT	0.343													3	61					1	1	1	1	0	T	38799315	G	T	38799315	3	4	22	1	0	0	0	0	1	0	0	0	16009	1386	48	5	1226	5	TLR1	4	38799315	Missense_Mutation	SNP	G	TCGA-DB-5273-01A-01D-1468-08		38799315	152354961	10	932											
RUFY1	80230	broad.mit.edu	37	5	179016595	179016595	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DB-5273-01A-01D-1468-08	TCGA-DB-5273-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	938f1aec-2069-4c76-8110-7f086b59e86b	54997159-244a-485c-a81f-e546b76046e8	g.chr5:179016595C>T	ENST00000319449.4	+	9	1087	c.1075C>T	c.(1075-1077)Cag>Tag	p.Q359*	RUFY1_ENST00000437570.2_Nonsense_Mutation_p.Q251*|RUFY1_ENST00000393438.2_Nonsense_Mutation_p.Q251*|RUFY1_ENST00000377001.2_Missense_Mutation_p.A407V	NM_025158.4	NP_079434.3	Q96T51	RUFY1_HUMAN	RUN and FYVE domain containing 1	359					endocytosis|protein transport	early endosome membrane	lipid binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	26	all_cancers(89;0.00018)|all_epithelial(37;8.37e-05)|Renal(175;0.000159)|Lung NSC(126;0.00108)|all_lung(126;0.00195)	all_cancers(40;0.0322)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGAACAGCAGCAGTTAAGAGA	0.353										HNSCC(44;0.11)			25	48					0	0	1	0	0	T	179016595	C	T	179016595	4	4	22	1	0	0	0	0	0	1	0	0	13790	711	25	2	1109	2	RUFY1	5	179016595	Nonsense_Mutation	SNP	C	TCGA-DB-5273-01A-01D-1468-08		179016595	1898665	11	933											
ARMC2	84071	broad.mit.edu	37	6	109294621	109294621	+	Silent	SNP	T	T	C			TCGA-DB-5273-01A-01D-1468-08	TCGA-DB-5273-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	938f1aec-2069-4c76-8110-7f086b59e86b	54997159-244a-485c-a81f-e546b76046e8	g.chr6:109294621T>C	ENST00000392644.4	+	18	2676	c.2508T>C	c.(2506-2508)caT>caC	p.H836H	ARMC2_ENST00000368972.3_Silent_p.H671H	NM_032131.4	NP_115507.4	Q8NEN0	ARMC2_HUMAN	armadillo repeat containing 2	836							binding			endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)	24		all_cancers(87;1.14e-07)|Acute lymphoblastic leukemia(125;2.3e-10)|all_hematologic(75;3.3e-08)|all_epithelial(87;0.000111)|Colorectal(196;0.03)|all_lung(197;0.11)		Epithelial(106;0.000197)|BRCA - Breast invasive adenocarcinoma(108;0.000236)|all cancers(137;0.000279)|OV - Ovarian serous cystadenocarcinoma(136;0.00434)		ACAAACTCCATTGGGAAACAG	0.393													50	70					0	0	1	0	0	C	109294621	T	C	109294621	2	2	22	1	0	0	0	0	0	0	0	1	950	1490	52	3		3	ARMC2	6	109294621	Silent	SNP	T	TCGA-DB-5273-01A-01D-1468-08		109294621	61820446	12	934											
OR2A12	346525	broad.mit.edu	37	7	143793006	143793006	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-5273-01A-01D-1468-08	TCGA-DB-5273-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	938f1aec-2069-4c76-8110-7f086b59e86b	54997159-244a-485c-a81f-e546b76046e8	g.chr7:143793006G>A	ENST00000408949.2	+	1	866	c.806G>A	c.(805-807)cGg>cAg	p.R269Q		NM_001004135.1	NP_001004135.1	Q8NGT7	O2A12_HUMAN	olfactory receptor, family 2, subfamily A, member 12	269					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)	25	Melanoma(164;0.0783)					TCTCAAGAACGGAGGAAGATC	0.527													8	335					0	0	1	0	0	A	143793006	G	A	143793006	3	1	22	1	0	0	0	0	1	0	0	0	11023	1116	39	1	808	1	OR2A12	7	143793006	Missense_Mutation	SNP	G	TCGA-DB-5273-01A-01D-1468-08		143793006	15345657	13	935											
ADAM32	203102	broad.mit.edu	37	8	39091490	39091490	+	Silent	SNP	G	G	C			TCGA-DB-5273-01A-01D-1468-08	TCGA-DB-5273-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	938f1aec-2069-4c76-8110-7f086b59e86b	54997159-244a-485c-a81f-e546b76046e8	g.chr8:39091490G>C	ENST00000379907.4	+	16	1834	c.1707G>C	c.(1705-1707)gtG>gtC	p.V569V	ADAM32_ENST00000519315.1_Silent_p.V463V|ADAM32_ENST00000437682.2_Silent_p.V470V	NM_145004.5	NP_659441	Q8TC27	ADA32_HUMAN	ADAM metallopeptidase domain 32	569					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	31		all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503)	LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146)			ATGGTGATGTGATTTATGCTT	0.368													8	16					0	0	1	0	0	C	39091490	G	C	39091490	2	2	22	1	0	0	0	0	0	0	0	1	248	1277	45	5		5	ADAM32	8	39091490	Silent	SNP	G	TCGA-DB-5273-01A-01D-1468-08		39091490	107272532	14	936											
OR5M8	219484	broad.mit.edu	37	11	56258829	56258829	+	Silent	SNP	C	C	T	rs137871700		TCGA-DB-5273-01A-01D-1468-08	TCGA-DB-5273-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	938f1aec-2069-4c76-8110-7f086b59e86b	54997159-244a-485c-a81f-e546b76046e8	g.chr11:56258829C>T	ENST00000327216.2	-	1	42	c.18G>A	c.(16-18)acG>acA	p.T6T		NM_001005282.1	NP_001005282.1	Q8NGP6	OR5M8_HUMAN	olfactory receptor, family 5, subfamily M, member 8	6					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(22)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Esophageal squamous(21;0.00352)					CAGTCACCAACGTGCAGTTTC	0.408													36	88					0	0	1	0	0	T	56258829	C	T	56258829	2	4	22	1	0	0	0	0	0	0	0	1	11223	523	19	1		1	OR5M8	11	56258829	Silent	SNP	C	TCGA-DB-5273-01A-01D-1468-08		56258829	78747687	15	937											
SESN3	143686	broad.mit.edu	37	11	94923103	94923103	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-5273-01A-01D-1468-08	TCGA-DB-5273-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	938f1aec-2069-4c76-8110-7f086b59e86b	54997159-244a-485c-a81f-e546b76046e8	g.chr11:94923103G>A	ENST00000536441.1	-	4	701	c.365C>T	c.(364-366)tCt>tTt	p.S122F	RP11-712B9.2_ENST00000534864.1_RNA|RP11-712B9.2_ENST00000534891.1_RNA|SESN3_ENST00000416495.2_Missense_Mutation_p.S122F|SESN3_ENST00000278499.2_Intron|SESN3_ENST00000393234.1_Missense_Mutation_p.S122F	NM_001271594.1|NM_144665.2	NP_001258523.1|NP_653266.2	P58005	SESN3_HUMAN	sestrin 3	122					cell cycle arrest	nucleus				endometrium(5)|large_intestine(6)|lung(3)|skin(1)|stomach(1)	16		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)		BRCA - Breast invasive adenocarcinoma(274;0.234)		TATTAAGTAAGAACACTGATG	0.328													20	61					0	0	1	0	0	A	94923103	G	A	94923103	3	1	22	1	0	0	0	0	1	0	0	0	14180	942	33	2	1141	2	SESN3	11	94923103	Missense_Mutation	SNP	G	TCGA-DB-5273-01A-01D-1468-08	38664274	94923103	40083413	16	938											
LIMA1	51474	broad.mit.edu	37	12	50586281	50586281	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-5273-01A-01D-1468-08	TCGA-DB-5273-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	938f1aec-2069-4c76-8110-7f086b59e86b	54997159-244a-485c-a81f-e546b76046e8	g.chr12:50586281G>A	ENST00000547825.1	-	3	1457	c.188C>T	c.(187-189)tCc>tTc	p.S63F	LIMA1_ENST00000552783.1_Missense_Mutation_p.S206F|LIMA1_ENST00000394943.3_Missense_Mutation_p.S366F|LIMA1_ENST00000552008.1_5'UTR|LIMA1_ENST00000341247.4_Missense_Mutation_p.S365F|LIMA1_ENST00000552491.1_Missense_Mutation_p.S63F|LIMA1_ENST00000552909.1_Missense_Mutation_p.S205F|LIMA1_ENST00000552823.1_Missense_Mutation_p.S205F	NM_001243775.1	NP_001230704.1	Q9UHB6	LIMA1_HUMAN	LIM domain and actin binding 1	365					actin filament bundle assembly|negative regulation of actin filament depolymerization|ruffle organization	cytoplasm|focal adhesion|stress fiber	actin filament binding|actin monomer binding|zinc ion binding			NS(1)|breast(4)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(2)	44						GGAGGCTCTGGAATCTGGACT	0.458													8	90					0	0	1	0	0	A	50586281	G	A	50586281	3	1	22	1	0	0	0	0	1	0	0	0	8836	1174	41	2	1197	2	LIMA1	12	50586281	Missense_Mutation	SNP	G	TCGA-DB-5273-01A-01D-1468-08		50586281	83265614	17	939											
RBMS2	5939	broad.mit.edu	37	12	56975653	56975653	+	Missense_Mutation	SNP	C	C	G			TCGA-DB-5273-01A-01D-1468-08	TCGA-DB-5273-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	938f1aec-2069-4c76-8110-7f086b59e86b	54997159-244a-485c-a81f-e546b76046e8	g.chr12:56975653C>G	ENST00000262031.5	+	8	864	c.769C>G	c.(769-771)Ctt>Gtt	p.L257V	RBMS2_ENST00000550726.1_Missense_Mutation_p.L132V|RBMS2_ENST00000552247.2_Missense_Mutation_p.L257V|RBMS2_ENST00000542360.1_Missense_Mutation_p.L112V	NM_002898.3	NP_002889.1	Q15434	RBMS2_HUMAN	RNA binding motif, single stranded interacting protein 2	257					RNA processing	nucleus	nucleotide binding|RNA binding			breast(1)|endometrium(1)|large_intestine(2)|lung(8)|prostate(3)|skin(2)|urinary_tract(1)	18						CACCACAGCTCTTCAGAATGG	0.433													5	211					0	0	1	0	0	G	56975653	C	G	56975653	3	3	22	1	0	0	0	0	1	0	0	0	13201	913	32	4	799	4	RBMS2	12	56975653	Missense_Mutation	SNP	C	TCGA-DB-5273-01A-01D-1468-08	6389372	56975653	76876242	18	940											
TMEM132D	121256	broad.mit.edu	37	12	130185090	130185090	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-5273-01A-01D-1468-08	TCGA-DB-5273-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	938f1aec-2069-4c76-8110-7f086b59e86b	54997159-244a-485c-a81f-e546b76046e8	g.chr12:130185090C>T	ENST00000422113.2	-	2	559	c.233G>A	c.(232-234)cGg>cAg	p.R78Q		NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	78						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		TGACTCCACCCGGGACTGCAG	0.547													27	64					0	0	1	0	0	T	130185090	C	T	130185090	3	4	22	1	0	0	0	0	1	0	0	0	16107	652	23	1	3098	1	TMEM132D	12	130185090	Missense_Mutation	SNP	C	TCGA-DB-5273-01A-01D-1468-08	73209437	130185090	3666805	19	941											
TP53	7157	broad.mit.edu	37	17	7577120	7577120	+	Missense_Mutation	SNP	C	C	T	rs28934576	by1000genomes	TCGA-DB-5273-01A-01D-1468-08	TCGA-DB-5273-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	938f1aec-2069-4c76-8110-7f086b59e86b	54997159-244a-485c-a81f-e546b76046e8	g.chr17:7577120C>T	ENST00000420246.2	-	8	950	c.818G>A	c.(817-819)cGt>cAt	p.R273H	TP53_ENST00000413465.2_Intron|TP53_ENST00000269305.4_Missense_Mutation_p.R273H|TP53_ENST00000359597.4_Missense_Mutation_p.R273H|TP53_ENST00000445888.2_Missense_Mutation_p.R273H|TP53_ENST00000455263.2_Missense_Mutation_p.R273H	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	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).		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.R273H(521)|p.R273L(93)|p.R273P(32)|p.0?(8)|p.?(2)|p.R273fs*32(2)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273S(1)|p.E258fs*71(1)|p.R273fs*72(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.R273fs*33(1)|p.E271_R273delEVR(1)|p.V272_K292del21(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	0.542	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)			35	11					0	0	1	0	0	T	7577120	C	T	7577120	3	4	22	1	0	0	0	0	1	0	0	0	16442	536	19	1	468	1	TP53	17	7577120	Missense_Mutation	SNP	C	TCGA-DB-5273-01A-01D-1468-08		7577120	73618090	20	942											
TCEB3B	51224	broad.mit.edu	37	18	44561501	44561501	+	Silent	SNP	C	C	T			TCGA-DB-5273-01A-01D-1468-08	TCGA-DB-5273-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	938f1aec-2069-4c76-8110-7f086b59e86b	54997159-244a-485c-a81f-e546b76046e8	g.chr18:44561501C>T	ENST00000332567.4	-	1	487	c.135G>A	c.(133-135)gcG>gcA	p.A45A	KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000245121.5_Intron	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN	transcription elongation factor B polypeptide 3B (elongin A2)	45	TFIIS N-terminal.				regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding			breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						TTCCAGTCTCCGCCAGGATGT	0.577													11	43					0	0	1	0	0	T	44561501	C	T	44561501	2	4	22	1	0	0	0	0	0	0	0	1	15742	639	23	1		1	TCEB3B	18	44561501	Silent	SNP	C	TCGA-DB-5273-01A-01D-1468-08		44561501	33515747	21	943											
PPP1R12C	54776	broad.mit.edu	37	19	55607493	55607493	+	Missense_Mutation	SNP	G	G	C			TCGA-DB-5273-01A-01D-1468-08	TCGA-DB-5273-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	938f1aec-2069-4c76-8110-7f086b59e86b	54997159-244a-485c-a81f-e546b76046e8	g.chr19:55607493G>C	ENST00000263433.3	-	8	1094	c.1079C>G	c.(1078-1080)tCc>tGc	p.S360C	PPP1R12C_ENST00000376393.2_Missense_Mutation_p.S360C|PPP1R12C_ENST00000435544.2_Missense_Mutation_p.S286C	NM_001271618.1|NM_017607.2	NP_001258547.1|NP_060077.1	Q9BZL4	PP12C_HUMAN	protein phosphatase 1, regulatory subunit 12C	360						cytoplasm				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	22			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0449)		GCGCTCCTTGGACAAGTCCTG	0.657													14	83					0	0	1	0	0	C	55607493	G	C	55607493	3	2	22	1	0	0	0	0	1	0	0	0	12405	1174	41	5	1329	5	PPP1R12C	19	55607493	Missense_Mutation	SNP	G	TCGA-DB-5273-01A-01D-1468-08		55607493	3521490	22	944											
ATRX	546	broad.mit.edu	37	X	76939964	76939964	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DB-5273-01A-01D-1468-08	TCGA-DB-5273-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	938f1aec-2069-4c76-8110-7f086b59e86b	54997159-244a-485c-a81f-e546b76046e8	g.chrX:76939964G>A	ENST00000373344.5	-	9	998	c.784C>T	c.(784-786)Caa>Taa	p.Q262*	ATRX_ENST00000395603.3_Nonsense_Mutation_p.Q224*|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	262	ADD.				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)	CAATACCATTGGTTGTTTTCA	0.393			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						146	59					0	0	1	0	0	A	76939964	G	A	76939964	4	1	22	1	0	0	0	0	0	1	0	0	1206	1357	47	2	6802	2	ATRX	23	76939964	Nonsense_Mutation	SNP	G	TCGA-DB-5273-01A-01D-1468-08		76939964	78330596	23	945											
HSPG2	3339	broad.mit.edu	37	1	22211318	22211318	+	Silent	SNP	G	G	A			TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chr1:22211318G>A	ENST00000374695.3	-	12	1528	c.1449C>T	c.(1447-1449)aaC>aaT	p.N483N		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	483	Ig-like C2-type 1.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	TGCCCCGGGCGTTCATGGCCT	0.627													11	19					0	0	1	0	0	A	22211318	G	A	22211318	2	1	23	1	0	0	0	0	0	0	0	1	7474	1136	40	1		1	HSPG2	1	22211318	Silent	SNP	G	TCGA-DB-5274-01A-01D-1468-08		22211318	227039303	1	946											
FUBP1	8880	broad.mit.edu	37	1	78432402	78432405	+	Frame_Shift_Del	DEL	AACA	AACA	-			TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chr1:78432402_78432405delAACA	ENST00000370767.1	-	7	533_536	c.446_449delTGTT	c.(445-450)atgttafs	p.ML149fs	FUBP1_ENST00000436586.2_Frame_Shift_Del_p.ML170fs|FUBP1_ENST00000370768.2_Frame_Shift_Del_p.ML149fs			Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1	149	KH 1.				transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						TGTTCCAGTTAACATACAGGACCT	0.338			"F, N"		oligodendroglioma								30	43	---	---	---	---						-	78432405	AACA	-	78432402	7	5	23	1	0	1	0	1	0	0	0	0	6127	372	13	0	1541	0	FUBP1	1	78432402	Frame_Shift_Del	DEL	AACA	TCGA-DB-5274-01A-01D-1468-08	56221084	78432402	170818219	2	947											
BTBD8	284697	broad.mit.edu	37	1	92546168	92546168	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chr1:92546168C>T	ENST00000370382.3	+	1	307	c.40C>T	c.(40-42)Ctt>Ttt	p.L14F	BTBD8_ENST00000342818.3_Missense_Mutation_p.L14F|BTBD8_ENST00000540648.1_Missense_Mutation_p.L14F			Q5XKL5	BTBD8_HUMAN	BTB (POZ) domain containing 8	14						nucleus				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)	16		all_lung(203;0.0484)|Lung NSC(277;0.126)|Glioma(108;0.222)		all cancers(265;0.0153)|Epithelial(280;0.0982)		CCCCATGGTACTTCTGGGGTC	0.657													5	25					0	0	1	0	0	T	92546168	C	T	92546168	3	4	23	1	0	0	0	0	1	0	0	0	1550	565	20	2	42	2	BTBD8	1	92546168	Missense_Mutation	SNP	C	TCGA-DB-5274-01A-01D-1468-08	14113766	92546168	156704453	3	948											
FAM102B	284611	broad.mit.edu	37	1	109103056	109103058	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chr1:109103056_109103058delGAA	ENST00000370035.3	+	1	346_348	c.6_8delGAA	c.(4-9)atgaag>atg	p.K6del	FAM102B_ENST00000405454.1_In_Frame_Del_p.K6del	NM_001010883.2	NP_001010883.2	Q5T8I3	F102B_HUMAN	family with sequence similarity 102, member B	6	Poly-Lys.									autonomic_ganglia(1)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	5		all_epithelial(167;5.52e-05)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0217)|Lung(183;0.109)|COAD - Colon adenocarcinoma(174;0.141)|Epithelial(280;0.182)		TCACGATGATGAAGAAGAAGAAG	0.64													12	8	---	---	---	---						-	109103058	GAA	-	109103056	7	5	23	1	0	1	0	1	0	0	0	0	5414	1290	45	0	8	0	FAM102B	1	109103056	In_Frame_Del	DEL	GAA	TCGA-DB-5274-01A-01D-1468-08	16556888	109103056	140147565	4	949											
C1orf56	54964	broad.mit.edu	37	1	151021328	151021331	+	Splice_Site	DEL	AGTA	AGTA	-			TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chr1:151021328_151021331delAGTA	ENST00000368926.5	+	1	1113	c.1005delAGTA	c.(1003-1005)cca>cc	p.P335fs	C1orf56_ENST00000465135.1_3'UTR	NM_017860.3	NP_060330.2	Q9BUN1	CA056_HUMAN	chromosome 1 open reading frame 56	335						extracellular region				endometrium(1)|kidney(1)|lung(3)|ovary(1)|prostate(1)	7	Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			AGATGCAACCAGTAAGTGTTTGGT	0.505											OREG0013793	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	40	120	---	---	---	---						-	151021331	AGTA	-	151021328	8	5	23	1	0	1	0	1	0	0	1	0	2062	202	7	0	1007	0	C1orf56	1	151021328	Splice_Site	DEL	AGTA	TCGA-DB-5274-01A-01D-1468-08	41918272	151021328	98229293	5	950											
TPR	7175	broad.mit.edu	37	1	186315342	186315342	+	Missense_Mutation	SNP	C	C	G			TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chr1:186315342C>G	ENST00000367478.4	-	23	3317	c.3021G>C	c.(3019-3021)aaG>aaC	p.K1007N		NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein						carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity			autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		CTTCCATCAACTTCTTTTCCA	0.353			T	NTRK1	papillary thyroid								11	172					0	0	1	0	0	G	186315342	C	G	186315342	3	3	23	1	0	0	0	0	1	0	0	0	16477	564	20	4	4186	4	TPR	1	186315342	Missense_Mutation	SNP	C	TCGA-DB-5274-01A-01D-1468-08	35294014	186315342	62935279	6	951											
HHAT	55733	broad.mit.edu	37	1	210761338	210761338	+	Silent	SNP	C	C	T	rs139136517		TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chr1:210761338C>T	ENST00000367010.1	+	10	1367	c.1140C>T	c.(1138-1140)ggC>ggT	p.G380G	HHAT_ENST00000413764.2_Silent_p.G380G|HHAT_ENST00000391905.3_Silent_p.G380G|HHAT_ENST00000537898.1_Silent_p.G315G|HHAT_ENST00000261458.3_Silent_p.G380G|HHAT_ENST00000367009.1_Silent_p.G70G|HHAT_ENST00000545154.1_Silent_p.G381G|HHAT_ENST00000541565.1_Silent_p.G243G|HHAT_ENST00000308852.6_Silent_p.G335G|HHAT_ENST00000545781.1_Silent_p.G317G	NM_001170580.1	NP_001164051.1	Q5VTY9	HHAT_HUMAN	hedgehog acyltransferase	380					multicellular organismal development	endoplasmic reticulum membrane|integral to membrane	GTP binding			breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	27				OV - Ovarian serous cystadenocarcinoma(81;0.0136)|all cancers(67;0.161)|KIRC - Kidney renal clear cell carcinoma(1967;0.215)		ACTGGCATGGCGGCTACGACT	0.587													6	57					0	0	1	0	0	T	210761338	C	T	210761338	2	4	23	1	0	0	0	0	0	0	0	1	7130	755	27	1		1	HHAT	1	210761338	Silent	SNP	C	TCGA-DB-5274-01A-01D-1468-08	24445996	210761338	38489283	7	952											
EPC2	26122	broad.mit.edu	37	2	149511681	149511682	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chr2:149511681_149511682delAG	ENST00000258484.6	+	4	679_680	c.645_646delAG	c.(643-648)acagagfs	p.E216fs		NM_015630.3	NP_056445.3	Q52LR7	EPC2_HUMAN	enhancer of polycomb homolog 2 (Drosophila)	216					chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.0516)		GGAGAAGAACAGAGAAAATGCA	0.361													13	13	---	---	---	---						-	149511682	AG	-	149511681	7	5	23	1	0	1	0	1	0	0	0	0	5189	175	7	0	659	0	EPC2	2	149511681	Frame_Shift_Del	DEL	AG	TCGA-DB-5274-01A-01D-1468-08		149511681	93687692	8	953											
TTN	7273	broad.mit.edu	37	2	179435116	179435116	+	Missense_Mutation	SNP	C	C	A			TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chr2:179435116C>A	ENST00000589042.1	-	326	75967	c.75743G>T	c.(75742-75744)aGc>aTc	p.S25248I	TTN_ENST00000342992.6_Missense_Mutation_p.S22680I|TTN_ENST00000342175.6_Missense_Mutation_p.S16375I|TTN_ENST00000591111.1_Missense_Mutation_p.S23607I|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.S16308I|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.S16183I	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	23607	Ig-like 124.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AACTAAGCGGCTGGTTTCTCT	0.438													3	65					1	1	1	1	0	A	179435116	C	A	179435116	3	1	23	1	0	0	0	0	1	0	0	0	16797	797	28	4	32384	4	TTN	2	179435116	Missense_Mutation	SNP	C	TCGA-DB-5274-01A-01D-1468-08	29923435	179435116	63764257	9	954											
TTN	7273	broad.mit.edu	37	2	179645981	179645981	+	Silent	SNP	C	C	T			TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chr2:179645981C>T	ENST00000589042.1	-	21	3614	c.3390G>A	c.(3388-3390)gtG>gtA	p.V1130V	TTN_ENST00000342992.6_Silent_p.V1130V|TTN_ENST00000342175.6_Silent_p.V1084V|TTN_ENST00000360870.5_Silent_p.V1130V|TTN_ENST00000591111.1_Silent_p.V1130V|TTN_ENST00000359218.5_Silent_p.V1084V|TTN_ENST00000460472.2_Silent_p.V1084V	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	1130	Ig-like 4.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGTTGTAACTCACTTTGTATC	0.353													23	70					0	0	1	0	0	T	179645981	C	T	179645981	2	4	23	1	0	0	0	0	0	0	0	1	16797	813	29	2		2	TTN	2	179645981	Silent	SNP	C	TCGA-DB-5274-01A-01D-1468-08	210865	179645981	63553392	10	955											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	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	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								42	103					0	0	1	0	0	T	209113112	C	T	209113112	3	4	23	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-DB-5274-01A-01D-1468-08	29467131	209113112	34086261	11	956											
TRIP12	9320	broad.mit.edu	37	2	230672968	230672968	+	Splice_Site	SNP	C	C	A			TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chr2:230672968C>A	ENST00000283943.5	-	15	2373	c.2195G>T	c.(2194-2196)tGt>tTt	p.C732F	TRIP12_ENST00000389045.3_Splice_Site_p.C435F|TRIP12_ENST00000543084.1_Intron|TRIP12_ENST00000389044.4_Splice_Site_p.C780F	NM_001284214.1|NM_004238.1	NP_001271143.1|NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	732					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		CAATCTTTACCAAATCAGAGA	0.488													4	79					0.00909568	0.0106349	1	1	0	A	230672968	C	A	230672968	5	1	23	1	0	0	0	0	0	0	1	0	16617	608	21	5	3891	5	TRIP12	2	230672968	Splice_Site	SNP	C	TCGA-DB-5274-01A-01D-1468-08	21559856	230672968	12526405	12	957											
TBC1D23	55773	broad.mit.edu	37	3	99979910	99979910	+	Silent	SNP	C	C	T			TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chr3:99979910C>T	ENST00000394144.4	+	1	55	c.48C>T	c.(46-48)gaC>gaT	p.D16D	TBC1D23_ENST00000344949.5_Silent_p.D16D|TBC1D23_ENST00000486274.1_3'UTR	NM_001199198.2	NP_001186127.1	Q9NUY8	TBC23_HUMAN	TBC1 domain family, member 23	16						intracellular	Rab GTPase activator activity			breast(1)|endometrium(1)|large_intestine(7)|liver(1)|lung(10)|ovary(1)|prostate(2)|skin(2)	25						CGAGCGGCGACGGCTGGTGAG	0.597													3	61					0	0	1	0	0	T	99979910	C	T	99979910	2	4	23	1	0	0	0	0	0	0	0	1	15670	535	19	1		1	TBC1D23	3	99979910	Silent	SNP	C	TCGA-DB-5274-01A-01D-1468-08		99979910	98042520	13	958											
MYH15	22989	broad.mit.edu	37	3	108103610	108103612	+	In_Frame_Del	DEL	TTC	TTC	-			TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chr3:108103610_108103612delTTC	ENST00000273353.3	-	40	5669_5671	c.5613_5615delGAA	c.(5611-5616)aagaat>aat	p.K1871del		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	1871						myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						CCTGCTCAGATTCTTCTTGTCTT	0.473													55	131	---	---	---	---						-	108103612	TTC	-	108103610	7	5	23	1	0	1	0	1	0	0	0	0	10082	1493	52	0	237	0	MYH15	3	108103610	In_Frame_Del	DEL	TTC	TCGA-DB-5274-01A-01D-1468-08	8123700	108103610	89918820	14	959											
MYH15	22989	broad.mit.edu	37	3	108220660	108220660	+	Missense_Mutation	SNP	G	G	T			TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chr3:108220660G>T	ENST00000273353.3	-	4	354	c.298C>A	c.(298-300)Cca>Aca	p.P100T		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	100	Myosin head-like.					myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						TCAAACTCTGGAGGATTCATC	0.443													4	236					0.184627	0.200452	1	1	0	T	108220660	G	T	108220660	3	4	23	1	0	0	0	0	1	0	0	0	10082	1174	41	5	5698	5	MYH15	3	108220660	Missense_Mutation	SNP	G	TCGA-DB-5274-01A-01D-1468-08	117050	108220660	89801770	15	960											
PARP14	54625	broad.mit.edu	37	3	122419983	122419983	+	Missense_Mutation	SNP	C	C	A			TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chr3:122419983C>A	ENST00000474629.2	+	6	2848	c.2582C>A	c.(2581-2583)cCg>cAg	p.P861Q		NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	861	Macro 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	NAD+ ADP-ribosyltransferase activity			NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		AGACTCCTACCGGGCAATGCC	0.617													4	30					1	1	1	1	0	A	122419983	C	A	122419983	3	1	23	1	0	0	0	0	1	0	0	0	11505	652	23	5	2604	5	PARP14	3	122419983	Missense_Mutation	SNP	C	TCGA-DB-5274-01A-01D-1468-08	14199323	122419983	75602447	16	961											
STAG1	10274	broad.mit.edu	37	3	136117601	136117601	+	Missense_Mutation	SNP	G	G	C			TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chr3:136117601G>C	ENST00000383202.2	-	22	2523	c.2267C>G	c.(2266-2268)tCt>tGt	p.S756C	STAG1_ENST00000236698.5_Missense_Mutation_p.S756C|STAG1_ENST00000536929.1_Missense_Mutation_p.S340C|STAG1_ENST00000434713.2_Missense_Mutation_p.S530C	NM_005862.2	NP_005853.2	Q8WVM7	STAG1_HUMAN	stromal antigen 1	756					cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase	cell junction|chromatin|chromosome, centromeric region|nucleoplasm	protein binding	p.S756C(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						TTTGGAAGGAGAGCCATCAGT	0.313													19	58					0	0	1	0	0	C	136117601	G	C	136117601	3	2	23	1	0	0	0	0	1	0	0	0	15298	942	33	4	1561	4	STAG1	3	136117601	Missense_Mutation	SNP	G	TCGA-DB-5274-01A-01D-1468-08	13697618	136117601	61904829	17	962											
RBP1	5947	broad.mit.edu	37	3	139237308	139237308	+	Silent	SNP	C	C	T			TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chr3:139237308C>T	ENST00000232219.2	-	3	605	c.495G>A	c.(493-495)gaG>gaA	p.E165E	RP11-319G6.1_ENST00000515247.1_RNA	NM_002899.3	NP_002890.2	P09455	RET1_HUMAN	retinol binding protein 1, cellular	103						cytoplasm	retinal binding|retinol binding|transporter activity			endometrium(1)|large_intestine(2)|lung(1)|prostate(1)	5					Vitamin A(DB00162)	AGCCACGCCCCTCCTTCTCAC	0.597													7	102					0	0	1	0	0	T	139237308	C	T	139237308	2	4	23	1	0	0	0	0	0	0	0	1	13207	680	24	2		2	RBP1	3	139237308	Silent	SNP	C	TCGA-DB-5274-01A-01D-1468-08	3119707	139237308	58785122	18	963											
CSN3	1448	broad.mit.edu	37	4	71115076	71115076	+	Missense_Mutation	SNP	C	C	A			TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chr4:71115076C>A	ENST00000304954.3	+	4	535	c.449C>A	c.(448-450)cCa>cAa	p.P150Q		NM_005212.2	NP_005203.2	P07498	CASK_HUMAN	casein kappa	150						extracellular region	protein binding			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18						GCCACTGAACCAACGGTGGAC	0.463													3	63					0.014758	0.0167404	1	1	0	A	71115076	C	A	71115076	3	1	23	1	0	0	0	0	1	0	0	0	3974	594	21	5	459	5	CSN3	4	71115076	Missense_Mutation	SNP	C	TCGA-DB-5274-01A-01D-1468-08		71115076	120039200	19	964											
FAT4	79633	broad.mit.edu	37	4	126371851	126371851	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chr4:126371851C>T	ENST00000394329.3	+	9	9693	c.9680C>T	c.(9679-9681)gCt>gTt	p.A3227V	FAT4_ENST00000335110.5_Missense_Mutation_p.A1525V	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3227	Cadherin 31.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GGAACAAATGCTGTGATTGCG	0.428													3	130					0	0	1	0	0	T	126371851	C	T	126371851	3	4	23	1	0	0	0	0	1	0	0	0	5725	797	28	2	9714	2	FAT4	4	126371851	Missense_Mutation	SNP	C	TCGA-DB-5274-01A-01D-1468-08	55256775	126371851	64782425	20	965											
PCDH18	54510	broad.mit.edu	37	4	138442647	138442649	+	In_Frame_Del	DEL	TCT	TCT	-			TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chr4:138442647_138442649delTCT	ENST00000344876.4	-	4	3328_3330	c.2942_2944delAGA	c.(2941-2946)aagagt>agt	p.K981del	PCDH18_ENST00000412923.2_In_Frame_Del_p.K980del|PCDH18_ENST00000511115.1_In_Frame_Del_p.K161del|PCDH18_ENST00000510305.1_In_Frame_Del_p.K192del|PCDH18_ENST00000507846.1_In_Frame_Del_p.K760del	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	981	Interaction with DAB1 (By similarity).				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					GTGGAAAAACTCTTCTTCTTTTC	0.512													20	109	---	---	---	---						-	138442649	TCT	-	138442647	7	5	23	1	0	1	0	1	0	0	0	0	11560	1551	54	0	467	0	PCDH18	4	138442647	In_Frame_Del	DEL	TCT	TCGA-DB-5274-01A-01D-1468-08	12070796	138442647	52711629	21	966											
C6	729	broad.mit.edu	37	5	41149347	41149347	+	Silent	SNP	A	A	G			TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chr5:41149347A>G	ENST00000263413.3	-	17	2883	c.2619T>C	c.(2617-2619)tgT>tgC	p.C873C	C6_ENST00000337836.5_Silent_p.C873C	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	873	C5b-binding domain.|Complement control factor I module 2.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				ACTTACCTGAACATTTTTCCC	0.398													182	242					0	0	1	0	0	G	41149347	A	G	41149347	2	3	23	1	0	0	0	0	0	0	0	1	2329	41	2	3		3	C6	5	41149347	Silent	SNP	A	TCGA-DB-5274-01A-01D-1468-08		41149347	139765913	22	967											
MAST4	375449	broad.mit.edu	37	5	66441064	66441064	+	Missense_Mutation	SNP	A	A	C			TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chr5:66441064A>C	ENST00000404260.3	+	23	3268	c.2960A>C	c.(2959-2961)gAg>gCg	p.E987A	MAST4_ENST00000405643.1_Missense_Mutation_p.E805A|MAST4_ENST00000261569.7_Missense_Mutation_p.E790A|MAST4_ENST00000403666.1_Missense_Mutation_p.E795A|MAST4_ENST00000403625.2_Missense_Mutation_p.E984A			O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	987						cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		ATTTCAACAGAGGGAGAGCAA	0.512													14	23					0	0	1	0	0	C	66441064	A	C	66441064	3	2	23	1	0	0	0	0	1	0	0	0	9377	304	11	5	3171	5	MAST4	5	66441064	Missense_Mutation	SNP	A	TCGA-DB-5274-01A-01D-1468-08	25291717	66441064	114474196	23	968											
FEM1C	56929	broad.mit.edu	37	5	114860125	114860125	+	Missense_Mutation	SNP	G	G	C			TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chr5:114860125G>C	ENST00000274457.3	-	3	2295	c.1734C>G	c.(1732-1734)atC>atG	p.I578M		NM_020177.2	NP_064562.1	Q96JP0	FEM1C_HUMAN	fem-1 homolog c (C. elegans)	578						cytoplasm				breast(5)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	18		all_cancers(142;0.000575)|all_epithelial(76;9.98e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;2.5e-07)|Epithelial(69;2.66e-07)|all cancers(49;1.39e-05)		TTATAGGCTGGATTAAATTTT	0.368													69	103					0	0	1	0	0	C	114860125	G	C	114860125	3	2	23	1	0	0	0	0	1	0	0	0	5844	1164	41	5	123	5	FEM1C	5	114860125	Missense_Mutation	SNP	G	TCGA-DB-5274-01A-01D-1468-08	48419061	114860125	66055135	24	969											
TGFBI	7045	broad.mit.edu	37	5	135385198	135385198	+	Missense_Mutation	SNP	C	C	A			TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chr5:135385198C>A	ENST00000442011.2	+	7	1003	c.842C>A	c.(841-843)aCc>aAc	p.T281N	TGFBI_ENST00000305126.8_Missense_Mutation_p.T281N	NM_000358.2	NP_000349.1	Q15582	BGH3_HUMAN	transforming growth factor, beta-induced, 68kDa	281	FAS1 2.				angiogenesis|cell adhesion|cell proliferation|negative regulation of cell adhesion|response to stimulus|visual perception	extracellular space|proteinaceous extracellular matrix	integrin binding			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TTGGCCCCGACCAATGAGGCC	0.582													3	55					0.115264	0.128824	1	1	0	A	135385198	C	A	135385198	3	1	23	1	0	0	0	0	1	0	0	0	15880	507	18	5	868	5	TGFBI	5	135385198	Missense_Mutation	SNP	C	TCGA-DB-5274-01A-01D-1468-08	20525073	135385198	45530062	25	970											
ATP10B	23120	broad.mit.edu	37	5	160067534	160067534	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chr5:160067534G>A	ENST00000327245.5	-	10	1780	c.934C>T	c.(934-936)Cgc>Tgc	p.R312C		NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	312					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ATATTCATGCGCCGCTCAATC	0.473													10	260					0	0	1	0	0	A	160067534	G	A	160067534	3	1	23	1	0	0	0	0	1	0	0	0	1116	1087	38	1	3519	1	ATP10B	5	160067534	Missense_Mutation	SNP	G	TCGA-DB-5274-01A-01D-1468-08	24682336	160067534	20847726	26	971											
HLA-DQA2	3118	broad.mit.edu	37	6	32713716	32713716	+	Missense_Mutation	SNP	G	G	C	rs35633399		TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chr6:32713716G>C	ENST00000374940.3	+	3	582	c.480G>C	c.(478-480)gaG>gaC	p.E160D		NM_020056.4	NP_064440.1	P01906	DQA2_HUMAN	major histocompatibility complex, class II, DQ alpha 2	160	Alpha-2.|Ig-like C1-type.				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|endosome membrane|Golgi apparatus|integral to plasma membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity			endometrium(2)|large_intestine(3)|lung(7)|skin(1)	13					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GTGTTTCTGAGACCAGCTTCC	0.493													97	125					0	0	1	0	0	C	32713716	G	C	32713716	3	2	23	1	0	0	0	0	1	0	0	0	7246	933	33	4	490	4	HLA-DQA2	6	32713716	Missense_Mutation	SNP	G	TCGA-DB-5274-01A-01D-1468-08		32713716	138401351	27	972											
RFX6	222546	broad.mit.edu	37	6	117198501	117198501	+	Silent	SNP	C	C	T			TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chr6:117198501C>T	ENST00000332958.2	+	1	79	c.63C>T	c.(61-63)tcC>tcT	p.S21S		NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	21					glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						CCCAACTGTCCCCGGGGATCC	0.687													4	18					0	0	1	0	0	T	117198501	C	T	117198501	2	4	23	1	0	0	0	0	0	0	0	1	13319	610	22	2		2	RFX6	6	117198501	Silent	SNP	C	TCGA-DB-5274-01A-01D-1468-08	84484785	117198501	53916566	28	973											
HOXA4	3201	broad.mit.edu	37	7	27169089	27169089	+	Silent	SNP	G	G	A			TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chr7:27169089G>A	ENST00000360046.5	-	2	783	c.718C>T	c.(718-720)Ctg>Ttg	p.L240L	HOXA3_ENST00000521401.1_Intron|RP1-170O19.22_ENST00000467897.2_RNA|HOXA-AS2_ENST00000521159.1_RNA|HOXA4_ENST00000428284.2_Silent_p.L240L	NM_002141.4	NP_002132.3	Q00056	HXA4_HUMAN	homeobox A4	240						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(6)	12						CGCCGGGTCAGGTATCGATTG	0.572													40	75					0	0	1	0	0	A	27169089	G	A	27169089	2	1	23	1	0	0	0	0	0	0	0	1	7335	991	35	2		2	HOXA4	7	27169089	Silent	SNP	G	TCGA-DB-5274-01A-01D-1468-08		27169089	131969574	29	974											
PABPC1	26986	broad.mit.edu	37	8	101733783	101733784	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chr8:101733783_101733784insT	ENST00000318607.5	-	1	1156_1157	c.28_29insA	c.(28-30)atgfs	p.M10fs	PABPC1_ENST00000519004.1_Intron|PABPC1_ENST00000522387.1_Frame_Shift_Ins_p.M10fs	NM_002568.3	NP_002559.2	P11940	PABP1_HUMAN	poly(A) binding protein, cytoplasmic 1	10					mRNA polyadenylation|mRNA stabilization|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|translation	catalytic step 2 spliceosome|cytosol	nucleotide binding|poly(A) RNA binding|protein C-terminus binding|translation activator activity			breast(2)|endometrium(4)|kidney(15)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	40	all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206)			GAGCGAGGCCATGGGGTAGCTG	0.698													10	29	---	---	---	---						T	101733784	-	T	101733783	7	5	23	1	0	1	1	0	0	0	0	0	11410	217	8	0	1937	0	PABPC1	8	101733783	Frame_Shift_Ins	INS	-	TCGA-DB-5274-01A-01D-1468-08		101733783	44630239	30	975											
ENPP2	5168	broad.mit.edu	37	8	120608098	120608098	+	Missense_Mutation	SNP	G	G	T			TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chr8:120608098G>T	ENST00000259486.6	-	12	1166	c.1117C>A	c.(1117-1119)Cgt>Agt	p.R373S	ENPP2_ENST00000427067.2_Intron|ENPP2_ENST00000522826.1_Intron|ENPP2_ENST00000075322.6_Intron	NM_006209.4	NP_006200.3	Q13822	ENPP2_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 2	324					cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration	extracellular space|integral to plasma membrane	alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding	p.R373S(1)		breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			TTGTCCTGACGAGTTTCCGCA	0.458													4	249					1	1	1	1	0	T	120608098	G	T	120608098	3	4	23	1	0	0	0	0	1	0	0	0	5158	1058	37	5	1769	5	ENPP2	8	120608098	Missense_Mutation	SNP	G	TCGA-DB-5274-01A-01D-1468-08	18874315	120608098	25755924	31	976											
ACTL7B	10880	broad.mit.edu	37	9	111617665	111617665	+	Silent	SNP	C	C	T			TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chr9:111617665C>T	ENST00000374667.3	-	1	1574	c.546G>A	c.(544-546)tcG>tcA	p.S182S		NM_006686.3	NP_006677.1	Q9Y614	ACL7B_HUMAN	actin-like 7B	182						actin cytoskeleton|cytoplasm	structural constituent of cytoskeleton			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						TGGACAGCAACGACTGGGACG	0.647													6	64					0	0	1	0	0	T	111617665	C	T	111617665	2	4	23	1	0	0	0	0	0	0	0	1	201	523	19	1		1	ACTL7B	9	111617665	Silent	SNP	C	TCGA-DB-5274-01A-01D-1468-08		111617665	29595766	32	977											
ENG	2022	broad.mit.edu	37	9	130605420	130605420	+	Missense_Mutation	SNP	G	G	T			TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chr9:130605420G>T	ENST00000344849.3	-	2	452	c.172C>A	c.(172-174)Ccc>Acc	p.P58T	ENG_ENST00000373203.4_Missense_Mutation_p.P58T			P17813	EGLN_HUMAN	endoglin	58					artery morphogenesis|BMP signaling pathway|cell adhesion|cell chemotaxis|central nervous system vasculogenesis|chronological cell aging|detection of hypoxia|extracellular matrix disassembly|heart looping|negative regulation of endothelial cell proliferation|negative regulation of nitric-oxide synthase activity|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of protein autophosphorylation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|patterning of blood vessels|positive regulation of BMP signaling pathway|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of systemic arterial blood pressure|positive regulation of transcription from RNA polymerase II promoter|regulation of cell adhesion|regulation of cell proliferation|regulation of transcription, DNA-dependent|regulation of transforming growth factor beta receptor signaling pathway|smooth muscle tissue development|transforming growth factor beta receptor signaling pathway|venous blood vessel morphogenesis|wound healing	cell surface|external side of plasma membrane|extracellular space|membrane fraction	activin binding|galactose binding|glycosaminoglycan binding|protein homodimerization activity|transforming growth factor beta binding|transforming growth factor beta receptor activity|transforming growth factor beta receptor, cytoplasmic mediator activity|transmembrane receptor activity|type I transforming growth factor beta receptor binding|type II transforming growth factor beta receptor binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	17						ATGGCATTGGGGGCCTGAGCC	0.607									Juvenile Polyposis;Hereditary Hemorrhagic Telangiectasia				4	286					0.014758	0.0167404	1	1	0	T	130605420	G	T	130605420	3	4	23	1	0	0	0	0	1	0	0	0	5145	1232	43	5	1886	5	ENG	9	130605420	Missense_Mutation	SNP	G	TCGA-DB-5274-01A-01D-1468-08	18987755	130605420	10608011	33	978											
C10orf68	79741	broad.mit.edu	37	10	33134208	33134208	+	Silent	SNP	A	A	G			TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chr10:33134208A>G	ENST00000375028.3	+	13	1201	c.1131A>G	c.(1129-1131)agA>agG	p.R377R	C10orf68_ENST00000375025.4_Silent_p.R437R|C10orf68_ENST00000375030.2_Intron			Q9H943	CJ068_HUMAN	chromosome 10 open reading frame 68	373										breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(4)	29						ATACTGGAAGAGGTATAATAA	0.303													2	23					0	0	1	0	0	G	33134208	A	G	33134208	2	3	23	1	0	0	0	0	0	0	0	1	1617	319	11	3		3	C10orf68	10	33134208	Silent	SNP	A	TCGA-DB-5274-01A-01D-1468-08		33134208	102400539	34	979											
PYROXD2	84795	broad.mit.edu	37	10	100143599	100143599	+	Nonsense_Mutation	SNP	G	G	A	rs148254477		TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chr10:100143599G>A	ENST00000370575.4	-	16	1750	c.1702C>T	c.(1702-1704)Cga>Tga	p.R568*	PYROXD2_ENST00000483923.1_5'UTR	NM_032709.2	NP_116098.2	Q8N2H3	PYRD2_HUMAN	pyridine nucleotide-disulphide oxidoreductase domain 2	568							oxidoreductase activity			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	12						GCTGCATTTCGCCCAGCAGCT	0.567													25	228					0	0	1	0	0	A	100143599	G	A	100143599	4	1	23	1	0	0	0	0	0	1	0	0	12919	1095	38	1	47	1	PYROXD2	10	100143599	Nonsense_Mutation	SNP	G	TCGA-DB-5274-01A-01D-1468-08	67009391	100143599	35391148	35	980											
MRGPRX3	117195	broad.mit.edu	37	11	18158870	18158870	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chr11:18158870G>A	ENST00000396275.2	+	3	482	c.121G>A	c.(121-123)Gcg>Acg	p.A41T		NM_054031.3	NP_473372.3	Q96LB0	MRGX3_HUMAN	MAS-related GPR, member X3	41						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						TTCCCTTGTCGCGCTGACAGG	0.592													69	172					0	0	1	0	0	A	18158870	G	A	18158870	3	1	23	1	0	0	0	0	1	0	0	0	9817	1087	38	1	123	1	MRGPRX3	11	18158870	Missense_Mutation	SNP	G	TCGA-DB-5274-01A-01D-1468-08		18158870	116847646	36	981											
CD82	3732	broad.mit.edu	37	11	44621761	44621761	+	Silent	SNP	C	C	T			TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chr11:44621761C>T	ENST00000227155.4	+	4	365	c.117C>T	c.(115-117)agC>agT	p.S39S	CD82_ENST00000342935.3_Silent_p.S39S	NM_002231.3	NP_002222.1	P27701	CD82_HUMAN	CD82 molecule	39						integral to plasma membrane	protein binding			large_intestine(1)|ovary(1)	2						CCGACAAGAGCAGTTTCATCT	0.602													37	103					0	0	1	0	0	T	44621761	C	T	44621761	2	4	23	1	0	0	0	0	0	0	0	1	3062	709	25	2		2	CD82	11	44621761	Silent	SNP	C	TCGA-DB-5274-01A-01D-1468-08	26462891	44621761	90384755	37	982											
OR5L2	26338	broad.mit.edu	37	11	55594988	55594988	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chr11:55594988G>A	ENST00000378397.1	+	1	294	c.294G>A	c.(292-294)atG>atA	p.M98I		NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L, member 2	98					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				TAGGGTGCATGGTGCAATTCT	0.468										HNSCC(27;0.073)			32	244					0	0	1	0	0	A	55594988	G	A	55594988	3	1	23	1	0	0	0	0	1	0	0	0	11218	1348	47	2	296	2	OR5L2	11	55594988	Missense_Mutation	SNP	G	TCGA-DB-5274-01A-01D-1468-08	10973227	55594988	79411528	38	983											
OR5AN1	390195	broad.mit.edu	37	11	59132343	59132343	+	Missense_Mutation	SNP	T	T	C			TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chr11:59132343T>C	ENST00000313940.2	+	1	459	c.412T>C	c.(412-414)Tca>Cca	p.S138P		NM_001004729.1	NP_001004729.1	Q8NGI8	O5AN1_HUMAN	olfactory receptor, family 5, subfamily AN, member 1	138					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	21						ATCCATCATGTCACCCACCCT	0.478													8	231					0	0	1	0	0	C	59132343	T	C	59132343	3	2	23	1	0	0	0	0	1	0	0	0	11190	1667	58	3	414	3	OR5AN1	11	59132343	Missense_Mutation	SNP	T	TCGA-DB-5274-01A-01D-1468-08	3537355	59132343	75874173	39	984											
IL10RA	3587	broad.mit.edu	37	11	117869741	117869741	+	Silent	SNP	G	G	T			TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chr11:117869741G>T	ENST00000227752.3	+	7	1242	c.1122G>T	c.(1120-1122)ctG>ctT	p.L374L	IL10RA_ENST00000541785.1_Silent_p.L354L|IL10RA_ENST00000545409.1_Silent_p.L225L|IL10RA_ENST00000533700.1_3'UTR	NM_001558.3	NP_001549.2	Q13651	I10R1_HUMAN	interleukin 10 receptor, alpha	374						integral to membrane|plasma membrane	interleukin-10 receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(2)|prostate(1)	19	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.07e-05)|Epithelial(105;0.00108)		GGATCTGCCTGCAGGAGCCCA	0.627													3	28					1	1	1	1	0	T	117869741	G	T	117869741	2	4	23	1	0	0	0	0	0	0	0	1	7664	1306	46	5		5	IL10RA	11	117869741	Silent	SNP	G	TCGA-DB-5274-01A-01D-1468-08	58737398	117869741	17136775	40	985											
C11orf63	79864	broad.mit.edu	37	11	122805551	122805554	+	Frame_Shift_Del	DEL	AAAG	AAAG	-			TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chr11:122805551_122805554delAAAG	ENST00000227349.2	+	5	1699_1702	c.1402_1405delAAAG	c.(1402-1407)aaagaafs	p.KE468fs	C11orf63_ENST00000531316.1_Frame_Shift_Del_p.KE468fs	NM_024806.2	NP_079082.2	Q6NUN7	CK063_HUMAN	chromosome 11 open reading frame 63	468										breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	47		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)		GAATGTTAATAAAGAAAGAGGACA	0.377													12	199	---	---	---	---						-	122805554	AAAG	-	122805551	7	5	23	1	0	1	0	1	0	0	0	0	1659	363	13	0	1480	0	C11orf63	11	122805551	Frame_Shift_Del	DEL	AAAG	TCGA-DB-5274-01A-01D-1468-08	4935810	122805551	12200965	41	986											
ST3GAL4	6484	broad.mit.edu	37	11	126278326	126278326	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chr11:126278326G>A	ENST00000526727.1	+	7	936	c.562G>A	c.(562-564)Gtc>Atc	p.V188I	ST3GAL4_ENST00000392669.2_Missense_Mutation_p.V188I|ST3GAL4_ENST00000530591.1_Missense_Mutation_p.V184I|ST3GAL4_ENST00000356132.4_Missense_Mutation_p.V194I|ST3GAL4_ENST00000227495.6_Missense_Mutation_p.V184I|ST3GAL4_ENST00000449406.2_Missense_Mutation_p.V177I|ST3GAL4_ENST00000534083.1_Missense_Mutation_p.V188I|ST3GAL4_ENST00000532243.1_Missense_Mutation_p.V187I|ST3GAL4_ENST00000526756.1_3'UTR|ST3GAL4_ENST00000444328.2_Missense_Mutation_p.V188I|ST3GAL4_ENST00000534457.1_Missense_Mutation_p.V183I			Q11206	SIA4C_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 4	188					post-translational protein modification|protein N-linked glycosylation via asparagine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,3-sialyltransferase activity			endometrium(1)|large_intestine(2)|lung(5)|stomach(1)	9	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0739)|all_lung(97;0.0798)|all_neural(223;0.138)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0767)		CACACTCCTCGTCCTGGTAGC	0.547													31	69					0	0	1	0	0	A	126278326	G	A	126278326	3	1	23	1	0	0	0	0	1	0	0	0	15273	1145	40	1	576	1	ST3GAL4	11	126278326	Missense_Mutation	SNP	G	TCGA-DB-5274-01A-01D-1468-08	3472775	126278326	8728190	42	987											
C12orf36	283422	broad.mit.edu	37	12	13529264	13529264	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chr12:13529264G>A	ENST00000318426.2	-	2	293	c.76C>T	c.(76-78)Cct>Tct	p.P26S	C12orf36_ENST00000532841.1_Missense_Mutation_p.P26S|C12orf36_ENST00000539026.1_Missense_Mutation_p.P26S|C12orf36_ENST00000527705.2_Missense_Mutation_p.P26S|C12orf36_ENST00000531049.1_5'UTR					chromosome 12 open reading frame 36											lung(3)|skin(3)	6				BRCA - Breast invasive adenocarcinoma(232;0.198)		tcttcatcaggaacacacaga	0.463													4	35					0	0	1	0	0	A	13529264	G	A	13529264	3	1	23	1	0	0	0	0	1	0	0	0	1689	1174	41	2	348	2	C12orf36	12	13529264	Missense_Mutation	SNP	G	TCGA-DB-5274-01A-01D-1468-08		13529264	120322631	43	988											
ZBTB39	9880	broad.mit.edu	37	12	57397618	57397618	+	Missense_Mutation	SNP	G	G	T			TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chr12:57397618G>T	ENST00000300101.2	-	2	1169	c.1084C>A	c.(1084-1086)Cat>Aat	p.H362N		NM_014830.2	NP_055645.1	O15060	ZBT39_HUMAN	zinc finger and BTB domain containing 39	362					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|prostate(1)	16						TCCCGAGCATGCTGCCGGATC	0.547													4	172					1	1	1	1	0	T	57397618	G	T	57397618	3	4	23	1	0	0	0	0	1	0	0	0	17599	1319	46	5	1058	5	ZBTB39	12	57397618	Missense_Mutation	SNP	G	TCGA-DB-5274-01A-01D-1468-08	43868354	57397618	76454277	44	989											
POLR3B	55703	broad.mit.edu	37	12	106850924	106850924	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chr12:106850924C>T	ENST00000228347.4	+	21	2524	c.2302C>T	c.(2302-2304)Cgt>Tgt	p.R768C	POLR3B_ENST00000539066.1_Missense_Mutation_p.R710C	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN	polymerase (RNA) III (DNA directed) polypeptide B	768					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding	p.R768C(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						AGGCTTTGGGCGTTGCCTTGT	0.408													39	96					0	0	1	0	0	T	106850924	C	T	106850924	3	4	23	1	0	0	0	0	1	0	0	0	12277	768	27	1	2384	1	POLR3B	12	106850924	Missense_Mutation	SNP	C	TCGA-DB-5274-01A-01D-1468-08	49453306	106850924	27000971	45	990											
TMEM132B	114795	broad.mit.edu	37	12	125834834	125834834	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chr12:125834834G>A	ENST00000299308.3	+	2	897	c.889G>A	c.(889-891)Gcc>Acc	p.A297T		NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	297						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		AGGGGACACGGCCACCTTTTT	0.532													16	343					0	0	1	0	0	A	125834834	G	A	125834834	3	1	23	1	0	0	0	0	1	0	0	0	16106	1203	42	2	895	2	TMEM132B	12	125834834	Missense_Mutation	SNP	G	TCGA-DB-5274-01A-01D-1468-08	18983910	125834834	8017061	46	991											
FARP1	10160	broad.mit.edu	37	13	99083304	99083304	+	Missense_Mutation	SNP	C	C	T	rs61730891	byFrequency	TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chr13:99083304C>T	ENST00000376586.2	+	18	2249	c.1913C>T	c.(1912-1914)gCg>gTg	p.A638V	FARP1_ENST00000595437.1_Missense_Mutation_p.A638V|FARP1_ENST00000319562.6_Missense_Mutation_p.A638V			Q9Y4F1	FARP1_HUMAN	FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)	638	DH.				regulation of Rho protein signal transduction	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity			breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			AAGCACCTGGCGGCTCACCTG	0.587													5	112					0	0	1	0	0	T	99083304	C	T	99083304	3	4	23	1	0	0	0	0	1	0	0	0	5709	768	27	1	2202	1	FARP1	13	99083304	Missense_Mutation	SNP	C	TCGA-DB-5274-01A-01D-1468-08		99083304	16086574	47	992											
MCF2L	23263	broad.mit.edu	37	13	113699625	113699625	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chr13:113699625C>T	ENST00000397030.1	+	4	455	c.418C>T	c.(418-420)Cgg>Tgg	p.R140W	MCF2L_ENST00000421756.1_Missense_Mutation_p.R111W|MCF2L_ENST00000423482.2_Missense_Mutation_p.R105W|MCF2L_ENST00000375597.4_Missense_Mutation_p.R105W|MCF2L_ENST00000397021.1_Missense_Mutation_p.R69W|MCF2L_ENST00000442652.2_Missense_Mutation_p.R137W|MCF2L_ENST00000480321.1_3'UTR|MCF2L_ENST00000375604.2_Missense_Mutation_p.R164W|MCF2L_ENST00000434480.2_Missense_Mutation_p.R113W|MCF2L_ENST00000375608.3_Missense_Mutation_p.R137W|MCF2L_ENST00000535094.2_Missense_Mutation_p.R107W|MCF2L_ENST00000375601.3_Missense_Mutation_p.R111W			O15068	MCF2L_HUMAN	MCF.2 cell line derived transforming sequence-like	137	CRAL-TRIO.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	Rho guanyl-nucleotide exchange factor activity			kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)				GGTGATAGACCGGCGACGGGA	0.667													5	90					0	0	1	0	0	T	113699625	C	T	113699625	3	4	23	1	0	0	0	0	1	0	0	0	9429	643	23	1	599	1	MCF2L	13	113699625	Missense_Mutation	SNP	C	TCGA-DB-5274-01A-01D-1468-08	14616321	113699625	1470253	48	993											
NKX2-1	7080	broad.mit.edu	37	14	36987093	36987093	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chr14:36987093G>T	ENST00000518149.1	-	3	1111	c.506C>A	c.(505-507)tCg>tAg	p.S169*	NKX2-1_ENST00000522719.2_Nonsense_Mutation_p.S169*|NKX2-1_ENST00000498187.2_Nonsense_Mutation_p.S169*|NKX2-1_ENST00000354822.5_Nonsense_Mutation_p.S199*|RP11-896J10.3_ENST00000521945.1_RNA			P43699	NKX21_HUMAN	NK2 homeobox 1	169					epithelial tube branching involved in lung morphogenesis|globus pallidus development|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|thyroid gland development		protein binding|transcription regulatory region DNA binding			large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(2)	7	all_cancers(3;4.47e-51)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)|Breast(36;0.165)		Lung(8;1.8e-08)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.014)|all cancers(34;0.0366)|LUSC - Lung squamous cell carcinoma(13;0.132)	GBM - Glioblastoma multiforme(112;0.0171)		CTGCGCCTGCGAGAAGAGCAC	0.682			A		NSCLC								3	19					1	1	1	1	0	T	36987093	G	T	36987093	4	4	23	1	0	0	0	0	0	1	0	0	10496	1059	37	5	613	5	NKX2-1	14	36987093	Nonsense_Mutation	SNP	G	TCGA-DB-5274-01A-01D-1468-08		36987093	70362447	49	994											
SLC38A6	145389	broad.mit.edu	37	14	61451520	61451520	+	Splice_Site	SNP	A	A	G			TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chr14:61451520A>G	ENST00000354886.2	+	3	473	c.309A>G	c.(307-309)acA>acG	p.T103T	SLC38A6_ENST00000267488.4_Splice_Site_p.T103T|SLC38A6_ENST00000554304.1_3'UTR|SLC38A6_ENST00000456840.2_Splice_Site_p.T80T	NM_001172702.1	NP_001166173.1	Q8IZM9	S38A6_HUMAN	solute carrier family 38, member 6	103					amino acid transport|sodium ion transport	integral to membrane				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(108;0.0981)		GTATTCAGACAGGTGAGTAAA	0.378													13	175					0	0	1	0	0	G	61451520	A	G	61451520	5	3	23	1	0	0	0	0	0	0	1	0	14663	202	7	3	319	3	SLC38A6	14	61451520	Splice_Site	SNP	A	TCGA-DB-5274-01A-01D-1468-08	24464427	61451520	45898020	50	995											
ESR2	2100	broad.mit.edu	37	14	64699865	64699866	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chr14:64699865_64699866delTG	ENST00000341099.4	-	9	1999_2000	c.1582_1583delCA	c.(1582-1584)cagfs	p.Q528fs	ESR2_ENST00000554572.1_Intron|ESR2_ENST00000542956.1_Intron|ESR2_ENST00000555483.1_5'UTR|ESR2_ENST00000267525.6_Frame_Shift_Del_p.Q437fs|ESR2_ENST00000358599.5_Intron|ESR2_ENST00000553796.1_Intron|ESR2_ENST00000557772.1_3'UTR|ESR2_ENST00000357782.2_Intron|ESR2_ENST00000353772.3_Intron|ESR2_ENST00000555278.1_Intron	NM_001437.2	NP_001428.1	Q92731	ESR2_HUMAN	estrogen receptor 2 (ER beta)	528	Steroid-binding.				cell-cell signaling|negative regulation of cell growth|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	mitochondrion|nucleoplasm	enzyme binding|estrogen receptor activity|receptor antagonist activity|sequence-specific DNA binding transcription factor activity|steroid binding|transcription coactivator activity|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	23				all cancers(60;0.00916)|OV - Ovarian serous cystadenocarcinoma(108;0.0111)|BRCA - Breast invasive adenocarcinoma(234;0.0437)	Bicalutamide(DB01128)|Estradiol(DB00783)|Estramustine(DB01196)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Trilostane(DB01108)	TCACTGAGACTGTGGGTTCTGG	0.604													17	88	---	---	---	---						-	64699866	TG	-	64699865	7	5	23	1	0	1	0	1	0	0	0	0	5285	1580	55	0	99	0	ESR2	14	64699865	Frame_Shift_Del	DEL	TG	TCGA-DB-5274-01A-01D-1468-08	3248345	64699865	42649675	51	996											
STON2	85439	broad.mit.edu	37	14	81744248	81744248	+	Missense_Mutation	SNP	T	T	G			TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chr14:81744248T>G	ENST00000555447.1	-	6	1819	c.1407A>C	c.(1405-1407)aaA>aaC	p.K469N	STON2_ENST00000267540.2_Missense_Mutation_p.K469N	NM_001256430.1	NP_001243359.1	Q8WXE9	STON2_HUMAN	stonin 2	469	SHD.				endocytosis|intracellular protein transport|regulation of endocytosis	clathrin adaptor complex|nucleolus	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5)	34				BRCA - Breast invasive adenocarcinoma(234;0.0348)		CACGGAATGGTTTTTCTAGGC	0.478													12	290					0	0	1	0	0	G	81744248	T	G	81744248	3	3	23	1	0	0	0	0	1	0	0	0	15374	1722	60	5	1316	5	STON2	14	81744248	Missense_Mutation	SNP	T	TCGA-DB-5274-01A-01D-1468-08	17044383	81744248	25605292	52	997											
ATG2B	55102	broad.mit.edu	37	14	96757939	96757939	+	Silent	SNP	A	A	G			TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chr14:96757939A>G	ENST00000359933.4	-	38	6470	c.5577T>C	c.(5575-5577)caT>caC	p.H1859H	ATG2B_ENST00000261834.5_5'UTR	NM_018036.5	NP_060506	Q96BY7	ATG2B_HUMAN	autophagy related 2B	1859										breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		TCACTTACCCATGTCGATAGG	0.348													18	157					0	0	1	0	0	G	96757939	A	G	96757939	2	3	23	1	0	0	0	0	0	0	0	1	1093	214	8	3		3	ATG2B	14	96757939	Silent	SNP	A	TCGA-DB-5274-01A-01D-1468-08	15013691	96757939	10591601	53	998											
SH3GL3	6457	broad.mit.edu	37	15	84286924	84286924	+	Missense_Mutation	SNP	A	A	G			TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chr15:84286924A>G	ENST00000324537.5	+	12	1445	c.953A>G	c.(952-954)gAc>gGc	p.D318G	SH3GL3_ENST00000564054.1_3'UTR|SH3GL3_ENST00000427482.2_Missense_Mutation_p.D310G|SH3GL3_ENST00000434347.1_Missense_Mutation_p.D318G|SH3GL3_ENST00000535412.1_3'UTR			Q99963	SH3G3_HUMAN	SH3-domain GRB2-like 3	310	SH3.				central nervous system development|endocytosis|signal transduction	early endosome membrane	identical protein binding|lipid binding			central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30						AAAGAAGGGGACATCATTACA	0.423													10	66					0	0	1	0	0	G	84286924	A	G	84286924	3	3	23	1	0	0	0	0	1	0	0	0	14307	275	10	3	963	3	SH3GL3	15	84286924	Missense_Mutation	SNP	A	TCGA-DB-5274-01A-01D-1468-08		84286924	18244468	54	999											
SEC14L5	9717	broad.mit.edu	37	16	5061202	5061202	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chr16:5061202C>T	ENST00000251170.7	+	15	2087	c.1907C>T	c.(1906-1908)aCg>aTg	p.T636M	RP11-165E7.1_ENST00000588778.1_RNA	NM_014692.1	NP_055507.1	O43304	S14L5_HUMAN	SEC14-like 5 (S. cerevisiae)	636	GOLD.					integral to membrane|intracellular	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|skin(1)	29						GATGTCCTGACGGCTCTGCAC	0.662													20	35					0	0	1	0	0	T	5061202	C	T	5061202	3	4	23	1	0	0	0	0	1	0	0	0	14039	536	19	1	1961	1	SEC14L5	16	5061202	Missense_Mutation	SNP	C	TCGA-DB-5274-01A-01D-1468-08		5061202	85293551	55	1000											
PDXDC1	23042	broad.mit.edu	37	16	15110003	15110003	+	Missense_Mutation	SNP	C	C	A			TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chr16:15110003C>A	ENST00000396410.4	+	9	842	c.745C>A	c.(745-747)Cac>Aac	p.H249N	PDXDC1_ENST00000563679.1_Missense_Mutation_p.H267N|PDXDC1_ENST00000325823.7_Missense_Mutation_p.H234N|PDXDC1_ENST00000569715.1_Missense_Mutation_p.H222N|PDXDC1_ENST00000450288.2_Missense_Mutation_p.H221N|PDXDC1_ENST00000447912.2_Missense_Mutation_p.H158N|PDXDC1_ENST00000535621.2_Missense_Mutation_p.H249N|PDXDC1_ENST00000455313.2_Missense_Mutation_p.H226N	NM_015027.2	NP_055842.2	Q6P996	PDXD1_HUMAN	pyridoxal-dependent decarboxylase domain containing 1	249					carboxylic acid metabolic process		carboxy-lyase activity|protein binding|pyridoxal phosphate binding			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(10)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					Pyridoxal Phosphate(DB00114)	AGCAGTAGGACACACAGACAA	0.448													3	80					0.150653	0.165937	1	1	0	A	15110003	C	A	15110003	3	1	23	1	0	0	0	0	1	0	0	0	11743	478	17	5	779	5	PDXDC1	16	15110003	Missense_Mutation	SNP	C	TCGA-DB-5274-01A-01D-1468-08	10048801	15110003	75244750	56	1001											
SCN4A	6329	broad.mit.edu	37	17	62018859	62018859	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chr17:62018859C>T	ENST00000578147.1	-	24	4859	c.4783G>A	c.(4783-4785)Gcc>Acc	p.A1595T	SCN4A_ENST00000435607.1_Missense_Mutation_p.A1595T			P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	1595					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	AGGATGATGGCGATGTACATG	0.517													3	77					0	0	1	0	0	T	62018859	C	T	62018859	3	4	23	1	0	0	0	0	1	0	0	0	13974	768	27	1	731	1	SCN4A	17	62018859	Missense_Mutation	SNP	C	TCGA-DB-5274-01A-01D-1468-08		62018859	19176351	57	1002											
ABCA8	10351	broad.mit.edu	37	17	66887644	66887645	+	Frame_Shift_Ins	INS	-	-	G			TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chr17:66887644_66887645insG	ENST00000269080.2	-	22	3146_3147	c.3009_3010insC	c.(3007-3012)agcatcfs	p.I1004fs	ABCA8_ENST00000586539.1_Frame_Shift_Ins_p.I1044fs|ABCA8_ENST00000430352.2_Frame_Shift_Ins_p.I1044fs	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	1004						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					TAATCATCGATGCTGCTCATGG	0.347													26	59	---	---	---	---						G	66887645	-	G	66887644	7	5	23	1	0	1	1	0	0	0	0	0	38	1464	51	0	1803	0	ABCA8	17	66887644	Frame_Shift_Ins	INS	-	TCGA-DB-5274-01A-01D-1468-08	4868785	66887644	14307566	58	1003											
CIC	23152	broad.mit.edu	37	19	42795593	42795594	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chr19:42795593_42795594delTG	ENST00000572681.2	+	11	5468_5469	c.5400_5401delTG	c.(5398-5403)tctgtafs	p.V1801fs	CIC_ENST00000575354.2_Frame_Shift_Del_p.V892fs|CIC_ENST00000160740.3_Frame_Shift_Del_p.V892fs			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	892					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				TCCTGCAGTCTGTACCCTCCGC	0.624			"Mis, F, S"		oligodendroglioma								7	64	---	---	---	---						-	42795594	TG	-	42795593	7	5	23	1	0	1	0	1	0	0	0	0	3446	1567	55	0	2711	0	CIC	19	42795593	Frame_Shift_Del	DEL	TG	TCGA-DB-5274-01A-01D-1468-08		42795593	16333390	59	1004											
NLRP13	126204	broad.mit.edu	37	19	56422063	56422063	+	Missense_Mutation	SNP	G	G	C	rs144412914	by1000genomes	TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chr19:56422063G>C	ENST00000588751.1	-	6	2172	c.2148C>G	c.(2146-2148)aaC>aaG	p.N716K	NLRP13_ENST00000342929.3_Missense_Mutation_p.N716K			Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	716							ATP binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		AGCAAATGCTGTTCCATGCGT	0.458													41	39					0	0	1	0	0	C	56422063	G	C	56422063	3	2	23	1	0	0	0	0	1	0	0	0	10522	1368	48	5	1005	5	NLRP13	19	56422063	Missense_Mutation	SNP	G	TCGA-DB-5274-01A-01D-1468-08	13626470	56422063	2706920	60	1005											
ZNF334	55713	broad.mit.edu	37	20	45130734	45130736	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chr20:45130734_45130736delAAG	ENST00000457685.2	-	6	2451_2453	c.1128_1130delCTT	c.(1126-1131)ttcttt>ttt	p.376_377FF>F	ZNF334_ENST00000593880.1_In_Frame_Del_p.437_438FF>F|ZNF334_ENST00000347606.4_In_Frame_Del_p.414_415FF>F			Q9HCZ1	ZN334_HUMAN	zinc finger protein 334	414					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)				AGATTGACAAAAGAAGGTTTTCT	0.424													41	158	---	---	---	---						-	45130736	AAG	-	45130734	7	5	23	1	0	1	0	1	0	0	0	0	17908	14	1	0	802	0	ZNF334	20	45130734	In_Frame_Del	DEL	AAG	TCGA-DB-5274-01A-01D-1468-08		45130734	17894786	61	1006											
PREX1	57580	broad.mit.edu	37	20	47305216	47305216	+	Missense_Mutation	SNP	A	A	G			TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chr20:47305216A>G	ENST00000396220.1	-	10	1335	c.1313T>C	c.(1312-1314)gTc>gCc	p.V438A	PREX1_ENST00000371941.3_Missense_Mutation_p.V438A			Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	438	DEP 1.				actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			GCACTTGGGGACAGTGCTCAG	0.562													9	88					0	0	1	0	0	G	47305216	A	G	47305216	3	3	23	1	0	0	0	0	1	0	0	0	12528	275	10	3	3790	3	PREX1	20	47305216	Missense_Mutation	SNP	A	TCGA-DB-5274-01A-01D-1468-08	2174482	47305216	15720304	62	1007											
MXRA5	25878	broad.mit.edu	37	X	3228182	3228182	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chrX:3228182C>T	ENST00000217939.6	-	7	8216	c.8062G>A	c.(8062-8064)Gtt>Att	p.V2688I		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2688	Ig-like C2-type 11.					extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				AGAAGAGAAACGCGTCCCAGG	0.627													48	74					0	0	1	0	0	T	3228182	C	T	3228182	3	4	23	1	0	0	0	0	1	0	0	0	10051	536	19	1	428	1	MXRA5	23	3228182	Missense_Mutation	SNP	C	TCGA-DB-5274-01A-01D-1468-08		3228182	152042378	63	1008											
TLR7	51284	broad.mit.edu	37	X	12906720	12906720	+	Silent	SNP	C	C	T			TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chrX:12906720C>T	ENST00000380659.3	+	3	3232	c.3093C>T	c.(3091-3093)aaC>aaT	p.N1031N		NM_016562.3	NP_057646.1	Q9NYK1	TLR7_HUMAN	toll-like receptor 7	1031	TIR.				cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus	early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane	double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity			NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44					Imiquimod(DB00724)	GTCTAAAGAACGCCCTGGCCA	0.517													77	161					0	0	1	0	0	T	12906720	C	T	12906720	2	4	23	1	0	0	0	0	0	0	0	1	16016	535	19	1		1	TLR7	23	12906720	Silent	SNP	C	TCGA-DB-5274-01A-01D-1468-08	9678538	12906720	142363840	64	1009											
REPS2	9185	broad.mit.edu	37	X	17073015	17073015	+	Silent	SNP	C	C	T			TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chrX:17073015C>T	ENST00000357277.3	+	8	1227	c.1056C>T	c.(1054-1056)aaC>aaT	p.N352N	REPS2_ENST00000303843.7_Silent_p.N351N|REPS2_ENST00000380064.4_Silent_p.N212N	NM_001080975.1|NM_004726.2	NP_001074444.1|NP_004717.2	Q8NFH8	REPS2_HUMAN	RALBP1 associated Eps domain containing 2	352	EH 2.				epidermal growth factor receptor signaling pathway|protein complex assembly	cytoplasm	calcium ion binding|protein binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(2)|skin(3)|urinary_tract(1)	17	Hepatocellular(33;0.183)					CTCGGAAGAACGGCTACCCAT	0.512													20	53					0	0	1	0	0	T	17073015	C	T	17073015	2	4	23	1	0	0	0	0	0	0	0	1	13281	535	19	1		1	REPS2	23	17073015	Silent	SNP	C	TCGA-DB-5274-01A-01D-1468-08	4166295	17073015	138197545	65	1010											
PTCHD1	139411	broad.mit.edu	37	X	23353202	23353202	+	Silent	SNP	T	T	G			TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chrX:23353202T>G	ENST00000379361.4	+	1	1070	c.210T>G	c.(208-210)gtT>gtG	p.V70V		NM_173495.2	NP_775766.2	Q96NR3	PTHD1_HUMAN	patched domain containing 1	70					cognition|smoothened signaling pathway	integral to membrane|plasma membrane	hedgehog receptor activity			NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2)	42						GCAACCTCGTTAACAGCCTCT	0.657													4	68					0	0	1	0	0	G	23353202	T	G	23353202	2	3	23	1	0	0	0	0	0	0	0	1	12781	1741	61	5		5	PTCHD1	23	23353202	Silent	SNP	T	TCGA-DB-5274-01A-01D-1468-08	6280187	23353202	131917358	66	1011											
ZNF41	7592	broad.mit.edu	37	X	47307606	47307606	+	Missense_Mutation	SNP	T	T	G			TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chrX:47307606T>G	ENST00000377065.4	-	5	2202	c.1563A>C	c.(1561-1563)aaA>aaC	p.K521N	ZNF41_ENST00000397050.2_Missense_Mutation_p.K531N|ZNF41_ENST00000313116.7_Missense_Mutation_p.K521N	NM_153380.2	NP_700359.1	P51814	ZNF41_HUMAN	zinc finger protein 41	563						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|upper_aerodigestive_tract(2)	24		all_lung(315;0.000129)				ACATATAGGGTTTTTCCCCAG	0.418													22	193					0	0	1	0	0	G	47307606	T	G	47307606	3	3	23	1	0	0	0	0	1	0	0	0	17946	1722	60	5	780	5	ZNF41	23	47307606	Missense_Mutation	SNP	T	TCGA-DB-5274-01A-01D-1468-08	23954404	47307606	107962954	67	1012											
OGT	8473	broad.mit.edu	37	X	70756047	70756050	+	Frame_Shift_Del	DEL	TTCC	TTCC	-			TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chrX:70756047_70756050delTTCC	ENST00000373719.3	+	2	274_277	c.57_60delTTCC	c.(55-60)ctttccfs	p.LS19fs	OGT_ENST00000373701.3_Intron|OGT_ENST00000498566.1_3'UTR	NM_181672.2|NM_181673.2	NP_858058.1|NP_858059.1	O15294	OGT1_HUMAN	O-linked N-acetylglucosamine (GlcNAc) transferase	19					cellular response to retinoic acid|positive regulation of granulocyte differentiation|positive regulation of histone H3-K4 methylation|positive regulation of proteolysis|protein O-linked glycosylation|signal transduction	cytosol|MLL5-L complex	enzyme activator activity|protein binding|protein N-acetylglucosaminyltransferase activity			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Renal(35;0.156)					AACGTATGCTTTCCTTCCAAGGGT	0.426													44	87	---	---	---	---						-	70756050	TTCC	-	70756047	7	5	23	1	0	1	0	1	0	0	0	0	10895	1828	64	0	63	0	OGT	23	70756047	Frame_Shift_Del	DEL	TTCC	TCGA-DB-5274-01A-01D-1468-08	23448441	70756047	84514513	68	1013											
GLUD2	2747	broad.mit.edu	37	X	120181766	120181766	+	Silent	SNP	C	C	T			TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chrX:120181766C>T	ENST00000328078.1	+	1	305	c.228C>T	c.(226-228)cgC>cgT	p.R76R		NM_012084.3	NP_036216.2	P49448	DHE4_HUMAN	glutamate dehydrogenase 2	76					glutamate biosynthetic process|glutamate catabolic process	mitochondrial matrix	ADP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|leucine binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|urinary_tract(1)	38					L-Glutamic Acid(DB00142)|NADH(DB00157)	TCTTCGATCGCGGCGCCAGCA	0.647													13	129					0	0	1	0	0	T	120181766	C	T	120181766	2	4	23	1	0	0	0	0	0	0	0	1	6519	755	27	1		1	GLUD2	23	120181766	Silent	SNP	C	TCGA-DB-5274-01A-01D-1468-08	49425719	120181766	35088794	69	1014											
GRIA3	2892	broad.mit.edu	37	X	122561827	122561827	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chrX:122561827G>A	ENST00000264357.5	+	12	2205	c.1913G>A	c.(1912-1914)tGg>tAg	p.W638*	GRIA3_ENST00000542149.1_Nonsense_Mutation_p.W638*|GRIA3_ENST00000371251.1_Nonsense_Mutation_p.W638*|GRIA3_ENST00000371256.5_Nonsense_Mutation_p.W638*	NM_000828.4	NP_000819	P42263	GRIA3_HUMAN	glutamate receptor, ionotropic, AMPA 3	638					glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					L-Glutamic Acid(DB00142)	GGGGTTTGGTGGTTCTTCACC	0.443													16	306					0	0	1	0	0	A	122561827	G	A	122561827	4	1	23	1	0	0	0	0	0	1	0	0	6810	1357	47	2	1959	2	GRIA3	23	122561827	Nonsense_Mutation	SNP	G	TCGA-DB-5274-01A-01D-1468-08	2380061	122561827	32708733	70	1015											
MAGEC1	9947	broad.mit.edu	37	X	140996036	140996036	+	Missense_Mutation	SNP	T	T	C			TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chrX:140996036T>C	ENST00000285879.4	+	4	3132	c.2846T>C	c.(2845-2847)aTc>aCc	p.I949T	MAGEC1_ENST00000406005.2_Missense_Mutation_p.I16T	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	949	MAGE.						protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TTTCCTGTGATCTTCAGGAAA	0.463										HNSCC(15;0.026)			11	291					0	0	1	0	0	C	140996036	T	C	140996036	3	2	23	1	0	0	0	0	1	0	0	0	9230	1435	50	3	2852	3	MAGEC1	23	140996036	Missense_Mutation	SNP	T	TCGA-DB-5274-01A-01D-1468-08	18434209	140996036	14274524	71	1016											
SLITRK4	139065	broad.mit.edu	37	X	142717275	142717275	+	Silent	SNP	G	G	A			TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chrX:142717275G>A	ENST00000381779.4	-	2	1875	c.1650C>T	c.(1648-1650)agC>agT	p.S550S	SLITRK4_ENST00000356928.1_Silent_p.S550S|SLITRK4_ENST00000338017.4_Silent_p.S550S	NM_001184749.2|NM_001184750.1|NM_173078.4	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	550	LRRCT 2.					integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					CAATCCCGTCGCTCAACTTCT	0.438													82	152					0	0	1	0	0	A	142717275	G	A	142717275	2	1	23	1	0	0	0	0	0	0	0	1	14799	1078	38	1		1	SLITRK4	23	142717275	Silent	SNP	G	TCGA-DB-5274-01A-01D-1468-08	1721239	142717275	12553285	72	1017											
BGN	633	broad.mit.edu	37	X	152770259	152770259	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chrX:152770259C>T	ENST00000331595.4	+	2	356	c.170C>T	c.(169-171)cCc>cTc	p.P57L	BGN_ENST00000480756.1_3'UTR	NM_001711.4	NP_001702.1	P21810	PGS1_HUMAN	biglycan	57						proteinaceous extracellular matrix|transport vesicle	extracellular matrix structural constituent			breast(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)	16	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TCTGTCACACCCACCTACAGC	0.622													79	98					0	0	1	0	0	T	152770259	C	T	152770259	3	4	23	1	0	0	0	0	1	0	0	0	1417	623	22	2	172	2	BGN	23	152770259	Missense_Mutation	SNP	C	TCGA-DB-5274-01A-01D-1468-08	10052984	152770259	2500301	73	1018											
MTHFR	4524	broad.mit.edu	37	1	11854817	11854817	+	Missense_Mutation	SNP	G	G	T			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr1:11854817G>T	ENST00000376592.1	-	6	1263	c.1135C>A	c.(1135-1137)Cag>Aag	p.Q379K	MTHFR_ENST00000376590.3_Missense_Mutation_p.Q379K|MTHFR_ENST00000376585.1_Missense_Mutation_p.Q420K|MTHFR_ENST00000376583.3_Missense_Mutation_p.Q420K			P42898	MTHR_HUMAN	methylenetetrahydrofolate reductase (NAD(P)H)	379					blood circulation|folic acid metabolic process	cytosol	methylenetetrahydrofolate reductase (NADPH) activity|protein binding			NS(4)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	Benazepril(DB00542)|Cyanocobalamin(DB00115)|Folic Acid(DB00158)|L-Methionine(DB00134)|Menadione(DB00170)|Methotrexate(DB00563)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|Raltitrexed(DB00293)|Riboflavin(DB00140)|S-Adenosylmethionine(DB00118)|Tetrahydrofolic acid(DB00116)	TCCCACTCCTGGGTACGGTAG	0.582													11	174					1.58986e-06	2.01383e-06	0.361761	1	0	T	11854817	G	T	11854817	3	4	24	1	0	0	0	0	1	0	0	0	9979	1357	47	5	859	5	MTHFR	1	11854817	Missense_Mutation	SNP	G	TCGA-DB-5275-01A-01D-1468-08		11854817	237395804	1	1019											
ARID1A	8289	broad.mit.edu	37	1	27100207	27100207	+	Splice_Site	SNP	C	C	T			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr1:27100207C>T	ENST00000324856.7	+	16	4374	c.4003C>T	c.(4003-4005)Cga>Tga	p.R1335*	ARID1A_ENST00000374152.2_Splice_Site_p.R952*|ARID1A_ENST00000540690.1_5'UTR|ARID1A_ENST00000457599.2_Splice_Site_p.R1335*	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1335	Gln-rich.				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	p.R1335*(2)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		gcagcagcaACGGTGAGTAAA	0.577			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"								10	52					0	0	0.361761	0	0	T	27100207	C	T	27100207	5	4	24	1	0	0	0	0	0	0	1	0	910	550	19	1	4065	1	ARID1A	1	27100207	Splice_Site	SNP	C	TCGA-DB-5275-01A-01D-1468-08	15245390	27100207	222150414	2	1020											
PHC2	1912	broad.mit.edu	37	1	33797964	33797966	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr1:33797964_33797966delCTT	ENST00000257118.5	-	10	1851_1853	c.1798_1800delAAG	c.(1798-1800)aagdel	p.K600del	PHC2_ENST00000431992.1_In_Frame_Del_p.K571del|PHC2_ENST00000485928.1_5'UTR|PHC2_ENST00000373422.3_In_Frame_Del_p.K206del|PHC2_ENST00000373416.1_In_Frame_Del_p.K65del|PHC2_ENST00000419414.2_In_Frame_Del_p.K601del|PHC2_ENST00000373418.3_In_Frame_Del_p.K65del	NM_198040.2	NP_932157.1	Q8IXK0	PHC2_HUMAN	polyhomeotic homolog 2 (Drosophila)	600					multicellular organismal development	PcG protein complex	DNA binding|identical protein binding|zinc ion binding			autonomic_ganglia(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				CCTGTGCATACTTCTTCTTGAGA	0.581													129	259	---	---	---	---						-	33797966	CTT	-	33797964	7	5	24	1	0	1	0	1	0	0	0	0	11865	564	20	0	796	0	PHC2	1	33797964	In_Frame_Del	DEL	CTT	TCGA-DB-5275-01A-01D-1468-08	6697757	33797964	215452657	3	1021											
USP21	27005	broad.mit.edu	37	1	161132502	161132504	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr1:161132502_161132504delCTT	ENST00000368002.3	+	6	1256_1258	c.879_881delCTT	c.(877-882)tccttc>tcc	p.F294del	USP21_ENST00000368001.1_In_Frame_Del_p.F294del|USP21_ENST00000289865.8_In_Frame_Del_p.F294del	NM_001014443.2	NP_001014443.1	Q9UK80	UBP21_HUMAN	ubiquitin specific peptidase 21	294					histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	nucleus	metal ion binding|NEDD8-specific protease activity|protein binding|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|prostate(3)	29	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			ATGTTCCCTCCTTCTCTGGATAC	0.557													10	84	---	---	---	---						-	161132504	CTT	-	161132502	7	5	24	1	0	1	0	1	0	0	0	0	17113	668	24	0	893	0	USP21	1	161132502	In_Frame_Del	DEL	CTT	TCGA-DB-5275-01A-01D-1468-08	127334538	161132502	88118119	4	1022											
DUSP27	92235	broad.mit.edu	37	1	167097454	167097454	+	Missense_Mutation	SNP	C	C	A			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr1:167097454C>A	ENST00000361200.2	+	6	3252	c.3086C>A	c.(3085-3087)aCc>aAc	p.T1029N	DUSP27_ENST00000443333.1_Missense_Mutation_p.T1029N|DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000271385.5_Missense_Mutation_p.T1029N			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	1029	Ser-rich.				protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						TACAACGAGACCTCAAGTTCC	0.562													32	66					1.62565e-12	2.13016e-12	0.760397	1	0	A	167097454	C	A	167097454	3	1	24	1	0	0	0	0	1	0	0	0	4850	507	18	5	3104	5	DUSP27	1	167097454	Missense_Mutation	SNP	C	TCGA-DB-5275-01A-01D-1468-08	5964952	167097454	82153167	5	1023											
KIFAP3	22920	broad.mit.edu	37	1	170003639	170003639	+	Splice_Site	SNP	T	T	A			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr1:170003639T>A	ENST00000367765.1	-	7	1999		c.e7-2		KIFAP3_ENST00000361580.2_Splice_Site|KIFAP3_ENST00000538366.1_Splice_Site|KIFAP3_ENST00000367767.1_Splice_Site	NM_001204517.1	NP_001191446.1	Q92845	KIFA3_HUMAN	kinesin-associated protein 3						blood coagulation|plus-end-directed vesicle transport along microtubule|protein complex assembly|signal transduction	centrosome|condensed nuclear chromosome|cytosol|endoplasmic reticulum|kinesin II complex|spindle microtubule	kinesin binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|prostate(2)|skin(3)|urinary_tract(2)	35	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TGAGAAAAGCTTTAAAGAAGA	0.284													29	38					0	0	0.760397	0	0	A	170003639	T	A	170003639	5	1	24	1	0	0	0	0	0	0	1	0	8353	1623	56	5	1818	5	KIFAP3	1	170003639	Splice_Site	SNP	T	TCGA-DB-5275-01A-01D-1468-08	2906185	170003639	79246982	6	1024											
RGS13	6003	broad.mit.edu	37	1	192627429	192627429	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr1:192627429C>T	ENST00000391995.2	+	6	514	c.226C>T	c.(226-228)Cgg>Tgg	p.R76W	RGS13_ENST00000482095.1_3'UTR|RGS13_ENST00000543215.1_Missense_Mutation_p.R76W	NM_002927.4	NP_002918.1	O14921	RGS13_HUMAN	regulator of G-protein signaling 13	76	RGS.					plasma membrane	GTPase activator activity|signal transducer activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|skin(1)	19						AATTGCCTCACGGTGGAGCAG	0.413													11	91					0	0	0.411799	0	0	T	192627429	C	T	192627429	3	4	24	1	0	0	0	0	1	0	0	0	13346	527	19	1	236	1	RGS13	1	192627429	Missense_Mutation	SNP	C	TCGA-DB-5275-01A-01D-1468-08	22623790	192627429	56623192	7	1025											
PTPRC	5788	broad.mit.edu	37	1	198677313	198677313	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr1:198677313C>T	ENST00000367376.2	+	10	1121	c.950C>T	c.(949-951)aCt>aTt	p.T317I	PTPRC_ENST00000594404.1_Missense_Mutation_p.T156I|PTPRC_ENST00000442510.2_Missense_Mutation_p.T319I|PTPRC_ENST00000348564.6_Missense_Mutation_p.T158I|PTPRC_ENST00000352140.3_Missense_Mutation_p.T269I	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	317					axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						AAAGCAGATACTACTATTTGT	0.294													51	72					0	0	0.870114	0	0	T	198677313	C	T	198677313	3	4	24	1	0	0	0	0	1	0	0	0	12849	565	20	2	995	2	PTPRC	1	198677313	Missense_Mutation	SNP	C	TCGA-DB-5275-01A-01D-1468-08	6049884	198677313	50573308	8	1026											
SULT1C3	442038	broad.mit.edu	37	2	108881449	108881449	+	Missense_Mutation	SNP	T	T	C			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr2:108881449T>C	ENST00000329106.2	+	6	790	c.790T>C	c.(790-792)Ttt>Ctt	p.F264L		NM_001008743.1	NP_001008743.1	Q6IMI6	ST1C3_HUMAN	sulfotransferase family, cytosolic, 1C, member 3	264						cytoplasm	alcohol sulfotransferase activity			breast(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(4)	16						CATCTCCCCTTTTATGAGGAA	0.408													6	153					0	0	0.27861	0	0	C	108881449	T	C	108881449	3	2	24	1	0	0	0	0	1	0	0	0	15434	1841	64	3	812	3	SULT1C3	2	108881449	Missense_Mutation	SNP	T	TCGA-DB-5275-01A-01D-1468-08		108881449	134317924	9	1027											
SCN2A	6326	broad.mit.edu	37	2	166223805	166223805	+	Missense_Mutation	SNP	C	C	A			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr2:166223805C>A	ENST00000357398.3	+	19	3889	c.3599C>A	c.(3598-3600)aCa>aAa	p.T1200K	SCN2A_ENST00000283256.6_Missense_Mutation_p.T1200K|SCN2A_ENST00000375427.2_Missense_Mutation_p.T1200K|SCN2A_ENST00000375437.2_Missense_Mutation_p.T1200K			Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	1200					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	TTGAGGAAAACATGCTATAAG	0.418													3	104					6.4e-05	7.84516e-05	0.115264	1	0	A	166223805	C	A	166223805	3	1	24	1	0	0	0	0	1	0	0	0	13970	478	17	5	3765	5	SCN2A	2	166223805	Missense_Mutation	SNP	C	TCGA-DB-5275-01A-01D-1468-08	57342356	166223805	76975568	10	1028											
TTN	7273	broad.mit.edu	37	2	179422826	179422826	+	Silent	SNP	A	A	G			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr2:179422826A>G	ENST00000589042.1	-	328	87479	c.87255T>C	c.(87253-87255)ctT>ctC	p.L29085L	TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342992.6_Silent_p.L26517L|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000591111.1_Silent_p.L27444L|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Silent_p.L20145L|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000342175.6_Silent_p.L20212L|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000460472.2_Silent_p.L20020L	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	27444	Fibronectin type-III 112.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGGTTGCCTTAAGGGGGACAC	0.413													7	175					0	0	0.248553	0	0	G	179422826	A	G	179422826	2	3	24	1	0	0	0	0	0	0	0	1	16797	349	13	3		3	TTN	2	179422826	Silent	SNP	A	TCGA-DB-5275-01A-01D-1468-08	13199021	179422826	63776547	11	1029											
ZSWIM2	151112	broad.mit.edu	37	2	187702143	187702143	+	Silent	SNP	G	G	A			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr2:187702143G>A	ENST00000295131.2	-	5	672	c.633C>T	c.(631-633)ttC>ttT	p.F211F		NM_182521.2	NP_872327.2	Q8NEG5	ZSWM2_HUMAN	zinc finger, SWIM-type containing 2	211					apoptosis		zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			TAGAGTTTTTGAATTCCTCCA	0.393													6	147					0	0	0.248553	0	0	A	187702143	G	A	187702143	2	1	24	1	0	0	0	0	0	0	0	1	18281	1281	45	2		2	ZSWIM2	2	187702143	Silent	SNP	G	TCGA-DB-5275-01A-01D-1468-08	8279317	187702143	55497230	12	1030											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								49	81					0	0	0.870114	0	0	T	209113112	C	T	209113112	3	4	24	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-DB-5275-01A-01D-1468-08	21410969	209113112	34086261	13	1031											
PER2	8864	broad.mit.edu	37	2	239185809	239185809	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr2:239185809C>T	ENST00000254657.3	-	3	535	c.256G>A	c.(256-258)Gca>Aca	p.A86T	PER2_ENST00000355768.2_Missense_Mutation_p.A86T|PER2_ENST00000440245.1_Missense_Mutation_p.A86T|PER2_ENST00000254658.3_Missense_Mutation_p.A86T	NM_022817.2	NP_073728.1	O15055	PER2_HUMAN	period circadian clock 2	86					circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|signal transducer activity	p.A86T(1)		NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)		TCAGATTTTGCCATCATCAGG	0.383													5	477					0	0	0.184627	0	0	T	239185809	C	T	239185809	3	4	24	1	0	0	0	0	1	0	0	0	11777	739	26	2	3595	2	PER2	2	239185809	Missense_Mutation	SNP	C	TCGA-DB-5275-01A-01D-1468-08	30072697	239185809	4013564	14	1032											
SETD5	55209	broad.mit.edu	37	3	9476091	9476091	+	Missense_Mutation	SNP	C	C	A			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr3:9476091C>A	ENST00000402198.1	+	5	686	c.251C>A	c.(250-252)tCt>tAt	p.S84Y	SETD5_ENST00000402466.1_5'UTR|SETD5_ENST00000302463.6_5'UTR|SETD5_ENST00000407969.1_Missense_Mutation_p.S103Y|SETD5_ENST00000406341.1_Missense_Mutation_p.S84Y	NM_001080517.1	NP_001073986.1	Q9C0A6	SETD5_HUMAN	SET domain containing 5	84										NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		AGCCCGAACTCTGAAGGAGAA	0.532													28	56					7.07758e-08	9.11688e-08	0.681144	1	0	A	9476091	C	A	9476091	3	1	24	1	0	0	0	0	1	0	0	0	14188	913	32	4	261	4	SETD5	3	9476091	Missense_Mutation	SNP	C	TCGA-DB-5275-01A-01D-1468-08		9476091	188546339	15	1033											
ARPP21	10777	broad.mit.edu	37	3	35758847	35758847	+	Silent	SNP	T	T	C			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr3:35758847T>C	ENST00000187397.4	+	13	1449	c.993T>C	c.(991-993)ttT>ttC	p.F331F	ARPP21_ENST00000417925.1_Silent_p.F297F|ARPP21_ENST00000444190.1_Intron|ARPP21_ENST00000337271.5_Intron|ARPP21_ENST00000458225.1_Silent_p.F297F	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa	331						cytoplasm	nucleic acid binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						GACAGCTCTTTCGGTTGGTAT	0.308													3	162					0	0	0.184627	0	0	C	35758847	T	C	35758847	2	2	24	1	0	0	0	0	0	0	0	1	977	1780	62	3		3	ARPP21	3	35758847	Silent	SNP	T	TCGA-DB-5275-01A-01D-1468-08	26282756	35758847	162263583	16	1034											
DNAJB11	51726	broad.mit.edu	37	3	186302222	186302222	+	Missense_Mutation	SNP	C	C	A			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr3:186302222C>A	ENST00000439351.1	+	10	1785	c.856C>A	c.(856-858)Cat>Aat	p.H286N	DNAJB11_ENST00000265028.3_Missense_Mutation_p.H286N			Q9UBS4	DJB11_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 11	286					protein folding	endoplasmic reticulum lumen	heat shock protein binding			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|urinary_tract(2)	15	all_cancers(143;2.84e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.44e-20)	GBM - Glioblastoma multiforme(93;0.0476)		TTTCTAGGTACATATTTCCCG	0.468													3	67					6.4e-05	7.84516e-05	0.115264	1	0	A	186302222	C	A	186302222	3	1	24	1	0	0	0	0	1	0	0	0	4643	478	17	5	890	5	DNAJB11	3	186302222	Missense_Mutation	SNP	C	TCGA-DB-5275-01A-01D-1468-08	150543375	186302222	11720208	17	1035											
SRP72	6731	broad.mit.edu	37	4	57340227	57340227	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr4:57340227G>A	ENST00000342756.5	+	4	1083	c.362G>A	c.(361-363)cGt>cAt	p.R121H	SRP72_ENST00000510663.1_Missense_Mutation_p.R121H|SRP72_ENST00000504757.1_Missense_Mutation_p.R121H	NM_006947.3	NP_008878.3	O76094	SRP72_HUMAN	signal recognition particle 72kDa	121					response to drug|SRP-dependent cotranslational protein targeting to membrane	cytosol|nucleolus|plasma membrane|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding|signal recognition particle binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(7)|ovary(2)	22	Glioma(25;0.08)|all_neural(26;0.101)					CAGTTATACCGTTTGGAACGC	0.353													23	27					0	0	0.717897	0	0	A	57340227	G	A	57340227	3	1	24	1	0	0	0	0	1	0	0	0	15213	1145	40	1	376	1	SRP72	4	57340227	Missense_Mutation	SNP	G	TCGA-DB-5275-01A-01D-1468-08		57340227	133814049	18	1036											
BBS12	166379	broad.mit.edu	37	4	123664857	123664857	+	Missense_Mutation	SNP	T	T	C			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr4:123664857T>C	ENST00000542236.1	+	3	2191	c.1810T>C	c.(1810-1812)Tat>Cat	p.Y604H	BBS12_ENST00000314218.3_Missense_Mutation_p.Y604H	NM_001178007.1	NP_001171478.1	Q6ZW61	BBS12_HUMAN	Bardet-Biedl syndrome 12	604					cellular protein metabolic process	cilium	ATP binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|prostate(4)	21						AACTCTCCTATATAACACTGC	0.408									Bardet-Biedl syndrome				6	85					0	0	0.217242	0	0	C	123664857	T	C	123664857	3	2	24	1	0	0	0	0	1	0	0	0	1335	1406	49	3	1812	3	BBS12	4	123664857	Missense_Mutation	SNP	T	TCGA-DB-5275-01A-01D-1468-08	66324630	123664857	67489419	19	1037											
RAD50	10111	broad.mit.edu	37	5	131940537	131940537	+	Missense_Mutation	SNP	A	A	G			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr5:131940537A>G	ENST00000378823.3	+	16	2965	c.2147A>G	c.(2146-2148)gAc>gGc	p.D716G	RAD50_ENST00000265335.6_Missense_Mutation_p.D855G	NM_005732.3	NP_005723.2	Q92878	RAD50_HUMAN	RAD50 homolog (S. cerevisiae)	855	Zinc-hook.				DNA duplex unwinding|double-strand break repair via homologous recombination|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|telomere maintenance via telomerase	Mre11 complex|nuclear chromosome, telomeric region|nucleoplasm	ATP binding|DNA binding|nuclease activity|protein binding, bridging|zinc ion binding			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		all_cancers(142;0.0368)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CTTATACAGGACCAGCAGGAA	0.333								Homologous recombination					18	45					0	0	0.557998	0	0	G	131940537	A	G	131940537	3	3	24	1	0	0	0	0	1	0	0	0	13036	275	10	3	2626	3	RAD50	5	131940537	Missense_Mutation	SNP	A	TCGA-DB-5275-01A-01D-1468-08		131940537	48974723	20	1038											
DNAH8	1769	broad.mit.edu	37	6	38830127	38830127	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr6:38830127G>A	ENST00000359357.3	+	42	5806	c.5552G>A	c.(5551-5553)gGc>gAc	p.G1851D	DNAH8_ENST00000449981.2_Missense_Mutation_p.G2068D|DNAH8_ENST00000441566.1_Missense_Mutation_p.G1851D					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						GCTGGCACTGGCAAAACAGAA	0.463													4	209					0	0	0.150653	0	0	A	38830127	G	A	38830127	3	1	24	1	0	0	0	0	1	0	0	0	4634	1203	42	2	5710	2	DNAH8	6	38830127	Missense_Mutation	SNP	G	TCGA-DB-5275-01A-01D-1468-08		38830127	132284940	21	1039											
TPBG	7162	broad.mit.edu	37	6	83075717	83075717	+	Missense_Mutation	SNP	A	A	G			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr6:83075717A>G	ENST00000369750.3	+	2	1656	c.1039A>G	c.(1039-1041)Att>Gtt	p.I347V	TPBG_ENST00000535040.1_Missense_Mutation_p.I347V|TPBG_ENST00000543496.1_Missense_Mutation_p.I347V			Q13641	TPBG_HUMAN	trophoblast glycoprotein	347					cell adhesion	integral to plasma membrane				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	15		all_cancers(76;0.000805)|Acute lymphoblastic leukemia(125;3.85e-06)|all_hematologic(105;0.0017)|all_epithelial(107;0.0897)		BRCA - Breast invasive adenocarcinoma(397;0.107)		CTGTGACCCGATTCTTCCCCC	0.507													6	135					0	0	0.217242	0	0	G	83075717	A	G	83075717	3	3	24	1	0	0	0	0	1	0	0	0	16455	333	12	3	1041	3	TPBG	6	83075717	Missense_Mutation	SNP	A	TCGA-DB-5275-01A-01D-1468-08	44245590	83075717	88039350	22	1040											
MCHR2	84539	broad.mit.edu	37	6	100382335	100382335	+	Missense_Mutation	SNP	A	A	G			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr6:100382335A>G	ENST00000281806.2	-	5	960	c.646T>C	c.(646-648)Tgc>Cgc	p.C216R	MCHR2_ENST00000369212.2_Missense_Mutation_p.C216R	NM_001040179.1	NP_001035269.1	Q969V1	MCHR2_HUMAN	melanin-concentrating hormone receptor 2	216						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	39		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)		BRCA - Breast invasive adenocarcinoma(108;0.0429)		AAAATATAGCACACCAAAATC	0.323													90	132					0	0	0.870114	0	0	G	100382335	A	G	100382335	3	3	24	1	0	0	0	0	1	0	0	0	9433	159	6	3	384	3	MCHR2	6	100382335	Missense_Mutation	SNP	A	TCGA-DB-5275-01A-01D-1468-08	17306618	100382335	70732732	23	1041											
STK31	56164	broad.mit.edu	37	7	23768774	23768792	+	Frame_Shift_Del	DEL	TTCCTTTGGAGCTGCAGTT	TTCCTTTGGAGCTGCAGTT	-			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr7:23768774_23768792delTTCCTTTGGAGCTGCAGTT	ENST00000354639.3	+	6	784_802	c.320_338delTTCCTTTGGAGCTGCAGTT	c.(319-339)attcctttggagctgcagtttfs	p.IPLELQF107fs	STK31_ENST00000428484.1_Frame_Shift_Del_p.IPLELQF107fs|STK31_ENST00000355870.3_Frame_Shift_Del_p.IPLELQF130fs|STK31_ENST00000405627.3_3'UTR|STK31_ENST00000433467.2_Frame_Shift_Del_p.IPLELQF130fs	NM_001260504.1|NM_032944.3	NP_001247433.1|NP_116562.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	130	Tudor.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						ATAGTTGAAATTCCTTTGGAGCTGCAGTTTTCTAGTGTT	0.356													19	125	---	---	---	---						-	23768792	TTCCTTTGGAGCTGCAGTT	-	23768774	7	5	24	1	0	1	0	1	0	0	0	0	15352	1493	52	0	411	0	STK31	7	23768774	Frame_Shift_Del	DEL	TTCCTTTGGAGCTGCAGTT	TCGA-DB-5275-01A-01D-1468-08		23768774	135369889	24	1042											
ANLN	54443	broad.mit.edu	37	7	36445820	36445820	+	Missense_Mutation	SNP	C	C	A			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr7:36445820C>A	ENST00000265748.2	+	4	739	c.518C>A	c.(517-519)cCa>cAa	p.P173Q	ANLN_ENST00000396068.2_Missense_Mutation_p.P173Q	NM_018685.2	NP_061155.2	Q9NQW6	ANLN_HUMAN	anillin, actin binding protein	173	Nuclear localization.				cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly	actomyosin contractile ring|nucleus	actin binding			breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2)	45						CTCTTCTCACCAATGCCATCA	0.453													4	162					0.150653	0.17089	0.150653	1	0	A	36445820	C	A	36445820	3	1	24	1	0	0	0	0	1	0	0	0	688	594	21	5	532	5	ANLN	7	36445820	Missense_Mutation	SNP	C	TCGA-DB-5275-01A-01D-1468-08	12677046	36445820	122692843	25	1043											
ZNF277	11179	broad.mit.edu	37	7	111936282	111936284	+	Splice_Site	DEL	AGA	AGA	-			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr7:111936282_111936284delAGA	ENST00000361822.3	+	4	511_512	c.382_383delAGA	c.(382-384)aga>a	p.R128del	ZNF277_ENST00000450657.1_Splice_Site_p.R128del	NM_021994.2	NP_068834.2	Q9NRM2	ZN277_HUMAN	zinc finger protein 277	128						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	15						ATCTCTCAACAGAAGAACAAGAG	0.3													13	241	---	---	---	---						-	111936284	AGA	-	111936282	8	5	24	1	0	1	0	1	0	0	1	0	17870	202	7	0	395	0	ZNF277	7	111936282	Splice_Site	DEL	AGA	TCGA-DB-5275-01A-01D-1468-08	75490462	111936282	47202381	26	1044											
UBN2	254048	broad.mit.edu	37	7	138982568	138982568	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr7:138982568C>T	ENST00000473989.3	+	18	4030	c.4030C>T	c.(4030-4032)Cgg>Tgg	p.R1344W	UBN2_ENST00000288561.8_Missense_Mutation_p.R1261W	NM_173569.3	NP_775840.3	Q6ZU65	UBN2_HUMAN	ubinuclein 2											NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						TAAATTACCACGGAAATCTCA	0.418													23	41					0	0	0.717897	0	0	T	138982568	C	T	138982568	3	4	24	1	0	0	0	0	1	0	0	0	16954	527	19	1	4100	1	UBN2	7	138982568	Missense_Mutation	SNP	C	TCGA-DB-5275-01A-01D-1468-08	27046286	138982568	20156095	27	1045											
RECQL4	9401	broad.mit.edu	37	8	145740580	145740580	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr8:145740580delT	ENST00000428558.2	-	8	1478	c.1437delA	c.(1435-1437)caafs	p.Q479fs	RECQL4_ENST00000532237.1_5'UTR	NM_004260.3	NP_004251.3	O94761	RECQ4_HUMAN	RecQ protein-like 4	479					DNA duplex unwinding|DNA recombination|DNA repair	cytoplasm|nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|DNA strand annealing activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-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;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			GGCGAAAGGCTTGGTGCCCCA	0.637			"N, F, S"			"osteosarcoma, skin basal and sqamous cell"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Rothmund-Thomson syndrome;RAPADILINO syndrome;Baller-Gerold syndrome				5	2	---	---	---	---						-	145740580	T	-	145740580	7	5	24	1	0	1	0	1	0	0	0	0	13254	1606	56	0	2246	0	RECQL4	8	145740580	Frame_Shift_Del	DEL	T	TCGA-DB-5275-01A-01D-1468-08		145740580	623442	28	1046											
GLDC	2731	broad.mit.edu	37	9	6644691	6644691	+	Splice_Site	SNP	C	C	T			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr9:6644691C>T	ENST00000321612.6	-	2	407	c.257G>A	c.(256-258)aGc>aAc	p.S86N		NM_000170.2	NP_000161.2	P23378	GCSP_HUMAN	glycine dehydrogenase (decarboxylating)	86					glycine catabolic process	mitochondrion	electron carrier activity|glycine dehydrogenase (decarboxylating) activity|lyase activity|pyridoxal phosphate binding			cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Acute lymphoblastic leukemia(23;0.161)		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	TTCATCAATGCTCTAAAATTA	0.463													36	54					0	0	0.804634	0	0	T	6644691	C	T	6644691	5	4	24	1	0	0	0	0	0	0	1	0	6475	811	28	2	2901	2	GLDC	9	6644691	Splice_Site	SNP	C	TCGA-DB-5275-01A-01D-1468-08		6644691	134568740	29	1047											
ABCA1	19	broad.mit.edu	37	9	107593303	107593303	+	Missense_Mutation	SNP	C	C	A			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr9:107593303C>A	ENST00000374736.3	-	14	2189	c.1795G>T	c.(1795-1797)Gtg>Ttg	p.V599L		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	599					Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	TGCTCCACCACATCCTGCAAG	0.537													4	154					0.150653	0.17089	0.150653	1	0	A	107593303	C	A	107593303	3	1	24	1	0	0	0	0	1	0	0	0	28	478	17	5	5138	5	ABCA1	9	107593303	Missense_Mutation	SNP	C	TCGA-DB-5275-01A-01D-1468-08	100948612	107593303	33620128	30	1048											
API5	8539	broad.mit.edu	37	11	43348086	43348087	+	Frame_Shift_Del	DEL	AT	AT	-			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr11:43348086_43348087delAT	ENST00000378852.3	+	7	905_906	c.780_781delAT	c.(778-783)acatatfs	p.Y261fs	API5_ENST00000534600.1_Frame_Shift_Del_p.Y261fs|API5_ENST00000531273.1_Frame_Shift_Del_p.Y261fs|API5_ENST00000534695.1_Intron|API5_ENST00000420461.2_Frame_Shift_Del_p.Y207fs|API5_ENST00000455725.2_Frame_Shift_Del_p.Y250fs	NM_001142930.1|NM_006595.3	NP_001136402.1|NP_006586.1	Q9BZZ5	API5_HUMAN	apoptosis inhibitor 5	261					anti-apoptosis|apoptosis	cytoplasm|spliceosomal complex	fibroblast growth factor binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	20						GGTTTGTGACATATTTCTGTGA	0.376													70	166	---	---	---	---						-	43348087	AT	-	43348086	7	5	24	1	0	1	0	1	0	0	0	0	769	204	8	0	806	0	API5	11	43348086	Frame_Shift_Del	DEL	AT	TCGA-DB-5275-01A-01D-1468-08		43348086	91658430	31	1049											
TCIRG1	10312	broad.mit.edu	37	11	67815190	67815192	+	In_Frame_Del	DEL	ACA	ACA	-			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr11:67815190_67815192delACA	ENST00000265686.3	+	12	1490_1492	c.1382_1384delACA	c.(1381-1386)tacaac>tac	p.N462del	TCIRG1_ENST00000532635.1_In_Frame_Del_p.N246del	NM_006019.3	NP_006010.2	Q13488	VPP3_HUMAN	T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3	462			Missing (in OPTB1).		ATP hydrolysis coupled proton transport|cellular defense response|cellular iron ion homeostasis|insulin receptor signaling pathway|positive regulation of cell proliferation|transferrin transport	apical plasma membrane|endosome membrane|integral to plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	hydrogen ion transmembrane transporter activity			breast(1)|endometrium(4)|large_intestine(3)|lung(4)|ovary(3)|prostate(1)	16						GGCTTCATCTACAACGAGTGCTT	0.64													26	285	---	---	---	---						-	67815192	ACA	-	67815190	7	5	24	1	0	1	0	1	0	0	0	0	15763	391	14	0	1424	0	TCIRG1	11	67815190	In_Frame_Del	DEL	ACA	TCGA-DB-5275-01A-01D-1468-08	24467104	67815190	67191326	32	1050											
GRAMD1B	57476	broad.mit.edu	37	11	123476150	123476153	+	Frame_Shift_Del	DEL	ACTA	ACTA	-			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr11:123476150_123476153delACTA	ENST00000529750.1	+	9	1185_1188	c.858_861delACTA	c.(856-861)acactafs	p.TL286fs	GRAMD1B_ENST00000322282.7_Frame_Shift_Del_p.TL286fs|GRAMD1B_ENST00000456860.2_Frame_Shift_Del_p.TL293fs	NM_020716.1	NP_065767.1	Q3KR37	GRM1B_HUMAN	GRAM domain containing 1B	286						integral to membrane				NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.32e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0394)		CCAACAGCACACTAACATCCACAG	0.534													67	138	---	---	---	---						-	123476153	ACTA	-	123476150	7	5	24	1	0	1	0	1	0	0	0	0	6789	146	6	0	892	0	GRAMD1B	11	123476150	Frame_Shift_Del	DEL	ACTA	TCGA-DB-5275-01A-01D-1468-08	55660960	123476150	11530366	33	1051											
ANO2	57101	broad.mit.edu	37	12	5860068	5860068	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr12:5860068G>A	ENST00000546188.1	-	11	1186	c.1115C>T	c.(1114-1116)cCa>cTa	p.P372L	ANO2_ENST00000356134.5_Missense_Mutation_p.P372L|ANO2_ENST00000327087.8_Missense_Mutation_p.P371L			Q9NQ90	ANO2_HUMAN	anoctamin 2	376						chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						TACAGAAGATGGGATGAGGAA	0.348													4	68					0	0	0.184627	0	0	A	5860068	G	A	5860068	3	1	24	1	0	0	0	0	1	0	0	0	691	1348	47	2	1948	2	ANO2	12	5860068	Missense_Mutation	SNP	G	TCGA-DB-5275-01A-01D-1468-08		5860068	127991827	34	1052											
CD163L1	283316	broad.mit.edu	37	12	7586027	7586027	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr12:7586027G>A	ENST00000313599.3	-	3	445	c.388C>T	c.(388-390)Cgg>Tgg	p.R130W	CD163L1_ENST00000416109.2_Missense_Mutation_p.R130W|CD163L1_ENST00000396630.1_Missense_Mutation_p.R130W			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	130	SRCR 1.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						CCCCATTCCCGGTGTTGACAT	0.438													6	212					0	0	0.217242	0	0	A	7586027	G	A	7586027	3	1	24	1	0	0	0	0	1	0	0	0	2990	1115	39	1	4041	1	CD163L1	12	7586027	Missense_Mutation	SNP	G	TCGA-DB-5275-01A-01D-1468-08	1725959	7586027	126265868	35	1053											
STAT6	6778	broad.mit.edu	37	12	57493169	57493169	+	Missense_Mutation	SNP	C	C	A			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr12:57493169C>A	ENST00000300134.3	-	16	2124	c.1799G>T	c.(1798-1800)cGc>cTc	p.R600L	STAT6_ENST00000537215.2_Missense_Mutation_p.R490L|STAT6_ENST00000543873.2_Missense_Mutation_p.R600L|STAT6_ENST00000454075.3_Missense_Mutation_p.R600L|STAT6_ENST00000556155.1_Missense_Mutation_p.R600L|STAT6_ENST00000538913.2_Missense_Mutation_p.R490L	NM_001178078.1|NM_003153.4	NP_001171549.1|NP_003144.3	P42226	STAT6_HUMAN	signal transducer and activator of transcription 6, interleukin-4 induced	600	SH2.				regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	28						CCCCAGTGAGCGAATGGACAG	0.532													3	95					0.150653	0.17089	0.150653	1	0	A	57493169	C	A	57493169	3	1	24	1	0	0	0	0	1	0	0	0	15326	768	27	5	772	5	STAT6	12	57493169	Missense_Mutation	SNP	C	TCGA-DB-5275-01A-01D-1468-08	49907142	57493169	76358726	36	1054											
TBK1	29110	broad.mit.edu	37	12	64891776	64891776	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr12:64891776G>A	ENST00000331710.5	+	20	2434	c.2095G>A	c.(2095-2097)Ggg>Agg	p.G699R		NM_013254.3	NP_037386.1	Q9UHD2	TBK1_HUMAN	TANK-binding kinase 1	699					I-kappaB kinase/NF-kappaB cascade|innate immune response|interspecies interaction between organisms|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of transcription from RNA polymerase II promoter|response to virus|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)	20				GBM - Glioblastoma multiforme(28;0.0386)		AGAGATGGAAGGGGTGGTTAA	0.299													59	51					0	0	0.870114	0	0	A	64891776	G	A	64891776	3	1	24	1	0	0	0	0	1	0	0	0	15697	1000	35	2	2169	2	TBK1	12	64891776	Missense_Mutation	SNP	G	TCGA-DB-5275-01A-01D-1468-08	7398607	64891776	68960119	37	1055											
NUP37	79023	broad.mit.edu	37	12	102471196	102471196	+	Missense_Mutation	SNP	A	A	C			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr12:102471196A>C	ENST00000552283.1	-	7	765	c.626T>G	c.(625-627)gTg>gGg	p.V209G	NUP37_ENST00000251074.1_Missense_Mutation_p.V209G			Q8NFH4	NUP37_HUMAN	nucleoporin 37kDa	209					carbohydrate metabolic process|cell division|chromosome segregation|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	protein binding			endometrium(3)|large_intestine(3)|lung(10)|ovary(1)	17						CATTAATGGCACTTGTTCTGA	0.403													6	191					0	0	0.248553	0	0	C	102471196	A	C	102471196	3	2	24	1	0	0	0	0	1	0	0	0	10812	159	6	5	370	5	NUP37	12	102471196	Missense_Mutation	SNP	A	TCGA-DB-5275-01A-01D-1468-08	37579420	102471196	31380699	38	1056											
NOS1	4842	broad.mit.edu	37	12	117768410	117768410	+	Silent	SNP	G	G	A			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr12:117768410G>A	ENST00000317775.6	-	2	1150	c.465C>T	c.(463-465)ccC>ccT	p.P155P	NOS1_ENST00000338101.4_Silent_p.P155P|NOS1_ENST00000344089.3_Silent_p.P155P	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN	nitric oxide synthase 1 (neuronal)	155	Interaction with NOSIP (By similarity).				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	GCCCATTCCCGGGACCCGAGG	0.701													43	64					0	0	0.870114	0	0	A	117768410	G	A	117768410	2	1	24	1	0	0	0	0	0	0	0	1	10588	1103	39	1		1	NOS1	12	117768410	Silent	SNP	G	TCGA-DB-5275-01A-01D-1468-08	15297214	117768410	16083485	39	1057											
ZCCHC8	55596	broad.mit.edu	37	12	122958070	122958070	+	Missense_Mutation	SNP	G	G	C			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr12:122958070G>C	ENST00000543897.1	-	12	3739	c.1384C>G	c.(1384-1386)Cag>Gag	p.Q462E	ZCCHC8_ENST00000536306.1_Missense_Mutation_p.Q462E|ZCCHC8_ENST00000538116.1_Missense_Mutation_p.Q311E|ZCCHC8_ENST00000336229.4_Missense_Mutation_p.Q700E			Q6NZY4	ZCHC8_HUMAN	zinc finger, CCHC domain containing 8	700						catalytic step 2 spliceosome	nucleic acid binding|protein binding|zinc ion binding			endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.25e-05)|Epithelial(86;0.000113)|BRCA - Breast invasive adenocarcinoma(302;0.202)		TTGTTTTTCTGCTGGTTTCGG	0.373													33	54					0	0	0.740014	0	0	C	122958070	G	C	122958070	3	2	24	1	0	0	0	0	1	0	0	0	17652	1328	46	5	29	5	ZCCHC8	12	122958070	Missense_Mutation	SNP	G	TCGA-DB-5275-01A-01D-1468-08	5189660	122958070	10893825	40	1058											
DNAH10	196385	broad.mit.edu	37	12	124401043	124401043	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr12:124401043G>A	ENST00000409039.3	+	62	10433	c.10408G>A	c.(10408-10410)Gag>Aag	p.E3470K		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	3470	AAA 5 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		CAAGCAGCTAGAGATGTCCAT	0.453													13	169					0	0	0.479597	0	0	A	124401043	G	A	124401043	3	1	24	1	0	0	0	0	1	0	0	0	4626	943	33	2	10654	2	DNAH10	12	124401043	Missense_Mutation	SNP	G	TCGA-DB-5275-01A-01D-1468-08	1442973	124401043	9450852	41	1059											
PARP2	10038	broad.mit.edu	37	14	20818733	20818733	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr14:20818733G>T	ENST00000527915.1	+	5	417	c.412G>T	c.(412-414)Gaa>Taa	p.E138*	PARP2_ENST00000429687.3_Nonsense_Mutation_p.E125*|PARP2_ENST00000250416.5_Nonsense_Mutation_p.E138*			Q9UGN5	PARP2_HUMAN	poly (ADP-ribose) polymerase 2	138					protein ADP-ribosylation	nucleolus|nucleoplasm	DNA binding|NAD+ ADP-ribosyltransferase activity			central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)	15	all_cancers(95;0.00092)	all_lung(585;0.235)	Epithelial(56;5.34e-07)|all cancers(55;3.7e-06)	GBM - Glioblastoma multiforme(265;0.00888)|READ - Rectum adenocarcinoma(17;0.0649)		TCAGCTATTAGAAGATGATGC	0.368								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA					4	154					0.00909568	0.0109726	0.150653	1	0	T	20818733	G	T	20818733	4	4	24	1	0	0	0	0	0	1	0	0	11508	943	33	4	430	4	PARP2	14	20818733	Nonsense_Mutation	SNP	G	TCGA-DB-5275-01A-01D-1468-08		20818733	86530807	42	1060											
MAGEL2	54551	broad.mit.edu	37	15	23890478	23890478	+	Silent	SNP	A	A	G			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr15:23890478A>G	ENST00000532292.1	-	1	697	c.603T>C	c.(601-603)ttT>ttC	p.F201F		NM_019066.4	NP_061939.3			MAGE-like 2											breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		AGGGGCCTTTAAAGGCATTCA	0.577													7	130					0	0	0.27861	0	0	G	23890478	A	G	23890478	2	3	24	1	0	0	0	0	0	0	0	1	9239	359	13	3		3	MAGEL2	15	23890478	Silent	SNP	A	TCGA-DB-5275-01A-01D-1468-08		23890478	78640914	43	1061											
APBA2	321	broad.mit.edu	37	15	29390775	29390775	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr15:29390775C>T	ENST00000558402.1	+	10	1933	c.1334C>T	c.(1333-1335)aCg>aTg	p.T445M	APBA2_ENST00000558330.1_Missense_Mutation_p.T433M|APBA2_ENST00000561069.1_Missense_Mutation_p.T445M|APBA2_ENST00000558259.1_Missense_Mutation_p.T445M|APBA2_ENST00000411764.1_Missense_Mutation_p.T433M			Q99767	APBA2_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 2	445	PID.				nervous system development|protein transport		protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		AATGCAGACACGCAGGTAAGC	0.478													29	42					0	0	0.706142	0	0	T	29390775	C	T	29390775	3	4	24	1	0	0	0	0	1	0	0	0	753	536	19	1	1356	1	APBA2	15	29390775	Missense_Mutation	SNP	C	TCGA-DB-5275-01A-01D-1468-08	5500297	29390775	73140617	44	1062											
SLC30A4	7782	broad.mit.edu	37	15	45777517	45777517	+	Splice_Site	SNP	T	T	A			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr15:45777517T>A	ENST00000261867.4	-	8	1450		c.e8-2		RP11-519G16.3_ENST00000560647.1_RNA|RP11-519G16.3_ENST00000558536.1_RNA	NM_013309.4	NP_037441.2	O14863	ZNT4_HUMAN	solute carrier family 30 (zinc transporter), member 4						regulation of sequestering of zinc ion|response to toxin	endosome membrane|integral to membrane|late endosome	zinc ion transmembrane transporter activity			endometrium(3)|large_intestine(2)|lung(8)|prostate(1)|stomach(1)	15		Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.58e-16)|GBM - Glioblastoma multiforme(94;2.15e-06)		TTCCAGGAACTGCAATGTCAA	0.318													6	59					0	0	0.248553	0	0	A	45777517	T	A	45777517	5	1	24	1	0	0	0	0	0	0	1	0	14612	1594	55	5	159	5	SLC30A4	15	45777517	Splice_Site	SNP	T	TCGA-DB-5275-01A-01D-1468-08	16386742	45777517	56753875	45	1063											
FBN1	2200	broad.mit.edu	37	15	48795985	48795985	+	Splice_Site	SNP	T	T	C			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr15:48795985T>C	ENST00000316623.5	-	17	2567	c.2112A>G	c.(2110-2112)tcA>tcG	p.S704S		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	704	TB 3.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		ACCACATACCTGAATTCTGTG	0.483													40	71					0	0	0.853193	0	0	C	48795985	T	C	48795985	5	2	24	1	0	0	0	0	0	0	1	0	5735	1594	55	3	6703	3	FBN1	15	48795985	Splice_Site	SNP	T	TCGA-DB-5275-01A-01D-1468-08	3018468	48795985	53735407	46	1064											
VPS13C	54832	broad.mit.edu	37	15	62302717	62302717	+	Missense_Mutation	SNP	C	C	A			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr15:62302717C>A	ENST00000261517.5	-	13	1038	c.965G>T	c.(964-966)tGc>tTc	p.C322F	VPS13C_ENST00000395896.4_Missense_Mutation_p.C322F|VPS13C_ENST00000249837.3_Missense_Mutation_p.C279F|VPS13C_ENST00000395898.3_Missense_Mutation_p.C279F	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13 homolog C (S. cerevisiae)	322					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						TTCTATGTTGCAATCCAGTTT	0.393													55	120					3.19069e-20	4.33022e-20	0.870114	1	0	A	62302717	C	A	62302717	3	1	24	1	0	0	0	0	1	0	0	0	17251	710	25	5	10616	5	VPS13C	15	62302717	Missense_Mutation	SNP	C	TCGA-DB-5275-01A-01D-1468-08	13506732	62302717	40228675	47	1065											
PRSS54	221191	broad.mit.edu	37	16	58324919	58324919	+	Silent	SNP	G	G	A			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr16:58324919G>A	ENST00000219301.4	-	4	601	c.207C>T	c.(205-207)ttC>ttT	p.F69F	PRSS54_ENST00000567164.1_Silent_p.F69F|PRSS54_ENST00000543437.1_Intron	NM_001080492.1	NP_001073961.1	Q6PEW0	PRS54_HUMAN	protease, serine, 54	69	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						GGATGCAGCCGAAAGCCAGGT	0.627													5	133					0	0	0.184627	0	0	A	58324919	G	A	58324919	2	1	24	1	0	0	0	0	0	0	0	1	12682	1049	37	1		1	PRSS54	16	58324919	Silent	SNP	G	TCGA-DB-5275-01A-01D-1468-08		58324919	32029834	48	1066											
ZFHX3	463	broad.mit.edu	37	16	72821213	72821213	+	Silent	SNP	C	C	A			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr16:72821213C>A	ENST00000268489.5	-	10	11634	c.10962G>T	c.(10960-10962)tcG>tcT	p.S3654S	ZFHX3_ENST00000397992.5_Silent_p.S2740S	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	3654					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				CTGTTGGCATCGAGGGCTGAA	0.602													5	234					0.014758	0.0175251	0.184627	1	0	A	72821213	C	A	72821213	2	1	24	1	0	0	0	0	0	0	0	1	17692	871	31	5		5	ZFHX3	16	72821213	Silent	SNP	C	TCGA-DB-5275-01A-01D-1468-08	14496294	72821213	17533540	49	1067											
TP53	7157	broad.mit.edu	37	17	7577532	7577532	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr17:7577532G>A	ENST00000420246.2	-	7	881	c.749C>T	c.(748-750)cCc>cTc	p.P250L	TP53_ENST00000413465.2_Missense_Mutation_p.P250L|TP53_ENST00000455263.2_Missense_Mutation_p.P250L|TP53_ENST00000359597.4_Missense_Mutation_p.P250L|TP53_ENST00000269305.4_Missense_Mutation_p.P250L|TP53_ENST00000445888.2_Missense_Mutation_p.P250L	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	250	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).		P -> A (in sporadic cancers; somatic mutation).|P -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> H (in sporadic cancers; somatic mutation).|P -> L (in sporadic cancers; somatic mutation).|P -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> Q (in sporadic cancers; somatic mutation).|P -> S (in sporadic cancers; somatic mutation).|P -> T (in sporadic cancers; somatic mutation).|RP -> SA (in a sporadic cancer; somatic mutation).|RP -> SS (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.P250L(45)|p.0?(8)|p.?(5)|p.P250H(4)|p.P250F(3)|p.P250N(2)|p.M246_P250delMNRRP(2)|p.P250_L252delPIL(2)|p.P250Q(2)|p.R248_P250delRRP(1)|p.P250_T253delPILT(1)|p.N247_P250delNRRP(1)|p.R249_P250delRP(1)|p.R249_T256delRPILTIIT(1)|p.I251fs*94(1)|p.R249_I251delRPI(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)		GGTGAGGATGGGCCTCCGGTT	0.577		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)			76	17					0	0	0.870114	0	0	A	7577532	G	A	7577532	3	1	24	1	0	0	0	0	1	0	0	0	16442	1232	43	2	541	2	TP53	17	7577532	Missense_Mutation	SNP	G	TCGA-DB-5275-01A-01D-1468-08		7577532	73617678	50	1068											
SPOP	8405	broad.mit.edu	37	17	47688719	47688719	+	Missense_Mutation	SNP	C	C	A			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr17:47688719C>A	ENST00000393331.3	-	8	1051	c.581G>T	c.(580-582)tGg>tTg	p.W194L	SPOP_ENST00000503676.1_Missense_Mutation_p.W194L|SPOP_ENST00000504102.1_Missense_Mutation_p.W194L|SPOP_ENST00000393328.2_Missense_Mutation_p.W194L|SPOP_ENST00000347630.2_Missense_Mutation_p.W194L	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	O43791	SPOP_HUMAN	speckle-type POZ protein	194	BTB.				mRNA processing	nucleus	protein binding			endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						GGAATTCTCCCACAGTCCTCC	0.488										Prostate(2;0.17)			5	320					0.184627	0.206348	0.184627	1	0	A	47688719	C	A	47688719	3	1	24	1	0	0	0	0	1	0	0	0	15140	595	21	5	563	5	SPOP	17	47688719	Missense_Mutation	SNP	C	TCGA-DB-5275-01A-01D-1468-08	40111187	47688719	33506491	51	1069											
SLC39A6	25800	broad.mit.edu	37	18	33706819	33706819	+	Missense_Mutation	SNP	G	G	C			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr18:33706819G>C	ENST00000269187.5	-	2	365	c.152C>G	c.(151-153)tCc>tGc	p.S51C	SLC39A6_ENST00000440549.2_Intron|SLC39A6_ENST00000590986.1_Missense_Mutation_p.S51C	NM_012319.3	NP_036451	Q13433	S39A6_HUMAN	solute carrier family 39 (zinc transporter), member 6	51						integral to membrane|lamellipodium membrane	zinc ion transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	41						TTGCCGTGTGGAAATTGCCAA	0.388													6	175					0	0	0.248553	0	0	C	33706819	G	C	33706819	3	2	24	1	0	0	0	0	1	0	0	0	14677	1174	41	5	2163	5	SLC39A6	18	33706819	Missense_Mutation	SNP	G	TCGA-DB-5275-01A-01D-1468-08		33706819	44370429	52	1070											
MUC16	94025	broad.mit.edu	37	19	9069716	9069716	+	Silent	SNP	A	A	C			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr19:9069716A>C	ENST00000397910.4	-	3	17933	c.17730T>G	c.(17728-17730)acT>acG	p.T5910T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5912	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ACACGCCCTTAGTACTTCTGC	0.498													68	125					0	0	0.870114	0	0	C	9069716	A	C	9069716	2	2	24	1	0	0	0	0	0	0	0	1	10021	407	15	5		5	MUC16	19	9069716	Silent	SNP	A	TCGA-DB-5275-01A-01D-1468-08		9069716	50059267	53	1071											
RDH8	50700	broad.mit.edu	37	19	10127828	10127828	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr19:10127828G>A	ENST00000591589.1	+	2	448	c.259G>A	c.(259-261)Gtg>Atg	p.V87M	RDH8_ENST00000171214.1_Missense_Mutation_p.V67M			Q9NYR8	RDH8_HUMAN	retinol dehydrogenase 8 (all-trans)	67					estrogen biosynthetic process|response to stimulus|visual perception	cytoplasm|integral to plasma membrane	binding|estradiol 17-beta-dehydrogenase activity|NADP-retinol dehydrogenase activity|retinol dehydrogenase activity			endometrium(3)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|prostate(1)	21			Epithelial(33;4.24e-05)		Vitamin A(DB00162)	CCAGCTGGACGTGTGCAGTGA	0.627													25	24					0	0	0.693898	0	0	A	10127828	G	A	10127828	3	1	24	1	0	0	0	0	1	0	0	0	13248	1145	40	1	205	1	RDH8	19	10127828	Missense_Mutation	SNP	G	TCGA-DB-5275-01A-01D-1468-08	1058112	10127828	49001155	54	1072											
ILVBL	10994	broad.mit.edu	37	19	15228815	15228815	+	Missense_Mutation	SNP	C	C	G			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr19:15228815C>G	ENST00000263383.3	-	10	1202	c.1063G>C	c.(1063-1065)Gac>Cac	p.D355H	ILVBL_ENST00000534378.1_Missense_Mutation_p.D248H	NM_006844.3	NP_006835.2	A1L0T0	ILVBL_HUMAN	ilvB (bacterial acetolactate synthase)-like	355						integral to membrane	magnesium ion binding|thiamine pyrophosphate binding|transferase activity			NS(3)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)	26						AGGCGGAAGTCACACACAGTT	0.522													6	115					0	0	0.217242	0	0	G	15228815	C	G	15228815	3	3	24	1	0	0	0	0	1	0	0	0	7759	826	29	5	863	5	ILVBL	19	15228815	Missense_Mutation	SNP	C	TCGA-DB-5275-01A-01D-1468-08	5100987	15228815	43900168	55	1073											
RBM39	9584	broad.mit.edu	37	20	34320047	34320047	+	Missense_Mutation	SNP	T	T	C			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr20:34320047T>C	ENST00000361162.6	-	4	496	c.112A>G	c.(112-114)Agc>Ggc	p.S38G	RBM39_ENST00000253363.6_Missense_Mutation_p.S38G|RBM39_ENST00000407261.4_5'UTR|RBM39_ENST00000528062.3_Missense_Mutation_p.S38G	NM_004902.3|NM_184234.2	NP_004893.1|NP_909122.1	Q14498	RBM39_HUMAN	RNA binding motif protein 39	38					mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	centrosome|nuclear speck	nucleotide binding|protein binding|RNA binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	all_epithelial(2;0.00295)|Lung NSC(9;0.00453)|Breast(12;0.00544)|all_lung(11;0.00676)					CTGCTCTTGCTTTTTTTCCTC	0.398													3	172					0	0	0.115264	0	0	C	34320047	T	C	34320047	3	2	24	1	0	0	0	0	1	0	0	0	13185	1609	56	3	1536	3	RBM39	20	34320047	Missense_Mutation	SNP	T	TCGA-DB-5275-01A-01D-1468-08		34320047	28705473	56	1074											
ATRX	546	broad.mit.edu	37	X	76814305	76814305	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chrX:76814305delA	ENST00000373344.5	-	29	6553	c.6339delT	c.(6337-6339)tttfs	p.F2113fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.F2075fs	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	2113	Helicase C-terminal.				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.F2113fs*9(1)|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)	TAGAAATGATAAATAATCGTC	0.289			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						54	12	---	---	---	---						-	76814305	A	-	76814305	7	5	24	1	0	1	0	1	0	0	0	0	1206	359	13	0	1167	0	ATRX	23	76814305	Frame_Shift_Del	DEL	A	TCGA-DB-5275-01A-01D-1468-08		76814305	78456255	57	1075											
WDR3	10885	broad.mit.edu	37	1	118483783	118483783	+	Missense_Mutation	SNP	C	C	T	rs150881258		TCGA-DB-5276-01A-01D-1468-08	TCGA-DB-5276-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6b7655-9307-4c8b-b1f6-f29a4dabd72c	289ad150-2e4f-4d98-9ebc-af05a0b95e7f	g.chr1:118483783C>T	ENST00000349139.5	+	8	873	c.826C>T	c.(826-828)Cgg>Tgg	p.R276W	WDR3_ENST00000369441.3_3'UTR	NM_006784.2	NP_006775.1	Q9UNX4	WDR3_HUMAN	WD repeat domain 3							nuclear membrane|nucleolus		p.R276W(1)		breast(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(9)|liver(2)|lung(22)|prostate(2)|upper_aerodigestive_tract(1)	49	Esophageal squamous(2;0.162)	all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244)		OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185)		TTCCATAATGCGGGAAGGAAG	0.423													18	102					0	0	0.608945	0	0	T	118483783	C	T	118483783	3	4	25	1	0	0	0	0	1	0	0	0	17345	759	27	1	852	1	WDR3	1	118483783	Missense_Mutation	SNP	C	TCGA-DB-5276-01A-01D-1468-08		118483783	130766838	1	1076											
GMCL1	64395	broad.mit.edu	37	2	70092031	70092031	+	Splice_Site	SNP	G	G	T			TCGA-DB-5276-01A-01D-1468-08	TCGA-DB-5276-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6b7655-9307-4c8b-b1f6-f29a4dabd72c	289ad150-2e4f-4d98-9ebc-af05a0b95e7f	g.chr2:70092031G>T	ENST00000282570.3	+	11	1393		c.e11-1			NM_178439.3	NP_848526.1	Q96IK5	GMCL1_HUMAN	germ cell-less, spermatogenesis associated 1						cell differentiation|multicellular organismal development|spermatogenesis	nuclear matrix				endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	15						TATATTTTTAGGCCTCAAGAA	0.318													3	61					0.150653	0.15424	0.150653	1	0	T	70092031	G	T	70092031	5	4	25	1	0	0	0	0	0	0	1	0	6527	1014	35	4	1184	4	GMCL1	2	70092031	Splice_Site	SNP	G	TCGA-DB-5276-01A-01D-1468-08		70092031	173107342	2	1077											
ALMS1	7840	broad.mit.edu	37	2	73800143	73800143	+	Missense_Mutation	SNP	G	G	C			TCGA-DB-5276-01A-01D-1468-08	TCGA-DB-5276-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6b7655-9307-4c8b-b1f6-f29a4dabd72c	289ad150-2e4f-4d98-9ebc-af05a0b95e7f	g.chr2:73800143G>C	ENST00000264448.6	+	16	11247	c.11136G>C	c.(11134-11136)caG>caC	p.Q3712H	ALMS1_ENST00000409009.1_Missense_Mutation_p.Q3670H	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	3712					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						AAATTGAACAGATTAAATTTG	0.373													16	83					0	0	0.520397	0	0	C	73800143	G	C	73800143	3	2	25	1	0	0	0	0	1	0	0	0	531	933	33	4	11198	4	ALMS1	2	73800143	Missense_Mutation	SNP	G	TCGA-DB-5276-01A-01D-1468-08	3708112	73800143	169399230	3	1078											
XIRP2	129446	broad.mit.edu	37	2	168110545	168110545	+	Missense_Mutation	SNP	C	C	G			TCGA-DB-5276-01A-01D-1468-08	TCGA-DB-5276-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6b7655-9307-4c8b-b1f6-f29a4dabd72c	289ad150-2e4f-4d98-9ebc-af05a0b95e7f	g.chr2:168110545C>G	ENST00000409195.1	+	10	10648	c.10559C>G	c.(10558-10560)gCt>gGt	p.A3520G	XIRP2_ENST00000295237.9_Missense_Mutation_p.A3520G|XIRP2_ENST00000409756.2_Missense_Mutation_p.L394V|XIRP2_ENST00000409728.1_Missense_Mutation_p.L427V|XIRP2_ENST00000409043.1_Missense_Mutation_p.L394V|XIRP2_ENST00000409605.1_Missense_Mutation_p.L172V|XIRP2_ENST00000409273.1_Missense_Mutation_p.A3298G|XIRP2_ENST00000420519.1_Missense_Mutation_p.L427V	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	3345					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TTTTTAGAAGCTGCTGCTCCA	0.343													16	97					0	0	0.520397	0	0	G	168110545	C	G	168110545	3	3	25	1	0	0	0	0	1	0	0	0	17490	797	28	4	10593	4	XIRP2	2	168110545	Missense_Mutation	SNP	C	TCGA-DB-5276-01A-01D-1468-08	94310402	168110545	75088828	4	1079											
IDH1	3417	broad.mit.edu	37	2	209113113	209113113	+	Missense_Mutation	SNP	G	G	A	rs121913499		TCGA-DB-5276-01A-01D-1468-08	TCGA-DB-5276-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6b7655-9307-4c8b-b1f6-f29a4dabd72c	289ad150-2e4f-4d98-9ebc-af05a0b95e7f	g.chr2:209113113G>A	ENST00000415913.1	-	4	775	c.394C>T	c.(394-396)Cgt>Tgt	p.R132C	IDH1_ENST00000446179.1_Missense_Mutation_p.R132C|IDH1_ENST00000345146.2_Missense_Mutation_p.R132C	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		TAAGCATGACGACCTATGATG	0.398			Mis		gliobastoma								17	68					0	0	0.520397	0	0	A	209113113	G	A	209113113	3	1	25	1	0	0	0	0	1	0	0	0	7538	1058	37	1	878	1	IDH1	2	209113113	Missense_Mutation	SNP	G	TCGA-DB-5276-01A-01D-1468-08	41002568	209113113	34086260	5	1080											
BSN	8927	broad.mit.edu	37	3	49691063	49691064	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-DB-5276-01A-01D-1468-08	TCGA-DB-5276-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6b7655-9307-4c8b-b1f6-f29a4dabd72c	289ad150-2e4f-4d98-9ebc-af05a0b95e7f	g.chr3:49691063_49691064delCT	ENST00000296452.4	+	5	4188_4189	c.4074_4075delCT	c.(4072-4077)agctctfs	p.SS1358fs		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	1358					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		AGCTGCACAGCTCTCCTGCCTC	0.629													8	170	---	---	---	---						-	49691064	CT	-	49691063	7	5	25	1	0	1	0	1	0	0	0	0	1532	796	28	0	4092	0	BSN	3	49691063	Frame_Shift_Del	DEL	CT	TCGA-DB-5276-01A-01D-1468-08		49691063	148331367	6	1081											
CCDC158	339965	broad.mit.edu	37	4	77250102	77250102	+	Silent	SNP	G	G	A	rs138548683	by1000genomes	TCGA-DB-5276-01A-01D-1468-08	TCGA-DB-5276-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6b7655-9307-4c8b-b1f6-f29a4dabd72c	289ad150-2e4f-4d98-9ebc-af05a0b95e7f	g.chr4:77250102G>A	ENST00000388914.3	-	21	3101	c.2949C>T	c.(2947-2949)caC>caT	p.H983H		NM_001042784.1	NP_001036249.1	Q5M9N0	CD158_HUMAN	coiled-coil domain containing 158	983	Ser-rich.									breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						TGTCTCCTGCGTGTAATGTGA	0.433													8	71					0	0	0.27861	0	0	A	77250102	G	A	77250102	2	1	25	1	0	0	0	0	0	0	0	1	2809	1136	40	1		1	CCDC158	4	77250102	Silent	SNP	G	TCGA-DB-5276-01A-01D-1468-08		77250102	113904174	7	1082											
CPEB4	80315	broad.mit.edu	37	5	173316976	173316977	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-DB-5276-01A-01D-1468-08	TCGA-DB-5276-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6b7655-9307-4c8b-b1f6-f29a4dabd72c	289ad150-2e4f-4d98-9ebc-af05a0b95e7f	g.chr5:173316976_173316977delAA	ENST00000265085.5	+	1	1694_1695	c.240_241delAA	c.(238-243)gcaaaafs	p.K81fs	CPEB4_ENST00000519835.1_Frame_Shift_Del_p.K81fs|CPEB4_ENST00000520867.1_Frame_Shift_Del_p.K81fs|CPEB4_ENST00000334035.5_Frame_Shift_Del_p.K81fs	NM_030627.2	NP_085130.2	Q17RY0	CPEB4_HUMAN	cytoplasmic polyadenylation element binding protein 4	81							nucleotide binding|RNA binding			NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	20	Renal(175;0.000159)|Lung NSC(126;0.0128)|all_lung(126;0.0202)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			CAGAAAAAGCAAAAAGTCAGCA	0.49													39	165	---	---	---	---						-	173316977	AA	-	173316976	7	5	25	1	0	1	0	1	0	0	0	0	3826	117	5	0	242	0	CPEB4	5	173316976	Frame_Shift_Del	DEL	AA	TCGA-DB-5276-01A-01D-1468-08		173316976	7598284	8	1083											
TTYH3	80727	broad.mit.edu	37	7	2687233	2687234	+	Frame_Shift_Ins	INS	-	-	G			TCGA-DB-5276-01A-01D-1468-08	TCGA-DB-5276-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6b7655-9307-4c8b-b1f6-f29a4dabd72c	289ad150-2e4f-4d98-9ebc-af05a0b95e7f	g.chr7:2687233_2687234insG	ENST00000258796.7	+	4	792_793	c.587_588insG	c.(586-591)gaggtgfs	p.V197fs	TTYH3_ENST00000407643.1_Frame_Shift_Ins_p.V197fs	NM_025250.2	NP_079526.1	Q9C0H2	TTYH3_HUMAN	tweety family member 3	197						chloride channel complex|plasma membrane	chloride channel activity			kidney(1)|large_intestine(3)|lung(9)|prostate(2)|upper_aerodigestive_tract(2)	17		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;2.04e-14)		GTGTCGCTGGAGGTGCTGGCGG	0.673													2	4	---	---	---	---						G	2687234	-	G	2687233	7	5	25	1	0	1	1	0	0	0	0	0	16803	304	11	0	601	0	TTYH3	7	2687233	Frame_Shift_Ins	INS	-	TCGA-DB-5276-01A-01D-1468-08		2687233	156451430	9	1084											
SRRT	51593	broad.mit.edu	37	7	100482650	100482652	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-DB-5276-01A-01D-1468-08	TCGA-DB-5276-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6b7655-9307-4c8b-b1f6-f29a4dabd72c	289ad150-2e4f-4d98-9ebc-af05a0b95e7f	g.chr7:100482650_100482652delAGG	ENST00000388793.4	+	9	1368_1370	c.1148_1150delAGG	c.(1147-1152)aaggag>aag	p.E385del	SRRT_ENST00000432932.1_In_Frame_Del_p.E385del|SRRT_ENST00000457580.2_In_Frame_Del_p.E385del|SRRT_ENST00000347433.4_In_Frame_Del_p.E385del	NM_001128852.1|NM_015908.5	NP_001122324.1|NP_056992.4	Q9BXP5	SRRT_HUMAN	serrate RNA effector molecule homolog (Arabidopsis)	385	Glu-rich.				cell proliferation|primary miRNA processing|response to arsenic-containing substance	cytoplasm|nucleoplasm	protein binding			breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						GAGGAGGAGAAGGAGGAGGCCGG	0.581													15	342	---	---	---	---						-	100482652	AGG	-	100482650	7	5	25	1	0	1	0	1	0	0	0	0	15228	72	3	0	1178	0	SRRT	7	100482650	In_Frame_Del	DEL	AGG	TCGA-DB-5276-01A-01D-1468-08	97795417	100482650	58656013	10	1085											
RBP3	5949	broad.mit.edu	37	10	48390167	48390167	+	Silent	SNP	G	G	A			TCGA-DB-5276-01A-01D-1468-08	TCGA-DB-5276-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6b7655-9307-4c8b-b1f6-f29a4dabd72c	289ad150-2e4f-4d98-9ebc-af05a0b95e7f	g.chr10:48390167G>A	ENST00000224600.4	-	1	824	c.711C>T	c.(709-711)ggC>ggT	p.G237G		NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	237	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity	p.G237G(1)		central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	CCTCGGCCACGCCCCTGGTCT	0.657													25	64					0	0	0.639603	0	0	A	48390167	G	A	48390167	2	1	25	1	0	0	0	0	0	0	0	1	13209	1074	38	1		1	RBP3	10	48390167	Silent	SNP	G	TCGA-DB-5276-01A-01D-1468-08		48390167	87144580	11	1086											
TNNT3	7140	broad.mit.edu	37	11	1956135	1956135	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-5276-01A-01D-1468-08	TCGA-DB-5276-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6b7655-9307-4c8b-b1f6-f29a4dabd72c	289ad150-2e4f-4d98-9ebc-af05a0b95e7f	g.chr11:1956135C>T	ENST00000381558.1	+	13	922	c.643C>T	c.(643-645)Cgc>Tgc	p.R215C	TNNT3_ENST00000278317.6_Missense_Mutation_p.R223C|TNNT3_ENST00000381579.3_Missense_Mutation_p.R215C|TNNT3_ENST00000360603.3_Missense_Mutation_p.R217C|TNNT3_ENST00000397301.1_Missense_Mutation_p.R234C|TNNT3_ENST00000397304.2_Missense_Mutation_p.R204C|TNNT3_ENST00000381549.3_Missense_Mutation_p.R215C|TNNT3_ENST00000446240.1_Missense_Mutation_p.R204C|TNNT3_ENST00000381548.3_Missense_Mutation_p.R225C|TNNT3_ENST00000381561.4_Missense_Mutation_p.R226C|TNNT3_ENST00000381589.3_Missense_Mutation_p.R221C|TNNT3_ENST00000493234.1_3'UTR			P45378	TNNT3_HUMAN	troponin T type 3 (skeletal, fast)	234					muscle filament sliding|regulation of ATPase activity|regulation of striated muscle contraction|skeletal muscle contraction	cytosol|troponin complex	calcium-dependent protein binding|tropomyosin binding|troponin C binding|troponin I binding	p.R223C(1)		breast(2)|endometrium(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(4)|stomach(1)	19		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00253)|Lung(200;0.0333)|LUSC - Lung squamous cell carcinoma(625;0.0826)		GAAGCTGAAACGCCAGAAATA	0.612													5	185					0	0	0.184627	0	0	T	1956135	C	T	1956135	3	4	25	1	0	0	0	0	1	0	0	0	16392	536	19	1	758	1	TNNT3	11	1956135	Missense_Mutation	SNP	C	TCGA-DB-5276-01A-01D-1468-08		1956135	133050381	12	1087											
OR51V1	283111	broad.mit.edu	37	11	5221701	5221701	+	Missense_Mutation	SNP	A	A	G			TCGA-DB-5276-01A-01D-1468-08	TCGA-DB-5276-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6b7655-9307-4c8b-b1f6-f29a4dabd72c	289ad150-2e4f-4d98-9ebc-af05a0b95e7f	g.chr11:5221701A>G	ENST00000321255.1	-	1	229	c.230T>C	c.(229-231)cTc>cCc	p.L77P		NM_001004760.2	NP_001004760.2	Q9H2C8	O51V1_HUMAN	olfactory receptor, family 51, subfamily V, member 1	77					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(13)|lung(19)|skin(2)|upper_aerodigestive_tract(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAGGTCAGTGAGGGCCAGCAT	0.537													6	66					0	0	0.27861	0	0	G	5221701	A	G	5221701	3	3	25	1	0	0	0	0	1	0	0	0	11155	304	11	3	738	3	OR51V1	11	5221701	Missense_Mutation	SNP	A	TCGA-DB-5276-01A-01D-1468-08	3265566	5221701	129784815	13	1088											
PRDM11	56981	broad.mit.edu	37	11	45245878	45245878	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-5276-01A-01D-1468-08	TCGA-DB-5276-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6b7655-9307-4c8b-b1f6-f29a4dabd72c	289ad150-2e4f-4d98-9ebc-af05a0b95e7f	g.chr11:45245878C>T	ENST00000263765.4	+	8	1204	c.955C>T	c.(955-957)Cgt>Tgt	p.R319C	PRDM11_ENST00000528980.1_Intron|PRDM11_ENST00000424263.2_Missense_Mutation_p.R285C|CTD-2560E9.3_ENST00000527450.1_RNA|PRDM11_ENST00000530656.1_Missense_Mutation_p.R319C			Q9NQV5	PRD11_HUMAN	PR domain containing 11	319										endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	26						TCCCTACAAGCGTGGCTTTGA	0.507													17	274					0	0	0.520397	0	0	T	45245878	C	T	45245878	3	4	25	1	0	0	0	0	1	0	0	0	12504	768	27	1	981	1	PRDM11	11	45245878	Missense_Mutation	SNP	C	TCGA-DB-5276-01A-01D-1468-08	40024177	45245878	89760638	14	1089											
C11orf68	83638	broad.mit.edu	37	11	65685203	65685203	+	Missense_Mutation	SNP	G	G	T			TCGA-DB-5276-01A-01D-1468-08	TCGA-DB-5276-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6b7655-9307-4c8b-b1f6-f29a4dabd72c	289ad150-2e4f-4d98-9ebc-af05a0b95e7f	g.chr11:65685203G>T	ENST00000438576.2	-	2	694	c.609C>A	c.(607-609)agC>agA	p.S203R	C11orf68_ENST00000449692.3_Missense_Mutation_p.S202R|C11orf68_ENST00000530188.1_Missense_Mutation_p.S161R			Q9H3H3	CK068_HUMAN	chromosome 11 open reading frame 68	161										large_intestine(1)|lung(3)	4				READ - Rectum adenocarcinoma(159;0.166)		TGGCACGTGGGCTCACCTTGG	0.632													4	65					0.150653	0.15424	0.150653	1	0	T	65685203	G	T	65685203	3	4	25	1	0	0	0	0	1	0	0	0	1663	1194	42	5	276	5	C11orf68	11	65685203	Missense_Mutation	SNP	G	TCGA-DB-5276-01A-01D-1468-08	20439325	65685203	69321313	15	1090											
C12orf40	283461	broad.mit.edu	37	12	40114882	40114885	+	Frame_Shift_Del	DEL	ACAA	ACAA	-			TCGA-DB-5276-01A-01D-1468-08	TCGA-DB-5276-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6b7655-9307-4c8b-b1f6-f29a4dabd72c	289ad150-2e4f-4d98-9ebc-af05a0b95e7f	g.chr12:40114882_40114885delACAA	ENST00000324616.5	+	13	1942_1945	c.1788_1791delACAA	c.(1786-1791)atacaafs	p.IQ596fs		NM_001031748.2	NP_001026918.2	Q86WS4	CL040_HUMAN	chromosome 12 open reading frame 40	596										breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2)	38						ATGCAGGGATACAAACAGAGAGTG	0.402													23	110	---	---	---	---						-	40114885	ACAA	-	40114882	7	5	25	1	0	1	0	1	0	0	0	0	1692	381	14	0	1838	0	C12orf40	12	40114882	Frame_Shift_Del	DEL	ACAA	TCGA-DB-5276-01A-01D-1468-08		40114882	93737013	16	1091											
ACTR10	55860	broad.mit.edu	37	14	58675824	58675824	+	Splice_Site	SNP	A	A	G			TCGA-DB-5276-01A-01D-1468-08	TCGA-DB-5276-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6b7655-9307-4c8b-b1f6-f29a4dabd72c	289ad150-2e4f-4d98-9ebc-af05a0b95e7f	g.chr14:58675824A>G	ENST00000254286.4	+	4	421	c.341A>G	c.(340-342)gAg>gGg	p.E114G		NM_018477.2	NP_060947.1	Q9NZ32	ARP10_HUMAN	actin-related protein 10 homolog (S. cerevisiae)	114						cytoplasm				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	13						AAATATTTTGAGGTACCTGTC	0.333													5	113					0	0	0.184627	0	0	G	58675824	A	G	58675824	5	3	25	1	0	0	0	0	0	0	1	0	208	318	11	3	355	3	ACTR10	14	58675824	Splice_Site	SNP	A	TCGA-DB-5276-01A-01D-1468-08		58675824	48673716	17	1092											
HEATR4	399671	broad.mit.edu	37	14	73989793	73989793	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DB-5276-01A-01D-1468-08	TCGA-DB-5276-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6b7655-9307-4c8b-b1f6-f29a4dabd72c	289ad150-2e4f-4d98-9ebc-af05a0b95e7f	g.chr14:73989793G>A	ENST00000553558.1	-	3	385	c.64C>T	c.(64-66)Cga>Tga	p.R22*	HEATR4_ENST00000334988.2_Nonsense_Mutation_p.R22*|HEATR4_ENST00000560393.1_De_novo_Start_OutOfFrame|RP3-414A15.2_ENST00000555972.2_RNA	NM_001220484.1	NP_001207413.1			HEAT repeat containing 4											breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28				BRCA - Breast invasive adenocarcinoma(234;0.00386)|OV - Ovarian serous cystadenocarcinoma(108;0.0719)		CATCCCAGTCGTGGGGGCAGT	0.517													10	51					0	0	0.335167	0	0	A	73989793	G	A	73989793	4	1	25	1	0	0	0	0	0	1	0	0	7071	1160	40	1		1	HEATR4	14	73989793	Nonsense_Mutation	SNP	G	TCGA-DB-5276-01A-01D-1468-08	15313969	73989793	33359747	18	1093											
BAIAP3	8938	broad.mit.edu	37	16	1397309	1397310	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DB-5276-01A-01D-1468-08	TCGA-DB-5276-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6b7655-9307-4c8b-b1f6-f29a4dabd72c	289ad150-2e4f-4d98-9ebc-af05a0b95e7f	g.chr16:1397309_1397310insT	ENST00000324385.5	+	29	3025_3026	c.2867_2868insT	c.(2866-2871)agttttfs	p.SF956fs	BAIAP3_ENST00000397489.1_Frame_Shift_Ins_p.SF938fs|BAIAP3_ENST00000421665.2_Frame_Shift_Ins_p.SF885fs|BAIAP3_ENST00000562208.1_Frame_Shift_Ins_p.SF898fs|BAIAP3_ENST00000564213.1_3'UTR|BAIAP3_ENST00000426824.3_Frame_Shift_Ins_p.SF921fs|BAIAP3_ENST00000397488.2_Frame_Shift_Ins_p.SF938fs|BAIAP3_ENST00000568887.1_Frame_Shift_Ins_p.SF893fs	NM_003933.4	NP_003924.2	O94812	BAIP3_HUMAN	BAI1-associated protein 3	956	MHD2.				G-protein coupled receptor protein signaling pathway|neurotransmitter secretion		protein C-terminus binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(25)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42		Hepatocellular(780;0.0893)				GCCCTGGTCAGTTTTTTCCACG	0.639													12	60	---	---	---	---						T	1397310	-	T	1397309	7	5	25	1	0	1	1	0	0	0	0	0	1302	1029	36	0	2981	0	BAIAP3	16	1397309	Frame_Shift_Ins	INS	-	TCGA-DB-5276-01A-01D-1468-08		1397309	88957444	19	1094											
ICT1	3396	broad.mit.edu	37	17	73016725	73016727	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-DB-5276-01A-01D-1468-08	TCGA-DB-5276-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6b7655-9307-4c8b-b1f6-f29a4dabd72c	289ad150-2e4f-4d98-9ebc-af05a0b95e7f	g.chr17:73016725_73016727delAAG	ENST00000301585.5	+	5	522_524	c.509_511delAAG	c.(508-513)aaagaa>aaa	p.E171del		NM_001545.1	NP_001536.1	Q14197	ICT1_HUMAN	immature colon carcinoma transcript 1	171					mitochondrial translational termination	mitochondrial large ribosomal subunit	aminoacyl-tRNA hydrolase activity|translation release factor activity, codon nonspecific			NS(1)|central_nervous_system(1)|lung(2)|ovary(1)|urinary_tract(1)	6	all_lung(278;0.226)					GAGCCAACAAAAGAAGATGTTAA	0.473													18	60	---	---	---	---						-	73016727	AAG	-	73016725	7	5	25	1	0	1	0	1	0	0	0	0	7532	14	1	0	527	0	ICT1	17	73016725	In_Frame_Del	DEL	AAG	TCGA-DB-5276-01A-01D-1468-08		73016725	8178485	20	1095											
LGALS13	29124	broad.mit.edu	37	19	40095291	40095291	+	Missense_Mutation	SNP	T	T	A			TCGA-DB-5276-01A-01D-1468-08	TCGA-DB-5276-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6b7655-9307-4c8b-b1f6-f29a4dabd72c	289ad150-2e4f-4d98-9ebc-af05a0b95e7f	g.chr19:40095291T>A	ENST00000221797.4	+	2	110	c.65T>A	c.(64-66)aTc>aAc	p.I22N		NM_013268.2	NP_037400.1	Q9UHV8	PP13_HUMAN	lectin, galactoside-binding, soluble, 13	22	Galectin.				lipid catabolic process|phospholipid metabolic process		carboxylesterase activity|lysophospholipase activity|sugar binding			lung(5)|ovary(1)|urinary_tract(1)	7	all_cancers(60;1.77e-05)|all_lung(34;5.38e-08)|Lung NSC(34;6.37e-08)|Ovarian(47;0.116)		Epithelial(26;3.28e-26)|OV - Ovarian serous cystadenocarcinoma(5;7.31e-25)|all cancers(26;1.15e-23)|LUSC - Lung squamous cell carcinoma(53;0.00281)			TGCGTGATAATCAAAGGGACA	0.473													6	138					0	0	0.248553	0	0	A	40095291	T	A	40095291	3	1	25	1	0	0	0	0	1	0	0	0	8779	1435	50	4	71	4	LGALS13	19	40095291	Missense_Mutation	SNP	T	TCGA-DB-5276-01A-01D-1468-08		40095291	19033692	21	1096											
ZNF582	147948	broad.mit.edu	37	19	56901871	56901871	+	Splice_Site	SNP	C	C	T			TCGA-DB-5276-01A-01D-1468-08	TCGA-DB-5276-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6b7655-9307-4c8b-b1f6-f29a4dabd72c	289ad150-2e4f-4d98-9ebc-af05a0b95e7f	g.chr19:56901871C>T	ENST00000301310.4	-	3	168		c.e3-1		ZNF582_ENST00000586929.1_Splice_Site	NM_144690.1	NP_653291.1	Q96NG8	ZN582_HUMAN	zinc finger protein 582						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0547)		ATTCTGACCCCTGGAATGACA	0.488													4	110					0	0	0.150653	0	0	T	56901871	C	T	56901871	5	4	25	1	0	0	0	0	0	0	1	0	18071	695	24	2	1556	2	ZNF582	19	56901871	Splice_Site	SNP	C	TCGA-DB-5276-01A-01D-1468-08	16806580	56901871	2227112	22	1097											
AURKC	6795	broad.mit.edu	37	19	57744018	57744018	+	Silent	SNP	C	C	T	rs141028635		TCGA-DB-5276-01A-01D-1468-08	TCGA-DB-5276-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6b7655-9307-4c8b-b1f6-f29a4dabd72c	289ad150-2e4f-4d98-9ebc-af05a0b95e7f	g.chr19:57744018C>T	ENST00000302804.7	+	4	591	c.405C>T	c.(403-405)agC>agT	p.S135S	AURKC_ENST00000599062.1_Silent_p.S132S|AURKC_ENST00000598785.1_Silent_p.S101S|AURKC_ENST00000415300.2_Silent_p.S116S|AURKC_ENST00000448930.1_Silent_p.S101S	NM_001015878.1	NP_001015878.1	Q9UQB9	AURKC_HUMAN	aurora kinase C	135	Protein kinase.				cell cycle|cytokinesis	condensed chromosome|cytoplasm|midbody|spindle midzone	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(1)|large_intestine(9)|lung(9)|ovary(3)|prostate(1)|stomach(1)	25		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0122)		TGCAGAAAAGCGAGAAATTAG	0.537													7	83					0	0	0.27861	0	0	T	57744018	C	T	57744018	2	4	25	1	0	0	0	0	0	0	0	1	1222	767	27	1		1	AURKC	19	57744018	Silent	SNP	C	TCGA-DB-5276-01A-01D-1468-08	842147	57744018	1384965	23	1098											
VPS16	64601	broad.mit.edu	37	20	2843377	2843377	+	Silent	SNP	C	C	T			TCGA-DB-5276-01A-01D-1468-08	TCGA-DB-5276-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6b7655-9307-4c8b-b1f6-f29a4dabd72c	289ad150-2e4f-4d98-9ebc-af05a0b95e7f	g.chr20:2843377C>T	ENST00000380443.3	+	1	275	c.186C>T	c.(184-186)gcC>gcT	p.A62A	VPS16_ENST00000380469.3_Intron|VPS16_ENST00000380445.3_Intron|VPS16_ENST00000481812.2_Intron			Q9H269	VPS16_HUMAN	vacuolar protein sorting 16 homolog (S. cerevisiae)	401					intracellular protein transport	early endosome|HOPS complex|late endosome membrane|lysosomal membrane|recycling endosome				NS(3)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	37						ATGGCCGGGCCGGGGAGGGTG	0.647													4	24					0	0	0.184627	0	0	T	2843377	C	T	2843377	2	4	25	1	0	0	0	0	0	0	0	1	17253	667	23	1		1	VPS16	20	2843377	Silent	SNP	C	TCGA-DB-5276-01A-01D-1468-08		2843377	60182143	24	1099											
TRMT6	51605	broad.mit.edu	37	20	5925533	5925533	+	Missense_Mutation	SNP	C	C	A			TCGA-DB-5276-01A-01D-1468-08	TCGA-DB-5276-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6b7655-9307-4c8b-b1f6-f29a4dabd72c	289ad150-2e4f-4d98-9ebc-af05a0b95e7f	g.chr20:5925533C>A	ENST00000203001.2	-	3	414	c.284G>T	c.(283-285)cGa>cTa	p.R95L	TRMT6_ENST00000473131.1_5'UTR|TRMT6_ENST00000453074.2_Intron	NM_015939.3	NP_057023.2	Q9UJA5	TRM6_HUMAN	tRNA methyltransferase 6 homolog (S. cerevisiae)	95					regulation of translational initiation|tRNA processing	nucleus	protein binding|translation initiation factor activity			breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)	15						AACTATATTTCGATTATCAGT	0.333													3	114					0.115264	0.123909	0.115264	1	0	A	5925533	C	A	5925533	3	1	25	1	0	0	0	0	1	0	0	0	16629	884	31	5	1245	5	TRMT6	20	5925533	Missense_Mutation	SNP	C	TCGA-DB-5276-01A-01D-1468-08	3082156	5925533	57099987	25	1100											
BCOR	54880	broad.mit.edu	37	X	39922031	39922032	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-DB-5276-01A-01D-1468-08	TCGA-DB-5276-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6b7655-9307-4c8b-b1f6-f29a4dabd72c	289ad150-2e4f-4d98-9ebc-af05a0b95e7f	g.chrX:39922031_39922032delCT	ENST00000342274.4	-	9	4400_4401	c.4038_4039delAG	c.(4036-4041)acagggfs	p.G1347fs	BCOR_ENST00000378463.1_Frame_Shift_Del_p.G224fs|BCOR_ENST00000397354.3_Frame_Shift_Del_p.G1347fs|BCOR_ENST00000378444.4_Frame_Shift_Del_p.G1381fs|BCOR_ENST00000378455.4_Frame_Shift_Del_p.G1329fs	NM_001123383.1	NP_001116855.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	1381					heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						TAGTATTCCCCTGTCAGTGGCA	0.579			"F, N, S, T"	RARA	"retinoblastoma, AML, APL(translocation)"		oculo-facio-cardio-dental genetic						14	27	---	---	---	---						-	39922032	CT	-	39922031	7	5	25	1	0	1	0	1	0	0	0	0	1384	681	24	0	1154	0	BCOR	23	39922031	Frame_Shift_Del	DEL	CT	TCGA-DB-5276-01A-01D-1468-08		39922031	115348529	26	1101											
ATRX	546	broad.mit.edu	37	X	76939181	76939184	+	Frame_Shift_Del	DEL	AGGA	AGGA	-			TCGA-DB-5276-01A-01D-1468-08	TCGA-DB-5276-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6b7655-9307-4c8b-b1f6-f29a4dabd72c	289ad150-2e4f-4d98-9ebc-af05a0b95e7f	g.chrX:76939181_76939184delAGGA	ENST00000373344.5	-	9	1778_1781	c.1564_1567delTCCT	c.(1564-1569)tcctcafs	p.SS522fs	ATRX_ENST00000395603.3_Frame_Shift_Del_p.SS484fs|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	522					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)	TCTGGAACTGAGGAAGGAACAGAC	0.407			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						72	204	---	---	---	---						-	76939184	AGGA	-	76939181	7	5	25	1	0	1	0	1	0	0	0	0	1206	304	11	0	6019	0	ATRX	23	76939181	Frame_Shift_Del	DEL	AGGA	TCGA-DB-5276-01A-01D-1468-08	37017150	76939181	78331379	27	1102											
TBX22	50945	broad.mit.edu	37	X	79279563	79279563	+	Splice_Site	SNP	C	C	T			TCGA-DB-5276-01A-01D-1468-08	TCGA-DB-5276-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6b7655-9307-4c8b-b1f6-f29a4dabd72c	289ad150-2e4f-4d98-9ebc-af05a0b95e7f	g.chrX:79279563C>T	ENST00000373294.5	+	3	386	c.358C>T	c.(358-360)Cgg>Tgg	p.R120W	TBX22_ENST00000373296.3_Splice_Site_p.R120W|TBX22_ENST00000442340.1_5'UTR|TBX22_ENST00000373291.1_5'UTR	NM_016954.2	NP_058650.1	Q9Y458	TBX22_HUMAN	T-box 22	120					multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(13)|lung(38)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						TTCTTACAGGCGGATGTTCCC	0.483													21	24					0	0	0.592651	0	0	T	79279563	C	T	79279563	5	4	25	1	0	0	0	0	0	0	1	0	15718	782	27	1	368	1	TBX22	23	79279563	Splice_Site	SNP	C	TCGA-DB-5276-01A-01D-1468-08	2340382	79279563	75990997	28	1103											
CHD5	26038	broad.mit.edu	37	1	6202211	6202212	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr1:6202211_6202212insA	ENST00000262450.3	-	15	2511_2512	c.2412_2413insT	c.(2410-2415)agtgggfs	p.G805fs	CHD5_ENST00000378021.1_5'UTR	NM_015557.2	NP_056372.1	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	805	Helicase ATP-binding.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		ACCTTCTTCCCACTCCGAATGG	0.599													115	202	---	---	---	---						A	6202212	-	A	6202211	7	5	26	1	0	1	1	0	0	0	0	0	3350	594	21	0	3559	0	CHD5	1	6202211	Frame_Shift_Ins	INS	-	TCGA-DB-5277-01A-01D-1468-08		6202211	243048410	1	1104											
HSPG2	3339	broad.mit.edu	37	1	22166420	22166420	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr1:22166420C>T	ENST00000374695.3	-	72	9683	c.9604G>A	c.(9604-9606)Gtg>Atg	p.V3202M		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	3202	Ig-like C2-type 17.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	CCCGTGTCCACGATCACCTCC	0.587													112	181					0	0	1	0	0	T	22166420	C	T	22166420	3	4	26	1	0	0	0	0	1	0	0	0	7474	536	19	1	3675	1	HSPG2	1	22166420	Missense_Mutation	SNP	C	TCGA-DB-5277-01A-01D-1468-08	15964209	22166420	227084201	2	1105											
C1orf173	127254	broad.mit.edu	37	1	75037595	75037595	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr1:75037595C>T	ENST00000326665.5	-	14	4017	c.3799G>A	c.(3799-3801)Gtg>Atg	p.V1267M	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	1267	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						GTCCTTAGCACGACATCCACT	0.577													6	198					0	0	1	0	0	T	75037595	C	T	75037595	3	4	26	1	0	0	0	0	1	0	0	0	2027	536	19	1	797	1	C1orf173	1	75037595	Missense_Mutation	SNP	C	TCGA-DB-5277-01A-01D-1468-08	52871175	75037595	174213026	3	1106											
FAM46C	54855	broad.mit.edu	37	1	118166247	118166247	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr1:118166247C>T	ENST00000369448.3	+	2	1004	c.757C>T	c.(757-759)Cgg>Tgg	p.R253W		NM_017709.3	NP_060179.2	Q5VWP2	FA46C_HUMAN	family with sequence similarity 46, member C	253										endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	15	Lung SC(450;0.225)	all_cancers(81;0.000101)|all_lung(203;3.4e-06)|all_epithelial(167;4.98e-06)|Lung NSC(69;2.33e-05)		Lung(183;0.0576)|LUSC - Lung squamous cell carcinoma(189;0.192)|Colorectal(144;0.247)		CCTTCTTGTGCGGGACTTCAG	0.512			"Mis, F, O"		MM					Multiple Myeloma(3;1.13e-06)			4	94					0	0	1	0	0	T	118166247	C	T	118166247	3	4	26	1	0	0	0	0	1	0	0	0	5603	759	27	1	759	1	FAM46C	1	118166247	Missense_Mutation	SNP	C	TCGA-DB-5277-01A-01D-1468-08	43128652	118166247	131084374	4	1107											
TMOD4	29765	broad.mit.edu	37	1	151146889	151146889	+	Silent	SNP	C	C	G			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr1:151146889C>G	ENST00000416280.2	-	3	357	c.258G>C	c.(256-258)gtG>gtC	p.V86V				Q9NZQ9	TMOD4_HUMAN	tropomodulin 4 (muscle)	138					muscle contraction	cytoplasm|cytoskeleton	actin binding|tropomyosin binding			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|stomach(1)	7	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			CTGTGAAGGGCACCAAGTCAT	0.562													5	344					0	0	1	0	0	G	151146889	C	G	151146889	2	3	26	1	0	0	0	0	0	0	0	1	16296	697	25	5		5	TMOD4	1	151146889	Silent	SNP	C	TCGA-DB-5277-01A-01D-1468-08	32980642	151146889	98103732	5	1108											
FLG	2312	broad.mit.edu	37	1	152278795	152278795	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr1:152278795G>A	ENST00000368799.1	-	3	8602	c.8567C>T	c.(8566-8568)tCg>tTg	p.S2856L	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2856	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ATGGTGACGCGACCCTGAGTG	0.577									Ichthyosis				15	1160					0	0	1	0	0	A	152278795	G	A	152278795	3	1	26	1	0	0	0	0	1	0	0	0	5955	1059	37	1	3622	1	FLG	1	152278795	Missense_Mutation	SNP	G	TCGA-DB-5277-01A-01D-1468-08	1131906	152278795	96971826	6	1109											
ASPM	259266	broad.mit.edu	37	1	197086968	197086968	+	Missense_Mutation	SNP	T	T	G			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr1:197086968T>G	ENST00000367409.4	-	17	4272	c.4016A>C	c.(4015-4017)aAa>aCa	p.K1339T	ASPM_ENST00000294732.7_Missense_Mutation_p.K1339T|ASPM_ENST00000367408.1_Missense_Mutation_p.K589T	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	1339					mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						CTTTTCCTTTTTTAACATTAA	0.289													6	298					0	0	1	0	0	G	197086968	T	G	197086968	3	3	26	1	0	0	0	0	1	0	0	0	1055	1841	64	5	6465	5	ASPM	1	197086968	Missense_Mutation	SNP	T	TCGA-DB-5277-01A-01D-1468-08	44808173	197086968	52163653	7	1110											
NLRP3	114548	broad.mit.edu	37	1	247582222	247582222	+	Silent	SNP	G	G	A			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr1:247582222G>A	ENST00000366497.2	+	2	906	c.126G>A	c.(124-126)ccG>ccA	p.P42P	NLRP3_ENST00000391827.2_Silent_p.P42P|NLRP3_ENST00000348069.2_Silent_p.P42P|NLRP3_ENST00000366496.2_Silent_p.P42P|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000391828.3_Silent_p.P42P|NLRP3_ENST00000336119.3_Silent_p.P42P	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	42	DAPIN.				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			TCCCCCTCCCGAGGGGTCAGA	0.562													34	52					0	0	1	0	0	A	247582222	G	A	247582222	2	1	26	1	0	0	0	0	0	0	0	1	10525	1045	37	1		1	NLRP3	1	247582222	Silent	SNP	G	TCGA-DB-5277-01A-01D-1468-08	50495254	247582222	1668399	8	1111											
NBAS	51594	broad.mit.edu	37	2	15555741	15555741	+	Missense_Mutation	SNP	C	C	G			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr2:15555741C>G	ENST00000281513.5	-	25	2891	c.2866G>C	c.(2866-2868)Gaa>Caa	p.E956Q	NBAS_ENST00000441750.1_Intron	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	956										NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						ACTAAATATTCTTTTAATAGC	0.368													87	108					0	0	1	0	0	G	15555741	C	G	15555741	3	3	26	1	0	0	0	0	1	0	0	0	10234	922	32	4	4361	4	NBAS	2	15555741	Missense_Mutation	SNP	C	TCGA-DB-5277-01A-01D-1468-08		15555741	227643632	9	1112											
VIT	5212	broad.mit.edu	37	2	37035632	37035632	+	Silent	SNP	C	C	T			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr2:37035632C>T	ENST00000379242.3	+	15	1709	c.1407C>T	c.(1405-1407)aaC>aaT	p.N469N	VIT_ENST00000379241.3_Silent_p.N432N|VIT_ENST00000389975.3_Silent_p.N454N|VIT_ENST00000404084.1_Silent_p.N406N|VIT_ENST00000497382.1_Silent_p.N123N|VIT_ENST00000401530.1_Silent_p.N433N	NM_053276.3	NP_444506.2	Q6UXI7	VITRN_HUMAN	vitrin	454	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)				GCAGAACAAACGGCTTCTACT	0.622													24	51					0	0	1	0	0	T	37035632	C	T	37035632	2	4	26	1	0	0	0	0	0	0	0	1	17231	535	19	1		1	VIT	2	37035632	Silent	SNP	C	TCGA-DB-5277-01A-01D-1468-08	21479891	37035632	206163741	10	1113											
KIAA1841	84542	broad.mit.edu	37	2	61315601	61315601	+	Silent	SNP	A	A	C			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr2:61315601A>C	ENST00000402291.1	+	10	1327	c.1086A>C	c.(1084-1086)atA>atC	p.I362I	KIAA1841_ENST00000356719.2_Silent_p.I362I|KIAA1841_ENST00000295031.5_Silent_p.I362I|KIAA1841_ENST00000482513.1_3'UTR|KIAA1841_ENST00000453873.1_Silent_p.I362I	NM_001129993.1	NP_001123465.1	Q6NSI8	K1841_HUMAN	KIAA1841	362										breast(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	25			Epithelial(17;0.193)			ATATTCACATAAGGTGTCGTG	0.328													35	26					0	0	1	0	0	C	61315601	A	C	61315601	2	2	26	1	0	0	0	0	0	0	0	1	8303	352	13	5		5	KIAA1841	2	61315601	Silent	SNP	A	TCGA-DB-5277-01A-01D-1468-08	24279969	61315601	181883772	11	1114											
RFTN2	130132	broad.mit.edu	37	2	198436793	198436793	+	Missense_Mutation	SNP	C	C	A			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr2:198436793C>A	ENST00000295049.4	-	9	1981	c.1445G>T	c.(1444-1446)cGg>cTg	p.R482L		NM_144629.2	NP_653230.2	Q52LD8	RFTN2_HUMAN	raftlin family member 2							plasma membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(13)|urinary_tract(3)	30						GTCTAATTCCCGGAGGACGTT	0.532													3	97					1	1	1	1	0	A	198436793	C	A	198436793	3	1	26	1	0	0	0	0	1	0	0	0	13311	652	23	5	64	5	RFTN2	2	198436793	Missense_Mutation	SNP	C	TCGA-DB-5277-01A-01D-1468-08	137121192	198436793	44762580	12	1115											
ADAM23	8745	broad.mit.edu	37	2	207310230	207310230	+	Missense_Mutation	SNP	C	C	G			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr2:207310230C>G	ENST00000264377.3	+	2	742	c.414C>G	c.(412-414)caC>caG	p.H138Q	ADAM23_ENST00000374415.3_Missense_Mutation_p.H138Q|ADAM23_ENST00000374416.1_Missense_Mutation_p.H138Q	NM_003812.2	NP_003803.1	O75077	ADA23_HUMAN	ADAM metallopeptidase domain 23	138					cell adhesion|central nervous system development|proteolysis	extracellular region|integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	51				LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)		AGGCAAGACACCAGCAAAAAC	0.398													44	100					0	0	1	0	0	G	207310230	C	G	207310230	3	3	26	1	0	0	0	0	1	0	0	0	244	506	18	5	420	5	ADAM23	2	207310230	Missense_Mutation	SNP	C	TCGA-DB-5277-01A-01D-1468-08	8873437	207310230	35889143	13	1116											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								21	60					0	0	1	0	0	T	209113112	C	T	209113112	3	4	26	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-DB-5277-01A-01D-1468-08	1802882	209113112	34086261	14	1117											
SP100	6672	broad.mit.edu	37	2	231314895	231314895	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr2:231314895G>A	ENST00000264052.5	+	8	1100	c.745G>A	c.(745-747)Gaa>Aaa	p.E249K	SP100_ENST00000409341.1_Missense_Mutation_p.E249K|SP100_ENST00000340126.4_Missense_Mutation_p.E249K|SP100_ENST00000341950.4_Missense_Mutation_p.E249K|SP100_ENST00000409112.1_Missense_Mutation_p.E249K|SP100_ENST00000427101.2_Missense_Mutation_p.E224K|SP100_ENST00000409824.1_Missense_Mutation_p.E224K|SP100_ENST00000409897.1_Missense_Mutation_p.E214K	NM_003113.3	NP_003104.2	P23497	SP100_HUMAN	SP100 nuclear antigen	249					DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|interspecies interaction between organisms|negative regulation of cellular component movement|negative regulation of DNA binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of viral transcription|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to cytokine stimulus|response to retinoic acid|response to type I interferon	cytoplasm|nuclear periphery|nucleolus|PML body	chromo shadow domain binding|DNA binding|identical protein binding|kinase binding|protein homodimerization activity|transcription coactivator activity|transcription corepressor activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1)	25		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		AGAGTCCTGCGAACAAATTGC	0.473													75	59					0	0	1	0	0	A	231314895	G	A	231314895	3	1	26	1	0	0	0	0	1	0	0	0	15014	1059	37	1	775	1	SP100	2	231314895	Missense_Mutation	SNP	G	TCGA-DB-5277-01A-01D-1468-08	22201783	231314895	11884478	15	1118											
GPR149	344758	broad.mit.edu	37	3	154145322	154145322	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr3:154145322G>A	ENST00000389740.2	-	2	1256	c.1157C>T	c.(1156-1158)gCg>gTg	p.A386V		NM_001038705.1	NP_001033794.1	Q86SP6	GP149_HUMAN	G protein-coupled receptor 149	386						integral to membrane|plasma membrane	G-protein coupled receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			CCCATCGGACGCCACTGCATA	0.488													37	6					0	0	1	0	0	A	154145322	G	A	154145322	3	1	26	1	0	0	0	0	1	0	0	0	6694	1087	38	1	1050	1	GPR149	3	154145322	Missense_Mutation	SNP	G	TCGA-DB-5277-01A-01D-1468-08		154145322	43877108	16	1119											
SPEF2	79925	broad.mit.edu	37	5	35709170	35709170	+	Missense_Mutation	SNP	A	A	G			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr5:35709170A>G	ENST00000440995.2	+	19	2771	c.2771A>G	c.(2770-2772)cAt>cGt	p.H924R	CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000509059.1_Missense_Mutation_p.H924R|SPEF2_ENST00000356031.3_Missense_Mutation_p.H929R			Q9C093	SPEF2_HUMAN	sperm flagellar 2	929					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AAGGAAATTCATCAAAGCCAT	0.418													21	145					0	0	1	0	0	G	35709170	A	G	35709170	3	3	26	1	0	0	0	0	1	0	0	0	15091	217	8	3	2881	3	SPEF2	5	35709170	Missense_Mutation	SNP	A	TCGA-DB-5277-01A-01D-1468-08		35709170	145206090	17	1120											
PAIP1	10605	broad.mit.edu	37	5	43529961	43529961	+	Missense_Mutation	SNP	C	C	G			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr5:43529961C>G	ENST00000306846.3	-	10	1505	c.1273G>C	c.(1273-1275)Gaa>Caa	p.E425Q	PAIP1_ENST00000514514.1_Intron|PAIP1_ENST00000338972.4_Missense_Mutation_p.E313Q|PAIP1_ENST00000436644.2_Missense_Mutation_p.E346Q	NM_006451.4|NM_182789.3	NP_006442.2|NP_877590.1	Q9H074	PAIP1_HUMAN	poly(A) binding protein interacting protein 1	425					mRNA stabilization|nuclear-transcribed mRNA poly(A) tail shortening|translational initiation	cytosol	protein binding|RNA binding|translation activator activity			endometrium(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Lung NSC(6;2.07e-05)					TCAAGTAATTCTTGGTATTTC	0.333													3	120					0	0	1	0	0	G	43529961	C	G	43529961	3	3	26	1	0	0	0	0	1	0	0	0	11443	922	32	4	174	4	PAIP1	5	43529961	Missense_Mutation	SNP	C	TCGA-DB-5277-01A-01D-1468-08	7820791	43529961	137385299	18	1121											
ANKHD1	54882	broad.mit.edu	37	5	139917069	139917069	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr5:139917069C>T	ENST00000297183.6	+	31	7247	c.7123C>T	c.(7123-7125)Cga>Tga	p.R2375*	ANKHD1_ENST00000360839.2_Nonsense_Mutation_p.R2375*|ANKHD1-EIF4EBP3_ENST00000532219.1_Nonsense_Mutation_p.R2375*|ANKHD1_ENST00000544120.1_Nonsense_Mutation_p.R699*	NM_020690.5	NP_065741.3			ankyrin repeat and KH domain containing 1											breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGACTGGCCCGAATTCGGCA	0.552													54	7					0	0	1	0	0	T	139917069	C	T	139917069	4	4	26	1	0	0	0	0	0	1	0	0	624	644	23	1	7351	1	ANKHD1	5	139917069	Nonsense_Mutation	SNP	C	TCGA-DB-5277-01A-01D-1468-08	96387108	139917069	40998191	19	1122											
SH3TC2	79628	broad.mit.edu	37	5	148407828	148407828	+	Silent	SNP	G	G	A			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr5:148407828G>A	ENST00000538184.1	-	7	996	c.108C>T	c.(106-108)ttC>ttT	p.F36F	SH3TC2_ENST00000515425.1_Silent_p.F489F|SH3TC2_ENST00000394358.2_Silent_p.F374F|SH3TC2_ENST00000512049.1_Silent_p.F482F			Q8TF17	S3TC2_HUMAN	SH3 domain and tetratricopeptide repeats 2	489							binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAGAGAAGGAGAAGTCATAGA	0.483													4	133					0	0	1	0	0	A	148407828	G	A	148407828	2	1	26	1	0	0	0	0	0	0	0	1	14317	933	33	2		2	SH3TC2	5	148407828	Silent	SNP	G	TCGA-DB-5277-01A-01D-1468-08	8490759	148407828	32507432	20	1123											
ATP10B	23120	broad.mit.edu	37	5	160047926	160047926	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr5:160047926C>T	ENST00000327245.5	-	15	2690	c.1844G>A	c.(1843-1845)gGg>gAg	p.G615E	CTC-348L5.1_ENST00000523598.1_RNA	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	615					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CAGGGACGTCCCCAGAGCCTT	0.488													6	216					0	0	1	0	0	T	160047926	C	T	160047926	3	4	26	1	0	0	0	0	1	0	0	0	1116	623	22	2	2589	2	ATP10B	5	160047926	Missense_Mutation	SNP	C	TCGA-DB-5277-01A-01D-1468-08	11640098	160047926	20867334	21	1124											
HIST1H4C	8364	broad.mit.edu	37	6	26104189	26104189	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr6:26104189G>A	ENST00000377803.2	+	1	86	c.14G>A	c.(13-15)gGc>gAc	p.G5D		NM_003542.3	NP_003533.1	P62805	H4_HUMAN	histone cluster 1, H4c	5					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1)	7						TCTGGTCGCGGCAAAGGCGGA	0.502													3	102					0	0	1	0	0	A	26104189	G	A	26104189	3	1	26	1	0	0	0	0	1	0	0	0	7208	1203	42	2	16	2	HIST1H4C	6	26104189	Missense_Mutation	SNP	G	TCGA-DB-5277-01A-01D-1468-08		26104189	145010878	22	1125											
PHF1	5252	broad.mit.edu	37	6	33383710	33383710	+	Silent	SNP	C	C	A			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr6:33383710C>A	ENST00000374516.3	+	15	1810	c.1539C>A	c.(1537-1539)ccC>ccA	p.P513P	PHF1_ENST00000374512.3_3'UTR	NM_024165.2	NP_077084.1	O43189	PHF1_HUMAN	PHD finger protein 1	513					chromatin modification	nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19		Ovarian(999;0.0443)				GCTCAGCACCCCCTTCTCCCC	0.607													5	218					0.0215528	0.022296	1	1	0	A	33383710	C	A	33383710	2	1	26	1	0	0	0	0	0	0	0	1	11868	610	22	5		5	PHF1	6	33383710	Silent	SNP	C	TCGA-DB-5277-01A-01D-1468-08	7279521	33383710	137731357	23	1126											
CAPN11	11131	broad.mit.edu	37	6	44143869	44143869	+	Missense_Mutation	SNP	C	C	G			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr6:44143869C>G	ENST00000398776.1	+	8	934	c.896C>G	c.(895-897)tCt>tGt	p.S299C	CAPN11_ENST00000542245.1_Missense_Mutation_p.S299C	NM_007058.3	NP_008989.2	Q9UMQ6	CAN11_HUMAN	calpain 11	299	Calpain catalytic.				proteolysis	acrosomal vesicle	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			breast(3)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	36	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CACGCTTACTCTGTGACTGGC	0.542													17	31					0	0	1	0	0	G	44143869	C	G	44143869	3	3	26	1	0	0	0	0	1	0	0	0	2642	913	32	4	926	4	CAPN11	6	44143869	Missense_Mutation	SNP	C	TCGA-DB-5277-01A-01D-1468-08	10760159	44143869	126971198	24	1127											
HTR1B	3351	broad.mit.edu	37	6	78172156	78172156	+	Missense_Mutation	SNP	G	G	T			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr6:78172156G>T	ENST00000369947.2	-	1	1334	c.965C>A	c.(964-966)gCc>gAc	p.A322D		NM_000863.1	NP_000854.1	P28222	5HT1B_HUMAN	5-hydroxytryptamine (serotonin) receptor 1B, G protein-coupled	322					G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cAMP biosynthetic process|synaptic transmission	integral to plasma membrane	protein binding|serotonin receptor activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|prostate(2)|upper_aerodigestive_tract(2)	25		all_cancers(76;0.0867)|Acute lymphoblastic leukemia(125;0.00119)|all_hematologic(105;0.0332)		BRCA - Breast invasive adenocarcinoma(397;0.205)	Almotriptan(DB00918)|Dexfenfluramine(DB01191)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Pindolol(DB00960)|Propranolol(DB00571)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Venlafaxine(DB00285)|Zolmitriptan(DB00315)	CACAATAAAGGCTCCCAAAAT	0.507													103	119					1.22879e-52	1.31656e-52	1	1	0	T	78172156	G	T	78172156	3	4	26	1	0	0	0	0	1	0	0	0	7481	1203	42	5	211	5	HTR1B	6	78172156	Missense_Mutation	SNP	G	TCGA-DB-5277-01A-01D-1468-08	34028287	78172156	92942911	25	1128											
TPBG	7162	broad.mit.edu	37	6	83075656	83075656	+	Silent	SNP	G	G	A			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr6:83075656G>A	ENST00000369750.3	+	2	1595	c.978G>A	c.(976-978)ccG>ccA	p.P326P	TPBG_ENST00000535040.1_Silent_p.P326P|TPBG_ENST00000543496.1_Silent_p.P326P			Q13641	TPBG_HUMAN	trophoblast glycoprotein	326	LRRCT.				cell adhesion	integral to plasma membrane				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	15		all_cancers(76;0.000805)|Acute lymphoblastic leukemia(125;3.85e-06)|all_hematologic(105;0.0017)|all_epithelial(107;0.0897)		BRCA - Breast invasive adenocarcinoma(397;0.107)		GTGCATATCCGGAAAAAATGA	0.542													47	105					0	0	1	0	0	A	83075656	G	A	83075656	2	1	26	1	0	0	0	0	0	0	0	1	16455	1103	39	1		1	TPBG	6	83075656	Silent	SNP	G	TCGA-DB-5277-01A-01D-1468-08	4903500	83075656	88039411	26	1129											
TRPV5	56302	broad.mit.edu	37	7	142626123	142626123	+	Missense_Mutation	SNP	A	A	G			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr7:142626123A>G	ENST00000265310.1	-	5	928	c.580T>C	c.(580-582)Tcc>Ccc	p.S194P	TRPV5_ENST00000442623.1_Missense_Mutation_p.S194P	NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	194					protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					TTACCCAGGGAGTCCTGGGCC	0.612													9	42					0	0	1	0	0	G	142626123	A	G	142626123	3	3	26	1	0	0	0	0	1	0	0	0	16660	304	11	3	1653	3	TRPV5	7	142626123	Missense_Mutation	SNP	A	TCGA-DB-5277-01A-01D-1468-08		142626123	16512540	27	1130											
CDH17	1015	broad.mit.edu	37	8	95142932	95142932	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr8:95142932G>A	ENST00000027335.3	-	17	2444	c.2320C>T	c.(2320-2322)Cgg>Tgg	p.R774W	CDH17_ENST00000441892.2_Intron|CDH17_ENST00000450165.2_Missense_Mutation_p.R774W	NM_004063.3	NP_004054.3	Q12864	CAD17_HUMAN	cadherin 17, LI cadherin (liver-intestine)	774	Cadherin 7.					integral to membrane	calcium ion binding	p.R774W(1)		NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			CCTGCTGGCCGGAAACAACTT	0.448													30	119					0	0	1	0	0	A	95142932	G	A	95142932	3	1	26	1	0	0	0	0	1	0	0	0	3124	1115	39	1	186	1	CDH17	8	95142932	Missense_Mutation	SNP	G	TCGA-DB-5277-01A-01D-1468-08		95142932	51221090	28	1131											
RNF139	11236	broad.mit.edu	37	8	125498877	125498880	+	Frame_Shift_Del	DEL	TTTA	TTTA	-			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr8:125498877_125498880delTTTA	ENST00000303545.3	+	2	1359_1362	c.987_990delTTTA	c.(985-990)gttttafs	p.VL329fs		NM_007218.3	NP_009149.2	Q8WU17	RN139_HUMAN	ring finger protein 139	329					negative regulation of cell proliferation|regulation of protein ubiquitination	endoplasmic reticulum membrane|integral to membrane	protein binding|receptor activity|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(4)|prostate(1)|skin(1)	20	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			TTGCACCTGTTTTATTTTTTATTT	0.412													53	506	---	---	---	---						-	125498880	TTTA	-	125498877	7	5	26	1	0	1	0	1	0	0	0	0	13494	1828	64	0	993	0	RNF139	8	125498877	Frame_Shift_Del	DEL	TTTA	TCGA-DB-5277-01A-01D-1468-08	30355945	125498877	20865145	29	1132											
AKR1E2	83592	broad.mit.edu	37	10	4881968	4881968	+	Silent	SNP	C	C	T			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr10:4881968C>T	ENST00000298375.7	+	6	701	c.630C>T	c.(628-630)tgC>tgT	p.C210C	AKR1E2_ENST00000525281.1_Intron|AKR1E2_ENST00000334019.4_Intron|AKR1E2_ENST00000345253.5_Intron|AKR1E2_ENST00000532248.1_Intron	NM_001040177.2	NP_001035267.1	Q96JD6	AKCL2_HUMAN	aldo-keto reductase family 1, member E2	210						cytoplasm	1,5-anhydro-D-fructose reductase activity	p.C210C(1)		NS(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)	15						TCAGTTTTTGCCAATCCAGAG	0.433													4	131					0	0	1	0	0	T	4881968	C	T	4881968	2	4	26	1	0	0	0	0	0	0	0	1	471	747	26	2		2	AKR1E2	10	4881968	Silent	SNP	C	TCGA-DB-5277-01A-01D-1468-08		4881968	130652779	30	1133											
ZNF438	220929	broad.mit.edu	37	10	31138346	31138346	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr10:31138346G>A	ENST00000452305.1	-	8	1521	c.958C>T	c.(958-960)Ccc>Tcc	p.P320S	ZNF438_ENST00000375311.1_5'UTR|ZNF438_ENST00000361310.3_Missense_Mutation_p.P330S|ZNF438_ENST00000413025.1_Missense_Mutation_p.P330S|ZNF438_ENST00000444692.2_Missense_Mutation_p.P320S|ZNF438_ENST00000442986.1_Missense_Mutation_p.P330S|ZNF438_ENST00000331737.6_Missense_Mutation_p.P320S|ZNF438_ENST00000436087.2_Missense_Mutation_p.P330S|ZNF438_ENST00000538351.2_Missense_Mutation_p.P281S	NM_001143770.1	NP_001137242.1	Q7Z4V0	ZN438_HUMAN	zinc finger protein 438	330					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(15)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(175;0.0587)				GTGGTGGAGGGTATCTTATCA	0.463													24	226					0	0	1	0	0	A	31138346	G	A	31138346	3	1	26	1	0	0	0	0	1	0	0	0	17967	1261	44	2	1506	2	ZNF438	10	31138346	Missense_Mutation	SNP	G	TCGA-DB-5277-01A-01D-1468-08	26256378	31138346	104396401	31	1134											
CHST15	51363	broad.mit.edu	37	10	125801890	125801890	+	Silent	SNP	G	G	A	rs150036804		TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr10:125801890G>A	ENST00000346248.5	-	4	1602	c.960C>T	c.(958-960)gcC>gcT	p.A320A	CHST15_ENST00000435907.1_Silent_p.A320A|CHST15_ENST00000421115.1_Silent_p.A320A	NM_015892.4	NP_056976.2	Q7LFX5	CHSTF_HUMAN	carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15	320					hexose biosynthetic process	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity			endometrium(4)|kidney(1)|large_intestine(11)|lung(6)|ovary(3)|stomach(1)	26						TCTGGTGTGCGGCCAGGTCAA	0.527													4	78					0	0	1	0	0	A	125801890	G	A	125801890	2	1	26	1	0	0	0	0	0	0	0	1	3425	1103	39	1		1	CHST15	10	125801890	Silent	SNP	G	TCGA-DB-5277-01A-01D-1468-08	94663544	125801890	9732857	32	1135											
TRIM68	55128	broad.mit.edu	37	11	4626616	4626616	+	Missense_Mutation	SNP	A	A	G			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr11:4626616A>G	ENST00000300747.5	-	2	408	c.119T>C	c.(118-120)cTc>cCc	p.L40P		NM_018073.6	NP_060543.5	Q6AZZ1	TRI68_HUMAN	tripartite motif containing 68	40					protein autoubiquitination|regulation of androgen receptor signaling pathway	Golgi apparatus|nucleolus|perinuclear region of cytoplasm	androgen receptor binding|histone acetyltransferase binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	15		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;9.49e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192)		GAGTCCAGAGAGACAGCTGTG	0.572													46	21					0	0	1	0	0	G	4626616	A	G	4626616	3	3	26	1	0	0	0	0	1	0	0	0	16602	304	11	3	1362	3	TRIM68	11	4626616	Missense_Mutation	SNP	A	TCGA-DB-5277-01A-01D-1468-08		4626616	130379900	33	1136											
MS4A7	58475	broad.mit.edu	37	11	60150653	60150653	+	Silent	SNP	C	C	T			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr11:60150653C>T	ENST00000358246.1	+	2	232	c.39C>T	c.(37-39)agC>agT	p.S13S	MS4A7_ENST00000530234.2_Silent_p.S13S|MS4A7_ENST00000300184.3_Silent_p.S13S|MS4A14_ENST00000531787.1_Intron|MS4A7_ENST00000534016.1_Silent_p.S13S	NM_206938.1|NM_206940.1	NP_996821.1|NP_996823.1	Q9GZW8	MS4A7_HUMAN	membrane-spanning 4-domains, subfamily A, member 7	13						integral to membrane	receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(8)|ovary(1)|skin(1)	20						TTTCTCACAGCTTTACACCAA	0.463													5	79					0	0	1	0	0	T	60150653	C	T	60150653	2	4	26	1	0	0	0	0	0	0	0	1	9915	796	28	2		2	MS4A7	11	60150653	Silent	SNP	C	TCGA-DB-5277-01A-01D-1468-08	55524037	60150653	74855863	34	1137											
NUMA1	4926	broad.mit.edu	37	11	71720101	71720101	+	Missense_Mutation	SNP	T	T	C			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr11:71720101T>C	ENST00000393695.3	-	19	5301	c.4970A>G	c.(4969-4971)cAt>cGt	p.H1657R	NUMA1_ENST00000351960.6_Missense_Mutation_p.H521R|NUMA1_ENST00000358965.6_Missense_Mutation_p.H1643R	NM_006185.2	NP_006176.2	Q14980	NUMA1_HUMAN	nuclear mitotic apparatus protein 1	1657					G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						CTGTAGCTCATGGCCCAGCCG	0.592			T	RARA	APL								26	43					0	0	1	0	0	C	71720101	T	C	71720101	3	2	26	1	0	0	0	0	1	0	0	0	10798	1464	51	3	1413	3	NUMA1	11	71720101	Missense_Mutation	SNP	T	TCGA-DB-5277-01A-01D-1468-08	11569448	71720101	63286415	35	1138											
RPAP3	79657	broad.mit.edu	37	12	48096531	48096531	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr12:48096531C>T	ENST00000005386.3	-	2	208	c.93G>A	c.(91-93)tgG>tgA	p.W31*	RPAP3_ENST00000432584.3_Intron|RPAP3_ENST00000380650.4_Nonsense_Mutation_p.W31*	NM_024604.2	NP_078880.2	Q9H6T3	RPAP3_HUMAN	RNA polymerase II associated protein 3	31							binding			endometrium(2)|large_intestine(4)|liver(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16	Lung SC(27;0.192)					TGTCTTTTTCCCAGTTTTCTA	0.323													8	41					0	0	1	0	0	T	48096531	C	T	48096531	4	4	26	1	0	0	0	0	0	1	0	0	13595	624	22	2	1968	2	RPAP3	12	48096531	Nonsense_Mutation	SNP	C	TCGA-DB-5277-01A-01D-1468-08		48096531	85755364	36	1139											
MBD6	114785	broad.mit.edu	37	12	57919602	57919602	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr12:57919602C>T	ENST00000355673.3	+	6	1207	c.851C>T	c.(850-852)cCt>cTt	p.P284L	MBD6_ENST00000431731.2_Missense_Mutation_p.P284L	NM_052897.3	NP_443129.3	Q96DN6	MBD6_HUMAN	methyl-CpG binding domain protein 6	284	Pro-rich.					chromosome|nucleus	chromatin binding|DNA binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						CACCCTGGTCCTGCCTCTCAG	0.672													7	22					0	0	1	0	0	T	57919602	C	T	57919602	3	4	26	1	0	0	0	0	1	0	0	0	9398	681	24	2	865	2	MBD6	12	57919602	Missense_Mutation	SNP	C	TCGA-DB-5277-01A-01D-1468-08	9823071	57919602	75932293	37	1140											
SRGAP1	57522	broad.mit.edu	37	12	64437269	64437269	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr12:64437269G>A	ENST00000355086.3	+	6	1239	c.715G>A	c.(715-717)Gca>Aca	p.A239T	SRGAP1_ENST00000357825.3_Missense_Mutation_p.A239T|SRGAP1_ENST00000543397.1_Missense_Mutation_p.A199T|RP11-196H14.2_ENST00000535594.1_RNA	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	239					axon guidance	cytosol				breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		ATCAATTAAGGCACGGAACGA	0.348													42	9					0	0	1	0	0	A	64437269	G	A	64437269	3	1	26	1	0	0	0	0	1	0	0	0	15201	1203	42	2	737	2	SRGAP1	12	64437269	Missense_Mutation	SNP	G	TCGA-DB-5277-01A-01D-1468-08	6517667	64437269	69414626	38	1141											
PTPRR	5801	broad.mit.edu	37	12	71286551	71286551	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr12:71286551C>T	ENST00000283228.2	-	2	717	c.265G>A	c.(265-267)Gca>Aca	p.A89T		NM_002849.3	NP_002840.2	Q15256	PTPRR_HUMAN	protein tyrosine phosphatase, receptor type, R	89					in utero embryonic development	cell surface|Golgi apparatus|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)		GGGTCATATGCGGGTCTAGGA	0.453													4	140					0	0	1	0	0	T	71286551	C	T	71286551	3	4	26	1	0	0	0	0	1	0	0	0	12862	768	27	1	1760	1	PTPRR	12	71286551	Missense_Mutation	SNP	C	TCGA-DB-5277-01A-01D-1468-08	6849282	71286551	62565344	39	1142											
NAP1L1	4673	broad.mit.edu	37	12	76453623	76453623	+	Silent	SNP	C	C	T			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr12:76453623C>T	ENST00000261182.8	-	6	870	c.384G>A	c.(382-384)acG>acA	p.T128T	NAP1L1_ENST00000548044.1_Silent_p.T87T|NAP1L1_ENST00000431879.3_Intron|NAP1L1_ENST00000393263.3_Silent_p.T128T|NAP1L1_ENST00000552342.1_Silent_p.T128T|NAP1L1_ENST00000544816.1_5'UTR|NAP1L1_ENST00000547773.1_Silent_p.T65T|NAP1L1_ENST00000542344.1_Silent_p.T87T|NAP1L1_ENST00000535020.2_Silent_p.T128T|NAP1L1_ENST00000549596.1_Silent_p.T128T	NM_004537.4|NM_139207.2	NP_004528.1|NP_631946.1	P55209	NP1L1_HUMAN	nucleosome assembly protein 1-like 1	128					DNA replication|nucleosome assembly|positive regulation of cell proliferation	chromatin assembly complex|melanosome	protein binding			kidney(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|skin(1)	9		Colorectal(145;0.09)				ATTCTTCTTCCGTAGGTTCAT	0.308													41	19					0	0	1	0	0	T	76453623	C	T	76453623	2	4	26	1	0	0	0	0	0	0	0	1	10204	639	23	1		1	NAP1L1	12	76453623	Silent	SNP	C	TCGA-DB-5277-01A-01D-1468-08	5167072	76453623	57398272	40	1143											
FLT1	2321	broad.mit.edu	37	13	29008225	29008225	+	Missense_Mutation	SNP	A	A	G			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr13:29008225A>G	ENST00000282397.4	-	5	897	c.646T>C	c.(646-648)Tat>Cat	p.Y216H	FLT1_ENST00000541932.1_Missense_Mutation_p.Y216H|FLT1_ENST00000539099.1_Missense_Mutation_p.Y216H	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	216					cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	TTTGTCTTATACAAATGCCCA	0.388													3	139					0	0	1	0	0	G	29008225	A	G	29008225	3	3	26	1	0	0	0	0	1	0	0	0	5974	391	14	3	3737	3	FLT1	13	29008225	Missense_Mutation	SNP	A	TCGA-DB-5277-01A-01D-1468-08		29008225	86161653	41	1144											
IPO4	79711	broad.mit.edu	37	14	24652223	24652223	+	Missense_Mutation	SNP	C	C	A			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr14:24652223C>A	ENST00000354464.6	-	23	2556	c.2380G>T	c.(2380-2382)Gct>Tct	p.A794S	RP11-468E2.2_ENST00000561419.1_3'UTR	NM_024658.3	NP_078934.3	Q8TEX9	IPO4_HUMAN	importin 4	794					intracellular protein transport	cytoplasm|nucleus	protein binding|protein transporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|stomach(2)|urinary_tract(1)	33				GBM - Glioblastoma multiforme(265;0.0087)		CAGAGCTCAGCGAGGCGCCCA	0.687													4	117					1	1	1	1	0	A	24652223	C	A	24652223	3	1	26	1	0	0	0	0	1	0	0	0	7839	768	27	5	897	5	IPO4	14	24652223	Missense_Mutation	SNP	C	TCGA-DB-5277-01A-01D-1468-08		24652223	82697317	42	1145											
TTLL5	23093	broad.mit.edu	37	14	76241856	76241856	+	Silent	SNP	A	A	G			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr14:76241856A>G	ENST00000298832.9	+	22	2371	c.2166A>G	c.(2164-2166)gcA>gcG	p.A722A	TTLL5_ENST00000556893.1_Silent_p.A273A|TTLL5_ENST00000557636.1_Silent_p.A736A|TTLL5_ENST00000555422.1_3'UTR|TTLL5_ENST00000554510.1_Silent_p.A231A	NM_015072.4	NP_055887.3	Q6EMB2	TTLL5_HUMAN	tubulin tyrosine ligase-like family, member 5	722					protein modification process|transcription, DNA-dependent	centrosome|cilium|microtubule basal body|nucleus	tubulin-tyrosine ligase activity			NS(2)|breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(3)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	50				BRCA - Breast invasive adenocarcinoma(234;0.029)		TCAAGCGAGCATCAAATAACC	0.463													130	175					0	0	1	0	0	G	76241856	A	G	76241856	2	3	26	1	0	0	0	0	0	0	0	1	16792	204	8	3		3	TTLL5	14	76241856	Silent	SNP	A	TCGA-DB-5277-01A-01D-1468-08	51589633	76241856	31107684	43	1146											
BDKRB2	624	broad.mit.edu	37	14	96706767	96706767	+	Silent	SNP	A	A	G			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr14:96706767A>G	ENST00000542454.2	+	3	3109	c.21A>G	c.(19-21)caA>caG	p.Q7Q	RP11-404P21.8_ENST00000553811.1_Intron|BDKRB2_ENST00000306005.3_Silent_p.Q34Q|BDKRB2_ENST00000539359.1_Silent_p.Q7Q|BDKRB2_ENST00000554311.1_Silent_p.Q34Q			P30411	BKRB2_HUMAN	bradykinin receptor B2	34					arachidonic acid secretion|elevation of cytosolic calcium ion concentration|transmembrane receptor protein tyrosine kinase signaling pathway	endosome|integral to plasma membrane	bradykinin receptor activity|phosphatidylinositol phospholipase C activity|protease binding|protein heterodimerization activity|type 1 angiotensin receptor binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|lung(7)|ovary(3)|skin(1)	24		all_cancers(154;0.0678)|Melanoma(154;0.155)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.226)		TCACCTTGCAAGGGCCCACTC	0.567													6	459					0	0	1	0	0	G	96706767	A	G	96706767	2	3	26	1	0	0	0	0	0	0	0	1	1391	69	3	3		3	BDKRB2	14	96706767	Silent	SNP	A	TCGA-DB-5277-01A-01D-1468-08	20464911	96706767	10642773	44	1147											
ELL3	80237	broad.mit.edu	37	15	44068328	44068328	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr15:44068328C>T	ENST00000319359.3	-	3	831	c.190G>A	c.(190-192)Ggt>Agt	p.G64S	RP11-296A16.1_ENST00000417761.2_3'UTR	NM_025165.2	NP_079441.1	Q9HB65	ELL3_HUMAN	elongation factor RNA polymerase II-like 3	64					positive regulation of transcription elongation, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|spermatogenesis|transcription elongation from RNA polymerase II promoter	transcription elongation factor complex				cervix(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1)	13		all_cancers(109;7.57e-15)|all_epithelial(112;3.51e-12)|Lung NSC(122;4.72e-08)|all_lung(180;4.9e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;7.81e-07)		CAGGACCAACCAGGGCCTGGG	0.632													31	42					0	0	1	0	0	T	44068328	C	T	44068328	3	4	26	1	0	0	0	0	1	0	0	0	5092	594	21	2	1039	2	ELL3	15	44068328	Missense_Mutation	SNP	C	TCGA-DB-5277-01A-01D-1468-08		44068328	58463064	45	1148											
FBN1	2200	broad.mit.edu	37	15	48729544	48729544	+	Silent	SNP	G	G	T	rs112989722		TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr15:48729544G>T	ENST00000316623.5	-	52	6809	c.6354C>A	c.(6352-6354)atC>atA	p.I2118I		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	2118					heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		CAGGTCCCACGATGATCCCAC	0.423													32	9					4.3181e-19	4.5721e-19	1	1	0	T	48729544	G	T	48729544	2	4	26	1	0	0	0	0	0	0	0	1	5735	1048	37	5		5	FBN1	15	48729544	Silent	SNP	G	TCGA-DB-5277-01A-01D-1468-08	4661216	48729544	53801848	46	1149											
ZC3H7A	29066	broad.mit.edu	37	16	11857362	11857362	+	Silent	SNP	C	C	G			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr16:11857362C>G	ENST00000396516.2	-	15	2171	c.1974G>C	c.(1972-1974)ctG>ctC	p.L658L	ZC3H7A_ENST00000355758.4_Silent_p.L658L			Q8IWR0	Z3H7A_HUMAN	zinc finger CCCH-type containing 7A	658						nucleus	nucleic acid binding|zinc ion binding			breast(2)|endometrium(3)|kidney(5)|large_intestine(2)|liver(1)|lung(3)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(2)	25						TCCAGACTTTCAGTTCCACAA	0.418													5	197					0	0	1	0	0	G	11857362	C	G	11857362	2	3	26	1	0	0	0	0	0	0	0	1	17631	813	29	5		5	ZC3H7A	16	11857362	Silent	SNP	C	TCGA-DB-5277-01A-01D-1468-08		11857362	78497391	47	1150											
PELP1	27043	broad.mit.edu	37	17	4578457	4578457	+	Silent	SNP	C	C	G			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr17:4578457C>G	ENST00000301396.4	-	11	1848	c.1623G>C	c.(1621-1623)ctG>ctC	p.L541L	PELP1_ENST00000269230.7_Silent_p.L395L|PELP1_ENST00000574876.1_Silent_p.L397L|PELP1_ENST00000572293.1_Silent_p.L447L|PELP1_ENST00000436683.2_Silent_p.L250L			Q8IZL8	PELP1_HUMAN	proline, glutamate and leucine rich protein 1	397					transcription, DNA-dependent	cytoplasm|MLL1 complex	protein binding			breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	15						GGCGGCCGATCAGGATCCCAA	0.607													7	22					0	0	1	0	0	G	4578457	C	G	4578457	2	3	26	1	0	0	0	0	0	0	0	1	11772	813	29	5		5	PELP1	17	4578457	Silent	SNP	C	TCGA-DB-5277-01A-01D-1468-08		4578457	76616753	48	1151											
TP53	7157	broad.mit.edu	37	17	7577574	7577574	+	Missense_Mutation	SNP	T	T	C			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr17:7577574T>C	ENST00000420246.2	-	7	839	c.707A>G	c.(706-708)tAc>tGc	p.Y236C	TP53_ENST00000269305.4_Missense_Mutation_p.Y236C|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000359597.4_Missense_Mutation_p.Y236C|TP53_ENST00000445888.2_Missense_Mutation_p.Y236C|TP53_ENST00000455263.2_Missense_Mutation_p.Y236C|TP53_ENST00000413465.2_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	0.572		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)			86	10					0	0	1	0	0	C	7577574	T	C	7577574	3	2	26	1	0	0	0	0	1	0	0	0	16442	1638	57	3	583	3	TP53	17	7577574	Missense_Mutation	SNP	T	TCGA-DB-5277-01A-01D-1468-08	2999117	7577574	73617636	49	1152											
MYH13	8735	broad.mit.edu	37	17	10213033	10213033	+	Missense_Mutation	SNP	T	T	C			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr17:10213033T>C	ENST00000418404.3	-	33	4934	c.4771A>G	c.(4771-4773)Aaa>Gaa	p.K1591E	MYH13_ENST00000252172.4_Missense_Mutation_p.K1591E|RP11-401O9.4_ENST00000609088.1_RNA			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1591					muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						CTGTTTCTTTTTAGCTGCTCG	0.562													3	16					0	0	1	0	0	C	10213033	T	C	10213033	3	2	26	1	0	0	0	0	1	0	0	0	10080	1850	64	3	1077	3	MYH13	17	10213033	Missense_Mutation	SNP	T	TCGA-DB-5277-01A-01D-1468-08	2635459	10213033	70982177	50	1153											
NCOR1	9611	broad.mit.edu	37	17	15974805	15974805	+	Missense_Mutation	SNP	T	T	C			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr17:15974805T>C	ENST00000268712.3	-	30	4327	c.4070A>G	c.(4069-4071)cAa>cGa	p.Q1357R	NCOR1_ENST00000395851.1_Missense_Mutation_p.Q1373R|NCOR1_ENST00000395857.3_Intron	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	1357	Interaction with ETO.				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		TAAAATATCTTGCCTTGGAAT	0.453													253	49					0	0	1	0	0	C	15974805	T	C	15974805	3	2	26	1	0	0	0	0	1	0	0	0	10282	1812	63	3	3320	3	NCOR1	17	15974805	Missense_Mutation	SNP	T	TCGA-DB-5277-01A-01D-1468-08	5761772	15974805	65220405	51	1154											
ACLY	47	broad.mit.edu	37	17	40030158	40030158	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr17:40030158G>A	ENST00000352035.2	-	23	2678	c.2548C>T	c.(2548-2550)Cag>Tag	p.Q850*	ACLY_ENST00000537919.1_Nonsense_Mutation_p.Q579*|ACLY_ENST00000393896.2_Nonsense_Mutation_p.Q840*|ACLY_ENST00000590151.1_Nonsense_Mutation_p.Q850*|ACLY_ENST00000353196.1_Nonsense_Mutation_p.Q840*	NM_001096.2	NP_001087.2	P53396	ACLY_HUMAN	ATP citrate lyase	850					ATP catabolic process|cellular carbohydrate metabolic process|citrate metabolic process|coenzyme A metabolic process|energy reserve metabolic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	citrate lyase complex|cytosol|nucleus	ATP binding|ATP citrate synthase activity|citrate (pro-3S)-lyase activity|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity		NTN1/ACLY(2)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	28		Breast(137;0.000143)				ATGAGCTCCTGTCCTCGCTCA	0.592													22	89					0	0	1	0	0	A	40030158	G	A	40030158	4	1	26	1	0	0	0	0	0	1	0	0	143	1386	48	2	785	2	ACLY	17	40030158	Nonsense_Mutation	SNP	G	TCGA-DB-5277-01A-01D-1468-08	24055353	40030158	41165052	52	1155											
LPO	4025	broad.mit.edu	37	17	56344812	56344812	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr17:56344812G>A	ENST00000262290.4	+	12	2112	c.1796G>A	c.(1795-1797)gGt>gAt	p.G599D	LPO_ENST00000421678.2_Missense_Mutation_p.G516D|LPO_ENST00000543544.1_Missense_Mutation_p.G540D|LPO_ENST00000582328.1_Missense_Mutation_p.G516D	NM_006151.2	NP_006142.1	P22079	PERL_HUMAN	lactoperoxidase	599					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30						AAGTTACTGGGTCTCTACGGG	0.572													65	65					0	0	1	0	0	A	56344812	G	A	56344812	3	1	26	1	0	0	0	0	1	0	0	0	8967	1261	44	2	1838	2	LPO	17	56344812	Missense_Mutation	SNP	G	TCGA-DB-5277-01A-01D-1468-08	16314654	56344812	24850398	53	1156											
MPO	4353	broad.mit.edu	37	17	56355208	56355208	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr17:56355208C>T	ENST00000340482.3	-	6	1456	c.1280G>A	c.(1279-1281)cGc>cAc	p.R427H	MPO_ENST00000225275.3_Missense_Mutation_p.R395H|MPO_ENST00000578493.1_5'UTR			P05164	PERM_HUMAN	myeloperoxidase	395					anti-apoptosis|hydrogen peroxide catabolic process|low-density lipoprotein particle remodeling	extracellular space|lysosome|nucleus|stored secretory granule	chromatin binding|heme binding|heparin binding|peroxidase activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	46					Cefdinir(DB00535)	GCAGGGGATGCGCGCTGAGCG	0.617													5	90					0	0	1	0	0	T	56355208	C	T	56355208	3	4	26	1	0	0	0	0	1	0	0	0	9781	768	27	1	1077	1	MPO	17	56355208	Missense_Mutation	SNP	C	TCGA-DB-5277-01A-01D-1468-08	10396	56355208	24840002	54	1157											
ZNF750	79755	broad.mit.edu	37	17	80789719	80789719	+	Silent	SNP	G	G	C			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr17:80789719G>C	ENST00000269394.3	-	2	1445	c.612C>G	c.(610-612)ggC>ggG	p.G204G	TBCD_ENST00000397466.2_Intron|ZNF750_ENST00000572562.1_Intron|TBCD_ENST00000539345.2_Intron|TBCD_ENST00000355528.4_Intron	NM_024702.2	NP_078978.2	Q32MQ0	ZN750_HUMAN	zinc finger protein 750	204						intracellular	zinc ion binding			NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	31	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)			TCCAGGGGTAGCCAGGAGTGT	0.577													11	99					0	0	1	0	0	C	80789719	G	C	80789719	2	2	26	1	0	0	0	0	0	0	0	1	18182	958	34	4		4	ZNF750	17	80789719	Silent	SNP	G	TCGA-DB-5277-01A-01D-1468-08	24434511	80789719	405491	55	1158											
MOCOS	55034	broad.mit.edu	37	18	33785151	33785151	+	Missense_Mutation	SNP	A	A	T			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr18:33785151A>T	ENST00000261326.5	+	6	1151	c.1130A>T	c.(1129-1131)gAt>gTt	p.D377V		NM_017947.2	NP_060417.2	Q96EN8	MOCOS_HUMAN	molybdenum cofactor sulfurase	377					Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol	lyase activity|Mo-molybdopterin cofactor sulfurase activity|molybdenum ion binding|pyridoxal phosphate binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|liver(1)|lung(15)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43					Pyridoxal Phosphate(DB00114)	ATTTACAGCGATTCTGAGTTC	0.498													6	182					0	0	1	0	0	T	33785151	A	T	33785151	3	4	26	1	0	0	0	0	1	0	0	0	9738	333	12	4	1152	4	MOCOS	18	33785151	Missense_Mutation	SNP	A	TCGA-DB-5277-01A-01D-1468-08		33785151	44292097	56	1159											
MATK	4145	broad.mit.edu	37	19	3784173	3784173	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr19:3784173G>A	ENST00000310132.6	-	5	709	c.311C>T	c.(310-312)gCg>gTg	p.A104V	MATK_ENST00000395045.2_Missense_Mutation_p.A105V|MATK_ENST00000585778.1_Missense_Mutation_p.A104V|MATK_ENST00000395040.2_Missense_Mutation_p.A63V	NM_139355.2	NP_647612.1	P42679	MATK_HUMAN	megakaryocyte-associated tyrosine kinase	104	SH3.				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)		CTCCCGCAGCGCCCCAGCTGC	0.682													21	21					0	0	1	0	0	A	3784173	G	A	3784173	3	1	26	1	0	0	0	0	1	0	0	0	9382	1087	38	1	1252	1	MATK	19	3784173	Missense_Mutation	SNP	G	TCGA-DB-5277-01A-01D-1468-08		3784173	55344810	57	1160											
CIB3	117286	broad.mit.edu	37	19	16280488	16280488	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr19:16280488C>T	ENST00000269878.4	-	3	200	c.151G>A	c.(151-153)Gat>Aat	p.D51N	CIB3_ENST00000541493.1_Intron|CIB3_ENST00000379859.3_Intron	NM_054113.2	NP_473454.1	Q96Q77	CIB3_HUMAN	calcium and integrin binding family member 3	51							calcium ion binding	p.D51N(1)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	16						ACCTTCACATCGGGGCAGGTG	0.562													5	83					0	0	1	0	0	T	16280488	C	T	16280488	3	4	26	1	0	0	0	0	1	0	0	0	3444	884	31	1	428	1	CIB3	19	16280488	Missense_Mutation	SNP	C	TCGA-DB-5277-01A-01D-1468-08	12496315	16280488	42848495	58	1161											
SBSN	374897	broad.mit.edu	37	19	36015811	36015811	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr19:36015811C>T	ENST00000452271.2	-	2	1682	c.1654G>A	c.(1654-1656)Gga>Aga	p.G552R	SBSN_ENST00000518157.1_Missense_Mutation_p.G209R	NM_001166034.1	NP_001159506.1	Q6UWP8	SBSN_HUMAN	suprabasin	209						extracellular region				large_intestine(5)|lung(6)|ovary(1)|prostate(2)	14	all_lung(56;1.62e-08)|Lung NSC(56;2.47e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			CTGGAAGATCCGCTTTGATGG	0.612													8	24					0	0	1	0	0	T	36015811	C	T	36015811	3	4	26	1	0	0	0	0	1	0	0	0	13917	661	23	1	130	1	SBSN	19	36015811	Missense_Mutation	SNP	C	TCGA-DB-5277-01A-01D-1468-08	19735323	36015811	23113172	59	1162											
ZNF343	79175	broad.mit.edu	37	20	2464637	2464637	+	Missense_Mutation	SNP	G	G	C			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr20:2464637G>C	ENST00000278772.4	-	6	1457	c.970C>G	c.(970-972)Cct>Gct	p.P324A	RP4-734P14.4_ENST00000461548.1_Intron	NM_001282495.1|NM_001282496.1|NM_024325.4	NP_001269424.1|NP_001269425.1|NP_077301.4	Q6P1L6	ZN343_HUMAN	zinc finger protein 343	324					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|skin(4)|upper_aerodigestive_tract(1)	25						CACAAATAAGGCTTCTCTTCT	0.493													16	51					0	0	1	0	0	C	2464637	G	C	2464637	3	2	26	1	0	0	0	0	1	0	0	0	17915	1203	42	5	833	5	ZNF343	20	2464637	Missense_Mutation	SNP	G	TCGA-DB-5277-01A-01D-1468-08		2464637	60560883	60	1163											
SNRPB2	6629	broad.mit.edu	37	20	16712312	16712312	+	Splice_Site	SNP	G	G	C			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr20:16712312G>C	ENST00000246071.6	+	2	181		c.e2-1		SNRPB2_ENST00000377943.5_Splice_Site|SNRPB2_ENST00000478522.1_Splice_Site	NM_003092.4	NP_003083.1	P08579	RU2B_HUMAN	small nuclear ribonucleoprotein polypeptide B							catalytic step 2 spliceosome|nucleoplasm|U2 snRNP	nucleotide binding|protein binding|RNA binding			large_intestine(2)|lung(2)|urinary_tract(1)	5						TTTTATAACAGATTTTTTACT	0.303													19	104					0	0	1	0	0	C	16712312	G	C	16712312	5	2	26	1	0	0	0	0	0	0	1	0	14916	956	33	4		4	SNRPB2	20	16712312	Splice_Site	SNP	G	TCGA-DB-5277-01A-01D-1468-08	14247675	16712312	46313208	61	1164											
CDH4	1002	broad.mit.edu	37	20	60419770	60419770	+	Missense_Mutation	SNP	C	C	A			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr20:60419770C>A	ENST00000360469.5	+	5	711	c.623C>A	c.(622-624)aCg>aAg	p.T208K	CDH4_ENST00000543233.1_Missense_Mutation_p.T134K	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	208	Cadherin 1.				adherens junction organization|cell junction assembly		calcium ion binding	p.T208M(1)		NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			TACAGCATCACGGGAGTGGGC	0.612													3	131					1	1	1	1	0	A	60419770	C	A	60419770	3	1	26	1	0	0	0	0	1	0	0	0	3134	536	19	5	641	5	CDH4	20	60419770	Missense_Mutation	SNP	C	TCGA-DB-5277-01A-01D-1468-08	43707458	60419770	2605750	62	1165											
LIPI	149998	broad.mit.edu	37	21	15561431	15561431	+	Missense_Mutation	SNP	G	G	C			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr21:15561431G>C	ENST00000344577.2	-	2	444	c.419C>G	c.(418-420)aCt>aGt	p.T140S	LIPI_ENST00000536861.1_Missense_Mutation_p.T119S	NM_198996.2	NP_945347.1	Q6XZB0	LIPI_HUMAN	lipase, member I	119					lipid catabolic process	extracellular region|extracellular space|membrane|plasma membrane	heparin binding|phospholipase activity			endometrium(1)|kidney(13)|large_intestine(9)|liver(3)|lung(24)|ovary(3)|urinary_tract(1)	54				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166)		ATAAATAAAAGTTGTAGCACC	0.363													52	66					0	0	1	0	0	C	15561431	G	C	15561431	3	2	26	1	0	0	0	0	1	0	0	0	8866	1029	36	4	1062	4	LIPI	21	15561431	Missense_Mutation	SNP	G	TCGA-DB-5277-01A-01D-1468-08		15561431	32568464	63	1166											
DIP2A	23181	broad.mit.edu	37	21	47978201	47978201	+	Silent	SNP	T	T	C			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr21:47978201T>C	ENST00000318711.7	+	32	4050	c.3867T>C	c.(3865-3867)atT>atC	p.I1289I	DIP2A_ENST00000400274.1_Silent_p.I1284I|DIP2A_ENST00000417564.2_Silent_p.I1288I	NM_001146116.1|NM_015151.3	NP_001139588.1|NP_055966.2	Q14689	DIP2A_HUMAN	DIP2 disco-interacting protein 2 homolog A (Drosophila)	1288					multicellular organismal development	nucleus	catalytic activity|transcription factor binding			cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		GGCCCAGGATTGCGCTGACCC	0.667													6	22					0	0	1	0	0	C	47978201	T	C	47978201	2	2	26	1	0	0	0	0	0	0	0	1	4555	1800	63	3		3	DIP2A	21	47978201	Silent	SNP	T	TCGA-DB-5277-01A-01D-1468-08	32416770	47978201	151694	64	1167											
COL4A6	1288	broad.mit.edu	37	X	107454952	107454952	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chrX:107454952C>T	ENST00000394872.2	-	8	688	c.457G>A	c.(457-459)Gga>Aga	p.G153R	COL4A6_ENST00000334504.7_Missense_Mutation_p.G154R|COL4A6_ENST00000538570.1_Missense_Mutation_p.G154R|COL4A6_ENST00000372216.4_Missense_Mutation_p.G155R|COL4A6_ENST00000545689.1_Missense_Mutation_p.G154R			Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	155	Triple-helical region.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						CCTTTTGATCCTTTCTGACCA	0.403									Alport syndrome with Diffuse Leiomyomatosis				4	97					0	0	1	0	0	T	107454952	C	T	107454952	3	4	26	1	0	0	0	0	1	0	0	0	3718	690	24	2	4768	2	COL4A6	23	107454952	Missense_Mutation	SNP	C	TCGA-DB-5277-01A-01D-1468-08		107454952	47815608	65	1168											
VANGL2	57216	broad.mit.edu	37	1	160389291	160389291	+	Missense_Mutation	SNP	A	A	G			TCGA-DB-5278-01A-01D-1468-08	TCGA-DB-5278-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6847e993-1414-4e6f-a2af-39ebe218dd7c	80b03480-5d28-481e-a447-59140d82f1f8	g.chr1:160389291A>G	ENST00000368061.2	+	4	1166	c.692A>G	c.(691-693)tAc>tGc	p.Y231C	VANGL2_ENST00000483408.1_3'UTR	NM_020335.2	NP_065068.1	Q9ULK5	VANG2_HUMAN	VANGL planar cell polarity protein 2	231					apical protein localization|heart looping|nonmotile primary cilium assembly	apical plasma membrane|integral to membrane				biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	37	all_cancers(52;1.08e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TTCGTGCACTACCTGGCCGTG	0.647													3	77					0	0	0.115264	0	0	G	160389291	A	G	160389291	3	3	27	1	0	0	0	0	1	0	0	0	17180	391	14	3	702	3	VANGL2	1	160389291	Missense_Mutation	SNP	A	TCGA-DB-5278-01A-01D-1468-08		160389291	88861330	1	1169											
RAB3GAP2	25782	broad.mit.edu	37	1	220387224	220387224	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-5278-01A-01D-1468-08	TCGA-DB-5278-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6847e993-1414-4e6f-a2af-39ebe218dd7c	80b03480-5d28-481e-a447-59140d82f1f8	g.chr1:220387224C>T	ENST00000358951.2	-	3	394	c.278G>A	c.(277-279)cGa>cAa	p.R93Q		NM_012414.3	NP_036546.2	Q9H2M9	RBGPR_HUMAN	RAB3 GTPase activating protein subunit 2 (non-catalytic)	93					intracellular protein transport	cytoplasm|soluble fraction	GTPase activator activity|protein heterodimerization activity			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(131;0.0443)		TTTTTGCTCTCGAGCTATCAC	0.363													23	58					0	0	0.667858	0	0	T	220387224	C	T	220387224	3	4	27	1	0	0	0	0	1	0	0	0	12988	884	31	1	4035	1	RAB3GAP2	1	220387224	Missense_Mutation	SNP	C	TCGA-DB-5278-01A-01D-1468-08	59997933	220387224	28863397	2	1170											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-DB-5278-01A-01D-1468-08	TCGA-DB-5278-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6847e993-1414-4e6f-a2af-39ebe218dd7c	80b03480-5d28-481e-a447-59140d82f1f8	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								46	72					0	0	0.870114	0	0	T	209113112	C	T	209113112	3	4	27	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-DB-5278-01A-01D-1468-08		209113112	34086261	3	1171											
ARPC1B	10095	broad.mit.edu	37	7	98987611	98987611	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-5278-01A-01D-1468-08	TCGA-DB-5278-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6847e993-1414-4e6f-a2af-39ebe218dd7c	80b03480-5d28-481e-a447-59140d82f1f8	g.chr7:98987611C>T	ENST00000451682.1	+	7	785	c.476C>T	c.(475-477)gCc>gTc	p.A159V	ARPC1B_ENST00000252725.5_Missense_Mutation_p.A159V			O15143	ARC1B_HUMAN	actin related protein 2/3 complex, subunit 1B, 41kDa	159					cellular component movement|regulation of actin filament polymerization	Arp2/3 protein complex|cytoplasm	actin binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(2)|lung(1)	11	all_cancers(62;3.49e-09)|all_epithelial(64;2.57e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)			CTGCTGGCTGCCGGCTCCTGT	0.632													4	168					0	0	0.184627	0	0	T	98987611	C	T	98987611	3	4	27	1	0	0	0	0	1	0	0	0	969	739	26	2	490	2	ARPC1B	7	98987611	Missense_Mutation	SNP	C	TCGA-DB-5278-01A-01D-1468-08		98987611	60151052	4	1172											
GIMAP6	474344	broad.mit.edu	37	7	150325310	150325310	+	Missense_Mutation	SNP	C	C	T	rs138521615	byFrequency	TCGA-DB-5278-01A-01D-1468-08	TCGA-DB-5278-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6847e993-1414-4e6f-a2af-39ebe218dd7c	80b03480-5d28-481e-a447-59140d82f1f8	g.chr7:150325310C>T	ENST00000328902.5	-	3	592	c.376G>A	c.(376-378)Gtg>Atg	p.V126M	GIMAP6_ENST00000493969.1_Missense_Mutation_p.R51H	NM_001244072.1|NM_024711.5	NP_001231001.1|NP_078987.3	Q6P9H5	GIMA6_HUMAN	GTPase, IMAP family member 6	126							GTP binding			endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		ACCAGGAGCACGGCGTGGGGC	0.622													40	81					0	0	0.847076	0	0	T	150325310	C	T	150325310	3	4	27	1	0	0	0	0	1	0	0	0	6425	536	19	1	506	1	GIMAP6	7	150325310	Missense_Mutation	SNP	C	TCGA-DB-5278-01A-01D-1468-08	51337699	150325310	8813353	5	1173											
SVIL	6840	broad.mit.edu	37	10	29770516	29770516	+	Missense_Mutation	SNP	G	G	T			TCGA-DB-5278-01A-01D-1468-08	TCGA-DB-5278-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6847e993-1414-4e6f-a2af-39ebe218dd7c	80b03480-5d28-481e-a447-59140d82f1f8	g.chr10:29770516G>T	ENST00000375398.2	-	30	5546	c.5097C>A	c.(5095-5097)caC>caA	p.H1699Q	SVIL_ENST00000375400.3_Missense_Mutation_p.H1273Q|SVIL_ENST00000538146.1_Missense_Mutation_p.H491Q|PTCHD3P1_ENST00000446807.1_RNA|SVIL_ENST00000355867.4_Missense_Mutation_p.H1699Q|SVIL_ENST00000535393.1_Missense_Mutation_p.H613Q|PTCHD3P1_ENST00000413405.1_RNA|SVIL_ENST00000460007.1_5'UTR|PTCHD3P1_ENST00000414457.1_RNA|PTCHD3P1_ENST00000423223.1_RNA			O95425	SVIL_HUMAN	supervillin	1699					cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				GGAATACCTTGTGCTGGGCAA	0.463													189	365					1.35662e-99	1.92782e-99	0.870114	1	0	T	29770516	G	T	29770516	3	4	27	1	0	0	0	0	1	0	0	0	15477	1368	48	5	1591	5	SVIL	10	29770516	Missense_Mutation	SNP	G	TCGA-DB-5278-01A-01D-1468-08		29770516	105764231	6	1174											
GTSF1	121355	broad.mit.edu	37	12	54857017	54857017	+	Missense_Mutation	SNP	C	C	A			TCGA-DB-5278-01A-01D-1468-08	TCGA-DB-5278-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6847e993-1414-4e6f-a2af-39ebe218dd7c	80b03480-5d28-481e-a447-59140d82f1f8	g.chr12:54857017C>A	ENST00000552397.1	-	4	1078	c.182G>T	c.(181-183)cGa>cTa	p.R61L	GTSF1_ENST00000305879.5_Missense_Mutation_p.R61L|RP11-753H16.5_ENST00000552785.1_RNA|RP11-753H16.3_ENST00000550474.1_RNA|GTSF1_ENST00000552395.1_5'UTR			Q8WW33	GTSF1_HUMAN	gametocyte specific factor 1	61							metal ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5		Myeloproliferative disorder(1001;0.00452)				AATTTCAGCTCGAGGAACCTG	0.413													4	98					0.184627	0.237378	0.184627	1	0	A	54857017	C	A	54857017	3	1	27	1	0	0	0	0	1	0	0	0	6927	884	31	5	341	5	GTSF1	12	54857017	Missense_Mutation	SNP	C	TCGA-DB-5278-01A-01D-1468-08		54857017	78994878	7	1175											
PARN	5073	broad.mit.edu	37	16	14680201	14680201	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DB-5278-01A-01D-1468-08	TCGA-DB-5278-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6847e993-1414-4e6f-a2af-39ebe218dd7c	80b03480-5d28-481e-a447-59140d82f1f8	g.chr16:14680201delT	ENST00000437198.2	-	14	1077	c.936delA	c.(934-936)aaafs	p.K312fs	PARN_ENST00000341484.7_Frame_Shift_Del_p.K251fs|PARN_ENST00000539279.1_Frame_Shift_Del_p.K137fs|PARN_ENST00000420015.2_Frame_Shift_Del_p.K266fs	NM_001134477.2|NM_002582.3	NP_001127949.1|NP_002573.1	O95453	PARN_HUMAN	poly(A)-specific ribonuclease	312					female gamete generation|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|RNA modification	cytosol|nucleolus	metal ion binding|mRNA 3'-UTR binding|nucleotide binding|poly(A)-specific ribonuclease activity|protein binding			cervix(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|urinary_tract(1)	21						TTGTCATCTCTTTAAACTCAC	0.373													2	4	---	---	---	---						-	14680201	T	-	14680201	7	5	27	1	0	1	0	1	0	0	0	0	11500	1606	56	0	1027	0	PARN	16	14680201	Frame_Shift_Del	DEL	T	TCGA-DB-5278-01A-01D-1468-08		14680201	75674552	8	1176											
SLC7A9	11136	broad.mit.edu	37	19	33355655	33355655	+	Missense_Mutation	SNP	T	T	G			TCGA-DB-5278-01A-01D-1468-08	TCGA-DB-5278-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6847e993-1414-4e6f-a2af-39ebe218dd7c	80b03480-5d28-481e-a447-59140d82f1f8	g.chr19:33355655T>G	ENST00000023064.4	-	3	306	c.115A>C	c.(115-117)Atc>Ctc	p.I39L	SLC7A9_ENST00000590341.1_Missense_Mutation_p.I39L|SLC7A9_ENST00000587772.1_Missense_Mutation_p.I39L	NM_001126335.1|NM_001243036.1|NM_014270.4	NP_001119807.1|NP_001229965.1|NP_055085.1	P82251	BAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, bo,+ system), member 9	39					blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	integral to plasma membrane	L-cystine transmembrane transporter activity|neutral amino acid transmembrane transporter activity|peptide antigen binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32	Esophageal squamous(110;0.137)				L-Cystine(DB00138)	GTGCCCACGATGATGGAGATG	0.622													75	60					0	0	0.870114	0	0	G	33355655	T	G	33355655	3	3	27	1	0	0	0	0	1	0	0	0	14760	1464	51	4	1392	4	SLC7A9	19	33355655	Missense_Mutation	SNP	T	TCGA-DB-5278-01A-01D-1468-08		33355655	25773328	9	1177											
CIC	23152	broad.mit.edu	37	19	42791743	42791743	+	Missense_Mutation	SNP	T	T	G			TCGA-DB-5278-01A-01D-1468-08	TCGA-DB-5278-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6847e993-1414-4e6f-a2af-39ebe218dd7c	80b03480-5d28-481e-a447-59140d82f1f8	g.chr19:42791743T>G	ENST00000572681.2	+	6	3424	c.3356T>G	c.(3355-3357)tTc>tGc	p.F1119C	CIC_ENST00000575354.2_Missense_Mutation_p.F210C|CIC_ENST00000160740.3_Missense_Mutation_p.F210C			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	210	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				TTCATGATCTTCAGCAAGCGG	0.627			"Mis, F, S"		oligodendroglioma								39	38					0	0	0.859065	0	0	G	42791743	T	G	42791743	3	3	27	1	0	0	0	0	1	0	0	0	3446	1783	62	5	647	5	CIC	19	42791743	Missense_Mutation	SNP	T	TCGA-DB-5278-01A-01D-1468-08	9436088	42791743	16337240	10	1178											
CIC	23152	broad.mit.edu	37	19	42799060	42799060	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-5278-01A-01D-1468-08	TCGA-DB-5278-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6847e993-1414-4e6f-a2af-39ebe218dd7c	80b03480-5d28-481e-a447-59140d82f1f8	g.chr19:42799060G>A	ENST00000572681.2	+	21	7330	c.7262G>A	c.(7261-7263)cGc>cAc	p.R2421H	CIC_ENST00000575354.2_Missense_Mutation_p.R1515H|CIC_ENST00000160740.3_Missense_Mutation_p.R1513H			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	1515					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	p.R1515L(1)|p.R1515H(1)		autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CGTGAGGTGCGCCAGAAGATC	0.632			"Mis, F, S"		oligodendroglioma								4	46					0	0	0.150653	0	0	A	42799060	G	A	42799060	3	1	27	1	0	0	0	0	1	0	0	0	3446	1087	38	1	4622	1	CIC	19	42799060	Missense_Mutation	SNP	G	TCGA-DB-5278-01A-01D-1468-08	7317	42799060	16329923	11	1179											
LRRC7	57554	broad.mit.edu	37	1	70504174	70504174	+	Silent	SNP	G	G	A			TCGA-DB-5279-01A-01D-1468-08	TCGA-DB-5279-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	277aa1d8-ce6a-4e32-a267-73c33665ab97	1761720c-3e2f-4ce7-8551-b859117e150f	g.chr1:70504174G>A	ENST00000310961.5	+	22	2986	c.2568G>A	c.(2566-2568)ccG>ccA	p.P856P	LRRC7_ENST00000415775.2_Silent_p.P135P|LRRC7_ENST00000035383.5_Silent_p.P851P			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	851						centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						CCCCTAGTCCGTTTGAAGACA	0.478													75	11					0	0	1	0	0	A	70504174	G	A	70504174	2	1	28	1	0	0	0	0	0	0	0	1	9065	1132	40	1		1	LRRC7	1	70504174	Silent	SNP	G	TCGA-DB-5279-01A-01D-1468-08		70504174	178746447	1	1180											
NEGR1	257194	broad.mit.edu	37	1	72748110	72748110	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-5279-01A-01D-1468-08	TCGA-DB-5279-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	277aa1d8-ce6a-4e32-a267-73c33665ab97	1761720c-3e2f-4ce7-8551-b859117e150f	g.chr1:72748110C>T	ENST00000357731.5	-	1	307	c.68G>A	c.(67-69)aGc>aAc	p.S23N	NEGR1_ENST00000434200.1_Missense_Mutation_p.S21N	NM_173808.2	NP_776169.2	Q7Z3B1	NEGR1_HUMAN	neuronal growth regulator 1						cell adhesion	anchored to membrane|plasma membrane		p.S23N(1)		endometrium(1)|kidney(4)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(4;1.26e-06)|Renal(4;1.32e-08)|all_epithelial(4;5.39e-07)|Hepatocellular(141;0.117)		KIRC - Kidney renal clear cell carcinoma(4;0.00529)|Kidney(4;0.00609)|all cancers(265;0.022)|GBM - Glioblastoma multiforme(62;0.0382)|Epithelial(280;0.242)		GCAGCACAGGCTGAGGAGCAC	0.627													6	14					0	0	1	0	0	T	72748110	C	T	72748110	3	4	28	1	0	0	0	0	1	0	0	0	10364	797	28	2	1024	2	NEGR1	1	72748110	Missense_Mutation	SNP	C	TCGA-DB-5279-01A-01D-1468-08	2243936	72748110	176502511	2	1181											
ENSA	2029	broad.mit.edu	37	1	150599964	150599964	+	Silent	SNP	G	G	A			TCGA-DB-5279-01A-01D-1468-08	TCGA-DB-5279-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	277aa1d8-ce6a-4e32-a267-73c33665ab97	1761720c-3e2f-4ce7-8551-b859117e150f	g.chr1:150599964G>A	ENST00000271690.8	-	2	268	c.162C>T	c.(160-162)ctC>ctT	p.L54L	ENSA_ENST00000356527.5_Silent_p.L54L|ENSA_ENST00000369014.5_Silent_p.L54L|ENSA_ENST00000339643.5_Silent_p.L54L|ENSA_ENST00000354702.3_5'UTR|ENSA_ENST00000361631.5_Silent_p.L50L|ENSA_ENST00000513281.1_Silent_p.L50L|ENSA_ENST00000361532.5_Silent_p.L50L|ENSA_ENST00000369016.4_Silent_p.L54L|ENSA_ENST00000503241.1_Silent_p.L54L|ENSA_ENST00000369009.3_Silent_p.L54L|ENSA_ENST00000503345.1_Silent_p.L54L|ENSA_ENST00000362052.7_Silent_p.L54L	NM_207044.1	NP_996927.1	O43768	ENSA_HUMAN	endosulfine alpha	54					cell division|G2/M transition of mitotic cell cycle|mitosis|response to nutrient|transport	cytoplasm	ion channel inhibitor activity|protein phosphatase 2A binding|protein phosphatase inhibitor activity|protein phosphatase type 2A regulator activity|receptor binding			breast(1)|central_nervous_system(1)|endometrium(1)|lung(1)	4	all_cancers(9;3.09e-52)|all_epithelial(9;4.47e-43)|all_lung(15;1.09e-34)|Lung NSC(24;4.04e-31)|Breast(34;0.000615)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;9.85e-23)|all cancers(9;5.06e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.67e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000701)|LUSC - Lung squamous cell carcinoma(543;0.171)			GTCTCTTCATGAGGAAGTCGG	0.493													89	81					0	0	1	0	0	A	150599964	G	A	150599964	2	1	28	1	0	0	0	0	0	0	0	1	5164	1277	45	2		2	ENSA	1	150599964	Silent	SNP	G	TCGA-DB-5279-01A-01D-1468-08	77851854	150599964	98650657	3	1182											
FCRL5	83416	broad.mit.edu	37	1	157491079	157491079	+	Missense_Mutation	SNP	G	G	A	rs142943534		TCGA-DB-5279-01A-01D-1468-08	TCGA-DB-5279-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	277aa1d8-ce6a-4e32-a267-73c33665ab97	1761720c-3e2f-4ce7-8551-b859117e150f	g.chr1:157491079G>A	ENST00000361835.3	-	11	2400	c.2243C>T	c.(2242-2244)cCg>cTg	p.P748L	FCRL5_ENST00000356953.4_Missense_Mutation_p.P748L|FCRL5_ENST00000461387.1_5'UTR	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	748						integral to membrane|plasma membrane	receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				GCGAGACACCGGAACTGAAAG	0.498													12	53					0	0	1	0	0	A	157491079	G	A	157491079	3	1	28	1	0	0	0	0	1	0	0	0	5831	1116	39	1	718	1	FCRL5	1	157491079	Missense_Mutation	SNP	G	TCGA-DB-5279-01A-01D-1468-08	6891115	157491079	91759542	4	1183											
ATP1A2	477	broad.mit.edu	37	1	160093040	160093040	+	Missense_Mutation	SNP	G	G	T			TCGA-DB-5279-01A-01D-1468-08	TCGA-DB-5279-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	277aa1d8-ce6a-4e32-a267-73c33665ab97	1761720c-3e2f-4ce7-8551-b859117e150f	g.chr1:160093040G>T	ENST00000361216.3	+	4	304	c.215G>T	c.(214-216)cGa>cTa	p.R72L	ATP1A2_ENST00000392233.3_Missense_Mutation_p.R72L	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	72					ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	p.R72L(1)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			GTTCTGGCTCGAGATGGGCCC	0.642													16	101					4.7546e-09	4.92441e-09	1	1	0	T	160093040	G	T	160093040	3	4	28	1	0	0	0	0	1	0	0	0	1128	1058	37	5	229	5	ATP1A2	1	160093040	Missense_Mutation	SNP	G	TCGA-DB-5279-01A-01D-1468-08	2601961	160093040	89157581	5	1184											
XPR1	9213	broad.mit.edu	37	1	180804077	180804077	+	Missense_Mutation	SNP	A	A	C			TCGA-DB-5279-01A-01D-1468-08	TCGA-DB-5279-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	277aa1d8-ce6a-4e32-a267-73c33665ab97	1761720c-3e2f-4ce7-8551-b859117e150f	g.chr1:180804077A>C	ENST00000367590.4	+	10	1400	c.1202A>C	c.(1201-1203)aAc>aCc	p.N401T	XPR1_ENST00000367589.3_Missense_Mutation_p.N401T	NM_004736.3	NP_004727.2	Q9UBH6	XPR1_HUMAN	xenotropic and polytropic retrovirus receptor 1	401						integral to plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	35						GATCAGCTGAACAGCCTGTCA	0.418													7	45					0	0	1	0	0	C	180804077	A	C	180804077	3	2	28	1	0	0	0	0	1	0	0	0	17511	43	2	5	1240	5	XPR1	1	180804077	Missense_Mutation	SNP	A	TCGA-DB-5279-01A-01D-1468-08	20711037	180804077	68446544	6	1185											
NCF2	4688	broad.mit.edu	37	1	183543623	183543623	+	Splice_Site	SNP	C	C	T			TCGA-DB-5279-01A-01D-1468-08	TCGA-DB-5279-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	277aa1d8-ce6a-4e32-a267-73c33665ab97	1761720c-3e2f-4ce7-8551-b859117e150f	g.chr1:183543623C>T	ENST00000367535.3	-	4	751	c.500G>A	c.(499-501)tGg>tAg	p.W167*	NCF2_ENST00000367536.1_Splice_Site_p.W167*|NCF2_ENST00000413720.1_Intron|NCF2_ENST00000418089.1_Intron	NM_000433.3	NP_000424.2	P19878	NCF2_HUMAN	neutrophil cytosolic factor 2	167					cellular defense response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex|nucleolus	electron carrier activity|protein C-terminus binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30						TACGCTTACCCAGACACACTC	0.463													138	157					0	0	1	0	0	T	183543623	C	T	183543623	5	4	28	1	0	0	0	0	0	0	1	0	10264	608	21	2	1128	2	NCF2	1	183543623	Splice_Site	SNP	C	TCGA-DB-5279-01A-01D-1468-08	2739546	183543623	65706998	7	1186											
ESRRG	2104	broad.mit.edu	37	1	216824353	216824353	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-5279-01A-01D-1468-08	TCGA-DB-5279-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	277aa1d8-ce6a-4e32-a267-73c33665ab97	1761720c-3e2f-4ce7-8551-b859117e150f	g.chr1:216824353C>T	ENST00000391890.3	-	5	999	c.482G>A	c.(481-483)cGc>cAc	p.R161H	ESRRG_ENST00000366938.2_Missense_Mutation_p.R161H|ESRRG_ENST00000360012.3_Missense_Mutation_p.R161H|ESRRG_ENST00000366937.1_Missense_Mutation_p.R189H|ESRRG_ENST00000463665.1_Intron|ESRRG_ENST00000487276.1_Missense_Mutation_p.R161H|ESRRG_ENST00000366940.2_Missense_Mutation_p.R161H|ESRRG_ENST00000493748.1_Missense_Mutation_p.R161H|ESRRG_ENST00000361525.3_Missense_Mutation_p.R161H|ESRRG_ENST00000361395.2_Missense_Mutation_p.R161H|ESRRG_ENST00000359162.2_Missense_Mutation_p.R161H|ESRRG_ENST00000493603.1_Missense_Mutation_p.R161H|ESRRG_ENST00000408911.3_Missense_Mutation_p.R184H	NM_001243515.1|NM_001243519.1	NP_001230444.1|NP_001230448.1	P62508	ERR3_HUMAN	estrogen-related receptor gamma	184					positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	AF-2 domain binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(29)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	Diethylstilbestrol(DB00255)	CTTCATGAAGCGGCAAGCCTG	0.448													26	152					0	0	1	0	0	T	216824353	C	T	216824353	3	4	28	1	0	0	0	0	1	0	0	0	5290	768	27	1	845	1	ESRRG	1	216824353	Missense_Mutation	SNP	C	TCGA-DB-5279-01A-01D-1468-08	33280730	216824353	32426268	8	1187											
MARK1	4139	broad.mit.edu	37	1	220831178	220831178	+	Splice_Site	SNP	T	T	G			TCGA-DB-5279-01A-01D-1468-08	TCGA-DB-5279-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	277aa1d8-ce6a-4e32-a267-73c33665ab97	1761720c-3e2f-4ce7-8551-b859117e150f	g.chr1:220831178T>G	ENST00000366917.4	+	17	2299		c.e17+2		MARK1_ENST00000402574.1_Intron|MARK1_ENST00000366918.4_Intron			Q9P0L2	MARK1_HUMAN	MAP/microtubule affinity-regulating kinase 1						intracellular protein kinase cascade	cytoplasm|microtubule cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1)	63				GBM - Glioblastoma multiforme(131;0.0407)		CACCTCAAGGTGAGGAGCCAC	0.378													4	14					0	0	1	0	0	G	220831178	T	G	220831178	5	3	28	1	0	0	0	0	0	0	1	0	9362	1710	59	5	2101	5	MARK1	1	220831178	Splice_Site	SNP	T	TCGA-DB-5279-01A-01D-1468-08	4006825	220831178	28419443	9	1188											
REG3G	130120	broad.mit.edu	37	2	79253917	79253917	+	Missense_Mutation	SNP	A	A	G			TCGA-DB-5279-01A-01D-1468-08	TCGA-DB-5279-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	277aa1d8-ce6a-4e32-a267-73c33665ab97	1761720c-3e2f-4ce7-8551-b859117e150f	g.chr2:79253917A>G	ENST00000272324.5	+	3	339	c.155A>G	c.(154-156)tAt>tGt	p.Y52C	REG3G_ENST00000409471.1_Missense_Mutation_p.Y52C|REG3G_ENST00000393897.2_Missense_Mutation_p.Y52C	NM_001008387.2	NP_001008388.1	Q6UW15	REG3G_HUMAN	regenerating islet-derived 3 gamma	52	C-type lectin.				acute-phase response	extracellular region	sugar binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(27)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TCCCCCTGCTATGCCTTGTTT	0.542													13	23					0	0	1	0	0	G	79253917	A	G	79253917	3	3	28	1	0	0	0	0	1	0	0	0	13265	449	16	3	161	3	REG3G	2	79253917	Missense_Mutation	SNP	A	TCGA-DB-5279-01A-01D-1468-08		79253917	163945456	10	1189											
NCKAP5	344148	broad.mit.edu	37	2	133486435	133486436	+	Frame_Shift_Ins	INS	-	-	G			TCGA-DB-5279-01A-01D-1468-08	TCGA-DB-5279-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	277aa1d8-ce6a-4e32-a267-73c33665ab97	1761720c-3e2f-4ce7-8551-b859117e150f	g.chr2:133486435_133486436insG	ENST00000409261.1	-	18	5906_5907	c.5533_5534insC	c.(5533-5535)cagfs	p.Q1845fs	NCKAP5_ENST00000409213.1_Frame_Shift_Ins_p.Q526fs|NCKAP5_ENST00000317721.6_Frame_Shift_Ins_p.Q1845fs|NCKAP5_ENST00000405974.3_Frame_Shift_Ins_p.Q526fs	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	1845							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						TGGAAGCGGCTGGCTTGCCATT	0.545													9	355	---	---	---	---						G	133486436	-	G	133486435	7	5	28	1	0	1	1	0	0	0	0	0	10270	1580	55	0	207	0	NCKAP5	2	133486435	Frame_Shift_Ins	INS	-	TCGA-DB-5279-01A-01D-1468-08	54232518	133486435	109712938	11	1190											
SPOPL	339745	broad.mit.edu	37	2	139308482	139308482	+	Silent	SNP	G	G	A			TCGA-DB-5279-01A-01D-1468-08	TCGA-DB-5279-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	277aa1d8-ce6a-4e32-a267-73c33665ab97	1761720c-3e2f-4ce7-8551-b859117e150f	g.chr2:139308482G>A	ENST00000280098.4	+	4	589	c.210G>A	c.(208-210)agG>agA	p.R70R		NM_001001664.2	NP_001001664.1	Q6IQ16	SPOPL_HUMAN	speckle-type POZ protein-like	70	MATH.					nucleus				breast(2)|cervix(2)|endometrium(2)|large_intestine(2)|lung(11)|skin(2)	21				BRCA - Breast invasive adenocarcinoma(221;0.0296)		GGTGCCTGAGGGTAAACCCAA	0.378													35	153					0	0	1	0	0	A	139308482	G	A	139308482	2	1	28	1	0	0	0	0	0	0	0	1	15141	1223	43	2		2	SPOPL	2	139308482	Silent	SNP	G	TCGA-DB-5279-01A-01D-1468-08	5822047	139308482	103890891	12	1191											
ITGA6	3655	broad.mit.edu	37	2	173366600	173366600	+	Missense_Mutation	SNP	A	A	T			TCGA-DB-5279-01A-01D-1468-08	TCGA-DB-5279-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	277aa1d8-ce6a-4e32-a267-73c33665ab97	1761720c-3e2f-4ce7-8551-b859117e150f	g.chr2:173366600A>T	ENST00000375221.2	+	26	3535	c.3332A>T	c.(3331-3333)gAt>gTt	p.D1111V	ITGA6_ENST00000409532.1_Missense_Mutation_p.D953V|ITGA6_ENST00000409080.1_Intron|AC093818.1_ENST00000442417.1_RNA|ITGA6_ENST00000264106.6_Intron|ITGA6_ENST00000343713.4_Missense_Mutation_p.D1067V|ITGA6_ENST00000264107.7_Missense_Mutation_p.D1072V			P23229	ITA6_HUMAN	integrin, alpha 6	0					blood coagulation|cell adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter	integrin complex	protein binding|receptor activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	44			OV - Ovarian serous cystadenocarcinoma(117;0.0979)			CTTACTTCTGATGCATAGTAT	0.383													18	92					0	0	1	0	0	T	173366600	A	T	173366600	3	4	28	1	0	0	0	0	1	0	0	0	7924	333	12	4	3313	4	ITGA6	2	173366600	Missense_Mutation	SNP	A	TCGA-DB-5279-01A-01D-1468-08	34058118	173366600	69832773	13	1192											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-DB-5279-01A-01D-1468-08	TCGA-DB-5279-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	277aa1d8-ce6a-4e32-a267-73c33665ab97	1761720c-3e2f-4ce7-8551-b859117e150f	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	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								60	67					0	0	1	0	0	T	209113112	C	T	209113112	3	4	28	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-DB-5279-01A-01D-1468-08	35746512	209113112	34086261	14	1193											
SUMF1	285362	broad.mit.edu	37	3	4491010	4491010	+	Silent	SNP	G	G	A	rs148557574		TCGA-DB-5279-01A-01D-1468-08	TCGA-DB-5279-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	277aa1d8-ce6a-4e32-a267-73c33665ab97	1761720c-3e2f-4ce7-8551-b859117e150f	g.chr3:4491010G>A	ENST00000272902.5	-	3	494	c.459C>T	c.(457-459)ggC>ggT	p.G153G	SUMF1_ENST00000405420.2_Silent_p.G153G|SUMF1_ENST00000383843.5_Intron|SUMF1_ENST00000534863.1_Silent_p.G153G|SUMF1_ENST00000458465.2_Intron	NM_182760.3	NP_877437.2	Q8NBK3	SUMF1_HUMAN	sulfatase modifying factor 1	153						endoplasmic reticulum lumen	metal ion binding|oxidoreductase activity			breast(1)|endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(3)	13		Melanoma(143;0.068)|Colorectal(144;0.233)		Epithelial(13;0.0147)|OV - Ovarian serous cystadenocarcinoma(96;0.0444)|all cancers(10;0.0549)		CAAAGGAGTCGCCAAACTTCT	0.403													104	145					0	0	1	0	0	A	4491010	G	A	4491010	2	1	28	1	0	0	0	0	0	0	0	1	15441	1074	38	1		1	SUMF1	3	4491010	Silent	SNP	G	TCGA-DB-5279-01A-01D-1468-08		4491010	193531420	15	1194											
RBM6	10180	broad.mit.edu	37	3	50099412	50099412	+	Silent	SNP	C	C	T			TCGA-DB-5279-01A-01D-1468-08	TCGA-DB-5279-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	277aa1d8-ce6a-4e32-a267-73c33665ab97	1761720c-3e2f-4ce7-8551-b859117e150f	g.chr3:50099412C>T	ENST00000443081.1	+	15	2980	c.2061C>T	c.(2059-2061)ccC>ccT	p.P687P	RBM6_ENST00000441115.1_3'UTR|RBM6_ENST00000539992.1_Silent_p.P161P|RBM6_ENST00000442092.1_Silent_p.P297P|RBM6_ENST00000266022.4_Silent_p.P819P|RBM6_ENST00000422955.1_Silent_p.P297P			P78332	RBM6_HUMAN	RNA binding motif protein 6	819					RNA processing	nucleus	DNA binding|nucleotide binding|RNA binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(4)|urinary_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)		TCTATGTGCCCCAGGATCCTG	0.438													20	41					0	0	1	0	0	T	50099412	C	T	50099412	2	4	28	1	0	0	0	0	0	0	0	1	13196	610	22	2		2	RBM6	3	50099412	Silent	SNP	C	TCGA-DB-5279-01A-01D-1468-08	45608402	50099412	147923018	16	1195											
FXR1	8087	broad.mit.edu	37	3	180679280	180679280	+	Missense_Mutation	SNP	G	G	T			TCGA-DB-5279-01A-01D-1468-08	TCGA-DB-5279-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	277aa1d8-ce6a-4e32-a267-73c33665ab97	1761720c-3e2f-4ce7-8551-b859117e150f	g.chr3:180679280G>T	ENST00000357559.4	+	11	1399	c.1015G>T	c.(1015-1017)Ggc>Tgc	p.G339C	FXR1_ENST00000480918.1_Missense_Mutation_p.G326C|FXR1_ENST00000491062.1_Missense_Mutation_p.G290C|FXR1_ENST00000468861.1_Missense_Mutation_p.G254C|FXR1_ENST00000305586.7_Missense_Mutation_p.G254C|FXR1_ENST00000445140.2_Missense_Mutation_p.G339C	NM_001013438.2|NM_005087.3	NP_001013456.1|NP_005078.2	P51114	FXR1_HUMAN	fragile X mental retardation, autosomal homolog 1	339					apoptosis|cell differentiation|muscle organ development	nucleolus|polysome				breast(3)|endometrium(4)|large_intestine(5)|lung(12)|skin(2)	26	all_cancers(143;6.07e-14)|Ovarian(172;0.0212)		Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22)			TGTATTTGTTGGCACTAAAGA	0.308													4	123					0.150653	0.152405	1	1	0	T	180679280	G	T	180679280	3	4	28	1	0	0	0	0	1	0	0	0	6150	1348	47	5	1057	5	FXR1	3	180679280	Missense_Mutation	SNP	G	TCGA-DB-5279-01A-01D-1468-08	130579868	180679280	17343150	17	1196											
MCCC1	56922	broad.mit.edu	37	3	182759530	182759530	+	Silent	SNP	T	T	C			TCGA-DB-5279-01A-01D-1468-08	TCGA-DB-5279-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	277aa1d8-ce6a-4e32-a267-73c33665ab97	1761720c-3e2f-4ce7-8551-b859117e150f	g.chr3:182759530T>C	ENST00000492597.1	-	10	1467	c.765A>G	c.(763-765)gcA>gcG	p.A255A	MCCC1_ENST00000539926.1_Silent_p.A229A|MCCC1_ENST00000265594.4_Silent_p.A364A			Q96RQ3	MCCA_HUMAN	methylcrotonoyl-CoA carboxylase 1 (alpha)	364	ATP-grasp.|Biotin carboxylation.				biotin metabolic process|leucine catabolic process	mitochondrial inner membrane|mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|methylcrotonoyl-CoA carboxylase activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(17)|ovary(1)|pancreas(2)|prostate(1)|skin(2)	40	all_cancers(143;1.84e-14)|Ovarian(172;0.0355)		all cancers(12;1.8e-44)|Epithelial(37;3.23e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;5.07e-21)		Biotin(DB00121)	TCTTCTCTCCTGCTGCAATCT	0.403													82	120					0	0	1	0	0	C	182759530	T	C	182759530	2	2	28	1	0	0	0	0	0	0	0	1	9424	1567	55	3		3	MCCC1	3	182759530	Silent	SNP	T	TCGA-DB-5279-01A-01D-1468-08	2080250	182759530	15262900	18	1197											
LRCH3	84859	broad.mit.edu	37	3	197559180	197559180	+	Missense_Mutation	SNP	A	A	G			TCGA-DB-5279-01A-01D-1468-08	TCGA-DB-5279-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	277aa1d8-ce6a-4e32-a267-73c33665ab97	1761720c-3e2f-4ce7-8551-b859117e150f	g.chr3:197559180A>G	ENST00000438796.2	+	8	1138	c.1094A>G	c.(1093-1095)aAc>aGc	p.N365S	LRCH3_ENST00000414675.2_Missense_Mutation_p.N365S|LRCH3_ENST00000334859.4_Missense_Mutation_p.N365S|LRCH3_ENST00000425562.2_Missense_Mutation_p.N365S|LRCH3_ENST00000536618.1_5'UTR|LRCH3_ENST00000441090.2_Missense_Mutation_p.N239S			Q96II8	LRCH3_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 3	365						extracellular region				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;4.82e-24)|all cancers(36;3.61e-22)|OV - Ovarian serous cystadenocarcinoma(49;7.08e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.119)		GTAGTAACAAACGGCGGAGGT	0.408													17	57					0	0	1	0	0	G	197559180	A	G	197559180	3	3	28	1	0	0	0	0	1	0	0	0	8979	43	2	3	1124	3	LRCH3	3	197559180	Missense_Mutation	SNP	A	TCGA-DB-5279-01A-01D-1468-08	14799650	197559180	463250	19	1198											
KIAA1109	84162	broad.mit.edu	37	4	123192264	123192264	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-5279-01A-01D-1468-08	TCGA-DB-5279-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	277aa1d8-ce6a-4e32-a267-73c33665ab97	1761720c-3e2f-4ce7-8551-b859117e150f	g.chr4:123192264G>A	ENST00000264501.4	+	47	7958	c.7585G>A	c.(7585-7587)Gtg>Atg	p.V2529M	KIAA1109_ENST00000388738.3_Missense_Mutation_p.V2529M|KIAA1109_ENST00000455637.1_Missense_Mutation_p.V2529M			Q2LD37	K1109_HUMAN	KIAA1109	2529					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						GGAAAAGTCCGTGTGCACCCC	0.438													52	143					0	0	1	0	0	A	123192264	G	A	123192264	3	1	28	1	0	0	0	0	1	0	0	0	8250	1145	40	1	7763	1	KIAA1109	4	123192264	Missense_Mutation	SNP	G	TCGA-DB-5279-01A-01D-1468-08		123192264	67962012	20	1199											
PIK3R1	5295	broad.mit.edu	37	5	67589138	67589138	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-5279-01A-01D-1468-08	TCGA-DB-5279-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	277aa1d8-ce6a-4e32-a267-73c33665ab97	1761720c-3e2f-4ce7-8551-b859117e150f	g.chr5:67589138G>A	ENST00000521381.1	+	10	1742	c.1126G>A	c.(1126-1128)Gga>Aga	p.G376R	PIK3R1_ENST00000336483.5_Missense_Mutation_p.G106R|PIK3R1_ENST00000521657.1_Missense_Mutation_p.G376R|PIK3R1_ENST00000396611.1_Missense_Mutation_p.G376R|PIK3R1_ENST00000320694.8_Missense_Mutation_p.G76R|PIK3R1_ENST00000274335.5_Missense_Mutation_p.G376R|PIK3R1_ENST00000523872.1_Missense_Mutation_p.G13R	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	376	SH2 1.				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.G376R(5)|p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	CAGGAAAGGGGGAAATAACAA	0.308			"Mis, F, O"		"gliobastoma, ovarian, colorectal"					TCGA GBM(4;<1E-08)			40	70					0	0	1	0	0	A	67589138	G	A	67589138	3	1	28	1	0	0	0	0	1	0	0	0	11966	1233	43	2	1290	2	PIK3R1	5	67589138	Missense_Mutation	SNP	G	TCGA-DB-5279-01A-01D-1468-08		67589138	113326122	21	1200											
ZCCHC9	84240	broad.mit.edu	37	5	80607067	80607070	+	Frame_Shift_Del	DEL	AAAG	AAAG	-			TCGA-DB-5279-01A-01D-1468-08	TCGA-DB-5279-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	277aa1d8-ce6a-4e32-a267-73c33665ab97	1761720c-3e2f-4ce7-8551-b859117e150f	g.chr5:80607067_80607070delAAAG	ENST00000254037.2	+	4	3821_3824	c.666_669delAAAG	c.(664-669)ttaaagfs	p.LK222fs	ZCCHC9_ENST00000438268.2_Frame_Shift_Del_p.LK222fs|ZCCHC9_ENST00000407610.3_Frame_Shift_Del_p.LK222fs|ZCCHC9_ENST00000506458.1_3'UTR|ZCCHC9_ENST00000380199.5_Frame_Shift_Del_p.LK222fs			Q8N567	ZCHC9_HUMAN	zinc finger, CCHC domain containing 9	222							nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)	13		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;8.18e-45)|Epithelial(54;2.72e-39)|all cancers(79;7.33e-34)		TGGAACATTTAAAGAAAGATTGCC	0.417													190	349	---	---	---	---						-	80607070	AAAG	-	80607067	7	5	28	1	0	1	0	1	0	0	0	0	17653	359	13	0	680	0	ZCCHC9	5	80607067	Frame_Shift_Del	DEL	AAAG	TCGA-DB-5279-01A-01D-1468-08	13017929	80607067	100308193	22	1201											
TMCO6	55374	broad.mit.edu	37	5	140024213	140024214	+	Frame_Shift_Ins	INS	-	-	G	rs4147626		TCGA-DB-5279-01A-01D-1468-08	TCGA-DB-5279-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	277aa1d8-ce6a-4e32-a267-73c33665ab97	1761720c-3e2f-4ce7-8551-b859117e150f	g.chr5:140024213_140024214insG	ENST00000394671.3	+	11	1357_1358	c.1256_1257insG	c.(1255-1260)ctgtggfs	p.W420fs	NDUFA2_ENST00000510680.1_Intron|TMCO6_ENST00000537378.1_Frame_Shift_Ins_p.W180fs|TMCO6_ENST00000252100.6_Frame_Shift_Ins_p.W426fs	NM_018502.3	NP_060972.3	Q96DC7	TMCO6_HUMAN	transmembrane and coiled-coil domains 6	420					protein import into nucleus	cytoplasm|nuclear pore	binding|protein transporter activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|urinary_tract(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCCAGCGGCTGTGGCCAGGGC	0.51													9	426	---	---	---	---						G	140024214	-	G	140024213	7	5	28	1	0	1	1	0	0	0	0	0	16060	1580	55	0	1298	0	TMCO6	5	140024213	Frame_Shift_Ins	INS	-	TCGA-DB-5279-01A-01D-1468-08	59417146	140024213	40891047	23	1202											
PCDHB3	56132	broad.mit.edu	37	5	140481839	140481839	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-5279-01A-01D-1468-08	TCGA-DB-5279-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	277aa1d8-ce6a-4e32-a267-73c33665ab97	1761720c-3e2f-4ce7-8551-b859117e150f	g.chr5:140481839C>T	ENST00000231130.2	+	1	1606	c.1606C>T	c.(1606-1608)Cgt>Tgt	p.R536C		NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN		536	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGCCACAGACCGTGGCTCCCC	0.672													17	55					0	0	1	0	0	T	140481839	C	T	140481839	3	4	28	1	0	0	0	0	1	0	0	0	11590	652	23	1	1608	1	PCDHB3	5	140481839	Missense_Mutation	SNP	C	TCGA-DB-5279-01A-01D-1468-08	457626	140481839	40433421	24	1203											
PCDHGA1	56114	broad.mit.edu	37	5	140711827	140711827	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-5279-01A-01D-1468-08	TCGA-DB-5279-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	277aa1d8-ce6a-4e32-a267-73c33665ab97	1761720c-3e2f-4ce7-8551-b859117e150f	g.chr5:140711827C>T	ENST00000517417.1	+	1	1576	c.1576C>T	c.(1576-1578)Cgg>Tgg	p.R526W	PCDHGA1_ENST00000378105.3_Missense_Mutation_p.R526W	NM_018912.2	NP_061735.1														breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGAGCAGTTCCGGGACATGCA	0.587													72	255					0	0	1	0	0	T	140711827	C	T	140711827	3	4	28	1	0	0	0	0	1	0	0	0	11597	643	23	1	1578	1	PCDHGA1	5	140711827	Missense_Mutation	SNP	C	TCGA-DB-5279-01A-01D-1468-08	229988	140711827	40203433	25	1204											
GRPEL2	134266	broad.mit.edu	37	5	148727842	148727842	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-5279-01A-01D-1468-08	TCGA-DB-5279-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	277aa1d8-ce6a-4e32-a267-73c33665ab97	1761720c-3e2f-4ce7-8551-b859117e150f	g.chr5:148727842C>T	ENST00000329271.3	+	2	195	c.85C>T	c.(85-87)Ccg>Tcg	p.P29S	GRPEL2_ENST00000513661.1_Missense_Mutation_p.P29S|GRPEL2_ENST00000507562.1_3'UTR|GRPEL2-AS1_ENST00000521295.1_RNA|GRPEL2_ENST00000416916.2_Missense_Mutation_p.P29S	NM_152407.3	NP_689620.2	Q8TAA5	GRPE2_HUMAN	GrpE-like 2, mitochondrial (E. coli)	29					protein folding	mitochondrial matrix	adenyl-nucleotide exchange factor activity|chaperone binding|protein homodimerization activity			breast(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TAGGGGATGGCCGCTTCCATT	0.517													28	105					0	0	1	0	0	T	148727842	C	T	148727842	3	4	28	1	0	0	0	0	1	0	0	0	6848	739	26	2	91	2	GRPEL2	5	148727842	Missense_Mutation	SNP	C	TCGA-DB-5279-01A-01D-1468-08	8016015	148727842	32187418	26	1205											
NEDD9	4739	broad.mit.edu	37	6	11190997	11190997	+	Missense_Mutation	SNP	A	A	G			TCGA-DB-5279-01A-01D-1468-08	TCGA-DB-5279-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	277aa1d8-ce6a-4e32-a267-73c33665ab97	1761720c-3e2f-4ce7-8551-b859117e150f	g.chr6:11190997A>G	ENST00000379446.5	-	5	1271	c.1105T>C	c.(1105-1107)Tct>Cct	p.S369P	NEDD9_ENST00000504387.1_Missense_Mutation_p.S369P|RP3-510L9.1_ENST00000500636.2_RNA	NM_001271033.1|NM_006403.3	NP_001257962.1|NP_006394.1	Q14511	CASL_HUMAN	neural precursor cell expressed, developmentally down-regulated 9	369					actin filament bundle assembly|cell adhesion|cell division|integrin-mediated signaling pathway|mitosis|regulation of growth	cell cortex|focal adhesion|Golgi apparatus|lamellipodium|nucleus	protein binding			endometrium(3)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	Breast(50;0.0768)|Ovarian(93;0.152)	all_hematologic(90;0.135)	Epithelial(50;0.0647)|all cancers(50;0.179)			CTGGAGAAAGACAATCGGTTG	0.547													55	49					0	0	1	0	0	G	11190997	A	G	11190997	3	3	28	1	0	0	0	0	1	0	0	0	10360	275	10	3	1411	3	NEDD9	6	11190997	Missense_Mutation	SNP	A	TCGA-DB-5279-01A-01D-1468-08		11190997	159924070	27	1206											
GPX6	257202	broad.mit.edu	37	6	28472105	28472105	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-5279-01A-01D-1468-08	TCGA-DB-5279-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	277aa1d8-ce6a-4e32-a267-73c33665ab97	1761720c-3e2f-4ce7-8551-b859117e150f	g.chr6:28472105G>A	ENST00000474923.1	-	4	573	c.530C>T	c.(529-531)aCa>aTa	p.T177I	GPX6_ENST00000361902.1_Silent_p.D210D			P59796	GPX6_HUMAN	glutathione peroxidase 6 (olfactory)	0					response to oxidative stress	extracellular region	glutathione peroxidase activity			NS(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19					Glutathione(DB00143)	ACTCCAGGATGTCTGACTTGA	0.502													59	71					0	0	1	0	0	A	28472105	G	A	28472105	3	1	28	1	0	0	0	0	1	0	0	0	6785	1368	48	2	39	2	GPX6	6	28472105	Missense_Mutation	SNP	G	TCGA-DB-5279-01A-01D-1468-08	17281108	28472105	142642962	28	1207											
ABCC10	89845	broad.mit.edu	37	6	43400462	43400462	+	Silent	SNP	C	C	T			TCGA-DB-5279-01A-01D-1468-08	TCGA-DB-5279-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	277aa1d8-ce6a-4e32-a267-73c33665ab97	1761720c-3e2f-4ce7-8551-b859117e150f	g.chr6:43400462C>T	ENST00000244533.3	+	1	974	c.615C>T	c.(613-615)tgC>tgT	p.C205C	ABCC10_ENST00000443426.2_Intron|ABCC10_ENST00000372530.4_Silent_p.C248C	NM_033450.2	NP_258261.2	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	248						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	p.C205C(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			AGGACATTTGCCGCCTCCCCC	0.642													3	35					0	0	1	0	0	T	43400462	C	T	43400462	2	4	28	1	0	0	0	0	0	0	0	1	50	747	26	2		2	ABCC10	6	43400462	Silent	SNP	C	TCGA-DB-5279-01A-01D-1468-08	14928357	43400462	127714605	29	1208											
PAQR8	85315	broad.mit.edu	37	6	52268301	52268301	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-5279-01A-01D-1468-08	TCGA-DB-5279-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	277aa1d8-ce6a-4e32-a267-73c33665ab97	1761720c-3e2f-4ce7-8551-b859117e150f	g.chr6:52268301C>T	ENST00000442253.2	+	2	464	c.290C>T	c.(289-291)gCc>gTc	p.A97V	PAQR8_ENST00000360726.3_Missense_Mutation_p.A97V	NM_133367.4	NP_588608.1	Q8TEZ7	MPRB_HUMAN	progestin and adipoQ receptor family member VIII	97					cell differentiation|multicellular organismal development|oogenesis	integral to membrane|plasma membrane	receptor activity|steroid binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|urinary_tract(2)	17	Lung NSC(77;0.0875)					TGGGCCTTTGCCGAGGCTGAG	0.572													15	66					0	0	1	0	0	T	52268301	C	T	52268301	3	4	28	1	0	0	0	0	1	0	0	0	11488	739	26	2	292	2	PAQR8	6	52268301	Missense_Mutation	SNP	C	TCGA-DB-5279-01A-01D-1468-08	8867839	52268301	118846766	30	1209											
SIM1	6492	broad.mit.edu	37	6	100841631	100841631	+	Silent	SNP	G	G	A			TCGA-DB-5279-01A-01D-1468-08	TCGA-DB-5279-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	277aa1d8-ce6a-4e32-a267-73c33665ab97	1761720c-3e2f-4ce7-8551-b859117e150f	g.chr6:100841631G>A	ENST00000369208.3	-	11	2084	c.1302C>T	c.(1300-1302)tgC>tgT	p.C434C	SIM1_ENST00000262901.4_Silent_p.C434C			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	434	Single-minded C-terminal.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		GTCTGTAGGCGCACGATGCGT	0.617													19	65					0	0	1	0	0	A	100841631	G	A	100841631	2	1	28	1	0	0	0	0	0	0	0	1	14378	1079	38	1		1	SIM1	6	100841631	Silent	SNP	G	TCGA-DB-5279-01A-01D-1468-08	48573330	100841631	70273436	31	1210											
SLA	6503	broad.mit.edu	37	8	134050855	134050855	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DB-5279-01A-01D-1468-08	TCGA-DB-5279-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	277aa1d8-ce6a-4e32-a267-73c33665ab97	1761720c-3e2f-4ce7-8551-b859117e150f	g.chr8:134050855G>A	ENST00000338087.5	-	9	1564	c.745C>T	c.(745-747)Cga>Tga	p.R249*	TG_ENST00000542445.1_Intron|TG_ENST00000377869.1_Intron|SLA_ENST00000524345.1_Nonsense_Mutation_p.R141*|SLA_ENST00000517648.1_Nonsense_Mutation_p.R222*|SLA_ENST00000427060.2_Nonsense_Mutation_p.R289*|TG_ENST00000519543.1_Intron|SLA_ENST00000395352.3_Nonsense_Mutation_p.R266*|TG_ENST00000220616.4_Intron	NM_001045556.2	NP_001039021.1	Q13239	SLAP1_HUMAN	Src-like-adaptor	249	SLA C-terminal.					endosome	SH3/SH2 adaptor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(6)|prostate(1)|skin(1)	17	all_epithelial(106;3.51e-21)|Lung NSC(106;4.24e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0279)|Breast(495;0.037)	BRCA - Breast invasive adenocarcinoma(115;0.000701)			TTCTTCTTTCGATCAAAGGAG	0.498													61	196					0	0	1	0	0	A	134050855	G	A	134050855	4	1	28	1	0	0	0	0	0	1	0	0	14418	1066	37	1	89	1	SLA	8	134050855	Nonsense_Mutation	SNP	G	TCGA-DB-5279-01A-01D-1468-08		134050855	12313167	32	1211											
JAK2	3717	broad.mit.edu	37	9	5090496	5090496	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DB-5279-01A-01D-1468-08	TCGA-DB-5279-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	277aa1d8-ce6a-4e32-a267-73c33665ab97	1761720c-3e2f-4ce7-8551-b859117e150f	g.chr9:5090496C>T	ENST00000381652.3	+	21	3306	c.2812C>T	c.(2812-2814)Cga>Tga	p.R938*	JAK2_ENST00000539801.1_Nonsense_Mutation_p.R938*|JAK2_ENST00000544510.1_Nonsense_Mutation_p.R789*	NM_004972.3	NP_004963.1	O60674	JAK2_HUMAN	Janus kinase 2	938	Protein kinase 2.				actin filament polymerization|activation of caspase activity by protein phosphorylation|activation of JAK2 kinase activity|blood coagulation|cellular component movement|erythrocyte differentiation|interferon-gamma-mediated signaling pathway|interleukin-12-mediated signaling pathway|JAK-STAT cascade involved in growth hormone signaling pathway|mammary gland epithelium development|mesoderm development|negative regulation of cell proliferation|negative regulation of DNA binding|positive regulation of apoptosis|positive regulation of cell-substrate adhesion|positive regulation of growth hormone receptor signaling pathway|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|protein autophosphorylation|regulation of inflammatory response|regulation of interferon-gamma-mediated signaling pathway|response to antibiotic|response to lipopolysaccharide|STAT protein import into nucleus|tumor necrosis factor-mediated signaling pathway|tyrosine phosphorylation of STAT protein	caveola|cytoskeleton|cytosol|endomembrane system|nucleus	ATP binding|growth hormone receptor binding|heme binding|histone binding|histone kinase activity (H3-Y41 specific)|interleukin-12 receptor binding|non-membrane spanning protein tyrosine kinase activity|protein kinase binding|SH2 domain binding		BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)|ETV6/JAK2(11)|PCM1/JAK2(30)|PAX5/JAK2(18)	breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(32944)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(4)|skin(2)|urinary_tract(1)	32998	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)		TGGAAGTTTACGAGACTATCT	0.313		1	"T, Mis, O"	"ETV6, PCM1, BCR"	"ALL, AML, MPD,  CML"				Polycythemia Vera, Familial				103	21					0	0	1	0	0	T	5090496	C	T	5090496	4	4	28	1	0	0	0	0	0	1	0	0	7982	528	19	1	2886	1	JAK2	9	5090496	Nonsense_Mutation	SNP	C	TCGA-DB-5279-01A-01D-1468-08		5090496	136122935	33	1212											
CKS2	1164	broad.mit.edu	37	9	91926227	91926227	+	Missense_Mutation	SNP	A	A	G			TCGA-DB-5279-01A-01D-1468-08	TCGA-DB-5279-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	277aa1d8-ce6a-4e32-a267-73c33665ab97	1761720c-3e2f-4ce7-8551-b859117e150f	g.chr9:91926227A>G	ENST00000314355.6	+	1	115	c.20A>G	c.(19-21)tAc>tGc	p.Y7C		NM_001827.1	NP_001818.1	P33552	CKS2_HUMAN	CDC28 protein kinase regulatory subunit 2	7					cell division|cell proliferation|phosphatidylinositol-mediated signaling|regulation of cyclin-dependent protein kinase activity|spindle organization		cyclin-dependent protein kinase regulator activity			kidney(1)|large_intestine(1)	2						AAGCAGATCTACTACTCGGAC	0.642													14	17					0	0	1	0	0	G	91926227	A	G	91926227	3	3	28	1	0	0	0	0	1	0	0	0	3476	391	14	3	22	3	CKS2	9	91926227	Missense_Mutation	SNP	A	TCGA-DB-5279-01A-01D-1468-08	86835731	91926227	49287204	34	1213											
RPL7A	6130	broad.mit.edu	37	9	136217156	136217156	+	Silent	SNP	C	C	T	rs142456845	by1000genomes	TCGA-DB-5279-01A-01D-1468-08	TCGA-DB-5279-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	277aa1d8-ce6a-4e32-a267-73c33665ab97	1761720c-3e2f-4ce7-8551-b859117e150f	g.chr9:136217156C>T	ENST00000323345.6	+	5	507	c.477C>T	c.(475-477)caC>caT	p.H159H	RPL7A_ENST00000315731.4_Silent_p.H44H|RPL7A_ENST00000463740.1_3'UTR	NM_000972.2	NP_000963.1	P62424	RL7A_HUMAN	ribosomal protein L7a	159					endocrine pancreas development|ribosome biogenesis|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|membrane fraction|polysomal ribosome	RNA binding|structural constituent of ribosome			cervix(1)|endometrium(1)|kidney(1)|lung(3)|upper_aerodigestive_tract(1)	7				OV - Ovarian serous cystadenocarcinoma(145;4.93e-07)|Epithelial(140;4.09e-06)|all cancers(34;3.78e-05)		TGATTGCACACGACGTGGATC	0.522													9	35					0	0	1	0	0	T	136217156	C	T	136217156	2	4	28	1	0	0	0	0	0	0	0	1	13652	535	19	1		1	RPL7A	9	136217156	Silent	SNP	C	TCGA-DB-5279-01A-01D-1468-08	44290929	136217156	4996275	35	1214											
SHOC2	8036	broad.mit.edu	37	10	112745430	112745430	+	Missense_Mutation	SNP	C	C	A			TCGA-DB-5279-01A-01D-1468-08	TCGA-DB-5279-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	277aa1d8-ce6a-4e32-a267-73c33665ab97	1761720c-3e2f-4ce7-8551-b859117e150f	g.chr10:112745430C>A	ENST00000369452.4	+	3	1093	c.748C>A	c.(748-750)Ctt>Att	p.L250I	SHOC2_ENST00000265277.5_Intron|SHOC2_ENST00000489390.1_Intron	NM_007373.3	NP_031399.2	Q9UQ13	SHOC2_HUMAN	soc-2 suppressor of clear homolog (C. elegans)	250					fibroblast growth factor receptor signaling pathway|positive regulation of Ras protein signal transduction|Ras protein signal transduction	nucleus|protein phosphatase type 1 complex	protein phosphatase binding|protein phosphatase regulator activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|skin(2)	17				Epithelial(162;0.000796)|all cancers(201;0.011)|BRCA - Breast invasive adenocarcinoma(275;0.126)		TCACAATCAACTTGAACACCT	0.368													9	91					0.000442599	0.000453013	1	1	0	A	112745430	C	A	112745430	3	1	28	1	0	0	0	0	1	0	0	0	14342	565	20	4	754	4	SHOC2	10	112745430	Missense_Mutation	SNP	C	TCGA-DB-5279-01A-01D-1468-08		112745430	22789317	36	1215											
MRVI1	10335	broad.mit.edu	37	11	10615122	10615122	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-5279-01A-01D-1468-08	TCGA-DB-5279-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	277aa1d8-ce6a-4e32-a267-73c33665ab97	1761720c-3e2f-4ce7-8551-b859117e150f	g.chr11:10615122C>T	ENST00000547195.1	-	16	2319	c.1819G>A	c.(1819-1821)Gtt>Att	p.V607I	MRVI1_ENST00000545852.1_Missense_Mutation_p.V383I|MRVI1-AS1_ENST00000525578.1_RNA|MRVI1-AS1_ENST00000529979.1_RNA|MRVI1_ENST00000541483.1_Missense_Mutation_p.V492I|MRVI1_ENST00000552103.1_Missense_Mutation_p.V607I|MRVI1_ENST00000534266.2_Missense_Mutation_p.V383I|MRVI1_ENST00000436272.1_Missense_Mutation_p.V671I|MRVI1_ENST00000421747.1_Missense_Mutation_p.V689I|LYVE1_ENST00000531706.1_Intron|MRVI1_ENST00000423302.2_Missense_Mutation_p.V698I|MRVI1-AS1_ENST00000529829.1_RNA|MRVI1_ENST00000531107.1_Missense_Mutation_p.V690I|MRVI1_ENST00000424001.1_Missense_Mutation_p.V383I|MRVI1_ENST00000558540.1_Missense_Mutation_p.V383I|MRVI1_ENST00000527509.2_Missense_Mutation_p.V607I	NM_001100163.2|NM_001206881.1	NP_001093633.1|NP_001193810.1	Q9Y6F6	MRVI1_HUMAN	murine retrovirus integration site 1 homolog	671					platelet activation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)	22				all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)		ACCACAGCAACGCTGACCCTC	0.517													30	29					0	0	1	0	0	T	10615122	C	T	10615122	3	4	28	1	0	0	0	0	1	0	0	0	9902	536	19	1	666	1	MRVI1	11	10615122	Missense_Mutation	SNP	C	TCGA-DB-5279-01A-01D-1468-08		10615122	124391394	37	1216											
SART1	9092	broad.mit.edu	37	11	65733982	65733982	+	Silent	SNP	A	A	G			TCGA-DB-5279-01A-01D-1468-08	TCGA-DB-5279-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	277aa1d8-ce6a-4e32-a267-73c33665ab97	1761720c-3e2f-4ce7-8551-b859117e150f	g.chr11:65733982A>G	ENST00000312397.5	+	9	1235	c.1143A>G	c.(1141-1143)acA>acG	p.T381T		NM_005146.4	NP_005137.1	O43290	SNUT1_HUMAN	squamous cell carcinoma antigen recognized by T cells	381					cell cycle arrest|induction of apoptosis by intracellular signals|positive regulation of cytotoxic T cell differentiation|spliceosomal snRNP assembly	Cajal body|catalytic step 2 spliceosome|cytosol				endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						CCCTGAGCACAGTGGGGCCCC	0.677													5	15					0	0	1	0	0	G	65733982	A	G	65733982	2	3	28	1	0	0	0	0	0	0	0	1	13899	175	7	3		3	SART1	11	65733982	Silent	SNP	A	TCGA-DB-5279-01A-01D-1468-08	55118860	65733982	69272534	38	1217											
DLG2	1740	broad.mit.edu	37	11	84996386	84996386	+	Missense_Mutation	SNP	T	T	G			TCGA-DB-5279-01A-01D-1468-08	TCGA-DB-5279-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	277aa1d8-ce6a-4e32-a267-73c33665ab97	1761720c-3e2f-4ce7-8551-b859117e150f	g.chr11:84996386T>G	ENST00000376104.2	-	4	375	c.64A>C	c.(64-66)Aca>Cca	p.T22P	DLG2_ENST00000543673.1_Missense_Mutation_p.T22P	NM_001142699.1	NP_001136171.1	Q15700	DLG2_HUMAN	discs, large homolog 2 (Drosophila)	0						cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				TTTAGCAATGTCACCTCATAA	0.348													7	166					0	0	1	0	0	G	84996386	T	G	84996386	3	3	28	1	0	0	0	0	1	0	0	0	4583	1667	58	5	3168	5	DLG2	11	84996386	Missense_Mutation	SNP	T	TCGA-DB-5279-01A-01D-1468-08	19262404	84996386	50010130	39	1218											
HTR3A	3359	broad.mit.edu	37	11	113852031	113852031	+	Missense_Mutation	SNP	A	A	T			TCGA-DB-5279-01A-01D-1468-08	TCGA-DB-5279-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	277aa1d8-ce6a-4e32-a267-73c33665ab97	1761720c-3e2f-4ce7-8551-b859117e150f	g.chr11:113852031A>T	ENST00000504030.2	+	4	816	c.371A>T	c.(370-372)gAg>gTg	p.E124V	HTR3A_ENST00000355556.2_Missense_Mutation_p.E130V|HTR3A_ENST00000299961.5_Missense_Mutation_p.E109V|HTR3A_ENST00000375498.2_Missense_Mutation_p.E130V|HTR3A_ENST00000535865.1_5'UTR|HTR3A_ENST00000506841.2_Missense_Mutation_p.E124V			P46098	5HT3A_HUMAN	5-hydroxytryptamine (serotonin) receptor 3A, ionotropic	124					digestion|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199)	CTCATCAATGAGTTGTGAGTA	0.512													23	32					0	0	1	0	0	T	113852031	A	T	113852031	3	4	28	1	0	0	0	0	1	0	0	0	7488	304	11	5	429	5	HTR3A	11	113852031	Missense_Mutation	SNP	A	TCGA-DB-5279-01A-01D-1468-08	28855645	113852031	21154485	40	1219											
MIPEP	4285	broad.mit.edu	37	13	24411745	24411745	+	Missense_Mutation	SNP	T	T	C			TCGA-DB-5279-01A-01D-1468-08	TCGA-DB-5279-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	277aa1d8-ce6a-4e32-a267-73c33665ab97	1761720c-3e2f-4ce7-8551-b859117e150f	g.chr13:24411745T>C	ENST00000382172.3	-	13	1587	c.1489A>G	c.(1489-1491)Atg>Gtg	p.M497V		NM_005932.3	NP_005923	Q99797	MIPEP_HUMAN	mitochondrial intermediate peptidase	497					protein processing involved in protein targeting to mitochondrion|proteolysis	mitochondrial matrix	metal ion binding|metalloendopeptidase activity			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(12)|prostate(2)|skin(1)	27		all_cancers(29;1.83e-22)|all_epithelial(30;8.75e-19)|all_lung(29;9.17e-18)|Lung SC(185;0.0225)|Breast(139;0.14)		all cancers(112;0.00389)|Epithelial(112;0.0266)|OV - Ovarian serous cystadenocarcinoma(117;0.0717)|Lung(94;0.207)|GBM - Glioblastoma multiforme(144;0.232)		GCATGTCCCATTTCATGGAAA	0.438													57	202					0	0	1	0	0	C	24411745	T	C	24411745	3	2	28	1	0	0	0	0	1	0	0	0	9640	1493	52	3	680	3	MIPEP	13	24411745	Missense_Mutation	SNP	T	TCGA-DB-5279-01A-01D-1468-08		24411745	90758133	41	1220											
FRY	10129	broad.mit.edu	37	13	32811758	32811758	+	Missense_Mutation	SNP	C	C	G			TCGA-DB-5279-01A-01D-1468-08	TCGA-DB-5279-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	277aa1d8-ce6a-4e32-a267-73c33665ab97	1761720c-3e2f-4ce7-8551-b859117e150f	g.chr13:32811758C>G	ENST00000380250.3	+	44	6549	c.6053C>G	c.(6052-6054)aCc>aGc	p.T2018S		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	2018					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		TCCTCAAAAACCAGAAGCTCA	0.537													16	34					0	0	1	0	0	G	32811758	C	G	32811758	3	3	28	1	0	0	0	0	1	0	0	0	6098	507	18	5	6227	5	FRY	13	32811758	Missense_Mutation	SNP	C	TCGA-DB-5279-01A-01D-1468-08	8400013	32811758	82358120	42	1221											
NBEA	26960	broad.mit.edu	37	13	35923243	35923243	+	Splice_Site	SNP	A	A	G			TCGA-DB-5279-01A-01D-1468-08	TCGA-DB-5279-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	277aa1d8-ce6a-4e32-a267-73c33665ab97	1761720c-3e2f-4ce7-8551-b859117e150f	g.chr13:35923243A>G	ENST00000540320.1	+	37	6437		c.e37-1		NBEA_ENST00000400445.3_Splice_Site|NBEA_ENST00000310336.4_Splice_Site|NBEA_ENST00000379939.2_Splice_Site			Q8NFP9	NBEA_HUMAN	neurobeachin							cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		TTTTCTTTTTAGATTACTGTG	0.313													16	40					0	0	1	0	0	G	35923243	A	G	35923243	5	3	28	1	0	0	0	0	0	0	1	0	10235	434	15	3	6048	3	NBEA	13	35923243	Splice_Site	SNP	A	TCGA-DB-5279-01A-01D-1468-08	3111485	35923243	79246635	43	1222											
TRPC4	7223	broad.mit.edu	37	13	38320234	38320234	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-5279-01A-01D-1468-08	TCGA-DB-5279-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	277aa1d8-ce6a-4e32-a267-73c33665ab97	1761720c-3e2f-4ce7-8551-b859117e150f	g.chr13:38320234C>T	ENST00000379705.3	-	3	1594	c.737G>A	c.(736-738)cGg>cAg	p.R246Q	TRPC4_ENST00000447043.1_Missense_Mutation_p.R246Q|TRPC4_ENST00000379681.3_Missense_Mutation_p.R246Q|TRPC4_ENST00000355779.2_Missense_Mutation_p.R246Q|TRPC4_ENST00000358477.2_Missense_Mutation_p.R246Q|TRPC4_ENST00000426868.2_Missense_Mutation_p.R246Q|TRPC4_ENST00000379673.2_Missense_Mutation_p.R246Q|TRPC4_ENST00000338947.5_Intron|TRPC4_ENST00000379679.1_Intron			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	246					axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		TTTGCACTGCCGTGACAGCTC	0.423													18	284					0	0	1	0	0	T	38320234	C	T	38320234	3	4	28	1	0	0	0	0	1	0	0	0	16641	652	23	1	2247	1	TRPC4	13	38320234	Missense_Mutation	SNP	C	TCGA-DB-5279-01A-01D-1468-08	2396991	38320234	76849644	44	1223											
MYH7	4625	broad.mit.edu	37	14	23884933	23884933	+	Silent	SNP	A	A	G			TCGA-DB-5279-01A-01D-1468-08	TCGA-DB-5279-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	277aa1d8-ce6a-4e32-a267-73c33665ab97	1761720c-3e2f-4ce7-8551-b859117e150f	g.chr14:23884933A>G	ENST00000355349.3	-	35	5224	c.5062T>C	c.(5062-5064)Ttg>Ctg	p.L1688L		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1688					adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		ACGGCACGCAACTCCTCCAGC	0.622													3	55					0	0	1	0	0	G	23884933	A	G	23884933	2	3	28	1	0	0	0	0	0	0	0	1	10087	40	2	3		3	MYH7	14	23884933	Silent	SNP	A	TCGA-DB-5279-01A-01D-1468-08		23884933	83464607	45	1224											
MDGA2	161357	broad.mit.edu	37	14	47311142	47311142	+	Silent	SNP	G	G	T			TCGA-DB-5279-01A-01D-1468-08	TCGA-DB-5279-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	277aa1d8-ce6a-4e32-a267-73c33665ab97	1761720c-3e2f-4ce7-8551-b859117e150f	g.chr14:47311142G>T	ENST00000426342.1	-	17	2922	c.2176C>A	c.(2176-2178)Cga>Aga	p.R726R	MDGA2_ENST00000399232.2_Silent_p.R955R|MDGA2_ENST00000439988.3_Silent_p.R1024R|MDGA2_ENST00000357362.3_Silent_p.R726R|MDGA2_ENST00000399222.3_Silent_p.R157R	NM_182830.3	NP_878250.2	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	955					spinal cord motor neuron differentiation	anchored to membrane|plasma membrane				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						GGTCACCTTCGAGGACTTAAG	0.388													3	53					1	1	1	1	0	T	47311142	G	T	47311142	2	4	28	1	0	0	0	0	0	0	0	1	9457	1066	37	5		5	MDGA2	14	47311142	Silent	SNP	G	TCGA-DB-5279-01A-01D-1468-08	23426209	47311142	60038398	46	1225											
TJP1	7082	broad.mit.edu	37	15	30024898	30024898	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-5279-01A-01D-1468-08	TCGA-DB-5279-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	277aa1d8-ce6a-4e32-a267-73c33665ab97	1761720c-3e2f-4ce7-8551-b859117e150f	g.chr15:30024898C>T	ENST00000346128.6	-	14	2332	c.1858G>A	c.(1858-1860)Gat>Aat	p.D620N	TJP1_ENST00000400011.2_Missense_Mutation_p.D624N|TJP1_ENST00000356107.6_Missense_Mutation_p.D620N|TJP1_ENST00000545208.2_Missense_Mutation_p.D620N	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN	tight junction protein 1	620	Guanylate kinase-like.				cell-cell junction assembly|cellular component disassembly involved in apoptosis	basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		GCGGACAAATCCTCTCTGCTT	0.433													46	95					0	0	1	0	0	T	30024898	C	T	30024898	3	4	28	1	0	0	0	0	1	0	0	0	15989	855	30	2	3448	2	TJP1	15	30024898	Missense_Mutation	SNP	C	TCGA-DB-5279-01A-01D-1468-08		30024898	72506494	47	1226											
FSIP1	161835	broad.mit.edu	37	15	39910063	39910063	+	Silent	SNP	C	C	T	rs144527032	byFrequency	TCGA-DB-5279-01A-01D-1468-08	TCGA-DB-5279-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	277aa1d8-ce6a-4e32-a267-73c33665ab97	1761720c-3e2f-4ce7-8551-b859117e150f	g.chr15:39910063C>T	ENST00000350221.3	-	11	1781	c.1572G>A	c.(1570-1572)tcG>tcA	p.S524S		NM_152597.4	NP_689810.3	Q8NA03	FSIP1_HUMAN	fibrous sheath interacting protein 1	524										NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	23		all_cancers(109;2.66e-19)|all_epithelial(112;2.66e-16)|Lung NSC(122;1.5e-11)|all_lung(180;4.03e-10)|Melanoma(134;0.0575)|Ovarian(310;0.0827)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;8.22e-06)|BRCA - Breast invasive adenocarcinoma(123;0.142)		CAAGAGTCTTCGACATAAAAT	0.398													84	51					0	0	1	0	0	T	39910063	C	T	39910063	2	4	28	1	0	0	0	0	0	0	0	1	6109	871	31	1		1	FSIP1	15	39910063	Silent	SNP	C	TCGA-DB-5279-01A-01D-1468-08	9885165	39910063	62621329	48	1227											
ZNF592	9640	broad.mit.edu	37	15	85326612	85326612	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DB-5279-01A-01D-1468-08	TCGA-DB-5279-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	277aa1d8-ce6a-4e32-a267-73c33665ab97	1761720c-3e2f-4ce7-8551-b859117e150f	g.chr15:85326612C>T	ENST00000299927.3	+	1	728	c.706C>T	c.(706-708)Cga>Tga	p.R236*	ZNF592_ENST00000560079.2_Nonsense_Mutation_p.R236*			Q92610	ZN592_HUMAN	zinc finger protein 592	236					cell death|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(143;0.0587)			GGATGCCACTCGATTCTTCGG	0.567													26	99					0	0	1	0	0	T	85326612	C	T	85326612	4	4	28	1	0	0	0	0	0	1	0	0	18079	876	31	1	708	1	ZNF592	15	85326612	Nonsense_Mutation	SNP	C	TCGA-DB-5279-01A-01D-1468-08	45416549	85326612	17204780	49	1228											
CIITA	4261	broad.mit.edu	37	16	10997737	10997737	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DB-5279-01A-01D-1468-08	TCGA-DB-5279-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	277aa1d8-ce6a-4e32-a267-73c33665ab97	1761720c-3e2f-4ce7-8551-b859117e150f	g.chr16:10997737C>T	ENST00000324288.8	+	9	1055	c.922C>T	c.(922-924)Cga>Tga	p.R308*	CIITA_ENST00000381835.5_Nonsense_Mutation_p.R259*|CIITA_ENST00000537380.1_3'UTR	NM_000246.3	NP_000237	P33076	C2TA_HUMAN	class II, major histocompatibility complex, transactivator	308					interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent	nucleus	activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding			central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						CCTGACCTCCCGAGCAAACAT	0.592			T	"FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"	"PMBL, Hodgkin Lymphona, "								30	99					0	0	1	0	0	T	10997737	C	T	10997737	4	4	28	1	0	0	0	0	0	1	0	0	3450	644	23	1	956	1	CIITA	16	10997737	Nonsense_Mutation	SNP	C	TCGA-DB-5279-01A-01D-1468-08		10997737	79357016	50	1229											
ITGAL	3683	broad.mit.edu	37	16	30530025	30530025	+	Silent	SNP	C	C	T			TCGA-DB-5279-01A-01D-1468-08	TCGA-DB-5279-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	277aa1d8-ce6a-4e32-a267-73c33665ab97	1761720c-3e2f-4ce7-8551-b859117e150f	g.chr16:30530025C>T	ENST00000356798.6	+	29	3393	c.3213C>T	c.(3211-3213)aaC>aaT	p.N1071N	ITGAL_ENST00000358164.5_Silent_p.N987N|ITGAL_ENST00000433423.2_Silent_p.N305N	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	1071					blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	integrin complex	cell adhesion molecule binding|receptor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Efalizumab(DB00095)	ATGGCAGCAACGCCTCCCTGG	0.612													12	45					0	0	1	0	0	T	30530025	C	T	30530025	2	4	28	1	0	0	0	0	0	0	0	1	7930	535	19	1		1	ITGAL	16	30530025	Silent	SNP	C	TCGA-DB-5279-01A-01D-1468-08	19532288	30530025	59824728	51	1230											
TRPV3	162514	broad.mit.edu	37	17	3458040	3458040	+	Silent	SNP	G	G	A			TCGA-DB-5279-01A-01D-1468-08	TCGA-DB-5279-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	277aa1d8-ce6a-4e32-a267-73c33665ab97	1761720c-3e2f-4ce7-8551-b859117e150f	g.chr17:3458040G>A	ENST00000301365.4	-	2	236	c.105C>T	c.(103-105)acC>acT	p.T35T	TRPV3_ENST00000576742.1_Silent_p.T35T|TRPV3_ENST00000572519.1_Silent_p.T35T			Q8NET8	TRPV3_HUMAN	transient receptor potential cation channel, subfamily V, member 3	35						integral to membrane	calcium channel activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(12)|ovary(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	35					Menthol(DB00825)	TCTTTGTGGGGGTGATCTCCG	0.657													25	25					0	0	1	0	0	A	3458040	G	A	3458040	2	1	28	1	0	0	0	0	0	0	0	1	16658	1219	43	2		2	TRPV3	17	3458040	Silent	SNP	G	TCGA-DB-5279-01A-01D-1468-08		3458040	77737170	52	1231											
ABHD15	116236	broad.mit.edu	37	17	27893210	27893210	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-5279-01A-01D-1468-08	TCGA-DB-5279-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	277aa1d8-ce6a-4e32-a267-73c33665ab97	1761720c-3e2f-4ce7-8551-b859117e150f	g.chr17:27893210C>T	ENST00000307201.4	-	1	945	c.775G>A	c.(775-777)Gcc>Acc	p.A259T	RP11-68I3.2_ENST00000581474.1_RNA	NM_198147.2	NP_937790.2	Q6UXT9	ABH15_HUMAN	abhydrolase domain containing 15	259						extracellular region	carboxylesterase activity			breast(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	10						ATGCAGGCGGCGCCTGTCACG	0.711													9	3					0	0	1	0	0	T	27893210	C	T	27893210	3	4	28	1	0	0	0	0	1	0	0	0	81	768	27	1	639	1	ABHD15	17	27893210	Missense_Mutation	SNP	C	TCGA-DB-5279-01A-01D-1468-08	24435170	27893210	53302000	53	1232											
ABCC3	8714	broad.mit.edu	37	17	48741328	48741328	+	Missense_Mutation	SNP	C	C	G			TCGA-DB-5279-01A-01D-1468-08	TCGA-DB-5279-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	277aa1d8-ce6a-4e32-a267-73c33665ab97	1761720c-3e2f-4ce7-8551-b859117e150f	g.chr17:48741328C>G	ENST00000285238.8	+	10	1274	c.1194C>G	c.(1192-1194)aaC>aaG	p.N398K	ABCC3_ENST00000427699.1_Missense_Mutation_p.N398K	NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 3	398	ABC transmembrane type-1 1.				bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Glibenclamide(DB01016)	TTATCACCAACTCAGTCAAAC	0.587													8	90					0	0	1	0	0	G	48741328	C	G	48741328	3	3	28	1	0	0	0	0	1	0	0	0	54	564	20	4	1232	4	ABCC3	17	48741328	Missense_Mutation	SNP	C	TCGA-DB-5279-01A-01D-1468-08	20848118	48741328	32453882	54	1233											
ATP8B3	148229	broad.mit.edu	37	19	1785266	1785266	+	Silent	SNP	G	G	A			TCGA-DB-5279-01A-01D-1468-08	TCGA-DB-5279-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	277aa1d8-ce6a-4e32-a267-73c33665ab97	1761720c-3e2f-4ce7-8551-b859117e150f	g.chr19:1785266G>A	ENST00000539485.1	-	27	3687	c.3454C>T	c.(3454-3456)Ctg>Ttg	p.L1152L	ATP8B3_ENST00000310127.6_Silent_p.L1142L|ATP8B3_ENST00000525591.1_Silent_p.L1105L			O60423	AT8B3_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 3	1142					ATP biosynthetic process		ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23		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)		GCCACGCACAGGGCGGTCCAG	0.607													3	14					0	0	1	0	0	A	1785266	G	A	1785266	2	1	28	1	0	0	0	0	0	0	0	1	1194	991	35	2		2	ATP8B3	19	1785266	Silent	SNP	G	TCGA-DB-5279-01A-01D-1468-08		1785266	57343717	55	1234											
SAFB2	9667	broad.mit.edu	37	19	5587939	5587939	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-5279-01A-01D-1468-08	TCGA-DB-5279-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	277aa1d8-ce6a-4e32-a267-73c33665ab97	1761720c-3e2f-4ce7-8551-b859117e150f	g.chr19:5587939G>A	ENST00000252542.4	-	19	2842	c.2578C>T	c.(2578-2580)Cgc>Tgc	p.R860C		NM_014649.2	NP_055464.1	Q14151	SAFB2_HUMAN	scaffold attachment factor B2	860	Gly-rich.|Interacts with SAFB1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|nucleotide binding|protein binding|RNA binding			endometrium(3)|kidney(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				UCEC - Uterine corpus endometrioid carcinoma (162;0.000228)		TGCCAGGCGCGTGCCTGGTGC	0.662													4	12					0	0	1	0	0	A	5587939	G	A	5587939	3	1	28	1	0	0	0	0	1	0	0	0	13859	1145	40	1	295	1	SAFB2	19	5587939	Missense_Mutation	SNP	G	TCGA-DB-5279-01A-01D-1468-08	3802673	5587939	53541044	56	1235											
MAG	4099	broad.mit.edu	37	19	35802842	35802842	+	Silent	SNP	C	C	T			TCGA-DB-5279-01A-01D-1468-08	TCGA-DB-5279-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	277aa1d8-ce6a-4e32-a267-73c33665ab97	1761720c-3e2f-4ce7-8551-b859117e150f	g.chr19:35802842C>T	ENST00000361922.4	+	10	1788	c.1638C>T	c.(1636-1638)ccC>ccT	p.P546P	MAG_ENST00000593348.1_3'UTR|MAG_ENST00000537831.2_Silent_p.P521P|MAG_ENST00000392213.3_Silent_p.P546P	NM_080600.2	NP_542167.1	P20916	MAG_HUMAN	myelin associated glycoprotein	546					blood coagulation|cell adhesion|leukocyte migration|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane	sugar binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(11)|skin(2)|upper_aerodigestive_tract(2)	34	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			CAGAGAGCCCCAGCTTCTCGG	0.607													11	1					0	0	1	0	0	T	35802842	C	T	35802842	2	4	28	1	0	0	0	0	0	0	0	1	9208	581	21	2		2	MAG	19	35802842	Silent	SNP	C	TCGA-DB-5279-01A-01D-1468-08	30214903	35802842	23326141	57	1236											
ZNF546	339327	broad.mit.edu	37	19	40520711	40520711	+	Missense_Mutation	SNP	C	C	G			TCGA-DB-5279-01A-01D-1468-08	TCGA-DB-5279-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	277aa1d8-ce6a-4e32-a267-73c33665ab97	1761720c-3e2f-4ce7-8551-b859117e150f	g.chr19:40520711C>G	ENST00000347077.4	+	7	1750	c.1534C>G	c.(1534-1536)Ctc>Gtc	p.L512V	ZNF546_ENST00000600094.1_Missense_Mutation_p.L486V|ZNF546_ENST00000596894.1_Intron	NM_178544.3	NP_848639.2	Q86UE3	ZN546_HUMAN	zinc finger protein 546	512					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(15)|lung(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	34	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					TCGCTATCATCTCACTCAACA	0.403													41	16					0	0	1	0	0	G	40520711	C	G	40520711	3	3	28	1	0	0	0	0	1	0	0	0	18035	913	32	4	1552	4	ZNF546	19	40520711	Missense_Mutation	SNP	C	TCGA-DB-5279-01A-01D-1468-08	4717869	40520711	18608272	58	1237											
SLC17A7	57030	broad.mit.edu	37	19	49933845	49933845	+	Silent	SNP	C	C	T			TCGA-DB-5279-01A-01D-1468-08	TCGA-DB-5279-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	277aa1d8-ce6a-4e32-a267-73c33665ab97	1761720c-3e2f-4ce7-8551-b859117e150f	g.chr19:49933845C>T	ENST00000221485.3	-	12	1785	c.1614G>A	c.(1612-1614)ccG>ccA	p.P538P	SLC17A7_ENST00000600601.1_Silent_p.P471P|SLC17A7_ENST00000543531.1_Silent_p.P526P	NM_020309.3	NP_064705.1	Q9P2U7	VGLU1_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 7	538	Pro-rich.				glutamate secretion|neurotransmitter secretion	cell junction|clathrin sculpted glutamate transport vesicle membrane|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|sodium-dependent phosphate transmembrane transporter activity|sodium:inorganic phosphate symporter activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	26		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(486;0.0245)		CATAGGAGGGCGGGGGTGCAG	0.647													9	8					0	0	1	0	0	T	49933845	C	T	49933845	2	4	28	1	0	0	0	0	0	0	0	1	14477	755	27	1		1	SLC17A7	19	49933845	Silent	SNP	C	TCGA-DB-5279-01A-01D-1468-08	9413134	49933845	9195138	59	1238											
CYP24A1	1591	broad.mit.edu	37	20	52779339	52779339	+	Missense_Mutation	SNP	A	A	T			TCGA-DB-5279-01A-01D-1468-08	TCGA-DB-5279-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	277aa1d8-ce6a-4e32-a267-73c33665ab97	1761720c-3e2f-4ce7-8551-b859117e150f	g.chr20:52779339A>T	ENST00000216862.3	-	7	1300	c.907T>A	c.(907-909)Tgt>Agt	p.C303S	CYP24A1_ENST00000395954.3_Missense_Mutation_p.C161S|CYP24A1_ENST00000395955.3_Missense_Mutation_p.C303S	NM_000782.4	NP_000773.2	Q07973	CP24A_HUMAN	cytochrome P450, family 24, subfamily A, polypeptide 1	303					hormone biosynthetic process|osteoblast differentiation|vitamin D catabolic process|vitamin D receptor signaling pathway|xenobiotic metabolic process	mitochondrial inner membrane	1-alpha,25-dihydroxyvitamin D3 24-hydroxylase activity|electron carrier activity|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen			breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Lung NSC(4;1.08e-05)|all_lung(4;2.7e-05)		STAD - Stomach adenocarcinoma(23;0.206)		Calcidiol(DB00146)|Calcitriol(DB00136)|Cholecalciferol(DB00169)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)	TAAATGTCACAAAGGAAATCT	0.463													52	55					0	0	1	0	0	T	52779339	A	T	52779339	3	4	28	1	0	0	0	0	1	0	0	0	4177	130	5	5	657	5	CYP24A1	20	52779339	Missense_Mutation	SNP	A	TCGA-DB-5279-01A-01D-1468-08		52779339	10246181	60	1239											
STMN3	50861	broad.mit.edu	37	20	62272736	62272736	+	Silent	SNP	G	G	A			TCGA-DB-5279-01A-01D-1468-08	TCGA-DB-5279-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	277aa1d8-ce6a-4e32-a267-73c33665ab97	1761720c-3e2f-4ce7-8551-b859117e150f	g.chr20:62272736G>A	ENST00000370053.1	-	5	579	c.498C>T	c.(496-498)gcC>gcT	p.A166A	STMN3_ENST00000540534.1_Silent_p.A155A	NM_001276310.1|NM_015894.2	NP_001263239.1|NP_056978.2	Q9NZ72	STMN3_HUMAN	stathmin-like 3	166					cytoplasmic microtubule organization|intracellular signal transduction|negative regulation of Rac protein signal transduction|neuron projection development|regulation of cytoskeleton organization|regulation of Rac GTPase activity	cytoplasm	protein domain specific binding			kidney(1)|large_intestine(1)|lung(5)|prostate(1)	8	all_cancers(38;2.31e-11)|all_epithelial(29;7.76e-13)		Epithelial(9;1.9e-09)|all cancers(9;1.22e-08)|BRCA - Breast invasive adenocarcinoma(10;8.86e-06)|OV - Ovarian serous cystadenocarcinoma(5;0.00559)			TGCGCACCTCGGCCGCGTGCA	0.716													5	3					0	0	1	0	0	A	62272736	G	A	62272736	2	1	28	1	0	0	0	0	0	0	0	1	15366	1103	39	1		1	STMN3	20	62272736	Silent	SNP	G	TCGA-DB-5279-01A-01D-1468-08	9493397	62272736	752784	61	1240											
TPST2	8459	broad.mit.edu	37	22	26937282	26937282	+	Silent	SNP	G	G	A	rs146078388	byFrequency	TCGA-DB-5279-01A-01D-1468-08	TCGA-DB-5279-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	277aa1d8-ce6a-4e32-a267-73c33665ab97	1761720c-3e2f-4ce7-8551-b859117e150f	g.chr22:26937282G>A	ENST00000338754.4	-	3	585	c.315C>T	c.(313-315)cgC>cgT	p.R105R	TPST2_ENST00000398110.2_Silent_p.R105R|TPST2_ENST00000403880.1_Silent_p.R105R	NM_003595.3	NP_003586.3	O60704	TPST2_HUMAN	tyrosylprotein sulfotransferase 2	105					peptidyl-tyrosine sulfation	endoplasmic reticulum|Golgi membrane|integral to membrane|membrane fraction	protein-tyrosine sulfotransferase activity			central_nervous_system(1)|large_intestine(1)|lung(5)	7						TGGCCAGCACGCGCGGGATGA	0.706													7	25					0	0	1	0	0	A	26937282	G	A	26937282	2	1	28	1	0	0	0	0	0	0	0	1	16489	1074	38	1		1	TPST2	22	26937282	Silent	SNP	G	TCGA-DB-5279-01A-01D-1468-08		26937282	24367284	62	1241											
MICALL1	85377	broad.mit.edu	37	22	38323452	38323452	+	Silent	SNP	G	G	A			TCGA-DB-5279-01A-01D-1468-08	TCGA-DB-5279-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	277aa1d8-ce6a-4e32-a267-73c33665ab97	1761720c-3e2f-4ce7-8551-b859117e150f	g.chr22:38323452G>A	ENST00000215957.6	+	9	1626	c.1500G>A	c.(1498-1500)ccG>ccA	p.P500P	MICALL1_ENST00000402631.1_3'UTR	NM_033386.3	NP_203744.1	Q8N3F8	MILK1_HUMAN	MICAL-like 1	500	Pro-rich.					cytoplasm|cytoskeleton	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	24	Melanoma(58;0.045)					ACTCGGAGCCGCCCTCGGCCA	0.687													11	15					0	0	1	0	0	A	38323452	G	A	38323452	2	1	28	1	0	0	0	0	0	0	0	1	9621	1074	38	1		1	MICALL1	22	38323452	Silent	SNP	G	TCGA-DB-5279-01A-01D-1468-08	11386170	38323452	12981114	63	1242											
MAGEC1	9947	broad.mit.edu	37	X	140995929	140995929	+	Silent	SNP	C	C	T			TCGA-DB-5279-01A-01D-1468-08	TCGA-DB-5279-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	277aa1d8-ce6a-4e32-a267-73c33665ab97	1761720c-3e2f-4ce7-8551-b859117e150f	g.chrX:140995929C>T	ENST00000285879.4	+	4	3025	c.2739C>T	c.(2737-2739)gaC>gaT	p.D913D	MAGEC1_ENST00000406005.2_5'UTR	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	913	MAGE.						protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					AAAAGGTGGACGAGTTGGCGC	0.488										HNSCC(15;0.026)			12	182					0	0	1	0	0	T	140995929	C	T	140995929	2	4	28	1	0	0	0	0	0	0	0	1	9230	535	19	1		1	MAGEC1	23	140995929	Silent	SNP	C	TCGA-DB-5279-01A-01D-1468-08		140995929	14274631	64	1243											
MYOM3	127294	broad.mit.edu	37	1	24419503	24419503	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-5280-01A-01D-1468-08	TCGA-DB-5280-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef91c83b-6752-418b-9ffe-68c5a518f96a	f0f00150-b136-4274-a932-460ad5b990f7	g.chr1:24419503G>A	ENST00000330966.7	-	10	1189	c.1027C>T	c.(1027-1029)Ctc>Ttc	p.L343F	MYOM3_ENST00000374434.3_Missense_Mutation_p.L342F|MYOM3_ENST00000329601.7_Missense_Mutation_p.L342F|MYOM3_ENST00000475306.1_5'UTR			Q5VTT5	MYOM3_HUMAN	myomesin 3	342	Ig-like C2-type 2.									NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		ACCATGTAGAGCCCCTCGTCC	0.637													19	20					0	0	0.575678	0	0	A	24419503	G	A	24419503	3	1	29	1	0	0	0	0	1	0	0	0	10141	971	34	2	3401	2	MYOM3	1	24419503	Missense_Mutation	SNP	G	TCGA-DB-5280-01A-01D-1468-08		24419503	224831118	1	1244											
ZCCHC11	23318	broad.mit.edu	37	1	52889613	52889613	+	Silent	SNP	C	C	T			TCGA-DB-5280-01A-01D-1468-08	TCGA-DB-5280-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef91c83b-6752-418b-9ffe-68c5a518f96a	f0f00150-b136-4274-a932-460ad5b990f7	g.chr1:52889613C>T	ENST00000371544.3	-	30	5191	c.4929G>A	c.(4927-4929)tcG>tcA	p.S1643S	ZCCHC11_ENST00000257177.4_Silent_p.S1644S	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11	1643					miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance	cytoplasm|nucleolus	nucleic acid binding|protein binding|RNA uridylyltransferase activity|zinc ion binding			NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						CGCATTACTCCGACACGTTTC	0.507													16	19					0	0	0.539581	0	0	T	52889613	C	T	52889613	2	4	29	1	0	0	0	0	0	0	0	1	17639	639	23	1		1	ZCCHC11	1	52889613	Silent	SNP	C	TCGA-DB-5280-01A-01D-1468-08	28470110	52889613	196361008	2	1245											
LCE2C	353140	broad.mit.edu	37	1	152648675	152648675	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-5280-01A-01D-1468-08	TCGA-DB-5280-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef91c83b-6752-418b-9ffe-68c5a518f96a	f0f00150-b136-4274-a932-460ad5b990f7	g.chr1:152648675G>A	ENST00000368783.1	+	2	239	c.184G>A	c.(184-186)Ggc>Agc	p.G62S	LCE2B_ENST00000417924.2_Intron	NM_178429.2	NP_848516.1	Q5TA81	LCE2C_HUMAN	late cornified envelope 2C	62	Cys-rich.				keratinization					endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)	13	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CAGCTCTGGGGGCTGCTGCAG	0.662													5	155					0	0	0.217242	0	0	A	152648675	G	A	152648675	3	1	29	1	0	0	0	0	1	0	0	0	8706	1232	43	2	186	2	LCE2C	1	152648675	Missense_Mutation	SNP	G	TCGA-DB-5280-01A-01D-1468-08	99759062	152648675	96601946	3	1246											
FCRL3	115352	broad.mit.edu	37	1	157665373	157665373	+	Missense_Mutation	SNP	G	G	T			TCGA-DB-5280-01A-01D-1468-08	TCGA-DB-5280-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef91c83b-6752-418b-9ffe-68c5a518f96a	f0f00150-b136-4274-a932-460ad5b990f7	g.chr1:157665373G>T	ENST00000368184.3	-	8	1448	c.1157C>A	c.(1156-1158)aCc>aAc	p.T386N	FCRL3_ENST00000368186.5_Missense_Mutation_p.T386N|FCRL3_ENST00000473231.1_5'UTR|RP11-367J7.3_ENST00000453692.1_RNA	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN	Fc receptor-like 3	386	Ig-like C2-type 5.					integral to membrane|plasma membrane	receptor activity			autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					AGCCCTGAAGGTGAGGACAGG	0.557													24	47					3.28513e-13	3.85645e-13	0.667858	1	0	T	157665373	G	T	157665373	3	4	29	1	0	0	0	0	1	0	0	0	5829	1261	44	5	1079	5	FCRL3	1	157665373	Missense_Mutation	SNP	G	TCGA-DB-5280-01A-01D-1468-08	5016698	157665373	91585248	4	1247											
FMO1	2326	broad.mit.edu	37	1	171254528	171254528	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-5280-01A-01D-1468-08	TCGA-DB-5280-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef91c83b-6752-418b-9ffe-68c5a518f96a	f0f00150-b136-4274-a932-460ad5b990f7	g.chr1:171254528G>A	ENST00000354841.4	+	8	1575	c.1444G>A	c.(1444-1446)Gaa>Aaa	p.E482K	FMO1_ENST00000367750.3_Missense_Mutation_p.E482K|FMO1_ENST00000469112.1_3'UTR|FMO1_ENST00000402921.2_Missense_Mutation_p.E419K	NM_001282692.1	NP_001269621.1	Q01740	FMO1_HUMAN	flavin containing monooxygenase 1	482					NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum lumen|integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					AGGAAAATGGGAAGGAGCCAG	0.502													41	69					0	0	0.840704	0	0	A	171254528	G	A	171254528	3	1	29	1	0	0	0	0	1	0	0	0	5987	1175	41	2	1474	2	FMO1	1	171254528	Missense_Mutation	SNP	G	TCGA-DB-5280-01A-01D-1468-08	13589155	171254528	77996093	5	1248											
OR1C1	26188	broad.mit.edu	37	1	247921610	247921610	+	Missense_Mutation	SNP	A	A	C			TCGA-DB-5280-01A-01D-1468-08	TCGA-DB-5280-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef91c83b-6752-418b-9ffe-68c5a518f96a	f0f00150-b136-4274-a932-460ad5b990f7	g.chr1:247921610A>C	ENST00000408896.2	-	1	372	c.99T>G	c.(97-99)tgT>tgG	p.C33W		NM_012353.2	NP_036485.2	Q15619	OR1C1_HUMAN	olfactory receptor, family 1, subfamily C, member 1	33					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(32)|skin(2)|upper_aerodigestive_tract(1)	46	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	OV - Ovarian serous cystadenocarcinoma(106;0.0168)			CTAAATACATACAGAGAAAGA	0.463													3	59					0	0	0.115264	0	0	C	247921610	A	C	247921610	3	2	29	1	0	0	0	0	1	0	0	0	11000	389	14	5	847	5	OR1C1	1	247921610	Missense_Mutation	SNP	A	TCGA-DB-5280-01A-01D-1468-08	76667082	247921610	1329011	6	1249											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-DB-5280-01A-01D-1468-08	TCGA-DB-5280-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef91c83b-6752-418b-9ffe-68c5a518f96a	f0f00150-b136-4274-a932-460ad5b990f7	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	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								40	66					0	0	0.859065	0	0	T	209113112	C	T	209113112	3	4	29	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-DB-5280-01A-01D-1468-08		209113112	34086261	7	1250											
FAM124B	79843	broad.mit.edu	37	2	225266432	225266432	+	Silent	SNP	A	A	G			TCGA-DB-5280-01A-01D-1468-08	TCGA-DB-5280-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef91c83b-6752-418b-9ffe-68c5a518f96a	f0f00150-b136-4274-a932-460ad5b990f7	g.chr2:225266432A>G	ENST00000389874.3	-	1	279	c.54T>C	c.(52-54)tcT>tcC	p.S18S	FAM124B_ENST00000243806.2_Silent_p.S18S|FAM124B_ENST00000409685.3_Silent_p.S18S	NM_024785.2	NP_079061.2	Q9H5Z6	F124B_HUMAN	family with sequence similarity 124B	18							protein binding			endometrium(2)|large_intestine(2)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	16		Renal(207;0.0112)|all_lung(227;0.0126)|Lung NSC(271;0.0161)|all_hematologic(139;0.138)		Epithelial(121;4.4e-10)|all cancers(144;2.02e-07)|Lung(261;0.00766)|LUSC - Lung squamous cell carcinoma(224;0.00825)		AGCCGTGCCCAGAGTTGGCAA	0.582													4	75					0	0	0.150653	0	0	G	225266432	A	G	225266432	2	3	29	1	0	0	0	0	0	0	0	1	5457	175	7	3		3	FAM124B	2	225266432	Silent	SNP	A	TCGA-DB-5280-01A-01D-1468-08	16153320	225266432	17932941	8	1251											
IL17RC	84818	broad.mit.edu	37	3	9959040	9959040	+	Missense_Mutation	SNP	G	G	A	rs112532783	byFrequency	TCGA-DB-5280-01A-01D-1468-08	TCGA-DB-5280-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef91c83b-6752-418b-9ffe-68c5a518f96a	f0f00150-b136-4274-a932-460ad5b990f7	g.chr3:9959040G>A	ENST00000295981.3	+	1	259	c.41G>A	c.(40-42)cGa>cAa	p.R14Q	IL17RC_ENST00000498214.1_3'UTR|IL17RC_ENST00000455057.1_Missense_Mutation_p.R14Q|IL17RC_ENST00000413608.1_Missense_Mutation_p.R14Q|IL17RC_ENST00000403601.3_Missense_Mutation_p.R14Q|IL17RC_ENST00000416074.2_5'UTR|IL17RC_ENST00000383812.4_Missense_Mutation_p.R14Q	NM_153461.3	NP_703191	Q8NAC3	I17RC_HUMAN	interleukin 17 receptor C	14						integral to membrane|plasma membrane	receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						GCACTGGGCCGAAGCCCAGTG	0.657													5	73					0	0	0.248553	0	0	A	9959040	G	A	9959040	3	1	29	1	0	0	0	0	1	0	0	0	7685	1058	37	1	43	1	IL17RC	3	9959040	Missense_Mutation	SNP	G	TCGA-DB-5280-01A-01D-1468-08		9959040	188063390	9	1252											
IQCF1	132141	broad.mit.edu	37	3	51929062	51929062	+	Silent	SNP	G	G	A			TCGA-DB-5280-01A-01D-1468-08	TCGA-DB-5280-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef91c83b-6752-418b-9ffe-68c5a518f96a	f0f00150-b136-4274-a932-460ad5b990f7	g.chr3:51929062G>A	ENST00000310914.5	-	4	524	c.462C>T	c.(460-462)atC>atT	p.I154I		NM_152397.2	NP_689610.2	Q8N6M8	IQCF1_HUMAN	IQ motif containing F1	154										central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		AGTAAGCCTGGATGATGCGAA	0.607													10	280					0	0	0.38729	0	0	A	51929062	G	A	51929062	2	1	29	1	0	0	0	0	0	0	0	1	7851	1164	41	2		2	IQCF1	3	51929062	Silent	SNP	G	TCGA-DB-5280-01A-01D-1468-08	41970022	51929062	146093368	10	1253											
ADH1B	125	broad.mit.edu	37	4	100235204	100235204	+	Missense_Mutation	SNP	A	A	T			TCGA-DB-5280-01A-01D-1468-08	TCGA-DB-5280-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef91c83b-6752-418b-9ffe-68c5a518f96a	f0f00150-b136-4274-a932-460ad5b990f7	g.chr4:100235204A>T	ENST00000305046.8	-	6	669	c.602T>A	c.(601-603)cTg>cAg	p.L201Q	ADH1B_ENST00000394887.3_Missense_Mutation_p.L161Q			P00325	ADH1B_HUMAN	alcohol dehydrogenase 1B (class I), beta polypeptide	201					ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	33				OV - Ovarian serous cystadenocarcinoma(123;1.02e-07)	Fomepizole(DB01213)|NADH(DB00157)	GACCCCTCCCAGGCCAAACAC	0.463													13	364					0	0	0.411799	0	0	T	100235204	A	T	100235204	3	4	29	1	0	0	0	0	1	0	0	0	307	188	7	5	541	5	ADH1B	4	100235204	Missense_Mutation	SNP	A	TCGA-DB-5280-01A-01D-1468-08		100235204	90919072	11	1254											
MYO10	4651	broad.mit.edu	37	5	16694555	16694555	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-5280-01A-01D-1468-08	TCGA-DB-5280-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef91c83b-6752-418b-9ffe-68c5a518f96a	f0f00150-b136-4274-a932-460ad5b990f7	g.chr5:16694555C>T	ENST00000513610.1	-	27	4179	c.3725G>A	c.(3724-3726)cGc>cAc	p.R1242H	MYO10_ENST00000274203.9_Missense_Mutation_p.R599H|MYO10_ENST00000505695.1_Missense_Mutation_p.R581H|MYO10_ENST00000515803.1_Missense_Mutation_p.R581H|MYO10_ENST00000427430.2_Missense_Mutation_p.R599H	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	1242	PH 1.				axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						CTTGGACTGGCGGAGGACAAA	0.567													24	186					0	0	0.681144	0	0	T	16694555	C	T	16694555	3	4	29	1	0	0	0	0	1	0	0	0	10110	768	27	1	2511	1	MYO10	5	16694555	Missense_Mutation	SNP	C	TCGA-DB-5280-01A-01D-1468-08		16694555	164220705	12	1255											
PRPH2	5961	broad.mit.edu	37	6	42689525	42689525	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-5280-01A-01D-1468-08	TCGA-DB-5280-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef91c83b-6752-418b-9ffe-68c5a518f96a	f0f00150-b136-4274-a932-460ad5b990f7	g.chr6:42689525C>T	ENST00000230381.5	-	1	787	c.548G>A	c.(547-549)cGc>cAc	p.R183H		NM_000322.4	NP_000313.2	P23942	PRPH2_HUMAN	peripherin 2 (retinal degeneration, slow)	183					cell adhesion|visual perception	integral to membrane		p.R183H(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	18	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.00178)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0904)			GTCCAGGTAGCGATTGCTGAT	0.493													7	273					0	0	0.248553	0	0	T	42689525	C	T	42689525	3	4	29	1	0	0	0	0	1	0	0	0	12629	768	27	1	504	1	PRPH2	6	42689525	Missense_Mutation	SNP	C	TCGA-DB-5280-01A-01D-1468-08		42689525	128425542	13	1256											
VNN1	8876	broad.mit.edu	37	6	133015129	133015129	+	Splice_Site	SNP	C	C	G			TCGA-DB-5280-01A-01D-1468-08	TCGA-DB-5280-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef91c83b-6752-418b-9ffe-68c5a518f96a	f0f00150-b136-4274-a932-460ad5b990f7	g.chr6:133015129C>G	ENST00000367928.4	-	3	547	c.534G>C	c.(532-534)aaG>aaC	p.K178N		NM_004666.2	NP_004657.2	O95497	VNN1_HUMAN	vanin 1	178	CN hydrolase.				acute inflammatory response|anti-apoptosis|cell-cell adhesion|cellular component movement|chronic inflammatory response|innate immune response|pantothenate metabolic process|positive regulation of T cell differentiation in thymus|response to oxidative stress	anchored to membrane|integral to membrane|plasma membrane	GPI anchor binding|pantetheine hydrolase activity			NS(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)	31	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.0027)|GBM - Glioblastoma multiforme(226;0.0189)		TTAATTTTACCTTATGGTAGC	0.373													4	85					0	0	0.184627	0	0	G	133015129	C	G	133015129	5	3	29	1	0	0	0	0	0	0	1	0	17242	695	24	4	1027	4	VNN1	6	133015129	Splice_Site	SNP	C	TCGA-DB-5280-01A-01D-1468-08	90325604	133015129	38099938	14	1257											
ZP3	7784	broad.mit.edu	37	7	76062809	76062809	+	Missense_Mutation	SNP	G	G	T			TCGA-DB-5280-01A-01D-1468-08	TCGA-DB-5280-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef91c83b-6752-418b-9ffe-68c5a518f96a	f0f00150-b136-4274-a932-460ad5b990f7	g.chr7:76062809G>T	ENST00000416245.1	+	3	1123	c.30G>T	c.(28-30)agG>agT	p.R10S	ZP3_ENST00000394857.3_Missense_Mutation_p.R186S|ZP3_ENST00000336517.4_Missense_Mutation_p.R135S			P21754	ZP3_HUMAN	zona pellucida glycoprotein 3 (sperm receptor)	186					binding of sperm to zona pellucida|blastocyst formation|egg coat formation|humoral immune response mediated by circulating immunoglobulin|intracellular protein transport|negative regulation of binding of sperm to zona pellucida|negative regulation of transcription, DNA-dependent|oocyte development|phosphatidylinositol-mediated signaling|positive regulation of acrosomal vesicle exocytosis|positive regulation of acrosome reaction|positive regulation of antral ovarian follicle growth|positive regulation of calcium ion import|positive regulation of calcium ion transport via store-operated calcium channel activity|positive regulation of humoral immune response|positive regulation of interferon-gamma production|positive regulation of interleukin-4 production|positive regulation of leukocyte migration|positive regulation of ovarian follicle development|positive regulation of phosphatidylinositol biosynthetic process|positive regulation of protein kinase activity|positive regulation of protein kinase B signaling cascade|positive regulation of T cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of type IV hypersensitivity|protein kinase C signaling cascade	endoplasmic reticulum|extracellular space|Golgi apparatus|integral to membrane|multivesicular body|outer acrosomal membrane|perinuclear region of cytoplasm|plasma membrane|proteinaceous extracellular matrix	acrosin binding|manganese ion transmembrane transporter activity|receptor activity|sugar binding			endometrium(1)|large_intestine(3)|lung(2)|skin(1)	7						CTGAGAAGAGGTCCCCCACCT	0.597													6	180					0.0215528	0.023752	0.217242	1	0	T	76062809	G	T	76062809	3	4	29	1	0	0	0	0	1	0	0	0	18259	1252	44	5	572	5	ZP3	7	76062809	Missense_Mutation	SNP	G	TCGA-DB-5280-01A-01D-1468-08		76062809	83075854	15	1258											
FOXP2	93986	broad.mit.edu	37	7	114269949	114269949	+	Silent	SNP	A	A	G			TCGA-DB-5280-01A-01D-1468-08	TCGA-DB-5280-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef91c83b-6752-418b-9ffe-68c5a518f96a	f0f00150-b136-4274-a932-460ad5b990f7	g.chr7:114269949A>G	ENST00000393500.3	+	11	1081	c.261A>G	c.(259-261)caA>caG	p.Q87Q	FOXP2_ENST00000350908.4_Silent_p.Q162Q|FOXP2_ENST00000393498.2_Silent_p.Q142Q|FOXP2_ENST00000403559.4_Silent_p.Q179Q|FOXP2_ENST00000360232.4_Silent_p.Q162Q|FOXP2_ENST00000393491.3_Silent_p.Q70Q|FOXP2_ENST00000393489.3_Silent_p.Q70Q|FOXP2_ENST00000408937.3_Silent_p.Q187Q|FOXP2_ENST00000378237.3_Silent_p.Q162Q|FOXP2_ENST00000393494.2_Silent_p.Q162Q|AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000390668.3_Silent_p.Q186Q			O15409	FOXP2_HUMAN	forkhead box P2	162	Gln-rich.				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding			breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						agcagcaacaacagcagcaac	0.488													2	7					0	0	0.248553	0	0	G	114269949	A	G	114269949	2	3	29	1	0	0	0	0	0	0	0	1	6061	40	2	3		3	FOXP2	7	114269949	Silent	SNP	A	TCGA-DB-5280-01A-01D-1468-08	38207140	114269949	44868714	16	1259											
LINGO2	158038	broad.mit.edu	37	9	27950110	27950110	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-5280-01A-01D-1468-08	TCGA-DB-5280-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef91c83b-6752-418b-9ffe-68c5a518f96a	f0f00150-b136-4274-a932-460ad5b990f7	g.chr9:27950110C>T	ENST00000379992.2	-	6	1009	c.560G>A	c.(559-561)tGc>tAc	p.C187Y	LINGO2_ENST00000308675.3_Missense_Mutation_p.C187Y	NM_152570.2	NP_689783.1	Q7L985	LIGO2_HUMAN	leucine rich repeat and Ig domain containing 2	187						integral to membrane				autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		TGTTAAGTTGCATTTCTCCAG	0.483													45	65					0	0	0.840704	0	0	T	27950110	C	T	27950110	3	4	29	1	0	0	0	0	1	0	0	0	8856	710	25	2	1264	2	LINGO2	9	27950110	Missense_Mutation	SNP	C	TCGA-DB-5280-01A-01D-1468-08		27950110	113263321	17	1260											
CARD16	114769	broad.mit.edu	37	11	104915359	104915359	+	Silent	SNP	G	G	A			TCGA-DB-5280-01A-01D-1468-08	TCGA-DB-5280-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef91c83b-6752-418b-9ffe-68c5a518f96a	f0f00150-b136-4274-a932-460ad5b990f7	g.chr11:104915359G>A	ENST00000375706.2	-	2	51	c.34C>T	c.(34-36)Ctg>Ttg	p.L12L	CARD16_ENST00000525374.1_Silent_p.L12L|CASP1_ENST00000415981.2_Intron|CARD16_ENST00000375704.3_Silent_p.L12L|CASP1_ENST00000598974.1_Intron|CASP1_ENST00000594519.1_Intron|CASP1_ENST00000593315.1_Intron	NM_001017534.1	NP_001017534.1			caspase recruitment domain family, member 16											endometrium(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	11						TGGATAAACAGCTTTCTCTTC	0.418													23	389					0	0	0.693898	0	0	A	104915359	G	A	104915359	2	1	29	1	0	0	0	0	0	0	0	1	2665	962	34	2		2	CARD16	11	104915359	Silent	SNP	G	TCGA-DB-5280-01A-01D-1468-08		104915359	30091157	18	1261											
FAM186B	84070	broad.mit.edu	37	12	49992644	49992644	+	Missense_Mutation	SNP	A	A	G	rs140386687	byFrequency	TCGA-DB-5280-01A-01D-1468-08	TCGA-DB-5280-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef91c83b-6752-418b-9ffe-68c5a518f96a	f0f00150-b136-4274-a932-460ad5b990f7	g.chr12:49992644A>G	ENST00000544141.1	-	5	2587	c.1988T>C	c.(1987-1989)aTt>aCt	p.I663T	FAM186B_ENST00000257894.2_Missense_Mutation_p.I753T|FAM186B_ENST00000551047.1_Intron			Q8IYM0	F186B_HUMAN	family with sequence similarity 186, member B	753						protein complex				breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CAGGCGGTCAATGTTTTCCAG	0.537													66	78					0	0	0.870114	0	0	G	49992644	A	G	49992644	3	3	29	1	0	0	0	0	1	0	0	0	5543	101	4	3	435	3	FAM186B	12	49992644	Missense_Mutation	SNP	A	TCGA-DB-5280-01A-01D-1468-08		49992644	83859251	19	1262											
VRK1	7443	broad.mit.edu	37	14	97321577	97321577	+	Missense_Mutation	SNP	A	A	G			TCGA-DB-5280-01A-01D-1468-08	TCGA-DB-5280-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef91c83b-6752-418b-9ffe-68c5a518f96a	f0f00150-b136-4274-a932-460ad5b990f7	g.chr14:97321577A>G	ENST00000216639.3	+	8	742	c.593A>G	c.(592-594)tAt>tGt	p.Y198C		NM_003384.2	NP_003375.1	Q99986	VRK1_HUMAN	vaccinia related kinase 1	198	Protein kinase.					cytoplasm|nucleolus	ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|endometrium(1)|large_intestine(5)|lung(3)|skin(1)|stomach(1)	12		Melanoma(154;0.155)		COAD - Colon adenocarcinoma(157;0.234)		TTGGTAGATTATGGCCTTGCT	0.393													78	106					0	0	0.870114	0	0	G	97321577	A	G	97321577	3	3	29	1	0	0	0	0	1	0	0	0	17279	449	16	3	619	3	VRK1	14	97321577	Missense_Mutation	SNP	A	TCGA-DB-5280-01A-01D-1468-08		97321577	10027963	20	1263											
TNFAIP2	7127	broad.mit.edu	37	14	103599762	103599762	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-5280-01A-01D-1468-08	TCGA-DB-5280-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef91c83b-6752-418b-9ffe-68c5a518f96a	f0f00150-b136-4274-a932-460ad5b990f7	g.chr14:103599762C>T	ENST00000560869.1	+	10	2248	c.1609C>T	c.(1609-1611)Cgc>Tgc	p.R537C	TNFAIP2_ENST00000451723.2_Missense_Mutation_p.R206C|TNFAIP2_ENST00000538222.1_Missense_Mutation_p.R20C|TNFAIP2_ENST00000333007.1_Missense_Mutation_p.R537C			Q03169	TNAP2_HUMAN	tumor necrosis factor, alpha-induced protein 2	537					angiogenesis|cell differentiation	extracellular space				NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	11		Melanoma(154;0.155)	Epithelial(46;0.191)			CAGCAAGGGGCGCCTGGTCCT	0.622													40	53					0	0	0.870114	0	0	T	103599762	C	T	103599762	3	4	29	1	0	0	0	0	1	0	0	0	16333	768	27	1	1643	1	TNFAIP2	14	103599762	Missense_Mutation	SNP	C	TCGA-DB-5280-01A-01D-1468-08	6278185	103599762	3749778	21	1264											
CSNK1G1	53944	broad.mit.edu	37	15	64506110	64506110	+	Missense_Mutation	SNP	T	T	C			TCGA-DB-5280-01A-01D-1468-08	TCGA-DB-5280-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef91c83b-6752-418b-9ffe-68c5a518f96a	f0f00150-b136-4274-a932-460ad5b990f7	g.chr15:64506110T>C	ENST00000303052.7	-	6	1081	c.658A>G	c.(658-660)Atc>Gtc	p.I220V	CSNK1G1_ENST00000607537.1_Missense_Mutation_p.I220V|CTD-2116N17.1_ENST00000606793.1_Missense_Mutation_p.I202V|CSNK1G1_ENST00000303032.6_Missense_Mutation_p.I220V	NM_022048.3	NP_071331.2	Q9HCP0	KC1G1_HUMAN	casein kinase 1, gamma 1	220	Protein kinase.				Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|urinary_tract(1)	13						TGCGTGTTGATAGACATATAT	0.383													8	218					0	0	0.27861	0	0	C	64506110	T	C	64506110	3	2	29	1	0	0	0	0	1	0	0	0	3979	1406	49	3	638	3	CSNK1G1	15	64506110	Missense_Mutation	SNP	T	TCGA-DB-5280-01A-01D-1468-08		64506110	38025282	22	1265											
TAT	6898	broad.mit.edu	37	16	71602180	71602180	+	Missense_Mutation	SNP	T	T	C			TCGA-DB-5280-01A-01D-1468-08	TCGA-DB-5280-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef91c83b-6752-418b-9ffe-68c5a518f96a	f0f00150-b136-4274-a932-460ad5b990f7	g.chr16:71602180T>C	ENST00000355962.4	-	12	1365	c.1232A>G	c.(1231-1233)gAg>gGg	p.E411G	RP11-432I5.1_ENST00000561529.1_RNA	NM_000353.2	NP_000344.1	P17735	ATTY_HUMAN	tyrosine aminotransferase	411					2-oxoglutarate metabolic process|glutamate metabolic process|L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	1-aminocyclopropane-1-carboxylate synthase activity|L-tyrosine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(3)	29		Ovarian(137;0.125)		Kidney(780;0.0157)	L-Glutamic Acid(DB00142)|L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Pyridoxal Phosphate(DB00114)	ATTCGGGTACTCAAAGCACTG	0.502													3	58					0	0	0.150653	0	0	C	71602180	T	C	71602180	3	2	29	1	0	0	0	0	1	0	0	0	15647	1551	54	3	136	3	TAT	16	71602180	Missense_Mutation	SNP	T	TCGA-DB-5280-01A-01D-1468-08		71602180	18752573	23	1266											
PKD1L2	114780	broad.mit.edu	37	16	81201441	81201441	+	RNA	DEL	G	G	-	rs35726804		TCGA-DB-5280-01A-01D-1468-08	TCGA-DB-5280-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef91c83b-6752-418b-9ffe-68c5a518f96a	f0f00150-b136-4274-a932-460ad5b990f7	g.chr16:81201441delG	ENST00000533478.1	-	0	1149				PKD1L2_ENST00000525539.1_RNA	NM_001278425.1	NP_001265354.1	Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						tctgcaagatggggggggaaa	0.567													4	2	---	---	---	---						-	81201441	G	-	81201441	6	5	29	0	1	1	0	1	0	0	0	0	12013	1363	47	0		0	PKD1L2	16	81201441	RNA	DEL	G	TCGA-DB-5280-01A-01D-1468-08	9599261	81201441	9153312	24	1267											
CAMTA2	23125	broad.mit.edu	37	17	4876949	4876949	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-5280-01A-01D-1468-08	TCGA-DB-5280-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef91c83b-6752-418b-9ffe-68c5a518f96a	f0f00150-b136-4274-a932-460ad5b990f7	g.chr17:4876949C>T	ENST00000361571.5	-	12	2540	c.2129G>A	c.(2128-2130)gGc>gAc	p.G710D	CAMTA2_ENST00000358183.4_Missense_Mutation_p.G711D|RP5-1050D4.2_ENST00000430920.1_RNA|CAMTA2_ENST00000381311.5_Missense_Mutation_p.G713D|CAMTA2_ENST00000348066.3_Missense_Mutation_p.G711D|CAMTA2_ENST00000414043.3_Missense_Mutation_p.G734D|CAMTA2_ENST00000572543.1_Missense_Mutation_p.G716D	NM_001171168.1	NP_001164639.1	O94983	CMTA2_HUMAN	calmodulin binding transcription activator 2	711					cardiac muscle hypertrophy in response to stress|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	calmodulin binding|chromatin binding|histone deacetylase binding|transcription factor binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						AAGGCTCATGCCCCGGAAGGG	0.647													4	68					0	0	0.150653	0	0	T	4876949	C	T	4876949	3	4	29	1	0	0	0	0	1	0	0	0	2632	739	26	2	1570	2	CAMTA2	17	4876949	Missense_Mutation	SNP	C	TCGA-DB-5280-01A-01D-1468-08		4876949	76318261	25	1268											
TP53	7157	broad.mit.edu	37	17	7577120	7577120	+	Missense_Mutation	SNP	C	C	T	rs28934576	by1000genomes	TCGA-DB-5280-01A-01D-1468-08	TCGA-DB-5280-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef91c83b-6752-418b-9ffe-68c5a518f96a	f0f00150-b136-4274-a932-460ad5b990f7	g.chr17:7577120C>T	ENST00000420246.2	-	8	950	c.818G>A	c.(817-819)cGt>cAt	p.R273H	TP53_ENST00000359597.4_Missense_Mutation_p.R273H|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.R273H|TP53_ENST00000445888.2_Missense_Mutation_p.R273H|TP53_ENST00000269305.4_Missense_Mutation_p.R273H	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	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).		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.R273H(521)|p.R273L(93)|p.R273P(32)|p.0?(8)|p.?(2)|p.R273fs*32(2)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273S(1)|p.E258fs*71(1)|p.R273fs*72(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.R273fs*33(1)|p.E271_R273delEVR(1)|p.V272_K292del21(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	0.542	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)			30	31					0	0	0.729181	0	0	T	7577120	C	T	7577120	3	4	29	1	0	0	0	0	1	0	0	0	16442	536	19	1	468	1	TP53	17	7577120	Missense_Mutation	SNP	C	TCGA-DB-5280-01A-01D-1468-08	2700171	7577120	73618090	26	1269											
TP53	7157	broad.mit.edu	37	17	7578466	7578466	+	Missense_Mutation	SNP	G	G	T			TCGA-DB-5280-01A-01D-1468-08	TCGA-DB-5280-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef91c83b-6752-418b-9ffe-68c5a518f96a	f0f00150-b136-4274-a932-460ad5b990f7	g.chr17:7578466G>T	ENST00000420246.2	-	5	596	c.464C>A	c.(463-465)aCc>aAc	p.T155N	TP53_ENST00000359597.4_Missense_Mutation_p.T155N|TP53_ENST00000413465.2_Missense_Mutation_p.T155N|TP53_ENST00000455263.2_Missense_Mutation_p.T155N|TP53_ENST00000445888.2_Missense_Mutation_p.T155N|TP53_ENST00000269305.4_Missense_Mutation_p.T155N	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	155	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		T -> A (in sporadic cancers; somatic mutation).|T -> I (in sporadic cancers; somatic mutation).|T -> M (in a sporadic cancer; somatic mutation).|T -> N (in LFS; germline mutation and in sporadic cancers; somatic mutation).|T -> P (in sporadic cancers; somatic mutation).|T -> 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.T155N(22)|p.T155I(14)|p.0?(8)|p.?(5)|p.P152fs*14(4)|p.G154fs*14(2)|p.T155fs*23(2)|p.P153fs*22(2)|p.P151_V173del23(1)|p.G154_R156delGTR(1)|p.T155fs*25(1)|p.R156_A161del(1)|p.D148_T155delDSTPPPGT(1)|p.D148fs*23(1)|p.S149fs*72(1)|p.T23N(1)|p.T62N(1)|p.T62I(1)|p.T23I(1)|p.T155_A161delTRVRAMA(1)|p.G154fs*22(1)|p.R156fs*25(1)|p.T155_R156delTR(1)|p.T155S(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)		GCGGACGCGGGTGCCGGGCGG	0.612		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)			49	44					5.57489e-27	6.68987e-27	0.870114	1	0	T	7578466	G	T	7578466	3	4	29	1	0	0	0	0	1	0	0	0	16442	1261	44	5	834	5	TP53	17	7578466	Missense_Mutation	SNP	G	TCGA-DB-5280-01A-01D-1468-08	1346	7578466	73616744	27	1270											
DSG4	147409	broad.mit.edu	37	18	28983444	28983444	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-5280-01A-01D-1468-08	TCGA-DB-5280-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef91c83b-6752-418b-9ffe-68c5a518f96a	f0f00150-b136-4274-a932-460ad5b990f7	g.chr18:28983444C>T	ENST00000359747.4	+	11	1512	c.1483C>T	c.(1483-1485)Cca>Tca	p.P495S	RP11-534N16.1_ENST00000581856.1_RNA|DSG4_ENST00000308128.4_Missense_Mutation_p.P495S|RP11-534N16.1_ENST00000578477.1_RNA	NM_001134453.1	NP_001127925.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	495	Cadherin 4.				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			TGATTATTGTCCAAACATTTT	0.383													27	34					0	0	0.693898	0	0	T	28983444	C	T	28983444	3	4	29	1	0	0	0	0	1	0	0	0	4805	855	30	2	1525	2	DSG4	18	28983444	Missense_Mutation	SNP	C	TCGA-DB-5280-01A-01D-1468-08		28983444	49093804	28	1271											
NUMBL	9253	broad.mit.edu	37	19	41183289	41183289	+	Missense_Mutation	SNP	G	G	C			TCGA-DB-5280-01A-01D-1468-08	TCGA-DB-5280-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef91c83b-6752-418b-9ffe-68c5a518f96a	f0f00150-b136-4274-a932-460ad5b990f7	g.chr19:41183289G>C	ENST00000252891.4	-	7	745	c.578C>G	c.(577-579)gCc>gGc	p.A193G	NUMBL_ENST00000540131.1_Missense_Mutation_p.A152G|NUMBL_ENST00000598779.1_Missense_Mutation_p.A152G	NM_004756.3	NP_004747.1	Q9Y6R0	NUMBL_HUMAN	numb homolog (Drosophila)-like	193	PID.				cytokine-mediated signaling pathway|lateral ventricle development|neuroblast division in subventricular zone|protein metabolic process	cytoplasm	protein binding			NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)	16			Lung(22;0.000393)|LUSC - Lung squamous cell carcinoma(20;0.00105)			CAGGCAGGCGGCAAAAGCACA	0.697													17	23					0	0	0.575678	0	0	C	41183289	G	C	41183289	3	2	29	1	0	0	0	0	1	0	0	0	10800	1203	42	5	1267	5	NUMBL	19	41183289	Missense_Mutation	SNP	G	TCGA-DB-5280-01A-01D-1468-08		41183289	17945694	29	1272											
ITPKC	80271	broad.mit.edu	37	19	41223412	41223412	+	Silent	SNP	A	A	C			TCGA-DB-5280-01A-01D-1468-08	TCGA-DB-5280-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef91c83b-6752-418b-9ffe-68c5a518f96a	f0f00150-b136-4274-a932-460ad5b990f7	g.chr19:41223412A>C	ENST00000263370.2	+	1	405	c.372A>C	c.(370-372)ctA>ctC	p.L124L		NM_025194.2	NP_079470.1	Q96DU7	IP3KC_HUMAN	inositol-trisphosphate 3-kinase C	124						cytoplasm|nucleus	ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	14			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			GGACGCATCTAGAATGGAGCT	0.607													42	80					0	0	0.840704	0	0	C	41223412	A	C	41223412	2	2	29	1	0	0	0	0	0	0	0	1	7963	407	15	5		5	ITPKC	19	41223412	Silent	SNP	A	TCGA-DB-5280-01A-01D-1468-08	40123	41223412	17905571	30	1273											
LILRA2	11027	broad.mit.edu	37	19	55086405	55086405	+	Missense_Mutation	SNP	C	C	T	rs74454618		TCGA-DB-5280-01A-01D-1468-08	TCGA-DB-5280-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef91c83b-6752-418b-9ffe-68c5a518f96a	f0f00150-b136-4274-a932-460ad5b990f7	g.chr19:55086405C>T	ENST00000251377.3	+	5	693	c.560C>T	c.(559-561)cCg>cTg	p.P187L	LILRA2_ENST00000391737.1_Missense_Mutation_p.P175L|LILRB1_ENST00000418536.2_Intron|LILRA2_ENST00000391738.3_Missense_Mutation_p.P187L|LILRB1_ENST00000448689.1_Intron|LILRB1_ENST00000396321.2_Intron|LILRA2_ENST00000251376.3_Missense_Mutation_p.P187L					leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2											breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50				GBM - Glioblastoma multiforme(193;0.0963)		CCCGTGAGCCCGAGTCGCAGG	0.587													99	109					0	0	0.870114	0	0	T	55086405	C	T	55086405	3	4	29	1	0	0	0	0	1	0	0	0	8825	652	23	1	574	1	LILRA2	19	55086405	Missense_Mutation	SNP	C	TCGA-DB-5280-01A-01D-1468-08	13862993	55086405	4042578	31	1274											
NLRP8	126205	broad.mit.edu	37	19	56466833	56466833	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-5280-01A-01D-1468-08	TCGA-DB-5280-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef91c83b-6752-418b-9ffe-68c5a518f96a	f0f00150-b136-4274-a932-460ad5b990f7	g.chr19:56466833G>A	ENST00000291971.3	+	3	1480	c.1409G>A	c.(1408-1410)gGt>gAt	p.G470D	NLRP8_ENST00000590542.1_Missense_Mutation_p.G470D	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	470	NACHT.					cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		TGGGTGTTAGGTAAAGAAGAT	0.502													7	182					0	0	0.248553	0	0	A	56466833	G	A	56466833	3	1	29	1	0	0	0	0	1	0	0	0	10530	1261	44	2	1419	2	NLRP8	19	56466833	Missense_Mutation	SNP	G	TCGA-DB-5280-01A-01D-1468-08	1380428	56466833	2662150	32	1275											
CST8	10047	broad.mit.edu	37	20	23472506	23472506	+	Missense_Mutation	SNP	G	G	C			TCGA-DB-5280-01A-01D-1468-08	TCGA-DB-5280-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef91c83b-6752-418b-9ffe-68c5a518f96a	f0f00150-b136-4274-a932-460ad5b990f7	g.chr20:23472506G>C	ENST00000246012.1	+	2	559	c.202G>C	c.(202-204)Gtg>Ctg	p.V68L		NM_005492.2	NP_005483.1	O60676	CST8_HUMAN	cystatin 8 (cystatin-related epididymal specific)	68						extracellular region	cysteine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(9)|skin(2)	16	Colorectal(13;0.0431)|Lung NSC(19;0.235)					TGTCTTCCTGGTGGTCAAGAC	0.468													6	114					0	0	0.217242	0	0	C	23472506	G	C	23472506	3	2	29	1	0	0	0	0	1	0	0	0	4003	1261	44	5	204	5	CST8	20	23472506	Missense_Mutation	SNP	G	TCGA-DB-5280-01A-01D-1468-08		23472506	39553014	33	1276											
SON	6651	broad.mit.edu	37	21	34927010	34927010	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DB-5280-01A-01D-1468-08	TCGA-DB-5280-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef91c83b-6752-418b-9ffe-68c5a518f96a	f0f00150-b136-4274-a932-460ad5b990f7	g.chr21:34927010C>T	ENST00000356577.4	+	3	5948	c.5473C>T	c.(5473-5475)Cga>Tga	p.R1825*	SON_ENST00000300278.4_Nonsense_Mutation_p.R1825*|SON_ENST00000290239.6_Nonsense_Mutation_p.R1825*|SON_ENST00000381679.4_Nonsense_Mutation_p.R1825*|SON_ENST00000381692.2_Intron	NM_138927.1	NP_620305	P18583	SON_HUMAN	SON DNA binding protein	1825					anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding			breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						ATTAAGATCTCGAAGTAAGCG	0.388													5	133					0	0	0.217242	0	0	T	34927010	C	T	34927010	4	4	29	1	0	0	0	0	0	1	0	0	14980	876	31	1	5483	1	SON	21	34927010	Nonsense_Mutation	SNP	C	TCGA-DB-5280-01A-01D-1468-08		34927010	13202885	34	1277											
ATRX	546	broad.mit.edu	37	X	76938749	76938765	+	Frame_Shift_Del	DEL	GTCGCCTCAAGGGTGTA	GTCGCCTCAAGGGTGTA	-			TCGA-DB-5280-01A-01D-1468-08	TCGA-DB-5280-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef91c83b-6752-418b-9ffe-68c5a518f96a	f0f00150-b136-4274-a932-460ad5b990f7	g.chrX:76938749_76938765delGTCGCCTCAAGGGTGTA	ENST00000373344.5	-	9	2197_2213	c.1983_1999delTACACCCTTGAGGCGAC	c.(1981-2001)actacacccttgaggcgaccgfs	p.TPLRRP662fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.TPLRRP624fs	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	662					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)	GTTTCTGTCGGTCGCCTCAAGGGTGTAGTCTTTACAC	0.373			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						90	92	---	---	---	---						-	76938765	GTCGCCTCAAGGGTGTA	-	76938749	7	5	29	1	0	1	0	1	0	0	0	0	1206	1261	44	0	5587	0	ATRX	23	76938749	Frame_Shift_Del	DEL	GTCGCCTCAAGGGTGTA	TCGA-DB-5280-01A-01D-1468-08		76938749	78331811	35	1278											
DACH2	117154	broad.mit.edu	37	X	85994757	85994758	+	Frame_Shift_Ins	INS	-	-	C			TCGA-DB-5280-01A-01D-1468-08	TCGA-DB-5280-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef91c83b-6752-418b-9ffe-68c5a518f96a	f0f00150-b136-4274-a932-460ad5b990f7	g.chrX:85994757_85994758insC	ENST00000373131.1	+	6	1236_1237	c.1073_1074insC	c.(1072-1077)atcccafs	p.IP358fs	DACH2_ENST00000373125.4_Frame_Shift_Ins_p.IP371fs|DACH2_ENST00000508860.1_Frame_Shift_Ins_p.IP204fs|DACH2_ENST00000510272.1_Frame_Shift_Ins_p.IP152fs	NM_001139514.1	NP_001132986.1	Q96NX9	DACH2_HUMAN	dachshund homolog 2 (Drosophila)	371					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|nucleotide binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						CAGGAGCGGATCCCAGAGAGTC	0.485													2	4	---	---	---	---						C	85994758	-	C	85994757	7	5	29	1	0	1	1	0	0	0	0	0	4245	1435	50	0	1138	0	DACH2	23	85994757	Frame_Shift_Ins	INS	-	TCGA-DB-5280-01A-01D-1468-08	9056008	85994757	69275803	36	1279											
TFDP3	51270	broad.mit.edu	37	X	132351780	132351780	+	Missense_Mutation	SNP	C	C	A			TCGA-DB-5280-01A-01D-1468-08	TCGA-DB-5280-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef91c83b-6752-418b-9ffe-68c5a518f96a	f0f00150-b136-4274-a932-460ad5b990f7	g.chrX:132351780C>A	ENST00000310125.4	-	1	596	c.508G>T	c.(508-510)Gtg>Ttg	p.V170L		NM_016521.2	NP_057605.3	Q5H9I0	TFDP3_HUMAN	transcription factor Dp family, member 3	170						transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(1)|lung(8)|ovary(1)|prostate(2)	19	Acute lymphoblastic leukemia(192;0.000127)					GCCATCAGCACGTTTAAGGCA	0.502													3	53					0.115264	0.124485	0.115264	1	0	A	132351780	C	A	132351780	3	1	29	1	0	0	0	0	1	0	0	0	15859	536	19	5	713	5	TFDP3	23	132351780	Missense_Mutation	SNP	C	TCGA-DB-5280-01A-01D-1468-08	46357023	132351780	22918780	37	1280											
CHD5	26038	broad.mit.edu	37	1	6186737	6186737	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr1:6186737G>A	ENST00000262450.3	-	26	4072	c.3973C>T	c.(3973-3975)Cgg>Tgg	p.R1325W	CHD5_ENST00000378021.1_Missense_Mutation_p.R182W	NM_015557.2	NP_056372.1	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	1325					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		TAGTGGTGCCGCAGCAGCTTC	0.627													15	57					0	0	0.520397	0	0	A	6186737	G	A	6186737	3	1	30	1	0	0	0	0	1	0	0	0	3350	1086	38	1	1955	1	CHD5	1	6186737	Missense_Mutation	SNP	G	TCGA-DB-5281-01A-01D-1468-08		6186737	243063884	1	1281											
TESK2	10420	broad.mit.edu	37	1	45887455	45887455	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr1:45887455C>T	ENST00000372086.3	-	3	686	c.286G>A	c.(286-288)Gca>Aca	p.A96T	TESK2_ENST00000372084.1_Missense_Mutation_p.A96T|TESK2_ENST00000341771.6_Missense_Mutation_p.A96T|TESK2_ENST00000538496.1_Missense_Mutation_p.A13T|TESK2_ENST00000451835.2_Missense_Mutation_p.A96T|TESK2_ENST00000486676.1_5'UTR	NM_007170.2	NP_009101.2	Q96S53	TESK2_HUMAN	testis-specific kinase 2	96	Protein kinase.				actin cytoskeleton organization|focal adhesion assembly|spermatogenesis	nucleus	ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(9)|ovary(2)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	32	Acute lymphoblastic leukemia(166;0.155)					AGCATGTTTGCCCGGTTACTG	0.423													71	95					0	0	0.870114	0	0	T	45887455	C	T	45887455	3	4	30	1	0	0	0	0	1	0	0	0	15827	739	26	2	1465	2	TESK2	1	45887455	Missense_Mutation	SNP	C	TCGA-DB-5281-01A-01D-1468-08	39700718	45887455	203363166	2	1282											
SEC22B	9554	broad.mit.edu	37	1	145109975	145109976	+	RNA	INS	-	-	C	rs67257307		TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr1:145109975_145109976insC	ENST00000453618.1	+	0	673							O75396	SC22B_HUMAN	SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)						ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome	protein binding										CAGGAACTTTGCTAAAGATCTA	0.386													2	4	---	---	---	---						C	145109976	-	C	145109975	6	5	30	0	1	1	1	0	0	0	0	0	14043	1334	46	0		0	SEC22B	1	145109975	RNA	INS	-	TCGA-DB-5281-01A-01D-1468-08	99222520	145109975	104140646	3	1283											
EFEMP1	2202	broad.mit.edu	37	2	56145171	56145171	+	Missense_Mutation	SNP	T	T	C	rs55849640	byFrequency	TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr2:56145171T>C	ENST00000394555.2	-	4	581	c.146A>G	c.(145-147)gAc>gGc	p.D49G	EFEMP1_ENST00000355426.3_Missense_Mutation_p.D49G|EFEMP1_ENST00000394554.1_Missense_Mutation_p.D49G|EFEMP1_ENST00000424836.2_5'UTR	NM_001039348.2|NM_001039349.2	NP_001034437.1|NP_001034438.1	Q12805	FBLN3_HUMAN	EGF containing fibulin-like extracellular matrix protein 1	49	EGF-like 1; atypical.				negative regulation of chondrocyte differentiation|peptidyl-tyrosine phosphorylation|regulation of transcription, DNA-dependent|visual perception	extracellular space|proteinaceous extracellular matrix	calcium ion binding|epidermal growth factor receptor activity|epidermal growth factor receptor binding|growth factor activity			NS(1)|breast(2)|endometrium(4)|large_intestine(6)|lung(5)|ovary(5)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			TGGGACAATGTCACATTCATC	0.373													32	76					0	0	0.769981	0	0	C	56145171	T	C	56145171	3	2	30	1	0	0	0	0	1	0	0	0	4967	1667	58	3	1367	3	EFEMP1	2	56145171	Missense_Mutation	SNP	T	TCGA-DB-5281-01A-01D-1468-08		56145171	187054202	4	1284											
DCTN1	1639	broad.mit.edu	37	2	74595916	74595916	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr2:74595916C>T	ENST00000361874.3	-	16	2110	c.1793G>A	c.(1792-1794)cGg>cAg	p.R598Q	DCTN1_ENST00000394003.3_Missense_Mutation_p.R591Q|DCTN1_ENST00000409868.1_Missense_Mutation_p.R581Q|DCTN1_ENST00000407639.2_Missense_Mutation_p.R464Q|DCTN1_ENST00000409567.3_Missense_Mutation_p.R578Q|DCTN1_ENST00000409240.1_Missense_Mutation_p.R561Q|DCTN1_ENST00000409438.1_Missense_Mutation_p.R464Q	NM_004082.4	NP_004073.2	Q14203	DCTN1_HUMAN	dynactin 1	598					cell death|G2/M transition of mitotic cell cycle|mitosis|nervous system development	centrosome|cytosol|kinetochore|microtubule|spindle pole	motor activity|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						CCCACCTGGCCGAAGGAAGCT	0.532													17	103					0	0	0.575678	0	0	T	74595916	C	T	74595916	3	4	30	1	0	0	0	0	1	0	0	0	4329	652	23	1	2111	1	DCTN1	2	74595916	Missense_Mutation	SNP	C	TCGA-DB-5281-01A-01D-1468-08	18450745	74595916	168603457	5	1285											
VWA3B	200403	broad.mit.edu	37	2	98928738	98928738	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr2:98928738C>T	ENST00000477737.1	+	28	4015	c.3811C>T	c.(3811-3813)Cga>Tga	p.R1271*	VWA3B_ENST00000490947.2_3'UTR	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	1271										NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						ACCTCCACCTCGAGCAGCCCT	0.607													21	76					0	0	0.608945	0	0	T	98928738	C	T	98928738	4	4	30	1	0	0	0	0	0	1	0	0	17301	876	31	1	3917	1	VWA3B	2	98928738	Nonsense_Mutation	SNP	C	TCGA-DB-5281-01A-01D-1468-08	24332822	98928738	144270635	6	1286											
R3HDM1	23518	broad.mit.edu	37	2	136389572	136389575	+	Splice_Site	DEL	GTAA	GTAA	-			TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr2:136389572_136389575delGTAA	ENST00000264160.4	+	9	1068		c.e9+1		R3HDM1_ENST00000410054.1_Splice_Site|R3HDM1_ENST00000409606.1_Splice_Site|R3HDM1_ENST00000409478.1_Splice_Site|R3HDM1_ENST00000329971.3_Splice_Site	NM_001282798.1|NM_015361.2	NP_001269727.1|NP_056176.2	Q15032	R3HD1_HUMAN	R3H domain containing 1								nucleic acid binding			breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	38				BRCA - Breast invasive adenocarcinoma(221;0.127)		ATACAAGAATGTAAGTGTCAAGAG	0.324													29	106	---	---	---	---						-	136389575	GTAA	-	136389572	8	5	30	1	0	1	0	1	0	0	1	0	12939	1391	48	0	725	0	R3HDM1	2	136389572	Splice_Site	DEL	GTAA	TCGA-DB-5281-01A-01D-1468-08	37460834	136389572	106809801	7	1287											
SCN3A	6328	broad.mit.edu	37	2	165970378	165970378	+	Missense_Mutation	SNP	T	T	C			TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr2:165970378T>C	ENST00000360093.3	-	20	4108	c.3617A>G	c.(3616-3618)aAc>aGc	p.N1206S	SCN3A_ENST00000409101.3_Missense_Mutation_p.N1157S|SCN3A_ENST00000283254.7_Missense_Mutation_p.N1206S	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	1206						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	CTCAAACCAGTTGTGCTCAAC	0.378													40	135					0	0	0.864702	0	0	C	165970378	T	C	165970378	3	2	30	1	0	0	0	0	1	0	0	0	13972	1725	60	3	2421	3	SCN3A	2	165970378	Missense_Mutation	SNP	T	TCGA-DB-5281-01A-01D-1468-08	29580806	165970378	77228995	8	1288											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	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	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								27	36					0	0	0.717897	0	0	T	209113112	C	T	209113112	3	4	30	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-DB-5281-01A-01D-1468-08	43142734	209113112	34086261	9	1289											
COL4A3	1285	broad.mit.edu	37	2	228153927	228153927	+	Silent	SNP	G	G	A			TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr2:228153927G>A	ENST00000396578.3	+	35	3105	c.2943G>A	c.(2941-2943)aaG>aaA	p.K981K	AC097662.2_ENST00000439598.2_RNA|AC097662.2_ENST00000396588.2_RNA|AC097662.2_ENST00000433324.1_RNA	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	981	Triple-helical region.				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		CAGGTTTAAAGGGCCTCAAAG	0.423													3	52					0	0	0.150653	0	0	A	228153927	G	A	228153927	2	1	30	1	0	0	0	0	0	0	0	1	3714	991	35	2		2	COL4A3	2	228153927	Silent	SNP	G	TCGA-DB-5281-01A-01D-1468-08	19040815	228153927	15045446	10	1290											
C3orf18	51161	broad.mit.edu	37	3	50598380	50598380	+	Missense_Mutation	SNP	C	C	A			TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr3:50598380C>A	ENST00000357203.3	-	5	915	c.376G>T	c.(376-378)Gct>Tct	p.A126S	C3orf18_ENST00000449241.1_Missense_Mutation_p.A126S|C3orf18_ENST00000486175.1_5'UTR|C3orf18_ENST00000426034.1_Missense_Mutation_p.A126S|C3orf18_ENST00000422619.1_Missense_Mutation_p.A74S|C3orf18_ENST00000441239.1_Missense_Mutation_p.A106S	NM_016210.4	NP_057294.2	Q9UK00	CC018_HUMAN	chromosome 3 open reading frame 18	126						integral to membrane				lung(1)|pancreas(1)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.0175)|Kidney(197;0.0207)		GAAGTAGCAGCCTGTACAGAG	0.637													24	56					3.28513e-13	3.51014e-13	0.667858	1	0	A	50598380	C	A	50598380	3	1	30	1	0	0	0	0	1	0	0	0	2225	739	26	5	120	5	C3orf18	3	50598380	Missense_Mutation	SNP	C	TCGA-DB-5281-01A-01D-1468-08		50598380	147424050	11	1291											
ANKRD17	26057	broad.mit.edu	37	4	73957066	73957066	+	Silent	SNP	T	T	A			TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr4:73957066T>A	ENST00000358602.4	-	29	6395	c.6279A>T	c.(6277-6279)ccA>ccT	p.P2093P	ANKRD17_ENST00000330838.6_Silent_p.P1842P|ANKRD17_ENST00000509867.2_Silent_p.P1980P	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	2093	Ser-rich.				interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TGCTGCTGTTTGGAGGTCTAG	0.473													48	141					0	0	0.870114	0	0	A	73957066	T	A	73957066	2	1	30	1	0	0	0	0	0	0	0	1	642	1799	63	5		5	ANKRD17	4	73957066	Silent	SNP	T	TCGA-DB-5281-01A-01D-1468-08		73957066	117197210	12	1292											
SPOCK3	50859	broad.mit.edu	37	4	167810286	167810287	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr4:167810286_167810287delTT	ENST00000357154.3	-	7	729_730	c.592_593delAA	c.(592-594)aagfs	p.K198fs	SPOCK3_ENST00000511269.1_Frame_Shift_Del_p.K195fs|SPOCK3_ENST00000512648.1_Frame_Shift_Del_p.K195fs|SPOCK3_ENST00000512681.1_Frame_Shift_Del_p.K100fs|SPOCK3_ENST00000541354.1_Frame_Shift_Del_p.K78fs|SPOCK3_ENST00000510741.1_Frame_Shift_Del_p.K195fs|SPOCK3_ENST00000511531.1_Frame_Shift_Del_p.K198fs|SPOCK3_ENST00000504953.1_Frame_Shift_Del_p.K195fs|SPOCK3_ENST00000502330.1_Frame_Shift_Del_p.K198fs|SPOCK3_ENST00000421836.2_Frame_Shift_Del_p.K147fs|SPOCK3_ENST00000507137.1_5'UTR|SPOCK3_ENST00000357545.4_Frame_Shift_Del_p.K195fs|SPOCK3_ENST00000535728.1_Frame_Shift_Del_p.K106fs|SPOCK3_ENST00000534949.1_Frame_Shift_Del_p.K102fs|SPOCK3_ENST00000506886.1_Frame_Shift_Del_p.K198fs|SPOCK3_ENST00000541637.1_Frame_Shift_Del_p.K100fs	NM_016950.2	NP_058646.2	Q9BQ16	TICN3_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3	198					signal transduction	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase inhibitor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	38	all_hematologic(180;0.221)	Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198)		GBM - Glioblastoma multiforme(119;0.02)		CTTACCTCTCTTAACATTTCTG	0.337													33	80	---	---	---	---						-	167810287	TT	-	167810286	7	5	30	1	0	1	0	1	0	0	0	0	15137	1609	56	0	741	0	SPOCK3	4	167810286	Frame_Shift_Del	DEL	TT	TCGA-DB-5281-01A-01D-1468-08	93853220	167810286	23343990	13	1293											
PRDM9	56979	broad.mit.edu	37	5	23527687	23527687	+	Silent	SNP	G	G	A			TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr5:23527687G>A	ENST00000296682.3	+	11	2672	c.2490G>A	c.(2488-2490)aaG>aaA	p.K830K		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	830					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						CAGGGGAGAAGCCCTATGTCT	0.587										HNSCC(3;0.000094)			28	95					0	0	0.760397	0	0	A	23527687	G	A	23527687	2	1	30	1	0	0	0	0	0	0	0	1	12515	962	34	2		2	PRDM9	5	23527687	Silent	SNP	G	TCGA-DB-5281-01A-01D-1468-08		23527687	157387573	14	1294											
FAM174A	345757	broad.mit.edu	37	5	99897847	99897847	+	Missense_Mutation	SNP	A	A	T			TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr5:99897847A>T	ENST00000312637.4	+	2	750	c.524A>T	c.(523-525)gAt>gTt	p.D175V	FAM174A_ENST00000505792.1_3'UTR	NM_198507.1	NP_940909.1	Q8TBP5	F174A_HUMAN	family with sequence similarity 174, member A	175						integral to membrane				breast(2)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						GAACAGGATGATGAGGATGAT	0.383													29	61					0	0	0.740014	0	0	T	99897847	A	T	99897847	3	4	30	1	0	0	0	0	1	0	0	0	5525	333	12	4	530	4	FAM174A	5	99897847	Missense_Mutation	SNP	A	TCGA-DB-5281-01A-01D-1468-08	76370160	99897847	81017413	15	1295											
GFPT2	9945	broad.mit.edu	37	5	179744060	179744061	+	Splice_Site	DEL	TG	TG	-			TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr5:179744060_179744061delTG	ENST00000253778.8	-	11	1128		c.e11-2		GFPT2_ENST00000520165.1_Splice_Site	NM_005110.2	NP_005101.1	O94808	GFPT2_HUMAN	glutamine-fructose-6-phosphate transaminase 2						dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34	all_cancers(89;4.97e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	Medulloblastoma(196;0.0392)|all_neural(177;0.0529)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		L-Glutamine(DB00130)	TGAAGTTACCTGGTCAAATAAA	0.391													27	103	---	---	---	---						-	179744061	TG	-	179744060	8	5	30	1	0	1	0	1	0	0	1	0	6388	1594	55	0	1127	0	GFPT2	5	179744060	Splice_Site	DEL	TG	TCGA-DB-5281-01A-01D-1468-08	79846213	179744060	1171200	16	1296											
ZFP57	346171	broad.mit.edu	37	6	29641322	29641322	+	Missense_Mutation	SNP	T	T	A			TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr6:29641322T>A	ENST00000376883.1	-	6	917	c.506A>T	c.(505-507)tAc>tTc	p.Y169F	ZFP57_ENST00000488757.1_Missense_Mutation_p.Y189F|ZFP57_ENST00000376881.3_Missense_Mutation_p.Y169F			Q9NU63	ZFP57_HUMAN	ZFP57 zinc finger protein	105					DNA methylation involved in embryo development|regulation of gene expression by genetic imprinting|transcription, DNA-dependent		DNA binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(16)|ovary(4)|skin(4)|urinary_tract(5)	44						GCTATAGAGGTAGGAGCGCCT	0.542													24	95					0	0	0.654019	0	0	A	29641322	T	A	29641322	3	1	30	1	0	0	0	0	1	0	0	0	17709	1638	57	5	1048	5	ZFP57	6	29641322	Missense_Mutation	SNP	T	TCGA-DB-5281-01A-01D-1468-08		29641322	141473745	17	1297											
RSPH9	221421	broad.mit.edu	37	6	43612865	43612865	+	Silent	SNP	G	G	A			TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr6:43612865G>A	ENST00000372165.4	+	1	83	c.30G>A	c.(28-30)ctG>ctA	p.L10L	RSPH9_ENST00000372163.4_Silent_p.L10L	NM_001193341.1	NP_001180270.1	Q9H1X1	RSPH9_HUMAN	radial spoke head 9 homolog (Chlamydomonas)	10					cilium axoneme assembly|cilium movement	cytoplasm|cytoskeleton				NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						TGCTGTCTCTGGAGCTGGCGT	0.657									Kartagener syndrome				7	53					0	0	0.307466	0	0	A	43612865	G	A	43612865	2	1	30	1	0	0	0	0	0	0	0	1	13760	1335	47	2		2	RSPH9	6	43612865	Silent	SNP	G	TCGA-DB-5281-01A-01D-1468-08	13971543	43612865	127502202	18	1298											
GJA1	2697	broad.mit.edu	37	6	121769068	121769068	+	Missense_Mutation	SNP	G	G	T			TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr6:121769068G>T	ENST00000282561.3	+	2	1232	c.1075G>T	c.(1075-1077)Gtg>Ttg	p.V359L		NM_000165.3	NP_000156.1	P17302	CXA1_HUMAN	gap junction protein, alpha 1, 43kDa	359					cell-cell signaling|cellular membrane organization|gap junction assembly|heart development|muscle contraction|positive regulation of I-kappaB kinase/NF-kappaB cascade	connexon complex|Golgi-associated vesicle membrane|integral to plasma membrane|membrane raft	ion transmembrane transporter activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(2)|large_intestine(10)|liver(2)|lung(13)|ovary(2)	33				GBM - Glioblastoma multiforme(226;0.00252)	Carvedilol(DB01136)	ACTAGCCATTGTGGACCAGCG	0.493													29	119					4.65686e-17	5.04494e-17	0.788014	1	0	T	121769068	G	T	121769068	3	4	30	1	0	0	0	0	1	0	0	0	6442	1377	48	5	1077	5	GJA1	6	121769068	Missense_Mutation	SNP	G	TCGA-DB-5281-01A-01D-1468-08	78156203	121769068	49345999	19	1299											
MAP7	9053	broad.mit.edu	37	6	136683671	136683671	+	Missense_Mutation	SNP	C	C	A			TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr6:136683671C>A	ENST00000354570.3	-	11	1853	c.1443G>T	c.(1441-1443)agG>agT	p.R481S	MAP7_ENST00000454590.1_Missense_Mutation_p.R503S|MAP7_ENST00000544465.1_Missense_Mutation_p.R466S|MAP7_ENST00000432797.2_Missense_Mutation_p.R335S|MAP7_ENST00000438100.2_Missense_Mutation_p.R466S	NM_001198616.1|NM_001198617.1|NM_001198619.1|NM_003980.4	NP_001185545.1|NP_001185546.1|NP_001185548.1|NP_003971.1	Q14244	MAP7_HUMAN	microtubule-associated protein 7	481					establishment or maintenance of cell polarity|microtubule cytoskeleton organization|protein localization in plasma membrane|response to osmotic stress	basolateral plasma membrane|microtubule|microtubule associated complex|nucleus|perinuclear region of cytoplasm	receptor binding|structural molecule activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(11)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643)		CAGCTAGAAGCCTTGTGGCCT	0.567													17	57					3.51602e-12	3.70607e-12	0.575678	1	0	A	136683671	C	A	136683671	3	1	30	1	0	0	0	0	1	0	0	0	9316	738	26	5	838	5	MAP7	6	136683671	Missense_Mutation	SNP	C	TCGA-DB-5281-01A-01D-1468-08	14914603	136683671	34431396	20	1300											
REPS1	85021	broad.mit.edu	37	6	139247539	139247539	+	Splice_Site	SNP	G	G	C			TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr6:139247539G>C	ENST00000450536.2	-	10	1911	c.1337C>G	c.(1336-1338)cCt>cGt	p.P446R	REPS1_ENST00000258062.5_Splice_Site_p.P446R|REPS1_ENST00000409812.2_Intron|REPS1_ENST00000367663.4_Intron|REPS1_ENST00000415951.2_Intron			Q96D71	REPS1_HUMAN	RALBP1 associated Eps domain containing 1	446						coated pit|plasma membrane	calcium ion binding|SH3 domain binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	19				GBM - Glioblastoma multiforme(68;0.000434)|OV - Ovarian serous cystadenocarcinoma(155;0.000548)		TTGACTTACAGGATCAGCTGG	0.393													12	12					0	0	0.38729	0	0	C	139247539	G	C	139247539	5	2	30	1	0	0	0	0	0	0	1	0	13280	1014	35	4	1097	4	REPS1	6	139247539	Splice_Site	SNP	G	TCGA-DB-5281-01A-01D-1468-08	2563868	139247539	31867528	21	1301											
MLXIPL	51085	broad.mit.edu	37	7	73011230	73011230	+	Missense_Mutation	SNP	C	C	G			TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr7:73011230C>G	ENST00000313375.3	-	10	1683	c.1636G>C	c.(1636-1638)Gta>Cta	p.V546L	MLXIPL_ENST00000414749.2_Missense_Mutation_p.V546L|MLXIPL_ENST00000395189.1_Missense_Mutation_p.V453L|MLXIPL_ENST00000354613.1_Missense_Mutation_p.V546L|MLXIPL_ENST00000434326.1_Missense_Mutation_p.V453L|MLXIPL_ENST00000429400.2_Missense_Mutation_p.V546L	NM_032951.2|NM_032953.2	NP_116569.1|NP_116571.1	Q9NP71	WBS14_HUMAN	MLX interacting protein-like	546					anatomical structure morphogenesis|energy reserve metabolic process|glucose mediated signaling pathway|intracellular protein kinase cascade|negative regulation of cell cycle arrest|negative regulation of oxidative phosphorylation|negative regulation of peptidyl-serine phosphorylation|positive regulation of cell proliferation|positive regulation of fatty acid biosynthetic process|positive regulation of glycolysis|positive regulation of transcription from RNA polymerase II promoter|triglyceride homeostasis	cytosol|transcription factor complex	carbohydrate response element binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding			cervix(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	13		Lung NSC(55;0.0659)|all_lung(88;0.152)				GTGCTGGATACAAGTGGTGGC	0.672													2	23					0	0	0.115264	0	0	G	73011230	C	G	73011230	3	3	30	1	0	0	0	0	1	0	0	0	9685	478	17	5	954	5	MLXIPL	7	73011230	Missense_Mutation	SNP	C	TCGA-DB-5281-01A-01D-1468-08		73011230	86127433	22	1302											
C8orf74	203076	broad.mit.edu	37	8	10557893	10557893	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr8:10557893C>T	ENST00000304519.5	+	4	826	c.797C>T	c.(796-798)cCg>cTg	p.P266L	RP1L1_ENST00000329335.3_Intron	NM_001040032.1	NP_001035121	Q6P047	CH074_HUMAN	chromosome 8 open reading frame 74	266										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	13				COAD - Colon adenocarcinoma(149;0.0811)		ACCCCTATCCCGCCCCCCATC	0.587													19	19					0	0	0.557998	0	0	T	10557893	C	T	10557893	3	4	30	1	0	0	0	0	1	0	0	0	2454	652	23	1	811	1	C8orf74	8	10557893	Missense_Mutation	SNP	C	TCGA-DB-5281-01A-01D-1468-08		10557893	135806129	23	1303											
TGFBR1	7046	broad.mit.edu	37	9	101907133	101907133	+	Missense_Mutation	SNP	A	A	G			TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr9:101907133A>G	ENST00000374994.4	+	6	1210	c.1093A>G	c.(1093-1095)Att>Gtt	p.I365V	TGFBR1_ENST00000550253.1_Missense_Mutation_p.I296V|TGFBR1_ENST00000374990.2_Missense_Mutation_p.I288V|TGFBR1_ENST00000552516.1_Missense_Mutation_p.I369V	NM_004612.2	NP_004603.1	P36897	TGFR1_HUMAN	transforming growth factor, beta receptor 1	365	Protein kinase.				activation of MAPKK activity|anterior/posterior pattern formation|artery morphogenesis|collagen fibril organization|embryonic cranial skeleton morphogenesis|germ cell migration|heart development|kidney development|neuron fate commitment|palate development|parathyroid gland development|pathway-restricted SMAD protein phosphorylation|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|pharyngeal system development|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of cellular component movement|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of SMAD protein import into nucleus|positive regulation of survival gene product expression|positive regulation of transcription, DNA-dependent|response to cholesterol|thymus development|transforming growth factor beta receptor signaling pathway		ATP binding|I-SMAD binding|metal ion binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type I|type II transforming growth factor beta receptor binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	27		Acute lymphoblastic leukemia(62;0.0559)				CACAGATACCATTGATATTGC	0.348													5	94					0	0	0.184627	0	0	G	101907133	A	G	101907133	3	3	30	1	0	0	0	0	1	0	0	0	15881	217	8	3	1115	3	TGFBR1	9	101907133	Missense_Mutation	SNP	A	TCGA-DB-5281-01A-01D-1468-08		101907133	39306298	24	1304											
C9orf96	169436	broad.mit.edu	37	9	136256485	136256485	+	Missense_Mutation	SNP	A	A	T			TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr9:136256485A>T	ENST00000371957.3	+	7	603	c.496A>T	c.(496-498)Atc>Ttc	p.I166F	C9orf96_ENST00000371955.1_5'UTR	NM_153710.3	NP_714921.4	Q8NE28	SGK71_HUMAN	chromosome 9 open reading frame 96	166	Protein kinase.						ATP binding|protein kinase activity			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|stomach(2)	25				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		CATCATCCTCATCAGCAGTGA	0.552													78	316					0	0	0.870114	0	0	T	136256485	A	T	136256485	3	4	30	1	0	0	0	0	1	0	0	0	2526	217	8	4	522	4	C9orf96	9	136256485	Missense_Mutation	SNP	A	TCGA-DB-5281-01A-01D-1468-08	34349352	136256485	4956946	25	1305											
ADAMTS14	140766	broad.mit.edu	37	10	72493665	72493665	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr10:72493665delG	ENST00000373208.1	+	8	1242	c.1242delG	c.(1240-1242)cagfs	p.Q414fs	ADAMTS14_ENST00000373207.1_Frame_Shift_Del_p.Q411fs	NM_139155.2	NP_631894.2	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 14	411	Peptidase M12B.				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						ATGACGGTCAGGGGAATGGCT	0.652													19	93	---	---	---	---						-	72493665	G	-	72493665	7	5	30	1	0	1	0	1	0	0	0	0	258	991	35	0	1272	0	ADAMTS14	10	72493665	Frame_Shift_Del	DEL	G	TCGA-DB-5281-01A-01D-1468-08		72493665	63041082	26	1306											
CD44	960	broad.mit.edu	37	11	35231542	35231542	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr11:35231542C>T	ENST00000428726.2	+	13	1670	c.1547C>T	c.(1546-1548)tCa>tTa	p.S516L	CD44_ENST00000278386.6_Intron|CD44_ENST00000415148.2_Missense_Mutation_p.S473L|CD44_ENST00000437706.2_Missense_Mutation_p.S516L|CD44_ENST00000433892.2_Missense_Mutation_p.S267L|CD44_ENST00000434472.2_Intron|CD44_ENST00000526669.2_Intron|CD44_ENST00000433354.2_Intron|CD44_ENST00000263398.6_Intron|CD44_ENST00000449691.2_Missense_Mutation_p.S473L|CD44_ENST00000352818.4_Intron|CD44_ENST00000360158.4_Intron	NM_000610.3	NP_000601.3	P16070	CD44_HUMAN	CD44 molecule (Indian blood group)	516	Stem.				cell-cell adhesion|cell-matrix adhesion|interferon-gamma-mediated signaling pathway|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation	cell surface|Golgi apparatus|integral to plasma membrane	collagen binding|hyaluronic acid binding|receptor activity			cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|skin(1)	23	all_cancers(35;0.212)|all_lung(20;0.0874)|all_epithelial(35;0.112)	all_hematologic(20;0.107)	STAD - Stomach adenocarcinoma(6;0.00731)		Hyaluronidase(DB00070)	TTCTCTACATCACATGAAGGC	0.388													34	135					0	0	0.769981	0	0	T	35231542	C	T	35231542	3	4	30	1	0	0	0	0	1	0	0	0	3039	838	29	2	1597	2	CD44	11	35231542	Missense_Mutation	SNP	C	TCGA-DB-5281-01A-01D-1468-08		35231542	99774974	27	1307											
TMEM132A	54972	broad.mit.edu	37	11	60703701	60703701	+	Silent	SNP	A	A	T			TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr11:60703701A>T	ENST00000005286.4	+	11	2550	c.2397A>T	c.(2395-2397)gcA>gcT	p.A799A	TMEM132A_ENST00000453848.2_Silent_p.A798A	NM_017870.3|NM_178031.2	NP_060340.2|NP_821174.1	Q24JP5	T132A_HUMAN	transmembrane protein 132A	798	Binds to HSPA5/GRP78 (By similarity).|Confers cellular localization similar to full-length form (By similarity).					endoplasmic reticulum membrane|Golgi membrane|integral to membrane				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						GGCAGGTGGCAGGCAGTGTCG	0.662													11	60					0	0	0.479597	0	0	T	60703701	A	T	60703701	2	4	30	1	0	0	0	0	0	0	0	1	16105	175	7	5		5	TMEM132A	11	60703701	Silent	SNP	A	TCGA-DB-5281-01A-01D-1468-08	25472159	60703701	74302815	28	1308											
MTL5	9633	broad.mit.edu	37	11	68480850	68480850	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr11:68480850G>A	ENST00000255087.5	-	8	1229	c.1046C>T	c.(1045-1047)gCt>gTt	p.A349V		NM_004923.3	NP_004914.2	Q9Y4I5	MTL5_HUMAN	metallothionein-like 5, testis-specific (tesmin)	349					cell differentiation|cellular metal ion homeostasis|multicellular organismal development|response to metal ion|spermatogenesis	cytoplasm|nucleus|soluble fraction	metal ion binding			breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	15	Esophageal squamous(3;4.37e-12)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.185)			TGGCTGGAAAGCTTCTGGATT	0.468													55	261					0	0	0.870114	0	0	A	68480850	G	A	68480850	3	1	30	1	0	0	0	0	1	0	0	0	9984	971	34	2	492	2	MTL5	11	68480850	Missense_Mutation	SNP	G	TCGA-DB-5281-01A-01D-1468-08	7777149	68480850	66525666	29	1309											
LRRC32	2615	broad.mit.edu	37	11	76371899	76371899	+	Silent	SNP	G	G	C			TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr11:76371899G>C	ENST00000407242.2	-	3	980	c.738C>G	c.(736-738)acC>acG	p.T246T	LRRC32_ENST00000260061.5_Silent_p.T246T|LRRC32_ENST00000464145.1_Intron|LRRC32_ENST00000404995.1_Silent_p.T246T|AP001189.4_ENST00000447519.1_RNA	NM_005512.2	NP_005503.1	Q14392	LRC32_HUMAN	leucine rich repeat containing 32	246						integral to plasma membrane				endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1)	31						GGTCAAGCCAGGTGAGCTGGA	0.617													19	90					0	0	0.575678	0	0	C	76371899	G	C	76371899	2	2	30	1	0	0	0	0	0	0	0	1	9032	987	35	4		4	LRRC32	11	76371899	Silent	SNP	G	TCGA-DB-5281-01A-01D-1468-08	7891049	76371899	58634617	30	1310											
MAML2	84441	broad.mit.edu	37	11	95826019	95826019	+	Silent	SNP	G	G	A			TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr11:95826019G>A	ENST00000524717.1	-	2	2460	c.1176C>T	c.(1174-1176)tcC>tcT	p.S392S		NM_032427.1	NP_115803.1	Q8IZL2	MAML2_HUMAN	mastermind-like 2 (Drosophila)	392					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity		CRTC3/MAML2(26)|CRTC1/MAML2(516)	breast(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	43		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)				AGTTGGCCATGGAGAATGCGG	0.597			T	"MECT1, CRTC3"	salivary gland mucoepidermoid								22	11					0	0	0.592651	0	0	A	95826019	G	A	95826019	2	1	30	1	0	0	0	0	0	0	0	1	9256	1335	47	2		2	MAML2	11	95826019	Silent	SNP	G	TCGA-DB-5281-01A-01D-1468-08	19454120	95826019	39180497	31	1311											
DPPA3	359787	broad.mit.edu	37	12	7864237	7864237	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr12:7864237G>A	ENST00000345088.2	+	1	188	c.71G>A	c.(70-72)cGg>cAg	p.R24Q		NM_199286.2	NP_954980.1	Q6W0C5	DPPA3_HUMAN	developmental pluripotency associated 3	24						cytoplasm|nucleus				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(2)	8				Kidney(36;0.0887)		GAAAATTCCCGGGACGATTCA	0.458													3	62					0	0	0.150653	0	0	A	7864237	G	A	7864237	3	1	30	1	0	0	0	0	1	0	0	0	4761	1116	39	1	73	1	DPPA3	12	7864237	Missense_Mutation	SNP	G	TCGA-DB-5281-01A-01D-1468-08		7864237	125987658	32	1312											
AICDA	57379	broad.mit.edu	37	12	8757943	8757943	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr12:8757943G>A	ENST00000229335.6	-	3	398	c.295C>T	c.(295-297)Cga>Tga	p.R99*	AICDA_ENST00000537228.1_Nonsense_Mutation_p.R99*	NM_020661.2	NP_065712.1	Q9GZX7	AICDA_HUMAN	activation-induced cytidine deaminase	99					B cell differentiation|DNA demethylation|mRNA processing|negative regulation of methylation-dependent chromatin silencing	cytoplasm	cytidine deaminase activity|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)	16	Lung SC(5;0.184)					GGGTTCCCTCGCAGAAAGTCG	0.667													15	56					0	0	0.500413	0	0	A	8757943	G	A	8757943	4	1	30	1	0	0	0	0	0	1	0	0	419	1095	38	1	313	1	AICDA	12	8757943	Nonsense_Mutation	SNP	G	TCGA-DB-5281-01A-01D-1468-08	893706	8757943	125093952	33	1313											
RARG	5916	broad.mit.edu	37	12	53609147	53609147	+	Silent	SNP	G	G	A			TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr12:53609147G>A	ENST00000425354.2	-	5	892	c.405C>T	c.(403-405)aaC>aaT	p.N135N	RARG_ENST00000327550.3_Silent_p.N63N|RARG_ENST00000394426.1_Silent_p.N135N|RARG_ENST00000338561.5_Silent_p.N124N|RARG_ENST00000543726.1_Silent_p.N113N|RARG_ENST00000543762.1_5'UTR	NM_000966.5	NP_000957.1	P13631	RARG_HUMAN	retinoic acid receptor, gamma	135					canonical Wnt receptor signaling pathway|embryonic eye morphogenesis|embryonic hindlimb morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|regulation of cell size|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid	integral to membrane|transcription factor complex	retinoic acid receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755)	TGGTCACCTTGTTGATGATAC	0.547													27	113					0	0	0.740014	0	0	A	53609147	G	A	53609147	2	1	30	1	0	0	0	0	0	0	0	1	13106	1368	48	2		2	RARG	12	53609147	Silent	SNP	G	TCGA-DB-5281-01A-01D-1468-08	44851204	53609147	80242748	34	1314											
NACA	4666	broad.mit.edu	37	12	57110586	57110586	+	Silent	SNP	G	G	A			TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr12:57110586G>A	ENST00000454682.1	-	3	5009	c.4728C>T	c.(4726-4728)tcC>tcT	p.S1576S	NACA_ENST00000546392.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000552540.1_Intron	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN	nascent polypeptide-associated complex alpha subunit	0					interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						AGGCCTCTTTGGAGGATGGGG	0.582			T	BCL6	NHL								10	39					0	0	0.411799	0	0	A	57110586	G	A	57110586	2	1	30	1	0	0	0	0	0	0	0	1	10181	1335	47	2		2	NACA	12	57110586	Silent	SNP	G	TCGA-DB-5281-01A-01D-1468-08	3501439	57110586	76741309	35	1315											
C12orf66	144577	broad.mit.edu	37	12	64588283	64588283	+	Missense_Mutation	SNP	C	C	A			TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr12:64588283C>A	ENST00000311915.8	-	3	704	c.677G>T	c.(676-678)tGg>tTg	p.W226L	C12orf66_ENST00000544871.1_Missense_Mutation_p.W173L|C12orf66_ENST00000398055.3_Missense_Mutation_p.W226L			Q96MD2	CL066_HUMAN	chromosome 12 open reading frame 66	226										central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)	5						GATCTGGCCCCACGTCTGCAG	0.537													3	68					0.00909568	0.00933504	0.150653	1	0	A	64588283	C	A	64588283	3	1	30	1	0	0	0	0	1	0	0	0	1715	595	21	5	664	5	C12orf66	12	64588283	Missense_Mutation	SNP	C	TCGA-DB-5281-01A-01D-1468-08	7477697	64588283	69263612	36	1316											
ACSS3	79611	broad.mit.edu	37	12	81647382	81647382	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr12:81647382C>T	ENST00000548058.1	+	15	2838	c.1928C>T	c.(1927-1929)cCc>cTc	p.P643L	ACSS3_ENST00000548324.1_Missense_Mutation_p.P325L|ACSS3_ENST00000261206.3_Missense_Mutation_p.P642L			Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3	643						mitochondrion	acetate-CoA ligase activity|ATP binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						AAACAGCTACCCAAAACCAGA	0.428													21	108					0	0	0.575678	0	0	T	81647382	C	T	81647382	3	4	30	1	0	0	0	0	1	0	0	0	190	623	22	2	1986	2	ACSS3	12	81647382	Missense_Mutation	SNP	C	TCGA-DB-5281-01A-01D-1468-08	17059099	81647382	52204513	37	1317											
RNF17	56163	broad.mit.edu	37	13	25425618	25425618	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr13:25425618C>T	ENST00000255324.5	+	24	3281	c.3229C>T	c.(3229-3231)Cct>Tct	p.P1077S	RNF17_ENST00000381921.1_Missense_Mutation_p.P1077S|RNF17_ENST00000339524.3_Missense_Mutation_p.P129S	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	1077					multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		ATGGCCATTACCTGTGAAAAT	0.343													11	60					0	0	0.361761	0	0	T	25425618	C	T	25425618	3	4	30	1	0	0	0	0	1	0	0	0	13513	507	18	2	3323	2	RNF17	13	25425618	Missense_Mutation	SNP	C	TCGA-DB-5281-01A-01D-1468-08		25425618	89744260	38	1318											
CCNA1	8900	broad.mit.edu	37	13	37015366	37015366	+	Missense_Mutation	SNP	T	T	C			TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr13:37015366T>C	ENST00000418263.1	+	7	1557	c.1207T>C	c.(1207-1209)Tgg>Cgg	p.W403R	CCNA1_ENST00000440264.1_Missense_Mutation_p.W360R|CCNA1_ENST00000449823.1_Missense_Mutation_p.W360R|CCNA1_ENST00000255465.4_Missense_Mutation_p.W404R	NM_001111045.1|NM_003914.3	NP_001104515.1|NP_003905.1	P78396	CCNA1_HUMAN	cyclin A1	404					cell division|G2/M transition of mitotic cell cycle|male meiosis I|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|spermatogenesis	cytosol|microtubule cytoskeleton|nucleoplasm	protein kinase binding			breast(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	35		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242)		CAAGCACTTTTGGGTAAGATT	0.398													39	73					0	0	0.847076	0	0	C	37015366	T	C	37015366	3	2	30	1	0	0	0	0	1	0	0	0	2931	1812	63	3	1236	3	CCNA1	13	37015366	Missense_Mutation	SNP	T	TCGA-DB-5281-01A-01D-1468-08	11589748	37015366	78154512	39	1319											
SMAD9	4093	broad.mit.edu	37	13	37427768	37427768	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr13:37427768C>T	ENST00000379826.4	-	6	1390	c.1048G>A	c.(1048-1050)Gtg>Atg	p.V350M	SMAD9_ENST00000399275.2_Missense_Mutation_p.V350M|SMAD9_ENST00000350148.5_Missense_Mutation_p.V313M	NM_001127217.2	NP_001120689.1	O15198	SMAD9_HUMAN	SMAD family member 9	350	MH2.				BMP signaling pathway|transforming growth factor beta receptor signaling pathway	cytosol|transcription factor complex	sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)	18		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)		all cancers(112;3.38e-07)|Epithelial(112;1.93e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00804)|BRCA - Breast invasive adenocarcinoma(63;0.0129)|GBM - Glioblastoma multiforme(144;0.026)		CTGTCACTCACGCACTCGGCA	0.562													6	43					0	0	0.248553	0	0	T	37427768	C	T	37427768	3	4	30	1	0	0	0	0	1	0	0	0	14818	536	19	1	363	1	SMAD9	13	37427768	Missense_Mutation	SNP	C	TCGA-DB-5281-01A-01D-1468-08	412402	37427768	77742110	40	1320											
MYCBP2	23077	broad.mit.edu	37	13	77714188	77714188	+	Missense_Mutation	SNP	A	A	C			TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr13:77714188A>C	ENST00000407578.2	-	51	7778	c.7512T>G	c.(7510-7512)atT>atG	p.I2504M	MYCBP2_ENST00000360084.5_De_novo_Start_InFrame|MYCBP2_ENST00000357337.6_Missense_Mutation_p.I2466M|MYCBP2_ENST00000544440.2_Missense_Mutation_p.I2466M	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	2466					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		TTACCTCATCAATAAAAGTGA	0.398													4	78					0	0	0.184627	0	0	C	77714188	A	C	77714188	3	2	30	1	0	0	0	0	1	0	0	0	10066	126	5	5	6656	5	MYCBP2	13	77714188	Missense_Mutation	SNP	A	TCGA-DB-5281-01A-01D-1468-08	40286420	77714188	37455690	41	1321											
TC2N	123036	broad.mit.edu	37	14	92268745	92268745	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr14:92268745C>T	ENST00000435962.2	-	4	645	c.322G>A	c.(322-324)Gga>Aga	p.G108R	TC2N_ENST00000360594.5_Missense_Mutation_p.G108R|TC2N_ENST00000556018.1_Missense_Mutation_p.G108R|TC2N_ENST00000340892.5_Missense_Mutation_p.G108R	NM_001128596.1	NP_001122068	Q8N9U0	TAC2N_HUMAN	tandem C2 domains, nuclear	108						nucleus				breast(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(5)|skin(1)|upper_aerodigestive_tract(2)	18				COAD - Colon adenocarcinoma(157;0.218)		TTTCGATCTCCAAAAGATGCT	0.403													15	61					0	0	0.457914	0	0	T	92268745	C	T	92268745	3	4	30	1	0	0	0	0	1	0	0	0	15725	603	21	2	1186	2	TC2N	14	92268745	Missense_Mutation	SNP	C	TCGA-DB-5281-01A-01D-1468-08		92268745	15080795	42	1322											
DYX1C1	161582	broad.mit.edu	37	15	55742505	55742505	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr15:55742505C>T	ENST00000321149.3	-	6	1065	c.698G>A	c.(697-699)cGc>cAc	p.R233H	DYX1C1_ENST00000380679.1_Missense_Mutation_p.R233H|DYX1C1_ENST00000448430.2_Missense_Mutation_p.R233H|DYX1C1-CCPG1_ENST00000565113.1_RNA|DYX1C1_ENST00000348518.3_Missense_Mutation_p.R233H|DYX1C1_ENST00000457155.2_Missense_Mutation_p.R233H	NM_130810.3	NP_570722.2	Q8WXU2	DYXC1_HUMAN	dyslexia susceptibility 1 candidate 1	233					neuron migration|regulation of estrogen receptor signaling pathway|regulation of proteasomal protein catabolic process	cytoplasm|nucleus	estrogen receptor binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18				all cancers(107;0.0118)|GBM - Glioblastoma multiforme(80;0.171)		GCCAACAGAGCGAGGAGCAGG	0.378													32	62					0	0	0.750413	0	0	T	55742505	C	T	55742505	3	4	30	1	0	0	0	0	1	0	0	0	4888	768	27	1	687	1	DYX1C1	15	55742505	Missense_Mutation	SNP	C	TCGA-DB-5281-01A-01D-1468-08		55742505	46788887	43	1323											
ALDH1A3	220	broad.mit.edu	37	15	101447398	101447398	+	Missense_Mutation	SNP	G	G	A	rs145630728	byFrequency	TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr15:101447398G>A	ENST00000329841.5	+	11	1838	c.1306G>A	c.(1306-1308)Gac>Aac	p.D436N	ALDH1A3_ENST00000346623.6_Missense_Mutation_p.D329N|RP11-66B24.4_ENST00000560351.1_RNA	NM_000693.2	NP_000684.2	P47895	AL1A3_HUMAN	aldehyde dehydrogenase 1 family, member A3	436					retinal metabolic process	cytoplasm	aldehyde dehydrogenase|protein homodimerization activity			NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(7)|lung(9)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	27	Lung NSC(78;0.00144)|all_lung(78;0.0018)|Melanoma(26;0.00852)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103)		NADH(DB00157)|Vitamin A(DB00162)	GAATAGCACCGACTATGGACT	0.438													68	40					0	0	0.870114	0	0	A	101447398	G	A	101447398	3	1	30	1	0	0	0	0	1	0	0	0	489	1058	37	1	1348	1	ALDH1A3	15	101447398	Missense_Mutation	SNP	G	TCGA-DB-5281-01A-01D-1468-08	45704893	101447398	1083994	44	1324											
TNRC6A	27327	broad.mit.edu	37	16	24802981	24802981	+	Silent	SNP	A	A	C			TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr16:24802981A>C	ENST00000395799.3	+	6	3147	c.3018A>C	c.(3016-3018)tcA>tcC	p.S1006S	TNRC6A_ENST00000315183.7_Silent_p.S1006S	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	1006	Sufficient for interaction with EIF2C1 and EIF2C4.				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		ATGGAACTTCAGCTTGGGGAG	0.473													23	57					0	0	0.639603	0	0	C	24802981	A	C	24802981	2	2	30	1	0	0	0	0	0	0	0	1	16400	175	7	5		5	TNRC6A	16	24802981	Silent	SNP	A	TCGA-DB-5281-01A-01D-1468-08		24802981	65551772	45	1325	2	2									
TNRC6A	27327	broad.mit.edu	37	16	24802982	24802982	+	Missense_Mutation	SNP	G	G	C			TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr16:24802982G>C	ENST00000395799.3	+	6	3148	c.3019G>C	c.(3019-3021)Gct>Cct	p.A1007P	TNRC6A_ENST00000315183.7_Missense_Mutation_p.A1007P	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	1007	Sufficient for interaction with EIF2C1 and EIF2C4.				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		TGGAACTTCAGCTTGGGGAGA	0.468													24	55					0	0	0.654019	0	0	C	24802982	G	C	24802982	3	2	30	1	0	0	0	0	1	0	0	0	16400	971	34	4	3041	4	TNRC6A	16	24802982	Missense_Mutation	SNP	G	TCGA-DB-5281-01A-01D-1468-08	1	24802982	65551771	46	1326	2	2									
TP53	7157	broad.mit.edu	37	17	7577538	7577538	+	Missense_Mutation	SNP	C	C	T	rs11540652		TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr17:7577538C>T	ENST00000420246.2	-	7	875	c.743G>A	c.(742-744)cGg>cAg	p.R248Q	TP53_ENST00000445888.2_Missense_Mutation_p.R248Q|TP53_ENST00000455263.2_Missense_Mutation_p.R248Q|TP53_ENST00000269305.4_Missense_Mutation_p.R248Q|TP53_ENST00000413465.2_Missense_Mutation_p.R248Q|TP53_ENST00000359597.4_Missense_Mutation_p.R248Q	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	248	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R248Q(580)|p.R248L(75)|p.R248P(19)|p.R155Q(18)|p.0?(8)|p.?(5)|p.R155L(3)|p.R155P(2)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248fs*>39(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(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)		GATGGGCCTCCGGTTCATGCC	0.572	R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	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)			39	45					0	0	0.840704	0	0	T	7577538	C	T	7577538	3	4	30	1	0	0	0	0	1	0	0	0	16442	652	23	1	547	1	TP53	17	7577538	Missense_Mutation	SNP	C	TCGA-DB-5281-01A-01D-1468-08		7577538	73617672	47	1327											
TP53	7157	broad.mit.edu	37	17	7579694	7579699	+	Splice_Site	DEL	CCTTAC	CCTTAC	-			TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr17:7579694_7579699delCCTTAC	ENST00000420246.2	-	3	229		c.e3+1		TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000269305.4_Splice_Site	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53						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.?(11)|p.0?(8)|p.S33fs*10(1)|p.P13fs*18(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)		cAACCCTTGTCCTTACCAGAACGTTG	0.587		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)			8	46	---	---	---	---						-	7579699	CCTTAC	-	7579694	8	5	30	1	0	1	0	1	0	0	1	0	16442	870	30	0		0	TP53	17	7579694	Splice_Site	DEL	CCTTAC	TCGA-DB-5281-01A-01D-1468-08	2156	7579694	73615516	48	1328											
NEK8	284086	broad.mit.edu	37	17	27068158	27068158	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr17:27068158C>T	ENST00000268766.6	+	13	1829	c.1795C>T	c.(1795-1797)Cga>Tga	p.R599*	AC010761.6_ENST00000584779.1_RNA	NM_178170.2	NP_835464.1	Q86SG6	NEK8_HUMAN	NIMA-related kinase 8	599						cytoplasm|primary cilium	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Lung NSC(42;0.0158)					CAATACTCGCCGAGGCAGTCG	0.572													24	109					0	0	0.693898	0	0	T	27068158	C	T	27068158	4	4	30	1	0	0	0	0	0	1	0	0	10377	644	23	1	1845	1	NEK8	17	27068158	Nonsense_Mutation	SNP	C	TCGA-DB-5281-01A-01D-1468-08	19488464	27068158	54127052	49	1329											
MUC16	94025	broad.mit.edu	37	19	9082521	9082521	+	Missense_Mutation	SNP	C	C	A			TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr19:9082521C>A	ENST00000397910.4	-	1	9497	c.9294G>T	c.(9292-9294)caG>caT	p.Q3098H		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3099	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTGCAATGGTCTGGCTTGAGG	0.478													44	248					3.40343e-31	3.73898e-31	0.870114	1	0	A	9082521	C	A	9082521	3	1	30	1	0	0	0	0	1	0	0	0	10021	912	32	4	34565	4	MUC16	19	9082521	Missense_Mutation	SNP	C	TCGA-DB-5281-01A-01D-1468-08		9082521	50046462	50	1330											
KANK2	25959	broad.mit.edu	37	19	11303539	11303539	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr19:11303539C>T	ENST00000432929.2	-	4	1577	c.1217G>A	c.(1216-1218)aGc>aAc	p.S406N	KANK2_ENST00000355150.5_Missense_Mutation_p.S406N|KANK2_ENST00000589894.1_Missense_Mutation_p.S406N|KANK2_ENST00000589359.1_Missense_Mutation_p.S406N|KANK2_ENST00000586659.1_Missense_Mutation_p.S406N	NM_001136191.2	NP_001129663.1	Q63ZY3	KANK2_HUMAN	KN motif and ankyrin repeat domains 2	406										endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						CTCTGTGATGCTAATCTTCTT	0.612													18	88					0	0	0.624587	0	0	T	11303539	C	T	11303539	3	4	30	1	0	0	0	0	1	0	0	0	8021	797	28	2	1402	2	KANK2	19	11303539	Missense_Mutation	SNP	C	TCGA-DB-5281-01A-01D-1468-08	2221018	11303539	47825444	51	1331											
ZNF20	7568	broad.mit.edu	37	19	12244606	12244606	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr19:12244606G>A	ENST00000334213.5	-	4	619	c.395C>T	c.(394-396)tCa>tTa	p.S132L	ZNF20_ENST00000600335.1_Intron|ZNF20_ENST00000485451.1_5'UTR|ZNF625-ZNF20_ENST00000430024.1_3'UTR	NM_001203250.1|NM_021143.3	NP_001190179.1|NP_066966.2	P17024	ZNF20_HUMAN	zinc finger protein 20	132					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(1)|lung(6)	8						ATACTCAGATGACTTGTGTCC	0.408													59	231					0	0	0.870114	0	0	A	12244606	G	A	12244606	3	1	30	1	0	0	0	0	1	0	0	0	17819	1294	45	2	1207	2	ZNF20	19	12244606	Missense_Mutation	SNP	G	TCGA-DB-5281-01A-01D-1468-08	941067	12244606	46884377	52	1332											
SLC1A6	6511	broad.mit.edu	37	19	15073101	15073101	+	Silent	SNP	G	G	A	rs150916469	byFrequency	TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr19:15073101G>A	ENST00000598504.1	-	8	2007	c.648C>T	c.(646-648)aaC>aaT	p.N216N	SLC1A6_ENST00000221742.3_Silent_p.N216N|SLC1A6_ENST00000544886.2_Silent_p.N216N|SLC1A6_ENST00000600144.1_Silent_p.N216N|SLC1A6_ENST00000430939.2_Silent_p.N152N	NM_001272087.1	NP_001259016.1	P48664	EAA4_HUMAN	solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6	216					synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42					L-Glutamic Acid(DB00142)	GCTCAGACCCGTTCTCTGTCC	0.557													41	139					0	0	0.870114	0	0	A	15073101	G	A	15073101	2	1	30	1	0	0	0	0	0	0	0	1	14491	1136	40	1		1	SLC1A6	19	15073101	Silent	SNP	G	TCGA-DB-5281-01A-01D-1468-08	2828495	15073101	44055882	53	1333											
HNRNPL	3191	broad.mit.edu	37	19	39328114	39328114	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr19:39328114G>A	ENST00000221419.5	-	12	1987	c.1621C>T	c.(1621-1623)Cgc>Tgc	p.R541C	AC104534.3_ENST00000594769.1_Silent_p.S157S|HNRNPL_ENST00000600873.1_Missense_Mutation_p.R408C	NM_001533.2	NP_001524.2	P14866	HNRPL_HUMAN	heterogeneous nuclear ribonucleoprotein L	541					nuclear mRNA splicing, via spliceosome	cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding|transcription regulatory region DNA binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575)			GAGGAGCTGCGCTCACCTGAT	0.512													42	78					0	0	0.840704	0	0	A	39328114	G	A	39328114	3	1	30	1	0	0	0	0	1	0	0	0	7311	1087	38	1	156	1	HNRNPL	19	39328114	Missense_Mutation	SNP	G	TCGA-DB-5281-01A-01D-1468-08	24255013	39328114	19800869	54	1334											
LILRB5	10990	broad.mit.edu	37	19	54754843	54754843	+	Missense_Mutation	SNP	A	A	G			TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr19:54754843A>G	ENST00000450632.1	-	13	1869	c.1792T>C	c.(1792-1794)Tcc>Ccc	p.S598P	LILRB5_ENST00000449561.2_Intron|LILRB5_ENST00000345866.6_Intron|LILRB5_ENST00000316219.5_Intron			O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5	423					cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GGGGGTGGGGAGGCCTGGGGG	0.607													4	40					0	0	0.184627	0	0	G	54754843	A	G	54754843	3	3	30	1	0	0	0	0	1	0	0	0	8834	319	11	3		3	LILRB5	19	54754843	Missense_Mutation	SNP	A	TCGA-DB-5281-01A-01D-1468-08	15426729	54754843	4374140	55	1335											
NLRP4	147945	broad.mit.edu	37	19	56369610	56369610	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr19:56369610C>T	ENST00000301295.6	+	3	1273	c.851C>T	c.(850-852)cCg>cTg	p.P284L	NLRP4_ENST00000346986.5_Missense_Mutation_p.P284L|NLRP4_ENST00000587891.1_Missense_Mutation_p.P209L	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	284	NACHT.						ATP binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		CCCGTGTGCCCGAAGGAGCTC	0.537													29	142					0	0	0.717897	0	0	T	56369610	C	T	56369610	3	4	30	1	0	0	0	0	1	0	0	0	10526	652	23	1	857	1	NLRP4	19	56369610	Missense_Mutation	SNP	C	TCGA-DB-5281-01A-01D-1468-08	1614767	56369610	2759373	56	1336											
ZNF71	58491	broad.mit.edu	37	19	57132875	57132875	+	Missense_Mutation	SNP	G	G	A	rs141566979	byFrequency	TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr19:57132875G>A	ENST00000328070.6	+	3	454	c.220G>A	c.(220-222)Gca>Aca	p.A74T		NM_021216.4	NP_067039.1	Q9NQZ8	ZNF71_HUMAN	zinc finger protein 71	74						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.A74T(1)		endometrium(3)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)		CTCAGTACCCGCATGTCATGA	0.617													11	68					0	0	0.411799	0	0	A	57132875	G	A	57132875	3	1	30	1	0	0	0	0	1	0	0	0	18170	1087	38	1	222	1	ZNF71	19	57132875	Missense_Mutation	SNP	G	TCGA-DB-5281-01A-01D-1468-08	763265	57132875	1996108	57	1337											
NSFL1C	55968	broad.mit.edu	37	20	1426390	1426390	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr20:1426390C>T	ENST00000216879.4	-	8	1738	c.871G>A	c.(871-873)Gaa>Aaa	p.E291K	NSFL1C_ENST00000461211.1_5'UTR|NSFL1C_ENST00000381658.4_Missense_Mutation_p.E180K|NSFL1C_ENST00000476071.1_Missense_Mutation_p.E293K|NSFL1C_ENST00000350991.4_Missense_Mutation_p.E293K|NSFL1C_ENST00000353088.2_Missense_Mutation_p.E260K	NM_016143.4	NP_057227.2	Q9UNZ2	NSF1C_HUMAN	NSFL1 (p97) cofactor (p47)	291	UBX.					chromosome|Golgi stack|nucleus	lipid binding|protein binding			breast(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	16						GGCTCTGATTCGTCGATTAAG	0.532													17	257					0	0	0.557998	0	0	T	1426390	C	T	1426390	3	4	30	1	0	0	0	0	1	0	0	0	10720	893	31	1	249	1	NSFL1C	20	1426390	Missense_Mutation	SNP	C	TCGA-DB-5281-01A-01D-1468-08		1426390	61599130	58	1338											
ATP5O	539	broad.mit.edu	37	21	35288047	35288047	+	Silent	SNP	G	G	A			TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr21:35288047G>A	ENST00000290299.2	-	1	237	c.21C>T	c.(19-21)tcC>tcT	p.S7S	LINC00649_ENST00000598119.1_RNA|LINC00649_ENST00000596365.1_RNA|LINC00649_ENST00000597626.1_RNA	NM_001697.2	NP_001688.1			ATP synthase, H+ transporting, mitochondrial F1 complex, O subunit											large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	5						GGGAGAGCCCGGACACTGCTG	0.652													5	4					0	0	0.184627	0	0	A	35288047	G	A	35288047	2	1	30	1	0	0	0	0	0	0	0	1	1160	1103	39	1		1	ATP5O	21	35288047	Silent	SNP	G	TCGA-DB-5281-01A-01D-1468-08		35288047	12841848	59	1339											
BEND2	139105	broad.mit.edu	37	X	18234679	18234679	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chrX:18234679C>T	ENST00000380033.4	-	2	332	c.200G>A	c.(199-201)gGc>gAc	p.G67D	BEND2_ENST00000380030.3_Missense_Mutation_p.G67D	NM_153346.4	NP_699177.2	Q8NDZ0	BEND2_HUMAN	BEN domain containing 2	67										NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1)	49						GCCATCATTGCCGCCTGGAAA	0.408													38	6					0	0	0.847076	0	0	T	18234679	C	T	18234679	3	4	30	1	0	0	0	0	1	0	0	0	1396	739	26	2	2277	2	BEND2	23	18234679	Missense_Mutation	SNP	C	TCGA-DB-5281-01A-01D-1468-08		18234679	137035881	60	1340											
ATRX	546	broad.mit.edu	37	X	76940083	76940083	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chrX:76940083C>T	ENST00000373344.5	-	9	879	c.665G>A	c.(664-666)tGg>tAg	p.W222*	ATRX_ENST00000395603.3_Nonsense_Mutation_p.W184*|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	222	ADD.		W -> S (in ATRX).		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)	TTCCGCACACCACCTGAAATG	0.343			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						81	13					0	0	0.870114	0	0	T	76940083	C	T	76940083	4	4	30	1	0	0	0	0	0	1	0	0	1206	595	21	2	6921	2	ATRX	23	76940083	Nonsense_Mutation	SNP	C	TCGA-DB-5281-01A-01D-1468-08	58705404	76940083	78330477	61	1341											
CYP4A11	1579	broad.mit.edu	37	1	47395834	47395834	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A4X9-01A-11D-A26M-08	TCGA-DB-A4X9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eea26f3f-6798-4b36-8e5c-a1de8c55f666	59d8d896-b937-4a7b-b503-f112f5570356	g.chr1:47395834G>A	ENST00000310638.4	-	12	1544	c.1513C>T	c.(1513-1515)Cgt>Tgt	p.R505C	CYP4A11_ENST00000371904.4_Missense_Mutation_p.R506C|CYP4A11_ENST00000462347.1_Missense_Mutation_p.R407C	NM_000778.3	NP_000769.2	Q02928	CP4AB_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 11	505			NGIHLRLRRLPNPCEDKDQL -> MESTCVSGGSLTLVKTR TSFEGLHLPSCLPDPRFCPLPVCPYPVFCLPTFPSSHLPAV PQSACPSLSHLSPGLPTCLSTCLLPTCISCWEKS (in CYP4A11V).		long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding			endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36					NADH(DB00157)	CTCCTGAGACGCAGGTGGATT	0.587													18	25					0	0	1	0	0	A	47395834	G	A	47395834	3	1	31	1	0	0	0	0	1	0	0	0	4206	1087	38	1	50	1	CYP4A11	1	47395834	Missense_Mutation	SNP	G	TCGA-DB-A4X9-01A-11D-A26M-08		47395834	201854787	1	1342											
GNG12	55970	broad.mit.edu	37	1	68171150	68171151	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DB-A4X9-01A-11D-A26M-08	TCGA-DB-A4X9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eea26f3f-6798-4b36-8e5c-a1de8c55f666	59d8d896-b937-4a7b-b503-f112f5570356	g.chr1:68171150_68171151insT	ENST00000370982.3	-	4	401_402	c.202_203insA	c.(202-204)actfs	p.T68fs		NM_018841.5	NP_061329.3	Q9UBI6	GBG12_HUMAN	guanine nucleotide binding protein (G protein), gamma 12	68					cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|synaptic transmission	heterotrimeric G-protein complex	signal transducer activity			lung(3)	3						GATGATGCAAGTTTTTTTATCC	0.436													23	38	---	---	---	---						T	68171151	-	T	68171150	7	5	31	1	0	1	1	0	0	0	0	0	6567	1029	36	0	19	0	GNG12	1	68171150	Frame_Shift_Ins	INS	-	TCGA-DB-A4X9-01A-11D-A26M-08	20775316	68171150	181079471	2	1343											
DCLRE1B	64858	broad.mit.edu	37	1	114453833	114453833	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A4X9-01A-11D-A26M-08	TCGA-DB-A4X9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eea26f3f-6798-4b36-8e5c-a1de8c55f666	59d8d896-b937-4a7b-b503-f112f5570356	g.chr1:114453833C>T	ENST00000369563.3	+	4	1065	c.619C>T	c.(619-621)Cgc>Tgc	p.R207C	DCLRE1B_ENST00000466480.1_3'UTR	NM_022836.3	NP_073747.1	Q9H816	DCR1B_HUMAN	DNA cross-link repair 1B	207					cell cycle checkpoint|DNA repair|protection from non-homologous end joining at telomere|telomeric 3' overhang formation|telomeric loop formation	centrosome|chromosome, telomeric region|nucleus	5'-3' exonuclease activity|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(6)|stomach(1)	18	Lung SC(450;0.184)	all_cancers(81;1.46e-05)|all_epithelial(167;2.42e-05)|all_lung(203;0.000353)|Lung NSC(69;0.000518)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GAGTCCTCGGCGCCTGGAGTT	0.532								Other identified genes with known or suspected DNA repair function					19	19					0	0	1	0	0	T	114453833	C	T	114453833	3	4	31	1	0	0	0	0	1	0	0	0	4318	768	27	1	633	1	DCLRE1B	1	114453833	Missense_Mutation	SNP	C	TCGA-DB-A4X9-01A-11D-A26M-08	46282683	114453833	134796788	3	1344											
NUP210L	91181	broad.mit.edu	37	1	153995731	153995731	+	Silent	SNP	G	G	A			TCGA-DB-A4X9-01A-11D-A26M-08	TCGA-DB-A4X9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eea26f3f-6798-4b36-8e5c-a1de8c55f666	59d8d896-b937-4a7b-b503-f112f5570356	g.chr1:153995731G>A	ENST00000368559.3	-	31	4236	c.4165C>T	c.(4165-4167)Cta>Tta	p.L1389L	NUP210L_ENST00000271854.3_Silent_p.L1389L|NUP210L_ENST00000368553.1_Silent_p.L322L	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	1389						integral to membrane				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			GCTGTGTATAGCTTGGGTTGG	0.493													4	53					0	0	1	0	0	A	153995731	G	A	153995731	2	1	31	1	0	0	0	0	0	0	0	1	10809	962	34	2		2	NUP210L	1	153995731	Silent	SNP	G	TCGA-DB-A4X9-01A-11D-A26M-08	39541898	153995731	95254890	4	1345											
TOR1AIP2	163590	broad.mit.edu	37	1	179819995	179819995	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DB-A4X9-01A-11D-A26M-08	TCGA-DB-A4X9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eea26f3f-6798-4b36-8e5c-a1de8c55f666	59d8d896-b937-4a7b-b503-f112f5570356	g.chr1:179819995G>A	ENST00000367612.3	-	4	925	c.538C>T	c.(538-540)Cga>Tga	p.R180*	TOR1AIP2_ENST00000609928.1_Nonsense_Mutation_p.R180*	NM_145034.4	NP_659471.1	Q8NFQ8	TOIP2_HUMAN	torsin A interacting protein 2	180						endoplasmic reticulum membrane|integral to membrane	protein binding			cervix(1)|endometrium(3)|large_intestine(1)|lung(10)|ovary(1)|skin(2)	18						GCCAGCAGTCGCCTCCTCAGT	0.542													24	34					0	0	1	0	0	A	179819995	G	A	179819995	4	1	31	1	0	0	0	0	0	1	0	0	16434	1095	38	1	886	1	TOR1AIP2	1	179819995	Nonsense_Mutation	SNP	G	TCGA-DB-A4X9-01A-11D-A26M-08	25824264	179819995	69430626	5	1346											
OR2T2	401992	broad.mit.edu	37	1	248616320	248616320	+	Silent	SNP	C	C	T			TCGA-DB-A4X9-01A-11D-A26M-08	TCGA-DB-A4X9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eea26f3f-6798-4b36-8e5c-a1de8c55f666	59d8d896-b937-4a7b-b503-f112f5570356	g.chr1:248616320C>T	ENST00000342927.3	+	1	244	c.222C>T	c.(220-222)taC>taT	p.Y74Y		NM_001004136.1	NP_001004136.1	Q6IF00	OR2T2_HUMAN	olfactory receptor, family 2, subfamily T, member 2	74					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	37	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			ATACCATCTACATCTGTATCA	0.527													15	76					0	0	1	0	0	T	248616320	C	T	248616320	2	4	31	1	0	0	0	0	0	0	0	1	11068	489	17	2		2	OR2T2	1	248616320	Silent	SNP	C	TCGA-DB-A4X9-01A-11D-A26M-08	68796325	248616320	634301	6	1347											
TLK1	9874	broad.mit.edu	37	2	171871388	171871388	+	Missense_Mutation	SNP	T	T	C			TCGA-DB-A4X9-01A-11D-A26M-08	TCGA-DB-A4X9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eea26f3f-6798-4b36-8e5c-a1de8c55f666	59d8d896-b937-4a7b-b503-f112f5570356	g.chr2:171871388T>C	ENST00000442919.2	-	13	1778	c.1163A>G	c.(1162-1164)aAa>aGa	p.K388R	TLK1_ENST00000521943.1_Missense_Mutation_p.K388R|TLK1_ENST00000431350.2_Missense_Mutation_p.K436R|TLK1_ENST00000434911.2_Missense_Mutation_p.K340R|TLK1_ENST00000360843.3_Missense_Mutation_p.K457R	NM_012290.4	NP_036422.3	Q9UKI8	TLK1_HUMAN	tousled-like kinase 1	436					cell cycle|chromatin modification|intracellular protein transport|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|liver(3)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						GTTTATTCTTTTCAGCTCACG	0.378													6	35					0	0	1	0	0	C	171871388	T	C	171871388	3	2	31	1	0	0	0	0	1	0	0	0	16003	1841	64	3	1029	3	TLK1	2	171871388	Missense_Mutation	SNP	T	TCGA-DB-A4X9-01A-11D-A26M-08		171871388	71327985	7	1348											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-DB-A4X9-01A-11D-A26M-08	TCGA-DB-A4X9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eea26f3f-6798-4b36-8e5c-a1de8c55f666	59d8d896-b937-4a7b-b503-f112f5570356	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	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								12	20					0	0	1	0	0	T	209113112	C	T	209113112	3	4	31	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-DB-A4X9-01A-11D-A26M-08	37241724	209113112	34086261	8	1349											
ERBB4	2066	broad.mit.edu	37	2	212587211	212587211	+	Missense_Mutation	SNP	G	G	C			TCGA-DB-A4X9-01A-11D-A26M-08	TCGA-DB-A4X9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eea26f3f-6798-4b36-8e5c-a1de8c55f666	59d8d896-b937-4a7b-b503-f112f5570356	g.chr2:212587211G>C	ENST00000342788.4	-	7	1100	c.790C>G	c.(790-792)Caa>Gaa	p.Q264E	ERBB4_ENST00000436443.1_Missense_Mutation_p.Q264E|ERBB4_ENST00000402597.1_Missense_Mutation_p.Q264E	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	264	Cys-rich.				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		ACAAAGGTTTGGGGACACTGA	0.383										TSP Lung(8;0.080)			13	12					0	0	1	0	0	C	212587211	G	C	212587211	3	2	31	1	0	0	0	0	1	0	0	0	5237	1357	47	5	3224	5	ERBB4	2	212587211	Missense_Mutation	SNP	G	TCGA-DB-A4X9-01A-11D-A26M-08	3474099	212587211	30612162	9	1350											
FEZF2	55079	broad.mit.edu	37	3	62355877	62355877	+	Missense_Mutation	SNP	T	T	C			TCGA-DB-A4X9-01A-11D-A26M-08	TCGA-DB-A4X9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eea26f3f-6798-4b36-8e5c-a1de8c55f666	59d8d896-b937-4a7b-b503-f112f5570356	g.chr3:62355877T>C	ENST00000283268.3	-	5	1555	c.1261A>G	c.(1261-1263)Act>Gct	p.T421A	FEZF2_ENST00000475839.1_Missense_Mutation_p.T421A|FEZF2_ENST00000486811.1_Missense_Mutation_p.T421A	NM_018008.3	NP_060478.3	Q8TBJ5	FEZF2_HUMAN	FEZ family zinc finger 2	421					transcription, DNA-dependent	nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|lung(8)|skin(1)	20		Lung SC(41;0.0262)		BRCA - Breast invasive adenocarcinoma(55;0.000221)|KIRC - Kidney renal clear cell carcinoma(15;0.00834)|Kidney(15;0.00957)		TTGCCGCAAGTGGCGCACGTG	0.527													38	55					0	0	1	0	0	C	62355877	T	C	62355877	3	2	31	1	0	0	0	0	1	0	0	0	5859	1696	59	3	122	3	FEZF2	3	62355877	Missense_Mutation	SNP	T	TCGA-DB-A4X9-01A-11D-A26M-08		62355877	135666553	10	1351											
SLC9A3	6550	broad.mit.edu	37	5	491957	491957	+	Silent	SNP	G	G	A			TCGA-DB-A4X9-01A-11D-A26M-08	TCGA-DB-A4X9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eea26f3f-6798-4b36-8e5c-a1de8c55f666	59d8d896-b937-4a7b-b503-f112f5570356	g.chr5:491957G>A	ENST00000264938.3	-	2	450	c.441C>T	c.(439-441)gcC>gcT	p.A147A	SLC9A3_ENST00000514375.1_Silent_p.A147A	NM_004174.2	NP_004165.2	P48764	SL9A3_HUMAN	solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3	147						cell surface|integral to membrane	sodium:hydrogen antiporter activity			NS(2)|biliary_tract(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(16)|prostate(3)|skin(2)|urinary_tract(1)	37			Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			TACCCACGACGGCGTACAACA	0.642													4	9					0	0	1	0	0	A	491957	G	A	491957	2	1	31	1	0	0	0	0	0	0	0	1	14768	1103	39	1		1	SLC9A3	5	491957	Silent	SNP	G	TCGA-DB-A4X9-01A-11D-A26M-08		491957	180423303	11	1352											
RBM27	54439	broad.mit.edu	37	5	145608531	145608531	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DB-A4X9-01A-11D-A26M-08	TCGA-DB-A4X9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eea26f3f-6798-4b36-8e5c-a1de8c55f666	59d8d896-b937-4a7b-b503-f112f5570356	g.chr5:145608531delA	ENST00000265271.5	+	4	492	c.326delA	c.(325-327)gaafs	p.E110fs	RBM27_ENST00000506502.1_Frame_Shift_Del_p.E110fs	NM_018989.1	NP_061862.1	Q9P2N5	RBM27_HUMAN	RNA binding motif protein 27	110					mRNA processing	cytoplasm|nuclear speck	nucleotide binding|RNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(3)|endometrium(4)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCAGCAGAGGAAGAACGAGAT	0.418													27	41	---	---	---	---						-	145608531	A	-	145608531	7	5	31	1	0	1	0	1	0	0	0	0	13179	246	9	0	340	0	RBM27	5	145608531	Frame_Shift_Del	DEL	A	TCGA-DB-A4X9-01A-11D-A26M-08	145116574	145608531	35306729	12	1353											
FARS2	10667	broad.mit.edu	37	6	5369186	5369186	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A4X9-01A-11D-A26M-08	TCGA-DB-A4X9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eea26f3f-6798-4b36-8e5c-a1de8c55f666	59d8d896-b937-4a7b-b503-f112f5570356	g.chr6:5369186G>A	ENST00000324331.6	+	2	719	c.383G>A	c.(382-384)aGc>aAc	p.S128N	FARS2_ENST00000274680.4_Missense_Mutation_p.S128N			O95363	SYFM_HUMAN	phenylalanyl-tRNA synthetase 2, mitochondrial	128					phenylalanyl-tRNA aminoacylation|tRNA processing	mitochondrial matrix|soluble fraction	ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|tRNA binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|prostate(1)|stomach(2)	15	Ovarian(93;0.11)	all_hematologic(90;0.0104)			L-Phenylalanine(DB00120)	AACTTTGACAGCCTGCTCATC	0.557													15	18					0	0	1	0	0	A	5369186	G	A	5369186	3	1	31	1	0	0	0	0	1	0	0	0	5711	971	34	2	385	2	FARS2	6	5369186	Missense_Mutation	SNP	G	TCGA-DB-A4X9-01A-11D-A26M-08		5369186	165745881	13	1354											
SYNJ2	8871	broad.mit.edu	37	6	158516963	158516963	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A4X9-01A-11D-A26M-08	TCGA-DB-A4X9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eea26f3f-6798-4b36-8e5c-a1de8c55f666	59d8d896-b937-4a7b-b503-f112f5570356	g.chr6:158516963G>A	ENST00000355585.4	+	27	4133	c.4058G>A	c.(4057-4059)aGc>aAc	p.S1353N	SYNJ2_ENST00000367112.1_Missense_Mutation_p.S438N|SYNJ2_ENST00000367122.2_Missense_Mutation_p.S1308N	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	1353							nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		CAGAGCAACAGCCAGCTTCTC	0.642													9	10					0	0	1	0	0	A	158516963	G	A	158516963	3	1	31	1	0	0	0	0	1	0	0	0	15510	971	34	2	4164	2	SYNJ2	6	158516963	Missense_Mutation	SNP	G	TCGA-DB-A4X9-01A-11D-A26M-08	153147777	158516963	12598104	14	1355											
FGL2	10875	broad.mit.edu	37	7	76826042	76826042	+	Silent	SNP	G	G	A			TCGA-DB-A4X9-01A-11D-A26M-08	TCGA-DB-A4X9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eea26f3f-6798-4b36-8e5c-a1de8c55f666	59d8d896-b937-4a7b-b503-f112f5570356	g.chr7:76826042G>A	ENST00000248598.5	-	2	906	c.874C>T	c.(874-876)Ctg>Ttg	p.L292L	RP11-467H10.2_ENST00000459742.1_RNA|CCDC146_ENST00000285871.4_Intron|CCDC146_ENST00000431197.1_Intron	NM_006682.2	NP_006673.1	Q14314	FGL2_HUMAN	fibrinogen-like 2	292	Fibrinogen C-terminal.				signal transduction	fibrinogen complex	receptor binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	13						CTCTTGGTCAGAAGATGAATT	0.408													5	71					0	0	1	0	0	A	76826042	G	A	76826042	2	1	31	1	0	0	0	0	0	0	0	1	5906	933	33	2		2	FGL2	7	76826042	Silent	SNP	G	TCGA-DB-A4X9-01A-11D-A26M-08		76826042	82312621	15	1356											
COL1A2	1278	broad.mit.edu	37	7	94056997	94056997	+	Missense_Mutation	SNP	A	A	G			TCGA-DB-A4X9-01A-11D-A26M-08	TCGA-DB-A4X9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eea26f3f-6798-4b36-8e5c-a1de8c55f666	59d8d896-b937-4a7b-b503-f112f5570356	g.chr7:94056997A>G	ENST00000297268.6	+	49	3797	c.3326A>G	c.(3325-3327)gAc>gGc	p.D1109G		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	1109					axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	GGTGGTTATGACTTTGGTTAC	0.532										HNSCC(75;0.22)			32	57					0	0	1	0	0	G	94056997	A	G	94056997	3	3	31	1	0	0	0	0	1	0	0	0	3701	275	10	3	3520	3	COL1A2	7	94056997	Missense_Mutation	SNP	A	TCGA-DB-A4X9-01A-11D-A26M-08	17230955	94056997	65081666	16	1357											
SFMBT2	57713	broad.mit.edu	37	10	7213994	7213994	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DB-A4X9-01A-11D-A26M-08	TCGA-DB-A4X9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eea26f3f-6798-4b36-8e5c-a1de8c55f666	59d8d896-b937-4a7b-b503-f112f5570356	g.chr10:7213994delC	ENST00000361972.4	-	19	2368	c.2278delG	c.(2278-2280)gccfs	p.A760fs	SFMBT2_ENST00000397167.1_Frame_Shift_Del_p.A760fs	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	760					regulation of transcription, DNA-dependent	nucleus				NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						AGGGTGACGGCCCTCCGGGGC	0.741													2	4	---	---	---	---						-	7213994	C	-	7213994	7	5	31	1	0	1	0	1	0	0	0	0	14212	739	26	0	418	0	SFMBT2	10	7213994	Frame_Shift_Del	DEL	C	TCGA-DB-A4X9-01A-11D-A26M-08		7213994	128320753	17	1358											
OR10G7	390265	broad.mit.edu	37	11	123909445	123909445	+	Silent	SNP	G	G	C			TCGA-DB-A4X9-01A-11D-A26M-08	TCGA-DB-A4X9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eea26f3f-6798-4b36-8e5c-a1de8c55f666	59d8d896-b937-4a7b-b503-f112f5570356	g.chr11:123909445G>C	ENST00000330487.5	-	1	272	c.264C>G	c.(262-264)ggC>ggG	p.G88G		NM_001004463.1	NP_001004463.1	Q8NGN6	O10G7_HUMAN	olfactory receptor, family 10, subfamily G, member 7	88					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1)	47		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		AGATAGTCCTGCCGCTTGGGG	0.527													12	129					0	0	1	0	0	C	123909445	G	C	123909445	2	2	31	1	0	0	0	0	0	0	0	1	10950	1306	46	5		5	OR10G7	11	123909445	Silent	SNP	G	TCGA-DB-A4X9-01A-11D-A26M-08		123909445	11097071	18	1359											
VPS13C	54832	broad.mit.edu	37	15	62256122	62256122	+	Missense_Mutation	SNP	A	A	C			TCGA-DB-A4X9-01A-11D-A26M-08	TCGA-DB-A4X9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eea26f3f-6798-4b36-8e5c-a1de8c55f666	59d8d896-b937-4a7b-b503-f112f5570356	g.chr15:62256122A>C	ENST00000261517.5	-	32	3316	c.3243T>G	c.(3241-3243)atT>atG	p.I1081M	VPS13C_ENST00000395898.3_Missense_Mutation_p.I1038M|VPS13C_ENST00000395896.4_Missense_Mutation_p.I1081M|VPS13C_ENST00000249837.3_Missense_Mutation_p.I1038M	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13 homolog C (S. cerevisiae)	1081					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						TGAAATCAATAATGTCACTAT	0.353													7	35					0	0	1	0	0	C	62256122	A	C	62256122	3	2	31	1	0	0	0	0	1	0	0	0	17251	358	13	5	8262	5	VPS13C	15	62256122	Missense_Mutation	SNP	A	TCGA-DB-A4X9-01A-11D-A26M-08		62256122	40275270	19	1360											
SMAD3	4088	broad.mit.edu	37	15	67457635	67457635	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A4X9-01A-11D-A26M-08	TCGA-DB-A4X9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eea26f3f-6798-4b36-8e5c-a1de8c55f666	59d8d896-b937-4a7b-b503-f112f5570356	g.chr15:67457635G>A	ENST00000327367.4	+	3	755	c.445G>A	c.(445-447)Gag>Aag	p.E149K	SMAD3_ENST00000540846.2_Missense_Mutation_p.E44K|SMAD3_ENST00000439724.3_Missense_Mutation_p.E105K	NM_005902.3	NP_005893.1	P84022	SMAD3_HUMAN	SMAD family member 3	149	Linker.				activation of caspase activity|cell cycle arrest|cell-cell junction organization|evasion of host defenses by virus|immune response|induction of apoptosis|negative regulation of cell growth|negative regulation of mitotic cell cycle|negative regulation of protein catabolic process|negative regulation of protein phosphorylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|primary miRNA processing|protein stabilization|regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway|transport|wound healing	cytosol|nuclear inner membrane|receptor complex	beta-catenin binding|co-SMAD binding|metal ion binding|protein homodimerization activity|protein kinase binding|R-SMAD binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transforming growth factor beta receptor binding|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|ubiquitin protein ligase binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(11)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31				Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(7;0.125)		GATCCCGGCCGAGTTCCCCCC	0.602													54	71					0	0	1	0	0	A	67457635	G	A	67457635	3	1	31	1	0	0	0	0	1	0	0	0	14813	1059	37	1	533	1	SMAD3	15	67457635	Missense_Mutation	SNP	G	TCGA-DB-A4X9-01A-11D-A26M-08	5201513	67457635	35073757	20	1361											
CES3	23491	broad.mit.edu	37	16	67006756	67006756	+	Splice_Site	SNP	G	G	A			TCGA-DB-A4X9-01A-11D-A26M-08	TCGA-DB-A4X9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eea26f3f-6798-4b36-8e5c-a1de8c55f666	59d8d896-b937-4a7b-b503-f112f5570356	g.chr16:67006756G>A	ENST00000303334.4	+	13	1591		c.e13-1		CES3_ENST00000543856.1_Splice_Site|CES3_ENST00000394037.1_Splice_Site	NM_024922.5	NP_079198.2	Q6UWW8	EST3_HUMAN	carboxylesterase 3							endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	24		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0488)|Epithelial(162;0.127)		CTCCCACCCAGGGACCCCAAT	0.602													26	37					0	0	1	0	0	A	67006756	G	A	67006756	5	1	31	1	0	0	0	0	0	0	1	0	3293	1014	35	2	1570	2	CES3	16	67006756	Splice_Site	SNP	G	TCGA-DB-A4X9-01A-11D-A26M-08		67006756	23347997	21	1362											
THAP11	57215	broad.mit.edu	37	16	67876787	67876787	+	Silent	SNP	G	G	A			TCGA-DB-A4X9-01A-11D-A26M-08	TCGA-DB-A4X9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eea26f3f-6798-4b36-8e5c-a1de8c55f666	59d8d896-b937-4a7b-b503-f112f5570356	g.chr16:67876787G>A	ENST00000303596.1	+	1	575	c.330G>A	c.(328-330)caG>caA	p.Q110Q	CENPT_ENST00000562787.1_Intron	NM_020457.2	NP_065190.2	Q96EK4	THA11_HUMAN	THAP domain containing 11	110	Gln-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|identical protein binding|metal ion binding			cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|urinary_tract(1)	8		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00412)|Epithelial(162;0.018)|all cancers(182;0.118)		aacagcagcagcagcagcaac	0.682													6	32					0	0	1	0	0	A	67876787	G	A	67876787	2	1	31	1	0	0	0	0	0	0	0	1	15903	962	34	2		2	THAP11	16	67876787	Silent	SNP	G	TCGA-DB-A4X9-01A-11D-A26M-08	870031	67876787	22477966	22	1363											
TP53	7157	broad.mit.edu	37	17	7577141	7577141	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A4X9-01A-11D-A26M-08	TCGA-DB-A4X9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eea26f3f-6798-4b36-8e5c-a1de8c55f666	59d8d896-b937-4a7b-b503-f112f5570356	g.chr17:7577141C>T	ENST00000420246.2	-	8	929	c.797G>A	c.(796-798)gGa>gAa	p.G266E	TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.G266E|TP53_ENST00000269305.4_Missense_Mutation_p.G266E|TP53_ENST00000455263.2_Missense_Mutation_p.G266E|TP53_ENST00000359597.4_Missense_Mutation_p.G266E	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	266	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		G -> A (in sporadic cancers; somatic mutation).|G -> E (in sporadic cancers; somatic mutation).|G -> R (in sporadic cancers; somatic mutation).|G -> V (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.G266E(50)|p.G266V(42)|p.0?(8)|p.?(3)|p.G266fs*79(3)|p.G262_F270delGNLLGRNSF(2)|p.G266A(2)|p.G266_E271delGRNSFE(2)|p.G262_S269delGNLLGRNS(2)|p.G266fs*4(1)|p.G266T(1)|p.L265_K305del41(1)|p.E258fs*71(1)|p.L265_R267delLGR(1)|p.G266_N268delGRN(1)|p.G262fs*2(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)		GCTGTTCCGTCCCAGTAGATT	0.517		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)			3	0					0	0	1	0	0	T	7577141	C	T	7577141	3	4	31	1	0	0	0	0	1	0	0	0	16442	855	30	2	489	2	TP53	17	7577141	Missense_Mutation	SNP	C	TCGA-DB-A4X9-01A-11D-A26M-08		7577141	73618069	23	1364	3	3									
TP53	7157	broad.mit.edu	37	17	7577142	7577142	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A4X9-01A-11D-A26M-08	TCGA-DB-A4X9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eea26f3f-6798-4b36-8e5c-a1de8c55f666	59d8d896-b937-4a7b-b503-f112f5570356	g.chr17:7577142C>T	ENST00000420246.2	-	8	928	c.796G>A	c.(796-798)Gga>Aga	p.G266R	TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.G266R|TP53_ENST00000269305.4_Missense_Mutation_p.G266R|TP53_ENST00000455263.2_Missense_Mutation_p.G266R|TP53_ENST00000359597.4_Missense_Mutation_p.G266R	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	266	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		G -> A (in sporadic cancers; somatic mutation).|G -> E (in sporadic cancers; somatic mutation).|G -> R (in sporadic cancers; somatic mutation).|G -> V (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.G266R(46)|p.G266*(14)|p.0?(8)|p.?(3)|p.G262_F270delGNLLGRNSF(2)|p.G262_S269delGNLLGRNS(2)|p.G266fs*79(2)|p.N263fs*5(1)|p.G266T(1)|p.L265_K305del41(1)|p.G266_E271delGRNSFE(1)|p.E258fs*71(1)|p.G266fs*9(1)|p.L265_R267delLGR(1)|p.G266_N268delGRN(1)|p.G262fs*2(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)		CTGTTCCGTCCCAGTAGATTA	0.517		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)			3	0					0	0	1	0	0	T	7577142	C	T	7577142	3	4	31	1	0	0	0	0	1	0	0	0	16442	632	22	2	490	2	TP53	17	7577142	Missense_Mutation	SNP	C	TCGA-DB-A4X9-01A-11D-A26M-08	1	7577142	73618068	24	1365	3	3									
TP53	7157	broad.mit.edu	37	17	7577143	7577143	+	Silent	SNP	C	C	T			TCGA-DB-A4X9-01A-11D-A26M-08	TCGA-DB-A4X9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eea26f3f-6798-4b36-8e5c-a1de8c55f666	59d8d896-b937-4a7b-b503-f112f5570356	g.chr17:7577143C>T	ENST00000420246.2	-	8	927	c.795G>A	c.(793-795)ctG>ctA	p.L265L	TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Silent_p.L265L|TP53_ENST00000269305.4_Silent_p.L265L|TP53_ENST00000455263.2_Silent_p.L265L|TP53_ENST00000359597.4_Silent_p.L265L	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	265	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		L -> M (in sporadic cancers; somatic mutation).|L -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|L -> Q (in sporadic cancers; somatic mutation).|L -> R (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.0?(8)|p.?(3)|p.G262_F270delGNLLGRNSF(2)|p.G262_S269delGNLLGRNS(2)|p.L265L(2)|p.L265P(1)|p.N263fs*5(1)|p.L265_K305del41(1)|p.G266fs*9(1)|p.E258fs*71(1)|p.L265_R267delLGR(1)|p.G262fs*2(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)		TGTTCCGTCCCAGTAGATTAC	0.522		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)			3	0					0	0	1	0	0	T	7577143	C	T	7577143	2	4	31	1	0	0	0	0	0	0	0	1	16442	581	21	2		2	TP53	17	7577143	Silent	SNP	C	TCGA-DB-A4X9-01A-11D-A26M-08	1	7577143	73618067	25	1366	3	3									
KRT34	3885	broad.mit.edu	37	17	39535942	39535942	+	Silent	SNP	G	G	A	rs144246640	byFrequency	TCGA-DB-A4X9-01A-11D-A26M-08	TCGA-DB-A4X9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eea26f3f-6798-4b36-8e5c-a1de8c55f666	59d8d896-b937-4a7b-b503-f112f5570356	g.chr17:39535942G>A	ENST00000394001.1	-	4	786	c.756C>T	c.(754-756)aaC>aaT	p.N252N		NM_021013.3	NP_066293.2	O76011	KRT34_HUMAN	keratin 34	252	Linker 12.|Rod.				epidermis development	intermediate filament	protein binding|structural molecule activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Breast(137;0.000496)				CCACCTCCACGTTGAGGCGGT	0.557													11	16					0	0	1	0	0	A	39535942	G	A	39535942	2	1	31	1	0	0	0	0	0	0	0	1	8514	1136	40	1		1	KRT34	17	39535942	Silent	SNP	G	TCGA-DB-A4X9-01A-11D-A26M-08	31958799	39535942	41659268	26	1367											
NETO1	81832	broad.mit.edu	37	18	70526115	70526116	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DB-A4X9-01A-11D-A26M-08	TCGA-DB-A4X9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eea26f3f-6798-4b36-8e5c-a1de8c55f666	59d8d896-b937-4a7b-b503-f112f5570356	g.chr18:70526115_70526116insA	ENST00000327305.6	-	4	1071_1072	c.414_415insT	c.(412-417)tttgctfs	p.A139fs	NETO1_ENST00000299430.2_Frame_Shift_Ins_p.A138fs|NETO1_ENST00000397929.1_Frame_Shift_Ins_p.A138fs|NETO1_ENST00000583169.1_Frame_Shift_Ins_p.A139fs|NETO1_ENST00000580049.1_5'UTR	NM_138966.3	NP_620416	Q8TDF5	NETO1_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 1	139	CUB 1.				memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity			NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		TCTCCATCAGCAAAAAATTTAA	0.342													14	21	---	---	---	---						A	70526116	-	A	70526115	7	5	31	1	0	1	1	0	0	0	0	0	10386	710	25	0	1223	0	NETO1	18	70526115	Frame_Shift_Ins	INS	-	TCGA-DB-A4X9-01A-11D-A26M-08		70526115	7551133	27	1368											
REXO1	57455	broad.mit.edu	37	19	1828027	1828027	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A4X9-01A-11D-A26M-08	TCGA-DB-A4X9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eea26f3f-6798-4b36-8e5c-a1de8c55f666	59d8d896-b937-4a7b-b503-f112f5570356	g.chr19:1828027C>T	ENST00000170168.4	-	2	855	c.761G>A	c.(760-762)cGg>cAg	p.R254Q	REXO1_ENST00000587524.1_5'UTR	NM_020695.3	NP_065746.3	Q8N1G1	REXO1_HUMAN	REX1, RNA exonuclease 1 homolog (S. cerevisiae)	254						nucleus	exonuclease activity|nucleic acid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	16		Ovarian(11;1.78e-06)|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)		CTTGGCGGCCCGCTCATCCCG	0.652													9	14					0	0	1	0	0	T	1828027	C	T	1828027	3	4	31	1	0	0	0	0	1	0	0	0	13293	652	23	1	2964	1	REXO1	19	1828027	Missense_Mutation	SNP	C	TCGA-DB-A4X9-01A-11D-A26M-08		1828027	57300956	28	1369											
ZNF414	84330	broad.mit.edu	37	19	8576741	8576741	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DB-A4X9-01A-11D-A26M-08	TCGA-DB-A4X9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eea26f3f-6798-4b36-8e5c-a1de8c55f666	59d8d896-b937-4a7b-b503-f112f5570356	g.chr19:8576741delC	ENST00000393927.4	-	5	747	c.634delG	c.(634-636)gccfs	p.A212fs	ZNF414_ENST00000255616.8_Frame_Shift_Del_p.A212fs	NM_001146175.1	NP_001139647.1	Q96IQ9	ZN414_HUMAN	zinc finger protein 414	212					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			lung(2)	2						CGGTCCAGGGCCGGGGGTGGC	0.731													2	4	---	---	---	---						-	8576741	C	-	8576741	7	5	31	1	0	1	0	1	0	0	0	0	17948	739	26	0	568	0	ZNF414	19	8576741	Frame_Shift_Del	DEL	C	TCGA-DB-A4X9-01A-11D-A26M-08	6748714	8576741	50552242	29	1370											
RHPN2	85415	broad.mit.edu	37	19	33535237	33535237	+	Missense_Mutation	SNP	T	T	C			TCGA-DB-A4X9-01A-11D-A26M-08	TCGA-DB-A4X9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eea26f3f-6798-4b36-8e5c-a1de8c55f666	59d8d896-b937-4a7b-b503-f112f5570356	g.chr19:33535237T>C	ENST00000254260.3	-	2	138	c.103A>G	c.(103-105)Aaa>Gaa	p.K35E	RHPN2_ENST00000400226.4_5'UTR	NM_033103.4	NP_149094.3	Q8IUC4	RHPN2_HUMAN	rhophilin, Rho GTPase binding protein 2	35					signal transduction	perinuclear region of cytoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(5)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(3)|urinary_tract(1)	44	Esophageal squamous(110;0.137)					TTCTGCAATTTACTCCGGCCG	0.483													16	25					0	0	1	0	0	C	33535237	T	C	33535237	3	2	31	1	0	0	0	0	1	0	0	0	13401	1763	61	3	2013	3	RHPN2	19	33535237	Missense_Mutation	SNP	T	TCGA-DB-A4X9-01A-11D-A26M-08	24958496	33535237	25593746	30	1371											
FAM9B	171483	broad.mit.edu	37	X	8993591	8993591	+	Missense_Mutation	SNP	C	C	A			TCGA-DB-A4X9-01A-11D-A26M-08	TCGA-DB-A4X9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eea26f3f-6798-4b36-8e5c-a1de8c55f666	59d8d896-b937-4a7b-b503-f112f5570356	g.chrX:8993591C>A	ENST00000362066.3	-	7	834	c.646G>T	c.(646-648)Gtt>Ttt	p.V216F	FAM9B_ENST00000327220.5_Missense_Mutation_p.V176F|FAM9B_ENST00000428477.1_Missense_Mutation_p.V176F			Q8IZU0	FAM9B_HUMAN	family with sequence similarity 9, member B	176						nucleus				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|urinary_tract(1)	11		Hepatocellular(5;0.219)				TCGGAAAAAACTCTGTCACAA	0.328													11	16					5.16669e-11	5.43164e-11	1	1	0	A	8993591	C	A	8993591	3	1	31	1	0	0	0	0	1	0	0	0	5693	565	20	4	38	4	FAM9B	23	8993591	Missense_Mutation	SNP	C	TCGA-DB-A4X9-01A-11D-A26M-08		8993591	146276969	31	1372											
MORC4	79710	broad.mit.edu	37	X	106185949	106185949	+	Silent	SNP	T	T	A			TCGA-DB-A4X9-01A-11D-A26M-08	TCGA-DB-A4X9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eea26f3f-6798-4b36-8e5c-a1de8c55f666	59d8d896-b937-4a7b-b503-f112f5570356	g.chrX:106185949T>A	ENST00000355610.4	-	15	2446	c.2172A>T	c.(2170-2172)gcA>gcT	p.A724A	MORC4_ENST00000255495.7_Silent_p.A724A|MORC4_ENST00000535534.1_Silent_p.A472A	NM_001085354.2|NM_024657.4	NP_001078823.1|NP_078933.3	Q8TE76	MORC4_HUMAN	MORC family CW-type zinc finger 4	724							ATP binding|zinc ion binding			endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	28						AGGATTCAACTGCTTTTCGTC	0.512													41	58					0	0	1	0	0	A	106185949	T	A	106185949	2	1	31	1	0	0	0	0	0	0	0	1	9753	1567	55	5		5	MORC4	23	106185949	Silent	SNP	T	TCGA-DB-A4X9-01A-11D-A26M-08	97192358	106185949	49084611	32	1373											
SASH3	54440	broad.mit.edu	37	X	128926408	128926408	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A4X9-01A-11D-A26M-08	TCGA-DB-A4X9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eea26f3f-6798-4b36-8e5c-a1de8c55f666	59d8d896-b937-4a7b-b503-f112f5570356	g.chrX:128926408G>A	ENST00000356892.3	+	5	661	c.547G>A	c.(547-549)Gac>Aac	p.D183N		NM_018990.3	NP_061863.1	O75995	SASH3_HUMAN	SAM and SH3 domain containing 3	183	SH3.									breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	12						AGTCCACACCGACTTCACTCC	0.622													24	145					0	0	1	0	0	A	128926408	G	A	128926408	3	1	31	1	0	0	0	0	1	0	0	0	13902	1058	37	1	565	1	SASH3	23	128926408	Missense_Mutation	SNP	G	TCGA-DB-A4X9-01A-11D-A26M-08	22740459	128926408	26344152	33	1374											
ARID1A	8289	broad.mit.edu	37	1	27057668	27057668	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A4XA-01A-11D-A26M-08	TCGA-DB-A4XA-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb5e54dc-5a3c-4a34-8f3c-969d03648335	232a02d7-127b-4021-8da7-27e6b63a1a7d	g.chr1:27057668C>T	ENST00000324856.7	+	3	1747	c.1376C>T	c.(1375-1377)cCc>cTc	p.P459L	ARID1A_ENST00000457599.2_Missense_Mutation_p.P459L|ARID1A_ENST00000374152.2_Missense_Mutation_p.P76L	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	459					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CAACAAGGCCCCAGCGGGTAT	0.502			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"								56	49					0	0	1	0	0	T	27057668	C	T	27057668	3	4	32	1	0	0	0	0	1	0	0	0	910	623	22	2	1386	2	ARID1A	1	27057668	Missense_Mutation	SNP	C	TCGA-DB-A4XA-01A-11D-A26M-08		27057668	222192953	1	1375											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-DB-A4XA-01A-11D-A26M-08	TCGA-DB-A4XA-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb5e54dc-5a3c-4a34-8f3c-969d03648335	232a02d7-127b-4021-8da7-27e6b63a1a7d	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	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								12	31					0	0	1	0	0	T	209113112	C	T	209113112	3	4	32	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-DB-A4XA-01A-11D-A26M-08		209113112	34086261	2	1376											
COL6A6	131873	broad.mit.edu	37	3	130287370	130287371	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DB-A4XA-01A-11D-A26M-08	TCGA-DB-A4XA-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb5e54dc-5a3c-4a34-8f3c-969d03648335	232a02d7-127b-4021-8da7-27e6b63a1a7d	g.chr3:130287370_130287371insT	ENST00000358511.6	+	5	2354_2355	c.2323_2324insT	c.(2323-2325)gttfs	p.V775fs	COL6A6_ENST00000453409.2_Frame_Shift_Ins_p.V775fs	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	775	Nonhelical region.|VWFA 4.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						GCCCGAGATGGTTTTTTATGTT	0.47													9	39	---	---	---	---						T	130287371	-	T	130287370	7	5	32	1	0	1	1	0	0	0	0	0	3726	1261	44	0	2341	0	COL6A6	3	130287370	Frame_Shift_Ins	INS	-	TCGA-DB-A4XA-01A-11D-A26M-08		130287370	67735060	3	1377											
ANXA3	306	broad.mit.edu	37	4	79531254	79531254	+	Silent	SNP	T	T	C			TCGA-DB-A4XA-01A-11D-A26M-08	TCGA-DB-A4XA-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb5e54dc-5a3c-4a34-8f3c-969d03648335	232a02d7-127b-4021-8da7-27e6b63a1a7d	g.chr4:79531254T>C	ENST00000264908.6	+	13	1336	c.957T>C	c.(955-957)tgT>tgC	p.C319C	ANXA3_ENST00000512884.1_Silent_p.C280C|ANXA3_ENST00000503570.2_Silent_p.C280C	NM_005139.2	NP_005130.1	P12429	ANXA3_HUMAN	annexin A3	319					defense response to bacterium|neutrophil degranulation|phagocytosis|positive regulation of angiogenesis|positive regulation of endothelial cell migration|positive regulation of sequence-specific DNA binding transcription factor activity	phagocytic vesicle membrane|plasma membrane|specific granule	calcium ion binding|calcium-dependent phospholipid binding|phospholipase A2 inhibitor activity			NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						TAAAAATCTGTGGTGGAGATG	0.378													3	20					0	0	1	0	0	C	79531254	T	C	79531254	2	2	32	1	0	0	0	0	0	0	0	1	713	1702	59	3		3	ANXA3	4	79531254	Silent	SNP	T	TCGA-DB-A4XA-01A-11D-A26M-08		79531254	111623022	4	1378											
OSMR	9180	broad.mit.edu	37	5	38932056	38932056	+	Missense_Mutation	SNP	A	A	G			TCGA-DB-A4XA-01A-11D-A26M-08	TCGA-DB-A4XA-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb5e54dc-5a3c-4a34-8f3c-969d03648335	232a02d7-127b-4021-8da7-27e6b63a1a7d	g.chr5:38932056A>G	ENST00000274276.3	+	16	2686	c.2284A>G	c.(2284-2286)Aaa>Gaa	p.K762E		NM_003999.2	NP_003990.1	Q99650	OSMR_HUMAN	oncostatin M receptor	762					cell proliferation|positive regulation of cell proliferation	oncostatin-M receptor complex	growth factor binding|oncostatin-M receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46	all_lung(31;0.000365)					GTGCTACTTGAAAAGTCAGTG	0.388													4	45					0	0	1	0	0	G	38932056	A	G	38932056	3	3	32	1	0	0	0	0	1	0	0	0	11339	247	9	3	2380	3	OSMR	5	38932056	Missense_Mutation	SNP	A	TCGA-DB-A4XA-01A-11D-A26M-08		38932056	141983204	5	1379											
RNF44	22838	broad.mit.edu	37	5	175957618	175957618	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DB-A4XA-01A-11D-A26M-08	TCGA-DB-A4XA-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb5e54dc-5a3c-4a34-8f3c-969d03648335	232a02d7-127b-4021-8da7-27e6b63a1a7d	g.chr5:175957618delG	ENST00000274811.4	-	6	1290	c.766delC	c.(766-768)cacfs	p.H256fs	RNF44_ENST00000537487.1_Frame_Shift_Del_p.H175fs	NM_014901.4	NP_055716.1	Q7L0R7	RNF44_HUMAN	ring finger protein 44	256	Pro-rich.						zinc ion binding			endometrium(2)|lung(3)|prostate(1)|skin(1)|stomach(1)	8	all_cancers(89;0.0029)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGCGGATCGTGGGGCAGGTAG	0.706													2	4	---	---	---	---						-	175957618	G	-	175957618	7	5	32	1	0	1	0	1	0	0	0	0	13548	1348	47	0	556	0	RNF44	5	175957618	Frame_Shift_Del	DEL	G	TCGA-DB-A4XA-01A-11D-A26M-08	137025562	175957618	4957642	6	1380											
KPNA5	3841	broad.mit.edu	37	6	117053451	117053451	+	Missense_Mutation	SNP	C	C	A			TCGA-DB-A4XA-01A-11D-A26M-08	TCGA-DB-A4XA-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb5e54dc-5a3c-4a34-8f3c-969d03648335	232a02d7-127b-4021-8da7-27e6b63a1a7d	g.chr6:117053451C>A	ENST00000368564.1	+	14	1733	c.1585C>A	c.(1585-1587)Cag>Aag	p.Q529K	KPNA5_ENST00000356348.1_Missense_Mutation_p.Q529K			O15131	IMA5_HUMAN	karyopherin alpha 5 (importin alpha 6)	526					NLS-bearing substrate import into nucleus	cytoplasm|nuclear pore	protein binding|protein transporter activity			breast(6)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0298)|all cancers(137;0.0461)|OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.212)		TATATTTCAGCAGCAGGAAGC	0.393													3	38					1	1	1	1	0	A	117053451	C	A	117053451	3	1	32	1	0	0	0	0	1	0	0	0	8476	711	25	5	1639	5	KPNA5	6	117053451	Missense_Mutation	SNP	C	TCGA-DB-A4XA-01A-11D-A26M-08		117053451	54061616	7	1381											
SYNJ2	8871	broad.mit.edu	37	6	158507947	158507947	+	Missense_Mutation	SNP	G	G	A	rs141300011		TCGA-DB-A4XA-01A-11D-A26M-08	TCGA-DB-A4XA-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb5e54dc-5a3c-4a34-8f3c-969d03648335	232a02d7-127b-4021-8da7-27e6b63a1a7d	g.chr6:158507947G>A	ENST00000355585.4	+	23	3344	c.3269G>A	c.(3268-3270)cGt>cAt	p.R1090H	SYNJ2_ENST00000367112.1_Missense_Mutation_p.R175H|SYNJ2_ENST00000367122.2_Intron|SYNJ2_ENST00000367121.3_Missense_Mutation_p.R1090H	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	1090							nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		TTCCGCCACCGTTCTCCGAGC	0.642													9	34					0	0	1	0	0	A	158507947	G	A	158507947	3	1	32	1	0	0	0	0	1	0	0	0	15510	1145	40	1	3359	1	SYNJ2	6	158507947	Missense_Mutation	SNP	G	TCGA-DB-A4XA-01A-11D-A26M-08	41454496	158507947	12607120	8	1382											
STK31	56164	broad.mit.edu	37	7	23826191	23826191	+	Missense_Mutation	SNP	C	C	A			TCGA-DB-A4XA-01A-11D-A26M-08	TCGA-DB-A4XA-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb5e54dc-5a3c-4a34-8f3c-969d03648335	232a02d7-127b-4021-8da7-27e6b63a1a7d	g.chr7:23826191C>A	ENST00000354639.3	+	19	2734	c.2270C>A	c.(2269-2271)gCt>gAt	p.A757D	STK31_ENST00000355870.3_Missense_Mutation_p.A780D|STK31_ENST00000428484.1_Missense_Mutation_p.A757D|STK31_ENST00000405627.3_3'UTR|STK31_ENST00000433467.2_Missense_Mutation_p.A780D	NM_001260504.1|NM_032944.3	NP_001247433.1|NP_116562.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	780	Protein kinase.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						TACCATAGAGCTTGGAGAGAA	0.423													3	39					0.004672	0.00507826	1	1	0	A	23826191	C	A	23826191	3	1	32	1	0	0	0	0	1	0	0	0	15352	797	28	4	2413	4	STK31	7	23826191	Missense_Mutation	SNP	C	TCGA-DB-A4XA-01A-11D-A26M-08		23826191	135312472	9	1383											
HMX3	340784	broad.mit.edu	37	10	124895618	124895620	+	In_Frame_Del	DEL	CCG	CCG	-			TCGA-DB-A4XA-01A-11D-A26M-08	TCGA-DB-A4XA-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb5e54dc-5a3c-4a34-8f3c-969d03648335	232a02d7-127b-4021-8da7-27e6b63a1a7d	g.chr10:124895618_124895620delCCG	ENST00000357878.5	+	1	141_143	c.52_54delCCG	c.(52-54)ccgdel	p.P24del		NM_001105574.1	NP_001099044.1	A6NHT5	HMX3_HUMAN	H6 family homeobox 3	24	Pro-rich.				cell differentiation	nucleus	sequence-specific DNA binding transcription factor activity			lung(4)	4		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)		Colorectal(40;0.122)|COAD - Colon adenocarcinoma(40;0.141)		ACAGCCCCAACCGCCGCCGCCCC	0.754													2	4	---	---	---	---						-	124895620	CCG	-	124895618	7	5	32	1	0	1	0	1	0	0	0	0	7289	507	18	0	54	0	HMX3	10	124895618	In_Frame_Del	DEL	CCG	TCGA-DB-A4XA-01A-11D-A26M-08		124895618	10639129	10	1384											
DDB2	1643	broad.mit.edu	37	11	47256422	47256422	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A4XA-01A-11D-A26M-08	TCGA-DB-A4XA-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb5e54dc-5a3c-4a34-8f3c-969d03648335	232a02d7-127b-4021-8da7-27e6b63a1a7d	g.chr11:47256422C>T	ENST00000256996.4	+	6	1012	c.817C>T	c.(817-819)Cgc>Tgc	p.R273C	DDB2_ENST00000378603.3_Missense_Mutation_p.R209C|DDB2_ENST00000378601.3_Intron|DDB2_ENST00000378600.3_Intron	NM_000107.2	NP_000098.1	Q92466	DDB2_HUMAN	damage-specific DNA binding protein 2, 48kDa	273			R -> H (in XP-E; impairs interaction with DDB1 and CUL4A).		nucleotide-excision repair, DNA damage removal|protein autoubiquitination|protein polyubiquitination|response to UV	nucleoplasm|protein complex	damaged DNA binding|protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(1)	17						TTGGGACCTGCGCCAGGTTAG	0.537			"Mis, N"			"skin basal cell, skin squamous cell, melanoma"		Direct reversal of damage;Nucleotide excision repair (NER)	Xeroderma Pigmentosum				10	23					0	0	1	0	0	T	47256422	C	T	47256422	3	4	32	1	0	0	0	0	1	0	0	0	4347	768	27	1	839	1	DDB2	11	47256422	Missense_Mutation	SNP	C	TCGA-DB-A4XA-01A-11D-A26M-08		47256422	87750094	11	1385											
KCNJ1	3758	broad.mit.edu	37	11	128709265	128709265	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A4XA-01A-11D-A26M-08	TCGA-DB-A4XA-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb5e54dc-5a3c-4a34-8f3c-969d03648335	232a02d7-127b-4021-8da7-27e6b63a1a7d	g.chr11:128709265G>A	ENST00000392665.2	-	2	1018	c.874C>T	c.(874-876)Cgg>Tgg	p.R292W	KCNJ1_ENST00000392666.1_Missense_Mutation_p.R292W|KCNJ1_ENST00000324036.3_Missense_Mutation_p.R292W|KCNJ1_ENST00000392664.2_Missense_Mutation_p.R311W|KCNJ1_ENST00000440599.2_Missense_Mutation_p.R292W	NM_153764.2	NP_722448.1	P48048	IRK1_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 1	311					excretion	voltage-gated potassium channel complex	ATP binding|inward rectifier potassium channel activity			breast(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)	23	all_hematologic(175;0.0641)	all_lung(97;4.89e-06)|Lung NSC(97;9.34e-06)|Breast(109;0.00123)|all_hematologic(192;0.00793)|Renal(330;0.0112)|all_neural(223;0.0189)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;4.05e-06)|LUSC - Lung squamous cell carcinoma(976;0.008)|Lung(977;0.00942)	Acetohexamide(DB00414)|Chlorpropamide(DB00672)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Glycodiazine(DB01382)|Minoxidil(DB00350)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolazamide(DB00839)|Tolbutamide(DB01124)	TAGGATGTCCGGACTTGGCAG	0.498													4	40					0	0	1	0	0	A	128709265	G	A	128709265	3	1	32	1	0	0	0	0	1	0	0	0	8087	1115	39	1	248	1	KCNJ1	11	128709265	Missense_Mutation	SNP	G	TCGA-DB-A4XA-01A-11D-A26M-08	81452843	128709265	6297251	12	1386											
AGBL1	123624	broad.mit.edu	37	15	87097705	87097705	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DB-A4XA-01A-11D-A26M-08	TCGA-DB-A4XA-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb5e54dc-5a3c-4a34-8f3c-969d03648335	232a02d7-127b-4021-8da7-27e6b63a1a7d	g.chr15:87097705delG	ENST00000441037.2	+	20	2888	c.2793delG	c.(2791-2793)atgfs	p.M931fs	AGBL1_ENST00000389298.3_Frame_Shift_Del_p.M662fs|AGBL1_ENST00000421325.2_Frame_Shift_Del_p.M931fs	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	931					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						GGAGAGAGATGGGGGTGTCCA	0.547													2	4	---	---	---	---						-	87097705	G	-	87097705	7	5	32	1	0	1	0	1	0	0	0	0	372	1348	47	0	2867	0	AGBL1	15	87097705	Frame_Shift_Del	DEL	G	TCGA-DB-A4XA-01A-11D-A26M-08		87097705	15433687	13	1387											
GRIN2A	2903	broad.mit.edu	37	16	9857512	9857512	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A4XA-01A-11D-A26M-08	TCGA-DB-A4XA-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb5e54dc-5a3c-4a34-8f3c-969d03648335	232a02d7-127b-4021-8da7-27e6b63a1a7d	g.chr16:9857512C>T	ENST00000396573.2	-	14	4198	c.3889G>A	c.(3889-3891)Gac>Aac	p.D1297N	GRIN2A_ENST00000404927.2_Intron|GRIN2A_ENST00000330684.3_Missense_Mutation_p.D1297N|GRIN2A_ENST00000535259.1_Intron|GRIN2A_ENST00000562109.1_Intron|GRIN2A_ENST00000396575.2_Missense_Mutation_p.D1297N	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	1297					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	CTAGGTTTGTCGACAATGTTA	0.507													9	58					0	0	1	0	0	T	9857512	C	T	9857512	3	4	32	1	0	0	0	0	1	0	0	0	6820	884	31	1	509	1	GRIN2A	16	9857512	Missense_Mutation	SNP	C	TCGA-DB-A4XA-01A-11D-A26M-08		9857512	80497241	14	1388											
EFCAB3	146779	broad.mit.edu	37	17	60484520	60484520	+	Missense_Mutation	SNP	C	C	T	rs115042128	byFrequency	TCGA-DB-A4XA-01A-11D-A26M-08	TCGA-DB-A4XA-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb5e54dc-5a3c-4a34-8f3c-969d03648335	232a02d7-127b-4021-8da7-27e6b63a1a7d	g.chr17:60484520C>T	ENST00000450662.2	+	10	1041	c.970C>T	c.(970-972)Cct>Tct	p.P324S	EFCAB3_ENST00000305286.3_Missense_Mutation_p.P272S	NM_001144933.1	NP_001138405.1	Q8N7B9	EFCB3_HUMAN	EF-hand calcium binding domain 3	272							calcium ion binding			cervix(1)|endometrium(2)|large_intestine(5)|lung(6)|skin(3)	17			BRCA - Breast invasive adenocarcinoma(2;2.27e-11)			AATAAAGGAGCCTTTGCATTT	0.348													9	37					0	0	1	0	0	T	60484520	C	T	60484520	3	4	32	1	0	0	0	0	1	0	0	0	4961	739	26	2	1008	2	EFCAB3	17	60484520	Missense_Mutation	SNP	C	TCGA-DB-A4XA-01A-11D-A26M-08		60484520	20710690	15	1389											
AATK	9625	broad.mit.edu	37	17	79094025	79094025	+	Silent	SNP	G	G	A			TCGA-DB-A4XA-01A-11D-A26M-08	TCGA-DB-A4XA-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb5e54dc-5a3c-4a34-8f3c-969d03648335	232a02d7-127b-4021-8da7-27e6b63a1a7d	g.chr17:79094025G>A	ENST00000326724.4	-	11	3735	c.3711C>T	c.(3709-3711)gaC>gaT	p.D1237D	AATK_ENST00000417379.1_Silent_p.D1134D	NM_001080395.2	NP_001073864.2	Q6ZMQ8	LMTK1_HUMAN	apoptosis-associated tyrosine kinase	1237						integral to membrane|mitochondrion|perinuclear region of cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			endometrium(2)|kidney(2)|lung(8)|ovary(3)|prostate(1)|stomach(4)|upper_aerodigestive_tract(1)	21	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			AGACGGTGACGTCGTCGAAGA	0.697													16	36					0	0	1	0	0	A	79094025	G	A	79094025	2	1	32	1	0	0	0	0	0	0	0	1	26	1136	40	1		1	AATK	17	79094025	Silent	SNP	G	TCGA-DB-A4XA-01A-11D-A26M-08	18609505	79094025	2101185	16	1390											
MUC16	94025	broad.mit.edu	37	19	9082732	9082732	+	Missense_Mutation	SNP	C	C	A	rs139519759	by1000genomes	TCGA-DB-A4XA-01A-11D-A26M-08	TCGA-DB-A4XA-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb5e54dc-5a3c-4a34-8f3c-969d03648335	232a02d7-127b-4021-8da7-27e6b63a1a7d	g.chr19:9082732C>A	ENST00000397910.4	-	1	9286	c.9083G>T	c.(9082-9084)aGt>aTt	p.S3028I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3029	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGGAGAGGAACTAGAACCAGA	0.488													22	30					5.26018e-13	6.26212e-13	1	1	0	A	9082732	C	A	9082732	3	1	32	1	0	0	0	0	1	0	0	0	10021	565	20	4	34776	4	MUC16	19	9082732	Missense_Mutation	SNP	C	TCGA-DB-A4XA-01A-11D-A26M-08		9082732	50046251	17	1391											
CIC	23152	broad.mit.edu	37	19	42791822	42791824	+	In_Frame_Del	DEL	GTG	GTG	-			TCGA-DB-A4XA-01A-11D-A26M-08	TCGA-DB-A4XA-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb5e54dc-5a3c-4a34-8f3c-969d03648335	232a02d7-127b-4021-8da7-27e6b63a1a7d	g.chr19:42791822_42791824delGTG	ENST00000572681.2	+	6	3503_3505	c.3435_3437delGTG	c.(3433-3438)gagtgg>gag	p.W1147del	CIC_ENST00000575354.2_In_Frame_Del_p.W238del|CIC_ENST00000160740.3_In_Frame_Del_p.W238del			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	238	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				TCCTGGGCGAGTGGTGGTATGCC	0.611			"Mis, F, S"		oligodendroglioma								12	47	---	---	---	---						-	42791824	GTG	-	42791822	7	5	32	1	0	1	0	1	0	0	0	0	3446	1020	36	0	726	0	CIC	19	42791822	In_Frame_Del	DEL	GTG	TCGA-DB-A4XA-01A-11D-A26M-08	33709090	42791822	16337161	18	1392											
CSMD2	114784	broad.mit.edu	37	1	34034977	34034977	+	Missense_Mutation	SNP	G	G	A	rs143459383		TCGA-DB-A4XB-01A-11D-A26M-08	TCGA-DB-A4XB-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aaf7e22-1669-4db1-b137-944ff01ddbdc	456815aa-07ae-46de-bf95-78b15569f6b1	g.chr1:34034977G>A	ENST00000373381.4	-	52	8304	c.8128C>T	c.(8128-8130)Ctt>Ttt	p.L2710F		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2712	Sushi 17.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CACTTACCAAGGCAGCGGACT	0.502													17	36					0	0	1	0	0	A	34034977	G	A	34034977	3	1	33	1	0	0	0	0	1	0	0	0	3970	1000	35	2	2397	2	CSMD2	1	34034977	Missense_Mutation	SNP	G	TCGA-DB-A4XB-01A-11D-A26M-08		34034977	215215644	1	1393											
OR2M3	127062	broad.mit.edu	37	1	248366912	248366912	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DB-A4XB-01A-11D-A26M-08	TCGA-DB-A4XB-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aaf7e22-1669-4db1-b137-944ff01ddbdc	456815aa-07ae-46de-bf95-78b15569f6b1	g.chr1:248366912delC	ENST00000456743.1	+	1	581	c.543delC	c.(541-543)ttcfs	p.F181fs		NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M, member 3	181					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			TCTGTGACTTCCCCTCCCTAC	0.423													42	144	---	---	---	---						-	248366912	C	-	248366912	7	5	33	1	0	1	0	1	0	0	0	0	11059	854	30	0	545	0	OR2M3	1	248366912	Frame_Shift_Del	DEL	C	TCGA-DB-A4XB-01A-11D-A26M-08	214331935	248366912	883709	2	1394											
HADHA	3030	broad.mit.edu	37	2	26437420	26437420	+	Silent	SNP	C	C	T			TCGA-DB-A4XB-01A-11D-A26M-08	TCGA-DB-A4XB-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aaf7e22-1669-4db1-b137-944ff01ddbdc	456815aa-07ae-46de-bf95-78b15569f6b1	g.chr2:26437420C>T	ENST00000380649.3	-	9	939	c.810G>A	c.(808-810)gcG>gcA	p.A270A	HADHA_ENST00000457468.2_Silent_p.A183A	NM_000182.4	NP_000173.2	P40939	ECHA_HUMAN	hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit	270					fatty acid beta-oxidation	fatty acid beta-oxidation multienzyme complex|mitochondrial nucleoid|nucleolus	3-hydroxyacyl-CoA dehydrogenase activity|acetyl-CoA C-acetyltransferase activity|coenzyme binding|enoyl-CoA hydratase activity|long-chain-3-hydroxyacyl-CoA dehydrogenase activity|protein binding			autonomic_ganglia(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(4)|skin(1)	30	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				NADH(DB00157)	TCATGGCATACGCTGTCAATT	0.338													5	10					0	0	1	0	0	T	26437420	C	T	26437420	2	4	33	1	0	0	0	0	0	0	0	1	6984	523	19	1		1	HADHA	2	26437420	Silent	SNP	C	TCGA-DB-A4XB-01A-11D-A26M-08		26437420	216761953	3	1395											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-DB-A4XB-01A-11D-A26M-08	TCGA-DB-A4XB-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aaf7e22-1669-4db1-b137-944ff01ddbdc	456815aa-07ae-46de-bf95-78b15569f6b1	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								8	17					0	0	1	0	0	T	209113112	C	T	209113112	3	4	33	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-DB-A4XB-01A-11D-A26M-08	182675692	209113112	34086261	4	1396											
SLC19A3	80704	broad.mit.edu	37	2	228563995	228563995	+	Missense_Mutation	SNP	C	C	T	rs147502239	byFrequency	TCGA-DB-A4XB-01A-11D-A26M-08	TCGA-DB-A4XB-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aaf7e22-1669-4db1-b137-944ff01ddbdc	456815aa-07ae-46de-bf95-78b15569f6b1	g.chr2:228563995C>T	ENST00000258403.3	-	3	507	c.436G>A	c.(436-438)Gtc>Atc	p.V146I	SLC19A3_ENST00000541617.1_Missense_Mutation_p.V142I|SLC19A3_ENST00000409287.1_Intron	NM_025243.3	NP_079519.1	Q9BZV2	S19A3_HUMAN	solute carrier family 19 (thiamine transporter), member 3	146					thiamine-containing compound metabolic process	integral to membrane|plasma membrane	folic acid binding|reduced folate carrier activity|thiamine uptake transmembrane transporter activity			breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|skin(3)	30		Renal(207;0.0112)|all_lung(227;0.0335)|Lung NSC(271;0.142)|all_hematologic(139;0.21)|Esophageal squamous(248;0.236)		Epithelial(121;1.58e-10)|all cancers(144;8.55e-08)|Lung(261;0.00948)|LUSC - Lung squamous cell carcinoma(224;0.0125)	L-Cysteine(DB00151)	GCCAGCGTGACGCTCCTGCAG	0.592													57	86					0	0	1	0	0	T	228563995	C	T	228563995	3	4	33	1	0	0	0	0	1	0	0	0	14485	536	19	1	1070	1	SLC19A3	2	228563995	Missense_Mutation	SNP	C	TCGA-DB-A4XB-01A-11D-A26M-08	19450883	228563995	14635378	5	1397											
SCLY	51540	broad.mit.edu	37	2	239002577	239002577	+	Missense_Mutation	SNP	A	A	G			TCGA-DB-A4XB-01A-11D-A26M-08	TCGA-DB-A4XB-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aaf7e22-1669-4db1-b137-944ff01ddbdc	456815aa-07ae-46de-bf95-78b15569f6b1	g.chr2:239002577A>G	ENST00000254663.6	+	9	1163	c.1021A>G	c.(1021-1023)Agg>Ggg	p.R341G	SCLY_ENST00000429612.2_Missense_Mutation_p.R127G|SCLY_ENST00000422984.2_Missense_Mutation_p.R239G|SCLY_ENST00000555827.1_Missense_Mutation_p.R333G	NM_016510.5	NP_057594.4	Q96I15	SCLY_HUMAN	selenocysteine lyase	333					cellular amino acid metabolic process	cytosol	pyridoxal phosphate binding|selenocysteine lyase activity|transferase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1)	22		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;1.37e-23)|OV - Ovarian serous cystadenocarcinoma(60;4.6e-12)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;8.25e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000128)|Lung(119;0.0118)|LUSC - Lung squamous cell carcinoma(224;0.0285)		CCTGGAAGAGAGGCTGGAAGT	0.672													11	10					0	0	1	0	0	G	239002577	A	G	239002577	3	3	33	1	0	0	0	0	1	0	0	0	13961	295	11	3	1031	3	SCLY	2	239002577	Missense_Mutation	SNP	A	TCGA-DB-A4XB-01A-11D-A26M-08	10438582	239002577	4196796	6	1398											
CNTN4	152330	broad.mit.edu	37	3	2924865	2924865	+	Missense_Mutation	SNP	A	A	G			TCGA-DB-A4XB-01A-11D-A26M-08	TCGA-DB-A4XB-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aaf7e22-1669-4db1-b137-944ff01ddbdc	456815aa-07ae-46de-bf95-78b15569f6b1	g.chr3:2924865A>G	ENST00000397461.1	+	8	1073	c.689A>G	c.(688-690)cAg>cGg	p.Q230R	CNTN4_ENST00000418658.1_Missense_Mutation_p.Q230R|CNTN4_ENST00000358480.3_Missense_Mutation_p.Q11R|CNTN4_ENST00000427331.1_Missense_Mutation_p.Q230R	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	230	Ig-like C2-type 3.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		ATAGAAGTGCAGTTCCCAGAA	0.408													13	17					0	0	1	0	0	G	2924865	A	G	2924865	3	3	33	1	0	0	0	0	1	0	0	0	3666	188	7	3	711	3	CNTN4	3	2924865	Missense_Mutation	SNP	A	TCGA-DB-A4XB-01A-11D-A26M-08		2924865	195097565	7	1399											
ECT2	1894	broad.mit.edu	37	3	172472415	172472415	+	Missense_Mutation	SNP	A	A	T			TCGA-DB-A4XB-01A-11D-A26M-08	TCGA-DB-A4XB-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aaf7e22-1669-4db1-b137-944ff01ddbdc	456815aa-07ae-46de-bf95-78b15569f6b1	g.chr3:172472415A>T	ENST00000417960.1	+	3	572	c.95A>T	c.(94-96)gAa>gTa	p.E32V	ECT2_ENST00000441497.2_Missense_Mutation_p.E32V|ECT2_ENST00000232458.5_Missense_Mutation_p.E32V|ECT2_ENST00000540509.1_Missense_Mutation_p.E32V|ECT2_ENST00000427830.1_Missense_Mutation_p.E32V|ECT2_ENST00000392692.3_Missense_Mutation_p.E32V	NM_001258316.1	NP_001245245.1	Q9H8V3	ECT2_HUMAN	epithelial cell transforming sequence 2 oncogene	32					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity|signal transducer activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)			ATTTCCAAGGAAAACTTACTT	0.323													3	11					0	0	1	0	0	T	172472415	A	T	172472415	3	4	33	1	0	0	0	0	1	0	0	0	4927	246	9	5	97	5	ECT2	3	172472415	Missense_Mutation	SNP	A	TCGA-DB-A4XB-01A-11D-A26M-08	169547550	172472415	25550015	8	1400											
SDHA	6389	broad.mit.edu	37	5	218471	218471	+	Translation_Start_Site	SNP	A	A	G	rs1061517		TCGA-DB-A4XB-01A-11D-A26M-08	TCGA-DB-A4XB-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aaf7e22-1669-4db1-b137-944ff01ddbdc	456815aa-07ae-46de-bf95-78b15569f6b1	g.chr5:218471A>G	ENST00000264932.6	+	1	116	c.1A>G	c.(1-3)Atg>Gtg	p.M1V	SDHA_ENST00000510361.1_Start_Codon_SNP_p.M1V|SDHA_ENST00000504309.1_Start_Codon_SNP_p.M1V	NM_004168.2	NP_004159.2	P31040	DHSA_HUMAN	succinate dehydrogenase complex, subunit A, flavoprotein (Fp)	1					nervous system development|respiratory electron transport chain|succinate metabolic process|transport|tricarboxylic acid cycle	mitochondrial respiratory chain complex II	electron carrier activity|flavin adenine dinucleotide binding|protein binding|succinate dehydrogenase (ubiquinone) activity			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|liver(2)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	40			Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		Succinic acid(DB00139)	AACAGCAGACATGTCGGGGGT	0.776									Familial Paragangliomas				10	16					0	0	1	0	0	G	218471	A	G	218471	1	3	33	1	0	0	0	0	0	0	0	0	14017	217	8	3		3	SDHA	5	218471	Translation_Start_Site	SNP	A	TCGA-DB-A4XB-01A-11D-A26M-08		218471	180696789	9	1401											
LIFR	3977	broad.mit.edu	37	5	38523540	38523540	+	Missense_Mutation	SNP	C	C	G			TCGA-DB-A4XB-01A-11D-A26M-08	TCGA-DB-A4XB-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aaf7e22-1669-4db1-b137-944ff01ddbdc	456815aa-07ae-46de-bf95-78b15569f6b1	g.chr5:38523540C>G	ENST00000263409.4	-	5	704	c.542G>C	c.(541-543)aGt>aCt	p.S181T	LIFR_ENST00000453190.2_Missense_Mutation_p.S181T|LIFR_ENST00000503088.1_5'UTR	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor alpha	181					positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity	p.S181T(2)		NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					GAGCTCCATACTCTCTTTACG	0.343			T	PLAG1	salivary adenoma								15	31					0	0	1	0	0	G	38523540	C	G	38523540	3	3	33	1	0	0	0	0	1	0	0	0	8820	565	20	4	2815	4	LIFR	5	38523540	Missense_Mutation	SNP	C	TCGA-DB-A4XB-01A-11D-A26M-08	38305069	38523540	142391720	10	1402											
HDGFL1	154150	broad.mit.edu	37	6	22570347	22570349	+	In_Frame_Del	DEL	GGC	GGC	-			TCGA-DB-A4XB-01A-11D-A26M-08	TCGA-DB-A4XB-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aaf7e22-1669-4db1-b137-944ff01ddbdc	456815aa-07ae-46de-bf95-78b15569f6b1	g.chr6:22570347_22570349delGGC	ENST00000510882.2	+	1	553_555	c.543_545delGGC	c.(541-546)agggcg>agg	p.A188del	HDGFL1_ENST00000230012.3_In_Frame_Del_p.A188del			Q5TGJ6	HDGL1_HUMAN	hepatoma derived growth factor-like 1	188	Ala-rich.|Glu-rich.									kidney(1)|large_intestine(3)|lung(7)	11	Ovarian(93;0.163)					aagcggagagggcggcggcggcg	0.768													3	5	---	---	---	---						-	22570349	GGC	-	22570347	7	5	33	1	0	1	0	1	0	0	0	0	7060	1223	43	0	545	0	HDGFL1	6	22570347	In_Frame_Del	DEL	GGC	TCGA-DB-A4XB-01A-11D-A26M-08		22570347	148544720	11	1403											
ANKS1A	23294	broad.mit.edu	37	6	35048910	35048910	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A4XB-01A-11D-A26M-08	TCGA-DB-A4XB-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aaf7e22-1669-4db1-b137-944ff01ddbdc	456815aa-07ae-46de-bf95-78b15569f6b1	g.chr6:35048910C>T	ENST00000360359.3	+	17	2822	c.2684C>T	c.(2683-2685)tCc>tTc	p.S895F	ANKS1A_ENST00000535627.1_Intron	NM_015245.2	NP_056060.2	Q92625	ANS1A_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1A	895						cytoplasm	protein binding			cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						GCGGCACCCTCCCGAGCGGAG	0.657													11	26					0	0	1	0	0	T	35048910	C	T	35048910	3	4	33	1	0	0	0	0	1	0	0	0	682	855	30	2	2750	2	ANKS1A	6	35048910	Missense_Mutation	SNP	C	TCGA-DB-A4XB-01A-11D-A26M-08	12478563	35048910	136066157	12	1404											
RAB23	51715	broad.mit.edu	37	6	57058690	57058690	+	Missense_Mutation	SNP	T	T	A			TCGA-DB-A4XB-01A-11D-A26M-08	TCGA-DB-A4XB-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aaf7e22-1669-4db1-b137-944ff01ddbdc	456815aa-07ae-46de-bf95-78b15569f6b1	g.chr6:57058690T>A	ENST00000317483.3	-	6	1143	c.524A>T	c.(523-525)cAa>cTa	p.Q175L	RAB23_ENST00000468148.1_Missense_Mutation_p.Q175L	NM_016277.3	NP_057361.3	Q9ULC3	RAB23_HUMAN	RAB23, member RAS oncogene family	175					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding			kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	8	Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			AGCTATTTGTTGTTTGAGTTT	0.318													9	5					0	0	1	0	0	A	57058690	T	A	57058690	3	1	33	1	0	0	0	0	1	0	0	0	12962	1812	63	5	197	5	RAB23	6	57058690	Missense_Mutation	SNP	T	TCGA-DB-A4XB-01A-11D-A26M-08	22009780	57058690	114056377	13	1405											
KIAA1009	22832	broad.mit.edu	37	6	84913701	84913701	+	Missense_Mutation	SNP	G	G	C			TCGA-DB-A4XB-01A-11D-A26M-08	TCGA-DB-A4XB-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aaf7e22-1669-4db1-b137-944ff01ddbdc	456815aa-07ae-46de-bf95-78b15569f6b1	g.chr6:84913701G>C	ENST00000403245.3	-	7	799	c.685C>G	c.(685-687)Cag>Gag	p.Q229E	KIAA1009_ENST00000257766.4_Missense_Mutation_p.Q153E	NM_014895.2	NP_055710.2	Q5TB80	QN1_HUMAN	KIAA1009	229					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)		ATATATACCTGTTTGGGCACA	0.343													3	16					0	0	1	0	0	C	84913701	G	C	84913701	3	2	33	1	0	0	0	0	1	0	0	0	8245	1386	48	5	3610	5	KIAA1009	6	84913701	Missense_Mutation	SNP	G	TCGA-DB-A4XB-01A-11D-A26M-08	27855011	84913701	86201366	14	1406											
PLG	5340	broad.mit.edu	37	6	161173247	161173247	+	Silent	SNP	C	C	T			TCGA-DB-A4XB-01A-11D-A26M-08	TCGA-DB-A4XB-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aaf7e22-1669-4db1-b137-944ff01ddbdc	456815aa-07ae-46de-bf95-78b15569f6b1	g.chr6:161173247C>T	ENST00000308192.9	+	18	2289	c.2226C>T	c.(2224-2226)acC>acT	p.T742T		NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	742	Peptidase S1.				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	TCCAATCCACCGAACTCTGTG	0.488													21	28					0	0	1	0	0	T	161173247	C	T	161173247	2	4	33	1	0	0	0	0	0	0	0	1	12134	639	23	1		1	PLG	6	161173247	Silent	SNP	C	TCGA-DB-A4XB-01A-11D-A26M-08	76259546	161173247	9941820	15	1407											
TRRAP	8295	broad.mit.edu	37	7	98497374	98497374	+	Missense_Mutation	SNP	G	G	T			TCGA-DB-A4XB-01A-11D-A26M-08	TCGA-DB-A4XB-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aaf7e22-1669-4db1-b137-944ff01ddbdc	456815aa-07ae-46de-bf95-78b15569f6b1	g.chr7:98497374G>T	ENST00000359863.4	+	10	993	c.784G>T	c.(784-786)Gtg>Ttg	p.V262L	TRRAP_ENST00000446306.3_Missense_Mutation_p.V262L|TRRAP_ENST00000355540.3_Missense_Mutation_p.V262L	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	262					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TGCCATTCAGGTGTCTGCACA	0.438													11	23					6.81908e-15	7.51847e-15	1	1	0	T	98497374	G	T	98497374	3	4	33	1	0	0	0	0	1	0	0	0	16662	1261	44	5	818	5	TRRAP	7	98497374	Missense_Mutation	SNP	G	TCGA-DB-A4XB-01A-11D-A26M-08		98497374	60641289	16	1408											
FLNC	2318	broad.mit.edu	37	7	128482972	128482972	+	Silent	SNP	G	G	A			TCGA-DB-A4XB-01A-11D-A26M-08	TCGA-DB-A4XB-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aaf7e22-1669-4db1-b137-944ff01ddbdc	456815aa-07ae-46de-bf95-78b15569f6b1	g.chr7:128482972G>A	ENST00000325888.8	+	16	2775	c.2514G>A	c.(2512-2514)gcG>gcA	p.A838A	FLNC_ENST00000346177.6_Silent_p.A838A	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	838					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						CACCAGGGGCGGGCCGCTACA	0.592													18	29					0	0	1	0	0	A	128482972	G	A	128482972	2	1	33	1	0	0	0	0	0	0	0	1	5968	1103	39	1		1	FLNC	7	128482972	Silent	SNP	G	TCGA-DB-A4XB-01A-11D-A26M-08	29985598	128482972	30655691	17	1409											
PTPRD	5789	broad.mit.edu	37	9	8633423	8633423	+	Silent	SNP	G	G	A			TCGA-DB-A4XB-01A-11D-A26M-08	TCGA-DB-A4XB-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aaf7e22-1669-4db1-b137-944ff01ddbdc	456815aa-07ae-46de-bf95-78b15569f6b1	g.chr9:8633423G>A	ENST00000381196.4	-	11	789	c.246C>T	c.(244-246)ctC>ctT	p.L82L	PTPRD_ENST00000360074.4_Silent_p.L82L|PTPRD_ENST00000537002.1_Silent_p.L82L|PTPRD_ENST00000486161.1_Silent_p.L82L|PTPRD_ENST00000397606.3_Silent_p.L82L|PTPRD_ENST00000356435.5_Silent_p.L82L|PTPRD_ENST00000540109.1_Silent_p.L82L|PTPRD_ENST00000358503.5_Silent_p.L82L|PTPRD_ENST00000397611.3_Silent_p.L82L|PTPRD_ENST00000397617.3_Silent_p.L82L|PTPRD_ENST00000463477.1_Silent_p.L82L|PTPRD_ENST00000355233.5_Silent_p.L82L	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	82	Ig-like C2-type 1.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		GTTGTATTCTGAGAACTGATC	0.428										TSP Lung(15;0.13)			20	13					0	0	1	0	0	A	8633423	G	A	8633423	2	1	33	1	0	0	0	0	0	0	0	1	12851	1277	45	2		2	PTPRD	9	8633423	Silent	SNP	G	TCGA-DB-A4XB-01A-11D-A26M-08		8633423	132580008	18	1410											
KIF24	347240	broad.mit.edu	37	9	34256165	34256165	+	Missense_Mutation	SNP	T	T	C	rs36062910		TCGA-DB-A4XB-01A-11D-A26M-08	TCGA-DB-A4XB-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aaf7e22-1669-4db1-b137-944ff01ddbdc	456815aa-07ae-46de-bf95-78b15569f6b1	g.chr9:34256165T>C	ENST00000379166.2	-	11	3559	c.3440A>G	c.(3439-3441)gAg>gGg	p.E1147G	KIF24_ENST00000402558.2_Missense_Mutation_p.E1147G|KIF24_ENST00000379174.3_Missense_Mutation_p.E1013G|KIF24_ENST00000345050.2_Missense_Mutation_p.E1013G	NM_194313.2	NP_919289.2	Q5T7B8	KIF24_HUMAN	kinesin family member 24	1147					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(13)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	32			LUSC - Lung squamous cell carcinoma(29;0.0107)			TAGGTCTGCCTCCCTGCTGGG	0.572													15	23					0	0	1	0	0	C	34256165	T	C	34256165	3	2	33	1	0	0	0	0	1	0	0	0	8334	1551	54	3	678	3	KIF24	9	34256165	Missense_Mutation	SNP	T	TCGA-DB-A4XB-01A-11D-A26M-08	25622742	34256165	106957266	19	1411											
TPM2	7169	broad.mit.edu	37	9	35685321	35685321	+	Missense_Mutation	SNP	C	C	A			TCGA-DB-A4XB-01A-11D-A26M-08	TCGA-DB-A4XB-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aaf7e22-1669-4db1-b137-944ff01ddbdc	456815aa-07ae-46de-bf95-78b15569f6b1	g.chr9:35685321C>A	ENST00000378292.3	-	5	1710	c.508G>T	c.(508-510)Gtg>Ttg	p.V170L	TPM2_ENST00000360958.2_Missense_Mutation_p.V170L|TPM2_ENST00000329305.2_Missense_Mutation_p.V170L|TPM2_ENST00000378300.5_Missense_Mutation_p.V170L	NM_213674.1	NP_998839.1	P07951	TPM2_HUMAN	tropomyosin 2 (beta)	170					muscle filament sliding|regulation of ATPase activity	cytosol|muscle thin filament tropomyosin	actin binding|structural constituent of muscle			NS(1)|breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_epithelial(49;0.121)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			TCCAGGATCACCAGCTTCCTG	0.627													11	26					5.50884e-06	5.50884e-06	1	1	0	A	35685321	C	A	35685321	3	1	33	1	0	0	0	0	1	0	0	0	16467	507	18	5	533	5	TPM2	9	35685321	Missense_Mutation	SNP	C	TCGA-DB-A4XB-01A-11D-A26M-08	1429156	35685321	105528110	20	1412											
HKDC1	80201	broad.mit.edu	37	10	71010063	71010063	+	Missense_Mutation	SNP	G	G	A	rs148336562	by1000genomes	TCGA-DB-A4XB-01A-11D-A26M-08	TCGA-DB-A4XB-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aaf7e22-1669-4db1-b137-944ff01ddbdc	456815aa-07ae-46de-bf95-78b15569f6b1	g.chr10:71010063G>A	ENST00000354624.5	+	11	1721	c.1588G>A	c.(1588-1590)Gcc>Acc	p.A530T	HKDC1_ENST00000395086.2_Missense_Mutation_p.A530T	NM_025130.3	NP_079406	Q2TB90	HKDC1_HUMAN	hexokinase domain containing 1	530					glycolysis	mitochondrion|nucleus	ATP binding|hexokinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						AAAGTTTCTCGCCCTGGATCT	0.547													20	180					0	0	1	0	0	A	71010063	G	A	71010063	3	1	33	1	0	0	0	0	1	0	0	0	7234	1087	38	1	1630	1	HKDC1	10	71010063	Missense_Mutation	SNP	G	TCGA-DB-A4XB-01A-11D-A26M-08		71010063	64524684	21	1413											
OR8J3	81168	broad.mit.edu	37	11	55904857	55904857	+	Missense_Mutation	SNP	A	A	G			TCGA-DB-A4XB-01A-11D-A26M-08	TCGA-DB-A4XB-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aaf7e22-1669-4db1-b137-944ff01ddbdc	456815aa-07ae-46de-bf95-78b15569f6b1	g.chr11:55904857A>G	ENST00000301529.1	-	1	337	c.338T>C	c.(337-339)aTg>aCg	p.M113T		NM_001004064.1	NP_001004064.1	Q8NGG0	OR8J3_HUMAN	olfactory receptor, family 8, subfamily J, member 3	113					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	59	Esophageal squamous(21;0.00693)					AGCCAGCATCATTACCTCCGA	0.478													11	79					0	0	1	0	0	G	55904857	A	G	55904857	3	3	33	1	0	0	0	0	1	0	0	0	11289	217	8	3	611	3	OR8J3	11	55904857	Missense_Mutation	SNP	A	TCGA-DB-A4XB-01A-11D-A26M-08		55904857	79101659	22	1414											
FTH1	2495	broad.mit.edu	37	11	61732945	61732945	+	Missense_Mutation	SNP	C	C	G			TCGA-DB-A4XB-01A-11D-A26M-08	TCGA-DB-A4XB-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aaf7e22-1669-4db1-b137-944ff01ddbdc	456815aa-07ae-46de-bf95-78b15569f6b1	g.chr11:61732945C>G	ENST00000273550.7	-	2	391	c.157G>C	c.(157-159)Gcc>Ccc	p.A53P	FTH1_ENST00000532601.1_5'UTR|BEST1_ENST00000449131.2_3'UTR|FTH1_ENST00000529191.1_Intron|FTH1_ENST00000526640.1_Missense_Mutation_p.A23P|FTH1_ENST00000529631.1_Intron	NM_002032.2	NP_002023.2	P02794	FRIH_HUMAN	ferritin, heavy polypeptide 1	53	Ferritin-like diiron.				cell proliferation|cellular membrane organization|immune response|intracellular sequestering of iron ion|iron ion transport|negative regulation of cell proliferation|post-Golgi vesicle-mediated transport	cytosol|intracellular ferritin complex	ferric iron binding|ferroxidase activity|protein binding			NS(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8					Iron Dextran(DB00893)	AAGTATTTGGCAAAGTTCTTC	0.458													29	29					0	0	1	0	0	G	61732945	C	G	61732945	3	3	33	1	0	0	0	0	1	0	0	0	6117	710	25	5	406	5	FTH1	11	61732945	Missense_Mutation	SNP	C	TCGA-DB-A4XB-01A-11D-A26M-08	5828088	61732945	73273571	23	1415											
PTPRCAP	5790	broad.mit.edu	37	11	67203469	67203469	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A4XB-01A-11D-A26M-08	TCGA-DB-A4XB-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aaf7e22-1669-4db1-b137-944ff01ddbdc	456815aa-07ae-46de-bf95-78b15569f6b1	g.chr11:67203469G>A	ENST00000326294.3	-	2	803	c.356C>T	c.(355-357)gCg>gTg	p.A119V		NM_005608.2	NP_005599.1	Q14761	PTCA_HUMAN	protein tyrosine phosphatase, receptor type, C-associated protein	119					defense response	integral to membrane|plasma membrane				skin(1)|upper_aerodigestive_tract(1)	2			BRCA - Breast invasive adenocarcinoma(15;3.26e-06)			GCCACCATCCGCGACGTGGTC	0.657													10	44					0	0	1	0	0	A	67203469	G	A	67203469	3	1	33	1	0	0	0	0	1	0	0	0	12850	1087	38	1	268	1	PTPRCAP	11	67203469	Missense_Mutation	SNP	G	TCGA-DB-A4XB-01A-11D-A26M-08	5470524	67203469	67803047	24	1416											
AEBP2	121536	broad.mit.edu	37	12	19592913	19592913	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DB-A4XB-01A-11D-A26M-08	TCGA-DB-A4XB-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aaf7e22-1669-4db1-b137-944ff01ddbdc	456815aa-07ae-46de-bf95-78b15569f6b1	g.chr12:19592913delG	ENST00000266508.9	+	1	281	c.280delG	c.(280-282)gggfs	p.G94fs	AEBP2_ENST00000541908.1_Intron|AEBP2_ENST00000398864.3_Frame_Shift_Del_p.G94fs	NM_153207.4	NP_694939.2	Q6ZN18	AEBP2_HUMAN	AE binding protein 2	94	Glu-rich.|Gly-rich.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	DNA binding|zinc ion binding			ovary(1)	1	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)|Esophageal squamous(101;0.143)					CAGCCAGGCCGGggaggacga	0.741													2	4	---	---	---	---						-	19592913	G	-	19592913	7	5	33	1	0	1	0	1	0	0	0	0	349	1116	39	0	282	0	AEBP2	12	19592913	Frame_Shift_Del	DEL	G	TCGA-DB-A4XB-01A-11D-A26M-08		19592913	114258982	25	1417											
NOS1	4842	broad.mit.edu	37	12	117768538	117768538	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A4XB-01A-11D-A26M-08	TCGA-DB-A4XB-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aaf7e22-1669-4db1-b137-944ff01ddbdc	456815aa-07ae-46de-bf95-78b15569f6b1	g.chr12:117768538C>T	ENST00000317775.6	-	2	1022	c.337G>A	c.(337-339)Ggt>Agt	p.G113S	NOS1_ENST00000338101.4_Missense_Mutation_p.G113S|NOS1_ENST00000344089.3_Missense_Mutation_p.G113S	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN	nitric oxide synthase 1 (neuronal)	113	Interaction with NOSIP (By similarity).				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	GTCCCATCACCTGTAAAGGTG	0.632													15	24					0	0	1	0	0	T	117768538	C	T	117768538	3	4	33	1	0	0	0	0	1	0	0	0	10588	681	24	2	4079	2	NOS1	12	117768538	Missense_Mutation	SNP	C	TCGA-DB-A4XB-01A-11D-A26M-08	98175625	117768538	16083357	26	1418											
FAM155A	728215	broad.mit.edu	37	13	108518709	108518709	+	Missense_Mutation	SNP	T	T	C			TCGA-DB-A4XB-01A-11D-A26M-08	TCGA-DB-A4XB-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aaf7e22-1669-4db1-b137-944ff01ddbdc	456815aa-07ae-46de-bf95-78b15569f6b1	g.chr13:108518709T>C	ENST00000375915.2	-	1	374	c.236A>G	c.(235-237)cAg>cGg	p.Q79R		NM_001080396.2	NP_001073865.1	B1AL88	F155A_HUMAN	family with sequence similarity 155, member A	79	Poly-Gln.					integral to membrane	binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						ctgctgctgctgctgccgctg	0.677													21	29					0	0	1	0	0	C	108518709	T	C	108518709	3	2	33	1	0	0	0	0	1	0	0	0	5495	1580	55	3	1152	3	FAM155A	13	108518709	Missense_Mutation	SNP	T	TCGA-DB-A4XB-01A-11D-A26M-08		108518709	6651169	27	1419											
FERMT2	10979	broad.mit.edu	37	14	53385874	53385874	+	Missense_Mutation	SNP	A	A	G			TCGA-DB-A4XB-01A-11D-A26M-08	TCGA-DB-A4XB-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aaf7e22-1669-4db1-b137-944ff01ddbdc	456815aa-07ae-46de-bf95-78b15569f6b1	g.chr14:53385874A>G	ENST00000395631.2	-	3	574	c.358T>C	c.(358-360)Ttc>Ctc	p.F120L	FERMT2_ENST00000399304.3_Missense_Mutation_p.F120L|FERMT2_ENST00000341590.3_Missense_Mutation_p.F120L|FERMT2_ENST00000343279.4_Missense_Mutation_p.F120L|FERMT2_ENST00000553373.1_Missense_Mutation_p.F120L			Q96AC1	FERM2_HUMAN	fermitin family member 2	120					actin cytoskeleton organization|cell adhesion|cell junction assembly|regulation of cell shape	cell cortex|cytosol|focal adhesion|stress fiber	binding		ERO1L/FERMT2(2)	NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20	Breast(41;0.0342)					ACAGCTTTGAAGACTCTATCA	0.393													25	31					0	0	1	0	0	G	53385874	A	G	53385874	3	3	33	1	0	0	0	0	1	0	0	0	5851	72	3	3	1773	3	FERMT2	14	53385874	Missense_Mutation	SNP	A	TCGA-DB-A4XB-01A-11D-A26M-08		53385874	53963666	28	1420											
DIO2	1734	broad.mit.edu	37	14	80669148	80669148	+	Missense_Mutation	SNP	G	G	C			TCGA-DB-A4XB-01A-11D-A26M-08	TCGA-DB-A4XB-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aaf7e22-1669-4db1-b137-944ff01ddbdc	456815aa-07ae-46de-bf95-78b15569f6b1	g.chr14:80669148G>C	ENST00000557010.1	-	4	1091	c.706C>G	c.(706-708)Cag>Gag	p.Q236E	DIO2_ENST00000438257.4_Missense_Mutation_p.Q236E|DIO2_ENST00000422005.3_3'UTR|DIO2_ENST00000557125.1_3'UTR|DIO2_ENST00000555750.1_Missense_Mutation_p.Q272E	NM_000793.5|NM_001242502.1|NM_001242503.1	NP_000784.2|NP_001229431.1|NP_001229432.1	Q92813	IOD2_HUMAN	deiodinase, iodothyronine, type II	236					hormone biosynthetic process|selenocysteine incorporation|thyroid hormone generation	integral to membrane|plasma membrane	thyroxine 5'-deiodinase activity|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(14)|skin(1)|stomach(1)	25				BRCA - Breast invasive adenocarcinoma(234;0.0281)		GCAATTTTCTGTCTCTGCACA	0.507													23	24					0	0	1	0	0	C	80669148	G	C	80669148	3	2	33	1	0	0	0	0	1	0	0	0	4553	1386	48	5	119	5	DIO2	14	80669148	Missense_Mutation	SNP	G	TCGA-DB-A4XB-01A-11D-A26M-08	27283274	80669148	26680392	29	1421											
CATSPERB	79820	broad.mit.edu	37	14	92076966	92076966	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A4XB-01A-11D-A26M-08	TCGA-DB-A4XB-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aaf7e22-1669-4db1-b137-944ff01ddbdc	456815aa-07ae-46de-bf95-78b15569f6b1	g.chr14:92076966G>A	ENST00000256343.3	-	21	2612	c.2456C>T	c.(2455-2457)aCg>aTg	p.T819M		NM_024764.2	NP_079040.2	Q9H7T0	CTSRB_HUMAN	catsper channel auxiliary subunit beta	819					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54		all_cancers(154;0.0663)|all_epithelial(191;0.236)				CACCATTGTCGTAACAAAGCA	0.373													7	25					0	0	1	0	0	A	92076966	G	A	92076966	3	1	33	1	0	0	0	0	1	0	0	0	2709	1145	40	1	922	1	CATSPERB	14	92076966	Missense_Mutation	SNP	G	TCGA-DB-A4XB-01A-11D-A26M-08	11407818	92076966	15272574	30	1422											
ACAN	176	broad.mit.edu	37	15	89382124	89382124	+	Missense_Mutation	SNP	C	C	G			TCGA-DB-A4XB-01A-11D-A26M-08	TCGA-DB-A4XB-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aaf7e22-1669-4db1-b137-944ff01ddbdc	456815aa-07ae-46de-bf95-78b15569f6b1	g.chr15:89382124C>G	ENST00000439576.2	+	3	675	c.301C>G	c.(301-303)Cag>Gag	p.Q101E	ACAN_ENST00000558207.1_Missense_Mutation_p.Q101E|ACAN_ENST00000559004.1_Missense_Mutation_p.Q101E|ACAN_ENST00000561243.1_Missense_Mutation_p.Q101E|ACAN_ENST00000352105.7_Missense_Mutation_p.Q101E	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	101					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			CAGTGCCTATCAGGACAAGGT	0.617													30	103					0	0	1	0	0	G	89382124	C	G	89382124	3	3	33	1	0	0	0	0	1	0	0	0	117	827	29	5	307	5	ACAN	15	89382124	Missense_Mutation	SNP	C	TCGA-DB-A4XB-01A-11D-A26M-08		89382124	13149268	31	1423			1	1		2	2	19	C		2.209509e-05
ACAN	176	broad.mit.edu	37	15	89382142	89382142	+	Missense_Mutation	SNP	C	C	A			TCGA-DB-A4XB-01A-11D-A26M-08	TCGA-DB-A4XB-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aaf7e22-1669-4db1-b137-944ff01ddbdc	456815aa-07ae-46de-bf95-78b15569f6b1	g.chr15:89382142C>A	ENST00000439576.2	+	3	693	c.319C>A	c.(319-321)Ccc>Acc	p.P107T	ACAN_ENST00000558207.1_Missense_Mutation_p.P107T|ACAN_ENST00000559004.1_Missense_Mutation_p.P107T|ACAN_ENST00000561243.1_Missense_Mutation_p.P107T|ACAN_ENST00000352105.7_Missense_Mutation_p.P107T	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	107					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			GGTCTCACTGCCCAACTACCC	0.612													34	105					2.66277e-13	2.86247e-13	1	1	0	A	89382142	C	A	89382142	3	1	33	1	0	0	0	0	1	0	0	0	117	739	26	5	325	5	ACAN	15	89382142	Missense_Mutation	SNP	C	TCGA-DB-A4XB-01A-11D-A26M-08	18	89382142	13149250	32	1424			1	1		2	2	19	C		2.209509e-05
CLCN7	1186	broad.mit.edu	37	16	1506159	1506159	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DB-A4XB-01A-11D-A26M-08	TCGA-DB-A4XB-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aaf7e22-1669-4db1-b137-944ff01ddbdc	456815aa-07ae-46de-bf95-78b15569f6b1	g.chr16:1506159delC	ENST00000382745.4	-	10	1476	c.871delG	c.(871-873)gcafs	p.A291fs	CLCN7_ENST00000262318.8_Frame_Shift_Del_p.A267fs|CLCN7_ENST00000448525.1_Frame_Shift_Del_p.A267fs	NM_001287.5	NP_001278.1	P51798	CLCN7_HUMAN	chloride channel, voltage-sensitive 7	291						integral to membrane|lysosomal membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity			breast(2)|central_nervous_system(3)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	24		Hepatocellular(780;0.0893)				GCAGCCCCTGCGGAGACGAAG	0.652													2	4	---	---	---	---						-	1506159	C	-	1506159	7	5	33	1	0	1	0	1	0	0	0	0	3491	768	27	0	1610	0	CLCN7	16	1506159	Frame_Shift_Del	DEL	C	TCGA-DB-A4XB-01A-11D-A26M-08		1506159	88848594	33	1425											
TP53	7157	broad.mit.edu	37	17	7577538	7577538	+	Missense_Mutation	SNP	C	C	T	rs11540652		TCGA-DB-A4XB-01A-11D-A26M-08	TCGA-DB-A4XB-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aaf7e22-1669-4db1-b137-944ff01ddbdc	456815aa-07ae-46de-bf95-78b15569f6b1	g.chr17:7577538C>T	ENST00000420246.2	-	7	875	c.743G>A	c.(742-744)cGg>cAg	p.R248Q	TP53_ENST00000455263.2_Missense_Mutation_p.R248Q|TP53_ENST00000359597.4_Missense_Mutation_p.R248Q|TP53_ENST00000445888.2_Missense_Mutation_p.R248Q|TP53_ENST00000269305.4_Missense_Mutation_p.R248Q|TP53_ENST00000413465.2_Missense_Mutation_p.R248Q	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	248	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R248Q(580)|p.R248L(75)|p.R248P(19)|p.R155Q(18)|p.0?(8)|p.?(5)|p.R155L(3)|p.R155P(2)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248fs*>39(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(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)		GATGGGCCTCCGGTTCATGCC	0.572	R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	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)			45	7					0	0	1	0	0	T	7577538	C	T	7577538	3	4	33	1	0	0	0	0	1	0	0	0	16442	652	23	1	547	1	TP53	17	7577538	Missense_Mutation	SNP	C	TCGA-DB-A4XB-01A-11D-A26M-08		7577538	73617672	34	1426											
ALPK2	115701	broad.mit.edu	37	18	56203630	56203630	+	Silent	SNP	G	G	A	rs76266246	byFrequency	TCGA-DB-A4XB-01A-11D-A26M-08	TCGA-DB-A4XB-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aaf7e22-1669-4db1-b137-944ff01ddbdc	456815aa-07ae-46de-bf95-78b15569f6b1	g.chr18:56203630G>A	ENST00000361673.3	-	5	4002	c.3789C>T	c.(3787-3789)gaC>gaT	p.D1263D	RP11-1151B14.4_ENST00000591360.1_RNA	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	1263							ATP binding|protein serine/threonine kinase activity	p.D624D(1)		NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						TGAGACCACCGTCTGATGCCT	0.498													53	65					0	0	1	0	0	A	56203630	G	A	56203630	2	1	33	1	0	0	0	0	0	0	0	1	541	1136	40	1		1	ALPK2	18	56203630	Silent	SNP	G	TCGA-DB-A4XB-01A-11D-A26M-08		56203630	21873618	35	1427											
CPXM1	56265	broad.mit.edu	37	20	2775986	2775986	+	Silent	SNP	G	G	A			TCGA-DB-A4XB-01A-11D-A26M-08	TCGA-DB-A4XB-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aaf7e22-1669-4db1-b137-944ff01ddbdc	456815aa-07ae-46de-bf95-78b15569f6b1	g.chr20:2775986G>A	ENST00000380605.2	-	12	1861	c.1797C>T	c.(1795-1797)caC>caT	p.H599H		NM_001184699.1|NM_019609.4	NP_001171628.1|NP_062555.1	Q96SM3	CPXM1_HUMAN	carboxypeptidase X (M14 family), member 1	599					cell adhesion|proteolysis		metallocarboxypeptidase activity|zinc ion binding			endometrium(5)|kidney(5)|large_intestine(8)|lung(17)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						ATTCATTCTCGTGAGGGAACT	0.567													19	20					0	0	1	0	0	A	2775986	G	A	2775986	2	1	33	1	0	0	0	0	0	0	0	1	3860	1136	40	1		1	CPXM1	20	2775986	Silent	SNP	G	TCGA-DB-A4XB-01A-11D-A26M-08		2775986	60249534	36	1428											
EIF1AX	1964	broad.mit.edu	37	X	20156713	20156713	+	Missense_Mutation	SNP	C	C	A			TCGA-DB-A4XB-01A-11D-A26M-08	TCGA-DB-A4XB-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aaf7e22-1669-4db1-b137-944ff01ddbdc	456815aa-07ae-46de-bf95-78b15569f6b1	g.chrX:20156713C>A	ENST00000379607.5	-	2	247	c.44G>T	c.(43-45)gGt>gTt	p.G15V	EIF1AX_ENST00000379593.1_Intron	NM_001412.3	NP_001403.1	P47813	IF1AX_HUMAN	eukaryotic translation initiation factor 1A, X-linked	15						cytosol	translation initiation factor activity			endometrium(2)|lung(1)|ovary(1)|prostate(1)	5						CTCATTCTTACCCCTGCGTCT	0.308													13	2					7.03913e-09	7.3825e-09	1	1	0	A	20156713	C	A	20156713	3	1	33	1	0	0	0	0	1	0	0	0	5018	507	18	5	414	5	EIF1AX	23	20156713	Missense_Mutation	SNP	C	TCGA-DB-A4XB-01A-11D-A26M-08		20156713	135113847	37	1429											
ATRX	546	broad.mit.edu	37	X	76855199	76855199	+	Splice_Site	SNP	A	A	G			TCGA-DB-A4XB-01A-11D-A26M-08	TCGA-DB-A4XB-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aaf7e22-1669-4db1-b137-944ff01ddbdc	456815aa-07ae-46de-bf95-78b15569f6b1	g.chrX:76855199A>G	ENST00000373344.5	-	24	6001		c.e24+1		ATRX_ENST00000395603.3_Splice_Site|ATRX_ENST00000480283.1_Splice_Site	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked						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)	TATTCGATTTACTTTGTATAA	0.348			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						6	1					0	0	1	0	0	G	76855199	A	G	76855199	5	3	33	1	0	0	0	0	0	0	1	0	1206	405	14	3	1738	3	ATRX	23	76855199	Splice_Site	SNP	A	TCGA-DB-A4XB-01A-11D-A26M-08	56698486	76855199	78415361	38	1430											
TIE1	7075	broad.mit.edu	37	1	43784936	43784936	+	Missense_Mutation	SNP	G	G	A	rs45475401	byFrequency	TCGA-DB-A4XC-01A-11D-A26M-08	TCGA-DB-A4XC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b377c971-575a-49c8-896e-77eaf183423d	338ea083-8e51-4a68-b230-99b8c8356483	g.chr1:43784936G>A	ENST00000372476.3	+	18	3032	c.2953G>A	c.(2953-2955)Gtg>Atg	p.V985M	TIE1_ENST00000473014.1_3'UTR|TIE1_ENST00000433781.2_Missense_Mutation_p.V630M	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	985	Protein kinase.				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				TGCCCGGAATGTGCTGGTCGG	0.562													7	44					0	0	1	0	0	A	43784936	G	A	43784936	3	1	34	1	0	0	0	0	1	0	0	0	15953	1377	48	2	3023	2	TIE1	1	43784936	Missense_Mutation	SNP	G	TCGA-DB-A4XC-01A-11D-A26M-08		43784936	205465685	1	1431											
S100A9	6280	broad.mit.edu	37	1	153333307	153333307	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DB-A4XC-01A-11D-A26M-08	TCGA-DB-A4XC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b377c971-575a-49c8-896e-77eaf183423d	338ea083-8e51-4a68-b230-99b8c8356483	g.chr1:153333307delC	ENST00000368738.3	+	3	381	c.338delC	c.(337-339)accfs	p.T113fs		NM_002965.3	NP_002956.1	P06702	S10A9_HUMAN	S100 calcium binding protein A9	113					cell-cell signaling	cytoplasm|cytoskeleton|nucleus|plasma membrane	calcium ion binding|protein binding|signal transducer activity			breast(1)|endometrium(1)|large_intestine(2)	4	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			GGGGAGGGCACCCCCTAAGAC	0.652													2	4	---	---	---	---						-	153333307	C	-	153333307	7	5	34	1	0	1	0	1	0	0	0	0	13839	507	18	0	344	0	S100A9	1	153333307	Frame_Shift_Del	DEL	C	TCGA-DB-A4XC-01A-11D-A26M-08	109548371	153333307	95917314	2	1432											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-DB-A4XC-01A-11D-A26M-08	TCGA-DB-A4XC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b377c971-575a-49c8-896e-77eaf183423d	338ea083-8e51-4a68-b230-99b8c8356483	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	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								5	19					0	0	1	0	0	T	209113112	C	T	209113112	3	4	34	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-DB-A4XC-01A-11D-A26M-08		209113112	34086261	3	1433											
TMEM161B	153396	broad.mit.edu	37	5	87502987	87502987	+	Missense_Mutation	SNP	A	A	G			TCGA-DB-A4XC-01A-11D-A26M-08	TCGA-DB-A4XC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b377c971-575a-49c8-896e-77eaf183423d	338ea083-8e51-4a68-b230-99b8c8356483	g.chr5:87502987A>G	ENST00000296595.6	-	6	581	c.457T>C	c.(457-459)Ttt>Ctt	p.F153L	TMEM161B_ENST00000512429.1_Missense_Mutation_p.F142L|TMEM161B_ENST00000506536.1_Intron|TMEM161B_ENST00000511218.1_Intron|TMEM161B_ENST00000514135.1_Missense_Mutation_p.F153L|TMEM161B_ENST00000509387.1_Missense_Mutation_p.F26L	NM_153354.3	NP_699185.1	Q8NDZ6	T161B_HUMAN	transmembrane protein 161B	153						integral to membrane				endometrium(4)|large_intestine(3)|lung(9)|skin(3)|upper_aerodigestive_tract(1)	20		all_cancers(142;0.000275)|Lung NSC(167;0.00901)|all_lung(232;0.0111)|Colorectal(57;0.0959)|Ovarian(174;0.1)		OV - Ovarian serous cystadenocarcinoma(54;6.24e-36)|Epithelial(54;6.8e-31)|all cancers(79;1.07e-26)		GTTAATGAAAATAGAACTTTG	0.318													6	13					0	0	1	0	0	G	87502987	A	G	87502987	3	3	34	1	0	0	0	0	1	0	0	0	16137	101	4	3	1034	3	TMEM161B	5	87502987	Missense_Mutation	SNP	A	TCGA-DB-A4XC-01A-11D-A26M-08		87502987	93412273	4	1434											
ERAP1	51752	broad.mit.edu	37	5	96116772	96116775	+	Frame_Shift_Del	DEL	GTTT	GTTT	-			TCGA-DB-A4XC-01A-11D-A26M-08	TCGA-DB-A4XC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b377c971-575a-49c8-896e-77eaf183423d	338ea083-8e51-4a68-b230-99b8c8356483	g.chr5:96116772_96116775delGTTT	ENST00000296754.3	-	17	2832_2835	c.2575_2578delAAAC	c.(2575-2580)aaacttfs	p.KL859fs	ERAP1_ENST00000443439.2_Frame_Shift_Del_p.KL859fs	NM_016442.3	NP_057526.3	Q9NZ08	ERAP1_HUMAN	endoplasmic reticulum aminopeptidase 1	859					angiogenesis|antigen processing and presentation of endogenous peptide antigen via MHC class I|fat cell differentiation|membrane protein ectodomain proteolysis|regulation of blood pressure|regulation of innate immune response|response to bacterium	cytosol|endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region|integral to membrane	aminopeptidase activity|interleukin-1, Type II receptor binding|interleukin-6 receptor binding|metalloexopeptidase activity|zinc ion binding			endometrium(7)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|stomach(2)	19		all_cancers(142;1.75e-06)|all_epithelial(76;3.08e-09)|all_lung(232;0.000435)|Lung NSC(167;0.000601)|Ovarian(225;0.024)|Colorectal(57;0.0432)|Breast(839;0.244)		all cancers(79;7.26e-15)|COAD - Colon adenocarcinoma(37;0.071)		TTTTGTACAAGTTTGTTCCAGTTT	0.387													10	22	---	---	---	---						-	96116775	GTTT	-	96116772	7	5	34	1	0	1	0	1	0	0	0	0	5231	1029	36	0	292	0	ERAP1	5	96116772	Frame_Shift_Del	DEL	GTTT	TCGA-DB-A4XC-01A-11D-A26M-08	8613785	96116772	84798488	5	1435											
PCDHGA1	56114	broad.mit.edu	37	5	140710809	140710809	+	Silent	SNP	C	C	T			TCGA-DB-A4XC-01A-11D-A26M-08	TCGA-DB-A4XC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b377c971-575a-49c8-896e-77eaf183423d	338ea083-8e51-4a68-b230-99b8c8356483	g.chr5:140710809C>T	ENST00000517417.1	+	1	558	c.558C>T	c.(556-558)gcC>gcT	p.A186A	PCDHGA1_ENST00000378105.3_Silent_p.A186A	NM_018912.2	NP_061735.1														breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AACAGGGAGCCGATGGGCCTC	0.527													10	43					0	0	1	0	0	T	140710809	C	T	140710809	2	4	34	1	0	0	0	0	0	0	0	1	11597	639	23	1		1	PCDHGA1	5	140710809	Silent	SNP	C	TCGA-DB-A4XC-01A-11D-A26M-08	44594037	140710809	40204451	6	1436											
PCYOX1L	78991	broad.mit.edu	37	5	148748023	148748023	+	Missense_Mutation	SNP	C	C	A	rs142120062	byFrequency	TCGA-DB-A4XC-01A-11D-A26M-08	TCGA-DB-A4XC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b377c971-575a-49c8-896e-77eaf183423d	338ea083-8e51-4a68-b230-99b8c8356483	g.chr5:148748023C>A	ENST00000514349.1	+	5	1600	c.1021C>A	c.(1021-1023)Cgc>Agc	p.R341S	PCYOX1L_ENST00000274569.4_Missense_Mutation_p.R431S			Q8NBM8	PCYXL_HUMAN	prenylcysteine oxidase 1 like	431					prenylcysteine catabolic process	extracellular region	oxidoreductase activity, acting on a sulfur group of donors, oxygen as acceptor			breast(2)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTATGGCTCCCGCCCCACGCT	0.622													5	72					0.000602214	0.00064523	1	1	0	A	148748023	C	A	148748023	3	1	34	1	0	0	0	0	1	0	0	0	11656	652	23	5	1313	5	PCYOX1L	5	148748023	Missense_Mutation	SNP	C	TCGA-DB-A4XC-01A-11D-A26M-08	8037214	148748023	32167237	7	1437											
RUNX2	860	broad.mit.edu	37	6	45390466	45390466	+	Silent	SNP	A	A	G			TCGA-DB-A4XC-01A-11D-A26M-08	TCGA-DB-A4XC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b377c971-575a-49c8-896e-77eaf183423d	338ea083-8e51-4a68-b230-99b8c8356483	g.chr6:45390466A>G	ENST00000371438.1	+	2	553	c.195A>G	c.(193-195)caA>caG	p.Q65Q	RUNX2_ENST00000576263.1_Silent_p.Q65Q|RUNX2_ENST00000371436.6_Silent_p.Q65Q|RUNX2_ENST00000541979.1_Silent_p.Q133Q|RUNX2_ENST00000359524.5_Silent_p.Q51Q|RUNX2_ENST00000371432.3_Silent_p.Q51Q|RUNX2_ENST00000465038.2_Silent_p.Q65Q|RUNX2_ENST00000352853.5_Silent_p.Q133Q	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	65	Poly-Gln.				negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						agcagcagcaacagcagcagc	0.731													3	23					0	0	1	0	0	G	45390466	A	G	45390466	2	3	34	1	0	0	0	0	0	0	0	1	13800	40	2	3		3	RUNX2	6	45390466	Silent	SNP	A	TCGA-DB-A4XC-01A-11D-A26M-08		45390466	125724601	8	1438											
TFAP2B	7021	broad.mit.edu	37	6	50811003	50811003	+	Silent	SNP	C	C	G			TCGA-DB-A4XC-01A-11D-A26M-08	TCGA-DB-A4XC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b377c971-575a-49c8-896e-77eaf183423d	338ea083-8e51-4a68-b230-99b8c8356483	g.chr6:50811003C>G	ENST00000263046.4	+	8	1474	c.1308C>G	c.(1306-1308)ggC>ggG	p.G436G	TFAP2B_ENST00000393655.3_Silent_p.G427G			Q92481	AP2B_HUMAN	transcription factor AP-2 beta (activating enhancer binding protein 2 beta)	427				QLCKEFTDLLAQDRTPIGNSRPSPILEPGIQSCLTHFSLIT HGFGAPAICAALTALQNYLTEALKGMDKMFLNNTTTNRHTS GEGPGSKTGDKEEKHRK -> GNFVKNLRIYWRRTGHR (in Ref. 1; CAA71047).	nervous system development|positive regulation of transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)	40	Lung NSC(77;0.156)					CGCTCAAAGGCATGGACAAGA	0.582													12	27					0	0	1	0	0	G	50811003	C	G	50811003	2	3	34	1	0	0	0	0	0	0	0	1	15848	697	25	5		5	TFAP2B	6	50811003	Silent	SNP	C	TCGA-DB-A4XC-01A-11D-A26M-08	5420537	50811003	120304064	9	1439											
IL17F	112744	broad.mit.edu	37	6	52109195	52109195	+	Splice_Site	SNP	C	C	A			TCGA-DB-A4XC-01A-11D-A26M-08	TCGA-DB-A4XC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b377c971-575a-49c8-896e-77eaf183423d	338ea083-8e51-4a68-b230-99b8c8356483	g.chr6:52109195C>A	ENST00000336123.4	-	1	140	c.33G>T	c.(31-33)atG>atT	p.M11I		NM_052872.3	NP_443104.1	Q96PD4	IL17F_HUMAN	interleukin 17F	11					cartilage development|inflammatory response|lymphotoxin A biosynthetic process|negative regulation of angiogenesis|proteoglycan metabolic process|regulation of granulocyte macrophage colony-stimulating factor biosynthetic process|regulation of interleukin-2 biosynthetic process|regulation of interleukin-6 biosynthetic process|regulation of interleukin-8 biosynthetic process|regulation of transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|cytokine binding|protein homodimerization activity			NS(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)	14	Lung NSC(77;0.116)					TGCTACTCACCATGGCTGGGC	0.453													8	41					0.0692343	0.0716217	1	1	0	A	52109195	C	A	52109195	5	1	34	1	0	0	0	0	0	0	1	0	7682	608	21	5	470	5	IL17F	6	52109195	Splice_Site	SNP	C	TCGA-DB-A4XC-01A-11D-A26M-08	1298192	52109195	119005872	10	1440											
MAP3K4	4216	broad.mit.edu	37	6	161512543	161512543	+	Missense_Mutation	SNP	A	A	G			TCGA-DB-A4XC-01A-11D-A26M-08	TCGA-DB-A4XC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b377c971-575a-49c8-896e-77eaf183423d	338ea083-8e51-4a68-b230-99b8c8356483	g.chr6:161512543A>G	ENST00000392142.4	+	12	3254	c.3106A>G	c.(3106-3108)Atg>Gtg	p.M1036V	MAP3K4_ENST00000348824.7_Missense_Mutation_p.M1036V|MAP3K4_ENST00000366920.2_Missense_Mutation_p.M1036V|MAP3K4_ENST00000366919.2_Missense_Mutation_p.M1036V	NM_005922.2	NP_005913	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	1036					activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		CCGAGAAGCAATGATTCAGGG	0.393													4	49					0	0	1	0	0	G	161512543	A	G	161512543	3	3	34	1	0	0	0	0	1	0	0	0	9302	101	4	3	3152	3	MAP3K4	6	161512543	Missense_Mutation	SNP	A	TCGA-DB-A4XC-01A-11D-A26M-08	109403348	161512543	9602524	11	1441											
TNRC18	84629	broad.mit.edu	37	7	5352461	5352461	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DB-A4XC-01A-11D-A26M-08	TCGA-DB-A4XC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b377c971-575a-49c8-896e-77eaf183423d	338ea083-8e51-4a68-b230-99b8c8356483	g.chr7:5352461delG	ENST00000399537.4	-	27	8409	c.8061delC	c.(8059-8061)cccfs	p.P2687fs	TNRC18_ENST00000430969.1_Frame_Shift_Del_p.P2687fs			O15417	TNC18_HUMAN	trinucleotide repeat containing 18	2687							DNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		CCGTGGGGGCGGGGGCTGCCT	0.687													2	4	---	---	---	---						-	5352461	G	-	5352461	7	5	34	1	0	1	0	1	0	0	0	0	16399	1103	39	0	861	0	TNRC18	7	5352461	Frame_Shift_Del	DEL	G	TCGA-DB-A4XC-01A-11D-A26M-08		5352461	153786202	12	1442											
FAM166B	730112	broad.mit.edu	37	9	35563239	35563241	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-DB-A4XC-01A-11D-A26M-08	TCGA-DB-A4XC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b377c971-575a-49c8-896e-77eaf183423d	338ea083-8e51-4a68-b230-99b8c8356483	g.chr9:35563239_35563241delAGG	ENST00000399742.2	-	2	278_280	c.208_210delCCT	c.(208-210)cctdel	p.P70del	FAM166B_ENST00000492890.1_5'UTR	NM_001099951.2|NM_001164310.1	NP_001093421.1|NP_001157782.1	A8MTA8	F166B_HUMAN	family with sequence similarity 166, member B	70										kidney(3)|large_intestine(1)|lung(4)|ovary(1)	9						TGGGAACCTCAGGAGATCTTGGA	0.601													17	139	---	---	---	---						-	35563241	AGG	-	35563239	7	5	34	1	0	1	0	1	0	0	0	0	5512	175	7	0	456	0	FAM166B	9	35563239	In_Frame_Del	DEL	AGG	TCGA-DB-A4XC-01A-11D-A26M-08		35563239	105650192	13	1443											
C11orf30	56946	broad.mit.edu	37	11	76174901	76174901	+	Missense_Mutation	SNP	A	A	G			TCGA-DB-A4XC-01A-11D-A26M-08	TCGA-DB-A4XC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b377c971-575a-49c8-896e-77eaf183423d	338ea083-8e51-4a68-b230-99b8c8356483	g.chr11:76174901A>G	ENST00000529032.1	+	6	608	c.608A>G	c.(607-609)aAa>aGa	p.K203R	C11orf30_ENST00000525919.1_Missense_Mutation_p.K204R|C11orf30_ENST00000533248.1_Missense_Mutation_p.K217R|C11orf30_ENST00000524490.1_Missense_Mutation_p.K204R|C11orf30_ENST00000525038.1_Missense_Mutation_p.K218R|C11orf30_ENST00000343878.3_Missense_Mutation_p.K203R|C11orf30_ENST00000334736.3_Missense_Mutation_p.K203R|C11orf30_ENST00000524767.1_Missense_Mutation_p.K218R			Q7Z589	EMSY_HUMAN	chromosome 11 open reading frame 30	203	Interaction with BRCA2.				chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2)	60						AAACCCAGAAAACGAAGGCGA	0.413													25	71					0	0	1	0	0	G	76174901	A	G	76174901	3	3	34	1	0	0	0	0	1	0	0	0	1641	14	1	3	630	3	C11orf30	11	76174901	Missense_Mutation	SNP	A	TCGA-DB-A4XC-01A-11D-A26M-08		76174901	58831615	14	1444											
DTX1	1840	broad.mit.edu	37	12	113515358	113515358	+	Missense_Mutation	SNP	A	A	G			TCGA-DB-A4XC-01A-11D-A26M-08	TCGA-DB-A4XC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b377c971-575a-49c8-896e-77eaf183423d	338ea083-8e51-4a68-b230-99b8c8356483	g.chr12:113515358A>G	ENST00000257600.3	+	2	892	c.389A>G	c.(388-390)cAg>cGg	p.Q130R		NM_004416.2	NP_004407.2	Q86Y01	DTX1_HUMAN	deltex homolog 1 (Drosophila)	130	WWE 2.				negative regulation of neuron differentiation|Notch signaling pathway|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter	cytoplasm|nucleus	Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	32						ATCACCATCCAGAACGCCTAC	0.607													10	52					0	0	1	0	0	G	113515358	A	G	113515358	3	3	34	1	0	0	0	0	1	0	0	0	4819	188	7	3	395	3	DTX1	12	113515358	Missense_Mutation	SNP	A	TCGA-DB-A4XC-01A-11D-A26M-08		113515358	20336537	15	1445											
KIAA0586	9786	broad.mit.edu	37	14	58899174	58899177	+	Splice_Site	DEL	AAGT	AAGT	-			TCGA-DB-A4XC-01A-11D-A26M-08	TCGA-DB-A4XC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b377c971-575a-49c8-896e-77eaf183423d	338ea083-8e51-4a68-b230-99b8c8356483	g.chr14:58899174_58899177delAAGT	ENST00000423743.3	+	4	412_413	c.154_155delAAGT	c.(154-156)aag>g	p.K52fs	KIAA0586_ENST00000556134.1_Splice_Site_p.K122fs|KIAA0586_ENST00000354386.6_Splice_Site_p.K149fs|KIAA0586_ENST00000261244.5_Splice_Site_p.K137fs	NM_001244191.1|NM_001244192.1	NP_001231120.1|NP_001231121.1	E9PGW8	E9PGW8_HUMAN	KIAA0586	136										endometrium(4)|kidney(6)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						TTTAAAGCAAAAGTAAGTTTCATT	0.279													4	5	---	---	---	---						-	58899177	AAGT	-	58899174	8	5	34	1	0	1	0	1	0	0	1	0	8228	28	1	0	423	0	KIAA0586	14	58899174	Splice_Site	DEL	AAGT	TCGA-DB-A4XC-01A-11D-A26M-08		58899174	48450366	16	1446											
RPS6KL1	83694	broad.mit.edu	37	14	75386664	75386664	+	Missense_Mutation	SNP	T	T	G			TCGA-DB-A4XC-01A-11D-A26M-08	TCGA-DB-A4XC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b377c971-575a-49c8-896e-77eaf183423d	338ea083-8e51-4a68-b230-99b8c8356483	g.chr14:75386664T>G	ENST00000555647.1	-	4	561	c.274A>C	c.(274-276)Aac>Cac	p.N92H	RPS6KL1_ENST00000557413.1_Missense_Mutation_p.N92H|RPS6KL1_ENST00000354625.2_Missense_Mutation_p.N92H|RPS6KL1_ENST00000358328.4_Missense_Mutation_p.N92H|RPS6KL1_ENST00000554900.1_5'UTR			Q9Y6S9	RPKL1_HUMAN	ribosomal protein S6 kinase-like 1	92	MIT.					ribosome	ATP binding|protein serine/threonine kinase activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17				BRCA - Breast invasive adenocarcinoma(234;0.00658)		CGCTCCTTGTTGGGGTCAACT	0.607													9	24					0	0	1	0	0	G	75386664	T	G	75386664	3	3	34	1	0	0	0	0	1	0	0	0	13711	1812	63	5	1387	5	RPS6KL1	14	75386664	Missense_Mutation	SNP	T	TCGA-DB-A4XC-01A-11D-A26M-08	16487490	75386664	31962876	17	1447											
ADAMTS7	11173	broad.mit.edu	37	15	79059040	79059040	+	Silent	SNP	A	A	G	rs144043775	by1000genomes	TCGA-DB-A4XC-01A-11D-A26M-08	TCGA-DB-A4XC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b377c971-575a-49c8-896e-77eaf183423d	338ea083-8e51-4a68-b230-99b8c8356483	g.chr15:79059040A>G	ENST00000388820.4	-	19	3423	c.3213T>C	c.(3211-3213)aaT>aaC	p.N1071N		NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	1071					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.N1071N(2)|p.N1071S(2)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						CCTCGTGGAAATTGATGAAAT	0.617													4	36					0	0	1	0	0	G	79059040	A	G	79059040	2	3	34	1	0	0	0	0	0	0	0	1	270	98	4	3		3	ADAMTS7	15	79059040	Silent	SNP	A	TCGA-DB-A4XC-01A-11D-A26M-08		79059040	23472352	18	1448											
MMP25	64386	broad.mit.edu	37	16	3108981	3108981	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DB-A4XC-01A-11D-A26M-08	TCGA-DB-A4XC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b377c971-575a-49c8-896e-77eaf183423d	338ea083-8e51-4a68-b230-99b8c8356483	g.chr16:3108981delC	ENST00000336577.4	+	10	1808	c.1571delC	c.(1570-1572)accfs	p.T524fs	RP11-473M20.7_ENST00000572427.1_RNA|RP11-473M20.7_ENST00000572222.1_RNA|RP11-473M20.7_ENST00000576250.1_RNA|RP11-473M20.7_ENST00000572574.1_RNA	NM_022468.4	NP_071913.1	Q9NPA2	MMP25_HUMAN	matrix metallopeptidase 25	524					inflammatory response|proteolysis	anchored to membrane|cell surface|plasma membrane|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	14						CCCAAAGCGACCCCCGTGTCC	0.711													2	4	---	---	---	---						-	3108981	C	-	3108981	7	5	34	1	0	1	0	1	0	0	0	0	9711	507	18	0	1609	0	MMP25	16	3108981	Frame_Shift_Del	DEL	C	TCGA-DB-A4XC-01A-11D-A26M-08		3108981	87245772	19	1449											
CNOT1	23019	broad.mit.edu	37	16	58589320	58589323	+	Frame_Shift_Del	DEL	TCTT	TCTT	-			TCGA-DB-A4XC-01A-11D-A26M-08	TCGA-DB-A4XC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b377c971-575a-49c8-896e-77eaf183423d	338ea083-8e51-4a68-b230-99b8c8356483	g.chr16:58589320_58589323delTCTT	ENST00000317147.5	-	21	3055_3058	c.2723_2726delAAGA	c.(2722-2727)aaagagfs	p.KE908fs	CNOT1_ENST00000569732.1_5'UTR|CNOT1_ENST00000441024.2_Frame_Shift_Del_p.KE908fs|CNOT1_ENST00000569240.1_Frame_Shift_Del_p.KE903fs	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	908					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		TATATGTAACTCTTTATCAGGATA	0.373													15	71	---	---	---	---						-	58589323	TCTT	-	58589320	7	5	34	1	0	1	0	1	0	0	0	0	3640	1551	54	0	4742	0	CNOT1	16	58589320	Frame_Shift_Del	DEL	TCTT	TCGA-DB-A4XC-01A-11D-A26M-08	55480339	58589320	31765433	20	1450											
TP53	7157	broad.mit.edu	37	17	7579406	7579406	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DB-A4XC-01A-11D-A26M-08	TCGA-DB-A4XC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b377c971-575a-49c8-896e-77eaf183423d	338ea083-8e51-4a68-b230-99b8c8356483	g.chr17:7579406G>C	ENST00000420246.2	-	4	413	c.281C>G	c.(280-282)tCa>tGa	p.S94*	TP53_ENST00000445888.2_Nonsense_Mutation_p.S94*|TP53_ENST00000455263.2_Nonsense_Mutation_p.S94*|TP53_ENST00000413465.2_Nonsense_Mutation_p.S94*|TP53_ENST00000269305.4_Nonsense_Mutation_p.S94*|TP53_ENST00000359597.4_Nonsense_Mutation_p.S94*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	94	Interaction with WWOX.		S -> L (in sporadic cancers; somatic mutation).|S -> T (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.0?(8)|p.S94*(3)|p.G59fs*23(3)|p.V73fs*9(1)|p.A88fs*52(1)|p.W91fs*13(1)|p.P13fs*18(1)|p.S33fs*23(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)		GACAGAAGATGACAGGGGCCA	0.627		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)			51	26					0	0	1	0	0	C	7579406	G	C	7579406	4	2	34	1	0	0	0	0	0	1	0	0	16442	1294	45	5	1021	5	TP53	17	7579406	Nonsense_Mutation	SNP	G	TCGA-DB-A4XC-01A-11D-A26M-08		7579406	73615804	21	1451											
MYH13	8735	broad.mit.edu	37	17	10210260	10210260	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A4XC-01A-11D-A26M-08	TCGA-DB-A4XC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b377c971-575a-49c8-896e-77eaf183423d	338ea083-8e51-4a68-b230-99b8c8356483	g.chr17:10210260G>A	ENST00000418404.3	-	35	5454	c.5291C>T	c.(5290-5292)aCg>aTg	p.T1764M	MYH13_ENST00000252172.4_Missense_Mutation_p.T1764M|RP11-401O9.4_ENST00000609088.1_RNA			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1764					muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						GCTCACATCCGTGATGGCCTT	0.517													10	55					0	0	1	0	0	A	10210260	G	A	10210260	3	1	34	1	0	0	0	0	1	0	0	0	10080	1145	40	1	549	1	MYH13	17	10210260	Missense_Mutation	SNP	G	TCGA-DB-A4XC-01A-11D-A26M-08	2630854	10210260	70984950	22	1452											
TADA2A	6871	broad.mit.edu	37	17	35783699	35783699	+	Missense_Mutation	SNP	T	T	C			TCGA-DB-A4XC-01A-11D-A26M-08	TCGA-DB-A4XC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b377c971-575a-49c8-896e-77eaf183423d	338ea083-8e51-4a68-b230-99b8c8356483	g.chr17:35783699T>C	ENST00000394395.2	+	3	289	c.116T>C	c.(115-117)tTt>tCt	p.F39S	TADA2A_ENST00000417170.1_Missense_Mutation_p.F39S|TADA2A_ENST00000225396.6_Missense_Mutation_p.F39S|TADA2A_ENST00000586023.1_Missense_Mutation_p.F39S	NM_001166105.1	NP_001159577.1	O75478	TAD2A_HUMAN	transcriptional adaptor 2A	39	Cys-rich.				histone H3 acetylation|transcription from RNA polymerase II promoter	chromosome|PCAF complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity|zinc ion binding			breast(4)|cervix(1)|endometrium(1)|kidney(2)|lung(3)|prostate(1)|skin(1)	13						CCACCTCCTTTTTTCCTCTGC	0.443													9	53					0	0	1	0	0	C	35783699	T	C	35783699	3	2	34	1	0	0	0	0	1	0	0	0	15567	1841	64	3	122	3	TADA2A	17	35783699	Missense_Mutation	SNP	T	TCGA-DB-A4XC-01A-11D-A26M-08	25573439	35783699	45411511	23	1453											
GRIN2C	2905	broad.mit.edu	37	17	72843447	72843449	+	Splice_Site	DEL	CTT	CTT	-			TCGA-DB-A4XC-01A-11D-A26M-08	TCGA-DB-A4XC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b377c971-575a-49c8-896e-77eaf183423d	338ea083-8e51-4a68-b230-99b8c8356483	g.chr17:72843447_72843449delCTT	ENST00000293190.5	-	9	2145_2147	c.1999_2001delAAG	c.(1999-2001)aagdel	p.K667del	GRIN2C_ENST00000347612.4_Splice_Site_p.K667del	NM_000835.3	NP_000826.2	Q14957	NMDE3_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2C	667					glutamate signaling pathway	cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|N-methyl-D-aspartate selective glutamate receptor activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	33	all_lung(278;0.172)|Lung NSC(278;0.207)				Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)	GCCCCACAACCTTCTTGTCACTG	0.611													9	66	---	---	---	---						-	72843449	CTT	-	72843447	8	5	34	1	0	1	0	1	0	0	1	0	6822	695	24	0	1720	0	GRIN2C	17	72843447	Splice_Site	DEL	CTT	TCGA-DB-A4XC-01A-11D-A26M-08	37059748	72843447	8351763	24	1454											
SLC25A10	1468	broad.mit.edu	37	17	79674051	79674051	+	Missense_Mutation	SNP	A	A	G			TCGA-DB-A4XC-01A-11D-A26M-08	TCGA-DB-A4XC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b377c971-575a-49c8-896e-77eaf183423d	338ea083-8e51-4a68-b230-99b8c8356483	g.chr17:79674051A>G	ENST00000571730.1	+	4	592	c.461A>G	c.(460-462)cAa>cGa	p.Q154R	MRPL12_ENST00000333676.3_Missense_Mutation_p.Q154R|SLC25A10_ENST00000541223.1_Missense_Mutation_p.Q154R			Q9UBX3	DIC_HUMAN	solute carrier family 25 (mitochondrial carrier; dicarboxylate transporter), member 10	0					gluconeogenesis|mitochondrial transport	integral to membrane|mitochondrial inner membrane|nucleus	protein binding			endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(2)	14	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0117)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)		Succinic acid(DB00139)	AACTACATCCAAGGCATCAAC	0.587													8	46					0	0	1	0	0	G	79674051	A	G	79674051	3	3	34	1	0	0	0	0	1	0	0	0	14527	130	5	3		3	SLC25A10	17	79674051	Missense_Mutation	SNP	A	TCGA-DB-A4XC-01A-11D-A26M-08	6830604	79674051	1521159	25	1455											
RASGRP4	115727	broad.mit.edu	37	19	38909083	38909083	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A4XC-01A-11D-A26M-08	TCGA-DB-A4XC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b377c971-575a-49c8-896e-77eaf183423d	338ea083-8e51-4a68-b230-99b8c8356483	g.chr19:38909083G>A	ENST00000454404.2	-	7	896	c.683C>T	c.(682-684)cCc>cTc	p.P228L	RASGRP4_ENST00000587753.1_Missense_Mutation_p.P262L|RASGRP4_ENST00000293062.9_Intron|RASGRP4_ENST00000433821.2_Missense_Mutation_p.P262L|RASGRP4_ENST00000426920.2_Intron|RASGRP4_ENST00000586305.1_Missense_Mutation_p.P248L|RASGRP4_ENST00000587738.1_Missense_Mutation_p.P262L	NM_001146205.1|NM_170604.2	NP_001139677.1|NP_733749.1	Q8TDF6	GRP4_HUMAN	RAS guanyl releasing protein 4	262	Ras-GEF.				activation of phospholipase C activity|cell growth|cell proliferation|myeloid cell differentiation|positive regulation of Ras protein signal transduction|regulation of G-protein coupled receptor protein signaling pathway|response to extracellular stimulus|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|membrane fraction|plasma membrane|soluble fraction	diacylglycerol binding|GTP-dependent protein binding|metal ion binding|Ras guanyl-nucleotide exchange factor activity			cervix(1)|kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|prostate(3)|skin(1)	23	all_cancers(60;4.21e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			TAGGGGCCCGGGACGGCTCAG	0.662													3	12					0	0	1	0	0	A	38909083	G	A	38909083	3	1	34	1	0	0	0	0	1	0	0	0	13129	1232	43	2	1280	2	RASGRP4	19	38909083	Missense_Mutation	SNP	G	TCGA-DB-A4XC-01A-11D-A26M-08		38909083	20219900	26	1456											
SSTR4	6754	broad.mit.edu	37	20	23016513	23016513	+	Missense_Mutation	SNP	C	C	G			TCGA-DB-A4XC-01A-11D-A26M-08	TCGA-DB-A4XC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b377c971-575a-49c8-896e-77eaf183423d	338ea083-8e51-4a68-b230-99b8c8356483	g.chr20:23016513C>G	ENST00000255008.3	+	1	457	c.393C>G	c.(391-393)ttC>ttG	p.F131L	RP4-753D10.3_ENST00000440921.1_RNA	NM_001052.2	NP_001043.2	P31391	SSR4_HUMAN	somatostatin receptor 4	131					G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	32	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)					TCAACATGTTCACCAGCGTCT	0.711													34	60					0	0	1	0	0	G	23016513	C	G	23016513	3	3	34	1	0	0	0	0	1	0	0	0	15256	825	29	5	395	5	SSTR4	20	23016513	Missense_Mutation	SNP	C	TCGA-DB-A4XC-01A-11D-A26M-08		23016513	40009007	27	1457											
MAGEB16	139604	broad.mit.edu	37	X	35820265	35820265	+	Silent	SNP	C	C	T	rs5928990	by1000genomes	TCGA-DB-A4XC-01A-11D-A26M-08	TCGA-DB-A4XC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b377c971-575a-49c8-896e-77eaf183423d	338ea083-8e51-4a68-b230-99b8c8356483	g.chrX:35820265C>T	ENST00000399992.1	+	3	147	c.48C>T	c.(46-48)tgC>tgT	p.C16C	MAGEB16_ENST00000399987.1_5'UTR|MAGEB16_ENST00000399989.1_5'UTR|MAGEB16_ENST00000399988.1_5'UTR|MAGEB16_ENST00000399985.1_5'UTR			A2A368	MAGBG_HUMAN	melanoma antigen family B, 16	0										breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						TTCTTCATTGCCTGCCCTCCT	0.522													3	15					0	0	1	0	0	T	35820265	C	T	35820265	2	4	34	1	0	0	0	0	0	0	0	1	9224	754	26	2		2	MAGEB16	23	35820265	Silent	SNP	C	TCGA-DB-A4XC-01A-11D-A26M-08		35820265	119450295	28	1458											
ATRX	546	broad.mit.edu	37	X	76938089	76938092	+	Frame_Shift_Del	DEL	TCTC	TCTC	-	rs141180098		TCGA-DB-A4XC-01A-11D-A26M-08	TCGA-DB-A4XC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b377c971-575a-49c8-896e-77eaf183423d	338ea083-8e51-4a68-b230-99b8c8356483	g.chrX:76938089_76938092delTCTC	ENST00000373344.5	-	9	2870_2873	c.2656_2659delGAGA	c.(2656-2661)gagactfs	p.ET886fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.ET848fs	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	886					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.E886fs*18(1)|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)	GAAGAGAAAGTCTCTCTCTCTTGT	0.412			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						46	26	---	---	---	---						-	76938092	TCTC	-	76938089	7	5	34	1	0	1	0	1	0	0	0	0	1206	1667	58	0	4927	0	ATRX	23	76938089	Frame_Shift_Del	DEL	TCTC	TCGA-DB-A4XC-01A-11D-A26M-08	41117824	76938089	78332471	29	1459											
ABCG8	64241	broad.mit.edu	37	2	44099378	44099378	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chr2:44099378G>A	ENST00000272286.2	+	8	1234	c.1144G>A	c.(1144-1146)Gac>Aac	p.D382N		NM_022437.2	NP_071882.1	Q9H221	ABCG8_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 8	382					cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				GACCCCACTAGACACCAACTG	0.582													11	57					0	0	1	0	0	A	44099378	G	A	44099378	3	1	35	1	0	0	0	0	1	0	0	0	72	942	33	2	1174	2	ABCG8	2	44099378	Missense_Mutation	SNP	G	TCGA-DB-A4XD-01A-11D-A27K-08		44099378	199099995	1	1460											
LONRF2	164832	broad.mit.edu	37	2	100915722	100915722	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chr2:100915722C>T	ENST00000393437.3	-	6	1966	c.1327G>A	c.(1327-1329)Gat>Aat	p.D443N	LONRF2_ENST00000409647.1_Missense_Mutation_p.D200N	NM_198461.3	NP_940863.3	Q1L5Z9	LONF2_HUMAN	LON peptidase N-terminal domain and ring finger 2	443					proteolysis		ATP-dependent peptidase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	34						TCAGTTACATCAAGCGAGAGC	0.418													6	32					0	0	1	0	0	T	100915722	C	T	100915722	3	4	35	1	0	0	0	0	1	0	0	0	8940	826	29	2	965	2	LONRF2	2	100915722	Missense_Mutation	SNP	C	TCGA-DB-A4XD-01A-11D-A27K-08	56816344	100915722	142283651	2	1461											
TTN	7273	broad.mit.edu	37	2	179587270	179587270	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chr2:179587270C>T	ENST00000589042.1	-	77	22468	c.22244G>A	c.(22243-22245)cGc>cAc	p.R7415H	TTN_ENST00000342992.6_Missense_Mutation_p.R6171H|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.R7098H|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	7098	Ig-like 56.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGGGAGTTGGCGCTCTGTAGG	0.378													4	135					0	0	1	0	0	T	179587270	C	T	179587270	3	4	35	1	0	0	0	0	1	0	0	0	16797	768	27	1	82429	1	TTN	2	179587270	Missense_Mutation	SNP	C	TCGA-DB-A4XD-01A-11D-A27K-08	78671548	179587270	63612103	3	1462											
IDH1	3417	broad.mit.edu	37	2	209113113	209113113	+	Missense_Mutation	SNP	G	G	A	rs121913499		TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chr2:209113113G>A	ENST00000415913.1	-	4	775	c.394C>T	c.(394-396)Cgt>Tgt	p.R132C	IDH1_ENST00000345146.2_Missense_Mutation_p.R132C|IDH1_ENST00000446179.1_Missense_Mutation_p.R132C	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		TAAGCATGACGACCTATGATG	0.398			Mis		gliobastoma								25	36					0	0	1	0	0	A	209113113	G	A	209113113	3	1	35	1	0	0	0	0	1	0	0	0	7538	1058	37	1	878	1	IDH1	2	209113113	Missense_Mutation	SNP	G	TCGA-DB-A4XD-01A-11D-A27K-08	29525843	209113113	34086260	4	1463											
TBL1XR1	79718	broad.mit.edu	37	3	176782756	176782756	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chr3:176782756delT	ENST00000430069.1	-	3	269	c.10delA	c.(10-12)agcfs	p.S5fs	TBL1XR1_ENST00000457928.2_Frame_Shift_Del_p.S5fs			Q9BZK7	TBL1R_HUMAN	transducin (beta)-like 1 X-linked receptor 1	5	LisH.				canonical Wnt receptor signaling pathway|cellular lipid metabolic process|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|proteasomal ubiquitin-dependent protein catabolic process|transcription, DNA-dependent	spindle microtubule|transcriptional repressor complex	beta-catenin binding|histone binding|protein N-terminus binding|transcription corepressor activity|transcription regulatory region DNA binding			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(7)|liver(1)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(143;1.44e-17)|Ovarian(172;0.00163)|Breast(254;0.214)	Acute lymphoblastic leukemia(1;0.00599)|all_hematologic(1;0.0632)|Prostate(884;0.215)	OV - Ovarian serous cystadenocarcinoma(80;9.83e-31)			TCATCACTGCTTATACTCATC	0.289													2	4	---	---	---	---						-	176782756	T	-	176782756	7	5	35	1	0	1	0	1	0	0	0	0	15700	1609	56	0	1590	0	TBL1XR1	3	176782756	Frame_Shift_Del	DEL	T	TCGA-DB-A4XD-01A-11D-A27K-08		176782756	21239674	5	1464											
ANK2	287	broad.mit.edu	37	4	114278387	114278387	+	Silent	SNP	T	T	C			TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chr4:114278387T>C	ENST00000357077.4	+	38	8666	c.8613T>C	c.(8611-8613)atT>atC	p.I2871I	ANK2_ENST00000264366.6_Silent_p.I2838I|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000394537.3_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	2838					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		CATCTTCTATTCAAAAAACAG	0.373													4	164					0	0	1	0	0	C	114278387	T	C	114278387	2	2	35	1	0	0	0	0	0	0	0	1	617	1771	62	3		3	ANK2	4	114278387	Silent	SNP	T	TCGA-DB-A4XD-01A-11D-A27K-08		114278387	76875889	6	1465											
SLC6A3	6531	broad.mit.edu	37	5	1416304	1416304	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chr5:1416304C>T	ENST00000270349.9	-	7	1067	c.940G>A	c.(940-942)Gcg>Acg	p.A314T	SLC6A3_ENST00000453492.2_Missense_Mutation_p.A314T	NM_001044.4	NP_001035.1	Q01959	SC6A3_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 3	314					cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body				breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)	TGGGTGGCCGCGTCAATCCAA	0.627													9	67					0	0	1	0	0	T	1416304	C	T	1416304	3	4	35	1	0	0	0	0	1	0	0	0	14740	768	27	1	958	1	SLC6A3	5	1416304	Missense_Mutation	SNP	C	TCGA-DB-A4XD-01A-11D-A27K-08		1416304	179498956	7	1466											
KLHL3	26249	broad.mit.edu	37	5	136993906	136993906	+	Missense_Mutation	SNP	T	T	C			TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chr5:136993906T>C	ENST00000508657.1	-	8	1435	c.721A>G	c.(721-723)Atg>Gtg	p.M241V	KLHL3_ENST00000506873.1_5'UTR|KLHL3_ENST00000541417.1_Missense_Mutation_p.M153V|KLHL3_ENST00000394937.3_Missense_Mutation_p.M273V|KLHL3_ENST00000309755.4_Missense_Mutation_p.M273V|KLHL3_ENST00000506491.1_Missense_Mutation_p.M191V	NM_001257194.1	NP_001244123.1	Q9UH77	KLHL3_HUMAN	kelch-like family member 3	273						cytoplasm|cytoskeleton	actin binding|structural molecule activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|stomach(1)|upper_aerodigestive_tract(1)	21		all_hematologic(541;3.67e-07)|Breast(839;7.61e-05)|Prostate(281;0.000825)|Ovarian(839;0.0481)|all_lung(232;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)	GBM - Glioblastoma multiforme(465;0.0223)		TGGTATTTCATGGCCTCAATG	0.473													44	66					0	0	1	0	0	C	136993906	T	C	136993906	3	2	35	1	0	0	0	0	1	0	0	0	8426	1464	51	3	978	3	KLHL3	5	136993906	Missense_Mutation	SNP	T	TCGA-DB-A4XD-01A-11D-A27K-08	135577602	136993906	43921354	8	1467											
PCDHA10	56139	broad.mit.edu	37	5	140237074	140237074	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chr5:140237074G>A	ENST00000307360.5	+	1	1441	c.1441G>A	c.(1441-1443)Gcg>Acg	p.A481T	PCDHA9_ENST00000532602.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000506939.2_Missense_Mutation_p.A481T|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018901.2	NP_061724.1												p.A481S(2)		NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCGTGGGACGCGGACGCGCA	0.662													5	280					0	0	1	0	0	A	140237074	G	A	140237074	3	1	35	1	0	0	0	0	1	0	0	0	11567	1087	38	1	1443	1	PCDHA10	5	140237074	Missense_Mutation	SNP	G	TCGA-DB-A4XD-01A-11D-A27K-08	3243168	140237074	40678186	9	1468											
PCDHB3	56132	broad.mit.edu	37	5	140480514	140480514	+	Missense_Mutation	SNP	A	A	G			TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chr5:140480514A>G	ENST00000231130.2	+	1	281	c.281A>G	c.(280-282)gAg>gGg	p.E94G	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN		94	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GACCGGGAGGAGCTATGCGGC	0.463													10	153					0	0	1	0	0	G	140480514	A	G	140480514	3	3	35	1	0	0	0	0	1	0	0	0	11590	304	11	3	283	3	PCDHB3	5	140480514	Missense_Mutation	SNP	A	TCGA-DB-A4XD-01A-11D-A27K-08	243440	140480514	40434746	10	1469											
SERPINB9	5272	broad.mit.edu	37	6	2892078	2892078	+	Missense_Mutation	SNP	C	C	G			TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chr6:2892078C>G	ENST00000380698.4	-	6	801	c.712G>C	c.(712-714)Gag>Cag	p.E238Q		NM_004155.5	NP_004146.1	P50453	SPB9_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 9	238					anti-apoptosis|cellular response to estrogen stimulus|immune response|mast cell mediated immunity|regulation of proteolysis	cytosol|extracellular space|nucleus	caspase inhibitor activity|protease binding|serine-type endopeptidase inhibitor activity			breast(1)|endometrium(4)|large_intestine(3)|lung(5)|pancreas(1)|prostate(1)	15	Ovarian(93;0.0412)	all_hematologic(90;0.108)				GTGCTGAGCTCCACGCCGTCG	0.642													4	142					0	0	1	0	0	G	2892078	C	G	2892078	3	3	35	1	0	0	0	0	1	0	0	0	14162	864	30	5	426	5	SERPINB9	6	2892078	Missense_Mutation	SNP	C	TCGA-DB-A4XD-01A-11D-A27K-08		2892078	168222989	11	1470											
DEK	7913	broad.mit.edu	37	6	18236804	18236804	+	Missense_Mutation	SNP	T	T	G			TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chr6:18236804T>G	ENST00000397239.3	-	9	1373	c.926A>C	c.(925-927)gAt>gCt	p.D309A	DEK_ENST00000244776.7_Missense_Mutation_p.D275A	NM_003472.3	NP_003463.1	P35659	DEK_HUMAN	DEK oncogene	309	Asp/Glu-rich (acidic).				chromatin modification|regulation of transcription from RNA polymerase II promoter|signal transduction|transcription from RNA polymerase II promoter|viral genome replication	nucleus	DNA binding|histone binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	7	Ovarian(93;0.00769)|Breast(50;0.0495)	all_hematologic(90;0.053)	OV - Ovarian serous cystadenocarcinoma(7;0.00291)|all cancers(50;0.031)|Epithelial(50;0.0332)			TAAAGGTTCATCATCTGAACT	0.294			T	NUP214	AML								6	59					0	0	1	0	0	G	18236804	T	G	18236804	3	3	35	1	0	0	0	0	1	0	0	0	4452	1435	50	4	213	4	DEK	6	18236804	Missense_Mutation	SNP	T	TCGA-DB-A4XD-01A-11D-A27K-08	15344726	18236804	152878263	12	1471											
BCLAF1	9774	broad.mit.edu	37	6	136588241	136588241	+	Missense_Mutation	SNP	T	T	G			TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chr6:136588241T>G	ENST00000531224.1	-	11	2722	c.2470A>C	c.(2470-2472)Act>Cct	p.T824P	BCLAF1_ENST00000353331.4_Intron|BCLAF1_ENST00000530767.1_Missense_Mutation_p.T651P|BCLAF1_ENST00000392348.2_Intron|BCLAF1_ENST00000529917.1_5'UTR|BCLAF1_ENST00000527536.1_Intron|BCLAF1_ENST00000527759.1_Missense_Mutation_p.T822P|BCLAF1_ENST00000031135.9_Missense_Mutation_p.T42P	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	824					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		TGAAAAGTAGTATTTGAGTTG	0.393													7	83					0	0	1	0	0	G	136588241	T	G	136588241	3	3	35	1	0	0	0	0	1	0	0	0	1381	1638	57	5	304	5	BCLAF1	6	136588241	Missense_Mutation	SNP	T	TCGA-DB-A4XD-01A-11D-A27K-08	118351437	136588241	34526826	13	1472											
SYNE1	23345	broad.mit.edu	37	6	152763234	152763234	+	Silent	SNP	C	C	A			TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chr6:152763234C>A	ENST00000367255.5	-	31	4585	c.3984G>T	c.(3982-3984)cgG>cgT	p.R1328R	SYNE1_ENST00000367253.4_Silent_p.R1328R|SYNE1_ENST00000423061.1_Silent_p.R1335R|SYNE1_ENST00000413186.2_Silent_p.R1328R|SYNE1_ENST00000341594.5_Silent_p.R1394R|SYNE1_ENST00000448038.1_Silent_p.R1335R|SYNE1_ENST00000367248.3_Silent_p.R1318R|SYNE1_ENST00000265368.4_Silent_p.R1328R	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1328					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CCTGCCTCTCCCGGCTGCGCT	0.632										HNSCC(10;0.0054)			4	148					0.184627	0.187342	1	1	0	A	152763234	C	A	152763234	2	1	35	1	0	0	0	0	0	0	0	1	15502	610	22	5		5	SYNE1	6	152763234	Silent	SNP	C	TCGA-DB-A4XD-01A-11D-A27K-08	16174993	152763234	18351833	14	1473											
TTLL2	83887	broad.mit.edu	37	6	167752140	167752140	+	Missense_Mutation	SNP	T	T	C			TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chr6:167752140T>C	ENST00000239587.5	+	2	141	c.53T>C	c.(52-54)tTg>tCg	p.L18S		NM_031949.4	NP_114155.4	Q9BWV7	TTLL2_HUMAN	tubulin tyrosine ligase-like family, member 2	18					protein modification process		ATP binding|tubulin-tyrosine ligase activity			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(66;7.8e-06)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		CACAGATCTTTGAGAACCACC	0.488													31	48					0	0	1	0	0	C	167752140	T	C	167752140	3	2	35	1	0	0	0	0	1	0	0	0	16789	1821	63	3	59	3	TTLL2	6	167752140	Missense_Mutation	SNP	T	TCGA-DB-A4XD-01A-11D-A27K-08	14988906	167752140	3362927	15	1474											
WBSCR17	64409	broad.mit.edu	37	7	70800596	70800596	+	Missense_Mutation	SNP	C	C	T	rs140476927		TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chr7:70800596C>T	ENST00000333538.5	+	2	933	c.299C>T	c.(298-300)cCg>cTg	p.P100L	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	100						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)				GGGGGCCTTCCGGCTACTCTT	0.463													7	86					0	0	1	0	0	T	70800596	C	T	70800596	3	4	35	1	0	0	0	0	1	0	0	0	17324	652	23	1	305	1	WBSCR17	7	70800596	Missense_Mutation	SNP	C	TCGA-DB-A4XD-01A-11D-A27K-08		70800596	88338067	16	1475											
LMTK2	22853	broad.mit.edu	37	7	97736519	97736521	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chr7:97736519_97736521delGCT	ENST00000297293.5	+	1	323_325	c.30_32delGCT	c.(28-33)aggctg>agg	p.L16del		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	16					early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					TGCGGCGGAGGCTGCTGCTGCTG	0.764													2	4	---	---	---	---						-	97736521	GCT	-	97736519	7	5	35	1	0	1	0	1	0	0	0	0	8900	1194	42	0	32	0	LMTK2	7	97736519	In_Frame_Del	DEL	GCT	TCGA-DB-A4XD-01A-11D-A27K-08	26935923	97736519	61402144	17	1476											
CPA1	1357	broad.mit.edu	37	7	130023308	130023308	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chr7:130023308C>T	ENST00000011292.3	+	5	710	c.560C>T	c.(559-561)gCc>gTc	p.A187V	CPA1_ENST00000484324.1_Missense_Mutation_p.A99V	NM_001868.2	NP_001859.1	P15085	CBPA1_HUMAN	carboxypeptidase A1 (pancreatic)	187					proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)	21	Melanoma(18;0.0435)					GTCACCCAGGCCAGTGGGGTC	0.642													18	47					0	0	1	0	0	T	130023308	C	T	130023308	3	4	35	1	0	0	0	0	1	0	0	0	3812	739	26	2	578	2	CPA1	7	130023308	Missense_Mutation	SNP	C	TCGA-DB-A4XD-01A-11D-A27K-08	32286789	130023308	29115355	18	1477											
MFHAS1	9258	broad.mit.edu	37	8	8750372	8750372	+	Missense_Mutation	SNP	T	T	G			TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chr8:8750372T>G	ENST00000276282.6	-	1	783	c.197A>C	c.(196-198)gAg>gCg	p.E66A		NM_004225.2	NP_004216.2	Q9Y4C4	MFHA1_HUMAN	malignant fibrous histiocytoma amplified sequence 1	66										endometrium(1)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|stomach(1)	21		Hepatocellular(245;0.217)		COAD - Colon adenocarcinoma(149;0.124)		GTTCAGTGCCTCAATGTCCCC	0.746													4	19					0	0	1	0	0	G	8750372	T	G	8750372	3	3	35	1	0	0	0	0	1	0	0	0	9571	1551	54	5	2973	5	MFHAS1	8	8750372	Missense_Mutation	SNP	T	TCGA-DB-A4XD-01A-11D-A27K-08		8750372	137613650	19	1478											
KIAA1429	25962	broad.mit.edu	37	8	95503832	95503832	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chr8:95503832C>T	ENST00000297591.5	-	22	5189	c.5114G>A	c.(5113-5115)aGg>aAg	p.R1705K	KIAA1429_ENST00000437199.1_3'UTR	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	1705					mRNA processing|RNA splicing	nucleus				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			TGTGAAAAACCTATTCTGACT	0.393													6	118					0	0	1	0	0	T	95503832	C	T	95503832	3	4	35	1	0	0	0	0	1	0	0	0	8273	681	24	2	336	2	KIAA1429	8	95503832	Missense_Mutation	SNP	C	TCGA-DB-A4XD-01A-11D-A27K-08	86753460	95503832	50860190	20	1479											
COL22A1	169044	broad.mit.edu	37	8	139768055	139768055	+	Silent	SNP	C	C	T			TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chr8:139768055C>T	ENST00000303045.6	-	19	2366	c.1920G>A	c.(1918-1920)gcG>gcA	p.A640A	COL22A1_ENST00000435777.1_Silent_p.A640A	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	640	Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			CAGGTGGCCCCGCAGGTCCCA	0.547										HNSCC(7;0.00092)			11	156					0	0	1	0	0	T	139768055	C	T	139768055	2	4	35	1	0	0	0	0	0	0	0	1	3704	639	23	1		1	COL22A1	8	139768055	Silent	SNP	C	TCGA-DB-A4XD-01A-11D-A27K-08	44264223	139768055	6595967	21	1480											
KANK1	23189	broad.mit.edu	37	9	713193	713193	+	Silent	SNP	G	G	A			TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chr9:713193G>A	ENST00000382303.1	+	7	3079	c.2427G>A	c.(2425-2427)gaG>gaA	p.E809E	KANK1_ENST00000382297.2_Silent_p.E809E|KANK1_ENST00000489369.1_3'UTR|KANK1_ENST00000382293.3_Silent_p.E651E	NM_001256876.1	NP_001243805.1	Q14678	KANK1_HUMAN	KN motif and ankyrin repeat domains 1	809					negative regulation of actin filament polymerization	cytoplasm				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1)	43		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)		AATCTCTGGAGAACCCCCAGC	0.572													17	167					0	0	1	0	0	A	713193	G	A	713193	2	1	35	1	0	0	0	0	0	0	0	1	8020	933	33	2		2	KANK1	9	713193	Silent	SNP	G	TCGA-DB-A4XD-01A-11D-A27K-08		713193	140500238	22	1481											
SNAPC4	6621	broad.mit.edu	37	9	139291430	139291430	+	Splice_Site	SNP	G	G	A			TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chr9:139291430G>A	ENST00000298532.2	-	2	544	c.176C>T	c.(175-177)tCg>tTg	p.S59L		NM_003086.2	NP_003077.2	Q5SXM2	SNPC4_HUMAN	small nuclear RNA activating complex, polypeptide 4, 190kDa	59					snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter	snRNA-activating protein complex	DNA binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	33		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)		AACAGTTACCGAGATCGGGGG	0.567													51	108					0	0	1	0	0	A	139291430	G	A	139291430	5	1	35	1	0	0	0	0	0	0	1	0	14891	1072	37	1	4317	1	SNAPC4	9	139291430	Splice_Site	SNP	G	TCGA-DB-A4XD-01A-11D-A27K-08	138578237	139291430	1922001	23	1482											
NUDT13	25961	broad.mit.edu	37	10	74879835	74879835	+	Missense_Mutation	SNP	C	C	T	rs145352986	byFrequency	TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chr10:74879835C>T	ENST00000357321.4	+	3	261	c.143C>T	c.(142-144)gCg>gTg	p.A48V	NUDT13_ENST00000488223.1_3'UTR|NUDT13_ENST00000544879.1_5'UTR|NUDT13_ENST00000537969.1_5'UTR|NUDT13_ENST00000372997.3_Missense_Mutation_p.A48V|NUDT13_ENST00000349051.5_Missense_Mutation_p.A48V	NM_001283016.1|NM_015901.4	NP_001269945.1|NP_056985.3	Q86X67	NUD13_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 13	48							hydrolase activity|metal ion binding			large_intestine(2)|lung(5)	7	Prostate(51;0.0119)					CAAACAGGAGCGTTTTACCTC	0.448													25	106					0	0	1	0	0	T	74879835	C	T	74879835	3	4	35	1	0	0	0	0	1	0	0	0	10777	768	27	1	149	1	NUDT13	10	74879835	Missense_Mutation	SNP	C	TCGA-DB-A4XD-01A-11D-A27K-08		74879835	60654912	24	1483											
TBX10	347853	broad.mit.edu	37	11	67400532	67400532	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chr11:67400532C>T	ENST00000335385.3	-	5	679	c.592G>A	c.(592-594)Gtg>Atg	p.V198M		NM_005995.4	NP_005986.2	O75333	TBX10_HUMAN	T-box 10	198					anatomical structure morphogenesis|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|lung(4)|ovary(1)	7						ACGAAGACCACGTGGAAACGG	0.567													24	344					0	0	1	0	0	T	67400532	C	T	67400532	3	4	35	1	0	0	0	0	1	0	0	0	15711	536	19	1	581	1	TBX10	11	67400532	Missense_Mutation	SNP	C	TCGA-DB-A4XD-01A-11D-A27K-08		67400532	67605984	25	1484											
SERPINH1	871	broad.mit.edu	37	11	75282973	75282973	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chr11:75282973C>T	ENST00000524558.1	+	5	2537	c.1102C>T	c.(1102-1104)Cag>Tag	p.Q368*	SERPINH1_ENST00000533603.1_Nonsense_Mutation_p.Q368*|SERPINH1_ENST00000358171.3_Nonsense_Mutation_p.Q368*|SERPINH1_ENST00000525876.1_Nonsense_Mutation_p.Q151*			P50454	SERPH_HUMAN	serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1)	368					regulation of proteolysis|response to unfolded protein	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	collagen binding|serine-type endopeptidase inhibitor activity			endometrium(4)|large_intestine(3)|liver(1)|lung(4)|ovary(2)|stomach(1)	15	Ovarian(111;0.11)					CCCCTTTGACCAGGACATCTA	0.617													21	62					0	0	1	0	0	T	75282973	C	T	75282973	4	4	35	1	0	0	0	0	0	1	0	0	14171	595	21	2	1116	2	SERPINH1	11	75282973	Nonsense_Mutation	SNP	C	TCGA-DB-A4XD-01A-11D-A27K-08	7882441	75282973	59723543	26	1485											
SLCO1B1	10599	broad.mit.edu	37	12	21327629	21327629	+	Missense_Mutation	SNP	T	T	A			TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chr12:21327629T>A	ENST00000256958.2	+	4	441	c.345T>A	c.(343-345)caT>caA	p.H115Q		NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family, member 1B1	115					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)	CTTTGCCACATTTCTTCATGG	0.323													21	32					0	0	1	0	0	A	21327629	T	A	21327629	3	1	35	1	0	0	0	0	1	0	0	0	14778	1490	52	4	355	4	SLCO1B1	12	21327629	Missense_Mutation	SNP	T	TCGA-DB-A4XD-01A-11D-A27K-08		21327629	112524266	27	1486											
USP44	84101	broad.mit.edu	37	12	95926723	95926723	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chr12:95926723C>T	ENST00000258499.3	-	2	1598	c.1310G>A	c.(1309-1311)cGt>cAt	p.R437H	USP44_ENST00000537435.2_Missense_Mutation_p.R437H|USP44_ENST00000552440.1_Missense_Mutation_p.R437H|USP44_ENST00000393091.2_Missense_Mutation_p.R437H	NM_001278393.1|NM_032147.2	NP_001265322.1|NP_115523.2	Q9H0E7	UBP44_HUMAN	ubiquitin specific peptidase 44	437					anaphase|cell division|mitosis|negative regulation of mitotic anaphase-promoting complex activity|protein deubiquitination|regulation of spindle checkpoint|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(5)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	36						CTCTAATTCACGTTGTATTTT	0.393													11	76					0	0	1	0	0	T	95926723	C	T	95926723	3	4	35	1	0	0	0	0	1	0	0	0	17135	536	19	1	848	1	USP44	12	95926723	Missense_Mutation	SNP	C	TCGA-DB-A4XD-01A-11D-A27K-08	74599094	95926723	37925172	28	1487											
STAB2	55576	broad.mit.edu	37	12	104033987	104033987	+	Silent	SNP	G	G	A			TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chr12:104033987G>A	ENST00000388887.2	+	9	1197	c.993G>A	c.(991-993)ccG>ccA	p.P331P		NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	331	EGF-like 5.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						CAGATAACCCGTGTCATAGGA	0.463													32	80					0	0	1	0	0	A	104033987	G	A	104033987	2	1	35	1	0	0	0	0	0	0	0	1	15294	1132	40	1		1	STAB2	12	104033987	Silent	SNP	G	TCGA-DB-A4XD-01A-11D-A27K-08	8107264	104033987	29817908	29	1488											
FBXW8	26259	broad.mit.edu	37	12	117448196	117448196	+	Silent	SNP	G	G	A	rs146667375	byFrequency	TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chr12:117448196G>A	ENST00000455858.2	+	8	1183	c.1110G>A	c.(1108-1110)acG>acA	p.T370T	FBXW8_ENST00000309909.5_Silent_p.T436T	NM_012174.1|NM_153348.2	NP_036306.1|NP_699179.2	Q8N3Y1	FBXW8_HUMAN	F-box and WD repeat domain containing 8	436							protein binding			endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	22	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0353)		GTGACTTCACGTGTGTCAACC	0.572													14	146					0	0	1	0	0	A	117448196	G	A	117448196	2	1	35	1	0	0	0	0	0	0	0	1	5803	1132	40	1		1	FBXW8	12	117448196	Silent	SNP	G	TCGA-DB-A4XD-01A-11D-A27K-08	13414209	117448196	16403699	30	1489											
ATP11A	23250	broad.mit.edu	37	13	113487270	113487270	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chr13:113487270delG	ENST00000487903.1	+	14	1580	c.1492delG	c.(1492-1494)gggfs	p.G499fs	ATP11A_ENST00000283558.8_Frame_Shift_Del_p.G499fs|ATP11A_ENST00000375645.3_Frame_Shift_Del_p.G499fs|ATP11A_ENST00000375630.2_Frame_Shift_Del_p.G499fs			P98196	AT11A_HUMAN	ATPase, class VI, type 11A	499					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)				ATCGCCGGACGGGGGGAAATC	0.622													7	497	---	---	---	---						-	113487270	G	-	113487270	7	5	35	1	0	1	0	1	0	0	0	0	1118	1116	39	0	1546	0	ATP11A	13	113487270	Frame_Shift_Del	DEL	G	TCGA-DB-A4XD-01A-11D-A27K-08		113487270	1682608	31	1490											
GPX2	2877	broad.mit.edu	37	14	65409342	65409342	+	Missense_Mutation	SNP	T	T	G			TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chr14:65409342T>G	ENST00000389614.5	-	1	189	c.103A>C	c.(103-105)Aat>Cat	p.N35H	CHURC1-FNTB_ENST00000549987.1_Intron|FNTB_ENST00000447296.2_Intron|FNTB_ENST00000542227.1_Intron	NM_002083.3	NP_002074.2	P18283	GPX2_HUMAN	glutathione peroxidase 2 (gastrointestinal)	35					response to oxidative stress	cytoplasm	electron carrier activity|glutathione peroxidase activity			large_intestine(2)|ovary(1)|skin(1)	4				all cancers(60;0.00117)|OV - Ovarian serous cystadenocarcinoma(108;0.00557)|BRCA - Breast invasive adenocarcinoma(234;0.00971)	Glutathione(DB00143)	GAAGCCACATTCTCAATCAGC	0.577													5	113					0	0	1	0	0	G	65409342	T	G	65409342	3	3	35	1	0	0	0	0	1	0	0	0	6781	1783	62	5	477	5	GPX2	14	65409342	Missense_Mutation	SNP	T	TCGA-DB-A4XD-01A-11D-A27K-08		65409342	41940198	32	1491											
MCTP2	55784	broad.mit.edu	37	15	94927307	94927307	+	Missense_Mutation	SNP	A	A	G			TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chr15:94927307A>G	ENST00000357742.4	+	12	1639	c.1639A>G	c.(1639-1641)Acc>Gcc	p.T547A	MCTP2_ENST00000331706.4_Missense_Mutation_p.T135A|MCTP2_ENST00000557742.1_Missense_Mutation_p.T135A|MCTP2_ENST00000451018.3_Missense_Mutation_p.T547A	NM_018349.3	NP_060819.3	Q6DN12	MCTP2_HUMAN	multiple C2 domains, transmembrane 2	547	C2 3.				calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			TCAGACGCATACCGTCTACAA	0.433													5	49					0	0	1	0	0	G	94927307	A	G	94927307	3	3	35	1	0	0	0	0	1	0	0	0	9451	391	14	3	1685	3	MCTP2	15	94927307	Missense_Mutation	SNP	A	TCGA-DB-A4XD-01A-11D-A27K-08		94927307	7604085	33	1492											
TP53	7157	broad.mit.edu	37	17	7578190	7578190	+	Missense_Mutation	SNP	T	T	C	rs121912666		TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chr17:7578190T>C	ENST00000420246.2	-	6	791	c.659A>G	c.(658-660)tAt>tGt	p.Y220C	TP53_ENST00000359597.4_Missense_Mutation_p.Y220C|TP53_ENST00000413465.2_Missense_Mutation_p.Y220C|TP53_ENST00000574684.1_Intron|TP53_ENST00000269305.4_Missense_Mutation_p.Y220C|TP53_ENST00000455263.2_Missense_Mutation_p.Y220C|TP53_ENST00000445888.2_Missense_Mutation_p.Y220C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	220	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 a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.Y220C(278)|p.Y127C(24)|p.Y220S(12)|p.?(11)|p.0?(8)|p.D208fs*1(1)|p.Y220_P223delYEPP(1)|p.V218_E224delVPYEPPE(1)|p.V218_E221delVPYE(1)|p.Y127S(1)|p.V218_Y220delVPY(1)|p.Y220fs*25(1)|p.V216_Y220delVVVPY(1)|p.Y220fs*2(1)|p.V218fs*26(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)		AGGCGGCTCATAGGGCACCAC	0.557		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)			33	5					0	0	1	0	0	C	7578190	T	C	7578190	3	2	35	1	0	0	0	0	1	0	0	0	16442	1406	49	3	635	3	TP53	17	7578190	Missense_Mutation	SNP	T	TCGA-DB-A4XD-01A-11D-A27K-08		7578190	73617020	34	1493											
TP53	7157	broad.mit.edu	37	17	7578508	7578508	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chr17:7578508C>T	ENST00000420246.2	-	5	554	c.422G>A	c.(421-423)tGc>tAc	p.C141Y	TP53_ENST00000359597.4_Missense_Mutation_p.C141Y|TP53_ENST00000413465.2_Missense_Mutation_p.C141Y|TP53_ENST00000269305.4_Missense_Mutation_p.C141Y|TP53_ENST00000455263.2_Missense_Mutation_p.C141Y|TP53_ENST00000445888.2_Missense_Mutation_p.C141Y	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	141	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		C -> A (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.C141Y(79)|p.0?(8)|p.C9Y(5)|p.C48Y(5)|p.A138_P142delAKTCP(4)|p.C141F(4)|p.C141S(3)|p.N131fs*27(2)|p.C9S(1)|p.K139_C141>N(1)|p.L137_W146del10(1)|p.C141A(1)|p.A6_P10delAKTCP(1)|p.K139fs*4(1)|p.A45_P49delAKTCP(1)|p.T140fs*28(1)|p.A138_V143delAKTCPV(1)|p.C48S(1)|p.C141fs*5(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)		CTGCACAGGGCAGGTCTTGGC	0.572		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)			5	78					0	0	1	0	0	T	7578508	C	T	7578508	3	4	35	1	0	0	0	0	1	0	0	0	16442	710	25	2	876	2	TP53	17	7578508	Missense_Mutation	SNP	C	TCGA-DB-A4XD-01A-11D-A27K-08	318	7578508	73616702	35	1494											
FLOT2	2319	broad.mit.edu	37	17	27208913	27208913	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chr17:27208913G>A	ENST00000394906.2	-	10	1075	c.998C>T	c.(997-999)aCg>aTg	p.T333M	FLOT2_ENST00000394908.4_Missense_Mutation_p.T278M|FLOT2_ENST00000585169.1_Missense_Mutation_p.T278M|FLOT2_ENST00000577789.1_5'UTR			Q14254	FLOT2_HUMAN	flotillin 2	278					cell adhesion|epidermis development	cell surface|endocytic vesicle|endosome|membrane fraction				endometrium(3)|lung(6)|prostate(1)|urinary_tract(1)	11	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		Epithelial(11;3.26e-06)|all cancers(11;1.76e-05)|BRCA - Breast invasive adenocarcinoma(11;0.00015)|OV - Ovarian serous cystadenocarcinoma(11;0.0602)			CTCCTTGTCCGTACGCAGGAT	0.617													4	146					0	0	1	0	0	A	27208913	G	A	27208913	3	1	35	1	0	0	0	0	1	0	0	0	5970	1145	40	1	469	1	FLOT2	17	27208913	Missense_Mutation	SNP	G	TCGA-DB-A4XD-01A-11D-A27K-08	19630405	27208913	53986297	36	1495											
SF3A2	8175	broad.mit.edu	37	19	2247981	2247981	+	Silent	SNP	A	A	C			TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chr19:2247981A>C	ENST00000221494.5	+	9	1249	c.831A>C	c.(829-831)ccA>ccC	p.P277P		NM_007165.4	NP_009096.2	Q15428	SF3A2_HUMAN	splicing factor 3a, subunit 2, 66kDa		Pro-rich.				nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex	nucleic acid binding|zinc ion binding			NS(1)|large_intestine(1)|lung(2)	4		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)		CCCCGGGACCACCCCAGCTAC	0.756													4	5					0	0	1	0	0	C	2247981	A	C	2247981	2	2	35	1	0	0	0	0	0	0	0	1	14201	146	6	5		5	SF3A2	19	2247981	Silent	SNP	A	TCGA-DB-A4XD-01A-11D-A27K-08		2247981	56881002	37	1496											
ACSBG2	81616	broad.mit.edu	37	19	6187326	6187326	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chr19:6187326C>T	ENST00000588304.1	+	12	1869	c.1423C>T	c.(1423-1425)Ccc>Tcc	p.P475S	ACSBG2_ENST00000252669.5_Missense_Mutation_p.P525S|ACSBG2_ENST00000586696.1_Missense_Mutation_p.P525S|ACSBG2_ENST00000591403.1_Missense_Mutation_p.P525S|ACSBG2_ENST00000591741.1_3'UTR|ACSBG2_ENST00000588485.1_Missense_Mutation_p.P338S			Q5FVE4	ACBG2_HUMAN	acyl-CoA synthetase bubblegum family member 2	525					cell differentiation|fatty acid metabolic process|multicellular organismal development|spermatogenesis	membrane|microsome|mitochondrion	acyl-CoA thioesterase activity|ATP binding|long-chain fatty acid-CoA ligase activity			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(3)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TGAAAATGTGCCCCCCATTCC	0.483													14	164					0	0	1	0	0	T	6187326	C	T	6187326	3	4	35	1	0	0	0	0	1	0	0	0	174	739	26	2	1615	2	ACSBG2	19	6187326	Missense_Mutation	SNP	C	TCGA-DB-A4XD-01A-11D-A27K-08	3939345	6187326	52941657	38	1497											
MEGF8	1954	broad.mit.edu	37	19	42873066	42873066	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chr19:42873066G>A	ENST00000334370.4	+	36	6987	c.6352G>A	c.(6352-6354)Ggg>Agg	p.G2118R	MEGF8_ENST00000251268.6_Missense_Mutation_p.G2185R	NM_001410.2	NP_001401.2	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	2185	PSI 6.					integral to membrane	calcium ion binding|structural molecule activity			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				GTGTGCAAACGGGCACCACGA	0.622													51	54					0	0	1	0	0	A	42873066	G	A	42873066	3	1	35	1	0	0	0	0	1	0	0	0	9513	1116	39	1	6494	1	MEGF8	19	42873066	Missense_Mutation	SNP	G	TCGA-DB-A4XD-01A-11D-A27K-08	36685740	42873066	16255917	39	1498											
NLRP12	91662	broad.mit.edu	37	19	54314482	54314482	+	Missense_Mutation	SNP	T	T	A			TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chr19:54314482T>A	ENST00000324134.6	-	3	599	c.431A>T	c.(430-432)aAt>aTt	p.N144I	NLRP12_ENST00000345770.5_Missense_Mutation_p.N144I|NLRP12_ENST00000391772.1_Missense_Mutation_p.N144I|NLRP12_ENST00000391775.3_Missense_Mutation_p.N144I|NLRP12_ENST00000391773.1_Missense_Mutation_p.N144I|NLRP12_ENST00000351894.4_Missense_Mutation_p.N144I|NLRP12_ENST00000535162.1_Missense_Mutation_p.N144I|NLRP12_ENST00000354278.3_Missense_Mutation_p.N144I	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	144					negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		TAGGCGCGCATTGCGGTCTTC	0.567													46	136					0	0	1	0	0	A	54314482	T	A	54314482	3	1	35	1	0	0	0	0	1	0	0	0	10521	1493	52	4	2882	4	NLRP12	19	54314482	Missense_Mutation	SNP	T	TCGA-DB-A4XD-01A-11D-A27K-08	11441416	54314482	4814501	40	1499											
FIZ1	84922	broad.mit.edu	37	19	56104856	56104856	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chr19:56104856delA	ENST00000221665.3	-	3	540	c.451delT	c.(451-453)tgcfs	p.C151fs	FIZ1_ENST00000592585.1_3'UTR	NM_032836.2	NP_116225.2	Q96SL8	FIZ1_HUMAN	FLT3-interacting zinc finger 1	151					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein kinase binding|receptor binding|zinc ion binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)	11			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)		CAGACGGAGCAGGGCGCACTC	0.761													2	4	---	---	---	---						-	56104856	A	-	56104856	7	5	35	1	0	1	0	1	0	0	0	0	5933	188	7	0	1043	0	FIZ1	19	56104856	Frame_Shift_Del	DEL	A	TCGA-DB-A4XD-01A-11D-A27K-08	1790374	56104856	3024127	41	1500											
GAB4	128954	broad.mit.edu	37	22	17444666	17444666	+	Silent	SNP	C	C	G			TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chr22:17444666C>G	ENST00000400588.1	-	9	1637	c.1530G>C	c.(1528-1530)ccG>ccC	p.P510P		NM_001037814.1	NP_001032903.1	Q2WGN9	GAB4_HUMAN	GRB2-associated binding protein family, member 4	510										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(24)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44		all_epithelial(15;0.112)|Lung NSC(13;0.248)				CAGTGCTCCTCGGCGGGGCTG	0.612													3	55					0	0	1	0	0	G	17444666	C	G	17444666	2	3	35	1	0	0	0	0	0	0	0	1	6186	871	31	5		5	GAB4	22	17444666	Silent	SNP	C	TCGA-DB-A4XD-01A-11D-A27K-08		17444666	33859900	42	1501											
USP9X	8239	broad.mit.edu	37	X	41084138	41084138	+	Missense_Mutation	SNP	A	A	G			TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chrX:41084138A>G	ENST00000324545.8	+	40	7528	c.6895A>G	c.(6895-6897)Acc>Gcc	p.T2299A	USP9X_ENST00000378308.2_Missense_Mutation_p.T2299A	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked						BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						TTCAGAGGAAACCGTCAAATT	0.383													4	52					0	0	1	0	0	G	41084138	A	G	41084138	3	3	35	1	0	0	0	0	1	0	0	0	17150	43	2	3	7049	3	USP9X	23	41084138	Missense_Mutation	SNP	A	TCGA-DB-A4XD-01A-11D-A27K-08		41084138	114186422	43	1502											
ATRX	546	broad.mit.edu	37	X	76814303	76814306	+	Frame_Shift_Del	DEL	ATAA	ATAA	-			TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chrX:76814303_76814306delATAA	ENST00000373344.5	-	29	6552_6555	c.6338_6341delTTAT	c.(6337-6342)tttatcfs	p.FI2113fs	ATRX_ENST00000395603.3_Frame_Shift_Del_p.FI2075fs|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	2113	Helicase C-terminal.				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.F2113fs*9(1)|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)	AGTAGAAATGATAAATAATCGTCC	0.289			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						8	12	---	---	---	---						-	76814306	ATAA	-	76814303	7	5	35	1	0	1	0	1	0	0	0	0	1206	333	12	0	1165	0	ATRX	23	76814303	Frame_Shift_Del	DEL	ATAA	TCGA-DB-A4XD-01A-11D-A27K-08	35730165	76814303	78456257	44	1503											
ATRX	546	broad.mit.edu	37	X	76909677	76909680	+	Frame_Shift_Del	DEL	CTTT	CTTT	-			TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chrX:76909677_76909680delCTTT	ENST00000373344.5	-	14	4439_4442	c.4225_4228delAAAG	c.(4225-4230)aaagcafs	p.KA1409fs	ATRX_ENST00000395603.3_Frame_Shift_Del_p.KA1371fs|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1409					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)	TCCAACTCTGCTTTCTTTGCAGAC	0.319			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						8	48	---	---	---	---						-	76909680	CTTT	-	76909677	7	5	35	1	0	1	0	1	0	0	0	0	1206	797	28	0	3338	0	ATRX	23	76909677	Frame_Shift_Del	DEL	CTTT	TCGA-DB-A4XD-01A-11D-A27K-08	95374	76909677	78360883	45	1504											
ATRX	546	broad.mit.edu	37	X	76937770	76937770	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chrX:76937770delT	ENST00000373344.5	-	9	3192	c.2978delA	c.(2977-2979)aagfs	p.K994fs	ATRX_ENST00000395603.3_Frame_Shift_Del_p.K956fs|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	994					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)	TGAAGGTTTCTTTTTTTCTTC	0.343			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						11	74	---	---	---	---						-	76937770	T	-	76937770	7	5	35	1	0	1	0	1	0	0	0	0	1206	1609	56	0	4608	0	ATRX	23	76937770	Frame_Shift_Del	DEL	T	TCGA-DB-A4XD-01A-11D-A27K-08	28093	76937770	78332790	46	1505											
ATRX	546	broad.mit.edu	37	X	76940500	76940500	+	Splice_Site	SNP	T	T	C			TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chrX:76940500T>C	ENST00000373344.5	-	8	809		c.e8-2		ATRX_ENST00000395603.3_Splice_Site|ATRX_ENST00000480283.1_Splice_Site	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked						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)	AAAGCAATTCTATTAAAAGAA	0.294			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						5	31					0	0	1	0	0	C	76940500	T	C	76940500	5	2	35	1	0	0	0	0	0	0	1	0	1206	1536	53	3	6997	3	ATRX	23	76940500	Splice_Site	SNP	T	TCGA-DB-A4XD-01A-11D-A27K-08	2730	76940500	78330060	47	1506											
IRS4	8471	broad.mit.edu	37	X	107977802	107977803	+	Frame_Shift_Ins	INS	-	-	C			TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chrX:107977802_107977803insC	ENST00000372129.2	-	1	1848_1849	c.1772_1773insG	c.(1771-1773)ggcfs	p.G591fs		NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	591						plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						CTGAGCCTTTGCCCCCCCCAGA	0.545													7	260	---	---	---	---						C	107977803	-	C	107977802	7	5	35	1	0	1	1	0	0	0	0	0	7886	1306	46	0	2004	0	IRS4	23	107977802	Frame_Shift_Ins	INS	-	TCGA-DB-A4XD-01A-11D-A27K-08	31037302	107977802	47292758	48	1507											
ATP2B3	492	broad.mit.edu	37	X	152813393	152813393	+	Silent	SNP	C	C	T			TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chrX:152813393C>T	ENST00000370186.1	+	7	1343	c.1017C>T	c.(1015-1017)ccC>ccT	p.P339P	ATP2B3_ENST00000359149.3_Silent_p.P353P|ATP2B3_ENST00000370181.2_Silent_p.P339P|ATP2B3_ENST00000393842.1_Silent_p.P339P|ATP2B3_ENST00000263519.4_Silent_p.P353P|ATP2B3_ENST00000349466.2_Silent_p.P353P			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	353					ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCAACGCACCCAAAAAGGAGA	0.592													18	85					0	0	1	0	0	T	152813393	C	T	152813393	2	4	35	1	0	0	0	0	0	0	0	1	1140	581	21	2		2	ATP2B3	23	152813393	Silent	SNP	C	TCGA-DB-A4XD-01A-11D-A27K-08	44835591	152813393	2457167	49	1508											
RNF186	54546	broad.mit.edu	37	1	20141126	20141126	+	Missense_Mutation	SNP	C	C	T	rs41264109		TCGA-DB-A4XE-01A-11D-A27K-08	TCGA-DB-A4XE-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6998fda2-aab1-4175-8606-2df81e5e7114	d4e7fe64-d8f5-4696-8470-f6fb2635b838	g.chr1:20141126C>T	ENST00000375121.2	-	1	645	c.469G>A	c.(469-471)Gcg>Acg	p.A157T	RP11-91K11.2_ENST00000454736.1_RNA	NM_019062.1	NP_061935.1	Q9NXI6	RN186_HUMAN	ring finger protein 186	157						integral to membrane	zinc ion binding			kidney(1)|lung(3)|urinary_tract(1)	5		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00459)|Lung NSC(340;0.00475)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|COAD - Colon adenocarcinoma(152;1.07e-05)|BRCA - Breast invasive adenocarcinoma(304;7.77e-05)|Kidney(64;0.000162)|GBM - Glioblastoma multiforme(114;0.00036)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		AGTAGGTGCGCGGCCAGGCGC	0.612													5	200					0	0	1	0	0	T	20141126	C	T	20141126	3	4	36	1	0	0	0	0	1	0	0	0	13521	768	27	1	218	1	RNF186	1	20141126	Missense_Mutation	SNP	C	TCGA-DB-A4XE-01A-11D-A27K-08		20141126	229109495	1	1509											
HIPK1	204851	broad.mit.edu	37	1	114510515	114510515	+	Missense_Mutation	SNP	C	C	A			TCGA-DB-A4XE-01A-11D-A27K-08	TCGA-DB-A4XE-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6998fda2-aab1-4175-8606-2df81e5e7114	d4e7fe64-d8f5-4696-8470-f6fb2635b838	g.chr1:114510515C>A	ENST00000369558.1	+	12	2741	c.2509C>A	c.(2509-2511)Caa>Aaa	p.Q837K	HIPK1_ENST00000369553.1_Missense_Mutation_p.Q443K|HIPK1_ENST00000406344.1_Missense_Mutation_p.Q443K|HIPK1_ENST00000369561.4_Missense_Mutation_p.Q803K|HIPK1_ENST00000426820.2_Missense_Mutation_p.Q837K|HIPK1_ENST00000369559.4_Missense_Mutation_p.Q837K|HIPK1_ENST00000369554.2_Missense_Mutation_p.Q792K|HIPK1_ENST00000369555.2_Missense_Mutation_p.Q792K|HIPK1_ENST00000340480.4_Missense_Mutation_p.Q463K			Q86Z02	HIPK1_HUMAN	homeodomain interacting protein kinase 1	837					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2)	39	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CAGACAACAACAATCCAGTTC	0.478													18	56					4.63292e-17	5.20022e-17	1	1	0	A	114510515	C	A	114510515	3	1	36	1	0	0	0	0	1	0	0	0	7157	479	17	5	2569	5	HIPK1	1	114510515	Missense_Mutation	SNP	C	TCGA-DB-A4XE-01A-11D-A27K-08	94369389	114510515	134740106	2	1510											
PIK3C2B	5287	broad.mit.edu	37	1	204425080	204425080	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A4XE-01A-11D-A27K-08	TCGA-DB-A4XE-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6998fda2-aab1-4175-8606-2df81e5e7114	d4e7fe64-d8f5-4696-8470-f6fb2635b838	g.chr1:204425080C>T	ENST00000367187.3	-	12	2403	c.1847G>A	c.(1846-1848)cGc>cAc	p.R616H	PIK3C2B_ENST00000496872.1_5'UTR|PIK3C2B_ENST00000424712.2_Missense_Mutation_p.R616H	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	616					cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			GTCATGCTTGCGGCTCCCGGG	0.612													4	104					0	0	1	0	0	T	204425080	C	T	204425080	3	4	36	1	0	0	0	0	1	0	0	0	11958	768	27	1	3149	1	PIK3C2B	1	204425080	Missense_Mutation	SNP	C	TCGA-DB-A4XE-01A-11D-A27K-08	89914565	204425080	44825541	3	1511											
ABCB10	23456	broad.mit.edu	37	1	229683292	229683292	+	Missense_Mutation	SNP	T	T	C			TCGA-DB-A4XE-01A-11D-A27K-08	TCGA-DB-A4XE-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6998fda2-aab1-4175-8606-2df81e5e7114	d4e7fe64-d8f5-4696-8470-f6fb2635b838	g.chr1:229683292T>C	ENST00000344517.4	-	3	917	c.875A>G	c.(874-876)gAt>gGt	p.D292G		NM_012089.2	NP_036221.2	Q9NRK6	ABCBA_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 10	292	ABC transmembrane type-1.					integral to mitochondrial membrane|mitochondrial inner membrane	ATP binding|oligopeptide-transporting ATPase activity			breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)	31	Breast(184;0.143)|Ovarian(103;0.249)	Prostate(94;0.167)				CCTGAGCCCATCTGAGAGGTT	0.567													27	58					0	0	1	0	0	C	229683292	T	C	229683292	3	2	36	1	0	0	0	0	1	0	0	0	41	1435	50	3	1385	3	ABCB10	1	229683292	Missense_Mutation	SNP	T	TCGA-DB-A4XE-01A-11D-A27K-08	25258212	229683292	19567329	4	1512											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-DB-A4XE-01A-11D-A27K-08	TCGA-DB-A4XE-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6998fda2-aab1-4175-8606-2df81e5e7114	d4e7fe64-d8f5-4696-8470-f6fb2635b838	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								35	32					0	0	1	0	0	T	209113112	C	T	209113112	3	4	36	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-DB-A4XE-01A-11D-A27K-08		209113112	34086261	5	1513											
FYCO1	79443	broad.mit.edu	37	3	46009087	46009087	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A4XE-01A-11D-A27K-08	TCGA-DB-A4XE-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6998fda2-aab1-4175-8606-2df81e5e7114	d4e7fe64-d8f5-4696-8470-f6fb2635b838	g.chr3:46009087C>T	ENST00000296137.2	-	8	1944	c.1739G>A	c.(1738-1740)aGt>aAt	p.S580N	FYCO1_ENST00000535325.1_Missense_Mutation_p.S580N	NM_024513.3	NP_078789.2	Q9BQS8	FYCO1_HUMAN	FYVE and coiled-coil domain containing 1	580					transport	integral to membrane	metal ion binding|protein binding			NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		CTCTTGCAGACTGGAGTTCAC	0.632													6	165					0	0	1	0	0	T	46009087	C	T	46009087	3	4	36	1	0	0	0	0	1	0	0	0	6160	565	20	2	2741	2	FYCO1	3	46009087	Missense_Mutation	SNP	C	TCGA-DB-A4XE-01A-11D-A27K-08		46009087	152013343	6	1514											
ROBO2	6092	broad.mit.edu	37	3	77617553	77617553	+	Silent	SNP	C	C	T			TCGA-DB-A4XE-01A-11D-A27K-08	TCGA-DB-A4XE-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6998fda2-aab1-4175-8606-2df81e5e7114	d4e7fe64-d8f5-4696-8470-f6fb2635b838	g.chr3:77617553C>T	ENST00000461745.1	+	13	2839	c.1939C>T	c.(1939-1941)Ctg>Ttg	p.L647L	ROBO2_ENST00000487694.3_Silent_p.L663L|ROBO2_ENST00000332191.8_Silent_p.L647L	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	647	Fibronectin type-III 2.				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		TCCAGTTGTGCTGACTCCCAC	0.468													34	67					0	0	1	0	0	T	77617553	C	T	77617553	2	4	36	1	0	0	0	0	0	0	0	1	13566	796	28	2		2	ROBO2	3	77617553	Silent	SNP	C	TCGA-DB-A4XE-01A-11D-A27K-08	31608466	77617553	120404877	7	1515											
ARHGAP31	57514	broad.mit.edu	37	3	119132892	119132892	+	Missense_Mutation	SNP	T	T	G			TCGA-DB-A4XE-01A-11D-A27K-08	TCGA-DB-A4XE-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6998fda2-aab1-4175-8606-2df81e5e7114	d4e7fe64-d8f5-4696-8470-f6fb2635b838	g.chr3:119132892T>G	ENST00000264245.4	+	12	2648	c.2116T>G	c.(2116-2118)Tcc>Gcc	p.S706A		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	706	Pro-rich.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						GCCTTGTGGCTCCTTCCCTGC	0.602													49	149					0	0	1	0	0	G	119132892	T	G	119132892	3	3	36	1	0	0	0	0	1	0	0	0	877	1551	54	5	2162	5	ARHGAP31	3	119132892	Missense_Mutation	SNP	T	TCGA-DB-A4XE-01A-11D-A27K-08	41515339	119132892	78889538	8	1516											
GPRIN3	285513	broad.mit.edu	37	4	90170303	90170303	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A4XE-01A-11D-A27K-08	TCGA-DB-A4XE-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6998fda2-aab1-4175-8606-2df81e5e7114	d4e7fe64-d8f5-4696-8470-f6fb2635b838	g.chr4:90170303G>A	ENST00000609438.1	-	2	1477	c.959C>T	c.(958-960)gCg>gTg	p.A320V	GPRIN3_ENST00000333209.4_Missense_Mutation_p.A320V	NM_198281.2	NP_938022.2	Q6ZVF9	GRIN3_HUMAN	GPRIN family member 3									p.A320V(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|prostate(2)|skin(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)		CTGCACCTCCGCATCTTGCCA	0.537													5	113					0	0	1	0	0	A	90170303	G	A	90170303	3	1	36	1	0	0	0	0	1	0	0	0	6772	1087	38	1	1375	1	GPRIN3	4	90170303	Missense_Mutation	SNP	G	TCGA-DB-A4XE-01A-11D-A27K-08		90170303	100983973	9	1517											
F2RL1	2150	broad.mit.edu	37	5	76129526	76129526	+	Missense_Mutation	SNP	G	G	A	rs149001132		TCGA-DB-A4XE-01A-11D-A27K-08	TCGA-DB-A4XE-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6998fda2-aab1-4175-8606-2df81e5e7114	d4e7fe64-d8f5-4696-8470-f6fb2635b838	g.chr5:76129526G>A	ENST00000296677.4	+	2	1300	c.1094G>A	c.(1093-1095)cGc>cAc	p.R365H		NM_005242.4	NP_005233	P55085	PAR2_HUMAN	coagulation factor II (thrombin) receptor-like 1	365					blood coagulation|elevation of cytosolic calcium ion concentration|positive regulation of leukocyte chemotaxis|positive regulation of positive chemotaxis|regulation of blood coagulation	Golgi apparatus|integral to plasma membrane	receptor binding|thrombin receptor activity	p.R365H(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	13		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;7.7e-51)|Epithelial(54;2.77e-45)|all cancers(79;3.47e-41)		CGAAGTGTCCGCACTGTAAAG	0.448													5	306					0	0	1	0	0	A	76129526	G	A	76129526	3	1	36	1	0	0	0	0	1	0	0	0	5372	1087	38	1	1100	1	F2RL1	5	76129526	Missense_Mutation	SNP	G	TCGA-DB-A4XE-01A-11D-A27K-08		76129526	104785734	10	1518											
GABRA6	2559	broad.mit.edu	37	5	161119014	161119014	+	Silent	SNP	A	A	T			TCGA-DB-A4XE-01A-11D-A27K-08	TCGA-DB-A4XE-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6998fda2-aab1-4175-8606-2df81e5e7114	d4e7fe64-d8f5-4696-8470-f6fb2635b838	g.chr5:161119014A>T	ENST00000523217.1	+	8	1106	c.864A>T	c.(862-864)tcA>tcT	p.S288S	GABRA6_ENST00000274545.5_Silent_p.S298S	NM_000811.2	NP_000802.2	Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	298					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	CAAAAGTGTCATATGCCACTG	0.408										TCGA Ovarian(5;0.080)			8	97					0	0	1	0	0	T	161119014	A	T	161119014	2	4	36	1	0	0	0	0	0	0	0	1	6200	204	8	4		4	GABRA6	5	161119014	Silent	SNP	A	TCGA-DB-A4XE-01A-11D-A27K-08	84989488	161119014	19796246	11	1519											
PDLIM7	9260	broad.mit.edu	37	5	176918075	176918075	+	Silent	SNP	C	C	T	rs145886743		TCGA-DB-A4XE-01A-11D-A27K-08	TCGA-DB-A4XE-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6998fda2-aab1-4175-8606-2df81e5e7114	d4e7fe64-d8f5-4696-8470-f6fb2635b838	g.chr5:176918075C>T	ENST00000355841.2	-	6	537	c.471G>A	c.(469-471)ccG>ccA	p.P157P	PDLIM7_ENST00000393551.1_Silent_p.P157P|PDLIM7_ENST00000355572.2_Silent_p.P157P|PDLIM7_ENST00000359895.2_Silent_p.P123P|PDLIM7_ENST00000356618.4_Silent_p.P157P	NM_005451.3	NP_005442.2	Q9NR12	PDLI7_HUMAN	PDZ and LIM domain 7 (enigma)	157					cell differentiation|multicellular organismal development|ossification|receptor-mediated endocytosis	cytoplasm|focal adhesion	protein binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	10	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TCCCCGGCCGCGGCCGCCAGT	0.667													9	16					0	0	1	0	0	T	176918075	C	T	176918075	2	4	36	1	0	0	0	0	0	0	0	1	11731	755	27	1		1	PDLIM7	5	176918075	Silent	SNP	C	TCGA-DB-A4XE-01A-11D-A27K-08	15799061	176918075	3997185	12	1520											
GLI3	2737	broad.mit.edu	37	7	42007295	42007295	+	Missense_Mutation	SNP	T	T	C			TCGA-DB-A4XE-01A-11D-A27K-08	TCGA-DB-A4XE-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6998fda2-aab1-4175-8606-2df81e5e7114	d4e7fe64-d8f5-4696-8470-f6fb2635b838	g.chr7:42007295T>C	ENST00000395925.3	-	14	2414	c.2330A>G	c.(2329-2331)cAc>cGc	p.H777R	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	777					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						TAGTTTTACGTGCTCCATCCA	0.498									Pallister-Hall syndrome;Greig Cephalopolysyndactyly				85	247					0	0	1	0	0	C	42007295	T	C	42007295	3	2	36	1	0	0	0	0	1	0	0	0	6481	1696	59	3	2420	3	GLI3	7	42007295	Missense_Mutation	SNP	T	TCGA-DB-A4XE-01A-11D-A27K-08		42007295	117131368	13	1521											
GNB2	2783	broad.mit.edu	37	7	100276231	100276231	+	Missense_Mutation	SNP	C	C	A			TCGA-DB-A4XE-01A-11D-A27K-08	TCGA-DB-A4XE-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6998fda2-aab1-4175-8606-2df81e5e7114	d4e7fe64-d8f5-4696-8470-f6fb2635b838	g.chr7:100276231C>A	ENST00000303210.4	+	9	1392	c.910C>A	c.(910-912)Cgt>Agt	p.R304S	GNB2_ENST00000436220.1_Missense_Mutation_p.R260S|GNB2_ENST00000393924.1_Missense_Mutation_p.R304S|GNB2_ENST00000393926.1_Missense_Mutation_p.R304S|GNB2_ENST00000419828.1_Missense_Mutation_p.R204S|GNB2_ENST00000424361.1_Missense_Mutation_p.R260S|GNB2_ENST00000427895.1_Missense_Mutation_p.R204S	NM_005273.3	NP_005264.2	P62879	GBB2_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 2	304					cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|synaptic transmission	perinuclear region of cytoplasm|plasma membrane	GTPase activity|GTPase binding|signal transducer activity			endometrium(1)|lung(3)|ovary(2)|prostate(1)	7	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)	Ovarian(593;0.238)				GAAGGGCGACCGTGCAGGTGA	0.632													5	135					1	1	1	1	0	A	100276231	C	A	100276231	3	1	36	1	0	0	0	0	1	0	0	0	6559	652	23	5	940	5	GNB2	7	100276231	Missense_Mutation	SNP	C	TCGA-DB-A4XE-01A-11D-A27K-08	58268936	100276231	58862432	14	1522											
SLC7A2	6542	broad.mit.edu	37	8	17409358	17409358	+	Silent	SNP	C	C	A			TCGA-DB-A4XE-01A-11D-A27K-08	TCGA-DB-A4XE-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6998fda2-aab1-4175-8606-2df81e5e7114	d4e7fe64-d8f5-4696-8470-f6fb2635b838	g.chr8:17409358C>A	ENST00000470360.1	+	8	1155	c.1038C>A	c.(1036-1038)gtC>gtA	p.V346V	SLC7A2_ENST00000494857.1_Silent_p.V306V|SLC7A2_ENST00000004531.10_Silent_p.V346V|SLC7A2_ENST00000398090.3_Silent_p.V346V|SLC7A2_ENST00000522656.1_Silent_p.V306V			P52569	CTR2_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 2	306					cellular amino acid metabolic process|ion transport	cytoplasm|integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	25				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	L-Lysine(DB00123)|L-Ornithine(DB00129)	ATTTTGGGGTCTCTGCAGCTT	0.438													39	86					8.16277e-20	9.55218e-20	1	1	0	A	17409358	C	A	17409358	2	1	36	1	0	0	0	0	0	0	0	1	14752	900	32	4		4	SLC7A2	8	17409358	Silent	SNP	C	TCGA-DB-A4XE-01A-11D-A27K-08		17409358	128954664	15	1523											
GDAP1	54332	broad.mit.edu	37	8	75272416	75272416	+	Missense_Mutation	SNP	C	C	G			TCGA-DB-A4XE-01A-11D-A27K-08	TCGA-DB-A4XE-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6998fda2-aab1-4175-8606-2df81e5e7114	d4e7fe64-d8f5-4696-8470-f6fb2635b838	g.chr8:75272416C>G	ENST00000220822.7	+	3	435	c.355C>G	c.(355-357)Cca>Gca	p.P119A	GDAP1_ENST00000521096.1_3'UTR|GDAP1_ENST00000434412.2_Missense_Mutation_p.P51A	NM_001040875.2|NM_018972.2	NP_001035808.1|NP_061845.2	Q8TB36	GDAP1_HUMAN	ganglioside induced differentiation associated protein 1	119						cytoplasm				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	Breast(64;0.00769)	Myeloproliferative disorder(644;0.0122)	BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.104)|all cancers(69;0.234)			CATGTATTACCCACGGGTACA	0.403													53	32					0	0	1	0	0	G	75272416	C	G	75272416	3	3	36	1	0	0	0	0	1	0	0	0	6348	623	22	5	365	5	GDAP1	8	75272416	Missense_Mutation	SNP	C	TCGA-DB-A4XE-01A-11D-A27K-08	57863058	75272416	71091606	16	1524											
ZNF707	286075	broad.mit.edu	37	8	144776021	144776021	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A4XE-01A-11D-A27K-08	TCGA-DB-A4XE-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6998fda2-aab1-4175-8606-2df81e5e7114	d4e7fe64-d8f5-4696-8470-f6fb2635b838	g.chr8:144776021C>T	ENST00000532205.1	+	8	1336	c.437C>T	c.(436-438)aCg>aTg	p.T146M	ZNF707_ENST00000358656.4_Missense_Mutation_p.T146M|ZNF707_ENST00000532158.1_Missense_Mutation_p.T146M|ZNF707_ENST00000418203.2_Missense_Mutation_p.T146M|ZNF707_ENST00000454097.1_Missense_Mutation_p.T146M			Q96C28	ZN707_HUMAN	zinc finger protein 707	146					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			breast(1)	1	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;5.6e-41)|Epithelial(56;1.02e-39)|all cancers(56;9.65e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			GCCAAGCCCACGGCTTTCCCG	0.647													7	85					0	0	1	0	0	T	144776021	C	T	144776021	3	4	36	1	0	0	0	0	1	0	0	0	18167	536	19	1	451	1	ZNF707	8	144776021	Missense_Mutation	SNP	C	TCGA-DB-A4XE-01A-11D-A27K-08	69503605	144776021	1588001	17	1525											
SPAG8	26206	broad.mit.edu	37	9	35811217	35811217	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A4XE-01A-11D-A27K-08	TCGA-DB-A4XE-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6998fda2-aab1-4175-8606-2df81e5e7114	d4e7fe64-d8f5-4696-8470-f6fb2635b838	g.chr9:35811217G>A	ENST00000340291.2	-	2	950	c.826C>T	c.(826-828)Ccg>Tcg	p.P276S	SPAG8_ENST00000479751.1_5'UTR|SPAG8_ENST00000484764.1_Missense_Mutation_p.P274S|SPAG8_ENST00000396638.2_Missense_Mutation_p.P276S	NM_172312.1	NP_758516.1	Q99932	SPAG8_HUMAN	sperm associated antigen 8	276						acrosomal vesicle|membrane				NS(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)			TGGCCCCGCGGCAAAGTTTCA	0.507													6	363					0	0	1	0	0	A	35811217	G	A	35811217	3	1	36	1	0	0	0	0	1	0	0	0	15040	1203	42	2	906	2	SPAG8	9	35811217	Missense_Mutation	SNP	G	TCGA-DB-A4XE-01A-11D-A27K-08		35811217	105402214	18	1526											
MAPK8	5599	broad.mit.edu	37	10	49618135	49618135	+	Missense_Mutation	SNP	A	A	G			TCGA-DB-A4XE-01A-11D-A27K-08	TCGA-DB-A4XE-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6998fda2-aab1-4175-8606-2df81e5e7114	d4e7fe64-d8f5-4696-8470-f6fb2635b838	g.chr10:49618135A>G	ENST00000374189.1	+	5	555	c.374A>G	c.(373-375)cAt>cGt	p.H125R	MAPK8_ENST00000360332.3_Missense_Mutation_p.H125R|MAPK8_ENST00000395611.3_Missense_Mutation_p.H125R|MAPK8_ENST00000374182.3_Missense_Mutation_p.H125R|MAPK8_ENST00000374174.1_Missense_Mutation_p.H125R			P45983	MK08_HUMAN	mitogen-activated protein kinase 8	125	Protein kinase.				activation of pro-apoptotic gene products|cellular response to mechanical stimulus|induction of apoptosis by intracellular signals|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of apoptosis|negative regulation of protein binding|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of deacetylase activity|regulation of protein localization|regulation of sequence-specific DNA binding transcription factor activity|response to UV|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|histone deacetylase binding|histone deacetylase regulator activity|JUN kinase activity|protein binding			breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(6)|liver(3)|lung(11)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	34		Ovarian(717;0.0221)|Lung SC(717;0.113)|all_neural(218;0.116)		Epithelial(53;3.46e-65)|Lung(62;0.125)		GAGCTAGATCATGAAAGAATG	0.398													17	137					0	0	1	0	0	G	49618135	A	G	49618135	3	3	36	1	0	0	0	0	1	0	0	0	9333	217	8	3	388	3	MAPK8	10	49618135	Missense_Mutation	SNP	A	TCGA-DB-A4XE-01A-11D-A27K-08		49618135	85916612	19	1527											
PNLIPRP1	5407	broad.mit.edu	37	10	118357417	118357417	+	Missense_Mutation	SNP	G	G	T			TCGA-DB-A4XE-01A-11D-A27K-08	TCGA-DB-A4XE-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6998fda2-aab1-4175-8606-2df81e5e7114	d4e7fe64-d8f5-4696-8470-f6fb2635b838	g.chr10:118357417G>T	ENST00000528052.1	+	7	723	c.652G>T	c.(652-654)Gat>Tat	p.D218Y	PNLIPRP1_ENST00000534537.1_Missense_Mutation_p.D218Y|PNLIPRP1_ENST00000358834.4_Missense_Mutation_p.D218Y			P54315	LIPR1_HUMAN	pancreatic lipase-related protein 1	218					lipid metabolic process		calcium ion binding|triglyceride lipase activity			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	38				all cancers(201;0.0161)		TGACTTTGTTGATGTGATTCA	0.483													24	64					1.64293e-13	1.73772e-13	1	1	0	T	118357417	G	T	118357417	3	4	36	1	0	0	0	0	1	0	0	0	12198	1290	45	5	674	5	PNLIPRP1	10	118357417	Missense_Mutation	SNP	G	TCGA-DB-A4XE-01A-11D-A27K-08	68739282	118357417	17177330	20	1528											
MARK2	2011	broad.mit.edu	37	11	63672397	63672397	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A4XE-01A-11D-A27K-08	TCGA-DB-A4XE-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6998fda2-aab1-4175-8606-2df81e5e7114	d4e7fe64-d8f5-4696-8470-f6fb2635b838	g.chr11:63672397C>T	ENST00000402010.2	+	16	2395	c.1816C>T	c.(1816-1818)Cgg>Tgg	p.R606W	MARK2_ENST00000502399.3_Missense_Mutation_p.R605W|MARK2_ENST00000509502.2_Missense_Mutation_p.R572W|MARK2_ENST00000315032.8_Missense_Mutation_p.R606W|MARK2_ENST00000513765.2_Missense_Mutation_p.R573W|MARK2_ENST00000408948.3_Missense_Mutation_p.R518W|MARK2_ENST00000413835.2_Missense_Mutation_p.R552W|MARK2_ENST00000361128.5_Missense_Mutation_p.R552W|MARK2_ENST00000508192.1_Missense_Mutation_p.R551W|MARK2_ENST00000425897.2_Missense_Mutation_p.R526W|MARK2_ENST00000377810.3_Missense_Mutation_p.R518W|MARK2_ENST00000350490.7_Missense_Mutation_p.R551W|MARK2_ENST00000377809.4_Missense_Mutation_p.R606W	NM_001039469.2	NP_001034558.2	Q7KZI7	MARK2_HUMAN	MAP/microtubule affinity-regulating kinase 2	606					cell differentiation|establishment or maintenance of epithelial cell apical/basal polarity|intracellular protein kinase cascade|multicellular organismal development|response to oxidative stress	plasma membrane	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						CCGACAGGTGCGGGACCAGCA	0.647													5	163					0	0	1	0	0	T	63672397	C	T	63672397	3	4	36	1	0	0	0	0	1	0	0	0	9363	759	27	1	1878	1	MARK2	11	63672397	Missense_Mutation	SNP	C	TCGA-DB-A4XE-01A-11D-A27K-08		63672397	71334119	21	1529											
MAML2	84441	broad.mit.edu	37	11	95724824	95724824	+	Missense_Mutation	SNP	G	G	C			TCGA-DB-A4XE-01A-11D-A27K-08	TCGA-DB-A4XE-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6998fda2-aab1-4175-8606-2df81e5e7114	d4e7fe64-d8f5-4696-8470-f6fb2635b838	g.chr11:95724824G>C	ENST00000524717.1	-	3	3487	c.2203C>G	c.(2203-2205)Cca>Gca	p.P735A		NM_032427.1	NP_115803.1	Q8IZL2	MAML2_HUMAN	mastermind-like 2 (Drosophila)	735					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity		CRTC3/MAML2(26)|CRTC1/MAML2(516)	breast(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	43		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)				CCAGTGTTTGGATTTGAGCAG	0.478			T	"MECT1, CRTC3"	salivary gland mucoepidermoid								5	96					0	0	1	0	0	C	95724824	G	C	95724824	3	2	36	1	0	0	0	0	1	0	0	0	9256	1174	41	5	1279	5	MAML2	11	95724824	Missense_Mutation	SNP	G	TCGA-DB-A4XE-01A-11D-A27K-08	32052427	95724824	39281692	22	1530											
LRP6	4040	broad.mit.edu	37	12	12291381	12291381	+	Missense_Mutation	SNP	T	T	A			TCGA-DB-A4XE-01A-11D-A27K-08	TCGA-DB-A4XE-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6998fda2-aab1-4175-8606-2df81e5e7114	d4e7fe64-d8f5-4696-8470-f6fb2635b838	g.chr12:12291381T>A	ENST00000261349.4	-	16	3561	c.3485A>T	c.(3484-3486)aAa>aTa	p.K1162I	LRP6_ENST00000543091.1_Missense_Mutation_p.K1162I|BCL2L14_ENST00000396369.1_Intron	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	1162	Beta-propeller 4.				cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				TTGCTGCTGTTTATCAATCCA	0.423													73	135					0	0	1	0	0	A	12291381	T	A	12291381	3	1	36	1	0	0	0	0	1	0	0	0	9007	1841	64	5	1388	5	LRP6	12	12291381	Missense_Mutation	SNP	T	TCGA-DB-A4XE-01A-11D-A27K-08		12291381	121560514	23	1531											
TUBA3C	7278	broad.mit.edu	37	13	19752464	19752464	+	Silent	SNP	C	C	T	rs142499533		TCGA-DB-A4XE-01A-11D-A27K-08	TCGA-DB-A4XE-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6998fda2-aab1-4175-8606-2df81e5e7114	d4e7fe64-d8f5-4696-8470-f6fb2635b838	g.chr13:19752464C>T	ENST00000400113.3	-	3	401	c.297G>A	c.(295-297)gcG>gcA	p.A99A		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	99					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		AATTATTGGCCGCATCTTCCT	0.522													9	115					0	0	1	0	0	T	19752464	C	T	19752464	2	4	36	1	0	0	0	0	0	0	0	1	16808	639	23	1		1	TUBA3C	13	19752464	Silent	SNP	C	TCGA-DB-A4XE-01A-11D-A27K-08		19752464	95417414	24	1532											
TDP1	55775	broad.mit.edu	37	14	90455299	90455299	+	Silent	SNP	C	C	T			TCGA-DB-A4XE-01A-11D-A27K-08	TCGA-DB-A4XE-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6998fda2-aab1-4175-8606-2df81e5e7114	d4e7fe64-d8f5-4696-8470-f6fb2635b838	g.chr14:90455299C>T	ENST00000335725.4	+	11	1432	c.1182C>T	c.(1180-1182)gtC>gtT	p.V394V	TDP1_ENST00000393454.2_Silent_p.V394V|TDP1_ENST00000393452.3_Silent_p.V394V|TDP1_ENST00000555880.1_Silent_p.V394V|TDP1_ENST00000357382.3_Silent_p.V155V	NM_018319.3	NP_060789.2	Q9NUW8	TYDP1_HUMAN	tyrosyl-DNA phosphodiesterase 1	394					cell death|double-strand break repair|single strand break repair	cytoplasm|nucleus	3'-tyrosyl-DNA phosphodiesterase activity|double-stranded DNA binding|exonuclease activity|protein binding|single-stranded DNA binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|urinary_tract(1)	25		all_cancers(154;0.185)		COAD - Colon adenocarcinoma(157;0.23)		CCTGGCCTGTCGTAGGTCAGT	0.448								Repair of DNA-protein crosslinks					4	50					0	0	1	0	0	T	90455299	C	T	90455299	2	4	36	1	0	0	0	0	0	0	0	1	15787	871	31	1		1	TDP1	14	90455299	Silent	SNP	C	TCGA-DB-A4XE-01A-11D-A27K-08		90455299	16894241	25	1533											
RPS2	6187	broad.mit.edu	37	16	2014319	2014319	+	Missense_Mutation	SNP	G	G	C			TCGA-DB-A4XE-01A-11D-A27K-08	TCGA-DB-A4XE-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6998fda2-aab1-4175-8606-2df81e5e7114	d4e7fe64-d8f5-4696-8470-f6fb2635b838	g.chr16:2014319G>C	ENST00000343262.4	-	3	281	c.225C>G	c.(223-225)atC>atG	p.I75M	RPS2_ENST00000526522.1_Missense_Mutation_p.I75M|RPS2_ENST00000529806.1_Intron|RPS2_ENST00000530225.1_Missense_Mutation_p.I75M	NM_002952.3	NP_002943.2	P15880	RS2_HUMAN	ribosomal protein S2	75					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleoplasm	fibroblast growth factor 1 binding|fibroblast growth factor 3 binding|RNA binding|structural constituent of ribosome			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|urinary_tract(2)	7						CCAGGGACTTGATCTTCATGT	0.602													26	55					0	0	1	0	0	C	2014319	G	C	2014319	3	2	36	1	0	0	0	0	1	0	0	0	13683	1280	45	5	676	5	RPS2	16	2014319	Missense_Mutation	SNP	G	TCGA-DB-A4XE-01A-11D-A27K-08		2014319	88340434	26	1534											
C16orf45	89927	broad.mit.edu	37	16	15661873	15661873	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A4XE-01A-11D-A27K-08	TCGA-DB-A4XE-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6998fda2-aab1-4175-8606-2df81e5e7114	d4e7fe64-d8f5-4696-8470-f6fb2635b838	g.chr16:15661873G>A	ENST00000300006.4	+	3	623	c.264G>A	c.(262-264)atG>atA	p.M88I	C16orf45_ENST00000561692.1_Missense_Mutation_p.M40I|C16orf45_ENST00000566490.1_Missense_Mutation_p.M88I|C16orf45_ENST00000452191.2_Missense_Mutation_p.M71I	NM_033201.2	NP_149978.1	Q96MC5	CP045_HUMAN	chromosome 16 open reading frame 45	88										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)	11						AGGACATCATGGACTTGAAGC	0.557													15	18					0	0	1	0	0	A	15661873	G	A	15661873	3	1	36	1	0	0	0	0	1	0	0	0	1821	1348	47	2	333	2	C16orf45	16	15661873	Missense_Mutation	SNP	G	TCGA-DB-A4XE-01A-11D-A27K-08	13647554	15661873	74692880	27	1535											
IL27	246778	broad.mit.edu	37	16	28510981	28510981	+	Silent	SNP	G	G	A			TCGA-DB-A4XE-01A-11D-A27K-08	TCGA-DB-A4XE-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6998fda2-aab1-4175-8606-2df81e5e7114	d4e7fe64-d8f5-4696-8470-f6fb2635b838	g.chr16:28510981G>A	ENST00000356897.1	-	5	745	c.723C>T	c.(721-723)ccC>ccT	p.P241P		NM_145659.3	NP_663634.2	Q8NEV9	IL27A_HUMAN	interleukin 27	241					inflammatory response|innate immune response|positive regulation of interferon-gamma biosynthetic process|regulation of defense response to virus|regulation of T cell proliferation|regulation of T-helper 1 cell differentiation	extracellular space	cytokine activity|interleukin-27 receptor binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	10						ATCAGGGCTGGGGGCTCAATG	0.607													3	23					0	0	1	0	0	A	28510981	G	A	28510981	2	1	36	1	0	0	0	0	0	0	0	1	7724	1219	43	2		2	IL27	16	28510981	Silent	SNP	G	TCGA-DB-A4XE-01A-11D-A27K-08	12849108	28510981	61843772	28	1536											
SGSM2	9905	broad.mit.edu	37	17	2282481	2282481	+	Silent	SNP	C	C	A			TCGA-DB-A4XE-01A-11D-A27K-08	TCGA-DB-A4XE-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6998fda2-aab1-4175-8606-2df81e5e7114	d4e7fe64-d8f5-4696-8470-f6fb2635b838	g.chr17:2282481C>A	ENST00000268989.3	+	23	3228	c.3051C>A	c.(3049-3051)atC>atA	p.I1017I	SGSM2_ENST00000426855.2_Silent_p.I972I|SGSM2_ENST00000574563.1_Silent_p.I972I|RP1-59D14.5_ENST00000574290.1_RNA	NM_014853.2	NP_055668.2	O43147	SGSM2_HUMAN	small G protein signaling modulator 2	972						intracellular	Rab GTPase activator activity			biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(2;5.15e-05)|READ - Rectum adenocarcinoma(2;0.000115)		TCACTGACATCATCAAGTTTT	0.582													26	71					7.26314e-15	7.8328e-15	1	1	0	A	2282481	C	A	2282481	2	1	36	1	0	0	0	0	0	0	0	1	14277	816	29	5		5	SGSM2	17	2282481	Silent	SNP	C	TCGA-DB-A4XE-01A-11D-A27K-08		2282481	78912729	29	1537											
TP53	7157	broad.mit.edu	37	17	7577559	7577559	+	Missense_Mutation	SNP	G	G	T	rs28934573		TCGA-DB-A4XE-01A-11D-A27K-08	TCGA-DB-A4XE-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6998fda2-aab1-4175-8606-2df81e5e7114	d4e7fe64-d8f5-4696-8470-f6fb2635b838	g.chr17:7577559G>T	ENST00000420246.2	-	7	854	c.722C>A	c.(721-723)tCc>tAc	p.S241Y	TP53_ENST00000413465.2_Missense_Mutation_p.S241Y|TP53_ENST00000455263.2_Missense_Mutation_p.S241Y|TP53_ENST00000359597.4_Missense_Mutation_p.S241Y|TP53_ENST00000445888.2_Missense_Mutation_p.S241Y|TP53_ENST00000269305.4_Missense_Mutation_p.S241Y	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	241	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		S -> A (in sporadic cancers; somatic mutation).|S -> C (in sporadic cancers; somatic mutation).|S -> F (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934573).|S -> P (in sporadic cancers; somatic mutation).|S -> T (in LFS; germline mutation and in sporadic cancers; somatic mutation).|S -> Y (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.S241F(85)|p.S241C(26)|p.0?(8)|p.S241Y(8)|p.C242fs*5(6)|p.?(5)|p.S241del(5)|p.S148F(4)|p.N239_C242delNSSC(3)|p.N239_C242>S(1)|p.C238fs*21(1)|p.S241fs*22(1)|p.N239_C242del(1)|p.Y236_M243delYMCNSSCM(1)|p.S241_G245delSCMGG(1)|p.S148C(1)|p.N239fs*4(1)|p.C238_M246delCNSSCMGGM(1)|p.H233_C242del10(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)		GCCCATGCAGGAACTGTTACA	0.572		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)			31	43					6.00712e-18	6.88316e-18	1	1	0	T	7577559	G	T	7577559	3	4	36	1	0	0	0	0	1	0	0	0	16442	1174	41	5	568	5	TP53	17	7577559	Missense_Mutation	SNP	G	TCGA-DB-A4XE-01A-11D-A27K-08	5295078	7577559	73617651	30	1538											
TP53	7157	broad.mit.edu	37	17	7579592	7579592	+	Splice_Site	DEL	T	T	-			TCGA-DB-A4XE-01A-11D-A27K-08	TCGA-DB-A4XE-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6998fda2-aab1-4175-8606-2df81e5e7114	d4e7fe64-d8f5-4696-8470-f6fb2635b838	g.chr17:7579592delT	ENST00000420246.2	-	4	229		c.e4-2		TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000269305.4_Splice_Site|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000359597.4_Splice_Site	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53						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.?(15)|p.0?(8)|p.S33fs*10(1)|p.P13fs*18(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)		CAAGGGGGACTGTAGATGGGT	0.597		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)			170	212	---	---	---	---						-	7579592	T	-	7579592	8	5	36	1	0	1	0	1	0	0	1	0	16442	1594	55	0	1207	0	TP53	17	7579592	Splice_Site	DEL	T	TCGA-DB-A4XE-01A-11D-A27K-08	2033	7579592	73615618	31	1539											
BZRAP1	9256	broad.mit.edu	37	17	56393488	56393488	+	Missense_Mutation	SNP	T	T	C			TCGA-DB-A4XE-01A-11D-A27K-08	TCGA-DB-A4XE-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6998fda2-aab1-4175-8606-2df81e5e7114	d4e7fe64-d8f5-4696-8470-f6fb2635b838	g.chr17:56393488T>C	ENST00000355701.3	-	16	2864	c.1994A>G	c.(1993-1995)aAc>aGc	p.N665S	BZRAP1_ENST00000343736.4_Missense_Mutation_p.N665S|BZRAP1_ENST00000268893.6_Missense_Mutation_p.N605S	NM_001261835.1|NM_004758.3	NP_001248764.1|NP_004749.2	O95153	RIMB1_HUMAN	benzodiazapine receptor (peripheral) associated protein 1	665	SH3 1.					mitochondrion	benzodiazepine receptor binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CTCAAAGGGGTTGTAGCTGTT	0.522													6	71					0	0	1	0	0	C	56393488	T	C	56393488	3	2	36	1	0	0	0	0	1	0	0	0	1580	1725	60	3	3643	3	BZRAP1	17	56393488	Missense_Mutation	SNP	T	TCGA-DB-A4XE-01A-11D-A27K-08	48813896	56393488	24801722	32	1540											
EMILIN2	84034	broad.mit.edu	37	18	2891077	2891077	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A4XE-01A-11D-A27K-08	TCGA-DB-A4XE-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6998fda2-aab1-4175-8606-2df81e5e7114	d4e7fe64-d8f5-4696-8470-f6fb2635b838	g.chr18:2891077G>A	ENST00000254528.3	+	4	1111	c.952G>A	c.(952-954)Gtg>Atg	p.V318M		NM_032048.2	NP_114437.2	Q9BXX0	EMIL2_HUMAN	elastin microfibril interfacer 2	318					cell adhesion	collagen	extracellular matrix constituent conferring elasticity|protein binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4)	48				READ - Rectum adenocarcinoma(2;0.1)		CCAAGCCTATGTGGACAGTAA	0.547													96	100					0	0	1	0	0	A	2891077	G	A	2891077	3	1	36	1	0	0	0	0	1	0	0	0	5122	1377	48	2	966	2	EMILIN2	18	2891077	Missense_Mutation	SNP	G	TCGA-DB-A4XE-01A-11D-A27K-08		2891077	75186171	33	1541											
TTR	7276	broad.mit.edu	37	18	29172888	29172888	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A4XE-01A-11D-A27K-08	TCGA-DB-A4XE-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6998fda2-aab1-4175-8606-2df81e5e7114	d4e7fe64-d8f5-4696-8470-f6fb2635b838	g.chr18:29172888G>A	ENST00000237014.3	+	2	276	c.99G>A	c.(97-99)atG>atA	p.M33I		NM_000371.3	NP_000362.1	P02766	TTHY_HUMAN	transthyretin	33			M -> I.		transport	cytoplasm	hormone activity			cervix(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	13			OV - Ovarian serous cystadenocarcinoma(10;0.00523)		Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Diflunisal(DB00861)|Dimethyl sulfoxide(DB01093)|Levothyroxine(DB00451)|Liothyronine(DB00279)	GTCCTCTGATGGTCAAAGTTC	0.483													7	73					0	0	1	0	0	A	29172888	G	A	29172888	3	1	36	1	0	0	0	0	1	0	0	0	16800	1348	47	2	105	2	TTR	18	29172888	Missense_Mutation	SNP	G	TCGA-DB-A4XE-01A-11D-A27K-08	26281811	29172888	48904360	34	1542											
ZNF99	7652	broad.mit.edu	37	19	22939882	22939882	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A4XE-01A-11D-A27K-08	TCGA-DB-A4XE-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6998fda2-aab1-4175-8606-2df81e5e7114	d4e7fe64-d8f5-4696-8470-f6fb2635b838	g.chr19:22939882G>A	ENST00000397104.3	-	6	2448	c.2449C>T	c.(2449-2451)Ctt>Ttt	p.L817F						zinc finger protein 99											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TGTTTCTTAAGGGTTGAGGAA	0.383													4	80					0	0	1	0	0	A	22939882	G	A	22939882	3	1	36	1	0	0	0	0	1	0	0	0	18246	1000	35	2	671	2	ZNF99	19	22939882	Missense_Mutation	SNP	G	TCGA-DB-A4XE-01A-11D-A27K-08		22939882	36189101	35	1543											
ZNF600	162966	broad.mit.edu	37	19	53269553	53269553	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A4XE-01A-11D-A27K-08	TCGA-DB-A4XE-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6998fda2-aab1-4175-8606-2df81e5e7114	d4e7fe64-d8f5-4696-8470-f6fb2635b838	g.chr19:53269553C>T	ENST00000338230.3	-	3	1723	c.1456G>A	c.(1456-1458)Gca>Aca	p.A486T		NM_198457.2	NP_940859	Q6ZNG1	ZN600_HUMAN	zinc finger protein 600	486					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.A486S(1)		breast(2)|endometrium(2)|kidney(4)|large_intestine(9)|liver(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(262;0.0241)|GBM - Glioblastoma multiforme(134;0.0404)		GTATGTTTTGCCAGATAGGAA	0.428													4	182					0	0	1	0	0	T	53269553	C	T	53269553	3	4	36	1	0	0	0	0	1	0	0	0	18087	739	26	2	716	2	ZNF600	19	53269553	Missense_Mutation	SNP	C	TCGA-DB-A4XE-01A-11D-A27K-08	30329671	53269553	5859430	36	1544											
NLGN3	54413	broad.mit.edu	37	X	70367670	70367670	+	Missense_Mutation	SNP	T	T	A			TCGA-DB-A4XE-01A-11D-A27K-08	TCGA-DB-A4XE-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6998fda2-aab1-4175-8606-2df81e5e7114	d4e7fe64-d8f5-4696-8470-f6fb2635b838	g.chrX:70367670T>A	ENST00000374051.3	+	2	393	c.71T>A	c.(70-72)cTc>cAc	p.L24H	NLGN3_ENST00000358741.3_Missense_Mutation_p.L24H|NLGN3_ENST00000536169.1_Missense_Mutation_p.L24H	NM_018977.3	NP_061850.2	Q9NZ94	NLGN3_HUMAN	neuroligin 3	24					neuron cell-cell adhesion|positive regulation of synaptogenesis|receptor-mediated endocytosis|social behavior|synapse assembly	cell surface|endocytic vesicle|integral to plasma membrane|synapse	neurexin binding|receptor activity			biliary_tract(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	37	Renal(35;0.156)					AGCCTGTGCCTCACCCTGTGG	0.662													15	18					0	0	1	0	0	A	70367670	T	A	70367670	3	1	36	1	0	0	0	0	1	0	0	0	10510	1551	54	5	73	5	NLGN3	23	70367670	Missense_Mutation	SNP	T	TCGA-DB-A4XE-01A-11D-A27K-08		70367670	84902890	37	1545											
ATRX	546	broad.mit.edu	37	X	76944338	76944339	+	Frame_Shift_Del	DEL	GT	GT	-			TCGA-DB-A4XE-01A-11D-A27K-08	TCGA-DB-A4XE-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6998fda2-aab1-4175-8606-2df81e5e7114	d4e7fe64-d8f5-4696-8470-f6fb2635b838	g.chrX:76944338_76944339delGT	ENST00000373344.5	-	7	780_781	c.566_567delAC	c.(565-567)cacfs	p.H189fs	ATRX_ENST00000395603.3_Frame_Shift_Del_p.H151fs|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	189	ADD.		Missing (in ATRX).		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)	GCAATGAAGGGTGTCTATAAAT	0.391			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						31	90	---	---	---	---						-	76944339	GT	-	76944338	7	5	36	1	0	1	0	1	0	0	0	0	1206	1252	44	0	7027	0	ATRX	23	76944338	Frame_Shift_Del	DEL	GT	TCGA-DB-A4XE-01A-11D-A27K-08	6576668	76944338	78326222	38	1546											
NRK	203447	broad.mit.edu	37	X	105178375	105178375	+	Missense_Mutation	SNP	T	T	A			TCGA-DB-A4XE-01A-11D-A27K-08	TCGA-DB-A4XE-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6998fda2-aab1-4175-8606-2df81e5e7114	d4e7fe64-d8f5-4696-8470-f6fb2635b838	g.chrX:105178375T>A	ENST00000428173.2	+	20	3744	c.3441T>A	c.(3439-3441)aaT>aaA	p.N1147K	NRK_ENST00000243300.9_Missense_Mutation_p.N1146K			Q7Z2Y5	NRK_HUMAN	Nik related kinase	1146							ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						TTTCTGCCAATCACTCATCTC	0.433										HNSCC(51;0.14)			44	61					0	0	1	0	0	A	105178375	T	A	105178375	3	1	36	1	0	0	0	0	1	0	0	0	10703	1432	50	4	3516	4	NRK	23	105178375	Missense_Mutation	SNP	T	TCGA-DB-A4XE-01A-11D-A27K-08	28234037	105178375	50092185	39	1547											
IDS	3423	broad.mit.edu	37	X	148568542	148568542	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A4XE-01A-11D-A27K-08	TCGA-DB-A4XE-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6998fda2-aab1-4175-8606-2df81e5e7114	d4e7fe64-d8f5-4696-8470-f6fb2635b838	g.chrX:148568542C>T	ENST00000340855.6	-	8	1303	c.1094G>A	c.(1093-1095)gGa>gAa	p.G365E	IDS_ENST00000422081.2_Missense_Mutation_p.G154E|IDS_ENST00000537071.1_Intron|IDS_ENST00000541269.1_Missense_Mutation_p.G154E	NM_000202.5|NM_001166550.1	NP_000193.1|NP_001160022.1	P22304	IDS_HUMAN	iduronate 2-sulfatase	365						lysosome	iduronate-2-sulfatase activity|metal ion binding			NS(1)|breast(3)|endometrium(5)|large_intestine(2)|lung(8)|prostate(1)	20	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					AGCCGTCCTTCCAGGAACATA	0.473													4	69					0	0	1	0	0	T	148568542	C	T	148568542	3	4	36	1	0	0	0	0	1	0	0	0	7547	855	30	2	566	2	IDS	23	148568542	Missense_Mutation	SNP	C	TCGA-DB-A4XE-01A-11D-A27K-08	43390167	148568542	6702018	40	1548											
MAGEA12	4111	broad.mit.edu	37	X	151900225	151900225	+	Missense_Mutation	SNP	G	G	T			TCGA-DB-A4XE-01A-11D-A27K-08	TCGA-DB-A4XE-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6998fda2-aab1-4175-8606-2df81e5e7114	d4e7fe64-d8f5-4696-8470-f6fb2635b838	g.chrX:151900225G>T	ENST00000393900.3	-	3	929	c.576C>A	c.(574-576)gaC>gaA	p.D192E	CSAG4_ENST00000361201.4_RNA|MAGEA12_ENST00000357916.4_Missense_Mutation_p.D192E|MAGEA12_ENST00000393869.3_Missense_Mutation_p.D192E	NM_001166386.1	NP_001159858.1	P43365	MAGAC_HUMAN	melanoma antigen family A, 12	192	MAGE.									breast(5)|large_intestine(5)|liver(1)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					CGATCTGATTGTCGCCCAGCA	0.577													15	225					1.37285e-15	1.51014e-15	1	1	0	T	151900225	G	T	151900225	3	4	36	1	0	0	0	0	1	0	0	0	9212	1368	48	5	372	5	MAGEA12	23	151900225	Missense_Mutation	SNP	G	TCGA-DB-A4XE-01A-11D-A27K-08	3331683	151900225	3370335	41	1549											
EIF3I	8668	broad.mit.edu	37	1	32688225	32688225	+	Silent	SNP	G	G	A			TCGA-DB-A4XF-01A-11D-A27K-08	TCGA-DB-A4XF-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ec49f6-9196-4883-a531-bdf8835be7a0	379dc17f-9fbe-4979-a612-eed92084b79d	g.chr1:32688225G>A	ENST00000373586.1	+	2	162	c.90G>A	c.(88-90)aaG>aaA	p.K30K	EIF3I_ENST00000471486.1_3'UTR	NM_003757.2	NP_003748.1	Q13347	EIF3I_HUMAN	eukaryotic translation initiation factor 3, subunit I	30						cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212)				CTGTGGCCAAGGACCCTGTGA	0.587													39	73					0	0	1	0	0	A	32688225	G	A	32688225	2	1	37	1	0	0	0	0	0	0	0	1	5047	991	35	2		2	EIF3I	1	32688225	Silent	SNP	G	TCGA-DB-A4XF-01A-11D-A27K-08		32688225	216562396	1	1550											
ARHGAP29	9411	broad.mit.edu	37	1	94655635	94655635	+	Missense_Mutation	SNP	G	G	C			TCGA-DB-A4XF-01A-11D-A27K-08	TCGA-DB-A4XF-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ec49f6-9196-4883-a531-bdf8835be7a0	379dc17f-9fbe-4979-a612-eed92084b79d	g.chr1:94655635G>C	ENST00000260526.6	-	13	1468	c.1286C>G	c.(1285-1287)aCa>aGa	p.T429R	ARHGAP29_ENST00000482481.1_5'UTR	NM_004815.3	NP_004806.3	Q52LW3	RHG29_HUMAN	Rho GTPase activating protein 29	429					Rho protein signal transduction	cytosol	metal ion binding|Rho GTPase activator activity			NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		GAGGTTAACTGTTACCTATGG	0.423													5	29					0	0	1	0	0	C	94655635	G	C	94655635	3	2	37	1	0	0	0	0	1	0	0	0	875	1377	48	5	2543	5	ARHGAP29	1	94655635	Missense_Mutation	SNP	G	TCGA-DB-A4XF-01A-11D-A27K-08	61967410	94655635	154594986	2	1551											
RAB3GAP2	25782	broad.mit.edu	37	1	220344243	220344245	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-DB-A4XF-01A-11D-A27K-08	TCGA-DB-A4XF-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ec49f6-9196-4883-a531-bdf8835be7a0	379dc17f-9fbe-4979-a612-eed92084b79d	g.chr1:220344243_220344245delCTT	ENST00000358951.2	-	24	2911_2913	c.2795_2797delAAG	c.(2794-2799)gaagga>gga	p.E932del		NM_012414.3	NP_036546.2	Q9H2M9	RBGPR_HUMAN	RAB3 GTPase activating protein subunit 2 (non-catalytic)	932					intracellular protein transport	cytoplasm|soluble fraction	GTPase activator activity|protein heterodimerization activity			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(131;0.0443)		CCTTTTCCTCCTTCTAATAACTT	0.389													20	41	---	---	---	---						-	220344245	CTT	-	220344243	7	5	37	1	0	1	0	1	0	0	0	0	12988	690	24	0	1432	0	RAB3GAP2	1	220344243	In_Frame_Del	DEL	CTT	TCGA-DB-A4XF-01A-11D-A27K-08	125688608	220344243	28906378	3	1552											
TTC7A	57217	broad.mit.edu	37	2	47233147	47233149	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-DB-A4XF-01A-11D-A27K-08	TCGA-DB-A4XF-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ec49f6-9196-4883-a531-bdf8835be7a0	379dc17f-9fbe-4979-a612-eed92084b79d	g.chr2:47233147_47233149delCCT	ENST00000319190.5	+	9	1520_1522	c.1152_1154delCCT	c.(1150-1155)gacctc>gac	p.L386del	TTC7A_ENST00000263737.6_In_Frame_Del_p.L32del|TTC7A_ENST00000409245.1_In_Frame_Del_p.L352del|TTC7A_ENST00000394850.2_In_Frame_Del_p.L386del|TTC7A_ENST00000461601.1_3'UTR	NM_020458.2	NP_065191.2	Q9ULT0	TTC7A_HUMAN	tetratricopeptide repeat domain 7A	386							binding			breast(4)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)			CCATCTATGACCTCCTGAGCATC	0.626													8	74	---	---	---	---						-	47233149	CCT	-	47233147	7	5	37	1	0	1	0	1	0	0	0	0	16774	506	18	0	1186	0	TTC7A	2	47233147	In_Frame_Del	DEL	CCT	TCGA-DB-A4XF-01A-11D-A27K-08		47233147	195966226	4	1553											
CYP26B1	56603	broad.mit.edu	37	2	72361956	72361956	+	Silent	SNP	G	G	A			TCGA-DB-A4XF-01A-11D-A27K-08	TCGA-DB-A4XF-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ec49f6-9196-4883-a531-bdf8835be7a0	379dc17f-9fbe-4979-a612-eed92084b79d	g.chr2:72361956G>A	ENST00000001146.2	-	4	998	c.795C>T	c.(793-795)gaC>gaT	p.D265D	CYP26B1_ENST00000546307.1_Silent_p.D190D|CYP26B1_ENST00000412253.1_Silent_p.D74D	NM_001277742.1|NM_019885.2	NP_001264671.1|NP_063938.1	Q9NR63	CP26B_HUMAN	cytochrome P450, family 26, subfamily B, polypeptide 1	265					cell fate determination|embryonic limb morphogenesis|male meiosis|negative regulation of retinoic acid receptor signaling pathway|proximal/distal pattern formation|retinoic acid catabolic process|spermatogenesis|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding			breast(1)|kidney(3)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)	28						GGTCCAGGGCGTCCAAGTAGT	0.632													4	74					0	0	1	0	0	A	72361956	G	A	72361956	2	1	37	1	0	0	0	0	0	0	0	1	4179	1136	40	1		1	CYP26B1	2	72361956	Silent	SNP	G	TCGA-DB-A4XF-01A-11D-A27K-08	25128809	72361956	170837417	5	1554											
LONRF2	164832	broad.mit.edu	37	2	100911951	100911951	+	Missense_Mutation	SNP	G	G	C			TCGA-DB-A4XF-01A-11D-A27K-08	TCGA-DB-A4XF-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ec49f6-9196-4883-a531-bdf8835be7a0	379dc17f-9fbe-4979-a612-eed92084b79d	g.chr2:100911951G>C	ENST00000393437.3	-	8	2180	c.1541C>G	c.(1540-1542)cCg>cGg	p.P514R	LONRF2_ENST00000409647.1_Missense_Mutation_p.P271R	NM_198461.3	NP_940863.3	Q1L5Z9	LONF2_HUMAN	LON peptidase N-terminal domain and ring finger 2	514					proteolysis		ATP-dependent peptidase activity|zinc ion binding	p.P514L(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	34						CAATTCATCCGGCAAATATCG	0.343													9	102					0	0	1	0	0	C	100911951	G	C	100911951	3	2	37	1	0	0	0	0	1	0	0	0	8940	1116	39	5	743	5	LONRF2	2	100911951	Missense_Mutation	SNP	G	TCGA-DB-A4XF-01A-11D-A27K-08	28549995	100911951	142287422	6	1555											
TANK	10010	broad.mit.edu	37	2	162036208	162036208	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A4XF-01A-11D-A27K-08	TCGA-DB-A4XF-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ec49f6-9196-4883-a531-bdf8835be7a0	379dc17f-9fbe-4979-a612-eed92084b79d	g.chr2:162036208C>T	ENST00000392749.2	+	2	274	c.35C>T	c.(34-36)gCg>gTg	p.A12V	TANK_ENST00000406287.1_Missense_Mutation_p.A70V|TANK_ENST00000259075.2_Missense_Mutation_p.A12V|TANK_ENST00000403609.1_Missense_Mutation_p.A12V|TANK_ENST00000457476.1_Missense_Mutation_p.A12V|TANK_ENST00000402568.1_Missense_Mutation_p.A70V|TANK_ENST00000405852.1_Missense_Mutation_p.A12V	NM_001199135.1	NP_001186064.1	Q92844	TANK_HUMAN	TRAF family member-associated NFKB activator	12						cytosol	metal ion binding|protein binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)	21						CTCAATAAAGCGTATGAAGCC	0.393													30	36					0	0	1	0	0	T	162036208	C	T	162036208	3	4	37	1	0	0	0	0	1	0	0	0	15603	768	27	1	37	1	TANK	2	162036208	Missense_Mutation	SNP	C	TCGA-DB-A4XF-01A-11D-A27K-08	61124257	162036208	81163165	7	1556											
IDH1	3417	broad.mit.edu	37	2	209113113	209113113	+	Missense_Mutation	SNP	G	G	A	rs121913499		TCGA-DB-A4XF-01A-11D-A27K-08	TCGA-DB-A4XF-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ec49f6-9196-4883-a531-bdf8835be7a0	379dc17f-9fbe-4979-a612-eed92084b79d	g.chr2:209113113G>A	ENST00000415913.1	-	4	775	c.394C>T	c.(394-396)Cgt>Tgt	p.R132C	IDH1_ENST00000446179.1_Missense_Mutation_p.R132C|IDH1_ENST00000345146.2_Missense_Mutation_p.R132C	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		TAAGCATGACGACCTATGATG	0.398			Mis		gliobastoma								30	46					0	0	1	0	0	A	209113113	G	A	209113113	3	1	37	1	0	0	0	0	1	0	0	0	7538	1058	37	1	878	1	IDH1	2	209113113	Missense_Mutation	SNP	G	TCGA-DB-A4XF-01A-11D-A27K-08	47076905	209113113	34086260	8	1557											
SRPRB	58477	broad.mit.edu	37	3	133525498	133525500	+	In_Frame_Del	DEL	TTC	TTC	-			TCGA-DB-A4XF-01A-11D-A27K-08	TCGA-DB-A4XF-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ec49f6-9196-4883-a531-bdf8835be7a0	379dc17f-9fbe-4979-a612-eed92084b79d	g.chr3:133525498_133525500delTTC	ENST00000466490.2	+	3	485_487	c.200_202delTTC	c.(199-204)gttctt>gtt	p.L69del		NM_021203.3	NP_067026.3	Q9Y5M8	SRPRB_HUMAN	signal recognition particle receptor, B subunit	69						endoplasmic reticulum membrane|integral to membrane	GTP binding|protein binding|receptor activity			breast(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|urinary_tract(2)	12						CAGAGAGCTGTTCTTCTTGTTGG	0.399													20	53	---	---	---	---						-	133525500	TTC	-	133525498	7	5	37	1	0	1	0	1	0	0	0	0	15219	1725	60	0	206	0	SRPRB	3	133525498	In_Frame_Del	DEL	TTC	TCGA-DB-A4XF-01A-11D-A27K-08		133525498	64496932	9	1558											
PRMT10	90826	broad.mit.edu	37	4	148575687	148575687	+	Missense_Mutation	SNP	A	A	G			TCGA-DB-A4XF-01A-11D-A27K-08	TCGA-DB-A4XF-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ec49f6-9196-4883-a531-bdf8835be7a0	379dc17f-9fbe-4979-a612-eed92084b79d	g.chr4:148575687A>G	ENST00000322396.6	-	9	1603	c.1361T>C	c.(1360-1362)aTg>aCg	p.M454T	PRMT10_ENST00000541232.1_Missense_Mutation_p.M341T|TMEM184C_ENST00000508208.1_Intron	NM_138364.2	NP_612373.2	Q6P2P2	ANM10_HUMAN	protein arginine methyltransferase 10 (putative)	454						cytoplasm	binding|protein methyltransferase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28						TACTTCCATCATCACATGGTC	0.358													19	46					0	0	1	0	0	G	148575687	A	G	148575687	3	3	37	1	0	0	0	0	1	0	0	0	12588	217	8	3	1192	3	PRMT10	4	148575687	Missense_Mutation	SNP	A	TCGA-DB-A4XF-01A-11D-A27K-08		148575687	42578589	10	1559											
GIN1	54826	broad.mit.edu	37	5	102440512	102440513	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-DB-A4XF-01A-11D-A27K-08	TCGA-DB-A4XF-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ec49f6-9196-4883-a531-bdf8835be7a0	379dc17f-9fbe-4979-a612-eed92084b79d	g.chr5:102440512_102440513delTG	ENST00000399004.2	-	4	465_466	c.371_372delCA	c.(370-372)acafs	p.T124fs	GIN1_ENST00000508629.1_Frame_Shift_Del_p.T124fs	NM_017676.2	NP_060146.2	Q9NXP7	GIN1_HUMAN	gypsy retrotransposon integrase 1	124					DNA integration		DNA binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(142;3.23e-07)|all_epithelial(76;3.64e-10)|Prostate(80;0.00914)|Ovarian(225;0.0139)|Lung NSC(167;0.0212)|Colorectal(57;0.0249)|all_lung(232;0.0283)		Epithelial(69;3.57e-14)|COAD - Colon adenocarcinoma(37;0.00794)		CTACAATAACTGTATTTTTTGC	0.386													9	60	---	---	---	---						-	102440513	TG	-	102440512	7	5	37	1	0	1	0	1	0	0	0	0	6428	1567	55	0	1216	0	GIN1	5	102440512	Frame_Shift_Del	DEL	TG	TCGA-DB-A4XF-01A-11D-A27K-08		102440512	78474748	11	1560											
MAML1	9794	broad.mit.edu	37	5	179201423	179201423	+	Missense_Mutation	SNP	T	T	C			TCGA-DB-A4XF-01A-11D-A27K-08	TCGA-DB-A4XF-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ec49f6-9196-4883-a531-bdf8835be7a0	379dc17f-9fbe-4979-a612-eed92084b79d	g.chr5:179201423T>C	ENST00000292599.3	+	5	2859	c.2596T>C	c.(2596-2598)Ttc>Ctc	p.F866L	MAML1_ENST00000503050.1_Intron	NM_014757.4	NP_055572.1	Q92585	MAML1_HUMAN	mastermind-like 1 (Drosophila)	866					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	peptide antigen binding|protein kinase binding|transcription coactivator activity			central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	36	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGCCTCCAGTTTCCACATGCA	0.607													28	53					0	0	1	0	0	C	179201423	T	C	179201423	3	2	37	1	0	0	0	0	1	0	0	0	9255	1841	64	3	2614	3	MAML1	5	179201423	Missense_Mutation	SNP	T	TCGA-DB-A4XF-01A-11D-A27K-08	76760911	179201423	1713837	12	1561											
HLA-F	3134	broad.mit.edu	37	6	29694761	29694761	+	Missense_Mutation	SNP	A	A	G			TCGA-DB-A4XF-01A-11D-A27K-08	TCGA-DB-A4XF-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ec49f6-9196-4883-a531-bdf8835be7a0	379dc17f-9fbe-4979-a612-eed92084b79d	g.chr6:29694761A>G	ENST00000440587.2	+	6	1110	c.751A>G	c.(751-753)Agt>Ggt	p.S251G	HLA-F_ENST00000259951.7_Missense_Mutation_p.S380G|HLA-F_ENST00000475996.1_Intron			P30511	HLAF_HUMAN	major histocompatibility complex, class I, F	0	Alpha-3.|Ig-like C1-type.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex	MHC class I receptor activity			cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8						CCGGAGTCACAGTGTCTTGGG	0.512													71	98					0	0	1	0	0	G	29694761	A	G	29694761	3	3	37	1	0	0	0	0	1	0	0	0	7252	188	7	3	1173	3	HLA-F	6	29694761	Missense_Mutation	SNP	A	TCGA-DB-A4XF-01A-11D-A27K-08		29694761	141420306	13	1562											
TRIM55	84675	broad.mit.edu	37	8	67086746	67086746	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A4XF-01A-11D-A27K-08	TCGA-DB-A4XF-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ec49f6-9196-4883-a531-bdf8835be7a0	379dc17f-9fbe-4979-a612-eed92084b79d	g.chr8:67086746C>T	ENST00000315962.4	+	10	1938	c.1565C>T	c.(1564-1566)gCt>gTt	p.A522V	TRIM55_ENST00000353317.5_Missense_Mutation_p.A426V|TRIM55_ENST00000350034.4_Missense_Mutation_p.A215V|TRIM55_ENST00000276573.7_3'UTR	NM_184085.1	NP_908973.1	Q9BYV6	TRI55_HUMAN	tripartite motif containing 55	522						cytoplasm|microtubule|nucleus	signal transducer activity|zinc ion binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	39		Lung NSC(129;0.138)|all_lung(136;0.221)	Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)			CAGGCTGCAGCTCCAGCGAGT	0.478													39	96					0	0	1	0	0	T	67086746	C	T	67086746	3	4	37	1	0	0	0	0	1	0	0	0	16590	797	28	2	1695	2	TRIM55	8	67086746	Missense_Mutation	SNP	C	TCGA-DB-A4XF-01A-11D-A27K-08		67086746	79277276	14	1563											
KIAA1161	57462	broad.mit.edu	37	9	34371509	34371509	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A4XF-01A-11D-A27K-08	TCGA-DB-A4XF-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ec49f6-9196-4883-a531-bdf8835be7a0	379dc17f-9fbe-4979-a612-eed92084b79d	g.chr9:34371509C>T	ENST00000297625.7	-	2	1556	c.1331G>A	c.(1330-1332)cGg>cAg	p.R444Q		NM_020702.3	NP_065753.2	Q6NSJ0	K1161_HUMAN	KIAA1161	478					carbohydrate metabolic process	integral to membrane	hydrolase activity, hydrolyzing O-glycosyl compounds			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.126)		CGGCAGCGGCCGGTAGGTGCT	0.677													10	23					0	0	1	0	0	T	34371509	C	T	34371509	3	4	37	1	0	0	0	0	1	0	0	0	8253	652	23	1	715	1	KIAA1161	9	34371509	Missense_Mutation	SNP	C	TCGA-DB-A4XF-01A-11D-A27K-08		34371509	106841922	15	1564											
CCIN	881	broad.mit.edu	37	9	36170045	36170045	+	Silent	SNP	C	C	A			TCGA-DB-A4XF-01A-11D-A27K-08	TCGA-DB-A4XF-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ec49f6-9196-4883-a531-bdf8835be7a0	379dc17f-9fbe-4979-a612-eed92084b79d	g.chr9:36170045C>A	ENST00000335119.2	+	1	657	c.546C>A	c.(544-546)cgC>cgA	p.R182R		NM_005893.2	NP_005884.2	Q13939	CALI_HUMAN	calicin	182	BACK.				cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton			breast(3)|endometrium(2)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(4)	21			STAD - Stomach adenocarcinoma(86;0.228)			TCTTTGGCCGCCTGCTCCGTG	0.542													23	41					2.39556e-15	2.5393e-15	1	1	0	A	36170045	C	A	36170045	2	1	37	1	0	0	0	0	0	0	0	1	2898	726	26	5		5	CCIN	9	36170045	Silent	SNP	C	TCGA-DB-A4XF-01A-11D-A27K-08	1798536	36170045	105043386	16	1565											
LRRTM3	347731	broad.mit.edu	37	10	68857549	68857549	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A4XF-01A-11D-A27K-08	TCGA-DB-A4XF-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ec49f6-9196-4883-a531-bdf8835be7a0	379dc17f-9fbe-4979-a612-eed92084b79d	g.chr10:68857549G>A	ENST00000361320.4	+	3	2319	c.1741G>A	c.(1741-1743)Gct>Act	p.A581T	CTNNA3_ENST00000373744.4_Intron|CTNNA3_ENST00000433211.2_Intron|LRRTM3_ENST00000485868.1_3'UTR	NM_178011.3	NP_821079.3	Q86VH5	LRRT3_HUMAN	leucine rich repeat transmembrane neuronal 3	581						integral to membrane				breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	41						ACAGCAGCTAGCTTAACTGAG	0.448													4	69					0	0	1	0	0	A	68857549	G	A	68857549	3	1	37	1	0	0	0	0	1	0	0	0	9086	971	34	2	1751	2	LRRTM3	10	68857549	Missense_Mutation	SNP	G	TCGA-DB-A4XF-01A-11D-A27K-08		68857549	66677198	17	1566											
LDLRAD3	143458	broad.mit.edu	37	11	36057651	36057652	+	Splice_Site	DEL	AG	AG	-			TCGA-DB-A4XF-01A-11D-A27K-08	TCGA-DB-A4XF-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ec49f6-9196-4883-a531-bdf8835be7a0	379dc17f-9fbe-4979-a612-eed92084b79d	g.chr11:36057651_36057652delAG	ENST00000315571.5	+	2	67		c.e2-1		LDLRAD3_ENST00000528989.1_Intron|LDLRAD3_ENST00000524419.1_Intron	NM_174902.2	NP_777562.1	Q86YD5	LRAD3_HUMAN	low density lipoprotein receptor class A domain containing 3							integral to membrane	receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(7)|skin(1)	28	all_lung(20;0.089)|Lung NSC(22;0.175)|all_epithelial(35;0.177)	all_hematologic(20;0.124)				TCTCTCTGACAGAGAGCCAGCT	0.574													10	72	---	---	---	---						-	36057652	AG	-	36057651	8	5	37	1	0	1	0	1	0	0	1	0	8746	202	7	0	51	0	LDLRAD3	11	36057651	Splice_Site	DEL	AG	TCGA-DB-A4XF-01A-11D-A27K-08		36057651	98948865	18	1567											
SCN4B	6330	broad.mit.edu	37	11	118014578	118014578	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A4XF-01A-11D-A27K-08	TCGA-DB-A4XF-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ec49f6-9196-4883-a531-bdf8835be7a0	379dc17f-9fbe-4979-a612-eed92084b79d	g.chr11:118014578C>T	ENST00000324727.4	-	3	579	c.433G>A	c.(433-435)Gcc>Acc	p.A145T	SCN4B_ENST00000529878.1_Intron	NM_001142349.1|NM_174934.3	NP_001135821.1|NP_777594.1	Q8IWT1	SCN4B_HUMAN	sodium channel, voltage-gated, type IV, beta subunit	145	Ig-like C2-type.					voltage-gated sodium channel complex	voltage-gated sodium channel activity			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;3.33e-05)|Epithelial(105;0.00126)		AAGATGGTGGCGTGGTGCTGG	0.547													25	35					0	0	1	0	0	T	118014578	C	T	118014578	3	4	37	1	0	0	0	0	1	0	0	0	13975	768	27	1	265	1	SCN4B	11	118014578	Missense_Mutation	SNP	C	TCGA-DB-A4XF-01A-11D-A27K-08	81956927	118014578	16991938	19	1568											
HYOU1	10525	broad.mit.edu	37	11	118919446	118919446	+	Silent	SNP	C	C	T			TCGA-DB-A4XF-01A-11D-A27K-08	TCGA-DB-A4XF-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ec49f6-9196-4883-a531-bdf8835be7a0	379dc17f-9fbe-4979-a612-eed92084b79d	g.chr11:118919446C>T	ENST00000404233.3	-	18	2269	c.2145G>A	c.(2143-2145)aaG>aaA	p.K715K	HYOU1_ENST00000525859.1_Silent_p.K653K|HYOU1_ENST00000543287.1_3'UTR|HYOU1_ENST00000529972.1_Silent_p.K653K	NM_001130991.1|NM_006389.3	NP_001124463.1|NP_006380.1	Q9Y4L1	HYOU1_HUMAN	hypoxia up-regulated 1	715						endoplasmic reticulum lumen	ATP binding|protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(10)|prostate(1)|skin(2)	33	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)|all_hematologic(192;0.207)		BRCA - Breast invasive adenocarcinoma(274;7.78e-05)		ACTGAGCCAGCTTATCCTCTG	0.592													11	114					0	0	1	0	0	T	118919446	C	T	118919446	2	4	37	1	0	0	0	0	0	0	0	1	7514	796	28	2		2	HYOU1	11	118919446	Silent	SNP	C	TCGA-DB-A4XF-01A-11D-A27K-08	904868	118919446	16087070	20	1569											
DUSP16	80824	broad.mit.edu	37	12	12673837	12673840	+	Frame_Shift_Del	DEL	TAAT	TAAT	-			TCGA-DB-A4XF-01A-11D-A27K-08	TCGA-DB-A4XF-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ec49f6-9196-4883-a531-bdf8835be7a0	379dc17f-9fbe-4979-a612-eed92084b79d	g.chr12:12673837_12673840delTAAT	ENST00000228862.2	-	2	824_827	c.193_196delATTA	c.(193-198)attacafs	p.IT65fs	DUSP16_ENST00000298573.4_Frame_Shift_Del_p.IT65fs	NM_030640.2	NP_085143.1	Q9BY84	DUS16_HUMAN	dual specificity phosphatase 16	65	Rhodanese.				inactivation of MAPK activity|MAPK export from nucleus|MAPK phosphatase export from nucleus, leptomycin B sensitive	cytoplasmic membrane-bounded vesicle|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			endometrium(7)|kidney(2)|large_intestine(6)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(3)	26		Prostate(47;0.0687)		BRCA - Breast invasive adenocarcinoma(232;0.0203)		ATGAGCTCTGTAATTAACACTTTG	0.377													7	101	---	---	---	---						-	12673840	TAAT	-	12673837	7	5	37	1	0	1	0	1	0	0	0	0	4842	1638	57	0	1825	0	DUSP16	12	12673837	Frame_Shift_Del	DEL	TAAT	TCGA-DB-A4XF-01A-11D-A27K-08		12673837	121178058	21	1570											
CAND1	55832	broad.mit.edu	37	12	67704094	67704094	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DB-A4XF-01A-11D-A27K-08	TCGA-DB-A4XF-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ec49f6-9196-4883-a531-bdf8835be7a0	379dc17f-9fbe-4979-a612-eed92084b79d	g.chr12:67704094delA	ENST00000545606.1	+	13	3795	c.3358delA	c.(3358-3360)aagfs	p.K1120fs		NM_018448.3	NP_060918.2	Q86VP6	CAND1_HUMAN	cullin-associated and neddylation-dissociated 1	1120					cell differentiation|negative regulation of catalytic activity|protein ubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|ubiquitin ligase complex	protein binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)	35			GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)		TTATGATATTAAGGTAAGATG	0.328													21	26	---	---	---	---						-	67704094	A	-	67704094	7	5	37	1	0	1	0	1	0	0	0	0	2633	363	13	0	3408	0	CAND1	12	67704094	Frame_Shift_Del	DEL	A	TCGA-DB-A4XF-01A-11D-A27K-08	55030257	67704094	66147801	22	1571											
DEPDC4	120863	broad.mit.edu	37	12	100656178	100656178	+	Nonsense_Mutation	SNP	A	A	C			TCGA-DB-A4XF-01A-11D-A27K-08	TCGA-DB-A4XF-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ec49f6-9196-4883-a531-bdf8835be7a0	379dc17f-9fbe-4979-a612-eed92084b79d	g.chr12:100656178A>C	ENST00000416321.1	-	3	566	c.564T>G	c.(562-564)taT>taG	p.Y188*		NM_152317.2	NP_689530.1	Q8N2C3	DEPD4_HUMAN	DEP domain containing 4	188					intracellular signal transduction					NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)|urinary_tract(1)	15						AAATCATTTCATATCCTGGTC	0.279													16	49					0	0	1	0	0	C	100656178	A	C	100656178	4	2	37	1	0	0	0	0	0	1	0	0	4469	224	8	4	332	4	DEPDC4	12	100656178	Nonsense_Mutation	SNP	A	TCGA-DB-A4XF-01A-11D-A27K-08	32952084	100656178	33195717	23	1572											
ANKLE2	23141	broad.mit.edu	37	12	133313477	133313477	+	Splice_Site	SNP	A	A	C			TCGA-DB-A4XF-01A-11D-A27K-08	TCGA-DB-A4XF-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ec49f6-9196-4883-a531-bdf8835be7a0	379dc17f-9fbe-4979-a612-eed92084b79d	g.chr12:133313477A>C	ENST00000539605.1	-	7	8092		c.e7+1		ANKLE2_ENST00000357997.5_Splice_Site|ANKLE2_ENST00000337516.5_Splice_Site			Q86XL3	ANKL2_HUMAN	ankyrin repeat and LEM domain containing 2							cytoplasm|integral to membrane|nuclear envelope				NS(2)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(20)|ovary(1)|urinary_tract(2)	45	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06)		ACAGCAGCTCACCTTGGCTGG	0.622													12	160					0	0	1	0	0	C	133313477	A	C	133313477	5	2	37	1	0	0	0	0	0	0	1	0	629	173	6	5	1245	5	ANKLE2	12	133313477	Splice_Site	SNP	A	TCGA-DB-A4XF-01A-11D-A27K-08	32657299	133313477	538418	24	1573											
OR4Q3	441669	broad.mit.edu	37	14	20215861	20215861	+	Missense_Mutation	SNP	G	G	T			TCGA-DB-A4XF-01A-11D-A27K-08	TCGA-DB-A4XF-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ec49f6-9196-4883-a531-bdf8835be7a0	379dc17f-9fbe-4979-a612-eed92084b79d	g.chr14:20215861G>T	ENST00000331723.1	+	1	275	c.275G>T	c.(274-276)aGc>aTc	p.S92I		NM_172194.1	NP_751944.1	Q8NH05	OR4Q3_HUMAN	olfactory receptor, family 4, subfamily Q, member 3	92					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CAGGGCAAGAGCATCTCTTTT	0.448													6	48					5.9392e-07	6.17211e-07	1	1	0	T	20215861	G	T	20215861	3	4	37	1	0	0	0	0	1	0	0	0	11129	971	34	4	277	4	OR4Q3	14	20215861	Missense_Mutation	SNP	G	TCGA-DB-A4XF-01A-11D-A27K-08		20215861	87133679	25	1574											
SPTB	6710	broad.mit.edu	37	14	65260091	65260091	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A4XF-01A-11D-A27K-08	TCGA-DB-A4XF-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ec49f6-9196-4883-a531-bdf8835be7a0	379dc17f-9fbe-4979-a612-eed92084b79d	g.chr14:65260091G>A	ENST00000389722.3	-	13	2343	c.2290C>T	c.(2290-2292)Cgg>Tgg	p.R764W	SPTB_ENST00000556626.1_Missense_Mutation_p.R764W|SPTB_ENST00000389720.3_Missense_Mutation_p.R764W|SPTB_ENST00000389721.5_Missense_Mutation_p.R764W|SPTB_ENST00000542895.1_Missense_Mutation_p.R764W	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	764					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		GAGAGCAGCCGGTGGGCGTCT	0.612													5	76					0	0	1	0	0	A	65260091	G	A	65260091	3	1	37	1	0	0	0	0	1	0	0	0	15174	1115	39	1	4857	1	SPTB	14	65260091	Missense_Mutation	SNP	G	TCGA-DB-A4XF-01A-11D-A27K-08	45044230	65260091	42089449	26	1575											
BEGAIN	57596	broad.mit.edu	37	14	101004382	101004382	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A4XF-01A-11D-A27K-08	TCGA-DB-A4XF-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ec49f6-9196-4883-a531-bdf8835be7a0	379dc17f-9fbe-4979-a612-eed92084b79d	g.chr14:101004382G>A	ENST00000556751.1	-	5	4918	c.1514C>T	c.(1513-1515)cCg>cTg	p.P505L	BEGAIN_ENST00000443071.2_Missense_Mutation_p.P569L|BEGAIN_ENST00000355173.2_Missense_Mutation_p.P569L			Q9BUH8	BEGIN_HUMAN	brain-enriched guanylate kinase-associated	569						cytoplasm|membrane	protein binding			cervix(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|stomach(1)	14		Melanoma(154;0.212)				ACCAGTCCGCGGAAAGGCCTG	0.687													3	30					0	0	1	0	0	A	101004382	G	A	101004382	3	1	37	1	0	0	0	0	1	0	0	0	1395	1116	39	1	79	1	BEGAIN	14	101004382	Missense_Mutation	SNP	G	TCGA-DB-A4XF-01A-11D-A27K-08	35744291	101004382	6345158	27	1576											
XYLT1	64131	broad.mit.edu	37	16	17235124	17235124	+	Silent	SNP	G	G	A			TCGA-DB-A4XF-01A-11D-A27K-08	TCGA-DB-A4XF-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ec49f6-9196-4883-a531-bdf8835be7a0	379dc17f-9fbe-4979-a612-eed92084b79d	g.chr16:17235124G>A	ENST00000261381.6	-	7	1557	c.1473C>T	c.(1471-1473)ggC>ggT	p.G491G		NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	491					glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity	p.G491G(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						AGTCCGAACCGCCATCCACGG	0.572													8	159					0	0	1	0	0	A	17235124	G	A	17235124	2	1	37	1	0	0	0	0	0	0	0	1	17523	1074	38	1		1	XYLT1	16	17235124	Silent	SNP	G	TCGA-DB-A4XF-01A-11D-A27K-08		17235124	73119629	28	1577											
CCDC135	84229	broad.mit.edu	37	16	57732851	57732851	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A4XF-01A-11D-A27K-08	TCGA-DB-A4XF-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ec49f6-9196-4883-a531-bdf8835be7a0	379dc17f-9fbe-4979-a612-eed92084b79d	g.chr16:57732851C>T	ENST00000360716.3	+	4	514	c.293C>T	c.(292-294)gCa>gTa	p.A98V	CCDC135_ENST00000394337.4_Missense_Mutation_p.A98V|CCDC135_ENST00000336825.8_Missense_Mutation_p.A98V|RP11-405F3.4_ENST00000563062.1_RNA			Q8IY82	CC135_HUMAN	coiled-coil domain containing 135	98						cytoplasm				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						CTGCAGGTGGCAGACAACTTC	0.572													78	156					0	0	1	0	0	T	57732851	C	T	57732851	3	4	37	1	0	0	0	0	1	0	0	0	2787	710	25	2	299	2	CCDC135	16	57732851	Missense_Mutation	SNP	C	TCGA-DB-A4XF-01A-11D-A27K-08	40497727	57732851	32621902	29	1578											
CHMP1A	5119	broad.mit.edu	37	16	89713000	89713000	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A4XF-01A-11D-A27K-08	TCGA-DB-A4XF-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ec49f6-9196-4883-a531-bdf8835be7a0	379dc17f-9fbe-4979-a612-eed92084b79d	g.chr16:89713000C>T	ENST00000253475.5	-	5	616	c.484G>A	c.(484-486)Gcc>Acc	p.A162T	CHMP1A_ENST00000535997.2_Silent_p.L104L|CHMP1A_ENST00000550102.1_Silent_p.L159L|CHMP1A_ENST00000397901.3_Silent_p.L168L	NM_001083314.2	NP_001076783.1	Q9HD42	CHM1A_HUMAN	charged multivesicular body protein 1A	0					cell division|gene silencing|mitotic chromosome condensation|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription by glucose|protein transport|transcription, DNA-dependent|vesicle-mediated transport	condensed nuclear chromosome|early endosome|endomembrane system|endosome membrane|microtubule organizing center|nuclear matrix	metallopeptidase activity|protein domain specific binding|zinc ion binding			endometrium(1)|large_intestine(1)|ovary(1)	3		all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.048)		CGCCCTCGGGCAGCTGGCTGA	0.677													8	11					0	0	1	0	0	T	89713000	C	T	89713000	3	4	37	1	0	0	0	0	1	0	0	0	3374	710	25	2	246	2	CHMP1A	16	89713000	Missense_Mutation	SNP	C	TCGA-DB-A4XF-01A-11D-A27K-08	31980149	89713000	641753	30	1579											
ARRB2	409	broad.mit.edu	37	17	4619841	4619841	+	Missense_Mutation	SNP	A	A	C			TCGA-DB-A4XF-01A-11D-A27K-08	TCGA-DB-A4XF-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ec49f6-9196-4883-a531-bdf8835be7a0	379dc17f-9fbe-4979-a612-eed92084b79d	g.chr17:4619841A>C	ENST00000269260.2	+	5	528	c.295A>C	c.(295-297)Acc>Ccc	p.T99P	ARRB2_ENST00000575877.1_Missense_Mutation_p.T99P|ARRB2_ENST00000572457.1_5'UTR|ARRB2_ENST00000571206.1_5'UTR|ARRB2_ENST00000412477.3_Missense_Mutation_p.T99P|ARRB2_ENST00000574954.1_5'UTR|ARRB2_ENST00000346341.2_Missense_Mutation_p.T84P|ARRB2_ENST00000381488.6_Missense_Mutation_p.T84P	NM_001257328.1|NM_001257330.1|NM_004313.3	NP_001244257.1|NP_001244259.1|NP_004304.1	P32121	ARRB2_HUMAN	arrestin, beta 2	99					cell chemotaxis|desensitization of G-protein coupled receptor protein signaling pathway by arrestin|G-protein coupled receptor internalization|negative regulation of natural killer cell mediated cytotoxicity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|platelet activation|positive regulation of ERK1 and ERK2 cascade|proteasomal ubiquitin-dependent protein catabolic process|protein transport|protein ubiquitination|transcription from RNA polymerase II promoter|transforming growth factor beta receptor signaling pathway	coated pit|cytoplasmic membrane-bounded vesicle|cytosol|nucleus|plasma membrane	angiotensin receptor binding|ubiquitin protein ligase binding			large_intestine(1)|liver(2)|lung(3)|prostate(1)	7						CCGGCCCCCCACCCGCCTGCA	0.682													7	13					0	0	1	0	0	C	4619841	A	C	4619841	3	2	37	1	0	0	0	0	1	0	0	0	980	159	6	5	313	5	ARRB2	17	4619841	Missense_Mutation	SNP	A	TCGA-DB-A4XF-01A-11D-A27K-08		4619841	76575369	31	1580											
TP53	7157	broad.mit.edu	37	17	7578271	7578271	+	Missense_Mutation	SNP	T	T	C			TCGA-DB-A4XF-01A-11D-A27K-08	TCGA-DB-A4XF-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ec49f6-9196-4883-a531-bdf8835be7a0	379dc17f-9fbe-4979-a612-eed92084b79d	g.chr17:7578271T>C	ENST00000420246.2	-	6	710	c.578A>G	c.(577-579)cAt>cGt	p.H193R	TP53_ENST00000269305.4_Missense_Mutation_p.H193R|TP53_ENST00000574684.1_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.H193R|TP53_ENST00000445888.2_Missense_Mutation_p.H193R|TP53_ENST00000413465.2_Missense_Mutation_p.H193R|TP53_ENST00000359597.4_Missense_Mutation_p.H193R	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	193	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in LFS; germline mutation and in sporadic cancers; somatic mutation).|H -> Y (in sporadic cancers; somatic mutation).|QH -> HN (in a sporadic cancer; somatic mutation).|QH -> HY (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.H193R(80)|p.H193L(42)|p.H193P(18)|p.0?(8)|p.?(6)|p.H61R(4)|p.H100R(4)|p.H100L(4)|p.H61L(4)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.H193fs*16(3)|p.P191fs*53(2)|p.H61P(2)|p.H100P(2)|p.A189fs*53(1)|p.P191fs*6(1)|p.H193_I195delHLI(1)|p.P59_E66>Q(1)|p.P191fs*15(1)|p.P98_E105>Q(1)|p.H193_I195>AP(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)		TCGGATAAGATGCTGAGGAGG	0.562		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)			55	12					0	0	1	0	0	C	7578271	T	C	7578271	3	2	37	1	0	0	0	0	1	0	0	0	16442	1464	51	3	716	3	TP53	17	7578271	Missense_Mutation	SNP	T	TCGA-DB-A4XF-01A-11D-A27K-08	2958430	7578271	73616939	32	1581											
MYH10	4628	broad.mit.edu	37	17	8383821	8383821	+	Missense_Mutation	SNP	G	G	A	rs150332952	byFrequency	TCGA-DB-A4XF-01A-11D-A27K-08	TCGA-DB-A4XF-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ec49f6-9196-4883-a531-bdf8835be7a0	379dc17f-9fbe-4979-a612-eed92084b79d	g.chr17:8383821G>A	ENST00000360416.3	-	39	5425	c.5287C>T	c.(5287-5289)Cgg>Tgg	p.R1763W	MYH10_ENST00000396239.1_Missense_Mutation_p.R1753W|NDEL1_ENST00000299734.7_Missense_Mutation_p.R328H|MYH10_ENST00000269243.4_Missense_Mutation_p.R1732W|MYH10_ENST00000379980.4_Missense_Mutation_p.R1748W	NM_001256012.1	NP_001242941.1	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	1732					actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						TCCAGACGCCGCTTCTCATCC	0.632													3	27					0	0	1	0	0	A	8383821	G	A	8383821	3	1	37	1	0	0	0	0	1	0	0	0	10078	1086	38	1	756	1	MYH10	17	8383821	Missense_Mutation	SNP	G	TCGA-DB-A4XF-01A-11D-A27K-08	805550	8383821	72811389	33	1582											
MYH4	4622	broad.mit.edu	37	17	10370053	10370053	+	Missense_Mutation	SNP	C	C	A			TCGA-DB-A4XF-01A-11D-A27K-08	TCGA-DB-A4XF-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ec49f6-9196-4883-a531-bdf8835be7a0	379dc17f-9fbe-4979-a612-eed92084b79d	g.chr17:10370053C>A	ENST00000255381.2	-	3	120	c.10G>T	c.(10-12)Gac>Tac	p.D4Y	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	4	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						ATCTCAGAGTCAGAACTCATG	0.473													5	102					1	1	1	1	0	A	10370053	C	A	10370053	3	1	37	1	0	0	0	0	1	0	0	0	10085	826	29	5	5961	5	MYH4	17	10370053	Missense_Mutation	SNP	C	TCGA-DB-A4XF-01A-11D-A27K-08	1986232	10370053	70825157	34	1583											
MYH3	4621	broad.mit.edu	37	17	10533480	10533480	+	Missense_Mutation	SNP	G	G	T			TCGA-DB-A4XF-01A-11D-A27K-08	TCGA-DB-A4XF-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ec49f6-9196-4883-a531-bdf8835be7a0	379dc17f-9fbe-4979-a612-eed92084b79d	g.chr17:10533480G>T	ENST00000583535.1	-	38	5578	c.5491C>A	c.(5491-5493)Cag>Aag	p.Q1831K	MYH3_ENST00000226209.7_Missense_Mutation_p.Q1831K	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	1831					muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						TTCTTCTTCTGCTCTCCCTCA	0.557													12	325					0.0167234	0.017045	1	1	0	T	10533480	G	T	10533480	3	4	37	1	0	0	0	0	1	0	0	0	10084	1328	46	5	347	5	MYH3	17	10533480	Missense_Mutation	SNP	G	TCGA-DB-A4XF-01A-11D-A27K-08	163427	10533480	70661730	35	1584											
KRTAP17-1	83902	broad.mit.edu	37	17	39471743	39471743	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A4XF-01A-11D-A27K-08	TCGA-DB-A4XF-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ec49f6-9196-4883-a531-bdf8835be7a0	379dc17f-9fbe-4979-a612-eed92084b79d	g.chr17:39471743C>T	ENST00000334202.3	-	1	204	c.160G>A	c.(160-162)Gga>Aga	p.G54R		NM_031964.1	NP_114170.1	Q9BYP8	KR171_HUMAN	keratin associated protein 17-1	54						intermediate filament				haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)	2		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			caagacgatccgcagcagctg	0.697													11	9					0	0	1	0	0	T	39471743	C	T	39471743	3	4	37	1	0	0	0	0	1	0	0	0	8570	661	23	1	161	1	KRTAP17-1	17	39471743	Missense_Mutation	SNP	C	TCGA-DB-A4XF-01A-11D-A27K-08	28938263	39471743	41723467	36	1585											
KRTAP10-6	386674	broad.mit.edu	37	21	46011886	46011886	+	Silent	SNP	G	G	A			TCGA-DB-A4XF-01A-11D-A27K-08	TCGA-DB-A4XF-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ec49f6-9196-4883-a531-bdf8835be7a0	379dc17f-9fbe-4979-a612-eed92084b79d	g.chr21:46011886G>A	ENST00000400368.1	-	1	500	c.480C>T	c.(478-480)tgC>tgT	p.C160C	TSPEAR_ENST00000323084.4_Intron	NM_198688.2	NP_941961.2	P60371	KR106_HUMAN	keratin associated protein 10-6	160	29 X 5 AA repeats of C-C-X(3).					keratin filament				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(6)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23						CAGGCTTGCAGCAGACGGGCA	0.627													24	287					0	0	1	0	0	A	46011886	G	A	46011886	2	1	37	1	0	0	0	0	0	0	0	1	8556	963	34	2		2	KRTAP10-6	21	46011886	Silent	SNP	G	TCGA-DB-A4XF-01A-11D-A27K-08		46011886	2118009	37	1586											
VSIG4	11326	broad.mit.edu	37	X	65253352	65253352	+	Missense_Mutation	SNP	C	C	T	rs141882052	byFrequency	TCGA-DB-A4XF-01A-11D-A27K-08	TCGA-DB-A4XF-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ec49f6-9196-4883-a531-bdf8835be7a0	379dc17f-9fbe-4979-a612-eed92084b79d	g.chrX:65253352C>T	ENST00000455586.2	-	2	502	c.376G>A	c.(376-378)Gtg>Atg	p.V126M	VSIG4_ENST00000374737.4_Missense_Mutation_p.V126M|VSIG4_ENST00000412866.2_Missense_Mutation_p.V126M	NM_001184830.1	NP_001171759.1	Q9Y279	VSIG4_HUMAN	V-set and immunoglobulin domain containing 4	126	Ig-like 1.				complement activation, alternative pathway	integral to membrane	protein binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TTATCTCTCACGACTTGGTTG	0.483													83	131					0	0	1	0	0	T	65253352	C	T	65253352	3	4	37	1	0	0	0	0	1	0	0	0	17285	536	19	1	855	1	VSIG4	23	65253352	Missense_Mutation	SNP	C	TCGA-DB-A4XF-01A-11D-A27K-08		65253352	90017208	38	1587											
ESX1	80712	broad.mit.edu	37	X	103495293	103495293	+	Silent	SNP	G	G	A	rs147779192	byFrequency	TCGA-DB-A4XF-01A-11D-A27K-08	TCGA-DB-A4XF-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ec49f6-9196-4883-a531-bdf8835be7a0	379dc17f-9fbe-4979-a612-eed92084b79d	g.chrX:103495293G>A	ENST00000372588.4	-	4	920	c.837C>T	c.(835-837)ggC>ggT	p.G279G		NM_153448.3	NP_703149.1	Q8N693	ESX1_HUMAN	ESX homeobox 1	279	15 X 9 AA tandem repeats of P-P-x-x-P-x- P-P-x.				negative regulation of transcription, DNA-dependent|regulation of cell cycle	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(10)|lung(12)|ovary(1)|skin(2)	27						CCATGCGTGAGCCGGGTGGCA	0.716													6	121					0	0	1	0	0	A	103495293	G	A	103495293	2	1	37	1	0	0	0	0	0	0	0	1	5291	958	34	2		2	ESX1	23	103495293	Silent	SNP	G	TCGA-DB-A4XF-01A-11D-A27K-08	38241941	103495293	51775267	39	1588											
NRK	203447	broad.mit.edu	37	X	105167230	105167230	+	Missense_Mutation	SNP	A	A	T			TCGA-DB-A4XF-01A-11D-A27K-08	TCGA-DB-A4XF-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ec49f6-9196-4883-a531-bdf8835be7a0	379dc17f-9fbe-4979-a612-eed92084b79d	g.chrX:105167230A>T	ENST00000428173.2	+	18	3037	c.2734A>T	c.(2734-2736)Att>Ttt	p.I912F	NRK_ENST00000243300.9_Missense_Mutation_p.I911F			Q7Z2Y5	NRK_HUMAN	Nik related kinase	911							ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						GGCACCTGTCATTCAGCCACC	0.418										HNSCC(51;0.14)			5	76					0	0	1	0	0	T	105167230	A	T	105167230	3	4	37	1	0	0	0	0	1	0	0	0	10703	217	8	4	2801	4	NRK	23	105167230	Missense_Mutation	SNP	A	TCGA-DB-A4XF-01A-11D-A27K-08	1671937	105167230	50103330	40	1589											
ZCCHC12	170261	broad.mit.edu	37	X	117959414	117959414	+	Silent	SNP	T	T	C			TCGA-DB-A4XF-01A-11D-A27K-08	TCGA-DB-A4XF-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ec49f6-9196-4883-a531-bdf8835be7a0	379dc17f-9fbe-4979-a612-eed92084b79d	g.chrX:117959414T>C	ENST00000310164.2	+	4	714	c.207T>C	c.(205-207)aaT>aaC	p.N69N		NM_173798.2	NP_776159.1	Q6PEW1	ZCH12_HUMAN	zinc finger, CCHC domain containing 12	69					regulation of transcription, DNA-dependent|transcription, DNA-dependent		nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	22						cccaagtcaatggcgtcctgc	0.542													6	152					0	0	1	0	0	C	117959414	T	C	117959414	2	2	37	1	0	0	0	0	0	0	0	1	17640	1461	51	3		3	ZCCHC12	23	117959414	Silent	SNP	T	TCGA-DB-A4XF-01A-11D-A27K-08	12792184	117959414	37311146	41	1590											
F8	2157	broad.mit.edu	37	X	154194745	154194745	+	Silent	SNP	C	C	T			TCGA-DB-A4XF-01A-11D-A27K-08	TCGA-DB-A4XF-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ec49f6-9196-4883-a531-bdf8835be7a0	379dc17f-9fbe-4979-a612-eed92084b79d	g.chrX:154194745C>T	ENST00000360256.4	-	8	1427	c.1227G>A	c.(1225-1227)gaG>gaA	p.E409E	F8_ENST00000483822.1_5'UTR	NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	409	F5/8 type A 2.|Plastocyanin-like 3.		E -> G (in HEMA; severe/moderate; dbSNP:rs28933671).		acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	CCCAGTCCTCCTCTTCAGCAG	0.453													22	45					0	0	1	0	0	T	154194745	C	T	154194745	2	4	37	1	0	0	0	0	0	0	0	1	5378	680	24	2		2	F8	23	154194745	Silent	SNP	C	TCGA-DB-A4XF-01A-11D-A27K-08	36235331	154194745	1075815	42	1591											
GJA4	2701	broad.mit.edu	37	1	35260639	35260639	+	Silent	SNP	C	C	A			TCGA-DB-A4XG-01A-11D-A27K-08	TCGA-DB-A4XG-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	512b5735-cba4-4d39-ba83-00df05dc3ce2	b62dc580-39c1-4ed8-9772-90735574c16c	g.chr1:35260639C>A	ENST00000342280.4	+	2	913	c.825C>A	c.(823-825)tcC>tcA	p.S275S		NM_002060.2	NP_002051.2	P35212	CXA4_HUMAN	gap junction protein, alpha 4, 37kDa	275					cell-cell junction assembly	integral to plasma membrane				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(4)|stomach(1)	14		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				GGCCCTCATCCCCACCATGCC	0.647													3	17					6.4e-05	6.4e-05	1	1	0	A	35260639	C	A	35260639	2	1	38	1	0	0	0	0	0	0	0	1	6445	610	22	5		5	GJA4	1	35260639	Silent	SNP	C	TCGA-DB-A4XG-01A-11D-A27K-08		35260639	213989982	1	1592											
EML4	27436	broad.mit.edu	37	2	42553330	42553330	+	Missense_Mutation	SNP	G	G	T			TCGA-DB-A4XG-01A-11D-A27K-08	TCGA-DB-A4XG-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	512b5735-cba4-4d39-ba83-00df05dc3ce2	b62dc580-39c1-4ed8-9772-90735574c16c	g.chr2:42553330G>T	ENST00000318522.5	+	21	2541	c.2279G>T	c.(2278-2280)cGa>cTa	p.R760L	EML4_ENST00000402711.2_Missense_Mutation_p.R702L|EML4_ENST00000453191.2_Missense_Mutation_p.R24L|EML4_ENST00000401738.3_Missense_Mutation_p.R771L	NM_019063.3	NP_061936	Q9HC35	EMAL4_HUMAN	echinoderm microtubule associated protein like 4	760					microtubule-based process|mitosis	cytoplasm|microtubule	protein binding		EML4/ALK(543)	NS(2)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	12						ATCAGGAATCGATCGGATTGT	0.368			T	ALK	NSCLC								26	118					1.13719e-10	1.31214e-10	1	1	0	T	42553330	G	T	42553330	3	4	38	1	0	0	0	0	1	0	0	0	5127	1058	37	5	2361	5	EML4	2	42553330	Missense_Mutation	SNP	G	TCGA-DB-A4XG-01A-11D-A27K-08		42553330	200646043	2	1593											
LRP2	4036	broad.mit.edu	37	2	170112638	170112638	+	Silent	SNP	C	C	T			TCGA-DB-A4XG-01A-11D-A27K-08	TCGA-DB-A4XG-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	512b5735-cba4-4d39-ba83-00df05dc3ce2	b62dc580-39c1-4ed8-9772-90735574c16c	g.chr2:170112638C>T	ENST00000263816.3	-	19	3033	c.2748G>A	c.(2746-2748)ccG>ccA	p.P916P	LRP2_ENST00000443831.1_Silent_p.P779P	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	916					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	CAAGTCCAAACGGATGTGTCA	0.373													6	51					0	0	1	0	0	T	170112638	C	T	170112638	2	4	38	1	0	0	0	0	0	0	0	1	9001	523	19	1		1	LRP2	2	170112638	Silent	SNP	C	TCGA-DB-A4XG-01A-11D-A27K-08	127559308	170112638	73086735	3	1594											
TNS1	7145	broad.mit.edu	37	2	218712917	218712917	+	Missense_Mutation	SNP	A	A	G			TCGA-DB-A4XG-01A-11D-A27K-08	TCGA-DB-A4XG-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	512b5735-cba4-4d39-ba83-00df05dc3ce2	b62dc580-39c1-4ed8-9772-90735574c16c	g.chr2:218712917A>G	ENST00000171887.4	-	17	2400	c.1948T>C	c.(1948-1950)Tgg>Cgg	p.W650R	TNS1_ENST00000419504.1_Missense_Mutation_p.W650R|TNS1_ENST00000430930.1_Missense_Mutation_p.W650R	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	650						cytoplasm|cytoskeleton|focal adhesion	actin binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		tgctgctgcCACGAATTCAGT	0.642													3	22					0	0	1	0	0	G	218712917	A	G	218712917	3	3	38	1	0	0	0	0	1	0	0	0	16403	159	6	3	3327	3	TNS1	2	218712917	Missense_Mutation	SNP	A	TCGA-DB-A4XG-01A-11D-A27K-08	48600279	218712917	24486456	4	1595											
FGD5	152273	broad.mit.edu	37	3	14922122	14922122	+	Missense_Mutation	SNP	T	T	C			TCGA-DB-A4XG-01A-11D-A27K-08	TCGA-DB-A4XG-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	512b5735-cba4-4d39-ba83-00df05dc3ce2	b62dc580-39c1-4ed8-9772-90735574c16c	g.chr3:14922122T>C	ENST00000285046.5	+	3	2812	c.2702T>C	c.(2701-2703)cTa>cCa	p.L901P	FGD5_ENST00000543601.1_Missense_Mutation_p.L660P	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	901	DH.				actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						CAGGAACTGCTATCTTCAGAG	0.532													34	36					0	0	1	0	0	C	14922122	T	C	14922122	3	2	38	1	0	0	0	0	1	0	0	0	5869	1522	53	3	2712	3	FGD5	3	14922122	Missense_Mutation	SNP	T	TCGA-DB-A4XG-01A-11D-A27K-08		14922122	183100308	5	1596											
PAICS	10606	broad.mit.edu	37	4	57316856	57316857	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-DB-A4XG-01A-11D-A27K-08	TCGA-DB-A4XG-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	512b5735-cba4-4d39-ba83-00df05dc3ce2	b62dc580-39c1-4ed8-9772-90735574c16c	g.chr4:57316856_57316857delAG	ENST00000514888.1	+	7	998_999	c.483_484delAG	c.(481-486)gcagagfs	p.E162fs	PAICS_ENST00000512576.1_Frame_Shift_Del_p.E254fs|PAICS_ENST00000399688.3_Frame_Shift_Del_p.E261fs|PAICS_ENST00000264221.2_Frame_Shift_Del_p.E254fs			P22234	PUR6_HUMAN	phosphoribosylaminoimidazole carboxylase, phosphoribosylaminoimidazole succinocarboxamide synthetase	254	SAICAR synthetase.				'de novo' IMP biosynthetic process|purine base biosynthetic process	cytosol	ATP binding|identical protein binding|phosphoribosylaminoimidazole carboxylase activity|phosphoribosylaminoimidazolesuccinocarboxamide synthase activity			endometrium(1)|kidney(2)|large_intestine(1)|urinary_tract(1)	5	Glioma(25;0.08)|all_neural(26;0.101)				L-Aspartic Acid(DB00128)	AGTGGGTTGCAGAGAGAGTAGA	0.327													3	5	---	---	---	---						-	57316857	AG	-	57316856	7	5	38	1	0	1	0	1	0	0	0	0	11442	175	7	0	806	0	PAICS	4	57316856	Frame_Shift_Del	DEL	AG	TCGA-DB-A4XG-01A-11D-A27K-08		57316856	133837420	6	1597											
NIPBL	25836	broad.mit.edu	37	5	37022199	37022199	+	Missense_Mutation	SNP	C	C	A			TCGA-DB-A4XG-01A-11D-A27K-08	TCGA-DB-A4XG-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	512b5735-cba4-4d39-ba83-00df05dc3ce2	b62dc580-39c1-4ed8-9772-90735574c16c	g.chr5:37022199C>A	ENST00000282516.8	+	28	5874	c.5375C>A	c.(5374-5376)gCc>gAc	p.A1792D	NIPBL_ENST00000448238.2_Missense_Mutation_p.A1792D	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	1792					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			CGAACAAAAGCCATGAAGTGT	0.343													13	35					6.31663e-08	6.76781e-08	1	1	0	A	37022199	C	A	37022199	3	1	38	1	0	0	0	0	1	0	0	0	10475	739	26	5	5481	5	NIPBL	5	37022199	Missense_Mutation	SNP	C	TCGA-DB-A4XG-01A-11D-A27K-08		37022199	143893061	7	1598											
SIM1	6492	broad.mit.edu	37	6	100868815	100868815	+	Silent	SNP	G	G	A			TCGA-DB-A4XG-01A-11D-A27K-08	TCGA-DB-A4XG-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	512b5735-cba4-4d39-ba83-00df05dc3ce2	b62dc580-39c1-4ed8-9772-90735574c16c	g.chr6:100868815G>A	ENST00000369208.3	-	10	1800	c.1018C>T	c.(1018-1020)Ctg>Ttg	p.L340L	SIM1_ENST00000262901.4_Silent_p.L340L			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	340	Single-minded C-terminal.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		GAGAGCTGCAGCCCTTTGTAT	0.507													11	22					0	0	1	0	0	A	100868815	G	A	100868815	2	1	38	1	0	0	0	0	0	0	0	1	14378	962	34	2		2	SIM1	6	100868815	Silent	SNP	G	TCGA-DB-A4XG-01A-11D-A27K-08		100868815	70246252	8	1599											
STX11	8676	broad.mit.edu	37	6	144508431	144508431	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A4XG-01A-11D-A27K-08	TCGA-DB-A4XG-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	512b5735-cba4-4d39-ba83-00df05dc3ce2	b62dc580-39c1-4ed8-9772-90735574c16c	g.chr6:144508431G>A	ENST00000367568.4	+	2	850	c.667G>A	c.(667-669)Gac>Aac	p.D223N		NM_003764.3	NP_003755.2	O75558	STX11_HUMAN	syntaxin 11	223	t-SNARE coiled-coil homology.				cellular membrane fusion|intracellular protein transport|vesicle-mediated transport	Golgi apparatus|membrane	SNAP receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	12				OV - Ovarian serous cystadenocarcinoma(155;2.17e-06)|GBM - Glioblastoma multiforme(68;0.0492)		CCGCATCCGCGACGTACACGA	0.632									Familial Hemophagocytic Lymphohistiocytosis				6	72					0	0	1	0	0	A	144508431	G	A	144508431	3	1	38	1	0	0	0	0	1	0	0	0	15393	1058	37	1	669	1	STX11	6	144508431	Missense_Mutation	SNP	G	TCGA-DB-A4XG-01A-11D-A27K-08	43639616	144508431	26606636	9	1600											
ANKIB1	54467	broad.mit.edu	37	7	91981897	91981897	+	Silent	SNP	C	C	T			TCGA-DB-A4XG-01A-11D-A27K-08	TCGA-DB-A4XG-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	512b5735-cba4-4d39-ba83-00df05dc3ce2	b62dc580-39c1-4ed8-9772-90735574c16c	g.chr7:91981897C>T	ENST00000265742.3	+	9	1714	c.1338C>T	c.(1336-1338)ctC>ctT	p.L446L		NM_019004.1	NP_061877.1	Q9P2G1	AKIB1_HUMAN	ankyrin repeat and IBR domain containing 1	446							protein binding|zinc ion binding			cervix(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(19)|skin(1)	41	all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			CTGATACACTCAGCTTCCCAT	0.433													147	166					0	0	1	0	0	T	91981897	C	T	91981897	2	4	38	1	0	0	0	0	0	0	0	1	626	813	29	2		2	ANKIB1	7	91981897	Silent	SNP	C	TCGA-DB-A4XG-01A-11D-A27K-08		91981897	67156766	10	1601											
ZCWPW1	55063	broad.mit.edu	37	7	100014771	100014773	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-DB-A4XG-01A-11D-A27K-08	TCGA-DB-A4XG-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	512b5735-cba4-4d39-ba83-00df05dc3ce2	b62dc580-39c1-4ed8-9772-90735574c16c	g.chr7:100014771_100014773delAAG	ENST00000398027.2	-	6	642_644	c.395_397delCTT	c.(394-399)tcttgt>tgt	p.S132del	ZCWPW1_ENST00000360951.4_In_Frame_Del_p.S132del|ZCWPW1_ENST00000490721.1_In_Frame_Del_p.S11del|ZCWPW1_ENST00000324725.6_In_Frame_Del_p.S11del	NM_017984.4	NP_060454.3	Q9H0M4	ZCPW1_HUMAN	zinc finger, CW type with PWWP domain 1	132							zinc ion binding			breast(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GGCTGGGCACAAGAAGTCTCTGC	0.419													22	80	---	---	---	---						-	100014773	AAG	-	100014771	7	5	38	1	0	1	0	1	0	0	0	0	17655	130	5	0	1601	0	ZCWPW1	7	100014771	In_Frame_Del	DEL	AAG	TCGA-DB-A4XG-01A-11D-A27K-08	8032874	100014771	59123892	11	1602											
EPHB6	2051	broad.mit.edu	37	7	142562309	142562309	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DB-A4XG-01A-11D-A27K-08	TCGA-DB-A4XG-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	512b5735-cba4-4d39-ba83-00df05dc3ce2	b62dc580-39c1-4ed8-9772-90735574c16c	g.chr7:142562309delG	ENST00000392957.2	+	7	1538	c.751delG	c.(751-753)gggfs	p.G252fs	EPHB6_ENST00000411471.2_Intron|EPHB6_ENST00000442129.1_Frame_Shift_Del_p.G252fs	NM_004445.3	NP_004436.3	O15197	EPHB6_HUMAN	EPH receptor B6	252	Cys-rich.					extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					CAGTGGGGCTGGGGGGGCCTC	0.682													7	251	---	---	---	---						-	142562309	G	-	142562309	7	5	38	1	0	1	0	1	0	0	0	0	5206	1348	47	0	761	0	EPHB6	7	142562309	Frame_Shift_Del	DEL	G	TCGA-DB-A4XG-01A-11D-A27K-08	42547538	142562309	16576354	12	1603											
MATN2	4147	broad.mit.edu	37	8	99045826	99045826	+	Missense_Mutation	SNP	T	T	G			TCGA-DB-A4XG-01A-11D-A27K-08	TCGA-DB-A4XG-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	512b5735-cba4-4d39-ba83-00df05dc3ce2	b62dc580-39c1-4ed8-9772-90735574c16c	g.chr8:99045826T>G	ENST00000254898.5	+	18	2985	c.2754T>G	c.(2752-2754)tgT>tgG	p.C918W	MATN2_ENST00000522025.2_Missense_Mutation_p.C634W|MATN2_ENST00000521689.1_Missense_Mutation_p.C899W|MATN2_ENST00000520016.1_Missense_Mutation_p.C918W|MATN2_ENST00000524308.1_Missense_Mutation_p.C877W|RPL30_ENST00000518164.1_Intron	NM_002380.3|NM_030583.2	NP_002371.3|NP_085072.2	O00339	MATN2_HUMAN	matrilin 2	918						proteinaceous extracellular matrix	calcium ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(2)|urinary_tract(1)	31	Breast(36;1.43e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.244)			AATGCAAATGTGAAAACCTTA	0.388													8	9					0	0	1	0	0	G	99045826	T	G	99045826	3	3	38	1	0	0	0	0	1	0	0	0	9384	1702	59	5	2820	5	MATN2	8	99045826	Missense_Mutation	SNP	T	TCGA-DB-A4XG-01A-11D-A27K-08		99045826	47318196	13	1604											
WISP1	8840	broad.mit.edu	37	8	134225313	134225313	+	Silent	SNP	C	C	T			TCGA-DB-A4XG-01A-11D-A27K-08	TCGA-DB-A4XG-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	512b5735-cba4-4d39-ba83-00df05dc3ce2	b62dc580-39c1-4ed8-9772-90735574c16c	g.chr8:134225313C>T	ENST00000250160.6	+	2	382	c.276C>T	c.(274-276)atC>atT	p.I92I	WISP1_ENST00000377863.2_Intron|WISP1_ENST00000519433.1_Intron|WISP1_ENST00000220856.6_Silent_p.I92I|WISP1_ENST00000517423.1_Silent_p.I92I	NM_003882.3	NP_003873.1	O95388	WISP1_HUMAN	WNT1 inducible signaling pathway protein 1	92	IGFBP N-terminal.				cell adhesion|cell-cell signaling|regulation of cell growth|Wnt receptor signaling pathway	extracellular region|soluble fraction	insulin-like growth factor binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	21	all_epithelial(106;5.39e-23)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0107)			AGGCTGCCATCTGTGACCCCC	0.617													49	75					0	0	1	0	0	T	134225313	C	T	134225313	2	4	38	1	0	0	0	0	0	0	0	1	17432	903	32	2		2	WISP1	8	134225313	Silent	SNP	C	TCGA-DB-A4XG-01A-11D-A27K-08	35179487	134225313	12138709	14	1605											
CDK5RAP2	55755	broad.mit.edu	37	9	123342218	123342218	+	Silent	SNP	A	A	G			TCGA-DB-A4XG-01A-11D-A27K-08	TCGA-DB-A4XG-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	512b5735-cba4-4d39-ba83-00df05dc3ce2	b62dc580-39c1-4ed8-9772-90735574c16c	g.chr9:123342218A>G	ENST00000349780.4	-	1	218	c.39T>C	c.(37-39)ccT>ccC	p.P13P	CDK5RAP2_ENST00000359309.3_Silent_p.P13P|CDK5RAP2_ENST00000360190.4_Silent_p.P13P|CDK5RAP2_ENST00000360822.3_Silent_p.P13P	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	13					brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding			breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						TGAGCGTCCCAGGGACGGTGA	0.662													16	46					0	0	1	0	0	G	123342218	A	G	123342218	2	3	38	1	0	0	0	0	0	0	0	1	3168	175	7	3		3	CDK5RAP2	9	123342218	Silent	SNP	A	TCGA-DB-A4XG-01A-11D-A27K-08		123342218	17871213	15	1606											
NOTCH1	4851	broad.mit.edu	37	9	139412278	139412278	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A4XG-01A-11D-A27K-08	TCGA-DB-A4XG-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	512b5735-cba4-4d39-ba83-00df05dc3ce2	b62dc580-39c1-4ed8-9772-90735574c16c	g.chr9:139412278C>T	ENST00000277541.6	-	8	1442	c.1367G>A	c.(1366-1368)tGc>tAc	p.C456Y		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	456	EGF-like 12; calcium-binding (Potential).				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GTTCGAGACGCACTCGTTGAC	0.662			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			67	37					0	0	1	0	0	T	139412278	C	T	139412278	3	4	38	1	0	0	0	0	1	0	0	0	10594	710	25	2	6408	2	NOTCH1	9	139412278	Missense_Mutation	SNP	C	TCGA-DB-A4XG-01A-11D-A27K-08	16070060	139412278	1801153	16	1607											
ZNF503	84858	broad.mit.edu	37	10	77161101	77161106	+	In_Frame_Del	DEL	CCGCCT	CCGCCT	-	rs72126859		TCGA-DB-A4XG-01A-11D-A27K-08	TCGA-DB-A4XG-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	512b5735-cba4-4d39-ba83-00df05dc3ce2	b62dc580-39c1-4ed8-9772-90735574c16c	g.chr10:77161101_77161106delCCGCCT	ENST00000372524.4	-	1	558_563	c.72_77delAGGCGG	c.(70-78)ggaggcggc>ggc	p.24_26GGG>G	ZNF503_ENST00000535216.1_In_Frame_Del_p.24_26GGG>G	NM_032772.4	NP_116161.2	Q96F45	ZN503_HUMAN	zinc finger protein 503	24	Gly-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			lung(4)|ovary(1)|skin(1)	6	all_cancers(46;0.105)|all_epithelial(25;0.00449)|Prostate(51;0.0112)|Ovarian(15;0.088)					GTCTGCAccgccgcctccgcctccgc	0.718													2	4	---	---	---	---						-	77161106	CCGCCT	-	77161101	7	5	38	1	0	1	0	1	0	0	0	0	18008	739	26	0	1871	0	ZNF503	10	77161101	In_Frame_Del	DEL	CCGCCT	TCGA-DB-A4XG-01A-11D-A27K-08		77161101	58373646	17	1608											
MUC5B	727897	broad.mit.edu	37	11	1270406	1270406	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A4XG-01A-11D-A27K-08	TCGA-DB-A4XG-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	512b5735-cba4-4d39-ba83-00df05dc3ce2	b62dc580-39c1-4ed8-9772-90735574c16c	g.chr11:1270406C>T	ENST00000447027.1	+	31	12363	c.12305C>T	c.(12304-12306)aCg>aTg	p.T4102M	MUC5B_ENST00000529681.1_Missense_Mutation_p.T4099M|RP11-532E4.2_ENST00000532061.2_RNA			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4099	7 X Cys-rich subdomain repeats.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		ACCACGGCCACGGCCACACCC	0.701													100	102					0	0	1	0	0	T	1270406	C	T	1270406	3	4	38	1	0	0	0	0	1	0	0	0	10027	536	19	1	12427	1	MUC5B	11	1270406	Missense_Mutation	SNP	C	TCGA-DB-A4XG-01A-11D-A27K-08		1270406	133736110	18	1609											
VPS13C	54832	broad.mit.edu	37	15	62214622	62214622	+	Missense_Mutation	SNP	C	C	A	rs115472982	by1000genomes	TCGA-DB-A4XG-01A-11D-A27K-08	TCGA-DB-A4XG-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	512b5735-cba4-4d39-ba83-00df05dc3ce2	b62dc580-39c1-4ed8-9772-90735574c16c	g.chr15:62214622C>A	ENST00000261517.5	-	54	7022	c.6949G>T	c.(6949-6951)Gct>Tct	p.A2317S	VPS13C_ENST00000249837.3_Missense_Mutation_p.A2274S|VPS13C_ENST00000395896.4_Missense_Mutation_p.A2317S|VPS13C_ENST00000395898.3_Missense_Mutation_p.A2274S	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13 homolog C (S. cerevisiae)	2317					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						GCAACAGCAGCCATTAGAGAA	0.378													17	89					3.41278e-10	3.79198e-10	1	1	0	A	62214622	C	A	62214622	3	1	38	1	0	0	0	0	1	0	0	0	17251	739	26	5	4468	5	VPS13C	15	62214622	Missense_Mutation	SNP	C	TCGA-DB-A4XG-01A-11D-A27K-08		62214622	40316770	19	1610											
HERC1	8925	broad.mit.edu	37	15	63966612	63966612	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A4XG-01A-11D-A27K-08	TCGA-DB-A4XG-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	512b5735-cba4-4d39-ba83-00df05dc3ce2	b62dc580-39c1-4ed8-9772-90735574c16c	g.chr15:63966612G>A	ENST00000443617.2	-	38	7862	c.7775C>T	c.(7774-7776)gCg>gTg	p.A2592V		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	2592					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						CATGGCTTGCGCTCGTTCCAG	0.448													17	50					0	0	1	0	0	A	63966612	G	A	63966612	3	1	38	1	0	0	0	0	1	0	0	0	7098	1087	38	1	6974	1	HERC1	15	63966612	Missense_Mutation	SNP	G	TCGA-DB-A4XG-01A-11D-A27K-08	1751990	63966612	38564780	20	1611											
IDH2	3418	broad.mit.edu	37	15	90631838	90631838	+	Missense_Mutation	SNP	C	C	T	rs121913503		TCGA-DB-A4XG-01A-11D-A27K-08	TCGA-DB-A4XG-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	512b5735-cba4-4d39-ba83-00df05dc3ce2	b62dc580-39c1-4ed8-9772-90735574c16c	g.chr15:90631838C>T	ENST00000330062.3	-	4	628	c.515G>A	c.(514-516)aGg>aAg	p.R172K	IDH2_ENST00000540499.2_Missense_Mutation_p.R120K|IDH2_ENST00000559482.1_Intron|IDH2_ENST00000539790.1_Missense_Mutation_p.R42K	NM_002168.2	NP_002159.2	P48735	IDHP_HUMAN	isocitrate dehydrogenase 2 (NADP+), mitochondrial	172					2-oxoglutarate metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding	p.R172K(116)|p.R172M(21)|p.R172N(1)		biliary_tract(11)|bone(19)|central_nervous_system(107)|endometrium(1)|haematopoietic_and_lymphoid_tissue(953)|large_intestine(8)|lung(5)|skin(5)	1109	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.106)			ATGGGCGTGCCTGCCAATGGT	0.632			M		GBM								51	56					0	0	1	0	0	T	90631838	C	T	90631838	3	4	38	1	0	0	0	0	1	0	0	0	7539	681	24	2	875	2	IDH2	15	90631838	Missense_Mutation	SNP	C	TCGA-DB-A4XG-01A-11D-A27K-08	26665226	90631838	11899554	21	1612											
CDH16	1014	broad.mit.edu	37	16	66950296	66950296	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A4XG-01A-11D-A27K-08	TCGA-DB-A4XG-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	512b5735-cba4-4d39-ba83-00df05dc3ce2	b62dc580-39c1-4ed8-9772-90735574c16c	g.chr16:66950296C>T	ENST00000299752.4	-	4	359	c.166G>A	c.(166-168)Gtg>Atg	p.V56M	CDH16_ENST00000565796.1_Missense_Mutation_p.V56M|CDH16_ENST00000570262.1_Intron|CDH16_ENST00000394055.3_Missense_Mutation_p.V56M|CDH16_ENST00000568632.1_Missense_Mutation_p.V56M	NM_001204744.1|NM_001204745.1|NM_004062.3	NP_001191673.1|NP_001191674.1|NP_004053.1	O75309	CAD16_HUMAN	cadherin 16, KSP-cadherin	56	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)		CCTGACAGCACGATCTGGCCT	0.622													15	23					0	0	1	0	0	T	66950296	C	T	66950296	3	4	38	1	0	0	0	0	1	0	0	0	3123	536	19	1	2383	1	CDH16	16	66950296	Missense_Mutation	SNP	C	TCGA-DB-A4XG-01A-11D-A27K-08		66950296	23404457	22	1613											
SEZ6	124925	broad.mit.edu	37	17	27283247	27283247	+	Missense_Mutation	SNP	C	C	G			TCGA-DB-A4XG-01A-11D-A27K-08	TCGA-DB-A4XG-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	512b5735-cba4-4d39-ba83-00df05dc3ce2	b62dc580-39c1-4ed8-9772-90735574c16c	g.chr17:27283247C>G	ENST00000317338.12	-	16	3310	c.2882G>C	c.(2881-2883)cGc>cCc	p.R961P	SEZ6_ENST00000335960.6_Silent_p.P493P|SEZ6_ENST00000442608.3_Missense_Mutation_p.R948P|SEZ6_ENST00000360295.9_Missense_Mutation_p.R961P|PIPOX_ENST00000583215.1_Intron			Q53EL9	SEZ6_HUMAN	seizure related 6 homolog (mouse)	961						integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	29	Lung NSC(42;0.0137)		Epithelial(11;4.73e-06)|all cancers(11;2.91e-05)|BRCA - Breast invasive adenocarcinoma(11;8.06e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.111)			ggggcgggggcggggCAGCTG	0.582													4	9					0	0	1	0	0	G	27283247	C	G	27283247	3	3	38	1	0	0	0	0	1	0	0	0	14196	768	27	5	123	5	SEZ6	17	27283247	Missense_Mutation	SNP	C	TCGA-DB-A4XG-01A-11D-A27K-08		27283247	53911963	23	1614											
NF1	4763	broad.mit.edu	37	17	29665752	29665755	+	Frame_Shift_Del	DEL	ACTT	ACTT	-			TCGA-DB-A4XG-01A-11D-A27K-08	TCGA-DB-A4XG-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	512b5735-cba4-4d39-ba83-00df05dc3ce2	b62dc580-39c1-4ed8-9772-90735574c16c	g.chr17:29665752_29665755delACTT	ENST00000358273.4	+	46	7233_7236	c.6850_6853delACTT	c.(6850-6855)acttacfs	p.TY2284fs	NF1_ENST00000444181.2_Frame_Shift_Del_p.TY77fs|NF1_ENST00000356175.3_Frame_Shift_Del_p.TY2263fs|NF1_ENST00000417592.2_Intron	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	2284					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.Y2285fs*5(6)|p.?(3)|p.Y2285fs*16(1)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		AGGACCTGACACTTACAACAGTCA	0.319			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			67	19	---	---	---	---						-	29665755	ACTT	-	29665752	7	5	38	1	0	1	0	1	0	0	0	0	10403	159	6	0	7093	0	NF1	17	29665752	Frame_Shift_Del	DEL	ACTT	TCGA-DB-A4XG-01A-11D-A27K-08	2382505	29665752	51529458	24	1615											
SYNRG	11276	broad.mit.edu	37	17	35902548	35902549	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-DB-A4XG-01A-11D-A27K-08	TCGA-DB-A4XG-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	512b5735-cba4-4d39-ba83-00df05dc3ce2	b62dc580-39c1-4ed8-9772-90735574c16c	g.chr17:35902548_35902549delGA	ENST00000339208.6	-	15	2867_2868	c.2727_2728delTC	c.(2725-2730)tctccafs	p.P910fs	SYNRG_ENST00000591288.1_Intron|SYNRG_ENST00000585472.1_Frame_Shift_Del_p.P831fs|SYNRG_ENST00000345615.4_Frame_Shift_Del_p.P832fs|SYNRG_ENST00000346661.4_Frame_Shift_Del_p.P910fs|SYNRG_ENST00000502449.2_Intron|SYNRG_ENST00000394378.2_Frame_Shift_Del_p.P832fs	NM_001163544.1|NM_001163545.1|NM_007247.4	NP_001157016.1|NP_001157017.1|NP_009178.3	Q9UMZ2	SYNRG_HUMAN	synergin, gamma	910					endocytosis|intracellular protein transport	AP-1 adaptor complex	calcium ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						AGGACAAATGGAGAGAGTTTTC	0.455													21	98	---	---	---	---						-	35902549	GA	-	35902548	7	5	38	1	0	1	0	1	0	0	0	0	15517	1174	41	0	1321	0	SYNRG	17	35902548	Frame_Shift_Del	DEL	GA	TCGA-DB-A4XG-01A-11D-A27K-08	6236796	35902548	45292662	25	1616											
C3	718	broad.mit.edu	37	19	6707823	6707823	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A4XG-01A-11D-A27K-08	TCGA-DB-A4XG-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	512b5735-cba4-4d39-ba83-00df05dc3ce2	b62dc580-39c1-4ed8-9772-90735574c16c	g.chr19:6707823C>T	ENST00000245907.6	-	15	2055	c.1963G>A	c.(1963-1965)Gcc>Acc	p.A655T		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	655					complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		GCCCTCTGGGCGGTCTGCTGG	0.672													73	82					0	0	1	0	0	T	6707823	C	T	6707823	3	4	38	1	0	0	0	0	1	0	0	0	2218	768	27	1	3136	1	C3	19	6707823	Missense_Mutation	SNP	C	TCGA-DB-A4XG-01A-11D-A27K-08		6707823	52421160	26	1617											
CD209	30835	broad.mit.edu	37	19	7809893	7809893	+	Silent	SNP	G	G	A	rs61742035		TCGA-DB-A4XG-01A-11D-A27K-08	TCGA-DB-A4XG-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	512b5735-cba4-4d39-ba83-00df05dc3ce2	b62dc580-39c1-4ed8-9772-90735574c16c	g.chr19:7809893G>A	ENST00000315599.7	-	5	856	c.834C>T	c.(832-834)caC>caT	p.H278H	CD209_ENST00000315591.8_Silent_p.H254H|CD209_ENST00000301357.8_Silent_p.H142H|CD209_ENST00000394161.5_Intron|CD209_ENST00000593660.1_Silent_p.H208H|CD209_ENST00000354397.6_Silent_p.H278H|CD209_ENST00000593821.1_Silent_p.H142H|CD209_ENST00000601951.1_Silent_p.H254H|CD209_ENST00000601256.1_Silent_p.H254H|CD209_ENST00000204801.8_Silent_p.H234H|CD209_ENST00000602261.1_Silent_p.H186H|CD209_ENST00000394173.4_Silent_p.H117H	NM_001144895.1|NM_001144897.1|NM_021155.3	NP_001138367.1|NP_001138369.1|NP_066978.1	Q9NNX6	CD209_HUMAN	CD209 molecule	278	C-type lectin.				cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to membrane|plasma membrane	mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding			endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						TGATGGAGTCGTGCCAGTTCC	0.587													45	60					0	0	1	0	0	A	7809893	G	A	7809893	2	1	38	1	0	0	0	0	0	0	0	1	3006	1136	40	1		1	CD209	19	7809893	Silent	SNP	G	TCGA-DB-A4XG-01A-11D-A27K-08	1102070	7809893	51319090	27	1618											
MAP3K15	389840	broad.mit.edu	37	X	19380935	19380938	+	Frame_Shift_Del	DEL	CTCT	CTCT	-			TCGA-DB-A4XG-01A-11D-A27K-08	TCGA-DB-A4XG-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	512b5735-cba4-4d39-ba83-00df05dc3ce2	b62dc580-39c1-4ed8-9772-90735574c16c	g.chrX:19380935_19380938delCTCT	ENST00000338883.4	-	26	3596_3599	c.3597_3600delAGAG	c.(3595-3600)agagagfs	p.RE1199fs	MAP3K15_ENST00000518578.1_5'UTR|MAP3K15_ENST00000359173.3_Frame_Shift_Del_p.RE634fs|MAP3K15_ENST00000469203.2_Frame_Shift_Del_p.RE1031fs	NM_001001671.3	NP_001001671.3	Q6ZN16	M3K15_HUMAN	mitogen-activated protein kinase kinase kinase 15	1199							ATP binding|MAP kinase kinase kinase activity|metal ion binding			NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	Hepatocellular(33;0.183)					GATTCTGGTACTCTCTCTCTTTTT	0.328													26	58	---	---	---	---						-	19380938	CTCT	-	19380935	7	5	38	1	0	1	0	1	0	0	0	0	9299	564	20	0	357	0	MAP3K15	23	19380935	Frame_Shift_Del	DEL	CTCT	TCGA-DB-A4XG-01A-11D-A27K-08		19380935	135889625	28	1619											
POF1B	79983	broad.mit.edu	37	X	84586012	84586012	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A4XG-01A-11D-A27K-08	TCGA-DB-A4XG-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	512b5735-cba4-4d39-ba83-00df05dc3ce2	b62dc580-39c1-4ed8-9772-90735574c16c	g.chrX:84586012C>T	ENST00000262753.4	-	7	942	c.797G>A	c.(796-798)cGt>cAt	p.R266H	POF1B_ENST00000373145.3_Missense_Mutation_p.R266H	NM_024921.3	NP_079197.3	Q8WVV4	POF1B_HUMAN	premature ovarian failure, 1B	266							actin binding			central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)	35						CGTATTCTTACGGCTCAGATC	0.383													26	5					0	0	1	0	0	T	84586012	C	T	84586012	3	4	38	1	0	0	0	0	1	0	0	0	12230	536	19	1	1016	1	POF1B	23	84586012	Missense_Mutation	SNP	C	TCGA-DB-A4XG-01A-11D-A27K-08	65205077	84586012	70684548	29	1620											
COL4A5	1287	broad.mit.edu	37	X	107823773	107823773	+	Missense_Mutation	SNP	G	G	T	rs104886070		TCGA-DB-A4XG-01A-11D-A27K-08	TCGA-DB-A4XG-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	512b5735-cba4-4d39-ba83-00df05dc3ce2	b62dc580-39c1-4ed8-9772-90735574c16c	g.chrX:107823773G>T	ENST00000328300.6	+	14	1035	c.791G>T	c.(790-792)gGt>gTt	p.G264V	COL4A5_ENST00000361603.2_Missense_Mutation_p.G264V	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	264	Triple-helical region.		G -> R (in APSX; adult type).		axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						GGACTTCCTGGTGACCGAGGG	0.428									Alport syndrome with Diffuse Leiomyomatosis				64	5					5.61366e-43	7.01707e-43	1	1	0	T	107823773	G	T	107823773	3	4	38	1	0	0	0	0	1	0	0	0	3717	1261	44	5	845	5	COL4A5	23	107823773	Missense_Mutation	SNP	G	TCGA-DB-A4XG-01A-11D-A27K-08	23237761	107823773	47446787	30	1621											
TAS1R2	80834	broad.mit.edu	37	1	19168269	19168269	+	Silent	SNP	G	G	A			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr1:19168269G>A	ENST00000375371.3	-	5	1566	c.1545C>T	c.(1543-1545)ttC>ttT	p.F515F		NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2	515					detection of chemical stimulus involved in sensory perception of sweet taste	plasma membrane	protein heterodimerization activity|taste receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	CGATGCACTCGAAGCAGCAGA	0.597													24	40					0	0	1	0	0	A	19168269	G	A	19168269	2	1	39	1	0	0	0	0	0	0	0	1	15620	1049	37	1		1	TAS1R2	1	19168269	Silent	SNP	G	TCGA-DB-A4XH-01A-11D-A27K-08		19168269	230082352	1	1622											
MAP7D1	55700	broad.mit.edu	37	1	36645154	36645154	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr1:36645154delC	ENST00000316156.4	+	13	2565	c.2112delC	c.(2110-2112)agcfs	p.S704fs	MAP7D1_ENST00000373148.4_Frame_Shift_Del_p.S278fs|MAP7D1_ENST00000373150.4_Frame_Shift_Del_p.S709fs|MAP7D1_ENST00000373151.2_Frame_Shift_Del_p.S742fs			Q3KQU3	MA7D1_HUMAN	MAP7 domain containing 1	742						cytoplasm|spindle				breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	19		Myeloproliferative disorder(586;0.0393)				ACGGTTCCAGCCCAGGTAAAG	0.617													2	4	---	---	---	---						-	36645154	C	-	36645154	7	5	39	1	0	1	0	1	0	0	0	0	9317	738	26	0	2280	0	MAP7D1	1	36645154	Frame_Shift_Del	DEL	C	TCGA-DB-A4XH-01A-11D-A27K-08	17476885	36645154	212605467	2	1623											
SDHC	6391	broad.mit.edu	37	1	161326623	161326623	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr1:161326623G>A	ENST00000367975.2	+	5	547	c.398G>A	c.(397-399)cGa>cAa	p.R133Q	SDHC_ENST00000513009.1_Intron|SDHC_ENST00000432287.2_Missense_Mutation_p.R99Q|SDHC_ENST00000392169.2_Missense_Mutation_p.R80Q|SDHC_ENST00000342751.4_Intron|SDHC_ENST00000470743.3_3'UTR	NM_003001.3	NP_002992.1	Q99643	C560_HUMAN	succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa	133					respiratory electron transport chain|transport|tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain complex II|plasma membrane succinate dehydrogenase complex	electron carrier activity|heme binding|succinate dehydrogenase activity			urinary_tract(1)	1	all_cancers(52;6.96e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Succinic acid(DB00139)	AATGGGATCCGACACTTGGTA	0.473			"Mis, N, F"			"paraganglioma, pheochromocytoma"			Familial Paragangliomas;Carney-Stratakis syndrome				4	92					0	0	1	0	0	A	161326623	G	A	161326623	3	1	39	1	0	0	0	0	1	0	0	0	14020	1058	37	1	416	1	SDHC	1	161326623	Missense_Mutation	SNP	G	TCGA-DB-A4XH-01A-11D-A27K-08	124681469	161326623	87923998	3	1624											
PARP1	142	broad.mit.edu	37	1	226553702	226553702	+	Missense_Mutation	SNP	T	T	C			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr1:226553702T>C	ENST00000366794.5	-	18	2601	c.2458A>G	c.(2458-2460)Aac>Gac	p.N820D	PARP1_ENST00000490921.1_5'UTR	NM_001618.3	NP_001609.2	P09874	PARP1_HUMAN	poly (ADP-ribose) polymerase 1	820	PARP catalytic.				cellular response to insulin stimulus|protein ADP-ribosylation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nuclear envelope|nucleolus|transcription factor complex	DNA binding|identical protein binding|NAD+ ADP-ribosyltransferase activity|protein N-terminus binding|transcription factor binding|zinc ion binding			breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	44	Breast(184;0.133)			GBM - Glioblastoma multiforme(131;0.0531)		GCATGAGTGTTCTTAACATAC	0.468								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA					5	36					0	0	1	0	0	C	226553702	T	C	226553702	3	2	39	1	0	0	0	0	1	0	0	0	11501	1783	62	3	610	3	PARP1	1	226553702	Missense_Mutation	SNP	T	TCGA-DB-A4XH-01A-11D-A27K-08	65227079	226553702	22696919	4	1625											
ZP4	57829	broad.mit.edu	37	1	238048465	238048465	+	Splice_Site	SNP	C	C	T			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr1:238048465C>T	ENST00000366570.4	-	9	1469	c.1311G>A	c.(1309-1311)ccG>ccA	p.P437P	RP11-193H5.1_ENST00000450451.1_RNA	NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4	437	ZP.				acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity			breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			AACATCCTACCGGTCCCCTGA	0.522													22	42					0	0	1	0	0	T	238048465	C	T	238048465	5	4	39	1	0	0	0	0	0	0	1	0	18260	666	23	1	327	1	ZP4	1	238048465	Splice_Site	SNP	C	TCGA-DB-A4XH-01A-11D-A27K-08	11494763	238048465	11202156	5	1626											
SRBD1	55133	broad.mit.edu	37	2	45774700	45774700	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr2:45774700C>T	ENST00000263736.4	-	13	1789	c.1727G>A	c.(1726-1728)cGa>cAa	p.R576Q	SRBD1_ENST00000535761.1_Missense_Mutation_p.R95Q	NM_018079.4	NP_060549.4	Q8N5C6	SRBD1_HUMAN	S1 RNA binding domain 1	576					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		hydrolase activity, acting on ester bonds|RNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(13)|large_intestine(8)|lung(15)|skin(2)|stomach(1)|urinary_tract(1)	49		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)			CTCCGCCTCTCGGAAGCCTTG	0.333													21	27					0	0	1	0	0	T	45774700	C	T	45774700	3	4	39	1	0	0	0	0	1	0	0	0	15189	884	31	1	1296	1	SRBD1	2	45774700	Missense_Mutation	SNP	C	TCGA-DB-A4XH-01A-11D-A27K-08		45774700	197424673	6	1627											
VAMP5	10791	broad.mit.edu	37	2	85818866	85818866	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr2:85818866C>T	ENST00000306384.4	+	2	105	c.22C>T	c.(22-24)Cgg>Tgg	p.R8W		NM_006634.2	NP_006625.1	O95183	VAMP5_HUMAN	vesicle-associated membrane protein 5	8	v-SNARE coiled-coil homology.				cell differentiation|vesicle-mediated transport	endomembrane system		p.R8W(1)		NS(1)|large_intestine(3)|lung(1)	5						AGAGTTGGAGCGGTGCCAGCA	0.602													10	85					0	0	1	0	0	T	85818866	C	T	85818866	3	4	39	1	0	0	0	0	1	0	0	0	17176	759	27	1	28	1	VAMP5	2	85818866	Missense_Mutation	SNP	C	TCGA-DB-A4XH-01A-11D-A27K-08	40044166	85818866	157380507	7	1628											
SLC9A2	6549	broad.mit.edu	37	2	103281660	103281660	+	Silent	SNP	G	G	A			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr2:103281660G>A	ENST00000233969.2	+	3	997	c.855G>A	c.(853-855)ggG>ggA	p.G285G		NM_003048.3	NP_003039.2	Q9UBY0	SL9A2_HUMAN	solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2	285						integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						GAATCGGTGGGGTGCTGATTG	0.443													61	69					0	0	1	0	0	A	103281660	G	A	103281660	2	1	39	1	0	0	0	0	0	0	0	1	14767	1219	43	2		2	SLC9A2	2	103281660	Silent	SNP	G	TCGA-DB-A4XH-01A-11D-A27K-08	17462794	103281660	139917713	8	1629											
CHRNA1	1134	broad.mit.edu	37	2	175613522	175613522	+	Missense_Mutation	SNP	A	A	G			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr2:175613522A>G	ENST00000348749.5	-	8	1105	c.1028T>C	c.(1027-1029)aTc>aCc	p.I343T	CHRNA1_ENST00000409219.1_Intron|AC018890.6_ENST00000442996.1_RNA|CHRNA1_ENST00000409542.1_Missense_Mutation_p.I261T|CHRNA1_ENST00000261007.5_Missense_Mutation_p.I368T	NM_000079.3	NP_000070.1	P02708	ACHA_HUMAN	cholinergic receptor, nicotinic, alpha 1 (muscle)	368					muscle cell homeostasis|neuromuscular junction development|neuromuscular process|neuromuscular synaptic transmission|neuron homeostasis|regulation of action potential in neuron|skeletal muscle contraction|skeletal muscle tissue growth	cell junction|cell surface|neuromuscular junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(3)|prostate(3)|skin(4)	37						GAAAAACATGATATTTGGGAT	0.348											OREG0015079	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	28	30					0	0	1	0	0	G	175613522	A	G	175613522	3	3	39	1	0	0	0	0	1	0	0	0	3403	333	12	3	353	3	CHRNA1	2	175613522	Missense_Mutation	SNP	A	TCGA-DB-A4XH-01A-11D-A27K-08	72331862	175613522	67585851	9	1630											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								26	36					0	0	1	0	0	T	209113112	C	T	209113112	3	4	39	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-DB-A4XH-01A-11D-A27K-08	33499590	209113112	34086261	10	1631											
PIKFYVE	200576	broad.mit.edu	37	2	209200822	209200823	+	In_Frame_Ins	INS	-	-	GTCTTC			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr2:209200822_209200823insGTCTTC	ENST00000264380.4	+	27	4576_4577	c.4418_4419insGTCTTC	c.(4417-4422)atgtct>atGTCTTCgtct	p.1476_1477insSS	PIKFYVE_ENST00000474721.1_3'UTR	NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	1476					cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						GCAAGGCTCATGTCTTCCTCTG	0.441													21	86	---	---	---	---						GTCTTC	209200823	-	GTCTTC	209200822	7	5	39	1	0	1	1	0	0	0	0	0	11972	1464	51	0	4531	0	PIKFYVE	2	209200822	In_Frame_Ins	INS	-	TCGA-DB-A4XH-01A-11D-A27K-08	87710	209200822	33998551	11	1632											
C2orf54	79919	broad.mit.edu	37	2	241828002	241828002	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr2:241828002C>T	ENST00000307486.8	-	4	609	c.511G>A	c.(511-513)Gcc>Acc	p.A171T	C2orf54_ENST00000402775.2_Missense_Mutation_p.A152T|C2orf54_ENST00000388934.4_Missense_Mutation_p.A320T	NM_001282921.1	NP_001269850.1	Q08AI8	CB054_HUMAN	chromosome 2 open reading frame 54	320										haematopoietic_and_lymphoid_tissue(1)|lung(4)|prostate(1)	6		all_epithelial(40;3.99e-16)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)		CGGTACACGGCGCCCTGCAGT	0.697													3	27					0	0	1	0	0	T	241828002	C	T	241828002	3	4	39	1	0	0	0	0	1	0	0	0	2189	768	27	1	393	1	C2orf54	2	241828002	Missense_Mutation	SNP	C	TCGA-DB-A4XH-01A-11D-A27K-08	32627180	241828002	1371371	12	1633											
TRANK1	9881	broad.mit.edu	37	3	36874112	36874112	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr3:36874112C>T	ENST00000301807.6	-	21	7077	c.5180G>A	c.(5179-5181)cGc>cAc	p.R1727H	TRANK1_ENST00000428977.2_Missense_Mutation_p.R1727H|TRANK1_ENST00000429976.2_Missense_Mutation_p.R2277H			O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	2277					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						CCGGCGGTTGCGTGCGCTTTC	0.478													19	36					0	0	1	0	0	T	36874112	C	T	36874112	3	4	39	1	0	0	0	0	1	0	0	0	16515	768	27	1	1959	1	TRANK1	3	36874112	Missense_Mutation	SNP	C	TCGA-DB-A4XH-01A-11D-A27K-08		36874112	161148318	13	1634											
KLHL18	23276	broad.mit.edu	37	3	47384261	47384261	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr3:47384261G>A	ENST00000232766.5	+	9	1299	c.1279G>A	c.(1279-1281)Gtc>Atc	p.V427I	KLHL18_ENST00000455924.2_Missense_Mutation_p.V315I	NM_025010.4	NP_079286.2	O94889	KLH18_HUMAN	kelch-like family member 18	427										endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	21		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00645)|Kidney(197;0.00741)		TGGGGTTACAGTCTTTGAGGG	0.522													24	50					0	0	1	0	0	A	47384261	G	A	47384261	3	1	39	1	0	0	0	0	1	0	0	0	8416	1029	36	2	1313	2	KLHL18	3	47384261	Missense_Mutation	SNP	G	TCGA-DB-A4XH-01A-11D-A27K-08	10510149	47384261	150638169	14	1635											
UQCRC1	7384	broad.mit.edu	37	3	48636583	48636583	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr3:48636583C>T	ENST00000203407.5	-	13	1837	c.1421G>A	c.(1420-1422)gGc>gAc	p.G474D		NM_003365.2	NP_003356.2	P31930	QCR1_HUMAN	ubiquinol-cytochrome c reductase core protein I	474					aerobic respiration|proteolysis		metalloendopeptidase activity|ubiquinol-cytochrome-c reductase activity|zinc ion binding			breast(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)	Atovaquone(DB01117)	CCAGAACATGCCGCTACGGAT	0.637													4	185					0	0	1	0	0	T	48636583	C	T	48636583	3	4	39	1	0	0	0	0	1	0	0	0	17079	739	26	2	25	2	UQCRC1	3	48636583	Missense_Mutation	SNP	C	TCGA-DB-A4XH-01A-11D-A27K-08	1252322	48636583	149385847	15	1636											
CELSR3	1951	broad.mit.edu	37	3	48690585	48690585	+	Silent	SNP	C	C	T			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr3:48690585C>T	ENST00000544264.1	-	10	5764	c.5484G>A	c.(5482-5484)agG>agA	p.R1828R	CELSR3_ENST00000164024.4_Silent_p.R1828R			Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	1828	Laminin G-like 2.				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GGCCCGAGCCCCTGGTCACTG	0.617													6	118					0	0	1	0	0	T	48690585	C	T	48690585	2	4	39	1	0	0	0	0	0	0	0	1	3245	622	22	2		2	CELSR3	3	48690585	Silent	SNP	C	TCGA-DB-A4XH-01A-11D-A27K-08	54002	48690585	149331845	16	1637											
OR5H2	79310	broad.mit.edu	37	3	98001915	98001915	+	Missense_Mutation	SNP	A	A	G			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr3:98001915A>G	ENST00000355273.2	+	1	184	c.184A>G	c.(184-186)Atc>Gtc	p.I62V	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005482.1	NP_001005482.1	Q8NGV7	OR5H2_HUMAN	olfactory receptor, family 5, subfamily H, member 2	62					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(5)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	24						ACAACTTCACATCCCCATGTA	0.413													108	196					0	0	1	0	0	G	98001915	A	G	98001915	3	3	39	1	0	0	0	0	1	0	0	0	11209	217	8	3	186	3	OR5H2	3	98001915	Missense_Mutation	SNP	A	TCGA-DB-A4XH-01A-11D-A27K-08	49311330	98001915	100020515	17	1638											
ZBTB20	26137	broad.mit.edu	37	3	114058129	114058129	+	Missense_Mutation	SNP	T	T	C			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr3:114058129T>C	ENST00000462705.1	-	12	2551	c.1730A>G	c.(1729-1731)aAc>aGc	p.N577S	ZBTB20_ENST00000481632.1_Missense_Mutation_p.N577S|ZBTB20_ENST00000474710.1_Missense_Mutation_p.N650S|ZBTB20_ENST00000357258.3_Missense_Mutation_p.N577S|ZBTB20_ENST00000471418.1_Missense_Mutation_p.N577S|ZBTB20_ENST00000393785.2_Missense_Mutation_p.N577S|ZBTB20_ENST00000464560.1_Missense_Mutation_p.N577S	NM_001164343.1	NP_001157815.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	650					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		CATGTGCACGTTGAGGGAGCT	0.527													101	122					0	0	1	0	0	C	114058129	T	C	114058129	3	2	39	1	0	0	0	0	1	0	0	0	17588	1725	60	3	280	3	ZBTB20	3	114058129	Missense_Mutation	SNP	T	TCGA-DB-A4XH-01A-11D-A27K-08	16056214	114058129	83964301	18	1639											
BCL6	604	broad.mit.edu	37	3	187447676	187447676	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr3:187447676G>A	ENST00000406870.2	-	5	883	c.517C>T	c.(517-519)Cct>Tct	p.P173S	BCL6_ENST00000232014.4_Missense_Mutation_p.P173S|BCL6_ENST00000450123.2_Missense_Mutation_p.P173S|RP11-211G3.3_ENST00000437407.1_Intron|RP11-211G3.3_ENST00000449623.1_Intron	NM_001706.4	NP_001697.2	P41182	BCL6_HUMAN	B-cell CLL/lymphoma 6	173					negative regulation of B cell apoptosis|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|protein import into nucleus, translocation|regulation of germinal center formation|response to DNA damage stimulus	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(9)|lung(10)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	40	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)		TCACACCCAGGGGCGCTCCTC	0.602			"T, Mis"	"IG loci, ZNFN1A1, LCP1, PIM1, TFRC, CIITA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R,  POU2AF1, ARHH, EIF4A2, SFRS3"	"NHL, CLL"								6	139					0	0	1	0	0	A	187447676	G	A	187447676	3	1	39	1	0	0	0	0	1	0	0	0	1374	1232	43	2	1627	2	BCL6	3	187447676	Missense_Mutation	SNP	G	TCGA-DB-A4XH-01A-11D-A27K-08	73389547	187447676	10574754	19	1640											
NAT8L	339983	broad.mit.edu	37	4	2065803	2065803	+	Silent	SNP	C	C	G			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr4:2065803C>G	ENST00000423729.2	+	3	858	c.858C>G	c.(856-858)ctC>ctG	p.L286L	NAT8L_ENST00000331662.3_Silent_p.L118L	NM_178557.3	NP_848652.2	Q8N9F0	NAT8L_HUMAN	N-acetyltransferase 8-like (GCN5-related, putative)	286						integral to membrane|microsome|mitochondrial membrane|rough endoplasmic reticulum membrane	aspartate N-acetyltransferase activity			haematopoietic_and_lymphoid_tissue(1)|lung(1)	2			OV - Ovarian serous cystadenocarcinoma(23;0.0315)			CTGAGCGCCTCTTCTTCCAGG	0.711													13	20					0	0	1	0	0	G	2065803	C	G	2065803	2	3	39	1	0	0	0	0	0	0	0	1	10229	900	32	4		4	NAT8L	4	2065803	Silent	SNP	C	TCGA-DB-A4XH-01A-11D-A27K-08		2065803	189088473	20	1641											
OTOP1	133060	broad.mit.edu	37	4	4199453	4199453	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr4:4199453G>A	ENST00000296358.4	-	5	1132	c.1108C>T	c.(1108-1110)Cgg>Tgg	p.R370W		NM_177998.1	NP_819056.1	Q7RTM1	OTOP1_HUMAN	otopetrin 1	370					biomineral tissue development	extracellular space|integral to membrane				NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CTGTAAATCCGGATTCCAGCC	0.582													6	83					0	0	1	0	0	A	4199453	G	A	4199453	3	1	39	1	0	0	0	0	1	0	0	0	11352	1115	39	1	738	1	OTOP1	4	4199453	Missense_Mutation	SNP	G	TCGA-DB-A4XH-01A-11D-A27K-08	2133650	4199453	186954823	21	1642											
SLC10A4	201780	broad.mit.edu	37	4	48485844	48485844	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr4:48485844delG	ENST00000273861.4	+	1	485	c.266delG	c.(265-267)tggfs	p.W89fs		NM_152679.3	NP_689892.1	Q96EP9	NTCP4_HUMAN	solute carrier family 10, member 4	89						integral to membrane	bile acid:sodium symporter activity			central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	6						CCTCGGCCCTGGGCGCCCCAC	0.756													2	4	---	---	---	---						-	48485844	G	-	48485844	7	5	39	1	0	1	0	1	0	0	0	0	14431	1357	47	0	268	0	SLC10A4	4	48485844	Frame_Shift_Del	DEL	G	TCGA-DB-A4XH-01A-11D-A27K-08	44286391	48485844	142668432	22	1643											
SLC12A7	10723	broad.mit.edu	37	5	1081825	1081825	+	Silent	SNP	C	C	T	rs138705098		TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr5:1081825C>T	ENST00000264930.5	-	9	1207	c.1164G>A	c.(1162-1164)gcG>gcA	p.A388A		NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 7	388					potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	TCTCCACAAACGCCCCCGCGT	0.662													8	68					0	0	1	0	0	T	1081825	C	T	1081825	2	4	39	1	0	0	0	0	0	0	0	1	14443	523	19	1		1	SLC12A7	5	1081825	Silent	SNP	C	TCGA-DB-A4XH-01A-11D-A27K-08		1081825	179833435	23	1644											
CDH6	1004	broad.mit.edu	37	5	31323107	31323107	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr5:31323107C>T	ENST00000265071.2	+	12	2330	c.2065C>T	c.(2065-2067)Cga>Tga	p.R689*		NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	689					adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						CAACAAATTACGAAGGGACAT	0.502													6	56					0	0	1	0	0	T	31323107	C	T	31323107	4	4	39	1	0	0	0	0	0	1	0	0	3136	528	19	1	2107	1	CDH6	5	31323107	Nonsense_Mutation	SNP	C	TCGA-DB-A4XH-01A-11D-A27K-08	30241282	31323107	149592153	24	1645											
CDC5L	988	broad.mit.edu	37	6	44387260	44387260	+	Missense_Mutation	SNP	G	G	C			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr6:44387260G>C	ENST00000371477.3	+	9	1466	c.1167G>C	c.(1165-1167)gaG>gaC	p.E389D		NM_001253.3	NP_001244.1	Q99459	CDC5L_HUMAN	cell division cycle 5-like	389	Interaction with PPP1R8.				cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	catalytic step 2 spliceosome|cytoplasm|nuclear speck|nucleolus	DNA binding|RNA binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(4)	29	all_lung(25;0.00433)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CATTGCATGAGAGTGACTTCT	0.438													17	62					0	0	1	0	0	C	44387260	G	C	44387260	3	2	39	1	0	0	0	0	1	0	0	0	3104	933	33	4	1201	4	CDC5L	6	44387260	Missense_Mutation	SNP	G	TCGA-DB-A4XH-01A-11D-A27K-08		44387260	126727807	25	1646											
TPST1	8460	broad.mit.edu	37	7	65705779	65705779	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr7:65705779C>T	ENST00000304842.5	+	2	792	c.367C>T	c.(367-369)Cgc>Tgc	p.R123C	TPST1_ENST00000480281.1_Intron	NM_003596.3	NP_003587.1	O60507	TPST1_HUMAN	tyrosylprotein sulfotransferase 1	123					inflammatory response|peptidyl-tyrosine sulfation	Golgi membrane|integral to membrane|membrane fraction	protein-tyrosine sulfotransferase activity			NS(1)|biliary_tract(1)|breast(1)|kidney(3)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11						AGAGAAGATCCGCCTGGATGA	0.512													29	42					0	0	1	0	0	T	65705779	C	T	65705779	3	4	39	1	0	0	0	0	1	0	0	0	16488	652	23	1	369	1	TPST1	7	65705779	Missense_Mutation	SNP	C	TCGA-DB-A4XH-01A-11D-A27K-08		65705779	93432884	26	1647											
SNX31	169166	broad.mit.edu	37	8	101589305	101589308	+	Splice_Site	DEL	TAGA	TAGA	-			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr8:101589305_101589308delTAGA	ENST00000311812.2	-	13	1321		c.e13-2		SNX31_ENST00000428383.2_Splice_Site	NM_152628.3	NP_689841.3	Q8N9S9	SNX31_HUMAN	sorting nexin 31						cell communication|protein transport		phosphatidylinositol binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|skin(3)|urinary_tract(1)	26	all_cancers(14;4.01e-05)|all_epithelial(15;1.26e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;1.21e-11)|all cancers(13;2.62e-09)|OV - Ovarian serous cystadenocarcinoma(57;3.22e-06)|STAD - Stomach adenocarcinoma(118;0.206)			TTCAATCTGCTAGATAGATTAGTG	0.363													43	94	---	---	---	---						-	101589308	TAGA	-	101589305	8	5	39	1	0	1	0	1	0	0	1	0	14955	1536	53	0	161	0	SNX31	8	101589305	Splice_Site	DEL	TAGA	TCGA-DB-A4XH-01A-11D-A27K-08		101589305	44774717	27	1648											
AQP3	360	broad.mit.edu	37	9	33442299	33442299	+	Splice_Site	SNP	G	G	A			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr9:33442299G>A	ENST00000297991.4	-	5	790	c.710C>T	c.(709-711)aCg>aTg	p.T237M	AQP3_ENST00000493581.1_5'UTR	NM_004925.4	NP_004916.1	Q92482	AQP3_HUMAN	aquaporin 3 (Gill blood group)	237					excretion|odontogenesis|positive regulation of immune system process|regulation of keratinocyte differentiation|response to calcium ion|response to retinoic acid|response to vitamin D	basolateral plasma membrane|cell-cell junction|cytoplasm	glycerol channel activity|water channel activity			endometrium(2)|large_intestine(3)|lung(2)|ovary(1)	8			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.0899)		CTGTACTCACGTGAAGACTGC	0.657													3	28					0	0	1	0	0	A	33442299	G	A	33442299	5	1	39	1	0	0	0	0	0	0	1	0	824	1159	40	1	176	1	AQP3	9	33442299	Splice_Site	SNP	G	TCGA-DB-A4XH-01A-11D-A27K-08		33442299	107771132	28	1649											
COL27A1	85301	broad.mit.edu	37	9	116931263	116931263	+	Silent	SNP	C	C	T			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr9:116931263C>T	ENST00000356083.3	+	3	1819	c.1428C>T	c.(1426-1428)acC>acT	p.T476T		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	476	Pro-rich.				cell adhesion		extracellular matrix structural constituent			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						CTGCCCGCACCAGCACCCACA	0.567													134	191					0	0	1	0	0	T	116931263	C	T	116931263	2	4	39	1	0	0	0	0	0	0	0	1	3708	581	21	2		2	COL27A1	9	116931263	Silent	SNP	C	TCGA-DB-A4XH-01A-11D-A27K-08	83488964	116931263	24282168	29	1650											
MYO3A	53904	broad.mit.edu	37	10	26500781	26500781	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr10:26500781G>A	ENST00000543632.1	+	17	1846	c.1786G>A	c.(1786-1788)Ggc>Agc	p.G596S	MYO3A_ENST00000265944.5_Silent_p.A1580A			Q8NEV4	MYO3A_HUMAN	myosin IIIA	0	Myosin head-like.				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						GGTGCTGGGCGGCGGAGAGCC	0.662													13	43					0	0	1	0	0	A	26500781	G	A	26500781	3	1	39	1	0	0	0	0	1	0	0	0	10124	1103	39	1	4870	1	MYO3A	10	26500781	Missense_Mutation	SNP	G	TCGA-DB-A4XH-01A-11D-A27K-08		26500781	109033966	30	1651											
ANKRD30A	91074	broad.mit.edu	37	10	37430910	37430910	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr10:37430910C>T	ENST00000374660.1	+	7	1016	c.917C>T	c.(916-918)aCg>aTg	p.T306M	ANKRD30A_ENST00000602533.1_Missense_Mutation_p.T306M|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.T306M			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	362						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						AGGGAAATTACGAGTCCTGCA	0.433													65	86					0	0	1	0	0	T	37430910	C	T	37430910	3	4	39	1	0	0	0	0	1	0	0	0	654	536	19	1	943	1	ANKRD30A	10	37430910	Missense_Mutation	SNP	C	TCGA-DB-A4XH-01A-11D-A27K-08	10930129	37430910	98103837	31	1652											
F2	2147	broad.mit.edu	37	11	46747678	46747678	+	Missense_Mutation	SNP	G	G	C			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr11:46747678G>C	ENST00000311907.5	+	7	885	c.829G>C	c.(829-831)Gcc>Ccc	p.A277P	F2_ENST00000530231.1_Missense_Mutation_p.A277P	NM_000506.3	NP_000497.1	P00734	THRB_HUMAN	coagulation factor II (thrombin)	277	Kringle 2.				activation of caspase activity|acute-phase response|blood coagulation, intrinsic pathway|cell surface receptor linked signaling pathway|cytosolic calcium ion homeostasis|fibrinolysis|leukocyte migration|negative regulation of astrocyte differentiation|negative regulation of fibrinolysis|negative regulation of platelet activation|negative regulation of proteolysis|peptidyl-glutamic acid carboxylation|platelet activation|positive regulation of collagen biosynthetic process|positive regulation of protein phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of release of sequestered calcium ion into cytosol|post-translational protein modification|proteolysis|STAT protein import into nucleus|tyrosine phosphorylation of STAT protein	cytosol|endoplasmic reticulum lumen|extracellular space|Golgi lumen|plasma membrane|soluble fraction	calcium ion binding|growth factor activity|serine-type endopeptidase activity|thrombospondin receptor activity			endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	27		all_lung(304;0.000414)|Lung NSC(402;0.0011)		BRCA - Breast invasive adenocarcinoma(625;0.146)	Antihemophilic Factor(DB00025)|Argatroban(DB00278)|Bivalirudin(DB00006)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)|Enoxaparin(DB01225)|Heparin(DB01109)|Lepirudin(DB00001)|Menadione(DB00170)|Proflavine(DB01123)|Simvastatin(DB00641)|Suramin(DB04786)|Warfarin(DB00682)|Ximelagatran(DB04898)	GTGCTATGTGGCCGGGAAGCC	0.597													7	125					0	0	1	0	0	C	46747678	G	C	46747678	3	2	39	1	0	0	0	0	1	0	0	0	5370	1203	42	5	855	5	F2	11	46747678	Missense_Mutation	SNP	G	TCGA-DB-A4XH-01A-11D-A27K-08		46747678	88258838	32	1653											
ITPR2	3709	broad.mit.edu	37	12	26639240	26639240	+	Missense_Mutation	SNP	C	C	G			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr12:26639240C>G	ENST00000381340.3	-	41	6024	c.5608G>C	c.(5608-5610)Gct>Cct	p.A1870P		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	1870					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					GCTGAAGAAGCTTCTGTTAAT	0.363													12	45					0	0	1	0	0	G	26639240	C	G	26639240	3	3	39	1	0	0	0	0	1	0	0	0	7965	797	28	4	2565	4	ITPR2	12	26639240	Missense_Mutation	SNP	C	TCGA-DB-A4XH-01A-11D-A27K-08		26639240	107212655	33	1654											
ABCD2	225	broad.mit.edu	37	12	39947886	39947886	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr12:39947886C>T	ENST00000308666.3	-	10	2186	c.2051G>A	c.(2050-2052)cGc>cAc	p.R684H		NM_005164.3	NP_005155.1	Q9UBJ2	ABCD2_HUMAN	ATP-binding cassette, sub-family D (ALD), member 2	684	ABC transporter.				fatty acid metabolic process|transport	ATP-binding cassette (ABC) transporter complex|integral to plasma membrane|peroxisomal membrane	ATP binding|ATPase activity|protein binding	p.R684H(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(24)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	52						TTGTTCAAAGCGCCAACCTCC	0.348													3	38					0	0	1	0	0	T	39947886	C	T	39947886	3	4	39	1	0	0	0	0	1	0	0	0	61	768	27	1	175	1	ABCD2	12	39947886	Missense_Mutation	SNP	C	TCGA-DB-A4XH-01A-11D-A27K-08	13308646	39947886	93904009	34	1655											
DCN	1634	broad.mit.edu	37	12	91546926	91546926	+	Silent	SNP	G	G	A			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr12:91546926G>A	ENST00000052754.5	-	6	1194	c.693C>T	c.(691-693)aaC>aaT	p.N231N	DCN_ENST00000420120.2_Silent_p.N122N|DCN_ENST00000425043.1_Silent_p.N84N|DCN_ENST00000228329.5_Silent_p.N122N|DCN_ENST00000552962.1_Silent_p.N231N|DCN_ENST00000303320.3_Intron|DCN_ENST00000393155.1_Silent_p.N231N|DCN_ENST00000456569.2_Intron|DCN_ENST00000441303.2_Intron|DCN_ENST00000547568.2_Silent_p.N84N	NM_001920.3	NP_001911.1	P07585	PGS2_HUMAN	decorin	231					organ morphogenesis	extracellular space				central_nervous_system(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|skin(1)	20						TGCTGATTTTGTTGCCATCAA	0.358													8	77					0	0	1	0	0	A	91546926	G	A	91546926	2	1	39	1	0	0	0	0	0	0	0	1	4320	1368	48	2		2	DCN	12	91546926	Silent	SNP	G	TCGA-DB-A4XH-01A-11D-A27K-08	51599040	91546926	42304969	35	1656											
LATS2	26524	broad.mit.edu	37	13	21563346	21563346	+	Silent	SNP	G	G	A			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr13:21563346G>A	ENST00000382592.4	-	4	978	c.573C>T	c.(571-573)taC>taT	p.Y191Y	LATS2_ENST00000472754.1_5'UTR|LATS2_ENST00000542899.1_Silent_p.Y191Y	NM_014572.2	NP_055387.2	Q9NRM7	LATS2_HUMAN	large tumor suppressor kinase 2	191					cell division|G1/S transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|intracellular protein kinase cascade|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity	microtubule organizing center|nucleus|spindle pole	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2)	45		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)		TTGGGCCCTCGTAGGGGGTAC	0.687													11	103					0	0	1	0	0	A	21563346	G	A	21563346	2	1	39	1	0	0	0	0	0	0	0	1	8686	1140	40	1		1	LATS2	13	21563346	Silent	SNP	G	TCGA-DB-A4XH-01A-11D-A27K-08		21563346	93606532	36	1657											
PAN3	255967	broad.mit.edu	37	13	28713125	28713125	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr13:28713125delC	ENST00000380958.3	+	1	483	c.331delC	c.(331-333)cccfs	p.P112fs		NM_175854.7	NP_787050.6	Q58A45	PAN3_HUMAN	PAN3 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)	112	Interaction with polyadenylate-binding protein.				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening	centrosome|cytosol	ATP binding|protein kinase activity			endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)	Colorectal(13;0.000334)	all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174)		AGCTGGGCCGCCCCCCGGGCC	0.771													2	4	---	---	---	---						-	28713125	C	-	28713125	7	5	39	1	0	1	0	1	0	0	0	0	11462	739	26	0	333	0	PAN3	13	28713125	Frame_Shift_Del	DEL	C	TCGA-DB-A4XH-01A-11D-A27K-08	7149779	28713125	86456753	37	1658											
RNF31	55072	broad.mit.edu	37	14	24619440	24619440	+	Missense_Mutation	SNP	G	G	T			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr14:24619440G>T	ENST00000324103.6	+	7	1300	c.980G>T	c.(979-981)cGa>cTa	p.R327L	RNF31_ENST00000382687.3_Missense_Mutation_p.R176L|RNF31_ENST00000559275.1_Missense_Mutation_p.R176L	NM_017999.4	NP_060469.4	Q96EP0	RNF31_HUMAN	ring finger protein 31	327	Polyubiquitin-binding.				CD40 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein linear polyubiquitination|T cell receptor signaling pathway	CD40 receptor complex|internal side of plasma membrane|LUBAC complex	ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(4)|skin(2)|soft_tissue(1)	39				GBM - Glioblastoma multiforme(265;0.00861)		GATCGGCCCCGAGGCTGTAAG	0.607													31	47					1.88708e-17	1.99975e-17	1	1	0	T	24619440	G	T	24619440	3	4	39	1	0	0	0	0	1	0	0	0	13539	1058	37	5	1006	5	RNF31	14	24619440	Missense_Mutation	SNP	G	TCGA-DB-A4XH-01A-11D-A27K-08		24619440	82730100	38	1659	4	2									
RNF31	55072	broad.mit.edu	37	14	24619441	24619441	+	Silent	SNP	A	A	T			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr14:24619441A>T	ENST00000324103.6	+	7	1301	c.981A>T	c.(979-981)cgA>cgT	p.R327R	RNF31_ENST00000382687.3_Silent_p.R176R|RNF31_ENST00000559275.1_Silent_p.R176R	NM_017999.4	NP_060469.4	Q96EP0	RNF31_HUMAN	ring finger protein 31	327	Polyubiquitin-binding.				CD40 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein linear polyubiquitination|T cell receptor signaling pathway	CD40 receptor complex|internal side of plasma membrane|LUBAC complex	ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(4)|skin(2)|soft_tissue(1)	39				GBM - Glioblastoma multiforme(265;0.00861)		ATCGGCCCCGAGGCTGTAAGG	0.607													31	48					0	0	1	0	0	T	24619441	A	T	24619441	2	4	39	1	0	0	0	0	0	0	0	1	13539	291	11	5		5	RNF31	14	24619441	Silent	SNP	A	TCGA-DB-A4XH-01A-11D-A27K-08	1	24619441	82730099	39	1660	4	2									
TBPL2	387332	broad.mit.edu	37	14	55907119	55907119	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr14:55907119C>T	ENST00000247219.5	-	1	215	c.145G>A	c.(145-147)Gct>Act	p.A49T		NM_199047.2	NP_950248.1	Q6SJ96	TBPL2_HUMAN	TATA box binding protein like 2	49					multicellular organismal development|transcription initiation from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	8						CTCACCTGAGCGGCGCACTGG	0.622													6	116					0	0	1	0	0	T	55907119	C	T	55907119	3	4	39	1	0	0	0	0	1	0	0	0	15706	768	27	1	1010	1	TBPL2	14	55907119	Missense_Mutation	SNP	C	TCGA-DB-A4XH-01A-11D-A27K-08	31287678	55907119	51442421	40	1661											
SPTB	6710	broad.mit.edu	37	14	65260496	65260496	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr14:65260496G>A	ENST00000389722.3	-	13	1938	c.1885C>T	c.(1885-1887)Cgg>Tgg	p.R629W	SPTB_ENST00000556626.1_Missense_Mutation_p.R629W|SPTB_ENST00000542895.1_Missense_Mutation_p.R629W|SPTB_ENST00000389720.3_Missense_Mutation_p.R629W|SPTB_ENST00000389721.5_Missense_Mutation_p.R629W	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	629				RKA -> ART (in Ref. 1; AAA60578/ AAA60579).	actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		TGGGCCTTCCGCCCAGCTGCC	0.552													4	74					0	0	1	0	0	A	65260496	G	A	65260496	3	1	39	1	0	0	0	0	1	0	0	0	15174	1086	38	1	5262	1	SPTB	14	65260496	Missense_Mutation	SNP	G	TCGA-DB-A4XH-01A-11D-A27K-08	9353377	65260496	42089044	41	1662											
SETD3	84193	broad.mit.edu	37	14	99865139	99865139	+	Silent	SNP	G	G	A			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr14:99865139G>A	ENST00000331768.5	-	13	1821	c.1662C>T	c.(1660-1662)aaC>aaT	p.N554N		NM_032233.2	NP_115609.2	Q86TU7	SETD3_HUMAN	SET domain containing 3	554					peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|peptidyl-lysine trimethylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone methyltransferase activity (H3-K36 specific)|transcription coactivator activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25		all_cancers(154;0.224)|all_epithelial(191;0.0644)|Melanoma(154;0.0866)				AGTTTTCACCGTTTACAAGCC	0.468													4	145					0	0	1	0	0	A	99865139	G	A	99865139	2	1	39	1	0	0	0	0	0	0	0	1	14186	1136	40	1		1	SETD3	14	99865139	Silent	SNP	G	TCGA-DB-A4XH-01A-11D-A27K-08	34604643	99865139	7484401	42	1663											
SMAD6	4091	broad.mit.edu	37	15	67073541	67073541	+	Missense_Mutation	SNP	A	A	T			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr15:67073541A>T	ENST00000288840.5	+	4	2190	c.1159A>T	c.(1159-1161)Atc>Ttc	p.I387F	SMAD6_ENST00000338426.4_Missense_Mutation_p.I126F	NM_005585.4	NP_005576.3	O43541	SMAD6_HUMAN	SMAD family member 6	387	MH2.				BMP signaling pathway|immune response|negative regulation of apoptosis|negative regulation of BMP signaling pathway|negative regulation of caspase activity|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of SMAD protein complex assembly|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of S phase of mitotic cell cycle|response to laminar fluid shear stress|transforming growth factor beta receptor signaling pathway|zygotic specification of dorsal/ventral axis	cytosol|transcription factor complex	co-SMAD binding|I-SMAD binding|R-SMAD binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, inhibitory cytoplasmic mediator activity|type I activin receptor binding|type I transforming growth factor beta receptor binding|ubiquitin protein ligase binding			lung(1)|skin(1)	2						GCGCAGCAAGATCGGCTTCGG	0.672													4	36					0	0	1	0	0	T	67073541	A	T	67073541	3	4	39	1	0	0	0	0	1	0	0	0	14816	333	12	4	1211	4	SMAD6	15	67073541	Missense_Mutation	SNP	A	TCGA-DB-A4XH-01A-11D-A27K-08		67073541	35457851	43	1664											
ADCY9	115	broad.mit.edu	37	16	4016491	4016491	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr16:4016491G>A	ENST00000294016.3	-	11	3885	c.3347C>T	c.(3346-3348)gCg>gTg	p.A1116V		NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	1116	Guanylate cyclase 2.				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						CCCTGACGCCGCCATGTACGT	0.622													8	118					0	0	1	0	0	A	4016491	G	A	4016491	3	1	39	1	0	0	0	0	1	0	0	0	300	1087	38	1	718	1	ADCY9	16	4016491	Missense_Mutation	SNP	G	TCGA-DB-A4XH-01A-11D-A27K-08		4016491	86338262	44	1665											
PHKB	5257	broad.mit.edu	37	16	47730353	47730353	+	Missense_Mutation	SNP	C	C	A			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr16:47730353C>A	ENST00000455779.1	+	30	3121	c.2936C>A	c.(2935-2937)aCg>aAg	p.T979K	PHKB_ENST00000566044.1_Missense_Mutation_p.T979K|PHKB_ENST00000323584.5_Missense_Mutation_p.T986K|PHKB_ENST00000299167.8_Missense_Mutation_p.T986K			Q93100	KPBB_HUMAN	phosphorylase kinase, beta	986					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|liver(1)|lung(18)|ovary(1)|skin(1)	41		all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203)				GTTGAAGACACGTTGGGAAAT	0.408													14	53					2.61681e-11	2.69266e-11	1	1	0	A	47730353	C	A	47730353	3	1	39	1	0	0	0	0	1	0	0	0	11893	536	19	5	3225	5	PHKB	16	47730353	Missense_Mutation	SNP	C	TCGA-DB-A4XH-01A-11D-A27K-08	43713862	47730353	42624400	45	1666											
CCDC135	84229	broad.mit.edu	37	16	57731885	57731887	+	In_Frame_Del	DEL	GGA	GGA	-			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr16:57731885_57731887delGGA	ENST00000360716.3	+	3	245_247	c.24_26delGGA	c.(22-27)gtggag>gtg	p.E13del	CCDC135_ENST00000394337.4_In_Frame_Del_p.E13del|CCDC135_ENST00000336825.8_In_Frame_Del_p.E13del|RP11-405F3.4_ENST00000563062.1_RNA			Q8IY82	CC135_HUMAN	coiled-coil domain containing 135	13						cytoplasm				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						Gggagaaggtggaggaggaggag	0.591													8	167	---	---	---	---						-	57731887	GGA	-	57731885	7	5	39	1	0	1	0	1	0	0	0	0	2787	1335	47	0	26	0	CCDC135	16	57731885	In_Frame_Del	DEL	GGA	TCGA-DB-A4XH-01A-11D-A27K-08	10001532	57731885	32622868	46	1667											
CES2	8824	broad.mit.edu	37	16	66977769	66977770	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr16:66977769_66977770insT	ENST00000317091.4	+	12	2697_2698	c.1713_1714insT	c.(1714-1716)tggfs	p.W572fs	CES2_ENST00000417689.1_Frame_Shift_Ins_p.W556fs|RP11-361L15.4_ENST00000566869.1_RNA	NM_003869.5	NP_003860.2	O00748	EST2_HUMAN	carboxylesterase 2	508					catabolic process	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity			breast(1)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|urinary_tract(1)	12		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0663)|Epithelial(162;0.166)		GTCTGCCACACTGGCCGCTGTT	0.634													7	112	---	---	---	---						T	66977770	-	T	66977769	7	5	39	1	0	1	1	0	0	0	0	0	3292	564	20	0	1759	0	CES2	16	66977769	Frame_Shift_Ins	INS	-	TCGA-DB-A4XH-01A-11D-A27K-08	9245884	66977769	23376984	47	1668											
WDR7	23335	broad.mit.edu	37	18	54446754	54446754	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr18:54446754C>T	ENST00000254442.3	+	18	3251	c.3040C>T	c.(3040-3042)Cga>Tga	p.R1014*	WDR7_ENST00000589935.1_Intron|WDR7_ENST00000357574.3_Nonsense_Mutation_p.R981*	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	1014								p.R1014R(1)		NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		GATGCTGGCCCGAAGATGGCA	0.413													6	42					0	0	1	0	0	T	54446754	C	T	54446754	4	4	39	1	0	0	0	0	0	1	0	0	17380	644	23	1	3106	1	WDR7	18	54446754	Nonsense_Mutation	SNP	C	TCGA-DB-A4XH-01A-11D-A27K-08		54446754	23630494	48	1669											
OR1M1	125963	broad.mit.edu	37	19	9204546	9204546	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr19:9204546C>T	ENST00000429566.3	+	1	692	c.626C>T	c.(625-627)aCg>aTg	p.T209M		NM_001004456.1	NP_001004456.1	Q8NGA1	OR1M1_HUMAN	olfactory receptor, family 1, subfamily M, member 1	209					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|large_intestine(3)|lung(17)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						GTGATAGCCACGCCCTTTGTC	0.567													52	74					0	0	1	0	0	T	9204546	C	T	9204546	3	4	39	1	0	0	0	0	1	0	0	0	11016	536	19	1	628	1	OR1M1	19	9204546	Missense_Mutation	SNP	C	TCGA-DB-A4XH-01A-11D-A27K-08		9204546	49924437	49	1670											
CYP4F12	66002	broad.mit.edu	37	19	15791259	15791259	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr19:15791259C>T	ENST00000550308.1	+	5	835	c.455C>T	c.(454-456)aCg>aTg	p.T152M	CYP4F12_ENST00000324632.10_Missense_Mutation_p.T152M	NM_023944.3	NP_076433			cytochrome P450, family 4, subfamily F, polypeptide 12									p.T152M(2)		NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)					CGGATGCTGACGCCCGCCTTC	0.542													4	36					0	0	1	0	0	T	15791259	C	T	15791259	3	4	39	1	0	0	0	0	1	0	0	0	4210	536	19	1	469	1	CYP4F12	19	15791259	Missense_Mutation	SNP	C	TCGA-DB-A4XH-01A-11D-A27K-08	6586713	15791259	43337724	50	1671											
HIPK4	147746	broad.mit.edu	37	19	40895408	40895408	+	Silent	SNP	G	G	A			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr19:40895408G>A	ENST00000291823.2	-	1	686	c.402C>T	c.(400-402)caC>caT	p.H134H		NM_144685.3	NP_653286.2	Q8NE63	HIPK4_HUMAN	homeodomain interacting protein kinase 4	134	Protein kinase.					cytoplasm	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	20			Lung(22;4.95e-05)|LUSC - Lung squamous cell carcinoma(20;0.000292)			TGAGATCAGCGTGGATGATAG	0.627													4	30					0	0	1	0	0	A	40895408	G	A	40895408	2	1	39	1	0	0	0	0	0	0	0	1	7160	1136	40	1		1	HIPK4	19	40895408	Silent	SNP	G	TCGA-DB-A4XH-01A-11D-A27K-08	25104149	40895408	18233575	51	1672											
NDUFA3	4696	broad.mit.edu	37	19	54610132	54610135	+	Frame_Shift_Del	DEL	GATG	GATG	-			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr19:54610132_54610135delGATG	ENST00000485876.1	+	4	220_223	c.178_181delGATG	c.(178-183)gatgggfs	p.DG60fs	NDUFA3_ENST00000391764.3_Intron|NDUFA3_ENST00000303553.5_Frame_Shift_Del_p.DG17fs|NDUFA3_ENST00000391762.1_3'UTR|NDUFA3_ENST00000391763.3_3'UTR			O95167	NDUA3_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 3, 9kDa	60					mitochondrial electron transport, NADH to ubiquinone|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			breast(1)|endometrium(1)	2	all_cancers(19;0.004)|all_epithelial(19;0.00195)|all_lung(19;0.0193)|Lung NSC(19;0.0358)|Breast(117;0.137)|Ovarian(34;0.19)				NADH(DB00157)	CGTCCGTGATGATGGGAACATGCC	0.642													11	6	---	---	---	---						-	54610135	GATG	-	54610132	7	5	39	1	0	1	0	1	0	0	0	0	10312	1290	45	0	192	0	NDUFA3	19	54610132	Frame_Shift_Del	DEL	GATG	TCGA-DB-A4XH-01A-11D-A27K-08	13714724	54610132	4518851	52	1673											
PAK7	57144	broad.mit.edu	37	20	9561502	9561502	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr20:9561502C>T	ENST00000378429.3	-	5	826	c.280G>A	c.(280-282)Gtg>Atg	p.V94M	PAK7_ENST00000378423.1_Missense_Mutation_p.V94M|PAK7_ENST00000353224.5_Missense_Mutation_p.V94M	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	94	Linker.						ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			GAGCGAGTCACCGAGATGTTG	0.517													82	132					0	0	1	0	0	T	9561502	C	T	9561502	3	4	39	1	0	0	0	0	1	0	0	0	11452	507	18	2	1907	2	PAK7	20	9561502	Missense_Mutation	SNP	C	TCGA-DB-A4XH-01A-11D-A27K-08		9561502	53464018	53	1674											
SSTR4	6754	broad.mit.edu	37	20	23016949	23016949	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr20:23016949G>A	ENST00000255008.3	+	1	893	c.829G>A	c.(829-831)Gtg>Atg	p.V277M	RP4-753D10.3_ENST00000440921.1_RNA	NM_001052.2	NP_001043.2	P31391	SSR4_HUMAN	somatostatin receptor 4	277					G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	32	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)					GCCTTTCTACGTGGTGCAGCT	0.587													5	114					0	0	1	0	0	A	23016949	G	A	23016949	3	1	39	1	0	0	0	0	1	0	0	0	15256	1145	40	1	831	1	SSTR4	20	23016949	Missense_Mutation	SNP	G	TCGA-DB-A4XH-01A-11D-A27K-08	13455447	23016949	40008571	54	1675											
TUBB1	81027	broad.mit.edu	37	20	57597953	57597953	+	Silent	SNP	C	C	T	rs150453159	byFrequency	TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr20:57597953C>T	ENST00000217133.1	+	2	380	c.111C>T	c.(109-111)cgC>cgT	p.R37R		NM_030773.3	NP_110400.1	Q9H4B7	TBB1_HUMAN	tubulin, beta 1 class VI	37					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|skin(2)	16	all_lung(29;0.00711)		Colorectal(105;0.109)		Colchicine(DB01394)|Docetaxel(DB01248)|Paclitaxel(DB01229)|Vindesine(DB00309)	GGAGCGACCGCGGGGCCTCGG	0.597													26	36					0	0	1	0	0	T	57597953	C	T	57597953	2	4	39	1	0	0	0	0	0	0	0	1	16815	755	27	1		1	TUBB1	20	57597953	Silent	SNP	C	TCGA-DB-A4XH-01A-11D-A27K-08	34581004	57597953	5427567	55	1676											
ASPHD2	57168	broad.mit.edu	37	22	26830386	26830386	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr22:26830386G>A	ENST00000215906.5	+	2	1243	c.805G>A	c.(805-807)Gcg>Acg	p.A269T		NM_020437.4	NP_065170.2	Q6ICH7	ASPH2_HUMAN	aspartate beta-hydroxylase domain containing 2	269					peptidyl-amino acid modification	integral to endoplasmic reticulum membrane	oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity	p.A243T(1)		endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(4)|urinary_tract(1)	16						TTTTGGGAACGCGTGCATCTC	0.547													6	199					0	0	1	0	0	A	26830386	G	A	26830386	3	1	39	1	0	0	0	0	1	0	0	0	1054	1087	38	1	807	1	ASPHD2	22	26830386	Missense_Mutation	SNP	G	TCGA-DB-A4XH-01A-11D-A27K-08		26830386	24474180	56	1677											
PDHA1	5160	broad.mit.edu	37	X	19368154	19368154	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chrX:19368154C>T	ENST00000379806.5	+	4	476	c.331C>T	c.(331-333)Cga>Tga	p.R111*	PDHA1_ENST00000422285.2_Nonsense_Mutation_p.R73*|PDHA1_ENST00000540249.1_Nonsense_Mutation_p.R73*|PDHA1_ENST00000545074.1_Nonsense_Mutation_p.R73*|PDHA1_ENST00000379805.3_Nonsense_Mutation_p.R73*	NM_001173454.1	NP_001166925.1	P08559	ODPA_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 1	73					glycolysis|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	protein binding|pyruvate dehydrogenase (acetyl-transferring) activity			endometrium(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)	18	Hepatocellular(33;0.183)				NADH(DB00157)	GACTGTACGCCGAATGGAGTT	0.483													7	145					0	0	1	0	0	T	19368154	C	T	19368154	4	4	39	1	0	0	0	0	0	1	0	0	11711	644	23	1	345	1	PDHA1	23	19368154	Nonsense_Mutation	SNP	C	TCGA-DB-A4XH-01A-11D-A27K-08		19368154	135902406	57	1678											
PPP1R3F	89801	broad.mit.edu	37	X	49126932	49126932	+	Silent	SNP	G	G	A			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chrX:49126932G>A	ENST00000055335.6	+	1	616	c.600G>A	c.(598-600)ccG>ccA	p.P200P	PPP1R3F_ENST00000495799.1_Intron|PPP1R3F_ENST00000466508.1_Intron|PPP1R3F_ENST00000438316.1_Intron	NM_033215.4	NP_149992.3	Q6ZSY5	PPR3F_HUMAN	protein phosphatase 1, regulatory subunit 3F	200	CBM21.					integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(4)	27	Ovarian(276;0.236)					GCTACGTCCCGCGCAGCCCGC	0.706													21	21					0	0	1	0	0	A	49126932	G	A	49126932	2	1	39	1	0	0	0	0	0	0	0	1	12424	1074	38	1		1	PPP1R3F	23	49126932	Silent	SNP	G	TCGA-DB-A4XH-01A-11D-A27K-08	29758778	49126932	106143628	58	1679											
ZC3H12B	340554	broad.mit.edu	37	X	64721964	64721964	+	Silent	SNP	C	C	A			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chrX:64721964C>A	ENST00000338957.4	+	5	1453	c.1386C>A	c.(1384-1386)gtC>gtA	p.V462V	ZC3H12B_ENST00000423889.3_Silent_p.V451V	NM_001010888.3	NP_001010888.3	Q5HYM0	ZC12B_HUMAN	zinc finger CCCH-type containing 12B	451							endonuclease activity|nucleic acid binding|zinc ion binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CTAGTTCTGTCCCCTCGCTTG	0.607													12	116					0.38729	0.38729	1	1	0	A	64721964	C	A	64721964	2	1	39	1	0	0	0	0	0	0	0	1	17621	842	30	5		5	ZC3H12B	23	64721964	Silent	SNP	C	TCGA-DB-A4XH-01A-11D-A27K-08	15595032	64721964	90548596	59	1680											
DCAF12L2	340578	broad.mit.edu	37	X	125299120	125299120	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chrX:125299120C>T	ENST00000538699.1	-	2	868	c.788G>A	c.(787-789)cGc>cAc	p.R263H	DCAF12L2_ENST00000360028.2_Missense_Mutation_p.R263H	NM_001013628.2	NP_001013650.1	Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	263										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						CCGTACCTTGCGGTTGCTGGG	0.637													5	91					0	0	1	0	0	T	125299120	C	T	125299120	3	4	39	1	0	0	0	0	1	0	0	0	4289	768	27	1	607	1	DCAF12L2	23	125299120	Missense_Mutation	SNP	C	TCGA-DB-A4XH-01A-11D-A27K-08	60577156	125299120	29971440	60	1681											
ZNF280C	55609	broad.mit.edu	37	X	129354412	129354412	+	Silent	SNP	A	A	G			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chrX:129354412A>G	ENST00000370978.4	-	13	1591	c.1438T>C	c.(1438-1440)Ttg>Ctg	p.L480L		NM_017666.4	NP_060136.1	Q8ND82	Z280C_HUMAN	zinc finger protein 280C	480					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(4)|large_intestine(9)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	26						TTGCTGGTCAAAAATTGTAGT	0.393													9	156					0	0	1	0	0	G	129354412	A	G	129354412	2	3	39	1	0	0	0	0	0	0	0	1	17874	11	1	3		3	ZNF280C	23	129354412	Silent	SNP	A	TCGA-DB-A4XH-01A-11D-A27K-08	4055292	129354412	25916148	61	1682											
PLAC1	10761	broad.mit.edu	37	X	133700590	133700590	+	Silent	SNP	G	G	C			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chrX:133700590G>C	ENST00000359237.4	-	3	408	c.123C>G	c.(121-123)ccC>ccG	p.P41P	PLAC1_ENST00000476971.1_5'UTR	NM_021796.3	NP_068568.1	Q9HBJ0	PLAC1_HUMAN	placenta-specific 1	41					placenta development	extracellular region				large_intestine(4)|lung(1)|pancreas(1)	6	Acute lymphoblastic leukemia(192;0.000127)					TTAGCATGAAGGGGTGCACTG	0.517													129	172					0	0	1	0	0	C	133700590	G	C	133700590	2	2	39	1	0	0	0	0	0	0	0	1	12060	987	35	4		4	PLAC1	23	133700590	Silent	SNP	G	TCGA-DB-A4XH-01A-11D-A27K-08	4346178	133700590	21569970	62	1683											
SPANXD	64648	broad.mit.edu	37	X	140785691	140785691	+	Missense_Mutation	SNP	G	G	T			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chrX:140785691G>T	ENST00000370515.3	-	2	558	c.225C>A	c.(223-225)aaC>aaA	p.N75K		NM_032417.2|NM_145665.1	NP_115793.1|NP_663698.1			SPANX family, member D											breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	9	Acute lymphoblastic leukemia(192;7.65e-05)					GGTTGATTCTGTTCTTTCGGG	0.443													22	335					2.27525e-19	2.44762e-19	1	1	0	T	140785691	G	T	140785691	3	4	39	1	0	0	0	0	1	0	0	0	15044	1368	48	5	72	5	SPANXD	23	140785691	Missense_Mutation	SNP	G	TCGA-DB-A4XH-01A-11D-A27K-08	7085101	140785691	14484869	63	1684											
PNMA3	29944	broad.mit.edu	37	X	152226071	152226071	+	Missense_Mutation	SNP	T	T	C			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chrX:152226071T>C	ENST00000447306.1	+	2	995	c.659T>C	c.(658-660)cTc>cCc	p.L220P	PNMA3_ENST00000370264.4_Missense_Mutation_p.L220P|PNMA3_ENST00000370265.4_Missense_Mutation_p.L220P	NM_013364.4	NP_037496.4	Q9UL41	PNMA3_HUMAN	paraneoplastic Ma antigen 3	220					apoptosis	nucleolus	nucleic acid binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	16	Acute lymphoblastic leukemia(192;6.56e-05)					gtcagtgggctccgggccagc	0.592													8	219					0	0	1	0	0	C	152226071	T	C	152226071	3	2	39	1	0	0	0	0	1	0	0	0	12203	1551	54	3	661	3	PNMA3	23	152226071	Missense_Mutation	SNP	T	TCGA-DB-A4XH-01A-11D-A27K-08	11440380	152226071	3044489	64	1685											
PTCH2	8643	broad.mit.edu	37	1	45291949	45291949	+	Silent	SNP	G	G	A			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr1:45291949G>A	ENST00000447098.2	-	19	3098	c.3087C>T	c.(3085-3087)ggC>ggT	p.G1029G	PTCH2_ENST00000372192.3_Silent_p.G1029G	NM_001166292.1	NP_001159764.1	Q9Y6C5	PTC2_HUMAN	patched 2	1029					protein complex assembly|spermatogenesis	integral to plasma membrane	hedgehog receptor activity			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50	Acute lymphoblastic leukemia(166;0.155)					TGAACTCAACGCCAATGCCTA	0.542									Basal Cell Nevus syndrome				20	20					0	0	1	0	0	A	45291949	G	A	45291949	2	1	40	1	0	0	0	0	0	0	0	1	12780	1074	38	1		1	PTCH2	1	45291949	Silent	SNP	G	TCGA-DB-A64L-01A-11D-A29Q-08		45291949	203958672	1	1686											
FUBP1	8880	broad.mit.edu	37	1	78432436	78432436	+	Splice_Site	SNP	C	C	T			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr1:78432436C>T	ENST00000370767.1	-	7	503		c.e7-1		FUBP1_ENST00000436586.2_Splice_Site|FUBP1_ENST00000370768.2_Splice_Site			Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1						transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						CCACCACTGTCTACAATTTAA	0.318			"F, N"		oligodendroglioma								9	14					0	0	1	0	0	T	78432436	C	T	78432436	5	4	40	1	0	0	0	0	0	0	1	0	6127	927	32	2	1575	2	FUBP1	1	78432436	Splice_Site	SNP	C	TCGA-DB-A64L-01A-11D-A29Q-08	33140487	78432436	170818185	2	1687											
FLG	2312	broad.mit.edu	37	1	152280318	152280318	+	Silent	SNP	G	G	A	rs147071702	byFrequency	TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr1:152280318G>A	ENST00000368799.1	-	3	7079	c.7044C>T	c.(7042-7044)caC>caT	p.H2348H	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2348	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AAGCTTGTCCGTGCCCAATGC	0.552									Ichthyosis				6	636					0	0	1	0	0	A	152280318	G	A	152280318	2	1	40	1	0	0	0	0	0	0	0	1	5955	1136	40	1		1	FLG	1	152280318	Silent	SNP	G	TCGA-DB-A64L-01A-11D-A29Q-08	73847882	152280318	96970303	3	1688											
FLG	2312	broad.mit.edu	37	1	152285513	152285513	+	Missense_Mutation	SNP	G	G	C			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr1:152285513G>C	ENST00000368799.1	-	3	1884	c.1849C>G	c.(1849-1851)Cag>Gag	p.Q617E	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	617	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGGATCCCTGGTTCCTACTT	0.552									Ichthyosis				13	492					0	0	1	0	0	C	152285513	G	C	152285513	3	2	40	1	0	0	0	0	1	0	0	0	5955	1357	47	5	10340	5	FLG	1	152285513	Missense_Mutation	SNP	G	TCGA-DB-A64L-01A-11D-A29Q-08	5195	152285513	96965108	4	1689											
OR10J1	26476	broad.mit.edu	37	1	159409585	159409586	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr1:159409585_159409586delAA	ENST00000423932.3	+	1	74_75	c.37_38delAA	c.(37-39)aaafs	p.K13fs	RP11-550P17.5_ENST00000431862.1_RNA	NM_012351.2	NP_036483.2	P30954	O10J1_HUMAN	olfactory receptor, family 10, subfamily J, member 1	13					sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|stomach(1)	25	all_hematologic(112;0.0429)					CCAATCCATGAAAAGAGAGAAC	0.386													13	85	---	---	---	---						-	159409586	AA	-	159409585	7	5	40	1	0	1	0	1	0	0	0	0	10958	247	9	0	39	0	OR10J1	1	159409585	Frame_Shift_Del	DEL	AA	TCGA-DB-A64L-01A-11D-A29Q-08	7124072	159409585	89841036	5	1690											
IGSF8	93185	broad.mit.edu	37	1	160062140	160062140	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr1:160062140G>A	ENST00000368086.1	-	5	1874	c.1658C>T	c.(1657-1659)gCc>gTc	p.A553V	IGSF8_ENST00000314485.7_Missense_Mutation_p.A553V			Q969P0	IGSF8_HUMAN	immunoglobulin superfamily, member 8	553	Ig-like C2-type 4.				cell proliferation|cellular component movement|nervous system development|single fertilization|skeletal muscle tissue development	integral to membrane	protein binding	p.A553V(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(19)|pancreas(1)|prostate(1)|skin(1)	33	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			GCTGTAGTCGGCATGCTGCAC	0.647													4	165					0	0	1	0	0	A	160062140	G	A	160062140	3	1	40	1	0	0	0	0	1	0	0	0	7648	1203	42	2	191	2	IGSF8	1	160062140	Missense_Mutation	SNP	G	TCGA-DB-A64L-01A-11D-A29Q-08	652555	160062140	89188481	6	1691											
ATP1A4	480	broad.mit.edu	37	1	160136482	160136482	+	Silent	SNP	C	C	T			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr1:160136482C>T	ENST00000368081.4	+	8	1683	c.1212C>T	c.(1210-1212)acC>acT	p.T404T		NM_144699.3	NP_653300.2	Q13733	AT1A4_HUMAN	ATPase, Na+/K+ transporting, alpha 4 polypeptide	404					ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility	sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TTGATATGACCGTGTATGAGG	0.562													7	139					0	0	1	0	0	T	160136482	C	T	160136482	2	4	40	1	0	0	0	0	0	0	0	1	1130	639	23	1		1	ATP1A4	1	160136482	Silent	SNP	C	TCGA-DB-A64L-01A-11D-A29Q-08	74342	160136482	89114139	7	1692											
FCRLA	84824	broad.mit.edu	37	1	161681131	161681131	+	Silent	SNP	C	C	T			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr1:161681131C>T	ENST00000540926.1	+	4	677	c.384C>T	c.(382-384)ccC>ccT	p.P128P	FCRLA_ENST00000540521.1_Intron|FCRLA_ENST00000546024.1_Intron|FCRLA_ENST00000367953.3_Silent_p.P128P|FCRLA_ENST00000367949.2_Intron|FCRLA_ENST00000236938.6_Silent_p.P139P|FCRLA_ENST00000367950.1_Intron|FCRLA_ENST00000367957.2_Intron|FCRLA_ENST00000367959.2_Silent_p.P145P|FCRLA_ENST00000350710.3_Intron|FCRLA_ENST00000294796.4_Intron|FCRLA_ENST00000309691.6_Intron|FCRLA_ENST00000349527.4_Silent_p.P122P|FCRLA_ENST00000470841.1_3'UTR			Q7L513	FCRLA_HUMAN	Fc receptor-like A	122	Ig-like C2-type 1.				cell differentiation	cytoplasm|extracellular region				breast(1)|kidney(12)|large_intestine(4)|lung(13)|prostate(1)|skin(2)|stomach(1)	34	all_cancers(52;2.55e-15)|all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00301)			TGGGTCCCCCCGGGCCTAACA	0.602													31	72					0	0	1	0	0	T	161681131	C	T	161681131	2	4	40	1	0	0	0	0	0	0	0	1	5833	639	23	1		1	FCRLA	1	161681131	Silent	SNP	C	TCGA-DB-A64L-01A-11D-A29Q-08	1544649	161681131	87569490	8	1693											
KLHL20	27252	broad.mit.edu	37	1	173726268	173726268	+	Missense_Mutation	SNP	A	A	T			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr1:173726268A>T	ENST00000209884.4	+	7	1257	c.1121A>T	c.(1120-1122)gAt>gTt	p.D374V	KLHL20_ENST00000546011.1_Missense_Mutation_p.D185V	NM_014458.3	NP_055273.2	Q9Y2M5	KLH20_HUMAN	kelch-like family member 20	374					cytoskeleton organization|negative regulation of apoptosis|proteasomal ubiquitin-dependent protein catabolic process|response to interferon-alpha	actin cytoskeleton|cell surface|Cul3-RING ubiquitin ligase complex|Golgi apparatus|perinuclear region of cytoplasm|PML body	actin binding|interferon-gamma binding|ubiquitin-protein ligase activity			breast(3)|endometrium(6)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|upper_aerodigestive_tract(1)	34						GGAGGCCATGATGGATCCTCT	0.383													4	121					0	0	1	0	0	T	173726268	A	T	173726268	3	4	40	1	0	0	0	0	1	0	0	0	8418	333	12	4	1143	4	KLHL20	1	173726268	Missense_Mutation	SNP	A	TCGA-DB-A64L-01A-11D-A29Q-08	12045137	173726268	75524353	9	1694											
HMCN1	83872	broad.mit.edu	37	1	186092329	186092329	+	Missense_Mutation	SNP	C	C	G			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr1:186092329C>G	ENST00000271588.4	+	81	12705	c.12476C>G	c.(12475-12477)aCa>aGa	p.T4159R	HMCN1_ENST00000367492.2_Missense_Mutation_p.T4159R	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	4159	Ig-like C2-type 40.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TCAAGCAGCACAAGCACCAAG	0.493													7	25					0	0	1	0	0	G	186092329	C	G	186092329	3	3	40	1	0	0	0	0	1	0	0	0	7261	478	17	5	12798	5	HMCN1	1	186092329	Missense_Mutation	SNP	C	TCGA-DB-A64L-01A-11D-A29Q-08	12366061	186092329	63158292	10	1695											
USH2A	7399	broad.mit.edu	37	1	215972309	215972309	+	Missense_Mutation	SNP	C	C	A			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr1:215972309C>A	ENST00000366943.2	-	50	10284	c.9898G>T	c.(9898-9900)Gtg>Ttg	p.V3300L	USH2A_ENST00000307340.3_Missense_Mutation_p.V3300L			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3300					maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TCGTTGCTCACAATCTGTCTG	0.527										HNSCC(13;0.011)			5	115					0.000602214	0.000634394	1	1	0	A	215972309	C	A	215972309	3	1	40	1	0	0	0	0	1	0	0	0	17096	478	17	5	5802	5	USH2A	1	215972309	Missense_Mutation	SNP	C	TCGA-DB-A64L-01A-11D-A29Q-08	29879980	215972309	33278312	11	1696											
ABCB10	23456	broad.mit.edu	37	1	229666080	229666080	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr1:229666080C>T	ENST00000344517.4	-	8	1553	c.1511G>A	c.(1510-1512)cGc>cAc	p.R504H		NM_012089.2	NP_036221.2	Q9NRK6	ABCBA_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 10	504	ABC transporter.					integral to mitochondrial membrane|mitochondrial inner membrane	ATP binding|oligopeptide-transporting ATPase activity			breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)	31	Breast(184;0.143)|Ovarian(103;0.249)	Prostate(94;0.167)				CACCTCTGGGCGAGCTGGATA	0.458													51	174					0	0	1	0	0	T	229666080	C	T	229666080	3	4	40	1	0	0	0	0	1	0	0	0	41	768	27	1	729	1	ABCB10	1	229666080	Missense_Mutation	SNP	C	TCGA-DB-A64L-01A-11D-A29Q-08	13693771	229666080	19584541	12	1697											
GALNT14	79623	broad.mit.edu	37	2	31215747	31215747	+	Missense_Mutation	SNP	G	G	A	rs143970227		TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr2:31215747G>A	ENST00000349752.5	-	2	895	c.256C>T	c.(256-258)Cgg>Tgg	p.R86W	GALNT14_ENST00000324589.5_Intron|GALNT14_ENST00000406653.1_Missense_Mutation_p.R66W|GALNT14_ENST00000356174.3_Missense_Mutation_p.R86W|GALNT14_ENST00000420311.2_Missense_Mutation_p.R51W	NM_024572.3	NP_078848.2	Q96FL9	GLT14_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14)	86						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)	43	Acute lymphoblastic leukemia(172;0.155)					CTGGAGATCCGCTCACTCTCC	0.557													13	131					0	0	1	0	0	A	31215747	G	A	31215747	3	1	40	1	0	0	0	0	1	0	0	0	6252	1086	38	1	1458	1	GALNT14	2	31215747	Missense_Mutation	SNP	G	TCGA-DB-A64L-01A-11D-A29Q-08		31215747	211983626	13	1698											
PROKR1	10887	broad.mit.edu	37	2	68873234	68873234	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr2:68873234G>A	ENST00000303786.3	+	2	701	c.281G>A	c.(280-282)cGc>cAc	p.R94H	PROKR1_ENST00000394342.2_Missense_Mutation_p.R94H			Q8TCW9	PKR1_HUMAN	prokineticin receptor 1	94						integral to membrane|plasma membrane	neuropeptide Y receptor activity			endometrium(3)|kidney(2)|large_intestine(14)|lung(9)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						AAGAAACTGCGCAACCTCACC	0.557													18	212					0	0	1	0	0	A	68873234	G	A	68873234	3	1	40	1	0	0	0	0	1	0	0	0	12604	1087	38	1	283	1	PROKR1	2	68873234	Missense_Mutation	SNP	G	TCGA-DB-A64L-01A-11D-A29Q-08	37657487	68873234	174326139	14	1699											
ADRA2B	151	broad.mit.edu	37	2	96781415	96781415	+	Silent	SNP	C	C	T			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr2:96781415C>T	ENST00000409345.3	-	1	569	c.474G>A	c.(472-474)ccG>ccA	p.P158P		NM_000682.5	NP_000673	P18089	ADA2B_HUMAN	adrenoceptor alpha 2B	158					activation of MAPK activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cell-cell signaling|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|negative regulation of epinephrine secretion|negative regulation of norepinephrine secretion|positive regulation of neuron differentiation	integral to plasma membrane	alpha2-adrenergic receptor activity|epinephrine binding|protein binding			endometrium(2)|large_intestine(2)|lung(9)|ovary(3)	16					Bethanidine(DB00217)|Brimonidine(DB00484)|Debrisoquin(DB04840)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Lofexidine(DB04948)|Norepinephrine(DB00368)|Yohimbine(DB01392)	GGCGCCCGCGCGGCTGGGGGC	0.637													10	52					0	0	1	0	0	T	96781415	C	T	96781415	2	4	40	1	0	0	0	0	0	0	0	1	337	755	27	1		1	ADRA2B	2	96781415	Silent	SNP	C	TCGA-DB-A64L-01A-11D-A29Q-08	27908181	96781415	146417958	15	1700											
SLC5A7	60482	broad.mit.edu	37	2	108604713	108604713	+	Silent	SNP	C	C	T			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr2:108604713C>T	ENST00000264047.2	+	2	378	c.102C>T	c.(100-102)agC>agT	p.S34S	SLC5A7_ENST00000540517.1_Intron|SLC5A7_ENST00000409059.1_Silent_p.S34S	NM_021815.2	NP_068587.1	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (sodium/choline cotransporter), member 7	34					acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	ACAGTGGCAGCGCAGAAGAGC	0.502													30	75					0	0	1	0	0	T	108604713	C	T	108604713	2	4	40	1	0	0	0	0	0	0	0	1	14725	767	27	1		1	SLC5A7	2	108604713	Silent	SNP	C	TCGA-DB-A64L-01A-11D-A29Q-08	11823298	108604713	134594660	16	1701											
SP3	6670	broad.mit.edu	37	2	174777827	174777827	+	Missense_Mutation	SNP	T	T	C			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr2:174777827T>C	ENST00000310015.6	-	6	2530	c.2000A>G	c.(1999-2001)gAa>gGa	p.E667G	SP3_ENST00000455789.2_Missense_Mutation_p.E614G|SP3_ENST00000418194.2_Missense_Mutation_p.E599G	NM_001172712.1|NM_003111.4	NP_001166183.1|NP_003102.1	Q02447	SP3_HUMAN	Sp3 transcription factor	667					negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	protein binding|zinc ion binding		EWSR1/SP3(3)	NS(2)|large_intestine(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.185)			CCTCTGTAATTCATCACTTCG	0.378													11	44					0	0	1	0	0	C	174777827	T	C	174777827	3	2	40	1	0	0	0	0	1	0	0	0	15019	1783	62	3	353	3	SP3	2	174777827	Missense_Mutation	SNP	T	TCGA-DB-A64L-01A-11D-A29Q-08	66173114	174777827	68421546	17	1702											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								21	42					0	0	1	0	0	T	209113112	C	T	209113112	3	4	40	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-DB-A64L-01A-11D-A29Q-08	34335285	209113112	34086261	18	1703											
UGT1A3	54659	broad.mit.edu	37	2	234638340	234638340	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr2:234638340C>T	ENST00000482026.1	+	1	587	c.568C>T	c.(568-570)Cct>Tct	p.P190S	UGT1A6_ENST00000373424.1_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A1_ENST00000609767.1_Missense_Mutation_p.P190S|UGT1A6_ENST00000406651.1_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A1_ENST00000609637.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A4_ENST00000373409.3_Intron|UGT1A1_ENST00000373450.4_Intron|UGT1A1_ENST00000608381.1_Intron																breast(2)|endometrium(7)|kidney(18)|large_intestine(6)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	46		Breast(86;0.000765)|all_lung(227;0.00266)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0456)|Lung SC(224;0.128)		Epithelial(121;2.4e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000476)|Lung(119;0.00243)|LUSC - Lung squamous cell carcinoma(224;0.00599)		GTGTCCAAACCCTTCCTCCTA	0.453													5	246					0	0	1	0	0	T	234638340	C	T	234638340	3	4	40	1	0	0	0	0	1	0	0	0	17006	623	22	2	570	2	UGT1A3	2	234638340	Missense_Mutation	SNP	C	TCGA-DB-A64L-01A-11D-A29Q-08	25525228	234638340	8561033	19	1704											
UGT1A3	54659	broad.mit.edu	37	2	234638622	234638622	+	Missense_Mutation	SNP	A	A	G			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr2:234638622A>G	ENST00000482026.1	+	1	869	c.850A>G	c.(850-852)Agg>Ggg	p.R284G	UGT1A6_ENST00000373424.1_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A1_ENST00000609767.1_Missense_Mutation_p.R284G|UGT1A6_ENST00000406651.1_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A1_ENST00000609637.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A4_ENST00000373409.3_Intron|UGT1A1_ENST00000373450.4_Intron|UGT1A1_ENST00000608381.1_Intron																breast(2)|endometrium(7)|kidney(18)|large_intestine(6)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	46		Breast(86;0.000765)|all_lung(227;0.00266)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0456)|Lung SC(224;0.128)		Epithelial(121;2.4e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000476)|Lung(119;0.00243)|LUSC - Lung squamous cell carcinoma(224;0.00599)		CTGTGCCAACAGGAAGCCACT	0.438													5	160					0	0	1	0	0	G	234638622	A	G	234638622	3	3	40	1	0	0	0	0	1	0	0	0	17006	179	7	3	852	3	UGT1A3	2	234638622	Missense_Mutation	SNP	A	TCGA-DB-A64L-01A-11D-A29Q-08	282	234638622	8560751	20	1705											
TIMP4	7079	broad.mit.edu	37	3	12195065	12195065	+	Missense_Mutation	SNP	G	G	A	rs144326666	byFrequency	TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr3:12195065G>A	ENST00000287814.4	-	5	1135	c.625C>T	c.(625-627)Cgg>Tgg	p.R209W	SYN2_ENST00000432424.2_RNA	NM_003256.3	NP_003247.1	Q99727	TIMP4_HUMAN	TIMP metallopeptidase inhibitor 4	209							metal ion binding|metalloendopeptidase inhibitor activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	11						AGGTGGCCCCGGTACCAGCTG	0.532													5	181					0	0	1	0	0	A	12195065	G	A	12195065	3	1	40	1	0	0	0	0	1	0	0	0	15980	1115	39	1	53	1	TIMP4	3	12195065	Missense_Mutation	SNP	G	TCGA-DB-A64L-01A-11D-A29Q-08		12195065	185827365	21	1706											
TRIM71	131405	broad.mit.edu	37	3	32932670	32932670	+	Silent	SNP	C	C	T			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr3:32932670C>T	ENST00000383763.5	+	4	2037	c.1974C>T	c.(1972-1974)ggC>ggT	p.G658G		NM_001039111.1	NP_001034200.1	Q2Q1W2	LIN41_HUMAN	tripartite motif containing 71, E3 ubiquitin protein ligase						multicellular organismal development	cytoplasm	zinc ion binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GACCAGCCGGCGTGGCCTGTG	0.622													26	62					0	0	1	0	0	T	32932670	C	T	32932670	2	4	40	1	0	0	0	0	0	0	0	1	16605	755	27	1		1	TRIM71	3	32932670	Silent	SNP	C	TCGA-DB-A64L-01A-11D-A29Q-08	20737605	32932670	165089760	22	1707											
GTPBP8	29083	broad.mit.edu	37	3	112709901	112709901	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr3:112709901G>A	ENST00000383677.3	+	1	70	c.55G>A	c.(55-57)Gtg>Atg	p.V19M	GTPBP8_ENST00000383678.2_Missense_Mutation_p.V19M|RP11-484K9.4_ENST00000609673.1_RNA	NM_138485.1	NP_612494.1	Q8N3Z3	GTPB8_HUMAN	GTP-binding protein 8 (putative)	19					barrier septum formation		GTP binding			kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	6						AATGCCTGCGGTGCTAGAGCG	0.607													38	37					0	0	1	0	0	A	112709901	G	A	112709901	3	1	40	1	0	0	0	0	1	0	0	0	6925	1261	44	2	57	2	GTPBP8	3	112709901	Missense_Mutation	SNP	G	TCGA-DB-A64L-01A-11D-A29Q-08	79777231	112709901	85312529	23	1708											
RABL3	285282	broad.mit.edu	37	3	120417392	120417392	+	Missense_Mutation	SNP	T	T	A			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr3:120417392T>A	ENST00000273375.3	-	5	441	c.412A>T	c.(412-414)Aac>Tac	p.N138Y	RABL3_ENST00000491398.1_5'UTR|RABL3_ENST00000483733.1_Missense_Mutation_p.N138Y	NM_173825.3	NP_776186.2	Q5HYI8	RABL3_HUMAN	RAB, member of RAS oncogene family-like 3	138	Small GTPase-like.				small GTPase mediated signal transduction		GTP binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)	17				GBM - Glioblastoma multiforme(114;0.151)		GGTATTTGGTTATCAGCAAAC	0.363													73	157					0	0	1	0	0	A	120417392	T	A	120417392	3	1	40	1	0	0	0	0	1	0	0	0	13024	1754	61	5	314	5	RABL3	3	120417392	Missense_Mutation	SNP	T	TCGA-DB-A64L-01A-11D-A29Q-08	7707491	120417392	77605038	24	1709											
KALRN	8997	broad.mit.edu	37	3	124385314	124385314	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr3:124385314G>A	ENST00000291478.5	+	13	1433	c.1270G>A	c.(1270-1272)Ggg>Agg	p.G424R	KALRN_ENST00000428018.2_Missense_Mutation_p.G392R|KALRN_ENST00000393496.1_Missense_Mutation_p.G462R|KALRN_ENST00000459915.1_Missense_Mutation_p.G213R|KALRN_ENST00000360013.3_Missense_Mutation_p.G2121R	NM_007064.3	NP_008995.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase						apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						GACTGCTCAGGGGAAGCTGCT	0.572													4	50					0	0	1	0	0	A	124385314	G	A	124385314	3	1	40	1	0	0	0	0	1	0	0	0	8019	1232	43	2	6699	2	KALRN	3	124385314	Missense_Mutation	SNP	G	TCGA-DB-A64L-01A-11D-A29Q-08	3967922	124385314	73637116	25	1710											
PLD1	5337	broad.mit.edu	37	3	171455769	171455769	+	Missense_Mutation	SNP	T	T	A			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr3:171455769T>A	ENST00000356327.5	-	2	143	c.73A>T	c.(73-75)Ata>Tta	p.I25L	PLD1_ENST00000342215.6_Missense_Mutation_p.I25L|PLD1_ENST00000351298.4_Missense_Mutation_p.I25L|PLD1_ENST00000340989.4_Missense_Mutation_p.I25L	NM_001130081.2	NP_001123553.1	Q13393	PLD1_HUMAN	phospholipase D1, phosphatidylcholine-specific	25					cell communication|chemotaxis|Ras protein signal transduction	endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	AGATTTTCTATGATATTACTC	0.458													23	66					0	0	1	0	0	A	171455769	T	A	171455769	3	1	40	1	0	0	0	0	1	0	0	0	12093	1464	51	4	3255	4	PLD1	3	171455769	Missense_Mutation	SNP	T	TCGA-DB-A64L-01A-11D-A29Q-08	47070455	171455769	26566661	26	1711											
EPHA5	2044	broad.mit.edu	37	4	66361141	66361141	+	Missense_Mutation	SNP	C	C	A			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr4:66361141C>A	ENST00000273854.3	-	4	1631	c.1031G>T	c.(1030-1032)aGg>aTg	p.R344M	EPHA5_ENST00000354839.4_Missense_Mutation_p.R344M|EPHA5_ENST00000511294.1_Missense_Mutation_p.R344M|EPHA5_ENST00000432638.2_Intron	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	344	Cys-rich.				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						AGACTCTCTCCTGAAATAATC	0.463										TSP Lung(17;0.13)			15	140					5.3912e-06	5.72297e-06	1	1	0	A	66361141	C	A	66361141	3	1	40	1	0	0	0	0	1	0	0	0	5198	681	24	4	2142	4	EPHA5	4	66361141	Missense_Mutation	SNP	C	TCGA-DB-A64L-01A-11D-A29Q-08		66361141	124793135	27	1712											
ADH1B	125	broad.mit.edu	37	4	100235199	100235199	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr4:100235199C>T	ENST00000305046.8	-	6	674	c.607G>A	c.(607-609)Ggg>Agg	p.G203R	ADH1B_ENST00000394887.3_Missense_Mutation_p.G163R			P00325	ADH1B_HUMAN	alcohol dehydrogenase 1B (class I), beta polypeptide	203					ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	33				OV - Ovarian serous cystadenocarcinoma(123;1.02e-07)	Fomepizole(DB01213)|NADH(DB00157)	AGGCCGACCCCTCCCAGGCCA	0.468													6	309					0	0	1	0	0	T	100235199	C	T	100235199	3	4	40	1	0	0	0	0	1	0	0	0	307	681	24	2	536	2	ADH1B	4	100235199	Missense_Mutation	SNP	C	TCGA-DB-A64L-01A-11D-A29Q-08	33874058	100235199	90919077	28	1713											
OSMR	9180	broad.mit.edu	37	5	38923283	38923283	+	Silent	SNP	C	C	T			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr5:38923283C>T	ENST00000274276.3	+	13	2199	c.1797C>T	c.(1795-1797)ttC>ttT	p.F599F		NM_003999.2	NP_003990.1	Q99650	OSMR_HUMAN	oncostatin M receptor	599	Fibronectin type-III 3.				cell proliferation|positive regulation of cell proliferation	oncostatin-M receptor complex	growth factor binding|oncostatin-M receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46	all_lung(31;0.000365)					GATATGACTTCAGAATTTATG	0.328													22	42					0	0	1	0	0	T	38923283	C	T	38923283	2	4	40	1	0	0	0	0	0	0	0	1	11339	825	29	2		2	OSMR	5	38923283	Silent	SNP	C	TCGA-DB-A64L-01A-11D-A29Q-08		38923283	141991977	29	1714											
PCDHGA1	56114	broad.mit.edu	37	5	140710720	140710720	+	Missense_Mutation	SNP	G	G	T			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr5:140710720G>T	ENST00000517417.1	+	1	469	c.469G>T	c.(469-471)Ggg>Tgg	p.G157W	PCDHGA1_ENST00000378105.3_Missense_Mutation_p.G157W	NM_018912.2	NP_061735.1														breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATTGCCTTTTGGGCAAGACCT	0.458													23	134					1.55795e-14	1.70632e-14	1	1	0	T	140710720	G	T	140710720	3	4	40	1	0	0	0	0	1	0	0	0	11597	1348	47	5	471	5	PCDHGA1	5	140710720	Missense_Mutation	SNP	G	TCGA-DB-A64L-01A-11D-A29Q-08	101787437	140710720	40204540	30	1715											
KIF4B	285643	broad.mit.edu	37	5	154395932	154395932	+	Missense_Mutation	SNP	A	A	T			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr5:154395932A>T	ENST00000435029.4	+	1	2673	c.2513A>T	c.(2512-2514)cAg>cTg	p.Q838L		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	838	Interaction with PRC1 (By similarity).				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			GCTGACCTACAGCAGAAGCTG	0.433													4	59					0	0	1	0	0	T	154395932	A	T	154395932	3	4	40	1	0	0	0	0	1	0	0	0	8346	188	7	5	2515	5	KIF4B	5	154395932	Missense_Mutation	SNP	A	TCGA-DB-A64L-01A-11D-A29Q-08	13685212	154395932	26519328	31	1716											
GCNT2	2651	broad.mit.edu	37	6	10529180	10529180	+	Silent	SNP	G	G	A	rs142352495	by1000genomes	TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr6:10529180G>A	ENST00000379597.3	+	1	592	c.36G>A	c.(34-36)gcG>gcA	p.A12A	GCNT2_ENST00000495262.1_Silent_p.A12A|GCNT2_ENST00000410107.1_Intron|GCNT2_ENST00000397423.2_Intron			Q8N0V5	GNT2A_HUMAN	glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)	12						Golgi membrane|integral to membrane	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)	12	Ovarian(93;0.107)|Breast(50;0.148)	all_hematologic(90;0.107)		KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119)		TTTTTAGCGCGTCTCTTATCT	0.388													11	90					0	0	1	0	0	A	10529180	G	A	10529180	2	1	40	1	0	0	0	0	0	0	0	1	6341	1132	40	1		1	GCNT2	6	10529180	Silent	SNP	G	TCGA-DB-A64L-01A-11D-A29Q-08		10529180	160585887	32	1717											
HLA-F	3134	broad.mit.edu	37	6	29692052	29692052	+	Missense_Mutation	SNP	C	C	G			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr6:29692052C>G	ENST00000440587.2	+	3	442	c.83C>G	c.(82-84)tCc>tGc	p.S28C	HLA-F_ENST00000259951.7_Missense_Mutation_p.S146C|HLA-F_ENST00000376861.1_Missense_Mutation_p.S146C|HLA-F_ENST00000434407.2_Missense_Mutation_p.S146C|HLA-F_ENST00000334668.4_Missense_Mutation_p.S146C			P30511	HLAF_HUMAN	major histocompatibility complex, class I, F	146	Alpha-1.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex	MHC class I receptor activity			cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8						GATTACATCTCCCTGAACGAG	0.622													8	178					0	0	1	0	0	G	29692052	C	G	29692052	3	3	40	1	0	0	0	0	1	0	0	0	7252	855	30	5	447	5	HLA-F	6	29692052	Missense_Mutation	SNP	C	TCGA-DB-A64L-01A-11D-A29Q-08	19162872	29692052	141423015	33	1718											
TINAG	27283	broad.mit.edu	37	6	54173456	54173456	+	Silent	SNP	T	T	C			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr6:54173456T>C	ENST00000259782.4	+	1	204	c.108T>C	c.(106-108)acT>acC	p.T36T	TINAG_ENST00000370869.3_Silent_p.T32T|TINAG_ENST00000370864.3_Silent_p.T18T|TINAG_ENST00000486436.1_3'UTR	NM_014464.3	NP_055279.3	Q9UJW2	TINAG_HUMAN	tubulointerstitial nephritis antigen	36					cell adhesion|immune response|Malpighian tubule morphogenesis|proteolysis	basement membrane	cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34	Lung NSC(77;0.0518)		LUSC - Lung squamous cell carcinoma(124;0.246)			CTTATTTCACTAGGAATCACA	0.393													14	107					0	0	1	0	0	C	54173456	T	C	54173456	2	2	40	1	0	0	0	0	0	0	0	1	15981	1509	53	3		3	TINAG	6	54173456	Silent	SNP	T	TCGA-DB-A64L-01A-11D-A29Q-08	24481404	54173456	116941611	34	1719											
ICA1	3382	broad.mit.edu	37	7	8167703	8167703	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr7:8167703C>T	ENST00000402384.3	-	13	1396	c.1130G>A	c.(1129-1131)aGt>aAt	p.S377N	ICA1_ENST00000422063.2_Missense_Mutation_p.S406N|ICA1_ENST00000396675.3_Missense_Mutation_p.S377N|ICA1_ENST00000406470.2_Missense_Mutation_p.S377N|ICA1_ENST00000265577.7_Missense_Mutation_p.S376N|ICA1_ENST00000401396.1_Missense_Mutation_p.S365N			Q05084	ICA69_HUMAN	islet cell autoantigen 1, 69kDa	377					neurotransmitter transport	cell junction|cytosol|Golgi membrane|nucleus|secretory granule membrane|synaptic vesicle membrane|transport vesicle membrane				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	23		Ovarian(82;0.0612)		UCEC - Uterine corpus endometrioid carcinoma (126;0.246)		GAAGATCTCACTCAACAGCAG	0.542													5	221					0	0	1	0	0	T	8167703	C	T	8167703	3	4	40	1	0	0	0	0	1	0	0	0	7521	565	20	2	329	2	ICA1	7	8167703	Missense_Mutation	SNP	C	TCGA-DB-A64L-01A-11D-A29Q-08		8167703	150970960	35	1720											
HOXA11	3207	broad.mit.edu	37	7	27224590	27224590	+	Silent	SNP	G	G	A			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr7:27224590G>A	ENST00000006015.3	-	1	245	c.174C>T	c.(172-174)cgC>cgT	p.R58R	HOXA11-AS_ENST00000520360.1_RNA|HOXA11-AS_ENST00000522863.1_RNA	NM_005523.5	NP_005514.1	P31270	HXA11_HUMAN	homeobox A11	58					branching involved in ureteric bud morphogenesis|cartilage development involved in endochondral bone morphogenesis|developmental growth|dorsal/ventral pattern formation|mesodermal cell fate specification|positive regulation of cell development|positive regulation of chondrocyte differentiation	protein-DNA complex|transcription factor complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	16						AGGTCACTTCGCGCACGGGTT	0.612			T	NUP98	CML						OREG0003747	type=REGULATORY REGION|Gene=BC025338|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	21	141					0	0	1	0	0	A	27224590	G	A	27224590	2	1	40	1	0	0	0	0	0	0	0	1	7331	1074	38	1		1	HOXA11	7	27224590	Silent	SNP	G	TCGA-DB-A64L-01A-11D-A29Q-08	19056887	27224590	131914073	36	1721											
MUC17	140453	broad.mit.edu	37	7	100677937	100677937	+	Silent	SNP	T	T	C			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr7:100677937T>C	ENST00000306151.4	+	3	3304	c.3240T>C	c.(3238-3240)agT>agC	p.S1080S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1080	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CTCAAGCCAGTTCATCTTCTA	0.512													7	1238					0	0	1	0	0	C	100677937	T	C	100677937	2	2	40	1	0	0	0	0	0	0	0	1	10022	1722	60	3		3	MUC17	7	100677937	Silent	SNP	T	TCGA-DB-A64L-01A-11D-A29Q-08	73453347	100677937	58460726	37	1722											
MUC17	140453	broad.mit.edu	37	7	100678887	100678887	+	Missense_Mutation	SNP	C	C	T	rs141608296		TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr7:100678887C>T	ENST00000306151.4	+	3	4254	c.4190C>T	c.(4189-4191)cCg>cTg	p.P1397L		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1397	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GGAACCACTCCGTTAACAAGT	0.507													48	495					0	0	1	0	0	T	100678887	C	T	100678887	3	4	40	1	0	0	0	0	1	0	0	0	10022	652	23	1	4200	1	MUC17	7	100678887	Missense_Mutation	SNP	C	TCGA-DB-A64L-01A-11D-A29Q-08	950	100678887	58459776	38	1723											
RINT1	60561	broad.mit.edu	37	7	105187664	105187664	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr7:105187664G>A	ENST00000257700.2	+	6	954	c.723G>A	c.(721-723)tgG>tgA	p.W241*		NM_021930.4	NP_068749.3	Q6NUQ1	RINT1_HUMAN	RAD50 interactor 1	241	RINT1/TIP20.				cell cycle|G2/M transition DNA damage checkpoint|protein transport|vesicle-mediated transport	endoplasmic reticulum membrane	protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						AGCTTCATTGGCCATTCATCG	0.433													5	151					0	0	1	0	0	A	105187664	G	A	105187664	4	1	40	1	0	0	0	0	0	1	0	0	13428	1212	42	2	745	2	RINT1	7	105187664	Nonsense_Mutation	SNP	G	TCGA-DB-A64L-01A-11D-A29Q-08	4508777	105187664	53950999	39	1724											
RP1	6101	broad.mit.edu	37	8	55533908	55533908	+	Missense_Mutation	SNP	C	C	G	rs147116231	byFrequency	TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr8:55533908C>G	ENST00000220676.1	+	2	530	c.382C>G	c.(382-384)Ctc>Gtc	p.L128V		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	128					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			GCGGCCCTGGCTCAGCAGCCG	0.697													6	184					0	0	1	0	0	G	55533908	C	G	55533908	3	3	40	1	0	0	0	0	1	0	0	0	13584	797	28	4	384	4	RP1	8	55533908	Missense_Mutation	SNP	C	TCGA-DB-A64L-01A-11D-A29Q-08		55533908	90830114	40	1725											
KCNB2	9312	broad.mit.edu	37	8	73480218	73480218	+	Silent	SNP	C	C	T			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr8:73480218C>T	ENST00000523207.1	+	2	837	c.249C>T	c.(247-249)aaC>aaT	p.N83N		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	83					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)			ATAATCTGAACGAGAACGAGT	0.517													33	66					0	0	1	0	0	T	73480218	C	T	73480218	2	4	40	1	0	0	0	0	0	0	0	1	8057	535	19	1		1	KCNB2	8	73480218	Silent	SNP	C	TCGA-DB-A64L-01A-11D-A29Q-08	17946310	73480218	72883804	41	1726											
FZD6	8323	broad.mit.edu	37	8	104337523	104337523	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr8:104337523C>T	ENST00000358755.4	+	4	1506	c.1189C>T	c.(1189-1191)Cga>Tga	p.R397*	FZD6_ENST00000522566.1_Nonsense_Mutation_p.R397*|FZD6_ENST00000523739.1_Nonsense_Mutation_p.R365*|FZD6_ENST00000540287.1_Nonsense_Mutation_p.R92*	NM_001164616.1|NM_003506.3	NP_001158088.1|NP_003497.2	O60353	FZD6_HUMAN	frizzled family receptor 6	397					angiogenesis|axonogenesis|cell proliferation in midbrain|establishment of planar polarity|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|inner ear morphogenesis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|neural tube closure|non-canonical Wnt receptor signaling pathway	apical part of cell|apicolateral plasma membrane|cytoplasm|integral to plasma membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	24			OV - Ovarian serous cystadenocarcinoma(57;2.86e-05)|STAD - Stomach adenocarcinoma(118;0.197)			AAATCATGTTCGACAAGTCAT	0.418													5	202					0	0	1	0	0	T	104337523	C	T	104337523	4	4	40	1	0	0	0	0	0	1	0	0	6169	876	31	1	1199	1	FZD6	8	104337523	Nonsense_Mutation	SNP	C	TCGA-DB-A64L-01A-11D-A29Q-08	30857305	104337523	42026499	42	1727											
GLIS3	169792	broad.mit.edu	37	9	3898784	3898784	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr9:3898784C>T	ENST00000324333.10	-	6	1763	c.1570G>A	c.(1570-1572)Gtg>Atg	p.V524M	GLIS3_ENST00000381971.3_Missense_Mutation_p.V679M|GLIS3_ENST00000461870.1_5'UTR|GLIS3-AS1_ENST00000451340.2_RNA	NM_152629.3	NP_689842.3	Q8NEA6	GLIS3_HUMAN	GLIS family zinc finger 3	524					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)		AGGGACTGCACGGTGAGGCAA	0.592													10	63					0	0	1	0	0	T	3898784	C	T	3898784	3	4	40	1	0	0	0	0	1	0	0	0	6489	536	19	1	777	1	GLIS3	9	3898784	Missense_Mutation	SNP	C	TCGA-DB-A64L-01A-11D-A29Q-08		3898784	137314647	43	1728											
TAF1L	138474	broad.mit.edu	37	9	32631823	32631823	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr9:32631823C>T	ENST00000242310.4	-	1	3844	c.3755G>A	c.(3754-3756)cGg>cAg	p.R1252Q		NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	1252					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		CCGCTTAAGCCGCCTCAGTTG	0.448													15	74					0	0	1	0	0	T	32631823	C	T	32631823	3	4	40	1	0	0	0	0	1	0	0	0	15580	652	23	1	1729	1	TAF1L	9	32631823	Missense_Mutation	SNP	C	TCGA-DB-A64L-01A-11D-A29Q-08	28733039	32631823	108581608	44	1729											
KIAA1045	23349	broad.mit.edu	37	9	34971620	34971620	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr9:34971620C>T	ENST00000242315.3	+	2	407	c.325C>T	c.(325-327)Cgg>Tgg	p.R109W	KIAA1045_ENST00000476115.2_Intron|KIAA1045_ENST00000544237.1_Missense_Mutation_p.R109W	NM_015297.1	NP_056112.1	Q9UPV7	K1045_HUMAN	KIAA1045	109							calcium ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			LUSC - Lung squamous cell carcinoma(32;0.00575)			CCGCCCCACCCGGAAGCTGGA	0.602													5	354					0	0	1	0	0	T	34971620	C	T	34971620	3	4	40	1	0	0	0	0	1	0	0	0	8249	643	23	1	327	1	KIAA1045	9	34971620	Missense_Mutation	SNP	C	TCGA-DB-A64L-01A-11D-A29Q-08	2339797	34971620	106241811	45	1730											
TMC1	117531	broad.mit.edu	37	9	75441910	75441910	+	Splice_Site	SNP	T	T	C			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr9:75441910T>C	ENST00000297784.5	+	21	2669	c.2129T>C	c.(2128-2130)gTt>gCt	p.V710A	TMC1_ENST00000340019.3_Splice_Site_p.V710A|TMC1_ENST00000396237.3_Splice_Site_p.V710A|TMC1_ENST00000486417.1_3'UTR	NM_138691.2	NP_619636.2	Q8TDI8	TMC1_HUMAN	transmembrane channel-like 1	710					sensory perception of sound	integral to membrane				NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(21)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	36						TTGGTGATGGTGTATGTGCTT	0.473													35	230					0	0	1	0	0	C	75441910	T	C	75441910	5	2	40	1	0	0	0	0	0	0	1	0	16044	1710	59	3	2195	3	TMC1	9	75441910	Splice_Site	SNP	T	TCGA-DB-A64L-01A-11D-A29Q-08	40470290	75441910	65771521	46	1731											
MRPL50	54534	broad.mit.edu	37	9	104160861	104160861	+	Missense_Mutation	SNP	G	G	C			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr9:104160861G>C	ENST00000374865.4	-	1	35	c.14C>G	c.(13-15)tCt>tGt	p.S5C	MRPL50_ENST00000539624.1_Missense_Mutation_p.S5C	NM_019051.2	NP_061924.1	Q8N5N7	RM50_HUMAN	mitochondrial ribosomal protein L50	5						mitochondrion|ribosome				large_intestine(1)|lung(2)|prostate(2)	5		Acute lymphoblastic leukemia(62;0.0559)				GCCCGACACAGATCGCGCCGC	0.547													14	97					0	0	1	0	0	C	104160861	G	C	104160861	3	2	40	1	0	0	0	0	1	0	0	0	9863	942	33	4	470	4	MRPL50	9	104160861	Missense_Mutation	SNP	G	TCGA-DB-A64L-01A-11D-A29Q-08	28718951	104160861	37052570	47	1732											
FUBP3	8939	broad.mit.edu	37	9	133470894	133470894	+	Missense_Mutation	SNP	C	C	A			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr9:133470894C>A	ENST00000319725.9	+	2	184	c.109C>A	c.(109-111)Cct>Act	p.P37T		NM_003934.1	NP_003925.1	Q96I24	FUBP3_HUMAN	far upstream element (FUSE) binding protein 3	37					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|RNA binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(10)|ovary(2)|urinary_tract(2)	21				OV - Ovarian serous cystadenocarcinoma(145;0.000279)		TGATTCAATTCCTCACTTGAA	0.413													7	75					0.00198382	0.00207399	1	1	0	A	133470894	C	A	133470894	3	1	40	1	0	0	0	0	1	0	0	0	6128	855	30	5	115	5	FUBP3	9	133470894	Missense_Mutation	SNP	C	TCGA-DB-A64L-01A-11D-A29Q-08	29310033	133470894	7742537	48	1733											
NOTCH1	4851	broad.mit.edu	37	9	139404348	139404348	+	Missense_Mutation	SNP	C	C	A			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr9:139404348C>A	ENST00000277541.6	-	18	2881	c.2806G>T	c.(2806-2808)Ggc>Tgc	p.G936C		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	936	EGF-like 24.				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CCCCGGAAGCCGGGCAGGCAG	0.647			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			70	93					5.96624e-29	6.63985e-29	1	1	0	A	139404348	C	A	139404348	3	1	40	1	0	0	0	0	1	0	0	0	10594	652	23	5	4929	5	NOTCH1	9	139404348	Missense_Mutation	SNP	C	TCGA-DB-A64L-01A-11D-A29Q-08	5933454	139404348	1809083	49	1734											
KIF20B	9585	broad.mit.edu	37	10	91503566	91503566	+	Splice_Site	SNP	T	T	C			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr10:91503566T>C	ENST00000416354.1	+	22	4079	c.4007T>C	c.(4006-4008)gTa>gCa	p.V1336A	KIF20B_ENST00000260753.4_Splice_Site_p.V1266A|KIF20B_ENST00000371728.3_Splice_Site_p.V1306A|KIF20B_ENST00000394289.2_Splice_Site_p.V1306A|KIF20B_ENST00000478929.1_3'UTR			Q96Q89	KI20B_HUMAN	kinesin family member 20B	1306					cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis	centrosome|microtubule|nucleolus|nucleoplasm|spindle	ATP binding|ATPase activity|microtubule motor activity|WW domain binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						ATTTTGTAGGTATCTGTAATG	0.284													3	38					0	0	1	0	0	C	91503566	T	C	91503566	5	2	40	1	0	0	0	0	0	0	1	0	8329	1652	57	3	3879	3	KIF20B	10	91503566	Splice_Site	SNP	T	TCGA-DB-A64L-01A-11D-A29Q-08		91503566	44031181	50	1735											
ABLIM1	3983	broad.mit.edu	37	10	116199848	116199848	+	Splice_Site	SNP	T	T	C			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr10:116199848T>C	ENST00000369252.4	-	20	2181	c.1880A>G	c.(1879-1881)gAt>gGt	p.D627G	ABLIM1_ENST00000369253.2_Splice_Site_p.D310G|ABLIM1_ENST00000369266.3_Intron|ABLIM1_ENST00000392952.3_Splice_Site_p.D364G|ABLIM1_ENST00000277895.5_Splice_Site_p.D687G|ABLIM1_ENST00000533213.2_Intron	NM_001003407.1|NM_001003408.1	NP_001003407.1|NP_001003408.1	O14639	ABLM1_HUMAN	actin binding LIM protein 1	687					axon guidance|cytoskeleton organization|organ morphogenesis|visual perception	actin cytoskeleton|cytoplasm	actin binding|zinc ion binding			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	30		Colorectal(252;0.0373)|Breast(234;0.231)		Epithelial(162;0.0132)|all cancers(201;0.0383)		TACCTGGTAATCTGAAAAGGA	0.403													9	13					0	0	1	0	0	C	116199848	T	C	116199848	5	2	40	1	0	0	0	0	0	0	1	0	94	1450	50	3		3	ABLIM1	10	116199848	Splice_Site	SNP	T	TCGA-DB-A64L-01A-11D-A29Q-08	24696282	116199848	19334899	51	1736											
NELL1	4745	broad.mit.edu	37	11	20907004	20907004	+	Missense_Mutation	SNP	T	T	C			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr11:20907004T>C	ENST00000298925.5	+	6	758	c.605T>C	c.(604-606)gTg>gCg	p.V202A	NELL1_ENST00000325319.5_Missense_Mutation_p.V117A|NELL1_ENST00000357134.5_Missense_Mutation_p.V174A|NELL1_ENST00000532434.1_Missense_Mutation_p.V174A			Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	174	TSP N-terminal.				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity			NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						TATGAGCGTGTGATAGACCCT	0.433													20	32					0	0	1	0	0	C	20907004	T	C	20907004	3	2	40	1	0	0	0	0	1	0	0	0	10380	1696	59	3	539	3	NELL1	11	20907004	Missense_Mutation	SNP	T	TCGA-DB-A64L-01A-11D-A29Q-08		20907004	114099512	52	1737											
CD44	960	broad.mit.edu	37	11	35198139	35198139	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr11:35198139C>T	ENST00000263398.6	+	2	519	c.85C>T	c.(85-87)Cgc>Tgc	p.R29C	CD44_ENST00000526025.1_Missense_Mutation_p.R29C|CD44_ENST00000434472.2_Missense_Mutation_p.R29C|CD44_ENST00000428726.2_Missense_Mutation_p.R29C|CD44_ENST00000433354.2_Missense_Mutation_p.R29C|CD44_ENST00000526669.2_Missense_Mutation_p.R29C|CD44_ENST00000437706.2_Missense_Mutation_p.R29C|CD44_ENST00000433892.2_Missense_Mutation_p.R29C|CD44_ENST00000278386.6_Missense_Mutation_p.R29C|CD44_ENST00000449691.2_Missense_Mutation_p.R29C|CD44_ENST00000360158.4_Missense_Mutation_p.R29C|CD44_ENST00000415148.2_Missense_Mutation_p.R29C|CD44_ENST00000352818.4_Missense_Mutation_p.R29C	NM_001001391.1|NM_001202555.1|NM_001202556.1	NP_001001391.1|NP_001189484.1|NP_001189485.1	P16070	CD44_HUMAN	CD44 molecule (Indian blood group)	29					cell-cell adhesion|cell-matrix adhesion|interferon-gamma-mediated signaling pathway|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation	cell surface|Golgi apparatus|integral to plasma membrane	collagen binding|hyaluronic acid binding|receptor activity			cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|skin(1)	23	all_cancers(35;0.212)|all_lung(20;0.0874)|all_epithelial(35;0.112)	all_hematologic(20;0.107)	STAD - Stomach adenocarcinoma(6;0.00731)		Hyaluronidase(DB00070)	TATAACCTGCCGCTTTGCAGG	0.433													19	29					0	0	1	0	0	T	35198139	C	T	35198139	3	4	40	1	0	0	0	0	1	0	0	0	3039	652	23	1	91	1	CD44	11	35198139	Missense_Mutation	SNP	C	TCGA-DB-A64L-01A-11D-A29Q-08	14291135	35198139	99808377	53	1738											
RTN3	10313	broad.mit.edu	37	11	63487943	63487943	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr11:63487943G>A	ENST00000377819.5	+	3	2123	c.1969G>A	c.(1969-1971)Gcc>Acc	p.A657T	RTN3_ENST00000540798.1_Missense_Mutation_p.A545T|RTN3_ENST00000354497.4_Intron|RTN3_ENST00000339997.4_Missense_Mutation_p.A638T|RTN3_ENST00000537981.1_Intron|RTN3_ENST00000356000.3_Intron|RTN3_ENST00000341307.2_Intron	NM_001265589.1	NP_001252518.1	O95197	RTN3_HUMAN	reticulon 3	657					apoptosis|endoplasmic reticulum tubular network organization|interspecies interaction between organisms|response to stress|vesicle-mediated transport	endoplasmic reticulum membrane|extracellular space|Golgi membrane|integral to membrane				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	20						CCTGATAGCAGCCTTTACAGA	0.358													5	76					0	0	1	0	0	A	63487943	G	A	63487943	3	1	40	1	0	0	0	0	1	0	0	0	13779	971	34	2	1979	2	RTN3	11	63487943	Missense_Mutation	SNP	G	TCGA-DB-A64L-01A-11D-A29Q-08	28289804	63487943	71518573	54	1739											
FERMT3	83706	broad.mit.edu	37	11	63987951	63987951	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr11:63987951C>T	ENST00000279227.5	+	12	1462	c.1367C>T	c.(1366-1368)tCc>tTc	p.S456F	FERMT3_ENST00000345728.5_Missense_Mutation_p.S452F	NM_178443.2	NP_848537.1	Q86UX7	URP2_HUMAN	fermitin family member 3	456	FERM.|PH.				integrin activation|leukocyte cell-cell adhesion|platelet aggregation|regulation of cell-cell adhesion mediated by integrin	cell junction|cell projection|podosome	integrin binding			breast(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	18						CGCCTGGCCTCCAAAGGCCGC	0.682													8	27					0	0	1	0	0	T	63987951	C	T	63987951	3	4	40	1	0	0	0	0	1	0	0	0	5852	855	30	2	1409	2	FERMT3	11	63987951	Missense_Mutation	SNP	C	TCGA-DB-A64L-01A-11D-A29Q-08	500008	63987951	71018565	55	1740											
PITPNM1	9600	broad.mit.edu	37	11	67266176	67266176	+	Missense_Mutation	SNP	C	C	T	rs151117956	by1000genomes	TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr11:67266176C>T	ENST00000356404.3	-	10	1600	c.1375G>A	c.(1375-1377)Gcc>Acc	p.A459T	PITPNM1_ENST00000436757.2_Missense_Mutation_p.A459T|PITPNM1_ENST00000534749.1_Missense_Mutation_p.A459T	NM_001130848.1|NM_004910.2	NP_001124320.1|NP_004901.2	O00562	PITM1_HUMAN	phosphatidylinositol transfer protein, membrane-associated 1	459					brain development|lipid metabolic process|phototransduction|protein transport	cleavage furrow|endoplasmic reticulum membrane|Golgi cisterna membrane|lipid particle|membrane fraction|midbody	metal ion binding|phosphatidylinositol transporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3)	18						GCCTCGAAGGCGGAGCTCAGC	0.662													56	92					0	0	1	0	0	T	67266176	C	T	67266176	3	4	40	1	0	0	0	0	1	0	0	0	11998	768	27	1	2419	1	PITPNM1	11	67266176	Missense_Mutation	SNP	C	TCGA-DB-A64L-01A-11D-A29Q-08	3278225	67266176	67740340	56	1741											
INTS4	92105	broad.mit.edu	37	11	77672047	77672047	+	Silent	SNP	G	G	A			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr11:77672047G>A	ENST00000534064.1	-	5	643	c.609C>T	c.(607-609)taC>taT	p.Y203Y	INTS4_ENST00000529807.1_Silent_p.Y203Y	NM_033547.3	NP_291025.3	Q96HW7	INT4_HUMAN	integrator complex subunit 4	203					snRNA processing	integrator complex	protein binding		INTS4/GAB2(2)	NS(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(5)|upper_aerodigestive_tract(1)	32	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		Epithelial(5;1.13e-46)|all cancers(3;8.92e-44)|BRCA - Breast invasive adenocarcinoma(5;8.4e-26)|OV - Ovarian serous cystadenocarcinoma(8;1.05e-23)			GGTCACTGAAGTAATCCCCTA	0.428													64	128					0	0	1	0	0	A	77672047	G	A	77672047	2	1	40	1	0	0	0	0	0	0	0	1	7824	1024	36	2		2	INTS4	11	77672047	Silent	SNP	G	TCGA-DB-A64L-01A-11D-A29Q-08	10405871	77672047	57334469	57	1742											
ROBO3	64221	broad.mit.edu	37	11	124740574	124740574	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr11:124740574C>T	ENST00000397801.1	+	6	1175	c.983C>T	c.(982-984)gCg>gTg	p.A328V	ROBO3_ENST00000538940.1_Missense_Mutation_p.A306V	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3 (Drosophila)	328	Ig-like C2-type 3.				axon midline choice point recognition	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)		ACCTGTGTGGCGGAGAACAGT	0.602													3	35					0	0	1	0	0	T	124740574	C	T	124740574	3	4	40	1	0	0	0	0	1	0	0	0	13567	768	27	1	1005	1	ROBO3	11	124740574	Missense_Mutation	SNP	C	TCGA-DB-A64L-01A-11D-A29Q-08	47068527	124740574	10265942	58	1743											
CHD4	1108	broad.mit.edu	37	12	6701875	6701875	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr12:6701875G>A	ENST00000309577.6	-	18	2924	c.2761C>T	c.(2761-2763)Ccc>Tcc	p.P921S	CHD4_ENST00000544040.1_Missense_Mutation_p.P914S|CHD4_ENST00000544484.1_Missense_Mutation_p.P918S|CHD4_ENST00000357008.2_Missense_Mutation_p.P921S			Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	921	Helicase ATP-binding.				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2						AACCTCTCGGGGGTGAGAAAG	0.433													9	84					0	0	1	0	0	A	6701875	G	A	6701875	3	1	40	1	0	0	0	0	1	0	0	0	3349	1232	43	2	3069	2	CHD4	12	6701875	Missense_Mutation	SNP	G	TCGA-DB-A64L-01A-11D-A29Q-08		6701875	127150020	59	1744											
NAV3	89795	broad.mit.edu	37	12	78513090	78513090	+	Silent	SNP	T	T	G			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr12:78513090T>G	ENST00000397909.2	+	15	3287	c.3114T>G	c.(3112-3114)ccT>ccG	p.P1038P	NAV3_ENST00000536525.2_Silent_p.P1038P|NAV3_ENST00000266692.7_Silent_p.P1038P|NAV3_ENST00000228327.6_Silent_p.P1038P			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1038	Ser-rich.					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						AAAGATCTCCTTCAGATGCAG	0.438										HNSCC(70;0.22)			4	164					0	0	1	0	0	G	78513090	T	G	78513090	2	3	40	1	0	0	0	0	0	0	0	1	10233	1596	56	5		5	NAV3	12	78513090	Silent	SNP	T	TCGA-DB-A64L-01A-11D-A29Q-08	71811215	78513090	55338805	60	1745											
GCN1L1	10985	broad.mit.edu	37	12	120594273	120594273	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr12:120594273C>T	ENST00000300648.6	-	28	3316	c.3304G>A	c.(3304-3306)Gtg>Atg	p.V1102M		NM_006836.1	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	1102					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					ACCCGGAGCACGGTTTCCCGC	0.577													13	60					0	0	1	0	0	T	120594273	C	T	120594273	3	4	40	1	0	0	0	0	1	0	0	0	6339	536	19	1	4835	1	GCN1L1	12	120594273	Missense_Mutation	SNP	C	TCGA-DB-A64L-01A-11D-A29Q-08	42081183	120594273	13257622	61	1746											
B3GNT4	79369	broad.mit.edu	37	12	122691360	122691360	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr12:122691360G>A	ENST00000535274.1	+	1	2214	c.487G>A	c.(487-489)Gag>Aag	p.E163K	B3GNT4_ENST00000545141.1_Intron|B3GNT4_ENST00000324189.4_Missense_Mutation_p.E188K|B3GNT4_ENST00000546192.1_Missense_Mutation_p.E163K			Q9C0J1	B3GN4_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 4	188					protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	13	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000297)|Epithelial(86;0.000497)|BRCA - Breast invasive adenocarcinoma(302;0.222)		GGACTTCACTGAGGACTTCTT	0.597													31	58					0	0	1	0	0	A	122691360	G	A	122691360	3	1	40	1	0	0	0	0	1	0	0	0	1257	1291	45	2	568	2	B3GNT4	12	122691360	Missense_Mutation	SNP	G	TCGA-DB-A64L-01A-11D-A29Q-08	2097087	122691360	11160535	62	1747											
NCOR2	9612	broad.mit.edu	37	12	124824906	124824906	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr12:124824906G>A	ENST00000356219.3	-	37	5598	c.5443C>T	c.(5443-5445)Cgg>Tgg	p.R1815W	NCOR2_ENST00000404121.2_Missense_Mutation_p.R1369W|NCOR2_ENST00000397355.1_Missense_Mutation_p.R1799W|NCOR2_ENST00000404621.1_Missense_Mutation_p.R1798W|NCOR2_ENST00000405201.1_Missense_Mutation_p.R1808W|NCOR2_ENST00000429285.2_Missense_Mutation_p.R1798W	NM_006312.5	NP_006303.4	Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	1816					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		TCCCGCTCCCGATCCCGGTCC	0.647													25	43					0	0	1	0	0	A	124824906	G	A	124824906	3	1	40	1	0	0	0	0	1	0	0	0	10283	1057	37	1	2170	1	NCOR2	12	124824906	Missense_Mutation	SNP	G	TCGA-DB-A64L-01A-11D-A29Q-08	2133546	124824906	9026989	63	1748											
GJB6	10804	broad.mit.edu	37	13	20797370	20797370	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr13:20797370C>T	ENST00000356192.6	-	5	870	c.250G>A	c.(250-252)Gtc>Atc	p.V84I	GJB6_ENST00000400066.3_Missense_Mutation_p.V84I|GJB6_ENST00000241124.6_Missense_Mutation_p.V84I|GJB6_ENST00000400065.3_Missense_Mutation_p.V84I	NM_001110219.2	NP_001103689.1	O95452	CXB6_HUMAN	gap junction protein, beta 6, 30kDa	84					cell communication|sensory perception of sound	connexon complex|integral to membrane|intracellular membrane-bounded organelle				biliary_tract(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)	9		all_cancers(29;2.04e-22)|all_epithelial(30;1.19e-19)|all_lung(29;2.27e-18)|Lung SC(185;0.0257)|Ovarian(182;0.0822)		all cancers(112;2.17e-05)|Epithelial(112;0.00075)|OV - Ovarian serous cystadenocarcinoma(117;0.00978)|Lung(94;0.0238)|GBM - Glioblastoma multiforme(144;0.0323)|LUSC - Lung squamous cell carcinoma(192;0.0744)		GGGGTGGAGACGAAGATCAGC	0.552													8	43					0	0	1	0	0	T	20797370	C	T	20797370	3	4	40	1	0	0	0	0	1	0	0	0	6454	536	19	1	539	1	GJB6	13	20797370	Missense_Mutation	SNP	C	TCGA-DB-A64L-01A-11D-A29Q-08		20797370	94372508	64	1749											
CCNB1IP1	57820	broad.mit.edu	37	14	20779890	20779890	+	Missense_Mutation	SNP	A	A	G			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr14:20779890A>G	ENST00000398169.3	-	7	1269	c.653T>C	c.(652-654)tTg>tCg	p.L218S	CCNB1IP1_ENST00000353689.4_Missense_Mutation_p.L218S|CCNB1IP1_ENST00000437553.2_Missense_Mutation_p.L218S|CCNB1IP1_ENST00000398163.2_Missense_Mutation_p.L218S|CCNB1IP1_ENST00000358932.4_Missense_Mutation_p.L218S|CCNB1IP1_ENST00000398160.2_Missense_Mutation_p.L218S			Q9NPC3	CIP1_HUMAN	cyclin B1 interacting protein 1, E3 ubiquitin protein ligase	218						chromosome|nucleus	ligase activity|metal ion binding|protein binding		HMGA2/CCNB1IP1(2)	breast(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	9	all_cancers(95;0.00092)	all_lung(585;0.235)	Epithelial(56;8.86e-07)|all cancers(55;4.98e-06)	GBM - Glioblastoma multiforme(265;0.0164)		TGTATTATCCAAAGGAAACTT	0.388			T	HMGA2	leiomyoma								37	42					0	0	1	0	0	G	20779890	A	G	20779890	3	3	40	1	0	0	0	0	1	0	0	0	2934	131	5	3	184	3	CCNB1IP1	14	20779890	Missense_Mutation	SNP	A	TCGA-DB-A64L-01A-11D-A29Q-08		20779890	86569650	65	1750											
RNASE8	122665	broad.mit.edu	37	14	21526423	21526423	+	Missense_Mutation	SNP	C	C	G			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr14:21526423C>G	ENST00000308227.2	+	1	443	c.372C>G	c.(370-372)caC>caG	p.H124Q	NDRG2_ENST00000403829.3_Intron	NM_138331.1	NP_612204.1	Q8TDE3	RNAS8_HUMAN	ribonuclease, RNase A family, 8	124						extracellular region	nucleic acid binding|pancreatic ribonuclease activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4	all_cancers(95;0.000759)		OV - Ovarian serous cystadenocarcinoma(11;3.42e-11)|Epithelial(56;5.57e-09)|all cancers(55;2.36e-08)	GBM - Glioblastoma multiforme(265;0.0188)		AAGAGAAGCACCTGAACACAC	0.537													26	166					0	0	1	0	0	G	21526423	C	G	21526423	3	3	40	1	0	0	0	0	1	0	0	0	13461	506	18	5	374	5	RNASE8	14	21526423	Missense_Mutation	SNP	C	TCGA-DB-A64L-01A-11D-A29Q-08	746533	21526423	85823117	66	1751											
METTL3	56339	broad.mit.edu	37	14	21971990	21971990	+	Silent	SNP	G	G	A			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr14:21971990G>A	ENST00000298717.4	-	2	286	c.135C>T	c.(133-135)acC>acT	p.T45T	METTL3_ENST00000538267.1_Silent_p.T45T	NM_019852.3	NP_062826.2	Q86U44	MTA70_HUMAN	methyltransferase like 3	45					gene expression	nuclear speck	mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity|RNA binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(95;0.000628)		Epithelial(56;6.61e-06)	GBM - Glioblastoma multiforme(265;0.0146)		CACTACGGAAGGTTGGAGACA	0.473													12	101					0	0	1	0	0	A	21971990	G	A	21971990	2	1	40	1	0	0	0	0	0	0	0	1	9551	987	35	2		2	METTL3	14	21971990	Silent	SNP	G	TCGA-DB-A64L-01A-11D-A29Q-08	445567	21971990	85377550	67	1752											
ADCY4	196883	broad.mit.edu	37	14	24791275	24791275	+	Silent	SNP	G	G	A	rs79119787		TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr14:24791275G>A	ENST00000310677.4	-	21	2696	c.2583C>T	c.(2581-2583)aaC>aaT	p.N861N	ADCY4_ENST00000418030.2_Silent_p.N861N|ADCY4_ENST00000554068.2_Silent_p.N861N	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	861					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding|protein binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(265;0.0192)		GAGTCACCTCGTTGCGCCGGT	0.587													6	164					0	0	1	0	0	A	24791275	G	A	24791275	2	1	40	1	0	0	0	0	0	0	0	1	295	1136	40	1		1	ADCY4	14	24791275	Silent	SNP	G	TCGA-DB-A64L-01A-11D-A29Q-08	2819285	24791275	82558265	68	1753											
TRMT5	57570	broad.mit.edu	37	14	61446302	61446302	+	Missense_Mutation	SNP	A	A	C			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr14:61446302A>C	ENST00000261249.6	-	2	698	c.314T>G	c.(313-315)aTa>aGa	p.I105R	RP11-193F5.1_ENST00000553946.1_RNA	NM_020810.2	NP_065861.2	Q32P41	TRMT5_HUMAN	tRNA methyltransferase 5	105						cytoplasm	tRNA (guanine-N1-)-methyltransferase activity			NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(1)	11				OV - Ovarian serous cystadenocarcinoma(108;0.0873)		TTTACTGACTATTTCTTTCCT	0.408													19	136					0	0	1	0	0	C	61446302	A	C	61446302	3	2	40	1	0	0	0	0	1	0	0	0	16628	449	16	4	1231	4	TRMT5	14	61446302	Missense_Mutation	SNP	A	TCGA-DB-A64L-01A-11D-A29Q-08	36655027	61446302	45903238	69	1754											
TRPM1	4308	broad.mit.edu	37	15	31318363	31318363	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr15:31318363C>T	ENST00000542188.1	-	26	3972	c.3659G>A	c.(3658-3660)cGc>cAc	p.R1220H	TRPM1_ENST00000397795.2_Missense_Mutation_p.R1181H|TRPM1_ENST00000256552.6_Missense_Mutation_p.R1203H|RP11-348B17.1_ENST00000561299.1_RNA	NM_001252020.1	NP_001238949.1	Q7Z4N2	TRPM1_HUMAN	transient receptor potential cation channel, subfamily M, member 1	1181					cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		GACCCGGATGCGCTCGTCGCT	0.632													7	61					0	0	1	0	0	T	31318363	C	T	31318363	3	4	40	1	0	0	0	0	1	0	0	0	16646	768	27	1	1277	1	TRPM1	15	31318363	Missense_Mutation	SNP	C	TCGA-DB-A64L-01A-11D-A29Q-08		31318363	71213029	70	1755											
CHAC1	79094	broad.mit.edu	37	15	41247728	41247728	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr15:41247728C>T	ENST00000446533.3	+	3	860	c.551C>T	c.(550-552)gCc>gTc	p.A184V	CHAC1_ENST00000444189.2_Intron|CHAC1_ENST00000487220.1_5'UTR	NM_001142776.1|NM_024111.3	NP_001136248.1|NP_077016.2	Q9BUX1	CHAC1_HUMAN	ChaC, cation transport regulator homolog 1 (E. coli)	184					apoptosis in response to endoplasmic reticulum stress|response to unfolded protein	cytosol	protein binding			endometrium(1)|large_intestine(1)|skin(1)	3		all_cancers(109;1.42e-13)|all_epithelial(112;1.48e-11)|Lung NSC(122;5.77e-09)|all_lung(180;1.08e-07)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;2.66e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.163)		AAGGCATTGGCCTATGTGGCC	0.597													22	246					0	0	1	0	0	T	41247728	C	T	41247728	3	4	40	1	0	0	0	0	1	0	0	0	3330	739	26	2	561	2	CHAC1	15	41247728	Missense_Mutation	SNP	C	TCGA-DB-A64L-01A-11D-A29Q-08	9929365	41247728	61283664	71	1756											
SEMA6D	80031	broad.mit.edu	37	15	48063381	48063381	+	Missense_Mutation	SNP	A	A	G			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr15:48063381A>G	ENST00000316364.5	+	19	3060	c.2621A>G	c.(2620-2622)gAt>gGt	p.D874G	SEMA6D_ENST00000389428.3_Missense_Mutation_p.D799G|SEMA6D_ENST00000355997.3_3'UTR|SEMA6D_ENST00000558816.1_3'UTR|SEMA6D_ENST00000537942.1_Missense_Mutation_p.D812G|SEMA6D_ENST00000536845.2_Missense_Mutation_p.D874G|SEMA6D_ENST00000389433.2_Missense_Mutation_p.D855G|SEMA6D_ENST00000558014.1_Missense_Mutation_p.D812G|SEMA6D_ENST00000358066.4_Missense_Mutation_p.D812G|SEMA6D_ENST00000389432.2_Missense_Mutation_p.D831G|SEMA6D_ENST00000354744.4_Missense_Mutation_p.D818G	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	874					axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity			biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		CGTTCTGTTGATTCCAGAAAT	0.438													9	122					0	0	1	0	0	G	48063381	A	G	48063381	3	3	40	1	0	0	0	0	1	0	0	0	14096	333	12	3	2734	3	SEMA6D	15	48063381	Missense_Mutation	SNP	A	TCGA-DB-A64L-01A-11D-A29Q-08	6815653	48063381	54468011	72	1757											
CA12	771	broad.mit.edu	37	15	63637713	63637713	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr15:63637713G>A	ENST00000178638.3	-	4	832	c.392C>T	c.(391-393)tCt>tTt	p.S131F	CA12_ENST00000344366.3_Missense_Mutation_p.S131F|CA12_ENST00000422263.2_Missense_Mutation_p.S71F	NM_001218.3	NP_001209.1	O43570	CAH12_HUMAN	carbonic anhydrase XII	131					one-carbon metabolic process	integral to membrane	carbonate dehydratase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	16					Acetazolamide(DB00819)	GGTGTGCTCAGAGCCGTGCGG	0.647													19	42					0	0	1	0	0	A	63637713	G	A	63637713	3	1	40	1	0	0	0	0	1	0	0	0	2531	942	33	2	704	2	CA12	15	63637713	Missense_Mutation	SNP	G	TCGA-DB-A64L-01A-11D-A29Q-08	15574332	63637713	38893679	73	1758											
CYP11A1	1583	broad.mit.edu	37	15	74630950	74630950	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr15:74630950G>A	ENST00000358632.4	-	8	1617	c.922C>T	c.(922-924)Cgg>Tgg	p.R308W	CYP11A1_ENST00000268053.6_Missense_Mutation_p.R466W|CYP11A1_ENST00000419019.2_Missense_Mutation_p.R308W	NM_001099773.1	NP_001093243.1	P05108	CP11A_HUMAN	cytochrome P450, family 11, subfamily A, polypeptide 1	466					C21-steroid hormone biosynthetic process|cholesterol metabolic process|vitamin D metabolic process|xenobiotic metabolic process	mitochondrial matrix	cholesterol monooxygenase (side-chain-cleaving) activity|electron carrier activity|heme binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20					Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Clotrimazole(DB00257)|Digitoxin(DB01396)|Digoxin(DB00390)|Medroxyprogesterone(DB00603)|Ouabain(DB01092)|Progesterone(DB00396)|Testosterone(DB00624)|Trilostane(DB01108)	TCAGCGATCCGCCGTCCCAGA	0.557													4	156					0	0	1	0	0	A	74630950	G	A	74630950	3	1	40	1	0	0	0	0	1	0	0	0	4167	1086	38	1	177	1	CYP11A1	15	74630950	Missense_Mutation	SNP	G	TCGA-DB-A64L-01A-11D-A29Q-08	10993237	74630950	27900442	74	1759											
LRRK1	79705	broad.mit.edu	37	15	101598285	101598285	+	Missense_Mutation	SNP	T	T	A			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr15:101598285T>A	ENST00000284395.5	+	30	5009	c.4609T>A	c.(4609-4611)Ttc>Atc	p.F1537I	LRRK1_ENST00000388948.3_Missense_Mutation_p.F1540I|RP11-505E24.2_ENST00000559857.1_RNA			Q38SD2	LRRK1_HUMAN	leucine-rich repeat kinase 1	1540					small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			GCAGACAGCCTTCTTCTCATC	0.577													4	87					0	0	1	0	0	A	101598285	T	A	101598285	3	1	40	1	0	0	0	0	1	0	0	0	9077	1609	56	5	4728	5	LRRK1	15	101598285	Missense_Mutation	SNP	T	TCGA-DB-A64L-01A-11D-A29Q-08	26967335	101598285	933107	75	1760											
ZNF263	10127	broad.mit.edu	37	16	3339765	3339765	+	Missense_Mutation	SNP	G	G	A	rs149007034		TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr16:3339765G>A	ENST00000219069.5	+	6	2135	c.1259G>A	c.(1258-1260)cGt>cAt	p.R420H	ZNF263_ENST00000538765.1_Missense_Mutation_p.R68H|ZNF263_ENST00000574253.1_3'UTR	NM_005741.4	NP_005732.2	O14978	ZN263_HUMAN	zinc finger protein 263	420					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|skin(4)|urinary_tract(3)	20						GGGAACCCACGTTTCCTGTCA	0.493													53	93					0	0	1	0	0	A	3339765	G	A	3339765	3	1	40	1	0	0	0	0	1	0	0	0	17861	1145	40	1	1281	1	ZNF263	16	3339765	Missense_Mutation	SNP	G	TCGA-DB-A64L-01A-11D-A29Q-08		3339765	87014988	76	1761											
FBRS	64319	broad.mit.edu	37	16	30680745	30680745	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr16:30680745G>A	ENST00000356166.6	+	18	3810	c.2722G>A	c.(2722-2724)Ggg>Agg	p.G908R	FBRS_ENST00000287468.5_Missense_Mutation_p.G388R|FBRS_ENST00000568722.1_Missense_Mutation_p.G300R|FBRS_ENST00000395073.2_Missense_Mutation_p.G300R			Q9HAH7	FBRS_HUMAN	fibrosin	388										ovary(1)	1			Colorectal(24;0.103)			AACTGGACCCGGGGCCGTGGC	0.687													78	98					0	0	1	0	0	A	30680745	G	A	30680745	3	1	40	1	0	0	0	0	1	0	0	0	5740	1116	39	1	1204	1	FBRS	16	30680745	Missense_Mutation	SNP	G	TCGA-DB-A64L-01A-11D-A29Q-08	27340980	30680745	59674008	77	1762											
CES2	8824	broad.mit.edu	37	16	66974478	66974478	+	Silent	SNP	G	G	A			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr16:66974478G>A	ENST00000317091.4	+	5	1872	c.888G>A	c.(886-888)acG>acA	p.T296T	CES2_ENST00000417689.1_Silent_p.T296T	NM_003869.5	NP_003860.2	O00748	EST2_HUMAN	carboxylesterase 2	232					catabolic process	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity			breast(1)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|urinary_tract(1)	12		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0663)|Epithelial(162;0.166)		CGGGTGGCACGAGTGTGTCTT	0.597													54	78					0	0	1	0	0	A	66974478	G	A	66974478	2	1	40	1	0	0	0	0	0	0	0	1	3292	1045	37	1		1	CES2	16	66974478	Silent	SNP	G	TCGA-DB-A64L-01A-11D-A29Q-08	36293733	66974478	23380275	78	1763											
KCTD19	146212	broad.mit.edu	37	16	67327780	67327781	+	Frame_Shift_Ins	INS	-	-	G			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr16:67327780_67327781insG	ENST00000304372.5	-	12	1939_1940	c.1884_1885insC	c.(1882-1887)cccgccfs	p.A629fs		NM_001100915.1	NP_001094385.1	Q17RG1	KCD19_HUMAN	potassium channel tetramerization domain containing 19	629						voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)		ATGGGAGTGGCGGGAGGGTCTT	0.54													7	334	---	---	---	---						G	67327781	-	G	67327780	7	5	40	1	0	1	1	0	0	0	0	0	8150	768	27	0	915	0	KCTD19	16	67327780	Frame_Shift_Ins	INS	-	TCGA-DB-A64L-01A-11D-A29Q-08	353302	67327780	23026973	79	1764											
IRF8	3394	broad.mit.edu	37	16	85952327	85952327	+	Silent	SNP	C	C	T			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr16:85952327C>T	ENST00000268638.5	+	7	1328	c.906C>T	c.(904-906)aaC>aaT	p.N302N	IRF8_ENST00000562492.1_Silent_p.N98N	NM_002163.2	NP_002154.1	Q02556	IRF8_HUMAN	interferon regulatory factor 8	302					interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	nucleus	DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	24		Prostate(104;0.0771)				GCAGCGGCAACGCCGTGGTGT	0.657													8	45					0	0	1	0	0	T	85952327	C	T	85952327	2	4	40	1	0	0	0	0	0	0	0	1	7880	535	19	1		1	IRF8	16	85952327	Silent	SNP	C	TCGA-DB-A64L-01A-11D-A29Q-08	18624547	85952327	4402426	80	1765											
PRPF8	10594	broad.mit.edu	37	17	1578465	1578465	+	Missense_Mutation	SNP	T	T	C			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr17:1578465T>C	ENST00000572621.1	-	19	3306	c.3041A>G	c.(3040-3042)aAc>aGc	p.N1014S	PRPF8_ENST00000304992.6_Missense_Mutation_p.N1014S			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	1014						catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		GATGACGACGTTGTTCTTGGC	0.507													17	39					0	0	1	0	0	C	1578465	T	C	1578465	3	2	40	1	0	0	0	0	1	0	0	0	12627	1725	60	3	4062	3	PRPF8	17	1578465	Missense_Mutation	SNP	T	TCGA-DB-A64L-01A-11D-A29Q-08		1578465	79616745	81	1766											
RPA1	6117	broad.mit.edu	37	17	1798390	1798390	+	Splice_Site	SNP	G	G	A			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr17:1798390G>A	ENST00000254719.5	+	16	1856		c.e16+1			NM_002945.3	NP_002936.1	P27694	RFA1_HUMAN	replication protein A1, 70kDa						cell cycle checkpoint|DNA recombinase assembly|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	actin cytoskeleton|cytoplasm|DNA replication factor A complex|PML body	metal ion binding|protein binding|single-stranded DNA binding			breast(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(2)	10						GACCTACAACGTAAGTAAGGG	0.493								Nucleotide excision repair (NER)					40	64					0	0	1	0	0	A	1798390	G	A	1798390	5	1	40	1	0	0	0	0	0	0	1	0	13588	1159	40	1	1809	1	RPA1	17	1798390	Splice_Site	SNP	G	TCGA-DB-A64L-01A-11D-A29Q-08	219925	1798390	79396820	82	1767											
NLRP1	22861	broad.mit.edu	37	17	5437298	5437298	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr17:5437298C>T	ENST00000345221.3	-	9	3525	c.2971G>A	c.(2971-2973)Gtg>Atg	p.V991M	NLRP1_ENST00000571307.1_5'UTR|NLRP1_ENST00000354411.3_Missense_Mutation_p.V961M|NLRP1_ENST00000269280.4_Missense_Mutation_p.V991M|NLRP1_ENST00000577119.1_Missense_Mutation_p.V961M|NLRP1_ENST00000262467.5_Missense_Mutation_p.V991M|NLRP1_ENST00000572272.1_Missense_Mutation_p.V991M	NM_014922.4|NM_033004.3|NM_033007.3	NP_055737.1|NP_127497.1|NP_127500.1	Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	991					defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	cytoplasm|NALP1 inflammasome complex|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				GGGGTCATCACACTTGGTTTC	0.498													14	303					0	0	1	0	0	T	5437298	C	T	5437298	3	4	40	1	0	0	0	0	1	0	0	0	10518	478	17	2	1561	2	NLRP1	17	5437298	Missense_Mutation	SNP	C	TCGA-DB-A64L-01A-11D-A29Q-08	3638908	5437298	75757912	83	1768											
MYH4	4622	broad.mit.edu	37	17	10368903	10368903	+	Missense_Mutation	SNP	G	G	T			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr17:10368903G>T	ENST00000255381.2	-	5	471	c.361C>A	c.(361-363)Ctc>Atc	p.L121I	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	121	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						ACACAGAAGAGGCCCGAGTAG	0.552													17	138					1.99824e-07	2.15435e-07	1	1	0	T	10368903	G	T	10368903	3	4	40	1	0	0	0	0	1	0	0	0	10085	1000	35	4	5602	4	MYH4	17	10368903	Missense_Mutation	SNP	G	TCGA-DB-A64L-01A-11D-A29Q-08	4931605	10368903	70826307	84	1769											
DNAH9	1770	broad.mit.edu	37	17	11593161	11593161	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr17:11593161G>A	ENST00000262442.4	+	20	4090	c.4022G>A	c.(4021-4023)cGg>cAg	p.R1341Q	DNAH9_ENST00000454412.2_Missense_Mutation_p.R1341Q	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9		Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CAGTTTGCCCGGCATATCCGA	0.562													13	19					0	0	1	0	0	A	11593161	G	A	11593161	3	1	40	1	0	0	0	0	1	0	0	0	4635	1116	39	1	4100	1	DNAH9	17	11593161	Missense_Mutation	SNP	G	TCGA-DB-A64L-01A-11D-A29Q-08	1224258	11593161	69602049	85	1770											
KSR1	8844	broad.mit.edu	37	17	25932758	25932758	+	Missense_Mutation	SNP	A	A	G			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr17:25932758A>G	ENST00000398988.3	+	16	2013	c.1568A>G	c.(1567-1569)aAc>aGc	p.N523S	KSR1_ENST00000268763.6_Missense_Mutation_p.N523S|KSR1_ENST00000509603.2_Missense_Mutation_p.N638S|KSR1_ENST00000319524.6_Missense_Mutation_p.N660S	NM_014238.1	NP_055053.1	Q8IVT5	KSR1_HUMAN	kinase suppressor of ras 1	658					Ras protein signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	28	Lung NSC(42;0.00836)		BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		GAGGTGATGAACTACCGGCAG	0.617													4	39					0	0	1	0	0	G	25932758	A	G	25932758	3	3	40	1	0	0	0	0	1	0	0	0	8620	43	2	3	1614	3	KSR1	17	25932758	Missense_Mutation	SNP	A	TCGA-DB-A64L-01A-11D-A29Q-08	14339597	25932758	55262452	86	1771											
GGNBP2	79893	broad.mit.edu	37	17	34901690	34901691	+	Frame_Shift_Ins	INS	-	-	C			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr17:34901690_34901691insC	ENST00000485685.2	+	2	409_410	c.117_118insC	c.(118-120)cccfs	p.P40fs	GGNBP2_ENST00000304718.4_Intron			Q9H3C7	GGNB2_HUMAN	gametogenetin binding protein 2	0					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasmic membrane-bounded vesicle				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)	38		Breast(25;0.00957)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		gccgggctgggcccgccgcTCC	0.678													5	6	---	---	---	---						C	34901691	-	C	34901690	7	5	40	1	0	1	1	0	0	0	0	0	6401	1218	42	0		0	GGNBP2	17	34901690	Frame_Shift_Ins	INS	-	TCGA-DB-A64L-01A-11D-A29Q-08	8968932	34901690	46293520	87	1772											
CSH2	1443	broad.mit.edu	37	17	61949673	61949673	+	Missense_Mutation	SNP	T	T	A			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr17:61949673T>A	ENST00000392886.2	-	5	618	c.467A>T	c.(466-468)gAc>gTc	p.D156V	CSH2_ENST00000345366.7_Missense_Mutation_p.D61V|CSH2_ENST00000336844.5_3'UTR|CSH2_ENST00000560142.1_Missense_Mutation_p.D99V	NM_020991.3	NP_066271.1	P01243	CSH_HUMAN	chorionic somatomammotropin hormone 2	156					female pregnancy|signal transduction	extracellular region	hormone activity|metal ion binding			endometrium(2)|large_intestine(1)|lung(3)	6						GCGGCTGCCGTCTTCCAGCCT	0.557													17	146					0	0	1	0	0	A	61949673	T	A	61949673	3	1	40	1	0	0	0	0	1	0	0	0	3966	1667	58	5	190	5	CSH2	17	61949673	Missense_Mutation	SNP	T	TCGA-DB-A64L-01A-11D-A29Q-08	27047983	61949673	19245537	88	1773											
CD300E	342510	broad.mit.edu	37	17	72613294	72613294	+	Silent	SNP	G	G	A	rs77873791	by1000genomes	TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr17:72613294G>A	ENST00000392619.1	-	2	467	c.432C>T	c.(430-432)cgC>cgT	p.R144R	CD300E_ENST00000328630.3_Silent_p.R117R|CD300E_ENST00000426295.2_Silent_p.R158R	NM_181449.2	NP_852114.2	Q496F6	CLM2_HUMAN	CD300e molecule	117						integral to membrane|plasma membrane	receptor activity			breast(1)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	19						CCGAGGGATCGCGTGACCATG	0.537													5	102					0	0	1	0	0	A	72613294	G	A	72613294	2	1	40	1	0	0	0	0	0	0	0	1	3020	1074	38	1		1	CD300E	17	72613294	Silent	SNP	G	TCGA-DB-A64L-01A-11D-A29Q-08	10663621	72613294	8581916	89	1774											
MC5R	4161	broad.mit.edu	37	18	13826500	13826500	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr18:13826500G>A	ENST00000324750.3	+	1	958	c.736G>A	c.(736-738)Gtg>Atg	p.V246M		NM_005913.2	NP_005904.1	P33032	MC5R_HUMAN	melanocortin 5 receptor	246					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocortin receptor activity|protein binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|upper_aerodigestive_tract(1)	41						GCTGCTGGGCGTGTTTACCGT	0.597													9	169					0	0	1	0	0	A	13826500	G	A	13826500	3	1	40	1	0	0	0	0	1	0	0	0	9417	1145	40	1	738	1	MC5R	18	13826500	Missense_Mutation	SNP	G	TCGA-DB-A64L-01A-11D-A29Q-08		13826500	64250748	90	1775											
SETBP1	26040	broad.mit.edu	37	18	42531834	42531834	+	Silent	SNP	C	C	T			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr18:42531834C>T	ENST00000282030.5	+	4	2825	c.2529C>T	c.(2527-2529)tgC>tgT	p.C843C		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	843						nucleus	DNA binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		CACACCTGTGCGAGATTGGCT	0.552									Schinzel-Giedion syndrome				6	68					0	0	1	0	0	T	42531834	C	T	42531834	2	4	40	1	0	0	0	0	0	0	0	1	14183	776	27	1		1	SETBP1	18	42531834	Silent	SNP	C	TCGA-DB-A64L-01A-11D-A29Q-08	28705334	42531834	35545414	91	1776											
MBD1	4152	broad.mit.edu	37	18	47800597	47800597	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr18:47800597G>A	ENST00000591416.1	-	11	1536	c.1105C>T	c.(1105-1107)Cgc>Tgc	p.R369C	MBD1_ENST00000398488.1_Intron|MBD1_ENST00000269468.5_Missense_Mutation_p.R369C|MBD1_ENST00000587605.1_Intron|MBD1_ENST00000591535.1_Missense_Mutation_p.R346C|MBD1_ENST00000347968.3_Intron|MBD1_ENST00000398495.2_Intron|MBD1_ENST00000339998.6_Missense_Mutation_p.R369C|MBD1_ENST00000269471.5_Missense_Mutation_p.R346C|MBD1_ENST00000349085.2_Intron|MBD1_ENST00000382948.5_Missense_Mutation_p.R369C|MBD1_ENST00000353909.3_Missense_Mutation_p.R320C|MBD1_ENST00000585595.1_Missense_Mutation_p.R394C|MBD1_ENST00000457839.2_Missense_Mutation_p.R394C|MBD1_ENST00000424334.2_Missense_Mutation_p.R420C|MBD1_ENST00000588937.1_Missense_Mutation_p.R346C|MBD1_ENST00000585672.1_Missense_Mutation_p.R319C|MBD1_ENST00000398493.1_Intron|MBD1_ENST00000590208.1_Missense_Mutation_p.R369C|MBD1_ENST00000436910.1_Missense_Mutation_p.R346C			Q9UIS9	MBD1_HUMAN	methyl-CpG binding domain protein 1	369					negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|nuclear speck	methyl-CpG binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36						CACTTCTGGCGCTTCTGGTTG	0.662													25	175					0	0	1	0	0	A	47800597	G	A	47800597	3	1	40	1	0	0	0	0	1	0	0	0	9392	1087	38	1	930	1	MBD1	18	47800597	Missense_Mutation	SNP	G	TCGA-DB-A64L-01A-11D-A29Q-08	5268763	47800597	30276651	92	1777											
MRO	83876	broad.mit.edu	37	18	48327796	48327796	+	Missense_Mutation	SNP	A	A	T	rs141296827		TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr18:48327796A>T	ENST00000428869.2	-	7	766	c.508T>A	c.(508-510)Ttt>Att	p.F170I	MRO_ENST00000256425.2_Missense_Mutation_p.F170I|MRO_ENST00000588444.1_Intron|MRO_ENST00000398439.3_Missense_Mutation_p.F170I|MRO_ENST00000436348.2_Missense_Mutation_p.F184I|MRO_ENST00000431965.2_Intron|MRO_ENST00000587291.1_5'UTR			Q9BYG7	MSTRO_HUMAN	maestro	170						nucleolus	binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)|skin(2)	10		Colorectal(6;0.0596)		Colorectal(21;0.082)		CTGGTGAAAAATTTTTTCCAT	0.483													80	101					0	0	1	0	0	T	48327796	A	T	48327796	3	4	40	1	0	0	0	0	1	0	0	0	9821	101	4	4	250	4	MRO	18	48327796	Missense_Mutation	SNP	A	TCGA-DB-A64L-01A-11D-A29Q-08	527199	48327796	29749452	93	1778											
BSG	682	broad.mit.edu	37	19	579583	579583	+	Missense_Mutation	SNP	A	A	T			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr19:579583A>T	ENST00000333511.3	+	3	569	c.499A>T	c.(499-501)Aca>Tca	p.T167S	BSG_ENST00000574970.1_3'UTR|BSG_ENST00000353555.4_Missense_Mutation_p.T51S|BSG_ENST00000545507.2_5'UTR|BSG_ENST00000346916.4_Intron	NM_001728.3	NP_001719.2	P35613	BASI_HUMAN	basigin	167	Ig-like C2-type.				blood coagulation|cell surface receptor linked signaling pathway|leukocyte migration|pyruvate metabolic process	Golgi membrane|integral to membrane|melanosome	lactate transmembrane transporter activity|mannose binding|protein binding			central_nervous_system(1)|endometrium(3)|lung(1)	5		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)		CACAGAGGTCACAGGGCACCG	0.632													8	85					0	0	1	0	0	T	579583	A	T	579583	3	4	40	1	0	0	0	0	1	0	0	0	1531	159	6	5	545	5	BSG	19	579583	Missense_Mutation	SNP	A	TCGA-DB-A64L-01A-11D-A29Q-08		579583	58549400	94	1779											
UQCR11	10975	broad.mit.edu	37	19	1605408	1605408	+	Translation_Start_Site	SNP	T	T	C			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr19:1605408T>C	ENST00000591899.3	-	1	72	c.1A>G	c.(1-3)Atg>Gtg	p.M1V	UQCR11_ENST00000585937.1_Start_Codon_SNP_p.M1V|UQCR11_ENST00000585671.1_Start_Codon_SNP_p.M1V|UQCR11_ENST00000593029.1_5'UTR|UQCR11_ENST00000589880.1_Start_Codon_SNP_p.M1V	NM_006830.3	NP_006821.1	O14957	QCR10_HUMAN	ubiquinol-cytochrome c reductase, complex III subunit XI	1					respiratory electron transport chain	integral to membrane|mitochondrial inner membrane|respiratory chain	electron carrier activity			breast(1)|lung(2)|ovary(1)|prostate(1)	5						CGGGTCACCATCGCGGCGGAG	0.766													4	12					0	0	1	0	0	C	1605408	T	C	1605408	1	2	40	1	0	0	0	0	0	0	0	0	17077	1435	50	3		3	UQCR11	19	1605408	Translation_Start_Site	SNP	T	TCGA-DB-A64L-01A-11D-A29Q-08	1025825	1605408	57523575	95	1780											
MAN2B1	4125	broad.mit.edu	37	19	12763077	12763077	+	Missense_Mutation	SNP	C	C	T	rs148661421		TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr19:12763077C>T	ENST00000456935.2	-	16	1976	c.1936G>A	c.(1936-1938)Gcc>Acc	p.A646T	MAN2B1_ENST00000221363.4_Missense_Mutation_p.A645T	NM_000528.3|NM_001173498.1	NP_000519.2|NP_001166969.1	O00754	MA2B1_HUMAN	mannosidase, alpha, class 2B, member 1	646					protein deglycosylation	lysosome	alpha-mannosidase activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						CCTATACTGGCGTTGTACCTG	0.592													7	105					0	0	1	0	0	T	12763077	C	T	12763077	3	4	40	1	0	0	0	0	1	0	0	0	9266	768	27	1	1135	1	MAN2B1	19	12763077	Missense_Mutation	SNP	C	TCGA-DB-A64L-01A-11D-A29Q-08	11157669	12763077	46365906	96	1781											
ZNF208	7757	broad.mit.edu	37	19	22155989	22155989	+	Missense_Mutation	SNP	T	T	C			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr19:22155989T>C	ENST00000397126.4	-	4	1995	c.1847A>G	c.(1846-1848)aAa>aGa	p.K616R	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2			zinc finger protein 208											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				ACTAAAGGTTTTGCCACATTC	0.368													6	60					0	0	1	0	0	C	22155989	T	C	22155989	3	2	40	1	0	0	0	0	1	0	0	0	17824	1841	64	3	1999	3	ZNF208	19	22155989	Missense_Mutation	SNP	T	TCGA-DB-A64L-01A-11D-A29Q-08	9392912	22155989	36972994	97	1782											
CIC	23152	broad.mit.edu	37	19	42793215	42793218	+	Frame_Shift_Del	DEL	CAGT	CAGT	-			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr19:42793215_42793218delCAGT	ENST00000572681.2	+	8	3902_3905	c.3834_3837delCAGT	c.(3832-3837)gacagtfs	p.DS1278fs	CIC_ENST00000575354.2_Frame_Shift_Del_p.DS369fs|CIC_ENST00000160740.3_Frame_Shift_Del_p.DS369fs			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	369	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				GAGAAGTAGACAGTCAGGCGCTAC	0.667			"Mis, F, S"		oligodendroglioma								69	61	---	---	---	---						-	42793218	CAGT	-	42793215	7	5	40	1	0	1	0	1	0	0	0	0	3446	477	17	0	1133	0	CIC	19	42793215	Frame_Shift_Del	DEL	CAGT	TCGA-DB-A64L-01A-11D-A29Q-08	20637226	42793215	16335768	98	1783											
LMTK3	114783	broad.mit.edu	37	19	48994758	48994758	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr19:48994758delG	ENST00000600059.1	-	13	4358	c.4131delC	c.(4129-4131)cccfs	p.P1377fs	LMTK3_ENST00000270238.3_Frame_Shift_Del_p.P1406fs					lemur tyrosine kinase 3											breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1)	16		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)		TGTCCCCCTCGGGGGGGGCCT	0.662													2	4	---	---	---	---						-	48994758	G	-	48994758	7	5	40	1	0	1	0	1	0	0	0	0	8901	1103	39	0	263	0	LMTK3	19	48994758	Frame_Shift_Del	DEL	G	TCGA-DB-A64L-01A-11D-A29Q-08	6201543	48994758	10134225	99	1784											
KLK15	55554	broad.mit.edu	37	19	51330971	51330971	+	Silent	SNP	G	G	A			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr19:51330971G>A	ENST00000326856.4	-	3	270	c.141C>T	c.(139-141)ggC>ggT	p.G47G	KLK15_ENST00000416184.1_Silent_p.G48G|KLK15_ENST00000596931.1_Silent_p.G47G|KLK15_ENST00000301421.2_Silent_p.G48G|KLK15_ENST00000598239.1_Silent_p.G48G	NM_001277081.1	NP_001264010.1	Q9H2R5	KLK15_HUMAN	kallikrein-related peptidase 15	48	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.0143)		TGAGGGAAGCGCCACAGTTAA	0.632													3	34					0	0	1	0	0	A	51330971	G	A	51330971	2	1	40	1	0	0	0	0	0	0	0	1	8446	1074	38	1		1	KLK15	19	51330971	Silent	SNP	G	TCGA-DB-A64L-01A-11D-A29Q-08	2336213	51330971	7798012	100	1785											
NLRP5	126206	broad.mit.edu	37	19	56515215	56515215	+	Missense_Mutation	SNP	C	C	A			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr19:56515215C>A	ENST00000390649.3	+	2	196	c.196C>A	c.(196-198)Caa>Aaa	p.Q66K		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	66	DAPIN.					mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		CTACGGGCTGCAATGGTGTCT	0.418													9	56					0.0692343	0.0702525	1	1	0	A	56515215	C	A	56515215	3	1	40	1	0	0	0	0	1	0	0	0	10527	711	25	5	202	5	NLRP5	19	56515215	Missense_Mutation	SNP	C	TCGA-DB-A64L-01A-11D-A29Q-08	5184244	56515215	2613768	101	1786											
ZBTB45	84878	broad.mit.edu	37	19	59028371	59028371	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr19:59028371C>T	ENST00000594051.1	-	2	1150	c.670G>A	c.(670-672)Gaa>Aaa	p.E224K	ZBTB45_ENST00000354590.3_Missense_Mutation_p.E224K|ZBTB45_ENST00000600990.1_Missense_Mutation_p.E224K			Q96K62	ZBT45_HUMAN	zinc finger and BTB domain containing 45	224					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|lung(5)|urinary_tract(1)	11		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0165)|Lung(386;0.18)		CCGCCACCTTCGCCATCCTCG	0.662											OREG0025700	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	53	332					0	0	1	0	0	T	59028371	C	T	59028371	3	4	40	1	0	0	0	0	1	0	0	0	17605	893	31	1	873	1	ZBTB45	19	59028371	Missense_Mutation	SNP	C	TCGA-DB-A64L-01A-11D-A29Q-08	2513156	59028371	100612	102	1787											
SIGLEC1	6614	broad.mit.edu	37	20	3674159	3674159	+	Missense_Mutation	SNP	C	C	A			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr20:3674159C>A	ENST00000344754.4	-	13	3442	c.3443G>T	c.(3442-3444)cGc>cTc	p.R1148L	SIGLEC1_ENST00000202578.4_Missense_Mutation_p.R1148L	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	1148	Ig-like C2-type 11.				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						CACACCGCAGCGGTAGGAGGT	0.657													3	40					0.115264	0.116105	1	1	0	A	3674159	C	A	3674159	3	1	40	1	0	0	0	0	1	0	0	0	14360	768	27	5	1722	5	SIGLEC1	20	3674159	Missense_Mutation	SNP	C	TCGA-DB-A64L-01A-11D-A29Q-08		3674159	59351361	103	1788											
CD93	22918	broad.mit.edu	37	20	23065099	23065099	+	Silent	SNP	G	G	A			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr20:23065099G>A	ENST00000246006.4	-	1	1878	c.1731C>T	c.(1729-1731)gaC>gaT	p.D577D		NM_012072.3	NP_036204.2	Q9NPY3	C1QR1_HUMAN	CD93 molecule	577					cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding			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)					GCTTTTGCCCGTCAGTGCCAT	0.617													45	104					0	0	1	0	0	A	23065099	G	A	23065099	2	1	40	1	0	0	0	0	0	0	0	1	3069	1136	40	1		1	CD93	20	23065099	Silent	SNP	G	TCGA-DB-A64L-01A-11D-A29Q-08	19390940	23065099	39960421	104	1789											
GSS	2937	broad.mit.edu	37	20	33533879	33533879	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr20:33533879G>A	ENST00000216951.2	-	3	250	c.152C>T	c.(151-153)aCg>aTg	p.T51M	GSS_ENST00000451957.2_Missense_Mutation_p.T51M|GSS_ENST00000541098.1_De_novo_Start_InFrame	NM_000178.2	NP_000169.1	P48637	GSHB_HUMAN	glutathione synthetase	51					nervous system development|response to oxidative stress|xenobiotic metabolic process	cytosol	ATP binding|glutathione binding|glutathione synthase activity|magnesium ion binding|protein homodimerization activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(18;0.035)		Glutathione(DB00143)|Glycine(DB00145)|L-Cysteine(DB00151)	GGGGAAGAGCGTGAATGGGGC	0.567													4	169					0	0	1	0	0	A	33533879	G	A	33533879	3	1	40	1	0	0	0	0	1	0	0	0	6870	1145	40	1	1316	1	GSS	20	33533879	Missense_Mutation	SNP	G	TCGA-DB-A64L-01A-11D-A29Q-08	10468780	33533879	29491641	105	1790											
VSTM2L	128434	broad.mit.edu	37	20	36560093	36560093	+	Missense_Mutation	SNP	A	A	G			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr20:36560093A>G	ENST00000373461.4	+	2	425	c.178A>G	c.(178-180)Atg>Gtg	p.M60V	VSTM2L_ENST00000373459.4_Intron|VSTM2L_ENST00000373458.3_Missense_Mutation_p.M60V	NM_080607.2	NP_542174.1	Q96N03	VTM2L_HUMAN	V-set and transmembrane domain containing 2 like	60	Ig-like.									central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(4)|ovary(1)|skin(1)	8		Myeloproliferative disorder(115;0.00878)				GGACGTGGAGATGGCCTGCTC	0.632													41	210					0	0	1	0	0	G	36560093	A	G	36560093	3	3	40	1	0	0	0	0	1	0	0	0	17290	333	12	3	184	3	VSTM2L	20	36560093	Missense_Mutation	SNP	A	TCGA-DB-A64L-01A-11D-A29Q-08	3026214	36560093	26465427	106	1791											
KCNJ15	3772	broad.mit.edu	37	21	39671497	39671497	+	Frame_Shift_Del	DEL	C	C	-	rs148451839	byFrequency	TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr21:39671497delC	ENST00000328656.4	+	4	617	c.314delC	c.(313-315)accfs	p.T105fs	KCNJ15_ENST00000398934.1_Frame_Shift_Del_p.T105fs|KCNJ15_ENST00000398938.2_Frame_Shift_Del_p.T105fs|KCNJ15_ENST00000398930.1_Frame_Shift_Del_p.T105fs|KCNJ15_ENST00000398932.1_Frame_Shift_Del_p.T105fs	NM_001276437.1|NM_001276438.1|NM_001276439.1|NM_002243.3	NP_001263366.1|NP_001263367.1|NP_001263368.1|NP_002234.2	Q99712	IRK15_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 15						synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	24						TCAAATCATACCCCCTGCATC	0.488													15	135	---	---	---	---						-	39671497	C	-	39671497	7	5	40	1	0	1	0	1	0	0	0	0	8093	507	18	0	316	0	KCNJ15	21	39671497	Frame_Shift_Del	DEL	C	TCGA-DB-A64L-01A-11D-A29Q-08		39671497	8458398	107	1792											
FTCD	10841	broad.mit.edu	37	21	47571515	47571515	+	Missense_Mutation	SNP	C	C	T	rs142358848		TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr21:47571515C>T	ENST00000397748.1	-	5	636	c.593G>A	c.(592-594)cGc>cAc	p.R198H	FTCD_ENST00000355384.2_Missense_Mutation_p.R198H|FTCD_ENST00000359679.2_Missense_Mutation_p.R198H|FTCD_ENST00000291670.5_Missense_Mutation_p.R198H|FTCD_ENST00000397743.1_Missense_Mutation_p.R198H|FTCD_ENST00000397746.3_Missense_Mutation_p.R198H|FTCD_ENST00000498355.2_5'UTR			O95954	FTCD_HUMAN	formimidoyltransferase cyclodeaminase	198	Formiminotransferase C-subdomain (By similarity).				folic acid-containing compound metabolic process|histidine catabolic process	centriole|cytosol|Golgi apparatus	folic acid binding|formimidoyltetrahydrofolate cyclodeaminase activity|glutamate formimidoyltransferase activity			endometrium(1)|large_intestine(2)|lung(9)|pancreas(1)|prostate(3)|skin(3)	19	Breast(49;0.214)			Colorectal(79;0.235)	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116)	GAGCGCGATGCGGTGGGCTTG	0.642													4	129					0	0	1	0	0	T	47571515	C	T	47571515	3	4	40	1	0	0	0	0	1	0	0	0	6116	768	27	1	1072	1	FTCD	21	47571515	Missense_Mutation	SNP	C	TCGA-DB-A64L-01A-11D-A29Q-08	7900018	47571515	558380	108	1793											
SHROOM2	357	broad.mit.edu	37	X	9900279	9900279	+	Missense_Mutation	SNP	G	G	C			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chrX:9900279G>C	ENST00000380913.3	+	6	3046	c.2956G>C	c.(2956-2958)Gca>Cca	p.A986P	SHROOM2_ENST00000418909.2_5'UTR|SHROOM2_ENST00000493668.1_3'UTR	NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN	shroom family member 2	986					apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization	apical plasma membrane|cell-cell adherens junction|microtubule|tight junction	actin filament binding|beta-catenin binding|ligand-gated sodium channel activity			breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57		Hepatocellular(5;0.000888)				GAGTCAGAAGGCACCGAACCC	0.587													8	168					0	0	1	0	0	C	9900279	G	C	9900279	3	2	40	1	0	0	0	0	1	0	0	0	14349	1203	42	5	2978	5	SHROOM2	23	9900279	Missense_Mutation	SNP	G	TCGA-DB-A64L-01A-11D-A29Q-08		9900279	145370281	109	1794											
GPM6B	2824	broad.mit.edu	37	X	13795537	13795537	+	Silent	SNP	A	A	G			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chrX:13795537A>G	ENST00000454189.2	-	5	655	c.528T>C	c.(526-528)atT>atC	p.I176I	GPM6B_ENST00000316715.4_Silent_p.I235I|GPM6B_ENST00000493677.1_Silent_p.I209I|GPM6B_ENST00000355135.2_Silent_p.I235I|GPM6B_ENST00000356942.5_Silent_p.I195I|GPM6B_ENST00000398361.3_Silent_p.I109I	NM_001001994.1	NP_001001994.1	Q13491	GPM6B_HUMAN	glycoprotein M6B	195					cell differentiation|nervous system development	integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|ovary(1)|pancreas(1)	6						CATTCCAAGGAATGATACCTG	0.438													3	37					0	0	1	0	0	G	13795537	A	G	13795537	2	3	40	1	0	0	0	0	0	0	0	1	6656	242	9	3		3	GPM6B	23	13795537	Silent	SNP	A	TCGA-DB-A64L-01A-11D-A29Q-08	3895258	13795537	141475023	110	1795											
REPS2	9185	broad.mit.edu	37	X	17065569	17065569	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chrX:17065569C>T	ENST00000357277.3	+	6	1042	c.871C>T	c.(871-873)Cga>Tga	p.R291*	REPS2_ENST00000303843.7_Nonsense_Mutation_p.R290*|REPS2_ENST00000380064.4_Nonsense_Mutation_p.R151*	NM_001080975.1|NM_004726.2	NP_001074444.1|NP_004717.2	Q8NFH8	REPS2_HUMAN	RALBP1 associated Eps domain containing 2	291	EH 2.				epidermal growth factor receptor signaling pathway|protein complex assembly	cytoplasm	calcium ion binding|protein binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(2)|skin(3)|urinary_tract(1)	17	Hepatocellular(33;0.183)					CAATCAGTTCCGATCCCTTCA	0.488													72	137					0	0	1	0	0	T	17065569	C	T	17065569	4	4	40	1	0	0	0	0	0	1	0	0	13281	644	23	1	893	1	REPS2	23	17065569	Nonsense_Mutation	SNP	C	TCGA-DB-A64L-01A-11D-A29Q-08	3270032	17065569	138204991	111	1796											
NHS	4810	broad.mit.edu	37	X	17394316	17394316	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chrX:17394316G>A	ENST00000380060.3	+	1	774	c.436G>A	c.(436-438)Gct>Act	p.A146T		NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	146						nucleus				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					GGCCCGGCACGCTTGCAGCCT	0.726													10	13					0	0	1	0	0	A	17394316	G	A	17394316	3	1	40	1	0	0	0	0	1	0	0	0	10458	1087	38	1	438	1	NHS	23	17394316	Missense_Mutation	SNP	G	TCGA-DB-A64L-01A-11D-A29Q-08	328747	17394316	137876244	112	1797											
FAM47A	158724	broad.mit.edu	37	X	34150160	34150160	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chrX:34150160G>A	ENST00000346193.3	-	1	287	c.236C>T	c.(235-237)cCc>cTc	p.P79L		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	79										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						AGATATTTTGGGGAGTAAAAA	0.532													45	100					0	0	1	0	0	A	34150160	G	A	34150160	3	1	40	1	0	0	0	0	1	0	0	0	5605	1232	43	2	2143	2	FAM47A	23	34150160	Missense_Mutation	SNP	G	TCGA-DB-A64L-01A-11D-A29Q-08	16755844	34150160	121120400	113	1798											
USP9X	8239	broad.mit.edu	37	X	41075260	41075260	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chrX:41075260G>A	ENST00000324545.8	+	35	6073	c.5440G>A	c.(5440-5442)Gat>Aat	p.D1814N	USP9X_ENST00000378308.2_Missense_Mutation_p.D1814N	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked						BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						CAAGTTCAATGATTATTTTGA	0.408													16	91					0	0	1	0	0	A	41075260	G	A	41075260	3	1	40	1	0	0	0	0	1	0	0	0	17150	1290	45	2	5574	2	USP9X	23	41075260	Missense_Mutation	SNP	G	TCGA-DB-A64L-01A-11D-A29Q-08	6925100	41075260	114195300	114	1799											
AKAP4	8852	broad.mit.edu	37	X	49957836	49957836	+	Missense_Mutation	SNP	G	G	T			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chrX:49957836G>T	ENST00000376056.2	-	5	1651	c.1501C>A	c.(1501-1503)Caa>Aaa	p.Q501K	AKAP4_ENST00000481402.1_5'UTR|AKAP4_ENST00000376058.2_Intron|AKAP4_ENST00000358526.2_Missense_Mutation_p.Q510K|AKAP4_ENST00000376064.3_Missense_Mutation_p.Q501K			Q5JQC9	AKAP4_HUMAN	A kinase (PRKA) anchor protein 4	510					cell projection organization|single fertilization|sperm motility	cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum	protein kinase A binding			NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41	Ovarian(276;0.236)					CCTTGCTTTTGGTTCCAGATG	0.453													7	147					0.00307968	0.00319546	1	1	0	T	49957836	G	T	49957836	3	4	40	1	0	0	0	0	1	0	0	0	450	1357	47	5	1044	5	AKAP4	23	49957836	Missense_Mutation	SNP	G	TCGA-DB-A64L-01A-11D-A29Q-08	8882576	49957836	105312724	115	1800											
MORC4	79710	broad.mit.edu	37	X	106224616	106224616	+	Missense_Mutation	SNP	C	C	A			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chrX:106224616C>A	ENST00000355610.4	-	6	1040	c.766G>T	c.(766-768)Ggt>Tgt	p.G256C	MORC4_ENST00000255495.7_Missense_Mutation_p.G256C|MORC4_ENST00000535534.1_Missense_Mutation_p.G4C	NM_001085354.2|NM_024657.4	NP_001078823.1|NP_078933.3	Q8TE76	MORC4_HUMAN	MORC family CW-type zinc finger 4	256							ATP binding|zinc ion binding			endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	28						GAGGTAACACCGCCAGTCATT	0.353													12	117					1.08611e-07	1.18018e-07	1	1	0	A	106224616	C	A	106224616	3	1	40	1	0	0	0	0	1	0	0	0	9753	652	23	5	2095	5	MORC4	23	106224616	Missense_Mutation	SNP	C	TCGA-DB-A64L-01A-11D-A29Q-08	56266780	106224616	49045944	116	1801											
IRS4	8471	broad.mit.edu	37	X	107978515	107978515	+	Missense_Mutation	SNP	G	G	T			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chrX:107978515G>T	ENST00000372129.2	-	1	1136	c.1060C>A	c.(1060-1062)Ctg>Atg	p.L354M		NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	354						plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						GCGGACAGCAGGGTTAACAGG	0.612													5	415					0.014758	0.0150859	1	1	0	T	107978515	G	T	107978515	3	4	40	1	0	0	0	0	1	0	0	0	7886	991	35	4	2717	4	IRS4	23	107978515	Missense_Mutation	SNP	G	TCGA-DB-A64L-01A-11D-A29Q-08	1753899	107978515	47292045	117	1802											
PNMA3	29944	broad.mit.edu	37	X	152226308	152226308	+	Missense_Mutation	SNP	G	G	T			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chrX:152226308G>T	ENST00000447306.1	+	2	1232	c.896G>T	c.(895-897)aGt>aTt	p.S299I	PNMA3_ENST00000370264.4_Missense_Mutation_p.S299I|PNMA3_ENST00000370265.4_Missense_Mutation_p.S299I	NM_013364.4	NP_037496.4	Q9UL41	PNMA3_HUMAN	paraneoplastic Ma antigen 3	299					apoptosis	nucleolus	nucleic acid binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	16	Acute lymphoblastic leukemia(192;6.56e-05)					cgagtcttaagtggggccacc	0.502													12	77					2.27111e-07	2.42956e-07	1	1	0	T	152226308	G	T	152226308	3	4	40	1	0	0	0	0	1	0	0	0	12203	1029	36	4	898	4	PNMA3	23	152226308	Missense_Mutation	SNP	G	TCGA-DB-A64L-01A-11D-A29Q-08	44247793	152226308	3044252	118	1803											
NEGR1	257194	broad.mit.edu	37	1	72748064	72748065	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-DB-A64O-01A-11D-A29Q-08	TCGA-DB-A64O-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87995eb9-f8be-46af-af12-a5a7276bca3e	75d5cdcb-5e63-4663-a010-007bd579e55d	g.chr1:72748064_72748065delCA	ENST00000357731.5	-	1	352_353	c.113_114delTG	c.(112-114)gtgfs	p.V38fs	NEGR1_ENST00000434200.1_Frame_Shift_Del_p.V36fs	NM_173808.2	NP_776169.2	Q7Z3B1	NEGR1_HUMAN	neuronal growth regulator 1		Ig-like C2-type 1.				cell adhesion	anchored to membrane|plasma membrane				endometrium(1)|kidney(4)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(4;1.26e-06)|Renal(4;1.32e-08)|all_epithelial(4;5.39e-07)|Hepatocellular(141;0.117)		KIRC - Kidney renal clear cell carcinoma(4;0.00529)|Kidney(4;0.00609)|all cancers(265;0.022)|GBM - Glioblastoma multiforme(62;0.0382)|Epithelial(280;0.242)		AGGGGAAGTCCACACTCTGTCC	0.614													27	91	---	---	---	---						-	72748065	CA	-	72748064	7	5	41	1	0	1	0	1	0	0	0	0	10364	581	21	0	978	0	NEGR1	1	72748064	Frame_Shift_Del	DEL	CA	TCGA-DB-A64O-01A-11D-A29Q-08		72748064	176502557	1	1804											
NLRP3	114548	broad.mit.edu	37	1	247587695	247587695	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A64O-01A-11D-A29Q-08	TCGA-DB-A64O-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87995eb9-f8be-46af-af12-a5a7276bca3e	75d5cdcb-5e63-4663-a010-007bd579e55d	g.chr1:247587695C>T	ENST00000366497.2	+	4	1730	c.950C>T	c.(949-951)cCg>cTg	p.P317L	NLRP3_ENST00000348069.2_Missense_Mutation_p.P317L|NLRP3_ENST00000336119.3_Missense_Mutation_p.P317L|NLRP3_ENST00000366496.2_Missense_Mutation_p.P317L|NLRP3_ENST00000391828.3_Missense_Mutation_p.P317L|NLRP3_ENST00000391827.2_Missense_Mutation_p.P317L|NLRP3_ENST00000474792.1_3'UTR	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	317	NACHT.				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			CACATAGGACCGCTCTGCACT	0.567													39	110					0	0	1	0	0	T	247587695	C	T	247587695	3	4	41	1	0	0	0	0	1	0	0	0	10525	652	23	1	960	1	NLRP3	1	247587695	Missense_Mutation	SNP	C	TCGA-DB-A64O-01A-11D-A29Q-08	174839631	247587695	1662926	2	1805											
BIRC6	57448	broad.mit.edu	37	2	32724735	32724735	+	Missense_Mutation	SNP	A	A	T			TCGA-DB-A64O-01A-11D-A29Q-08	TCGA-DB-A64O-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87995eb9-f8be-46af-af12-a5a7276bca3e	75d5cdcb-5e63-4663-a010-007bd579e55d	g.chr2:32724735A>T	ENST00000421745.2	+	46	8724	c.8590A>T	c.(8590-8592)Aca>Tca	p.T2864S		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	2864					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					AGAATCGGTTACATTTTTAGT	0.443													9	183					0	0	1	0	0	T	32724735	A	T	32724735	3	4	41	1	0	0	0	0	1	0	0	0	1437	391	14	5	8772	5	BIRC6	2	32724735	Missense_Mutation	SNP	A	TCGA-DB-A64O-01A-11D-A29Q-08		32724735	210474638	3	1806											
FANCD2	2177	broad.mit.edu	37	3	10085520	10085520	+	Missense_Mutation	SNP	A	A	G			TCGA-DB-A64O-01A-11D-A29Q-08	TCGA-DB-A64O-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87995eb9-f8be-46af-af12-a5a7276bca3e	75d5cdcb-5e63-4663-a010-007bd579e55d	g.chr3:10085520A>G	ENST00000287647.3	+	14	1199	c.1106A>G	c.(1105-1107)gAa>gGa	p.E369G	FANCD2_ENST00000383807.1_Missense_Mutation_p.E369G|FANCD2_ENST00000383806.1_Missense_Mutation_p.E369G|FANCD2_ENST00000419585.1_Missense_Mutation_p.E369G	NM_033084.3	NP_149075.2	Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	369					DNA repair|response to gamma radiation	nucleoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		CAGGCAATTGAAAACACTGCC	0.388			"D, Mis, N, F"			"AML, leukemia"		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				7	17					0	0	1	0	0	G	10085520	A	G	10085520	3	3	41	1	0	0	0	0	1	0	0	0	5698	246	9	3	1156	3	FANCD2	3	10085520	Missense_Mutation	SNP	A	TCGA-DB-A64O-01A-11D-A29Q-08		10085520	187936910	4	1807											
CPN2	1370	broad.mit.edu	37	3	194062520	194062520	+	Silent	SNP	G	G	C			TCGA-DB-A64O-01A-11D-A29Q-08	TCGA-DB-A64O-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87995eb9-f8be-46af-af12-a5a7276bca3e	75d5cdcb-5e63-4663-a010-007bd579e55d	g.chr3:194062520G>C	ENST00000323830.3	-	2	1001	c.912C>G	c.(910-912)gtC>gtG	p.V304V	CPN2_ENST00000429275.1_Silent_p.V304V	NM_001080513.2	NP_001073982	P22792	CPN2_HUMAN	carboxypeptidase N, polypeptide 2	304					protein stabilization	extracellular region	enzyme regulator activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(5)|prostate(1)	27	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.65e-05)		TGCCCTCAGCGACAGTCTCCA	0.602													18	72					0	0	1	0	0	C	194062520	G	C	194062520	2	2	41	1	0	0	0	0	0	0	0	1	3833	1045	37	5		5	CPN2	3	194062520	Silent	SNP	G	TCGA-DB-A64O-01A-11D-A29Q-08	183977000	194062520	3959910	5	1808											
NDUFAF2	91942	broad.mit.edu	37	5	60241050	60241050	+	Translation_Start_Site	SNP	G	G	A			TCGA-DB-A64O-01A-11D-A29Q-08	TCGA-DB-A64O-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87995eb9-f8be-46af-af12-a5a7276bca3e	75d5cdcb-5e63-4663-a010-007bd579e55d	g.chr5:60241050G>A	ENST00000296597.5	+	0	95				NDUFAF2_ENST00000511107.1_De_novo_Start_OutOfFrame	NM_174889.4	NP_777549.1	Q8N183	MIMIT_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 2							membrane|mitochondrion	electron carrier activity|NADH dehydrogenase (ubiquinone) activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|ovary(1)	6		Lung NSC(810;3.36e-05)|Prostate(74;0.0225)|Ovarian(174;0.17)|Breast(144;0.237)				TGCGGGTCCCGCTGCTGGCAG	0.632													4	24					0	0	1	0	0	A	60241050	G	A	60241050	1	1	41	1	0	0	0	0	0	0	0	0	10322	1102	38	1		1	NDUFAF2	5	60241050	Translation_Start_Site	SNP	G	TCGA-DB-A64O-01A-11D-A29Q-08		60241050	120674210	6	1809											
SLC12A2	6558	broad.mit.edu	37	5	127448571	127448571	+	Silent	SNP	G	G	A			TCGA-DB-A64O-01A-11D-A29Q-08	TCGA-DB-A64O-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87995eb9-f8be-46af-af12-a5a7276bca3e	75d5cdcb-5e63-4663-a010-007bd579e55d	g.chr5:127448571G>A	ENST00000262461.2	+	2	1011	c.822G>A	c.(820-822)acG>acA	p.T274T	SLC12A2_ENST00000343225.4_Silent_p.T274T	NM_001046.2	NP_001037.1	P55011	S12A2_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 2	274					potassium ion transport|sodium ion transport|transepithelial ammonium transport|transepithelial chloride transport	integral to plasma membrane|membrane fraction	ammonia transmembrane transporter activity|sodium:potassium:chloride symporter activity			breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		all_cancers(142;0.0972)|Prostate(80;0.151)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	CTGTGGTCACGTATACTGCAG	0.368													4	90					0	0	1	0	0	A	127448571	G	A	127448571	2	1	41	1	0	0	0	0	0	0	0	1	14438	1132	40	1		1	SLC12A2	5	127448571	Silent	SNP	G	TCGA-DB-A64O-01A-11D-A29Q-08	67207521	127448571	53466689	7	1810											
GABRB2	2561	broad.mit.edu	37	5	160721230	160721230	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A64O-01A-11D-A29Q-08	TCGA-DB-A64O-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87995eb9-f8be-46af-af12-a5a7276bca3e	75d5cdcb-5e63-4663-a010-007bd579e55d	g.chr5:160721230C>T	ENST00000274547.2	-	11	1614	c.1397G>A	c.(1396-1398)cGc>cAc	p.R466H	GABRB2_ENST00000353437.6_Missense_Mutation_p.R428H|GABRB2_ENST00000520240.1_Missense_Mutation_p.R428H|GABRB2_ENST00000393959.1_Missense_Mutation_p.R466H|GABRB2_ENST00000517547.1_Missense_Mutation_p.R268H|GABRB2_ENST00000517901.1_Missense_Mutation_p.R365H	NM_000813.2|NM_021911.2	NP_000804.1|NP_068711.1	P47870	GBRB2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 2	466					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|GABA-A receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	TCTCCTCAGGCGACTTTTCTT	0.517													22	77					0	0	1	0	0	T	160721230	C	T	160721230	3	4	41	1	0	0	0	0	1	0	0	0	6202	768	27	1	145	1	GABRB2	5	160721230	Missense_Mutation	SNP	C	TCGA-DB-A64O-01A-11D-A29Q-08	33272659	160721230	20194030	8	1811											
TULP1	7287	broad.mit.edu	37	6	35474051	35474051	+	Splice_Site	SNP	C	C	T			TCGA-DB-A64O-01A-11D-A29Q-08	TCGA-DB-A64O-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87995eb9-f8be-46af-af12-a5a7276bca3e	75d5cdcb-5e63-4663-a010-007bd579e55d	g.chr6:35474051C>T	ENST00000229771.6	-	9	907	c.828G>A	c.(826-828)gcG>gcA	p.A276A	TULP1_ENST00000322263.4_Splice_Site_p.A223A	NM_003322.3	NP_003313.3	O00294	TULP1_HUMAN	tubby like protein 1	276					dendrite development|eye photoreceptor cell development|phagocytosis|photoreceptor cell maintenance|positive regulation of phagocytosis	cell junction|cytoplasm|extracellular region|photoreceptor inner segment|photoreceptor outer segment|synapse	actin filament binding|phosphatidylinositol-4,5-bisphosphate binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	19						GACAACTCACCGCTTTCTGTG	0.687													5	7					0	0	1	0	0	T	35474051	C	T	35474051	5	4	41	1	0	0	0	0	0	0	1	0	16835	666	23	1	828	1	TULP1	6	35474051	Splice_Site	SNP	C	TCGA-DB-A64O-01A-11D-A29Q-08		35474051	135641016	9	1812											
PHF3	23469	broad.mit.edu	37	6	64422286	64422286	+	Missense_Mutation	SNP	A	A	G			TCGA-DB-A64O-01A-11D-A29Q-08	TCGA-DB-A64O-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87995eb9-f8be-46af-af12-a5a7276bca3e	75d5cdcb-5e63-4663-a010-007bd579e55d	g.chr6:64422286A>G	ENST00000262043.3	+	16	5142	c.4802A>G	c.(4801-4803)cAa>cGa	p.Q1601R	PHF3_ENST00000393387.1_Missense_Mutation_p.Q1601R			Q92576	PHF3_HUMAN	PHD finger protein 3	1601					multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			CAGGAAGATCAAGAGAATAAT	0.333													16	33					0	0	1	0	0	G	64422286	A	G	64422286	3	3	41	1	0	0	0	0	1	0	0	0	11884	130	5	3	4860	3	PHF3	6	64422286	Missense_Mutation	SNP	A	TCGA-DB-A64O-01A-11D-A29Q-08	28948235	64422286	106692781	10	1813											
PEG10	23089	broad.mit.edu	37	7	94293706	94293706	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A64O-01A-11D-A29Q-08	TCGA-DB-A64O-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87995eb9-f8be-46af-af12-a5a7276bca3e	75d5cdcb-5e63-4663-a010-007bd579e55d	g.chr7:94293706C>T	ENST00000482108.1	+	2	1317	c.838C>T	c.(838-840)Cgc>Tgc	p.R280C	PEG10_ENST00000488574.1_Missense_Mutation_p.R280C	NM_001040152.1|NM_001172438.1|NM_001184962.1	NP_001035242.1|NP_001165909.1|NP_001171891.1	Q86TG7	PEG10_HUMAN	paternally expressed 10	280					apoptosis|cell differentiation|negative regulation of transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(9)|prostate(3)|skin(1)	21	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			TGCCCGCATGCGCCTGACGCA	0.602													3	25					0	0	1	0	0	T	94293706	C	T	94293706	3	4	41	1	0	0	0	0	1	0	0	0	11766	768	27	1	1072	1	PEG10	7	94293706	Missense_Mutation	SNP	C	TCGA-DB-A64O-01A-11D-A29Q-08		94293706	64844957	11	1814											
GRIN1	2902	broad.mit.edu	37	9	140061869	140061869	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DB-A64O-01A-11D-A29Q-08	TCGA-DB-A64O-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87995eb9-f8be-46af-af12-a5a7276bca3e	75d5cdcb-5e63-4663-a010-007bd579e55d	g.chr9:140061869delG	ENST00000371561.3	+	20	3804	c.2707delG	c.(2707-2709)gggfs	p.G905fs	GRIN1_ENST00000371555.4_Frame_Shift_Del_p.G889fs|GRIN1_ENST00000371559.4_Intron|GRIN1_ENST00000371546.4_Frame_Shift_Del_p.G926fs|GRIN1_ENST00000371550.4_Frame_Shift_Del_p.G868fs|GRIN1_ENST00000315048.3_Intron|GRIN1_ENST00000371553.3_Intron|GRIN1_ENST00000371560.3_Intron	NM_007327.3	NP_015566.1	Q05586	NMDZ1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 1	905					ionotropic glutamate receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|regulation of excitatory postsynaptic membrane potential|response to ethanol|visual learning	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane|synaptic vesicle|synaptosome	calcium ion binding|calmodulin binding|extracellular-glutamate-gated ion channel activity|glutamate binding|glycine binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;6.87e-05)|Epithelial(140;0.00095)	L-Glutamic Acid(DB00142)|Orphenadrine(DB01173)	ATAGAGCACCGGGGGTGGACG	0.647													2	4	---	---	---	---						-	140061869	G	-	140061869	7	5	41	1	0	1	0	1	0	0	0	0	6819	1116	39	0	2852	0	GRIN1	9	140061869	Frame_Shift_Del	DEL	G	TCGA-DB-A64O-01A-11D-A29Q-08		140061869	1151562	12	1815											
HPS6	79803	broad.mit.edu	37	10	103827403	103827403	+	Missense_Mutation	SNP	G	G	T			TCGA-DB-A64O-01A-11D-A29Q-08	TCGA-DB-A64O-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87995eb9-f8be-46af-af12-a5a7276bca3e	75d5cdcb-5e63-4663-a010-007bd579e55d	g.chr10:103827403G>T	ENST00000299238.5	+	1	2257	c.2172G>T	c.(2170-2172)gaG>gaT	p.E724D		NM_024747.5	NP_079023.2	Q86YV9	HPS6_HUMAN	Hermansky-Pudlak syndrome 6	724						cytosol|early endosome membrane|endoplasmic reticulum|microsome				endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)	11		Colorectal(252;0.122)		Epithelial(162;5.93e-08)|all cancers(201;1.03e-06)		CATTCCCTGAGCCTGGAGCAG	0.617									Hermansky-Pudlak syndrome				32	46					2.85442e-18	2.92953e-18	1	1	0	T	103827403	G	T	103827403	3	4	41	1	0	0	0	0	1	0	0	0	7384	962	34	4	2174	4	HPS6	10	103827403	Missense_Mutation	SNP	G	TCGA-DB-A64O-01A-11D-A29Q-08		103827403	31707344	13	1816											
PNLIPRP2	5408	broad.mit.edu	37	10	118396277	118396277	+	RNA	DEL	G	G	-	rs148140777	by1000genomes	TCGA-DB-A64O-01A-11D-A29Q-08	TCGA-DB-A64O-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87995eb9-f8be-46af-af12-a5a7276bca3e	75d5cdcb-5e63-4663-a010-007bd579e55d	g.chr10:118396277delG	ENST00000537242.1	+	0	962				PNLIPRP2_ENST00000298771.7_RNA|PNLIPRP2_ENST00000433618.4_RNA	NM_005396.4	NP_005387.2	P54317	LIPR2_HUMAN	pancreatic lipase-related protein 2						galactolipid catabolic process|lipid digestion|phospholipid catabolic process|triglyceride metabolic process	extracellular space	acylglycerol lipase activity|calcium ion binding|galactolipase activity|phospholipase activity|triglyceride lipase activity			endometrium(1)|large_intestine(1)|lung(11)|prostate(3)	16				all cancers(201;0.015)		GACAAATTATGGTTTTTTTTT	0.423													3	5	---	---	---	---						-	118396277	G	-	118396277	6	5	41	0	1	1	0	1	0	0	0	0	12199	1363	47	0		0	PNLIPRP2	10	118396277	RNA	DEL	G	TCGA-DB-A64O-01A-11D-A29Q-08	14568874	118396277	17138470	14	1817											
AMOTL1	154810	broad.mit.edu	37	11	94554782	94554782	+	Missense_Mutation	SNP	A	A	G			TCGA-DB-A64O-01A-11D-A29Q-08	TCGA-DB-A64O-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87995eb9-f8be-46af-af12-a5a7276bca3e	75d5cdcb-5e63-4663-a010-007bd579e55d	g.chr11:94554782A>G	ENST00000433060.2	+	4	1349	c.1208A>G	c.(1207-1209)cAc>cGc	p.H403R	AMOTL1_ENST00000317829.8_Missense_Mutation_p.H353R|AMOTL1_ENST00000317837.9_Intron|AMOTL1_ENST00000539727.1_3'UTR	NM_130847.2	NP_570899.1	Q8IY63	AMOL1_HUMAN	angiomotin like 1	403						cytoplasm|tight junction	identical protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	36		Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824)				GGGCCACTGCACTCTGTCTCC	0.667													10	28					0	0	1	0	0	G	94554782	A	G	94554782	3	3	41	1	0	0	0	0	1	0	0	0	579	159	6	3	1222	3	AMOTL1	11	94554782	Missense_Mutation	SNP	A	TCGA-DB-A64O-01A-11D-A29Q-08		94554782	40451734	15	1818											
TMEM133	83935	broad.mit.edu	37	11	100863216	100863216	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DB-A64O-01A-11D-A29Q-08	TCGA-DB-A64O-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87995eb9-f8be-46af-af12-a5a7276bca3e	75d5cdcb-5e63-4663-a010-007bd579e55d	g.chr11:100863216delC	ENST00000303130.2	+	1	406	c.177delC	c.(175-177)atcfs	p.I59fs		NM_032021.2	NP_114410.1	Q9H2Q1	TM133_HUMAN	transmembrane protein 133	59						integral to membrane				kidney(2)|large_intestine(1)|lung(1)|prostate(1)	5		Acute lymphoblastic leukemia(157;0.000869)|all_hematologic(158;0.014)		BRCA - Breast invasive adenocarcinoma(274;0.0675)		CTTCCAAAATCAAGACACTTT	0.388													26	104	---	---	---	---						-	100863216	C	-	100863216	7	5	41	1	0	1	0	1	0	0	0	0	16109	816	29	0	179	0	TMEM133	11	100863216	Frame_Shift_Del	DEL	C	TCGA-DB-A64O-01A-11D-A29Q-08	6308434	100863216	34143300	16	1819											
ABR	29	broad.mit.edu	37	17	1028592	1028592	+	Missense_Mutation	SNP	G	G	C			TCGA-DB-A64O-01A-11D-A29Q-08	TCGA-DB-A64O-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87995eb9-f8be-46af-af12-a5a7276bca3e	75d5cdcb-5e63-4663-a010-007bd579e55d	g.chr17:1028592G>C	ENST00000544583.2	-	2	633	c.34C>G	c.(34-36)Ccg>Gcg	p.P12A	ABR_ENST00000574437.1_Missense_Mutation_p.P12A|ABR_ENST00000302538.5_Missense_Mutation_p.P58A	NM_001159746.2	NP_001153218.1	Q12979	ABR_HUMAN	active BCR-related	58					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39				UCEC - Uterine corpus endometrioid carcinoma (25;0.0228)		CTGAGCTGCGGGGACATGGTG	0.672													43	143					0	0	1	0	0	C	1028592	G	C	1028592	3	2	41	1	0	0	0	0	1	0	0	0	99	1232	43	5	2634	5	ABR	17	1028592	Missense_Mutation	SNP	G	TCGA-DB-A64O-01A-11D-A29Q-08		1028592	80166618	17	1820	5	3									
ABR	29	broad.mit.edu	37	17	1028596	1028596	+	Missense_Mutation	SNP	C	C	A			TCGA-DB-A64O-01A-11D-A29Q-08	TCGA-DB-A64O-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87995eb9-f8be-46af-af12-a5a7276bca3e	75d5cdcb-5e63-4663-a010-007bd579e55d	g.chr17:1028596C>A	ENST00000544583.2	-	2	629	c.30G>T	c.(28-30)atG>atT	p.M10I	ABR_ENST00000574437.1_Missense_Mutation_p.M10I|ABR_ENST00000302538.5_Missense_Mutation_p.M56I	NM_001159746.2	NP_001153218.1	Q12979	ABR_HUMAN	active BCR-related	56					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39				UCEC - Uterine corpus endometrioid carcinoma (25;0.0228)		GCTGCGGGGACATGGTGGGCG	0.667													46	148					1.86633e-21	1.96722e-21	1	1	0	A	1028596	C	A	1028596	3	1	41	1	0	0	0	0	1	0	0	0	99	478	17	5	2638	5	ABR	17	1028596	Missense_Mutation	SNP	C	TCGA-DB-A64O-01A-11D-A29Q-08	4	1028596	80166614	18	1821	5	3									
ABR	29	broad.mit.edu	37	17	1028598	1028598	+	Missense_Mutation	SNP	T	T	A			TCGA-DB-A64O-01A-11D-A29Q-08	TCGA-DB-A64O-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87995eb9-f8be-46af-af12-a5a7276bca3e	75d5cdcb-5e63-4663-a010-007bd579e55d	g.chr17:1028598T>A	ENST00000544583.2	-	2	627	c.28A>T	c.(28-30)Atg>Ttg	p.M10L	ABR_ENST00000574437.1_Missense_Mutation_p.M10L|ABR_ENST00000302538.5_Missense_Mutation_p.M56L	NM_001159746.2	NP_001153218.1	Q12979	ABR_HUMAN	active BCR-related	56					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39				UCEC - Uterine corpus endometrioid carcinoma (25;0.0228)		TGCGGGGACATGGTGGGCGAC	0.672													45	153					0	0	1	0	0	A	1028598	T	A	1028598	3	1	41	1	0	0	0	0	1	0	0	0	99	1464	51	4	2640	4	ABR	17	1028598	Missense_Mutation	SNP	T	TCGA-DB-A64O-01A-11D-A29Q-08	2	1028598	80166612	19	1822	5	3									
MYH4	4622	broad.mit.edu	37	17	10348604	10348604	+	Missense_Mutation	SNP	C	C	T	rs144889690	byFrequency	TCGA-DB-A64O-01A-11D-A29Q-08	TCGA-DB-A64O-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87995eb9-f8be-46af-af12-a5a7276bca3e	75d5cdcb-5e63-4663-a010-007bd579e55d	g.chr17:10348604C>T	ENST00000255381.2	-	36	5355	c.5245G>A	c.(5245-5247)Gtc>Atc	p.V1749I	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1749					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						GCTTCCTGGACGATGTCCTCC	0.468													50	95					0	0	1	0	0	T	10348604	C	T	10348604	3	4	41	1	0	0	0	0	1	0	0	0	10085	536	19	1	594	1	MYH4	17	10348604	Missense_Mutation	SNP	C	TCGA-DB-A64O-01A-11D-A29Q-08	9320006	10348604	70846606	20	1823											
MYH2	4620	broad.mit.edu	37	17	10436665	10436665	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A64O-01A-11D-A29Q-08	TCGA-DB-A64O-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87995eb9-f8be-46af-af12-a5a7276bca3e	75d5cdcb-5e63-4663-a010-007bd579e55d	g.chr17:10436665C>T	ENST00000245503.5	-	21	2762	c.2378G>A	c.(2377-2379)cGa>cAa	p.R793Q	MYH2_ENST00000532183.2_Intron|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.R793Q|RP11-799N11.1_ENST00000581304.1_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	793	IQ.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						GGCCTGGGTTCGGGTAATCAG	0.473													19	59					0	0	1	0	0	T	10436665	C	T	10436665	3	4	41	1	0	0	0	0	1	0	0	0	10083	884	31	1	3527	1	MYH2	17	10436665	Missense_Mutation	SNP	C	TCGA-DB-A64O-01A-11D-A29Q-08	88061	10436665	70758545	21	1824											
MED9	55090	broad.mit.edu	37	17	17394705	17394707	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-DB-A64O-01A-11D-A29Q-08	TCGA-DB-A64O-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87995eb9-f8be-46af-af12-a5a7276bca3e	75d5cdcb-5e63-4663-a010-007bd579e55d	g.chr17:17394705_17394707delCAG	ENST00000268711.3	+	2	393_395	c.337_339delCAG	c.(337-339)cagdel	p.Q117del		NM_018019.2	NP_060489.1	Q9NWA0	MED9_HUMAN	mediator complex subunit 9	117					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		protein binding			cervix(1)|endometrium(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						GAGCCCCGAACAGCAGCAGCAGC	0.581													7	230	---	---	---	---						-	17394707	CAG	-	17394705	7	5	41	1	0	1	0	1	0	0	0	0	9504	479	17	0	343	0	MED9	17	17394705	In_Frame_Del	DEL	CAG	TCGA-DB-A64O-01A-11D-A29Q-08	6958040	17394705	63800505	22	1825											
NF1	4763	broad.mit.edu	37	17	29552216	29552216	+	Nonsense_Mutation	SNP	T	T	A			TCGA-DB-A64O-01A-11D-A29Q-08	TCGA-DB-A64O-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87995eb9-f8be-46af-af12-a5a7276bca3e	75d5cdcb-5e63-4663-a010-007bd579e55d	g.chr17:29552216T>A	ENST00000358273.4	+	17	2332	c.1949T>A	c.(1948-1950)tTa>tAa	p.L650*	NF1_ENST00000356175.3_Nonsense_Mutation_p.L650*	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	650					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		CATGAAGAATTACTACGTACT	0.423			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			38	119					0	0	1	0	0	A	29552216	T	A	29552216	4	1	41	1	0	0	0	0	0	1	0	0	10403	1764	61	5	2076	5	NF1	17	29552216	Nonsense_Mutation	SNP	T	TCGA-DB-A64O-01A-11D-A29Q-08	12157511	29552216	51642994	23	1826											
NF1	4763	broad.mit.edu	37	17	29562657	29562660	+	Frame_Shift_Del	DEL	TGTT	TGTT	-			TCGA-DB-A64O-01A-11D-A29Q-08	TCGA-DB-A64O-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87995eb9-f8be-46af-af12-a5a7276bca3e	75d5cdcb-5e63-4663-a010-007bd579e55d	g.chr17:29562657_29562660delTGTT	ENST00000358273.4	+	28	4120_4123	c.3737_3740delTGTT	c.(3736-3741)ctgtttfs	p.LF1246fs	NF1_ENST00000356175.3_Frame_Shift_Del_p.LF1246fs	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1246	Ras-GAP.				actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(4)|p.F1247fs*16(1)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		CTGGTTACTCTGTTTGATTCTCGG	0.412			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			62	192	---	---	---	---						-	29562660	TGTT	-	29562657	7	5	41	1	0	1	0	1	0	0	0	0	10403	1580	55	0	3908	0	NF1	17	29562657	Frame_Shift_Del	DEL	TGTT	TCGA-DB-A64O-01A-11D-A29Q-08	10441	29562657	51632553	24	1827											
ATP9B	374868	broad.mit.edu	37	18	77134067	77134067	+	Silent	SNP	C	C	T			TCGA-DB-A64O-01A-11D-A29Q-08	TCGA-DB-A64O-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87995eb9-f8be-46af-af12-a5a7276bca3e	75d5cdcb-5e63-4663-a010-007bd579e55d	g.chr18:77134067C>T	ENST00000426216.2	+	28	3257	c.3240C>T	c.(3238-3240)taC>taT	p.Y1080Y	ATP9B_ENST00000307671.7_Silent_p.Y1080Y|ATP9B_ENST00000543761.1_Silent_p.Y401Y	NM_198531.3	NP_940933.3	O43861	ATP9B_HUMAN	ATPase, class II, type 9B	1080					ATP biosynthetic process	integral to membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(3)|prostate(1)|skin(2)|stomach(1)	38		Esophageal squamous(42;0.018)|Melanoma(33;0.0964)|Prostate(75;0.171)		OV - Ovarian serous cystadenocarcinoma(15;1.44e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0405)		TAGGCTGCTACGTGTCCTCAC	0.478													17	47					0	0	1	0	0	T	77134067	C	T	77134067	2	4	41	1	0	0	0	0	0	0	0	1	1197	547	19	1		1	ATP9B	18	77134067	Silent	SNP	C	TCGA-DB-A64O-01A-11D-A29Q-08		77134067	943181	25	1828											
SLC9A7	84679	broad.mit.edu	37	X	46510652	46510652	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A64O-01A-11D-A29Q-08	TCGA-DB-A64O-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87995eb9-f8be-46af-af12-a5a7276bca3e	75d5cdcb-5e63-4663-a010-007bd579e55d	g.chrX:46510652C>T	ENST00000328306.4	-	10	1265	c.1240G>A	c.(1240-1242)Gag>Aag	p.E414K		NM_001257291.1|NM_032591.2	NP_001244220.1|NP_115980.1	Q96T83	SL9A7_HUMAN	solute carrier family 9, subfamily A (NHE7, cation proton antiporter 7), member 7	414					regulation of pH	Golgi membrane|integral to membrane|recycling endosome membrane|trans-Golgi network	potassium:hydrogen antiporter activity|protein homodimerization activity|sodium:hydrogen antiporter activity			breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)|skin(1)	21						TGTAACACCTCAAAGAGCTGC	0.498													19	22					0	0	1	0	0	T	46510652	C	T	46510652	3	4	41	1	0	0	0	0	1	0	0	0	14774	835	29	2	969	2	SLC9A7	23	46510652	Missense_Mutation	SNP	C	TCGA-DB-A64O-01A-11D-A29Q-08		46510652	108759908	26	1829											
NR5A2	2494	broad.mit.edu	37	1	200017321	200017321	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A64P-01A-11D-A29Q-08	TCGA-DB-A64P-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5864a37b-dfec-475c-95f4-2426c8e2772c	0bb265d4-0ce6-4374-890c-3f9e096dab5e	g.chr1:200017321G>A	ENST00000367362.3	+	5	731	c.485G>A	c.(484-486)cGt>cAt	p.R162H	NR5A2_ENST00000544748.1_Missense_Mutation_p.R90H|NR5A2_ENST00000236914.3_Missense_Mutation_p.R116H	NM_001276464.1|NM_205860.1	NP_001263393.1|NP_995582.1	O00482	NR5A2_HUMAN	nuclear receptor subfamily 5, group A, member 2	162					embryo development|positive regulation of viral genome replication|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	lipid binding|protein binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31	Prostate(682;0.19)					GACCGAATGCGTGGAGGAAGG	0.478													14	108					0	0	1	0	0	A	200017321	G	A	200017321	3	1	42	1	0	0	0	0	1	0	0	0	10684	1145	40	1	503	1	NR5A2	1	200017321	Missense_Mutation	SNP	G	TCGA-DB-A64P-01A-11D-A29Q-08		200017321	49233300	1	1830											
KDM5B	10765	broad.mit.edu	37	1	202719900	202719900	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DB-A64P-01A-11D-A29Q-08	TCGA-DB-A64P-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5864a37b-dfec-475c-95f4-2426c8e2772c	0bb265d4-0ce6-4374-890c-3f9e096dab5e	g.chr1:202719900G>A	ENST00000367265.3	-	13	2872	c.1708C>T	c.(1708-1710)Cga>Tga	p.R570*	KDM5B_ENST00000367264.2_Nonsense_Mutation_p.R606*	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B	570	JmjC.				negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						TGATTAGTTCGGTAAACCTAA	0.358													40	40					0	0	1	0	0	A	202719900	G	A	202719900	4	1	42	1	0	0	0	0	0	1	0	0	8177	1124	39	1	2986	1	KDM5B	1	202719900	Nonsense_Mutation	SNP	G	TCGA-DB-A64P-01A-11D-A29Q-08	2702579	202719900	46530721	2	1831											
OR2G6	391211	broad.mit.edu	37	1	248685210	248685210	+	Missense_Mutation	SNP	A	A	T			TCGA-DB-A64P-01A-11D-A29Q-08	TCGA-DB-A64P-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5864a37b-dfec-475c-95f4-2426c8e2772c	0bb265d4-0ce6-4374-890c-3f9e096dab5e	g.chr1:248685210A>T	ENST00000343414.4	+	1	295	c.263A>T	c.(262-264)aAa>aTa	p.K88I		NM_001013355.1	NP_001013373.1	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G, member 6	88					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			ATGAATAAGAAAGACAAAACC	0.517													39	90					0	0	1	0	0	T	248685210	A	T	248685210	3	4	42	1	0	0	0	0	1	0	0	0	11048	14	1	5	265	5	OR2G6	1	248685210	Missense_Mutation	SNP	A	TCGA-DB-A64P-01A-11D-A29Q-08	45965310	248685210	565411	3	1832											
STON1	11037	broad.mit.edu	37	2	48809142	48809142	+	Missense_Mutation	SNP	C	C	A			TCGA-DB-A64P-01A-11D-A29Q-08	TCGA-DB-A64P-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5864a37b-dfec-475c-95f4-2426c8e2772c	0bb265d4-0ce6-4374-890c-3f9e096dab5e	g.chr2:48809142C>A	ENST00000309835.3	+	1	1380	c.1370C>A	c.(1369-1371)aCc>aAc	p.T457N	STON1_ENST00000404752.1_Missense_Mutation_p.T457N|STON1-GTF2A1L_ENST00000394754.1_Missense_Mutation_p.T457N|STON1-GTF2A1L_ENST00000309827.2_Missense_Mutation_p.T457N|STON1-GTF2A1L_ENST00000402114.2_Missense_Mutation_p.T457N|STON1-GTF2A1L_ENST00000394751.3_Missense_Mutation_p.T457N|STON1_ENST00000406226.1_Missense_Mutation_p.T457N|STON1-GTF2A1L_ENST00000405008.1_Missense_Mutation_p.T457N					stonin 1											NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(19)|prostate(3)|skin(2)	37		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TGCTTTTTAACCTTGAATGAC	0.373													52	76					6.3008e-33	6.91552e-33	1	1	0	A	48809142	C	A	48809142	3	1	42	1	0	0	0	0	1	0	0	0	15372	507	18	5	1372	5	STON1	2	48809142	Missense_Mutation	SNP	C	TCGA-DB-A64P-01A-11D-A29Q-08		48809142	194390231	4	1833											
PLEK	5341	broad.mit.edu	37	2	68607922	68607922	+	Missense_Mutation	SNP	G	G	C			TCGA-DB-A64P-01A-11D-A29Q-08	TCGA-DB-A64P-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5864a37b-dfec-475c-95f4-2426c8e2772c	0bb265d4-0ce6-4374-890c-3f9e096dab5e	g.chr2:68607922G>C	ENST00000234313.7	+	3	445	c.266G>C	c.(265-267)aGa>aCa	p.R89T		NM_002664.2	NP_002655.2	P08567	PLEK_HUMAN	pleckstrin	89	PH 1.				actin cytoskeleton reorganization|cortical actin cytoskeleton organization|hemopoietic progenitor cell differentiation|inhibition of phospholipase C activity involved in G-protein coupled receptor signaling pathway|integrin-mediated signaling pathway|negative regulation of calcium-mediated signaling|negative regulation of inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|platelet aggregation|positive regulation of actin filament bundle assembly|positive regulation of actin filament depolymerization|positive regulation of inositol-polyphosphate 5-phosphatase activity|positive regulation of integrin activation|positive regulation of platelet activation|protein kinase C signaling cascade|protein secretion by platelet|regulation of cell diameter|ruffle organization|thrombin receptor signaling pathway|vesicle docking involved in exocytosis	cytosol|extracellular region|membrane fraction|ruffle membrane|soluble fraction	phosphatidylinositol-3,4-bisphosphate binding|protein homodimerization activity|protein kinase C binding			autonomic_ganglia(1)|endometrium(3)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	24		Ovarian(717;0.0129)		STAD - Stomach adenocarcinoma(1183;0.00159)|READ - Rectum adenocarcinoma(193;0.0419)		CTGGAGGAGAGAGATGCCTGG	0.468													9	162					0	0	1	0	0	C	68607922	G	C	68607922	3	2	42	1	0	0	0	0	1	0	0	0	12101	942	33	4	276	4	PLEK	2	68607922	Missense_Mutation	SNP	G	TCGA-DB-A64P-01A-11D-A29Q-08	19798780	68607922	174591451	5	1834											
ARHGEF4	50649	broad.mit.edu	37	2	131797917	131797917	+	Silent	SNP	C	C	A			TCGA-DB-A64P-01A-11D-A29Q-08	TCGA-DB-A64P-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5864a37b-dfec-475c-95f4-2426c8e2772c	0bb265d4-0ce6-4374-890c-3f9e096dab5e	g.chr2:131797917C>A	ENST00000392953.3	+	8	1527	c.1008C>A	c.(1006-1008)atC>atA	p.I336I	ARHGEF4_ENST00000409303.1_Intron|ARHGEF4_ENST00000428230.2_Intron|ARHGEF4_ENST00000439368.2_3'UTR|ARHGEF4_ENST00000355771.3_Silent_p.I265I|ARHGEF4_ENST00000525839.1_Silent_p.I336I|ARHGEF4_ENST00000326016.5_Silent_p.I336I	NM_032995.1	NP_127462.1	Q9NR80	ARHG4_HUMAN	Rho guanine nucleotide exchange factor (GEF) 4	336	DH.				apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|lamellipodium assembly|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|ruffle membrane	protein domain specific binding|Rac guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(4)	29		Prostate(154;0.055)		BRCA - Breast invasive adenocarcinoma(221;0.097)		TCGAGGACATCTACCGCTGCC	0.642													12	25					0.0931896	0.0953075	1	1	0	A	131797917	C	A	131797917	2	1	42	1	0	0	0	0	0	0	0	1	905	903	32	4		4	ARHGEF4	2	131797917	Silent	SNP	C	TCGA-DB-A64P-01A-11D-A29Q-08	63189995	131797917	111401456	6	1835											
NEB	4703	broad.mit.edu	37	2	152497171	152497171	+	Missense_Mutation	SNP	T	T	C			TCGA-DB-A64P-01A-11D-A29Q-08	TCGA-DB-A64P-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5864a37b-dfec-475c-95f4-2426c8e2772c	0bb265d4-0ce6-4374-890c-3f9e096dab5e	g.chr2:152497171T>C	ENST00000397345.3	-	61	8585	c.8383A>G	c.(8383-8385)Aaa>Gaa	p.K2795E	NEB_ENST00000409198.1_Missense_Mutation_p.K2795E|NEB_ENST00000172853.10_Missense_Mutation_p.K2795E|NEB_ENST00000604864.1_Missense_Mutation_p.K2795E|NEB_ENST00000427231.2_Missense_Mutation_p.K2795E|NEB_ENST00000603639.1_Missense_Mutation_p.K2795E	NM_001164508.1	NP_001157980	P20929	NEBU_HUMAN	nebulin	2795					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TAGCCTTCTTTGTACTTGAAC	0.403													73	83					0	0	1	0	0	C	152497171	T	C	152497171	3	2	42	1	0	0	0	0	1	0	0	0	10349	1821	63	3	17791	3	NEB	2	152497171	Missense_Mutation	SNP	T	TCGA-DB-A64P-01A-11D-A29Q-08	20699254	152497171	90702202	7	1836											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-DB-A64P-01A-11D-A29Q-08	TCGA-DB-A64P-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5864a37b-dfec-475c-95f4-2426c8e2772c	0bb265d4-0ce6-4374-890c-3f9e096dab5e	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								29	26					0	0	1	0	0	T	209113112	C	T	209113112	3	4	42	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-DB-A64P-01A-11D-A29Q-08	56615941	209113112	34086261	8	1837											
IRS1	3667	broad.mit.edu	37	2	227662776	227662776	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A64P-01A-11D-A29Q-08	TCGA-DB-A64P-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5864a37b-dfec-475c-95f4-2426c8e2772c	0bb265d4-0ce6-4374-890c-3f9e096dab5e	g.chr2:227662776G>A	ENST00000305123.5	-	1	1699	c.679C>T	c.(679-681)Cgt>Tgt	p.R227C		NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1		IRS-type PTB.				fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		ACGGCAGAACGGCCCACCTCG	0.617											OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	135					0	0	1	0	0	A	227662776	G	A	227662776	3	1	42	1	0	0	0	0	1	0	0	0	7884	1116	39	1	3053	1	IRS1	2	227662776	Missense_Mutation	SNP	G	TCGA-DB-A64P-01A-11D-A29Q-08	18549664	227662776	15536597	9	1838											
FBXW12	285231	broad.mit.edu	37	3	48420003	48420003	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A64P-01A-11D-A29Q-08	TCGA-DB-A64P-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5864a37b-dfec-475c-95f4-2426c8e2772c	0bb265d4-0ce6-4374-890c-3f9e096dab5e	g.chr3:48420003G>A	ENST00000296438.5	+	6	788	c.602G>A	c.(601-603)gGc>gAc	p.G201D	FBXW12_ENST00000415155.1_Intron|FBXW12_ENST00000445170.1_Missense_Mutation_p.G182D|FBXW12_ENST00000436231.1_Missense_Mutation_p.G44D	NM_207102.2	NP_996985.2	Q6X9E4	FBW12_HUMAN	F-box and WD repeat domain containing 12	201										breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		ACAAAGGATGGCCCATTCCTG	0.483													3	23					0	0	1	0	0	A	48420003	G	A	48420003	3	1	42	1	0	0	0	0	1	0	0	0	5798	1203	42	2	657	2	FBXW12	3	48420003	Missense_Mutation	SNP	G	TCGA-DB-A64P-01A-11D-A29Q-08		48420003	149602427	10	1839											
TLR9	54106	broad.mit.edu	37	3	52257400	52257400	+	Missense_Mutation	SNP	C	C	T	rs141692865	byFrequency	TCGA-DB-A64P-01A-11D-A29Q-08	TCGA-DB-A64P-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5864a37b-dfec-475c-95f4-2426c8e2772c	0bb265d4-0ce6-4374-890c-3f9e096dab5e	g.chr3:52257400C>T	ENST00000597542.1	-	9	1961	c.1004G>A	c.(1003-1005)cGa>cAa	p.R335Q	TLR9_ENST00000494383.1_Silent_p.P464P|TLR9_ENST00000360658.2_Missense_Mutation_p.R311Q			Q9NR96	TLR9_HUMAN	toll-like receptor 9	311					defense response to bacterium|fibroblast growth factor receptor signaling pathway|I-kappaB phosphorylation|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin	apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome	interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity			endometrium(4)|large_intestine(11)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Chloroquine(DB00608)	GTCCAGCACTCGGAGGTTTCC	0.532													22	79					0	0	1	0	0	T	52257400	C	T	52257400	3	4	42	1	0	0	0	0	1	0	0	0	16018	884	31	1	2170	1	TLR9	3	52257400	Missense_Mutation	SNP	C	TCGA-DB-A64P-01A-11D-A29Q-08	3837397	52257400	145765030	11	1840											
CXCL13	10563	broad.mit.edu	37	4	78528958	78528958	+	Missense_Mutation	SNP	C	C	T	rs150188610	by1000genomes	TCGA-DB-A64P-01A-11D-A29Q-08	TCGA-DB-A64P-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5864a37b-dfec-475c-95f4-2426c8e2772c	0bb265d4-0ce6-4374-890c-3f9e096dab5e	g.chr4:78528958C>T	ENST00000286758.4	+	3	244	c.166C>T	c.(166-168)Cgt>Tgt	p.R56C		NM_006419.2	NP_006410.1	O43927	CXL13_HUMAN	chemokine (C-X-C motif) ligand 13	56					activation of Rap GTPase activity|B cell chemotaxis|cell-cell signaling|chronic inflammatory response|defense response to bacterium|elevation of cytosolic calcium ion concentration|endothelial cell chemotaxis to fibroblast growth factor|germinal center formation|lymphocyte chemotaxis across high endothelial venule|negative regulation of apoptosis|positive regulation of cell-cell adhesion mediated by integrin|positive regulation of integrin activation|positive regulation of T cell chemotaxis|regulation of angiogenesis|regulation of humoral immune response	extracellular space|soluble fraction	CCR10 chemokine receptor binding|chemokine activity|CXCR3 chemokine receptor binding|CXCR5 chemokine receptor binding|fibroblast growth factor 2 binding|heparin binding|protein heterodimerization activity|receptor agonist activity			large_intestine(1)|ovary(1)|skin(1)|urinary_tract(1)	4						AATCTTGCCCCGTGGGAATGG	0.383													13	58					0	0	1	0	0	T	78528958	C	T	78528958	3	4	42	1	0	0	0	0	1	0	0	0	4104	652	23	1	172	1	CXCL13	4	78528958	Missense_Mutation	SNP	C	TCGA-DB-A64P-01A-11D-A29Q-08		78528958	112625318	12	1841											
KIAA1109	84162	broad.mit.edu	37	4	123166209	123166209	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DB-A64P-01A-11D-A29Q-08	TCGA-DB-A64P-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5864a37b-dfec-475c-95f4-2426c8e2772c	0bb265d4-0ce6-4374-890c-3f9e096dab5e	g.chr4:123166209C>T	ENST00000264501.4	+	32	5324	c.4951C>T	c.(4951-4953)Cga>Tga	p.R1651*	KIAA1109_ENST00000388738.3_Nonsense_Mutation_p.R1651*|KIAA1109_ENST00000455637.1_Nonsense_Mutation_p.R1651*			Q2LD37	K1109_HUMAN	KIAA1109	1651					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						TGCTAGTACCCGACATCCAGC	0.343													20	57					0	0	1	0	0	T	123166209	C	T	123166209	4	4	42	1	0	0	0	0	0	1	0	0	8250	644	23	1	5069	1	KIAA1109	4	123166209	Nonsense_Mutation	SNP	C	TCGA-DB-A64P-01A-11D-A29Q-08	44637251	123166209	67988067	13	1842											
WNT8A	7478	broad.mit.edu	37	5	137424684	137424685	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-DB-A64P-01A-11D-A29Q-08	TCGA-DB-A64P-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5864a37b-dfec-475c-95f4-2426c8e2772c	0bb265d4-0ce6-4374-890c-3f9e096dab5e	g.chr5:137424684_137424685delTT	ENST00000506684.1	+	4	726_727	c.490_491delTT	c.(490-492)tttfs	p.F164fs	WNT8A_ENST00000398754.1_Frame_Shift_Del_p.F146fs			Q9H1J5	WNT8A_HUMAN	wingless-type MMTV integration site family, member 8A	146					brain segmentation|canonical Wnt receptor signaling pathway involved in neural crest cell differentiation|cell migration involved in gastrulation|dorsal/ventral pattern formation|ectoderm development|endoderm development|eye development|hindbrain development|mesodermal cell fate commitment|negative regulation of Wnt receptor signaling pathway|neural crest cell fate commitment|neural plate pattern specification|notochord development|palate development|polarity specification of anterior/posterior axis|polarity specification of proximal/distal axis|positive regulation of fibroblast growth factor receptor signaling pathway|regulation of transcription involved in anterior/posterior axis specification|response to retinoic acid|somitogenesis|spinal cord anterior/posterior patterning|tail morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled binding|signal transducer activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(2)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			CTCCAAACTCTTTGTGGACAGT	0.51													19	175	---	---	---	---						-	137424685	TT	-	137424684	7	5	42	1	0	1	0	1	0	0	0	0	17456	1609	56	0	454	0	WNT8A	5	137424684	Frame_Shift_Del	DEL	TT	TCGA-DB-A64P-01A-11D-A29Q-08		137424684	43490576	14	1843											
PCDHA5	56143	broad.mit.edu	37	5	140201485	140201485	+	Missense_Mutation	SNP	C	C	A			TCGA-DB-A64P-01A-11D-A29Q-08	TCGA-DB-A64P-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5864a37b-dfec-475c-95f4-2426c8e2772c	0bb265d4-0ce6-4374-890c-3f9e096dab5e	g.chr5:140201485C>A	ENST00000529859.1	+	1	125	c.125C>A	c.(124-126)aCc>aAc	p.T42N	PCDHA5_ENST00000378126.3_Missense_Mutation_p.T42N|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Missense_Mutation_p.T42N|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron	NM_018908.2	NP_061731.1														NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAACACGGAACCTTCGTTGGC	0.677													24	101					1.22574e-08	1.31329e-08	1	1	0	A	140201485	C	A	140201485	3	1	42	1	0	0	0	0	1	0	0	0	11574	507	18	5	127	5	PCDHA5	5	140201485	Missense_Mutation	SNP	C	TCGA-DB-A64P-01A-11D-A29Q-08	2776801	140201485	40713775	15	1844											
FAT2	2196	broad.mit.edu	37	5	150946296	150946296	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A64P-01A-11D-A29Q-08	TCGA-DB-A64P-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5864a37b-dfec-475c-95f4-2426c8e2772c	0bb265d4-0ce6-4374-890c-3f9e096dab5e	g.chr5:150946296G>A	ENST00000261800.5	-	1	2209	c.2197C>T	c.(2197-2199)Ccc>Tcc	p.P733S		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	733	Cadherin 6.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CGGGCCAAGGGGGTGTTGATA	0.483													62	84					0	0	1	0	0	A	150946296	G	A	150946296	3	1	42	1	0	0	0	0	1	0	0	0	5723	1232	43	2	10944	2	FAT2	5	150946296	Missense_Mutation	SNP	G	TCGA-DB-A64P-01A-11D-A29Q-08	10744811	150946296	29968964	16	1845											
STEAP1	26872	broad.mit.edu	37	7	89790617	89790617	+	Missense_Mutation	SNP	T	T	A			TCGA-DB-A64P-01A-11D-A29Q-08	TCGA-DB-A64P-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5864a37b-dfec-475c-95f4-2426c8e2772c	0bb265d4-0ce6-4374-890c-3f9e096dab5e	g.chr7:89790617T>A	ENST00000297205.2	+	3	783	c.583T>A	c.(583-585)Tgg>Agg	p.W195R	STEAP2-AS1_ENST00000478318.2_RNA	NM_012449.2	NP_036581.1	Q9UHE8	STEA1_HUMAN	six transmembrane epithelial antigen of the prostate 1	195	Ferric oxidoreductase.				electron transport chain|ion transport|iron ion homeostasis	cell-cell junction|endosome membrane|integral to plasma membrane	channel activity|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity			kidney(2)|large_intestine(3)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	14	all_hematologic(106;0.112)					GTTGCTAAACTGGGCATATCA	0.363													5	34					0	0	1	0	0	A	89790617	T	A	89790617	3	1	42	1	0	0	0	0	1	0	0	0	15333	1580	55	5	589	5	STEAP1	7	89790617	Missense_Mutation	SNP	T	TCGA-DB-A64P-01A-11D-A29Q-08		89790617	69348046	17	1846											
KLF14	136259	broad.mit.edu	37	7	130418098	130418098	+	Missense_Mutation	SNP	A	A	C			TCGA-DB-A64P-01A-11D-A29Q-08	TCGA-DB-A64P-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5864a37b-dfec-475c-95f4-2426c8e2772c	0bb265d4-0ce6-4374-890c-3f9e096dab5e	g.chr7:130418098A>C	ENST00000310992.4	-	1	790	c.763T>G	c.(763-765)Ttc>Gtc	p.F255V		NM_138693.2	NP_619638.2	Q8TD94	KLF14_HUMAN	Kruppel-like factor 14	255					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(3)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6	Melanoma(18;0.0435)					GGGCAGGAGAAGCGCTTCTCG	0.622													8	17					0	0	1	0	0	C	130418098	A	C	130418098	3	2	42	1	0	0	0	0	1	0	0	0	8385	72	3	5	212	5	KLF14	7	130418098	Missense_Mutation	SNP	A	TCGA-DB-A64P-01A-11D-A29Q-08	40627481	130418098	28720565	18	1847											
ZNF33B	7582	broad.mit.edu	37	10	43089024	43089024	+	Silent	SNP	T	T	C	rs140001885		TCGA-DB-A64P-01A-11D-A29Q-08	TCGA-DB-A64P-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5864a37b-dfec-475c-95f4-2426c8e2772c	0bb265d4-0ce6-4374-890c-3f9e096dab5e	g.chr10:43089024T>C	ENST00000359467.3	-	5	1488	c.1374A>G	c.(1372-1374)gtA>gtG	p.V458V	ZNF33B_ENST00000486187.1_RNA	NM_006955.1	NP_008886.1	Q06732	ZN33B_HUMAN	zinc finger protein 33B	458						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(15)|skin(1)|stomach(1)	29						TTCTCTGGTGTACTGTAAGGT	0.403													3	66					0	0	1	0	0	C	43089024	T	C	43089024	2	2	42	1	0	0	0	0	0	0	0	1	17912	1625	57	3		3	ZNF33B	10	43089024	Silent	SNP	T	TCGA-DB-A64P-01A-11D-A29Q-08		43089024	92445723	19	1848											
SYT7	9066	broad.mit.edu	37	11	61295549	61295549	+	Missense_Mutation	SNP	C	C	T	rs382505		TCGA-DB-A64P-01A-11D-A29Q-08	TCGA-DB-A64P-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5864a37b-dfec-475c-95f4-2426c8e2772c	0bb265d4-0ce6-4374-890c-3f9e096dab5e	g.chr11:61295549C>T	ENST00000263846.4	-	5	787	c.460G>A	c.(460-462)Gtg>Atg	p.V154M	SYT7_ENST00000540677.1_Missense_Mutation_p.V229M|SYT7_ENST00000539008.1_Missense_Mutation_p.V437M|SYT7_ENST00000540831.1_5'UTR|SYT7_ENST00000542836.1_Missense_Mutation_p.V198M|SYT7_ENST00000535826.1_Missense_Mutation_p.V273M|SYT7_ENST00000542670.1_Missense_Mutation_p.V362M	NM_004200.3	NP_004191.2	O43581	SYT7_HUMAN	synaptotagmin VII	154	C2 1.			V -> L (in Ref. 1; AAB92667).		cell junction|integral to membrane|synaptic vesicle membrane	transporter activity			kidney(2)|large_intestine(3)|lung(4)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						ATGATCTTCACGGTGAGCGTG	0.612													23	116					0	0	1	0	0	T	61295549	C	T	61295549	3	4	42	1	0	0	0	0	1	0	0	0	15536	536	19	1	771	1	SYT7	11	61295549	Missense_Mutation	SNP	C	TCGA-DB-A64P-01A-11D-A29Q-08		61295549	73710967	20	1849											
RAD52	5893	broad.mit.edu	37	12	1023182	1023182	+	Nonsense_Mutation	SNP	A	A	T			TCGA-DB-A64P-01A-11D-A29Q-08	TCGA-DB-A64P-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5864a37b-dfec-475c-95f4-2426c8e2772c	0bb265d4-0ce6-4374-890c-3f9e096dab5e	g.chr12:1023182A>T	ENST00000358495.3	-	11	1211	c.1073T>A	c.(1072-1074)tTa>tAa	p.L358*	RAD52_ENST00000535376.1_5'UTR|RAD52_ENST00000430095.2_Nonsense_Mutation_p.L358*|RAD52_ENST00000539046.1_Nonsense_Mutation_p.L281*	NM_134424.2	NP_602296.2	P43351	RAD52_HUMAN	RAD52 homolog (S. cerevisiae)	358					DNA recombinase assembly|mitotic recombination|reciprocal meiotic recombination	nucleoplasm	DNA binding|protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	all_cancers(10;0.0119)|all_epithelial(11;0.0171)|all_lung(10;0.0521)|Ovarian(42;0.0816)|Lung NSC(10;0.0987)		OV - Ovarian serous cystadenocarcinoma(31;0.00123)|BRCA - Breast invasive adenocarcinoma(9;0.0323)			GTTCAAGGCTAATGTGTCAGA	0.522								Homologous recombination					15	100					0	0	1	0	0	T	1023182	A	T	1023182	4	4	42	1	0	0	0	0	0	1	0	0	13043	372	13	5	191	5	RAD52	12	1023182	Nonsense_Mutation	SNP	A	TCGA-DB-A64P-01A-11D-A29Q-08		1023182	132828713	21	1850											
TMEM132B	114795	broad.mit.edu	37	12	125900205	125900205	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A64P-01A-11D-A29Q-08	TCGA-DB-A64P-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5864a37b-dfec-475c-95f4-2426c8e2772c	0bb265d4-0ce6-4374-890c-3f9e096dab5e	g.chr12:125900205G>A	ENST00000299308.3	+	3	1081	c.1073G>A	c.(1072-1074)cGc>cAc	p.R358H		NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	358						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		ATGGGCCATCGCCCGGACACG	0.592													16	69					0	0	1	0	0	A	125900205	G	A	125900205	3	1	42	1	0	0	0	0	1	0	0	0	16106	1087	38	1	1083	1	TMEM132B	12	125900205	Missense_Mutation	SNP	G	TCGA-DB-A64P-01A-11D-A29Q-08	124877023	125900205	7951690	22	1851											
PARP16	54956	broad.mit.edu	37	15	65551839	65551839	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A64P-01A-11D-A29Q-08	TCGA-DB-A64P-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5864a37b-dfec-475c-95f4-2426c8e2772c	0bb265d4-0ce6-4374-890c-3f9e096dab5e	g.chr15:65551839G>A	ENST00000261888.6	-	6	1323	c.878C>T	c.(877-879)aCc>aTc	p.T293I	PARP16_ENST00000444347.2_Missense_Mutation_p.T177I	NM_017851.4	NP_060321.3	Q8N5Y8	PAR16_HUMAN	poly (ADP-ribose) polymerase family, member 16	292						integral to membrane	NAD+ ADP-ribosyltransferase activity			kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)	9						TATCATGACGGTAAACCAATG	0.428													4	161					0	0	1	0	0	A	65551839	G	A	65551839	3	1	42	1	0	0	0	0	1	0	0	0	11507	1261	44	2	97	2	PARP16	15	65551839	Missense_Mutation	SNP	G	TCGA-DB-A64P-01A-11D-A29Q-08		65551839	36979553	23	1852											
CASKIN1	57524	broad.mit.edu	37	16	2246363	2246364	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-DB-A64P-01A-11D-A29Q-08	TCGA-DB-A64P-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5864a37b-dfec-475c-95f4-2426c8e2772c	0bb265d4-0ce6-4374-890c-3f9e096dab5e	g.chr16:2246363_2246364delTG	ENST00000343516.6	-	1	162_163	c.70_71delCA	c.(70-72)cagfs	p.Q24fs		NM_020764.3	NP_065815.1	Q8WXD9	CSKI1_HUMAN	CASK interacting protein 1	24					signal transduction	cytoplasm				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|liver(1)|lung(7)|ovary(4)|prostate(5)|skin(3)	28						CCGCGGCCTCTGCAGCAGCCTC	0.812													2	4	---	---	---	---						-	2246364	TG	-	2246363	7	5	42	1	0	1	0	1	0	0	0	0	2684	1580	55	0	4304	0	CASKIN1	16	2246363	Frame_Shift_Del	DEL	TG	TCGA-DB-A64P-01A-11D-A29Q-08		2246363	88108390	24	1853											
ITGAX	3687	broad.mit.edu	37	16	31374553	31374553	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A64P-01A-11D-A29Q-08	TCGA-DB-A64P-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5864a37b-dfec-475c-95f4-2426c8e2772c	0bb265d4-0ce6-4374-890c-3f9e096dab5e	g.chr16:31374553C>T	ENST00000268296.4	+	14	1689	c.1568C>T	c.(1567-1569)gCg>gTg	p.A523V	ITGAX_ENST00000562522.1_Missense_Mutation_p.A523V	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	523					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						CGCTTTGGGGCGGCTCTGACA	0.617													43	208					0	0	1	0	0	T	31374553	C	T	31374553	3	4	42	1	0	0	0	0	1	0	0	0	7933	768	27	1	1622	1	ITGAX	16	31374553	Missense_Mutation	SNP	C	TCGA-DB-A64P-01A-11D-A29Q-08	29128190	31374553	58980200	25	1854											
THRA	7067	broad.mit.edu	37	17	38240101	38240101	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A64P-01A-11D-A29Q-08	TCGA-DB-A64P-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5864a37b-dfec-475c-95f4-2426c8e2772c	0bb265d4-0ce6-4374-890c-3f9e096dab5e	g.chr17:38240101G>A	ENST00000450525.2	+	5	727	c.236G>A	c.(235-237)cGc>cAc	p.R79H	THRA_ENST00000264637.4_Missense_Mutation_p.R79H|THRA_ENST00000546243.1_Missense_Mutation_p.R79H|THRA_ENST00000584985.1_Missense_Mutation_p.R79H|THRA_ENST00000394121.4_Missense_Mutation_p.R79H	NM_199334.3	NP_955366.1	P10827	THA_HUMAN	thyroid hormone receptor, alpha	79					negative regulation of RNA polymerase II transcriptional preinitiation complex assembly|negative regulation of transcription initiation, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription from RNA polymerase II promoter	cytosol|nucleoplasm	protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|TBP-class protein binding|thyroid hormone binding|thyroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding	p.R79H(2)		endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1)	11	Colorectal(19;0.000442)	Myeloproliferative disorder(1115;0.0255)			Levothyroxine(DB00451)|Liothyronine(DB00279)	TTCTTTCGCCGCACAATCCAG	0.547													4	128					0	0	1	0	0	A	38240101	G	A	38240101	3	1	42	1	0	0	0	0	1	0	0	0	15933	1087	38	1	250	1	THRA	17	38240101	Missense_Mutation	SNP	G	TCGA-DB-A64P-01A-11D-A29Q-08		38240101	42955109	26	1855											
JUP	3728	broad.mit.edu	37	17	39914694	39914694	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A64P-01A-11D-A29Q-08	TCGA-DB-A64P-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5864a37b-dfec-475c-95f4-2426c8e2772c	0bb265d4-0ce6-4374-890c-3f9e096dab5e	g.chr17:39914694C>T	ENST00000393931.3	-	10	1848	c.1730G>A	c.(1729-1731)cGc>cAc	p.R577H	JUP_ENST00000540235.1_Intron|JUP_ENST00000310706.5_Missense_Mutation_p.R577H|JUP_ENST00000393930.1_Missense_Mutation_p.R577H	NM_002230.2	NP_002221.1	P14923	PLAK_HUMAN	junction plakoglobin	577					adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway involved in heart development|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development	actin cytoskeleton|Axin-APC-beta-catenin-GSK3B complex|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|Z disc|zonula adherens	alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|RPTP-like protein binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	23		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)		GATCTCCATGCGGTTCATGGG	0.622													35	61					0	0	1	0	0	T	39914694	C	T	39914694	3	4	42	1	0	0	0	0	1	0	0	0	8016	768	27	1	527	1	JUP	17	39914694	Missense_Mutation	SNP	C	TCGA-DB-A64P-01A-11D-A29Q-08	1674593	39914694	41280516	27	1856											
LRRC37A2	474170	broad.mit.edu	37	17	44630803	44630812	+	Frame_Shift_Del	DEL	AAGGATTCTC	AAGGATTCTC	-			TCGA-DB-A64P-01A-11D-A29Q-08	TCGA-DB-A64P-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5864a37b-dfec-475c-95f4-2426c8e2772c	0bb265d4-0ce6-4374-890c-3f9e096dab5e	g.chr17:44630803_44630812delAAGGATTCTC	ENST00000576629.1	+	12	5342_5351	c.4847_4856delAAGGATTCTC	c.(4846-4857)gaaggattctcafs	p.EGFS1616fs	ARL17A_ENST00000337845.7_Intron|ARL17A_ENST00000329240.4_Intron|ARL17A_ENST00000570550.1_Intron|ARL17A_ENST00000573185.1_Intron|ARL17A_ENST00000445552.2_Intron|LRRC37A2_ENST00000333412.3_Frame_Shift_Del_p.EGFS1616fs			A6NM11	L37A2_HUMAN	leucine rich repeat containing 37, member A2	1616						integral to membrane				endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|pancreas(4)|prostate(2)	15		Melanoma(429;0.211)		BRCA - Breast invasive adenocarcinoma(366;0.232)		GAAGATGAAGAAGGATTCTCAAGGTAAATA	0.395													22	76	---	---	---	---						-	44630812	AAGGATTCTC	-	44630803	7	5	42	1	0	1	0	1	0	0	0	0	9037	246	9	0	4889	0	LRRC37A2	17	44630803	Frame_Shift_Del	DEL	AAGGATTCTC	TCGA-DB-A64P-01A-11D-A29Q-08	4716109	44630803	36564407	28	1857											
MUC16	94025	broad.mit.edu	37	19	9082770	9082770	+	Silent	SNP	A	A	G			TCGA-DB-A64P-01A-11D-A29Q-08	TCGA-DB-A64P-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5864a37b-dfec-475c-95f4-2426c8e2772c	0bb265d4-0ce6-4374-890c-3f9e096dab5e	g.chr19:9082770A>G	ENST00000397910.4	-	1	9248	c.9045T>C	c.(9043-9045)acT>acC	p.T3015T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3016	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGCTGAAGAGAGTTGTGAGTT	0.493													24	92					0	0	1	0	0	G	9082770	A	G	9082770	2	3	42	1	0	0	0	0	0	0	0	1	10021	291	11	3		3	MUC16	19	9082770	Silent	SNP	A	TCGA-DB-A64P-01A-11D-A29Q-08		9082770	50046213	29	1858											
ZNF266	10781	broad.mit.edu	37	19	9526349	9526349	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A64P-01A-11D-A29Q-08	TCGA-DB-A64P-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5864a37b-dfec-475c-95f4-2426c8e2772c	0bb265d4-0ce6-4374-890c-3f9e096dab5e	g.chr19:9526349G>A	ENST00000592904.1	-	4	2261	c.185C>T	c.(184-186)aCc>aTc	p.T62I	ZNF266_ENST00000588221.1_Missense_Mutation_p.T62I|ZNF266_ENST00000361451.2_Missense_Mutation_p.T62I|ZNF266_ENST00000590306.1_Missense_Mutation_p.T62I|ZNF266_ENST00000592292.1_Missense_Mutation_p.T62I|ZNF266_ENST00000361151.1_Missense_Mutation_p.T62I|ZNF266_ENST00000588933.1_Missense_Mutation_p.T62I			Q14584	ZN266_HUMAN	zinc finger protein 266	62					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(2)|large_intestine(11)|lung(8)|ovary(1)|skin(2)|stomach(1)	28						CCCACTGGAGGTTGGCTCCCC	0.388													6	44					0	0	1	0	0	A	9526349	G	A	9526349	3	1	42	1	0	0	0	0	1	0	0	0	17863	1261	44	2	1472	2	ZNF266	19	9526349	Missense_Mutation	SNP	G	TCGA-DB-A64P-01A-11D-A29Q-08	443579	9526349	49602634	30	1859											
CIC	23152	broad.mit.edu	37	19	42791719	42791719	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A64P-01A-11D-A29Q-08	TCGA-DB-A64P-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5864a37b-dfec-475c-95f4-2426c8e2772c	0bb265d4-0ce6-4374-890c-3f9e096dab5e	g.chr19:42791719G>A	ENST00000572681.2	+	6	3400	c.3332G>A	c.(3331-3333)cGg>cAg	p.R1111Q	CIC_ENST00000575354.2_Missense_Mutation_p.R202Q|CIC_ENST00000160740.3_Missense_Mutation_p.R202Q			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	202	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CACATCCGGCGGCCCATGAAT	0.627			"Mis, F, S"		oligodendroglioma								27	63					0	0	1	0	0	A	42791719	G	A	42791719	3	1	42	1	0	0	0	0	1	0	0	0	3446	1116	39	1	623	1	CIC	19	42791719	Missense_Mutation	SNP	G	TCGA-DB-A64P-01A-11D-A29Q-08	33265370	42791719	16337264	31	1860											
TPTE	7179	broad.mit.edu	37	21	10941933	10941933	+	Missense_Mutation	SNP	T	T	C			TCGA-DB-A64P-01A-11D-A29Q-08	TCGA-DB-A64P-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5864a37b-dfec-475c-95f4-2426c8e2772c	0bb265d4-0ce6-4374-890c-3f9e096dab5e	g.chr21:10941933T>C	ENST00000298232.7	-	13	1083	c.716A>G	c.(715-717)cAg>cGg	p.Q239R	TPTE_ENST00000361285.4_Missense_Mutation_p.Q257R|TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000342420.5_Missense_Mutation_p.Q219R	NM_199259.2	NP_954868	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	257	Phosphatase tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			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)		ATAGAAAGACTGCCTTCCAGA	0.308													28	108					0	0	1	0	0	C	10941933	T	C	10941933	3	2	42	1	0	0	0	0	1	0	0	0	16491	1580	55	3	929	3	TPTE	21	10941933	Missense_Mutation	SNP	T	TCGA-DB-A64P-01A-11D-A29Q-08		10941933	37187962	32	1861											
ARSE	415	broad.mit.edu	37	X	2853194	2853194	+	Silent	SNP	C	C	A			TCGA-DB-A64P-01A-11D-A29Q-08	TCGA-DB-A64P-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5864a37b-dfec-475c-95f4-2426c8e2772c	0bb265d4-0ce6-4374-890c-3f9e096dab5e	g.chrX:2853194C>A	ENST00000545496.1	-	12	1815	c.1524G>T	c.(1522-1524)gtG>gtT	p.V508V	ARSE_ENST00000540563.1_Silent_p.V438V|ARSE_ENST00000381134.3_Silent_p.V483V	NM_001282628.1	NP_001269557.1	P51690	ARSE_HUMAN	arylsulfatase E (chondrodysplasia punctata 1)	483					skeletal system development	Golgi stack	arylsulfatase activity|metal ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CTGGCTGGAACACAGGCGTCA	0.507													3	20					0.115264	0.115264	1	1	0	A	2853194	C	A	2853194	2	1	42	1	0	0	0	0	0	0	0	1	989	465	17	5		5	ARSE	23	2853194	Silent	SNP	C	TCGA-DB-A64P-01A-11D-A29Q-08		2853194	152417366	33	1862											
FUBP1	8880	broad.mit.edu	37	1	78429937	78429937	+	Splice_Site	SNP	A	A	C			TCGA-DB-A64Q-01A-11D-A29Q-08	TCGA-DB-A64Q-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb1dc195-0b41-4ff7-8364-7fdcb4a96521	62bd6123-d070-4bde-af89-8177daee0949	g.chr1:78429937A>C	ENST00000370767.1	-	11	1028		c.e11+1		FUBP1_ENST00000436586.2_Splice_Site|FUBP1_ENST00000370768.2_Splice_Site			Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1						transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						ATATGTACTCACCTGGCTTAA	0.333			"F, N"		oligodendroglioma								18	13					0	0	1	0	0	C	78429937	A	C	78429937	5	2	43	1	0	0	0	0	0	0	1	0	6127	173	6	5	1032	5	FUBP1	1	78429937	Splice_Site	SNP	A	TCGA-DB-A64Q-01A-11D-A29Q-08		78429937	170820684	1	1863											
DCAF6	55827	broad.mit.edu	37	1	167956741	167956741	+	Silent	SNP	T	T	C			TCGA-DB-A64Q-01A-11D-A29Q-08	TCGA-DB-A64Q-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb1dc195-0b41-4ff7-8364-7fdcb4a96521	62bd6123-d070-4bde-af89-8177daee0949	g.chr1:167956741T>C	ENST00000367840.3	+	5	541	c.447T>C	c.(445-447)acT>acC	p.T149T	DCAF6_ENST00000432587.2_Silent_p.T118T|DCAF6_ENST00000470919.1_3'UTR|DCAF6_ENST00000367843.3_Silent_p.T149T|DCAF6_ENST00000312263.6_Silent_p.T149T	NM_001198956.1	NP_001185885.1	Q58WW2	DCAF6_HUMAN	DDB1 and CUL4 associated factor 6	149					positive regulation of transcription from RNA polymerase II promoter	CUL4 RING ubiquitin ligase complex|nucleus	ligand-dependent nuclear receptor transcription coactivator activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	36						AGATTATGACTGTACCCAATG	0.358													7	36					0	0	1	0	0	C	167956741	T	C	167956741	2	2	43	1	0	0	0	0	0	0	0	1	4298	1567	55	3		3	DCAF6	1	167956741	Silent	SNP	T	TCGA-DB-A64Q-01A-11D-A29Q-08	89526804	167956741	81293880	2	1864											
TLR5	7100	broad.mit.edu	37	1	223285526	223285526	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A64Q-01A-11D-A29Q-08	TCGA-DB-A64Q-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb1dc195-0b41-4ff7-8364-7fdcb4a96521	62bd6123-d070-4bde-af89-8177daee0949	g.chr1:223285526G>A	ENST00000540964.1	-	4	1309	c.848C>T	c.(847-849)gCt>gTt	p.A283V	TLR5_ENST00000342210.6_Missense_Mutation_p.A283V			O60602	TLR5_HUMAN	toll-like receptor 5	283					cellular response to mechanical stimulus|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway	integral to membrane|plasma membrane	interleukin-1 receptor binding|transmembrane receptor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(131;0.0851)		GGCCAGGCCAGCAAATGTGTT	0.483													4	93					0	0	1	0	0	A	223285526	G	A	223285526	3	1	43	1	0	0	0	0	1	0	0	0	16014	971	34	2	1732	2	TLR5	1	223285526	Missense_Mutation	SNP	G	TCGA-DB-A64Q-01A-11D-A29Q-08	55328785	223285526	25965095	3	1865											
KIDINS220	57498	broad.mit.edu	37	2	8872066	8872066	+	Missense_Mutation	SNP	T	T	C			TCGA-DB-A64Q-01A-11D-A29Q-08	TCGA-DB-A64Q-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb1dc195-0b41-4ff7-8364-7fdcb4a96521	62bd6123-d070-4bde-af89-8177daee0949	g.chr2:8872066T>C	ENST00000256707.3	-	30	4281	c.4100A>G	c.(4099-4101)gAt>gGt	p.D1367G	KIDINS220_ENST00000427284.1_Missense_Mutation_p.D1348G|KIDINS220_ENST00000418530.1_Missense_Mutation_p.D1268G|KIDINS220_ENST00000473731.1_Missense_Mutation_p.D1348G	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	1367					activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					AATACTGGAATCCTGGGAATT	0.388													43	62					0	0	1	0	0	C	8872066	T	C	8872066	3	2	43	1	0	0	0	0	1	0	0	0	8313	1435	50	3	1219	3	KIDINS220	2	8872066	Missense_Mutation	SNP	T	TCGA-DB-A64Q-01A-11D-A29Q-08		8872066	234327307	4	1866											
COL3A1	1281	broad.mit.edu	37	2	189855755	189855755	+	Missense_Mutation	SNP	A	A	G			TCGA-DB-A64Q-01A-11D-A29Q-08	TCGA-DB-A64Q-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb1dc195-0b41-4ff7-8364-7fdcb4a96521	62bd6123-d070-4bde-af89-8177daee0949	g.chr2:189855755A>G	ENST00000304636.3	+	11	994	c.824A>G	c.(823-825)aAg>aGg	p.K275R	COL3A1_ENST00000317840.5_Missense_Mutation_p.K275R	NM_000090.3	NP_000081	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	275	Triple-helical region.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	AATGGAGAAAAGGGTGAAACA	0.284													4	142					0	0	1	0	0	G	189855755	A	G	189855755	3	3	43	1	0	0	0	0	1	0	0	0	3711	72	3	3	866	3	COL3A1	2	189855755	Missense_Mutation	SNP	A	TCGA-DB-A64Q-01A-11D-A29Q-08	180983689	189855755	53343618	5	1867											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-DB-A64Q-01A-11D-A29Q-08	TCGA-DB-A64Q-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb1dc195-0b41-4ff7-8364-7fdcb4a96521	62bd6123-d070-4bde-af89-8177daee0949	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								23	34					0	0	1	0	0	T	209113112	C	T	209113112	3	4	43	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-DB-A64Q-01A-11D-A29Q-08	19257357	209113112	34086261	6	1868											
POLQ	10721	broad.mit.edu	37	3	121186388	121186388	+	Silent	SNP	T	T	A			TCGA-DB-A64Q-01A-11D-A29Q-08	TCGA-DB-A64Q-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb1dc195-0b41-4ff7-8364-7fdcb4a96521	62bd6123-d070-4bde-af89-8177daee0949	g.chr3:121186388T>A	ENST00000264233.5	-	24	7073	c.6945A>T	c.(6943-6945)cgA>cgT	p.R2315R		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	2315					DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		CAAAGGCATGTCGCATGCTAA	0.443								DNA polymerases (catalytic subunits)					15	20					0	0	1	0	0	A	121186388	T	A	121186388	2	1	43	1	0	0	0	0	0	0	0	1	12256	1654	58	5		5	POLQ	3	121186388	Silent	SNP	T	TCGA-DB-A64Q-01A-11D-A29Q-08		121186388	76836042	7	1869											
XRN1	54464	broad.mit.edu	37	3	142136035	142136035	+	Silent	SNP	C	C	T			TCGA-DB-A64Q-01A-11D-A29Q-08	TCGA-DB-A64Q-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb1dc195-0b41-4ff7-8364-7fdcb4a96521	62bd6123-d070-4bde-af89-8177daee0949	g.chr3:142136035C>T	ENST00000264951.4	-	13	1500	c.1383G>A	c.(1381-1383)caG>caA	p.Q461Q	XRN1_ENST00000392981.2_Silent_p.Q461Q	NM_019001.3	NP_061874.3	Q8IZH2	XRN1_HUMAN	5'-3' exoribonuclease 1	461					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process	cytosol|Golgi apparatus|intermediate filament cytoskeleton|plasma membrane	5'-3' exonuclease activity|DNA binding|protein binding|RNA binding			NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	61						ACTGTATTGCCTGAACATAAC	0.348													26	46					0	0	1	0	0	T	142136035	C	T	142136035	2	4	43	1	0	0	0	0	0	0	0	1	17519	680	24	2		2	XRN1	3	142136035	Silent	SNP	C	TCGA-DB-A64Q-01A-11D-A29Q-08	20949647	142136035	55886395	8	1870											
PIK3CA	5290	broad.mit.edu	37	3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	rs104886003		TCGA-DB-A64Q-01A-11D-A29Q-08	TCGA-DB-A64Q-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb1dc195-0b41-4ff7-8364-7fdcb4a96521	62bd6123-d070-4bde-af89-8177daee0949	g.chr3:178936091G>A	ENST00000263967.3	+	10	1790	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	545	PI3K helical.		E -> A (in cancer).|E -> G (in KERSEB).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E545K(881)|p.E545Q(18)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TGAAATCACTGAGCAGGAGAA	0.353	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			8	23					0	0	1	0	0	A	178936091	G	A	178936091	3	1	43	1	0	0	0	0	1	0	0	0	11961	1291	45	2	1667	2	PIK3CA	3	178936091	Missense_Mutation	SNP	G	TCGA-DB-A64Q-01A-11D-A29Q-08	36800056	178936091	19086339	9	1871											
HSPA4L	22824	broad.mit.edu	37	4	128739562	128739562	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A64Q-01A-11D-A29Q-08	TCGA-DB-A64Q-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb1dc195-0b41-4ff7-8364-7fdcb4a96521	62bd6123-d070-4bde-af89-8177daee0949	g.chr4:128739562G>A	ENST00000296464.4	+	13	2072	c.1661G>A	c.(1660-1662)gGa>gAa	p.G554E	HSPA4L_ENST00000439123.2_Missense_Mutation_p.G585E|HSPA4L_ENST00000515262.1_3'UTR|HSPA4L_ENST00000505726.1_Missense_Mutation_p.G528E|HSPA4L_ENST00000508776.1_Missense_Mutation_p.G554E	NM_014278.2	NP_055093.2	O95757	HS74L_HUMAN	heat shock 70kDa protein 4-like						protein folding|response to unfolded protein	cytoplasm|nucleus	ATP binding|protein binding			central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						GATCATACAGGAGCCAAAACA	0.313													28	41					0	0	1	0	0	A	128739562	G	A	128739562	3	1	43	1	0	0	0	0	1	0	0	0	7456	1174	41	2	1711	2	HSPA4L	4	128739562	Missense_Mutation	SNP	G	TCGA-DB-A64Q-01A-11D-A29Q-08		128739562	62414714	10	1872											
TREML2	79865	broad.mit.edu	37	6	41165879	41165879	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A64Q-01A-11D-A29Q-08	TCGA-DB-A64Q-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb1dc195-0b41-4ff7-8364-7fdcb4a96521	62bd6123-d070-4bde-af89-8177daee0949	g.chr6:41165879G>A	ENST00000483722.1	-	2	529	c.344C>T	c.(343-345)cCc>cTc	p.P115L		NM_024807.2	NP_079083.2	Q5T2D2	TRML2_HUMAN	triggering receptor expressed on myeloid cells-like 2	115	Ig-like V-type.				T cell activation	cell surface|integral to membrane|plasma membrane	protein binding|receptor activity			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)	18	Ovarian(28;0.0418)|Colorectal(47;0.196)					GCCCATCAAGGGGTACAGGAT	0.612													6	51					0	0	1	0	0	A	41165879	G	A	41165879	3	1	43	1	0	0	0	0	1	0	0	0	16534	1232	43	2	637	2	TREML2	6	41165879	Missense_Mutation	SNP	G	TCGA-DB-A64Q-01A-11D-A29Q-08		41165879	129949188	11	1873											
FRS3	10817	broad.mit.edu	37	6	41738833	41738833	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DB-A64Q-01A-11D-A29Q-08	TCGA-DB-A64Q-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb1dc195-0b41-4ff7-8364-7fdcb4a96521	62bd6123-d070-4bde-af89-8177daee0949	g.chr6:41738833G>A	ENST00000373018.3	-	7	1254	c.1003C>T	c.(1003-1005)Caa>Taa	p.Q335*	FRS3_ENST00000259748.2_Nonsense_Mutation_p.Q335*	NM_006653.3	NP_006644.1	O43559	FRS3_HUMAN	fibroblast growth factor receptor substrate 3	335					fibroblast growth factor receptor signaling pathway	plasma membrane	fibroblast growth factor receptor binding|insulin receptor binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			TGCTGGGCTTGGCTTTCCCAC	0.662													4	86					0	0	1	0	0	A	41738833	G	A	41738833	4	1	43	1	0	0	0	0	0	1	0	0	6097	1357	47	2	479	2	FRS3	6	41738833	Nonsense_Mutation	SNP	G	TCGA-DB-A64Q-01A-11D-A29Q-08	572954	41738833	129376234	12	1874											
ENPP1	5167	broad.mit.edu	37	6	132198210	132198210	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A64Q-01A-11D-A29Q-08	TCGA-DB-A64Q-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb1dc195-0b41-4ff7-8364-7fdcb4a96521	62bd6123-d070-4bde-af89-8177daee0949	g.chr6:132198210C>T	ENST00000360971.2	+	18	1822	c.1802C>T	c.(1801-1803)aCg>aTg	p.T601M		NM_006208.2	NP_006199.2	P22413	ENPP1_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 1	601					3'-phosphoadenosine 5'-phosphosulfate metabolic process|biomineral tissue development|cellular phosphate ion homeostasis|cellular response to insulin stimulus|generation of precursor metabolites and energy|immune response|inorganic diphosphate transport|negative regulation of cell growth|negative regulation of fat cell differentiation|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of protein autophosphorylation|nucleoside triphosphate catabolic process|phosphate metabolic process|sequestering of triglyceride|water-soluble vitamin metabolic process	basolateral plasma membrane|cell surface|extracellular space|integral to membrane	ATP binding|insulin receptor binding|metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|protein homodimerization activity|scavenger receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(22)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	46	Breast(56;0.0505)			GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	Amifostine(DB01143)|Ribavirin(DB00811)	CCTGTTTATACGCCAAAGCAT	0.448													15	14					0	0	1	0	0	T	132198210	C	T	132198210	3	4	43	1	0	0	0	0	1	0	0	0	5157	536	19	1	1872	1	ENPP1	6	132198210	Missense_Mutation	SNP	C	TCGA-DB-A64Q-01A-11D-A29Q-08	90459377	132198210	38916857	13	1875											
MLLT3	4300	broad.mit.edu	37	9	20414126	20414126	+	Translation_Start_Site	SNP	T	T	C			TCGA-DB-A64Q-01A-11D-A29Q-08	TCGA-DB-A64Q-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb1dc195-0b41-4ff7-8364-7fdcb4a96521	62bd6123-d070-4bde-af89-8177daee0949	g.chr9:20414126T>C	ENST00000355930.6	-	0	976				MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Missense_Mutation_p.K237E|MLLT3_ENST00000380338.4_Missense_Mutation_p.K240E			P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		TTCAGTGGTTTATTTTCTTTG	0.388			T	MLL	ALL								96	134					0	0	1	0	0	C	20414126	T	C	20414126	1	2	43	1	0	0	0	0	0	0	0	0	9676	1763	61	3		3	MLLT3	9	20414126	Translation_Start_Site	SNP	T	TCGA-DB-A64Q-01A-11D-A29Q-08		20414126	120799305	14	1876											
GLT6D1	360203	broad.mit.edu	37	9	138516117	138516117	+	Silent	SNP	C	C	T			TCGA-DB-A64Q-01A-11D-A29Q-08	TCGA-DB-A64Q-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb1dc195-0b41-4ff7-8364-7fdcb4a96521	62bd6123-d070-4bde-af89-8177daee0949	g.chr9:138516117C>T	ENST00000371763.1	-	5	910	c.657G>A	c.(655-657)ccG>ccA	p.P219P		NM_182974.2	NP_892019.2	Q7Z4J2	GL6D1_HUMAN	glycosyltransferase 6 domain containing 1	219			P -> S (in dbSNP:rs17040344).		carbohydrate metabolic process	integral to membrane	transferase activity, transferring hexosyl groups	p.P219P(1)		endometrium(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	15		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;4.3e-07)|Epithelial(140;1.58e-06)|all cancers(34;5.36e-05)		CCTGTCCAAACGGGATGCAAG	0.493													45	82					0	0	1	0	0	T	138516117	C	T	138516117	2	4	43	1	0	0	0	0	0	0	0	1	6510	523	19	1		1	GLT6D1	9	138516117	Silent	SNP	C	TCGA-DB-A64Q-01A-11D-A29Q-08	118101991	138516117	2697314	15	1877											
TEAD1	7003	broad.mit.edu	37	11	12901386	12901386	+	Silent	SNP	G	G	A			TCGA-DB-A64Q-01A-11D-A29Q-08	TCGA-DB-A64Q-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb1dc195-0b41-4ff7-8364-7fdcb4a96521	62bd6123-d070-4bde-af89-8177daee0949	g.chr11:12901386G>A	ENST00000361905.4	+	6	1082	c.417G>A	c.(415-417)ccG>ccA	p.P139P	TEAD1_ENST00000526600.1_Silent_p.P58P|TEAD1_ENST00000527575.1_Silent_p.P154P|TEAD1_ENST00000361985.2_Silent_p.P154P|TEAD1_ENST00000334310.6_Silent_p.P143P|TEAD1_ENST00000527636.1_Silent_p.P154P	NM_021961.5	NP_068780.2	P28347	TEAD1_HUMAN	TEA domain family member 1 (SV40 transcriptional enhancer factor)	154					hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	p.P139P(1)		breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)	17				Epithelial(150;0.00223)|BRCA - Breast invasive adenocarcinoma(625;0.236)		CAGGGGCGCCGGGGGTAAGTC	0.597													48	73					0	0	1	0	0	A	12901386	G	A	12901386	2	1	43	1	0	0	0	0	0	0	0	1	15797	1103	39	1		1	TEAD1	11	12901386	Silent	SNP	G	TCGA-DB-A64Q-01A-11D-A29Q-08		12901386	122105130	16	1878											
EML1	2009	broad.mit.edu	37	14	100367314	100367314	+	Missense_Mutation	SNP	C	C	G			TCGA-DB-A64Q-01A-11D-A29Q-08	TCGA-DB-A64Q-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb1dc195-0b41-4ff7-8364-7fdcb4a96521	62bd6123-d070-4bde-af89-8177daee0949	g.chr14:100367314C>G	ENST00000262233.6	+	9	1085	c.946C>G	c.(946-948)Ctc>Gtc	p.L316V	EML1_ENST00000327921.9_Missense_Mutation_p.L304V|EML1_ENST00000334192.4_Missense_Mutation_p.L335V	NM_004434.2	NP_004425.2	O00423	EMAL1_HUMAN	echinoderm microtubule associated protein like 1	316						cytoplasm|microtubule|microtubule associated complex	calcium ion binding|protein binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Melanoma(154;0.0879)|all_epithelial(191;0.216)				ATTGAATACTCTCCACGTCAT	0.433													40	64					0	0	1	0	0	G	100367314	C	G	100367314	3	3	43	1	0	0	0	0	1	0	0	0	5124	913	32	4	1041	4	EML1	14	100367314	Missense_Mutation	SNP	C	TCGA-DB-A64Q-01A-11D-A29Q-08		100367314	6982226	17	1879											
KRTAP9-9	81870	broad.mit.edu	37	17	39412064	39412064	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A64Q-01A-11D-A29Q-08	TCGA-DB-A64Q-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb1dc195-0b41-4ff7-8364-7fdcb4a96521	62bd6123-d070-4bde-af89-8177daee0949	g.chr17:39412064G>A	ENST00000394008.1	+	1	429	c.427G>A	c.(427-429)Gcc>Acc	p.A143T		NM_030975.2	NP_112237.2	B5MDD6	B5MDD6_HUMAN	keratin associated protein 9-9	143						keratin filament				endometrium(3)|skin(2)|upper_aerodigestive_tract(1)	6		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			CTGCCGCCCCGCCTGCTGTGA	0.612													7	413					0	0	1	0	0	A	39412064	G	A	39412064	3	1	43	1	0	0	0	0	1	0	0	0	8616	1087	38	1	429	1	KRTAP9-9	17	39412064	Missense_Mutation	SNP	G	TCGA-DB-A64Q-01A-11D-A29Q-08		39412064	41783146	18	1880											
C17orf77	146723	broad.mit.edu	37	17	72588190	72588190	+	Missense_Mutation	SNP	A	A	T			TCGA-DB-A64Q-01A-11D-A29Q-08	TCGA-DB-A64Q-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb1dc195-0b41-4ff7-8364-7fdcb4a96521	62bd6123-d070-4bde-af89-8177daee0949	g.chr17:72588190A>T	ENST00000392620.1	+	3	367	c.5A>T	c.(4-6)gAt>gTt	p.D2V	CD300LD_ENST00000375352.1_Intron|C17orf77_ENST00000328023.2_Missense_Mutation_p.D2V	NM_152460.2	NP_689673.2	Q96MU5	CQ077_HUMAN	chromosome 17 open reading frame 77	2						extracellular region				breast(2)|large_intestine(2)|lung(5)|prostate(1)|stomach(1)	11						GCATGGATGGATGAATTGGCG	0.438													45	124					0	0	1	0	0	T	72588190	A	T	72588190	3	4	43	1	0	0	0	0	1	0	0	0	1892	333	12	4	7	4	C17orf77	17	72588190	Missense_Mutation	SNP	A	TCGA-DB-A64Q-01A-11D-A29Q-08	33176126	72588190	8607020	19	1881											
LLGL2	3993	broad.mit.edu	37	17	73570548	73570548	+	Missense_Mutation	SNP	A	A	G			TCGA-DB-A64Q-01A-11D-A29Q-08	TCGA-DB-A64Q-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb1dc195-0b41-4ff7-8364-7fdcb4a96521	62bd6123-d070-4bde-af89-8177daee0949	g.chr17:73570548A>G	ENST00000392550.3	+	24	3085	c.2968A>G	c.(2968-2970)Atc>Gtc	p.I990V	LLGL2_ENST00000167462.5_Intron|LLGL2_ENST00000577200.1_Missense_Mutation_p.I990V	NM_001031803.1	NP_001026973.1	Q6P1M3	L2GL2_HUMAN	lethal giant larvae homolog 2 (Drosophila)	990					cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity	cytoplasm|intracellular membrane-bounded organelle	PDZ domain binding			NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)			CCTGAAGGAAATCCAGAGCAC	0.697													4	6					0	0	1	0	0	G	73570548	A	G	73570548	3	3	43	1	0	0	0	0	1	0	0	0	8875	101	4	3	3093	3	LLGL2	17	73570548	Missense_Mutation	SNP	A	TCGA-DB-A64Q-01A-11D-A29Q-08	982358	73570548	7624662	20	1882											
LRRC30	339291	broad.mit.edu	37	18	7231991	7231991	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DB-A64Q-01A-11D-A29Q-08	TCGA-DB-A64Q-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb1dc195-0b41-4ff7-8364-7fdcb4a96521	62bd6123-d070-4bde-af89-8177daee0949	g.chr18:7231991delG	ENST00000383467.2	+	1	869	c.855delG	c.(853-855)gagfs	p.E285fs		NM_001105581.1	NP_001099051.1	A6NM36	LRC30_HUMAN	leucine rich repeat containing 30	285										central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						AGCTGGTGGAGGGGGGCCTGG	0.582													7	402	---	---	---	---						-	7231991	G	-	7231991	7	5	43	1	0	1	0	1	0	0	0	0	9030	991	35	0	857	0	LRRC30	18	7231991	Frame_Shift_Del	DEL	G	TCGA-DB-A64Q-01A-11D-A29Q-08		7231991	70845257	21	1883											
PALM	5064	broad.mit.edu	37	19	746735	746735	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A64Q-01A-11D-A29Q-08	TCGA-DB-A64Q-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb1dc195-0b41-4ff7-8364-7fdcb4a96521	62bd6123-d070-4bde-af89-8177daee0949	g.chr19:746735C>T	ENST00000264560.7	+	8	1147	c.953C>T	c.(952-954)gCg>gTg	p.A318V	PALM_ENST00000593172.1_3'UTR|PALM_ENST00000338448.5_Missense_Mutation_p.A362V	NM_001040134.1	NP_001035224.1	O75781	PALM_HUMAN	paralemmin	362					cellular component movement|negative regulation of adenylate cyclase activity|negative regulation of dopamine receptor signaling pathway|positive regulation of filopodium assembly|regulation of cell shape	cytoplasmic membrane-bounded vesicle|filopodium membrane|integral to plasma membrane				endometrium(2)|large_intestine(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_epithelial(18;2.19e-21)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)|Lung(535;0.201)		GAGAATCAGGCGGGGCCCGAG	0.672													13	10					0	0	1	0	0	T	746735	C	T	746735	3	4	43	1	0	0	0	0	1	0	0	0	11455	768	27	1	1119	1	PALM	19	746735	Missense_Mutation	SNP	C	TCGA-DB-A64Q-01A-11D-A29Q-08		746735	58382248	22	1884											
CIC	23152	broad.mit.edu	37	19	42799051	42799051	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A64Q-01A-11D-A29Q-08	TCGA-DB-A64Q-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb1dc195-0b41-4ff7-8364-7fdcb4a96521	62bd6123-d070-4bde-af89-8177daee0949	g.chr19:42799051G>A	ENST00000572681.2	+	21	7321	c.7253G>A	c.(7252-7254)cGt>cAt	p.R2418H	CIC_ENST00000575354.2_Missense_Mutation_p.R1512H|CIC_ENST00000160740.3_Missense_Mutation_p.R1510H			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	1512					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				TTGAAGATCCGTGAGGTGCGC	0.627			"Mis, F, S"		oligodendroglioma								53	24					0	0	1	0	0	A	42799051	G	A	42799051	3	1	43	1	0	0	0	0	1	0	0	0	3446	1145	40	1	4613	1	CIC	19	42799051	Missense_Mutation	SNP	G	TCGA-DB-A64Q-01A-11D-A29Q-08	42052316	42799051	16329932	23	1885											
KRTAP19-1	337882	broad.mit.edu	37	21	31852407	31852407	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A64Q-01A-11D-A29Q-08	TCGA-DB-A64Q-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb1dc195-0b41-4ff7-8364-7fdcb4a96521	62bd6123-d070-4bde-af89-8177daee0949	g.chr21:31852407C>T	ENST00000390689.2	-	1	256	c.230G>A	c.(229-231)cGc>cAc	p.R77H		NM_181607.1	NP_853638.1	Q8IUB9	KR191_HUMAN	keratin associated protein 19-1	77	26 X 2 AA repeats of G-[YCGS].					intermediate filament		p.R77H(1)		cervix(1)|endometrium(1)|large_intestine(2)|lung(2)	6						GTACGATGGGCGGCAGCAGCC	0.488													16	428					0	0	1	0	0	T	31852407	C	T	31852407	3	4	43	1	0	0	0	0	1	0	0	0	8571	768	27	1	44	1	KRTAP19-1	21	31852407	Missense_Mutation	SNP	C	TCGA-DB-A64Q-01A-11D-A29Q-08		31852407	16277488	24	1886											
SYNJ1	8867	broad.mit.edu	37	21	34053835	34053835	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A64Q-01A-11D-A29Q-08	TCGA-DB-A64Q-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb1dc195-0b41-4ff7-8364-7fdcb4a96521	62bd6123-d070-4bde-af89-8177daee0949	g.chr21:34053835C>T	ENST00000382499.2	-	11	1440	c.1441G>A	c.(1441-1443)Gga>Aga	p.G481R	SYNJ1_ENST00000357345.3_Missense_Mutation_p.G442R|SYNJ1_ENST00000382491.3_Missense_Mutation_p.G442R|SYNJ1_ENST00000433931.2_Missense_Mutation_p.G481R|SYNJ1_ENST00000322229.7_Missense_Mutation_p.G442R	NM_203446.2	NP_982271.2	O43426	SYNJ1_HUMAN	synaptojanin 1	442							inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						GCTCCAGTTCCTGCATATATC	0.393													6	129					0	0	1	0	0	T	34053835	C	T	34053835	3	4	43	1	0	0	0	0	1	0	0	0	15509	690	24	2	3519	2	SYNJ1	21	34053835	Missense_Mutation	SNP	C	TCGA-DB-A64Q-01A-11D-A29Q-08	2201428	34053835	14076060	25	1887											
DEPDC5	9681	broad.mit.edu	37	22	32211066	32211066	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A64Q-01A-11D-A29Q-08	TCGA-DB-A64Q-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb1dc195-0b41-4ff7-8364-7fdcb4a96521	62bd6123-d070-4bde-af89-8177daee0949	g.chr22:32211066C>T	ENST00000400246.1	+	21	1676	c.1534C>T	c.(1534-1536)Ccc>Tcc	p.P512S	DEPDC5_ENST00000400242.3_Missense_Mutation_p.P512S|DEPDC5_ENST00000400248.2_Missense_Mutation_p.P512S|DEPDC5_ENST00000266091.3_Missense_Mutation_p.P512S|DEPDC5_ENST00000400249.2_Missense_Mutation_p.P512S|DEPDC5_ENST00000536766.1_Missense_Mutation_p.P484S|DEPDC5_ENST00000382105.2_Missense_Mutation_p.P512S|DEPDC5_ENST00000382112.3_Missense_Mutation_p.P512S|DEPDC5_ENST00000382111.2_Missense_Mutation_p.P512S|DEPDC5_ENST00000535622.1_Missense_Mutation_p.P512S			O75140	DEPD5_HUMAN	DEP domain containing 5	512					intracellular signal transduction					breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						CCGCACACTGCCCACTGAGGA	0.572													4	159					0	0	1	0	0	T	32211066	C	T	32211066	3	4	43	1	0	0	0	0	1	0	0	0	4470	739	26	2	1612	2	DEPDC5	22	32211066	Missense_Mutation	SNP	C	TCGA-DB-A64Q-01A-11D-A29Q-08		32211066	19093500	26	1888											
RGAG4	340526	broad.mit.edu	37	X	71351107	71351107	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DB-A64Q-01A-11D-A29Q-08	TCGA-DB-A64Q-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb1dc195-0b41-4ff7-8364-7fdcb4a96521	62bd6123-d070-4bde-af89-8177daee0949	g.chrX:71351107delT	ENST00000545866.1	-	1	651	c.284delA	c.(283-285)gagfs	p.E95fs	RGAG4_ENST00000609883.1_Frame_Shift_Del_p.E95fs|NHSL2_ENST00000540800.1_Intron	NM_001024455.3	NP_001019626.1	Q5HYW3	RGAG4_HUMAN	retrotransposon gag domain containing 4	95										cervix(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|skin(1)	24	Renal(35;0.156)					ACAGTCGGGCTCCGCGCGTGG	0.647													28	25	---	---	---	---						-	71351107	T	-	71351107	7	5	43	1	0	1	0	1	0	0	0	0	13327	1551	54	0	1429	0	RGAG4	23	71351107	Frame_Shift_Del	DEL	T	TCGA-DB-A64Q-01A-11D-A29Q-08		71351107	83919453	27	1889											
FLNA	2316	broad.mit.edu	37	X	153595807	153595807	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A64Q-01A-11D-A29Q-08	TCGA-DB-A64Q-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb1dc195-0b41-4ff7-8364-7fdcb4a96521	62bd6123-d070-4bde-af89-8177daee0949	g.chrX:153595807G>A	ENST00000422373.1	-	5	1074	c.826C>T	c.(826-828)Cgg>Tgg	p.R276W	FLNA_ENST00000360319.4_Missense_Mutation_p.R276W|FLNA_ENST00000369850.3_Missense_Mutation_p.R276W|FLNA_ENST00000344736.4_Missense_Mutation_p.R276W	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN	filamin A, alpha	276					actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					AGTTTGGGCCGCAAGGGAGCC	0.632													4	123					0	0	1	0	0	A	153595807	G	A	153595807	3	1	43	1	0	0	0	0	1	0	0	0	5966	1086	38	1	7293	1	FLNA	23	153595807	Missense_Mutation	SNP	G	TCGA-DB-A64Q-01A-11D-A29Q-08	82244700	153595807	1674753	28	1890											
NBAS	51594	broad.mit.edu	37	2	15564503	15564503	+	Missense_Mutation	SNP	G	G	A	rs144830164		TCGA-DB-A64R-01A-11D-A29Q-08	TCGA-DB-A64R-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6aabc71-ee6f-4087-935b-bbfc98402bef	a23d80d0-edbd-48e9-9e2a-db845766e840	g.chr2:15564503G>A	ENST00000281513.5	-	23	2538	c.2513C>T	c.(2512-2514)aCg>aTg	p.T838M	NBAS_ENST00000441750.1_Missense_Mutation_p.T838M	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	838										NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						CTTCTCCACCGTAAGCTGGGT	0.478													25	26					0	0	1	0	0	A	15564503	G	A	15564503	3	1	44	1	0	0	0	0	1	0	0	0	10234	1145	40	1	4722	1	NBAS	2	15564503	Missense_Mutation	SNP	G	TCGA-DB-A64R-01A-11D-A29Q-08		15564503	227634870	1	1891											
NEB	4703	broad.mit.edu	37	2	152483595	152483595	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A64R-01A-11D-A29Q-08	TCGA-DB-A64R-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6aabc71-ee6f-4087-935b-bbfc98402bef	a23d80d0-edbd-48e9-9e2a-db845766e840	g.chr2:152483595G>A	ENST00000427231.2	-	70	10470	c.10268C>T	c.(10267-10269)cCg>cTg	p.P3423L	NEB_ENST00000603639.1_Missense_Mutation_p.P3423L|NEB_ENST00000172853.10_Missense_Mutation_p.P3180L|NEB_ENST00000604864.1_Missense_Mutation_p.P3423L|NEB_ENST00000409198.1_Missense_Mutation_p.P3180L|NEB_ENST00000397345.3_Missense_Mutation_p.P3423L	NM_001164507.1|NM_001271208.1	NP_001157979|NP_001258137.1	P20929	NEBU_HUMAN	nebulin	3423					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CAGCTTGTCCGGAGGCTGGCG	0.502													4	103					0	0	1	0	0	A	152483595	G	A	152483595	3	1	44	1	0	0	0	0	1	0	0	0	10349	1116	39	1	15870	1	NEB	2	152483595	Missense_Mutation	SNP	G	TCGA-DB-A64R-01A-11D-A29Q-08	136919092	152483595	90715778	2	1892											
EVX2	344191	broad.mit.edu	37	2	176948214	176948214	+	Missense_Mutation	SNP	C	C	G			TCGA-DB-A64R-01A-11D-A29Q-08	TCGA-DB-A64R-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6aabc71-ee6f-4087-935b-bbfc98402bef	a23d80d0-edbd-48e9-9e2a-db845766e840	g.chr2:176948214C>G	ENST00000308618.4	-	1	427	c.291G>C	c.(289-291)gaG>gaC	p.E97D		NM_001080458.1	NP_001073927.1	Q03828	EVX2_HUMAN	even-skipped homeobox 2	97						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(3)|liver(1)|lung(8)|ovary(3)	16			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	READ - Rectum adenocarcinoma(9;0.0678)|Colorectal(32;0.115)		TCTTGCGGCTCTCGGCGGCGG	0.642													17	47					0	0	1	0	0	G	176948214	C	G	176948214	3	3	44	1	0	0	0	0	1	0	0	0	5322	912	32	4	1149	4	EVX2	2	176948214	Missense_Mutation	SNP	C	TCGA-DB-A64R-01A-11D-A29Q-08	24464619	176948214	66251159	3	1893											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-DB-A64R-01A-11D-A29Q-08	TCGA-DB-A64R-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6aabc71-ee6f-4087-935b-bbfc98402bef	a23d80d0-edbd-48e9-9e2a-db845766e840	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								18	27					0	0	1	0	0	T	209113112	C	T	209113112	3	4	44	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-DB-A64R-01A-11D-A29Q-08	32164898	209113112	34086261	4	1894											
MST1	4485	broad.mit.edu	37	3	49723525	49723525	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A64R-01A-11D-A29Q-08	TCGA-DB-A64R-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6aabc71-ee6f-4087-935b-bbfc98402bef	a23d80d0-edbd-48e9-9e2a-db845766e840	g.chr3:49723525G>A	ENST00000449682.2	-	9	1478	c.1117C>T	c.(1117-1119)Cgg>Tgg	p.R373W	MST1_ENST00000383728.3_3'UTR	NM_020998.3	NP_066278.3	P26927	HGFL_HUMAN	macrophage stimulating 1 (hepatocyte growth factor-like)	359	Kringle 4.				proteolysis	extracellular region	serine-type endopeptidase activity			NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2)	41				BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		GTACAACGCCGGATCTGGTAG	0.687													3	31					0	0	1	0	0	A	49723525	G	A	49723525	3	1	44	1	0	0	0	0	1	0	0	0	9938	1115	39	1	1100	1	MST1	3	49723525	Missense_Mutation	SNP	G	TCGA-DB-A64R-01A-11D-A29Q-08		49723525	148298905	5	1895											
C5orf34	375444	broad.mit.edu	37	5	43506078	43506078	+	Missense_Mutation	SNP	T	T	C			TCGA-DB-A64R-01A-11D-A29Q-08	TCGA-DB-A64R-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6aabc71-ee6f-4087-935b-bbfc98402bef	a23d80d0-edbd-48e9-9e2a-db845766e840	g.chr5:43506078T>C	ENST00000306862.2	-	4	1079	c.704A>G	c.(703-705)tAc>tGc	p.Y235C	RP11-159F24.3_ENST00000505645.1_RNA	NM_198566.2	NP_940968	Q96MH7	CE034_HUMAN	chromosome 5 open reading frame 34	235										breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|stomach(2)	21	Lung NSC(6;2.07e-05)					GACCCATGTGTATACACATGT	0.413													54	70					0	0	1	0	0	C	43506078	T	C	43506078	3	2	44	1	0	0	0	0	1	0	0	0	2308	1638	57	3	1252	3	C5orf34	5	43506078	Missense_Mutation	SNP	T	TCGA-DB-A64R-01A-11D-A29Q-08		43506078	137409182	6	1896											
FARS2	10667	broad.mit.edu	37	6	5771549	5771549	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A64R-01A-11D-A29Q-08	TCGA-DB-A64R-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6aabc71-ee6f-4087-935b-bbfc98402bef	a23d80d0-edbd-48e9-9e2a-db845766e840	g.chr6:5771549C>T	ENST00000324331.6	+	7	1579	c.1243C>T	c.(1243-1245)Cgc>Tgc	p.R415C	FARS2_ENST00000274680.4_Missense_Mutation_p.R415C			O95363	SYFM_HUMAN	phenylalanyl-tRNA synthetase 2, mitochondrial	415	FDX-ACB.				phenylalanyl-tRNA aminoacylation|tRNA processing	mitochondrial matrix|soluble fraction	ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|tRNA binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|prostate(1)|stomach(2)	15	Ovarian(93;0.11)	all_hematologic(90;0.0104)			L-Phenylalanine(DB00120)	CCACTGCTACCGCATCACGTA	0.592													28	36					0	0	1	0	0	T	5771549	C	T	5771549	3	4	44	1	0	0	0	0	1	0	0	0	5711	652	23	1	1265	1	FARS2	6	5771549	Missense_Mutation	SNP	C	TCGA-DB-A64R-01A-11D-A29Q-08		5771549	165343518	7	1897											
PNPLA1	285848	broad.mit.edu	37	6	36260899	36260899	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A64R-01A-11D-A29Q-08	TCGA-DB-A64R-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6aabc71-ee6f-4087-935b-bbfc98402bef	a23d80d0-edbd-48e9-9e2a-db845766e840	g.chr6:36260899G>A	ENST00000394571.2	+	3	500	c.500G>A	c.(499-501)gGt>gAt	p.G167D	PNPLA1_ENST00000388715.3_Missense_Mutation_p.G72D|PNPLA1_ENST00000312917.5_Missense_Mutation_p.G72D	NM_001145717.1	NP_001139189.2	Q8N8W4	PLPL1_HUMAN	patatin-like phospholipase domain containing 1	167	Patatin.				lipid catabolic process		hydrolase activity			breast(1)|kidney(1)|large_intestine(4)|lung(9)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	22						ACTTACCGCGGTGTGGTGAGT	0.637													4	87					0	0	1	0	0	A	36260899	G	A	36260899	3	1	44	1	0	0	0	0	1	0	0	0	12212	1261	44	2	510	2	PNPLA1	6	36260899	Missense_Mutation	SNP	G	TCGA-DB-A64R-01A-11D-A29Q-08	30489350	36260899	134854168	8	1898											
KHDC1	80759	broad.mit.edu	37	6	73951385	73951385	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A64R-01A-11D-A29Q-08	TCGA-DB-A64R-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6aabc71-ee6f-4087-935b-bbfc98402bef	a23d80d0-edbd-48e9-9e2a-db845766e840	g.chr6:73951385C>T	ENST00000370384.3	-	5	1081	c.581G>A	c.(580-582)aGt>aAt	p.S194N	RP11-257K9.8_ENST00000423730.3_Intron|KHDC1_ENST00000257765.5_Missense_Mutation_p.S121N	NM_001251874.1	NP_001238803.1	Q4VXA5	KHDC1_HUMAN	KH homology domain containing 1	194						integral to membrane	RNA binding			large_intestine(1)|lung(4)|skin(1)	6						TGGTGGCACACTAATGGAGGT	0.537													4	101					0	0	1	0	0	T	73951385	C	T	73951385	3	4	44	1	0	0	0	0	1	0	0	0	8187	565	20	2	136	2	KHDC1	6	73951385	Missense_Mutation	SNP	C	TCGA-DB-A64R-01A-11D-A29Q-08	37690486	73951385	97163682	9	1899											
ORAI2	80228	broad.mit.edu	37	7	102087148	102087148	+	Silent	SNP	G	G	A	rs140584655		TCGA-DB-A64R-01A-11D-A29Q-08	TCGA-DB-A64R-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6aabc71-ee6f-4087-935b-bbfc98402bef	a23d80d0-edbd-48e9-9e2a-db845766e840	g.chr7:102087148G>A	ENST00000356387.2	+	4	649	c.414G>A	c.(412-414)ccG>ccA	p.P138P	ORAI2_ENST00000478730.2_Silent_p.P138P|ORAI2_ENST00000473939.1_Silent_p.P138P|ORAI2_ENST00000403646.3_Silent_p.P138P|ORAI2_ENST00000488996.1_3'UTR	NM_001126340.1|NM_001271818.1|NM_001271819.1|NM_032831.3	NP_001119812.1|NP_001258747.1|NP_001258748.1|NP_116220.1	Q96SN7	ORAI2_HUMAN	ORAI calcium release-activated calcium modulator 2	138						integral to membrane	protein binding			autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|lung(4)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	15						GCGAGTCCCCGCATGAGCGCA	0.617													5	157					0	0	1	0	0	A	102087148	G	A	102087148	2	1	44	1	0	0	0	0	0	0	0	1	11305	1074	38	1		1	ORAI2	7	102087148	Silent	SNP	G	TCGA-DB-A64R-01A-11D-A29Q-08		102087148	57051515	10	1900											
SLC7A13	157724	broad.mit.edu	37	8	87229764	87229764	+	Missense_Mutation	SNP	T	T	G			TCGA-DB-A64R-01A-11D-A29Q-08	TCGA-DB-A64R-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6aabc71-ee6f-4087-935b-bbfc98402bef	a23d80d0-edbd-48e9-9e2a-db845766e840	g.chr8:87229764T>G	ENST00000297524.3	-	3	1217	c.1114A>C	c.(1114-1116)Ata>Cta	p.I372L	SLC7A13_ENST00000419776.2_Missense_Mutation_p.I363L	NM_138817.2	NP_620172.2	Q8TCU3	S7A13_HUMAN	solute carrier family 7 (anionic amino acid transporter), member 13	372						integral to membrane	amino acid transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	45						ATTAATAATATAGACCATAAT	0.323													16	20					0	0	1	0	0	G	87229764	T	G	87229764	3	3	44	1	0	0	0	0	1	0	0	0	14750	1406	49	4	306	4	SLC7A13	8	87229764	Missense_Mutation	SNP	T	TCGA-DB-A64R-01A-11D-A29Q-08		87229764	59134258	11	1901											
CSMD3	114788	broad.mit.edu	37	8	113364708	113364708	+	Silent	SNP	A	A	G			TCGA-DB-A64R-01A-11D-A29Q-08	TCGA-DB-A64R-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6aabc71-ee6f-4087-935b-bbfc98402bef	a23d80d0-edbd-48e9-9e2a-db845766e840	g.chr8:113364708A>G	ENST00000297405.5	-	39	6436	c.6192T>C	c.(6190-6192)atT>atC	p.I2064I	CSMD3_ENST00000352409.3_Silent_p.I1994I|CSMD3_ENST00000455883.2_Silent_p.I1960I|CSMD3_ENST00000343508.3_Silent_p.I2024I	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2064	Sushi 11.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ATCTGTCTCCAATTTTAATTC	0.328										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			14	32					0	0	1	0	0	G	113364708	A	G	113364708	2	3	44	1	0	0	0	0	0	0	0	1	3971	126	5	3		3	CSMD3	8	113364708	Silent	SNP	A	TCGA-DB-A64R-01A-11D-A29Q-08	26134944	113364708	32999314	12	1902											
KDM4C	23081	broad.mit.edu	37	9	6805637	6805637	+	Nonsense_Mutation	SNP	T	T	G			TCGA-DB-A64R-01A-11D-A29Q-08	TCGA-DB-A64R-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6aabc71-ee6f-4087-935b-bbfc98402bef	a23d80d0-edbd-48e9-9e2a-db845766e840	g.chr9:6805637T>G	ENST00000381309.3	+	3	748	c.183T>G	c.(181-183)taT>taG	p.Y61*	KDM4C_ENST00000381306.3_Nonsense_Mutation_p.Y61*|KDM4C_ENST00000442236.2_Intron|KDM4C_ENST00000535193.1_Nonsense_Mutation_p.Y83*|KDM4C_ENST00000489243.1_3'UTR|KDM4C_ENST00000543771.1_Nonsense_Mutation_p.Y61*|KDM4C_ENST00000536108.1_De_novo_Start_OutOfFrame|KDM4C_ENST00000401787.3_Nonsense_Mutation_p.Y61*	NM_015061.3	NP_055876.2	Q9H3R0	KDM4C_HUMAN	lysine (K)-specific demethylase 4C	61					positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	nuclear chromatin	androgen receptor binding|enzyme binding|histone demethylase activity (H3-K9 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43						GACAGTGCTATGATGACATTG	0.368													30	34					0	0	1	0	0	G	6805637	T	G	6805637	4	3	44	1	0	0	0	0	0	1	0	0	8174	1471	51	4	259	4	KDM4C	9	6805637	Nonsense_Mutation	SNP	T	TCGA-DB-A64R-01A-11D-A29Q-08		6805637	134407794	13	1903											
UNC13B	10497	broad.mit.edu	37	9	35399692	35399692	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A64R-01A-11D-A29Q-08	TCGA-DB-A64R-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6aabc71-ee6f-4087-935b-bbfc98402bef	a23d80d0-edbd-48e9-9e2a-db845766e840	g.chr9:35399692G>A	ENST00000378495.3	+	35	4277	c.4055G>A	c.(4054-4056)tGt>tAt	p.C1352Y	UNC13B_ENST00000378496.4_Missense_Mutation_p.C1352Y|UNC13B_ENST00000396787.1_Missense_Mutation_p.C1364Y	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	unc-13 homolog B (C. elegans)	1352	MHD2.				excretion|induction of apoptosis|intracellular signal transduction	cell junction|Golgi apparatus|synapse	metal ion binding|receptor activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			CCAAAGCAGTGTGCAGTCCTT	0.522													6	243					0	0	1	0	0	A	35399692	G	A	35399692	3	1	44	1	0	0	0	0	1	0	0	0	17045	1377	48	2	4193	2	UNC13B	9	35399692	Missense_Mutation	SNP	G	TCGA-DB-A64R-01A-11D-A29Q-08	28594055	35399692	105813739	14	1904											
LCN1	3933	broad.mit.edu	37	9	138415819	138415819	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A64R-01A-11D-A29Q-08	TCGA-DB-A64R-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6aabc71-ee6f-4087-935b-bbfc98402bef	a23d80d0-edbd-48e9-9e2a-db845766e840	g.chr9:138415819G>A	ENST00000263598.2	+	4	446	c.386G>A	c.(385-387)cGa>cAa	p.R129Q	LCN1_ENST00000371781.3_Missense_Mutation_p.R129Q	NM_001252617.1|NM_001252618.1|NM_001252619.1|NM_002297.3	NP_001239546.1|NP_001239547.1|NP_001239548.1|NP_002288.1	P31025	LCN1_HUMAN	lipocalin 1	129					proteolysis|response to stimulus|sensory perception of taste	extracellular region	cysteine-type endopeptidase inhibitor activity|transporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)	13		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.54e-08)|Epithelial(140;5.25e-08)|all cancers(34;9.27e-07)|READ - Rectum adenocarcinoma(205;0.155)		AAGCCGGTCCGAGGGGTGAAG	0.642													29	32					0	0	1	0	0	A	138415819	G	A	138415819	3	1	44	1	0	0	0	0	1	0	0	0	8719	1058	37	1	400	1	LCN1	9	138415819	Missense_Mutation	SNP	G	TCGA-DB-A64R-01A-11D-A29Q-08	103016127	138415819	2797612	15	1905											
SLC26A10	65012	broad.mit.edu	37	12	58014090	58014090	+	Silent	SNP	C	C	T			TCGA-DB-A64R-01A-11D-A29Q-08	TCGA-DB-A64R-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6aabc71-ee6f-4087-935b-bbfc98402bef	a23d80d0-edbd-48e9-9e2a-db845766e840	g.chr12:58014090C>T	ENST00000379218.2	+	1	398	c.87C>T	c.(85-87)tcC>tcT	p.S29S	SLC26A10_ENST00000320442.4_Silent_p.S29S			Q8NG04	S2610_HUMAN	solute carrier family 26, member 10	29						integral to membrane	antiporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)	19	Melanoma(17;0.122)					AGGCCCCCTCCCCACAGCACA	0.547													8	518					0	0	1	0	0	T	58014090	C	T	58014090	2	4	44	1	0	0	0	0	0	0	0	1	14570	610	22	2		2	SLC26A10	12	58014090	Silent	SNP	C	TCGA-DB-A64R-01A-11D-A29Q-08		58014090	75837805	16	1906											
CIB2	10518	broad.mit.edu	37	15	78401696	78401696	+	Missense_Mutation	SNP	G	G	A	rs147498144		TCGA-DB-A64R-01A-11D-A29Q-08	TCGA-DB-A64R-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6aabc71-ee6f-4087-935b-bbfc98402bef	a23d80d0-edbd-48e9-9e2a-db845766e840	g.chr15:78401696G>A	ENST00000258930.3	-	4	555	c.227C>T	c.(226-228)gCg>gTg	p.A76V	CIB2_ENST00000557846.1_Missense_Mutation_p.A27V|CIB2_ENST00000539011.1_Missense_Mutation_p.A33V|CIB2_ENST00000560618.1_Missense_Mutation_p.A33V	NM_006383.2	NP_006374.1	O75838	CIB2_HUMAN	calcium and integrin binding family member 2	76	EF-hand 1.						calcium ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	11						GGAAAACGCCGCCACGATCCT	0.552													12	59					0	0	1	0	0	A	78401696	G	A	78401696	3	1	44	1	0	0	0	0	1	0	0	0	3443	1087	38	1	348	1	CIB2	15	78401696	Missense_Mutation	SNP	G	TCGA-DB-A64R-01A-11D-A29Q-08		78401696	24129696	17	1907											
OR1A1	8383	broad.mit.edu	37	17	3119151	3119151	+	Silent	SNP	T	T	C			TCGA-DB-A64R-01A-11D-A29Q-08	TCGA-DB-A64R-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6aabc71-ee6f-4087-935b-bbfc98402bef	a23d80d0-edbd-48e9-9e2a-db845766e840	g.chr17:3119151T>C	ENST00000304094.1	+	1	237	c.237T>C	c.(235-237)ccT>ccC	p.P79P		NM_014565.2	NP_055380.2	Q9P1Q5	OR1A1_HUMAN	olfactory receptor, family 1, subfamily A, member 1	79					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	23						TAACCATCCCTAAGATGCTGG	0.478													4	133					0	0	1	0	0	C	3119151	T	C	3119151	2	2	44	1	0	0	0	0	0	0	0	1	10997	1509	53	3		3	OR1A1	17	3119151	Silent	SNP	T	TCGA-DB-A64R-01A-11D-A29Q-08		3119151	78076059	18	1908											
ACTG1	71	broad.mit.edu	37	17	79478017	79478017	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A64R-01A-11D-A29Q-08	TCGA-DB-A64R-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6aabc71-ee6f-4087-935b-bbfc98402bef	a23d80d0-edbd-48e9-9e2a-db845766e840	g.chr17:79478017G>A	ENST00000575842.1	-	4	1346	c.920C>T	c.(919-921)cCg>cTg	p.P307L	ACTG1_ENST00000331925.2_Missense_Mutation_p.P307L|ACTG1_ENST00000573283.1_Missense_Mutation_p.P307L|ACTG1_ENST00000575087.1_Missense_Mutation_p.P307L			P63261	ACTG_HUMAN	actin, gamma 1	307					adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement	cytoskeleton|cytosol	ATP binding|identical protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|lung(8)|ovary(2)|prostate(5)|urinary_tract(1)	29	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0547)			GGCAATGCCCGGGTACATGGT	0.607													4	124					0	0	1	0	0	A	79478017	G	A	79478017	3	1	44	1	0	0	0	0	1	0	0	0	196	1116	39	1	215	1	ACTG1	17	79478017	Missense_Mutation	SNP	G	TCGA-DB-A64R-01A-11D-A29Q-08	76358866	79478017	1717193	19	1909											
MYOM1	8736	broad.mit.edu	37	18	3134811	3134811	+	Missense_Mutation	SNP	C	C	G			TCGA-DB-A64R-01A-11D-A29Q-08	TCGA-DB-A64R-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6aabc71-ee6f-4087-935b-bbfc98402bef	a23d80d0-edbd-48e9-9e2a-db845766e840	g.chr18:3134811C>G	ENST00000400569.3	-	16	2554	c.2221G>C	c.(2221-2223)Gct>Cct	p.A741P	MYOM1_ENST00000261606.7_Missense_Mutation_p.A741P|MYOM1_ENST00000356443.4_Missense_Mutation_p.A741P			P52179	MYOM1_HUMAN	myomesin 1	741	Fibronectin type-III 3.					striated muscle myosin thick filament	structural constituent of muscle			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						TTGCCAGGAGCCTTGGGGATA	0.428													31	20					0	0	1	0	0	G	3134811	C	G	3134811	3	3	44	1	0	0	0	0	1	0	0	0	10139	739	26	5	2928	5	MYOM1	18	3134811	Missense_Mutation	SNP	C	TCGA-DB-A64R-01A-11D-A29Q-08		3134811	74942437	20	1910											
CNN2	1265	broad.mit.edu	37	19	1026680	1026681	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-DB-A64R-01A-11D-A29Q-08	TCGA-DB-A64R-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6aabc71-ee6f-4087-935b-bbfc98402bef	a23d80d0-edbd-48e9-9e2a-db845766e840	g.chr19:1026680_1026681delAC	ENST00000263097.4	+	1	383_384	c.20_21delAC	c.(19-21)aacfs	p.N7fs	CNN2_ENST00000348419.3_Frame_Shift_Del_p.N7fs|CNN2_ENST00000562958.2_Frame_Shift_Del_p.N7fs|CNN2_ENST00000606983.1_3'UTR|CNN2_ENST00000565096.2_Frame_Shift_Del_p.N7fs	NM_004368.2	NP_004359.1	Q99439	CNN2_HUMAN	calponin 2	7					actomyosin structure organization|cellular response to mechanical stimulus|regulation of actin filament-based process	cell-cell junction|stress fiber	actin binding|calmodulin binding			endometrium(1)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	10		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)		ACGCAGTTCAACAAGGGCCCCT	0.762													2	4	---	---	---	---						-	1026681	AC	-	1026680	7	5	44	1	0	1	0	1	0	0	0	0	3633	43	2	0	22	0	CNN2	19	1026680	Frame_Shift_Del	DEL	AC	TCGA-DB-A64R-01A-11D-A29Q-08		1026680	58102303	21	1911											
CIC	23152	broad.mit.edu	37	19	42799059	42799059	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A64R-01A-11D-A29Q-08	TCGA-DB-A64R-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6aabc71-ee6f-4087-935b-bbfc98402bef	a23d80d0-edbd-48e9-9e2a-db845766e840	g.chr19:42799059C>T	ENST00000572681.2	+	21	7329	c.7261C>T	c.(7261-7263)Cgc>Tgc	p.R2421C	CIC_ENST00000160740.3_Missense_Mutation_p.R1513C|CIC_ENST00000575354.2_Missense_Mutation_p.R1515C			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	1515					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CCGTGAGGTGCGCCAGAAGAT	0.632			"Mis, F, S"		oligodendroglioma								39	7					0	0	1	0	0	T	42799059	C	T	42799059	3	4	44	1	0	0	0	0	1	0	0	0	3446	768	27	1	4621	1	CIC	19	42799059	Missense_Mutation	SNP	C	TCGA-DB-A64R-01A-11D-A29Q-08	41772379	42799059	16329924	22	1912											
DIDO1	11083	broad.mit.edu	37	20	61527924	61527924	+	Silent	SNP	C	C	T			TCGA-DB-A64R-01A-11D-A29Q-08	TCGA-DB-A64R-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6aabc71-ee6f-4087-935b-bbfc98402bef	a23d80d0-edbd-48e9-9e2a-db845766e840	g.chr20:61527924C>T	ENST00000266070.4	-	7	2338	c.2013G>A	c.(2011-2013)cgG>cgA	p.R671R	DIDO1_ENST00000395335.2_Silent_p.R671R|DIDO1_ENST00000395340.1_Silent_p.R671R|DIDO1_ENST00000395343.1_Silent_p.R671R	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	671	TFIIS central.				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					TGATATTTTGCCGAATTTGTG	0.478													4	167					0	0	1	0	0	T	61527924	C	T	61527924	2	4	44	1	0	0	0	0	0	0	0	1	4550	726	26	2		2	DIDO1	20	61527924	Silent	SNP	C	TCGA-DB-A64R-01A-11D-A29Q-08		61527924	1497596	23	1913											
KRTAP10-5	386680	broad.mit.edu	37	21	45999779	45999779	+	Missense_Mutation	SNP	C	C	A			TCGA-DB-A64R-01A-11D-A29Q-08	TCGA-DB-A64R-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6aabc71-ee6f-4087-935b-bbfc98402bef	a23d80d0-edbd-48e9-9e2a-db845766e840	g.chr21:45999779C>A	ENST00000400372.1	-	1	702	c.677G>T	c.(676-678)cGc>cTc	p.R226L	TSPEAR_ENST00000323084.4_Intron	NM_198694.2	NP_941967.2	P60370	KR105_HUMAN	keratin associated protein 10-5	226	22 X 5 AA repeats of C-C-X(3).					keratin filament				endometrium(2)|kidney(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	14						GCATATGGGGCGGCAGAGGAG	0.682													7	150					3.09899e-07	3.19583e-07	1	1	0	A	45999779	C	A	45999779	3	1	44	1	0	0	0	0	1	0	0	0	8555	768	27	5	142	5	KRTAP10-5	21	45999779	Missense_Mutation	SNP	C	TCGA-DB-A64R-01A-11D-A29Q-08		45999779	2130116	24	1914											
YY2	404281	broad.mit.edu	37	X	21875533	21875533	+	Missense_Mutation	SNP	T	T	C			TCGA-DB-A64R-01A-11D-A29Q-08	TCGA-DB-A64R-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6aabc71-ee6f-4087-935b-bbfc98402bef	a23d80d0-edbd-48e9-9e2a-db845766e840	g.chrX:21875533T>C	ENST00000429584.2	+	1	1429	c.931T>C	c.(931-933)Ttt>Ctt	p.F311L	MBTPS2_ENST00000465888.1_3'UTR|MBTPS2_ENST00000365779.2_Intron|MBTPS2_ENST00000379484.5_Intron	NM_206923.3	NP_996806.2	O15391	TYY2_HUMAN	YY2 transcription factor	311	Mediates transcriptional repression.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|plasma membrane	DNA binding|zinc ion binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(2)	19						CGAGAAGCCCTTTCAGTGCAC	0.557													6	497					0	0	1	0	0	C	21875533	T	C	21875533	3	2	44	1	0	0	0	0	1	0	0	0	17569	1609	56	3	933	3	YY2	23	21875533	Missense_Mutation	SNP	T	TCGA-DB-A64R-01A-11D-A29Q-08		21875533	133395027	25	1915											
SLC35A2	7355	broad.mit.edu	37	X	48763802	48763802	+	Missense_Mutation	SNP	A	A	T			TCGA-DB-A64R-01A-11D-A29Q-08	TCGA-DB-A64R-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6aabc71-ee6f-4087-935b-bbfc98402bef	a23d80d0-edbd-48e9-9e2a-db845766e840	g.chrX:48763802A>T	ENST00000376521.1	-	3	614	c.293T>A	c.(292-294)gTt>gAt	p.V98D	SLC35A2_ENST00000376515.3_Missense_Mutation_p.V74D|SLC35A2_ENST00000247138.5_Missense_Mutation_p.V98D|SLC35A2_ENST00000376512.1_Missense_Mutation_p.V98D|SLC35A2_ENST00000413561.2_Missense_Mutation_p.V37D|SLC35A2_ENST00000452555.2_Missense_Mutation_p.V126D|SLC35A2_ENST00000376529.3_Missense_Mutation_p.V98D|SLC35A2_ENST00000445167.2_Missense_Mutation_p.V98D	NM_001042498.2	NP_001035963.1	P78381	S35A2_HUMAN	solute carrier family 35 (UDP-galactose transporter), member A2	98					galactose metabolic process	Golgi membrane|integral to membrane|nucleus	sugar:hydrogen symporter activity|UDP-galactose transmembrane transporter activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(2)	15						GAGGAAGAGAACCAGGTGCTT	0.552													18	31					0	0	1	0	0	T	48763802	A	T	48763802	3	4	44	1	0	0	0	0	1	0	0	0	14626	43	2	5	1065	5	SLC35A2	23	48763802	Missense_Mutation	SNP	A	TCGA-DB-A64R-01A-11D-A29Q-08	26888269	48763802	106506758	26	1916											
RENBP	5973	broad.mit.edu	37	X	153209006	153209006	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A64R-01A-11D-A29Q-08	TCGA-DB-A64R-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6aabc71-ee6f-4087-935b-bbfc98402bef	a23d80d0-edbd-48e9-9e2a-db845766e840	g.chrX:153209006G>A	ENST00000393700.3	-	5	534	c.454C>T	c.(454-456)Cgg>Tgg	p.R152W	RENBP_ENST00000369997.3_Missense_Mutation_p.R138W|RENBP_ENST00000462086.1_5'UTR|RENBP_ENST00000412763.1_Missense_Mutation_p.R152W	NM_002910.5	NP_002901.2	P51606	RENBP_HUMAN	renin binding protein	152					mannose metabolic process|regulation of blood pressure		endopeptidase inhibitor activity|mannose-6-phosphate isomerase activity|N-acylglucosamine 2-epimerase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				N-Acetyl-D-glucosamine(DB00141)	ACCTGGTACCGCACTTCCCCT	0.622													35	32					0	0	1	0	0	A	153209006	G	A	153209006	3	1	44	1	0	0	0	0	1	0	0	0	13277	1086	38	1	857	1	RENBP	23	153209006	Missense_Mutation	SNP	G	TCGA-DB-A64R-01A-11D-A29Q-08	104445204	153209006	2061554	27	1917											
IDH1	3417	broad.mit.edu	37	2	209113113	209113113	+	Missense_Mutation	SNP	G	G	A	rs121913499		TCGA-DB-A64S-01A-11D-A29Q-08	TCGA-DB-A64S-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e7742b-cbce-4c9b-b14f-650885317983	aebdc4a8-e540-47d7-8ffb-a79d833f12be	g.chr2:209113113G>A	ENST00000415913.1	-	4	775	c.394C>T	c.(394-396)Cgt>Tgt	p.R132C	IDH1_ENST00000345146.2_Missense_Mutation_p.R132C|IDH1_ENST00000446179.1_Missense_Mutation_p.R132C	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		TAAGCATGACGACCTATGATG	0.398			Mis		gliobastoma								18	32					0	0	1	0	0	A	209113113	G	A	209113113	3	1	45	1	0	0	0	0	1	0	0	0	7538	1058	37	1	878	1	IDH1	2	209113113	Missense_Mutation	SNP	G	TCGA-DB-A64S-01A-11D-A29Q-08		209113113	34086260	1	1918											
EMCN	51705	broad.mit.edu	37	4	101331483	101331483	+	Missense_Mutation	SNP	T	T	C			TCGA-DB-A64S-01A-11D-A29Q-08	TCGA-DB-A64S-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e7742b-cbce-4c9b-b14f-650885317983	aebdc4a8-e540-47d7-8ffb-a79d833f12be	g.chr4:101331483T>C	ENST00000296420.4	-	11	959	c.781A>G	c.(781-783)Aac>Gac	p.N261D	EMCN_ENST00000305864.3_Missense_Mutation_p.N178D|EMCN_ENST00000511970.1_Missense_Mutation_p.N248D	NM_001159694.1|NM_016242.3	NP_001153166.1|NP_057326.2	Q9ULC0	MUCEN_HUMAN	endomucin	261						extracellular region|integral to membrane|plasma membrane				endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(123;2.49e-08)		AGCTGTCAGTTCTTGGTTTTT	0.388													21	47					0	0	1	0	0	C	101331483	T	C	101331483	3	2	45	1	0	0	0	0	1	0	0	0	5114	1783	62	3	8	3	EMCN	4	101331483	Missense_Mutation	SNP	T	TCGA-DB-A64S-01A-11D-A29Q-08		101331483	89822793	2	1919											
FNIP2	57600	broad.mit.edu	37	4	159772589	159772589	+	Missense_Mutation	SNP	A	A	G			TCGA-DB-A64S-01A-11D-A29Q-08	TCGA-DB-A64S-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e7742b-cbce-4c9b-b14f-650885317983	aebdc4a8-e540-47d7-8ffb-a79d833f12be	g.chr4:159772589A>G	ENST00000264433.6	+	8	919	c.844A>G	c.(844-846)Atc>Gtc	p.I282V	FNIP2_ENST00000379346.3_Missense_Mutation_p.I305V	NM_020840.1	NP_065891.1	Q9P278	FNIP2_HUMAN	folliculin interacting protein 2	282					DNA damage response, signal transduction resulting in induction of apoptosis|protein phosphorylation|regulation of protein phosphorylation	cytoplasm	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	9	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.00936)		GGAAAATGGCATCATCCCAAG	0.488													5	154					0	0	1	0	0	G	159772589	A	G	159772589	3	3	45	1	0	0	0	0	1	0	0	0	6009	217	8	3	874	3	FNIP2	4	159772589	Missense_Mutation	SNP	A	TCGA-DB-A64S-01A-11D-A29Q-08	58441106	159772589	31381687	3	1920											
SLC6A19	340024	broad.mit.edu	37	5	1214087	1214087	+	Missense_Mutation	SNP	C	C	A	rs148139045	by1000genomes	TCGA-DB-A64S-01A-11D-A29Q-08	TCGA-DB-A64S-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e7742b-cbce-4c9b-b14f-650885317983	aebdc4a8-e540-47d7-8ffb-a79d833f12be	g.chr5:1214087C>A	ENST00000304460.10	+	6	850	c.794C>A	c.(793-795)cCg>cAg	p.P265Q		NM_001003841.2	NP_001003841.1	Q695T7	S6A19_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 19	265					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			CTGGCCCAGCCGGACACCTGG	0.657													4	117					0.000602214	0.000643746	1	1	0	A	1214087	C	A	1214087	3	1	45	1	0	0	0	0	1	0	0	0	14737	652	23	5	816	5	SLC6A19	5	1214087	Missense_Mutation	SNP	C	TCGA-DB-A64S-01A-11D-A29Q-08		1214087	179701173	4	1921											
HCN1	348980	broad.mit.edu	37	5	45262043	45262043	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DB-A64S-01A-11D-A29Q-08	TCGA-DB-A64S-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e7742b-cbce-4c9b-b14f-650885317983	aebdc4a8-e540-47d7-8ffb-a79d833f12be	g.chr5:45262043G>A	ENST00000303230.4	-	8	2710	c.2653C>T	c.(2653-2655)Cga>Tga	p.R885*		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	885						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						GAAGCAAATCGTGGCTTTTCT	0.453													44	77					0	0	1	0	0	A	45262043	G	A	45262043	4	1	45	1	0	0	0	0	0	1	0	0	7037	1153	40	1	23	1	HCN1	5	45262043	Nonsense_Mutation	SNP	G	TCGA-DB-A64S-01A-11D-A29Q-08	44047956	45262043	135653217	5	1922											
MUC21	394263	broad.mit.edu	37	6	30954979	30954979	+	Missense_Mutation	SNP	A	A	G			TCGA-DB-A64S-01A-11D-A29Q-08	TCGA-DB-A64S-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e7742b-cbce-4c9b-b14f-650885317983	aebdc4a8-e540-47d7-8ffb-a79d833f12be	g.chr6:30954979A>G	ENST00000376296.3	+	2	1268	c.1027A>G	c.(1027-1029)Agc>Ggc	p.S343G	MUC21_ENST00000486149.2_5'UTR	NM_001010909.2	NP_001010909.2	Q5SSG8	MUC21_HUMAN	mucin 21, cell surface associated	343	28 X 15 AA approximate tandem repeats.|Ser-rich.			S -> N (in Ref. 3; AAQ88781 and 4; CAQ08321).		integral to membrane|plasma membrane				NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						CAGTGGGGCCAGCACAGCCAC	0.637													6	356					0	0	1	0	0	G	30954979	A	G	30954979	3	3	45	1	0	0	0	0	1	0	0	0	10025	188	7	3	1033	3	MUC21	6	30954979	Missense_Mutation	SNP	A	TCGA-DB-A64S-01A-11D-A29Q-08		30954979	140160088	6	1923											
DST	667	broad.mit.edu	37	6	56483617	56483617	+	Missense_Mutation	SNP	G	G	C			TCGA-DB-A64S-01A-11D-A29Q-08	TCGA-DB-A64S-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e7742b-cbce-4c9b-b14f-650885317983	aebdc4a8-e540-47d7-8ffb-a79d833f12be	g.chr6:56483617G>C	ENST00000370765.6	-	23	5322	c.5215C>G	c.(5215-5217)Ctg>Gtg	p.L1739V	DST_ENST00000446842.2_Intron|DST_ENST00000361203.3_Intron|DST_ENST00000370769.4_Intron|DST_ENST00000312431.6_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000370754.5_Intron	NM_001723.5	NP_001714.1	Q03001	DYST_HUMAN	dystonin	1118					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TCCTGAAACAGAACCATCTTT	0.373													57	106					0	0	1	0	0	C	56483617	G	C	56483617	3	2	45	1	0	0	0	0	1	0	0	0	4809	933	33	4	15188	4	DST	6	56483617	Missense_Mutation	SNP	G	TCGA-DB-A64S-01A-11D-A29Q-08	25528638	56483617	114631450	7	1924											
ELN	2006	broad.mit.edu	37	7	73474792	73474792	+	Missense_Mutation	SNP	G	G	C			TCGA-DB-A64S-01A-11D-A29Q-08	TCGA-DB-A64S-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e7742b-cbce-4c9b-b14f-650885317983	aebdc4a8-e540-47d7-8ffb-a79d833f12be	g.chr7:73474792G>C	ENST00000252034.7	+	25	2107	c.1708G>C	c.(1708-1710)Gga>Cga	p.G570R	ELN_ENST00000357036.5_Missense_Mutation_p.G575R|ELN_ENST00000458204.1_Missense_Mutation_p.G560R|ELN_ENST00000358929.4_Missense_Mutation_p.G605R|ELN_ENST00000445912.1_Missense_Mutation_p.G570R|ELN_ENST00000380575.4_Missense_Mutation_p.G541R|ELN_ENST00000380562.4_Missense_Mutation_p.G576R|ELN_ENST00000380584.4_Missense_Mutation_p.G522R|ELN_ENST00000414324.1_Missense_Mutation_p.G546R|ELN_ENST00000380553.4_Missense_Mutation_p.G434R|ELN_ENST00000320492.7_Missense_Mutation_p.G489R|ELN_ENST00000380576.5_Missense_Mutation_p.G551R|ELN_ENST00000429192.1_Missense_Mutation_p.G556R|ELN_ENST00000320399.6_Missense_Mutation_p.G570R|CTB-51J22.1_ENST00000435932.1_RNA	NM_000501.2|NM_001278915.1	NP_000492.2|NP_001265844.1	P15502	ELN_HUMAN	elastin	599	Ala-rich.				blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange	proteinaceous extracellular matrix	extracellular matrix constituent conferring elasticity|protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)			Rofecoxib(DB00533)	TGGTGTTCCTGGACTTGGAGT	0.622			T	PAX5	B-ALL		"Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"						5	101					0	0	1	0	0	C	73474792	G	C	73474792	3	2	45	1	0	0	0	0	1	0	0	0	5099	1349	47	5	1821	5	ELN	7	73474792	Missense_Mutation	SNP	G	TCGA-DB-A64S-01A-11D-A29Q-08		73474792	85663871	8	1925											
CDHR5	53841	broad.mit.edu	37	11	618812	618812	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A64S-01A-11D-A29Q-08	TCGA-DB-A64S-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e7742b-cbce-4c9b-b14f-650885317983	aebdc4a8-e540-47d7-8ffb-a79d833f12be	g.chr11:618812G>A	ENST00000358353.3	-	14	2069	c.1747C>T	c.(1747-1749)Ccc>Tcc	p.P583S	CDHR5_ENST00000349570.7_Intron|CDHR5_ENST00000397542.2_Missense_Mutation_p.P583S			Q9HBB8	CDHR5_HUMAN	cadherin-related family member 5	583	4 X 31 AA approximate tandem repeats.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	23						ATACTGGGGGGCATCGGCTGA	0.687													4	206					0	0	1	0	0	A	618812	G	A	618812	3	1	45	1	0	0	0	0	1	0	0	0	3144	1203	42	2	802	2	CDHR5	11	618812	Missense_Mutation	SNP	G	TCGA-DB-A64S-01A-11D-A29Q-08		618812	134387704	9	1926											
RIMBP2	23504	broad.mit.edu	37	12	130919389	130919389	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A64S-01A-11D-A29Q-08	TCGA-DB-A64S-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e7742b-cbce-4c9b-b14f-650885317983	aebdc4a8-e540-47d7-8ffb-a79d833f12be	g.chr12:130919389C>T	ENST00000261655.4	-	11	2255	c.2092G>A	c.(2092-2094)Gcg>Acg	p.A698T	RIMBP2_ENST00000536002.1_Missense_Mutation_p.A606T|RIMBP2_ENST00000535703.1_Missense_Mutation_p.A606T	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	698						cell junction|synapse				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		TACTGCCCCGCGCTGCTTCTC	0.592													16	80					0	0	1	0	0	T	130919389	C	T	130919389	3	4	45	1	0	0	0	0	1	0	0	0	13413	768	27	1	1102	1	RIMBP2	12	130919389	Missense_Mutation	SNP	C	TCGA-DB-A64S-01A-11D-A29Q-08		130919389	2932506	10	1927											
TP53	7157	broad.mit.edu	37	17	7578268	7578268	+	Missense_Mutation	SNP	A	A	C			TCGA-DB-A64S-01A-11D-A29Q-08	TCGA-DB-A64S-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e7742b-cbce-4c9b-b14f-650885317983	aebdc4a8-e540-47d7-8ffb-a79d833f12be	g.chr17:7578268A>C	ENST00000420246.2	-	6	713	c.581T>G	c.(580-582)cTt>cGt	p.L194R	TP53_ENST00000269305.4_Missense_Mutation_p.L194R|TP53_ENST00000445888.2_Missense_Mutation_p.L194R|TP53_ENST00000574684.1_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.L194R|TP53_ENST00000359597.4_Missense_Mutation_p.L194R|TP53_ENST00000413465.2_Missense_Mutation_p.L194R	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	194	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		L -> F (in sporadic cancers; somatic mutation).|L -> H (in sporadic cancers; somatic mutation).|L -> I (in sporadic cancers; somatic mutation).|L -> P (in sporadic cancers; somatic mutation).|L -> R (in sporadic cancers; somatic mutation).|L -> V (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.L194R(47)|p.L194P(8)|p.L194H(8)|p.0?(8)|p.?(6)|p.L101R(5)|p.L62R(5)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.P191fs*53(2)|p.P191fs*6(1)|p.H193_I195delHLI(1)|p.P59_E66>Q(1)|p.L194fs*15(1)|p.L194fs*14(1)|p.L101H(1)|p.L194fs*52(1)|p.P98_E105>Q(1)|p.A189fs*53(1)|p.L62H(1)|p.I195fs*52(1)|p.H193_I195>AP(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)		CACTCGGATAAGATGCTGAGG	0.552		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)			19	34					0	0	1	0	0	C	7578268	A	C	7578268	3	2	45	1	0	0	0	0	1	0	0	0	16442	72	3	5	713	5	TP53	17	7578268	Missense_Mutation	SNP	A	TCGA-DB-A64S-01A-11D-A29Q-08		7578268	73616942	11	1928											
CD300LB	124599	broad.mit.edu	37	17	72522000	72522000	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A64S-01A-11D-A29Q-08	TCGA-DB-A64S-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e7742b-cbce-4c9b-b14f-650885317983	aebdc4a8-e540-47d7-8ffb-a79d833f12be	g.chr17:72522000G>A	ENST00000392621.1	-	2	372	c.368C>T	c.(367-369)aCg>aTg	p.T123M	CD300LB_ENST00000314401.3_Missense_Mutation_p.T123M	NM_174892.2	NP_777552	A8K4G0	CLM7_HUMAN	CD300 molecule-like family member b	86						integral to membrane|plasma membrane	receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(1)	21						CACAGTGAACGTGCGGTCTTT	0.522													11	142					0	0	1	0	0	A	72522000	G	A	72522000	3	1	45	1	0	0	0	0	1	0	0	0	3021	1145	40	1	360	1	CD300LB	17	72522000	Missense_Mutation	SNP	G	TCGA-DB-A64S-01A-11D-A29Q-08	64943732	72522000	8673210	12	1929											
KDELR1	10945	broad.mit.edu	37	19	48887586	48887586	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A64S-01A-11D-A29Q-08	TCGA-DB-A64S-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e7742b-cbce-4c9b-b14f-650885317983	aebdc4a8-e540-47d7-8ffb-a79d833f12be	g.chr19:48887586G>A	ENST00000597017.1	-	3	744	c.319C>T	c.(319-321)Cgc>Tgc	p.R107C	KDELR1_ENST00000330720.2_Missense_Mutation_p.R169C			P24390	ERD21_HUMAN	KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 1	169					intracellular protein transport|protein retention in ER lumen|vesicle-mediated transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment|integral to membrane|membrane fraction	KDEL sequence binding|protein binding|receptor activity			NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|pancreas(1)|urinary_tract(1)	11		all_epithelial(76;2.48e-06)|all_lung(116;5.76e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Prostate(7;0.122)|Breast(70;0.203)		all cancers(93;0.000114)|OV - Ovarian serous cystadenocarcinoma(262;0.000136)|Epithelial(262;0.01)|GBM - Glioblastoma multiforme(486;0.0145)		AAATGGTAGCGCCAGATCCAG	0.542													3	29					0	0	1	0	0	A	48887586	G	A	48887586	3	1	45	1	0	0	0	0	1	0	0	0	8163	1087	38	1	141	1	KDELR1	19	48887586	Missense_Mutation	SNP	G	TCGA-DB-A64S-01A-11D-A29Q-08		48887586	10241397	13	1930											
FAM47A	158724	broad.mit.edu	37	X	34148780	34148780	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A64S-01A-11D-A29Q-08	TCGA-DB-A64S-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e7742b-cbce-4c9b-b14f-650885317983	aebdc4a8-e540-47d7-8ffb-a79d833f12be	g.chrX:34148780C>T	ENST00000346193.3	-	1	1667	c.1616G>A	c.(1615-1617)cGa>cAa	p.R539Q		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	539										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						ACTGGACACTCGACGAGTCTT	0.642													40	11					0	0	1	0	0	T	34148780	C	T	34148780	3	4	45	1	0	0	0	0	1	0	0	0	5605	884	31	1	763	1	FAM47A	23	34148780	Missense_Mutation	SNP	C	TCGA-DB-A64S-01A-11D-A29Q-08		34148780	121121780	14	1931											
ATRX	546	broad.mit.edu	37	X	76888813	76888813	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DB-A64S-01A-11D-A29Q-08	TCGA-DB-A64S-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e7742b-cbce-4c9b-b14f-650885317983	aebdc4a8-e540-47d7-8ffb-a79d833f12be	g.chrX:76888813C>T	ENST00000373344.5	-	19	5230	c.5016G>A	c.(5014-5016)tgG>tgA	p.W1672*	ATRX_ENST00000395603.3_Nonsense_Mutation_p.W1634*|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1672	Helicase ATP-binding.				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)	CATCTTCTTGCCACCTCTGCA	0.373			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						68	63					0	0	1	0	0	T	76888813	C	T	76888813	4	4	45	1	0	0	0	0	0	1	0	0	1206	740	26	2	2530	2	ATRX	23	76888813	Nonsense_Mutation	SNP	C	TCGA-DB-A64S-01A-11D-A29Q-08	42740033	76888813	78381747	15	1932											
ATRX	546	broad.mit.edu	37	X	76939874	76939874	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DB-A64S-01A-11D-A29Q-08	TCGA-DB-A64S-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e7742b-cbce-4c9b-b14f-650885317983	aebdc4a8-e540-47d7-8ffb-a79d833f12be	g.chrX:76939874G>A	ENST00000373344.5	-	9	1088	c.874C>T	c.(874-876)Cag>Tag	p.Q292*	ATRX_ENST00000395603.3_Nonsense_Mutation_p.Q254*|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	292	ADD.				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)	TTATTTTGCTGCAACAACTGT	0.343			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						9	38					0	0	1	0	0	A	76939874	G	A	76939874	4	1	45	1	0	0	0	0	0	1	0	0	1206	1328	46	2	6712	2	ATRX	23	76939874	Nonsense_Mutation	SNP	G	TCGA-DB-A64S-01A-11D-A29Q-08	51061	76939874	78330686	16	1933	6	2									
ATRX	546	broad.mit.edu	37	X	76939882	76939890	+	In_Frame_Del	DEL	TGTTCTAAA	TGTTCTAAA	-			TCGA-DB-A64S-01A-11D-A29Q-08	TCGA-DB-A64S-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e7742b-cbce-4c9b-b14f-650885317983	aebdc4a8-e540-47d7-8ffb-a79d833f12be	g.chrX:76939882_76939890delTGTTCTAAA	ENST00000373344.5	-	9	1072_1080	c.858_866delTTTAGAACA	c.(856-867)aatttagaacag>aag	p.286_289NLEQ>K	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_In_Frame_Del_p.248_251NLEQ>K	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	286	ADD.				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)	CTGCAACAACTGTTCTAAATTCTCAAATA	0.354			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						15	56	---	---	---	---						-	76939890	TGTTCTAAA	-	76939882	7	5	45	1	0	1	0	1	0	0	0	0	1206	1580	55	0	6720	0	ATRX	23	76939882	In_Frame_Del	DEL	TGTTCTAAA	TCGA-DB-A64S-01A-11D-A29Q-08	8	76939882	78330678	17	1934	6	2									
EMILIN1	11117	broad.mit.edu	37	2	27305238	27305238	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A64U-01A-11D-A29Q-08	TCGA-DB-A64U-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c389c4d-e9d7-4471-922e-ae545d0d9b65	4e28b253-e110-458f-b4f3-aa7de270d04a	g.chr2:27305238G>A	ENST00000380320.4	+	4	1298	c.799G>A	c.(799-801)Ggc>Agc	p.G267S		NM_007046.3	NP_008977	Q9Y6C2	EMIL1_HUMAN	elastin microfibril interfacer 1	267					cell adhesion	collagen				breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(1)|lung(14)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	26	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCATCATGGCGGCAGCAGCAG	0.672													18	42					0	0	1	0	0	A	27305238	G	A	27305238	3	1	46	1	0	0	0	0	1	0	0	0	5121	1116	39	1	813	1	EMILIN1	2	27305238	Missense_Mutation	SNP	G	TCGA-DB-A64U-01A-11D-A29Q-08		27305238	215894135	1	1935											
FBXO11	80204	broad.mit.edu	37	2	48035296	48035297	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-DB-A64U-01A-11D-A29Q-08	TCGA-DB-A64U-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c389c4d-e9d7-4471-922e-ae545d0d9b65	4e28b253-e110-458f-b4f3-aa7de270d04a	g.chr2:48035296_48035297delAG	ENST00000403359.3	-	23	2816_2817	c.2744_2745delCT	c.(2743-2745)tctfs	p.S915fs	FBXO11_ENST00000316377.4_Frame_Shift_Del_p.S831fs|FBXO11_ENST00000405808.1_Intron|FBXO11_ENST00000402508.1_Frame_Shift_Del_p.S831fs|FBXO11_ENST00000434523.2_Frame_Shift_Del_p.S339fs|MSH6_ENST00000234420.5_3'UTR	NM_001190274.1	NP_001177203.1	Q86XK2	FBX11_HUMAN	F-box protein 11	915					ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|ubiquitin ligase complex	protein binding|protein-arginine N-methyltransferase activity|ubiquitin-protein ligase activity|zinc ion binding	p.0?(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	26		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TAGGTGGAGCAGAGTCATATAG	0.381			"Mis, F, D"		DLBCL								12	139	---	---	---	---						-	48035297	AG	-	48035296	7	5	46	1	0	1	0	1	0	0	0	0	5760	175	7	0	42	0	FBXO11	2	48035296	Frame_Shift_Del	DEL	AG	TCGA-DB-A64U-01A-11D-A29Q-08	20730058	48035296	195164077	2	1936											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-DB-A64U-01A-11D-A29Q-08	TCGA-DB-A64U-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c389c4d-e9d7-4471-922e-ae545d0d9b65	4e28b253-e110-458f-b4f3-aa7de270d04a	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	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								8	38					0	0	1	0	0	T	209113112	C	T	209113112	3	4	46	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-DB-A64U-01A-11D-A29Q-08	161077816	209113112	34086261	3	1937											
PDE6B	5158	broad.mit.edu	37	4	663881	663881	+	Silent	SNP	C	C	A			TCGA-DB-A64U-01A-11D-A29Q-08	TCGA-DB-A64U-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c389c4d-e9d7-4471-922e-ae545d0d9b65	4e28b253-e110-458f-b4f3-aa7de270d04a	g.chr4:663881C>A	ENST00000255622.6	+	22	2590	c.2547C>A	c.(2545-2547)acC>acA	p.T849T	PDE6B_ENST00000496514.1_Silent_p.T850T|PDE6B_ENST00000429163.2_Silent_p.T571T	NM_000283.3|NM_001145291.1	NP_000274.2|NP_001138763	P35913	PDE6B_HUMAN	phosphodiesterase 6B, cGMP-specific, rod, beta	850					cytosolic calcium ion homeostasis|GMP metabolic process|phototransduction, visible light|platelet activation|visual perception	cytosol|membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30						AGTCTTCAACCTGCTGTATCC	0.532													38	112					4.92203e-23	5.35003e-23	1	1	0	A	663881	C	A	663881	2	1	46	1	0	0	0	0	0	0	0	1	11693	668	24	4		4	PDE6B	4	663881	Silent	SNP	C	TCGA-DB-A64U-01A-11D-A29Q-08		663881	190490395	4	1938											
C6orf136	221545	broad.mit.edu	37	6	30618837	30618837	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DB-A64U-01A-11D-A29Q-08	TCGA-DB-A64U-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c389c4d-e9d7-4471-922e-ae545d0d9b65	4e28b253-e110-458f-b4f3-aa7de270d04a	g.chr6:30618837G>T	ENST00000293604.6	+	3	1277	c.1084G>T	c.(1084-1086)Gag>Tag	p.E362*	C6orf136_ENST00000376471.4_Nonsense_Mutation_p.E47*|C6orf136_ENST00000376473.5_Nonsense_Mutation_p.E181*|C6orf136_ENST00000528347.2_Nonsense_Mutation_p.E38*	NM_001161376.1	NP_001154848.1	Q5SQH8	CF136_HUMAN	chromosome 6 open reading frame 136	181										endometrium(1)|large_intestine(2)|lung(6)|ovary(1)	10						ATTCATCAATGAGATCCTCAA	0.488													4	93					1	1	1	1	0	T	30618837	G	T	30618837	4	4	46	1	0	0	0	0	0	1	0	0	2345	1291	45	5	1094	5	C6orf136	6	30618837	Nonsense_Mutation	SNP	G	TCGA-DB-A64U-01A-11D-A29Q-08		30618837	140496230	5	1939											
EHMT2	10919	broad.mit.edu	37	6	31848860	31848860	+	Silent	SNP	C	C	T			TCGA-DB-A64U-01A-11D-A29Q-08	TCGA-DB-A64U-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c389c4d-e9d7-4471-922e-ae545d0d9b65	4e28b253-e110-458f-b4f3-aa7de270d04a	g.chr6:31848860C>T	ENST00000395728.3	-	25	3377	c.3378G>A	c.(3376-3378)ggG>ggA	p.G1126G	EHMT2_ENST00000480912.1_5'UTR|EHMT2_ENST00000375528.4_Silent_p.G1092G|EHMT2_ENST00000375530.4_Silent_p.G1035G|EHMT2_ENST00000375537.4_Silent_p.G1069G			Q96KQ7	EHMT2_HUMAN	euchromatic histone-lysine N-methyltransferase 2	1069	SET.				DNA methylation|peptidyl-lysine dimethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	21						AGATCAGCTCCCCGACATACC	0.532													21	60					0	0	1	0	0	T	31848860	C	T	31848860	2	4	46	1	0	0	0	0	0	0	0	1	5010	610	22	2		2	EHMT2	6	31848860	Silent	SNP	C	TCGA-DB-A64U-01A-11D-A29Q-08	1230023	31848860	139266207	6	1940											
SNX14	57231	broad.mit.edu	37	6	86237978	86237978	+	Splice_Site	SNP	A	A	G			TCGA-DB-A64U-01A-11D-A29Q-08	TCGA-DB-A64U-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c389c4d-e9d7-4471-922e-ae545d0d9b65	4e28b253-e110-458f-b4f3-aa7de270d04a	g.chr6:86237978A>G	ENST00000314673.3	-	20	2172		c.e20+1		SNX14_ENST00000508980.1_Splice_Site|SNX14_ENST00000513865.1_Intron|SNX14_ENST00000346348.3_Splice_Site|SNX14_ENST00000505648.1_Splice_Site|SNX14_ENST00000369627.2_Splice_Site	NM_153816.3	NP_722523.1	Q9Y5W7	SNX14_HUMAN	sorting nexin 14						cell communication|protein transport	integral to membrane	phosphatidylinositol binding|signal transducer activity			NS(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(11)|skin(1)	22		all_cancers(76;4.83e-07)|Acute lymphoblastic leukemia(125;3.3e-08)|Prostate(29;2.55e-07)|all_hematologic(105;3.66e-05)|all_epithelial(107;0.000695)|Lung NSC(302;0.197)|all_lung(197;0.24)		BRCA - Breast invasive adenocarcinoma(108;0.0423)		TTGATGTTATACCTGTAGATA	0.343													7	70					0	0	1	0	0	G	86237978	A	G	86237978	5	3	46	1	0	0	0	0	0	0	1	0	14939	405	14	3	883	3	SNX14	6	86237978	Splice_Site	SNP	A	TCGA-DB-A64U-01A-11D-A29Q-08	54389118	86237978	84877089	7	1941											
SERAC1	84947	broad.mit.edu	37	6	158537270	158537270	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DB-A64U-01A-11D-A29Q-08	TCGA-DB-A64U-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c389c4d-e9d7-4471-922e-ae545d0d9b65	4e28b253-e110-458f-b4f3-aa7de270d04a	g.chr6:158537270delC	ENST00000367102.2	-	15	1633	c.1492delG	c.(1492-1494)gagfs	p.E498fs	SERAC1_ENST00000367104.3_Frame_Shift_Del_p.R483fs|SERAC1_ENST00000367101.1_Frame_Shift_Del_p.E498fs			Q96JX3	SRAC1_HUMAN	serine active site containing 1	0					GPI anchor metabolic process|intracellular protein transport	integral to membrane|intrinsic to endoplasmic reticulum membrane	binding|hydrolase activity, acting on ester bonds			endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	15		Breast(66;0.00519)|Ovarian(120;0.123)|Prostate(117;0.178)		OV - Ovarian serous cystadenocarcinoma(65;1.37e-18)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)		ACCAGCAGCTCTGAGCTTCCT	0.448													25	39	---	---	---	---						-	158537270	C	-	158537270	7	5	46	1	0	1	0	1	0	0	0	0	14128	913	32	0	532	0	SERAC1	6	158537270	Frame_Shift_Del	DEL	C	TCGA-DB-A64U-01A-11D-A29Q-08	72299292	158537270	12577797	8	1942											
SSPO	23145	broad.mit.edu	37	7	149530949	149530949	+	RNA	SNP	C	C	T			TCGA-DB-A64U-01A-11D-A29Q-08	TCGA-DB-A64U-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c389c4d-e9d7-4471-922e-ae545d0d9b65	4e28b253-e110-458f-b4f3-aa7de270d04a	g.chr7:149530949C>T	ENST00000378016.2	+	0	15478							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CACAGCTGTCCCTCTTGTGAT	0.577													19	27					0	0	1	0	0	T	149530949	C	T	149530949	1	4	46	0	1	0	0	0	0	0	0	0	15245	638	22	2		2	SSPO	7	149530949	RNA	SNP	C	TCGA-DB-A64U-01A-11D-A29Q-08		149530949	9607714	9	1943											
ZW10	9183	broad.mit.edu	37	11	113608372	113608372	+	Silent	SNP	C	C	A			TCGA-DB-A64U-01A-11D-A29Q-08	TCGA-DB-A64U-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c389c4d-e9d7-4471-922e-ae545d0d9b65	4e28b253-e110-458f-b4f3-aa7de270d04a	g.chr11:113608372C>A	ENST00000200135.3	-	14	2082	c.1938G>T	c.(1936-1938)gtG>gtT	p.V646V		NM_004724.3	NP_004715.1	O43264	ZW10_HUMAN	zw10 kinetochore protein	646					cell division|ER to Golgi vesicle-mediated transport|establishment of mitotic spindle orientation|meiosis|mitotic cell cycle checkpoint|mitotic metaphase plate congression|mitotic prometaphase|protein complex assembly|protein localization to kinetochore|protein transport|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|endoplasmic reticulum membrane|kinetochore microtubule|nucleus|spindle pole	centromeric DNA binding|protein binding	p.V646V(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	18		all_cancers(61;3.84e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000237)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.94e-06)|Epithelial(105;0.000103)|all cancers(92;0.000786)		AATATATATTCACTGGCAGGA	0.418													72	33					1.49723e-40	1.7014e-40	1	1	0	A	113608372	C	A	113608372	2	1	46	1	0	0	0	0	0	0	0	1	18287	813	29	5		5	ZW10	11	113608372	Silent	SNP	C	TCGA-DB-A64U-01A-11D-A29Q-08		113608372	21398144	10	1944											
EFCAB4B	84766	broad.mit.edu	37	12	3788091	3788091	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A64U-01A-11D-A29Q-08	TCGA-DB-A64U-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c389c4d-e9d7-4471-922e-ae545d0d9b65	4e28b253-e110-458f-b4f3-aa7de270d04a	g.chr12:3788091C>T	ENST00000440314.2	-	6	987	c.514G>A	c.(514-516)Gtg>Atg	p.V172M	EFCAB4B_ENST00000444507.1_Missense_Mutation_p.V172M|EFCAB4B_ENST00000252322.1_Missense_Mutation_p.V172M	NM_001144958.1	NP_001138430.1	Q9BSW2	EFC4B_HUMAN	EF-hand calcium binding domain 4B	172					activation of store-operated calcium channel activity|store-operated calcium entry	cytoplasm	calcium ion binding|protein binding			breast(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00287)|COAD - Colon adenocarcinoma(12;0.0264)			TCTTCCAACACCTTTTGGGCT	0.498													6	109					0	0	1	0	0	T	3788091	C	T	3788091	3	4	46	1	0	0	0	0	1	0	0	0	4963	507	18	2	1933	2	EFCAB4B	12	3788091	Missense_Mutation	SNP	C	TCGA-DB-A64U-01A-11D-A29Q-08		3788091	130063804	11	1945											
PDE3A	5139	broad.mit.edu	37	12	20786709	20786709	+	Missense_Mutation	SNP	A	A	G	rs113434458		TCGA-DB-A64U-01A-11D-A29Q-08	TCGA-DB-A64U-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c389c4d-e9d7-4471-922e-ae545d0d9b65	4e28b253-e110-458f-b4f3-aa7de270d04a	g.chr12:20786709A>G	ENST00000359062.3	+	7	1883	c.1843A>G	c.(1843-1845)Aca>Gca	p.T615A	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	615					lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	ACCAAGTAGAACAGGTAATTC	0.413													12	28					0	0	1	0	0	G	20786709	A	G	20786709	3	3	46	1	0	0	0	0	1	0	0	0	11684	43	2	3	1869	3	PDE3A	12	20786709	Missense_Mutation	SNP	A	TCGA-DB-A64U-01A-11D-A29Q-08	16998618	20786709	113065186	12	1946											
HSPB8	26353	broad.mit.edu	37	12	119617317	119617317	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A64U-01A-11D-A29Q-08	TCGA-DB-A64U-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c389c4d-e9d7-4471-922e-ae545d0d9b65	4e28b253-e110-458f-b4f3-aa7de270d04a	g.chr12:119617317G>A	ENST00000281938.2	+	1	871	c.200G>A	c.(199-201)gGc>gAc	p.G67D		NM_014365.2	NP_055180.1	Q9UJY1	HSPB8_HUMAN	heat shock 22kDa protein 8	67			G -> S (in a glioblastoma multiforme sample; somatic mutation).		cell death|response to heat	cytoplasm|nucleus	identical protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(9)|skin(1)	14	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CTAAGGTCGGGCATGGTGCCC	0.692													4	121					0	0	1	0	0	A	119617317	G	A	119617317	3	1	46	1	0	0	0	0	1	0	0	0	7467	1203	42	2	202	2	HSPB8	12	119617317	Missense_Mutation	SNP	G	TCGA-DB-A64U-01A-11D-A29Q-08	98830608	119617317	14234578	13	1947											
KRTAP4-2	85291	broad.mit.edu	37	17	39334308	39334308	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A64U-01A-11D-A29Q-08	TCGA-DB-A64U-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c389c4d-e9d7-4471-922e-ae545d0d9b65	4e28b253-e110-458f-b4f3-aa7de270d04a	g.chr17:39334308G>A	ENST00000377726.2	-	1	152	c.109C>T	c.(109-111)Cgc>Tgc	p.R37C		NM_033062.3	NP_149051	Q9BYR5	KRA42_HUMAN	keratin associated protein 4-2	37	20 X 5 AA repeats OF C-C-[GRQVS]-[SPT]- [VSTQ].					keratin filament				kidney(2)|lung(4)|upper_aerodigestive_tract(1)	7		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			CAGCTGGGGCGGCAGCAGGTG	0.657													5	208					0	0	1	0	0	A	39334308	G	A	39334308	3	1	46	1	0	0	0	0	1	0	0	0	8594	1116	39	1	305	1	KRTAP4-2	17	39334308	Missense_Mutation	SNP	G	TCGA-DB-A64U-01A-11D-A29Q-08		39334308	41860902	14	1948											
SEC14L1	6397	broad.mit.edu	37	17	75190803	75190803	+	Silent	SNP	A	A	G			TCGA-DB-A64U-01A-11D-A29Q-08	TCGA-DB-A64U-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c389c4d-e9d7-4471-922e-ae545d0d9b65	4e28b253-e110-458f-b4f3-aa7de270d04a	g.chr17:75190803A>G	ENST00000413679.2	+	7	822	c.519A>G	c.(517-519)gaA>gaG	p.E173E	SEC14L1_ENST00000443798.4_Silent_p.E173E|SEC14L1_ENST00000436233.4_Silent_p.E173E|SEC14L1_ENST00000585618.1_Silent_p.E173E|SEC14L1_ENST00000392476.2_Silent_p.E173E|SEC14L1_ENST00000430767.4_Silent_p.E173E|SEC14L1_ENST00000591437.1_Silent_p.E139E|SEC14L1_ENST00000431431.2_Silent_p.E139E	NM_001143998.1|NM_001143999.1|NM_003003.3	NP_001137470|NP_001137471|NP_002994	Q92503	S14L1_HUMAN	SEC14-like 1 (S. cerevisiae)	173	PRELI/MSF1.				transport	Golgi apparatus|integral to membrane	binding			NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(2)	31						TAGAAGAAGAAGGCATAACCT	0.423													15	105					0	0	1	0	0	G	75190803	A	G	75190803	2	3	46	1	0	0	0	0	0	0	0	1	14035	69	3	3		3	SEC14L1	17	75190803	Silent	SNP	A	TCGA-DB-A64U-01A-11D-A29Q-08	35856495	75190803	6004407	15	1949											
FSD1	79187	broad.mit.edu	37	19	4310577	4310577	+	Silent	SNP	A	A	G			TCGA-DB-A64U-01A-11D-A29Q-08	TCGA-DB-A64U-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c389c4d-e9d7-4471-922e-ae545d0d9b65	4e28b253-e110-458f-b4f3-aa7de270d04a	g.chr19:4310577A>G	ENST00000221856.6	+	6	621	c.474A>G	c.(472-474)gcA>gcG	p.A158A	FSD1_ENST00000598010.1_3'UTR|FSD1_ENST00000597590.1_Silent_p.A158A	NM_024333.2	NP_077309.1	Q9BTV5	FSD1_HUMAN	fibronectin type III and SPRY domain containing 1	158	COS.				cell division|mitosis	cleavage furrow|microtubule|microtubule organizing center|nucleus				breast(2)|cervix(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.034)|STAD - Stomach adenocarcinoma(1328;0.18)		TGCTACAGGCACTCAAGTTCC	0.587													37	74					0	0	1	0	0	G	4310577	A	G	4310577	2	3	46	1	0	0	0	0	0	0	0	1	6105	146	6	3		3	FSD1	19	4310577	Silent	SNP	A	TCGA-DB-A64U-01A-11D-A29Q-08		4310577	54818406	16	1950											
CIC	23152	broad.mit.edu	37	19	42799051	42799051	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A64U-01A-11D-A29Q-08	TCGA-DB-A64U-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c389c4d-e9d7-4471-922e-ae545d0d9b65	4e28b253-e110-458f-b4f3-aa7de270d04a	g.chr19:42799051G>A	ENST00000572681.2	+	21	7321	c.7253G>A	c.(7252-7254)cGt>cAt	p.R2418H	CIC_ENST00000575354.2_Missense_Mutation_p.R1512H|CIC_ENST00000160740.3_Missense_Mutation_p.R1510H			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	1512					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				TTGAAGATCCGTGAGGTGCGC	0.627			"Mis, F, S"		oligodendroglioma								34	38					0	0	1	0	0	A	42799051	G	A	42799051	3	1	46	1	0	0	0	0	1	0	0	0	3446	1145	40	1	4613	1	CIC	19	42799051	Missense_Mutation	SNP	G	TCGA-DB-A64U-01A-11D-A29Q-08	38488474	42799051	16329932	17	1951											
CTPS2	56474	broad.mit.edu	37	X	16608918	16608918	+	Nonstop_Mutation	SNP	A	A	T			TCGA-DB-A64U-01A-11D-A29Q-08	TCGA-DB-A64U-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c389c4d-e9d7-4471-922e-ae545d0d9b65	4e28b253-e110-458f-b4f3-aa7de270d04a	g.chrX:16608918A>T	ENST00000443824.1	-	18	2502	c.1759T>A	c.(1759-1761)Tga>Aga	p.*587R	CTPS2_ENST00000483053.1_5'UTR|CTPS2_ENST00000359276.4_Nonstop_Mutation_p.*587R|CTPS2_ENST00000380241.3_Nonstop_Mutation_p.*587R	NM_001144002.1	NP_001137474.1	Q9NRF8	PYRG2_HUMAN	CTP synthase 2	0					glutamine metabolic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine nucleotide biosynthetic process	cytosol	ATP binding|CTP synthase activity			breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	Hepatocellular(33;0.0997)					TATTCATTTCAGCTTATTTCC	0.413													15	36					0	0	1	0	0	T	16608918	A	T	16608918	4	4	46	1	0	0	0	0	0	0	0	0	4047	201	7	5	5	5	CTPS2	23	16608918	Nonstop_Mutation	SNP	A	TCGA-DB-A64U-01A-11D-A29Q-08		16608918	138661642	18	1952											
HIVEP3	59269	broad.mit.edu	37	1	42046935	42046935	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A64V-01A-11D-A29Q-08	TCGA-DB-A64V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd199b2-da43-4864-a647-3c36b2034f00	4047e4fc-39cc-4c30-bec3-fc4dffdf607c	g.chr1:42046935C>T	ENST00000372584.1	-	3	4548	c.3534G>A	c.(3532-3534)atG>atA	p.M1178I	HIVEP3_ENST00000429157.2_Missense_Mutation_p.M1178I|HIVEP3_ENST00000372583.1_Missense_Mutation_p.M1178I|HIVEP3_ENST00000247584.5_Missense_Mutation_p.M1178I	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	1178					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)				GAAGTGGGGGCATGGAGTATG	0.577													7	118					0	0	1	0	0	T	42046935	C	T	42046935	3	4	47	1	0	0	0	0	1	0	0	0	7229	710	25	2	3710	2	HIVEP3	1	42046935	Missense_Mutation	SNP	C	TCGA-DB-A64V-01A-11D-A29Q-08		42046935	207203686	1	1953											
FUBP1	8880	broad.mit.edu	37	1	78430553	78430553	+	Splice_Site	SNP	A	A	G			TCGA-DB-A64V-01A-11D-A29Q-08	TCGA-DB-A64V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd199b2-da43-4864-a647-3c36b2034f00	4047e4fc-39cc-4c30-bec3-fc4dffdf607c	g.chr1:78430553A>G	ENST00000370767.1	-	9	823		c.e9+1		FUBP1_ENST00000370768.2_Splice_Site|FUBP1_ENST00000436586.2_Splice_Site			Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1						transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						AGTTAAGTTTACTTGAACTTT	0.368			"F, N"		oligodendroglioma								5	46					0	0	1	0	0	G	78430553	A	G	78430553	5	3	47	1	0	0	0	0	0	0	1	0	6127	405	14	3	1245	3	FUBP1	1	78430553	Splice_Site	SNP	A	TCGA-DB-A64V-01A-11D-A29Q-08	36383618	78430553	170820068	2	1954											
FDPS	2224	broad.mit.edu	37	1	155279639	155279639	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DB-A64V-01A-11D-A29Q-08	TCGA-DB-A64V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd199b2-da43-4864-a647-3c36b2034f00	4047e4fc-39cc-4c30-bec3-fc4dffdf607c	g.chr1:155279639delG	ENST00000356657.6	+	2	221	c.59delG	c.(58-60)tggfs	p.W20fs	FDPS_ENST00000447866.1_Intron|FDPS_ENST00000487002.1_3'UTR|FDPS_ENST00000368356.4_Frame_Shift_Del_p.W20fs	NM_001135821.1	NP_001129293.1	P14324	FPPS_HUMAN	farnesyl diphosphate synthase	20					cholesterol biosynthetic process|interspecies interaction between organisms|isoprenoid biosynthetic process	cytosol|nucleus	dimethylallyltranstransferase activity|geranyltranstransferase activity|metal ion binding			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	10	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;2.03e-10)|all cancers(21;5.23e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)		Alendronate(DB00630)|Ibandronate(DB00710)|Pamidronate(DB00282)|Risedronate(DB00884)|Zoledronate(DB00399)	GCCCCCTACTGGGCACCCCGG	0.687													2	4	---	---	---	---						-	155279639	G	-	155279639	7	5	47	1	0	1	0	1	0	0	0	0	5836	1357	47	0	61	0	FDPS	1	155279639	Frame_Shift_Del	DEL	G	TCGA-DB-A64V-01A-11D-A29Q-08	76849086	155279639	93970982	3	1955											
OR10X1	128367	broad.mit.edu	37	1	158548933	158548933	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A64V-01A-11D-A29Q-08	TCGA-DB-A64V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd199b2-da43-4864-a647-3c36b2034f00	4047e4fc-39cc-4c30-bec3-fc4dffdf607c	g.chr1:158548933C>T	ENST00000368150.1	-	1	756	c.757G>A	c.(757-759)Gcc>Acc	p.A253T		NM_001004477.1	NP_001004477.1	Q8NGY0	O10X1_HUMAN	olfactory receptor, family 10, subfamily X, member 1 (gene/pseudogene)	253					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1)	37	all_hematologic(112;0.0378)					GTGGTGAAGGCCTTCTGCTTG	0.483													19	123					0	0	1	0	0	T	158548933	C	T	158548933	3	4	47	1	0	0	0	0	1	0	0	0	10970	739	26	2	218	2	OR10X1	1	158548933	Missense_Mutation	SNP	C	TCGA-DB-A64V-01A-11D-A29Q-08	3269294	158548933	90701688	4	1956											
POLR1A	25885	broad.mit.edu	37	2	86302160	86302160	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A64V-01A-11D-A29Q-08	TCGA-DB-A64V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd199b2-da43-4864-a647-3c36b2034f00	4047e4fc-39cc-4c30-bec3-fc4dffdf607c	g.chr2:86302160G>A	ENST00000263857.6	-	12	1982	c.1604C>T	c.(1603-1605)aCa>aTa	p.T535I	POLR1A_ENST00000409681.1_Missense_Mutation_p.T535I			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	535					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						CACAATTTTTGTCCCCTGGGG	0.632													3	12					0	0	1	0	0	A	86302160	G	A	86302160	3	1	47	1	0	0	0	0	1	0	0	0	12257	1377	48	2	3650	2	POLR1A	2	86302160	Missense_Mutation	SNP	G	TCGA-DB-A64V-01A-11D-A29Q-08		86302160	156897213	5	1957											
SNRNP200	23020	broad.mit.edu	37	2	96956065	96956065	+	Splice_Site	SNP	T	T	C			TCGA-DB-A64V-01A-11D-A29Q-08	TCGA-DB-A64V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd199b2-da43-4864-a647-3c36b2034f00	4047e4fc-39cc-4c30-bec3-fc4dffdf607c	g.chr2:96956065T>C	ENST00000323853.5	-	20	2818	c.2741A>G	c.(2740-2742)aAg>aGg	p.K914R	SNRNP200_ENST00000349783.5_Intron	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	914	Helicase C-terminal 1.					catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						CTCCCCTACCTTGGCATTCTG	0.532													18	128					0	0	1	0	0	C	96956065	T	C	96956065	5	2	47	1	0	0	0	0	0	0	1	0	14906	1623	56	3	3773	3	SNRNP200	2	96956065	Splice_Site	SNP	T	TCGA-DB-A64V-01A-11D-A29Q-08	10653905	96956065	146243308	6	1958											
TANC1	85461	broad.mit.edu	37	2	160075851	160075851	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A64V-01A-11D-A29Q-08	TCGA-DB-A64V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd199b2-da43-4864-a647-3c36b2034f00	4047e4fc-39cc-4c30-bec3-fc4dffdf607c	g.chr2:160075851G>A	ENST00000263635.6	+	21	3718	c.3481G>A	c.(3481-3483)Gtg>Atg	p.V1161M	TANC1_ENST00000454300.1_Missense_Mutation_p.V1055M	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	1161						cell junction|postsynaptic density|postsynaptic membrane	binding			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						CTTGAGCACCGTGGAATTCCT	0.522													4	114					0	0	1	0	0	A	160075851	G	A	160075851	3	1	47	1	0	0	0	0	1	0	0	0	15601	1145	40	1	3555	1	TANC1	2	160075851	Missense_Mutation	SNP	G	TCGA-DB-A64V-01A-11D-A29Q-08	63119786	160075851	83123522	7	1959											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-DB-A64V-01A-11D-A29Q-08	TCGA-DB-A64V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd199b2-da43-4864-a647-3c36b2034f00	4047e4fc-39cc-4c30-bec3-fc4dffdf607c	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	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								16	39					0	0	1	0	0	T	209113112	C	T	209113112	3	4	47	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-DB-A64V-01A-11D-A29Q-08	49037261	209113112	34086261	8	1960											
PIKFYVE	200576	broad.mit.edu	37	2	209169012	209169012	+	Missense_Mutation	SNP	A	A	G			TCGA-DB-A64V-01A-11D-A29Q-08	TCGA-DB-A64V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd199b2-da43-4864-a647-3c36b2034f00	4047e4fc-39cc-4c30-bec3-fc4dffdf607c	g.chr2:209169012A>G	ENST00000264380.4	+	11	1596	c.1438A>G	c.(1438-1440)Ata>Gta	p.I480V	PIKFYVE_ENST00000392202.3_Missense_Mutation_p.I383V|PIKFYVE_ENST00000407449.1_Missense_Mutation_p.I480V|PIKFYVE_ENST00000308862.6_Missense_Mutation_p.I394V	NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	480					cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						CACAGAACAGATAGCTGAAGA	0.403													18	52					0	0	1	0	0	G	209169012	A	G	209169012	3	3	47	1	0	0	0	0	1	0	0	0	11972	333	12	3	1476	3	PIKFYVE	2	209169012	Missense_Mutation	SNP	A	TCGA-DB-A64V-01A-11D-A29Q-08	55900	209169012	34030361	9	1961											
ZNF445	353274	broad.mit.edu	37	3	44496823	44496823	+	Silent	SNP	C	C	T			TCGA-DB-A64V-01A-11D-A29Q-08	TCGA-DB-A64V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd199b2-da43-4864-a647-3c36b2034f00	4047e4fc-39cc-4c30-bec3-fc4dffdf607c	g.chr3:44496823C>T	ENST00000425708.2	-	2	560	c.219G>A	c.(217-219)ctG>ctA	p.L73L	ZNF445_ENST00000396077.2_Silent_p.L73L			P59923	ZN445_HUMAN	zinc finger protein 445	73	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|skin(3)	31				KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646)		GGAGCCGGCTCAGAGTTTCTA	0.607													6	115					0	0	1	0	0	T	44496823	C	T	44496823	2	4	47	1	0	0	0	0	0	0	0	1	17975	813	29	2		2	ZNF445	3	44496823	Silent	SNP	C	TCGA-DB-A64V-01A-11D-A29Q-08		44496823	153525607	10	1962											
FLNB	2317	broad.mit.edu	37	3	58111408	58111408	+	Silent	SNP	C	C	T			TCGA-DB-A64V-01A-11D-A29Q-08	TCGA-DB-A64V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd199b2-da43-4864-a647-3c36b2034f00	4047e4fc-39cc-4c30-bec3-fc4dffdf607c	g.chr3:58111408C>T	ENST00000357272.4	+	23	4164	c.3999C>T	c.(3997-3999)gcC>gcT	p.A1333A	FLNB_ENST00000419752.2_Silent_p.A1164A|FLNB_ENST00000429972.2_Silent_p.A1333A|FLNB_ENST00000490882.1_Silent_p.A1333A|FLNB_ENST00000358537.3_Silent_p.A1333A|FLNB_ENST00000295956.4_Silent_p.A1333A|FLNB_ENST00000348383.5_Silent_p.A1333A|FLNB_ENST00000493452.1_Silent_p.A1164A			O75369	FLNB_HUMAN	filamin B, beta	1333	Interaction with FBLP1.				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		GGGTGCAAGCCCAAGGACCTG	0.522													6	109					0	0	1	0	0	T	58111408	C	T	58111408	2	4	47	1	0	0	0	0	0	0	0	1	5967	610	22	2		2	FLNB	3	58111408	Silent	SNP	C	TCGA-DB-A64V-01A-11D-A29Q-08	13614585	58111408	139911022	11	1963											
ZBTB20	26137	broad.mit.edu	37	3	114058203	114058203	+	Missense_Mutation	SNP	C	C	G			TCGA-DB-A64V-01A-11D-A29Q-08	TCGA-DB-A64V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd199b2-da43-4864-a647-3c36b2034f00	4047e4fc-39cc-4c30-bec3-fc4dffdf607c	g.chr3:114058203C>G	ENST00000462705.1	-	12	2477	c.1656G>C	c.(1654-1656)atG>atC	p.M552I	ZBTB20_ENST00000471418.1_Missense_Mutation_p.M552I|ZBTB20_ENST00000357258.3_Missense_Mutation_p.M552I|ZBTB20_ENST00000464560.1_Missense_Mutation_p.M552I|ZBTB20_ENST00000393785.2_Missense_Mutation_p.M552I|ZBTB20_ENST00000474710.1_Missense_Mutation_p.M625I|ZBTB20_ENST00000481632.1_Missense_Mutation_p.M552I	NM_001164343.1	NP_001157815.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	625					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		TGTGTGTCACCATGTGCTTGA	0.537													27	78					0	0	1	0	0	G	114058203	C	G	114058203	3	3	47	1	0	0	0	0	1	0	0	0	17588	594	21	5	354	5	ZBTB20	3	114058203	Missense_Mutation	SNP	C	TCGA-DB-A64V-01A-11D-A29Q-08	55946795	114058203	83964227	12	1964											
PIK3CA	5290	broad.mit.edu	37	3	178928079	178928079	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A64V-01A-11D-A29Q-08	TCGA-DB-A64V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd199b2-da43-4864-a647-3c36b2034f00	4047e4fc-39cc-4c30-bec3-fc4dffdf607c	g.chr3:178928079G>A	ENST00000263967.3	+	8	1514	c.1357G>A	c.(1357-1359)Gaa>Aaa	p.E453K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	453	C2 PI3K-type.		E -> Q (in cancer; shows an increase in lipid kinase activity; may disrupt the interaction of the C2 PI3K-type domain with the iSH2 region of the p85 regulatory subunit).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E453K(11)|p.E453Q(5)|p.H450fs*9(1)|p.G451_L456>V(1)|p.P449_L455del(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TCATGGATTAGAAGATTTGCT	0.348		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			7	64					0	0	1	0	0	A	178928079	G	A	178928079	3	1	47	1	0	0	0	0	1	0	0	0	11961	943	33	2	1383	2	PIK3CA	3	178928079	Missense_Mutation	SNP	G	TCGA-DB-A64V-01A-11D-A29Q-08	64869876	178928079	19094351	13	1965											
USP53	54532	broad.mit.edu	37	4	120192691	120192691	+	Missense_Mutation	SNP	A	A	G			TCGA-DB-A64V-01A-11D-A29Q-08	TCGA-DB-A64V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd199b2-da43-4864-a647-3c36b2034f00	4047e4fc-39cc-4c30-bec3-fc4dffdf607c	g.chr4:120192691A>G	ENST00000450251.1	+	12	2220	c.1676A>G	c.(1675-1677)gAc>gGc	p.D559G	USP53_ENST00000274030.6_Missense_Mutation_p.D559G			Q70EK8	UBP53_HUMAN	ubiquitin specific peptidase 53	559					ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	27						ACTGGATATGACACAGACAGC	0.423													11	73					0	0	1	0	0	G	120192691	A	G	120192691	3	3	47	1	0	0	0	0	1	0	0	0	17144	275	10	3	1722	3	USP53	4	120192691	Missense_Mutation	SNP	A	TCGA-DB-A64V-01A-11D-A29Q-08		120192691	70961585	14	1966											
TAS2R1	50834	broad.mit.edu	37	5	9630017	9630017	+	Missense_Mutation	SNP	G	G	A	rs2234231	byFrequency	TCGA-DB-A64V-01A-11D-A29Q-08	TCGA-DB-A64V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd199b2-da43-4864-a647-3c36b2034f00	4047e4fc-39cc-4c30-bec3-fc4dffdf607c	g.chr5:9630017G>A	ENST00000382492.2	-	1	446	c.128C>T	c.(127-129)cCg>cTg	p.P43L	CTD-2001E22.1_ENST00000504182.2_RNA	NM_019599.2	NP_062545.1	Q9NYW7	TA2R1_HUMAN	taste receptor, type 2, member 1	43					chemosensory behavior|sensory perception of taste	integral to membrane	taste receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(19)|ovary(3)|prostate(1)|skin(1)|stomach(1)	39						GAGATCCAGCGGAGCCATTTT	0.378													20	67					0	0	1	0	0	A	9630017	G	A	9630017	3	1	47	1	0	0	0	0	1	0	0	0	15622	1116	39	1	775	1	TAS2R1	5	9630017	Missense_Mutation	SNP	G	TCGA-DB-A64V-01A-11D-A29Q-08		9630017	171285243	15	1967											
PCDHGC5	56097	broad.mit.edu	37	5	140871058	140871058	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A64V-01A-11D-A29Q-08	TCGA-DB-A64V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd199b2-da43-4864-a647-3c36b2034f00	4047e4fc-39cc-4c30-bec3-fc4dffdf607c	g.chr5:140871058G>A	ENST00000252087.1	+	1	2251	c.2251G>A	c.(2251-2253)Gtg>Atg	p.V751M	PCDHGA11_ENST00000518882.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGC4_ENST00000306593.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGC3_ENST00000308177.3_Intron	NM_018929.2|NM_032403.2|NM_032407.1	NP_061752.1|NP_115779.1|NP_115783.1	Q9Y5F6	PCDGM_HUMAN		751					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)			CAACCTGCAGGTGAGCTCGGA	0.652													7	60					0	0	1	0	0	A	140871058	G	A	140871058	3	1	47	1	0	0	0	0	1	0	0	0	11618	1261	44	2	2253	2	PCDHGC5	5	140871058	Missense_Mutation	SNP	G	TCGA-DB-A64V-01A-11D-A29Q-08	131241041	140871058	40044202	16	1968											
DOCK2	1794	broad.mit.edu	37	5	169435568	169435568	+	Missense_Mutation	SNP	T	T	C	rs145444170	byFrequency	TCGA-DB-A64V-01A-11D-A29Q-08	TCGA-DB-A64V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd199b2-da43-4864-a647-3c36b2034f00	4047e4fc-39cc-4c30-bec3-fc4dffdf607c	g.chr5:169435568T>C	ENST00000256935.8	+	31	3220	c.3140T>C	c.(3139-3141)tTc>tCc	p.F1047S	DOCK2_ENST00000540750.1_Missense_Mutation_p.F108S|DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000520908.1_Missense_Mutation_p.F539S	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1047	Interaction with CRKL.				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CTGGAGCAGTTCTCACACGCC	0.448													6	59					0	0	1	0	0	C	169435568	T	C	169435568	3	2	47	1	0	0	0	0	1	0	0	0	4714	1783	62	3	3262	3	DOCK2	5	169435568	Missense_Mutation	SNP	T	TCGA-DB-A64V-01A-11D-A29Q-08	28564510	169435568	11479692	17	1969											
NKAPL	222698	broad.mit.edu	37	6	28228314	28228314	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DB-A64V-01A-11D-A29Q-08	TCGA-DB-A64V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd199b2-da43-4864-a647-3c36b2034f00	4047e4fc-39cc-4c30-bec3-fc4dffdf607c	g.chr6:28228314C>T	ENST00000343684.3	+	1	1217	c.1165C>T	c.(1165-1167)Cga>Tga	p.R389*		NM_001007531.1	NP_001007532.1	Q5M9Q1	NKAPL_HUMAN	NFKB activating protein-like	389										breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						AGCCAGTTTCCGAGAGATGGT	0.378													3	33					0	0	1	0	0	T	28228314	C	T	28228314	4	4	47	1	0	0	0	0	0	1	0	0	10487	644	23	1	1167	1	NKAPL	6	28228314	Nonsense_Mutation	SNP	C	TCGA-DB-A64V-01A-11D-A29Q-08		28228314	142886753	18	1970											
ABCC10	89845	broad.mit.edu	37	6	43400788	43400788	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A64V-01A-11D-A29Q-08	TCGA-DB-A64V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd199b2-da43-4864-a647-3c36b2034f00	4047e4fc-39cc-4c30-bec3-fc4dffdf607c	g.chr6:43400788G>A	ENST00000244533.3	+	1	1300	c.941G>A	c.(940-942)gGg>gAg	p.G314E	ABCC10_ENST00000372530.4_Missense_Mutation_p.G357E|ABCC10_ENST00000443426.2_Intron	NM_033450.2	NP_258261.2	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	357	ABC transmembrane type-1 1.					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			CAGGCACGGGGGGCTGTGCTG	0.587													4	94					0	0	1	0	0	A	43400788	G	A	43400788	3	1	47	1	0	0	0	0	1	0	0	0	50	1232	43	2	943	2	ABCC10	6	43400788	Missense_Mutation	SNP	G	TCGA-DB-A64V-01A-11D-A29Q-08	15172474	43400788	127714279	19	1971											
MIOS	54468	broad.mit.edu	37	7	7625428	7625428	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DB-A64V-01A-11D-A29Q-08	TCGA-DB-A64V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd199b2-da43-4864-a647-3c36b2034f00	4047e4fc-39cc-4c30-bec3-fc4dffdf607c	g.chr7:7625428delG	ENST00000340080.4	+	7	2231	c.1810delG	c.(1810-1812)ggafs	p.G604fs	MIOS_ENST00000405785.1_Frame_Shift_Del_p.G604fs	NM_019005.3	NP_061878.3	Q9NXC5	MIO_HUMAN	missing oocyte, meiosis regulator, homolog (Drosophila)	604										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						ATCTTACGATGGAGTTTTGGT	0.328													11	80	---	---	---	---						-	7625428	G	-	7625428	7	5	47	1	0	1	0	1	0	0	0	0	9637	1349	47	0	1824	0	MIOS	7	7625428	Frame_Shift_Del	DEL	G	TCGA-DB-A64V-01A-11D-A29Q-08		7625428	151513235	20	1972											
SAMD9L	219285	broad.mit.edu	37	7	92763622	92763638	+	Frame_Shift_Del	DEL	TTTCCACTGAAGAGAGT	TTTCCACTGAAGAGAGT	-	rs137896260		TCGA-DB-A64V-01A-11D-A29Q-08	TCGA-DB-A64V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd199b2-da43-4864-a647-3c36b2034f00	4047e4fc-39cc-4c30-bec3-fc4dffdf607c	g.chr7:92763622_92763638delTTTCCACTGAAGAGAGT	ENST00000318238.4	-	5	2863_2879	c.1647_1663delACTCTCTTCAGTGGAAA	c.(1645-1665)ttactctcttcagtggaaagcfs	p.LSSVES550fs	SAMD9L_ENST00000411955.1_Frame_Shift_Del_p.LSSVES550fs|SAMD9L_ENST00000437805.1_Frame_Shift_Del_p.LSSVES550fs	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	550								p.V553fs*10(1)		central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			TCTCCTGGGCTTTCCACTGAAGAGAGTAATAGAAACA	0.35													9	17	---	---	---	---						-	92763638	TTTCCACTGAAGAGAGT	-	92763622	7	5	47	1	0	1	0	1	0	0	0	0	13879	1609	56	0	3095	0	SAMD9L	7	92763622	Frame_Shift_Del	DEL	TTTCCACTGAAGAGAGT	TCGA-DB-A64V-01A-11D-A29Q-08	85138194	92763622	66375041	21	1973											
CNGB3	54714	broad.mit.edu	37	8	87656896	87656896	+	Missense_Mutation	SNP	A	A	G			TCGA-DB-A64V-01A-11D-A29Q-08	TCGA-DB-A64V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd199b2-da43-4864-a647-3c36b2034f00	4047e4fc-39cc-4c30-bec3-fc4dffdf607c	g.chr8:87656896A>G	ENST00000320005.5	-	9	1056	c.1009T>C	c.(1009-1011)Ttt>Ctt	p.F337L		NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	337					signal transduction|visual perception	integral to membrane	cGMP binding			NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						TGATGATTAAATTCAAAAAAT	0.274													6	13					0	0	1	0	0	G	87656896	A	G	87656896	3	3	47	1	0	0	0	0	1	0	0	0	3624	101	4	3	1460	3	CNGB3	8	87656896	Missense_Mutation	SNP	A	TCGA-DB-A64V-01A-11D-A29Q-08		87656896	58707126	22	1974											
BICD2	23299	broad.mit.edu	37	9	95481529	95481529	+	Silent	SNP	C	C	T			TCGA-DB-A64V-01A-11D-A29Q-08	TCGA-DB-A64V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd199b2-da43-4864-a647-3c36b2034f00	4047e4fc-39cc-4c30-bec3-fc4dffdf607c	g.chr9:95481529C>T	ENST00000356884.6	-	5	1465	c.1398G>A	c.(1396-1398)caG>caA	p.Q466Q	BICD2_ENST00000375512.3_Silent_p.Q466Q	NM_001003800.1	NP_001003800.1	Q8TD16	BICD2_HUMAN	bicaudal D homolog 2 (Drosophila)	466					microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule	cytoplasmic vesicle|cytoskeleton|Golgi apparatus|plasma membrane	Rab GTPase binding			cervix(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						CCTCGGCGTGCTGGGCCTCAC	0.667													20	36					0	0	1	0	0	T	95481529	C	T	95481529	2	4	47	1	0	0	0	0	0	0	0	1	1428	796	28	2		2	BICD2	9	95481529	Silent	SNP	C	TCGA-DB-A64V-01A-11D-A29Q-08		95481529	45731902	23	1975											
TACR2	6865	broad.mit.edu	37	10	71175890	71175890	+	Missense_Mutation	SNP	T	T	A			TCGA-DB-A64V-01A-11D-A29Q-08	TCGA-DB-A64V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd199b2-da43-4864-a647-3c36b2034f00	4047e4fc-39cc-4c30-bec3-fc4dffdf607c	g.chr10:71175890T>A	ENST00000373306.4	-	1	733	c.190A>T	c.(190-192)Atg>Ttg	p.M64L		NM_001057.2	NP_001048.2	P21452	NK2R_HUMAN	tachykinin receptor 2	64					excretion|muscle contraction	integral to plasma membrane	tachykinin receptor activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	11					Clonidine(DB00575)|Octreotide(DB00104)	ACTGTGCGCATCCTCCGATGG	0.587													4	56					0	0	1	0	0	A	71175890	T	A	71175890	3	1	47	1	0	0	0	0	1	0	0	0	15563	1435	50	4	1026	4	TACR2	10	71175890	Missense_Mutation	SNP	T	TCGA-DB-A64V-01A-11D-A29Q-08		71175890	64358857	24	1976											
NEUROG3	50674	broad.mit.edu	37	10	71332578	71332578	+	Missense_Mutation	SNP	C	C	G			TCGA-DB-A64V-01A-11D-A29Q-08	TCGA-DB-A64V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd199b2-da43-4864-a647-3c36b2034f00	4047e4fc-39cc-4c30-bec3-fc4dffdf607c	g.chr10:71332578C>G	ENST00000242462.4	-	2	251	c.222G>C	c.(220-222)gaG>gaC	p.E74D		NM_020999.3	NP_066279.2	Q9Y4Z2	NGN3_HUMAN	neurogenin 3	74					central nervous system development|endocrine pancreas development|peripheral nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity	nucleus	transcription coactivator activity			endometrium(4)|large_intestine(2)|lung(6)|prostate(1)	13						TCAGTGCCAACTCGCTCTTAG	0.692													3	18					0	0	1	0	0	G	71332578	C	G	71332578	3	3	47	1	0	0	0	0	1	0	0	0	10401	564	20	4	426	4	NEUROG3	10	71332578	Missense_Mutation	SNP	C	TCGA-DB-A64V-01A-11D-A29Q-08	156688	71332578	64202169	25	1977											
MUC6	4588	broad.mit.edu	37	11	1024966	1024966	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A64V-01A-11D-A29Q-08	TCGA-DB-A64V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd199b2-da43-4864-a647-3c36b2034f00	4047e4fc-39cc-4c30-bec3-fc4dffdf607c	g.chr11:1024966G>A	ENST00000421673.2	-	24	3153	c.3103C>T	c.(3103-3105)Ccg>Tcg	p.P1035S		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1035	VWFD 3.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CCGCACAGCGGGCTCTCCTTC	0.617													3	34					0	0	1	0	0	A	1024966	G	A	1024966	3	1	47	1	0	0	0	0	1	0	0	0	10028	1232	43	2	4256	2	MUC6	11	1024966	Missense_Mutation	SNP	G	TCGA-DB-A64V-01A-11D-A29Q-08		1024966	133981550	26	1978											
ABCC9	10060	broad.mit.edu	37	12	22012589	22012589	+	Silent	SNP	C	C	A			TCGA-DB-A64V-01A-11D-A29Q-08	TCGA-DB-A64V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd199b2-da43-4864-a647-3c36b2034f00	4047e4fc-39cc-4c30-bec3-fc4dffdf607c	g.chr12:22012589C>A	ENST00000261200.4	-	20	2435	c.2436G>T	c.(2434-2436)ctG>ctT	p.L812L	ABCC9_ENST00000261201.4_Silent_p.L812L|RP11-729I10.2_ENST00000539874.1_RNA|ABCC9_ENST00000345162.2_Silent_p.L776L	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	812	ABC transporter 1.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	GTCCCCCACTCAGGTTGATGC	0.383													16	139					9.7654e-05	9.98241e-05	1	1	0	A	22012589	C	A	22012589	2	1	47	1	0	0	0	0	0	0	0	1	59	813	29	5		5	ABCC9	12	22012589	Silent	SNP	C	TCGA-DB-A64V-01A-11D-A29Q-08		22012589	111839306	27	1979											
SART3	9733	broad.mit.edu	37	12	108938934	108938934	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A64V-01A-11D-A29Q-08	TCGA-DB-A64V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd199b2-da43-4864-a647-3c36b2034f00	4047e4fc-39cc-4c30-bec3-fc4dffdf607c	g.chr12:108938934G>A	ENST00000228284.3	-	4	944	c.710C>T	c.(709-711)gCg>gTg	p.A237V	SART3_ENST00000431469.2_Missense_Mutation_p.A237V	NM_014706.3	NP_055521.1	Q15020	SART3_HUMAN	squamous cell carcinoma antigen recognized by T cells 3	237					RNA processing	cytoplasm|nuclear speck	nucleotide binding|protein binding|RNA binding			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|stomach(1)	25						TTCCACAATCGCACTTTCAAA	0.493									Porokeratosis				53	195					0	0	1	0	0	A	108938934	G	A	108938934	3	1	47	1	0	0	0	0	1	0	0	0	13900	1087	38	1	2245	1	SART3	12	108938934	Missense_Mutation	SNP	G	TCGA-DB-A64V-01A-11D-A29Q-08	86926345	108938934	24912961	28	1980											
LTBP2	4053	broad.mit.edu	37	14	74988686	74988686	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A64V-01A-11D-A29Q-08	TCGA-DB-A64V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd199b2-da43-4864-a647-3c36b2034f00	4047e4fc-39cc-4c30-bec3-fc4dffdf607c	g.chr14:74988686C>T	ENST00000261978.4	-	17	3102	c.2716G>A	c.(2716-2718)Gtg>Atg	p.V906M	LTBP2_ENST00000556690.1_Missense_Mutation_p.V906M	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	906	Cys-rich.|EGF-like 5; calcium-binding (Potential).				protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		TAGGACCCCACGCGGTTGATG	0.632													4	45					0	0	1	0	0	T	74988686	C	T	74988686	3	4	47	1	0	0	0	0	1	0	0	0	9119	536	19	1	2829	1	LTBP2	14	74988686	Missense_Mutation	SNP	C	TCGA-DB-A64V-01A-11D-A29Q-08		74988686	32360854	29	1981											
ACTC1	70	broad.mit.edu	37	15	35086923	35086923	+	Silent	SNP	G	G	A			TCGA-DB-A64V-01A-11D-A29Q-08	TCGA-DB-A64V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd199b2-da43-4864-a647-3c36b2034f00	4047e4fc-39cc-4c30-bec3-fc4dffdf607c	g.chr15:35086923G>A	ENST00000290378.4	-	2	742	c.87C>T	c.(85-87)ccC>ccT	p.P29P	RP11-814P5.1_ENST00000503496.1_RNA	NM_005159.4	NP_005150.1	P68032	ACTC_HUMAN	actin, alpha, cardiac muscle 1	29					apoptosis|cardiac muscle tissue morphogenesis|cardiac myofibril assembly|muscle filament sliding|skeletal muscle thin filament assembly	actomyosin, actin part|cytosol|I band	ATP binding|ATPase activity|myosin binding			central_nervous_system(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	31		all_lung(180;2.3e-08)		all cancers(64;5.83e-19)|GBM - Glioblastoma multiforme(113;1.98e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		AGACAGCGCGGGGCGCGTCAT	0.682													4	83					0	0	1	0	0	A	35086923	G	A	35086923	2	1	47	1	0	0	0	0	0	0	0	1	195	1219	43	2		2	ACTC1	15	35086923	Silent	SNP	G	TCGA-DB-A64V-01A-11D-A29Q-08		35086923	67444469	30	1982											
ADAMTS7	11173	broad.mit.edu	37	15	79092723	79092723	+	Silent	SNP	G	G	A			TCGA-DB-A64V-01A-11D-A29Q-08	TCGA-DB-A64V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd199b2-da43-4864-a647-3c36b2034f00	4047e4fc-39cc-4c30-bec3-fc4dffdf607c	g.chr15:79092723G>A	ENST00000388820.4	-	2	477	c.267C>T	c.(265-267)cgC>cgT	p.R89R	ADAMTS7_ENST00000566303.1_5'UTR	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	89					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						AGCGCAGCTCGCGCCCGCGGT	0.706													3	23					0	0	1	0	0	A	79092723	G	A	79092723	2	1	47	1	0	0	0	0	0	0	0	1	270	1074	38	1		1	ADAMTS7	15	79092723	Silent	SNP	G	TCGA-DB-A64V-01A-11D-A29Q-08	44005800	79092723	23438669	31	1983											
C16orf11	146325	broad.mit.edu	37	16	614024	614024	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DB-A64V-01A-11D-A29Q-08	TCGA-DB-A64V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd199b2-da43-4864-a647-3c36b2034f00	4047e4fc-39cc-4c30-bec3-fc4dffdf607c	g.chr16:614024delC	ENST00000409413.3	+	2	1009	c.730delC	c.(730-732)cccfs	p.P245fs		NM_145270.2	NP_660313.1	P0CG20	CP011_HUMAN	chromosome 16 open reading frame 11	245	Pro-rich.									central_nervous_system(1)|endometrium(1)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	10						CCCCCTGCTGCCCCCGGCCAC	0.731													3	6	---	---	---	---						-	614024	C	-	614024	7	5	47	1	0	1	0	1	0	0	0	0	1817	739	26	0	732	0	C16orf11	16	614024	Frame_Shift_Del	DEL	C	TCGA-DB-A64V-01A-11D-A29Q-08		614024	89740729	32	1984											
SNX20	124460	broad.mit.edu	37	16	50707432	50707432	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A64V-01A-11D-A29Q-08	TCGA-DB-A64V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd199b2-da43-4864-a647-3c36b2034f00	4047e4fc-39cc-4c30-bec3-fc4dffdf607c	g.chr16:50707432G>A	ENST00000330943.4	-	4	1007	c.836C>T	c.(835-837)gCg>gTg	p.A279V	SNX20_ENST00000300590.3_Intron|SNX20_ENST00000423026.2_Intron	NM_182854.2	NP_878274.1	Q7Z614	SNX20_HUMAN	sorting nexin 20	279					cell communication|protein transport	endosome membrane|nucleus|plasma membrane	phosphatidylinositol binding|protein binding			kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|skin(2)|stomach(1)	15						CTTGCCCAGCGCGTAGGCCAG	0.697													5	78					0	0	1	0	0	A	50707432	G	A	50707432	3	1	47	1	0	0	0	0	1	0	0	0	14946	1087	38	1	261	1	SNX20	16	50707432	Missense_Mutation	SNP	G	TCGA-DB-A64V-01A-11D-A29Q-08	50093408	50707432	39647321	33	1985											
GJC1	10052	broad.mit.edu	37	17	42882004	42882004	+	Silent	SNP	G	G	A			TCGA-DB-A64V-01A-11D-A29Q-08	TCGA-DB-A64V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd199b2-da43-4864-a647-3c36b2034f00	4047e4fc-39cc-4c30-bec3-fc4dffdf607c	g.chr17:42882004G>A	ENST00000426548.1	-	3	1451	c.1182C>T	c.(1180-1182)gtC>gtT	p.V394V	GJC1_ENST00000590758.1_Silent_p.V394V|GJC1_ENST00000592524.1_Silent_p.V394V|GJC1_ENST00000330514.4_Silent_p.V394V	NM_001080383.1|NM_005497.3	NP_001073852.1|NP_005488.2	P36383	CXG1_HUMAN	gap junction protein, gamma 1, 45kDa	394					cellular membrane organization|gap junction assembly|muscle contraction|synaptic transmission|transport	connexon complex|integral to membrane				NS(1)|kidney(1)|large_intestine(5)|liver(1)|lung(10)|prostate(1)	19		Prostate(33;0.0959)				ATTAAATCCAGACGGAGGTCT	0.488													16	122					0	0	1	0	0	A	42882004	G	A	42882004	2	1	47	1	0	0	0	0	0	0	0	1	6456	929	33	2		2	GJC1	17	42882004	Silent	SNP	G	TCGA-DB-A64V-01A-11D-A29Q-08		42882004	38313206	34	1986											
HAUS1	115106	broad.mit.edu	37	18	43700024	43700024	+	Silent	SNP	A	A	G			TCGA-DB-A64V-01A-11D-A29Q-08	TCGA-DB-A64V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd199b2-da43-4864-a647-3c36b2034f00	4047e4fc-39cc-4c30-bec3-fc4dffdf607c	g.chr18:43700024A>G	ENST00000282058.6	+	4	554	c.474A>G	c.(472-474)caA>caG	p.Q158Q	HAUS1_ENST00000588704.1_3'UTR|HAUS1_ENST00000585518.1_Intron	NM_138443.3	NP_612452.1	Q96CS2	HAUS1_HUMAN	HAUS augmin-like complex, subunit 1	158					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle pole				endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	7						AATGTCTACAAGAGTAAGTAA	0.294													7	16					0	0	1	0	0	G	43700024	A	G	43700024	2	3	47	1	0	0	0	0	0	0	0	1	7006	69	3	3		3	HAUS1	18	43700024	Silent	SNP	A	TCGA-DB-A64V-01A-11D-A29Q-08		43700024	34377224	35	1987											
NACC1	112939	broad.mit.edu	37	19	13248162	13248162	+	Missense_Mutation	SNP	C	C	G			TCGA-DB-A64V-01A-11D-A29Q-08	TCGA-DB-A64V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd199b2-da43-4864-a647-3c36b2034f00	4047e4fc-39cc-4c30-bec3-fc4dffdf607c	g.chr19:13248162C>G	ENST00000292431.4	+	4	1324	c.1198C>G	c.(1198-1200)Cgg>Ggg	p.R400G		NM_052876.3	NP_443108.1	Q96RE7	NACC1_HUMAN	nucleus accumbens associated 1, BEN and BTB (POZ) domain containing	400	BEN.				negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|protein homooligomerization|transcription, DNA-dependent	cytoplasm|nuclear body				endometrium(3)|large_intestine(2)|lung(3)|skin(1)	9						GGTCCTACTGCGGCGGCTCCT	0.647													8	85					0	0	1	0	0	G	13248162	C	G	13248162	3	3	47	1	0	0	0	0	1	0	0	0	10183	759	27	5	1208	5	NACC1	19	13248162	Missense_Mutation	SNP	C	TCGA-DB-A64V-01A-11D-A29Q-08		13248162	45880821	36	1988											
CIC	23152	broad.mit.edu	37	19	42791802	42791802	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A64V-01A-11D-A29Q-08	TCGA-DB-A64V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd199b2-da43-4864-a647-3c36b2034f00	4047e4fc-39cc-4c30-bec3-fc4dffdf607c	g.chr19:42791802G>A	ENST00000572681.2	+	6	3483	c.3415G>A	c.(3415-3417)Gtc>Atc	p.V1139I	CIC_ENST00000575354.2_Missense_Mutation_p.V230I|CIC_ENST00000160740.3_Missense_Mutation_p.V230I			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	230	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	p.V230I(1)		autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CAACCGGACCGTCAGCAAGAT	0.617			"Mis, F, S"		oligodendroglioma								10	64					0	0	1	0	0	A	42791802	G	A	42791802	3	1	47	1	0	0	0	0	1	0	0	0	3446	1145	40	1	706	1	CIC	19	42791802	Missense_Mutation	SNP	G	TCGA-DB-A64V-01A-11D-A29Q-08	29543640	42791802	16337181	37	1989											
SLC24A3	57419	broad.mit.edu	37	20	19193520	19193522	+	In_Frame_Del	DEL	CGC	CGC	-			TCGA-DB-A64V-01A-11D-A29Q-08	TCGA-DB-A64V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd199b2-da43-4864-a647-3c36b2034f00	4047e4fc-39cc-4c30-bec3-fc4dffdf607c	g.chr20:19193520_19193522delCGC	ENST00000328041.6	+	1	231_233	c.34_36delCGC	c.(34-36)cgcdel	p.R20del	RP11-97N19.2_ENST00000446849.1_RNA	NM_020689.3	NP_065740.2	Q9HC58	NCKX3_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 3	20						integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						CCGCGCGcgtcgccgccgccgcc	0.813													2	4	---	---	---	---						-	19193522	CGC	-	19193520	7	5	47	1	0	1	0	1	0	0	0	0	14522	884	31	0	36	0	SLC24A3	20	19193520	In_Frame_Del	DEL	CGC	TCGA-DB-A64V-01A-11D-A29Q-08		19193520	43832000	38	1990											
ATP9A	10079	broad.mit.edu	37	20	50312662	50312662	+	Missense_Mutation	SNP	T	T	C			TCGA-DB-A64V-01A-11D-A29Q-08	TCGA-DB-A64V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd199b2-da43-4864-a647-3c36b2034f00	4047e4fc-39cc-4c30-bec3-fc4dffdf607c	g.chr20:50312662T>C	ENST00000338821.5	-	6	781	c.517A>G	c.(517-519)Atg>Gtg	p.M173V	ATP9A_ENST00000311637.5_Intron|ATP9A_ENST00000402822.1_Intron	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	173					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						AGGAAGATCATGTCGGCAGGG	0.448													7	43					0	0	1	0	0	C	50312662	T	C	50312662	3	2	47	1	0	0	0	0	1	0	0	0	1196	1464	51	3	2718	3	ATP9A	20	50312662	Missense_Mutation	SNP	T	TCGA-DB-A64V-01A-11D-A29Q-08	31119142	50312662	12712858	39	1991											
UBASH3A	53347	broad.mit.edu	37	21	43833168	43833168	+	Silent	SNP	G	G	A	rs141710800		TCGA-DB-A64V-01A-11D-A29Q-08	TCGA-DB-A64V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd199b2-da43-4864-a647-3c36b2034f00	4047e4fc-39cc-4c30-bec3-fc4dffdf607c	g.chr21:43833168G>A	ENST00000319294.6	+	4	421	c.390G>A	c.(388-390)gcG>gcA	p.A130A	UBASH3A_ENST00000398367.1_Silent_p.A130A|UBASH3A_ENST00000291535.6_Silent_p.A130A	NM_018961.3	NP_061834.1	P57075	UBS3A_HUMAN	ubiquitin associated and SH3 domain containing A	130						cytosol|nucleus				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(9)|lung(12)|ovary(3)	28						TGTACGAGGCGCTGAAGAGAG	0.547													21	177					0	0	1	0	0	A	43833168	G	A	43833168	2	1	47	1	0	0	0	0	0	0	0	1	16900	1074	38	1		1	UBASH3A	21	43833168	Silent	SNP	G	TCGA-DB-A64V-01A-11D-A29Q-08		43833168	4296727	40	1992											
EP300	2033	broad.mit.edu	37	22	41566476	41566476	+	Silent	SNP	T	T	C			TCGA-DB-A64V-01A-11D-A29Q-08	TCGA-DB-A64V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd199b2-da43-4864-a647-3c36b2034f00	4047e4fc-39cc-4c30-bec3-fc4dffdf607c	g.chr22:41566476T>C	ENST00000263253.7	+	27	5572	c.4353T>C	c.(4351-4353)caT>caC	p.H1451H	RP1-85F18.6_ENST00000415054.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	1451					apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						TCCATTGCCATCCTCCTGACC	0.428			"T,  N, F, Mis, O"	"MLL, RUNXBP2"	"colorectal, breast, pancreatic, AML, ALL, DLBCL"				Rubinstein-Taybi syndrome				9	64					0	0	1	0	0	C	41566476	T	C	41566476	2	2	47	1	0	0	0	0	0	0	0	1	5176	1432	50	3		3	EP300	22	41566476	Silent	SNP	T	TCGA-DB-A64V-01A-11D-A29Q-08		41566476	9738090	41	1993											
BEND2	139105	broad.mit.edu	37	X	18183208	18183208	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A64V-01A-11D-A29Q-08	TCGA-DB-A64V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd199b2-da43-4864-a647-3c36b2034f00	4047e4fc-39cc-4c30-bec3-fc4dffdf607c	g.chrX:18183208G>A	ENST00000380033.4	-	14	2453	c.2321C>T	c.(2320-2322)tCg>tTg	p.S774L		NM_153346.4	NP_699177.2	Q8NDZ0	BEND2_HUMAN	BEN domain containing 2	774								p.S774L(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1)	49						TGCTGGAAGCGACTGAGACCT	0.557													14	87					0	0	1	0	0	A	18183208	G	A	18183208	3	1	47	1	0	0	0	0	1	0	0	0	1396	1059	37	1	82	1	BEND2	23	18183208	Missense_Mutation	SNP	G	TCGA-DB-A64V-01A-11D-A29Q-08		18183208	137087352	42	1994											
RBMXL1	494115	broad.mit.edu	37	1	89448560	89448560	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A64W-01A-11D-A29Q-08	TCGA-DB-A64W-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e7f9bb4-37b2-4e68-8a34-a2388eac7ba0	5bb15587-a86c-4da2-be1d-7b1fa9f105a8	g.chr1:89448560C>T	ENST00000399794.2	-	3	1665	c.950G>A	c.(949-951)cGt>cAt	p.R317H	CCBL2_ENST00000370485.2_Intron|CCBL2_ENST00000260508.4_Intron|CCBL2_ENST00000446900.2_Intron|RBMXL1_ENST00000321792.5_Missense_Mutation_p.R317H|CCBL2_ENST00000370491.3_Intron	NM_001162536.2	NP_001156008.1	Q96E39	RBMXL_HUMAN	RNA binding motif protein, X-linked-like 1	317	Ser-rich.						nucleotide binding|RNA binding										ATATCCATCACGTGAGCTGCT	0.498													113	42					0	0	1	0	0	T	89448560	C	T	89448560	3	4	48	1	0	0	0	0	1	0	0	0	13205	536	19	1	226	1	RBMXL1	1	89448560	Missense_Mutation	SNP	C	TCGA-DB-A64W-01A-11D-A29Q-08		89448560	159802061	1	1995											
DENND2D	79961	broad.mit.edu	37	1	111738675	111738675	+	Missense_Mutation	SNP	G	G	C			TCGA-DB-A64W-01A-11D-A29Q-08	TCGA-DB-A64W-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e7f9bb4-37b2-4e68-8a34-a2388eac7ba0	5bb15587-a86c-4da2-be1d-7b1fa9f105a8	g.chr1:111738675G>C	ENST00000357640.4	-	6	737	c.508C>G	c.(508-510)Ctg>Gtg	p.L170V	DENND2D_ENST00000369752.5_Missense_Mutation_p.L167V|DENND2D_ENST00000473682.1_5'UTR	NM_024901.3	NP_079177.2	Q9H6A0	DEN2D_HUMAN	DENN/MADD domain containing 2D	170	DENN.									breast(1)|endometrium(1)|kidney(7)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	25		all_cancers(81;0.00198)|all_epithelial(167;0.000686)|all_lung(203;0.00318)|Lung NSC(277;0.00499)		Lung(183;0.0162)|Colorectal(144;0.069)|all cancers(265;0.0757)|LUSC - Lung squamous cell carcinoma(189;0.0845)|Epithelial(280;0.114)|COAD - Colon adenocarcinoma(174;0.14)		ACTTCATCCAGGATCTGCAGG	0.552													30	7					0	0	1	0	0	C	111738675	G	C	111738675	3	2	48	1	0	0	0	0	1	0	0	0	4459	991	35	4	935	4	DENND2D	1	111738675	Missense_Mutation	SNP	G	TCGA-DB-A64W-01A-11D-A29Q-08	22290115	111738675	137511946	2	1996											
OR6N2	81442	broad.mit.edu	37	1	158746704	158746704	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A64W-01A-11D-A29Q-08	TCGA-DB-A64W-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e7f9bb4-37b2-4e68-8a34-a2388eac7ba0	5bb15587-a86c-4da2-be1d-7b1fa9f105a8	g.chr1:158746704C>T	ENST00000339258.1	-	1	721	c.722G>A	c.(721-723)tGt>tAt	p.C241Y		NM_001005278.1	NP_001005278.1	Q8NGY6	OR6N2_HUMAN	olfactory receptor, family 6, subfamily N, member 2	241					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(6)|lung(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_hematologic(112;0.0378)					ATGTGAGGCACAGGTAGAAAA	0.433													22	25					0	0	1	0	0	T	158746704	C	T	158746704	3	4	48	1	0	0	0	0	1	0	0	0	11254	478	17	2	234	2	OR6N2	1	158746704	Missense_Mutation	SNP	C	TCGA-DB-A64W-01A-11D-A29Q-08	47008029	158746704	90503917	3	1997											
EPRS	2058	broad.mit.edu	37	1	220142262	220142262	+	Silent	SNP	T	T	A			TCGA-DB-A64W-01A-11D-A29Q-08	TCGA-DB-A64W-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e7f9bb4-37b2-4e68-8a34-a2388eac7ba0	5bb15587-a86c-4da2-be1d-7b1fa9f105a8	g.chr1:220142262T>A	ENST00000366923.3	-	32	4694	c.4425A>T	c.(4423-4425)ggA>ggT	p.G1475G	EPRS_ENST00000468487.1_5'UTR	NM_004446.2	NP_004437.2	P07814	SYEP_HUMAN	glutamyl-prolyl-tRNA synthetase	1475	Prolyl-tRNA synthetase.				glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly	cytosol|soluble fraction	ATP binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding|RNA binding			breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3)	63				GBM - Glioblastoma multiforme(131;0.0735)	L-Glutamic Acid(DB00142)|L-Proline(DB00172)	GGCTTTTAGCTCCCATGGATG	0.433													32	42					0	0	1	0	0	A	220142262	T	A	220142262	2	1	48	1	0	0	0	0	0	0	0	1	5219	1538	54	5		5	EPRS	1	220142262	Silent	SNP	T	TCGA-DB-A64W-01A-11D-A29Q-08	61395558	220142262	29108359	4	1998											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-DB-A64W-01A-11D-A29Q-08	TCGA-DB-A64W-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e7f9bb4-37b2-4e68-8a34-a2388eac7ba0	5bb15587-a86c-4da2-be1d-7b1fa9f105a8	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								24	30					0	0	1	0	0	T	209113112	C	T	209113112	3	4	48	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-DB-A64W-01A-11D-A29Q-08		209113112	34086261	5	1999											
ALS2CL	259173	broad.mit.edu	37	3	46722851	46722851	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A64W-01A-11D-A29Q-08	TCGA-DB-A64W-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e7f9bb4-37b2-4e68-8a34-a2388eac7ba0	5bb15587-a86c-4da2-be1d-7b1fa9f105a8	g.chr3:46722851G>A	ENST00000318962.4	-	13	1404	c.1321C>T	c.(1321-1323)Cgg>Tgg	p.R441W	ALS2CL_ENST00000415953.1_Missense_Mutation_p.R441W	NM_147129.3	NP_667340.2	Q60I27	AL2CL_HUMAN	ALS2 C-terminal like	441					endosome organization|regulation of Rho protein signal transduction		GTPase activator activity|identical protein binding|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(3)|stomach(2)	29				BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)		AATCCGTGCCGCAGGCCCTCC	0.637													5	190					0	0	1	0	0	A	46722851	G	A	46722851	3	1	48	1	0	0	0	0	1	0	0	0	547	1086	38	1	1596	1	ALS2CL	3	46722851	Missense_Mutation	SNP	G	TCGA-DB-A64W-01A-11D-A29Q-08		46722851	151299579	6	2000											
COL8A1	1295	broad.mit.edu	37	3	99513494	99513494	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A64W-01A-11D-A29Q-08	TCGA-DB-A64W-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e7f9bb4-37b2-4e68-8a34-a2388eac7ba0	5bb15587-a86c-4da2-be1d-7b1fa9f105a8	g.chr3:99513494C>T	ENST00000261037.3	+	5	1129	c.749C>T	c.(748-750)gCg>gTg	p.A250V	COL8A1_ENST00000273342.4_Missense_Mutation_p.A250V	NM_001850.4	NP_001841.2	P27658	CO8A1_HUMAN	collagen, type VIII, alpha 1	250	Triple-helical region (COL1).				angiogenesis|cell adhesion	basement membrane|collagen type VIII				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(15)|skin(5)|upper_aerodigestive_tract(1)	27						ATGCCAGGTGCGCCAGGTGTA	0.642													66	121					0	0	1	0	0	T	99513494	C	T	99513494	3	4	48	1	0	0	0	0	1	0	0	0	3728	768	27	1	755	1	COL8A1	3	99513494	Missense_Mutation	SNP	C	TCGA-DB-A64W-01A-11D-A29Q-08	52790643	99513494	98508936	7	2001											
ZBTB11	27107	broad.mit.edu	37	3	101373567	101373567	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DB-A64W-01A-11D-A29Q-08	TCGA-DB-A64W-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e7f9bb4-37b2-4e68-8a34-a2388eac7ba0	5bb15587-a86c-4da2-be1d-7b1fa9f105a8	g.chr3:101373567G>A	ENST00000312938.4	-	8	2870	c.2290C>T	c.(2290-2292)Cga>Tga	p.R764*		NM_014415.3	NP_055230.2	O95625	ZBT11_HUMAN	zinc finger and BTB domain containing 11	764					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						TGATAGCCTCGAACCTCAGGC	0.363													28	38					0	0	1	0	0	A	101373567	G	A	101373567	4	1	48	1	0	0	0	0	0	1	0	0	17583	1066	37	1	887	1	ZBTB11	3	101373567	Nonsense_Mutation	SNP	G	TCGA-DB-A64W-01A-11D-A29Q-08	1860073	101373567	96648863	8	2002											
ZBTB20	26137	broad.mit.edu	37	3	114058129	114058129	+	Missense_Mutation	SNP	T	T	C			TCGA-DB-A64W-01A-11D-A29Q-08	TCGA-DB-A64W-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e7f9bb4-37b2-4e68-8a34-a2388eac7ba0	5bb15587-a86c-4da2-be1d-7b1fa9f105a8	g.chr3:114058129T>C	ENST00000462705.1	-	12	2551	c.1730A>G	c.(1729-1731)aAc>aGc	p.N577S	ZBTB20_ENST00000357258.3_Missense_Mutation_p.N577S|ZBTB20_ENST00000471418.1_Missense_Mutation_p.N577S|ZBTB20_ENST00000464560.1_Missense_Mutation_p.N577S|ZBTB20_ENST00000474710.1_Missense_Mutation_p.N650S|ZBTB20_ENST00000481632.1_Missense_Mutation_p.N577S|ZBTB20_ENST00000393785.2_Missense_Mutation_p.N577S	NM_001164343.1	NP_001157815.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	650					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		CATGTGCACGTTGAGGGAGCT	0.527													75	134					0	0	1	0	0	C	114058129	T	C	114058129	3	2	48	1	0	0	0	0	1	0	0	0	17588	1725	60	3	280	3	ZBTB20	3	114058129	Missense_Mutation	SNP	T	TCGA-DB-A64W-01A-11D-A29Q-08	12684562	114058129	83964301	9	2003											
IGSF10	285313	broad.mit.edu	37	3	151162901	151162901	+	Missense_Mutation	SNP	T	T	C			TCGA-DB-A64W-01A-11D-A29Q-08	TCGA-DB-A64W-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e7f9bb4-37b2-4e68-8a34-a2388eac7ba0	5bb15587-a86c-4da2-be1d-7b1fa9f105a8	g.chr3:151162901T>C	ENST00000282466.3	-	4	4867	c.4868A>G	c.(4867-4869)aAg>aGg	p.K1623R		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	1623					cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			AACTGGTTTCTTATCAAAGTC	0.438													51	63					0	0	1	0	0	C	151162901	T	C	151162901	3	2	48	1	0	0	0	0	1	0	0	0	7641	1609	56	3	3063	3	IGSF10	3	151162901	Missense_Mutation	SNP	T	TCGA-DB-A64W-01A-11D-A29Q-08	37104772	151162901	46859529	10	2004											
PIK3CA	5290	broad.mit.edu	37	3	178936082	178936082	+	Missense_Mutation	SNP	G	G	A	rs121913273		TCGA-DB-A64W-01A-11D-A29Q-08	TCGA-DB-A64W-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e7f9bb4-37b2-4e68-8a34-a2388eac7ba0	5bb15587-a86c-4da2-be1d-7b1fa9f105a8	g.chr3:178936082G>A	ENST00000263967.3	+	10	1781	c.1624G>A	c.(1624-1626)Gaa>Aaa	p.E542K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	542	PI3K helical.		E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation).|E -> Q (in cancer).|E -> V (in cancer).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E542K(545)|p.E542Q(10)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TCCTCTCTCTGAAATCACTGA	0.333	E542K(BT483_BREAST)|E542K(CAL51_BREAST)|E542K(HGC27_STOMACH)|E542K(IM95_STOMACH)|E542K(JHUEM1_ENDOMETRIUM)|E542K(NCIH1341_LUNG)|E542K(SW948_LARGE_INTESTINE)|E542K(T84_LARGE_INTESTINE)|E542K(VMCUB1_URINARY_TRACT)	57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			17	22					0	0	1	0	0	A	178936082	G	A	178936082	3	1	48	1	0	0	0	0	1	0	0	0	11961	1291	45	2	1658	2	PIK3CA	3	178936082	Missense_Mutation	SNP	G	TCGA-DB-A64W-01A-11D-A29Q-08	27773181	178936082	19086348	11	2005											
GPR98	84059	broad.mit.edu	37	5	89971261	89971261	+	Splice_Site	SNP	A	A	G			TCGA-DB-A64W-01A-11D-A29Q-08	TCGA-DB-A64W-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e7f9bb4-37b2-4e68-8a34-a2388eac7ba0	5bb15587-a86c-4da2-be1d-7b1fa9f105a8	g.chr5:89971261A>G	ENST00000405460.2	+	24	5408	c.5312A>G	c.(5311-5313)cAg>cGg	p.Q1771R	GPR98_ENST00000450321.2_3'UTR	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	1771	Calx-beta 12.				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GAGGATTACCAGGTAATTTAC	0.433													8	16					0	0	1	0	0	G	89971261	A	G	89971261	5	3	48	1	0	0	0	0	0	0	1	0	6762	202	7	3	5406	3	GPR98	5	89971261	Splice_Site	SNP	A	TCGA-DB-A64W-01A-11D-A29Q-08		89971261	90943999	12	2006											
ZCCHC10	54819	broad.mit.edu	37	5	132334445	132334446	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DB-A64W-01A-11D-A29Q-08	TCGA-DB-A64W-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e7f9bb4-37b2-4e68-8a34-a2388eac7ba0	5bb15587-a86c-4da2-be1d-7b1fa9f105a8	g.chr5:132334445_132334446insT	ENST00000324170.3	-	4	408_409	c.342_343insA	c.(340-345)tcagagfs	p.E115fs	ZCCHC10_ENST00000355372.2_Frame_Shift_Ins_p.E131fs|ZCCHC10_ENST00000513848.1_Frame_Shift_Ins_p.E101fs|ZCCHC10_ENST00000513541.1_3'UTR|ZCCHC10_ENST00000509008.1_3'UTR|ZCCHC10_ENST00000508080.1_5'UTR|ZCCHC10_ENST00000509437.1_Frame_Shift_Ins_p.E137fs	NM_017665.1	NP_060135.1	Q8TBK6	ZCH10_HUMAN	zinc finger, CCHC domain containing 10	137	Ser-rich.						nucleic acid binding|zinc ion binding			skin(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TCACTGTCCTCTGAGGAGGAAG	0.48													12	22	---	---	---	---						T	132334446	-	T	132334445	7	5	48	1	0	1	1	0	0	0	0	0	17638	922	32	0	173	0	ZCCHC10	5	132334445	Frame_Shift_Ins	INS	-	TCGA-DB-A64W-01A-11D-A29Q-08	42363184	132334445	48580815	13	2007											
PCDHGC3	5098	broad.mit.edu	37	5	140857769	140857769	+	Missense_Mutation	SNP	C	C	A			TCGA-DB-A64W-01A-11D-A29Q-08	TCGA-DB-A64W-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e7f9bb4-37b2-4e68-8a34-a2388eac7ba0	5bb15587-a86c-4da2-be1d-7b1fa9f105a8	g.chr5:140857769C>A	ENST00000308177.3	+	1	2190	c.2086C>A	c.(2086-2088)Ctt>Att	p.L696I	PCDHGA8_ENST00000398604.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron	NM_002588.2|NM_032402.1	NP_002579.2|NP_115778.1														breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(2)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTATCTACTTCTTTCTCTAAT	0.488											OREG0016865	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	198	260					1.98392e-77	2.07839e-77	1	1	0	A	140857769	C	A	140857769	3	1	48	1	0	0	0	0	1	0	0	0	11616	913	32	4	2088	4	PCDHGC3	5	140857769	Missense_Mutation	SNP	C	TCGA-DB-A64W-01A-11D-A29Q-08	8523324	140857769	40057491	14	2008											
ZNF292	23036	broad.mit.edu	37	6	87964502	87964503	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DB-A64W-01A-11D-A29Q-08	TCGA-DB-A64W-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e7f9bb4-37b2-4e68-8a34-a2388eac7ba0	5bb15587-a86c-4da2-be1d-7b1fa9f105a8	g.chr6:87964502_87964503insA	ENST00000369577.3	+	8	1198_1199	c.1155_1156insA	c.(1156-1158)aaafs	p.K386fs	ZNF292_ENST00000339907.4_Frame_Shift_Ins_p.K381fs	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	386					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		ATCTGGAAGTTAAACGTGCTTG	0.376													19	39	---	---	---	---						A	87964503	-	A	87964502	7	5	48	1	0	1	1	0	0	0	0	0	17883	1741	61	0	1185	0	ZNF292	6	87964502	Frame_Shift_Ins	INS	-	TCGA-DB-A64W-01A-11D-A29Q-08		87964502	83150565	15	2009											
EZR	7430	broad.mit.edu	37	6	159188410	159188410	+	Silent	SNP	G	G	A			TCGA-DB-A64W-01A-11D-A29Q-08	TCGA-DB-A64W-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e7f9bb4-37b2-4e68-8a34-a2388eac7ba0	5bb15587-a86c-4da2-be1d-7b1fa9f105a8	g.chr6:159188410G>A	ENST00000367075.3	-	13	1647	c.1479C>T	c.(1477-1479)ggC>ggT	p.G493G	EZR_ENST00000392177.4_Silent_p.G461G|EZR_ENST00000337147.7_Silent_p.G493G	NM_001111077.1	NP_001104547.1	P15311	EZRI_HUMAN	ezrin	493	Interaction with SCYL3.				actin filament bundle assembly|axon guidance|cytoskeletal anchoring at plasma membrane|leukocyte cell-cell adhesion|membrane to membrane docking|regulation of cell shape	actin filament|apical plasma membrane|basolateral plasma membrane|cortical cytoskeleton|cytosol|extrinsic to membrane|filopodium|microvillus membrane|nucleolus|ruffle membrane	actin filament binding|cell adhesion molecule binding		EZR/ROS1(4)	breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)	15		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-17)|BRCA - Breast invasive adenocarcinoma(81;6.58e-06)		TGGGCTCTGCGCCCTCATCCT	0.642			T	ROS1	NSCLC								43	93					0	0	1	0	0	A	159188410	G	A	159188410	2	1	48	1	0	0	0	0	0	0	0	1	5363	1074	38	1		1	EZR	6	159188410	Silent	SNP	G	TCGA-DB-A64W-01A-11D-A29Q-08	71223908	159188410	11926657	16	2010											
TNRC18	84629	broad.mit.edu	37	7	5428871	5428871	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DB-A64W-01A-11D-A29Q-08	TCGA-DB-A64W-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e7f9bb4-37b2-4e68-8a34-a2388eac7ba0	5bb15587-a86c-4da2-be1d-7b1fa9f105a8	g.chr7:5428871delG	ENST00000399537.4	-	5	932	c.584delC	c.(583-585)ccgfs	p.P195fs	TNRC18_ENST00000430969.1_Frame_Shift_Del_p.P195fs			O15417	TNC18_HUMAN	trinucleotide repeat containing 18	195							DNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		GCCTTTGGCCGGGGCGCCCGA	0.776													2	4	---	---	---	---						-	5428871	G	-	5428871	7	5	48	1	0	1	0	1	0	0	0	0	16399	1116	39	0	8426	0	TNRC18	7	5428871	Frame_Shift_Del	DEL	G	TCGA-DB-A64W-01A-11D-A29Q-08		5428871	153709792	17	2011											
AGR3	155465	broad.mit.edu	37	7	16918142	16918142	+	Missense_Mutation	SNP	A	A	G			TCGA-DB-A64W-01A-11D-A29Q-08	TCGA-DB-A64W-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e7f9bb4-37b2-4e68-8a34-a2388eac7ba0	5bb15587-a86c-4da2-be1d-7b1fa9f105a8	g.chr7:16918142A>G	ENST00000310398.2	-	2	171	c.101T>C	c.(100-102)cTc>cCc	p.L34P	AGR3_ENST00000402239.3_Missense_Mutation_p.L34P	NM_176813.3	NP_789783.1	Q8TD06	AGR3_HUMAN	anterior gradient 3	34						extracellular region				central_nervous_system(1)|kidney(8)|lung(2)|skin(1)|stomach(1)	13	Lung NSC(10;0.0376)|all_lung(11;0.0721)|all_epithelial(12;0.202)			UCEC - Uterine corpus endometrioid carcinoma (126;0.184)		ACCTCTTGAGAGTGTCTGAGG	0.383													19	29					0	0	1	0	0	G	16918142	A	G	16918142	3	3	48	1	0	0	0	0	1	0	0	0	393	304	11	3	427	3	AGR3	7	16918142	Missense_Mutation	SNP	A	TCGA-DB-A64W-01A-11D-A29Q-08	11489271	16918142	142220521	18	2012											
SKAP2	8935	broad.mit.edu	37	7	26729921	26729921	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A64W-01A-11D-A29Q-08	TCGA-DB-A64W-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e7f9bb4-37b2-4e68-8a34-a2388eac7ba0	5bb15587-a86c-4da2-be1d-7b1fa9f105a8	g.chr7:26729921C>T	ENST00000345317.2	-	10	1170	c.857G>A	c.(856-858)aGt>aAt	p.S286N	SKAP2_ENST00000539623.1_Missense_Mutation_p.S114N	NM_003930.3	NP_003921.2	O75563	SKAP2_HUMAN	src kinase associated phosphoprotein 2	286					B cell activation|cell junction assembly|protein complex assembly|signal transduction	cytosol|plasma membrane	SH3/SH2 adaptor activity			haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|skin(3)	17						GTGATGGACACTATCCTGACT	0.378													20	43					0	0	1	0	0	T	26729921	C	T	26729921	3	4	48	1	0	0	0	0	1	0	0	0	14411	565	20	2	234	2	SKAP2	7	26729921	Missense_Mutation	SNP	C	TCGA-DB-A64W-01A-11D-A29Q-08	9811779	26729921	132408742	19	2013											
HECW1	23072	broad.mit.edu	37	7	43483866	43483866	+	Silent	SNP	G	G	A			TCGA-DB-A64W-01A-11D-A29Q-08	TCGA-DB-A64W-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e7f9bb4-37b2-4e68-8a34-a2388eac7ba0	5bb15587-a86c-4da2-be1d-7b1fa9f105a8	g.chr7:43483866G>A	ENST00000395891.2	+	11	1700	c.1095G>A	c.(1093-1095)caG>caA	p.Q365Q	HECW1_ENST00000453890.1_Silent_p.Q365Q	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1						protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						CCCAAATTCAGGACAGCCCCA	0.532													22	45					0	0	1	0	0	A	43483866	G	A	43483866	2	1	48	1	0	0	0	0	0	0	0	1	7083	991	35	2		2	HECW1	7	43483866	Silent	SNP	G	TCGA-DB-A64W-01A-11D-A29Q-08	16753945	43483866	115654797	20	2014											
DOCK4	9732	broad.mit.edu	37	7	111512564	111512564	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A64W-01A-11D-A29Q-08	TCGA-DB-A64W-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e7f9bb4-37b2-4e68-8a34-a2388eac7ba0	5bb15587-a86c-4da2-be1d-7b1fa9f105a8	g.chr7:111512564G>A	ENST00000428084.1	-	18	2073	c.1801C>T	c.(1801-1803)Ctc>Ttc	p.L601F	DOCK4_ENST00000437633.1_Missense_Mutation_p.L601F|DOCK4_ENST00000476846.1_5'UTR			Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	601	DHR-1.				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				AATTTAGAGAGACAGCCAGTG	0.328													3	6					0	0	1	0	0	A	111512564	G	A	111512564	3	1	48	1	0	0	0	0	1	0	0	0	4716	942	33	2	4239	2	DOCK4	7	111512564	Missense_Mutation	SNP	G	TCGA-DB-A64W-01A-11D-A29Q-08	68028698	111512564	47626099	21	2015											
MCPH1	79648	broad.mit.edu	37	8	6301937	6301937	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A64W-01A-11D-A29Q-08	TCGA-DB-A64W-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e7f9bb4-37b2-4e68-8a34-a2388eac7ba0	5bb15587-a86c-4da2-be1d-7b1fa9f105a8	g.chr8:6301937C>T	ENST00000344683.5	+	8	770	c.694C>T	c.(694-696)Cac>Tac	p.H232Y	MCPH1_ENST00000522905.1_Missense_Mutation_p.H184Y|MCPH1_ENST00000519480.1_Missense_Mutation_p.H232Y	NM_024596.3	NP_078872	Q8NEM0	MCPH1_HUMAN	microcephalin 1	232						microtubule organizing center			AGPAT5/MCPH1(2)	central_nervous_system(1)|large_intestine(4)|skin(1)	6		Hepatocellular(245;0.0663)		Colorectal(4;0.0505)		TGGTGGCTTACACTCATCTTT	0.338													20	36					0	0	1	0	0	T	6301937	C	T	6301937	3	4	48	1	0	0	0	0	1	0	0	0	9448	478	17	2	724	2	MCPH1	8	6301937	Missense_Mutation	SNP	C	TCGA-DB-A64W-01A-11D-A29Q-08		6301937	140062085	22	2016											
WNK2	65268	broad.mit.edu	37	9	96018613	96018613	+	Silent	SNP	C	C	T			TCGA-DB-A64W-01A-11D-A29Q-08	TCGA-DB-A64W-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e7f9bb4-37b2-4e68-8a34-a2388eac7ba0	5bb15587-a86c-4da2-be1d-7b1fa9f105a8	g.chr9:96018613C>T	ENST00000297954.4	+	9	2067	c.2067C>T	c.(2065-2067)ccC>ccT	p.P689P	WNK2_ENST00000356055.3_5'UTR|WNK2_ENST00000349097.3_Silent_p.P301P|WNK2_ENST00000395477.2_Silent_p.P689P|WNK2_ENST00000427277.2_Silent_p.P301P|WNK2_ENST00000395475.2_Intron	NM_001282394.1	NP_001269323.1	Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	689					intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						TCCCGGCCCCCGCCTGCCCTC	0.751													7	10					0	0	1	0	0	T	96018613	C	T	96018613	2	4	48	1	0	0	0	0	0	0	0	1	17438	639	23	1		1	WNK2	9	96018613	Silent	SNP	C	TCGA-DB-A64W-01A-11D-A29Q-08		96018613	45194818	23	2017											
AGPAT2	10555	broad.mit.edu	37	9	139571516	139571516	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A64W-01A-11D-A29Q-08	TCGA-DB-A64W-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e7f9bb4-37b2-4e68-8a34-a2388eac7ba0	5bb15587-a86c-4da2-be1d-7b1fa9f105a8	g.chr9:139571516C>T	ENST00000371696.2	-	3	454	c.389G>A	c.(388-390)gGc>gAc	p.G130D	AGPAT2_ENST00000538402.1_Missense_Mutation_p.G130D|AGPAT2_ENST00000371694.3_Missense_Mutation_p.G130D	NM_006412.3	NP_006403.2	O15120	PLCB_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 2	130					phosphatidic acid biosynthetic process|positive regulation of cytokine production|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity			endometrium(1)|large_intestine(1)|lung(2)|prostate(2)	6	all_cancers(76;0.0893)|all_epithelial(76;0.231)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;9.87e-06)|Epithelial(140;0.000123)		CATGATGAGGCCCACGGGCCC	0.637													73	113					0	0	1	0	0	T	139571516	C	T	139571516	3	4	48	1	0	0	0	0	1	0	0	0	384	739	26	2	463	2	AGPAT2	9	139571516	Missense_Mutation	SNP	C	TCGA-DB-A64W-01A-11D-A29Q-08	43552903	139571516	1641915	24	2018											
ADARB2	105	broad.mit.edu	37	10	1405304	1405304	+	Silent	SNP	C	C	T			TCGA-DB-A64W-01A-11D-A29Q-08	TCGA-DB-A64W-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e7f9bb4-37b2-4e68-8a34-a2388eac7ba0	5bb15587-a86c-4da2-be1d-7b1fa9f105a8	g.chr10:1405304C>T	ENST00000381312.1	-	3	1321	c.996G>A	c.(994-996)gcG>gcA	p.A332A		NM_018702.3	NP_061172.1	Q9NS39	RED2_HUMAN	adenosine deaminase, RNA-specific, B2 (non-functional)	332	DRBM 2.				mRNA processing	mitochondrion|nucleus	adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	41		all_epithelial(10;0.059)|Colorectal(49;0.0815)		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)		GTGCGGCCTGCGCGGCCTGAC	0.746													9	6					0	0	1	0	0	T	1405304	C	T	1405304	2	4	48	1	0	0	0	0	0	0	0	1	282	755	27	1		1	ADARB2	10	1405304	Silent	SNP	C	TCGA-DB-A64W-01A-11D-A29Q-08		1405304	134129443	25	2019											
PRF1	5551	broad.mit.edu	37	10	72358832	72358832	+	Silent	SNP	A	A	C			TCGA-DB-A64W-01A-11D-A29Q-08	TCGA-DB-A64W-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e7f9bb4-37b2-4e68-8a34-a2388eac7ba0	5bb15587-a86c-4da2-be1d-7b1fa9f105a8	g.chr10:72358832A>C	ENST00000441259.1	-	3	805	c.645T>G	c.(643-645)ctT>ctG	p.L215L	PRF1_ENST00000373209.2_Silent_p.L215L	NM_001083116.1|NM_005041.4	NP_001076585.1|NP_005032.2	P14222	PERF_HUMAN	perforin 1 (pore forming protein)	215	MACPF.				apoptosis|cellular defense response|cytolysis|defense response to tumor cell|defense response to virus|immune response to tumor cell|protein homooligomerization	cytolytic granule|endosome lumen|extracellular region|integral to membrane|plasma membrane	calcium ion binding|protein binding|wide pore channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(3)|urinary_tract(3)	23						AGTTGGAGATAAGCCTGAGGT	0.662			M			"various leukaemia, lymphoma"	Type 2 familial hemophagocytic lymphohistiocytosis		Familial Hemophagocytic Lymphohistiocytosis				30	40					0	0	1	0	0	C	72358832	A	C	72358832	2	2	48	1	0	0	0	0	0	0	0	1	12530	349	13	5		5	PRF1	10	72358832	Silent	SNP	A	TCGA-DB-A64W-01A-11D-A29Q-08	70953528	72358832	63175915	26	2020											
PDE6C	5146	broad.mit.edu	37	10	95425134	95425134	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A64W-01A-11D-A29Q-08	TCGA-DB-A64W-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e7f9bb4-37b2-4e68-8a34-a2388eac7ba0	5bb15587-a86c-4da2-be1d-7b1fa9f105a8	g.chr10:95425134G>A	ENST00000371447.3	+	22	2674	c.2536G>A	c.(2536-2538)Ggt>Agt	p.G846S	PDE6C_ENST00000475427.2_3'UTR	NM_006204.3	NP_006195.3	P51160	PDE6C_HUMAN	phosphodiesterase 6C, cGMP-specific, cone, alpha prime	846					visual perception	plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|metal ion binding			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.123)				AGATTCAGGAGGTGGTGATGA	0.313													9	28					0	0	1	0	0	A	95425134	G	A	95425134	3	1	48	1	0	0	0	0	1	0	0	0	11694	1000	35	2	2622	2	PDE6C	10	95425134	Missense_Mutation	SNP	G	TCGA-DB-A64W-01A-11D-A29Q-08	23066302	95425134	40109613	27	2021											
OR52B4	143496	broad.mit.edu	37	11	4388941	4388941	+	Silent	SNP	T	T	C			TCGA-DB-A64W-01A-11D-A29Q-08	TCGA-DB-A64W-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e7f9bb4-37b2-4e68-8a34-a2388eac7ba0	5bb15587-a86c-4da2-be1d-7b1fa9f105a8	g.chr11:4388941T>C	ENST00000408920.2	-	1	675	c.585A>G	c.(583-585)cgA>cgG	p.R195R		NM_001005161.3	NP_001005161.2	Q8NGK2	O52B4_HUMAN	olfactory receptor, family 52, subfamily B, member 4	195					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(15)|skin(2)	31		Medulloblastoma(188;0.0075)|Breast(177;0.0249)|all_neural(188;0.0577)		Epithelial(150;1.57e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0826)|LUSC - Lung squamous cell carcinoma(625;0.19)		AAATGTTTATTCGAATGTCAT	0.343													27	47					0	0	1	0	0	C	4388941	T	C	4388941	2	2	48	1	0	0	0	0	0	0	0	1	11160	1770	62	3		3	OR52B4	11	4388941	Silent	SNP	T	TCGA-DB-A64W-01A-11D-A29Q-08		4388941	130617575	28	2022											
USP35	57558	broad.mit.edu	37	11	77907849	77907849	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DB-A64W-01A-11D-A29Q-08	TCGA-DB-A64W-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e7f9bb4-37b2-4e68-8a34-a2388eac7ba0	5bb15587-a86c-4da2-be1d-7b1fa9f105a8	g.chr11:77907849delG	ENST00000529308.1	+	2	819	c.558delG	c.(556-558)gtgfs	p.V186fs	USP35_ENST00000530535.1_Intron|USP35_ENST00000441408.2_5'UTR|USP35_ENST00000530267.1_Intron	NM_020798.2	NP_065849.1	Q9P2H5	UBP35_HUMAN	ubiquitin specific peptidase 35	186					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1)	23	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)			AGGGCGCCGTGGAGTTCCTAG	0.711													2	4	---	---	---	---						-	77907849	G	-	77907849	7	5	48	1	0	1	0	1	0	0	0	0	17126	1335	47	0	560	0	USP35	11	77907849	Frame_Shift_Del	DEL	G	TCGA-DB-A64W-01A-11D-A29Q-08	73518908	77907849	57098667	29	2023											
C12orf40	283461	broad.mit.edu	37	12	40041653	40041653	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DB-A64W-01A-11D-A29Q-08	TCGA-DB-A64W-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e7f9bb4-37b2-4e68-8a34-a2388eac7ba0	5bb15587-a86c-4da2-be1d-7b1fa9f105a8	g.chr12:40041653C>A	ENST00000324616.5	+	6	598	c.444C>A	c.(442-444)tgC>tgA	p.C148*	C12orf40_ENST00000398716.1_Nonsense_Mutation_p.C71*|C12orf40_ENST00000405531.3_Nonsense_Mutation_p.C148*	NM_001031748.2	NP_001026918.2	Q86WS4	CL040_HUMAN	chromosome 12 open reading frame 40	148										breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2)	38						TAGAGAACTGCAGTTTCACTC	0.353													3	20					0.115264	0.115264	1	1	0	A	40041653	C	A	40041653	4	1	48	1	0	0	0	0	0	1	0	0	1692	718	25	5	466	5	C12orf40	12	40041653	Nonsense_Mutation	SNP	C	TCGA-DB-A64W-01A-11D-A29Q-08		40041653	93810242	30	2024											
SDS	10993	broad.mit.edu	37	12	113830761	113830761	+	Silent	SNP	A	A	G			TCGA-DB-A64W-01A-11D-A29Q-08	TCGA-DB-A64W-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e7f9bb4-37b2-4e68-8a34-a2388eac7ba0	5bb15587-a86c-4da2-be1d-7b1fa9f105a8	g.chr12:113830761A>G	ENST00000257549.4	-	8	1094	c.972T>C	c.(970-972)aaT>aaC	p.N324N		NM_006843.2	NP_006834.2	P20132	SDHL_HUMAN	serine dehydratase	324					gluconeogenesis|L-serine catabolic process|pyruvate biosynthetic process	cytoplasm	L-serine ammonia-lyase activity|L-threonine ammonia-lyase activity|protein homodimerization activity|pyridoxal phosphate binding			large_intestine(2)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(1)	11					L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	TGGGCAACCTATTTGTCATGC	0.617													138	190					0	0	1	0	0	G	113830761	A	G	113830761	2	3	48	1	0	0	0	0	0	0	0	1	14029	446	16	3		3	SDS	12	113830761	Silent	SNP	A	TCGA-DB-A64W-01A-11D-A29Q-08	73789108	113830761	20021134	31	2025											
KLF5	688	broad.mit.edu	37	13	73636332	73636332	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A64W-01A-11D-A29Q-08	TCGA-DB-A64W-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e7f9bb4-37b2-4e68-8a34-a2388eac7ba0	5bb15587-a86c-4da2-be1d-7b1fa9f105a8	g.chr13:73636332G>A	ENST00000377687.4	+	2	1131	c.595G>A	c.(595-597)Gca>Aca	p.A199T	KLF5_ENST00000539231.1_Missense_Mutation_p.A108T|KLF5_ENST00000477333.1_3'UTR	NM_001730.3	NP_001721.2	Q13887	KLF5_HUMAN	Kruppel-like factor 5 (intestinal)	199					transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Prostate(6;0.00187)|Breast(118;0.0735)		GBM - Glioblastoma multiforme(99;0.0011)		ACACCAGACCGCAGCTCCAGA	0.532													46	42					0	0	1	0	0	A	73636332	G	A	73636332	3	1	48	1	0	0	0	0	1	0	0	0	8392	1087	38	1	601	1	KLF5	13	73636332	Missense_Mutation	SNP	G	TCGA-DB-A64W-01A-11D-A29Q-08		73636332	41533546	32	2026											
CLEC14A	161198	broad.mit.edu	37	14	38723787	38723787	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A64W-01A-11D-A29Q-08	TCGA-DB-A64W-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e7f9bb4-37b2-4e68-8a34-a2388eac7ba0	5bb15587-a86c-4da2-be1d-7b1fa9f105a8	g.chr14:38723787C>T	ENST00000342213.2	-	1	1787	c.1441G>A	c.(1441-1443)Gcg>Acg	p.A481T		NM_175060.2	NP_778230.1	Q86T13	CLC14_HUMAN	C-type lectin domain family 14, member A	481						integral to membrane	sugar binding			breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)		GGGGACTCCGCCAGCAAGGCA	0.547													47	103					0	0	1	0	0	T	38723787	C	T	38723787	3	4	48	1	0	0	0	0	1	0	0	0	3522	739	26	2	35	2	CLEC14A	14	38723787	Missense_Mutation	SNP	C	TCGA-DB-A64W-01A-11D-A29Q-08		38723787	68625753	33	2027											
TELO2	9894	broad.mit.edu	37	16	1557703	1557703	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A64W-01A-11D-A29Q-08	TCGA-DB-A64W-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e7f9bb4-37b2-4e68-8a34-a2388eac7ba0	5bb15587-a86c-4da2-be1d-7b1fa9f105a8	g.chr16:1557703G>A	ENST00000262319.6	+	20	2672	c.2393G>A	c.(2392-2394)cGg>cAg	p.R798Q		NM_016111.3	NP_057195.2	Q9Y4R8	TELO2_HUMAN	telomere maintenance 2	798						chromosome, telomeric region|cytoplasm|membrane|nucleus	protein binding			NS(1)|endometrium(1)|kidney(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	19		Hepatocellular(780;0.219)				CTGGAAGCCCGGTCCTGGCTG	0.647													13	22					0	0	1	0	0	A	1557703	G	A	1557703	3	1	48	1	0	0	0	0	1	0	0	0	15816	1116	39	1	2467	1	TELO2	16	1557703	Missense_Mutation	SNP	G	TCGA-DB-A64W-01A-11D-A29Q-08		1557703	88797050	34	2028											
PDILT	204474	broad.mit.edu	37	16	20387485	20387485	+	Nonsense_Mutation	SNP	G	G	A	rs139247719		TCGA-DB-A64W-01A-11D-A29Q-08	TCGA-DB-A64W-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e7f9bb4-37b2-4e68-8a34-a2388eac7ba0	5bb15587-a86c-4da2-be1d-7b1fa9f105a8	g.chr16:20387485G>A	ENST00000302451.4	-	4	696	c.448C>T	c.(448-450)Cga>Tga	p.R150*		NM_174924.1	NP_777584.1	Q8N807	PDILT_HUMAN	protein disulfide isomerase-like, testis expressed	150					cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						CTAATTTGTCGTCTCAACCAA	0.463													30	34					0	0	1	0	0	A	20387485	G	A	20387485	4	1	48	1	0	0	0	0	0	1	0	0	11721	1153	40	1	1342	1	PDILT	16	20387485	Nonsense_Mutation	SNP	G	TCGA-DB-A64W-01A-11D-A29Q-08	18829782	20387485	69967268	35	2029											
ATXN2L	11273	broad.mit.edu	37	16	28847394	28847394	+	Silent	SNP	A	A	G			TCGA-DB-A64W-01A-11D-A29Q-08	TCGA-DB-A64W-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e7f9bb4-37b2-4e68-8a34-a2388eac7ba0	5bb15587-a86c-4da2-be1d-7b1fa9f105a8	g.chr16:28847394A>G	ENST00000336783.4	+	22	3203	c.3036A>G	c.(3034-3036)gcA>gcG	p.A1012A	ATXN2L_ENST00000570200.1_Silent_p.A1012A|ATXN2L_ENST00000325215.6_Silent_p.A1012A|ATXN2L_ENST00000564304.1_Silent_p.A1018A|ATXN2L_ENST00000382686.4_Silent_p.A1012A|ATXN2L_ENST00000395547.2_Silent_p.A1012A|ATXN2L_ENST00000340394.8_Silent_p.A1012A|RP11-24N18.1_ENST00000563565.1_RNA	NM_007245.3	NP_009176.2	Q8WWM7	ATX2L_HUMAN	ataxin 2-like	1012						membrane				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						GGGTGCCTGCACTCTCAGCTT	0.687													61	99					0	0	1	0	0	G	28847394	A	G	28847394	2	3	48	1	0	0	0	0	0	0	0	1	1210	146	6	3		3	ATXN2L	16	28847394	Silent	SNP	A	TCGA-DB-A64W-01A-11D-A29Q-08	8459909	28847394	61507359	36	2030											
SEZ6L2	26470	broad.mit.edu	37	16	29888271	29888271	+	Splice_Site	SNP	T	T	G			TCGA-DB-A64W-01A-11D-A29Q-08	TCGA-DB-A64W-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e7f9bb4-37b2-4e68-8a34-a2388eac7ba0	5bb15587-a86c-4da2-be1d-7b1fa9f105a8	g.chr16:29888271T>G	ENST00000308713.5	-	12	2437	c.1910A>C	c.(1909-1911)gAg>gCg	p.E637A	SEZ6L2_ENST00000537485.1_Splice_Site_p.E593A|SEZ6L2_ENST00000350527.3_Splice_Site_p.E567A|SEZ6L2_ENST00000346932.5_Splice_Site_p.E523A	NM_001114099.2|NM_201575.3	NP_001107571.1|NP_963869.2	Q6UXD5	SE6L2_HUMAN	seizure related 6 homolog (mouse)-like 2	637	CUB 3.					endoplasmic reticulum membrane|integral to membrane|plasma membrane				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CCTCGGGACCTCTGCAGGGGA	0.667													16	33					0	0	1	0	0	G	29888271	T	G	29888271	5	3	48	1	0	0	0	0	0	0	1	0	14198	1565	54	5	889	5	SEZ6L2	16	29888271	Splice_Site	SNP	T	TCGA-DB-A64W-01A-11D-A29Q-08	1040877	29888271	60466482	37	2031											
TSNAXIP1	55815	broad.mit.edu	37	16	67859118	67859118	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A64W-01A-11D-A29Q-08	TCGA-DB-A64W-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e7f9bb4-37b2-4e68-8a34-a2388eac7ba0	5bb15587-a86c-4da2-be1d-7b1fa9f105a8	g.chr16:67859118G>A	ENST00000388833.3	+	7	972	c.595G>A	c.(595-597)Gca>Aca	p.A199T	TSNAXIP1_ENST00000415766.3_Missense_Mutation_p.A184T|TSNAXIP1_ENST00000562321.1_3'UTR|TSNAXIP1_ENST00000561639.1_Missense_Mutation_p.A253T	NM_018430.2	NP_060900.2	Q2TAA8	TXIP1_HUMAN	translin-associated factor X interacting protein 1	199					cell differentiation|multicellular organismal development|spermatogenesis	perinuclear region of cytoplasm				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|prostate(1)|soft_tissue(1)|urinary_tract(1)	22		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00432)|Epithelial(162;0.0192)|all cancers(182;0.125)		GATCCTCATCGCAGACCTGAA	0.542													43	57					0	0	1	0	0	A	67859118	G	A	67859118	3	1	48	1	0	0	0	0	1	0	0	0	16693	1087	38	1	613	1	TSNAXIP1	16	67859118	Missense_Mutation	SNP	G	TCGA-DB-A64W-01A-11D-A29Q-08	37970847	67859118	22495635	38	2032											
NEURL4	84461	broad.mit.edu	37	17	7231068	7231068	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A64W-01A-11D-A29Q-08	TCGA-DB-A64W-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e7f9bb4-37b2-4e68-8a34-a2388eac7ba0	5bb15587-a86c-4da2-be1d-7b1fa9f105a8	g.chr17:7231068G>A	ENST00000399464.2	-	2	433	c.418C>T	c.(418-420)Cgc>Tgc	p.R140C	NEURL4_ENST00000315614.7_Missense_Mutation_p.R140C|NEURL4_ENST00000570460.1_Missense_Mutation_p.R140C	NM_032442.2	NP_115818.2			neuralized E3 ubiquitin protein ligase 4											central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						AACACAGAGCGTCCATCTCTC	0.642													68	90					0	0	1	0	0	A	7231068	G	A	7231068	3	1	48	1	0	0	0	0	1	0	0	0	10394	1145	40	1	4382	1	NEURL4	17	7231068	Missense_Mutation	SNP	G	TCGA-DB-A64W-01A-11D-A29Q-08		7231068	73964142	39	2033											
PRKAR1A	5573	broad.mit.edu	37	17	66526499	66526499	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A64W-01A-11D-A29Q-08	TCGA-DB-A64W-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e7f9bb4-37b2-4e68-8a34-a2388eac7ba0	5bb15587-a86c-4da2-be1d-7b1fa9f105a8	g.chr17:66526499G>A	ENST00000589228.1	+	11	1183	c.1055G>A	c.(1054-1056)cGa>cAa	p.R352Q	PRKAR1A_ENST00000586397.1_Missense_Mutation_p.R352Q|PRKAR1A_ENST00000536854.2_Missense_Mutation_p.R352Q|PRKAR1A_ENST00000588188.2_Intron|PRKAR1A_ENST00000392711.1_Missense_Mutation_p.R352Q|PRKAR1A_ENST00000358598.2_Missense_Mutation_p.R352Q	NM_001276289.1|NM_001278433.1	NP_001263218.1|NP_001265362.1	P10644	KAP0_HUMAN	protein kinase, cAMP-dependent, regulatory, type I, alpha	352					activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|intracellular signal transduction|nerve growth factor receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter|transmembrane transport|water transport	cAMP-dependent protein kinase complex|cytosol	cAMP binding|cAMP-dependent protein kinase regulator activity|protein binding			adrenal_gland(4)|breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(8)|soft_tissue(2)|stomach(2)|testis(1)|thyroid(2)|upper_aerodigestive_tract(1)	31	Breast(10;1.64e-13)					AAGCTGGACCGACCTAGATTT	0.488			"T, Mis, N, F, S"	RET	papillary thyroid	"myxoma, endocrine, papillary thyroid"			Primary Pigmented Nodular Adrenocortical Disease, Familial;Carney Complex;Cardiac Myxomas, Familial Clustering of				55	69					0	0	1	0	0	A	66526499	G	A	66526499	3	1	48	1	0	0	0	0	1	0	0	0	12555	1058	37	1	1093	1	PRKAR1A	17	66526499	Missense_Mutation	SNP	G	TCGA-DB-A64W-01A-11D-A29Q-08	59295431	66526499	14668711	40	2034											
SMCHD1	23347	broad.mit.edu	37	18	2732375	2732375	+	Missense_Mutation	SNP	A	A	G			TCGA-DB-A64W-01A-11D-A29Q-08	TCGA-DB-A64W-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e7f9bb4-37b2-4e68-8a34-a2388eac7ba0	5bb15587-a86c-4da2-be1d-7b1fa9f105a8	g.chr18:2732375A>G	ENST00000320876.6	+	25	3499	c.3161A>G	c.(3160-3162)cAt>cGt	p.H1054R	RP11-703M24.5_ENST00000583546.1_RNA|SMCHD1_ENST00000261598.8_Missense_Mutation_p.H1054R	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1	1054					chromosome organization		ATP binding			NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						CAGATCAAACATCAGGATGAG	0.363													33	50					0	0	1	0	0	G	2732375	A	G	2732375	3	3	48	1	0	0	0	0	1	0	0	0	14842	217	8	3	3259	3	SMCHD1	18	2732375	Missense_Mutation	SNP	A	TCGA-DB-A64W-01A-11D-A29Q-08		2732375	75344873	41	2035											
CIC	23152	broad.mit.edu	37	19	42791817	42791817	+	Missense_Mutation	SNP	G	G	T			TCGA-DB-A64W-01A-11D-A29Q-08	TCGA-DB-A64W-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e7f9bb4-37b2-4e68-8a34-a2388eac7ba0	5bb15587-a86c-4da2-be1d-7b1fa9f105a8	g.chr19:42791817G>T	ENST00000572681.2	+	6	3498	c.3430G>T	c.(3430-3432)Ggc>Tgc	p.G1144C	CIC_ENST00000160740.3_Missense_Mutation_p.G235C|CIC_ENST00000575354.2_Missense_Mutation_p.G235C			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	235	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CAAGATCCTGGGCGAGTGGTG	0.612			"Mis, F, S"		oligodendroglioma								41	23					2.45108e-15	2.48879e-15	1	1	0	T	42791817	G	T	42791817	3	4	48	1	0	0	0	0	1	0	0	0	3446	1232	43	5	721	5	CIC	19	42791817	Missense_Mutation	SNP	G	TCGA-DB-A64W-01A-11D-A29Q-08		42791817	16337166	42	2036											
MMP9	4318	broad.mit.edu	37	20	44641108	44641108	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A64W-01A-11D-A29Q-08	TCGA-DB-A64W-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e7f9bb4-37b2-4e68-8a34-a2388eac7ba0	5bb15587-a86c-4da2-be1d-7b1fa9f105a8	g.chr20:44641108C>T	ENST00000372330.3	+	8	1236	c.1217C>T	c.(1216-1218)gCg>gTg	p.A406V		NM_004994.2	NP_004985.2	P14780	MMP9_HUMAN	matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	406					collagen catabolic process|macrophage differentiation|positive regulation of keratinocyte migration|proteolysis	extracellular space|proteinaceous extracellular matrix	collagen binding|metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(4)|large_intestine(14)|liver(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	46		Myeloproliferative disorder(115;0.0122)			Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)|Simvastatin(DB00641)	TTCGGCCACGCGCTGGGCTTA	0.637													37	53					0	0	1	0	0	T	44641108	C	T	44641108	3	4	48	1	0	0	0	0	1	0	0	0	9718	768	27	1	1247	1	MMP9	20	44641108	Missense_Mutation	SNP	C	TCGA-DB-A64W-01A-11D-A29Q-08		44641108	18384412	43	2037											
ASMTL	8623	broad.mit.edu	37	X	1551213	1551213	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A64W-01A-11D-A29Q-08	TCGA-DB-A64W-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e7f9bb4-37b2-4e68-8a34-a2388eac7ba0	5bb15587-a86c-4da2-be1d-7b1fa9f105a8	g.chrX:1551213G>A	ENST00000534940.1	-	6	509	c.284C>T	c.(283-285)tCg>tTg	p.S95L	ASMTL_ENST00000463763.1_5'UTR|ASMTL_ENST00000381333.4_Missense_Mutation_p.S137L|ASMTL_ENST00000381317.3_Missense_Mutation_p.S153L|ASMTL_ENST00000416733.2_Missense_Mutation_p.S77L	NM_001173473.1	NP_001166944.1	O95671	ASML_HUMAN	acetylserotonin O-methyltransferase-like	153	MAF-like.				melatonin biosynthetic process	cytoplasm	acetylserotonin O-methyltransferase activity			NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(9)|pancreas(1)|soft_tissue(1)	23		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GGACAGCTCCGAGAACTTCAC	0.637													27	18					0	0	1	0	0	A	1551213	G	A	1551213	3	1	48	1	0	0	0	0	1	0	0	0	1045	1059	37	1	1439	1	ASMTL	23	1551213	Missense_Mutation	SNP	G	TCGA-DB-A64W-01A-11D-A29Q-08		1551213	153719347	44	2038											
NHS	4810	broad.mit.edu	37	X	17744930	17744930	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DB-A64W-01A-11D-A29Q-08	TCGA-DB-A64W-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e7f9bb4-37b2-4e68-8a34-a2388eac7ba0	5bb15587-a86c-4da2-be1d-7b1fa9f105a8	g.chrX:17744930G>T	ENST00000380060.3	+	6	2979	c.2641G>T	c.(2641-2643)Gaa>Taa	p.E881*	NHS_ENST00000398097.3_Nonsense_Mutation_p.E725*	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	881						nucleus				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					TTCTCGAATGGAAAACGCCAA	0.468													68	78					1.34159e-35	1.38352e-35	1	1	0	T	17744930	G	T	17744930	4	4	48	1	0	0	0	0	0	1	0	0	10458	1175	41	5	2768	5	NHS	23	17744930	Nonsense_Mutation	SNP	G	TCGA-DB-A64W-01A-11D-A29Q-08	16193717	17744930	137525630	45	2039											
GK	2710	broad.mit.edu	37	X	30739086	30739086	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A64W-01A-11D-A29Q-08	TCGA-DB-A64W-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e7f9bb4-37b2-4e68-8a34-a2388eac7ba0	5bb15587-a86c-4da2-be1d-7b1fa9f105a8	g.chrX:30739086G>A	ENST00000378943.3	+	17	1636	c.1457G>A	c.(1456-1458)cGg>cAg	p.R486Q	GK-AS1_ENST00000464659.1_RNA|RP11-242C19.2_ENST00000497961.1_RNA|GK_ENST00000378945.3_Missense_Mutation_p.R486Q|GK_ENST00000427190.1_Missense_Mutation_p.R287Q|GK_ENST00000378946.3_Missense_Mutation_p.R492Q	NM_001128127.2	NP_001121599.1	P32189	GLPK_HUMAN	glycerol kinase	492					glycerol-3-phosphate metabolic process|triglyceride biosynthetic process	cytosol|mitochondrial outer membrane	ATP binding|glycerol kinase activity			central_nervous_system(1)|large_intestine(3)	4						ACGATGGAGCGGTTTGAACCT	0.502													21	25					0	0	1	0	0	A	30739086	G	A	30739086	3	1	48	1	0	0	0	0	1	0	0	0	6462	1116	39	1	1545	1	GK	23	30739086	Missense_Mutation	SNP	G	TCGA-DB-A64W-01A-11D-A29Q-08	12994156	30739086	124531474	46	2040											
BCOR	54880	broad.mit.edu	37	X	39930292	39930292	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DB-A64W-01A-11D-A29Q-08	TCGA-DB-A64W-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e7f9bb4-37b2-4e68-8a34-a2388eac7ba0	5bb15587-a86c-4da2-be1d-7b1fa9f105a8	g.chrX:39930292delG	ENST00000342274.4	-	6	3534	c.3172delC	c.(3172-3174)cagfs	p.Q1058fs	BCOR_ENST00000378455.4_Frame_Shift_Del_p.Q1040fs|BCOR_ENST00000397354.3_Frame_Shift_Del_p.Q1058fs|BCOR_ENST00000378444.4_Frame_Shift_Del_p.Q1058fs	NM_001123383.1	NP_001116855.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	1058					heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						TTTTTGTCCTGATTTCCTTTC	0.493			"F, N, S, T"	RARA	"retinoblastoma, AML, APL(translocation)"		oculo-facio-cardio-dental genetic						40	58	---	---	---	---						-	39930292	G	-	39930292	7	5	48	1	0	1	0	1	0	0	0	0	1384	1299	45	0	2135	0	BCOR	23	39930292	Frame_Shift_Del	DEL	G	TCGA-DB-A64W-01A-11D-A29Q-08	9191206	39930292	115340268	47	2041											
TRO	7216	broad.mit.edu	37	X	54957391	54957391	+	Missense_Mutation	SNP	A	A	T			TCGA-DB-A64W-01A-11D-A29Q-08	TCGA-DB-A64W-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e7f9bb4-37b2-4e68-8a34-a2388eac7ba0	5bb15587-a86c-4da2-be1d-7b1fa9f105a8	g.chrX:54957391A>T	ENST00000173898.7	+	12	4346	c.4234A>T	c.(4234-4236)Acc>Tcc	p.T1412S	TRO_ENST00000375022.4_Intron|TRO_ENST00000399736.1_Intron|TRO_ENST00000420798.2_Missense_Mutation_p.T943S|TRO_ENST00000375041.2_Missense_Mutation_p.T1015S|TRO_ENST00000319167.8_Intron	NM_001039705.2	NP_001034794.1	Q12816	TROP_HUMAN	trophinin	1412	62 X 10 AA approximate tandem repeats.				embryo implantation|homophilic cell adhesion	integral to plasma membrane				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						TGGACCGAGCACCAGTGCTGG	0.587													23	26					0	0	1	0	0	T	54957391	A	T	54957391	3	4	48	1	0	0	0	0	1	0	0	0	16635	159	6	5	4276	5	TRO	23	54957391	Missense_Mutation	SNP	A	TCGA-DB-A64W-01A-11D-A29Q-08	15027099	54957391	100313169	48	2042											
USP26	83844	broad.mit.edu	37	X	132159579	132159579	+	Silent	SNP	T	T	C			TCGA-DB-A64W-01A-11D-A29Q-08	TCGA-DB-A64W-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e7f9bb4-37b2-4e68-8a34-a2388eac7ba0	5bb15587-a86c-4da2-be1d-7b1fa9f105a8	g.chrX:132159579T>C	ENST00000511190.1	-	6	3139	c.2670A>G	c.(2668-2670)gaA>gaG	p.E890E	USP26_ENST00000406273.1_Silent_p.E890E|USP26_ENST00000370832.1_Silent_p.E890E	NM_031907.1	NP_114113.1	Q9BXU7	UBP26_HUMAN	ubiquitin specific peptidase 26	890					protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60	Acute lymphoblastic leukemia(192;0.000127)					TCAACATCTCTTCAAAGATCT	0.458													29	38					0	0	1	0	0	C	132159579	T	C	132159579	2	2	48	1	0	0	0	0	0	0	0	1	17117	1606	56	3		3	USP26	23	132159579	Silent	SNP	T	TCGA-DB-A64W-01A-11D-A29Q-08	77202188	132159579	23110981	49	2043											
GPR112	139378	broad.mit.edu	37	X	135405392	135405392	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A64W-01A-11D-A29Q-08	TCGA-DB-A64W-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e7f9bb4-37b2-4e68-8a34-a2388eac7ba0	5bb15587-a86c-4da2-be1d-7b1fa9f105a8	g.chrX:135405392C>T	ENST00000394143.1	+	5	817	c.526C>T	c.(526-528)Cgt>Tgt	p.R176C	GPR112_ENST00000412101.1_Intron|GPR112_ENST00000370652.1_Missense_Mutation_p.R176C|GPR112_ENST00000287534.4_Missense_Mutation_p.R113C|GPR112_ENST00000394141.1_Intron	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	176					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.R176S(2)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					AAGCATGATGCGTAGCTTTCC	0.448													79	85					0	0	1	0	0	T	135405392	C	T	135405392	3	4	48	1	0	0	0	0	1	0	0	0	6669	768	27	1	532	1	GPR112	23	135405392	Missense_Mutation	SNP	C	TCGA-DB-A64W-01A-11D-A29Q-08	3245813	135405392	19865168	50	2044											
AFF2	2334	broad.mit.edu	37	X	148068962	148068962	+	Missense_Mutation	SNP	A	A	G			TCGA-DB-A64W-01A-11D-A29Q-08	TCGA-DB-A64W-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e7f9bb4-37b2-4e68-8a34-a2388eac7ba0	5bb15587-a86c-4da2-be1d-7b1fa9f105a8	g.chrX:148068962A>G	ENST00000370460.2	+	20	4168	c.3689A>G	c.(3688-3690)aAt>aGt	p.N1230S	AFF2_ENST00000370457.5_Missense_Mutation_p.N1195S|AFF2_ENST00000286437.5_Missense_Mutation_p.N871S|AFF2_ENST00000342251.3_Missense_Mutation_p.N1197S	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	1230					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					AACTGTAACAATGGCCCAGTC	0.532													67	86					0	0	1	0	0	G	148068962	A	G	148068962	3	3	48	1	0	0	0	0	1	0	0	0	356	101	4	3	3822	3	AFF2	23	148068962	Missense_Mutation	SNP	A	TCGA-DB-A64W-01A-11D-A29Q-08	12663570	148068962	7201598	51	2045											
PRDM2	7799	broad.mit.edu	37	1	14107261	14107261	+	Missense_Mutation	SNP	C	C	G			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr1:14107261C>G	ENST00000235372.7	+	8	3827	c.2971C>G	c.(2971-2973)Cct>Gct	p.P991A	PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000343137.4_Missense_Mutation_p.P790A|PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000311066.5_Missense_Mutation_p.P991A|PRDM2_ENST00000413440.1_Missense_Mutation_p.P790A|PRDM2_ENST00000505823.1_Intron	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	991	Pro-rich.					Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		TCCCCTCCTTCCTACCGTACC	0.602													8	114					0	0	1	0	0	G	14107261	C	G	14107261	3	3	49	1	0	0	0	0	1	0	0	0	12510	855	30	5	2997	5	PRDM2	1	14107261	Missense_Mutation	SNP	C	TCGA-DB-A64X-01A-11D-A29Q-08		14107261	235143360	1	2046											
EIF4G3	8672	broad.mit.edu	37	1	21306934	21306934	+	Missense_Mutation	SNP	T	T	C			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr1:21306934T>C	ENST00000602326.1	-	8	822	c.239A>G	c.(238-240)cAt>cGt	p.H80R	EIF4G3_ENST00000374927.4_Missense_Mutation_p.H73R|EIF4G3_ENST00000356916.3_Missense_Mutation_p.H84R|EIF4G3_ENST00000374937.3_Missense_Mutation_p.H80R|EIF4G3_ENST00000400422.1_Missense_Mutation_p.H73R|EIF4G3_ENST00000264211.8_Missense_Mutation_p.H73R|EIF4G3_ENST00000374935.3_Missense_Mutation_p.H73R	NM_001198802.1	NP_001185731.1	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	73					interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|RNA cap binding|translation initiation factor activity			endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		AGGGCCACTATGACGGTACTA	0.423													4	14					0	0	1	0	0	C	21306934	T	C	21306934	3	2	49	1	0	0	0	0	1	0	0	0	5066	1464	51	3	4651	3	EIF4G3	1	21306934	Missense_Mutation	SNP	T	TCGA-DB-A64X-01A-11D-A29Q-08	7199673	21306934	227943687	2	2047											
HSPG2	3339	broad.mit.edu	37	1	22159014	22159014	+	Silent	SNP	G	G	A			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr1:22159014G>A	ENST00000374695.3	-	81	11260	c.11181C>T	c.(11179-11181)ggC>ggT	p.G3727G		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	3727	Laminin G-like 1.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	CCCCCACGAGGCCGAAGGAGA	0.662													46	33					0	0	1	0	0	A	22159014	G	A	22159014	2	1	49	1	0	0	0	0	0	0	0	1	7474	1190	42	2		2	HSPG2	1	22159014	Silent	SNP	G	TCGA-DB-A64X-01A-11D-A29Q-08	852080	22159014	227091607	3	2048											
EPHA8	2046	broad.mit.edu	37	1	22913059	22913059	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr1:22913059G>A	ENST00000166244.3	+	4	982	c.910G>A	c.(910-912)Gcc>Acc	p.A304T	EPHA8_ENST00000538803.1_Missense_Mutation_p.A304T|EPHA8_ENST00000374644.4_Missense_Mutation_p.A304T	NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	304	Cys-rich.					integral to plasma membrane	ATP binding|ephrin receptor activity	p.A304T(2)		breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		AGCTCCAGCCGCCCAAGCCTG	0.657													9	66					0	0	1	0	0	A	22913059	G	A	22913059	3	1	49	1	0	0	0	0	1	0	0	0	5201	1087	38	1	924	1	EPHA8	1	22913059	Missense_Mutation	SNP	G	TCGA-DB-A64X-01A-11D-A29Q-08	754045	22913059	226337562	4	2049											
SYTL1	84958	broad.mit.edu	37	1	27674019	27674019	+	Missense_Mutation	SNP	A	A	T			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr1:27674019A>T	ENST00000543823.1	+	2	761	c.299A>T	c.(298-300)gAc>gTc	p.D100V	SYTL1_ENST00000318074.5_Missense_Mutation_p.D100V			Q8IYJ3	SYTL1_HUMAN	synaptotagmin-like 1	100					exocytosis|intracellular protein transport	extrinsic to plasma membrane|melanosome|soluble fraction	neurexin binding|Rab GTPase binding			NS(1)|large_intestine(4)|lung(5)|ovary(1)|urinary_tract(1)	12		Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.0115)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0908)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.5e-28)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.0013)|KIRC - Kidney renal clear cell carcinoma(1967;0.00158)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		TTCGGCTCTGACCTTGTCCGA	0.642													5	70					0	0	1	0	0	T	27674019	A	T	27674019	3	4	49	1	0	0	0	0	1	0	0	0	15539	275	10	5	305	5	SYTL1	1	27674019	Missense_Mutation	SNP	A	TCGA-DB-A64X-01A-11D-A29Q-08	4760960	27674019	221576602	5	2050											
EPHA10	284656	broad.mit.edu	37	1	38184352	38184352	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr1:38184352C>T	ENST00000373048.4	-	16	2892	c.2893G>A	c.(2893-2895)Gtg>Atg	p.V965M	EPHA10_ENST00000446149.2_5'UTR|EPHA10_ENST00000330210.7_Missense_Mutation_p.V460M|EPHA10_ENST00000427468.2_Missense_Mutation_p.V965M|EPHA10_ENST00000540011.1_3'UTR	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN	EPH receptor A10	965	SAM.					extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity			NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				ATCTCGGCCACGGCCTCCAGG	0.667													5	48					0	0	1	0	0	T	38184352	C	T	38184352	3	4	49	1	0	0	0	0	1	0	0	0	5194	536	19	1	141	1	EPHA10	1	38184352	Missense_Mutation	SNP	C	TCGA-DB-A64X-01A-11D-A29Q-08	10510333	38184352	211066269	6	2051											
ZMYND12	84217	broad.mit.edu	37	1	42915623	42915623	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr1:42915623C>T	ENST00000372565.3	-	2	487	c.218G>A	c.(217-219)cGg>cAg	p.R73Q	ZMYND12_ENST00000433602.2_Silent_p.T20T	NM_032257.4	NP_115633.3	Q9H0C1	ZMY12_HUMAN	zinc finger, MYND-type containing 12	73						intracellular	zinc ion binding			NS(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|skin(2)	17	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GCCATGCTGCCGTTCTTCCTC	0.547													4	61					0	0	1	0	0	T	42915623	C	T	42915623	3	4	49	1	0	0	0	0	1	0	0	0	17765	652	23	1	907	1	ZMYND12	1	42915623	Missense_Mutation	SNP	C	TCGA-DB-A64X-01A-11D-A29Q-08	4731271	42915623	206334998	7	2052											
KDM4A	9682	broad.mit.edu	37	1	44132737	44132737	+	Missense_Mutation	SNP	T	T	C			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr1:44132737T>C	ENST00000372396.3	+	8	1024	c.890T>C	c.(889-891)aTt>aCt	p.I297T		NM_014663.2	NP_055478.2	O75164	KDM4A_HUMAN	lysine (K)-specific demethylase 4A	297	JmjC.				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleolus	histone demethylase activity (H3-K36 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(13)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	37						CGTCGGTGGATTGAGTACGGC	0.443													4	79					0	0	1	0	0	C	44132737	T	C	44132737	3	2	49	1	0	0	0	0	1	0	0	0	8172	1493	52	3	916	3	KDM4A	1	44132737	Missense_Mutation	SNP	T	TCGA-DB-A64X-01A-11D-A29Q-08	1217114	44132737	205117884	8	2053											
CYP4A22	284541	broad.mit.edu	37	1	47607808	47607808	+	Missense_Mutation	SNP	G	G	C			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr1:47607808G>C	ENST00000371891.3	+	4	442	c.411G>C	c.(409-411)caG>caC	p.Q137H	CYP4A22-AS1_ENST00000444042.2_lincRNA|CYP4A22_ENST00000485117.1_3'UTR|CYP4A22_ENST00000371890.3_Missense_Mutation_p.Q137H|CYP4A22_ENST00000294337.3_Missense_Mutation_p.Q137H	NM_001010969.2	NP_001010969.2	Q5TCH4	CP4AM_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 22	137						endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TGAATGGGCAGACATGGTTCC	0.532													33	49					0	0	1	0	0	C	47607808	G	C	47607808	3	2	49	1	0	0	0	0	1	0	0	0	4207	933	33	4	425	4	CYP4A22	1	47607808	Missense_Mutation	SNP	G	TCGA-DB-A64X-01A-11D-A29Q-08	3475071	47607808	201642813	9	2054											
NEGR1	257194	broad.mit.edu	37	1	72163701	72163701	+	Silent	SNP	A	A	G			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr1:72163701A>G	ENST00000357731.5	-	4	896	c.657T>C	c.(655-657)gtT>gtC	p.V219V	NEGR1_ENST00000467479.1_5'UTR|NEGR1_ENST00000306821.3_Silent_p.V91V|NEGR1_ENST00000434200.1_Intron	NM_173808.2	NP_776169.2	Q7Z3B1	NEGR1_HUMAN	neuronal growth regulator 1		Ig-like C2-type 2.				cell adhesion	anchored to membrane|plasma membrane				endometrium(1)|kidney(4)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(4;1.26e-06)|Renal(4;1.32e-08)|all_epithelial(4;5.39e-07)|Hepatocellular(141;0.117)		KIRC - Kidney renal clear cell carcinoma(4;0.00529)|Kidney(4;0.00609)|all cancers(265;0.022)|GBM - Glioblastoma multiforme(62;0.0382)|Epithelial(280;0.242)		AGTTGACAACAACTTTTACTT	0.348													16	16					0	0	1	0	0	G	72163701	A	G	72163701	2	3	49	1	0	0	0	0	0	0	0	1	10364	117	5	3		3	NEGR1	1	72163701	Silent	SNP	A	TCGA-DB-A64X-01A-11D-A29Q-08	24555893	72163701	177086920	10	2055											
ZNF644	84146	broad.mit.edu	37	1	91406264	91406264	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr1:91406264C>T	ENST00000370440.1	-	3	864	c.647G>A	c.(646-648)gGc>gAc	p.G216D	ZNF644_ENST00000337393.5_Missense_Mutation_p.G216D|ZNF644_ENST00000361321.5_Intron|ZNF644_ENST00000347275.5_Intron|ZNF644_ENST00000467231.1_Intron			Q9H582	ZN644_HUMAN	zinc finger protein 644	216					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	47		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		TATTAAAGTGCCATCTGACTT	0.388													4	140					0	0	1	0	0	T	91406264	C	T	91406264	3	4	49	1	0	0	0	0	1	0	0	0	18117	739	26	2	3352	2	ZNF644	1	91406264	Missense_Mutation	SNP	C	TCGA-DB-A64X-01A-11D-A29Q-08	19242563	91406264	157844357	11	2056											
SLC30A7	148867	broad.mit.edu	37	1	101377773	101377773	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr1:101377773C>T	ENST00000370112.4	+	5	677	c.490C>T	c.(490-492)Cat>Tat	p.H164Y	SLC30A7_ENST00000357650.4_Missense_Mutation_p.H164Y	NM_001144884.1|NM_133496.4	NP_001138356.1|NP_598003.2	Q8NEW0	ZNT7_HUMAN	solute carrier family 30 (zinc transporter), member 7	164	His-rich loop.				zinc ion transport	Golgi apparatus|integral to membrane	cation transmembrane transporter activity|protein binding			endometrium(3)|large_intestine(2)|lung(10)	15		all_epithelial(167;0.000445)|all_lung(203;0.00645)|Lung NSC(277;0.0119)		Epithelial(280;0.0437)|all cancers(265;0.0498)|COAD - Colon adenocarcinoma(174;0.162)|Colorectal(144;0.19)|Lung(183;0.201)		ACATGGAGGTCATGGACATTC	0.373													5	128					0	0	1	0	0	T	101377773	C	T	101377773	3	4	49	1	0	0	0	0	1	0	0	0	14615	826	29	2	508	2	SLC30A7	1	101377773	Missense_Mutation	SNP	C	TCGA-DB-A64X-01A-11D-A29Q-08	9971509	101377773	147872848	12	2057											
AHCYL1	10768	broad.mit.edu	37	1	110551714	110551714	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr1:110551714G>A	ENST00000369799.5	+	2	546	c.179G>A	c.(178-180)cGa>cAa	p.R60Q	AHCYL1_ENST00000393614.4_Missense_Mutation_p.R13Q|AHCYL1_ENST00000475081.1_3'UTR|AHCYL1_ENST00000359172.3_Missense_Mutation_p.R13Q	NM_001242673.1|NM_001242674.1|NM_006621.5	NP_001229602.1|NP_001229603.1|NP_006612.2	O43865	SAHH2_HUMAN	adenosylhomocysteinase-like 1	60					one-carbon metabolic process	endoplasmic reticulum	adenosylhomocysteinase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)	18		all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0259)|Colorectal(144;0.123)|all cancers(265;0.134)|Epithelial(280;0.141)|LUSC - Lung squamous cell carcinoma(189;0.143)		AAAACTGGCCGAAGATCTTTG	0.433													24	57					0	0	1	0	0	A	110551714	G	A	110551714	3	1	49	1	0	0	0	0	1	0	0	0	407	1058	37	1	185	1	AHCYL1	1	110551714	Missense_Mutation	SNP	G	TCGA-DB-A64X-01A-11D-A29Q-08	9173941	110551714	138698907	13	2058											
ARHGEF11	9826	broad.mit.edu	37	1	156916463	156916463	+	Silent	SNP	G	G	C			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr1:156916463G>C	ENST00000368194.3	-	28	3724	c.2685C>G	c.(2683-2685)ctC>ctG	p.L895L	ARHGEF11_ENST00000315174.8_Silent_p.L271L|ARHGEF11_ENST00000361409.2_Silent_p.L855L	NM_198236.2	NP_937879.1	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	855	DH.				actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction	cytosol|Golgi apparatus|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CCTGCATGAAGAGCTGGAATC	0.522													4	210					0	0	1	0	0	C	156916463	G	C	156916463	2	2	49	1	0	0	0	0	0	0	0	1	893	929	33	4		4	ARHGEF11	1	156916463	Silent	SNP	G	TCGA-DB-A64X-01A-11D-A29Q-08	46364749	156916463	92334158	14	2059											
FMO4	2329	broad.mit.edu	37	1	171300885	171300885	+	Silent	SNP	A	A	G			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr1:171300885A>G	ENST00000367749.3	+	6	921	c.591A>G	c.(589-591)ggA>ggG	p.G197G	FMO4_ENST00000462992.1_3'UTR	NM_002022.1	NP_002013.1	P31512	FMO4_HUMAN	flavin containing monooxygenase 4	197					xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_cancers(6;3.9e-08)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					ACACTGGAGGAGACATTGCTG	0.458													5	136					0	0	1	0	0	G	171300885	A	G	171300885	2	3	49	1	0	0	0	0	0	0	0	1	5990	291	11	3		3	FMO4	1	171300885	Silent	SNP	A	TCGA-DB-A64X-01A-11D-A29Q-08	14384422	171300885	77949736	15	2060											
RAB3GAP2	25782	broad.mit.edu	37	1	220364615	220364615	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr1:220364615C>T	ENST00000358951.2	-	14	1398	c.1282G>A	c.(1282-1284)Gca>Aca	p.A428T		NM_012414.3	NP_036546.2	Q9H2M9	RBGPR_HUMAN	RAB3 GTPase activating protein subunit 2 (non-catalytic)	428					intracellular protein transport	cytoplasm|soluble fraction	GTPase activator activity|protein heterodimerization activity	p.A428T(2)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(131;0.0443)		CCAATTTGTGCGTCGCGGTAC	0.468													9	13					0	0	1	0	0	T	220364615	C	T	220364615	3	4	49	1	0	0	0	0	1	0	0	0	12988	768	27	1	2987	1	RAB3GAP2	1	220364615	Missense_Mutation	SNP	C	TCGA-DB-A64X-01A-11D-A29Q-08	49063730	220364615	28886006	16	2061											
MIA3	375056	broad.mit.edu	37	1	222801580	222801580	+	Missense_Mutation	SNP	A	A	G			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr1:222801580A>G	ENST00000344922.5	+	4	1043	c.1018A>G	c.(1018-1020)Aaa>Gaa	p.K340E	MIA3_ENST00000470521.1_3'UTR|MIA3_ENST00000344507.1_Missense_Mutation_p.K340E|MIA3_ENST00000344441.6_Missense_Mutation_p.K340E	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	340					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)		GGAAGATATGAAAACTCCAGC	0.413													33	41					0	0	1	0	0	G	222801580	A	G	222801580	3	3	49	1	0	0	0	0	1	0	0	0	9614	247	9	3	1032	3	MIA3	1	222801580	Missense_Mutation	SNP	A	TCGA-DB-A64X-01A-11D-A29Q-08	2436965	222801580	26449041	17	2062											
OR2T2	401992	broad.mit.edu	37	1	248616334	248616334	+	Missense_Mutation	SNP	T	T	C			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr1:248616334T>C	ENST00000342927.3	+	1	258	c.236T>C	c.(235-237)gTc>gCc	p.V79A		NM_001004136.1	NP_001004136.1	Q6IF00	OR2T2_HUMAN	olfactory receptor, family 2, subfamily T, member 2	79					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	37	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TGTATCACTGTCCCCAAGATG	0.522													8	187					0	0	1	0	0	C	248616334	T	C	248616334	3	2	49	1	0	0	0	0	1	0	0	0	11068	1667	58	3	238	3	OR2T2	1	248616334	Missense_Mutation	SNP	T	TCGA-DB-A64X-01A-11D-A29Q-08	25814754	248616334	634287	18	2063											
TTN	7273	broad.mit.edu	37	2	179395863	179395863	+	Missense_Mutation	SNP	A	A	G			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr2:179395863A>G	ENST00000589042.1	-	358	105703	c.105479T>C	c.(105478-105480)gTg>gCg	p.V35160A	TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V32592A|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V26220A|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V26287A|TTN_ENST00000591111.1_Missense_Mutation_p.V33519A|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000589355.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.V26095A|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590807.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	33519							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAGCCAGGTCACAGTTGGTAC	0.512													89	132					0	0	1	0	0	G	179395863	A	G	179395863	3	3	49	1	0	0	0	0	1	0	0	0	16797	159	6	3	2520	3	TTN	2	179395863	Missense_Mutation	SNP	A	TCGA-DB-A64X-01A-11D-A29Q-08		179395863	63803510	19	2064											
TTN	7273	broad.mit.edu	37	2	179612750	179612750	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr2:179612750C>T	ENST00000360870.5	-	46	14599	c.14377G>A	c.(14377-14379)Gca>Aca	p.A4793T	TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	902	Ig-like 28.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTGGAAATGCTGCCAACTCT	0.458													3	29					0	0	1	0	0	T	179612750	C	T	179612750	3	4	49	1	0	0	0	0	1	0	0	0	16797	797	28	2	95920	2	TTN	2	179612750	Missense_Mutation	SNP	C	TCGA-DB-A64X-01A-11D-A29Q-08	216887	179612750	63586623	20	2065											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	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	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								13	19					0	0	1	0	0	T	209113112	C	T	209113112	3	4	49	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-DB-A64X-01A-11D-A29Q-08	29500362	209113112	34086261	21	2066											
FANCD2	2177	broad.mit.edu	37	3	10123119	10123119	+	Silent	SNP	G	G	A			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr3:10123119G>A	ENST00000287647.3	+	32	3288	c.3195G>A	c.(3193-3195)ctG>ctA	p.L1065L	FANCD2_ENST00000383806.1_Silent_p.L1065L|FANCD2OS_ENST00000524279.1_3'UTR|FANCD2_ENST00000419585.1_Silent_p.L1065L|FANCD2OS_ENST00000436517.1_5'UTR|FANCD2_ENST00000383807.1_Silent_p.L1065L	NM_033084.3	NP_149075.2	Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	1065					DNA repair|response to gamma radiation	nucleoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		ATCAGAGGCTGCTGCAGATTT	0.418			"D, Mis, N, F"			"AML, leukemia"		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				7	153					0	0	1	0	0	A	10123119	G	A	10123119	2	1	49	1	0	0	0	0	0	0	0	1	5698	1306	46	2		2	FANCD2	3	10123119	Silent	SNP	G	TCGA-DB-A64X-01A-11D-A29Q-08		10123119	187899311	22	2067											
STAB1	23166	broad.mit.edu	37	3	52554824	52554824	+	Missense_Mutation	SNP	G	G	T			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr3:52554824G>T	ENST00000321725.6	+	55	5787	c.5711G>T	c.(5710-5712)aGc>aTc	p.S1904I		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	1904					cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		GCCCAGGGCAGCCCTGAGGCC	0.652													19	353					2.4624e-09	2.56331e-09	1	1	0	T	52554824	G	T	52554824	3	4	49	1	0	0	0	0	1	0	0	0	15293	971	34	4	5929	4	STAB1	3	52554824	Missense_Mutation	SNP	G	TCGA-DB-A64X-01A-11D-A29Q-08	42431705	52554824	145467606	23	2068											
TMEM110	375346	broad.mit.edu	37	3	52877766	52877766	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr3:52877766C>T	ENST00000355083.5	-	6	734	c.589G>A	c.(589-591)Gtc>Atc	p.V197I	TMEM110-MUSTN1_ENST00000504329.1_Missense_Mutation_p.V197I	NM_198563.2	NP_940965.1			transmembrane protein 110											kidney(1)|large_intestine(1)|lung(2)	4				BRCA - Breast invasive adenocarcinoma(193;7.72e-05)|Kidney(197;0.000777)|KIRC - Kidney renal clear cell carcinoma(197;0.000915)|OV - Ovarian serous cystadenocarcinoma(275;0.0541)		ATCAGCATGACGATGGCCAGC	0.517													9	114					0	0	1	0	0	T	52877766	C	T	52877766	3	4	49	1	0	0	0	0	1	0	0	0	16087	536	19	1	307	1	TMEM110	3	52877766	Missense_Mutation	SNP	C	TCGA-DB-A64X-01A-11D-A29Q-08	322942	52877766	145144664	24	2069											
POLQ	10721	broad.mit.edu	37	3	121206245	121206245	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr3:121206245G>A	ENST00000264233.5	-	16	5661	c.5533C>T	c.(5533-5535)Cgg>Tgg	p.R1845W		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	1845					DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		TTTTTGCACCGCCACTCCTTA	0.383								DNA polymerases (catalytic subunits)					4	47					0	0	1	0	0	A	121206245	G	A	121206245	3	1	49	1	0	0	0	0	1	0	0	0	12256	1086	38	1	2299	1	POLQ	3	121206245	Missense_Mutation	SNP	G	TCGA-DB-A64X-01A-11D-A29Q-08	68328479	121206245	76816185	25	2070											
RYK	6259	broad.mit.edu	37	3	133878164	133878164	+	Silent	SNP	G	G	A			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr3:133878164G>A	ENST00000427044.2	-	15	1672	c.1062C>T	c.(1060-1062)taC>taT	p.Y354Y	RYK_ENST00000296084.4_Silent_p.Y544Y			P34925	RYK_HUMAN	receptor-like tyrosine kinase	540	Protein kinase.				corpus callosum development|positive regulation of MAPKKK cascade|Wnt receptor signaling pathway	cytoplasm|integral to plasma membrane|nucleus	ATP binding|transmembrane receptor protein tyrosine kinase activity			lung(1)|ovary(3)	4						CAATGTCCACGTAGGGAGTCT	0.488													6	26					0	0	1	0	0	A	133878164	G	A	133878164	2	1	49	1	0	0	0	0	0	0	0	1	13819	1140	40	1		1	RYK	3	133878164	Silent	SNP	G	TCGA-DB-A64X-01A-11D-A29Q-08	12671919	133878164	64144266	26	2071											
LPHN3	23284	broad.mit.edu	37	4	62800561	62800561	+	Missense_Mutation	SNP	A	A	G			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr4:62800561A>G	ENST00000512091.2	+	13	2659	c.1912A>G	c.(1912-1914)Atg>Gtg	p.M638V	LPHN3_ENST00000514157.1_Missense_Mutation_p.M638V|LPHN3_ENST00000508946.1_Missense_Mutation_p.M638V|LPHN3_ENST00000508693.1_Missense_Mutation_p.M706V|LPHN3_ENST00000506700.1_Missense_Mutation_p.M638V|LPHN3_ENST00000504896.1_Missense_Mutation_p.M638V|LPHN3_ENST00000511324.1_Missense_Mutation_p.M706V|LPHN3_ENST00000545650.1_Missense_Mutation_p.M638V|LPHN3_ENST00000508078.1_3'UTR|LPHN3_ENST00000514591.1_Missense_Mutation_p.M638V|LPHN3_ENST00000506720.1_Missense_Mutation_p.M706V|LPHN3_ENST00000507625.1_Missense_Mutation_p.M706V|LPHN3_ENST00000514996.1_Missense_Mutation_p.M638V|LPHN3_ENST00000509896.1_Missense_Mutation_p.M706V|LPHN3_ENST00000506746.1_Missense_Mutation_p.M706V|LPHN3_ENST00000507164.1_Missense_Mutation_p.M706V			Q9HAR2	LPHN3_HUMAN	latrophilin 3						neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						CTTGTAGGCAATGGTCGAGAC	0.493													3	24					0	0	1	0	0	G	62800561	A	G	62800561	3	3	49	1	0	0	0	0	1	0	0	0	8962	101	4	3	1954	3	LPHN3	4	62800561	Missense_Mutation	SNP	A	TCGA-DB-A64X-01A-11D-A29Q-08		62800561	128353715	27	2072											
TMPRSS11F	389208	broad.mit.edu	37	4	68930540	68930540	+	Missense_Mutation	SNP	T	T	C	rs145412545		TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr4:68930540T>C	ENST00000356291.2	-	8	937	c.878A>G	c.(877-879)gAc>gGc	p.D293G	UBA6-AS1_ENST00000500538.2_RNA|UBA6-AS1_ENST00000511571.1_RNA|UBA6-AS1_ENST00000499180.2_RNA	NM_207407.2	NP_997290.2	Q6ZWK6	TM11F_HUMAN	transmembrane protease, serine 11F	293	Peptidase S1.				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(4)	39						CAAAGCAATGTCATTTTCATT	0.378													5	28					0	0	1	0	0	C	68930540	T	C	68930540	3	2	49	1	0	0	0	0	1	0	0	0	16303	1667	58	3	450	3	TMPRSS11F	4	68930540	Missense_Mutation	SNP	T	TCGA-DB-A64X-01A-11D-A29Q-08	6129979	68930540	122223736	28	2073											
ENAM	10117	broad.mit.edu	37	4	71510353	71510353	+	Silent	SNP	C	C	T			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr4:71510353C>T	ENST00000396073.3	+	9	3491	c.3210C>T	c.(3208-3210)acC>acT	p.T1070T	ENAM_ENST00000472903.1_Intron	NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	1070					bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel			haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			CTTCCACCACCGGAACTCCAT	0.448													5	83					0	0	1	0	0	T	71510353	C	T	71510353	2	4	49	1	0	0	0	0	0	0	0	1	5140	639	23	1		1	ENAM	4	71510353	Silent	SNP	C	TCGA-DB-A64X-01A-11D-A29Q-08	2579813	71510353	119643923	29	2074											
CXCL5	6374	broad.mit.edu	37	4	74863731	74863731	+	Silent	SNP	G	G	A			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr4:74863731G>A	ENST00000296027.4	-	3	521	c.324C>T	c.(322-324)gaC>gaT	p.D108D		NM_002994.3	NP_002985.1	P42830	CXCL5_HUMAN	chemokine (C-X-C motif) ligand 5	108					cell-cell signaling|chemotaxis|immune response|positive regulation of cell proliferation|signal transduction	extracellular space	chemokine activity	p.D108D(1)		endometrium(3)|large_intestine(2)|lung(3)|urinary_tract(1)	9	Breast(15;0.00136)		all cancers(17;0.00273)|Lung(101;0.196)			ACAAGTACCCGTCCAAAATTT	0.388													35	45					0	0	1	0	0	A	74863731	G	A	74863731	2	1	49	1	0	0	0	0	0	0	0	1	4110	1136	40	1		1	CXCL5	4	74863731	Silent	SNP	G	TCGA-DB-A64X-01A-11D-A29Q-08	3353378	74863731	116290545	30	2075											
SEPT11	55752	broad.mit.edu	37	4	77941664	77941664	+	Missense_Mutation	SNP	A	A	G			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr4:77941664A>G	ENST00000264893.6	+	7	995	c.794A>G	c.(793-795)gAa>gGa	p.E265G	SEPT11_ENST00000505788.1_Missense_Mutation_p.E265G|SEPT11_ENST00000502584.1_Missense_Mutation_p.E265G|SEPT11_ENST00000541121.1_Missense_Mutation_p.E275G|SEPT11_ENST00000512575.1_Intron|SEPT11_ENST00000510515.1_Missense_Mutation_p.E275G	NM_018243.2	NP_060713.1	Q9NVA2	SEP11_HUMAN	septin 11	265					cell cycle|cell division|protein heterooligomerization	axon|cell junction|dendritic spine|septin complex|stress fiber|synapse	GTP binding|protein binding			endometrium(2)|kidney(3)|large_intestine(3)|lung(1)|skin(1)|stomach(1)	11						GTTGAGAATGAAAATCATTGC	0.453													8	75					0	0	1	0	0	G	77941664	A	G	77941664	3	3	49	1	0	0	0	0	1	0	0	0	14115	246	9	3	820	3	SEPT11	4	77941664	Missense_Mutation	SNP	A	TCGA-DB-A64X-01A-11D-A29Q-08	3077933	77941664	113212612	31	2076											
BMP2K	55589	broad.mit.edu	37	4	79792136	79792136	+	Silent	SNP	A	A	G			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr4:79792136A>G	ENST00000335016.5	+	11	1597	c.1431A>G	c.(1429-1431)caA>caG	p.Q477Q	BMP2K_ENST00000502871.1_Silent_p.Q477Q	NM_198892.1	NP_942595.1	Q9NSY1	BMP2K_HUMAN	BMP2 inducible kinase	477	Gln/His-rich.			Missing (in Ref. 2; CAB70863).		nucleus	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	13						agcaacagcaacagcagcagc	0.507													5	62					0	0	1	0	0	G	79792136	A	G	79792136	2	3	49	1	0	0	0	0	0	0	0	1	1459	40	2	3		3	BMP2K	4	79792136	Silent	SNP	A	TCGA-DB-A64X-01A-11D-A29Q-08	1850472	79792136	111362140	32	2077											
MMRN1	22915	broad.mit.edu	37	4	90816198	90816198	+	Missense_Mutation	SNP	T	T	C			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr4:90816198T>C	ENST00000394980.1	+	2	395	c.76T>C	c.(76-78)Tct>Cct	p.S26P	MMRN1_ENST00000394981.1_Missense_Mutation_p.S26P|MMRN1_ENST00000264790.2_Missense_Mutation_p.S26P			Q13201	MMRN1_HUMAN	multimerin 1	26					cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		CAGTAAGCATTCTTGGACTAT	0.428													25	93					0	0	1	0	0	C	90816198	T	C	90816198	3	2	49	1	0	0	0	0	1	0	0	0	9719	1783	62	3	78	3	MMRN1	4	90816198	Missense_Mutation	SNP	T	TCGA-DB-A64X-01A-11D-A29Q-08	11024062	90816198	100338078	33	2078											
MMRN1	22915	broad.mit.edu	37	4	90833188	90833188	+	Silent	SNP	A	A	G			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr4:90833188A>G	ENST00000394980.1	+	4	1156	c.837A>G	c.(835-837)aaA>aaG	p.K279K	MMRN1_ENST00000508372.1_Silent_p.K21K|MMRN1_ENST00000394981.1_Silent_p.K245K|MMRN1_ENST00000264790.2_Silent_p.K279K			Q13201	MMRN1_HUMAN	multimerin 1	279	EMI.				cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		GTGGGCCGAAATGTCAACTAA	0.368													13	10					0	0	1	0	0	G	90833188	A	G	90833188	2	3	49	1	0	0	0	0	0	0	0	1	9719	98	4	3		3	MMRN1	4	90833188	Silent	SNP	A	TCGA-DB-A64X-01A-11D-A29Q-08	16990	90833188	100321088	34	2079											
FAT1	2195	broad.mit.edu	37	4	187629810	187629810	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr4:187629810G>A	ENST00000441802.2	-	2	1381	c.1172C>T	c.(1171-1173)gCc>gTc	p.A391V		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	391	Cadherin 3.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						AGCAGGAATGGCCTTTACCAT	0.388										HNSCC(5;0.00058)			12	78					0	0	1	0	0	A	187629810	G	A	187629810	3	1	49	1	0	0	0	0	1	0	0	0	5722	1203	42	2	12698	2	FAT1	4	187629810	Missense_Mutation	SNP	G	TCGA-DB-A64X-01A-11D-A29Q-08	96796622	187629810	3524466	35	2080											
TRIML1	339976	broad.mit.edu	37	4	189065196	189065196	+	Silent	SNP	G	G	A			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr4:189065196G>A	ENST00000332517.3	+	5	905	c.765G>A	c.(763-765)gaG>gaA	p.E255E	TRIML1_ENST00000507581.1_3'UTR	NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	255					multicellular organismal development		ligase activity|zinc ion binding			NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		GCAGGAGCGAGCCACTCTTGC	0.567													5	28					0	0	1	0	0	A	189065196	G	A	189065196	2	1	49	1	0	0	0	0	0	0	0	1	16611	962	34	2		2	TRIML1	4	189065196	Silent	SNP	G	TCGA-DB-A64X-01A-11D-A29Q-08	1435386	189065196	2089080	36	2081											
CDH6	1004	broad.mit.edu	37	5	31297444	31297444	+	Missense_Mutation	SNP	A	A	T			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr5:31297444A>T	ENST00000265071.2	+	4	837	c.572A>T	c.(571-573)tAt>tTt	p.Y191F	CDH6_ENST00000514738.1_Missense_Mutation_p.Y136F	NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	191	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						GATCCAACATATGGGAACAGT	0.363													8	66					0	0	1	0	0	T	31297444	A	T	31297444	3	4	49	1	0	0	0	0	1	0	0	0	3136	449	16	4	582	4	CDH6	5	31297444	Missense_Mutation	SNP	A	TCGA-DB-A64X-01A-11D-A29Q-08		31297444	149617816	37	2082											
DAB2	1601	broad.mit.edu	37	5	39383207	39383207	+	Missense_Mutation	SNP	T	T	G			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr5:39383207T>G	ENST00000320816.6	-	10	1321	c.854A>C	c.(853-855)aAc>aCc	p.N285T	DAB2_ENST00000545653.1_Missense_Mutation_p.N264T|DAB2_ENST00000339788.6_Intron|DAB2_ENST00000509337.1_Missense_Mutation_p.N264T	NM_001343.3	NP_001334.2	P98082	DAB2_HUMAN	Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila)	285					cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway	clathrin coated vesicle membrane|coated pit	protein C-terminus binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	47	all_lung(31;0.000197)		Epithelial(62;0.137)			GGGAAAGAAGTTGAGATTGGC	0.468													6	110					0	0	1	0	0	G	39383207	T	G	39383207	3	3	49	1	0	0	0	0	1	0	0	0	4242	1725	60	5	1478	5	DAB2	5	39383207	Missense_Mutation	SNP	T	TCGA-DB-A64X-01A-11D-A29Q-08	8085763	39383207	141532053	38	2083											
RASGRF2	5924	broad.mit.edu	37	5	80382767	80382767	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr5:80382767G>A	ENST00000265080.4	+	9	1452	c.1385G>A	c.(1384-1386)cGc>cAc	p.R462H	RASGRF2_ENST00000502677.1_3'UTR	NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 2	462					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	protein binding|Rho guanyl-nucleotide exchange factor activity			biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		ACGTTCATCCGCCAAGGTAAG	0.547													34	51					0	0	1	0	0	A	80382767	G	A	80382767	3	1	49	1	0	0	0	0	1	0	0	0	13125	1087	38	1	1419	1	RASGRF2	5	80382767	Missense_Mutation	SNP	G	TCGA-DB-A64X-01A-11D-A29Q-08	40999560	80382767	100532493	39	2084											
RGMB	285704	broad.mit.edu	37	5	98129390	98129390	+	Missense_Mutation	SNP	C	C	G			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr5:98129390C>G	ENST00000308234.7	+	5	1772	c.1370C>G	c.(1369-1371)cCc>cGc	p.P457R	RGMB_ENST00000513185.1_Missense_Mutation_p.P416R	NM_001012761.2	NP_001012779.2	Q6NW40	RGMB_HUMAN	repulsive guidance molecule family member b	416					axon guidance|BMP signaling pathway|cell adhesion|positive regulation of transcription, DNA-dependent	anchored to plasma membrane|ER-Golgi intermediate compartment|membrane raft	identical protein binding			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	10		all_cancers(142;2.76e-08)|all_epithelial(76;2.98e-11)|all_lung(232;0.000485)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0587)		AATGGGACTCCCCGTGGAGGC	0.502													13	11					0	0	1	0	0	G	98129390	C	G	98129390	3	3	49	1	0	0	0	0	1	0	0	0	13333	623	22	5	1384	5	RGMB	5	98129390	Missense_Mutation	SNP	C	TCGA-DB-A64X-01A-11D-A29Q-08	17746623	98129390	82785870	40	2085											
NEUROG1	4762	broad.mit.edu	37	5	134871191	134871191	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr5:134871191delC	ENST00000314744.4	-	1	448	c.190delG	c.(190-192)gcafs	p.A64fs		NM_006161.2	NP_006152.2	Q92886	NGN1_HUMAN	neurogenin 1	64					positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter	nucleus	chromatin binding|E-box binding|sequence-specific DNA binding transcription factor activity|transcription factor binding transcription factor activity			endometrium(1)|liver(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TCGTCCTGTGCCCCTGGAACC	0.756													2	4	---	---	---	---						-	134871191	C	-	134871191	7	5	49	1	0	1	0	1	0	0	0	0	10399	739	26	0	527	0	NEUROG1	5	134871191	Frame_Shift_Del	DEL	C	TCGA-DB-A64X-01A-11D-A29Q-08	36741801	134871191	46044069	41	2086											
CDKAL1	54901	broad.mit.edu	37	6	20846359	20846359	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr6:20846359C>T	ENST00000274695.4	+	9	859	c.692C>T	c.(691-693)gCc>gTc	p.A231V	CDKAL1_ENST00000378624.4_Missense_Mutation_p.A161V|CDKAL1_ENST00000378610.1_Missense_Mutation_p.A231V	NM_017774.3	NP_060244.2	Q5VV42	CDKAL_HUMAN	CDK5 regulatory subunit associated protein 1-like 1	231					RNA modification	integral to membrane	4 iron, 4 sulfur cluster binding|metal ion binding|transferase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|stomach(1)	29	all_epithelial(95;0.0708)|Breast(50;0.131)|Ovarian(93;0.227)		OV - Ovarian serous cystadenocarcinoma(7;0.0241)|all cancers(50;0.123)|Epithelial(50;0.248)			GGAAATTTGGCCAGTTATCCA	0.318													3	39					0	0	1	0	0	T	20846359	C	T	20846359	3	4	49	1	0	0	0	0	1	0	0	0	3174	739	26	2	718	2	CDKAL1	6	20846359	Missense_Mutation	SNP	C	TCGA-DB-A64X-01A-11D-A29Q-08		20846359	150268708	42	2087											
ATF6B	1388	broad.mit.edu	37	6	32088575	32088575	+	Silent	SNP	G	G	A			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr6:32088575G>A	ENST00000375201.4	-	8	841	c.796C>T	c.(796-798)Ctg>Ttg	p.L266L	ATF6B_ENST00000375203.3_Silent_p.L269L			Q99941	ATF6B_HUMAN	activating transcription factor 6 beta	269					response to unfolded protein|signal transduction	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	22						AGGGACTGCAGAAGGACTGTG	0.627													6	215					0	0	1	0	0	A	32088575	G	A	32088575	2	1	49	1	0	0	0	0	0	0	0	1	1084	933	33	2		2	ATF6B	6	32088575	Silent	SNP	G	TCGA-DB-A64X-01A-11D-A29Q-08	11242216	32088575	139026492	43	2088											
BTNL2	56244	broad.mit.edu	37	6	32362767	32362767	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr6:32362767G>A	ENST00000454136.3	-	6	1118	c.1114C>T	c.(1114-1116)Caa>Taa	p.Q372*	BTNL2_ENST00000540315.1_Nonsense_Mutation_p.Q162*|BTNL2_ENST00000414363.1_Nonsense_Mutation_p.Q162*|BTNL2_ENST00000544175.1_Nonsense_Mutation_p.Q95*|BTNL2_ENST00000374993.1_Nonsense_Mutation_p.Q372*|BTNL2_ENST00000429232.2_3'UTR|BTNL2_ENST00000374995.3_Nonsense_Mutation_p.Q278*			Q9UIR0	BTNL2_HUMAN	butyrophilin-like 2 (MHC class II associated)	372						integral to membrane				central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)|urinary_tract(1)	19						CCATCTTCTTGCCCCTCCACA	0.547													23	151					0	0	1	0	0	A	32362767	G	A	32362767	4	1	49	1	0	0	0	0	0	1	0	0	1568	1328	46	2	257	2	BTNL2	6	32362767	Nonsense_Mutation	SNP	G	TCGA-DB-A64X-01A-11D-A29Q-08	274192	32362767	138752300	44	2089											
ITPR3	3710	broad.mit.edu	37	6	33626884	33626884	+	Silent	SNP	C	C	T			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr6:33626884C>T	ENST00000374316.5	+	7	1675	c.615C>T	c.(613-615)gcC>gcT	p.A205A	ITPR3_ENST00000605930.1_Silent_p.A205A			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	205	MIR 2.				activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						GCGACAACGCCGGCTGCAAGG	0.632													55	63					0	0	1	0	0	T	33626884	C	T	33626884	2	4	49	1	0	0	0	0	0	0	0	1	7966	639	23	1		1	ITPR3	6	33626884	Silent	SNP	C	TCGA-DB-A64X-01A-11D-A29Q-08	1264117	33626884	137488183	45	2090											
LGSN	51557	broad.mit.edu	37	6	63995539	63995539	+	Missense_Mutation	SNP	G	G	T			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr6:63995539G>T	ENST00000370658.5	-	3	316	c.283C>A	c.(283-285)Ctc>Atc	p.L95I	LGSN_ENST00000370657.4_Missense_Mutation_p.L95I	NM_001143940.1|NM_016571.2	NP_001137412.1|NP_057655.2	Q5TDP6	LGSN_HUMAN	lengsin, lens protein with glutamine synthetase domain	95					glutamine biosynthetic process		glutamate-ammonia ligase activity			NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34					L-Glutamic Acid(DB00142)	ACGCCGTGGAGGTCTGTTGCT	0.418													15	24					9.16793e-09	9.46607e-09	1	1	0	T	63995539	G	T	63995539	3	4	49	1	0	0	0	0	1	0	0	0	8799	1000	35	4	1254	4	LGSN	6	63995539	Missense_Mutation	SNP	G	TCGA-DB-A64X-01A-11D-A29Q-08	30368655	63995539	107119528	46	2091											
RFX6	222546	broad.mit.edu	37	6	117245848	117245848	+	Silent	SNP	T	T	C			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr6:117245848T>C	ENST00000332958.2	+	15	1588	c.1572T>C	c.(1570-1572)atT>atC	p.I524I		NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	524					glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						TTCATTTGATTCGAATGCTTC	0.388													5	70					0	0	1	0	0	C	117245848	T	C	117245848	2	2	49	1	0	0	0	0	0	0	0	1	13319	1771	62	3		3	RFX6	6	117245848	Silent	SNP	T	TCGA-DB-A64X-01A-11D-A29Q-08	53250309	117245848	53869219	47	2092											
LTV1	84946	broad.mit.edu	37	6	144171327	144171327	+	Silent	SNP	A	A	C			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr6:144171327A>C	ENST00000367576.5	+	4	503	c.369A>C	c.(367-369)ggA>ggC	p.G123G		NM_032860.3	NP_116249.2	Q96GA3	LTV1_HUMAN	LTV1 homolog (S. cerevisiae)	123										breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)	13				OV - Ovarian serous cystadenocarcinoma(155;2.72e-06)|GBM - Glioblastoma multiforme(68;0.0372)		AAGATGTTGGATTGTTAAATA	0.313													4	62					0	0	1	0	0	C	144171327	A	C	144171327	2	2	49	1	0	0	0	0	0	0	0	1	9126	320	12	4		4	LTV1	6	144171327	Silent	SNP	A	TCGA-DB-A64X-01A-11D-A29Q-08	26925479	144171327	26943740	48	2093											
PMS2	5395	broad.mit.edu	37	7	6045580	6045580	+	Missense_Mutation	SNP	T	T	G			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr7:6045580T>G	ENST00000265849.7	-	2	211	c.106A>C	c.(106-108)Agc>Cgc	p.S36R	PMS2_ENST00000382321.4_Missense_Mutation_p.S36R|PMS2_ENST00000469652.1_Intron|PMS2_ENST00000406569.3_Missense_Mutation_p.S36R	NM_000535.5	NP_000526	P54278	PMS2_HUMAN	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)	36					mismatch repair|reciprocal meiotic recombination|somatic hypermutation of immunoglobulin genes	MutLalpha complex	ATP binding|ATPase activity|endonuclease activity|protein binding|single base insertion or deletion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)		ACCGCAGTGCTTAGACTCAGT	0.433			"Mis, N, F"			"colorectal, endometrial, ovarian, medulloblastoma, glioma"		Direct reversal of damage;Mismatch excision repair (MMR)	Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				63	210					0	0	1	0	0	G	6045580	T	G	6045580	3	3	49	1	0	0	0	0	1	0	0	0	12191	1609	56	5	2538	5	PMS2	7	6045580	Missense_Mutation	SNP	T	TCGA-DB-A64X-01A-11D-A29Q-08		6045580	153093083	49	2094											
THSD7A	221981	broad.mit.edu	37	7	11485796	11485796	+	Missense_Mutation	SNP	T	T	C			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr7:11485796T>C	ENST00000423059.4	-	13	3207	c.2956A>G	c.(2956-2958)Aaa>Gaa	p.K986E	AC004538.3_ENST00000445839.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A		TSP type-1 10.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		CCTTGTACTTTCATTCCCAGC	0.433										HNSCC(18;0.044)			19	121					0	0	1	0	0	C	11485796	T	C	11485796	3	2	49	1	0	0	0	0	1	0	0	0	15939	1792	62	3	2077	3	THSD7A	7	11485796	Missense_Mutation	SNP	T	TCGA-DB-A64X-01A-11D-A29Q-08	5440216	11485796	147652867	50	2095											
PUS7	54517	broad.mit.edu	37	7	105098346	105098346	+	Missense_Mutation	SNP	T	T	A			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr7:105098346T>A	ENST00000356362.2	-	16	2091	c.1877A>T	c.(1876-1878)gAt>gTt	p.D626V	PUS7_ENST00000469408.1_Missense_Mutation_p.D626V	NM_019042.3	NP_061915.2	Q96PZ0	PUS7_HUMAN	pseudouridylate synthase 7 homolog (S. cerevisiae)	626					pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|pancreas(1)|skin(1)	23						TAGAGAAAAATCCATTTTCAG	0.458													43	53					0	0	1	0	0	A	105098346	T	A	105098346	3	1	49	1	0	0	0	0	1	0	0	0	12885	1435	50	4	112	4	PUS7	7	105098346	Missense_Mutation	SNP	T	TCGA-DB-A64X-01A-11D-A29Q-08	93612550	105098346	54040317	51	2096											
TRPV5	56302	broad.mit.edu	37	7	142609806	142609806	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr7:142609806G>A	ENST00000265310.1	-	13	1978	c.1630C>T	c.(1630-1632)Cct>Tct	p.P544S		NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	544					protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					TAGTTGGCAGGTGCATCAATA	0.493													54	55					0	0	1	0	0	A	142609806	G	A	142609806	3	1	49	1	0	0	0	0	1	0	0	0	16660	1261	44	2	571	2	TRPV5	7	142609806	Missense_Mutation	SNP	G	TCGA-DB-A64X-01A-11D-A29Q-08	37511460	142609806	16528857	52	2097											
TEX15	56154	broad.mit.edu	37	8	30694848	30694848	+	Silent	SNP	T	T	G			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr8:30694848T>G	ENST00000256246.2	-	3	7877	c.7803A>C	c.(7801-7803)atA>atC	p.I2601I		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	2601										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		CATTAAGGGTTATATGCCCAG	0.383													25	37					0	0	1	0	0	G	30694848	T	G	30694848	2	3	49	1	0	0	0	0	0	0	0	1	15838	1744	61	5		5	TEX15	8	30694848	Silent	SNP	T	TCGA-DB-A64X-01A-11D-A29Q-08		30694848	115669174	53	2098											
TRPA1	8989	broad.mit.edu	37	8	72967828	72967828	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr8:72967828G>A	ENST00000262209.4	-	12	1579	c.1372C>T	c.(1372-1374)Cgt>Tgt	p.R458C	RP11-383H13.1_ENST00000457356.4_3'UTR	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	458						integral to plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	GTATTGATACGCCCATAACTT	0.413													20	24					0	0	1	0	0	A	72967828	G	A	72967828	3	1	49	1	0	0	0	0	1	0	0	0	16638	1087	38	1	2051	1	TRPA1	8	72967828	Missense_Mutation	SNP	G	TCGA-DB-A64X-01A-11D-A29Q-08	42272980	72967828	73396194	54	2099											
CSMD3	114788	broad.mit.edu	37	8	113395856	113395856	+	Missense_Mutation	SNP	C	C	A			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr8:113395856C>A	ENST00000297405.5	-	37	6215	c.5971G>T	c.(5971-5973)Gat>Tat	p.D1991Y	CSMD3_ENST00000343508.3_Missense_Mutation_p.D1951Y|CSMD3_ENST00000455883.2_Missense_Mutation_p.D1887Y|CSMD3_ENST00000352409.3_Missense_Mutation_p.D1921Y	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1991	CUB 11.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TCCAGAGAATCCCAATTATGT	0.348										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			12	48					0.0167234	0.0168561	1	1	0	A	113395856	C	A	113395856	3	1	49	1	0	0	0	0	1	0	0	0	3971	855	30	5	5292	5	CSMD3	8	113395856	Missense_Mutation	SNP	C	TCGA-DB-A64X-01A-11D-A29Q-08	40428028	113395856	32968166	55	2100											
FOXH1	8928	broad.mit.edu	37	8	145701110	145701110	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr8:145701110delC	ENST00000377317.4	-	1	608	c.30delG	c.(28-30)gggfs	p.G10fs	FOXH1_ENST00000525197.1_5'UTR	NM_003923.2	NP_003914.1	O75593	FOXH1_HUMAN	forkhead box H1	10					axial mesoderm development|blood vessel development|cell migration involved in gastrulation|embryonic heart tube anterior/posterior pattern formation|floor plate formation|heart looping|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|specification of organ position|transforming growth factor beta receptor signaling pathway	activin responsive factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|R-SMAD binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5	all_cancers(97;4.61e-11)|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;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.76e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)			CCTCTGGGGGCCCCAGGCGGG	0.687													2	4	---	---	---	---						-	145701110	C	-	145701110	7	5	49	1	0	1	0	1	0	0	0	0	6042	726	26	0	1079	0	FOXH1	8	145701110	Frame_Shift_Del	DEL	C	TCGA-DB-A64X-01A-11D-A29Q-08	32305254	145701110	662912	56	2101											
TEK	7010	broad.mit.edu	37	9	27190616	27190616	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr9:27190616G>A	ENST00000380036.4	+	10	1859	c.1417G>A	c.(1417-1419)Gat>Aat	p.D473N	TEK_ENST00000406359.4_Missense_Mutation_p.D430N|TEK_ENST00000519097.1_Missense_Mutation_p.D326N	NM_000459.3	NP_000450	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial	473	Fibronectin type-III 1.				angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)		TTACTTTGGGGATGGACCAAT	0.433													5	119					0	0	1	0	0	A	27190616	G	A	27190616	3	1	49	1	0	0	0	0	1	0	0	0	15810	1174	41	2	1455	2	TEK	9	27190616	Missense_Mutation	SNP	G	TCGA-DB-A64X-01A-11D-A29Q-08		27190616	114022815	57	2102											
NFX1	4799	broad.mit.edu	37	9	33311160	33311160	+	Missense_Mutation	SNP	A	A	G			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr9:33311160A>G	ENST00000379540.3	+	6	1495	c.1433A>G	c.(1432-1434)gAa>gGa	p.E478G	NFX1_ENST00000318524.6_Missense_Mutation_p.E478G|NFX1_ENST00000379521.4_Missense_Mutation_p.E478G	NM_002504.4	NP_002495.2	Q12986	NFX1_HUMAN	nuclear transcription factor, X-box binding 1	478					inflammatory response|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|ligase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25			LUSC - Lung squamous cell carcinoma(29;0.00506)	GBM - Glioblastoma multiforme(74;0.224)		AAAACATGTGAATGTGGACGA	0.413													31	83					0	0	1	0	0	G	33311160	A	G	33311160	3	3	49	1	0	0	0	0	1	0	0	0	10434	246	9	3	1455	3	NFX1	9	33311160	Missense_Mutation	SNP	A	TCGA-DB-A64X-01A-11D-A29Q-08	6120544	33311160	107902271	58	2103											
ANK3	288	broad.mit.edu	37	10	61834572	61834572	+	Missense_Mutation	SNP	C	C	T	rs146929899	byFrequency	TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr10:61834572C>T	ENST00000280772.2	-	37	6258	c.6067G>A	c.(6067-6069)Gcc>Acc	p.A2023T	ANK3_ENST00000373827.2_Intron|ANK3_ENST00000355288.2_Intron|ANK3_ENST00000503366.1_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)						establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TTTTCGGAGGCGGCTTTTGCT	0.418													9	80					0	0	1	0	0	T	61834572	C	T	61834572	3	4	49	1	0	0	0	0	1	0	0	0	618	768	27	1	7407	1	ANK3	10	61834572	Missense_Mutation	SNP	C	TCGA-DB-A64X-01A-11D-A29Q-08		61834572	73700175	59	2104											
POLR3A	11128	broad.mit.edu	37	10	79785474	79785474	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr10:79785474delT	ENST00000372371.3	-	3	361	c.224delA	c.(223-225)aacfs	p.N75fs		NM_007055.3	NP_008986.2	O14802	RPC1_HUMAN	polymerase (RNA) III (DNA directed) polypeptide A, 155kDa	75					innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding			breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)			GTCAGCCAAGTTTTTCCCACA	0.483													25	93	---	---	---	---						-	79785474	T	-	79785474	7	5	49	1	0	1	0	1	0	0	0	0	12276	1725	60	0	4064	0	POLR3A	10	79785474	Frame_Shift_Del	DEL	T	TCGA-DB-A64X-01A-11D-A29Q-08	17950902	79785474	55749273	60	2105											
AGAP11	119385	broad.mit.edu	37	10	88769304	88769304	+	RNA	SNP	G	G	A			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr10:88769304G>A	ENST00000444431.1	+	0	3904				RP11-96C23.5_ENST00000433214.2_RNA|RP11-96C23.14_ENST00000444180.3_RNA			Q8TF27	AGA11_HUMAN	ankyrin repeat and GTPase domain Arf GTPase activating protein 11						regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding										CGGTGGATCCGTTCCAAATAT	0.582													8	162					0	0	1	0	0	A	88769304	G	A	88769304	1	1	49	0	1	0	0	0	0	0	0	0	366	1145	40	1		1	AGAP11	10	88769304	RNA	SNP	G	TCGA-DB-A64X-01A-11D-A29Q-08	8983830	88769304	46765443	61	2106											
C11orf35	256329	broad.mit.edu	37	11	557018	557018	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr11:557018C>T	ENST00000329451.3	-	8	855	c.793G>A	c.(793-795)Gtg>Atg	p.V265M		NM_173573.2	NP_775844.2	Q8IXW0	CK035_HUMAN	chromosome 11 open reading frame 35	265										NS(1)|breast(1)|central_nervous_system(1)|lung(4)|pancreas(1)	8		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;7.18e-28)|Epithelial(43;6.93e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.97e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CCCCACTCCACGGTCTTGTGA	0.672													9	4					0	0	1	0	0	T	557018	C	T	557018	3	4	49	1	0	0	0	0	1	0	0	0	1643	536	19	1	1139	1	C11orf35	11	557018	Missense_Mutation	SNP	C	TCGA-DB-A64X-01A-11D-A29Q-08		557018	134449498	62	2107											
MUC5B	727897	broad.mit.edu	37	11	1271146	1271146	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr11:1271146G>A	ENST00000447027.1	+	31	13103	c.13045G>A	c.(13045-13047)Gcc>Acc	p.A4349T	MUC5B_ENST00000529681.1_Missense_Mutation_p.A4346T			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4346	23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CACACCCGTGGCCACCATGTC	0.627													22	160					0	0	1	0	0	A	1271146	G	A	1271146	3	1	49	1	0	0	0	0	1	0	0	0	10027	1203	42	2	13167	2	MUC5B	11	1271146	Missense_Mutation	SNP	G	TCGA-DB-A64X-01A-11D-A29Q-08	714128	1271146	133735370	63	2108											
TMEM132A	54972	broad.mit.edu	37	11	60698058	60698058	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr11:60698058C>T	ENST00000005286.4	+	5	1096	c.943C>T	c.(943-945)Cgc>Tgc	p.R315C	TMEM132A_ENST00000453848.2_Missense_Mutation_p.R315C	NM_017870.3|NM_178031.2	NP_060340.2|NP_821174.1	Q24JP5	T132A_HUMAN	transmembrane protein 132A	315						endoplasmic reticulum membrane|Golgi membrane|integral to membrane				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						CAAGCTGGACCGCTTCAAGGG	0.637													78	93					0	0	1	0	0	T	60698058	C	T	60698058	3	4	49	1	0	0	0	0	1	0	0	0	16105	652	23	1	961	1	TMEM132A	11	60698058	Missense_Mutation	SNP	C	TCGA-DB-A64X-01A-11D-A29Q-08	59426912	60698058	74308458	64	2109											
SLC22A12	116085	broad.mit.edu	37	11	64360337	64360337	+	Silent	SNP	C	C	T			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr11:64360337C>T	ENST00000377574.1	+	2	1236	c.489C>T	c.(487-489)tgC>tgT	p.C163C	SLC22A12_ENST00000377572.1_Silent_p.C163C|SLC22A12_ENST00000336464.7_Silent_p.C163C|SLC22A12_ENST00000473690.1_5'UTR|SLC22A12_ENST00000377567.2_Silent_p.C163C	NM_144585.2	NP_653186.2	Q96S37	S22AC_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 12	163					cellular homeostasis|response to drug|urate metabolic process	apical plasma membrane|brush border membrane|integral to membrane	PDZ domain binding|urate transmembrane transporter activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27						CTGCTGCGTGCGGCCCTGCCT	0.627													5	100					0	0	1	0	0	T	64360337	C	T	64360337	2	4	49	1	0	0	0	0	0	0	0	1	14498	776	27	1		1	SLC22A12	11	64360337	Silent	SNP	C	TCGA-DB-A64X-01A-11D-A29Q-08	3662279	64360337	70646179	65	2110											
RELA	5970	broad.mit.edu	37	11	65429217	65429217	+	Silent	SNP	T	T	C			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr11:65429217T>C	ENST00000525693.1	-	4	338	c.276A>G	c.(274-276)ggA>ggG	p.G92G	RELA_ENST00000406246.3_Silent_p.G92G|RELA_ENST00000308639.9_Silent_p.G92G			Q04206	TF65_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog A	92	RHD.				anti-apoptosis|cellular defense response|cytokine-mediated signaling pathway|defense response to virus|inflammatory response|innate immune response|interspecies interaction between organisms|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription, DNA-dependent|nerve growth factor receptor signaling pathway|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of inflammatory response|response to interleukin-1|response to UV-B|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|transcription factor complex	activating transcription factor binding|chromatin binding|identical protein binding|NF-kappaB binding|phosphate binding|protein kinase binding|protein N-terminus binding|repressing transcription factor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(11)|ovary(1)|urinary_tract(1)	19						GGCAGTCCTTTCCTACAAGCT	0.617													14	78					0	0	1	0	0	C	65429217	T	C	65429217	2	2	49	1	0	0	0	0	0	0	0	1	13268	1770	62	3		3	RELA	11	65429217	Silent	SNP	T	TCGA-DB-A64X-01A-11D-A29Q-08	1068880	65429217	69577299	66	2111											
ALDH3B2	222	broad.mit.edu	37	11	67430801	67430801	+	Missense_Mutation	SNP	A	A	G			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr11:67430801A>G	ENST00000349015.3	-	10	1481	c.1043T>C	c.(1042-1044)cTg>cCg	p.L348P	ALDH3B2_ENST00000530069.1_Missense_Mutation_p.L348P	NM_000695.3	NP_000686	P48448	AL3B2_HUMAN	aldehyde dehydrogenase 3 family, member B2	348					alcohol metabolic process|cellular aldehyde metabolic process|lipid metabolic process		3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1)	18					NADH(DB00157)	GGGGGCGAGCAGGCAGGTGCG	0.617													26	34					0	0	1	0	0	G	67430801	A	G	67430801	3	3	49	1	0	0	0	0	1	0	0	0	497	188	7	3	118	3	ALDH3B2	11	67430801	Missense_Mutation	SNP	A	TCGA-DB-A64X-01A-11D-A29Q-08	2001584	67430801	67575715	67	2112											
SLC2A14	144195	broad.mit.edu	37	12	7982600	7982600	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr12:7982600C>T	ENST00000543909.1	-	10	1103	c.344G>A	c.(343-345)cGc>cAc	p.R115H	SLC2A14_ENST00000542505.1_Intron|SLC2A14_ENST00000539924.1_Missense_Mutation_p.R130H|SLC2A14_ENST00000542546.1_Missense_Mutation_p.R6H|SLC2A14_ENST00000431042.2_Missense_Mutation_p.R92H|SLC2A14_ENST00000535295.1_Missense_Mutation_p.R6H|SLC2A14_ENST00000396589.2_Missense_Mutation_p.R115H|SLC2A14_ENST00000340749.5_Missense_Mutation_p.R92H			Q8TDB8	GTR14_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 14	115					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane	glucose transmembrane transporter activity	p.R115H(1)		central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	38				Kidney(36;0.0883)		CATTGAATTGCGCCTGTAAGG	0.458													11	38					0	0	1	0	0	T	7982600	C	T	7982600	3	4	49	1	0	0	0	0	1	0	0	0	14598	768	27	1	1246	1	SLC2A14	12	7982600	Missense_Mutation	SNP	C	TCGA-DB-A64X-01A-11D-A29Q-08		7982600	125869295	68	2113											
GRIN2B	2904	broad.mit.edu	37	12	13764768	13764768	+	Silent	SNP	G	G	A			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr12:13764768G>A	ENST00000609686.1	-	8	1880	c.1671C>T	c.(1669-1671)gaC>gaT	p.D557D		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B						response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TCACCCATACGTCAGCGCTGA	0.448													4	128					0	0	1	0	0	A	13764768	G	A	13764768	2	1	49	1	0	0	0	0	0	0	0	1	6821	1136	40	1		1	GRIN2B	12	13764768	Silent	SNP	G	TCGA-DB-A64X-01A-11D-A29Q-08	5782168	13764768	120087127	69	2114											
DGKA	1606	broad.mit.edu	37	12	56330861	56330861	+	Missense_Mutation	SNP	A	A	G			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr12:56330861A>G	ENST00000331886.5	+	3	579	c.125A>G	c.(124-126)tAt>tGt	p.Y42C	DGKA_ENST00000551156.1_Missense_Mutation_p.Y42C|DGKA_ENST00000394147.1_Missense_Mutation_p.Y42C	NM_001345.4	NP_001336.2	P23743	DGKA_HUMAN	diacylglycerol kinase, alpha 80kDa	42					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity			breast(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(4)|pancreas(1)|skin(3)|urinary_tract(1)	25					Vitamin E(DB00163)	ATGGCTAAATATGTCCAAGGA	0.448													5	82					0	0	1	0	0	G	56330861	A	G	56330861	3	3	49	1	0	0	0	0	1	0	0	0	4493	449	16	3	131	3	DGKA	12	56330861	Missense_Mutation	SNP	A	TCGA-DB-A64X-01A-11D-A29Q-08	42566093	56330861	77521034	70	2115											
COL4A1	1282	broad.mit.edu	37	13	110804777	110804777	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr13:110804777G>A	ENST00000375820.4	-	51	4953	c.4832C>T	c.(4831-4833)gCg>gTg	p.A1611V		NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	1611	Collagen IV NC1.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			GATGAATGGCGCACTTCTAAA	0.582													8	19					0	0	1	0	0	A	110804777	G	A	110804777	3	1	49	1	0	0	0	0	1	0	0	0	3712	1087	38	1	185	1	COL4A1	13	110804777	Missense_Mutation	SNP	G	TCGA-DB-A64X-01A-11D-A29Q-08		110804777	4365101	71	2116											
LRRC16B	90668	broad.mit.edu	37	14	24531941	24531941	+	Missense_Mutation	SNP	G	G	C			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr14:24531941G>C	ENST00000342740.5	+	29	2746	c.2592G>C	c.(2590-2592)agG>agC	p.R864S	LRRC16B_ENST00000334420.7_5'UTR	NM_138360.3	NP_612369.3	Q8ND23	LR16B_HUMAN	leucine rich repeat containing 16B	864										breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	52				GBM - Glioblastoma multiforme(265;0.019)		CCCAGCTAAGGACGCTGTCAG	0.627													37	38					0	0	1	0	0	C	24531941	G	C	24531941	3	2	49	1	0	0	0	0	1	0	0	0	9017	1165	41	5	2706	5	LRRC16B	14	24531941	Missense_Mutation	SNP	G	TCGA-DB-A64X-01A-11D-A29Q-08		24531941	82817599	72	2117											
KLHL28	54813	broad.mit.edu	37	14	45403686	45403686	+	Silent	SNP	T	T	C			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr14:45403686T>C	ENST00000396128.4	-	3	1094	c.975A>G	c.(973-975)ggA>ggG	p.G325G	KLHL28_ENST00000355081.2_Silent_p.G339G	NM_017658.3	NP_060128.2	Q9NXS3	KLH28_HUMAN	kelch-like family member 28	325										breast(2)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						AAACGCATATTCCAAATTCAT	0.373													4	50					0	0	1	0	0	C	45403686	T	C	45403686	2	2	49	1	0	0	0	0	0	0	0	1	8425	1770	62	3		3	KLHL28	14	45403686	Silent	SNP	T	TCGA-DB-A64X-01A-11D-A29Q-08	20871745	45403686	61945854	73	2118											
FANCM	57697	broad.mit.edu	37	14	45645432	45645432	+	Missense_Mutation	SNP	T	T	G			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr14:45645432T>G	ENST00000267430.5	+	14	3560	c.3475T>G	c.(3475-3477)Tta>Gta	p.L1159V	FANCM_ENST00000542564.2_Missense_Mutation_p.L1133V	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	1159					DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						AAGCGAATCTTTACCTGTGTC	0.373								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				7	106					0	0	1	0	0	G	45645432	T	G	45645432	3	3	49	1	0	0	0	0	1	0	0	0	5704	1838	64	5	3529	5	FANCM	14	45645432	Missense_Mutation	SNP	T	TCGA-DB-A64X-01A-11D-A29Q-08	241746	45645432	61704108	74	2119											
HERC2	8924	broad.mit.edu	37	15	28491947	28491947	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr15:28491947G>A	ENST00000261609.7	-	22	3440	c.3332C>T	c.(3331-3333)gCt>gTt	p.A1111V		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	1111					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		GCTGGTAGAAGCAATGCTGGC	0.507													35	46					0	0	1	0	0	A	28491947	G	A	28491947	3	1	49	1	0	0	0	0	1	0	0	0	7099	971	34	2	11460	2	HERC2	15	28491947	Missense_Mutation	SNP	G	TCGA-DB-A64X-01A-11D-A29Q-08		28491947	74039445	75	2120											
MCTP2	55784	broad.mit.edu	37	15	95013576	95013576	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr15:95013576C>T	ENST00000357742.4	+	20	2375	c.2375C>T	c.(2374-2376)aCg>aTg	p.T792M	MCTP2_ENST00000451018.3_Missense_Mutation_p.T737M	NM_018349.3	NP_060819.3	Q6DN12	MCTP2_HUMAN	multiple C2 domains, transmembrane 2	792					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			TTTAACTGGACGGTCCCCTTC	0.403													41	45					0	0	1	0	0	T	95013576	C	T	95013576	3	4	49	1	0	0	0	0	1	0	0	0	9451	536	19	1	2529	1	MCTP2	15	95013576	Missense_Mutation	SNP	C	TCGA-DB-A64X-01A-11D-A29Q-08	66521629	95013576	7517816	76	2121											
PCSK6	5046	broad.mit.edu	37	15	101971660	101971660	+	Silent	SNP	G	G	A			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr15:101971660G>A	ENST00000348070.1	-	5	518	c.519C>T	c.(517-519)ggC>ggT	p.G173G	PCSK6_ENST00000358417.3_Silent_p.G173G|PCSK6_ENST00000331826.7_Silent_p.G8G|PCSK6_ENST00000398181.2_Silent_p.G173G|PCSK6_ENST00000344273.2_Silent_p.G173G|PCSK6_ENST00000561177.1_5'UTR	NM_002570.3|NM_138320.1	NP_002561.1|NP_612193.1	P29122	PCSK6_HUMAN	proprotein convertase subtilisin/kexin type 6	174	Catalytic.				glycoprotein metabolic process|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|regulation of BMP signaling pathway|secretion by cell	cell surface|endomembrane system|endoplasmic reticulum|extracellular matrix|extracellular space|Golgi lumen|membrane|soluble fraction	eukaryotic cell surface binding|heparin binding|nerve growth factor binding|serine-type endopeptidase activity			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			TGTTCTTGTCGCCACAATGCT	0.552													6	27					0	0	1	0	0	A	101971660	G	A	101971660	2	1	49	1	0	0	0	0	0	0	0	1	11651	1074	38	1		1	PCSK6	15	101971660	Silent	SNP	G	TCGA-DB-A64X-01A-11D-A29Q-08	6958084	101971660	559732	77	2122											
IL4R	3566	broad.mit.edu	37	16	27372137	27372137	+	Splice_Site	SNP	G	G	A			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr16:27372137G>A	ENST00000395762.2	+	10	1158		c.e10+1		IL4R_ENST00000543915.2_Splice_Site|IL4R_ENST00000170630.2_Splice_Site|IL4R_ENST00000380922.3_Splice_Site|IL4R_ENST00000565915.1_Splice_Site	NM_000418.3	NP_000409.1	P24394	IL4RA_HUMAN	interleukin 4 receptor						immune response|production of molecular mediator involved in inflammatory response	integral to plasma membrane	identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						CCAAGTGCCCGTATGTATCTG	0.547													5	148					0	0	1	0	0	A	27372137	G	A	27372137	5	1	49	1	0	0	0	0	0	0	1	0	7742	1159	40	1	948	1	IL4R	16	27372137	Splice_Site	SNP	G	TCGA-DB-A64X-01A-11D-A29Q-08		27372137	62982616	78	2123											
RSPRY1	89970	broad.mit.edu	37	16	57238805	57238805	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr16:57238805G>A	ENST00000537866.1	+	2	1108	c.235G>A	c.(235-237)Gac>Aac	p.D79N	RSPRY1_ENST00000394420.4_Missense_Mutation_p.D79N			Q96DX4	RSPRY_HUMAN	ring finger and SPRY domain containing 1	79						extracellular region	zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|urinary_tract(3)	27						CCAACCACGGGACCCTGTTCG	0.552													5	99					0	0	1	0	0	A	57238805	G	A	57238805	3	1	49	1	0	0	0	0	1	0	0	0	13765	1174	41	2	237	2	RSPRY1	16	57238805	Missense_Mutation	SNP	G	TCGA-DB-A64X-01A-11D-A29Q-08	29866668	57238805	33115948	79	2124											
YWHAE	7531	broad.mit.edu	37	17	1268267	1268267	+	Missense_Mutation	SNP	C	C	G			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr17:1268267C>G	ENST00000264335.8	-	2	417	c.150G>C	c.(148-150)aaG>aaC	p.K50N	YWHAE_ENST00000573026.1_Intron|YWHAE_ENST00000575977.1_Missense_Mutation_p.K50N|YWHAE_ENST00000571732.1_Missense_Mutation_p.K28N	NM_006761.4	NP_006752.1	P62258	1433E_HUMAN	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide	50					apoptosis|G2/M transition of mitotic cell cycle|induction of apoptosis by extracellular signals|interspecies interaction between organisms|intracellular signal transduction|nerve growth factor receptor signaling pathway	cytosol|melanosome	histone deacetylase binding|phosphoserine binding			kidney(2)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)	14			OV - Ovarian serous cystadenocarcinoma(18;0.203)	UCEC - Uterine corpus endometrioid carcinoma (25;0.0887)		CAATCACATTCTTATATGCAA	0.423			T	"FAM22a, FAM22B"	edometrial stromal sarcoma		Miller-Dieker lissencephaly syndrome						4	84					0	0	1	0	0	G	1268267	C	G	1268267	3	3	49	1	0	0	0	0	1	0	0	0	17562	912	32	4	637	4	YWHAE	17	1268267	Missense_Mutation	SNP	C	TCGA-DB-A64X-01A-11D-A29Q-08		1268267	79926943	80	2125											
TP53	7157	broad.mit.edu	37	17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	rs121913343		TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr17:7577121G>A	ENST00000420246.2	-	8	949	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000269305.4_Missense_Mutation_p.R273C|TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.R273C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	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).		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.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			12	18					0	0	1	0	0	A	7577121	G	A	7577121	3	1	49	1	0	0	0	0	1	0	0	0	16442	1087	38	1	469	1	TP53	17	7577121	Missense_Mutation	SNP	G	TCGA-DB-A64X-01A-11D-A29Q-08	6308854	7577121	73618089	81	2126											
TP53	7157	broad.mit.edu	37	17	7578191	7578191	+	Missense_Mutation	SNP	A	A	G			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr17:7578191A>G	ENST00000420246.2	-	6	790	c.658T>C	c.(658-660)Tat>Cat	p.Y220H	TP53_ENST00000574684.1_Intron|TP53_ENST00000269305.4_Missense_Mutation_p.Y220H|TP53_ENST00000445888.2_Missense_Mutation_p.Y220H|TP53_ENST00000359597.4_Missense_Mutation_p.Y220H|TP53_ENST00000413465.2_Missense_Mutation_p.Y220H|TP53_ENST00000455263.2_Missense_Mutation_p.Y220H	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	220	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 a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.Y220N(12)|p.?(11)|p.Y220H(8)|p.0?(8)|p.Y220D(2)|p.D208fs*1(1)|p.Y220_P223delYEPP(1)|p.V218_E224delVPYEPPE(1)|p.V218_E221delVPYE(1)|p.S215fs*27(1)|p.V218_Y220delVPY(1)|p.Y220fs*25(1)|p.V216_Y220delVVVPY(1)|p.Y220fs*2(1)|p.V218fs*26(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)		GGCGGCTCATAGGGCACCACC	0.552		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)			16	27					0	0	1	0	0	G	7578191	A	G	7578191	3	3	49	1	0	0	0	0	1	0	0	0	16442	420	15	3	636	3	TP53	17	7578191	Missense_Mutation	SNP	A	TCGA-DB-A64X-01A-11D-A29Q-08	1070	7578191	73617019	82	2127											
TAOK1	57551	broad.mit.edu	37	17	27778575	27778578	+	Frame_Shift_Del	DEL	AACT	AACT	-			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr17:27778575_27778578delAACT	ENST00000261716.3	+	2	528_531	c.9_12delAACT	c.(7-12)tcaactfs	p.ST3fs	TAOK1_ENST00000536202.1_Frame_Shift_Del_p.ST3fs	NM_020791.2	NP_065842.1	Q7L7X3	TAOK1_HUMAN	TAO kinase 1	3					mitotic prometaphase	cytosol|intracellular membrane-bounded organelle	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28			Colorectal(6;0.198)			GGATGCCATCAACTAACAGAGCAG	0.446													16	28	---	---	---	---						-	27778578	AACT	-	27778575	7	5	49	1	0	1	0	1	0	0	0	0	15604	117	5	0	11	0	TAOK1	17	27778575	Frame_Shift_Del	DEL	AACT	TCGA-DB-A64X-01A-11D-A29Q-08	20200384	27778575	53416635	83	2128											
KRT28	162605	broad.mit.edu	37	17	38954585	38954585	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr17:38954585G>A	ENST00000306658.7	-	3	657	c.592C>T	c.(592-594)Cga>Tga	p.R198*		NM_181535.3	NP_853513.2	Q7Z3Y7	K1C28_HUMAN	keratin 28	198	Coil 1B.|Rod.					cytoplasm|intermediate filament	structural molecule activity			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30		Breast(137;0.000301)				TCCAGGACTCGCCGTAATCCG	0.498													9	70					0	0	1	0	0	A	38954585	G	A	38954585	4	1	49	1	0	0	0	0	0	1	0	0	8508	1095	38	1	826	1	KRT28	17	38954585	Nonsense_Mutation	SNP	G	TCGA-DB-A64X-01A-11D-A29Q-08	11176010	38954585	42240625	84	2129											
KRT31	3881	broad.mit.edu	37	17	39553720	39553720	+	Silent	SNP	G	G	C			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr17:39553720G>C	ENST00000251645.2	-	1	124	c.72C>G	c.(70-72)ccC>ccG	p.P24P		NM_002277.2	NP_002268.2	Q15323	K1H1_HUMAN	keratin 31	24	Head.				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	31		Breast(137;0.000496)				TGTGGCAGCTGGGGGGCACGC	0.662													32	47					0	0	1	0	0	C	39553720	G	C	39553720	2	2	49	1	0	0	0	0	0	0	0	1	8510	1335	47	5		5	KRT31	17	39553720	Silent	SNP	G	TCGA-DB-A64X-01A-11D-A29Q-08	599135	39553720	41641490	85	2130											
MUC16	94025	broad.mit.edu	37	19	9089904	9089904	+	Silent	SNP	G	G	A			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr19:9089904G>A	ENST00000397910.4	-	1	2114	c.1911C>T	c.(1909-1911)tcC>tcT	p.S637S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	637	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.S637S(2)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TCAAATCTGCGGATGTCTCAG	0.582													5	120					0	0	1	0	0	A	9089904	G	A	9089904	2	1	49	1	0	0	0	0	0	0	0	1	10021	1103	39	1		1	MUC16	19	9089904	Silent	SNP	G	TCGA-DB-A64X-01A-11D-A29Q-08		9089904	50039079	86	2131											
NANOS3	342977	broad.mit.edu	37	19	13988120	13988120	+	Missense_Mutation	SNP	C	C	G			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr19:13988120C>G	ENST00000397555.2	+	1	58	c.58C>G	c.(58-60)Ctg>Gtg	p.L20V	NANOS3_ENST00000339133.5_Missense_Mutation_p.L20V|NANOS3_ENST00000591727.1_Intron	NM_001098622.2	NP_001092092.1	P60323	NANO3_HUMAN	nanos homolog 3 (Drosophila)	20					anti-apoptosis|germ cell development|multicellular organismal development|oogenesis|regulation of cell cycle|regulation of translation|spermatogenesis	cytoplasmic mRNA processing body|nucleus|stress granule	RNA binding|zinc ion binding			breast(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	7			OV - Ovarian serous cystadenocarcinoma(19;2e-21)			GGTTAGGGCTCTGAGTGGGAA	0.617													4	267					0	0	1	0	0	G	13988120	C	G	13988120	3	3	49	1	0	0	0	0	1	0	0	0	10201	912	32	4	60	4	NANOS3	19	13988120	Missense_Mutation	SNP	C	TCGA-DB-A64X-01A-11D-A29Q-08	4898216	13988120	45140863	87	2132											
MED26	9441	broad.mit.edu	37	19	16689204	16689204	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr19:16689204G>A	ENST00000263390.3	-	2	351	c.89C>T	c.(88-90)gCg>gTg	p.A30V	CTC-429P9.4_ENST00000593962.1_5'UTR|CTC-429P9.4_ENST00000600705.1_3'UTR|CTD-3222D19.2_ENST00000409035.1_Missense_Mutation_p.A38V	NM_004831.3	NP_004822.2	O95402	MED26_HUMAN	mediator complex subunit 26	30	TFIIS N-terminal.				regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|RNA polymerase II transcription cofactor activity|transcription coactivator activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|skin(1)	8						TTCCAGCACCGCCACCATGTT	0.557													30	42					0	0	1	0	0	A	16689204	G	A	16689204	3	1	49	1	0	0	0	0	1	0	0	0	9494	1087	38	1	1721	1	MED26	19	16689204	Missense_Mutation	SNP	G	TCGA-DB-A64X-01A-11D-A29Q-08	2701084	16689204	42439779	88	2133											
GMIP	51291	broad.mit.edu	37	19	19745858	19745858	+	Silent	SNP	T	T	G			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr19:19745858T>G	ENST00000203556.4	-	16	1862	c.1725A>C	c.(1723-1725)atA>atC	p.I575I	GMIP_ENST00000586269.1_5'UTR|GMIP_ENST00000587238.1_Silent_p.I549I|GMIP_ENST00000445806.2_Silent_p.I546I	NM_016573.2	NP_057657.2	Q9P107	GMIP_HUMAN	GEM interacting protein	575	Rho-GAP.				negative regulation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	metal ion binding|protein binding|Rho GTPase activator activity			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						CACGGTGTTCTATCTCAGCCG	0.582													58	76					0	0	1	0	0	G	19745858	T	G	19745858	2	3	49	1	0	0	0	0	0	0	0	1	6533	1512	53	5		5	GMIP	19	19745858	Silent	SNP	T	TCGA-DB-A64X-01A-11D-A29Q-08	3056654	19745858	39383125	89	2134											
EML2	24139	broad.mit.edu	37	19	46124545	46124545	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr19:46124545C>T	ENST00000536630.1	-	14	1621	c.1483G>A	c.(1483-1485)Gga>Aga	p.G495R	EML2_ENST00000587152.1_Missense_Mutation_p.G549R|EML2_ENST00000245925.3_Missense_Mutation_p.G348R|EML2_ENST00000589876.1_Missense_Mutation_p.G348R	NM_001193269.1	NP_001180198.1	O95834	EMAL2_HUMAN	echinoderm microtubule associated protein like 2	348					sensory perception of sound|visual perception	cytoplasm|intracellular membrane-bounded organelle|microtubule|microtubule associated complex	catalytic activity|protein binding			NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|urinary_tract(1)	31		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00553)|GBM - Glioblastoma multiforme(486;0.131)|Epithelial(262;0.197)		AGTGTGTCTCCGTGGCCCTCT	0.627													35	63					0	0	1	0	0	T	46124545	C	T	46124545	3	4	49	1	0	0	0	0	1	0	0	0	5125	661	23	1	943	1	EML2	19	46124545	Missense_Mutation	SNP	C	TCGA-DB-A64X-01A-11D-A29Q-08	26378687	46124545	13004438	90	2135											
HRC	3270	broad.mit.edu	37	19	49656971	49656971	+	Silent	SNP	G	G	A			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr19:49656971G>A	ENST00000252825.4	-	1	1710	c.1524C>T	c.(1522-1524)ggC>ggT	p.G508G	HRC_ENST00000595625.1_Silent_p.G508G	NM_002152.2	NP_002143.1	P23327	SRCH_HUMAN	histidine rich calcium binding protein	508					muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2)	34		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)		CATGATGGGTGCCTTTCTCTC	0.552													12	36					0	0	1	0	0	A	49656971	G	A	49656971	2	1	49	1	0	0	0	0	0	0	0	1	7393	1306	46	2		2	HRC	19	49656971	Silent	SNP	G	TCGA-DB-A64X-01A-11D-A29Q-08	3532426	49656971	9472012	91	2136											
SIGLEC1	6614	broad.mit.edu	37	20	3670829	3670829	+	Silent	SNP	G	G	A			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr20:3670829G>A	ENST00000344754.4	-	18	4673	c.4674C>T	c.(4672-4674)agC>agT	p.S1558S	SIGLEC1_ENST00000202578.4_Silent_p.S1558S	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	1558	Ig-like C2-type 16.				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						CGAGCGGCTCGCTGTCCACTC	0.652													4	6					0	0	1	0	0	A	3670829	G	A	3670829	2	1	49	1	0	0	0	0	0	0	0	1	14360	1078	38	1		1	SIGLEC1	20	3670829	Silent	SNP	G	TCGA-DB-A64X-01A-11D-A29Q-08		3670829	59354691	92	2137											
LIPI	149998	broad.mit.edu	37	21	15554174	15554174	+	Missense_Mutation	SNP	T	T	C			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr21:15554174T>C	ENST00000344577.2	-	4	636	c.611A>G	c.(610-612)gAc>gGc	p.D204G	LIPI_ENST00000536861.1_Missense_Mutation_p.D183G	NM_198996.2	NP_945347.1	Q6XZB0	LIPI_HUMAN	lipase, member I	183					lipid catabolic process	extracellular region|extracellular space|membrane|plasma membrane	heparin binding|phospholipase activity			endometrium(1)|kidney(13)|large_intestine(9)|liver(3)|lung(24)|ovary(3)|urinary_tract(1)	54				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166)		CCCAGCAGGGTCAAGACCTGG	0.403													3	20					0	0	1	0	0	C	15554174	T	C	15554174	3	2	49	1	0	0	0	0	1	0	0	0	8866	1667	58	3	862	3	LIPI	21	15554174	Missense_Mutation	SNP	T	TCGA-DB-A64X-01A-11D-A29Q-08		15554174	32575721	93	2138											
KRTAP13-1	140258	broad.mit.edu	37	21	31768649	31768649	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr21:31768649G>A	ENST00000355459.2	+	1	258	c.245G>A	c.(244-246)cGt>cAt	p.R82H		NM_181599.2	NP_853630.2	Q8IUC0	KR131_HUMAN	keratin associated protein 13-1	82	5 X 10 AA approximate repeats.					intermediate filament				endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TCCTGCTACCGTCCCAGAACC	0.607													13	114					0	0	1	0	0	A	31768649	G	A	31768649	3	1	49	1	0	0	0	0	1	0	0	0	8565	1145	40	1	247	1	KRTAP13-1	21	31768649	Missense_Mutation	SNP	G	TCGA-DB-A64X-01A-11D-A29Q-08	16214475	31768649	16361246	94	2139											
KRTAP10-3	386682	broad.mit.edu	37	21	45978112	45978112	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr21:45978112G>A	ENST00000391620.1	-	1	531	c.487C>T	c.(487-489)Cgc>Tgc	p.R163C	TSPEAR_ENST00000323084.4_Intron|TSPEAR_ENST00000397916.1_Intron	NM_198696.2	NP_941969.2	P60369	KR103_HUMAN	keratin associated protein 10-3	163	18 X 5 AA repeats of C-C-X(3).					keratin filament				kidney(1)|lung(4)|prostate(1)|skin(1)	7						CACACGGGGCGGCAGAGGAGG	0.697													22	193					0	0	1	0	0	A	45978112	G	A	45978112	3	1	49	1	0	0	0	0	1	0	0	0	8553	1116	39	1	182	1	KRTAP10-3	21	45978112	Missense_Mutation	SNP	G	TCGA-DB-A64X-01A-11D-A29Q-08	14209463	45978112	2151783	95	2140											
KRTAP10-12	386685	broad.mit.edu	37	21	46117612	46117612	+	Missense_Mutation	SNP	T	T	C			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr21:46117612T>C	ENST00000400365.3	+	1	526	c.496T>C	c.(496-498)Tgc>Cgc	p.C166R	TSPEAR_ENST00000323084.4_Intron	NM_198699.1	NP_941972.1	P60413	KR10C_HUMAN	keratin associated protein 10-12	166	19 X 5 AA repeats of C-C-X(3).					keratin filament				large_intestine(1)|lung(8)	9						TGTGCCTGTCTGCTCTGGGGC	0.637													156	220					0	0	1	0	0	C	46117612	T	C	46117612	3	2	49	1	0	0	0	0	1	0	0	0	8551	1580	55	3	498	3	KRTAP10-12	21	46117612	Missense_Mutation	SNP	T	TCGA-DB-A64X-01A-11D-A29Q-08	139500	46117612	2012283	96	2141											
CCDC116	164592	broad.mit.edu	37	22	21988388	21988388	+	Silent	SNP	C	C	T			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr22:21988388C>T	ENST00000292779.3	+	3	311	c.150C>T	c.(148-150)tcC>tcT	p.S50S	CCDC116_ENST00000607942.1_Silent_p.S50S	NM_152612.2	NP_689825.2	Q8IYX3	CC116_HUMAN	coiled-coil domain containing 116	50										endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(5)	22	Colorectal(54;0.105)					ACCCACCATCCACATGTGGCA	0.607													11	150					0	0	1	0	0	T	21988388	C	T	21988388	2	4	49	1	0	0	0	0	0	0	0	1	2771	581	21	2		2	CCDC116	22	21988388	Silent	SNP	C	TCGA-DB-A64X-01A-11D-A29Q-08		21988388	29316178	97	2142											
MAPK1	5594	broad.mit.edu	37	22	22142614	22142614	+	Missense_Mutation	SNP	T	T	C			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr22:22142614T>C	ENST00000215832.6	-	6	976	c.788A>G	c.(787-789)tAt>tGt	p.Y263C	MAPK1_ENST00000544786.1_Intron|MAPK1_ENST00000398822.3_Missense_Mutation_p.Y263C	NM_002745.4	NP_002736.3	P28482	MK01_HUMAN	mitogen-activated protein kinase 1	263	Protein kinase.				activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle|epidermal growth factor receptor signaling pathway|ERK1 and ERK2 cascade|induction of apoptosis|innate immune response|insulin receptor signaling pathway|interspecies interaction between organisms|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|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, DNA-dependent	cytosol|nucleoplasm	ATP binding|DNA binding|MAP kinase activity|phosphatase binding|RNA polymerase II carboxy-terminal domain kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Colorectal(54;0.105)	all_lung(157;3.89e-05)		READ - Rectum adenocarcinoma(21;0.0689)	Arsenic trioxide(DB01169)	AGAAAGCAAATAGTTCCTAGC	0.338													30	37					0	0	1	0	0	C	22142614	T	C	22142614	3	2	49	1	0	0	0	0	1	0	0	0	9321	1406	49	3	306	3	MAPK1	22	22142614	Missense_Mutation	SNP	T	TCGA-DB-A64X-01A-11D-A29Q-08	154226	22142614	29161952	98	2143											
MCM5	4174	broad.mit.edu	37	22	35811941	35811941	+	Silent	SNP	C	C	T	rs143122195		TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr22:35811941C>T	ENST00000216122.4	+	10	1477	c.1323C>T	c.(1321-1323)gtC>gtT	p.V441V	MCM5_ENST00000465557.1_3'UTR|MCM5_ENST00000382011.5_Silent_p.V398V	NM_006739.3	NP_006730.2	P33992	MCM5_HUMAN	minichromosome maintenance complex component 5	441	MCM.				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|DNA binding|helicase activity|protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29						ATGGTGGGGTCGTCTGTATTG	0.587													7	349					0	0	1	0	0	T	35811941	C	T	35811941	2	4	49	1	0	0	0	0	0	0	0	1	9440	871	31	1		1	MCM5	22	35811941	Silent	SNP	C	TCGA-DB-A64X-01A-11D-A29Q-08	13669327	35811941	15492625	99	2144											
FAM47C	442444	broad.mit.edu	37	X	37027824	37027824	+	Silent	SNP	G	G	T			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chrX:37027824G>T	ENST00000358047.3	+	1	1393	c.1341G>T	c.(1339-1341)gtG>gtT	p.V447V		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	447										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						AGACTGGAGTGTCCCATCTCC	0.632													55	74					5.57489e-27	5.85133e-27	1	1	0	T	37027824	G	T	37027824	2	4	49	1	0	0	0	0	0	0	0	1	5607	1364	48	5		5	FAM47C	23	37027824	Silent	SNP	G	TCGA-DB-A64X-01A-11D-A29Q-08		37027824	118242736	100	2145											
BCOR	54880	broad.mit.edu	37	X	39922291	39922291	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chrX:39922291delT	ENST00000342274.4	-	9	4141	c.3779delA	c.(3778-3780)aagfs	p.K1260fs	BCOR_ENST00000397354.3_Frame_Shift_Del_p.K1260fs|BCOR_ENST00000378463.1_Frame_Shift_Del_p.K137fs|BCOR_ENST00000378455.4_Frame_Shift_Del_p.K1242fs|BCOR_ENST00000378444.4_Frame_Shift_Del_p.K1294fs	NM_001123383.1	NP_001116855.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	1294					heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						TGAAAGACTCTTCATGGGCGG	0.592			"F, N, S, T"	RARA	"retinoblastoma, AML, APL(translocation)"		oculo-facio-cardio-dental genetic						4	5	---	---	---	---						-	39922291	T	-	39922291	7	5	49	1	0	1	0	1	0	0	0	0	1384	1609	56	0	1414	0	BCOR	23	39922291	Frame_Shift_Del	DEL	T	TCGA-DB-A64X-01A-11D-A29Q-08	2894467	39922291	115348269	101	2146											
TBC1D25	4943	broad.mit.edu	37	X	48418191	48418191	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chrX:48418191C>T	ENST00000376771.4	+	6	1236	c.895C>T	c.(895-897)Cac>Tac	p.H299Y	TBC1D25_ENST00000537536.1_Missense_Mutation_p.H45Y	NM_002536.2	NP_002527.1	Q3MII6	TBC25_HUMAN	TBC1 domain family, member 25	299	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4						TGACCGGGCCCACCCCTACTA	0.632													11	47					0	0	1	0	0	T	48418191	C	T	48418191	3	4	49	1	0	0	0	0	1	0	0	0	15672	594	21	2	917	2	TBC1D25	23	48418191	Missense_Mutation	SNP	C	TCGA-DB-A64X-01A-11D-A29Q-08	8495900	48418191	106852369	102	2147											
RLIM	51132	broad.mit.edu	37	X	73812349	73812349	+	Silent	SNP	G	G	A			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chrX:73812349G>A	ENST00000332687.6	-	4	1019	c.801C>T	c.(799-801)caC>caT	p.H267H	RLIM_ENST00000349225.2_Silent_p.H267H	NM_016120.3	NP_057204.2	Q9NVW2	RNF12_HUMAN	ring finger protein, LIM domain interacting	267					random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|transcriptional repressor complex	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						ATGTCACATGGTGCCGGGTTC	0.438													7	106					0	0	1	0	0	A	73812349	G	A	73812349	2	1	49	1	0	0	0	0	0	0	0	1	13442	1252	44	2		2	RLIM	23	73812349	Silent	SNP	G	TCGA-DB-A64X-01A-11D-A29Q-08	25394158	73812349	81458211	103	2148											
ARMCX2	9823	broad.mit.edu	37	X	100910839	100910839	+	Missense_Mutation	SNP	T	T	A			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chrX:100910839T>A	ENST00000328766.5	-	5	2189	c.1736A>T	c.(1735-1737)gAc>gTc	p.D579V	ARMCX2_ENST00000356824.4_Missense_Mutation_p.D579V|ARMCX2_ENST00000330154.2_Missense_Mutation_p.D579V	NM_014782.5	NP_055597.1	Q7L311	ARMX2_HUMAN	armadillo repeat containing, X-linked 2	579						integral to membrane	binding			NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(6)|prostate(1)|skin(1)	29						TCTGAGATTGTCATAGATAAT	0.358													26	44					0	0	1	0	0	A	100910839	T	A	100910839	3	1	49	1	0	0	0	0	1	0	0	0	959	1667	58	5	166	5	ARMCX2	23	100910839	Missense_Mutation	SNP	T	TCGA-DB-A64X-01A-11D-A29Q-08	27098490	100910839	54359721	104	2149											
ARMCX5	64860	broad.mit.edu	37	X	101857471	101857471	+	Silent	SNP	T	T	A			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chrX:101857471T>A	ENST00000604957.1	+	1	3024	c.402T>A	c.(400-402)atT>atA	p.I134I	RP4-769N13.6_ENST00000476910.2_RNA|RP4-769N13.7_ENST00000602441.1_RNA|ARMCX5_ENST00000537008.1_Silent_p.I134I|ARMCX5_ENST00000536530.1_Silent_p.I134I|ARMCX5_ENST00000372742.1_Silent_p.I134I|ARMCX5_ENST00000541409.1_Silent_p.I134I|ARMCX5_ENST00000246174.2_Silent_p.I134I	NM_001168478.1	NP_001161950.1	Q6P1M9	ARMX5_HUMAN	armadillo repeat containing, X-linked 5	134							binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	22						AGGCAAATATTAGGTCCTATG	0.463													19	236					0	0	1	0	0	A	101857471	T	A	101857471	2	1	49	1	0	0	0	0	0	0	0	1	961	1742	61	5		5	ARMCX5	23	101857471	Silent	SNP	T	TCGA-DB-A64X-01A-11D-A29Q-08	946632	101857471	53413089	105	2150											
TBC1D8B	54885	broad.mit.edu	37	X	106109197	106109197	+	Missense_Mutation	SNP	A	A	G			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chrX:106109197A>G	ENST00000357242.5	+	16	2770	c.2596A>G	c.(2596-2598)Aca>Gca	p.T866A	TBC1D8B_ENST00000276175.3_Missense_Mutation_p.T860A	NM_017752.2	NP_060222.2	Q0IIM8	TBC8B_HUMAN	TBC1 domain family, member 8B (with GRAM domain)	866	EF-hand.					intracellular	calcium ion binding|Rab GTPase activator activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						AGCTTTATGGACATTCAGATT	0.368													4	87					0	0	1	0	0	G	106109197	A	G	106109197	3	3	49	1	0	0	0	0	1	0	0	0	15686	275	10	3	2724	3	TBC1D8B	23	106109197	Missense_Mutation	SNP	A	TCGA-DB-A64X-01A-11D-A29Q-08	4251726	106109197	49161363	106	2151											
NKAP	79576	broad.mit.edu	37	X	119077534	119077534	+	Missense_Mutation	SNP	C	C	A			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chrX:119077534C>A	ENST00000371410.3	-	1	201	c.35G>T	c.(34-36)aGg>aTg	p.R12M		NM_024528.3	NP_078804.2	Q8N5F7	NKAP_HUMAN	NFKB activating protein	12	Ser-rich.				negative regulation of transcription, DNA-dependent|Notch signaling pathway|positive regulation of alpha-beta T cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	chromatin binding|protein binding			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)	20						CGAGGCCTCCCTATCCGGGCT	0.706													3	45					0.115264	0.115264	1	1	0	A	119077534	C	A	119077534	3	1	49	1	0	0	0	0	1	0	0	0	10486	681	24	4	1248	4	NKAP	23	119077534	Missense_Mutation	SNP	C	TCGA-DB-A64X-01A-11D-A29Q-08	12968337	119077534	36193026	107	2152											
L1CAM	3897	broad.mit.edu	37	X	153130307	153130307	+	Silent	SNP	G	G	T			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chrX:153130307G>T	ENST00000370060.1	-	23	3204	c.3015C>A	c.(3013-3015)atC>atA	p.I1005I	L1CAM_ENST00000543994.1_Silent_p.I1007I|L1CAM_ENST00000370057.3_Silent_p.I1005I|L1CAM_ENST00000361699.4_Silent_p.I1005I|L1CAM_ENST00000538883.1_Silent_p.I1007I|L1CAM_ENST00000370055.1_Silent_p.I1000I|L1CAM_ENST00000361981.3_Silent_p.I1000I	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	1005	Fibronectin type-III 4.				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane				NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CTTCCCGTACGATGGCTTCAC	0.632													59	165					1.45723e-30	1.54223e-30	1	1	0	T	153130307	G	T	153130307	2	4	49	1	0	0	0	0	0	0	0	1	8627	1048	37	5		5	L1CAM	23	153130307	Silent	SNP	G	TCGA-DB-A64X-01A-11D-A29Q-08	34052773	153130307	2140253	108	2153											
FUBP1	8880	broad.mit.edu	37	1	78429794	78429795	+	Frame_Shift_Ins	INS	-	-	TCGG			TCGA-DB-A75K-01A-11D-A32B-08	TCGA-DB-A75K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3788075-215e-4535-b4bd-cc40fdaf52aa	fed87034-a0a0-4c98-a951-f1a46983aba5	g.chr1:78429794_78429795insTCGG	ENST00000370767.1	-	12	1080_1081	c.993_994insCCGA	c.(991-996)cgatgtfs	p.C332fs	FUBP1_ENST00000370768.2_Frame_Shift_Ins_p.C332fs|FUBP1_ENST00000436586.2_Frame_Shift_Ins_p.C353fs			Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1	332	KH 3.				transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						GCATGTTGACATCGGTCTGGAG	0.322			"F, N"		oligodendroglioma								92	73	---	---	---	---						TCGG	78429795	-	TCGG	78429794	7	5	50	1	0	1	1	0	0	0	0	0	6127	217	8	0	976	0	FUBP1	1	78429794	Frame_Shift_Ins	INS	-	TCGA-DB-A75K-01A-11D-A32B-08		78429794	170820827	1	2154											
RBM15	64783	broad.mit.edu	37	1	110884424	110884424	+	Missense_Mutation	SNP	T	T	G			TCGA-DB-A75K-01A-11D-A32B-08	TCGA-DB-A75K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3788075-215e-4535-b4bd-cc40fdaf52aa	fed87034-a0a0-4c98-a951-f1a46983aba5	g.chr1:110884424T>G	ENST00000369784.3	+	1	3297	c.2397T>G	c.(2395-2397)ttT>ttG	p.F799L	RBM15_ENST00000487146.2_Missense_Mutation_p.F799L|RBM15_ENST00000602849.1_Missense_Mutation_p.F799L	NM_022768.4	NP_073605.4	Q96T37	RBM15_HUMAN	RNA binding motif protein 15	799	SPOC.				interspecies interaction between organisms	nucleus	nucleotide binding|protein binding|RNA binding			ovary(3)	3		all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634)		BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135)		ACAGCAACTTTCCTTCCAACA	0.547			T	MKL1	acute megakaryocytic leukemia								4	42					0	0	1	0	0	G	110884424	T	G	110884424	3	3	50	1	0	0	0	0	1	0	0	0	13168	1780	62	5	2399	5	RBM15	1	110884424	Missense_Mutation	SNP	T	TCGA-DB-A75K-01A-11D-A32B-08	32454630	110884424	138366197	2	2155											
BCL9	607	broad.mit.edu	37	1	147092733	147092733	+	Silent	SNP	A	A	G			TCGA-DB-A75K-01A-11D-A32B-08	TCGA-DB-A75K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3788075-215e-4535-b4bd-cc40fdaf52aa	fed87034-a0a0-4c98-a951-f1a46983aba5	g.chr1:147092733A>G	ENST00000234739.3	+	8	3512	c.2772A>G	c.(2770-2772)ccA>ccG	p.P924P		NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	924	Pro-rich.				Wnt receptor signaling pathway	nucleus	protein binding			breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					TCAAGTCTCCATCACTTCCTG	0.592			T	"IGH@, IGL@"	B-ALL								30	66					0	0	1	0	0	G	147092733	A	G	147092733	2	3	50	1	0	0	0	0	0	0	0	1	1379	204	8	3		3	BCL9	1	147092733	Silent	SNP	A	TCGA-DB-A75K-01A-11D-A32B-08	36208309	147092733	102157888	3	2156											
CDC73	79577	broad.mit.edu	37	1	193111044	193111044	+	Missense_Mutation	SNP	A	A	G			TCGA-DB-A75K-01A-11D-A32B-08	TCGA-DB-A75K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3788075-215e-4535-b4bd-cc40fdaf52aa	fed87034-a0a0-4c98-a951-f1a46983aba5	g.chr1:193111044A>G	ENST00000367435.3	+	7	761	c.577A>G	c.(577-579)Aaa>Gaa	p.K193E		NM_024529.4	NP_078805.3	Q6P1J9	CDC73_HUMAN	cell division cycle 73	193					cell cycle|histone H2B ubiquitination|histone monoubiquitination|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(14)|ovary(1)|pancreas(1)|parathyroid(51)|skin(1)|upper_aerodigestive_tract(1)	87						TATGGCTAAGAAAAGATCTAC	0.373													26	21					0	0	1	0	0	G	193111044	A	G	193111044	3	3	50	1	0	0	0	0	1	0	0	0	3107	247	9	3	603	3	CDC73	1	193111044	Missense_Mutation	SNP	A	TCGA-DB-A75K-01A-11D-A32B-08	46018311	193111044	56139577	4	2157											
VSNL1	7447	broad.mit.edu	37	2	17836522	17836522	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A75K-01A-11D-A32B-08	TCGA-DB-A75K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3788075-215e-4535-b4bd-cc40fdaf52aa	fed87034-a0a0-4c98-a951-f1a46983aba5	g.chr2:17836522C>T	ENST00000406397.1	+	4	962	c.437C>T	c.(436-438)aCg>aTg	p.T146M	VSNL1_ENST00000295156.4_Missense_Mutation_p.T146M|VSNL1_ENST00000404666.2_Missense_Mutation_p.T146M			P62760	VISL1_HUMAN	visinin-like 1	146	EF-hand 4.						calcium ion binding			NS(1)|breast(1)|kidney(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					GATGGCCTGACGCCTGAGCAG	0.428													36	49					0	0	1	0	0	T	17836522	C	T	17836522	3	4	50	1	0	0	0	0	1	0	0	0	17287	536	19	1	447	1	VSNL1	2	17836522	Missense_Mutation	SNP	C	TCGA-DB-A75K-01A-11D-A32B-08		17836522	225362851	5	2158											
TTC7A	57217	broad.mit.edu	37	2	47222318	47222318	+	Missense_Mutation	SNP	C	C	A			TCGA-DB-A75K-01A-11D-A32B-08	TCGA-DB-A75K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3788075-215e-4535-b4bd-cc40fdaf52aa	fed87034-a0a0-4c98-a951-f1a46983aba5	g.chr2:47222318C>A	ENST00000319190.5	+	8	1413	c.1045C>A	c.(1045-1047)Ctc>Atc	p.L349I	TTC7A_ENST00000409245.1_Missense_Mutation_p.L315I|TTC7A_ENST00000461601.1_3'UTR|TTC7A_ENST00000394850.2_Missense_Mutation_p.L349I|TTC7A_ENST00000263737.6_5'UTR	NM_020458.2	NP_065191.2	Q9ULT0	TTC7A_HUMAN	tetratricopeptide repeat domain 7A	349							binding			breast(4)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)			CCTCCTGCTCCTCCTCATCAG	0.607													3	27					0.00024832	0.000252919	1	1	0	A	47222318	C	A	47222318	3	1	50	1	0	0	0	0	1	0	0	0	16774	681	24	4	1075	4	TTC7A	2	47222318	Missense_Mutation	SNP	C	TCGA-DB-A75K-01A-11D-A32B-08	29385796	47222318	195977055	6	2159											
RIF1	55183	broad.mit.edu	37	2	152311623	152311623	+	Missense_Mutation	SNP	A	A	C			TCGA-DB-A75K-01A-11D-A32B-08	TCGA-DB-A75K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3788075-215e-4535-b4bd-cc40fdaf52aa	fed87034-a0a0-4c98-a951-f1a46983aba5	g.chr2:152311623A>C	ENST00000243326.5	+	21	3042	c.2559A>C	c.(2557-2559)aaA>aaC	p.K853N	RIF1_ENST00000444746.2_Missense_Mutation_p.K853N|RIF1_ENST00000453091.2_Missense_Mutation_p.K853N|RIF1_ENST00000428287.2_Missense_Mutation_p.K853N|RIF1_ENST00000430328.2_Missense_Mutation_p.K853N			Q5UIP0	RIF1_HUMAN	RAP1 interacting factor homolog (yeast)						cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		TGATCCGAAAAATATTTGCAA	0.333													51	57					0	0	1	0	0	C	152311623	A	C	152311623	3	2	50	1	0	0	0	0	1	0	0	0	13409	11	1	5	2641	5	RIF1	2	152311623	Missense_Mutation	SNP	A	TCGA-DB-A75K-01A-11D-A32B-08	105089305	152311623	90887750	7	2160											
TTN	7273	broad.mit.edu	37	2	179433400	179433400	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A75K-01A-11D-A32B-08	TCGA-DB-A75K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3788075-215e-4535-b4bd-cc40fdaf52aa	fed87034-a0a0-4c98-a951-f1a46983aba5	g.chr2:179433400G>A	ENST00000589042.1	-	326	77683	c.77459C>T	c.(77458-77460)cCa>cTa	p.P25820L	TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P16947L|TTN_ENST00000591111.1_Missense_Mutation_p.P24179L|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P16880L|TTN_ENST00000460472.2_Missense_Mutation_p.P16755L|TTN_ENST00000342992.6_Missense_Mutation_p.P23252L|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592689.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	24179	Fibronectin type-III 87.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCCAGAAATTGGCACTTCTAT	0.433													32	51					0	0	1	0	0	A	179433400	G	A	179433400	3	1	50	1	0	0	0	0	1	0	0	0	16797	1348	47	2	30668	2	TTN	2	179433400	Missense_Mutation	SNP	G	TCGA-DB-A75K-01A-11D-A32B-08	27121777	179433400	63765973	8	2161											
DNAH7	56171	broad.mit.edu	37	2	196756529	196756529	+	Splice_Site	SNP	C	C	A			TCGA-DB-A75K-01A-11D-A32B-08	TCGA-DB-A75K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3788075-215e-4535-b4bd-cc40fdaf52aa	fed87034-a0a0-4c98-a951-f1a46983aba5	g.chr2:196756529C>A	ENST00000312428.6	-	31	4997		c.e31-1			NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7						ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						CCATTAGCCCCTTAATGAAAA	0.313													4	26					0.00909568	0.00909568	1	1	0	A	196756529	C	A	196756529	5	1	50	1	0	0	0	0	0	0	1	0	4633	695	24	4	7318	4	DNAH7	2	196756529	Splice_Site	SNP	C	TCGA-DB-A75K-01A-11D-A32B-08	17323129	196756529	46442844	9	2162											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-DB-A75K-01A-11D-A32B-08	TCGA-DB-A75K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3788075-215e-4535-b4bd-cc40fdaf52aa	fed87034-a0a0-4c98-a951-f1a46983aba5	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	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								26	34					0	0	1	0	0	T	209113112	C	T	209113112	3	4	50	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-DB-A75K-01A-11D-A32B-08	12356583	209113112	34086261	10	2163											
CCR3	1232	broad.mit.edu	37	3	46307553	46307553	+	Missense_Mutation	SNP	G	G	A	rs139319342	by1000genomes	TCGA-DB-A75K-01A-11D-A32B-08	TCGA-DB-A75K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3788075-215e-4535-b4bd-cc40fdaf52aa	fed87034-a0a0-4c98-a951-f1a46983aba5	g.chr3:46307553G>A	ENST00000357422.2	+	4	1447	c.904G>A	c.(904-906)Gcc>Acc	p.A302T	CCR3_ENST00000395940.2_Missense_Mutation_p.A302T|CCR3_ENST00000395942.2_Missense_Mutation_p.A302T|CCR3_ENST00000541018.1_Missense_Mutation_p.A302T|CCR3_ENST00000545097.1_Missense_Mutation_p.A323T			P51677	CCR3_HUMAN	chemokine (C-C motif) receptor 3	302					cell adhesion|cellular defense response|chemotaxis|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cAMP nucleotide second messenger|inflammatory response|interspecies interaction between organisms|positive regulation of angiogenesis	integral to plasma membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(3)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(193;0.00119)|KIRC - Kidney renal clear cell carcinoma(197;0.0183)|Kidney(197;0.0216)		GGTGATCTACGCCTTTGTTGG	0.537													18	29					0	0	1	0	0	A	46307553	G	A	46307553	3	1	50	1	0	0	0	0	1	0	0	0	2964	1087	38	1	973	1	CCR3	3	46307553	Missense_Mutation	SNP	G	TCGA-DB-A75K-01A-11D-A32B-08		46307553	151714877	11	2164											
PTPN23	25930	broad.mit.edu	37	3	47451444	47451444	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A75K-01A-11D-A32B-08	TCGA-DB-A75K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3788075-215e-4535-b4bd-cc40fdaf52aa	fed87034-a0a0-4c98-a951-f1a46983aba5	g.chr3:47451444G>A	ENST00000265562.4	+	20	2233	c.2156G>A	c.(2155-2157)cGg>cAg	p.R719Q	PTPN23_ENST00000431726.1_Missense_Mutation_p.R593Q	NM_015466.2	NP_056281.1	Q9H3S7	PTN23_HUMAN	protein tyrosine phosphatase, non-receptor type 23	719	Pro-rich.				cilium morphogenesis	cilium|cytoplasmic membrane-bounded vesicle|microtubule basal body	protein tyrosine phosphatase activity			breast(3)|central_nervous_system(1)|large_intestine(5)|lung(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CCGCCGCCACGGCCCACAGCC	0.677													6	9					0	0	1	0	0	A	47451444	G	A	47451444	3	1	50	1	0	0	0	0	1	0	0	0	12840	1116	39	1	2234	1	PTPN23	3	47451444	Missense_Mutation	SNP	G	TCGA-DB-A75K-01A-11D-A32B-08	1143891	47451444	150570986	12	2165											
TLR10	81793	broad.mit.edu	37	4	38776169	38776169	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A75K-01A-11D-A32B-08	TCGA-DB-A75K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3788075-215e-4535-b4bd-cc40fdaf52aa	fed87034-a0a0-4c98-a951-f1a46983aba5	g.chr4:38776169G>A	ENST00000308973.4	-	4	1648	c.1043C>T	c.(1042-1044)aCg>aTg	p.T348M	TLR10_ENST00000508334.1_Missense_Mutation_p.T348M|TLR10_ENST00000361424.2_Missense_Mutation_p.T348M|TLR10_ENST00000506111.1_Missense_Mutation_p.T348M	NM_001017388.2|NM_001195107.1|NM_030956.3	NP_001017388.1|NP_001182036.1|NP_112218.2	Q9BXR5	TLR10_HUMAN	toll-like receptor 10	348					inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane	transmembrane receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(2)	25						TTGGAATTTCGTAGGATAATT	0.333													37	66					0	0	1	0	0	A	38776169	G	A	38776169	3	1	50	1	0	0	0	0	1	0	0	0	16010	1145	40	1	1396	1	TLR10	4	38776169	Missense_Mutation	SNP	G	TCGA-DB-A75K-01A-11D-A32B-08		38776169	152378107	13	2166											
HMGB2	3148	broad.mit.edu	37	4	174254742	174254742	+	Missense_Mutation	SNP	A	A	C			TCGA-DB-A75K-01A-11D-A32B-08	TCGA-DB-A75K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3788075-215e-4535-b4bd-cc40fdaf52aa	fed87034-a0a0-4c98-a951-f1a46983aba5	g.chr4:174254742A>C	ENST00000296503.5	-	2	932	c.59T>G	c.(58-60)gTg>gGg	p.V20G	HMGB2_ENST00000438704.2_Missense_Mutation_p.V20G|HMGB2_ENST00000446922.2_Missense_Mutation_p.V20G			P26583	HMGB2_HUMAN	high mobility group box 2	20					base-excision repair, DNA ligation|cell chemotaxis|cellular response to lipopolysaccharide|DNA fragmentation involved in apoptotic nuclear change|DNA topological change|negative regulation of transcription, DNA-dependent|nucleosome assembly|phosphatidylinositol-mediated signaling|positive regulation of DNA binding|positive regulation of endothelial cell proliferation|positive regulation of erythrocyte differentiation|positive regulation of megakaryocyte differentiation|positive regulation of nuclease activity|positive regulation of transcription from RNA polymerase II promoter|V(D)J recombination	condensed chromosome|extracellular space|nucleolus|nucleoplasm|perinuclear region of cytoplasm|protein complex	chemoattractant activity|damaged DNA binding|DNA bending activity|double-stranded DNA binding|RAGE receptor binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding|transcription regulatory region DNA binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|urinary_tract(3)	14		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)		all cancers(43;9.58e-18)|Epithelial(43;3.75e-16)|OV - Ovarian serous cystadenocarcinoma(60;6.24e-09)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249)		GCAGGTCTGCACGAAGAAGGC	0.577													6	80					0	0	1	0	0	C	174254742	A	C	174254742	3	2	50	1	0	0	0	0	1	0	0	0	7267	159	6	5	586	5	HMGB2	4	174254742	Missense_Mutation	SNP	A	TCGA-DB-A75K-01A-11D-A32B-08	135478573	174254742	16899534	14	2167											
FUCA2	2519	broad.mit.edu	37	6	143818529	143818529	+	Silent	SNP	T	T	G			TCGA-DB-A75K-01A-11D-A32B-08	TCGA-DB-A75K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3788075-215e-4535-b4bd-cc40fdaf52aa	fed87034-a0a0-4c98-a951-f1a46983aba5	g.chr6:143818529T>G	ENST00000002165.6	-	6	1315	c.1260A>C	c.(1258-1260)acA>acC	p.T420T	RP1-20N2.6_ENST00000591892.1_RNA|FUCA2_ENST00000438118.2_3'UTR|RP1-20N2.6_ENST00000610068.1_RNA|RP1-20N2.6_ENST00000589563.1_RNA	NM_032020.4	NP_114409.2	Q9BTY2	FUCO2_HUMAN	fucosidase, alpha-L- 2, plasma						fucose metabolic process	extracellular region	alpha-L-fucosidase activity|cation binding			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9				OV - Ovarian serous cystadenocarcinoma(155;7.45e-06)|GBM - Glioblastoma multiforme(68;0.0142)		CTCTTACCTCTGTTGCCCCCA	0.388													19	22					0	0	1	0	0	G	143818529	T	G	143818529	2	3	50	1	0	0	0	0	0	0	0	1	6130	1567	55	5		5	FUCA2	6	143818529	Silent	SNP	T	TCGA-DB-A75K-01A-11D-A32B-08		143818529	27296538	15	2168											
LPA	4018	broad.mit.edu	37	6	161026077	161026077	+	Splice_Site	SNP	C	C	T			TCGA-DB-A75K-01A-11D-A32B-08	TCGA-DB-A75K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3788075-215e-4535-b4bd-cc40fdaf52aa	fed87034-a0a0-4c98-a951-f1a46983aba5	g.chr6:161026077C>T	ENST00000447678.1	-	19	3066		c.e19+1		LPA_ENST00000316300.5_Splice_Site	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN	lipoprotein, Lp(a)						blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity	p.?(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	AATAGACATACGCATTTGGGT	0.443													5	421					0	0	1	0	0	T	161026077	C	T	161026077	5	4	50	1	0	0	0	0	0	0	1	0	8948	550	19	1	3264	1	LPA	6	161026077	Splice_Site	SNP	C	TCGA-DB-A75K-01A-11D-A32B-08	17207548	161026077	10088990	16	2169											
NPC1L1	29881	broad.mit.edu	37	7	44579885	44579885	+	Silent	SNP	G	G	A	rs143153721		TCGA-DB-A75K-01A-11D-A32B-08	TCGA-DB-A75K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3788075-215e-4535-b4bd-cc40fdaf52aa	fed87034-a0a0-4c98-a951-f1a46983aba5	g.chr7:44579885G>A	ENST00000289547.4	-	2	166	c.111C>T	c.(109-111)gaC>gaT	p.D37D	NPC1L1_ENST00000423141.1_Silent_p.D37D|NPC1L1_ENST00000381160.3_Silent_p.D37D|NPC1L1_ENST00000546276.1_Silent_p.D37D	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	37					cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	TCCCACATTCGTCATAGAAGG	0.592													18	44					0	0	1	0	0	A	44579885	G	A	44579885	2	1	50	1	0	0	0	0	0	0	0	1	10618	1136	40	1		1	NPC1L1	7	44579885	Silent	SNP	G	TCGA-DB-A75K-01A-11D-A32B-08		44579885	114558778	17	2170											
FLNC	2318	broad.mit.edu	37	7	128482744	128482745	+	Frame_Shift_Ins	INS	-	-	G			TCGA-DB-A75K-01A-11D-A32B-08	TCGA-DB-A75K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3788075-215e-4535-b4bd-cc40fdaf52aa	fed87034-a0a0-4c98-a951-f1a46983aba5	g.chr7:128482744_128482745insG	ENST00000325888.8	+	15	2642_2643	c.2381_2382insG	c.(2380-2385)gcggggfs	p.AG794fs	FLNC_ENST00000346177.6_Frame_Shift_Ins_p.AG794fs	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	794					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						TGCAGCGAGGCGGGGCAAGGTG	0.688													2	4	---	---	---	---						G	128482745	-	G	128482744	7	5	50	1	0	1	1	0	0	0	0	0	5968	768	27	0	2439	0	FLNC	7	128482744	Frame_Shift_Ins	INS	-	TCGA-DB-A75K-01A-11D-A32B-08	83902859	128482744	30655919	18	2171											
CA1	759	broad.mit.edu	37	8	86249204	86249204	+	Silent	SNP	A	A	G			TCGA-DB-A75K-01A-11D-A32B-08	TCGA-DB-A75K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3788075-215e-4535-b4bd-cc40fdaf52aa	fed87034-a0a0-4c98-a951-f1a46983aba5	g.chr8:86249204A>G	ENST00000523953.1	-	5	1370	c.324T>C	c.(322-324)caT>caC	p.H108H	CA1_ENST00000518341.1_5'UTR|CA1_ENST00000432364.2_Silent_p.H108H|CA1_ENST00000256119.5_Silent_p.H108H|CA1_ENST00000431316.1_Silent_p.H108H|CA1_ENST00000522389.1_Intron|CA1_ENST00000523022.1_Silent_p.H108H|CA1_ENST00000542576.1_Silent_p.H108H			P00915	CAH1_HUMAN	carbonic anhydrase I	108					one-carbon metabolic process	Golgi apparatus	carbonate dehydratase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	13		all_lung(136;4.89e-06)			Acetazolamide(DB00819)|Amlodipine(DB00381)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Dichlorphenamide(DB01144)|Ethinamate(DB01031)|Ethoxzolamide(DB00311)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Levetiracetam(DB01202)|Methazolamide(DB00703)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)|Verapamil(DB00661)|Zonisamide(DB00909)	CATCCACTGTATGTTCTGAAC	0.433													4	73					0	0	1	0	0	G	86249204	A	G	86249204	2	3	50	1	0	0	0	0	0	0	0	1	2528	446	16	3		3	CA1	8	86249204	Silent	SNP	A	TCGA-DB-A75K-01A-11D-A32B-08		86249204	60114818	19	2172											
TNFRSF11B	4982	broad.mit.edu	37	8	119941085	119941085	+	Nonsense_Mutation	SNP	T	T	A			TCGA-DB-A75K-01A-11D-A32B-08	TCGA-DB-A75K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3788075-215e-4535-b4bd-cc40fdaf52aa	fed87034-a0a0-4c98-a951-f1a46983aba5	g.chr8:119941085T>A	ENST00000297350.4	-	3	862	c.484A>T	c.(484-486)Aaa>Taa	p.K162*		NM_002546.3	NP_002537.3	O00300	TR11B_HUMAN	tumor necrosis factor receptor superfamily, member 11b	162					apoptosis|skeletal system development		cytokine activity|receptor activity			breast(1)|central_nervous_system(3)|endometrium(4)|large_intestine(6)|lung(7)|prostate(3)|skin(1)	25	all_cancers(13;3.71e-26)|Lung NSC(37;1.69e-07)|Ovarian(258;0.018)|all_neural(195;0.0592)|Hepatocellular(40;0.234)		STAD - Stomach adenocarcinoma(47;0.00193)			TTTGTGTGTTTTCTACAGGGT	0.413													61	96					0	0	1	0	0	A	119941085	T	A	119941085	4	1	50	1	0	0	0	0	0	1	0	0	16345	1850	64	5	733	5	TNFRSF11B	8	119941085	Nonsense_Mutation	SNP	T	TCGA-DB-A75K-01A-11D-A32B-08	33691881	119941085	26422937	20	2173											
NOTCH1	4851	broad.mit.edu	37	9	139413070	139413072	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-DB-A75K-01A-11D-A32B-08	TCGA-DB-A75K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3788075-215e-4535-b4bd-cc40fdaf52aa	fed87034-a0a0-4c98-a951-f1a46983aba5	g.chr9:139413070_139413072delAGA	ENST00000277541.6	-	6	1145_1147	c.1070_1072delTCT	c.(1069-1074)ttctac>tac	p.F357del		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	357	EGF-like 9; calcium-binding (Potential).				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	p.F357delF(4)		breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CACTCGCAGTAGAAGGAGGCCAC	0.655			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			9	28	---	---	---	---						-	139413072	AGA	-	139413070	7	5	50	1	0	1	0	1	0	0	0	0	10594	420	15	0	6711	0	NOTCH1	9	139413070	In_Frame_Del	DEL	AGA	TCGA-DB-A75K-01A-11D-A32B-08		139413070	1800361	21	2174											
CDHR1	92211	broad.mit.edu	37	10	85961671	85961671	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A75K-01A-11D-A32B-08	TCGA-DB-A75K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3788075-215e-4535-b4bd-cc40fdaf52aa	fed87034-a0a0-4c98-a951-f1a46983aba5	g.chr10:85961671G>A	ENST00000372117.3	+	7	737	c.634G>A	c.(634-636)Gcc>Acc	p.A212T	CDHR1_ENST00000440770.2_5'UTR|CDHR1_ENST00000332904.3_Missense_Mutation_p.A212T	NM_033100.2	NP_149091.1	Q96JP9	CDHR1_HUMAN	cadherin-related family member 1	212	Cadherin 2.		A -> T.		homophilic cell adhesion		calcium ion binding|receptor activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						CACCGTGGTCGCCAAGGTAAC	0.617													8	15					0	0	1	0	0	A	85961671	G	A	85961671	3	1	50	1	0	0	0	0	1	0	0	0	3140	1087	38	1	660	1	CDHR1	10	85961671	Missense_Mutation	SNP	G	TCGA-DB-A75K-01A-11D-A32B-08		85961671	49573076	22	2175											
CSTF3	1479	broad.mit.edu	37	11	33108639	33108639	+	Missense_Mutation	SNP	C	C	A			TCGA-DB-A75K-01A-11D-A32B-08	TCGA-DB-A75K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3788075-215e-4535-b4bd-cc40fdaf52aa	fed87034-a0a0-4c98-a951-f1a46983aba5	g.chr11:33108639C>A	ENST00000323959.4	-	18	1829	c.1690G>T	c.(1690-1692)Gct>Tct	p.A564S	TCP11L1_ENST00000324357.9_Intron	NM_001326.2	NP_001317.1	Q12996	CSTF3_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 3, 77kDa	564	Pro-rich.				mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	protein binding|RNA binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(1)|stomach(1)	19						ATAGAAGGAGCTACAACTGGG	0.433													105	155					5.62818e-54	6.06961e-54	1	1	0	A	33108639	C	A	33108639	3	1	50	1	0	0	0	0	1	0	0	0	4011	797	28	4	479	4	CSTF3	11	33108639	Missense_Mutation	SNP	C	TCGA-DB-A75K-01A-11D-A32B-08		33108639	101897877	23	2176											
CDC42BPG	55561	broad.mit.edu	37	11	64595069	64595069	+	Silent	SNP	A	A	G			TCGA-DB-A75K-01A-11D-A32B-08	TCGA-DB-A75K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3788075-215e-4535-b4bd-cc40fdaf52aa	fed87034-a0a0-4c98-a951-f1a46983aba5	g.chr11:64595069A>G	ENST00000342711.5	-	32	4079	c.4080T>C	c.(4078-4080)aaT>aaC	p.N1360N		NM_017525.2	NP_059995.2	Q6DT37	MRCKG_HUMAN	CDC42 binding protein kinase gamma (DMPK-like)	1360	CNH.				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						AGCCCTCTGGATTGAGGGGCC	0.677													5	8					0	0	1	0	0	G	64595069	A	G	64595069	2	3	50	1	0	0	0	0	0	0	0	1	3096	330	12	3		3	CDC42BPG	11	64595069	Silent	SNP	A	TCGA-DB-A75K-01A-11D-A32B-08	31486430	64595069	70411447	24	2177											
EMG1	10436	broad.mit.edu	37	12	7080210	7080211	+	Splice_Site	INS	-	-	G	rs141646579	by1000genomes	TCGA-DB-A75K-01A-11D-A32B-08	TCGA-DB-A75K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3788075-215e-4535-b4bd-cc40fdaf52aa	fed87034-a0a0-4c98-a951-f1a46983aba5	g.chr12:7080210_7080211insG	ENST00000261406.6	+	2	266		c.e2-1		EMG1_ENST00000546220.1_3'UTR	NM_006331.7	NP_006322.4	Q92979	NEP1_HUMAN	EMG1 N1-specific pseudouridine methyltransferase						ribosomal small subunit biogenesis	cytoplasm|nucleolus	rRNA (pseudouridine) methyltransferase activity|rRNA binding										CGGAGGCCGTAGTTTATTGTGG	0.569													5	6	---	---	---	---						G	7080211	-	G	7080210	8	5	50	1	0	1	1	0	0	0	1	0	5118	420	15	0	126	0	EMG1	12	7080210	Splice_Site	INS	-	TCGA-DB-A75K-01A-11D-A32B-08		7080210	126771685	25	2178											
HNRNPA1	3178	broad.mit.edu	37	12	54676979	54676979	+	Missense_Mutation	SNP	T	T	G			TCGA-DB-A75K-01A-11D-A32B-08	TCGA-DB-A75K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3788075-215e-4535-b4bd-cc40fdaf52aa	fed87034-a0a0-4c98-a951-f1a46983aba5	g.chr12:54676979T>G	ENST00000340913.6	+	8	921	c.868T>G	c.(868-870)Tat>Gat	p.Y290D	HNRNPA1_ENST00000546500.1_Intron|HNRNPA1_ENST00000547276.1_Intron|HNRNPA1_ENST00000330752.8_Intron|RP11-968A15.8_ENST00000553061.1_RNA	NM_002136.2|NM_031157.2	NP_002127.1|NP_112420.1	P09651	ROA1_HUMAN	heterogeneous nuclear ribonucleoprotein A1	290	Gly-rich.				interspecies interaction between organisms|mRNA transport|nuclear import	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	nucleotide binding|protein binding|single-stranded DNA binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	20						CTATGACAGCTATAACAACGG	0.552													6	12					0	0	1	0	0	G	54676979	T	G	54676979	3	3	50	1	0	0	0	0	1	0	0	0	7298	1522	53	5	898	5	HNRNPA1	12	54676979	Missense_Mutation	SNP	T	TCGA-DB-A75K-01A-11D-A32B-08	47596769	54676979	79174916	26	2179											
UTP20	27340	broad.mit.edu	37	12	101720955	101720955	+	Silent	SNP	C	C	T			TCGA-DB-A75K-01A-11D-A32B-08	TCGA-DB-A75K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3788075-215e-4535-b4bd-cc40fdaf52aa	fed87034-a0a0-4c98-a951-f1a46983aba5	g.chr12:101720955C>T	ENST00000261637.4	+	26	3312	c.3138C>T	c.(3136-3138)gcC>gcT	p.A1046A		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	1046					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						GGTTCCTGGCCGGGACCCAAC	0.478													39	78					0	0	1	0	0	T	101720955	C	T	101720955	2	4	50	1	0	0	0	0	0	0	0	1	17159	639	23	1		1	UTP20	12	101720955	Silent	SNP	C	TCGA-DB-A75K-01A-11D-A32B-08	47043976	101720955	32130940	27	2180											
RFX4	5992	broad.mit.edu	37	12	107080822	107080823	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DB-A75K-01A-11D-A32B-08	TCGA-DB-A75K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3788075-215e-4535-b4bd-cc40fdaf52aa	fed87034-a0a0-4c98-a951-f1a46983aba5	g.chr12:107080822_107080823insA	ENST00000392842.1	+	6	952_953	c.538_539insA	c.(538-540)gaafs	p.E180fs	RFX4_ENST00000229387.5_Frame_Shift_Ins_p.E86fs|RFX4_ENST00000357881.4_Frame_Shift_Ins_p.E189fs|RP11-144F15.1_ENST00000551505.1_Intron	NM_213594.2	NP_998759.1	Q33E94	RFX4_HUMAN	regulatory factor X, 4 (influences HLA class II expression)	180					transcription, DNA-dependent	nucleus	DNA binding			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(20)|pancreas(1)|upper_aerodigestive_tract(1)	35						ACTGCTGCCAGAATTTCCCAAT	0.5													85	146	---	---	---	---						A	107080823	-	A	107080822	7	5	50	1	0	1	1	0	0	0	0	0	13317	943	33	0	733	0	RFX4	12	107080822	Frame_Shift_Ins	INS	-	TCGA-DB-A75K-01A-11D-A32B-08	5359867	107080822	26771073	28	2181											
PCCA	5095	broad.mit.edu	37	13	100992463	100992465	+	In_Frame_Del	DEL	ATT	ATT	-			TCGA-DB-A75K-01A-11D-A32B-08	TCGA-DB-A75K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3788075-215e-4535-b4bd-cc40fdaf52aa	fed87034-a0a0-4c98-a951-f1a46983aba5	g.chr13:100992463_100992465delATT	ENST00000376285.1	+	18	1631_1633	c.1593_1595delATT	c.(1591-1596)tcattg>tcg	p.L532del	PCCA_ENST00000376279.3_In_Frame_Del_p.L532del|PCCA_ENST00000376286.4_In_Frame_Del_p.L506del	NM_000282.3	NP_000273.2	P05165	PCCA_HUMAN	propionyl CoA carboxylase, alpha polypeptide	532			Missing (in PA-1).		fatty acid beta-oxidation	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|enzyme binding|metal ion binding|propionyl-CoA carboxylase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|prostate(1)|skin(2)	26	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Biotin(DB00121)	TAGCATCATCATTGTTTGTGGCA	0.33													37	61	---	---	---	---						-	100992465	ATT	-	100992463	7	5	50	1	0	1	0	1	0	0	0	0	11551	204	8	0	1663	0	PCCA	13	100992463	In_Frame_Del	DEL	ATT	TCGA-DB-A75K-01A-11D-A32B-08		100992463	14177415	29	2182											
FANCI	55215	broad.mit.edu	37	15	89837157	89837157	+	Missense_Mutation	SNP	A	A	C			TCGA-DB-A75K-01A-11D-A32B-08	TCGA-DB-A75K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3788075-215e-4535-b4bd-cc40fdaf52aa	fed87034-a0a0-4c98-a951-f1a46983aba5	g.chr15:89837157A>C	ENST00000310775.7	+	23	2471	c.2385A>C	c.(2383-2385)aaA>aaC	p.K795N	FANCI_ENST00000300027.8_Missense_Mutation_p.K795N	NM_001113378.1	NP_001106849.1	Q9NVI1	FANCI_HUMAN	Fanconi anemia, complementation group I	795					cell cycle|DNA repair	nucleoplasm	protein binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	Lung NSC(78;0.0472)|all_lung(78;0.089)					CCAAAACTAAAATGGCCAACA	0.363								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				30	68					0	0	1	0	0	C	89837157	A	C	89837157	3	2	50	1	0	0	0	0	1	0	0	0	5702	11	1	5	2471	5	FANCI	15	89837157	Missense_Mutation	SNP	A	TCGA-DB-A75K-01A-11D-A32B-08		89837157	12694235	30	2183											
ITGAM	3684	broad.mit.edu	37	16	31309175	31309175	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A75K-01A-11D-A32B-08	TCGA-DB-A75K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3788075-215e-4535-b4bd-cc40fdaf52aa	fed87034-a0a0-4c98-a951-f1a46983aba5	g.chr16:31309175C>T	ENST00000544665.3	+	14	1681	c.1610C>T	c.(1609-1611)aCg>aTg	p.T537M	ITGAM_ENST00000287497.8_Missense_Mutation_p.T536M	NM_000632.3|NM_001145808.1	NP_000623.2|NP_001139280.1	P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)	536					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						GACAAGCTGACGGACGTGGCC	0.622													26	50					0	0	1	0	0	T	31309175	C	T	31309175	3	4	50	1	0	0	0	0	1	0	0	0	7931	536	19	1	1664	1	ITGAM	16	31309175	Missense_Mutation	SNP	C	TCGA-DB-A75K-01A-11D-A32B-08		31309175	59045578	31	2184											
MYLK3	91807	broad.mit.edu	37	16	46762982	46762982	+	Missense_Mutation	SNP	A	A	C			TCGA-DB-A75K-01A-11D-A32B-08	TCGA-DB-A75K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3788075-215e-4535-b4bd-cc40fdaf52aa	fed87034-a0a0-4c98-a951-f1a46983aba5	g.chr16:46762982A>C	ENST00000394809.4	-	7	1841	c.1726T>G	c.(1726-1728)Tat>Gat	p.Y576D	MYLK3_ENST00000536476.1_Missense_Mutation_p.Y235D	NM_182493.2	NP_872299.2	Q32MK0	MYLK3_HUMAN	myosin light chain kinase 3	576	Protein kinase.				cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis	cytosol	ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3)	37		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				AAGGCGTCATAGAGCTGGATC	0.577													32	88					0	0	1	0	0	C	46762982	A	C	46762982	3	2	50	1	0	0	0	0	1	0	0	0	10106	420	15	5	761	5	MYLK3	16	46762982	Missense_Mutation	SNP	A	TCGA-DB-A75K-01A-11D-A32B-08	15453807	46762982	43591771	32	2185											
FHOD1	29109	broad.mit.edu	37	16	67264350	67264350	+	Missense_Mutation	SNP	A	A	C			TCGA-DB-A75K-01A-11D-A32B-08	TCGA-DB-A75K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3788075-215e-4535-b4bd-cc40fdaf52aa	fed87034-a0a0-4c98-a951-f1a46983aba5	g.chr16:67264350A>C	ENST00000258201.4	-	19	3165	c.2918T>G	c.(2917-2919)aTc>aGc	p.I973S		NM_013241.2	NP_037373.2	Q9Y613	FHOD1_HUMAN	formin homology 2 domain containing 1	973	FH2.				actin cytoskeleton organization	cytoplasm|cytoskeleton|nucleus	actin binding			breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	34		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)		GAACTGCATGATGCGCACTTC	0.592													23	49					0	0	1	0	0	C	67264350	A	C	67264350	3	2	50	1	0	0	0	0	1	0	0	0	5915	333	12	4	592	4	FHOD1	16	67264350	Missense_Mutation	SNP	A	TCGA-DB-A75K-01A-11D-A32B-08	20501368	67264350	23090403	33	2186											
ALOX15	246	broad.mit.edu	37	17	4542424	4542424	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A75K-01A-11D-A32B-08	TCGA-DB-A75K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3788075-215e-4535-b4bd-cc40fdaf52aa	fed87034-a0a0-4c98-a951-f1a46983aba5	g.chr17:4542424C>T	ENST00000570836.1	-	4	437	c.341G>A	c.(340-342)cGc>cAc	p.R114H	ALOX15_ENST00000293761.3_Missense_Mutation_p.R114H|ALOX15_ENST00000574640.1_Missense_Mutation_p.R75H|ALOX15_ENST00000545513.1_Missense_Mutation_p.R136H			P16050	LOX15_HUMAN	arachidonate 15-lipoxygenase	114	PLAT.				inflammatory response|leukotriene biosynthetic process	nucleus	arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity	p.R114H(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(5)	20				READ - Rectum adenocarcinoma(115;0.0327)	Ciclopirox(DB01188)|Masoprocol(DB00179)|Zileuton(DB00744)	GCCCACAGTGCGGCCTAGAAG	0.607													4	172					0	0	1	0	0	T	4542424	C	T	4542424	3	4	50	1	0	0	0	0	1	0	0	0	534	768	27	1	1695	1	ALOX15	17	4542424	Missense_Mutation	SNP	C	TCGA-DB-A75K-01A-11D-A32B-08		4542424	76652786	34	2187											
NF1	4763	broad.mit.edu	37	17	29684326	29684326	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DB-A75K-01A-11D-A32B-08	TCGA-DB-A75K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3788075-215e-4535-b4bd-cc40fdaf52aa	fed87034-a0a0-4c98-a951-f1a46983aba5	g.chr17:29684326C>T	ENST00000358273.4	+	54	8292	c.7909C>T	c.(7909-7911)Cga>Tga	p.R2637*	NF1_ENST00000417592.2_3'UTR|NF1_ENST00000444181.2_Nonsense_Mutation_p.R430*|NF1_ENST00000356175.3_Nonsense_Mutation_p.R2616*	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	2637					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(3)|p.R2637*(1)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		GTTTGATCAACGAATTCTTTA	0.368			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			34	76					0	0	1	0	0	T	29684326	C	T	29684326	4	4	50	1	0	0	0	0	0	1	0	0	10403	528	19	1	8184	1	NF1	17	29684326	Nonsense_Mutation	SNP	C	TCGA-DB-A75K-01A-11D-A32B-08	25141902	29684326	51510884	35	2188											
MC5R	4161	broad.mit.edu	37	18	13826400	13826400	+	Silent	SNP	G	G	A			TCGA-DB-A75K-01A-11D-A32B-08	TCGA-DB-A75K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3788075-215e-4535-b4bd-cc40fdaf52aa	fed87034-a0a0-4c98-a951-f1a46983aba5	g.chr18:13826400G>A	ENST00000324750.3	+	1	858	c.636G>A	c.(634-636)gcG>gcA	p.A212A		NM_005913.2	NP_005904.1	P33032	MC5R_HUMAN	melanocortin 5 receptor	212					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocortin receptor activity|protein binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|upper_aerodigestive_tract(1)	41						TCCTCCTGGCGCGGACTCACG	0.612													9	593					0	0	1	0	0	A	13826400	G	A	13826400	2	1	50	1	0	0	0	0	0	0	0	1	9417	1074	38	1		1	MC5R	18	13826400	Silent	SNP	G	TCGA-DB-A75K-01A-11D-A32B-08		13826400	64250848	36	2189											
CIC	23152	broad.mit.edu	37	19	42791479	42791480	+	Frame_Shift_Ins	INS	-	-	C			TCGA-DB-A75K-01A-11D-A32B-08	TCGA-DB-A75K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3788075-215e-4535-b4bd-cc40fdaf52aa	fed87034-a0a0-4c98-a951-f1a46983aba5	g.chr19:42791479_42791480insC	ENST00000572681.2	+	5	3255_3256	c.3187_3188insC	c.(3187-3189)tccfs	p.S1063fs	CIC_ENST00000575354.2_Frame_Shift_Ins_p.S154fs|CIC_ENST00000160740.3_Frame_Shift_Ins_p.S154fs			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	154	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CAGCTTCCTCTCCATCATGTCT	0.609			"Mis, F, S"		oligodendroglioma								21	20	---	---	---	---						C	42791480	-	C	42791479	7	5	50	1	0	1	1	0	0	0	0	0	3446	1551	54	0	474	0	CIC	19	42791479	Frame_Shift_Ins	INS	-	TCGA-DB-A75K-01A-11D-A32B-08		42791479	16337504	37	2190											
GLTSCR1	29998	broad.mit.edu	37	19	48204938	48204938	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DB-A75K-01A-11D-A32B-08	TCGA-DB-A75K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3788075-215e-4535-b4bd-cc40fdaf52aa	fed87034-a0a0-4c98-a951-f1a46983aba5	g.chr19:48204938delG	ENST00000396720.3	+	15	4143	c.3949delG	c.(3949-3951)gggfs	p.G1317fs	CTD-2571L23.8_ENST00000599924.1_lincRNA	NM_015711.3	NP_056526.3	Q9NZM4	GSCR1_HUMAN	glioma tumor suppressor candidate region gene 1	1317							protein binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|pancreas(3)|prostate(4)|skin(2)	20		all_cancers(25;1.8e-07)|all_lung(116;5.73e-06)|Lung NSC(112;9.69e-06)|all_epithelial(76;2.42e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		all cancers(93;0.000358)|OV - Ovarian serous cystadenocarcinoma(262;0.000576)|Epithelial(262;0.0212)|GBM - Glioblastoma multiforme(486;0.0355)		GCAGGAAGCCGGGCTCAGCAA	0.721													2	4	---	---	---	---						-	48204938	G	-	48204938	7	5	50	1	0	1	0	1	0	0	0	0	6516	1116	39	0	3999	0	GLTSCR1	19	48204938	Frame_Shift_Del	DEL	G	TCGA-DB-A75K-01A-11D-A32B-08	5413459	48204938	10924045	38	2191											
EPB41L1	2036	broad.mit.edu	37	20	34776386	34776386	+	Missense_Mutation	SNP	A	A	T			TCGA-DB-A75K-01A-11D-A32B-08	TCGA-DB-A75K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3788075-215e-4535-b4bd-cc40fdaf52aa	fed87034-a0a0-4c98-a951-f1a46983aba5	g.chr20:34776386A>T	ENST00000338074.2	+	9	1152	c.991A>T	c.(991-993)Agg>Tgg	p.R331W	EPB41L1_ENST00000373946.3_Missense_Mutation_p.R300W|EPB41L1_ENST00000373941.1_Missense_Mutation_p.R331W|EPB41L1_ENST00000441639.1_Missense_Mutation_p.R269W|EPB41L1_ENST00000373950.2_Missense_Mutation_p.R234W|EPB41L1_ENST00000202028.5_Missense_Mutation_p.R269W	NM_001258329.1|NM_012156.2	NP_001245258.1|NP_036288.2	Q9H4G0	E41L1_HUMAN	erythrocyte membrane protein band 4.1-like 1	331	FERM.				cortical actin cytoskeleton organization|synaptic transmission	cytoskeleton|cytosol|extrinsic to membrane|plasma membrane	actin binding|structural molecule activity			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37	Breast(12;0.0239)					CTCCTACAAGAGGAGTAACTT	0.537													15	30					0	0	1	0	0	T	34776386	A	T	34776386	3	4	50	1	0	0	0	0	1	0	0	0	5180	295	11	5	1021	5	EPB41L1	20	34776386	Missense_Mutation	SNP	A	TCGA-DB-A75K-01A-11D-A32B-08		34776386	28249134	39	2192											
GNAS	2778	broad.mit.edu	37	20	57415667	57415667	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A75K-01A-11D-A32B-08	TCGA-DB-A75K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3788075-215e-4535-b4bd-cc40fdaf52aa	fed87034-a0a0-4c98-a951-f1a46983aba5	g.chr20:57415667G>A	ENST00000313949.7	+	1	895	c.506G>A	c.(505-507)cGa>cAa	p.R169Q	GNAS-AS1_ENST00000598163.1_RNA|GNAS-AS1_ENST00000424094.2_RNA|GNAS_ENST00000371075.3_Missense_Mutation_p.R169Q|GNAS-AS1_ENST00000443966.1_RNA|GNAS_ENST00000371098.2_Missense_Mutation_p.R169Q			P63092	GNAS2_HUMAN	GNAS complex locus	0					activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity			adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			CTCAAGTTGCGAAGCCCCGAC	0.682			Mis		pituitary adenoma		"McCune-Albright syndrome; pseudohypoparathyroidism, type IA"			TSP Lung(22;0.16)			15	12					0	0	1	0	0	A	57415667	G	A	57415667	3	1	50	1	0	0	0	0	1	0	0	0	6552	1058	37	1	508	1	GNAS	20	57415667	Missense_Mutation	SNP	G	TCGA-DB-A75K-01A-11D-A32B-08	22639281	57415667	5609853	40	2193											
ARSD	414	broad.mit.edu	37	X	2827921	2827921	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A75K-01A-11D-A32B-08	TCGA-DB-A75K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3788075-215e-4535-b4bd-cc40fdaf52aa	fed87034-a0a0-4c98-a951-f1a46983aba5	g.chrX:2827921G>A	ENST00000381154.1	-	8	1310	c.1235C>T	c.(1234-1236)aCg>aTg	p.T412M		NM_001669.3	NP_001660.2	P51689	ARSD_HUMAN	arylsulfatase D	412						lysosome	arylsulfatase activity|metal ion binding			large_intestine(3)|lung(3)	6		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CATCAGGCTCGTGGGCTCTCC	0.642													18	33					0	0	1	0	0	A	2827921	G	A	2827921	3	1	50	1	0	0	0	0	1	0	0	0	988	1145	40	1	558	1	ARSD	23	2827921	Missense_Mutation	SNP	G	TCGA-DB-A75K-01A-11D-A32B-08		2827921	152442639	41	2194											
ARSH	347527	broad.mit.edu	37	X	2933251	2933251	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DB-A75K-01A-11D-A32B-08	TCGA-DB-A75K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3788075-215e-4535-b4bd-cc40fdaf52aa	fed87034-a0a0-4c98-a951-f1a46983aba5	g.chrX:2933251G>A	ENST00000381130.2	+	4	581	c.581G>A	c.(580-582)tGg>tAg	p.W194*		NM_001011719.1	NP_001011719.1	Q5FYA8	ARSH_HUMAN	arylsulfatase family, member H	194						integral to membrane	arylsulfatase activity|metal ion binding			breast(3)|endometrium(8)|kidney(2)|large_intestine(6)|lung(13)|skin(1)|stomach(1)	34		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				TCAGTGCCATGGAAGGTCATC	0.498													11	19					0	0	1	0	0	A	2933251	G	A	2933251	4	1	50	1	0	0	0	0	0	1	0	0	992	1357	47	2	595	2	ARSH	23	2933251	Nonsense_Mutation	SNP	G	TCGA-DB-A75K-01A-11D-A32B-08	105330	2933251	152337309	42	2195											
DMD	1756	broad.mit.edu	37	X	31241162	31241162	+	Splice_Site	SNP	A	A	T			TCGA-DB-A75K-01A-11D-A32B-08	TCGA-DB-A75K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3788075-215e-4535-b4bd-cc40fdaf52aa	fed87034-a0a0-4c98-a951-f1a46983aba5	g.chrX:31241162A>T	ENST00000357033.4	-	64	9568		c.e64+1		DMD_ENST00000361471.4_Splice_Site|DMD_ENST00000378677.2_Splice_Site|DMD_ENST00000378680.2_Splice_Site|DMD_ENST00000343523.2_Splice_Site|DMD_ENST00000541735.1_Splice_Site|DMD_ENST00000474231.1_Splice_Site|DMD_ENST00000378702.4_Splice_Site|DMD_ENST00000359836.1_Splice_Site|DMD_ENST00000378707.3_Splice_Site|DMD_ENST00000378723.3_Splice_Site	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin						muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				GCCAATACTTACAGCAAAGGG	0.408													41	57					0	0	1	0	0	T	31241162	A	T	31241162	5	4	50	1	0	0	0	0	0	0	1	0	4608	405	14	5	1848	5	DMD	23	31241162	Splice_Site	SNP	A	TCGA-DB-A75K-01A-11D-A32B-08	28307911	31241162	124029398	43	2196											
VSIG4	11326	broad.mit.edu	37	X	65247907	65247907	+	Missense_Mutation	SNP	T	T	C			TCGA-DB-A75K-01A-11D-A32B-08	TCGA-DB-A75K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3788075-215e-4535-b4bd-cc40fdaf52aa	fed87034-a0a0-4c98-a951-f1a46983aba5	g.chrX:65247907T>C	ENST00000455586.2	-	4	868	c.742A>G	c.(742-744)Aca>Gca	p.T248A	VSIG4_ENST00000412866.2_Missense_Mutation_p.T154A|VSIG4_ENST00000374737.4_Missense_Mutation_p.T248A	NM_001184830.1	NP_001171759.1	Q9Y279	VSIG4_HUMAN	V-set and immunoglobulin domain containing 4	248					complement activation, alternative pathway	integral to membrane	protein binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						AAGGGGTATGTCATGGTTGTA	0.458													26	54					0	0	1	0	0	C	65247907	T	C	65247907	3	2	50	1	0	0	0	0	1	0	0	0	17285	1667	58	3	481	3	VSIG4	23	65247907	Missense_Mutation	SNP	T	TCGA-DB-A75K-01A-11D-A32B-08	34006745	65247907	90022653	44	2197											
YIPF6	286451	broad.mit.edu	37	X	67751800	67751800	+	Missense_Mutation	SNP	T	T	A			TCGA-DB-A75K-01A-11D-A32B-08	TCGA-DB-A75K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3788075-215e-4535-b4bd-cc40fdaf52aa	fed87034-a0a0-4c98-a951-f1a46983aba5	g.chrX:67751800T>A	ENST00000462683.1	+	7	1414	c.670T>A	c.(670-672)Ttt>Att	p.F224I	YIPF6_ENST00000374622.2_Missense_Mutation_p.F181I	NM_173834.3	NP_776195.2	Q96EC8	YIPF6_HUMAN	Yip1 domain family, member 6	224						endoplasmic reticulum|integral to membrane				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|urinary_tract(1)	7						CCTGTTTTACTTTGTCATCAG	0.403													6	15					0	0	1	0	0	A	67751800	T	A	67751800	3	1	50	1	0	0	0	0	1	0	0	0	17542	1609	56	5	696	5	YIPF6	23	67751800	Missense_Mutation	SNP	T	TCGA-DB-A75K-01A-11D-A32B-08	2503893	67751800	87518760	45	2198											
TAF1	6872	broad.mit.edu	37	X	70607290	70607290	+	Silent	SNP	G	G	A			TCGA-DB-A75K-01A-11D-A32B-08	TCGA-DB-A75K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3788075-215e-4535-b4bd-cc40fdaf52aa	fed87034-a0a0-4c98-a951-f1a46983aba5	g.chrX:70607290G>A	ENST00000449580.1	+	15	2454	c.2403G>A	c.(2401-2403)acG>acA	p.T801T	TAF1_ENST00000276072.3_Silent_p.T822T|TAF1_ENST00000373790.4_Silent_p.T801T|TAF1_ENST00000423759.1_Silent_p.T822T			P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	801					G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity	p.T801T(1)		breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				GGGCCAATACGCATATTCGAG	0.493													31	56					0	0	1	0	0	A	70607290	G	A	70607290	2	1	50	1	0	0	0	0	0	0	0	1	15570	1074	38	1		1	TAF1	23	70607290	Silent	SNP	G	TCGA-DB-A75K-01A-11D-A32B-08	2855490	70607290	84663270	46	2199											
CYLC1	1538	broad.mit.edu	37	X	83126517	83126517	+	Missense_Mutation	SNP	A	A	G			TCGA-DB-A75K-01A-11D-A32B-08	TCGA-DB-A75K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3788075-215e-4535-b4bd-cc40fdaf52aa	fed87034-a0a0-4c98-a951-f1a46983aba5	g.chrX:83126517A>G	ENST00000329312.4	+	3	153	c.116A>G	c.(115-117)aAa>aGa	p.K39R		NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head cytoskeleton 1	39					cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						ACATTTCCCAAACCACTCCAG	0.303													24	41					0	0	1	0	0	G	83126517	A	G	83126517	3	3	50	1	0	0	0	0	1	0	0	0	4164	14	1	3	126	3	CYLC1	23	83126517	Missense_Mutation	SNP	A	TCGA-DB-A75K-01A-11D-A32B-08	12519227	83126517	72144043	47	2200											
ZIC3	7547	broad.mit.edu	37	X	136649636	136649636	+	Silent	SNP	C	C	T			TCGA-DB-A75K-01A-11D-A32B-08	TCGA-DB-A75K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3788075-215e-4535-b4bd-cc40fdaf52aa	fed87034-a0a0-4c98-a951-f1a46983aba5	g.chrX:136649636C>T	ENST00000287538.5	+	1	1336	c.786C>T	c.(784-786)agC>agT	p.S262S	ZIC3_ENST00000370606.3_Silent_p.S262S	NM_003413.3	NP_003404.1	O60481	ZIC3_HUMAN	Zic family member 3	262					cell differentiation|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|soft_tissue(2)|urinary_tract(1)	37	Acute lymphoblastic leukemia(192;0.000127)					CTCAGCTGAGCCGGCCCAAGA	0.632													39	44					0	0	1	0	0	T	136649636	C	T	136649636	2	4	50	1	0	0	0	0	0	0	0	1	17738	738	26	2		2	ZIC3	23	136649636	Silent	SNP	C	TCGA-DB-A75K-01A-11D-A32B-08	53523119	136649636	18620924	48	2201											
SLITRK4	139065	broad.mit.edu	37	X	142716809	142716809	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A75K-01A-11D-A32B-08	TCGA-DB-A75K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3788075-215e-4535-b4bd-cc40fdaf52aa	fed87034-a0a0-4c98-a951-f1a46983aba5	g.chrX:142716809C>T	ENST00000381779.4	-	2	2341	c.2116G>A	c.(2116-2118)Gaa>Aaa	p.E706K	SLITRK4_ENST00000338017.4_Missense_Mutation_p.E706K|SLITRK4_ENST00000356928.1_Missense_Mutation_p.E706K	NM_001184749.2|NM_001184750.1|NM_173078.4	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	706						integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					AACCCAGTTTCTGACTCTTTC	0.408													74	113					0	0	1	0	0	T	142716809	C	T	142716809	3	4	50	1	0	0	0	0	1	0	0	0	14799	922	32	2	401	2	SLITRK4	23	142716809	Missense_Mutation	SNP	C	TCGA-DB-A75K-01A-11D-A32B-08	6067173	142716809	12553751	49	2202											
DNASE1L1	1774	broad.mit.edu	37	X	153631307	153631307	+	Silent	SNP	C	C	T			TCGA-DB-A75K-01A-11D-A32B-08	TCGA-DB-A75K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3788075-215e-4535-b4bd-cc40fdaf52aa	fed87034-a0a0-4c98-a951-f1a46983aba5	g.chrX:153631307C>T	ENST00000369809.1	-	9	1379	c.750G>A	c.(748-750)acG>acA	p.T250T	DNASE1L1_ENST00000393638.1_Silent_p.T250T	NM_001009932.1	NP_001009932.1	P49184	DNSL1_HUMAN	deoxyribonuclease I-like 1	250					DNA catabolic process	endoplasmic reticulum	DNA binding|endodeoxyribonuclease activity, producing 5'-phosphomonoesters			lung(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GCTGGAAGCTCGTGGGGAAGT	0.682													29	31					0	0	1	0	0	T	153631307	C	T	153631307	2	4	50	1	0	0	0	0	0	0	0	1	4688	871	31	1		1	DNASE1L1	23	153631307	Silent	SNP	C	TCGA-DB-A75K-01A-11D-A32B-08	10914498	153631307	1639253	50	2203											
CYP4A22	284541	broad.mit.edu	37	1	47603305	47603305	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DB-A75L-01A-11D-A32B-08	TCGA-DB-A75L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c2e77c-ba13-42a3-95f7-9c6e12879cef	b820b9a4-9489-4f19-83b9-23b65828d5d2	g.chr1:47603305C>T	ENST00000371891.3	+	1	179	c.148C>T	c.(148-150)Cag>Tag	p.Q50*	CYP4A22_ENST00000294337.3_Nonsense_Mutation_p.Q50*|CYP4A22-AS1_ENST00000444042.2_lincRNA|CYP4A22_ENST00000371890.3_Nonsense_Mutation_p.Q50*|CYP4A22_ENST00000485117.1_3'UTR	NM_001010969.2	NP_001010969.2	Q5TCH4	CP4AM_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 22	50						endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						AGCCCTCCAGCAGTTCCCGTG	0.617													9	48					0	0	1	0	0	T	47603305	C	T	47603305	4	4	51	1	0	0	0	0	0	1	0	0	4207	711	25	2	150	2	CYP4A22	1	47603305	Nonsense_Mutation	SNP	C	TCGA-DB-A75L-01A-11D-A32B-08		47603305	201647316	1	2204											
KIAA0907	22889	broad.mit.edu	37	1	155899562	155899562	+	Missense_Mutation	SNP	T	T	C			TCGA-DB-A75L-01A-11D-A32B-08	TCGA-DB-A75L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c2e77c-ba13-42a3-95f7-9c6e12879cef	b820b9a4-9489-4f19-83b9-23b65828d5d2	g.chr1:155899562T>C	ENST00000368320.3	-	3	350	c.325A>G	c.(325-327)Att>Gtt	p.I109V	KIAA0907_ENST00000482337.1_5'UTR|KIAA0907_ENST00000368321.3_Missense_Mutation_p.I109V|KIAA0907_ENST00000368319.3_Missense_Mutation_p.I109V			Q7Z7F0	K0907_HUMAN	KIAA0907	109										breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)			ACATCATTAATTTCTACTTCA	0.458													3	55					0	0	1	0	0	C	155899562	T	C	155899562	3	2	51	1	0	0	0	0	1	0	0	0	8241	1493	52	3	1567	3	KIAA0907	1	155899562	Missense_Mutation	SNP	T	TCGA-DB-A75L-01A-11D-A32B-08	108296257	155899562	93351059	2	2205											
C2orf16	84226	broad.mit.edu	37	2	27799757	27799757	+	Silent	SNP	G	G	A			TCGA-DB-A75L-01A-11D-A32B-08	TCGA-DB-A75L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c2e77c-ba13-42a3-95f7-9c6e12879cef	b820b9a4-9489-4f19-83b9-23b65828d5d2	g.chr2:27799757G>A	ENST00000408964.2	+	1	369	c.318G>A	c.(316-318)gaG>gaA	p.E106E		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	106										breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					AATATGGGGAGCAAACTCCAA	0.413													31	27					0	0	1	0	0	A	27799757	G	A	27799757	2	1	51	1	0	0	0	0	0	0	0	1	2171	962	34	2		2	C2orf16	2	27799757	Silent	SNP	G	TCGA-DB-A75L-01A-11D-A32B-08		27799757	215399616	3	2206											
DYNC2LI1	51626	broad.mit.edu	37	2	44031782	44031782	+	Splice_Site	SNP	A	A	T			TCGA-DB-A75L-01A-11D-A32B-08	TCGA-DB-A75L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c2e77c-ba13-42a3-95f7-9c6e12879cef	b820b9a4-9489-4f19-83b9-23b65828d5d2	g.chr2:44031782A>T	ENST00000260605.8	+	11	904	c.804A>T	c.(802-804)ggA>ggT	p.G268G	DYNC2LI1_ENST00000605786.1_Splice_Site_p.G269G|DYNC2LI1_ENST00000443170.3_Splice_Site_p.G142G	NM_001193464.1|NM_016008.3	NP_001180393.1|NP_057092.2	Q8TCX1	DC2L1_HUMAN	dynein, cytoplasmic 2, light intermediate chain 1	268						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)				CTATTTTAGGATCTCCTCCTG	0.368													6	48					0	0	1	0	0	T	44031782	A	T	44031782	5	4	51	1	0	0	0	0	0	0	1	0	4873	347	12	4	945	4	DYNC2LI1	2	44031782	Splice_Site	SNP	A	TCGA-DB-A75L-01A-11D-A32B-08	16232025	44031782	199167591	4	2207											
TSPYL6	388951	broad.mit.edu	37	2	54482297	54482297	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A75L-01A-11D-A32B-08	TCGA-DB-A75L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c2e77c-ba13-42a3-95f7-9c6e12879cef	b820b9a4-9489-4f19-83b9-23b65828d5d2	g.chr2:54482297C>T	ENST00000317802.7	-	1	1112	c.992G>A	c.(991-993)cGc>cAc	p.R331H	ACYP2_ENST00000607452.1_Intron|ACYP2_ENST00000606865.1_Intron|ACYP2_ENST00000394666.3_Intron|ACYP2_ENST00000303536.4_Intron	NM_001003937.2	NP_001003937.2	Q8N831	TSYL6_HUMAN	TSPY-like 6	331					nucleosome assembly	nucleus				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(1)|ovary(1)|skin(1)|stomach(2)	20						ATGGCCCCGGCGCCACATGAT	0.493													24	34					0	0	1	0	0	T	54482297	C	T	54482297	3	4	51	1	0	0	0	0	1	0	0	0	16724	768	27	1	244	1	TSPYL6	2	54482297	Missense_Mutation	SNP	C	TCGA-DB-A75L-01A-11D-A32B-08	10450515	54482297	188717076	5	2208											
SFTPB	6439	broad.mit.edu	37	2	85892817	85892817	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A75L-01A-11D-A32B-08	TCGA-DB-A75L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c2e77c-ba13-42a3-95f7-9c6e12879cef	b820b9a4-9489-4f19-83b9-23b65828d5d2	g.chr2:85892817C>T	ENST00000393822.3	-	6	629	c.530G>A	c.(529-531)cGg>cAg	p.R177Q	SFTPB_ENST00000409383.1_Missense_Mutation_p.R177Q|SFTPB_ENST00000342375.3_Missense_Mutation_p.R165Q|SFTPB_ENST00000519937.2_Missense_Mutation_p.R165Q			P07988	PSPB_HUMAN	surfactant protein B	165					organ morphogenesis|respiratory gaseous exchange|sphingolipid metabolic process	extracellular space|lysosome		p.R165Q(1)		central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(3)	16						CAGAGGGTCCCGCAGAGGTTT	0.667													8	39					0	0	1	0	0	T	85892817	C	T	85892817	3	4	51	1	0	0	0	0	1	0	0	0	14245	652	23	1	675	1	SFTPB	2	85892817	Missense_Mutation	SNP	C	TCGA-DB-A75L-01A-11D-A32B-08	31410520	85892817	157306556	6	2209											
RBMS1	5937	broad.mit.edu	37	2	161135075	161135075	+	Missense_Mutation	SNP	A	A	G			TCGA-DB-A75L-01A-11D-A32B-08	TCGA-DB-A75L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c2e77c-ba13-42a3-95f7-9c6e12879cef	b820b9a4-9489-4f19-83b9-23b65828d5d2	g.chr2:161135075A>G	ENST00000348849.3	-	11	1476	c.1046T>C	c.(1045-1047)cTa>cCa	p.L349P	RBMS1_ENST00000409289.2_Missense_Mutation_p.L313P|RBMS1_ENST00000392753.3_Missense_Mutation_p.L362P|RBMS1_ENST00000474820.1_5'UTR|RBMS1_ENST00000409972.1_Missense_Mutation_p.L313P|RBMS1_ENST00000409075.1_Missense_Mutation_p.L313P	NM_002897.4|NM_016836.3	NP_002888.1|NP_058520.1	P29558	RBMS1_HUMAN	RNA binding motif, single stranded interacting protein 1	349					DNA replication|RNA processing	nucleus	double-stranded DNA binding|nucleotide binding|protein binding|RNA binding|single-stranded DNA binding		PLA2R1/RBMS1(2)								GGTGCTGCCTAGTGACAGATG	0.498											OREG0015036	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	22					0	0	1	0	0	G	161135075	A	G	161135075	3	3	51	1	0	0	0	0	1	0	0	0	13200	420	15	3	186	3	RBMS1	2	161135075	Missense_Mutation	SNP	A	TCGA-DB-A75L-01A-11D-A32B-08	75242258	161135075	82064298	7	2210											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-DB-A75L-01A-11D-A32B-08	TCGA-DB-A75L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c2e77c-ba13-42a3-95f7-9c6e12879cef	b820b9a4-9489-4f19-83b9-23b65828d5d2	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	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								22	38					0	0	1	0	0	T	209113112	C	T	209113112	3	4	51	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-DB-A75L-01A-11D-A32B-08	47978037	209113112	34086261	8	2211											
DHX36	170506	broad.mit.edu	37	3	154032922	154032922	+	Silent	SNP	T	T	C			TCGA-DB-A75L-01A-11D-A32B-08	TCGA-DB-A75L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c2e77c-ba13-42a3-95f7-9c6e12879cef	b820b9a4-9489-4f19-83b9-23b65828d5d2	g.chr3:154032922T>C	ENST00000496811.1	-	3	596	c.516A>G	c.(514-516)caA>caG	p.Q172Q	DHX36_ENST00000544526.1_Silent_p.Q172Q|DHX36_ENST00000308361.6_Silent_p.Q172Q|DHX36_ENST00000329463.5_Silent_p.Q172Q	NM_020865.2	NP_065916.2	Q9H2U1	DHX36_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 36	172						cytoplasm|nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	35			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			GTTCATTTTCTTGCAAGAGAT	0.308													28	46					0	0	1	0	0	C	154032922	T	C	154032922	2	2	51	1	0	0	0	0	0	0	0	1	4537	1606	56	3		3	DHX36	3	154032922	Silent	SNP	T	TCGA-DB-A75L-01A-11D-A32B-08		154032922	43989508	9	2212											
EPHA5	2044	broad.mit.edu	37	4	66231755	66231755	+	Missense_Mutation	SNP	T	T	C			TCGA-DB-A75L-01A-11D-A32B-08	TCGA-DB-A75L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c2e77c-ba13-42a3-95f7-9c6e12879cef	b820b9a4-9489-4f19-83b9-23b65828d5d2	g.chr4:66231755T>C	ENST00000273854.3	-	11	2545	c.1945A>G	c.(1945-1947)Act>Gct	p.T649A	EPHA5_ENST00000511294.1_Missense_Mutation_p.T650A|EPHA5_ENST00000432638.2_Missense_Mutation_p.T486A|EPHA5_ENST00000354839.4_Missense_Mutation_p.T627A	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	649					cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						TCAATGTAAGTTCTTACTCCT	0.353										TSP Lung(17;0.13)			9	73					0	0	1	0	0	C	66231755	T	C	66231755	3	2	51	1	0	0	0	0	1	0	0	0	5198	1725	60	3	1200	3	EPHA5	4	66231755	Missense_Mutation	SNP	T	TCGA-DB-A75L-01A-11D-A32B-08		66231755	124922521	10	2213											
TLL1	7092	broad.mit.edu	37	4	166935596	166935596	+	Missense_Mutation	SNP	T	T	C			TCGA-DB-A75L-01A-11D-A32B-08	TCGA-DB-A75L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c2e77c-ba13-42a3-95f7-9c6e12879cef	b820b9a4-9489-4f19-83b9-23b65828d5d2	g.chr4:166935596T>C	ENST00000061240.2	+	8	1573	c.926T>C	c.(925-927)tTt>tCt	p.F309S	TLL1_ENST00000507499.1_Missense_Mutation_p.F309S|TLL1_ENST00000513213.1_Missense_Mutation_p.F309S	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	309	Metalloprotease (By similarity).				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		AGGGGGATGTTTCTGGATACC	0.418													41	214					0	0	1	0	0	C	166935596	T	C	166935596	3	2	51	1	0	0	0	0	1	0	0	0	16005	1841	64	3	956	3	TLL1	4	166935596	Missense_Mutation	SNP	T	TCGA-DB-A75L-01A-11D-A32B-08	100703841	166935596	24218680	11	2214											
AHRR	57491	broad.mit.edu	37	5	353938	353938	+	Silent	SNP	G	G	A	rs150312721	by1000genomes	TCGA-DB-A75L-01A-11D-A32B-08	TCGA-DB-A75L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c2e77c-ba13-42a3-95f7-9c6e12879cef	b820b9a4-9489-4f19-83b9-23b65828d5d2	g.chr5:353938G>A	ENST00000316418.5	+	3	212	c.168G>A	c.(166-168)ccG>ccA	p.P56P	AHRR_ENST00000512529.1_Intron|AHRR_ENST00000505113.1_Silent_p.P56P|AHRR_ENST00000515206.1_Silent_p.P52P	NM_020731.4	NP_065782.2	A9YTQ3	AHRR_HUMAN	aryl-hydrocarbon receptor repressor	56	Helix-loop-helix motif.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1)	20			Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)			GCCTGCTGCCGTTCCCGCCTG	0.627													18	30					0	0	1	0	0	A	353938	G	A	353938	2	1	51	1	0	0	0	0	0	0	0	1	414	1132	40	1		1	AHRR	5	353938	Silent	SNP	G	TCGA-DB-A75L-01A-11D-A32B-08		353938	180561322	12	2215											
PCYOX1L	78991	broad.mit.edu	37	5	148747904	148747904	+	Missense_Mutation	SNP	C	C	G			TCGA-DB-A75L-01A-11D-A32B-08	TCGA-DB-A75L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c2e77c-ba13-42a3-95f7-9c6e12879cef	b820b9a4-9489-4f19-83b9-23b65828d5d2	g.chr5:148747904C>G	ENST00000514349.1	+	5	1481	c.902C>G	c.(901-903)gCa>gGa	p.A301G	PCYOX1L_ENST00000274569.4_Missense_Mutation_p.A391G			Q8NBM8	PCYXL_HUMAN	prenylcysteine oxidase 1 like	391					prenylcysteine catabolic process	extracellular region	oxidoreductase activity, acting on a sulfur group of donors, oxygen as acceptor			breast(2)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCCAGGAGGCAGCTGTTTGG	0.567											OREG0016912	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	49	79					0	0	1	0	0	G	148747904	C	G	148747904	3	3	51	1	0	0	0	0	1	0	0	0	11656	710	25	5	1194	5	PCYOX1L	5	148747904	Missense_Mutation	SNP	C	TCGA-DB-A75L-01A-11D-A32B-08	148393966	148747904	32167356	13	2216											
TNXB	7148	broad.mit.edu	37	6	32037587	32037587	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A75L-01A-11D-A32B-08	TCGA-DB-A75L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c2e77c-ba13-42a3-95f7-9c6e12879cef	b820b9a4-9489-4f19-83b9-23b65828d5d2	g.chr6:32037587C>T	ENST00000375244.3	-	15	5531	c.5330G>A	c.(5329-5331)cGt>cAt	p.R1777H	TNXB_ENST00000375247.2_Missense_Mutation_p.R1777H			P22105	TENX_HUMAN	tenascin XB	1859	Fibronectin type-III 10.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	p.R1864H(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CTCCCCCAGACGGGGTTTTGG	0.582													5	15					0	0	1	0	0	T	32037587	C	T	32037587	3	4	51	1	0	0	0	0	1	0	0	0	16406	536	19	1	9503	1	TNXB	6	32037587	Missense_Mutation	SNP	C	TCGA-DB-A75L-01A-11D-A32B-08		32037587	139077480	14	2217											
GRIK2	2898	broad.mit.edu	37	6	102074501	102074501	+	Missense_Mutation	SNP	A	A	T			TCGA-DB-A75L-01A-11D-A32B-08	TCGA-DB-A75L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c2e77c-ba13-42a3-95f7-9c6e12879cef	b820b9a4-9489-4f19-83b9-23b65828d5d2	g.chr6:102074501A>T	ENST00000369138.1	+	3	1020	c.530A>T	c.(529-531)gAt>gTt	p.D177V	GRIK2_ENST00000369137.3_Missense_Mutation_p.D177V|GRIK2_ENST00000421544.1_Missense_Mutation_p.D177V|GRIK2_ENST00000413795.1_Missense_Mutation_p.D177V|GRIK2_ENST00000318991.6_Missense_Mutation_p.D177V|GRIK2_ENST00000358361.3_Missense_Mutation_p.D177V|GRIK2_ENST00000369134.4_Missense_Mutation_p.D128V	NM_001166247.1	NP_001159719.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	177					glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	L-Glutamic Acid(DB00142)	GTTGTGTATGATGACAGCACT	0.398													25	38					0	0	1	0	0	T	102074501	A	T	102074501	3	4	51	1	0	0	0	0	1	0	0	0	6815	333	12	4	540	4	GRIK2	6	102074501	Missense_Mutation	SNP	A	TCGA-DB-A75L-01A-11D-A32B-08	70036914	102074501	69040566	15	2218											
ZAN	7455	broad.mit.edu	37	7	100364680	100364680	+	RNA	SNP	G	G	A			TCGA-DB-A75L-01A-11D-A32B-08	TCGA-DB-A75L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c2e77c-ba13-42a3-95f7-9c6e12879cef	b820b9a4-9489-4f19-83b9-23b65828d5d2	g.chr7:100364680G>A	ENST00000542585.1	+	0	4808				ZAN_ENST00000348028.3_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000443370.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			CCTGACCTTCGATGGCGCCTT	0.597													4	81					0	0	1	0	0	A	100364680	G	A	100364680	1	1	51	0	1	0	0	0	0	0	0	0	17573	1058	37	1		1	ZAN	7	100364680	RNA	SNP	G	TCGA-DB-A75L-01A-11D-A32B-08		100364680	58773983	16	2219											
RGS3	5998	broad.mit.edu	37	9	116357880	116357880	+	Splice_Site	SNP	C	C	T			TCGA-DB-A75L-01A-11D-A32B-08	TCGA-DB-A75L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c2e77c-ba13-42a3-95f7-9c6e12879cef	b820b9a4-9489-4f19-83b9-23b65828d5d2	g.chr9:116357880C>T	ENST00000374140.2	+	25	3455	c.3246C>T	c.(3244-3246)taC>taT	p.Y1082Y	RGS3_ENST00000462403.1_Splice_Site_p.Y195Y|RGS3_ENST00000350696.5_Splice_Site_p.Y1082Y|RGS3_ENST00000342620.5_Splice_Site_p.Y52Y|RGS3_ENST00000462143.1_Splice_Site_p.Y403Y|RGS3_ENST00000374134.3_Splice_Site_p.Y403Y|RGS3_ENST00000343817.5_Splice_Site_p.Y801Y|RGS3_ENST00000394646.3_Splice_Site_p.Y475Y	NM_001282923.1|NM_144488.4	NP_001269852.1|NP_652759.3	P49796	RGS3_HUMAN	regulator of G-protein signaling 3	1082	RGS.				inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	cytosol|nucleus|plasma membrane	GTPase activator activity|signal transducer activity			cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						TCCTCACAGACGGGTTAGCAG	0.522													3	69					0	0	1	0	0	T	116357880	C	T	116357880	5	4	51	1	0	0	0	0	0	0	1	0	13356	550	19	1	4016	1	RGS3	9	116357880	Splice_Site	SNP	C	TCGA-DB-A75L-01A-11D-A32B-08		116357880	24855551	17	2220											
MMP10	4319	broad.mit.edu	37	11	102651240	102651240	+	Missense_Mutation	SNP	T	T	C			TCGA-DB-A75L-01A-11D-A32B-08	TCGA-DB-A75L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c2e77c-ba13-42a3-95f7-9c6e12879cef	b820b9a4-9489-4f19-83b9-23b65828d5d2	g.chr11:102651240T>C	ENST00000279441.4	-	1	119	c.83A>G	c.(82-84)gAc>gGc	p.D28G		NM_002425.2	NP_002416.1	P09238	MMP10_HUMAN	matrix metallopeptidase 10 (stromelysin 2)	28					collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|liver(2)|lung(6)	22	all_epithelial(12;0.00961)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0303)|Lung(13;0.0828)|all cancers(10;0.116)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0145)		CTTGTTGGAGTCCTCCTCTTT	0.488													7	31					0	0	1	0	0	C	102651240	T	C	102651240	3	2	51	1	0	0	0	0	1	0	0	0	9697	1667	58	3	1387	3	MMP10	11	102651240	Missense_Mutation	SNP	T	TCGA-DB-A75L-01A-11D-A32B-08		102651240	32355276	18	2221											
PPP2R1B	5519	broad.mit.edu	37	11	111613388	111613388	+	Splice_Site	SNP	G	G	A			TCGA-DB-A75L-01A-11D-A32B-08	TCGA-DB-A75L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c2e77c-ba13-42a3-95f7-9c6e12879cef	b820b9a4-9489-4f19-83b9-23b65828d5d2	g.chr11:111613388G>A	ENST00000527614.1	-	13	1621	c.1556C>T	c.(1555-1557)gCa>gTa	p.A519V	PPP2R1B_ENST00000426998.2_Splice_Site_p.A455V|PPP2R1B_ENST00000427203.2_Splice_Site_p.A358V|PPP2R1B_ENST00000393055.2_Splice_Site_p.A392V|PPP2R1B_ENST00000341980.6_Splice_Site_p.A474V|PPP2R1B_ENST00000311129.5_Splice_Site_p.A519V	NM_001177562.1|NM_002716.4	NP_001171033.1|NP_002707.3	P30154	2AAB_HUMAN	protein phosphatase 2, regulatory subunit A, beta	519							protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|liver(1)|lung(10)|prostate(1)|urinary_tract(2)	22		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|Epithelial(105;2.36e-06)|all cancers(92;3.78e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0761)		CTCAGACAGTGCCTAGAAAAA	0.323													13	31					0	0	1	0	0	A	111613388	G	A	111613388	5	1	51	1	0	0	0	0	0	0	1	0	12432	1333	46	2	484	2	PPP2R1B	11	111613388	Splice_Site	SNP	G	TCGA-DB-A75L-01A-11D-A32B-08	8962148	111613388	23393128	19	2222											
NRGN	4900	broad.mit.edu	37	11	124615509	124615509	+	Silent	SNP	G	G	A			TCGA-DB-A75L-01A-11D-A32B-08	TCGA-DB-A75L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c2e77c-ba13-42a3-95f7-9c6e12879cef	b820b9a4-9489-4f19-83b9-23b65828d5d2	g.chr11:124615509G>A	ENST00000284292.6	+	2	365	c.126G>A	c.(124-126)gcG>gcA	p.A42A	RP11-677M14.2_ENST00000531241.1_RNA|NRGN_ENST00000412681.2_Silent_p.A42A	NM_001126181.1|NM_006176.2	NP_001119653.1|NP_006167.1	Q92686	NEUG_HUMAN	neurogranin (protein kinase C substrate, RC3)		IQ.				nervous system development|signal transduction		calmodulin binding					all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0214)		GCCACATGGCGCGGAAGAAGA	0.726													10	18					0	0	1	0	0	A	124615509	G	A	124615509	2	1	51	1	0	0	0	0	0	0	0	1	10699	1074	38	1		1	NRGN	11	124615509	Silent	SNP	G	TCGA-DB-A75L-01A-11D-A32B-08	13002121	124615509	10391007	20	2223											
KCNJ5	3762	broad.mit.edu	37	11	128781260	128781260	+	Missense_Mutation	SNP	A	A	G			TCGA-DB-A75L-01A-11D-A32B-08	TCGA-DB-A75L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c2e77c-ba13-42a3-95f7-9c6e12879cef	b820b9a4-9489-4f19-83b9-23b65828d5d2	g.chr11:128781260A>G	ENST00000529694.1	+	2	468	c.92A>G	c.(91-93)gAt>gGt	p.D31G	KCNJ5_ENST00000533599.1_Missense_Mutation_p.D31G|KCNJ5_ENST00000338350.4_Missense_Mutation_p.D31G	NM_000890.3	NP_000881.3	P48544	IRK5_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 5	31					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			NS(1)|breast(1)|endometrium(4)|large_intestine(4)|liver(2)|lung(9)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_hematologic(175;0.0641)	Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215)	Glibenclamide(DB01016)	CAGGCCCGCGATTATGTCCCC	0.577													12	81					0	0	1	0	0	G	128781260	A	G	128781260	3	3	51	1	0	0	0	0	1	0	0	0	8098	333	12	3	94	3	KCNJ5	11	128781260	Missense_Mutation	SNP	A	TCGA-DB-A75L-01A-11D-A32B-08	4165751	128781260	6225256	21	2224											
APOBEC1	339	broad.mit.edu	37	12	7803711	7803711	+	Missense_Mutation	SNP	C	C	G			TCGA-DB-A75L-01A-11D-A32B-08	TCGA-DB-A75L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c2e77c-ba13-42a3-95f7-9c6e12879cef	b820b9a4-9489-4f19-83b9-23b65828d5d2	g.chr12:7803711C>G	ENST00000229304.4	-	4	489	c.469G>C	c.(469-471)Gtc>Ctc	p.V157L		NM_001644.3	NP_001635.2	P41238	ABEC1_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide 1	157					cytidine to uridine editing|DNA demethylation|lipid metabolic process|mRNA modification|mRNA processing|negative regulation of methylation-dependent chromatin silencing	nucleoplasm	cytidine deaminase activity|RNA binding|zinc ion binding			kidney(2)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|stomach(1)	17						GGGTAGTTGACAAAATTCCTC	0.438													3	76					0	0	1	0	0	G	7803711	C	G	7803711	3	3	51	1	0	0	0	0	1	0	0	0	784	478	17	5	249	5	APOBEC1	12	7803711	Missense_Mutation	SNP	C	TCGA-DB-A75L-01A-11D-A32B-08		7803711	126048184	22	2225											
SLCO1B3	28234	broad.mit.edu	37	12	21033840	21033840	+	Silent	SNP	A	A	C			TCGA-DB-A75L-01A-11D-A32B-08	TCGA-DB-A75L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c2e77c-ba13-42a3-95f7-9c6e12879cef	b820b9a4-9489-4f19-83b9-23b65828d5d2	g.chr12:21033840A>C	ENST00000381545.3	+	12	1602	c.1383A>C	c.(1381-1383)tcA>tcC	p.S461S	SLCO1B3_ENST00000553473.1_Silent_p.S461S|LST3_ENST00000540229.1_Silent_p.S461S|SLCO1B7_ENST00000554957.1_Intron|LST3_ENST00000381541.3_Intron|SLCO1B3_ENST00000261196.2_Silent_p.S461S	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family, member 1B3	461	Kazal-like.				bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)					ATTGCAACTCAGAGTGCAATT	0.373													13	130					0	0	1	0	0	C	21033840	A	C	21033840	2	2	51	1	0	0	0	0	0	0	0	1	14779	175	7	5		5	SLCO1B3	12	21033840	Silent	SNP	A	TCGA-DB-A75L-01A-11D-A32B-08	13230129	21033840	112818055	23	2226											
KIF5A	3798	broad.mit.edu	37	12	57976954	57976954	+	Missense_Mutation	SNP	G	G	T			TCGA-DB-A75L-01A-11D-A32B-08	TCGA-DB-A75L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c2e77c-ba13-42a3-95f7-9c6e12879cef	b820b9a4-9489-4f19-83b9-23b65828d5d2	g.chr12:57976954G>T	ENST00000455537.2	+	28	3365	c.3091G>T	c.(3091-3093)Gcc>Tcc	p.A1031S	KIF5A_ENST00000286452.5_Missense_Mutation_p.A942S	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN	kinesin family member 5A	1031	Globular.				blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						AGAGACAGCAGCCAGCTAATC	0.582											OREG0021947	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	17					1	1	1	1	0	T	57976954	G	T	57976954	3	4	51	1	0	0	0	0	1	0	0	0	8347	971	34	4	3201	4	KIF5A	12	57976954	Missense_Mutation	SNP	G	TCGA-DB-A75L-01A-11D-A32B-08	36943114	57976954	75874941	24	2227											
TMTC2	160335	broad.mit.edu	37	12	83251282	83251282	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A75L-01A-11D-A32B-08	TCGA-DB-A75L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c2e77c-ba13-42a3-95f7-9c6e12879cef	b820b9a4-9489-4f19-83b9-23b65828d5d2	g.chr12:83251282C>T	ENST00000549919.1	+	3	2364	c.559C>T	c.(559-561)Ctc>Ttc	p.L187F	TMTC2_ENST00000321196.3_Missense_Mutation_p.L193F|TMTC2_ENST00000548305.1_Missense_Mutation_p.L193F			Q8N394	TMTC2_HUMAN	transmembrane and tetratricopeptide repeat containing 2	193						endoplasmic reticulum|integral to membrane	binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1)	39						AGTGACTGTTCTCGCAGTTTC	0.458													32	43					0	0	1	0	0	T	83251282	C	T	83251282	3	4	51	1	0	0	0	0	1	0	0	0	16321	913	32	2	583	2	TMTC2	12	83251282	Missense_Mutation	SNP	C	TCGA-DB-A75L-01A-11D-A32B-08	25274328	83251282	50600613	25	2228											
OR4M1	441670	broad.mit.edu	37	14	20248553	20248553	+	Silent	SNP	A	A	G			TCGA-DB-A75L-01A-11D-A32B-08	TCGA-DB-A75L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c2e77c-ba13-42a3-95f7-9c6e12879cef	b820b9a4-9489-4f19-83b9-23b65828d5d2	g.chr14:20248553A>G	ENST00000315957.4	+	1	153	c.72A>G	c.(70-72)caA>caG	p.Q24Q		NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M, member 1	24					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GGGAGGTCCAACTAGTCCTAT	0.383													25	200					0	0	1	0	0	G	20248553	A	G	20248553	2	3	51	1	0	0	0	0	0	0	0	1	11123	40	2	3		3	OR4M1	14	20248553	Silent	SNP	A	TCGA-DB-A75L-01A-11D-A32B-08		20248553	87100987	26	2229											
SYNE2	23224	broad.mit.edu	37	14	64548243	64548243	+	Missense_Mutation	SNP	A	A	G			TCGA-DB-A75L-01A-11D-A32B-08	TCGA-DB-A75L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c2e77c-ba13-42a3-95f7-9c6e12879cef	b820b9a4-9489-4f19-83b9-23b65828d5d2	g.chr14:64548243A>G	ENST00000357395.3	+	57	11659	c.515A>G	c.(514-516)aAt>aGt	p.N172S	SYNE2_ENST00000394768.2_Missense_Mutation_p.N172S|SYNE2_ENST00000344113.4_Missense_Mutation_p.N3810S|SYNE2_ENST00000554584.1_Missense_Mutation_p.N3843S|SYNE2_ENST00000555002.1_Missense_Mutation_p.N444S|SYNE2_ENST00000358025.3_Missense_Mutation_p.N3810S			Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	3810	Actin-binding.				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TTGCTGGCCAATCCTGCTGAC	0.463													28	35					0	0	1	0	0	G	64548243	A	G	64548243	3	3	51	1	0	0	0	0	1	0	0	0	15503	101	4	3	11651	3	SYNE2	14	64548243	Missense_Mutation	SNP	A	TCGA-DB-A75L-01A-11D-A32B-08	44299690	64548243	42801297	27	2230											
ARG2	384	broad.mit.edu	37	14	68112389	68112389	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A75L-01A-11D-A32B-08	TCGA-DB-A75L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c2e77c-ba13-42a3-95f7-9c6e12879cef	b820b9a4-9489-4f19-83b9-23b65828d5d2	g.chr14:68112389C>T	ENST00000261783.3	+	4	572	c.392C>T	c.(391-393)gCc>gTc	p.A131V	ARG2_ENST00000556491.1_Intron	NM_001172.3	NP_001163.1	P78540	ARGI2_HUMAN	arginase 2	131					arginine metabolic process|nitric oxide biosynthetic process|urea cycle	mitochondrial matrix	arginase activity|metal ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|ovary(1)|prostate(1)	11				all cancers(60;0.000582)|OV - Ovarian serous cystadenocarcinoma(108;0.00392)|BRCA - Breast invasive adenocarcinoma(234;0.00928)	L-Arginine(DB00125)|L-Ornithine(DB00129)	AGTGGCCATGCCCGACACTGC	0.507													3	39					0	0	1	0	0	T	68112389	C	T	68112389	3	4	51	1	0	0	0	0	1	0	0	0	855	739	26	2	406	2	ARG2	14	68112389	Missense_Mutation	SNP	C	TCGA-DB-A75L-01A-11D-A32B-08	3564146	68112389	39237151	28	2231											
KIAA0101	9768	broad.mit.edu	37	15	64673229	64673229	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A75L-01A-11D-A32B-08	TCGA-DB-A75L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c2e77c-ba13-42a3-95f7-9c6e12879cef	b820b9a4-9489-4f19-83b9-23b65828d5d2	g.chr15:64673229C>T	ENST00000300035.4	-	2	193	c.55G>A	c.(55-57)Gct>Act	p.A19T	KIAA0101_ENST00000558008.1_Missense_Mutation_p.A19T|KIAA0101_ENST00000380258.2_Missense_Mutation_p.A19T|KIAA0101_ENST00000559519.1_Intron	NM_014736.4	NP_055551.1	Q15004	PAF_HUMAN	KIAA0101	19						mitochondrion|nucleus				central_nervous_system(1)|lung(1)|upper_aerodigestive_tract(1)	3						GGGGCTCGAGCAGCCACCACT	0.557													3	30					0	0	1	0	0	T	64673229	C	T	64673229	3	4	51	1	0	0	0	0	1	0	0	0	8197	710	25	2	317	2	KIAA0101	15	64673229	Missense_Mutation	SNP	C	TCGA-DB-A75L-01A-11D-A32B-08		64673229	37858163	29	2232											
GDE1	51573	broad.mit.edu	37	16	19516377	19516377	+	Missense_Mutation	SNP	G	G	C			TCGA-DB-A75L-01A-11D-A32B-08	TCGA-DB-A75L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c2e77c-ba13-42a3-95f7-9c6e12879cef	b820b9a4-9489-4f19-83b9-23b65828d5d2	g.chr16:19516377G>C	ENST00000353258.3	-	5	854	c.674C>G	c.(673-675)aCt>aGt	p.T225S		NM_016641.3	NP_057725.1	Q9NZC3	GDE1_HUMAN	glycerophosphodiester phosphodiesterase 1	225	GDPD.				glycerol metabolic process|lipid metabolic process	cytoplasm|integral to membrane	glycerophosphodiester phosphodiesterase activity|glycerophosphoinositol glycerophosphodiesterase activity|metal ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)	13						AGGTCTGTGAGTTAATGCTGT	0.353													29	158					0	0	1	0	0	C	19516377	G	C	19516377	3	2	51	1	0	0	0	0	1	0	0	0	6351	1029	36	4	329	4	GDE1	16	19516377	Missense_Mutation	SNP	G	TCGA-DB-A75L-01A-11D-A32B-08		19516377	70838376	30	2233											
OR1E2	8388	broad.mit.edu	37	17	3336736	3336736	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A75L-01A-11D-A32B-08	TCGA-DB-A75L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c2e77c-ba13-42a3-95f7-9c6e12879cef	b820b9a4-9489-4f19-83b9-23b65828d5d2	g.chr17:3336736C>T	ENST00000248384.1	-	1	399	c.400G>A	c.(400-402)Gcc>Acc	p.A134T		NM_003554.1	NP_003545.1	P47887	OR1E2_HUMAN	olfactory receptor, family 1, subfamily E, member 2	134					sensory perception of smell	integral to plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(3)|lung(3)	9						AAGCAGATGGCGGTGTAGTGC	0.547													4	39					0	0	1	0	0	T	3336736	C	T	3336736	3	4	51	1	0	0	0	0	1	0	0	0	11003	768	27	1	574	1	OR1E2	17	3336736	Missense_Mutation	SNP	C	TCGA-DB-A75L-01A-11D-A32B-08		3336736	77858474	31	2234											
TP53	7157	broad.mit.edu	37	17	7577118	7577118	+	Missense_Mutation	SNP	C	C	A			TCGA-DB-A75L-01A-11D-A32B-08	TCGA-DB-A75L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c2e77c-ba13-42a3-95f7-9c6e12879cef	b820b9a4-9489-4f19-83b9-23b65828d5d2	g.chr17:7577118C>A	ENST00000420246.2	-	8	952	c.820G>T	c.(820-822)Gtt>Ttt	p.V274F	TP53_ENST00000455263.2_Missense_Mutation_p.V274F|TP53_ENST00000445888.2_Missense_Mutation_p.V274F|TP53_ENST00000269305.4_Missense_Mutation_p.V274F|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.V274F	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	274	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		V -> A (in sporadic cancers; somatic mutation).|V -> D (in sporadic cancers; somatic mutation).|V -> F (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> I (in sporadic cancers; somatic mutation).|V -> L (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.V274F(21)|p.V274L(11)|p.0?(8)|p.V274I(4)|p.?(2)|p.R273_C275delRVC(1)|p.V274fs*71(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.V274_P278del(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.V272_K292del21(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)		CAGGCACAAACACGCACCTCA	0.552		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)			24	1					6.44725e-10	6.62886e-10	1	1	0	A	7577118	C	A	7577118	3	1	51	1	0	0	0	0	1	0	0	0	16442	478	17	5	466	5	TP53	17	7577118	Missense_Mutation	SNP	C	TCGA-DB-A75L-01A-11D-A32B-08	4240382	7577118	73618092	32	2235											
MYH2	4620	broad.mit.edu	37	17	10426662	10426662	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A75L-01A-11D-A32B-08	TCGA-DB-A75L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c2e77c-ba13-42a3-95f7-9c6e12879cef	b820b9a4-9489-4f19-83b9-23b65828d5d2	g.chr17:10426662C>T	ENST00000245503.5	-	38	5924	c.5540G>A	c.(5539-5541)cGc>cAc	p.R1847H	CTC-297N7.11_ENST00000587182.2_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.R1847H|MYH2_ENST00000532183.2_Intron|RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1847					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						CTCATGTTTGCGCAGACCTTT	0.463													4	109					0	0	1	0	0	T	10426662	C	T	10426662	3	4	51	1	0	0	0	0	1	0	0	0	10083	768	27	1	297	1	MYH2	17	10426662	Missense_Mutation	SNP	C	TCGA-DB-A75L-01A-11D-A32B-08	2849544	10426662	70768548	33	2236											
SARM1	23098	broad.mit.edu	37	17	26712246	26712246	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A75L-01A-11D-A32B-08	TCGA-DB-A75L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c2e77c-ba13-42a3-95f7-9c6e12879cef	b820b9a4-9489-4f19-83b9-23b65828d5d2	g.chr17:26712246G>A	ENST00000457710.3	+	5	1951	c.1480G>A	c.(1480-1482)Ggc>Agc	p.G494S	SARM1_ENST00000379061.4_3'UTR	NM_015077.2	NP_055892.2	Q6SZW1	SARM1_HUMAN	sterile alpha and TIR motif containing 1	528	SAM 2.				innate immune response	cytoplasm|intrinsic to membrane	binding|transmembrane receptor activity			cervix(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	12	all_lung(13;0.000533)|Lung NSC(42;0.00171)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)		GGAAGACTGCGGCATCCACCT	0.741													6	4					0	0	1	0	0	A	26712246	G	A	26712246	3	1	51	1	0	0	0	0	1	0	0	0	13895	1116	39	1	1598	1	SARM1	17	26712246	Missense_Mutation	SNP	G	TCGA-DB-A75L-01A-11D-A32B-08	16285584	26712246	54482964	34	2237											
LIG3	3980	broad.mit.edu	37	17	33319550	33319550	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A75L-01A-11D-A32B-08	TCGA-DB-A75L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c2e77c-ba13-42a3-95f7-9c6e12879cef	b820b9a4-9489-4f19-83b9-23b65828d5d2	g.chr17:33319550G>A	ENST00000378526.4	+	8	1427	c.1294G>A	c.(1294-1296)Gcc>Acc	p.A432T	LIG3_ENST00000262327.5_Missense_Mutation_p.A432T	NM_013975.3	NP_039269.2	P49916	DNLI3_HUMAN	ligase III, DNA, ATP-dependent	432					base-excision repair|cell division|DNA ligation involved in DNA repair|DNA replication|reciprocal meiotic recombination|spermatogenesis	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|protein binding|zinc ion binding			endometrium(4)|large_intestine(8)|lung(9)|ovary(3)|pancreas(2)|prostate(1)|skin(3)|stomach(1)	31		Ovarian(249;0.17)			Bleomycin(DB00290)	CAGGTTAGACGCCCTTGACCC	0.542								Other BER factors					41	58					0	0	1	0	0	A	33319550	G	A	33319550	3	1	51	1	0	0	0	0	1	0	0	0	8822	1087	38	1	1320	1	LIG3	17	33319550	Missense_Mutation	SNP	G	TCGA-DB-A75L-01A-11D-A32B-08	6607304	33319550	47875660	35	2238											
SOST	50964	broad.mit.edu	37	17	41835920	41835920	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A75L-01A-11D-A32B-08	TCGA-DB-A75L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c2e77c-ba13-42a3-95f7-9c6e12879cef	b820b9a4-9489-4f19-83b9-23b65828d5d2	g.chr17:41835920G>A	ENST00000301691.2	-	1	236	c.190C>T	c.(190-192)Cgg>Tgg	p.R64W		NM_025237.2	NP_079513.1	Q9BQB4	SOST_HUMAN	sclerostin	64					negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of ossification|negative regulation of protein complex assembly|negative regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway		heparin binding|protein binding			large_intestine(2)|lung(3)|prostate(1)	6		Breast(137;0.00725)		UCEC - Uterine corpus endometrioid carcinoma (308;0.177)|BRCA - Breast invasive adenocarcinoma(366;0.0741)		TGGGGAGGCCGCCCTCCGTTC	0.562													3	18					0	0	1	0	0	A	41835920	G	A	41835920	3	1	51	1	0	0	0	0	1	0	0	0	14992	1086	38	1	459	1	SOST	17	41835920	Missense_Mutation	SNP	G	TCGA-DB-A75L-01A-11D-A32B-08	8516370	41835920	39359290	36	2239											
PTPRM	5797	broad.mit.edu	37	18	8244057	8244057	+	Splice_Site	SNP	A	A	G			TCGA-DB-A75L-01A-11D-A32B-08	TCGA-DB-A75L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c2e77c-ba13-42a3-95f7-9c6e12879cef	b820b9a4-9489-4f19-83b9-23b65828d5d2	g.chr18:8244057A>G	ENST00000332175.8	+	15	3339	c.2302A>G	c.(2302-2304)Aaa>Gaa	p.K768E	PTPRM_ENST00000400060.4_Splice_Site_p.K768E|PTPRM_ENST00000400053.4_Splice_Site_p.K706E|PTPRM_ENST00000580170.1_Splice_Site_p.K768E|PTPRM_ENST00000444013.1_Splice_Site_p.K555E	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	768					homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				TATCCTAAGGAAACTGGCCAA	0.438													21	34					0	0	1	0	0	G	8244057	A	G	8244057	5	3	51	1	0	0	0	0	0	0	1	0	12858	260	9	3	2360	3	PTPRM	18	8244057	Splice_Site	SNP	A	TCGA-DB-A75L-01A-11D-A32B-08		8244057	69833191	37	2240											
LAMA3	3909	broad.mit.edu	37	18	21494681	21494682	+	Frame_Shift_Ins	INS	-	-	TTAA			TCGA-DB-A75L-01A-11D-A32B-08	TCGA-DB-A75L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c2e77c-ba13-42a3-95f7-9c6e12879cef	b820b9a4-9489-4f19-83b9-23b65828d5d2	g.chr18:21494681_21494682insTTAA	ENST00000313654.9	+	58	7742_7743	c.7501_7502insTTAA	c.(7501-7503)cttfs	p.-2502fs	LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000269217.6_Frame_Shift_Ins_p.-893fs|LAMA3_ENST00000399516.3_Frame_Shift_Ins_p.-2446fs|LAMA3_ENST00000587184.1_Frame_Shift_Ins_p.-837fs	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3						cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GTTTGCAAGGCTTAATTACACC	0.347													15	36	---	---	---	---						TTAA	21494682	-	TTAA	21494681	7	5	51	1	0	1	1	0	0	0	0	0	8646	797	28	0	7906	0	LAMA3	18	21494681	Frame_Shift_Ins	INS	-	TCGA-DB-A75L-01A-11D-A32B-08	13250624	21494681	56582567	38	2241											
OSBPL1A	114876	broad.mit.edu	37	18	21758022	21758022	+	Missense_Mutation	SNP	C	C	A			TCGA-DB-A75L-01A-11D-A32B-08	TCGA-DB-A75L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c2e77c-ba13-42a3-95f7-9c6e12879cef	b820b9a4-9489-4f19-83b9-23b65828d5d2	g.chr18:21758022C>A	ENST00000319481.3	-	21	2254	c.2048G>T	c.(2047-2049)aGt>aTt	p.S683I	OSBPL1A_ENST00000399443.3_Missense_Mutation_p.S170I|OSBPL1A_ENST00000357041.4_Missense_Mutation_p.S301I	NM_080597.3	NP_542164.2	Q9BXW6	OSBL1_HUMAN	oxysterol binding protein-like 1A	683					cholesterol metabolic process|lipid transport|vesicle-mediated transport		phospholipid binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)					TGCTTCTACACTCTTCCCCCA	0.438													7	78					0.00448238	0.00454464	1	1	0	A	21758022	C	A	21758022	3	1	51	1	0	0	0	0	1	0	0	0	11324	565	20	4	836	4	OSBPL1A	18	21758022	Missense_Mutation	SNP	C	TCGA-DB-A75L-01A-11D-A32B-08	263341	21758022	56319226	39	2242											
OLFM2	93145	broad.mit.edu	37	19	9968435	9968435	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A75L-01A-11D-A32B-08	TCGA-DB-A75L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c2e77c-ba13-42a3-95f7-9c6e12879cef	b820b9a4-9489-4f19-83b9-23b65828d5d2	g.chr19:9968435G>A	ENST00000264833.4	-	3	501	c.316C>T	c.(316-318)Cgg>Tgg	p.R106W	OLFM2_ENST00000590841.1_Missense_Mutation_p.R28W	NM_058164.2	NP_477512.1	O95897	NOE2_HUMAN	olfactomedin 2	106			R -> Q (in dbSNP:rs2303100).			extracellular region				breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	31						GCCCGGAGCCGCGCATCCAGG	0.602													13	28					0	0	1	0	0	A	9968435	G	A	9968435	3	1	51	1	0	0	0	0	1	0	0	0	10901	1086	38	1	1064	1	OLFM2	19	9968435	Missense_Mutation	SNP	G	TCGA-DB-A75L-01A-11D-A32B-08		9968435	49160548	40	2243	7	2									
OLFM2	93145	broad.mit.edu	37	19	9968436	9968436	+	Silent	SNP	C	C	A			TCGA-DB-A75L-01A-11D-A32B-08	TCGA-DB-A75L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c2e77c-ba13-42a3-95f7-9c6e12879cef	b820b9a4-9489-4f19-83b9-23b65828d5d2	g.chr19:9968436C>A	ENST00000264833.4	-	3	500	c.315G>T	c.(313-315)gcG>gcT	p.A105A	OLFM2_ENST00000590841.1_Silent_p.A27A	NM_058164.2	NP_477512.1	O95897	NOE2_HUMAN	olfactomedin 2	105						extracellular region				breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	31						CCCGGAGCCGCGCATCCAGGC	0.597													10	28					6.44725e-10	6.62886e-10	1	1	0	A	9968436	C	A	9968436	2	1	51	1	0	0	0	0	0	0	0	1	10901	755	27	5		5	OLFM2	19	9968436	Silent	SNP	C	TCGA-DB-A75L-01A-11D-A32B-08	1	9968436	49160547	41	2244	7	2									
ILVBL	10994	broad.mit.edu	37	19	15233798	15233798	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A75L-01A-11D-A32B-08	TCGA-DB-A75L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c2e77c-ba13-42a3-95f7-9c6e12879cef	b820b9a4-9489-4f19-83b9-23b65828d5d2	g.chr19:15233798C>T	ENST00000263383.3	-	5	648	c.509G>A	c.(508-510)cGg>cAg	p.R170Q	ILVBL_ENST00000534378.1_Missense_Mutation_p.R63Q|ILVBL_ENST00000531635.1_5'UTR	NM_006844.3	NP_006835.2	A1L0T0	ILVBL_HUMAN	ilvB (bacterial acetolactate synthase)-like	170						integral to membrane	magnesium ion binding|thiamine pyrophosphate binding|transferase activity			NS(3)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)	26						ACAGAGTGGCCGGAAAAGGGA	0.632													6	79					0	0	1	0	0	T	15233798	C	T	15233798	3	4	51	1	0	0	0	0	1	0	0	0	7759	652	23	1	1437	1	ILVBL	19	15233798	Missense_Mutation	SNP	C	TCGA-DB-A75L-01A-11D-A32B-08	5265362	15233798	43895185	42	2245											
ZNF607	84775	broad.mit.edu	37	19	38190049	38190049	+	Missense_Mutation	SNP	T	T	G			TCGA-DB-A75L-01A-11D-A32B-08	TCGA-DB-A75L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c2e77c-ba13-42a3-95f7-9c6e12879cef	b820b9a4-9489-4f19-83b9-23b65828d5d2	g.chr19:38190049T>G	ENST00000355202.4	-	5	1578	c.983A>C	c.(982-984)cAg>cCg	p.Q328P	CTD-2528L19.4_ENST00000586606.2_Intron|ZNF607_ENST00000395835.3_Missense_Mutation_p.Q327P	NM_032689.4	NP_116078.4	Q96SK3	ZN607_HUMAN	zinc finger protein 607	328					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|lung(8)|urinary_tract(1)	27			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)			ATAAATTCTCTGATGCATGGT	0.398													9	161					0	0	1	0	0	G	38190049	T	G	38190049	3	3	51	1	0	0	0	0	1	0	0	0	18090	1580	55	5	1111	5	ZNF607	19	38190049	Missense_Mutation	SNP	T	TCGA-DB-A75L-01A-11D-A32B-08	22956251	38190049	20938934	43	2246											
SIGLEC5	8778	broad.mit.edu	37	19	52130861	52130861	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A75L-01A-11D-A32B-08	TCGA-DB-A75L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c2e77c-ba13-42a3-95f7-9c6e12879cef	b820b9a4-9489-4f19-83b9-23b65828d5d2	g.chr19:52130861C>T	ENST00000222107.4	-	6	1274	c.1136G>A	c.(1135-1137)gGc>gAc	p.G379D	SIGLEC5_ENST00000570106.2_Missense_Mutation_p.G379D|SIGLEC5_ENST00000534261.2_Missense_Mutation_p.G379D|SIGLEC5_ENST00000429354.3_Missense_Mutation_p.G379D|SIGLEC5_ENST00000599649.1_Missense_Mutation_p.G379D			O15389	SIGL5_HUMAN	sialic acid binding Ig-like lectin 5	379					cell adhesion	integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(9)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		all_neural(266;0.0726)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218)		CTTGAATGAGCCCTGGCTGCT	0.662													14	6					0	0	1	0	0	T	52130861	C	T	52130861	3	4	51	1	0	0	0	0	1	0	0	0	14366	739	26	2	535	2	SIGLEC5	19	52130861	Missense_Mutation	SNP	C	TCGA-DB-A75L-01A-11D-A32B-08	13940812	52130861	6998122	44	2247											
YY2	404281	broad.mit.edu	37	X	21875031	21875031	+	Silent	SNP	A	A	G			TCGA-DB-A75L-01A-11D-A32B-08	TCGA-DB-A75L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c2e77c-ba13-42a3-95f7-9c6e12879cef	b820b9a4-9489-4f19-83b9-23b65828d5d2	g.chrX:21875031A>G	ENST00000429584.2	+	1	927	c.429A>G	c.(427-429)aaA>aaG	p.K143K	MBTPS2_ENST00000379484.5_Intron|MBTPS2_ENST00000365779.2_Intron|MBTPS2_ENST00000465888.1_3'UTR	NM_206923.3	NP_996806.2	O15391	TYY2_HUMAN	YY2 transcription factor	143					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|plasma membrane	DNA binding|zinc ion binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(2)	19						agcccagcaaaaagcccagcG	0.602													3	48					0	0	1	0	0	G	21875031	A	G	21875031	2	3	51	1	0	0	0	0	0	0	0	1	17569	11	1	3		3	YY2	23	21875031	Silent	SNP	A	TCGA-DB-A75L-01A-11D-A32B-08		21875031	133395529	45	2248											
DMD	1756	broad.mit.edu	37	X	31947768	31947768	+	Missense_Mutation	SNP	T	T	C			TCGA-DB-A75L-01A-11D-A32B-08	TCGA-DB-A75L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c2e77c-ba13-42a3-95f7-9c6e12879cef	b820b9a4-9489-4f19-83b9-23b65828d5d2	g.chrX:31947768T>C	ENST00000357033.4	-	47	7063	c.6857A>G	c.(6856-6858)gAa>gGa	p.E2286G	DMD_ENST00000474231.1_5'UTR|DMD_ENST00000343523.2_5'UTR|DMD_ENST00000378677.2_Missense_Mutation_p.E2282G|DMD_ENST00000359836.1_5'UTR|DMD_ENST00000541735.1_5'UTR|DMD_ENST00000378707.3_5'UTR	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	2286					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				ATCTTGCTCTTCTGGGCTTAT	0.428													52	86					0	0	1	0	0	C	31947768	T	C	31947768	3	2	51	1	0	0	0	0	1	0	0	0	4608	1783	62	3	4480	3	DMD	23	31947768	Missense_Mutation	SNP	T	TCGA-DB-A75L-01A-11D-A32B-08	10072737	31947768	123322792	46	2249											
NLGN3	54413	broad.mit.edu	37	X	70386886	70386886	+	Silent	SNP	A	A	G			TCGA-DB-A75L-01A-11D-A32B-08	TCGA-DB-A75L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c2e77c-ba13-42a3-95f7-9c6e12879cef	b820b9a4-9489-4f19-83b9-23b65828d5d2	g.chrX:70386886A>G	ENST00000374051.3	+	6	1201	c.879A>G	c.(877-879)caA>caG	p.Q293Q	NLGN3_ENST00000358741.3_Silent_p.Q313Q|NLGN3_ENST00000536169.1_Silent_p.Q273Q|NLGN3_ENST00000476589.1_3'UTR	NM_018977.3	NP_061850.2	Q9NZ94	NLGN3_HUMAN	neuroligin 3	313					neuron cell-cell adhesion|positive regulation of synaptogenesis|receptor-mediated endocytosis|social behavior|synapse assembly	cell surface|endocytic vesicle|integral to plasma membrane|synapse	neurexin binding|receptor activity			biliary_tract(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	37	Renal(35;0.156)					CCATCATCCAAAGTGGCTCTG	0.512													6	11					0	0	1	0	0	G	70386886	A	G	70386886	2	3	51	1	0	0	0	0	0	0	0	1	10510	11	1	3		3	NLGN3	23	70386886	Silent	SNP	A	TCGA-DB-A75L-01A-11D-A32B-08	38439118	70386886	84883674	47	2250											
PGK1	5230	broad.mit.edu	37	X	77369613	77369613	+	Missense_Mutation	SNP	C	C	A			TCGA-DB-A75L-01A-11D-A32B-08	TCGA-DB-A75L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c2e77c-ba13-42a3-95f7-9c6e12879cef	b820b9a4-9489-4f19-83b9-23b65828d5d2	g.chrX:77369613C>A	ENST00000373316.4	+	4	540	c.373C>A	c.(373-375)Cat>Aat	p.H125N	PGK1_ENST00000442431.1_Intron|PGK1_ENST00000537456.1_Missense_Mutation_p.H97N	NM_000291.3	NP_000282.1	P00558	PGK1_HUMAN	phosphoglycerate kinase 1	125					gluconeogenesis|glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	24						CCTCCGCTTTCATGTGGAGGA	0.517													38	180					1.04594e-18	1.10657e-18	1	1	0	A	77369613	C	A	77369613	3	1	51	1	0	0	0	0	1	0	0	0	11838	826	29	5	387	5	PGK1	23	77369613	Missense_Mutation	SNP	C	TCGA-DB-A75L-01A-11D-A32B-08	6982727	77369613	77900947	48	2251											
GPC4	2239	broad.mit.edu	37	X	132436968	132436968	+	Missense_Mutation	SNP	C	C	G	rs148166792		TCGA-DB-A75L-01A-11D-A32B-08	TCGA-DB-A75L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c2e77c-ba13-42a3-95f7-9c6e12879cef	b820b9a4-9489-4f19-83b9-23b65828d5d2	g.chrX:132436968C>G	ENST00000370828.3	-	9	2122	c.1598G>C	c.(1597-1599)cGt>cCt	p.R533P	GPC4_ENST00000535467.1_Missense_Mutation_p.R463P	NM_001448.2	NP_001439.2	O75487	GPC4_HUMAN	glypican 4	533					anatomical structure morphogenesis|cell proliferation	anchored to membrane|external side of plasma membrane|extracellular space|insoluble fraction|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;0.000127)					TGCCCCAGGACGGACACCAGC	0.502													102	121					0	0	1	0	0	G	132436968	C	G	132436968	3	3	51	1	0	0	0	0	1	0	0	0	6640	536	19	5	76	5	GPC4	23	132436968	Missense_Mutation	SNP	C	TCGA-DB-A75L-01A-11D-A32B-08	55067355	132436968	22833592	49	2252											
TMEM185A	84548	broad.mit.edu	37	X	148690457	148690457	+	Silent	SNP	A	A	G			TCGA-DB-A75L-01A-11D-A32B-08	TCGA-DB-A75L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c2e77c-ba13-42a3-95f7-9c6e12879cef	b820b9a4-9489-4f19-83b9-23b65828d5d2	g.chrX:148690457A>G	ENST00000316916.8	-	3	584	c.280T>C	c.(280-282)Ttg>Ctg	p.L94L	TMEM185A_ENST00000536359.1_Silent_p.L35L|TMEM185A_ENST00000507237.1_Silent_p.L94L	NM_032508.2	NP_115897.1	Q8NFB2	T185A_HUMAN	transmembrane protein 185A	94						integral to membrane				kidney(1)|large_intestine(3)|lung(10)|ovary(1)	15	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					AACATCAACAAGAGCAAGTGG	0.468													35	107					0	0	1	0	0	G	148690457	A	G	148690457	2	3	51	1	0	0	0	0	0	0	0	1	16167	69	3	3		3	TMEM185A	23	148690457	Silent	SNP	A	TCGA-DB-A75L-01A-11D-A32B-08	16253489	148690457	6580103	50	2253											
RUNX3	864	broad.mit.edu	37	1	25228807	25228807	+	Missense_Mutation	SNP	C	C	A			TCGA-DB-A75M-01A-11D-A32B-08	TCGA-DB-A75M-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f0261e0-ff3e-4bd6-bb8d-914187a67923	10dda1e2-c52b-4495-b0a4-150c7de6f1b4	g.chr1:25228807C>A	ENST00000399916.1	-	6	1534	c.1096G>T	c.(1096-1098)Ggg>Tgg	p.G366W	RUNX3_ENST00000308873.6_Missense_Mutation_p.G352W|RUNX3_ENST00000540420.1_Missense_Mutation_p.G259W|RUNX3_ENST00000338888.3_Missense_Mutation_p.G366W	NM_001031680.2	NP_001026850.1	Q13761	RUNX3_HUMAN	runt-related transcription factor 3	352	Pro/Ser/Thr-rich.				cell proliferation|induction of apoptosis|negative regulation of cell cycle|negative regulation of epithelial cell proliferation|protein phosphorylation|transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(3)	18		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00131)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;2.85e-26)|Colorectal(126;4.35e-08)|COAD - Colon adenocarcinoma(152;1.92e-06)|GBM - Glioblastoma multiforme(114;0.000102)|STAD - Stomach adenocarcinoma(196;0.000766)|KIRC - Kidney renal clear cell carcinoma(1967;0.00148)|BRCA - Breast invasive adenocarcinoma(304;0.00173)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.136)		CGGTCGCCCCCACTGCTGCTG	0.682													8	10					3.09899e-07	3.28128e-07	1	1	0	A	25228807	C	A	25228807	3	1	52	1	0	0	0	0	1	0	0	0	13801	594	21	5	197	5	RUNX3	1	25228807	Missense_Mutation	SNP	C	TCGA-DB-A75M-01A-11D-A32B-08		25228807	224021814	1	2254											
RAD54L	8438	broad.mit.edu	37	1	46736447	46736447	+	Missense_Mutation	SNP	A	A	G			TCGA-DB-A75M-01A-11D-A32B-08	TCGA-DB-A75M-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f0261e0-ff3e-4bd6-bb8d-914187a67923	10dda1e2-c52b-4495-b0a4-150c7de6f1b4	g.chr1:46736447A>G	ENST00000371975.4	+	10	1833	c.1159A>G	c.(1159-1161)Att>Gtt	p.I387V	RAD54L_ENST00000442598.1_Missense_Mutation_p.I387V|RAD54L_ENST00000473251.1_3'UTR	NM_003579.3	NP_003570.2	Q92698	RAD54_HUMAN	RAD54-like (S. cerevisiae)	387					meiosis	nucleus	ATP binding|DNA binding|helicase activity			breast(2)|cervix(1)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	25	Acute lymphoblastic leukemia(166;0.155)	Breast(1374;0.0634)		KIRC - Kidney renal clear cell carcinoma(1967;0.000896)		GCTCACCAGCATTGTGAATAG	0.512								Direct reversal of damage;Homologous recombination					3	54					0	0	1	0	0	G	46736447	A	G	46736447	3	3	52	1	0	0	0	0	1	0	0	0	13045	217	8	3	1197	3	RAD54L	1	46736447	Missense_Mutation	SNP	A	TCGA-DB-A75M-01A-11D-A32B-08	21507640	46736447	202514174	2	2255											
DNAH7	56171	broad.mit.edu	37	2	196723412	196723412	+	Missense_Mutation	SNP	A	A	G			TCGA-DB-A75M-01A-11D-A32B-08	TCGA-DB-A75M-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f0261e0-ff3e-4bd6-bb8d-914187a67923	10dda1e2-c52b-4495-b0a4-150c7de6f1b4	g.chr2:196723412A>G	ENST00000312428.6	-	43	7953	c.7853T>C	c.(7852-7854)gTt>gCt	p.V2618A		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2618	Stalk (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TTTGCTAGCAACTTTTAATTG	0.378													6	84					0	0	1	0	0	G	196723412	A	G	196723412	3	3	52	1	0	0	0	0	1	0	0	0	4633	43	2	3	4313	3	DNAH7	2	196723412	Missense_Mutation	SNP	A	TCGA-DB-A75M-01A-11D-A32B-08		196723412	46475961	3	2256											
SF3B1	23451	broad.mit.edu	37	2	198265653	198265653	+	Missense_Mutation	SNP	T	T	A			TCGA-DB-A75M-01A-11D-A32B-08	TCGA-DB-A75M-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f0261e0-ff3e-4bd6-bb8d-914187a67923	10dda1e2-c52b-4495-b0a4-150c7de6f1b4	g.chr2:198265653T>A	ENST00000335508.6	-	18	2595	c.2504A>T	c.(2503-2505)gAt>gTt	p.D835V		NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa						nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding			NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			CACAGTAGTATCAACTAACTA	0.343			Mis		myelodysplastic syndrome								14	26					0	0	1	0	0	A	198265653	T	A	198265653	3	1	52	1	0	0	0	0	1	0	0	0	14203	1435	50	4	1442	4	SF3B1	2	198265653	Missense_Mutation	SNP	T	TCGA-DB-A75M-01A-11D-A32B-08	1542241	198265653	44933720	4	2257											
IDH1	3417	broad.mit.edu	37	2	209113113	209113113	+	Missense_Mutation	SNP	G	G	A	rs121913499		TCGA-DB-A75M-01A-11D-A32B-08	TCGA-DB-A75M-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f0261e0-ff3e-4bd6-bb8d-914187a67923	10dda1e2-c52b-4495-b0a4-150c7de6f1b4	g.chr2:209113113G>A	ENST00000415913.1	-	4	775	c.394C>T	c.(394-396)Cgt>Tgt	p.R132C	IDH1_ENST00000446179.1_Missense_Mutation_p.R132C|IDH1_ENST00000345146.2_Missense_Mutation_p.R132C	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		TAAGCATGACGACCTATGATG	0.398			Mis		gliobastoma								13	43					0	0	1	0	0	A	209113113	G	A	209113113	3	1	52	1	0	0	0	0	1	0	0	0	7538	1058	37	1	878	1	IDH1	2	209113113	Missense_Mutation	SNP	G	TCGA-DB-A75M-01A-11D-A32B-08	10847460	209113113	34086260	5	2258											
ATR	545	broad.mit.edu	37	3	142238509	142238509	+	Splice_Site	SNP	A	A	G			TCGA-DB-A75M-01A-11D-A32B-08	TCGA-DB-A75M-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f0261e0-ff3e-4bd6-bb8d-914187a67923	10dda1e2-c52b-4495-b0a4-150c7de6f1b4	g.chr3:142238509A>G	ENST00000350721.4	-	24	4504		c.e24+1		ATR_ENST00000383101.3_Splice_Site	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related						cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						aaGCCTACATACCTGGTATTT	0.398								Other conserved DNA damage response genes					12	65					0	0	1	0	0	G	142238509	A	G	142238509	5	3	52	1	0	0	0	0	0	0	1	0	1202	405	14	3	3646	3	ATR	3	142238509	Splice_Site	SNP	A	TCGA-DB-A75M-01A-11D-A32B-08		142238509	55783921	6	2259											
PTX3	5806	broad.mit.edu	37	3	157154853	157154853	+	Splice_Site	SNP	G	G	A			TCGA-DB-A75M-01A-11D-A32B-08	TCGA-DB-A75M-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f0261e0-ff3e-4bd6-bb8d-914187a67923	10dda1e2-c52b-4495-b0a4-150c7de6f1b4	g.chr3:157154853G>A	ENST00000295927.3	+	1	275		c.e1+1		VEPH1_ENST00000392833.2_Intron|VEPH1_ENST00000543418.1_Intron|VEPH1_ENST00000362010.2_Intron|VEPH1_ENST00000392832.2_Intron	NM_002852.3	NP_002843.2	P26022	PTX3_HUMAN	pentraxin 3, long						inflammatory response	extracellular region				central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|stomach(1)	10			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			ACTGAGGACCGTAAGTTCACT	0.423													4	158					0	0	1	0	0	A	157154853	G	A	157154853	5	1	52	1	0	0	0	0	0	0	1	0	12874	1159	40	1	133	1	PTX3	3	157154853	Splice_Site	SNP	G	TCGA-DB-A75M-01A-11D-A32B-08	14916344	157154853	40867577	7	2260											
PRSS12	8492	broad.mit.edu	37	4	119216997	119216997	+	Missense_Mutation	SNP	C	C	G	rs145983533		TCGA-DB-A75M-01A-11D-A32B-08	TCGA-DB-A75M-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f0261e0-ff3e-4bd6-bb8d-914187a67923	10dda1e2-c52b-4495-b0a4-150c7de6f1b4	g.chr4:119216997C>G	ENST00000296498.3	-	10	2134	c.1852G>C	c.(1852-1854)Gtt>Ctt	p.V618L	PRSS12_ENST00000510903.1_5'UTR	NM_003619.3	NP_003610.2	P56730	NETR_HUMAN	protease, serine, 12 (neurotrypsin, motopsin)	618						membrane	scavenger receptor activity			endometrium(3)|kidney(1)|large_intestine(9)|lung(11)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	29						AAGCCACAAACAGATGAGAGG	0.403													32	47					0	0	1	0	0	G	119216997	C	G	119216997	3	3	52	1	0	0	0	0	1	0	0	0	12665	478	17	5	791	5	PRSS12	4	119216997	Missense_Mutation	SNP	C	TCGA-DB-A75M-01A-11D-A32B-08		119216997	71937279	8	2261											
ANKRD50	57182	broad.mit.edu	37	4	125590192	125590192	+	Missense_Mutation	SNP	T	T	C			TCGA-DB-A75M-01A-11D-A32B-08	TCGA-DB-A75M-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f0261e0-ff3e-4bd6-bb8d-914187a67923	10dda1e2-c52b-4495-b0a4-150c7de6f1b4	g.chr4:125590192T>C	ENST00000504087.1	-	4	5277	c.4240A>G	c.(4240-4242)Att>Gtt	p.I1414V	ANKRD50_ENST00000515641.1_Missense_Mutation_p.I1235V	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	1414										NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						GAACCTTCAATCTGAAGCTTC	0.388													25	44					0	0	1	0	0	C	125590192	T	C	125590192	3	2	52	1	0	0	0	0	1	0	0	0	671	1435	50	3	53	3	ANKRD50	4	125590192	Missense_Mutation	SNP	T	TCGA-DB-A75M-01A-11D-A32B-08	6373195	125590192	65564084	9	2262											
INTU	27152	broad.mit.edu	37	4	128621196	128621196	+	Missense_Mutation	SNP	A	A	G			TCGA-DB-A75M-01A-11D-A32B-08	TCGA-DB-A75M-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f0261e0-ff3e-4bd6-bb8d-914187a67923	10dda1e2-c52b-4495-b0a4-150c7de6f1b4	g.chr4:128621196A>G	ENST00000335251.6	+	9	1584	c.1481A>G	c.(1480-1482)gAg>gGg	p.E494G	INTU_ENST00000512995.1_3'UTR	NM_015693.3	NP_056508.2	Q9ULD6	PDZD6_HUMAN	inturned planar cell polarity protein											breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	43						AGTGACTTGGAGGCTGCAGAT	0.303													35	49					0	0	1	0	0	G	128621196	A	G	128621196	3	3	52	1	0	0	0	0	1	0	0	0	7830	304	11	3	1515	3	INTU	4	128621196	Missense_Mutation	SNP	A	TCGA-DB-A75M-01A-11D-A32B-08	3031004	128621196	62533080	10	2263											
IRF4	3662	broad.mit.edu	37	6	394869	394869	+	Missense_Mutation	SNP	G	G	T			TCGA-DB-A75M-01A-11D-A32B-08	TCGA-DB-A75M-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f0261e0-ff3e-4bd6-bb8d-914187a67923	10dda1e2-c52b-4495-b0a4-150c7de6f1b4	g.chr6:394869G>T	ENST00000380956.4	+	3	391	c.265G>T	c.(265-267)Gac>Tac	p.D89Y	IRF4_ENST00000495137.1_3'UTR	NM_001195286.1|NM_002460.3	NP_001182215.1|NP_002451.2	Q15306	IRF4_HUMAN	interferon regulatory factor 4	89					interferon-gamma-mediated signaling pathway|positive regulation of interleukin-10 biosynthetic process|positive regulation of interleukin-13 biosynthetic process|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of transcription, DNA-dependent|regulation of T-helper cell differentiation|T cell activation|type I interferon-mediated signaling pathway	cytoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5		Breast(5;0.0155)|all_lung(73;0.0691)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.03)|BRCA - Breast invasive adenocarcinoma(62;0.0702)		CGACAAGCCGGACCCTCCCAC	0.512			T	IGH@	MM								27	76					2.0833e-19	2.41932e-19	1	1	0	T	394869	G	T	394869	3	4	52	1	0	0	0	0	1	0	0	0	7876	1174	41	5	271	5	IRF4	6	394869	Missense_Mutation	SNP	G	TCGA-DB-A75M-01A-11D-A32B-08		394869	170720198	11	2264											
GPR110	266977	broad.mit.edu	37	6	46982425	46982425	+	Missense_Mutation	SNP	G	G	C			TCGA-DB-A75M-01A-11D-A32B-08	TCGA-DB-A75M-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f0261e0-ff3e-4bd6-bb8d-914187a67923	10dda1e2-c52b-4495-b0a4-150c7de6f1b4	g.chr6:46982425G>C	ENST00000371253.2	-	9	1134	c.919C>G	c.(919-921)Ctg>Gtg	p.L307V	GPR110_ENST00000283297.5_Missense_Mutation_p.L110V|GPR110_ENST00000449332.2_5'UTR	NM_153840.2	NP_722582.2	Q5T601	GP110_HUMAN	G protein-coupled receptor 110	307					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	29						ACCTTGTTCAGTTCTTCAAGC	0.522													17	31					0	0	1	0	0	C	46982425	G	C	46982425	3	2	52	1	0	0	0	0	1	0	0	0	6667	1020	36	4	1841	4	GPR110	6	46982425	Missense_Mutation	SNP	G	TCGA-DB-A75M-01A-11D-A32B-08	46587556	46982425	124132642	12	2265											
NOBOX	135935	broad.mit.edu	37	7	144098450	144098450	+	Missense_Mutation	SNP	G	G	T			TCGA-DB-A75M-01A-11D-A32B-08	TCGA-DB-A75M-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f0261e0-ff3e-4bd6-bb8d-914187a67923	10dda1e2-c52b-4495-b0a4-150c7de6f1b4	g.chr7:144098450G>T	ENST00000467773.1	-	4	532	c.533C>A	c.(532-534)cCc>cAc	p.P178H	NOBOX_ENST00000223140.5_Missense_Mutation_p.P93H|NOBOX_ENST00000483238.1_Missense_Mutation_p.P178H	NM_001080413.3	NP_001073882.3	O60393	NOBOX_HUMAN	NOBOX oogenesis homeobox	178					cell differentiation|oogenesis	nucleus	sequence-specific DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	26	Melanoma(164;0.14)					CTGAGTCTGGGGCCTGGAGCG	0.617													8	8					0.00307968	0.00316767	1	1	0	T	144098450	G	T	144098450	3	4	52	1	0	0	0	0	1	0	0	0	10559	1232	43	5	1474	5	NOBOX	7	144098450	Missense_Mutation	SNP	G	TCGA-DB-A75M-01A-11D-A32B-08		144098450	15040213	13	2266											
STAR	6770	broad.mit.edu	37	8	38003533	38003533	+	Missense_Mutation	SNP	C	C	G			TCGA-DB-A75M-01A-11D-A32B-08	TCGA-DB-A75M-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f0261e0-ff3e-4bd6-bb8d-914187a67923	10dda1e2-c52b-4495-b0a4-150c7de6f1b4	g.chr8:38003533C>G	ENST00000276449.4	-	5	1044	c.598G>C	c.(598-600)Gct>Cct	p.A200P		NM_000349.2	NP_000340.2	P49675	STAR_HUMAN	steroidogenic acute regulatory protein	200	START.				C21-steroid hormone biosynthetic process	mitochondrial intermembrane space	cholesterol transporter activity			breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	11	Colorectal(12;0.000442)	all_lung(54;0.0151)|Lung NSC(58;0.0295)		READ - Rectum adenocarcinoma(644;0.188)		GCCATGCCAGCCAGCACACAG	0.622													11	31					0	0	1	0	0	G	38003533	C	G	38003533	3	3	52	1	0	0	0	0	1	0	0	0	15310	739	26	5	271	5	STAR	8	38003533	Missense_Mutation	SNP	C	TCGA-DB-A75M-01A-11D-A32B-08		38003533	108360489	14	2267											
SDR16C5	195814	broad.mit.edu	37	8	57228684	57228684	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A75M-01A-11D-A32B-08	TCGA-DB-A75M-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f0261e0-ff3e-4bd6-bb8d-914187a67923	10dda1e2-c52b-4495-b0a4-150c7de6f1b4	g.chr8:57228684C>T	ENST00000396721.2	-	2	353	c.223G>A	c.(223-225)Gag>Aag	p.E75K	SDR16C5_ENST00000522671.1_Missense_Mutation_p.E75K|SDR16C5_ENST00000303749.3_Missense_Mutation_p.E75K			Q8N3Y7	RDHE2_HUMAN	short chain dehydrogenase/reductase family 16C, member 5	75					detection of light stimulus involved in visual perception|keratinocyte proliferation|retinal metabolic process|retinol metabolic process	endoplasmic reticulum membrane|integral to membrane|integral to membrane of membrane fraction	binding|retinol dehydrogenase activity	p.E75K(1)		breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1)	16						TCATTCCCCTCCTTATTGATA	0.507													5	85					0	0	1	0	0	T	57228684	C	T	57228684	3	4	52	1	0	0	0	0	1	0	0	0	14025	864	30	2	730	2	SDR16C5	8	57228684	Missense_Mutation	SNP	C	TCGA-DB-A75M-01A-11D-A32B-08	19225151	57228684	89135338	15	2268											
MATN2	4147	broad.mit.edu	37	8	98943201	98943201	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A75M-01A-11D-A32B-08	TCGA-DB-A75M-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f0261e0-ff3e-4bd6-bb8d-914187a67923	10dda1e2-c52b-4495-b0a4-150c7de6f1b4	g.chr8:98943201C>T	ENST00000254898.5	+	3	394	c.163C>T	c.(163-165)Cgg>Tgg	p.R55W	MATN2_ENST00000521689.1_Missense_Mutation_p.R55W|MATN2_ENST00000522025.2_Intron|MATN2_ENST00000520016.1_Missense_Mutation_p.R55W|MATN2_ENST00000524308.1_Missense_Mutation_p.R55W	NM_002380.3|NM_030583.2	NP_002371.3|NP_085072.2	O00339	MATN2_HUMAN	matrilin 2	55						proteinaceous extracellular matrix	calcium ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(2)|urinary_tract(1)	31	Breast(36;1.43e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.244)			TGAGAACAAGCGGGCAGACCT	0.493													4	19					0	0	1	0	0	T	98943201	C	T	98943201	3	4	52	1	0	0	0	0	1	0	0	0	9384	759	27	1	169	1	MATN2	8	98943201	Missense_Mutation	SNP	C	TCGA-DB-A75M-01A-11D-A32B-08	41714517	98943201	47420821	16	2269											
C9orf3	84909	broad.mit.edu	37	9	97522482	97522482	+	Missense_Mutation	SNP	T	T	A			TCGA-DB-A75M-01A-11D-A32B-08	TCGA-DB-A75M-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f0261e0-ff3e-4bd6-bb8d-914187a67923	10dda1e2-c52b-4495-b0a4-150c7de6f1b4	g.chr9:97522482T>A	ENST00000375315.2	+	1	417	c.417T>A	c.(415-417)agT>agA	p.S139R	C9orf3_ENST00000277198.2_Missense_Mutation_p.S139R|C9orf3_ENST00000297979.5_Missense_Mutation_p.S139R	NM_001193329.1	NP_001180258.1	Q8N6M6	AMPO_HUMAN	chromosome 9 open reading frame 3	139					leukotriene biosynthetic process|proteolysis	cytoplasm	aminopeptidase activity|metallopeptidase activity|zinc ion binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(323;0.000275)		ATCATGGGAGTGAGGATTTTT	0.423													8	242					0	0	1	0	0	A	97522482	T	A	97522482	3	1	52	1	0	0	0	0	1	0	0	0	2495	1693	59	5	419	5	C9orf3	9	97522482	Missense_Mutation	SNP	T	TCGA-DB-A75M-01A-11D-A32B-08		97522482	43690949	17	2270											
MUC5B	727897	broad.mit.edu	37	11	1266089	1266089	+	Missense_Mutation	SNP	C	C	G			TCGA-DB-A75M-01A-11D-A32B-08	TCGA-DB-A75M-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f0261e0-ff3e-4bd6-bb8d-914187a67923	10dda1e2-c52b-4495-b0a4-150c7de6f1b4	g.chr11:1266089C>G	ENST00000447027.1	+	31	8046	c.7988C>G	c.(7987-7989)aCa>aGa	p.T2663R	MUC5B_ENST00000529681.1_Missense_Mutation_p.T2660R|RP11-532E4.2_ENST00000532061.2_RNA			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	2660	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398).	cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CACACCCCCACAGTGCTGACC	0.617													6	13					0	0	1	0	0	G	1266089	C	G	1266089	3	3	52	1	0	0	0	0	1	0	0	0	10027	478	17	5	8110	5	MUC5B	11	1266089	Missense_Mutation	SNP	C	TCGA-DB-A75M-01A-11D-A32B-08		1266089	133740427	18	2271											
ARID2	196528	broad.mit.edu	37	12	46246183	46246183	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DB-A75M-01A-11D-A32B-08	TCGA-DB-A75M-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f0261e0-ff3e-4bd6-bb8d-914187a67923	10dda1e2-c52b-4495-b0a4-150c7de6f1b4	g.chr12:46246183C>A	ENST00000334344.6	+	15	4449	c.4277C>A	c.(4276-4278)tCa>tAa	p.S1426*	ARID2_ENST00000444670.1_Nonsense_Mutation_p.S1036*|ARID2_ENST00000457135.1_Nonsense_Mutation_p.S34*|ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000422737.1_Nonsense_Mutation_p.S1277*	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	1426					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		TTGGGTGGTTCATCTGTGAGC	0.403			"N, S, F"		hepatocellular carcinoma								8	96					1.06961e-07	1.16685e-07	1	1	0	A	46246183	C	A	46246183	4	1	52	1	0	0	0	0	0	1	0	0	912	838	29	5	4335	5	ARID2	12	46246183	Nonsense_Mutation	SNP	C	TCGA-DB-A75M-01A-11D-A32B-08		46246183	87605712	19	2272											
SETD3	84193	broad.mit.edu	37	14	99865292	99865292	+	Silent	SNP	T	T	C			TCGA-DB-A75M-01A-11D-A32B-08	TCGA-DB-A75M-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f0261e0-ff3e-4bd6-bb8d-914187a67923	10dda1e2-c52b-4495-b0a4-150c7de6f1b4	g.chr14:99865292T>C	ENST00000331768.5	-	13	1668	c.1509A>G	c.(1507-1509)gaA>gaG	p.E503E		NM_032233.2	NP_115609.2	Q86TU7	SETD3_HUMAN	SET domain containing 3	503					peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|peptidyl-lysine trimethylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone methyltransferase activity (H3-K36 specific)|transcription coactivator activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25		all_cancers(154;0.224)|all_epithelial(191;0.0644)|Melanoma(154;0.0866)				GGTTACTCTCTTCATATTTGG	0.527													11	175					0	0	1	0	0	C	99865292	T	C	99865292	2	2	52	1	0	0	0	0	0	0	0	1	14186	1606	56	3		3	SETD3	14	99865292	Silent	SNP	T	TCGA-DB-A75M-01A-11D-A32B-08		99865292	7484248	20	2273											
SLC12A3	6559	broad.mit.edu	37	16	56906653	56906653	+	Silent	SNP	G	G	A			TCGA-DB-A75M-01A-11D-A32B-08	TCGA-DB-A75M-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f0261e0-ff3e-4bd6-bb8d-914187a67923	10dda1e2-c52b-4495-b0a4-150c7de6f1b4	g.chr16:56906653G>A	ENST00000438926.2	+	8	1079	c.1050G>A	c.(1048-1050)tcG>tcA	p.S350S	SLC12A3_ENST00000563236.1_Silent_p.S350S|SLC12A3_ENST00000566786.1_Silent_p.S349S|SLC12A3_ENST00000262502.5_Silent_p.S349S	NM_000339.2|NM_001126107.1|NM_001126108.1	NP_000330|NP_001119579.1|NP_001119580.1	P55017	S12A3_HUMAN	solute carrier family 12 (sodium/chloride transporter), member 3	350					sodium ion transmembrane transport	apical plasma membrane|integral to plasma membrane|membrane fraction	sodium:chloride symporter activity			breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	TCTTCCCCTCGGCCACAGGCA	0.567													20	24					0	0	1	0	0	A	56906653	G	A	56906653	2	1	52	1	0	0	0	0	0	0	0	1	14439	1103	39	1		1	SLC12A3	16	56906653	Silent	SNP	G	TCGA-DB-A75M-01A-11D-A32B-08		56906653	33448100	21	2274											
TP53	7157	broad.mit.edu	37	17	7577114	7577114	+	Missense_Mutation	SNP	C	C	A			TCGA-DB-A75M-01A-11D-A32B-08	TCGA-DB-A75M-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f0261e0-ff3e-4bd6-bb8d-914187a67923	10dda1e2-c52b-4495-b0a4-150c7de6f1b4	g.chr17:7577114C>A	ENST00000420246.2	-	8	956	c.824G>T	c.(823-825)tGt>tTt	p.C275F	TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.C275F|TP53_ENST00000269305.4_Missense_Mutation_p.C275F|TP53_ENST00000455263.2_Missense_Mutation_p.C275F|TP53_ENST00000445888.2_Missense_Mutation_p.C275F	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	275	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.C275Y(53)|p.C275F(37)|p.0?(8)|p.C275fs*70(3)|p.?(2)|p.C275S(2)|p.C275fs*20(1)|p.L265_K305del41(1)|p.R273_C275delRVC(1)|p.F270_D281del12(1)|p.V274_P278del(1)|p.A276fs*29(1)|p.S269fs*21(1)|p.C275fs*67(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(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)		AGGACAGGCACAAACACGCAC	0.552		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)			22	2					4.35082e-09	4.89467e-09	1	1	0	A	7577114	C	A	7577114	3	1	52	1	0	0	0	0	1	0	0	0	16442	478	17	5	462	5	TP53	17	7577114	Missense_Mutation	SNP	C	TCGA-DB-A75M-01A-11D-A32B-08		7577114	73618096	22	2275											
IRGC	56269	broad.mit.edu	37	19	44223451	44223451	+	Silent	SNP	G	G	A			TCGA-DB-A75M-01A-11D-A32B-08	TCGA-DB-A75M-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f0261e0-ff3e-4bd6-bb8d-914187a67923	10dda1e2-c52b-4495-b0a4-150c7de6f1b4	g.chr19:44223451G>A	ENST00000244314.5	+	2	940	c.741G>A	c.(739-741)tcG>tcA	p.S247S		NM_019612.3	NP_062558.1	Q6NXR0	IIGP5_HUMAN	immunity-related GTPase family, cinema	247						membrane	GTP binding|hydrolase activity, acting on acid anhydrides			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(2)	25		Prostate(69;0.0435)				GCCTGCTGTCGCTCCCCGACA	0.657													6	11					0	0	1	0	0	A	44223451	G	A	44223451	2	1	52	1	0	0	0	0	0	0	0	1	7882	1074	38	1		1	IRGC	19	44223451	Silent	SNP	G	TCGA-DB-A75M-01A-11D-A32B-08		44223451	14905532	23	2276											
PROCR	10544	broad.mit.edu	37	20	33764557	33764557	+	Missense_Mutation	SNP	T	T	C			TCGA-DB-A75M-01A-11D-A32B-08	TCGA-DB-A75M-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f0261e0-ff3e-4bd6-bb8d-914187a67923	10dda1e2-c52b-4495-b0a4-150c7de6f1b4	g.chr20:33764557T>C	ENST00000216968.4	+	4	740	c.658T>C	c.(658-660)Ttc>Ctc	p.F220L	EDEM2_ENST00000540582.1_Intron	NM_006404.3	NP_006395.2	Q9UNN8	EPCR_HUMAN	protein C receptor, endothelial	220					antigen processing and presentation|blood coagulation|immune response	integral to plasma membrane|MHC class I protein complex	receptor activity			breast(1)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	10			BRCA - Breast invasive adenocarcinoma(18;0.0152)		Drotrecogin alfa(DB00055)	GGTGGGCAGTTTCATCATTGC	0.567													7	7					0	0	1	0	0	C	33764557	T	C	33764557	3	2	52	1	0	0	0	0	1	0	0	0	12599	1841	64	3	672	3	PROCR	20	33764557	Missense_Mutation	SNP	T	TCGA-DB-A75M-01A-11D-A32B-08		33764557	29260963	24	2277											
ATRX	546	broad.mit.edu	37	X	76939652	76939652	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DB-A75M-01A-11D-A32B-08	TCGA-DB-A75M-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f0261e0-ff3e-4bd6-bb8d-914187a67923	10dda1e2-c52b-4495-b0a4-150c7de6f1b4	g.chrX:76939652delT	ENST00000373344.5	-	9	1310	c.1096delA	c.(1096-1098)atgfs	p.M366fs	ATRX_ENST00000395603.3_Frame_Shift_Del_p.M328fs|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	366					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)	CTGGAGTTCATGTTGGCTGTG	0.373			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						62	13	---	---	---	---						-	76939652	T	-	76939652	7	5	52	1	0	1	0	1	0	0	0	0	1206	1464	51	0	6490	0	ATRX	23	76939652	Frame_Shift_Del	DEL	T	TCGA-DB-A75M-01A-11D-A32B-08		76939652	78330908	25	2278											
ATP7A	538	broad.mit.edu	37	X	77266953	77266953	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A75M-01A-11D-A32B-08	TCGA-DB-A75M-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f0261e0-ff3e-4bd6-bb8d-914187a67923	10dda1e2-c52b-4495-b0a4-150c7de6f1b4	g.chrX:77266953C>T	ENST00000341514.6	+	9	2109	c.1954C>T	c.(1954-1956)Cgg>Tgg	p.R652W	ATP7A_ENST00000343533.5_Missense_Mutation_p.R652W|ATP7A_ENST00000350425.4_Intron	NM_000052.5	NP_000043.4	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	652					ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53						AAGATGGAGACGGTCTTTTCT	0.343													9	66					0	0	1	0	0	T	77266953	C	T	77266953	3	4	52	1	0	0	0	0	1	0	0	0	1188	527	19	1	1984	1	ATP7A	23	77266953	Missense_Mutation	SNP	C	TCGA-DB-A75M-01A-11D-A32B-08	327301	77266953	78003607	26	2279											
TCEAL1	9338	broad.mit.edu	37	X	102885053	102885053	+	Missense_Mutation	SNP	A	A	G			TCGA-DB-A75M-01A-11D-A32B-08	TCGA-DB-A75M-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f0261e0-ff3e-4bd6-bb8d-914187a67923	10dda1e2-c52b-4495-b0a4-150c7de6f1b4	g.chrX:102885053A>G	ENST00000372625.3	+	3	373	c.209A>G	c.(208-210)cAg>cGg	p.Q70R	TCEAL1_ENST00000372626.3_Missense_Mutation_p.Q70R|TCEAL1_ENST00000372624.3_Missense_Mutation_p.Q70R|TCEAL1_ENST00000469820.1_3'UTR	NM_001006639.1|NM_004780.2	NP_001006640.1|NP_004771.2	Q15170	TCAL1_HUMAN	transcription elongation factor A (SII)-like 1	68	Arg/Ser-rich.				negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity			ovary(1)	1						CGCCCTCCGCAGGAGGGTCTT	0.572													26	7					0	0	1	0	0	G	102885053	A	G	102885053	3	3	52	1	0	0	0	0	1	0	0	0	15730	188	7	3	211	3	TCEAL1	23	102885053	Missense_Mutation	SNP	A	TCGA-DB-A75M-01A-11D-A32B-08	25618100	102885053	52385507	27	2280											
CLCNKA	1187	broad.mit.edu	37	1	16359720	16359720	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A75O-01A-11D-A32B-08	TCGA-DB-A75O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e96e37-0f23-40b7-8277-527e8d8f0b76	b058749c-362f-4a5f-b0f7-4ab4ec256649	g.chr1:16359720G>A	ENST00000375692.1	+	20	2110	c.1982G>A	c.(1981-1983)gGc>gAc	p.G661D	CLCNKA_ENST00000331433.4_Missense_Mutation_p.G662D|CLCNKA_ENST00000420078.1_Missense_Mutation_p.G661D|CLCNKA_ENST00000464764.1_3'UTR|CLCNKA_ENST00000439316.2_Missense_Mutation_p.G619D			P51800	CLCKA_HUMAN	chloride channel, voltage-sensitive Ka	662	CBS 2.				excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity	p.G662V(1)		breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1)	19		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	Niflumic Acid(DB04552)	ACATCGCGGGGCAGAGCTGTG	0.607											OREG0013132	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	231					0	0	1	0	0	A	16359720	G	A	16359720	3	1	53	1	0	0	0	0	1	0	0	0	3492	1203	42	2	2055	2	CLCNKA	1	16359720	Missense_Mutation	SNP	G	TCGA-DB-A75O-01A-11D-A32B-08		16359720	232890901	1	2281											
ZFYVE9	9372	broad.mit.edu	37	1	52704261	52704261	+	Missense_Mutation	SNP	A	A	G			TCGA-DB-A75O-01A-11D-A32B-08	TCGA-DB-A75O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e96e37-0f23-40b7-8277-527e8d8f0b76	b058749c-362f-4a5f-b0f7-4ab4ec256649	g.chr1:52704261A>G	ENST00000287727.3	+	4	1344	c.1172A>G	c.(1171-1173)gAg>gGg	p.E391G	ZFYVE9_ENST00000371591.1_Missense_Mutation_p.E391G|ZFYVE9_ENST00000357206.2_Missense_Mutation_p.E391G			O95405	ZFYV9_HUMAN	zinc finger, FYVE domain containing 9	391					endocytosis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway	early endosome membrane	metal ion binding|protein binding|receptor activity|serine-type peptidase activity			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	53						AATATGACAGAGCATTTCTCT	0.363													15	83					0	0	1	0	0	G	52704261	A	G	52704261	3	3	53	1	0	0	0	0	1	0	0	0	17729	304	11	3	1178	3	ZFYVE9	1	52704261	Missense_Mutation	SNP	A	TCGA-DB-A75O-01A-11D-A32B-08	36344541	52704261	196546360	2	2282											
USP24	23358	broad.mit.edu	37	1	55598323	55598323	+	Silent	SNP	C	C	A			TCGA-DB-A75O-01A-11D-A32B-08	TCGA-DB-A75O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e96e37-0f23-40b7-8277-527e8d8f0b76	b058749c-362f-4a5f-b0f7-4ab4ec256649	g.chr1:55598323C>A	ENST00000294383.6	-	31	3431	c.3432G>T	c.(3430-3432)ctG>ctT	p.L1144L	USP24_ENST00000407756.1_Silent_p.L984L	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN	ubiquitin specific peptidase 24	1144	Ser-rich.				ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						GCTTTGATGACAGGGATGGAG	0.393													3	40					0.004672	0.00511	1	1	0	A	55598323	C	A	55598323	2	1	53	1	0	0	0	0	0	0	0	1	17115	465	17	5		5	USP24	1	55598323	Silent	SNP	C	TCGA-DB-A75O-01A-11D-A32B-08	2894062	55598323	193652298	3	2283											
LRRC8C	84230	broad.mit.edu	37	1	90178874	90178874	+	Missense_Mutation	SNP	A	A	G			TCGA-DB-A75O-01A-11D-A32B-08	TCGA-DB-A75O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e96e37-0f23-40b7-8277-527e8d8f0b76	b058749c-362f-4a5f-b0f7-4ab4ec256649	g.chr1:90178874A>G	ENST00000370454.4	+	3	1000	c.745A>G	c.(745-747)Agg>Ggg	p.R249G	LRRC8C_ENST00000479252.1_Intron|RP11-302M6.4_ENST00000370453.5_Intron	NM_032270.4	NP_115646	Q8TDW0	LRC8C_HUMAN	leucine rich repeat containing 8 family, member C	249						endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	28		all_lung(203;0.126)		all cancers(265;0.00756)|Epithelial(280;0.0313)		GAAGAAGTTCAGGCTGCATGT	0.403													4	96					0	0	1	0	0	G	90178874	A	G	90178874	3	3	53	1	0	0	0	0	1	0	0	0	9068	179	7	3	751	3	LRRC8C	1	90178874	Missense_Mutation	SNP	A	TCGA-DB-A75O-01A-11D-A32B-08	34580551	90178874	159071747	4	2284											
LRRTM1	347730	broad.mit.edu	37	2	80530285	80530285	+	Missense_Mutation	SNP	G	G	C			TCGA-DB-A75O-01A-11D-A32B-08	TCGA-DB-A75O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e96e37-0f23-40b7-8277-527e8d8f0b76	b058749c-362f-4a5f-b0f7-4ab4ec256649	g.chr2:80530285G>C	ENST00000295057.3	-	2	1316	c.660C>G	c.(658-660)gaC>gaG	p.D220E	CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000541047.1_Intron|LRRTM1_ENST00000409148.1_Missense_Mutation_p.D220E|CTNNA2_ENST00000540488.1_Intron	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	220						axon|endoplasmic reticulum membrane|growth cone|integral to membrane				NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						CCTTGACCAAGTCGTTGTGCT	0.572										HNSCC(69;0.2)			11	124					0	0	1	0	0	C	80530285	G	C	80530285	3	2	53	1	0	0	0	0	1	0	0	0	9084	1020	36	4	912	4	LRRTM1	2	80530285	Missense_Mutation	SNP	G	TCGA-DB-A75O-01A-11D-A32B-08		80530285	162669088	5	2285											
TTN	7273	broad.mit.edu	37	2	179470238	179470238	+	Missense_Mutation	SNP	A	A	T			TCGA-DB-A75O-01A-11D-A32B-08	TCGA-DB-A75O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e96e37-0f23-40b7-8277-527e8d8f0b76	b058749c-362f-4a5f-b0f7-4ab4ec256649	g.chr2:179470238A>T	ENST00000589042.1	-	279	54008	c.53784T>A	c.(53782-53784)gaT>gaA	p.D17928E	TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D9055E|TTN_ENST00000591111.1_Missense_Mutation_p.D16287E|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D8988E|TTN_ENST00000460472.2_Missense_Mutation_p.D8863E|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D15360E|TTN-AS1_ENST00000589830.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	16287	Fibronectin type-III 29.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTGGTGTTCATCAAGATTTT	0.393													17	114					0	0	1	0	0	T	179470238	A	T	179470238	3	4	53	1	0	0	0	0	1	0	0	0	16797	214	8	4	54245	4	TTN	2	179470238	Missense_Mutation	SNP	A	TCGA-DB-A75O-01A-11D-A32B-08	98939953	179470238	63729135	6	2286											
ZDBF2	57683	broad.mit.edu	37	2	207171520	207171520	+	Silent	SNP	G	G	A			TCGA-DB-A75O-01A-11D-A32B-08	TCGA-DB-A75O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e96e37-0f23-40b7-8277-527e8d8f0b76	b058749c-362f-4a5f-b0f7-4ab4ec256649	g.chr2:207171520G>A	ENST00000374423.3	+	5	2654	c.2268G>A	c.(2266-2268)ccG>ccA	p.P756P		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	756							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						ATTCTGACCCGCCTCTTCTGT	0.418													4	197					0	0	1	0	0	A	207171520	G	A	207171520	2	1	53	1	0	0	0	0	0	0	0	1	17657	1074	38	1		1	ZDBF2	2	207171520	Silent	SNP	G	TCGA-DB-A75O-01A-11D-A32B-08	27701282	207171520	36027853	7	2287											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-DB-A75O-01A-11D-A32B-08	TCGA-DB-A75O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e96e37-0f23-40b7-8277-527e8d8f0b76	b058749c-362f-4a5f-b0f7-4ab4ec256649	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	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								28	49					0	0	1	0	0	T	209113112	C	T	209113112	3	4	53	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-DB-A75O-01A-11D-A32B-08	1941592	209113112	34086261	8	2288											
KIF15	56992	broad.mit.edu	37	3	44853776	44853776	+	Missense_Mutation	SNP	C	C	A			TCGA-DB-A75O-01A-11D-A32B-08	TCGA-DB-A75O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e96e37-0f23-40b7-8277-527e8d8f0b76	b058749c-362f-4a5f-b0f7-4ab4ec256649	g.chr3:44853776C>A	ENST00000326047.4	+	18	2421	c.2272C>A	c.(2272-2274)Cag>Aag	p.Q758K	KIF15_ENST00000425755.1_Missense_Mutation_p.Q393K	NM_020242.2	NP_064627.1	Q9NS87	KIF15_HUMAN	kinesin family member 15	758					blood coagulation|cell proliferation|microtubule-based movement|mitosis	centrosome|cytosol|microtubule|plus-end kinesin complex|spindle	ATP binding|DNA binding|microtubule motor activity			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(5)	36				BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707)		TACCCAAATGCAGGAGGTGAG	0.423													3	39					1	1	1	1	0	A	44853776	C	A	44853776	3	1	53	1	0	0	0	0	1	0	0	0	8319	711	25	5	2342	5	KIF15	3	44853776	Missense_Mutation	SNP	C	TCGA-DB-A75O-01A-11D-A32B-08		44853776	153168654	9	2289											
TBC1D1	23216	broad.mit.edu	37	4	38020014	38020014	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DB-A75O-01A-11D-A32B-08	TCGA-DB-A75O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e96e37-0f23-40b7-8277-527e8d8f0b76	b058749c-362f-4a5f-b0f7-4ab4ec256649	g.chr4:38020014delA	ENST00000261439.4	+	4	1277	c.922delA	c.(922-924)aaafs	p.K309fs	TBC1D1_ENST00000508802.1_Frame_Shift_Del_p.K309fs	NM_001253914.1|NM_001253915.1|NM_015173.3	NP_001240843.1|NP_001240844.1|NP_055988.2	Q86TI0	TBCD1_HUMAN	TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1	309	PID.					nucleus	Rab GTPase activator activity			NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						TCCTGACACCAAAAAAATAGC	0.313													7	122	---	---	---	---						-	38020014	A	-	38020014	7	5	53	1	0	1	0	1	0	0	0	0	15654	131	5	0	932	0	TBC1D1	4	38020014	Frame_Shift_Del	DEL	A	TCGA-DB-A75O-01A-11D-A32B-08		38020014	153134262	10	2290											
C7orf63	79846	broad.mit.edu	37	7	89874847	89874847	+	Missense_Mutation	SNP	G	G	T			TCGA-DB-A75O-01A-11D-A32B-08	TCGA-DB-A75O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e96e37-0f23-40b7-8277-527e8d8f0b76	b058749c-362f-4a5f-b0f7-4ab4ec256649	g.chr7:89874847G>T	ENST00000389297.4	+	1	360	c.109G>T	c.(109-111)Gat>Tat	p.D37Y	C7orf63_ENST00000497910.1_Missense_Mutation_p.D37Y|C7orf63_ENST00000463311.1_3'UTR|C7orf63_ENST00000316089.8_Missense_Mutation_p.D37Y	NM_001039706.2|NM_001160138.1	NP_001034795.2|NP_001153610.1	A5D8W1	CG063_HUMAN	chromosome 7 open reading frame 63	37							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|prostate(3)	37						GACGGAGGACGATGAGGCGCA	0.627													4	173					0.00116845	0.00131921	1	1	0	T	89874847	G	T	89874847	3	4	53	1	0	0	0	0	1	0	0	0	2425	1058	37	5	111	5	C7orf63	7	89874847	Missense_Mutation	SNP	G	TCGA-DB-A75O-01A-11D-A32B-08		89874847	69263816	11	2291											
AGAP3	116988	broad.mit.edu	37	7	150815375	150815375	+	Missense_Mutation	SNP	C	C	A			TCGA-DB-A75O-01A-11D-A32B-08	TCGA-DB-A75O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e96e37-0f23-40b7-8277-527e8d8f0b76	b058749c-362f-4a5f-b0f7-4ab4ec256649	g.chr7:150815375C>A	ENST00000397238.2	+	6	785	c.785C>A	c.(784-786)aCc>aAc	p.T262N	AGAP3_ENST00000335367.3_Missense_Mutation_p.T442N|AGAP3_ENST00000463381.1_Missense_Mutation_p.T34N|AGAP3_ENST00000479901.1_Missense_Mutation_p.T262N|AGAP3_ENST00000473312.1_Missense_Mutation_p.T262N|AGAP3_ENST00000476375.1_3'UTR	NM_031946.4	NP_114152.3	Q96P47	AGAP3_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 3	226	Small GTPase-like.				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm|membrane	ARF GTPase activator activity|GTP binding|GTPase activity|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1)	28						AAGCGGTGCACCTACTATGAG	0.642													33	94					4.34311e-12	5.24168e-12	1	1	0	A	150815375	C	A	150815375	3	1	53	1	0	0	0	0	1	0	0	0	368	507	18	5	807	5	AGAP3	7	150815375	Missense_Mutation	SNP	C	TCGA-DB-A75O-01A-11D-A32B-08	60940528	150815375	8323288	12	2292											
RP1	6101	broad.mit.edu	37	8	55541829	55541829	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A75O-01A-11D-A32B-08	TCGA-DB-A75O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e96e37-0f23-40b7-8277-527e8d8f0b76	b058749c-362f-4a5f-b0f7-4ab4ec256649	g.chr8:55541829C>T	ENST00000220676.1	+	4	5535	c.5387C>T	c.(5386-5388)aCg>aTg	p.T1796M		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1796					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	p.T1796M(1)		NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			CCAGGCCCAACGATGGATGAA	0.448													8	12					0	0	1	0	0	T	55541829	C	T	55541829	3	4	53	1	0	0	0	0	1	0	0	0	13584	536	19	1	5397	1	RP1	8	55541829	Missense_Mutation	SNP	C	TCGA-DB-A75O-01A-11D-A32B-08		55541829	90822193	13	2293											
PAG1	55824	broad.mit.edu	37	8	81897059	81897059	+	Silent	SNP	C	C	T			TCGA-DB-A75O-01A-11D-A32B-08	TCGA-DB-A75O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e96e37-0f23-40b7-8277-527e8d8f0b76	b058749c-362f-4a5f-b0f7-4ab4ec256649	g.chr8:81897059C>T	ENST00000220597.4	-	7	1538	c.828G>A	c.(826-828)ggG>ggA	p.G276G		NM_018440.3	NP_060910.3	Q9NWQ8	PAG1_HUMAN	phosphoprotein associated with glycosphingolipid microdomains 1	276					epidermal growth factor receptor signaling pathway|intracellular signal transduction|T cell receptor signaling pathway	integral to membrane|intracellular|membrane raft|plasma membrane	SH2 domain binding|SH3/SH2 adaptor activity			breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(2)	11	Lung NSC(7;5.76e-06)|all_lung(9;2e-05)		BRCA - Breast invasive adenocarcinoma(6;0.0567)|Epithelial(68;0.0634)|all cancers(69;0.197)			CCGCCTCTCCCCCTTCCTTCT	0.502													5	107					0	0	1	0	0	T	81897059	C	T	81897059	2	4	53	1	0	0	0	0	0	0	0	1	11435	610	22	2		2	PAG1	8	81897059	Silent	SNP	C	TCGA-DB-A75O-01A-11D-A32B-08	26355230	81897059	64466963	14	2294											
OR5M10	390167	broad.mit.edu	37	11	56344882	56344882	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A75O-01A-11D-A32B-08	TCGA-DB-A75O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e96e37-0f23-40b7-8277-527e8d8f0b76	b058749c-362f-4a5f-b0f7-4ab4ec256649	g.chr11:56344882C>T	ENST00000526812.2	-	1	381	c.316G>A	c.(316-318)Gcc>Acc	p.A106T		NM_001004741.1	NP_001004741.1	Q6IEU7	OR5MA_HUMAN	olfactory receptor, family 5, subfamily M, member 10	106					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(2)	25						ATCACTAGGGCGATGAAGAGA	0.438													14	61					0	0	1	0	0	T	56344882	C	T	56344882	3	4	53	1	0	0	0	0	1	0	0	0	11220	768	27	1	635	1	OR5M10	11	56344882	Missense_Mutation	SNP	C	TCGA-DB-A75O-01A-11D-A32B-08		56344882	78661634	15	2295											
FADS3	3995	broad.mit.edu	37	11	61644404	61644404	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A75O-01A-11D-A32B-08	TCGA-DB-A75O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e96e37-0f23-40b7-8277-527e8d8f0b76	b058749c-362f-4a5f-b0f7-4ab4ec256649	g.chr11:61644404C>T	ENST00000540820.1	-	8	989	c.917G>A	c.(916-918)cGc>cAc	p.R306H	FADS3_ENST00000527697.1_Missense_Mutation_p.R182H|FADS3_ENST00000525588.1_Missense_Mutation_p.R278H|FADS3_ENST00000278829.2_Missense_Mutation_p.R306H			Q9Y5Q0	FADS3_HUMAN	fatty acid desaturase 3	306					electron transport chain|transport|unsaturated fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|membrane fraction	heme binding|oxidoreductase activity, acting on paired donors, with oxidation of a pair of donors resulting in the reduction of molecular oxygen to two molecules of water			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						TAAGAAGAAGCGGGCATAGAA	0.622													3	5					0	0	1	0	0	T	61644404	C	T	61644404	3	4	53	1	0	0	0	0	1	0	0	0	5398	768	27	1	440	1	FADS3	11	61644404	Missense_Mutation	SNP	C	TCGA-DB-A75O-01A-11D-A32B-08	5299522	61644404	73362112	16	2296											
NALCN	259232	broad.mit.edu	37	13	101797192	101797192	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A75O-01A-11D-A32B-08	TCGA-DB-A75O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e96e37-0f23-40b7-8277-527e8d8f0b76	b058749c-362f-4a5f-b0f7-4ab4ec256649	g.chr13:101797192C>T	ENST00000251127.6	-	16	1976	c.1895G>A	c.(1894-1896)cGa>cAa	p.R632Q		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	632						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TTCAAAGATTCGCAGGCGTAA	0.348													89	187					0	0	1	0	0	T	101797192	C	T	101797192	3	4	53	1	0	0	0	0	1	0	0	0	10196	884	31	1	3437	1	NALCN	13	101797192	Missense_Mutation	SNP	C	TCGA-DB-A75O-01A-11D-A32B-08		101797192	13372686	17	2297											
TRPM7	54822	broad.mit.edu	37	15	50886773	50886773	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A75O-01A-11D-A32B-08	TCGA-DB-A75O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e96e37-0f23-40b7-8277-527e8d8f0b76	b058749c-362f-4a5f-b0f7-4ab4ec256649	g.chr15:50886773C>T	ENST00000313478.7	-	24	3609	c.3328G>A	c.(3328-3330)Gta>Ata	p.V1110I	TRPM7_ENST00000560955.1_Missense_Mutation_p.V1110I	NM_017672.4	NP_060142.3	Q96QT4	TRPM7_HUMAN	transient receptor potential cation channel, subfamily M, member 7	1110					cell death	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3)	52				all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)		TACTTCCATACAATATTGGAA	0.299													14	19					0	0	1	0	0	T	50886773	C	T	50886773	3	4	53	1	0	0	0	0	1	0	0	0	16652	478	17	2	2333	2	TRPM7	15	50886773	Missense_Mutation	SNP	C	TCGA-DB-A75O-01A-11D-A32B-08		50886773	51644619	18	2298											
TCF12	6938	broad.mit.edu	37	15	57523450	57523451	+	Frame_Shift_Ins	INS	-	-	GCAA			TCGA-DB-A75O-01A-11D-A32B-08	TCGA-DB-A75O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e96e37-0f23-40b7-8277-527e8d8f0b76	b058749c-362f-4a5f-b0f7-4ab4ec256649	g.chr15:57523450_57523451insGCAA	ENST00000267811.5	+	9	984_985	c.680_681insGCAA	c.(679-684)atgcaafs	p.-228fs	TCF12_ENST00000438423.2_Frame_Shift_Ins_p.-228fs|TCF12_ENST00000452095.2_Frame_Shift_Ins_p.-224fs|TCF12_ENST00000333725.5_Frame_Shift_Ins_p.-228fs|TCF12_ENST00000557843.1_Frame_Shift_Ins_p.-228fs|TCF12_ENST00000543579.1_Frame_Shift_Ins_p.-58fs|TCF12_ENST00000537840.1_Frame_Shift_Ins_p.-39fs|TCF12_ENST00000560764.1_3'UTR|TCF12_ENST00000343827.3_Frame_Shift_Ins_p.-58fs	NM_003205.3|NM_207038.1	NP_003196.1|NP_996921.1	Q99081	HTF4_HUMAN	transcription factor 12						immune response|muscle organ development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity		TCF12/NR4A3(2)	breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	36		Colorectal(260;0.0907)		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)		ACTTTCTTTATGCAAGGTAAGT	0.386			T	TEC	extraskeletal myxoid chondrosarcoma								52	129	---	---	---	---						GCAA	57523451	-	GCAA	57523450	7	5	53	1	0	1	1	0	0	0	0	0	15747	1464	51	0	783	0	TCF12	15	57523450	Frame_Shift_Ins	INS	-	TCGA-DB-A75O-01A-11D-A32B-08	6636677	57523450	45007942	19	2299											
ITFG3	83986	broad.mit.edu	37	16	312148	312148	+	Silent	SNP	C	C	T			TCGA-DB-A75O-01A-11D-A32B-08	TCGA-DB-A75O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e96e37-0f23-40b7-8277-527e8d8f0b76	b058749c-362f-4a5f-b0f7-4ab4ec256649	g.chr16:312148C>T	ENST00000399932.3	+	7	1216	c.765C>T	c.(763-765)agC>agT	p.S255S	ITFG3_ENST00000450082.2_Silent_p.S255S|ITFG3_ENST00000600536.1_Silent_p.S255S|ITFG3_ENST00000301678.3_Silent_p.S255S|ITFG3_ENST00000442458.2_Silent_p.S255S|ITFG3_ENST00000301679.2_Silent_p.S255S	NM_001284497.1	NP_001271426.1	Q9H0X4	ITFG3_HUMAN	integrin alpha FG-GAP repeat containing 3	255						integral to membrane				central_nervous_system(3)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16		all_cancers(16;0.000129)|all_epithelial(16;0.000206)|Hepatocellular(16;0.00264)|Lung NSC(18;0.0626)|all_lung(18;0.13)				TCAGAGGCAGCCTTGGTGTGG	0.587													17	33					0	0	1	0	0	T	312148	C	T	312148	2	4	53	1	0	0	0	0	0	0	0	1	7915	738	26	2		2	ITFG3	16	312148	Silent	SNP	C	TCGA-DB-A75O-01A-11D-A32B-08		312148	90042605	20	2300											
TP53	7157	broad.mit.edu	37	17	7579323	7579324	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DB-A75O-01A-11D-A32B-08	TCGA-DB-A75O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e96e37-0f23-40b7-8277-527e8d8f0b76	b058749c-362f-4a5f-b0f7-4ab4ec256649	g.chr17:7579323_7579324insA	ENST00000420246.2	-	4	495_496	c.363_364insT	c.(361-366)tctgtgfs	p.V122fs	TP53_ENST00000359597.4_Frame_Shift_Ins_p.V122fs|TP53_ENST00000455263.2_Frame_Shift_Ins_p.V122fs|TP53_ENST00000269305.4_Frame_Shift_Ins_p.V122fs|TP53_ENST00000445888.2_Frame_Shift_Ins_p.V122fs|TP53_ENST00000413465.2_Frame_Shift_Ins_p.V122fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	122	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		V -> L (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.0?(8)|p.G59fs*23(3)|p.S121fs*27(1)|p.V73fs*9(1)|p.G105_T125del21(1)|p.G112_V122delGFLHSGTAKSV(1)|p.V122fs*46(1)|p.Y107fs*44(1)|p.V122L(1)|p.P13fs*18(1)|p.S33fs*23(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)		GTGCAAGTCACAGACTTGGCTG	0.559		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)			68	33	---	---	---	---						A	7579324	-	A	7579323	7	5	53	1	0	1	1	0	0	0	0	0	16442	478	17	0	938	0	TP53	17	7579323	Frame_Shift_Ins	INS	-	TCGA-DB-A75O-01A-11D-A32B-08		7579323	73615887	21	2301											
PSMG1	8624	broad.mit.edu	37	21	40552362	40552362	+	Splice_Site	SNP	G	G	C			TCGA-DB-A75O-01A-11D-A32B-08	TCGA-DB-A75O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e96e37-0f23-40b7-8277-527e8d8f0b76	b058749c-362f-4a5f-b0f7-4ab4ec256649	g.chr21:40552362G>C	ENST00000331573.3	-	3	707	c.242C>G	c.(241-243)gCa>gGa	p.A81G	PSMG1_ENST00000380900.2_Splice_Site_p.A81G	NM_001261824.1|NM_003720.3	NP_001248753.1|NP_003711.1	O95456	PSMG1_HUMAN	proteasome (prosome, macropain) assembly chaperone 1	81					proteasome assembly	endoplasmic reticulum	protein binding			autonomic_ganglia(1)|endometrium(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(2)	8		Prostate(19;8.44e-08)				TGACAGAAATGCTGTAAAAAA	0.358													20	57					0	0	1	0	0	C	40552362	G	C	40552362	5	2	53	1	0	0	0	0	0	0	1	0	12760	1333	46	5	644	5	PSMG1	21	40552362	Splice_Site	SNP	G	TCGA-DB-A75O-01A-11D-A32B-08		40552362	7577533	22	2302											
ATRX	546	broad.mit.edu	37	X	76875970	76875970	+	Missense_Mutation	SNP	T	T	C			TCGA-DB-A75O-01A-11D-A32B-08	TCGA-DB-A75O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e96e37-0f23-40b7-8277-527e8d8f0b76	b058749c-362f-4a5f-b0f7-4ab4ec256649	g.chrX:76875970T>C	ENST00000373344.5	-	20	5379	c.5165A>G	c.(5164-5166)cAt>cGt	p.H1722R	ATRX_ENST00000395603.3_Missense_Mutation_p.H1684R|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1722	Helicase ATP-binding.				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)	TTTTAGAATATGGCCTTCATC	0.294			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						4	7					0	0	1	0	0	C	76875970	T	C	76875970	3	2	53	1	0	0	0	0	1	0	0	0	1206	1464	51	3	2377	3	ATRX	23	76875970	Missense_Mutation	SNP	T	TCGA-DB-A75O-01A-11D-A32B-08		76875970	78394590	23	2303											
MECP2	4204	broad.mit.edu	37	X	153363105	153363105	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DB-A75O-01A-11D-A32B-08	TCGA-DB-A75O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e96e37-0f23-40b7-8277-527e8d8f0b76	b058749c-362f-4a5f-b0f7-4ab4ec256649	g.chrX:153363105delG	ENST00000453960.2	-	1	72	c.18delC	c.(16-18)gccfs	p.A8fs	MECP2_ENST00000407218.1_5'UTR|MECP2_ENST00000303391.6_5'UTR	NM_001110792.1	NP_001104262.1	P51608	MECP2_HUMAN	methyl CpG binding protein 2 (Rett syndrome)	0					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	heterochromatin|nucleus	double-stranded methylated DNA binding|protein domain specific binding|protein N-terminus binding|transcription corepressor activity			breast(2)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|prostate(2)|urinary_tract(1)	23	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TCGGCgcggcggcggcggcgg	0.771													2	4	---	---	---	---						-	153363105	G	-	153363105	7	5	53	1	0	1	0	1	0	0	0	0	9473	1103	39	0	1520	0	MECP2	23	153363105	Frame_Shift_Del	DEL	G	TCGA-DB-A75O-01A-11D-A32B-08	76487135	153363105	1907455	24	2304											
CELF3	11189	broad.mit.edu	37	1	151678723	151678725	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-DB-A75P-01A-11D-A32B-08	TCGA-DB-A75P-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3e439c8-fbfd-43f4-9082-9955c2941eae	17162650-c8fc-48ac-9387-5a715f85e0c5	g.chr1:151678723_151678725delTGC	ENST00000290583.4	-	10	1894_1896	c.1101_1103delGCA	c.(1099-1104)cagcaa>caa	p.367_368QQ>Q	CELF3_ENST00000392706.3_In_Frame_Del_p.162_163QQ>Q|CELF3_ENST00000290585.4_In_Frame_Del_p.317_318QQ>Q|CELF3_ENST00000470688.1_5'UTR|RP11-98D18.1_ENST00000457548.1_RNA	NM_001172648.1|NM_007185.4	NP_001166119.1|NP_009116.3	Q5SZQ8	CELF3_HUMAN	CUGBP, Elav-like family member 3	367	Gln-rich.				nuclear mRNA splicing, via spliceosome|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	mRNA binding|nucleotide binding	p.Q367Q(1)		central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)	21						ctgctgctgttgctgctgctgct	0.66													2	4	---	---	---	---						-	151678725	TGC	-	151678723	7	5	54	1	0	1	0	1	0	0	0	0	3239	1812	63	0	306	0	CELF3	1	151678723	In_Frame_Del	DEL	TGC	TCGA-DB-A75P-01A-11D-A32B-08		151678723	97571898	1	2305											
ZNF608	57507	broad.mit.edu	37	5	124079813	124079815	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-DB-A75P-01A-11D-A32B-08	TCGA-DB-A75P-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3e439c8-fbfd-43f4-9082-9955c2941eae	17162650-c8fc-48ac-9387-5a715f85e0c5	g.chr5:124079813_124079815delCTC	ENST00000306315.5	-	1	1303_1305	c.868_870delGAG	c.(868-870)gagdel	p.E290del	ZNF608_ENST00000504926.1_Intron	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	290						intracellular	zinc ion binding			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		GCCTGTGGCTCTCCTCCTCCTCC	0.522													7	249	---	---	---	---						-	124079815	CTC	-	124079813	7	5	54	1	0	1	0	1	0	0	0	0	18091	912	32	0	3704	0	ZNF608	5	124079813	In_Frame_Del	DEL	CTC	TCGA-DB-A75P-01A-11D-A32B-08		124079813	56835447	2	2306											
LRFN2	57497	broad.mit.edu	37	6	40399771	40399771	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A75P-01A-11D-A32B-08	TCGA-DB-A75P-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3e439c8-fbfd-43f4-9082-9955c2941eae	17162650-c8fc-48ac-9387-5a715f85e0c5	g.chr6:40399771G>A	ENST00000338305.6	-	2	1624	c.1082C>T	c.(1081-1083)gCt>gTt	p.A361V		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2	361	Ig-like.					cell junction|integral to membrane|postsynaptic membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					AGCATTGGCAGCAATGCAGGT	0.607													3	37					0	0	1	0	0	A	40399771	G	A	40399771	3	1	54	1	0	0	0	0	1	0	0	0	8983	971	34	2	1295	2	LRFN2	6	40399771	Missense_Mutation	SNP	G	TCGA-DB-A75P-01A-11D-A32B-08		40399771	130715296	3	2307											
RELN	5649	broad.mit.edu	37	7	103141235	103141235	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A75P-01A-11D-A32B-08	TCGA-DB-A75P-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3e439c8-fbfd-43f4-9082-9955c2941eae	17162650-c8fc-48ac-9387-5a715f85e0c5	g.chr7:103141235G>A	ENST00000424685.2	-	53	8783	c.8624C>T	c.(8623-8625)cCg>cTg	p.P2875L	CTB-107G13.1_ENST00000422488.1_RNA|RELN_ENST00000343529.5_Missense_Mutation_p.P2875L|RELN_ENST00000428762.1_Missense_Mutation_p.P2875L			P78509	RELN_HUMAN	reelin	2875	EGF-like 7.				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	p.P2875L(1)		NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		TGAGTATCCCGGATCACAGAT	0.517													16	63					0	0	1	0	0	A	103141235	G	A	103141235	3	1	54	1	0	0	0	0	1	0	0	0	13272	1116	39	1	1810	1	RELN	7	103141235	Missense_Mutation	SNP	G	TCGA-DB-A75P-01A-11D-A32B-08		103141235	55997428	4	2308											
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377		TCGA-DB-A75P-01A-11D-A32B-08	TCGA-DB-A75P-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3e439c8-fbfd-43f4-9082-9955c2941eae	17162650-c8fc-48ac-9387-5a715f85e0c5	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				14	46					0	0	1	0	0	T	140453136	A	T	140453136	3	4	54	1	0	0	0	0	1	0	0	0	1498	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-DB-A75P-01A-11D-A32B-08	37311901	140453136	18685527	5	2309											
EYA1	2138	broad.mit.edu	37	8	72211442	72211442	+	Silent	SNP	G	G	A			TCGA-DB-A75P-01A-11D-A32B-08	TCGA-DB-A75P-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3e439c8-fbfd-43f4-9082-9955c2941eae	17162650-c8fc-48ac-9387-5a715f85e0c5	g.chr8:72211442G>A	ENST00000340726.3	-	9	1305	c.666C>T	c.(664-666)ggC>ggT	p.G222G	EYA1_ENST00000388740.3_Silent_p.G189G|EYA1_ENST00000419131.1_Silent_p.G217G|EYA1_ENST00000388743.2_Silent_p.G221G|EYA1_ENST00000303824.7_Silent_p.G216G|EYA1_ENST00000388742.4_Silent_p.G222G|EYA1_ENST00000388741.2_Silent_p.G188G	NM_000503.4	NP_000494.2	Q99502	EYA1_HUMAN	eyes absent homolog 1 (Drosophila)	222					double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			ACTGACCCTGGCCAAAACTGG	0.443													3	59					0	0	1	0	0	A	72211442	G	A	72211442	2	1	54	1	0	0	0	0	0	0	0	1	5356	1190	42	2		2	EYA1	8	72211442	Silent	SNP	G	TCGA-DB-A75P-01A-11D-A32B-08		72211442	74152580	6	2310											
ATP2A3	489	broad.mit.edu	37	17	3844559	3844559	+	Silent	SNP	C	C	A			TCGA-DB-A75P-01A-11D-A32B-08	TCGA-DB-A75P-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3e439c8-fbfd-43f4-9082-9955c2941eae	17162650-c8fc-48ac-9387-5a715f85e0c5	g.chr17:3844559C>A	ENST00000309890.7	-	14	1956	c.1806G>T	c.(1804-1806)ccG>ccT	p.P602P	ATP2A3_ENST00000397041.3_Silent_p.P602P|ATP2A3_ENST00000397035.3_Silent_p.P602P|ATP2A3_ENST00000352011.3_Silent_p.P602P|ATP2A3_ENST00000397043.3_Silent_p.P602P|ATP2A3_ENST00000397039.1_5'UTR|ATP2A3_ENST00000359983.3_Silent_p.P602P	NM_174953.2|NM_174954.2|NM_174955.2|NM_174956.2	NP_777613.1|NP_777614.1|NP_777615.1|NP_777616.1	Q93084	AT2A3_HUMAN	ATPase, Ca++ transporting, ubiquitous	602					ATP biosynthetic process|platelet activation	integral to membrane|nuclear membrane|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	36				LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)		CAGGTCGCGGCGGGTCCAGCA	0.647													3	46					0.150653	0.150653	1	1	0	A	3844559	C	A	3844559	2	1	54	1	0	0	0	0	0	0	0	1	1137	755	27	5		5	ATP2A3	17	3844559	Silent	SNP	C	TCGA-DB-A75P-01A-11D-A32B-08		3844559	77350651	7	2311											
CNGA2	1260	broad.mit.edu	37	X	150912423	150912423	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A75P-01A-11D-A32B-08	TCGA-DB-A75P-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3e439c8-fbfd-43f4-9082-9955c2941eae	17162650-c8fc-48ac-9387-5a715f85e0c5	g.chrX:150912423G>A	ENST00000329903.4	+	6	1481	c.1448G>A	c.(1447-1449)cGc>cAc	p.R483H		NM_005140.1	NP_005131.1	Q16280	CNGA2_HUMAN	cyclic nucleotide gated channel alpha 2	483					response to stimulus|sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2)	49	Acute lymphoblastic leukemia(192;6.56e-05)					tacatttgccgcaaaggggac	0.527													4	80					0	0	1	0	0	A	150912423	G	A	150912423	3	1	54	1	0	0	0	0	1	0	0	0	3620	1087	38	1	1470	1	CNGA2	23	150912423	Missense_Mutation	SNP	G	TCGA-DB-A75P-01A-11D-A32B-08		150912423	4358137	8	2312											
LPHN2	23266	broad.mit.edu	37	1	82456736	82456736	+	Silent	SNP	T	T	C			TCGA-DH-5140-01A-01D-1468-08	TCGA-DH-5140-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4472483c-47e2-47f0-b02f-6a8cb4c7bd96	310c380c-c166-4480-ae74-62a9ff686291	g.chr1:82456736T>C	ENST00000370728.1	+	25	4932	c.4287T>C	c.(4285-4287)aaT>aaC	p.N1429N	LPHN2_ENST00000370725.1_Silent_p.N1444N|LPHN2_ENST00000359929.3_Silent_p.N1373N|LPHN2_ENST00000271029.4_Silent_p.N1401N|LPHN2_ENST00000370730.1_Silent_p.N1386N|LPHN2_ENST00000394879.1_Silent_p.N1431N|LPHN2_ENST00000319517.6_Silent_p.N1373N|LPHN2_ENST00000370713.1_3'UTR|LPHN2_ENST00000469377.2_3'UTR|LPHN2_ENST00000370723.1_Silent_p.N1431N|LPHN2_ENST00000370717.2_Silent_p.N1444N|LPHN2_ENST00000335786.5_Silent_p.N1386N|LPHN2_ENST00000370727.1_Silent_p.N1401N|LPHN2_ENST00000370715.1_3'UTR|LPHN2_ENST00000370721.1_Silent_p.N1354N			O95490	LPHN2_HUMAN	latrophilin 2	1429					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		gcaggggcaatagtgatggtt	0.428													48	68					0	0	0.048971	0	0	C	82456736	T	C	82456736	2	2	55	1	0	0	0	0	0	0	0	1	8961	1403	49	3		3	LPHN2	1	82456736	Silent	SNP	T	TCGA-DH-5140-01A-01D-1468-08		82456736	166793885	1	2313											
COL11A1	1301	broad.mit.edu	37	1	103491403	103491403	+	Missense_Mutation	SNP	T	T	C			TCGA-DH-5140-01A-01D-1468-08	TCGA-DH-5140-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4472483c-47e2-47f0-b02f-6a8cb4c7bd96	310c380c-c166-4480-ae74-62a9ff686291	g.chr1:103491403T>C	ENST00000358392.2	-	6	1203	c.886A>G	c.(886-888)Aag>Gag	p.K296E	COL11A1_ENST00000370096.3_Intron|COL11A1_ENST00000512756.1_Intron|COL11A1_ENST00000353414.4_Intron	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	297	Nonhelical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		CTTTTCTTCTTCTTGGATGAA	0.363													5	400					0	0	0.021553	0	0	C	103491403	T	C	103491403	3	2	55	1	0	0	0	0	1	0	0	0	3690	1792	62	3	4818	3	COL11A1	1	103491403	Missense_Mutation	SNP	T	TCGA-DH-5140-01A-01D-1468-08	21034667	103491403	145759218	2	2314											
RFWD2	64326	broad.mit.edu	37	1	176132075	176132075	+	Missense_Mutation	SNP	T	T	C			TCGA-DH-5140-01A-01D-1468-08	TCGA-DH-5140-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4472483c-47e2-47f0-b02f-6a8cb4c7bd96	310c380c-c166-4480-ae74-62a9ff686291	g.chr1:176132075T>C	ENST00000367669.3	-	5	1206	c.692A>G	c.(691-693)gAt>gGt	p.D231G	RFWD2_ENST00000308769.8_Missense_Mutation_p.D227G	NM_022457.5	NP_071902.2	Q8NHY2	RFWD2_HUMAN	ring finger and WD repeat domain 2, E3 ubiquitin protein ligase	231					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest	centrosome|cytosol|focal adhesion|nuclear speck	protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						ATCAAGGTTATCTTGGTCAGT	0.358													80	97					0	0	0.048971	0	0	C	176132075	T	C	176132075	3	2	55	1	0	0	0	0	1	0	0	0	13312	1435	50	3	1567	3	RFWD2	1	176132075	Missense_Mutation	SNP	T	TCGA-DH-5140-01A-01D-1468-08	72640672	176132075	73118546	3	2315											
LAMC1	3915	broad.mit.edu	37	1	183091039	183091039	+	Silent	SNP	C	C	T			TCGA-DH-5140-01A-01D-1468-08	TCGA-DH-5140-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4472483c-47e2-47f0-b02f-6a8cb4c7bd96	310c380c-c166-4480-ae74-62a9ff686291	g.chr1:183091039C>T	ENST00000258341.4	+	12	2429	c.2172C>T	c.(2170-2172)tgC>tgT	p.C724C		NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)	724	Laminin EGF-like 6.				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent	p.C724C(1)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GTGTGCTTTGCGCCTGCAATG	0.478													4	103					0	0	0.009096	0	0	T	183091039	C	T	183091039	2	4	55	1	0	0	0	0	0	0	0	1	8653	776	27	1		1	LAMC1	1	183091039	Silent	SNP	C	TCGA-DH-5140-01A-01D-1468-08	6958964	183091039	66159582	4	2316											
KISS1	3814	broad.mit.edu	37	1	204159803	204159803	+	Missense_Mutation	SNP	C	C	G			TCGA-DH-5140-01A-01D-1468-08	TCGA-DH-5140-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4472483c-47e2-47f0-b02f-6a8cb4c7bd96	310c380c-c166-4480-ae74-62a9ff686291	g.chr1:204159803C>G	ENST00000367194.4	-	3	374	c.226G>C	c.(226-228)Gag>Cag	p.E76Q		NM_002256.3	NP_002247.3	Q15726	KISS1_HUMAN	KiSS-1 metastasis-suppressor	76					cytoskeleton organization	extracellular region	protein binding			large_intestine(1)|lung(1)|ovary(1)	3	all_cancers(21;0.0165)|Breast(84;0.179)|all_epithelial(62;0.242)	Breast(1374;9.42e-05)	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.069)|Kidney(21;0.0934)|Epithelial(59;0.239)	Colorectal(1306;0.0129)		CCGGAGCTCTCGGGGGGCGGG	0.756													2	10					0	0	0.004672	0	0	G	204159803	C	G	204159803	3	3	55	1	0	0	0	0	1	0	0	0	8370	893	31	5	194	5	KISS1	1	204159803	Missense_Mutation	SNP	C	TCGA-DH-5140-01A-01D-1468-08	21068764	204159803	45090818	5	2317											
APOB	338	broad.mit.edu	37	2	21228172	21228172	+	Silent	SNP	G	G	A			TCGA-DH-5140-01A-01D-1468-08	TCGA-DH-5140-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4472483c-47e2-47f0-b02f-6a8cb4c7bd96	310c380c-c166-4480-ae74-62a9ff686291	g.chr2:21228172G>A	ENST00000233242.1	-	26	11695	c.11568C>T	c.(11566-11568)atC>atT	p.I3856I		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	3856					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	GCTCAGGCACGATGATGGTGG	0.473													110	119					0	0	0.048971	0	0	A	21228172	G	A	21228172	2	1	55	1	0	0	0	0	0	0	0	1	782	1048	37	1		1	APOB	2	21228172	Silent	SNP	G	TCGA-DH-5140-01A-01D-1468-08		21228172	221971201	6	2318											
IL1R2	7850	broad.mit.edu	37	2	102626194	102626194	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-5140-01A-01D-1468-08	TCGA-DH-5140-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4472483c-47e2-47f0-b02f-6a8cb4c7bd96	310c380c-c166-4480-ae74-62a9ff686291	g.chr2:102626194G>A	ENST00000332549.3	+	3	467	c.238G>A	c.(238-240)Gga>Aga	p.G80R	IL1R2_ENST00000441002.1_Missense_Mutation_p.G80R|IL1R2_ENST00000393414.2_Missense_Mutation_p.G80R	NM_004633.3	NP_004624.1	P27930	IL1R2_HUMAN	interleukin 1 receptor, type II	80	Ig-like C2-type 1.				immune response	integral to membrane|plasma membrane	interleukin-1, Type II, blocking receptor activity			breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)	28					Anakinra(DB00026)	GACGGTCCCAGGAGAAGAAGA	0.592													13	546					0	0	0.105934	0	0	A	102626194	G	A	102626194	3	1	55	1	0	0	0	0	1	0	0	0	7703	1001	35	2	244	2	IL1R2	2	102626194	Missense_Mutation	SNP	G	TCGA-DH-5140-01A-01D-1468-08	81398022	102626194	140573179	7	2319											
ACOXL	55289	broad.mit.edu	37	2	111562956	111562956	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-5140-01A-01D-1468-08	TCGA-DH-5140-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4472483c-47e2-47f0-b02f-6a8cb4c7bd96	310c380c-c166-4480-ae74-62a9ff686291	g.chr2:111562956C>T	ENST00000389811.4	+	9	961	c.737C>T	c.(736-738)gCt>gTt	p.A246V	ACOXL_ENST00000439055.1_Missense_Mutation_p.A246V|ACOXL_ENST00000340561.4_Missense_Mutation_p.A246V			Q9NUZ1	ACOXL_HUMAN	acyl-CoA oxidase-like	246					fatty acid beta-oxidation	peroxisome	acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity			kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(1)	21						GCTTTCCAAGCTATGGGTGCC	0.453													75	116					0	0	0.048971	0	0	T	111562956	C	T	111562956	3	4	55	1	0	0	0	0	1	0	0	0	161	797	28	2	767	2	ACOXL	2	111562956	Missense_Mutation	SNP	C	TCGA-DH-5140-01A-01D-1468-08	8936762	111562956	131636417	8	2320											
UGGT1	56886	broad.mit.edu	37	2	128938471	128938471	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DH-5140-01A-01D-1468-08	TCGA-DH-5140-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4472483c-47e2-47f0-b02f-6a8cb4c7bd96	310c380c-c166-4480-ae74-62a9ff686291	g.chr2:128938471delT	ENST00000375990.3	+	36	4239	c.3836delT	c.(3835-3837)atafs	p.I1279fs	UGGT1_ENST00000259253.6_Frame_Shift_Del_p.I1303fs			Q9NYU2	UGGG1_HUMAN	UDP-glucose glycoprotein glucosyltransferase 1	1303	Glucosyltransferase (By similarity).				'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding			NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						TAGGAGTTTATACCTTACATG	0.373													54	75	---	---	---	---						-	128938471	T	-	128938471	7	5	55	1	0	1	0	1	0	0	0	0	17001	1406	49	0	4050	0	UGGT1	2	128938471	Frame_Shift_Del	DEL	T	TCGA-DH-5140-01A-01D-1468-08	17375515	128938471	114260902	9	2321											
ITGB6	3694	broad.mit.edu	37	2	160998543	160998543	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-5140-01A-01D-1468-08	TCGA-DH-5140-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4472483c-47e2-47f0-b02f-6a8cb4c7bd96	310c380c-c166-4480-ae74-62a9ff686291	g.chr2:160998543G>A	ENST00000283249.2	-	8	1294	c.1057C>T	c.(1057-1059)Ctt>Ttt	p.L353F	ITGB6_ENST00000485635.1_5'UTR|ITGB6_ENST00000409872.1_Missense_Mutation_p.L353F|ITGB6_ENST00000409967.2_Missense_Mutation_p.L353F|ITGB6_ENST00000428609.2_Missense_Mutation_p.L311F	NM_001282353.1|NM_001282354.1|NM_001282388.1	NP_001269282.1|NP_001269283.1|NP_001269317.1	P18564	ITB6_HUMAN	integrin, beta 6	353	VWFA.				cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|multicellular organismal development	integrin complex	receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						TCCTTCTGAAGTAGACCTACT	0.373													5	112					0	0	0.014758	0	0	A	160998543	G	A	160998543	3	1	55	1	0	0	0	0	1	0	0	0	7943	1029	36	2	1341	2	ITGB6	2	160998543	Missense_Mutation	SNP	G	TCGA-DH-5140-01A-01D-1468-08	32060072	160998543	82200830	10	2322											
SETD2	29072	broad.mit.edu	37	3	47103668	47103705	+	Frame_Shift_Del	DEL	TTTGTTCCCCGCTCATAGGCAGAAGAGGGTGGTGAGAG	TTTGTTCCCCGCTCATAGGCAGAAGAGGGTGGTGAGAG	-	rs149758106		TCGA-DH-5140-01A-01D-1468-08	TCGA-DH-5140-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4472483c-47e2-47f0-b02f-6a8cb4c7bd96	310c380c-c166-4480-ae74-62a9ff686291	g.chr3:47103668_47103705delTTTGTTCCCCGCTCATAGGCAGAAGAGGGTGGTGAGAG	ENST00000409792.3	-	14	6283_6320	c.6241_6278delCTCTCACCACCCTCTTCTGCCTATGAGCGGGGAACAAA	c.(6241-6279)ctctcaccaccctcttctgcctatgagcggggaacaaaafs	p.LSPPSSAYERGTK2081fs	SETD2_ENST00000492397.1_5'UTR	NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	2081					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		ATCTGGCCTTTTTGTTCCCCGCTCATAGGCAGAAGAGGGTGGTGAGAGGGAGCTTCTT	0.429			"N, F, S, Mis"		clear cell renal carcinoma								38	490	---	---	---	---						-	47103705	TTTGTTCCCCGCTCATAGGCAGAAGAGGGTGGTGAGAG	-	47103668	7	5	55	1	0	1	0	1	0	0	0	0	14185	1841	64	0	1448	0	SETD2	3	47103668	Frame_Shift_Del	DEL	TTTGTTCCCCGCTCATAGGCAGAAGAGGGTGGTGAGAG	TCGA-DH-5140-01A-01D-1468-08		47103668	150918762	11	2323											
NDUFAF3	25915	broad.mit.edu	37	3	49059582	49059582	+	Missense_Mutation	SNP	C	C	G			TCGA-DH-5140-01A-01D-1468-08	TCGA-DH-5140-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4472483c-47e2-47f0-b02f-6a8cb4c7bd96	310c380c-c166-4480-ae74-62a9ff686291	g.chr3:49059582C>G	ENST00000326925.6	+	1	1139	c.5C>G	c.(4-6)gCc>gGc	p.A2G	NDUFAF3_ENST00000326912.4_Intron|DALRD3_ENST00000496568.1_5'UTR|NDUFAF3_ENST00000451378.2_Intron|NDUFAF3_ENST00000395458.2_Intron	NM_199069.1	NP_951032.1	Q9BU61	NDUF3_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 3	2					mitochondrial respiratory chain complex I assembly	mitochondrial inner membrane|nucleus	protein binding			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)	8						TCAGCCATGGCCACCGCTCTC	0.716											OREG0015566	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	22					0	0	0.09319	0	0	G	49059582	C	G	49059582	3	3	55	1	0	0	0	0	1	0	0	0	10323	739	26	5	7	5	NDUFAF3	3	49059582	Missense_Mutation	SNP	C	TCGA-DH-5140-01A-01D-1468-08	1955914	49059582	148962848	12	2324											
TP63	8626	broad.mit.edu	37	3	189612149	189612149	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DH-5140-01A-01D-1468-08	TCGA-DH-5140-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4472483c-47e2-47f0-b02f-6a8cb4c7bd96	310c380c-c166-4480-ae74-62a9ff686291	g.chr3:189612149delG	ENST00000264731.3	+	14	1990	c.1901delG	c.(1900-1902)cggfs	p.R634fs	TP63_ENST00000456148.1_Frame_Shift_Del_p.R536fs|TP63_ENST00000382063.4_Frame_Shift_Del_p.R549fs|TP63_ENST00000449992.1_Frame_Shift_Del_p.R455fs|TP63_ENST00000320472.5_3'UTR|TP63_ENST00000440651.2_Frame_Shift_Del_p.R630fs|TP63_ENST00000354600.5_Frame_Shift_Del_p.R540fs	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	634	Transactivation inhibition.				anti-apoptosis|cellular response to UV|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|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		AGTGAGACCCGGGGTGAGCGT	0.567										HNSCC(45;0.13)			107	156	---	---	---	---						-	189612149	G	-	189612149	7	5	55	1	0	1	0	1	0	0	0	0	16453	1116	39	0	2120	0	TP63	3	189612149	Frame_Shift_Del	DEL	G	TCGA-DH-5140-01A-01D-1468-08	140552567	189612149	8410281	13	2325											
UBXN7	26043	broad.mit.edu	37	3	196094958	196094958	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-5140-01A-01D-1468-08	TCGA-DH-5140-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4472483c-47e2-47f0-b02f-6a8cb4c7bd96	310c380c-c166-4480-ae74-62a9ff686291	g.chr3:196094958C>T	ENST00000296328.4	-	8	849	c.775G>A	c.(775-777)Ggt>Agt	p.G259S	UBXN7_ENST00000535858.1_Missense_Mutation_p.G111S|UBXN7_ENST00000428095.1_Missense_Mutation_p.G97S	NM_015562.1	NP_056377.1	O94888	UBXN7_HUMAN	UBX domain protein 7	259							protein binding			NS(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	18						CCATGTTCACCCAGAAATCCC	0.398													19	232					0	0	0.043863	0	0	T	196094958	C	T	196094958	3	4	55	1	0	0	0	0	1	0	0	0	16978	623	22	2	710	2	UBXN7	3	196094958	Missense_Mutation	SNP	C	TCGA-DH-5140-01A-01D-1468-08	6482809	196094958	1927472	14	2326											
PCDH7	5099	broad.mit.edu	37	4	31144181	31144181	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-5140-01A-01D-1468-08	TCGA-DH-5140-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4472483c-47e2-47f0-b02f-6a8cb4c7bd96	310c380c-c166-4480-ae74-62a9ff686291	g.chr4:31144181C>T	ENST00000543491.1	+	3	3478	c.3478C>T	c.(3478-3480)Ccg>Tcg	p.P1160S				O60245	PCDH7_HUMAN	protocadherin 7	0					homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						CTGCTGGATGCCGGTCCGCAC	0.537													5	267					0	0	0.014758	0	0	T	31144181	C	T	31144181	3	4	55	1	0	0	0	0	1	0	0	0	11563	739	26	2	3573	2	PCDH7	4	31144181	Missense_Mutation	SNP	C	TCGA-DH-5140-01A-01D-1468-08		31144181	160010095	15	2327											
HIST1H4G	8369	broad.mit.edu	37	6	26247163	26247163	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-5140-01A-01D-1468-08	TCGA-DH-5140-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4472483c-47e2-47f0-b02f-6a8cb4c7bd96	310c380c-c166-4480-ae74-62a9ff686291	g.chr6:26247163C>T	ENST00000244537.4	-	1	96	c.43G>A	c.(43-45)Ggt>Agt	p.G15S		NM_003547.2	NP_003538.1	Q99525	H4G_HUMAN	histone cluster 1, H4g	15					nucleosome assembly	nucleosome|nucleus	DNA binding	p.G15S(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	7		all_hematologic(11;0.0945)|Acute lymphoblastic leukemia(11;0.167)				CACTTGGCACCGCCTTTCCCA	0.517													20	93					0	0	0.049695	0	0	T	26247163	C	T	26247163	3	4	55	1	0	0	0	0	1	0	0	0	7212	652	23	1	257	1	HIST1H4G	6	26247163	Missense_Mutation	SNP	C	TCGA-DH-5140-01A-01D-1468-08		26247163	144867904	16	2328											
HLA-DQA2	3118	broad.mit.edu	37	6	32713607	32713607	+	Missense_Mutation	SNP	C	C	T	rs144060347		TCGA-DH-5140-01A-01D-1468-08	TCGA-DH-5140-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4472483c-47e2-47f0-b02f-6a8cb4c7bd96	310c380c-c166-4480-ae74-62a9ff686291	g.chr6:32713607C>T	ENST00000374940.3	+	3	473	c.371C>T	c.(370-372)aCg>aTg	p.T124M		NM_020056.4	NP_064440.1	P01906	DQA2_HUMAN	major histocompatibility complex, class II, DQ alpha 2	124	Alpha-2.|Ig-like C1-type.				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|endosome membrane|Golgi apparatus|integral to plasma membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity			endometrium(2)|large_intestine(3)|lung(7)|skin(1)	13					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TTTCCTGTGACGCTGGGTCAG	0.507													121	120					0	0	0.048971	0	0	T	32713607	C	T	32713607	3	4	55	1	0	0	0	0	1	0	0	0	7246	536	19	1	381	1	HLA-DQA2	6	32713607	Missense_Mutation	SNP	C	TCGA-DH-5140-01A-01D-1468-08	6466444	32713607	138401460	17	2329											
SLC25A40	55972	broad.mit.edu	37	7	87466058	87466058	+	Silent	SNP	G	G	A			TCGA-DH-5140-01A-01D-1468-08	TCGA-DH-5140-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4472483c-47e2-47f0-b02f-6a8cb4c7bd96	310c380c-c166-4480-ae74-62a9ff686291	g.chr7:87466058G>A	ENST00000341119.5	-	11	1237	c.891C>T	c.(889-891)tcC>tcT	p.S297S		NM_018843.3	NP_061331.2	Q8TBP6	S2540_HUMAN	solute carrier family 25, member 40	297					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	17	Esophageal squamous(14;0.00202)					AAAATAATCCGGAAAATCCAT	0.259													28	58					0	0	0.099896	0	0	A	87466058	G	A	87466058	2	1	55	1	0	0	0	0	0	0	0	1	14560	1103	39	1		1	SLC25A40	7	87466058	Silent	SNP	G	TCGA-DH-5140-01A-01D-1468-08		87466058	71672605	18	2330											
CPA1	1357	broad.mit.edu	37	7	130024455	130024455	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-5140-01A-01D-1468-08	TCGA-DH-5140-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4472483c-47e2-47f0-b02f-6a8cb4c7bd96	310c380c-c166-4480-ae74-62a9ff686291	g.chr7:130024455G>A	ENST00000011292.3	+	7	925	c.775G>A	c.(775-777)Gct>Act	p.A259T	CPA1_ENST00000484324.1_Missense_Mutation_p.A171T	NM_001868.2	NP_001859.1	P15085	CBPA1_HUMAN	carboxypeptidase A1 (pancreatic)	259					proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)	21	Melanoma(18;0.0435)					GAACTGGGACGCTGGCTTTGG	0.602													11	140					0	0	0.105934	0	0	A	130024455	G	A	130024455	3	1	55	1	0	0	0	0	1	0	0	0	3812	1087	38	1	801	1	CPA1	7	130024455	Missense_Mutation	SNP	G	TCGA-DH-5140-01A-01D-1468-08	42558397	130024455	29114208	19	2331											
PHF20L1	51105	broad.mit.edu	37	8	133837542	133837542	+	Missense_Mutation	SNP	A	A	C			TCGA-DH-5140-01A-01D-1468-08	TCGA-DH-5140-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4472483c-47e2-47f0-b02f-6a8cb4c7bd96	310c380c-c166-4480-ae74-62a9ff686291	g.chr8:133837542A>C	ENST00000395386.2	+	14	1969	c.1670A>C	c.(1669-1671)gAg>gCg	p.E557A	PHF20L1_ENST00000395390.2_Missense_Mutation_p.E532A|PHF20L1_ENST00000220847.7_5'UTR	NM_016018.4	NP_057102.4	A8MW92	P20L1_HUMAN	PHD finger protein 20-like 1	557	Lys-rich.						nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(1)|lung(10)|ovary(2)	15	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			gaaagaagagagaagagagac	0.338													3	37					0	0	0.004672	0	0	C	133837542	A	C	133837542	3	2	55	1	0	0	0	0	1	0	0	0	11880	304	11	5	1816	5	PHF20L1	8	133837542	Missense_Mutation	SNP	A	TCGA-DH-5140-01A-01D-1468-08		133837542	12526480	20	2332											
SLC39A12	221074	broad.mit.edu	37	10	18276462	18276462	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-5140-01A-01D-1468-08	TCGA-DH-5140-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4472483c-47e2-47f0-b02f-6a8cb4c7bd96	310c380c-c166-4480-ae74-62a9ff686291	g.chr10:18276462G>A	ENST00000377369.2	+	7	1424	c.1151G>A	c.(1150-1152)gGg>gAg	p.G384E	SLC39A12_ENST00000377374.4_Missense_Mutation_p.G384E|SLC39A12_ENST00000539911.1_Missense_Mutation_p.G250E|SLC39A12_ENST00000377371.3_Missense_Mutation_p.G384E	NM_001145195.1|NM_001282733.1|NM_001282734.1	NP_001138667.1|NP_001269662.1|NP_001269663.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12	384					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						TCCATGCTGGGGACAGCGCTG	0.562													4	119					0	0	0.009096	0	0	A	18276462	G	A	18276462	3	1	55	1	0	0	0	0	1	0	0	0	14670	1232	43	2	1173	2	SLC39A12	10	18276462	Missense_Mutation	SNP	G	TCGA-DH-5140-01A-01D-1468-08		18276462	117258285	21	2333											
PELI3	246330	broad.mit.edu	37	11	66243277	66243277	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-5140-01A-01D-1468-08	TCGA-DH-5140-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4472483c-47e2-47f0-b02f-6a8cb4c7bd96	310c380c-c166-4480-ae74-62a9ff686291	g.chr11:66243277C>T	ENST00000349459.6	+	7	1261	c.977C>T	c.(976-978)gCg>gTg	p.A326V	CTD-3074O7.5_ENST00000533502.1_RNA|PELI3_ENST00000320740.7_Missense_Mutation_p.A350V|PELI3_ENST00000531856.1_3'UTR|CTD-3074O7.5_ENST00000527092.1_RNA	NM_001098510.1	NP_001091980.1	Q8N2H9	PELI3_HUMAN	pellino E3 ubiquitin protein ligase family member 3	350						cytosol	protein binding			breast(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)	15						GGCCGCACAGCGCCCGACAAA	0.736													3	14					0	0	0.014758	0	0	T	66243277	C	T	66243277	3	4	55	1	0	0	0	0	1	0	0	0	11770	768	27	1	1075	1	PELI3	11	66243277	Missense_Mutation	SNP	C	TCGA-DH-5140-01A-01D-1468-08		66243277	68763239	22	2334											
INTS4	92105	broad.mit.edu	37	11	77639508	77639508	+	Silent	SNP	A	A	T			TCGA-DH-5140-01A-01D-1468-08	TCGA-DH-5140-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4472483c-47e2-47f0-b02f-6a8cb4c7bd96	310c380c-c166-4480-ae74-62a9ff686291	g.chr11:77639508A>T	ENST00000534064.1	-	11	1285	c.1251T>A	c.(1249-1251)gtT>gtA	p.V417V	INTS4_ENST00000529807.1_Silent_p.V417V|INTS4_ENST00000525931.1_5'UTR	NM_033547.3	NP_291025.3	Q96HW7	INT4_HUMAN	integrator complex subunit 4	417					snRNA processing	integrator complex	protein binding		INTS4/GAB2(2)	NS(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(5)|upper_aerodigestive_tract(1)	32	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		Epithelial(5;1.13e-46)|all cancers(3;8.92e-44)|BRCA - Breast invasive adenocarcinoma(5;8.4e-26)|OV - Ovarian serous cystadenocarcinoma(8;1.05e-23)			TGAACATGTCAACTAGGAAAT	0.443													47	24					0	0	0.039052	0	0	T	77639508	A	T	77639508	2	4	55	1	0	0	0	0	0	0	0	1	7824	117	5	5		5	INTS4	11	77639508	Silent	SNP	A	TCGA-DH-5140-01A-01D-1468-08	11396231	77639508	57367008	23	2335											
MAML2	84441	broad.mit.edu	37	11	95712904	95712904	+	Missense_Mutation	SNP	C	C	G			TCGA-DH-5140-01A-01D-1468-08	TCGA-DH-5140-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4472483c-47e2-47f0-b02f-6a8cb4c7bd96	310c380c-c166-4480-ae74-62a9ff686291	g.chr11:95712904C>G	ENST00000524717.1	-	5	3963	c.2679G>C	c.(2677-2679)caG>caC	p.Q893H		NM_032427.1	NP_115803.1	Q8IZL2	MAML2_HUMAN	mastermind-like 2 (Drosophila)	893					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity		CRTC3/MAML2(26)|CRTC1/MAML2(516)	breast(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	43		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)				TTGGGTTTCTCTGTTGGGTCA	0.408			T	"MECT1, CRTC3"	salivary gland mucoepidermoid								112	90					0	0	0.048971	0	0	G	95712904	C	G	95712904	3	3	55	1	0	0	0	0	1	0	0	0	9256	912	32	4	795	4	MAML2	11	95712904	Missense_Mutation	SNP	C	TCGA-DH-5140-01A-01D-1468-08	18073396	95712904	39293612	24	2336											
ATN1	1822	broad.mit.edu	37	12	7046127	7046127	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-5140-01A-01D-1468-08	TCGA-DH-5140-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4472483c-47e2-47f0-b02f-6a8cb4c7bd96	310c380c-c166-4480-ae74-62a9ff686291	g.chr12:7046127C>T	ENST00000356654.4	+	5	1934	c.1697C>T	c.(1696-1698)cCt>cTt	p.P566L	ATN1_ENST00000396684.2_Missense_Mutation_p.P566L	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN	atrophin 1	566	Involved in binding BAIAP2.				cell death|central nervous system development	cytoplasm|nucleus	protein domain specific binding			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						CCCAATGGCCCTCCAGTCTCT	0.637													17	196					0	0	0.038395	0	0	T	7046127	C	T	7046127	3	4	55	1	0	0	0	0	1	0	0	0	1110	681	24	2	1711	2	ATN1	12	7046127	Missense_Mutation	SNP	C	TCGA-DH-5140-01A-01D-1468-08		7046127	126805768	25	2337											
ZCRB1	85437	broad.mit.edu	37	12	42711595	42711595	+	Missense_Mutation	SNP	G	G	T			TCGA-DH-5140-01A-01D-1468-08	TCGA-DH-5140-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4472483c-47e2-47f0-b02f-6a8cb4c7bd96	310c380c-c166-4480-ae74-62a9ff686291	g.chr12:42711595G>T	ENST00000266529.3	-	4	402	c.219C>A	c.(217-219)aaC>aaA	p.N73K	PPHLN1_ENST00000549190.1_Intron|ZCRB1_ENST00000552673.1_Missense_Mutation_p.N32K	NM_033114.3	NP_149105.3	Q8TBF4	ZCRB1_HUMAN	zinc finger CCHC-type and RNA binding motif 1	73	RRM.				mRNA processing	nucleoplasm|U12-type spliceosomal complex	nucleotide binding|RNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|skin(2)	8	all_cancers(12;0.000348)|Breast(8;0.221)	Lung NSC(34;0.123)		GBM - Glioblastoma multiforme(48;0.0689)		TTACCTGTTTGTTGTTTATTG	0.393													91	130					1.31458e-49	1.47233e-49	0.048971	1	0	T	42711595	G	T	42711595	3	4	55	1	0	0	0	0	1	0	0	0	17654	1368	48	5	454	5	ZCRB1	12	42711595	Missense_Mutation	SNP	G	TCGA-DH-5140-01A-01D-1468-08	35665468	42711595	91140300	26	2338											
SPTBN5	51332	broad.mit.edu	37	15	42172441	42172441	+	Silent	SNP	A	A	G			TCGA-DH-5140-01A-01D-1468-08	TCGA-DH-5140-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4472483c-47e2-47f0-b02f-6a8cb4c7bd96	310c380c-c166-4480-ae74-62a9ff686291	g.chr15:42172441A>G	ENST00000320955.6	-	14	2955	c.2728T>C	c.(2728-2730)Ttg>Ctg	p.L910L		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	910					actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		TCCAGCCACAACTGGAGCTCC	0.632													4	10					0	0	0.047766	0	0	G	42172441	A	G	42172441	2	3	55	1	0	0	0	0	0	0	0	1	15178	40	2	3		3	SPTBN5	15	42172441	Silent	SNP	A	TCGA-DH-5140-01A-01D-1468-08		42172441	60358951	27	2339											
TNFAIP8L3	388121	broad.mit.edu	37	15	51397261	51397261	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-5140-01A-01D-1468-08	TCGA-DH-5140-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4472483c-47e2-47f0-b02f-6a8cb4c7bd96	310c380c-c166-4480-ae74-62a9ff686291	g.chr15:51397261G>A	ENST00000327536.5	-	1	212	c.113C>T	c.(112-114)gCc>gTc	p.A38V	RP11-108K3.1_ENST00000559909.1_lincRNA	NM_207381.2	NP_997264.2	Q5GJ75	TP8L3_HUMAN	tumor necrosis factor, alpha-induced protein 8-like 3	38			A -> T (in dbSNP:rs17647084).							endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	11				all cancers(107;0.000389)|GBM - Glioblastoma multiforme(94;0.00338)		TTGTAACGTGGCATCCCTTGT	0.522													6	233					0	0	0.021553	0	0	A	51397261	G	A	51397261	3	1	55	1	0	0	0	0	1	0	0	0	16339	1203	42	2	777	2	TNFAIP8L3	15	51397261	Missense_Mutation	SNP	G	TCGA-DH-5140-01A-01D-1468-08	9224820	51397261	51134131	28	2340											
ACAN	176	broad.mit.edu	37	15	89398499	89398499	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-5140-01A-01D-1468-08	TCGA-DH-5140-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4472483c-47e2-47f0-b02f-6a8cb4c7bd96	310c380c-c166-4480-ae74-62a9ff686291	g.chr15:89398499C>T	ENST00000439576.2	+	12	3057	c.2683C>T	c.(2683-2685)Ccc>Tcc	p.P895S	ACAN_ENST00000352105.7_Missense_Mutation_p.P895S|ACAN_ENST00000561243.1_Missense_Mutation_p.P895S|ACAN_ENST00000559004.1_Missense_Mutation_p.P895S	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	895					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			AAGTGGACTGCCCTCTGGAGA	0.572													40	53					0	0	0.080422	0	0	T	89398499	C	T	89398499	3	4	55	1	0	0	0	0	1	0	0	0	117	739	26	2	2725	2	ACAN	15	89398499	Missense_Mutation	SNP	C	TCGA-DH-5140-01A-01D-1468-08	38001238	89398499	13132893	29	2341											
ABCC12	94160	broad.mit.edu	37	16	48174762	48174762	+	Silent	SNP	G	G	A			TCGA-DH-5140-01A-01D-1468-08	TCGA-DH-5140-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4472483c-47e2-47f0-b02f-6a8cb4c7bd96	310c380c-c166-4480-ae74-62a9ff686291	g.chr16:48174762G>A	ENST00000311303.3	-	4	838	c.493C>T	c.(493-495)Ctg>Ttg	p.L165L	ABCC12_ENST00000416054.1_Silent_p.L165L|ABCC12_ENST00000448542.1_Silent_p.L165L	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	165	ABC transmembrane type-1 1.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				GCTATGCACAGTCCAATGCCA	0.537													76	97					0	0	0.048971	0	0	A	48174762	G	A	48174762	2	1	55	1	0	0	0	0	0	0	0	1	52	1020	36	2		2	ABCC12	16	48174762	Silent	SNP	G	TCGA-DH-5140-01A-01D-1468-08		48174762	42179991	30	2342											
TP53	7157	broad.mit.edu	37	17	7574025	7574025	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DH-5140-01A-01D-1468-08	TCGA-DH-5140-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4472483c-47e2-47f0-b02f-6a8cb4c7bd96	310c380c-c166-4480-ae74-62a9ff686291	g.chr17:7574025delC	ENST00000269305.4	-	10	1191	c.1002delG	c.(1000-1002)gggfs	p.G334fs	TP53_ENST00000445888.2_Frame_Shift_Del_p.G334fs|TP53_ENST00000420246.2_3'UTR|TP53_ENST00000455263.2_3'UTR|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Intron	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	334	Interaction with CARM1.|Interaction with HIPK1 (By similarity).|Interaction with HIPK2.|Oligomerization.		G -> V (in sporadic cancers; somatic mutation).|G -> W (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.0?(8)|p.I332fs*5(1)|p.?(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)		AGCGCTCACGCCCACGGATCT	0.522		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)			19	38	---	---	---	---						-	7574025	C	-	7574025	7	5	55	1	0	1	0	1	0	0	0	0	16442	726	26	0	187	0	TP53	17	7574025	Frame_Shift_Del	DEL	C	TCGA-DH-5140-01A-01D-1468-08		7574025	73621185	31	2343	8	2									
TP53	7157	broad.mit.edu	37	17	7574035	7574035	+	Splice_Site	SNP	T	T	G			TCGA-DH-5140-01A-01D-1468-08	TCGA-DH-5140-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4472483c-47e2-47f0-b02f-6a8cb4c7bd96	310c380c-c166-4480-ae74-62a9ff686291	g.chr17:7574035T>G	ENST00000420246.2	-	11	1259		c.e11-2		TP53_ENST00000413465.2_Intron|TP53_ENST00000269305.4_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000359597.4_Intron|TP53_ENST00000455263.2_Splice_Site	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53						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.?(10)|p.0?(8)|p.I332fs*49(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)		CCCACGGATCTGCAGCAACAG	0.507		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)			14	31					0	0	0.024245	0	0	G	7574035	T	G	7574035	5	3	55	1	0	0	0	0	0	0	1	0	16442	1594	55	5	197	5	TP53	17	7574035	Splice_Site	SNP	T	TCGA-DH-5140-01A-01D-1468-08	10	7574035	73621175	32	2344	8	2									
TP53	7157	broad.mit.edu	37	17	7577572	7577572	+	Missense_Mutation	SNP	T	T	C			TCGA-DH-5140-01A-01D-1468-08	TCGA-DH-5140-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4472483c-47e2-47f0-b02f-6a8cb4c7bd96	310c380c-c166-4480-ae74-62a9ff686291	g.chr17:7577572T>C	ENST00000420246.2	-	7	841	c.709A>G	c.(709-711)Atg>Gtg	p.M237V	TP53_ENST00000574684.1_5'UTR|TP53_ENST00000413465.2_Missense_Mutation_p.M237V|TP53_ENST00000269305.4_Missense_Mutation_p.M237V|TP53_ENST00000445888.2_Missense_Mutation_p.M237V|TP53_ENST00000359597.4_Missense_Mutation_p.M237V|TP53_ENST00000455263.2_Missense_Mutation_p.M237V	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	237	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).		M -> I (in LFS; germline mutation and in sporadic cancers; somatic mutation).|M -> K (in sporadic cancers; somatic mutation).|M -> L (in sporadic cancers; somatic mutation).|M -> R (in sporadic cancers; somatic mutation).|M -> T (in sporadic cancers; somatic mutation).|M -> V (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.0?(8)|p.M237V(6)|p.?(5)|p.M237L(5)|p.M237fs*10(2)|p.Y236_M237delYM(1)|p.Y236_M237insXX(1)|p.H233fs*6(1)|p.M144L(1)|p.M237_N239delMCN(1)|p.Y236_M243delYMCNSSCM(1)|p.V225fs*23(1)|p.Y236_M237>*L(1)|p.H233_C242del10(1)|p.M237fs*1(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)		CTGTTACACATGTAGTTGTAG	0.572		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)			41	67					0	0	0.039052	0	0	C	7577572	T	C	7577572	3	2	55	1	0	0	0	0	1	0	0	0	16442	1464	51	3	581	3	TP53	17	7577572	Missense_Mutation	SNP	T	TCGA-DH-5140-01A-01D-1468-08	3537	7577572	73617638	33	2345											
NF1	4763	broad.mit.edu	37	17	29556166	29556166	+	Missense_Mutation	SNP	T	T	C			TCGA-DH-5140-01A-01D-1468-08	TCGA-DH-5140-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4472483c-47e2-47f0-b02f-6a8cb4c7bd96	310c380c-c166-4480-ae74-62a9ff686291	g.chr17:29556166T>C	ENST00000358273.4	+	21	2916	c.2533T>C	c.(2533-2535)Tgt>Cgt	p.C845R	NF1_ENST00000356175.3_Missense_Mutation_p.C845R	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	845					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TGGCTTCCTTTGTGCCCTTGG	0.512			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			101	12					0	0	0.048971	0	0	C	29556166	T	C	29556166	3	2	55	1	0	0	0	0	1	0	0	0	10403	1812	63	3	2676	3	NF1	17	29556166	Missense_Mutation	SNP	T	TCGA-DH-5140-01A-01D-1468-08	21978594	29556166	51639044	34	2346											
CCDC40	55036	broad.mit.edu	37	17	78032380	78032380	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-5140-01A-01D-1468-08	TCGA-DH-5140-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4472483c-47e2-47f0-b02f-6a8cb4c7bd96	310c380c-c166-4480-ae74-62a9ff686291	g.chr17:78032380G>A	ENST00000397545.4	+	8	1274	c.1247G>A	c.(1246-1248)cGc>cAc	p.R416H	CCDC40_ENST00000374877.3_Missense_Mutation_p.R416H|CCDC40_ENST00000269318.5_Missense_Mutation_p.R416H|CCDC40_ENST00000374876.4_Missense_Mutation_p.R416H	NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	416					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			GACGACATCCGCGTGATGACA	0.537													120	11					0	0	0.048971	0	0	A	78032380	G	A	78032380	3	1	55	1	0	0	0	0	1	0	0	0	2831	1087	38	1	1277	1	CCDC40	17	78032380	Missense_Mutation	SNP	G	TCGA-DH-5140-01A-01D-1468-08	48476214	78032380	3162830	35	2347											
PLIN4	729359	broad.mit.edu	37	19	4511095	4511095	+	Silent	SNP	G	G	A			TCGA-DH-5140-01A-01D-1468-08	TCGA-DH-5140-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4472483c-47e2-47f0-b02f-6a8cb4c7bd96	310c380c-c166-4480-ae74-62a9ff686291	g.chr19:4511095G>A	ENST00000301286.3	-	3	2834	c.2835C>T	c.(2833-2835)ggC>ggT	p.G945G		NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4	945	27 X 33 AA approximate tandem repeat.					lipid particle|plasma membrane				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						CATCCTTAGCGCCACTCAGCA	0.592													32	82					0	0	0.050027	0	0	A	4511095	G	A	4511095	2	1	55	1	0	0	0	0	0	0	0	1	12140	1074	38	1		1	PLIN4	19	4511095	Silent	SNP	G	TCGA-DH-5140-01A-01D-1468-08		4511095	54617888	36	2348											
NOTCH3	4854	broad.mit.edu	37	19	15281250	15281250	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-5140-01A-01D-1468-08	TCGA-DH-5140-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4472483c-47e2-47f0-b02f-6a8cb4c7bd96	310c380c-c166-4480-ae74-62a9ff686291	g.chr19:15281250C>T	ENST00000263388.2	-	27	5081	c.5006G>A	c.(5005-5007)cGc>cAc	p.R1669H		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	1669					Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			GCTGTGCTCGCGCTTGCGCCG	0.677													44	57					0	0	0.039052	0	0	T	15281250	C	T	15281250	3	4	55	1	0	0	0	0	1	0	0	0	10597	768	27	1	1987	1	NOTCH3	19	15281250	Missense_Mutation	SNP	C	TCGA-DH-5140-01A-01D-1468-08	10770155	15281250	43847733	37	2349											
SLC7A9	11136	broad.mit.edu	37	19	33350866	33350866	+	Missense_Mutation	SNP	G	G	T			TCGA-DH-5140-01A-01D-1468-08	TCGA-DH-5140-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4472483c-47e2-47f0-b02f-6a8cb4c7bd96	310c380c-c166-4480-ae74-62a9ff686291	g.chr19:33350866G>T	ENST00000023064.4	-	8	945	c.754C>A	c.(754-756)Ctg>Atg	p.L252M	SLC7A9_ENST00000587772.1_Missense_Mutation_p.L252M|SLC7A9_ENST00000590341.1_Missense_Mutation_p.L252M	NM_001126335.1|NM_001243036.1|NM_014270.4	NP_001119807.1|NP_001229965.1|NP_055085.1	P82251	BAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, bo,+ system), member 9	252					blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	integral to plasma membrane	L-cystine transmembrane transporter activity|neutral amino acid transmembrane transporter activity|peptide antigen binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32	Esophageal squamous(110;0.137)				L-Cystine(DB00138)	GCCAAAGGCAGGTTTCTGGGA	0.602													19	69					2.4624e-09	2.70381e-09	0.049695	1	0	T	33350866	G	T	33350866	3	4	55	1	0	0	0	0	1	0	0	0	14760	991	35	4	733	4	SLC7A9	19	33350866	Missense_Mutation	SNP	G	TCGA-DH-5140-01A-01D-1468-08	18069616	33350866	25778117	38	2350											
RBM11	54033	broad.mit.edu	37	21	15599378	15599378	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-5140-01A-01D-1468-08	TCGA-DH-5140-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4472483c-47e2-47f0-b02f-6a8cb4c7bd96	310c380c-c166-4480-ae74-62a9ff686291	g.chr21:15599378G>A	ENST00000400577.3	+	5	619	c.610G>A	c.(610-612)Gct>Act	p.A204T	RBM11_ENST00000468643.1_3'UTR	NM_144770.3	NP_658983.3	P57052	RBM11_HUMAN	RNA binding motif protein 11	204							nucleotide binding|RNA binding			endometrium(3)|kidney(3)|lung(7)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16				Epithelial(23;0.000314)|COAD - Colon adenocarcinoma(22;0.00242)|Colorectal(24;0.0129)|Lung(58;0.141)		TCAGATGACAGCTCCACTTCC	0.463													99	361					0	0	0.048971	0	0	A	15599378	G	A	15599378	3	1	55	1	0	0	0	0	1	0	0	0	13164	971	34	2	628	2	RBM11	21	15599378	Missense_Mutation	SNP	G	TCGA-DH-5140-01A-01D-1468-08		15599378	32530517	39	2351											
CPXCR1	53336	broad.mit.edu	37	X	88009308	88009308	+	Missense_Mutation	SNP	C	C	G			TCGA-DH-5140-01A-01D-1468-08	TCGA-DH-5140-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4472483c-47e2-47f0-b02f-6a8cb4c7bd96	310c380c-c166-4480-ae74-62a9ff686291	g.chrX:88009308C>G	ENST00000276127.4	+	3	1152	c.893C>G	c.(892-894)tCt>tGt	p.S298C	CPXCR1_ENST00000373111.1_Missense_Mutation_p.S298C	NM_033048.5	NP_149037	Q8N123	CPXCR_HUMAN	CPX chromosome region, candidate 1	298						intracellular	zinc ion binding			NS(1)|cervix(1)|kidney(1)|large_intestine(11)|liver(1)|lung(20)|ovary(3)|upper_aerodigestive_tract(2)	40						TCATGCAGCTCTTCTGGGAAT	0.294													4	118					0	0	0.009096	0	0	G	88009308	C	G	88009308	3	3	55	1	0	0	0	0	1	0	0	0	3859	913	32	4	895	4	CPXCR1	23	88009308	Missense_Mutation	SNP	C	TCGA-DH-5140-01A-01D-1468-08		88009308	67261252	40	2352											
IGSF1	3547	broad.mit.edu	37	X	130416639	130416639	+	Missense_Mutation	SNP	C	C	G			TCGA-DH-5140-01A-01D-1468-08	TCGA-DH-5140-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4472483c-47e2-47f0-b02f-6a8cb4c7bd96	310c380c-c166-4480-ae74-62a9ff686291	g.chrX:130416639C>G	ENST00000370904.1	-	13	1908	c.998G>C	c.(997-999)cGg>cCg	p.R333P	IGSF1_ENST00000370910.1_Missense_Mutation_p.R333P|IGSF1_ENST00000370903.3_Missense_Mutation_p.R342P|IGSF1_ENST00000361420.3_Missense_Mutation_p.R342P			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	342	Ig-like C2-type 4.				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						TCCTCGACACCGTAGGCTCAC	0.498													8	232					0	0	0.047766	0	0	G	130416639	C	G	130416639	3	3	55	1	0	0	0	0	1	0	0	0	7640	652	23	5	3056	5	IGSF1	23	130416639	Missense_Mutation	SNP	C	TCGA-DH-5140-01A-01D-1468-08	42407331	130416639	24853921	41	2353											
MIB2	142678	broad.mit.edu	37	1	1560729	1560729	+	Missense_Mutation	SNP	A	A	G			TCGA-DH-5141-01A-01D-1468-08	TCGA-DH-5141-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77c396b-3f9c-4f1a-864e-f92793906b9d	8ab5bff0-41b4-493c-9626-d706d1c6aa38	g.chr1:1560729A>G	ENST00000357210.4	+	7	1175	c.959A>G	c.(958-960)aAg>aGg	p.K320R	MIB2_ENST00000378710.3_Missense_Mutation_p.K320R|MIB2_ENST00000504599.1_Missense_Mutation_p.K276R|MIB2_ENST00000355826.5_Missense_Mutation_p.K363R|MIB2_ENST00000378708.1_Missense_Mutation_p.K262R|MIB2_ENST00000518681.1_Missense_Mutation_p.K312R|MIB2_ENST00000378712.1_Missense_Mutation_p.K197R|MIB2_ENST00000505820.2_Missense_Mutation_p.K377R|MIB2_ENST00000520777.1_Missense_Mutation_p.K377R|MIB2_ENST00000360522.4_Missense_Mutation_p.K320R	NM_080875.2	NP_543151.2	Q96AX9	MIB2_HUMAN	mindbomb E3 ubiquitin protein ligase 2	320					Notch signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade	endosome	actin binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|lung(7)|prostate(4)|upper_aerodigestive_tract(1)	18	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		CACGGGGACAAGGTCAAGTGT	0.697													2	6					0	0	0.115264	0	0	G	1560729	A	G	1560729	3	3	56	1	0	0	0	0	1	0	0	0	9616	72	3	3	1156	3	MIB2	1	1560729	Missense_Mutation	SNP	A	TCGA-DH-5141-01A-01D-1468-08		1560729	247689892	1	2354											
GBP5	115362	broad.mit.edu	37	1	89728016	89728016	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-5141-01A-01D-1468-08	TCGA-DH-5141-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77c396b-3f9c-4f1a-864e-f92793906b9d	8ab5bff0-41b4-493c-9626-d706d1c6aa38	g.chr1:89728016C>T	ENST00000343435.5	-	11	2070	c.1534G>A	c.(1534-1536)Gag>Aag	p.E512K	GBP5_ENST00000370459.3_Missense_Mutation_p.E512K|RP4-620F22.2_ENST00000437128.1_RNA	NM_001134486.2|NM_052942.3	NP_001127958.1|NP_443174.1	Q96PP8	GBP5_HUMAN	guanylate binding protein 5	512						plasma membrane	GTP binding|GTPase activity			breast(1)|endometrium(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)	24				all cancers(265;0.00784)|Epithelial(280;0.0286)		ATCATTTGCTCGTTCTGCCTT	0.463													62	78					0	0	0.870114	0	0	T	89728016	C	T	89728016	3	4	56	1	0	0	0	0	1	0	0	0	6317	893	31	1	234	1	GBP5	1	89728016	Missense_Mutation	SNP	C	TCGA-DH-5141-01A-01D-1468-08	88167287	89728016	159522605	2	2355											
FLG	2312	broad.mit.edu	37	1	152282227	152282227	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-5141-01A-01D-1468-08	TCGA-DH-5141-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77c396b-3f9c-4f1a-864e-f92793906b9d	8ab5bff0-41b4-493c-9626-d706d1c6aa38	g.chr1:152282227C>T	ENST00000368799.1	-	3	5170	c.5135G>A	c.(5134-5136)cGa>cAa	p.R1712Q	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1712	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.R1712P(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ACTGGACCCTCGGTTTCCACT	0.592									Ichthyosis				16	574					0	0	0.520397	0	0	T	152282227	C	T	152282227	3	4	56	1	0	0	0	0	1	0	0	0	5955	884	31	1	7054	1	FLG	1	152282227	Missense_Mutation	SNP	C	TCGA-DH-5141-01A-01D-1468-08	62554211	152282227	96968394	3	2356											
PCNXL2	80003	broad.mit.edu	37	1	233344354	233344354	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-5141-01A-01D-1468-08	TCGA-DH-5141-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77c396b-3f9c-4f1a-864e-f92793906b9d	8ab5bff0-41b4-493c-9626-d706d1c6aa38	g.chr1:233344354C>T	ENST00000258229.9	-	13	3007	c.2773G>A	c.(2773-2775)Gcc>Acc	p.A925T	PCNXL2_ENST00000488780.2_Missense_Mutation_p.A58T|PCNXL2_ENST00000430153.1_Missense_Mutation_p.A224T	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)							integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				CTGGCTTTGGCCCCTGTATCA	0.423													14	91					0	0	0.435327	0	0	T	233344354	C	T	233344354	3	4	56	1	0	0	0	0	1	0	0	0	11639	739	26	2	3728	2	PCNXL2	1	233344354	Missense_Mutation	SNP	C	TCGA-DH-5141-01A-01D-1468-08	81062127	233344354	15906267	4	2357											
C2orf71	388939	broad.mit.edu	37	2	29294007	29294007	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-5141-01A-01D-1468-08	TCGA-DH-5141-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77c396b-3f9c-4f1a-864e-f92793906b9d	8ab5bff0-41b4-493c-9626-d706d1c6aa38	g.chr2:29294007G>A	ENST00000331664.5	-	1	3120	c.3121C>T	c.(3121-3123)Cca>Tca	p.P1041S		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	1041	Pro-rich.				response to stimulus|visual perception	photoreceptor outer segment				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						GTGGTGGGTGGGCTTAGCACC	0.687													38	83					0	0	0.834066	0	0	A	29294007	G	A	29294007	3	1	56	1	0	0	0	0	1	0	0	0	2205	1232	43	2	753	2	C2orf71	2	29294007	Missense_Mutation	SNP	G	TCGA-DH-5141-01A-01D-1468-08		29294007	213905366	5	2358											
RIF1	55183	broad.mit.edu	37	2	152293371	152293371	+	Missense_Mutation	SNP	C	C	A			TCGA-DH-5141-01A-01D-1468-08	TCGA-DH-5141-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77c396b-3f9c-4f1a-864e-f92793906b9d	8ab5bff0-41b4-493c-9626-d706d1c6aa38	g.chr2:152293371C>A	ENST00000243326.5	+	11	1709	c.1226C>A	c.(1225-1227)aCt>aAt	p.T409N	RIF1_ENST00000433166.2_Missense_Mutation_p.L339I|RIF1_ENST00000444746.2_Missense_Mutation_p.T409N|RIF1_ENST00000453091.2_Missense_Mutation_p.T409N|RIF1_ENST00000430328.2_Missense_Mutation_p.T409N|RIF1_ENST00000428287.2_Missense_Mutation_p.T409N			Q5UIP0	RIF1_HUMAN	RAP1 interacting factor homolog (yeast)						cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		GCCCCGGGAACTCCCCGAATG	0.418													11	114					4.68919e-08	5.10601e-08	0.361761	1	0	A	152293371	C	A	152293371	3	1	56	1	0	0	0	0	1	0	0	0	13409	565	20	4	1268	4	RIF1	2	152293371	Missense_Mutation	SNP	C	TCGA-DH-5141-01A-01D-1468-08	122999364	152293371	90906002	6	2359											
CHRNA1	1134	broad.mit.edu	37	2	175614763	175614763	+	Missense_Mutation	SNP	C	C	T	rs137852804		TCGA-DH-5141-01A-01D-1468-08	TCGA-DH-5141-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77c396b-3f9c-4f1a-864e-f92793906b9d	8ab5bff0-41b4-493c-9626-d706d1c6aa38	g.chr2:175614763C>T	ENST00000348749.5	-	7	990	c.913G>A	c.(913-915)Gtc>Atc	p.V305I	CHRNA1_ENST00000261007.5_Missense_Mutation_p.V330I|AC018890.6_ENST00000442996.1_RNA|CHRNA1_ENST00000409219.1_Missense_Mutation_p.V305I|CHRNA1_ENST00000409542.1_Missense_Mutation_p.V223I	NM_000079.3	NP_000070.1	P02708	ACHA_HUMAN	cholinergic receptor, nicotinic, alpha 1 (muscle)	330					muscle cell homeostasis|neuromuscular junction development|neuromuscular process|neuromuscular synaptic transmission|neuron homeostasis|regulation of action potential in neuron|skeletal muscle contraction|skeletal muscle tissue growth	cell junction|cell surface|neuromuscular junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(3)|prostate(3)|skin(4)	37						GAGGCAATGACGAACACCATG	0.537													9	139					0	0	0.335167	0	0	T	175614763	C	T	175614763	3	4	56	1	0	0	0	0	1	0	0	0	3403	536	19	1	472	1	CHRNA1	2	175614763	Missense_Mutation	SNP	C	TCGA-DH-5141-01A-01D-1468-08	23321392	175614763	67584610	7	2360											
PLXNB1	5364	broad.mit.edu	37	3	48461210	48461210	+	Missense_Mutation	SNP	G	G	C			TCGA-DH-5141-01A-01D-1468-08	TCGA-DH-5141-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77c396b-3f9c-4f1a-864e-f92793906b9d	8ab5bff0-41b4-493c-9626-d706d1c6aa38	g.chr3:48461210G>C	ENST00000358536.4	-	11	2754	c.2485C>G	c.(2485-2487)Cca>Gca	p.P829A	PLXNB1_ENST00000448774.2_Intron|PLXNB1_ENST00000358459.4_Intron|PLXNB1_ENST00000456774.1_Intron|PLXNB1_ENST00000296440.6_Missense_Mutation_p.P829A	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN	plexin B1	829	Pro-rich.				axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		ATGGCCCCTGGGAAAGTGGTG	0.701													6	12					0	0	0.248553	0	0	C	48461210	G	C	48461210	3	2	56	1	0	0	0	0	1	0	0	0	12171	1232	43	5	4034	5	PLXNB1	3	48461210	Missense_Mutation	SNP	G	TCGA-DH-5141-01A-01D-1468-08		48461210	149561220	8	2361											
SLC9A9	285195	broad.mit.edu	37	3	143100927	143100932	+	In_Frame_Del	DEL	TTCAGA	TTCAGA	-			TCGA-DH-5141-01A-01D-1468-08	TCGA-DH-5141-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77c396b-3f9c-4f1a-864e-f92793906b9d	8ab5bff0-41b4-493c-9626-d706d1c6aa38	g.chr3:143100927_143100932delTTCAGA	ENST00000316549.6	-	13	1702_1707	c.1494_1499delTCTGAA	c.(1492-1500)aatctgaag>aag	p.NL498del	SLC9A9-AS2_ENST00000490153.1_RNA	NM_173653.3	NP_775924.1	Q8IVB4	SL9A9_HUMAN	solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9	498					regulation of pH	integral to membrane|late endosome membrane|recycling endosome	sodium:hydrogen antiporter activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1)	57						GGGGTCCTCCTTCAGATTTTCATCCA	0.442													8	538	---	---	---	---						-	143100932	TTCAGA	-	143100927	7	5	56	1	0	1	0	1	0	0	0	0	14776	1609	56	0	454	0	SLC9A9	3	143100927	In_Frame_Del	DEL	TTCAGA	TCGA-DH-5141-01A-01D-1468-08	94639717	143100927	54921503	9	2362											
NIPBL	25836	broad.mit.edu	37	5	37008732	37008732	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DH-5141-01A-01D-1468-08	TCGA-DH-5141-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77c396b-3f9c-4f1a-864e-f92793906b9d	8ab5bff0-41b4-493c-9626-d706d1c6aa38	g.chr5:37008732C>G	ENST00000282516.8	+	20	4827	c.4328C>G	c.(4327-4329)tCa>tGa	p.S1443*	NIPBL_ENST00000448238.2_Nonsense_Mutation_p.S1443*	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	1443					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			CAGGTATTCTCAAGATATGAA	0.274													11	211					0	0	0.411799	0	0	G	37008732	C	G	37008732	4	3	56	1	0	0	0	0	0	1	0	0	10475	838	29	5	4402	5	NIPBL	5	37008732	Nonsense_Mutation	SNP	C	TCGA-DH-5141-01A-01D-1468-08		37008732	143906528	10	2363											
C5orf34	375444	broad.mit.edu	37	5	43506030	43506030	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DH-5141-01A-01D-1468-08	TCGA-DH-5141-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77c396b-3f9c-4f1a-864e-f92793906b9d	8ab5bff0-41b4-493c-9626-d706d1c6aa38	g.chr5:43506030C>T	ENST00000306862.2	-	4	1127	c.752G>A	c.(751-753)tGg>tAg	p.W251*	RP11-159F24.3_ENST00000505645.1_RNA	NM_198566.2	NP_940968	Q96MH7	CE034_HUMAN	chromosome 5 open reading frame 34	251										breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|stomach(2)	21	Lung NSC(6;2.07e-05)					AGGATATTTCCATTCCTCTGG	0.408													22	243					0	0	0.608945	0	0	T	43506030	C	T	43506030	4	4	56	1	0	0	0	0	0	1	0	0	2308	595	21	2	1204	2	C5orf34	5	43506030	Nonsense_Mutation	SNP	C	TCGA-DH-5141-01A-01D-1468-08	6497298	43506030	137409230	11	2364											
SHROOM1	134549	broad.mit.edu	37	5	132158586	132158586	+	Missense_Mutation	SNP	T	T	C			TCGA-DH-5141-01A-01D-1468-08	TCGA-DH-5141-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77c396b-3f9c-4f1a-864e-f92793906b9d	8ab5bff0-41b4-493c-9626-d706d1c6aa38	g.chr5:132158586T>C	ENST00000378679.3	-	10	3265	c.2461A>G	c.(2461-2463)Agg>Ggg	p.R821G	SHROOM1_ENST00000378676.1_Missense_Mutation_p.R752G|SHROOM1_ENST00000319854.3_Missense_Mutation_p.R816G	NM_001172700.1	NP_001166171.1	Q2M3G4	SHRM1_HUMAN	shroom family member 1	821	ASD2.				actin filament bundle assembly|cell morphogenesis	cytoplasm|microtubule	actin filament binding			endometrium(1)|kidney(4)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AGGTCGTCCCTGATGGCGTCC	0.672													3	48					0	0	0.115264	0	0	C	132158586	T	C	132158586	3	2	56	1	0	0	0	0	1	0	0	0	14348	1579	55	3	101	3	SHROOM1	5	132158586	Missense_Mutation	SNP	T	TCGA-DH-5141-01A-01D-1468-08	88652556	132158586	48756674	12	2365											
ADRB2	154	broad.mit.edu	37	5	148206922	148206922	+	Silent	SNP	C	C	T			TCGA-DH-5141-01A-01D-1468-08	TCGA-DH-5141-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77c396b-3f9c-4f1a-864e-f92793906b9d	8ab5bff0-41b4-493c-9626-d706d1c6aa38	g.chr5:148206922C>T	ENST00000305988.4	+	1	767	c.528C>T	c.(526-528)gcC>gcT	p.A176A		NM_000024.5	NP_000015	P07550	ADRB2_HUMAN	adrenoceptor beta 2, surface	176					activation of transmembrane receptor protein tyrosine kinase activity|desensitization of G-protein coupled receptor protein signaling pathway by arrestin|endosome to lysosome transport|positive regulation of MAPKKK cascade|receptor-mediated endocytosis	endosome|integral to plasma membrane|lysosome|receptor complex	beta2-adrenergic receptor activity|norepinephrine binding|potassium channel regulator activity|protein homodimerization activity			endometrium(1)|kidney(1)|lung(8)|ovary(1)|prostate(3)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Alprenolol(DB00866)|Arformoterol(DB01274)|Bambuterol(DB01408)|Bisoprolol(DB00612)|Bitolterol(DB00901)|Bretylium(DB01158)|Carteolol(DB00521)|Carvedilol(DB01136)|Clenbuterol(DB01407)|Desipramine(DB01151)|Epinephrine(DB00668)|Fenoterol(DB01288)|Formoterol(DB00983)|Isoproterenol(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Metipranolol(DB01214)|Nadolol(DB01203)|Norepinephrine(DB00368)|Orciprenaline(DB00816)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Pindolol(DB00960)|Pirbuterol(DB01291)|Procaterol(DB01366)|Propranolol(DB00571)|Pseudoephedrine(DB00852)|Ritodrine(DB00867)|Salbutamol(DB01001)|Salmeterol(DB00938)|Terbutaline(DB00871)|Timolol(DB00373)	GGTACCGGGCCACCCACCAGG	0.537													20	275					0	0	0.575678	0	0	T	148206922	C	T	148206922	2	4	56	1	0	0	0	0	0	0	0	1	340	581	21	2		2	ADRB2	5	148206922	Silent	SNP	C	TCGA-DH-5141-01A-01D-1468-08	16048336	148206922	32708338	13	2366											
GRM1	2911	broad.mit.edu	37	6	146720659	146720659	+	Silent	SNP	G	G	C			TCGA-DH-5141-01A-01D-1468-08	TCGA-DH-5141-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77c396b-3f9c-4f1a-864e-f92793906b9d	8ab5bff0-41b4-493c-9626-d706d1c6aa38	g.chr6:146720659G>C	ENST00000392299.2	+	8	2954	c.2484G>C	c.(2482-2484)ggG>ggC	p.G828G	GRM1_ENST00000507907.1_Silent_p.G828G|GRM1_ENST00000355289.4_Silent_p.G828G|GRM1_ENST00000282753.1_Silent_p.G828G|GRM1_ENST00000492807.2_Silent_p.G828G|GRM1_ENST00000361719.2_Silent_p.G828G			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	828					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	TGGCTCTGGGGTGCATGTTCA	0.488													9	116					0	0	0.335167	0	0	C	146720659	G	C	146720659	2	2	56	1	0	0	0	0	0	0	0	1	6837	1248	44	5		5	GRM1	6	146720659	Silent	SNP	G	TCGA-DH-5141-01A-01D-1468-08		146720659	24394408	14	2367											
OSBPL3	26031	broad.mit.edu	37	7	24903215	24903215	+	Missense_Mutation	SNP	A	A	G			TCGA-DH-5141-01A-01D-1468-08	TCGA-DH-5141-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77c396b-3f9c-4f1a-864e-f92793906b9d	8ab5bff0-41b4-493c-9626-d706d1c6aa38	g.chr7:24903215A>G	ENST00000313367.2	-	8	1128	c.677T>C	c.(676-678)cTg>cCg	p.L226P	OSBPL3_ENST00000431825.2_Missense_Mutation_p.L226P|OSBPL3_ENST00000353930.1_Missense_Mutation_p.L226P|OSBPL3_ENST00000396431.1_Missense_Mutation_p.L226P|OSBPL3_ENST00000352860.1_Missense_Mutation_p.L226P|OSBPL3_ENST00000396429.1_Missense_Mutation_p.L226P|OSBPL3_ENST00000409069.1_Missense_Mutation_p.L226P	NM_015550.2	NP_056365.1	Q9H4L5	OSBL3_HUMAN	oxysterol binding protein-like 3	226					lipid transport		lipid binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1)	43						ACAGTGCGCCAGGTCTGTGGG	0.532													7	116					0	0	0.248553	0	0	G	24903215	A	G	24903215	3	3	56	1	0	0	0	0	1	0	0	0	11326	188	7	3	2050	3	OSBPL3	7	24903215	Missense_Mutation	SNP	A	TCGA-DH-5141-01A-01D-1468-08		24903215	134235448	15	2368											
RALYL	138046	broad.mit.edu	37	8	85774590	85774590	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-5141-01A-01D-1468-08	TCGA-DH-5141-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77c396b-3f9c-4f1a-864e-f92793906b9d	8ab5bff0-41b4-493c-9626-d706d1c6aa38	g.chr8:85774590G>A	ENST00000521268.1	+	6	1578	c.473G>A	c.(472-474)cGt>cAt	p.R158H	RALYL_ENST00000521376.1_Missense_Mutation_p.R69H|RALYL_ENST00000518566.1_Missense_Mutation_p.R147H|RALYL_ENST00000517638.1_Missense_Mutation_p.R171H|RALYL_ENST00000521695.1_Missense_Mutation_p.R158H|RALYL_ENST00000522455.1_Missense_Mutation_p.R158H|RALYL_ENST00000523850.1_Missense_Mutation_p.R85H	NM_173848.5	NP_776247.3	Q86SE5	RALYL_HUMAN	RALY RNA binding protein-like	158							identical protein binding|nucleotide binding|RNA binding			endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)	24						CCGCTGAAGCGTCCCAGAGTG	0.507													6	43					0	0	0.248553	0	0	A	85774590	G	A	85774590	3	1	56	1	0	0	0	0	1	0	0	0	13072	1145	40	1	534	1	RALYL	8	85774590	Missense_Mutation	SNP	G	TCGA-DH-5141-01A-01D-1468-08		85774590	60589432	16	2369											
DPYS	1807	broad.mit.edu	37	8	105440214	105440214	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DH-5141-01A-01D-1468-08	TCGA-DH-5141-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77c396b-3f9c-4f1a-864e-f92793906b9d	8ab5bff0-41b4-493c-9626-d706d1c6aa38	g.chr8:105440214delT	ENST00000351513.2	-	6	1218	c.1086delA	c.(1084-1086)aaafs	p.K362fs		NM_001385.2	NP_001376.1	Q14117	DPYS_HUMAN	dihydropyrimidinase	362					protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process	cytosol	dihydropyrimidinase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			CCACCACGCCTTTTTCCCATA	0.478													7	513	---	---	---	---						-	105440214	T	-	105440214	7	5	56	1	0	1	0	1	0	0	0	0	4772	1606	56	0	489	0	DPYS	8	105440214	Frame_Shift_Del	DEL	T	TCGA-DH-5141-01A-01D-1468-08	19665624	105440214	40923808	17	2370											
NFIB	4781	broad.mit.edu	37	9	14307185	14307185	+	Missense_Mutation	SNP	C	C	A			TCGA-DH-5141-01A-01D-1468-08	TCGA-DH-5141-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77c396b-3f9c-4f1a-864e-f92793906b9d	8ab5bff0-41b4-493c-9626-d706d1c6aa38	g.chr9:14307185C>A	ENST00000380959.3	-	2	838	c.365G>T	c.(364-366)cGa>cTa	p.R122L	NFIB_ENST00000397575.3_Missense_Mutation_p.R122L|NFIB_ENST00000380934.4_Missense_Mutation_p.R148L|NFIB_ENST00000380921.3_Missense_Mutation_p.R122L|NFIB_ENST00000380953.1_Missense_Mutation_p.R122L|NFIB_ENST00000397579.2_Missense_Mutation_p.R122L|NFIB_ENST00000397581.2_Missense_Mutation_p.R122L	NM_005596.3	NP_005587.2	O00712	NFIB_HUMAN	nuclear factor I/B	122					anterior commissure morphogenesis|chondrocyte differentiation|Clara cell differentiation|commissural neuron axon guidance|DNA replication|glial cell differentiation|lung ciliated cell differentiation|negative regulation of DNA binding|negative regulation of epithelial cell proliferation involved in lung morphogenesis|negative regulation of mesenchymal cell proliferation involved in lung development|positive regulation of transcription from RNA polymerase II promoter|principal sensory nucleus of trigeminal nerve development|Type I pneumocyte differentiation|Type II pneumocyte differentiation	cerebellar mossy fiber|nucleolus|nucleus	RNA polymerase II transcription corepressor activity|sequence-specific DNA binding RNA polymerase II transcription factor activity			central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(50;4.4e-08)|LUAD - Lung adenocarcinoma(58;0.119)|Lung(218;0.164)		GTCTGCCTGTCGCAGGCAGTC	0.532			T	"MYB, HGMA2"	"adenoid cystic carcinoma, lipoma"								7	196					0.0381472	0.0406351	0.27861	1	0	A	14307185	C	A	14307185	3	1	56	1	0	0	0	0	1	0	0	0	10418	884	31	5	929	5	NFIB	9	14307185	Missense_Mutation	SNP	C	TCGA-DH-5141-01A-01D-1468-08		14307185	126906246	18	2371											
KLF4	9314	broad.mit.edu	37	9	110249405	110249405	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-5141-01A-01D-1468-08	TCGA-DH-5141-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77c396b-3f9c-4f1a-864e-f92793906b9d	8ab5bff0-41b4-493c-9626-d706d1c6aa38	g.chr9:110249405G>A	ENST00000374672.4	-	4	1641	c.1168C>T	c.(1168-1170)Cgg>Tgg	p.R390W		NM_004235.4	NP_004226.3	O43474	KLF4_HUMAN	Kruppel-like factor 4 (gut)	424	Pro-rich.				fat cell differentiation|mesodermal cell fate determination|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|stem cell maintenance|transcription from RNA polymerase II promoter	nucleus	RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor recruiting transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(5)|large_intestine(1)|lung(3)|pancreas(1)|prostate(2)	16						GTCCTTTTCCGGGGCCACGAT	0.587													88	161					0	0	0.870114	0	0	A	110249405	G	A	110249405	3	1	56	1	0	0	0	0	1	0	0	0	8391	1115	39	1	279	1	KLF4	9	110249405	Missense_Mutation	SNP	G	TCGA-DH-5141-01A-01D-1468-08	95942220	110249405	30964026	19	2372											
NLRP14	338323	broad.mit.edu	37	11	7064302	7064302	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-5141-01A-01D-1468-08	TCGA-DH-5141-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77c396b-3f9c-4f1a-864e-f92793906b9d	8ab5bff0-41b4-493c-9626-d706d1c6aa38	g.chr11:7064302G>A	ENST00000299481.4	+	4	1391	c.1045G>A	c.(1045-1047)Gcc>Acc	p.A349T		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	349	NACHT.				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		TAAGAGGTGGGCCATGAAAGT	0.428													26	202					0	0	0.681144	0	0	A	7064302	G	A	7064302	3	1	56	1	0	0	0	0	1	0	0	0	10523	1203	42	2	1055	2	NLRP14	11	7064302	Missense_Mutation	SNP	G	TCGA-DH-5141-01A-01D-1468-08		7064302	127942214	20	2373											
CREB3L1	90993	broad.mit.edu	37	11	46332655	46332655	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-5141-01A-01D-1468-08	TCGA-DH-5141-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77c396b-3f9c-4f1a-864e-f92793906b9d	8ab5bff0-41b4-493c-9626-d706d1c6aa38	g.chr11:46332655G>A	ENST00000529193.1	+	5	1119	c.668G>A	c.(667-669)cGc>cAc	p.R223H	CREB3L1_ENST00000288400.3_Missense_Mutation_p.R223H			Q96BA8	CR3L1_HUMAN	cAMP responsive element binding protein 3-like 1	223					response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		FUS/CREB3L1(6)	NS(2)|breast(1)|large_intestine(4)|lung(2)|ovary(3)	12				GBM - Glioblastoma multiforme(35;0.0285)		CAGAGTCCCCGCTCTCTGCCC	0.687			T	FUS	myxofibrosarcoma								5	88					0	0	0.184627	0	0	A	46332655	G	A	46332655	3	1	56	1	0	0	0	0	1	0	0	0	3879	1087	38	1	686	1	CREB3L1	11	46332655	Missense_Mutation	SNP	G	TCGA-DH-5141-01A-01D-1468-08	39268353	46332655	88673861	21	2374											
AHNAK	79026	broad.mit.edu	37	11	62289982	62289982	+	Silent	SNP	G	G	A			TCGA-DH-5141-01A-01D-1468-08	TCGA-DH-5141-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77c396b-3f9c-4f1a-864e-f92793906b9d	8ab5bff0-41b4-493c-9626-d706d1c6aa38	g.chr11:62289982G>A	ENST00000378024.4	-	5	12181	c.11907C>T	c.(11905-11907)gaC>gaT	p.D3969D	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	3969					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				GAACATCAACGTCCACCTTGG	0.498													45	553					0	0	0.870114	0	0	A	62289982	G	A	62289982	2	1	56	1	0	0	0	0	0	0	0	1	411	1136	40	1		1	AHNAK	11	62289982	Silent	SNP	G	TCGA-DH-5141-01A-01D-1468-08	15957327	62289982	72716534	22	2375											
CATSPER1	117144	broad.mit.edu	37	11	65790440	65790440	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-5141-01A-01D-1468-08	TCGA-DH-5141-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77c396b-3f9c-4f1a-864e-f92793906b9d	8ab5bff0-41b4-493c-9626-d706d1c6aa38	g.chr11:65790440G>A	ENST00000312106.5	-	2	1446	c.1309C>T	c.(1309-1311)Cgg>Tgg	p.R437W		NM_053054.3	NP_444282.3	Q8NEC5	CTSR1_HUMAN	cation channel, sperm associated 1	437					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	protein binding			breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						ATCATTTCCCGGAAGCCCTGA	0.557											OREG0021092	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	70	109					0	0	0.870114	0	0	A	65790440	G	A	65790440	3	1	56	1	0	0	0	0	1	0	0	0	2705	1115	39	1	1077	1	CATSPER1	11	65790440	Missense_Mutation	SNP	G	TCGA-DH-5141-01A-01D-1468-08	3500458	65790440	69216076	23	2376											
MYO7A	4647	broad.mit.edu	37	11	76922334	76922334	+	Silent	SNP	G	G	A			TCGA-DH-5141-01A-01D-1468-08	TCGA-DH-5141-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77c396b-3f9c-4f1a-864e-f92793906b9d	8ab5bff0-41b4-493c-9626-d706d1c6aa38	g.chr11:76922334G>A	ENST00000409709.3	+	45	6461	c.6189G>A	c.(6187-6189)ctG>ctA	p.L2063L	MYO7A_ENST00000605744.1_3'UTR|MYO7A_ENST00000458637.2_Silent_p.L2025L|MYO7A_ENST00000409619.2_Silent_p.L2014L	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	2063	FERM 2.				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						TGCGGGAGCTGGTGCCCCAGG	0.652													2	5					0	0	0.115264	0	0	A	76922334	G	A	76922334	2	1	56	1	0	0	0	0	0	0	0	1	10130	1335	47	2		2	MYO7A	11	76922334	Silent	SNP	G	TCGA-DH-5141-01A-01D-1468-08	11131894	76922334	58084182	24	2377											
LGR5	8549	broad.mit.edu	37	12	71978453	71978453	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-5141-01A-01D-1468-08	TCGA-DH-5141-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77c396b-3f9c-4f1a-864e-f92793906b9d	8ab5bff0-41b4-493c-9626-d706d1c6aa38	g.chr12:71978453C>T	ENST00000266674.5	+	18	2974	c.2663C>T	c.(2662-2664)cCa>cTa	p.P888L	LGR5_ENST00000540815.2_Missense_Mutation_p.P864L|LGR5_ENST00000536515.1_Missense_Mutation_p.P816L			O75473	LGR5_HUMAN	leucine-rich repeat containing G protein-coupled receptor 5	888						integral to plasma membrane	protein-hormone receptor activity		NUP107/LGR5(2)	endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						GTGCCATCACCAGCTTATCCA	0.458													86	177					0	0	0.870114	0	0	T	71978453	C	T	71978453	3	4	56	1	0	0	0	0	1	0	0	0	8797	594	21	2	2733	2	LGR5	12	71978453	Missense_Mutation	SNP	C	TCGA-DH-5141-01A-01D-1468-08		71978453	61873442	25	2378											
NRL	4901	broad.mit.edu	37	14	24551825	24551826	+	Frame_Shift_Ins	INS	-	-	G			TCGA-DH-5141-01A-01D-1468-08	TCGA-DH-5141-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77c396b-3f9c-4f1a-864e-f92793906b9d	8ab5bff0-41b4-493c-9626-d706d1c6aa38	g.chr14:24551825_24551826insG	ENST00000561028.1	-	2	551_552	c.232_233insC	c.(232-234)ctgfs	p.L78fs	NRL_ENST00000396997.1_Frame_Shift_Ins_p.L78fs|NRL_ENST00000397002.2_Frame_Shift_Ins_p.L78fs			P54845	NRL_HUMAN	neural retina leucine zipper	78					response to stimulus|transcription from RNA polymerase II promoter|visual perception	nucleus	leucine zipper domain binding|sequence-specific DNA binding			lung(2)	2				GBM - Glioblastoma multiforme(265;0.0181)		CTGCTGCTGCAGGGTAGCCAGC	0.663													7	53	---	---	---	---						G	24551826	-	G	24551825	7	5	56	1	0	1	1	0	0	0	0	0	10704	188	7	0	488	0	NRL	14	24551825	Frame_Shift_Ins	INS	-	TCGA-DH-5141-01A-01D-1468-08		24551825	82797715	26	2379											
IDH2	3418	broad.mit.edu	37	15	90631838	90631838	+	Missense_Mutation	SNP	C	C	T	rs121913503		TCGA-DH-5141-01A-01D-1468-08	TCGA-DH-5141-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77c396b-3f9c-4f1a-864e-f92793906b9d	8ab5bff0-41b4-493c-9626-d706d1c6aa38	g.chr15:90631838C>T	ENST00000330062.3	-	4	628	c.515G>A	c.(514-516)aGg>aAg	p.R172K	IDH2_ENST00000559482.1_Intron|IDH2_ENST00000539790.1_Missense_Mutation_p.R42K|IDH2_ENST00000540499.2_Missense_Mutation_p.R120K	NM_002168.2	NP_002159.2	P48735	IDHP_HUMAN	isocitrate dehydrogenase 2 (NADP+), mitochondrial	172					2-oxoglutarate metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding	p.R172K(116)|p.R172M(21)|p.R172N(1)		biliary_tract(11)|bone(19)|central_nervous_system(107)|endometrium(1)|haematopoietic_and_lymphoid_tissue(953)|large_intestine(8)|lung(5)|skin(5)	1109	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.106)			ATGGGCGTGCCTGCCAATGGT	0.632			M		GBM								51	71					0	0	0.870114	0	0	T	90631838	C	T	90631838	3	4	56	1	0	0	0	0	1	0	0	0	7539	681	24	2	875	2	IDH2	15	90631838	Missense_Mutation	SNP	C	TCGA-DH-5141-01A-01D-1468-08		90631838	11899554	27	2380											
CHMP1A	5119	broad.mit.edu	37	16	89715806	89715806	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-5141-01A-01D-1468-08	TCGA-DH-5141-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77c396b-3f9c-4f1a-864e-f92793906b9d	8ab5bff0-41b4-493c-9626-d706d1c6aa38	g.chr16:89715806C>T	ENST00000397901.3	-	4	461	c.205G>A	c.(205-207)Gta>Ata	p.V69I	CHMP1A_ENST00000253475.5_Missense_Mutation_p.R62H|CHMP1A_ENST00000550102.1_Missense_Mutation_p.V69I|CHMP1A_ENST00000535997.2_Missense_Mutation_p.V5I|CHMP1A_ENST00000547614.1_5'UTR	NM_002768.3	NP_002759.2	Q9HD42	CHM1A_HUMAN	charged multivesicular body protein 1A	69					cell division|gene silencing|mitotic chromosome condensation|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription by glucose|protein transport|transcription, DNA-dependent|vesicle-mediated transport	condensed nuclear chromosome|early endosome|endomembrane system|endosome membrane|microtubule organizing center|nuclear matrix	metallopeptidase activity|protein domain specific binding|zinc ion binding			endometrium(1)|large_intestine(1)|ovary(1)	3		all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.048)		ACTGCGTCTACGCGGGACGCC	0.597													67	137					0	0	0.870114	0	0	T	89715806	C	T	89715806	3	4	56	1	0	0	0	0	1	0	0	0	3374	536	19	1	553	1	CHMP1A	16	89715806	Missense_Mutation	SNP	C	TCGA-DH-5141-01A-01D-1468-08		89715806	638947	28	2381											
RAB11FIP4	84440	broad.mit.edu	37	17	29855551	29855551	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-5141-01A-01D-1468-08	TCGA-DH-5141-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77c396b-3f9c-4f1a-864e-f92793906b9d	8ab5bff0-41b4-493c-9626-d706d1c6aa38	g.chr17:29855551C>T	ENST00000325874.8	+	12	1713	c.1484C>T	c.(1483-1485)gCg>gTg	p.A495V	RAB11FIP4_ENST00000394744.2_Missense_Mutation_p.A393V	NM_032932.3	NP_116321.2	Q86YS3	RFIP4_HUMAN	RAB11 family interacting protein 4 (class II)	495	Necessary for interaction with RAB11A, subcellular location, homo- or heterooligomerization.				cytokinesis|interspecies interaction between organisms|protein transport	cleavage furrow|endocytic vesicle|midbody|recycling endosome membrane	ADP-ribosylation factor binding|calcium ion binding|protein homodimerization activity|Rab GTPase binding			endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(10;3.62e-13)|all_epithelial(10;0.000387)|all_lung(9;0.0132)|Breast(31;0.014)|all_hematologic(16;0.015)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0259)|Ovarian(249;0.0423)|Lung NSC(157;0.066)				GAGCGGGAGGCGACGCAGGAG	0.612													7	138					0	0	0.307466	0	0	T	29855551	C	T	29855551	3	4	56	1	0	0	0	0	1	0	0	0	12948	768	27	1	1530	1	RAB11FIP4	17	29855551	Missense_Mutation	SNP	C	TCGA-DH-5141-01A-01D-1468-08		29855551	51339659	29	2382											
KRT36	8689	broad.mit.edu	37	17	39642800	39642800	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-5141-01A-01D-1468-08	TCGA-DH-5141-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77c396b-3f9c-4f1a-864e-f92793906b9d	8ab5bff0-41b4-493c-9626-d706d1c6aa38	g.chr17:39642800G>A	ENST00000393986.2	-	8	1294	c.1082C>T	c.(1081-1083)aCg>aTg	p.T361M	KRT36_ENST00000328119.6_Missense_Mutation_p.T411M			O76013	KRT36_HUMAN	keratin 36	411	Coil 2.|Rod.					intermediate filament	protein binding|structural constituent of epidermis			breast(2)|cervix(1)|kidney(2)|large_intestine(3)|lung(8)|skin(1)	17		Breast(137;0.000286)				CTTGCATGCCGTGGCACAAGG	0.577													4	25					0	0	0.184627	0	0	A	39642800	G	A	39642800	3	1	56	1	0	0	0	0	1	0	0	0	8516	1145	40	1	175	1	KRT36	17	39642800	Missense_Mutation	SNP	G	TCGA-DH-5141-01A-01D-1468-08	9787249	39642800	41552410	30	2383											
CDH20	28316	broad.mit.edu	37	18	59174700	59174700	+	Silent	SNP	G	G	A			TCGA-DH-5141-01A-01D-1468-08	TCGA-DH-5141-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77c396b-3f9c-4f1a-864e-f92793906b9d	8ab5bff0-41b4-493c-9626-d706d1c6aa38	g.chr18:59174700G>A	ENST00000262717.4	+	6	1322	c.924G>A	c.(922-924)gaG>gaA	p.E308E	CDH20_ENST00000536675.2_Silent_p.E308E|CDH20_ENST00000538374.1_Silent_p.E308E			Q9HBT6	CAD20_HUMAN	cadherin 20, type 2	308	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				TCAATGCAGAGATGAAATATA	0.433													13	133					0	0	0.457914	0	0	A	59174700	G	A	59174700	2	1	56	1	0	0	0	0	0	0	0	1	3128	933	33	2		2	CDH20	18	59174700	Silent	SNP	G	TCGA-DH-5141-01A-01D-1468-08		59174700	18902548	31	2384											
SERPINB3	6317	broad.mit.edu	37	18	61323264	61323264	+	Missense_Mutation	SNP	A	A	C			TCGA-DH-5141-01A-01D-1468-08	TCGA-DH-5141-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77c396b-3f9c-4f1a-864e-f92793906b9d	8ab5bff0-41b4-493c-9626-d706d1c6aa38	g.chr18:61323264A>C	ENST00000283752.5	-	8	943	c.800T>G	c.(799-801)aTg>aGg	p.M267R	SERPINB3_ENST00000332821.8_Missense_Mutation_p.M215R|SERPINB11_ENST00000489748.1_RNA	NM_006919.2	NP_008850.1	P29508	SPB3_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 3	267					regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	36						TGTCCATTCCATCAATTTCTC	0.378													26	115					0	0	0.706142	0	0	C	61323264	A	C	61323264	3	2	56	1	0	0	0	0	1	0	0	0	14156	217	8	4	376	4	SERPINB3	18	61323264	Missense_Mutation	SNP	A	TCGA-DH-5141-01A-01D-1468-08	2148564	61323264	16753984	32	2385											
DMRTC2	63946	broad.mit.edu	37	19	42353197	42353197	+	Splice_Site	SNP	G	G	A			TCGA-DH-5141-01A-01D-1468-08	TCGA-DH-5141-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77c396b-3f9c-4f1a-864e-f92793906b9d	8ab5bff0-41b4-493c-9626-d706d1c6aa38	g.chr19:42353197G>A	ENST00000269945.3	+	6	679		c.e6-1		DMRTC2_ENST00000596827.1_Splice_Site	NM_001040283.1	NP_001035373.1	Q8IXT2	DMRTD_HUMAN	DMRT-like family C2						cell differentiation|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	10						ATTCTTATTAGGCTTTGACCC	0.527													6	181					0	0	0.248553	0	0	A	42353197	G	A	42353197	5	1	56	1	0	0	0	0	0	0	1	0	4619	1014	35	2	646	2	DMRTC2	19	42353197	Splice_Site	SNP	G	TCGA-DH-5141-01A-01D-1468-08		42353197	16775786	33	2386											
CIC	23152	broad.mit.edu	37	19	42797299	42797300	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-DH-5141-01A-01D-1468-08	TCGA-DH-5141-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77c396b-3f9c-4f1a-864e-f92793906b9d	8ab5bff0-41b4-493c-9626-d706d1c6aa38	g.chr19:42797299_42797300delTC	ENST00000572681.2	+	16	6450_6451	c.6382_6383delTC	c.(6382-6384)tctfs	p.S2128fs	CIC_ENST00000575354.2_Frame_Shift_Del_p.S1221fs|CIC_ENST00000160740.3_Frame_Shift_Del_p.S1219fs			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	1221					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				TGCCCCAGAGTCTGAGCTTGAG	0.718			"Mis, F, S"		oligodendroglioma								9	7	---	---	---	---						-	42797300	TC	-	42797299	7	5	56	1	0	1	0	1	0	0	0	0	3446	1667	58	0	3719	0	CIC	19	42797299	Frame_Shift_Del	DEL	TC	TCGA-DH-5141-01A-01D-1468-08	444102	42797299	16331684	34	2387											
PCSK2	5126	broad.mit.edu	37	20	17434533	17434533	+	Silent	SNP	C	C	T			TCGA-DH-5141-01A-01D-1468-08	TCGA-DH-5141-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77c396b-3f9c-4f1a-864e-f92793906b9d	8ab5bff0-41b4-493c-9626-d706d1c6aa38	g.chr20:17434533C>T	ENST00000262545.2	+	9	1347	c.1032C>T	c.(1030-1032)gaC>gaT	p.D344D	PCSK2_ENST00000377899.1_Silent_p.D325D|PCSK2_ENST00000536609.1_Silent_p.D309D	NM_002594.3	NP_002585.2	P16519	NEC2_HUMAN	proprotein convertase subtilisin/kexin type 2	344	Catalytic.				enkephalin processing|insulin processing|islet amyloid polypeptide processing	extracellular space|membrane|soluble fraction|transport vesicle	serine-type endopeptidase activity	p.D344D(1)		breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CCCTGTACGACGAGAGCTGCT	0.597													20	129					0	0	0.654019	0	0	T	17434533	C	T	17434533	2	4	56	1	0	0	0	0	0	0	0	1	11648	535	19	1		1	PCSK2	20	17434533	Silent	SNP	C	TCGA-DH-5141-01A-01D-1468-08		17434533	45590987	35	2388											
PI4KA	5297	broad.mit.edu	37	22	21115635	21115635	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-5141-01A-01D-1468-08	TCGA-DH-5141-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77c396b-3f9c-4f1a-864e-f92793906b9d	8ab5bff0-41b4-493c-9626-d706d1c6aa38	g.chr22:21115635C>T	ENST00000255882.6	-	23	2834	c.2748G>A	c.(2746-2748)atG>atA	p.M916I	PI4KA_ENST00000572273.1_Missense_Mutation_p.M858I|PI4KA_ENST00000466162.1_5'UTR	NM_058004.3	NP_477352.3	P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	858					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			AGTAGCAGAACATTACCTGGA	0.368													11	115					0	0	0.38729	0	0	T	21115635	C	T	21115635	3	4	56	1	0	0	0	0	1	0	0	0	11921	478	17	2	3692	2	PI4KA	22	21115635	Missense_Mutation	SNP	C	TCGA-DH-5141-01A-01D-1468-08		21115635	30188931	36	2389											
MAST2	23139	broad.mit.edu	37	1	46295226	46295226	+	Missense_Mutation	SNP	G	G	T			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr1:46295226G>T	ENST00000361297.2	+	3	724	c.441G>T	c.(439-441)caG>caT	p.Q147H	MAST2_ENST00000372009.2_Missense_Mutation_p.Q147H	NM_015112.2	NP_055927.2	Q6P0Q8	MAST2_HUMAN	microtubule associated serine/threonine kinase 2	147					regulation of interleukin-12 biosynthetic process|spermatid differentiation	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity			breast(1)|lung(3)|ovary(5)|stomach(2)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)					CCCTTGGACAGTCTGCACCTT	0.448													3	146					0.00909568	0.00982752	0.150653	1	0	T	46295226	G	T	46295226	3	4	57	1	0	0	0	0	1	0	0	0	9375	1020	36	4	451	4	MAST2	1	46295226	Missense_Mutation	SNP	G	TCGA-DH-5142-01A-01D-1468-08		46295226	202955395	1	2390											
C1orf168	199920	broad.mit.edu	37	1	57258301	57258301	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr1:57258301C>T	ENST00000343433.6	-	2	265	c.185G>A	c.(184-186)cGc>cAc	p.R62H	C1orf168_ENST00000484327.1_5'UTR	NM_001004303.4	NP_001004303.3	Q5VWT5	CA168_HUMAN	chromosome 1 open reading frame 168	62										NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2)	46						GTATGGTGTGCGCTGCTTGTG	0.473													15	322					0	0	0.132662	0	0	T	57258301	C	T	57258301	3	4	57	1	0	0	0	0	1	0	0	0	2025	768	27	1	2077	1	C1orf168	1	57258301	Missense_Mutation	SNP	C	TCGA-DH-5142-01A-01D-1468-08	10963075	57258301	191992320	2	2391											
KANK4	163782	broad.mit.edu	37	1	62739569	62739569	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr1:62739569C>T	ENST00000371153.4	-	3	1585	c.1207G>A	c.(1207-1209)Gcc>Acc	p.A403T	KANK4_ENST00000354381.3_Intron	NM_181712.4	NP_859063.3	Q5T7N3	KANK4_HUMAN	KN motif and ankyrin repeat domains 4	403										NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						GTGTCTTTGGCGTTCTCTTGG	0.517													5	325					0	0	0.021553	0	0	T	62739569	C	T	62739569	3	4	57	1	0	0	0	0	1	0	0	0	8023	768	27	1	1812	1	KANK4	1	62739569	Missense_Mutation	SNP	C	TCGA-DH-5142-01A-01D-1468-08	5481268	62739569	186511052	3	2392											
AMY2B	280	broad.mit.edu	37	1	104115689	104115689	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr1:104115689G>A	ENST00000361355.4	+	5	936	c.320G>A	c.(319-321)cGt>cAt	p.R107H	AMY2B_ENST00000491397.1_3'UTR	NM_020978.3	NP_066188.1	P19961	AMY2B_HUMAN	amylase, alpha 2B (pancreatic)	107					carbohydrate metabolic process|digestion	extracellular region	alpha-amylase activity|metal ion binding			breast(1)|endometrium(7)|kidney(4)|large_intestine(1)|lung(30)|prostate(1)|skin(1)|urinary_tract(1)	46		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112)		TTCTAGGTTCGTATTTATGTG	0.368													146	793					0	0	0.139131	0	0	A	104115689	G	A	104115689	3	1	57	1	0	0	0	0	1	0	0	0	591	1145	40	1	330	1	AMY2B	1	104115689	Missense_Mutation	SNP	G	TCGA-DH-5142-01A-01D-1468-08	41376120	104115689	145134932	4	2393											
MUC1	4582	broad.mit.edu	37	1	155160204	155160204	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr1:155160204C>T	ENST00000368395.1	-	5	1146	c.1075G>A	c.(1075-1077)Gtc>Atc	p.V359I	MUC1_ENST00000462215.1_5'UTR|MUC1_ENST00000343256.5_Intron|MUC1_ENST00000368398.3_Missense_Mutation_p.V114I|MUC1_ENST00000368396.4_Intron|MUC1_ENST00000338684.5_Missense_Mutation_p.V108I|MUC1_ENST00000368389.2_Intron|MUC1_ENST00000457295.2_Missense_Mutation_p.V148I|MUC1_ENST00000368392.3_Missense_Mutation_p.V148I|MUC1_ENST00000368393.3_Missense_Mutation_p.V157I|MUC1_ENST00000337604.5_Missense_Mutation_p.V157I|MUC1_ENST00000438413.1_Missense_Mutation_p.V113I|MUC1_ENST00000368390.3_Missense_Mutation_p.V139I|MUC1_ENST00000342482.4_Intron	NM_001204285.1|NM_001204286.1	NP_001191214.1|NP_001191215.1	P15941	MUC1_HUMAN	mucin 1, cell surface associated	1139	42 X 20 AA approximate tandem repeats of P-A-P-G-S-T-A-P-P-A-H-G-V-T-S-A-P-D-T-R.					apical plasma membrane|cell surface|cytoplasm|extracellular region|integral to plasma membrane|nucleus	protein binding			breast(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|skin(2)	10	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;5.31e-10)|all cancers(21;2.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			TCACCGCTGACGTCTGAGATC	0.577			T	IGH@	B-NHL								6	58					0	0	0.038147	0	0	T	155160204	C	T	155160204	3	4	57	1	0	0	0	0	1	0	0	0	10018	536	19	1	368	1	MUC1	1	155160204	Missense_Mutation	SNP	C	TCGA-DH-5142-01A-01D-1468-08	51044515	155160204	94090417	5	2394											
AIM2	9447	broad.mit.edu	37	1	159035847	159035847	+	Silent	SNP	G	G	A	rs148686373		TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr1:159035847G>A	ENST00000368130.4	-	4	957	c.669C>T	c.(667-669)agC>agT	p.S223S		NM_004833.1	NP_004824.1	O14862	AIM2_HUMAN	absent in melanoma 2	223	HIN-200.				cellular response to drug|immune response|interleukin-1 beta secretion	mitochondrion|nucleus				breast(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(1)	16	all_hematologic(112;0.0429)					CACGTGAGGCGCTATTTACCT	0.368													32	311					0	0	0.153744	0	0	A	159035847	G	A	159035847	2	1	57	1	0	0	0	0	0	0	0	1	429	1078	38	1		1	AIM2	1	159035847	Silent	SNP	G	TCGA-DH-5142-01A-01D-1468-08	3875643	159035847	90214774	6	2395											
KIAA1614	57710	broad.mit.edu	37	1	180904728	180904728	+	Silent	SNP	G	G	A			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr1:180904728G>A	ENST00000367588.4	+	5	1738	c.1683G>A	c.(1681-1683)caG>caA	p.Q561Q	KIAA1614_ENST00000367587.1_Silent_p.Q182Q	NM_020950.1	NP_066001.1	Q5VZ46	K1614_HUMAN	KIAA1614	561										NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						GGACCCTCCAGGAGCTCCAGG	0.726													3	32					0	0	0.115264	0	0	A	180904728	G	A	180904728	2	1	57	1	0	0	0	0	0	0	0	1	8290	991	35	2		2	KIAA1614	1	180904728	Silent	SNP	G	TCGA-DH-5142-01A-01D-1468-08	21868881	180904728	68345893	7	2396											
RNASEL	6041	broad.mit.edu	37	1	182554707	182554707	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr1:182554707C>T	ENST00000367559.3	-	2	1488	c.1235G>A	c.(1234-1236)cGa>cAa	p.R412Q	RNASEL_ENST00000539397.1_Missense_Mutation_p.R412Q|RNASEL_ENST00000444138.1_Missense_Mutation_p.R412Q	NM_021133.3	NP_066956.1	Q05823	RN5A_HUMAN	ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent)	412	Protein kinase.				mRNA processing|response to virus|type I interferon-mediated signaling pathway	mitochondrion	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|metal ion binding|protein kinase activity|RNA binding			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(1)	27						ACTGTTCTCTCGGCTGCTTTG	0.532													14	175					0	0	0.146539	0	0	T	182554707	C	T	182554707	3	4	57	1	0	0	0	0	1	0	0	0	13468	884	31	1	1014	1	RNASEL	1	182554707	Missense_Mutation	SNP	C	TCGA-DH-5142-01A-01D-1468-08	1649979	182554707	66695914	8	2397											
FMOD	2331	broad.mit.edu	37	1	203316988	203316988	+	Silent	SNP	G	G	A	rs141206727		TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr1:203316988G>A	ENST00000354955.4	-	2	874	c.411C>T	c.(409-411)caC>caT	p.H137H	FMOD_ENST00000493296.1_Intron	NM_002023.4	NP_002014.2	Q06828	FMOD_HUMAN	fibromodulin	137					transforming growth factor beta receptor complex assembly	extracellular space|proteinaceous extracellular matrix				breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	17			BRCA - Breast invasive adenocarcinoma(75;0.171)			TCTGGTTGCCGTGGAGAGCAA	0.557													5	170					0	0	0.021553	0	0	A	203316988	G	A	203316988	2	1	57	1	0	0	0	0	0	0	0	1	5992	1136	40	1		1	FMOD	1	203316988	Silent	SNP	G	TCGA-DH-5142-01A-01D-1468-08	20762281	203316988	45933633	9	2398											
EPRS	2058	broad.mit.edu	37	1	220195728	220195728	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr1:220195728C>T	ENST00000366923.3	-	9	1345	c.1076G>A	c.(1075-1077)tGc>tAc	p.C359Y		NM_004446.2	NP_004437.2	P07814	SYEP_HUMAN	glutamyl-prolyl-tRNA synthetase	359	Glutamyl-tRNA synthetase.				glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly	cytosol|soluble fraction	ATP binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding|RNA binding			breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3)	63				GBM - Glioblastoma multiforme(131;0.0735)	L-Glutamic Acid(DB00142)|L-Proline(DB00172)	TTGAATTTTGCAGCGATAAAG	0.378													7	406					0	0	0.02938	0	0	T	220195728	C	T	220195728	3	4	57	1	0	0	0	0	1	0	0	0	5219	710	25	2	3558	2	EPRS	1	220195728	Missense_Mutation	SNP	C	TCGA-DH-5142-01A-01D-1468-08	16878740	220195728	29054893	10	2399											
HEATR1	55127	broad.mit.edu	37	1	236724539	236724539	+	Silent	SNP	T	T	C			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr1:236724539T>C	ENST00000366582.3	-	33	4746	c.4632A>G	c.(4630-4632)aaA>aaG	p.K1544K	HEATR1_ENST00000366581.2_Silent_p.K1463K	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	1544					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			CTTCAAGGCCTTTTAAAATCT	0.323													3	210					0	0	0.150653	0	0	C	236724539	T	C	236724539	2	2	57	1	0	0	0	0	0	0	0	1	7068	1606	56	3		3	HEATR1	1	236724539	Silent	SNP	T	TCGA-DH-5142-01A-01D-1468-08	16528811	236724539	12526082	11	2400											
NTSR2	23620	broad.mit.edu	37	2	11798782	11798782	+	Silent	SNP	A	A	T			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr2:11798782A>T	ENST00000306928.5	-	4	1090	c.1056T>A	c.(1054-1056)gcT>gcA	p.A352A		NM_012344.3	NP_036476	O95665	NTR2_HUMAN	neurotensin receptor 2	352					sensory perception	integral to plasma membrane				breast(1)|large_intestine(7)|lung(7)|prostate(1)|urinary_tract(1)	17	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.129)|OV - Ovarian serous cystadenocarcinoma(76;0.24)	Levocabastine(DB01106)	GAGGAGTCACAGCTGAGCTGA	0.532													4	174					0	0	0.014758	0	0	T	11798782	A	T	11798782	2	4	57	1	0	0	0	0	0	0	0	1	10759	175	7	5		5	NTSR2	2	11798782	Silent	SNP	A	TCGA-DH-5142-01A-01D-1468-08		11798782	231400591	12	2401											
SNX17	9784	broad.mit.edu	37	2	27599364	27599364	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr2:27599364C>T	ENST00000233575.2	+	14	1498	c.1276C>T	c.(1276-1278)Cgg>Tgg	p.R426W	SNX17_ENST00000543024.1_Missense_Mutation_p.R212W|SNX17_ENST00000537606.1_Missense_Mutation_p.R401W|SNX17_ENST00000542478.1_Missense_Mutation_p.R212W	NM_001267059.1|NM_001267061.1|NM_014748.3	NP_001253988.1|NP_001253990.1|NP_055563.1	Q15036	SNX17_HUMAN	sorting nexin 17	426					cell communication|endosome transport|intracellular protein transport|regulation of endocytosis|signal transduction	cytoplasmic vesicle membrane|cytosol|early endosome|Golgi apparatus	low-density lipoprotein particle receptor binding|phosphatidylinositol binding|protein C-terminus binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGATGCCACCCGGGAGTCTAT	0.572													77	258					0	0	0.139131	0	0	T	27599364	C	T	27599364	3	4	57	1	0	0	0	0	1	0	0	0	14942	643	23	1	1330	1	SNX17	2	27599364	Missense_Mutation	SNP	C	TCGA-DH-5142-01A-01D-1468-08	15800582	27599364	215600009	13	2402											
MGAT4A	11320	broad.mit.edu	37	2	99279632	99279632	+	Silent	SNP	G	G	A			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr2:99279632G>A	ENST00000264968.3	-	4	777	c.414C>T	c.(412-414)gtC>gtT	p.V138V	MGAT4A_ENST00000393487.1_Silent_p.V138V|MGAT4A_ENST00000409391.1_Silent_p.V138V|MGAT4A_ENST00000414521.2_Silent_p.V10V|MGAT4A_ENST00000461884.1_5'UTR			Q9UM21	MGT4A_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme A						N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	extracellular region|Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|stomach(1)	19						GAATGCCCATGACTATTGAAA	0.323													6	469					0	0	0.021553	0	0	A	99279632	G	A	99279632	2	1	57	1	0	0	0	0	0	0	0	1	9595	1277	45	2		2	MGAT4A	2	99279632	Silent	SNP	G	TCGA-DH-5142-01A-01D-1468-08	71680268	99279632	143919741	14	2403											
PTPN18	26469	broad.mit.edu	37	2	131116491	131116491	+	Missense_Mutation	SNP	G	G	A	rs11892325	byFrequency	TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr2:131116491G>A	ENST00000175756.5	+	2	246	c.145G>A	c.(145-147)Gtg>Atg	p.V49M	PTPN18_ENST00000420717.1_3'UTR|PTPN18_ENST00000347849.3_Intron	NM_014369.3	NP_055184.2	Q99952	PTN18_HUMAN	protein tyrosine phosphatase, non-receptor type 18 (brain-derived)	49	Tyrosine-protein phosphatase.					cytoplasm|nucleus	non-membrane spanning protein tyrosine phosphatase activity			endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(3)|prostate(1)	15	Colorectal(110;0.1)					GTGCTCCACCGTGGCCGGCAG	0.627													56	136					0	0	0.139131	0	0	A	131116491	G	A	131116491	3	1	57	1	0	0	0	0	1	0	0	0	12834	1145	40	1	151	1	PTPN18	2	131116491	Missense_Mutation	SNP	G	TCGA-DH-5142-01A-01D-1468-08	31836859	131116491	112082882	15	2404											
LRP1B	53353	broad.mit.edu	37	2	141528521	141528521	+	Missense_Mutation	SNP	G	G	T			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr2:141528521G>T	ENST00000389484.3	-	34	6526	c.5555C>A	c.(5554-5556)aCa>aAa	p.T1852K		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1852	EGF-like 4.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		AGTTTCAGATGTTGGTAAACA	0.353										TSP Lung(27;0.18)			13	215					0.00010058	0.000112554	0.09319	1	0	T	141528521	G	T	141528521	3	4	57	1	0	0	0	0	1	0	0	0	9000	1377	48	5	8476	5	LRP1B	2	141528521	Missense_Mutation	SNP	G	TCGA-DH-5142-01A-01D-1468-08	10412030	141528521	101670852	16	2405											
NEB	4703	broad.mit.edu	37	2	152342397	152342397	+	Silent	SNP	C	C	T			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr2:152342397C>T	ENST00000427231.2	-	182	25657	c.25455G>A	c.(25453-25455)gtG>gtA	p.V8485V	NEB_ENST00000172853.10_Silent_p.V6629V|NEB_ENST00000397336.2_Silent_p.V460V|NEB_ENST00000409198.1_Silent_p.V6629V|NEB_ENST00000603639.1_Silent_p.V8485V|NEB_ENST00000604864.1_Silent_p.V8485V|NEB_ENST00000509223.2_Silent_p.V398V|NEB_ENST00000397345.3_Silent_p.V8485V	NM_001164507.1|NM_001271208.1	NP_001157979|NP_001258137.1	P20929	NEBU_HUMAN	nebulin	6629					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CCTTGAAGGACACCTCATCTG	0.458													67	130					0	0	0.139131	0	0	T	152342397	C	T	152342397	2	4	57	1	0	0	0	0	0	0	0	1	10349	465	17	2		2	NEB	2	152342397	Silent	SNP	C	TCGA-DH-5142-01A-01D-1468-08	10813876	152342397	90856976	17	2406											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								41	66					0	0	0.086207	0	0	T	209113112	C	T	209113112	3	4	57	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-DH-5142-01A-01D-1468-08	56770715	209113112	34086261	18	2407											
C2orf62	375307	broad.mit.edu	37	2	219232561	219232561	+	Silent	SNP	C	C	T			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr2:219232561C>T	ENST00000289388.3	+	10	1067	c.1038C>T	c.(1036-1038)ttC>ttT	p.F346F	C2orf62_ENST00000481940.1_3'UTR	NM_198559.1	NP_940961.1	Q7Z7H3	CB062_HUMAN	chromosome 2 open reading frame 62	346										endometrium(4)|kidney(2)|large_intestine(4)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	16		Renal(207;0.0915)		Epithelial(149;8.08e-07)|all cancers(144;0.000146)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGGTCACCTTCGCCGCCGAGT	0.701													6	53					0	0	0.021553	0	0	T	219232561	C	T	219232561	2	4	57	1	0	0	0	0	0	0	0	1	2195	883	31	1		1	C2orf62	2	219232561	Silent	SNP	C	TCGA-DH-5142-01A-01D-1468-08	10119449	219232561	23966812	19	2408											
CCDC158	339965	broad.mit.edu	37	4	77244544	77244544	+	Missense_Mutation	SNP	A	A	G			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr4:77244544A>G	ENST00000388914.3	-	23	3328	c.3176T>C	c.(3175-3177)aTa>aCa	p.I1059T		NM_001042784.1	NP_001036249.1	Q5M9N0	CD158_HUMAN	coiled-coil domain containing 158	1059										breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						TGTTGTTTCTATTGGCGGAGA	0.353													35	343					0	0	0.173368	0	0	G	77244544	A	G	77244544	3	3	57	1	0	0	0	0	1	0	0	0	2809	449	16	3	173	3	CCDC158	4	77244544	Missense_Mutation	SNP	A	TCGA-DH-5142-01A-01D-1468-08		77244544	113909732	20	2409											
CCNG2	901	broad.mit.edu	37	4	78081991	78081991	+	Nonsense_Mutation	SNP	A	A	T			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr4:78081991A>T	ENST00000316355.5	+	4	750	c.394A>T	c.(394-396)Aaa>Taa	p.K132*	CCNG2_ENST00000354403.5_Nonsense_Mutation_p.K132*|CCNG2_ENST00000502280.1_Nonsense_Mutation_p.K132*|CCNG2_ENST00000497512.1_3'UTR|CCNG2_ENST00000509972.1_Nonsense_Mutation_p.K132*|CCNG2_ENST00000395640.1_Nonsense_Mutation_p.K132*	NM_004354.2	NP_004345.1	Q16589	CCNG2_HUMAN	cyclin G2	132					cell cycle checkpoint|cell division|mitosis	cytoplasm				breast(1)|kidney(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	10						TAGTCAGTGTAAATGTACTGC	0.363													92	148					0	0	0.139131	0	0	T	78081991	A	T	78081991	4	4	57	1	0	0	0	0	0	1	0	0	2946	363	13	5	404	5	CCNG2	4	78081991	Nonsense_Mutation	SNP	A	TCGA-DH-5142-01A-01D-1468-08	837447	78081991	113072285	21	2410											
PDHA2	5161	broad.mit.edu	37	4	96761615	96761615	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr4:96761615G>A	ENST00000295266.4	+	1	377	c.314G>A	c.(313-315)gGc>gAc	p.G105D		NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 2	105					glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	NADH(DB00157)	CTTGAGGCCGGCATAAACCCC	0.517													5	228					0	0	0.014758	0	0	A	96761615	G	A	96761615	3	1	57	1	0	0	0	0	1	0	0	0	11712	1203	42	2	316	2	PDHA2	4	96761615	Missense_Mutation	SNP	G	TCGA-DH-5142-01A-01D-1468-08	18679624	96761615	94392661	22	2411											
TET2	54790	broad.mit.edu	37	4	106156834	106156834	+	Missense_Mutation	SNP	C	C	G			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr4:106156834C>G	ENST00000540549.1	+	3	2595	c.1735C>G	c.(1735-1737)Cta>Gta	p.L579V	TET2_ENST00000380013.4_Missense_Mutation_p.L579V|TET2_ENST00000305737.2_Missense_Mutation_p.L579V|TET2_ENST00000394764.1_Missense_Mutation_p.L579V|TET2_ENST00000413648.2_Missense_Mutation_p.L579V|TET2_ENST00000513237.1_Missense_Mutation_p.L600V|TET2_ENST00000545826.1_Missense_Mutation_p.L579V			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	579					cell cycle|myeloid cell differentiation		metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		GGAATCCCATCTAAAACGTAA	0.453			"Mis N, F"		MDS								5	152					0	0	0.014758	0	0	G	106156834	C	G	106156834	3	3	57	1	0	0	0	0	1	0	0	0	15829	912	32	4	1737	4	TET2	4	106156834	Missense_Mutation	SNP	C	TCGA-DH-5142-01A-01D-1468-08	9395219	106156834	84997442	23	2412											
ALPK1	80216	broad.mit.edu	37	4	113362097	113362097	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr4:113362097G>A	ENST00000458497.1	+	15	3842	c.3563G>A	c.(3562-3564)gGa>gAa	p.G1188E	ALPK1_ENST00000504176.2_Missense_Mutation_p.G1110E|ALPK1_ENST00000177648.9_Missense_Mutation_p.G1188E	NM_001102406.1|NM_025144.3	NP_001095876.1|NP_079420.3	Q96QP1	ALPK1_HUMAN	alpha-kinase 1	1188	Alpha-type protein kinase.						ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		AATGGAAAAGGACTCATCTAC	0.363													5	269					0	0	0.014758	0	0	A	113362097	G	A	113362097	3	1	57	1	0	0	0	0	1	0	0	0	540	1174	41	2	3613	2	ALPK1	4	113362097	Missense_Mutation	SNP	G	TCGA-DH-5142-01A-01D-1468-08	7205263	113362097	77792179	24	2413											
ZDHHC11	79844	broad.mit.edu	37	5	850710	850710	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr5:850710G>A	ENST00000283441.8	-	1	391	c.8C>T	c.(7-9)aCc>aTc	p.T3I	ZDHHC11_ENST00000424784.2_Missense_Mutation_p.T3I	NM_024786.2	NP_079062.1	Q9H8X9	ZDH11_HUMAN	zinc finger, DHHC-type containing 11	3						integral to membrane	acyltransferase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(10)|pancreas(1)|prostate(5)|skin(2)|urinary_tract(1)	21			Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863)			CCCGGAGCGGGTGTCCATCTG	0.617													5	142					0	0	0.014758	0	0	A	850710	G	A	850710	3	1	57	1	0	0	0	0	1	0	0	0	17659	1261	44	2	1278	2	ZDHHC11	5	850710	Missense_Mutation	SNP	G	TCGA-DH-5142-01A-01D-1468-08		850710	180064550	25	2414											
MCCC2	64087	broad.mit.edu	37	5	70944989	70944989	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr5:70944989G>A	ENST00000340941.6	+	14	1411	c.1282G>A	c.(1282-1284)Gct>Act	p.A428T	MCCC2_ENST00000323375.8_Missense_Mutation_p.A390T	NM_022132.4	NP_071415.1	Q9HCC0	MCCB_HUMAN	methylcrotonoyl-CoA carboxylase 2 (beta)	428	Carboxyltransferase.				leucine catabolic process	mitochondrial inner membrane|mitochondrial matrix	ATP binding|methylcrotonoyl-CoA carboxylase activity			endometrium(2)|kidney(15)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1)	30		Lung NSC(167;0.000697)|Prostate(74;0.0107)|Ovarian(174;0.0175)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;2.04e-54)	Biotin(DB00121)	GATGGTGGCCGCTGTGGCCTG	0.512													5	152					0	0	0.014758	0	0	A	70944989	G	A	70944989	3	1	57	1	0	0	0	0	1	0	0	0	9425	1087	38	1	1336	1	MCCC2	5	70944989	Missense_Mutation	SNP	G	TCGA-DH-5142-01A-01D-1468-08	70094279	70944989	109970271	26	2415											
RHAG	6005	broad.mit.edu	37	6	49604490	49604490	+	Silent	SNP	C	C	A			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr6:49604490C>A	ENST00000371175.4	-	1	62	c.36G>T	c.(34-36)ctG>ctT	p.L12L	RHAG_ENST00000229810.7_Silent_p.L12L	NM_000324.2	NP_000315.2	Q02094	RHAG_HUMAN	Rh-associated glycoprotein	12					carbon dioxide transport|cellular ion homeostasis	integral to plasma membrane	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding			NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	39	Lung NSC(77;0.0255)					TGGCAATTTCCAGGACTATAG	0.443													61	140					2.5401e-28	3.06114e-28	0.139131	1	0	A	49604490	C	A	49604490	2	1	57	1	0	0	0	0	0	0	0	1	13365	581	21	5		5	RHAG	6	49604490	Silent	SNP	C	TCGA-DH-5142-01A-01D-1468-08		49604490	121510577	27	2416											
REV3L	5980	broad.mit.edu	37	6	111726682	111726682	+	Silent	SNP	T	T	G			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr6:111726682T>G	ENST00000435970.1	-	6	1138	c.322A>C	c.(322-324)Aga>Cga	p.R108R	REV3L_ENST00000368805.1_Silent_p.R186R|REV3L_ENST00000358835.3_Silent_p.R186R|REV3L_ENST00000368802.3_Silent_p.R186R			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	186					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		CTTTTCCTTCTTGCTTTTCGG	0.299								DNA polymerases (catalytic subunits)					7	203					0	0	0.02938	0	0	G	111726682	T	G	111726682	2	3	57	1	0	0	0	0	0	0	0	1	13292	1617	56	5		5	REV3L	6	111726682	Silent	SNP	T	TCGA-DH-5142-01A-01D-1468-08	62122192	111726682	59388385	28	2417											
BCLAF1	9774	broad.mit.edu	37	6	136597607	136597607	+	Missense_Mutation	SNP	C	C	A			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr6:136597607C>A	ENST00000531224.1	-	5	1308	c.1056G>T	c.(1054-1056)agG>agT	p.R352S	BCLAF1_ENST00000527536.1_Missense_Mutation_p.R352S|BCLAF1_ENST00000392348.2_Missense_Mutation_p.R350S|BCLAF1_ENST00000530767.1_Intron|BCLAF1_ENST00000527759.1_Missense_Mutation_p.R350S|BCLAF1_ENST00000353331.4_Missense_Mutation_p.R350S	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	352					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		TGGTATTACCCCTATCAAGCA	0.443													9	523					0.000673444	0.00073609	0.069234	1	0	A	136597607	C	A	136597607	3	1	57	1	0	0	0	0	1	0	0	0	1381	622	22	5	1742	5	BCLAF1	6	136597607	Missense_Mutation	SNP	C	TCGA-DH-5142-01A-01D-1468-08	24870925	136597607	34517460	29	2418											
DNAH11	8701	broad.mit.edu	37	7	21678576	21678576	+	Missense_Mutation	SNP	G	G	T			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr7:21678576G>T	ENST00000328843.6	+	28	4883	c.4852G>T	c.(4852-4854)Gct>Tct	p.A1618S	DNAH11_ENST00000409508.3_Missense_Mutation_p.A1613S			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1618	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TTGTGAAAAAGCTCTCGCTGA	0.403									Kartagener syndrome				67	157					9.12251e-31	1.11366e-30	0.139131	1	0	T	21678576	G	T	21678576	3	4	57	1	0	0	0	0	1	0	0	0	4627	971	34	4	4962	4	DNAH11	7	21678576	Missense_Mutation	SNP	G	TCGA-DH-5142-01A-01D-1468-08		21678576	137460087	30	2419											
ZNF713	349075	broad.mit.edu	37	7	56006946	56006946	+	Silent	SNP	A	A	C			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr7:56006946A>C	ENST00000429591.2	+	4	578	c.540A>C	c.(538-540)tcA>tcC	p.S180S	MRPS17_ENST00000426595.1_Intron	NM_182633.1	NP_872439.1	Q8N859	ZN713_HUMAN	zinc finger protein 713	180					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			ATCTGAACTCAAACCTTATGC	0.368													32	136					0	0	0.173368	0	0	C	56006946	A	C	56006946	2	2	57	1	0	0	0	0	0	0	0	1	18173	117	5	5		5	ZNF713	7	56006946	Silent	SNP	A	TCGA-DH-5142-01A-01D-1468-08	34328370	56006946	103131717	31	2420											
CACNA2D1	781	broad.mit.edu	37	7	81624211	81624211	+	Silent	SNP	G	G	A			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr7:81624211G>A	ENST00000356860.3	-	20	2045	c.1707C>T	c.(1705-1707)ttC>ttT	p.F569F	CACNA2D1_ENST00000356253.5_Silent_p.F588F	NM_000722.2	NP_000713.2	P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	588						voltage-gated calcium channel complex	metal ion binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)	CCAGAGTTCTGAATGTTTTTT	0.299													6	112					0	0	0.021553	0	0	A	81624211	G	A	81624211	2	1	57	1	0	0	0	0	0	0	0	1	2566	1281	45	2		2	CACNA2D1	7	81624211	Silent	SNP	G	TCGA-DH-5142-01A-01D-1468-08	25617265	81624211	77514452	32	2421											
COL1A2	1278	broad.mit.edu	37	7	94033881	94033881	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr7:94033881C>T	ENST00000297268.6	+	7	764	c.293C>T	c.(292-294)cCt>cTt	p.P98L		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	98					axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	TTAATGGGACCTAGAGGCCCA	0.443										HNSCC(75;0.22)			4	163					0	0	0.150653	0	0	T	94033881	C	T	94033881	3	4	57	1	0	0	0	0	1	0	0	0	3701	681	24	2	319	2	COL1A2	7	94033881	Missense_Mutation	SNP	C	TCGA-DH-5142-01A-01D-1468-08	12409670	94033881	65104782	33	2422											
PEG10	23089	broad.mit.edu	37	7	94293346	94293346	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr7:94293346G>A	ENST00000482108.1	+	2	957	c.478G>A	c.(478-480)Gac>Aac	p.D160N	PEG10_ENST00000488574.1_Missense_Mutation_p.D160N	NM_001040152.1|NM_001172438.1|NM_001184962.1	NP_001035242.1|NP_001165909.1|NP_001171891.1	Q86TG7	PEG10_HUMAN	paternally expressed 10	160	Necessary for interaction with ALK1.				apoptosis|cell differentiation|negative regulation of transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(9)|prostate(3)|skin(1)	21	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			TGTCTTTGAAGACCCTCAGAG	0.557													12	353					0	0	0.105934	0	0	A	94293346	G	A	94293346	3	1	57	1	0	0	0	0	1	0	0	0	11766	942	33	2	712	2	PEG10	7	94293346	Missense_Mutation	SNP	G	TCGA-DH-5142-01A-01D-1468-08	259465	94293346	64845317	34	2423											
TRIM56	81844	broad.mit.edu	37	7	100732260	100732260	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr7:100732260C>T	ENST00000306085.6	+	3	1964	c.1667C>T	c.(1666-1668)gCc>gTc	p.A556V		NM_030961.1	NP_112223.1	Q9BRZ2	TRI56_HUMAN	tripartite motif containing 56	556					defense response to virus|interferon-beta production|protein K63-linked ubiquitination|response to type I interferon	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	Lung NSC(181;0.136)|all_lung(186;0.182)					TGCAGCGTGGCCGCCCTGCAG	0.672													5	185					0	0	0.014758	0	0	T	100732260	C	T	100732260	3	4	57	1	0	0	0	0	1	0	0	0	16591	739	26	2	1669	2	TRIM56	7	100732260	Missense_Mutation	SNP	C	TCGA-DH-5142-01A-01D-1468-08	6438914	100732260	58406403	35	2424											
TRPM6	140803	broad.mit.edu	37	9	77435280	77435280	+	Silent	SNP	A	A	G			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr9:77435280A>G	ENST00000451710.3	-	9	1311	c.1074T>C	c.(1072-1074)agT>agC	p.S358S	TRPM6_ENST00000376864.4_Silent_p.S358S|TRPM6_ENST00000360774.1_Silent_p.S358S|TRPM6_ENST00000376872.3_Silent_p.S358S|TRPM6_ENST00000361255.3_Silent_p.S353S|TRPM6_ENST00000483186.1_5'UTR|TRPM6_ENST00000449912.2_Silent_p.S353S|TRPM6_ENST00000376871.3_Silent_p.S358S			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	358					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						ACTGTTTAAGACTAAAGTTGA	0.413													35	108					0	0	0.104719	0	0	G	77435280	A	G	77435280	2	3	57	1	0	0	0	0	0	0	0	1	16651	272	10	3		3	TRPM6	9	77435280	Silent	SNP	A	TCGA-DH-5142-01A-01D-1468-08		77435280	63778151	36	2425											
RMI1	80010	broad.mit.edu	37	9	86616940	86616940	+	Missense_Mutation	SNP	C	C	G			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr9:86616940C>G	ENST00000325875.3	+	3	1371	c.1039C>G	c.(1039-1041)Cga>Gga	p.R347G		NM_024945.2	NP_079221.2	Q9H9A7	RMI1_HUMAN	RecQ mediated genome instability 1	347					DNA replication	nucleus				biliary_tract(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18						AAATGCCGATCGAAGTATAGA	0.343													16	100					0	0	0.132662	0	0	G	86616940	C	G	86616940	3	3	57	1	0	0	0	0	1	0	0	0	13447	876	31	5	1041	5	RMI1	9	86616940	Missense_Mutation	SNP	C	TCGA-DH-5142-01A-01D-1468-08	9181660	86616940	54596491	37	2426											
OR13C2	392376	broad.mit.edu	37	9	107367614	107367614	+	Missense_Mutation	SNP	C	C	A			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr9:107367614C>A	ENST00000542196.1	-	1	337	c.295G>T	c.(295-297)Gtg>Ttg	p.V99L		NM_001004481.1	NP_001004481.1	Q8NGS9	O13C2_HUMAN	olfactory receptor, family 13, subfamily C, member 2	99					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						AACATCTGCACTGCACAGCCA	0.522													21	232					2.79863e-10	3.28839e-10	0.099896	1	0	A	107367614	C	A	107367614	3	1	57	1	0	0	0	0	1	0	0	0	10982	565	20	4	664	4	OR13C2	9	107367614	Missense_Mutation	SNP	C	TCGA-DH-5142-01A-01D-1468-08	20750674	107367614	33845817	38	2427											
ZNF618	114991	broad.mit.edu	37	9	116811471	116811471	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr9:116811471G>A	ENST00000288466.7	+	14	1709	c.1610G>A	c.(1609-1611)gGc>gAc	p.G537D	ZNF618_ENST00000374126.5_Missense_Mutation_p.G630D|ZNF618_ENST00000470105.1_3'UTR	NM_133374.2	NP_588615.2	Q5T7W0	ZN618_HUMAN	zinc finger protein 618	630					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|lung(10)|urinary_tract(1)	16						TCCAAGGCCGGCATGTGCCTT	0.622													4	223					0	0	0.014758	0	0	A	116811471	G	A	116811471	3	1	57	1	0	0	0	0	1	0	0	0	18099	1203	42	2	1664	2	ZNF618	9	116811471	Missense_Mutation	SNP	G	TCGA-DH-5142-01A-01D-1468-08	9443857	116811471	24401960	39	2428											
COL27A1	85301	broad.mit.edu	37	9	116931516	116931516	+	Missense_Mutation	SNP	A	A	G			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr9:116931516A>G	ENST00000356083.3	+	3	2072	c.1681A>G	c.(1681-1683)Aag>Gag	p.K561E		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	561	Pro-rich.				cell adhesion		extracellular matrix structural constituent			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						CAGACCTGGGAAGGCAGCCAG	0.642													9	242					0	0	0.047766	0	0	G	116931516	A	G	116931516	3	3	57	1	0	0	0	0	1	0	0	0	3708	247	9	3	1691	3	COL27A1	9	116931516	Missense_Mutation	SNP	A	TCGA-DH-5142-01A-01D-1468-08	120045	116931516	24281915	40	2429											
SPTAN1	6709	broad.mit.edu	37	9	131337005	131337005	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr9:131337005C>T	ENST00000358161.5	+	4	528	c.415C>T	c.(415-417)Cga>Tga	p.R139*	SPTAN1_ENST00000372731.4_Nonsense_Mutation_p.R139*|SPTAN1_ENST00000372739.3_Nonsense_Mutation_p.R139*			Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	139					actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						GGAGAAGATGCGAGAAAAAGG	0.468													47	80					0	0	0.139131	0	0	T	131337005	C	T	131337005	4	4	57	1	0	0	0	0	0	1	0	0	15173	760	27	1	425	1	SPTAN1	9	131337005	Nonsense_Mutation	SNP	C	TCGA-DH-5142-01A-01D-1468-08	14405489	131337005	9876426	41	2430											
CACNA1B	774	broad.mit.edu	37	9	140850187	140850187	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr9:140850187C>T	ENST00000371372.1	+	8	1253	c.1108C>T	c.(1108-1110)Cgc>Tgc	p.R370C	CACNA1B_ENST00000277551.2_Missense_Mutation_p.R370C|CACNA1B_ENST00000371357.1_Missense_Mutation_p.R370C|CACNA1B_ENST00000371363.1_Missense_Mutation_p.R370C|CACNA1B_ENST00000371355.4_Missense_Mutation_p.R370C|CACNA1B_ENST00000277549.5_5'UTR	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	370					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	GGAGAACCGCCGCGCCTTCCT	0.642													10	17					0	0	0.069234	0	0	T	140850187	C	T	140850187	3	4	57	1	0	0	0	0	1	0	0	0	2557	652	23	1	1138	1	CACNA1B	9	140850187	Missense_Mutation	SNP	C	TCGA-DH-5142-01A-01D-1468-08	9513182	140850187	363244	42	2431											
CUBN	8029	broad.mit.edu	37	10	16883005	16883005	+	Silent	SNP	C	C	T			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr10:16883005C>T	ENST00000377833.4	-	61	9770	c.9705G>A	c.(9703-9705)acG>acA	p.T3235T		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	3235	CUB 24.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	AACCACAAAACGTTCCAGCCA	0.363													16	99					0	0	0.146539	0	0	T	16883005	C	T	16883005	2	4	57	1	0	0	0	0	0	0	0	1	4074	523	19	1		1	CUBN	10	16883005	Silent	SNP	C	TCGA-DH-5142-01A-01D-1468-08		16883005	118651742	43	2432											
MYO3A	53904	broad.mit.edu	37	10	26243813	26243813	+	Missense_Mutation	SNP	A	A	G			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr10:26243813A>G	ENST00000265944.5	+	4	345	c.179A>G	c.(178-180)gAa>gGa	p.E60G	MYO3A_ENST00000543632.1_Missense_Mutation_p.E60G|MYO3A_ENST00000376301.1_Missense_Mutation_p.E60G|MYO3A_ENST00000376302.1_Missense_Mutation_p.E60G	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	60	Protein kinase.				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						GATATTGACGAAGAGATTGAA	0.318													18	260					0	0	0.049695	0	0	G	26243813	A	G	26243813	3	3	57	1	0	0	0	0	1	0	0	0	10124	246	9	3	185	3	MYO3A	10	26243813	Missense_Mutation	SNP	A	TCGA-DH-5142-01A-01D-1468-08	9360808	26243813	109290934	44	2433											
PLCE1	51196	broad.mit.edu	37	10	95790842	95790842	+	Silent	SNP	T	T	C			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr10:95790842T>C	ENST00000371380.3	+	1	274	c.39T>C	c.(37-39)ccT>ccC	p.P13P	PLCE1_ENST00000260766.3_Silent_p.P13P			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1						activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				TTCTCATACCTGTGACTCAGA	0.418													4	197					0	0	0.014758	0	0	C	95790842	T	C	95790842	2	2	57	1	0	0	0	0	0	0	0	1	12082	1567	55	3		3	PLCE1	10	95790842	Silent	SNP	T	TCGA-DH-5142-01A-01D-1468-08	69547029	95790842	39743905	45	2434											
PSD	5662	broad.mit.edu	37	10	104173754	104173754	+	Missense_Mutation	SNP	A	A	C			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr10:104173754A>C	ENST00000020673.5	-	5	1851	c.1325T>G	c.(1324-1326)tTt>tGt	p.F442C	PSD_ENST00000406432.1_Missense_Mutation_p.F442C	NM_001270966.1|NM_002779.4	NP_001257895.1|NP_002770.3	A5PKW4	PSD1_HUMAN	pleckstrin and Sec7 domain containing	442	Pro-rich.				regulation of ARF protein signal transduction	cytoplasm|plasma membrane|ruffle	ARF guanyl-nucleotide exchange factor activity|signal transducer activity			breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		AGGCAGCTCAAAGGTGAAGAA	0.652													10	109					0	0	0.069234	0	0	C	104173754	A	C	104173754	3	2	57	1	0	0	0	0	1	0	0	0	12695	14	1	5	1801	5	PSD	10	104173754	Missense_Mutation	SNP	A	TCGA-DH-5142-01A-01D-1468-08	8382912	104173754	31360993	46	2435											
SBF2	81846	broad.mit.edu	37	11	9864268	9864268	+	Missense_Mutation	SNP	T	T	C			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr11:9864268T>C	ENST00000256190.8	-	25	3297	c.3160A>G	c.(3160-3162)Aca>Gca	p.T1054A	RP11-1H15.2_ENST00000533659.1_RNA	NM_030962.3	NP_112224.1	Q86WG5	MTMRD_HUMAN	SET binding factor 2	1054					myelination	cytoplasm|membrane	phosphatase activity|protein binding			breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		CGCCCAATTGTCATTTTCCCT	0.373													4	111					0	0	0.014758	0	0	C	9864268	T	C	9864268	3	2	57	1	0	0	0	0	1	0	0	0	13912	1667	58	3	2453	3	SBF2	11	9864268	Missense_Mutation	SNP	T	TCGA-DH-5142-01A-01D-1468-08		9864268	125142248	47	2436											
GAS2	2620	broad.mit.edu	37	11	22747932	22747932	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr11:22747932G>A	ENST00000454584.2	+	4	667	c.362G>A	c.(361-363)cGa>cAa	p.R121Q	GAS2_ENST00000278187.3_Missense_Mutation_p.R121Q|GAS2_ENST00000433790.1_Missense_Mutation_p.R121Q	NM_001143830.1	NP_001137302.1	O43903	GAS2_HUMAN	growth arrest-specific 2	121	CH.				cell cycle arrest|cellular component disassembly involved in apoptosis|regulation of cell shape	actin filament|cytosol|membrane				breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(4)|stomach(1)	24						TCCTGGTGCCGAGATTTAGGG	0.398													15	138					0	0	0.11911	0	0	A	22747932	G	A	22747932	3	1	57	1	0	0	0	0	1	0	0	0	6285	1058	37	1	372	1	GAS2	11	22747932	Missense_Mutation	SNP	G	TCGA-DH-5142-01A-01D-1468-08	12883664	22747932	112258584	48	2437											
OR1S1	219959	broad.mit.edu	37	11	57982589	57982589	+	Missense_Mutation	SNP	A	A	T			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr11:57982589A>T	ENST00000309433.6	+	1	373	c.373A>T	c.(373-375)Aat>Tat	p.N125Y		NM_001004458.1	NP_001004458.1	Q8NH92	OR1S1_HUMAN	olfactory receptor, family 1, subfamily S, member 1	125					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(24)|kidney(1)|large_intestine(1)|liver(1)|lung(10)|prostate(1)|skin(2)|stomach(3)|urinary_tract(3)	48		Breast(21;0.0589)				CGTCATTGACAATTTGCTCTT	0.453													171	246					0	0	0.139131	0	0	T	57982589	A	T	57982589	3	4	57	1	0	0	0	0	1	0	0	0	11020	130	5	5	375	5	OR1S1	11	57982589	Missense_Mutation	SNP	A	TCGA-DH-5142-01A-01D-1468-08	35234657	57982589	77023927	49	2438											
OAF	220323	broad.mit.edu	37	11	120097624	120097624	+	Missense_Mutation	SNP	C	C	G			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr11:120097624C>G	ENST00000328965.4	+	3	979	c.466C>G	c.(466-468)Ccc>Gcc	p.P156A	OAF_ENST00000531220.1_Missense_Mutation_p.P40A	NM_178507.2	NP_848602.1	Q86UD1	OAF_HUMAN	OAF homolog (Drosophila)	156										kidney(1)|lung(5)	6		Breast(109;0.00663)|Medulloblastoma(222;0.0523)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)		CCTGCTGAGCCCCCATCTCCA	0.642													54	75					0	0	0.139131	0	0	G	120097624	C	G	120097624	3	3	57	1	0	0	0	0	1	0	0	0	10846	623	22	5	476	5	OAF	11	120097624	Missense_Mutation	SNP	C	TCGA-DH-5142-01A-01D-1468-08	62115035	120097624	14908892	50	2439											
CDKN1B	1027	broad.mit.edu	37	12	12871757	12871757	+	Splice_Site	SNP	A	A	C			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr12:12871757A>C	ENST00000228872.4	+	2	1191		c.e2-1		CDKN1B_ENST00000477087.1_Splice_Site|CDKN1B_ENST00000396340.1_Intron	NM_004064.3	NP_004055.1	P46527	CDN1B_HUMAN	cyclin-dependent kinase inhibitor 1B (p27, Kip1)						autophagic cell death|cell cycle arrest|cellular response to lithium ion|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of transcription, DNA-dependent|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of protein catabolic process|S phase of mitotic cell cycle	cytosol|endosome|nucleoplasm	cyclin-dependent protein kinase inhibitor activity|protein phosphatase binding|transforming growth factor beta receptor, cytoplasmic mediator activity			breast(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(5)	13		Prostate(47;0.0322)|all_epithelial(100;0.159)		BRCA - Breast invasive adenocarcinoma(232;0.0336)		CCCTGCGCTTAGATTCTTCTA	0.433													6	295					0	0	0.02938	0	0	C	12871757	A	C	12871757	5	2	57	1	0	0	0	0	0	0	1	0	3181	434	15	5	480	5	CDKN1B	12	12871757	Splice_Site	SNP	A	TCGA-DH-5142-01A-01D-1468-08		12871757	120980138	51	2440											
ADAMTS20	80070	broad.mit.edu	37	12	43925953	43925953	+	Missense_Mutation	SNP	T	T	C			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr12:43925953T>C	ENST00000389420.3	-	3	498	c.499A>G	c.(499-501)Ata>Gta	p.I167V	ADAMTS20_ENST00000553158.1_Missense_Mutation_p.I167V	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	167						proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		GCCTTCATTATAGGTTCTAAG	0.343													12	147					0	0	0.09319	0	0	C	43925953	T	C	43925953	3	2	57	1	0	0	0	0	1	0	0	0	265	1406	49	3	5380	3	ADAMTS20	12	43925953	Missense_Mutation	SNP	T	TCGA-DH-5142-01A-01D-1468-08	31054196	43925953	89925942	52	2441											
PTPRR	5801	broad.mit.edu	37	12	71286466	71286466	+	Missense_Mutation	SNP	A	A	G			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr12:71286466A>G	ENST00000283228.2	-	2	802	c.350T>C	c.(349-351)aTt>aCt	p.I117T		NM_002849.3	NP_002840.2	Q15256	PTPRR_HUMAN	protein tyrosine phosphatase, receptor type, R	117					in utero embryonic development	cell surface|Golgi apparatus|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)		TACCACCACAATTACATTTGC	0.413													4	246					0	0	0.150653	0	0	G	71286466	A	G	71286466	3	3	57	1	0	0	0	0	1	0	0	0	12862	101	4	3	1675	3	PTPRR	12	71286466	Missense_Mutation	SNP	A	TCGA-DH-5142-01A-01D-1468-08	27360513	71286466	62565429	53	2442											
C12orf65	91574	broad.mit.edu	37	12	123741402	123741402	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr12:123741402C>T	ENST00000253233.1	+	3	969	c.325C>T	c.(325-327)Cgg>Tgg	p.R109W	RP11-282O18.3_ENST00000543217.2_RNA|C12orf65_ENST00000429587.2_Missense_Mutation_p.R109W|RP11-282O18.3_ENST00000541002.3_RNA|C12orf65_ENST00000366329.2_Missense_Mutation_p.R109W	NM_152269.4	NP_689482.1	Q9H3J6	CL065_HUMAN	chromosome 12 open reading frame 65	109						mitochondrion	translation release factor activity			endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	4	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000595)|Epithelial(86;0.00199)		AAAGCTAGCTCGGAAAATCCT	0.368													6	100					0	0	0.021553	0	0	T	123741402	C	T	123741402	3	4	57	1	0	0	0	0	1	0	0	0	1714	875	31	1	331	1	C12orf65	12	123741402	Missense_Mutation	SNP	C	TCGA-DH-5142-01A-01D-1468-08	52454936	123741402	10110493	54	2443											
SLC8A3	6547	broad.mit.edu	37	14	70633381	70633382	+	Frame_Shift_Ins	INS	-	-	C			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr14:70633381_70633382insC	ENST00000381269.2	-	2	2511_2512	c.1758_1759insG	c.(1756-1761)gagttgfs	p.L587fs	SLC8A3_ENST00000357887.3_Frame_Shift_Ins_p.L587fs|SLC8A3_ENST00000528359.1_Frame_Shift_Ins_p.L587fs|SLC8A3_ENST00000534137.1_Frame_Shift_Ins_p.L587fs|SLC8A3_ENST00000356921.2_Frame_Shift_Ins_p.L587fs	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	587	Calx-beta 2.				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		TTGAATTCCAACTCCCCATATG	0.505													14	120	---	---	---	---						C	70633382	-	C	70633381	7	5	57	1	0	1	1	0	0	0	0	0	14763	40	2	0	1163	0	SLC8A3	14	70633381	Frame_Shift_Ins	INS	-	TCGA-DH-5142-01A-01D-1468-08		70633381	36716159	55	2444											
TP53	7157	broad.mit.edu	37	17	7578271	7578271	+	Missense_Mutation	SNP	T	T	C			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr17:7578271T>C	ENST00000420246.2	-	6	710	c.578A>G	c.(577-579)cAt>cGt	p.H193R	TP53_ENST00000455263.2_Missense_Mutation_p.H193R|TP53_ENST00000574684.1_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.H193R|TP53_ENST00000445888.2_Missense_Mutation_p.H193R|TP53_ENST00000269305.4_Missense_Mutation_p.H193R|TP53_ENST00000413465.2_Missense_Mutation_p.H193R	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	193	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in LFS; germline mutation and in sporadic cancers; somatic mutation).|H -> Y (in sporadic cancers; somatic mutation).|QH -> HN (in a sporadic cancer; somatic mutation).|QH -> HY (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.H193R(80)|p.H193L(42)|p.H193P(18)|p.0?(8)|p.?(6)|p.H61R(4)|p.H100R(4)|p.H100L(4)|p.H61L(4)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.H193fs*16(3)|p.P191fs*53(2)|p.H61P(2)|p.H100P(2)|p.A189fs*53(1)|p.P191fs*6(1)|p.H193_I195delHLI(1)|p.P59_E66>Q(1)|p.P191fs*15(1)|p.P98_E105>Q(1)|p.H193_I195>AP(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)		TCGGATAAGATGCTGAGGAGG	0.562		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)			74	12					0	0	0.139131	0	0	C	7578271	T	C	7578271	3	2	57	1	0	0	0	0	1	0	0	0	16442	1464	51	3	716	3	TP53	17	7578271	Missense_Mutation	SNP	T	TCGA-DH-5142-01A-01D-1468-08		7578271	73616939	56	2445											
MYH8	4626	broad.mit.edu	37	17	10309482	10309482	+	Missense_Mutation	SNP	C	C	G			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr17:10309482C>G	ENST00000403437.2	-	21	2402	c.2308G>C	c.(2308-2310)Gct>Cct	p.A770P	RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	770	Actin-binding.|Myosin head-like.				muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						AGAAGTCCAGCTTTGAAGAAA	0.403									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				48	77					0	0	0.139131	0	0	G	10309482	C	G	10309482	3	3	57	1	0	0	0	0	1	0	0	0	10089	797	28	4	3585	4	MYH8	17	10309482	Missense_Mutation	SNP	C	TCGA-DH-5142-01A-01D-1468-08	2731211	10309482	70885728	57	2446											
UNC45B	146862	broad.mit.edu	37	17	33482401	33482401	+	Silent	SNP	C	C	T			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr17:33482401C>T	ENST00000268876.5	+	7	823	c.726C>T	c.(724-726)tgC>tgT	p.C242C	UNC45B_ENST00000591048.1_Silent_p.C242C|UNC45B_ENST00000378449.1_Silent_p.C242C|UNC45B_ENST00000433649.1_Silent_p.C242C|UNC45B_ENST00000394570.2_Silent_p.C242C	NM_173167.2	NP_775259.1	Q8IWX7	UN45B_HUMAN	unc-45 homolog B (C. elegans)	242					cell differentiation|muscle organ development	cytosol	binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				TGGCTGTCTGCAACCTGCTCC	0.552													23	200					0	0	0.076483	0	0	T	33482401	C	T	33482401	2	4	57	1	0	0	0	0	0	0	0	1	17049	718	25	2		2	UNC45B	17	33482401	Silent	SNP	C	TCGA-DH-5142-01A-01D-1468-08	23172919	33482401	47712809	58	2447											
GAS2L2	246176	broad.mit.edu	37	17	34072135	34072135	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr17:34072135C>T	ENST00000254466.6	-	6	2408	c.2381G>A	c.(2380-2382)cGa>cAa	p.R794Q	GAS2L2_ENST00000587565.1_Missense_Mutation_p.R778Q	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	794					cell cycle arrest	cytoplasm|cytoskeleton				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CCTGGGGATTCGTGAAGGCTG	0.632													16	261					0	0	0.175082	0	0	T	34072135	C	T	34072135	3	4	57	1	0	0	0	0	1	0	0	0	6287	884	31	1	265	1	GAS2L2	17	34072135	Missense_Mutation	SNP	C	TCGA-DH-5142-01A-01D-1468-08	589734	34072135	47123075	59	2448											
CPAMD8	27151	broad.mit.edu	37	19	17039029	17039029	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr19:17039029C>A	ENST00000443236.1	-	25	3332	c.3301G>T	c.(3301-3303)Gag>Tag	p.E1101*		NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	1054						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						TTGGATGGCTCTGGACCATGG	0.582													4	153					0.150653	0.159117	0.150653	1	0	A	17039029	C	A	17039029	4	1	57	1	0	0	0	0	0	1	0	0	3818	922	32	4	2569	4	CPAMD8	19	17039029	Nonsense_Mutation	SNP	C	TCGA-DH-5142-01A-01D-1468-08		17039029	42089954	60	2449											
ZNF99	7652	broad.mit.edu	37	19	22941101	22941101	+	Missense_Mutation	SNP	T	T	C			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr19:22941101T>C	ENST00000397104.3	-	5	1336	c.1337A>G	c.(1336-1338)tAc>tGc	p.Y446C	ZNF99_ENST00000596209.1_Missense_Mutation_p.Y537C					zinc finger protein 99											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TTCACATTTGTAGGGTTTCTT	0.343													5	275					0	0	0.02938	0	0	C	22941101	T	C	22941101	3	2	57	1	0	0	0	0	1	0	0	0	18246	1638	57	3	1787	3	ZNF99	19	22941101	Missense_Mutation	SNP	T	TCGA-DH-5142-01A-01D-1468-08	5902072	22941101	36187882	61	2450											
KCNC3	3748	broad.mit.edu	37	19	50826645	50826645	+	Missense_Mutation	SNP	A	A	G			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr19:50826645A>G	ENST00000376959.2	-	2	1728	c.1565T>C	c.(1564-1566)cTg>cCg	p.L522P	KCNC3_ENST00000391818.2_Intron|KCNC3_ENST00000474951.1_Intron|KCNC3_ENST00000477616.1_Missense_Mutation_p.L522P			Q14003	KCNC3_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 3	522					cell death	voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(2)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)	13		all_neural(266;0.057)|Ovarian(192;0.208)		OV - Ovarian serous cystadenocarcinoma(262;0.00283)|GBM - Glioblastoma multiforme(134;0.0181)		CAGGGCACACAGCGCCCCGAC	0.602													3	74					0	0	0.115264	0	0	G	50826645	A	G	50826645	3	3	57	1	0	0	0	0	1	0	0	0	8060	188	7	3	720	3	KCNC3	19	50826645	Missense_Mutation	SNP	A	TCGA-DH-5142-01A-01D-1468-08	27885544	50826645	8302338	62	2451											
ZNF83	55769	broad.mit.edu	37	19	53122219	53122219	+	Silent	SNP	A	A	G	rs10402820	by1000genomes	TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr19:53122219A>G	ENST00000594682.2	-	5	439	c.112T>C	c.(112-114)Ttg>Ctg	p.L38L	ZNF83_ENST00000301096.3_Intron|ZNF83_ENST00000597161.1_Silent_p.L38L|ZNF83_ENST00000597597.1_Intron|ZNF83_ENST00000536937.1_5'UTR|ZNF83_ENST00000598536.1_Intron|ZNF83_ENST00000600714.1_Silent_p.L38L|ZNF83_ENST00000601257.1_Silent_p.L38L|ZNF83_ENST00000545872.1_Intron|ZNF83_ENST00000544146.1_5'UTR|ZNF83_ENST00000596930.1_Silent_p.L38L	NM_001105552.1|NM_001277945.1|NM_001277946.1|NM_001277948.1	NP_001099022.1|NP_001264874.1|NP_001264875.1|NP_001264877.1	P51522	ZNF83_HUMAN	zinc finger protein 83							nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18				OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244)		TAATTCTCCAACATCACATCT	0.468													3	139					0	0	0.115264	0	0	G	53122219	A	G	53122219	2	3	57	1	0	0	0	0	0	0	0	1	18230	58	2	3		3	ZNF83	19	53122219	Silent	SNP	A	TCGA-DH-5142-01A-01D-1468-08	2295574	53122219	6006764	63	2452											
SIRPD	128646	broad.mit.edu	37	20	1517834	1517834	+	Missense_Mutation	SNP	G	G	T			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr20:1517834G>T	ENST00000381623.3	-	3	1733	c.544C>A	c.(544-546)Ccc>Acc	p.P182T	SIRPD_ENST00000381621.1_Missense_Mutation_p.P183T			Q9H106	SIRPD_HUMAN	signal-regulatory protein delta	182						extracellular region				breast(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)	15						CAGCAGCAGGGTTGGACGAAA	0.607													43	139					3.77016e-25	4.48601e-25	0.131918	1	0	T	1517834	G	T	1517834	3	4	57	1	0	0	0	0	1	0	0	0	14390	1261	44	5	57	5	SIRPD	20	1517834	Missense_Mutation	SNP	G	TCGA-DH-5142-01A-01D-1468-08		1517834	61507686	64	2453											
DNMT3B	1789	broad.mit.edu	37	20	31372610	31372610	+	Missense_Mutation	SNP	C	C	G	rs138276579		TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr20:31372610C>G	ENST00000328111.2	+	4	572	c.251C>G	c.(250-252)aCc>aGc	p.T84S	DNMT3B_ENST00000456297.2_Intron|DNMT3B_ENST00000443239.3_Missense_Mutation_p.T84S|DNMT3B_ENST00000353855.2_Missense_Mutation_p.T84S|DNMT3B_ENST00000344505.4_Missense_Mutation_p.T84S|DNMT3B_ENST00000375623.4_Missense_Mutation_p.T84S|DNMT3B_ENST00000348286.2_Missense_Mutation_p.T84S|DNMT3B_ENST00000201963.3_Missense_Mutation_p.T96S	NM_006892.3	NP_008823.1	Q9UBC3	DNM3B_HUMAN	DNA (cytosine-5-)-methyltransferase 3 beta	84	Interaction with DNMT1 and DNMT3A.				negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation		metal ion binding|protein binding|transcription corepressor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GGCTCTGACACCCCAGTCATG	0.527													3	143					0	0	0.115264	0	0	G	31372610	C	G	31372610	3	3	57	1	0	0	0	0	1	0	0	0	4704	507	18	5	301	5	DNMT3B	20	31372610	Missense_Mutation	SNP	C	TCGA-DH-5142-01A-01D-1468-08	29854776	31372610	31652910	65	2454											
RTDR1	27156	broad.mit.edu	37	22	23401832	23401832	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr22:23401832C>T	ENST00000216036.4	-	7	1051	c.855G>A	c.(853-855)atG>atA	p.M285I		NM_014433.2	NP_055248.1	Q9UHP6	RTDR1_HUMAN	rhabdoid tumor deletion region gene 1	285							binding			breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	18	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.175)		GCGCTATGGTCATGGGGGAGT	0.657													59	190					0	0	0.139131	0	0	T	23401832	C	T	23401832	3	4	57	1	0	0	0	0	1	0	0	0	13771	826	29	2	195	2	RTDR1	22	23401832	Missense_Mutation	SNP	C	TCGA-DH-5142-01A-01D-1468-08		23401832	27902734	66	2455											
ATRX	546	broad.mit.edu	37	X	76890086	76890086	+	Splice_Site	SNP	T	T	C			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chrX:76890086T>C	ENST00000373344.5	-	17	5022	c.4808A>G	c.(4807-4809)cAg>cGg	p.Q1603R	ATRX_ENST00000395603.3_Splice_Site_p.Q1565R|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1603	Helicase ATP-binding.				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)	AGCTCTTACCTGTAAAGTCTT	0.393			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						82	23					0	0	0.139131	0	0	C	76890086	T	C	76890086	5	2	57	1	0	0	0	0	0	0	1	0	1206	1594	55	3	2746	3	ATRX	23	76890086	Splice_Site	SNP	T	TCGA-DH-5142-01A-01D-1468-08		76890086	78380474	67	2456											
VSIG1	340547	broad.mit.edu	37	X	107310285	107310285	+	Silent	SNP	T	T	C			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chrX:107310285T>C	ENST00000415430.3	+	4	602	c.441T>C	c.(439-441)agT>agC	p.S147S	VSIG1_ENST00000217957.5_Silent_p.S111S|VSIG1_ENST00000485533.1_3'UTR	NM_001170553.1	NP_001164024.1	Q86XK7	VSIG1_HUMAN	V-set and immunoglobulin domain containing 1	111	Ig-like C2-type 2.		V -> I (in dbSNP:rs17254305).			integral to membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	17						CAGCAGACAGTGGAATTTACA	0.463													4	166					0	0	0.150653	0	0	C	107310285	T	C	107310285	2	2	57	1	0	0	0	0	0	0	0	1	17282	1693	59	3		3	VSIG1	23	107310285	Silent	SNP	T	TCGA-DH-5142-01A-01D-1468-08	30420199	107310285	47960275	68	2457											
CROCC	9696	broad.mit.edu	37	1	17185383	17185384	+	RNA	INS	-	-	C	rs33920141	by1000genomes	TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr1:17185383_17185384insC	ENST00000414128.1	+	0	646																											ACTAAATTTTTAGTGCAATAAT	0.465													3	5	---	---	---	---						C	17185384	-	C	17185383	6	5	58	0	1	1	1	0	0	0	0	0	3916	1769	61	0		0	CROCC	1	17185383	RNA	INS	-	TCGA-DH-5143-01A-01D-1468-08		17185383	232065238	1	2458											
CCDC28B	79140	broad.mit.edu	37	1	32670247	32670248	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr1:32670247_32670248delTG	ENST00000421922.2	+	5	674_675	c.574_575delTG	c.(574-576)tgtfs	p.C192fs	CCDC28B_ENST00000373602.5_Intron|CCDC28B_ENST00000483009.1_Intron			Q9BUN5	CC28B_HUMAN	coiled-coil domain containing 28B	0										large_intestine(4)|lung(3)|ovary(1)|upper_aerodigestive_tract(2)	10		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				AACCCGTCTATGTGTGTGTGTT	0.5													9	533	---	---	---	---						-	32670248	TG	-	32670247	7	5	58	1	0	1	0	1	0	0	0	0	2822	1479	51	0		0	CCDC28B	1	32670247	Frame_Shift_Del	DEL	TG	TCGA-DH-5143-01A-01D-1468-08	15484864	32670247	216580374	2	2459											
SPAG17	200162	broad.mit.edu	37	1	118523986	118523986	+	Missense_Mutation	SNP	T	T	C			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr1:118523986T>C	ENST00000336338.5	-	43	5976	c.5911A>G	c.(5911-5913)Agt>Ggt	p.S1971G	SPAG17_ENST00000492438.1_5'UTR	NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1971						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		CTAGGCACACTTGAGGATTTC	0.343													30	179					0	0	1	0	0	C	118523986	T	C	118523986	3	2	58	1	0	0	0	0	1	0	0	0	15035	1609	56	3	784	3	SPAG17	1	118523986	Missense_Mutation	SNP	T	TCGA-DH-5143-01A-01D-1468-08	85853739	118523986	130726635	3	2460											
TBX15	6913	broad.mit.edu	37	1	119428085	119428085	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr1:119428085G>A	ENST00000369429.3	-	8	1088	c.1079C>T	c.(1078-1080)tCg>tTg	p.S360L	TBX15_ENST00000207157.3_Missense_Mutation_p.S254L			Q96SF7	TBX15_HUMAN	T-box 15	360						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5)	37	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)		AGAAGAAGCCGAAGGGGATGG	0.478													4	30					0	0	1	0	0	A	119428085	G	A	119428085	3	1	58	1	0	0	0	0	1	0	0	0	15712	1059	37	1	733	1	TBX15	1	119428085	Missense_Mutation	SNP	G	TCGA-DH-5143-01A-01D-1468-08	904099	119428085	129822536	4	2461											
F5	2153	broad.mit.edu	37	1	169529938	169529938	+	Missense_Mutation	SNP	T	T	C			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr1:169529938T>C	ENST00000367796.3	-	4	641	c.440A>G	c.(439-441)gAa>gGa	p.E147G	F5_ENST00000367797.3_Missense_Mutation_p.E147G|F5_ENST00000546081.1_Missense_Mutation_p.E10G			P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	147	F5/8 type A 1.|Plastocyanin-like 1.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	ATAGGTGTATTCTCGGCCTGG	0.517													43	276					0	0	1	0	0	C	169529938	T	C	169529938	3	2	58	1	0	0	0	0	1	0	0	0	5376	1783	62	3	6322	3	F5	1	169529938	Missense_Mutation	SNP	T	TCGA-DH-5143-01A-01D-1468-08	50101853	169529938	79720683	5	2462											
BPNT1	10380	broad.mit.edu	37	1	220240686	220240686	+	Silent	SNP	T	T	C			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr1:220240686T>C	ENST00000469520.2	-	7	881	c.432A>G	c.(430-432)aaA>aaG	p.K144K	BPNT1_ENST00000322067.7_Silent_p.K144K|BPNT1_ENST00000482136.1_5'UTR|BPNT1_ENST00000544404.1_Silent_p.K89K|BPNT1_ENST00000414869.2_Silent_p.K108K|BPNT1_ENST00000354807.3_Silent_p.K144K			O95861	BPNT1_HUMAN	3'(2'), 5'-bisphosphate nucleotidase 1	144					3'-phosphoadenosine 5'-phosphosulfate metabolic process|nervous system development|xenobiotic metabolic process	cytosol	3'(2'),5'-bisphosphate nucleotidase activity			breast(1)|endometrium(1)|large_intestine(1)|lung(9)|ovary(1)|skin(1)	14				GBM - Glioblastoma multiforme(131;0.0558)		CTGCTATGGCTTTTCCTTCAT	0.289													3	112					0	0	1	0	0	C	220240686	T	C	220240686	2	2	58	1	0	0	0	0	0	0	0	1	1496	1606	56	3		3	BPNT1	1	220240686	Silent	SNP	T	TCGA-DH-5143-01A-01D-1468-08	50710748	220240686	29009935	6	2463											
PCNXL2	80003	broad.mit.edu	37	1	233150467	233150467	+	Silent	SNP	G	G	C			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr1:233150467G>C	ENST00000258229.9	-	28	5130	c.4896C>G	c.(4894-4896)gcC>gcG	p.A1632A	PCNXL2_ENST00000344698.2_Silent_p.A284A	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)							integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				GGGTGCACAGGGCGAAGGACA	0.537													5	169					0	0	1	0	0	C	233150467	G	C	233150467	2	2	58	1	0	0	0	0	0	0	0	1	11639	1219	43	5		5	PCNXL2	1	233150467	Silent	SNP	G	TCGA-DH-5143-01A-01D-1468-08	12909781	233150467	16100154	7	2464											
DUSP11	8446	broad.mit.edu	37	2	74002107	74002107	+	Missense_Mutation	SNP	C	C	A			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr2:74002107C>A	ENST00000443070.1	-	3	388	c.383G>T	c.(382-384)cGa>cTa	p.R128L	DUSP11_ENST00000272444.3_Missense_Mutation_p.R128L|DUSP11_ENST00000377706.4_Missense_Mutation_p.R81L|DUSP11_ENST00000480948.1_5'UTR			O75319	DUS11_HUMAN	dual specificity phosphatase 11 (RNA/RNP complex 1-interacting)	81	Tyrosine-protein phosphatase.				RNA processing	nucleus	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity|RNA binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|skin(1)	12						ATTTTGTTCTCGGATTTTGTT	0.338													3	173					0.115264	0.131273	1	1	0	A	74002107	C	A	74002107	3	1	58	1	0	0	0	0	1	0	0	0	4837	884	31	5	778	5	DUSP11	2	74002107	Missense_Mutation	SNP	C	TCGA-DH-5143-01A-01D-1468-08		74002107	169197266	8	2465											
HOXD4	3233	broad.mit.edu	37	2	177017514	177017514	+	Missense_Mutation	SNP	C	C	A			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr2:177017514C>A	ENST00000306324.3	+	2	1024	c.612C>A	c.(610-612)aaC>aaA	p.N204K	HOXD3_ENST00000468418.3_5'UTR	NM_014621.2	NP_055436.2	P09016	HXD4_HUMAN	homeobox D4	204						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.00765)|Epithelial(96;0.105)	Colorectal(32;0.0224)|READ - Rectum adenocarcinoma(9;0.0556)		GGTTCCAGAACCGGAGGATGA	0.502													19	151					5.3912e-06	6.59819e-06	1	1	0	A	177017514	C	A	177017514	3	1	58	1	0	0	0	0	1	0	0	0	7365	506	18	5	618	5	HOXD4	2	177017514	Missense_Mutation	SNP	C	TCGA-DH-5143-01A-01D-1468-08	103015407	177017514	66181859	9	2466											
ZDBF2	57683	broad.mit.edu	37	2	207169636	207169636	+	Silent	SNP	G	G	A	rs143619911	by1000genomes	TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr2:207169636G>A	ENST00000374423.3	+	5	770	c.384G>A	c.(382-384)acG>acA	p.T128T		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	128							nucleic acid binding|zinc ion binding	p.T128T(1)		endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						AGGAAGGCACGCAGGAGGTTT	0.453													12	62					0	0	1	0	0	A	207169636	G	A	207169636	2	1	58	1	0	0	0	0	0	0	0	1	17657	1074	38	1		1	ZDBF2	2	207169636	Silent	SNP	G	TCGA-DH-5143-01A-01D-1468-08	30152122	207169636	36029737	10	2467											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								41	87					0	0	1	0	0	T	209113112	C	T	209113112	3	4	58	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-DH-5143-01A-01D-1468-08	1943476	209113112	34086261	11	2468											
EPHA4	2043	broad.mit.edu	37	2	222347239	222347239	+	Missense_Mutation	SNP	A	A	G			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr2:222347239A>G	ENST00000281821.2	-	5	1192	c.1151T>C	c.(1150-1152)gTc>gCc	p.V384A	EPHA4_ENST00000409938.1_Missense_Mutation_p.V384A|EPHA4_ENST00000409854.1_Missense_Mutation_p.V384A|EPHA4_ENST00000392071.4_Missense_Mutation_p.V333A	NM_004438.3	NP_004429.1	P54764	EPHA4_HUMAN	EPH receptor A4	384	Fibronectin type-III 1.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		GGTGTAGTGGACCCCACTTCC	0.512													88	518					0	0	1	0	0	G	222347239	A	G	222347239	3	3	58	1	0	0	0	0	1	0	0	0	5197	275	10	3	1861	3	EPHA4	2	222347239	Missense_Mutation	SNP	A	TCGA-DH-5143-01A-01D-1468-08	13234127	222347239	20852134	12	2469											
MLH1	4292	broad.mit.edu	37	3	37045902	37045902	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr3:37045902G>A	ENST00000231790.2	+	4	533	c.317G>A	c.(316-318)aGc>aAc	p.S106N	MLH1_ENST00000458205.2_5'UTR|MLH1_ENST00000492474.1_3'UTR|MLH1_ENST00000455445.2_5'UTR|MLH1_ENST00000539477.1_5'UTR|MLH1_ENST00000536378.1_5'UTR|MLH1_ENST00000435176.1_Missense_Mutation_p.S8N	NM_000249.3|NM_001258273.1	NP_000240.1|NP_001245202.1	P40692	MLH1_HUMAN	mutL homolog 1	106			S -> R (in gastric cancer; uncertain pathogenicity).		mismatch repair|somatic hypermutation of immunoglobulin genes	chiasma|MutLalpha complex|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|protein binding			NS(1)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(54)|lung(13)|oesophagus(7)|ovary(6)|pancreas(5)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	127						GCTTTGGCCAGCATAAGCCAT	0.408		1	"D, Mis, N, F, S"		"colorectal, endometrial, ovarian, CNS"	"colorectal, endometrial, ovarian, CNS"		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				5	246					0	0	1	0	0	A	37045902	G	A	37045902	3	1	58	1	0	0	0	0	1	0	0	0	9665	971	34	2	331	2	MLH1	3	37045902	Missense_Mutation	SNP	G	TCGA-DH-5143-01A-01D-1468-08		37045902	160976528	13	2470											
HIGD1A	25994	broad.mit.edu	37	3	42835698	42835698	+	Missense_Mutation	SNP	C	C	A			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr3:42835698C>A	ENST00000321331.7	-	2	165	c.48G>T	c.(46-48)caG>caT	p.Q16H	HIGD1A_ENST00000430190.1_Missense_Mutation_p.Q16H|HIGD1A_ENST00000470543.1_Intron|HIGD1A_ENST00000418900.2_Missense_Mutation_p.Q16H|HIGD1A_ENST00000452906.2_Missense_Mutation_p.Q30H	NM_001099669.1|NM_014056.3	NP_001093139.1|NP_054775.2	Q9Y241	HIG1A_HUMAN	HIG1 hypoxia inducible domain family, member 1A	16	HIG1.				response to stress	integral to membrane|protein complex	protein binding			lung(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.217)		GTTTTGATCCCTGATCTTCCT	0.398													4	160					0.150653	0.164714	1	1	0	A	42835698	C	A	42835698	3	1	58	1	0	0	0	0	1	0	0	0	7147	680	24	4	245	4	HIGD1A	3	42835698	Missense_Mutation	SNP	C	TCGA-DH-5143-01A-01D-1468-08	5789796	42835698	155186732	14	2471											
GABRB1	2560	broad.mit.edu	37	4	47427893	47427893	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr4:47427893G>A	ENST00000295454.3	+	9	1575	c.1283G>A	c.(1282-1284)cGc>cAc	p.R428H	GABRB1_ENST00000538619.1_Missense_Mutation_p.R358H	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 1	428					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44					Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	AGCAAGGGGCGCATCCGCAGG	0.607													4	174					0	0	1	0	0	A	47427893	G	A	47427893	3	1	58	1	0	0	0	0	1	0	0	0	6201	1087	38	1	1317	1	GABRB1	4	47427893	Missense_Mutation	SNP	G	TCGA-DH-5143-01A-01D-1468-08		47427893	143726383	15	2472											
CEP135	9662	broad.mit.edu	37	4	56823426	56823426	+	Silent	SNP	T	T	C			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr4:56823426T>C	ENST00000257287.4	+	5	634	c.510T>C	c.(508-510)cgT>cgC	p.R170R	CEP135_ENST00000422247.2_Silent_p.R170R	NM_025009.4	NP_079285.2	Q66GS9	CP135_HUMAN	centrosomal protein 135kDa	170					centriole replication|centriole-centriole cohesion|G2/M transition of mitotic cell cycle	centriole|cytosol	protein C-terminus binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(26)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	50	Glioma(25;0.08)|all_neural(26;0.101)					GGCGCCAGCGTATGCAAATTG	0.398													4	271					0	0	1	0	0	C	56823426	T	C	56823426	2	2	58	1	0	0	0	0	0	0	0	1	3269	1625	57	3		3	CEP135	4	56823426	Silent	SNP	T	TCGA-DH-5143-01A-01D-1468-08	9395533	56823426	134330850	16	2473											
MYOT	9499	broad.mit.edu	37	5	137222679	137222679	+	Missense_Mutation	SNP	C	C	A	rs147891371		TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr5:137222679C>A	ENST00000239926.4	+	9	1691	c.1317C>A	c.(1315-1317)gaC>gaA	p.D439E	RP11-381K20.2_ENST00000514616.1_RNA|MYOT_ENST00000421631.2_Missense_Mutation_p.D255E|RP11-381K20.2_ENST00000508281.2_RNA|MYOT_ENST00000515645.1_Missense_Mutation_p.D324E	NM_006790.2	NP_006781	Q9UBF9	MYOTI_HUMAN	myotilin	439	Ig-like C2-type 2.|Necessary for interaction with ACTA1.|Necessary for interaction with FLNC.				muscle contraction	actin cytoskeleton|sarcolemma|sarcomere	actin binding|structural constituent of muscle			cervix(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			CAAGATTAGACGTTACGGGTA	0.328													3	139					0.150653	0.164714	1	1	0	A	137222679	C	A	137222679	3	1	58	1	0	0	0	0	1	0	0	0	10142	535	19	5	1347	5	MYOT	5	137222679	Missense_Mutation	SNP	C	TCGA-DH-5143-01A-01D-1468-08		137222679	43692581	17	2474											
SLIT3	6586	broad.mit.edu	37	5	168112756	168112756	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr5:168112756C>T	ENST00000519560.1	-	31	3910	c.3491G>A	c.(3490-3492)gGc>gAc	p.G1164D	SLIT3_ENST00000332966.8_Missense_Mutation_p.G1171D|SLIT3_ENST00000404867.3_Missense_Mutation_p.G1164D	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	1164	Laminin G-like.				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GGAGTCTTTGCCCACGAAGTT	0.662													4	111					0	0	1	0	0	T	168112756	C	T	168112756	3	4	58	1	0	0	0	0	1	0	0	0	14795	739	26	2	1104	2	SLIT3	5	168112756	Missense_Mutation	SNP	C	TCGA-DH-5143-01A-01D-1468-08	30890077	168112756	12802504	18	2475											
EXOC2	55770	broad.mit.edu	37	6	572531	572531	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr6:572531G>A	ENST00000230449.4	-	13	1567	c.1432C>T	c.(1432-1434)Ctc>Ttc	p.L478F	EXOC2_ENST00000448181.3_Missense_Mutation_p.L73F	NM_018303.5	NP_060773.3	Q96KP1	EXOC2_HUMAN	exocyst complex component 2	478					exocytosis|protein transport					breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|liver(1)|lung(16)|ovary(4)|pancreas(1)|prostate(2)	46	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)		TCACTGAAGAGGCTTCCATTA	0.438													13	69					0	0	1	0	0	A	572531	G	A	572531	3	1	58	1	0	0	0	0	1	0	0	0	5329	1000	35	2	1406	2	EXOC2	6	572531	Missense_Mutation	SNP	G	TCGA-DH-5143-01A-01D-1468-08		572531	170542536	19	2476											
FAM65B	9750	broad.mit.edu	37	6	24843453	24843453	+	Silent	SNP	G	G	A			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr6:24843453G>A	ENST00000259698.4	-	14	1732	c.1557C>T	c.(1555-1557)tgC>tgT	p.C519C	FAM65B_ENST00000538035.1_Silent_p.C498C|FAM65B_ENST00000540914.1_Silent_p.C469C|FAM65B_ENST00000510784.2_Silent_p.C503C|FAM65B_ENST00000378023.4_Silent_p.C469C	NM_014722.2	NP_055537.2	Q9Y4F9	FA65B_HUMAN	family with sequence similarity 65, member B	519					cell differentiation|muscle organ development	cytoskeleton|filopodium|mitochondrion	binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	25						ACTGTCGGCGGCAAGCCTCAG	0.587													4	105					0	0	1	0	0	A	24843453	G	A	24843453	2	1	58	1	0	0	0	0	0	0	0	1	5635	1195	42	2		2	FAM65B	6	24843453	Silent	SNP	G	TCGA-DH-5143-01A-01D-1468-08	24270922	24843453	146271614	20	2477											
PIM1	5292	broad.mit.edu	37	6	37138975	37138975	+	Missense_Mutation	SNP	G	G	C			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr6:37138975G>C	ENST00000373509.5	+	4	688	c.315G>C	c.(313-315)agG>agC	p.R105S		NM_001243186.1|NM_002648.3	NP_001230115.1|NP_002639.1	P11309	PIM1_HUMAN	pim-1 oncogene	196					cell cycle|cell proliferation|multicellular organismal development|negative regulation of apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|protein autophosphorylation	cytoplasm|nucleus|plasma membrane	ATP binding|manganese ion binding|protein binding|protein serine/threonine kinase activity|transcription factor binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(17)|large_intestine(4)|lung(3)|prostate(2)|skin(2)	30			OV - Ovarian serous cystadenocarcinoma(102;0.241)		Adenosine monophosphate(DB00131)	GCGTCATTAGGCTCCTGGACT	0.617			T	BCL6	NHL								5	347					0	0	1	0	0	C	37138975	G	C	37138975	3	2	58	1	0	0	0	0	1	0	0	0	11975	1194	42	5	329	5	PIM1	6	37138975	Missense_Mutation	SNP	G	TCGA-DH-5143-01A-01D-1468-08	12295522	37138975	133976092	21	2478											
TBRG4	9238	broad.mit.edu	37	7	45148519	45148519	+	Silent	SNP	C	C	T			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr7:45148519C>T	ENST00000258770.3	-	2	439	c.318G>A	c.(316-318)cgG>cgA	p.R106R	TBRG4_ENST00000395655.4_Silent_p.R106R|TBRG4_ENST00000494076.1_Silent_p.R106R|TBRG4_ENST00000471142.1_5'UTR|TBRG4_ENST00000361278.3_Silent_p.R106R	NM_004749.3	NP_004740.2	Q969Z0	TBRG4_HUMAN	transforming growth factor beta regulator 4	106					apoptosis|cell cycle arrest|cellular respiration|G1 phase of mitotic cell cycle|positive regulation of cell proliferation	mitochondrion	ATP binding|protein binding|protein kinase activity			cervix(1)|endometrium(3)|large_intestine(2)|lung(8)|skin(1)|stomach(2)	17						AGTGAGAGAGCCGGATAAGTA	0.517													5	242					0	0	1	0	0	T	45148519	C	T	45148519	2	4	58	1	0	0	0	0	0	0	0	1	15709	726	26	2		2	TBRG4	7	45148519	Silent	SNP	C	TCGA-DH-5143-01A-01D-1468-08		45148519	113990144	22	2479											
RBM33	155435	broad.mit.edu	37	7	155530752	155530752	+	Splice_Site	SNP	A	A	G			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr7:155530752A>G	ENST00000401878.3	+	11	1591		c.e11-1			NM_053043.2	NP_444271.2	Q96EV2	RBM33_HUMAN	RNA binding motif protein 33								nucleotide binding|RNA binding			breast(3)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	27	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)		GTTACCTTTCAGTTTCAGGTG	0.468													38	136					0	0	1	0	0	G	155530752	A	G	155530752	5	3	58	1	0	0	0	0	0	0	1	0	13182	202	7	3	1434	3	RBM33	7	155530752	Splice_Site	SNP	A	TCGA-DH-5143-01A-01D-1468-08	110382233	155530752	3607911	23	2480											
DPYS	1807	broad.mit.edu	37	8	105459569	105459569	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr8:105459569C>A	ENST00000351513.2	-	3	718	c.586G>T	c.(586-588)Gga>Tga	p.G196*		NM_001385.2	NP_001376.1	Q14117	DPYS_HUMAN	dihydropyrimidinase	196					protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process	cytosol	dihydropyrimidinase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			ATTAAGTCTCCATTTTCCGCA	0.458													3	82					1	1	1	1	0	A	105459569	C	A	105459569	4	1	58	1	0	0	0	0	0	1	0	0	4772	603	21	5	1001	5	DPYS	8	105459569	Nonsense_Mutation	SNP	C	TCGA-DH-5143-01A-01D-1468-08		105459569	40904453	24	2481											
ZFAT	57623	broad.mit.edu	37	8	135614421	135614421	+	Missense_Mutation	SNP	T	T	C			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr8:135614421T>C	ENST00000520727.1	-	7	1804	c.1505A>G	c.(1504-1506)gAc>gGc	p.D502G	ZFAT_ENST00000520214.1_Missense_Mutation_p.D502G|ZFAT_ENST00000429442.2_Missense_Mutation_p.D502G|ZFAT_ENST00000523399.1_Missense_Mutation_p.D452G|ZFAT_ENST00000520356.1_Missense_Mutation_p.D502G|ZFAT_ENST00000377838.3_Missense_Mutation_p.D514G	NM_001029939.3	NP_001025110.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	514					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			CTGTAGCTGGTCCCCCAGAGC	0.617													4	73					0	0	1	0	0	C	135614421	T	C	135614421	3	2	58	1	0	0	0	0	1	0	0	0	17690	1667	58	3	2234	3	ZFAT	8	135614421	Missense_Mutation	SNP	T	TCGA-DH-5143-01A-01D-1468-08	30154852	135614421	10749601	25	2482											
KIF24	347240	broad.mit.edu	37	9	34256411	34256411	+	Missense_Mutation	SNP	G	G	T			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr9:34256411G>T	ENST00000379166.2	-	11	3313	c.3194C>A	c.(3193-3195)tCt>tAt	p.S1065Y	KIF24_ENST00000402558.2_Missense_Mutation_p.S1065Y|KIF24_ENST00000379174.3_Missense_Mutation_p.S931Y|KIF24_ENST00000345050.2_Missense_Mutation_p.S931Y	NM_194313.2	NP_919289.2	Q5T7B8	KIF24_HUMAN	kinesin family member 24	1065					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(13)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	32			LUSC - Lung squamous cell carcinoma(29;0.0107)			CGAGGGAGGAGACCCTTCGTT	0.592													4	138					0.00909568	0.0105049	1	1	0	T	34256411	G	T	34256411	3	4	58	1	0	0	0	0	1	0	0	0	8334	942	33	4	924	4	KIF24	9	34256411	Missense_Mutation	SNP	G	TCGA-DH-5143-01A-01D-1468-08		34256411	106957020	26	2483											
ODF3	113746	broad.mit.edu	37	11	200001	200001	+	Missense_Mutation	SNP	T	T	G			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr11:200001T>G	ENST00000325113.4	+	7	1050	c.733T>G	c.(733-735)Tac>Gac	p.Y245D	BET1L_ENST00000410108.1_Intron|ODF3_ENST00000525282.1_Missense_Mutation_p.Y198D	NM_053280.3	NP_444510.2	Q96PU9	ODF3A_HUMAN	outer dense fiber of sperm tails 3	245					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm				biliary_tract(1)|breast(1)|kidney(1)|large_intestine(2)|ovary(1)|prostate(2)|skin(1)	9		all_cancers(49;9.23e-07)|all_epithelial(84;0.000315)|Breast(177;0.00122)|Ovarian(85;0.0202)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;3.95e-27)|Epithelial(43;2.66e-26)|OV - Ovarian serous cystadenocarcinoma(40;5.55e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.105)|LUSC - Lung squamous cell carcinoma(625;0.122)		ACACTCTGATTACATGACTCC	0.607													3	94					0	0	1	0	0	G	200001	T	G	200001	3	3	58	1	0	0	0	0	1	0	0	0	10877	1754	61	5	755	5	ODF3	11	200001	Missense_Mutation	SNP	T	TCGA-DH-5143-01A-01D-1468-08		200001	134806515	27	2484											
NAT10	55226	broad.mit.edu	37	11	34152413	34152413	+	Missense_Mutation	SNP	A	A	C	rs147641652		TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr11:34152413A>C	ENST00000257829.3	+	13	1504	c.1298A>C	c.(1297-1299)cAa>cCa	p.Q433P	NAT10_ENST00000527971.1_Intron|NAT10_ENST00000531159.2_Missense_Mutation_p.Q361P	NM_024662.2	NP_078938	Q9H0A0	NAT10_HUMAN	N-acetyltransferase 10 (GCN5-related)	433						nucleolus	ATP binding|N-acetyltransferase activity|protein binding			endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(5;0.0119)|all_hematologic(20;0.0231)				CAGCTCCGTCAACAGAGCGCC	0.567													34	127					0	0	1	0	0	C	34152413	A	C	34152413	3	2	58	1	0	0	0	0	1	0	0	0	10222	130	5	5	1344	5	NAT10	11	34152413	Missense_Mutation	SNP	A	TCGA-DH-5143-01A-01D-1468-08	33952412	34152413	100854103	28	2485											
OR5A1	219982	broad.mit.edu	37	11	59211549	59211549	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr11:59211549C>T	ENST00000302030.2	+	1	933	c.908C>T	c.(907-909)gCc>gTc	p.A303V		NM_001004728.1	NP_001004728.1	Q8NGJ0	OR5A1_HUMAN	olfactory receptor, family 5, subfamily A, member 1	303					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	28						ATCAAGGATGCCCTGTGGAAG	0.428													5	306					0	0	1	0	0	T	59211549	C	T	59211549	3	4	58	1	0	0	0	0	1	0	0	0	11186	739	26	2	910	2	OR5A1	11	59211549	Missense_Mutation	SNP	C	TCGA-DH-5143-01A-01D-1468-08	25059136	59211549	75794967	29	2486											
ARAP1	116985	broad.mit.edu	37	11	72410502	72410502	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr11:72410502C>A	ENST00000359373.5	-	17	3249	c.2398G>T	c.(2398-2400)Gag>Tag	p.E800*	ARAP1_ENST00000495878.1_5'UTR|ARAP1_ENST00000393605.3_Nonsense_Mutation_p.E560*|ARAP1_ENST00000426523.1_Nonsense_Mutation_p.E555*|ARAP1_ENST00000393609.3_Nonsense_Mutation_p.E800*|ARAP1_ENST00000455638.2_Nonsense_Mutation_p.E800*|ARAP1_ENST00000429686.1_Nonsense_Mutation_p.E494*|ARAP1_ENST00000334211.8_Nonsense_Mutation_p.E555*			Q96P48	ARAP1_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1	800	PH 3.				actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction	cytosol|Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|Rho GTPase activator activity|zinc ion binding			cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						CACACAATCTCGCTGGCCCGA	0.592													3	93					1	1	1	1	0	A	72410502	C	A	72410502	4	1	58	1	0	0	0	0	0	1	0	0	835	893	31	5	2030	5	ARAP1	11	72410502	Nonsense_Mutation	SNP	C	TCGA-DH-5143-01A-01D-1468-08	13198953	72410502	62596014	30	2487											
FOXJ2	55810	broad.mit.edu	37	12	8200512	8200512	+	Silent	SNP	G	G	A			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr12:8200512G>A	ENST00000162391.3	+	7	1997	c.852G>A	c.(850-852)tcG>tcA	p.S284S	FOXJ2_ENST00000428177.2_Silent_p.S284S	NM_018416.2	NP_060886.1	Q9P0K8	FOXJ2_HUMAN	forkhead box J2	284					embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development	nucleolus|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding			autonomic_ganglia(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	16				Kidney(36;0.0944)		TCCCACCCTCGAACAACTACT	0.567													9	88					0	0	1	0	0	A	8200512	G	A	8200512	2	1	58	1	0	0	0	0	0	0	0	1	6046	1045	37	1		1	FOXJ2	12	8200512	Silent	SNP	G	TCGA-DH-5143-01A-01D-1468-08		8200512	125651383	31	2488											
A2M	2	broad.mit.edu	37	12	9243977	9243977	+	Silent	SNP	G	G	A			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr12:9243977G>A	ENST00000318602.7	-	19	2596	c.2289C>T	c.(2287-2289)acC>acT	p.T763T		NM_000014.4	NP_000005	P01023	A2MG_HUMAN	alpha-2-macroglobulin	763					blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)	CCTTCCACTCGGTGATGGTGT	0.522													19	174					0	0	1	0	0	A	9243977	G	A	9243977	2	1	58	1	0	0	0	0	0	0	0	1	4	1103	39	1		1	A2M	12	9243977	Silent	SNP	G	TCGA-DH-5143-01A-01D-1468-08	1043465	9243977	124607918	32	2489											
PZP	5858	broad.mit.edu	37	12	9317915	9317915	+	Silent	SNP	G	G	A			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr12:9317915G>A	ENST00000261336.2	-	19	2335	c.2307C>T	c.(2305-2307)acC>acT	p.T769T	PZP_ENST00000539983.1_5'UTR|PZP_ENST00000381997.2_Silent_p.T638T	NM_002864.2	NP_002855.2			pregnancy-zone protein											breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						CCTTCCACTCGGTGATGGTGT	0.537													31	99					0	0	1	0	0	A	9317915	G	A	9317915	2	1	58	1	0	0	0	0	0	0	0	1	12921	1103	39	1		1	PZP	12	9317915	Silent	SNP	G	TCGA-DH-5143-01A-01D-1468-08	73938	9317915	124533980	33	2490											
MANSC1	54682	broad.mit.edu	37	12	12483294	12483294	+	Silent	SNP	C	C	T	rs146158847	byFrequency	TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr12:12483294C>T	ENST00000535902.1	-	4	1526	c.963G>A	c.(961-963)ccG>ccA	p.P321P	MANSC1_ENST00000545735.1_Silent_p.P240P|MANSC1_ENST00000396349.3_Silent_p.P287P			Q9H8J5	MANS1_HUMAN	MANSC domain containing 1	321	Thr-rich.					integral to membrane				breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|skin(1)|stomach(4)	23		Prostate(47;0.0865)		BRCA - Breast invasive adenocarcinoma(232;0.185)		TTTCTGTAAACGGTATGGTTT	0.458													24	210					0	0	1	0	0	T	12483294	C	T	12483294	2	4	58	1	0	0	0	0	0	0	0	1	9274	523	19	1		1	MANSC1	12	12483294	Silent	SNP	C	TCGA-DH-5143-01A-01D-1468-08	3165379	12483294	121368601	34	2491											
COCH	1690	broad.mit.edu	37	14	31348670	31348670	+	Missense_Mutation	SNP	T	T	C			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr14:31348670T>C	ENST00000460581.2	+	4	625	c.79T>C	c.(79-81)Tcc>Ccc	p.S27P	RP11-829H16.3_ENST00000555108.1_RNA|COCH_ENST00000475087.1_Missense_Mutation_p.S139P|COCH_ENST00000396618.3_Missense_Mutation_p.S139P|COCH_ENST00000216361.4_Missense_Mutation_p.S139P			O43405	COCH_HUMAN	cochlin	139					sensory perception of sound	proteinaceous extracellular matrix				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|pancreas(1)|skin(3)	19	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.00645)		ACAAGCAGTGTCCACAGCACA	0.393													44	129					0	0	1	0	0	C	31348670	T	C	31348670	3	2	58	1	0	0	0	0	1	0	0	0	3679	1667	58	3	433	3	COCH	14	31348670	Missense_Mutation	SNP	T	TCGA-DH-5143-01A-01D-1468-08		31348670	76000870	35	2492											
STRN3	29966	broad.mit.edu	37	14	31380280	31380280	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr14:31380280G>A	ENST00000355683.5	-	11	1650	c.1435C>T	c.(1435-1437)Ccg>Tcg	p.P479S	STRN3_ENST00000357479.5_Missense_Mutation_p.P563S	NM_014574.3	NP_055389.3	Q13033	STRN3_HUMAN	striatin, calmodulin binding protein 3	563					negative regulation of estrogen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|response to estradiol stimulus	cytoplasm|dendrite|Golgi apparatus|neuronal cell body|nucleoplasm|nucleus|plasma membrane|protein complex	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity	p.P479T(1)		NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.0124)		CTGGGACTCGGCATATTCCAC	0.368													4	181					0	0	1	0	0	A	31380280	G	A	31380280	3	1	58	1	0	0	0	0	1	0	0	0	15386	1203	42	2	730	2	STRN3	14	31380280	Missense_Mutation	SNP	G	TCGA-DH-5143-01A-01D-1468-08	31610	31380280	75969260	36	2493											
YLPM1	56252	broad.mit.edu	37	14	75248158	75248159	+	Frame_Shift_Del	DEL	AT	AT	-			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr14:75248158_75248159delAT	ENST00000325680.7	+	4	1536_1537	c.1412_1413delAT	c.(1411-1413)catfs	p.H471fs	YLPM1_ENST00000552421.1_Frame_Shift_Del_p.H471fs|YLPM1_ENST00000238571.3_Intron	NM_019589.2	NP_062535.2	P49750	YLPM1_HUMAN	YLP motif containing 1	284					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck				breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		TCCTATCCTCATAAAGATCAGC	0.446													7	42	---	---	---	---						-	75248159	AT	-	75248158	7	5	58	1	0	1	0	1	0	0	0	0	17546	217	8	0	1426	0	YLPM1	14	75248158	Frame_Shift_Del	DEL	AT	TCGA-DH-5143-01A-01D-1468-08	43867878	75248158	32101382	37	2494											
GPR132	29933	broad.mit.edu	37	14	105518221	105518221	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr14:105518221C>T	ENST00000329797.3	-	4	1164	c.253G>A	c.(253-255)Gca>Aca	p.A85T	GPR132_ENST00000392585.2_Missense_Mutation_p.A76T|GPR132_ENST00000546679.1_5'UTR|GPR132_ENST00000539291.2_Missense_Mutation_p.A85T	NM_001278694.1|NM_001278696.1|NM_013345.2	NP_001265623.1|NP_001265625.1|NP_037477.1	Q9UNW8	GP132_HUMAN	G protein-coupled receptor 132	85					response to stress	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.A85T(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	18		all_cancers(154;0.0953)|Melanoma(154;0.155)|all_epithelial(191;0.219)	OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227)	Epithelial(152;0.02)|all cancers(159;0.0419)|OV - Ovarian serous cystadenocarcinoma(161;0.0521)		TCGCAGAGTGCCAGGCAGAGC	0.657													4	176					0	0	1	0	0	T	105518221	C	T	105518221	3	4	58	1	0	0	0	0	1	0	0	0	6682	739	26	2	893	2	GPR132	14	105518221	Missense_Mutation	SNP	C	TCGA-DH-5143-01A-01D-1468-08	30270063	105518221	1831319	38	2495											
BRF1	2972	broad.mit.edu	37	14	105752650	105752650	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr14:105752650G>A	ENST00000546474.1	-	2	15207	c.248C>T	c.(247-249)gCg>gTg	p.A83V	BRF1_ENST00000379937.2_Intron|BRF1_ENST00000327359.3_5'UTR|BRF1_ENST00000548421.1_Missense_Mutation_p.A83V|BRF1_ENST00000440513.3_5'UTR	NM_001242787.1|NM_001519.3	NP_001229716.1|NP_001510.2	Q92994	TF3B_HUMAN	BRF1, RNA polymerase III transcription initiation factor 90 kDa subunit	83					positive regulation of transcription, DNA-dependent|rRNA transcription|transcription initiation from RNA polymerase III promoter|tRNA transcription	transcription factor TFIIIB complex	translation initiation factor activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	24		all_cancers(154;0.0231)|all_epithelial(191;0.0694)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00753)|all cancers(16;0.00925)|Epithelial(46;0.0221)	Epithelial(152;0.14)		CAGGGTCTGCGCTCTCGACTC	0.587													3	34					0	0	1	0	0	A	105752650	G	A	105752650	3	1	58	1	0	0	0	0	1	0	0	0	1512	1087	38	1	1853	1	BRF1	14	105752650	Missense_Mutation	SNP	G	TCGA-DH-5143-01A-01D-1468-08	234429	105752650	1596890	39	2496											
RYR3	6263	broad.mit.edu	37	15	34130251	34130251	+	Missense_Mutation	SNP	T	T	C			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr15:34130251T>C	ENST00000389232.4	+	89	12140	c.12070T>C	c.(12070-12072)Tac>Cac	p.Y4024H	RYR3_ENST00000415757.3_Missense_Mutation_p.Y4019H	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	4024					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TGTGCTAAATTACTTCGAACC	0.468													74	198					0	0	1	0	0	C	34130251	T	C	34130251	3	2	58	1	0	0	0	0	1	0	0	0	13822	1754	61	3	12424	3	RYR3	15	34130251	Missense_Mutation	SNP	T	TCGA-DH-5143-01A-01D-1468-08		34130251	68401141	40	2497											
HDC	3067	broad.mit.edu	37	15	50555560	50555560	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr15:50555560G>A	ENST00000267845.3	-	2	478	c.76C>T	c.(76-78)Cgg>Tgg	p.R26W	HDC_ENST00000543581.1_Missense_Mutation_p.R26W	NM_002112.3	NP_002103.2	P19113	DCHS_HUMAN	histidine decarboxylase	26					catecholamine biosynthetic process|histidine metabolic process		histidine decarboxylase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		all_lung(180;0.0138)		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)	L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114)	CGTCTCTCCCGCACAGTGCTC	0.577													4	168					0	0	1	0	0	A	50555560	G	A	50555560	3	1	58	1	0	0	0	0	1	0	0	0	7056	1086	38	1	1956	1	HDC	15	50555560	Missense_Mutation	SNP	G	TCGA-DH-5143-01A-01D-1468-08	16425309	50555560	51975832	41	2498											
HEXA	3073	broad.mit.edu	37	15	72668152	72668152	+	Silent	SNP	C	C	T			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr15:72668152C>T	ENST00000268097.5	-	1	665	c.162G>A	c.(160-162)gcG>gcA	p.A54A	RP11-106M3.2_ENST00000379915.4_RNA|HEXA_ENST00000567159.1_Silent_p.A54A|HEXA_ENST00000567213.1_5'UTR|HEXA_ENST00000566304.1_Silent_p.A54A|HEXA_ENST00000429918.2_5'UTR|HEXA_ENST00000457859.2_5'UTR	NM_000520.4	NP_000511.2	P06865	HEXA_HUMAN	hexosaminidase A (alpha polypeptide)	54					cell death	lysosome	beta-N-acetylhexosaminidase activity|cation binding|protein heterodimerization activity			breast(2)|cervix(1)|endometrium(3)|kidney(3)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	24						AGCCGGGCTGCGCGGCCGAGC	0.617													5	336					0	0	1	0	0	T	72668152	C	T	72668152	2	4	58	1	0	0	0	0	0	0	0	1	7114	755	27	1		1	HEXA	15	72668152	Silent	SNP	C	TCGA-DH-5143-01A-01D-1468-08	22112592	72668152	29863240	42	2499											
CHD9	80205	broad.mit.edu	37	16	53338156	53338156	+	Missense_Mutation	SNP	C	C	A			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr16:53338156C>A	ENST00000566029.1	+	31	6447	c.6238C>A	c.(6238-6240)Cca>Aca	p.P2080T	CHD9_ENST00000564845.1_Missense_Mutation_p.P2080T|CHD9_ENST00000398510.3_Missense_Mutation_p.P2080T|CHD9_ENST00000447540.1_Missense_Mutation_p.P2080T			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	2080					cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				GCCTGTAAGTCCAAAGAATGG	0.428													3	35					1	1	1	1	0	A	53338156	C	A	53338156	3	1	58	1	0	0	0	0	1	0	0	0	3354	855	30	5	6356	5	CHD9	16	53338156	Missense_Mutation	SNP	C	TCGA-DH-5143-01A-01D-1468-08		53338156	37016597	43	2500											
KIFC3	3801	broad.mit.edu	37	16	57805333	57805333	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr16:57805333C>T	ENST00000379655.4	-	6	799	c.542G>A	c.(541-543)cGt>cAt	p.R181H	KIFC3_ENST00000540079.2_Missense_Mutation_p.R79H|KIFC3_ENST00000421376.2_Missense_Mutation_p.R42H|KIFC3_ENST00000539578.1_Missense_Mutation_p.R123H|KIFC3_ENST00000541240.1_Missense_Mutation_p.R203H|KIFC3_ENST00000543930.1_Missense_Mutation_p.R42H|KIFC3_ENST00000445690.2_Missense_Mutation_p.R181H|KIFC3_ENST00000465878.2_Missense_Mutation_p.R42H|KIFC3_ENST00000562903.1_Missense_Mutation_p.R42H	NM_005550.3	NP_005541.3	Q9BVG8	KIFC3_HUMAN	kinesin family member C3	181					epithelial cell-cell adhesion|microtubule-based movement|visual perception|zonula adherens maintenance	centrosome|cytoplasmic vesicle membrane|kinesin complex|microtubule|zonula adherens	ATP binding|microtubule motor activity			breast(2)|central_nervous_system(3)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23		all_neural(199;0.224)				CAGCTTGTCACGGAGCTGGGC	0.627													6	397					0	0	1	0	0	T	57805333	C	T	57805333	3	4	58	1	0	0	0	0	1	0	0	0	8356	536	19	1	2024	1	KIFC3	16	57805333	Missense_Mutation	SNP	C	TCGA-DH-5143-01A-01D-1468-08	4467177	57805333	32549420	44	2501											
TP53	7157	broad.mit.edu	37	17	7577144	7577144	+	Missense_Mutation	SNP	A	A	C			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr17:7577144A>C	ENST00000420246.2	-	8	926	c.794T>G	c.(793-795)cTg>cGg	p.L265R	TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.L265R|TP53_ENST00000455263.2_Missense_Mutation_p.L265R|TP53_ENST00000445888.2_Missense_Mutation_p.L265R|TP53_ENST00000269305.4_Missense_Mutation_p.L265R	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	265	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		L -> M (in sporadic cancers; somatic mutation).|L -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|L -> Q (in sporadic cancers; somatic mutation).|L -> R (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.L265P(15)|p.0?(8)|p.L265R(5)|p.?(3)|p.G262_F270delGNLLGRNSF(2)|p.G262_S269delGNLLGRNS(2)|p.N263fs*5(1)|p.L265del(1)|p.L265_K305del41(1)|p.E258fs*71(1)|p.L265_R267delLGR(1)|p.L265Q(1)|p.G262fs*2(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)		GTTCCGTCCCAGTAGATTACC	0.522		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)			15	36					0	0	1	0	0	C	7577144	A	C	7577144	3	2	58	1	0	0	0	0	1	0	0	0	16442	188	7	5	492	5	TP53	17	7577144	Missense_Mutation	SNP	A	TCGA-DH-5143-01A-01D-1468-08		7577144	73618066	45	2502											
TP53	7157	broad.mit.edu	37	17	7577538	7577538	+	Missense_Mutation	SNP	C	C	T	rs11540652		TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr17:7577538C>T	ENST00000420246.2	-	7	875	c.743G>A	c.(742-744)cGg>cAg	p.R248Q	TP53_ENST00000413465.2_Missense_Mutation_p.R248Q|TP53_ENST00000359597.4_Missense_Mutation_p.R248Q|TP53_ENST00000455263.2_Missense_Mutation_p.R248Q|TP53_ENST00000445888.2_Missense_Mutation_p.R248Q|TP53_ENST00000269305.4_Missense_Mutation_p.R248Q	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	248	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R248Q(580)|p.R248L(75)|p.R248P(19)|p.R155Q(18)|p.0?(8)|p.?(5)|p.R155L(3)|p.R155P(2)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248fs*>39(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(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)		GATGGGCCTCCGGTTCATGCC	0.572	R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	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)			44	37					0	0	1	0	0	T	7577538	C	T	7577538	3	4	58	1	0	0	0	0	1	0	0	0	16442	652	23	1	547	1	TP53	17	7577538	Missense_Mutation	SNP	C	TCGA-DH-5143-01A-01D-1468-08	394	7577538	73617672	46	2503											
ACACA	31	broad.mit.edu	37	17	35600456	35600456	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr17:35600456C>T	ENST00000353139.5	-	22	3243	c.2762G>A	c.(2761-2763)cGa>cAa	p.R921Q	ACACA_ENST00000335166.5_Missense_Mutation_p.R806Q|ACACA_ENST00000394406.2_Missense_Mutation_p.R884Q|ACACA_ENST00000360679.3_Missense_Mutation_p.R826Q	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	884					acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	TTTCATCAATCGCTCTACCCA	0.423													91	273					0	0	1	0	0	T	35600456	C	T	35600456	3	4	58	1	0	0	0	0	1	0	0	0	106	884	31	1	4529	1	ACACA	17	35600456	Missense_Mutation	SNP	C	TCGA-DH-5143-01A-01D-1468-08	28022918	35600456	45594754	47	2504											
RGS9	8787	broad.mit.edu	37	17	63200387	63200387	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr17:63200387G>A	ENST00000449996.3	+	15	1234	c.1162G>A	c.(1162-1164)Gca>Aca	p.A388T	RGS9_ENST00000262406.9_Missense_Mutation_p.A391T|RGS9_ENST00000443584.3_Missense_Mutation_p.A388T	NM_001081955.2	NP_001075424.1	O75916	RGS9_HUMAN	regulator of G-protein signaling 9	391	RGS.				intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(8)|liver(2)|lung(12)|ovary(2)|prostate(3)|skin(3)	41						GCTGGACGCCGCACAAACCCA	0.562													4	115					0	0	1	0	0	A	63200387	G	A	63200387	3	1	58	1	0	0	0	0	1	0	0	0	13363	1087	38	1	1229	1	RGS9	17	63200387	Missense_Mutation	SNP	G	TCGA-DH-5143-01A-01D-1468-08	27599931	63200387	17994823	48	2505											
FOXK2	3607	broad.mit.edu	37	17	80544072	80544072	+	Silent	SNP	C	C	G	rs111240743		TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr17:80544072C>G	ENST00000335255.5	+	7	1746	c.1572C>G	c.(1570-1572)gtC>gtG	p.V524V		NM_004514.3	NP_004505.2	Q01167	FOXK2_HUMAN	forkhead box K2	524					embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|magnesium ion binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|urinary_tract(1)	17	Breast(20;0.00106)|all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.0371)|BRCA - Breast invasive adenocarcinoma(99;0.0415)			ACAGGGAAGTCAAAGGTAGGC	0.632													3	42					0	0	1	0	0	G	80544072	C	G	80544072	2	3	58	1	0	0	0	0	0	0	0	1	6049	813	29	5		5	FOXK2	17	80544072	Silent	SNP	C	TCGA-DH-5143-01A-01D-1468-08	17343685	80544072	651138	49	2506											
CETN1	1068	broad.mit.edu	37	18	580651	580651	+	Silent	SNP	G	G	T			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr18:580651G>T	ENST00000327228.3	+	1	285	c.243G>T	c.(241-243)acG>acT	p.T81T		NM_004066.1	NP_004057.1	Q12798	CETN1_HUMAN	centrin, EF-hand protein, 1	81	EF-hand 2.				cell division|mitosis	spindle pole	ATP binding|ATP-dependent helicase activity|calcium ion binding|nucleic acid binding			breast(2)|cervix(1)|endometrium(3)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(2)	25						GGGAAGGCACGGGGAAGATCA	0.537													3	84					1	1	1	1	0	T	580651	G	T	580651	2	4	58	1	0	0	0	0	0	0	0	1	3296	1103	39	5		5	CETN1	18	580651	Silent	SNP	G	TCGA-DH-5143-01A-01D-1468-08		580651	77496597	50	2507											
NDUFV2	4729	broad.mit.edu	37	18	9134225	9134241	+	Frame_Shift_Del	DEL	CTTTGACTGAACCACCC	CTTTGACTGAACCACCC	-			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr18:9134225_9134241delCTTTGACTGAACCACCC	ENST00000400033.1	+	9	824_840	c.707_723delCTTTGACTGAACCACCC	c.(706-723)tctttgactgaaccacccfs	p.SLTEPP236fs	RP11-143J12.2_ENST00000582375.1_RNA|NDUFV2_ENST00000318388.6_Frame_Shift_Del_p.SLTEPP233fs|RP11-21J18.1_ENST00000579126.1_RNA|NDUFV2_ENST00000465096.1_3'UTR			P19404	NDUV2_HUMAN	NADH dehydrogenase (ubiquinone) flavoprotein 2, 24kDa	233					cardiac muscle tissue development|mitochondrial electron transport, NADH to ubiquinone|nervous system development|transport	mitochondrial respiratory chain complex I	2 iron, 2 sulfur cluster binding|electron carrier activity|metal ion binding|NAD binding|NADH dehydrogenase (ubiquinone) activity			breast(1)|lung(4)|ovary(1)|stomach(1)	7					NADH(DB00157)	GGTCTTACCTCTTTGACTGAACCACCCAAGGGACCTG	0.346													16	239	---	---	---	---						-	9134241	CTTTGACTGAACCACCC	-	9134225	7	5	58	1	0	1	0	1	0	0	0	0	10347	913	32	0	728	0	NDUFV2	18	9134225	Frame_Shift_Del	DEL	CTTTGACTGAACCACCC	TCGA-DH-5143-01A-01D-1468-08	8553574	9134225	68943023	51	2508											
SPIRE1	56907	broad.mit.edu	37	18	12493109	12493109	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr18:12493109C>T	ENST00000409402.4	-	8	1418	c.1151G>A	c.(1150-1152)cGg>cAg	p.R384Q	SPIRE1_ENST00000383356.2_Missense_Mutation_p.R225Q|SPIRE1_ENST00000410092.3_Missense_Mutation_p.R384Q|SPIRE1_ENST00000453447.2_Missense_Mutation_p.R264Q|SPIRE1_ENST00000464481.1_5'UTR|SPIRE1_ENST00000309836.5_Missense_Mutation_p.R187Q	NM_001128626.1	NP_001122098.1	Q08AE8	SPIR1_HUMAN	spire-type actin nucleation factor 1	384	WH2 2.					cytoskeleton|perinuclear region of cytoplasm	actin binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)	28						TGATACAGGCCGCAGCTTTCT	0.458													13	99					0	0	1	0	0	T	12493109	C	T	12493109	3	4	58	1	0	0	0	0	1	0	0	0	15127	652	23	1	1159	1	SPIRE1	18	12493109	Missense_Mutation	SNP	C	TCGA-DH-5143-01A-01D-1468-08	3358884	12493109	65584139	52	2509											
CALR	811	broad.mit.edu	37	19	13050007	13050007	+	Missense_Mutation	SNP	C	C	G			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr19:13050007C>G	ENST00000316448.5	+	2	224	c.151C>G	c.(151-153)Ctc>Gtc	p.L51V		NM_004343.3	NP_004334.1	P27797	CALR_HUMAN	calreticulin	51	N-domain.				cell cycle arrest|cellular senescence|glucocorticoid receptor signaling pathway|negative regulation of neuron differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of steroid hormone receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of translation|peptide antigen assembly with MHC class I protein complex|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of DNA replication|positive regulation of phagocytosis|post-translational protein modification|protein export from nucleus|protein maturation by protein folding|protein N-linked glycosylation via asparagine|protein stabilization|regulation of apoptosis|sequestering of calcium ion	cytosol|endoplasmic reticulum lumen|extracellular space|MHC class I peptide loading complex|nucleus|perinuclear region of cytoplasm|polysome|proteinaceous extracellular matrix	androgen receptor binding|calcium ion binding|chaperone binding|complement component C1q binding|DNA binding|integrin binding|mRNA binding|protein binding involved in protein folding|sugar binding|ubiquitin protein ligase binding|unfolded protein binding|zinc ion binding			kidney(1)|large_intestine(3)|lung(5)|ovary(1)	10					Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Reteplase(DB00015)|Tenecteplase(DB00031)	CAAATTCGTTCTCAGTTCCGG	0.527											OREG0025278	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	21					0	0	1	0	0	G	13050007	C	G	13050007	3	3	58	1	0	0	0	0	1	0	0	0	2610	913	32	4	157	4	CALR	19	13050007	Missense_Mutation	SNP	C	TCGA-DH-5143-01A-01D-1468-08		13050007	46078976	53	2510											
ZNF675	171392	broad.mit.edu	37	19	23837026	23837026	+	Missense_Mutation	SNP	A	A	C			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr19:23837026A>C	ENST00000359788.4	-	4	877	c.709T>G	c.(709-711)Ttt>Gtt	p.F237V	ZNF675_ENST00000596211.1_Intron|ZNF675_ENST00000600313.1_Intron|ZNF675_ENST00000601935.1_Intron	NM_138330.2	NP_612203.2	Q8TD23	ZN675_HUMAN	zinc finger protein 675	237					bone resorption|cytokine-mediated signaling pathway|hemopoiesis|I-kappaB kinase/NF-kappaB cascade|negative regulation of JNK cascade|negative regulation of osteoclast differentiation|negative regulation of protein kinase activity|negative regulation of transcription, DNA-dependent|regulation of ossification|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				AATTGGTTAAAAGTTCTGTCA	0.323													5	147					0	0	1	0	0	C	23837026	A	C	23837026	3	2	58	1	0	0	0	0	1	0	0	0	18139	14	1	5	1001	5	ZNF675	19	23837026	Missense_Mutation	SNP	A	TCGA-DH-5143-01A-01D-1468-08	10787019	23837026	35291957	54	2511											
HNRNPL	3191	broad.mit.edu	37	19	39334685	39334685	+	Missense_Mutation	SNP	T	T	C			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr19:39334685T>C	ENST00000221419.5	-	5	1136	c.770A>G	c.(769-771)tAt>tGt	p.Y257C	HNRNPL_ENST00000600873.1_Missense_Mutation_p.Y124C	NM_001533.2	NP_001524.2	P14866	HNRPL_HUMAN	heterogeneous nuclear ribonucleoprotein L	257	RRM 2.				nuclear mRNA splicing, via spliceosome	cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding|transcription regulatory region DNA binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575)			ACAGCCAGAATAGATATCAGC	0.517													19	190					0	0	1	0	0	C	39334685	T	C	39334685	3	2	58	1	0	0	0	0	1	0	0	0	7311	1406	49	3	1035	3	HNRNPL	19	39334685	Missense_Mutation	SNP	T	TCGA-DH-5143-01A-01D-1468-08	15497659	39334685	19794298	55	2512											
ADAMTS5	11096	broad.mit.edu	37	21	28327096	28327096	+	Missense_Mutation	SNP	T	T	C			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr21:28327096T>C	ENST00000284987.5	-	2	1320	c.1199A>G	c.(1198-1200)gAt>gGt	p.D400G		NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	400	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						GTGGAGGCCATCGTCTTCAAT	0.517													7	152					0	0	1	0	0	C	28327096	T	C	28327096	3	2	58	1	0	0	0	0	1	0	0	0	268	1435	50	3	1621	3	ADAMTS5	21	28327096	Missense_Mutation	SNP	T	TCGA-DH-5143-01A-01D-1468-08		28327096	19802799	56	2513											
TRABD	80305	broad.mit.edu	37	22	50636413	50636413	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr22:50636413G>A	ENST00000303434.4	+	8	952	c.833G>A	c.(832-834)cGg>cAg	p.R278Q	TRABD_ENST00000395829.1_Missense_Mutation_p.R278Q|TRABD_ENST00000395827.1_Missense_Mutation_p.R278Q|TRABD_ENST00000380909.4_Missense_Mutation_p.R278Q	NM_025204.2	NP_079480.2	Q9H4I3	TRABD_HUMAN	TraB domain containing	278										breast(1)|central_nervous_system(1)|large_intestine(1)|liver(2)|lung(1)|upper_aerodigestive_tract(1)	7		all_cancers(38;1.07e-07)|all_epithelial(38;9.6e-07)|all_lung(38;0.00141)|Breast(42;0.00387)|Lung NSC(38;0.0199)|Ovarian(80;0.142)|Lung SC(80;0.162)		LUAD - Lung adenocarcinoma(64;0.105)		GAGCTGCCTCGGGCCTCTGAC	0.697													35	58					0	0	1	0	0	A	50636413	G	A	50636413	3	1	58	1	0	0	0	0	1	0	0	0	16496	1116	39	1	859	1	TRABD	22	50636413	Missense_Mutation	SNP	G	TCGA-DH-5143-01A-01D-1468-08		50636413	668153	57	2514											
DIAPH2	1730	broad.mit.edu	37	X	96639008	96639008	+	Missense_Mutation	SNP	A	A	T			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chrX:96639008A>T	ENST00000324765.8	+	25	3457	c.3110A>T	c.(3109-3111)cAg>cTg	p.Q1037L	DIAPH2_ENST00000373061.3_Missense_Mutation_p.Q1037L|DIAPH2_ENST00000373054.4_Missense_Mutation_p.Q1033L|DIAPH2_ENST00000355827.4_Missense_Mutation_p.Q1037L|DIAPH2_ENST00000373049.4_Missense_Mutation_p.Q1037L			O60879	DIAP2_HUMAN	diaphanous-related formin 2	1037					cell differentiation|cytokinesis|multicellular organismal development|oogenesis	cytosol|early endosome|Golgi apparatus|mitochondrion|nucleolus	receptor binding|Rho GTPase binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51						TTAGAACGCCAGAAGAAAAAG	0.313													4	51					0	0	1	0	0	T	96639008	A	T	96639008	3	4	58	1	0	0	0	0	1	0	0	0	4547	188	7	5	3208	5	DIAPH2	23	96639008	Missense_Mutation	SNP	A	TCGA-DH-5143-01A-01D-1468-08		96639008	58631552	58	2515											
MID2	11043	broad.mit.edu	37	X	107084365	107084365	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chrX:107084365G>A	ENST00000262843.6	+	2	1018	c.470G>A	c.(469-471)tGt>tAt	p.C157Y	MID2_ENST00000443968.2_Missense_Mutation_p.C157Y	NM_012216.3|NM_052817.2	NP_036348.2|NP_438112.2	Q9UJV3	TRIM1_HUMAN	midline 2	157						centrosome|microtubule	ligase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)	19						TGCATCACCTGTGAGGTCTCC	0.562													20	26					0	0	1	0	0	A	107084365	G	A	107084365	3	1	58	1	0	0	0	0	1	0	0	0	9626	1377	48	2	476	2	MID2	23	107084365	Missense_Mutation	SNP	G	TCGA-DH-5143-01A-01D-1468-08	10445357	107084365	48186195	59	2516											
HIVEP3	59269	broad.mit.edu	37	1	42048832	42048832	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chr1:42048832G>A	ENST00000372584.1	-	3	2651	c.1637C>T	c.(1636-1638)gCc>gTc	p.A546V	HIVEP3_ENST00000247584.5_Missense_Mutation_p.A546V|HIVEP3_ENST00000372583.1_Missense_Mutation_p.A546V|HIVEP3_ENST00000429157.2_Missense_Mutation_p.A546V	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	546	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)				AGTGCAGGCGGCAGAAGGCAT	0.602													3	33					0	0	0.004672	0	0	A	42048832	G	A	42048832	3	1	59	1	0	0	0	0	1	0	0	0	7229	1203	42	2	5607	2	HIVEP3	1	42048832	Missense_Mutation	SNP	G	TCGA-DH-5144-01A-01D-1468-08		42048832	207201789	1	2517											
FUBP1	8880	broad.mit.edu	37	1	78429848	78429848	+	Splice_Site	SNP	C	C	T			TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chr1:78429848C>T	ENST00000370767.1	-	12	1028		c.e12-1		FUBP1_ENST00000370768.2_Splice_Site|FUBP1_ENST00000436586.2_Splice_Site			Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1						transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						GTCCCATCATCTTCAAAACAA	0.363			"F, N"		oligodendroglioma								136	20					0	0	0.00361	0	0	T	78429848	C	T	78429848	5	4	59	1	0	0	0	0	0	0	1	0	6127	927	32	2	1030	2	FUBP1	1	78429848	Splice_Site	SNP	C	TCGA-DH-5144-01A-01D-1468-08	36381016	78429848	170820773	2	2518											
PREB	10113	broad.mit.edu	37	2	27355105	27355105	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chr2:27355105C>T	ENST00000260643.2	-	6	1172	c.919G>A	c.(919-921)Gat>Aat	p.D307N	PREB_ENST00000406567.3_Intron	NM_013388.4	NP_037520.1	Q9HCU5	PREB_HUMAN	prolactin regulatory element binding	307					COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane|nucleus	DNA binding|guanyl-nucleotide exchange factor activity|protein binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CACCTGACATCGAGGCAGGAG	0.617													114	177					0	0	0.00361	0	0	T	27355105	C	T	27355105	3	4	59	1	0	0	0	0	1	0	0	0	12522	884	31	1	350	1	PREB	2	27355105	Missense_Mutation	SNP	C	TCGA-DH-5144-01A-01D-1468-08		27355105	215844268	3	2519											
TMEM131	23505	broad.mit.edu	37	2	98426153	98426153	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chr2:98426153G>A	ENST00000186436.5	-	19	2281	c.2053C>T	c.(2053-2055)Cca>Tca	p.P685S		NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131	685						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						GGTCTTACTGGAAAGGAAGGT	0.423													3	39					0	0	0.004672	0	0	A	98426153	G	A	98426153	3	1	59	1	0	0	0	0	1	0	0	0	16104	1174	41	2	3690	2	TMEM131	2	98426153	Missense_Mutation	SNP	G	TCGA-DH-5144-01A-01D-1468-08	71071048	98426153	144773220	4	2520											
RIF1	55183	broad.mit.edu	37	2	152320343	152320343	+	Missense_Mutation	SNP	A	A	G			TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chr2:152320343A>G	ENST00000243326.5	+	29	4792	c.4309A>G	c.(4309-4311)Agt>Ggt	p.S1437G	RIF1_ENST00000444746.2_Missense_Mutation_p.S1437G|RIF1_ENST00000453091.2_Missense_Mutation_p.S1437G|RIF1_ENST00000428287.2_Missense_Mutation_p.S1437G|RIF1_ENST00000430328.2_Missense_Mutation_p.S1437G			Q5UIP0	RIF1_HUMAN	RAP1 interacting factor homolog (yeast)						cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		TAAGGAAAATAGTCATCAAAA	0.383													3	127					0	0	0.004672	0	0	G	152320343	A	G	152320343	3	3	59	1	0	0	0	0	1	0	0	0	13409	420	15	3	4423	3	RIF1	2	152320343	Missense_Mutation	SNP	A	TCGA-DH-5144-01A-01D-1468-08	53894190	152320343	90879030	5	2521											
ZSWIM2	151112	broad.mit.edu	37	2	187712478	187712478	+	Silent	SNP	C	C	T			TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chr2:187712478C>T	ENST00000295131.2	-	2	249	c.210G>A	c.(208-210)ccG>ccA	p.P70P		NM_182521.2	NP_872327.2	Q8NEG5	ZSWM2_HUMAN	zinc finger, SWIM-type containing 2	70					apoptosis		zinc ion binding	p.P70Q(1)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			CCCCTCCTTTCGGAAATGTGG	0.353													6	205					0	0	0.00308	0	0	T	187712478	C	T	187712478	2	4	59	1	0	0	0	0	0	0	0	1	18281	871	31	1		1	ZSWIM2	2	187712478	Silent	SNP	C	TCGA-DH-5144-01A-01D-1468-08	35392135	187712478	55486895	6	2522											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	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	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								70	79					0	0	0.00361	0	0	T	209113112	C	T	209113112	3	4	59	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-DH-5144-01A-01D-1468-08	21400634	209113112	34086261	7	2523											
C2orf57	165100	broad.mit.edu	37	2	232458005	232458005	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chr2:232458005G>A	ENST00000313965.2	+	1	431	c.343G>A	c.(343-345)Gca>Aca	p.A115T		NM_152614.2	NP_689827.2	Q53QW1	CB057_HUMAN	chromosome 2 open reading frame 57	115										endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|pancreas(1)|prostate(4)|skin(2)	19		Renal(207;0.025)|all_hematologic(139;0.0735)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;1.33e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)		GGTTCAAGACGCAAGGACAAG	0.517													5	209					0	0	0.000602	0	0	A	232458005	G	A	232458005	3	1	59	1	0	0	0	0	1	0	0	0	2192	1087	38	1	345	1	C2orf57	2	232458005	Missense_Mutation	SNP	G	TCGA-DH-5144-01A-01D-1468-08	23344893	232458005	10741368	8	2524											
MKRN2	23609	broad.mit.edu	37	3	12613687	12613687	+	Missense_Mutation	SNP	A	A	G			TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chr3:12613687A>G	ENST00000170447.7	+	4	594	c.457A>G	c.(457-459)Agt>Ggt	p.S153G	MKRN2_ENST00000448482.1_Missense_Mutation_p.S151G|MKRN2_ENST00000411987.1_Missense_Mutation_p.S110G	NM_001271707.1|NM_014160.3	NP_001258636.1|NP_054879.3	Q9H000	MKRN2_HUMAN	makorin ring finger protein 2	153						intracellular	ligase activity|nucleic acid binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(3)	16						TGCCATCAGGAGTGGCCTTGA	0.627													54	50					0	0	0.00361	0	0	G	12613687	A	G	12613687	3	3	59	1	0	0	0	0	1	0	0	0	9655	304	11	3	471	3	MKRN2	3	12613687	Missense_Mutation	SNP	A	TCGA-DH-5144-01A-01D-1468-08		12613687	185408743	9	2525											
TTC21A	199223	broad.mit.edu	37	3	39170636	39170636	+	Missense_Mutation	SNP	T	T	C			TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chr3:39170636T>C	ENST00000301819.6	+	15	2171	c.1994T>C	c.(1993-1995)aTt>aCt	p.I665T	TTC21A_ENST00000440121.1_Missense_Mutation_p.I616T|TTC21A_ENST00000431162.2_Missense_Mutation_p.I664T	NM_145755.2	NP_665698.2	Q8NDW8	TT21A_HUMAN	tetratricopeptide repeat domain 21A	664							binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3)	50				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		CGCATCACCATTGCCAACGTG	0.522													70	82					0	0	0.00361	0	0	C	39170636	T	C	39170636	3	2	59	1	0	0	0	0	1	0	0	0	16749	1493	52	3	2052	3	TTC21A	3	39170636	Missense_Mutation	SNP	T	TCGA-DH-5144-01A-01D-1468-08	26556949	39170636	158851794	10	2526											
NBEAL2	23218	broad.mit.edu	37	3	47041457	47041457	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chr3:47041457C>T	ENST00000450053.3	+	27	4047	c.3868C>T	c.(3868-3870)Cgg>Tgg	p.R1290W	NBEAL2_ENST00000383740.2_5'UTR|NBEAL2_ENST00000292309.5_Intron	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	1290							binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		TGTGCTGACCCGGCTATATGT	0.637													3	30					0	0	0.004672	0	0	T	47041457	C	T	47041457	3	4	59	1	0	0	0	0	1	0	0	0	10237	643	23	1	3974	1	NBEAL2	3	47041457	Missense_Mutation	SNP	C	TCGA-DH-5144-01A-01D-1468-08	7870821	47041457	150980973	11	2527											
PI4K2B	55300	broad.mit.edu	37	4	25258211	25258211	+	Missense_Mutation	SNP	G	G	A	rs115874249	by1000genomes	TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chr4:25258211G>A	ENST00000264864.6	+	4	860	c.671G>A	c.(670-672)cGt>cAt	p.R224H	PI4K2B_ENST00000512921.1_Missense_Mutation_p.R128H	NM_018323.3	NP_060793.2	Q8TCG2	P4K2B_HUMAN	phosphatidylinositol 4-kinase type 2 beta	224	PI3K/PI4K.					cytoplasm|membrane	1-phosphatidylinositol 4-kinase activity|ATP binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(3)|skin(3)	15		Breast(46;0.173)				GCGATTGACCGTGCAAAATCA	0.358													6	210					0	0	0.001168	0	0	A	25258211	G	A	25258211	3	1	59	1	0	0	0	0	1	0	0	0	11920	1145	40	1	685	1	PI4K2B	4	25258211	Missense_Mutation	SNP	G	TCGA-DH-5144-01A-01D-1468-08		25258211	165896065	12	2528											
ALPK1	80216	broad.mit.edu	37	4	113356325	113356326	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chr4:113356325_113356326insA	ENST00000458497.1	+	12	3335_3336	c.3056_3057insA	c.(3055-3060)tcaaaafs	p.SK1019fs	ALPK1_ENST00000504176.2_Frame_Shift_Ins_p.SK941fs|ALPK1_ENST00000177648.9_Frame_Shift_Ins_p.SK1019fs	NM_001102406.1|NM_025144.3	NP_001095876.1|NP_079420.3	Q96QP1	ALPK1_HUMAN	alpha-kinase 1	1019	Alpha-type protein kinase.						ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		TTAAAATATTCAAAAAAATCTG	0.356													9	540	---	---	---	---						A	113356326	-	A	113356325	7	5	59	1	0	1	1	0	0	0	0	0	540	838	29	0	3094	0	ALPK1	4	113356325	Frame_Shift_Ins	INS	-	TCGA-DH-5144-01A-01D-1468-08	88098114	113356325	77797951	13	2529											
BBS7	55212	broad.mit.edu	37	4	122776708	122776708	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chr4:122776708delA	ENST00000264499.4	-	6	720	c.537delT	c.(535-537)gatfs	p.D179fs	BBS7_ENST00000506636.1_Frame_Shift_Del_p.D179fs	NM_176824.2	NP_789794.1	Q8IWZ6	BBS7_HUMAN	Bardet-Biedl syndrome 7	179					cilium morphogenesis|digestive tract morphogenesis|fat cell differentiation|heart looping|melanosome transport|pigment granule aggregation in cell center|response to stimulus|visual perception	BBSome|centrosome|cilium membrane	protein binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						CATACATCACATCAGATCCCT	0.348									Bardet-Biedl syndrome				15	297	---	---	---	---						-	122776708	A	-	122776708	7	5	59	1	0	1	0	1	0	0	0	0	1339	214	8	0	1671	0	BBS7	4	122776708	Frame_Shift_Del	DEL	A	TCGA-DH-5144-01A-01D-1468-08	9420383	122776708	68377568	14	2530											
FBXL7	23194	broad.mit.edu	37	5	15937211	15937211	+	Silent	SNP	C	C	T			TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chr5:15937211C>T	ENST00000504595.1	+	4	1873	c.1392C>T	c.(1390-1392)tgC>tgT	p.C464C	FBXL7_ENST00000510662.1_Silent_p.C417C|FBXL7_ENST00000329673.7_Silent_p.C452C	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	464					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						TCCAGGACTGCGAGGTCTCCG	0.607													18	46					0	0	0.006122	0	0	T	15937211	C	T	15937211	2	4	59	1	0	0	0	0	0	0	0	1	5757	776	27	1		1	FBXL7	5	15937211	Silent	SNP	C	TCGA-DH-5144-01A-01D-1468-08		15937211	164978049	15	2531											
MTX3	345778	broad.mit.edu	37	5	79282781	79282781	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chr5:79282781C>T	ENST00000512560.1	-	6	667	c.548G>A	c.(547-549)aGt>aAt	p.S183N	MTX3_ENST00000509852.1_Missense_Mutation_p.S244N|MTX3_ENST00000512528.1_Missense_Mutation_p.S244N	NM_001167741.1	NP_001161213.1	Q5HYI7	MTX3_HUMAN	metaxin 3	244					protein targeting to mitochondrion	mitochondrial outer membrane				endometrium(1)|large_intestine(3)|lung(2)|urinary_tract(1)	7		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;1.63e-45)|Epithelial(54;2.9e-40)|all cancers(79;4.68e-35)		ACCTCCAAGACTAAGCCTAAA	0.363													7	147					0	0	0.004482	0	0	T	79282781	C	T	79282781	3	4	59	1	0	0	0	0	1	0	0	0	10017	565	20	2	219	2	MTX3	5	79282781	Missense_Mutation	SNP	C	TCGA-DH-5144-01A-01D-1468-08	63345570	79282781	101632479	16	2532											
VPS52	6293	broad.mit.edu	37	6	33235064	33235064	+	Silent	SNP	G	G	A			TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chr6:33235064G>A	ENST00000445902.2	-	11	1244	c.1026C>T	c.(1024-1026)aaC>aaT	p.N342N	VPS52_ENST00000482399.1_3'UTR|VPS52_ENST00000478934.1_Intron|VPS52_ENST00000436044.2_Silent_p.N217N	NM_022553.4	NP_072047.4	Q8N1B4	VPS52_HUMAN	vacuolar protein sorting 52 homolog (S. cerevisiae)	342					protein transport	endosome membrane|Golgi apparatus				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(8)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28						TGAAAATGGTGTTCCTGCTGC	0.562													63	98					0	0	0.00361	0	0	A	33235064	G	A	33235064	2	1	59	1	0	0	0	0	0	0	0	1	17274	1368	48	2		2	VPS52	6	33235064	Silent	SNP	G	TCGA-DH-5144-01A-01D-1468-08		33235064	137880003	17	2533											
TEAD3	7005	broad.mit.edu	37	6	35446212	35446212	+	Splice_Site	SNP	C	C	T			TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chr6:35446212C>T	ENST00000338863.7	-	6	706	c.479G>A	c.(478-480)cGg>cAg	p.R160Q	TEAD3_ENST00000402886.3_Splice_Site_p.R100Q	NM_003214.3	NP_003205	Q99594	TEAD3_HUMAN	TEA domain family member 3	160	Pro-rich.				female pregnancy|hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	10						CCCATGTACCCGCGAGGAAGT	0.617													3	44					0	0	0.000602	0	0	T	35446212	C	T	35446212	5	4	59	1	0	0	0	0	0	0	1	0	15799	666	23	1	860	1	TEAD3	6	35446212	Splice_Site	SNP	C	TCGA-DH-5144-01A-01D-1468-08	2211148	35446212	135668855	18	2534											
MRPL2	51069	broad.mit.edu	37	6	43023893	43023893	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chr6:43023893C>T	ENST00000388752.3	-	4	870	c.446G>A	c.(445-447)cGc>cAc	p.R149H	MRPL2_ENST00000489623.1_Intron|MRPL2_ENST00000230413.5_Missense_Mutation_p.R149H	NM_015950.3	NP_057034.2	Q5T653	RM02_HUMAN	mitochondrial ribosomal protein L2	149					translation	mitochondrion|ribosome	structural constituent of ribosome			breast(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(2)	9		Ovarian(999;0.0014)	Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|all cancers(41;0.00708)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)	BRCA - Breast invasive adenocarcinoma(397;0.0026)		GATGATCCAGCGTTTCCGGCT	0.537													50	75					0	0	0.00361	0	0	T	43023893	C	T	43023893	3	4	59	1	0	0	0	0	1	0	0	0	9834	768	27	1	487	1	MRPL2	6	43023893	Missense_Mutation	SNP	C	TCGA-DH-5144-01A-01D-1468-08	7577681	43023893	128091174	19	2535											
ABCC10	89845	broad.mit.edu	37	6	43413455	43413455	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chr6:43413455C>T	ENST00000244533.3	+	13	3424	c.3065C>T	c.(3064-3066)gCg>gTg	p.A1022V	ABCC10_ENST00000372530.4_Missense_Mutation_p.A1050V	NM_033450.2	NP_258261.2	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	1050	ABC transmembrane type-1 2.					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			CTGGCCAACGCGGCAGGCCTG	0.642													4	94					0	0	0.001168	0	0	T	43413455	C	T	43413455	3	4	59	1	0	0	0	0	1	0	0	0	50	768	27	1	3115	1	ABCC10	6	43413455	Missense_Mutation	SNP	C	TCGA-DH-5144-01A-01D-1468-08	389562	43413455	127701612	20	2536											
ZBTB24	9841	broad.mit.edu	37	6	109802897	109802897	+	Silent	SNP	A	A	T			TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chr6:109802897A>T	ENST00000230122.3	-	2	500	c.333T>A	c.(331-333)gcT>gcA	p.A111A		NM_001164313.1|NM_014797.2	NP_001157785.1|NP_055612.2	O43167	ZBT24_HUMAN	zinc finger and BTB domain containing 24	111	BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	22		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0154)|all cancers(137;0.0216)|OV - Ovarian serous cystadenocarcinoma(136;0.0242)|BRCA - Breast invasive adenocarcinoma(108;0.059)		ACTGAGCAGTAGCCAGGATTT	0.438													5	290					0	0	0.000602	0	0	T	109802897	A	T	109802897	2	4	59	1	0	0	0	0	0	0	0	1	17590	407	15	5		5	ZBTB24	6	109802897	Silent	SNP	A	TCGA-DH-5144-01A-01D-1468-08	66389442	109802897	61312170	21	2537											
ZNF425	155054	broad.mit.edu	37	7	148801188	148801188	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chr7:148801188G>A	ENST00000378061.2	-	4	1907	c.1775C>T	c.(1774-1776)aCg>aTg	p.T592M		NM_001001661.2	NP_001001661.1	Q6IV72	ZN425_HUMAN	zinc finger protein 425	592					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	50	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			AGACTGATGCGTGTAGGTCTT	0.577													8	165					0	0	0.006214	0	0	A	148801188	G	A	148801188	3	1	59	1	0	0	0	0	1	0	0	0	17956	1145	40	1	487	1	ZNF425	7	148801188	Missense_Mutation	SNP	G	TCGA-DH-5144-01A-01D-1468-08		148801188	10337475	22	2538											
DPYSL2	1808	broad.mit.edu	37	8	26484191	26484191	+	Silent	SNP	C	C	T			TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chr8:26484191C>T	ENST00000311151.5	+	5	949	c.537C>T	c.(535-537)tgC>tgT	p.C179C	DPYSL2_ENST00000521913.1_Silent_p.C143C|DPYSL2_ENST00000523027.1_Silent_p.C143C	NM_001386.5	NP_001377.1	Q16555	DPYL2_HUMAN	dihydropyrimidinase-like 2	179					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	dihydropyrimidinase activity|protein binding			breast(1)|endometrium(5)|large_intestine(8)|lung(3)|prostate(1)|skin(1)|stomach(1)	20		all_cancers(63;0.121)|Ovarian(32;2.68e-05)|all_epithelial(46;0.116)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;3.33e-10)|Colorectal(74;0.183)		TAACGGATTGCCAGGTAAGAA	0.463													6	236					0	0	0.006214	0	0	T	26484191	C	T	26484191	2	4	59	1	0	0	0	0	0	0	0	1	4773	747	26	2		2	DPYSL2	8	26484191	Silent	SNP	C	TCGA-DH-5144-01A-01D-1468-08		26484191	119879831	23	2539											
NOTCH1	4851	broad.mit.edu	37	9	139418369	139418369	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chr9:139418369C>T	ENST00000277541.6	-	3	278	c.203G>A	c.(202-204)tGc>tAc	p.C68Y		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	68	EGF-like 2.				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GGCGTTCTTGCAGGGGGTGCT	0.677			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			3	14					0	0	0.004672	0	0	T	139418369	C	T	139418369	3	4	59	1	0	0	0	0	1	0	0	0	10594	710	25	2	7592	2	NOTCH1	9	139418369	Missense_Mutation	SNP	C	TCGA-DH-5144-01A-01D-1468-08		139418369	1795062	24	2540											
ZMYND11	10771	broad.mit.edu	37	10	285431	285431	+	Silent	SNP	A	A	G			TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chr10:285431A>G	ENST00000397962.3	+	7	1091	c.663A>G	c.(661-663)caA>caG	p.Q221Q	ZMYND11_ENST00000381584.1_Silent_p.Q204Q|ZMYND11_ENST00000381591.1_Silent_p.Q221Q|ZMYND11_ENST00000402736.1_Silent_p.Q190Q|ZMYND11_ENST00000545619.1_Silent_p.Q127Q|ZMYND11_ENST00000403354.1_Silent_p.Q167Q|ZMYND11_ENST00000509513.2_Silent_p.Q221Q|ZMYND11_ENST00000381607.4_Silent_p.Q127Q|ZMYND11_ENST00000535374.1_Intron|ZMYND11_ENST00000381604.4_Silent_p.Q181Q|ZMYND11_ENST00000558098.2_Silent_p.Q221Q|ZMYND11_ENST00000381602.4_Silent_p.Q181Q|ZMYND11_ENST00000397959.3_Silent_p.Q136Q|ZMYND11_ENST00000309776.4_Silent_p.Q181Q|ZMYND11_ENST00000602682.1_Silent_p.Q136Q			Q15326	ZMY11_HUMAN	zinc finger, MYND-type containing 11	181					cell cycle|cell proliferation|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|skin(2)	24		all_cancers(4;1.32e-05)|all_lung(4;3.67e-05)|Lung NSC(4;0.000301)|all_epithelial(10;0.000416)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.132)	Epithelial(11;0.00289)|all cancers(11;0.0108)|Lung(33;0.0689)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		CTGATGCCCAATTGCTTCTCC	0.348													83	138					0	0	0.00361	0	0	G	285431	A	G	285431	2	3	59	1	0	0	0	0	0	0	0	1	17764	98	4	3		3	ZMYND11	10	285431	Silent	SNP	A	TCGA-DH-5144-01A-01D-1468-08		285431	135249316	25	2541											
MRPL43	84545	broad.mit.edu	37	10	102741298	102741298	+	Missense_Mutation	SNP	T	T	A			TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chr10:102741298T>A	ENST00000342071.1	-	6	729	c.658A>T	c.(658-660)Atc>Ttc	p.I220F	SEMA4G_ENST00000370250.4_Intron|MRPL43_ENST00000370241.3_Intron|MRPL43_ENST00000370242.4_Intron|RP11-108L7.4_ENST00000447344.1_RNA|SEMA4G_ENST00000210633.3_Intron|MRPL43_ENST00000318325.2_Intron|MRPL43_ENST00000299179.5_Silent_p.I177I|SEMA4G_ENST00000517724.1_Intron	NM_176794.1	NP_789764.1	Q8N983	RM43_HUMAN	mitochondrial ribosomal protein L43	0					translation	mitochondrial ribosome	protein binding|structural constituent of ribosome			endometrium(1)|skin(2)|upper_aerodigestive_tract(1)	4		Colorectal(252;0.234)		Epithelial(162;6.21e-09)|all cancers(201;3.14e-07)		ACTGAACTGATATCTGAAGAA	0.398													46	200					0	0	0.002852	0	0	A	102741298	T	A	102741298	3	1	59	1	0	0	0	0	1	0	0	0	9856	1406	49	4	205	4	MRPL43	10	102741298	Missense_Mutation	SNP	T	TCGA-DH-5144-01A-01D-1468-08	102455867	102741298	32793449	26	2542											
LRRC4C	57689	broad.mit.edu	37	11	40136683	40136683	+	Missense_Mutation	SNP	A	A	G			TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chr11:40136683A>G	ENST00000278198.2	-	2	3123	c.1160T>C	c.(1159-1161)aTt>aCt	p.I387T	LRRC4C_ENST00000527150.1_Missense_Mutation_p.I387T|LRRC4C_ENST00000528697.1_Missense_Mutation_p.I387T|LRRC4C_ENST00000530763.1_Missense_Mutation_p.I387T			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	387	Ig-like C2-type.				regulation of axonogenesis	integral to membrane	protein binding			NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				ATTTGGAGTAATCCAAGATAC	0.493													179	161					0	0	0.00361	0	0	G	40136683	A	G	40136683	3	3	59	1	0	0	0	0	1	0	0	0	9053	101	4	3	766	3	LRRC4C	11	40136683	Missense_Mutation	SNP	A	TCGA-DH-5144-01A-01D-1468-08		40136683	94869833	27	2543											
OR5D18	219438	broad.mit.edu	37	11	55587721	55587721	+	Missense_Mutation	SNP	T	T	C			TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chr11:55587721T>C	ENST00000333976.4	+	1	636	c.616T>C	c.(616-618)Ttt>Ctt	p.F206L		NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D, member 18	206					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				TCTTGCCACCTTTAATGAAAT	0.443													4	247					0	0	0.001168	0	0	C	55587721	T	C	55587721	3	2	59	1	0	0	0	0	1	0	0	0	11204	1609	56	3	618	3	OR5D18	11	55587721	Missense_Mutation	SNP	T	TCGA-DH-5144-01A-01D-1468-08	15451038	55587721	79418795	28	2544											
CFL1	1072	broad.mit.edu	37	11	65623202	65623202	+	Splice_Site	SNP	C	C	T			TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chr11:65623202C>T	ENST00000525451.2	-	4	1027		c.e4-1		CFL1_ENST00000531407.1_Splice_Site|CFL1_ENST00000524553.1_Splice_Site|CFL1_ENST00000308162.5_Splice_Site|CFL1_ENST00000534769.1_Splice_Site|CFL1_ENST00000527344.1_Splice_Site|CFL1_ENST00000531413.1_Splice_Site			P23528	COF1_HUMAN	cofilin 1 (non-muscle)						actin cytoskeleton organization|anti-apoptosis|axon guidance|platelet activation|platelet degranulation|response to virus|Rho protein signal transduction	cytoplasm|cytoskeleton|nuclear matrix	actin binding			breast(1)|kidney(1)|large_intestine(2)|lung(2)	6				READ - Rectum adenocarcinoma(159;0.169)		CTCGGGGGCCCTGGACAGAAA	0.542													6	84					0	0	0.001168	0	0	T	65623202	C	T	65623202	5	4	59	1	0	0	0	0	0	0	1	0	3312	695	24	2	197	2	CFL1	11	65623202	Splice_Site	SNP	C	TCGA-DH-5144-01A-01D-1468-08	10035481	65623202	69383314	29	2545											
NLRX1	79671	broad.mit.edu	37	11	119045448	119045448	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chr11:119045448C>T	ENST00000409109.1	+	6	1723	c.1136C>T	c.(1135-1137)gCc>gTc	p.A379V	NLRX1_ENST00000525863.1_Missense_Mutation_p.A379V|NLRX1_ENST00000292199.2_Missense_Mutation_p.A379V|NLRX1_ENST00000409991.1_Missense_Mutation_p.A379V|NLRX1_ENST00000409265.4_Missense_Mutation_p.A379V	NM_001282144.1	NP_001269073.1	Q86UT6	NLRX1_HUMAN	NLR family member X1	379	NACHT.|Required for interaction with MAVS.				innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production	mitochondrial outer membrane	ATP binding			cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	22	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		CTCGTTTGTGCCACCTTGCAC	0.617													4	146					0	0	0.000248	0	0	T	119045448	C	T	119045448	3	4	59	1	0	0	0	0	1	0	0	0	10532	739	26	2	1154	2	NLRX1	11	119045448	Missense_Mutation	SNP	C	TCGA-DH-5144-01A-01D-1468-08	53422246	119045448	15961068	30	2546											
ARNTL2	56938	broad.mit.edu	37	12	27542188	27542188	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chr12:27542188C>T	ENST00000544915.1	+	7	851	c.632C>T	c.(631-633)tCt>tTt	p.S211F	ARNTL2_ENST00000261178.5_Missense_Mutation_p.S197F|ARNTL2_ENST00000546179.1_Missense_Mutation_p.S208F|ARNTL2_ENST00000266503.5_Missense_Mutation_p.S245F|ARNTL2_ENST00000311001.5_Missense_Mutation_p.S231F|ARNTL2_ENST00000395901.2_Missense_Mutation_p.S208F|ARNTL2_ENST00000542388.1_Missense_Mutation_p.S160F	NM_020183.4	NP_064568.3	Q8WYA1	BMAL2_HUMAN	aryl hydrocarbon receptor nuclear translocator-like 2	245	PAS 1.				circadian rhythm|entrainment of circadian clock|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1)	21	Colorectal(261;0.0847)|Lung SC(9;0.184)					CAACTTTCTTCTTTTGATATT	0.323													55	104					0	0	0.00361	0	0	T	27542188	C	T	27542188	3	4	59	1	0	0	0	0	1	0	0	0	967	913	32	2	764	2	ARNTL2	12	27542188	Missense_Mutation	SNP	C	TCGA-DH-5144-01A-01D-1468-08		27542188	106309707	31	2547											
KRT86	3892	broad.mit.edu	37	12	52698737	52698737	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chr12:52698737C>T	ENST00000293525.5	+	4	713	c.661C>T	c.(661-663)Cgc>Tgc	p.R221C	KRT86_ENST00000544024.1_Missense_Mutation_p.R221C|KRT86_ENST00000423955.2_Missense_Mutation_p.R221C	NM_002284.3	NP_002275.1	O43790	KRT86_HUMAN	keratin 86	221	Coil 1B.|Rod.				cytoskeleton organization	keratin filament	structural molecule activity			breast(1)|cervix(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(357;0.189)		CGCCTACCTCCGCAAATCAGA	0.597													175	213					0	0	0.00361	0	0	T	52698737	C	T	52698737	3	4	59	1	0	0	0	0	1	0	0	0	8543	652	23	1	675	1	KRT86	12	52698737	Missense_Mutation	SNP	C	TCGA-DH-5144-01A-01D-1468-08	25156549	52698737	81153158	32	2548											
ESPL1	9700	broad.mit.edu	37	12	53680351	53680351	+	Silent	SNP	A	A	G			TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chr12:53680351A>G	ENST00000257934.4	+	18	3922	c.3831A>G	c.(3829-3831)ctA>ctG	p.L1277L	ESPL1_ENST00000552462.1_Silent_p.L1277L	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	1277					apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						TCACAAAACTAGGTGGCCTCA	0.542													120	121					0	0	0.00361	0	0	G	53680351	A	G	53680351	2	3	59	1	0	0	0	0	0	0	0	1	5281	407	15	3		3	ESPL1	12	53680351	Silent	SNP	A	TCGA-DH-5144-01A-01D-1468-08	981614	53680351	80171544	33	2549											
SETD8	387893	broad.mit.edu	37	12	123875277	123875277	+	Missense_Mutation	SNP	A	A	G			TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chr12:123875277A>G	ENST00000402868.3	+	3	659	c.233A>G	c.(232-234)cAt>cGt	p.H78R	SETD8_ENST00000330479.4_Missense_Mutation_p.H78R|SETD8_ENST00000478781.2_3'UTR			Q9NQR1	SETD8_HUMAN	SET domain containing (lysine methyltransferase) 8	119					cell division|mitosis|negative regulation of transcription from RNA polymerase II promoter|peptidyl-lysine monomethylation|regulation of DNA damage response, signal transduction by p53 class mediator|transcription, DNA-dependent	chromosome|nucleus	histone-lysine N-methyltransferase activity|p53 binding|transcription corepressor activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(3)|urinary_tract(1)	13	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.00101)|Epithelial(86;0.00425)		TCAGTTACACATCACGAAGTC	0.483													7	180					0	0	0.001984	0	0	G	123875277	A	G	123875277	3	3	59	1	0	0	0	0	1	0	0	0	14191	217	8	3	243	3	SETD8	12	123875277	Missense_Mutation	SNP	A	TCGA-DH-5144-01A-01D-1468-08	70194926	123875277	9976618	34	2550											
CTSG	1511	broad.mit.edu	37	14	25043477	25043477	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chr14:25043477G>A	ENST00000216336.2	-	4	604	c.568C>T	c.(568-570)Cgg>Tgg	p.R190W		NM_001911.2	NP_001902.1	P08311	CATG_HUMAN	cathepsin G	190	Peptidase S1.				immune response|proteolysis	cell surface|extracellular space|plasma membrane|stored secretory granule	heparin binding|serine-type endopeptidase activity			autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(265;0.0269)		CGTTCCCGCCGGTCCCCCACA	0.617													37	44					0	0	0.00623	0	0	A	25043477	G	A	25043477	3	1	59	1	0	0	0	0	1	0	0	0	4059	1115	39	1	207	1	CTSG	14	25043477	Missense_Mutation	SNP	G	TCGA-DH-5144-01A-01D-1468-08		25043477	82306063	35	2551											
NID2	22795	broad.mit.edu	37	14	52477708	52477708	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chr14:52477708G>A	ENST00000216286.5	-	18	3607	c.3608C>T	c.(3607-3609)aCg>aTg	p.T1203M	NID2_ENST00000541773.1_Missense_Mutation_p.T1102M	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	1203						basement membrane	calcium ion binding|collagen binding	p.T1203M(1)		NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					GACACTGTCCGTCCAGTACAT	0.517													5	275					0	0	0.001984	0	0	A	52477708	G	A	52477708	3	1	59	1	0	0	0	0	1	0	0	0	10462	1145	40	1	539	1	NID2	14	52477708	Missense_Mutation	SNP	G	TCGA-DH-5144-01A-01D-1468-08	27434231	52477708	54871832	36	2552											
EXOC5	10640	broad.mit.edu	37	14	57684716	57684716	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chr14:57684716C>T	ENST00000413566.2	-	15	1956	c.1597G>A	c.(1597-1599)Gat>Aat	p.D533N	EXOC5_ENST00000340918.7_Missense_Mutation_p.D468N	NM_006544.3	NP_006535.1	O00471	EXOC5_HUMAN	exocyst complex component 5	533					exocytosis|post-Golgi vesicle-mediated transport|protein transport|vesicle docking	cytoplasm				breast(3)|endometrium(1)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	22						ATGCCAGTATCCAATTTCATC	0.294													43	56					0	0	0.002852	0	0	T	57684716	C	T	57684716	3	4	59	1	0	0	0	0	1	0	0	0	5334	855	30	2	545	2	EXOC5	14	57684716	Missense_Mutation	SNP	C	TCGA-DH-5144-01A-01D-1468-08	5207008	57684716	49664824	37	2553											
MAX	4149	broad.mit.edu	37	14	65544747	65544747	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chr14:65544747C>T	ENST00000284165.6	-	4	327	c.179G>A	c.(178-180)cGg>cAg	p.R60Q	MAX_ENST00000557746.1_Missense_Mutation_p.R51Q|MAX_ENST00000341653.2_Intron|MAX_ENST00000556979.1_Missense_Mutation_p.R60Q|MAX_ENST00000557277.1_5'UTR|MAX_ENST00000358402.4_Missense_Mutation_p.R51Q|MAX_ENST00000358664.4_Missense_Mutation_p.R60Q|MAX_ENST00000555667.1_Missense_Mutation_p.R51Q|MAX_ENST00000555932.1_Intron|MAX_ENST00000555419.1_Missense_Mutation_p.R24Q|MAX_ENST00000556443.1_Missense_Mutation_p.R51Q	NM_145113.2	NP_660088.1	P61244	MAX_HUMAN	MYC associated factor X	60	Helix-loop-helix motif.				transcription from RNA polymerase II promoter	cytoplasm|MLL1 complex	sequence-specific DNA binding transcription factor activity|transcription coactivator activity	p.R60Q(5)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	17				all cancers(60;0.000776)|OV - Ovarian serous cystadenocarcinoma(108;0.00359)|BRCA - Breast invasive adenocarcinoma(234;0.00999)		GATTTGGGCCCGGGATGCCTG	0.498													51	66					0	0	0.00361	0	0	T	65544747	C	T	65544747	3	4	59	1	0	0	0	0	1	0	0	0	9389	652	23	1	527	1	MAX	14	65544747	Missense_Mutation	SNP	C	TCGA-DH-5144-01A-01D-1468-08	7860031	65544747	41804793	38	2554											
ADAM20	8748	broad.mit.edu	37	14	70989595	70989595	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chr14:70989595C>T	ENST00000256389.3	-	2	2274	c.2030G>A	c.(2029-2031)aGt>aAt	p.S677N	RP11-486O13.4_ENST00000556646.1_lincRNA	NM_003814.4	NP_003805.3	O43506	ADA20_HUMAN	ADAM metallopeptidase domain 20	627					proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(2)	27			KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188)	all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344)		ATGAACCATACTGGCACACTT	0.463													249	371					0	0	0.00361	0	0	T	70989595	C	T	70989595	3	4	59	1	0	0	0	0	1	0	0	0	241	565	20	2	304	2	ADAM20	14	70989595	Missense_Mutation	SNP	C	TCGA-DH-5144-01A-01D-1468-08	5444848	70989595	36359945	39	2555											
DYX1C1	161582	broad.mit.edu	37	15	55731774	55731774	+	Silent	SNP	T	T	C			TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chr15:55731774T>C	ENST00000321149.3	-	7	1156	c.789A>G	c.(787-789)ctA>ctG	p.L263L	DYX1C1_ENST00000348518.3_Silent_p.L263L|DYX1C1_ENST00000457155.2_Silent_p.L263L|DYX1C1-CCPG1_ENST00000565113.1_RNA|DYX1C1_ENST00000380679.1_Silent_p.L263L|DYX1C1_ENST00000448430.2_Silent_p.L263L	NM_130810.3	NP_570722.2	Q8WXU2	DYXC1_HUMAN	dyslexia susceptibility 1 candidate 1	263					neuron migration|regulation of estrogen receptor signaling pathway|regulation of proteasomal protein catabolic process	cytoplasm|nucleus	estrogen receptor binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18				all cancers(107;0.0118)|GBM - Glioblastoma multiforme(80;0.171)		CTTGTTTGTGTAGCCACTAGA	0.343													11	71					0	0	0.006122	0	0	C	55731774	T	C	55731774	2	2	59	1	0	0	0	0	0	0	0	1	4888	1625	57	3		3	DYX1C1	15	55731774	Silent	SNP	T	TCGA-DH-5144-01A-01D-1468-08		55731774	46799618	40	2556											
TEX9	374618	broad.mit.edu	37	15	56686922	56686922	+	Missense_Mutation	SNP	C	C	G			TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chr15:56686922C>G	ENST00000558083.2	+	8	823	c.493C>G	c.(493-495)Cag>Gag	p.Q165E	TEX9_ENST00000537232.1_Missense_Mutation_p.Q165E|TEX9_ENST00000561221.2_Missense_Mutation_p.Q240E|RP11-48G14.2_ENST00000564401.1_lincRNA|TEX9_ENST00000352903.2_Missense_Mutation_p.Q240E|TEX9_ENST00000560582.1_5'UTR			Q8N6V9	TEX9_HUMAN	testis expressed 9	240										cervix(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)	14				all cancers(107;0.0394)|GBM - Glioblastoma multiforme(80;0.056)		TATGAGACAGCAGCGAACAAT	0.284													12	71					0	0	0.000978	0	0	G	56686922	C	G	56686922	3	3	59	1	0	0	0	0	1	0	0	0	15844	711	25	5	752	5	TEX9	15	56686922	Missense_Mutation	SNP	C	TCGA-DH-5144-01A-01D-1468-08	955148	56686922	45844470	41	2557											
CNOT1	23019	broad.mit.edu	37	16	58622799	58622799	+	Silent	SNP	C	C	T			TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chr16:58622799C>T	ENST00000317147.5	-	3	446	c.114G>A	c.(112-114)cgG>cgA	p.R38R	CNOT1_ENST00000569240.1_Silent_p.R38R|CNOT1_ENST00000441024.2_Silent_p.R38R	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	38					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol		p.R38R(2)		breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		CAGGACCGTGCCGATTCACAA	0.373													3	46					0	0	0.004672	0	0	T	58622799	C	T	58622799	2	4	59	1	0	0	0	0	0	0	0	1	3640	726	26	2		2	CNOT1	16	58622799	Silent	SNP	C	TCGA-DH-5144-01A-01D-1468-08		58622799	31731954	42	2558											
KRT14	3861	broad.mit.edu	37	17	39739491	39739491	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chr17:39739491C>T	ENST00000167586.6	-	6	1356	c.1270G>A	c.(1270-1272)Gcc>Acc	p.A424T		NM_000526.4	NP_000517	P02533	K1C14_HUMAN	keratin 14	424	Tail.				epidermis development|hemidesmosome assembly|intermediate filament bundle assembly	cytosol|keratin filament|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(3)|lung(7)|ovary(1)|prostate(5)|skin(1)|stomach(1)	25		Breast(137;0.000307)				ACTCACTGGGCGTCCTCGCCC	0.607													4	95					0	0	0.000248	0	0	T	39739491	C	T	39739491	3	4	59	1	0	0	0	0	1	0	0	0	8494	768	27	1	160	1	KRT14	17	39739491	Missense_Mutation	SNP	C	TCGA-DH-5144-01A-01D-1468-08		39739491	41455719	43	2559											
HEATR6	63897	broad.mit.edu	37	17	58133572	58133572	+	Silent	SNP	G	G	A			TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chr17:58133572G>A	ENST00000184956.6	-	13	2122	c.2106C>T	c.(2104-2106)taC>taT	p.Y702Y	HEATR6_ENST00000585976.1_Intron	NM_022070.4	NP_071353.4	Q6AI08	HEAT6_HUMAN	HEAT repeat containing 6	702							binding			NS(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	44	all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10)			TCATTGAAAAGTAGCCCCTTG	0.453													10	157					0	0	0.006214	0	0	A	58133572	G	A	58133572	2	1	59	1	0	0	0	0	0	0	0	1	7074	1024	36	2		2	HEATR6	17	58133572	Silent	SNP	G	TCGA-DH-5144-01A-01D-1468-08	18394081	58133572	23061638	44	2560											
AZU1	566	broad.mit.edu	37	19	831737	831737	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chr19:831737G>A	ENST00000233997.2	+	5	637	c.616G>A	c.(616-618)Gtc>Atc	p.V206I		NM_001700.3	NP_001691.1	P20160	CAP7_HUMAN	azurocidin 1	206	Peptidase S1.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|cellular extravasation|defense response to Gram-negative bacterium|glial cell migration|induction of positive chemotaxis|inflammatory response|macrophage chemotaxis|microglial cell activation|monocyte activation|positive regulation of cell adhesion|positive regulation of fractalkine biosynthetic process|positive regulation of interleukin-1 beta biosynthetic process|positive regulation of MHC class II biosynthetic process|positive regulation of phagocytosis|positive regulation of tumor necrosis factor biosynthetic process|proteolysis|regulation of vascular permeability	azurophil granule|extracellular region	heparin binding|serine-type endopeptidase activity|toxin binding			NS(1)|endometrium(1)|kidney(1)|lung(4)|pancreas(1)|upper_aerodigestive_tract(2)	10		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)		CACCCCCCTCGTCTGCGAGGG	0.706													21	25					0	0	0.001523	0	0	A	831737	G	A	831737	3	1	59	1	0	0	0	0	1	0	0	0	1241	1145	40	1	634	1	AZU1	19	831737	Missense_Mutation	SNP	G	TCGA-DH-5144-01A-01D-1468-08		831737	58297246	45	2561											
CLEC4M	10332	broad.mit.edu	37	19	7830088	7830088	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chr19:7830088G>A	ENST00000327325.5	+	3	266	c.148G>A	c.(148-150)Gcc>Acc	p.A50T	CLEC4M_ENST00000596707.1_Intron|CLEC4M_ENST00000359059.5_Intron|CLEC4M_ENST00000248228.4_Missense_Mutation_p.A50T|CLEC4M_ENST00000394122.2_Missense_Mutation_p.A42T|CLEC4M_ENST00000596363.1_Missense_Mutation_p.A22T|CLEC4M_ENST00000334806.5_Missense_Mutation_p.A22T|CLEC4M_ENST00000595496.1_Intron|CLEC4M_ENST00000357361.2_Missense_Mutation_p.A50T|CLEC4M_ENST00000597522.1_Missense_Mutation_p.A50T	NM_001144909.1|NM_014257.4	NP_001138381.1|NP_055072.3	Q9H2X3	CLC4M_HUMAN	C-type lectin domain family 4, member M	50					cell-cell recognition|endocytosis|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to plasma membrane	ICAM-3 receptor activity|mannose binding|metal ion binding|peptide antigen binding|virion binding	p.A50P(2)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1)	26						TGGCCATGGCGCCCTGGTGCT	0.632													86	108					0	0	0.00361	0	0	A	7830088	G	A	7830088	3	1	59	1	0	0	0	0	1	0	0	0	3541	1087	38	1	158	1	CLEC4M	19	7830088	Missense_Mutation	SNP	G	TCGA-DH-5144-01A-01D-1468-08	6998351	7830088	51298895	46	2562											
ZNF506	440515	broad.mit.edu	37	19	19906098	19906098	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chr19:19906098G>A	ENST00000443905.2	-	4	745	c.598C>T	c.(598-600)Cgc>Tgc	p.R200C	ZNF506_ENST00000450683.2_Missense_Mutation_p.R168C|CTC-559E9.6_ENST00000589657.1_RNA|CTC-559E9.4_ENST00000590274.1_lincRNA|ZNF506_ENST00000540806.2_Missense_Mutation_p.R200C|CTC-559E9.6_ENST00000591884.1_RNA|ZNF506_ENST00000587461.1_Intron			Q5JVG8	ZN506_HUMAN	zinc finger protein 506	200					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(7)|lung(3)|skin(1)|stomach(1)	14						CATTTATAGCGTTTCTCTCCA	0.338													6	109					0	0	0.001168	0	0	A	19906098	G	A	19906098	3	1	59	1	0	0	0	0	1	0	0	0	18009	1145	40	1	740	1	ZNF506	19	19906098	Missense_Mutation	SNP	G	TCGA-DH-5144-01A-01D-1468-08	12076010	19906098	39222885	47	2563											
CIC	23152	broad.mit.edu	37	19	42799059	42799059	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chr19:42799059C>T	ENST00000572681.2	+	21	7329	c.7261C>T	c.(7261-7263)Cgc>Tgc	p.R2421C	CIC_ENST00000160740.3_Missense_Mutation_p.R1513C|CIC_ENST00000575354.2_Missense_Mutation_p.R1515C			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	1515					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CCGTGAGGTGCGCCAGAAGAT	0.632			"Mis, F, S"		oligodendroglioma								45	12					0	0	0.003214	0	0	T	42799059	C	T	42799059	3	4	59	1	0	0	0	0	1	0	0	0	3446	768	27	1	4621	1	CIC	19	42799059	Missense_Mutation	SNP	C	TCGA-DH-5144-01A-01D-1468-08	22892961	42799059	16329924	48	2564											
KIF16B	55614	broad.mit.edu	37	20	16360615	16360615	+	Missense_Mutation	SNP	T	T	C			TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chr20:16360615T>C	ENST00000354981.2	-	19	2189	c.2032A>G	c.(2032-2034)Aaa>Gaa	p.K678E	KIF16B_ENST00000378003.2_5'UTR|KIF16B_ENST00000355755.3_Missense_Mutation_p.K678E|KIF16B_ENST00000408042.1_Missense_Mutation_p.K678E	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	678	Glu-rich.				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						TCTTCAAATTTTTCCTTCTCC	0.498													40	250					0	0	0.005524	0	0	C	16360615	T	C	16360615	3	2	59	1	0	0	0	0	1	0	0	0	8320	1850	64	3	1953	3	KIF16B	20	16360615	Missense_Mutation	SNP	T	TCGA-DH-5144-01A-01D-1468-08		16360615	46664905	49	2565											
SMC1B	27127	broad.mit.edu	37	22	45768073	45768073	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chr22:45768073C>A	ENST00000357450.4	-	13	2157	c.2158G>T	c.(2158-2160)Gag>Tag	p.E720*	SMC1B_ENST00000404354.3_Nonsense_Mutation_p.E720*	NM_148674.3	NP_683515.3	Q8NDV3	SMC1B_HUMAN	structural maintenance of chromosomes 1B	720					chromosome organization|meiosis	chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus	ATP binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		TTAATCATCTCTAGTTCATTT	0.348													5	173					0.00116845	0.0014281	0.001168	1	0	A	45768073	C	A	45768073	4	1	59	1	0	0	0	0	0	1	0	0	14836	922	32	4	1601	4	SMC1B	22	45768073	Nonsense_Mutation	SNP	C	TCGA-DH-5144-01A-01D-1468-08		45768073	5536493	50	2566											
SRPX	8406	broad.mit.edu	37	X	38079976	38079978	+	In_Frame_Del	DEL	GCA	GCA	-	rs72445954		TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chrX:38079976_38079978delGCA	ENST00000378533.3	-	1	174_176	c.68_70delTGC	c.(67-72)ctgcgc>cgc	p.L23del	TM4SF2_ENST00000465127.1_Intron|SRPX_ENST00000343800.6_Intron|SRPX_ENST00000538295.1_In_Frame_Del_p.L23del|SRPX_ENST00000432886.2_In_Frame_Del_p.L23del|SRPX_ENST00000544439.1_In_Frame_Del_p.L23del	NM_006307.4	NP_006298.1	P78539	SRPX_HUMAN	sushi-repeat containing protein, X-linked	23			Missing.		cell adhesion	cell surface|membrane		p.L23delL(2)		autonomic_ganglia(1)|breast(2)|endometrium(5)|large_intestine(5)|lung(10)|prostate(2)	25						GGCGGGACGCgcagcagcagcag	0.729											OREG0019726	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	2	---	---	---	---						-	38079978	GCA	-	38079976	7	5	59	1	0	1	0	1	0	0	0	0	15220	1087	38	0	1364	0	SRPX	23	38079976	In_Frame_Del	DEL	GCA	TCGA-DH-5144-01A-01D-1468-08		38079976	117190584	51	2567											
DLG3	1741	broad.mit.edu	37	X	69670626	69670626	+	Silent	SNP	C	C	T			TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chrX:69670626C>T	ENST00000194900.4	+	7	1373	c.1032C>T	c.(1030-1032)taC>taT	p.Y344Y	DLG3_ENST00000374360.3_Silent_p.Y326Y			Q92796	DLG3_HUMAN	discs, large homolog 3 (Drosophila)	326					axon guidance|negative regulation of cell proliferation|synaptic transmission	plasma membrane	guanylate kinase activity	p.Y326Y(1)		endometrium(4)|kidney(1)|large_intestine(10)|lung(5)|pancreas(1)|urinary_tract(1)	22	Renal(35;0.156)					CCCCTGACTACGCCAGCAGTA	0.532													17	104					0	0	0.001882	0	0	T	69670626	C	T	69670626	2	4	59	1	0	0	0	0	0	0	0	1	4584	547	19	1		1	DLG3	23	69670626	Silent	SNP	C	TCGA-DH-5144-01A-01D-1468-08	31590650	69670626	85599934	52	2568											
ATRX	546	broad.mit.edu	37	X	76949414	76949414	+	Missense_Mutation	SNP	A	A	G			TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chrX:76949414A>G	ENST00000373344.5	-	6	597	c.383T>C	c.(382-384)gTa>gCa	p.V128A	ATRX_ENST00000373341.1_Missense_Mutation_p.V89A|ATRX_ENST00000395603.3_Intron|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	128					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)	CTCTGGCTGTACAATCACTGT	0.348			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						83	203					0	0	0.00361	0	0	G	76949414	A	G	76949414	3	3	59	1	0	0	0	0	1	0	0	0	1206	391	14	3	7215	3	ATRX	23	76949414	Missense_Mutation	SNP	A	TCGA-DH-5144-01A-01D-1468-08	7278788	76949414	78321146	53	2569											
COL4A5	1287	broad.mit.edu	37	X	107930900	107930900	+	Missense_Mutation	SNP	A	A	G			TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chrX:107930900A>G	ENST00000328300.6	+	49	4748	c.4504A>G	c.(4504-4506)Aaa>Gaa	p.K1502E	COL4A5_ENST00000361603.2_Missense_Mutation_p.K1496E	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	1496	Collagen IV NC1.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						ACAAGGAAATAAAAGAGCCCA	0.433									Alport syndrome with Diffuse Leiomyomatosis				20	419					0	0	0.002299	0	0	G	107930900	A	G	107930900	3	3	59	1	0	0	0	0	1	0	0	0	3717	363	13	3	4683	3	COL4A5	23	107930900	Missense_Mutation	SNP	A	TCGA-DH-5144-01A-01D-1468-08	30981486	107930900	47339660	54	2570											
AMMECR1	9949	broad.mit.edu	37	X	109444269	109444269	+	Missense_Mutation	SNP	T	T	C			TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chrX:109444269T>C	ENST00000262844.5	-	5	967	c.800A>G	c.(799-801)cAt>cGt	p.H267R	AMMECR1_ENST00000372059.2_Missense_Mutation_p.H230R|AMMECR1_ENST00000372057.1_Missense_Mutation_p.H144R	NM_015365.2	NP_056180.1	Q9Y4X0	AMER1_HUMAN	Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1	267	AMMECR1.									large_intestine(1)|lung(4)|ovary(1)|stomach(1)	7						GGTCTGTATATGGTCCCATCC	0.373													147	168					0	0	0.00361	0	0	C	109444269	T	C	109444269	3	2	59	1	0	0	0	0	1	0	0	0	574	1464	51	3	209	3	AMMECR1	23	109444269	Missense_Mutation	SNP	T	TCGA-DH-5144-01A-01D-1468-08	1513369	109444269	45826291	55	2571											
GPC3	2719	broad.mit.edu	37	X	132887716	132887716	+	Silent	SNP	G	G	A			TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chrX:132887716G>A	ENST00000370818.3	-	3	1270	c.825C>T	c.(823-825)ggC>ggT	p.G275G	GPC3_ENST00000394299.2_Silent_p.G275G|GPC3_ENST00000543339.1_Silent_p.G221G	NM_001164618.1|NM_004484.3	NP_001158090.1|NP_004475.1	P51654	GPC3_HUMAN	glypican 3	275						extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding|peptidyl-dipeptidase inhibitor activity			breast(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|prostate(1)|skin(2)	36	Acute lymphoblastic leukemia(192;0.000127)					TGCAGTAACCGCCACAGGGTT	0.483			"T, D, Mis, N, F, S"			Wilms tumour			Simpson-Golabi-Behmel syndrome				156	128					0	0	0.00361	0	0	A	132887716	G	A	132887716	2	1	59	1	0	0	0	0	0	0	0	1	6639	1074	38	1		1	GPC3	23	132887716	Silent	SNP	G	TCGA-DH-5144-01A-01D-1468-08	23443447	132887716	22382844	56	2572											
GPR50	9248	broad.mit.edu	37	X	150349210	150349210	+	Missense_Mutation	SNP	C	C	A			TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chrX:150349210C>A	ENST00000218316.3	+	2	1224	c.1155C>A	c.(1153-1155)caC>caA	p.H385Q		NM_004224.3	NP_004215.2	Q13585	MTR1L_HUMAN	G protein-coupled receptor 50	385	Pro-rich.				cell-cell signaling	integral to plasma membrane	melatonin receptor activity			breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38	Acute lymphoblastic leukemia(192;6.56e-05)					CCTCTGGCCACCCTAAGCCCC	0.582													124	157					1.75558e-51	2.20702e-51	0.00361	1	0	A	150349210	C	A	150349210	3	1	59	1	0	0	0	0	1	0	0	0	6737	506	18	5	1161	5	GPR50	23	150349210	Missense_Mutation	SNP	C	TCGA-DH-5144-01A-01D-1468-08	17461494	150349210	4921350	57	2573											
ARHGAP4	393	broad.mit.edu	37	X	153175536	153175536	+	Silent	SNP	G	G	A			TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chrX:153175536G>A	ENST00000370028.3	-	19	2337	c.2280C>T	c.(2278-2280)gaC>gaT	p.D760D	ARHGAP4_ENST00000393721.1_Silent_p.D542D|ARHGAP4_ENST00000467421.1_5'UTR|ARHGAP4_ENST00000370016.1_Silent_p.D699D|ARHGAP4_ENST00000350060.5_Silent_p.D720D|ARHGAP4_ENST00000537206.1_Silent_p.D697D	NM_001164741.1	NP_001158213.1	P98171	RHG04_HUMAN	Rho GTPase activating protein 4	720	SH3.				apoptosis|cytoskeleton organization|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|Rho protein signal transduction	cytosol|focal adhesion|nucleus	Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCAGCTGGGCGTCCCTGAGGT	0.682													7	94					0	0	0.001984	0	0	A	153175536	G	A	153175536	2	1	59	1	0	0	0	0	0	0	0	1	882	1136	40	1		1	ARHGAP4	23	153175536	Silent	SNP	G	TCGA-DH-5144-01A-01D-1468-08	2826326	153175536	2095024	58	2574											
GDI1	2664	broad.mit.edu	37	X	153668416	153668416	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chrX:153668416C>T	ENST00000447750.2	+	5	852	c.517C>T	c.(517-519)Cgg>Tgg	p.R173W		NM_001493.2	NP_001484.1	P31150	GDIA_HUMAN	GDP dissociation inhibitor 1	173					protein transport|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|midbody	GTPase activator activity|protein binding	p.R173R(1)		autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	16	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TGACGTCTACCGGAAGTTTGA	0.577													296	489					0	0	0.00361	0	0	T	153668416	C	T	153668416	3	4	59	1	0	0	0	0	1	0	0	0	6362	643	23	1	535	1	GDI1	23	153668416	Missense_Mutation	SNP	C	TCGA-DH-5144-01A-01D-1468-08	492880	153668416	1602144	59	2575											
CROCC	9696	broad.mit.edu	37	1	17250900	17250900	+	Missense_Mutation	SNP	G	G	A	rs140882535		TCGA-DH-A669-01A-12D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	425bf16e-aeb2-453a-932b-b3f59016b041	e849abef-b55e-4124-b760-09101a7c4390	g.chr1:17250900G>A	ENST00000375541.5	+	3	346	c.277G>A	c.(277-279)Gtg>Atg	p.V93M	CROCC_ENST00000467938.1_Intron	NM_014675.3	NP_055490.3	Q5TZA2	CROCC_HUMAN	ciliary rootlet coiled-coil, rootletin	93					cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity			breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		GCTGTCCCGCGTGGAGGACCT	0.657													19	24					0	0	1	0	0	A	17250900	G	A	17250900	3	1	60	1	0	0	0	0	1	0	0	0	3916	1145	40	1	287	1	CROCC	1	17250900	Missense_Mutation	SNP	G	TCGA-DH-A669-01A-12D-A31L-08		17250900	231999721	1	2576											
NTRK1	4914	broad.mit.edu	37	1	156846352	156846352	+	Missense_Mutation	SNP	A	A	G			TCGA-DH-A669-01A-12D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	425bf16e-aeb2-453a-932b-b3f59016b041	e849abef-b55e-4124-b760-09101a7c4390	g.chr1:156846352A>G	ENST00000368196.3	+	13	1895	c.1775A>G	c.(1774-1776)aAc>aGc	p.N592S	NTRK1_ENST00000392302.2_Missense_Mutation_p.N562S|NTRK1_ENST00000524377.1_Missense_Mutation_p.N598S|NTRK1_ENST00000358660.3_Missense_Mutation_p.N595S	NM_001012331.1	NP_001012331.1	P04629	NTRK1_HUMAN	neurotrophic tyrosine kinase, receptor, type 1	598	Protein kinase.				activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Imatinib(DB00619)	GGGGACCTCAACCGCTTCCTC	0.642			T	"TPM3, TPR, TFG"	papillary thyroid					TSP Lung(10;0.080)			11	22					0	0	1	0	0	G	156846352	A	G	156846352	3	3	60	1	0	0	0	0	1	0	0	0	10754	43	2	3	1977	3	NTRK1	1	156846352	Missense_Mutation	SNP	A	TCGA-DH-A669-01A-12D-A31L-08	139595452	156846352	92404269	2	2577											
KIRREL	55243	broad.mit.edu	37	1	158061183	158061183	+	Silent	SNP	G	G	A			TCGA-DH-A669-01A-12D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	425bf16e-aeb2-453a-932b-b3f59016b041	e849abef-b55e-4124-b760-09101a7c4390	g.chr1:158061183G>A	ENST00000368172.1	+	7	762	c.750G>A	c.(748-750)ggG>ggA	p.G250G	KIRREL_ENST00000416935.2_Silent_p.G336G|KIRREL_ENST00000360089.4_Silent_p.G272G|KIRREL_ENST00000368173.3_Silent_p.G452G|KIRREL_ENST00000359209.6_Silent_p.G436G|KIRREL_ENST00000392272.2_Silent_p.G333G			Q96J84	KIRR1_HUMAN	kin of IRRE like (Drosophila)	436	Ig-like C2-type 3.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1)	38	all_hematologic(112;0.0378)					TGGAGGTGGGGACCCTGGAAC	0.572													15	136					0	0	1	0	0	A	158061183	G	A	158061183	2	1	60	1	0	0	0	0	0	0	0	1	8367	1161	41	2		2	KIRREL	1	158061183	Silent	SNP	G	TCGA-DH-A669-01A-12D-A31L-08	1214831	158061183	91189438	3	2578											
OR10K1	391109	broad.mit.edu	37	1	158435787	158435787	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-A669-01A-12D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	425bf16e-aeb2-453a-932b-b3f59016b041	e849abef-b55e-4124-b760-09101a7c4390	g.chr1:158435787G>A	ENST00000289451.2	+	1	516	c.436G>A	c.(436-438)Gct>Act	p.A146T		NM_001004473.1	NP_001004473.1	Q8NGX5	O10K1_HUMAN	olfactory receptor, family 10, subfamily K, member 1	146					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	27	all_hematologic(112;0.0378)					GGGACTAATGGCTGCTGCCTG	0.552													15	234					0	0	1	0	0	A	158435787	G	A	158435787	3	1	60	1	0	0	0	0	1	0	0	0	10961	1203	42	2	438	2	OR10K1	1	158435787	Missense_Mutation	SNP	G	TCGA-DH-A669-01A-12D-A31L-08	374604	158435787	90814834	4	2579											
C1orf65	164127	broad.mit.edu	37	1	223568629	223568629	+	Silent	SNP	C	C	T			TCGA-DH-A669-01A-12D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	425bf16e-aeb2-453a-932b-b3f59016b041	e849abef-b55e-4124-b760-09101a7c4390	g.chr1:223568629C>T	ENST00000366875.3	+	1	1915	c.1812C>T	c.(1810-1812)tcC>tcT	p.S604S		NM_152610.2	NP_689823.2	Q8N715	CA065_HUMAN	chromosome 1 open reading frame 65	604										breast(4)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|skin(3)	29				GBM - Glioblastoma multiforme(131;0.0704)		CCAACAGCTCCCTTGATCAGA	0.582													25	37					0	0	1	0	0	T	223568629	C	T	223568629	2	4	60	1	0	0	0	0	0	0	0	1	2069	610	22	2		2	C1orf65	1	223568629	Silent	SNP	C	TCGA-DH-A669-01A-12D-A31L-08	65132842	223568629	25681992	5	2580											
LYPD6B	130576	broad.mit.edu	37	2	150064872	150064872	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-A669-01A-12D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	425bf16e-aeb2-453a-932b-b3f59016b041	e849abef-b55e-4124-b760-09101a7c4390	g.chr2:150064872G>A	ENST00000409642.3	+	5	675	c.274G>A	c.(274-276)Gca>Aca	p.A92T	LYPD6B_ENST00000280115.7_Missense_Mutation_p.A92T|LYPD6B_ENST00000498249.1_3'UTR|LYPD6B_ENST00000409029.1_Missense_Mutation_p.A68T|LYPD6B_ENST00000409876.1_Missense_Mutation_p.A68T	NM_177964.3	NP_808879.2	Q8NI32	LPD6B_HUMAN	LY6/PLAUR domain containing 6B	68	UPAR/Ly6.					anchored to membrane|plasma membrane				endometrium(3)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	11						TTGTGAAAACGCAGGGGATAA	0.373													44	44					0	0	1	0	0	A	150064872	G	A	150064872	3	1	60	1	0	0	0	0	1	0	0	0	9161	1087	38	1	288	1	LYPD6B	2	150064872	Missense_Mutation	SNP	G	TCGA-DH-A669-01A-12D-A31L-08		150064872	93134501	6	2581											
DYNC1I2	1781	broad.mit.edu	37	2	172549335	172549335	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-A669-01A-12D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	425bf16e-aeb2-453a-932b-b3f59016b041	e849abef-b55e-4124-b760-09101a7c4390	g.chr2:172549335C>T	ENST00000534253.2	+	3	325	c.157C>T	c.(157-159)Ctt>Ttt	p.L53F	DYNC1I2_ENST00000410079.3_Missense_Mutation_p.L53F|DYNC1I2_ENST00000409197.1_Missense_Mutation_p.L53F|DYNC1I2_ENST00000409317.1_Missense_Mutation_p.L53F|DYNC1I2_ENST00000397119.3_Missense_Mutation_p.L53F|DYNC1I2_ENST00000263811.4_Missense_Mutation_p.L53F|DYNC1I2_ENST00000508530.1_Missense_Mutation_p.L53F|DYNC1I2_ENST00000358002.6_Missense_Mutation_p.L53F|DYNC1I2_ENST00000409773.1_Missense_Mutation_p.L53F|DYNC1I2_ENST00000409453.1_Missense_Mutation_p.L53F|DYNC1I2_ENST00000340296.4_Missense_Mutation_p.L53F			Q13409	DC1I2_HUMAN	dynein, cytoplasmic 1, intermediate chain 2	53					G2/M transition of mitotic cell cycle|interspecies interaction between organisms|microtubule-based movement|transport	centrosome|cytosol|dynein complex|microtubule|vesicle	microtubule motor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)	15			OV - Ovarian serous cystadenocarcinoma(117;0.198)			AGAATCAGATCTTGAAAAAAA	0.353													6	8					0	0	1	0	0	T	172549335	C	T	172549335	3	4	60	1	0	0	0	0	1	0	0	0	4869	913	32	2	163	2	DYNC1I2	2	172549335	Missense_Mutation	SNP	C	TCGA-DH-A669-01A-12D-A31L-08	22484463	172549335	70650038	7	2582											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-DH-A669-01A-12D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	425bf16e-aeb2-453a-932b-b3f59016b041	e849abef-b55e-4124-b760-09101a7c4390	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	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								26	31					0	0	1	0	0	T	209113112	C	T	209113112	3	4	60	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-DH-A669-01A-12D-A31L-08	36563777	209113112	34086261	8	2583											
UGT1A1	54658	broad.mit.edu	37	2	234526858	234526858	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-A669-01A-12D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	425bf16e-aeb2-453a-932b-b3f59016b041	e849abef-b55e-4124-b760-09101a7c4390	g.chr2:234526858G>A	ENST00000373450.4	+	1	568	c.505G>A	c.(505-507)Gcc>Acc	p.A169T		NM_019076.4	NP_061949.3	P22309	UD11_HUMAN							bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding			breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)	TGTGGTCTTCGCCAGGGGAAT	0.468													64	126					0	0	1	0	0	A	234526858	G	A	234526858	3	1	60	1	0	0	0	0	1	0	0	0	17004	1087	38	1		1	UGT1A1	2	234526858	Missense_Mutation	SNP	G	TCGA-DH-A669-01A-12D-A31L-08	25413746	234526858	8672515	9	2584											
SETD2	29072	broad.mit.edu	37	3	47088034	47088035	+	Frame_Shift_Ins	INS	-	-	TGTA			TCGA-DH-A669-01A-12D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	425bf16e-aeb2-453a-932b-b3f59016b041	e849abef-b55e-4124-b760-09101a7c4390	g.chr3:47088034_47088035insTGTA	ENST00000409792.3	-	16	7082_7083	c.7040_7041insTACA	c.(7039-7041)cagfs	p.Q2347fs		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	2347	Gln-rich.|Low charge region.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		CTGCGGCTGGCTGTACCACCAC	0.455			"N, F, S, Mis"		clear cell renal carcinoma								28	39	---	---	---	---						TGTA	47088035	-	TGTA	47088034	7	5	60	1	0	1	1	0	0	0	0	0	14185	796	28	0	677	0	SETD2	3	47088034	Frame_Shift_Ins	INS	-	TCGA-DH-A669-01A-12D-A31L-08		47088034	150934396	10	2585											
SETD2	29072	broad.mit.edu	37	3	47147518	47147518	+	Missense_Mutation	SNP	T	T	C			TCGA-DH-A669-01A-12D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	425bf16e-aeb2-453a-932b-b3f59016b041	e849abef-b55e-4124-b760-09101a7c4390	g.chr3:47147518T>C	ENST00000409792.3	-	6	4850	c.4808A>G	c.(4807-4809)cAt>cGt	p.H1603R		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	1603	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		GAAATAGTAATGGATGTTTTT	0.398			"N, F, S, Mis"		clear cell renal carcinoma								22	100					0	0	1	0	0	C	47147518	T	C	47147518	3	2	60	1	0	0	0	0	1	0	0	0	14185	1464	51	3	2950	3	SETD2	3	47147518	Missense_Mutation	SNP	T	TCGA-DH-A669-01A-12D-A31L-08	59484	47147518	150874912	11	2586											
LAMB2	3913	broad.mit.edu	37	3	49161202	49161202	+	Silent	SNP	G	G	A			TCGA-DH-A669-01A-12D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	425bf16e-aeb2-453a-932b-b3f59016b041	e849abef-b55e-4124-b760-09101a7c4390	g.chr3:49161202G>A	ENST00000418109.1	-	25	3920	c.3756C>T	c.(3754-3756)gcC>gcT	p.A1252A	LAMB2_ENST00000305544.4_Silent_p.A1252A	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN	laminin, beta 2 (laminin S)	1252	Domain II.				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity			NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CAGTGGAGGCGGCTGAGGTGT	0.622													30	85					0	0	1	0	0	A	49161202	G	A	49161202	2	1	60	1	0	0	0	0	0	0	0	1	8650	1103	39	1		1	LAMB2	3	49161202	Silent	SNP	G	TCGA-DH-A669-01A-12D-A31L-08	2013684	49161202	148861228	12	2587											
HYAL1	3373	broad.mit.edu	37	3	50338477	50338477	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-A669-01A-12D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	425bf16e-aeb2-453a-932b-b3f59016b041	e849abef-b55e-4124-b760-09101a7c4390	g.chr3:50338477G>A	ENST00000266031.4	-	2	1547	c.932C>T	c.(931-933)gCg>gTg	p.A311V	HYAL1_ENST00000395144.2_Missense_Mutation_p.A311V|HYAL1_ENST00000320295.8_Missense_Mutation_p.A311V|HYAL1_ENST00000395143.2_Intron|HYAL1_ENST00000447605.2_Missense_Mutation_p.A52V|HYAL1_ENST00000457214.2_Missense_Mutation_p.A129V			Q12794	HYAL1_HUMAN	hyaluronoglucosaminidase 1	311						extracellular space|lysosome	hyalurononglucosaminidase activity			cervix(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)	Hyaluronidase(DB00070)	CCCCTGGGCCGCACTCTCCCC	0.627													3	38					0	0	1	0	0	A	50338477	G	A	50338477	3	1	60	1	0	0	0	0	1	0	0	0	7507	1087	38	1	383	1	HYAL1	3	50338477	Missense_Mutation	SNP	G	TCGA-DH-A669-01A-12D-A31L-08	1177275	50338477	147683953	13	2588											
GRM2	2912	broad.mit.edu	37	3	51751835	51751835	+	Splice_Site	SNP	T	T	A			TCGA-DH-A669-01A-12D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	425bf16e-aeb2-453a-932b-b3f59016b041	e849abef-b55e-4124-b760-09101a7c4390	g.chr3:51751835T>A	ENST00000395052.3	+	5	2779		c.e5+2		GRM2_ENST00000475478.1_Splice_Site|GRM2_ENST00000442933.2_Splice_Site	NM_000839.3	NP_000830.2	Q14416	GRM2_HUMAN	glutamate receptor, metabotropic 2						synaptic transmission	integral to plasma membrane				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Acamprosate(DB00659)|Nicotine(DB00184)	TTGGCCAAGGTCAGTGTCCTA	0.622													20	42					0	0	1	0	0	A	51751835	T	A	51751835	5	1	60	1	0	0	0	0	0	0	1	0	6838	1681	58	5	2561	5	GRM2	3	51751835	Splice_Site	SNP	T	TCGA-DH-A669-01A-12D-A31L-08	1413358	51751835	146270595	14	2589											
PBRM1	55193	broad.mit.edu	37	3	52643673	52643673	+	Silent	SNP	C	C	T			TCGA-DH-A669-01A-12D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	425bf16e-aeb2-453a-932b-b3f59016b041	e849abef-b55e-4124-b760-09101a7c4390	g.chr3:52643673C>T	ENST00000356770.4	-	15	2129	c.2127G>A	c.(2125-2127)ccG>ccA	p.P709P	PBRM1_ENST00000409057.1_Silent_p.P741P|PBRM1_ENST00000409767.1_Silent_p.P756P|PBRM1_ENST00000410007.1_Silent_p.P741P|PBRM1_ENST00000296302.7_Silent_p.P741P|PBRM1_ENST00000409114.3_Silent_p.P756P|PBRM1_ENST00000394830.3_Silent_p.P741P|PBRM1_ENST00000337303.4_Silent_p.P741P			Q86U86	PB1_HUMAN	polybromo 1	741	Bromo 5.				chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		TCAAAGACTCCGGCTCATTGT	0.423			"Mis, N, F, S, D, O"		"clear cell renal carcinoma, breast"								11	84					0	0	1	0	0	T	52643673	C	T	52643673	2	4	60	1	0	0	0	0	0	0	0	1	11538	639	23	1		1	PBRM1	3	52643673	Silent	SNP	C	TCGA-DH-A669-01A-12D-A31L-08	891838	52643673	145378757	15	2590											
ZIC4	84107	broad.mit.edu	37	3	147108875	147108875	+	Missense_Mutation	SNP	T	T	C			TCGA-DH-A669-01A-12D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	425bf16e-aeb2-453a-932b-b3f59016b041	e849abef-b55e-4124-b760-09101a7c4390	g.chr3:147108875T>C	ENST00000383075.3	-	4	1359	c.847A>G	c.(847-849)Aag>Gag	p.K283E	ZIC4_ENST00000491672.1_Missense_Mutation_p.K77E|ZIC4_ENST00000472749.2_5'UTR|ZIC4_ENST00000425731.3_Missense_Mutation_p.K321E|ZIC4_ENST00000473123.1_Missense_Mutation_p.K283E|ZIC4_ENST00000525172.2_Missense_Mutation_p.K333E|ZIC4_ENST00000484399.1_Missense_Mutation_p.K283E	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN	Zic family member 4	283						nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						TTCATGTGCTTACGCAGCGAG	0.642													23	61					0	0	1	0	0	C	147108875	T	C	147108875	3	2	60	1	0	0	0	0	1	0	0	0	17739	1763	61	3	165	3	ZIC4	3	147108875	Missense_Mutation	SNP	T	TCGA-DH-A669-01A-12D-A31L-08	94465202	147108875	50913555	16	2591											
RBM46	166863	broad.mit.edu	37	4	155720132	155720132	+	Missense_Mutation	SNP	A	A	G			TCGA-DH-A669-01A-12D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	425bf16e-aeb2-453a-932b-b3f59016b041	e849abef-b55e-4124-b760-09101a7c4390	g.chr4:155720132A>G	ENST00000510397.1	+	4	997	c.818A>G	c.(817-819)tAt>tGt	p.Y273C	RBM46_ENST00000281722.3_Missense_Mutation_p.Y273C|RBM46_ENST00000514866.1_Missense_Mutation_p.Y273C	NM_001277173.1	NP_001264102.1	Q8TBY0	RBM46_HUMAN	RNA binding motif protein 46	273	RRM 3.						nucleotide binding|RNA binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|skin(3)|urinary_tract(2)	26	all_hematologic(180;0.24)	Renal(120;0.0854)				CTTAGAGATTATGCTTTTGTT	0.363													14	13					0	0	1	0	0	G	155720132	A	G	155720132	3	3	60	1	0	0	0	0	1	0	0	0	13192	449	16	3	828	3	RBM46	4	155720132	Missense_Mutation	SNP	A	TCGA-DH-A669-01A-12D-A31L-08		155720132	35434144	17	2592											
TRIML2	205860	broad.mit.edu	37	4	189026001	189026001	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-A669-01A-12D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	425bf16e-aeb2-453a-932b-b3f59016b041	e849abef-b55e-4124-b760-09101a7c4390	g.chr4:189026001G>A	ENST00000512729.1	-	2	499	c.125C>T	c.(124-126)gCg>gTg	p.A42V	TRIML2_ENST00000326754.3_Missense_Mutation_p.A42V|TRIML2_ENST00000536972.1_Missense_Mutation_p.A92V	NM_173553.1	NP_775824.1	Q8N7C3	TRIMM_HUMAN	tripartite motif family-like 2	42							ligase activity			central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1)	39		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)		CTGAATCATCGCCATTCTTTC	0.363													16	65					0	0	1	0	0	A	189026001	G	A	189026001	3	1	60	1	0	0	0	0	1	0	0	0	16612	1087	38	1	1062	1	TRIML2	4	189026001	Missense_Mutation	SNP	G	TCGA-DH-A669-01A-12D-A31L-08	33305869	189026001	2128275	18	2593											
CDH12	1010	broad.mit.edu	37	5	21817119	21817119	+	Missense_Mutation	SNP	C	C	A			TCGA-DH-A669-01A-12D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	425bf16e-aeb2-453a-932b-b3f59016b041	e849abef-b55e-4124-b760-09101a7c4390	g.chr5:21817119C>A	ENST00000382254.1	-	9	2023	c.937G>T	c.(937-939)Ggg>Tgg	p.G313W	CDH12_ENST00000521384.1_5'UTR|CDH12_ENST00000522262.1_Missense_Mutation_p.G273W|CDH12_ENST00000504376.2_Missense_Mutation_p.G313W	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	313	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						AAATTTCCCCCATCTCCTGGA	0.383										HNSCC(59;0.17)			43	49					1.31131e-34	1.38518e-34	1	1	0	A	21817119	C	A	21817119	3	1	60	1	0	0	0	0	1	0	0	0	3120	594	21	5	1475	5	CDH12	5	21817119	Missense_Mutation	SNP	C	TCGA-DH-A669-01A-12D-A31L-08		21817119	159098141	19	2594											
HIST1H1E	3008	broad.mit.edu	37	6	26156726	26156726	+	Silent	SNP	T	T	A	rs148044098		TCGA-DH-A669-01A-12D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	425bf16e-aeb2-453a-932b-b3f59016b041	e849abef-b55e-4124-b760-09101a7c4390	g.chr6:26156726T>A	ENST00000304218.3	+	1	168	c.108T>A	c.(106-108)tcT>tcA	p.S36S		NM_005321.2	NP_005312.1	P10412	H14_HUMAN	histone cluster 1, H1e	36	H15.				nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding			NS(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	26						GCAAAGCGTCTGGGCCCCCGG	0.662													23	54					0	0	1	0	0	A	26156726	T	A	26156726	2	1	60	1	0	0	0	0	0	0	0	1	7167	1567	55	5		5	HIST1H1E	6	26156726	Silent	SNP	T	TCGA-DH-A669-01A-12D-A31L-08		26156726	144958341	20	2595											
DHX16	8449	broad.mit.edu	37	6	30638670	30638670	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-A669-01A-12D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	425bf16e-aeb2-453a-932b-b3f59016b041	e849abef-b55e-4124-b760-09101a7c4390	g.chr6:30638670C>T	ENST00000376442.3	-	3	701	c.506G>A	c.(505-507)cGt>cAt	p.R169H		NM_001164239.1|NM_003587.4	NP_001157711.1|NP_003578.2	O60231	DHX16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 16	169					mRNA processing|RNA splicing	nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity			kidney(2)|ovary(2)	4						AAGGCGTTCACGCTCTGTCCG	0.557													4	71					0	0	1	0	0	T	30638670	C	T	30638670	3	4	60	1	0	0	0	0	1	0	0	0	4530	536	19	1	2691	1	DHX16	6	30638670	Missense_Mutation	SNP	C	TCGA-DH-A669-01A-12D-A31L-08	4481944	30638670	140476397	21	2596											
ITPR3	3710	broad.mit.edu	37	6	33638268	33638268	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-A669-01A-12D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	425bf16e-aeb2-453a-932b-b3f59016b041	e849abef-b55e-4124-b760-09101a7c4390	g.chr6:33638268G>A	ENST00000374316.5	+	20	3416	c.2356G>A	c.(2356-2358)Gtg>Atg	p.V786M	ITPR3_ENST00000605930.1_Missense_Mutation_p.V786M			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	786					activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						GCACGTGCACGTGGACCGTGA	0.622													73	51					0	0	1	0	0	A	33638268	G	A	33638268	3	1	60	1	0	0	0	0	1	0	0	0	7966	1145	40	1	2430	1	ITPR3	6	33638268	Missense_Mutation	SNP	G	TCGA-DH-A669-01A-12D-A31L-08	2999598	33638268	137476799	22	2597											
TDRD6	221400	broad.mit.edu	37	6	46660106	46660106	+	Missense_Mutation	SNP	T	T	C			TCGA-DH-A669-01A-12D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	425bf16e-aeb2-453a-932b-b3f59016b041	e849abef-b55e-4124-b760-09101a7c4390	g.chr6:46660106T>C	ENST00000544460.1	+	1	4495	c.4241T>C	c.(4240-4242)tTg>tCg	p.L1414S	TDRD6_ENST00000316081.6_Missense_Mutation_p.L1414S	NM_001168359.1	NP_001161831.1	O60522	TDRD6_HUMAN	tudor domain containing 6	1414					cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			TTGCCGGGGTTGTGCATTCAT	0.408													76	122					0	0	1	0	0	C	46660106	T	C	46660106	3	2	60	1	0	0	0	0	1	0	0	0	15793	1821	63	3	4243	3	TDRD6	6	46660106	Missense_Mutation	SNP	T	TCGA-DH-A669-01A-12D-A31L-08	13021838	46660106	124454961	23	2598											
EEF1A1	1915	broad.mit.edu	37	6	74229701	74229701	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-A669-01A-12D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	425bf16e-aeb2-453a-932b-b3f59016b041	e849abef-b55e-4124-b760-09101a7c4390	g.chr6:74229701C>T	ENST00000316292.9	-	1	1040	c.49G>A	c.(49-51)Gat>Aat	p.D17N	EEF1A1_ENST00000331523.2_Missense_Mutation_p.D17N|EEF1A1_ENST00000309268.6_Missense_Mutation_p.D17N	NM_001402.5	NP_001393.1	P68104	EF1A1_HUMAN	eukaryotic translation elongation factor 1 alpha 1	17						cytosol|eukaryotic translation elongation factor 1 complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|prostate(2)|skin(3)	18						TTGCCCGAATCTACGTGTCCA	0.423													11	37					0	0	1	0	0	T	74229701	C	T	74229701	3	4	60	1	0	0	0	0	1	0	0	0	4949	913	32	2	1367	2	EEF1A1	6	74229701	Missense_Mutation	SNP	C	TCGA-DH-A669-01A-12D-A31L-08	27569595	74229701	96885366	24	2599											
TAAR2	9287	broad.mit.edu	37	6	132939136	132939136	+	Missense_Mutation	SNP	T	T	C			TCGA-DH-A669-01A-12D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	425bf16e-aeb2-453a-932b-b3f59016b041	e849abef-b55e-4124-b760-09101a7c4390	g.chr6:132939136T>C	ENST00000275191.2	-	1	181	c.74A>G	c.(73-75)tAc>tGc	p.Y25C	TAAR2_ENST00000537809.1_Missense_Mutation_p.Y25C|TAAR2_ENST00000367931.1_Missense_Mutation_p.Y70C	NM_014626.3	NP_055441.2	Q9P1P5	TAAR2_HUMAN	trace amine associated receptor 2	70						plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(1)	23	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00608)|GBM - Glioblastoma multiforme(226;0.0151)		CTGCTTGAAGTAGGAAATGGA	0.428													10	59					0	0	1	0	0	C	132939136	T	C	132939136	3	2	60	1	0	0	0	0	1	0	0	0	15547	1638	57	3	850	3	TAAR2	6	132939136	Missense_Mutation	SNP	T	TCGA-DH-A669-01A-12D-A31L-08	58709435	132939136	38175931	25	2600											
ZDHHC14	79683	broad.mit.edu	37	6	158068387	158068387	+	Missense_Mutation	SNP	C	C	A			TCGA-DH-A669-01A-12D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	425bf16e-aeb2-453a-932b-b3f59016b041	e849abef-b55e-4124-b760-09101a7c4390	g.chr6:158068387C>A	ENST00000359775.5	+	7	1841	c.952C>A	c.(952-954)Ccc>Acc	p.P318T	ZDHHC14_ENST00000414563.2_Missense_Mutation_p.P318T|ZDHHC14_ENST00000341375.8_3'UTR			Q8IZN3	ZDH14_HUMAN	zinc finger, DHHC-type containing 14	318						integral to membrane	acyltransferase activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1)	17		Breast(66;0.00586)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;2.9e-17)|BRCA - Breast invasive adenocarcinoma(81;5.8e-05)		CCTGTGTGGGCCCATCTCACC	0.498													56	39					1.73933e-33	1.78698e-33	1	1	0	A	158068387	C	A	158068387	3	1	60	1	0	0	0	0	1	0	0	0	17662	739	26	5	978	5	ZDHHC14	6	158068387	Missense_Mutation	SNP	C	TCGA-DH-A669-01A-12D-A31L-08	25129251	158068387	13046680	26	2601											
SEMA3E	9723	broad.mit.edu	37	7	83119432	83119432	+	Missense_Mutation	SNP	C	C	G			TCGA-DH-A669-01A-12D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	425bf16e-aeb2-453a-932b-b3f59016b041	e849abef-b55e-4124-b760-09101a7c4390	g.chr7:83119432C>G	ENST00000307792.3	-	2	741	c.274G>C	c.(274-276)Gag>Cag	p.E92Q	SEMA3E_ENST00000427262.1_Missense_Mutation_p.E32Q	NM_012431.2	NP_036563.1	O15041	SEM3E_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E	92	Sema.				axon guidance	extracellular space|membrane	receptor activity			breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				TTCTATACCTCTTTATAGCCG	0.388													26	24					0	0	1	0	0	G	83119432	C	G	83119432	3	3	60	1	0	0	0	0	1	0	0	0	14082	922	32	4	2117	4	SEMA3E	7	83119432	Missense_Mutation	SNP	C	TCGA-DH-A669-01A-12D-A31L-08		83119432	76019231	27	2602											
PARP12	64761	broad.mit.edu	37	7	139734050	139734050	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-A669-01A-12D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	425bf16e-aeb2-453a-932b-b3f59016b041	e849abef-b55e-4124-b760-09101a7c4390	g.chr7:139734050G>A	ENST00000263549.3	-	8	2279	c.1406C>T	c.(1405-1407)aCg>aTg	p.T469M	PARP12_ENST00000470515.1_5'UTR	NM_022750.2	NP_073587.1	Q9H0J9	PAR12_HUMAN	poly (ADP-ribose) polymerase family, member 12	469						nucleus	NAD+ ADP-ribosyltransferase activity|nucleic acid binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	19	Melanoma(164;0.0142)					TTGCATGGTCGTCACATCCTG	0.493													13	21					0	0	1	0	0	A	139734050	G	A	139734050	3	1	60	1	0	0	0	0	1	0	0	0	11504	1145	40	1	719	1	PARP12	7	139734050	Missense_Mutation	SNP	G	TCGA-DH-A669-01A-12D-A31L-08	56614618	139734050	19404613	28	2603											
GIMAP7	168537	broad.mit.edu	37	7	150217736	150217736	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-A669-01A-12D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	425bf16e-aeb2-453a-932b-b3f59016b041	e849abef-b55e-4124-b760-09101a7c4390	g.chr7:150217736C>T	ENST00000313543.4	+	2	831	c.674C>T	c.(673-675)aCt>aTt	p.T225I		NM_153236.3	NP_694968.1	Q8NHV1	GIMA7_HUMAN	GTPase, IMAP family member 7	225							GTP binding			breast(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	17			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AAAATCTACACTGACCAATTA	0.343													37	51					0	0	1	0	0	T	150217736	C	T	150217736	3	4	60	1	0	0	0	0	1	0	0	0	6426	565	20	2	676	2	GIMAP7	7	150217736	Missense_Mutation	SNP	C	TCGA-DH-A669-01A-12D-A31L-08	10483686	150217736	8920927	29	2604											
MRPL15	29088	broad.mit.edu	37	8	55060054	55060054	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DH-A669-01A-12D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	425bf16e-aeb2-453a-932b-b3f59016b041	e849abef-b55e-4124-b760-09101a7c4390	g.chr8:55060054C>G	ENST00000260102.4	+	5	740	c.666C>G	c.(664-666)taC>taG	p.Y222*		NM_014175.3	NP_054894.1	Q9P015	RM15_HUMAN	mitochondrial ribosomal protein L15	222					translation	large ribosomal subunit|mitochondrion	structural constituent of ribosome			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)|skin(3)	10		Lung NSC(129;0.109)|all_epithelial(80;0.134)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;4.3e-07)|Epithelial(17;5.79e-05)|all cancers(17;0.000458)			ACCGTGGGTACCTGGCGGATC	0.433													7	75					0	0	1	0	0	G	55060054	C	G	55060054	4	3	60	1	0	0	0	0	0	1	0	0	9829	518	18	5	684	5	MRPL15	8	55060054	Nonsense_Mutation	SNP	C	TCGA-DH-A669-01A-12D-A31L-08		55060054	91303968	30	2605											
DPY19L4	286148	broad.mit.edu	37	8	95768289	95768289	+	Missense_Mutation	SNP	T	T	G			TCGA-DH-A669-01A-12D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	425bf16e-aeb2-453a-932b-b3f59016b041	e849abef-b55e-4124-b760-09101a7c4390	g.chr8:95768289T>G	ENST00000414645.2	+	7	736	c.637T>G	c.(637-639)Tcc>Gcc	p.S213A		NM_181787.2	NP_861452.2	Q7Z388	D19L4_HUMAN	dpy-19-like 4 (C. elegans)	213						integral to membrane				breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)	21	Breast(36;3.85e-06)					AATTGAATACTCCATTCCTTT	0.313													46	46					0	0	1	0	0	G	95768289	T	G	95768289	3	3	60	1	0	0	0	0	1	0	0	0	4769	1551	54	5	663	5	DPY19L4	8	95768289	Missense_Mutation	SNP	T	TCGA-DH-A669-01A-12D-A31L-08	40708235	95768289	50595733	31	2606											
TG	7038	broad.mit.edu	37	8	134128882	134128882	+	Missense_Mutation	SNP	A	A	G			TCGA-DH-A669-01A-12D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	425bf16e-aeb2-453a-932b-b3f59016b041	e849abef-b55e-4124-b760-09101a7c4390	g.chr8:134128882A>G	ENST00000220616.4	+	45	7824	c.7784A>G	c.(7783-7785)gAc>gGc	p.D2595G	TG_ENST00000377869.1_Missense_Mutation_p.D2538G|TG_ENST00000542445.1_Missense_Mutation_p.D965G|TG_ENST00000519543.1_Missense_Mutation_p.D728G	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	2595					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		CCTATAATCGACATGGCCAGT	0.537													52	59					0	0	1	0	0	G	134128882	A	G	134128882	3	3	60	1	0	0	0	0	1	0	0	0	15873	275	10	3	7962	3	TG	8	134128882	Missense_Mutation	SNP	A	TCGA-DH-A669-01A-12D-A31L-08	38360593	134128882	12235140	32	2607											
NOL6	65083	broad.mit.edu	37	9	33463111	33463111	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-A669-01A-12D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	425bf16e-aeb2-453a-932b-b3f59016b041	e849abef-b55e-4124-b760-09101a7c4390	g.chr9:33463111G>A	ENST00000455041.2	-	24	3114	c.3055C>T	c.(3055-3057)Ctt>Ttt	p.L1019F	NOL6_ENST00000379471.2_Intron|NOL6_ENST00000464829.1_Intron			Q9H6R4	NOL6_HUMAN	nucleolar protein 6 (RNA-associated)	1071					rRNA processing	condensed nuclear chromosome|nucleolus	RNA binding			endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2)	27			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)		TAGAAGAAAAGGGCCAGATCC	0.552													11	19					0	0	1	0	0	A	33463111	G	A	33463111	3	1	60	1	0	0	0	0	1	0	0	0	10572	1000	35	2	237	2	NOL6	9	33463111	Missense_Mutation	SNP	G	TCGA-DH-A669-01A-12D-A31L-08		33463111	107750320	33	2608											
OR51B5	282763	broad.mit.edu	37	11	5364389	5364389	+	Silent	SNP	A	A	T			TCGA-DH-A669-01A-12D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	425bf16e-aeb2-453a-932b-b3f59016b041	e849abef-b55e-4124-b760-09101a7c4390	g.chr11:5364389A>T	ENST00000300773.2	-	1	420	c.366T>A	c.(364-366)atT>atA	p.I122I	HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron	NM_001005567.2	NP_001005567.2	Q9H339	O51B5_HUMAN	olfactory receptor, family 51, subfamily B, member 5	122					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	28		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.05e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGCAGATGGCAATAAAACGGT	0.463													13	57					0	0	1	0	0	T	5364389	A	T	5364389	2	4	60	1	0	0	0	0	0	0	0	1	11139	126	5	5		5	OR51B5	11	5364389	Silent	SNP	A	TCGA-DH-A669-01A-12D-A31L-08		5364389	129642127	34	2609											
CMAS	55907	broad.mit.edu	37	12	22199458	22199458	+	Missense_Mutation	SNP	G	G	C			TCGA-DH-A669-01A-12D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	425bf16e-aeb2-453a-932b-b3f59016b041	e849abef-b55e-4124-b760-09101a7c4390	g.chr12:22199458G>C	ENST00000229329.2	+	1	351	c.221G>C	c.(220-222)tGg>tCg	p.W74S		NM_018686.4	NP_061156.1	Q8NFW8	NEUA_HUMAN	cytidine monophosphate N-acetylneuraminic acid synthetase	74					lipopolysaccharide biosynthetic process	nucleus	N-acylneuraminate cytidylyltransferase activity			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	24						CTCATTGGCTGGGTCCTGCGT	0.692													14	22					0	0	1	0	0	C	22199458	G	C	22199458	3	2	60	1	0	0	0	0	1	0	0	0	3598	1357	47	5	223	5	CMAS	12	22199458	Missense_Mutation	SNP	G	TCGA-DH-A669-01A-12D-A31L-08		22199458	111652437	35	2610											
LRP1	4035	broad.mit.edu	37	12	57572242	57572242	+	Frame_Shift_Del	DEL	G	G	-	rs139915490		TCGA-DH-A669-01A-12D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	425bf16e-aeb2-453a-932b-b3f59016b041	e849abef-b55e-4124-b760-09101a7c4390	g.chr12:57572242delG	ENST00000243077.3	+	27	4928	c.4462delG	c.(4462-4464)gggfs	p.G1489fs		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	1489					aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	GACGCTGTACGGGGGGGAGGT	0.587													8	167	---	---	---	---						-	57572242	G	-	57572242	7	5	60	1	0	1	0	1	0	0	0	0	8996	1116	39	0	4568	0	LRP1	12	57572242	Frame_Shift_Del	DEL	G	TCGA-DH-A669-01A-12D-A31L-08	35372784	57572242	76279653	36	2611											
LGR5	8549	broad.mit.edu	37	12	71974137	71974137	+	Missense_Mutation	SNP	A	A	G			TCGA-DH-A669-01A-12D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	425bf16e-aeb2-453a-932b-b3f59016b041	e849abef-b55e-4124-b760-09101a7c4390	g.chr12:71974137A>G	ENST00000266674.5	+	16	1797	c.1486A>G	c.(1486-1488)Aat>Gat	p.N496D	LGR5_ENST00000540815.2_Missense_Mutation_p.N472D|LGR5_ENST00000536515.1_Missense_Mutation_p.N424D			O75473	LGR5_HUMAN	leucine-rich repeat containing G protein-coupled receptor 5	496						integral to plasma membrane	protein-hormone receptor activity		NUP107/LGR5(2)	endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						TAATCAATGGAATAAAGGTGA	0.393													31	205					0	0	1	0	0	G	71974137	A	G	71974137	3	3	60	1	0	0	0	0	1	0	0	0	8797	246	9	3	1548	3	LGR5	12	71974137	Missense_Mutation	SNP	A	TCGA-DH-A669-01A-12D-A31L-08	14401895	71974137	61877758	37	2612											
COQ5	84274	broad.mit.edu	37	12	120966794	120966794	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-A669-01A-12D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	425bf16e-aeb2-453a-932b-b3f59016b041	e849abef-b55e-4124-b760-09101a7c4390	g.chr12:120966794C>T	ENST00000288532.6	-	1	191	c.151G>A	c.(151-153)Gaa>Aaa	p.E51K	COQ5_ENST00000445328.2_Missense_Mutation_p.E51K	NM_032314.3	NP_115690.3	Q5HYK3	COQ5_HUMAN	coenzyme Q5 homolog, methyltransferase (S. cerevisiae)	51					ubiquinone biosynthetic process	mitochondrion	methyltransferase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(1)|prostate(1)|urinary_tract(3)	20	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					AAGTGCGTTTCCGCTGCCCGC	0.632													29	175					0	0	1	0	0	T	120966794	C	T	120966794	3	4	60	1	0	0	0	0	1	0	0	0	3771	864	30	2	860	2	COQ5	12	120966794	Missense_Mutation	SNP	C	TCGA-DH-A669-01A-12D-A31L-08	48992657	120966794	12885101	38	2613											
RNF34	80196	broad.mit.edu	37	12	121867855	121867855	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-A669-01A-12D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	425bf16e-aeb2-453a-932b-b3f59016b041	e849abef-b55e-4124-b760-09101a7c4390	g.chr12:121867855G>A	ENST00000392464.2	+	7	1151	c.1082G>A	c.(1081-1083)cGc>cAc	p.R361H	KDM2B_ENST00000542973.1_3'UTR|KDM2B_ENST00000377069.4_3'UTR|KDM2B_ENST00000536437.1_3'UTR|KDM2B_ENST00000377071.4_3'UTR			Q969K3	RNF34_HUMAN	ring finger protein 34, E3 ubiquitin protein ligase	15					apoptosis	endomembrane system|membrane|nuclear speck	ligase activity|zinc ion binding			breast(1)|large_intestine(1)	2	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000432)|Epithelial(86;0.00233)		TGTAAAGGCCGCCTTAGAAAT	0.483													8	61					0	0	1	0	0	A	121867855	G	A	121867855	3	1	60	1	0	0	0	0	1	0	0	0	13541	1102	38	1		1	RNF34	12	121867855	Missense_Mutation	SNP	G	TCGA-DH-A669-01A-12D-A31L-08	901061	121867855	11984040	39	2614											
RB1	5925	broad.mit.edu	37	13	48936948	48936966	+	Splice_Site	DEL	CAGAAACAGCTGTTATACC	CAGAAACAGCTGTTATACC	-	rs147754935	byFrequency	TCGA-DH-A669-01A-12D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	425bf16e-aeb2-453a-932b-b3f59016b041	e849abef-b55e-4124-b760-09101a7c4390	g.chr13:48936948_48936966delCAGAAACAGCTGTTATACC	ENST00000267163.4	+	8	856_872	c.718_734delCAGAAACAGCTGTTATACC	c.(718-735)cagaaacagctgttatac>c	p.QKQLLY240fs		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	240					androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.0?(15)|p.?(6)|p.K240_A242>T(1)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	ACCACTTTTACAGAAACAGCTGTTATACCCATTAATGGT	0.338		6	"D, Mis, N, F, S"		"retinoblastoma, sarcoma, breast, small cell lung"	"retinoblastoma, sarcoma, breast, small cell lung"			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			11	7	---	---	---	---						-	48936966	CAGAAACAGCTGTTATACC	-	48936948	8	5	60	1	0	1	0	1	0	0	1	0	13150	493	17	0		0	RB1	13	48936948	Splice_Site	DEL	CAGAAACAGCTGTTATACC	TCGA-DH-A669-01A-12D-A31L-08		48936948	66232930	40	2615											
FLRT2	23768	broad.mit.edu	37	14	86088048	86088048	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-A669-01A-12D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	425bf16e-aeb2-453a-932b-b3f59016b041	e849abef-b55e-4124-b760-09101a7c4390	g.chr14:86088048G>A	ENST00000330753.4	+	2	957	c.190G>A	c.(190-192)Ggc>Agc	p.G64S	FLRT2_ENST00000554746.1_Missense_Mutation_p.G64S	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	64					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		GATCCCGGAGGGCGTAACTGT	0.517													81	90					0	0	1	0	0	A	86088048	G	A	86088048	3	1	60	1	0	0	0	0	1	0	0	0	5972	1232	43	2	192	2	FLRT2	14	86088048	Missense_Mutation	SNP	G	TCGA-DH-A669-01A-12D-A31L-08		86088048	21261492	41	2616											
RAB27A	5873	broad.mit.edu	37	15	55497845	55497845	+	Missense_Mutation	SNP	T	T	A			TCGA-DH-A669-01A-12D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	425bf16e-aeb2-453a-932b-b3f59016b041	e849abef-b55e-4124-b760-09101a7c4390	g.chr15:55497845T>A	ENST00000396307.2	-	6	777	c.526A>T	c.(526-528)Atg>Ttg	p.M176L	RAB27A_ENST00000564609.1_Missense_Mutation_p.M176L|RAB27A_ENST00000336787.1_Missense_Mutation_p.M176L|RAB27A_ENST00000569493.1_Missense_Mutation_p.M176L	NM_004580.4	NP_004571.2	P51159	RB27A_HUMAN	RAB27A, member RAS oncogene family	176					small GTPase mediated signal transduction	dendrite|exocytic vesicle|late endosome|lysosome|melanosome	GTP binding|GTPase activity			endometrium(1)|large_intestine(2)|liver(1)|lung(3)|ovary(1)|skin(1)	9				all cancers(107;0.0273)|GBM - Glioblastoma multiforme(80;0.0993)		TCCAGAAGCATCTCAATTGCT	0.473													59	46					0	0	1	0	0	A	55497845	T	A	55497845	3	1	60	1	0	0	0	0	1	0	0	0	12966	1435	50	4	143	4	RAB27A	15	55497845	Missense_Mutation	SNP	T	TCGA-DH-A669-01A-12D-A31L-08		55497845	47033547	42	2617											
RHBDF1	64285	broad.mit.edu	37	16	109807	109807	+	Silent	SNP	G	G	A			TCGA-DH-A669-01A-12D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	425bf16e-aeb2-453a-932b-b3f59016b041	e849abef-b55e-4124-b760-09101a7c4390	g.chr16:109807G>A	ENST00000262316.6	-	14	1882	c.1740C>T	c.(1738-1740)agC>agT	p.S580S		NM_022450.3	NP_071895.3	Q96CC6	RHDF1_HUMAN	rhomboid 5 homolog 1 (Drosophila)	580					cell migration|cell proliferation|negative regulation of protein secretion|protein transport|proteolysis|regulation of epidermal growth factor receptor signaling pathway|regulation of proteasomal protein catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	growth factor binding|serine-type endopeptidase activity	p.S580S(1)		breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	18		all_cancers(16;2.56e-05)|all_epithelial(16;0.000116)|Hepatocellular(780;0.0068)|Lung NSC(18;0.0795)|all_lung(18;0.159)				GGTTCCCAGCGCTGTTTTTGG	0.592													21	23					0	0	1	0	0	A	109807	G	A	109807	2	1	60	1	0	0	0	0	0	0	0	1	13369	1078	38	1		1	RHBDF1	16	109807	Silent	SNP	G	TCGA-DH-A669-01A-12D-A31L-08		109807	90244946	43	2618											
ERN2	10595	broad.mit.edu	37	16	23716446	23716446	+	Silent	SNP	G	G	A			TCGA-DH-A669-01A-12D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	425bf16e-aeb2-453a-932b-b3f59016b041	e849abef-b55e-4124-b760-09101a7c4390	g.chr16:23716446G>A	ENST00000256797.4	-	8	924	c.756C>T	c.(754-756)tgC>tgT	p.C252C	ERN2_ENST00000457008.2_Silent_p.C204C	NM_033266.3	NP_150296.3	Q76MJ5	ERN2_HUMAN	endoplasmic reticulum to nucleus signaling 2	204					apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity			large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		GGCCCATCCCGCAGGACGCCA	0.647													10	36					0	0	1	0	0	A	23716446	G	A	23716446	2	1	60	1	0	0	0	0	0	0	0	1	5266	1079	38	1		1	ERN2	16	23716446	Silent	SNP	G	TCGA-DH-A669-01A-12D-A31L-08	23606639	23716446	66638307	44	2619											
ABCC11	85320	broad.mit.edu	37	16	48210912	48210912	+	Missense_Mutation	SNP	G	G	T			TCGA-DH-A669-01A-12D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	425bf16e-aeb2-453a-932b-b3f59016b041	e849abef-b55e-4124-b760-09101a7c4390	g.chr16:48210912G>T	ENST00000394747.1	-	24	3810	c.3461C>A	c.(3460-3462)aCa>aAa	p.T1154K	ABCC11_ENST00000394748.1_Missense_Mutation_p.T1154K|ABCC11_ENST00000356608.2_Missense_Mutation_p.T1154K|ABCC11_ENST00000565329.1_5'UTR|ABCC11_ENST00000353782.5_Missense_Mutation_p.T1154K	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	1154	ABC transporter 2.					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)				CACGGTGGGTGTGTTGTCTCT	0.557													17	17					5.03518e-11	5.10323e-11	1	1	0	T	48210912	G	T	48210912	3	4	60	1	0	0	0	0	1	0	0	0	51	1377	48	5	711	5	ABCC11	16	48210912	Missense_Mutation	SNP	G	TCGA-DH-A669-01A-12D-A31L-08	24494466	48210912	42143841	45	2620											
DDX19A	55308	broad.mit.edu	37	16	70400656	70400656	+	Silent	SNP	T	T	C	rs142443034	byFrequency	TCGA-DH-A669-01A-12D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	425bf16e-aeb2-453a-932b-b3f59016b041	e849abef-b55e-4124-b760-09101a7c4390	g.chr16:70400656T>C	ENST00000302243.7	+	9	1075	c.912T>C	c.(910-912)gaT>gaC	p.D304D	DDX19A_ENST00000417604.2_Silent_p.D273D|DDX19A_ENST00000443119.2_Silent_p.D214D	NM_018332.3	NP_060802.1			DEAD (Asp-Glu-Ala-Asp) box polypeptide 19A											breast(1)|endometrium(1)|large_intestine(5)|lung(3)|urinary_tract(1)	11		Ovarian(137;0.221)				AGACCCTGGATACCATCAAGC	0.502													29	115					0	0	1	0	0	C	70400656	T	C	70400656	2	2	60	1	0	0	0	0	0	0	0	1	4369	1403	49	3		3	DDX19A	16	70400656	Silent	SNP	T	TCGA-DH-A669-01A-12D-A31L-08	22189744	70400656	19954097	46	2621											
SYNRG	11276	broad.mit.edu	37	17	35902074	35902074	+	Splice_Site	SNP	C	C	T			TCGA-DH-A669-01A-12D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	425bf16e-aeb2-453a-932b-b3f59016b041	e849abef-b55e-4124-b760-09101a7c4390	g.chr17:35902074C>T	ENST00000339208.6	-	15	3342	c.3202G>A	c.(3202-3204)Gga>Aga	p.G1068R	SYNRG_ENST00000345615.4_Splice_Site_p.G990R|SYNRG_ENST00000585472.1_Splice_Site_p.G989R|SYNRG_ENST00000346661.4_Splice_Site_p.G1068R|SYNRG_ENST00000591288.1_Splice_Site_p.G862R|SYNRG_ENST00000502449.2_Splice_Site_p.G945R|SYNRG_ENST00000394378.2_Splice_Site_p.G990R	NM_001163544.1|NM_001163545.1|NM_007247.4	NP_001157016.1|NP_001157017.1|NP_009178.3	Q9UMZ2	SYNRG_HUMAN	synergin, gamma	1068					endocytosis|intracellular protein transport	AP-1 adaptor complex	calcium ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						AGCTACTCACCTTGAACAGAA	0.373													56	78					0	0	1	0	0	T	35902074	C	T	35902074	5	4	60	1	0	0	0	0	0	0	1	0	15517	695	24	2	847	2	SYNRG	17	35902074	Splice_Site	SNP	C	TCGA-DH-A669-01A-12D-A31L-08		35902074	45293136	47	2622											
CD300LF	146722	broad.mit.edu	37	17	72700686	72700686	+	Missense_Mutation	SNP	T	T	C			TCGA-DH-A669-01A-12D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	425bf16e-aeb2-453a-932b-b3f59016b041	e849abef-b55e-4124-b760-09101a7c4390	g.chr17:72700686T>C	ENST00000469092.1	-	3	598	c.322A>G	c.(322-324)Act>Gct	p.T108A	CD300LF_ENST00000581500.1_Missense_Mutation_p.T108A|RAB37_ENST00000402449.4_Intron|CD300LF_ENST00000326165.6_Missense_Mutation_p.T105A|CD300LF_ENST00000301573.9_Missense_Mutation_p.T105A|CD300LF_ENST00000361254.4_Missense_Mutation_p.T108A|RAB37_ENST00000340415.3_Intron|CD300LF_ENST00000464910.1_Missense_Mutation_p.T108A|CD300LF_ENST00000583937.1_Missense_Mutation_p.T105A|CD300LF_ENST00000343125.4_Missense_Mutation_p.T108A			Q8TDQ1	CLM1_HUMAN	CD300 molecule-like family member f	105	Ig-like V-type.					integral to membrane|plasma membrane	receptor activity			endometrium(2)|large_intestine(1)|lung(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						CACCAGTAAGTGTCAGCATCA	0.478													86	120					0	0	1	0	0	C	72700686	T	C	72700686	3	2	60	1	0	0	0	0	1	0	0	0	3023	1696	59	3	583	3	CD300LF	17	72700686	Missense_Mutation	SNP	T	TCGA-DH-A669-01A-12D-A31L-08	36798612	72700686	8494524	48	2623											
L3MBTL4	91133	broad.mit.edu	37	18	6241395	6241395	+	Missense_Mutation	SNP	G	G	T			TCGA-DH-A669-01A-12D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	425bf16e-aeb2-453a-932b-b3f59016b041	e849abef-b55e-4124-b760-09101a7c4390	g.chr18:6241395G>T	ENST00000400104.3	-	8	714	c.514C>A	c.(514-516)Caa>Aaa	p.Q172K	L3MBTL4_ENST00000535782.1_5'UTR|L3MBTL4_ENST00000284898.6_Missense_Mutation_p.Q172K|L3MBTL4_ENST00000400105.2_Missense_Mutation_p.Q172K|L3MBTL4_ENST00000317931.7_Missense_Mutation_p.Q172K			Q8NA19	LMBL4_HUMAN	l(3)mbt-like 4 (Drosophila)	172					chromatin modification	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		Colorectal(10;0.0249)				GGAGCATTTTGCAATTTGCAG	0.308													76	10					2.65773e-34	2.76847e-34	1	1	0	T	6241395	G	T	6241395	3	4	60	1	0	0	0	0	1	0	0	0	8633	1328	46	5	1409	5	L3MBTL4	18	6241395	Missense_Mutation	SNP	G	TCGA-DH-A669-01A-12D-A31L-08		6241395	71835853	49	2624											
HAUS1	115106	broad.mit.edu	37	18	43685266	43685266	+	Missense_Mutation	SNP	T	T	G			TCGA-DH-A669-01A-12D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	425bf16e-aeb2-453a-932b-b3f59016b041	e849abef-b55e-4124-b760-09101a7c4390	g.chr18:43685266T>G	ENST00000282058.6	+	2	217	c.137T>G	c.(136-138)gTc>gGc	p.V46G	HAUS1_ENST00000585518.1_Missense_Mutation_p.V46G	NM_138443.3	NP_612452.1	Q96CS2	HAUS1_HUMAN	HAUS augmin-like complex, subunit 1	46					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle pole				endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	7						CGCAACAGGGTCCGGGACAGG	0.438													25	5					0	0	1	0	0	G	43685266	T	G	43685266	3	3	60	1	0	0	0	0	1	0	0	0	7006	1667	58	5	143	5	HAUS1	18	43685266	Missense_Mutation	SNP	T	TCGA-DH-A669-01A-12D-A31L-08	37443871	43685266	34391982	50	2625											
ABCA7	10347	broad.mit.edu	37	19	1056090	1056090	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DH-A669-01A-12D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	425bf16e-aeb2-453a-932b-b3f59016b041	e849abef-b55e-4124-b760-09101a7c4390	g.chr19:1056090C>T	ENST00000263094.6	+	32	4495	c.4264C>T	c.(4264-4266)Cga>Tga	p.R1422*	ABCA7_ENST00000433129.1_Nonsense_Mutation_p.R1422*|ABCA7_ENST00000435683.2_Nonsense_Mutation_p.R1284*	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	1422					phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity			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)		GCTGGGGGGCCGAGACCCAGG	0.726													36	46					0	0	1	0	0	T	1056090	C	T	1056090	4	4	60	1	0	0	0	0	0	1	0	0	37	644	23	1	4386	1	ABCA7	19	1056090	Nonsense_Mutation	SNP	C	TCGA-DH-A669-01A-12D-A31L-08		1056090	58072893	51	2626											
YIPF2	78992	broad.mit.edu	37	19	11038362	11038364	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-DH-A669-01A-12D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	425bf16e-aeb2-453a-932b-b3f59016b041	e849abef-b55e-4124-b760-09101a7c4390	g.chr19:11038362_11038364delGCT	ENST00000586748.1	-	4	393_395	c.221_223delAGC	c.(220-225)cagccg>ccg	p.Q74del	YIPF2_ENST00000590329.1_In_Frame_Del_p.Q74del|YIPF2_ENST00000253031.2_In_Frame_Del_p.Q74del			Q9BWQ6	YIPF2_HUMAN	Yip1 domain family, member 2	74						integral to membrane|transport vesicle				cervix(1)|endometrium(1)|lung(3)|ovary(2)	7						CAGAATCCCGgctgctgctgctg	0.621													8	132	---	---	---	---						-	11038364	GCT	-	11038362	7	5	60	1	0	1	0	1	0	0	0	0	17538	1203	42	0	751	0	YIPF2	19	11038362	In_Frame_Del	DEL	GCT	TCGA-DH-A669-01A-12D-A31L-08	9982272	11038362	48090621	52	2627											
ZNF780B	163131	broad.mit.edu	37	19	40541052	40541052	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DH-A669-01A-12D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	425bf16e-aeb2-453a-932b-b3f59016b041	e849abef-b55e-4124-b760-09101a7c4390	g.chr19:40541052delG	ENST00000434248.1	-	5	1779	c.1714delC	c.(1714-1716)cttfs	p.L572fs	ZNF780B_ENST00000221355.6_Frame_Shift_Del_p.L424fs	NM_001005851.2	NP_001005851.1	Q9Y6R6	Z780B_HUMAN	zinc finger protein 780B	572					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					TGTTGATTAAGATTTGAACCA	0.383													10	94	---	---	---	---						-	40541052	G	-	40541052	7	5	60	1	0	1	0	1	0	0	0	0	18202	942	33	0	791	0	ZNF780B	19	40541052	Frame_Shift_Del	DEL	G	TCGA-DH-A669-01A-12D-A31L-08	29502690	40541052	18587931	53	2628											
LILRB1	10859	broad.mit.edu	37	19	55143565	55143565	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-A669-01A-12D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	425bf16e-aeb2-453a-932b-b3f59016b041	e849abef-b55e-4124-b760-09101a7c4390	g.chr19:55143565G>A	ENST00000396331.1	+	6	895	c.538G>A	c.(538-540)Gcc>Acc	p.A180T	LILRB1_ENST00000324602.7_Missense_Mutation_p.A180T|LILRB1_ENST00000396321.2_Missense_Mutation_p.A180T|LILRB1_ENST00000396315.1_Missense_Mutation_p.A180T|LILRB1_ENST00000396317.1_Missense_Mutation_p.A180T|LILRB1_ENST00000396327.3_Missense_Mutation_p.A180T|LILRB1_ENST00000427581.2_Missense_Mutation_p.A216T|LILRB1_ENST00000434867.2_Missense_Mutation_p.A180T|LILRB1_ENST00000448689.1_Missense_Mutation_p.A180T|LILRB1_ENST00000396332.4_Missense_Mutation_p.A180T|LILRB1_ENST00000418536.2_Missense_Mutation_p.A180T	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	180	Ig-like C2-type 2.				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		GTCGTCCCGCGCCATCTTCTC	0.577										HNSCC(37;0.09)			86	21					0	0	1	0	0	A	55143565	G	A	55143565	3	1	60	1	0	0	0	0	1	0	0	0	8830	1087	38	1	552	1	LILRB1	19	55143565	Missense_Mutation	SNP	G	TCGA-DH-A669-01A-12D-A31L-08	14602513	55143565	3985418	54	2629											
C20orf112	140688	broad.mit.edu	37	20	31035488	31035488	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-A669-01A-12D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	425bf16e-aeb2-453a-932b-b3f59016b041	e849abef-b55e-4124-b760-09101a7c4390	g.chr20:31035488G>A	ENST00000359676.5	-	8	1364	c.1222C>T	c.(1222-1224)Cgg>Tgg	p.R408W		NM_001256798.1|NM_080616.4	NP_001243727.1|NP_542183.2	Q96MY1	CT112_HUMAN	chromosome 20 open reading frame 112	408										endometrium(3)|kidney(2)|large_intestine(5)|lung(5)	15						ATGAGCTGCCGCACGGCGCTG	0.667													40	45					0	0	1	0	0	A	31035488	G	A	31035488	3	1	60	1	0	0	0	0	1	0	0	0	2095	1086	38	1	92	1	C20orf112	20	31035488	Missense_Mutation	SNP	G	TCGA-DH-A669-01A-12D-A31L-08		31035488	31990032	55	2630	9	2									
C20orf112	140688	broad.mit.edu	37	20	31035489	31035489	+	Silent	SNP	C	C	T			TCGA-DH-A669-01A-12D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	425bf16e-aeb2-453a-932b-b3f59016b041	e849abef-b55e-4124-b760-09101a7c4390	g.chr20:31035489C>T	ENST00000359676.5	-	8	1363	c.1221G>A	c.(1219-1221)gtG>gtA	p.V407V		NM_001256798.1|NM_080616.4	NP_001243727.1|NP_542183.2	Q96MY1	CT112_HUMAN	chromosome 20 open reading frame 112	407										endometrium(3)|kidney(2)|large_intestine(5)|lung(5)	15						TGAGCTGCCGCACGGCGCTGA	0.672													40	45					0	0	1	0	0	T	31035489	C	T	31035489	2	4	60	1	0	0	0	0	0	0	0	1	2095	697	25	2		2	C20orf112	20	31035489	Silent	SNP	C	TCGA-DH-A669-01A-12D-A31L-08	1	31035489	31990031	56	2631	9	2									
SLC2A4RG	56731	broad.mit.edu	37	20	62372750	62372750	+	Silent	SNP	C	C	T			TCGA-DH-A669-01A-12D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	425bf16e-aeb2-453a-932b-b3f59016b041	e849abef-b55e-4124-b760-09101a7c4390	g.chr20:62372750C>T	ENST00000266077.2	+	3	361	c.309C>T	c.(307-309)gaC>gaT	p.D103D	SLC2A4RG_ENST00000493772.1_3'UTR	NM_020062.3	NP_064446.2	Q9NR83	S2A4R_HUMAN	SLC2A4 regulator	103						cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|kidney(1)|lung(2)|prostate(2)|skin(1)	7	all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09)					CCCGGCTGGACGAGGTCATGG	0.677													8	99					0	0	1	0	0	T	62372750	C	T	62372750	2	4	60	1	0	0	0	0	0	0	0	1	14602	535	19	1		1	SLC2A4RG	20	62372750	Silent	SNP	C	TCGA-DH-A669-01A-12D-A31L-08	31337261	62372750	652770	57	2632											
DYRK1A	1859	broad.mit.edu	37	21	38884668	38884668	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-A669-01A-12D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	425bf16e-aeb2-453a-932b-b3f59016b041	e849abef-b55e-4124-b760-09101a7c4390	g.chr21:38884668G>A	ENST00000339659.4	+	11	3569	c.2099G>A	c.(2098-2100)cGc>cAc	p.R700H	DYRK1A_ENST00000455387.2_Missense_Mutation_p.R481H|DYRK1A_ENST00000338785.3_3'UTR|DYRK1A_ENST00000398960.2_Missense_Mutation_p.R709H	NM_130436.2	NP_569120.1	Q13627	DYR1A_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A						nervous system development|peptidyl-tyrosine phosphorylation|protein autophosphorylation	nuclear speck	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding|protein self-association|protein serine/threonine kinase activity			breast(4)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						TCCAATCCCCGCCAAGAGACT	0.488													28	53					0	0	1	0	0	A	38884668	G	A	38884668	3	1	60	1	0	0	0	0	1	0	0	0	4880	1087	38	1	2252	1	DYRK1A	21	38884668	Missense_Mutation	SNP	G	TCGA-DH-A669-01A-12D-A31L-08		38884668	9245227	58	2633											
EIF4G3	8672	broad.mit.edu	37	1	21183987	21183987	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr1:21183987delA	ENST00000602326.1	-	23	3681	c.3098delT	c.(3097-3099)gtcfs	p.V1033fs	EIF4G3_ENST00000264211.8_Frame_Shift_Del_p.V1027fs|EIF4G3_ENST00000374935.3_Frame_Shift_Del_p.V747fs|EIF4G3_ENST00000537738.1_Frame_Shift_Del_p.V517fs|EIF4G3_ENST00000536266.1_Frame_Shift_Del_p.V631fs|EIF4G3_ENST00000374937.3_Frame_Shift_Del_p.V1033fs|EIF4G3_ENST00000400422.1_Frame_Shift_Del_p.V1027fs	NM_001198802.1	NP_001185731.1	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	1027					interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|RNA cap binding|translation initiation factor activity			endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		CACTCTCTGGACACCTGCAGG	0.463													51	225	---	---	---	---						-	21183987	A	-	21183987	7	5	61	1	0	1	0	1	0	0	0	0	5066	275	10	0	1729	0	EIF4G3	1	21183987	Frame_Shift_Del	DEL	A	TCGA-DH-A66B-01A-11D-A29Q-08		21183987	228066634	1	2634											
ZNF644	84146	broad.mit.edu	37	1	91405999	91405999	+	Silent	SNP	G	G	T	rs144274015	byFrequency	TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr1:91405999G>T	ENST00000370440.1	-	3	1129	c.912C>A	c.(910-912)acC>acA	p.T304T	ZNF644_ENST00000347275.5_Intron|ZNF644_ENST00000467231.1_Intron|ZNF644_ENST00000361321.5_Intron|ZNF644_ENST00000337393.5_Silent_p.T304T			Q9H582	ZN644_HUMAN	zinc finger protein 644	304					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	47		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		AGCAATCCTCGGTATAACGAG	0.343													9	28					2.17888e-05	2.2124e-05	1	1	0	T	91405999	G	T	91405999	2	4	61	1	0	0	0	0	0	0	0	1	18117	1103	39	5		5	ZNF644	1	91405999	Silent	SNP	G	TCGA-DH-A66B-01A-11D-A29Q-08	70222012	91405999	157844622	2	2635											
INSRR	3645	broad.mit.edu	37	1	156815851	156815851	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr1:156815851C>T	ENST00000368195.3	-	9	2267	c.1871G>A	c.(1870-1872)cGc>cAc	p.R624H	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	624	Fibronectin type-III 2.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					TGGCTTCCAGCGCACCAGGAG	0.622													16	69					0	0	1	0	0	T	156815851	C	T	156815851	3	4	61	1	0	0	0	0	1	0	0	0	7818	768	27	1	2077	1	INSRR	1	156815851	Missense_Mutation	SNP	C	TCGA-DH-A66B-01A-11D-A29Q-08	65409852	156815851	92434770	3	2636											
FCRL2	79368	broad.mit.edu	37	1	157738222	157738222	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr1:157738222C>T	ENST00000361516.3	-	5	913	c.865G>A	c.(865-867)Gtg>Atg	p.V289M	FCRL2_ENST00000368181.4_Intron|FCRL2_ENST00000392274.3_Missense_Mutation_p.V289M	NM_030764.3	NP_110391.2	Q96LA5	FCRL2_HUMAN	Fc receptor-like 2	289	Ig-like C2-type 3.				cell-cell signaling	integral to membrane|plasma membrane|soluble fraction	receptor activity|SH3/SH2 adaptor activity			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|skin(2)	51	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			GGGATATTCACCACCTTGCTC	0.478													19	95					0	0	1	0	0	T	157738222	C	T	157738222	3	4	61	1	0	0	0	0	1	0	0	0	5828	507	18	2	693	2	FCRL2	1	157738222	Missense_Mutation	SNP	C	TCGA-DH-A66B-01A-11D-A29Q-08	922371	157738222	91512399	4	2637											
ABL2	27	broad.mit.edu	37	1	179084144	179084144	+	Missense_Mutation	SNP	T	T	A			TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr1:179084144T>A	ENST00000502732.1	-	9	1633	c.1430A>T	c.(1429-1431)gAa>gTa	p.E477V	ABL2_ENST00000344730.3_Missense_Mutation_p.E462V|ABL2_ENST00000408940.3_Missense_Mutation_p.E441V|ABL2_ENST00000504405.1_Missense_Mutation_p.E441V|ABL2_ENST00000507173.1_Missense_Mutation_p.E456V|ABL2_ENST00000512653.1_Missense_Mutation_p.E462V|ABL2_ENST00000392043.3_Missense_Mutation_p.E456V|ABL2_ENST00000511413.1_Missense_Mutation_p.E477V|ABL2_ENST00000367623.4_Missense_Mutation_p.E456V	NM_001168236.1|NM_001168237.1|NM_001168238.1|NM_007314.3	NP_001161708.1|NP_001161709.1|NP_001161710.1|NP_009298.1	P42684	ABL2_HUMAN	c-abl oncogene 2, non-receptor tyrosine kinase	477	Protein kinase.				axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction	cytoskeleton|cytosol	ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	65					Adenosine triphosphate(DB00171)|Dasatinib(DB01254)	GGTAGCAATTTCCCACAACAA	0.378			T	ETV6	AML								18	96					0	0	1	0	0	A	179084144	T	A	179084144	3	1	61	1	0	0	0	0	1	0	0	0	93	1783	62	5	2179	5	ABL2	1	179084144	Missense_Mutation	SNP	T	TCGA-DH-A66B-01A-11D-A29Q-08	21345922	179084144	70166477	5	2638											
SLC26A9	115019	broad.mit.edu	37	1	205896383	205896383	+	Missense_Mutation	SNP	T	T	G			TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr1:205896383T>G	ENST00000367135.3	-	11	1362	c.1249A>C	c.(1249-1251)Atc>Ctc	p.I417L	SLC26A9_ENST00000340781.4_Missense_Mutation_p.I417L|SLC26A9_ENST00000367134.2_Missense_Mutation_p.I417L	NM_052934.3	NP_443166.1	Q7LBE3	S26A9_HUMAN	solute carrier family 26 (anion exchanger), member 9	417						integral to membrane	chloride channel activity|secondary active sulfate transmembrane transporter activity			NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5)	52	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0458)			AGCATGGTGATCATCACCACC	0.483													5	139					0	0	1	0	0	G	205896383	T	G	205896383	3	3	61	1	0	0	0	0	1	0	0	0	14579	1435	50	4	1466	4	SLC26A9	1	205896383	Missense_Mutation	SNP	T	TCGA-DH-A66B-01A-11D-A29Q-08	26812239	205896383	43354238	6	2639											
RD3	343035	broad.mit.edu	37	1	211652456	211652456	+	Silent	SNP	G	G	A			TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr1:211652456G>A	ENST00000367002.4	-	3	1673	c.510C>T	c.(508-510)tcC>tcT	p.S170S	RD3_ENST00000484910.1_5'UTR	NM_001164688.1|NM_183059.2	NP_001158160.1|NP_898882.1	Q7Z3Z2	RD3_HUMAN	retinal degeneration 3	170					response to stimulus|visual perception					central_nervous_system(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	10				OV - Ovarian serous cystadenocarcinoma(81;0.00284)|all cancers(67;0.0279)|Epithelial(68;0.0689)		CCACGTCCTCGGAGATGGTCC	0.716													6	26					0	0	1	0	0	A	211652456	G	A	211652456	2	1	61	1	0	0	0	0	0	0	0	1	13239	1103	39	1		1	RD3	1	211652456	Silent	SNP	G	TCGA-DH-A66B-01A-11D-A29Q-08	5756073	211652456	37598165	7	2640											
CHRM3	1131	broad.mit.edu	37	1	240071128	240071128	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr1:240071128C>T	ENST00000255380.4	+	5	1156	c.377C>T	c.(376-378)aCg>aTg	p.T126M		NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	126					cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity	p.T126M(1)		breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)	AATCTGTTTACGACCTACATC	0.468													20	37					0	0	1	0	0	T	240071128	C	T	240071128	3	4	61	1	0	0	0	0	1	0	0	0	3400	536	19	1	379	1	CHRM3	1	240071128	Missense_Mutation	SNP	C	TCGA-DH-A66B-01A-11D-A29Q-08	28418672	240071128	9179493	8	2641											
NLRC4	58484	broad.mit.edu	37	2	32449596	32449596	+	Silent	SNP	A	A	G			TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr2:32449596A>G	ENST00000404025.2	-	10	3509	c.3021T>C	c.(3019-3021)ttT>ttC	p.F1007F	NLRC4_ENST00000360906.5_Silent_p.F1007F|NLRC4_ENST00000402280.1_Silent_p.F1007F|NLRC4_ENST00000342905.6_Silent_p.F342F			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	1007					activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					CATCATCATCAAATTGCCACC	0.378													45	65					0	0	1	0	0	G	32449596	A	G	32449596	2	3	61	1	0	0	0	0	0	0	0	1	10516	127	5	3		3	NLRC4	2	32449596	Silent	SNP	A	TCGA-DH-A66B-01A-11D-A29Q-08		32449596	210749777	9	2642											
IFIH1	64135	broad.mit.edu	37	2	163133214	163133214	+	Missense_Mutation	SNP	A	A	C			TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr2:163133214A>C	ENST00000263642.2	-	11	2682	c.2287T>G	c.(2287-2289)Ttc>Gtc	p.F763V		NM_022168.3	NP_071451.2	Q9BYX4	IFIH1_HUMAN	interferon induced with helicase C domain 1	763	Helicase C-terminal.				detection of virus|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|regulation of apoptosis	cytosol|nucleus	ATP binding|DNA binding|double-stranded RNA binding|helicase activity|protein binding|ribonucleoprotein binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	39						ATGGGTTTGAACTCACTGCTG	0.398													12	62					0	0	1	0	0	C	163133214	A	C	163133214	3	2	61	1	0	0	0	0	1	0	0	0	7564	43	2	5	814	5	IFIH1	2	163133214	Missense_Mutation	SNP	A	TCGA-DH-A66B-01A-11D-A29Q-08	130683618	163133214	80066159	10	2643											
ATF2	1386	broad.mit.edu	37	2	175957831	175957833	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr2:175957831_175957833delCTC	ENST00000264110.2	-	12	1439_1441	c.1141_1143delGAG	c.(1141-1143)gagdel	p.E381del	ATF2_ENST00000409437.1_In_Frame_Del_p.E265del|ATF2_ENST00000345739.5_In_Frame_Del_p.E323del|ATF2_ENST00000538946.1_In_Frame_Del_p.E363del|ATF2_ENST00000426833.3_In_Frame_Del_p.E363del|ATF2_ENST00000409499.1_Intron|ATF2_ENST00000487334.2_3'UTR|ATF2_ENST00000392544.1_In_Frame_Del_p.E381del|ATF2_ENST00000409635.1_In_Frame_Del_p.E323del|ATF2_ENST00000392543.2_Intron	NM_001256090.1|NM_001256091.1|NM_001880.3	NP_001243019.1|NP_001243020.1|NP_001871.2	P15336	ATF2_HUMAN	activating transcription factor 2	381	Leucine-zipper.				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	nucleoplasm	protein dimerization activity|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|pancreas(1)|skin(1)	17			OV - Ovarian serous cystadenocarcinoma(117;0.125)			CAGCTTTCTTCTCTAAAGACTGA	0.35													38	95	---	---	---	---						-	175957833	CTC	-	175957831	7	5	61	1	0	1	0	1	0	0	0	0	1079	912	32	0	386	0	ATF2	2	175957831	In_Frame_Del	DEL	CTC	TCGA-DH-A66B-01A-11D-A29Q-08	12824617	175957831	67241542	11	2644											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	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	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								22	22					0	0	1	0	0	T	209113112	C	T	209113112	3	4	61	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-DH-A66B-01A-11D-A29Q-08	33155281	209113112	34086261	12	2645											
CCDC13	152206	broad.mit.edu	37	3	42750573	42750573	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr3:42750573G>A	ENST00000310232.6	-	16	2130	c.2047C>T	c.(2047-2049)Cgg>Tgg	p.R683W		NM_144719.3	NP_653320.3	Q8IYE1	CCD13_HUMAN	coiled-coil domain containing 13	683										endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	25						TCCTTTCCCCGCAGGGCACTG	0.592													20	76					0	0	1	0	0	A	42750573	G	A	42750573	3	1	61	1	0	0	0	0	1	0	0	0	2783	1086	38	1	104	1	CCDC13	3	42750573	Missense_Mutation	SNP	G	TCGA-DH-A66B-01A-11D-A29Q-08		42750573	155271857	13	2646											
TRAIP	10293	broad.mit.edu	37	3	49867117	49867117	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr3:49867117C>T	ENST00000331456.2	-	13	1282	c.1169G>A	c.(1168-1170)cGg>cAg	p.R390Q	TRAIP_ENST00000469027.1_Missense_Mutation_p.R235Q	NM_005879.2	NP_005870.2	Q9BWF2	TRAIP_HUMAN	TRAF interacting protein	390	Interaction with CYLD.				cell proliferation|induction of apoptosis	perinuclear region of cytoplasm	protein binding|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GATGGCATTCCGGACAAAAAT	0.587													27	49					0	0	1	0	0	T	49867117	C	T	49867117	3	4	61	1	0	0	0	0	1	0	0	0	16509	652	23	1	252	1	TRAIP	3	49867117	Missense_Mutation	SNP	C	TCGA-DH-A66B-01A-11D-A29Q-08	7116544	49867117	148155313	14	2647											
WDR17	116966	broad.mit.edu	37	4	177032847	177032847	+	Missense_Mutation	SNP	T	T	C			TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr4:177032847T>C	ENST00000393643.2	+	2	368	c.116T>C	c.(115-117)aTt>aCt	p.I39T	WDR17_ENST00000280190.4_Missense_Mutation_p.I63T|WDR17_ENST00000508596.1_Missense_Mutation_p.I39T|WDR17_ENST00000507824.2_Missense_Mutation_p.I63T	NM_170710.4	NP_733828.2	Q8IZU2	WDR17_HUMAN	WD repeat domain 17	63										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		GCTATCTATATTTATCAGGTA	0.343													15	37					0	0	1	0	0	C	177032847	T	C	177032847	3	2	61	1	0	0	0	0	1	0	0	0	17337	1493	52	3	194	3	WDR17	4	177032847	Missense_Mutation	SNP	T	TCGA-DH-A66B-01A-11D-A29Q-08		177032847	14121429	15	2648											
PCDHB4	56131	broad.mit.edu	37	5	140502918	140502918	+	Silent	SNP	C	C	T			TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr5:140502918C>T	ENST00000194152.1	+	1	1338	c.1338C>T	c.(1336-1338)aaC>aaT	p.N446N		NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN		446	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCAATGACAACGCCCCCGCCT	0.602													111	112					0	0	1	0	0	T	140502918	C	T	140502918	2	4	61	1	0	0	0	0	0	0	0	1	11591	535	19	1		1	PCDHB4	5	140502918	Silent	SNP	C	TCGA-DH-A66B-01A-11D-A29Q-08		140502918	40412342	16	2649											
RGL2	5863	broad.mit.edu	37	6	33261741	33261741	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr6:33261741delG	ENST00000444031.2	-	11	1354	c.1210delC	c.(1210-1212)cagfs	p.Q404fs	RGL2_ENST00000497454.1_Intron|PFDN6_ENST00000463584.1_Intron|RGL2_ENST00000437840.2_Intron			O15211	RGL2_HUMAN	ral guanine nucleotide dissociation stimulator-like 2	462	Ras-GEF.				Ras protein signal transduction|regulation of small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity			breast(2)|cervix(2)|endometrium(7)|kidney(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	34						AGGGACCCCTGACTTTTCCCC	0.542													76	304	---	---	---	---						-	33261741	G	-	33261741	7	5	61	1	0	1	0	1	0	0	0	0	13329	1305	45	0		0	RGL2	6	33261741	Frame_Shift_Del	DEL	G	TCGA-DH-A66B-01A-11D-A29Q-08		33261741	137853326	17	2650											
ITPR3	3710	broad.mit.edu	37	6	33632727	33632727	+	Missense_Mutation	SNP	A	A	G			TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr6:33632727A>G	ENST00000374316.5	+	13	2289	c.1229A>G	c.(1228-1230)gAg>gGg	p.E410G	ITPR3_ENST00000605930.1_Missense_Mutation_p.E410G			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	410	MIR 5.				activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						ATCGAGGAGGAGCGGCCCATC	0.667													25	45					0	0	1	0	0	G	33632727	A	G	33632727	3	3	61	1	0	0	0	0	1	0	0	0	7966	304	11	3	1275	3	ITPR3	6	33632727	Missense_Mutation	SNP	A	TCGA-DH-A66B-01A-11D-A29Q-08	370986	33632727	137482340	18	2651											
PKHD1	5314	broad.mit.edu	37	6	51768522	51768522	+	Missense_Mutation	SNP	C	C	G			TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr6:51768522C>G	ENST00000371117.3	-	43	7144	c.6869G>C	c.(6868-6870)tGg>tCg	p.W2290S	PKHD1_ENST00000340994.4_Missense_Mutation_p.W2290S	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	2290					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)					ATGTCCTGACCAGTCTAATGT	0.393													16	41					0	0	1	0	0	G	51768522	C	G	51768522	3	3	61	1	0	0	0	0	1	0	0	0	12019	595	21	5	5494	5	PKHD1	6	51768522	Missense_Mutation	SNP	C	TCGA-DH-A66B-01A-11D-A29Q-08	18135795	51768522	119346545	19	2652											
DNAH11	8701	broad.mit.edu	37	7	21824082	21824082	+	Missense_Mutation	SNP	G	G	C			TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr7:21824082G>C	ENST00000328843.6	+	59	9573	c.9542G>C	c.(9541-9543)aGa>aCa	p.R3181T	DNAH11_ENST00000409508.3_Missense_Mutation_p.R3174T			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	3181	Stalk (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						CAGAAACAGAGAGAATGTGAA	0.413									Kartagener syndrome				3	28					0	0	1	0	0	C	21824082	G	C	21824082	3	2	61	1	0	0	0	0	1	0	0	0	4627	942	33	4	9773	4	DNAH11	7	21824082	Missense_Mutation	SNP	G	TCGA-DH-A66B-01A-11D-A29Q-08		21824082	137314581	20	2653											
TNS3	64759	broad.mit.edu	37	7	47407972	47407972	+	Silent	SNP	G	G	A			TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr7:47407972G>A	ENST00000398879.1	-	17	2637	c.2271C>T	c.(2269-2271)acC>acT	p.T757T	TNS3_ENST00000311160.9_Silent_p.T757T|TNS3_ENST00000355730.3_Silent_p.T517T			Q68CZ2	TENS3_HUMAN	tensin 3	757						focal adhesion	protein binding			NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						CTTGCCGCCCGGTGGCCCTGC	0.632													61	219					0	0	1	0	0	A	47407972	G	A	47407972	2	1	61	1	0	0	0	0	0	0	0	1	16404	1103	39	1		1	TNS3	7	47407972	Silent	SNP	G	TCGA-DH-A66B-01A-11D-A29Q-08	25583890	47407972	111730691	21	2654											
COBL	23242	broad.mit.edu	37	7	51093066	51093066	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr7:51093066C>T	ENST00000395542.2	-	14	3938	c.3754G>A	c.(3754-3756)Gca>Aca	p.A1252T	COBL_ENST00000265136.7_Missense_Mutation_p.A1170T			O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	1170	WH2 3.									NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					GCAGAGGATGCCACCTGGCAA	0.517													13	60					0	0	1	0	0	T	51093066	C	T	51093066	3	4	61	1	0	0	0	0	1	0	0	0	3676	739	26	2	285	2	COBL	7	51093066	Missense_Mutation	SNP	C	TCGA-DH-A66B-01A-11D-A29Q-08	3685094	51093066	108045597	22	2655											
CYP3A4	1576	broad.mit.edu	37	7	99364768	99364768	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr7:99364768C>T	ENST00000354593.2	-	3	437	c.334G>A	c.(334-336)Gaa>Aaa	p.E112K	CYP3A4_ENST00000336411.2_Missense_Mutation_p.E262K			P08684	CP3A4_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 4	262					alkaloid catabolic process|androgen metabolic process|exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid catabolic process|xenobiotic metabolic process	cell surface|endoplasmic reticulum membrane|integral to membrane|microsome	albendazole monooxygenase activity|caffeine oxidase activity|electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding|quinine 3-monooxygenase activity|steroid binding|taurochenodeoxycholate 6alpha-hydroxylase activity|testosterone 6-beta-hydroxylase activity|vitamin D 24-hydroxylase activity|vitamin D3 25-hydroxylase activity			breast(3)|central_nervous_system(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|skin(2)	18	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)				Albendazole(DB00518)|Alclometasone(DB00240)|Alfentanil(DB00802)|Alfuzosin(DB00346)|Aliskiren(DB01258)|Almotriptan(DB00918)|Alosetron(DB00969)|Alprazolam(DB00404)|Amlodipine(DB00381)|Amprenavir(DB00701)|Aprepitant(DB00673)|Aripiprazole(DB01238)|Astemizole(DB00637)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Benazepril(DB00542)|Bepridil(DB01244)|Betamethasone(DB00443)|Bexarotene(DB00307)|Bortezomib(DB00188)|Bosentan(DB00559)|Bromocriptine(DB01200)|Budesonide(DB01222)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Buspirone(DB00490)|Busulfan(DB01008)|Carbamazepine(DB00564)|Cevimeline(DB00185)|Chlorpheniramine(DB01114)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cinacalcet(DB01012)|Cisapride(DB00604)|Clarithromycin(DB01211)|Clindamycin(DB01190)|Clofibrate(DB00636)|Clonazepam(DB01068)|Clopidogrel(DB00758)|Cocaine(DB00907)|Conivaptan(DB00872)|Conjugated Estrogens(DB00286)|Cyproterone(DB04839)|Darifenacin(DB00496)|Darunavir(DB01264)|Dasatinib(DB01254)|Delavirdine(DB00705)|Desogestrel(DB00304)|Dexamethasone(DB01234)|Diazepam(DB00829)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dofetilide(DB00204)|Dolasetron(DB00757)|Domperidone(DB01184)|Donepezil(DB00843)|Doxorubicin(DB00997)|Drospirenone(DB01395)|Dutasteride(DB01126)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enalapril(DB00584)|Epirubicin(DB00445)|Eplerenone(DB00700)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethinyl Estradiol(DB00977)|Ethosuximide(DB00593)|Etonogestrel(DB00294)|Etoposide(DB00773)|Etoricoxib(DB01628)|Exemestane(DB00990)|Felodipine(DB01023)|Fentanyl(DB00813)|Fexofenadine(DB00950)|Finasteride(DB01216)|Fluconazole(DB00196)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Fosamprenavir(DB01319)|Fulvestrant(DB00947)|Galantamine(DB00674)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Granisetron(DB00889)|Grepafloxacin(DB00365)|Halofantrine(DB01218)|Hydrocodone(DB00956)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Hydromorphone(DB00327)|Imatinib(DB00619)|Indinavir(DB00224)|Ipratropium(DB00332)|Irinotecan(DB00762)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Isradipine(DB00270)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lercanidipine(DB00528)|Letrozole(DB01006)|Levobupivacaine(DB01002)|Levomethadyl Acetate(DB01227)|Levothyroxine(DB00451)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Maraviroc(DB04835)|Marinol(DB00470)|Mebendazole(DB00643)|Medroxyprogesterone(DB00603)|Methadone(DB00333)|Methylprednisolone(DB00959)|Metyrapone(DB01011)|Mibefradil(DB01388)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirtazapine(DB00370)|Modafinil(DB00745)|Mometasone(DB00764)|Montelukast(DB00471)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Norethindrone(DB00717)|Norgestrel(DB00506)|Nystatin(DB00646)|Ondansetron(DB00904)|Oxybutynin(DB01062)|Paclitaxel(DB01229)|Paliperidone(DB01267)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Paricalcitol(DB00910)|Phenmetrazine(DB00830)|Pimecrolimus(DB00337)|Pimozide(DB01100)|Pioglitazone(DB01132)|Posaconazole(DB01263)|Pranlukast(DB01411)|Prednisolone(DB00860)|Prednisone(DB00635)|Prochlorperazine(DB00433)|Quetiapine(DB01224)|Quinapril(DB00881)|Quinine(DB00468)|Rabeprazole(DB01129)|Ranolazine(DB00243)|Reboxetine(DB00234)|Retapamulin(DB01256)|Rifabutin(DB00615)|Rifampin(DB01045)|Rimonabant(DB06155)|Ritonavir(DB00503)|Rofecoxib(DB00533)|Roxithromycin(DB00778)|Salmeterol(DB00938)|Saquinavir(DB01232)|Sertindole(DB06144)|Sibutramine(DB01105)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|Solifenacin(DB01591)|Sorafenib(DB00398)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tadalafil(DB00820)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Terconazole(DB00251)|Terfenadine(DB00342)|Testosterone(DB00624)|Tiagabine(DB00906)|Ticlopidine(DB00208)|Tinidazole(DB00911)|Tiotropium(DB01409)|Tipranavir(DB00932)|Toremifene(DB00539)|Triazolam(DB00897)|Trimetrexate(DB01157)|Troglitazone(DB00197)|Valdecoxib(DB00580)|Vardenafil(DB00862)|Vinblastine(DB00570)|Vincristine(DB00541)|Vindesine(DB00309)|Vinorelbine(DB00361)|Voriconazole(DB00582)|Zaleplon(DB00962)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolpidem(DB00425)|Zonisamide(DB00909)	TGTGTATCTTCGAGGCGACTT	0.308													14	45					0	0	1	0	0	T	99364768	C	T	99364768	3	4	61	1	0	0	0	0	1	0	0	0	4201	893	31	1	751	1	CYP3A4	7	99364768	Missense_Mutation	SNP	C	TCGA-DH-A66B-01A-11D-A29Q-08	48271702	99364768	59773895	23	2656											
PTPRZ1	5803	broad.mit.edu	37	7	121693973	121693973	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr7:121693973C>T	ENST00000393386.2	+	26	6673	c.6262C>T	c.(6262-6264)Cag>Tag	p.Q2088*	PTPRZ1_ENST00000449182.1_Nonsense_Mutation_p.Q1221*	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	2088	Tyrosine-protein phosphatase 2.				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						GGGCTATTACCAGAGCAATGA	0.403													47	71					0	0	1	0	0	T	121693973	C	T	121693973	4	4	61	1	0	0	0	0	0	1	0	0	12866	595	21	2	6364	2	PTPRZ1	7	121693973	Nonsense_Mutation	SNP	C	TCGA-DH-A66B-01A-11D-A29Q-08	22329205	121693973	37444690	24	2657											
XKR5	389610	broad.mit.edu	37	8	6673270	6673270	+	RNA	DEL	A	A	-			TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr8:6673270delA	ENST00000518724.1	-	0	1071							Q6UX68	XKR5_HUMAN	XK, Kell blood group complex subunit-related family, member 5							integral to membrane				endometrium(1)|large_intestine(1)|lung(1)	3			STAD - Stomach adenocarcinoma(24;0.0984)	READ - Rectum adenocarcinoma(644;0.137)|COAD - Colon adenocarcinoma(149;0.166)		AGCCCATTGTAAAAAAAAAAA	0.502											OREG0018511	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2	4	---	---	---	---						-	6673270	A	-	6673270	6	5	61	0	1	1	0	1	0	0	0	0	17494	377	13	0		0	XKR5	8	6673270	RNA	DEL	A	TCGA-DH-A66B-01A-11D-A29Q-08		6673270	139690752	25	2658											
ADAM28	10863	broad.mit.edu	37	8	24181517	24181517	+	Splice_Site	SNP	G	G	A	rs138768775		TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr8:24181517G>A	ENST00000265769.4	+	9	1000		c.e9+1		ADAM28_ENST00000540823.1_Splice_Site|RP11-624C23.1_ENST00000523700.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA|ADAM28_ENST00000518516.1_Splice_Site|ADAM28_ENST00000397649.3_Splice_Site|RP11-624C23.1_ENST00000518988.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA|ADAM28_ENST00000437154.2_Splice_Site	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28						proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		AGTTAATCACGTATGTACAGA	0.423													8	25					0	0	1	0	0	A	24181517	G	A	24181517	5	1	61	1	0	0	0	0	0	0	1	0	245	1159	40	1	925	1	ADAM28	8	24181517	Splice_Site	SNP	G	TCGA-DH-A66B-01A-11D-A29Q-08	17508247	24181517	122182505	26	2659											
CRISPLD1	83690	broad.mit.edu	37	8	75932115	75932115	+	Missense_Mutation	SNP	T	T	C			TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr8:75932115T>C	ENST00000262207.4	+	11	1606	c.1138T>C	c.(1138-1140)Tct>Cct	p.S380P	CRISPLD1_ENST00000517786.1_Missense_Mutation_p.S194P|CRISPLD1_ENST00000523524.1_Missense_Mutation_p.S192P	NM_031461.5	NP_113649.1	Q9H336	CRLD1_HUMAN	cysteine-rich secretory protein LCCL domain containing 1	380	LCCL 1.					extracellular region				biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(64;0.0799)		Epithelial(68;0.155)|BRCA - Breast invasive adenocarcinoma(89;0.161)			CAAATATCAGTCTGCTAATTC	0.333													22	22					0	0	1	0	0	C	75932115	T	C	75932115	3	2	61	1	0	0	0	0	1	0	0	0	3905	1667	58	3	1176	3	CRISPLD1	8	75932115	Missense_Mutation	SNP	T	TCGA-DH-A66B-01A-11D-A29Q-08	51750598	75932115	70431907	27	2660											
SCRIB	23513	broad.mit.edu	37	8	144886879	144886882	+	Frame_Shift_Del	DEL	GGGA	GGGA	-			TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr8:144886879_144886882delGGGA	ENST00000356994.2	-	21	2871_2874	c.2865_2868delTCCC	c.(2863-2868)cctcccfs	p.PP955fs	SCRIB_ENST00000377533.3_Frame_Shift_Del_p.PP874fs|SCRIB_ENST00000320476.3_Frame_Shift_Del_p.PP955fs	NM_182706.4	NP_874365	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	955	Interaction with ARHGEF7.				activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	cell-cell adherens junction|Scrib-APC-beta-catenin complex	protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			GCAGAGGGCTGGGAGGAAGAGGGC	0.696													10	31	---	---	---	---						-	144886882	GGGA	-	144886879	7	5	61	1	0	1	0	1	0	0	0	0	13991	1335	47	0	2167	0	SCRIB	8	144886879	Frame_Shift_Del	DEL	GGGA	TCGA-DH-A66B-01A-11D-A29Q-08	68954764	144886879	1477143	28	2661											
RGS3	5998	broad.mit.edu	37	9	116224037	116224037	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr9:116224037G>A	ENST00000374140.2	+	3	340	c.131G>A	c.(130-132)cGt>cAt	p.R44H	RGS3_ENST00000350696.5_Missense_Mutation_p.R44H	NM_001282923.1|NM_144488.4	NP_001269852.1|NP_652759.3	P49796	RGS3_HUMAN	regulator of G-protein signaling 3	44					inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	cytosol|nucleus|plasma membrane	GTPase activator activity|signal transducer activity			cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						GGATCTCACCGTCCTGAGTGT	0.537													24	112					0	0	1	0	0	A	116224037	G	A	116224037	3	1	61	1	0	0	0	0	1	0	0	0	13356	1145	40	1	137	1	RGS3	9	116224037	Missense_Mutation	SNP	G	TCGA-DH-A66B-01A-11D-A29Q-08		116224037	24989394	29	2662											
RGS3	5998	broad.mit.edu	37	9	116246504	116246506	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr9:116246504_116246506delCTT	ENST00000374140.2	+	7	821_823	c.612_614delCTT	c.(610-615)cacttc>cac	p.F207del	RGS3_ENST00000317613.6_In_Frame_Del_p.F95del|RGS3_ENST00000350696.5_In_Frame_Del_p.F207del	NM_001282923.1|NM_144488.4	NP_001269852.1|NP_652759.3	P49796	RGS3_HUMAN	regulator of G-protein signaling 3	207	C2.				inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	cytosol|nucleus|plasma membrane	GTPase activator activity|signal transducer activity			cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						TCCACGAGCACTTCTTCTTGTAA	0.473													13	88	---	---	---	---						-	116246506	CTT	-	116246504	7	5	61	1	0	1	0	1	0	0	0	0	13356	564	20	0	717	0	RGS3	9	116246504	In_Frame_Del	DEL	CTT	TCGA-DH-A66B-01A-11D-A29Q-08	22467	116246504	24966927	30	2663											
NOTCH1	4851	broad.mit.edu	37	9	139412302	139412302	+	Missense_Mutation	SNP	C	C	A			TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr9:139412302C>A	ENST00000277541.6	-	8	1418	c.1343G>T	c.(1342-1344)cGa>cTa	p.R448L		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	448	EGF-like 11; calcium-binding (Potential).				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GATCTCGCATCGGGGGCCCGT	0.647			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			24	80					4.26978e-12	4.69675e-12	1	1	0	A	139412302	C	A	139412302	3	1	61	1	0	0	0	0	1	0	0	0	10594	884	31	5	6432	5	NOTCH1	9	139412302	Missense_Mutation	SNP	C	TCGA-DH-A66B-01A-11D-A29Q-08	23165798	139412302	1801129	31	2664											
PCDH15	65217	broad.mit.edu	37	10	55581631	55581631	+	Missense_Mutation	SNP	G	G	C			TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr10:55581631G>C	ENST00000361849.3	-	34	6255	c.5861C>G	c.(5860-5862)tCt>tGt	p.S1954C	PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395432.2_Missense_Mutation_p.S1912C|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395433.1_Missense_Mutation_p.S1929C|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000373957.3_Missense_Mutation_p.S806C|PCDH15_ENST00000437009.1_Missense_Mutation_p.S1883C|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000395438.1_Intron|PCDH15_ENST00000320301.6_Missense_Mutation_p.S1952C|PCDH15_ENST00000395445.1_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.S1949C|PCDH15_ENST00000395446.1_Intron	NM_001142763.1|NM_001142764.1|NM_001142765.1|NM_001142768.1	NP_001136235.1|NP_001136236.1|NP_001136237.1|NP_001136240.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1952					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				CAGTGAAGTAGATTGACTGTG	0.363										HNSCC(58;0.16)			21	115					0	0	1	0	0	C	55581631	G	C	55581631	3	2	61	1	0	0	0	0	1	0	0	0	11558	942	33	4	1622	4	PCDH15	10	55581631	Missense_Mutation	SNP	G	TCGA-DH-A66B-01A-11D-A29Q-08		55581631	79953116	32	2665											
OR52M1	119772	broad.mit.edu	37	11	4567331	4567331	+	Missense_Mutation	SNP	A	A	G			TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr11:4567331A>G	ENST00000360213.1	+	1	911	c.911A>G	c.(910-912)gAg>gGg	p.E304G		NM_001004137.1	NP_001004137.1	Q8NGK5	O52M1_HUMAN	olfactory receptor, family 52, subfamily M, member 1	304					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(2)|lung(9)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		CAGATCCGAGAGAGCCTTCTC	0.438													4	75					0	0	1	0	0	G	4567331	A	G	4567331	3	3	61	1	0	0	0	0	1	0	0	0	11174	304	11	3	913	3	OR52M1	11	4567331	Missense_Mutation	SNP	A	TCGA-DH-A66B-01A-11D-A29Q-08		4567331	130439185	33	2666											
APIP	51074	broad.mit.edu	37	11	34909891	34909891	+	Missense_Mutation	SNP	T	T	C			TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr11:34909891T>C	ENST00000395787.3	-	5	624	c.410A>G	c.(409-411)cAt>cGt	p.H137R	APIP_ENST00000278359.5_Missense_Mutation_p.H154R|APIP_ENST00000527830.1_5'UTR	NM_015957.2	NP_057041.2	Q96GX9	MTNB_HUMAN	APAF1 interacting protein	137					apoptosis|L-methionine salvage	cytoplasm	identical protein binding|metal ion binding|methylthioribulose 1-phosphate dehydratase activity			kidney(2)|lung(1)|skin(1)	4	all_epithelial(35;0.161)	all_hematologic(20;0.107)	STAD - Stomach adenocarcinoma(6;0.000425)			CATCTCTTGATGTGTAATTTT	0.373													22	73					0	0	1	0	0	C	34909891	T	C	34909891	3	2	61	1	0	0	0	0	1	0	0	0	770	1464	51	3	330	3	APIP	11	34909891	Missense_Mutation	SNP	T	TCGA-DH-A66B-01A-11D-A29Q-08	30342560	34909891	100096625	34	2667											
OR6Q1	219952	broad.mit.edu	37	11	57798711	57798711	+	Missense_Mutation	SNP	T	T	C			TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr11:57798711T>C	ENST00000302622.3	+	1	310	c.287T>C	c.(286-288)aTc>aCc	p.I96T	OR9Q1_ENST00000335397.3_Intron	NM_001005186.2	NP_001005186.2	Q8NGQ2	OR6Q1_HUMAN	olfactory receptor, family 6, subfamily Q, member 1	96					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			biliary_tract(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(21;0.0707)|all_epithelial(135;0.142)				GGCAAGAATATCTCTTATGCT	0.483													10	139					0	0	1	0	0	C	57798711	T	C	57798711	3	2	61	1	0	0	0	0	1	0	0	0	11255	1435	50	3	289	3	OR6Q1	11	57798711	Missense_Mutation	SNP	T	TCGA-DH-A66B-01A-11D-A29Q-08	22888820	57798711	77207805	35	2668											
COQ5	84274	broad.mit.edu	37	12	120947837	120947837	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr12:120947837C>T	ENST00000288532.6	-	4	704	c.664G>A	c.(664-666)Gtc>Atc	p.V222I	COQ5_ENST00000445328.2_Missense_Mutation_p.V148I	NM_032314.3	NP_115690.3	Q5HYK3	COQ5_HUMAN	coenzyme Q5 homolog, methyltransferase (S. cerevisiae)	222					ubiquinone biosynthetic process	mitochondrion	methyltransferase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(1)|prostate(1)|urinary_tract(3)	20	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					ATGTGTGTGACATTCCGGATC	0.433													14	38					0	0	1	0	0	T	120947837	C	T	120947837	3	4	61	1	0	0	0	0	1	0	0	0	3771	478	17	2	335	2	COQ5	12	120947837	Missense_Mutation	SNP	C	TCGA-DH-A66B-01A-11D-A29Q-08		120947837	12904058	36	2669											
RXFP2	122042	broad.mit.edu	37	13	32371470	32371471	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr13:32371470_32371471delTC	ENST00000298386.2	+	17	1990_1991	c.1919_1920delTC	c.(1918-1920)ttcfs	p.F642fs	RXFP2_ENST00000380314.1_Frame_Shift_Del_p.F618fs	NM_130806.3	NP_570718.1	Q8WXD0	RXFP2_HUMAN	relaxin/insulin-like family peptide receptor 2	642						integral to membrane|plasma membrane				cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1)	33		Lung SC(185;0.0262)		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)		GCAAATCGTTTCTTTTTTATAG	0.396													45	53	---	---	---	---						-	32371471	TC	-	32371470	7	5	61	1	0	1	0	1	0	0	0	0	13812	1783	62	0	1985	0	RXFP2	13	32371470	Frame_Shift_Del	DEL	TC	TCGA-DH-A66B-01A-11D-A29Q-08		32371470	82798408	37	2670											
SPRY2	10253	broad.mit.edu	37	13	80911693	80911693	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr13:80911693G>A	ENST00000377102.1	-	2	1125	c.148C>T	c.(148-150)Cga>Tga	p.R50*	SPRY2_ENST00000540649.1_Nonsense_Mutation_p.R50*|SPRY2_ENST00000377104.3_Nonsense_Mutation_p.R50*			O43597	SPY2_HUMAN	sprouty homolog 2 (Drosophila)	50					epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of ERK1 and ERK2 cascade|positive regulation of gene expression|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein kinase B signaling cascade	cytosol|microtubule|ruffle membrane	protein serine/threonine kinase activator activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	12	Medulloblastoma(90;0.18)	Acute lymphoblastic leukemia(28;0.218)|Breast(118;0.244)		GBM - Glioblastoma multiforme(99;0.0318)		TTGGTGTTTCGGATGGCTCTG	0.612													4	145					0	0	1	0	0	A	80911693	G	A	80911693	4	1	61	1	0	0	0	0	0	1	0	0	15162	1124	39	1	803	1	SPRY2	13	80911693	Nonsense_Mutation	SNP	G	TCGA-DH-A66B-01A-11D-A29Q-08	48540223	80911693	34258185	38	2671											
CEBPE	1053	broad.mit.edu	37	14	23588124	23588124	+	Silent	SNP	G	G	A	rs141320203		TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr14:23588124G>A	ENST00000206513.5	-	1	701	c.177C>T	c.(175-177)gcC>gcT	p.A59A		NM_001805.3	NP_001796.2	Q15744	CEBPE_HUMAN	CCAAT/enhancer binding protein (C/EBP), epsilon	59						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)	9	all_cancers(95;4.6e-05)			GBM - Glioblastoma multiforme(265;0.0064)		CTGGCTTCACGGCAAAGAGAT	0.647													27	147					0	0	1	0	0	A	23588124	G	A	23588124	2	1	61	1	0	0	0	0	0	0	0	1	3224	1103	39	1		1	CEBPE	14	23588124	Silent	SNP	G	TCGA-DH-A66B-01A-11D-A29Q-08		23588124	83761416	39	2672											
OTX2	5015	broad.mit.edu	37	14	57268721	57268721	+	Missense_Mutation	SNP	C	C	A			TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr14:57268721C>A	ENST00000339475.5	-	5	902	c.626G>T	c.(625-627)tGt>tTt	p.C209F	OTX2_ENST00000554788.1_3'UTR|OTX2_ENST00000555006.1_Missense_Mutation_p.C201F|OTX2_ENST00000408990.3_Missense_Mutation_p.C201F	NM_001270523.1|NM_001270524.1|NM_001270525.1|NM_021728.3	NP_001257452.1|NP_001257453.1|NP_001257454.1|NP_068374.1	P32243	OTX2_HUMAN	orthodenticle homeobox 2	201					axon guidance|forebrain development|midbrain development|positive regulation of embryonic development|positive regulation of gastrulation|primitive streak formation|protein complex assembly|regulation of fibroblast growth factor receptor signaling pathway|regulation of smoothened signaling pathway	growth cone|nucleus|protein complex	eukaryotic initiation factor 4E binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	19	Medulloblastoma(1;0.00184)|all_neural(1;0.00414)					ATATGATCCACAGTCCATGCC	0.522													20	79					1.50039e-11	1.62337e-11	1	1	0	A	57268721	C	A	57268721	3	1	61	1	0	0	0	0	1	0	0	0	11368	478	17	5	271	5	OTX2	14	57268721	Missense_Mutation	SNP	C	TCGA-DH-A66B-01A-11D-A29Q-08	33680597	57268721	50080819	40	2673											
MAP2K5	5607	broad.mit.edu	37	15	67878228	67878228	+	Splice_Site	SNP	C	C	T			TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr15:67878228C>T	ENST00000178640.5	+	5	950	c.323C>T	c.(322-324)gCc>gTc	p.A108V	MAP2K5_ENST00000395476.2_Splice_Site_p.A108V|MAP2K5_ENST00000560591.1_3'UTR|MAP2K5_ENST00000354498.5_Splice_Site_p.A72V	NM_145160.2	NP_660143.1	Q13163	MP2K5_HUMAN	mitogen-activated protein kinase kinase 5	108					nerve growth factor receptor signaling pathway		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|skin(1)	16						ACTGTTTCAGCCTGCAAGCCT	0.373													8	71					0	0	1	0	0	T	67878228	C	T	67878228	5	4	61	1	0	0	0	0	0	0	1	0	9290	753	26	2	341	2	MAP2K5	15	67878228	Splice_Site	SNP	C	TCGA-DH-A66B-01A-11D-A29Q-08		67878228	34653164	41	2674											
PLIN1	5346	broad.mit.edu	37	15	90212791	90212791	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr15:90212791C>T	ENST00000300055.5	-	6	876	c.711G>A	c.(709-711)atG>atA	p.M237I	PLIN1_ENST00000430628.2_Missense_Mutation_p.M237I	NM_002666.4	NP_002657.3	O60240	PLIN1_HUMAN	perilipin 1	237					triglyceride catabolic process	lipid particle	lipid binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|skin(2)	13						GGGCCCGGGCCATGGTCTGCA	0.642													23	69					0	0	1	0	0	T	90212791	C	T	90212791	3	4	61	1	0	0	0	0	1	0	0	0	12137	594	21	2	873	2	PLIN1	15	90212791	Missense_Mutation	SNP	C	TCGA-DH-A66B-01A-11D-A29Q-08	22334563	90212791	12318601	42	2675											
WDR24	84219	broad.mit.edu	37	16	739166	739166	+	Missense_Mutation	SNP	A	A	T			TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr16:739166A>T	ENST00000293883.4	-	1	1234	c.475T>A	c.(475-477)Ttc>Atc	p.F159I	WDR24_ENST00000248142.6_Missense_Mutation_p.F221I	NM_032259.2	NP_115635.1	Q96S15	WDR24_HUMAN	WD repeat domain 24	221										breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(3)	19		Hepatocellular(780;0.0218)				TCACCCGAGAAGGTGCTGACA	0.632													40	84					0	0	1	0	0	T	739166	A	T	739166	3	4	61	1	0	0	0	0	1	0	0	0	17341	72	3	5	1933	5	WDR24	16	739166	Missense_Mutation	SNP	A	TCGA-DH-A66B-01A-11D-A29Q-08		739166	89615587	43	2676											
ADCY9	115	broad.mit.edu	37	16	4165289	4165291	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr16:4165289_4165291delGAG	ENST00000294016.3	-	2	691_693	c.153_155delCTC	c.(151-156)tcctct>tct	p.51_52SS>S		NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	51					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding	p.S52C(1)		breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						GCTGCAGCTAGAGGAGATGCTGT	0.665													9	57	---	---	---	---						-	4165291	GAG	-	4165289	7	5	61	1	0	1	0	1	0	0	0	0	300	942	33	0	3946	0	ADCY9	16	4165289	In_Frame_Del	DEL	GAG	TCGA-DH-A66B-01A-11D-A29Q-08	3426123	4165289	86189464	44	2677											
PPL	5493	broad.mit.edu	37	16	4935140	4935142	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr16:4935140_4935142delCTC	ENST00000345988.2	-	22	3603_3605	c.3514_3516delGAG	c.(3514-3516)gagdel	p.E1172del	PPL_ENST00000590782.2_In_Frame_Del_p.E1170del	NM_002705.4	NP_002696	O60437	PEPL_HUMAN	periplakin	1172					keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						CCCGCACCTTCTCCTGCACCACC	0.635													25	230	---	---	---	---						-	4935142	CTC	-	4935140	7	5	61	1	0	1	0	1	0	0	0	0	12383	912	32	0	1758	0	PPL	16	4935140	In_Frame_Del	DEL	CTC	TCGA-DH-A66B-01A-11D-A29Q-08	769851	4935140	85419613	45	2678											
MYH11	4629	broad.mit.edu	37	16	15835445	15835445	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr16:15835445G>A	ENST00000452625.2	-	23	2842	c.2755C>T	c.(2755-2757)Cgg>Tgg	p.R919W	AF001548.6_ENST00000577048.1_RNA|MYH11_ENST00000576790.2_Missense_Mutation_p.R912W|MYH11_ENST00000300036.5_Missense_Mutation_p.R912W|MYH11_ENST00000396324.3_Missense_Mutation_p.R919W	NM_001040113.1	NP_001035202.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	912					axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						GCCGCCAGCCGCACCCGCATC	0.622			T	CBFB	AML								5	254					0	0	1	0	0	A	15835445	G	A	15835445	3	1	61	1	0	0	0	0	1	0	0	0	10079	1086	38	1	3299	1	MYH11	16	15835445	Missense_Mutation	SNP	G	TCGA-DH-A66B-01A-11D-A29Q-08	10900305	15835445	74519308	46	2679											
DNAJA2	10294	broad.mit.edu	37	16	46991039	46991040	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr16:46991039_46991040delCT	ENST00000317089.5	-	9	1355_1356	c.1140_1141delAG	c.(1138-1143)cgaggcfs	p.G381fs		NM_005880.3	NP_005871.1	O60884	DNJA2_HUMAN	DnaJ (Hsp40) homolog, subfamily A, member 2	381					positive regulation of cell proliferation|protein folding|response to heat	membrane	ATP binding|heat shock protein binding|metal ion binding|unfolded protein binding	p.R380R(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|upper_aerodigestive_tract(1)	14		all_cancers(37;0.00125)|all_lung(18;0.00338)|all_epithelial(9;0.00358)|Lung NSC(13;0.0309)|Breast(268;0.116)				CCTCCTGAGCCTCGAGTGCTAT	0.465													156	305	---	---	---	---						-	46991040	CT	-	46991039	7	5	61	1	0	1	0	1	0	0	0	0	4639	681	24	0	101	0	DNAJA2	16	46991039	Frame_Shift_Del	DEL	CT	TCGA-DH-A66B-01A-11D-A29Q-08	31155594	46991039	43363714	47	2680											
TP53	7157	broad.mit.edu	37	17	7576886	7576887	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr17:7576886_7576887insT	ENST00000420246.2	-	9	1091_1092	c.959_960insA	c.(958-960)aagfs	p.K320fs	TP53_ENST00000445888.2_Frame_Shift_Ins_p.K320fs|TP53_ENST00000359597.4_Frame_Shift_Ins_p.K320fs|TP53_ENST00000269305.4_Frame_Shift_Ins_p.K320fs|TP53_ENST00000455263.2_Frame_Shift_Ins_p.K320fs|TP53_ENST00000413465.2_Intron	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	320	Interaction with CARM1.|Interaction with HIPK1 (By similarity).|Interaction with HIPK2.		K -> N (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.0?(8)|p.K320N(3)|p.K320fs*26(2)|p.P318fs*15(2)|p.P318fs*21(1)|p.S315fs*22(1)|p.?(1)|p.K320fs*25(1)|p.L308fs*15(1)|p.K320K(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)		CCAGTGGTTTCTTCTTTGGCTG	0.46		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)			83	21	---	---	---	---						T	7576887	-	T	7576886	7	5	61	1	0	1	1	0	0	0	0	0	16442	912	32	0	322	0	TP53	17	7576886	Frame_Shift_Ins	INS	-	TCGA-DH-A66B-01A-11D-A29Q-08		7576886	73618324	48	2681											
RHOT1	55288	broad.mit.edu	37	17	30520157	30520157	+	Missense_Mutation	SNP	G	G	T			TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr17:30520157G>T	ENST00000358365.3	+	10	869	c.642G>T	c.(640-642)agG>agT	p.R214S	RHOT1_ENST00000581094.1_Missense_Mutation_p.R214S|RHOT1_ENST00000354266.3_Missense_Mutation_p.R193S|RHOT1_ENST00000394692.2_Missense_Mutation_p.R214S|RHOT1_ENST00000580976.1_3'UTR|RHOT1_ENST00000545287.2_Missense_Mutation_p.R214S|RHOT1_ENST00000333942.6_Missense_Mutation_p.R214S|RHOT1_ENST00000583994.1_Missense_Mutation_p.R87S	NM_001033568.1	NP_001028740.1	Q8IXI2	MIRO1_HUMAN	ras homolog family member T1	214	EF-hand 1.				apoptosis|cellular homeostasis|mitochondrion transport along microtubule|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to mitochondrial outer membrane|plasma membrane	calcium ion binding|GTP binding|GTPase activity|protein binding			NS(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28		Myeloproliferative disorder(56;0.0255)|Breast(31;0.116)|Ovarian(249;0.182)				TTTGCTAGAGGATTTGTTTCA	0.333													11	47					1.58986e-06	1.63955e-06	1	1	0	T	30520157	G	T	30520157	3	4	61	1	0	0	0	0	1	0	0	0	13393	1165	41	5	680	5	RHOT1	17	30520157	Missense_Mutation	SNP	G	TCGA-DH-A66B-01A-11D-A29Q-08	22943271	30520157	50675053	49	2682											
KIF2B	84643	broad.mit.edu	37	17	51902246	51902246	+	Missense_Mutation	SNP	C	C	A			TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr17:51902246C>A	ENST00000268919.4	+	1	2008	c.1852C>A	c.(1852-1854)Caa>Aaa	p.Q618K		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	618					blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						GGGATCTAGCCAATGGCTGGA	0.443													22	105					3.7963e-18	4.24671e-18	1	1	0	A	51902246	C	A	51902246	3	1	61	1	0	0	0	0	1	0	0	0	8340	595	21	5	1854	5	KIF2B	17	51902246	Missense_Mutation	SNP	C	TCGA-DH-A66B-01A-11D-A29Q-08	21382089	51902246	29292964	50	2683											
CACNA1A	773	broad.mit.edu	37	19	13318673	13318678	+	In_Frame_Del	DEL	CTGCTG	CTGCTG	-	rs36208091		TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr19:13318673_13318678delCTGCTG	ENST00000360228.5	-	47	6969_6974	c.6970_6975delCAGCAG	c.(6970-6975)cagcagdel	p.QQ2324del	CACNA1A_ENST00000573710.2_3'UTR	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	2323	Poly-Gln.				cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	TGGCCACCGCctgctgctgctgctgc	0.767													2	4	---	---	---	---						-	13318678	CTGCTG	-	13318673	7	5	61	1	0	1	0	1	0	0	0	0	2556	680	24	0	549	0	CACNA1A	19	13318673	In_Frame_Del	DEL	CTGCTG	TCGA-DH-A66B-01A-11D-A29Q-08		13318673	45810310	51	2684											
CYP4F12	66002	broad.mit.edu	37	19	15807863	15807863	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr19:15807863C>T	ENST00000550308.1	+	13	1923	c.1543C>T	c.(1543-1545)Cgg>Tgg	p.R515W	CYP4F12_ENST00000324632.10_Missense_Mutation_p.R515W	NM_023944.3	NP_076433			cytochrome P450, family 4, subfamily F, polypeptide 12											NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)					GCTTTGGCTGCGGGTGGAGCC	0.567													24	101					0	0	1	0	0	T	15807863	C	T	15807863	3	4	61	1	0	0	0	0	1	0	0	0	4210	759	27	1	1589	1	CYP4F12	19	15807863	Missense_Mutation	SNP	C	TCGA-DH-A66B-01A-11D-A29Q-08	2489190	15807863	43321120	52	2685											
ZNF676	163223	broad.mit.edu	37	19	22363763	22363763	+	Silent	SNP	G	G	A			TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr19:22363763G>A	ENST00000397121.2	-	3	1073	c.756C>T	c.(754-756)ccC>ccT	p.P252P		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	252					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				CACATTTGTAGGGTTTCTCTC	0.373													30	66					0	0	1	0	0	A	22363763	G	A	22363763	2	1	61	1	0	0	0	0	0	0	0	1	18140	987	35	2		2	ZNF676	19	22363763	Silent	SNP	G	TCGA-DH-A66B-01A-11D-A29Q-08	6555900	22363763	36765220	53	2686											
LMTK3	114783	broad.mit.edu	37	19	49003052	49003052	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr19:49003052delG	ENST00000600059.1	-	11	1501	c.1274delC	c.(1273-1275)ccafs	p.P426fs	LMTK3_ENST00000270238.3_Frame_Shift_Del_p.P455fs					lemur tyrosine kinase 3											breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1)	16		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)		GTCTCGGGGTGGGGGTGGCGG	0.716													2	4	---	---	---	---						-	49003052	G	-	49003052	7	5	61	1	0	1	0	1	0	0	0	0	8901	1348	47	0	3128	0	LMTK3	19	49003052	Frame_Shift_Del	DEL	G	TCGA-DH-A66B-01A-11D-A29Q-08	26639289	49003052	10125931	54	2687											
CHAF1B	8208	broad.mit.edu	37	21	37775114	37775114	+	Missense_Mutation	SNP	G	G	C			TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr21:37775114G>C	ENST00000314103.5	+	8	873	c.722G>C	c.(721-723)aGt>aCt	p.S241T		NM_005441.2	NP_005432.1	Q13112	CAF1B_HUMAN	chromatin assembly factor 1, subunit B (p60)						cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|cytoplasm	chromatin binding|histone binding|unfolded protein binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(2)	20						CGTAGACTGAGTTTCACTCCC	0.443													46	227					0	0	1	0	0	C	37775114	G	C	37775114	3	2	61	1	0	0	0	0	1	0	0	0	3334	1029	36	4	748	4	CHAF1B	21	37775114	Missense_Mutation	SNP	G	TCGA-DH-A66B-01A-11D-A29Q-08		37775114	10354781	55	2688											
MORC2	22880	broad.mit.edu	37	22	31330834	31330834	+	Silent	SNP	A	A	C			TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr22:31330834A>C	ENST00000397641.3	-	19	2535	c.2127T>G	c.(2125-2127)gtT>gtG	p.V709V	MORC2_ENST00000215862.4_Silent_p.V647V			Q9Y6X9	MORC2_HUMAN	MORC family CW-type zinc finger 2								ATP binding|zinc ion binding			breast(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	21						TGGGAGAAGGAACCTCCCGAG	0.552													69	214					0	0	1	0	0	C	31330834	A	C	31330834	2	2	61	1	0	0	0	0	0	0	0	1	9751	233	9	5		5	MORC2	22	31330834	Silent	SNP	A	TCGA-DH-A66B-01A-11D-A29Q-08		31330834	19973732	56	2689											
ATRX	546	broad.mit.edu	37	X	76938097	76938100	+	Frame_Shift_Del	DEL	TCTT	TCTT	-			TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chrX:76938097_76938100delTCTT	ENST00000373344.5	-	9	2862_2865	c.2648_2651delAAGA	c.(2647-2652)caagagfs	p.QE883fs	ATRX_ENST00000395603.3_Frame_Shift_Del_p.QE845fs|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	883					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)	AGTCTCTCTCTCTTGTTTTCTTTC	0.407			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						79	28	---	---	---	---						-	76938100	TCTT	-	76938097	7	5	61	1	0	1	0	1	0	0	0	0	1206	1551	54	0	4935	0	ATRX	23	76938097	Frame_Shift_Del	DEL	TCTT	TCGA-DH-A66B-01A-11D-A29Q-08		76938097	78332463	57	2690											
OR14A16	284532	broad.mit.edu	37	1	247978935	247978935	+	Missense_Mutation	SNP	A	A	G			TCGA-DH-A66D-01A-11D-A31L-08	TCGA-DH-A66D-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bbff72-b258-4993-b56f-efcc0402d758	eaa534a9-962f-4807-b35a-a42a5aa30665	g.chr1:247978935A>G	ENST00000357627.1	-	1	96	c.97T>C	c.(97-99)Tat>Cat	p.Y33H		NM_001001966.1	NP_001001966.1	Q8NHC5	O14AG_HUMAN	olfactory receptor, family 14, subfamily A, member 16	33					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(32)|skin(2)|stomach(1)	45						GCACACAAATAAATCAACAAG	0.368													3	56					0	0	1	0	0	G	247978935	A	G	247978935	3	3	62	1	0	0	0	0	1	0	0	0	10993	362	13	3	836	3	OR14A16	1	247978935	Missense_Mutation	SNP	A	TCGA-DH-A66D-01A-11D-A31L-08		247978935	1271686	1	2691											
RNASEH1	246243	broad.mit.edu	37	2	3599793	3599793	+	Missense_Mutation	SNP	T	T	C			TCGA-DH-A66D-01A-11D-A31L-08	TCGA-DH-A66D-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bbff72-b258-4993-b56f-efcc0402d758	eaa534a9-962f-4807-b35a-a42a5aa30665	g.chr2:3599793T>C	ENST00000315212.3	-	3	705	c.350A>G	c.(349-351)cAc>cGc	p.H117R		NM_002936.3	NP_002927.2	O60930	RNH1_HUMAN	ribonuclease H1	117					RNA catabolic process	cytoplasm	magnesium ion binding|ribonuclease H activity|RNA binding			endometrium(1)|kidney(1)|lung(7)|ovary(1)|prostate(2)|skin(1)	13	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)			OV - Ovarian serous cystadenocarcinoma(76;0.0713)|Epithelial(75;0.167)|all cancers(51;0.22)		CGGCTTCATGTGCTTTGCATA	0.512													43	50					0	0	1	0	0	C	3599793	T	C	3599793	3	2	62	1	0	0	0	0	1	0	0	0	13463	1696	59	3	534	3	RNASEH1	2	3599793	Missense_Mutation	SNP	T	TCGA-DH-A66D-01A-11D-A31L-08		3599793	239599580	2	2692											
AFTPH	54812	broad.mit.edu	37	2	64778694	64778694	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-A66D-01A-11D-A31L-08	TCGA-DH-A66D-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bbff72-b258-4993-b56f-efcc0402d758	eaa534a9-962f-4807-b35a-a42a5aa30665	g.chr2:64778694G>A	ENST00000422803.1	+	2	400	c.86G>A	c.(85-87)gGg>gAg	p.G29E	AFTPH_ENST00000409933.1_Missense_Mutation_p.G29E|AFTPH_ENST00000238856.4_Missense_Mutation_p.G29E|AFTPH_ENST00000238855.7_Missense_Mutation_p.G29E			Q6ULP2	AFTIN_HUMAN	aftiphilin	29					protein transport	AP-1 adaptor complex|cytosol|nucleus	clathrin binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	35						GATGAATTTGGGGAATTTGGT	0.433													31	128					0	0	1	0	0	A	64778694	G	A	64778694	3	1	62	1	0	0	0	0	1	0	0	0	363	1232	43	2	88	2	AFTPH	2	64778694	Missense_Mutation	SNP	G	TCGA-DH-A66D-01A-11D-A31L-08	61178901	64778694	178420679	3	2693											
ALMS1	7840	broad.mit.edu	37	2	73677010	73677010	+	Missense_Mutation	SNP	A	A	C			TCGA-DH-A66D-01A-11D-A31L-08	TCGA-DH-A66D-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bbff72-b258-4993-b56f-efcc0402d758	eaa534a9-962f-4807-b35a-a42a5aa30665	g.chr2:73677010A>C	ENST00000264448.6	+	8	3464	c.3353A>C	c.(3352-3354)gAg>gCg	p.E1118A	ALMS1_ENST00000377715.1_Missense_Mutation_p.E1118A|ALMS1_ENST00000409009.1_Missense_Mutation_p.E1076A	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	1118	34 X 47 AA approximate tandem repeat.				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						CTGCCTAAAGAGGCTCTGAAA	0.468													104	137					0	0	1	0	0	C	73677010	A	C	73677010	3	2	62	1	0	0	0	0	1	0	0	0	531	304	11	5	3383	5	ALMS1	2	73677010	Missense_Mutation	SNP	A	TCGA-DH-A66D-01A-11D-A31L-08	8898316	73677010	169522363	4	2694											
AMMECR1L	83607	broad.mit.edu	37	2	128631771	128631771	+	Missense_Mutation	SNP	T	T	C			TCGA-DH-A66D-01A-11D-A31L-08	TCGA-DH-A66D-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bbff72-b258-4993-b56f-efcc0402d758	eaa534a9-962f-4807-b35a-a42a5aa30665	g.chr2:128631771T>C	ENST00000272647.5	-	3	298	c.38A>G	c.(37-39)aAg>aGg	p.K13R	AMMECR1L_ENST00000393001.1_Missense_Mutation_p.K13R	NM_001199140.1	NP_001186069.1	Q6DCA0	AMERL_HUMAN	AMMECR1-like	13										central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)	9	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.07)		TGCTGCCAACTTGGGCTCGAG	0.502													11	33					0	0	1	0	0	C	128631771	T	C	128631771	3	2	62	1	0	0	0	0	1	0	0	0	575	1609	56	3	918	3	AMMECR1L	2	128631771	Missense_Mutation	SNP	T	TCGA-DH-A66D-01A-11D-A31L-08	54954761	128631771	114567602	5	2695											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-DH-A66D-01A-11D-A31L-08	TCGA-DH-A66D-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bbff72-b258-4993-b56f-efcc0402d758	eaa534a9-962f-4807-b35a-a42a5aa30665	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	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								23	37					0	0	1	0	0	T	209113112	C	T	209113112	3	4	62	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-DH-A66D-01A-11D-A31L-08	80481341	209113112	34086261	6	2696											
ROBO1	6091	broad.mit.edu	37	3	78685148	78685148	+	Missense_Mutation	SNP	T	T	G			TCGA-DH-A66D-01A-11D-A31L-08	TCGA-DH-A66D-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bbff72-b258-4993-b56f-efcc0402d758	eaa534a9-962f-4807-b35a-a42a5aa30665	g.chr3:78685148T>G	ENST00000436010.2	-	21	4028	c.3031A>C	c.(3031-3033)Atg>Ctg	p.M1011L	ROBO1_ENST00000464233.1_Missense_Mutation_p.M1050L|ROBO1_ENST00000495273.1_Missense_Mutation_p.M1005L|ROBO1_ENST00000467549.1_Intron			Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	1050					activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		AAGGTTTTCATCTCATTGATT	0.423													28	19					0	0	1	0	0	G	78685148	T	G	78685148	3	3	62	1	0	0	0	0	1	0	0	0	13565	1435	50	4	1843	4	ROBO1	3	78685148	Missense_Mutation	SNP	T	TCGA-DH-A66D-01A-11D-A31L-08		78685148	119337282	7	2697											
CEP97	79598	broad.mit.edu	37	3	101477057	101477057	+	Missense_Mutation	SNP	A	A	T			TCGA-DH-A66D-01A-11D-A31L-08	TCGA-DH-A66D-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bbff72-b258-4993-b56f-efcc0402d758	eaa534a9-962f-4807-b35a-a42a5aa30665	g.chr3:101477057A>T	ENST00000341893.3	+	9	2359	c.1607A>T	c.(1606-1608)aAa>aTa	p.K536I	CEP97_ENST00000327230.4_Missense_Mutation_p.K536I|CEP97_ENST00000494050.1_Missense_Mutation_p.K477I			Q8IW35	CEP97_HUMAN	centrosomal protein 97kDa	536	CEP110 binding.					centrosome|nucleus	protein binding			cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29						ACTTCAGAGAAACTTCCCATG	0.393													71	119					0	0	1	0	0	T	101477057	A	T	101477057	3	4	62	1	0	0	0	0	1	0	0	0	3285	14	1	5	1641	5	CEP97	3	101477057	Missense_Mutation	SNP	A	TCGA-DH-A66D-01A-11D-A31L-08	22791909	101477057	96545373	8	2698											
CASR	846	broad.mit.edu	37	3	122002556	122002556	+	Silent	SNP	C	C	T			TCGA-DH-A66D-01A-11D-A31L-08	TCGA-DH-A66D-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bbff72-b258-4993-b56f-efcc0402d758	eaa534a9-962f-4807-b35a-a42a5aa30665	g.chr3:122002556C>T	ENST00000498619.1	+	7	2223	c.1785C>T	c.(1783-1785)tgC>tgT	p.C595C	CASR_ENST00000296154.5_Silent_p.C585C|CASR_ENST00000490131.1_Silent_p.C585C	NM_001178065.1	NP_001171536	P41180	CASR_HUMAN	calcium-sensing receptor	585					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	GTAACAAGTGCCCAGATGACT	0.502													10	70					0	0	1	0	0	T	122002556	C	T	122002556	2	4	62	1	0	0	0	0	0	0	0	1	2700	747	26	2		2	CASR	3	122002556	Silent	SNP	C	TCGA-DH-A66D-01A-11D-A31L-08	20525499	122002556	76019874	9	2699											
ABCF3	55324	broad.mit.edu	37	3	183908941	183908941	+	Silent	SNP	G	G	A			TCGA-DH-A66D-01A-11D-A31L-08	TCGA-DH-A66D-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bbff72-b258-4993-b56f-efcc0402d758	eaa534a9-962f-4807-b35a-a42a5aa30665	g.chr3:183908941G>A	ENST00000429586.2	+	16	1652	c.1467G>A	c.(1465-1467)ccG>ccA	p.P489P	EIF2B5_ENST00000444495.1_Intron|ABCF3_ENST00000292808.5_Silent_p.P483P	NM_018358.2	NP_060828.2	Q9NUQ8	ABCF3_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 3	489							ATP binding|ATPase activity			breast(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(20)|ovary(3)|prostate(5)|upper_aerodigestive_tract(1)	39	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.35e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			AGTTCTCGCCGCCAATTCTGC	0.567													4	148					0	0	1	0	0	A	183908941	G	A	183908941	2	1	62	1	0	0	0	0	0	0	0	1	67	1074	38	1		1	ABCF3	3	183908941	Silent	SNP	G	TCGA-DH-A66D-01A-11D-A31L-08	61906385	183908941	14113489	10	2700											
SRD5A3	79644	broad.mit.edu	37	4	56236091	56236091	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-A66D-01A-11D-A31L-08	TCGA-DH-A66D-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bbff72-b258-4993-b56f-efcc0402d758	eaa534a9-962f-4807-b35a-a42a5aa30665	g.chr4:56236091G>A	ENST00000264228.4	+	5	1018	c.790G>A	c.(790-792)Gtt>Att	p.V264I	SRD5A3-AS1_ENST00000608086.1_RNA|SRD5A3-AS1_ENST00000595734.1_RNA|SRD5A3-AS1_ENST00000598906.1_RNA|SRD5A3-AS1_ENST00000608265.1_RNA|SRD5A3-AS1_ENST00000609580.1_RNA|SRD5A3-AS1_ENST00000596312.1_RNA|SRD5A3-AS1_ENST00000609051.1_RNA|SRD5A3-AS1_ENST00000609573.1_RNA|SRD5A3-AS1_ENST00000433175.2_RNA|SRD5A3-AS1_ENST00000596289.1_RNA|SRD5A3_ENST00000514398.1_3'UTR|SRD5A3-AS1_ENST00000609500.1_RNA|SRD5A3-AS1_ENST00000595103.1_RNA|SRD5A3-AS1_ENST00000609487.1_RNA|SRD5A3-AS1_ENST00000609700.1_RNA|SRD5A3-AS1_ENST00000510637.1_RNA|SRD5A3-AS1_ENST00000608558.1_RNA	NM_024592.4	NP_078868.1	Q9H8P0	PORED_HUMAN	steroid 5 alpha-reductase 3	264					androgen biosynthetic process|dolichol metabolic process|dolichol-linked oligosaccharide biosynthetic process|polyprenol catabolic process	endoplasmic reticulum membrane|integral to membrane	3-oxo-5-alpha-steroid 4-dehydrogenase activity|oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor			cervix(1)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	12	all_cancers(7;0.0308)|all_lung(4;0.00195)|Lung NSC(11;0.00431)|all_epithelial(27;0.0425)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.0179)			GATGATCTACGTTTCCATGGC	0.468													22	78					0	0	1	0	0	A	56236091	G	A	56236091	3	1	62	1	0	0	0	0	1	0	0	0	15196	1145	40	1	808	1	SRD5A3	4	56236091	Missense_Mutation	SNP	G	TCGA-DH-A66D-01A-11D-A31L-08		56236091	134918185	11	2701											
SLC10A7	84068	broad.mit.edu	37	4	147431125	147431125	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-A66D-01A-11D-A31L-08	TCGA-DH-A66D-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bbff72-b258-4993-b56f-efcc0402d758	eaa534a9-962f-4807-b35a-a42a5aa30665	g.chr4:147431125G>A	ENST00000432059.2	-	3	506	c.260C>T	c.(259-261)aCa>aTa	p.T87I	SLC10A7_ENST00000507030.1_Missense_Mutation_p.T87I|SLC10A7_ENST00000511315.1_5'UTR|SLC10A7_ENST00000264986.3_Intron|SLC10A7_ENST00000335472.7_Missense_Mutation_p.T87I|SLC10A7_ENST00000511374.1_Intron|SLC10A7_ENST00000394062.3_Missense_Mutation_p.T87I|SLC10A7_ENST00000394059.4_Missense_Mutation_p.T87I			Q0GE19	NTCP7_HUMAN	solute carrier family 10, member 7	87						integral to membrane	bile acid:sodium symporter activity			endometrium(1)|kidney(3)|large_intestine(3)|lung(8)|skin(1)	16	all_hematologic(180;0.151)					AAGCCATATTGTTGCTGGGAA	0.358													30	50					0	0	1	0	0	A	147431125	G	A	147431125	3	1	62	1	0	0	0	0	1	0	0	0	14434	1377	48	2	847	2	SLC10A7	4	147431125	Missense_Mutation	SNP	G	TCGA-DH-A66D-01A-11D-A31L-08	91195034	147431125	43723151	12	2702											
GLRA3	8001	broad.mit.edu	37	4	175565136	175565136	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-A66D-01A-11D-A31L-08	TCGA-DH-A66D-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bbff72-b258-4993-b56f-efcc0402d758	eaa534a9-962f-4807-b35a-a42a5aa30665	g.chr4:175565136G>A	ENST00000274093.3	-	10	1698	c.1196C>T	c.(1195-1197)aCt>aTt	p.T399I	GLRA3_ENST00000340217.5_Missense_Mutation_p.T384I	NM_006529.2	NP_006520.2	O75311	GLRA3_HUMAN	glycine receptor, alpha 3	399					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity			endometrium(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	35		Prostate(90;0.00601)|Breast(14;0.0091)|Melanoma(52;0.00959)|Renal(120;0.0183)|all_neural(102;0.0891)|all_hematologic(60;0.107)		all cancers(43;4.99e-18)|Epithelial(43;1.18e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.88e-09)|STAD - Stomach adenocarcinoma(60;0.00442)|GBM - Glioblastoma multiforme(59;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0421)	Glycine(DB00145)	GCCCTTTGGAGTCATGCCATC	0.478													23	123					0	0	1	0	0	A	175565136	G	A	175565136	3	1	62	1	0	0	0	0	1	0	0	0	6498	1029	36	2	202	2	GLRA3	4	175565136	Missense_Mutation	SNP	G	TCGA-DH-A66D-01A-11D-A31L-08	28134011	175565136	15589140	13	2703											
SPEF2	79925	broad.mit.edu	37	5	35700785	35700785	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-A66D-01A-11D-A31L-08	TCGA-DH-A66D-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bbff72-b258-4993-b56f-efcc0402d758	eaa534a9-962f-4807-b35a-a42a5aa30665	g.chr5:35700785G>A	ENST00000440995.2	+	16	2314	c.2314G>A	c.(2314-2316)Gca>Aca	p.A772T	CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000509059.1_Missense_Mutation_p.A772T|SPEF2_ENST00000356031.3_Missense_Mutation_p.A777T			Q9C093	SPEF2_HUMAN	sperm flagellar 2	777					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TCCCTCTCCTGCATTTGATTT	0.368													4	43					0	0	1	0	0	A	35700785	G	A	35700785	3	1	62	1	0	0	0	0	1	0	0	0	15091	1319	46	2	2412	2	SPEF2	5	35700785	Missense_Mutation	SNP	G	TCGA-DH-A66D-01A-11D-A31L-08		35700785	145214475	14	2704											
ARSI	340075	broad.mit.edu	37	5	149677330	149677330	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-A66D-01A-11D-A31L-08	TCGA-DH-A66D-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bbff72-b258-4993-b56f-efcc0402d758	eaa534a9-962f-4807-b35a-a42a5aa30665	g.chr5:149677330G>A	ENST00000328668.7	-	2	1736	c.1157C>T	c.(1156-1158)aCg>aTg	p.T386M		NM_001012301.2	NP_001012301.1	Q5FYB1	ARSI_HUMAN	arylsulfatase family, member I	386						endoplasmic reticulum|extracellular region	arylsulfatase activity|metal ion binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CAGGATCTCCGTGCGTGGTGA	0.647													41	40					0	0	1	0	0	A	149677330	G	A	149677330	3	1	62	1	0	0	0	0	1	0	0	0	993	1145	40	1	556	1	ARSI	5	149677330	Missense_Mutation	SNP	G	TCGA-DH-A66D-01A-11D-A31L-08	113976545	149677330	31237930	15	2705											
RNF44	22838	broad.mit.edu	37	5	175956358	175956358	+	Silent	SNP	C	C	T	rs145628075		TCGA-DH-A66D-01A-11D-A31L-08	TCGA-DH-A66D-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bbff72-b258-4993-b56f-efcc0402d758	eaa534a9-962f-4807-b35a-a42a5aa30665	g.chr5:175956358C>T	ENST00000274811.4	-	10	1691	c.1167G>A	c.(1165-1167)gcG>gcA	p.A389A	RNF44_ENST00000537487.1_Silent_p.A308A	NM_014901.4	NP_055716.1	Q7L0R7	RNF44_HUMAN	ring finger protein 44	389							zinc ion binding			endometrium(2)|lung(3)|prostate(1)|skin(1)|stomach(1)	8	all_cancers(89;0.0029)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCAGCTGCCGCGCCTCGAAGT	0.607													15	58					0	0	1	0	0	T	175956358	C	T	175956358	2	4	62	1	0	0	0	0	0	0	0	1	13548	755	27	1		1	RNF44	5	175956358	Silent	SNP	C	TCGA-DH-A66D-01A-11D-A31L-08	26279028	175956358	4958902	16	2706											
IMPG1	3617	broad.mit.edu	37	6	76640749	76640749	+	Missense_Mutation	SNP	G	G	T			TCGA-DH-A66D-01A-11D-A31L-08	TCGA-DH-A66D-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bbff72-b258-4993-b56f-efcc0402d758	eaa534a9-962f-4807-b35a-a42a5aa30665	g.chr6:76640749G>T	ENST00000369950.3	-	15	2353	c.2164C>A	c.(2164-2166)Ctg>Atg	p.L722M	IMPG1_ENST00000369963.3_3'UTR	NM_001282368.1|NM_001563.2	NP_001269297.1|NP_001554.2	Q17R60	IMPG1_HUMAN	interphotoreceptor matrix proteoglycan 1	722					visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity			breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				AGACCGTCCAGGCTCCCCTGG	0.582													13	71					2.27111e-07	2.42004e-07	1	1	0	T	76640749	G	T	76640749	3	4	62	1	0	0	0	0	1	0	0	0	7772	991	35	4	241	4	IMPG1	6	76640749	Missense_Mutation	SNP	G	TCGA-DH-A66D-01A-11D-A31L-08		76640749	94474318	17	2707											
VGLL2	245806	broad.mit.edu	37	6	117589627	117589627	+	Missense_Mutation	SNP	G	G	C			TCGA-DH-A66D-01A-11D-A31L-08	TCGA-DH-A66D-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bbff72-b258-4993-b56f-efcc0402d758	eaa534a9-962f-4807-b35a-a42a5aa30665	g.chr6:117589627G>C	ENST00000326274.5	+	2	554	c.364G>C	c.(364-366)Gca>Cca	p.A122P	VGLL2_ENST00000352536.3_Missense_Mutation_p.A122P	NM_182645.3	NP_872586.1	Q8N8G2	VGLL2_HUMAN	vestigial like 2 (Drosophila)	122					transcription, DNA-dependent	nucleus				central_nervous_system(1)|kidney(1)|lung(3)	5				GBM - Glioblastoma multiforme(226;0.0254)|all cancers(137;0.0676)|OV - Ovarian serous cystadenocarcinoma(136;0.0757)		CAGCAGCAAAGCACCAAGGAG	0.592													9	35					0	0	1	0	0	C	117589627	G	C	117589627	3	2	62	1	0	0	0	0	1	0	0	0	17219	971	34	4	370	4	VGLL2	6	117589627	Missense_Mutation	SNP	G	TCGA-DH-A66D-01A-11D-A31L-08	40948878	117589627	53525440	18	2708											
SERAC1	84947	broad.mit.edu	37	6	158541488	158541488	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-A66D-01A-11D-A31L-08	TCGA-DH-A66D-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bbff72-b258-4993-b56f-efcc0402d758	eaa534a9-962f-4807-b35a-a42a5aa30665	g.chr6:158541488C>T	ENST00000367102.2	-	11	1276	c.1135G>A	c.(1135-1137)Gta>Ata	p.V379I	SERAC1_ENST00000367104.3_Missense_Mutation_p.V379I|SERAC1_ENST00000367101.1_Missense_Mutation_p.V379I			Q96JX3	SRAC1_HUMAN	serine active site containing 1	379					GPI anchor metabolic process|intracellular protein transport	integral to membrane|intrinsic to endoplasmic reticulum membrane	binding|hydrolase activity, acting on ester bonds			endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	15		Breast(66;0.00519)|Ovarian(120;0.123)|Prostate(117;0.178)		OV - Ovarian serous cystadenocarcinoma(65;1.37e-18)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)		AGCACATATACGCCATCCTGA	0.443													11	89					0	0	1	0	0	T	158541488	C	T	158541488	3	4	62	1	0	0	0	0	1	0	0	0	14128	536	19	1	857	1	SERAC1	6	158541488	Missense_Mutation	SNP	C	TCGA-DH-A66D-01A-11D-A31L-08	40951861	158541488	12573579	19	2709											
CARD11	84433	broad.mit.edu	37	7	2968246	2968246	+	Silent	SNP	G	G	A			TCGA-DH-A66D-01A-11D-A31L-08	TCGA-DH-A66D-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bbff72-b258-4993-b56f-efcc0402d758	eaa534a9-962f-4807-b35a-a42a5aa30665	g.chr7:2968246G>A	ENST00000396946.4	-	13	2143	c.1740C>T	c.(1738-1740)gaC>gaT	p.D580D		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	580					positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		GATGGGGCGCGTCCTCCTTGT	0.657			Mis		DLBCL								64	58					0	0	1	0	0	A	2968246	G	A	2968246	2	1	62	1	0	0	0	0	0	0	0	1	2663	1136	40	1		1	CARD11	7	2968246	Silent	SNP	G	TCGA-DH-A66D-01A-11D-A31L-08		2968246	156170417	20	2710											
ING3	54556	broad.mit.edu	37	7	120604816	120604816	+	Missense_Mutation	SNP	G	G	C			TCGA-DH-A66D-01A-11D-A31L-08	TCGA-DH-A66D-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bbff72-b258-4993-b56f-efcc0402d758	eaa534a9-962f-4807-b35a-a42a5aa30665	g.chr7:120604816G>C	ENST00000315870.5	+	5	436	c.288G>C	c.(286-288)aaG>aaC	p.K96N	ING3_ENST00000431467.1_Missense_Mutation_p.K81N	NM_019071.2	NP_061944.2	Q9NXR8	ING3_HUMAN	inhibitor of growth family, member 3	96					histone H2A acetylation|histone H4 acetylation|positive regulation of apoptosis|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|Piccolo NuA4 histone acetyltransferase complex	zinc ion binding			NS(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	12	all_neural(327;0.117)					ACTTGAGAAAGCTGGATCAGG	0.363													40	53					0	0	1	0	0	C	120604816	G	C	120604816	3	2	62	1	0	0	0	0	1	0	0	0	7781	962	34	4	322	4	ING3	7	120604816	Missense_Mutation	SNP	G	TCGA-DH-A66D-01A-11D-A31L-08	117636570	120604816	38533847	21	2711											
DOCK5	80005	broad.mit.edu	37	8	25232090	25232090	+	Missense_Mutation	SNP	A	A	G			TCGA-DH-A66D-01A-11D-A31L-08	TCGA-DH-A66D-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bbff72-b258-4993-b56f-efcc0402d758	eaa534a9-962f-4807-b35a-a42a5aa30665	g.chr8:25232090A>G	ENST00000276440.7	+	37	3780	c.3736A>G	c.(3736-3738)Aag>Gag	p.K1246E		NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	1246	DHR-2.					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		ATATCTGTACAAGCTTCGAGA	0.463													55	230					0	0	1	0	0	G	25232090	A	G	25232090	3	3	62	1	0	0	0	0	1	0	0	0	4717	131	5	3	3882	3	DOCK5	8	25232090	Missense_Mutation	SNP	A	TCGA-DH-A66D-01A-11D-A31L-08		25232090	121131932	22	2712											
PLAT	5327	broad.mit.edu	37	8	42044968	42044968	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-A66D-01A-11D-A31L-08	TCGA-DH-A66D-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bbff72-b258-4993-b56f-efcc0402d758	eaa534a9-962f-4807-b35a-a42a5aa30665	g.chr8:42044968C>T	ENST00000220809.4	-	6	743	c.487G>A	c.(487-489)Ggg>Agg	p.G163R	PLAT_ENST00000519510.1_Intron|PLAT_ENST00000429089.2_Missense_Mutation_p.G163R|PLAT_ENST00000270189.6_Missense_Mutation_p.G163R|PLAT_ENST00000524009.1_Intron|PLAT_ENST00000429710.2_Intron|PLAT_ENST00000352041.3_Missense_Mutation_p.G117R	NM_000930.3	NP_000921.1	P00750	TPA_HUMAN	plasminogen activator, tissue	163	Kringle 1.				blood coagulation|fibrinolysis|negative regulation of proteolysis|protein modification process|proteolysis	cell surface|cytoplasm|extracellular space	protein binding|serine-type endopeptidase activity	p.G163R(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|skin(1)|soft_tissue(1)|urinary_tract(1)	27	all_cancers(6;3.84e-26)|all_epithelial(6;9.61e-28)|all_lung(13;7.2e-13)|Lung NSC(13;1.18e-11)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000378)|Lung NSC(58;0.00145)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00135)|Colorectal(10;0.00165)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)		Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Iloprost(DB01088)|Reteplase(DB00015)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	GGCCTCCGCCCGCTGTAGGGC	0.652													8	43					0	0	1	0	0	T	42044968	C	T	42044968	3	4	62	1	0	0	0	0	1	0	0	0	12069	652	23	1	1237	1	PLAT	8	42044968	Missense_Mutation	SNP	C	TCGA-DH-A66D-01A-11D-A31L-08	16812878	42044968	104319054	23	2713											
TRIM55	84675	broad.mit.edu	37	8	67047371	67047372	+	Frame_Shift_Del	DEL	AT	AT	-	rs144861717		TCGA-DH-A66D-01A-11D-A31L-08	TCGA-DH-A66D-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bbff72-b258-4993-b56f-efcc0402d758	eaa534a9-962f-4807-b35a-a42a5aa30665	g.chr8:67047371_67047372delAT	ENST00000315962.4	+	3	861_862	c.488_489delAT	c.(487-489)catfs	p.H163fs	TRIM55_ENST00000276573.7_Frame_Shift_Del_p.H163fs|TRIM55_ENST00000353317.5_Frame_Shift_Del_p.H163fs|TRIM55_ENST00000350034.4_Frame_Shift_Del_p.H163fs	NM_184085.1	NP_908973.1	Q9BYV6	TRI55_HUMAN	tripartite motif containing 55	163						cytoplasm|microtubule|nucleus	signal transducer activity|zinc ion binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	39		Lung NSC(129;0.138)|all_lung(136;0.221)	Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)			CCCCTCACTCATGTGTTCCAGA	0.584													17	127	---	---	---	---						-	67047372	AT	-	67047371	7	5	62	1	0	1	0	1	0	0	0	0	16590	217	8	0	498	0	TRIM55	8	67047371	Frame_Shift_Del	DEL	AT	TCGA-DH-A66D-01A-11D-A31L-08	25002403	67047371	79316651	24	2714											
LINGO2	158038	broad.mit.edu	37	9	27949442	27949443	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DH-A66D-01A-11D-A31L-08	TCGA-DH-A66D-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bbff72-b258-4993-b56f-efcc0402d758	eaa534a9-962f-4807-b35a-a42a5aa30665	g.chr9:27949442_27949443insT	ENST00000379992.2	-	6	1676_1677	c.1227_1228insA	c.(1225-1230)aaacccfs	p.P410fs	LINGO2_ENST00000308675.3_Frame_Shift_Ins_p.P410fs	NM_152570.2	NP_689783.1	Q7L985	LIGO2_HUMAN	leucine rich repeat and Ig domain containing 2	410	Ig-like C2-type.					integral to membrane		p.P410T(2)		autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		CGGATTTTGGGTTTTTTGCAGG	0.49													26	111	---	---	---	---						T	27949443	-	T	27949442	7	5	62	1	0	1	1	0	0	0	0	0	8856	1261	44	0	596	0	LINGO2	9	27949442	Frame_Shift_Ins	INS	-	TCGA-DH-A66D-01A-11D-A31L-08		27949442	113263989	25	2715											
FZD8	8325	broad.mit.edu	37	10	35929433	35929433	+	Missense_Mutation	SNP	G	G	T			TCGA-DH-A66D-01A-11D-A31L-08	TCGA-DH-A66D-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bbff72-b258-4993-b56f-efcc0402d758	eaa534a9-962f-4807-b35a-a42a5aa30665	g.chr10:35929433G>T	ENST00000374694.1	-	1	929	c.925C>A	c.(925-927)Ccg>Acg	p.P309T		NM_031866.2	NP_114072.1	Q9H461	FZD8_HUMAN	frizzled family receptor 8	309					axonogenesis|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|T cell differentiation in thymus|vasculature development	cell projection|Golgi apparatus|integral to membrane|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	11						GGCCGCTCCGGGTACTTGAAG	0.627													5	26					0.014758	0.0149886	1	1	0	T	35929433	G	T	35929433	3	4	62	1	0	0	0	0	1	0	0	0	6171	1232	43	5	1163	5	FZD8	10	35929433	Missense_Mutation	SNP	G	TCGA-DH-A66D-01A-11D-A31L-08		35929433	99605314	26	2716											
SORCS1	114815	broad.mit.edu	37	10	108489868	108489868	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-A66D-01A-11D-A31L-08	TCGA-DH-A66D-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bbff72-b258-4993-b56f-efcc0402d758	eaa534a9-962f-4807-b35a-a42a5aa30665	g.chr10:108489868C>T	ENST00000263054.6	-	6	971	c.964G>A	c.(964-966)Gtg>Atg	p.V322M	SORCS1_ENST00000344440.6_Missense_Mutation_p.V322M	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	322						integral to membrane	neuropeptide receptor activity|protein binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		GACCCCATCACAGACCTAAAA	0.403													4	56					0	0	1	0	0	T	108489868	C	T	108489868	3	4	62	1	0	0	0	0	1	0	0	0	14984	478	17	2	2860	2	SORCS1	10	108489868	Missense_Mutation	SNP	C	TCGA-DH-A66D-01A-11D-A31L-08	72560435	108489868	27044879	27	2717											
ACTN3	89	broad.mit.edu	37	11	66321928	66321928	+	RNA	DEL	A	A	-	rs141435934		TCGA-DH-A66D-01A-11D-A31L-08	TCGA-DH-A66D-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bbff72-b258-4993-b56f-efcc0402d758	eaa534a9-962f-4807-b35a-a42a5aa30665	g.chr11:66321928delA	ENST00000513398.1	+	0	566				ACTN3_ENST00000502692.1_RNA	NM_001104.2	NP_001095.1	Q08043	ACTN3_HUMAN	actinin, alpha 3 (gene/pseudogene)						focal adhesion assembly|muscle filament sliding|regulation of apoptosis	actin filament|cytosol|focal adhesion|pseudopodium	actin binding|calcium ion binding|integrin binding|protein homodimerization activity|structural constituent of muscle			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)	10						accctgtctcaaaaaaaaaaa	0.537													2	4	---	---	---	---						-	66321928	A	-	66321928	6	5	62	0	1	1	0	1	0	0	0	0	206	145	5	0		0	ACTN3	11	66321928	RNA	DEL	A	TCGA-DH-A66D-01A-11D-A31L-08		66321928	68684588	28	2718											
RNF121	55298	broad.mit.edu	37	11	71705781	71705781	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-A66D-01A-11D-A31L-08	TCGA-DH-A66D-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bbff72-b258-4993-b56f-efcc0402d758	eaa534a9-962f-4807-b35a-a42a5aa30665	g.chr11:71705781G>A	ENST00000361756.3	+	7	1005	c.644G>A	c.(643-645)gGc>gAc	p.G215D	RNF121_ENST00000545854.1_Missense_Mutation_p.G134D|RNF121_ENST00000490867.1_3'UTR|RNF121_ENST00000533380.1_Missense_Mutation_p.G55D|RNF121_ENST00000530137.1_Missense_Mutation_p.G183D|RNF121_ENST00000393713.3_Intron	NM_018320.4	NP_060790.2	Q9H920	RN121_HUMAN	ring finger protein 121	215						integral to membrane	zinc ion binding			endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|urinary_tract(1)	13						AGCGAGTCGGGCATGCCTACC	0.493													4	185					0	0	1	0	0	A	71705781	G	A	71705781	3	1	62	1	0	0	0	0	1	0	0	0	13483	1203	42	2	670	2	RNF121	11	71705781	Missense_Mutation	SNP	G	TCGA-DH-A66D-01A-11D-A31L-08	5383853	71705781	63300735	29	2719											
EXPH5	23086	broad.mit.edu	37	11	108382992	108382992	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-A66D-01A-11D-A31L-08	TCGA-DH-A66D-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bbff72-b258-4993-b56f-efcc0402d758	eaa534a9-962f-4807-b35a-a42a5aa30665	g.chr11:108382992C>T	ENST00000265843.4	-	6	3352	c.3242G>A	c.(3241-3243)tGt>tAt	p.C1081Y	EXPH5_ENST00000428840.1_Missense_Mutation_p.C1005Y|EXPH5_ENST00000525344.1_Missense_Mutation_p.C1074Y|EXPH5_ENST00000443411.1_Missense_Mutation_p.C893Y	NM_015065.2	NP_055880	Q149M6	Q149M6_HUMAN	exophilin 5	1081					intracellular protein transport		Rab GTPase binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		GACTTTGGAACATTCATTCGC	0.433													4	121					0	0	1	0	0	T	108382992	C	T	108382992	3	4	62	1	0	0	0	0	1	0	0	0	5350	478	17	2	2731	2	EXPH5	11	108382992	Missense_Mutation	SNP	C	TCGA-DH-A66D-01A-11D-A31L-08	36677211	108382992	26623524	30	2720											
UBE4A	9354	broad.mit.edu	37	11	118235895	118235895	+	Missense_Mutation	SNP	G	G	C			TCGA-DH-A66D-01A-11D-A31L-08	TCGA-DH-A66D-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bbff72-b258-4993-b56f-efcc0402d758	eaa534a9-962f-4807-b35a-a42a5aa30665	g.chr11:118235895G>C	ENST00000252108.3	+	2	231	c.100G>C	c.(100-102)Gag>Cag	p.E34Q	UBE4A_ENST00000431736.2_Missense_Mutation_p.E34Q	NM_001204077.1|NM_004788.3	NP_001191006.1|NP_004779.2	Q14139	UBE4A_HUMAN	ubiquitination factor E4A	34					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding			autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(7)|liver(2)|lung(14)|ovary(3)|prostate(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	56	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		AATCCAAAAAGAGCAGCTGAA	0.438													19	9					0	0	1	0	0	C	118235895	G	C	118235895	3	2	62	1	0	0	0	0	1	0	0	0	16943	943	33	4	102	4	UBE4A	11	118235895	Missense_Mutation	SNP	G	TCGA-DH-A66D-01A-11D-A31L-08	9852903	118235895	16770621	31	2721											
MRPL51	51258	broad.mit.edu	37	12	6601513	6601513	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-A66D-01A-11D-A31L-08	TCGA-DH-A66D-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bbff72-b258-4993-b56f-efcc0402d758	eaa534a9-962f-4807-b35a-a42a5aa30665	g.chr12:6601513G>A	ENST00000229238.3	-	3	772	c.311C>T	c.(310-312)gCt>gTt	p.A104V	MRPL51_ENST00000543164.1_5'UTR|MRPL51_ENST00000543703.1_Missense_Mutation_p.A8V	NM_016497.3	NP_057581.2	Q4U2R6	RM51_HUMAN	mitochondrial ribosomal protein L51	104					translation	mitochondrial large ribosomal subunit	protein binding|structural constituent of ribosome			kidney(2)|large_intestine(1)|lung(3)	6						CAGGTCATCAGCGAACATTCT	0.438													12	274					0	0	1	0	0	A	6601513	G	A	6601513	3	1	62	1	0	0	0	0	1	0	0	0	9864	971	34	2	79	2	MRPL51	12	6601513	Missense_Mutation	SNP	G	TCGA-DH-A66D-01A-11D-A31L-08		6601513	127250382	32	2722											
ATP2A2	488	broad.mit.edu	37	12	110760805	110760805	+	Missense_Mutation	SNP	A	A	G			TCGA-DH-A66D-01A-11D-A31L-08	TCGA-DH-A66D-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bbff72-b258-4993-b56f-efcc0402d758	eaa534a9-962f-4807-b35a-a42a5aa30665	g.chr12:110760805A>G	ENST00000308664.6	+	6	1146	c.472A>G	c.(472-474)Aaa>Gaa	p.K158E	ATP2A2_ENST00000539276.2_Missense_Mutation_p.K158E|ATP2A2_ENST00000550248.2_3'UTR|ATP2A2_ENST00000395494.2_Intron	NM_001681.3|NM_170665.3	NP_001672.1|NP_733765.1	P16615	AT2A2_HUMAN	ATPase, Ca++ transporting, cardiac muscle, slow twitch 2	158					ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport	integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|protein C-terminus binding|S100 alpha binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	38						AGTTGGTGACAAAGTTCCTGC	0.313													12	43					0	0	1	0	0	G	110760805	A	G	110760805	3	3	62	1	0	0	0	0	1	0	0	0	1136	131	5	3	494	3	ATP2A2	12	110760805	Missense_Mutation	SNP	A	TCGA-DH-A66D-01A-11D-A31L-08	104159292	110760805	23091090	33	2723											
PCDH20	64881	broad.mit.edu	37	13	61987149	61987149	+	Missense_Mutation	SNP	C	C	G			TCGA-DH-A66D-01A-11D-A31L-08	TCGA-DH-A66D-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bbff72-b258-4993-b56f-efcc0402d758	eaa534a9-962f-4807-b35a-a42a5aa30665	g.chr13:61987149C>G	ENST00000409186.1	-	5	3188	c.1083G>C	c.(1081-1083)caG>caC	p.Q361H	PCDH20_ENST00000409204.4_Missense_Mutation_p.Q361H			Q8N6Y1	PCD20_HUMAN	protocadherin 20	334	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		GTGGAACTTTCTGACTGTAAG	0.433													6	97					0	0	1	0	0	G	61987149	C	G	61987149	3	3	62	1	0	0	0	0	1	0	0	0	11562	912	32	4	1776	4	PCDH20	13	61987149	Missense_Mutation	SNP	C	TCGA-DH-A66D-01A-11D-A31L-08		61987149	53182729	34	2724											
NEO1	4756	broad.mit.edu	37	15	73418883	73418883	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DH-A66D-01A-11D-A31L-08	TCGA-DH-A66D-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bbff72-b258-4993-b56f-efcc0402d758	eaa534a9-962f-4807-b35a-a42a5aa30665	g.chr15:73418883delA	ENST00000339362.5	+	5	1297	c.850delA	c.(850-852)aaafs	p.K284fs	NEO1_ENST00000261908.6_Frame_Shift_Del_p.K284fs|NEO1_ENST00000558964.1_Frame_Shift_Del_p.K284fs|NEO1_ENST00000560262.1_Frame_Shift_Del_p.K284fs			Q92859	NEO1_HUMAN	neogenin 1	284	Ig-like C2-type 3.				axon guidance|cell adhesion|positive regulation of muscle cell differentiation	Golgi apparatus|integral to plasma membrane|nucleus				NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	57						TAAATGGATGAAAAATGAGGA	0.423													11	54	---	---	---	---						-	73418883	A	-	73418883	7	5	62	1	0	1	0	1	0	0	0	0	10383	247	9	0	864	0	NEO1	15	73418883	Frame_Shift_Del	DEL	A	TCGA-DH-A66D-01A-11D-A31L-08		73418883	29112509	35	2725											
TBL3	10607	broad.mit.edu	37	16	2024560	2024560	+	Missense_Mutation	SNP	G	G	C			TCGA-DH-A66D-01A-11D-A31L-08	TCGA-DH-A66D-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bbff72-b258-4993-b56f-efcc0402d758	eaa534a9-962f-4807-b35a-a42a5aa30665	g.chr16:2024560G>C	ENST00000568546.1	+	5	387	c.259G>C	c.(259-261)Gca>Cca	p.A87P		NM_006453.2	NP_006444.2	Q12788	TBL3_HUMAN	transducin (beta)-like 3	87					G-protein signaling, coupled to cGMP nucleotide second messenger|rRNA processing	nucleolus|small-subunit processome	receptor signaling protein activity			breast(1)|endometrium(2)|kidney(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	18						AGCCAGTCGGGCATTGCTGCT	0.657													17	40					0	0	1	0	0	C	2024560	G	C	2024560	3	2	62	1	0	0	0	0	1	0	0	0	15703	1203	42	5	277	5	TBL3	16	2024560	Missense_Mutation	SNP	G	TCGA-DH-A66D-01A-11D-A31L-08		2024560	88330193	36	2726											
WFDC1	58189	broad.mit.edu	37	16	84328689	84328689	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-A66D-01A-11D-A31L-08	TCGA-DH-A66D-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bbff72-b258-4993-b56f-efcc0402d758	eaa534a9-962f-4807-b35a-a42a5aa30665	g.chr16:84328689G>A	ENST00000219454.5	+	1	438	c.112G>A	c.(112-114)Gca>Aca	p.A38T	WFDC1_ENST00000568638.1_Missense_Mutation_p.A38T	NM_001282466.1|NM_001282467.1	NP_001269395.1|NP_001269396.1	Q9HC57	WFDC1_HUMAN	WAP four-disulfide core domain 1	38					negative regulation of cell growth	extracellular space	serine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)	9						CTGGAAACGGGCATTGCCTGC	0.642													5	161					0	0	1	0	0	A	84328689	G	A	84328689	3	1	62	1	0	0	0	0	1	0	0	0	17406	1203	42	2	114	2	WFDC1	16	84328689	Missense_Mutation	SNP	G	TCGA-DH-A66D-01A-11D-A31L-08	82304129	84328689	6026064	37	2727											
SLC7A5	8140	broad.mit.edu	37	16	87870115	87870115	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-A66D-01A-11D-A31L-08	TCGA-DH-A66D-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bbff72-b258-4993-b56f-efcc0402d758	eaa534a9-962f-4807-b35a-a42a5aa30665	g.chr16:87870115G>A	ENST00000261622.4	-	8	1344	c.1279C>T	c.(1279-1281)Cgg>Tgg	p.R427W	SLC7A5_ENST00000565644.1_Missense_Mutation_p.R161W	NM_003486.5	NP_003477.4	Q01650	LAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, L system), member 5	427					blood coagulation|cell differentiation|cellular amino acid metabolic process|ion transport|leukocyte migration|nervous system development	apical plasma membrane|cytosol|integral to membrane	neutral amino acid transmembrane transporter activity|peptide antigen binding			endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(80;0.049)		TTGATGGGCCGCTCAAGCTCA	0.622													3	47					0	0	1	0	0	A	87870115	G	A	87870115	3	1	62	1	0	0	0	0	1	0	0	0	14755	1086	38	1	256	1	SLC7A5	16	87870115	Missense_Mutation	SNP	G	TCGA-DH-A66D-01A-11D-A31L-08	3541426	87870115	2484638	38	2728											
TP53	7157	broad.mit.edu	37	17	7578407	7578407	+	Missense_Mutation	SNP	G	G	C	rs138729528		TCGA-DH-A66D-01A-11D-A31L-08	TCGA-DH-A66D-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bbff72-b258-4993-b56f-efcc0402d758	eaa534a9-962f-4807-b35a-a42a5aa30665	g.chr17:7578407G>C	ENST00000420246.2	-	5	655	c.523C>G	c.(523-525)Cgc>Ggc	p.R175G	TP53_ENST00000455263.2_Missense_Mutation_p.R175G|TP53_ENST00000269305.4_Missense_Mutation_p.R175G|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000359597.4_Missense_Mutation_p.R175G|TP53_ENST00000445888.2_Missense_Mutation_p.R175G|TP53_ENST00000413465.2_Missense_Mutation_p.R175G	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	175	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> C (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; dbSNP:rs28934578).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> 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.R175G(20)|p.R175C(19)|p.0?(8)|p.R175S(5)|p.R43G(3)|p.R174fs*24(3)|p.R82G(3)|p.R175_E180delRCPHHE(3)|p.R43C(2)|p.V173fs*59(2)|p.R174fs*1(2)|p.R82C(2)|p.V157_C176del20(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*5(1)|p.R175fs*6(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R175fs*72(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.S149fs*72(1)|p.R174_E180>K(1)|p.R174fs*3(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)		TGGGGGCAGCGCCTCACAACC	0.657		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)			58	16					0	0	1	0	0	C	7578407	G	C	7578407	3	2	62	1	0	0	0	0	1	0	0	0	16442	1087	38	5	775	5	TP53	17	7578407	Missense_Mutation	SNP	G	TCGA-DH-A66D-01A-11D-A31L-08		7578407	73616803	39	2729											
IGF2BP1	10642	broad.mit.edu	37	17	47126779	47126779	+	Silent	SNP	T	T	C			TCGA-DH-A66D-01A-11D-A31L-08	TCGA-DH-A66D-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bbff72-b258-4993-b56f-efcc0402d758	eaa534a9-962f-4807-b35a-a42a5aa30665	g.chr17:47126779T>C	ENST00000290341.3	+	15	2041	c.1707T>C	c.(1705-1707)agT>agC	p.S569S	IGF2BP1_ENST00000431824.2_Silent_p.S430S	NM_006546.3	NP_006537.3	Q9NZI8	IF2B1_HUMAN	insulin-like growth factor 2 mRNA binding protein 1	569	Necessary for interaction with ELAVL4 and binding to TAU mRNA (By similarity).				CRD-mediated mRNA stabilization|negative regulation of translation|regulation of mRNA stability involved in response to stress	CRD-mediated mRNA stability complex|cytosol|dendritic spine|lamellipodium|nucleus|plasma membrane|stress granule	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						AGGGACAGAGTAACCAGGCCC	0.592													18	34					0	0	1	0	0	C	47126779	T	C	47126779	2	2	62	1	0	0	0	0	0	0	0	1	7617	1635	57	3		3	IGF2BP1	17	47126779	Silent	SNP	T	TCGA-DH-A66D-01A-11D-A31L-08	39548372	47126779	34068431	40	2730											
FTSJ3	117246	broad.mit.edu	37	17	61901235	61901235	+	Missense_Mutation	SNP	G	G	T			TCGA-DH-A66D-01A-11D-A31L-08	TCGA-DH-A66D-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bbff72-b258-4993-b56f-efcc0402d758	eaa534a9-962f-4807-b35a-a42a5aa30665	g.chr17:61901235G>T	ENST00000427159.2	-	13	1877	c.1232C>A	c.(1231-1233)tCc>tAc	p.S411Y		NM_017647.3	NP_060117.3	Q8IY81	RRMJ3_HUMAN	FtsJ homolog 3 (E. coli)	411					RNA methylation|rRNA processing	nucleolus	methyltransferase activity|nucleic acid binding			breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						GTCTGCAATGGAAACCCCAGG	0.572													53	103					1.4374e-25	1.61088e-25	1	1	0	T	61901235	G	T	61901235	3	4	62	1	0	0	0	0	1	0	0	0	6124	1174	41	5	1347	5	FTSJ3	17	61901235	Missense_Mutation	SNP	G	TCGA-DH-A66D-01A-11D-A31L-08	14774456	61901235	19293975	41	2731											
LRRC30	339291	broad.mit.edu	37	18	7231999	7231999	+	Missense_Mutation	SNP	T	T	C			TCGA-DH-A66D-01A-11D-A31L-08	TCGA-DH-A66D-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bbff72-b258-4993-b56f-efcc0402d758	eaa534a9-962f-4807-b35a-a42a5aa30665	g.chr18:7231999T>C	ENST00000383467.2	+	1	877	c.863T>C	c.(862-864)cTg>cCg	p.L288P		NM_001105581.1	NP_001099051.1	A6NM36	LRC30_HUMAN	leucine rich repeat containing 30	288										central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						GAGGGGGGCCTGGAGATGCTC	0.587													127	164					0	0	1	0	0	C	7231999	T	C	7231999	3	2	62	1	0	0	0	0	1	0	0	0	9030	1580	55	3	865	3	LRRC30	18	7231999	Missense_Mutation	SNP	T	TCGA-DH-A66D-01A-11D-A31L-08		7231999	70845249	42	2732											
TWSG1	57045	broad.mit.edu	37	18	9337233	9337234	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DH-A66D-01A-11D-A31L-08	TCGA-DH-A66D-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bbff72-b258-4993-b56f-efcc0402d758	eaa534a9-962f-4807-b35a-a42a5aa30665	g.chr18:9337233_9337234insT	ENST00000262120.5	+	2	197_198	c.6_7insT	c.(7-9)ttafs	p.L3fs	TWSG1_ENST00000581641.1_Frame_Shift_Ins_p.L3fs	NM_020648.5	NP_065699.1	Q9GZX9	TWSG1_HUMAN	twisted gastrulation BMP signaling modulator 1	3										breast(1)|endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|pancreas(2)	10						GAAACATGAAGTTACACTATGT	0.391													9	149	---	---	---	---						T	9337234	-	T	9337233	7	5	62	1	0	1	1	0	0	0	0	0	16847	1020	36	0	8	0	TWSG1	18	9337233	Frame_Shift_Ins	INS	-	TCGA-DH-A66D-01A-11D-A31L-08	2105234	9337233	68740015	43	2733											
B3GNT3	10331	broad.mit.edu	37	19	17918750	17918750	+	Missense_Mutation	SNP	A	A	T			TCGA-DH-A66D-01A-11D-A31L-08	TCGA-DH-A66D-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bbff72-b258-4993-b56f-efcc0402d758	eaa534a9-962f-4807-b35a-a42a5aa30665	g.chr19:17918750A>T	ENST00000318683.6	+	2	281	c.134A>T	c.(133-135)gAg>gTg	p.E45V	B3GNT3_ENST00000595387.1_Missense_Mutation_p.E45V	NM_014256.3	NP_055071.2	Q9Y2A9	B3GN3_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3	45					protein glycosylation	Golgi membrane|integral to plasma membrane	galactosyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	21						GCGATCCCCGAGGCCCTGGCC	0.682													10	41					0	0	1	0	0	T	17918750	A	T	17918750	3	4	62	1	0	0	0	0	1	0	0	0	1256	304	11	5	136	5	B3GNT3	19	17918750	Missense_Mutation	SNP	A	TCGA-DH-A66D-01A-11D-A31L-08		17918750	41210233	44	2734											
ZNF761	388561	broad.mit.edu	37	19	53946133	53946133	+	RNA	DEL	A	A	-	rs35108555		TCGA-DH-A66D-01A-11D-A31L-08	TCGA-DH-A66D-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bbff72-b258-4993-b56f-efcc0402d758	eaa534a9-962f-4807-b35a-a42a5aa30665	g.chr19:53946133delA	ENST00000454407.1	+	0	55				TPM3P9_ENST00000424846.3_RNA			Q86XN6	ZN761_HUMAN	zinc finger protein 761						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		TCATGTTGTGAAAAAAAAAAT	0.348													5	5	---	---	---	---						-	53946133	A	-	53946133	6	5	62	0	1	1	0	1	0	0	0	0	18186	261	9	0		0	ZNF761	19	53946133	RNA	DEL	A	TCGA-DH-A66D-01A-11D-A31L-08	36027383	53946133	5182850	45	2735											
NKX2-2	4821	broad.mit.edu	37	20	21492938	21492938	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DH-A66D-01A-11D-A31L-08	TCGA-DH-A66D-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bbff72-b258-4993-b56f-efcc0402d758	eaa534a9-962f-4807-b35a-a42a5aa30665	g.chr20:21492938G>A	ENST00000377142.4	-	2	801	c.445C>T	c.(445-447)Cag>Tag	p.Q149*	NKX2-2-AS1_ENST00000549659.1_RNA	NM_002509.3	NP_002500.1	O95096	NKX22_HUMAN	NK2 homeobox 2	149					brain development|positive regulation of sequence-specific DNA binding transcription factor activity	nucleus	chromatin binding|core promoter proximal region DNA binding|transcription coactivator activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						TACCGCTGCTGCCGAAAGCGC	0.672													13	22					0	0	1	0	0	A	21492938	G	A	21492938	4	1	62	1	0	0	0	0	0	1	0	0	10497	1328	46	2	380	2	NKX2-2	20	21492938	Nonsense_Mutation	SNP	G	TCGA-DH-A66D-01A-11D-A31L-08		21492938	41532582	46	2736											
MX2	4600	broad.mit.edu	37	21	42749758	42749758	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-A66D-01A-11D-A31L-08	TCGA-DH-A66D-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bbff72-b258-4993-b56f-efcc0402d758	eaa534a9-962f-4807-b35a-a42a5aa30665	g.chr21:42749758C>T	ENST00000330714.3	+	3	476	c.292C>T	c.(292-294)Cgc>Tgc	p.R98C	MX2_ENST00000543692.1_Missense_Mutation_p.R98C	NM_002463.1	NP_002454.1	P20592	MX2_HUMAN	myxovirus (influenza virus) resistance 2 (mouse)	98					response to virus|type I interferon-mediated signaling pathway	cytoplasm|nucleus	GTP binding|GTPase activity			breast(2)|endometrium(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	34		Prostate(19;1.57e-07)|all_epithelial(19;0.0222)				GCAGAAGGTGCGCCCCTGCAT	0.632													4	112					0	0	1	0	0	T	42749758	C	T	42749758	3	4	62	1	0	0	0	0	1	0	0	0	10046	768	27	1	298	1	MX2	21	42749758	Missense_Mutation	SNP	C	TCGA-DH-A66D-01A-11D-A31L-08		42749758	5380137	47	2737											
MCM3AP	8888	broad.mit.edu	37	21	47660773	47660773	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-A66D-01A-11D-A31L-08	TCGA-DH-A66D-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bbff72-b258-4993-b56f-efcc0402d758	eaa534a9-962f-4807-b35a-a42a5aa30665	g.chr21:47660773G>A	ENST00000397708.1	-	27	5839	c.5585C>T	c.(5584-5586)gCg>gTg	p.A1862V	MCM3AP-AS1_ENST00000444998.1_RNA|MCM3AP_ENST00000467026.1_5'UTR|MCM3AP-AS1_ENST00000414659.1_RNA|MCM3AP-AS1_ENST00000588753.1_RNA|MCM3AP-AS1_ENST00000591223.1_RNA|MCM3AP_ENST00000291688.1_Missense_Mutation_p.A1862V|MCM3AP-AS1_ENST00000590829.1_RNA|MCM3AP-AS1_ENST00000421927.1_RNA|MCM3AP-AS1_ENST00000432735.1_RNA|MCM3AP-AS1_ENST00000455567.1_RNA			O60318	MCM3A_HUMAN	minichromosome maintenance complex component 3 associated protein	1862					DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					CAAACACTGCGCCAAGAGCTC	0.512													54	70					0	0	1	0	0	A	47660773	G	A	47660773	3	1	62	1	0	0	0	0	1	0	0	0	9438	1087	38	1	369	1	MCM3AP	21	47660773	Missense_Mutation	SNP	G	TCGA-DH-A66D-01A-11D-A31L-08	4911015	47660773	469122	48	2738											
ARHGAP6	395	broad.mit.edu	37	X	11157494	11157494	+	Missense_Mutation	SNP	G	G	C			TCGA-DH-A66D-01A-11D-A31L-08	TCGA-DH-A66D-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bbff72-b258-4993-b56f-efcc0402d758	eaa534a9-962f-4807-b35a-a42a5aa30665	g.chrX:11157494G>C	ENST00000337414.4	-	13	3286	c.2414C>G	c.(2413-2415)cCc>cGc	p.P805R	ARHGAP6_ENST00000303025.6_Missense_Mutation_p.P602R|ARHGAP6_ENST00000534860.1_Intron|ARHGAP6_ENST00000380736.1_Missense_Mutation_p.P602R	NM_013427.2	NP_038286.2	O43182	RHG06_HUMAN	Rho GTPase activating protein 6	805					actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly|Rho protein signal transduction	actin filament|cytosol	phospholipase activator activity|phospholipase binding|Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						CTCCGTCGCGGGGGCTGCGGC	0.731													9	4					0	0	1	0	0	C	11157494	G	C	11157494	3	2	62	1	0	0	0	0	1	0	0	0	884	1232	43	5	514	5	ARHGAP6	23	11157494	Missense_Mutation	SNP	G	TCGA-DH-A66D-01A-11D-A31L-08		11157494	144113066	49	2739											
MBTPS2	51360	broad.mit.edu	37	X	21886592	21886592	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DH-A66D-01A-11D-A31L-08	TCGA-DH-A66D-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bbff72-b258-4993-b56f-efcc0402d758	eaa534a9-962f-4807-b35a-a42a5aa30665	g.chrX:21886592G>A	ENST00000365779.2	+	6	759	c.678G>A	c.(676-678)tgG>tgA	p.W226*	MBTPS2_ENST00000379484.5_Nonsense_Mutation_p.W226*			O43462	MBTP2_HUMAN	membrane-bound transcription factor peptidase, site 2	226			W -> L (in IFAPS; does not affect subcellular localization; impairs activity).		cholesterol metabolic process|proteolysis	Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity			breast(2)|endometrium(3)|large_intestine(3)|lung(13)|ovary(1)|skin(2)	24						CAGGTATCTGGCATAATTTTG	0.433													8	385					0	0	1	0	0	A	21886592	G	A	21886592	4	1	62	1	0	0	0	0	0	1	0	0	9412	1212	42	2	700	2	MBTPS2	23	21886592	Nonsense_Mutation	SNP	G	TCGA-DH-A66D-01A-11D-A31L-08	10729098	21886592	133383968	50	2740											
MED12	9968	broad.mit.edu	37	X	70357061	70357061	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-A66D-01A-11D-A31L-08	TCGA-DH-A66D-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bbff72-b258-4993-b56f-efcc0402d758	eaa534a9-962f-4807-b35a-a42a5aa30665	g.chrX:70357061G>A	ENST00000333646.6	+	39	5775	c.5576G>A	c.(5575-5577)cGt>cAt	p.R1859H	MED12_ENST00000374080.3_Missense_Mutation_p.R1859H|MED12_ENST00000374102.1_Missense_Mutation_p.R1859H	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN	mediator complex subunit 12	1859	Interaction with CTNNB1 and GLI3.				androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					GACCCATACCGTCCTGTGCGC	0.567			"M, S"		uterine leiomyoma		Opitz-Kaveggia Syndrome						15	51					0	0	1	0	0	A	70357061	G	A	70357061	3	1	62	1	0	0	0	0	1	0	0	0	9478	1145	40	1	5730	1	MED12	23	70357061	Missense_Mutation	SNP	G	TCGA-DH-A66D-01A-11D-A31L-08	48470469	70357061	84913499	51	2741											
ACRC	93953	broad.mit.edu	37	X	70823728	70823728	+	Missense_Mutation	SNP	A	A	T			TCGA-DH-A66D-01A-11D-A31L-08	TCGA-DH-A66D-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bbff72-b258-4993-b56f-efcc0402d758	eaa534a9-962f-4807-b35a-a42a5aa30665	g.chrX:70823728A>T	ENST00000373695.1	+	7	1138	c.601A>T	c.(601-603)Agt>Tgt	p.S201C	ACRC_ENST00000373696.3_Missense_Mutation_p.S201C			Q96QF7	ACRC_HUMAN	acidic repeat containing	201	Asp/Ser-rich.					nucleus				autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1)	54	Renal(35;0.156)					CGACGACAACAGTGATGATTC	0.498													171	252					0	0	1	0	0	T	70823728	A	T	70823728	3	4	62	1	0	0	0	0	1	0	0	0	171	188	7	5	627	5	ACRC	23	70823728	Missense_Mutation	SNP	A	TCGA-DH-A66D-01A-11D-A31L-08	466667	70823728	84446832	52	2742											
ATRX	546	broad.mit.edu	37	X	76939841	76939841	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DH-A66D-01A-11D-A31L-08	TCGA-DH-A66D-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bbff72-b258-4993-b56f-efcc0402d758	eaa534a9-962f-4807-b35a-a42a5aa30665	g.chrX:76939841C>A	ENST00000373344.5	-	9	1121	c.907G>T	c.(907-909)Gaa>Taa	p.E303*	ATRX_ENST00000395603.3_Nonsense_Mutation_p.E265*|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	303					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)	TTACTCTTTTCACTGTCAACT	0.343			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						43	40					1.96642e-18	2.13029e-18	1	1	0	A	76939841	C	A	76939841	4	1	62	1	0	0	0	0	0	1	0	0	1206	835	29	5	6679	5	ATRX	23	76939841	Nonsense_Mutation	SNP	C	TCGA-DH-A66D-01A-11D-A31L-08	6116113	76939841	78330719	53	2743											
CYLC1	1538	broad.mit.edu	37	X	83129568	83129568	+	Missense_Mutation	SNP	T	T	G			TCGA-DH-A66D-01A-11D-A31L-08	TCGA-DH-A66D-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bbff72-b258-4993-b56f-efcc0402d758	eaa534a9-962f-4807-b35a-a42a5aa30665	g.chrX:83129568T>G	ENST00000329312.4	+	4	1889	c.1852T>G	c.(1852-1854)Tca>Gca	p.S618A		NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head cytoskeleton 1	618	Pro-rich.				cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						TTCTCTACCATCACCAAAGGT	0.428													11	84					0	0	1	0	0	G	83129568	T	G	83129568	3	3	62	1	0	0	0	0	1	0	0	0	4164	1435	50	4	1866	4	CYLC1	23	83129568	Missense_Mutation	SNP	T	TCGA-DH-A66D-01A-11D-A31L-08	6189727	83129568	72140992	54	2744											
CXorf57	55086	broad.mit.edu	37	X	105882865	105882865	+	Missense_Mutation	SNP	A	A	T			TCGA-DH-A66D-01A-11D-A31L-08	TCGA-DH-A66D-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bbff72-b258-4993-b56f-efcc0402d758	eaa534a9-962f-4807-b35a-a42a5aa30665	g.chrX:105882865A>T	ENST00000372548.4	+	9	1791	c.1682A>T	c.(1681-1683)tAt>tTt	p.Y561F	CXorf57_ENST00000372544.2_Intron	NM_018015.5	NP_060485.4	Q6NSI4	CX057_HUMAN	chromosome X open reading frame 57	561										NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	31						GCTATAAAGTATATCCCCCAT	0.418													4	141					0	0	1	0	0	T	105882865	A	T	105882865	3	4	62	1	0	0	0	0	1	0	0	0	4136	449	16	4	1716	4	CXorf57	23	105882865	Missense_Mutation	SNP	A	TCGA-DH-A66D-01A-11D-A31L-08	22753297	105882865	49387695	55	2745											
CHRDL1	91851	broad.mit.edu	37	X	109924807	109924807	+	Missense_Mutation	SNP	C	C	G			TCGA-DH-A66D-01A-11D-A31L-08	TCGA-DH-A66D-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bbff72-b258-4993-b56f-efcc0402d758	eaa534a9-962f-4807-b35a-a42a5aa30665	g.chrX:109924807C>G	ENST00000218054.4	-	10	1249	c.1053G>C	c.(1051-1053)gaG>gaC	p.E351D	CHRDL1_ENST00000394797.4_Missense_Mutation_p.E351D|CHRDL1_ENST00000372045.1_Missense_Mutation_p.E345D|CHRDL1_ENST00000434224.1_Missense_Mutation_p.E272D|CHRDL1_ENST00000482160.1_Missense_Mutation_p.E273D|CHRDL1_ENST00000444321.2_Missense_Mutation_p.E352D|CHRDL1_ENST00000372042.1_Missense_Mutation_p.E353D	NM_001143981.1|NM_001143982.1|NM_145234.3	NP_001137453.1|NP_001137454.1|NP_660277.2	Q9BU40	CRDL1_HUMAN	chordin-like 1	345					BMP signaling pathway|cell differentiation|nervous system development|ossification	extracellular region				endometrium(1)|large_intestine(12)|liver(1)|lung(15)|prostate(1)|skin(1)	31						TGAATACAGACTCATACACAG	0.468													4	176					0	0	1	0	0	G	109924807	C	G	109924807	3	3	62	1	0	0	0	0	1	0	0	0	3395	564	20	4	329	4	CHRDL1	23	109924807	Missense_Mutation	SNP	C	TCGA-DH-A66D-01A-11D-A31L-08	4041942	109924807	45345753	56	2746											
THOC2	57187	broad.mit.edu	37	X	122755191	122755191	+	Missense_Mutation	SNP	T	T	C			TCGA-DH-A66D-01A-11D-A31L-08	TCGA-DH-A66D-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bbff72-b258-4993-b56f-efcc0402d758	eaa534a9-962f-4807-b35a-a42a5aa30665	g.chrX:122755191T>C	ENST00000245838.8	-	31	4064	c.4033A>G	c.(4033-4035)Act>Gct	p.T1345A	THOC2_ENST00000491737.1_Missense_Mutation_p.T1230A|THOC2_ENST00000355725.4_Missense_Mutation_p.T1345A	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2	1345	Lys-rich.				intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding			breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						TTGGGGACAGTGGTCTTAAAT	0.378													12	91					0	0	1	0	0	C	122755191	T	C	122755191	3	2	62	1	0	0	0	0	1	0	0	0	15925	1696	59	3	780	3	THOC2	23	122755191	Missense_Mutation	SNP	T	TCGA-DH-A66D-01A-11D-A31L-08	12830384	122755191	32515369	57	2747											
PRG4	10216	broad.mit.edu	37	1	186277366	186277366	+	Missense_Mutation	SNP	C	C	G			TCGA-DH-A66F-01A-11D-A29Q-08	TCGA-DH-A66F-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56c484b6-1c09-4042-aee7-e4daa419fafe	15eb007e-8c8c-473a-b55e-cfa4b7786432	g.chr1:186277366C>G	ENST00000445192.2	+	7	2560	c.2515C>G	c.(2515-2517)Ccc>Gcc	p.P839A	PRG4_ENST00000367485.4_Missense_Mutation_p.P746A|PRG4_ENST00000367483.4_Missense_Mutation_p.P798A|PRG4_ENST00000367486.3_Missense_Mutation_p.P796A|PRG4_ENST00000367484.3_Missense_Mutation_p.P368A	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	839	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						ACCCACTACCCCCAAGAAGCC	0.562													8	501					0	0	1	0	0	G	186277366	C	G	186277366	3	3	63	1	0	0	0	0	1	0	0	0	12533	623	22	5	2537	5	PRG4	1	186277366	Missense_Mutation	SNP	C	TCGA-DH-A66F-01A-11D-A29Q-08		186277366	62973255	1	2748											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-DH-A66F-01A-11D-A29Q-08	TCGA-DH-A66F-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56c484b6-1c09-4042-aee7-e4daa419fafe	15eb007e-8c8c-473a-b55e-cfa4b7786432	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								20	31					0	0	1	0	0	T	209113112	C	T	209113112	3	4	63	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-DH-A66F-01A-11D-A29Q-08		209113112	34086261	2	2749											
ITIH3	3699	broad.mit.edu	37	3	52840399	52840399	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-A66F-01A-11D-A29Q-08	TCGA-DH-A66F-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56c484b6-1c09-4042-aee7-e4daa419fafe	15eb007e-8c8c-473a-b55e-cfa4b7786432	g.chr3:52840399G>A	ENST00000449956.2	+	18	2039	c.2033G>A	c.(2032-2034)cGc>cAc	p.R678H	ITIH3_ENST00000416872.2_Intron	NM_002217.3	NP_002208.3	Q06033	ITIH3_HUMAN	inter-alpha-trypsin inhibitor heavy chain 3	678					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	p.R678H(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(6)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		ACAGTGCTGCGCCTTATTCAG	0.612													13	39					0	0	1	0	0	A	52840399	G	A	52840399	3	1	63	1	0	0	0	0	1	0	0	0	7949	1087	38	1	2103	1	ITIH3	3	52840399	Missense_Mutation	SNP	G	TCGA-DH-A66F-01A-11D-A29Q-08		52840399	145182031	3	2750											
SLC23A1	9963	broad.mit.edu	37	5	138713162	138713162	+	Missense_Mutation	SNP	A	A	G			TCGA-DH-A66F-01A-11D-A29Q-08	TCGA-DH-A66F-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56c484b6-1c09-4042-aee7-e4daa419fafe	15eb007e-8c8c-473a-b55e-cfa4b7786432	g.chr5:138713162A>G	ENST00000353963.3	-	13	1528	c.1490T>C	c.(1489-1491)cTg>cCg	p.L497P	SLC23A1_ENST00000348729.3_Missense_Mutation_p.L493P	NM_152685.3	NP_689898	Q9UHI7	S23A1_HUMAN	solute carrier family 23 (ascorbic acid transporter), member 1	493					brain development|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|response to toxin|transepithelial L-ascorbic acid transport|water-soluble vitamin metabolic process	apical plasma membrane|cytoplasm|integral to plasma membrane|intracellular organelle|membrane fraction	dehydroascorbic acid transporter activity|L-ascorbate:sodium symporter activity|nucleobase transmembrane transporter activity|protein binding|sodium-dependent L-ascorbate transmembrane transporter activity			biliary_tract(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(5)|ovary(1)	19			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		Vitamin C(DB00126)	CAGCACAATCAGAATCTGATC	0.527													22	26					0	0	1	0	0	G	138713162	A	G	138713162	3	3	63	1	0	0	0	0	1	0	0	0	14517	188	7	3	326	3	SLC23A1	5	138713162	Missense_Mutation	SNP	A	TCGA-DH-A66F-01A-11D-A29Q-08		138713162	42202098	4	2751											
LARS	51520	broad.mit.edu	37	5	145512473	145512473	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-A66F-01A-11D-A29Q-08	TCGA-DH-A66F-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56c484b6-1c09-4042-aee7-e4daa419fafe	15eb007e-8c8c-473a-b55e-cfa4b7786432	g.chr5:145512473C>T	ENST00000394434.2	-	23	2550	c.2384G>A	c.(2383-2385)aGa>aAa	p.R795K	LARS_ENST00000545646.1_Missense_Mutation_p.R749K|LARS_ENST00000510191.1_Missense_Mutation_p.R741K|LARS_ENST00000274562.9_Missense_Mutation_p.R768K	NM_020117.9	NP_064502.9	Q9P2J5	SYLC_HUMAN	leucyl-tRNA synthetase	795					leucyl-tRNA aminoacylation	cytosol	ATP binding|leucine-tRNA ligase activity|protein binding			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|skin(2)|stomach(8)	34			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Leucine(DB00149)	GGCAAAAACTCTATCATTGAA	0.403													4	92					0	0	1	0	0	T	145512473	C	T	145512473	3	4	63	1	0	0	0	0	1	0	0	0	8673	913	32	2	1186	2	LARS	5	145512473	Missense_Mutation	SNP	C	TCGA-DH-A66F-01A-11D-A29Q-08	6799311	145512473	35402787	5	2752											
GRIA1	2890	broad.mit.edu	37	5	153190685	153190685	+	Missense_Mutation	SNP	A	A	G			TCGA-DH-A66F-01A-11D-A29Q-08	TCGA-DH-A66F-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56c484b6-1c09-4042-aee7-e4daa419fafe	15eb007e-8c8c-473a-b55e-cfa4b7786432	g.chr5:153190685A>G	ENST00000285900.5	+	16	2964	c.2621A>G	c.(2620-2622)gAg>gGg	p.E874G	GRIA1_ENST00000521843.2_Missense_Mutation_p.E805G|GRIA1_ENST00000518783.1_Missense_Mutation_p.E884G|GRIA1_ENST00000518142.1_Missense_Mutation_p.E794G|GRIA1_ENST00000340592.5_Missense_Mutation_p.E874G|GRIA1_ENST00000448073.4_Missense_Mutation_p.E884G	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	874					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	GGCAGTGGAGAGAATGGTCGG	0.577													4	110					0	0	1	0	0	G	153190685	A	G	153190685	3	3	63	1	0	0	0	0	1	0	0	0	6808	304	11	3	2802	3	GRIA1	5	153190685	Missense_Mutation	SNP	A	TCGA-DH-A66F-01A-11D-A29Q-08	7678212	153190685	27724575	6	2753											
ARID1B	57492	broad.mit.edu	37	6	157495231	157495231	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DH-A66F-01A-11D-A29Q-08	TCGA-DH-A66F-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56c484b6-1c09-4042-aee7-e4daa419fafe	15eb007e-8c8c-473a-b55e-cfa4b7786432	g.chr6:157495231C>T	ENST00000346085.5	+	11	3116	c.3115C>T	c.(3115-3117)Cag>Tag	p.Q1039*	ARID1B_ENST00000367148.1_Nonsense_Mutation_p.Q1026*|ARID1B_ENST00000350026.5_Nonsense_Mutation_p.Q1026*|ARID1B_ENST00000478761.2_3'UTR|ARID1B_ENST00000275248.4_Nonsense_Mutation_p.Q968*	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1026					chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		AGGCACTCCACAGCCCGAGAG	0.522													8	59					0	0	1	0	0	T	157495231	C	T	157495231	4	4	63	1	0	0	0	0	0	1	0	0	911	479	17	2	3157	2	ARID1B	6	157495231	Nonsense_Mutation	SNP	C	TCGA-DH-A66F-01A-11D-A29Q-08		157495231	13619836	7	2754											
FNDC1	84624	broad.mit.edu	37	6	159653415	159653415	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-A66F-01A-11D-A29Q-08	TCGA-DH-A66F-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56c484b6-1c09-4042-aee7-e4daa419fafe	15eb007e-8c8c-473a-b55e-cfa4b7786432	g.chr6:159653415C>T	ENST00000297267.9	+	11	2071	c.1871C>T	c.(1870-1872)gCg>gTg	p.A624V	FNDC1_ENST00000340366.6_Missense_Mutation_p.A561V	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	624						extracellular region				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		GCCCACCACGCGTCCACCCAG	0.667													5	80					0	0	1	0	0	T	159653415	C	T	159653415	3	4	63	1	0	0	0	0	1	0	0	0	6001	768	27	1	1913	1	FNDC1	6	159653415	Missense_Mutation	SNP	C	TCGA-DH-A66F-01A-11D-A29Q-08	2158184	159653415	11461652	8	2755											
LRRC4	64101	broad.mit.edu	37	7	127670472	127670472	+	Silent	SNP	G	G	A			TCGA-DH-A66F-01A-11D-A29Q-08	TCGA-DH-A66F-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56c484b6-1c09-4042-aee7-e4daa419fafe	15eb007e-8c8c-473a-b55e-cfa4b7786432	g.chr7:127670472G>A	ENST00000249363.3	-	2	479	c.222C>T	c.(220-222)ccC>ccT	p.P74P	SND1_ENST00000354725.3_Intron	NM_022143.4	NP_071426.1	Q9HBW1	LRRC4_HUMAN	leucine rich repeat containing 4	74	LRRNT.					cell junction|integral to membrane|postsynaptic membrane				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(4)|pancreas(1)|skin(2)	26				Lung(243;0.124)		GGGTGTTCGAGGGAATACCCT	0.637													4	150					0	0	1	0	0	A	127670472	G	A	127670472	2	1	63	1	0	0	0	0	0	0	0	1	9042	987	35	2		2	LRRC4	7	127670472	Silent	SNP	G	TCGA-DH-A66F-01A-11D-A29Q-08		127670472	31468191	9	2756											
COL15A1	1306	broad.mit.edu	37	9	101832036	101832036	+	Silent	SNP	G	G	A			TCGA-DH-A66F-01A-11D-A29Q-08	TCGA-DH-A66F-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56c484b6-1c09-4042-aee7-e4daa419fafe	15eb007e-8c8c-473a-b55e-cfa4b7786432	g.chr9:101832036G>A	ENST00000375001.3	+	42	4458	c.4035G>A	c.(4033-4035)gcG>gcA	p.A1345A		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	1345	Nonhelical region 10 (NC10).				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				GGCGAACCGCGGACACAGCGG	0.537													70	119					0	0	1	0	0	A	101832036	G	A	101832036	2	1	63	1	0	0	0	0	0	0	0	1	3695	1103	39	1		1	COL15A1	9	101832036	Silent	SNP	G	TCGA-DH-A66F-01A-11D-A29Q-08		101832036	39381395	10	2757											
YME1L1	10730	broad.mit.edu	37	10	27420861	27420861	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-A66F-01A-11D-A29Q-08	TCGA-DH-A66F-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56c484b6-1c09-4042-aee7-e4daa419fafe	15eb007e-8c8c-473a-b55e-cfa4b7786432	g.chr10:27420861C>T	ENST00000326799.3	-	9	1104	c.956G>A	c.(955-957)cGg>cAg	p.R319Q	YME1L1_ENST00000376016.3_Missense_Mutation_p.R262Q|YME1L1_ENST00000375972.3_Missense_Mutation_p.R229Q|YME1L1_ENST00000463270.1_5'UTR	NM_139312.2	NP_647473.1	Q96TA2	YMEL1_HUMAN	YME1-like 1 ATPase	319					protein catabolic process|proteolysis	membrane|mitochondrion	ATP binding|metal ion binding|metalloendopeptidase activity|nucleoside-triphosphatase activity	p.R319L(1)		breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23						TGTTGTTGTCCGGAAGCGGAC	0.373													20	45					0	0	1	0	0	T	27420861	C	T	27420861	3	4	63	1	0	0	0	0	1	0	0	0	17547	652	23	1	1413	1	YME1L1	10	27420861	Missense_Mutation	SNP	C	TCGA-DH-A66F-01A-11D-A29Q-08		27420861	108113886	11	2758											
ASCC1	51008	broad.mit.edu	37	10	73970535	73970535	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DH-A66F-01A-11D-A29Q-08	TCGA-DH-A66F-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56c484b6-1c09-4042-aee7-e4daa419fafe	15eb007e-8c8c-473a-b55e-cfa4b7786432	g.chr10:73970535delG	ENST00000342444.4	-	3	268	c.167delC	c.(166-168)ccafs	p.P56fs	ASCC1_ENST00000545550.1_Frame_Shift_Del_p.P78fs|ASCC1_ENST00000492502.2_5'UTR|ASCC1_ENST00000394919.1_Frame_Shift_Del_p.P56fs|ASCC1_ENST00000317168.6_Frame_Shift_Del_p.P56fs|ASCC1_ENST00000394915.3_Frame_Shift_Del_p.P56fs|ASCC1_ENST00000317126.4_Frame_Shift_Del_p.P56fs	NM_001198799.2	NP_001185728.1	Q8N9N2	ASCC1_HUMAN	activating signal cointegrator 1 complex subunit 1	56					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|transcription factor complex	RNA binding			endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(2)|skin(1)	7						GAATCCTTGTGGGGTCTGCTC	0.527													18	46	---	---	---	---						-	73970535	G	-	73970535	7	5	63	1	0	1	0	1	0	0	0	0	1030	1348	47	0	938	0	ASCC1	10	73970535	Frame_Shift_Del	DEL	G	TCGA-DH-A66F-01A-11D-A29Q-08	46549674	73970535	61564212	12	2759											
DNMBP	23268	broad.mit.edu	37	10	101731881	101731881	+	Translation_Start_Site	SNP	T	T	C			TCGA-DH-A66F-01A-11D-A29Q-08	TCGA-DH-A66F-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56c484b6-1c09-4042-aee7-e4daa419fafe	15eb007e-8c8c-473a-b55e-cfa4b7786432	g.chr10:101731881T>C	ENST00000342239.3	-	2	92	c.1A>G	c.(1-3)Atg>Gtg	p.M1V	DNMBP_ENST00000324109.4_Start_Codon_SNP_p.M1V			Q6XZF7	DNMBP_HUMAN	dynamin binding protein	1					intracellular signal transduction|regulation of Rho protein signal transduction	cell junction|cytoskeleton|Golgi stack|synapse	protein binding|Rho guanyl-nucleotide exchange factor activity			central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		CCAGCCTCCATGTTTTATAAC	0.388													29	46					0	0	1	0	0	C	101731881	T	C	101731881	1	2	63	1	0	0	0	0	0	0	0	0	4701	1464	51	3		3	DNMBP	10	101731881	Translation_Start_Site	SNP	T	TCGA-DH-A66F-01A-11D-A29Q-08	27761346	101731881	33802866	13	2760											
HPS5	11234	broad.mit.edu	37	11	18339305	18339305	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-A66F-01A-11D-A29Q-08	TCGA-DH-A66F-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56c484b6-1c09-4042-aee7-e4daa419fafe	15eb007e-8c8c-473a-b55e-cfa4b7786432	g.chr11:18339305C>T	ENST00000349215.3	-	2	378	c.101G>A	c.(100-102)cGt>cAt	p.R34H	HPS5_ENST00000396253.3_Intron|HPS5_ENST00000438420.2_Intron|HPS5_ENST00000531848.1_Intron	NM_181507.1	NP_852608.1	Q9UPZ3	HPS5_HUMAN	Hermansky-Pudlak syndrome 5	34						cytosol				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						CACCTTTAGACGACTGGAGTC	0.463									Hermansky-Pudlak syndrome				8	12					0	0	1	0	0	T	18339305	C	T	18339305	3	4	63	1	0	0	0	0	1	0	0	0	7383	536	19	1	3376	1	HPS5	11	18339305	Missense_Mutation	SNP	C	TCGA-DH-A66F-01A-11D-A29Q-08		18339305	116667211	14	2761											
PLEKHG6	55200	broad.mit.edu	37	12	6422805	6422805	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-A66F-01A-11D-A29Q-08	TCGA-DH-A66F-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56c484b6-1c09-4042-aee7-e4daa419fafe	15eb007e-8c8c-473a-b55e-cfa4b7786432	g.chr12:6422805G>A	ENST00000449001.2	+	2	547	c.53G>A	c.(52-54)cGc>cAc	p.R18H	PLEKHG6_ENST00000536531.1_Missense_Mutation_p.R50H|PLEKHG6_ENST00000011684.7_Missense_Mutation_p.R50H|PLEKHG6_ENST00000396988.3_Missense_Mutation_p.R50H	NM_001144857.1	NP_001138329.1	Q3KR16	PKHG6_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 6	50					regulation of Rho protein signal transduction	cleavage furrow|cytoplasm|spindle pole	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(4)	23						GATCCCAGTCGCCGACGCCTC	0.637													40	82					0	0	1	0	0	A	6422805	G	A	6422805	3	1	63	1	0	0	0	0	1	0	0	0	12122	1087	38	1	201	1	PLEKHG6	12	6422805	Missense_Mutation	SNP	G	TCGA-DH-A66F-01A-11D-A29Q-08		6422805	127429090	15	2762											
CREBBP	1387	broad.mit.edu	37	16	3832889	3832889	+	Missense_Mutation	SNP	T	T	C			TCGA-DH-A66F-01A-11D-A29Q-08	TCGA-DH-A66F-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56c484b6-1c09-4042-aee7-e4daa419fafe	15eb007e-8c8c-473a-b55e-cfa4b7786432	g.chr16:3832889T>C	ENST00000262367.5	-	6	2178	c.1369A>G	c.(1369-1371)Att>Gtt	p.I457V	CREBBP_ENST00000382070.3_Missense_Mutation_p.I419V	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	457					cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		ACAGAACCAATTGTGTTTTGA	0.488			"T, N, F, Mis, O"	"MLL, MORF, RUNXBP2"	"ALL, AML, DLBCL, B-NHL "		Rubinstein-Taybi syndrome						4	68					0	0	1	0	0	C	3832889	T	C	3832889	3	2	63	1	0	0	0	0	1	0	0	0	3884	1493	52	3	6063	3	CREBBP	16	3832889	Missense_Mutation	SNP	T	TCGA-DH-A66F-01A-11D-A29Q-08		3832889	86521864	16	2763											
SLC6A2	6530	broad.mit.edu	37	16	55735794	55735794	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-A66F-01A-11D-A29Q-08	TCGA-DH-A66F-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56c484b6-1c09-4042-aee7-e4daa419fafe	15eb007e-8c8c-473a-b55e-cfa4b7786432	g.chr16:55735794C>T	ENST00000379906.2	+	13	2033	c.1778C>T	c.(1777-1779)aCg>aTg	p.T593M	SLC6A2_ENST00000567238.1_Missense_Mutation_p.T488M|SLC6A2_ENST00000561820.1_Intron|SLC6A2_ENST00000568943.1_Missense_Mutation_p.T593M|SLC6A2_ENST00000219833.8_Missense_Mutation_p.T593M|SLC6A2_ENST00000566163.1_Missense_Mutation_p.T548M|SLC6A2_ENST00000414754.3_Missense_Mutation_p.T537M	NM_001043.3	NP_001034.1	P23975	SC6A2_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 2	593					synaptic transmission	integral to plasma membrane|membrane fraction	norepinephrine:sodium symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(3)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267)	Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Atomoxetine(DB00289)|Bethanidine(DB00217)|Bupropion(DB01156)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Diethylpropion(DB00937)|Doxepin(DB01142)|Duloxetine(DB00476)|Ergotamine(DB00696)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Maprotiline(DB00934)|Mazindol(DB00579)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)	TATGGCATCACGCCAGAGAAC	0.622											OREG0023807	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	36	82					0	0	1	0	0	T	55735794	C	T	55735794	3	4	63	1	0	0	0	0	1	0	0	0	14738	536	19	1	1919	1	SLC6A2	16	55735794	Missense_Mutation	SNP	C	TCGA-DH-A66F-01A-11D-A29Q-08	51902905	55735794	34618959	17	2764											
FXR2	9513	broad.mit.edu	37	17	7517826	7517826	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DH-A66F-01A-11D-A29Q-08	TCGA-DH-A66F-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56c484b6-1c09-4042-aee7-e4daa419fafe	15eb007e-8c8c-473a-b55e-cfa4b7786432	g.chr17:7517826delC	ENST00000250113.7	-	1	359	c.25delG	c.(25-27)gatfs	p.D9fs	SHBG_ENST00000570547.1_Intron|SHBG_ENST00000574539.1_Intron|SHBG_ENST00000572182.1_Intron|SHBG_ENST00000575314.1_Intron|SHBG_ENST00000576478.1_Intron|SHBG_ENST00000572262.1_Intron|SHBG_ENST00000576728.1_Intron	NM_004860.3	NP_004851.2	P51116	FXR2_HUMAN	fragile X mental retardation, autosomal homolog 2	9						cytosolic large ribosomal subunit	protein binding|RNA binding	p.D9fs*27(1)|p.?(1)		NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)	26				READ - Rectum adenocarcinoma(115;0.17)		GGCTCCACATCCCCCCCAGAG	0.766													2	4	---	---	---	---						-	7517826	C	-	7517826	7	5	63	1	0	1	0	1	0	0	0	0	6151	855	30	0	1964	0	FXR2	17	7517826	Frame_Shift_Del	DEL	C	TCGA-DH-A66F-01A-11D-A29Q-08		7517826	73677384	18	2765											
TRPV2	51393	broad.mit.edu	37	17	16321163	16321163	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DH-A66F-01A-11D-A29Q-08	TCGA-DH-A66F-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56c484b6-1c09-4042-aee7-e4daa419fafe	15eb007e-8c8c-473a-b55e-cfa4b7786432	g.chr17:16321163C>T	ENST00000338560.7	+	2	580	c.181C>T	c.(181-183)Cga>Tga	p.R61*	TRPV2_ENST00000577397.1_5'UTR	NM_016113.4	NP_057197.2	Q9Y5S1	TRPV2_HUMAN	transient receptor potential cation channel, subfamily V, member 2	61	Required for interaction with SLC50A1 (By similarity).				sensory perception	integral to plasma membrane|melanosome	calcium channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|stomach(3)	28				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		CCTCAACTACCGAAAGGGAAC	0.597													13	43					0	0	1	0	0	T	16321163	C	T	16321163	4	4	63	1	0	0	0	0	0	1	0	0	16657	644	23	1	183	1	TRPV2	17	16321163	Nonsense_Mutation	SNP	C	TCGA-DH-A66F-01A-11D-A29Q-08	8803337	16321163	64874047	19	2766											
UNC13D	201294	broad.mit.edu	37	17	73832286	73832286	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-A66F-01A-11D-A29Q-08	TCGA-DH-A66F-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56c484b6-1c09-4042-aee7-e4daa419fafe	15eb007e-8c8c-473a-b55e-cfa4b7786432	g.chr17:73832286C>T	ENST00000207549.4	-	16	1820	c.1441G>A	c.(1441-1443)Gtg>Atg	p.V481M	UNC13D_ENST00000412096.2_Missense_Mutation_p.V481M	NM_199242.2	NP_954712.1	Q70J99	UN13D_HUMAN	unc-13 homolog D (C. elegans)	481	Interaction with RAB27A.				positive regulation of exocytosis|regulation of mast cell degranulation	exocytic vesicle|late endosome|lysosome|membrane|recycling endosome	protein binding			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29			all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154)			CTCACCTGCACCATGGGTTGA	0.667									Familial Hemophagocytic Lymphohistiocytosis				5	27					0	0	1	0	0	T	73832286	C	T	73832286	3	4	63	1	0	0	0	0	1	0	0	0	17047	507	18	2	1899	2	UNC13D	17	73832286	Missense_Mutation	SNP	C	TCGA-DH-A66F-01A-11D-A29Q-08	57511123	73832286	7362924	20	2767											
UNC13A	23025	broad.mit.edu	37	19	17752214	17752214	+	Missense_Mutation	SNP	T	T	C			TCGA-DH-A66F-01A-11D-A29Q-08	TCGA-DH-A66F-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56c484b6-1c09-4042-aee7-e4daa419fafe	15eb007e-8c8c-473a-b55e-cfa4b7786432	g.chr19:17752214T>C	ENST00000428389.2	-	22	2887	c.2888A>G	c.(2887-2889)tAc>tGc	p.Y963C	UNC13A_ENST00000550896.1_Missense_Mutation_p.Y873C|UNC13A_ENST00000252773.7_Missense_Mutation_p.Y875C|UNC13A_ENST00000519716.2_Missense_Mutation_p.Y875C|UNC13A_ENST00000552293.1_Missense_Mutation_p.Y875C|UNC13A_ENST00000551649.1_Missense_Mutation_p.Y875C			Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	875					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						CATGGCTTGGTAGATGGACTC	0.592													24	40					0	0	1	0	0	C	17752214	T	C	17752214	3	2	63	1	0	0	0	0	1	0	0	0	17044	1638	57	3	2579	3	UNC13A	19	17752214	Missense_Mutation	SNP	T	TCGA-DH-A66F-01A-11D-A29Q-08		17752214	41376769	21	2768											
CIC	23152	broad.mit.edu	37	19	42792001	42792001	+	Missense_Mutation	SNP	T	T	C			TCGA-DH-A66F-01A-11D-A29Q-08	TCGA-DH-A66F-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56c484b6-1c09-4042-aee7-e4daa419fafe	15eb007e-8c8c-473a-b55e-cfa4b7786432	g.chr19:42792001T>C	ENST00000572681.2	+	7	3600	c.3532T>C	c.(3532-3534)Tgg>Cgg	p.W1178R	CIC_ENST00000575354.2_Missense_Mutation_p.W269R|CIC_ENST00000160740.3_Missense_Mutation_p.W269R			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	269	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				AGATTGGAAGTGGTGCAACAA	0.632			"Mis, F, S"		oligodendroglioma								6	4					0	0	1	0	0	C	42792001	T	C	42792001	3	2	63	1	0	0	0	0	1	0	0	0	3446	1696	59	3	827	3	CIC	19	42792001	Missense_Mutation	SNP	T	TCGA-DH-A66F-01A-11D-A29Q-08	25039787	42792001	16336982	22	2769											
KIR2DL1	3802	broad.mit.edu	37	19	55285048	55285048	+	Missense_Mutation	SNP	T	T	A			TCGA-DH-A66F-01A-11D-A29Q-08	TCGA-DH-A66F-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56c484b6-1c09-4042-aee7-e4daa419fafe	15eb007e-8c8c-473a-b55e-cfa4b7786432	g.chr19:55285048T>A	ENST00000336077.6	+	3	374	c.334T>A	c.(334-336)Tca>Aca	p.S112T	KIR3DL1_ENST00000541392.1_Intron|CTB-61M7.1_ENST00000400864.3_RNA|KIR2DL1_ENST00000291633.7_Missense_Mutation_p.S112T|KIR3DL1_ENST00000402254.2_Intron|KIR2DL4_ENST00000396284.2_Intron|KIR2DL3_ENST00000434419.2_Intron|KIR3DL1_ENST00000538269.1_Intron	NM_014218.2	NP_055033.2	P43626	KI2L1_HUMAN	killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1	112					immune response|natural killer cell inhibitory signaling pathway	integral to plasma membrane	protein binding|receptor activity			breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	17				GBM - Glioblastoma multiforme(193;0.0192)		CTATCAGGTGTCAGCTCCCAG	0.522													86	113					0	0	1	0	0	A	55285048	T	A	55285048	3	1	63	1	0	0	0	0	1	0	0	0	8359	1667	58	5	344	5	KIR2DL1	19	55285048	Missense_Mutation	SNP	T	TCGA-DH-A66F-01A-11D-A29Q-08	12493047	55285048	3843935	23	2770											
FOXS1	2307	broad.mit.edu	37	20	30432674	30432674	+	Silent	SNP	G	G	A			TCGA-DH-A66F-01A-11D-A29Q-08	TCGA-DH-A66F-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56c484b6-1c09-4042-aee7-e4daa419fafe	15eb007e-8c8c-473a-b55e-cfa4b7786432	g.chr20:30432674G>A	ENST00000375978.3	-	1	746	c.672C>T	c.(670-672)ttC>ttT	p.F224F		NM_004118.3	NP_004109.1	O43638	FOXS1_HUMAN	forkhead box S1	224					anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|insulin receptor signaling pathway|lymphangiogenesis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|neural crest cell fate commitment|neuromuscular process controlling balance|Notch signaling pathway|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of multicellular organism growth|positive regulation of transcription from RNA polymerase II promoter|regulation of blood vessel size|regulation of organ growth|somitogenesis|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	transcription factor complex	chromatin DNA binding|DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			kidney(1)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	9						CAGCCTCTGAGAAGCCGGCAG	0.587													6	85					0	0	1	0	0	A	30432674	G	A	30432674	2	1	63	1	0	0	0	0	0	0	0	1	6069	933	33	2		2	FOXS1	20	30432674	Silent	SNP	G	TCGA-DH-A66F-01A-11D-A29Q-08		30432674	32592846	24	2771											
ZNF335	63925	broad.mit.edu	37	20	44578967	44578967	+	Missense_Mutation	SNP	G	G	C			TCGA-DH-A66F-01A-11D-A29Q-08	TCGA-DH-A66F-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56c484b6-1c09-4042-aee7-e4daa419fafe	15eb007e-8c8c-473a-b55e-cfa4b7786432	g.chr20:44578967G>C	ENST00000322927.2	-	22	3478	c.3378C>G	c.(3376-3378)caC>caG	p.H1126Q	ZNF335_ENST00000426788.1_Missense_Mutation_p.H971Q	NM_022095.3	NP_071378.1	Q9H4Z2	ZN335_HUMAN	zinc finger protein 335	1126					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	51		Myeloproliferative disorder(115;0.0122)				CATCAGGACTGTGCAGCCGCT	0.582													55	73					0	0	1	0	0	C	44578967	G	C	44578967	3	2	63	1	0	0	0	0	1	0	0	0	17909	1368	48	5	678	5	ZNF335	20	44578967	Missense_Mutation	SNP	G	TCGA-DH-A66F-01A-11D-A29Q-08	14146293	44578967	18446553	25	2772											
SYNJ1	8867	broad.mit.edu	37	21	34038343	34038343	+	Silent	SNP	G	G	A			TCGA-DH-A66F-01A-11D-A29Q-08	TCGA-DH-A66F-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56c484b6-1c09-4042-aee7-e4daa419fafe	15eb007e-8c8c-473a-b55e-cfa4b7786432	g.chr21:34038343G>A	ENST00000382499.2	-	17	2171	c.2172C>T	c.(2170-2172)ttC>ttT	p.F724F	SYNJ1_ENST00000382491.3_Silent_p.F680F|SYNJ1_ENST00000433931.2_Silent_p.F724F|SYNJ1_ENST00000322229.7_Silent_p.F685F|SYNJ1_ENST00000357345.3_Silent_p.F685F	NM_203446.2	NP_982271.2	O43426	SYNJ1_HUMAN	synaptojanin 1	685	Catalytic (Potential).						inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						GGCTACAGACGAAGCAAAGGC	0.423													11	21					0	0	1	0	0	A	34038343	G	A	34038343	2	1	63	1	0	0	0	0	0	0	0	1	15509	1049	37	1		1	SYNJ1	21	34038343	Silent	SNP	G	TCGA-DH-A66F-01A-11D-A29Q-08		34038343	14091552	26	2773											
FAM47C	442444	broad.mit.edu	37	X	37028425	37028425	+	Missense_Mutation	SNP	A	A	G	rs145580328	byFrequency	TCGA-DH-A66F-01A-11D-A29Q-08	TCGA-DH-A66F-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56c484b6-1c09-4042-aee7-e4daa419fafe	15eb007e-8c8c-473a-b55e-cfa4b7786432	g.chrX:37028425A>G	ENST00000358047.3	+	1	1994	c.1942A>G	c.(1942-1944)Aat>Gat	p.N648D		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	648								p.N648D(7)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						GGAGCCTCCCAATACTGGAGT	0.642													6	101					0	0	1	0	0	G	37028425	A	G	37028425	3	3	63	1	0	0	0	0	1	0	0	0	5607	130	5	3	1944	3	FAM47C	23	37028425	Missense_Mutation	SNP	A	TCGA-DH-A66F-01A-11D-A29Q-08		37028425	118242135	27	2774											
RERE	473	broad.mit.edu	37	1	8424286	8424286	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-A66G-01A-21D-A31L-08	TCGA-DH-A66G-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a04b1e34-63a2-4af2-9dcf-75c053559bb4	8f36933c-d6f1-4061-a9f8-85fcd0fb88fe	g.chr1:8424286C>T	ENST00000337907.3	-	16	2204	c.1570G>A	c.(1570-1572)Gag>Aag	p.E524K	RERE_ENST00000476556.1_5'UTR|RERE_ENST00000377464.1_Missense_Mutation_p.E256K|RERE_ENST00000400908.2_Missense_Mutation_p.E524K|RERE_ENST00000400907.2_Intron	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	524					multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		AGGATGTTCTCCCGGCCTCCG	0.592													6	111					0	0	1	0	0	T	8424286	C	T	8424286	3	4	64	1	0	0	0	0	1	0	0	0	13283	864	30	2	3166	2	RERE	1	8424286	Missense_Mutation	SNP	C	TCGA-DH-A66G-01A-21D-A31L-08		8424286	240826335	1	2775											
NBPF3	84224	broad.mit.edu	37	1	21795209	21795209	+	Silent	SNP	C	C	T			TCGA-DH-A66G-01A-21D-A31L-08	TCGA-DH-A66G-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a04b1e34-63a2-4af2-9dcf-75c053559bb4	8f36933c-d6f1-4061-a9f8-85fcd0fb88fe	g.chr1:21795209C>T	ENST00000318249.5	+	3	512	c.162C>T	c.(160-162)aaC>aaT	p.N54N	NBPF3_ENST00000454000.2_Intron|NBPF3_ENST00000342104.5_Silent_p.N54N|NBPF3_ENST00000318220.6_5'UTR	NM_032264.3	NP_115640.1	Q9H094	NBPF3_HUMAN	neuroblastoma breakpoint family, member 3	54						cytoplasm				breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	20		all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		CTGCCACAAACGTCAGCATGG	0.512											OREG0013205	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	163					0	0	1	0	0	T	21795209	C	T	21795209	2	4	64	1	0	0	0	0	0	0	0	1	10245	535	19	1		1	NBPF3	1	21795209	Silent	SNP	C	TCGA-DH-A66G-01A-21D-A31L-08	13370923	21795209	227455412	2	2776											
YTHDF2	51441	broad.mit.edu	37	1	29069475	29069475	+	Missense_Mutation	SNP	T	T	G			TCGA-DH-A66G-01A-21D-A31L-08	TCGA-DH-A66G-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a04b1e34-63a2-4af2-9dcf-75c053559bb4	8f36933c-d6f1-4061-a9f8-85fcd0fb88fe	g.chr1:29069475T>G	ENST00000373812.3	+	4	1055	c.693T>G	c.(691-693)atT>atG	p.I231M	YTHDF2_ENST00000478283.1_3'UTR|YTHDF2_ENST00000541996.1_Missense_Mutation_p.I181M|YTHDF2_ENST00000542507.1_Missense_Mutation_p.I231M	NM_016258.2	NP_057342.2	Q9Y5A9	YTHD2_HUMAN	YTH domain family, member 2	231					humoral immune response					NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Colorectal(325;3.46e-05)|Lung NSC(340;0.000601)|all_lung(284;0.000771)|Breast(348;0.00502)|Renal(390;0.00758)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;5.46e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649)		CAGCCACCATTGCTCCTCCAA	0.468													4	167					0	0	1	0	0	G	29069475	T	G	29069475	3	3	64	1	0	0	0	0	1	0	0	0	17559	1800	63	5	707	5	YTHDF2	1	29069475	Missense_Mutation	SNP	T	TCGA-DH-A66G-01A-21D-A31L-08	7274266	29069475	220181146	3	2777											
FLVCR1	28982	broad.mit.edu	37	1	213032327	213032327	+	Missense_Mutation	SNP	T	T	A			TCGA-DH-A66G-01A-21D-A31L-08	TCGA-DH-A66G-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a04b1e34-63a2-4af2-9dcf-75c053559bb4	8f36933c-d6f1-4061-a9f8-85fcd0fb88fe	g.chr1:213032327T>A	ENST00000366971.4	+	1	731	c.533T>A	c.(532-534)cTg>cAg	p.L178Q		NM_014053.3	NP_054772.1	Q9Y5Y0	FLVC1_HUMAN	feline leukemia virus subgroup C cellular receptor 1	178					cell death|cellular iron ion homeostasis|heme export|transmembrane transport	integral to plasma membrane	heme transporter activity|protein binding|receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(2)	12				OV - Ovarian serous cystadenocarcinoma(81;0.00733)|all cancers(67;0.013)|GBM - Glioblastoma multiforme(131;0.0845)|Epithelial(68;0.11)		CTCACCGCCCTGCTGGGCTCC	0.642													26	56					0	0	1	0	0	A	213032327	T	A	213032327	3	1	64	1	0	0	0	0	1	0	0	0	5978	1580	55	5	535	5	FLVCR1	1	213032327	Missense_Mutation	SNP	T	TCGA-DH-A66G-01A-21D-A31L-08	183962852	213032327	36218294	4	2778											
WDR92	116143	broad.mit.edu	37	2	68371826	68371826	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-A66G-01A-21D-A31L-08	TCGA-DH-A66G-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a04b1e34-63a2-4af2-9dcf-75c053559bb4	8f36933c-d6f1-4061-a9f8-85fcd0fb88fe	g.chr2:68371826C>T	ENST00000295121.6	-	3	422	c.306G>A	c.(304-306)atG>atA	p.M102I	WDR92_ENST00000406245.2_Start_Codon_SNP_p.M1I|WDR92_ENST00000492039.2_5'UTR|RP11-474G23.1_ENST00000406334.3_3'UTR|WDR92_ENST00000409164.1_Missense_Mutation_p.M102I	NM_138458.3	NP_612467.1	Q96MX6	WDR92_HUMAN	WD repeat domain 92	102					apoptosis|histone lysine methylation		methylated histone residue binding			endometrium(1)|kidney(3)|large_intestine(4)|lung(3)|stomach(1)	12						AATATACTGGCATCTCTGGAG	0.363													6	90					0	0	1	0	0	T	68371826	C	T	68371826	3	4	64	1	0	0	0	0	1	0	0	0	17399	710	25	2	791	2	WDR92	2	68371826	Missense_Mutation	SNP	C	TCGA-DH-A66G-01A-21D-A31L-08		68371826	174827547	5	2779											
IL1RL2	8808	broad.mit.edu	37	2	102805635	102805635	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-A66G-01A-21D-A31L-08	TCGA-DH-A66G-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a04b1e34-63a2-4af2-9dcf-75c053559bb4	8f36933c-d6f1-4061-a9f8-85fcd0fb88fe	g.chr2:102805635G>A	ENST00000264257.2	+	3	284	c.158G>A	c.(157-159)aGt>aAt	p.S53N	IL1RL2_ENST00000539491.1_Missense_Mutation_p.S53N|IL1RL2_ENST00000481806.1_Intron|IL1RL2_ENST00000441515.2_Intron	NM_003854.2	NP_003845.2	Q9HB29	ILRL2_HUMAN	interleukin 1 receptor-like 2	53	Ig-like C2-type 1.				cellular defense response|innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|liver(2)|lung(8)|ovary(2)|prostate(1)	26						GGGGAAGTCAGTGTAACATGG	0.388													3	57					0	0	1	0	0	A	102805635	G	A	102805635	3	1	64	1	0	0	0	0	1	0	0	0	7708	1029	36	2	164	2	IL1RL2	2	102805635	Missense_Mutation	SNP	G	TCGA-DH-A66G-01A-21D-A31L-08	34433809	102805635	140393738	6	2780											
SCN2A	6326	broad.mit.edu	37	2	166166923	166166923	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-A66G-01A-21D-A31L-08	TCGA-DH-A66G-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a04b1e34-63a2-4af2-9dcf-75c053559bb4	8f36933c-d6f1-4061-a9f8-85fcd0fb88fe	g.chr2:166166923C>T	ENST00000357398.3	+	7	1078	c.788C>T	c.(787-789)gCg>gTg	p.A263V	SCN2A_ENST00000375427.2_Missense_Mutation_p.A263V|SCN2A_ENST00000375437.2_Missense_Mutation_p.A263V|SCN2A_ENST00000283256.6_Missense_Mutation_p.A263V			Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	263			A -> V (in EIEE11).		myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	AGCGTGTTTGCGCTAATAGGA	0.418													4	132					0	0	1	0	0	T	166166923	C	T	166166923	3	4	64	1	0	0	0	0	1	0	0	0	13970	768	27	1	906	1	SCN2A	2	166166923	Missense_Mutation	SNP	C	TCGA-DH-A66G-01A-21D-A31L-08	63361288	166166923	77032450	7	2781											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-DH-A66G-01A-21D-A31L-08	TCGA-DH-A66G-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a04b1e34-63a2-4af2-9dcf-75c053559bb4	8f36933c-d6f1-4061-a9f8-85fcd0fb88fe	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								26	42					0	0	1	0	0	T	209113112	C	T	209113112	3	4	64	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-DH-A66G-01A-21D-A31L-08	42946189	209113112	34086261	8	2782											
PIK3CB	5291	broad.mit.edu	37	3	138474713	138474713	+	Missense_Mutation	SNP	C	C	G			TCGA-DH-A66G-01A-21D-A31L-08	TCGA-DH-A66G-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a04b1e34-63a2-4af2-9dcf-75c053559bb4	8f36933c-d6f1-4061-a9f8-85fcd0fb88fe	g.chr3:138474713C>G	ENST00000477593.1	-	3	353	c.280G>C	c.(280-282)Gat>Cat	p.D94H	PIK3CB_ENST00000289153.2_Missense_Mutation_p.D94H			P42338	PK3CB_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta	94	PI3K-ABD.				activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						CGTGTTTCATCTTCAAGCTCC	0.393													4	89					0	0	1	0	0	G	138474713	C	G	138474713	3	3	64	1	0	0	0	0	1	0	0	0	11962	913	32	4	3014	4	PIK3CB	3	138474713	Missense_Mutation	SNP	C	TCGA-DH-A66G-01A-21D-A31L-08		138474713	59547717	9	2783											
ABCG2	9429	broad.mit.edu	37	4	89060981	89060981	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-A66G-01A-21D-A31L-08	TCGA-DH-A66G-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a04b1e34-63a2-4af2-9dcf-75c053559bb4	8f36933c-d6f1-4061-a9f8-85fcd0fb88fe	g.chr4:89060981C>T	ENST00000237612.3	-	2	712	c.167G>A	c.(166-168)cGa>cAa	p.R56Q	ABCG2_ENST00000515655.1_Missense_Mutation_p.R56Q	NM_004827.2	NP_004818.2	Q9UNQ0	ABCG2_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 2	56	ABC transporter.				cellular iron ion homeostasis|urate metabolic process	integral to membrane|plasma membrane	ATP binding|heme transporter activity|protein homodimerization activity|xenobiotic-transporting ATPase activity			breast(5)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(13)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;7.02e-05)	Imatinib(DB00619)|Mitoxantrone(DB01204)|Nicardipine(DB00622)|Nitrendipine(DB01054)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Topotecan(DB01030)	AACTGGTTTTCGACAAGGTAG	0.358													6	23					0	0	1	0	0	T	89060981	C	T	89060981	3	4	64	1	0	0	0	0	1	0	0	0	69	884	31	1	1860	1	ABCG2	4	89060981	Missense_Mutation	SNP	C	TCGA-DH-A66G-01A-21D-A31L-08		89060981	102093295	10	2784											
ZNF827	152485	broad.mit.edu	37	4	146823889	146823889	+	Silent	SNP	G	G	A			TCGA-DH-A66G-01A-21D-A31L-08	TCGA-DH-A66G-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a04b1e34-63a2-4af2-9dcf-75c053559bb4	8f36933c-d6f1-4061-a9f8-85fcd0fb88fe	g.chr4:146823889G>A	ENST00000508784.1	-	2	749	c.522C>T	c.(520-522)gcC>gcT	p.A174A	ZNF827_ENST00000513320.1_Intron|ZNF827_ENST00000379448.4_Silent_p.A174A			Q17R98	ZN827_HUMAN	zinc finger protein 827	174					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	all_hematologic(180;0.151)					CCTGCTTCTCGGCCAACTTCC	0.532													24	31					0	0	1	0	0	A	146823889	G	A	146823889	2	1	64	1	0	0	0	0	0	0	0	1	18227	1103	39	1		1	ZNF827	4	146823889	Silent	SNP	G	TCGA-DH-A66G-01A-21D-A31L-08	57762908	146823889	44330387	11	2785											
PAPD7	11044	broad.mit.edu	37	5	6738842	6738842	+	Splice_Site	SNP	G	G	A			TCGA-DH-A66G-01A-21D-A31L-08	TCGA-DH-A66G-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a04b1e34-63a2-4af2-9dcf-75c053559bb4	8f36933c-d6f1-4061-a9f8-85fcd0fb88fe	g.chr5:6738842G>A	ENST00000230859.6	+	3	266	c.137G>A	c.(136-138)aGc>aAc	p.S46N		NM_001171805.1|NM_001171806.1|NM_006999.4	NP_001165276.1|NP_001165277.1|NP_008930.1	Q5XG87	PAPD7_HUMAN	PAP associated domain containing 7	46					cell division|DNA replication|double-strand break repair|mitotic chromosome condensation|response to drug|sister chromatid cohesion	nucleus	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|SMC protein binding			cervix(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						CTTCCAACTAGGTGAGTACCA	0.433													30	115					0	0	1	0	0	A	6738842	G	A	6738842	5	1	64	1	0	0	0	0	0	0	1	0	11473	1014	35	2	143	2	PAPD7	5	6738842	Splice_Site	SNP	G	TCGA-DH-A66G-01A-21D-A31L-08		6738842	174176418	12	2786											
PLK2	10769	broad.mit.edu	37	5	57751226	57751226	+	Silent	SNP	G	G	A			TCGA-DH-A66G-01A-21D-A31L-08	TCGA-DH-A66G-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a04b1e34-63a2-4af2-9dcf-75c053559bb4	8f36933c-d6f1-4061-a9f8-85fcd0fb88fe	g.chr5:57751226G>A	ENST00000274289.3	-	12	1941	c.1641C>T	c.(1639-1641)taC>taT	p.Y547Y	PLK2_ENST00000502671.1_Intron	NM_001252226.1|NM_006622.3	NP_001239155.1|NP_006613.2	Q9NYY3	PLK2_HUMAN	polo-like kinase 2	547	POLO box 1.				positive regulation of I-kappaB kinase/NF-kappaB cascade		ATP binding|protein binding|protein serine/threonine kinase activity|signal transducer activity			endometrium(7)|large_intestine(7)|lung(5)|ovary(3)|prostate(2)|skin(2)	26		all_cancers(5;1.76e-12)|all_epithelial(5;2.09e-13)|all_lung(5;6.64e-05)|Lung NSC(5;0.000127)|Prostate(74;0.055)|Breast(144;0.0602)|Ovarian(174;0.182)		OV - Ovarian serous cystadenocarcinoma(10;7.03e-37)		CAAGCTCTGCGTAATAGTGAA	0.378													6	51					0	0	1	0	0	A	57751226	G	A	57751226	2	1	64	1	0	0	0	0	0	0	0	1	12144	1140	40	1		1	PLK2	5	57751226	Silent	SNP	G	TCGA-DH-A66G-01A-21D-A31L-08	51012384	57751226	123164034	13	2787											
SLCO6A1	133482	broad.mit.edu	37	5	101834424	101834424	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-A66G-01A-21D-A31L-08	TCGA-DH-A66G-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a04b1e34-63a2-4af2-9dcf-75c053559bb4	8f36933c-d6f1-4061-a9f8-85fcd0fb88fe	g.chr5:101834424G>A	ENST00000506729.1	-	1	296	c.125C>T	c.(124-126)tCg>tTg	p.S42L	SLCO6A1_ENST00000513675.1_Missense_Mutation_p.S42L|SLCO6A1_ENST00000379807.3_Missense_Mutation_p.S42L|SLCO6A1_ENST00000389019.3_Missense_Mutation_p.S42L|SLCO6A1_ENST00000379810.1_Missense_Mutation_p.S42L			Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family, member 6A1	42						integral to membrane|plasma membrane	transporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		CCCGGGCTTCGAGGACTTCGG	0.577													46	175					0	0	1	0	0	A	101834424	G	A	101834424	3	1	64	1	0	0	0	0	1	0	0	0	14787	1059	37	1	2086	1	SLCO6A1	5	101834424	Missense_Mutation	SNP	G	TCGA-DH-A66G-01A-21D-A31L-08	44083198	101834424	79080836	14	2788											
TRIM41	90933	broad.mit.edu	37	5	180651273	180651273	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-A66G-01A-21D-A31L-08	TCGA-DH-A66G-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a04b1e34-63a2-4af2-9dcf-75c053559bb4	8f36933c-d6f1-4061-a9f8-85fcd0fb88fe	g.chr5:180651273G>A	ENST00000315073.5	+	1	984	c.274G>A	c.(274-276)Gag>Aag	p.E92K	TRIM41_ENST00000351937.5_Missense_Mutation_p.E92K	NM_033549.4	NP_291027.3	Q8WV44	TRI41_HUMAN	tripartite motif containing 41	92	Glu-rich.					cytoplasm|nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(3)|prostate(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	26	all_cancers(89;9.17e-06)|all_epithelial(37;1.19e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.000209)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGAAGACTACGAGGGTGACAT	0.617													9	175					0	0	1	0	0	A	180651273	G	A	180651273	3	1	64	1	0	0	0	0	1	0	0	0	16577	1059	37	1	276	1	TRIM41	5	180651273	Missense_Mutation	SNP	G	TCGA-DH-A66G-01A-21D-A31L-08	78816849	180651273	263987	15	2789											
DST	667	broad.mit.edu	37	6	56323949	56323949	+	Missense_Mutation	SNP	C	C	G			TCGA-DH-A66G-01A-21D-A31L-08	TCGA-DH-A66G-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a04b1e34-63a2-4af2-9dcf-75c053559bb4	8f36933c-d6f1-4061-a9f8-85fcd0fb88fe	g.chr6:56323949C>G	ENST00000370754.5	-	102	23106	c.23107G>C	c.(23107-23109)Gtg>Ctg	p.V7703L	DST_ENST00000370788.2_Missense_Mutation_p.V5328L|DST_ENST00000361203.3_Missense_Mutation_p.V7414L|DST_ENST00000370769.4_Missense_Mutation_p.V7525L|DST_ENST00000244364.6_Missense_Mutation_p.V5124L|DST_ENST00000446842.2_Missense_Mutation_p.V7199L|DST_ENST00000312431.6_3'UTR|DST_ENST00000421834.2_Missense_Mutation_p.V5410L			Q03001	DYST_HUMAN	dystonin	7523					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TCTGAGCACACGGACTGGATT	0.582													3	51					0	0	1	0	0	G	56323949	C	G	56323949	3	3	64	1	0	0	0	0	1	0	0	0	4809	536	19	5	149	5	DST	6	56323949	Missense_Mutation	SNP	C	TCGA-DH-A66G-01A-21D-A31L-08		56323949	114791118	16	2790											
COL19A1	1310	broad.mit.edu	37	6	70866564	70866564	+	Silent	SNP	A	A	G			TCGA-DH-A66G-01A-21D-A31L-08	TCGA-DH-A66G-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a04b1e34-63a2-4af2-9dcf-75c053559bb4	8f36933c-d6f1-4061-a9f8-85fcd0fb88fe	g.chr6:70866564A>G	ENST00000322773.4	+	34	2343	c.2241A>G	c.(2239-2241)ggA>ggG	p.G747G	COL19A1_ENST00000393344.1_Silent_p.G369G	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	747	Triple-helical region 4 (COL4).				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						CTTTTTAGGGAAGCAAAGGAG	0.378													12	22					0	0	1	0	0	G	70866564	A	G	70866564	2	3	64	1	0	0	0	0	0	0	0	1	3699	233	9	3		3	COL19A1	6	70866564	Silent	SNP	A	TCGA-DH-A66G-01A-21D-A31L-08	14542615	70866564	100248503	17	2791											
PDGFRL	5157	broad.mit.edu	37	8	17486008	17486008	+	Missense_Mutation	SNP	T	T	A			TCGA-DH-A66G-01A-21D-A31L-08	TCGA-DH-A66G-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a04b1e34-63a2-4af2-9dcf-75c053559bb4	8f36933c-d6f1-4061-a9f8-85fcd0fb88fe	g.chr8:17486008T>A	ENST00000541323.1	+	5	963	c.518T>A	c.(517-519)cTc>cAc	p.L173H	PDGFRL_ENST00000251630.6_Missense_Mutation_p.L173H|PDGFRL_ENST00000398074.3_Missense_Mutation_p.L173H	NM_006207.2	NP_006198.1	Q15198	PGFRL_HUMAN	platelet-derived growth factor receptor-like	173						extracellular region	platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)	9				Colorectal(111;0.0752)		AAAGGAGAACTCTTTGTACCT	0.498													7	98					0	0	1	0	0	A	17486008	T	A	17486008	3	1	64	1	0	0	0	0	1	0	0	0	11710	1551	54	5	532	5	PDGFRL	8	17486008	Missense_Mutation	SNP	T	TCGA-DH-A66G-01A-21D-A31L-08		17486008	128878014	18	2792											
DOCK5	80005	broad.mit.edu	37	8	25132947	25132947	+	Missense_Mutation	SNP	G	G	C			TCGA-DH-A66G-01A-21D-A31L-08	TCGA-DH-A66G-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a04b1e34-63a2-4af2-9dcf-75c053559bb4	8f36933c-d6f1-4061-a9f8-85fcd0fb88fe	g.chr8:25132947G>C	ENST00000276440.7	+	4	258	c.214G>C	c.(214-216)Gaa>Caa	p.E72Q	DOCK5_ENST00000481100.1_Missense_Mutation_p.E72Q	NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	72						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		GGCAACTGTGGAAGACCTGGG	0.348													11	28					0	0	1	0	0	C	25132947	G	C	25132947	3	2	64	1	0	0	0	0	1	0	0	0	4717	1175	41	5	228	5	DOCK5	8	25132947	Missense_Mutation	SNP	G	TCGA-DH-A66G-01A-21D-A31L-08	7646939	25132947	121231075	19	2793											
SHARPIN	81858	broad.mit.edu	37	8	145154909	145154909	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-A66G-01A-21D-A31L-08	TCGA-DH-A66G-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a04b1e34-63a2-4af2-9dcf-75c053559bb4	8f36933c-d6f1-4061-a9f8-85fcd0fb88fe	g.chr8:145154909G>A	ENST00000398712.2	-	3	876	c.440C>T	c.(439-441)cCc>cTc	p.P147L	SHARPIN_ENST00000533948.1_5'UTR	NM_030974.3	NP_112236.3	Q9H0F6	SHRPN_HUMAN	SHANK-associated RH domain interactor	147	Self-association (By similarity).				negative regulation of inflammatory response|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein linear polyubiquitination|regulation of CD40 signaling pathway|regulation of tumor necrosis factor-mediated signaling pathway	cytosol|LUBAC complex	polyubiquitin binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|lung(2)|ovary(2)	7	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;4.1e-42)|Epithelial(56;1.58e-40)|all cancers(56;6.12e-36)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GGCTTCCGGGGGACTGGGCAG	0.617													9	142					0	0	1	0	0	A	145154909	G	A	145154909	3	1	64	1	0	0	0	0	1	0	0	0	14322	1232	43	2	747	2	SHARPIN	8	145154909	Missense_Mutation	SNP	G	TCGA-DH-A66G-01A-21D-A31L-08	120021962	145154909	1209113	20	2794											
IFNA14	3448	broad.mit.edu	37	9	21239548	21239548	+	Silent	SNP	C	C	T			TCGA-DH-A66G-01A-21D-A31L-08	TCGA-DH-A66G-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a04b1e34-63a2-4af2-9dcf-75c053559bb4	8f36933c-d6f1-4061-a9f8-85fcd0fb88fe	g.chr9:21239548C>T	ENST00000380222.2	-	1	430	c.387G>A	c.(385-387)gtG>gtA	p.V129V		NM_002172.2	NP_002163.2	P01570	IFN14_HUMAN	interferon, alpha 14	129					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(7)	11				Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		GAGTCTCTTCCACCCCAACCT	0.453													87	179					0	0	1	0	0	T	21239548	C	T	21239548	2	4	64	1	0	0	0	0	0	0	0	1	7578	581	21	2		2	IFNA14	9	21239548	Silent	SNP	C	TCGA-DH-A66G-01A-21D-A31L-08		21239548	119973883	21	2795											
EDF1	8721	broad.mit.edu	37	9	139757897	139757897	+	Missense_Mutation	SNP	G	G	T			TCGA-DH-A66G-01A-21D-A31L-08	TCGA-DH-A66G-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a04b1e34-63a2-4af2-9dcf-75c053559bb4	8f36933c-d6f1-4061-a9f8-85fcd0fb88fe	g.chr9:139757897G>T	ENST00000371648.4	-	3	141	c.134C>A	c.(133-135)gCt>gAt	p.A45D	EDF1_ENST00000371649.1_Missense_Mutation_p.A45D|EDF1_ENST00000224073.1_Missense_Mutation_p.A45D	NM_153200.1	NP_694880.1	O60869	EDF1_HUMAN	endothelial differentiation-related factor 1	45	Interaction with NR5A2, PPARG and NR1H3.				endothelial cell differentiation|multicellular organismal development|positive regulation of DNA binding|positive regulation of transcription, DNA-dependent|regulation of lipid metabolic process|transcription, DNA-dependent	cytoplasm|nucleolus|nucleus	calmodulin binding|protein binding|sequence-specific DNA binding|transcription coactivator activity			lung(1)	1	all_cancers(76;0.0841)|all_epithelial(76;0.217)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)		CTGGCCAGCAGCCCCTGGAGT	0.542													3	42					1	1	1	1	0	T	139757897	G	T	139757897	3	4	64	1	0	0	0	0	1	0	0	0	4940	971	34	4	359	4	EDF1	9	139757897	Missense_Mutation	SNP	G	TCGA-DH-A66G-01A-21D-A31L-08	118518349	139757897	1455534	22	2796											
CUBN	8029	broad.mit.edu	37	10	16982104	16982104	+	Silent	SNP	T	T	C			TCGA-DH-A66G-01A-21D-A31L-08	TCGA-DH-A66G-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a04b1e34-63a2-4af2-9dcf-75c053559bb4	8f36933c-d6f1-4061-a9f8-85fcd0fb88fe	g.chr10:16982104T>C	ENST00000377833.4	-	37	5540	c.5475A>G	c.(5473-5475)ggA>ggG	p.G1825G		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	1825	CUB 12.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	ACAGGGTATGTCCAACGATGG	0.473													5	333					0	0	1	0	0	C	16982104	T	C	16982104	2	2	64	1	0	0	0	0	0	0	0	1	4074	1654	58	3		3	CUBN	10	16982104	Silent	SNP	T	TCGA-DH-A66G-01A-21D-A31L-08		16982104	118552643	23	2797											
LCOR	84458	broad.mit.edu	37	10	98715304	98715304	+	Silent	SNP	C	C	T			TCGA-DH-A66G-01A-21D-A31L-08	TCGA-DH-A66G-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a04b1e34-63a2-4af2-9dcf-75c053559bb4	8f36933c-d6f1-4061-a9f8-85fcd0fb88fe	g.chr10:98715304C>T	ENST00000540664.1	+	8	1470	c.927C>T	c.(925-927)ccC>ccT	p.P309P	LCOR_ENST00000371097.4_Silent_p.P309P|LCOR_ENST00000356016.3_Silent_p.P309P|LCOR_ENST00000498444.1_Intron|LCOR_ENST00000371103.3_Silent_p.P309P	NM_001170765.1|NM_001170766.1	NP_001164236.1|NP_001164237.1			ligand dependent nuclear receptor corepressor											endometrium(3)|kidney(1)|large_intestine(3)|lung(1)|ovary(3)|prostate(1)|urinary_tract(1)	13		Colorectal(252;0.162)		Epithelial(162;4.43e-09)|all cancers(201;2.96e-07)		ATGCTGGACCCGATTCTTGGG	0.478													4	52					0	0	1	0	0	T	98715304	C	T	98715304	2	4	64	1	0	0	0	0	0	0	0	1	8728	639	23	1		1	LCOR	10	98715304	Silent	SNP	C	TCGA-DH-A66G-01A-21D-A31L-08	81733200	98715304	36819443	24	2798											
OR52N1	79473	broad.mit.edu	37	11	5809859	5809859	+	Missense_Mutation	SNP	A	A	T			TCGA-DH-A66G-01A-21D-A31L-08	TCGA-DH-A66G-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a04b1e34-63a2-4af2-9dcf-75c053559bb4	8f36933c-d6f1-4061-a9f8-85fcd0fb88fe	g.chr11:5809859A>T	ENST00000317078.1	-	1	187	c.188T>A	c.(187-189)gTc>gAc	p.V63D	TRIM5_ENST00000380027.1_Intron	NM_001001913.1	NP_001001913.1	Q8NH53	O52N1_HUMAN	olfactory receptor, family 52, subfamily N, member 1	63					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(15)|prostate(2)|skin(3)	31		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)		GGCAAGGAAGACATACATAGG	0.448													17	50					0	0	1	0	0	T	5809859	A	T	5809859	3	4	64	1	0	0	0	0	1	0	0	0	11175	275	10	5	777	5	OR52N1	11	5809859	Missense_Mutation	SNP	A	TCGA-DH-A66G-01A-21D-A31L-08		5809859	129196657	25	2799											
OR4C15	81309	broad.mit.edu	37	11	55322005	55322005	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-A66G-01A-21D-A31L-08	TCGA-DH-A66G-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a04b1e34-63a2-4af2-9dcf-75c053559bb4	8f36933c-d6f1-4061-a9f8-85fcd0fb88fe	g.chr11:55322005G>A	ENST00000314644.2	+	1	223	c.223G>A	c.(223-225)Gtt>Att	p.V75I		NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C, member 15	21					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						GAATCCAAATGTTCAGGAAAT	0.408										HNSCC(20;0.049)			6	128					0	0	1	0	0	A	55322005	G	A	55322005	3	1	64	1	0	0	0	0	1	0	0	0	11096	1377	48	2	225	2	OR4C15	11	55322005	Missense_Mutation	SNP	G	TCGA-DH-A66G-01A-21D-A31L-08	49512146	55322005	79684511	26	2800											
LRRC55	219527	broad.mit.edu	37	11	56950115	56950115	+	Missense_Mutation	SNP	C	C	A			TCGA-DH-A66G-01A-21D-A31L-08	TCGA-DH-A66G-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a04b1e34-63a2-4af2-9dcf-75c053559bb4	8f36933c-d6f1-4061-a9f8-85fcd0fb88fe	g.chr11:56950115C>A	ENST00000497933.1	+	1	895	c.748C>A	c.(748-750)Ctg>Atg	p.L250M		NM_001005210.2	NP_001005210.1	Q6ZSA7	LRC55_HUMAN	leucine rich repeat containing 55	220	LRRCT.					integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|skin(2)	25						CATGGAACCCCTGCTGAAGTG	0.622													58	100					2.02796e-37	2.34264e-37	1	1	0	A	56950115	C	A	56950115	3	1	64	1	0	0	0	0	1	0	0	0	9056	680	24	4	750	4	LRRC55	11	56950115	Missense_Mutation	SNP	C	TCGA-DH-A66G-01A-21D-A31L-08	1628110	56950115	78056401	27	2801											
TCIRG1	10312	broad.mit.edu	37	11	67816592	67816592	+	Missense_Mutation	SNP	A	A	G			TCGA-DH-A66G-01A-21D-A31L-08	TCGA-DH-A66G-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a04b1e34-63a2-4af2-9dcf-75c053559bb4	8f36933c-d6f1-4061-a9f8-85fcd0fb88fe	g.chr11:67816592A>G	ENST00000265686.3	+	15	1826	c.1718A>G	c.(1717-1719)gAg>gGg	p.E573G	TCIRG1_ENST00000532635.1_Missense_Mutation_p.E357G	NM_006019.3	NP_006010.2	Q13488	VPP3_HUMAN	T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3	573					ATP hydrolysis coupled proton transport|cellular defense response|cellular iron ion homeostasis|insulin receptor signaling pathway|positive regulation of cell proliferation|transferrin transport	apical plasma membrane|endosome membrane|integral to plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	hydrogen ion transmembrane transporter activity			breast(1)|endometrium(4)|large_intestine(3)|lung(4)|ovary(3)|prostate(1)	16						ACGCTGCCGGAGCTCACCTTC	0.662													10	171					0	0	1	0	0	G	67816592	A	G	67816592	3	3	64	1	0	0	0	0	1	0	0	0	15763	304	11	3	1772	3	TCIRG1	11	67816592	Missense_Mutation	SNP	A	TCGA-DH-A66G-01A-21D-A31L-08	10866477	67816592	67189924	28	2802											
PDE3A	5139	broad.mit.edu	37	12	20801759	20801759	+	Silent	SNP	C	C	T			TCGA-DH-A66G-01A-21D-A31L-08	TCGA-DH-A66G-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a04b1e34-63a2-4af2-9dcf-75c053559bb4	8f36933c-d6f1-4061-a9f8-85fcd0fb88fe	g.chr12:20801759C>T	ENST00000359062.3	+	13	2743	c.2703C>T	c.(2701-2703)gtC>gtT	p.V901V	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	901	Catalytic (By similarity).				lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	GTTTCCTTGTCATTGAAGCAA	0.398													17	37					0	0	1	0	0	T	20801759	C	T	20801759	2	4	64	1	0	0	0	0	0	0	0	1	11684	813	29	2		2	PDE3A	12	20801759	Silent	SNP	C	TCGA-DH-A66G-01A-21D-A31L-08		20801759	113050136	29	2803											
SLCO1B3	28234	broad.mit.edu	37	12	21054391	21054391	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-A66G-01A-21D-A31L-08	TCGA-DH-A66G-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a04b1e34-63a2-4af2-9dcf-75c053559bb4	8f36933c-d6f1-4061-a9f8-85fcd0fb88fe	g.chr12:21054391G>A	ENST00000381545.3	+	15	2074	c.1855G>A	c.(1855-1857)Gta>Ata	p.V619I	SLCO1B3_ENST00000553473.1_Missense_Mutation_p.V619I|SLCO1B3_ENST00000261196.2_Missense_Mutation_p.V619I|LST3_ENST00000381541.3_Intron|LST3_ENST00000540229.1_Missense_Mutation_p.V619I|SLCO1B7_ENST00000554957.1_Intron	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family, member 1B3	619					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)					ATATAATTCCGTATTTTTTGG	0.338													5	80					0	0	1	0	0	A	21054391	G	A	21054391	3	1	64	1	0	0	0	0	1	0	0	0	14779	1145	40	1	1905	1	SLCO1B3	12	21054391	Missense_Mutation	SNP	G	TCGA-DH-A66G-01A-21D-A31L-08	252632	21054391	112797504	30	2804											
NCKAP1L	3071	broad.mit.edu	37	12	54925286	54925286	+	Silent	SNP	G	G	T			TCGA-DH-A66G-01A-21D-A31L-08	TCGA-DH-A66G-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a04b1e34-63a2-4af2-9dcf-75c053559bb4	8f36933c-d6f1-4061-a9f8-85fcd0fb88fe	g.chr12:54925286G>T	ENST00000293373.6	+	24	2695	c.2616G>T	c.(2614-2616)gtG>gtT	p.V872V	NCKAP1L_ENST00000545638.2_Silent_p.V822V	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	872					actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						AGCTGGTGGTGGAAAACATGG	0.498													49	88					2.43277e-16	2.76264e-16	1	1	0	T	54925286	G	T	54925286	2	4	64	1	0	0	0	0	0	0	0	1	10269	1335	47	5		5	NCKAP1L	12	54925286	Silent	SNP	G	TCGA-DH-A66G-01A-21D-A31L-08	33870895	54925286	78926609	31	2805											
KIF5A	3798	broad.mit.edu	37	12	57960998	57960998	+	Splice_Site	SNP	T	T	C			TCGA-DH-A66G-01A-21D-A31L-08	TCGA-DH-A66G-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a04b1e34-63a2-4af2-9dcf-75c053559bb4	8f36933c-d6f1-4061-a9f8-85fcd0fb88fe	g.chr12:57960998T>C	ENST00000455537.2	+	7	863		c.e7+2		KIF5A_ENST00000286452.5_Splice_Site	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN	kinesin family member 5A						blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						CTGTCACCAGTGAGTGAGGAT	0.522													27	48					0	0	1	0	0	C	57960998	T	C	57960998	5	2	64	1	0	0	0	0	0	0	1	0	8347	1710	59	3	617	3	KIF5A	12	57960998	Splice_Site	SNP	T	TCGA-DH-A66G-01A-21D-A31L-08	3035712	57960998	75890897	32	2806											
OR10G3	26533	broad.mit.edu	37	14	22038354	22038354	+	Missense_Mutation	SNP	C	C	A			TCGA-DH-A66G-01A-21D-A31L-08	TCGA-DH-A66G-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a04b1e34-63a2-4af2-9dcf-75c053559bb4	8f36933c-d6f1-4061-a9f8-85fcd0fb88fe	g.chr14:22038354C>A	ENST00000303532.1	-	1	521	c.522G>T	c.(520-522)caG>caT	p.Q174H		NM_001005465.1	NP_001005465.1	Q8NGC4	O10G3_HUMAN	olfactory receptor, family 10, subfamily G, member 3	174					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)	15	all_cancers(95;0.000987)			GBM - Glioblastoma multiforme(265;0.0139)		AGTAATCCACCTGATTGGGCC	0.572													4	196					2.56e-06	2.85867e-06	1	1	0	A	22038354	C	A	22038354	3	1	64	1	0	0	0	0	1	0	0	0	10948	680	24	4	422	4	OR10G3	14	22038354	Missense_Mutation	SNP	C	TCGA-DH-A66G-01A-21D-A31L-08		22038354	85311186	33	2807											
AKAP6	9472	broad.mit.edu	37	14	33291625	33291625	+	Missense_Mutation	SNP	A	A	G			TCGA-DH-A66G-01A-21D-A31L-08	TCGA-DH-A66G-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a04b1e34-63a2-4af2-9dcf-75c053559bb4	8f36933c-d6f1-4061-a9f8-85fcd0fb88fe	g.chr14:33291625A>G	ENST00000280979.4	+	13	4776	c.4606A>G	c.(4606-4608)Atg>Gtg	p.M1536V	AKAP6_ENST00000557272.1_Intron	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	1536					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		ATCTCATGAAATGGATCGCAT	0.358													6	101					0	0	1	0	0	G	33291625	A	G	33291625	3	3	64	1	0	0	0	0	1	0	0	0	452	101	4	3	4652	3	AKAP6	14	33291625	Missense_Mutation	SNP	A	TCGA-DH-A66G-01A-21D-A31L-08	11253271	33291625	74057915	34	2808											
PDILT	204474	broad.mit.edu	37	16	20396116	20396116	+	Missense_Mutation	SNP	T	T	C			TCGA-DH-A66G-01A-21D-A31L-08	TCGA-DH-A66G-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a04b1e34-63a2-4af2-9dcf-75c053559bb4	8f36933c-d6f1-4061-a9f8-85fcd0fb88fe	g.chr16:20396116T>C	ENST00000302451.4	-	3	508	c.260A>G	c.(259-261)gAg>gGg	p.E87G		NM_174924.1	NP_777584.1	Q8N807	PDILT_HUMAN	protein disulfide isomerase-like, testis expressed	87					cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						GCCCATGATCTCCACAGCTTT	0.502													175	292					0	0	1	0	0	C	20396116	T	C	20396116	3	2	64	1	0	0	0	0	1	0	0	0	11721	1551	54	3	1534	3	PDILT	16	20396116	Missense_Mutation	SNP	T	TCGA-DH-A66G-01A-21D-A31L-08		20396116	69958637	35	2809											
SLC12A3	6559	broad.mit.edu	37	16	56913501	56913501	+	Silent	SNP	C	C	A			TCGA-DH-A66G-01A-21D-A31L-08	TCGA-DH-A66G-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a04b1e34-63a2-4af2-9dcf-75c053559bb4	8f36933c-d6f1-4061-a9f8-85fcd0fb88fe	g.chr16:56913501C>A	ENST00000438926.2	+	11	1412	c.1383C>A	c.(1381-1383)atC>atA	p.I461I	SLC12A3_ENST00000262502.5_Silent_p.I460I|SLC12A3_ENST00000563236.1_Silent_p.I461I|SLC12A3_ENST00000566786.1_Silent_p.I460I	NM_000339.2|NM_001126107.1|NM_001126108.1	NP_000330|NP_001119579.1|NP_001119580.1	P55017	S12A3_HUMAN	solute carrier family 12 (sodium/chloride transporter), member 3	461					sodium ion transmembrane transport	apical plasma membrane|integral to plasma membrane|membrane fraction	sodium:chloride symporter activity			breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	CGGCTGGCATCTTCGGGGCCA	0.657													9	58					0.000442599	0.000478293	1	1	0	A	56913501	C	A	56913501	2	1	64	1	0	0	0	0	0	0	0	1	14439	903	32	4		4	SLC12A3	16	56913501	Silent	SNP	C	TCGA-DH-A66G-01A-21D-A31L-08	36517385	56913501	33441252	36	2810											
CDH16	1014	broad.mit.edu	37	16	66943887	66943887	+	Splice_Site	DEL	A	A	-			TCGA-DH-A66G-01A-21D-A31L-08	TCGA-DH-A66G-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a04b1e34-63a2-4af2-9dcf-75c053559bb4	8f36933c-d6f1-4061-a9f8-85fcd0fb88fe	g.chr16:66943887delA	ENST00000299752.4	-	16	2469		c.e16+1		CDH16_ENST00000568632.1_Splice_Site|CDH16_ENST00000394055.3_Splice_Site|CDH16_ENST00000570262.1_Splice_Site|CDH16_ENST00000565796.1_Splice_Site	NM_001204744.1|NM_001204745.1|NM_004062.3	NP_001191673.1|NP_001191674.1|NP_004053.1	O75309	CAD16_HUMAN	cadherin 16, KSP-cadherin						homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)		GCCCAATCTCACCTCGAACCA	0.597													47	151	---	---	---	---						-	66943887	A	-	66943887	8	5	64	1	0	1	0	1	0	0	1	0	3123	173	6	0	224	0	CDH16	16	66943887	Splice_Site	DEL	A	TCGA-DH-A66G-01A-21D-A31L-08	10030386	66943887	23410866	37	2811											
AGRP	181	broad.mit.edu	37	16	67517001	67517001	+	Missense_Mutation	SNP	C	C	A			TCGA-DH-A66G-01A-21D-A31L-08	TCGA-DH-A66G-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a04b1e34-63a2-4af2-9dcf-75c053559bb4	8f36933c-d6f1-4061-a9f8-85fcd0fb88fe	g.chr16:67517001C>A	ENST00000290953.2	-	3	442	c.143G>T	c.(142-144)cGg>cTg	p.R48L	RP11-297D21.4_ENST00000602596.1_RNA	NM_001138.1	NP_001129.1	O00253	AGRP_HUMAN	agouti related protein homolog (mouse)	48					hormone-mediated signaling pathway|neuropeptide signaling pathway|regulation of feeding behavior	extracellular space|Golgi lumen	neuropeptide hormone activity			endometrium(1)	1		Acute lymphoblastic leukemia(13;0.00263)|all_hematologic(13;0.0274)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0717)|Epithelial(162;0.16)		CAGTGGGGCCCGCAGGCCCAG	0.592													4	99					0.0215528	0.022563	1	1	0	A	67517001	C	A	67517001	3	1	64	1	0	0	0	0	1	0	0	0	395	652	23	5	263	5	AGRP	16	67517001	Missense_Mutation	SNP	C	TCGA-DH-A66G-01A-21D-A31L-08	573114	67517001	22837752	38	2812											
PLA2G15	23659	broad.mit.edu	37	16	68288858	68288858	+	Missense_Mutation	SNP	T	T	C			TCGA-DH-A66G-01A-21D-A31L-08	TCGA-DH-A66G-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a04b1e34-63a2-4af2-9dcf-75c053559bb4	8f36933c-d6f1-4061-a9f8-85fcd0fb88fe	g.chr16:68288858T>C	ENST00000413021.2	+	2	287	c.164T>C	c.(163-165)tTc>tCc	p.F55S	PLA2G15_ENST00000219345.5_Silent_p.F107F|PLA2G15_ENST00000566188.1_Silent_p.F107F|PLA2G15_ENST00000444212.2_Intron			Q8NCC3	PAG15_HUMAN	phospholipase A2, group XV	0					fatty acid catabolic process	extracellular region|lysosome	lysophospholipase activity|phosphatidylcholine-sterol O-acyltransferase activity|phospholipid binding			kidney(2)|large_intestine(2)|lung(2)|ovary(2)|prostate(3)|skin(1)	12						CCACCCAGTTTCCTGATGGTG	0.542													4	88					0	0	1	0	0	C	68288858	T	C	68288858	3	2	64	1	0	0	0	0	1	0	0	0	12040	1780	62	3	331	3	PLA2G15	16	68288858	Missense_Mutation	SNP	T	TCGA-DH-A66G-01A-21D-A31L-08	771857	68288858	22065895	39	2813											
TP53	7157	broad.mit.edu	37	17	7578395	7578395	+	Missense_Mutation	SNP	G	G	C			TCGA-DH-A66G-01A-21D-A31L-08	TCGA-DH-A66G-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a04b1e34-63a2-4af2-9dcf-75c053559bb4	8f36933c-d6f1-4061-a9f8-85fcd0fb88fe	g.chr17:7578395G>C	ENST00000420246.2	-	5	667	c.535C>G	c.(535-537)Cat>Gat	p.H179D	TP53_ENST00000359597.4_Missense_Mutation_p.H179D|TP53_ENST00000455263.2_Missense_Mutation_p.H179D|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000445888.2_Missense_Mutation_p.H179D|TP53_ENST00000413465.2_Missense_Mutation_p.H179D|TP53_ENST00000269305.4_Missense_Mutation_p.H179D	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	179	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).|HH -> QS (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.H179Y(98)|p.H179N(16)|p.H179D(13)|p.P177_C182delPHHERC(8)|p.0?(8)|p.H47Y(6)|p.H86Y(6)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H178_S183delHHERCS(3)|p.R175_E180delRCPHHE(3)|p.P177fs*3(2)|p.V173fs*59(2)|p.R174fs*1(2)|p.H179fs*68(1)|p.C176fs*65(1)|p.C176fs*68(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.H179del(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H46_S51delHHERCS(1)|p.H178fs*6(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.H85_S90delHHERCS(1)|p.H47D(1)|p.R174fs*3(1)|p.H86D(1)|p.H178_H179>QY(1)|p.H47N(1)|p.H86N(1)|p.E171fs*61(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)		CAGCGCTCATGGTGGGGGCAG	0.642		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)			46	25					0	0	1	0	0	C	7578395	G	C	7578395	3	2	64	1	0	0	0	0	1	0	0	0	16442	1348	47	5	763	5	TP53	17	7578395	Missense_Mutation	SNP	G	TCGA-DH-A66G-01A-21D-A31L-08		7578395	73616815	40	2814											
CSHL1	1444	broad.mit.edu	37	17	61988150	61988150	+	Missense_Mutation	SNP	G	G	C			TCGA-DH-A66G-01A-21D-A31L-08	TCGA-DH-A66G-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a04b1e34-63a2-4af2-9dcf-75c053559bb4	8f36933c-d6f1-4061-a9f8-85fcd0fb88fe	g.chr17:61988150G>C	ENST00000392824.4	-	2	206	c.145C>G	c.(145-147)Ctg>Gtg	p.L49V	CSHL1_ENST00000309894.5_Missense_Mutation_p.L49V|CSHL1_ENST00000346606.6_Intron|CSHL1_ENST00000561003.1_Intron|CSHL1_ENST00000450719.3_Intron|CSHL1_ENST00000438387.2_Intron|CSHL1_ENST00000259003.10_Intron|CSHL1_ENST00000558099.1_5'UTR			Q14406	CSHL_HUMAN	chorionic somatomammotropin hormone-like 1	49						extracellular region	hormone activity|metal ion binding			endometrium(3)|lung(6)	9						TCAATGGCCAGCTGGTGTGCG	0.572													79	129					0	0	1	0	0	C	61988150	G	C	61988150	3	2	64	1	0	0	0	0	1	0	0	0	3967	962	34	4	539	4	CSHL1	17	61988150	Missense_Mutation	SNP	G	TCGA-DH-A66G-01A-21D-A31L-08	54409755	61988150	19207060	41	2815											
NLRP11	204801	broad.mit.edu	37	19	56303709	56303709	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-A66G-01A-21D-A31L-08	TCGA-DH-A66G-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a04b1e34-63a2-4af2-9dcf-75c053559bb4	8f36933c-d6f1-4061-a9f8-85fcd0fb88fe	g.chr19:56303709G>A	ENST00000443188.1	-	9	3181	c.2471C>T	c.(2470-2472)aCg>aTg	p.T824M	NLRP11_ENST00000589093.1_Missense_Mutation_p.T824M|NLRP11_ENST00000592953.1_Missense_Mutation_p.T725M|NLRP11_ENST00000360133.3_Missense_Mutation_p.T770M|NLRP11_ENST00000589824.2_Missense_Mutation_p.T770M	NM_145007.3	NP_659444.2	P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	824							ATP binding	p.T824M(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		CAAGGGAAACGTCACATGCAA	0.488													4	113					0	0	1	0	0	A	56303709	G	A	56303709	3	1	64	1	0	0	0	0	1	0	0	0	10520	1145	40	1	646	1	NLRP11	19	56303709	Missense_Mutation	SNP	G	TCGA-DH-A66G-01A-21D-A31L-08		56303709	2825274	42	2816											
SLC12A5	57468	broad.mit.edu	37	20	44650446	44650447	+	Frame_Shift_Ins	INS	-	-	C			TCGA-DH-A66G-01A-21D-A31L-08	TCGA-DH-A66G-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a04b1e34-63a2-4af2-9dcf-75c053559bb4	8f36933c-d6f1-4061-a9f8-85fcd0fb88fe	g.chr20:44650446_44650447insC	ENST00000454036.2	+	1	91_92	c.42_43insC	c.(43-45)cccfs	p.P15fs	RP11-465L10.10_ENST00000535913.1_RNA	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5						potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	CCCCCGCAGGGCCCGCCAGAAG	0.723													2	4	---	---	---	---						C	44650447	-	C	44650446	7	5	64	1	0	1	1	0	0	0	0	0	14441	1190	42	0	44	0	SLC12A5	20	44650446	Frame_Shift_Ins	INS	-	TCGA-DH-A66G-01A-21D-A31L-08		44650446	18375074	43	2817											
AP1B1	162	broad.mit.edu	37	22	29727519	29727519	+	Missense_Mutation	SNP	C	C	G			TCGA-DH-A66G-01A-21D-A31L-08	TCGA-DH-A66G-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a04b1e34-63a2-4af2-9dcf-75c053559bb4	8f36933c-d6f1-4061-a9f8-85fcd0fb88fe	g.chr22:29727519C>G	ENST00000357586.2	-	19	2629	c.2443G>C	c.(2443-2445)Gcc>Ccc	p.A815P	AP1B1_ENST00000415447.1_Missense_Mutation_p.A808P|AP1B1_ENST00000405198.1_Missense_Mutation_p.A815P|AP1B1_ENST00000402502.1_Missense_Mutation_p.A808P|AP1B1_ENST00000472057.1_5'UTR|AP1B1_ENST00000432560.2_Missense_Mutation_p.A808P|AP1B1_ENST00000356015.2_Missense_Mutation_p.A808P|AP1B1_ENST00000317368.7_Missense_Mutation_p.A788P	NM_001127.3	NP_001118	Q10567	AP1B1_HUMAN	adaptor-related protein complex 1, beta 1 subunit	815					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding|protein transporter activity			endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						TTCTTCACGGCCACCTAGGCA	0.577													10	155					0	0	1	0	0	G	29727519	C	G	29727519	3	3	64	1	0	0	0	0	1	0	0	0	727	739	26	5	426	5	AP1B1	22	29727519	Missense_Mutation	SNP	C	TCGA-DH-A66G-01A-21D-A31L-08		29727519	21577047	44	2818											
ZFX	7543	broad.mit.edu	37	X	24228669	24228669	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DH-A66G-01A-21D-A31L-08	TCGA-DH-A66G-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a04b1e34-63a2-4af2-9dcf-75c053559bb4	8f36933c-d6f1-4061-a9f8-85fcd0fb88fe	g.chrX:24228669delG	ENST00000379177.1	+	11	2021	c.1594delG	c.(1594-1596)gggfs	p.G532fs	ZFX_ENST00000304543.5_Frame_Shift_Del_p.G532fs|ZFX_ENST00000540034.1_Frame_Shift_Del_p.G571fs|ZFX_ENST00000539115.1_Frame_Shift_Del_p.G303fs|ZFX_ENST00000338565.3_Frame_Shift_Del_p.G482fs|ZFX_ENST00000379188.3_Frame_Shift_Del_p.G532fs	NM_001178085.1|NM_003410.3	NP_001171556.1|NP_003401.2	P17010	ZFX_HUMAN	zinc finger protein, X-linked	532					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|prostate(1)	24						AGCTGAACAAGGGTTATTGAA	0.438													36	87	---	---	---	---						-	24228669	G	-	24228669	7	5	64	1	0	1	0	1	0	0	0	0	17719	1000	35	0	1679	0	ZFX	23	24228669	Frame_Shift_Del	DEL	G	TCGA-DH-A66G-01A-21D-A31L-08		24228669	131041891	45	2819											
FAM47C	442444	broad.mit.edu	37	X	37029041	37029041	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-A66G-01A-21D-A31L-08	TCGA-DH-A66G-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a04b1e34-63a2-4af2-9dcf-75c053559bb4	8f36933c-d6f1-4061-a9f8-85fcd0fb88fe	g.chrX:37029041G>A	ENST00000358047.3	+	1	2610	c.2558G>A	c.(2557-2559)cGt>cAt	p.R853H		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	853										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						AGAAAACTCCGTGACTTCAAG	0.458													10	130					0	0	1	0	0	A	37029041	G	A	37029041	3	1	64	1	0	0	0	0	1	0	0	0	5607	1145	40	1	2560	1	FAM47C	23	37029041	Missense_Mutation	SNP	G	TCGA-DH-A66G-01A-21D-A31L-08	12800372	37029041	118241519	46	2820											
BCOR	54880	broad.mit.edu	37	X	39933903	39933903	+	Silent	SNP	C	C	A			TCGA-DH-A66G-01A-21D-A31L-08	TCGA-DH-A66G-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a04b1e34-63a2-4af2-9dcf-75c053559bb4	8f36933c-d6f1-4061-a9f8-85fcd0fb88fe	g.chrX:39933903C>A	ENST00000342274.4	-	4	1058	c.696G>T	c.(694-696)ccG>ccT	p.P232P	BCOR_ENST00000378444.4_Silent_p.P232P|BCOR_ENST00000378455.4_Silent_p.P232P|BCOR_ENST00000397354.3_Silent_p.P232P	NM_001123383.1	NP_001116855.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	232					heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						GAGAATACAGCGGCTGGGCCA	0.562			"F, N, S, T"	RARA	"retinoblastoma, AML, APL(translocation)"		oculo-facio-cardio-dental genetic						4	79					0.000602214	0.00064045	1	1	0	A	39933903	C	A	39933903	2	1	64	1	0	0	0	0	0	0	0	1	1384	755	27	5		5	BCOR	23	39933903	Silent	SNP	C	TCGA-DH-A66G-01A-21D-A31L-08	2904862	39933903	115336657	47	2821											
ATRX	546	broad.mit.edu	37	X	76875862	76875865	+	Splice_Site	DEL	CACT	CACT	-	rs141240580		TCGA-DH-A66G-01A-21D-A31L-08	TCGA-DH-A66G-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a04b1e34-63a2-4af2-9dcf-75c053559bb4	8f36933c-d6f1-4061-a9f8-85fcd0fb88fe	g.chrX:76875862_76875865delCACT	ENST00000373344.5	-	20	5484_5487	c.5270_5273delAGTG	c.(5269-5274)gagtgt>gt	p.EC1757fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Splice_Site_p.EC1719fs	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1757	Helicase ATP-binding.				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.?(2)		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)	TATTAACTCACACTCAATTAGGTT	0.309			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						8	43	---	---	---	---						-	76875865	CACT	-	76875862	8	5	64	1	0	1	0	1	0	0	1	0	1206	492	17	0	2269	0	ATRX	23	76875862	Splice_Site	DEL	CACT	TCGA-DH-A66G-01A-21D-A31L-08	36941959	76875862	78394698	48	2822											
DOCK11	139818	broad.mit.edu	37	X	117700016	117700016	+	Missense_Mutation	SNP	T	T	A			TCGA-DH-A66G-01A-21D-A31L-08	TCGA-DH-A66G-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a04b1e34-63a2-4af2-9dcf-75c053559bb4	8f36933c-d6f1-4061-a9f8-85fcd0fb88fe	g.chrX:117700016T>A	ENST00000276204.6	+	8	816	c.742T>A	c.(742-744)Tat>Aat	p.Y248N	DOCK11_ENST00000276202.7_Missense_Mutation_p.Y248N			Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	248	PH.				blood coagulation	cytosol	GTP binding			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						GTTAGATAAATATAGCCATTA	0.378													5	192					0	0	1	0	0	A	117700016	T	A	117700016	3	1	64	1	0	0	0	0	1	0	0	0	4713	1406	49	4	772	4	DOCK11	23	117700016	Missense_Mutation	SNP	T	TCGA-DH-A66G-01A-21D-A31L-08	40824154	117700016	37570544	49	2823											
USP26	83844	broad.mit.edu	37	X	132160726	132160726	+	Missense_Mutation	SNP	T	T	C			TCGA-DH-A66G-01A-21D-A31L-08	TCGA-DH-A66G-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a04b1e34-63a2-4af2-9dcf-75c053559bb4	8f36933c-d6f1-4061-a9f8-85fcd0fb88fe	g.chrX:132160726T>C	ENST00000511190.1	-	6	1992	c.1523A>G	c.(1522-1524)cAc>cGc	p.H508R	USP26_ENST00000406273.1_Missense_Mutation_p.H508R|USP26_ENST00000370832.1_Missense_Mutation_p.H508R	NM_031907.1	NP_114113.1	Q9BXU7	UBP26_HUMAN	ubiquitin specific peptidase 26	508					protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60	Acute lymphoblastic leukemia(192;0.000127)					ACTGAATGAGTGCACTCCAAC	0.383													96	150					0	0	1	0	0	C	132160726	T	C	132160726	3	2	64	1	0	0	0	0	1	0	0	0	17117	1696	59	3	1221	3	USP26	23	132160726	Missense_Mutation	SNP	T	TCGA-DH-A66G-01A-21D-A31L-08	14460710	132160726	23109834	50	2824											
ARHGEF6	9459	broad.mit.edu	37	X	135750295	135750295	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-A66G-01A-21D-A31L-08	TCGA-DH-A66G-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a04b1e34-63a2-4af2-9dcf-75c053559bb4	8f36933c-d6f1-4061-a9f8-85fcd0fb88fe	g.chrX:135750295C>T	ENST00000250617.6	-	22	3429	c.2224G>A	c.(2224-2226)Gaa>Aaa	p.E742K	ARHGEF6_ENST00000370622.1_Missense_Mutation_p.E588K|ARHGEF6_ENST00000370620.1_Missense_Mutation_p.E588K|ARHGEF6_ENST00000535227.1_Missense_Mutation_p.E615K	NM_004840.2	NP_004831.1	Q15052	ARHG6_HUMAN	Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6	742					apoptosis|cell junction assembly|induction of apoptosis by extracellular signals|JNK cascade|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(1)|lung(14)|prostate(1)	38	Acute lymphoblastic leukemia(192;0.000127)					GATTTCAGTTCTTCTTCCAGG	0.458													5	118					0	0	1	0	0	T	135750295	C	T	135750295	3	4	64	1	0	0	0	0	1	0	0	0	907	922	32	2	110	2	ARHGEF6	23	135750295	Missense_Mutation	SNP	C	TCGA-DH-A66G-01A-21D-A31L-08	3589569	135750295	19520265	51	2825											
SLITRK2	84631	broad.mit.edu	37	X	144905825	144905825	+	Missense_Mutation	SNP	G	G	T			TCGA-DH-A66G-01A-21D-A31L-08	TCGA-DH-A66G-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a04b1e34-63a2-4af2-9dcf-75c053559bb4	8f36933c-d6f1-4061-a9f8-85fcd0fb88fe	g.chrX:144905825G>T	ENST00000370490.1	+	1	6137	c.1882G>T	c.(1882-1884)Gtt>Ttt	p.V628F	SLITRK2_ENST00000434188.2_Missense_Mutation_p.V628F|SLITRK2_ENST00000447897.2_Missense_Mutation_p.V628F|SLITRK2_ENST00000428560.2_Missense_Mutation_p.V628F|SLITRK2_ENST00000413937.2_Missense_Mutation_p.V628F			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	628						integral to membrane		p.V628L(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					ATTGCTTGTTGTTTTCATCTT	0.453													6	94					3.59834e-05	3.95227e-05	1	1	0	T	144905825	G	T	144905825	3	4	64	1	0	0	0	0	1	0	0	0	14797	1377	48	5	1884	5	SLITRK2	23	144905825	Missense_Mutation	SNP	G	TCGA-DH-A66G-01A-21D-A31L-08	9155530	144905825	10364735	52	2826											
F8	2157	broad.mit.edu	37	X	154132780	154132780	+	Missense_Mutation	SNP	C	C	A			TCGA-DH-A66G-01A-21D-A31L-08	TCGA-DH-A66G-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a04b1e34-63a2-4af2-9dcf-75c053559bb4	8f36933c-d6f1-4061-a9f8-85fcd0fb88fe	g.chrX:154132780C>A	ENST00000360256.4	-	17	5806	c.5606G>T	c.(5605-5607)gGc>gTc	p.G1869V		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	1869	F5/8 type A 3.|Plastocyanin-like 5.		G -> D (in HEMA; severe).|G -> V (in HEMA; severe).		acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	TCCAATCAGGCCTGAGTGCAC	0.448													4	106					0.150653	0.152936	1	1	0	A	154132780	C	A	154132780	3	1	64	1	0	0	0	0	1	0	0	0	5378	739	26	5	1517	5	F8	23	154132780	Missense_Mutation	SNP	C	TCGA-DH-A66G-01A-21D-A31L-08	9226955	154132780	1137780	53	2827	10	2									
F8	2157	broad.mit.edu	37	X	154132781	154132781	+	Missense_Mutation	SNP	C	C	A			TCGA-DH-A66G-01A-21D-A31L-08	TCGA-DH-A66G-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a04b1e34-63a2-4af2-9dcf-75c053559bb4	8f36933c-d6f1-4061-a9f8-85fcd0fb88fe	g.chrX:154132781C>A	ENST00000360256.4	-	17	5805	c.5605G>T	c.(5605-5607)Ggc>Tgc	p.G1869C		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	1869	F5/8 type A 3.|Plastocyanin-like 5.		G -> D (in HEMA; severe).|G -> V (in HEMA; severe).		acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	CCAATCAGGCCTGAGTGCACA	0.453													4	105					0.150653	0.152936	1	1	0	A	154132781	C	A	154132781	3	1	64	1	0	0	0	0	1	0	0	0	5378	681	24	4	1518	4	F8	23	154132781	Missense_Mutation	SNP	C	TCGA-DH-A66G-01A-21D-A31L-08	1	154132781	1137779	54	2828	10	2									
PARK7	11315	broad.mit.edu	37	1	8037767	8037767	+	Silent	SNP	C	C	T			TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chr1:8037767C>T	ENST00000493678.1	+	6	445	c.378C>T	c.(376-378)caC>caT	p.H126H	PARK7_ENST00000377493.5_Silent_p.H106H|PARK7_ENST00000377491.1_Silent_p.H126H|PARK7_ENST00000377488.1_Silent_p.H126H|PARK7_ENST00000338639.5_Silent_p.H126H			Q99497	PARK7_HUMAN	parkinson protein 7	126					autophagy|cell death|cellular response to hydrogen peroxide|inflammatory response|mitochondrion organization|negative regulation of cell death|negative regulation of protein binding|neuroprotection|protein stabilization|regulation of androgen receptor signaling pathway|regulation of inflammatory response|single fertilization	mitochondrion|nucleus	mRNA binding|peptidase activity|peroxidase activity|protein homodimerization activity			large_intestine(1)	1	Ovarian(185;0.06)|all_lung(157;0.151)	all_epithelial(116;1.76e-16)|all_lung(118;3.66e-05)|Lung NSC(185;0.000163)|Renal(390;0.000469)|Colorectal(325;0.0033)|Breast(348;0.0044)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;1.28e-70)|GBM - Glioblastoma multiforme(8;3.05e-36)|Colorectal(212;6.83e-08)|COAD - Colon adenocarcinoma(227;7.51e-06)|Kidney(185;5.22e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000414)|KIRC - Kidney renal clear cell carcinoma(229;0.000967)|STAD - Stomach adenocarcinoma(132;0.00102)|READ - Rectum adenocarcinoma(331;0.0649)		TTACAACACACCCTCTTGCTA	0.373													4	73					0	0	1	0	0	T	8037767	C	T	8037767	2	4	65	1	0	0	0	0	0	0	0	1	11497	506	18	2		2	PARK7	1	8037767	Silent	SNP	C	TCGA-DH-A7UR-01A-11D-A33T-08		8037767	241212854	1	2829											
TNFRSF8	943	broad.mit.edu	37	1	12144582	12144582	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chr1:12144582G>A	ENST00000263932.2	+	2	347	c.125G>A	c.(124-126)aGg>aAg	p.R42K	TNFRSF8_ENST00000417814.2_Intron	NM_001243.3|NM_001281430.1	NP_001234.2|NP_001268359.1	P28908	TNR8_HUMAN	tumor necrosis factor receptor superfamily, member 8	42					cellular response to mechanical stimulus|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of TRAIL biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;8.71e-05)|all_lung(284;9.89e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)		AAGGCTGTCAGGAGGTGCTGT	0.582													45	41					0	0	1	0	0	A	12144582	G	A	12144582	3	1	65	1	0	0	0	0	1	0	0	0	16359	1000	35	2	131	2	TNFRSF8	1	12144582	Missense_Mutation	SNP	G	TCGA-DH-A7UR-01A-11D-A33T-08	4106815	12144582	237106039	2	2830											
NBPF1	55672	broad.mit.edu	37	1	16891370	16891372	+	In_Frame_Del	DEL	TCT	TCT	-			TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chr1:16891370_16891372delTCT	ENST00000430580.2	-	28	3993_3995	c.3106_3108delAGA	c.(3106-3108)agadel	p.R1036del		NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	1026	NBPF 6.					cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		tcttcgttgatcttcttcccctt	0.414													31	1771	---	---	---	---						-	16891372	TCT	-	16891370	7	5	65	1	0	1	0	1	0	0	0	0	10240	1432	50	0	319	0	NBPF1	1	16891370	In_Frame_Del	DEL	TCT	TCGA-DH-A7UR-01A-11D-A33T-08	4746788	16891370	232359251	3	2831											
FUBP1	8880	broad.mit.edu	37	1	78430644	78430644	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chr1:78430644C>A	ENST00000370767.1	-	9	733	c.646G>T	c.(646-648)Gga>Tga	p.G216*	FUBP1_ENST00000370768.2_Nonsense_Mutation_p.G216*|FUBP1_ENST00000436586.2_Nonsense_Mutation_p.G237*			Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1	216	KH 2.				transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						ATTTTAACTCCAGCCCGTTCC	0.363			"F, N"		oligodendroglioma								71	45					2.40655e-23	2.57671e-23	1	1	0	A	78430644	C	A	78430644	4	1	65	1	0	0	0	0	0	1	0	0	6127	603	21	5	1336	5	FUBP1	1	78430644	Nonsense_Mutation	SNP	C	TCGA-DH-A7UR-01A-11D-A33T-08	61539274	78430644	170819977	4	2832											
ZNF326	284695	broad.mit.edu	37	1	90482967	90482967	+	Missense_Mutation	SNP	T	T	G			TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chr1:90482967T>G	ENST00000370447.3	+	8	872	c.751T>G	c.(751-753)Tta>Gta	p.L251V	ZNF326_ENST00000340281.4_Missense_Mutation_p.L340V|ZNF326_ENST00000455342.2_Missense_Mutation_p.L134V			Q5BKZ1	ZN326_HUMAN	zinc finger protein 326						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix	DNA binding	p.L340V(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(7)|ovary(1)	25		all_lung(203;0.0116)|Lung NSC(277;0.0417)		all cancers(265;0.00728)|Epithelial(280;0.0265)		TCAGGAAACATTAGATCATAT	0.299													3	47					0	0	1	0	0	G	90482967	T	G	90482967	3	3	65	1	0	0	0	0	1	0	0	0	17903	1490	52	4	1052	4	ZNF326	1	90482967	Missense_Mutation	SNP	T	TCGA-DH-A7UR-01A-11D-A33T-08	12052323	90482967	158767654	5	2833											
RPTN	126638	broad.mit.edu	37	1	152129200	152129200	+	Silent	SNP	G	G	A			TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chr1:152129200G>A	ENST00000316073.3	-	3	439	c.375C>T	c.(373-375)caC>caT	p.H125H		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	125	Gln-rich.					proteinaceous extracellular matrix	calcium ion binding			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						TTTCTTCCTCGTGCCTCTGTC	0.542													41	407					0	0	1	0	0	A	152129200	G	A	152129200	2	1	65	1	0	0	0	0	0	0	0	1	13716	1136	40	1		1	RPTN	1	152129200	Silent	SNP	G	TCGA-DH-A7UR-01A-11D-A33T-08	61646233	152129200	97121421	6	2834											
FCRL4	83417	broad.mit.edu	37	1	157545510	157545510	+	Silent	SNP	G	G	A			TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chr1:157545510G>A	ENST00000271532.1	-	11	1575	c.1440C>T	c.(1438-1440)tcC>tcT	p.S480S	FCRL4_ENST00000448509.2_5'UTR	NM_031282.2	NP_112572.1	Q96PJ5	FCRL4_HUMAN	Fc receptor-like 4	480						integral to membrane|plasma membrane	receptor activity			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	40	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)				GAAGTGTCCTGGAGGTATTAG	0.463													74	123					0	0	1	0	0	A	157545510	G	A	157545510	2	1	65	1	0	0	0	0	0	0	0	1	5830	1335	47	2		2	FCRL4	1	157545510	Silent	SNP	G	TCGA-DH-A7UR-01A-11D-A33T-08	5416310	157545510	91705111	7	2835											
KIFAP3	22920	broad.mit.edu	37	1	170003518	170003520	+	In_Frame_Del	DEL	TTC	TTC	-			TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chr1:170003518_170003520delTTC	ENST00000367765.1	-	7	2116_2118	c.615_617delGAA	c.(613-618)aagaaa>aaa	p.205_206KK>K	KIFAP3_ENST00000538366.1_In_Frame_Del_p.167_168KK>K|KIFAP3_ENST00000367767.1_In_Frame_Del_p.201_202KK>K|KIFAP3_ENST00000361580.2_In_Frame_Del_p.245_246KK>K	NM_001204517.1	NP_001191446.1	Q92845	KIFA3_HUMAN	kinesin-associated protein 3	245					blood coagulation|plus-end-directed vesicle transport along microtubule|protein complex assembly|signal transduction	centrosome|condensed nuclear chromosome|cytosol|endoplasmic reticulum|kinesin II complex|spindle microtubule	kinesin binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|prostate(2)|skin(3)|urinary_tract(2)	35	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					GATATCAGCTTTCTTCTTCTTTG	0.33													16	124	---	---	---	---						-	170003520	TTC	-	170003518	7	5	65	1	0	1	0	1	0	0	0	0	8353	1841	64	0	1697	0	KIFAP3	1	170003518	In_Frame_Del	DEL	TTC	TCGA-DH-A7UR-01A-11D-A33T-08	12458008	170003518	79247103	8	2836											
TNR	7143	broad.mit.edu	37	1	175355252	175355252	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chr1:175355252G>A	ENST00000367674.2	-	8	2401	c.1693C>T	c.(1693-1695)Cgg>Tgg	p.R565W	TNR_ENST00000263525.2_Missense_Mutation_p.R565W			Q92752	TENR_HUMAN	tenascin R		Fibronectin type-III 3.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					GAGCCAGGCCGCAGGGCCTGC	0.607													4	139					0	0	1	0	0	A	175355252	G	A	175355252	3	1	65	1	0	0	0	0	1	0	0	0	16398	1086	38	1	2447	1	TNR	1	175355252	Missense_Mutation	SNP	G	TCGA-DH-A7UR-01A-11D-A33T-08	5351734	175355252	73895369	9	2837											
PDC	5132	broad.mit.edu	37	1	186413580	186413580	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chr1:186413580C>T	ENST00000391997.2	-	4	359	c.272G>A	c.(271-273)cGt>cAt	p.R91H	PDC_ENST00000340129.5_Missense_Mutation_p.R91H|PDC_ENST00000456239.2_Missense_Mutation_p.R39H|PDC_ENST00000497198.1_Missense_Mutation_p.R39H	NM_002597.4	NP_002588.3	P20941	PHOS_HUMAN	phosducin	91					G-protein coupled receptor protein signaling pathway|phototransduction|visual perception	actin cytoskeleton|cytosol|nucleus|photoreceptor inner segment|photoreceptor outer segment	phospholipase inhibitor activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|prostate(1)|skin(1)	7		Breast(1374;1.53e-05)		KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|Colorectal(1306;0.0129)		ACGGTATTTACGAAGGCAGTT	0.368													53	106					0	0	1	0	0	T	186413580	C	T	186413580	3	4	65	1	0	0	0	0	1	0	0	0	11661	536	19	1	472	1	PDC	1	186413580	Missense_Mutation	SNP	C	TCGA-DH-A7UR-01A-11D-A33T-08	11058328	186413580	62837041	10	2838											
OR14C36	127066	broad.mit.edu	37	1	248512274	248512274	+	Missense_Mutation	SNP	C	C	G			TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chr1:248512274C>G	ENST00000317861.1	+	1	198	c.198C>G	c.(196-198)atC>atG	p.I66M		NM_001001918.1	NP_001001918.1	Q8NHC7	O14CZ_HUMAN	olfactory receptor, family 14, subfamily C, member 36	66					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(2)|lung(20)|ovary(2)|prostate(3)|skin(7)|upper_aerodigestive_tract(2)	43						ATCTGTCTATCTTGGATGCCT	0.478													5	152					0	0	1	0	0	G	248512274	C	G	248512274	3	3	65	1	0	0	0	0	1	0	0	0	10994	903	32	4	200	4	OR14C36	1	248512274	Missense_Mutation	SNP	C	TCGA-DH-A7UR-01A-11D-A33T-08	62098694	248512274	738347	11	2839											
NCOA1	8648	broad.mit.edu	37	2	24952522	24952522	+	Silent	SNP	G	G	A			TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chr2:24952522G>A	ENST00000405141.1	+	18	3750	c.3039G>A	c.(3037-3039)agG>agA	p.R1013R	NCOA1_ENST00000407230.1_Silent_p.R862R|NCOA1_ENST00000395856.3_Silent_p.R1013R|NCOA1_ENST00000538539.1_Silent_p.R1013R|NCOA1_ENST00000406961.1_Silent_p.R1013R|NCOA1_ENST00000348332.3_Silent_p.R1013R|NCOA1_ENST00000288599.5_Silent_p.R1013R			Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1	1013									PAX3/NCOA1(8)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	53	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCATGGTCAGGCAAAAACCTT	0.512			T	PAX3	alveolar rhadomyosarcoma								4	217					0	0	1	0	0	A	24952522	G	A	24952522	2	1	65	1	0	0	0	0	0	0	0	1	10275	1194	42	2		2	NCOA1	2	24952522	Silent	SNP	G	TCGA-DH-A7UR-01A-11D-A33T-08		24952522	218246851	12	2840											
TTC7A	57217	broad.mit.edu	37	2	47221500	47221500	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chr2:47221500C>T	ENST00000319190.5	+	7	1216	c.848C>T	c.(847-849)gCg>gTg	p.A283V	TTC7A_ENST00000263737.6_Intron|TTC7A_ENST00000394850.2_Missense_Mutation_p.A283V|TTC7A_ENST00000409245.1_Missense_Mutation_p.A249V|TTC7A_ENST00000461601.1_3'UTR	NM_020458.2	NP_065191.2	Q9ULT0	TTC7A_HUMAN	tetratricopeptide repeat domain 7A	283							binding			breast(4)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)			TGCCAGATGGCGGCCAAGCAC	0.632													14	294					0	0	1	0	0	T	47221500	C	T	47221500	3	4	65	1	0	0	0	0	1	0	0	0	16774	768	27	1	874	1	TTC7A	2	47221500	Missense_Mutation	SNP	C	TCGA-DH-A7UR-01A-11D-A33T-08	22268978	47221500	195977873	13	2841											
EHBP1	23301	broad.mit.edu	37	2	63272232	63272232	+	Silent	SNP	C	C	T			TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chr2:63272232C>T	ENST00000263991.5	+	24	4004	c.3522C>T	c.(3520-3522)cgC>cgT	p.R1174R	EHBP1_ENST00000354487.3_Silent_p.R1139R|EHBP1_ENST00000405289.1_Silent_p.R1139R|EHBP1_ENST00000431489.1_Silent_p.R1103R|EHBP1_ENST00000496857.1_3'UTR|AC009501.4_ENST00000437346.1_RNA|EHBP1_ENST00000405015.3_Silent_p.R1103R|AC009501.4_ENST00000429952.1_RNA	NM_015252.3	NP_056067.2	Q8NDI1	EHBP1_HUMAN	EH domain binding protein 1	1174						cytoplasm|membrane				biliary_tract(1)|breast(3)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(22)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	47	Lung NSC(7;0.0951)|all_lung(7;0.169)		LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189)			AGAAGCGACGCGAACAGCTTC	0.662													6	11					0	0	1	0	0	T	63272232	C	T	63272232	2	4	65	1	0	0	0	0	0	0	0	1	5001	755	27	1		1	EHBP1	2	63272232	Silent	SNP	C	TCGA-DH-A7UR-01A-11D-A33T-08	16050732	63272232	179927141	14	2842											
PSD4	23550	broad.mit.edu	37	2	113940279	113940279	+	Silent	SNP	C	C	T	rs147089589		TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chr2:113940279C>T	ENST00000441564.3	+	2	415	c.246C>T	c.(244-246)gaC>gaT	p.D82D	PSD4_ENST00000465917.1_3'UTR|PSD4_ENST00000245796.6_Silent_p.D82D			Q8NDX1	PSD4_HUMAN	pleckstrin and Sec7 domain containing 4						regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TCCATCAGGACGGGCTGGAGC	0.622													4	55					0	0	1	0	0	T	113940279	C	T	113940279	2	4	65	1	0	0	0	0	0	0	0	1	12698	535	19	1		1	PSD4	2	113940279	Silent	SNP	C	TCGA-DH-A7UR-01A-11D-A33T-08	50668047	113940279	129259094	15	2843											
PSD4	23550	broad.mit.edu	37	2	113958749	113958749	+	Silent	SNP	G	G	A			TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chr2:113958749G>A	ENST00000441564.3	+	17	3010	c.2841G>A	c.(2839-2841)gaG>gaA	p.E947E	PSD4_ENST00000245796.6_Silent_p.E976E			Q8NDX1	PSD4_HUMAN	pleckstrin and Sec7 domain containing 4						regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CCCGCTACGAGACCTACGTGC	0.632													8	279					0	0	1	0	0	A	113958749	G	A	113958749	2	1	65	1	0	0	0	0	0	0	0	1	12698	933	33	2		2	PSD4	2	113958749	Silent	SNP	G	TCGA-DH-A7UR-01A-11D-A33T-08	18470	113958749	129240624	16	2844											
CLASP1	23332	broad.mit.edu	37	2	122125380	122125380	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chr2:122125380G>A	ENST00000263710.4	-	35	4059	c.3670C>T	c.(3670-3672)Cct>Tct	p.P1224S	CLASP1_ENST00000545861.1_Missense_Mutation_p.P931S|CLASP1_ENST00000397587.3_Missense_Mutation_p.P1164S|CLASP1_ENST00000541377.1_Missense_Mutation_p.P1163S|CLASP1_ENST00000455322.2_Missense_Mutation_p.P1180S|CLASP1_ENST00000409078.3_Missense_Mutation_p.P1157S|CLASP1_ENST00000541859.1_Missense_Mutation_p.P941S	NM_015282.2	NP_056097.1	Q7Z460	CLAP1_HUMAN	cytoplasmic linker associated protein 1	1224					axon guidance|cell division|establishment or maintenance of cell polarity|exit from mitosis|G2/M transition of mitotic cell cycle|microtubule anchoring|microtubule bundle formation|microtubule nucleation|microtubule organizing center organization|mitotic prometaphase|negative regulation of microtubule depolymerization	centrosomal corona|condensed chromosome kinetochore|cortical microtubule cytoskeleton|cytoplasmic microtubule|cytosol|Golgi apparatus|kinetochore microtubule	kinetochore binding|microtubule plus-end binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)	47	Renal(3;0.0496)					TCAGTGGCAGGGGAGGCAGCG	0.582													38	57					0	0	1	0	0	A	122125380	G	A	122125380	3	1	65	1	0	0	0	0	1	0	0	0	3477	1232	43	2	970	2	CLASP1	2	122125380	Missense_Mutation	SNP	G	TCGA-DH-A7UR-01A-11D-A33T-08	8166631	122125380	121073993	17	2845											
USP40	55230	broad.mit.edu	37	2	234465531	234465534	+	Frame_Shift_Del	DEL	ACAA	ACAA	-			TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chr2:234465531_234465534delACAA	ENST00000251722.6	-	5	630_633	c.513_516delTTGT	c.(511-516)gtttgtfs	p.VC171fs	USP40_ENST00000427112.2_Frame_Shift_Del_p.VC171fs|USP40_ENST00000450966.1_Frame_Shift_Del_p.VC183fs			Q9NVE5	UBP40_HUMAN	ubiquitin specific peptidase 40	171					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(1)|endometrium(6)|kidney(5)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539)		Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646)		TACATTCTTTACAAACAATCTGGT	0.363													27	55	---	---	---	---						-	234465534	ACAA	-	234465531	7	5	65	1	0	1	0	1	0	0	0	0	17132	389	14	0	3303	0	USP40	2	234465531	Frame_Shift_Del	DEL	ACAA	TCGA-DH-A7UR-01A-11D-A33T-08	112340151	234465531	8733842	18	2846											
NIT2	56954	broad.mit.edu	37	3	100065063	100065063	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chr3:100065063C>T	ENST00000394140.4	+	6	560	c.469C>T	c.(469-471)Cgg>Tgg	p.R157W		NM_020202.4	NP_064587.1	Q9NQR4	NIT2_HUMAN	nitrilase family, member 2		CN hydrolase.				nitrogen compound metabolic process		omega-amidase activity			breast(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(1)	17						CTACGACATGCGGTTTGCAGA	0.493													3	63					0	0	1	0	0	T	100065063	C	T	100065063	3	4	65	1	0	0	0	0	1	0	0	0	10481	759	27	1	491	1	NIT2	3	100065063	Missense_Mutation	SNP	C	TCGA-DH-A7UR-01A-11D-A33T-08		100065063	97957367	19	2847											
PRKCI	5584	broad.mit.edu	37	3	169998192	169998192	+	Splice_Site	SNP	G	G	A			TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chr3:169998192G>A	ENST00000295797.4	+	9	1187		c.e9+1			NM_002740.5	NP_002731.4	P41743	KPCI_HUMAN	protein kinase C, iota						anti-apoptosis|cellular membrane organization|cellular response to insulin stimulus|establishment or maintenance of epithelial cell apical/basal polarity|intracellular signal transduction|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|protein targeting to membrane|secretion|tight junction assembly|vesicle-mediated transport	cytosol|endosome|nucleus|polarisome	ATP binding|phospholipid binding|protein binding|protein kinase C activity|zinc ion binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	36	all_cancers(22;6.45e-23)|all_epithelial(15;8.52e-28)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)			TGATGATGAGGTAAGCACTGC	0.348													19	55					0	0	1	0	0	A	169998192	G	A	169998192	5	1	65	1	0	0	0	0	0	0	1	0	12566	1275	44	2	917	2	PRKCI	3	169998192	Splice_Site	SNP	G	TCGA-DH-A7UR-01A-11D-A33T-08	69933129	169998192	28024238	20	2848											
PSMD2	5708	broad.mit.edu	37	3	184022109	184022109	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chr3:184022109C>T	ENST00000310118.4	+	12	2027	c.1469C>T	c.(1468-1470)gCt>gTt	p.A490V	EIF2B5_ENST00000444495.1_Intron|PSMD2_ENST00000439383.1_Missense_Mutation_p.A360V|PSMD2_ENST00000435761.1_Missense_Mutation_p.A331V	NM_002808.3	NP_002799.3	Q13200	PSMD2_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 2	490					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	enzyme regulator activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|liver(1)|lung(12)|prostate(3)|upper_aerodigestive_tract(2)	27	all_cancers(143;1.54e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Bortezomib(DB00188)	TTGGCTTATGCTGGCTCAAAT	0.478													4	173					0	0	1	0	0	T	184022109	C	T	184022109	3	4	65	1	0	0	0	0	1	0	0	0	12747	797	28	2	1515	2	PSMD2	3	184022109	Missense_Mutation	SNP	C	TCGA-DH-A7UR-01A-11D-A33T-08	14023917	184022109	14000321	21	2849											
RFC4	5984	broad.mit.edu	37	3	186509619	186509620	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chr3:186509619_186509620delTT	ENST00000392481.2	-	8	976_977	c.695_696delAA	c.(694-696)aaafs	p.K232fs	RFC4_ENST00000433496.1_Frame_Shift_Del_p.K232fs|RFC4_ENST00000296273.2_Frame_Shift_Del_p.K232fs	NM_181573.2	NP_853551.1	P35249	RFC4_HUMAN	replication factor C (activator 1) 4, 37kDa	232					cell cycle checkpoint|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|phosphatidylinositol-mediated signaling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|protein binding			breast(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_cancers(143;2.92e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)	GBM - Glioblastoma multiforme(93;0.0739)		CTTCTGACACTTTAACAAGATA	0.322													20	146	---	---	---	---						-	186509620	TT	-	186509619	7	5	65	1	0	1	0	1	0	0	0	0	13299	1606	56	0	411	0	RFC4	3	186509619	Frame_Shift_Del	DEL	TT	TCGA-DH-A7UR-01A-11D-A33T-08	2487510	186509619	11512811	22	2850											
EVC2	132884	broad.mit.edu	37	4	5642373	5642375	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chr4:5642373_5642375delCTC	ENST00000310917.2	-	10	1827_1829	c.1096_1098delGAG	c.(1096-1098)gagdel	p.E366del	EVC2_ENST00000344408.5_In_Frame_Del_p.E446del|EVC2_ENST00000344938.1_In_Frame_Del_p.E446del	NM_001166136.1	NP_001159608.1	Q86UK5	LBN_HUMAN	Ellis van Creveld syndrome 2	446						integral to membrane		p.E446G(1)		NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						TCCGATCGTACTCCTCTTGTATT	0.438													116	298	---	---	---	---						-	5642375	CTC	-	5642373	7	5	65	1	0	1	0	1	0	0	0	0	5314	564	20	0	2640	0	EVC2	4	5642373	In_Frame_Del	DEL	CTC	TCGA-DH-A7UR-01A-11D-A33T-08		5642373	185511903	23	2851											
RBPJ	3516	broad.mit.edu	37	4	26426292	26426293	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chr4:26426292_26426293delGA	ENST00000342320.4	+	7	847_848	c.671_672delGA	c.(670-672)cgafs	p.R224fs	RBPJ_ENST00000361572.6_Frame_Shift_Del_p.R238fs|RBPJ_ENST00000342295.1_Frame_Shift_Del_p.R238fs|RBPJ_ENST00000504907.1_Frame_Shift_Del_p.R224fs|RBPJ_ENST00000348160.4_Frame_Shift_Del_p.R225fs|RBPJ_ENST00000355476.3_Frame_Shift_Del_p.R224fs|RBPJ_ENST00000345843.3_Frame_Shift_Del_p.R223fs|RBPJ_ENST00000507561.1_Frame_Shift_Del_p.R203fs			Q06330	SUH_HUMAN	recombination signal binding protein for immunoglobulin kappa J region	238					DNA recombination|negative regulation of transcription, DNA-dependent|positive regulation of transcription of Notch receptor target	cytoplasm|nucleolus|nucleoplasm	DNA binding|protein binding|recombinase activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)	15		Breast(46;0.0503)				TTCACAGTCCGAGATGGCTACA	0.376													7	107	---	---	---	---						-	26426293	GA	-	26426292	7	5	65	1	0	1	0	1	0	0	0	0	13213	1058	37	0	802	0	RBPJ	4	26426292	Frame_Shift_Del	DEL	GA	TCGA-DH-A7UR-01A-11D-A33T-08	20783919	26426292	164727984	24	2852											
WDR19	57728	broad.mit.edu	37	4	39276459	39276462	+	Frame_Shift_Del	DEL	TGAG	TGAG	-			TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chr4:39276459_39276462delTGAG	ENST00000399820.3	+	33	3751_3754	c.3597_3600delTGAG	c.(3595-3600)attgagfs	p.IE1199fs	WDR19_ENST00000288634.7_Frame_Shift_Del_p.IE1039fs	NM_025132.3	NP_079408.3	Q8NEZ3	WDR19_HUMAN	WD repeat domain 19	1199					cell projection organization	microtubule basal body|motile cilium|photoreceptor connecting cilium	binding			large_intestine(1)	1						CAACTGTGATTGAGTGTCACAGGG	0.49													16	240	---	---	---	---						-	39276462	TGAG	-	39276459	7	5	65	1	0	1	0	1	0	0	0	0	17339	1800	63	0	3727	0	WDR19	4	39276459	Frame_Shift_Del	DEL	TGAG	TCGA-DH-A7UR-01A-11D-A33T-08	12850167	39276459	151877817	25	2853											
AASDH	132949	broad.mit.edu	37	4	57204654	57204658	+	Frame_Shift_Del	DEL	GAGAA	GAGAA	-	rs112962387		TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chr4:57204654_57204658delGAGAA	ENST00000205214.6	-	15	3387_3391	c.3207_3211delTTCTC	c.(3205-3213)tcttctcctfs	p.SP1070fs	AASDH_ENST00000434343.2_Frame_Shift_Del_p.SP585fs|AASDH_ENST00000513376.1_Frame_Shift_Del_p.SP970fs|AASDH_ENST00000451613.1_3'UTR	NM_181806.2	NP_861522.2	Q4L235	ACSF4_HUMAN	aminoadipate-semialdehyde dehydrogenase	1070					fatty acid metabolic process		acid-thiol ligase activity|acyl carrier activity|ATP binding|cofactor binding			endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	40	Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.0017)				AGGACCACAGGAGAAGAGAAGACTT	0.4													25	104	---	---	---	---						-	57204658	GAGAA	-	57204654	7	5	65	1	0	1	0	1	0	0	0	0	22	1174	41	0	89	0	AASDH	4	57204654	Frame_Shift_Del	DEL	GAGAA	TCGA-DH-A7UR-01A-11D-A33T-08	17928195	57204654	133949622	26	2854											
WDFY3	23001	broad.mit.edu	37	4	85634366	85634366	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chr4:85634366G>A	ENST00000322366.6	-	50	8344	c.7937C>T	c.(7936-7938)aCg>aTg	p.T2646M	WDFY3_ENST00000295888.4_Missense_Mutation_p.T2663M			Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	2663						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		TGAACTGTCCGTTAGAGATGG	0.423													5	254					0	0	1	0	0	A	85634366	G	A	85634366	3	1	65	1	0	0	0	0	1	0	0	0	17330	1145	40	1	2664	1	WDFY3	4	85634366	Missense_Mutation	SNP	G	TCGA-DH-A7UR-01A-11D-A33T-08	28429712	85634366	105519910	27	2855											
FAT4	79633	broad.mit.edu	37	4	126373108	126373108	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chr4:126373108G>A	ENST00000394329.3	+	9	10950	c.10937G>A	c.(10936-10938)aGc>aAc	p.S3646N	FAT4_ENST00000335110.5_Missense_Mutation_p.S1944N	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3646					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GTGTTAGACAGCTTCCACTGC	0.478													70	137					0	0	1	0	0	A	126373108	G	A	126373108	3	1	65	1	0	0	0	0	1	0	0	0	5725	971	34	2	10971	2	FAT4	4	126373108	Missense_Mutation	SNP	G	TCGA-DH-A7UR-01A-11D-A33T-08	40738742	126373108	64781168	28	2856											
SMARCA5	8467	broad.mit.edu	37	4	144468620	144468622	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chr4:144468620_144468622delAAG	ENST00000283131.3	+	21	3198_3200	c.2736_2738delAAG	c.(2734-2739)caaaga>caa	p.R914del		NM_003601.3	NP_003592.3	O60264	SMCA5_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5	914					CenH3-containing nucleosome assembly at centromere|nucleosome positioning|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	condensed chromosome|nucleolus|nucleoplasm|NURF complex|RSF complex	ATP binding|ATPase activity|DNA binding|helicase activity|nucleosome binding|protein binding	p.Q912Q(1)	EWSR1/SMARCA5(2)	endometrium(2)|kidney(2)|large_intestine(9)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(180;0.158)					CGAGAATTCAAAGAAGAATAAGC	0.389													10	153	---	---	---	---						-	144468622	AAG	-	144468620	7	5	65	1	0	1	0	1	0	0	0	0	14825	11	1	0	2818	0	SMARCA5	4	144468620	In_Frame_Del	DEL	AAG	TCGA-DH-A7UR-01A-11D-A33T-08	18095512	144468620	46685656	29	2857											
LRRC14B	389257	broad.mit.edu	37	5	195061	195061	+	Missense_Mutation	SNP	C	C	G			TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chr5:195061C>G	ENST00000328278.3	+	2	1166	c.1138C>G	c.(1138-1140)Ctg>Gtg	p.L380V		NM_001080478.1	NP_001073947.1	A6NHZ5	LR14B_HUMAN	leucine rich repeat containing 14B	380										endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)|upper_aerodigestive_tract(2)	10						CGTTGGCATGCTGATCCTGGG	0.667													8	26					0	0	1	0	0	G	195061	C	G	195061	3	3	65	1	0	0	0	0	1	0	0	0	9014	796	28	4	1144	4	LRRC14B	5	195061	Missense_Mutation	SNP	C	TCGA-DH-A7UR-01A-11D-A33T-08		195061	180720199	30	2858											
ADAMTS12	81792	broad.mit.edu	37	5	33588803	33588803	+	Silent	SNP	C	C	T			TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chr5:33588803C>T	ENST00000504830.1	-	18	3101	c.2766G>A	c.(2764-2766)ccG>ccA	p.P922P	ADAMTS12_ENST00000504582.1_5'UTR|ADAMTS12_ENST00000352040.3_Silent_p.P837P	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	922	TSP type-1 3.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.P922P(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						AGTCTGTGGGCGGGAGAGCCT	0.632										HNSCC(64;0.19)			77	90					0	0	1	0	0	T	33588803	C	T	33588803	2	4	65	1	0	0	0	0	0	0	0	1	256	755	27	1		1	ADAMTS12	5	33588803	Silent	SNP	C	TCGA-DH-A7UR-01A-11D-A33T-08	33393742	33588803	147326457	31	2859											
SV2C	22987	broad.mit.edu	37	5	75505623	75505623	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chr5:75505623G>A	ENST00000502798.2	+	4	1266	c.824G>A	c.(823-825)cGg>cAg	p.R275Q	SV2C_ENST00000322285.7_Missense_Mutation_p.R275Q	NM_014979.1	NP_055794.1	Q496J9	SV2C_HUMAN	synaptic vesicle glycoprotein 2C	275					neurotransmitter transport	cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40)		CGGGAAAAGCGGGGCGAACAC	0.557													4	102					0	0	1	0	0	A	75505623	G	A	75505623	3	1	65	1	0	0	0	0	1	0	0	0	15475	1116	39	1	834	1	SV2C	5	75505623	Missense_Mutation	SNP	G	TCGA-DH-A7UR-01A-11D-A33T-08	41916820	75505623	105409637	32	2860											
ANKRD32	84250	broad.mit.edu	37	5	94014527	94014527	+	Silent	SNP	A	A	G			TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chr5:94014527A>G	ENST00000265140.5	+	15	2261	c.1842A>G	c.(1840-1842)gaA>gaG	p.E614E		NM_032290.3	NP_115666.2	Q9BQI6	ANR32_HUMAN	ankyrin repeat domain 32	614										NS(1)|breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|skin(1)	13		all_cancers(142;1.51e-09)|all_epithelial(76;4.68e-12)|all_lung(232;5.94e-05)|Ovarian(174;0.000953)|Lung NSC(167;0.00105)|Colorectal(57;0.122)|Lung SC(612;0.152)		all cancers(79;3.88e-18)		TCAAACATGAACTAGCTTACT	0.313													46	60					0	0	1	0	0	G	94014527	A	G	94014527	2	3	65	1	0	0	0	0	0	0	0	1	655	40	2	3		3	ANKRD32	5	94014527	Silent	SNP	A	TCGA-DH-A7UR-01A-11D-A33T-08	18508904	94014527	86900733	33	2861											
ACSL6	23305	broad.mit.edu	37	5	131321132	131321132	+	Missense_Mutation	SNP	A	A	C			TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chr5:131321132A>C	ENST00000379264.2	-	9	992	c.884T>G	c.(883-885)cTc>cGc	p.L295R	ACSL6_ENST00000544770.1_Missense_Mutation_p.L179R|ACSL6_ENST00000357096.1_Missense_Mutation_p.L235R|ACSL6_ENST00000379255.1_Missense_Mutation_p.L235R|ACSL6_ENST00000379244.1_Missense_Mutation_p.L270R|ACSL6_ENST00000379272.2_Missense_Mutation_p.L285R|ACSL6_ENST00000543479.1_Missense_Mutation_p.L270R|ACSL6_ENST00000379249.3_Missense_Mutation_p.L270R|ACSL6_ENST00000379240.1_Missense_Mutation_p.L270R|ACSL6_ENST00000431707.1_Missense_Mutation_p.L250R|ACSL6_ENST00000379246.1_Missense_Mutation_p.L281R|ACSL6_ENST00000296869.4_Missense_Mutation_p.L295R	NM_001009185.2	NP_001009185.1	Q9UKU0	ACSL6_HUMAN	acyl-CoA synthetase long-chain family member 6	270					fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane|plasma membrane	ATP binding|long-chain fatty acid-CoA ligase activity			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	35		all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CACAATGGAGAGGTCATCAGG	0.627													9	41					0	0	1	0	0	C	131321132	A	C	131321132	3	2	65	1	0	0	0	0	1	0	0	0	181	304	11	5	1418	5	ACSL6	5	131321132	Missense_Mutation	SNP	A	TCGA-DH-A7UR-01A-11D-A33T-08	37306605	131321132	49594128	34	2862											
DST	667	broad.mit.edu	37	6	56382032	56382032	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chr6:56382032C>T	ENST00000370754.5	-	71	18227	c.18228G>A	c.(18226-18228)atG>atA	p.M6076I	DST_ENST00000312431.6_3'UTR|DST_ENST00000446842.2_Missense_Mutation_p.M5572I|DST_ENST00000421834.2_Missense_Mutation_p.M3810I|DST_ENST00000340834.4_5'UTR|DST_ENST00000361203.3_Missense_Mutation_p.M5787I|DST_ENST00000244364.6_Missense_Mutation_p.M3484I|DST_ENST00000370769.4_Missense_Mutation_p.M5898I|DST_ENST00000370788.2_Missense_Mutation_p.M3701I			Q03001	DYST_HUMAN	dystonin	5896					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TGCATGCGGTCATGATTTTAT	0.378													80	178					0	0	1	0	0	T	56382032	C	T	56382032	3	4	65	1	0	0	0	0	1	0	0	0	4809	826	29	2	5195	2	DST	6	56382032	Missense_Mutation	SNP	C	TCGA-DH-A7UR-01A-11D-A33T-08		56382032	114733035	35	2863											
RADIL	55698	broad.mit.edu	37	7	4874838	4874838	+	Silent	SNP	C	C	T			TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chr7:4874838C>T	ENST00000399583.3	-	4	1003	c.816G>A	c.(814-816)cgG>cgA	p.R272R	RADIL_ENST00000538469.1_Silent_p.R32R|RADIL_ENST00000536091.1_Silent_p.R272R	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN	Ras association and DIL domains	272					cell adhesion|multicellular organismal development|signal transduction		protein binding			NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		CCACCGTGTGCCGGTCCCGGT	0.652													3	29					0	0	1	0	0	T	4874838	C	T	4874838	2	4	65	1	0	0	0	0	0	0	0	1	13049	726	26	2		2	RADIL	7	4874838	Silent	SNP	C	TCGA-DH-A7UR-01A-11D-A33T-08		4874838	154263825	36	2864											
HOXA1	3198	broad.mit.edu	37	7	27134078	27134078	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chr7:27134078G>A	ENST00000343060.4	-	2	1050	c.989C>T	c.(988-990)aCt>aTt	p.T330I	HOXA1_ENST00000355633.5_3'UTR	NM_005522.4	NP_005513	P49639	HXA1_HUMAN	homeobox A1	330						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						GGTAGTCAGAGTGTCTGAGGT	0.597													38	57					0	0	1	0	0	A	27134078	G	A	27134078	3	1	65	1	0	0	0	0	1	0	0	0	7329	1029	36	2	22	2	HOXA1	7	27134078	Missense_Mutation	SNP	G	TCGA-DH-A7UR-01A-11D-A33T-08	22259240	27134078	132004585	37	2865											
PCLO	27445	broad.mit.edu	37	7	82582077	82582077	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chr7:82582077C>T	ENST00000333891.9	-	5	8529	c.8192G>A	c.(8191-8193)cGt>cAt	p.R2731H	PCLO_ENST00000423517.2_Missense_Mutation_p.R2731H	NM_033026.5	NP_149015.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein						cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TGGTACTGTACGCAAATCAAT	0.353													9	64					0	0	1	0	0	T	82582077	C	T	82582077	3	4	65	1	0	0	0	0	1	0	0	0	11630	536	19	1	7337	1	PCLO	7	82582077	Missense_Mutation	SNP	C	TCGA-DH-A7UR-01A-11D-A33T-08	55447999	82582077	76556586	38	2866											
ZAN	7455	broad.mit.edu	37	7	100350298	100350298	+	RNA	SNP	C	C	T			TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chr7:100350298C>T	ENST00000542585.1	+	0	2718				ZAN_ENST00000546213.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000449052.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			ACAGAAAAACCCACCATCCCC	0.498													5	244					0	0	1	0	0	T	100350298	C	T	100350298	1	4	65	0	1	0	0	0	0	0	0	0	17573	623	22	2		2	ZAN	7	100350298	RNA	SNP	C	TCGA-DH-A7UR-01A-11D-A33T-08	17768221	100350298	58788365	39	2867											
MUC17	140453	broad.mit.edu	37	7	100681328	100681328	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chr7:100681328C>T	ENST00000306151.4	+	3	6695	c.6631C>T	c.(6631-6633)Cca>Tca	p.P2211S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2211	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TACCAGCATGCCAACCTCAAC	0.498													7	814					0	0	1	0	0	T	100681328	C	T	100681328	3	4	65	1	0	0	0	0	1	0	0	0	10022	739	26	2	6641	2	MUC17	7	100681328	Missense_Mutation	SNP	C	TCGA-DH-A7UR-01A-11D-A33T-08	331030	100681328	58457335	40	2868											
OR2A5	393046	broad.mit.edu	37	7	143748408	143748408	+	Missense_Mutation	SNP	T	T	G			TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chr7:143748408T>G	ENST00000408906.2	+	1	948	c.914T>G	c.(913-915)tTg>tGg	p.L305W		NM_012365.1	NP_036497.1	Q96R48	OR2A5_HUMAN	olfactory receptor, family 2, subfamily A, member 5	305					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(3)|large_intestine(5)|lung(23)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	38	Melanoma(164;0.0783)					AAAAGAGTGTTGTGGAAACAG	0.473													8	136					0	0	1	0	0	G	143748408	T	G	143748408	3	3	65	1	0	0	0	0	1	0	0	0	11029	1821	63	5	916	5	OR2A5	7	143748408	Missense_Mutation	SNP	T	TCGA-DH-A7UR-01A-11D-A33T-08	43067080	143748408	15390255	41	2869											
ZNF212	7988	broad.mit.edu	37	7	148947380	148947382	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chr7:148947380_148947382delAGA	ENST00000335870.2	+	2	283_285	c.155_157delAGA	c.(154-159)gagaag>gag	p.K54del		NM_012256.3	NP_036388.2	Q9UDV6	ZN212_HUMAN	zinc finger protein 212	54					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|identical protein binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(4)|ovary(1)|prostate(1)	9	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00171)			CAGGCTGTGGAGAAGAAGATGGA	0.567													7	136	---	---	---	---						-	148947382	AGA	-	148947380	7	5	65	1	0	1	0	1	0	0	0	0	17826	304	11	0	161	0	ZNF212	7	148947380	In_Frame_Del	DEL	AGA	TCGA-DH-A7UR-01A-11D-A33T-08	5198972	148947380	10191283	42	2870											
BAI1	575	broad.mit.edu	37	8	143604041	143604041	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chr8:143604041C>T	ENST00000517894.1	+	22	4109	c.3215C>T	c.(3214-3216)aCc>aTc	p.T1072I	BAI1_ENST00000323289.5_Missense_Mutation_p.T1072I			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	1072					axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					GTGGGATTCACCAAGGCCAAA	0.627													7	8					0	0	1	0	0	T	143604041	C	T	143604041	3	4	65	1	0	0	0	0	1	0	0	0	1296	507	18	2	3297	2	BAI1	8	143604041	Missense_Mutation	SNP	C	TCGA-DH-A7UR-01A-11D-A33T-08		143604041	2759981	43	2871											
TLE4	7091	broad.mit.edu	37	9	82323125	82323125	+	Missense_Mutation	SNP	G	G	T			TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chr9:82323125G>T	ENST00000376520.4	+	13	1953	c.1125G>T	c.(1123-1125)ttG>ttT	p.L375F	TLE4_ENST00000376552.2_Missense_Mutation_p.L343F|TLE4_ENST00000376534.4_5'UTR|TLE4_ENST00000265284.6_Missense_Mutation_p.L318F|TLE4_ENST00000376544.3_Missense_Mutation_p.L274F|TLE4_ENST00000376537.4_Missense_Mutation_p.L375F	NM_001282748.1	NP_001269677.1	O60756	BCE1_HUMAN	transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila)	0								p.L375L(1)|p.L343L(1)		breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						CTCCCGGATTGAGGCCTGTAC	0.418													15	171					6.81908e-15	7.22822e-15	1	1	0	T	82323125	G	T	82323125	3	4	65	1	0	0	0	0	1	0	0	0	16001	1281	45	5	1075	5	TLE4	9	82323125	Missense_Mutation	SNP	G	TCGA-DH-A7UR-01A-11D-A33T-08		82323125	58890306	44	2872											
ABCA2	20	broad.mit.edu	37	9	139905168	139905168	+	Silent	SNP	C	C	T			TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chr9:139905168C>T	ENST00000265662.5	-	40	6225	c.6078G>A	c.(6076-6078)aaG>aaA	p.K2026K	ABCA2_ENST00000341511.6_Silent_p.K2026K|ABCA2_ENST00000371605.3_Silent_p.K2025K			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	2025					cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		CCTCCACAGGCTTGGTAGACA	0.637													60	94					0	0	1	0	0	T	139905168	C	T	139905168	2	4	65	1	0	0	0	0	0	0	0	1	32	796	28	2		2	ABCA2	9	139905168	Silent	SNP	C	TCGA-DH-A7UR-01A-11D-A33T-08	57582043	139905168	1308263	45	2873											
TUBB8	347688	broad.mit.edu	37	10	93373	93373	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chr10:93373C>T	ENST00000447903.2	-	4	1058	c.743G>A	c.(742-744)cGc>cAc	p.R248H	TUBB8_ENST00000309812.4_Missense_Mutation_p.R320H			Q3ZCM7	TBB8_HUMAN	tubulin, beta 8 class VIII	320					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			NS(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(3)|stomach(1)	32		all_cancers(4;0.00131)|all_lung(4;0.000777)|Lung NSC(4;0.0043)|all_epithelial(10;0.0154)|Colorectal(49;0.235)		Epithelial(11;0.00341)|all cancers(11;0.00922)|OV - Ovarian serous cystadenocarcinoma(14;0.0508)|Lung(33;0.132)		CATGGGCATGCGACCCCTGAA	0.522													5	278					0	0	1	0	0	T	93373	C	T	93373	3	4	65	1	0	0	0	0	1	0	0	0	16823	768	27	1	379	1	TUBB8	10	93373	Missense_Mutation	SNP	C	TCGA-DH-A7UR-01A-11D-A33T-08		93373	135441374	46	2874											
MAP3K8	1326	broad.mit.edu	37	10	30739449	30739452	+	Splice_Site	DEL	GTAA	GTAA	-			TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chr10:30739449_30739452delGTAA	ENST00000263056.1	+	5	1462		c.e5+1		MAP3K8_ENST00000542547.1_Splice_Site|MAP3K8_ENST00000375321.1_Splice_Site	NM_001244134.1|NM_005204.3	NP_001231063.1|NP_005195.2	P41279	M3K8_HUMAN	mitogen-activated protein kinase kinase kinase 8						cell cycle|T cell costimulation	cytosol	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		Prostate(175;0.151)				GATATTAAACGTAAGTATCTTTGG	0.387													27	86	---	---	---	---						-	30739452	GTAA	-	30739449	8	5	65	1	0	1	0	1	0	0	1	0	9306	1159	40	0	777	0	MAP3K8	10	30739449	Splice_Site	DEL	GTAA	TCGA-DH-A7UR-01A-11D-A33T-08	30646076	30739449	104795298	47	2875											
ZEB1	6935	broad.mit.edu	37	10	31784731	31784731	+	Missense_Mutation	SNP	G	G	C			TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chr10:31784731G>C	ENST00000446923.2	+	3	626	c.235G>C	c.(235-237)Ggg>Cgg	p.G79R	ZEB1_ENST00000559858.1_3'UTR|ZEB1_ENST00000542815.3_Missense_Mutation_p.G28R|ZEB1_ENST00000560721.2_Intron|ZEB1_ENST00000361642.5_Missense_Mutation_p.G96R|ZEB1_ENST00000320985.10_Missense_Mutation_p.G95R	NM_001128128.2|NM_001174094.1	NP_001121600.1|NP_001167565.1	P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	95					cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				AGAAATCCTGGGGCCTGAAGC	0.383													5	180					0	0	1	0	0	C	31784731	G	C	31784731	3	2	65	1	0	0	0	0	1	0	0	0	17681	1232	43	5	307	5	ZEB1	10	31784731	Missense_Mutation	SNP	G	TCGA-DH-A7UR-01A-11D-A33T-08	1045282	31784731	103750016	48	2876											
KIF5B	3799	broad.mit.edu	37	10	32320036	32320036	+	Missense_Mutation	SNP	A	A	T			TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chr10:32320036A>T	ENST00000302418.4	-	14	2003	c.1546T>A	c.(1546-1548)Tat>Aat	p.Y516N		NM_004521.2	NP_004512.1	P33176	KINH_HUMAN	kinesin family member 5B	516					stress granule disassembly|vesicle transport along microtubule	kinesin complex|microtubule|perinuclear region of cytoplasm|vesicle	ATP binding|microtubule binding|microtubule motor activity		KIF5B/ALK(8)|KIF5B/RET(79)	NS(2)|breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)	35		Prostate(175;0.0137)				AGCAATTCATATTCCTTAGTT	0.318			T	"RET, ALK"	NSCLC								18	107					0	0	1	0	0	T	32320036	A	T	32320036	3	4	65	1	0	0	0	0	1	0	0	0	8348	449	16	4	1393	4	KIF5B	10	32320036	Missense_Mutation	SNP	A	TCGA-DH-A7UR-01A-11D-A33T-08	535305	32320036	103214711	49	2877											
FAM13C	220965	broad.mit.edu	37	10	61012753	61012753	+	Silent	SNP	C	C	T			TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chr10:61012753C>T	ENST00000373867.3	-	13	1551	c.1086G>A	c.(1084-1086)gaG>gaA	p.E362E	FAM13C_ENST00000277705.6_Silent_p.E466E|FAM13C_ENST00000435852.2_Silent_p.E446E|FAM13C_ENST00000442566.3_Silent_p.E467E|FAM13C_ENST00000419214.2_Silent_p.E348E|FAM13C_ENST00000373868.2_Silent_p.E446E|FAM13C_ENST00000468840.2_Silent_p.E363E	NM_001166698.1	NP_001160170.1	Q8NE31	FA13C_HUMAN	family with sequence similarity 13, member C	446										NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						AGTCCTCTTCCTCCTGCTTAT	0.463													6	87					0	0	1	0	0	T	61012753	C	T	61012753	2	4	65	1	0	0	0	0	0	0	0	1	5484	680	24	2		2	FAM13C	10	61012753	Silent	SNP	C	TCGA-DH-A7UR-01A-11D-A33T-08	28692717	61012753	74521994	50	2878											
KIF20B	9585	broad.mit.edu	37	10	91465121	91465121	+	Missense_Mutation	SNP	A	A	G			TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chr10:91465121A>G	ENST00000416354.1	+	2	142	c.70A>G	c.(70-72)Agg>Ggg	p.R24G	KIF20B_ENST00000260753.4_Missense_Mutation_p.R24G|KIF20B_ENST00000371728.3_Missense_Mutation_p.R24G|KIF20B_ENST00000394289.2_Missense_Mutation_p.R24G			Q96Q89	KI20B_HUMAN	kinesin family member 20B	24					cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis	centrosome|microtubule|nucleolus|nucleoplasm|spindle	ATP binding|ATPase activity|microtubule motor activity|WW domain binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						CCCAATTGCAAGGCCTTCAGA	0.358													58	114					0	0	1	0	0	G	91465121	A	G	91465121	3	3	65	1	0	0	0	0	1	0	0	0	8329	63	3	3	72	3	KIF20B	10	91465121	Missense_Mutation	SNP	A	TCGA-DH-A7UR-01A-11D-A33T-08	30452368	91465121	44069626	51	2879											
HECTD2	143279	broad.mit.edu	37	10	93247529	93247529	+	Silent	SNP	C	C	T			TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chr10:93247529C>T	ENST00000446394.1	+	12	1297	c.1197C>T	c.(1195-1197)atC>atT	p.I399I	HECTD2_ENST00000298068.5_Silent_p.I395I|HECTD2_ENST00000371667.1_Silent_p.I45I|HECTD2_ENST00000498446.1_3'UTR|HECTD2_ENST00000536715.1_Intron	NM_001284274.1	NP_001271203.1	Q5U5R9	HECD2_HUMAN	HECT domain containing E3 ubiquitin protein ligase 2	395					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity	p.I395I(1)		breast(2)|endometrium(2)|kidney(4)|large_intestine(10)|lung(7)|skin(1)|urinary_tract(1)	27						TGATAAACATCGCAAGGGTAA	0.313													25	151					0	0	1	0	0	T	93247529	C	T	93247529	2	4	65	1	0	0	0	0	0	0	0	1	7081	874	31	1		1	HECTD2	10	93247529	Silent	SNP	C	TCGA-DH-A7UR-01A-11D-A33T-08	1782408	93247529	42287218	52	2880											
C10orf76	79591	broad.mit.edu	37	10	103783291	103783291	+	Missense_Mutation	SNP	C	C	G			TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chr10:103783291C>G	ENST00000370033.4	-	8	731	c.612G>C	c.(610-612)gaG>gaC	p.E204D		NM_024541.2	NP_078817.2	Q5T2E6	CJ076_HUMAN	chromosome 10 open reading frame 76	204						integral to membrane				autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|upper_aerodigestive_tract(2)	24		Colorectal(252;0.123)		Epithelial(162;2.41e-08)|all cancers(201;6.41e-07)		CATACCCATGCTCCCTACGAC	0.438													46	82					0	0	1	0	0	G	103783291	C	G	103783291	3	3	65	1	0	0	0	0	1	0	0	0	1620	796	28	4	1533	4	C10orf76	10	103783291	Missense_Mutation	SNP	C	TCGA-DH-A7UR-01A-11D-A33T-08	10535762	103783291	31751456	53	2881											
TCF7L2	6934	broad.mit.edu	37	10	114905777	114905780	+	Frame_Shift_Del	DEL	CAAC	CAAC	-			TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chr10:114905777_114905780delCAAC	ENST00000355995.4	+	8	1303_1306	c.796_799delCAAC	c.(796-801)caaccafs	p.QP266fs	TCF7L2_ENST00000369397.4_Frame_Shift_Del_p.QP243fs|TCF7L2_ENST00000536810.1_Frame_Shift_Del_p.QP266fs|TCF7L2_ENST00000349937.2_Frame_Shift_Del_p.QP262fs|TCF7L2_ENST00000538897.1_Frame_Shift_Del_p.QP266fs|TCF7L2_ENST00000534894.1_Frame_Shift_Del_p.QP266fs|TCF7L2_ENST00000355717.4_Frame_Shift_Del_p.QP290fs|TCF7L2_ENST00000545257.1_Frame_Shift_Del_p.QP266fs|TCF7L2_ENST00000369389.1_5'UTR|TCF7L2_ENST00000542695.1_5'UTR|TCF7L2_ENST00000369395.1_Frame_Shift_Del_p.QP291fs|TCF7L2_ENST00000352065.5_Frame_Shift_Del_p.QP243fs|TCF7L2_ENST00000543371.1_Frame_Shift_Del_p.QP266fs			Q9NQB0	TF7L2_HUMAN	transcription factor 7-like 2 (T-cell specific, HMG-box)	266	Mediates interaction with MAD2L2.|Pro-rich.				anti-apoptosis|blood vessel development|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell cycle arrest|cell proliferation|fat cell differentiation|glucose homeostasis|maintenance of DNA repeat elements|myoblast cell fate commitment|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|pancreas development|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of insulin secretion|positive regulation of protein binding|positive regulation of protein export from nucleus|positive regulation of protein kinase B signaling cascade|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone metabolic process|regulation of smooth muscle cell proliferation|response to glucose stimulus	beta-catenin-TCF7L2 complex|PML body|protein-DNA complex	armadillo repeat domain binding|beta-catenin binding|gamma-catenin binding|nuclear hormone receptor binding|protein kinase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding		VTI1A/TCF7L2(8)	central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(24)|liver(2)|lung(8)|ovary(1)|skin(1)	41		Breast(234;0.058)|Colorectal(252;0.0615)		Epithelial(162;0.00554)|all cancers(201;0.02)		TAGGCAAGGTCAACCAGTGTACCC	0.505			T	VTI1A	colorectal								21	243	---	---	---	---						-	114905780	CAAC	-	114905777	7	5	65	1	0	1	0	1	0	0	0	0	15758	827	29	0	971	0	TCF7L2	10	114905777	Frame_Shift_Del	DEL	CAAC	TCGA-DH-A7UR-01A-11D-A33T-08	11122486	114905777	20628970	54	2882											
ANO9	338440	broad.mit.edu	37	11	418476	418476	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chr11:418476C>T	ENST00000332826.6	-	23	2328	c.2244G>A	c.(2242-2244)tgG>tgA	p.W748*		NM_001012302.2	NP_001012302	A1A5B4	ANO9_HUMAN	anoctamin 9	748						chloride channel complex	chloride channel activity			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|lung(5)|ovary(1)|prostate(4)|skin(4)	21						GCCTTCCATGCCACATCTTCT	0.622													45	88					0	0	1	0	0	T	418476	C	T	418476	4	4	65	1	0	0	0	0	0	1	0	0	698	740	26	2	108	2	ANO9	11	418476	Nonsense_Mutation	SNP	C	TCGA-DH-A7UR-01A-11D-A33T-08		418476	134588040	55	2883											
SERGEF	26297	broad.mit.edu	37	11	17981080	17981080	+	Silent	SNP	G	G	A			TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chr11:17981080G>A	ENST00000265965.5	-	9	1099	c.948C>T	c.(946-948)ctC>ctT	p.L316L	SERGEF_ENST00000532265.1_Intron|SERGEF_ENST00000528200.1_Intron	NM_012139.2	NP_036271.1	Q9UGK8	SRGEF_HUMAN	secretion regulating guanine nucleotide exchange factor	316					negative regulation of protein secretion|signal transduction	cytoplasm|nucleus	protein binding|Ran guanyl-nucleotide exchange factor activity			autonomic_ganglia(1)|central_nervous_system(1)|large_intestine(5)|lung(5)	12						TTGAACAGGGGAGAAATGAAT	0.488													44	66					0	0	1	0	0	A	17981080	G	A	17981080	2	1	65	1	0	0	0	0	0	0	0	1	14131	1161	41	2		2	SERGEF	11	17981080	Silent	SNP	G	TCGA-DH-A7UR-01A-11D-A33T-08	17562604	17981080	117025436	56	2884											
OR4C3	256144	broad.mit.edu	37	11	48346856	48346856	+	Missense_Mutation	SNP	T	T	C			TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chr11:48346856T>C	ENST00000319856.4	+	1	385	c.364T>C	c.(364-366)Tgc>Cgc	p.C122R		NM_001004702.1	NP_001004702.1	Q8NH37	OR4C3_HUMAN	olfactory receptor, family 4, subfamily C, member 3	95					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						TTATGAGTGCTGCATGGCTCA	0.458													9	496					0	0	1	0	0	C	48346856	T	C	48346856	3	2	65	1	0	0	0	0	1	0	0	0	11098	1580	55	3	366	3	OR4C3	11	48346856	Missense_Mutation	SNP	T	TCGA-DH-A7UR-01A-11D-A33T-08	30365776	48346856	86659660	57	2885											
OR4S2	219431	broad.mit.edu	37	11	55418641	55418641	+	Missense_Mutation	SNP	A	A	C			TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chr11:55418641A>C	ENST00000312422.2	+	1	262	c.262A>C	c.(262-264)Aaa>Caa	p.K88Q		NM_001004059.2	NP_001004059.2	Q8NH73	OR4S2_HUMAN	olfactory receptor, family 4, subfamily S, member 2	88					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_epithelial(135;0.0748)				AGCAAAGGACAAAACCATCTC	0.418													142	262					0	0	1	0	0	C	55418641	A	C	55418641	3	2	65	1	0	0	0	0	1	0	0	0	11131	131	5	5	264	5	OR4S2	11	55418641	Missense_Mutation	SNP	A	TCGA-DH-A7UR-01A-11D-A33T-08	7071785	55418641	79587875	58	2886											
TIGD3	220359	broad.mit.edu	37	11	65124210	65124210	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chr11:65124210C>T	ENST00000309880.5	+	2	1138	c.931C>T	c.(931-933)Cgg>Tgg	p.R311W		NM_145719.2	NP_663771.1	Q6B0B8	TIGD3_HUMAN	tigger transposable element derived 3	311	DDE.				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding			endometrium(3)|large_intestine(1)|lung(9)|prostate(2)|skin(2)	17						TTACCGACACCGGCTGTTGGG	0.667													5	71					0	0	1	0	0	T	65124210	C	T	65124210	3	4	65	1	0	0	0	0	1	0	0	0	15957	643	23	1	933	1	TIGD3	11	65124210	Missense_Mutation	SNP	C	TCGA-DH-A7UR-01A-11D-A33T-08	9705569	65124210	69882306	59	2887											
MRGPRD	116512	broad.mit.edu	37	11	68747839	68747839	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chr11:68747839C>T	ENST00000309106.3	-	1	616	c.617G>A	c.(616-618)cGg>cAg	p.R206Q		NM_198923.2	NP_944605.2	Q8TDS7	MRGRD_HUMAN	MAS-related GPR, member D	206						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.R206Q(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2)	22			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			GGAGCTCCTCCGCACCCAGAC	0.627													5	74					0	0	1	0	0	T	68747839	C	T	68747839	3	4	65	1	0	0	0	0	1	0	0	0	9812	652	23	1	351	1	MRGPRD	11	68747839	Missense_Mutation	SNP	C	TCGA-DH-A7UR-01A-11D-A33T-08	3623629	68747839	66258677	60	2888											
PKP2	5318	broad.mit.edu	37	12	33031009	33031009	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chr12:33031009C>T	ENST00000340811.4	-	3	913	c.805G>A	c.(805-807)Ggg>Agg	p.G269R	PKP2_ENST00000070846.6_Missense_Mutation_p.G269R	NM_001005242.2	NP_001005242.2	Q99959	PKP2_HUMAN	plakophilin 2	269					cell-cell adhesion	desmosome|integral to membrane|nucleus	binding			NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					CTGACCTGCCCGACAGTGAGC	0.662													10	59					0	0	1	0	0	T	33031009	C	T	33031009	3	4	65	1	0	0	0	0	1	0	0	0	12033	652	23	1	1888	1	PKP2	12	33031009	Missense_Mutation	SNP	C	TCGA-DH-A7UR-01A-11D-A33T-08		33031009	100820886	61	2889											
ARID2	196528	broad.mit.edu	37	12	46123899	46123903	+	Frame_Shift_Del	DEL	TACTT	TACTT	-			TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chr12:46123899_46123903delTACTT	ENST00000334344.6	+	2	337_341	c.165_169delTACTT	c.(163-171)actactttafs	p.TL56fs	ARID2_ENST00000422737.1_5'UTR	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	56	ARID.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		CCAGAGTCACTACTTTAGGCGGATT	0.537			"N, S, F"		hepatocellular carcinoma								30	83	---	---	---	---						-	46123903	TACTT	-	46123899	7	5	65	1	0	1	0	1	0	0	0	0	912	1509	53	0	171	0	ARID2	12	46123899	Frame_Shift_Del	DEL	TACTT	TCGA-DH-A7UR-01A-11D-A33T-08	13092890	46123899	87727996	62	2890											
FMNL3	91010	broad.mit.edu	37	12	50045824	50045824	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chr12:50045824G>A	ENST00000335154.5	-	14	1728	c.1495C>T	c.(1495-1497)Cca>Tca	p.P499S	FMNL3_ENST00000352151.5_Missense_Mutation_p.P448S|FMNL3_ENST00000550488.1_Missense_Mutation_p.P499S|FMNL3_ENST00000293590.5_Missense_Mutation_p.P499S	NM_175736.4	NP_783863.4	Q8IVF7	FMNL3_HUMAN	formin-like 3	499	Pro-rich.				actin cytoskeleton organization		actin binding|Rho GTPase binding			breast(4)|endometrium(7)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|stomach(1)	39						TCGGAGGGTGGCATGCCCTCA	0.662													3	32					0	0	1	0	0	A	50045824	G	A	50045824	3	1	65	1	0	0	0	0	1	0	0	0	5986	1203	42	2	1640	2	FMNL3	12	50045824	Missense_Mutation	SNP	G	TCGA-DH-A7UR-01A-11D-A33T-08	3921925	50045824	83806071	63	2891											
MFSD5	84975	broad.mit.edu	37	12	53647528	53647528	+	Silent	SNP	C	C	T			TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chr12:53647528C>T	ENST00000534842.1	+	2	1377	c.1230C>T	c.(1228-1230)acC>acT	p.T410T	MFSD5_ENST00000329548.4_Silent_p.T303T	NM_001170790.1	NP_001164261.1	Q6N075	MFSD5_HUMAN	major facilitator superfamily domain containing 5	303					transport	integral to membrane				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|skin(3)|urinary_tract(1)	16						GTATCGCCACCTCCAAGAGGT	0.587													38	81					0	0	1	0	0	T	53647528	C	T	53647528	2	4	65	1	0	0	0	0	0	0	0	1	9584	668	24	2		2	MFSD5	12	53647528	Silent	SNP	C	TCGA-DH-A7UR-01A-11D-A33T-08	3601704	53647528	80204367	64	2892											
NCKAP1L	3071	broad.mit.edu	37	12	54917307	54917307	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chr12:54917307C>T	ENST00000293373.6	+	19	2087	c.2008C>T	c.(2008-2010)Cgc>Tgc	p.R670C	NCKAP1L_ENST00000545638.2_Missense_Mutation_p.R620C	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	670					actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						CCGGAAGAACCGCAGCATTGT	0.542													9	121					0	0	1	0	0	T	54917307	C	T	54917307	3	4	65	1	0	0	0	0	1	0	0	0	10269	652	23	1	2082	1	NCKAP1L	12	54917307	Missense_Mutation	SNP	C	TCGA-DH-A7UR-01A-11D-A33T-08	1269779	54917307	78934588	65	2893											
NAV3	89795	broad.mit.edu	37	12	78515813	78515815	+	In_Frame_Del	DEL	ATT	ATT	-			TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chr12:78515813_78515815delATT	ENST00000397909.2	+	16	4016_4018	c.3843_3845delATT	c.(3841-3846)acatta>aca	p.L1282del	NAV3_ENST00000266692.7_Intron|NAV3_ENST00000536525.2_In_Frame_Del_p.L1282del|NAV3_ENST00000228327.6_In_Frame_Del_p.L1282del			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1282	Ser-rich.					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						CTAGTACCACATTAGCGCGGCAA	0.562										HNSCC(70;0.22)			10	80	---	---	---	---						-	78515815	ATT	-	78515813	7	5	65	1	0	1	0	1	0	0	0	0	10233	204	8	0	3905	0	NAV3	12	78515813	In_Frame_Del	DEL	ATT	TCGA-DH-A7UR-01A-11D-A33T-08	23598506	78515813	55336082	66	2894											
NOS1	4842	broad.mit.edu	37	12	117691483	117691483	+	Missense_Mutation	SNP	T	T	C			TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chr12:117691483T>C	ENST00000317775.6	-	17	3293	c.2608A>G	c.(2608-2610)Aga>Gga	p.R870G	NOS1_ENST00000338101.4_Missense_Mutation_p.R904G|NOS1_ENST00000344089.3_3'UTR	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN	nitric oxide synthase 1 (neuronal)	870	Flavodoxin-like.				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	AAGTTGTCTCTGAGGTCGGGC	0.557													10	137					0	0	1	0	0	C	117691483	T	C	117691483	3	2	65	1	0	0	0	0	1	0	0	0	10588	1588	55	3	1748	3	NOS1	12	117691483	Missense_Mutation	SNP	T	TCGA-DH-A7UR-01A-11D-A33T-08	39175670	117691483	16160412	67	2895											
PITPNM2	57605	broad.mit.edu	37	12	123481449	123481449	+	Missense_Mutation	SNP	G	G	T			TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chr12:123481449G>T	ENST00000280562.5	-	11	1686	c.1481C>A	c.(1480-1482)cCc>cAc	p.P494H	PITPNM2_ENST00000542749.1_Missense_Mutation_p.P494H|PITPNM2_ENST00000392428.1_Missense_Mutation_p.P215H|PITPNM2_ENST00000320201.4_Missense_Mutation_p.P494H			Q9BZ72	PITM2_HUMAN	phosphatidylinositol transfer protein, membrane-associated 2	494					metabolic process|transport	endomembrane system|integral to membrane|intracellular membrane-bounded organelle	calcium ion binding|lipid binding			NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		ATGGCTGTAGGGGCTGAGGCT	0.662													24	33					7.92952e-12	8.24048e-12	1	1	0	T	123481449	G	T	123481449	3	4	65	1	0	0	0	0	1	0	0	0	11999	1232	43	5	2628	5	PITPNM2	12	123481449	Missense_Mutation	SNP	G	TCGA-DH-A7UR-01A-11D-A33T-08	5789966	123481449	10370446	68	2896											
LATS2	26524	broad.mit.edu	37	13	21549235	21549235	+	Missense_Mutation	SNP	G	G	A	rs45523141	byFrequency	TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chr13:21549235G>A	ENST00000382592.4	-	8	3446	c.3041C>T	c.(3040-3042)gCc>gTc	p.A1014V	LATS2_ENST00000542899.1_Missense_Mutation_p.A1014V	NM_014572.2	NP_055387.2	Q9NRM7	LATS2_HUMAN	large tumor suppressor kinase 2	1014	AGC-kinase C-terminal.		A -> G (in dbSNP:rs45523141).		cell division|G1/S transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|intracellular protein kinase cascade|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity	microtubule organizing center|nucleus|spindle pole	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2)	45		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)		ACCTTCGCTGGCATCGTTCCA	0.547													5	235					0	0	1	0	0	A	21549235	G	A	21549235	3	1	65	1	0	0	0	0	1	0	0	0	8686	1203	42	2	229	2	LATS2	13	21549235	Missense_Mutation	SNP	G	TCGA-DH-A7UR-01A-11D-A33T-08		21549235	93620643	69	2897											
N4BP2L2	10443	broad.mit.edu	37	13	33111032	33111032	+	Nonsense_Mutation	SNP	T	T	A			TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chr13:33111032T>A	ENST00000267068.3	-	2	297	c.133A>T	c.(133-135)Aga>Tga	p.R45*	N4BP2L2_ENST00000399396.3_Intron|N4BP2L2_ENST00000357505.6_Intron|N4BP2L2_ENST00000504114.1_Intron|N4BP2L2_ENST00000446957.2_Nonsense_Mutation_p.R45*	NM_014887.2	NP_055702.1	Q92802	N42L2_HUMAN	NEDD4 binding protein 2-like 2	45										kidney(4)|large_intestine(3)|liver(1)|lung(6)|skin(1)|urinary_tract(1)	16		Lung SC(185;0.0262)		all cancers(112;9.5e-07)|Epithelial(112;5.07e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00196)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.243)		TCTTGGATTCTGTGAAAATCA	0.388													55	100					0	0	1	0	0	A	33111032	T	A	33111032	4	1	65	1	0	0	0	0	0	1	0	0	10160	1588	55	5	3499	5	N4BP2L2	13	33111032	Nonsense_Mutation	SNP	T	TCGA-DH-A7UR-01A-11D-A33T-08	11561797	33111032	82058846	70	2898											
ELF1	1997	broad.mit.edu	37	13	41556170	41556170	+	Missense_Mutation	SNP	C	C	G			TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chr13:41556170C>G	ENST00000239882.3	-	2	335	c.21G>C	c.(19-21)caG>caC	p.Q7H	ELF1_ENST00000442101.1_Missense_Mutation_p.Q7H|ELF1_ENST00000498824.1_5'UTR	NM_172373.3	NP_758961.1	P32519	ELF1_HUMAN	E74-like factor 1 (ets domain transcription factor)	7					positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37		Lung NSC(96;8.3e-05)|Prostate(109;0.0233)|Breast(139;0.0296)|Lung SC(185;0.0367)		all cancers(112;1.87e-08)|Epithelial(112;8.45e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000202)|GBM - Glioblastoma multiforme(144;0.00266)|BRCA - Breast invasive adenocarcinoma(63;0.072)		CTAGGTCGTTCTGTTGGACAA	0.363													54	97					0	0	1	0	0	G	41556170	C	G	41556170	3	3	65	1	0	0	0	0	1	0	0	0	5081	912	32	4	1870	4	ELF1	13	41556170	Missense_Mutation	SNP	C	TCGA-DH-A7UR-01A-11D-A33T-08	8445138	41556170	73613708	71	2899											
FSCB	84075	broad.mit.edu	37	14	44973903	44973903	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chr14:44973903G>A	ENST00000340446.4	-	1	2579	c.2288C>T	c.(2287-2289)cCg>cTg	p.P763L		NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	763						cilium				breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		TGCCACCTGCGGTGACTGAAA	0.433													33	192					0	0	1	0	0	A	44973903	G	A	44973903	3	1	65	1	0	0	0	0	1	0	0	0	6101	1116	39	1	193	1	FSCB	14	44973903	Missense_Mutation	SNP	G	TCGA-DH-A7UR-01A-11D-A33T-08		44973903	62375637	72	2900											
AHNAK2	113146	broad.mit.edu	37	14	105408233	105408233	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chr14:105408233C>T	ENST00000333244.5	-	7	13674	c.13555G>A	c.(13555-13557)Gac>Aac	p.D4519N	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4519						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			ACCTCCAGGTCGGCGGAAGGG	0.627													6	323					0	0	1	0	0	T	105408233	C	T	105408233	3	4	65	1	0	0	0	0	1	0	0	0	412	884	31	1	3836	1	AHNAK2	14	105408233	Missense_Mutation	SNP	C	TCGA-DH-A7UR-01A-11D-A33T-08	60434330	105408233	1941307	73	2901											
MYO9A	4649	broad.mit.edu	37	15	72231199	72231199	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chr15:72231199delT	ENST00000356056.5	-	16	2844	c.2372delA	c.(2371-2373)aacfs	p.N791fs	MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000444904.1_Frame_Shift_Del_p.N772fs|MYO9A_ENST00000424560.1_Frame_Shift_Del_p.N791fs|MYO9A_ENST00000564571.1_Frame_Shift_Del_p.N791fs|MYO9A_ENST00000566885.1_Frame_Shift_Del_p.N411fs	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	791					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						TTACTGTTGGTTTTTTTCATT	0.303													55	67	---	---	---	---						-	72231199	T	-	72231199	7	5	65	1	0	1	0	1	0	0	0	0	10132	1725	60	0	5382	0	MYO9A	15	72231199	Frame_Shift_Del	DEL	T	TCGA-DH-A7UR-01A-11D-A33T-08		72231199	30300193	74	2902											
IDH2	3418	broad.mit.edu	37	15	90631839	90631839	+	Missense_Mutation	SNP	T	T	C			TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chr15:90631839T>C	ENST00000330062.3	-	4	627	c.514A>G	c.(514-516)Agg>Ggg	p.R172G	IDH2_ENST00000559482.1_Intron|IDH2_ENST00000539790.1_Missense_Mutation_p.R42G|IDH2_ENST00000540499.2_Missense_Mutation_p.R120G	NM_002168.2	NP_002159.2	P48735	IDHP_HUMAN	isocitrate dehydrogenase 2 (NADP+), mitochondrial	172					2-oxoglutarate metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding	p.R172W(12)|p.R172G(2)		biliary_tract(11)|bone(19)|central_nervous_system(107)|endometrium(1)|haematopoietic_and_lymphoid_tissue(953)|large_intestine(8)|lung(5)|skin(5)	1109	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.106)			TGGGCGTGCCTGCCAATGGTG	0.627			M		GBM								45	78					0	0	1	0	0	C	90631839	T	C	90631839	3	2	65	1	0	0	0	0	1	0	0	0	7539	1579	55	3	876	3	IDH2	15	90631839	Missense_Mutation	SNP	T	TCGA-DH-A7UR-01A-11D-A33T-08	18400640	90631839	11899553	75	2903											
FES	2242	broad.mit.edu	37	15	91428384	91428384	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chr15:91428384C>T	ENST00000328850.3	+	2	251	c.109C>T	c.(109-111)Cgg>Tgg	p.R37W	FES_ENST00000394302.1_Missense_Mutation_p.R37W|FES_ENST00000450438.2_Missense_Mutation_p.R37W|FES_ENST00000414248.2_Missense_Mutation_p.R37W|FES_ENST00000444422.2_Missense_Mutation_p.R37W|FES_ENST00000394300.3_Missense_Mutation_p.R37W	NM_002005.3	NP_001996.1	P07332	FES_HUMAN	feline sarcoma oncogene	37	FCH.|Important for interaction with membranes containing phosphoinositides.				axon guidance|cell proliferation|peptidyl-tyrosine phosphorylation	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			lung(2)|ovary(1)	3	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			GATGGCCCAGCGGGTCAAGAG	0.637													4	245					0	0	1	0	0	T	91428384	C	T	91428384	3	4	65	1	0	0	0	0	1	0	0	0	5853	759	27	1	111	1	FES	15	91428384	Missense_Mutation	SNP	C	TCGA-DH-A7UR-01A-11D-A33T-08	796545	91428384	11103008	76	2904											
TRAF7	84231	broad.mit.edu	37	16	2225554	2225554	+	Silent	SNP	C	C	T			TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chr16:2225554C>T	ENST00000326181.6	+	17	1689	c.1557C>T	c.(1555-1557)ctC>ctT	p.L519L		NM_032271.2	NP_115647.2	Q6Q0C0	TRAF7_HUMAN	TNF receptor-associated factor 7, E3 ubiquitin protein ligase	519					activation of MAPKKK activity|apoptosis|regulation of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic membrane-bounded vesicle|ubiquitin ligase complex	identical protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	23						TCACAGGCCTCAACCACTGGG	0.637													8	131					0	0	1	0	0	T	2225554	C	T	2225554	2	4	65	1	0	0	0	0	0	0	0	1	16507	813	29	2		2	TRAF7	16	2225554	Silent	SNP	C	TCGA-DH-A7UR-01A-11D-A33T-08		2225554	88129199	77	2905											
CENPBD1	92806	broad.mit.edu	37	16	90038172	90038172	+	Silent	SNP	T	T	C			TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chr16:90038172T>C	ENST00000314994.3	-	1	770	c.159A>G	c.(157-159)acA>acG	p.T53T	RP11-566K11.5_ENST00000565150.1_RNA|CENPBD1_ENST00000567035.1_Intron	NM_145039.3	NP_659476.2	B2RD01	CENP1_HUMAN	CENPB DNA-binding domains containing 1	53	HTH psq-type.				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding			endometrium(1)|lung(2)	3						TGGTCGCCACTGTAGAGATAG	0.463													23	45					0	0	1	0	0	C	90038172	T	C	90038172	2	2	65	1	0	0	0	0	0	0	0	1	3250	1567	55	3		3	CENPBD1	16	90038172	Silent	SNP	T	TCGA-DH-A7UR-01A-11D-A33T-08	87812618	90038172	316581	78	2906											
MYH3	4621	broad.mit.edu	37	17	10547674	10547674	+	Silent	SNP	G	G	A			TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chr17:10547674G>A	ENST00000583535.1	-	14	1491	c.1404C>T	c.(1402-1404)atC>atT	p.I468I	MYH3_ENST00000226209.7_Silent_p.I468I	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	468	Myosin head-like.				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						AAACCTCAAAGATTTCAAAGC	0.403													36	111					0	0	1	0	0	A	10547674	G	A	10547674	2	1	65	1	0	0	0	0	0	0	0	1	10084	932	33	2		2	MYH3	17	10547674	Silent	SNP	G	TCGA-DH-A7UR-01A-11D-A33T-08		10547674	70647536	79	2907											
CRYBA1	1411	broad.mit.edu	37	17	27581333	27581333	+	Missense_Mutation	SNP	C	C	T	rs147836280		TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chr17:27581333C>T	ENST00000225387.3	+	6	615	c.614C>T	c.(613-615)tCg>tTg	p.S205L		NM_005208.4	NP_005199.2	P05813	CRBA1_HUMAN	crystallin, beta A1	205	Beta/gamma crystallin 'Greek key' 4.				visual perception	soluble fraction	structural constituent of eye lens			breast(1)|large_intestine(2)|lung(1)|prostate(1)	5			BRCA - Breast invasive adenocarcinoma(11;3.3e-05)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551)			GCCCAGACTTCGCAGATCCAA	0.443													16	236					0	0	1	0	0	T	27581333	C	T	27581333	3	4	65	1	0	0	0	0	1	0	0	0	3930	893	31	1	636	1	CRYBA1	17	27581333	Missense_Mutation	SNP	C	TCGA-DH-A7UR-01A-11D-A33T-08	17033659	27581333	53613877	80	2908											
MLX	6945	broad.mit.edu	37	17	40722112	40722113	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chr17:40722112_40722113delCA	ENST00000246912.4	+	7	804_805	c.751_752delCA	c.(751-753)cagfs	p.Q251fs	MLX_ENST00000346833.4_Frame_Shift_Del_p.Q167fs|MLX_ENST00000435881.2_Frame_Shift_Del_p.Q197fs	NM_170607.2	NP_733752.1	Q9UH92	MLX_HUMAN	MLX, MAX dimerization protein	251					energy reserve metabolic process|negative regulation of transcription, DNA-dependent|positive regulation of cellular metabolic process	cytoplasm|nucleus	DNA binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding			kidney(3)|large_intestine(4)|lung(1)|ovary(1)|urinary_tract(1)	10		all_cancers(22;4.26e-05)|Breast(137;0.000153)|all_epithelial(22;0.00148)		BRCA - Breast invasive adenocarcinoma(366;0.129)		TTCCCTGTTCCAGTCCTTCAAT	0.55													18	121	---	---	---	---						-	40722113	CA	-	40722112	7	5	65	1	0	1	0	1	0	0	0	0	9683	595	21	0	777	0	MLX	17	40722112	Frame_Shift_Del	DEL	CA	TCGA-DH-A7UR-01A-11D-A33T-08	13140779	40722112	40473098	81	2909											
QRICH2	84074	broad.mit.edu	37	17	74277003	74277003	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chr17:74277003G>A	ENST00000262765.5	-	9	3976	c.3797C>T	c.(3796-3798)gCc>gTc	p.A1266V		NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN	glutamine rich 2	1266							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						CTGCAGGATGGCACTCTGCAC	0.617													4	87					0	0	1	0	0	A	74277003	G	A	74277003	3	1	65	1	0	0	0	0	1	0	0	0	12932	1203	42	2	1238	2	QRICH2	17	74277003	Missense_Mutation	SNP	G	TCGA-DH-A7UR-01A-11D-A33T-08	33554891	74277003	6918207	82	2910											
SEMA6B	10501	broad.mit.edu	37	19	4544495	4544495	+	Silent	SNP	C	C	T			TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chr19:4544495C>T	ENST00000586582.1	-	17	2095	c.1785G>A	c.(1783-1785)tcG>tcA	p.S595S	SEMA6B_ENST00000301293.3_Silent_p.S595S|SEMA6B_ENST00000586965.1_Silent_p.S595S	NM_032108.3	NP_115484.2	Q9H3T3	SEM6B_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6B	595					cell differentiation|nervous system development	integral to membrane	receptor activity			breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		GCAGGTTCACCGACACCAGCC	0.736													3	23					0	0	1	0	0	T	4544495	C	T	4544495	2	4	65	1	0	0	0	0	0	0	0	1	14094	639	23	1		1	SEMA6B	19	4544495	Silent	SNP	C	TCGA-DH-A7UR-01A-11D-A33T-08		4544495	54584488	83	2911											
FBN3	84467	broad.mit.edu	37	19	8161785	8161785	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chr19:8161785G>A	ENST00000600128.1	-	43	5807	c.5393C>T	c.(5392-5394)tCg>tTg	p.S1798L	FBN3_ENST00000270509.2_Missense_Mutation_p.S1798L|FBN3_ENST00000601739.1_Missense_Mutation_p.S1798L			Q75N90	FBN3_HUMAN	fibrillin 3	1798	EGF-like 27; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						CCCGCCTGGCGACAGTTTGTA	0.617													54	112					0	0	1	0	0	A	8161785	G	A	8161785	3	1	65	1	0	0	0	0	1	0	0	0	5737	1059	37	1	3124	1	FBN3	19	8161785	Missense_Mutation	SNP	G	TCGA-DH-A7UR-01A-11D-A33T-08	3617290	8161785	50967198	84	2912											
CCNE1	898	broad.mit.edu	37	19	30313174	30313174	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chr19:30313174G>A	ENST00000262643.3	+	10	1147	c.868G>A	c.(868-870)Gac>Aac	p.D290N	CCNE1_ENST00000357943.5_Missense_Mutation_p.D247N|CCNE1_ENST00000444983.2_Missense_Mutation_p.D275N	NM_001238.2	NP_001229.1	P24864	CCNE1_HUMAN	cyclin E1	290					androgen receptor signaling pathway|cell division|positive regulation of transcription, DNA-dependent|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle	cytosol|nucleoplasm	androgen receptor binding|protein kinase binding|transcription coactivator activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|skin(1)	20	all_cancers(1;2.19e-31)|all_epithelial(1;1.49e-30)|all_lung(1;1.37e-11)|Lung NSC(1;2.35e-11)|Ovarian(5;0.000902)|Breast(6;0.0203)|Esophageal squamous(110;0.195)		UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|Epithelial(1;6.85e-98)|all cancers(1;1.38e-94)|OV - Ovarian serous cystadenocarcinoma(1;1.38e-90)|STAD - Stomach adenocarcinoma(5;5.8e-07)|GBM - Glioblastoma multiforme(4;0.0394)|Lung(7;0.092)|LUAD - Lung adenocarcinoma(5;0.115)|BRCA - Breast invasive adenocarcinoma(6;0.183)|COAD - Colon adenocarcinoma(1;0.188)|Colorectal(1;0.202)			CCTGGATGTTGACTGCCTTGA	0.463			A		serous ovarian								5	160					0	0	1	0	0	A	30313174	G	A	30313174	3	1	65	1	0	0	0	0	1	0	0	0	2942	1290	45	2	902	2	CCNE1	19	30313174	Missense_Mutation	SNP	G	TCGA-DH-A7UR-01A-11D-A33T-08	22151389	30313174	28815809	85	2913											
CIC	23152	broad.mit.edu	37	19	42797278	42797278	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chr19:42797278C>T	ENST00000572681.2	+	16	6429	c.6361C>T	c.(6361-6363)Cga>Tga	p.R2121*	CIC_ENST00000575354.2_Nonsense_Mutation_p.R1214*|CIC_ENST00000160740.3_Nonsense_Mutation_p.R1212*			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	1214					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				TGGCCCAGTCCGAGAGCCAAC	0.706			"Mis, F, S"		oligodendroglioma								8	9					0	0	1	0	0	T	42797278	C	T	42797278	4	4	65	1	0	0	0	0	0	1	0	0	3446	644	23	1	3698	1	CIC	19	42797278	Nonsense_Mutation	SNP	C	TCGA-DH-A7UR-01A-11D-A33T-08	12484104	42797278	16331705	86	2914											
PTCHD1	139411	broad.mit.edu	37	X	23398283	23398283	+	Silent	SNP	G	G	A			TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chrX:23398283G>A	ENST00000379361.4	+	2	1787	c.927G>A	c.(925-927)ctG>ctA	p.L309L		NM_173495.2	NP_775766.2	Q96NR3	PTHD1_HUMAN	patched domain containing 1	309	SSD.				cognition|smoothened signaling pathway	integral to membrane|plasma membrane	hedgehog receptor activity			NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2)	42						CCATAAGCCTGGCCACTCTCA	0.517													71	155					0	0	1	0	0	A	23398283	G	A	23398283	2	1	65	1	0	0	0	0	0	0	0	1	12781	1335	47	2		2	PTCHD1	23	23398283	Silent	SNP	G	TCGA-DH-A7UR-01A-11D-A33T-08		23398283	131872277	87	2915											
CXorf58	254158	broad.mit.edu	37	X	23953455	23953455	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chrX:23953455G>A	ENST00000379211.3	+	7	1247	c.698G>A	c.(697-699)cGt>cAt	p.R233H		NM_001169574.1|NM_152761.2	NP_001163045.1|NP_689974.2	Q96LI9	CX058_HUMAN	chromosome X open reading frame 58	233										breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(2)|prostate(1)	14						ATCTCAAACCGTCTACGAAAT	0.373													7	199					0	0	1	0	0	A	23953455	G	A	23953455	3	1	65	1	0	0	0	0	1	0	0	0	4137	1145	40	1	720	1	CXorf58	23	23953455	Missense_Mutation	SNP	G	TCGA-DH-A7UR-01A-11D-A33T-08	555172	23953455	131317105	88	2916											
NUDT11	55190	broad.mit.edu	37	X	51239216	51239216	+	Silent	SNP	G	G	A			TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chrX:51239216G>A	ENST00000375992.3	-	1	232	c.81C>T	c.(79-81)agC>agT	p.S27S		NM_018159.3	NP_060629.2	Q96G61	NUD11_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 11	27	Nudix hydrolase.					cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	9	Ovarian(276;0.236)					CCTCGCGTTCGCTCCGGAAGC	0.682										HNSCC(48;0.14)			19	32					0	0	1	0	0	A	51239216	G	A	51239216	2	1	65	1	0	0	0	0	0	0	0	1	10775	1078	38	1		1	NUDT11	23	51239216	Silent	SNP	G	TCGA-DH-A7UR-01A-11D-A33T-08	27285761	51239216	104031344	89	2917											
FAM120C	54954	broad.mit.edu	37	X	54161406	54161406	+	Missense_Mutation	SNP	A	A	C			TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chrX:54161406A>C	ENST00000375180.2	-	7	1530	c.1474T>G	c.(1474-1476)Ttt>Gtt	p.F492V	FAM120C_ENST00000328235.4_Missense_Mutation_p.F492V	NM_017848.4	NP_060318.3	Q9NX05	F120C_HUMAN	family with sequence similarity 120C	492										breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						CAATTGGCAAAGGGGCTGTTC	0.522													24	62					0	0	1	0	0	C	54161406	A	C	54161406	3	2	65	1	0	0	0	0	1	0	0	0	5449	72	3	5	1856	5	FAM120C	23	54161406	Missense_Mutation	SNP	A	TCGA-DH-A7UR-01A-11D-A33T-08	2922190	54161406	101109154	90	2918											
NAP1L2	4674	broad.mit.edu	37	X	72433893	72433893	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chrX:72433893G>A	ENST00000373517.3	-	1	791	c.436C>T	c.(436-438)Ccc>Tcc	p.P146S	NAP1L2_ENST00000536638.1_Missense_Mutation_p.P4S	NM_021963.3	NP_068798.1	Q9ULW6	NP1L2_HUMAN	nucleosome assembly protein 1-like 2	146					nucleosome assembly	chromatin assembly complex				NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3)	29	Renal(35;0.156)					TCCAGTAAGGGTTGGTACATT	0.383													102	182					0	0	1	0	0	A	72433893	G	A	72433893	3	1	65	1	0	0	0	0	1	0	0	0	10205	1261	44	2	950	2	NAP1L2	23	72433893	Missense_Mutation	SNP	G	TCGA-DH-A7UR-01A-11D-A33T-08	18272487	72433893	82836667	91	2919											
LPAR4	2846	broad.mit.edu	37	X	78011462	78011462	+	Silent	SNP	C	C	T			TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chrX:78011462C>T	ENST00000435339.3	+	2	1482	c.1096C>T	c.(1096-1098)Cta>Tta	p.L366L		NM_005296.2	NP_005287.1	Q99677	LPAR4_HUMAN	lysophosphatidic acid receptor 4							integral to plasma membrane	lipid binding|purinergic nucleotide receptor activity, G-protein coupled			breast(3)|endometrium(3)|kidney(4)|large_intestine(4)|lung(16)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	38						TGAATTAATGCTAGAATCCAC	0.363													8	123					0	0	1	0	0	T	78011462	C	T	78011462	2	4	65	1	0	0	0	0	0	0	0	1	8952	796	28	2		2	LPAR4	23	78011462	Silent	SNP	C	TCGA-DH-A7UR-01A-11D-A33T-08	5577569	78011462	77259098	92	2920											
GRIA3	2892	broad.mit.edu	37	X	122536950	122536950	+	Splice_Site	SNP	G	G	T			TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chrX:122536950G>T	ENST00000264357.5	+	8	1477		c.e8+1		GRIA3_ENST00000371256.5_Splice_Site|GRIA3_ENST00000542149.1_Splice_Site|GRIA3_ENST00000541091.1_Splice_Site|GRIA3_ENST00000371251.1_Splice_Site	NM_000828.4	NP_000819	P42263	GRIA3_HUMAN	glutamate receptor, ionotropic, AMPA 3						glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity	p.?(3)		breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					L-Glutamic Acid(DB00142)	CTCTCGAAAAGTAAGTAACCA	0.318													85	136					1.10345e-40	1.19353e-40	1	1	0	T	122536950	G	T	122536950	5	4	65	1	0	0	0	0	0	0	1	0	6810	1043	36	4	1216	4	GRIA3	23	122536950	Splice_Site	SNP	G	TCGA-DH-A7UR-01A-11D-A33T-08	44525488	122536950	32733610	93	2921											
CCDC160	347475	broad.mit.edu	37	X	133379730	133379730	+	Missense_Mutation	SNP	G	G	T			TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chrX:133379730G>T	ENST00000517294.1	+	3	1283	c.900G>T	c.(898-900)gaG>gaT	p.E300D	CCDC160_ENST00000370809.4_Missense_Mutation_p.E300D			A6NGH7	CC160_HUMAN	coiled-coil domain containing 160	300										endometrium(1)|kidney(2)|large_intestine(10)|lung(2)|prostate(1)|skin(1)	17						GAGCCTTGGAGTTGCTTAGAA	0.373													3	32					1	1	1	1	0	T	133379730	G	T	133379730	3	4	65	1	0	0	0	0	1	0	0	0	2811	1020	36	4	902	4	CCDC160	23	133379730	Missense_Mutation	SNP	G	TCGA-DH-A7UR-01A-11D-A33T-08	10842780	133379730	21890830	94	2922											
L1CAM	3897	broad.mit.edu	37	X	153135292	153135292	+	Missense_Mutation	SNP	C	C	A			TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chrX:153135292C>A	ENST00000370060.1	-	10	1278	c.1089G>T	c.(1087-1089)gaG>gaT	p.E363D	L1CAM_ENST00000370055.1_Missense_Mutation_p.E358D|L1CAM_ENST00000538883.1_Missense_Mutation_p.E365D|L1CAM_ENST00000361699.4_Missense_Mutation_p.E363D|L1CAM_ENST00000370057.3_Missense_Mutation_p.E363D|L1CAM_ENST00000361981.3_Missense_Mutation_p.E358D|L1CAM_ENST00000543994.1_Missense_Mutation_p.E365D	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	363	Ig-like C2-type 4.				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane				NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TCCAGGTGACCTCTGGTTGGG	0.657													6	48					0.00116845	0.00119092	1	1	0	A	153135292	C	A	153135292	3	1	65	1	0	0	0	0	1	0	0	0	8627	680	24	4	2764	4	L1CAM	23	153135292	Missense_Mutation	SNP	C	TCGA-DH-A7UR-01A-11D-A33T-08	19755562	153135292	2135268	95	2923											
CLCA4	22802	broad.mit.edu	37	1	87043729	87043729	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-A7US-01A-11D-A33T-08	TCGA-DH-A7US-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a94ac1-015a-4f95-be04-1ae1bc582df1	785b4ba0-ae5f-464b-a257-06ff197f176f	g.chr1:87043729C>T	ENST00000370563.3	+	12	2138	c.2096C>T	c.(2095-2097)gCg>gTg	p.A699V	RP4-651E10.4_ENST00000456587.1_RNA	NM_012128.3	NP_036260.2	Q14CN2	CLCA4_HUMAN	chloride channel accessory 4	699						apical plasma membrane|extracellular region|integral to plasma membrane	chloride channel activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44		Lung NSC(277;0.238)		all cancers(265;0.0202)|Epithelial(280;0.0404)		AATAGAGCCGCGTACATACCA	0.403													19	16					0	0	1	0	0	T	87043729	C	T	87043729	3	4	66	1	0	0	0	0	1	0	0	0	3482	768	27	1	2142	1	CLCA4	1	87043729	Missense_Mutation	SNP	C	TCGA-DH-A7US-01A-11D-A33T-08		87043729	162206892	1	2924											
SMC6	79677	broad.mit.edu	37	2	17847757	17847757	+	Missense_Mutation	SNP	C	C	A			TCGA-DH-A7US-01A-11D-A33T-08	TCGA-DH-A7US-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a94ac1-015a-4f95-be04-1ae1bc582df1	785b4ba0-ae5f-464b-a257-06ff197f176f	g.chr2:17847757C>A	ENST00000448223.2	-	27	3360	c.3091G>T	c.(3091-3093)Gac>Tac	p.D1031Y	SMC6_ENST00000381272.4_Missense_Mutation_p.D1057Y|SMC6_ENST00000351948.4_Missense_Mutation_p.D1031Y|SMC6_ENST00000402989.1_Missense_Mutation_p.D1031Y	NM_001142286.1	NP_001135758.1	Q96SB8	SMC6_HUMAN	structural maintenance of chromosomes 6	1031					DNA recombination|DNA repair	chromosome|nucleus	ATP binding			NS(1)|biliary_tract(1)|breast(6)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					AGTATCAAGTCCATGGCAATT	0.373													14	88					3.45872e-05	3.59347e-05	1	1	0	A	17847757	C	A	17847757	3	1	66	1	0	0	0	0	1	0	0	0	14841	855	30	5	192	5	SMC6	2	17847757	Missense_Mutation	SNP	C	TCGA-DH-A7US-01A-11D-A33T-08		17847757	225351616	2	2925											
LTBP1	4052	broad.mit.edu	37	2	33518314	33518314	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-A7US-01A-11D-A33T-08	TCGA-DH-A7US-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a94ac1-015a-4f95-be04-1ae1bc582df1	785b4ba0-ae5f-464b-a257-06ff197f176f	g.chr2:33518314G>A	ENST00000404816.2	+	20	3553	c.3200G>A	c.(3199-3201)gGc>gAc	p.G1067D	LTBP1_ENST00000418533.2_Missense_Mutation_p.G741D|LTBP1_ENST00000354476.3_Missense_Mutation_p.G1068D|LTBP1_ENST00000407925.1_Missense_Mutation_p.G741D|LTBP1_ENST00000272273.5_Missense_Mutation_p.G7D|LTBP1_ENST00000402934.1_Missense_Mutation_p.G688D|LTBP1_ENST00000404525.1_Missense_Mutation_p.G688D|LTBP1_ENST00000498013.1_3'UTR|LTBP1_ENST00000390003.4_Missense_Mutation_p.G742D			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	1067	EGF-like 8; calcium-binding (Potential).				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				TGCCACAAAGGCTATACCCGG	0.413													76	95					0	0	1	0	0	A	33518314	G	A	33518314	3	1	66	1	0	0	0	0	1	0	0	0	9118	1203	42	2	3333	2	LTBP1	2	33518314	Missense_Mutation	SNP	G	TCGA-DH-A7US-01A-11D-A33T-08	15670557	33518314	209681059	3	2926											
LRP1B	53353	broad.mit.edu	37	2	141264436	141264436	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-A7US-01A-11D-A33T-08	TCGA-DH-A7US-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a94ac1-015a-4f95-be04-1ae1bc582df1	785b4ba0-ae5f-464b-a257-06ff197f176f	g.chr2:141264436C>T	ENST00000389484.3	-	53	9421	c.8450G>A	c.(8449-8451)tGc>tAc	p.C2817Y		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2817	LDL-receptor class A 18.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CTTGGGAATGCATACTTTATT	0.383										TSP Lung(27;0.18)			19	230					0	0	1	0	0	T	141264436	C	T	141264436	3	4	66	1	0	0	0	0	1	0	0	0	9000	710	25	2	5505	2	LRP1B	2	141264436	Missense_Mutation	SNP	C	TCGA-DH-A7US-01A-11D-A33T-08	107746122	141264436	101934937	4	2927											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-DH-A7US-01A-11D-A33T-08	TCGA-DH-A7US-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a94ac1-015a-4f95-be04-1ae1bc582df1	785b4ba0-ae5f-464b-a257-06ff197f176f	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								71	140					0	0	1	0	0	T	209113112	C	T	209113112	3	4	66	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-DH-A7US-01A-11D-A33T-08	67848676	209113112	34086261	5	2928											
SPEG	10290	broad.mit.edu	37	2	220299766	220299766	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DH-A7US-01A-11D-A33T-08	TCGA-DH-A7US-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a94ac1-015a-4f95-be04-1ae1bc582df1	785b4ba0-ae5f-464b-a257-06ff197f176f	g.chr2:220299766delC	ENST00000312358.7	+	1	199	c.67delC	c.(67-69)cccfs	p.P24fs		NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	24					muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		CCCCGGAGTGCCCCCGAAAAG	0.756													2	4	---	---	---	---						-	220299766	C	-	220299766	7	5	66	1	0	1	0	1	0	0	0	0	15092	739	26	0	69	0	SPEG	2	220299766	Frame_Shift_Del	DEL	C	TCGA-DH-A7US-01A-11D-A33T-08	11186654	220299766	22899607	6	2929											
STAB1	23166	broad.mit.edu	37	3	52546660	52546660	+	Splice_Site	SNP	G	G	A			TCGA-DH-A7US-01A-11D-A33T-08	TCGA-DH-A7US-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a94ac1-015a-4f95-be04-1ae1bc582df1	785b4ba0-ae5f-464b-a257-06ff197f176f	g.chr3:52546660G>A	ENST00000321725.6	+	28	3103		c.e28+1			NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1						cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		ATGGCTTAAGGTAGGACAGGG	0.562													29	136					0	0	1	0	0	A	52546660	G	A	52546660	5	1	66	1	0	0	0	0	0	0	1	0	15293	1275	44	2	3138	2	STAB1	3	52546660	Splice_Site	SNP	G	TCGA-DH-A7US-01A-11D-A33T-08		52546660	145475770	7	2930											
DNASE1L3	1776	broad.mit.edu	37	3	58191243	58191243	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-A7US-01A-11D-A33T-08	TCGA-DH-A7US-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a94ac1-015a-4f95-be04-1ae1bc582df1	785b4ba0-ae5f-464b-a257-06ff197f176f	g.chr3:58191243C>T	ENST00000483681.1	-	5	856	c.275G>A	c.(274-276)cGg>cAg	p.R92Q	DNASE1L3_ENST00000318316.3_Missense_Mutation_p.R92Q|DNASE1L3_ENST00000486455.1_Intron|DNASE1L3_ENST00000394549.2_Missense_Mutation_p.R92Q			Q13609	DNSL3_HUMAN	deoxyribonuclease I-like 3	92					apoptosis|DNA catabolic process	nucleus	calcium ion binding|DNA binding|endodeoxyribonuclease activity, producing 5'-phosphomonoesters			breast(2)|large_intestine(4)|lung(6)	12				BRCA - Breast invasive adenocarcinoma(55;0.00021)|KIRC - Kidney renal clear cell carcinoma(284;0.0445)|Kidney(284;0.0556)|OV - Ovarian serous cystadenocarcinoma(275;0.202)		TCTTCCAAGCCGAGAGCTAAT	0.378													6	298					0	0	1	0	0	T	58191243	C	T	58191243	3	4	66	1	0	0	0	0	1	0	0	0	4690	652	23	1	666	1	DNASE1L3	3	58191243	Missense_Mutation	SNP	C	TCGA-DH-A7US-01A-11D-A33T-08	5644583	58191243	139831187	8	2931											
OR5H14	403273	broad.mit.edu	37	3	97868352	97868352	+	Silent	SNP	G	G	A			TCGA-DH-A7US-01A-11D-A33T-08	TCGA-DH-A7US-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a94ac1-015a-4f95-be04-1ae1bc582df1	785b4ba0-ae5f-464b-a257-06ff197f176f	g.chr3:97868352G>A	ENST00000437310.1	+	1	183	c.123G>A	c.(121-123)ggG>ggA	p.G41G		NM_001005514.1	NP_001005514.1	A6NHG9	O5H14_HUMAN	olfactory receptor, family 5, subfamily H, member 14	41					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						CCATCATGGGGAATCTTGGTC	0.403													199	361					0	0	1	0	0	A	97868352	G	A	97868352	2	1	66	1	0	0	0	0	0	0	0	1	11207	1161	41	2		2	OR5H14	3	97868352	Silent	SNP	G	TCGA-DH-A7US-01A-11D-A33T-08	39677109	97868352	100154078	9	2932											
ZBTB20	26137	broad.mit.edu	37	3	114058118	114058118	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-A7US-01A-11D-A33T-08	TCGA-DH-A7US-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a94ac1-015a-4f95-be04-1ae1bc582df1	785b4ba0-ae5f-464b-a257-06ff197f176f	g.chr3:114058118G>A	ENST00000462705.1	-	12	2562	c.1741C>T	c.(1741-1743)Cgc>Tgc	p.R581C	ZBTB20_ENST00000464560.1_Missense_Mutation_p.R581C|ZBTB20_ENST00000393785.2_Missense_Mutation_p.R581C|ZBTB20_ENST00000471418.1_Missense_Mutation_p.R581C|ZBTB20_ENST00000357258.3_Missense_Mutation_p.R581C|ZBTB20_ENST00000481632.1_Missense_Mutation_p.R581C|ZBTB20_ENST00000474710.1_Missense_Mutation_p.R654C	NM_001164343.1	NP_001157815.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	654					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		CGGTGGAGGCGCATGTGCACG	0.552													26	289					0	0	1	0	0	A	114058118	G	A	114058118	3	1	66	1	0	0	0	0	1	0	0	0	17588	1087	38	1	269	1	ZBTB20	3	114058118	Missense_Mutation	SNP	G	TCGA-DH-A7US-01A-11D-A33T-08	16189766	114058118	83964312	10	2933											
ZBTB20	26137	broad.mit.edu	37	3	114070191	114070191	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-A7US-01A-11D-A33T-08	TCGA-DH-A7US-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a94ac1-015a-4f95-be04-1ae1bc582df1	785b4ba0-ae5f-464b-a257-06ff197f176f	g.chr3:114070191G>A	ENST00000462705.1	-	11	1336	c.515C>T	c.(514-516)tCg>tTg	p.S172L	ZBTB20_ENST00000464560.1_Missense_Mutation_p.S172L|ZBTB20_ENST00000393785.2_Missense_Mutation_p.S172L|ZBTB20_ENST00000471418.1_Missense_Mutation_p.S172L|ZBTB20_ENST00000357258.3_Missense_Mutation_p.S172L|ZBTB20_ENST00000481632.1_Missense_Mutation_p.S172L|ZBTB20_ENST00000474710.1_Missense_Mutation_p.S245L	NM_001164343.1	NP_001157815.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	245					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		GTAGAGTGCCGAGTAGATCCT	0.672													21	126					0	0	1	0	0	A	114070191	G	A	114070191	3	1	66	1	0	0	0	0	1	0	0	0	17588	1059	37	1	1499	1	ZBTB20	3	114070191	Missense_Mutation	SNP	G	TCGA-DH-A7US-01A-11D-A33T-08	12073	114070191	83952239	11	2934											
GRK4	2868	broad.mit.edu	37	4	3015524	3015524	+	Missense_Mutation	SNP	G	G	T			TCGA-DH-A7US-01A-11D-A33T-08	TCGA-DH-A7US-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a94ac1-015a-4f95-be04-1ae1bc582df1	785b4ba0-ae5f-464b-a257-06ff197f176f	g.chr4:3015524G>T	ENST00000398052.4	+	8	1053	c.710G>T	c.(709-711)aGa>aTa	p.R237I	GRK4_ENST00000398051.4_Missense_Mutation_p.R205I|GRK4_ENST00000504933.1_Missense_Mutation_p.R237I|GRK4_ENST00000345167.6_Missense_Mutation_p.R205I	NM_182982.2	NP_892027.2	P32298	GRK4_HUMAN	G protein-coupled receptor kinase 4	237	Protein kinase.					cell cortex	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity			lung(1)|upper_aerodigestive_tract(1)	2				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		AATGAGAAAAGAATTCTGGAG	0.398													15	192					1.49906e-05	1.57796e-05	1	1	0	T	3015524	G	T	3015524	3	4	66	1	0	0	0	0	1	0	0	0	6832	942	33	4	740	4	GRK4	4	3015524	Missense_Mutation	SNP	G	TCGA-DH-A7US-01A-11D-A33T-08		3015524	188138752	12	2935											
FRAS1	80144	broad.mit.edu	37	4	79328944	79328944	+	Silent	SNP	A	A	G	rs115193980	by1000genomes	TCGA-DH-A7US-01A-11D-A33T-08	TCGA-DH-A7US-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a94ac1-015a-4f95-be04-1ae1bc582df1	785b4ba0-ae5f-464b-a257-06ff197f176f	g.chr4:79328944A>G	ENST00000264895.6	+	31	4697	c.4257A>G	c.(4255-4257)gtA>gtG	p.V1419V	FRAS1_ENST00000325942.6_Silent_p.V1419V	NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	1418					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						AAGGCATCGTATGGTACAGGC	0.567													6	67					0	0	1	0	0	G	79328944	A	G	79328944	2	3	66	1	0	0	0	0	0	0	0	1	6076	436	16	3		3	FRAS1	4	79328944	Silent	SNP	A	TCGA-DH-A7US-01A-11D-A33T-08	76313420	79328944	111825332	13	2936											
TNIP3	79931	broad.mit.edu	37	4	122085268	122085268	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-A7US-01A-11D-A33T-08	TCGA-DH-A7US-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a94ac1-015a-4f95-be04-1ae1bc582df1	785b4ba0-ae5f-464b-a257-06ff197f176f	g.chr4:122085268C>T	ENST00000454328.1	-	3	240	c.13G>A	c.(13-15)Gta>Ata	p.V5I	TNIP3_ENST00000057513.3_Missense_Mutation_p.V5I|TNIP3_ENST00000507879.1_Missense_Mutation_p.V75I|TNIP3_ENST00000509841.1_Missense_Mutation_p.V82I			Q96KP6	TNIP3_HUMAN	TNFAIP3 interacting protein 3	5										NS(1)|endometrium(4)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(2)	24						GTGCCCTGTACAAAATGTGCC	0.398													6	203					0	0	1	0	0	T	122085268	C	T	122085268	3	4	66	1	0	0	0	0	1	0	0	0	16376	478	17	2	1008	2	TNIP3	4	122085268	Missense_Mutation	SNP	C	TCGA-DH-A7US-01A-11D-A33T-08	42756324	122085268	69069008	14	2937											
CDH10	1008	broad.mit.edu	37	5	24492973	24492973	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DH-A7US-01A-11D-A33T-08	TCGA-DH-A7US-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a94ac1-015a-4f95-be04-1ae1bc582df1	785b4ba0-ae5f-464b-a257-06ff197f176f	g.chr5:24492973delA	ENST00000264463.4	-	10	2084	c.1577delT	c.(1576-1578)ttcfs	p.F526fs	CDH10_ENST00000502921.1_5'UTR	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	526	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		AGCTAAACTGAAAAAAAATTT	0.313										HNSCC(23;0.051)			8	600	---	---	---	---						-	24492973	A	-	24492973	7	5	66	1	0	1	0	1	0	0	0	0	3118	246	9	0	801	0	CDH10	5	24492973	Frame_Shift_Del	DEL	A	TCGA-DH-A7US-01A-11D-A33T-08		24492973	156422287	15	2938											
SLC26A2	1836	broad.mit.edu	37	5	149359993	149359993	+	Silent	SNP	G	G	A			TCGA-DH-A7US-01A-11D-A33T-08	TCGA-DH-A7US-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a94ac1-015a-4f95-be04-1ae1bc582df1	785b4ba0-ae5f-464b-a257-06ff197f176f	g.chr5:149359993G>A	ENST00000286298.4	+	3	1105	c.837G>A	c.(835-837)cgG>cgA	p.R279R		NM_000112.3	NP_000103.2	P50443	S26A2_HUMAN	solute carrier family 26 (anion exchanger), member 2	279			R -> W (in AO2).			integral to plasma membrane|membrane fraction	secondary active sulfate transmembrane transporter activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(1)|prostate(2)|stomach(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			ACCTTCCTCGGACTAATGGTG	0.463													50	207					0	0	1	0	0	A	149359993	G	A	149359993	2	1	66	1	0	0	0	0	0	0	0	1	14572	1161	41	2		2	SLC26A2	5	149359993	Silent	SNP	G	TCGA-DH-A7US-01A-11D-A33T-08	124867020	149359993	31555267	16	2939											
ARSI	340075	broad.mit.edu	37	5	149677437	149677437	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DH-A7US-01A-11D-A33T-08	TCGA-DH-A7US-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a94ac1-015a-4f95-be04-1ae1bc582df1	785b4ba0-ae5f-464b-a257-06ff197f176f	g.chr5:149677437C>T	ENST00000328668.7	-	2	1629	c.1050G>A	c.(1048-1050)tgG>tgA	p.W350*		NM_001012301.2	NP_001012301.1	Q5FYB1	ARSI_HUMAN	arylsulfatase family, member I	350						endoplasmic reticulum|extracellular region	arylsulfatase activity|metal ion binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGGTCGGGTACCAGTCAGTGA	0.637													14	86					0	0	1	0	0	T	149677437	C	T	149677437	4	4	66	1	0	0	0	0	0	1	0	0	993	508	18	2	663	2	ARSI	5	149677437	Nonsense_Mutation	SNP	C	TCGA-DH-A7US-01A-11D-A33T-08	317444	149677437	31237823	17	2940											
CDHR2	54825	broad.mit.edu	37	5	176016160	176016160	+	Silent	SNP	C	C	T			TCGA-DH-A7US-01A-11D-A33T-08	TCGA-DH-A7US-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a94ac1-015a-4f95-be04-1ae1bc582df1	785b4ba0-ae5f-464b-a257-06ff197f176f	g.chr5:176016160C>T	ENST00000510636.1	+	22	3259	c.2985C>T	c.(2983-2985)gcC>gcT	p.A995A	CDHR2_ENST00000261944.5_Silent_p.A995A|CDHR2_ENST00000506348.1_Silent_p.A995A	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	995	Cadherin 9.				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						CCTCCGAGGCCGACGTGTTCG	0.622													31	374					0	0	1	0	0	T	176016160	C	T	176016160	2	4	66	1	0	0	0	0	0	0	0	1	3141	639	23	1		1	CDHR2	5	176016160	Silent	SNP	C	TCGA-DH-A7US-01A-11D-A33T-08	26338723	176016160	4899100	18	2941											
ZNF184	7738	broad.mit.edu	37	6	27420810	27420810	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DH-A7US-01A-11D-A33T-08	TCGA-DH-A7US-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a94ac1-015a-4f95-be04-1ae1bc582df1	785b4ba0-ae5f-464b-a257-06ff197f176f	g.chr6:27420810delT	ENST00000211936.6	-	6	812	c.528delA	c.(526-528)aaafs	p.K176fs	ZNF184_ENST00000377419.1_Frame_Shift_Del_p.K176fs	NM_007149.2	NP_009080.2	Q99676	ZN184_HUMAN	zinc finger protein 184	176					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						TTACAGGGCCTTTTTCCCAAC	0.408													7	571	---	---	---	---						-	27420810	T	-	27420810	7	5	66	1	0	1	0	1	0	0	0	0	17809	1606	56	0	1731	0	ZNF184	6	27420810	Frame_Shift_Del	DEL	T	TCGA-DH-A7US-01A-11D-A33T-08		27420810	143694257	19	2942											
LACE1	246269	broad.mit.edu	37	6	108841010	108841010	+	Silent	SNP	C	C	T			TCGA-DH-A7US-01A-11D-A33T-08	TCGA-DH-A7US-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a94ac1-015a-4f95-be04-1ae1bc582df1	785b4ba0-ae5f-464b-a257-06ff197f176f	g.chr6:108841010C>T	ENST00000368977.4	+	12	1500	c.1314C>T	c.(1312-1314)agC>agT	p.S438S		NM_145315.3	NP_660358.2	Q8WV93	LACE1_HUMAN	lactation elevated 1	438							ATP binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	15		all_cancers(87;1.5e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;6.79e-05)|Colorectal(196;0.0294)|all_lung(197;0.0486)|Lung SC(18;0.152)		BRCA - Breast invasive adenocarcinoma(108;0.00179)|Epithelial(106;0.0024)|all cancers(137;0.00379)|OV - Ovarian serous cystadenocarcinoma(136;0.0118)		TGGGGCTGAGCCAGGTAGGCG	0.368													4	161					0	0	1	0	0	T	108841010	C	T	108841010	2	4	66	1	0	0	0	0	0	0	0	1	8634	738	26	2		2	LACE1	6	108841010	Silent	SNP	C	TCGA-DH-A7US-01A-11D-A33T-08	81420200	108841010	62274057	20	2943											
EPHB4	2050	broad.mit.edu	37	7	100417218	100417218	+	Missense_Mutation	SNP	C	C	T	rs61735975	byFrequency	TCGA-DH-A7US-01A-11D-A33T-08	TCGA-DH-A7US-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a94ac1-015a-4f95-be04-1ae1bc582df1	785b4ba0-ae5f-464b-a257-06ff197f176f	g.chr7:100417218C>T	ENST00000358173.3	-	6	1726	c.1258G>A	c.(1258-1260)Gtc>Atc	p.V420I	EPHB4_ENST00000477446.1_5'UTR|EPHB4_ENST00000360620.3_Missense_Mutation_p.V420I	NM_004444.4	NP_004435.3	P54760	EPHB4_HUMAN	EPH receptor B4	420	Fibronectin type-III 1.				cell proliferation|organ morphogenesis|regulation of angiogenesis	cell surface|integral to plasma membrane	ATP binding|ephrin receptor activity	p.V420I(1)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47	Lung NSC(181;0.041)|all_lung(186;0.0581)					TCAAATGGGACGGGCCCCGTG	0.612													9	219					0	0	1	0	0	T	100417218	C	T	100417218	3	4	66	1	0	0	0	0	1	0	0	0	5205	536	19	1	1753	1	EPHB4	7	100417218	Missense_Mutation	SNP	C	TCGA-DH-A7US-01A-11D-A33T-08		100417218	58721445	21	2944											
IFNW1	3467	broad.mit.edu	37	9	21141038	21141038	+	Missense_Mutation	SNP	A	A	C			TCGA-DH-A7US-01A-11D-A33T-08	TCGA-DH-A7US-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a94ac1-015a-4f95-be04-1ae1bc582df1	785b4ba0-ae5f-464b-a257-06ff197f176f	g.chr9:21141038A>C	ENST00000380229.2	-	1	1106	c.532T>G	c.(532-534)Tca>Gca	p.S178A		NM_002177.1	NP_002168.1	P05000	IFNW1_HUMAN	interferon, omega 1	178					cell cycle arrest|defense response|response to virus	extracellular space	cytokine activity|cytokine receptor binding			endometrium(1)|kidney(1)|lung(2)|ovary(1)	5				GBM - Glioblastoma multiforme(5;2.35e-185)|Lung(24;2.24e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		ATGTTTGTTGATAAGAACAAG	0.398													6	195					0	0	1	0	0	C	21141038	A	C	21141038	3	2	66	1	0	0	0	0	1	0	0	0	7596	333	12	4	59	4	IFNW1	9	21141038	Missense_Mutation	SNP	A	TCGA-DH-A7US-01A-11D-A33T-08		21141038	120072393	22	2945											
DAB2IP	153090	broad.mit.edu	37	9	124528875	124528875	+	Silent	SNP	C	C	G			TCGA-DH-A7US-01A-11D-A33T-08	TCGA-DH-A7US-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a94ac1-015a-4f95-be04-1ae1bc582df1	785b4ba0-ae5f-464b-a257-06ff197f176f	g.chr9:124528875C>G	ENST00000408936.3	+	9	1745	c.1563C>G	c.(1561-1563)ctC>ctG	p.L521L	DAB2IP_ENST00000309989.1_Silent_p.L397L|DAB2IP_ENST00000259371.2_Silent_p.L493L			Q5VWQ8	DAB2P_HUMAN	DAB2 interacting protein	521	Ras-GAP.				activation of JUN kinase activity|apoptosis in response to endoplasmic reticulum stress|cellular response to epidermal growth factor stimulus|cellular response to tumor necrosis factor|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of Ras GTPase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|intrinsic to internal side of plasma membrane	14-3-3 protein binding|death receptor binding|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity|protein phosphatase 2A binding|Ras GTPase activator activity|signaling adaptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	27						GCGCCTCCCTCTTCCTGCGCT	0.632													83	118					0	0	1	0	0	G	124528875	C	G	124528875	2	3	66	1	0	0	0	0	0	0	0	1	4243	900	32	4		4	DAB2IP	9	124528875	Silent	SNP	C	TCGA-DH-A7US-01A-11D-A33T-08	103387837	124528875	16684556	23	2946											
DLG5	9231	broad.mit.edu	37	10	79555866	79555866	+	Missense_Mutation	SNP	G	G	T			TCGA-DH-A7US-01A-11D-A33T-08	TCGA-DH-A7US-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a94ac1-015a-4f95-be04-1ae1bc582df1	785b4ba0-ae5f-464b-a257-06ff197f176f	g.chr10:79555866G>T	ENST00000372391.2	-	29	5394	c.5389C>A	c.(5389-5391)Cat>Aat	p.H1797N	DLG5_ENST00000372388.2_Missense_Mutation_p.H1457N|DLG5_ENST00000459739.1_5'UTR	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	1797	Guanylate kinase-like.				cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			ACATCGAAATGGCCGCTTCTC	0.522													6	260					0.00198382	0.00203469	1	1	0	T	79555866	G	T	79555866	3	4	66	1	0	0	0	0	1	0	0	0	4586	1348	47	5	386	5	DLG5	10	79555866	Missense_Mutation	SNP	G	TCGA-DH-A7US-01A-11D-A33T-08		79555866	55978881	24	2947											
ELP4	26610	broad.mit.edu	37	11	31561248	31561248	+	Missense_Mutation	SNP	A	A	G			TCGA-DH-A7US-01A-11D-A33T-08	TCGA-DH-A7US-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a94ac1-015a-4f95-be04-1ae1bc582df1	785b4ba0-ae5f-464b-a257-06ff197f176f	g.chr11:31561248A>G	ENST00000395934.2	+	3	306	c.299A>G	c.(298-300)aAg>aGg	p.K100R	ELP4_ENST00000379163.5_Missense_Mutation_p.K100R|ELP4_ENST00000350638.5_Missense_Mutation_p.K100R			Q96EB1	ELP4_HUMAN	elongator acetyltransferase complex subunit 4	100					histone acetylation|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|Elongator holoenzyme complex|transcription elongation factor complex	phosphorylase kinase regulator activity|protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)	20	Lung SC(675;0.225)					TTGCTCTTCAAGTATTTCCTG	0.348													80	230					0	0	1	0	0	G	31561248	A	G	31561248	3	3	66	1	0	0	0	0	1	0	0	0	5110	72	3	3	309	3	ELP4	11	31561248	Missense_Mutation	SNP	A	TCGA-DH-A7US-01A-11D-A33T-08		31561248	103445268	25	2948											
OR1S2	219958	broad.mit.edu	37	11	57971193	57971193	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-A7US-01A-11D-A33T-08	TCGA-DH-A7US-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a94ac1-015a-4f95-be04-1ae1bc582df1	785b4ba0-ae5f-464b-a257-06ff197f176f	g.chr11:57971193C>T	ENST00000302592.6	-	1	460	c.461G>A	c.(460-462)gGc>gAc	p.G154D		NM_001004459.1	NP_001004459.1	Q8NGQ3	OR1S2_HUMAN	olfactory receptor, family 1, subfamily S, member 2	154					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(11)|kidney(1)|large_intestine(4)|lung(23)|ovary(2)|skin(2)|stomach(2)|urinary_tract(1)	46		Breast(21;0.0589)				GAGCAAAGTGCCGAACCTGGC	0.488													5	334					0	0	1	0	0	T	57971193	C	T	57971193	3	4	66	1	0	0	0	0	1	0	0	0	11021	739	26	2	519	2	OR1S2	11	57971193	Missense_Mutation	SNP	C	TCGA-DH-A7US-01A-11D-A33T-08	26409945	57971193	77035323	26	2949											
ZBTB16	7704	broad.mit.edu	37	11	114112981	114112981	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-A7US-01A-11D-A33T-08	TCGA-DH-A7US-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a94ac1-015a-4f95-be04-1ae1bc582df1	785b4ba0-ae5f-464b-a257-06ff197f176f	g.chr11:114112981C>T	ENST00000335953.4	+	5	1926	c.1546C>T	c.(1546-1548)Cgc>Tgc	p.R516C	ZBTB16_ENST00000535379.1_3'UTR|RP11-64D24.2_ENST00000544925.1_RNA|ZBTB16_ENST00000392996.2_Missense_Mutation_p.R516C	NM_006006.4	NP_005997.2	Q05516	ZBT16_HUMAN	zinc finger and BTB domain containing 16	516					apoptosis|central nervous system development|mesonephros development|myeloid cell differentiation|negative regulation of myeloid cell differentiation|negative regulation of transcription, DNA-dependent	nuclear speck|PML body|transcriptional repressor complex	protein homodimerization activity|zinc ion binding			central_nervous_system(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(2)	6		all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438)		BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018)		CGCGGGCGTGCGCAGCTACAT	0.627													27	59					0	0	1	0	0	T	114112981	C	T	114112981	3	4	66	1	0	0	0	0	1	0	0	0	17585	768	27	1	1560	1	ZBTB16	11	114112981	Missense_Mutation	SNP	C	TCGA-DH-A7US-01A-11D-A33T-08	56141788	114112981	20893535	27	2950											
GRIK4	2900	broad.mit.edu	37	11	120776054	120776054	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-A7US-01A-11D-A33T-08	TCGA-DH-A7US-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a94ac1-015a-4f95-be04-1ae1bc582df1	785b4ba0-ae5f-464b-a257-06ff197f176f	g.chr11:120776054G>A	ENST00000527524.2	+	13	1615	c.1328G>A	c.(1327-1329)cGc>cAc	p.R443H	GRIK4_ENST00000438375.2_Missense_Mutation_p.R443H	NM_001282470.1	NP_001269399.1	Q16099	GRIK4_HUMAN	glutamate receptor, ionotropic, kainate 4	443					glutamate signaling pathway|synaptic transmission	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	p.R443H(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)	L-Glutamic Acid(DB00142)	GGCAATGACCGCTACGAGGGC	0.547													5	408					0	0	1	0	0	A	120776054	G	A	120776054	3	1	66	1	0	0	0	0	1	0	0	0	6817	1087	38	1	1370	1	GRIK4	11	120776054	Missense_Mutation	SNP	G	TCGA-DH-A7US-01A-11D-A33T-08	6663073	120776054	14230462	28	2951											
OR8D1	283159	broad.mit.edu	37	11	124180055	124180055	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-A7US-01A-11D-A33T-08	TCGA-DH-A7US-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a94ac1-015a-4f95-be04-1ae1bc582df1	785b4ba0-ae5f-464b-a257-06ff197f176f	g.chr11:124180055G>A	ENST00000357821.2	-	1	678	c.608C>T	c.(607-609)gCg>gTg	p.A203V		NM_001002917.1	NP_001002917.1	Q8WZ84	OR8D1_HUMAN	olfactory receptor, family 8, subfamily D, member 1	203					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A203V(1)		kidney(1)|large_intestine(1)|lung(7)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)		GTTAAACCCCGCAATGATAAA	0.488													14	47					0	0	1	0	0	A	124180055	G	A	124180055	3	1	66	1	0	0	0	0	1	0	0	0	11278	1087	38	1	321	1	OR8D1	11	124180055	Missense_Mutation	SNP	G	TCGA-DH-A7US-01A-11D-A33T-08	3404001	124180055	10826461	29	2952											
NFRKB	4798	broad.mit.edu	37	11	129739660	129739660	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-A7US-01A-11D-A33T-08	TCGA-DH-A7US-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a94ac1-015a-4f95-be04-1ae1bc582df1	785b4ba0-ae5f-464b-a257-06ff197f176f	g.chr11:129739660G>A	ENST00000446488.3	-	23	3363	c.3260C>T	c.(3259-3261)aCg>aTg	p.T1087M	NFRKB_ENST00000524794.1_Missense_Mutation_p.T1112M|NFRKB_ENST00000524746.1_Missense_Mutation_p.T1087M|NFRKB_ENST00000304521.5_Missense_Mutation_p.T1087M	NM_001143835.1	NP_001137307.1	Q6P4R8	NFRKB_HUMAN	nuclear factor related to kappaB binding protein	1087					DNA recombination|DNA repair|inflammatory response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Ino80 complex	DNA binding|protease binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(13)|ovary(4)|skin(3)|urinary_tract(1)	32	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184)		GATGCGGATCGTGGCAGCTGG	0.592													4	229					0	0	1	0	0	A	129739660	G	A	129739660	3	1	66	1	0	0	0	0	1	0	0	0	10431	1145	40	1	655	1	NFRKB	11	129739660	Missense_Mutation	SNP	G	TCGA-DH-A7US-01A-11D-A33T-08	5559605	129739660	5266856	30	2953											
RFX4	5992	broad.mit.edu	37	12	107144431	107144431	+	Splice_Site	SNP	A	A	G			TCGA-DH-A7US-01A-11D-A33T-08	TCGA-DH-A7US-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a94ac1-015a-4f95-be04-1ae1bc582df1	785b4ba0-ae5f-464b-a257-06ff197f176f	g.chr12:107144431A>G	ENST00000392842.1	+	17	2210		c.e17-1		RFX4_ENST00000229387.5_Splice_Site|RP11-144F15.1_ENST00000551505.1_Intron|RFX4_ENST00000357881.4_Splice_Site	NM_213594.2	NP_998759.1	Q33E94	RFX4_HUMAN	regulatory factor X, 4 (influences HLA class II expression)						transcription, DNA-dependent	nucleus	DNA binding			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(20)|pancreas(1)|upper_aerodigestive_tract(1)	35						GATGCATTTTAGATACACGGG	0.423													6	591					0	0	1	0	0	G	107144431	A	G	107144431	5	3	66	1	0	0	0	0	0	0	1	0	13317	434	15	3	2066	3	RFX4	12	107144431	Splice_Site	SNP	A	TCGA-DH-A7US-01A-11D-A33T-08		107144431	26707464	31	2954											
SDS	10993	broad.mit.edu	37	12	113836598	113836598	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-A7US-01A-11D-A33T-08	TCGA-DH-A7US-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a94ac1-015a-4f95-be04-1ae1bc582df1	785b4ba0-ae5f-464b-a257-06ff197f176f	g.chr12:113836598C>T	ENST00000257549.4	-	4	369	c.247G>A	c.(247-249)Gcc>Acc	p.A83T		NM_006843.2	NP_006834.2	P20132	SDHL_HUMAN	serine dehydratase	83					gluconeogenesis|L-serine catabolic process|pyruvate biosynthetic process	cytoplasm	L-serine ammonia-lyase activity|L-threonine ammonia-lyase activity|protein homodimerization activity|pyridoxal phosphate binding			large_intestine(2)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(1)	11					L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	ACGATGGTGGCGGGGACGCCG	0.662													16	33					0	0	1	0	0	T	113836598	C	T	113836598	3	4	66	1	0	0	0	0	1	0	0	0	14029	768	27	1	759	1	SDS	12	113836598	Missense_Mutation	SNP	C	TCGA-DH-A7US-01A-11D-A33T-08	6692167	113836598	20015297	32	2955											
ATP7B	540	broad.mit.edu	37	13	52516581	52516581	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-A7US-01A-11D-A33T-08	TCGA-DH-A7US-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a94ac1-015a-4f95-be04-1ae1bc582df1	785b4ba0-ae5f-464b-a257-06ff197f176f	g.chr13:52516581C>T	ENST00000242839.4	-	15	3509	c.3353G>A	c.(3352-3354)cGc>cAc	p.R1118H	ATP7B_ENST00000418097.2_Missense_Mutation_p.R1053H|ATP7B_ENST00000400366.3_Missense_Mutation_p.R1007H|ATP7B_ENST00000344297.5_Missense_Mutation_p.R911H|ATP7B_ENST00000448424.2_Missense_Mutation_p.R1040H|ATP7B_ENST00000417240.2_Missense_Mutation_p.R329H|ATP7B_ENST00000400370.3_Missense_Mutation_p.R688H|ATP7B_ENST00000482841.1_5'UTR	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	1118					ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)		ACTCAAAGGGCGCTCACTGTG	0.557									Wilson disease				49	90					0	0	1	0	0	T	52516581	C	T	52516581	3	4	66	1	0	0	0	0	1	0	0	0	1189	768	27	1	1072	1	ATP7B	13	52516581	Missense_Mutation	SNP	C	TCGA-DH-A7US-01A-11D-A33T-08		52516581	62653297	33	2956											
CFL2	1073	broad.mit.edu	37	14	35182753	35182754	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-DH-A7US-01A-11D-A33T-08	TCGA-DH-A7US-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a94ac1-015a-4f95-be04-1ae1bc582df1	785b4ba0-ae5f-464b-a257-06ff197f176f	g.chr14:35182753_35182754delTG	ENST00000341223.3	-	2	168_169	c.17_18delCA	c.(16-18)acafs	p.T6fs	CFL2_ENST00000555765.1_5'UTR|CFL2_ENST00000556161.1_5'UTR|CFL2_ENST00000298159.6_Frame_Shift_Del_p.T6fs	NM_001243645.1|NM_021914.7	NP_001230574.1|NP_068733.1	Q9Y281	COF2_HUMAN	cofilin 2 (muscle)	6	ADF-H.					cytoplasm|cytoskeleton|nuclear matrix	actin binding			breast(3)|endometrium(2)|lung(3)	8	Breast(36;0.0361)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;6.07e-06)|Lung(238;2.23e-05)|Epithelial(34;0.0387)|all cancers(34;0.0814)	GBM - Glioblastoma multiforme(112;0.0424)		CATCATTCACTGTAACTCCAGA	0.332													48	97	---	---	---	---						-	35182754	TG	-	35182753	7	5	66	1	0	1	0	1	0	0	0	0	3313	1567	55	0	494	0	CFL2	14	35182753	Frame_Shift_Del	DEL	TG	TCGA-DH-A7US-01A-11D-A33T-08		35182753	72166787	34	2957											
SERPINA3	12	broad.mit.edu	37	14	95085747	95085747	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-A7US-01A-11D-A33T-08	TCGA-DH-A7US-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a94ac1-015a-4f95-be04-1ae1bc582df1	785b4ba0-ae5f-464b-a257-06ff197f176f	g.chr14:95085747G>A	ENST00000467132.1	+	3	2007	c.859G>A	c.(859-861)Gtg>Atg	p.V287M	SERPINA3_ENST00000482740.1_Missense_Mutation_p.V69M|SERPINA3_ENST00000393078.3_Missense_Mutation_p.V287M|RP11-986E7.7_ENST00000553947.1_3'UTR|SERPINA3_ENST00000393080.4_Missense_Mutation_p.V287M			P01011	AACT_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3	287					acute-phase response|maintenance of gastrointestinal epithelium|regulation of lipid metabolic process|regulation of proteolysis	extracellular region|nucleus	DNA binding|protein binding|serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(17)|ovary(2)|pancreas(1)|skin(3)|stomach(1)	40		all_cancers(154;0.0525)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228)		GATGGAGGAAGTGGAAGCCAT	0.577													14	66					0	0	1	0	0	A	95085747	G	A	95085747	3	1	66	1	0	0	0	0	1	0	0	0	14144	1029	36	2	865	2	SERPINA3	14	95085747	Missense_Mutation	SNP	G	TCGA-DH-A7US-01A-11D-A33T-08	59902994	95085747	12263793	35	2958											
GANC	2595	broad.mit.edu	37	15	42614214	42614214	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-A7US-01A-11D-A33T-08	TCGA-DH-A7US-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a94ac1-015a-4f95-be04-1ae1bc582df1	785b4ba0-ae5f-464b-a257-06ff197f176f	g.chr15:42614214G>A	ENST00000318010.8	+	11	1529	c.1289G>A	c.(1288-1290)cGt>cAt	p.R430H		NM_198141.2	NP_937784.2	Q8TET4	GANC_HUMAN	glucosidase, alpha; neutral C	430					carbohydrate metabolic process		carbohydrate binding|maltose alpha-glucosidase activity			breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_cancers(109;3.08e-16)|all_epithelial(112;7.48e-15)|Lung NSC(122;3.08e-09)|all_lung(180;1.48e-08)|Melanoma(134;0.0574)|Colorectal(260;0.153)		GBM - Glioblastoma multiforme(94;1.06e-06)		AGCAAAAAGCGTAAGGTAAAA	0.423													3	40					0	0	1	0	0	A	42614214	G	A	42614214	3	1	66	1	0	0	0	0	1	0	0	0	6274	1145	40	1	1331	1	GANC	15	42614214	Missense_Mutation	SNP	G	TCGA-DH-A7US-01A-11D-A33T-08		42614214	59917178	36	2959											
IGDCC4	57722	broad.mit.edu	37	15	65682659	65682659	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-A7US-01A-11D-A33T-08	TCGA-DH-A7US-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a94ac1-015a-4f95-be04-1ae1bc582df1	785b4ba0-ae5f-464b-a257-06ff197f176f	g.chr15:65682659C>T	ENST00000352385.2	-	13	2451	c.2242G>A	c.(2242-2244)Gga>Aga	p.G748R		NM_020962.1	NP_066013.1	Q8TDY8	IGDC4_HUMAN	immunoglobulin superfamily, DCC subclass, member 4	748						integral to membrane|plasma membrane				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						AGGGGTGGTCCCCTCTGGATA	0.498													38	59					0	0	1	0	0	T	65682659	C	T	65682659	3	4	66	1	0	0	0	0	1	0	0	0	7613	632	22	2	1542	2	IGDCC4	15	65682659	Missense_Mutation	SNP	C	TCGA-DH-A7US-01A-11D-A33T-08	23068445	65682659	36848733	37	2960											
GRAMD2	196996	broad.mit.edu	37	15	72460091	72460091	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-A7US-01A-11D-A33T-08	TCGA-DH-A7US-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a94ac1-015a-4f95-be04-1ae1bc582df1	785b4ba0-ae5f-464b-a257-06ff197f176f	g.chr15:72460091C>T	ENST00000309731.7	-	5	371	c.358G>A	c.(358-360)Ggc>Agc	p.G120S		NM_001012642.2	NP_001012660.1	Q8IUY3	GRAM2_HUMAN	GRAM domain containing 2	120	GRAM.					integral to membrane				cervix(2)|endometrium(1)|large_intestine(4)|lung(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	13						ATATCCTTGCCAAAGAGGCTG	0.587													5	159					0	0	1	0	0	T	72460091	C	T	72460091	3	4	66	1	0	0	0	0	1	0	0	0	6791	594	21	2	738	2	GRAMD2	15	72460091	Missense_Mutation	SNP	C	TCGA-DH-A7US-01A-11D-A33T-08	6777432	72460091	30071301	38	2961											
RASGRF1	5923	broad.mit.edu	37	15	79296448	79296448	+	Silent	SNP	C	C	T			TCGA-DH-A7US-01A-11D-A33T-08	TCGA-DH-A7US-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a94ac1-015a-4f95-be04-1ae1bc582df1	785b4ba0-ae5f-464b-a257-06ff197f176f	g.chr15:79296448C>T	ENST00000419573.3	-	16	2467	c.2193G>A	c.(2191-2193)ccG>ccA	p.P731P	RASGRF1_ENST00000394745.3_5'UTR|RASGRF1_ENST00000558480.2_Silent_p.P715P|RASGRF1_ENST00000560334.1_5'UTR	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	731	N-terminal Ras-GEF.				activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						GGGTGGCGCGCGGGGACTTGG	0.622													64	103					0	0	1	0	0	T	79296448	C	T	79296448	2	4	66	1	0	0	0	0	0	0	0	1	13124	755	27	1		1	RASGRF1	15	79296448	Silent	SNP	C	TCGA-DH-A7US-01A-11D-A33T-08	6836357	79296448	23234944	39	2962											
FAM169B	283777	broad.mit.edu	37	15	98982908	98982908	+	Silent	SNP	G	G	A			TCGA-DH-A7US-01A-11D-A33T-08	TCGA-DH-A7US-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a94ac1-015a-4f95-be04-1ae1bc582df1	785b4ba0-ae5f-464b-a257-06ff197f176f	g.chr15:98982908G>A	ENST00000558256.1	-	7	780	c.531C>T	c.(529-531)gcC>gcT	p.A177A	FAM169B_ENST00000332908.4_Silent_p.A177A	NM_182562.2	NP_872368.2	Q8N8A8	F169B_HUMAN	family with sequence similarity 169, member B	177										large_intestine(3)|lung(3)|urinary_tract(1)	7						CTGCCAGCCCGGCATCCTCCT	0.582													35	48					0	0	1	0	0	A	98982908	G	A	98982908	2	1	66	1	0	0	0	0	0	0	0	1	5518	1103	39	1		1	FAM169B	15	98982908	Silent	SNP	G	TCGA-DH-A7US-01A-11D-A33T-08	19686460	98982908	3548484	40	2963											
EIF4A1	1973	broad.mit.edu	37	17	7480734	7480734	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-A7US-01A-11D-A33T-08	TCGA-DH-A7US-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a94ac1-015a-4f95-be04-1ae1bc582df1	785b4ba0-ae5f-464b-a257-06ff197f176f	g.chr17:7480734C>T	ENST00000293831.8	+	7	713	c.697C>T	c.(697-699)Cgg>Tgg	p.R233W	SENP3-EIF4A1_ENST00000579777.1_RNA|EIF4A1_ENST00000582746.1_Missense_Mutation_p.R233W|EIF4A1_ENST00000577269.1_Missense_Mutation_p.R233W	NM_001416.3	NP_001407.1	P60842	IF4A1_HUMAN	eukaryotic translation initiation factor 4A1	233	Helicase ATP-binding.				nuclear-transcribed mRNA poly(A) tail shortening	cytosol|eukaryotic translation initiation factor 4F complex	ATP binding|ATP-dependent helicase activity|mRNA binding|protein binding|RNA cap binding|translation initiation factor activity			NS(1)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	22						GGACCCCATTCGGATTCTTGT	0.532													43	141					0	0	1	0	0	T	7480734	C	T	7480734	3	4	66	1	0	0	0	0	1	0	0	0	5052	875	31	1	723	1	EIF4A1	17	7480734	Missense_Mutation	SNP	C	TCGA-DH-A7US-01A-11D-A33T-08		7480734	73714476	41	2964											
C18orf25	147339	broad.mit.edu	37	18	43833711	43833711	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-A7US-01A-11D-A33T-08	TCGA-DH-A7US-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a94ac1-015a-4f95-be04-1ae1bc582df1	785b4ba0-ae5f-464b-a257-06ff197f176f	g.chr18:43833711C>T	ENST00000282059.6	+	4	1321	c.947C>T	c.(946-948)gCg>gTg	p.A316V	C18orf25_ENST00000321319.6_Missense_Mutation_p.A255V	NM_145055.3	NP_659492	Q96B23	CR025_HUMAN	chromosome 18 open reading frame 25	316								p.A316V(1)		central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)	11						TCTGGCAATGCGCCACTCAAT	0.408													5	222					0	0	1	0	0	T	43833711	C	T	43833711	3	4	66	1	0	0	0	0	1	0	0	0	1910	768	27	1	957	1	C18orf25	18	43833711	Missense_Mutation	SNP	C	TCGA-DH-A7US-01A-11D-A33T-08		43833711	34243537	42	2965											
MATK	4145	broad.mit.edu	37	19	3784192	3784192	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-A7US-01A-11D-A33T-08	TCGA-DH-A7US-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a94ac1-015a-4f95-be04-1ae1bc582df1	785b4ba0-ae5f-464b-a257-06ff197f176f	g.chr19:3784192C>T	ENST00000310132.6	-	5	690	c.292G>A	c.(292-294)Ggg>Agg	p.G98R	MATK_ENST00000585778.1_Missense_Mutation_p.G98R|MATK_ENST00000395045.2_Missense_Mutation_p.G99R|MATK_ENST00000395040.2_Missense_Mutation_p.G57R	NM_139355.2	NP_647612.1	P42679	MATK_HUMAN	megakaryocyte-associated tyrosine kinase	98	SH3.				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)		GCCAGCAGCCCCTCCTGTCCA	0.687													5	147					0	0	1	0	0	T	3784192	C	T	3784192	3	4	66	1	0	0	0	0	1	0	0	0	9382	623	22	2	1271	2	MATK	19	3784192	Missense_Mutation	SNP	C	TCGA-DH-A7US-01A-11D-A33T-08		3784192	55344791	43	2966											
SMARCA4	6597	broad.mit.edu	37	19	11141553	11141553	+	Missense_Mutation	SNP	A	A	G			TCGA-DH-A7US-01A-11D-A33T-08	TCGA-DH-A7US-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a94ac1-015a-4f95-be04-1ae1bc582df1	785b4ba0-ae5f-464b-a257-06ff197f176f	g.chr19:11141553A>G	ENST00000358026.2	+	25	3814	c.3530A>G	c.(3529-3531)gAc>gGc	p.D1177G	SMARCA4_ENST00000589677.1_Missense_Mutation_p.D1177G|SMARCA4_ENST00000429416.3_Missense_Mutation_p.D1177G|SMARCA4_ENST00000450717.3_Missense_Mutation_p.D1177G|SMARCA4_ENST00000590574.1_Missense_Mutation_p.D1177G|SMARCA4_ENST00000541122.2_Missense_Mutation_p.D1177G|SMARCA4_ENST00000344626.4_Missense_Mutation_p.D1177G|SMARCA4_ENST00000444061.3_Missense_Mutation_p.D1177G|SMARCA4_ENST00000413806.3_Missense_Mutation_p.D1177G	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	1177	Helicase C-terminal.				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				TTTGACAGCGACTGGAATCCT	0.627			"F, N, Mis"		NSCLC								5	26					0	0	1	0	0	G	11141553	A	G	11141553	3	3	66	1	0	0	0	0	1	0	0	0	14824	275	10	3	3624	3	SMARCA4	19	11141553	Missense_Mutation	SNP	A	TCGA-DH-A7US-01A-11D-A33T-08	7357361	11141553	47987430	44	2967											
ZNF799	90576	broad.mit.edu	37	19	12502322	12502322	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-A7US-01A-11D-A33T-08	TCGA-DH-A7US-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a94ac1-015a-4f95-be04-1ae1bc582df1	785b4ba0-ae5f-464b-a257-06ff197f176f	g.chr19:12502322C>T	ENST00000419318.1	-	4	1543	c.794G>A	c.(793-795)cGa>cAa	p.R265Q	ZNF799_ENST00000430385.3_Missense_Mutation_p.R297Q|CTD-3105H18.14_ENST00000435033.1_Intron			Q96GE5	ZN799_HUMAN	zinc finger protein 799	297					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R297Q(1)|p.R84Q(1)		breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2)	19						TTCGTGTCTTCGAAGGGAAGT	0.423													15	334					0	0	1	0	0	T	12502322	C	T	12502322	3	4	66	1	0	0	0	0	1	0	0	0	18215	884	31	1	1045	1	ZNF799	19	12502322	Missense_Mutation	SNP	C	TCGA-DH-A7US-01A-11D-A33T-08	1360769	12502322	46626661	45	2968											
CIC	23152	broad.mit.edu	37	19	42791828	42791828	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DH-A7US-01A-11D-A33T-08	TCGA-DH-A7US-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a94ac1-015a-4f95-be04-1ae1bc582df1	785b4ba0-ae5f-464b-a257-06ff197f176f	g.chr19:42791828G>A	ENST00000572681.2	+	6	3509	c.3441G>A	c.(3439-3441)tgG>tgA	p.W1147*	CIC_ENST00000575354.2_Nonsense_Mutation_p.W238*|CIC_ENST00000160740.3_Nonsense_Mutation_p.W238*			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	238	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				GCGAGTGGTGGTATGCCCTGG	0.617			"Mis, F, S"		oligodendroglioma								9	86					0	0	1	0	0	A	42791828	G	A	42791828	4	1	66	1	0	0	0	0	0	1	0	0	3446	1270	44	2	732	2	CIC	19	42791828	Nonsense_Mutation	SNP	G	TCGA-DH-A7US-01A-11D-A33T-08	30289506	42791828	16337155	46	2969											
PNMAL2	57469	broad.mit.edu	37	19	46998531	46998531	+	Silent	SNP	G	G	A			TCGA-DH-A7US-01A-11D-A33T-08	TCGA-DH-A7US-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a94ac1-015a-4f95-be04-1ae1bc582df1	785b4ba0-ae5f-464b-a257-06ff197f176f	g.chr19:46998531G>A	ENST00000599531.1	-	1	1224	c.192C>T	c.(190-192)gcC>gcT	p.A64A	PNMAL2_ENST00000377655.2_Silent_p.A64A|PNMAL2_ENST00000594749.1_Intron|AC011484.1_ENST00000377652.3_3'UTR	NM_020709.1	NP_065760.1	Q9ULN7	PNML2_HUMAN	paraneoplastic Ma antigen family-like 2	64										central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(4)	8		Ovarian(192;0.00965)|all_neural(266;0.0459)		OV - Ovarian serous cystadenocarcinoma(262;0.000322)|all cancers(93;0.00233)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)		ccaccagggcggcctgggcct	0.627													99	77					0	0	1	0	0	A	46998531	G	A	46998531	2	1	66	1	0	0	0	0	0	0	0	1	12206	1103	39	1		1	PNMAL2	19	46998531	Silent	SNP	G	TCGA-DH-A7US-01A-11D-A33T-08	4206703	46998531	12130452	47	2970											
STRN4	29888	broad.mit.edu	37	19	47228631	47228631	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-A7US-01A-11D-A33T-08	TCGA-DH-A7US-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a94ac1-015a-4f95-be04-1ae1bc582df1	785b4ba0-ae5f-464b-a257-06ff197f176f	g.chr19:47228631G>A	ENST00000391910.3	-	11	1901	c.1451C>T	c.(1450-1452)gCg>gTg	p.A484V	STRN4_ENST00000539396.1_Missense_Mutation_p.A358V|STRN4_ENST00000594357.2_5'UTR|STRN4_ENST00000263280.6_Missense_Mutation_p.A477V			Q9NRL3	STRN4_HUMAN	striatin, calmodulin binding protein 4	477						cytoplasm|membrane	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000563)|all cancers(93;0.00138)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.035)		ATCTAGCGCCGCATTCCTGTG	0.597													5	199					0	0	1	0	0	A	47228631	G	A	47228631	3	1	66	1	0	0	0	0	1	0	0	0	15387	1087	38	1	859	1	STRN4	19	47228631	Missense_Mutation	SNP	G	TCGA-DH-A7US-01A-11D-A33T-08	230100	47228631	11900352	48	2971											
SEC23B	10483	broad.mit.edu	37	20	18529342	18529342	+	Silent	SNP	G	G	A			TCGA-DH-A7US-01A-11D-A33T-08	TCGA-DH-A7US-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a94ac1-015a-4f95-be04-1ae1bc582df1	785b4ba0-ae5f-464b-a257-06ff197f176f	g.chr20:18529342G>A	ENST00000336714.3	+	16	2265	c.1833G>A	c.(1831-1833)cgG>cgA	p.R611R	SEC23B_ENST00000377475.3_Silent_p.R611R|SEC23B_ENST00000377465.1_Silent_p.R611R|SEC23B_ENST00000262544.2_Silent_p.R611R	NM_006363.4|NM_032985.4|NM_032986.3	NP_006354.2|NP_116780.1|NP_116781.1	Q15437	SC23B_HUMAN	Sec23 homolog B (S. cerevisiae)	611					ER to Golgi vesicle-mediated transport|intracellular protein transport	COPII vesicle coat|endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	32						ATTTTGCCCGGCAGGACCTGA	0.463													5	148					0	0	1	0	0	A	18529342	G	A	18529342	2	1	66	1	0	0	0	0	0	0	0	1	14046	1190	42	2		2	SEC23B	20	18529342	Silent	SNP	G	TCGA-DH-A7US-01A-11D-A33T-08		18529342	44496178	49	2972											
ACSS2	55902	broad.mit.edu	37	20	33501271	33501271	+	Missense_Mutation	SNP	C	C	T	rs112012777	byFrequency	TCGA-DH-A7US-01A-11D-A33T-08	TCGA-DH-A7US-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a94ac1-015a-4f95-be04-1ae1bc582df1	785b4ba0-ae5f-464b-a257-06ff197f176f	g.chr20:33501271C>T	ENST00000360596.2	+	4	753	c.542C>T	c.(541-543)gCc>gTc	p.A181V	ACSS2_ENST00000336325.4_Missense_Mutation_p.A131V|ACSS2_ENST00000253382.5_Missense_Mutation_p.A181V|ACSS2_ENST00000476922.1_Intron	NM_018677.3	NP_061147.1	Q9NR19	ACSA_HUMAN	acyl-CoA synthetase short-chain family member 2	181					ethanol oxidation|lipid biosynthetic process|xenobiotic metabolic process	cytosol|nucleus	acetate-CoA ligase activity|ATP binding|protein binding			cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(9)	21					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	CTGGCATGTGCCCGCATTGGG	0.572													4	187					0	0	1	0	0	T	33501271	C	T	33501271	3	4	66	1	0	0	0	0	1	0	0	0	189	739	26	2	556	2	ACSS2	20	33501271	Missense_Mutation	SNP	C	TCGA-DH-A7US-01A-11D-A33T-08	14971929	33501271	29524249	50	2973											
DLGAP4	22839	broad.mit.edu	37	20	35060261	35060261	+	Silent	SNP	C	C	A			TCGA-DH-A7US-01A-11D-A33T-08	TCGA-DH-A7US-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a94ac1-015a-4f95-be04-1ae1bc582df1	785b4ba0-ae5f-464b-a257-06ff197f176f	g.chr20:35060261C>A	ENST00000373913.3	+	3	621	c.141C>A	c.(139-141)ccC>ccA	p.P47P	DLGAP4_ENST00000401952.2_Silent_p.P47P|DLGAP4_ENST00000373907.2_Silent_p.P47P|DLGAP4_ENST00000339266.5_Silent_p.P47P			Q9Y2H0	DLGP4_HUMAN	discs, large (Drosophila) homolog-associated protein 4	47					cell-cell signaling	membrane	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				CCCGCTTCCCCGGGCAGAACA	0.672													48	68					2.84425e-11	3.07486e-11	1	1	0	A	35060261	C	A	35060261	2	1	66	1	0	0	0	0	0	0	0	1	4590	639	23	5		5	DLGAP4	20	35060261	Silent	SNP	C	TCGA-DH-A7US-01A-11D-A33T-08	1558990	35060261	27965259	51	2974											
ZSWIM3	140831	broad.mit.edu	37	20	44505808	44505808	+	Missense_Mutation	SNP	G	G	T			TCGA-DH-A7US-01A-11D-A33T-08	TCGA-DH-A7US-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a94ac1-015a-4f95-be04-1ae1bc582df1	785b4ba0-ae5f-464b-a257-06ff197f176f	g.chr20:44505808G>T	ENST00000255152.2	+	2	820	c.611G>T	c.(610-612)aGc>aTc	p.S204I	ZSWIM3_ENST00000454862.2_Missense_Mutation_p.S198I	NM_080752.3	NP_542790.2	Q96MP5	ZSWM3_HUMAN	zinc finger, SWIM-type containing 3	204							zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	35		Myeloproliferative disorder(115;0.0122)				GACCGGCTCAGCTTCCAGAGC	0.527													15	172					2.32078e-09	2.4755e-09	1	1	0	T	44505808	G	T	44505808	3	4	66	1	0	0	0	0	1	0	0	0	18282	971	34	4	617	4	ZSWIM3	20	44505808	Missense_Mutation	SNP	G	TCGA-DH-A7US-01A-11D-A33T-08	9445547	44505808	18519712	52	2975											
ZNF831	128611	broad.mit.edu	37	20	57782005	57782005	+	Silent	SNP	T	T	C			TCGA-DH-A7US-01A-11D-A33T-08	TCGA-DH-A7US-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a94ac1-015a-4f95-be04-1ae1bc582df1	785b4ba0-ae5f-464b-a257-06ff197f176f	g.chr20:57782005T>C	ENST00000371030.2	+	3	3921	c.3921T>C	c.(3919-3921)agT>agC	p.S1307S		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1307						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					TGAGAGCCAGTAGACTTCGCA	0.552													14	417					0	0	1	0	0	C	57782005	T	C	57782005	2	2	66	1	0	0	0	0	0	0	0	1	18232	1635	57	3		3	ZNF831	20	57782005	Silent	SNP	T	TCGA-DH-A7US-01A-11D-A33T-08	13276197	57782005	5243515	53	2976											
CDH26	60437	broad.mit.edu	37	20	58571755	58571755	+	Missense_Mutation	SNP	A	A	G			TCGA-DH-A7US-01A-11D-A33T-08	TCGA-DH-A7US-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a94ac1-015a-4f95-be04-1ae1bc582df1	785b4ba0-ae5f-464b-a257-06ff197f176f	g.chr20:58571755A>G	ENST00000348616.4	+	13	2258	c.1958A>G	c.(1957-1959)aAt>aGt	p.N653S	CDH26_ENST00000350849.6_Intron|CDH26_ENST00000497614.1_3'UTR|CDH26_ENST00000244047.5_Missense_Mutation_p.N653S|CDH26_ENST00000244049.3_Intron	NM_177980.2	NP_817089.1	Q8IXH8	CAD26_HUMAN	cadherin 26	653					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44	all_lung(29;0.00963)		BRCA - Breast invasive adenocarcinoma(7;5.58e-09)			TCTGTATCCAATGATGAAGGC	0.438													16	409					0	0	1	0	0	G	58571755	A	G	58571755	3	3	66	1	0	0	0	0	1	0	0	0	3132	101	4	3	2030	3	CDH26	20	58571755	Missense_Mutation	SNP	A	TCGA-DH-A7US-01A-11D-A33T-08	789750	58571755	4453765	54	2977											
MTMR3	8897	broad.mit.edu	37	22	30414015	30414015	+	Missense_Mutation	SNP	C	C	G			TCGA-DH-A7US-01A-11D-A33T-08	TCGA-DH-A7US-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a94ac1-015a-4f95-be04-1ae1bc582df1	785b4ba0-ae5f-464b-a257-06ff197f176f	g.chr22:30414015C>G	ENST00000333027.3	+	16	2102	c.1774C>G	c.(1774-1776)Cca>Gca	p.P592A	MTMR3_ENST00000351488.3_Missense_Mutation_p.P592A|MTMR3_ENST00000323630.5_Missense_Mutation_p.P456A|CTA-85E5.10_ENST00000429350.1_RNA|MTMR3_ENST00000406629.1_Missense_Mutation_p.P592A|MTMR3_ENST00000401950.2_Missense_Mutation_p.P592A	NM_153050.2|NM_153051.2	NP_694690.1|NP_694691.1	Q13615	MTMR3_HUMAN	myotubularin related protein 3	592					phosphatidylinositol dephosphorylation	cytoplasm|membrane|membrane fraction|nucleus	metal ion binding|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity			breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)			CAGCTGTGCACCATACCCAGC	0.632													12	173					0	0	1	0	0	G	30414015	C	G	30414015	3	3	66	1	0	0	0	0	1	0	0	0	9993	507	18	5	1828	5	MTMR3	22	30414015	Missense_Mutation	SNP	C	TCGA-DH-A7US-01A-11D-A33T-08		30414015	20890551	55	2978											
ASMT	438	broad.mit.edu	37	X	1743284	1743284	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-A7US-01A-11D-A33T-08	TCGA-DH-A7US-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a94ac1-015a-4f95-be04-1ae1bc582df1	785b4ba0-ae5f-464b-a257-06ff197f176f	g.chrX:1743284G>A	ENST00000381241.3	+	3	566	c.367G>A	c.(367-369)Gcc>Acc	p.A123T	ASMT_ENST00000381229.4_Missense_Mutation_p.A123T|ASMT_ENST00000381233.3_Missense_Mutation_p.A123T	NM_001171038.1|NM_004043.2	NP_001164509.1|NP_004034.2	P46597	HIOM_HUMAN	acetylserotonin O-methyltransferase	123					melatonin biosynthetic process|translation	cytosol	acetylserotonin O-methyltransferase activity|S-methyltransferase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	16		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CCTGGCAGACGCCGTGAGGTG	0.677													7	165					0	0	1	0	0	A	1743284	G	A	1743284	3	1	66	1	0	0	0	0	1	0	0	0	1044	1087	38	1	377	1	ASMT	23	1743284	Missense_Mutation	SNP	G	TCGA-DH-A7US-01A-11D-A33T-08		1743284	153527276	56	2979											
KAL1	3730	broad.mit.edu	37	X	8502385	8502385	+	Silent	SNP	C	C	A			TCGA-DH-A7US-01A-11D-A33T-08	TCGA-DH-A7US-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a94ac1-015a-4f95-be04-1ae1bc582df1	785b4ba0-ae5f-464b-a257-06ff197f176f	g.chrX:8502385C>A	ENST00000262648.3	-	13	2108	c.1959G>T	c.(1957-1959)ccG>ccT	p.P653P		NM_000216.2	NP_000207.2	P23352	KALM_HUMAN	Kallmann syndrome 1 sequence	653					axon guidance|cell adhesion|cellular component movement	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|serine-type endopeptidase inhibitor activity			breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(1)	32						GTGGGAGCTCCGGCGTCCGGA	0.562													3	57					1	1	1	1	0	A	8502385	C	A	8502385	2	1	66	1	0	0	0	0	0	0	0	1	8018	639	23	5		5	KAL1	23	8502385	Silent	SNP	C	TCGA-DH-A7US-01A-11D-A33T-08	6759101	8502385	146768175	57	2980											
LONRF3	79836	broad.mit.edu	37	X	118108965	118108965	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DH-A7US-01A-11D-A33T-08	TCGA-DH-A7US-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a94ac1-015a-4f95-be04-1ae1bc582df1	785b4ba0-ae5f-464b-a257-06ff197f176f	g.chrX:118108965delA	ENST00000304778.7	+	1	385	c.222delA	c.(220-222)gcafs	p.A74fs	LONRF3_ENST00000371628.3_Frame_Shift_Del_p.A74fs	NM_024778.4	NP_079054.3	Q496Y0	LONF3_HUMAN	LON peptidase N-terminal domain and ring finger 3	74					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						TCACGCAGGCAGACGCCTTGG	0.672													2	4	---	---	---	---						-	118108965	A	-	118108965	7	5	66	1	0	1	0	1	0	0	0	0	8941	175	7	0	224	0	LONRF3	23	118108965	Frame_Shift_Del	DEL	A	TCGA-DH-A7US-01A-11D-A33T-08	109606580	118108965	37161595	58	2981											
RYR2	6262	broad.mit.edu	37	1	237889610	237889611	+	Splice_Site	INS	-	-	A			TCGA-DH-A7UT-01A-12D-A34A-08	TCGA-DH-A7UT-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f9300e8-f1e0-46d6-bb2b-4233112d5787	58237222-ac10-45c2-b564-57672b993059	g.chr1:237889610_237889611insA	ENST00000366574.2	+	75	11042		c.e75+2		RYR2_ENST00000542537.1_Splice_Site|RYR2_ENST00000360064.6_Splice_Site|RYR2_ENST00000609119.1_Splice_Site	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)						cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TACTGTCTGGGAAGTACAGTGC	0.312													2	4	---	---	---	---						A	237889611	-	A	237889610	8	5	67	1	0	1	1	0	0	0	1	0	13821	1188	41	0	11025	0	RYR2	1	237889610	Splice_Site	INS	-	TCGA-DH-A7UT-01A-12D-A34A-08		237889610	11361011	1	2982											
KRTCAP3	200634	broad.mit.edu	37	2	27665758	27665758	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-A7UT-01A-12D-A34A-08	TCGA-DH-A7UT-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f9300e8-f1e0-46d6-bb2b-4233112d5787	58237222-ac10-45c2-b564-57672b993059	g.chr2:27665758G>A	ENST00000543753.1	+	3	310	c.263G>A	c.(262-264)cGc>cAc	p.R88H	KRTCAP3_ENST00000288873.3_Missense_Mutation_p.R88H|KRTCAP3_ENST00000407293.1_Missense_Mutation_p.R70H	NM_001168364.1	NP_001161836.1	Q53RY4	KCP3_HUMAN	keratinocyte associated protein 3	88						integral to membrane				large_intestine(1)|lung(2)	3	Acute lymphoblastic leukemia(172;0.155)					AACCTTCTTCGCCCTCCACTG	0.587													12	91					0	0	1	0	0	A	27665758	G	A	27665758	3	1	67	1	0	0	0	0	1	0	0	0	8618	1087	38	1	273	1	KRTCAP3	2	27665758	Missense_Mutation	SNP	G	TCGA-DH-A7UT-01A-12D-A34A-08		27665758	215533615	2	2983											
SNRNP200	23020	broad.mit.edu	37	2	96970602	96970602	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-A7UT-01A-12D-A34A-08	TCGA-DH-A7UT-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f9300e8-f1e0-46d6-bb2b-4233112d5787	58237222-ac10-45c2-b564-57672b993059	g.chr2:96970602G>A	ENST00000323853.5	-	2	127	c.50C>T	c.(49-51)tCg>tTg	p.S17L	SNRNP200_ENST00000349783.5_Missense_Mutation_p.S17L	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	17						catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						CACAAGATTCGAGTTCTGAAA	0.488													7	21					0	0	1	0	0	A	96970602	G	A	96970602	3	1	67	1	0	0	0	0	1	0	0	0	14906	1059	37	1	6536	1	SNRNP200	2	96970602	Missense_Mutation	SNP	G	TCGA-DH-A7UT-01A-12D-A34A-08	69304844	96970602	146228771	3	2984											
ITGAV	3685	broad.mit.edu	37	2	187503008	187503008	+	Silent	SNP	T	T	C			TCGA-DH-A7UT-01A-12D-A34A-08	TCGA-DH-A7UT-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f9300e8-f1e0-46d6-bb2b-4233112d5787	58237222-ac10-45c2-b564-57672b993059	g.chr2:187503008T>C	ENST00000261023.3	+	9	1081	c.807T>C	c.(805-807)ttT>ttC	p.F269F	ITGAV_ENST00000433736.2_Silent_p.F223F|ITGAV_ENST00000374907.3_Silent_p.F233F	NM_002210.3	NP_002201	P06756	ITAV_HUMAN	integrin, alpha V	269					angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|ERK1 and ERK2 cascade|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance	integrin complex	receptor activity|transforming growth factor beta binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47			OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)		TTTCAGACTTTGTTTCAGGAG	0.333													16	42					0	0	1	0	0	C	187503008	T	C	187503008	2	2	67	1	0	0	0	0	0	0	0	1	7932	1809	63	3		3	ITGAV	2	187503008	Silent	SNP	T	TCGA-DH-A7UT-01A-12D-A34A-08	90532406	187503008	55696365	4	2985											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-DH-A7UT-01A-12D-A34A-08	TCGA-DH-A7UT-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f9300e8-f1e0-46d6-bb2b-4233112d5787	58237222-ac10-45c2-b564-57672b993059	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								34	54					0	0	1	0	0	T	209113112	C	T	209113112	3	4	67	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-DH-A7UT-01A-12D-A34A-08	21610104	209113112	34086261	5	2986											
UGT1A1	54658	broad.mit.edu	37	2	234669406	234669406	+	Missense_Mutation	SNP	C	C	G			TCGA-DH-A7UT-01A-12D-A34A-08	TCGA-DH-A7UT-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f9300e8-f1e0-46d6-bb2b-4233112d5787	58237222-ac10-45c2-b564-57672b993059	g.chr2:234669406C>G	ENST00000360418.3	+	1	473	c.473C>G	c.(472-474)cCc>cGc	p.P158R	UGT1A10_ENST00000373445.1_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A1_ENST00000373450.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A1_ENST00000608383.1_Missense_Mutation_p.P158R|UGT1A4_ENST00000373409.3_Intron|UGT1A8_ENST00000305208.5_Missense_Mutation_p.P158R|UGT1A1_ENST00000609767.1_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A1_ENST00000608381.1_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A1_ENST00000609637.1_Intron|UGT1A3_ENST00000482026.1_Intron|UGT1A9_ENST00000354728.4_Intron			P22309	UD11_HUMAN		158					bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding			breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)	CCTTGCAGCCCCATCGTGGCC	0.557													7	123					0	0	1	0	0	G	234669406	C	G	234669406	3	3	67	1	0	0	0	0	1	0	0	0	17004	623	22	5	475	5	UGT1A1	2	234669406	Missense_Mutation	SNP	C	TCGA-DH-A7UT-01A-12D-A34A-08	25556294	234669406	8529967	6	2987											
NIPBL	25836	broad.mit.edu	37	5	37044506	37044506	+	Missense_Mutation	SNP	C	C	G			TCGA-DH-A7UT-01A-12D-A34A-08	TCGA-DH-A7UT-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f9300e8-f1e0-46d6-bb2b-4233112d5787	58237222-ac10-45c2-b564-57672b993059	g.chr5:37044506C>G	ENST00000282516.8	+	35	6665	c.6166C>G	c.(6166-6168)Cca>Gca	p.P2056A	NIPBL_ENST00000448238.2_Missense_Mutation_p.P2056A	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	2056					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			GCTAGTTGTACCACTGATGGA	0.353													24	39					0	0	1	0	0	G	37044506	C	G	37044506	3	3	67	1	0	0	0	0	1	0	0	0	10475	507	18	5	6300	5	NIPBL	5	37044506	Missense_Mutation	SNP	C	TCGA-DH-A7UT-01A-12D-A34A-08		37044506	143870754	7	2988											
NIPBL	25836	broad.mit.edu	37	5	37046250	37046250	+	Missense_Mutation	SNP	T	T	G			TCGA-DH-A7UT-01A-12D-A34A-08	TCGA-DH-A7UT-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f9300e8-f1e0-46d6-bb2b-4233112d5787	58237222-ac10-45c2-b564-57672b993059	g.chr5:37046250T>G	ENST00000282516.8	+	38	7037	c.6538T>G	c.(6538-6540)Ttt>Gtt	p.F2180V	NIPBL_ENST00000448238.2_Missense_Mutation_p.F2180V	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	2180					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			ATTGATGTATTTTACAAAACA	0.299													11	77					0	0	1	0	0	G	37046250	T	G	37046250	3	3	67	1	0	0	0	0	1	0	0	0	10475	1841	64	5	6684	5	NIPBL	5	37046250	Missense_Mutation	SNP	T	TCGA-DH-A7UT-01A-12D-A34A-08	1744	37046250	143869010	8	2989											
UNC5CL	222643	broad.mit.edu	37	6	41002719	41002719	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-A7UT-01A-12D-A34A-08	TCGA-DH-A7UT-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f9300e8-f1e0-46d6-bb2b-4233112d5787	58237222-ac10-45c2-b564-57672b993059	g.chr6:41002719C>T	ENST00000244565.3	-	2	183	c.95G>A	c.(94-96)cGa>cAa	p.R32Q	UNC5CL_ENST00000373164.1_Missense_Mutation_p.R32Q	NM_173561.2	NP_775832.2	Q8IV45	UN5CL_HUMAN	unc-5 homolog C (C. elegans)-like	32					signal transduction	cytoplasm|integral to membrane				endometrium(1)|kidney(3)|large_intestine(3)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	13	Ovarian(28;0.0418)|Colorectal(47;0.196)					GCAGTGCCATCGAAGGCATTG	0.587													10	45					0	0	1	0	0	T	41002719	C	T	41002719	3	4	67	1	0	0	0	0	1	0	0	0	17054	884	31	1	1493	1	UNC5CL	6	41002719	Missense_Mutation	SNP	C	TCGA-DH-A7UT-01A-12D-A34A-08		41002719	130112348	9	2990											
KIAA0408	9729	broad.mit.edu	37	6	127771348	127771348	+	Silent	SNP	C	C	T			TCGA-DH-A7UT-01A-12D-A34A-08	TCGA-DH-A7UT-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f9300e8-f1e0-46d6-bb2b-4233112d5787	58237222-ac10-45c2-b564-57672b993059	g.chr6:127771348C>T	ENST00000483725.3	-	3	621	c.285G>A	c.(283-285)acG>acA	p.T95T	SOGA3_ENST00000368268.2_3'UTR|SOGA3_ENST00000556132.1_3'UTR|SOGA3_ENST00000481848.2_3'UTR	NM_014702.4	NP_055517.3	Q6ZU52	K0408_HUMAN	KIAA0408	95							protein binding			endometrium(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|skin(1)	28				GBM - Glioblastoma multiforme(226;0.0217)|all cancers(137;0.13)		CTTTGTGATTCGTCCTTATAA	0.353													52	91					0	0	1	0	0	T	127771348	C	T	127771348	2	4	67	1	0	0	0	0	0	0	0	1	8216	871	31	1		1	KIAA0408	6	127771348	Silent	SNP	C	TCGA-DH-A7UT-01A-12D-A34A-08	86768629	127771348	43343719	10	2991											
NMBR	4829	broad.mit.edu	37	6	142399907	142399907	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-A7UT-01A-12D-A34A-08	TCGA-DH-A7UT-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f9300e8-f1e0-46d6-bb2b-4233112d5787	58237222-ac10-45c2-b564-57672b993059	g.chr6:142399907G>A	ENST00000258042.1	-	2	696	c.556C>T	c.(556-558)Cgc>Tgc	p.R186C		NM_002511.2	NP_002502.2	P28336	NMBR_HUMAN	neuromedin B receptor	186					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	cytoplasm|integral to plasma membrane	bombesin receptor activity			breast(2)|central_nervous_system(3)|endometrium(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23	Breast(32;0.155)			OV - Ovarian serous cystadenocarcinoma(155;9.93e-06)|GBM - Glioblastoma multiforme(68;0.0013)		CTACTGATGCGAGCCACTTCT	0.498													5	95					0	0	1	0	0	A	142399907	G	A	142399907	3	1	67	1	0	0	0	0	1	0	0	0	10534	1058	37	1	624	1	NMBR	6	142399907	Missense_Mutation	SNP	G	TCGA-DH-A7UT-01A-12D-A34A-08	14628559	142399907	28715160	11	2992											
ZAN	7455	broad.mit.edu	37	7	100365618	100365618	+	RNA	SNP	G	G	A			TCGA-DH-A7UT-01A-12D-A34A-08	TCGA-DH-A7UT-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f9300e8-f1e0-46d6-bb2b-4233112d5787	58237222-ac10-45c2-b564-57672b993059	g.chr7:100365618G>A	ENST00000542585.1	+	0	5173				ZAN_ENST00000348028.3_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000427578.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			ATGGCGGCCAGCTCTGTGGGC	0.602													5	32					0	0	1	0	0	A	100365618	G	A	100365618	1	1	67	0	1	0	0	0	0	0	0	0	17573	962	34	2		2	ZAN	7	100365618	RNA	SNP	G	TCGA-DH-A7UT-01A-12D-A34A-08		100365618	58773045	12	2993											
RNF133	168433	broad.mit.edu	37	7	122338322	122338322	+	Missense_Mutation	SNP	C	C	G			TCGA-DH-A7UT-01A-12D-A34A-08	TCGA-DH-A7UT-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f9300e8-f1e0-46d6-bb2b-4233112d5787	58237222-ac10-45c2-b564-57672b993059	g.chr7:122338322C>G	ENST00000340112.2	-	1	888	c.651G>C	c.(649-651)agG>agC	p.R217S	CADPS2_ENST00000412584.2_Intron|CADPS2_ENST00000334010.7_Intron|CADPS2_ENST00000313070.7_Intron|CADPS2_ENST00000449022.2_Intron	NM_139175.1	NP_631914.1	Q8WVZ7	RN133_HUMAN	ring finger protein 133	217						endoplasmic reticulum membrane|integral to membrane	ligase activity|zinc ion binding			NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	21						GGTTCTGAATCCTTGCTAAAC	0.378													53	136					0	0	1	0	0	G	122338322	C	G	122338322	3	3	67	1	0	0	0	0	1	0	0	0	13491	854	30	5	483	5	RNF133	7	122338322	Missense_Mutation	SNP	C	TCGA-DH-A7UT-01A-12D-A34A-08	21972704	122338322	36800341	13	2994											
ISCA1	81689	broad.mit.edu	37	9	88897352	88897352	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DH-A7UT-01A-12D-A34A-08	TCGA-DH-A7UT-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f9300e8-f1e0-46d6-bb2b-4233112d5787	58237222-ac10-45c2-b564-57672b993059	g.chr9:88897352delC	ENST00000375991.4	-	1	92	c.22delG	c.(22-24)gcafs	p.A8fs	ISCA1_ENST00000452279.2_Frame_Shift_Del_p.A55fs|ISCA1_ENST00000326094.4_Frame_Shift_Del_p.A8fs	NM_030940.3	NP_112202.2	Q9BUE6	ISCA1_HUMAN	iron-sulfur cluster assembly 1	8					iron-sulfur cluster assembly	mitochondrion	iron-sulfur cluster binding|metal ion binding|structural molecule activity			endometrium(2)|large_intestine(1)|lung(4)|pancreas(1)	8				OV - Ovarian serous cystadenocarcinoma(323;5.4e-34)|Lung(182;0.0375)		CGGACAGTTGCCCGGACTAAG	0.711													2	4	---	---	---	---						-	88897352	C	-	88897352	7	5	67	1	0	1	0	1	0	0	0	0	7893	739	26	0	383	0	ISCA1	9	88897352	Frame_Shift_Del	DEL	C	TCGA-DH-A7UT-01A-12D-A34A-08		88897352	52316079	14	2995											
ZDHHC24	254359	broad.mit.edu	37	11	66311297	66311297	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-A7UT-01A-12D-A34A-08	TCGA-DH-A7UT-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f9300e8-f1e0-46d6-bb2b-4233112d5787	58237222-ac10-45c2-b564-57672b993059	g.chr11:66311297G>A	ENST00000310442.3	-	2	671	c.437C>T	c.(436-438)gCc>gTc	p.A146V	ZDHHC24_ENST00000525925.1_5'UTR|ZDHHC24_ENST00000526986.1_Missense_Mutation_p.A146V	NM_207340.1	NP_997223.1	Q6UX98	ZDH24_HUMAN	zinc finger, DHHC-type containing 24	146	Leu-rich.					integral to membrane	acyltransferase activity|zinc ion binding			endometrium(1)|large_intestine(3)|ovary(1)|prostate(1)|skin(1)	7						GACGCCGGCGGCATGAAGCAG	0.701											OREG0021110	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	32					0	0	1	0	0	A	66311297	G	A	66311297	3	1	67	1	0	0	0	0	1	0	0	0	17673	1203	42	2	425	2	ZDHHC24	11	66311297	Missense_Mutation	SNP	G	TCGA-DH-A7UT-01A-12D-A34A-08		66311297	68695219	15	2996											
ZNF384	171017	broad.mit.edu	37	12	6776964	6776964	+	Silent	SNP	C	C	T	rs139957806		TCGA-DH-A7UT-01A-12D-A34A-08	TCGA-DH-A7UT-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f9300e8-f1e0-46d6-bb2b-4233112d5787	58237222-ac10-45c2-b564-57672b993059	g.chr12:6776964C>T	ENST00000396795.1	-	9	1964	c.1467G>A	c.(1465-1467)ccG>ccA	p.P489P	ZNF384_ENST00000396801.3_Silent_p.P550P|ZNF384_ENST00000319770.3_Silent_p.P473P|RP4-761J14.8_ENST00000589924.1_RNA|ZNF384_ENST00000361959.3_Silent_p.P550P|ZNF384_ENST00000355772.4_Silent_p.P434P|ZNF384_ENST00000396799.2_Silent_p.P489P			Q8TF68	ZN384_HUMAN	zinc finger protein 384	550	Ala-rich.|Gln-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding		EWSR1/ZNF384(4)	breast(3)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(1)	18						CCGTCTTATACGGGGTCAGGT	0.617			T	"EWSR1, TAF15 "	ALL								4	195					0	0	1	0	0	T	6776964	C	T	6776964	2	4	67	1	0	0	0	0	0	0	0	1	17932	523	19	1		1	ZNF384	12	6776964	Silent	SNP	C	TCGA-DH-A7UT-01A-12D-A34A-08		6776964	127074931	16	2997											
COQ6	51004	broad.mit.edu	37	14	74427895	74427895	+	Missense_Mutation	SNP	C	C	T	rs138207028		TCGA-DH-A7UT-01A-12D-A34A-08	TCGA-DH-A7UT-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f9300e8-f1e0-46d6-bb2b-4233112d5787	58237222-ac10-45c2-b564-57672b993059	g.chr14:74427895C>T	ENST00000334571.2	+	9	951	c.911C>T	c.(910-912)aCg>aTg	p.T304M	COQ6_ENST00000554920.1_Intron|COQ6_ENST00000238709.4_Missense_Mutation_p.T229M|COQ6_ENST00000394026.4_Missense_Mutation_p.T279M|ENTPD5_ENST00000557325.1_Intron	NM_182476.2	NP_872282.1	Q9Y2Z9	COQ6_HUMAN	coenzyme Q6 monooxygenase	304					ubiquinone biosynthetic process	mitochondrion	flavin adenine dinucleotide binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen			breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	16				BRCA - Breast invasive adenocarcinoma(234;0.00337)		GCTGACCACACGGACTTCATC	0.512													6	14					0	0	1	0	0	T	74427895	C	T	74427895	3	4	67	1	0	0	0	0	1	0	0	0	3772	536	19	1	945	1	COQ6	14	74427895	Missense_Mutation	SNP	C	TCGA-DH-A7UT-01A-12D-A34A-08		74427895	32921645	17	2998											
ACSM1	116285	broad.mit.edu	37	16	20696518	20696518	+	Missense_Mutation	SNP	T	T	A			TCGA-DH-A7UT-01A-12D-A34A-08	TCGA-DH-A7UT-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f9300e8-f1e0-46d6-bb2b-4233112d5787	58237222-ac10-45c2-b564-57672b993059	g.chr16:20696518T>A	ENST00000307493.4	-	2	467	c.400A>T	c.(400-402)Aca>Tca	p.T134S	ACSM1_ENST00000219151.4_5'UTR|ACSM1_ENST00000520010.1_Missense_Mutation_p.T134S	NM_052956.2	NP_443188.2	Q08AH1	ACSM1_HUMAN	acyl-CoA synthetase medium-chain family member 1	134					benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process	mitochondrial matrix	acyl-CoA ligase activity|ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						CACTGACCTGTTCGCATGCAG	0.582													3	43					0	0	1	0	0	A	20696518	T	A	20696518	3	1	67	1	0	0	0	0	1	0	0	0	182	1725	60	5	1381	5	ACSM1	16	20696518	Missense_Mutation	SNP	T	TCGA-DH-A7UT-01A-12D-A34A-08		20696518	69658235	18	2999											
TP53	7157	broad.mit.edu	37	17	7578534	7578534	+	Missense_Mutation	SNP	C	C	G			TCGA-DH-A7UT-01A-12D-A34A-08	TCGA-DH-A7UT-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f9300e8-f1e0-46d6-bb2b-4233112d5787	58237222-ac10-45c2-b564-57672b993059	g.chr17:7578534C>G	ENST00000420246.2	-	5	528	c.396G>C	c.(394-396)aaG>aaC	p.K132N	TP53_ENST00000359597.4_Missense_Mutation_p.K132N|TP53_ENST00000455263.2_Missense_Mutation_p.K132N|TP53_ENST00000413465.2_Missense_Mutation_p.K132N|TP53_ENST00000269305.4_Missense_Mutation_p.K132N|TP53_ENST00000445888.2_Missense_Mutation_p.K132N	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	132	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		K -> E (in LFS; germline mutation and in sporadic cancers; somatic mutation).|K -> L (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|K -> M (in sporadic cancers; somatic mutation).|K -> N (in sporadic cancers; somatic mutation).|K -> Q (in sporadic cancers; somatic mutation).|K -> R (in sporadic cancers; somatic mutation).|K -> T (in sporadic cancers; somatic mutation).|K -> W (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|KM -> NL (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.K132N(49)|p.0?(8)|p.Y126_K132delYSPALNK(6)|p.K39N(2)|p.N131fs*27(2)|p.V73fs*9(1)|p.S127fs*36(1)|p.A129_K132delALNK(1)|p.Y126fs*11(1)|p.K132K(1)|p.K132_A138delKMFCQLA(1)|p.S127_Q136del10(1)|p.L130_M133delLNKM(1)|p.M133fs*37(1)|p.M133fs*16(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GGCAAAACATCTTGTTGAGGG	0.562		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)			24	13					0	0	1	0	0	G	7578534	C	G	7578534	3	3	67	1	0	0	0	0	1	0	0	0	16442	912	32	4	902	4	TP53	17	7578534	Missense_Mutation	SNP	C	TCGA-DH-A7UT-01A-12D-A34A-08		7578534	73616676	19	3000											
WIPF2	147179	broad.mit.edu	37	17	38420949	38420949	+	Missense_Mutation	SNP	C	C	G			TCGA-DH-A7UT-01A-12D-A34A-08	TCGA-DH-A7UT-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f9300e8-f1e0-46d6-bb2b-4233112d5787	58237222-ac10-45c2-b564-57672b993059	g.chr17:38420949C>G	ENST00000323571.4	+	5	761	c.521C>G	c.(520-522)tCc>tGc	p.S174C	WIPF2_ENST00000394103.3_Intron|WIPF2_ENST00000536600.1_Intron|WIPF2_ENST00000585043.1_Missense_Mutation_p.S174C|WIPF2_ENST00000583130.1_Missense_Mutation_p.S174C|WIPF2_ENST00000494757.1_3'UTR	NM_133264.4	NP_573571.1	Q8TF74	WIPF2_HUMAN	WAS/WASL interacting protein family, member 2	174						cytoplasm|cytoskeleton	actin binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	30						AAGCACAGCTCCTCTGCCCCT	0.642										HNSCC(43;0.11)			30	47					0	0	1	0	0	G	38420949	C	G	38420949	3	3	67	1	0	0	0	0	1	0	0	0	17428	855	30	5	535	5	WIPF2	17	38420949	Missense_Mutation	SNP	C	TCGA-DH-A7UT-01A-12D-A34A-08	30842415	38420949	42774261	20	3001											
ZNF208	7757	broad.mit.edu	37	19	22154888	22154888	+	Missense_Mutation	SNP	C	C	G			TCGA-DH-A7UT-01A-12D-A34A-08	TCGA-DH-A7UT-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f9300e8-f1e0-46d6-bb2b-4233112d5787	58237222-ac10-45c2-b564-57672b993059	g.chr19:22154888C>G	ENST00000397126.4	-	4	3096	c.2948G>C	c.(2947-2949)aGt>aCt	p.S983T	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2			zinc finger protein 208											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TGAGAATGTACTAAAGCCTTT	0.358													5	54					0	0	1	0	0	G	22154888	C	G	22154888	3	3	67	1	0	0	0	0	1	0	0	0	17824	565	20	4	898	4	ZNF208	19	22154888	Missense_Mutation	SNP	C	TCGA-DH-A7UT-01A-12D-A34A-08		22154888	36974095	21	3002											
LAIR2	3904	broad.mit.edu	37	19	55019288	55019288	+	Silent	SNP	A	A	C			TCGA-DH-A7UT-01A-12D-A34A-08	TCGA-DH-A7UT-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f9300e8-f1e0-46d6-bb2b-4233112d5787	58237222-ac10-45c2-b564-57672b993059	g.chr19:55019288A>C	ENST00000301202.2	+	3	375	c.253A>C	c.(253-255)Aga>Cga	p.R85R	LAIR2_ENST00000351841.2_Silent_p.R85R	NM_002288.4	NP_002279.2	Q6ISS4	LAIR2_HUMAN	leukocyte-associated immunoglobulin-like receptor 2	85	Ig-like C2-type.					extracellular region	receptor activity			central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)	18	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0967)		GTCAGAGGCCAGATTCCACAT	0.498													21	60					0	0	1	0	0	C	55019288	A	C	55019288	2	2	67	1	0	0	0	0	0	0	0	1	8642	180	7	5		5	LAIR2	19	55019288	Silent	SNP	A	TCGA-DH-A7UT-01A-12D-A34A-08	32864400	55019288	4109695	22	3003											
ZNF551	90233	broad.mit.edu	37	19	58199603	58199603	+	Missense_Mutation	SNP	C	C	T	rs139249482	by1000genomes	TCGA-DH-A7UT-01A-12D-A34A-08	TCGA-DH-A7UT-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f9300e8-f1e0-46d6-bb2b-4233112d5787	58237222-ac10-45c2-b564-57672b993059	g.chr19:58199603C>T	ENST00000282296.5	+	3	2145	c.1960C>T	c.(1960-1962)Cgc>Tgc	p.R654C	ZNF551_ENST00000356715.4_Missense_Mutation_p.R638C|AC003006.7_ENST00000599221.1_Intron|AC003006.7_ENST00000594684.1_Intron|ZNF551_ENST00000596085.1_Intron			Q7Z340	ZN551_HUMAN	zinc finger protein 551	654					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)	15		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		ATCCTTTAGCCGCAAATCTAA	0.418													11	116					0	0	1	0	0	T	58199603	C	T	58199603	3	4	67	1	0	0	0	0	1	0	0	0	18040	652	23	1	1922	1	ZNF551	19	58199603	Missense_Mutation	SNP	C	TCGA-DH-A7UT-01A-12D-A34A-08	3180315	58199603	929380	23	3004											
PROKR2	128674	broad.mit.edu	37	20	5294667	5294667	+	Missense_Mutation	SNP	G	G	A	rs142008002		TCGA-DH-A7UT-01A-12D-A34A-08	TCGA-DH-A7UT-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f9300e8-f1e0-46d6-bb2b-4233112d5787	58237222-ac10-45c2-b564-57672b993059	g.chr20:5294667G>A	ENST00000546004.1	-	2	595	c.349C>T	c.(349-351)Cgg>Tgg	p.R117W	PROKR2_ENST00000217270.3_Missense_Mutation_p.R117W			Q8NFJ6	PKR2_HUMAN	prokineticin receptor 2	117						integral to membrane|plasma membrane	neuropeptide Y receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						GAGAGCTGCCGTACCACGTAG	0.597										HNSCC(71;0.22)			12	36					0	0	1	0	0	A	5294667	G	A	5294667	3	1	67	1	0	0	0	0	1	0	0	0	12605	1144	40	1	812	1	PROKR2	20	5294667	Missense_Mutation	SNP	G	TCGA-DH-A7UT-01A-12D-A34A-08		5294667	57730853	24	3005											
SLC32A1	140679	broad.mit.edu	37	20	37356207	37356207	+	Missense_Mutation	SNP	C	C	G			TCGA-DH-A7UT-01A-12D-A34A-08	TCGA-DH-A7UT-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f9300e8-f1e0-46d6-bb2b-4233112d5787	58237222-ac10-45c2-b564-57672b993059	g.chr20:37356207C>G	ENST00000217420.1	+	2	766	c.503C>G	c.(502-504)gCg>gGg	p.A168G		NM_080552.2	NP_542119.1	Q9H598	VIAAT_HUMAN	solute carrier family 32 (GABA vesicular transporter), member 1	168					neurotransmitter secretion	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane	vesicular hydrogen:amino acid antiporter activity			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|urinary_tract(1)	38		Myeloproliferative disorder(115;0.00878)			Glycine(DB00145)	ATCCTCATCGCGTGCCTGTAC	0.642													11	54					0	0	1	0	0	G	37356207	C	G	37356207	3	3	67	1	0	0	0	0	1	0	0	0	14620	768	27	5	509	5	SLC32A1	20	37356207	Missense_Mutation	SNP	C	TCGA-DH-A7UT-01A-12D-A34A-08	32061540	37356207	25669313	25	3006											
NCF4	4689	broad.mit.edu	37	22	37268425	37268425	+	Missense_Mutation	SNP	T	T	A			TCGA-DH-A7UT-01A-12D-A34A-08	TCGA-DH-A7UT-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f9300e8-f1e0-46d6-bb2b-4233112d5787	58237222-ac10-45c2-b564-57672b993059	g.chr22:37268425T>A	ENST00000397147.4	+	7	769	c.585T>A	c.(583-585)gaT>gaA	p.D195E	NCF4_ENST00000248899.6_Missense_Mutation_p.D195E	NM_013416.3	NP_038202.2	Q15080	NCF4_HUMAN	neutrophil cytosolic factor 4, 40kDa	195	SH3.				cell communication|immune response|oxidation-reduction process	cytosol|NADPH oxidase complex	phosphatidylinositol binding|protein dimerization activity			cervix(1)|endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16						AAGCTGGAGATGTGATCTTCC	0.478													27	67					0	0	1	0	0	A	37268425	T	A	37268425	3	1	67	1	0	0	0	0	1	0	0	0	10265	1461	51	4	611	4	NCF4	22	37268425	Missense_Mutation	SNP	T	TCGA-DH-A7UT-01A-12D-A34A-08		37268425	14036141	26	3007											
GBP4	115361	broad.mit.edu	37	1	89659075	89659075	+	Silent	SNP	C	C	T			TCGA-DH-A7UU-01A-12D-A34A-08	TCGA-DH-A7UU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34f4d3f4-cda0-48b2-9604-6211eb0c9b98	0fd6f503-a571-4c65-813c-7e2908dd7b21	g.chr1:89659075C>T	ENST00000355754.6	-	4	481	c.384G>A	c.(382-384)tcG>tcA	p.S128S		NM_052941.4	NP_443173.2	Q96PP9	GBP4_HUMAN	guanylate binding protein 4	128						cytoplasm	GTP binding|GTPase activity			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(19)|skin(1)|stomach(2)|urinary_tract(1)	33				all cancers(265;0.00723)|Epithelial(280;0.0291)		CAAAGATCCACGAGTCATTCT	0.433													13	67					0	0	1	0	0	T	89659075	C	T	89659075	2	4	68	1	0	0	0	0	0	0	0	1	6316	523	19	1		1	GBP4	1	89659075	Silent	SNP	C	TCGA-DH-A7UU-01A-12D-A34A-08		89659075	159591546	1	3008											
KPRP	448834	broad.mit.edu	37	1	152732432	152732432	+	Missense_Mutation	SNP	A	A	G			TCGA-DH-A7UU-01A-12D-A34A-08	TCGA-DH-A7UU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34f4d3f4-cda0-48b2-9604-6211eb0c9b98	0fd6f503-a571-4c65-813c-7e2908dd7b21	g.chr1:152732432A>G	ENST00000368773.1	+	2	426	c.368A>G	c.(367-369)gAa>gGa	p.E123G	KPRP_ENST00000606109.1_Missense_Mutation_p.E123G	NM_001025231.1	NP_001020402.1	Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	123	Gln-rich.					cytoplasm				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTGCAGTGCGAAGCGTCACAA	0.493													11	226					0	0	1	0	0	G	152732432	A	G	152732432	3	3	68	1	0	0	0	0	1	0	0	0	8479	246	9	3	370	3	KPRP	1	152732432	Missense_Mutation	SNP	A	TCGA-DH-A7UU-01A-12D-A34A-08	63073357	152732432	96518189	2	3009											
HMCN1	83872	broad.mit.edu	37	1	186057368	186057368	+	Silent	SNP	A	A	C			TCGA-DH-A7UU-01A-12D-A34A-08	TCGA-DH-A7UU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34f4d3f4-cda0-48b2-9604-6211eb0c9b98	0fd6f503-a571-4c65-813c-7e2908dd7b21	g.chr1:186057368A>C	ENST00000271588.4	+	62	9766	c.9537A>C	c.(9535-9537)ccA>ccC	p.P3179P	HMCN1_ENST00000367492.2_Silent_p.P3179P	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	3179	Ig-like C2-type 30.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CTGGGATCCCACCTCCCACGA	0.438													26	30					0	0	1	0	0	C	186057368	A	C	186057368	2	2	68	1	0	0	0	0	0	0	0	1	7261	146	6	5		5	HMCN1	1	186057368	Silent	SNP	A	TCGA-DH-A7UU-01A-12D-A34A-08	33324936	186057368	63193253	3	3010											
CAD	790	broad.mit.edu	37	2	27446568	27446568	+	Missense_Mutation	SNP	A	A	G			TCGA-DH-A7UU-01A-12D-A34A-08	TCGA-DH-A7UU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34f4d3f4-cda0-48b2-9604-6211eb0c9b98	0fd6f503-a571-4c65-813c-7e2908dd7b21	g.chr2:27446568A>G	ENST00000264705.4	+	7	1109	c.947A>G	c.(946-948)aAt>aGt	p.N316S	CAD_ENST00000403525.1_Missense_Mutation_p.N316S	NM_004341.3	NP_004332.2	P27708	PYR1_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	316	GATase (Glutamine amidotransferase).|Glutamine amidotransferase type-1.				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	ACCAACGCCAATGATGGTTCC	0.537													126	204					0	0	1	0	0	G	27446568	A	G	27446568	3	3	68	1	0	0	0	0	1	0	0	0	2583	101	4	3	973	3	CAD	2	27446568	Missense_Mutation	SNP	A	TCGA-DH-A7UU-01A-12D-A34A-08		27446568	215752805	4	3011											
GLI2	2736	broad.mit.edu	37	2	121747054	121747054	+	Silent	SNP	G	G	T	rs140392004		TCGA-DH-A7UU-01A-12D-A34A-08	TCGA-DH-A7UU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34f4d3f4-cda0-48b2-9604-6211eb0c9b98	0fd6f503-a571-4c65-813c-7e2908dd7b21	g.chr2:121747054G>T	ENST00000452319.1	+	14	3624	c.3564G>T	c.(3562-3564)ccG>ccT	p.P1188P	GLI2_ENST00000361492.4_Silent_p.P1188P|GLI2_ENST00000314490.11_Intron			P10070	GLI2_HUMAN	GLI family zinc finger 2	1188					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				GCTACAGTCCGCAAGGCCTAC	0.677													3	36					0.115264	0.118258	1	1	0	T	121747054	G	T	121747054	2	4	68	1	0	0	0	0	0	0	0	1	6480	1074	38	5		5	GLI2	2	121747054	Silent	SNP	G	TCGA-DH-A7UU-01A-12D-A34A-08	94300486	121747054	121452319	5	3012											
B3GALT1	8708	broad.mit.edu	37	2	168725946	168725946	+	Missense_Mutation	SNP	G	G	C			TCGA-DH-A7UU-01A-12D-A34A-08	TCGA-DH-A7UU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34f4d3f4-cda0-48b2-9604-6211eb0c9b98	0fd6f503-a571-4c65-813c-7e2908dd7b21	g.chr2:168725946G>C	ENST00000392690.3	+	1	489	c.397G>C	c.(397-399)Gag>Cag	p.E133Q	AC016723.4_ENST00000436982.2_RNA|B3GALT1_ENST00000305861.1_Missense_Mutation_p.E133Q|AC016723.4_ENST00000430546.1_RNA			Q9Y5Z6	B3GT1_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 1						lipid glycosylation|protein glycosylation	Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			cervix(1)|endometrium(1)|large_intestine(1)|lung(9)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	18						GGTGGAGCAAGAGAGCCAAAT	0.473													40	39					0	0	1	0	0	C	168725946	G	C	168725946	3	2	68	1	0	0	0	0	1	0	0	0	1245	943	33	4	399	4	B3GALT1	2	168725946	Missense_Mutation	SNP	G	TCGA-DH-A7UU-01A-12D-A34A-08	46978892	168725946	74473427	6	3013											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-DH-A7UU-01A-12D-A34A-08	TCGA-DH-A7UU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34f4d3f4-cda0-48b2-9604-6211eb0c9b98	0fd6f503-a571-4c65-813c-7e2908dd7b21	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	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								44	50					0	0	1	0	0	T	209113112	C	T	209113112	3	4	68	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-DH-A7UU-01A-12D-A34A-08	40387166	209113112	34086261	7	3014											
IMPG2	50939	broad.mit.edu	37	3	100961732	100961732	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-A7UU-01A-12D-A34A-08	TCGA-DH-A7UU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34f4d3f4-cda0-48b2-9604-6211eb0c9b98	0fd6f503-a571-4c65-813c-7e2908dd7b21	g.chr3:100961732G>A	ENST00000193391.7	-	14	3009	c.2822C>T	c.(2821-2823)tCa>tTa	p.S941L		NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	941	SEA 2.				visual perception	integral to membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity			NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						CGTGAGATTTGACTGGAGATA	0.393													23	80					0	0	1	0	0	A	100961732	G	A	100961732	3	1	68	1	0	0	0	0	1	0	0	0	7773	1294	45	2	927	2	IMPG2	3	100961732	Missense_Mutation	SNP	G	TCGA-DH-A7UU-01A-12D-A34A-08		100961732	97060698	8	3015											
CPB1	1360	broad.mit.edu	37	3	148545614	148545614	+	Missense_Mutation	SNP	T	T	A			TCGA-DH-A7UU-01A-12D-A34A-08	TCGA-DH-A7UU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34f4d3f4-cda0-48b2-9604-6211eb0c9b98	0fd6f503-a571-4c65-813c-7e2908dd7b21	g.chr3:148545614T>A	ENST00000491148.1	+	2	338	c.4T>A	c.(4-6)Ttg>Atg	p.L2M	CPB1_ENST00000282957.4_Missense_Mutation_p.L2M			P15086	CBPB1_HUMAN	carboxypeptidase B1 (tissue)	2					proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	38			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			AGACACAATGTTGGCACTCTT	0.458													11	41					0	0	1	0	0	A	148545614	T	A	148545614	3	1	68	1	0	0	0	0	1	0	0	0	3819	1722	60	5	6	5	CPB1	3	148545614	Missense_Mutation	SNP	T	TCGA-DH-A7UU-01A-12D-A34A-08	47583882	148545614	49476816	9	3016											
AFP	174	broad.mit.edu	37	4	74306410	74306410	+	Missense_Mutation	SNP	G	G	T			TCGA-DH-A7UU-01A-12D-A34A-08	TCGA-DH-A7UU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34f4d3f4-cda0-48b2-9604-6211eb0c9b98	0fd6f503-a571-4c65-813c-7e2908dd7b21	g.chr4:74306410G>T	ENST00000395792.2	+	4	462	c.362G>T	c.(361-363)aGa>aTa	p.R121I	AFP_ENST00000226359.2_Missense_Mutation_p.R121I	NM_001134.1	NP_001125.1	P02771	FETA_HUMAN	alpha-fetoprotein	121	Albumin 1.				transport		metal ion binding			breast(1)|endometrium(2)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|urinary_tract(1)	22	Breast(15;0.00102)		Epithelial(6;2.42e-05)|all cancers(17;0.000268)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GAAGAGGGAAGACATAACTGT	0.438									Alpha-Fetoprotein, Hereditary Persistence of				12	35					7.03913e-09	8.17781e-09	1	1	0	T	74306410	G	T	74306410	3	4	68	1	0	0	0	0	1	0	0	0	362	942	33	4	376	4	AFP	4	74306410	Missense_Mutation	SNP	G	TCGA-DH-A7UU-01A-12D-A34A-08		74306410	116847866	10	3017											
AFP	174	broad.mit.edu	37	4	74313361	74313361	+	Missense_Mutation	SNP	T	T	A			TCGA-DH-A7UU-01A-12D-A34A-08	TCGA-DH-A7UU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34f4d3f4-cda0-48b2-9604-6211eb0c9b98	0fd6f503-a571-4c65-813c-7e2908dd7b21	g.chr4:74313361T>A	ENST00000395792.2	+	8	1126	c.1026T>A	c.(1024-1026)ttT>ttA	p.F342L	AFP_ENST00000226359.2_Missense_Mutation_p.F342L	NM_001134.1	NP_001125.1	P02771	FETA_HUMAN	alpha-fetoprotein	342	Albumin 2.				transport		metal ion binding			breast(1)|endometrium(2)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|urinary_tract(1)	22	Breast(15;0.00102)		Epithelial(6;2.42e-05)|all cancers(17;0.000268)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TTAACCAATTTTCTTCAGGGG	0.343									Alpha-Fetoprotein, Hereditary Persistence of				15	39					0	0	1	0	0	A	74313361	T	A	74313361	3	1	68	1	0	0	0	0	1	0	0	0	362	1838	64	5	1056	5	AFP	4	74313361	Missense_Mutation	SNP	T	TCGA-DH-A7UU-01A-12D-A34A-08	6951	74313361	116840915	11	3018											
FRAS1	80144	broad.mit.edu	37	4	79443927	79443927	+	Silent	SNP	A	A	G			TCGA-DH-A7UU-01A-12D-A34A-08	TCGA-DH-A7UU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34f4d3f4-cda0-48b2-9604-6211eb0c9b98	0fd6f503-a571-4c65-813c-7e2908dd7b21	g.chr4:79443927A>G	ENST00000264895.6	+	69	11213	c.10773A>G	c.(10771-10773)ccA>ccG	p.P3591P		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	3586					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						TTGATTCTCCACATCAACTCT	0.443													7	21					0	0	1	0	0	G	79443927	A	G	79443927	2	3	68	1	0	0	0	0	0	0	0	1	6076	146	6	3		3	FRAS1	4	79443927	Silent	SNP	A	TCGA-DH-A7UU-01A-12D-A34A-08	5130566	79443927	111710349	12	3019											
ABCE1	6059	broad.mit.edu	37	4	146032140	146032140	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DH-A7UU-01A-12D-A34A-08	TCGA-DH-A7UU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34f4d3f4-cda0-48b2-9604-6211eb0c9b98	0fd6f503-a571-4c65-813c-7e2908dd7b21	g.chr4:146032140C>T	ENST00000296577.4	+	8	1149	c.634C>T	c.(634-636)Cga>Tga	p.R212*	OTUD4_ENST00000455611.2_5'UTR|ABCE1_ENST00000502803.1_Intron	NM_001040876.1|NM_002940.2	NP_001035809.1|NP_002931.2	P61221	ABCE1_HUMAN	ATP-binding cassette, sub-family E (OABP), member 1	212	ABC transporter 1.				interspecies interaction between organisms|response to virus|RNA catabolic process	mitochondrion	ATP binding|ATPase activity|electron carrier activity|iron-sulfur cluster binding|ribonuclease inhibitor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|lung(5)|prostate(2)|skin(3)	18	all_hematologic(180;0.151)					CCTAAAAGAACGAAATGTTGA	0.363													7	68					0	0	1	0	0	T	146032140	C	T	146032140	4	4	68	1	0	0	0	0	0	1	0	0	64	528	19	1	660	1	ABCE1	4	146032140	Nonsense_Mutation	SNP	C	TCGA-DH-A7UU-01A-12D-A34A-08	66588213	146032140	45122136	13	3020											
FAT1	2195	broad.mit.edu	37	4	187630588	187630588	+	Silent	SNP	G	G	T			TCGA-DH-A7UU-01A-12D-A34A-08	TCGA-DH-A7UU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34f4d3f4-cda0-48b2-9604-6211eb0c9b98	0fd6f503-a571-4c65-813c-7e2908dd7b21	g.chr4:187630588G>T	ENST00000441802.2	-	2	603	c.394C>A	c.(394-396)Cga>Aga	p.R132R		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	132	Cadherin 1.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	p.R132*(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						ACCTTTGTTCGCGCCTCCACA	0.413										HNSCC(5;0.00058)			43	81					7.05377e-20	8.44315e-20	1	1	0	T	187630588	G	T	187630588	2	4	68	1	0	0	0	0	0	0	0	1	5722	1095	38	5		5	FAT1	4	187630588	Silent	SNP	G	TCGA-DH-A7UU-01A-12D-A34A-08	41598448	187630588	3523688	14	3021											
RHOBTB3	22836	broad.mit.edu	37	5	95091155	95091155	+	Missense_Mutation	SNP	C	C	G	rs141124421		TCGA-DH-A7UU-01A-12D-A34A-08	TCGA-DH-A7UU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34f4d3f4-cda0-48b2-9604-6211eb0c9b98	0fd6f503-a571-4c65-813c-7e2908dd7b21	g.chr5:95091155C>G	ENST00000379982.3	+	6	1246	c.738C>G	c.(736-738)aaC>aaG	p.N246K	GLRX_ENST00000508780.1_Intron	NM_014899.3	NP_055714.3	O94955	RHBT3_HUMAN	Rho-related BTB domain containing 3	246					retrograde transport, endosome to Golgi	Golgi apparatus	ATP binding|ATPase activity|Rab GTPase binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|skin(1)	16		all_cancers(142;2.58e-06)|all_epithelial(76;4.19e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0164)|Colorectal(57;0.0846)|Breast(839;0.198)		all cancers(79;8.79e-16)		ACTTAAATAACTTGCTGTTCT	0.378													29	137					0	0	1	0	0	G	95091155	C	G	95091155	3	3	68	1	0	0	0	0	1	0	0	0	13385	564	20	4	760	4	RHOBTB3	5	95091155	Missense_Mutation	SNP	C	TCGA-DH-A7UU-01A-12D-A34A-08		95091155	85824105	15	3022											
TXNDC5	81567	broad.mit.edu	37	6	7888998	7888998	+	Silent	SNP	C	C	G	rs142347872		TCGA-DH-A7UU-01A-12D-A34A-08	TCGA-DH-A7UU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34f4d3f4-cda0-48b2-9604-6211eb0c9b98	0fd6f503-a571-4c65-813c-7e2908dd7b21	g.chr6:7888998C>G	ENST00000539054.1	-	7	686	c.687G>C	c.(685-687)gcG>gcC	p.A229A	TXNDC5_ENST00000379757.4_Silent_p.A301A|TXNDC5_ENST00000473453.1_Silent_p.A193A|BLOC1S5-TXNDC5_ENST00000439343.2_3'UTR			Q8NBS9	TXND5_HUMAN	thioredoxin domain containing 5 (endoplasmic reticulum)		Thioredoxin 2.				anti-apoptosis|cell redox homeostasis|cellular membrane organization|glycerol ether metabolic process|post-Golgi vesicle-mediated transport	endoplasmic reticulum lumen|lysosomal lumen	electron carrier activity|isomerase activity|protein disulfide oxidoreductase activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|skin(2)	22	Ovarian(93;0.0398)					CGGTCTCCGTCGCTCCAGTCT	0.647													8	139					0	0	1	0	0	G	7888998	C	G	7888998	2	3	68	1	0	0	0	0	0	0	0	1	16861	871	31	5		5	TXNDC5	6	7888998	Silent	SNP	C	TCGA-DH-A7UU-01A-12D-A34A-08		7888998	163226069	16	3023											
HIVEP1	3096	broad.mit.edu	37	6	12121547	12121547	+	Missense_Mutation	SNP	G	G	C			TCGA-DH-A7UU-01A-12D-A34A-08	TCGA-DH-A7UU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34f4d3f4-cda0-48b2-9604-6211eb0c9b98	0fd6f503-a571-4c65-813c-7e2908dd7b21	g.chr6:12121547G>C	ENST00000379388.2	+	4	1851	c.1519G>C	c.(1519-1521)Gac>Cac	p.D507H		NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	507					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				GAGACAGCATGACCTGGGCGC	0.493													5	36					0	0	1	0	0	C	12121547	G	C	12121547	3	2	68	1	0	0	0	0	1	0	0	0	7227	1290	45	5	1529	5	HIVEP1	6	12121547	Missense_Mutation	SNP	G	TCGA-DH-A7UU-01A-12D-A34A-08	4232549	12121547	158993520	17	3024											
PRL	5617	broad.mit.edu	37	6	22287738	22287738	+	Missense_Mutation	SNP	G	G	T			TCGA-DH-A7UU-01A-12D-A34A-08	TCGA-DH-A7UU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34f4d3f4-cda0-48b2-9604-6211eb0c9b98	0fd6f503-a571-4c65-813c-7e2908dd7b21	g.chr6:22287738G>T	ENST00000306482.1	-	5	1095	c.577C>A	c.(577-579)Ctt>Att	p.L193I	RP3-404K8.2_ENST00000561912.1_RNA	NM_000948.5|NM_001163558.2	NP_000939.1|NP_001157030.1	P01236	PRL_HUMAN	prolactin	193					cell proliferation|cell surface receptor linked signaling pathway|female pregnancy|lactation|positive regulation of JAK-STAT cascade|regulation of multicellular organism growth	cytosol|extracellular region	hormone activity|prolactin receptor binding			NS(1)|endometrium(2)|large_intestine(6)|lung(6)|prostate(1)	16	Ovarian(93;0.163)					TAAGCAGAAAGGCGAGACTCT	0.443													4	73					0.000602214	0.000651711	1	1	0	T	22287738	G	T	22287738	3	4	68	1	0	0	0	0	1	0	0	0	12580	1000	35	4	110	4	PRL	6	22287738	Missense_Mutation	SNP	G	TCGA-DH-A7UU-01A-12D-A34A-08	10166191	22287738	148827329	18	3025											
CLIC5	53405	broad.mit.edu	37	6	45917025	45917025	+	Missense_Mutation	SNP	C	C	A			TCGA-DH-A7UU-01A-12D-A34A-08	TCGA-DH-A7UU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34f4d3f4-cda0-48b2-9604-6211eb0c9b98	0fd6f503-a571-4c65-813c-7e2908dd7b21	g.chr6:45917025C>A	ENST00000185206.6	-	3	896	c.744G>T	c.(742-744)gaG>gaT	p.E248D	CLIC5_ENST00000544153.1_Missense_Mutation_p.E89D|CLIC5_ENST00000339561.6_Missense_Mutation_p.E89D	NM_001114086.1	NP_001107558.1	Q9NZA1	CLIC5_HUMAN	chloride intracellular channel 5	248					female pregnancy	actin cytoskeleton|cell cortex|chloride channel complex|Golgi apparatus|insoluble fraction|microtubule organizing center	protein binding|voltage-gated chloride channel activity			endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	13						CCAGGAACTCCTCGATCTTAT	0.532													39	60					6.2361e-21	7.57927e-21	1	1	0	A	45917025	C	A	45917025	3	1	68	1	0	0	0	0	1	0	0	0	3552	680	24	4	504	4	CLIC5	6	45917025	Missense_Mutation	SNP	C	TCGA-DH-A7UU-01A-12D-A34A-08	23629287	45917025	125198042	19	3026											
CCDC132	55610	broad.mit.edu	37	7	92926525	92926526	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-DH-A7UU-01A-12D-A34A-08	TCGA-DH-A7UU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34f4d3f4-cda0-48b2-9604-6211eb0c9b98	0fd6f503-a571-4c65-813c-7e2908dd7b21	g.chr7:92926525_92926526delAA	ENST00000544910.1	+	17	1461_1462	c.1241_1242delAA	c.(1240-1242)caafs	p.Q414fs	CCDC132_ENST00000305866.5_Frame_Shift_Del_p.Q444fs|CCDC132_ENST00000541136.1_Frame_Shift_Del_p.Q255fs|CCDC132_ENST00000535481.1_Frame_Shift_Del_p.Q164fs|CCDC132_ENST00000317751.6_Frame_Shift_Del_p.Q175fs	NM_001257998.1	NP_001244927.1	Q96JG6	CC132_HUMAN	coiled-coil domain containing 132	444										endometrium(1)|large_intestine(2)|lung(5)	8	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		STAD - Stomach adenocarcinoma(171;0.000302)			ATTAGAAAACAAAGTGTCAATT	0.292													12	19	---	---	---	---						-	92926526	AA	-	92926525	7	5	68	1	0	1	0	1	0	0	0	0	2785	130	5	0	1435	0	CCDC132	7	92926525	Frame_Shift_Del	DEL	AA	TCGA-DH-A7UU-01A-12D-A34A-08		92926525	66212138	20	3027											
TRIM56	81844	broad.mit.edu	37	7	100732732	100732732	+	Silent	SNP	A	A	G			TCGA-DH-A7UU-01A-12D-A34A-08	TCGA-DH-A7UU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34f4d3f4-cda0-48b2-9604-6211eb0c9b98	0fd6f503-a571-4c65-813c-7e2908dd7b21	g.chr7:100732732A>G	ENST00000306085.6	+	3	2436	c.2139A>G	c.(2137-2139)ggA>ggG	p.G713G		NM_030961.1	NP_112223.1	Q9BRZ2	TRI56_HUMAN	tripartite motif containing 56	713					defense response to virus|interferon-beta production|protein K63-linked ubiquitination|response to type I interferon	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	Lung NSC(181;0.136)|all_lung(186;0.182)					CCCTCCTTGGAGACTTCCTGA	0.582													11	35					0	0	1	0	0	G	100732732	A	G	100732732	2	3	68	1	0	0	0	0	0	0	0	1	16591	291	11	3		3	TRIM56	7	100732732	Silent	SNP	A	TCGA-DH-A7UU-01A-12D-A34A-08	7806207	100732732	58405931	21	3028											
AKR1B10	57016	broad.mit.edu	37	7	134221422	134221422	+	Missense_Mutation	SNP	T	T	A			TCGA-DH-A7UU-01A-12D-A34A-08	TCGA-DH-A7UU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34f4d3f4-cda0-48b2-9604-6211eb0c9b98	0fd6f503-a571-4c65-813c-7e2908dd7b21	g.chr7:134221422T>A	ENST00000359579.4	+	5	770	c.450T>A	c.(448-450)gaT>gaA	p.D150E	AKR1B10_ENST00000475559.1_Intron	NM_020299.4	NP_064695.3	O60218	AK1BA_HUMAN	aldo-keto reductase family 1, member B10 (aldose reductase)	150					cellular aldehyde metabolic process|digestion|steroid metabolic process	cytoplasm	aldo-keto reductase (NADP) activity|protein binding			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(9)|skin(5)	20						AGCTGGTGGATGAGGGGCTGG	0.522													36	66					0	0	1	0	0	A	134221422	T	A	134221422	3	1	68	1	0	0	0	0	1	0	0	0	464	1461	51	4	468	4	AKR1B10	7	134221422	Missense_Mutation	SNP	T	TCGA-DH-A7UU-01A-12D-A34A-08	33488690	134221422	24917241	22	3029											
NOS3	4846	broad.mit.edu	37	7	150690908	150690908	+	Missense_Mutation	SNP	G	G	C			TCGA-DH-A7UU-01A-12D-A34A-08	TCGA-DH-A7UU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34f4d3f4-cda0-48b2-9604-6211eb0c9b98	0fd6f503-a571-4c65-813c-7e2908dd7b21	g.chr7:150690908G>C	ENST00000297494.3	+	2	374	c.17G>C	c.(16-18)aGc>aCc	p.S6T	NOS3_ENST00000484524.1_Missense_Mutation_p.S6T|NOS3_ENST00000467517.1_Missense_Mutation_p.S6T|NOS3_ENST00000461406.1_Intron	NM_000603.4	NP_000594.2	P29474	NOS3_HUMAN	nitric oxide synthase 3 (endothelial cell)	6					anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	caveola|cytoskeleton|cytosol|Golgi membrane	actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)	AACTTGAAGAGCGTGGCCCAG	0.697													15	24					0	0	1	0	0	C	150690908	G	C	150690908	3	2	68	1	0	0	0	0	1	0	0	0	10591	971	34	4	19	4	NOS3	7	150690908	Missense_Mutation	SNP	G	TCGA-DH-A7UU-01A-12D-A34A-08	16469486	150690908	8447755	23	3030											
HMBOX1	79618	broad.mit.edu	37	8	28837639	28837639	+	Silent	SNP	G	G	A			TCGA-DH-A7UU-01A-12D-A34A-08	TCGA-DH-A7UU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34f4d3f4-cda0-48b2-9604-6211eb0c9b98	0fd6f503-a571-4c65-813c-7e2908dd7b21	g.chr8:28837639G>A	ENST00000397358.3	+	5	1256	c.552G>A	c.(550-552)cgG>cgA	p.R184R	HMBOX1_ENST00000403668.2_Silent_p.R184R|HMBOX1_ENST00000444075.1_Silent_p.R184R|HMBOX1_ENST00000558662.1_Silent_p.R184R|HMBOX1_ENST00000355231.5_Silent_p.R184R|HMBOX1_ENST00000519047.1_Silent_p.R184R|HMBOX1_ENST00000287701.10_Silent_p.R184R|HMBOX1_ENST00000524238.1_Silent_p.R184R|HMBOX1_ENST00000523613.1_Silent_p.R184R	NM_024567.3	NP_078843.2	Q6NT76	HMBX1_HUMAN	homeobox containing 1	184					negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	11		Ovarian(32;0.0192)		KIRC - Kidney renal clear cell carcinoma(542;0.135)|Kidney(114;0.161)		TTGCCAATCGGAGGATTTCCC	0.433													7	145					0	0	1	0	0	A	28837639	G	A	28837639	2	1	68	1	0	0	0	0	0	0	0	1	7259	1161	41	2		2	HMBOX1	8	28837639	Silent	SNP	G	TCGA-DH-A7UU-01A-12D-A34A-08		28837639	117526383	24	3031											
KCNU1	157855	broad.mit.edu	37	8	36671774	36671774	+	Missense_Mutation	SNP	T	T	C			TCGA-DH-A7UU-01A-12D-A34A-08	TCGA-DH-A7UU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34f4d3f4-cda0-48b2-9604-6211eb0c9b98	0fd6f503-a571-4c65-813c-7e2908dd7b21	g.chr8:36671774T>C	ENST00000399881.3	+	8	819	c.782T>C	c.(781-783)aTa>aCa	p.I261T		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	261						voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		TCACAGAATATATCATATTTT	0.423													6	11					0	0	1	0	0	C	36671774	T	C	36671774	3	2	68	1	0	0	0	0	1	0	0	0	8137	1406	49	3	812	3	KCNU1	8	36671774	Missense_Mutation	SNP	T	TCGA-DH-A7UU-01A-12D-A34A-08	7834135	36671774	109692248	25	3032											
AGPAT6	137964	broad.mit.edu	37	8	41456786	41456786	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-A7UU-01A-12D-A34A-08	TCGA-DH-A7UU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34f4d3f4-cda0-48b2-9604-6211eb0c9b98	0fd6f503-a571-4c65-813c-7e2908dd7b21	g.chr8:41456786G>A	ENST00000396987.3	+	2	1055	c.128G>A	c.(127-129)cGc>cAc	p.R43H		NM_178819.3	NP_848934.1	Q86UL3	GPAT4_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 6	43					acyl-CoA metabolic process|lactation|phosphatidylcholine biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|membrane fraction	glycerol-3-phosphate O-acyltransferase activity	p.R43H(2)		endometrium(3)|kidney(2)|large_intestine(3)|lung(6)	14	Ovarian(28;0.00769)|Colorectal(14;0.0202)|Lung SC(25;0.211)	all_lung(54;0.0131)|Lung NSC(58;0.0363)|Hepatocellular(245;0.0462)|Esophageal squamous(32;0.0844)	OV - Ovarian serous cystadenocarcinoma(14;0.00126)|Colorectal(10;0.0014)|Lung(22;0.00177)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0147)			TTTGGTATCCGCAAACTCTAC	0.433													4	114					0	0	1	0	0	A	41456786	G	A	41456786	3	1	68	1	0	0	0	0	1	0	0	0	388	1087	38	1	130	1	AGPAT6	8	41456786	Missense_Mutation	SNP	G	TCGA-DH-A7UU-01A-12D-A34A-08	4785012	41456786	104907236	26	3033											
TRPA1	8989	broad.mit.edu	37	8	72948521	72948521	+	Splice_Site	SNP	A	A	G	rs111533281		TCGA-DH-A7UU-01A-12D-A34A-08	TCGA-DH-A7UU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34f4d3f4-cda0-48b2-9604-6211eb0c9b98	0fd6f503-a571-4c65-813c-7e2908dd7b21	g.chr8:72948521A>G	ENST00000262209.4	-	21	2763		c.e21+1		RP11-383H13.1_ENST00000524152.1_Intron|TRPA1_ENST00000519720.1_Splice_Site|RP11-383H13.1_ENST00000457356.4_Intron|RP11-383H13.1_ENST00000537896.1_Intron	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1							integral to plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	AGCTTGTTTTACCTTTGAAGA	0.333													51	70					0	0	1	0	0	G	72948521	A	G	72948521	5	3	68	1	0	0	0	0	0	0	1	0	16638	405	14	3	830	3	TRPA1	8	72948521	Splice_Site	SNP	A	TCGA-DH-A7UU-01A-12D-A34A-08	31491735	72948521	73415501	27	3034											
ADCY8	114	broad.mit.edu	37	8	131812796	131812796	+	Missense_Mutation	SNP	T	T	C			TCGA-DH-A7UU-01A-12D-A34A-08	TCGA-DH-A7UU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34f4d3f4-cda0-48b2-9604-6211eb0c9b98	0fd6f503-a571-4c65-813c-7e2908dd7b21	g.chr8:131812796T>C	ENST00000286355.5	-	15	5028	c.2936A>G	c.(2935-2937)gAt>gGt	p.D979G	ADCY8_ENST00000377928.3_Missense_Mutation_p.D848G	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	979					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			CCCAACAGCATCATAGGATTG	0.498										HNSCC(32;0.087)			18	44					0	0	1	0	0	C	131812796	T	C	131812796	3	2	68	1	0	0	0	0	1	0	0	0	299	1435	50	3	835	3	ADCY8	8	131812796	Missense_Mutation	SNP	T	TCGA-DH-A7UU-01A-12D-A34A-08	58864275	131812796	14551226	28	3035											
TMEM2	23670	broad.mit.edu	37	9	74347285	74347285	+	Silent	SNP	G	G	T			TCGA-DH-A7UU-01A-12D-A34A-08	TCGA-DH-A7UU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34f4d3f4-cda0-48b2-9604-6211eb0c9b98	0fd6f503-a571-4c65-813c-7e2908dd7b21	g.chr9:74347285G>T	ENST00000377044.4	-	7	2084	c.1545C>A	c.(1543-1545)acC>acA	p.T515T	TMEM2_ENST00000377066.5_Silent_p.T452T	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2	515						integral to membrane				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		GTCCCCCAAAGGTATCATAAT	0.383													4	78					0.00024832	0.000280247	1	1	0	T	74347285	G	T	74347285	2	4	68	1	0	0	0	0	0	0	0	1	16181	987	35	4		4	TMEM2	9	74347285	Silent	SNP	G	TCGA-DH-A7UU-01A-12D-A34A-08		74347285	66866146	29	3036											
PCSK5	5125	broad.mit.edu	37	9	78943022	78943022	+	Silent	SNP	C	C	T			TCGA-DH-A7UU-01A-12D-A34A-08	TCGA-DH-A7UU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34f4d3f4-cda0-48b2-9604-6211eb0c9b98	0fd6f503-a571-4c65-813c-7e2908dd7b21	g.chr9:78943022C>T	ENST00000545128.1	+	32	4894	c.4356C>T	c.(4354-4356)aaC>aaT	p.N1452N		NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	674					anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						GCATGGCCAACGAGAAGTGCT	0.592													9	192					0	0	1	0	0	T	78943022	C	T	78943022	2	4	68	1	0	0	0	0	0	0	0	1	11650	551	19	1		1	PCSK5	9	78943022	Silent	SNP	C	TCGA-DH-A7UU-01A-12D-A34A-08	4595737	78943022	62270409	30	3037											
ROR2	4920	broad.mit.edu	37	9	94493426	94493426	+	Missense_Mutation	SNP	A	A	T			TCGA-DH-A7UU-01A-12D-A34A-08	TCGA-DH-A7UU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34f4d3f4-cda0-48b2-9604-6211eb0c9b98	0fd6f503-a571-4c65-813c-7e2908dd7b21	g.chr9:94493426A>T	ENST00000375708.3	-	7	1147	c.949T>A	c.(949-951)Tat>Aat	p.Y317N	ROR2_ENST00000375715.1_Missense_Mutation_p.Y177N|ROR2_ENST00000550066.1_5'UTR	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	317	Kringle.				negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						GAGCCGTTATAGCACTGATGG	0.532													22	56					0	0	1	0	0	T	94493426	A	T	94493426	3	4	68	1	0	0	0	0	1	0	0	0	13579	420	15	5	1894	5	ROR2	9	94493426	Missense_Mutation	SNP	A	TCGA-DH-A7UU-01A-12D-A34A-08	15550404	94493426	46720005	31	3038											
PLXDC2	84898	broad.mit.edu	37	10	20453451	20453451	+	Missense_Mutation	SNP	C	C	A			TCGA-DH-A7UU-01A-12D-A34A-08	TCGA-DH-A7UU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34f4d3f4-cda0-48b2-9604-6211eb0c9b98	0fd6f503-a571-4c65-813c-7e2908dd7b21	g.chr10:20453451C>A	ENST00000377252.4	+	7	1679	c.838C>A	c.(838-840)Ctg>Atg	p.L280M	PLXDC2_ENST00000377238.2_3'UTR|PLXDC2_ENST00000377242.3_Missense_Mutation_p.L231M	NM_001282736.1|NM_032812.7	NP_001269665.1|NP_116201.7	Q6UX71	PXDC2_HUMAN	plexin domain containing 2							integral to membrane				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(9)|ovary(2)|skin(3)|stomach(1)	34						GAAAGTCGGACTGTCCGATGC	0.423													5	210					0.217242	0.217242	1	1	0	A	20453451	C	A	20453451	3	1	68	1	0	0	0	0	1	0	0	0	12166	564	20	4	864	4	PLXDC2	10	20453451	Missense_Mutation	SNP	C	TCGA-DH-A7UU-01A-12D-A34A-08		20453451	115081296	32	3039											
YME1L1	10730	broad.mit.edu	37	10	27400913	27400913	+	Missense_Mutation	SNP	A	A	C			TCGA-DH-A7UU-01A-12D-A34A-08	TCGA-DH-A7UU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34f4d3f4-cda0-48b2-9604-6211eb0c9b98	0fd6f503-a571-4c65-813c-7e2908dd7b21	g.chr10:27400913A>C	ENST00000326799.3	-	20	2463	c.2315T>G	c.(2314-2316)gTg>gGg	p.V772G	YME1L1_ENST00000375972.3_Missense_Mutation_p.V682G|YME1L1_ENST00000376016.3_Missense_Mutation_p.V715G	NM_139312.2	NP_647473.1	Q96TA2	YMEL1_HUMAN	YME1-like 1 ATPase	772					protein catabolic process|proteolysis	membrane|mitochondrion	ATP binding|metal ion binding|metalloendopeptidase activity|nucleoside-triphosphatase activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23						TTATCATCTCACTTCCAACTT	0.388													30	163					0	0	1	0	0	C	27400913	A	C	27400913	3	2	68	1	0	0	0	0	1	0	0	0	17547	159	6	5	10	5	YME1L1	10	27400913	Missense_Mutation	SNP	A	TCGA-DH-A7UU-01A-12D-A34A-08	6947462	27400913	108133834	33	3040											
OGDHL	55753	broad.mit.edu	37	10	50944446	50944446	+	Missense_Mutation	SNP	C	C	A			TCGA-DH-A7UU-01A-12D-A34A-08	TCGA-DH-A7UU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34f4d3f4-cda0-48b2-9604-6211eb0c9b98	0fd6f503-a571-4c65-813c-7e2908dd7b21	g.chr10:50944446C>A	ENST00000374103.4	-	21	2796	c.2711G>T	c.(2710-2712)aGc>aTc	p.S904I	OGDHL_ENST00000419399.1_Missense_Mutation_p.S847I|OGDHL_ENST00000490844.1_5'UTR|OGDHL_ENST00000432695.1_Missense_Mutation_p.S695I	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	904					glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						CAGGTCCTGGCTGCTCCGCTC	0.622													7	53					0.00307968	0.00324393	1	1	0	A	50944446	C	A	50944446	3	1	68	1	0	0	0	0	1	0	0	0	10888	797	28	4	333	4	OGDHL	10	50944446	Missense_Mutation	SNP	C	TCGA-DH-A7UU-01A-12D-A34A-08	23543533	50944446	84590301	34	3041											
PTEN	5728	broad.mit.edu	37	10	89711890	89711890	+	Missense_Mutation	SNP	A	A	G			TCGA-DH-A7UU-01A-12D-A34A-08	TCGA-DH-A7UU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34f4d3f4-cda0-48b2-9604-6211eb0c9b98	0fd6f503-a571-4c65-813c-7e2908dd7b21	g.chr10:89711890A>G	ENST00000371953.3	+	6	1865	c.508A>G	c.(508-510)Agt>Ggt	p.S170G		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	170	Phosphatase tensin-type.		S -> N (loss of phosphatase activity towards Ins(1,3,4,5)P4; retains ability to bind phospholipid membranes).|S -> R (in BZS; severely reduced protein phosphatase activity; loss of phosphatase activity towards Ins(1,3,4,5)P4).		activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.R55fs*1(5)|p.?(4)|p.V166fs*17(3)|p.G165fs*9(3)|p.Y27fs*1(2)|p.V166fs*10(1)|p.G165_*404del(1)|p.S170fs*13(1)|p.S170G(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		AACTATTCCCAGTCAGAGGCG	0.353		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			33	53					0	0	1	0	0	G	89711890	A	G	89711890	3	3	68	1	0	0	0	0	1	0	0	0	12787	188	7	3	530	3	PTEN	10	89711890	Missense_Mutation	SNP	A	TCGA-DH-A7UU-01A-12D-A34A-08	38767444	89711890	45822857	35	3042											
OR51T1	401665	broad.mit.edu	37	11	4903910	4903910	+	Missense_Mutation	SNP	T	T	C			TCGA-DH-A7UU-01A-12D-A34A-08	TCGA-DH-A7UU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34f4d3f4-cda0-48b2-9604-6211eb0c9b98	0fd6f503-a571-4c65-813c-7e2908dd7b21	g.chr11:4903910T>C	ENST00000380378.1	+	1	862	c.862T>C	c.(862-864)Tct>Cct	p.S288P	OR51T1_ENST00000322049.1_Missense_Mutation_p.S261P|MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001004759.1	NP_001004759.1	Q8NGJ9	O51T1_HUMAN	olfactory receptor, family 51, subfamily T, member 1	261					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		GATCAGCCTCTCTTTGGCACA	0.488													4	27					0	0	1	0	0	C	4903910	T	C	4903910	3	2	68	1	0	0	0	0	1	0	0	0	11154	1551	54	3	864	3	OR51T1	11	4903910	Missense_Mutation	SNP	T	TCGA-DH-A7UU-01A-12D-A34A-08		4903910	130102606	36	3043											
NUP160	23279	broad.mit.edu	37	11	47825055	47825055	+	Missense_Mutation	SNP	C	C	G			TCGA-DH-A7UU-01A-12D-A34A-08	TCGA-DH-A7UU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34f4d3f4-cda0-48b2-9604-6211eb0c9b98	0fd6f503-a571-4c65-813c-7e2908dd7b21	g.chr11:47825055C>G	ENST00000378460.2	-	22	2756	c.2710G>C	c.(2710-2712)Gtc>Ctc	p.V904L	NUP160_ENST00000530326.1_Missense_Mutation_p.V790L|NUP160_ENST00000528071.1_Missense_Mutation_p.V790L	NM_015231.1	NP_056046.1	Q12769	NU160_HUMAN	nucleoporin 160kDa	904					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding			NS(1)|biliary_tract(2)|breast(7)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(6)|prostate(2)|skin(2)|urinary_tract(2)	53						CCAACATTGACTTGACACCAG	0.358													37	88					0	0	1	0	0	G	47825055	C	G	47825055	3	3	68	1	0	0	0	0	1	0	0	0	10805	565	20	4	1660	4	NUP160	11	47825055	Missense_Mutation	SNP	C	TCGA-DH-A7UU-01A-12D-A34A-08	42921145	47825055	87181461	37	3044											
OR8K5	219453	broad.mit.edu	37	11	55927617	55927617	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-A7UU-01A-12D-A34A-08	TCGA-DH-A7UU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34f4d3f4-cda0-48b2-9604-6211eb0c9b98	0fd6f503-a571-4c65-813c-7e2908dd7b21	g.chr11:55927617C>T	ENST00000313447.1	-	1	176	c.177G>A	c.(175-177)atG>atA	p.M59I		NM_001004058.2	NP_001004058.2	Q8NH50	OR8K5_HUMAN	olfactory receptor, family 8, subfamily K, member 5	59					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|lung(24)|ovary(2)|pancreas(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	34	Esophageal squamous(21;0.00693)	Lung NSC(402;0.197)|all_epithelial(135;0.236)				TAGAAAAGTACATAGGTGTAT	0.398													4	110					0	0	1	0	0	T	55927617	C	T	55927617	3	4	68	1	0	0	0	0	1	0	0	0	11292	478	17	2	749	2	OR8K5	11	55927617	Missense_Mutation	SNP	C	TCGA-DH-A7UU-01A-12D-A34A-08	8102562	55927617	79078899	38	3045											
OVCH1	341350	broad.mit.edu	37	12	29639273	29639273	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-A7UU-01A-12D-A34A-08	TCGA-DH-A7UU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34f4d3f4-cda0-48b2-9604-6211eb0c9b98	0fd6f503-a571-4c65-813c-7e2908dd7b21	g.chr12:29639273G>A	ENST00000318184.5	-	8	900	c.901C>T	c.(901-903)Cgg>Tgg	p.R301W	OVCH1-AS1_ENST00000551108.1_Intron|OVCH1-AS1_ENST00000549411.1_Intron	NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1	301	CUB 1.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					GGTTGGCCCCGATCCAAACCT	0.388													14	46					0	0	1	0	0	A	29639273	G	A	29639273	3	1	68	1	0	0	0	0	1	0	0	0	11370	1057	37	1	2587	1	OVCH1	12	29639273	Missense_Mutation	SNP	G	TCGA-DH-A7UU-01A-12D-A34A-08		29639273	104212622	39	3046											
INHBE	83729	broad.mit.edu	37	12	57850626	57850626	+	Missense_Mutation	SNP	A	A	T			TCGA-DH-A7UU-01A-12D-A34A-08	TCGA-DH-A7UU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34f4d3f4-cda0-48b2-9604-6211eb0c9b98	0fd6f503-a571-4c65-813c-7e2908dd7b21	g.chr12:57850626A>T	ENST00000266646.2	+	2	1264	c.1048A>T	c.(1048-1050)Agc>Tgc	p.S350C	INHBE_ENST00000551553.1_3'UTR	NM_031479.3	NP_113667.1	P58166	INHBE_HUMAN	inhibin, beta E	350					growth	extracellular region	growth factor activity|hormone activity			breast(2)|central_nervous_system(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)	15						CTGTGGCTGCAGCTAGCAAGA	0.557											OREG0021944	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	70					0	0	1	0	0	T	57850626	A	T	57850626	3	4	68	1	0	0	0	0	1	0	0	0	7788	188	7	5	1054	5	INHBE	12	57850626	Missense_Mutation	SNP	A	TCGA-DH-A7UU-01A-12D-A34A-08	28211353	57850626	76001269	40	3047											
MON2	23041	broad.mit.edu	37	12	62918870	62918870	+	Missense_Mutation	SNP	T	T	G			TCGA-DH-A7UU-01A-12D-A34A-08	TCGA-DH-A7UU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34f4d3f4-cda0-48b2-9604-6211eb0c9b98	0fd6f503-a571-4c65-813c-7e2908dd7b21	g.chr12:62918870T>G	ENST00000393630.3	+	10	1507	c.1116T>G	c.(1114-1116)ttT>ttG	p.F372L	MON2_ENST00000546600.1_Missense_Mutation_p.F372L|MON2_ENST00000280379.6_Missense_Mutation_p.F372L|MON2_ENST00000393632.2_Missense_Mutation_p.F372L|MON2_ENST00000552738.1_Missense_Mutation_p.F372L|MON2_ENST00000393629.2_Missense_Mutation_p.F372L|MON2_ENST00000552115.1_Missense_Mutation_p.F372L	NM_001278470.1|NM_001278472.1	NP_001265399.1|NP_001265401.1	Q7Z3U7	MON2_HUMAN	MON2 homolog (S. cerevisiae)	372					Golgi to endosome transport|protein transport	cytoplasm	ARF guanyl-nucleotide exchange factor activity|binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(15)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	57			BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)		ACAGGTCATTTTGTCAGTCCT	0.303													45	45					0	0	1	0	0	G	62918870	T	G	62918870	3	3	68	1	0	0	0	0	1	0	0	0	9749	1838	64	5	1154	5	MON2	12	62918870	Missense_Mutation	SNP	T	TCGA-DH-A7UU-01A-12D-A34A-08	5068244	62918870	70933025	41	3048											
ATP12A	479	broad.mit.edu	37	13	25264609	25264609	+	Splice_Site	SNP	G	G	C	rs12866274		TCGA-DH-A7UU-01A-12D-A34A-08	TCGA-DH-A7UU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34f4d3f4-cda0-48b2-9604-6211eb0c9b98	0fd6f503-a571-4c65-813c-7e2908dd7b21	g.chr13:25264609G>C	ENST00000218548.6	+	6	1013	c.680G>C	c.(679-681)cGg>cCg	p.R227P	ATP12A_ENST00000381946.3_Splice_Site_p.R227P	NM_001185085.1|NM_001676.5	NP_001172014.1|NP_001667.4	P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	227				Missing (in Ref. 7; CAA49477).	ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding			breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)	CAGGGGTGTCGGGTAAGCGGC	0.572													16	39					0	0	1	0	0	C	25264609	G	C	25264609	5	2	68	1	0	0	0	0	0	0	1	0	1121	1130	39	5	702	5	ATP12A	13	25264609	Splice_Site	SNP	G	TCGA-DH-A7UU-01A-12D-A34A-08		25264609	89905269	42	3049											
MLH3	27030	broad.mit.edu	37	14	75516298	75516298	+	Missense_Mutation	SNP	A	A	C			TCGA-DH-A7UU-01A-12D-A34A-08	TCGA-DH-A7UU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34f4d3f4-cda0-48b2-9604-6211eb0c9b98	0fd6f503-a571-4c65-813c-7e2908dd7b21	g.chr14:75516298A>C	ENST00000355774.2	-	2	276	c.61T>G	c.(61-63)Tcc>Gcc	p.S21A	MLH3_ENST00000238662.7_Missense_Mutation_p.S21A|MLH3_ENST00000556740.1_Missense_Mutation_p.S21A|MLH3_ENST00000556257.1_Missense_Mutation_p.S21A|MLH3_ENST00000380968.2_5'UTR	NM_001040108.1	NP_001035197.1	Q9UHC1	MLH3_HUMAN	mutL homolog 3	21					mismatch repair|reciprocal meiotic recombination	chiasma|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|mismatched DNA binding|protein binding|satellite DNA binding			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	44				BRCA - Breast invasive adenocarcinoma(234;0.00688)		TGGCCCAAGGAGCTTATGGCC	0.458								Mismatch excision repair (MMR)					25	20					0	0	1	0	0	C	75516298	A	C	75516298	3	2	68	1	0	0	0	0	1	0	0	0	9666	304	11	5	4348	5	MLH3	14	75516298	Missense_Mutation	SNP	A	TCGA-DH-A7UU-01A-12D-A34A-08		75516298	31833242	43	3050											
PLCB2	5330	broad.mit.edu	37	15	40587217	40587217	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-A7UU-01A-12D-A34A-08	TCGA-DH-A7UU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34f4d3f4-cda0-48b2-9604-6211eb0c9b98	0fd6f503-a571-4c65-813c-7e2908dd7b21	g.chr15:40587217C>T	ENST00000260402.3	-	18	2075	c.1826G>A	c.(1825-1827)cGc>cAc	p.R609H	PLCB2_ENST00000557821.1_Missense_Mutation_p.R605H|PLCB2_ENST00000456256.2_Missense_Mutation_p.R609H	NM_001284297.1|NM_004573.2	NP_001271226.1|NP_004564.2	Q00722	PLCB2_HUMAN	phospholipase C, beta 2	609	PI-PLC Y-box.				activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)		GGAGTCCATGCGGGTTCCCTT	0.567													4	150					0	0	1	0	0	T	40587217	C	T	40587217	3	4	68	1	0	0	0	0	1	0	0	0	12076	768	27	1	1791	1	PLCB2	15	40587217	Missense_Mutation	SNP	C	TCGA-DH-A7UU-01A-12D-A34A-08		40587217	61944175	44	3051											
ALDH1A3	220	broad.mit.edu	37	15	101432734	101432734	+	Missense_Mutation	SNP	C	C	A			TCGA-DH-A7UU-01A-12D-A34A-08	TCGA-DH-A7UU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34f4d3f4-cda0-48b2-9604-6211eb0c9b98	0fd6f503-a571-4c65-813c-7e2908dd7b21	g.chr15:101432734C>A	ENST00000329841.5	+	4	897	c.365C>A	c.(364-366)aCa>aAa	p.T122K	ALDH1A3_ENST00000346623.6_Intron	NM_000693.2	NP_000684.2	P47895	AL1A3_HUMAN	aldehyde dehydrogenase 1 family, member A3	122					retinal metabolic process	cytoplasm	aldehyde dehydrogenase|protein homodimerization activity			NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(7)|lung(9)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	27	Lung NSC(78;0.00144)|all_lung(78;0.0018)|Melanoma(26;0.00852)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103)		NADH(DB00157)|Vitamin A(DB00162)	ACGATGGATACAGGGAAGCCA	0.468													4	86					0.000602214	0.000651711	1	1	0	A	101432734	C	A	101432734	3	1	68	1	0	0	0	0	1	0	0	0	489	478	17	5	379	5	ALDH1A3	15	101432734	Missense_Mutation	SNP	C	TCGA-DH-A7UU-01A-12D-A34A-08	60845517	101432734	1098658	45	3052											
ZP2	7783	broad.mit.edu	37	16	21212761	21212761	+	Silent	SNP	G	G	T			TCGA-DH-A7UU-01A-12D-A34A-08	TCGA-DH-A7UU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34f4d3f4-cda0-48b2-9604-6211eb0c9b98	0fd6f503-a571-4c65-813c-7e2908dd7b21	g.chr16:21212761G>T	ENST00000574002.1	-	15	2105	c.1623C>A	c.(1621-1623)gtC>gtA	p.V541V	ZP2_ENST00000574091.1_Silent_p.V532V|ZP2_ENST00000219593.4_Silent_p.V541V|AF001550.7_ENST00000572747.1_RNA			Q05996	ZP2_HUMAN	zona pellucida glycoprotein 2 (sperm receptor)	541	ZP.				binding of sperm to zona pellucida|intracellular protein transport	endoplasmic reticulum|Golgi apparatus|integral to membrane|multivesicular body|plasma membrane|proteinaceous extracellular matrix|stored secretory granule	acrosin binding|coreceptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(16)|ovary(1)|prostate(1)|stomach(1)	41				GBM - Glioblastoma multiforme(48;0.0573)		AGTCATCTAAGACCAGCTTGA	0.512													14	49					0.00185496	0.00198029	1	1	0	T	21212761	G	T	21212761	2	4	68	1	0	0	0	0	0	0	0	1	18258	929	33	4		4	ZP2	16	21212761	Silent	SNP	G	TCGA-DH-A7UU-01A-12D-A34A-08		21212761	69141992	46	3053											
RBL2	5934	broad.mit.edu	37	16	53495680	53495680	+	Silent	SNP	T	T	C			TCGA-DH-A7UU-01A-12D-A34A-08	TCGA-DH-A7UU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34f4d3f4-cda0-48b2-9604-6211eb0c9b98	0fd6f503-a571-4c65-813c-7e2908dd7b21	g.chr16:53495680T>C	ENST00000262133.6	+	10	1511	c.1374T>C	c.(1372-1374)gcT>gcC	p.A458A	RBL2_ENST00000379935.4_3'UTR|RBL2_ENST00000544545.1_Silent_p.A242A	NM_005611.3	NP_005602.3	Q08999	RBL2_HUMAN	retinoblastoma-like 2 (p130)	458	Domain A.|Pocket; binds E1A.				cell cycle|chromatin modification|regulation of cell cycle|regulation of lipid kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						CAACCCAGGCTATTGCTAACA	0.343													15	39					0	0	1	0	0	C	53495680	T	C	53495680	2	2	68	1	0	0	0	0	0	0	0	1	13162	1509	53	3		3	RBL2	16	53495680	Silent	SNP	T	TCGA-DH-A7UU-01A-12D-A34A-08	32282919	53495680	36859073	47	3054											
SLC6A2	6530	broad.mit.edu	37	16	55719086	55719086	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-A7UU-01A-12D-A34A-08	TCGA-DH-A7UU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34f4d3f4-cda0-48b2-9604-6211eb0c9b98	0fd6f503-a571-4c65-813c-7e2908dd7b21	g.chr16:55719086G>A	ENST00000379906.2	+	4	931	c.676G>A	c.(676-678)Ggg>Agg	p.G226R	SLC6A2_ENST00000219833.8_Missense_Mutation_p.G226R|SLC6A2_ENST00000414754.3_Missense_Mutation_p.G226R|SLC6A2_ENST00000561820.1_Missense_Mutation_p.G226R|SLC6A2_ENST00000568943.1_Missense_Mutation_p.G226R|SLC6A2_ENST00000567238.1_Missense_Mutation_p.G121R|SLC6A2_ENST00000566163.1_Missense_Mutation_p.G226R	NM_001043.3	NP_001034.1	P23975	SC6A2_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 2	226					synaptic transmission	integral to plasma membrane|membrane fraction	norepinephrine:sodium symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(3)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267)	Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Atomoxetine(DB00289)|Bethanidine(DB00217)|Bupropion(DB01156)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Diethylpropion(DB00937)|Doxepin(DB01142)|Duloxetine(DB00476)|Ergotamine(DB00696)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Maprotiline(DB00934)|Mazindol(DB00579)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)	CGAGAGCAGCGGGATTCATGA	0.587													8	31					0	0	1	0	0	A	55719086	G	A	55719086	3	1	68	1	0	0	0	0	1	0	0	0	14738	1116	39	1	781	1	SLC6A2	16	55719086	Missense_Mutation	SNP	G	TCGA-DH-A7UU-01A-12D-A34A-08	2223406	55719086	34635667	48	3055											
KIFC3	3801	broad.mit.edu	37	16	57803769	57803769	+	Silent	SNP	G	G	T			TCGA-DH-A7UU-01A-12D-A34A-08	TCGA-DH-A7UU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34f4d3f4-cda0-48b2-9604-6211eb0c9b98	0fd6f503-a571-4c65-813c-7e2908dd7b21	g.chr16:57803769G>T	ENST00000379655.4	-	8	1295	c.1038C>A	c.(1036-1038)gcC>gcA	p.A346A	KIFC3_ENST00000421376.2_Silent_p.A207A|KIFC3_ENST00000540079.2_Silent_p.A244A|KIFC3_ENST00000539578.1_Silent_p.A288A|KIFC3_ENST00000543930.1_Silent_p.A207A|KIFC3_ENST00000465878.2_Silent_p.A207A|KIFC3_ENST00000445690.2_Silent_p.A346A|KIFC3_ENST00000541240.1_Silent_p.A368A|KIFC3_ENST00000562903.1_Silent_p.A207A	NM_005550.3	NP_005541.3	Q9BVG8	KIFC3_HUMAN	kinesin family member C3	346					epithelial cell-cell adhesion|microtubule-based movement|visual perception|zonula adherens maintenance	centrosome|cytoplasmic vesicle membrane|kinesin complex|microtubule|zonula adherens	ATP binding|microtubule motor activity			breast(2)|central_nervous_system(3)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23		all_neural(199;0.224)				CTCTGGCAAAGGCCTCCTCAA	0.627													3	46					0.004672	0.00485642	1	1	0	T	57803769	G	T	57803769	2	4	68	1	0	0	0	0	0	0	0	1	8356	987	35	4		4	KIFC3	16	57803769	Silent	SNP	G	TCGA-DH-A7UU-01A-12D-A34A-08	2084683	57803769	32550984	49	3056											
ACSF3	197322	broad.mit.edu	37	16	89167609	89167609	+	Missense_Mutation	SNP	A	A	G			TCGA-DH-A7UU-01A-12D-A34A-08	TCGA-DH-A7UU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34f4d3f4-cda0-48b2-9604-6211eb0c9b98	0fd6f503-a571-4c65-813c-7e2908dd7b21	g.chr16:89167609A>G	ENST00000317447.4	+	3	897	c.520A>G	c.(520-522)Atc>Gtc	p.I174V	ACSF3_ENST00000406948.3_Missense_Mutation_p.I174V|ACSF3_ENST00000378345.4_Intron	NM_001127214.2|NM_001243279.1|NM_001284316.1|NM_174917.3	NP_001120686.1|NP_001230208.1|NP_001271245.1|NP_777577.2	Q4G176	ACSF3_HUMAN	acyl-CoA synthetase family member 3	174					fatty acid metabolic process	mitochondrion	acid-thiol ligase activity|ATP binding			central_nervous_system(1)|endometrium(1)|kidney(2)|lung(9)|prostate(1)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(80;0.0281)		CACACCAGCCATCTACACTGG	0.642													3	9					0	0	1	0	0	G	89167609	A	G	89167609	3	3	68	1	0	0	0	0	1	0	0	0	176	217	8	3	522	3	ACSF3	16	89167609	Missense_Mutation	SNP	A	TCGA-DH-A7UU-01A-12D-A34A-08	31363840	89167609	1187144	50	3057											
TP53	7157	broad.mit.edu	37	17	7577120	7577120	+	Missense_Mutation	SNP	C	C	A	rs28934576	by1000genomes	TCGA-DH-A7UU-01A-12D-A34A-08	TCGA-DH-A7UU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34f4d3f4-cda0-48b2-9604-6211eb0c9b98	0fd6f503-a571-4c65-813c-7e2908dd7b21	g.chr17:7577120C>A	ENST00000420246.2	-	8	950	c.818G>T	c.(817-819)cGt>cTt	p.R273L	TP53_ENST00000445888.2_Missense_Mutation_p.R273L|TP53_ENST00000359597.4_Missense_Mutation_p.R273L|TP53_ENST00000455263.2_Missense_Mutation_p.R273L|TP53_ENST00000413465.2_Intron|TP53_ENST00000269305.4_Missense_Mutation_p.R273L	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	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).		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.R273H(521)|p.R273L(93)|p.R273P(32)|p.0?(8)|p.?(2)|p.R273fs*32(2)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273S(1)|p.E258fs*71(1)|p.R273fs*72(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.R273fs*33(1)|p.E271_R273delEVR(1)|p.V272_K292del21(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	0.542	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)			20	6					1.00905e-13	1.18977e-13	1	1	0	A	7577120	C	A	7577120	3	1	68	1	0	0	0	0	1	0	0	0	16442	536	19	5	468	5	TP53	17	7577120	Missense_Mutation	SNP	C	TCGA-DH-A7UU-01A-12D-A34A-08		7577120	73618090	51	3058											
B4GALNT2	124872	broad.mit.edu	37	17	47233957	47233957	+	Missense_Mutation	SNP	G	G	A	rs149941656		TCGA-DH-A7UU-01A-12D-A34A-08	TCGA-DH-A7UU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34f4d3f4-cda0-48b2-9604-6211eb0c9b98	0fd6f503-a571-4c65-813c-7e2908dd7b21	g.chr17:47233957G>A	ENST00000300404.2	+	5	729	c.670G>A	c.(670-672)Gtc>Atc	p.V224I	B4GALNT2_ENST00000504681.1_Missense_Mutation_p.V138I|B4GALNT2_ENST00000393354.2_Missense_Mutation_p.V164I	NM_153446.2	NP_703147.2	Q8NHY0	B4GN2_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 2	224					lipid glycosylation|negative regulation of cell-cell adhesion|UDP-N-acetylgalactosamine metabolic process	integral to Golgi membrane	acetylgalactosaminyltransferase activity	p.V224I(2)		endometrium(3)|large_intestine(6)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	24			all cancers(6;0.000316)			CGATGCCCCCGTCTATGAGGT	0.572													14	56					0	0	1	0	0	A	47233957	G	A	47233957	3	1	68	1	0	0	0	0	1	0	0	0	1265	1145	40	1	706	1	B4GALNT2	17	47233957	Missense_Mutation	SNP	G	TCGA-DH-A7UU-01A-12D-A34A-08	39656837	47233957	33961253	52	3059											
FAM83D	81610	broad.mit.edu	37	20	37555323	37555325	+	In_Frame_Del	DEL	GCG	GCG	-			TCGA-DH-A7UU-01A-12D-A34A-08	TCGA-DH-A7UU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34f4d3f4-cda0-48b2-9604-6211eb0c9b98	0fd6f503-a571-4c65-813c-7e2908dd7b21	g.chr20:37555323_37555325delGCG	ENST00000217429.4	+	1	369_371	c.328_330delGCG	c.(328-330)gcgdel	p.A116del		NM_030919.2	NP_112181.2	Q9H4H8	FA83D_HUMAN	family with sequence similarity 83, member D	86					cell division|mitosis	cytoplasm|spindle pole				endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)|stomach(1)	28		Myeloproliferative disorder(115;0.00878)				AGAGGAGGGCgcggcggcggcgg	0.719													2	4	---	---	---	---						-	37555325	GCG	-	37555323	7	5	68	1	0	1	0	1	0	0	0	0	5668	1087	38	0	330	0	FAM83D	20	37555323	In_Frame_Del	DEL	GCG	TCGA-DH-A7UU-01A-12D-A34A-08		37555323	25470197	53	3060											
MOCS3	27304	broad.mit.edu	37	20	49575490	49575490	+	Silent	SNP	A	A	G			TCGA-DH-A7UU-01A-12D-A34A-08	TCGA-DH-A7UU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34f4d3f4-cda0-48b2-9604-6211eb0c9b98	0fd6f503-a571-4c65-813c-7e2908dd7b21	g.chr20:49575490A>G	ENST00000244051.1	+	1	128	c.111A>G	c.(109-111)gaA>gaG	p.E37E		NM_014484.3	NP_055299.1	O95396	MOCS3_HUMAN	molybdenum cofactor synthesis 3	37					enzyme active site formation via L-cysteine persulfide|Mo-molybdopterin cofactor biosynthetic process|tRNA thio-modification|tRNA wobble uridine modification|water-soluble vitamin metabolic process	cytosol	ATP binding|metal ion binding|nucleotidyltransferase activity|protein binding|thiosulfate sulfurtransferase activity|URM1 activating enzyme activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	24						CTGAGCAGGAACCGCAGCCAG	0.612													25	88					0	0	1	0	0	G	49575490	A	G	49575490	2	3	68	1	0	0	0	0	0	0	0	1	9741	40	2	3		3	MOCS3	20	49575490	Silent	SNP	A	TCGA-DH-A7UU-01A-12D-A34A-08	12020167	49575490	13450030	54	3061											
MYO18B	84700	broad.mit.edu	37	22	26222385	26222385	+	Missense_Mutation	SNP	T	T	C			TCGA-DH-A7UU-01A-12D-A34A-08	TCGA-DH-A7UU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34f4d3f4-cda0-48b2-9604-6211eb0c9b98	0fd6f503-a571-4c65-813c-7e2908dd7b21	g.chr22:26222385T>C	ENST00000335473.7	+	14	2955	c.2705T>C	c.(2704-2706)aTg>aCg	p.M902T	MYO18B_ENST00000536101.1_Missense_Mutation_p.M902T|MYO18B_ENST00000407587.2_Missense_Mutation_p.M902T	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	902	Myosin head-like.					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						GGGCTCAAGATGACAGGAGTG	0.542													45	59					0	0	1	0	0	C	26222385	T	C	26222385	3	2	68	1	0	0	0	0	1	0	0	0	10114	1464	51	3	2755	3	MYO18B	22	26222385	Missense_Mutation	SNP	T	TCGA-DH-A7UU-01A-12D-A34A-08		26222385	25082181	55	3062											
ZNF81	347344	broad.mit.edu	37	X	47774902	47774902	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-A7UU-01A-12D-A34A-08	TCGA-DH-A7UU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34f4d3f4-cda0-48b2-9604-6211eb0c9b98	0fd6f503-a571-4c65-813c-7e2908dd7b21	g.chrX:47774902G>A	ENST00000376954.1	+	6	1225	c.857G>A	c.(856-858)aGg>aAg	p.R286K	ZNF81_ENST00000338637.7_Missense_Mutation_p.R286K			P51508	ZNF81_HUMAN	zinc finger protein 81	286						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|large_intestine(1)|lung(1)|skin(1)	4		all_lung(315;0.0973)				TTCACCCAGAGGTCACATTTC	0.383													6	29					0	0	1	0	0	A	47774902	G	A	47774902	3	1	68	1	0	0	0	0	1	0	0	0	18222	1000	35	2	871	2	ZNF81	23	47774902	Missense_Mutation	SNP	G	TCGA-DH-A7UU-01A-12D-A34A-08		47774902	107495658	56	3063											
ACSL4	2182	broad.mit.edu	37	X	108887278	108887278	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DH-A7UU-01A-12D-A34A-08	TCGA-DH-A7UU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34f4d3f4-cda0-48b2-9604-6211eb0c9b98	0fd6f503-a571-4c65-813c-7e2908dd7b21	g.chrX:108887278G>A	ENST00000340800.2	-	17	2620	c.2116C>T	c.(2116-2118)Cga>Tga	p.R706*	ACSL4_ENST00000469796.2_Nonsense_Mutation_p.R706*|ACSL4_ENST00000348502.6_Nonsense_Mutation_p.R665*	NM_022977.2	NP_075266.1	O60488	ACSL4_HUMAN	acyl-CoA synthetase long-chain family member 4	706					fatty acid metabolic process|learning or memory|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)	22					Icosapent(DB00159)|Troglitazone(DB00197)	CCATACATTCGTTCAATGTCT	0.423													25	37					0	0	1	0	0	A	108887278	G	A	108887278	4	1	68	1	0	0	0	0	0	1	0	0	179	1153	40	1	23	1	ACSL4	23	108887278	Nonsense_Mutation	SNP	G	TCGA-DH-A7UU-01A-12D-A34A-08	61112376	108887278	46383282	57	3064											
HMGB3	3149	broad.mit.edu	37	X	150156360	150156360	+	Silent	SNP	G	G	A			TCGA-DH-A7UU-01A-12D-A34A-08	TCGA-DH-A7UU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34f4d3f4-cda0-48b2-9604-6211eb0c9b98	0fd6f503-a571-4c65-813c-7e2908dd7b21	g.chrX:150156360G>A	ENST00000325307.7	+	5	672	c.576G>A	c.(574-576)gaG>gaA	p.E192E	HMGB3_ENST00000448905.2_Silent_p.E192E	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN	high mobility group box 3	192	Asp/Glu-rich (acidic).				DNA recombination|multicellular organismal development	chromosome|nucleus	DNA bending activity|double-stranded DNA binding	p.E192E(1)		endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8	Acute lymphoblastic leukemia(192;6.56e-05)					aggaagaagaggaggaggagg	0.443													4	60					0	0	1	0	0	A	150156360	G	A	150156360	2	1	68	1	0	0	0	0	0	0	0	1	7268	991	35	2		2	HMGB3	23	150156360	Silent	SNP	G	TCGA-DH-A7UU-01A-12D-A34A-08	41269082	150156360	5114200	58	3065											
KANK4	163782	broad.mit.edu	37	1	62739953	62739953	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-A7UV-01A-12D-A34A-08	TCGA-DH-A7UV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f6d5d9d-1d5b-47c6-b4ca-276a6655f808	f6cf33cc-61be-4409-bf15-16edfe3e19bc	g.chr1:62739953C>T	ENST00000371153.4	-	3	1201	c.823G>A	c.(823-825)Gtg>Atg	p.V275M	KANK4_ENST00000354381.3_Intron	NM_181712.4	NP_859063.3	Q5T7N3	KANK4_HUMAN	KN motif and ankyrin repeat domains 4	275	Pro-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						GTGAACAACACCTCTGCTTCT	0.537													14	13					0	0	1	0	0	T	62739953	C	T	62739953	3	4	69	1	0	0	0	0	1	0	0	0	8023	507	18	2	2196	2	KANK4	1	62739953	Missense_Mutation	SNP	C	TCGA-DH-A7UV-01A-12D-A34A-08		62739953	186510668	1	3066											
NOTCH2	4853	broad.mit.edu	37	1	120491682	120491683	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-DH-A7UV-01A-12D-A34A-08	TCGA-DH-A7UV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f6d5d9d-1d5b-47c6-b4ca-276a6655f808	f6cf33cc-61be-4409-bf15-16edfe3e19bc	g.chr1:120491682_120491683delTT	ENST00000256646.2	-	16	2765_2766	c.2546_2547delAA	c.(2545-2547)aaafs	p.K849fs		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	849	EGF-like 22.				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)		TTGGTGACTCTTTGCAAACAGC	0.426			"N, F, Mis"		"marginal zone lymphoma, DLBCL"				Alagille Syndrome		OREG0013733	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	44	95	---	---	---	---						-	120491683	TT	-	120491682	7	5	69	1	0	1	0	1	0	0	0	0	10595	1606	56	0	4944	0	NOTCH2	1	120491682	Frame_Shift_Del	DEL	TT	TCGA-DH-A7UV-01A-12D-A34A-08	57751729	120491682	128758939	2	3067											
CGN	57530	broad.mit.edu	37	1	151499471	151499473	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-DH-A7UV-01A-12D-A34A-08	TCGA-DH-A7UV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f6d5d9d-1d5b-47c6-b4ca-276a6655f808	f6cf33cc-61be-4409-bf15-16edfe3e19bc	g.chr1:151499471_151499473delAGA	ENST00000271636.7	+	10	1917_1919	c.1784_1786delAGA	c.(1783-1788)gagaag>gag	p.K596del		NM_020770.2	NP_065821.1	Q9P2M7	CING_HUMAN	cingulin	590	Glu-rich.					myosin complex|tight junction	actin binding|motor activity			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			CTGCGAATGGAGAAGGAGGAGAT	0.527													18	35	---	---	---	---						-	151499473	AGA	-	151499471	7	5	69	1	0	1	0	1	0	0	0	0	3325	304	11	0	1818	0	CGN	1	151499471	In_Frame_Del	DEL	AGA	TCGA-DH-A7UV-01A-12D-A34A-08	31007789	151499471	97751150	3	3068											
ATP6V1G3	127124	broad.mit.edu	37	1	198509705	198509705	+	Missense_Mutation	SNP	T	T	C			TCGA-DH-A7UV-01A-12D-A34A-08	TCGA-DH-A7UV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f6d5d9d-1d5b-47c6-b4ca-276a6655f808	f6cf33cc-61be-4409-bf15-16edfe3e19bc	g.chr1:198509705T>C	ENST00000309309.7	-	2	181	c.76A>G	c.(76-78)Aag>Gag	p.K26E	ATP6V1G3_ENST00000281087.2_Missense_Mutation_p.K26E|ATP6V1G3_ENST00000367382.1_Missense_Mutation_p.K26E|ATP6V1G3_ENST00000367381.1_Missense_Mutation_p.K26E|ATP6V1G3_ENST00000489986.1_Missense_Mutation_p.K26E	NM_133326.1	NP_579872.1	Q96LB4	VATG3_HUMAN	ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G3	26					cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|plasma membrane|vacuolar proton-transporting V-type ATPase complex	ATPase binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|prostate(1)	7						TTACTCTTCTTGGCTTCCTCT	0.493													30	45					0	0	1	0	0	C	198509705	T	C	198509705	3	2	69	1	0	0	0	0	1	0	0	0	1186	1821	63	3	342	3	ATP6V1G3	1	198509705	Missense_Mutation	SNP	T	TCGA-DH-A7UV-01A-12D-A34A-08	47010234	198509705	50740916	4	3069											
SCN9A	6335	broad.mit.edu	37	2	167162338	167162338	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-A7UV-01A-12D-A34A-08	TCGA-DH-A7UV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f6d5d9d-1d5b-47c6-b4ca-276a6655f808	f6cf33cc-61be-4409-bf15-16edfe3e19bc	g.chr2:167162338G>A	ENST00000303354.6	-	5	903	c.563C>T	c.(562-564)cCg>cTg	p.P188L	SCN9A_ENST00000375387.4_Missense_Mutation_p.P188L|SCN9A_ENST00000409672.1_Missense_Mutation_p.P187L|SCN9A_ENST00000409435.1_Missense_Mutation_p.P187L			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	187						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	CCAGTTCCACGGGTCACGAAG	0.383													7	70					0	0	1	0	0	A	167162338	G	A	167162338	3	1	69	1	0	0	0	0	1	0	0	0	13979	1116	39	1	5465	1	SCN9A	2	167162338	Missense_Mutation	SNP	G	TCGA-DH-A7UV-01A-12D-A34A-08		167162338	76037035	5	3070											
IDH1	3417	broad.mit.edu	37	2	209113113	209113113	+	Missense_Mutation	SNP	G	G	C	rs121913499		TCGA-DH-A7UV-01A-12D-A34A-08	TCGA-DH-A7UV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f6d5d9d-1d5b-47c6-b4ca-276a6655f808	f6cf33cc-61be-4409-bf15-16edfe3e19bc	g.chr2:209113113G>C	ENST00000415913.1	-	4	775	c.394C>G	c.(394-396)Cgt>Ggt	p.R132G	IDH1_ENST00000345146.2_Missense_Mutation_p.R132G|IDH1_ENST00000446179.1_Missense_Mutation_p.R132G	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		TAAGCATGACGACCTATGATG	0.398			Mis		gliobastoma								26	43					0	0	1	0	0	C	209113113	G	C	209113113	3	2	69	1	0	0	0	0	1	0	0	0	7538	1058	37	5	878	5	IDH1	2	209113113	Missense_Mutation	SNP	G	TCGA-DH-A7UV-01A-12D-A34A-08	41950775	209113113	34086260	6	3071											
CNTN4	152330	broad.mit.edu	37	3	3078916	3078916	+	Missense_Mutation	SNP	C	C	A			TCGA-DH-A7UV-01A-12D-A34A-08	TCGA-DH-A7UV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f6d5d9d-1d5b-47c6-b4ca-276a6655f808	f6cf33cc-61be-4409-bf15-16edfe3e19bc	g.chr3:3078916C>A	ENST00000397461.1	+	17	2380	c.1996C>A	c.(1996-1998)Cct>Act	p.P666T	CNTN4_ENST00000448906.2_Missense_Mutation_p.P338T|CNTN4_ENST00000397459.2_Missense_Mutation_p.P338T|CNTN4_ENST00000358480.3_Missense_Mutation_p.P447T|CNTN4_ENST00000418658.1_Missense_Mutation_p.P666T|CNTN4_ENST00000427331.1_Missense_Mutation_p.P666T	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	666	Fibronectin type-III 1.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		GGGTTTGAACCCTTGGGTTGA	0.507													98	123					6.42612e-47	6.86427e-47	1	1	0	A	3078916	C	A	3078916	3	1	69	1	0	0	0	0	1	0	0	0	3666	623	22	5	2054	5	CNTN4	3	3078916	Missense_Mutation	SNP	C	TCGA-DH-A7UV-01A-12D-A34A-08		3078916	194943514	7	3072											
ZDHHC3	51304	broad.mit.edu	37	3	44974664	44974664	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-A7UV-01A-12D-A34A-08	TCGA-DH-A7UV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f6d5d9d-1d5b-47c6-b4ca-276a6655f808	f6cf33cc-61be-4409-bf15-16edfe3e19bc	g.chr3:44974664C>T	ENST00000296127.3	-	5	829	c.556G>A	c.(556-558)Gcc>Acc	p.A186T	ZDHHC3_ENST00000342790.4_Missense_Mutation_p.A220T|ZDHHC3_ENST00000424952.2_Missense_Mutation_p.A186T	NM_016598.2	NP_057682.1	Q9NYG2	ZDHC3_HUMAN	zinc finger, DHHC-type containing 3	186						Golgi membrane|integral to membrane	zinc ion binding			endometrium(1)|large_intestine(3)|lung(4)	8				BRCA - Breast invasive adenocarcinoma(193;0.00943)|KIRC - Kidney renal clear cell carcinoma(197;0.053)|Kidney(197;0.0665)		ATGATGAGGGCGTGCAAGGAA	0.527													17	26					0	0	1	0	0	T	44974664	C	T	44974664	3	4	69	1	0	0	0	0	1	0	0	0	17674	768	27	1	696	1	ZDHHC3	3	44974664	Missense_Mutation	SNP	C	TCGA-DH-A7UV-01A-12D-A34A-08	41895748	44974664	153047766	8	3073											
SLC33A1	9197	broad.mit.edu	37	3	155546108	155546108	+	Missense_Mutation	SNP	G	G	C			TCGA-DH-A7UV-01A-12D-A34A-08	TCGA-DH-A7UV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f6d5d9d-1d5b-47c6-b4ca-276a6655f808	f6cf33cc-61be-4409-bf15-16edfe3e19bc	g.chr3:155546108G>C	ENST00000392845.3	-	6	1921	c.1541C>G	c.(1540-1542)tCc>tGc	p.S514C	SLC33A1_ENST00000359479.3_Missense_Mutation_p.S514C			O00400	ACATN_HUMAN	solute carrier family 33 (acetyl-CoA transporter), member 1						cell death|transmembrane transport	endoplasmic reticulum membrane|Golgi membrane|integral to plasma membrane|membrane fraction	acetyl-CoA transporter activity			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	22			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			ACAAATAATGGACTCCACATA	0.348													24	28					0	0	1	0	0	C	155546108	G	C	155546108	3	2	69	1	0	0	0	0	1	0	0	0	14621	1174	41	5	112	5	SLC33A1	3	155546108	Missense_Mutation	SNP	G	TCGA-DH-A7UV-01A-12D-A34A-08	110571444	155546108	42476322	9	3074											
CLDN16	10686	broad.mit.edu	37	3	190126225	190126225	+	Missense_Mutation	SNP	G	G	A	rs104893721		TCGA-DH-A7UV-01A-12D-A34A-08	TCGA-DH-A7UV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f6d5d9d-1d5b-47c6-b4ca-276a6655f808	f6cf33cc-61be-4409-bf15-16edfe3e19bc	g.chr3:190126225G>A	ENST00000264734.2	+	4	963	c.715G>A	c.(715-717)Gga>Aga	p.G239R	CLDN16_ENST00000456423.1_Intron	NM_006580.3	NP_006571.1	Q9Y5I7	CLD16_HUMAN	claudin 16	239			G -> R (in HOMG3).		calcium-independent cell-cell adhesion|cellular metal ion homeostasis|excretion	integral to membrane|tight junction	identical protein binding|magnesium ion transmembrane transporter activity|structural molecule activity			breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|skin(1)	19	all_cancers(143;3.61e-10)|Ovarian(172;0.0991)		Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05)	GBM - Glioblastoma multiforme(93;0.018)		CTGTTGGCTCGGAATGGCTGG	0.383													46	55					0	0	1	0	0	A	190126225	G	A	190126225	3	1	69	1	0	0	0	0	1	0	0	0	3500	1117	39	1	729	1	CLDN16	3	190126225	Missense_Mutation	SNP	G	TCGA-DH-A7UV-01A-12D-A34A-08	34580117	190126225	7896205	10	3075											
FAM193A	8603	broad.mit.edu	37	4	2691417	2691417	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-A7UV-01A-12D-A34A-08	TCGA-DH-A7UV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f6d5d9d-1d5b-47c6-b4ca-276a6655f808	f6cf33cc-61be-4409-bf15-16edfe3e19bc	g.chr4:2691417C>T	ENST00000324666.5	+	12	1994	c.1643C>T	c.(1642-1644)cCa>cTa	p.P548L	FAM193A_ENST00000545951.1_Missense_Mutation_p.P548L|FAM193A_ENST00000505311.1_Missense_Mutation_p.P548L|FAM193A_ENST00000382839.3_Missense_Mutation_p.P548L|FAM193A_ENST00000502458.1_Missense_Mutation_p.P570L	NM_001256666.1	NP_001243595.1	P78312	F193A_HUMAN	family with sequence similarity 193, member A	548										NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	40						ACTTTCTTGCCAGATACAATT	0.383													4	50					0	0	1	0	0	T	2691417	C	T	2691417	3	4	69	1	0	0	0	0	1	0	0	0	5556	594	21	2	1681	2	FAM193A	4	2691417	Missense_Mutation	SNP	C	TCGA-DH-A7UV-01A-12D-A34A-08		2691417	188462859	11	3076											
SH3D19	152503	broad.mit.edu	37	4	152053505	152053506	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-DH-A7UV-01A-12D-A34A-08	TCGA-DH-A7UV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f6d5d9d-1d5b-47c6-b4ca-276a6655f808	f6cf33cc-61be-4409-bf15-16edfe3e19bc	g.chr4:152053505_152053506delTC	ENST00000409598.4	-	17	3046_3047	c.1879_1880delGA	c.(1879-1881)gaafs	p.E627fs	SH3D19_ENST00000455740.1_Frame_Shift_Del_p.E627fs|SH3D19_ENST00000304527.4_Frame_Shift_Del_p.E650fs|SH3D19_ENST00000427414.2_Frame_Shift_Del_p.E591fs|SH3D19_ENST00000514152.1_Frame_Shift_Del_p.E627fs|SH3D19_ENST00000424281.1_Frame_Shift_Del_p.E591fs|SH3D19_ENST00000409252.2_Frame_Shift_Del_p.E650fs			Q5HYK7	SH319_HUMAN	SH3 domain containing 19	650	SH3 3.				cellular membrane organization|positive regulation of membrane protein ectodomain proteolysis|post-Golgi vesicle-mediated transport	cytosol|Golgi apparatus|nucleus|plasma membrane	proline-rich region binding			autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(1)|skin(3)|urinary_tract(1)	20	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.138)				GCCAGAATCTTCTTTTTTGGTT	0.366													19	61	---	---	---	---						-	152053506	TC	-	152053505	7	5	69	1	0	1	0	1	0	0	0	0	14303	1783	62	0	439	0	SH3D19	4	152053505	Frame_Shift_Del	DEL	TC	TCGA-DH-A7UV-01A-12D-A34A-08	149362088	152053505	39100771	12	3077											
ROS1	6098	broad.mit.edu	37	6	117717388	117717388	+	Silent	SNP	T	T	C			TCGA-DH-A7UV-01A-12D-A34A-08	TCGA-DH-A7UV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f6d5d9d-1d5b-47c6-b4ca-276a6655f808	f6cf33cc-61be-4409-bf15-16edfe3e19bc	g.chr6:117717388T>C	ENST00000368508.3	-	8	1017	c.819A>G	c.(817-819)ccA>ccG	p.P273P	ROS1_ENST00000368507.3_Silent_p.P282P|GOPC_ENST00000467125.1_Intron	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	273	Fibronectin type-III 2.				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		ATTCTGCTTCTGGACCCTCAC	0.438			T	"GOPC, SDC4, SLC34A2, EZR, LRIG3"	"glioblastoma, NSCLC"								5	102					0	0	1	0	0	C	117717388	T	C	117717388	2	2	69	1	0	0	0	0	0	0	0	1	13583	1567	55	3		3	ROS1	6	117717388	Silent	SNP	T	TCGA-DH-A7UV-01A-12D-A34A-08		117717388	53397679	13	3078											
TAGAP	117289	broad.mit.edu	37	6	159457333	159457333	+	Silent	SNP	G	G	A			TCGA-DH-A7UV-01A-12D-A34A-08	TCGA-DH-A7UV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f6d5d9d-1d5b-47c6-b4ca-276a6655f808	f6cf33cc-61be-4409-bf15-16edfe3e19bc	g.chr6:159457333G>A	ENST00000367066.3	-	10	2053	c.1722C>T	c.(1720-1722)caC>caT	p.H574H	TAGAP_ENST00000326965.6_Silent_p.H396H|RP1-111C20.4_ENST00000607796.1_RNA|RP1-111C20.4_ENST00000606470.1_RNA|RP1-111C20.4_ENST00000606466.1_RNA|RP1-111C20.4_ENST00000607391.1_RNA	NM_001278733.1|NM_054114.3	NP_001265662.1|NP_473455.2	Q8N103	TAGAP_HUMAN	T-cell activation RhoGTPase activating protein	574					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|guanyl-nucleotide exchange factor activity			NS(1)|autonomic_ganglia(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(2)|skin(1)	23		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-16)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		CCGAGAGGGCGTGGGGTCTCA	0.612													6	98					0	0	1	0	0	A	159457333	G	A	159457333	2	1	69	1	0	0	0	0	0	0	0	1	15594	1136	40	1		1	TAGAP	6	159457333	Silent	SNP	G	TCGA-DH-A7UV-01A-12D-A34A-08	41739945	159457333	11657734	14	3079											
CD36	948	broad.mit.edu	37	7	80302135	80302135	+	Missense_Mutation	SNP	T	T	C			TCGA-DH-A7UV-01A-12D-A34A-08	TCGA-DH-A7UV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f6d5d9d-1d5b-47c6-b4ca-276a6655f808	f6cf33cc-61be-4409-bf15-16edfe3e19bc	g.chr7:80302135T>C	ENST00000435819.1	+	15	1859	c.1175T>C	c.(1174-1176)tTg>tCg	p.L392S	CD36_ENST00000394788.3_Missense_Mutation_p.L392S|CD36_ENST00000544133.1_3'UTR|CD36_ENST00000309881.7_Missense_Mutation_p.L392S|CD36_ENST00000538969.1_Missense_Mutation_p.L332S|CD36_ENST00000433696.2_Missense_Mutation_p.L353S|CD36_ENST00000447544.2_Missense_Mutation_p.L392S|CD36_ENST00000432207.1_Missense_Mutation_p.L392S|CD36_ENST00000534394.1_Missense_Mutation_p.L316S			P16671	CD36_HUMAN	CD36 molecule (thrombospondin receptor)	392					cell adhesion|cGMP-mediated signaling|cholesterol transport|lipid metabolic process|lipid storage|lipoprotein transport|low-density lipoprotein particle clearance|nitric oxide mediated signal transduction|plasma membrane long-chain fatty acid transport|platelet activation|platelet degranulation|positive regulation of cell-matrix adhesion|positive regulation of macrophage derived foam cell differentiation	integral to plasma membrane|membrane fraction|platelet alpha granule membrane	lipid binding|low-density lipoprotein receptor activity|thrombospondin receptor activity|transforming growth factor beta binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(10)|large_intestine(1)|lung(6)|ovary(1)	21						GTCAACCTATTGGTCAAGCCA	0.303													9	50					0	0	1	0	0	C	80302135	T	C	80302135	3	2	69	1	0	0	0	0	1	0	0	0	3029	1821	63	3	1213	3	CD36	7	80302135	Missense_Mutation	SNP	T	TCGA-DH-A7UV-01A-12D-A34A-08		80302135	78836528	15	3080											
FSCN3	29999	broad.mit.edu	37	7	127235774	127235774	+	Silent	SNP	T	T	C			TCGA-DH-A7UV-01A-12D-A34A-08	TCGA-DH-A7UV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f6d5d9d-1d5b-47c6-b4ca-276a6655f808	f6cf33cc-61be-4409-bf15-16edfe3e19bc	g.chr7:127235774T>C	ENST00000265825.5	+	2	777	c.558T>C	c.(556-558)gaT>gaC	p.D186D	FSCN3_ENST00000420086.2_Silent_p.D52D	NM_020369.2	NP_065102.1	Q9NQT6	FSCN3_HUMAN	fascin homolog 3, actin-bundling protein, testicular (Strongylocentrotus purpuratus)	186						actin cytoskeleton|cytoplasm	actin filament binding|protein binding, bridging			endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30						ATTTCCGAGATGGATGCTACC	0.577													23	85					0	0	1	0	0	C	127235774	T	C	127235774	2	2	69	1	0	0	0	0	0	0	0	1	6104	1461	51	3		3	FSCN3	7	127235774	Silent	SNP	T	TCGA-DH-A7UV-01A-12D-A34A-08	46933639	127235774	31902889	16	3081											
FREM1	158326	broad.mit.edu	37	9	14797510	14797510	+	Missense_Mutation	SNP	T	T	G			TCGA-DH-A7UV-01A-12D-A34A-08	TCGA-DH-A7UV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f6d5d9d-1d5b-47c6-b4ca-276a6655f808	f6cf33cc-61be-4409-bf15-16edfe3e19bc	g.chr9:14797510T>G	ENST00000380881.4	-	22	4643	c.3828A>C	c.(3826-3828)aaA>aaC	p.K1276N	FREM1_ENST00000380880.3_Missense_Mutation_p.K1275N|FREM1_ENST00000422223.2_Missense_Mutation_p.K1275N			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	1275					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		TCAGCATTGGTTTTTCATCAT	0.378													15	34					0	0	1	0	0	G	14797510	T	G	14797510	3	3	69	1	0	0	0	0	1	0	0	0	6079	1722	60	5	2832	5	FREM1	9	14797510	Missense_Mutation	SNP	T	TCGA-DH-A7UV-01A-12D-A34A-08		14797510	126415921	17	3082											
PCDH15	65217	broad.mit.edu	37	10	55581623	55581623	+	Missense_Mutation	SNP	G	G	C			TCGA-DH-A7UV-01A-12D-A34A-08	TCGA-DH-A7UV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f6d5d9d-1d5b-47c6-b4ca-276a6655f808	f6cf33cc-61be-4409-bf15-16edfe3e19bc	g.chr10:55581623G>C	ENST00000361849.3	-	34	6263	c.5869C>G	c.(5869-5871)Ctg>Gtg	p.L1957V	PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395445.1_Intron|PCDH15_ENST00000395432.2_Missense_Mutation_p.L1915V|PCDH15_ENST00000373957.3_Missense_Mutation_p.L809V|PCDH15_ENST00000395438.1_Intron|PCDH15_ENST00000395433.1_Missense_Mutation_p.L1932V|PCDH15_ENST00000437009.1_Missense_Mutation_p.L1886V|PCDH15_ENST00000395430.1_Missense_Mutation_p.L1952V|PCDH15_ENST00000320301.6_Missense_Mutation_p.L1955V|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000463095.1_5'UTR	NM_001142763.1|NM_001142764.1|NM_001142765.1|NM_001142768.1	NP_001136235.1|NP_001136236.1|NP_001136237.1|NP_001136240.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1955					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				CAACATTACAGTGAAGTAGAT	0.338										HNSCC(58;0.16)			35	53					0	0	1	0	0	C	55581623	G	C	55581623	3	2	69	1	0	0	0	0	1	0	0	0	11558	1020	36	4	1614	4	PCDH15	10	55581623	Missense_Mutation	SNP	G	TCGA-DH-A7UV-01A-12D-A34A-08		55581623	79953124	18	3083											
PTEN	5728	broad.mit.edu	37	10	89725053	89725053	+	Missense_Mutation	SNP	T	T	C			TCGA-DH-A7UV-01A-12D-A34A-08	TCGA-DH-A7UV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f6d5d9d-1d5b-47c6-b4ca-276a6655f808	f6cf33cc-61be-4409-bf15-16edfe3e19bc	g.chr10:89725053T>C	ENST00000371953.3	+	9	2393	c.1036T>C	c.(1036-1038)Tac>Cac	p.Y346H		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	346	C2 tensin-type.				activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.R55fs*1(5)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G165_*404del(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		GGTGAAGCTGTACTTCACAAA	0.323		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			9	18					0	0	1	0	0	C	89725053	T	C	89725053	3	2	69	1	0	0	0	0	1	0	0	0	12787	1638	57	3	1070	3	PTEN	10	89725053	Missense_Mutation	SNP	T	TCGA-DH-A7UV-01A-12D-A34A-08	34143430	89725053	45809694	19	3084											
GIF	2694	broad.mit.edu	37	11	59604797	59604797	+	Missense_Mutation	SNP	T	T	C			TCGA-DH-A7UV-01A-12D-A34A-08	TCGA-DH-A7UV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f6d5d9d-1d5b-47c6-b4ca-276a6655f808	f6cf33cc-61be-4409-bf15-16edfe3e19bc	g.chr11:59604797T>C	ENST00000541311.1	-	6	880	c.646A>G	c.(646-648)Aaa>Gaa	p.K216E	GIF_ENST00000257248.2_Missense_Mutation_p.K241E			P27352	IF_HUMAN	gastric intrinsic factor (vitamin B synthesis)	241					cobalamin metabolic process|cobalamin transport|cobalt ion transport	apical plasma membrane|endosome|extracellular space|microvillus	cobalamin binding			large_intestine(4)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	17						CATTCCTTTTTAGATGGCTCA	0.438													13	23					0	0	1	0	0	C	59604797	T	C	59604797	3	2	69	1	0	0	0	0	1	0	0	0	6418	1763	61	3	548	3	GIF	11	59604797	Missense_Mutation	SNP	T	TCGA-DH-A7UV-01A-12D-A34A-08		59604797	75401719	20	3085											
ZNF202	7753	broad.mit.edu	37	11	123598184	123598184	+	Splice_Site	SNP	C	C	G			TCGA-DH-A7UV-01A-12D-A34A-08	TCGA-DH-A7UV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f6d5d9d-1d5b-47c6-b4ca-276a6655f808	f6cf33cc-61be-4409-bf15-16edfe3e19bc	g.chr11:123598184C>G	ENST00000336139.4	-	7	1314	c.952G>C	c.(952-954)Gga>Cga	p.G318R	ZNF202_ENST00000530393.1_Splice_Site_p.G318R|ZNF202_ENST00000529691.1_Splice_Site_p.G318R			O95125	ZN202_HUMAN	zinc finger protein 202	318					lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.03)		CATTCCTCACCTGTGTAGGTA	0.512													4	50					0	0	1	0	0	G	123598184	C	G	123598184	5	3	69	1	0	0	0	0	0	0	1	0	17821	695	24	4	1002	4	ZNF202	11	123598184	Splice_Site	SNP	C	TCGA-DH-A7UV-01A-12D-A34A-08	63993387	123598184	11408332	21	3086											
ST14	6768	broad.mit.edu	37	11	130058057	130058057	+	Missense_Mutation	SNP	G	G	A	rs142893442		TCGA-DH-A7UV-01A-12D-A34A-08	TCGA-DH-A7UV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f6d5d9d-1d5b-47c6-b4ca-276a6655f808	f6cf33cc-61be-4409-bf15-16edfe3e19bc	g.chr11:130058057G>A	ENST00000278742.5	+	2	548	c.130G>A	c.(130-132)Gtc>Atc	p.V44I		NM_021978.3	NP_068813.1	Q9Y5Y6	ST14_HUMAN	suppression of tumorigenicity 14 (colon carcinoma)	44					proteolysis	integral to plasma membrane	serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|pancreas(2)|prostate(1)|skin(3)	32	all_hematologic(175;0.0429)	Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228)	Urokinase(DB00013)	AGTCAACAACGTCAAGAAGGT	0.622													9	13					0	0	1	0	0	A	130058057	G	A	130058057	3	1	69	1	0	0	0	0	1	0	0	0	15267	1145	40	1	136	1	ST14	11	130058057	Missense_Mutation	SNP	G	TCGA-DH-A7UV-01A-12D-A34A-08	6459873	130058057	4948459	22	3087											
SCNN1A	6337	broad.mit.edu	37	12	6483848	6483848	+	Silent	SNP	T	T	C			TCGA-DH-A7UV-01A-12D-A34A-08	TCGA-DH-A7UV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f6d5d9d-1d5b-47c6-b4ca-276a6655f808	f6cf33cc-61be-4409-bf15-16edfe3e19bc	g.chr12:6483848T>C	ENST00000358945.3	-	1	542	c.102A>G	c.(100-102)gaA>gaG	p.E34E	SCNN1A_ENST00000360168.3_Silent_p.E93E|SCNN1A_ENST00000538979.1_Intron|SCNN1A_ENST00000396966.2_Silent_p.E34E|SCNN1A_ENST00000543768.1_Silent_p.E57E|SCNN1A_ENST00000228916.2_Silent_p.E34E			P37088	SCNNA_HUMAN	sodium channel, non-voltage-gated 1 alpha subunit	34					excretion|response to stimulus|sensory perception of taste	apical plasma membrane	WW domain binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(2)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	27					Amiloride(DB00594)|Triamterene(DB00384)	GCGCCGCAGGTTCGGGGCCCA	0.642													6	35					0	0	1	0	0	C	6483848	T	C	6483848	2	2	69	1	0	0	0	0	0	0	0	1	13981	1722	60	3		3	SCNN1A	12	6483848	Silent	SNP	T	TCGA-DH-A7UV-01A-12D-A34A-08		6483848	127368047	23	3088											
CLEC12B	387837	broad.mit.edu	37	12	10165410	10165410	+	Missense_Mutation	SNP	C	C	G			TCGA-DH-A7UV-01A-12D-A34A-08	TCGA-DH-A7UV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f6d5d9d-1d5b-47c6-b4ca-276a6655f808	f6cf33cc-61be-4409-bf15-16edfe3e19bc	g.chr12:10165410C>G	ENST00000396502.1	+	2	246	c.118C>G	c.(118-120)Cgt>Ggt	p.R40G	CLEC12B_ENST00000338896.5_Missense_Mutation_p.R40G|CLEC1B_ENST00000428126.2_Intron	NM_205852.2	NP_995324.2	Q2HXU8	CL12B_HUMAN	C-type lectin domain family 12, member B	40						integral to membrane|plasma membrane	receptor activity|sugar binding			central_nervous_system(2)|large_intestine(2)|lung(5)	9						TCCCATTTGGCGTCATGCTGC	0.463													3	58					0	0	1	0	0	G	10165410	C	G	10165410	3	3	69	1	0	0	0	0	1	0	0	0	3521	768	27	5	124	5	CLEC12B	12	10165410	Missense_Mutation	SNP	C	TCGA-DH-A7UV-01A-12D-A34A-08	3681562	10165410	123686485	24	3089											
RNF17	56163	broad.mit.edu	37	13	25451163	25451163	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-A7UV-01A-12D-A34A-08	TCGA-DH-A7UV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f6d5d9d-1d5b-47c6-b4ca-276a6655f808	f6cf33cc-61be-4409-bf15-16edfe3e19bc	g.chr13:25451163C>T	ENST00000255324.5	+	34	4664	c.4612C>T	c.(4612-4614)Cgg>Tgg	p.R1538W	RNF17_ENST00000339524.3_Missense_Mutation_p.R548W|RNF17_ENST00000381921.1_Missense_Mutation_p.R1496W	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	1538	Tudor 4.				multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		TCATCTTATGCGGTATCCAGC	0.403													23	50					0	0	1	0	0	T	25451163	C	T	25451163	3	4	69	1	0	0	0	0	1	0	0	0	13513	759	27	1	4746	1	RNF17	13	25451163	Missense_Mutation	SNP	C	TCGA-DH-A7UV-01A-12D-A34A-08		25451163	89718715	25	3090											
PSMC1	5700	broad.mit.edu	37	14	90722942	90722942	+	Translation_Start_Site	SNP	A	A	G			TCGA-DH-A7UV-01A-12D-A34A-08	TCGA-DH-A7UV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f6d5d9d-1d5b-47c6-b4ca-276a6655f808	f6cf33cc-61be-4409-bf15-16edfe3e19bc	g.chr14:90722942A>G	ENST00000261303.8	+	1	104	c.1A>G	c.(1-3)Atg>Gtg	p.M1V	PSMC1_ENST00000543772.2_5'UTR	NM_002802.2	NP_002793.2	P62191	PRS4_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 1	1					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding			endometrium(2)|kidney(2)|upper_aerodigestive_tract(2)	6		all_cancers(154;0.142)		COAD - Colon adenocarcinoma(157;0.21)		CCAAGGCAAGATGGTGAGTGA	0.622													9	5					0	0	1	0	0	G	90722942	A	G	90722942	1	3	69	1	0	0	0	0	0	0	0	0	12734	333	12	3		3	PSMC1	14	90722942	Translation_Start_Site	SNP	A	TCGA-DH-A7UV-01A-12D-A34A-08		90722942	16626598	26	3091											
VPS18	57617	broad.mit.edu	37	15	41191832	41191832	+	Missense_Mutation	SNP	C	C	G			TCGA-DH-A7UV-01A-12D-A34A-08	TCGA-DH-A7UV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f6d5d9d-1d5b-47c6-b4ca-276a6655f808	f6cf33cc-61be-4409-bf15-16edfe3e19bc	g.chr15:41191832C>G	ENST00000220509.5	+	4	1155	c.816C>G	c.(814-816)ttC>ttG	p.F272L	VPS18_ENST00000558474.1_Intron	NM_020857.2	NP_065908.1	Q9P253	VPS18_HUMAN	vacuolar protein sorting 18 homolog (S. cerevisiae)	272					endosome organization|lysosome organization|protein transport	HOPS complex|late endosome membrane|lysosomal membrane	metal ion binding|protein binding			autonomic_ganglia(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	28		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)		AGTTGGCCTTCTACACCCCCA	0.622													32	38					0	0	1	0	0	G	41191832	C	G	41191832	3	3	69	1	0	0	0	0	1	0	0	0	17254	912	32	4	830	4	VPS18	15	41191832	Missense_Mutation	SNP	C	TCGA-DH-A7UV-01A-12D-A34A-08		41191832	61339560	27	3092											
USP3	9960	broad.mit.edu	37	15	63855173	63855173	+	Translation_Start_Site	SNP	T	T	G			TCGA-DH-A7UV-01A-12D-A34A-08	TCGA-DH-A7UV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f6d5d9d-1d5b-47c6-b4ca-276a6655f808	f6cf33cc-61be-4409-bf15-16edfe3e19bc	g.chr15:63855173T>G	ENST00000539772.1	+	0	255				USP3_ENST00000268049.7_Missense_Mutation_p.F221V|USP3_ENST00000559711.1_Missense_Mutation_p.F154V|USP3_ENST00000540797.1_Missense_Mutation_p.F199V|USP3_ENST00000380324.3_Missense_Mutation_p.F243V|USP3-AS1_ENST00000559357.1_RNA|USP3_ENST00000536001.1_3'UTR|USP3-AS1_ENST00000560350.1_RNA|USP3-AS1_ENST00000559861.1_RNA|USP3_ENST00000558285.1_Missense_Mutation_p.F226V			Q9Y6I4	UBP3_HUMAN	ubiquitin specific peptidase 3						DNA repair|histone deubiquitination|mitotic cell cycle|regulation of protein stability|ubiquitin-dependent protein catabolic process	nuclear chromatin	histone binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			endometrium(3)|large_intestine(7)|lung(4)	14				GBM - Glioblastoma multiforme(80;0.0187)		AGAGTCCTTATTTTATGTTGT	0.343													32	57					0	0	1	0	0	G	63855173	T	G	63855173	1	3	69	1	0	0	0	0	0	0	0	0	17120	1493	52	4		4	USP3	15	63855173	Translation_Start_Site	SNP	T	TCGA-DH-A7UV-01A-12D-A34A-08	22663341	63855173	38676219	28	3093											
C15orf27	123591	broad.mit.edu	37	15	76449044	76449044	+	Missense_Mutation	SNP	A	A	G			TCGA-DH-A7UV-01A-12D-A34A-08	TCGA-DH-A7UV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f6d5d9d-1d5b-47c6-b4ca-276a6655f808	f6cf33cc-61be-4409-bf15-16edfe3e19bc	g.chr15:76449044A>G	ENST00000388942.3	+	4	603	c.327A>G	c.(325-327)atA>atG	p.I109M		NM_152335.2	NP_689548.2	Q2M3C6	CO027_HUMAN	chromosome 15 open reading frame 27	109						integral to membrane				endometrium(1)|large_intestine(1)|lung(10)|pancreas(1)	13						CCTGTGTAATATTGGTGGTGA	0.448													28	49					0	0	1	0	0	G	76449044	A	G	76449044	3	3	69	1	0	0	0	0	1	0	0	0	1794	439	16	3	337	3	C15orf27	15	76449044	Missense_Mutation	SNP	A	TCGA-DH-A7UV-01A-12D-A34A-08	12593871	76449044	26082348	29	3094											
PSMB10	5699	broad.mit.edu	37	16	67968568	67968568	+	Silent	SNP	G	G	A			TCGA-DH-A7UV-01A-12D-A34A-08	TCGA-DH-A7UV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f6d5d9d-1d5b-47c6-b4ca-276a6655f808	f6cf33cc-61be-4409-bf15-16edfe3e19bc	g.chr16:67968568G>A	ENST00000358514.4	-	8	1054	c.717C>T	c.(715-717)ggC>ggT	p.G239G	CTC-479C5.12_ENST00000573493.1_3'UTR	NM_002801.3	NP_002792.1	P40306	PSB10_HUMAN	proteasome (prosome, macropain) subunit, beta type, 10	239					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|humoral immune response|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex	threonine-type endopeptidase activity	p.G239G(2)		NS(2)|endometrium(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00415)|Epithelial(162;0.0182)|all cancers(182;0.119)		AGTGGTAGCGGCCAGACCTGG	0.597													3	75					0	0	1	0	0	A	67968568	G	A	67968568	2	1	69	1	0	0	0	0	0	0	0	1	12724	1190	42	2		2	PSMB10	16	67968568	Silent	SNP	G	TCGA-DH-A7UV-01A-12D-A34A-08		67968568	22386185	30	3095											
TP53	7157	broad.mit.edu	37	17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	rs121913343		TCGA-DH-A7UV-01A-12D-A34A-08	TCGA-DH-A7UV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f6d5d9d-1d5b-47c6-b4ca-276a6655f808	f6cf33cc-61be-4409-bf15-16edfe3e19bc	g.chr17:7577121G>A	ENST00000420246.2	-	8	949	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron|TP53_ENST00000269305.4_Missense_Mutation_p.R273C|TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000445888.2_Missense_Mutation_p.R273C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	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).		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.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			22	7					0	0	1	0	0	A	7577121	G	A	7577121	3	1	69	1	0	0	0	0	1	0	0	0	16442	1087	38	1	469	1	TP53	17	7577121	Missense_Mutation	SNP	G	TCGA-DH-A7UV-01A-12D-A34A-08		7577121	73618089	31	3096											
SLC6A4	6532	broad.mit.edu	37	17	28537613	28537613	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-A7UV-01A-12D-A34A-08	TCGA-DH-A7UV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f6d5d9d-1d5b-47c6-b4ca-276a6655f808	f6cf33cc-61be-4409-bf15-16edfe3e19bc	g.chr17:28537613C>T	ENST00000401766.2	-	10	1881	c.1369G>A	c.(1369-1371)Gtc>Atc	p.V457I	SLC6A4_ENST00000261707.3_Missense_Mutation_p.V457I			P31645	SC6A4_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 4	457					response to toxin|serotonin uptake|thalamus development	cytosol|endomembrane system|endosome membrane|membrane raft	actin filament binding|Rab GTPase binding|serotonin transmembrane transporter activity|serotonin:sodium symporter activity	p.V457I(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(4)	25					Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Doxepin(DB01142)|Duloxetine(DB00476)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Minaprine(DB00805)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phentermine(DB00191)|Protriptyline(DB00344)|Sertraline(DB01104)|Sibutramine(DB01105)|Tegaserod(DB01079)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Zimelidine(DB04832)	TTGGCCCAGACGTGTGGGAAC	0.597													4	63					0	0	1	0	0	T	28537613	C	T	28537613	3	4	69	1	0	0	0	0	1	0	0	0	14741	536	19	1	543	1	SLC6A4	17	28537613	Missense_Mutation	SNP	C	TCGA-DH-A7UV-01A-12D-A34A-08	20960492	28537613	52657597	32	3097											
CCT6B	10693	broad.mit.edu	37	17	33258005	33258005	+	Silent	SNP	G	G	T			TCGA-DH-A7UV-01A-12D-A34A-08	TCGA-DH-A7UV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f6d5d9d-1d5b-47c6-b4ca-276a6655f808	f6cf33cc-61be-4409-bf15-16edfe3e19bc	g.chr17:33258005G>T	ENST00000314144.5	-	12	1528	c.1413C>A	c.(1411-1413)gtC>gtA	p.V471V	CCT6B_ENST00000436961.3_Silent_p.V426V|CCT6B_ENST00000421975.3_Silent_p.V434V	NM_006584.3	NP_006575.2	Q92526	TCPW_HUMAN	chaperonin containing TCP1, subunit 6B (zeta 2)	471					chaperone-mediated protein complex assembly|protein folding|spermatogenesis	cytoplasm	ATP binding|protein transporter activity|unfolded protein binding			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)	20		Ovarian(249;0.17)				GTTTTGACTCGACATGCTCAG	0.333													31	56					2.95478e-19	3.0861e-19	1	1	0	T	33258005	G	T	33258005	2	4	69	1	0	0	0	0	0	0	0	1	2980	1045	37	5		5	CCT6B	17	33258005	Silent	SNP	G	TCGA-DH-A7UV-01A-12D-A34A-08	4720392	33258005	47937205	33	3098											
MAPK4	5596	broad.mit.edu	37	18	48252529	48252529	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-A7UV-01A-12D-A34A-08	TCGA-DH-A7UV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f6d5d9d-1d5b-47c6-b4ca-276a6655f808	f6cf33cc-61be-4409-bf15-16edfe3e19bc	g.chr18:48252529G>A	ENST00000400384.2	+	5	2087	c.1051G>A	c.(1051-1053)Gac>Aac	p.D351N	MAPK4_ENST00000540640.1_Missense_Mutation_p.D140N|MAPK4_ENST00000592595.1_Intron	NM_002747.3	NP_002738.2	P31152	MK04_HUMAN	mitogen-activated protein kinase 4	351					cell cycle		ATP binding|MAP kinase activity			lung(4)|skin(3)|upper_aerodigestive_tract(1)	8		Colorectal(6;0.0297)		Colorectal(21;0.156)		GTCCAACTGGGACACGTGCAG	0.587													8	24					0	0	1	0	0	A	48252529	G	A	48252529	3	1	69	1	0	0	0	0	1	0	0	0	9330	1174	41	2	1065	2	MAPK4	18	48252529	Missense_Mutation	SNP	G	TCGA-DH-A7UV-01A-12D-A34A-08		48252529	29824719	34	3099											
SMARCA4	6597	broad.mit.edu	37	19	11106926	11106928	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-DH-A7UV-01A-12D-A34A-08	TCGA-DH-A7UV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f6d5d9d-1d5b-47c6-b4ca-276a6655f808	f6cf33cc-61be-4409-bf15-16edfe3e19bc	g.chr19:11106926_11106928delAGA	ENST00000358026.2	+	10	1915_1917	c.1631_1633delAGA	c.(1630-1635)cagaag>cag	p.K546del	SMARCA4_ENST00000429416.3_In_Frame_Del_p.K546del|SMARCA4_ENST00000450717.3_In_Frame_Del_p.K546del|SMARCA4_ENST00000541122.2_In_Frame_Del_p.K546del|SMARCA4_ENST00000444061.3_In_Frame_Del_p.K546del|SMARCA4_ENST00000413806.3_In_Frame_Del_p.K546del|SMARCA4_ENST00000590574.1_In_Frame_Del_p.K546del|SMARCA4_ENST00000344626.4_In_Frame_Del_p.K546del|SMARCA4_ENST00000589677.1_In_Frame_Del_p.K546del	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	546					chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				CTCATCGACCAGAAGAAGGACAA	0.576			"F, N, Mis"		NSCLC								11	121	---	---	---	---						-	11106928	AGA	-	11106926	7	5	69	1	0	1	0	1	0	0	0	0	14824	188	7	0	1665	0	SMARCA4	19	11106926	In_Frame_Del	DEL	AGA	TCGA-DH-A7UV-01A-12D-A34A-08		11106926	48022057	35	3100											
KRTAP12-4	386684	broad.mit.edu	37	21	46074320	46074320	+	Missense_Mutation	SNP	C	C	G			TCGA-DH-A7UV-01A-12D-A34A-08	TCGA-DH-A7UV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f6d5d9d-1d5b-47c6-b4ca-276a6655f808	f6cf33cc-61be-4409-bf15-16edfe3e19bc	g.chr21:46074320C>G	ENST00000391618.1	-	1	256	c.212G>C	c.(211-213)tGt>tCt	p.C71S	TSPEAR_ENST00000323084.4_Intron	NM_198698.1	NP_941971.1	P60329	KR124_HUMAN	keratin associated protein 12-4	71	15 X 5 AA approximate repeats.					keratin filament				lung(4)|ovary(1)|prostate(1)	6						CACAGGCACACAGCAGGCCAC	0.647													13	29					0	0	1	0	0	G	46074320	C	G	46074320	3	3	69	1	0	0	0	0	1	0	0	0	8564	478	17	5	130	5	KRTAP12-4	21	46074320	Missense_Mutation	SNP	C	TCGA-DH-A7UV-01A-12D-A34A-08		46074320	2055575	36	3101											
BCOR	54880	broad.mit.edu	37	X	39913577	39913577	+	Missense_Mutation	SNP	T	T	C			TCGA-DH-A7UV-01A-12D-A34A-08	TCGA-DH-A7UV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f6d5d9d-1d5b-47c6-b4ca-276a6655f808	f6cf33cc-61be-4409-bf15-16edfe3e19bc	g.chrX:39913577T>C	ENST00000342274.4	-	13	5011	c.4649A>G	c.(4648-4650)aAt>aGt	p.N1550S	BCOR_ENST00000397354.3_Missense_Mutation_p.N1550S|BCOR_ENST00000378455.4_Missense_Mutation_p.N1532S|BCOR_ENST00000378444.4_Missense_Mutation_p.N1584S|BCOR_ENST00000378463.1_Missense_Mutation_p.N427S	NM_001123383.1	NP_001116855.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	1584					heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						CTGGAGGTCATTTAAATAATC	0.423			"F, N, S, T"	RARA	"retinoblastoma, AML, APL(translocation)"		oculo-facio-cardio-dental genetic						9	3					0	0	1	0	0	C	39913577	T	C	39913577	3	2	69	1	0	0	0	0	1	0	0	0	1384	1493	52	3	528	3	BCOR	23	39913577	Missense_Mutation	SNP	T	TCGA-DH-A7UV-01A-12D-A34A-08		39913577	115356983	37	3102											
CCNB3	85417	broad.mit.edu	37	X	50085216	50085216	+	Missense_Mutation	SNP	A	A	C			TCGA-DH-A7UV-01A-12D-A34A-08	TCGA-DH-A7UV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f6d5d9d-1d5b-47c6-b4ca-276a6655f808	f6cf33cc-61be-4409-bf15-16edfe3e19bc	g.chrX:50085216A>C	ENST00000376042.1	+	9	3830	c.3532A>C	c.(3532-3534)Acc>Ccc	p.T1178P	CCNB3_ENST00000276014.7_Missense_Mutation_p.T1178P|CCNB3_ENST00000376038.1_Missense_Mutation_p.T74P|CCNB3_ENST00000348603.2_Missense_Mutation_p.T74P			Q8WWL7	CCNB3_HUMAN	cyclin B3	1178					cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding			breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					CTTTGAGATGACCCATGAGAC	0.493													5	58					0	0	1	0	0	C	50085216	A	C	50085216	3	2	69	1	0	0	0	0	1	0	0	0	2936	275	10	5	3558	5	CCNB3	23	50085216	Missense_Mutation	SNP	A	TCGA-DH-A7UV-01A-12D-A34A-08	10171639	50085216	105185344	38	3103											
ATRX	546	broad.mit.edu	37	X	76938029	76938029	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DH-A7UV-01A-12D-A34A-08	TCGA-DH-A7UV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f6d5d9d-1d5b-47c6-b4ca-276a6655f808	f6cf33cc-61be-4409-bf15-16edfe3e19bc	g.chrX:76938029delG	ENST00000373344.5	-	9	2933	c.2719delC	c.(2719-2721)cgafs	p.R907fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.R869fs	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	907					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)|p.R907*(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)	TTAGGAAGTCGATCTCTTAAT	0.418			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						21	136	---	---	---	---						-	76938029	G	-	76938029	7	5	69	1	0	1	0	1	0	0	0	0	1206	1066	37	0	4867	0	ATRX	23	76938029	Frame_Shift_Del	DEL	G	TCGA-DH-A7UV-01A-12D-A34A-08	26852813	76938029	78332531	39	3104											
ATRX	546	broad.mit.edu	37	X	76939607	76939607	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DH-A7UV-01A-12D-A34A-08	TCGA-DH-A7UV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f6d5d9d-1d5b-47c6-b4ca-276a6655f808	f6cf33cc-61be-4409-bf15-16edfe3e19bc	g.chrX:76939607delA	ENST00000373344.5	-	9	1355	c.1141delT	c.(1141-1143)tcafs	p.S381fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.S343fs	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	381					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)	CTGATTTCTGAATTATCTGTT	0.363			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						125	44	---	---	---	---						-	76939607	A	-	76939607	7	5	69	1	0	1	0	1	0	0	0	0	1206	246	9	0	6445	0	ATRX	23	76939607	Frame_Shift_Del	DEL	A	TCGA-DH-A7UV-01A-12D-A34A-08	1578	76939607	78330953	40	3105											
FLG	2312	broad.mit.edu	37	1	152278733	152278733	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chr1:152278733G>T	ENST00000368799.1	-	3	8664	c.8629C>A	c.(8629-8631)Caa>Aaa	p.Q2877K	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2877	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCCTCTGATTGTCCCTGGACT	0.577									Ichthyosis				63	263					1.07576e-66	1.22415e-66	0.870114	1	0	T	152278733	G	T	152278733	3	4	70	1	0	0	0	0	1	0	0	0	5955	1386	48	5	3560	5	FLG	1	152278733	Missense_Mutation	SNP	G	TCGA-DU-5847-01A-11D-1705-08		152278733	96971888	1	3106											
CRNN	49860	broad.mit.edu	37	1	152382287	152382287	+	Missense_Mutation	SNP	C	C	T	rs150002541	by1000genomes	TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chr1:152382287C>T	ENST00000271835.3	-	3	1333	c.1271G>A	c.(1270-1272)cGc>cAc	p.R424H	RP1-91G5.3_ENST00000411804.1_RNA	NM_016190.2	NP_057274.1	Q9UBG3	CRNN_HUMAN	cornulin	424					cell-cell adhesion|response to heat	cytoplasm|membrane	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGTCACACAGCGCCTTGGGTG	0.602													17	37					0	0	0.500413	0	0	T	152382287	C	T	152382287	3	4	70	1	0	0	0	0	1	0	0	0	3915	768	27	1	220	1	CRNN	1	152382287	Missense_Mutation	SNP	C	TCGA-DU-5847-01A-11D-1705-08	103554	152382287	96868334	2	3107											
C4BPB	725	broad.mit.edu	37	1	207265091	207265091	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chr1:207265091T>A	ENST00000243611.5	+	3	629	c.335T>A	c.(334-336)aTc>aAc	p.I112N	C4BPB_ENST00000367078.3_Missense_Mutation_p.I112N|C4BPB_ENST00000451804.2_Missense_Mutation_p.I102N|C4BPB_ENST00000367076.3_Missense_Mutation_p.I111N|C4BPB_ENST00000391923.1_Missense_Mutation_p.I112N	NM_000716.3	NP_000707.1	P20851	C4BPB_HUMAN	complement component 4 binding protein, beta	112	Sushi 2.				blood coagulation|complement activation, classical pathway|innate immune response	extracellular region				breast(2)|lung(1)|ovary(1)	4						GACCACTACATCCTCAAGGGC	0.493													7	57					0	0	0.27861	0	0	A	207265091	T	A	207265091	3	1	70	1	0	0	0	0	1	0	0	0	2265	1435	50	4	345	4	C4BPB	1	207265091	Missense_Mutation	SNP	T	TCGA-DU-5847-01A-11D-1705-08	54882804	207265091	41985530	3	3108											
PARP1	142	broad.mit.edu	37	1	226553737	226553737	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chr1:226553737G>C	ENST00000366794.5	-	18	2566	c.2423C>G	c.(2422-2424)tCt>tGt	p.S808C	PARP1_ENST00000490921.1_5'UTR	NM_001618.3	NP_001609.2	P09874	PARP1_HUMAN	poly (ADP-ribose) polymerase 1	808	PARP catalytic.				cellular response to insulin stimulus|protein ADP-ribosylation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nuclear envelope|nucleolus|transcription factor complex	DNA binding|identical protein binding|NAD+ ADP-ribosyltransferase activity|protein N-terminus binding|transcription factor binding|zinc ion binding			breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	44	Breast(184;0.133)			GBM - Glioblastoma multiforme(131;0.0531)		GGCTTCTTCAGAATCTCTGTC	0.448								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA					3	45					0	0	0.115264	0	0	C	226553737	G	C	226553737	3	2	70	1	0	0	0	0	1	0	0	0	11501	942	33	4	645	4	PARP1	1	226553737	Missense_Mutation	SNP	G	TCGA-DU-5847-01A-11D-1705-08	19288646	226553737	22696884	4	3109											
OBSCN	84033	broad.mit.edu	37	1	228486408	228486408	+	Silent	SNP	C	C	T			TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chr1:228486408C>T	ENST00000570156.2	+	49	13274	c.13200C>T	c.(13198-13200)ctC>ctT	p.L4400L	RP5-1139B12.4_ENST00000602778.1_RNA|OBSCN_ENST00000422127.1_Intron|OBSCN_ENST00000366707.4_Silent_p.L1090L|OBSCN_ENST00000359599.6_3'UTR|OBSCN_ENST00000284548.11_Intron|OBSCN_ENST00000366709.4_Intron	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	3443	Ig-like 45.|Poly-Leu.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CGGCCACGCTCACTGTCAGGG	0.547													24	28					0	0	0.639603	0	0	T	228486408	C	T	228486408	2	4	70	1	0	0	0	0	0	0	0	1	10860	841	29	2		2	OBSCN	1	228486408	Silent	SNP	C	TCGA-DU-5847-01A-11D-1705-08	1932671	228486408	20764213	5	3110											
APOB	338	broad.mit.edu	37	2	21226162	21226162	+	Silent	SNP	C	C	T			TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chr2:21226162C>T	ENST00000233242.1	-	29	12259	c.12132G>A	c.(12130-12132)agG>agA	p.R4044R		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	4044					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	ATTCCCGGACCCTCAACTCAG	0.393													105	232					0	0	0.870114	0	0	T	21226162	C	T	21226162	2	4	70	1	0	0	0	0	0	0	0	1	782	622	22	2		2	APOB	2	21226162	Silent	SNP	C	TCGA-DU-5847-01A-11D-1705-08		21226162	221973211	6	3111											
GPR75	10936	broad.mit.edu	37	2	54081969	54081969	+	Translation_Start_Site	SNP	A	A	C			TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chr2:54081969A>C	ENST00000394705.2	-	0	195				ASB3_ENST00000406625.2_Intron|GPR75-ASB3_ENST00000352846.3_Intron|ASB3_ENST00000498475.2_Intron	NM_006794.3	NP_006785.1	O95800	GPR75_HUMAN	G protein-coupled receptor 75							integral to plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			ACAGATGAGCAATATGTGACA	0.438													11	20					0	0	0.435327	0	0	C	54081969	A	C	54081969	1	2	70	1	0	0	0	0	0	0	0	0	6748	145	5	5		5	GPR75	2	54081969	Translation_Start_Site	SNP	A	TCGA-DU-5847-01A-11D-1705-08	32855807	54081969	189117404	7	3112											
POTEF	728378	broad.mit.edu	37	2	130832726	130832726	+	Silent	SNP	G	G	A			TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chr2:130832726G>A	ENST00000357462.5	-	15	2412	c.2319C>T	c.(2317-2319)caC>caT	p.H773H	POTEF_ENST00000409914.2_Silent_p.H773H			A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	773	Actin-like.					cell cortex	ATP binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						TGATGATGCCGTGTTCCATGG	0.582													37	89					0	0	0.834066	0	0	A	130832726	G	A	130832726	2	1	70	1	0	0	0	0	0	0	0	1	12312	1136	40	1		1	POTEF	2	130832726	Silent	SNP	G	TCGA-DU-5847-01A-11D-1705-08	76750757	130832726	112366647	8	3113											
MFSD6	54842	broad.mit.edu	37	2	191301884	191301884	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chr2:191301884G>A	ENST00000392328.1	+	3	1453	c.1129G>A	c.(1129-1131)Gtt>Att	p.V377I	MFSD6_ENST00000281416.7_Missense_Mutation_p.V377I	NM_017694.3	NP_060164.3	Q6ZSS7	MFSD6_HUMAN	major facilitator superfamily domain containing 6	377					transmembrane transport	integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(3)|stomach(1)	23						CGTCTTCGGCGTTCTCATGAC	0.512													19	29					0	0	0.539581	0	0	A	191301884	G	A	191301884	3	1	70	1	0	0	0	0	1	0	0	0	9585	1145	40	1	1131	1	MFSD6	2	191301884	Missense_Mutation	SNP	G	TCGA-DU-5847-01A-11D-1705-08	60469158	191301884	51897489	9	3114											
SLC25A38	54977	broad.mit.edu	37	3	39431997	39431997	+	Splice_Site	SNP	C	C	T			TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chr3:39431997C>T	ENST00000273158.4	+	3	652	c.275C>T	c.(274-276)cCt>cTt	p.P92L		NM_017875.2	NP_060345.2	Q96DW6	S2538_HUMAN	solute carrier family 25, member 38	92					erythrocyte differentiation|heme biosynthetic process|transport	integral to membrane|mitochondrial inner membrane				breast(1)|endometrium(1)|large_intestine(1)|lung(6)|skin(1)|stomach(1)	11				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		GGGATGTCCCCTGTAAGCTGC	0.478													13	53					0	0	0.411799	0	0	T	39431997	C	T	39431997	5	4	70	1	0	0	0	0	0	0	1	0	14557	695	24	2	285	2	SLC25A38	3	39431997	Splice_Site	SNP	C	TCGA-DU-5847-01A-11D-1705-08		39431997	158590433	10	3115											
KDR	3791	broad.mit.edu	37	4	55956204	55956204	+	Silent	SNP	C	C	T	rs147630437		TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chr4:55956204C>T	ENST00000263923.4	-	23	3406	c.3111G>A	c.(3109-3111)tcG>tcA	p.S1037S	RP11-530I17.1_ENST00000511222.1_RNA	NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	1037	Protein kinase.				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	CGTTCTTCTCCGATAAGAGGA	0.428			Mis		"NSCLC, angiosarcoma"					TSP Lung(20;0.16)			27	49					0	0	0.693898	0	0	T	55956204	C	T	55956204	2	4	70	1	0	0	0	0	0	0	0	1	8182	639	23	1		1	KDR	4	55956204	Silent	SNP	C	TCGA-DU-5847-01A-11D-1705-08		55956204	135198072	11	3116											
SEC31A	22872	broad.mit.edu	37	4	83763471	83763471	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chr4:83763471G>C	ENST00000432794.1	-	22	2953	c.2790C>G	c.(2788-2790)caC>caG	p.H930Q	SEC31A_ENST00000448323.1_Missense_Mutation_p.H930Q|SEC31A_ENST00000264405.5_Missense_Mutation_p.H694Q|SEC31A_ENST00000508502.1_Missense_Mutation_p.H930Q|SEC31A_ENST00000513858.1_Intron|SEC31A_ENST00000326950.5_Missense_Mutation_p.H891Q|SEC31A_ENST00000509142.1_Intron|SEC31A_ENST00000505984.1_Missense_Mutation_p.H891Q|SEC31A_ENST00000348405.4_Missense_Mutation_p.H891Q|SEC31A_ENST00000395310.2_Missense_Mutation_p.H930Q|SEC31A_ENST00000443462.2_Missense_Mutation_p.H925Q|SEC31A_ENST00000311785.7_Intron|SEC31A_ENST00000355196.2_Missense_Mutation_p.H930Q|SEC31A_ENST00000505472.1_Missense_Mutation_p.H961Q|SEC31A_ENST00000500777.2_Intron			O94979	SC31A_HUMAN	SEC31 homolog A (S. cerevisiae)	930	Interaction with PDCD6.|Pro-rich.				COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|response to calcium ion	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	calcium-dependent protein binding		SEC31A/ALK(3)|SEC31A/JAK2(4)	breast(1)	1		Hepatocellular(203;0.114)				AAGAGGCCTGGTGCTGTGCTG	0.552													10	16					0	0	0.335167	0	0	C	83763471	G	C	83763471	3	2	70	1	0	0	0	0	1	0	0	0	14052	1252	44	5	896	5	SEC31A	4	83763471	Missense_Mutation	SNP	G	TCGA-DU-5847-01A-11D-1705-08	27807267	83763471	107390805	12	3117											
RXFP1	59350	broad.mit.edu	37	4	159526262	159526262	+	Silent	SNP	C	C	T			TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chr4:159526262C>T	ENST00000307765.5	+	5	686	c.435C>T	c.(433-435)tgC>tgT	p.C145C	RXFP1_ENST00000448688.2_Silent_p.C64C|RXFP1_ENST00000343542.5_Silent_p.C145C|RXFP1_ENST00000423548.1_Silent_p.C145C|RXFP1_ENST00000470033.1_Silent_p.C112C|RXFP1_ENST00000460056.2_Silent_p.C64C	NM_001253727.1|NM_001253728.1|NM_001253730.1|NM_001253732.1|NM_001253733.1|NM_021634.3	NP_001240656.1|NP_001240657.1|NP_001240659.1|NP_001240661.1|NP_001240662.1|NP_067647.2	Q9HBX9	RXFP1_HUMAN	relaxin/insulin-like family peptide receptor 1	145						integral to membrane|plasma membrane	G-protein coupled receptor activity|metal ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10)	49	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0219)		CTCCTGATTGCTTCAAGAATT	0.299													10	24					0	0	0.38729	0	0	T	159526262	C	T	159526262	2	4	70	1	0	0	0	0	0	0	0	1	13811	805	28	2		2	RXFP1	4	159526262	Silent	SNP	C	TCGA-DU-5847-01A-11D-1705-08	75762791	159526262	31628014	13	3118											
ZFP42	132625	broad.mit.edu	37	4	188924355	188924355	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chr4:188924355C>T	ENST00000326866.4	+	4	802	c.394C>T	c.(394-396)Cca>Tca	p.P132S	ZFP42_ENST00000509524.1_Missense_Mutation_p.P132S	NM_174900.3	NP_777560.2	Q96MM3	ZFP42_HUMAN	ZFP42 zinc finger protein	132					female gonad development|male gonad development|meiosis	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)		GAAAGAGCTTCCACAAAAGAT	0.418													46	76					0	0	0.864702	0	0	T	188924355	C	T	188924355	3	4	70	1	0	0	0	0	1	0	0	0	17708	855	30	2	396	2	ZFP42	4	188924355	Missense_Mutation	SNP	C	TCGA-DU-5847-01A-11D-1705-08	29398093	188924355	2229921	14	3119											
PCDHB13	56123	broad.mit.edu	37	5	140594885	140594885	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chr5:140594885C>T	ENST00000341948.4	+	1	1377	c.1190C>T	c.(1189-1191)gCg>gTg	p.A397V		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN		397	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTGAAATCCGCGGAAAACTTT	0.453													25	52					0	0	0.654019	0	0	T	140594885	C	T	140594885	3	4	70	1	0	0	0	0	1	0	0	0	11585	768	27	1	1192	1	PCDHB13	5	140594885	Missense_Mutation	SNP	C	TCGA-DU-5847-01A-11D-1705-08		140594885	40320375	15	3120											
GRM6	2916	broad.mit.edu	37	5	178418950	178418950	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chr5:178418950C>A	ENST00000231188.5	-	2	817	c.639G>T	c.(637-639)tgG>tgT	p.W213C	GRM6_ENST00000517717.1_Missense_Mutation_p.W213C	NM_000843.3	NP_000834.2	O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	213					detection of visible light|visual perception	integral to plasma membrane				NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		ACACATAGTTCCATCCCAGTG	0.622													9	21					2.74318e-10	3.0175e-10	0.335167	1	0	A	178418950	C	A	178418950	3	1	70	1	0	0	0	0	1	0	0	0	6842	856	30	5	2030	5	GRM6	5	178418950	Missense_Mutation	SNP	C	TCGA-DU-5847-01A-11D-1705-08	37824065	178418950	2496310	16	3121	11	2									
GRM6	2916	broad.mit.edu	37	5	178418951	178418951	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chr5:178418951C>T	ENST00000231188.5	-	2	816	c.638G>A	c.(637-639)tGg>tAg	p.W213*	GRM6_ENST00000517717.1_Nonsense_Mutation_p.W213*	NM_000843.3	NP_000834.2	O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	213					detection of visible light|visual perception	integral to plasma membrane				NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		CACATAGTTCCATCCCAGTGC	0.627													9	20					0	0	0.335167	0	0	T	178418951	C	T	178418951	4	4	70	1	0	0	0	0	0	1	0	0	6842	595	21	2	2031	2	GRM6	5	178418951	Nonsense_Mutation	SNP	C	TCGA-DU-5847-01A-11D-1705-08	1	178418951	2496309	17	3122	11	2									
HIVEP1	3096	broad.mit.edu	37	6	12122495	12122495	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chr6:12122495G>C	ENST00000379388.2	+	4	2799	c.2467G>C	c.(2467-2469)Gtg>Ctg	p.V823L		NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	823					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				ATCAAAGCAAGTGTTTCTTCT	0.403													80	34					0	0	0.870114	0	0	C	12122495	G	C	12122495	3	2	70	1	0	0	0	0	1	0	0	0	7227	1029	36	4	2477	4	HIVEP1	6	12122495	Missense_Mutation	SNP	G	TCGA-DU-5847-01A-11D-1705-08		12122495	158992572	18	3123											
PRDM13	59336	broad.mit.edu	37	6	100062566	100062566	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chr6:100062566C>G	ENST00000369215.4	+	4	2360	c.2055C>G	c.(2053-2055)gaC>gaG	p.D685E		NM_021620.3	NP_067633.2	Q9H4Q3	PRD13_HUMAN	PR domain containing 13	685					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(9)|prostate(1)	17		all_cancers(76;1.64e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0128)|Colorectal(196;0.069)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.0598)		ACGACAGTGACGTGGACGTCT	0.701													21	11					0	0	0.624587	0	0	G	100062566	C	G	100062566	3	3	70	1	0	0	0	0	1	0	0	0	12506	535	19	5	2069	5	PRDM13	6	100062566	Missense_Mutation	SNP	C	TCGA-DU-5847-01A-11D-1705-08	87940071	100062566	71052501	19	3124											
COG5	10466	broad.mit.edu	37	7	107167729	107167729	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chr7:107167729C>T	ENST00000393603.2	-	6	855	c.584G>A	c.(583-585)gGg>gAg	p.G195E	COG5_ENST00000475638.2_5'UTR|COG5_ENST00000297135.3_Missense_Mutation_p.G195E|COG5_ENST00000347053.3_Missense_Mutation_p.G195E	NM_001161520.1	NP_001154992.1	Q9UP83	COG5_HUMAN	component of oligomeric golgi complex 5	195					intra-Golgi vesicle-mediated transport|protein transport	cytosol|Golgi membrane|Golgi transport complex|nucleus	protein binding			breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|skin(4)|stomach(1)	40						TCTACTTCCCCCTTGCAGTTG	0.338													16	15					0	0	0.539581	0	0	T	107167729	C	T	107167729	3	4	70	1	0	0	0	0	1	0	0	0	3684	623	22	2	2070	2	COG5	7	107167729	Missense_Mutation	SNP	C	TCGA-DU-5847-01A-11D-1705-08		107167729	51970934	20	3125											
PTEN	5728	broad.mit.edu	37	10	89720803	89720804	+	Frame_Shift_Ins	INS	-	-	A	rs146650273		TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chr10:89720803_89720804insA	ENST00000371953.3	+	8	2311_2312	c.954_955insA	c.(955-957)actfs	p.T319fs	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	319	C2 tensin-type.		Missing (in glioma; reduced tumor suppressor activity; fails to inactivate AKT/PKB).		activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.L318fs*2(27)|p.T319fs*1(24)|p.T319fs*6(6)|p.R55fs*1(5)|p.V317fs*3(4)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.T319del(2)|p.V317fs*6(2)|p.T319_K332del(1)|p.G165_*404del(1)|p.L318fs*3(1)|p.L316fs*1(1)|p.T319fs*4(1)|p.W274_F341del(1)|p.V317_K322del(1)|p.T318fs*2(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		ATCTAGTACTTACTTTAACAAA	0.327		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			57	23	---	---	---	---						A	89720804	-	A	89720803	7	5	70	1	0	1	1	0	0	0	0	0	12787	1741	61	0	984	0	PTEN	10	89720803	Frame_Shift_Ins	INS	-	TCGA-DU-5847-01A-11D-1705-08		89720803	45813944	21	3126											
ANO9	338440	broad.mit.edu	37	11	418583	418583	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chr11:418583C>T	ENST00000332826.6	-	23	2221	c.2137G>A	c.(2137-2139)Gcc>Acc	p.A713T		NM_001012302.2	NP_001012302	A1A5B4	ANO9_HUMAN	anoctamin 9	713						chloride channel complex	chloride channel activity			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|lung(5)|ovary(1)|prostate(4)|skin(4)	21						ATGCACAAGGCCACGTGCTAG	0.627													23	36					0	0	0.608945	0	0	T	418583	C	T	418583	3	4	70	1	0	0	0	0	1	0	0	0	698	739	26	2	215	2	ANO9	11	418583	Missense_Mutation	SNP	C	TCGA-DU-5847-01A-11D-1705-08		418583	134587933	22	3127											
OR2D2	120776	broad.mit.edu	37	11	6913294	6913294	+	Silent	SNP	T	T	C			TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chr11:6913294T>C	ENST00000299459.2	-	1	536	c.438A>G	c.(436-438)acA>acG	p.T146T		NM_003700.1	NP_003691.1	Q9H210	OR2D2_HUMAN	olfactory receptor, family 2, subfamily D, member 2	146					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	18		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		TCCATGATCCTGTTGCCAGCT	0.493													3	68					0	0	0.115264	0	0	C	6913294	T	C	6913294	2	2	70	1	0	0	0	0	0	0	0	1	11042	1567	55	3		3	OR2D2	11	6913294	Silent	SNP	T	TCGA-DU-5847-01A-11D-1705-08	6494711	6913294	128093222	23	3128											
NCKAP1L	3071	broad.mit.edu	37	12	54902315	54902315	+	Splice_Site	SNP	G	G	A			TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chr12:54902315G>A	ENST00000293373.6	+	5	585	c.506G>A	c.(505-507)gGt>gAt	p.G169D	NCKAP1L_ENST00000545638.2_Splice_Site_p.G119D	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	169					actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						CATGGGCATGGGTGAGTTAAG	0.423													67	134					0	0	0.870114	0	0	A	54902315	G	A	54902315	5	1	70	1	0	0	0	0	0	0	1	0	10269	1246	43	2	524	2	NCKAP1L	12	54902315	Splice_Site	SNP	G	TCGA-DU-5847-01A-11D-1705-08		54902315	78949580	24	3129											
RB1	5925	broad.mit.edu	37	13	48953728	48953728	+	Splice_Site	SNP	A	A	G			TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chr13:48953728A>G	ENST00000267163.4	+	14	1470		c.e14-1			NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1						androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.0?(15)|p.?(10)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GTTTGTTTGTAGCGATACAAA	0.333		6	"D, Mis, N, F, S"		"retinoblastoma, sarcoma, breast, small cell lung"	"retinoblastoma, sarcoma, breast, small cell lung"			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			9	7					0	0	0.335167	0	0	G	48953728	A	G	48953728	5	3	70	1	0	0	0	0	0	0	1	0	13150	434	15	3	1385	3	RB1	13	48953728	Splice_Site	SNP	A	TCGA-DU-5847-01A-11D-1705-08		48953728	66216150	25	3130											
GMPR2	51292	broad.mit.edu	37	14	24707610	24707610	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chr14:24707610A>T	ENST00000557854.1	+	8	1187	c.910A>T	c.(910-912)Agg>Tgg	p.R304W	GMPR2_ENST00000399440.2_Splice_Site_p.R286*|GMPR2_ENST00000420554.2_Splice_Site_p.R304*|GMPR2_ENST00000559104.1_Splice_Site_p.R271*|GMPR2_ENST00000348719.7_Missense_Mutation_p.R286W|GMPR2_ENST00000559836.1_Splice_Site_p.R286*|GMPR2_ENST00000355299.4_Splice_Site_p.R286*|GMPR2_ENST00000559910.1_Splice_Site_p.R253*|GMPR2_ENST00000456667.3_Splice_Site_p.R258*	NM_001283022.1	NP_001269951.1	Q9P2T1	GMPR2_HUMAN	guanosine monophosphate reductase 2	286					nucleotide metabolic process|purine base metabolic process|purine-containing compound salvage	cytosol	GMP reductase activity|metal ion binding			large_intestine(4)|lung(3)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	12				GBM - Glioblastoma multiforme(265;0.0181)		GGCTGAGTACAGGTATGTGTG	0.512													3	40					0	0	0.150653	0	0	T	24707610	A	T	24707610	3	4	70	1	0	0	0	0	1	0	0	0	6539	202	7	5	940	5	GMPR2	14	24707610	Missense_Mutation	SNP	A	TCGA-DU-5847-01A-11D-1705-08		24707610	82641930	26	3131											
MAGEL2	54551	broad.mit.edu	37	15	23889301	23889301	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chr15:23889301C>T	ENST00000532292.1	-	1	1874	c.1780G>A	c.(1780-1782)Gtc>Atc	p.V594I		NM_019066.4	NP_061939.3			MAGE-like 2											breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		AACCTCAGGACAAGCATCTTG	0.522													19	34					0	0	0.557998	0	0	T	23889301	C	T	23889301	3	4	70	1	0	0	0	0	1	0	0	0	9239	478	17	2	164	2	MAGEL2	15	23889301	Missense_Mutation	SNP	C	TCGA-DU-5847-01A-11D-1705-08		23889301	78642091	27	3132											
MYO5A	4644	broad.mit.edu	37	15	52622645	52622645	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chr15:52622645C>T	ENST00000399231.3	-	34	4628	c.4385G>A	c.(4384-4386)cGa>cAa	p.R1462Q	MYO5A_ENST00000553916.1_Missense_Mutation_p.R1460Q|MYO5A_ENST00000358212.6_Missense_Mutation_p.R1487Q|MYO5A_ENST00000399233.2_Missense_Mutation_p.R1459Q|MYO5A_ENST00000356338.6_Missense_Mutation_p.R1435Q	NM_000259.3	NP_000250	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)	1462					actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		GTTGACTGGTCGGATGGGTTC	0.418													56	96					0	0	0.870114	0	0	T	52622645	C	T	52622645	3	4	70	1	0	0	0	0	1	0	0	0	10126	884	31	1	1214	1	MYO5A	15	52622645	Missense_Mutation	SNP	C	TCGA-DU-5847-01A-11D-1705-08	28733344	52622645	49908747	28	3133											
OR3A2	4995	broad.mit.edu	37	17	3181629	3181629	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chr17:3181629T>A	ENST00000408891.2	-	1	639	c.601A>T	c.(601-603)Acc>Tcc	p.T201S		NM_002551.3	NP_002542.3	P47893	OR3A2_HUMAN	olfactory receptor, family 3, subfamily A, member 2	201					sensory perception of smell	integral to plasma membrane	olfactory receptor activity			ovary(1)	1						TTGAGTTGGGTGCTGGAGCAG	0.552													29	60					0	0	0.760397	0	0	A	3181629	T	A	3181629	3	1	70	1	0	0	0	0	1	0	0	0	11086	1696	59	5	368	5	OR3A2	17	3181629	Missense_Mutation	SNP	T	TCGA-DU-5847-01A-11D-1705-08		3181629	78013581	29	3134											
LGALS9C	654346	broad.mit.edu	37	17	18396173	18396173	+	Splice_Site	SNP	G	G	A			TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chr17:18396173G>A	ENST00000328114.6	+	10	1005	c.924G>A	c.(922-924)tcG>tcA	p.S308S	LGALS9C_ENST00000581545.1_Intron|LGALS9C_ENST00000412421.2_Splice_Site_p.S220S|LGALS9C_ENST00000583322.1_Splice_Site_p.S275S|LGALS9C_ENST00000584941.1_Intron	NM_001040078.2	NP_001035167.2	Q6DKI2	LEG9C_HUMAN	lectin, galactoside-binding, soluble, 9C	308	Galectin 2.						sugar binding			NS(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(2)	7						AGAGCTTCTCGGTAAGGCGCC	0.592													8	19					0	0	0.457914	0	0	A	18396173	G	A	18396173	5	1	70	1	0	0	0	0	0	0	1	0	8790	1130	39	1	962	1	LGALS9C	17	18396173	Splice_Site	SNP	G	TCGA-DU-5847-01A-11D-1705-08	15214544	18396173	62799037	30	3135											
NF1	4763	broad.mit.edu	37	17	29497016	29497016	+	Splice_Site	SNP	G	G	A			TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chr17:29497016G>A	ENST00000358273.4	+	5	969		c.e5+1		NF1_ENST00000431387.4_Splice_Site|NF1_ENST00000356175.3_Splice_Site	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1						actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		CTCCTGAAGGGTAAGTTTAAA	0.289			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			14	34					0	0	0.435327	0	0	A	29497016	G	A	29497016	5	1	70	1	0	0	0	0	0	0	1	0	10403	1275	44	2	605	2	NF1	17	29497016	Splice_Site	SNP	G	TCGA-DU-5847-01A-11D-1705-08	11100843	29497016	51698194	31	3136											
NF1	4763	broad.mit.edu	37	17	29677227	29677227	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chr17:29677227C>T	ENST00000358273.4	+	50	7731	c.7348C>T	c.(7348-7350)Cga>Tga	p.R2450*	NF1_ENST00000356175.3_Nonsense_Mutation_p.R2429*|NF1_ENST00000417592.2_Nonsense_Mutation_p.R163*|NF1_ENST00000444181.2_Nonsense_Mutation_p.R243*	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	2450					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.R2450*(6)|p.?(3)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TGAAGAAGTTCGAAGTCGCTG	0.363			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			39	72					0	0	0.819951	0	0	T	29677227	C	T	29677227	4	4	70	1	0	0	0	0	0	1	0	0	10403	876	31	1	7607	1	NF1	17	29677227	Nonsense_Mutation	SNP	C	TCGA-DU-5847-01A-11D-1705-08	180211	29677227	51517983	32	3137											
SLC16A5	9121	broad.mit.edu	37	17	73096729	73096729	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chr17:73096729C>G	ENST00000450736.2	+	4	1386	c.971C>G	c.(970-972)gCa>gGa	p.A324G	SLC16A5_ENST00000538213.2_Missense_Mutation_p.A364G|SLC16A5_ENST00000329783.4_Missense_Mutation_p.A324G|SLC16A5_ENST00000580123.1_Missense_Mutation_p.A324G			O15375	MOT6_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 5	324					organic anion transport	integral to plasma membrane|membrane fraction	secondary active monocarboxylate transmembrane transporter activity|symporter activity			central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	all_lung(278;0.226)		LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)		Pyruvic acid(DB00119)	GTGTGTGCGGCATCAGGTGAC	0.617													284	496					0	0	0.870114	0	0	G	73096729	C	G	73096729	3	3	70	1	0	0	0	0	1	0	0	0	14466	710	25	5	981	5	SLC16A5	17	73096729	Missense_Mutation	SNP	C	TCGA-DU-5847-01A-11D-1705-08	43419502	73096729	8098481	33	3138											
DSG2	1829	broad.mit.edu	37	18	29099849	29099849	+	Silent	SNP	C	C	T			TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chr18:29099849C>T	ENST00000261590.8	+	3	374	c.165C>T	c.(163-165)ccC>ccT	p.P55P	DSG2_ENST00000585206.1_Silent_p.P55P	NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	desmoglein 2	55	Cadherin 1.				cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			TCACCGCCCCCGTGGCTCTTC	0.443													31	40					0	0	0.750413	0	0	T	29099849	C	T	29099849	2	4	70	1	0	0	0	0	0	0	0	1	4803	639	23	1		1	DSG2	18	29099849	Silent	SNP	C	TCGA-DU-5847-01A-11D-1705-08		29099849	48977399	34	3139											
CCDC159	126075	broad.mit.edu	37	19	11462650	11462650	+	Splice_Site	SNP	G	G	A			TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chr19:11462650G>A	ENST00000588790.1	+	8	937		c.e8+1		CCDC159_ENST00000458408.1_Splice_Site			P0C7I6	CC159_HUMAN	coiled-coil domain containing 159											endometrium(1)|large_intestine(1)|lung(2)|ovary(1)	5						CAGAAGCTCCGTGAGTTCCTG	0.612													8	11					0	0	0.307466	0	0	A	11462650	G	A	11462650	5	1	70	1	0	0	0	0	0	0	1	0	2810	1159	40	1	513	1	CCDC159	19	11462650	Splice_Site	SNP	G	TCGA-DU-5847-01A-11D-1705-08		11462650	47666333	35	3140											
ZNF429	353088	broad.mit.edu	37	19	21720518	21720518	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chr19:21720518C>A	ENST00000358491.4	+	4	1871	c.1663C>A	c.(1663-1665)Cat>Aat	p.H555N	ZNF429_ENST00000597078.1_Intron	NM_001001415.2	NP_001001415.2	Q86V71	ZN429_HUMAN	zinc finger protein 429	555					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(13)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	34						ACTTACTCAACATAAGAAAAT	0.353													14	42					1.3612e-06	1.47278e-06	0.479597	1	0	A	21720518	C	A	21720518	3	1	70	1	0	0	0	0	1	0	0	0	17959	478	17	5	1677	5	ZNF429	19	21720518	Missense_Mutation	SNP	C	TCGA-DU-5847-01A-11D-1705-08	10257868	21720518	37408465	36	3141											
ZNF536	9745	broad.mit.edu	37	19	30935048	30935048	+	Silent	SNP	C	C	T			TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chr19:30935048C>T	ENST00000355537.3	+	2	726	c.579C>T	c.(577-579)cgC>cgT	p.R193R		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	193					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					GGCGTGTGCGCGAGGAGAACC	0.692													4	6					0	0	0.150653	0	0	T	30935048	C	T	30935048	2	4	70	1	0	0	0	0	0	0	0	1	18031	755	27	1		1	ZNF536	19	30935048	Silent	SNP	C	TCGA-DU-5847-01A-11D-1705-08	9214530	30935048	28193935	37	3142											
SPTBN4	57731	broad.mit.edu	37	19	40998962	40998962	+	Splice_Site	SNP	G	G	A			TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chr19:40998962G>A	ENST00000352632.3	+	5	673		c.e5+1		SPTBN4_ENST00000598249.1_Splice_Site|SPTBN4_ENST00000338932.3_Splice_Site|SPTBN4_ENST00000595535.1_Splice_Site|SPTBN4_ENST00000344104.3_Splice_Site			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4						actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			AGACAGCTGGGTAAGCACCCC	0.522													5	18					0	0	0.217242	0	0	A	40998962	G	A	40998962	5	1	70	1	0	0	0	0	0	0	1	0	15177	1275	44	2	602	2	SPTBN4	19	40998962	Splice_Site	SNP	G	TCGA-DU-5847-01A-11D-1705-08	10063914	40998962	18130021	38	3143											
UCKL1	54963	broad.mit.edu	37	20	62577859	62577859	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chr20:62577859C>T	ENST00000369908.5	-	2	505	c.206G>A	c.(205-207)cGg>cAg	p.R69Q	UCKL1_ENST00000358711.3_Missense_Mutation_p.R84Q|UCKL1_ENST00000354216.6_Missense_Mutation_p.R84Q|UCKL1_ENST00000492660.1_5'UTR|UCKL1_ENST00000369892.3_Missense_Mutation_p.R84Q	NM_001193379.1	NP_001180308.1	Q9NWZ5	UCKL1_HUMAN	uridine-cytidine kinase 1-like 1	84					interspecies interaction between organisms	endoplasmic reticulum|nucleus	ATP binding|phosphotransferase activity, alcohol group as acceptor|protein binding|uridine kinase activity			endometrium(3)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	8	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					CCAGGGCGGCCGCCCGGCGGT	0.677													17	14					0	0	0.520397	0	0	T	62577859	C	T	62577859	3	4	70	1	0	0	0	0	1	0	0	0	16985	652	23	1	1451	1	UCKL1	20	62577859	Missense_Mutation	SNP	C	TCGA-DU-5847-01A-11D-1705-08		62577859	447661	39	3144											
CXorf22	170063	broad.mit.edu	37	X	35985795	35985795	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chrX:35985795C>T	ENST00000297866.5	+	10	1726	c.1660C>T	c.(1660-1662)Cgc>Tgc	p.R554C		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	554										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						CTTGGCAAAACGCAAGAATTA	0.393													16	51					0	0	0.520397	0	0	T	35985795	C	T	35985795	3	4	70	1	0	0	0	0	1	0	0	0	4125	536	19	1	1698	1	CXorf22	23	35985795	Missense_Mutation	SNP	C	TCGA-DU-5847-01A-11D-1705-08		35985795	119284765	40	3145											
APEX2	27301	broad.mit.edu	37	X	55033526	55033526	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chrX:55033526A>T	ENST00000374987.3	+	6	1281	c.1215A>T	c.(1213-1215)caA>caT	p.Q405H		NM_014481.2	NP_055296.2	Q9UBZ4	APEX2_HUMAN	APEX nuclease (apurinic/apyrimidinic endonuclease) 2	405					cell cycle|DNA recombination|DNA repair	nucleus	DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|endonuclease activity|exonuclease activity|zinc ion binding			breast(1)|endometrium(8)|large_intestine(4)|lung(6)|prostate(1)|urinary_tract(1)	21						GCTGTCCCCAAGCCTCTCCTG	0.587								Other BER factors					9	18					0	0	0.307466	0	0	T	55033526	A	T	55033526	3	4	70	1	0	0	0	0	1	0	0	0	766	69	3	5	1237	5	APEX2	23	55033526	Missense_Mutation	SNP	A	TCGA-DU-5847-01A-11D-1705-08	19047731	55033526	100237034	41	3146											
OPHN1	4983	broad.mit.edu	37	X	67283790	67283790	+	Silent	SNP	G	G	T			TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chrX:67283790G>T	ENST00000355520.5	-	21	2705	c.2064C>A	c.(2062-2064)gcC>gcA	p.A688A	OPHN1_ENST00000484842.1_5'UTR|OPHN1_ENST00000540071.1_Intron	NM_002547.2	NP_002538.1	O60890	OPHN1_HUMAN	oligophrenin 1	688	Pro-rich.				axon guidance|endocytosis|filopodium assembly|small GTPase mediated signal transduction|substrate-dependent cell migration, cell extension	axon|cell junction|cytosol|dendritic spine|synapse	cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|skin(2)	31						GTCCATTGGTGGCCTTTGGGG	0.607													13	26					1.5739e-10	1.76063e-10	0.500413	1	0	T	67283790	G	T	67283790	2	4	70	1	0	0	0	0	0	0	0	1	10923	1335	47	5		5	OPHN1	23	67283790	Silent	SNP	G	TCGA-DU-5847-01A-11D-1705-08	12250264	67283790	87986770	42	3147											
ACSL4	2182	broad.mit.edu	37	X	108921235	108921235	+	Silent	SNP	C	C	T			TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chrX:108921235C>T	ENST00000340800.2	-	9	1539	c.1035G>A	c.(1033-1035)ccG>ccA	p.P345P	ACSL4_ENST00000348502.6_Silent_p.P304P|ACSL4_ENST00000469796.2_Silent_p.P345P	NM_022977.2	NP_075266.1	O60488	ACSL4_HUMAN	acyl-CoA synthetase long-chain family member 4	345					fatty acid metabolic process|learning or memory|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity	p.P345P(1)		breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)	22					Icosapent(DB00159)|Troglitazone(DB00197)	AGAGTGTAAGCGGAGAAGAAT	0.428													55	83					0	0	0.870114	0	0	T	108921235	C	T	108921235	2	4	70	1	0	0	0	0	0	0	0	1	179	755	27	1		1	ACSL4	23	108921235	Silent	SNP	C	TCGA-DU-5847-01A-11D-1705-08	41637445	108921235	46349325	43	3148											
DCAF12L1	139170	broad.mit.edu	37	X	125685930	125685930	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chrX:125685930C>T	ENST00000371126.1	-	1	904	c.662G>A	c.(661-663)cGg>cAg	p.R221Q		NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	221										breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						CGGGTCCATCCGCCACAGCGC	0.657													17	25					0	0	0.520397	0	0	T	125685930	C	T	125685930	3	4	70	1	0	0	0	0	1	0	0	0	4288	652	23	1	733	1	DCAF12L1	23	125685930	Missense_Mutation	SNP	C	TCGA-DU-5847-01A-11D-1705-08	16764695	125685930	29584630	44	3149											
CXorf40B	541578	broad.mit.edu	37	X	149100914	149100914	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chrX:149100914T>A	ENST00000370406.3	-	5	1153	c.325A>T	c.(325-327)Aat>Tat	p.N109Y	CXorf40B_ENST00000462691.1_Missense_Mutation_p.N109Y|CXorf40B_ENST00000370404.1_Missense_Mutation_p.N109Y|CXorf40B_ENST00000355203.2_Missense_Mutation_p.N109Y			Q96DE9	CX04B_HUMAN	chromosome X open reading frame 40B	109										endometrium(1)|lung(4)	5	Acute lymphoblastic leukemia(192;6.56e-05)					GCAGCTTGATTTTCTAGTTCC	0.473													39	65					0	0	0.812448	0	0	A	149100914	T	A	149100914	3	1	70	1	0	0	0	0	1	0	0	0	4132	1841	64	5	155	5	CXorf40B	23	149100914	Missense_Mutation	SNP	T	TCGA-DU-5847-01A-11D-1705-08	23414984	149100914	6169646	45	3150											
FUBP1	8880	broad.mit.edu	37	1	78444686	78444686	+	Translation_Start_Site	SNP	C	C	A			TCGA-DU-5849-01A-11D-1705-08	TCGA-DU-5849-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcde1486-c728-4841-ab69-c8cb16706fc2	189c09ae-f5aa-4b68-89d8-65eb6bc57683	g.chr1:78444686C>A	ENST00000370767.1	-	1	90	c.3G>T	c.(1-3)atG>atT	p.M1I	FUBP1_ENST00000436586.2_Start_Codon_SNP_p.M1I|FUBP1_ENST00000370768.2_Start_Codon_SNP_p.M1I			Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1	1					transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						AATAGTCTGCCATGGTTGCAC	0.542			"F, N"		oligodendroglioma								5	21					0.184627	0.187811	0.184627	1	0	A	78444686	C	A	78444686	1	1	71	1	0	0	0	0	0	0	0	0	6127	594	21	5		5	FUBP1	1	78444686	Translation_Start_Site	SNP	C	TCGA-DU-5849-01A-11D-1705-08		78444686	170805935	1	3151											
COPA	1314	broad.mit.edu	37	1	160268752	160268752	+	Silent	SNP	T	T	C			TCGA-DU-5849-01A-11D-1705-08	TCGA-DU-5849-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcde1486-c728-4841-ab69-c8cb16706fc2	189c09ae-f5aa-4b68-89d8-65eb6bc57683	g.chr1:160268752T>C	ENST00000241704.7	-	19	2089	c.1860A>G	c.(1858-1860)ctA>ctG	p.L620L	COPA_ENST00000368069.3_Silent_p.L629L	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	coatomer protein complex, subunit alpha	620					COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction	hormone activity|structural molecule activity			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			ACTGGCCAACTAGTTTGGCAT	0.443													16	62					0	0	0.539581	0	0	C	160268752	T	C	160268752	2	2	71	1	0	0	0	0	0	0	0	1	3750	1509	53	3		3	COPA	1	160268752	Silent	SNP	T	TCGA-DU-5849-01A-11D-1705-08	81824066	160268752	88981869	2	3152											
VRK2	7444	broad.mit.edu	37	2	58311264	58311264	+	Silent	SNP	A	A	G			TCGA-DU-5849-01A-11D-1705-08	TCGA-DU-5849-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcde1486-c728-4841-ab69-c8cb16706fc2	189c09ae-f5aa-4b68-89d8-65eb6bc57683	g.chr2:58311264A>G	ENST00000435505.2	+	6	922	c.177A>G	c.(175-177)gtA>gtG	p.V59V	VRK2_ENST00000440705.2_Silent_p.V36V|VRK2_ENST00000417641.2_Silent_p.V59V|VRK2_ENST00000412104.2_Silent_p.V59V|VRK2_ENST00000340157.4_Silent_p.V59V			Q86Y07	VRK2_HUMAN	vaccinia related kinase 2	59	Protein kinase.					integral to membrane	ATP binding|protein binding|protein serine/threonine kinase activity			endometrium(4)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)	24						CAAGACATGTAGTAAAAGTGG	0.308													12	36					0	0	0.457914	0	0	G	58311264	A	G	58311264	2	3	71	1	0	0	0	0	0	0	0	1	17280	407	15	3		3	VRK2	2	58311264	Silent	SNP	A	TCGA-DU-5849-01A-11D-1705-08		58311264	184888109	3	3153											
SLC20A1	6574	broad.mit.edu	37	2	113416617	113416617	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-5849-01A-11D-1705-08	TCGA-DU-5849-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcde1486-c728-4841-ab69-c8cb16706fc2	189c09ae-f5aa-4b68-89d8-65eb6bc57683	g.chr2:113416617A>G	ENST00000272542.3	+	7	1533	c.994A>G	c.(994-996)Agg>Ggg	p.R332G	SLC20A1_ENST00000480984.1_3'UTR	NM_005415.4	NP_005406.3	Q8WUM9	S20A1_HUMAN	solute carrier family 20 (phosphate transporter), member 1	332					phosphate metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to plasma membrane	inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|skin(1)|urinary_tract(3)	28						AGAGAGAGAGAGGCTTCCCAG	0.517													3	62					0	0	0.115264	0	0	G	113416617	A	G	113416617	3	3	71	1	0	0	0	0	1	0	0	0	14493	295	11	3	1016	3	SLC20A1	2	113416617	Missense_Mutation	SNP	A	TCGA-DU-5849-01A-11D-1705-08	55105353	113416617	129782756	4	3154											
GLI2	2736	broad.mit.edu	37	2	121684944	121684944	+	Silent	SNP	G	G	A			TCGA-DU-5849-01A-11D-1705-08	TCGA-DU-5849-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcde1486-c728-4841-ab69-c8cb16706fc2	189c09ae-f5aa-4b68-89d8-65eb6bc57683	g.chr2:121684944G>A	ENST00000452319.1	+	3	216	c.156G>A	c.(154-156)caG>caA	p.Q52Q	GLI2_ENST00000314490.11_5'UTR|GLI2_ENST00000361492.4_Silent_p.Q52Q|GLI2_ENST00000435313.2_3'UTR			P10070	GLI2_HUMAN	GLI family zinc finger 2	52					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				CAGTGCCGCAGCATCTCTTGC	0.502													10	159					0	0	0.361761	0	0	A	121684944	G	A	121684944	2	1	71	1	0	0	0	0	0	0	0	1	6480	962	34	2		2	GLI2	2	121684944	Silent	SNP	G	TCGA-DU-5849-01A-11D-1705-08	8268327	121684944	121514429	5	3155											
PBRM1	55193	broad.mit.edu	37	3	52643532	52643532	+	Silent	SNP	T	T	A			TCGA-DU-5849-01A-11D-1705-08	TCGA-DU-5849-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcde1486-c728-4841-ab69-c8cb16706fc2	189c09ae-f5aa-4b68-89d8-65eb6bc57683	g.chr3:52643532T>A	ENST00000356770.4	-	15	2270	c.2268A>T	c.(2266-2268)tcA>tcT	p.S756S	PBRM1_ENST00000296302.7_Silent_p.S788S|PBRM1_ENST00000394830.3_Silent_p.S788S|PBRM1_ENST00000409114.3_Silent_p.S803S|PBRM1_ENST00000409057.1_Silent_p.S788S|PBRM1_ENST00000409767.1_Silent_p.S803S|PBRM1_ENST00000410007.1_Silent_p.S788S|PBRM1_ENST00000337303.4_Silent_p.S788S			Q86U86	PB1_HUMAN	polybromo 1	788					chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		GACTCATGACTGACACAAAAA	0.453			"Mis, N, F, S, D, O"		"clear cell renal carcinoma, breast"								5	70					0	0	0.217242	0	0	A	52643532	T	A	52643532	2	1	71	1	0	0	0	0	0	0	0	1	11538	1567	55	5		5	PBRM1	3	52643532	Silent	SNP	T	TCGA-DU-5849-01A-11D-1705-08		52643532	145378898	6	3156											
ZBTB20	26137	broad.mit.edu	37	3	114070194	114070194	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-5849-01A-11D-1705-08	TCGA-DU-5849-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcde1486-c728-4841-ab69-c8cb16706fc2	189c09ae-f5aa-4b68-89d8-65eb6bc57683	g.chr3:114070194T>C	ENST00000462705.1	-	11	1333	c.512A>G	c.(511-513)tAc>tGc	p.Y171C	ZBTB20_ENST00000471418.1_Missense_Mutation_p.Y171C|ZBTB20_ENST00000481632.1_Missense_Mutation_p.Y171C|ZBTB20_ENST00000464560.1_Missense_Mutation_p.Y171C|ZBTB20_ENST00000474710.1_Missense_Mutation_p.Y244C|ZBTB20_ENST00000357258.3_Missense_Mutation_p.Y171C|ZBTB20_ENST00000393785.2_Missense_Mutation_p.Y171C	NM_001164343.1	NP_001157815.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	244					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		GAGTGCCGAGTAGATCCTGTC	0.667													11	62					0	0	0.361761	0	0	C	114070194	T	C	114070194	3	2	71	1	0	0	0	0	1	0	0	0	17588	1638	57	3	1502	3	ZBTB20	3	114070194	Missense_Mutation	SNP	T	TCGA-DU-5849-01A-11D-1705-08	61426662	114070194	83952236	7	3157											
KY	339855	broad.mit.edu	37	3	134369693	134369693	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-5849-01A-11D-1705-08	TCGA-DU-5849-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcde1486-c728-4841-ab69-c8cb16706fc2	189c09ae-f5aa-4b68-89d8-65eb6bc57683	g.chr3:134369693G>A	ENST00000508956.1	-	1	167	c.110C>T	c.(109-111)cCg>cTg	p.P37L	KY_ENST00000423778.2_Missense_Mutation_p.P37L|KY_ENST00000503669.1_Missense_Mutation_p.P37L			Q8NBH2	KY_HUMAN	kyphoscoliosis peptidase	37						cytoskeleton|Z disc	peptidase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|lung(12)|ovary(2)|upper_aerodigestive_tract(2)	21						CAGCGAGCTCGGGTTCGCCTG	0.682													5	13					0	0	0.184627	0	0	A	134369693	G	A	134369693	3	1	71	1	0	0	0	0	1	0	0	0	8625	1116	39	1	1919	1	KY	3	134369693	Missense_Mutation	SNP	G	TCGA-DU-5849-01A-11D-1705-08	20299499	134369693	63652737	8	3158											
SERPINI1	5274	broad.mit.edu	37	3	167508323	167508323	+	Silent	SNP	T	T	C			TCGA-DU-5849-01A-11D-1705-08	TCGA-DU-5849-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcde1486-c728-4841-ab69-c8cb16706fc2	189c09ae-f5aa-4b68-89d8-65eb6bc57683	g.chr3:167508323T>C	ENST00000295777.5	+	3	845	c.414T>C	c.(412-414)caT>caC	p.H138H	SERPINI1_ENST00000446050.2_Silent_p.H138H	NM_005025.4	NP_005016.1	Q99574	NEUS_HUMAN	serpin peptidase inhibitor, clade I (neuroserpin), member 1	138					central nervous system development|peripheral nervous system development|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(7)|skin(2)	20						CAGTAAATCATGTGGACTTCA	0.363													21	34					0	0	0.592651	0	0	C	167508323	T	C	167508323	2	2	71	1	0	0	0	0	0	0	0	1	14172	1461	51	3		3	SERPINI1	3	167508323	Silent	SNP	T	TCGA-DU-5849-01A-11D-1705-08	33138630	167508323	30514107	9	3159											
FAM193A	8603	broad.mit.edu	37	4	2702268	2702268	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-5849-01A-11D-1705-08	TCGA-DU-5849-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcde1486-c728-4841-ab69-c8cb16706fc2	189c09ae-f5aa-4b68-89d8-65eb6bc57683	g.chr4:2702268A>G	ENST00000324666.5	+	17	3847	c.3496A>G	c.(3496-3498)Att>Gtt	p.I1166V	FAM193A_ENST00000505311.1_Missense_Mutation_p.I1166V|FAM193A_ENST00000545951.1_Missense_Mutation_p.I1166V|FAM193A_ENST00000382839.3_Missense_Mutation_p.I1166V|FAM193A_ENST00000502458.1_Missense_Mutation_p.I1188V	NM_001256666.1	NP_001243595.1	P78312	F193A_HUMAN	family with sequence similarity 193, member A	1166										NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	40						CAACAATTCAATTGGTAAATA	0.458													3	30					0	0	0.115264	0	0	G	2702268	A	G	2702268	3	3	71	1	0	0	0	0	1	0	0	0	5556	101	4	3	3554	3	FAM193A	4	2702268	Missense_Mutation	SNP	A	TCGA-DU-5849-01A-11D-1705-08		2702268	188452008	10	3160											
LPHN3	23284	broad.mit.edu	37	4	62453140	62453140	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-5849-01A-11D-1705-08	TCGA-DU-5849-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcde1486-c728-4841-ab69-c8cb16706fc2	189c09ae-f5aa-4b68-89d8-65eb6bc57683	g.chr4:62453140A>G	ENST00000512091.2	+	4	998	c.251A>G	c.(250-252)tAt>tGt	p.Y84C	LPHN3_ENST00000514591.1_Missense_Mutation_p.Y84C|LPHN3_ENST00000507164.1_Missense_Mutation_p.Y152C|LPHN3_ENST00000514157.1_Missense_Mutation_p.Y84C|LPHN3_ENST00000511324.1_Missense_Mutation_p.Y152C|LPHN3_ENST00000508693.1_Missense_Mutation_p.Y152C|LPHN3_ENST00000504896.1_Missense_Mutation_p.Y84C|LPHN3_ENST00000506700.1_Missense_Mutation_p.Y84C|LPHN3_ENST00000508946.1_Missense_Mutation_p.Y84C|LPHN3_ENST00000506720.1_Missense_Mutation_p.Y152C|LPHN3_ENST00000507625.1_Missense_Mutation_p.Y152C|LPHN3_ENST00000545650.1_Missense_Mutation_p.Y84C|LPHN3_ENST00000509896.1_Missense_Mutation_p.Y152C|LPHN3_ENST00000514996.1_Missense_Mutation_p.Y84C|LPHN3_ENST00000506746.1_Missense_Mutation_p.Y152C			Q9HAR2	LPHN3_HUMAN	latrophilin 3		SUEL-type lectin.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						CCAGATGCCTATAAGATTATG	0.363													6	18					0	0	0.248553	0	0	G	62453140	A	G	62453140	3	3	71	1	0	0	0	0	1	0	0	0	8962	449	16	3	257	3	LPHN3	4	62453140	Missense_Mutation	SNP	A	TCGA-DU-5849-01A-11D-1705-08	59750872	62453140	128701136	11	3161											
ART3	419	broad.mit.edu	37	4	77018807	77018807	+	Silent	SNP	C	C	T			TCGA-DU-5849-01A-11D-1705-08	TCGA-DU-5849-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcde1486-c728-4841-ab69-c8cb16706fc2	189c09ae-f5aa-4b68-89d8-65eb6bc57683	g.chr4:77018807C>T	ENST00000355810.4	+	4	911	c.792C>T	c.(790-792)acC>acT	p.T264T	ART3_ENST00000349321.3_Silent_p.T264T|ART3_ENST00000341029.5_Silent_p.T264T|ART3_ENST00000513494.1_3'UTR	NM_001130016.2	NP_001123488.1	Q13508	NAR3_HUMAN	ADP-ribosyltransferase 3	264					protein ADP-ribosylation	anchored to membrane|integral to plasma membrane	NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|stomach(1)	16			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			GACTAAAAACCGAAAACTGTA	0.328													21	53					0	0	0.592651	0	0	T	77018807	C	T	77018807	2	4	71	1	0	0	0	0	0	0	0	1	997	639	23	1		1	ART3	4	77018807	Silent	SNP	C	TCGA-DU-5849-01A-11D-1705-08	14565667	77018807	114135469	12	3162											
MTNR1A	4543	broad.mit.edu	37	4	187455100	187455100	+	Missense_Mutation	SNP	C	C	T	rs148793802		TCGA-DU-5849-01A-11D-1705-08	TCGA-DU-5849-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcde1486-c728-4841-ab69-c8cb16706fc2	189c09ae-f5aa-4b68-89d8-65eb6bc57683	g.chr4:187455100C>T	ENST00000307161.5	-	2	997	c.796G>A	c.(796-798)Gcc>Acc	p.A266T	RP11-215A19.2_ENST00000509111.1_Intron	NM_005958.3	NP_005949.1	P48039	MTR1A_HUMAN	melatonin receptor 1A	266					circadian rhythm|G-protein signaling, coupled to cyclic nucleotide second messenger|mating behavior	integral to plasma membrane	melatonin receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	14		all_cancers(14;6.39e-56)|all_epithelial(14;1.48e-41)|all_lung(41;2.45e-15)|Lung NSC(41;7.26e-15)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00335)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|Renal(120;0.0183)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;7.63e-12)|BRCA - Breast invasive adenocarcinoma(30;6.68e-07)|GBM - Glioblastoma multiforme(59;3.44e-05)|LUSC - Lung squamous cell carcinoma(40;0.000106)|STAD - Stomach adenocarcinoma(60;0.000279)|READ - Rectum adenocarcinoma(43;0.159)	Melatonin(DB01065)|Ramelteon(DB00980)	ACCATGCTGGCGGGGTCAGAG	0.507													6	83					0	0	0.27861	0	0	T	187455100	C	T	187455100	3	4	71	1	0	0	0	0	1	0	0	0	9999	768	27	1	260	1	MTNR1A	4	187455100	Missense_Mutation	SNP	C	TCGA-DU-5849-01A-11D-1705-08	110436293	187455100	3699176	13	3163											
DNAH5	1767	broad.mit.edu	37	5	13736040	13736040	+	Splice_Site	SNP	C	C	G			TCGA-DU-5849-01A-11D-1705-08	TCGA-DU-5849-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcde1486-c728-4841-ab69-c8cb16706fc2	189c09ae-f5aa-4b68-89d8-65eb6bc57683	g.chr5:13736040C>G	ENST00000265104.4	-	67	11561	c.11457G>C	c.(11455-11457)gtG>gtC	p.V3819V		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3819					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CCCGCGTAGCCACTGGAAGAC	0.443									Kartagener syndrome				10	47					0	0	0.335167	0	0	G	13736040	C	G	13736040	5	3	71	1	0	0	0	0	0	0	1	0	4632	608	21	5	2469	5	DNAH5	5	13736040	Splice_Site	SNP	C	TCGA-DU-5849-01A-11D-1705-08		13736040	167179220	14	3164											
PCDHB2	56133	broad.mit.edu	37	5	140474488	140474488	+	Silent	SNP	C	C	T	rs142513918	byFrequency	TCGA-DU-5849-01A-11D-1705-08	TCGA-DU-5849-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcde1486-c728-4841-ab69-c8cb16706fc2	189c09ae-f5aa-4b68-89d8-65eb6bc57683	g.chr5:140474488C>T	ENST00000194155.4	+	1	262	c.114C>T	c.(112-114)gcC>gcT	p.A38A		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN		38	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ATTCAGTGGCCGAGGAAACGG	0.532													3	51					0	0	0.115264	0	0	T	140474488	C	T	140474488	2	4	71	1	0	0	0	0	0	0	0	1	11589	639	23	1		1	PCDHB2	5	140474488	Silent	SNP	C	TCGA-DU-5849-01A-11D-1705-08	126738448	140474488	40440772	15	3165											
RELL2	285613	broad.mit.edu	37	5	141019513	141019513	+	Missense_Mutation	SNP	G	G	C	rs143590565	byFrequency	TCGA-DU-5849-01A-11D-1705-08	TCGA-DU-5849-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcde1486-c728-4841-ab69-c8cb16706fc2	189c09ae-f5aa-4b68-89d8-65eb6bc57683	g.chr5:141019513G>C	ENST00000297164.3	+	5	1730	c.530G>C	c.(529-531)cGc>cCc	p.R177P	RELL2_ENST00000521367.1_Missense_Mutation_p.R111P|FCHSD1_ENST00000523856.1_5'UTR|FCHSD1_ENST00000435817.2_3'UTR|RELL2_ENST00000518856.1_Missense_Mutation_p.R111P|RELL2_ENST00000444782.1_Missense_Mutation_p.R177P|RELL2_ENST00000518025.1_3'UTR	NM_173828.4	NP_776189.3	Q8NC24	RELL2_HUMAN	RELT-like 2	177						integral to membrane|plasma membrane				large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATTGAGAAGCGCTATGGACTG	0.647													3	55					0	0	0.115264	0	0	C	141019513	G	C	141019513	3	2	71	1	0	0	0	0	1	0	0	0	13271	1087	38	5	548	5	RELL2	5	141019513	Missense_Mutation	SNP	G	TCGA-DU-5849-01A-11D-1705-08	545025	141019513	39895747	16	3166											
TNXB	7148	broad.mit.edu	37	6	32030161	32030161	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-5849-01A-11D-1705-08	TCGA-DU-5849-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcde1486-c728-4841-ab69-c8cb16706fc2	189c09ae-f5aa-4b68-89d8-65eb6bc57683	g.chr6:32030161G>A	ENST00000375244.3	-	20	7142	c.6941C>T	c.(6940-6942)gCg>gTg	p.A2314V	TNXB_ENST00000375247.2_Missense_Mutation_p.A2314V			P22105	TENX_HUMAN	tenascin XB	2376	Fibronectin type-III 15.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GTCAGGGGTCGCATCTGTCAC	0.612													3	26					0	0	0.115264	0	0	A	32030161	G	A	32030161	3	1	71	1	0	0	0	0	1	0	0	0	16406	1087	38	1	7872	1	TNXB	6	32030161	Missense_Mutation	SNP	G	TCGA-DU-5849-01A-11D-1705-08		32030161	139084906	17	3167											
IMPG1	3617	broad.mit.edu	37	6	76657112	76657112	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-5849-01A-11D-1705-08	TCGA-DU-5849-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcde1486-c728-4841-ab69-c8cb16706fc2	189c09ae-f5aa-4b68-89d8-65eb6bc57683	g.chr6:76657112C>T	ENST00000369950.3	-	14	2152	c.1963G>A	c.(1963-1965)Ggg>Agg	p.G655R	IMPG1_ENST00000369963.3_3'UTR	NM_001282368.1|NM_001563.2	NP_001269297.1|NP_001554.2	Q17R60	IMPG1_HUMAN	interphotoreceptor matrix proteoglycan 1	655	SEA 2.				visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity			breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				TCCAAGACCCCGTGCACAGCC	0.448													13	47					0	0	0.411799	0	0	T	76657112	C	T	76657112	3	4	71	1	0	0	0	0	1	0	0	0	7772	652	23	1	446	1	IMPG1	6	76657112	Missense_Mutation	SNP	C	TCGA-DU-5849-01A-11D-1705-08	44626951	76657112	94457955	18	3168											
GIMAP5	55340	broad.mit.edu	37	7	150439615	150439615	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-5849-01A-11D-1705-08	TCGA-DU-5849-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcde1486-c728-4841-ab69-c8cb16706fc2	189c09ae-f5aa-4b68-89d8-65eb6bc57683	g.chr7:150439615G>A	ENST00000358647.3	+	3	755	c.388G>A	c.(388-390)Gcc>Acc	p.A130T	GIMAP5_ENST00000479556.1_3'UTR	NM_018384.4	NP_060854.2			GTPase, IMAP family member 5											central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|urinary_tract(2)	19			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GGACACAGTGGCCATCAGGAA	0.592													63	65					0	0	0.870114	0	0	A	150439615	G	A	150439615	3	1	71	1	0	0	0	0	1	0	0	0	6424	1203	42	2	394	2	GIMAP5	7	150439615	Missense_Mutation	SNP	G	TCGA-DU-5849-01A-11D-1705-08		150439615	8699048	19	3169											
PRKDC	5591	broad.mit.edu	37	8	48744441	48744441	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-5849-01A-11D-1705-08	TCGA-DU-5849-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcde1486-c728-4841-ab69-c8cb16706fc2	189c09ae-f5aa-4b68-89d8-65eb6bc57683	g.chr8:48744441C>A	ENST00000314191.2	-	61	8252	c.8196G>T	c.(8194-8196)atG>atT	p.M2732I	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Missense_Mutation_p.M2732I	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	2733	KIP-binding.				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				CCTGGTCCCTCATAAACCGTC	0.542								Non-homologous end-joining					26	154					6.07407e-21	6.7617e-21	0.717897	1	0	A	48744441	C	A	48744441	3	1	71	1	0	0	0	0	1	0	0	0	12573	826	29	5	4295	5	PRKDC	8	48744441	Missense_Mutation	SNP	C	TCGA-DU-5849-01A-11D-1705-08		48744441	97619581	20	3170											
EPPK1	83481	broad.mit.edu	37	8	144945366	144945366	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-5849-01A-11D-1705-08	TCGA-DU-5849-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcde1486-c728-4841-ab69-c8cb16706fc2	189c09ae-f5aa-4b68-89d8-65eb6bc57683	g.chr8:144945366G>A	ENST00000525985.1	-	2	2127	c.2056C>T	c.(2056-2058)Cgc>Tgc	p.R686C				P58107	EPIPL_HUMAN	epiplakin 1	686						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)			GTGACAGCGCGCTCAGCCGAC	0.617													8	27					0	0	0.307466	0	0	A	144945366	G	A	144945366	3	1	71	1	0	0	0	0	1	0	0	0	5218	1087	38	1	5210	1	EPPK1	8	144945366	Missense_Mutation	SNP	G	TCGA-DU-5849-01A-11D-1705-08	96200925	144945366	1418656	21	3171											
SMC2	10592	broad.mit.edu	37	9	106860785	106860785	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-5849-01A-11D-1705-08	TCGA-DU-5849-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcde1486-c728-4841-ab69-c8cb16706fc2	189c09ae-f5aa-4b68-89d8-65eb6bc57683	g.chr9:106860785G>C	ENST00000286398.7	+	4	665	c.377G>C	c.(376-378)aGa>aCa	p.R126T	SMC2_ENST00000303219.8_Missense_Mutation_p.R126T|SMC2_ENST00000374793.3_Missense_Mutation_p.R126T|SMC2_ENST00000374787.3_Missense_Mutation_p.R126T	NM_001042551.1|NM_001265602.1|NM_006444.2	NP_001036016.1|NP_001252531.1|NP_006435.2	O95347	SMC2_HUMAN	structural maintenance of chromosomes 2	126					cell division|mitotic chromosome condensation|symbiosis, encompassing mutualism through parasitism	condensin complex|cytoplasm|nuclear chromosome	ATP binding|protein heterodimerization activity			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						AACAACACCAGAGTACAGGAT	0.338													6	113					0	0	0.248553	0	0	C	106860785	G	C	106860785	3	2	71	1	0	0	0	0	1	0	0	0	14837	942	33	4	387	4	SMC2	9	106860785	Missense_Mutation	SNP	G	TCGA-DU-5849-01A-11D-1705-08		106860785	34352646	22	3172											
CUBN	8029	broad.mit.edu	37	10	16877063	16877063	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-5849-01A-11D-1705-08	TCGA-DU-5849-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcde1486-c728-4841-ab69-c8cb16706fc2	189c09ae-f5aa-4b68-89d8-65eb6bc57683	g.chr10:16877063G>T	ENST00000377833.4	-	64	10377	c.10312C>A	c.(10312-10314)Cat>Aat	p.H3438N		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	3438	CUB 26.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CCAAGTGAATGAAAAAAGAGG	0.428													16	67					6.31663e-08	6.77602e-08	0.479597	1	0	T	16877063	G	T	16877063	3	4	71	1	0	0	0	0	1	0	0	0	4074	1290	45	5	575	5	CUBN	10	16877063	Missense_Mutation	SNP	G	TCGA-DU-5849-01A-11D-1705-08		16877063	118657684	23	3173											
PCDH15	65217	broad.mit.edu	37	10	55569195	55569195	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-5849-01A-11D-1705-08	TCGA-DU-5849-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcde1486-c728-4841-ab69-c8cb16706fc2	189c09ae-f5aa-4b68-89d8-65eb6bc57683	g.chr10:55569195T>C	ENST00000395445.1	-	36	5009	c.4615A>G	c.(4615-4617)Aca>Gca	p.T1539A	PCDH15_ENST00000395442.1_Missense_Mutation_p.T404A|PCDH15_ENST00000395440.1_Missense_Mutation_p.T473A|PCDH15_ENST00000409834.1_3'UTR|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000395438.1_3'UTR|PCDH15_ENST00000395446.1_Missense_Mutation_p.T735A	NM_001142769.1	NP_001136241.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	0					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				CTCTTCCATGTTGTGTATGTA	0.403										HNSCC(58;0.16)			8	137					0	0	0.335167	0	0	C	55569195	T	C	55569195	3	2	71	1	0	0	0	0	1	0	0	0	11558	1725	60	3	1301	3	PCDH15	10	55569195	Missense_Mutation	SNP	T	TCGA-DU-5849-01A-11D-1705-08	38692132	55569195	79965552	24	3174											
LETMD1	25875	broad.mit.edu	37	12	51450230	51450230	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-5849-01A-11D-1705-08	TCGA-DU-5849-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcde1486-c728-4841-ab69-c8cb16706fc2	189c09ae-f5aa-4b68-89d8-65eb6bc57683	g.chr12:51450230A>G	ENST00000418425.2	+	7	918	c.899A>G	c.(898-900)gAc>gGc	p.D300G	LETMD1_ENST00000548516.1_3'UTR|LETMD1_ENST00000550929.1_Missense_Mutation_p.D231G|LETMD1_ENST00000552739.1_Missense_Mutation_p.D170G|LETMD1_ENST00000262055.4_Missense_Mutation_p.D287G|LETMD1_ENST00000380123.2_3'UTR|LETMD1_ENST00000547008.1_Missense_Mutation_p.D163G	NM_001243689.1	NP_001230618.1	Q6P1Q0	LTMD1_HUMAN	LETM1 domain containing 1	287	LETM1.					integral to membrane|mitochondrial outer membrane	protein binding			central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(3)	16						CACCAACTGGACAAGGCTTTG	0.498													4	117					0	0	0.184627	0	0	G	51450230	A	G	51450230	3	3	71	1	0	0	0	0	1	0	0	0	8775	275	10	3	886	3	LETMD1	12	51450230	Missense_Mutation	SNP	A	TCGA-DU-5849-01A-11D-1705-08		51450230	82401665	25	3175											
LEMD3	23592	broad.mit.edu	37	12	65639990	65639990	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-5849-01A-11D-1705-08	TCGA-DU-5849-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcde1486-c728-4841-ab69-c8cb16706fc2	189c09ae-f5aa-4b68-89d8-65eb6bc57683	g.chr12:65639990G>A	ENST00000308330.2	+	13	2647	c.2621G>A	c.(2620-2622)cGc>cAc	p.R874H		NM_001167614.1|NM_014319.4	NP_001161086.1|NP_055134.2	Q9Y2U8	MAN1_HUMAN	LEM domain containing 3	874	Interaction with SMAD1, SMAD2, SMAD3 and SMAD5.				negative regulation of activin receptor signaling pathway|negative regulation of BMP signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway	integral to nuclear inner membrane|membrane fraction	DNA binding|nucleotide binding|protein binding			breast(1)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	36			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0104)		TACCACCATCGCTTTCCCCAG	0.358													4	88					0	0	0.150653	0	0	A	65639990	G	A	65639990	3	1	71	1	0	0	0	0	1	0	0	0	8760	1087	38	1	2671	1	LEMD3	12	65639990	Missense_Mutation	SNP	G	TCGA-DU-5849-01A-11D-1705-08	14189760	65639990	68211905	26	3176											
HAL	3034	broad.mit.edu	37	12	96389484	96389484	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-5849-01A-11D-1705-08	TCGA-DU-5849-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcde1486-c728-4841-ab69-c8cb16706fc2	189c09ae-f5aa-4b68-89d8-65eb6bc57683	g.chr12:96389484G>A	ENST00000261208.3	-	2	573	c.205C>T	c.(205-207)Cgg>Tgg	p.R69W	HAL_ENST00000538703.1_Missense_Mutation_p.R69W|HAL_ENST00000541929.1_5'UTR	NM_002108.3	NP_002099.1	P42357	HUTH_HUMAN	histidine ammonia-lyase	69					biosynthetic process|histidine catabolic process	cytosol	histidine ammonia-lyase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	34					L-Histidine(DB00117)	ACCTCGAGCCGGTCCTCGTTG	0.612													6	25					0	0	0.217242	0	0	A	96389484	G	A	96389484	3	1	71	1	0	0	0	0	1	0	0	0	6988	1115	39	1	1848	1	HAL	12	96389484	Missense_Mutation	SNP	G	TCGA-DU-5849-01A-11D-1705-08	30749494	96389484	37462411	27	3177											
TPM1	7168	broad.mit.edu	37	15	63354774	63354774	+	Splice_Site	SNP	G	G	A			TCGA-DU-5849-01A-11D-1705-08	TCGA-DU-5849-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcde1486-c728-4841-ab69-c8cb16706fc2	189c09ae-f5aa-4b68-89d8-65eb6bc57683	g.chr15:63354774G>A	ENST00000357980.4	+	9	907		c.e9-1		TPM1_ENST00000560445.1_Intron|TPM1_ENST00000317516.7_Splice_Site|TPM1_ENST00000559397.1_Splice_Site|TPM1_ENST00000404484.4_Splice_Site|TPM1_ENST00000334895.5_Splice_Site|TPM1_ENST00000403994.3_Splice_Site|TPM1_ENST00000358278.3_Splice_Site|TPM1_ENST00000267996.7_Splice_Site|TPM1_ENST00000560959.1_Splice_Site|TPM1_ENST00000288398.6_Splice_Site|TPM1_ENST00000559556.1_Splice_Site|TPM1_ENST00000559281.1_Splice_Site			P09493	TPM1_HUMAN	tropomyosin 1 (alpha)						cardiac muscle contraction|cellular component movement|cellular response to reactive oxygen species|muscle filament sliding|negative regulation of cell migration|positive regulation of ATPase activity|positive regulation of cell adhesion|positive regulation of heart rate by epinephrine|positive regulation of stress fiber assembly|regulation of muscle contraction|ruffle organization|sarcomere organization|ventricular cardiac muscle tissue morphogenesis|wound healing	bleb|cytosol|muscle thin filament tropomyosin|ruffle membrane|stress fiber	actin binding|structural constituent of cytoskeleton|structural constituent of muscle			endometrium(1)|large_intestine(1)|lung(2)	4						AATCATTACAGGCTGAGACTC	0.358													14	56					0	0	0.500413	0	0	A	63354774	G	A	63354774	5	1	71	1	0	0	0	0	0	0	1	0	16466	1014	35	2	1078	2	TPM1	15	63354774	Splice_Site	SNP	G	TCGA-DU-5849-01A-11D-1705-08		63354774	39176618	28	3178											
IDH2	3418	broad.mit.edu	37	15	90631838	90631838	+	Missense_Mutation	SNP	C	C	T	rs121913503		TCGA-DU-5849-01A-11D-1705-08	TCGA-DU-5849-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcde1486-c728-4841-ab69-c8cb16706fc2	189c09ae-f5aa-4b68-89d8-65eb6bc57683	g.chr15:90631838C>T	ENST00000330062.3	-	4	628	c.515G>A	c.(514-516)aGg>aAg	p.R172K	IDH2_ENST00000539790.1_Missense_Mutation_p.R42K|IDH2_ENST00000559482.1_Intron|IDH2_ENST00000540499.2_Missense_Mutation_p.R120K	NM_002168.2	NP_002159.2	P48735	IDHP_HUMAN	isocitrate dehydrogenase 2 (NADP+), mitochondrial	172					2-oxoglutarate metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding	p.R172K(116)|p.R172M(21)|p.R172N(1)		biliary_tract(11)|bone(19)|central_nervous_system(107)|endometrium(1)|haematopoietic_and_lymphoid_tissue(953)|large_intestine(8)|lung(5)|skin(5)	1109	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.106)			ATGGGCGTGCCTGCCAATGGT	0.632			M		GBM								22	36					0	0	0.592651	0	0	T	90631838	C	T	90631838	3	4	71	1	0	0	0	0	1	0	0	0	7539	681	24	2	875	2	IDH2	15	90631838	Missense_Mutation	SNP	C	TCGA-DU-5849-01A-11D-1705-08	27277064	90631838	11899554	29	3179											
CACNG3	10368	broad.mit.edu	37	16	24372780	24372780	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-5849-01A-11D-1705-08	TCGA-DU-5849-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcde1486-c728-4841-ab69-c8cb16706fc2	189c09ae-f5aa-4b68-89d8-65eb6bc57683	g.chr16:24372780G>A	ENST00000005284.3	+	4	1746	c.544G>A	c.(544-546)Gga>Aga	p.G182R		NM_006539.3	NP_006530.1	O60359	CCG3_HUMAN	calcium channel, voltage-dependent, gamma subunit 3	182					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2)	40				GBM - Glioblastoma multiforme(48;0.0809)		CTTTTATTTCGGAGCCTTCTC	0.453													26	119					0	0	0.693898	0	0	A	24372780	G	A	24372780	3	1	71	1	0	0	0	0	1	0	0	0	2576	1117	39	1	558	1	CACNG3	16	24372780	Missense_Mutation	SNP	G	TCGA-DU-5849-01A-11D-1705-08		24372780	65981973	30	3180											
CNOT1	23019	broad.mit.edu	37	16	58565875	58565875	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-5849-01A-11D-1705-08	TCGA-DU-5849-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcde1486-c728-4841-ab69-c8cb16706fc2	189c09ae-f5aa-4b68-89d8-65eb6bc57683	g.chr16:58565875G>A	ENST00000317147.5	-	42	6496	c.6164C>T	c.(6163-6165)aCg>aTg	p.T2055M	CNOT1_ENST00000569240.1_Missense_Mutation_p.T2050M|CNOT1_ENST00000245138.4_Missense_Mutation_p.T906M	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	2055					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		CTGCTGTGGCGTATGTGCCAG	0.423													16	95					0	0	0.520397	0	0	A	58565875	G	A	58565875	3	1	71	1	0	0	0	0	1	0	0	0	3640	1145	40	1	998	1	CNOT1	16	58565875	Missense_Mutation	SNP	G	TCGA-DU-5849-01A-11D-1705-08	34193095	58565875	31788878	31	3181											
PER1	5187	broad.mit.edu	37	17	8054005	8054005	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-5849-01A-11D-1705-08	TCGA-DU-5849-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcde1486-c728-4841-ab69-c8cb16706fc2	189c09ae-f5aa-4b68-89d8-65eb6bc57683	g.chr17:8054005C>T	ENST00000317276.4	-	2	257	c.20G>A	c.(19-21)gGg>gAg	p.G7E	PER1_ENST00000354903.5_Intron|PER1_ENST00000581082.1_Missense_Mutation_p.G7E	NM_002616.2	NP_002607.2	O15534	PER1_HUMAN	period circadian clock 1	7					circadian rhythm|entrainment of circadian clock|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						CCCATCAGCCCCTTCTAGGGG	0.677			T	ETV6	"AML, CMML"			Other conserved DNA damage response genes					5	23					0	0	0.184627	0	0	T	8054005	C	T	8054005	3	4	71	1	0	0	0	0	1	0	0	0	11776	623	22	2	3940	2	PER1	17	8054005	Missense_Mutation	SNP	C	TCGA-DU-5849-01A-11D-1705-08		8054005	73141205	32	3182											
TRPV2	51393	broad.mit.edu	37	17	16336965	16336965	+	Silent	SNP	C	C	T			TCGA-DU-5849-01A-11D-1705-08	TCGA-DU-5849-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcde1486-c728-4841-ab69-c8cb16706fc2	189c09ae-f5aa-4b68-89d8-65eb6bc57683	g.chr17:16336965C>T	ENST00000338560.7	+	13	2466	c.2067C>T	c.(2065-2067)acC>acT	p.T689T	TRPV2_ENST00000577397.1_Silent_p.T259T	NM_016113.4	NP_057197.2	Q9Y5S1	TRPV2_HUMAN	transient receptor potential cation channel, subfamily V, member 2	689					sensory perception	integral to plasma membrane|melanosome	calcium channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|stomach(3)	28				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		TGATGCTGACCGTTGGCACTA	0.587													17	71					0	0	0.520397	0	0	T	16336965	C	T	16336965	2	4	71	1	0	0	0	0	0	0	0	1	16657	639	23	1		1	TRPV2	17	16336965	Silent	SNP	C	TCGA-DU-5849-01A-11D-1705-08	8282960	16336965	64858245	33	3183											
HDHD2	84064	broad.mit.edu	37	18	44656634	44656634	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-5849-01A-11D-1705-08	TCGA-DU-5849-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcde1486-c728-4841-ab69-c8cb16706fc2	189c09ae-f5aa-4b68-89d8-65eb6bc57683	g.chr18:44656634T>G	ENST00000300605.6	-	4	528	c.376A>C	c.(376-378)Att>Ctt	p.I126L	HDHD2_ENST00000587841.1_Intron	NM_032124.4	NP_115500.1	Q9H0R4	HDHD2_HUMAN	haloacid dehalogenase-like hydrolase domain containing 2	126							hydrolase activity			kidney(2)|large_intestine(2)|lung(1)|skin(1)	6						TGATTCAGAATTTGATAATGA	0.353													7	77					0	0	0.27861	0	0	G	44656634	T	G	44656634	3	3	71	1	0	0	0	0	1	0	0	0	7064	1493	52	4	419	4	HDHD2	18	44656634	Missense_Mutation	SNP	T	TCGA-DU-5849-01A-11D-1705-08		44656634	33420614	34	3184											
TICAM1	148022	broad.mit.edu	37	19	4817206	4817206	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-5849-01A-11D-1705-08	TCGA-DU-5849-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcde1486-c728-4841-ab69-c8cb16706fc2	189c09ae-f5aa-4b68-89d8-65eb6bc57683	g.chr19:4817206T>C	ENST00000248244.5	-	2	1413	c.1184A>G	c.(1183-1185)tAt>tGt	p.Y395C		NM_182919.3	NP_891549.1	Q8IUC6	TCAM1_HUMAN	toll-like receptor adaptor molecule 1	395	TIR.				apoptosis|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	protein kinase binding|signal transducer activity			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)		CACAAAGTTATAGAATTTCTG	0.592													23	25					0	0	0.608945	0	0	C	4817206	T	C	4817206	3	2	71	1	0	0	0	0	1	0	0	0	15952	1406	49	3	958	3	TICAM1	19	4817206	Missense_Mutation	SNP	T	TCGA-DU-5849-01A-11D-1705-08		4817206	54311777	35	3185											
OR10H5	284433	broad.mit.edu	37	19	15905003	15905003	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-5849-01A-11D-1705-08	TCGA-DU-5849-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcde1486-c728-4841-ab69-c8cb16706fc2	189c09ae-f5aa-4b68-89d8-65eb6bc57683	g.chr19:15905003G>C	ENST00000308940.8	+	1	243	c.145G>C	c.(145-147)Gtc>Ctc	p.V49L		NM_001004466.1	NP_001004466.1	Q8NGA6	O10H5_HUMAN	olfactory receptor, family 10, subfamily H, member 5	49					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(9)|ovary(1)	20						CATGGCCACTGTCTGGAGCGA	0.597													6	75					0	0	0.248553	0	0	C	15905003	G	C	15905003	3	2	71	1	0	0	0	0	1	0	0	0	10957	1377	48	5	147	5	OR10H5	19	15905003	Missense_Mutation	SNP	G	TCGA-DU-5849-01A-11D-1705-08	11087797	15905003	43223980	36	3186											
DDA1	79016	broad.mit.edu	37	19	17425150	17425150	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-5849-01A-11D-1705-08	TCGA-DU-5849-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcde1486-c728-4841-ab69-c8cb16706fc2	189c09ae-f5aa-4b68-89d8-65eb6bc57683	g.chr19:17425150C>T	ENST00000359866.4	+	3	212	c.88C>T	c.(88-90)Cga>Tga	p.R30*		NM_024050.5	NP_076955.1	Q9BW61	DDA1_HUMAN	DET1 and DDB1 associated 1	30										kidney(1)|large_intestine(1)|lung(1)|ovary(1)	4						CCTGCAGAACCGACGGCCCTC	0.607													5	36					0	0	0.217242	0	0	T	17425150	C	T	17425150	4	4	71	1	0	0	0	0	0	1	0	0	4343	644	23	1	98	1	DDA1	19	17425150	Nonsense_Mutation	SNP	C	TCGA-DU-5849-01A-11D-1705-08	1520147	17425150	41703833	37	3187											
IL12RB1	3594	broad.mit.edu	37	19	18191676	18191676	+	Silent	SNP	C	C	T			TCGA-DU-5849-01A-11D-1705-08	TCGA-DU-5849-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcde1486-c728-4841-ab69-c8cb16706fc2	189c09ae-f5aa-4b68-89d8-65eb6bc57683	g.chr19:18191676C>T	ENST00000600835.2	-	5	673	c.375G>A	c.(373-375)aaG>aaA	p.K125K	IL12RB1_ENST00000593993.2_Silent_p.K125K|IL12RB1_ENST00000322153.7_Silent_p.K125K			P42701	I12R1_HUMAN	interleukin 12 receptor, beta 1		Fibronectin type-III 1.				cellular response to interferon-gamma|interleukin-12-mediated signaling pathway|positive regulation of activated T cell proliferation|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response	interleukin-12 receptor complex|interleukin-23 receptor complex	cytokine receptor activity			endometrium(1)|kidney(1)|lung(3)|pancreas(1)|skin(2)	8						CCTCAGGAGACTTCTCTGTCT	0.587													18	45					0	0	0.539581	0	0	T	18191676	C	T	18191676	2	4	71	1	0	0	0	0	0	0	0	1	7670	564	20	2		2	IL12RB1	19	18191676	Silent	SNP	C	TCGA-DU-5849-01A-11D-1705-08	766526	18191676	40937307	38	3188											
RALGAPA2	57186	broad.mit.edu	37	20	20616214	20616214	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-5849-01A-11D-1705-08	TCGA-DU-5849-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcde1486-c728-4841-ab69-c8cb16706fc2	189c09ae-f5aa-4b68-89d8-65eb6bc57683	g.chr20:20616214C>T	ENST00000202677.7	-	9	860	c.853G>A	c.(853-855)Gac>Aac	p.D285N		NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN	Ral GTPase activating protein, alpha subunit 2 (catalytic)						activation of Ral GTPase activity	cytosol|nucleus	protein heterodimerization activity|Ral GTPase activator activity			endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						TTCTCATTGTCTCGAGTGGTA	0.343													21	137					0	0	0.608945	0	0	T	20616214	C	T	20616214	3	4	71	1	0	0	0	0	1	0	0	0	13066	913	32	2	4892	2	RALGAPA2	20	20616214	Missense_Mutation	SNP	C	TCGA-DU-5849-01A-11D-1705-08		20616214	42409306	39	3189											
GNAS	2778	broad.mit.edu	37	20	57415453	57415453	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-5849-01A-11D-1705-08	TCGA-DU-5849-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcde1486-c728-4841-ab69-c8cb16706fc2	189c09ae-f5aa-4b68-89d8-65eb6bc57683	g.chr20:57415453C>A	ENST00000313949.7	+	1	681	c.292C>A	c.(292-294)Ccc>Acc	p.P98T	GNAS-AS1_ENST00000598163.1_RNA|GNAS_ENST00000371098.2_Missense_Mutation_p.P98T|GNAS-AS1_ENST00000424094.2_RNA|GNAS-AS1_ENST00000443966.1_RNA|GNAS_ENST00000371075.3_Missense_Mutation_p.P98T			P63092	GNAS2_HUMAN	GNAS complex locus	100					activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity			adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			GCTGTCCCTCCCCGAGTGCCT	0.617			Mis		pituitary adenoma		"McCune-Albright syndrome; pseudohypoparathyroidism, type IA"			TSP Lung(22;0.16)			22	52					1.10923e-09	1.21194e-09	0.639603	1	0	A	57415453	C	A	57415453	3	1	71	1	0	0	0	0	1	0	0	0	6552	623	22	5	294	5	GNAS	20	57415453	Missense_Mutation	SNP	C	TCGA-DU-5849-01A-11D-1705-08	36799239	57415453	5610067	40	3190											
DONSON	29980	broad.mit.edu	37	21	34958408	34958408	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-5849-01A-11D-1705-08	TCGA-DU-5849-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcde1486-c728-4841-ab69-c8cb16706fc2	189c09ae-f5aa-4b68-89d8-65eb6bc57683	g.chr21:34958408G>A	ENST00000453626.1	-	3	486	c.482C>T	c.(481-483)aCg>aTg	p.T161M	DONSON_ENST00000303071.5_Missense_Mutation_p.T161M|DONSON_ENST00000303113.6_Missense_Mutation_p.T161M|AP000304.12_ENST00000429238.1_Silent_p.N122N|DONSON_ENST00000432378.1_Missense_Mutation_p.T161M			Q9NYP3	DONS_HUMAN	downstream neighbor of SON	161					multicellular organismal development	nucleus				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(1)|ovary(1)	11						AAGGAGTCGCGTTTTAATACT	0.433											OREG0003565	type=REGULATORY REGION|Gene=DONSON|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	8	58					0	0	0.27861	0	0	A	34958408	G	A	34958408	3	1	71	1	0	0	0	0	1	0	0	0	4733	1145	40	1	1250	1	DONSON	21	34958408	Missense_Mutation	SNP	G	TCGA-DU-5849-01A-11D-1705-08		34958408	13171487	41	3191											
KRTAP10-12	386685	broad.mit.edu	37	21	46117735	46117735	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-5849-01A-11D-1705-08	TCGA-DU-5849-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcde1486-c728-4841-ab69-c8cb16706fc2	189c09ae-f5aa-4b68-89d8-65eb6bc57683	g.chr21:46117735C>T	ENST00000400365.3	+	1	649	c.619C>T	c.(619-621)Cgc>Tgc	p.R207C	TSPEAR_ENST00000323084.4_Intron	NM_198699.1	NP_941972.1	P60413	KR10C_HUMAN	keratin associated protein 10-12	207	19 X 5 AA repeats of C-C-X(3).					keratin filament				large_intestine(1)|lung(8)	9						CAGACCCGCCCGCCGCGTGCC	0.716													21	60					0	0	0.654019	0	0	T	46117735	C	T	46117735	3	4	71	1	0	0	0	0	1	0	0	0	8551	652	23	1	621	1	KRTAP10-12	21	46117735	Missense_Mutation	SNP	C	TCGA-DU-5849-01A-11D-1705-08	11159327	46117735	2012160	42	3192											
DNAJB7	150353	broad.mit.edu	37	22	41257198	41257198	+	Silent	SNP	C	C	T			TCGA-DU-5849-01A-11D-1705-08	TCGA-DU-5849-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcde1486-c728-4841-ab69-c8cb16706fc2	189c09ae-f5aa-4b68-89d8-65eb6bc57683	g.chr22:41257198C>T	ENST00000307221.4	-	1	932	c.801G>A	c.(799-801)gaG>gaA	p.E267E	XPNPEP3_ENST00000541156.1_Intron|XPNPEP3_ENST00000482652.1_Intron|XPNPEP3_ENST00000414396.1_Intron|XPNPEP3_ENST00000357137.4_Intron	NM_145174.1	NP_660157.1	Q7Z6W7	DNJB7_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 7	267					protein folding		heat shock protein binding|unfolded protein binding			breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	10						ATATACCTCCCTCATCATTGT	0.423													13	85					0	0	0.435327	0	0	T	41257198	C	T	41257198	2	4	71	1	0	0	0	0	0	0	0	1	4652	680	24	2		2	DNAJB7	22	41257198	Silent	SNP	C	TCGA-DU-5849-01A-11D-1705-08		41257198	10047368	43	3193											
GAGE2D	729408	broad.mit.edu	37	X	49208295	49208296	+	In_Frame_Ins	INS	-	-	TAT			TCGA-DU-5849-01A-11D-1705-08	TCGA-DU-5849-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcde1486-c728-4841-ab69-c8cb16706fc2	189c09ae-f5aa-4b68-89d8-65eb6bc57683	g.chrX:49208295_49208296insTAT	ENST00000404720.2	+	2	96_97	c.24_25insTAT	c.(25-27)tat>TATtat	p.9_9Y>YY		NM_001098407.1|NM_012196.1	NP_001091877.1|NP_036328.1			G antigen 2D																		GAAGATCGACCTATCGGCCTAG	0.465													9	12	---	---	---	---						TAT	49208296	-	TAT	49208295	7	5	71	1	0	1	1	0	0	0	0	0	6229	668	24	0	366	0	GAGE2D	23	49208295	In_Frame_Ins	INS	-	TCGA-DU-5849-01A-11D-1705-08		49208295	106062265	44	3194											
NXF3	56000	broad.mit.edu	37	X	102338548	102338548	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-5849-01A-11D-1705-08	TCGA-DU-5849-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcde1486-c728-4841-ab69-c8cb16706fc2	189c09ae-f5aa-4b68-89d8-65eb6bc57683	g.chrX:102338548C>T	ENST00000395065.3	-	4	525	c.424G>A	c.(424-426)Gtc>Atc	p.V142I	NXF3_ENST00000425644.1_5'UTR|NXF3_ENST00000425463.2_Missense_Mutation_p.V53I	NM_022052.1	NP_071335.1	Q9H4D5	NXF3_HUMAN	nuclear RNA export factor 3	142	RRM.					cytoplasm|nuclear RNA export factor complex	nucleocytoplasmic transporter activity|nucleotide binding|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						TCAACTGGGACGAAGGGTACA	0.458													35	54					0	0	0.812448	0	0	T	102338548	C	T	102338548	3	4	71	1	0	0	0	0	1	0	0	0	10833	536	19	1	1235	1	NXF3	23	102338548	Missense_Mutation	SNP	C	TCGA-DU-5849-01A-11D-1705-08	53130253	102338548	52932012	45	3195											
ADC	113451	broad.mit.edu	37	1	33560160	33560160	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-5851-01A-13D-1893-08	TCGA-DU-5851-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c01a846-2703-42fc-86d0-4bf042d39576	3a33d274-022d-4113-bbe9-559ebc898229	g.chr1:33560160G>C	ENST00000294517.6	+	8	1186	c.599G>C	c.(598-600)gGc>gCc	p.G200A	ADC_ENST00000358680.3_Intron|ADC_ENST00000484656.1_3'UTR|ADC_ENST00000398167.1_Missense_Mutation_p.G200A|ADC_ENST00000373440.1_Intron|ADC_ENST00000373443.3_Missense_Mutation_p.G200A|ADC_ENST00000373441.1_Missense_Mutation_p.G200A	NM_052998.2	NP_443724.1	Q96A70	ADC_HUMAN	arginine decarboxylase	200					polyamine biosynthetic process|spermatogenesis	cytosol	arginine decarboxylase activity			NS(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(2)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)			L-Arginine(DB00125)|Pyridoxal Phosphate(DB00114)	TTTCACATTGGCAGTGGCTGT	0.587													24	90					0	0	0.00333	0	0	C	33560160	G	C	33560160	3	2	72	1	0	0	0	0	1	0	0	0	286	1203	42	5	617	5	ADC	1	33560160	Missense_Mutation	SNP	G	TCGA-DU-5851-01A-13D-1893-08		33560160	215690461	1	3196											
COL24A1	255631	broad.mit.edu	37	1	86590808	86590808	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-5851-01A-13D-1893-08	TCGA-DU-5851-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c01a846-2703-42fc-86d0-4bf042d39576	3a33d274-022d-4113-bbe9-559ebc898229	g.chr1:86590808G>T	ENST00000370571.2	-	3	1577	c.1211C>A	c.(1210-1212)aCa>aAa	p.T404K	COL24A1_ENST00000436319.1_Missense_Mutation_p.T404K	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	404					cell adhesion	collagen	extracellular matrix structural constituent			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		ATTAGTAATTGTATCTTGTTT	0.348													14	61					2.62699e-14	3.3601e-14	0.003163	1	0	T	86590808	G	T	86590808	3	4	72	1	0	0	0	0	1	0	0	0	3706	1377	48	5	4165	5	COL24A1	1	86590808	Missense_Mutation	SNP	G	TCGA-DU-5851-01A-13D-1893-08	53030648	86590808	162659813	2	3197											
FCGR1A	2209	broad.mit.edu	37	1	149755784	149755784	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-5851-01A-13D-1893-08	TCGA-DU-5851-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c01a846-2703-42fc-86d0-4bf042d39576	3a33d274-022d-4113-bbe9-559ebc898229	g.chr1:149755784G>A	ENST00000369168.4	+	3	332	c.278G>A	c.(277-279)aGt>aAt	p.S93N	RP11-196G18.21_ENST00000420462.1_RNA|HIST2H2BF_ENST00000545683.1_Intron	NM_000566.3	NP_000557.1	P12314	FCGR1_HUMAN	Fc fragment of IgG, high affinity Ia, receptor (CD64)	93	Ig-like C2-type 1.				interferon-gamma-mediated signaling pathway|phagocytosis, engulfment	integral to membrane|plasma membrane	IgG binding|receptor activity|receptor signaling protein activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)	10	Breast(34;0.0124)|all_hematologic(923;0.127)				Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Methyl aminolevulinate(DB00992)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Porfimer(DB00707)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	TCAGGGCGAAGTGACCCCATA	0.547													30	105					0	0	0.004289	0	0	A	149755784	G	A	149755784	3	1	72	1	0	0	0	0	1	0	0	0	5812	1029	36	2	288	2	FCGR1A	1	149755784	Missense_Mutation	SNP	G	TCGA-DU-5851-01A-13D-1893-08	63164976	149755784	99494837	3	3198											
LY9	4063	broad.mit.edu	37	1	160783602	160783602	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-5851-01A-13D-1893-08	TCGA-DU-5851-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c01a846-2703-42fc-86d0-4bf042d39576	3a33d274-022d-4113-bbe9-559ebc898229	g.chr1:160783602C>T	ENST00000368037.5	+	3	745	c.631C>T	c.(631-633)Cga>Tga	p.R211*	LY9_ENST00000368040.1_5'UTR|LY9_ENST00000263285.6_Nonsense_Mutation_p.R211*|LY9_ENST00000471816.1_3'UTR|LY9_ENST00000341032.4_Nonsense_Mutation_p.R211*|LY9_ENST00000392203.4_Nonsense_Mutation_p.R211*|LY9_ENST00000368041.2_Nonsense_Mutation_p.R171*	NM_001261456.1|NM_002348.3	NP_001248385.1|NP_002339.2	Q9HBG7	LY9_HUMAN	lymphocyte antigen 9		Ig-like C2-type 1.				cell adhesion|immunoglobulin mediated immune response	integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			TACCGTCTCCCGAACACCATG	0.572													65	266					0	0	0.00361	0	0	T	160783602	C	T	160783602	4	4	72	1	0	0	0	0	0	1	0	0	9147	644	23	1	773	1	LY9	1	160783602	Nonsense_Mutation	SNP	C	TCGA-DU-5851-01A-13D-1893-08	11027818	160783602	88467019	4	3199											
C1orf65	164127	broad.mit.edu	37	1	223568185	223568185	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-5851-01A-13D-1893-08	TCGA-DU-5851-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c01a846-2703-42fc-86d0-4bf042d39576	3a33d274-022d-4113-bbe9-559ebc898229	g.chr1:223568185C>A	ENST00000366875.3	+	1	1471	c.1368C>A	c.(1366-1368)ttC>ttA	p.F456L		NM_152610.2	NP_689823.2	Q8N715	CA065_HUMAN	chromosome 1 open reading frame 65	456										breast(4)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|skin(3)	29				GBM - Glioblastoma multiforme(131;0.0704)		AACAAAGTTTCCAGCGGTCCC	0.607													15	55					4.7546e-09	5.68485e-09	0.004007	1	0	A	223568185	C	A	223568185	3	1	72	1	0	0	0	0	1	0	0	0	2069	854	30	5	1370	5	C1orf65	1	223568185	Missense_Mutation	SNP	C	TCGA-DU-5851-01A-13D-1893-08	62784583	223568185	25682436	5	3200											
GFPT1	2673	broad.mit.edu	37	2	69554110	69554110	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-5851-01A-13D-1893-08	TCGA-DU-5851-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c01a846-2703-42fc-86d0-4bf042d39576	3a33d274-022d-4113-bbe9-559ebc898229	g.chr2:69554110C>T	ENST00000357308.4	-	19	2169	c.1991G>A	c.(1990-1992)gGc>gAc	p.G664D	GFPT1_ENST00000361060.5_Missense_Mutation_p.G646D	NM_001244710.1	NP_001231639.1	Q06210	GFPT1_HUMAN	glutamine--fructose-6-phosphate transaminase 1	664	SIS 2.				dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding			endometrium(1)|large_intestine(3)|lung(5)|skin(3)	12						GCTGAGAATGCCCTGCAAGCA	0.488													4	131					0	0	0.000602	0	0	T	69554110	C	T	69554110	3	4	72	1	0	0	0	0	1	0	0	0	6387	739	26	2	116	2	GFPT1	2	69554110	Missense_Mutation	SNP	C	TCGA-DU-5851-01A-13D-1893-08		69554110	173645263	6	3201											
FASTKD1	79675	broad.mit.edu	37	2	170428527	170428527	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-5851-01A-13D-1893-08	TCGA-DU-5851-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c01a846-2703-42fc-86d0-4bf042d39576	3a33d274-022d-4113-bbe9-559ebc898229	g.chr2:170428527G>C	ENST00000453153.2	-	2	359	c.13C>G	c.(13-15)Cct>Gct	p.P5A	FASTKD1_ENST00000453929.2_Missense_Mutation_p.P5A	NM_024622.3	NP_078898.3	Q53R41	FAKD1_HUMAN	FAST kinase domains 1	5					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(5)|large_intestine(10)|lung(9)|ovary(4)|prostate(3)	37						AGGAAAACAGGTGTTTTTTTC	0.373													10	41					0	0	0.006214	0	0	C	170428527	G	C	170428527	3	2	72	1	0	0	0	0	1	0	0	0	5718	1261	44	5	2586	5	FASTKD1	2	170428527	Missense_Mutation	SNP	G	TCGA-DU-5851-01A-13D-1893-08	100874417	170428527	72770846	7	3202											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-DU-5851-01A-13D-1893-08	TCGA-DU-5851-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c01a846-2703-42fc-86d0-4bf042d39576	3a33d274-022d-4113-bbe9-559ebc898229	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	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								25	71					0	0	0.004656	0	0	T	209113112	C	T	209113112	3	4	72	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-DU-5851-01A-13D-1893-08	38684585	209113112	34086261	8	3203											
IGSF10	285313	broad.mit.edu	37	3	151163027	151163027	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-5851-01A-13D-1893-08	TCGA-DU-5851-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c01a846-2703-42fc-86d0-4bf042d39576	3a33d274-022d-4113-bbe9-559ebc898229	g.chr3:151163027G>T	ENST00000282466.3	-	4	4741	c.4742C>A	c.(4741-4743)tCa>tAa	p.S1581*		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	1581					cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			AGCAATTTCTGAGTATGGTTT	0.438													22	187					2.37509e-13	2.96886e-13	0.001523	1	0	T	151163027	G	T	151163027	4	4	72	1	0	0	0	0	0	1	0	0	7641	1294	45	5	3189	5	IGSF10	3	151163027	Nonsense_Mutation	SNP	G	TCGA-DU-5851-01A-13D-1893-08		151163027	46859403	9	3204											
NLGN1	22871	broad.mit.edu	37	3	173997002	173997002	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-5851-01A-13D-1893-08	TCGA-DU-5851-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c01a846-2703-42fc-86d0-4bf042d39576	3a33d274-022d-4113-bbe9-559ebc898229	g.chr3:173997002A>T	ENST00000457714.1	+	6	1640	c.1211A>T	c.(1210-1212)gAt>gTt	p.D404V	NLGN1_ENST00000545397.1_Missense_Mutation_p.D404V|NLGN1_ENST00000401917.3_Missense_Mutation_p.D444V|NLGN1_ENST00000466350.1_3'UTR|NLGN1_ENST00000361589.4_Missense_Mutation_p.D404V	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	421					calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			GATAGCGATGATGGTATATCA	0.328													4	115					0	0	0.000602	0	0	T	173997002	A	T	173997002	3	4	72	1	0	0	0	0	1	0	0	0	10508	333	12	4	1225	4	NLGN1	3	173997002	Missense_Mutation	SNP	A	TCGA-DU-5851-01A-13D-1893-08	22833975	173997002	24025428	10	3205											
SLC4A4	8671	broad.mit.edu	37	4	72121038	72121038	+	Silent	SNP	A	A	C			TCGA-DU-5851-01A-13D-1893-08	TCGA-DU-5851-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c01a846-2703-42fc-86d0-4bf042d39576	3a33d274-022d-4113-bbe9-559ebc898229	g.chr4:72121038A>C	ENST00000425175.1	+	3	292	c.175A>C	c.(175-177)Aga>Cga	p.R59R	SLC4A4_ENST00000351898.6_Silent_p.R59R|SLC4A4_ENST00000514331.1_3'UTR|SLC4A4_ENST00000264485.5_Silent_p.R59R	NM_001134742.1	NP_001128214.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	59						basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)			GGAAAAGGAGAGAATCTCTGA	0.448													7	130					0	0	0.001984	0	0	C	72121038	A	C	72121038	2	2	72	1	0	0	0	0	0	0	0	1	14711	296	11	5		5	SLC4A4	4	72121038	Silent	SNP	A	TCGA-DU-5851-01A-13D-1893-08		72121038	119033238	11	3206											
CDH12	1010	broad.mit.edu	37	5	21752212	21752212	+	Silent	SNP	G	G	A			TCGA-DU-5851-01A-13D-1893-08	TCGA-DU-5851-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c01a846-2703-42fc-86d0-4bf042d39576	3a33d274-022d-4113-bbe9-559ebc898229	g.chr5:21752212G>A	ENST00000382254.1	-	15	3105	c.2019C>T	c.(2017-2019)ttC>ttT	p.F673F	RP11-804N13.1_ENST00000522350.1_RNA|CDH12_ENST00000504376.2_Silent_p.F673F|CDH12_ENST00000522262.1_Silent_p.F633F|CDH12_ENST00000521384.1_5'UTR	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	673					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						CCCCGATGTCGAAAGCCTGGG	0.463										HNSCC(59;0.17)			14	83					0	0	0.003163	0	0	A	21752212	G	A	21752212	2	1	72	1	0	0	0	0	0	0	0	1	3120	1049	37	1		1	CDH12	5	21752212	Silent	SNP	G	TCGA-DU-5851-01A-13D-1893-08		21752212	159163048	12	3207											
PLCXD3	345557	broad.mit.edu	37	5	41381990	41381990	+	Silent	SNP	G	G	T			TCGA-DU-5851-01A-13D-1893-08	TCGA-DU-5851-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c01a846-2703-42fc-86d0-4bf042d39576	3a33d274-022d-4113-bbe9-559ebc898229	g.chr5:41381990G>T	ENST00000377801.3	-	2	824	c.750C>A	c.(748-750)acC>acA	p.T250T	PLCXD3_ENST00000328457.3_Silent_p.T250T			Q63HM9	PLCX3_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 3	250					intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						TAGCTTTGGGGGTCAGCACCA	0.463													38	130					5.44703e-19	7.13301e-19	0.002222	1	0	T	41381990	G	T	41381990	2	4	72	1	0	0	0	0	0	0	0	1	12091	1219	43	5		5	PLCXD3	5	41381990	Silent	SNP	G	TCGA-DU-5851-01A-13D-1893-08	19629778	41381990	139533270	13	3208											
ERBB2IP	55914	broad.mit.edu	37	5	65349867	65349867	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DU-5851-01A-13D-1893-08	TCGA-DU-5851-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c01a846-2703-42fc-86d0-4bf042d39576	3a33d274-022d-4113-bbe9-559ebc898229	g.chr5:65349867delA	ENST00000284037.5	+	21	3110	c.2721delA	c.(2719-2721)ggafs	p.G907fs	ERBB2IP_ENST00000506030.1_Frame_Shift_Del_p.G907fs|ERBB2IP_ENST00000416865.2_Intron|ERBB2IP_ENST00000380935.1_Frame_Shift_Del_p.G907fs|ERBB2IP_ENST00000380943.2_Frame_Shift_Del_p.G907fs|ERBB2IP_ENST00000380936.1_Frame_Shift_Del_p.G907fs|ERBB2IP_ENST00000508515.1_Frame_Shift_Del_p.G907fs|ERBB2IP_ENST00000380939.2_Frame_Shift_Del_p.G907fs|ERBB2IP_ENST00000380938.2_Frame_Shift_Del_p.G907fs|ERBB2IP_ENST00000511297.1_Frame_Shift_Del_p.G903fs	NM_001253697.1	NP_001240626.1	Q96RT1	LAP2_HUMAN	erbb2 interacting protein	907					basal protein localization|cell adhesion|cell cycle|cell growth|epidermal growth factor receptor signaling pathway|establishment or maintenance of epithelial cell apical/basal polarity|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization	basement membrane|cytoplasm|hemidesmosome|nucleus	ErbB-2 class receptor binding|integrin binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2)	36		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)		CTGTTGATGGAAAAAATATAG	0.378													7	2068	---	---	---	---						-	65349867	A	-	65349867	7	5	72	1	0	1	0	1	0	0	0	0	5235	233	9	0	2795	0	ERBB2IP	5	65349867	Frame_Shift_Del	DEL	A	TCGA-DU-5851-01A-13D-1893-08	23967877	65349867	115565393	14	3209											
WWC1	23286	broad.mit.edu	37	5	167858267	167858267	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-5851-01A-13D-1893-08	TCGA-DU-5851-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c01a846-2703-42fc-86d0-4bf042d39576	3a33d274-022d-4113-bbe9-559ebc898229	g.chr5:167858267G>A	ENST00000265293.4	+	15	2600	c.2098G>A	c.(2098-2100)Gtg>Atg	p.V700M	WWC1_ENST00000521089.1_Missense_Mutation_p.V700M	NM_001161661.1|NM_001161662.1|NM_015238.2	NP_001155133.1|NP_001155134.1|NP_056053.1	Q8IX03	KIBRA_HUMAN	WW and C2 domain containing 1	700	C2.				cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|ruffle membrane	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		GAATATCCGCGTGGCTGTCCT	0.532													7	125					0	0	0.001984	0	0	A	167858267	G	A	167858267	3	1	72	1	0	0	0	0	1	0	0	0	17471	1145	40	1	2156	1	WWC1	5	167858267	Missense_Mutation	SNP	G	TCGA-DU-5851-01A-13D-1893-08	102508400	167858267	13056993	15	3210											
BTNL8	79908	broad.mit.edu	37	5	180338425	180338425	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-5851-01A-13D-1893-08	TCGA-DU-5851-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c01a846-2703-42fc-86d0-4bf042d39576	3a33d274-022d-4113-bbe9-559ebc898229	g.chr5:180338425C>T	ENST00000231229.4	+	3	718	c.484C>T	c.(484-486)Cgg>Tgg	p.R162W	BTNL8_ENST00000511704.1_Missense_Mutation_p.R46W|BTNL8_ENST00000400707.3_Missense_Mutation_p.R37W|BTNL8_ENST00000505126.1_5'UTR|BTNL8_ENST00000340184.4_Missense_Mutation_p.R162W|BTNL8_ENST00000508408.1_Missense_Mutation_p.R162W|BTNL8_ENST00000533815.2_5'UTR	NM_001159708.1|NM_024850.2	NP_001153180.1|NP_079126.1	Q6UX41	BTNL8_HUMAN	butyrophilin-like 8	162	Ig-like V-type 2.					integral to membrane				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	28	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTGGTTCCCCCGGCCCACAGC	0.527													80	358					0	0	0.00361	0	0	T	180338425	C	T	180338425	3	4	72	1	0	0	0	0	1	0	0	0	1570	643	23	1	520	1	BTNL8	5	180338425	Missense_Mutation	SNP	C	TCGA-DU-5851-01A-13D-1893-08	12480158	180338425	576835	16	3211											
HIST1H1C	3006	broad.mit.edu	37	6	26056346	26056346	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-5851-01A-13D-1893-08	TCGA-DU-5851-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c01a846-2703-42fc-86d0-4bf042d39576	3a33d274-022d-4113-bbe9-559ebc898229	g.chr6:26056346G>A	ENST00000343677.2	-	1	353	c.311C>T	c.(310-312)tCc>tTc	p.S104F		NM_005319.3	NP_005310.1	P16403	H12_HUMAN	histone cluster 1, H1c	104	H15.				nucleosome assembly	nucleosome|nucleus	DNA binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	34						GAGTTTAAAGGAGCCAGAAGC	0.527													46	164					0	0	0.00361	0	0	A	26056346	G	A	26056346	3	1	72	1	0	0	0	0	1	0	0	0	7165	1174	41	2	334	2	HIST1H1C	6	26056346	Missense_Mutation	SNP	G	TCGA-DU-5851-01A-13D-1893-08		26056346	145058721	17	3212											
SDK1	221935	broad.mit.edu	37	7	4259754	4259754	+	Silent	SNP	G	G	T			TCGA-DU-5851-01A-13D-1893-08	TCGA-DU-5851-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c01a846-2703-42fc-86d0-4bf042d39576	3a33d274-022d-4113-bbe9-559ebc898229	g.chr7:4259754G>T	ENST00000404826.2	+	39	5692	c.5553G>T	c.(5551-5553)gtG>gtT	p.V1851V	SDK1_ENST00000389531.3_Silent_p.V1831V	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1851	Fibronectin type-III 12.				cell adhesion	integral to membrane		p.V1851V(1)		NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		TGAGCAAGGTGGTGACCGTGG	0.567													22	114					5.26018e-13	6.42911e-13	0.001882	1	0	T	4259754	G	T	4259754	2	4	72	1	0	0	0	0	0	0	0	1	14022	1335	47	5		5	SDK1	7	4259754	Silent	SNP	G	TCGA-DU-5851-01A-13D-1893-08		4259754	154878909	18	3213											
RADIL	55698	broad.mit.edu	37	7	4855893	4855893	+	Silent	SNP	G	G	A			TCGA-DU-5851-01A-13D-1893-08	TCGA-DU-5851-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c01a846-2703-42fc-86d0-4bf042d39576	3a33d274-022d-4113-bbe9-559ebc898229	g.chr7:4855893G>A	ENST00000399583.3	-	8	2119	c.1932C>T	c.(1930-1932)tcC>tcT	p.S644S	RADIL_ENST00000538469.1_Silent_p.S404S|RADIL_ENST00000536091.1_3'UTR	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN	Ras association and DIL domains	644	Dilute.				cell adhesion|multicellular organismal development|signal transduction		protein binding			NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		GCAGTGTCCCGGAGAAGAAGA	0.657													16	49					0	0	0.006122	0	0	A	4855893	G	A	4855893	2	1	72	1	0	0	0	0	0	0	0	1	13049	1103	39	1		1	RADIL	7	4855893	Silent	SNP	G	TCGA-DU-5851-01A-13D-1893-08	596139	4855893	154282770	19	3214											
NRCAM	4897	broad.mit.edu	37	7	107791186	107791186	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-5851-01A-13D-1893-08	TCGA-DU-5851-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c01a846-2703-42fc-86d0-4bf042d39576	3a33d274-022d-4113-bbe9-559ebc898229	g.chr7:107791186A>C	ENST00000379022.4	-	34	4160	c.3690T>G	c.(3688-3690)ttT>ttG	p.F1230L	NRCAM_ENST00000351718.4_Intron|NRCAM_ENST00000522550.2_5'UTR|NRCAM_ENST00000379024.4_Intron|NRCAM_ENST00000425651.2_Intron|NRCAM_ENST00000413765.2_Intron|NRCAM_ENST00000379028.3_Intron			Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	0					angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						CAGAAGAAACAAATGAAAACA	0.289													10	31					0	0	0.000978	0	0	C	107791186	A	C	107791186	3	2	72	1	0	0	0	0	1	0	0	0	10692	145	5	5		5	NRCAM	7	107791186	Missense_Mutation	SNP	A	TCGA-DU-5851-01A-13D-1893-08	102935293	107791186	51347477	20	3215											
CNGB3	54714	broad.mit.edu	37	8	87683282	87683282	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-5851-01A-13D-1893-08	TCGA-DU-5851-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c01a846-2703-42fc-86d0-4bf042d39576	3a33d274-022d-4113-bbe9-559ebc898229	g.chr8:87683282G>A	ENST00000320005.5	-	4	430	c.383C>T	c.(382-384)gCc>gTc	p.A128V		NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	128					signal transduction|visual perception	integral to membrane	cGMP binding			NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						CTGGGCATCGGCATACTCATT	0.453													6	443					0	0	0.001984	0	0	A	87683282	G	A	87683282	3	1	72	1	0	0	0	0	1	0	0	0	3624	1203	42	2	2106	2	CNGB3	8	87683282	Missense_Mutation	SNP	G	TCGA-DU-5851-01A-13D-1893-08		87683282	58680740	21	3216											
GLIS3	169792	broad.mit.edu	37	9	3828287	3828287	+	Silent	SNP	G	G	C			TCGA-DU-5851-01A-13D-1893-08	TCGA-DU-5851-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c01a846-2703-42fc-86d0-4bf042d39576	3a33d274-022d-4113-bbe9-559ebc898229	g.chr9:3828287G>C	ENST00000324333.10	-	10	2506	c.2313C>G	c.(2311-2313)gtC>gtG	p.V771V	GLIS3_ENST00000381971.3_Silent_p.V926V|GLIS3_ENST00000461870.1_5'UTR	NM_152629.3	NP_689842.3	Q8NEA6	GLIS3_HUMAN	GLIS family zinc finger 3	771					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)		CTTCGGTGTAGACAGAGGAGA	0.562													11	29					0	0	0.000978	0	0	C	3828287	G	C	3828287	2	2	72	1	0	0	0	0	0	0	0	1	6489	929	33	4		4	GLIS3	9	3828287	Silent	SNP	G	TCGA-DU-5851-01A-13D-1893-08		3828287	137385144	22	3217											
PPIF	10105	broad.mit.edu	37	10	81113478	81113478	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-5851-01A-13D-1893-08	TCGA-DU-5851-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c01a846-2703-42fc-86d0-4bf042d39576	3a33d274-022d-4113-bbe9-559ebc898229	g.chr10:81113478T>C	ENST00000394579.3	+	5	506	c.428T>C	c.(427-429)aTg>aCg	p.M143T	PPIF_ENST00000225174.3_Silent_p.H168H			P30405	PPIF_HUMAN	peptidylprolyl isomerase F	0	PPIase cyclophilin-type.				protein folding	membrane fraction|mitochondrial matrix	peptidyl-prolyl cis-trans isomerase activity			endometrium(2)|lung(2)|skin(2)	6	all_cancers(46;0.0893)|Breast(12;8.52e-05)|all_epithelial(25;0.00449)|Prostate(51;0.00985)		Epithelial(14;0.00242)|all cancers(16;0.0069)|Colorectal(32;0.229)		Dimethyl sulfoxide(DB01093)|L-Proline(DB00172)	ATGGCAAGCATGTTGTGTTCG	0.502													37	132					0	0	0.002852	0	0	C	81113478	T	C	81113478	3	2	72	1	0	0	0	0	1	0	0	0	12372	1461	51	3	526	3	PPIF	10	81113478	Missense_Mutation	SNP	T	TCGA-DU-5851-01A-13D-1893-08		81113478	54421269	23	3218											
CTR9	9646	broad.mit.edu	37	11	10783517	10783517	+	Silent	SNP	C	C	T			TCGA-DU-5851-01A-13D-1893-08	TCGA-DU-5851-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c01a846-2703-42fc-86d0-4bf042d39576	3a33d274-022d-4113-bbe9-559ebc898229	g.chr11:10783517C>T	ENST00000361367.2	+	7	1191	c.765C>T	c.(763-765)gtC>gtT	p.V255V		NM_014633.3	NP_055448.1	Q6PD62	CTR9_HUMAN	CTR9, Paf1/RNA polymerase II complex component	255					histone H2B ubiquitination|histone monoubiquitination	Cdc73/Paf1 complex|nuclear speck				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|pancreas(1)|stomach(1)	40				all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		AAAATGGTGTCCAGCTTCTTT	0.343													10	55					0	0	0.000978	0	0	T	10783517	C	T	10783517	2	4	72	1	0	0	0	0	0	0	0	1	4048	842	30	2		2	CTR9	11	10783517	Silent	SNP	C	TCGA-DU-5851-01A-13D-1893-08		10783517	124222999	24	3219											
SYTL2	54843	broad.mit.edu	37	11	85436182	85436182	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-5851-01A-13D-1893-08	TCGA-DU-5851-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c01a846-2703-42fc-86d0-4bf042d39576	3a33d274-022d-4113-bbe9-559ebc898229	g.chr11:85436182C>T	ENST00000359152.5	-	1	2889	c.2890G>A	c.(2890-2892)Gta>Ata	p.V964I	SYTL2_ENST00000525423.1_Missense_Mutation_p.V440I|SYTL2_ENST00000524452.1_Intron|SYTL2_ENST00000316356.4_Intron|SYTL2_ENST00000389960.4_Intron|SYTL2_ENST00000527523.1_Intron|SYTL2_ENST00000528231.1_Intron|SYTL2_ENST00000354566.3_Missense_Mutation_p.V440I	NM_206928.2	NP_996811.1	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2	0					intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		GGGCTACATACTGGCTGTACT	0.463													20	86					0	0	0.002299	0	0	T	85436182	C	T	85436182	3	4	72	1	0	0	0	0	1	0	0	0	15540	565	20	2	2552	2	SYTL2	11	85436182	Missense_Mutation	SNP	C	TCGA-DU-5851-01A-13D-1893-08	74652665	85436182	49570334	25	3220											
PYGL	5836	broad.mit.edu	37	14	51378916	51378916	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-5851-01A-13D-1893-08	TCGA-DU-5851-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c01a846-2703-42fc-86d0-4bf042d39576	3a33d274-022d-4113-bbe9-559ebc898229	g.chr14:51378916G>A	ENST00000216392.7	-	14	2058	c.1726C>T	c.(1726-1728)Cga>Tga	p.R576*	PYGL_ENST00000532462.1_Nonsense_Mutation_p.R576*|PYGL_ENST00000544180.2_Nonsense_Mutation_p.R542*	NM_002863.4	NP_002854.3	P06737	PYGL_HUMAN	phosphorylase, glycogen, liver	576					glucose homeostasis|glucose metabolic process|glycogen catabolic process	cytosol|soluble fraction	AMP binding|ATP binding|bile acid binding|drug binding|glucose binding|glycogen phosphorylase activity|protein homodimerization activity|purine base binding|pyridoxal phosphate binding			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(3)	25	all_epithelial(31;0.00825)|Breast(41;0.148)				Adenosine monophosphate(DB00131)|Pyridoxal Phosphate(DB00114)|Riboflavin(DB00140)	AAGAGCTGTCGCTTGTACTCA	0.493													6	238					0	0	0.001168	0	0	A	51378916	G	A	51378916	4	1	72	1	0	0	0	0	0	1	0	0	12913	1095	38	1	845	1	PYGL	14	51378916	Nonsense_Mutation	SNP	G	TCGA-DU-5851-01A-13D-1893-08		51378916	55970624	26	3221											
SYNJ2BP	55333	broad.mit.edu	37	14	70842422	70842422	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-5851-01A-13D-1893-08	TCGA-DU-5851-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c01a846-2703-42fc-86d0-4bf042d39576	3a33d274-022d-4113-bbe9-559ebc898229	g.chr14:70842422A>G	ENST00000256366.4	-	3	349	c.268T>C	c.(268-270)Tat>Cat	p.Y90H	SYNJ2BP_ENST00000554216.1_5'UTR|SYNJ2BP-COX16_ENST00000555276.1_RNA	NM_018373.2	NP_060843.2			synaptojanin 2 binding protein											central_nervous_system(1)|kidney(2)|large_intestine(1)|upper_aerodigestive_tract(1)	5				all cancers(60;0.00367)|BRCA - Breast invasive adenocarcinoma(234;0.00716)|OV - Ovarian serous cystadenocarcinoma(108;0.0377)		GACACAGCATAGCCTGCATTA	0.473													6	195					0	0	0.001984	0	0	G	70842422	A	G	70842422	3	3	72	1	0	0	0	0	1	0	0	0	15511	420	15	3	177	3	SYNJ2BP	14	70842422	Missense_Mutation	SNP	A	TCGA-DU-5851-01A-13D-1893-08	19463506	70842422	36507118	27	3222											
AHNAK2	113146	broad.mit.edu	37	14	105413659	105413659	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-5851-01A-13D-1893-08	TCGA-DU-5851-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c01a846-2703-42fc-86d0-4bf042d39576	3a33d274-022d-4113-bbe9-559ebc898229	g.chr14:105413659C>T	ENST00000333244.5	-	7	8248	c.8129G>A	c.(8128-8130)gGc>gAc	p.G2710D	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2710						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			ATCCACCTGGCCAGCCTGGAC	0.607													88	234					0	0	0.00361	0	0	T	105413659	C	T	105413659	3	4	72	1	0	0	0	0	1	0	0	0	412	739	26	2	9262	2	AHNAK2	14	105413659	Missense_Mutation	SNP	C	TCGA-DU-5851-01A-13D-1893-08	34571237	105413659	1935881	28	3223											
GPR176	11245	broad.mit.edu	37	15	40093791	40093791	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-5851-01A-13D-1893-08	TCGA-DU-5851-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c01a846-2703-42fc-86d0-4bf042d39576	3a33d274-022d-4113-bbe9-559ebc898229	g.chr15:40093791G>A	ENST00000299092.3	-	4	1285	c.1087C>T	c.(1087-1089)Cgc>Tgc	p.R363C	GPR176_ENST00000561100.1_Missense_Mutation_p.R364C|GPR176_ENST00000543580.1_Missense_Mutation_p.R319C	NM_001271854.1|NM_001271855.1	NP_001258783.1|NP_001258784.1	Q14439	GP176_HUMAN	G protein-coupled receptor 176	364					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity			central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(9)|ovary(2)|pancreas(1)|skin(2)	23		all_cancers(109;4.05e-15)|all_epithelial(112;2.96e-13)|Lung NSC(122;8.53e-11)|all_lung(180;2.71e-09)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;4.4e-06)|BRCA - Breast invasive adenocarcinoma(123;0.123)		CTACCCGAGCGTATGCTGGGT	0.567													4	164					0	0	0.000248	0	0	A	40093791	G	A	40093791	3	1	72	1	0	0	0	0	1	0	0	0	6713	1145	40	1	461	1	GPR176	15	40093791	Missense_Mutation	SNP	G	TCGA-DU-5851-01A-13D-1893-08		40093791	62437601	29	3224											
TP53	7157	broad.mit.edu	37	17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	rs121913343		TCGA-DU-5851-01A-13D-1893-08	TCGA-DU-5851-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c01a846-2703-42fc-86d0-4bf042d39576	3a33d274-022d-4113-bbe9-559ebc898229	g.chr17:7577121G>A	ENST00000420246.2	-	8	949	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000269305.4_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000359597.4_Missense_Mutation_p.R273C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	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).		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.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			17	19					0	0	0.004007	0	0	A	7577121	G	A	7577121	3	1	72	1	0	0	0	0	1	0	0	0	16442	1087	38	1	469	1	TP53	17	7577121	Missense_Mutation	SNP	G	TCGA-DU-5851-01A-13D-1893-08		7577121	73618089	30	3225											
SERPINB12	89777	broad.mit.edu	37	18	61225658	61225658	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-5851-01A-13D-1893-08	TCGA-DU-5851-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c01a846-2703-42fc-86d0-4bf042d39576	3a33d274-022d-4113-bbe9-559ebc898229	g.chr18:61225658A>T	ENST00000382768.1	+	2	242	c.242A>T	c.(241-243)aAa>aTa	p.K81I	SERPINB12_ENST00000269491.1_Splice_Site_p.K81I			Q96P63	SPB12_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 12	81					negative regulation of protein catabolic process|regulation of proteolysis	cytoplasm	enzyme binding|serine-type endopeptidase inhibitor activity			kidney(1)|large_intestine(5)|lung(19)|skin(1)	26						AACAAACAAAAAGTGCTGGCT	0.463													23	76					0	0	0.004656	0	0	T	61225658	A	T	61225658	3	4	72	1	0	0	0	0	1	0	0	0	14153	28	1	5	248	5	SERPINB12	18	61225658	Missense_Mutation	SNP	A	TCGA-DU-5851-01A-13D-1893-08		61225658	16851590	31	3226											
MXRA5	25878	broad.mit.edu	37	X	3240116	3240116	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-5851-01A-13D-1893-08	TCGA-DU-5851-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c01a846-2703-42fc-86d0-4bf042d39576	3a33d274-022d-4113-bbe9-559ebc898229	g.chrX:3240116C>T	ENST00000217939.6	-	5	3764	c.3610G>A	c.(3610-3612)Gct>Act	p.A1204T		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	1204						extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				TCCACCCAAGCTGTAGGAACC	0.458													5	182					0	0	0.000602	0	0	T	3240116	C	T	3240116	3	4	72	1	0	0	0	0	1	0	0	0	10051	797	28	2	4888	2	MXRA5	23	3240116	Missense_Mutation	SNP	C	TCGA-DU-5851-01A-13D-1893-08		3240116	152030444	32	3227											
ZC3H12B	340554	broad.mit.edu	37	X	64719804	64719804	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-5851-01A-13D-1893-08	TCGA-DU-5851-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c01a846-2703-42fc-86d0-4bf042d39576	3a33d274-022d-4113-bbe9-559ebc898229	g.chrX:64719804G>T	ENST00000338957.4	+	4	1092	c.1025G>T	c.(1024-1026)aGc>aTc	p.S342I	ZC3H12B_ENST00000423889.3_Missense_Mutation_p.S331I	NM_001010888.3	NP_001010888.3	Q5HYM0	ZC12B_HUMAN	zinc finger CCCH-type containing 12B	331							endonuclease activity|nucleic acid binding|zinc ion binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CACGGCCCAAGCCTTGAAAAT	0.443													59	261					1.42676e-28	1.91395e-28	0.00361	1	0	T	64719804	G	T	64719804	3	4	72	1	0	0	0	0	1	0	0	0	17621	971	34	4	1039	4	ZC3H12B	23	64719804	Missense_Mutation	SNP	G	TCGA-DU-5851-01A-13D-1893-08	61479688	64719804	90550756	33	3228											
RLIM	51132	broad.mit.edu	37	X	73811938	73811938	+	Silent	SNP	G	G	C	rs61754468	by1000genomes	TCGA-DU-5851-01A-13D-1893-08	TCGA-DU-5851-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c01a846-2703-42fc-86d0-4bf042d39576	3a33d274-022d-4113-bbe9-559ebc898229	g.chrX:73811938G>C	ENST00000332687.6	-	4	1430	c.1212C>G	c.(1210-1212)acC>acG	p.T404T	RLIM_ENST00000349225.2_Silent_p.T404T	NM_016120.3	NP_057204.2	Q9NVW2	RNF12_HUMAN	ring finger protein, LIM domain interacting	404					random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|transcriptional repressor complex	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding	p.T404T(6)		breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GCCTTAACATGGTCTGAATTG	0.413													4	157					0	0	0.000248	0	0	C	73811938	G	C	73811938	2	2	72	1	0	0	0	0	0	0	0	1	13442	1335	47	5		5	RLIM	23	73811938	Silent	SNP	G	TCGA-DU-5851-01A-13D-1893-08	9092134	73811938	81458622	34	3229											
ATRX	546	broad.mit.edu	37	X	76939056	76939060	+	Frame_Shift_Del	DEL	ATTTA	ATTTA	-			TCGA-DU-5851-01A-13D-1893-08	TCGA-DU-5851-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c01a846-2703-42fc-86d0-4bf042d39576	3a33d274-022d-4113-bbe9-559ebc898229	g.chrX:76939056_76939060delATTTA	ENST00000373344.5	-	9	1902_1906	c.1688_1692delTAAAT	c.(1687-1692)ttaaatfs	p.LN563fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.LN525fs	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	563					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)	TTGAAGAAATATTTAATTTTACAGA	0.351			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						75	356	---	---	---	---						-	76939060	ATTTA	-	76939056	7	5	72	1	0	1	0	1	0	0	0	0	1206	446	16	0	5894	0	ATRX	23	76939056	Frame_Shift_Del	DEL	ATTTA	TCGA-DU-5851-01A-13D-1893-08	3127118	76939056	78331504	35	3230											
COL4A5	1287	broad.mit.edu	37	X	107840717	107840717	+	Silent	SNP	T	T	C	rs143442986		TCGA-DU-5851-01A-13D-1893-08	TCGA-DU-5851-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c01a846-2703-42fc-86d0-4bf042d39576	3a33d274-022d-4113-bbe9-559ebc898229	g.chrX:107840717T>C	ENST00000328300.6	+	24	1942	c.1698T>C	c.(1696-1698)ccT>ccC	p.P566P	COL4A5_ENST00000361603.2_Silent_p.P566P	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	566	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						TGGGTTCCCCTGGAGCTCCAG	0.537									Alport syndrome with Diffuse Leiomyomatosis				6	96					0	0	0.001984	0	0	C	107840717	T	C	107840717	2	2	72	1	0	0	0	0	0	0	0	1	3717	1567	55	3		3	COL4A5	23	107840717	Silent	SNP	T	TCGA-DU-5851-01A-13D-1893-08	30901661	107840717	47429843	36	3231											
SAGE1	55511	broad.mit.edu	37	X	134988650	134988650	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-5851-01A-13D-1893-08	TCGA-DU-5851-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c01a846-2703-42fc-86d0-4bf042d39576	3a33d274-022d-4113-bbe9-559ebc898229	g.chrX:134988650C>T	ENST00000535938.1	+	7	843	c.676C>T	c.(676-678)Cga>Tga	p.R226*	SAGE1_ENST00000370709.3_Nonsense_Mutation_p.R226*|SAGE1_ENST00000537770.1_Intron|SAGE1_ENST00000324447.3_Nonsense_Mutation_p.R226*	NM_018666.2	NP_061136.2	Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	226										breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55	Acute lymphoblastic leukemia(192;0.000127)					GTTGACTCTTCGACCACGGCG	0.428													11	287					0	0	0.000978	0	0	T	134988650	C	T	134988650	4	4	72	1	0	0	0	0	0	1	0	0	13861	876	31	1	698	1	SAGE1	23	134988650	Nonsense_Mutation	SNP	C	TCGA-DU-5851-01A-13D-1893-08	27147933	134988650	20281910	37	3232											
NRD1	4898	broad.mit.edu	37	1	52301821	52301821	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr1:52301821C>T	ENST00000354831.7	-	5	1087	c.898G>A	c.(898-900)Gca>Aca	p.A300T	NRD1_ENST00000544028.1_Missense_Mutation_p.A100T|NRD1_ENST00000539524.1_Missense_Mutation_p.A168T|NRD1_ENST00000352171.7_Missense_Mutation_p.A232T|NRD1_ENST00000485608.1_5'UTR	NM_002525.2	NP_002516.2	O43847	NRDC_HUMAN	nardilysin (N-arginine dibasic convertase)	231					cell migration|cell proliferation|neuromuscular junction development|positive regulation of membrane protein ectodomain proteolysis|proteolysis|regulation of endopeptidase activity	cell surface|cytosol	epidermal growth factor binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)	27						AAAAAGTGTGCCAGCCCCGGC	0.418													3	32					0	0	1	0	0	T	52301821	C	T	52301821	3	4	73	1	0	0	0	0	1	0	0	0	10693	739	26	2	2877	2	NRD1	1	52301821	Missense_Mutation	SNP	C	TCGA-DU-5852-01A-11D-1705-08		52301821	196948800	1	3233											
ABCA4	24	broad.mit.edu	37	1	94486867	94486867	+	Silent	SNP	G	G	A	rs61750159		TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr1:94486867G>A	ENST00000370225.3	-	35	5033	c.4947C>T	c.(4945-4947)ccC>ccT	p.P1649P		NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	1649					phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		CATACTCCTCGGGGCTCCTGT	0.557													47	84					0	0	1	0	0	A	94486867	G	A	94486867	2	1	73	1	0	0	0	0	0	0	0	1	34	1103	39	1		1	ABCA4	1	94486867	Silent	SNP	G	TCGA-DU-5852-01A-11D-1705-08	42185046	94486867	154763754	2	3234											
PPM1J	333926	broad.mit.edu	37	1	113252867	113252867	+	Missense_Mutation	SNP	C	C	T	rs113935705	byFrequency	TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr1:113252867C>T	ENST00000464951.1	-	11	2226	c.818G>A	c.(817-819)cGt>cAt	p.R273H	PPM1J_ENST00000309276.6_Missense_Mutation_p.R479H|RP11-426L16.10_ENST00000606505.1_Intron|RP11-426L16.10_ENST00000471038.2_Intron|PPM1J_ENST00000359994.4_Missense_Mutation_p.R273H			Q5JR12	PPM1J_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1J	479	PP2C-like.									breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	14	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTTGGGGAGACGCCAGCCACG	0.622													34	64					0	0	1	0	0	T	113252867	C	T	113252867	3	4	73	1	0	0	0	0	1	0	0	0	12391	536	19	1	85	1	PPM1J	1	113252867	Missense_Mutation	SNP	C	TCGA-DU-5852-01A-11D-1705-08	18766000	113252867	135997754	3	3235											
AIM2	9447	broad.mit.edu	37	1	159032502	159032504	+	In_Frame_Del	DEL	TAA	TAA	-			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr1:159032502_159032504delTAA	ENST00000368130.4	-	6	1298_1300	c.1010_1012delTTA	c.(1009-1014)attaag>aag	p.I337del		NM_004833.1	NP_004824.1	O14862	AIM2_HUMAN	absent in melanoma 2	337	HIN-200.				cellular response to drug|immune response|interleukin-1 beta secretion	mitochondrion|nucleus				breast(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(1)	16	all_hematologic(112;0.0429)					TTTTTGGCCTTAATAACCTGGAT	0.399													17	54	---	---	---	---						-	159032504	TAA	-	159032502	7	5	73	1	0	1	0	1	0	0	0	0	429	1763	61	0	23	0	AIM2	1	159032502	In_Frame_Del	DEL	TAA	TCGA-DU-5852-01A-11D-1705-08	45779635	159032502	90218119	4	3236											
SLAMF7	57823	broad.mit.edu	37	1	160719612	160719612	+	Splice_Site	SNP	G	G	A			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr1:160719612G>A	ENST00000368043.3	+	3	415	c.378G>A	c.(376-378)gaG>gaA	p.E126E	SLAMF7_ENST00000441662.2_Intron|SLAMF7_ENST00000458602.2_Splice_Site_p.E19E|SLAMF7_ENST00000444090.2_Intron|SLAMF7_ENST00000458104.2_Splice_Site_p.E19E|SLAMF7_ENST00000359331.4_Splice_Site_p.E126E|SLAMF7_ENST00000368042.3_Splice_Site_p.E19E	NM_001282595.1|NM_021181.3	NP_001269524.1|NP_067004.3	Q9NQ25	SLAF7_HUMAN	SLAM family member 7	126					cell adhesion|natural killer cell activation|natural killer cell mediated cytotoxicity	integral to membrane	receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(4)	24	all_cancers(52;2.63e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			CTCTCACAGAGCACCTGTCAA	0.493													51	84					0	0	1	0	0	A	160719612	G	A	160719612	5	1	73	1	0	0	0	0	0	0	1	0	14424	985	34	2	388	2	SLAMF7	1	160719612	Splice_Site	SNP	G	TCGA-DU-5852-01A-11D-1705-08	1687110	160719612	88531009	5	3237											
F5	2153	broad.mit.edu	37	1	169512193	169512193	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr1:169512193C>T	ENST00000367796.3	-	13	2351	c.2150G>A	c.(2149-2151)cGt>cAt	p.R717H	F5_ENST00000367797.3_Missense_Mutation_p.R712H			P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	712	B.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	AGGTTCTAAACGATCATGCAT	0.403													75	147					0	0	1	0	0	T	169512193	C	T	169512193	3	4	73	1	0	0	0	0	1	0	0	0	5376	536	19	1	4591	1	F5	1	169512193	Missense_Mutation	SNP	C	TCGA-DU-5852-01A-11D-1705-08	8792581	169512193	79738428	6	3238											
SLC35F3	148641	broad.mit.edu	37	1	234041367	234041367	+	Missense_Mutation	SNP	C	C	T	rs146928346		TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr1:234041367C>T	ENST00000366618.3	+	2	291	c.146C>T	c.(145-147)gCg>gTg	p.A49V		NM_173508.2	NP_775779.1	Q8IY50	S35F3_HUMAN	solute carrier family 35, member F3	0					transport	integral to membrane				breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|urinary_tract(1)	32	Ovarian(103;0.0454)	all_cancers(173;0.145)|Prostate(94;0.0885)	OV - Ovarian serous cystadenocarcinoma(106;0.00531)			GTGGACGAGGCGATTAAGGAG	0.647													18	43					0	0	1	0	0	T	234041367	C	T	234041367	3	4	73	1	0	0	0	0	1	0	0	0	14645	768	27	1	152	1	SLC35F3	1	234041367	Missense_Mutation	SNP	C	TCGA-DU-5852-01A-11D-1705-08	64529174	234041367	15209254	7	3239											
OR14C36	127066	broad.mit.edu	37	1	248512354	248512354	+	Missense_Mutation	SNP	C	C	T	rs145207343		TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr1:248512354C>T	ENST00000317861.1	+	1	278	c.278C>T	c.(277-279)gCg>gTg	p.A93V		NM_001001918.1	NP_001001918.1	Q8NHC7	O14CZ_HUMAN	olfactory receptor, family 14, subfamily C, member 36	93					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A93E(1)		central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(2)|lung(20)|ovary(2)|prostate(3)|skin(7)|upper_aerodigestive_tract(2)	43						ATTTCTAAGGCGGGATGTGTA	0.473													21	29					0	0	1	0	0	T	248512354	C	T	248512354	3	4	73	1	0	0	0	0	1	0	0	0	10994	768	27	1	280	1	OR14C36	1	248512354	Missense_Mutation	SNP	C	TCGA-DU-5852-01A-11D-1705-08	14470987	248512354	738267	8	3240											
USP34	9736	broad.mit.edu	37	2	61468710	61468710	+	Silent	SNP	C	C	T			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr2:61468710C>T	ENST00000398571.2	-	53	6838	c.6762G>A	c.(6760-6762)tcG>tcA	p.S2254S		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	2254					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			GTAACTCTGACGAAACATCAA	0.328													12	26					0	0	1	0	0	T	61468710	C	T	61468710	2	4	73	1	0	0	0	0	0	0	0	1	17125	523	19	1		1	USP34	2	61468710	Silent	SNP	C	TCGA-DU-5852-01A-11D-1705-08		61468710	181730663	9	3241											
PAX8	7849	broad.mit.edu	37	2	114002201	114002201	+	Splice_Site	SNP	C	C	A			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr2:114002201C>A	ENST00000429538.3	-	4	386	c.192G>T	c.(190-192)agG>agT	p.R64S	AC016683.6_ENST00000553869.2_RNA|PAX8_ENST00000348715.5_Splice_Site_p.R64S|AC016683.6_ENST00000445745.1_RNA|AC016683.6_ENST00000451179.1_RNA|AC016683.6_ENST00000556070.1_RNA|PAX8_ENST00000263334.5_Splice_Site_p.R64S|AC016683.6_ENST00000422956.2_RNA|PAX8_ENST00000397647.3_Splice_Site_p.R64S|AC016683.6_ENST00000436293.2_RNA|PAX8_ENST00000263335.7_Splice_Site_p.R64S|AC016683.6_ENST00000333145.5_RNA	NM_003466.3	NP_003457.1	Q06710	PAX8_HUMAN	paired box 8	64	Paired.				branching involved in ureteric bud morphogenesis|cellular response to gonadotropin stimulus|central nervous system development|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesonephros development|metanephric collecting duct development|metanephric comma-shaped body morphogenesis|metanephric distal convoluted tubule development|metanephric nephron tubule formation|metanephric S-shaped body morphogenesis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|otic vesicle development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric field specification|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of thyroid-stimulating hormone secretion|thyroid gland development|transcription, DNA-dependent	nucleoplasm	protein binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|thyroid-stimulating hormone receptor activity		PAX8/PPARG(117)	breast(1)|endometrium(4)|kidney(2)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|skin(1)	20						TCTCGTAGTACCTACTCCAAT	0.552			T	PPARG	follicular thyroid		Thyroid dysgenesis						29	109					2.08457e-15	2.22904e-15	1	1	0	A	114002201	C	A	114002201	5	1	73	1	0	0	0	0	0	0	1	0	11532	521	18	5	1071	5	PAX8	2	114002201	Splice_Site	SNP	C	TCGA-DU-5852-01A-11D-1705-08	52533491	114002201	129197172	10	3242											
HRH1	3269	broad.mit.edu	37	3	11301013	11301013	+	Missense_Mutation	SNP	G	G	A	rs139664451	byFrequency	TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr3:11301013G>A	ENST00000397056.1	+	3	481	c.290G>A	c.(289-291)cGt>cAt	p.R97H	HRH1_ENST00000438284.2_Missense_Mutation_p.R97H|HRH1_ENST00000431010.2_Missense_Mutation_p.R97H	NM_000861.3|NM_001098211.1	NP_000852.1|NP_001091681.1	P35367	HRH1_HUMAN	histamine receptor H1	97					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|inflammatory response	cytoplasm|integral to plasma membrane|nucleus	histamine receptor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25					Aceprometazine(DB01615)|Astemizole(DB00637)|Azatadine(DB00719)|Azelastine(DB00972)|Benzquinamide(DB00767)|Bepotastine(DB04890)|Bromodiphenhydramine(DB01237)|Brompheniramine(DB00835)|Buclizine(DB00354)|Carbinoxamine(DB00748)|Cetirizine(DB00341)|Chlophedianol(DB04837)|Chlorpheniramine(DB01114)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clemastine(DB00283)|Clozapine(DB00363)|Cyclizine(DB01176)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexbrompheniramine(DB00405)|Dimenhydrinate(DB00985)|Diphenhydramine(DB01075)|Diphenylpyraline(DB01146)|Doxepin(DB01142)|Doxylamine(DB00366)|Emedastine(DB01084)|Epinastine(DB00751)|Fexofenadine(DB00950)|Flunarizine(DB04841)|Histamine Phosphate(DB00667)|Hydroxyzine(DB00557)|Ketotifen(DB00920)|Levocabastine(DB01106)|Loratadine(DB00455)|Maprotiline(DB00934)|Meclizine(DB00737)|Mequitazine(DB01071)|Methdilazine(DB00902)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Nedocromil(DB00716)|Olanzapine(DB00334)|Olopatadine(DB00768)|Orphenadrine(DB01173)|Pemirolast(DB00885)|Phenindamine(DB01619)|Pheniramine(DB01620)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Terfenadine(DB00342)|Thiethylperazine(DB00372)|Trazodone(DB00656)|Trimeprazine(DB01246)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Ziprasidone(DB00246)	TCACTGGGCCGTCCTCTCTGC	0.552													88	103					0	0	1	0	0	A	11301013	G	A	11301013	3	1	73	1	0	0	0	0	1	0	0	0	7396	1145	40	1	292	1	HRH1	3	11301013	Missense_Mutation	SNP	G	TCGA-DU-5852-01A-11D-1705-08		11301013	186721417	11	3243											
PBRM1	55193	broad.mit.edu	37	3	52651430	52651430	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr3:52651430G>A	ENST00000356770.4	-	13	1572	c.1570C>T	c.(1570-1572)Cct>Tct	p.P524S	PBRM1_ENST00000409767.1_Missense_Mutation_p.P571S|PBRM1_ENST00000409114.3_Missense_Mutation_p.P571S|PBRM1_ENST00000410007.1_Missense_Mutation_p.P556S|PBRM1_ENST00000394830.3_Missense_Mutation_p.P556S|PBRM1_ENST00000296302.7_Missense_Mutation_p.P556S|PBRM1_ENST00000409057.1_Missense_Mutation_p.P556S|PBRM1_ENST00000337303.4_Missense_Mutation_p.P556S			Q86U86	PB1_HUMAN	polybromo 1	556					chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		TAATAATCAGGATAGTCCTTT	0.363			"Mis, N, F, S, D, O"		"clear cell renal carcinoma, breast"								22	38					0	0	1	0	0	A	52651430	G	A	52651430	3	1	73	1	0	0	0	0	1	0	0	0	11538	1174	41	2	3302	2	PBRM1	3	52651430	Missense_Mutation	SNP	G	TCGA-DU-5852-01A-11D-1705-08	41350417	52651430	145371000	12	3244											
BRD2	6046	broad.mit.edu	37	6	32947789	32947789	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr6:32947789T>A	ENST00000395289.2	+	12	3732	c.2131T>A	c.(2131-2133)Tta>Ata	p.L711I	BRD2_ENST00000374831.4_Missense_Mutation_p.L676I|BRD2_ENST00000443797.2_Missense_Mutation_p.L556I|BRD2_ENST00000374825.4_Missense_Mutation_p.L676I|BRD2_ENST00000449085.2_Missense_Mutation_p.L629I|BRD2_ENST00000395287.1_Missense_Mutation_p.L711I			P25440	BRD2_HUMAN	bromodomain containing 2	676	ET.				spermatogenesis	nucleus	protein serine/threonine kinase activity			central_nervous_system(3)|stomach(2)	5						GGAGCCCTCTTTACGTGATTC	0.483													14	33					0	0	1	0	0	A	32947789	T	A	32947789	3	1	73	1	0	0	0	0	1	0	0	0	1504	1838	64	5	2064	5	BRD2	6	32947789	Missense_Mutation	SNP	T	TCGA-DU-5852-01A-11D-1705-08		32947789	138167278	13	3245											
PACSIN1	29993	broad.mit.edu	37	6	34498365	34498365	+	Splice_Site	SNP	G	G	A			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr6:34498365G>A	ENST00000538621.1	+	8	1282		c.e8+1		PACSIN1_ENST00000244458.2_Splice_Site|PACSIN1_ENST00000374043.2_Splice_Site	NM_001199583.2	NP_001186512.1	Q9BY11	PACN1_HUMAN	protein kinase C and casein kinase substrate in neurons 1						endocytosis		protein kinase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)	13						ACCGCGGCAGGTGAGTGCCTC	0.582													9	10					0	0	1	0	0	A	34498365	G	A	34498365	5	1	73	1	0	0	0	0	0	0	1	0	11421	1275	44	2	1064	2	PACSIN1	6	34498365	Splice_Site	SNP	G	TCGA-DU-5852-01A-11D-1705-08	1550576	34498365	136616702	14	3246											
GPR115	221393	broad.mit.edu	37	6	47680159	47680159	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr6:47680159C>T	ENST00000283303.2	+	5	625	c.367C>T	c.(367-369)Cga>Tga	p.R123*	GPR115_ENST00000327753.3_Nonsense_Mutation_p.R123*|GPR115_ENST00000371220.1_Nonsense_Mutation_p.R180*	NM_153838.3	NP_722580.3	Q8IZF3	GP115_HUMAN	G protein-coupled receptor 115	123					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.R123*(1)		NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	52						TCTAGACTTTCGAGCTCCAGA	0.423													50	113					0	0	1	0	0	T	47680159	C	T	47680159	4	4	73	1	0	0	0	0	0	1	0	0	6672	876	31	1	381	1	GPR115	6	47680159	Nonsense_Mutation	SNP	C	TCGA-DU-5852-01A-11D-1705-08	13181794	47680159	123434908	15	3247											
FILIP1	27145	broad.mit.edu	37	6	76024624	76024624	+	Silent	SNP	C	C	T			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr6:76024624C>T	ENST00000393004.2	-	5	1145	c.924G>A	c.(922-924)tcG>tcA	p.S308S	FILIP1_ENST00000370020.1_Silent_p.S209S|FILIP1_ENST00000237172.7_Silent_p.S308S|FILIP1_ENST00000498523.1_5'UTR			Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	308										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						GAGAAAACCTCGAAGCCTTGT	0.418													57	83					0	0	1	0	0	T	76024624	C	T	76024624	2	4	73	1	0	0	0	0	0	0	0	1	5927	871	31	1		1	FILIP1	6	76024624	Silent	SNP	C	TCGA-DU-5852-01A-11D-1705-08	28344465	76024624	95090443	16	3248											
HACE1	57531	broad.mit.edu	37	6	105232863	105232863	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr6:105232863G>A	ENST00000262903.4	-	12	1682	c.1406C>T	c.(1405-1407)cCg>cTg	p.P469L	HACE1_ENST00000369125.2_Missense_Mutation_p.P469L	NM_020771.3	NP_065822.2	Q8IYU2	HACE1_HUMAN	HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1	469					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	endoplasmic reticulum	ubiquitin-protein ligase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	44		all_cancers(87;6.89e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0216)|Colorectal(196;0.202)		BRCA - Breast invasive adenocarcinoma(108;0.122)|Epithelial(106;0.204)		TTCTTACCCCGGAGGCATCTG	0.348													21	36					0	0	1	0	0	A	105232863	G	A	105232863	3	1	73	1	0	0	0	0	1	0	0	0	6981	1116	39	1	1375	1	HACE1	6	105232863	Missense_Mutation	SNP	G	TCGA-DU-5852-01A-11D-1705-08	29208239	105232863	65882204	17	3249											
SLC35F1	222553	broad.mit.edu	37	6	118635328	118635328	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr6:118635328A>C	ENST00000360388.4	+	8	1341	c.1140A>C	c.(1138-1140)ttA>ttC	p.L380F		NM_001029858.3	NP_001025029.2	Q5T1Q4	S35F1_HUMAN	solute carrier family 35, member F1	380					transport	integral to membrane				breast(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(226;0.217)		TTGTGGACTTACCGACCACAG	0.597													30	54					0	0	1	0	0	C	118635328	A	C	118635328	3	2	73	1	0	0	0	0	1	0	0	0	14643	388	14	5	1170	5	SLC35F1	6	118635328	Missense_Mutation	SNP	A	TCGA-DU-5852-01A-11D-1705-08	13402465	118635328	52479739	18	3250											
COBL	23242	broad.mit.edu	37	7	51287614	51287614	+	Silent	SNP	T	T	G	rs145775268	by1000genomes	TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr7:51287614T>G	ENST00000395542.2	-	2	253	c.69A>C	c.(67-69)ccA>ccC	p.P23P	COBL_ENST00000395540.2_Silent_p.P23P|COBL_ENST00000265136.7_Silent_p.P23P|COBL_ENST00000441453.1_Silent_p.P23P			O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	23	Poly-Pro.									NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					TTCCAGGAGGTGGGGGAGCAC	0.552													6	25					0	0	1	0	0	G	51287614	T	G	51287614	2	3	73	1	0	0	0	0	0	0	0	1	3676	1683	59	5		5	COBL	7	51287614	Silent	SNP	T	TCGA-DU-5852-01A-11D-1705-08		51287614	107851049	19	3251											
EGFR	1956	broad.mit.edu	37	7	55221710	55221710	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr7:55221710C>T	ENST00000275493.2	+	7	931	c.754C>T	c.(754-756)Cgc>Tgc	p.R252C	EGFR_ENST00000420316.2_Missense_Mutation_p.R252C|EGFR_ENST00000442591.1_Missense_Mutation_p.R252C|EGFR_ENST00000342916.3_Missense_Mutation_p.R252C|EGFR_ENST00000454757.2_Missense_Mutation_p.R199C|EGFR_ENST00000344576.2_Missense_Mutation_p.R252C|EGFR_ENST00000455089.1_Missense_Mutation_p.R207C	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	252					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.R252C(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	ATAGGTCTGCCGCAAATTCCG	0.582		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			40	140					0	0	1	0	0	T	55221710	C	T	55221710	3	4	73	1	0	0	0	0	1	0	0	0	4993	652	23	1	780	1	EGFR	7	55221710	Missense_Mutation	SNP	C	TCGA-DU-5852-01A-11D-1705-08	3934096	55221710	103916953	20	3252											
EGFR	1956	broad.mit.edu	37	7	55268101	55268101	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr7:55268101A>T	ENST00000275493.2	+	24	3118	c.2941A>T	c.(2941-2943)Att>Ttt	p.I981F	EGFR_ENST00000442591.1_Intron|EGFR_ENST00000454757.2_Missense_Mutation_p.I928F|EGFR_ENST00000455089.1_Missense_Mutation_p.I936F	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	981					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	CTACCTTGTCATTCAGGTACA	0.517		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			25	1274					0	0	1	0	0	T	55268101	A	T	55268101	3	4	73	1	0	0	0	0	1	0	0	0	4993	217	8	4	3299	4	EGFR	7	55268101	Missense_Mutation	SNP	A	TCGA-DU-5852-01A-11D-1705-08	46391	55268101	103870562	21	3253											
AUTS2	26053	broad.mit.edu	37	7	70231260	70231260	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr7:70231260C>A	ENST00000342771.4	+	9	1950	c.1629C>A	c.(1627-1629)ttC>ttA	p.F543L	AUTS2_ENST00000406775.2_Missense_Mutation_p.F543L	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	543	His-rich.									breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		agcacacCTTCACGCCGTTCC	0.657													15	17					0.000422831	0.000434912	1	1	0	A	70231260	C	A	70231260	3	1	73	1	0	0	0	0	1	0	0	0	1223	825	29	5	1808	5	AUTS2	7	70231260	Missense_Mutation	SNP	C	TCGA-DU-5852-01A-11D-1705-08	14963159	70231260	88907403	22	3254											
STAG3	10734	broad.mit.edu	37	7	99795727	99795727	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr7:99795727G>A	ENST00000426455.1	+	12	1589	c.1182G>A	c.(1180-1182)atG>atA	p.M394I	STAG3_ENST00000394018.2_Missense_Mutation_p.M336I|STAG3_ENST00000317296.5_Missense_Mutation_p.M394I|STAG3_ENST00000440830.1_3'UTR	NM_001282716.1	NP_001269645.1	Q9UJ98	STAG3_HUMAN	stromal antigen 3	394	SCD.				chromosome segregation|synaptonemal complex assembly	chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex	binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	66	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TGGTTTCCATGGTCATGGACA	0.463													22	49					0	0	1	0	0	A	99795727	G	A	99795727	3	1	73	1	0	0	0	0	1	0	0	0	15300	1348	47	2	1224	2	STAG3	7	99795727	Missense_Mutation	SNP	G	TCGA-DU-5852-01A-11D-1705-08	29564467	99795727	59342936	23	3255											
CUL1	8454	broad.mit.edu	37	7	148451085	148451085	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr7:148451085G>A	ENST00000325222.4	+	3	437	c.158G>A	c.(157-159)tGt>tAt	p.C53Y	CUL1_ENST00000602748.1_Missense_Mutation_p.C53Y|CUL1_ENST00000409469.1_Missense_Mutation_p.C53Y	NM_003592.2	NP_003583.2	Q13616	CUL1_HUMAN	cullin 1	53					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein ubiquitination|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytosol|nucleoplasm|SCF ubiquitin ligase complex	ubiquitin protein ligase binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(10)|liver(2)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	40	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			TATAACTACTGTACTAGTGTT	0.403													12	22					0	0	1	0	0	A	148451085	G	A	148451085	3	1	73	1	0	0	0	0	1	0	0	0	4077	1377	48	2	164	2	CUL1	7	148451085	Missense_Mutation	SNP	G	TCGA-DU-5852-01A-11D-1705-08	48655358	148451085	10687578	24	3256											
LETM2	137994	broad.mit.edu	37	8	38250441	38250441	+	Silent	SNP	C	C	T			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr8:38250441C>T	ENST00000519476.2	+	3	729	c.429C>T	c.(427-429)gaC>gaT	p.D143D	LETM2_ENST00000523983.2_Silent_p.D96D|LETM2_ENST00000297720.5_Silent_p.D96D|LETM2_ENST00000379957.4_Silent_p.D143D|LETM2_ENST00000524874.1_Silent_p.D143D			Q2VYF4	LETM2_HUMAN	leucine zipper-EF-hand containing transmembrane protein 2	143	LETM1.					integral to membrane|mitochondrial inner membrane				NS(1)|large_intestine(1)|lung(3)|prostate(2)	7	all_cancers(2;6.77e-47)|all_epithelial(2;1.01e-50)|all_lung(3;1.25e-23)|Lung NSC(2;2.76e-23)|Colorectal(12;0.000442)|Esophageal squamous(3;0.00202)	all_lung(54;0.0657)|Hepatocellular(245;0.152)|Lung NSC(58;0.175)	Epithelial(3;1.17e-42)|all cancers(3;5.44e-38)|BRCA - Breast invasive adenocarcinoma(5;5.44e-27)|LUSC - Lung squamous cell carcinoma(2;7.12e-25)|Lung(2;4.49e-22)|COAD - Colon adenocarcinoma(9;0.114)			TTTGGATTGACGCCAAAGTTG	0.393													21	43					0	0	1	0	0	T	38250441	C	T	38250441	2	4	73	1	0	0	0	0	0	0	0	1	8774	535	19	1		1	LETM2	8	38250441	Silent	SNP	C	TCGA-DU-5852-01A-11D-1705-08		38250441	108113581	25	3257											
DCAF4L2	138009	broad.mit.edu	37	8	88885200	88885200	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr8:88885200G>C	ENST00000319675.3	-	1	1096	c.1000C>G	c.(1000-1002)Cag>Gag	p.Q334E		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	334										breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						TAGCAGTCCTGGCCCACGGCC	0.572													17	35					0	0	1	0	0	C	88885200	G	C	88885200	3	2	73	1	0	0	0	0	1	0	0	0	4296	1357	47	5	191	5	DCAF4L2	8	88885200	Missense_Mutation	SNP	G	TCGA-DU-5852-01A-11D-1705-08	50634759	88885200	57478822	26	3258											
SLC45A4	57210	broad.mit.edu	37	8	142228890	142228890	+	Silent	SNP	G	G	A			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr8:142228890G>A	ENST00000519067.1	-	4	999	c.696C>T	c.(694-696)ttC>ttT	p.F232F	SLC45A4_ENST00000024061.3_Silent_p.F232F|SLC45A4_ENST00000517878.1_Silent_p.F283F|SLC45A4_ENST00000433583.2_Silent_p.F225F			Q5BKX6	S45A4_HUMAN	solute carrier family 45, member 4	283					transport	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			CCTCGTCTGGGAAGGCAGGGA	0.677													26	82					0	0	1	0	0	A	142228890	G	A	142228890	2	1	73	1	0	0	0	0	0	0	0	1	14698	1165	41	2		2	SLC45A4	8	142228890	Silent	SNP	G	TCGA-DU-5852-01A-11D-1705-08	53343690	142228890	4135132	27	3259											
SECISBP2	79048	broad.mit.edu	37	9	91954798	91954798	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr9:91954798A>G	ENST00000375807.3	+	9	1303	c.1232A>G	c.(1231-1233)aAc>aGc	p.N411S	SECISBP2_ENST00000534113.2_Missense_Mutation_p.N343S|SECISBP2_ENST00000339901.4_Missense_Mutation_p.N338S	NM_001282688.1|NM_001282690.1|NM_024077.3	NP_001269617.1|NP_001269619.1|NP_076982.3	Q96T21	SEBP2_HUMAN	SECIS binding protein 2	411					translation	nucleus	mRNA 3'-UTR binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(3)|skin(2)	32						GAATTTCCCAACCTGGCAGTT	0.398													12	78					0	0	1	0	0	G	91954798	A	G	91954798	3	3	73	1	0	0	0	0	1	0	0	0	14060	43	2	3	1266	3	SECISBP2	9	91954798	Missense_Mutation	SNP	A	TCGA-DU-5852-01A-11D-1705-08		91954798	49258633	28	3260											
YME1L1	10730	broad.mit.edu	37	10	27411836	27411836	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr10:27411836C>A	ENST00000326799.3	-	12	1488	c.1340G>T	c.(1339-1341)aGa>aTa	p.R447I	YME1L1_ENST00000375972.3_Missense_Mutation_p.R357I|YME1L1_ENST00000376016.3_Missense_Mutation_p.R390I	NM_139312.2	NP_647473.1	Q96TA2	YMEL1_HUMAN	YME1-like 1 ATPase	447					protein catabolic process|proteolysis	membrane|mitochondrion	ATP binding|metal ion binding|metalloendopeptidase activity|nucleoside-triphosphatase activity	p.R447I(1)		breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23						AGATTCAATTCTCTTCCCACC	0.348													29	22					5.77227e-19	6.23405e-19	1	1	0	A	27411836	C	A	27411836	3	1	73	1	0	0	0	0	1	0	0	0	17547	913	32	4	1017	4	YME1L1	10	27411836	Missense_Mutation	SNP	C	TCGA-DU-5852-01A-11D-1705-08		27411836	108122911	29	3261											
RET	5979	broad.mit.edu	37	10	43595972	43595972	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr10:43595972G>A	ENST00000355710.3	+	2	371	c.139G>A	c.(139-141)Ggc>Agc	p.G47S	RET_ENST00000340058.5_Missense_Mutation_p.G47S	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	47					homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Sunitinib(DB01268)	CCAGGCAGCCGGCACGCCCTT	0.627		1	"T, Mis, N, F"	"H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"	"medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"	"medullary thyroid,  papillary thyroid, pheochromocytoma"	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma				26	7					0	0	1	0	0	A	43595972	G	A	43595972	3	1	73	1	0	0	0	0	1	0	0	0	13287	1116	39	1	145	1	RET	10	43595972	Missense_Mutation	SNP	G	TCGA-DU-5852-01A-11D-1705-08	16184136	43595972	91938775	30	3262											
C10orf71	118461	broad.mit.edu	37	10	50531225	50531225	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr10:50531225C>T	ENST00000374144.3	+	3	923	c.635C>T	c.(634-636)cCa>cTa	p.P212L	C10orf71_ENST00000323868.4_Missense_Mutation_p.P212L			Q711Q0	CJ071_HUMAN	chromosome 10 open reading frame 71	212										endometrium(1)	1						AGCTACCAGCCAGGCAGGAAG	0.547													5	10					0	0	1	0	0	T	50531225	C	T	50531225	3	4	73	1	0	0	0	0	1	0	0	0	1618	594	21	2	637	2	C10orf71	10	50531225	Missense_Mutation	SNP	C	TCGA-DU-5852-01A-11D-1705-08	6935253	50531225	85003522	31	3263											
COL17A1	1308	broad.mit.edu	37	10	105803313	105803313	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr10:105803313C>T	ENST00000353479.5	-	35	2751	c.2461G>A	c.(2461-2463)Ggc>Agc	p.G821S	COL17A1_ENST00000369733.3_Missense_Mutation_p.G821S	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN	collagen, type XVII, alpha 1	821	Triple-helical region.				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		CCTGGGGGGCCTGGGACAGTG	0.572													20	7					0	0	1	0	0	T	105803313	C	T	105803313	3	4	73	1	0	0	0	0	1	0	0	0	3697	681	24	2	2120	2	COL17A1	10	105803313	Missense_Mutation	SNP	C	TCGA-DU-5852-01A-11D-1705-08	55272088	105803313	29731434	32	3264											
MUC5B	727897	broad.mit.edu	37	11	1268697	1268697	+	Silent	SNP	C	C	T			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr11:1268697C>T	ENST00000447027.1	+	31	10654	c.10596C>T	c.(10594-10596)acC>acT	p.T3532T	MUC5B_ENST00000529681.1_Silent_p.T3529T|RP11-532E4.2_ENST00000532061.2_RNA			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3529	7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398).	cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GGACGACCACCCCGGGCCACA	0.687													22	43					0	0	1	0	0	T	1268697	C	T	1268697	2	4	73	1	0	0	0	0	0	0	0	1	10027	610	22	2		2	MUC5B	11	1268697	Silent	SNP	C	TCGA-DU-5852-01A-11D-1705-08		1268697	133737819	33	3265											
OR51A4	401666	broad.mit.edu	37	11	4967723	4967723	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr11:4967723A>G	ENST00000380373.2	-	1	633	c.608T>C	c.(607-609)tTt>tCt	p.F203S	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001005329.1	NP_001005329.1	Q8NGJ6	O51A4_HUMAN	olfactory receptor, family 51, subfamily A, member 4	203					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|lung(15)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		GAGTGCTCCAAAAAAGCCATA	0.418													23	56					0	0	1	0	0	G	4967723	A	G	4967723	3	3	73	1	0	0	0	0	1	0	0	0	11135	14	1	3	335	3	OR51A4	11	4967723	Missense_Mutation	SNP	A	TCGA-DU-5852-01A-11D-1705-08	3699026	4967723	130038793	34	3266											
POLR2G	5436	broad.mit.edu	37	11	62530370	62530370	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr11:62530370G>A	ENST00000301788.7	+	3	259	c.154G>A	c.(154-156)Gac>Aac	p.D52N		NM_002696.2	NP_002687.1	P62487	RPB7_HUMAN	polymerase (RNA) II (DNA directed) polypeptide G	52					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA-directed RNA polymerase activity|protein binding|RNA binding			lung(3)	3						CACCACCATTGACAATATTGG	0.468													33	63					0	0	1	0	0	A	62530370	G	A	62530370	3	1	73	1	0	0	0	0	1	0	0	0	12268	1290	45	2	164	2	POLR2G	11	62530370	Missense_Mutation	SNP	G	TCGA-DU-5852-01A-11D-1705-08	57562647	62530370	72476146	35	3267											
SLC22A10	387775	broad.mit.edu	37	11	63064782	63064782	+	Nonsense_Mutation	SNP	C	C	T	rs111381363		TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr11:63064782C>T	ENST00000544661.1	+	4	477	c.49C>T	c.(49-51)Cga>Tga	p.R17*	SLC22A10_ENST00000332793.6_Nonsense_Mutation_p.R172*|SLC22A10_ENST00000535888.1_5'UTR|SLC22A10_ENST00000525620.1_3'UTR|SLC22A10_ENST00000526800.1_Intron			Q63ZE4	S22AA_HUMAN	solute carrier family 22, member 10	172						integral to membrane	transmembrane transporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CAGGTTTGGGCGAAGATTTAT	0.398													38	58					0	0	1	0	0	T	63064782	C	T	63064782	4	4	73	1	0	0	0	0	0	1	0	0	14496	760	27	1	524	1	SLC22A10	11	63064782	Nonsense_Mutation	SNP	C	TCGA-DU-5852-01A-11D-1705-08	534412	63064782	71941734	36	3268											
DPP3	10072	broad.mit.edu	37	11	66276620	66276620	+	Silent	SNP	C	C	T			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr11:66276620C>T	ENST00000532677.1	+	18	2570	c.2169C>T	c.(2167-2169)ttC>ttT	p.F723F	DPP3_ENST00000530165.1_Silent_p.F674F|DPP3_ENST00000541961.1_Silent_p.F704F|DPP3_ENST00000531863.1_Silent_p.F724F|DPP3_ENST00000453114.1_Silent_p.F704F|CTD-3074O7.11_ENST00000419755.3_5'UTR|DPP3_ENST00000360510.2_Silent_p.F704F	NM_001256670.1|NM_005700.4|NM_130443.3	NP_001243599.1|NP_005691.2|NP_569710.2	Q9NY33	DPP3_HUMAN	dipeptidyl-peptidase 3	704					proteolysis	cytoplasm	aminopeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)	23						CTGAGCGTTTCCCAGAGGATG	0.602													21	32					0	0	1	0	0	T	66276620	C	T	66276620	2	4	73	1	0	0	0	0	0	0	0	1	4754	854	30	2		2	DPP3	11	66276620	Silent	SNP	C	TCGA-DU-5852-01A-11D-1705-08	3211838	66276620	68729896	37	3269											
GAB2	9846	broad.mit.edu	37	11	77931439	77931439	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr11:77931439G>A	ENST00000361507.4	-	9	1898	c.1813C>T	c.(1813-1815)Cct>Tct	p.P605S	GAB2_ENST00000340149.2_Missense_Mutation_p.P567S	NM_080491.2	NP_536739.1	Q9UQC2	GAB2_HUMAN	GRB2-associated binding protein 2	605					osteoclast differentiation|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mast cell degranulation	cytosol|plasma membrane	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|transmembrane receptor protein tyrosine kinase adaptor activity		INTS4/GAB2(2)	NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(14;3.31e-18)|all_epithelial(13;5.3e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.58e-23)			CTCTTCTTAGGGGCAGGACTG	0.577													26	37					0	0	1	0	0	A	77931439	G	A	77931439	3	1	73	1	0	0	0	0	1	0	0	0	6184	1232	43	2	225	2	GAB2	11	77931439	Missense_Mutation	SNP	G	TCGA-DU-5852-01A-11D-1705-08	11654819	77931439	57075077	38	3270											
HTR3A	3359	broad.mit.edu	37	11	113860240	113860240	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr11:113860240C>T	ENST00000504030.2	+	9	1637	c.1192C>T	c.(1192-1194)Ccg>Tcg	p.P398S	HTR3A_ENST00000506841.2_Missense_Mutation_p.P430S|HTR3A_ENST00000299961.5_Missense_Mutation_p.P383S|HTR3A_ENST00000355556.2_Missense_Mutation_p.P436S|HTR3A_ENST00000375498.2_Missense_Mutation_p.P404S|HTR3A_ENST00000535865.1_Missense_Mutation_p.P142S			P46098	5HT3A_HUMAN	5-hydroxytryptamine (serotonin) receptor 3A, ionotropic	398					digestion|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199)	CGAGAAGAGCCCGAGGGACAG	0.637													38	54					0	0	1	0	0	T	113860240	C	T	113860240	3	4	73	1	0	0	0	0	1	0	0	0	7488	623	22	2	1362	2	HTR3A	11	113860240	Missense_Mutation	SNP	C	TCGA-DU-5852-01A-11D-1705-08	35928801	113860240	21146276	39	3271											
OR6M1	390261	broad.mit.edu	37	11	123676254	123676254	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr11:123676254G>C	ENST00000309154.2	-	1	841	c.804C>G	c.(802-804)gaC>gaG	p.D268E		NM_001005325.1	NP_001005325.1	Q8NGM8	OR6M1_HUMAN	olfactory receptor, family 6, subfamily M, member 1	268					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(2)|skin(5)|urinary_tract(1)	29		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.028)		CGGCCACCTTGTCATAATCCA	0.488													29	54					0	0	1	0	0	C	123676254	G	C	123676254	3	2	73	1	0	0	0	0	1	0	0	0	11252	1368	48	5	140	5	OR6M1	11	123676254	Missense_Mutation	SNP	G	TCGA-DU-5852-01A-11D-1705-08	9816014	123676254	11330262	40	3272											
GDF3	9573	broad.mit.edu	37	12	7843233	7843233	+	Silent	SNP	G	G	A			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr12:7843233G>A	ENST00000329913.3	-	2	383	c.336C>T	c.(334-336)aaC>aaT	p.N112N		NM_020634.1	NP_065685.1	Q9NR23	GDF3_HUMAN	growth differentiation factor 3	112					eye development|growth|skeletal system development	extracellular space	cytokine activity|growth factor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						TGGCAGACAGGTTAAAGTAGA	0.478													18	42					0	0	1	0	0	A	7843233	G	A	7843233	2	1	73	1	0	0	0	0	0	0	0	1	6357	1252	44	2		2	GDF3	12	7843233	Silent	SNP	G	TCGA-DU-5852-01A-11D-1705-08		7843233	126008662	41	3273											
DPPA3	359787	broad.mit.edu	37	12	7867929	7867929	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr12:7867929G>A	ENST00000345088.2	+	2	350	c.233G>A	c.(232-234)tGg>tAg	p.W78*		NM_199286.2	NP_954980.1	Q6W0C5	DPPA3_HUMAN	developmental pluripotency associated 3	78						cytoplasm|nucleus				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(2)	8				Kidney(36;0.0887)		GAAGATGAGTGGCTTTACAGC	0.478													13	24					0	0	1	0	0	A	7867929	G	A	7867929	4	1	73	1	0	0	0	0	0	1	0	0	4761	1357	47	2	239	2	DPPA3	12	7867929	Nonsense_Mutation	SNP	G	TCGA-DU-5852-01A-11D-1705-08	24696	7867929	125983966	42	3274											
STAT6	6778	broad.mit.edu	37	12	57501513	57501513	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr12:57501513C>T	ENST00000300134.3	-	3	455	c.130G>A	c.(130-132)Ggc>Agc	p.G44S	STAT6_ENST00000556155.1_Missense_Mutation_p.G44S|STAT6_ENST00000538913.2_Intron|STAT6_ENST00000454075.3_Missense_Mutation_p.G44S|STAT6_ENST00000543873.2_Missense_Mutation_p.G44S|STAT6_ENST00000537215.2_5'UTR	NM_001178078.1|NM_003153.4	NP_001171549.1|NP_003144.3	P42226	STAT6_HUMAN	signal transducer and activator of transcription 6, interleukin-4 induced	44					regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	p.G44S(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	28						GCGTCGGAGCCGACCAGGAAC	0.602													11	29					0	0	1	0	0	T	57501513	C	T	57501513	3	4	73	1	0	0	0	0	1	0	0	0	15326	652	23	1	2493	1	STAT6	12	57501513	Missense_Mutation	SNP	C	TCGA-DU-5852-01A-11D-1705-08	49633584	57501513	76350382	43	3275											
YLPM1	56252	broad.mit.edu	37	14	75230628	75230628	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr14:75230628C>A	ENST00000325680.7	+	1	560	c.436C>A	c.(436-438)Ccc>Acc	p.P146T	YLPM1_ENST00000238571.3_Missense_Mutation_p.P146T|YLPM1_ENST00000552421.1_Missense_Mutation_p.P146T	NM_019589.2	NP_062535.2	P49750	YLPM1_HUMAN	YLP motif containing 1	146	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck				breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		GCTGGAATCCCCCCCTGAATC	0.612													3	10					1	1	1	1	0	A	75230628	C	A	75230628	3	1	73	1	0	0	0	0	1	0	0	0	17546	623	22	5	438	5	YLPM1	14	75230628	Missense_Mutation	SNP	C	TCGA-DU-5852-01A-11D-1705-08		75230628	32118912	44	3276											
UBL7	84993	broad.mit.edu	37	15	74751068	74751068	+	Silent	SNP	A	A	G			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr15:74751068A>G	ENST00000567435.1	-	2	604	c.141T>C	c.(139-141)atT>atC	p.I47I	UBL7_ENST00000564488.1_Silent_p.I47I|UBL7_ENST00000565335.1_Silent_p.I47I|UBL7_ENST00000361351.4_Silent_p.I47I|UBL7_ENST00000395081.2_Silent_p.I47I			Q96S82	UBL7_HUMAN	ubiquitin-like 7 (bone marrow stromal cell-derived)	47	Ubiquitin-like.						protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9						GTTTGCCAGCAATAAGCTGCT	0.502													8	125					0	0	1	0	0	G	74751068	A	G	74751068	2	3	73	1	0	0	0	0	0	0	0	1	16951	126	5	3		3	UBL7	15	74751068	Silent	SNP	A	TCGA-DU-5852-01A-11D-1705-08		74751068	27780324	45	3277											
KIAA1199	57214	broad.mit.edu	37	15	81181824	81181824	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr15:81181824C>T	ENST00000394685.3	+	10	1396	c.977C>T	c.(976-978)aCg>aTg	p.T326M	KIAA1199_ENST00000220244.3_Missense_Mutation_p.T326M|KIAA1199_ENST00000356249.5_Missense_Mutation_p.T326M			Q8WUJ3	K1199_HUMAN	KIAA1199	326								p.T326M(1)		breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						GTGGAGTGGACGGAGTGGTTC	0.483													23	47					0	0	1	0	0	T	81181824	C	T	81181824	3	4	73	1	0	0	0	0	1	0	0	0	8255	536	19	1	1007	1	KIAA1199	15	81181824	Missense_Mutation	SNP	C	TCGA-DU-5852-01A-11D-1705-08	6430756	81181824	21349568	46	3278											
SLCO3A1	28232	broad.mit.edu	37	15	92706193	92706193	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr15:92706193G>A	ENST00000318445.6	+	10	2175	c.1961G>A	c.(1960-1962)cGc>cAc	p.R654H	SLCO3A1_ENST00000555549.1_3'UTR|RP11-24J19.1_ENST00000557683.1_RNA|SLCO3A1_ENST00000424469.2_Missense_Mutation_p.R654H|RP11-152L20.3_ENST00000561674.1_RNA	NM_013272.3	NP_037404.2	Q9UIG8	SO3A1_HUMAN	solute carrier organic anion transporter family, member 3A1	654					sodium-independent organic anion transport	integral to membrane|plasma membrane	sodium-independent organic anion transmembrane transporter activity	p.R654H(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	25	Lung NSC(78;0.0158)|all_lung(78;0.0255)		BRCA - Breast invasive adenocarcinoma(143;0.0841)			AACTATAAACGCTACATCAAA	0.547													26	36					0	0	1	0	0	A	92706193	G	A	92706193	3	1	73	1	0	0	0	0	1	0	0	0	14783	1087	38	1	1999	1	SLCO3A1	15	92706193	Missense_Mutation	SNP	G	TCGA-DU-5852-01A-11D-1705-08	11524369	92706193	9825199	47	3279											
SLC12A3	6559	broad.mit.edu	37	16	56928468	56928468	+	Silent	SNP	C	C	T			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr16:56928468C>T	ENST00000438926.2	+	22	2603	c.2574C>T	c.(2572-2574)ctC>ctT	p.L858L	SLC12A3_ENST00000262502.5_Silent_p.L848L|SLC12A3_ENST00000566786.1_Silent_p.L857L|SLC12A3_ENST00000563236.1_Silent_p.L849L	NM_000339.2|NM_001126107.1|NM_001126108.1	NP_000330|NP_001119579.1|NP_001119580.1	P55017	S12A3_HUMAN	solute carrier family 12 (sodium/chloride transporter), member 3	849					sodium ion transmembrane transport	apical plasma membrane|integral to plasma membrane|membrane fraction	sodium:chloride symporter activity			breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	TTCCCTATCTCCTTGGCCGCA	0.557													7	9					0	0	1	0	0	T	56928468	C	T	56928468	2	4	73	1	0	0	0	0	0	0	0	1	14439	842	30	2		2	SLC12A3	16	56928468	Silent	SNP	C	TCGA-DU-5852-01A-11D-1705-08		56928468	33426285	48	3280											
NUDT7	283927	broad.mit.edu	37	16	77775636	77775636	+	Missense_Mutation	SNP	G	G	A	rs35294368		TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr16:77775636G>A	ENST00000268533.5	+	4	575	c.506G>A	c.(505-507)cGt>cAt	p.R169H	NUDT7_ENST00000563839.1_3'UTR|RP11-264M12.2_ENST00000563690.1_RNA|NUDT7_ENST00000564031.1_3'UTR|NUDT7_ENST00000564085.1_3'UTR|NUDT7_ENST00000437314.3_Missense_Mutation_p.R116H	NM_001105663.2	NP_001099133.1	P0C024	NUDT7_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 7	169	Nudix hydrolase.				nucleoside diphosphate metabolic process	peroxisome	hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides|magnesium ion binding|manganese ion binding			breast(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|skin(1)	18						CTTGGTCACCGTTTTATTAAT	0.473													24	38					0	0	1	0	0	A	77775636	G	A	77775636	3	1	73	1	0	0	0	0	1	0	0	0	10792	1145	40	1	520	1	NUDT7	16	77775636	Missense_Mutation	SNP	G	TCGA-DU-5852-01A-11D-1705-08	20847168	77775636	12579117	49	3281											
CDH13	1012	broad.mit.edu	37	16	83250986	83250986	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr16:83250986C>T	ENST00000566620.1	+	5	810	c.520C>T	c.(520-522)Cgg>Tgg	p.R174W	CDH13_ENST00000428848.3_Missense_Mutation_p.R135W|CDH13_ENST00000569454.1_3'UTR|CDH13_ENST00000268613.10_Missense_Mutation_p.R221W	NM_001220488.1|NM_001220489.1|NM_001220490.1|NM_001257.4	NP_001207417.1|NP_001207418.1|NP_001207419.1|NP_001248.1	P55290	CAD13_HUMAN	cadherin 13	174	Cadherin 1.				adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|Rac protein signal transduction|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|Rho protein signal transduction|sprouting angiogenesis	anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection	adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding			large_intestine(1)	1		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)		COAD - Colon adenocarcinoma(5;0.0268)		GTCCAAGTTCCGGCTCACTGG	0.463													23	32					0	0	1	0	0	T	83250986	C	T	83250986	3	4	73	1	0	0	0	0	1	0	0	0	3121	643	23	1	538	1	CDH13	16	83250986	Missense_Mutation	SNP	C	TCGA-DU-5852-01A-11D-1705-08	5475350	83250986	7103767	50	3282											
OVCA2	124641	broad.mit.edu	37	17	1946242	1946242	+	Silent	SNP	G	G	A			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr17:1946242G>A	ENST00000572195.1	+	2	543	c.528G>A	c.(526-528)ggG>ggA	p.G176G	DPH1_ENST00000570477.1_3'UTR|RP11-667K14.4_ENST00000572404.1_RNA|DPH1_ENST00000263083.6_3'UTR	NM_080822.2	NP_543012.1	Q8WZ82	OVCA2_HUMAN	ovarian tumor suppressor candidate 2	176					response to retinoic acid	cytoplasm	hydrolase activity										ATGTTTTTGGGGACACTGACA	0.547											OREG0024078	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	30	46					0	0	1	0	0	A	1946242	G	A	1946242	2	1	73	1	0	0	0	0	0	0	0	1	11369	1219	43	2		2	OVCA2	17	1946242	Silent	SNP	G	TCGA-DU-5852-01A-11D-1705-08		1946242	79248968	51	3283											
RANGRF	29098	broad.mit.edu	37	17	8192897	8192897	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr17:8192897A>G	ENST00000407006.4	+	4	563	c.428A>G	c.(427-429)aAt>aGt	p.N143S	RANGRF_ENST00000226105.6_Missense_Mutation_p.N143S|SLC25A35_ENST00000396278.1_3'UTR|RANGRF_ENST00000439238.3_3'UTR|SLC25A35_ENST00000579192.1_3'UTR|SLC25A35_ENST00000380067.2_3'UTR|RANGRF_ENST00000580434.1_Intron|SLC25A35_ENST00000580340.1_3'UTR	NM_001177801.1|NM_001177802.1	NP_001171272.1|NP_001171273.1	Q9HD47	MOG1_HUMAN	RAN guanine nucleotide release factor	143					protein transport	cytoplasm|nucleus	guanyl-nucleotide exchange factor activity			endometrium(1)	1						CTTACCTTCAATCAGCCCCCG	0.567													17	36					0	0	1	0	0	G	8192897	A	G	8192897	3	3	73	1	0	0	0	0	1	0	0	0	13086	101	4	3	526	3	RANGRF	17	8192897	Missense_Mutation	SNP	A	TCGA-DU-5852-01A-11D-1705-08	6246655	8192897	73002313	52	3284											
MYOCD	93649	broad.mit.edu	37	17	12656007	12656007	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr17:12656007G>A	ENST00000425538.1	+	10	1602	c.1402G>A	c.(1402-1404)Gct>Act	p.A468T	MYOCD_ENST00000395988.1_3'UTR|MYOCD_ENST00000343344.4_Missense_Mutation_p.A468T|AC005358.1_ENST00000609971.1_Missense_Mutation_p.A372T	NM_001146312.1|NM_153604.2	NP_001139784.1|NP_705832.1	Q8IZQ8	MYCD_HUMAN	myocardin	468	Ser-rich.				cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding	p.A468T(1)		breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		CCTGTCAGTCGCTGGGTCCCT	0.627													23	44					0	0	1	0	0	A	12656007	G	A	12656007	3	1	73	1	0	0	0	0	1	0	0	0	10135	1087	38	1	1440	1	MYOCD	17	12656007	Missense_Mutation	SNP	G	TCGA-DU-5852-01A-11D-1705-08	4463110	12656007	68539203	53	3285											
SREBF1	6720	broad.mit.edu	37	17	17721591	17721591	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr17:17721591G>A	ENST00000355815.4	-	7	1425	c.1256C>T	c.(1255-1257)aCt>aTt	p.T419I	SREBF1_ENST00000338854.5_Missense_Mutation_p.T389I|SREBF1_ENST00000395757.1_Missense_Mutation_p.T135I|SREBF1_ENST00000261646.5_Missense_Mutation_p.T389I|SREBF1_ENST00000435530.2_Missense_Mutation_p.T389I	NM_001005291.2	NP_001005291.1	P36956	SRBP1_HUMAN	sterol regulatory element binding transcription factor 1	389	Interaction with LMNA (By similarity).				cellular response to starvation|cholesterol metabolic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter	endoplasmic reticulum|endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleus	protein binding|sequence-specific DNA binding transcription factor activity|sterol response element binding			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	14						GTGGACAGCAGTGCGCAGACT	0.547													13	52					0	0	1	0	0	A	17721591	G	A	17721591	3	1	73	1	0	0	0	0	1	0	0	0	15197	1029	36	2	2333	2	SREBF1	17	17721591	Missense_Mutation	SNP	G	TCGA-DU-5852-01A-11D-1705-08	5065584	17721591	63473619	54	3286											
FAM83G	644815	broad.mit.edu	37	17	18881610	18881610	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr17:18881610C>T	ENST00000388995.6	-	5	1592	c.1369G>A	c.(1369-1371)Gcc>Acc	p.A457T	SLC5A10_ENST00000395647.2_Intron|SLC5A10_ENST00000417251.2_Intron|FAM83G_ENST00000345041.4_Missense_Mutation_p.A457T|SLC5A10_ENST00000317977.6_Intron|FAM83G_ENST00000585154.2_Missense_Mutation_p.A457T|SLC5A10_ENST00000395645.3_Intron|SLC5A10_ENST00000395643.2_Intron|SLC5A10_ENST00000395642.1_Intron			A6ND36	FA83G_HUMAN	family with sequence similarity 83, member G	457										central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						TGGTGCTGGGCGCTGGCCTGG	0.642													7	10					0	0	1	0	0	T	18881610	C	T	18881610	3	4	73	1	0	0	0	0	1	0	0	0	5671	768	27	1	1110	1	FAM83G	17	18881610	Missense_Mutation	SNP	C	TCGA-DU-5852-01A-11D-1705-08	1160019	18881610	62313600	55	3287											
LAMA3	3909	broad.mit.edu	37	18	21402283	21402283	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr18:21402283A>T	ENST00000313654.9	+	20	2613	c.2372A>T	c.(2371-2373)tAc>tTc	p.Y791F	LAMA3_ENST00000399516.3_Missense_Mutation_p.Y791F	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	791					cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	ATTCTGAGATACGTTAACCCT	0.383													24	59					0	0	1	0	0	T	21402283	A	T	21402283	3	4	73	1	0	0	0	0	1	0	0	0	8646	391	14	5	2450	5	LAMA3	18	21402283	Missense_Mutation	SNP	A	TCGA-DU-5852-01A-11D-1705-08		21402283	56674965	56	3288	12	2									
LAMA3	3909	broad.mit.edu	37	18	21402284	21402284	+	Silent	SNP	C	C	T			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr18:21402284C>T	ENST00000313654.9	+	20	2614	c.2373C>T	c.(2371-2373)taC>taT	p.Y791Y	LAMA3_ENST00000399516.3_Silent_p.Y791Y	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	791					cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TTCTGAGATACGTTAACCCTG	0.383													25	59					0	0	1	0	0	T	21402284	C	T	21402284	2	4	73	1	0	0	0	0	0	0	0	1	8646	547	19	1		1	LAMA3	18	21402284	Silent	SNP	C	TCGA-DU-5852-01A-11D-1705-08	1	21402284	56674964	57	3289	12	2									
USE1	55850	broad.mit.edu	37	19	17327047	17327047	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr19:17327047G>A	ENST00000595101.1	+	4	319	c.301G>A	c.(301-303)Gag>Aag	p.E101K	USE1_ENST00000379776.4_Missense_Mutation_p.E101K|USE1_ENST00000263897.5_Missense_Mutation_p.E101K|USE1_ENST00000445667.2_Missense_Mutation_p.E101K|USE1_ENST00000596136.1_Missense_Mutation_p.E101K			Q9NZ43	USE1_HUMAN	unconventional SNARE in the ER 1 homolog (S. cerevisiae)	101					lysosomal transport|protein catabolic process|protein transport|secretion by cell|vesicle-mediated transport	endoplasmic reticulum membrane|integral to membrane	protein binding			breast(2)|endometrium(1)|lung(3)	6						CACAGCCAGAGAGCGAGTGCC	0.607													16	20					0	0	1	0	0	A	17327047	G	A	17327047	3	1	73	1	0	0	0	0	1	0	0	0	17091	943	33	2	315	2	USE1	19	17327047	Missense_Mutation	SNP	G	TCGA-DU-5852-01A-11D-1705-08		17327047	41801936	58	3290											
LRRC4B	94030	broad.mit.edu	37	19	51020955	51020955	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr19:51020955G>A	ENST00000599957.1	-	3	2212	c.2015C>T	c.(2014-2016)gCg>gTg	p.A672V	LRRC4B_ENST00000389201.3_Missense_Mutation_p.A672V			Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B	672						cell junction|integral to membrane|presynaptic membrane				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	30		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		GCTGTAGTGCGCCTTGAAGGC	0.692													6	9					0	0	1	0	0	A	51020955	G	A	51020955	3	1	73	1	0	0	0	0	1	0	0	0	9052	1087	38	1	130	1	LRRC4B	19	51020955	Missense_Mutation	SNP	G	TCGA-DU-5852-01A-11D-1705-08	33693908	51020955	8108028	59	3291											
KLK1	3816	broad.mit.edu	37	19	51323240	51323240	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr19:51323240T>G	ENST00000448701.2	-	5	1566	c.242A>C	c.(241-243)gAt>gCt	p.D81A	KLK1_ENST00000301420.2_Missense_Mutation_p.D183A			P06870	KLK1_HUMAN	kallikrein 1	183	Peptidase S1.				proteolysis	nucleus	serine-type endopeptidase activity			breast(1)|large_intestine(4)|lung(7)|urinary_tract(1)	13		all_neural(266;0.0199)		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00399)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TTTGCACTCATCATTAGGCAG	0.547													12	30					0	0	1	0	0	G	51323240	T	G	51323240	3	3	73	1	0	0	0	0	1	0	0	0	8440	1435	50	4	248	4	KLK1	19	51323240	Missense_Mutation	SNP	T	TCGA-DU-5852-01A-11D-1705-08	302285	51323240	7805743	60	3292											
KLK15	55554	broad.mit.edu	37	19	51330300	51330300	+	Silent	SNP	G	G	A			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr19:51330300G>A	ENST00000326856.4	-	4	441	c.312C>T	c.(310-312)aaC>aaT	p.N104N	KLK15_ENST00000598239.1_Silent_p.N105N|KLK15_ENST00000301421.2_Silent_p.N105N|KLK15_ENST00000596931.1_Silent_p.N104N|KLK15_ENST00000416184.1_Silent_p.N105N	NM_001277081.1	NP_001264010.1	Q9H2R5	KLK15_HUMAN	kallikrein-related peptidase 15	105	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.0143)		ACATGATGTCGTTGCGGTGGC	0.687													36	43					0	0	1	0	0	A	51330300	G	A	51330300	2	1	73	1	0	0	0	0	0	0	0	1	8446	1136	40	1		1	KLK15	19	51330300	Silent	SNP	G	TCGA-DU-5852-01A-11D-1705-08	7060	51330300	7798683	61	3293											
LILRA2	11027	broad.mit.edu	37	19	55086781	55086781	+	Silent	SNP	G	G	A	rs144206436		TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr19:55086781G>A	ENST00000251377.3	+	6	847	c.714G>A	c.(712-714)gaG>gaA	p.E238E	LILRB1_ENST00000418536.2_Intron|LILRA2_ENST00000391738.3_Silent_p.E238E|LILRA2_ENST00000391737.1_Silent_p.E226E|LILRB1_ENST00000448689.1_Intron|LILRA2_ENST00000251376.3_Silent_p.E238E|LILRB1_ENST00000396321.2_Intron					leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2											breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50				GBM - Glioblastoma multiforme(193;0.0963)		CCCCCGGGGAGAGCCTGACCC	0.577													33	52					0	0	1	0	0	A	55086781	G	A	55086781	2	1	73	1	0	0	0	0	0	0	0	1	8825	933	33	2		2	LILRA2	19	55086781	Silent	SNP	G	TCGA-DU-5852-01A-11D-1705-08	3756481	55086781	4042202	62	3294											
PTPRH	5794	broad.mit.edu	37	19	55713502	55713502	+	Missense_Mutation	SNP	C	C	T	rs147691392	byFrequency	TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr19:55713502C>T	ENST00000376350.3	-	6	1097	c.1075G>A	c.(1075-1077)Ggg>Agg	p.G359R	PTPRH_ENST00000263434.5_Missense_Mutation_p.G181R|PTPRH_ENST00000588559.1_5'UTR	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	359	Fibronectin type-III 4.				apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		TACAAACACCCGGGTTCAAGT	0.542													45	61					0	0	1	0	0	T	55713502	C	T	55713502	3	4	73	1	0	0	0	0	1	0	0	0	12855	652	23	1	2332	1	PTPRH	19	55713502	Missense_Mutation	SNP	C	TCGA-DU-5852-01A-11D-1705-08	626721	55713502	3415481	63	3295											
PROKR2	128674	broad.mit.edu	37	20	5283062	5283062	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr20:5283062G>A	ENST00000546004.1	-	3	1025	c.779C>T	c.(778-780)aCg>aTg	p.T260M	PROKR2_ENST00000217270.3_Missense_Mutation_p.T260M			Q8NFJ6	PKR2_HUMAN	prokineticin receptor 2	260						integral to membrane|plasma membrane	neuropeptide Y receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						AATCTGCTCCGTCTGGAACCC	0.607										HNSCC(71;0.22)			5	22					0	0	1	0	0	A	5283062	G	A	5283062	3	1	73	1	0	0	0	0	1	0	0	0	12605	1145	40	1	378	1	PROKR2	20	5283062	Missense_Mutation	SNP	G	TCGA-DU-5852-01A-11D-1705-08		5283062	57742458	64	3296											
SLC24A3	57419	broad.mit.edu	37	20	19701644	19701644	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr20:19701644G>A	ENST00000328041.6	+	17	1992	c.1795G>A	c.(1795-1797)Gtc>Atc	p.V599I		NM_020689.3	NP_065740.2	Q9HC58	NCKX3_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 3	599						integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						GGTGTTCGGCGTCCACCTGAA	0.607													4	44					0	0	1	0	0	A	19701644	G	A	19701644	3	1	73	1	0	0	0	0	1	0	0	0	14522	1145	40	1	1861	1	SLC24A3	20	19701644	Missense_Mutation	SNP	G	TCGA-DU-5852-01A-11D-1705-08	14418582	19701644	43323876	65	3297											
ITCH	83737	broad.mit.edu	37	20	33068913	33068913	+	Silent	SNP	C	C	T			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr20:33068913C>T	ENST00000374864.4	+	20	2208	c.1995C>T	c.(1993-1995)tcC>tcT	p.S665S	ITCH_ENST00000535650.1_Silent_p.S555S|ITCH_ENST00000483727.1_3'UTR|ITCH_ENST00000262650.6_Silent_p.S706S	NM_001257137.1|NM_001257138.1|NM_031483.5	NP_001244066.1|NP_001244067.1|NP_113671.3	Q96J02	ITCH_HUMAN	itchy E3 ubiquitin protein ligase	706	HECT.				apoptosis|entry of virus into host cell|inflammatory response|innate immune response|negative regulation of apoptosis|negative regulation of defense response to virus|negative regulation of JNK cascade|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K29-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cell growth|regulation of protein deubiquitination|response to virus	cytosol|nucleus|plasma membrane	CXCR chemokine receptor binding|ribonucleoprotein binding|ubiquitin-protein ligase activity			NS(1)|breast(9)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(13)|skin(1)|upper_aerodigestive_tract(1)	36						TGTACTTCTCCGTTGACAAAG	0.313													33	68					0	0	1	0	0	T	33068913	C	T	33068913	2	4	73	1	0	0	0	0	0	0	0	1	7912	639	23	1		1	ITCH	20	33068913	Silent	SNP	C	TCGA-DU-5852-01A-11D-1705-08	13367269	33068913	29956607	66	3298											
PLCG1	5335	broad.mit.edu	37	20	39802384	39802384	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr20:39802384G>A	ENST00000373272.2	+	29	3892	c.3487G>A	c.(3487-3489)Gag>Aag	p.E1163K	PLCG1_ENST00000244007.3_Missense_Mutation_p.E1163K|PLCG1_ENST00000608689.1_3'UTR|PLCG1_ENST00000373271.1_Missense_Mutation_p.E1163K	NM_002660.2	NP_002651.2	P19174	PLCG1_HUMAN	phospholipase C, gamma 1	1163	C2.				activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration|T cell receptor signaling pathway	cytosol|lamellipodium|plasma membrane|ruffle	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity			breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2)	46		Myeloproliferative disorder(115;0.00878)				CGTGGTGTATGAGGAAGACAT	0.517											OREG0025953	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	106					0	0	1	0	0	A	39802384	G	A	39802384	3	1	73	1	0	0	0	0	1	0	0	0	12083	1291	45	2	3601	2	PLCG1	20	39802384	Missense_Mutation	SNP	G	TCGA-DU-5852-01A-11D-1705-08	6733471	39802384	23223136	67	3299											
BAGE2	85319	broad.mit.edu	37	21	11039030	11039030	+	RNA	SNP	G	G	T			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr21:11039030G>T	ENST00000470054.1	-	0	1173									B melanoma antigen family, member 2															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)		ACCCTCAATTGTAGGAGTCAT	0.383													36	503					2.19358e-23	2.393e-23	1	1	0	T	11039030	G	T	11039030	1	4	73	0	1	0	0	0	0	0	0	0	1290	1392	48	5		5	BAGE2	21	11039030	RNA	SNP	G	TCGA-DU-5852-01A-11D-1705-08		11039030	37090865	68	3300											
TTC3	7267	broad.mit.edu	37	21	38536430	38536430	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr21:38536430T>G	ENST00000399017.2	+	32	5995	c.3248T>G	c.(3247-3249)cTc>cGc	p.L1083R	TTC3_ENST00000479930.1_3'UTR|TTC3_ENST00000355666.1_Missense_Mutation_p.L1083R|TTC3_ENST00000354749.2_Missense_Mutation_p.L1083R	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	1083					protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				TTCGAAGCTCTCTATGACCAA	0.398													15	56					0	0	1	0	0	G	38536430	T	G	38536430	3	3	73	1	0	0	0	0	1	0	0	0	16759	1551	54	5	3370	5	TTC3	21	38536430	Missense_Mutation	SNP	T	TCGA-DU-5852-01A-11D-1705-08	27497400	38536430	9593465	69	3301											
ACE2	59272	broad.mit.edu	37	X	15580079	15580079	+	Silent	SNP	T	T	C			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chrX:15580079T>C	ENST00000427411.1	-	19	2583	c.2367A>G	c.(2365-2367)ggA>ggG	p.G789G	ACE2_ENST00000471548.1_5'UTR|ACE2_ENST00000252519.3_Silent_p.G789G	NM_021804.2	NP_068576.1	Q9BYF1	ACE2_HUMAN	angiotensin I converting enzyme 2	789					angiotensin-mediated drinking behavior|proteolysis|receptor biosynthetic process|regulation of cell proliferation|virion attachment, binding of host cell surface receptor	cell surface|extracellular space|integral to membrane|membrane raft|plasma membrane	carboxypeptidase activity|glycoprotein binding|metallopeptidase activity|peptidyl-dipeptidase activity|viral receptor activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	32	Hepatocellular(33;0.183)				Moexipril(DB00691)	GATTATTTTCTCCTTTGCTAA	0.323													40	66					0	0	1	0	0	C	15580079	T	C	15580079	2	2	73	1	0	0	0	0	0	0	0	1	137	1538	54	3		3	ACE2	23	15580079	Silent	SNP	T	TCGA-DU-5852-01A-11D-1705-08		15580079	139690481	70	3302											
FAM47C	442444	broad.mit.edu	37	X	37027911	37027911	+	Silent	SNP	G	G	A			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chrX:37027911G>A	ENST00000358047.3	+	1	1480	c.1428G>A	c.(1426-1428)ccG>ccA	p.P476P		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	476										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						ATCTCTGCCCGGAGCCTCCAG	0.622													19	37					0	0	1	0	0	A	37027911	G	A	37027911	2	1	73	1	0	0	0	0	0	0	0	1	5607	1103	39	1		1	FAM47C	23	37027911	Silent	SNP	G	TCGA-DU-5852-01A-11D-1705-08	21447832	37027911	118242649	71	3303											
CACNA1F	778	broad.mit.edu	37	X	49088176	49088176	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chrX:49088176G>A	ENST00000376265.2	-	2	300	c.239C>T	c.(238-240)cCt>cTt	p.P80L	CACNA1F_ENST00000376251.1_Intron|CACNA1F_ENST00000323022.5_Missense_Mutation_p.P80L	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	80					axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Verapamil(DB00661)	CCGTCGCAGAGGATTGGCCAG	0.602													13	39					0	0	1	0	0	A	49088176	G	A	49088176	3	1	73	1	0	0	0	0	1	0	0	0	2561	1000	35	2	5882	2	CACNA1F	23	49088176	Missense_Mutation	SNP	G	TCGA-DU-5852-01A-11D-1705-08	12060265	49088176	106182384	72	3304											
NLGN3	54413	broad.mit.edu	37	X	70389237	70389237	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chrX:70389237C>T	ENST00000374051.3	+	7	2099	c.1777C>T	c.(1777-1779)Cga>Tga	p.R593*	NLGN3_ENST00000476589.1_3'UTR|NLGN3_ENST00000536169.1_Nonsense_Mutation_p.R573*|NLGN3_ENST00000358741.3_Nonsense_Mutation_p.R613*	NM_018977.3	NP_061850.2	Q9NZ94	NLGN3_HUMAN	neuroligin 3	613					neuron cell-cell adhesion|positive regulation of synaptogenesis|receptor-mediated endocytosis|social behavior|synapse assembly	cell surface|endocytic vesicle|integral to plasma membrane|synapse	neurexin binding|receptor activity			biliary_tract(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	37	Renal(35;0.156)					ACCAAGGGTCCGAGATCATTA	0.527													4	9					0	0	1	0	0	T	70389237	C	T	70389237	4	4	73	1	0	0	0	0	0	1	0	0	10510	644	23	1	1863	1	NLGN3	23	70389237	Nonsense_Mutation	SNP	C	TCGA-DU-5852-01A-11D-1705-08	21301061	70389237	84881323	73	3305											
TGIF2LX	90316	broad.mit.edu	37	X	89177201	89177201	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chrX:89177201T>A	ENST00000561129.2	+	1	247	c.117T>A	c.(115-117)gaT>gaA	p.D39E	TGIF2LX_ENST00000283891.5_Missense_Mutation_p.D39E			Q8IUE1	TF2LX_HUMAN	TGFB-induced factor homeobox 2-like, X-linked	39						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(29)|ovary(1)|skin(3)|urinary_tract(1)	40						ATAACGCAGATACAGGCAGAG	0.547													20	37					0	0	1	0	0	A	89177201	T	A	89177201	3	1	73	1	0	0	0	0	1	0	0	0	15887	1403	49	4	119	4	TGIF2LX	23	89177201	Missense_Mutation	SNP	T	TCGA-DU-5852-01A-11D-1705-08	18787964	89177201	66093359	74	3306											
PCDH11X	27328	broad.mit.edu	37	X	91090535	91090535	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chrX:91090535C>T	ENST00000373094.1	+	1	877	c.32C>T	c.(31-33)gCg>gTg	p.A11V	PCDH11X_ENST00000373097.1_Missense_Mutation_p.A11V|PCDH11X_ENST00000504220.2_Missense_Mutation_p.A11V|PCDH11X_ENST00000373088.1_Missense_Mutation_p.A11V|PCDH11X_ENST00000395337.2_Missense_Mutation_p.A11V|PCDH11X_ENST00000361724.1_Missense_Mutation_p.A11V|PCDH11X_ENST00000361655.2_Missense_Mutation_p.A11V|PCDH11X_ENST00000298274.8_Missense_Mutation_p.A11V|PCDH11X_ENST00000406881.1_Missense_Mutation_p.A11V	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	11					homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						TACATTTTCGCGGTCCTGCTA	0.493													4	93					0	0	1	0	0	T	91090535	C	T	91090535	3	4	73	1	0	0	0	0	1	0	0	0	11555	768	27	1	34	1	PCDH11X	23	91090535	Missense_Mutation	SNP	C	TCGA-DU-5852-01A-11D-1705-08	1913334	91090535	64180025	75	3307											
PCDH11X	27328	broad.mit.edu	37	X	91133712	91133712	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chrX:91133712G>A	ENST00000373094.1	+	2	3318	c.2473G>A	c.(2473-2475)Gtt>Att	p.V825I	PCDH11X_ENST00000373097.1_Missense_Mutation_p.V825I|PCDH11X_ENST00000504220.2_Missense_Mutation_p.V825I|PCDH11X_ENST00000373088.1_Missense_Mutation_p.V825I|PCDH11X_ENST00000395337.2_Missense_Mutation_p.V825I|PCDH11X_ENST00000361724.1_Missense_Mutation_p.V825I|PCDH11X_ENST00000361655.2_Missense_Mutation_p.V825I|PCDH11X_ENST00000298274.8_Missense_Mutation_p.V825I|PCDH11X_ENST00000406881.1_Missense_Mutation_p.V825I	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	825					homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						CATAACTGTCGTTGTAGTTAT	0.463													38	56					0	0	1	0	0	A	91133712	G	A	91133712	3	1	73	1	0	0	0	0	1	0	0	0	11555	1145	40	1	2479	1	PCDH11X	23	91133712	Missense_Mutation	SNP	G	TCGA-DU-5852-01A-11D-1705-08	43177	91133712	64136848	76	3308											
BTK	695	broad.mit.edu	37	X	100613413	100613413	+	Silent	SNP	C	C	A			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chrX:100613413C>A	ENST00000308731.7	-	12	1150	c.987G>T	c.(985-987)ggG>ggT	p.G329G	BTK_ENST00000372880.1_Silent_p.G329G	NM_000061.2	NP_000052.1	Q06187	BTK_HUMAN	Bruton agammaglobulinemia tyrosine kinase	329	SH2.				calcium-mediated signaling|induction of apoptosis by extracellular signals|mesoderm development	cytosol|membrane raft|nucleus|plasma membrane	ATP binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol-3,4,5-trisphosphate binding			breast(4)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(25)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						GACGTATCACCCCTTGAGGGT	0.473									Agammaglobulinemia, X-linked				42	67					1.59361e-14	1.68735e-14	1	1	0	A	100613413	C	A	100613413	2	1	73	1	0	0	0	0	0	0	0	1	1560	610	22	5		5	BTK	23	100613413	Silent	SNP	C	TCGA-DU-5852-01A-11D-1705-08	9479701	100613413	54657147	77	3309											
GPRASP1	9737	broad.mit.edu	37	X	101909474	101909474	+	Silent	SNP	A	A	G			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chrX:101909474A>G	ENST00000537097.1	+	6	1446	c.633A>G	c.(631-633)gcA>gcG	p.A211A	GPRASP1_ENST00000361600.5_Silent_p.A211A|RP4-769N13.7_ENST00000602441.1_RNA|GPRASP1_ENST00000415986.1_Silent_p.A211A|GPRASP1_ENST00000444152.1_Silent_p.A211A	NM_001184727.1	NP_001171656.1	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting protein 1	211						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						AGGTCACTGCAAAATTTCATC	0.443													13	254					0	0	1	0	0	G	101909474	A	G	101909474	2	3	73	1	0	0	0	0	0	0	0	1	6763	117	5	3		3	GPRASP1	23	101909474	Silent	SNP	A	TCGA-DU-5852-01A-11D-1705-08	1296061	101909474	53361086	78	3310											
OCRL	4952	broad.mit.edu	37	X	128692669	128692669	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chrX:128692669C>A	ENST00000371113.4	+	7	664	c.499C>A	c.(499-501)Caa>Aaa	p.Q167K	OCRL_ENST00000486673.1_3'UTR|OCRL_ENST00000357121.5_Missense_Mutation_p.Q167K	NM_000276.3	NP_000267.2	Q01968	OCRL_HUMAN	oculocerebrorenal syndrome of Lowe	167					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	clathrin-coated vesicle|cytosol|early endosome|Golgi stack|Golgi-associated vesicle	GTPase activator activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding			breast(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|upper_aerodigestive_tract(3)	48						AATAAATTCACAAAATCAGCC	0.393													3	71					0.004672	0.00471566	1	1	0	A	128692669	C	A	128692669	3	1	73	1	0	0	0	0	1	0	0	0	10871	479	17	5	525	5	OCRL	23	128692669	Missense_Mutation	SNP	C	TCGA-DU-5852-01A-11D-1705-08	26783195	128692669	26577891	79	3311											
SLC9A6	10479	broad.mit.edu	37	X	135112296	135112296	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chrX:135112296G>C	ENST00000370695.4	+	13	1657	c.1622G>C	c.(1621-1623)gGt>gCt	p.G541A	SLC9A6_ENST00000370698.3_Missense_Mutation_p.G509A|SLC9A6_ENST00000370701.1_Missense_Mutation_p.G489A	NM_001042537.1	NP_001036002.1	Q92581	SL9A6_HUMAN	solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6	509					regulation of pH	early endosome membrane|endoplasmic reticulum membrane|integral to membrane|microsome|plasma membrane|recycling endosome membrane	sodium:hydrogen antiporter activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(18)|ovary(2)|upper_aerodigestive_tract(1)	33	Acute lymphoblastic leukemia(192;0.000127)					TTTAGGGTTGGTGTTGATTCA	0.358													22	69					0	0	1	0	0	C	135112296	G	C	135112296	3	2	73	1	0	0	0	0	1	0	0	0	14773	1261	44	5	1672	5	SLC9A6	23	135112296	Missense_Mutation	SNP	G	TCGA-DU-5852-01A-11D-1705-08	6419627	135112296	20158264	80	3312											
GPR112	139378	broad.mit.edu	37	X	135405491	135405491	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chrX:135405491G>A	ENST00000394143.1	+	5	916	c.625G>A	c.(625-627)Gaa>Aaa	p.E209K	GPR112_ENST00000412101.1_Intron|GPR112_ENST00000370652.1_Missense_Mutation_p.E209K|GPR112_ENST00000287534.4_Missense_Mutation_p.E146K|GPR112_ENST00000394141.1_Intron	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	209					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					AGTTAGTTGGGAAGAAGACGT	0.438													35	123					0	0	1	0	0	A	135405491	G	A	135405491	3	1	73	1	0	0	0	0	1	0	0	0	6669	1175	41	2	631	2	GPR112	23	135405491	Missense_Mutation	SNP	G	TCGA-DU-5852-01A-11D-1705-08	293195	135405491	19865069	81	3313											
SPANXN1	494118	broad.mit.edu	37	X	144337223	144337223	+	Silent	SNP	C	C	T			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chrX:144337223C>T	ENST00000370493.3	+	2	867	c.108C>T	c.(106-108)ccC>ccT	p.P36P		NM_001009614.2	NP_001009614.1	Q5VSR9	SPXN1_HUMAN	SPANX family, member N1	36										endometrium(2)|kidney(2)|lung(8)|prostate(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(192;6.56e-05)					ACTTAGCCCCCGAACCGAGTT	0.403													35	52					0	0	1	0	0	T	144337223	C	T	144337223	2	4	73	1	0	0	0	0	0	0	0	1	15046	639	23	1		1	SPANXN1	23	144337223	Silent	SNP	C	TCGA-DU-5852-01A-11D-1705-08	8931732	144337223	10933337	82	3314											
F8	2157	broad.mit.edu	37	X	154065952	154065952	+	Nonsense_Mutation	SNP	G	G	A	rs137852354		TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chrX:154065952G>A	ENST00000360256.4	-	26	7176	c.6976C>T	c.(6976-6978)Cga>Tga	p.R2326*	F8_ENST00000330287.6_Nonsense_Mutation_p.R191*	NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	2326	F5/8 type C 2.		R -> G (in HEMA).|R -> L (in HEMA; severe/moderate; may cause reduced phospholipid binding).|R -> P (in HEMA; severe sporadic).|R -> Q (in HEMA; moderate/mild; may cause reduced phospholipid binding).		acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	GGGTGAATTCGAAGGTAGCGA	0.527													7	23					0	0	1	0	0	A	154065952	G	A	154065952	4	1	73	1	0	0	0	0	0	1	0	0	5378	1066	37	1	83	1	F8	23	154065952	Nonsense_Mutation	SNP	G	TCGA-DU-5852-01A-11D-1705-08	9728729	154065952	1204608	83	3315											
PGM1	5236	broad.mit.edu	37	1	64100510	64100510	+	Silent	SNP	G	G	A			TCGA-DU-5853-01A-11D-1893-08	TCGA-DU-5853-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0750c06c-d62b-42d9-804a-a9b9d76b90ed	fb0e600b-10e0-43fb-b877-0981c762da9b	g.chr1:64100510G>A	ENST00000371083.4	+	5	1115	c.747G>A	c.(745-747)ccG>ccA	p.P249P	PGM1_ENST00000540265.1_Silent_p.P34P|PGM1_ENST00000371084.3_Silent_p.P231P	NM_001172818.1	NP_001166289.1	P36871	PGM1_HUMAN	phosphoglucomutase 1	231					cellular calcium ion homeostasis|galactose catabolic process|glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	magnesium ion binding|phosphoglucomutase activity			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20						TTGTGGGACCGTATGTAAAGA	0.473													4	144					0	0	0.000248	0	0	A	64100510	G	A	64100510	2	1	74	1	0	0	0	0	0	0	0	1	11845	1132	40	1		1	PGM1	1	64100510	Silent	SNP	G	TCGA-DU-5853-01A-11D-1893-08		64100510	185150111	1	3316											
DCST1	149095	broad.mit.edu	37	1	155013046	155013046	+	Silent	SNP	C	C	T	rs141235792		TCGA-DU-5853-01A-11D-1893-08	TCGA-DU-5853-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0750c06c-d62b-42d9-804a-a9b9d76b90ed	fb0e600b-10e0-43fb-b877-0981c762da9b	g.chr1:155013046C>T	ENST00000295542.1	+	6	573	c.477C>T	c.(475-477)cgC>cgT	p.R159R	DCST1_ENST00000423025.2_Silent_p.R134R|DCST1_ENST00000392480.1_Silent_p.R159R|DCST1_ENST00000368419.2_Silent_p.R159R	NM_152494.3	NP_689707.2	Q5T197	DCST1_HUMAN	DC-STAMP domain containing 1	159						integral to membrane	zinc ion binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	27	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			ACAACACCCGCGCAGCTTGGC	0.617													4	9					0	0	0.000248	0	0	T	155013046	C	T	155013046	2	4	74	1	0	0	0	0	0	0	0	1	4325	755	27	1		1	DCST1	1	155013046	Silent	SNP	C	TCGA-DU-5853-01A-11D-1893-08	90912536	155013046	94237575	2	3317											
SEMA4F	10505	broad.mit.edu	37	2	74901749	74901749	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-5853-01A-11D-1893-08	TCGA-DU-5853-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0750c06c-d62b-42d9-804a-a9b9d76b90ed	fb0e600b-10e0-43fb-b877-0981c762da9b	g.chr2:74901749G>A	ENST00000357877.2	+	8	1096	c.947G>A	c.(946-948)cGa>cAa	p.R316Q	SEMA4F_ENST00000339773.5_Missense_Mutation_p.R161Q	NM_004263.3	NP_004254.2	O95754	SEM4F_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4F	316	Sema.				cell-cell signaling	endoplasmic reticulum|integral to plasma membrane	receptor activity			biliary_tract(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	45						GCTGTGCTTCGACCTGAGCTT	0.562													21	224					0	0	0.001882	0	0	A	74901749	G	A	74901749	3	1	74	1	0	0	0	0	1	0	0	0	14089	1058	37	1	977	1	SEMA4F	2	74901749	Missense_Mutation	SNP	G	TCGA-DU-5853-01A-11D-1893-08		74901749	168297624	3	3318											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-DU-5853-01A-11D-1893-08	TCGA-DU-5853-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0750c06c-d62b-42d9-804a-a9b9d76b90ed	fb0e600b-10e0-43fb-b877-0981c762da9b	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								38	45					0	0	0.002522	0	0	T	209113112	C	T	209113112	3	4	74	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-DU-5853-01A-11D-1893-08	134211363	209113112	34086261	4	3319											
GIGYF2	26058	broad.mit.edu	37	2	233655736	233655736	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-5853-01A-11D-1893-08	TCGA-DU-5853-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0750c06c-d62b-42d9-804a-a9b9d76b90ed	fb0e600b-10e0-43fb-b877-0981c762da9b	g.chr2:233655736A>G	ENST00000373566.3	+	12	1212	c.1015A>G	c.(1015-1017)Att>Gtt	p.I339V	GIGYF2_ENST00000409480.1_Missense_Mutation_p.I339V|GIGYF2_ENST00000409451.3_Missense_Mutation_p.I339V|GIGYF2_ENST00000409547.1_Missense_Mutation_p.I317V|GIGYF2_ENST00000452341.2_Missense_Mutation_p.I148V|GIGYF2_ENST00000373563.4_Missense_Mutation_p.I317V|GIGYF2_ENST00000409196.3_Missense_Mutation_p.I311V			Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	317					cell death		protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		GAAAGAGCCTATTCCAGAAGA	0.443													3	92					0	0	0.004672	0	0	G	233655736	A	G	233655736	3	3	74	1	0	0	0	0	1	0	0	0	6420	449	16	3	1053	3	GIGYF2	2	233655736	Missense_Mutation	SNP	A	TCGA-DU-5853-01A-11D-1893-08	24542624	233655736	9543637	5	3320											
SCN10A	6336	broad.mit.edu	37	3	38793869	38793869	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-5853-01A-11D-1893-08	TCGA-DU-5853-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0750c06c-d62b-42d9-804a-a9b9d76b90ed	fb0e600b-10e0-43fb-b877-0981c762da9b	g.chr3:38793869G>T	ENST00000449082.2	-	11	1595	c.1596C>A	c.(1594-1596)agC>agA	p.S532R		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	532					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	AGCCCCGATGGCTTTCGTGGT	0.602													7	82					0.00198382	0.0025736	0.001984	1	0	T	38793869	G	T	38793869	3	4	74	1	0	0	0	0	1	0	0	0	13966	1194	42	5	4342	5	SCN10A	3	38793869	Missense_Mutation	SNP	G	TCGA-DU-5853-01A-11D-1893-08		38793869	159228561	6	3321											
CD200	4345	broad.mit.edu	37	3	112064083	112064083	+	Silent	SNP	C	C	T			TCGA-DU-5853-01A-11D-1893-08	TCGA-DU-5853-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0750c06c-d62b-42d9-804a-a9b9d76b90ed	fb0e600b-10e0-43fb-b877-0981c762da9b	g.chr3:112064083C>T	ENST00000315711.8	+	3	426	c.369C>T	c.(367-369)ttC>ttT	p.F123F	CD200_ENST00000383681.3_Silent_p.F49F|CD200_ENST00000473539.1_Silent_p.F148F	NM_005944.5	NP_005935.4	P41217	OX2G_HUMAN	CD200 molecule	123	Ig-like V-type.				regulation of immune response	integral to plasma membrane				endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16		Acute lymphoblastic leukemia(4;1.7e-08)|all_hematologic(4;8.82e-05)				TGTGTCTCTTCAATACCTTTG	0.443													4	125					0	0	0.000248	0	0	T	112064083	C	T	112064083	2	4	74	1	0	0	0	0	0	0	0	1	3002	825	29	2		2	CD200	3	112064083	Silent	SNP	C	TCGA-DU-5853-01A-11D-1893-08	73270214	112064083	85958347	7	3322											
KIT	3815	broad.mit.edu	37	4	55561801	55561801	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-5853-01A-11D-1893-08	TCGA-DU-5853-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0750c06c-d62b-42d9-804a-a9b9d76b90ed	fb0e600b-10e0-43fb-b877-0981c762da9b	g.chr4:55561801T>G	ENST00000288135.5	+	2	288	c.191T>G	c.(190-192)gTc>gGc	p.V64G		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	64	Ig-like C2-type 1.				male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular space|integral to membrane	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity			NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	CCGGGCTTTGTCAAATGGACT	0.493		1	"Mis, O"		"GIST, AML, TGCT, mastocytosis, mucosal melanoma"	"GIST, epithelioma"	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors				4	78					0	0	0.000248	0	0	G	55561801	T	G	55561801	3	3	74	1	0	0	0	0	1	0	0	0	8372	1667	58	5	197	5	KIT	4	55561801	Missense_Mutation	SNP	T	TCGA-DU-5853-01A-11D-1893-08		55561801	135592475	8	3323											
PCDHGB1	56104	broad.mit.edu	37	5	140730818	140730818	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-5853-01A-11D-1893-08	TCGA-DU-5853-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0750c06c-d62b-42d9-804a-a9b9d76b90ed	fb0e600b-10e0-43fb-b877-0981c762da9b	g.chr5:140730818A>G	ENST00000523390.1	+	1	991	c.991A>G	c.(991-993)Ata>Gta	p.I331V	PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1														central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TAATGTTCAAATAGAAATTGT	0.428													6	76					0	0	0.001984	0	0	G	140730818	A	G	140730818	3	3	74	1	0	0	0	0	1	0	0	0	11609	101	4	3	993	3	PCDHGB1	5	140730818	Missense_Mutation	SNP	A	TCGA-DU-5853-01A-11D-1893-08		140730818	40184442	9	3324											
GPR31	2853	broad.mit.edu	37	6	167570606	167570606	+	Silent	SNP	G	G	A			TCGA-DU-5853-01A-11D-1893-08	TCGA-DU-5853-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0750c06c-d62b-42d9-804a-a9b9d76b90ed	fb0e600b-10e0-43fb-b877-0981c762da9b	g.chr6:167570606G>A	ENST00000366834.1	-	1	1211	c.714C>T	c.(712-714)tgC>tgT	p.C238C		NM_005299.2	NP_005290.2	O00270	GPR31_HUMAN	G protein-coupled receptor 31	238						integral to plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(4)|large_intestine(4)|lung(7)|prostate(1)	17		Breast(66;1.53e-05)|Ovarian(120;0.0606)		OV - Ovarian serous cystadenocarcinoma(33;4.81e-20)|BRCA - Breast invasive adenocarcinoma(81;4.45e-06)|GBM - Glioblastoma multiforme(31;0.00492)		TGGCCAGGAAGCAGGGCAGAA	0.592													11	118					0	0	0.000978	0	0	A	167570606	G	A	167570606	2	1	74	1	0	0	0	0	0	0	0	1	6727	963	34	2		2	GPR31	6	167570606	Silent	SNP	G	TCGA-DU-5853-01A-11D-1893-08		167570606	3544461	10	3325											
UNC93A	54346	broad.mit.edu	37	6	167717405	167717405	+	Splice_Site	SNP	A	A	G			TCGA-DU-5853-01A-11D-1893-08	TCGA-DU-5853-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0750c06c-d62b-42d9-804a-a9b9d76b90ed	fb0e600b-10e0-43fb-b877-0981c762da9b	g.chr6:167717405A>G	ENST00000230256.3	+	5	800		c.e5-1		UNC93A_ENST00000366829.2_Splice_Site	NM_018974.3	NP_061847.2	Q86WB7	UN93A_HUMAN	unc-93 homolog A (C. elegans)							integral to membrane|plasma membrane				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	40		Breast(66;7.62e-05)|Ovarian(120;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		ATGTCCTTTCAGGGAGTGGTG	0.537													27	105					0	0	0.002836	0	0	G	167717405	A	G	167717405	5	3	74	1	0	0	0	0	0	0	1	0	17056	202	7	3	642	3	UNC93A	6	167717405	Splice_Site	SNP	A	TCGA-DU-5853-01A-11D-1893-08	146799	167717405	3397662	11	3326											
NOS3	4846	broad.mit.edu	37	7	150693876	150693876	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-5853-01A-11D-1893-08	TCGA-DU-5853-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0750c06c-d62b-42d9-804a-a9b9d76b90ed	fb0e600b-10e0-43fb-b877-0981c762da9b	g.chr7:150693876C>T	ENST00000297494.3	+	5	802	c.445C>T	c.(445-447)Cgg>Tgg	p.R149W	NOS3_ENST00000467517.1_Missense_Mutation_p.R149W|NOS3_ENST00000484524.1_Missense_Mutation_p.R149W|NOS3_ENST00000461406.1_Intron	NM_000603.4	NP_000594.2	P29474	NOS3_HUMAN	nitric oxide synthase 3 (endothelial cell)	149	Interaction with NOSIP.				anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	caveola|cytoskeleton|cytosol|Golgi membrane	actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	p.R149R(1)		NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)	CCACGAACAGCGGCTTCAAGA	0.657													6	23					0	0	0.006214	0	0	T	150693876	C	T	150693876	3	4	74	1	0	0	0	0	1	0	0	0	10591	759	27	1	459	1	NOS3	7	150693876	Missense_Mutation	SNP	C	TCGA-DU-5853-01A-11D-1893-08		150693876	8444787	12	3327											
KIAA1429	25962	broad.mit.edu	37	8	95523837	95523837	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-5853-01A-11D-1893-08	TCGA-DU-5853-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0750c06c-d62b-42d9-804a-a9b9d76b90ed	fb0e600b-10e0-43fb-b877-0981c762da9b	g.chr8:95523837A>G	ENST00000297591.5	-	13	3041	c.2966T>C	c.(2965-2967)cTc>cCc	p.L989P	KIAA1429_ENST00000437199.1_Missense_Mutation_p.L989P|KIAA1429_ENST00000421249.2_Missense_Mutation_p.L989P	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	989					mRNA processing|RNA splicing	nucleus				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			GTTGACATGGAGCCTCCAAGG	0.428													3	111					0	0	0.004672	0	0	G	95523837	A	G	95523837	3	3	74	1	0	0	0	0	1	0	0	0	8273	304	11	3	2574	3	KIAA1429	8	95523837	Missense_Mutation	SNP	A	TCGA-DU-5853-01A-11D-1893-08		95523837	50840185	13	3328											
FAM178A	55719	broad.mit.edu	37	10	102683830	102683830	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-5853-01A-11D-1893-08	TCGA-DU-5853-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0750c06c-d62b-42d9-804a-a9b9d76b90ed	fb0e600b-10e0-43fb-b877-0981c762da9b	g.chr10:102683830G>C	ENST00000238961.4	+	5	1614	c.1072G>C	c.(1072-1074)Gag>Cag	p.E358Q	FAM178A_ENST00000370271.3_Missense_Mutation_p.E358Q|FAM178A_ENST00000370269.3_Missense_Mutation_p.E358Q	NM_018121.3	NP_060591.3	Q8IX21	F178A_HUMAN	family with sequence similarity 178, member A																		AAAAGCAAGAGAGTCCTTCCT	0.398													5	46					0	0	0.001168	0	0	C	102683830	G	C	102683830	3	2	74	1	0	0	0	0	1	0	0	0	5533	943	33	4	1090	4	FAM178A	10	102683830	Missense_Mutation	SNP	G	TCGA-DU-5853-01A-11D-1893-08		102683830	32850917	14	3329											
UCP3	7352	broad.mit.edu	37	11	73714925	73714925	+	Silent	SNP	G	G	A			TCGA-DU-5853-01A-11D-1893-08	TCGA-DU-5853-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0750c06c-d62b-42d9-804a-a9b9d76b90ed	fb0e600b-10e0-43fb-b877-0981c762da9b	g.chr11:73714925G>A	ENST00000314032.4	-	6	1323	c.771C>T	c.(769-771)ctC>ctT	p.L257L	UCP3_ENST00000426995.2_Silent_p.L257L|UCP3_ENST00000348534.4_Silent_p.L155L	NM_003356.3	NP_003347.1	P55916	UCP3_HUMAN	uncoupling protein 3 (mitochondrial, proton carrier)	257					mitochondrial transport|respiratory electron transport chain|respiratory gaseous exchange	integral to membrane|mitochondrial inner membrane	binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	12	Breast(11;2.08e-05)					TCATACAGTCGAGGGGGCTGA	0.617													8	194					0	0	0.004482	0	0	A	73714925	G	A	73714925	2	1	74	1	0	0	0	0	0	0	0	1	16992	1045	37	1		1	UCP3	11	73714925	Silent	SNP	G	TCGA-DU-5853-01A-11D-1893-08		73714925	61291591	15	3330											
KRT8	3856	broad.mit.edu	37	12	53293635	53293635	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-5853-01A-11D-1893-08	TCGA-DU-5853-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0750c06c-d62b-42d9-804a-a9b9d76b90ed	fb0e600b-10e0-43fb-b877-0981c762da9b	g.chr12:53293635C>T	ENST00000552551.1	-	6	1337	c.905G>A	c.(904-906)cGc>cAc	p.R302H	KRT8_ENST00000546897.1_Missense_Mutation_p.R302H|KRT8_ENST00000552150.1_Missense_Mutation_p.R330H|KRT8_ENST00000293308.6_Missense_Mutation_p.R302H			P05787	K2C8_HUMAN	keratin 8	302	Coil 2.|Necessary for interaction with PNN.|Rod.				cytoskeleton organization|interspecies interaction between organisms	cytoplasm|keratin filament|nuclear matrix|nucleoplasm	protein binding|structural molecule activity			endometrium(5)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	13				BRCA - Breast invasive adenocarcinoma(357;0.108)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AGTCTTTGTGCGCCGCAGGTC	0.602													30	35					0	0	0.007291	0	0	T	53293635	C	T	53293635	3	4	74	1	0	0	0	0	1	0	0	0	8536	768	27	1	562	1	KRT8	12	53293635	Missense_Mutation	SNP	C	TCGA-DU-5853-01A-11D-1893-08		53293635	80558260	16	3331											
ATP5B	506	broad.mit.edu	37	12	57036472	57036472	+	Silent	SNP	G	G	C			TCGA-DU-5853-01A-11D-1893-08	TCGA-DU-5853-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0750c06c-d62b-42d9-804a-a9b9d76b90ed	fb0e600b-10e0-43fb-b877-0981c762da9b	g.chr12:57036472G>C	ENST00000262030.3	-	6	986	c.936C>G	c.(934-936)acC>acG	p.T312T	ATP5B_ENST00000550162.1_5'UTR|ATP5B_ENST00000552919.1_Intron	NM_001686.3	NP_001677.2	P06576	ATPB_HUMAN	ATP synthase, H+ transporting, mitochondrial F1 complex, beta polypeptide	312					angiogenesis|ATP hydrolysis coupled proton transport|regulation of intracellular pH|respiratory electron transport chain	cell surface|mitochondrial nucleoid|mitochondrial proton-transporting ATP synthase, catalytic core|plasma membrane	ATP binding|eukaryotic cell surface binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|hydrogen-exporting ATPase activity, phosphorylative mechanism|MHC class I protein binding|proton-transporting ATPase activity, rotational mechanism			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						AACCAGCCTGGGTGAAGCGAA	0.483													25	67					0	0	0.00632	0	0	C	57036472	G	C	57036472	2	2	74	1	0	0	0	0	0	0	0	1	1147	1219	43	5		5	ATP5B	12	57036472	Silent	SNP	G	TCGA-DU-5853-01A-11D-1893-08	3742837	57036472	76815423	17	3332											
SLC5A8	160728	broad.mit.edu	37	12	101577979	101577979	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-5853-01A-11D-1893-08	TCGA-DU-5853-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0750c06c-d62b-42d9-804a-a9b9d76b90ed	fb0e600b-10e0-43fb-b877-0981c762da9b	g.chr12:101577979C>A	ENST00000536262.2	-	8	1543	c.985G>T	c.(985-987)Gac>Tac	p.D329Y		NM_145913.3	NP_666018.3	Q8N695	SC5A8_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8	329					apoptosis|sodium ion transport	apical plasma membrane|integral to membrane	monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity	p.D329N(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						TGCAGAATGTCCAGTACCAAA	0.348													9	48					0.000442599	0.000590132	0.006214	1	0	A	101577979	C	A	101577979	3	1	74	1	0	0	0	0	1	0	0	0	14726	855	30	5	879	5	SLC5A8	12	101577979	Missense_Mutation	SNP	C	TCGA-DU-5853-01A-11D-1893-08	44541507	101577979	32273916	18	3333											
SERPINA9	327657	broad.mit.edu	37	14	94929626	94929626	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-5853-01A-11D-1893-08	TCGA-DU-5853-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0750c06c-d62b-42d9-804a-a9b9d76b90ed	fb0e600b-10e0-43fb-b877-0981c762da9b	g.chr14:94929626T>A	ENST00000337425.5	-	5	1186	c.1112A>T	c.(1111-1113)cAc>cTc	p.H371L	SERPINA9_ENST00000298845.7_Missense_Mutation_p.H271L|SERPINA9_ENST00000448305.2_Missense_Mutation_p.H273L|SERPINA9_ENST00000380365.3_Missense_Mutation_p.H353L|RP11-349I1.2_ENST00000536735.1_RNA|SERPINA9_ENST00000424550.2_Missense_Mutation_p.H222L	NM_175739.3	NP_783866.2	Q86WD7	SPA9_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9	353				T -> A (in Ref. 1; AAO65242).	regulation of proteolysis	cytoplasm|extracellular region|membrane	serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(17)	21		all_cancers(154;0.0691)|all_epithelial(191;0.233)		Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24)		CACAGCCTTGTGGGTTGCCTG	0.502													14	75					0	0	0.003163	0	0	A	94929626	T	A	94929626	3	1	74	1	0	0	0	0	1	0	0	0	14149	1696	59	5	199	5	SERPINA9	14	94929626	Missense_Mutation	SNP	T	TCGA-DU-5853-01A-11D-1893-08		94929626	12419914	19	3334											
TP53	7157	broad.mit.edu	37	17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	rs121913343		TCGA-DU-5853-01A-11D-1893-08	TCGA-DU-5853-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0750c06c-d62b-42d9-804a-a9b9d76b90ed	fb0e600b-10e0-43fb-b877-0981c762da9b	g.chr17:7577121G>A	ENST00000420246.2	-	8	949	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000269305.4_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000455263.2_Missense_Mutation_p.R273C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	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).		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.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			33	4					0	0	0.002096	0	0	A	7577121	G	A	7577121	3	1	74	1	0	0	0	0	1	0	0	0	16442	1087	38	1	469	1	TP53	17	7577121	Missense_Mutation	SNP	G	TCGA-DU-5853-01A-11D-1893-08		7577121	73618089	20	3335											
CHAD	1101	broad.mit.edu	37	17	48543081	48543081	+	Missense_Mutation	SNP	G	G	A	rs138200891		TCGA-DU-5853-01A-11D-1893-08	TCGA-DU-5853-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0750c06c-d62b-42d9-804a-a9b9d76b90ed	fb0e600b-10e0-43fb-b877-0981c762da9b	g.chr17:48543081G>A	ENST00000508540.1	-	2	1077	c.925C>T	c.(925-927)Cgg>Tgg	p.R309W	ACSF2_ENST00000502667.1_Intron|ACSF2_ENST00000504392.1_Intron|CHAD_ENST00000258969.4_Missense_Mutation_p.R309W|ACSF2_ENST00000541920.1_Intron|ACSF2_ENST00000300441.4_Intron|ACSF2_ENST00000427954.2_Intron	NM_001267.2	NP_001258.2	O15335	CHAD_HUMAN	chondroadherin	309	LRRCT.				regulation of cell growth	proteinaceous extracellular matrix	extracellular matrix structural constituent			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(2)|ovary(2)	15	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			CGAAGGCCCCGGAGCTGGCAG	0.562													4	196					0	0	0.000602	0	0	A	48543081	G	A	48543081	3	1	74	1	0	0	0	0	1	0	0	0	3332	1115	39	1	162	1	CHAD	17	48543081	Missense_Mutation	SNP	G	TCGA-DU-5853-01A-11D-1893-08	40965960	48543081	32652129	21	3336											
DDX5	1655	broad.mit.edu	37	17	62500099	62500102	+	Splice_Site	DEL	ACAG	ACAG	-			TCGA-DU-5853-01A-11D-1893-08	TCGA-DU-5853-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0750c06c-d62b-42d9-804a-a9b9d76b90ed	fb0e600b-10e0-43fb-b877-0981c762da9b	g.chr17:62500099_62500102delACAG	ENST00000225792.5	-	4	841_843	c.440_442delCTGT	c.(439-444)tctgta>tta	p.SV147fs	DDX5_ENST00000450599.2_Intron|DDX5_ENST00000578804.1_Splice_Site_p.SV147fs	NM_004396.3	NP_004387.1	P17844	DDX5_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 5	147	Helicase ATP-binding.				cell growth|regulation of alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|mRNA binding|protein binding|RNA helicase activity|transcription cofactor activity			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	19	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;8.6e-12)			TCCCAAACTTACAGACAATGTTTT	0.397			T	ETV4	prostate								7	202	---	---	---	---						-	62500102	ACAG	-	62500099	8	5	74	1	0	1	0	1	0	0	1	0	4390	405	14	0	1441	0	DDX5	17	62500099	Splice_Site	DEL	ACAG	TCGA-DU-5853-01A-11D-1893-08	13957018	62500099	18695111	22	3337											
MUC16	94025	broad.mit.edu	37	19	9046747	9046747	+	Silent	SNP	T	T	A			TCGA-DU-5853-01A-11D-1893-08	TCGA-DU-5853-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0750c06c-d62b-42d9-804a-a9b9d76b90ed	fb0e600b-10e0-43fb-b877-0981c762da9b	g.chr19:9046747T>A	ENST00000397910.4	-	5	35087	c.34884A>T	c.(34882-34884)ccA>ccT	p.P11628P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11630	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TCACTACCCCTGGTATACTGG	0.512													16	147					0	0	0.00499	0	0	A	9046747	T	A	9046747	2	1	74	1	0	0	0	0	0	0	0	1	10021	1567	55	5		5	MUC16	19	9046747	Silent	SNP	T	TCGA-DU-5853-01A-11D-1893-08		9046747	50082236	23	3338											
PSG7	5676	broad.mit.edu	37	19	43439742	43439742	+	RNA	SNP	A	A	G			TCGA-DU-5853-01A-11D-1893-08	TCGA-DU-5853-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0750c06c-d62b-42d9-804a-a9b9d76b90ed	fb0e600b-10e0-43fb-b877-0981c762da9b	g.chr19:43439742A>G	ENST00000406070.2	-	0	340				PSG7_ENST00000446844.3_RNA	NM_002783.2	NP_002774.2	Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy	extracellular region							Prostate(69;0.00682)				TCTACTATATATGATGTAACA	0.418													23	446					0	0	0.001882	0	0	G	43439742	A	G	43439742	1	3	74	0	1	0	0	0	0	0	0	0	12709	449	16	3		3	PSG7	19	43439742	RNA	SNP	A	TCGA-DU-5853-01A-11D-1893-08	34392995	43439742	15689241	24	3339											
SIGLEC9	27180	broad.mit.edu	37	19	51628865	51628865	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-5853-01A-11D-1893-08	TCGA-DU-5853-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0750c06c-d62b-42d9-804a-a9b9d76b90ed	fb0e600b-10e0-43fb-b877-0981c762da9b	g.chr19:51628865A>T	ENST00000440804.3	+	2	500	c.433A>T	c.(433-435)Agg>Tgg	p.R145W	SIGLEC9_ENST00000250360.3_Missense_Mutation_p.R145W	NM_001198558.1	NP_001185487.1	Q9Y336	SIGL9_HUMAN	sialic acid binding Ig-like lectin 9	145					cell adhesion|cell surface receptor linked signaling pathway	integral to plasma membrane	sugar binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	45		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)		CTTGACCCACAGGCCCAACAT	0.642													5	221					0	0	0.001168	0	0	T	51628865	A	T	51628865	3	4	74	1	0	0	0	0	1	0	0	0	14370	179	7	5	439	5	SIGLEC9	19	51628865	Missense_Mutation	SNP	A	TCGA-DU-5853-01A-11D-1893-08	8189123	51628865	7500118	25	3340											
NKX2-2	4821	broad.mit.edu	37	20	21492966	21492966	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-5853-01A-11D-1893-08	TCGA-DU-5853-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0750c06c-d62b-42d9-804a-a9b9d76b90ed	fb0e600b-10e0-43fb-b877-0981c762da9b	g.chr20:21492966C>G	ENST00000377142.4	-	2	773	c.417G>C	c.(415-417)caG>caC	p.Q139H		NM_002509.3	NP_002500.1	O95096	NKX22_HUMAN	NK2 homeobox 2	139					brain development|positive regulation of sequence-specific DNA binding transcription factor activity	nucleus	chromatin binding|core promoter proximal region DNA binding|transcription coactivator activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						GCTCGTAGGTCTGCGCCTTGG	0.692													16	26					0	0	0.006122	0	0	G	21492966	C	G	21492966	3	3	74	1	0	0	0	0	1	0	0	0	10497	912	32	4	408	4	NKX2-2	20	21492966	Missense_Mutation	SNP	C	TCGA-DU-5853-01A-11D-1893-08		21492966	41532554	26	3341											
COL6A1	1291	broad.mit.edu	37	21	47409674	47409674	+	Silent	SNP	A	A	G			TCGA-DU-5853-01A-11D-1893-08	TCGA-DU-5853-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0750c06c-d62b-42d9-804a-a9b9d76b90ed	fb0e600b-10e0-43fb-b877-0981c762da9b	g.chr21:47409674A>G	ENST00000361866.3	+	11	1026	c.912A>G	c.(910-912)aaA>aaG	p.K304K		NM_001848.2	NP_001839.2	P12109	CO6A1_HUMAN	collagen, type VI, alpha 1	304	Triple-helical region.				axon guidance|cell adhesion|protein heterotrimerization	collagen type VI|protein complex	platelet-derived growth factor binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	all_hematologic(128;0.24)			Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)	Palifermin(DB00039)	AGGGAGAAAAAGGGAGCCGTG	0.637													3	109					0	0	0.004672	0	0	G	47409674	A	G	47409674	2	3	74	1	0	0	0	0	0	0	0	1	3722	69	3	3		3	COL6A1	21	47409674	Silent	SNP	A	TCGA-DU-5853-01A-11D-1893-08		47409674	720221	27	3342											
PATZ1	23598	broad.mit.edu	37	22	31740738	31740738	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-5853-01A-11D-1893-08	TCGA-DU-5853-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0750c06c-d62b-42d9-804a-a9b9d76b90ed	fb0e600b-10e0-43fb-b877-0981c762da9b	g.chr22:31740738C>T	ENST00000266269.5	-	1	1480	c.851G>A	c.(850-852)gGg>gAg	p.G284E	PATZ1_ENST00000405309.3_Missense_Mutation_p.G284E|PATZ1_ENST00000351933.4_Missense_Mutation_p.G284E|PATZ1_ENST00000215919.3_Missense_Mutation_p.G284E	NM_014323.2	NP_055138.2	Q9HBE1	PATZ1_HUMAN	POZ (BTB) and AT hook containing zinc finger 1	284					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding		EWSR1/PATZ1(2)	NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(2)	12						CCTCAGGCCCCCTGGGGACCC	0.652													6	18					0	0	0.00308	0	0	T	31740738	C	T	31740738	3	4	74	1	0	0	0	0	1	0	0	0	11523	623	22	2	1515	2	PATZ1	22	31740738	Missense_Mutation	SNP	C	TCGA-DU-5853-01A-11D-1893-08		31740738	19563828	28	3343											
ATRX	546	broad.mit.edu	37	X	76845411	76845411	+	Splice_Site	SNP	C	C	T			TCGA-DU-5853-01A-11D-1893-08	TCGA-DU-5853-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0750c06c-d62b-42d9-804a-a9b9d76b90ed	fb0e600b-10e0-43fb-b877-0981c762da9b	g.chrX:76845411C>T	ENST00000373344.5	-	27	6325		c.e27-1		ATRX_ENST00000480283.1_Splice_Site|ATRX_ENST00000395603.3_Splice_Site	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked						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)	GAAAACAAGGCTAAAAAAACA	0.323			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						23	6					0	0	0.001882	0	0	T	76845411	C	T	76845411	5	4	74	1	0	0	0	0	0	0	1	0	1206	811	28	2	1404	2	ATRX	23	76845411	Splice_Site	SNP	C	TCGA-DU-5853-01A-11D-1893-08		76845411	78425149	29	3344											
C1orf158	93190	broad.mit.edu	37	1	12820859	12820859	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chr1:12820859G>A	ENST00000288048.5	+	4	776	c.560G>A	c.(559-561)cGc>cAc	p.R187H	C1orf158_ENST00000376210.3_Missense_Mutation_p.R149H	NM_152290.2	NP_689503.2	Q8N1D5	CA158_HUMAN	chromosome 1 open reading frame 158	187								p.R187P(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(1)|ovary(1)|skin(2)|urinary_tract(3)	10	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00575)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		CCTCCCCATCGCCTGCATCCT	0.577													7	35					0	0	0.27861	0	0	A	12820859	G	A	12820859	3	1	75	1	0	0	0	0	1	0	0	0	2020	1087	38	1	574	1	C1orf158	1	12820859	Missense_Mutation	SNP	G	TCGA-DU-5854-01A-11D-1705-08		12820859	236429762	1	3345											
EDN2	1907	broad.mit.edu	37	1	41948222	41948222	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chr1:41948222G>A	ENST00000372587.4	-	3	328	c.259C>T	c.(259-261)Cgc>Tgc	p.R87C	EDN2_ENST00000490783.1_5'UTR	NM_001956.3	NP_001947.1	P20800	EDN2_HUMAN	endothelin 2	87					artery smooth muscle contraction|calcium-mediated signaling|cytokine-mediated signaling pathway|elevation of cytosolic calcium ion concentration|hormonal regulation of the force of heart contraction|inositol phosphate-mediated signaling|macrophage activation|macrophage chemotaxis|neutrophil chemotaxis|positive regulation of cell proliferation|positive regulation of heart rate|positive regulation of leukocyte chemotaxis|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of the force of heart contraction by chemical signal|prostaglandin biosynthetic process|regulation of systemic arterial blood pressure by endothelin|regulation of vasoconstriction|vein smooth muscle contraction	extracellular space	endothelin B receptor binding|hormone activity			endometrium(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	8	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CGGCGCCGGCGTCTTGGCGGG	0.642													9	24					0	0	0.307466	0	0	A	41948222	G	A	41948222	3	1	75	1	0	0	0	0	1	0	0	0	4943	1145	40	1	289	1	EDN2	1	41948222	Missense_Mutation	SNP	G	TCGA-DU-5854-01A-11D-1705-08	29127363	41948222	207302399	2	3346											
SNX7	51375	broad.mit.edu	37	1	99157205	99157205	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chr1:99157205A>G	ENST00000370189.5	+	5	761	c.397A>G	c.(397-399)Act>Gct	p.T133A	SNX7_ENST00000306121.3_Missense_Mutation_p.T197A|SNX7_ENST00000529992.1_Intron			Q9UNH6	SNX7_HUMAN	sorting nexin 7	133	PX.				cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding|protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	13		all_epithelial(167;7.64e-07)|all_lung(203;0.0006)|Lung NSC(277;0.00137)		Epithelial(280;0.0521)|all cancers(265;0.0687)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.207)|Colorectal(170;0.234)		TGATCATCCAACTTTAACATT	0.328													11	43					0	0	0.361761	0	0	G	99157205	A	G	99157205	3	3	75	1	0	0	0	0	1	0	0	0	14961	43	2	3	603	3	SNX7	1	99157205	Missense_Mutation	SNP	A	TCGA-DU-5854-01A-11D-1705-08	57208983	99157205	150093416	3	3347											
OR10J3	441911	broad.mit.edu	37	1	159283478	159283478	+	Silent	SNP	C	C	T			TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chr1:159283478C>T	ENST00000332217.5	-	1	971	c.972G>A	c.(970-972)gcG>gcA	p.A324A		NM_001004467.1	NP_001004467.1	Q5JRS4	O10J3_HUMAN	olfactory receptor, family 10, subfamily J, member 3	324					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A324A(1)		breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	47	all_hematologic(112;0.0429)					TATTTATAAACGCAAAGGAAA	0.398													7	60					0	0	0.248553	0	0	T	159283478	C	T	159283478	2	4	75	1	0	0	0	0	0	0	0	1	10959	523	19	1		1	OR10J3	1	159283478	Silent	SNP	C	TCGA-DU-5854-01A-11D-1705-08	60126273	159283478	89967143	4	3348											
SLC45A3	85414	broad.mit.edu	37	1	205628648	205628648	+	Missense_Mutation	SNP	G	G	A	rs140263007	byFrequency	TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chr1:205628648G>A	ENST00000367145.3	-	5	1671	c.1376C>T	c.(1375-1377)gCg>gTg	p.A459V	SLC45A3_ENST00000460934.1_5'UTR	NM_033102.2	NP_149093.1	Q96JT2	S45A3_HUMAN	solute carrier family 45, member 3	459					transmembrane transport	integral to membrane			SLC45A3/BRAF(2)|SLC45A3/ELK4(18)|SLC45A3/ETV1(3)|SLC45A3/ETV5_ENST00000306376(2)|SLC45A3/ERG(50)	cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|ovary(3)|prostate(5)	21	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0194)			CCCGCAGAGCGCGGGTGGAGG	0.677			T	"ETV1, ETV5, ELK4, ERG"	prostate						OREG0014161	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	8					0	0	0.248553	0	0	A	205628648	G	A	205628648	3	1	75	1	0	0	0	0	1	0	0	0	14697	1087	38	1	289	1	SLC45A3	1	205628648	Missense_Mutation	SNP	G	TCGA-DU-5854-01A-11D-1705-08	46345170	205628648	43621973	5	3349											
HEATR1	55127	broad.mit.edu	37	1	236766587	236766587	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chr1:236766587C>G	ENST00000366582.3	-	3	346	c.232G>C	c.(232-234)Gag>Cag	p.E78Q	HEATR1_ENST00000366581.2_Missense_Mutation_p.E78Q|HEATR1_ENST00000366579.1_Missense_Mutation_p.E78Q	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	78					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			ACACTTCGCTCCAAGGTTTTT	0.418													14	48					0	0	0.479597	0	0	G	236766587	C	G	236766587	3	3	75	1	0	0	0	0	1	0	0	0	7068	864	30	5	6374	5	HEATR1	1	236766587	Missense_Mutation	SNP	C	TCGA-DU-5854-01A-11D-1705-08	31137939	236766587	12484034	6	3350											
OR2L8	391190	broad.mit.edu	37	1	248112581	248112581	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chr1:248112581T>A	ENST00000357191.3	+	1	422	c.422T>A	c.(421-423)gTg>gAg	p.V141E	OR2L13_ENST00000366478.2_Intron	NM_001001963.1	NP_001001963.1	Q8NGY9	OR2L8_HUMAN	olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene)	141					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			AGAGTGTGTGTGCTGATGATA	0.448													49	133					0	0	0.870114	0	0	A	248112581	T	A	248112581	3	1	75	1	0	0	0	0	1	0	0	0	11057	1696	59	5	424	5	OR2L8	1	248112581	Missense_Mutation	SNP	T	TCGA-DU-5854-01A-11D-1705-08	11345994	248112581	1138040	7	3351											
CCDC108	255101	broad.mit.edu	37	2	219868992	219868992	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chr2:219868992G>A	ENST00000341552.5	-	33	5320	c.5237C>T	c.(5236-5238)cCg>cTg	p.P1746L	CCDC108_ENST00000453220.1_Missense_Mutation_p.P1746L|CCDC108_ENST00000441968.1_Missense_Mutation_p.P1746L|AC097468.4_ENST00000441450.1_RNA	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	1746						integral to membrane	structural molecule activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GTCTTCCTTCGGCTGCTTGCC	0.532													29	66					0	0	0.717897	0	0	A	219868992	G	A	219868992	3	1	75	1	0	0	0	0	1	0	0	0	2761	1116	39	1	552	1	CCDC108	2	219868992	Missense_Mutation	SNP	G	TCGA-DU-5854-01A-11D-1705-08		219868992	23330381	8	3352											
STT3B	201595	broad.mit.edu	37	3	31641930	31641931	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chr3:31641930_31641931insA	ENST00000295770.2	+	5	1065_1066	c.856_857insA	c.(856-858)tacfs	p.Y286fs	STT3B_ENST00000453168.1_3'UTR	NM_178862.1	NP_849193.1	Q8TCJ2	STT3B_HUMAN	STT3B, subunit of the oligosaccharyltransferase complex (catalytic)	286					protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding			autonomic_ganglia(1)|biliary_tract(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	19						GATGCAGAGATACAGCAAAAGA	0.322													9	28	---	---	---	---						A	31641931	-	A	31641930	7	5	75	1	0	1	1	0	0	0	0	0	15390	1406	49	0	874	0	STT3B	3	31641930	Frame_Shift_Ins	INS	-	TCGA-DU-5854-01A-11D-1705-08		31641930	166380500	9	3353											
OR5H14	403273	broad.mit.edu	37	3	97868995	97868995	+	Missense_Mutation	SNP	G	G	A	rs148799830		TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chr3:97868995G>A	ENST00000437310.1	+	1	826	c.766G>A	c.(766-768)Gcc>Acc	p.A256T		NM_001005514.1	NP_001005514.1	A6NHG9	O5H14_HUMAN	olfactory receptor, family 5, subfamily H, member 14	256					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						TGGGCCCCTCGCCTTCATGTA	0.413													18	39					0	0	0.520397	0	0	A	97868995	G	A	97868995	3	1	75	1	0	0	0	0	1	0	0	0	11207	1087	38	1	768	1	OR5H14	3	97868995	Missense_Mutation	SNP	G	TCGA-DU-5854-01A-11D-1705-08	66227065	97868995	100153435	10	3354											
KALRN	8997	broad.mit.edu	37	3	124393414	124393414	+	Silent	SNP	G	G	A			TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chr3:124393414G>A	ENST00000291478.5	+	16	2218	c.2055G>A	c.(2053-2055)gcG>gcA	p.A685A	KALRN_ENST00000360013.3_Silent_p.A2382A|KALRN_ENST00000428018.2_Silent_p.A653A|KALRN_ENST00000459915.1_Silent_p.A473A|KALRN_ENST00000393496.1_Silent_p.A722A	NM_007064.3	NP_008995.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase		Poly-Gln.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						GCATCCTGGCGCCCCTCACCA	0.592													3	15					0	0	0.150653	0	0	A	124393414	G	A	124393414	2	1	75	1	0	0	0	0	0	0	0	1	8019	1074	38	1		1	KALRN	3	124393414	Silent	SNP	G	TCGA-DU-5854-01A-11D-1705-08	26524419	124393414	73629016	11	3355											
MECOM	2122	broad.mit.edu	37	3	168833251	168833251	+	Frame_Shift_Del	DEL	G	G	-	rs141957464	byFrequency	TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chr3:168833251delG	ENST00000464456.1	-	7	3045	c.1845delC	c.(1843-1845)agcfs	p.S615fs	MECOM_ENST00000494292.1_Frame_Shift_Del_p.S803fs|MECOM_ENST00000433243.2_Frame_Shift_Del_p.S616fs|MECOM_ENST00000264674.3_Frame_Shift_Del_p.S680fs|MECOM_ENST00000468789.1_Frame_Shift_Del_p.S615fs|MECOM_ENST00000460814.1_Frame_Shift_Del_p.S615fs|MECOM_ENST00000392736.3_Frame_Shift_Del_p.S615fs|MECOM_ENST00000472280.1_Frame_Shift_Del_p.S616fs	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	24							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						ATTCGACGTTGCTTCCTTTTT	0.488													15	35	---	---	---	---						-	168833251	G	-	168833251	7	5	75	1	0	1	0	1	0	0	0	0	9472	1310	46	0	1350	0	MECOM	3	168833251	Frame_Shift_Del	DEL	G	TCGA-DU-5854-01A-11D-1705-08	44439837	168833251	29189179	12	3356											
ZNF518B	85460	broad.mit.edu	37	4	10445887	10445887	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chr4:10445887C>T	ENST00000326756.3	-	3	2504	c.2066G>A	c.(2065-2067)cGt>cAt	p.R689H		NM_053042.2	NP_444270.2	Q9C0D4	Z518B_HUMAN	zinc finger protein 518B	689					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						TACAGAGCGACGATGTGCACT	0.448													22	94					0	0	0.592651	0	0	T	10445887	C	T	10445887	3	4	75	1	0	0	0	0	1	0	0	0	18020	536	19	1	1162	1	ZNF518B	4	10445887	Missense_Mutation	SNP	C	TCGA-DU-5854-01A-11D-1705-08		10445887	180708389	13	3357											
PDGFRA	5156	broad.mit.edu	37	4	55139758	55139758	+	Silent	SNP	C	C	T			TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chr4:55139758C>T	ENST00000257290.5	+	10	1750	c.1419C>T	c.(1417-1419)atC>atT	p.I473I	FIP1L1_ENST00000507166.1_Intron	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	473	Ig-like C2-type 5.				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	CAAACATCATCACGGAGATCC	0.498			"Mis, O, T"	FIP1L1	"GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			26	30					0	0	0.706142	0	0	T	55139758	C	T	55139758	2	4	75	1	0	0	0	0	0	0	0	1	11708	816	29	2		2	PDGFRA	4	55139758	Silent	SNP	C	TCGA-DU-5854-01A-11D-1705-08	44693871	55139758	136014518	14	3358											
AGA	175	broad.mit.edu	37	4	178361475	178361475	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chr4:178361475C>T	ENST00000264595.2	-	2	360	c.233G>A	c.(232-234)aGt>aAt	p.S78N	AGA_ENST00000506853.1_5'UTR	NM_000027.3|NM_001171988.1	NP_000018.2|NP_001165459.1	P20933	ASPG_HUMAN	aspartylglucosaminidase	78					asparagine catabolic process via L-aspartate|protein deglycosylation|protein maturation	endoplasmic reticulum|intermediate filament cytoskeleton|lysosome|microtubule cytoskeleton	N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity			endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|skin(2)	16		all_lung(41;1.27e-09)|Lung NSC(41;1.1e-08)|Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Hepatocellular(41;0.148)|all_neural(102;0.164)|Colorectal(36;0.245)		all cancers(43;1.37e-22)|Epithelial(43;3.86e-20)|OV - Ovarian serous cystadenocarcinoma(60;3.8e-11)|Colorectal(24;6.98e-05)|GBM - Glioblastoma multiforme(59;0.000362)|COAD - Colon adenocarcinoma(29;0.000462)|STAD - Stomach adenocarcinoma(60;0.0029)|LUSC - Lung squamous cell carcinoma(193;0.0328)|READ - Rectum adenocarcinoma(43;0.163)		TTCATCAGGACTTCCTCCAAA	0.493													27	85					0	0	0.729181	0	0	T	178361475	C	T	178361475	3	4	75	1	0	0	0	0	1	0	0	0	364	565	20	2	839	2	AGA	4	178361475	Missense_Mutation	SNP	C	TCGA-DU-5854-01A-11D-1705-08	123221717	178361475	12792801	15	3359											
GABRA1	2554	broad.mit.edu	37	5	161324340	161324340	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chr5:161324340C>T	ENST00000428797.2	+	11	1638	c.1283C>T	c.(1282-1284)cCg>cTg	p.P428L	GABRA1_ENST00000420560.1_Missense_Mutation_p.P428L|GABRA1_ENST00000023897.6_Missense_Mutation_p.P428L|GABRA1_ENST00000393943.4_Missense_Mutation_p.P428L|GABRA1_ENST00000437025.2_Missense_Mutation_p.P428L|GABRA1_ENST00000444819.1_Missense_Mutation_p.P428L	NM_001127643.1	NP_001121115.1	P14867	GBRA1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 1	428					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425)	ATAGCCTTCCCGCTGCTATTT	0.423													34	78					0	0	0.750413	0	0	T	161324340	C	T	161324340	3	4	75	1	0	0	0	0	1	0	0	0	6195	652	23	1	1317	1	GABRA1	5	161324340	Missense_Mutation	SNP	C	TCGA-DU-5854-01A-11D-1705-08		161324340	19590920	16	3360											
RNF130	55819	broad.mit.edu	37	5	179393883	179393883	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chr5:179393883C>T	ENST00000522208.2	-	7	1091	c.1073G>A	c.(1072-1074)cGa>cAa	p.R358Q	RNF130_ENST00000261947.4_Missense_Mutation_p.R358Q|RNF130_ENST00000521389.1_Missense_Mutation_p.R358Q			Q86XS8	GOLI_HUMAN	ring finger protein 130	358					apoptosis	cytoplasm|integral to membrane|nucleus	ubiquitin-protein ligase activity|zinc ion binding			breast(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	17	all_cancers(89;5.49e-05)|all_epithelial(37;1.94e-05)|Renal(175;0.000159)|Lung NSC(126;0.00118)|all_lung(126;0.00212)	all_cancers(40;0.0294)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCCCGAAGTTCGAAGTGGCTC	0.562													12	49					0	0	0.411799	0	0	T	179393883	C	T	179393883	3	4	75	1	0	0	0	0	1	0	0	0	13490	884	31	1	198	1	RNF130	5	179393883	Missense_Mutation	SNP	C	TCGA-DU-5854-01A-11D-1705-08	18069543	179393883	1521377	17	3361											
FANCE	2178	broad.mit.edu	37	6	35427183	35427183	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chr6:35427183C>A	ENST00000229769.2	+	6	1374	c.1189C>A	c.(1189-1191)Cct>Act	p.P397T		NM_021922.2	NP_068741.1	Q9HB96	FANCE_HUMAN	Fanconi anemia, complementation group E	397					DNA repair	nucleoplasm	protein binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(1)|skin(2)	13						ATATACATACCCTGTCTGCAG	0.567			"N, F, S"			"AML, leukemia"		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				4	58					0.00909568	0.00948	0.150653	1	0	A	35427183	C	A	35427183	3	1	75	1	0	0	0	0	1	0	0	0	5699	623	22	5	1211	5	FANCE	6	35427183	Missense_Mutation	SNP	C	TCGA-DU-5854-01A-11D-1705-08		35427183	135687884	18	3362											
FAM83B	222584	broad.mit.edu	37	6	54735366	54735366	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chr6:54735366T>C	ENST00000306858.7	+	2	438	c.322T>C	c.(322-324)Tgg>Cgg	p.W108R		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	108										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					TGACTTAGGCTGGCCATATGT	0.458													23	83					0	0	0.624587	0	0	C	54735366	T	C	54735366	3	2	75	1	0	0	0	0	1	0	0	0	5666	1580	55	3	324	3	FAM83B	6	54735366	Missense_Mutation	SNP	T	TCGA-DU-5854-01A-11D-1705-08	19308183	54735366	116379701	19	3363											
RFX6	222546	broad.mit.edu	37	6	117248565	117248565	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chr6:117248565C>T	ENST00000332958.2	+	17	2277	c.2261C>T	c.(2260-2262)cCg>cTg	p.P754L		NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	754					glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						TCCCGGCCACCGTCTAGCTAT	0.517													7	35					0	0	0.27861	0	0	T	117248565	C	T	117248565	3	4	75	1	0	0	0	0	1	0	0	0	13319	652	23	1	2327	1	RFX6	6	117248565	Missense_Mutation	SNP	C	TCGA-DU-5854-01A-11D-1705-08	62513199	117248565	53866502	20	3364											
LPA	4018	broad.mit.edu	37	6	161006128	161006128	+	Silent	SNP	C	C	T			TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chr6:161006128C>T	ENST00000447678.1	-	27	4359	c.4239G>A	c.(4237-4239)tcG>tcA	p.S1413S	LPA_ENST00000316300.5_Silent_p.S1413S	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN	lipoprotein, Lp(a)	3921	Kringle 13.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity	p.S1413S(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	GTGTCATAGACGACCAAGACT	0.448													31	143					0	0	0.717897	0	0	T	161006128	C	T	161006128	2	4	75	1	0	0	0	0	0	0	0	1	8948	523	19	1		1	LPA	6	161006128	Silent	SNP	C	TCGA-DU-5854-01A-11D-1705-08	43757563	161006128	10108939	21	3365											
ZNF804B	219578	broad.mit.edu	37	7	88965634	88965634	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chr7:88965634A>G	ENST00000333190.4	+	4	3947	c.3338A>G	c.(3337-3339)aAt>aGt	p.N1113S		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	1113						intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			GTAGAGGGAAATATAAACTCT	0.353										HNSCC(36;0.09)			16	68					0	0	0.479597	0	0	G	88965634	A	G	88965634	3	3	75	1	0	0	0	0	1	0	0	0	18220	101	4	3	3352	3	ZNF804B	7	88965634	Missense_Mutation	SNP	A	TCGA-DU-5854-01A-11D-1705-08		88965634	70173029	22	3366											
COL1A2	1278	broad.mit.edu	37	7	94038721	94038721	+	Missense_Mutation	SNP	G	G	A	rs145693444	byFrequency	TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chr7:94038721G>A	ENST00000297268.6	+	17	1351	c.880G>A	c.(880-882)Gtt>Att	p.V294I		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	294					axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	CTCCGGCCCCGTTGGACCTCC	0.502										HNSCC(75;0.22)			28	76					0	0	0.769981	0	0	A	94038721	G	A	94038721	3	1	75	1	0	0	0	0	1	0	0	0	3701	1145	40	1	946	1	COL1A2	7	94038721	Missense_Mutation	SNP	G	TCGA-DU-5854-01A-11D-1705-08	5073087	94038721	65099942	23	3367											
PLXNA4	91584	broad.mit.edu	37	7	131859587	131859587	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chr7:131859587G>A	ENST00000359827.3	-	21	4929	c.3967C>T	c.(3967-3969)Cgg>Tgg	p.R1323W	PLXNA4_ENST00000321063.4_Missense_Mutation_p.R1323W			Q9HCM2	PLXA4_HUMAN	plexin A4	1323						integral to membrane|intracellular|plasma membrane		p.R1323W(3)		NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						AACAGCACCCGCATGGTGTAA	0.582													34	116					0	0	0.779181	0	0	A	131859587	G	A	131859587	3	1	75	1	0	0	0	0	1	0	0	0	12170	1086	38	1	1765	1	PLXNA4	7	131859587	Missense_Mutation	SNP	G	TCGA-DU-5854-01A-11D-1705-08	37820866	131859587	27279076	24	3368											
TRPV6	55503	broad.mit.edu	37	7	142573227	142573227	+	Silent	SNP	T	T	C			TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chr7:142573227T>C	ENST00000359396.3	-	8	1361	c.1116A>G	c.(1114-1116)ctA>ctG	p.L372L		NM_018646.3	NP_061116	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel, subfamily V, member 6	372					regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					TCACCTGAAGTAGCTTCTGCT	0.572													15	53					0	0	0.479597	0	0	C	142573227	T	C	142573227	2	2	75	1	0	0	0	0	0	0	0	1	16661	1625	57	3		3	TRPV6	7	142573227	Silent	SNP	T	TCGA-DU-5854-01A-11D-1705-08	10713640	142573227	16565436	25	3369											
ZNF282	8427	broad.mit.edu	37	7	148910879	148910879	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chr7:148910879G>A	ENST00000262085.3	+	7	1258	c.1153G>A	c.(1153-1155)Gga>Aga	p.G385R	ZNF282_ENST00000479907.1_Missense_Mutation_p.G385R	NM_003575.2	NP_003566.1	Q9UDV7	ZN282_HUMAN	zinc finger protein 282	385					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(3)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	17	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00171)	Lung(243;0.145)		CTCAATGGACGGAGAGCTTGG	0.542													3	30					0	0	0.115264	0	0	A	148910879	G	A	148910879	3	1	75	1	0	0	0	0	1	0	0	0	17877	1117	39	1	1179	1	ZNF282	7	148910879	Missense_Mutation	SNP	G	TCGA-DU-5854-01A-11D-1705-08	6337652	148910879	10227784	26	3370											
RNF32	140545	broad.mit.edu	37	7	156437272	156437272	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chr7:156437272G>A	ENST00000392741.2	+	2	183	c.95G>A	c.(94-96)cGa>cAa	p.R32Q	RNF32_ENST00000311822.8_Missense_Mutation_p.R32Q|RNF32_ENST00000317955.5_Missense_Mutation_p.R32Q|RNF32_ENST00000432459.2_Missense_Mutation_p.R32Q|RNF32_ENST00000392743.2_Missense_Mutation_p.R32Q|RNF32_ENST00000343665.4_Missense_Mutation_p.R32Q|RNF32_ENST00000392740.1_Missense_Mutation_p.R32Q|RNF32_ENST00000405335.1_Missense_Mutation_p.R32Q			Q9H0A6	RNF32_HUMAN	ring finger protein 32	32						aggresome|endosome	protein binding|zinc ion binding			cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(2)	15	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00291)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		CTTCAACTTCGAAATCTTTCA	0.328													12	40					0	0	0.38729	0	0	A	156437272	G	A	156437272	3	1	75	1	0	0	0	0	1	0	0	0	13540	1058	37	1	101	1	RNF32	7	156437272	Missense_Mutation	SNP	G	TCGA-DU-5854-01A-11D-1705-08	7526393	156437272	2701391	27	3371											
NRG1	3084	broad.mit.edu	37	8	32621577	32621577	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chr8:32621577C>T	ENST00000338921.4	+	13	2121	c.1604C>T	c.(1603-1605)aCg>aTg	p.T535M	NRG1_ENST00000287842.3_Missense_Mutation_p.T524M|NRG1_ENST00000356819.4_Missense_Mutation_p.T532M|NRG1_ENST00000341377.5_3'UTR|NRG1_ENST00000287845.5_Missense_Mutation_p.T498M|NRG1_ENST00000519301.1_Missense_Mutation_p.T477M|NRG1_ENST00000539990.1_Missense_Mutation_p.T370M|NRG1_ENST00000405005.3_Missense_Mutation_p.T527M			Q02297	NRG1_HUMAN	neuregulin 1	527				Q -> R (in Ref. 2; AAA19951).	activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	cytokine activity|ErbB-3 class receptor binding|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		GAGTATGAAACGACCCAAGAG	0.552													9	19					0	0	0.307466	0	0	T	32621577	C	T	32621577	3	4	75	1	0	0	0	0	1	0	0	0	10695	536	19	1	3351	1	NRG1	8	32621577	Missense_Mutation	SNP	C	TCGA-DU-5854-01A-11D-1705-08		32621577	113742445	28	3372											
RAB11FIP1	80223	broad.mit.edu	37	8	37729072	37729072	+	Missense_Mutation	SNP	G	G	T	rs146365728		TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chr8:37729072G>T	ENST00000330843.4	-	4	3260	c.3248C>A	c.(3247-3249)cCa>cAa	p.P1083Q	RAB11FIP1_ENST00000522727.1_Intron|RAB11FIP1_ENST00000523182.1_5'UTR|RAB11FIP1_ENST00000287263.4_Intron|RAB11FIP1_ENST00000524118.1_Intron	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 (class I)	1083					protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding			NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			AGGCGGGCTTGGACTCCCATT	0.542											OREG0018713	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	60	186					1.34159e-35	1.52735e-35	0.870114	1	0	T	37729072	G	T	37729072	3	4	75	1	0	0	0	0	1	0	0	0	12945	1348	47	5	615	5	RAB11FIP1	8	37729072	Missense_Mutation	SNP	G	TCGA-DU-5854-01A-11D-1705-08	5107495	37729072	108634950	29	3373											
RPL7	6129	broad.mit.edu	37	8	74205020	74205022	+	In_Frame_Del	DEL	CTT	CTT	-	rs151181576		TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chr8:74205020_74205022delCTT	ENST00000352983.2	-	2	310_312	c.25_27delAAG	c.(25-27)aagdel	p.K9del	RPL7_ENST00000396466.1_5'UTR|RPL7_ENST00000396467.1_5'UTR|RPL7_ENST00000396465.1_5'UTR			P18124	RL7_HUMAN	ribosomal protein L7	9	4 X 12 AA tandem repeats.				endocrine pancreas development|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	DNA binding|mRNA binding|protein homodimerization activity|structural constituent of ribosome			breast(1)|kidney(1)|large_intestine(2)|lung(1)	5	Breast(64;0.0954)		Epithelial(68;0.0193)|all cancers(69;0.0766)|BRCA - Breast invasive adenocarcinoma(89;0.134)			CAGGAACCTCCTTCTTCTTCTCT	0.414													11	56	---	---	---	---						-	74205022	CTT	-	74205020	7	5	75	1	0	1	0	1	0	0	0	0	13651	680	24	0	739	0	RPL7	8	74205020	In_Frame_Del	DEL	CTT	TCGA-DU-5854-01A-11D-1705-08	36475948	74205020	72159002	30	3374											
JRK	8629	broad.mit.edu	37	8	143746154	143746154	+	RNA	DEL	C	C	-			TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chr8:143746154delC	ENST00000507178.2	-	0	1656									jerky homolog (mouse)													all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;2.31e-05)				cttcccgctaccccccagctg	0.637													5	6	---	---	---	---						-	143746154	C	-	143746154	6	5	75	0	1	1	0	1	0	0	0	0	8008	507	18	0		0	JRK	8	143746154	RNA	DEL	C	TCGA-DU-5854-01A-11D-1705-08	69541134	143746154	2617868	31	3375											
RECK	8434	broad.mit.edu	37	9	36102223	36102223	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chr9:36102223C>A	ENST00000377966.3	+	12	1997	c.1431C>A	c.(1429-1431)taC>taA	p.Y477*		NM_021111.2	NP_066934.1	O95980	RECK_HUMAN	reversion-inducing-cysteine-rich protein with kazal motifs	477						anchored to membrane|peripheral to membrane of membrane fraction|plasma membrane	metalloendopeptidase inhibitor activity|serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228)			TGGATACATACCTCAGTAAGT	0.343													9	50					3.86212e-05	4.20289e-05	0.361761	1	0	A	36102223	C	A	36102223	4	1	75	1	0	0	0	0	0	1	0	0	13252	518	18	5	1477	5	RECK	9	36102223	Nonsense_Mutation	SNP	C	TCGA-DU-5854-01A-11D-1705-08		36102223	105111208	32	3376											
LMX1B	4010	broad.mit.edu	37	9	129453250	129453250	+	Silent	SNP	C	C	T			TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chr9:129453250C>T	ENST00000355497.5	+	3	469	c.462C>T	c.(460-462)gaC>gaT	p.D154D	LMX1B_ENST00000561065.1_Silent_p.D131D|LMX1B_ENST00000373474.4_Silent_p.D154D|LMX1B_ENST00000526117.1_Silent_p.D154D|LMX1B_ENST00000425646.2_Silent_p.D131D	NM_001174146.1	NP_001167617.1	O60663	LMX1B_HUMAN	LIM homeobox transcription factor 1, beta	131					dorsal/ventral pattern formation|in utero embryonic development	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	15						GCAAGGGCGACGAATTCGTGC	0.637									Nail-Patella Syndrome				4	23					0	0	0.150653	0	0	T	129453250	C	T	129453250	2	4	75	1	0	0	0	0	0	0	0	1	8903	535	19	1		1	LMX1B	9	129453250	Silent	SNP	C	TCGA-DU-5854-01A-11D-1705-08	93351027	129453250	11760181	33	3377											
RRAS2	22800	broad.mit.edu	37	11	14303174	14303174	+	Silent	SNP	A	A	C			TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chr11:14303174A>C	ENST00000545643.1	-	5	832	c.519T>G	c.(517-519)gcT>gcG	p.A173A	RRAS2_ENST00000534746.1_Silent_p.A90A|RRAS2_ENST00000414023.2_Silent_p.A90A|RRAS2_ENST00000532814.1_Silent_p.A90A|RRAS2_ENST00000537760.1_Silent_p.A132A|RRAS2_ENST00000526063.1_Silent_p.A90A|RRAS2_ENST00000256196.4_Silent_p.A167A|RRAS2_ENST00000529237.1_Silent_p.A90A	NM_012250.5	NP_036382.2	P62070	RRAS2_HUMAN	related RAS viral (r-ras) oncogene homolog 2	167						endoplasmic reticulum|plasma membrane	GTP binding|GTPase activity|protein binding			breast(3)|endometrium(4)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	12				Epithelial(150;0.203)		GTTCATGGAAAGCTTGATCTA	0.348													18	64					0	0	0.557998	0	0	C	14303174	A	C	14303174	2	2	75	1	0	0	0	0	0	0	0	1	13729	59	3	5		5	RRAS2	11	14303174	Silent	SNP	A	TCGA-DU-5854-01A-11D-1705-08		14303174	120703342	34	3378											
OR4C6	219432	broad.mit.edu	37	11	55433000	55433000	+	Missense_Mutation	SNP	C	C	T	rs146965889	byFrequency	TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chr11:55433000C>T	ENST00000314259.3	+	1	387	c.358C>T	c.(358-360)Cgc>Tgc	p.R120C		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	120					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						GGCCTATGACCGCTACGTGGC	0.552													15	58					0	0	0.457914	0	0	T	55433000	C	T	55433000	3	4	75	1	0	0	0	0	1	0	0	0	11100	652	23	1	360	1	OR4C6	11	55433000	Missense_Mutation	SNP	C	TCGA-DU-5854-01A-11D-1705-08	41129826	55433000	79573516	35	3379											
DPAGT1	1798	broad.mit.edu	37	11	118967807	118967807	+	Silent	SNP	G	G	A			TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chr11:118967807G>A	ENST00000432443.2	-	7	1307	c.885C>T	c.(883-885)tgC>tgT	p.C295C	DPAGT1_ENST00000354202.4_Intron|DPAGT1_ENST00000409993.2_Intron			Q9H3H5	GPT_HUMAN	dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase)	385					dolichol biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|protein oligomerization	integral to endoplasmic reticulum membrane|microsome	phospho-N-acetylmuramoyl-pentapeptide-transferase activity|transferase activity, transferring glycosyl groups|UDP-N-acetylglucosamine-dolichyl-phosphate N-acetylglucosaminephosphotransferase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	17	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.55e-05)		TAAGAATCACGCAGAAAGGGA	0.502													3	62					0	0	0.115264	0	0	A	118967807	G	A	118967807	2	1	75	1	0	0	0	0	0	0	0	1	4737	1102	38	1		1	DPAGT1	11	118967807	Silent	SNP	G	TCGA-DU-5854-01A-11D-1705-08	63534807	118967807	16038709	36	3380											
A2ML1	144568	broad.mit.edu	37	12	9004550	9004550	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chr12:9004550G>A	ENST00000299698.7	+	19	2585	c.2405G>A	c.(2404-2406)cGt>cAt	p.R802H	A2ML1_ENST00000539547.1_Missense_Mutation_p.R311H	NM_001282424.1|NM_144670.4	NP_001269353.1|NP_653271	B3KVV6	B3KVV6_HUMAN	alpha-2-macroglobulin-like 1	646						extracellular space	endopeptidase inhibitor activity			NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						TCAGTAGTCCGTGGGGAATCC	0.502													28	93					0	0	0.769981	0	0	A	9004550	G	A	9004550	3	1	75	1	0	0	0	0	1	0	0	0	5	1145	40	1	2479	1	A2ML1	12	9004550	Missense_Mutation	SNP	G	TCGA-DU-5854-01A-11D-1705-08		9004550	124847345	37	3381											
C12orf39	80763	broad.mit.edu	37	12	21684077	21684077	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chr12:21684077delA	ENST00000256969.2	+	6	465	c.299delA	c.(298-300)gaafs	p.E100fs	C12orf39_ENST00000543800.1_3'UTR	NM_030572.2	NP_085049.1	Q9BT56	SPXN_HUMAN	chromosome 12 open reading frame 39	100						extracellular region|nucleus|transport vesicle				endometrium(3)|large_intestine(1)|lung(2)|urinary_tract(1)	7						ACAGATGAAGAAAAAAACTTT	0.284													7	14	---	---	---	---						-	21684077	A	-	21684077	7	5	75	1	0	1	0	1	0	0	0	0	1690	246	9	0	321	0	C12orf39	12	21684077	Frame_Shift_Del	DEL	A	TCGA-DU-5854-01A-11D-1705-08	12679527	21684077	112167818	38	3382											
KRT3	3850	broad.mit.edu	37	12	53187985	53187985	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chr12:53187985C>T	ENST00000417996.2	-	2	850	c.776G>A	c.(775-777)cGg>cAg	p.R259Q	KRT3_ENST00000309505.3_Missense_Mutation_p.R259Q	NM_057088.2	NP_476429.2	P12035	K2C3_HUMAN	keratin 3	259	Coil 1B.|Rod.				epithelial cell differentiation|intermediate filament cytoskeleton organization	keratin filament	structural molecule activity			NS(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|skin(1)	23						CAGGTAGCTCCGCAGGTAGTT	0.532													29	111					0	0	0.740014	0	0	T	53187985	C	T	53187985	3	4	75	1	0	0	0	0	1	0	0	0	8509	652	23	1	1142	1	KRT3	12	53187985	Missense_Mutation	SNP	C	TCGA-DU-5854-01A-11D-1705-08	31503908	53187985	80663910	39	3383											
MORN3	283385	broad.mit.edu	37	12	122091088	122091088	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chr12:122091088C>T	ENST00000355329.3	-	4	711	c.541G>A	c.(541-543)Ggc>Agc	p.G181S		NM_173855.4	NP_776254.3	Q6PF18	MORN3_HUMAN	MORN repeat containing 3	181										breast(2)|large_intestine(1)|lung(4)|skin(1)|stomach(1)	9	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000409)|Epithelial(86;0.00145)		AACAGCTGGCCGTGGTCCAGA	0.607													8	33					0	0	0.307466	0	0	T	122091088	C	T	122091088	3	4	75	1	0	0	0	0	1	0	0	0	9758	652	23	1	189	1	MORN3	12	122091088	Missense_Mutation	SNP	C	TCGA-DU-5854-01A-11D-1705-08	68903103	122091088	11760807	40	3384											
TMEM132B	114795	broad.mit.edu	37	12	126139203	126139203	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chr12:126139203G>A	ENST00000299308.3	+	9	3192	c.3184G>A	c.(3184-3186)Ggg>Agg	p.G1062R	TMEM132B_ENST00000535886.1_Missense_Mutation_p.G574R	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	1062						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		TATGGGGCTGGGGGATTCACA	0.463													16	54					0	0	0.500413	0	0	A	126139203	G	A	126139203	3	1	75	1	0	0	0	0	1	0	0	0	16106	1232	43	2	3218	2	TMEM132B	12	126139203	Missense_Mutation	SNP	G	TCGA-DU-5854-01A-11D-1705-08	4048115	126139203	7712692	41	3385											
LIG4	3981	broad.mit.edu	37	13	108863573	108863573	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chr13:108863573G>C	ENST00000356922.4	-	2	316	c.44C>G	c.(43-45)cCt>cGt	p.P15R	LIG4_ENST00000405925.1_Missense_Mutation_p.P15R|LIG4_ENST00000442234.1_Missense_Mutation_p.P15R	NM_002312.3|NM_206937.1	NP_002303.2|NP_996820.1	P49917	DNLI4_HUMAN	ligase IV, DNA, ATP-dependent	15					cell cycle|cell division|cell proliferation|central nervous system development|chromosome organization|DNA ligation involved in DNA recombination|DNA ligation involved in DNA repair|DNA replication|double-strand break repair via nonhomologous end joining|in utero embryonic development|initiation of viral infection|isotype switching|negative regulation of neuron apoptosis|neuron apoptosis|nucleotide-excision repair, DNA gap filling|positive regulation of fibroblast proliferation|positive regulation of neurogenesis|pro-B cell differentiation|provirus integration|response to gamma radiation|response to X-ray|single strand break repair|somatic stem cell maintenance|T cell differentiation in thymus|T cell receptor V(D)J recombination	condensed chromosome|cytoplasm|DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|focal adhesion|nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding|protein C-terminus binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)					ATCTGCAAAAGGAACGTGAGA	0.358								Non-homologous end-joining					12	48					0	0	0.411799	0	0	C	108863573	G	C	108863573	3	2	75	1	0	0	0	0	1	0	0	0	8823	1000	35	4	2695	4	LIG4	13	108863573	Missense_Mutation	SNP	G	TCGA-DU-5854-01A-11D-1705-08		108863573	6306305	42	3386											
GABRB3	2562	broad.mit.edu	37	15	27184436	27184436	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chr15:27184436G>A	ENST00000541819.2	-	1	250	c.148C>T	c.(148-150)Cga>Tga	p.R50*	GABRA5_ENST00000335625.5_Intron|GABRA5_ENST00000400081.3_Intron|GABRA5_ENST00000355395.5_Intron			P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3	0					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	AGGTCTCCTCGTGCCTCCCAC	0.582													18	41					0	0	0.557998	0	0	A	27184436	G	A	27184436	4	1	75	1	0	0	0	0	0	1	0	0	6203	1160	40	1		1	GABRB3	15	27184436	Nonsense_Mutation	SNP	G	TCGA-DU-5854-01A-11D-1705-08		27184436	75346956	43	3387											
TRIM69	140691	broad.mit.edu	37	15	45050860	45050860	+	Silent	SNP	T	T	C			TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chr15:45050860T>C	ENST00000558173.1	+	2	4754	c.9T>C	c.(7-9)ttT>ttC	p.F3F	TRIM69_ENST00000338264.4_Silent_p.F48F|TRIM69_ENST00000559390.1_Silent_p.F207F|TRIM69_ENST00000560442.1_Silent_p.F3F|TRIM69_ENST00000329464.4_Silent_p.F207F|TRIM69_ENST00000558329.1_Silent_p.F3F|TRIM69_ENST00000561043.1_Intron			Q86WT6	TRI69_HUMAN	tripartite motif containing 69	207	Necessary for nuclear localization (By similarity).				apoptosis	nuclear speck	zinc ion binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(9)|skin(1)	20		all_cancers(109;2.47e-13)|all_epithelial(112;2.84e-11)|Lung NSC(122;2.23e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)		all cancers(107;5.5e-19)|GBM - Glioblastoma multiforme(94;1.07e-06)|Colorectal(105;0.138)|COAD - Colon adenocarcinoma(120;0.141)		CCATGGAGTTTCTAAAGCTGC	0.463													14	37					0	0	0.479597	0	0	C	45050860	T	C	45050860	2	2	75	1	0	0	0	0	0	0	0	1	16603	1780	62	3		3	TRIM69	15	45050860	Silent	SNP	T	TCGA-DU-5854-01A-11D-1705-08	17866424	45050860	57480532	44	3388											
NCOR1	9611	broad.mit.edu	37	17	16029417	16029417	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chr17:16029417T>C	ENST00000268712.3	-	15	1870	c.1613A>G	c.(1612-1614)aAa>aGa	p.K538R	NCOR1_ENST00000395848.1_Missense_Mutation_p.K429R|NCOR1_ENST00000395851.1_Missense_Mutation_p.K538R	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	538					cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		tttttcatctttttcctcttc	0.264													2	7					0	0	0.115264	0	0	C	16029417	T	C	16029417	3	2	75	1	0	0	0	0	1	0	0	0	10282	1841	64	3	5837	3	NCOR1	17	16029417	Missense_Mutation	SNP	T	TCGA-DU-5854-01A-11D-1705-08		16029417	65165793	45	3389											
MUC16	94025	broad.mit.edu	37	19	9046352	9046352	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chr19:9046352G>T	ENST00000397910.4	-	5	35482	c.35279C>A	c.(35278-35280)aCt>aAt	p.T11760N		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11762	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ATGAGTCAAAGTTGGAACAGT	0.478													14	69					1.5842e-08	1.77622e-08	0.435327	1	0	T	9046352	G	T	9046352	3	4	75	1	0	0	0	0	1	0	0	0	10021	1029	36	4	8564	4	MUC16	19	9046352	Missense_Mutation	SNP	G	TCGA-DU-5854-01A-11D-1705-08		9046352	50082631	46	3390											
MUC16	94025	broad.mit.edu	37	19	9090675	9090675	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chr19:9090675G>T	ENST00000397910.4	-	1	1343	c.1140C>A	c.(1138-1140)caC>caA	p.H380Q		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	380	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TCTTGGCTATGTGGGTGCTGG	0.507													13	42					2.27111e-07	2.50839e-07	0.411799	1	0	T	9090675	G	T	9090675	3	4	75	1	0	0	0	0	1	0	0	0	10021	1368	48	5	42719	5	MUC16	19	9090675	Missense_Mutation	SNP	G	TCGA-DU-5854-01A-11D-1705-08	44323	9090675	50038308	47	3391											
SNPH	9751	broad.mit.edu	37	20	1286246	1286246	+	Missense_Mutation	SNP	G	G	T	rs140720029		TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chr20:1286246G>T	ENST00000381867.1	+	7	1807	c.1165G>T	c.(1165-1167)Ggg>Tgg	p.G389W	SNPH_ENST00000381873.3_Missense_Mutation_p.G345W			O15079	SNPH_HUMAN	syntaphilin	345					synaptic vesicle docking involved in exocytosis	cell junction|integral to membrane|synapse|synaptosome	syntaxin-1 binding			endometrium(2)|large_intestine(4)|lung(10)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						CCCTGAGTCAGGGGACAGGTG	0.622													4	91					0.00909568	0.00948	0.150653	1	0	T	1286246	G	T	1286246	3	4	75	1	0	0	0	0	1	0	0	0	14904	1000	35	4	1047	4	SNPH	20	1286246	Missense_Mutation	SNP	G	TCGA-DU-5854-01A-11D-1705-08		1286246	61739274	48	3392											
BAGE2	85319	broad.mit.edu	37	21	11038841	11038841	+	RNA	SNP	G	G	C			TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chr21:11038841G>C	ENST00000470054.1	-	0	1362									B melanoma antigen family, member 2															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)		GTTTCCAGCAGAGGAACTAAG	0.453													32	195					0	0	0.760397	0	0	C	11038841	G	C	11038841	1	2	75	0	1	0	0	0	0	0	0	0	1290	957	33	4		4	BAGE2	21	11038841	RNA	SNP	G	TCGA-DU-5854-01A-11D-1705-08		11038841	37091054	49	3393											
RIPK4	54101	broad.mit.edu	37	21	43161994	43161994	+	Silent	SNP	G	G	A			TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chr21:43161994G>A	ENST00000352483.2	-	9	1567	c.1503C>T	c.(1501-1503)tgC>tgT	p.C501C	RIPK4_ENST00000544709.1_Silent_p.C390C|RIPK4_ENST00000332512.3_Silent_p.C453C|RIPK4_ENST00000542057.1_Silent_p.C390C			Q96T11	Q96T11_HUMAN	receptor-interacting serine-threonine kinase 4	453						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity	p.C453C(1)		NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						GCCACTTGGCGCACTCCTCTT	0.657													31	69					0	0	0.779181	0	0	A	43161994	G	A	43161994	2	1	75	1	0	0	0	0	0	0	0	1	13435	1079	38	1		1	RIPK4	21	43161994	Silent	SNP	G	TCGA-DU-5854-01A-11D-1705-08	32123153	43161994	4967901	50	3394											
MXRA5	25878	broad.mit.edu	37	X	3228242	3228242	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chrX:3228242G>A	ENST00000217939.6	-	7	8156	c.8002C>T	c.(8002-8004)Cgt>Tgt	p.R2668C		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2668	Ig-like C2-type 11.					extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CAGGAGAAACGTCCCTGCCCA	0.592													29	56					0	0	0.750413	0	0	A	3228242	G	A	3228242	3	1	75	1	0	0	0	0	1	0	0	0	10051	1145	40	1	488	1	MXRA5	23	3228242	Missense_Mutation	SNP	G	TCGA-DU-5854-01A-11D-1705-08		3228242	152042318	51	3395											
PDHA1	5160	broad.mit.edu	37	X	19369427	19369427	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chrX:19369427G>A	ENST00000379806.5	+	5	579	c.434G>A	c.(433-435)gGc>gAc	p.G145D	PDHA1_ENST00000540249.1_Missense_Mutation_p.G107D|PDHA1_ENST00000545074.1_Missense_Mutation_p.G114D|PDHA1_ENST00000422285.2_Missense_Mutation_p.G107D|PDHA1_ENST00000379805.3_Missense_Mutation_p.G107D	NM_001173454.1	NP_001166925.1	P08559	ODPA_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 1	107					glycolysis|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	protein binding|pyruvate dehydrogenase (acetyl-transferring) activity			endometrium(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)	18	Hepatocellular(33;0.183)				NADH(DB00157)	CTGGAGGCCGGCATCAACCCC	0.507													4	114					0	0	0.184627	0	0	A	19369427	G	A	19369427	3	1	75	1	0	0	0	0	1	0	0	0	11711	1203	42	2	473	2	PDHA1	23	19369427	Missense_Mutation	SNP	G	TCGA-DU-5854-01A-11D-1705-08	16141185	19369427	135901133	52	3396											
HDX	139324	broad.mit.edu	37	X	83724443	83724443	+	Silent	SNP	A	A	C			TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chrX:83724443A>C	ENST00000297977.5	-	3	399	c.288T>G	c.(286-288)tcT>tcG	p.S96S	HDX_ENST00000373177.2_Silent_p.S96S|HDX_ENST00000506585.2_Silent_p.S38S	NM_001177479.1|NM_144657.4	NP_001170950.1|NP_653258.2	Q7Z353	HDX_HUMAN	highly divergent homeobox	96						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(12)|liver(1)|lung(19)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						ATGTCCAAGAAGACTGCTGGC	0.428													38	84					0	0	0.812448	0	0	C	83724443	A	C	83724443	2	2	75	1	0	0	0	0	0	0	0	1	7067	59	3	5		5	HDX	23	83724443	Silent	SNP	A	TCGA-DU-5854-01A-11D-1705-08	64355016	83724443	71546117	53	3397											
CXorf57	55086	broad.mit.edu	37	X	105855370	105855370	+	Silent	SNP	G	G	A			TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chrX:105855370G>A	ENST00000372548.4	+	1	169	c.60G>A	c.(58-60)ccG>ccA	p.P20P	CXorf57_ENST00000372544.2_Silent_p.P20P	NM_018015.5	NP_060485.4	Q6NSI4	CX057_HUMAN	chromosome X open reading frame 57	20								p.P20P(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	31						TAGATTGGCCGAACCCTGAGA	0.572													27	85					0	0	0.681144	0	0	A	105855370	G	A	105855370	2	1	75	1	0	0	0	0	0	0	0	1	4136	1045	37	1		1	CXorf57	23	105855370	Silent	SNP	G	TCGA-DU-5854-01A-11D-1705-08	22130927	105855370	49415190	54	3398											
SAGE1	55511	broad.mit.edu	37	X	134994995	134994995	+	Missense_Mutation	SNP	C	C	T	rs139129211	by1000genomes	TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chrX:134994995C>T	ENST00000535938.1	+	20	2821	c.2654C>T	c.(2653-2655)gCg>gTg	p.A885V	SAGE1_ENST00000537770.1_Missense_Mutation_p.A509V|SAGE1_ENST00000370709.3_Missense_Mutation_p.A885V|SAGE1_ENST00000324447.3_Missense_Mutation_p.A885V	NM_018666.2	NP_061136.2	Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	885										breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55	Acute lymphoblastic leukemia(192;0.000127)					CTCGAGAAGGCGCTTAAAGAA	0.368													7	31					0	0	0.248553	0	0	T	134994995	C	T	134994995	3	4	75	1	0	0	0	0	1	0	0	0	13861	768	27	1	2728	1	SAGE1	23	134994995	Missense_Mutation	SNP	C	TCGA-DU-5854-01A-11D-1705-08	29139625	134994995	20275565	55	3399											
PNMA5	114824	broad.mit.edu	37	X	152159963	152159963	+	Silent	SNP	G	G	A			TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chrX:152159963G>A	ENST00000439251.1	-	2	618	c.180C>T	c.(178-180)gaC>gaT	p.D60D	PNMA5_ENST00000361887.5_Silent_p.D60D|PNMA5_ENST00000535214.1_Silent_p.D60D|PNMA5_ENST00000452693.1_Silent_p.D60D	NM_001103150.1	NP_001096620.1	Q96PV4	PNMA5_HUMAN	paraneoplastic Ma antigen family member 5	60					apoptosis					breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	Acute lymphoblastic leukemia(192;6.56e-05)					ccttggcattgtcttccctcc	0.522													44	106					0	0	0.840704	0	0	A	152159963	G	A	152159963	2	1	75	1	0	0	0	0	0	0	0	1	12204	1368	48	2		2	PNMA5	23	152159963	Silent	SNP	G	TCGA-DU-5854-01A-11D-1705-08	17164968	152159963	3110597	56	3400											
MTCP1	4515	broad.mit.edu	37	X	154293907	154293907	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chrX:154293907T>C	ENST00000369476.3	-	3	842	c.263A>G	c.(262-264)cAg>cGg	p.Q88R	MTCP1_ENST00000482244.1_5'UTR|CMC4_ENST00000369484.3_Intron|MTCP1_ENST00000362018.2_Missense_Mutation_p.Q88R	NM_001018025.3	NP_001018025.1	P56278	MTCP1_HUMAN	mature T-cell proliferation 1	88					cell proliferation					large_intestine(1)|lung(2)|prostate(1)|urinary_tract(1)	5	all_cancers(53;3.51e-17)|all_epithelial(53;5.13e-11)|all_lung(58;3.84e-07)|Lung NSC(58;1.2e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					TAAATGATGCTGTATCTGCCA	0.453			T	TRA@	T cell prolymphocytic leukemia								30	74					0	0	0.760397	0	0	C	154293907	T	C	154293907	3	2	75	1	0	0	0	0	1	0	0	0	9963	1580	55	3	68	3	MTCP1	23	154293907	Missense_Mutation	SNP	T	TCGA-DU-5854-01A-11D-1705-08	2133944	154293907	976653	57	3401											
SCMH1	22955	broad.mit.edu	37	1	41579187	41579187	+	Silent	SNP	C	C	T			TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chr1:41579187C>T	ENST00000402904.2	-	8	851	c.483G>A	c.(481-483)tcG>tcA	p.S161S	SCMH1_ENST00000456518.2_Intron|SCMH1_ENST00000372595.1_Silent_p.S100S|SCMH1_ENST00000361705.3_Silent_p.S114S|SCMH1_ENST00000337495.5_Silent_p.S171S|SCMH1_ENST00000397174.2_Silent_p.S141S|SCMH1_ENST00000372597.1_Silent_p.S114S|SCMH1_ENST00000326197.7_Silent_p.S161S|SCMH1_ENST00000361191.5_Silent_p.S100S|SCMH1_ENST00000372596.1_Silent_p.S100S|SCMH1_ENST00000397171.2_Silent_p.S100S	NM_001031694.2	NP_001026864.1	Q96GD3	SCMH1_HUMAN	sex comb on midleg homolog 1 (Drosophila)	161					anatomical structure morphogenesis|gene silencing|multicellular organismal development|negative regulation of transcription, DNA-dependent		DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(2)|pancreas(2)|upper_aerodigestive_tract(1)	15	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)|Breast(333;0.162)	Myeloproliferative disorder(586;0.0393)				TGTGGGAAGGCGATGGTGGCT	0.443													13	20					0	0	0.435327	0	0	T	41579187	C	T	41579187	2	4	76	1	0	0	0	0	0	0	0	1	13962	755	27	1		1	SCMH1	1	41579187	Silent	SNP	C	TCGA-DU-5855-01A-11D-1705-08		41579187	207671434	1	3402											
PTPRF	5792	broad.mit.edu	37	1	44079328	44079328	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chr1:44079328C>T	ENST00000359947.4	+	23	4353	c.4013C>T	c.(4012-4014)gCg>gTg	p.A1338V	PTPRF_ENST00000438120.1_Missense_Mutation_p.A1329V|PTPRF_ENST00000422171.2_Missense_Mutation_p.A697V|PTPRF_ENST00000372413.3_Missense_Mutation_p.A1329V|PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000372414.3_Missense_Mutation_p.A1338V	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	1338					transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				ACCGACCTGGCGGACAACATC	0.597													19	42					0	0	0.539581	0	0	T	44079328	C	T	44079328	3	4	76	1	0	0	0	0	1	0	0	0	12853	768	27	1	4095	1	PTPRF	1	44079328	Missense_Mutation	SNP	C	TCGA-DU-5855-01A-11D-1705-08	2500141	44079328	205171293	2	3403											
HRNR	388697	broad.mit.edu	37	1	152188371	152188371	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chr1:152188371G>T	ENST00000368801.2	-	3	5809	c.5734C>A	c.(5734-5736)Caa>Aaa	p.Q1912K	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	1912					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GATCCGTGTTGTTCACCCCTA	0.557													119	1647					7.65386e-43	8.59878e-43	0.870114	1	0	T	152188371	G	T	152188371	3	4	76	1	0	0	0	0	1	0	0	0	7400	1386	48	5	2822	5	HRNR	1	152188371	Missense_Mutation	SNP	G	TCGA-DU-5855-01A-11D-1705-08	108109043	152188371	97062250	3	3404											
CFHR5	81494	broad.mit.edu	37	1	196973949	196973949	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chr1:196973949T>C	ENST00000367414.5	+	9	1617	c.1561T>C	c.(1561-1563)Tgg>Cgg	p.W521R	CFHR5_ENST00000256785.4_Missense_Mutation_p.W497R	NM_030787.3	NP_110414.1	Q9BXR6	FHR5_HUMAN	complement factor H-related 5	497	Sushi 9.		L -> I (in dbSNP:rs35957013).		complement activation, alternative pathway	extracellular region				NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						AAATAAACAGTGGTCAGAACC	0.378													24	51					0	0	0.667858	0	0	C	196973949	T	C	196973949	3	2	76	1	0	0	0	0	1	0	0	0	3310	1696	59	3	1523	3	CFHR5	1	196973949	Missense_Mutation	SNP	T	TCGA-DU-5855-01A-11D-1705-08	44785578	196973949	52276672	4	3405											
TMEM9	252839	broad.mit.edu	37	1	201112999	201112999	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chr1:201112999G>C	ENST00000367330.1	-	4	864	c.348C>G	c.(346-348)atC>atG	p.I116M	TMEM9_ENST00000485839.2_Missense_Mutation_p.I116M|TMEM9_ENST00000472411.1_5'UTR|TMEM9_ENST00000367334.5_Missense_Mutation_p.I116M|TMEM9_ENST00000367332.1_Missense_Mutation_p.I119M|TMEM9_ENST00000367333.2_Missense_Mutation_p.I116M			Q9P0T7	TMEM9_HUMAN	transmembrane protein 9	116					transport	integral to membrane|late endosome membrane|lysosomal membrane				liver(1)|lung(1)|stomach(1)	3		Breast(1374;0.000301)				CCGGCTTTCGGATCAGAGGGT	0.572													4	42					0	0	0.184627	0	0	C	201112999	G	C	201112999	3	2	76	1	0	0	0	0	1	0	0	0	16277	1164	41	5	211	5	TMEM9	1	201112999	Missense_Mutation	SNP	G	TCGA-DU-5855-01A-11D-1705-08	4139050	201112999	48137622	5	3406											
MDM4	4194	broad.mit.edu	37	1	204518349	204518349	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chr1:204518349A>C	ENST00000367182.3	+	11	1174	c.1012A>C	c.(1012-1014)Acc>Ccc	p.T338P	MDM4_ENST00000391947.2_3'UTR|MDM4_ENST00000367183.3_Intron|MDM4_ENST00000463049.1_3'UTR|MDM4_ENST00000507825.2_Intron|MDM4_ENST00000454264.2_Missense_Mutation_p.T288P	NM_001204171.1|NM_001278516.1|NM_001278517.1|NM_001278518.1|NM_001278519.1|NM_002393.4	NP_001191100.1|NP_001265445.1|NP_001265446.1|NP_001265447.1|NP_001265448.1|NP_002384.2	O15151	MDM4_HUMAN	Mdm4 p53 binding protein homolog (mouse)	338					apoptosis|cell proliferation|cellular response to hypoxia|G0 to G1 transition|negative regulation of apoptosis|negative regulation of cell cycle arrest|negative regulation of cell proliferation|negative regulation of protein catabolic process|negative regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization	nucleus	enzyme binding|zinc ion binding			central_nervous_system(2)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	16	all_cancers(21;0.00146)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.112)|all_epithelial(62;0.118)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;3.15e-47)|all cancers(3;3.56e-32)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|Epithelial(59;0.143)|BRCA - Breast invasive adenocarcinoma(75;0.143)			TTCAAAGTTAACCCATTCTCT	0.428			A		"GBM, bladder, retinoblastoma"								15	116					0	0	0.539581	0	0	C	204518349	A	C	204518349	3	2	76	1	0	0	0	0	1	0	0	0	9464	43	2	5	1050	5	MDM4	1	204518349	Missense_Mutation	SNP	A	TCGA-DU-5855-01A-11D-1705-08	3405350	204518349	44732272	6	3407											
HHIPL2	79802	broad.mit.edu	37	1	222717481	222717481	+	Silent	SNP	C	C	T			TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chr1:222717481C>T	ENST00000343410.6	-	2	430	c.372G>A	c.(370-372)acG>acA	p.T124T		NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN	HHIP-like 2	124					carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding			NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		TCCGGAGAGGCGTCTGGGTGT	0.597													34	140					0	0	0.804634	0	0	T	222717481	C	T	222717481	2	4	76	1	0	0	0	0	0	0	0	1	7135	755	27	1		1	HHIPL2	1	222717481	Silent	SNP	C	TCGA-DU-5855-01A-11D-1705-08	18199132	222717481	26533140	7	3408											
IFIH1	64135	broad.mit.edu	37	2	163134056	163134056	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chr2:163134056A>C	ENST00000263642.2	-	10	2308	c.1913T>G	c.(1912-1914)tTt>tGt	p.F638C		NM_022168.3	NP_071451.2	Q9BYX4	IFIH1_HUMAN	interferon induced with helicase C domain 1	638					detection of virus|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|regulation of apoptosis	cytosol|nucleus	ATP binding|DNA binding|double-stranded RNA binding|helicase activity|protein binding|ribonucleoprotein binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	39						TATGACTGCAAACTTCTTATC	0.353													17	18					0	0	0.520397	0	0	C	163134056	A	C	163134056	3	2	76	1	0	0	0	0	1	0	0	0	7564	14	1	5	1192	5	IFIH1	2	163134056	Missense_Mutation	SNP	A	TCGA-DU-5855-01A-11D-1705-08		163134056	80065317	8	3409											
TTN	7273	broad.mit.edu	37	2	179470362	179470362	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chr2:179470362C>T	ENST00000589042.1	-	279	53884	c.53660G>A	c.(53659-53661)cGc>cAc	p.R17887H	TTN_ENST00000342175.6_Missense_Mutation_p.R9014H|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R8947H|TTN_ENST00000460472.2_Missense_Mutation_p.R8822H|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R16246H|TTN_ENST00000342992.6_Missense_Mutation_p.R15319H|TTN-AS1_ENST00000592630.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	16246	Fibronectin type-III 29.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACCATTACTGCGGGGCTCTTT	0.473													5	87					0	0	0.184627	0	0	T	179470362	C	T	179470362	3	4	76	1	0	0	0	0	1	0	0	0	16797	768	27	1	54369	1	TTN	2	179470362	Missense_Mutation	SNP	C	TCGA-DU-5855-01A-11D-1705-08	16336306	179470362	63729011	9	3410											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								22	47					0	0	0.639603	0	0	T	209113112	C	T	209113112	3	4	76	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-DU-5855-01A-11D-1705-08	29642750	209113112	34086261	10	3411											
FLNB	2317	broad.mit.edu	37	3	58094210	58094210	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chr3:58094210A>G	ENST00000357272.4	+	13	2132	c.1967A>G	c.(1966-1968)gAg>gGg	p.E656G	FLNB_ENST00000358537.3_Missense_Mutation_p.E656G|FLNB_ENST00000295956.4_Missense_Mutation_p.E656G|FLNB_ENST00000348383.5_Missense_Mutation_p.E656G|FLNB_ENST00000493452.1_Missense_Mutation_p.E487G|FLNB_ENST00000429972.2_Missense_Mutation_p.E656G|FLNB_ENST00000419752.2_Missense_Mutation_p.E487G|FLNB_ENST00000490882.1_Missense_Mutation_p.E656G			O75369	FLNB_HUMAN	filamin B, beta	656					actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		CCAGGTTTGGAGAAATCTGGA	0.448													12	19					0	0	0.411799	0	0	G	58094210	A	G	58094210	3	3	76	1	0	0	0	0	1	0	0	0	5967	304	11	3	2017	3	FLNB	3	58094210	Missense_Mutation	SNP	A	TCGA-DU-5855-01A-11D-1705-08		58094210	139928220	11	3412											
LEKR1	389170	broad.mit.edu	37	3	156763496	156763496	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chr3:156763496A>G	ENST00000470811.1	+	14	2459	c.1124A>G	c.(1123-1125)cAg>cGg	p.Q375R	LEKR1_ENST00000356539.4_Missense_Mutation_p.Q679R			D3DNK7	D3DNK7_HUMAN	leucine, glutamate and lysine rich 1	0										breast(1)|large_intestine(5)|lung(3)|ovary(1)|skin(1)	11			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			GAGACTAGACAGAGACTGGCT	0.547													30	53					0	0	0.740014	0	0	G	156763496	A	G	156763496	3	3	76	1	0	0	0	0	1	0	0	0	8756	188	7	3	2082	3	LEKR1	3	156763496	Missense_Mutation	SNP	A	TCGA-DU-5855-01A-11D-1705-08	98669286	156763496	41258934	12	3413											
IGF2BP2	10644	broad.mit.edu	37	3	185393095	185393095	+	Silent	SNP	G	G	A			TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chr3:185393095G>A	ENST00000382199.2	-	9	1155	c.1060C>T	c.(1060-1062)Ctg>Ttg	p.L354L	IGF2BP2_ENST00000494906.1_5'UTR|IGF2BP2_ENST00000457616.2_Silent_p.L360L|IGF2BP2_ENST00000421047.2_Silent_p.L297L|IGF2BP2_ENST00000346192.3_Silent_p.L354L	NM_006548.4	NP_006539.3	Q9Y6M1	IF2B2_HUMAN	insulin-like growth factor 2 mRNA binding protein 2	354					anatomical structure morphogenesis|negative regulation of translation	cytoskeletal part|cytosol|nucleus	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)	20	all_cancers(143;5.84e-11)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)			TTAACAGCCAGCATATCATTT	0.463													15	123					0	0	0.500413	0	0	A	185393095	G	A	185393095	2	1	76	1	0	0	0	0	0	0	0	1	7618	962	34	2		2	IGF2BP2	3	185393095	Silent	SNP	G	TCGA-DU-5855-01A-11D-1705-08	28629599	185393095	12629335	13	3414											
ANK2	287	broad.mit.edu	37	4	114280346	114280346	+	Silent	SNP	C	C	T			TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chr4:114280346C>T	ENST00000357077.4	+	38	10625	c.10572C>T	c.(10570-10572)acC>acT	p.T3524T	ANK2_ENST00000506722.1_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000264366.6_Silent_p.T3491T|ANK2_ENST00000510275.2_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	3491					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		CTGTTGAGACCGAGCACTCAG	0.473													16	66					0	0	0.500413	0	0	T	114280346	C	T	114280346	2	4	76	1	0	0	0	0	0	0	0	1	617	639	23	1		1	ANK2	4	114280346	Silent	SNP	C	TCGA-DU-5855-01A-11D-1705-08		114280346	76873930	14	3415											
SEC24D	9871	broad.mit.edu	37	4	119649799	119649799	+	Silent	SNP	G	G	A			TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chr4:119649799G>A	ENST00000379735.5	-	22	3149	c.2878C>T	c.(2878-2880)Ctg>Ttg	p.L960L	SEC24D_ENST00000505134.1_5'UTR|SEC24D_ENST00000280551.6_Silent_p.L959L|SEC24D_ENST00000429811.2_3'UTR|SEC24D_ENST00000511481.1_Silent_p.L590L	NM_014822.2	NP_055637.2	O94855	SC24D_HUMAN	SEC24 family member D	959					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37						ACTTCAGGCAGCAATGTCTTA	0.303													9	44					0	0	0.335167	0	0	A	119649799	G	A	119649799	2	1	76	1	0	0	0	0	0	0	0	1	14051	962	34	2		2	SEC24D	4	119649799	Silent	SNP	G	TCGA-DU-5855-01A-11D-1705-08	5369453	119649799	71504477	15	3416											
GFM2	84340	broad.mit.edu	37	5	74034187	74034187	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chr5:74034187A>C	ENST00000296805.3	-	14	1733	c.1276T>G	c.(1276-1278)Tca>Gca	p.S426A	GFM2_ENST00000509430.1_Missense_Mutation_p.S426A|GFM2_ENST00000345239.2_Missense_Mutation_p.S379A|GFM2_ENST00000427854.2_Missense_Mutation_p.S426A	NM_032380.3	NP_115756.2	Q969S9	RRF2M_HUMAN	G elongation factor, mitochondrial 2	426					mitochondrial translation|ribosome disassembly	mitochondrion	GTP binding|GTPase activity			breast(2)|endometrium(2)|large_intestine(4)|lung(5)|prostate(1)	14		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Breast(144;0.231)		OV - Ovarian serous cystadenocarcinoma(47;1.86e-56)		GCAGTCAATGAAGGGATTTCT	0.333													74	74					0	0	0.870114	0	0	C	74034187	A	C	74034187	3	2	76	1	0	0	0	0	1	0	0	0	6384	246	9	5	1127	5	GFM2	5	74034187	Missense_Mutation	SNP	A	TCGA-DU-5855-01A-11D-1705-08		74034187	106881073	16	3417											
PCDHAC1	56135	broad.mit.edu	37	5	140308171	140308171	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chr5:140308171T>C	ENST00000253807.2	+	1	1694	c.1694T>C	c.(1693-1695)gTc>gCc	p.V565A	PCDHA10_ENST00000506939.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHAC1_ENST00000409700.3_Missense_Mutation_p.V565A|PCDHA5_ENST00000529619.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA9_ENST00000532602.1_Intron	NM_018898.3	NP_061721.2														NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	65			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AATGGTTCTGTCCCAGTGGAA	0.473													7	97					0	0	0.27861	0	0	C	140308171	T	C	140308171	3	2	76	1	0	0	0	0	1	0	0	0	11579	1667	58	3	1696	3	PCDHAC1	5	140308171	Missense_Mutation	SNP	T	TCGA-DU-5855-01A-11D-1705-08	66273984	140308171	40607089	17	3418											
PCDH12	51294	broad.mit.edu	37	5	141335138	141335138	+	Missense_Mutation	SNP	C	C	T	rs139572685		TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chr5:141335138C>T	ENST00000231484.3	-	1	3489	c.2279G>A	c.(2278-2280)cGc>cAc	p.R760H		NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	protocadherin 12	760					neuron recognition	integral to plasma membrane	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGCTGCTGGCGGTAGGTGGA	0.587													3	41					0	0	0.150653	0	0	T	141335138	C	T	141335138	3	4	76	1	0	0	0	0	1	0	0	0	11557	768	27	1	1291	1	PCDH12	5	141335138	Missense_Mutation	SNP	C	TCGA-DU-5855-01A-11D-1705-08	1026967	141335138	39580122	18	3419											
STK10	6793	broad.mit.edu	37	5	171520604	171520604	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chr5:171520604C>T	ENST00000176763.5	-	9	1709	c.1366G>A	c.(1366-1368)Gcc>Acc	p.A456T		NM_005990.3	NP_005981.3	O94804	STK10_HUMAN	serine/threonine kinase 10	456							ATP binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GTCTCCAGGGCGCTGCTGTTG	0.647													8	46					0	0	0.335167	0	0	T	171520604	C	T	171520604	3	4	76	1	0	0	0	0	1	0	0	0	15342	768	27	1	1584	1	STK10	5	171520604	Missense_Mutation	SNP	C	TCGA-DU-5855-01A-11D-1705-08	30185466	171520604	9394656	19	3420											
CLDN4	1364	broad.mit.edu	37	7	73245693	73245693	+	Silent	SNP	C	C	T			TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chr7:73245693C>T	ENST00000435050.1	+	2	2842	c.162C>T	c.(160-162)tgC>tgT	p.C54C	CLDN4_ENST00000431918.1_Silent_p.C54C|CLDN4_ENST00000340958.2_Silent_p.C54C			O14493	CLD4_HUMAN	claudin 4	54					calcium-independent cell-cell adhesion	integral to plasma membrane|tight junction	identical protein binding|structural molecule activity|transmembrane receptor activity			kidney(2)|lung(4)|urinary_tract(1)	7		Lung NSC(55;0.159)				GGATGAACTGCGTGGTGCAGA	0.642													3	40					0	0	0.150653	0	0	T	73245693	C	T	73245693	2	4	76	1	0	0	0	0	0	0	0	1	3510	776	27	1		1	CLDN4	7	73245693	Silent	SNP	C	TCGA-DU-5855-01A-11D-1705-08		73245693	85892970	20	3421											
PCLO	27445	broad.mit.edu	37	7	82579784	82579784	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chr7:82579784A>G	ENST00000333891.9	-	6	10457	c.10120T>C	c.(10120-10122)Tac>Cac	p.Y3374H	PCLO_ENST00000437081.1_Missense_Mutation_p.Y94H|PCLO_ENST00000423517.2_Missense_Mutation_p.Y3374H	NM_033026.5	NP_149015.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein						cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TGAACGGTGTACCATCCTTGG	0.463													3	46					0	0	0.115264	0	0	G	82579784	A	G	82579784	3	3	76	1	0	0	0	0	1	0	0	0	11630	391	14	3	5405	3	PCLO	7	82579784	Missense_Mutation	SNP	A	TCGA-DU-5855-01A-11D-1705-08	9334091	82579784	76558879	21	3422											
LMTK2	22853	broad.mit.edu	37	7	97823142	97823142	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chr7:97823142G>A	ENST00000297293.5	+	11	3658	c.3365G>A	c.(3364-3366)gGa>gAa	p.G1122E		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	1122					early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					GAGGTCCCGGGAACCTCCCCA	0.607													28	37					0	0	0.706142	0	0	A	97823142	G	A	97823142	3	1	76	1	0	0	0	0	1	0	0	0	8900	1174	41	2	3407	2	LMTK2	7	97823142	Missense_Mutation	SNP	G	TCGA-DU-5855-01A-11D-1705-08	15243358	97823142	61315521	22	3423											
TAF6	6878	broad.mit.edu	37	7	99711904	99711904	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chr7:99711904delC	ENST00000472509.1	-	1	277	c.100delG	c.(100-102)gttfs	p.V34fs	TAF6_ENST00000497233.1_Intron|TAF6_ENST00000452041.1_Intron|TAF6_ENST00000418432.2_Intron|TAF6_ENST00000437822.2_Intron|TAF6_ENST00000453269.2_Intron|TAF6_ENST00000344095.4_Intron			P49848	TAF6_HUMAN	TAF6 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 80kDa	655					negative regulation of cell cycle|negative regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(2)	26	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GGCAGAGGAACGGGGCAGGCA	0.567													18	14	---	---	---	---						-	99711904	C	-	99711904	7	5	76	1	0	1	0	1	0	0	0	0	15587	551	19	0		0	TAF6	7	99711904	Frame_Shift_Del	DEL	C	TCGA-DU-5855-01A-11D-1705-08	1888762	99711904	59426759	23	3424											
COG5	10466	broad.mit.edu	37	7	107204267	107204267	+	Silent	SNP	G	G	C			TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chr7:107204267G>C	ENST00000393603.2	-	1	439	c.168C>G	c.(166-168)gtC>gtG	p.V56V	COG5_ENST00000347053.3_Silent_p.V56V|COG5_ENST00000297135.3_Silent_p.V56V|DUS4L_ENST00000498786.1_Intron	NM_001161520.1	NP_001154992.1	Q9UP83	COG5_HUMAN	component of oligomeric golgi complex 5	56					intra-Golgi vesicle-mediated transport|protein transport	cytosol|Golgi membrane|Golgi transport complex|nucleus	protein binding			breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|skin(4)|stomach(1)	40						GAAGTTCCCGGACTGTAGCTG	0.667													10	20					0	0	0.361761	0	0	C	107204267	G	C	107204267	2	2	76	1	0	0	0	0	0	0	0	1	3684	1161	41	5		5	COG5	7	107204267	Silent	SNP	G	TCGA-DU-5855-01A-11D-1705-08	7492363	107204267	51934396	24	3425											
PLXNA4	91584	broad.mit.edu	37	7	131848964	131848964	+	Silent	SNP	G	G	A			TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chr7:131848964G>A	ENST00000359827.3	-	24	5399	c.4437C>T	c.(4435-4437)ggC>ggT	p.G1479G	PLXNA4_ENST00000321063.4_Silent_p.G1479G			Q9HCM2	PLXA4_HUMAN	plexin A4	1479						integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						AGCGGGCCTCGCCCGTGATGG	0.592													7	29					0	0	0.27861	0	0	A	131848964	G	A	131848964	2	1	76	1	0	0	0	0	0	0	0	1	12170	1074	38	1		1	PLXNA4	7	131848964	Silent	SNP	G	TCGA-DU-5855-01A-11D-1705-08	24644697	131848964	27289699	25	3426											
SHH	6469	broad.mit.edu	37	7	155599004	155599004	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chr7:155599004C>T	ENST00000297261.2	-	2	698	c.548G>A	c.(547-549)tGc>tAc	p.C183Y		NM_000193.2	NP_000184.1	Q15465	SHH_HUMAN	sonic hedgehog	183			C -> F (in HPE3).|C -> R (in HPE3).|C -> Y (in HPE3).		androgen metabolic process|axon guidance|branching involved in ureteric bud morphogenesis|CD4-positive or CD8-positive, alpha-beta T cell lineage commitment|embryonic digit morphogenesis|hindbrain development|intein-mediated protein splicing|lymphoid progenitor cell differentiation|metanephric mesenchymal cell proliferation involved in metanephros development|midbrain development|negative regulation of cell migration|negative regulation of kidney smooth muscle cell differentiation|negative regulation of ureter smooth muscle cell differentiation|negative thymic T cell selection|neural crest cell migration|neuroblast proliferation|patterning of blood vessels|positive regulation of alpha-beta T cell differentiation|positive regulation of immature T cell proliferation in thymus|positive regulation of kidney smooth muscle cell differentiation|positive regulation of mesenchymal cell proliferation involved in ureter development|positive regulation of T cell differentiation in thymus|positive regulation of ureter smooth muscle cell differentiation|positive thymic T cell selection|proteolysis|sclerotome development|stem cell development|thymus development|vasculogenesis|ventral midline development	cell surface|extracellular space|membrane raft|plasma membrane	calcium ion binding|laminin-1 binding|peptidase activity|signal transducer activity|zinc ion binding			central_nervous_system(3)|kidney(1)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00882)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TTTCACCGAGCAGTGGATATG	0.622													23	75					0	0	0.654019	0	0	T	155599004	C	T	155599004	3	4	76	1	0	0	0	0	1	0	0	0	14334	710	25	2	848	2	SHH	7	155599004	Missense_Mutation	SNP	C	TCGA-DU-5855-01A-11D-1705-08	23750040	155599004	3539659	26	3427											
VPS13B	157680	broad.mit.edu	37	8	100396486	100396486	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chr8:100396486A>C	ENST00000395996.1	+	20	2986	c.2875A>C	c.(2875-2877)Atc>Ctc	p.I959L	VPS13B_ENST00000358544.2_Missense_Mutation_p.I959L|VPS13B_ENST00000357162.2_Missense_Mutation_p.I959L			Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	959					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TATTGACCCAATCTTATATAC	0.308													4	86					0	0	0.150653	0	0	C	100396486	A	C	100396486	3	2	76	1	0	0	0	0	1	0	0	0	17250	101	4	4	3072	4	VPS13B	8	100396486	Missense_Mutation	SNP	A	TCGA-DU-5855-01A-11D-1705-08		100396486	45967536	27	3428											
EPPK1	83481	broad.mit.edu	37	8	144942235	144942235	+	Silent	SNP	G	G	A			TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chr8:144942235G>A	ENST00000525985.1	-	2	5258	c.5187C>T	c.(5185-5187)ttC>ttT	p.F1729F				P58107	EPIPL_HUMAN	epiplakin 1	1729						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)			TGTTGGGGTCGAAGAAGCCCT	0.622													33	47					0	0	0.750413	0	0	A	144942235	G	A	144942235	2	1	76	1	0	0	0	0	0	0	0	1	5218	1049	37	1		1	EPPK1	8	144942235	Silent	SNP	G	TCGA-DU-5855-01A-11D-1705-08	44545749	144942235	1421787	28	3429											
SVEP1	79987	broad.mit.edu	37	9	113139596	113139596	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chr9:113139596C>A	ENST00000401783.2	-	45	10795	c.10459G>T	c.(10459-10461)Gct>Tct	p.A3487S	SVEP1_ENST00000374469.1_Missense_Mutation_p.A3464S|SVEP1_ENST00000297826.5_Missense_Mutation_p.A1413S	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	3487					cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						CAGGAACAAGCATTTGGGCGT	0.507													18	37					2.94398e-08	3.18931e-08	0.557998	1	0	A	113139596	C	A	113139596	3	1	76	1	0	0	0	0	1	0	0	0	15476	710	25	5	272	5	SVEP1	9	113139596	Missense_Mutation	SNP	C	TCGA-DU-5855-01A-11D-1705-08		113139596	28073835	29	3430											
ITIH2	3698	broad.mit.edu	37	10	7780699	7780699	+	Silent	SNP	G	G	A			TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chr10:7780699G>A	ENST00000358415.4	+	16	2239	c.2073G>A	c.(2071-2073)acG>acA	p.T691T	ITIH2_ENST00000379587.4_Silent_p.T680T	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN	inter-alpha-trypsin inhibitor heavy chain 2	691					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						TAGAGTCCACGCCACCCCCAC	0.562													12	38					0	0	0.38729	0	0	A	7780699	G	A	7780699	2	1	76	1	0	0	0	0	0	0	0	1	7948	1074	38	1		1	ITIH2	10	7780699	Silent	SNP	G	TCGA-DU-5855-01A-11D-1705-08		7780699	127754048	30	3431											
RAG1	5896	broad.mit.edu	37	11	36596675	36596675	+	Silent	SNP	C	C	T			TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chr11:36596675C>T	ENST00000299440.5	+	2	1933	c.1821C>T	c.(1819-1821)gaC>gaT	p.D607D		NM_000448.2	NP_000439	P15918	RAG1_HUMAN	recombination activating gene 1	607					histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				GAATGGGAGACGTGAGTGAGA	0.468									Familial Hemophagocytic Lymphohistiocytosis				10	29					0	0	0.361761	0	0	T	36596675	C	T	36596675	2	4	76	1	0	0	0	0	0	0	0	1	13055	535	19	1		1	RAG1	11	36596675	Silent	SNP	C	TCGA-DU-5855-01A-11D-1705-08		36596675	98409841	31	3432											
ACTN3	89	broad.mit.edu	37	11	66326855	66326855	+	RNA	SNP	C	C	T			TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chr11:66326855C>T	ENST00000504911.1	-	0	220				ACTN3_ENST00000513398.1_RNA|ACTN3_ENST00000502692.1_RNA																							CCCAGGAGCTCAAGTAggcgg	0.731													4	6					0	0	0.150653	0	0	T	66326855	C	T	66326855	1	4	76	0	1	0	0	0	0	0	0	0	206	813	29	2		2	ACTN3	11	66326855	RNA	SNP	C	TCGA-DU-5855-01A-11D-1705-08	29730180	66326855	68679661	32	3433											
TRAPPC4	51399	broad.mit.edu	37	11	118890880	118890880	+	Missense_Mutation	SNP	A	A	C	rs78676902		TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chr11:118890880A>C	ENST00000533632.1	+	3	735	c.371A>C	c.(370-372)cAg>cCg	p.Q124P	TRAPPC4_ENST00000533058.1_Missense_Mutation_p.Q124P|TRAPPC4_ENST00000528230.1_Missense_Mutation_p.Q81P|TRAPPC4_ENST00000525303.1_Intron|TRAPPC4_ENST00000434101.2_Intron|TRAPPC4_ENST00000359005.4_Missense_Mutation_p.Q124P	NM_016146.4	NP_057230.1	Q9Y296	TPPC4_HUMAN	trafficking protein particle complex 4	124					dendrite development|ER to Golgi vesicle-mediated transport	cis-Golgi network|dendrite|endoplasmic reticulum|Golgi stack|synaptic vesicle	protein binding			NS(1)|endometrium(1)|large_intestine(2)|lung(1)	5	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_neural(223;0.224)|all_hematologic(192;0.243)		BRCA - Breast invasive adenocarcinoma(274;7.58e-05)		ATCGGCTCCCAGCTGTCTCCT	0.498													6	59					0	0	0.335167	0	0	C	118890880	A	C	118890880	3	2	76	1	0	0	0	0	1	0	0	0	16522	188	7	5	381	5	TRAPPC4	11	118890880	Missense_Mutation	SNP	A	TCGA-DU-5855-01A-11D-1705-08	52564025	118890880	16115636	33	3434											
SORL1	6653	broad.mit.edu	37	11	121421301	121421301	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chr11:121421301A>G	ENST00000260197.7	+	16	2317	c.2188A>G	c.(2188-2190)Aag>Gag	p.K730E		NM_003105.5	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	730					cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		CAGCTACCGGAAGATTTCTGG	0.557													7	59					0	0	0.248553	0	0	G	121421301	A	G	121421301	3	3	76	1	0	0	0	0	1	0	0	0	14988	247	9	3	2250	3	SORL1	11	121421301	Missense_Mutation	SNP	A	TCGA-DU-5855-01A-11D-1705-08	2530421	121421301	13585215	34	3435											
WNK1	65125	broad.mit.edu	37	12	989896	989896	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chr12:989896C>T	ENST00000537687.1	+	12	4265	c.3622C>T	c.(3622-3624)Cct>Tct	p.P1208S	WNK1_ENST00000315939.6_Missense_Mutation_p.P948S|WNK1_ENST00000530271.2_Missense_Mutation_p.P1446S|WNK1_ENST00000535572.1_Intron|WNK1_ENST00000340908.4_Missense_Mutation_p.P541S	NM_001184985.1|NM_213655.4	NP_001171914.1|NP_998820.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	948					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			GGGCTTCCCACCTCGACTGCC	0.468													16	466					0	0	0.520397	0	0	T	989896	C	T	989896	3	4	76	1	0	0	0	0	1	0	0	0	17437	507	18	2	4390	2	WNK1	12	989896	Missense_Mutation	SNP	C	TCGA-DU-5855-01A-11D-1705-08		989896	132861999	35	3436											
ETV6	2120	broad.mit.edu	37	12	12022865	12022865	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chr12:12022865C>A	ENST00000396373.4	+	5	1245	c.971C>A	c.(970-972)cCg>cAg	p.P324Q		NM_001987.4	NP_001978.1	P41212	ETV6_HUMAN	ets variant 6	324						cytoplasm|nucleolus	protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		ETV6/JAK2(11)|ETV6/ITPR2(2)|ETV6/NTRK3(238)	breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(15)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(2;1.88e-12)|Acute lymphoblastic leukemia(2;6.91e-39)|all_hematologic(2;2.7e-36)				TCTGTCTCCCCGCCTGAAGAG	0.587			T	"NTRK3, RUNX1, PDGFRB, ABL1, MN1, ABL2, FACL6, CHIC2, ARNT, JAK2, EVI1, CDX2, STL, HLXB9, MDS2, PER1, SYK, TTL, FGFR3, PAX5"	"congenital fibrosarcoma, multiple leukemia and lymphoma,  secretory breast, MDS, ALL"								3	94					0.150653	0.155789	0.150653	1	0	A	12022865	C	A	12022865	3	1	76	1	0	0	0	0	1	0	0	0	5311	652	23	5	989	5	ETV6	12	12022865	Missense_Mutation	SNP	C	TCGA-DU-5855-01A-11D-1705-08	11032969	12022865	121829030	36	3437											
ARID2	196528	broad.mit.edu	37	12	46245951	46245960	+	Frame_Shift_Del	DEL	ATCAAAAGTG	ATCAAAAGTG	-			TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chr12:46245951_46245960delATCAAAAGTG	ENST00000334344.6	+	15	4217_4226	c.4045_4054delATCAAAAGTG	c.(4045-4056)atcaaaagtgatfs	p.IKSD1349fs	ARID2_ENST00000444670.1_Frame_Shift_Del_p.IKSD959fs|ARID2_ENST00000422737.1_Frame_Shift_Del_p.IKSD1200fs|ARID2_ENST00000479608.1_3'UTR	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	1349					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		CATGCAAGATATCAAAAGTGATTTGAGAAA	0.357			"N, S, F"		hepatocellular carcinoma								19	42	---	---	---	---						-	46245960	ATCAAAAGTG	-	46245951	7	5	76	1	0	1	0	1	0	0	0	0	912	449	16	0	4103	0	ARID2	12	46245951	Frame_Shift_Del	DEL	ATCAAAAGTG	TCGA-DU-5855-01A-11D-1705-08	34223086	46245951	87605944	37	3438											
KRT73	319101	broad.mit.edu	37	12	53008406	53008406	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chr12:53008406G>A	ENST00000305748.3	-	4	810	c.776C>T	c.(775-777)gCc>gTc	p.A259V	RP11-641A6.2_ENST00000552364.1_RNA	NM_175068.2	NP_778238.1	Q86Y46	K2C73_HUMAN	keratin 73	259	Coil 1B.|Rod.					keratin filament	structural molecule activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.189)		TCCATCCAGGGCATCCACCTT	0.542													5	42					0	0	0.217242	0	0	A	53008406	G	A	53008406	3	1	76	1	0	0	0	0	1	0	0	0	8529	1203	42	2	870	2	KRT73	12	53008406	Missense_Mutation	SNP	G	TCGA-DU-5855-01A-11D-1705-08	6762455	53008406	80843489	38	3439											
KCNMB4	27345	broad.mit.edu	37	12	70824288	70824288	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chr12:70824288G>A	ENST00000258111.4	+	3	947	c.488G>A	c.(487-489)cGc>cAc	p.R163H		NM_014505.5	NP_055320.4	Q86W47	KCMB4_HUMAN	potassium large conductance calcium-activated channel, subfamily M, beta member 4	163					detection of calcium ion|platelet activation|regulation of action potential in neuron|regulation of neurotransmitter secretion|regulation of vasoconstriction|synaptic transmission	voltage-gated potassium channel complex	calcium-activated potassium channel activity|protein binding			kidney(1)|large_intestine(4)|lung(5)	10	Renal(347;0.236)		Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118)			CTTCTGCATCGCACTCATGAT	0.488													16	128					0	0	0.557998	0	0	A	70824288	G	A	70824288	3	1	76	1	0	0	0	0	1	0	0	0	8121	1087	38	1	498	1	KCNMB4	12	70824288	Missense_Mutation	SNP	G	TCGA-DU-5855-01A-11D-1705-08	17815882	70824288	63027607	39	3440											
FGD6	55785	broad.mit.edu	37	12	95535225	95535225	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chr12:95535225G>A	ENST00000343958.4	-	6	2999	c.2776C>T	c.(2776-2778)Cct>Tct	p.P926S	FGD6_ENST00000549499.1_Missense_Mutation_p.P926S|FGD6_ENST00000546711.1_Missense_Mutation_p.P926S	NM_018351.3	NP_060821.3	Q6ZV73	FGD6_HUMAN	FYVE, RhoGEF and PH domain containing 6	926	DH.				actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						TACAGCTGAGGCAAGTAGTAT	0.448													4	76					0	0	0.184627	0	0	A	95535225	G	A	95535225	3	1	76	1	0	0	0	0	1	0	0	0	5870	1203	42	2	1580	2	FGD6	12	95535225	Missense_Mutation	SNP	G	TCGA-DU-5855-01A-11D-1705-08	24710937	95535225	38316670	40	3441											
SOHLH2	54937	broad.mit.edu	37	13	36776075	36776075	+	Silent	SNP	A	A	G			TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chr13:36776075A>G	ENST00000379881.3	-	2	292	c.204T>C	c.(202-204)gtT>gtC	p.V68V	SOHLH2_ENST00000554962.1_Silent_p.V145V|SOHLH2_ENST00000317764.6_Silent_p.V68V|CCDC169-SOHLH2_ENST00000511166.1_Silent_p.V145V	NM_017826.2	NP_060296.2			spermatogenesis and oogenesis specific basic helix-loop-helix 2											autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;4.63e-08)|Epithelial(112;2.67e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00272)|BRCA - Breast invasive adenocarcinoma(63;0.00685)|GBM - Glioblastoma multiforme(144;0.0273)		CCTTCAAGAGAACCATGTTGA	0.423													21	60					0	0	0.608945	0	0	G	36776075	A	G	36776075	2	3	76	1	0	0	0	0	0	0	0	1	14978	233	9	3		3	SOHLH2	13	36776075	Silent	SNP	A	TCGA-DU-5855-01A-11D-1705-08		36776075	78393803	41	3442											
FNDC3A	22862	broad.mit.edu	37	13	49710555	49710555	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chr13:49710555G>A	ENST00000492622.2	+	6	883	c.578G>A	c.(577-579)cGc>cAc	p.R193H	FNDC3A_ENST00000541916.1_Missense_Mutation_p.R193H|FNDC3A_ENST00000398316.3_Missense_Mutation_p.R137H	NM_001079673.1	NP_001073141.1	Q9Y2H6	FND3A_HUMAN	fibronectin type III domain containing 3A	193						Golgi membrane|integral to membrane				endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1)	41		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)		TTGAAGGATCGCCAAGGAACA	0.388													27	25					0	0	0.667858	0	0	A	49710555	G	A	49710555	3	1	76	1	0	0	0	0	1	0	0	0	6002	1087	38	1	607	1	FNDC3A	13	49710555	Missense_Mutation	SNP	G	TCGA-DU-5855-01A-11D-1705-08	12934480	49710555	65459323	42	3443											
NGDN	25983	broad.mit.edu	37	14	23940135	23940135	+	Silent	SNP	A	A	G			TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chr14:23940135A>G	ENST00000397154.3	+	3	106	c.93A>G	c.(91-93)caA>caG	p.Q31Q	NGDN_ENST00000408901.3_Silent_p.Q31Q			Q8NEJ9	NGDN_HUMAN	neuroguidin, EIF4E binding protein	31					regulation of translation	axon|cytoplasm|dendrite|filopodium|nucleus				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	12	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00654)		TAACTGCACAAGTGAAATCAC	0.368													5	94					0	0	0.248553	0	0	G	23940135	A	G	23940135	2	3	76	1	0	0	0	0	0	0	0	1	10440	69	3	3		3	NGDN	14	23940135	Silent	SNP	A	TCGA-DU-5855-01A-11D-1705-08		23940135	83409405	43	3444											
CTAGE5	4253	broad.mit.edu	37	14	39784908	39784908	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chr14:39784908G>A	ENST00000553728.1	+	20	3196	c.2983G>A	c.(2983-2985)Gca>Aca	p.A995T	CTAGE5_ENST00000341502.5_Missense_Mutation_p.A460T|RP11-407N17.3_ENST00000603904.1_Missense_Mutation_p.A431T|CTAGE5_ENST00000341749.3_Missense_Mutation_p.A448T|CTAGE5_ENST00000396165.4_Missense_Mutation_p.A431T|CTAGE5_ENST00000396158.2_Missense_Mutation_p.A465T|CTAGE5_ENST00000557038.1_Missense_Mutation_p.A380T|CTAGE5_ENST00000553352.1_Missense_Mutation_p.A431T|CTAGE5_ENST00000556148.1_Missense_Mutation_p.A385T|CTAGE5_ENST00000348007.3_Missense_Mutation_p.A460T|CTAGE5_ENST00000280083.3_Missense_Mutation_p.A460T																							TGAGAAAAAAGCACATGATAA	0.254													21	76					0	0	0.667858	0	0	A	39784908	G	A	39784908	3	1	76	1	0	0	0	0	1	0	0	0	4019	971	34	2	1471	2	CTAGE5	14	39784908	Missense_Mutation	SNP	G	TCGA-DU-5855-01A-11D-1705-08	15844773	39784908	67564632	44	3445											
CCDC88C	440193	broad.mit.edu	37	14	91755473	91755473	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chr14:91755473C>T	ENST00000389857.6	-	25	4503	c.4417G>A	c.(4417-4419)Gcc>Acc	p.A1473T		NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	1473					microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway	cytoplasm|insoluble fraction	microtubule binding|PDZ domain binding|protein self-association			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				CCGTTGTGGGCGTCGCGCTCT	0.701													6	18					0	0	0.217242	0	0	T	91755473	C	T	91755473	3	4	76	1	0	0	0	0	1	0	0	0	2885	768	27	1	1693	1	CCDC88C	14	91755473	Missense_Mutation	SNP	C	TCGA-DU-5855-01A-11D-1705-08	51970565	91755473	15594067	45	3446											
EIF2AK4	440275	broad.mit.edu	37	15	40241413	40241413	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chr15:40241413C>T	ENST00000263791.5	+	4	500	c.457C>T	c.(457-459)Cgg>Tgg	p.R153W	EIF2AK4_ENST00000382727.2_Missense_Mutation_p.R153W|EIF2AK4_ENST00000559624.1_Missense_Mutation_p.R153W	NM_001013703.2	NP_001013725.2	Q9P2K8	E2AK4_HUMAN	eukaryotic translation initiation factor 2 alpha kinase 4	153					translation	cytosolic ribosome	aminoacyl-tRNA ligase activity|ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)	40		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)		GCTGGAAAGGCGGGCTCAGGA	0.537													47	73					0	0	0.870114	0	0	T	40241413	C	T	40241413	3	4	76	1	0	0	0	0	1	0	0	0	5025	759	27	1	471	1	EIF2AK4	15	40241413	Missense_Mutation	SNP	C	TCGA-DU-5855-01A-11D-1705-08		40241413	62289979	46	3447											
BUB1B	701	broad.mit.edu	37	15	40509802	40509802	+	Silent	SNP	C	C	T	rs139066741	by1000genomes	TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chr15:40509802C>T	ENST00000287598.6	+	21	2979	c.2784C>T	c.(2782-2784)agC>agT	p.S928S	RP11-133K1.2_ENST00000558658.1_Silent_p.S5S|BUB1B_ENST00000412359.3_Silent_p.S942S|PAK6_ENST00000441369.1_5'UTR|PAK6_ENST00000453867.1_5'UTR	NM_001211.5	NP_001202	O60566	BUB1B_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase B	928	Protein kinase.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell division|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|phosphatidylinositol-mediated signaling|protein localization to kinetochore|spindle organization	anaphase-promoting complex|condensed chromosome outer kinetochore|cytosol|microtubule organizing center|perinuclear region of cytoplasm|spindle midzone	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(1)|stomach(2)|urinary_tract(2)	36		all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556)		TTACCCTCAGCGGCTTTCGGA	0.443			"Mis, N, F, S"			rhabdomyosarcoma			Mosaic Variegated Aneuploidy Syndrome				92	260					0	0	0.870114	0	0	T	40509802	C	T	40509802	2	4	76	1	0	0	0	0	0	0	0	1	1574	767	27	1		1	BUB1B	15	40509802	Silent	SNP	C	TCGA-DU-5855-01A-11D-1705-08	268389	40509802	62021590	47	3448											
NLRP1	22861	broad.mit.edu	37	17	5437261	5437261	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chr17:5437261A>T	ENST00000345221.3	-	9	3562	c.3008T>A	c.(3007-3009)aTg>aAg	p.M1003K	NLRP1_ENST00000577119.1_Missense_Mutation_p.M973K|NLRP1_ENST00000262467.5_Missense_Mutation_p.M1003K|NLRP1_ENST00000571307.1_5'UTR|NLRP1_ENST00000354411.3_Missense_Mutation_p.M973K|NLRP1_ENST00000269280.4_Missense_Mutation_p.M1003K|NLRP1_ENST00000572272.1_Missense_Mutation_p.M1003K	NM_014922.4|NM_033004.3|NM_033007.3	NP_055737.1|NP_127497.1|NP_127500.1	Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	1003					defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	cytoplasm|NALP1 inflammasome complex|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				GCTATTACTCATCTCTCCCGT	0.537													7	325					0	0	0.27861	0	0	T	5437261	A	T	5437261	3	4	76	1	0	0	0	0	1	0	0	0	10518	217	8	4	1524	4	NLRP1	17	5437261	Missense_Mutation	SNP	A	TCGA-DU-5855-01A-11D-1705-08		5437261	75757949	48	3449											
TP53	7157	broad.mit.edu	37	17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	rs121913343		TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chr17:7577121G>A	ENST00000420246.2	-	8	949	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000269305.4_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000359597.4_Missense_Mutation_p.R273C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	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).		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.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			21	3					0	0	0.608945	0	0	A	7577121	G	A	7577121	3	1	76	1	0	0	0	0	1	0	0	0	16442	1087	38	1	469	1	TP53	17	7577121	Missense_Mutation	SNP	G	TCGA-DU-5855-01A-11D-1705-08	2139860	7577121	73618089	49	3450											
PIGS	94005	broad.mit.edu	37	17	26890906	26890906	+	Silent	SNP	G	G	A			TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chr17:26890906G>A	ENST00000308360.7	-	4	681	c.306C>T	c.(304-306)tgC>tgT	p.C102C	PIGS_ENST00000395346.2_Silent_p.C94C|PIGS_ENST00000543734.1_Silent_p.C41C	NM_033198.3	NP_149975.1	Q96S52	PIGS_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class S	102					attachment of GPI anchor to protein|C-terminal protein lipidation	GPI-anchor transamidase complex	protein binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Lung NSC(42;0.00431)					TCTGGAAACGGCATTTGATTT	0.512													4	109					0	0	0.150653	0	0	A	26890906	G	A	26890906	2	1	76	1	0	0	0	0	0	0	0	1	11946	1195	42	2		2	PIGS	17	26890906	Silent	SNP	G	TCGA-DU-5855-01A-11D-1705-08	19313785	26890906	54304304	50	3451											
AATF	26574	broad.mit.edu	37	17	35345964	35345964	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chr17:35345964G>A	ENST00000225402.5	+	6	1345	c.1094G>A	c.(1093-1095)cGc>cAc	p.R365H		NM_012138.3	NP_036270.1	Q9NY61	AATF_HUMAN	apoptosis antagonizing transcription factor	365	RB1 binding.				anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|negative regulation of superoxide anion generation|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to DNA damage stimulus	centrosome|focal adhesion|nucleolus	leucine zipper domain binding|sequence-specific DNA binding transcription factor activity			cervix(2)|endometrium(1)|large_intestine(4)|lung(7)|ovary(2)|skin(2)	18		Breast(25;0.00607)				TACAGGAACCGCACACTTCAG	0.507													4	43					0	0	0.150653	0	0	A	35345964	G	A	35345964	3	1	76	1	0	0	0	0	1	0	0	0	25	1087	38	1	1116	1	AATF	17	35345964	Missense_Mutation	SNP	G	TCGA-DU-5855-01A-11D-1705-08	8455058	35345964	45849246	51	3452											
PSMD3	5709	broad.mit.edu	37	17	38151212	38151212	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chr17:38151212C>G	ENST00000264639.4	+	7	1161	c.987C>G	c.(985-987)caC>caG	p.H329Q	PSMD3_ENST00000541736.1_Missense_Mutation_p.H191Q	NM_002809.3	NP_002800.2	O43242	PSMD3_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 3	329					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome complex	enzyme regulator activity|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Colorectal(19;0.000442)					TCCAGGTGCACAAGCTTCTCA	0.572													19	40					0	0	0.539581	0	0	G	38151212	C	G	38151212	3	3	76	1	0	0	0	0	1	0	0	0	12748	477	17	5	1013	5	PSMD3	17	38151212	Missense_Mutation	SNP	C	TCGA-DU-5855-01A-11D-1705-08	2805248	38151212	43043998	52	3453											
CCR7	1236	broad.mit.edu	37	17	38711759	38711759	+	Silent	SNP	G	G	A			TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chr17:38711759G>A	ENST00000246657.2	-	3	434	c.372C>T	c.(370-372)ttC>ttT	p.F124F	CCR7_ENST00000579344.1_Silent_p.F118F	NM_001838.3	NP_001829.1	P32248	CCR7_HUMAN	chemokine (C-C motif) receptor 7	124					cell maturation|immunological synapse formation|inflammatory response|interleukin-12 secretion|lymphocyte migration into lymph node|positive regulation of dendritic cell antigen processing and presentation|positive regulation of glycoprotein biosynthetic process|positive regulation of humoral immune response|positive regulation of hypersensitivity|positive regulation of interleukin-12 production|positive regulation of neutrophil chemotaxis|regulation of interferon-gamma production|regulation of interleukin-1 beta secretion|T cell costimulation	integral to membrane|intracellular	C-C chemokine receptor activity|chemokine (C-C motif) ligand 19 binding|chemokine (C-C motif) ligand 21 binding			breast(1)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		Breast(137;0.000496)				AGTGGACACCGAAGACCCAGG	0.552													19	20					0	0	0.575678	0	0	A	38711759	G	A	38711759	2	1	76	1	0	0	0	0	0	0	0	1	2968	1049	37	1		1	CCR7	17	38711759	Silent	SNP	G	TCGA-DU-5855-01A-11D-1705-08	560547	38711759	42483451	53	3454											
HDAC5	10014	broad.mit.edu	37	17	42169818	42169818	+	Missense_Mutation	SNP	G	G	A	rs138137922		TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chr17:42169818G>A	ENST00000225983.6	-	8	1176	c.853C>T	c.(853-855)Cgc>Tgc	p.R285C	HDAC5_ENST00000393622.2_Missense_Mutation_p.R284C|HDAC5_ENST00000586802.1_Missense_Mutation_p.R284C|HDAC5_ENST00000336057.5_Missense_Mutation_p.R284C			Q9UQL6	HDAC5_HUMAN	histone deacetylase 5	284					B cell differentiation|cellular response to insulin stimulus|chromatin remodeling|chromatin silencing|inflammatory response|negative regulation of cell migration involved in sprouting angiogenesis|negative regulation of myotube differentiation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|transcription, DNA-dependent	cytoplasm|histone deacetylase complex	histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein kinase C binding|repressing transcription factor binding	p.R284S(1)		central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	21		Breast(137;0.00637)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.118)		CCATCCTTGCGACGCAGGAGG	0.537													9	12					0	0	0.335167	0	0	A	42169818	G	A	42169818	3	1	76	1	0	0	0	0	1	0	0	0	7051	1058	37	1	2598	1	HDAC5	17	42169818	Missense_Mutation	SNP	G	TCGA-DU-5855-01A-11D-1705-08	3458059	42169818	39025392	54	3455											
KLHL14	57565	broad.mit.edu	37	18	30349844	30349844	+	Silent	SNP	C	C	T			TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chr18:30349844C>T	ENST00000359358.4	-	2	1149	c.711G>A	c.(709-711)gcG>gcA	p.A237A	KLHL14_ENST00000358095.4_Silent_p.A237A|AC012123.1_ENST00000426194.1_Silent_p.S24S	NM_020805.1	NP_065856.1	Q9P2G3	KLH14_HUMAN	kelch-like family member 14	237	BACK.					cytosol|endoplasmic reticulum membrane				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2)	31						TCTGGAAGAGCGCCAGCTCCG	0.657													10	28					0	0	0.335167	0	0	T	30349844	C	T	30349844	2	4	76	1	0	0	0	0	0	0	0	1	8413	755	27	1		1	KLHL14	18	30349844	Silent	SNP	C	TCGA-DU-5855-01A-11D-1705-08		30349844	47727404	55	3456											
MBP	4155	broad.mit.edu	37	18	74729068	74729068	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chr18:74729068G>A	ENST00000397860.3	-	4	510	c.296C>T	c.(295-297)gCc>gTc	p.A99V	MBP_ENST00000354542.4_5'UTR|MBP_ENST00000580402.1_Missense_Mutation_p.A99V|MBP_ENST00000397863.1_Missense_Mutation_p.A99V|MBP_ENST00000579129.1_Missense_Mutation_p.A99V|MBP_ENST00000487778.1_5'UTR|MBP_ENST00000355994.2_Missense_Mutation_p.A99V	NM_001025100.1	NP_001020271.1	P02686	MBP_HUMAN	myelin basic protein	99					central nervous system development|immune response|synaptic transmission	plasma membrane	structural constituent of myelin sheath			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	19		Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211)		OV - Ovarian serous cystadenocarcinoma(15;1.79e-06)|BRCA - Breast invasive adenocarcinoma(31;0.113)|READ - Rectum adenocarcinoma(1;0.188)		CCTCCCCGGGGCATCTCGGGA	0.632													3	41					0	0	0.115264	0	0	A	74729068	G	A	74729068	3	1	76	1	0	0	0	0	1	0	0	0	9409	1203	42	2	742	2	MBP	18	74729068	Missense_Mutation	SNP	G	TCGA-DU-5855-01A-11D-1705-08	44379224	74729068	3348180	56	3457											
EEF2	1938	broad.mit.edu	37	19	3977234	3977234	+	Silent	SNP	G	G	A			TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chr19:3977234G>A	ENST00000309311.6	-	14	2450	c.2362C>T	c.(2362-2364)Ctg>Ttg	p.L788L		NM_001961.3	NP_001952.1	P13639	EF2_HUMAN	eukaryotic translation elongation factor 2	788						cytosol|ribonucleoprotein complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity			endometrium(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|GBM - Glioblastoma multiforme(1328;0.0223)|STAD - Stomach adenocarcinoma(1328;0.18)		TTGACGGGCAGATAGGCCTTG	0.617													5	10					0	0	0.184627	0	0	A	3977234	G	A	3977234	2	1	76	1	0	0	0	0	0	0	0	1	4955	933	33	2		2	EEF2	19	3977234	Silent	SNP	G	TCGA-DU-5855-01A-11D-1705-08		3977234	55151749	57	3458											
FCGBP	8857	broad.mit.edu	37	19	40408740	40408740	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chr19:40408740C>T	ENST00000221347.6	-	8	4106	c.4099G>A	c.(4099-4101)Gcc>Acc	p.A1367T		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	1367	VWFD 3.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			AGGTCGTAGGCCACACGCAGG	0.587													16	30					0	0	0.500413	0	0	T	40408740	C	T	40408740	3	4	76	1	0	0	0	0	1	0	0	0	5811	739	26	2	12234	2	FCGBP	19	40408740	Missense_Mutation	SNP	C	TCGA-DU-5855-01A-11D-1705-08	36431506	40408740	18720243	58	3459											
FOSB	2354	broad.mit.edu	37	19	45974181	45974181	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chr19:45974181C>T	ENST00000353609.3	+	2	1013	c.421C>T	c.(421-423)Cgg>Tgg	p.R141W	FOSB_ENST00000590335.1_Missense_Mutation_p.R141W|FOSB_ENST00000417353.2_Missense_Mutation_p.R141W|FOSB_ENST00000585836.1_Missense_Mutation_p.R102W|FOSB_ENST00000443841.2_Intron|FOSB_ENST00000586615.1_Missense_Mutation_p.R92W|FOSB_ENST00000592811.1_Missense_Mutation_p.R92W|FOSB_ENST00000592436.1_Missense_Mutation_p.R141W|FOSB_ENST00000591858.1_Missense_Mutation_p.R102W|ERCC1_ENST00000423698.2_Intron	NM_006732.2	NP_006723.2	P53539	FOSB_HUMAN	FBJ murine osteosarcoma viral oncogene homolog B	141					behavior|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)	13		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00814)|Epithelial(262;0.18)|GBM - Glioblastoma multiforme(486;0.242)		AGCCCGAGCCCGGCCTAGGAG	0.632													14	26					0	0	0.520397	0	0	T	45974181	C	T	45974181	3	4	76	1	0	0	0	0	1	0	0	0	6019	643	23	1	427	1	FOSB	19	45974181	Missense_Mutation	SNP	C	TCGA-DU-5855-01A-11D-1705-08	5565441	45974181	13154802	59	3460											
PRND	23627	broad.mit.edu	37	20	4705632	4705632	+	Silent	SNP	C	C	T			TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chr20:4705632C>T	ENST00000305817.2	+	2	506	c.435C>T	c.(433-435)tgC>tgT	p.C145C		NM_012409.2	NP_036541.2	Q9UKY0	PRND_HUMAN	prion protein 2 (dublet)	145	Globular.				protein homooligomerization	anchored to membrane|plasma membrane				breast(3)|endometrium(2)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	13						TCAAGCATTGCGAGTTTTGGT	0.602													8	33					0	0	0.27861	0	0	T	4705632	C	T	4705632	2	4	76	1	0	0	0	0	0	0	0	1	12595	776	27	1		1	PRND	20	4705632	Silent	SNP	C	TCGA-DU-5855-01A-11D-1705-08		4705632	58319888	60	3461											
PLCG1	5335	broad.mit.edu	37	20	39795459	39795459	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chr20:39795459A>G	ENST00000373272.2	+	19	2666	c.2261A>G	c.(2260-2262)tAt>tGt	p.Y754C	PLCG1_ENST00000244007.3_Missense_Mutation_p.Y754C|PLCG1_ENST00000373271.1_Missense_Mutation_p.Y754C	NM_002660.2	NP_002651.2	P19174	PLCG1_HUMAN	phospholipase C, gamma 1	754	SH2 2.				activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration|T cell receptor signaling pathway	cytosol|lamellipodium|plasma membrane|ruffle	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity			breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2)	46		Myeloproliferative disorder(115;0.00878)				AAGCTGCGCTATCCCATCAAC	0.562													31	50					0	0	0.769981	0	0	G	39795459	A	G	39795459	3	3	76	1	0	0	0	0	1	0	0	0	12083	449	16	3	2335	3	PLCG1	20	39795459	Missense_Mutation	SNP	A	TCGA-DU-5855-01A-11D-1705-08	35089827	39795459	23230061	61	3462											
ASB9	140462	broad.mit.edu	37	X	15272893	15272893	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chrX:15272893G>A	ENST00000546332.1	-	4	731	c.248C>T	c.(247-249)tCt>tTt	p.S83F	ASB9_ENST00000380485.3_Missense_Mutation_p.S83F|ASB9_ENST00000473862.1_5'UTR|ASB9_ENST00000380488.4_Missense_Mutation_p.S83F|ASB9_ENST00000380483.3_Missense_Mutation_p.S83F	NM_001168531.1	NP_001162003.1	Q96DX5	ASB9_HUMAN	ankyrin repeat and SOCS box containing 9	83					intracellular signal transduction					breast(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(10)	15	Hepatocellular(33;0.183)					CTTCACACAAGAGAGATGACC	0.443													25	194					0	0	0.667858	0	0	A	15272893	G	A	15272893	3	1	76	1	0	0	0	0	1	0	0	0	1029	942	33	2	685	2	ASB9	23	15272893	Missense_Mutation	SNP	G	TCGA-DU-5855-01A-11D-1705-08		15272893	139997667	62	3463											
MAGEB10	139422	broad.mit.edu	37	X	27840125	27840125	+	Silent	SNP	C	C	T			TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chrX:27840125C>T	ENST00000356790.2	+	3	947	c.702C>T	c.(700-702)gaC>gaT	p.D234D		NM_182506.3	NP_872312.2	Q96LZ2	MAGBA_HUMAN	melanoma antigen family B, 10	234	MAGE.									NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	26						GGTTATATGACGGAATTGAGC	0.468													8	40					0	0	0.27861	0	0	T	27840125	C	T	27840125	2	4	76	1	0	0	0	0	0	0	0	1	9223	535	19	1		1	MAGEB10	23	27840125	Silent	SNP	C	TCGA-DU-5855-01A-11D-1705-08	12567232	27840125	127430435	63	3464											
ATRX	546	broad.mit.edu	37	X	76764102	76764102	+	Silent	SNP	G	G	T			TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chrX:76764102G>T	ENST00000373344.5	-	35	7420	c.7206C>A	c.(7204-7206)atC>atA	p.I2402I	ATRX_ENST00000395603.3_Silent_p.I2364I|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	2402					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			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)	GAACACAGCTGATTAACTATA	0.403			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						7	183					0.0381472	0.0399011	0.27861	1	0	T	76764102	G	T	76764102	2	4	76	1	0	0	0	0	0	0	0	1	1206	1280	45	5		5	ATRX	23	76764102	Silent	SNP	G	TCGA-DU-5855-01A-11D-1705-08	48923977	76764102	78506458	64	3465											
ATRX	546	broad.mit.edu	37	X	76909629	76909629	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chrX:76909629G>A	ENST00000373344.5	-	14	4490	c.4276C>T	c.(4276-4278)Cga>Tga	p.R1426*	ATRX_ENST00000395603.3_Nonsense_Mutation_p.R1388*|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1426					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.R1426*(1)|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)	TTAATACGTCGCCTTTTCTTT	0.328			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						38	92					0	0	0.840704	0	0	A	76909629	G	A	76909629	4	1	76	1	0	0	0	0	0	1	0	0	1206	1095	38	1	3290	1	ATRX	23	76909629	Nonsense_Mutation	SNP	G	TCGA-DU-5855-01A-11D-1705-08	145527	76909629	78360931	65	3466											
ARHGEF6	9459	broad.mit.edu	37	X	135825810	135825810	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chrX:135825810C>A	ENST00000250617.6	-	5	1800	c.595G>T	c.(595-597)Gaa>Taa	p.E199*	ARHGEF6_ENST00000370622.1_Nonsense_Mutation_p.E45*|ARHGEF6_ENST00000370620.1_Nonsense_Mutation_p.E45*|ARHGEF6_ENST00000535227.1_Nonsense_Mutation_p.E45*	NM_004840.2	NP_004831.1	Q15052	ARHG6_HUMAN	Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6	199	SH3.			E -> G (in Ref. 2; CAD97632).	apoptosis|cell junction assembly|induction of apoptosis by extracellular signals|JNK cascade|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(1)|lung(14)|prostate(1)	38	Acute lymphoblastic leukemia(192;0.000127)					AATGTGCCTTCCCACCAGCCT	0.408													13	207					0.00136819	0.00146477	0.411799	1	0	A	135825810	C	A	135825810	4	1	76	1	0	0	0	0	0	1	0	0	907	864	30	5	1807	5	ARHGEF6	23	135825810	Nonsense_Mutation	SNP	C	TCGA-DU-5855-01A-11D-1705-08	58916181	135825810	19444750	66	3467											
MAGEC3	139081	broad.mit.edu	37	X	140969496	140969496	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chrX:140969496C>A	ENST00000298296.1	+	4	823	c.823C>A	c.(823-825)Ctc>Atc	p.L275I	MAGEC3_ENST00000443323.2_Intron|MAGEC3_ENST00000536088.1_Intron|MAGEC3_ENST00000448920.1_Intron	NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	275	MAGE 1.									NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					CCAGAACCGCCTCCTGATTCT	0.502													31	203					2.85442e-18	3.12954e-18	0.750413	1	0	A	140969496	C	A	140969496	3	1	76	1	0	0	0	0	1	0	0	0	9232	681	24	4	837	4	MAGEC3	23	140969496	Missense_Mutation	SNP	C	TCGA-DU-5855-01A-11D-1705-08	5143686	140969496	14301064	67	3468											
ACTL8	81569	broad.mit.edu	37	1	18149709	18149709	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-5870-01A-11D-1705-08	TCGA-DU-5870-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71d8a2ac-861c-4348-a5f7-b03e1a6ee007	8ecfbf90-3948-4e91-9eae-d052e56fdb4f	g.chr1:18149709G>A	ENST00000375406.1	+	2	422	c.206G>A	c.(205-207)cGg>cAg	p.R69Q		NM_030812.2	NP_110439.2	Q9H568	ACTL8_HUMAN	actin-like 8	69						cytoplasm|cytoskeleton		p.R69Q(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	28		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00186)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;6.43e-06)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.00652)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)		CCCATCGAGCGGGGCCGCATC	0.597													27	22					0	0	0.125774	0	0	A	18149709	G	A	18149709	3	1	77	1	0	0	0	0	1	0	0	0	202	1116	39	1	208	1	ACTL8	1	18149709	Missense_Mutation	SNP	G	TCGA-DU-5870-01A-11D-1705-08		18149709	231100912	1	3469											
RAB3B	5865	broad.mit.edu	37	1	52442779	52442779	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-5870-01A-11D-1705-08	TCGA-DU-5870-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71d8a2ac-861c-4348-a5f7-b03e1a6ee007	8ecfbf90-3948-4e91-9eae-d052e56fdb4f	g.chr1:52442779A>G	ENST00000371655.3	-	2	223	c.11T>C	c.(10-12)gTg>gCg	p.V4A		NM_002867.3	NP_002858.2	P20337	RAB3B_HUMAN	RAB3B, member RAS oncogene family	4					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity			large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	9						ACCATCTGTCACTGAAGCCAT	0.473													12	13					0	0	0.09319	0	0	G	52442779	A	G	52442779	3	3	77	1	0	0	0	0	1	0	0	0	12984	159	6	3	664	3	RAB3B	1	52442779	Missense_Mutation	SNP	A	TCGA-DU-5870-01A-11D-1705-08	34293070	52442779	196807842	2	3470											
TNR	7143	broad.mit.edu	37	1	175336428	175336428	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-5870-01A-11D-1705-08	TCGA-DU-5870-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71d8a2ac-861c-4348-a5f7-b03e1a6ee007	8ecfbf90-3948-4e91-9eae-d052e56fdb4f	g.chr1:175336428C>T	ENST00000367674.2	-	10	2677	c.1969G>A	c.(1969-1971)Gta>Ata	p.V657I	TNR_ENST00000263525.2_Missense_Mutation_p.V657I			Q92752	TENR_HUMAN	tenascin R		Fibronectin type-III 4.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					GTGCCAGGTACCAGATCTATC	0.478													5	25					0	0	0.021553	0	0	T	175336428	C	T	175336428	3	4	77	1	0	0	0	0	1	0	0	0	16398	507	18	2	2163	2	TNR	1	175336428	Missense_Mutation	SNP	C	TCGA-DU-5870-01A-11D-1705-08	122893649	175336428	73914193	3	3471											
SRGAP2	23380	broad.mit.edu	37	1	206566948	206566948	+	Missense_Mutation	SNP	G	G	A	rs2987928		TCGA-DU-5870-01A-11D-1705-08	TCGA-DU-5870-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71d8a2ac-861c-4348-a5f7-b03e1a6ee007	8ecfbf90-3948-4e91-9eae-d052e56fdb4f	g.chr1:206566948G>A	ENST00000414007.1	+	3	329	c.329G>A	c.(328-330)cGg>cAg	p.R110Q	SRGAP2_ENST00000419187.2_5'UTR			O75044	FNBP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 2	250					axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			NS(1)|breast(1)|kidney(1)|lung(1)	4	Breast(84;0.137)					ATCAAAGCCCGGAATGAGTAC	0.428													3	57					0	0	0.115264	0	0	A	206566948	G	A	206566948	3	1	77	1	0	0	0	0	1	0	0	0	15202	1116	39	1	503	1	SRGAP2	1	206566948	Missense_Mutation	SNP	G	TCGA-DU-5870-01A-11D-1705-08	31230520	206566948	42683673	4	3472											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-DU-5870-01A-11D-1705-08	TCGA-DU-5870-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71d8a2ac-861c-4348-a5f7-b03e1a6ee007	8ecfbf90-3948-4e91-9eae-d052e56fdb4f	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	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								26	45					0	0	0.116897	0	0	T	209113112	C	T	209113112	3	4	77	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-DU-5870-01A-11D-1705-08		209113112	34086261	5	3473											
GPR125	166647	broad.mit.edu	37	4	22390382	22390382	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-5870-01A-11D-1705-08	TCGA-DU-5870-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71d8a2ac-861c-4348-a5f7-b03e1a6ee007	8ecfbf90-3948-4e91-9eae-d052e56fdb4f	g.chr4:22390382T>C	ENST00000334304.5	-	19	3181	c.2912A>G	c.(2911-2913)aAt>aGt	p.N971S	GPR125_ENST00000282943.5_5'UTR	NM_145290.3	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	971					neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				ATCCTGATGATTTATTTCGCC	0.433													26	60					0	0	0.099896	0	0	C	22390382	T	C	22390382	3	2	77	1	0	0	0	0	1	0	0	0	6679	1493	52	3	1057	3	GPR125	4	22390382	Missense_Mutation	SNP	T	TCGA-DU-5870-01A-11D-1705-08		22390382	168763894	6	3474											
IRX2	153572	broad.mit.edu	37	5	2749842	2749842	+	Silent	SNP	G	G	A			TCGA-DU-5870-01A-11D-1705-08	TCGA-DU-5870-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71d8a2ac-861c-4348-a5f7-b03e1a6ee007	8ecfbf90-3948-4e91-9eae-d052e56fdb4f	g.chr5:2749842G>A	ENST00000382611.6	-	2	557	c.309C>T	c.(307-309)taC>taT	p.Y103Y	IRX2_ENST00000502957.1_5'UTR|IRX2_ENST00000302057.5_Silent_p.Y103Y	NM_001134222.1	NP_001127694.1	Q9BZI1	IRX2_HUMAN	iroquois homeobox 2	103						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)	26				GBM - Glioblastoma multiforme(108;0.204)		CCGCGCTGCCGTACGGGTGGT	0.672													18	18					0	0	0.204396	0	0	A	2749842	G	A	2749842	2	1	77	1	0	0	0	0	0	0	0	1	7888	1140	40	1		1	IRX2	5	2749842	Silent	SNP	G	TCGA-DU-5870-01A-11D-1705-08		2749842	178165418	7	3475											
PIK3R1	5295	broad.mit.edu	37	5	67591097	67591097	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-5870-01A-11D-1705-08	TCGA-DU-5870-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71d8a2ac-861c-4348-a5f7-b03e1a6ee007	8ecfbf90-3948-4e91-9eae-d052e56fdb4f	g.chr5:67591097A>G	ENST00000521381.1	+	13	2306	c.1690A>G	c.(1690-1692)Aac>Gac	p.N564D	PIK3R1_ENST00000521657.1_Missense_Mutation_p.N564D|PIK3R1_ENST00000320694.8_Missense_Mutation_p.N264D|PIK3R1_ENST00000523872.1_Missense_Mutation_p.N201D|PIK3R1_ENST00000336483.5_Missense_Mutation_p.N294D|PIK3R1_ENST00000396611.1_Missense_Mutation_p.N564D|PIK3R1_ENST00000274335.5_Missense_Mutation_p.N564D	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	564					epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.N564D(4)|p.D560_S565del(1)|p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	CAAACGTATGAACAGCATTAA	0.373			"Mis, F, O"		"gliobastoma, ovarian, colorectal"					TCGA GBM(4;<1E-08)			30	59					0	0	0.134883	0	0	G	67591097	A	G	67591097	3	3	77	1	0	0	0	0	1	0	0	0	11966	246	9	3	1866	3	PIK3R1	5	67591097	Missense_Mutation	SNP	A	TCGA-DU-5870-01A-11D-1705-08	64841255	67591097	113324163	8	3476											
ZNF366	167465	broad.mit.edu	37	5	71739768	71739768	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-5870-01A-11D-1705-08	TCGA-DU-5870-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71d8a2ac-861c-4348-a5f7-b03e1a6ee007	8ecfbf90-3948-4e91-9eae-d052e56fdb4f	g.chr5:71739768C>A	ENST00000318442.5	-	5	2540	c.2050G>T	c.(2050-2052)Ggg>Tgg	p.G684W		NM_152625.1	NP_689838.1	Q8N895	ZN366_HUMAN	zinc finger protein 366	684					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		CCCTCTGCCCCAAGGTCACCC	0.602													4	138					0.150653	0.160069	0.150653	1	0	A	71739768	C	A	71739768	3	1	77	1	0	0	0	0	1	0	0	0	17927	594	21	5	188	5	ZNF366	5	71739768	Missense_Mutation	SNP	C	TCGA-DU-5870-01A-11D-1705-08	4148671	71739768	109175492	9	3477											
SPZ1	84654	broad.mit.edu	37	5	79616416	79616416	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-5870-01A-11D-1705-08	TCGA-DU-5870-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71d8a2ac-861c-4348-a5f7-b03e1a6ee007	8ecfbf90-3948-4e91-9eae-d052e56fdb4f	g.chr5:79616416C>T	ENST00000296739.4	+	1	627	c.382C>T	c.(382-384)Cct>Tct	p.P128S		NM_032567.3	NP_115956.3	Q9BXG8	SPZ1_HUMAN	spermatogenic leucine zipper 1	128					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			endometrium(2)|kidney(5)|large_intestine(4)|lung(12)|ovary(1)|skin(2)	26		Lung NSC(167;0.0393)|all_lung(232;0.0428)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;3.43e-47)|Epithelial(54;2.25e-41)|all cancers(79;4.19e-36)		AACAAACCTGCCTGTTAGTTT	0.363													30	45					0	0	0.125774	0	0	T	79616416	C	T	79616416	3	4	77	1	0	0	0	0	1	0	0	0	15183	739	26	2	384	2	SPZ1	5	79616416	Missense_Mutation	SNP	C	TCGA-DU-5870-01A-11D-1705-08	7876648	79616416	101298844	10	3478											
PCDHA11	56138	broad.mit.edu	37	5	140249978	140249978	+	Silent	SNP	T	T	C			TCGA-DU-5870-01A-11D-1705-08	TCGA-DU-5870-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71d8a2ac-861c-4348-a5f7-b03e1a6ee007	8ecfbf90-3948-4e91-9eae-d052e56fdb4f	g.chr5:140249978T>C	ENST00000398640.2	+	1	1290	c.1290T>C	c.(1288-1290)ggT>ggC	p.G430G	PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron	NM_018902.3	NP_061725.1														breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGATGGGGGTTCGCCTTCTC	0.617													37	90					0	0	0.092188	0	0	C	140249978	T	C	140249978	2	2	77	1	0	0	0	0	0	0	0	1	11568	1712	60	3		3	PCDHA11	5	140249978	Silent	SNP	T	TCGA-DU-5870-01A-11D-1705-08	60633562	140249978	40665282	11	3479											
FOXK1	221937	broad.mit.edu	37	7	4796757	4796757	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-5870-01A-11D-1705-08	TCGA-DU-5870-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71d8a2ac-861c-4348-a5f7-b03e1a6ee007	8ecfbf90-3948-4e91-9eae-d052e56fdb4f	g.chr7:4796757C>G	ENST00000328914.4	+	5	1183	c.1183C>G	c.(1183-1185)Cgg>Ggg	p.R395G	FOXK1_ENST00000446823.1_Missense_Mutation_p.R232G	NM_001037165.1	NP_001032242.1	P85037	FOXK1_HUMAN	forkhead box K1	395					cell differentiation|embryo development|muscle organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|magnesium ion binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;7.43e-15)		ACAGGCATTCCGGAAACGGAG	0.577													35	76					0	0	0.092188	0	0	G	4796757	C	G	4796757	3	3	77	1	0	0	0	0	1	0	0	0	6048	643	23	5	1201	5	FOXK1	7	4796757	Missense_Mutation	SNP	C	TCGA-DU-5870-01A-11D-1705-08		4796757	154341906	12	3480											
TMEM132B	114795	broad.mit.edu	37	12	125834002	125834003	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-DU-5870-01A-11D-1705-08	TCGA-DU-5870-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71d8a2ac-861c-4348-a5f7-b03e1a6ee007	8ecfbf90-3948-4e91-9eae-d052e56fdb4f	g.chr12:125834002_125834003delAG	ENST00000299308.3	+	2	65_66	c.57_58delAG	c.(55-60)acagagfs	p.E20fs	TMEM132B_ENST00000418253.2_3'UTR	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	20						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		GTGCAGTGACAGAGAGTCGAGG	0.485													33	73	---	---	---	---						-	125834003	AG	-	125834002	7	5	77	1	0	1	0	1	0	0	0	0	16106	175	7	0	63	0	TMEM132B	12	125834002	Frame_Shift_Del	DEL	AG	TCGA-DU-5870-01A-11D-1705-08		125834002	8017893	13	3481											
THBS1	7057	broad.mit.edu	37	15	39882077	39882077	+	Silent	SNP	G	G	A			TCGA-DU-5870-01A-11D-1705-08	TCGA-DU-5870-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71d8a2ac-861c-4348-a5f7-b03e1a6ee007	8ecfbf90-3948-4e91-9eae-d052e56fdb4f	g.chr15:39882077G>A	ENST00000260356.5	+	13	2163	c.1998G>A	c.(1996-1998)ctG>ctA	p.L666L		NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN	thrombospondin 1	666	EGF-like 3.				activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	Becaplermin(DB00102)	GCAACTACCTGGGCCACTATA	0.602													7	24					0	0	0.02938	0	0	A	39882077	G	A	39882077	2	1	77	1	0	0	0	0	0	0	0	1	15913	1335	47	2		2	THBS1	15	39882077	Silent	SNP	G	TCGA-DU-5870-01A-11D-1705-08		39882077	62649315	14	3482											
CIC	23152	broad.mit.edu	37	19	42791757	42791757	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-5870-01A-11D-1705-08	TCGA-DU-5870-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71d8a2ac-861c-4348-a5f7-b03e1a6ee007	8ecfbf90-3948-4e91-9eae-d052e56fdb4f	g.chr19:42791757C>T	ENST00000572681.2	+	6	3438	c.3370C>T	c.(3370-3372)Cgg>Tgg	p.R1124W	CIC_ENST00000575354.2_Missense_Mutation_p.R215W|CIC_ENST00000160740.3_Missense_Mutation_p.R215W			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	215	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	p.R215W(4)		autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CAAGCGGCACCGGGCCCTGGT	0.612			"Mis, F, S"		oligodendroglioma								10	15					0	0	0.058154	0	0	T	42791757	C	T	42791757	3	4	77	1	0	0	0	0	1	0	0	0	3446	643	23	1	661	1	CIC	19	42791757	Missense_Mutation	SNP	C	TCGA-DU-5870-01A-11D-1705-08		42791757	16337226	15	3483											
NLRP4	147945	broad.mit.edu	37	19	56369920	56369920	+	Silent	SNP	C	C	T			TCGA-DU-5870-01A-11D-1705-08	TCGA-DU-5870-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71d8a2ac-861c-4348-a5f7-b03e1a6ee007	8ecfbf90-3948-4e91-9eae-d052e56fdb4f	g.chr19:56369920C>T	ENST00000301295.6	+	3	1583	c.1161C>T	c.(1159-1161)ggC>ggT	p.G387G	NLRP4_ENST00000587891.1_Silent_p.G312G|NLRP4_ENST00000346986.5_Silent_p.G387G	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	387	NACHT.						ATP binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		GTGCCGAGGGCCCGACTCCGC	0.562													12	18					0	0	0.09319	0	0	T	56369920	C	T	56369920	2	4	77	1	0	0	0	0	0	0	0	1	10526	726	26	2		2	NLRP4	19	56369920	Silent	SNP	C	TCGA-DU-5870-01A-11D-1705-08	13578163	56369920	2759063	16	3484											
FBLN1	2192	broad.mit.edu	37	22	45996261	45996261	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-5870-01A-11D-1705-08	TCGA-DU-5870-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71d8a2ac-861c-4348-a5f7-b03e1a6ee007	8ecfbf90-3948-4e91-9eae-d052e56fdb4f	g.chr22:45996261G>A	ENST00000348697.2	+	20	2194	c.2047G>A	c.(2047-2049)Ggg>Agg	p.G683R	FBLN1_ENST00000327858.6_Missense_Mutation_p.G683R			P23142	FBLN1_HUMAN	fibulin 1	683					interspecies interaction between organisms	extracellular space|soluble fraction	calcium ion binding|extracellular matrix structural constituent|protein binding			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	30		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		CTATGTGGTCGGGGGCGTGGT	0.612													24	250					0	0	0.069288	0	0	A	45996261	G	A	45996261	3	1	77	1	0	0	0	0	1	0	0	0	5731	1116	39	1	2593	1	FBLN1	22	45996261	Missense_Mutation	SNP	G	TCGA-DU-5870-01A-11D-1705-08		45996261	5308305	17	3485											
CD40LG	959	broad.mit.edu	37	X	135741431	135741431	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-5870-01A-11D-1705-08	TCGA-DU-5870-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71d8a2ac-861c-4348-a5f7-b03e1a6ee007	8ecfbf90-3948-4e91-9eae-d052e56fdb4f	g.chrX:135741431G>A	ENST00000370629.2	+	5	699	c.643G>A	c.(643-645)Gcc>Acc	p.A215T	CD40LG_ENST00000370628.2_Missense_Mutation_p.A194T	NM_000074.2	NP_000065.1	P29965	CD40L_HUMAN	CD40 ligand	215					anti-apoptosis|B cell proliferation|inflammatory response|isotype switching|leukocyte cell-cell adhesion|platelet activation|positive regulation of endothelial cell apoptosis|positive regulation of interleukin-12 production	extracellular space|integral to plasma membrane|soluble fraction	CD40 receptor binding|cytokine activity|tumor necrosis factor receptor binding			endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|skin(1)|stomach(1)	26	Acute lymphoblastic leukemia(192;0.000127)				Atorvastatin(DB01076)	CCACAGTTCCGCCAAACCTTG	0.493									Immune Deficiency with Hyper-IgM				6	267					0	0	0.02938	0	0	A	135741431	G	A	135741431	3	1	77	1	0	0	0	0	1	0	0	0	3038	1087	38	1	661	1	CD40LG	23	135741431	Missense_Mutation	SNP	G	TCGA-DU-5870-01A-11D-1705-08		135741431	19529129	18	3486											
IL23R	149233	broad.mit.edu	37	1	67672664	67672664	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-5871-01A-12D-1705-08	TCGA-DU-5871-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	284eb475-87a9-4787-8fb6-acbd64a5e192	ffbf073f-cbe7-420a-954f-b6b9c39a9bd8	g.chr1:67672664T>C	ENST00000347310.5	+	6	895	c.724T>C	c.(724-726)Tgg>Cgg	p.W242R	IL23R_ENST00000371002.1_Missense_Mutation_p.W242R|C1orf141_ENST00000371007.2_Intron	NM_144701.2	NP_653302.2	Q5VWK5	IL23R_HUMAN	interleukin 23 receptor	242	Fibronectin type-III 2.				inflammatory response|negative regulation of interleukin-10 production|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of interleukin-12 production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|response to interferon-gamma|response to lipopolysaccharide	interleukin-23 receptor complex	receptor activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	21						CATAATTTATTGGGATAGTCA	0.353													10	40					0	0	0.058154	0	0	C	67672664	T	C	67672664	3	2	78	1	0	0	0	0	1	0	0	0	7720	1812	63	3	742	3	IL23R	1	67672664	Missense_Mutation	SNP	T	TCGA-DU-5871-01A-12D-1705-08		67672664	181577957	1	3487											
EPHX4	253152	broad.mit.edu	37	1	92495797	92495797	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-5871-01A-12D-1705-08	TCGA-DU-5871-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	284eb475-87a9-4787-8fb6-acbd64a5e192	ffbf073f-cbe7-420a-954f-b6b9c39a9bd8	g.chr1:92495797C>T	ENST00000370383.4	+	1	259	c.161C>T	c.(160-162)cCc>cTc	p.P54L		NM_173567.4	NP_775838.3	Q8IUS5	EPHX4_HUMAN	epoxide hydrolase 4	54						integral to membrane	hydrolase activity			central_nervous_system(1)|large_intestine(3)|lung(8)	12						TTCCGGCGGCCCGCCCGGGAG	0.706													3	3					0	0	0.150653	0	0	T	92495797	C	T	92495797	3	4	78	1	0	0	0	0	1	0	0	0	5210	623	22	2	163	2	EPHX4	1	92495797	Missense_Mutation	SNP	C	TCGA-DU-5871-01A-12D-1705-08	24823133	92495797	156754824	2	3488											
HMCN1	83872	broad.mit.edu	37	1	186105940	186105940	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-5871-01A-12D-1705-08	TCGA-DU-5871-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	284eb475-87a9-4787-8fb6-acbd64a5e192	ffbf073f-cbe7-420a-954f-b6b9c39a9bd8	g.chr1:186105940C>T	ENST00000271588.4	+	87	13682	c.13453C>T	c.(13453-13455)Cgg>Tgg	p.R4485W	HMCN1_ENST00000367492.2_Missense_Mutation_p.R4485W	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	4485	Ig-like C2-type 44.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CTGGGATGACCGGGTTAACGT	0.428													11	47					0	0	0.069234	0	0	T	186105940	C	T	186105940	3	4	78	1	0	0	0	0	1	0	0	0	7261	643	23	1	13799	1	HMCN1	1	186105940	Missense_Mutation	SNP	C	TCGA-DU-5871-01A-12D-1705-08	93610143	186105940	63144681	3	3489											
DQX1	165545	broad.mit.edu	37	2	74747092	74747092	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-5871-01A-12D-1705-08	TCGA-DU-5871-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	284eb475-87a9-4787-8fb6-acbd64a5e192	ffbf073f-cbe7-420a-954f-b6b9c39a9bd8	g.chr2:74747092G>A	ENST00000404568.3	-	9	1784	c.1565C>T	c.(1564-1566)aCg>aTg	p.T522M	DQX1_ENST00000393951.2_Missense_Mutation_p.T522M	NM_133637.2	NP_598376.2	Q8TE96	DQX1_HUMAN	DEAQ box RNA-dependent ATPase 1	522						nucleus	ATP binding|helicase activity|nucleic acid binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	18						GTCACCATCCGTGTGTTCCAG	0.512													10	111					0	0	0.080935	0	0	A	74747092	G	A	74747092	3	1	78	1	0	0	0	0	1	0	0	0	4777	1145	40	1	604	1	DQX1	2	74747092	Missense_Mutation	SNP	G	TCGA-DU-5871-01A-12D-1705-08		74747092	168452281	4	3490											
ITGA6	3655	broad.mit.edu	37	2	173366539	173366539	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-5871-01A-12D-1705-08	TCGA-DU-5871-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	284eb475-87a9-4787-8fb6-acbd64a5e192	ffbf073f-cbe7-420a-954f-b6b9c39a9bd8	g.chr2:173366539G>A	ENST00000375221.2	+	26	3474	c.3271G>A	c.(3271-3273)Gcc>Acc	p.A1091T	ITGA6_ENST00000264106.6_Intron|ITGA6_ENST00000264107.7_Missense_Mutation_p.A1052T|ITGA6_ENST00000343713.4_Missense_Mutation_p.A1047T|ITGA6_ENST00000409532.1_Missense_Mutation_p.A933T|ITGA6_ENST00000409080.1_Intron|AC093818.1_ENST00000442417.1_RNA			P23229	ITA6_HUMAN	integrin, alpha 6	1091					blood coagulation|cell adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter	integrin complex	protein binding|receptor activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	44			OV - Ovarian serous cystadenocarcinoma(117;0.0979)			TCATTATGATGCCACATATCA	0.363													28	59					0	0	0.163468	0	0	A	173366539	G	A	173366539	3	1	78	1	0	0	0	0	1	0	0	0	7924	1319	46	2	3252	2	ITGA6	2	173366539	Missense_Mutation	SNP	G	TCGA-DU-5871-01A-12D-1705-08	98619447	173366539	69832834	5	3491											
IDH1	3417	broad.mit.edu	37	2	209113113	209113113	+	Missense_Mutation	SNP	G	G	C	rs121913499		TCGA-DU-5871-01A-12D-1705-08	TCGA-DU-5871-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	284eb475-87a9-4787-8fb6-acbd64a5e192	ffbf073f-cbe7-420a-954f-b6b9c39a9bd8	g.chr2:209113113G>C	ENST00000415913.1	-	4	775	c.394C>G	c.(394-396)Cgt>Ggt	p.R132G	IDH1_ENST00000446179.1_Missense_Mutation_p.R132G|IDH1_ENST00000345146.2_Missense_Mutation_p.R132G	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		TAAGCATGACGACCTATGATG	0.398			Mis		gliobastoma								39	50					0	0	0.080422	0	0	C	209113113	G	C	209113113	3	2	78	1	0	0	0	0	1	0	0	0	7538	1058	37	5	878	5	IDH1	2	209113113	Missense_Mutation	SNP	G	TCGA-DU-5871-01A-12D-1705-08	35746574	209113113	34086260	6	3492											
TUBA4A	7277	broad.mit.edu	37	2	220115527	220115527	+	Silent	SNP	A	A	G			TCGA-DU-5871-01A-12D-1705-08	TCGA-DU-5871-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	284eb475-87a9-4787-8fb6-acbd64a5e192	ffbf073f-cbe7-420a-954f-b6b9c39a9bd8	g.chr2:220115527A>G	ENST00000392088.2	-	4	1404	c.849T>C	c.(847-849)ccT>ccC	p.P283P	TUBA4A_ENST00000248437.4_Silent_p.P298P|TUBA4A_ENST00000498660.1_5'UTR	NM_001278552.1	NP_001265481.1	P68366	TBA4A_HUMAN	tubulin, alpha 4a	298					'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|platelet activation|platelet degranulation|protein polymerization	cytosol|extracellular region|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	20		Renal(207;0.0474)		Epithelial(149;1.16e-06)|all cancers(144;0.000191)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TCTGGTTGGCAGGCTCAAAGC	0.577													3	82					0	0	0.150653	0	0	G	220115527	A	G	220115527	2	3	78	1	0	0	0	0	0	0	0	1	16811	175	7	3		3	TUBA4A	2	220115527	Silent	SNP	A	TCGA-DU-5871-01A-12D-1705-08	11002414	220115527	23083846	7	3493											
GPRIN3	285513	broad.mit.edu	37	4	90169964	90169964	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-5871-01A-12D-1705-08	TCGA-DU-5871-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	284eb475-87a9-4787-8fb6-acbd64a5e192	ffbf073f-cbe7-420a-954f-b6b9c39a9bd8	g.chr4:90169964G>A	ENST00000609438.1	-	2	1816	c.1298C>T	c.(1297-1299)aCg>aTg	p.T433M	GPRIN3_ENST00000333209.4_Missense_Mutation_p.T433M	NM_198281.2	NP_938022.2	Q6ZVF9	GRIN3_HUMAN	GPRIN family member 3											breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|prostate(2)|skin(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)		TTCTTTACACGTATGCTGGGC	0.468													17	100					0	0	0.175082	0	0	A	90169964	G	A	90169964	3	1	78	1	0	0	0	0	1	0	0	0	6772	1145	40	1	1036	1	GPRIN3	4	90169964	Missense_Mutation	SNP	G	TCGA-DU-5871-01A-12D-1705-08		90169964	100984312	8	3494											
RXFP1	59350	broad.mit.edu	37	4	159533494	159533494	+	Silent	SNP	A	A	C			TCGA-DU-5871-01A-12D-1705-08	TCGA-DU-5871-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	284eb475-87a9-4787-8fb6-acbd64a5e192	ffbf073f-cbe7-420a-954f-b6b9c39a9bd8	g.chr4:159533494A>C	ENST00000307765.5	+	8	911	c.660A>C	c.(658-660)ggA>ggC	p.G220G	RXFP1_ENST00000470033.1_Silent_p.G187G|RXFP1_ENST00000460056.2_Silent_p.G139G|RXFP1_ENST00000343542.5_Silent_p.G220G|RXFP1_ENST00000448688.2_Silent_p.G139G	NM_001253727.1|NM_001253728.1|NM_001253730.1|NM_001253732.1|NM_001253733.1|NM_021634.3	NP_001240656.1|NP_001240657.1|NP_001240659.1|NP_001240661.1|NP_001240662.1|NP_067647.2	Q9HBX9	RXFP1_HUMAN	relaxin/insulin-like family peptide receptor 1	220						integral to membrane|plasma membrane	G-protein coupled receptor activity|metal ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10)	49	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0219)		CATTTTATGGACTAAATTCTC	0.274													8	17					0	0	0.047766	0	0	C	159533494	A	C	159533494	2	2	78	1	0	0	0	0	0	0	0	1	13811	262	10	5		5	RXFP1	4	159533494	Silent	SNP	A	TCGA-DU-5871-01A-12D-1705-08	69363530	159533494	31620782	9	3495											
SLCO4C1	353189	broad.mit.edu	37	5	101585438	101585438	+	Silent	SNP	C	C	T			TCGA-DU-5871-01A-12D-1705-08	TCGA-DU-5871-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	284eb475-87a9-4787-8fb6-acbd64a5e192	ffbf073f-cbe7-420a-954f-b6b9c39a9bd8	g.chr5:101585438C>T	ENST00000310954.6	-	9	1810	c.1524G>A	c.(1522-1524)tcG>tcA	p.S508S		NM_180991.4	NP_851322.3	Q6ZQN7	SO4C1_HUMAN	solute carrier organic anion transporter family, member 4C1	508	Kazal-like.				cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		AATATGATCGCGAACAGTTAC	0.408													33	31					0	0	0.064281	0	0	T	101585438	C	T	101585438	2	4	78	1	0	0	0	0	0	0	0	1	14785	755	27	1		1	SLCO4C1	5	101585438	Silent	SNP	C	TCGA-DU-5871-01A-12D-1705-08		101585438	79329822	10	3496											
ADRB2	154	broad.mit.edu	37	5	148207421	148207421	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-5871-01A-12D-1705-08	TCGA-DU-5871-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	284eb475-87a9-4787-8fb6-acbd64a5e192	ffbf073f-cbe7-420a-954f-b6b9c39a9bd8	g.chr5:148207421C>T	ENST00000305988.4	+	1	1266	c.1027C>T	c.(1027-1029)Cgc>Tgc	p.R343C		NM_000024.5	NP_000015	P07550	ADRB2_HUMAN	adrenoceptor beta 2, surface	343					activation of transmembrane receptor protein tyrosine kinase activity|desensitization of G-protein coupled receptor protein signaling pathway by arrestin|endosome to lysosome transport|positive regulation of MAPKKK cascade|receptor-mediated endocytosis	endosome|integral to plasma membrane|lysosome|receptor complex	beta2-adrenergic receptor activity|norepinephrine binding|potassium channel regulator activity|protein homodimerization activity			endometrium(1)|kidney(1)|lung(8)|ovary(1)|prostate(3)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Alprenolol(DB00866)|Arformoterol(DB01274)|Bambuterol(DB01408)|Bisoprolol(DB00612)|Bitolterol(DB00901)|Bretylium(DB01158)|Carteolol(DB00521)|Carvedilol(DB01136)|Clenbuterol(DB01407)|Desipramine(DB01151)|Epinephrine(DB00668)|Fenoterol(DB01288)|Formoterol(DB00983)|Isoproterenol(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Metipranolol(DB01214)|Nadolol(DB01203)|Norepinephrine(DB00368)|Orciprenaline(DB00816)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Pindolol(DB00960)|Pirbuterol(DB01291)|Procaterol(DB01366)|Propranolol(DB00571)|Pseudoephedrine(DB00852)|Ritodrine(DB00867)|Salbutamol(DB01001)|Salmeterol(DB00938)|Terbutaline(DB00871)|Timolol(DB00373)	TCTGTGCCTGCGCAGGTCTTC	0.493													6	37					0	0	0.021553	0	0	T	148207421	C	T	148207421	3	4	78	1	0	0	0	0	1	0	0	0	340	768	27	1	1029	1	ADRB2	5	148207421	Missense_Mutation	SNP	C	TCGA-DU-5871-01A-12D-1705-08	46621983	148207421	32707839	11	3497											
FLT4	2324	broad.mit.edu	37	5	180046671	180046671	+	Silent	SNP	G	G	A			TCGA-DU-5871-01A-12D-1705-08	TCGA-DU-5871-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	284eb475-87a9-4787-8fb6-acbd64a5e192	ffbf073f-cbe7-420a-954f-b6b9c39a9bd8	g.chr5:180046671G>A	ENST00000261937.6	-	18	2719	c.2641C>T	c.(2641-2643)Ctg>Ttg	p.L881L	FLT4_ENST00000502649.1_Silent_p.L881L|FLT4_ENST00000393347.3_Silent_p.L881L	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	881	Protein kinase.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	ACACCTTTCAGCATTTTCACG	0.657													3	83					0	0	0.150653	0	0	A	180046671	G	A	180046671	2	1	78	1	0	0	0	0	0	0	0	1	5977	962	34	2		2	FLT4	5	180046671	Silent	SNP	G	TCGA-DU-5871-01A-12D-1705-08	31839250	180046671	868589	12	3498											
TSC22D4	81628	broad.mit.edu	37	7	100064708	100064708	+	Silent	SNP	C	C	A			TCGA-DU-5871-01A-12D-1705-08	TCGA-DU-5871-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	284eb475-87a9-4787-8fb6-acbd64a5e192	ffbf073f-cbe7-420a-954f-b6b9c39a9bd8	g.chr7:100064708C>A	ENST00000300181.2	-	5	1816	c.1062G>T	c.(1060-1062)cgG>cgT	p.R354R	TSC22D4_ENST00000393991.1_Silent_p.R115R|TSC22D4_ENST00000496728.1_Intron	NM_030935.3	NP_112197.1	Q9Y3Q8	T22D4_HUMAN	TSC22 domain family, member 4	354	Leucine-zipper.				negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|urinary_tract(1)	8	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GCGCAGCGTTCCGCTCCGCCA	0.697													10	25					7.48243e-07	7.90596e-07	0.058154	1	0	A	100064708	C	A	100064708	2	1	78	1	0	0	0	0	0	0	0	1	16671	842	30	5		5	TSC22D4	7	100064708	Silent	SNP	C	TCGA-DU-5871-01A-12D-1705-08		100064708	59073955	13	3499											
PCM1	5108	broad.mit.edu	37	8	17796415	17796415	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-5871-01A-12D-1705-08	TCGA-DU-5871-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	284eb475-87a9-4787-8fb6-acbd64a5e192	ffbf073f-cbe7-420a-954f-b6b9c39a9bd8	g.chr8:17796415A>G	ENST00000325083.8	+	5	948	c.509A>G	c.(508-510)cAg>cGg	p.Q170R	PCM1_ENST00000518537.1_Missense_Mutation_p.Q170R|PCM1_ENST00000519253.1_Missense_Mutation_p.Q170R|PCM1_ENST00000524226.1_Missense_Mutation_p.Q170R	NM_006197.3	NP_006188	Q15154	PCM1_HUMAN	pericentriolar material 1	170					centrosome organization|cilium assembly|G2/M transition of mitotic cell cycle|interkinetic nuclear migration|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome	centriolar satellite|cytosol|nuclear membrane|pericentriolar material	identical protein binding		PCM1/JAK2(30)	breast(4)|endometrium(8)|kidney(5)|large_intestine(16)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	48				Colorectal(111;0.0789)		GGATCAGCACAGTGTAAAGAG	0.438			T	"RET, JAK2"	"papillary thyroid, CML, MPD"								5	45					0	0	0.021553	0	0	G	17796415	A	G	17796415	3	3	78	1	0	0	0	0	1	0	0	0	11631	188	7	3	519	3	PCM1	8	17796415	Missense_Mutation	SNP	A	TCGA-DU-5871-01A-12D-1705-08		17796415	128567607	14	3500											
PIWIL2	55124	broad.mit.edu	37	8	22173813	22173813	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-5871-01A-12D-1705-08	TCGA-DU-5871-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	284eb475-87a9-4787-8fb6-acbd64a5e192	ffbf073f-cbe7-420a-954f-b6b9c39a9bd8	g.chr8:22173813G>A	ENST00000356766.6	+	19	2412	c.2264G>A	c.(2263-2265)cGc>cAc	p.R755H	PIWIL2_ENST00000521356.1_Missense_Mutation_p.R755H|PIWIL2_ENST00000454009.2_Missense_Mutation_p.R755H	NM_018068.3	NP_060538.2	Q8TC59	PIWL2_HUMAN	piwi-like RNA-mediated gene silencing 2	755	Piwi.				DNA methylation involved in gamete generation|gene silencing by RNA|germ-line stem cell maintenance|multicellular organismal development|oogenesis|piRNA metabolic process|positive regulation of translation|RNA 5'-end processing|spermatogenesis	chromatoid body|pi-body	piRNA binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(14)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	46				Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)		AGAGGCATGCGCTCCGTGGTT	0.413													18	21					0	0	0.055883	0	0	A	22173813	G	A	22173813	3	1	78	1	0	0	0	0	1	0	0	0	12006	1087	38	1	2334	1	PIWIL2	8	22173813	Missense_Mutation	SNP	G	TCGA-DU-5871-01A-12D-1705-08	4377398	22173813	124190209	15	3501											
IFNB1	3456	broad.mit.edu	37	9	21077516	21077516	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-5871-01A-12D-1705-08	TCGA-DU-5871-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	284eb475-87a9-4787-8fb6-acbd64a5e192	ffbf073f-cbe7-420a-954f-b6b9c39a9bd8	g.chr9:21077516T>C	ENST00000380232.2	-	1	427	c.353A>G	c.(352-354)cAt>cGt	p.H118R		NM_002176.2	NP_002167.1	P01574	IFNB_HUMAN	interferon, beta 1, fibroblast	118					activation of caspase activity|B cell proliferation|blood coagulation|cellular response to exogenous dsRNA|defense response to virus|induction of apoptosis|natural killer cell activation|negative regulation of cell proliferation|negative regulation of T cell differentiation|negative regulation of T-helper 2 cell cytokine production|negative regulation of viral genome replication|negative regulation of viral transcription|negative regulation of virion penetration into host cell|positive regulation of innate immune response|positive regulation of transcription from RNA polymerase II promoter|regulation of MHC class I biosynthetic process|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding|transcription corepressor activity			breast(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)	12				GBM - Glioblastoma multiforme(5;7.45e-142)|Lung(24;2.42e-17)|LUSC - Lung squamous cell carcinoma(38;7.17e-11)	Interferon beta-1a(DB00060)|Interferon beta-1b(DB00068)	TGTCTTCAGATGGTTTATCTG	0.413													6	241					0	0	0.02938	0	0	C	21077516	T	C	21077516	3	2	78	1	0	0	0	0	1	0	0	0	7590	1464	51	3	214	3	IFNB1	9	21077516	Missense_Mutation	SNP	T	TCGA-DU-5871-01A-12D-1705-08		21077516	120135915	16	3502											
CNTFR	1271	broad.mit.edu	37	9	34556300	34556300	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-5871-01A-12D-1705-08	TCGA-DU-5871-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	284eb475-87a9-4787-8fb6-acbd64a5e192	ffbf073f-cbe7-420a-954f-b6b9c39a9bd8	g.chr9:34556300T>C	ENST00000378980.3	-	7	1014	c.721A>G	c.(721-723)Aag>Gag	p.K241E	CNTFR_ENST00000351266.4_Missense_Mutation_p.K241E	NM_001207011.1|NM_147164.2	NP_001193940.1|NP_671693.1	P26992	CNTFR_HUMAN	ciliary neurotrophic factor receptor	241	Fibronectin type-III 2.				nervous system development	anchored to membrane|extrinsic to membrane|plasma membrane	ciliary neurotrophic factor receptor activity|receptor binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(4)|skin(1)	15	all_epithelial(49;0.0899)		STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.00494)		AGAAAGAACTTGAGAGGAAAA	0.607													9	21					0	0	0.047766	0	0	C	34556300	T	C	34556300	3	2	78	1	0	0	0	0	1	0	0	0	3661	1821	63	3	413	3	CNTFR	9	34556300	Missense_Mutation	SNP	T	TCGA-DU-5871-01A-12D-1705-08	13478784	34556300	106657131	17	3503											
RHOBTB1	9886	broad.mit.edu	37	10	62648196	62648196	+	Silent	SNP	A	A	G			TCGA-DU-5871-01A-12D-1705-08	TCGA-DU-5871-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	284eb475-87a9-4787-8fb6-acbd64a5e192	ffbf073f-cbe7-420a-954f-b6b9c39a9bd8	g.chr10:62648196A>G	ENST00000337910.5	-	6	1567	c.1230T>C	c.(1228-1230)ccT>ccC	p.P410P	RHOBTB1_ENST00000357917.4_Silent_p.P410P	NM_001242359.1|NM_014836.4	NP_001229288.1|NP_055651.1	O94844	RHBT1_HUMAN	Rho-related BTB domain containing 1	410	BTB 1.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding			endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	Prostate(12;0.0112)					GGGTCCGAAAAGGGCCTGGCT	0.537													3	62					0	0	0.115264	0	0	G	62648196	A	G	62648196	2	3	78	1	0	0	0	0	0	0	0	1	13383	59	3	3		3	RHOBTB1	10	62648196	Silent	SNP	A	TCGA-DU-5871-01A-12D-1705-08		62648196	72886551	18	3504											
SLC16A12	387700	broad.mit.edu	37	10	91192821	91192821	+	Nonstop_Mutation	SNP	T	T	C			TCGA-DU-5871-01A-12D-1705-08	TCGA-DU-5871-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	284eb475-87a9-4787-8fb6-acbd64a5e192	ffbf073f-cbe7-420a-954f-b6b9c39a9bd8	g.chr10:91192821T>C	ENST00000341233.4	-	8	1851	c.1461A>G	c.(1459-1461)tgA>tgG	p.*487W	SLC16A12_ENST00000371790.4_Nonstop_Mutation_p.*517W	NM_213606.3	NP_998771.3	Q6ZSM3	MOT12_HUMAN	solute carrier family 16, member 12	0						integral to membrane|plasma membrane	symporter activity			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(4)|skin(1)|stomach(1)	14						AGGCCTTTGGTCATGTGAGGC	0.478													22	50					0	0	0.062417	0	0	C	91192821	T	C	91192821	4	2	78	1	0	0	0	0	0	0	0	0	14460	1680	58	3	3	3	SLC16A12	10	91192821	Nonstop_Mutation	SNP	T	TCGA-DU-5871-01A-12D-1705-08	28544625	91192821	44341926	19	3505											
OR5M10	390167	broad.mit.edu	37	11	56345128	56345128	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-5871-01A-12D-1705-08	TCGA-DU-5871-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	284eb475-87a9-4787-8fb6-acbd64a5e192	ffbf073f-cbe7-420a-954f-b6b9c39a9bd8	g.chr11:56345128C>G	ENST00000526812.2	-	1	135	c.70G>C	c.(70-72)Gag>Cag	p.E24Q		NM_001004741.1	NP_001004741.1	Q6IEU7	OR5MA_HUMAN	olfactory receptor, family 5, subfamily M, member 10	24					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(2)	25						AGGATCTTCTCTAGCACTGGG	0.463													16	105					0	0	0.160694	0	0	G	56345128	C	G	56345128	3	3	78	1	0	0	0	0	1	0	0	0	11220	922	32	4	881	4	OR5M10	11	56345128	Missense_Mutation	SNP	C	TCGA-DU-5871-01A-12D-1705-08		56345128	78661388	20	3506											
GANAB	23193	broad.mit.edu	37	11	62396710	62396710	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-5871-01A-12D-1705-08	TCGA-DU-5871-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	284eb475-87a9-4787-8fb6-acbd64a5e192	ffbf073f-cbe7-420a-954f-b6b9c39a9bd8	g.chr11:62396710G>C	ENST00000346178.4	-	17	1973	c.1958C>G	c.(1957-1959)cCt>cGt	p.P653R	GANAB_ENST00000540933.1_Missense_Mutation_p.P534R|GANAB_ENST00000356638.3_Missense_Mutation_p.P631R|GANAB_ENST00000534779.1_Missense_Mutation_p.P539R	NM_001278192.1|NM_198335.2	NP_001265121.1|NP_938149.2	Q14697	GANAB_HUMAN	glucosidase, alpha; neutral AB	631					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|Golgi apparatus|melanosome	carbohydrate binding|glucan 1,3-alpha-glucosidase activity|protein binding			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3)	35						GAGACACATAGGAATAGAGAT	0.537													3	69					0	0	0.115264	0	0	C	62396710	G	C	62396710	3	2	78	1	0	0	0	0	1	0	0	0	6273	1000	35	4	978	4	GANAB	11	62396710	Missense_Mutation	SNP	G	TCGA-DU-5871-01A-12D-1705-08	6051582	62396710	72609806	21	3507											
SNX15	29907	broad.mit.edu	37	11	64803113	64803113	+	Silent	SNP	C	C	T			TCGA-DU-5871-01A-12D-1705-08	TCGA-DU-5871-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	284eb475-87a9-4787-8fb6-acbd64a5e192	ffbf073f-cbe7-420a-954f-b6b9c39a9bd8	g.chr11:64803113C>T	ENST00000377244.3	+	6	772	c.642C>T	c.(640-642)ctC>ctT	p.L214L	RP11-399J13.3_ENST00000301886.3_3'UTR|SNX15_ENST00000352068.5_Silent_p.L214L	NM_013306.4|NM_147777.3	NP_037438.2|NP_680086.2	Q9NRS6	SNX15_HUMAN	sorting nexin 15	214					cell communication|intracellular protein transport	cytoplasmic vesicle membrane|cytosol	phosphatidylinositol binding|protein transporter activity			endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	14						AGCTTGCCCTCTTCGACCCCT	0.647													4	120					0	0	0.014758	0	0	T	64803113	C	T	64803113	2	4	78	1	0	0	0	0	0	0	0	1	14940	900	32	2		2	SNX15	11	64803113	Silent	SNP	C	TCGA-DU-5871-01A-12D-1705-08	2406403	64803113	70203403	22	3508											
MSI1	4440	broad.mit.edu	37	12	120784021	120784021	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DU-5871-01A-12D-1705-08	TCGA-DU-5871-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	284eb475-87a9-4787-8fb6-acbd64a5e192	ffbf073f-cbe7-420a-954f-b6b9c39a9bd8	g.chr12:120784021delC	ENST00000257552.2	-	13	1052	c.964delG	c.(964-966)gcgfs	p.A323fs		NM_002442.3	NP_002433.1	O43347	MSI1H_HUMAN	musashi RNA-binding protein 1	323					nervous system development	cytoplasm|nucleus	nucleotide binding			breast(4)|central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(5)|skin(2)	19	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TGGTTGGCCGCCCCGTAGAGC	0.706													2	4	---	---	---	---						-	120784021	C	-	120784021	7	5	78	1	0	1	0	1	0	0	0	0	9924	739	26	0	132	0	MSI1	12	120784021	Frame_Shift_Del	DEL	C	TCGA-DU-5871-01A-12D-1705-08		120784021	13067874	23	3509											
TPTE2	93492	broad.mit.edu	37	13	20039401	20039401	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-5871-01A-12D-1705-08	TCGA-DU-5871-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	284eb475-87a9-4787-8fb6-acbd64a5e192	ffbf073f-cbe7-420a-954f-b6b9c39a9bd8	g.chr13:20039401C>T	ENST00000400230.2	-	9	714	c.670G>A	c.(670-672)Gtt>Att	p.V224I	TPTE2_ENST00000382977.4_Missense_Mutation_p.V224I|TPTE2_ENST00000457266.2_Missense_Mutation_p.V113I|TPTE2_ENST00000390680.2_Missense_Mutation_p.V147I|TPTE2_ENST00000382978.1_Missense_Mutation_p.V184I|TPTE2_ENST00000255310.6_Missense_Mutation_p.V147I|TPTE2_ENST00000400103.2_Missense_Mutation_p.V113I|TPTE2_ENST00000382975.4_Missense_Mutation_p.V184I			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	224	Phosphatase tensin-type.					endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		AAACCTGTAACGTAAGTGAGG	0.323													7	192					0	0	0.038147	0	0	T	20039401	C	T	20039401	3	4	78	1	0	0	0	0	1	0	0	0	16492	536	19	1	946	1	TPTE2	13	20039401	Missense_Mutation	SNP	C	TCGA-DU-5871-01A-12D-1705-08		20039401	95130477	24	3510											
NRXN3	9369	broad.mit.edu	37	14	79933737	79933737	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-5871-01A-12D-1705-08	TCGA-DU-5871-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	284eb475-87a9-4787-8fb6-acbd64a5e192	ffbf073f-cbe7-420a-954f-b6b9c39a9bd8	g.chr14:79933737C>G	ENST00000281127.7	+	2	1300	c.421C>G	c.(421-423)Ctt>Gtt	p.L141V	NRXN3_ENST00000428277.2_Missense_Mutation_p.L141V|NRXN3_ENST00000335750.5_Missense_Mutation_p.L773V|NRXN3_ENST00000557594.1_Missense_Mutation_p.L141V|NRXN3_ENST00000554719.1_Missense_Mutation_p.L773V|NRXN3_ENST00000556003.1_3'UTR	NM_138970.3	NP_620426.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	141	Laminin G-like.				angiogenesis|cell adhesion	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		CTTCCTCCAGCTTCACATAGT	0.522													5	36					0	0	0.014758	0	0	G	79933737	C	G	79933737	3	3	78	1	0	0	0	0	1	0	0	0	10715	797	28	4	2610	4	NRXN3	14	79933737	Missense_Mutation	SNP	C	TCGA-DU-5871-01A-12D-1705-08		79933737	27415803	25	3511											
RIN3	79890	broad.mit.edu	37	14	93118181	93118181	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-5871-01A-12D-1705-08	TCGA-DU-5871-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	284eb475-87a9-4787-8fb6-acbd64a5e192	ffbf073f-cbe7-420a-954f-b6b9c39a9bd8	g.chr14:93118181C>T	ENST00000216487.7	+	6	946	c.787C>T	c.(787-789)Ccg>Tcg	p.P263S	RIN3_ENST00000418924.2_3'UTR	NM_024832.3	NP_079108.3	Q8TB24	RIN3_HUMAN	Ras and Rab interactor 3	263	Pro-rich.				endocytosis|signal transduction	cytoplasmic membrane-bounded vesicle|early endosome	GTPase activator activity|Ras GTPase binding			endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36		all_cancers(154;0.0701)				ACGCCCTTTGCCGCCCACCTC	0.667													3	51					0	0	0.115264	0	0	T	93118181	C	T	93118181	3	4	78	1	0	0	0	0	1	0	0	0	13425	739	26	2	809	2	RIN3	14	93118181	Missense_Mutation	SNP	C	TCGA-DU-5871-01A-12D-1705-08	13184444	93118181	14231359	26	3512											
XYLT1	64131	broad.mit.edu	37	16	17228396	17228396	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-5871-01A-12D-1705-08	TCGA-DU-5871-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	284eb475-87a9-4787-8fb6-acbd64a5e192	ffbf073f-cbe7-420a-954f-b6b9c39a9bd8	g.chr16:17228396G>A	ENST00000261381.6	-	9	2045	c.1961C>T	c.(1960-1962)tCc>tTc	p.S654F	CTD-2576D5.4_ENST00000567344.1_RNA	NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	654					glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						GCGGGCAAAGGAGTGGTACAA	0.627													20	53					0	0	0.049695	0	0	A	17228396	G	A	17228396	3	1	78	1	0	0	0	0	1	0	0	0	17523	1174	41	2	934	2	XYLT1	16	17228396	Missense_Mutation	SNP	G	TCGA-DU-5871-01A-12D-1705-08		17228396	73126357	27	3513											
TP53	7157	broad.mit.edu	37	17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	rs121913343		TCGA-DU-5871-01A-12D-1705-08	TCGA-DU-5871-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	284eb475-87a9-4787-8fb6-acbd64a5e192	ffbf073f-cbe7-420a-954f-b6b9c39a9bd8	g.chr17:7577121G>A	ENST00000420246.2	-	8	949	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000269305.4_Missense_Mutation_p.R273C|TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000455263.2_Missense_Mutation_p.R273C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	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).		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.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			23	6					0	0	0.069288	0	0	A	7577121	G	A	7577121	3	1	78	1	0	0	0	0	1	0	0	0	16442	1087	38	1	469	1	TP53	17	7577121	Missense_Mutation	SNP	G	TCGA-DU-5871-01A-12D-1705-08		7577121	73618089	28	3514											
SLC6A4	6532	broad.mit.edu	37	17	28534827	28534827	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-5871-01A-12D-1705-08	TCGA-DU-5871-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	284eb475-87a9-4787-8fb6-acbd64a5e192	ffbf073f-cbe7-420a-954f-b6b9c39a9bd8	g.chr17:28534827C>T	ENST00000401766.2	-	12	2085	c.1573G>A	c.(1573-1575)Gtg>Atg	p.V525M	SLC6A4_ENST00000261707.3_Missense_Mutation_p.V525M			P31645	SC6A4_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 4	525					response to toxin|serotonin uptake|thalamus development	cytosol|endomembrane system|endosome membrane|membrane raft	actin filament binding|Rab GTPase binding|serotonin transmembrane transporter activity|serotonin:sodium symporter activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(4)	25					Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Doxepin(DB01142)|Duloxetine(DB00476)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Minaprine(DB00805)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phentermine(DB00191)|Protriptyline(DB00344)|Sertraline(DB01104)|Sibutramine(DB01105)|Tegaserod(DB01079)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Zimelidine(DB04832)	ATTTCCTTCACGTCCCTGCAG	0.582													3	16					0	0	0.115264	0	0	T	28534827	C	T	28534827	3	4	78	1	0	0	0	0	1	0	0	0	14741	536	19	1	331	1	SLC6A4	17	28534827	Missense_Mutation	SNP	C	TCGA-DU-5871-01A-12D-1705-08	20957706	28534827	52660383	29	3515											
FASN	2194	broad.mit.edu	37	17	80043423	80043423	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DU-5871-01A-12D-1705-08	TCGA-DU-5871-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	284eb475-87a9-4787-8fb6-acbd64a5e192	ffbf073f-cbe7-420a-954f-b6b9c39a9bd8	g.chr17:80043423delG	ENST00000306749.2	-	23	4275	c.4057delC	c.(4057-4059)ctcfs	p.L1353fs		NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	1353				LGDI -> SGH (in Ref. 2; AAA73576).	energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	cytosol|Golgi apparatus|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)	ATGTCCCCGAGGGGGTGCCCC	0.706													2	4	---	---	---	---						-	80043423	G	-	80043423	7	5	78	1	0	1	0	1	0	0	0	0	5716	1000	35	0	3562	0	FASN	17	80043423	Frame_Shift_Del	DEL	G	TCGA-DU-5871-01A-12D-1705-08	51508596	80043423	1151787	30	3516											
BSG	682	broad.mit.edu	37	19	578038	578038	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-5871-01A-12D-1705-08	TCGA-DU-5871-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	284eb475-87a9-4787-8fb6-acbd64a5e192	ffbf073f-cbe7-420a-954f-b6b9c39a9bd8	g.chr19:578038G>A	ENST00000333511.3	+	2	402	c.332G>A	c.(331-333)aGc>aAc	p.S111N	BSG_ENST00000545507.2_Intron|BSG_ENST00000353555.4_Intron|BSG_ENST00000346916.4_Intron|BSG_ENST00000574970.1_3'UTR	NM_001728.3	NP_001719.2	P35613	BASI_HUMAN	basigin	111					blood coagulation|cell surface receptor linked signaling pathway|leukocyte migration|pyruvate metabolic process	Golgi membrane|integral to membrane|melanosome	lactate transmembrane transporter activity|mannose binding|protein binding			central_nervous_system(1)|endometrium(3)|lung(1)	5		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)		TGCCGGGCCAGCAACGACCCG	0.682													12	8					0	0	0.09319	0	0	A	578038	G	A	578038	3	1	78	1	0	0	0	0	1	0	0	0	1531	971	34	2	374	2	BSG	19	578038	Missense_Mutation	SNP	G	TCGA-DU-5871-01A-12D-1705-08		578038	58550945	31	3517											
ZNF77	58492	broad.mit.edu	37	19	2933527	2933527	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-5871-01A-12D-1705-08	TCGA-DU-5871-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	284eb475-87a9-4787-8fb6-acbd64a5e192	ffbf073f-cbe7-420a-954f-b6b9c39a9bd8	g.chr19:2933527G>A	ENST00000314531.4	-	4	1690	c.1598C>T	c.(1597-1599)gCa>gTa	p.A533V		NM_021217.2	NP_067040.1	Q15935	ZNF77_HUMAN	zinc finger protein 77	533					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)	17				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)|GBM - Glioblastoma multiforme(1328;2.11e-07)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.174)|STAD - Stomach adenocarcinoma(1328;0.18)		TTGAAGCGATGCGAGATACCT	0.493													18	77					0	0	0.175082	0	0	A	2933527	G	A	2933527	3	1	78	1	0	0	0	0	1	0	0	0	18192	1319	46	2	43	2	ZNF77	19	2933527	Missense_Mutation	SNP	G	TCGA-DU-5871-01A-12D-1705-08	2355489	2933527	56195456	32	3518											
GIPC3	126326	broad.mit.edu	37	19	3589856	3589856	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-5871-01A-12D-1705-08	TCGA-DU-5871-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	284eb475-87a9-4787-8fb6-acbd64a5e192	ffbf073f-cbe7-420a-954f-b6b9c39a9bd8	g.chr19:3589856C>T	ENST00000322315.5	+	5	778	c.733C>T	c.(733-735)Cgg>Tgg	p.R245W		NM_133261.2	NP_573568.1	Q8TF64	GIPC3_HUMAN	GIPC PDZ domain containing family, member 3	245										breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	10				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0025)|STAD - Stomach adenocarcinoma(1328;0.18)		GGAGGCATCTCGGAAGGTTGA	0.657													15	86					0	0	0.043863	0	0	T	3589856	C	T	3589856	3	4	78	1	0	0	0	0	1	0	0	0	6436	875	31	1	751	1	GIPC3	19	3589856	Missense_Mutation	SNP	C	TCGA-DU-5871-01A-12D-1705-08	656329	3589856	55539127	33	3519											
NOTCH3	4854	broad.mit.edu	37	19	15276774	15276774	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-5871-01A-12D-1705-08	TCGA-DU-5871-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	284eb475-87a9-4787-8fb6-acbd64a5e192	ffbf073f-cbe7-420a-954f-b6b9c39a9bd8	g.chr19:15276774G>C	ENST00000263388.2	-	30	5566	c.5491C>G	c.(5491-5493)Ctt>Gtt	p.L1831V		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	1831					Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			CGTGCCCCAAGCTGAGCCCCC	0.612													4	32					0	0	0.014758	0	0	C	15276774	G	C	15276774	3	2	78	1	0	0	0	0	1	0	0	0	10597	971	34	4	1490	4	NOTCH3	19	15276774	Missense_Mutation	SNP	G	TCGA-DU-5871-01A-12D-1705-08	11686918	15276774	43852209	34	3520											
LILRB4	11006	broad.mit.edu	37	19	55178179	55178179	+	Silent	SNP	C	C	T	rs149652762	byFrequency	TCGA-DU-5871-01A-12D-1705-08	TCGA-DU-5871-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	284eb475-87a9-4787-8fb6-acbd64a5e192	ffbf073f-cbe7-420a-954f-b6b9c39a9bd8	g.chr19:55178179C>T	ENST00000391736.1	+	12	1335	c.1020C>T	c.(1018-1020)gaC>gaT	p.D340D	LILRB4_ENST00000270452.2_Silent_p.D340D|LILRB4_ENST00000391734.3_Silent_p.D340D|LILRB4_ENST00000430952.2_Silent_p.D340D|LILRB4_ENST00000391733.3_Silent_p.D341D	NM_001278426.2|NM_001278428.2|NM_001278429.2|NM_001278430.2	NP_001265355.1|NP_001265357.1|NP_001265358.1|NP_001265359.1	Q8NHJ6	LIRB4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4	340						integral to membrane|plasma membrane	antigen binding|receptor activity			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	39				GBM - Glioblastoma multiforme(193;0.035)		AGCCTGAGGACGGGGTGGAAA	0.607													48	51					0	0	0.139131	0	0	T	55178179	C	T	55178179	2	4	78	1	0	0	0	0	0	0	0	1	8833	535	19	1		1	LILRB4	19	55178179	Silent	SNP	C	TCGA-DU-5871-01A-12D-1705-08	39901405	55178179	3950804	35	3521											
LRRN4	164312	broad.mit.edu	37	20	6033166	6033166	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-5871-01A-12D-1705-08	TCGA-DU-5871-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	284eb475-87a9-4787-8fb6-acbd64a5e192	ffbf073f-cbe7-420a-954f-b6b9c39a9bd8	g.chr20:6033166C>T	ENST00000378858.4	-	2	504	c.280G>A	c.(280-282)Gag>Aag	p.E94K		NM_152611.4	NP_689824.2	Q8WUT4	LRRN4_HUMAN	leucine rich repeat neuronal 4	94						integral to membrane		p.E94K(1)		breast(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	27						TGGCCGAGCTCGGAAGTGCTC	0.741													3	9					0	0	0.115264	0	0	T	6033166	C	T	6033166	3	4	78	1	0	0	0	0	1	0	0	0	9082	893	31	1	1958	1	LRRN4	20	6033166	Missense_Mutation	SNP	C	TCGA-DU-5871-01A-12D-1705-08		6033166	56992354	36	3522											
RPRD1B	58490	broad.mit.edu	37	20	36694642	36694642	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-5871-01A-12D-1705-08	TCGA-DU-5871-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	284eb475-87a9-4787-8fb6-acbd64a5e192	ffbf073f-cbe7-420a-954f-b6b9c39a9bd8	g.chr20:36694642A>C	ENST00000373433.4	+	6	1217	c.815A>C	c.(814-816)aAg>aCg	p.K272T		NM_021215.3	NP_067038.1	Q9NQG5	RPR1B_HUMAN	regulation of nuclear pre-mRNA domain containing 1B	272										endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)	12						TTGTCGGAGAAGGAGAAAAAA	0.488													12	116					0	0	0.146539	0	0	C	36694642	A	C	36694642	3	2	78	1	0	0	0	0	1	0	0	0	13668	72	3	5	837	5	RPRD1B	20	36694642	Missense_Mutation	SNP	A	TCGA-DU-5871-01A-12D-1705-08	30661476	36694642	26330878	37	3523											
LAMA5	3911	broad.mit.edu	37	20	60897105	60897105	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-5871-01A-12D-1705-08	TCGA-DU-5871-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	284eb475-87a9-4787-8fb6-acbd64a5e192	ffbf073f-cbe7-420a-954f-b6b9c39a9bd8	g.chr20:60897105C>T	ENST00000252999.3	-	48	6532	c.6466G>A	c.(6466-6468)Ggg>Agg	p.G2156R		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	2156	Laminin EGF-like 22.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CCCACAGGCCCGCCTGGAACA	0.657													9	31					0	0	0.069234	0	0	T	60897105	C	T	60897105	3	4	78	1	0	0	0	0	1	0	0	0	8648	652	23	1	4753	1	LAMA5	20	60897105	Missense_Mutation	SNP	C	TCGA-DU-5871-01A-12D-1705-08	24202463	60897105	2128415	38	3524											
CBR3	874	broad.mit.edu	37	21	37518618	37518618	+	Silent	SNP	G	G	A			TCGA-DU-5871-01A-12D-1705-08	TCGA-DU-5871-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	284eb475-87a9-4787-8fb6-acbd64a5e192	ffbf073f-cbe7-420a-954f-b6b9c39a9bd8	g.chr21:37518618G>A	ENST00000290354.5	+	3	923	c.642G>A	c.(640-642)gaG>gaA	p.E214E	CBR3-AS1_ENST00000608690.1_RNA|CBR3-AS1_ENST00000608622.1_RNA|CBR3-AS1_ENST00000427491.1_RNA|CBR3-AS1_ENST00000453159.1_RNA|CBR3-AS1_ENST00000608632.1_RNA|CBR3-AS1_ENST00000608641.1_RNA|CBR3-AS1_ENST00000413862.1_RNA	NM_001236.3	NP_001227.1	O75828	CBR3_HUMAN	carbonyl reductase 3	214						cytosol|nucleus	carbonyl reductase (NADPH) activity|NADPH binding			kidney(1)|large_intestine(1)|lung(1)	3						GTCTGGATGAGAAGAGGAAAG	0.567													5	18					0	0	0.014758	0	0	A	37518618	G	A	37518618	2	1	78	1	0	0	0	0	0	0	0	1	2727	933	33	2		2	CBR3	21	37518618	Silent	SNP	G	TCGA-DU-5871-01A-12D-1705-08		37518618	10611277	39	3525											
ZRSR2	8233	broad.mit.edu	37	X	15827371	15827371	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-5871-01A-12D-1705-08	TCGA-DU-5871-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	284eb475-87a9-4787-8fb6-acbd64a5e192	ffbf073f-cbe7-420a-954f-b6b9c39a9bd8	g.chrX:15827371A>G	ENST00000307771.7	+	7	511	c.487A>G	c.(487-489)Aga>Gga	p.R163G		NM_005089.3	NP_005080.1	Q15696	U2AFM_HUMAN	zinc finger (CCCH type), RNA-binding motif and serine/arginine rich 2	163					spliceosome assembly	U12-type spliceosomal complex	nucleotide binding|pre-mRNA 3'-splice site binding|protein binding|zinc ion binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(38)|kidney(1)|large_intestine(2)|ovary(2)	48	Hepatocellular(33;0.183)					CGTGGATTTCAGAGTAATGGA	0.398			"F, S, Mis"		"MDS, CLL"								3	105					0	0	0.150653	0	0	G	15827371	A	G	15827371	3	3	78	1	0	0	0	0	1	0	0	0	18267	180	7	3	513	3	ZRSR2	23	15827371	Missense_Mutation	SNP	A	TCGA-DU-5871-01A-12D-1705-08		15827371	139443189	40	3526											
ATRX	546	broad.mit.edu	37	X	76940443	76940447	+	Frame_Shift_Del	DEL	TCCAT	TCCAT	-	rs45572441		TCGA-DU-5871-01A-12D-1705-08	TCGA-DU-5871-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	284eb475-87a9-4787-8fb6-acbd64a5e192	ffbf073f-cbe7-420a-954f-b6b9c39a9bd8	g.chrX:76940443_76940447delTCCAT	ENST00000373344.5	-	8	860_864	c.646_650delATGGA	c.(646-651)atggatfs	p.MD216fs	ATRX_ENST00000395603.3_Frame_Shift_Del_p.MD178fs|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	216	ADD.				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)	ACATTGTTCATCCATTCCATCTGAG	0.317			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						36	74	---	---	---	---						-	76940447	TCCAT	-	76940443	7	5	78	1	0	1	0	1	0	0	0	0	1206	1435	50	0	6940	0	ATRX	23	76940443	Frame_Shift_Del	DEL	TCCAT	TCGA-DU-5871-01A-12D-1705-08	61113072	76940443	78330117	41	3527											
ATP11C	286410	broad.mit.edu	37	X	138850563	138850563	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-5871-01A-12D-1705-08	TCGA-DU-5871-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	284eb475-87a9-4787-8fb6-acbd64a5e192	ffbf073f-cbe7-420a-954f-b6b9c39a9bd8	g.chrX:138850563T>A	ENST00000370557.1	-	20	3274	c.2247A>T	c.(2245-2247)ttA>ttT	p.L749F	ATP11C_ENST00000460773.1_5'UTR|ATP11C_ENST00000327569.3_Missense_Mutation_p.L752F|ATP11C_ENST00000370543.1_Missense_Mutation_p.L752F|ATP11C_ENST00000361648.2_Missense_Mutation_p.L752F|ATP11C_ENST00000359686.2_Missense_Mutation_p.L752F			Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C	752					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)					CATCTATGATTAATCCATATT	0.313													19	52					0	0	0.055883	0	0	A	138850563	T	A	138850563	3	1	78	1	0	0	0	0	1	0	0	0	1120	1751	61	5	1249	5	ATP11C	23	138850563	Missense_Mutation	SNP	T	TCGA-DU-5871-01A-12D-1705-08	61910120	138850563	16419997	42	3528											
FAM58A	92002	broad.mit.edu	37	X	152853848	152853848	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-5871-01A-12D-1705-08	TCGA-DU-5871-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	284eb475-87a9-4787-8fb6-acbd64a5e192	ffbf073f-cbe7-420a-954f-b6b9c39a9bd8	g.chrX:152853848T>A	ENST00000406277.2	-	7	818	c.716A>T	c.(715-717)tAt>tTt	p.Y239F	FAM58A_ENST00000370175.4_5'UTR	NM_001130997.1|NM_152274.3	NP_001124469.1|NP_689487.2	Q8N1B3	FA58A_HUMAN	family with sequence similarity 58, member A	241					regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent		protein kinase binding			endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(1)	6	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GTCCATGGTATAAATCTGAAT	0.483													28	125					0	0	0.163468	0	0	A	152853848	T	A	152853848	3	1	78	1	0	0	0	0	1	0	0	0	5625	1406	49	4	28	4	FAM58A	23	152853848	Missense_Mutation	SNP	T	TCGA-DU-5871-01A-12D-1705-08	14003285	152853848	2416712	43	3529											
RERE	473	broad.mit.edu	37	1	8421423	8421423	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-5872-01A-11D-1705-08	TCGA-DU-5872-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d597128b-776d-4925-908d-e5e1e4b18f8b	ded34f93-720b-42b6-8a5c-680d6beab0e7	g.chr1:8421423A>G	ENST00000337907.3	-	19	2778	c.2144T>C	c.(2143-2145)aTc>aCc	p.I715T	RERE_ENST00000400908.2_Missense_Mutation_p.I715T|RERE_ENST00000377464.1_Missense_Mutation_p.I447T|RERE_ENST00000476556.1_Missense_Mutation_p.I161T|RERE_ENST00000400907.2_Intron	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	715					multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		GGGGCTGGGGATGCTCGGGGA	0.627													22	29					0	0	0.083992	0	0	G	8421423	A	G	8421423	3	3	79	1	0	0	0	0	1	0	0	0	13283	333	12	3	2580	3	RERE	1	8421423	Missense_Mutation	SNP	A	TCGA-DU-5872-01A-11D-1705-08		8421423	240829198	1	3530											
TAS1R2	80834	broad.mit.edu	37	1	19166820	19166820	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-5872-01A-11D-1705-08	TCGA-DU-5872-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d597128b-776d-4925-908d-e5e1e4b18f8b	ded34f93-720b-42b6-8a5c-680d6beab0e7	g.chr1:19166820G>T	ENST00000375371.3	-	6	1814	c.1793C>A	c.(1792-1794)tCg>tAg	p.S598*		NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2	598					detection of chemical stimulus involved in sensory perception of sweet taste	plasma membrane	protein heterodimerization activity|taste receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	GCCCCCAGCCGAGCGAACTAT	0.647													26	42					5.61819e-17	6.12893e-17	0.108266	1	0	T	19166820	G	T	19166820	4	4	79	1	0	0	0	0	0	1	0	0	15620	1059	37	5	730	5	TAS1R2	1	19166820	Nonsense_Mutation	SNP	G	TCGA-DU-5872-01A-11D-1705-08	10745397	19166820	230083801	2	3531											
COL11A1	1301	broad.mit.edu	37	1	103380351	103380351	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-5872-01A-11D-1705-08	TCGA-DU-5872-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d597128b-776d-4925-908d-e5e1e4b18f8b	ded34f93-720b-42b6-8a5c-680d6beab0e7	g.chr1:103380351C>T	ENST00000358392.2	-	51	4186	c.3869G>A	c.(3868-3870)aGa>aAa	p.R1290K	COL11A1_ENST00000370096.3_Missense_Mutation_p.R1278K|COL11A1_ENST00000512756.1_Missense_Mutation_p.R1162K|COL11A1_ENST00000353414.4_Missense_Mutation_p.R1239K	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1278	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	p.R1278T(1)|p.R1290T(1)		NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TTTCTCTCCTCTTTCTCCTTT	0.453													12	20					0	0	0.080935	0	0	T	103380351	C	T	103380351	3	4	79	1	0	0	0	0	1	0	0	0	3690	913	32	2	1655	2	COL11A1	1	103380351	Missense_Mutation	SNP	C	TCGA-DU-5872-01A-11D-1705-08	84213531	103380351	145870270	3	3532											
PIAS3	10401	broad.mit.edu	37	1	145585437	145585437	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-5872-01A-11D-1705-08	TCGA-DU-5872-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d597128b-776d-4925-908d-e5e1e4b18f8b	ded34f93-720b-42b6-8a5c-680d6beab0e7	g.chr1:145585437C>G	ENST00000393045.2	+	14	1792	c.1702C>G	c.(1702-1704)Cac>Gac	p.H568D	PIAS3_ENST00000369298.1_Missense_Mutation_p.H533D	NM_006099.3	NP_006090.2	Q9Y6X2	PIAS3_HUMAN	protein inhibitor of activated STAT, 3	568					positive regulation of protein sumoylation|protein sumoylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	enzyme binding|nucleic acid binding|protein C-terminus binding|zinc ion binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)	28	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GACCCCTTCTCACTTTCTGGG	0.637													49	52					0	0	0.048971	0	0	G	145585437	C	G	145585437	3	3	79	1	0	0	0	0	1	0	0	0	11925	826	29	5	1756	5	PIAS3	1	145585437	Missense_Mutation	SNP	C	TCGA-DU-5872-01A-11D-1705-08	42205086	145585437	103665184	4	3533											
FAM161A	84140	broad.mit.edu	37	2	62067511	62067511	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-5872-01A-11D-1705-08	TCGA-DU-5872-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d597128b-776d-4925-908d-e5e1e4b18f8b	ded34f93-720b-42b6-8a5c-680d6beab0e7	g.chr2:62067511C>A	ENST00000404929.1	-	3	639	c.628G>T	c.(628-630)Gat>Tat	p.D210Y	FAM161A_ENST00000405894.3_Missense_Mutation_p.D210Y	NM_001201543.1	NP_001188472.1	Q3B820	F161A_HUMAN	family with sequence similarity 161, member A	210					response to stimulus|visual perception	centrosome				breast(1)|endometrium(5)|large_intestine(8)|lung(4)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						CGAATATAATCCTCAACACAA	0.408													67	108					4.67498e-28	5.21858e-28	0.048971	1	0	A	62067511	C	A	62067511	3	1	79	1	0	0	0	0	1	0	0	0	5502	855	30	5	1370	5	FAM161A	2	62067511	Missense_Mutation	SNP	C	TCGA-DU-5872-01A-11D-1705-08		62067511	181131862	5	3534											
BUB1	699	broad.mit.edu	37	2	111423902	111423902	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-5872-01A-11D-1705-08	TCGA-DU-5872-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d597128b-776d-4925-908d-e5e1e4b18f8b	ded34f93-720b-42b6-8a5c-680d6beab0e7	g.chr2:111423902T>C	ENST00000535254.1	-	8	902	c.835A>G	c.(835-837)Aag>Gag	p.K279E	BUB1_ENST00000409311.1_Missense_Mutation_p.K299E|BUB1_ENST00000302759.6_Missense_Mutation_p.K299E	NM_001278616.1	NP_001265545.1	O43683	BUB1_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase	299				MKRK -> IRHE (in Ref. 7; AAC39546).	apoptosis|cell division|chromosome segregation|interspecies interaction between organisms|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|regulation of sister chromatid cohesion	condensed chromosome kinetochore|cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			breast(3)|endometrium(8)|kidney(4)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|stomach(1)	45		Ovarian(717;0.0822)		BRCA - Breast invasive adenocarcinoma(221;0.0556)		TGATGCAACTTCTTATGAAGT	0.428													12	24					0	0	0.080935	0	0	C	111423902	T	C	111423902	3	2	79	1	0	0	0	0	1	0	0	0	1573	1792	62	3	2430	3	BUB1	2	111423902	Missense_Mutation	SNP	T	TCGA-DU-5872-01A-11D-1705-08	49356391	111423902	131775471	6	3535											
WDR33	55339	broad.mit.edu	37	2	128522748	128522748	+	Splice_Site	SNP	C	C	G			TCGA-DU-5872-01A-11D-1705-08	TCGA-DU-5872-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d597128b-776d-4925-908d-e5e1e4b18f8b	ded34f93-720b-42b6-8a5c-680d6beab0e7	g.chr2:128522748C>G	ENST00000322313.4	-	5	632	c.474G>C	c.(472-474)caG>caC	p.Q158H	WDR33_ENST00000393006.1_Splice_Site_p.Q158H|WDR33_ENST00000409658.3_Splice_Site_p.Q158H	NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33	158					postreplication repair|spermatogenesis	collagen|nucleus	protein binding			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		TTATCATTACCTGTAATATTG	0.398													13	13					0	0	0.09319	0	0	G	128522748	C	G	128522748	5	3	79	1	0	0	0	0	0	0	1	0	17347	695	24	4	4017	4	WDR33	2	128522748	Splice_Site	SNP	C	TCGA-DU-5872-01A-11D-1705-08	17098846	128522748	114676625	7	3536											
CPO	130749	broad.mit.edu	37	2	207814342	207814342	+	Splice_Site	SNP	T	T	C			TCGA-DU-5872-01A-11D-1705-08	TCGA-DU-5872-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d597128b-776d-4925-908d-e5e1e4b18f8b	ded34f93-720b-42b6-8a5c-680d6beab0e7	g.chr2:207814342T>C	ENST00000272852.3	+	2	116	c.70T>C	c.(70-72)Tcc>Ccc	p.S24P		NM_173077.2	NP_775100.1	Q8IVL8	CBPO_HUMAN	carboxypeptidase O	24					proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	14				LUSC - Lung squamous cell carcinoma(261;0.0744)|Epithelial(149;0.0807)|Lung(261;0.142)		CCTTTGCAGATCCTTAGCCCA	0.473													25	39					0	0	0.083992	0	0	C	207814342	T	C	207814342	5	2	79	1	0	0	0	0	0	0	1	0	3843	1449	50	3	76	3	CPO	2	207814342	Splice_Site	SNP	T	TCGA-DU-5872-01A-11D-1705-08	79291594	207814342	35385031	8	3537											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-DU-5872-01A-11D-1705-08	TCGA-DU-5872-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d597128b-776d-4925-908d-e5e1e4b18f8b	ded34f93-720b-42b6-8a5c-680d6beab0e7	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	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								29	42					0	0	0.037714	0	0	T	209113112	C	T	209113112	3	4	79	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-DU-5872-01A-11D-1705-08	1298770	209113112	34086261	9	3538											
SPP2	6694	broad.mit.edu	37	2	234969077	234969077	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-5872-01A-11D-1705-08	TCGA-DU-5872-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d597128b-776d-4925-908d-e5e1e4b18f8b	ded34f93-720b-42b6-8a5c-680d6beab0e7	g.chr2:234969077G>A	ENST00000168148.3	+	4	486	c.398G>A	c.(397-399)cGc>cAc	p.R133H	SPP2_ENST00000373368.1_Missense_Mutation_p.R133H	NM_006944.2	NP_008875.1	Q13103	SPP24_HUMAN	secreted phosphoprotein 2, 24kDa	133					bone remodeling|skeletal system development	extracellular region	endopeptidase inhibitor activity			breast(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)	12		Breast(86;0.0109)|Renal(207;0.019)|all_lung(227;0.13)|all_hematologic(139;0.182)		Epithelial(121;5.73e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000166)|Lung(119;0.00539)|LUSC - Lung squamous cell carcinoma(224;0.00846)		GTGCATGCTCGCTGCAGCTGG	0.577													19	34					0	0	0.062417	0	0	A	234969077	G	A	234969077	3	1	79	1	0	0	0	0	1	0	0	0	15143	1087	38	1	412	1	SPP2	2	234969077	Missense_Mutation	SNP	G	TCGA-DU-5872-01A-11D-1705-08	25855965	234969077	8230296	10	3539											
HDAC4	9759	broad.mit.edu	37	2	239976491	239976491	+	Silent	SNP	G	G	A			TCGA-DU-5872-01A-11D-1705-08	TCGA-DU-5872-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d597128b-776d-4925-908d-e5e1e4b18f8b	ded34f93-720b-42b6-8a5c-680d6beab0e7	g.chr2:239976491G>A	ENST00000345617.3	-	25	3818	c.3027C>T	c.(3025-3027)ccC>ccT	p.P1009P	HDAC4_ENST00000543185.1_Silent_p.P593P	NM_006037.3	NP_006028.2	P56524	HDAC4_HUMAN	histone deacetylase 4	1009	Histone deacetylase.				B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent	histone deacetylase complex|transcriptional repressor complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|potassium ion binding|repressing transcription factor binding|zinc ion binding			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		CGTTTGCATTGGGTCTTTGCT	0.507													34	58					0	0	0.064281	0	0	A	239976491	G	A	239976491	2	1	79	1	0	0	0	0	0	0	0	1	7050	1335	47	2		2	HDAC4	2	239976491	Silent	SNP	G	TCGA-DU-5872-01A-11D-1705-08	5007414	239976491	3222882	11	3540											
PROS1	5627	broad.mit.edu	37	3	93624931	93624931	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-5872-01A-11D-1705-08	TCGA-DU-5872-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d597128b-776d-4925-908d-e5e1e4b18f8b	ded34f93-720b-42b6-8a5c-680d6beab0e7	g.chr3:93624931T>C	ENST00000394236.3	-	5	719	c.403A>G	c.(403-405)Aaa>Gaa	p.K135E	PROS1_ENST00000407433.1_Missense_Mutation_p.K4E	NM_000313.3	NP_000304.2	P07225	PROS_HUMAN	protein S (alpha)	135	EGF-like 1.				leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis	endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|platelet alpha granule lumen	calcium ion binding|endopeptidase inhibitor activity			endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46					Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)	TTTCCATCTTTGCAGCTCATA	0.408													69	95					0	0	0.048971	0	0	C	93624931	T	C	93624931	3	2	79	1	0	0	0	0	1	0	0	0	12610	1821	63	3	1671	3	PROS1	3	93624931	Missense_Mutation	SNP	T	TCGA-DU-5872-01A-11D-1705-08		93624931	104397499	12	3541											
PLCH1	23007	broad.mit.edu	37	3	155200741	155200741	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-5872-01A-11D-1705-08	TCGA-DU-5872-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d597128b-776d-4925-908d-e5e1e4b18f8b	ded34f93-720b-42b6-8a5c-680d6beab0e7	g.chr3:155200741A>G	ENST00000460012.1	-	23	3341	c.2984T>C	c.(2983-2985)cTc>cCc	p.L995P	PLCH1_ENST00000414191.1_Missense_Mutation_p.L995P|PLCH1_ENST00000494598.1_Intron|PLCH1_ENST00000340059.7_Missense_Mutation_p.L1033P|PLCH1_ENST00000447496.2_3'UTR|PLCH1_ENST00000334686.6_Missense_Mutation_p.L995P			Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	1033					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			ATCTTTGTGGAGCAGAGCACT	0.453													28	52					0	0	0.099896	0	0	G	155200741	A	G	155200741	3	3	79	1	0	0	0	0	1	0	0	0	12085	304	11	3	1987	3	PLCH1	3	155200741	Missense_Mutation	SNP	A	TCGA-DU-5872-01A-11D-1705-08	61575810	155200741	42821689	13	3542											
SPATA16	83893	broad.mit.edu	37	3	172631478	172631478	+	Silent	SNP	A	A	G			TCGA-DU-5872-01A-11D-1705-08	TCGA-DU-5872-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d597128b-776d-4925-908d-e5e1e4b18f8b	ded34f93-720b-42b6-8a5c-680d6beab0e7	g.chr3:172631478A>G	ENST00000351008.3	-	10	1743	c.1560T>C	c.(1558-1560)aaT>aaC	p.N520N		NM_031955.5	NP_114161.3	Q9BXB7	SPT16_HUMAN	spermatogenesis associated 16	520					cell differentiation|multicellular organismal development|spermatogenesis	Golgi apparatus	binding			breast(2)|cervix(1)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	43	Ovarian(172;0.00319)|Breast(254;0.197)		LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)			ACACACGTTCATTATTGTTTC	0.373													21	36					0	0	0.083992	0	0	G	172631478	A	G	172631478	2	3	79	1	0	0	0	0	0	0	0	1	15057	214	8	3		3	SPATA16	3	172631478	Silent	SNP	A	TCGA-DU-5872-01A-11D-1705-08	17430737	172631478	25390952	14	3543											
SLC12A7	10723	broad.mit.edu	37	5	1088447	1088447	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-5872-01A-11D-1705-08	TCGA-DU-5872-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d597128b-776d-4925-908d-e5e1e4b18f8b	ded34f93-720b-42b6-8a5c-680d6beab0e7	g.chr5:1088447G>A	ENST00000264930.5	-	5	561	c.518C>T	c.(517-519)gCg>gTg	p.A173V		NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 7	173					potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	GGTAGCGATCGCACTCATGGA	0.592													3	3					0	0	0.009096	0	0	A	1088447	G	A	1088447	3	1	79	1	0	0	0	0	1	0	0	0	14443	1087	38	1	2813	1	SLC12A7	5	1088447	Missense_Mutation	SNP	G	TCGA-DU-5872-01A-11D-1705-08		1088447	179826813	15	3544											
ZNF451	26036	broad.mit.edu	37	6	57012701	57012701	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-5872-01A-11D-1705-08	TCGA-DU-5872-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d597128b-776d-4925-908d-e5e1e4b18f8b	ded34f93-720b-42b6-8a5c-680d6beab0e7	g.chr6:57012701G>A	ENST00000370706.4	+	10	2062	c.1818G>A	c.(1816-1818)tgG>tgA	p.W606*	RP11-203B9.4_ENST00000589549.1_RNA|RP11-203B9.4_ENST00000592038.1_RNA|RP11-203B9.4_ENST00000591553.1_RNA|RP11-203B9.4_ENST00000592500.1_RNA|RP11-203B9.4_ENST00000586432.1_RNA|RP11-203B9.4_ENST00000587815.1_RNA|ZNF451_ENST00000357489.3_Nonsense_Mutation_p.W606*|RP11-203B9.4_ENST00000586668.1_RNA|RP11-203B9.4_ENST00000585792.1_RNA|ZNF451_ENST00000491832.2_Nonsense_Mutation_p.W606*|RP11-203B9.4_ENST00000416069.2_RNA|RP11-203B9.4_ENST00000586053.1_RNA|RP11-203B9.4_ENST00000588811.1_RNA	NM_001031623.2	NP_001026794.1	Q9Y4E5	ZN451_HUMAN	zinc finger protein 451	606					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32	Lung NSC(77;0.145)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			GGGGTAAATGGCAATGCCGGA	0.418													40	59					0	0	0.092188	0	0	A	57012701	G	A	57012701	4	1	79	1	0	0	0	0	0	1	0	0	17979	1212	42	2	1856	2	ZNF451	6	57012701	Nonsense_Mutation	SNP	G	TCGA-DU-5872-01A-11D-1705-08		57012701	114102366	16	3545											
ZNRF2	223082	broad.mit.edu	37	7	30325442	30325442	+	Splice_Site	DEL	G	G	-			TCGA-DU-5872-01A-11D-1705-08	TCGA-DU-5872-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d597128b-776d-4925-908d-e5e1e4b18f8b	ded34f93-720b-42b6-8a5c-680d6beab0e7	g.chr7:30325442delG	ENST00000323037.4	+	1	1520	c.469delG	c.(469-471)gga>ga	p.G157fs	ZNRF2_ENST00000459998.1_3'UTR	NM_147128.3	NP_667339.1	Q8NHG8	ZNRF2_HUMAN	zinc and ring finger 2	157						cell junction|endosome membrane|lysosomal membrane|presynaptic membrane	ligase activity|zinc ion binding			breast(1)|endometrium(1)|lung(2)|prostate(1)	5						CATGTTTGGAGGTACGGACCC	0.726													2	4	---	---	---	---						-	30325442	G	-	30325442	8	5	79	1	0	1	0	1	0	0	1	0	18254	1014	35	0	471	0	ZNRF2	7	30325442	Splice_Site	DEL	G	TCGA-DU-5872-01A-11D-1705-08		30325442	128813221	17	3546											
COL1A2	1278	broad.mit.edu	37	7	94057712	94057712	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-5872-01A-11D-1705-08	TCGA-DU-5872-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d597128b-776d-4925-908d-e5e1e4b18f8b	ded34f93-720b-42b6-8a5c-680d6beab0e7	g.chr7:94057712C>T	ENST00000297268.6	+	50	4105	c.3634C>T	c.(3634-3636)Cca>Tca	p.P1212S		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	1212	Fibrillar collagen NC1.				axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	TGAAAACATCCCAGCCAAGAA	0.488										HNSCC(75;0.22)			34	98					0	0	0.054565	0	0	T	94057712	C	T	94057712	3	4	79	1	0	0	0	0	1	0	0	0	3701	623	22	2	3832	2	COL1A2	7	94057712	Missense_Mutation	SNP	C	TCGA-DU-5872-01A-11D-1705-08	63732270	94057712	65080951	18	3547											
TRRAP	8295	broad.mit.edu	37	7	98545941	98545941	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-5872-01A-11D-1705-08	TCGA-DU-5872-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d597128b-776d-4925-908d-e5e1e4b18f8b	ded34f93-720b-42b6-8a5c-680d6beab0e7	g.chr7:98545941C>T	ENST00000359863.4	+	33	4834	c.4625C>T	c.(4624-4626)aCg>aTg	p.T1542M	TRRAP_ENST00000446306.3_Missense_Mutation_p.T1523M|TRRAP_ENST00000355540.3_Missense_Mutation_p.T1524M	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	1542					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			GTCATGAAAACGGAGCGGGCG	0.498													32	77					0	0	0.045705	0	0	T	98545941	C	T	98545941	3	4	79	1	0	0	0	0	1	0	0	0	16662	536	19	1	4693	1	TRRAP	7	98545941	Missense_Mutation	SNP	C	TCGA-DU-5872-01A-11D-1705-08	4488229	98545941	60592722	19	3548											
CRYGN	155051	broad.mit.edu	37	7	151135095	151135095	+	Missense_Mutation	SNP	C	C	T	rs148445096		TCGA-DU-5872-01A-11D-1705-08	TCGA-DU-5872-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d597128b-776d-4925-908d-e5e1e4b18f8b	ded34f93-720b-42b6-8a5c-680d6beab0e7	g.chr7:151135095C>T	ENST00000337323.2	-	2	383	c.257G>A	c.(256-258)cGg>cAg	p.R86Q	RP4-555L14.4_ENST00000465549.1_RNA|CRYGN_ENST00000476631.1_5'UTR|CRYGN_ENST00000491928.1_Missense_Mutation_p.R86Q	NM_144727.1	NP_653328.1	Q8WXF5	CRGN_HUMAN	crystallin, gamma N	86	Beta/gamma crystallin 'Greek key' 2.									central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(1)|lung(4)	8			OV - Ovarian serous cystadenocarcinoma(82;0.00358)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TCCTACAGGCCGACAGGAGCC	0.627													25	28					0	0	0.099896	0	0	T	151135095	C	T	151135095	3	4	79	1	0	0	0	0	1	0	0	0	3941	652	23	1	303	1	CRYGN	7	151135095	Missense_Mutation	SNP	C	TCGA-DU-5872-01A-11D-1705-08	52589154	151135095	8003568	20	3549											
RORB	6096	broad.mit.edu	37	9	77257427	77257427	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-5872-01A-11D-1705-08	TCGA-DU-5872-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d597128b-776d-4925-908d-e5e1e4b18f8b	ded34f93-720b-42b6-8a5c-680d6beab0e7	g.chr9:77257427G>C	ENST00000376896.3	+	4	945	c.333G>C	c.(331-333)caG>caC	p.Q111H	RORB_ENST00000396204.2_Missense_Mutation_p.Q122H	NM_006914.3	NP_008845.2	Q92753	RORB_HUMAN	RAR-related orphan receptor B		Hinge (Potential).				eye photoreceptor cell development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|visual perception	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(2)|large_intestine(4)|lung(1)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	12						ggcagcagcagAGTGGGGAGG	0.592													11	36					0	0	0.09319	0	0	C	77257427	G	C	77257427	3	2	79	1	0	0	0	0	1	0	0	0	13581	933	33	4	347	4	RORB	9	77257427	Missense_Mutation	SNP	G	TCGA-DU-5872-01A-11D-1705-08		77257427	63956004	21	3550											
SETX	23064	broad.mit.edu	37	9	135205145	135205145	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-5872-01A-11D-1705-08	TCGA-DU-5872-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d597128b-776d-4925-908d-e5e1e4b18f8b	ded34f93-720b-42b6-8a5c-680d6beab0e7	g.chr9:135205145T>C	ENST00000372169.2	-	10	2022	c.1840A>G	c.(1840-1842)Atc>Gtc	p.I614V	SETX_ENST00000393220.1_Missense_Mutation_p.I614V|SETX_ENST00000224140.5_Missense_Mutation_p.I614V			Q7Z333	SETX_HUMAN	senataxin	614					cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		GCAGGAGAGATTTTACATGCA	0.353													28	34					0	0	0.034045	0	0	C	135205145	T	C	135205145	3	2	79	1	0	0	0	0	1	0	0	0	14195	1493	52	3	6261	3	SETX	9	135205145	Missense_Mutation	SNP	T	TCGA-DU-5872-01A-11D-1705-08	57947718	135205145	6008286	22	3551											
SLC22A11	55867	broad.mit.edu	37	11	64323648	64323648	+	Silent	SNP	G	G	A			TCGA-DU-5872-01A-11D-1705-08	TCGA-DU-5872-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d597128b-776d-4925-908d-e5e1e4b18f8b	ded34f93-720b-42b6-8a5c-680d6beab0e7	g.chr11:64323648G>A	ENST00000301891.4	+	1	551	c.177G>A	c.(175-177)gcG>gcA	p.A59A	SLC22A11_ENST00000377585.3_Silent_p.A59A|SLC22A11_ENST00000490834.1_3'UTR|SLC22A11_ENST00000377581.3_Silent_p.A59A	NM_018484.2	NP_060954.1	Q9NSA0	S22AB_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 11	59					urate metabolic process	apical plasma membrane|external side of plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium-independent organic anion transmembrane transporter activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23					Probenecid(DB01032)	ATGGCTCTGCGGTTTCCACAA	0.627											OREG0004031	type=REGULATORY REGION|Gene=SLC22A11|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	5	154					0	0	0.014758	0	0	A	64323648	G	A	64323648	2	1	79	1	0	0	0	0	0	0	0	1	14497	1103	39	1		1	SLC22A11	11	64323648	Silent	SNP	G	TCGA-DU-5872-01A-11D-1705-08		64323648	70682868	23	3552											
PRICKLE1	144165	broad.mit.edu	37	12	42858963	42858963	+	Silent	SNP	A	A	G			TCGA-DU-5872-01A-11D-1705-08	TCGA-DU-5872-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d597128b-776d-4925-908d-e5e1e4b18f8b	ded34f93-720b-42b6-8a5c-680d6beab0e7	g.chr12:42858963A>G	ENST00000455697.1	-	7	1158	c.873T>C	c.(871-873)tgT>tgC	p.C291C	PRICKLE1_ENST00000445766.2_Silent_p.C291C|PRICKLE1_ENST00000548696.1_Silent_p.C291C|RP11-328C8.4_ENST00000547824.1_RNA|PRICKLE1_ENST00000345127.3_Silent_p.C291C|PRICKLE1_ENST00000552240.1_Silent_p.C291C	NM_001144882.1|NM_001144883.1	NP_001138354.1|NP_001138355.1	Q96MT3	PRIC1_HUMAN	prickle homolog 1 (Drosophila)	291	LIM zinc-binding 3.				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein import into nucleus	cytosol|nuclear membrane	zinc ion binding	p.C291C(1)		NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(13)|ovary(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	47	all_cancers(12;4.25e-05)|Breast(8;0.176)			GBM - Glioblastoma multiforme(48;0.2)		GAAGGAAGGGACATCCCAACA	0.522													19	26					0	0	0.038395	0	0	G	42858963	A	G	42858963	2	3	79	1	0	0	0	0	0	0	0	1	12538	273	10	3		3	PRICKLE1	12	42858963	Silent	SNP	A	TCGA-DU-5872-01A-11D-1705-08		42858963	90992932	24	3553											
TUBA3C	7278	broad.mit.edu	37	13	19751332	19751332	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-5872-01A-11D-1705-08	TCGA-DU-5872-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d597128b-776d-4925-908d-e5e1e4b18f8b	ded34f93-720b-42b6-8a5c-680d6beab0e7	g.chr13:19751332C>T	ENST00000400113.3	-	4	895	c.791G>A	c.(790-792)cGc>cAc	p.R264H		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	264					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	p.R264H(1)		NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		GAAGTGGATGCGGGGGTACGG	0.612													4	97					0	0	0.014758	0	0	T	19751332	C	T	19751332	3	4	79	1	0	0	0	0	1	0	0	0	16808	768	27	1	569	1	TUBA3C	13	19751332	Missense_Mutation	SNP	C	TCGA-DU-5872-01A-11D-1705-08		19751332	95418546	25	3554											
HERC2	8924	broad.mit.edu	37	15	28483803	28483803	+	Silent	SNP	C	C	T			TCGA-DU-5872-01A-11D-1705-08	TCGA-DU-5872-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d597128b-776d-4925-908d-e5e1e4b18f8b	ded34f93-720b-42b6-8a5c-680d6beab0e7	g.chr15:28483803C>T	ENST00000261609.7	-	24	3801	c.3693G>A	c.(3691-3693)aaG>aaA	p.K1231K		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	1231	Cytochrome b5 heme-binding.				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		TATCATACACCTTCCCGTCAA	0.373													3	50					0	0	0.038147	0	0	T	28483803	C	T	28483803	2	4	79	1	0	0	0	0	0	0	0	1	7099	680	24	2		2	HERC2	15	28483803	Silent	SNP	C	TCGA-DU-5872-01A-11D-1705-08		28483803	74047589	26	3555											
BAIAP3	8938	broad.mit.edu	37	16	1391143	1391143	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-5872-01A-11D-1705-08	TCGA-DU-5872-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d597128b-776d-4925-908d-e5e1e4b18f8b	ded34f93-720b-42b6-8a5c-680d6beab0e7	g.chr16:1391143C>T	ENST00000324385.5	+	7	745	c.587C>T	c.(586-588)gCc>gTc	p.A196V	BAIAP3_ENST00000568887.1_Missense_Mutation_p.A133V|BAIAP3_ENST00000562208.1_Missense_Mutation_p.A138V|BAIAP3_ENST00000397488.2_Missense_Mutation_p.A178V|BAIAP3_ENST00000426824.3_Missense_Mutation_p.A161V|BAIAP3_ENST00000421665.2_Missense_Mutation_p.A161V|BAIAP3_ENST00000397489.1_Missense_Mutation_p.A178V	NM_003933.4	NP_003924.2	O94812	BAIP3_HUMAN	BAI1-associated protein 3	196	C2 1.				G-protein coupled receptor protein signaling pathway|neurotransmitter secretion		protein C-terminus binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(25)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42		Hepatocellular(780;0.0893)				CCCACGTATGCCCTGAAAGTC	0.672													3	35					0	0	0.004672	0	0	T	1391143	C	T	1391143	3	4	79	1	0	0	0	0	1	0	0	0	1302	739	26	2	613	2	BAIAP3	16	1391143	Missense_Mutation	SNP	C	TCGA-DU-5872-01A-11D-1705-08		1391143	88963610	27	3556											
TP53	7157	broad.mit.edu	37	17	7578394	7578394	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-5872-01A-11D-1705-08	TCGA-DU-5872-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d597128b-776d-4925-908d-e5e1e4b18f8b	ded34f93-720b-42b6-8a5c-680d6beab0e7	g.chr17:7578394T>C	ENST00000420246.2	-	5	668	c.536A>G	c.(535-537)cAt>cGt	p.H179R	TP53_ENST00000455263.2_Missense_Mutation_p.H179R|TP53_ENST00000269305.4_Missense_Mutation_p.H179R|TP53_ENST00000359597.4_Missense_Mutation_p.H179R|TP53_ENST00000413465.2_Missense_Mutation_p.H179R|TP53_ENST00000445888.2_Missense_Mutation_p.H179R|TP53_ENST00000574684.1_5'UTR	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	179	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).|HH -> QS (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.H179R(108)|p.H179L(43)|p.P177_C182delPHHERC(8)|p.0?(8)|p.H47L(4)|p.H86L(4)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H179P(3)|p.H178_S183delHHERCS(3)|p.R175_E180delRCPHHE(3)|p.P177fs*3(2)|p.V173fs*59(2)|p.H86R(2)|p.H47R(2)|p.R174fs*1(2)|p.H179fs*68(1)|p.C176fs*65(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H46_S51delHHERCS(1)|p.H178fs*6(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.H85_S90delHHERCS(1)|p.E171fs*1(1)|p.R174fs*3(1)|p.E171fs*61(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)		GCAGCGCTCATGGTGGGGGCA	0.642		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)			40	10					0	0	0.045515	0	0	C	7578394	T	C	7578394	3	2	79	1	0	0	0	0	1	0	0	0	16442	1464	51	3	762	3	TP53	17	7578394	Missense_Mutation	SNP	T	TCGA-DU-5872-01A-11D-1705-08		7578394	73616816	28	3557											
MYH1	4619	broad.mit.edu	37	17	10419569	10419569	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-5872-01A-11D-1705-08	TCGA-DU-5872-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d597128b-776d-4925-908d-e5e1e4b18f8b	ded34f93-720b-42b6-8a5c-680d6beab0e7	g.chr17:10419569C>T	ENST00000226207.5	-	4	389	c.295G>A	c.(295-297)Gag>Aag	p.E99K	RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	99	Myosin head-like.					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						ACAGCAGGCTCGTGTAGATGA	0.473													6	136					0	0	0.02938	0	0	T	10419569	C	T	10419569	3	4	79	1	0	0	0	0	1	0	0	0	10077	893	31	1	5672	1	MYH1	17	10419569	Missense_Mutation	SNP	C	TCGA-DU-5872-01A-11D-1705-08	2841175	10419569	70775641	29	3558											
PSMD12	5718	broad.mit.edu	37	17	65341917	65341917	+	Silent	SNP	T	T	A			TCGA-DU-5872-01A-11D-1705-08	TCGA-DU-5872-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d597128b-776d-4925-908d-e5e1e4b18f8b	ded34f93-720b-42b6-8a5c-680d6beab0e7	g.chr17:65341917T>A	ENST00000356126.3	-	8	959	c.852A>T	c.(850-852)tcA>tcT	p.S284S	PSMD12_ENST00000357146.4_Silent_p.S264S	NM_002816.3	NP_002807.1	O00232	PSD12_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 12	284	PCI.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	protein binding			breast(1)|large_intestine(4)|lung(6)|pancreas(1)|urinary_tract(1)	13	all_cancers(12;2.38e-11)|all_epithelial(3;8.27e-13)					GAACCAAATCTGACTGTTCAT	0.358													21	30					0	0	0.0918	0	0	A	65341917	T	A	65341917	2	1	79	1	0	0	0	0	0	0	0	1	12744	1567	55	5		5	PSMD12	17	65341917	Silent	SNP	T	TCGA-DU-5872-01A-11D-1705-08	54922348	65341917	15853293	30	3559											
LAMA3	3909	broad.mit.edu	37	18	21425086	21425086	+	Silent	SNP	T	T	G			TCGA-DU-5872-01A-11D-1705-08	TCGA-DU-5872-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d597128b-776d-4925-908d-e5e1e4b18f8b	ded34f93-720b-42b6-8a5c-680d6beab0e7	g.chr18:21425086T>G	ENST00000313654.9	+	30	3958	c.3717T>G	c.(3715-3717)ctT>ctG	p.L1239L	LAMA3_ENST00000399516.3_Silent_p.L1239L	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	1239	Domain IV 1 (domain IV B).				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GCTTTTACCTTGAGTGAGTAT	0.493													16	17					0	0	0.024245	0	0	G	21425086	T	G	21425086	2	3	79	1	0	0	0	0	0	0	0	1	8646	1799	63	5		5	LAMA3	18	21425086	Silent	SNP	T	TCGA-DU-5872-01A-11D-1705-08		21425086	56652162	31	3560											
AKAP4	8852	broad.mit.edu	37	X	49957597	49957597	+	Silent	SNP	A	A	G			TCGA-DU-5872-01A-11D-1705-08	TCGA-DU-5872-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d597128b-776d-4925-908d-e5e1e4b18f8b	ded34f93-720b-42b6-8a5c-680d6beab0e7	g.chrX:49957597A>G	ENST00000376056.2	-	5	1890	c.1740T>C	c.(1738-1740)ggT>ggC	p.G580G	AKAP4_ENST00000376064.3_Silent_p.G580G|AKAP4_ENST00000481402.1_5'UTR|AKAP4_ENST00000376058.2_Silent_p.G206G|AKAP4_ENST00000358526.2_Silent_p.G589G			Q5JQC9	AKAP4_HUMAN	A kinase (PRKA) anchor protein 4	589					cell projection organization|single fertilization|sperm motility	cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum	protein kinase A binding			NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41	Ovarian(276;0.236)					CACTTTGGCCACCTCCACACT	0.488													28	64					0	0	0.054565	0	0	G	49957597	A	G	49957597	2	3	79	1	0	0	0	0	0	0	0	1	450	146	6	3		3	AKAP4	23	49957597	Silent	SNP	A	TCGA-DU-5872-01A-11D-1705-08		49957597	105312963	32	3561											
ATRX	546	broad.mit.edu	37	X	76813106	76813106	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-5872-01A-11D-1705-08	TCGA-DU-5872-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d597128b-776d-4925-908d-e5e1e4b18f8b	ded34f93-720b-42b6-8a5c-680d6beab0e7	g.chrX:76813106T>G	ENST00000373344.5	-	30	6729	c.6515A>C	c.(6514-6516)gAa>gCa	p.E2172A	ATRX_ENST00000395603.3_Missense_Mutation_p.E2134A|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	2172	Helicase C-terminal.				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)	AATCTTATCTTCCATGGTTCC	0.338			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						34	64					0	0	0.054565	0	0	G	76813106	T	G	76813106	3	3	79	1	0	0	0	0	1	0	0	0	1206	1783	62	5	987	5	ATRX	23	76813106	Missense_Mutation	SNP	T	TCGA-DU-5872-01A-11D-1705-08	26855509	76813106	78457454	33	3562											
CCDC160	347475	broad.mit.edu	37	X	133379653	133379653	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-5872-01A-11D-1705-08	TCGA-DU-5872-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d597128b-776d-4925-908d-e5e1e4b18f8b	ded34f93-720b-42b6-8a5c-680d6beab0e7	g.chrX:133379653C>T	ENST00000517294.1	+	3	1206	c.823C>T	c.(823-825)Cgc>Tgc	p.R275C	CCDC160_ENST00000370809.4_Missense_Mutation_p.R275C			A6NGH7	CC160_HUMAN	coiled-coil domain containing 160	275										endometrium(1)|kidney(2)|large_intestine(10)|lung(2)|prostate(1)|skin(1)	17						GGCAAAGATCCGCGGAGAGCT	0.383													9	12					0	0	0.047766	0	0	T	133379653	C	T	133379653	3	4	79	1	0	0	0	0	1	0	0	0	2811	652	23	1	825	1	CCDC160	23	133379653	Missense_Mutation	SNP	C	TCGA-DU-5872-01A-11D-1705-08	56566547	133379653	21890907	34	3563											
PLXNA3	55558	broad.mit.edu	37	X	153688767	153688767	+	Missense_Mutation	SNP	A	A	G	rs142949704		TCGA-DU-5872-01A-11D-1705-08	TCGA-DU-5872-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d597128b-776d-4925-908d-e5e1e4b18f8b	ded34f93-720b-42b6-8a5c-680d6beab0e7	g.chrX:153688767A>G	ENST00000369682.3	+	2	419	c.244A>G	c.(244-246)Agc>Ggc	p.S82G		NM_017514.3	NP_059984.3	P51805	PLXA3_HUMAN	plexin A3	82	Sema.				axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CCCGCCCCCCAGCATGCGCGT	0.672													9	15					0	0	0.058154	0	0	G	153688767	A	G	153688767	3	3	79	1	0	0	0	0	1	0	0	0	12169	188	7	3	246	3	PLXNA3	23	153688767	Missense_Mutation	SNP	A	TCGA-DU-5872-01A-11D-1705-08	20309114	153688767	1581793	35	3564											
ZMYM6	9204	broad.mit.edu	37	1	35496240	35496240	+	Translation_Start_Site	SNP	T	T	C			TCGA-DU-5874-01A-11D-1705-08	TCGA-DU-5874-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85d915b8-0184-4ec7-93ad-e9ffa2f5743b	0b75be09-bdd0-435e-84ad-0624c781a430	g.chr1:35496240T>C	ENST00000357182.4	-	2	228	c.1A>G	c.(1-3)Atg>Gtg	p.M1V	ZMYM6_ENST00000373333.1_Start_Codon_SNP_p.M1V|ZMYM6_ENST00000373340.2_Start_Codon_SNP_p.M1V|ZMYM6_ENST00000487874.1_Start_Codon_SNP_p.M1V|ZMYM6_ENST00000317538.5_Start_Codon_SNP_p.M1V|ZMYM6_ENST00000493328.1_5'UTR	NM_007167.3	NP_009098.3	O95789	ZMYM6_HUMAN	zinc finger, MYM-type 6	1					multicellular organismal development	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(10)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	44		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13)				GGTTCTTTCATTCTAATTTTT	0.388													39	6					0	0	1	0	0	C	35496240	T	C	35496240	1	2	80	1	0	0	0	0	0	0	0	0	17762	1493	52	3		3	ZMYM6	1	35496240	Translation_Start_Site	SNP	T	TCGA-DU-5874-01A-11D-1705-08		35496240	213754381	1	3565											
SH2D2A	9047	broad.mit.edu	37	1	156785835	156785835	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-5874-01A-11D-1705-08	TCGA-DU-5874-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85d915b8-0184-4ec7-93ad-e9ffa2f5743b	0b75be09-bdd0-435e-84ad-0624c781a430	g.chr1:156785835A>G	ENST00000392306.2	-	2	225	c.86T>C	c.(85-87)aTg>aCg	p.M29T	SH2D2A_ENST00000368198.3_Missense_Mutation_p.M11T|SH2D2A_ENST00000368199.3_Missense_Mutation_p.M29T|NTRK1_ENST00000392302.2_Intron|SH2D2A_ENST00000495306.1_5'UTR	NM_001161441.1	NP_001154913.1	Q9NP31	SH22A_HUMAN	SH2 domain containing 2A	29					angiogenesis|cell differentiation|signal transduction	cytoplasm|soluble fraction	SH3 domain binding|SH3/SH2 adaptor activity			endometrium(1)|large_intestine(2)|lung(15)	18	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CCTGCGGGTCATGTCTGTGAT	0.612													13	8					0	0	1	0	0	G	156785835	A	G	156785835	3	3	80	1	0	0	0	0	1	0	0	0	14286	217	8	3	1141	3	SH2D2A	1	156785835	Missense_Mutation	SNP	A	TCGA-DU-5874-01A-11D-1705-08	121289595	156785835	92464786	2	3566											
C1orf106	55765	broad.mit.edu	37	1	200880752	200880752	+	Silent	SNP	C	C	T			TCGA-DU-5874-01A-11D-1705-08	TCGA-DU-5874-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85d915b8-0184-4ec7-93ad-e9ffa2f5743b	0b75be09-bdd0-435e-84ad-0624c781a430	g.chr1:200880752C>T	ENST00000367342.4	+	9	1586	c.1386C>T	c.(1384-1386)tcC>tcT	p.S462S	C1orf106_ENST00000413687.2_Silent_p.S377S	NM_018265.3	NP_060735.3	Q3KP66	CA106_HUMAN	chromosome 1 open reading frame 106	462										endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(2)	21						CTGACGTCTCCAGCATCTCCC	0.667													49	72					0	0	1	0	0	T	200880752	C	T	200880752	2	4	80	1	0	0	0	0	0	0	0	1	1993	581	21	2		2	C1orf106	1	200880752	Silent	SNP	C	TCGA-DU-5874-01A-11D-1705-08	44094917	200880752	48369869	3	3567											
SIPA1L2	57568	broad.mit.edu	37	1	232626742	232626742	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-5874-01A-11D-1705-08	TCGA-DU-5874-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85d915b8-0184-4ec7-93ad-e9ffa2f5743b	0b75be09-bdd0-435e-84ad-0624c781a430	g.chr1:232626742G>A	ENST00000366630.1	-	4	2042	c.1684C>T	c.(1684-1686)Cga>Tga	p.R562*	SIPA1L2_ENST00000486472.1_5'UTR|SIPA1L2_ENST00000262861.4_Nonsense_Mutation_p.R562*			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	562					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				GGTAGTCCTCGTGCGGTACCA	0.458													10	39					0	0	1	0	0	A	232626742	G	A	232626742	4	1	80	1	0	0	0	0	0	1	0	0	14385	1153	40	1	3560	1	SIPA1L2	1	232626742	Nonsense_Mutation	SNP	G	TCGA-DU-5874-01A-11D-1705-08	31745990	232626742	16623879	4	3568											
OR1C1	26188	broad.mit.edu	37	1	247921335	247921335	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-5874-01A-11D-1705-08	TCGA-DU-5874-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85d915b8-0184-4ec7-93ad-e9ffa2f5743b	0b75be09-bdd0-435e-84ad-0624c781a430	g.chr1:247921335G>A	ENST00000408896.2	-	1	647	c.374C>T	c.(373-375)gCg>gTg	p.A125V		NM_012353.2	NP_036485.2	Q15619	OR1C1_HUMAN	olfactory receptor, family 1, subfamily C, member 1	125					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A125V(1)		central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(32)|skin(2)|upper_aerodigestive_tract(1)	46	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	OV - Ovarian serous cystadenocarcinoma(106;0.0168)			GTGGCAAATCGCCACATATCT	0.502													25	19					0	0	1	0	0	A	247921335	G	A	247921335	3	1	80	1	0	0	0	0	1	0	0	0	11000	1087	38	1	572	1	OR1C1	1	247921335	Missense_Mutation	SNP	G	TCGA-DU-5874-01A-11D-1705-08	15294593	247921335	1329286	5	3569											
CYP26B1	56603	broad.mit.edu	37	2	72360210	72360210	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-5874-01A-11D-1705-08	TCGA-DU-5874-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85d915b8-0184-4ec7-93ad-e9ffa2f5743b	0b75be09-bdd0-435e-84ad-0624c781a430	g.chr2:72360210C>T	ENST00000001146.2	-	5	1291	c.1088G>A	c.(1087-1089)cGc>cAc	p.R363H	CYP26B1_ENST00000546307.1_Missense_Mutation_p.R288H|CYP26B1_ENST00000412253.1_Missense_Mutation_p.R172H	NM_001277742.1|NM_019885.2	NP_001264671.1|NP_063938.1	Q9NR63	CP26B_HUMAN	cytochrome P450, family 26, subfamily B, polypeptide 1	363					cell fate determination|embryonic limb morphogenesis|male meiosis|negative regulation of retinoic acid receptor signaling pathway|proximal/distal pattern formation|retinoic acid catabolic process|spermatogenesis|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding			breast(1)|kidney(3)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)	28						CGTGAACAGGCGCATGACCTC	0.677													15	20					0	0	1	0	0	T	72360210	C	T	72360210	3	4	80	1	0	0	0	0	1	0	0	0	4179	768	27	1	458	1	CYP26B1	2	72360210	Missense_Mutation	SNP	C	TCGA-DU-5874-01A-11D-1705-08		72360210	170839163	6	3570											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-DU-5874-01A-11D-1705-08	TCGA-DU-5874-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85d915b8-0184-4ec7-93ad-e9ffa2f5743b	0b75be09-bdd0-435e-84ad-0624c781a430	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	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								21	38					0	0	1	0	0	T	209113112	C	T	209113112	3	4	80	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-DU-5874-01A-11D-1705-08	136752902	209113112	34086261	7	3571											
SLC6A6	6533	broad.mit.edu	37	3	14508027	14508027	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-5874-01A-11D-1705-08	TCGA-DU-5874-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85d915b8-0184-4ec7-93ad-e9ffa2f5743b	0b75be09-bdd0-435e-84ad-0624c781a430	g.chr3:14508027G>A	ENST00000454876.2	+	7	1065	c.736G>A	c.(736-738)Gtc>Atc	p.V246I	SLC6A6_ENST00000360861.3_Missense_Mutation_p.V246I			P31641	SC6A6_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 6	246					cellular amino acid metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity|taurine:sodium symporter activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)	28						CTTGCAGGTCGTCTACTTCAC	0.602													27	41					0	0	1	0	0	A	14508027	G	A	14508027	3	1	80	1	0	0	0	0	1	0	0	0	14743	1145	40	1	758	1	SLC6A6	3	14508027	Missense_Mutation	SNP	G	TCGA-DU-5874-01A-11D-1705-08		14508027	183514403	8	3572											
ZNF197	10168	broad.mit.edu	37	3	44683423	44683423	+	Silent	SNP	G	G	A			TCGA-DU-5874-01A-11D-1705-08	TCGA-DU-5874-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85d915b8-0184-4ec7-93ad-e9ffa2f5743b	0b75be09-bdd0-435e-84ad-0624c781a430	g.chr3:44683423G>A	ENST00000396058.1	+	5	968	c.801G>A	c.(799-801)gtG>gtA	p.V267V	ZNF197_ENST00000383745.2_Intron|ZNF197_ENST00000383744.4_Intron|RP11-944L7.4_ENST00000457331.1_RNA|ZNF197_ENST00000344387.4_Silent_p.V267V			O14709	ZN197_HUMAN	zinc finger protein 197	267	KRAB.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)	25				KIRC - Kidney renal clear cell carcinoma(197;0.0478)|Kidney(197;0.0598)		ATGAGGAGGTGACATCAAAGC	0.413													4	13					0	0	1	0	0	A	44683423	G	A	44683423	2	1	80	1	0	0	0	0	0	0	0	1	17817	1277	45	2		2	ZNF197	3	44683423	Silent	SNP	G	TCGA-DU-5874-01A-11D-1705-08	30175396	44683423	153339007	9	3573											
KIAA1257	57501	broad.mit.edu	37	3	128706646	128706646	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-5874-01A-11D-1705-08	TCGA-DU-5874-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85d915b8-0184-4ec7-93ad-e9ffa2f5743b	0b75be09-bdd0-435e-84ad-0624c781a430	g.chr3:128706646G>T	ENST00000265068.5	-	4	647	c.480C>A	c.(478-480)gaC>gaA	p.D160E	KIAA1257_ENST00000511438.1_Missense_Mutation_p.D160E|KIAA1257_ENST00000510149.1_5'UTR|KIAA1257_ENST00000515659.1_Missense_Mutation_p.D48E	NM_020741.2	NP_065792.1	Q9ULG3	K1257_HUMAN	KIAA1257	160										breast(1)|endometrium(2)|large_intestine(3)|lung(6)|skin(2)	14						CCCAGGCTTTGTCACCTTCGT	0.453													9	10					3.09899e-07	3.14326e-07	1	1	0	T	128706646	G	T	128706646	3	4	80	1	0	0	0	0	1	0	0	0	8260	1368	48	5	769	5	KIAA1257	3	128706646	Missense_Mutation	SNP	G	TCGA-DU-5874-01A-11D-1705-08	84023223	128706646	69315784	10	3574											
ATP10D	57205	broad.mit.edu	37	4	47556756	47556756	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-5874-01A-11D-1705-08	TCGA-DU-5874-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85d915b8-0184-4ec7-93ad-e9ffa2f5743b	0b75be09-bdd0-435e-84ad-0624c781a430	g.chr4:47556756T>C	ENST00000273859.3	+	11	1918	c.1649T>C	c.(1648-1650)gTa>gCa	p.V550A		NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	550					ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						ACAGACGTGGTACCAGACACC	0.363													25	33					0	0	1	0	0	C	47556756	T	C	47556756	3	2	80	1	0	0	0	0	1	0	0	0	1117	1638	57	3	1687	3	ATP10D	4	47556756	Missense_Mutation	SNP	T	TCGA-DU-5874-01A-11D-1705-08		47556756	143597520	11	3575											
SLC6A19	340024	broad.mit.edu	37	5	1216915	1216915	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DU-5874-01A-11D-1705-08	TCGA-DU-5874-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85d915b8-0184-4ec7-93ad-e9ffa2f5743b	0b75be09-bdd0-435e-84ad-0624c781a430	g.chr5:1216915delC	ENST00000304460.10	+	8	1084	c.1028delC	c.(1027-1029)accfs	p.T343fs		NM_001003841.2	NP_001003841.1	Q695T7	S6A19_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 19	343					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	p.T343I(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			AACATCCTGACCCTCATCAAC	0.657													48	67	---	---	---	---						-	1216915	C	-	1216915	7	5	80	1	0	1	0	1	0	0	0	0	14737	507	18	0	1058	0	SLC6A19	5	1216915	Frame_Shift_Del	DEL	C	TCGA-DU-5874-01A-11D-1705-08		1216915	179698345	12	3576											
CHD1	1105	broad.mit.edu	37	5	98207864	98207864	+	Missense_Mutation	SNP	A	A	G	rs150956514	by1000genomes	TCGA-DU-5874-01A-11D-1705-08	TCGA-DU-5874-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85d915b8-0184-4ec7-93ad-e9ffa2f5743b	0b75be09-bdd0-435e-84ad-0624c781a430	g.chr5:98207864A>G	ENST00000284049.3	-	27	3901	c.3752T>C	c.(3751-3753)aTa>aCa	p.I1251T		NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	1251					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding			NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	GCCCCAGTCTATATCAAAATG	0.348													5	71					0	0	1	0	0	G	98207864	A	G	98207864	3	3	80	1	0	0	0	0	1	0	0	0	3345	449	16	3	1416	3	CHD1	5	98207864	Missense_Mutation	SNP	A	TCGA-DU-5874-01A-11D-1705-08	96990949	98207864	82707396	13	3577											
PITX1	5307	broad.mit.edu	37	5	134364859	134364859	+	Silent	SNP	G	G	A			TCGA-DU-5874-01A-11D-1705-08	TCGA-DU-5874-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85d915b8-0184-4ec7-93ad-e9ffa2f5743b	0b75be09-bdd0-435e-84ad-0624c781a430	g.chr5:134364859G>A	ENST00000265340.7	-	3	971	c.555C>T	c.(553-555)gcC>gcT	p.A185A	PITX1_ENST00000506438.1_Silent_p.A185A	NM_002653.4	NP_002644.4	P78337	PITX1_HUMAN	paired-like homeodomain 1	185	Interacts with PIT-1 (By similarity).					nucleolus	sequence-specific DNA binding			central_nervous_system(1)|cervix(3)|endometrium(3)|large_intestine(1)|lung(5)|ovary(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)	READ - Rectum adenocarcinoma(2;0.0607)		GGCTCTTGGCGGCCCAGTTGT	0.632													16	41					0	0	1	0	0	A	134364859	G	A	134364859	2	1	80	1	0	0	0	0	0	0	0	1	12002	1103	39	1		1	PITX1	5	134364859	Silent	SNP	G	TCGA-DU-5874-01A-11D-1705-08	36156995	134364859	46550401	14	3578											
CUL7	9820	broad.mit.edu	37	6	43010826	43010826	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-5874-01A-11D-1705-08	TCGA-DU-5874-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85d915b8-0184-4ec7-93ad-e9ffa2f5743b	0b75be09-bdd0-435e-84ad-0624c781a430	g.chr6:43010826C>T	ENST00000535468.1	-	18	3786	c.3700G>A	c.(3700-3702)Gtg>Atg	p.V1234M	CUL7_ENST00000265348.3_Missense_Mutation_p.V1150M	NM_001168370.1|NM_014780.4	NP_001161842.1|NP_055595.2	Q14999	CUL7_HUMAN	cullin 7	1150					interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis	anaphase-promoting complex|mitochondrion	ubiquitin protein ligase binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			TTCTCCACCACGGCCCGCCAA	0.602													11	18					0	0	1	0	0	T	43010826	C	T	43010826	3	4	80	1	0	0	0	0	1	0	0	0	4083	536	19	1	1684	1	CUL7	6	43010826	Missense_Mutation	SNP	C	TCGA-DU-5874-01A-11D-1705-08		43010826	128104241	15	3579											
SYNE1	23345	broad.mit.edu	37	6	152469200	152469200	+	Missense_Mutation	SNP	C	C	T	rs148008634	byFrequency	TCGA-DU-5874-01A-11D-1705-08	TCGA-DU-5874-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85d915b8-0184-4ec7-93ad-e9ffa2f5743b	0b75be09-bdd0-435e-84ad-0624c781a430	g.chr6:152469200C>T	ENST00000367255.5	-	137	25557	c.24956G>A	c.(24955-24957)cGg>cAg	p.R8319Q	SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000354674.4_Missense_Mutation_p.R474Q|SYNE1_ENST00000423061.1_Missense_Mutation_p.R8248Q|SYNE1_ENST00000341594.5_Missense_Mutation_p.R7931Q|SYNE1_ENST00000265368.4_Missense_Mutation_p.R8319Q|SYNE1_ENST00000448038.1_Missense_Mutation_p.R8248Q|SYNE1_ENST00000539504.1_Missense_Mutation_p.R474Q|SYNE1_ENST00000356820.4_Missense_Mutation_p.R2843Q	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	8319					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		AACAGCTCCCCGGAGGTAGAA	0.493										HNSCC(10;0.0054)			14	24					0	0	1	0	0	T	152469200	C	T	152469200	3	4	80	1	0	0	0	0	1	0	0	0	15502	652	23	1	1550	1	SYNE1	6	152469200	Missense_Mutation	SNP	C	TCGA-DU-5874-01A-11D-1705-08	109458374	152469200	18645867	16	3580											
WIPI2	26100	broad.mit.edu	37	7	5256279	5256279	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-5874-01A-11D-1705-08	TCGA-DU-5874-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85d915b8-0184-4ec7-93ad-e9ffa2f5743b	0b75be09-bdd0-435e-84ad-0624c781a430	g.chr7:5256279C>T	ENST00000288828.4	+	5	699	c.467C>T	c.(466-468)cCa>cTa	p.P156L	WIPI2_ENST00000404704.3_Missense_Mutation_p.P156L|WIPI2_ENST00000382384.2_Missense_Mutation_p.P138L|WIPI2_ENST00000401525.3_Missense_Mutation_p.P138L|WIPI2_ENST00000484262.1_Missense_Mutation_p.P97L	NM_001033518.1|NM_001278299.1|NM_015610.3	NP_001028690.1|NP_001265228.1|NP_056425.1	Q9Y4P8	WIPI2_HUMAN	WD repeat domain, phosphoinositide interacting 2	156					autophagic vacuole assembly	cytosol|PAS complex|pre-autophagosomal structure membrane	phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)	16		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0925)|OV - Ovarian serous cystadenocarcinoma(56;2.59e-14)		GAGACGCCTCCAAACCCTGCA	0.463													16	21					0	0	1	0	0	T	5256279	C	T	5256279	3	4	80	1	0	0	0	0	1	0	0	0	17431	594	21	2	519	2	WIPI2	7	5256279	Missense_Mutation	SNP	C	TCGA-DU-5874-01A-11D-1705-08		5256279	153882384	17	3581											
NPVF	64111	broad.mit.edu	37	7	25266332	25266332	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-5874-01A-11D-1705-08	TCGA-DU-5874-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85d915b8-0184-4ec7-93ad-e9ffa2f5743b	0b75be09-bdd0-435e-84ad-0624c781a430	g.chr7:25266332G>C	ENST00000222674.2	-	2	498	c.452C>G	c.(451-453)tCc>tGc	p.S151C		NM_022150.3	NP_071433	Q9HCQ7	RFRP_HUMAN	neuropeptide VF precursor	151					neuropeptide signaling pathway	extracellular region|membrane	G-protein coupled receptor activity			cervix(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|urinary_tract(1)	15						TGAATGCATGGATCCTTGACA	0.468													62	92					0	0	1	0	0	C	25266332	G	C	25266332	3	2	80	1	0	0	0	0	1	0	0	0	10653	1174	41	5	146	5	NPVF	7	25266332	Missense_Mutation	SNP	G	TCGA-DU-5874-01A-11D-1705-08	20010053	25266332	133872331	18	3582											
HEPACAM2	253012	broad.mit.edu	37	7	92825189	92825189	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-5874-01A-11D-1705-08	TCGA-DU-5874-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85d915b8-0184-4ec7-93ad-e9ffa2f5743b	0b75be09-bdd0-435e-84ad-0624c781a430	g.chr7:92825189G>T	ENST00000440868.1	-	6	1216	c.1166C>A	c.(1165-1167)tCg>tAg	p.S389*	HEPACAM2_ENST00000341723.4_Missense_Mutation_p.F397L|HEPACAM2_ENST00000492616.1_5'UTR|HEPACAM2_ENST00000394468.2_Missense_Mutation_p.F409L|HEPACAM2_ENST00000453812.2_Missense_Mutation_p.F432L			A8MVW5	HECA2_HUMAN	HEPACAM family member 2	0						integral to membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(4)|skin(1)	28						CATATATTCCGAAGTCATCCA	0.383													28	38					8.58068e-18	8.95924e-18	1	1	0	T	92825189	G	T	92825189	4	4	80	1	0	0	0	0	0	1	0	0	7094	1049	37	5	173	5	HEPACAM2	7	92825189	Nonsense_Mutation	SNP	G	TCGA-DU-5874-01A-11D-1705-08	67558857	92825189	66313474	19	3583											
OSR2	116039	broad.mit.edu	37	8	99962883	99962883	+	Splice_Site	SNP	G	G	A			TCGA-DU-5874-01A-11D-1705-08	TCGA-DU-5874-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85d915b8-0184-4ec7-93ad-e9ffa2f5743b	0b75be09-bdd0-435e-84ad-0624c781a430	g.chr8:99962883G>A	ENST00000297565.4	+	3	1152		c.e3-1		OSR2_ENST00000522510.1_Splice_Site|OSR2_ENST00000435298.2_Splice_Site|OSR2_ENST00000457907.2_Splice_Site|OSR2_ENST00000523368.1_Splice_Site	NM_001142462.1	NP_001135934.1	Q8N2R0	OSR2_HUMAN	odd-skipped related transciption factor 2						bone morphogenesis|chondrocyte differentiation|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic leg joint morphogenesis|embryonic skeletal joint morphogenesis|eyelid development in camera-type eye|head development|mesonephros development|metanephros development|middle ear morphogenesis|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|osteoblast proliferation|palate development|positive regulation of bone mineralization|positive regulation of epithelial cell proliferation|positive regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|zinc ion binding	p.?(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Breast(36;4.14e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.0136)			TTGATTTTCAGATACATCCAT	0.358													6	8					0	0	1	0	0	A	99962883	G	A	99962883	5	1	80	1	0	0	0	0	0	0	1	0	11341	956	33	2	662	2	OSR2	8	99962883	Splice_Site	SNP	G	TCGA-DU-5874-01A-11D-1705-08		99962883	46401139	20	3584											
KIAA0020	9933	broad.mit.edu	37	9	2829886	2829886	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-5874-01A-11D-1705-08	TCGA-DU-5874-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85d915b8-0184-4ec7-93ad-e9ffa2f5743b	0b75be09-bdd0-435e-84ad-0624c781a430	g.chr9:2829886C>T	ENST00000397885.2	-	8	946	c.740G>A	c.(739-741)cGg>cAg	p.R247Q	KIAA0020_ENST00000469168.1_5'UTR	NM_014878.4	NP_055693.4	Q15397	K0020_HUMAN	KIAA0020	247	PUM-HD.					endoplasmic reticulum|nucleolus	RNA binding			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)	21				GBM - Glioblastoma multiforme(50;0.0319)		TTCCGCATGCCGCAGCATCTT	0.433													56	124					0	0	1	0	0	T	2829886	C	T	2829886	3	4	80	1	0	0	0	0	1	0	0	0	8194	652	23	1	1250	1	KIAA0020	9	2829886	Missense_Mutation	SNP	C	TCGA-DU-5874-01A-11D-1705-08		2829886	138383545	21	3585											
GLIS3	169792	broad.mit.edu	37	9	4286155	4286155	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-5874-01A-11D-1705-08	TCGA-DU-5874-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85d915b8-0184-4ec7-93ad-e9ffa2f5743b	0b75be09-bdd0-435e-84ad-0624c781a430	g.chr9:4286155G>A	ENST00000381971.3	-	2	864	c.271C>T	c.(271-273)Ctc>Ttc	p.L91F		NM_001042413.1	NP_001035878.1	Q8NEA6	GLIS3_HUMAN	GLIS family zinc finger 3	325	Ser-rich.				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)		CCATTGGTGAGCATTTGTCTC	0.562													33	50					0	0	1	0	0	A	4286155	G	A	4286155	3	1	80	1	0	0	0	0	1	0	0	0	6489	971	34	2	2561	2	GLIS3	9	4286155	Missense_Mutation	SNP	G	TCGA-DU-5874-01A-11D-1705-08	1456269	4286155	136927276	22	3586											
PTGES2	80142	broad.mit.edu	37	9	130885212	130885212	+	Splice_Site	SNP	C	C	T			TCGA-DU-5874-01A-11D-1705-08	TCGA-DU-5874-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85d915b8-0184-4ec7-93ad-e9ffa2f5743b	0b75be09-bdd0-435e-84ad-0624c781a430	g.chr9:130885212C>T	ENST00000338961.6	-	5	1632		c.e5+1		PTGES2_ENST00000277462.5_Splice_Site	NM_001256335.1|NM_025072.6	NP_001243264.1|NP_079348.1	Q9H7Z7	PGES2_HUMAN	prostaglandin E synthase 2						cell redox homeostasis|prostaglandin biosynthetic process	Golgi membrane|integral to membrane|mitochondrion|perinuclear region of cytoplasm	electron carrier activity|prostaglandin-E synthase activity|protein binding|protein disulfide oxidoreductase activity			endometrium(1)|large_intestine(1)|lung(2)	4						CACACACTTGCCTGCTCTTGA	0.642													15	22					0	0	1	0	0	T	130885212	C	T	130885212	5	4	80	1	0	0	0	0	0	0	1	0	12797	753	26	2	257	2	PTGES2	9	130885212	Splice_Site	SNP	C	TCGA-DU-5874-01A-11D-1705-08	126599057	130885212	10328219	23	3587											
AIFM2	84883	broad.mit.edu	37	10	71880314	71880314	+	Silent	SNP	C	C	T			TCGA-DU-5874-01A-11D-1705-08	TCGA-DU-5874-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85d915b8-0184-4ec7-93ad-e9ffa2f5743b	0b75be09-bdd0-435e-84ad-0624c781a430	g.chr10:71880314C>T	ENST00000307864.1	-	5	669	c.456G>A	c.(454-456)tcG>tcA	p.S152S	AIFM2_ENST00000373248.1_Silent_p.S152S	NM_001198696.1|NM_032797.5	NP_001185625.1|NP_116186.1	Q9BRQ8	AIFM2_HUMAN	apoptosis-inducing factor, mitochondrion-associated, 2	152					apoptotic mitochondrial changes|chromosome condensation|induction of apoptosis	cytosol|integral to membrane|mitochondrial outer membrane	DNA binding|electron-transferring-flavoprotein dehydrogenase activity|flavin adenine dinucleotide binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|urinary_tract(2)	16						CCACTCCAGCCGAGCCTCCTC	0.522													39	73					0	0	1	0	0	T	71880314	C	T	71880314	2	4	80	1	0	0	0	0	0	0	0	1	424	639	23	1		1	AIFM2	10	71880314	Silent	SNP	C	TCGA-DU-5874-01A-11D-1705-08		71880314	63654433	24	3588											
GPR123	84435	broad.mit.edu	37	10	134898495	134898495	+	Silent	SNP	T	T	C			TCGA-DU-5874-01A-11D-1705-08	TCGA-DU-5874-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85d915b8-0184-4ec7-93ad-e9ffa2f5743b	0b75be09-bdd0-435e-84ad-0624c781a430	g.chr10:134898495T>C	ENST00000607359.1	+	8	1557	c.1557T>C	c.(1555-1557)cgT>cgC	p.R519R				Q86SQ6	GP123_HUMAN	G protein-coupled receptor 123	0						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3)	14		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)		AACAGGAACGTATCCTCCGCC	0.532													46	68					0	0	1	0	0	C	134898495	T	C	134898495	2	2	80	1	0	0	0	0	0	0	0	1	6677	1653	57	3		3	GPR123	10	134898495	Silent	SNP	T	TCGA-DU-5874-01A-11D-1705-08	63018181	134898495	636252	25	3589											
TTC17	55761	broad.mit.edu	37	11	43465682	43465683	+	In_Frame_Ins	INS	-	-	ACA			TCGA-DU-5874-01A-11D-1705-08	TCGA-DU-5874-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85d915b8-0184-4ec7-93ad-e9ffa2f5743b	0b75be09-bdd0-435e-84ad-0624c781a430	g.chr11:43465682_43465683insACA	ENST00000039989.4	+	18	2602_2603	c.2588_2589insACA	c.(2587-2592)ggtcag>ggACAtcag	p.863_864GQ>GHQ	TTC17_ENST00000526774.1_3'UTR|TTC17_ENST00000299240.6_In_Frame_Ins_p.920_921GQ>GHQ	NM_018259.5	NP_060729.2	Q96AE7	TTC17_HUMAN	tetratricopeptide repeat domain 17	863							binding			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						GTAGAAACAGGTCAGATAGAAA	0.421													7	55	---	---	---	---						ACA	43465683	-	ACA	43465682	7	5	80	1	0	1	1	0	0	0	0	0	16746	1261	44	0	2658	0	TTC17	11	43465682	In_Frame_Ins	INS	-	TCGA-DU-5874-01A-11D-1705-08		43465682	91540834	26	3590											
NTF3	4908	broad.mit.edu	37	12	5603654	5603654	+	Silent	SNP	C	C	T			TCGA-DU-5874-01A-11D-1705-08	TCGA-DU-5874-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85d915b8-0184-4ec7-93ad-e9ffa2f5743b	0b75be09-bdd0-435e-84ad-0624c781a430	g.chr12:5603654C>T	ENST00000423158.3	+	2	525	c.313C>T	c.(313-315)Ctg>Ttg	p.L105L	NTF3_ENST00000331010.6_Silent_p.L92L|NTF3_ENST00000535299.1_Intron	NM_001102654.1	NP_001096124.1	P20783	NTF3_HUMAN	neurotrophin 3	92					signal transduction	extracellular region	growth factor activity|neurotrophin receptor binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(3)|upper_aerodigestive_tract(1)	22						GGACACCGAACTGCTGCGACA	0.632													29	31					0	0	1	0	0	T	5603654	C	T	5603654	2	4	80	1	0	0	0	0	0	0	0	1	10744	564	20	2		2	NTF3	12	5603654	Silent	SNP	C	TCGA-DU-5874-01A-11D-1705-08		5603654	128248241	27	3591											
PA2G4	5036	broad.mit.edu	37	12	56504240	56504240	+	Silent	SNP	C	C	T			TCGA-DU-5874-01A-11D-1705-08	TCGA-DU-5874-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85d915b8-0184-4ec7-93ad-e9ffa2f5743b	0b75be09-bdd0-435e-84ad-0624c781a430	g.chr12:56504240C>T	ENST00000303305.6	+	8	1106	c.687C>T	c.(685-687)ctC>ctT	p.L229L	RP11-603J24.17_ENST00000548595.1_RNA|PA2G4_ENST00000552766.1_Silent_p.L229L	NM_006191.2	NP_006182.2	Q9UQ80	PA2G4_HUMAN	proliferation-associated 2G4, 38kDa	229					cell cycle arrest|cell proliferation|negative regulation of transcription, DNA-dependent|regulation of translation|rRNA processing	cytoplasm|nucleolus|ribonucleoprotein complex	DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|ubiquitin protein ligase binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(18;0.0739)			TGGATGTTCTCGTCAGCTCAG	0.403													28	34					0	0	1	0	0	T	56504240	C	T	56504240	2	4	80	1	0	0	0	0	0	0	0	1	11408	871	31	1		1	PA2G4	12	56504240	Silent	SNP	C	TCGA-DU-5874-01A-11D-1705-08	50900586	56504240	77347655	28	3592											
FGF14	2259	broad.mit.edu	37	13	103053948	103053948	+	Silent	SNP	C	C	T			TCGA-DU-5874-01A-11D-1705-08	TCGA-DU-5874-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85d915b8-0184-4ec7-93ad-e9ffa2f5743b	0b75be09-bdd0-435e-84ad-0624c781a430	g.chr13:103053948C>T	ENST00000376131.4	-	1	176	c.81G>A	c.(79-81)agG>agA	p.R27R	RP11-811P12.3_ENST00000418923.2_RNA	NM_175929.2	NP_787125.1	Q92915	FGF14_HUMAN	fibroblast growth factor 14	0					cell death|cell-cell signaling|JNK cascade|nervous system development|signal transduction	nucleus	growth factor activity|heparin binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)	29	all_neural(89;0.0239)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GCTTAGACACCCTGAGAAAGA	0.413													22	53					0	0	1	0	0	T	103053948	C	T	103053948	2	4	80	1	0	0	0	0	0	0	0	1	5876	622	22	2		2	FGF14	13	103053948	Silent	SNP	C	TCGA-DU-5874-01A-11D-1705-08		103053948	12115930	29	3593											
OR11G2	390439	broad.mit.edu	37	14	20666311	20666311	+	Nonsense_Mutation	SNP	A	A	T			TCGA-DU-5874-01A-11D-1705-08	TCGA-DU-5874-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85d915b8-0184-4ec7-93ad-e9ffa2f5743b	0b75be09-bdd0-435e-84ad-0624c781a430	g.chr14:20666311A>T	ENST00000357366.3	+	1	817	c.817A>T	c.(817-819)Aga>Tga	p.R273*		NM_001005503.1	NP_001005503.1	Q8NGC1	O11G2_HUMAN	olfactory receptor, family 11, subfamily G, member 2	273					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(95;0.00108)		Epithelial(56;9.76e-07)|all cancers(55;5.61e-06)	GBM - Glioblastoma multiforme(265;0.0144)		AGCTGGGAGAAGAAAGGCTTT	0.517													10	149					0	0	1	0	0	T	20666311	A	T	20666311	4	4	80	1	0	0	0	0	0	1	0	0	10973	64	3	5	819	5	OR11G2	14	20666311	Nonsense_Mutation	SNP	A	TCGA-DU-5874-01A-11D-1705-08		20666311	86683229	30	3594											
MYH6	4624	broad.mit.edu	37	14	23855703	23855703	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-5874-01A-11D-1705-08	TCGA-DU-5874-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85d915b8-0184-4ec7-93ad-e9ffa2f5743b	0b75be09-bdd0-435e-84ad-0624c781a430	g.chr14:23855703G>A	ENST00000405093.3	-	33	4850	c.4780C>T	c.(4780-4782)Cgg>Tgg	p.R1594W	MYH6_ENST00000356287.3_Missense_Mutation_p.R1594W	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	1594					adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle	p.R1594R(1)		breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		TCCACCACCCGCTGGTGGTTG	0.592													50	107					0	0	1	0	0	A	23855703	G	A	23855703	3	1	80	1	0	0	0	0	1	0	0	0	10086	1086	38	1	1067	1	MYH6	14	23855703	Missense_Mutation	SNP	G	TCGA-DU-5874-01A-11D-1705-08	3189392	23855703	83493837	31	3595											
MYH7	4625	broad.mit.edu	37	14	23887505	23887505	+	Silent	SNP	A	A	C			TCGA-DU-5874-01A-11D-1705-08	TCGA-DU-5874-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85d915b8-0184-4ec7-93ad-e9ffa2f5743b	0b75be09-bdd0-435e-84ad-0624c781a430	g.chr14:23887505A>C	ENST00000355349.3	-	30	4245	c.4083T>G	c.(4081-4083)ctT>ctG	p.L1361L		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1361					adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.L1361L(1)		NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		TGGCCTTGGAAAGGACGCGCT	0.652													4	71					0	0	1	0	0	C	23887505	A	C	23887505	2	2	80	1	0	0	0	0	0	0	0	1	10087	1	1	5		5	MYH7	14	23887505	Silent	SNP	A	TCGA-DU-5874-01A-11D-1705-08	31802	23887505	83462035	32	3596											
SEC23A	10484	broad.mit.edu	37	14	39502455	39502455	+	Silent	SNP	G	G	A			TCGA-DU-5874-01A-11D-1705-08	TCGA-DU-5874-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85d915b8-0184-4ec7-93ad-e9ffa2f5743b	0b75be09-bdd0-435e-84ad-0624c781a430	g.chr14:39502455G>A	ENST00000537403.1	-	16	2882	c.1680C>T	c.(1678-1680)tcC>tcT	p.S560S	SEC23A_ENST00000307712.6_Silent_p.S762S|SEC23A_ENST00000536508.1_Silent_p.S660S|SEC23A_ENST00000545328.2_Silent_p.S733S			Q15436	SC23A_HUMAN	Sec23 homolog A (S. cerevisiae)	762					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|Golgi membrane|smooth endoplasmic reticulum membrane	protein binding|zinc ion binding			kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(1)	23	Hepatocellular(127;0.213)		Lung(238;0.00047)|LUAD - Lung adenocarcinoma(48;0.000565)	GBM - Glioblastoma multiforme(112;0.0151)		AAGCAGCACTGGACACAGCAA	0.328													4	76					0	0	1	0	0	A	39502455	G	A	39502455	2	1	80	1	0	0	0	0	0	0	0	1	14045	1335	47	2		2	SEC23A	14	39502455	Silent	SNP	G	TCGA-DU-5874-01A-11D-1705-08	15614950	39502455	67847085	33	3597											
PTPN21	11099	broad.mit.edu	37	14	88938593	88938593	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-5874-01A-11D-1705-08	TCGA-DU-5874-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85d915b8-0184-4ec7-93ad-e9ffa2f5743b	0b75be09-bdd0-435e-84ad-0624c781a430	g.chr14:88938593T>C	ENST00000556564.1	-	15	3150	c.2866A>G	c.(2866-2868)Att>Gtt	p.I956V	PTPN21_ENST00000328736.3_Missense_Mutation_p.I956V	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type 21	956	Tyrosine-protein phosphatase.					cytoplasm|cytoskeleton	binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						CTCACCTTAATATGTGATGCG	0.373													21	19					0	0	1	0	0	C	88938593	T	C	88938593	3	2	80	1	0	0	0	0	1	0	0	0	12838	1406	49	3	678	3	PTPN21	14	88938593	Missense_Mutation	SNP	T	TCGA-DU-5874-01A-11D-1705-08	49436138	88938593	18410947	34	3598											
PPP1R13B	23368	broad.mit.edu	37	14	104220415	104220415	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-5874-01A-11D-1705-08	TCGA-DU-5874-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85d915b8-0184-4ec7-93ad-e9ffa2f5743b	0b75be09-bdd0-435e-84ad-0624c781a430	g.chr14:104220415C>T	ENST00000202556.9	-	6	905	c.623G>A	c.(622-624)gGc>gAc	p.G208D		NM_015316.2	NP_056131.2	Q96KQ4	ASPP1_HUMAN	protein phosphatase 1, regulatory subunit 13B	208	Gln-rich.				apoptosis|induction of apoptosis|negative regulation of cell cycle	cytoplasm|nucleus|plasma membrane	protein binding			endometrium(6)|kidney(2)|large_intestine(7)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155)				ACACAGATTGCCGTTCATGAT	0.463													4	162					0	0	1	0	0	T	104220415	C	T	104220415	3	4	80	1	0	0	0	0	1	0	0	0	12406	739	26	2	2697	2	PPP1R13B	14	104220415	Missense_Mutation	SNP	C	TCGA-DU-5874-01A-11D-1705-08	15281822	104220415	3129125	35	3599											
MYO9A	4649	broad.mit.edu	37	15	72122614	72122614	+	Silent	SNP	T	T	C			TCGA-DU-5874-01A-11D-1705-08	TCGA-DU-5874-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85d915b8-0184-4ec7-93ad-e9ffa2f5743b	0b75be09-bdd0-435e-84ad-0624c781a430	g.chr15:72122614T>C	ENST00000356056.5	-	40	7348	c.6876A>G	c.(6874-6876)ccA>ccG	p.P2292P	MYO9A_ENST00000444904.1_Silent_p.P2273P|MYO9A_ENST00000564571.1_Silent_p.P2292P|MYO9A_ENST00000424560.1_Silent_p.P2363P	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	2292	Tail.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						CAGGAGACGATGGACCTGGAT	0.468													42	32					0	0	1	0	0	C	72122614	T	C	72122614	2	2	80	1	0	0	0	0	0	0	0	1	10132	1451	51	3		3	MYO9A	15	72122614	Silent	SNP	T	TCGA-DU-5874-01A-11D-1705-08		72122614	30408778	36	3600											
LRRK1	79705	broad.mit.edu	37	15	101555560	101555560	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-5874-01A-11D-1705-08	TCGA-DU-5874-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85d915b8-0184-4ec7-93ad-e9ffa2f5743b	0b75be09-bdd0-435e-84ad-0624c781a430	g.chr15:101555560T>G	ENST00000284395.5	+	13	1953	c.1553T>G	c.(1552-1554)aTt>aGt	p.I518S	LRRK1_ENST00000388948.3_Missense_Mutation_p.I521S			Q38SD2	LRRK1_HUMAN	leucine-rich repeat kinase 1	521					small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			ACGAAGCGTATTGCCTTTTTC	0.517											OREG0023522	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	10					0	0	1	0	0	G	101555560	T	G	101555560	3	3	80	1	0	0	0	0	1	0	0	0	9077	1493	52	4	1604	4	LRRK1	15	101555560	Missense_Mutation	SNP	T	TCGA-DU-5874-01A-11D-1705-08	29432946	101555560	975832	37	3601											
PKD1	5310	broad.mit.edu	37	16	2161835	2161835	+	Silent	SNP	G	G	A			TCGA-DU-5874-01A-11D-1705-08	TCGA-DU-5874-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85d915b8-0184-4ec7-93ad-e9ffa2f5743b	0b75be09-bdd0-435e-84ad-0624c781a430	g.chr16:2161835G>A	ENST00000262304.4	-	15	3541	c.3333C>T	c.(3331-3333)ttC>ttT	p.F1111F	PKD1_ENST00000423118.1_Silent_p.F1111F	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	1111	PKD 5.				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						TCAGGTTCTCGAAGGCATTAG	0.706													4	14					0	0	1	0	0	A	2161835	G	A	2161835	2	1	80	1	0	0	0	0	0	0	0	1	12011	1049	37	1		1	PKD1	16	2161835	Silent	SNP	G	TCGA-DU-5874-01A-11D-1705-08		2161835	88192918	38	3602											
FOXF1	2294	broad.mit.edu	37	16	86546529	86546529	+	Splice_Site	SNP	A	A	G			TCGA-DU-5874-01A-11D-1705-08	TCGA-DU-5874-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85d915b8-0184-4ec7-93ad-e9ffa2f5743b	0b75be09-bdd0-435e-84ad-0624c781a430	g.chr16:86546529A>G	ENST00000262426.4	+	2	1022		c.e2-1			NM_001451.2	NP_001442.2	Q12946	FOXF1_HUMAN	forkhead box F1						branching involved in open tracheal system development|cardiac left ventricle morphogenesis|embryonic ectodermal digestive tract morphogenesis|endocardial cushion development|in utero embryonic development|lung vasculature development|midgut development|pancreas development|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|ureter development|venous blood vessel development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(1)	12						CTCGCCTTGCAGGCATCCCGC	0.627													3	26					0	0	1	0	0	G	86546529	A	G	86546529	5	3	80	1	0	0	0	0	0	0	1	0	6039	202	7	3	984	3	FOXF1	16	86546529	Splice_Site	SNP	A	TCGA-DU-5874-01A-11D-1705-08	84384694	86546529	3808224	39	3603											
SCPEP1	59342	broad.mit.edu	37	17	55072877	55072877	+	Missense_Mutation	SNP	G	G	A	rs138036655		TCGA-DU-5874-01A-11D-1705-08	TCGA-DU-5874-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85d915b8-0184-4ec7-93ad-e9ffa2f5743b	0b75be09-bdd0-435e-84ad-0624c781a430	g.chr17:55072877G>A	ENST00000262288.3	+	8	722	c.667G>A	c.(667-669)Gaa>Aaa	p.E223K		NM_021626.2	NP_067639.1	Q9HB40	RISC_HUMAN	serine carboxypeptidase 1	223					proteolysis	extracellular region	serine-type carboxypeptidase activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|skin(2)	14	Breast(9;2.86e-08)					GTCTCTTCTCGAAGACAAAGG	0.502													5	55					0	0	1	0	0	A	55072877	G	A	55072877	3	1	80	1	0	0	0	0	1	0	0	0	13989	1059	37	1	697	1	SCPEP1	17	55072877	Missense_Mutation	SNP	G	TCGA-DU-5874-01A-11D-1705-08		55072877	26122333	40	3604											
USH1G	124590	broad.mit.edu	37	17	72916252	72916252	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-5874-01A-11D-1705-08	TCGA-DU-5874-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85d915b8-0184-4ec7-93ad-e9ffa2f5743b	0b75be09-bdd0-435e-84ad-0624c781a430	g.chr17:72916252C>T	ENST00000319642.1	-	2	861	c.679G>A	c.(679-681)Ggc>Agc	p.G227S		NM_001282489.1|NM_173477.2	NP_001269418.1|NP_775748.2	Q495M9	USH1G_HUMAN	Usher syndrome 1G (autosomal recessive)	227					equilibrioception|photoreceptor cell maintenance|sensory perception of sound	actin cytoskeleton			HN1/USH1G(2)	endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(3)	14	all_lung(278;0.172)|Lung NSC(278;0.207)					GTGCCTTCGCCGCCCTGCTTG	0.692													22	30					0	0	1	0	0	T	72916252	C	T	72916252	3	4	80	1	0	0	0	0	1	0	0	0	17095	652	23	1	714	1	USH1G	17	72916252	Missense_Mutation	SNP	C	TCGA-DU-5874-01A-11D-1705-08	17843375	72916252	8278958	41	3605											
PPP4R1	9989	broad.mit.edu	37	18	9549244	9549244	+	Silent	SNP	G	G	A			TCGA-DU-5874-01A-11D-1705-08	TCGA-DU-5874-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85d915b8-0184-4ec7-93ad-e9ffa2f5743b	0b75be09-bdd0-435e-84ad-0624c781a430	g.chr18:9549244G>A	ENST00000400556.3	-	19	2713	c.2640C>T	c.(2638-2640)aaC>aaT	p.N880N	PPP4R1_ENST00000400555.3_Silent_p.N863N	NM_001042388.2	NP_001035847.1	Q8TF05	PP4R1_HUMAN	protein phosphatase 4, regulatory subunit 1	880					protein phosphorylation|signal transduction	protein phosphatase 4 complex	protein binding|protein phosphatase type 4 regulator activity			large_intestine(1)|skin(2)	3						GCACTCGCACGTTAGGAACCC	0.478													61	65					0	0	1	0	0	A	9549244	G	A	9549244	2	1	80	1	0	0	0	0	0	0	0	1	12452	1136	40	1		1	PPP4R1	18	9549244	Silent	SNP	G	TCGA-DU-5874-01A-11D-1705-08		9549244	68528004	42	3606											
KCNG2	26251	broad.mit.edu	37	18	77623899	77623899	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DU-5874-01A-11D-1705-08	TCGA-DU-5874-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85d915b8-0184-4ec7-93ad-e9ffa2f5743b	0b75be09-bdd0-435e-84ad-0624c781a430	g.chr18:77623899delT	ENST00000316249.3	+	1	232	c.232delT	c.(232-234)ttcfs	p.F78fs		NM_012283.1	NP_036415.1	Q9UJ96	KCNG2_HUMAN	potassium voltage-gated channel, subfamily G, member 2	78					energy reserve metabolic process|regulation of heart contraction|regulation of insulin secretion	voltage-gated potassium channel complex	delayed rectifier potassium channel activity			breast(2)|endometrium(4)|lung(7)|skin(1)|upper_aerodigestive_tract(4)	18		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244)		CCCGTGCGCCTTCCGCGCCAT	0.716													2	4	---	---	---	---						-	77623899	T	-	77623899	7	5	80	1	0	1	0	1	0	0	0	0	8072	1609	56	0	234	0	KCNG2	18	77623899	Frame_Shift_Del	DEL	T	TCGA-DU-5874-01A-11D-1705-08	68074655	77623899	453349	43	3607											
FSTL3	10272	broad.mit.edu	37	19	681421	681421	+	Silent	SNP	G	G	A			TCGA-DU-5874-01A-11D-1705-08	TCGA-DU-5874-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85d915b8-0184-4ec7-93ad-e9ffa2f5743b	0b75be09-bdd0-435e-84ad-0624c781a430	g.chr19:681421G>A	ENST00000166139.4	+	4	626	c.594G>A	c.(592-594)gcG>gcA	p.A198A	FSTL3_ENST00000592947.1_3'UTR	NM_005860.2	NP_005851.1	O95633	FSTL3_HUMAN	follistatin-like 3 (secreted glycoprotein)	198	Kazal-like 2.				hemopoietic progenitor cell differentiation|negative regulation of activin receptor signaling pathway|negative regulation of BMP signaling pathway|negative regulation of osteoclast differentiation|ossification|positive regulation of cell-cell adhesion|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	extracellular space|nucleus	activin binding|fibronectin binding						all_epithelial(18;2.19e-21)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)		GTCGAGCGGCGCCCTGCCCTG	0.692			T	CCND1	B-CLL								5	6					0	0	1	0	0	A	681421	G	A	681421	2	1	80	1	0	0	0	0	0	0	0	1	6113	1074	38	1		1	FSTL3	19	681421	Silent	SNP	G	TCGA-DU-5874-01A-11D-1705-08		681421	58447562	44	3608											
CD93	22918	broad.mit.edu	37	20	23065004	23065004	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-5874-01A-11D-1705-08	TCGA-DU-5874-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85d915b8-0184-4ec7-93ad-e9ffa2f5743b	0b75be09-bdd0-435e-84ad-0624c781a430	g.chr20:23065004C>T	ENST00000246006.4	-	1	1973	c.1826G>A	c.(1825-1827)cGg>cAg	p.R609Q		NM_012072.3	NP_036204.2	Q9NPY3	C1QR1_HUMAN	CD93 molecule	609					cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding			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)					CTTCGCTCTCCGCTTGCGATA	0.577													68	86					0	0	1	0	0	T	23065004	C	T	23065004	3	4	80	1	0	0	0	0	1	0	0	0	3069	652	23	1	140	1	CD93	20	23065004	Missense_Mutation	SNP	C	TCGA-DU-5874-01A-11D-1705-08		23065004	39960516	45	3609											
CHMP4B	128866	broad.mit.edu	37	20	32439895	32439895	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-5874-01A-11D-1705-08	TCGA-DU-5874-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85d915b8-0184-4ec7-93ad-e9ffa2f5743b	0b75be09-bdd0-435e-84ad-0624c781a430	g.chr20:32439895G>A	ENST00000217402.2	+	4	661	c.496G>A	c.(496-498)Gcg>Acg	p.A166T		NM_176812.4	NP_789782.1	Q9H444	CHM4B_HUMAN	charged multivesicular body protein 4B	166					cellular membrane organization|endosome transport|protein transport	cytosol|late endosome membrane	protein binding			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	13						TGAGCTCATGGCGGAATTAGA	0.493													11	114					0	0	1	0	0	A	32439895	G	A	32439895	3	1	80	1	0	0	0	0	1	0	0	0	3379	1203	42	2	510	2	CHMP4B	20	32439895	Missense_Mutation	SNP	G	TCGA-DU-5874-01A-11D-1705-08	9374891	32439895	30585625	46	3610											
SON	6651	broad.mit.edu	37	21	34921914	34921914	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-5874-01A-11D-1705-08	TCGA-DU-5874-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85d915b8-0184-4ec7-93ad-e9ffa2f5743b	0b75be09-bdd0-435e-84ad-0624c781a430	g.chr21:34921914A>G	ENST00000356577.4	+	3	852	c.377A>G	c.(376-378)gAa>gGa	p.E126G	SON_ENST00000381692.2_Intron|SON_ENST00000300278.4_Missense_Mutation_p.E126G|SON_ENST00000290239.6_Missense_Mutation_p.E126G|SON_ENST00000381679.4_Missense_Mutation_p.E126G	NM_138927.1	NP_620305	P18583	SON_HUMAN	SON DNA binding protein	126				E -> K (in Ref. 7; BAB14985).	anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding			breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						aaagaaaaggaaaaaaaaTAT	0.303											OREG0003562	type=REGULATORY REGION|Gene=AK091233|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	13	17					0	0	1	0	0	G	34921914	A	G	34921914	3	3	80	1	0	0	0	0	1	0	0	0	14980	246	9	3	387	3	SON	21	34921914	Missense_Mutation	SNP	A	TCGA-DU-5874-01A-11D-1705-08		34921914	13207981	47	3611											
LZTR1	8216	broad.mit.edu	37	22	21348256	21348256	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-5874-01A-11D-1705-08	TCGA-DU-5874-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85d915b8-0184-4ec7-93ad-e9ffa2f5743b	0b75be09-bdd0-435e-84ad-0624c781a430	g.chr22:21348256G>A	ENST00000215739.8	+	13	1756	c.1397G>A	c.(1396-1398)cGg>cAg	p.R466Q	LZTR1_ENST00000389355.3_Missense_Mutation_p.R447Q|LZTR1_ENST00000479606.1_3'UTR	NM_006767.3	NP_006758.2	Q8N653	LZTR1_HUMAN	leucine-zipper-like transcription regulator 1	466	BTB 1.				anatomical structure morphogenesis		sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			GTCACAGCGCGGAGCCGCTGG	0.647													12	15					0	0	1	0	0	A	21348256	G	A	21348256	3	1	80	1	0	0	0	0	1	0	0	0	9183	1116	39	1	1447	1	LZTR1	22	21348256	Missense_Mutation	SNP	G	TCGA-DU-5874-01A-11D-1705-08		21348256	29956310	48	3612											
FBLN1	2192	broad.mit.edu	37	22	45931164	45931164	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-5874-01A-11D-1705-08	TCGA-DU-5874-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85d915b8-0184-4ec7-93ad-e9ffa2f5743b	0b75be09-bdd0-435e-84ad-0624c781a430	g.chr22:45931164C>A	ENST00000348697.2	+	8	1016	c.869C>A	c.(868-870)cCc>cAc	p.P290H	FBLN1_ENST00000442170.2_Missense_Mutation_p.P290H|FBLN1_ENST00000402984.3_Missense_Mutation_p.P328H|FBLN1_ENST00000262722.7_Missense_Mutation_p.P290H|FBLN1_ENST00000340923.5_Missense_Mutation_p.P290H|FBLN1_ENST00000327858.6_Missense_Mutation_p.P290H			P23142	FBLN1_HUMAN	fibulin 1	290	EGF-like 3; calcium-binding (Potential).				interspecies interaction between organisms	extracellular space|soluble fraction	calcium ion binding|extracellular matrix structural constituent|protein binding			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	30		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		CGCTGCCGACCCAAGCTACAG	0.483													22	38					3.62473e-10	3.7298e-10	1	1	0	A	45931164	C	A	45931164	3	1	80	1	0	0	0	0	1	0	0	0	5731	623	22	5	899	5	FBLN1	22	45931164	Missense_Mutation	SNP	C	TCGA-DU-5874-01A-11D-1705-08	24582908	45931164	5373402	49	3613											
HCCS	3052	broad.mit.edu	37	X	11133053	11133053	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-5874-01A-11D-1705-08	TCGA-DU-5874-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85d915b8-0184-4ec7-93ad-e9ffa2f5743b	0b75be09-bdd0-435e-84ad-0624c781a430	g.chrX:11133053C>A	ENST00000321143.4	+	3	401	c.199C>A	c.(199-201)Ccc>Acc	p.P67T	HCCS_ENST00000380763.3_Missense_Mutation_p.P67T|HCCS_ENST00000380762.4_Missense_Mutation_p.P67T	NM_001122608.2|NM_001171991.2|NM_005333.4	NP_001116080.1|NP_001165462.1|NP_005324.3	P53701	CCHL_HUMAN	holocytochrome c synthase	67					organ morphogenesis|oxidation-reduction process	mitochondrial inner membrane	holocytochrome-c synthase activity|metal ion binding			kidney(1)|large_intestine(3)|lung(3)	7						CGTGGAGTGTCCCATTAGGGG	0.498													43	56					1.41504e-22	1.49951e-22	1	1	0	A	11133053	C	A	11133053	3	1	80	1	0	0	0	0	1	0	0	0	7031	855	30	5	205	5	HCCS	23	11133053	Missense_Mutation	SNP	C	TCGA-DU-5874-01A-11D-1705-08		11133053	144137507	50	3614											
GABRE	2564	broad.mit.edu	37	X	151123361	151123361	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-5874-01A-11D-1705-08	TCGA-DU-5874-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85d915b8-0184-4ec7-93ad-e9ffa2f5743b	0b75be09-bdd0-435e-84ad-0624c781a430	g.chrX:151123361C>T	ENST00000370328.3	-	9	1386	c.1333G>A	c.(1333-1335)Gcc>Acc	p.A445T	GABRE_ENST00000483564.1_5'UTR|GABRE_ENST00000370325.1_3'UTR	NM_004961.3	NP_004952.2	P78334	GBRE_HUMAN	gamma-aminobutyric acid (GABA) A receptor, epsilon	445					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					TCACAGCAGGCCAGCTTGGAG	0.617													21	22					0	0	1	0	0	T	151123361	C	T	151123361	3	4	80	1	0	0	0	0	1	0	0	0	6205	739	26	2	191	2	GABRE	23	151123361	Missense_Mutation	SNP	C	TCGA-DU-5874-01A-11D-1705-08	139990308	151123361	4147199	51	3615											
ATP2B3	492	broad.mit.edu	37	X	152845601	152845601	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-5874-01A-11D-1705-08	TCGA-DU-5874-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85d915b8-0184-4ec7-93ad-e9ffa2f5743b	0b75be09-bdd0-435e-84ad-0624c781a430	g.chrX:152845601C>T	ENST00000263519.4	+	20	3634	c.3508C>T	c.(3508-3510)Cgc>Tgc	p.R1170C	ATP2B3_ENST00000370186.1_3'UTR|ATP2B3_ENST00000349466.2_Missense_Mutation_p.R1170C|ATP2B3_ENST00000370181.2_3'UTR|ATP2B3_ENST00000359149.3_3'UTR	NM_001001344.2	NP_001001344.1	Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	1170					ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding	p.R1170C(1)		NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GAACGAGGAGCGCCTCCGGGC	0.592													67	68					0	0	1	0	0	T	152845601	C	T	152845601	3	4	80	1	0	0	0	0	1	0	0	0	1140	768	27	1	3744	1	ATP2B3	23	152845601	Missense_Mutation	SNP	C	TCGA-DU-5874-01A-11D-1705-08	1722240	152845601	2424959	52	3616											
NOC2L	26155	broad.mit.edu	37	1	892506	892506	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:892506C>T	ENST00000327044.6	-	3	376	c.327G>A	c.(325-327)ccG>ccA	p.P109P	NOC2L_ENST00000487214.1_5'UTR	NM_015658.3	NP_056473	Q9Y3T9	NOC2L_HUMAN	nucleolar complex associated 2 homolog (S. cerevisiae)	109						nucleolus	protein binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	16	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.86e-38)|OV - Ovarian serous cystadenocarcinoma(86;6.08e-23)|Colorectal(212;0.000161)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(365;0.000475)|Kidney(185;0.00231)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)		GGGAGTGGAACGGCCCCTCTT	0.577													58	81					0	0	1	0	0	T	892506	C	T	892506	2	4	81	1	0	0	0	0	0	0	0	1	10560	523	19	1		1	NOC2L	1	892506	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08		892506	248358115	1	3617											
KLHL17	339451	broad.mit.edu	37	1	898614	898614	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:898614C>T	ENST00000338591.3	+	7	1275	c.1168C>T	c.(1168-1170)Cgg>Tgg	p.R390W		NM_198317.2	NP_938073.1	Q6TDP4	KLH17_HUMAN	kelch-like family member 17	390	Interaction with F-actin (By similarity).				actin cytoskeleton organization	actin cytoskeleton|cell junction|postsynaptic density|postsynaptic membrane	protein complex scaffold			central_nervous_system(1)|kidney(2)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.52e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.59e-23)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000469)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		GGTGGGGAACCGGCTCTATGC	0.687													9	10					0	0	1	0	0	T	898614	C	T	898614	3	4	81	1	0	0	0	0	1	0	0	0	8415	643	23	1	1194	1	KLHL17	1	898614	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	6108	898614	248352007	2	3618											
ISG15	9636	broad.mit.edu	37	1	949506	949506	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:949506C>T	ENST00000379389.4	+	2	297	c.146C>T	c.(145-147)cCg>cTg	p.P49L		NM_005101.3	NP_005092.1	P05161	ISG15_HUMAN	ISG15 ubiquitin-like modifier	49	Ubiquitin-like 1.				cell-cell signaling|interspecies interaction between organisms|ISG15-protein conjugation|negative regulation of type I interferon production|response to virus|type I interferon-mediated signaling pathway	cytosol|extracellular space	protein binding			endometrium(1)|lung(1)|upper_aerodigestive_tract(1)	3	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;4.05e-38)|OV - Ovarian serous cystadenocarcinoma(86;4.54e-23)|Colorectal(212;5.37e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00238)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)		GCTGTCCACCCGAGCGGTGTG	0.667													4	50					0	0	1	0	0	T	949506	C	T	949506	3	4	81	1	0	0	0	0	1	0	0	0	7897	652	23	1	152	1	ISG15	1	949506	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	50892	949506	248301115	3	3619											
AGRN	375790	broad.mit.edu	37	1	986164	986164	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:986164C>T	ENST00000379370.2	+	30	5250	c.5200C>T	c.(5200-5202)Cgc>Tgc	p.R1734C		NM_198576.3	NP_940978.2	O00468	AGRIN_HUMAN	agrin	1734	Laminin G-like 2.				axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering	basal lamina	laminin binding|structural constituent of cytoskeleton	p.R1734C(1)		breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		GCGAAACGGCCGCAAGGGTGC	0.706													4	6					0	0	1	0	0	T	986164	C	T	986164	3	4	81	1	0	0	0	0	1	0	0	0	394	652	23	1	5318	1	AGRN	1	986164	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	36658	986164	248264457	4	3620											
TNFRSF4	7293	broad.mit.edu	37	1	1148385	1148385	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:1148385G>A	ENST00000379236.3	-	3	361	c.357C>T	c.(355-357)taC>taT	p.Y119Y	TNFRSF4_ENST00000453580.1_5'UTR	NM_003327.3	NP_003318.1	P43489	TNR4_HUMAN	tumor necrosis factor receptor superfamily, member 4	119					immune response|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|positive regulation of B cell proliferation|positive regulation of immunoglobulin secretion|T cell proliferation	integral to plasma membrane	tumor necrosis factor receptor activity			large_intestine(1)|lung(2)|urinary_tract(1)	4	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;3.73e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.01e-21)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		CTCCAGGCTTGTAGCTGTCCA	0.697													6	15					0	0	1	0	0	A	1148385	G	A	1148385	2	1	81	1	0	0	0	0	0	0	0	1	16357	1372	48	2		2	TNFRSF4	1	1148385	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	162221	1148385	248102236	5	3621											
UBE2J2	118424	broad.mit.edu	37	1	1192381	1192381	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:1192381C>T	ENST00000347370.2	-	5	722	c.249G>A	c.(247-249)tcG>tcA	p.S83S	UBE2J2_ENST00000349431.6_Silent_p.S135S|UBE2J2_ENST00000339385.6_Silent_p.S100S|UBE2J2_ENST00000491779.1_5'UTR|UBE2J2_ENST00000400929.2_Silent_p.S83S|UBE2J2_ENST00000360466.2_Silent_p.S135S|UBE2J2_ENST00000348298.7_Silent_p.S83S|UBE2J2_ENST00000400930.4_Silent_p.S151S	NM_194458.1	NP_919440.1	Q8N2K1	UB2J2_HUMAN	ubiquitin-conjugating enzyme E2, J2	135					response to unfolded protein	endoplasmic reticulum membrane|integral to membrane	ATP binding|ubiquitin-protein ligase activity			cervix(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;6.66e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.53e-21)|Colorectal(212;0.00019)|COAD - Colon adenocarcinoma(227;0.000215)|Kidney(185;0.00255)|BRCA - Breast invasive adenocarcinoma(365;0.00266)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0371)|Lung(427;0.205)		CCGTGAAGTCCGACGTCTCTA	0.577													33	63					0	0	1	0	0	T	1192381	C	T	1192381	2	4	81	1	0	0	0	0	0	0	0	1	16922	639	23	1		1	UBE2J2	1	1192381	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	43996	1192381	248058240	6	3622											
UBE2J2	118424	broad.mit.edu	37	1	1203186	1203186	+	Translation_Start_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:1203186G>T	ENST00000347370.2	-	0	375				UBE2J2_ENST00000349431.6_Intron|UBE2J2_ENST00000491779.1_Intron|UBE2J2_ENST00000400929.2_Intron|UBE2J2_ENST00000360466.2_Intron|UBE2J2_ENST00000348298.7_Intron|UBE2J2_ENST00000400930.4_Intron	NM_194458.1	NP_919440.1	Q8N2K1	UB2J2_HUMAN	ubiquitin-conjugating enzyme E2, J2						response to unfolded protein	endoplasmic reticulum membrane|integral to membrane	ATP binding|ubiquitin-protein ligase activity			cervix(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;6.66e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.53e-21)|Colorectal(212;0.00019)|COAD - Colon adenocarcinoma(227;0.000215)|Kidney(185;0.00255)|BRCA - Breast invasive adenocarcinoma(365;0.00266)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0371)|Lung(427;0.205)		GGGGCCGGCAGAGGCCTGCGT	0.682													6	40					0.00198382	0.00209725	1	1	0	T	1203186	G	T	1203186	1	4	81	1	0	0	0	0	0	0	0	0	16922	957	33	4		4	UBE2J2	1	1203186	Translation_Start_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	10805	1203186	248047435	7	3623											
ACAP3	116983	broad.mit.edu	37	1	1231407	1231407	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:1231407G>A	ENST00000354700.5	-	17	1692	c.1490C>T	c.(1489-1491)gCc>gTc	p.A497V	ACAP3_ENST00000353662.3_Missense_Mutation_p.A455V	NM_030649.2	NP_085152.2	Q96P50	ACAP3_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 3	497	Arf-GAP.				filopodium assembly|regulation of ARF GTPase activity|signal transduction		ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding			endometrium(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	14						GGAGCTGCTGGCTGTGGGTTT	0.622													9	32					0	0	1	0	0	A	1231407	G	A	1231407	3	1	81	1	0	0	0	0	1	0	0	0	120	1203	42	2	1046	2	ACAP3	1	1231407	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	28221	1231407	248019214	8	3624											
ACAP3	116983	broad.mit.edu	37	1	1234013	1234013	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:1234013G>T	ENST00000354700.5	-	11	999	c.797C>A	c.(796-798)cCc>cAc	p.P266H	ACAP3_ENST00000353662.3_Missense_Mutation_p.P224H	NM_030649.2	NP_085152.2	Q96P50	ACAP3_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 3	266					filopodium assembly|regulation of ARF GTPase activity|signal transduction		ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding			endometrium(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	14						CACCCCACTGGGCGCGTCCAC	0.637													6	32					0.0381472	0.0389402	1	1	0	T	1234013	G	T	1234013	3	4	81	1	0	0	0	0	1	0	0	0	120	1232	43	5	1763	5	ACAP3	1	1234013	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2606	1234013	248016608	9	3625											
ACAP3	116983	broad.mit.edu	37	1	1235548	1235548	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:1235548A>G	ENST00000354700.5	-	7	759	c.557T>C	c.(556-558)aTc>aCc	p.I186T	ACAP3_ENST00000353662.3_Missense_Mutation_p.I144T	NM_030649.2	NP_085152.2	Q96P50	ACAP3_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 3	186					filopodium assembly|regulation of ARF GTPase activity|signal transduction		ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding			endometrium(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	14						AGAGTCCAGGATCTCAAACTT	0.652													9	24					0	0	1	0	0	G	1235548	A	G	1235548	3	3	81	1	0	0	0	0	1	0	0	0	120	333	12	3	2019	3	ACAP3	1	1235548	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	1535	1235548	248015073	10	3626											
MXRA8	54587	broad.mit.edu	37	1	1289437	1289437	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:1289437G>A	ENST00000477278.2	-	8	1681	c.1168C>T	c.(1168-1170)Ctt>Ttt	p.L390F	MXRA8_ENST00000445648.2_Missense_Mutation_p.L399F|MXRA8_ENST00000309212.6_Missense_Mutation_p.L399F|MXRA8_ENST00000342753.4_Missense_Mutation_p.L298F	NM_001282583.1	NP_001269512.1	Q9BRK3	MXRA8_HUMAN	matrix-remodelling associated 8							integral to membrane				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(3)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		CTCCTGTAAAGCATCTGGTCC	0.642													6	48					0	0	1	0	0	A	1289437	G	A	1289437	3	1	81	1	0	0	0	0	1	0	0	0	10053	971	34	2	145	2	MXRA8	1	1289437	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	53889	1289437	247961184	11	3627											
MXRA8	54587	broad.mit.edu	37	1	1290239	1290239	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:1290239G>A	ENST00000477278.2	-	5	1258	c.745C>T	c.(745-747)Cgt>Tgt	p.R249C	MXRA8_ENST00000445648.2_Missense_Mutation_p.R258C|MXRA8_ENST00000309212.6_Missense_Mutation_p.R258C|MXRA8_ENST00000342753.4_Missense_Mutation_p.R157C	NM_001282583.1	NP_001269512.1	Q9BRK3	MXRA8_HUMAN	matrix-remodelling associated 8		Ig-like V-type 2.					integral to membrane				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(3)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		GGCTCGATACGCAGTGAGAAG	0.677													11	8					0	0	1	0	0	A	1290239	G	A	1290239	3	1	81	1	0	0	0	0	1	0	0	0	10053	1087	38	1	580	1	MXRA8	1	1290239	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	802	1290239	247960382	12	3628											
CCNL2	81669	broad.mit.edu	37	1	1323366	1323366	+	Silent	SNP	G	G	T	rs148355846		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:1323366G>T	ENST00000400809.3	-	9	1091	c.1086C>A	c.(1084-1086)gcC>gcA	p.A362A	CCNL2_ENST00000408952.5_Silent_p.A140A|CCNL2_ENST00000505849.1_5'UTR	NM_030937.4	NP_112199.2	Q96S94	CCNL2_HUMAN	cyclin L2	362					regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nuclear speck	protein kinase binding			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.03e-36)|OV - Ovarian serous cystadenocarcinoma(86;4.17e-22)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.0023)|BRCA - Breast invasive adenocarcinoma(365;0.00465)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.146)		TGGCTTTCTTGGCGCCCTCCA	0.577													11	90					2.80697e-09	3.37799e-09	1	1	0	T	1323366	G	T	1323366	2	4	81	1	0	0	0	0	0	0	0	1	2954	1335	47	5		5	CCNL2	1	1323366	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	33127	1323366	247927255	13	3629											
CCNL2	81669	broad.mit.edu	37	1	1325839	1325839	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:1325839C>A	ENST00000400809.3	-	7	869	c.864G>T	c.(862-864)aaG>aaT	p.K288N	CCNL2_ENST00000408952.5_Splice_Site_p.K66N|CCNL2_ENST00000505849.1_5'UTR	NM_030937.4	NP_112199.2	Q96S94	CCNL2_HUMAN	cyclin L2	288					regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nuclear speck	protein kinase binding			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.03e-36)|OV - Ovarian serous cystadenocarcinoma(86;4.17e-22)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.0023)|BRCA - Breast invasive adenocarcinoma(365;0.00465)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.146)		GCCGAAGAACCTTTTTCCGAG	0.433													27	53					9.04412e-07	1.04362e-06	1	1	0	A	1325839	C	A	1325839	5	1	81	1	0	0	0	0	0	0	1	0	2954	695	24	4	718	4	CCNL2	1	1325839	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2473	1325839	247924782	14	3630											
CCNL2	81669	broad.mit.edu	37	1	1328833	1328833	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:1328833A>T	ENST00000400809.3	-	5	607	c.602T>A	c.(601-603)gTt>gAt	p.V201D	CCNL2_ENST00000408918.4_Missense_Mutation_p.V201D|CCNL2_ENST00000408952.5_5'UTR	NM_030937.4	NP_112199.2	Q96S94	CCNL2_HUMAN	cyclin L2	201	Cyclin-like 2.				regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nuclear speck	protein kinase binding			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.03e-36)|OV - Ovarian serous cystadenocarcinoma(86;4.17e-22)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.0023)|BRCA - Breast invasive adenocarcinoma(365;0.00465)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.146)		AAGGTACATAACGATTATCTG	0.473													27	54					0	0	1	0	0	T	1328833	A	T	1328833	3	4	81	1	0	0	0	0	1	0	0	0	2954	43	2	5	1014	5	CCNL2	1	1328833	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	2994	1328833	247921788	15	3631											
CCNL2	81669	broad.mit.edu	37	1	1334048	1334048	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:1334048C>T	ENST00000400809.3	-	2	297	c.292G>A	c.(292-294)Gcc>Acc	p.A98T	CCNL2_ENST00000408918.4_Missense_Mutation_p.A98T	NM_030937.4	NP_112199.2	Q96S94	CCNL2_HUMAN	cyclin L2	98	Cyclin-like 1.				regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nuclear speck	protein kinase binding			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.03e-36)|OV - Ovarian serous cystadenocarcinoma(86;4.17e-22)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.0023)|BRCA - Breast invasive adenocarcinoma(365;0.00465)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.146)		GTAGCCATGGCCACCTAGAGT	0.517													10	28					0	0	1	0	0	T	1334048	C	T	1334048	3	4	81	1	0	0	0	0	1	0	0	0	2954	739	26	2	1336	2	CCNL2	1	1334048	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	5215	1334048	247916573	16	3632											
VWA1	64856	broad.mit.edu	37	1	1372468	1372468	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:1372468G>A	ENST00000476993.1	+	2	313	c.235G>A	c.(235-237)Ggc>Agc	p.G79S	VWA1_ENST00000404702.3_Intron|VWA1_ENST00000338660.5_Intron	NM_022834.4	NP_073745.2	Q6PCB0	VWA1_HUMAN	von Willebrand factor A domain containing 1	79	VWFA.					basement membrane				NS(1)|breast(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	8	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		GGTGCACGTGGGCAGTCGGCC	0.677													7	12					0	0	1	0	0	A	1372468	G	A	1372468	3	1	81	1	0	0	0	0	1	0	0	0	17298	1232	43	2	241	2	VWA1	1	1372468	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	38420	1372468	247878153	17	3633											
ATAD3C	219293	broad.mit.edu	37	1	1387813	1387813	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:1387813C>T	ENST00000378785.2	+	3	1216	c.221C>T	c.(220-222)aCg>aTg	p.T74M		NM_001039211.2	NP_001034300.2	Q5T2N8	ATD3C_HUMAN	ATPase family, AAA domain containing 3C	74							ATP binding|nucleoside-triphosphatase activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|lung(4)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		GTGACAGCCACGGTAAACATA	0.602													26	41					0	0	1	0	0	T	1387813	C	T	1387813	5	4	81	1	0	0	0	0	0	0	1	0	1074	550	19	1	231	1	ATAD3C	1	1387813	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	15345	1387813	247862808	18	3634											
ATAD3B	83858	broad.mit.edu	37	1	1421506	1421506	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:1421506G>A	ENST00000308647.7	+	10	1096	c.980G>A	c.(979-981)cGg>cAg	p.R327Q		NM_031921.4	NP_114127.3	Q5T9A4	ATD3B_HUMAN	ATPase family, AAA domain containing 3B	327							ATP binding|nucleoside-triphosphatase activity			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)|urinary_tract(1)	10	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		CTGGAAGCACGGGTGCGCGAC	0.662													13	46					0	0	1	0	0	A	1421506	G	A	1421506	3	1	81	1	0	0	0	0	1	0	0	0	1073	1116	39	1	1018	1	ATAD3B	1	1421506	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	33693	1421506	247829115	19	3635											
ATAD3B	83858	broad.mit.edu	37	1	1421519	1421519	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:1421519C>T	ENST00000308647.7	+	10	1109	c.993C>T	c.(991-993)atC>atT	p.I331I		NM_031921.4	NP_114127.3	Q5T9A4	ATD3B_HUMAN	ATPase family, AAA domain containing 3B	331							ATP binding|nucleoside-triphosphatase activity			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)|urinary_tract(1)	10	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		TGCGCGACATCGCCATAGCAA	0.647													13	44					0	0	1	0	0	T	1421519	C	T	1421519	2	4	81	1	0	0	0	0	0	0	0	1	1073	874	31	1		1	ATAD3B	1	1421519	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	13	1421519	247829102	20	3636											
ATAD3B	83858	broad.mit.edu	37	1	1424620	1424620	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:1424620G>A	ENST00000308647.7	+	13	1419	c.1303G>A	c.(1303-1305)Gcc>Acc	p.A435T		NM_031921.4	NP_114127.3	Q5T9A4	ATD3B_HUMAN	ATPase family, AAA domain containing 3B	435							ATP binding|nucleoside-triphosphatase activity			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)|urinary_tract(1)	10	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		CACACTGAACGCCTTCCTGTA	0.597													24	46					0	0	1	0	0	A	1424620	G	A	1424620	3	1	81	1	0	0	0	0	1	0	0	0	1073	1087	38	1	1353	1	ATAD3B	1	1424620	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	3101	1424620	247826001	21	3637											
MIB2	142678	broad.mit.edu	37	1	1558852	1558852	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:1558852C>T	ENST00000357210.4	+	3	410	c.194C>T	c.(193-195)gCg>gTg	p.A65V	MIB2_ENST00000512004.1_3'UTR|MIB2_ENST00000360522.4_Missense_Mutation_p.A65V|MIB2_ENST00000378710.3_Missense_Mutation_p.A65V|MIB2_ENST00000504599.1_Missense_Mutation_p.A21V|MIB2_ENST00000520777.1_Missense_Mutation_p.A122V|MIB2_ENST00000518681.1_Missense_Mutation_p.A122V|MIB2_ENST00000378712.1_Missense_Mutation_p.A7V|MIB2_ENST00000378708.1_Missense_Mutation_p.A7V|MIB2_ENST00000355826.5_Missense_Mutation_p.A108V|MIB2_ENST00000505820.2_Missense_Mutation_p.A122V	NM_080875.2	NP_543151.2	Q96AX9	MIB2_HUMAN	mindbomb E3 ubiquitin protein ligase 2	65	MIB/HERC2 1.				Notch signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade	endosome	actin binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|lung(7)|prostate(4)|upper_aerodigestive_tract(1)	18	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		GACCCCCAGGCGGGCGTGCAG	0.736													4	9					0	0	1	0	0	T	1558852	C	T	1558852	3	4	81	1	0	0	0	0	1	0	0	0	9616	768	27	1	375	1	MIB2	1	1558852	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	134232	1558852	247691769	22	3638											
MIB2	142678	broad.mit.edu	37	1	1560486	1560486	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:1560486C>T	ENST00000357210.4	+	6	1032	c.816C>T	c.(814-816)ggC>ggT	p.G272G	MIB2_ENST00000360522.4_Silent_p.G272G|MIB2_ENST00000378710.3_Silent_p.G272G|MIB2_ENST00000504599.1_Silent_p.G228G|MIB2_ENST00000520777.1_Silent_p.G329G|MIB2_ENST00000518681.1_Intron|MIB2_ENST00000378712.1_Intron|MIB2_ENST00000378708.1_Silent_p.G214G|MIB2_ENST00000355826.5_Silent_p.G315G|MIB2_ENST00000505820.2_Silent_p.G329G	NM_080875.2	NP_543151.2	Q96AX9	MIB2_HUMAN	mindbomb E3 ubiquitin protein ligase 2	272	MIB/HERC2 2.				Notch signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade	endosome	actin binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|lung(7)|prostate(4)|upper_aerodigestive_tract(1)	18	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		ACCGTGTGGGCCACAAGGGCA	0.632													29	45					0	0	1	0	0	T	1560486	C	T	1560486	2	4	81	1	0	0	0	0	0	0	0	1	9616	726	26	2		2	MIB2	1	1560486	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1634	1560486	247690135	23	3639											
MIB2	142678	broad.mit.edu	37	1	1563491	1563491	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:1563491C>T	ENST00000357210.4	+	14	2163	c.1947C>T	c.(1945-1947)atC>atT	p.I649I	MIB2_ENST00000360522.4_Silent_p.I614I|MIB2_ENST00000378710.3_Silent_p.I613I|MIB2_ENST00000504599.1_Silent_p.I605I|MIB2_ENST00000520777.1_Silent_p.I702I|MIB2_ENST00000518681.1_Silent_p.I641I|MIB2_ENST00000378712.1_Silent_p.I526I|MIB2_ENST00000378708.1_Silent_p.I555I|MIB2_ENST00000355826.5_Silent_p.I692I|MIB2_ENST00000505820.2_Silent_p.I706I	NM_080875.2	NP_543151.2	Q96AX9	MIB2_HUMAN	mindbomb E3 ubiquitin protein ligase 2	649					Notch signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade	endosome	actin binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|lung(7)|prostate(4)|upper_aerodigestive_tract(1)	18	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		TGCCAAACATCGATGTTACCG	0.662													10	12					0	0	1	0	0	T	1563491	C	T	1563491	2	4	81	1	0	0	0	0	0	0	0	1	9616	874	31	1		1	MIB2	1	1563491	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3005	1563491	247687130	24	3640											
CDK11B	984	broad.mit.edu	37	1	1575652	1575652	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:1575652G>T	ENST00000407249.3	-	12	1245	c.1246C>A	c.(1246-1248)Ctg>Atg	p.L416M	CDK11B_ENST00000340677.5_Missense_Mutation_p.L403M|CDK11B_ENST00000317673.7_Missense_Mutation_p.L414M|CDK11B_ENST00000341832.6_Missense_Mutation_p.L369M			P21127	CD11B_HUMAN	cyclin-dependent kinase 11B	426					apoptosis|cell proliferation|mitosis|regulation of cell growth|regulation of mRNA processing|regulation of transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity|protein binding			endometrium(2)|large_intestine(3)|lung(4)|skin(1)|stomach(2)	12						AGGGCCGGCAGGTACTTGGGC	0.682													14	15					8.34094e-07	9.62661e-07	1	1	0	T	1575652	G	T	1575652	3	4	81	1	0	0	0	0	1	0	0	0	3149	991	35	4	1151	4	CDK11B	1	1575652	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	12161	1575652	247674969	25	3641											
NADK	65220	broad.mit.edu	37	1	1685602	1685602	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:1685602G>A	ENST00000344463.4	-	12	1645	c.1424C>T	c.(1423-1425)gCg>gTg	p.A475V	NADK_ENST00000341426.5_Missense_Mutation_p.A330V|NADK_ENST00000341991.3_Missense_Mutation_p.A330V|NADK_ENST00000378625.1_Missense_Mutation_p.A475V|NADK_ENST00000342348.5_Missense_Mutation_p.A298V			O95544	NADK_HUMAN	NAD kinase	330					ATP metabolic process|NAD metabolic process|water-soluble vitamin metabolic process	cytosol	ATP binding|metal ion binding|NAD+ kinase activity|protein binding			NS(1)|autonomic_ganglia(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|stomach(1)|urinary_tract(1)	17	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.61e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;8.75e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.33e-23)|GBM - Glioblastoma multiforme(42;1.35e-07)|Colorectal(212;0.000203)|COAD - Colon adenocarcinoma(227;0.000225)|Kidney(185;0.00265)|STAD - Stomach adenocarcinoma(132;0.00655)|BRCA - Breast invasive adenocarcinoma(365;0.00855)|KIRC - Kidney renal clear cell carcinoma(229;0.0382)|Lung(427;0.207)		GGCCCCGGCCGCGGCCGCATA	0.716													6	67					0	0	1	0	0	A	1685602	G	A	1685602	3	1	81	1	0	0	0	0	1	0	0	0	10185	1087	38	1	363	1	NADK	1	1685602	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	109950	1685602	247565019	26	3642											
GNB1	2782	broad.mit.edu	37	1	1722020	1722020	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:1722020G>A	ENST00000378609.4	-	9	844	c.513C>T	c.(511-513)atC>atT	p.I171I		NM_001282539.1|NM_002074.3	NP_001269468.1|NP_002065.1	P62873	GBB1_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 1	171					cellular response to glucagon stimulus|energy reserve metabolic process|muscarinic acetylcholine receptor signaling pathway|platelet activation|Ras protein signal transduction|synaptic transmission	heterotrimeric G-protein complex	GTPase activity|GTPase binding|signal transducer activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	12	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.62e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;1.14e-35)|OV - Ovarian serous cystadenocarcinoma(86;7.31e-23)|GBM - Glioblastoma multiforme(42;3.1e-07)|COAD - Colon adenocarcinoma(227;0.000323)|Colorectal(212;0.000374)|Kidney(185;0.00392)|BRCA - Breast invasive adenocarcinoma(365;0.00573)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.0482)|Lung(427;0.236)		GGCCGGTCTCGATGTCCCACA	0.542													3	16					0	0	1	0	0	A	1722020	G	A	1722020	2	1	81	1	0	0	0	0	0	0	0	1	6557	1048	37	1		1	GNB1	1	1722020	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	36418	1722020	247528601	27	3643											
TMEM52	339456	broad.mit.edu	37	1	1849365	1849365	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:1849365C>A	ENST00000378602.3	-	2	781	c.541G>T	c.(541-543)Ggc>Tgc	p.G181C	TMEM52_ENST00000310991.3_Missense_Mutation_p.G196C			Q8NDY8	TMM52_HUMAN	transmembrane protein 52	196						integral to membrane				NS(1)|prostate(1)|stomach(1)	3	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.82e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.75e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		GTATTGGGGCCCGACTCCTGG	0.612													10	109					0.010729	0.0111384	1	1	0	A	1849365	C	A	1849365	3	1	81	1	0	0	0	0	1	0	0	0	16238	623	22	5	47	5	TMEM52	1	1849365	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	127345	1849365	247401256	28	3644											
GABRD	2563	broad.mit.edu	37	1	1957156	1957156	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:1957156G>A	ENST00000378585.4	+	4	532	c.449G>A	c.(448-450)gGc>gAc	p.G150D		NM_000815.4	NP_000806.2	O14764	GBRD_HUMAN	gamma-aminobutyric acid (GABA) A receptor, delta	150						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			central_nervous_system(2)|endometrium(3)|kidney(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;2.7e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.17e-24)|GBM - Glioblastoma multiforme(42;9.56e-08)|Colorectal(212;4.12e-05)|COAD - Colon adenocarcinoma(227;0.000194)|Kidney(185;0.00231)|BRCA - Breast invasive adenocarcinoma(365;0.00441)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)		CAGCCCGACGGCGTGATCCTG	0.677													21	22					0	0	1	0	0	A	1957156	G	A	1957156	3	1	81	1	0	0	0	0	1	0	0	0	6204	1203	42	2	463	2	GABRD	1	1957156	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	107791	1957156	247293465	29	3645											
GABRD	2563	broad.mit.edu	37	1	1961455	1961455	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:1961455C>A	ENST00000378585.4	+	9	1176	c.1093C>A	c.(1093-1095)Ctc>Atc	p.L365I		NM_000815.4	NP_000806.2	O14764	GBRD_HUMAN	gamma-aminobutyric acid (GABA) A receptor, delta	365						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			central_nervous_system(2)|endometrium(3)|kidney(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;2.7e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.17e-24)|GBM - Glioblastoma multiforme(42;9.56e-08)|Colorectal(212;4.12e-05)|COAD - Colon adenocarcinoma(227;0.000194)|Kidney(185;0.00231)|BRCA - Breast invasive adenocarcinoma(365;0.00441)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)		CCTCTTCTCCCTCTCTGCTGC	0.692													7	29					3.09899e-07	3.60815e-07	1	1	0	A	1961455	C	A	1961455	3	1	81	1	0	0	0	0	1	0	0	0	6204	681	24	4	1127	4	GABRD	1	1961455	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	4299	1961455	247289166	30	3646											
C1orf86	199990	broad.mit.edu	37	1	2125253	2125253	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:2125253G>A	ENST00000378545.3	-	4	603	c.604C>T	c.(604-606)Cgt>Tgt	p.R202C	C1orf86_ENST00000400919.3_5'UTR|C1orf86_ENST00000487186.1_5'UTR|C1orf86_ENST00000378546.4_Missense_Mutation_p.R99C	NM_001282670.1	NP_001269599.1	Q6NZ36	CA086_HUMAN	chromosome 1 open reading frame 86	99										central_nervous_system(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4	all_cancers(77;0.000134)|all_epithelial(69;4.45e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;1.14e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;1.09e-37)|OV - Ovarian serous cystadenocarcinoma(86;1.5e-23)|GBM - Glioblastoma multiforme(42;1.61e-08)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00437)|STAD - Stomach adenocarcinoma(132;0.0134)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)		CGGTAGGAACGGCCCGGGCCC	0.706													18	25					0	0	1	0	0	A	2125253	G	A	2125253	3	1	81	1	0	0	0	0	1	0	0	0	2077	1116	39	1	495	1	C1orf86	1	2125253	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	163798	2125253	247125368	31	3647											
MORN1	79906	broad.mit.edu	37	1	2288928	2288928	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:2288928G>T	ENST00000378531.3	-	10	1152	c.979C>A	c.(979-981)Ctg>Atg	p.L327M	MORN1_ENST00000606372.1_5'UTR|MORN1_ENST00000378529.3_Missense_Mutation_p.L327M	NM_024848.1	NP_079124.1	Q5T089	MORN1_HUMAN	MORN repeat containing 1	327										breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(1)|ovary(2)	9	all_cancers(77;0.000194)|all_epithelial(69;9.96e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.3e-15)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;2.21e-37)|OV - Ovarian serous cystadenocarcinoma(86;5.01e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.00137)|BRCA - Breast invasive adenocarcinoma(365;0.00488)|STAD - Stomach adenocarcinoma(132;0.00665)|KIRC - Kidney renal clear cell carcinoma(229;0.0203)|Lung(427;0.212)		TGCAGCTCCAGGTCTCCCCTG	0.672													23	58					3.7963e-18	4.91491e-18	1	1	0	T	2288928	G	T	2288928	3	4	81	1	0	0	0	0	1	0	0	0	9757	991	35	4	534	4	MORN1	1	2288928	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	163675	2288928	246961693	32	3648											
MORN1	79906	broad.mit.edu	37	1	2318951	2318951	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:2318951G>A	ENST00000378531.3	-	4	438	c.265C>T	c.(265-267)Cag>Tag	p.Q89*	MORN1_ENST00000606372.1_5'UTR|MORN1_ENST00000378529.3_Nonsense_Mutation_p.Q89*	NM_024848.1	NP_079124.1	Q5T089	MORN1_HUMAN	MORN repeat containing 1	89										breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(1)|ovary(2)	9	all_cancers(77;0.000194)|all_epithelial(69;9.96e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.3e-15)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;2.21e-37)|OV - Ovarian serous cystadenocarcinoma(86;5.01e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.00137)|BRCA - Breast invasive adenocarcinoma(365;0.00488)|STAD - Stomach adenocarcinoma(132;0.00665)|KIRC - Kidney renal clear cell carcinoma(229;0.0203)|Lung(427;0.212)		AGAACAAACTGTCCAGAGAAG	0.612													17	44					0	0	1	0	0	A	2318951	G	A	2318951	4	1	81	1	0	0	0	0	0	1	0	0	9757	1386	48	2	1272	2	MORN1	1	2318951	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	30023	2318951	246931670	33	3649											
RER1	11079	broad.mit.edu	37	1	2328570	2328570	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:2328570C>T	ENST00000605895.1	+	3	230	c.97C>T	c.(97-99)Cta>Tta	p.L33L	RER1_ENST00000488353.1_Silent_p.L33L|RER1_ENST00000378518.1_Silent_p.L33L|RER1_ENST00000378512.1_Silent_p.L33L|RER1_ENST00000378513.3_Silent_p.L33L	NM_007033.4	NP_008964.3	O15258	RER1_HUMAN	retention in endoplasmic reticulum sorting receptor 1	33					retrograde vesicle-mediated transport, Golgi to ER	integral to Golgi membrane				endometrium(3)|kidney(1)	4	all_cancers(77;0.000247)|all_epithelial(69;9.96e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;5.35e-20)|all_lung(118;2.78e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.28e-37)|OV - Ovarian serous cystadenocarcinoma(86;8.29e-23)|GBM - Glioblastoma multiforme(42;4.71e-08)|Colorectal(212;4.73e-05)|COAD - Colon adenocarcinoma(227;0.00021)|Kidney(185;0.00116)|BRCA - Breast invasive adenocarcinoma(365;0.00459)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0182)|Lung(427;0.204)		TCAGTCCTGGCTAGACAAGTC	0.502													24	52					0	0	1	0	0	T	2328570	C	T	2328570	2	4	81	1	0	0	0	0	0	0	0	1	13282	796	28	2		2	RER1	1	2328570	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	9619	2328570	246922051	34	3650											
PEX10	5192	broad.mit.edu	37	1	2340118	2340118	+	Nonsense_Mutation	SNP	G	G	A	rs61750434		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:2340118G>A	ENST00000288774.3	-	3	400	c.373C>T	c.(373-375)Cga>Tga	p.R125*	PEX10_ENST00000447513.2_Nonsense_Mutation_p.R125*|PEX10_ENST00000507596.1_Nonsense_Mutation_p.R125*|PEX10_ENST00000515760.1_5'UTR	NM_153818.1	NP_722540.1	O60683	PEX10_HUMAN	peroxisomal biogenesis factor 10	125					protein import into peroxisome matrix	integral to peroxisomal membrane|peroxisomal membrane	protein binding|protein C-terminus binding|zinc ion binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(2)	7	all_cancers(77;0.000247)|all_epithelial(69;9.96e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;5.35e-20)|all_lung(118;2.78e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;1.1e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.02e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00102)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0169)|Lung(427;0.199)		TGCAAGGGTCGCCCACTGTCG	0.706													4	13					0	0	1	0	0	A	2340118	G	A	2340118	4	1	81	1	0	0	0	0	0	1	0	0	11784	1095	38	1	683	1	PEX10	1	2340118	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	11548	2340118	246910503	35	3651											
PLCH2	9651	broad.mit.edu	37	1	2411398	2411398	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:2411398G>A	ENST00000449969.1	+	3	577	c.416G>A	c.(415-417)cGc>cAc	p.R139H	PLCH2_ENST00000378488.3_Missense_Mutation_p.R166H|PLCH2_ENST00000419816.2_Missense_Mutation_p.R166H|PLCH2_ENST00000288766.5_Intron|PLCH2_ENST00000378486.3_Missense_Mutation_p.R166H			O75038	PLCH2_HUMAN	phospholipase C, eta 2	166	Necessary for plasma membrane localization (By similarity).|PH.				intracellular signal transduction|lipid catabolic process	cytoplasm|plasma membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(3)|skin(1)	20	all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2)		CTGGCTCGCCGCCAGCGCACC	0.687													17	23					0	0	1	0	0	A	2411398	G	A	2411398	3	1	81	1	0	0	0	0	1	0	0	0	12086	1087	38	1	507	1	PLCH2	1	2411398	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	71280	2411398	246839223	36	3652											
PLCH2	9651	broad.mit.edu	37	1	2418794	2418794	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:2418794G>A	ENST00000449969.1	+	7	1173	c.1012G>A	c.(1012-1014)Gct>Act	p.A338T	PLCH2_ENST00000378488.3_Missense_Mutation_p.A365T|PLCH2_ENST00000419816.2_Missense_Mutation_p.A365T|PLCH2_ENST00000288766.5_Intron|PLCH2_ENST00000378486.3_Missense_Mutation_p.A365T			O75038	PLCH2_HUMAN	phospholipase C, eta 2	365	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process	cytoplasm|plasma membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(3)|skin(1)	20	all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2)		GGTCCTGCAGGCTGGCTGCCG	0.647													4	7					0	0	1	0	0	A	2418794	G	A	2418794	3	1	81	1	0	0	0	0	1	0	0	0	12086	1203	42	2	1119	2	PLCH2	1	2418794	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	7396	2418794	246831827	37	3653											
PANK4	55229	broad.mit.edu	37	1	2452612	2452612	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:2452612G>T	ENST00000378466.3	-	3	362	c.350C>A	c.(349-351)aCc>aAc	p.T117N	PANK4_ENST00000435556.3_Missense_Mutation_p.T117N	NM_018216.1	NP_060686.1	Q9NVE7	PANK4_HUMAN	pantothenate kinase 4	117					coenzyme A biosynthetic process	cytoplasm	ATP binding|pantothenate kinase activity			breast(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	23	all_cancers(77;0.000158)|all_epithelial(69;8.01e-05)|all_lung(157;0.0212)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.18e-20)|all_lung(118;1.67e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;1.54e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.95e-23)|GBM - Glioblastoma multiforme(42;2.81e-08)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.00445)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)		GATGACCTTGGTCTCTGTGTT	0.522													10	103					2.32078e-09	2.80257e-09	1	1	0	T	2452612	G	T	2452612	3	4	81	1	0	0	0	0	1	0	0	0	11466	1261	44	5	2039	5	PANK4	1	2452612	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	33818	2452612	246798009	38	3654											
MMEL1	79258	broad.mit.edu	37	1	2522446	2522446	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:2522446G>A	ENST00000288709.6	-	24	2536	c.2296C>T	c.(2296-2298)Cga>Tga	p.R766*	FAM213B_ENST00000484099.1_3'UTR|FAM213B_ENST00000378425.5_3'UTR|MMEL1_ENST00000378412.3_Nonsense_Mutation_p.R775*|MMEL1_ENST00000502556.1_Nonsense_Mutation_p.R618*|FAM213B_ENST00000419916.2_3'UTR|FAM213B_ENST00000444521.2_3'UTR|FAM213B_ENST00000378424.4_3'UTR	NM_033467.3	NP_258428.2	Q495T6	MMEL1_HUMAN	membrane metallo-endopeptidase-like 1	775					proteolysis	extracellular region|integral to membrane|intracellular membrane-bounded organelle	metal ion binding|metalloendopeptidase activity			cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1)	27	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)		ACGCGGCATCGCTCCTTGGGG	0.701													6	7					0	0	1	0	0	A	2522446	G	A	2522446	4	1	81	1	0	0	0	0	0	1	0	0	9694	1095	38	1	20	1	MMEL1	1	2522446	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	69834	2522446	246728175	39	3655											
ACTRT2	140625	broad.mit.edu	37	1	2938559	2938559	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:2938559C>T	ENST00000378404.2	+	1	514	c.309C>T	c.(307-309)agC>agT	p.S103S		NM_080431.4	NP_536356.3	Q8TDY3	ACTT2_HUMAN	actin-related protein T2	103						cytoplasm|cytoskeleton				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909)	all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125)		TGAAACCCAGCGACCAGCCCC	0.597													23	35					0	0	1	0	0	T	2938559	C	T	2938559	2	4	81	1	0	0	0	0	0	0	0	1	218	767	27	1		1	ACTRT2	1	2938559	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	416113	2938559	246312062	40	3656											
ACTRT2	140625	broad.mit.edu	37	1	2938692	2938692	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:2938692G>A	ENST00000378404.2	+	1	647	c.442G>A	c.(442-444)Gcc>Acc	p.A148T		NM_080431.4	NP_536356.3	Q8TDY3	ACTT2_HUMAN	actin-related protein T2	148						cytoplasm|cytoskeleton				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909)	all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125)		GGCTCTCTACGCCTCTGCCTG	0.617													15	26					0	0	1	0	0	A	2938692	G	A	2938692	3	1	81	1	0	0	0	0	1	0	0	0	218	1087	38	1	444	1	ACTRT2	1	2938692	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	133	2938692	246311929	41	3657											
PRDM16	63976	broad.mit.edu	37	1	3102694	3102694	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:3102694G>A	ENST00000378398.3	+	2	125	c.43G>A	c.(43-45)Ggt>Agt	p.G15S	PRDM16_ENST00000270722.5_Missense_Mutation_p.G15S|PRDM16_ENST00000511072.1_Missense_Mutation_p.G15S|PRDM16_ENST00000442529.2_Missense_Mutation_p.G15S|PRDM16_ENST00000514189.1_Missense_Mutation_p.G15S|PRDM16_ENST00000441472.2_Missense_Mutation_p.G15S|PRDM16_ENST00000378391.2_Missense_Mutation_p.G15S			Q9HAZ2	PRD16_HUMAN	PR domain containing 16	15					brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		TTTAGGTGACGGTGACGTTGT	0.622			T	EVI1	"MDS, AML"								18	35					0	0	1	0	0	A	3102694	G	A	3102694	3	1	81	1	0	0	0	0	1	0	0	0	12509	1116	39	1	49	1	PRDM16	1	3102694	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	164002	3102694	246147927	42	3658											
PRDM16	63976	broad.mit.edu	37	1	3322124	3322124	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:3322124C>T	ENST00000378398.3	+	9	1183	c.1101C>T	c.(1099-1101)caC>caT	p.H367H	PRDM16_ENST00000270722.5_Silent_p.H366H|PRDM16_ENST00000512462.1_3'UTR|PRDM16_ENST00000511072.1_Silent_p.H367H|PRDM16_ENST00000442529.2_Silent_p.H366H|PRDM16_ENST00000514189.1_Silent_p.H367H|PRDM16_ENST00000441472.2_Silent_p.H366H|PRDM16_ENST00000378391.2_Silent_p.H366H			Q9HAZ2	PRD16_HUMAN	PR domain containing 16	366					brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		CTCGGGCCCACGCCTGCCCCG	0.662			T	EVI1	"MDS, AML"								12	18					0	0	1	0	0	T	3322124	C	T	3322124	2	4	81	1	0	0	0	0	0	0	0	1	12509	535	19	1		1	PRDM16	1	3322124	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	219430	3322124	245928497	43	3659											
ARHGEF16	27237	broad.mit.edu	37	1	3395175	3395175	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:3395175G>A	ENST00000378378.4	+	12	2218	c.1813G>A	c.(1813-1815)Gcg>Acg	p.A605T	ARHGEF16_ENST00000378371.2_Splice_Site_p.A317T|ARHGEF16_ENST00000413250.2_Splice_Site_p.A309T|ARHGEF16_ENST00000378373.1_Splice_Site_p.A317T	NM_014448.3	NP_055263.2	Q5VV41	ARHGG_HUMAN	Rho guanine nucleotide exchange factor (GEF) 16	605	PH.				activation of Cdc42 GTPase activity|activation of Rac GTPase activity|apoptosis|cell chemotaxis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|small GTPase mediated signal transduction	cytosol	PDZ domain binding|receptor tyrosine kinase binding|Rho GTPase binding|Rho guanyl-nucleotide exchange factor activity			lung(6)|ovary(1)	7	all_cancers(77;0.00276)|all_epithelial(69;0.00102)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.101)	all_epithelial(116;7.14e-21)|all_lung(118;2.24e-08)|Lung NSC(185;3.55e-06)|Breast(487;0.000765)|Renal(390;0.00121)|Hepatocellular(190;0.0046)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.211)		Epithelial(90;8.62e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.62e-22)|GBM - Glioblastoma multiforme(42;2.49e-12)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000681)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)		CTCGGACTCCGCGTAAGTGGG	0.682													10	15					0	0	1	0	0	A	3395175	G	A	3395175	5	1	81	1	0	0	0	0	0	0	1	0	896	1101	38	1	1855	1	ARHGEF16	1	3395175	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	73051	3395175	245855446	44	3660											
MEGF6	1953	broad.mit.edu	37	1	3428618	3428618	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:3428618C>T	ENST00000356575.4	-	8	1154	c.928G>A	c.(928-930)Gtg>Atg	p.V310M	MEGF6_ENST00000294599.4_Missense_Mutation_p.V205M	NM_001409.3	NP_001400.3	O75095	MEGF6_HUMAN	multiple EGF-like-domains 6	310	EGF-like 5; calcium-binding (Potential).					extracellular region	calcium ion binding			cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)		GCGTGACACACGCACTTGAAG	0.667													38	49					0	0	1	0	0	T	3428618	C	T	3428618	3	4	81	1	0	0	0	0	1	0	0	0	9512	536	19	1	3817	1	MEGF6	1	3428618	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	33443	3428618	245822003	45	3661											
TPRG1L	127262	broad.mit.edu	37	1	3545130	3545130	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:3545130T>C	ENST00000378344.2	+	5	853	c.782T>C	c.(781-783)cTg>cCg	p.L261P	TPRG1L_ENST00000344579.5_Missense_Mutation_p.L202P	NM_182752.3	NP_877429.2	Q5T0D9	TPRGL_HUMAN	tumor protein p63 regulated 1-like	261						cell junction|synaptic vesicle				endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|prostate(1)	8	all_cancers(77;0.0119)|all_epithelial(69;0.00481)|Ovarian(185;0.0634)|Lung NSC(156;0.162)|all_lung(157;0.172)	all_epithelial(116;7.37e-22)|all_lung(118;8.23e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.41e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.83e-22)|GBM - Glioblastoma multiforme(42;4.77e-14)|Colorectal(212;1.12e-05)|COAD - Colon adenocarcinoma(227;5.61e-05)|Kidney(185;0.000351)|BRCA - Breast invasive adenocarcinoma(365;0.000688)|KIRC - Kidney renal clear cell carcinoma(229;0.00553)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.201)		GAGGCGAAACTGGGCTACTCC	0.602													14	24					0	0	1	0	0	C	3545130	T	C	3545130	3	2	81	1	0	0	0	0	1	0	0	0	16480	1580	55	3	800	3	TPRG1L	1	3545130	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	116512	3545130	245705491	46	3662											
LRRC47	57470	broad.mit.edu	37	1	3703680	3703680	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:3703680G>A	ENST00000378251.1	-	2	837	c.810C>T	c.(808-810)ggC>ggT	p.G270G		NM_020710.2	NP_065761.1	Q8N1G4	LRC47_HUMAN	leucine rich repeat containing 47	270					translation		phenylalanine-tRNA ligase activity|RNA binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	17	all_cancers(77;0.0375)|Ovarian(185;0.0634)|all_lung(157;0.208)|Lung NSC(156;0.21)	all_epithelial(116;1.34e-16)|all_lung(118;2.53e-06)|Lung NSC(185;0.00028)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.0743)|Ovarian(437;0.127)		Epithelial(90;5.49e-39)|OV - Ovarian serous cystadenocarcinoma(86;1.43e-22)|GBM - Glioblastoma multiforme(42;3.69e-16)|Colorectal(212;1.21e-05)|COAD - Colon adenocarcinoma(227;5.87e-05)|Kidney(185;0.000367)|BRCA - Breast invasive adenocarcinoma(365;0.000704)|KIRC - Kidney renal clear cell carcinoma(229;0.00567)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.124)		CCTCGGCACGGCCCTTGCCCT	0.657													12	23					0	0	1	0	0	A	3703680	G	A	3703680	2	1	81	1	0	0	0	0	0	0	0	1	9049	1190	42	2		2	LRRC47	1	3703680	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	158550	3703680	245546941	47	3663											
LRRC47	57470	broad.mit.edu	37	1	3703769	3703769	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:3703769G>A	ENST00000378251.1	-	2	748	c.721C>T	c.(721-723)Cgc>Tgc	p.R241C		NM_020710.2	NP_065761.1	Q8N1G4	LRC47_HUMAN	leucine rich repeat containing 47	241					translation		phenylalanine-tRNA ligase activity|RNA binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	17	all_cancers(77;0.0375)|Ovarian(185;0.0634)|all_lung(157;0.208)|Lung NSC(156;0.21)	all_epithelial(116;1.34e-16)|all_lung(118;2.53e-06)|Lung NSC(185;0.00028)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.0743)|Ovarian(437;0.127)		Epithelial(90;5.49e-39)|OV - Ovarian serous cystadenocarcinoma(86;1.43e-22)|GBM - Glioblastoma multiforme(42;3.69e-16)|Colorectal(212;1.21e-05)|COAD - Colon adenocarcinoma(227;5.87e-05)|Kidney(185;0.000367)|BRCA - Breast invasive adenocarcinoma(365;0.000704)|KIRC - Kidney renal clear cell carcinoma(229;0.00567)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.124)		TTCTCCAGGCGCTTGTCCCTC	0.632													20	18					0	0	1	0	0	A	3703769	G	A	3703769	3	1	81	1	0	0	0	0	1	0	0	0	9049	1087	38	1	1054	1	LRRC47	1	3703769	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	89	3703769	245546852	48	3664											
DFFB	1677	broad.mit.edu	37	1	3782428	3782428	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:3782428G>A	ENST00000378209.3	+	3	617	c.294G>A	c.(292-294)ggG>ggA	p.G98G	DFFB_ENST00000338895.3_Silent_p.G98G	NM_004402.2	NP_004393.1	O76075	DFFB_HUMAN	DNA fragmentation factor, 40kDa, beta polypeptide (caspase-activated DNase)	98					apoptotic chromosome condensation|DNA fragmentation involved in apoptotic nuclear change|intracellular signal transduction	cytosol|nucleoplasm	deoxyribonuclease activity|enzyme binding			endometrium(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	all_cancers(77;0.0395)|Ovarian(185;0.0634)|all_lung(157;0.222)|Lung NSC(156;0.227)	all_cancers(23;2.05e-30)|all_epithelial(116;6.22e-21)|all_lung(118;2.65e-08)|Lung NSC(185;6.25e-06)|Breast(487;0.000659)|Renal(390;0.00121)|all_neural(13;0.0019)|Hepatocellular(190;0.00705)|Colorectal(325;0.0113)|all_hematologic(16;0.0194)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0548)|Medulloblastoma(700;0.211)		Epithelial(90;1.18e-39)|OV - Ovarian serous cystadenocarcinoma(86;7.28e-23)|GBM - Glioblastoma multiforme(42;2.95e-17)|Colorectal(212;1.23e-05)|COAD - Colon adenocarcinoma(227;5.94e-05)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00038)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.124)		CACAGGTGGGGCTCATCCAGG	0.607													20	20					0	0	1	0	0	A	3782428	G	A	3782428	2	1	81	1	0	0	0	0	0	0	0	1	4481	1190	42	2		2	DFFB	1	3782428	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	78659	3782428	245468193	49	3665											
NPHP4	261734	broad.mit.edu	37	1	5965469	5965469	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:5965469T>G	ENST00000378156.4	-	15	2103	c.1838A>C	c.(1837-1839)aAt>aCt	p.N613T	NPHP4_ENST00000478423.2_5'UTR	NM_015102.3	NP_055917.1	O75161	NPHP4_HUMAN	nephronophthisis 4	613					actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior	cell-cell junction|centrosome|cilium|microtubule basal body	protein binding|structural molecule activity			NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4)	47	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)		TGGCTGTTTATTGGCATCCAG	0.547													7	59					0	0	1	0	0	G	5965469	T	G	5965469	3	3	81	1	0	0	0	0	1	0	0	0	10628	1493	52	4	2506	4	NPHP4	1	5965469	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	2183041	5965469	243285152	50	3666											
KCNAB2	8514	broad.mit.edu	37	1	6154464	6154464	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:6154464C>T	ENST00000164247.1	+	11	1071	c.507C>T	c.(505-507)acC>acT	p.T169T	KCNAB2_ENST00000378087.3_Intron|KCNAB2_ENST00000352527.1_Silent_p.T155T|KCNAB2_ENST00000341524.1_Silent_p.T169T|KCNAB2_ENST00000378097.1_Silent_p.T169T|KCNAB2_ENST00000602612.1_Silent_p.T169T|KCNAB2_ENST00000378083.3_Silent_p.T217T|KCNAB2_ENST00000458166.2_Silent_p.T102T|KCNAB2_ENST00000378092.1_Silent_p.T155T|KCNAB2_ENST00000378111.1_Intron	NM_001199860.1	NP_001186789.1	Q13303	KCAB2_HUMAN	potassium voltage-gated channel, shaker-related subfamily, beta member 2	169						cytoplasm|integral to membrane|juxtaparanode region of axon	oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity			large_intestine(1)|lung(4)|skin(3)	8	Ovarian(185;0.0634)	all_cancers(23;5.85e-39)|all_epithelial(116;4.88e-22)|all_lung(118;4.21e-08)|Lung NSC(185;9.77e-07)|all_hematologic(16;2.78e-06)|all_neural(13;3.18e-06)|Acute lymphoblastic leukemia(12;0.000272)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00106)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0393)|Medulloblastoma(700;0.211)		Epithelial(90;6.9e-37)|GBM - Glioblastoma multiforme(13;8.8e-31)|OV - Ovarian serous cystadenocarcinoma(86;1.45e-19)|Colorectal(212;2.46e-07)|COAD - Colon adenocarcinoma(227;2.07e-05)|Kidney(185;7.88e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00131)|BRCA - Breast invasive adenocarcinoma(365;0.00133)|STAD - Stomach adenocarcinoma(132;0.00391)|READ - Rectum adenocarcinoma(331;0.0649)		CGACAGAGACCGTCCGCGCCA	0.637													4	6					0	0	1	0	0	T	6154464	C	T	6154464	2	4	81	1	0	0	0	0	0	0	0	1	8054	639	23	1		1	KCNAB2	1	6154464	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	188995	6154464	243096157	51	3667											
CHD5	26038	broad.mit.edu	37	1	6171834	6171834	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:6171834C>T	ENST00000262450.3	-	36	5349		c.e36+1		CHD5_ENST00000378021.1_Splice_Site	NM_015557.2	NP_056372.1	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5						chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		GCCAAGGATACGTCACGATGC	0.647													5	24					0	0	1	0	0	T	6171834	C	T	6171834	5	4	81	1	0	0	0	0	0	0	1	0	3350	550	19	1	638	1	CHD5	1	6171834	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	17370	6171834	243078787	52	3668											
CHD5	26038	broad.mit.edu	37	1	6173015	6173015	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:6173015C>A	ENST00000262450.3	-	34	5055	c.4956G>T	c.(4954-4956)gaG>gaT	p.E1652D	CHD5_ENST00000378021.1_Missense_Mutation_p.E509D	NM_015557.2	NP_056372.1	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	1652					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		TCAAGCTCAGCTCCAGCTTGT	0.577													29	46					2.85442e-18	3.69892e-18	1	1	0	A	6173015	C	A	6173015	3	1	81	1	0	0	0	0	1	0	0	0	3350	796	28	4	940	4	CHD5	1	6173015	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1181	6173015	243077606	53	3669											
ESPN	83715	broad.mit.edu	37	1	6520200	6520200	+	Missense_Mutation	SNP	G	G	T	rs141783157	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:6520200G>T	ENST00000377828.1	+	13	2727	c.2559G>T	c.(2557-2559)aaG>aaT	p.K853N	ESPN_ENST00000461727.1_Missense_Mutation_p.K287N|ESPN_ENST00000416731.1_Missense_Mutation_p.K287N	NM_031475.2	NP_113663.2	B1AK53	ESPN_HUMAN	espin	853					sensory perception of sound	brush border|cytoplasm|filamentous actin|stereocilium	actin filament binding|SH3 domain binding			NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)	17	Ovarian(185;0.0386)|all_lung(157;0.154)	all_cancers(23;3.6e-37)|all_epithelial(116;2.56e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|all_hematologic(16;6.92e-06)|Colorectal(325;4.47e-05)|Acute lymphoblastic leukemia(12;4.92e-05)|Breast(487;7.61e-05)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)		Epithelial(90;1.82e-35)|GBM - Glioblastoma multiforme(13;3e-28)|Kidney(185;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(229;5.63e-08)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;1.41e-05)|BRCA - Breast invasive adenocarcinoma(365;0.000109)|STAD - Stomach adenocarcinoma(132;0.00167)|Lung(427;0.0108)|LUSC - Lung squamous cell carcinoma(448;0.0253)|READ - Rectum adenocarcinoma(331;0.0419)		ACATCGCTAAGTACTAGAGGC	0.662													4	31					0.184627	0.18622	1	1	0	T	6520200	G	T	6520200	3	4	81	1	0	0	0	0	1	0	0	0	5282	1020	36	4	2609	4	ESPN	1	6520200	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	347185	6520200	242730421	54	3670											
PLEKHG5	57449	broad.mit.edu	37	1	6532586	6532586	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:6532586C>T	ENST00000377748.1	-	11	1809		c.e11+1		PLEKHG5_ENST00000537245.1_Splice_Site|PLEKHG5_ENST00000535355.1_Splice_Site|PLEKHG5_ENST00000340850.5_Splice_Site|PLEKHG5_ENST00000400913.1_Splice_Site|PLEKHG5_ENST00000377740.3_Splice_Site|PLEKHG5_ENST00000377732.1_Splice_Site|PLEKHG5_ENST00000377725.1_Splice_Site|PLEKHG5_ENST00000544978.1_Splice_Site|PLEKHG5_ENST00000377728.3_Splice_Site|PLEKHG5_ENST00000377737.2_Splice_Site|PLEKHG5_ENST00000400915.3_Splice_Site	NM_198681.3	NP_941374.2	O94827	PKHG5_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 5						apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm	Rho guanyl-nucleotide exchange factor activity|signal transducer activity			liver(1)	1	Ovarian(185;0.02)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419)		CCCCTACTCACGTTGATGATC	0.642													3	17					0	0	1	0	0	T	6532586	C	T	6532586	5	4	81	1	0	0	0	0	0	0	1	0	12121	550	19	1	1987	1	PLEKHG5	1	6532586	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	12386	6532586	242718035	55	3671											
KLHL21	9903	broad.mit.edu	37	1	6653596	6653596	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:6653596G>A	ENST00000377658.4	-	4	1674	c.1623C>T	c.(1621-1623)agC>agT	p.S541S	KLHL21_ENST00000377663.3_3'UTR|KLHL21_ENST00000467612.1_Silent_p.S174S	NM_014851.2	NP_055666.2	Q9UJP4	KLH21_HUMAN	kelch-like family member 21	541					anaphase|cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex|cytoplasm|polar microtubule				central_nervous_system(1)|endometrium(1)|kidney(1)|lung(3)|prostate(2)	8	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;7.39e-28)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;1.36e-07)|COAD - Colon adenocarcinoma(227;1.4e-05)|Kidney(185;4.95e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000528)|KIRC - Kidney renal clear cell carcinoma(229;0.000927)|STAD - Stomach adenocarcinoma(132;0.0172)|READ - Rectum adenocarcinoma(331;0.0644)		GCCCCACCACGCTCCACGCGC	0.612													12	21					0	0	1	0	0	A	6653596	G	A	6653596	2	1	81	1	0	0	0	0	0	0	0	1	8419	1078	38	1		1	KLHL21	1	6653596	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	121010	6653596	242597025	56	3672											
PHF13	148479	broad.mit.edu	37	1	6680296	6680297	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:6680296_6680297insA	ENST00000377648.4	+	3	957_958	c.575_576insA	c.(574-579)ataaaafs	p.IK192fs	PHF13_ENST00000495385.1_Intron	NM_153812.2	NP_722519.2	Q86YI8	PHF13_HUMAN	PHD finger protein 13	192					cell division|chromatin modification|mitotic chromosome condensation	nucleoplasm	chromatin binding|methylated histone residue binding|zinc ion binding			endometrium(3)|large_intestine(1)|lung(3)	7	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;1.46e-33)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.19e-07)|COAD - Colon adenocarcinoma(227;1.3e-05)|Kidney(185;4.88e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000501)|KIRC - Kidney renal clear cell carcinoma(229;0.000871)|STAD - Stomach adenocarcinoma(132;0.0165)|READ - Rectum adenocarcinoma(331;0.0642)		GTCAAAGAAATAAAAACTGAAG	0.554													11	23	---	---	---	---						A	6680297	-	A	6680296	7	5	81	1	0	1	1	0	0	0	0	0	11872	1406	49	0	585	0	PHF13	1	6680296	Frame_Shift_Ins	INS	-	TCGA-DU-6392-01A-11D-1705-08	26700	6680296	242570325	57	3673											
PHF13	148479	broad.mit.edu	37	1	6681484	6681484	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:6681484G>A	ENST00000377648.4	+	4	1072	c.690G>A	c.(688-690)tgG>tgA	p.W230*	PHF13_ENST00000495385.1_Intron	NM_153812.2	NP_722519.2	Q86YI8	PHF13_HUMAN	PHD finger protein 13	230					cell division|chromatin modification|mitotic chromosome condensation	nucleoplasm	chromatin binding|methylated histone residue binding|zinc ion binding			endometrium(3)|large_intestine(1)|lung(3)	7	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;1.46e-33)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.19e-07)|COAD - Colon adenocarcinoma(227;1.3e-05)|Kidney(185;4.88e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000501)|KIRC - Kidney renal clear cell carcinoma(229;0.000871)|STAD - Stomach adenocarcinoma(132;0.0165)|READ - Rectum adenocarcinoma(331;0.0642)		ACGATTCCTGGGACCTCGTGA	0.517													8	23					0	0	1	0	0	A	6681484	G	A	6681484	4	1	81	1	0	0	0	0	0	1	0	0	11872	1241	43	2	704	2	PHF13	1	6681484	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1188	6681484	242569137	58	3674											
DNAJC11	55735	broad.mit.edu	37	1	6700036	6700036	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:6700036G>A	ENST00000377577.5	-	11	1302	c.1179C>T	c.(1177-1179)acC>acT	p.T393T	DNAJC11_ENST00000294401.7_Intron|DNAJC11_ENST00000377573.5_Silent_p.T303T|DNAJC11_ENST00000542246.1_Silent_p.T355T|DNAJC11_ENST00000465508.1_5'UTR|DNAJC11_ENST00000349363.6_Intron	NM_018198.3	NP_060668.2	Q9NVH1	DJC11_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 11	393					protein folding		heat shock protein binding|unfolded protein binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)|urinary_tract(1)	32	Ovarian(185;0.0265)|all_lung(157;0.154)	all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649)		GAGGCCCCACGGTGGCATAGA	0.512													3	23					0	0	1	0	0	A	6700036	G	A	6700036	2	1	81	1	0	0	0	0	0	0	0	1	4657	1103	39	1		1	DNAJC11	1	6700036	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	18552	6700036	242550585	59	3675											
CAMTA1	23261	broad.mit.edu	37	1	7700541	7700541	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:7700541T>C	ENST00000303635.7	+	7	799	c.592T>C	c.(592-594)Tcc>Ccc	p.S198P	CAMTA1_ENST00000439411.2_Missense_Mutation_p.S198P	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	198					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		CATCCTCTGCTCCATCAACAC	0.622			T	WWTR1	epitheliod hemangioendothelioma								24	29					0	0	1	0	0	C	7700541	T	C	7700541	3	2	81	1	0	0	0	0	1	0	0	0	2631	1551	54	3	618	3	CAMTA1	1	7700541	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	1000505	7700541	241550080	60	3676											
CAMTA1	23261	broad.mit.edu	37	1	7725163	7725163	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:7725163C>A	ENST00000303635.7	+	9	2763	c.2556C>A	c.(2554-2556)gtC>gtA	p.V852V	CAMTA1_ENST00000439411.2_Silent_p.V852V	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	852					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		CCGAGGTGGTCTCGGCCGCCT	0.667			T	WWTR1	epitheliod hemangioendothelioma								19	33					1.96292e-10	2.40212e-10	1	1	0	A	7725163	C	A	7725163	2	1	81	1	0	0	0	0	0	0	0	1	2631	900	32	4		4	CAMTA1	1	7725163	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	24622	7725163	241525458	61	3677											
CAMTA1	23261	broad.mit.edu	37	1	7811353	7811353	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:7811353G>A	ENST00000303635.7	+	20	4991	c.4784G>A	c.(4783-4785)cGg>cAg	p.R1595Q	CAMTA1_ENST00000439411.2_Missense_Mutation_p.R1581Q|CAMTA1_ENST00000476864.1_Missense_Mutation_p.R159Q	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	1595	IQ 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		CAGAGCCGACGGGCTGCTGTG	0.463			T	WWTR1	epitheliod hemangioendothelioma								17	197					0	0	1	0	0	A	7811353	G	A	7811353	3	1	81	1	0	0	0	0	1	0	0	0	2631	1116	39	1	4862	1	CAMTA1	1	7811353	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	86190	7811353	241439268	62	3678											
PER3	8863	broad.mit.edu	37	1	7886619	7886619	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:7886619C>T	ENST00000377532.3	+	16	2261	c.2037C>T	c.(2035-2037)caC>caT	p.H679H	RP3-467L1.4_ENST00000451646.1_RNA|PER3_ENST00000361923.2_Silent_p.H671H			P56645	PER3_HUMAN	period circadian clock 3	671	CSNK1E binding domain (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity			breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	39	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)		AATTTAAACACGTGGGGCTCA	0.512													7	40					0	0	1	0	0	T	7886619	C	T	7886619	2	4	81	1	0	0	0	0	0	0	0	1	11778	535	19	1		1	PER3	1	7886619	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	75266	7886619	241364002	63	3679											
PER3	8863	broad.mit.edu	37	1	7887365	7887365	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:7887365C>A	ENST00000377532.3	+	17	2600	c.2376C>A	c.(2374-2376)acC>acA	p.T792T	RP3-467L1.4_ENST00000451646.1_RNA|PER3_ENST00000361923.2_Silent_p.T784T			P56645	PER3_HUMAN	period circadian clock 3	784	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity			breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	39	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)		CGAGCCCGACCTTCCCACCTG	0.701													11	21					0.00244969	0.00258825	1	1	0	A	7887365	C	A	7887365	2	1	81	1	0	0	0	0	0	0	0	1	11778	668	24	4		4	PER3	1	7887365	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	746	7887365	241363256	64	3680											
PER3	8863	broad.mit.edu	37	1	7887550	7887550	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:7887550C>A	ENST00000377532.3	+	17	2785	c.2561C>A	c.(2560-2562)aCt>aAt	p.T854N	PER3_ENST00000361923.2_Missense_Mutation_p.T846N			P56645	PER3_HUMAN	period circadian clock 3	846	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity			breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	39	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)		TACTTGGATACTTTTATGACC	0.567													14	186					0.000958276	0.00102685	1	1	0	A	7887550	C	A	7887550	3	1	81	1	0	0	0	0	1	0	0	0	11778	565	20	4	2603	4	PER3	1	7887550	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	185	7887550	241363071	65	3681											
PER3	8863	broad.mit.edu	37	1	7902734	7902734	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:7902734C>A	ENST00000377532.3	+	21	3776	c.3552C>A	c.(3550-3552)gcC>gcA	p.A1184A	PER3_ENST00000361923.2_Silent_p.A1175A			P56645	PER3_HUMAN	period circadian clock 3	1175	CRY binding domain (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity			breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	39	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)		TTTTGGAGGCCTGTGTCACTT	0.443													5	45					0.000602214	0.000646338	1	1	0	A	7902734	C	A	7902734	2	1	81	1	0	0	0	0	0	0	0	1	11778	668	24	4		4	PER3	1	7902734	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	15184	7902734	241347887	66	3682											
ERRFI1	54206	broad.mit.edu	37	1	8073377	8073377	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:8073377C>T	ENST00000377482.5	-	4	1505	c.1282G>A	c.(1282-1284)Gct>Act	p.A428T	ERRFI1_ENST00000474874.1_Intron	NM_018948.3	NP_061821.1	Q9UJM3	ERRFI_HUMAN	ERBB receptor feedback inhibitor 1	428					lung alveolus development|lung epithelium development|lung vasculature development|negative regulation of epidermal growth factor receptor activity|negative regulation of protein autophosphorylation|regulation of keratinocyte differentiation|response to stress|skin morphogenesis	cytoplasm|extrinsic to internal side of plasma membrane|nucleus	protein kinase binding|Rho GTPase activator activity	p.A428S(1)		breast(1)|endometrium(2)|large_intestine(3)|liver(3)|lung(3)|ovary(1)|prostate(1)|skin(2)	16	Ovarian(185;0.06)|all_lung(157;0.151)	all_epithelial(116;1.76e-16)|all_lung(118;3.66e-05)|Lung NSC(185;0.000163)|Renal(390;0.000469)|Colorectal(325;0.0033)|Breast(348;0.0044)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.33e-70)|GBM - Glioblastoma multiforme(8;8.05e-37)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;6.9e-06)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.000985)|READ - Rectum adenocarcinoma(331;0.0642)		CCGCAGTCAGCAGGTAATGGC	0.433													8	100					0	0	1	0	0	T	8073377	C	T	8073377	3	4	81	1	0	0	0	0	1	0	0	0	5272	710	25	2	110	2	ERRFI1	1	8073377	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	170643	8073377	241177244	67	3683											
ERRFI1	54206	broad.mit.edu	37	1	8074335	8074335	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:8074335C>A	ENST00000377482.5	-	4	547	c.324G>T	c.(322-324)gaG>gaT	p.E108D	ERRFI1_ENST00000474874.1_Intron|ERRFI1_ENST00000467067.1_3'UTR|ERRFI1_ENST00000469499.1_3'UTR	NM_018948.3	NP_061821.1	Q9UJM3	ERRFI_HUMAN	ERBB receptor feedback inhibitor 1	108					lung alveolus development|lung epithelium development|lung vasculature development|negative regulation of epidermal growth factor receptor activity|negative regulation of protein autophosphorylation|regulation of keratinocyte differentiation|response to stress|skin morphogenesis	cytoplasm|extrinsic to internal side of plasma membrane|nucleus	protein kinase binding|Rho GTPase activator activity			breast(1)|endometrium(2)|large_intestine(3)|liver(3)|lung(3)|ovary(1)|prostate(1)|skin(2)	16	Ovarian(185;0.06)|all_lung(157;0.151)	all_epithelial(116;1.76e-16)|all_lung(118;3.66e-05)|Lung NSC(185;0.000163)|Renal(390;0.000469)|Colorectal(325;0.0033)|Breast(348;0.0044)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.33e-70)|GBM - Glioblastoma multiforme(8;8.05e-37)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;6.9e-06)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.000985)|READ - Rectum adenocarcinoma(331;0.0642)		CAACTTGATCCTCTTCATGTG	0.473													12	167					0.00136819	0.00145431	1	1	0	A	8074335	C	A	8074335	3	1	81	1	0	0	0	0	1	0	0	0	5272	680	24	4	1068	4	ERRFI1	1	8074335	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	958	8074335	241176286	68	3684											
SLC45A1	50651	broad.mit.edu	37	1	8386014	8386014	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:8386014G>A	ENST00000471889.1	+	4	1012	c.627G>A	c.(625-627)tcG>tcA	p.S209S	SLC45A1_ENST00000377479.2_Silent_p.S243S|SLC45A1_ENST00000289877.8_Silent_p.S209S			Q9Y2W3	S45A1_HUMAN	solute carrier family 45, member 1	209					carbohydrate transport	integral to membrane	symporter activity	p.S209S(1)		central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(2)	33	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		GCGCCGACTCGGCGGACAACC	0.657													12	82					0	0	1	0	0	A	8386014	G	A	8386014	2	1	81	1	0	0	0	0	0	0	0	1	14695	1103	39	1		1	SLC45A1	1	8386014	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	311679	8386014	240864607	69	3685											
SLC45A1	50651	broad.mit.edu	37	1	8390529	8390529	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:8390529C>A	ENST00000471889.1	+	5	1361	c.976C>A	c.(976-978)Ctc>Atc	p.L326I	SLC45A1_ENST00000377479.2_Missense_Mutation_p.L360I|SLC45A1_ENST00000289877.8_Missense_Mutation_p.L326I|SLC45A1_ENST00000481265.1_3'UTR			Q9Y2W3	S45A1_HUMAN	solute carrier family 45, member 1	326					carbohydrate transport	integral to membrane	symporter activity			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(2)	33	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		TGGCGACAGCCTCCCGTCGCA	0.706													5	8					0.00198382	0.00209725	1	1	0	A	8390529	C	A	8390529	3	1	81	1	0	0	0	0	1	0	0	0	14695	681	24	4	990	4	SLC45A1	1	8390529	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	4515	8390529	240860092	70	3686											
RERE	473	broad.mit.edu	37	1	8418647	8418647	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:8418647C>T	ENST00000337907.3	-	21	4582	c.3948G>A	c.(3946-3948)gaG>gaA	p.E1316E	RERE_ENST00000476556.1_Silent_p.E762E|RERE_ENST00000400907.2_Intron|RERE_ENST00000400908.2_Silent_p.E1316E|RERE_ENST00000377464.1_Silent_p.E1048E	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	1316	Arg/Glu-rich (mixed charge).				multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		GCAGCTCCCGCTCTCGGATCT	0.692													6	16					0	0	1	0	0	T	8418647	C	T	8418647	2	4	81	1	0	0	0	0	0	0	0	1	13283	796	28	2		2	RERE	1	8418647	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	28118	8418647	240831974	71	3687											
RERE	473	broad.mit.edu	37	1	8617539	8617539	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:8617539C>T	ENST00000337907.3	-	6	1200	c.566G>A	c.(565-567)cGt>cAt	p.R189H	RERE_ENST00000400907.2_Missense_Mutation_p.R189H|RERE_ENST00000400908.2_Missense_Mutation_p.R189H	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	189	BAH.				multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		CTCAGATTGACGGTAGTACCA	0.403													22	37					0	0	1	0	0	T	8617539	C	T	8617539	3	4	81	1	0	0	0	0	1	0	0	0	13283	536	19	1	4210	1	RERE	1	8617539	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	198892	8617539	240633082	72	3688											
RERE	473	broad.mit.edu	37	1	8617555	8617555	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:8617555C>T	ENST00000337907.3	-	6	1184	c.550G>A	c.(550-552)Gtc>Atc	p.V184I	RERE_ENST00000400907.2_Missense_Mutation_p.V184I|RERE_ENST00000400908.2_Missense_Mutation_p.V184I	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	184	BAH.				multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		TACCATTTGACGTTCATGAGG	0.418													19	32					0	0	1	0	0	T	8617555	C	T	8617555	3	4	81	1	0	0	0	0	1	0	0	0	13283	536	19	1	4226	1	RERE	1	8617555	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	16	8617555	240633066	73	3689											
ENO1	2023	broad.mit.edu	37	1	8928048	8928048	+	Splice_Site	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:8928048T>A	ENST00000234590.4	-	5	428	c.309A>T	c.(307-309)aaA>aaT	p.K103N		NM_001428.3	NP_001419.1	P06733	ENOA_HUMAN	enolase 1, (alpha)	103	Required for repression of c-myc promoter activity.				gluconeogenesis|glycolysis|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|response to virus	phosphopyruvate hydratase complex|plasma membrane|sarcomere	DNA binding|magnesium ion binding|phosphopyruvate hydratase activity|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	10	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;2.54e-20)|all_lung(118;2.99e-06)|Lung NSC(185;6.25e-06)|Renal(390;0.000147)|Breast(348;0.00086)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.42e-07)|COAD - Colon adenocarcinoma(227;2.78e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642)		GCCACTCACATTTATTTTCTG	0.458													231	375					0	0	1	0	0	A	8928048	T	A	8928048	5	1	81	1	0	0	0	0	0	0	1	0	5149	1507	52	4	1027	4	ENO1	1	8928048	Splice_Site	SNP	T	TCGA-DU-6392-01A-11D-1705-08	310493	8928048	240322573	74	3690											
ENO1	2023	broad.mit.edu	37	1	8930530	8930530	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:8930530G>A	ENST00000234590.4	-	4	340	c.221C>T	c.(220-222)gCg>gTg	p.A74V		NM_001428.3	NP_001419.1	P06733	ENOA_HUMAN	enolase 1, (alpha)	74					gluconeogenesis|glycolysis|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|response to virus	phosphopyruvate hydratase complex|plasma membrane|sarcomere	DNA binding|magnesium ion binding|phosphopyruvate hydratase activity|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	10	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;2.54e-20)|all_lung(118;2.99e-06)|Lung NSC(185;6.25e-06)|Renal(390;0.000147)|Breast(348;0.00086)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.42e-07)|COAD - Colon adenocarcinoma(227;2.78e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642)		CAGGGCAGGCGCAATAGTTTT	0.458													12	23					0	0	1	0	0	A	8930530	G	A	8930530	3	1	81	1	0	0	0	0	1	0	0	0	5149	1087	38	1	1119	1	ENO1	1	8930530	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2482	8930530	240320091	75	3691											
CA6	765	broad.mit.edu	37	1	9011536	9011536	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:9011536C>T	ENST00000480186.3	+	3	319	c.314C>T	c.(313-315)gCg>gTg	p.A105V	CA6_ENST00000377442.2_Intron|CA6_ENST00000476083.1_Intron|CA6_ENST00000377436.3_Intron|CA6_ENST00000377443.2_Intron			P23280	CAH6_HUMAN	carbonic anhydrase VI						one-carbon metabolic process	extracellular region	carbonate dehydratase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|skin(5)	16	Ovarian(185;0.112)|all_lung(157;0.143)	all_epithelial(116;1.02e-19)|all_lung(118;3.6e-06)|Lung NSC(185;7.94e-06)|Renal(390;0.000147)|Breast(348;0.00123)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.9e-07)|COAD - Colon adenocarcinoma(227;8.28e-05)|Kidney(185;0.000268)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|STAD - Stomach adenocarcinoma(132;0.00184)|BRCA - Breast invasive adenocarcinoma(304;0.00192)|READ - Rectum adenocarcinoma(331;0.0649)		GGAGAAGGGGCGAAGCACAAA	0.527													13	14					0	0	1	0	0	T	9011536	C	T	9011536	3	4	81	1	0	0	0	0	1	0	0	0	2539	783	27	1		1	CA6	1	9011536	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	81006	9011536	240239085	76	3692											
SLC2A7	155184	broad.mit.edu	37	1	9083027	9083027	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:9083027G>A	ENST00000400906.1	-	3	260	c.261C>T	c.(259-261)ggC>ggT	p.G87G		NM_207420.2	NP_997303.2	Q6PXP3	GTR7_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 7	87						integral to membrane|plasma membrane	sugar transmembrane transporter activity	p.G87G(1)		NS(1)|breast(1)|endometrium(4)|large_intestine(10)|lung(4)|prostate(2)|skin(2)	24	Ovarian(185;0.112)|all_lung(157;0.185)	all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.04e-07)|COAD - Colon adenocarcinoma(227;7.66e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642)		CCAACAGGCCGCCCAGAGGAA	0.517													80	89					0	0	1	0	0	A	9083027	G	A	9083027	2	1	81	1	0	0	0	0	0	0	0	1	14605	1074	38	1		1	SLC2A7	1	9083027	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	71491	9083027	240167594	77	3693											
H6PD	9563	broad.mit.edu	37	1	9305383	9305383	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:9305383C>T	ENST00000377403.2	+	2	692	c.390C>T	c.(388-390)caC>caT	p.H130H	H6PD_ENST00000602477.1_Silent_p.H141H	NM_001282587.1|NM_004285.3	NP_001269516.1|NP_004276.2	O95479	G6PE_HUMAN	hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)	130	Glucose 1-dehydrogenase.					endoplasmic reticulum lumen	6-phosphogluconolactonase activity|glucose 1-dehydrogenase|glucose-6-phosphate dehydrogenase activity|NADP binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	all_lung(157;0.23)	all_epithelial(116;1.28e-19)|all_lung(118;5.22e-06)|Lung NSC(185;1.98e-05)|Renal(390;0.000147)|Breast(348;0.00109)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.88e-07)|COAD - Colon adenocarcinoma(227;7.47e-05)|Kidney(185;0.000244)|KIRC - Kidney renal clear cell carcinoma(229;0.000905)|STAD - Stomach adenocarcinoma(132;0.00176)|BRCA - Breast invasive adenocarcinoma(304;0.00183)|READ - Rectum adenocarcinoma(331;0.0419)	NADH(DB00157)	AGCTCCAGCACGCAGGCCTCC	0.597													13	70					0	0	1	0	0	T	9305383	C	T	9305383	2	4	81	1	0	0	0	0	0	0	0	1	6977	535	19	1		1	H6PD	1	9305383	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	222356	9305383	239945238	78	3694											
H6PD	9563	broad.mit.edu	37	1	9322333	9322333	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:9322333C>T	ENST00000377403.2	+	4	1263	c.961C>T	c.(961-963)Cgc>Tgc	p.R321C	H6PD_ENST00000602477.1_Missense_Mutation_p.R332C	NM_001282587.1|NM_004285.3	NP_001269516.1|NP_004276.2	O95479	G6PE_HUMAN	hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)	321	Glucose 1-dehydrogenase.					endoplasmic reticulum lumen	6-phosphogluconolactonase activity|glucose 1-dehydrogenase|glucose-6-phosphate dehydrogenase activity|NADP binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	all_lung(157;0.23)	all_epithelial(116;1.28e-19)|all_lung(118;5.22e-06)|Lung NSC(185;1.98e-05)|Renal(390;0.000147)|Breast(348;0.00109)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.88e-07)|COAD - Colon adenocarcinoma(227;7.47e-05)|Kidney(185;0.000244)|KIRC - Kidney renal clear cell carcinoma(229;0.000905)|STAD - Stomach adenocarcinoma(132;0.00176)|BRCA - Breast invasive adenocarcinoma(304;0.00183)|READ - Rectum adenocarcinoma(331;0.0419)	NADH(DB00157)	TGAGCAGGTGCGCAGAGAGCT	0.677													5	3					0	0	1	0	0	T	9322333	C	T	9322333	3	4	81	1	0	0	0	0	1	0	0	0	6977	768	27	1	971	1	H6PD	1	9322333	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	16950	9322333	239928288	79	3695											
H6PD	9563	broad.mit.edu	37	1	9323955	9323955	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:9323955G>A	ENST00000377403.2	+	5	1705	c.1403G>A	c.(1402-1404)gGc>gAc	p.G468D	H6PD_ENST00000602477.1_Missense_Mutation_p.G479D	NM_001282587.1|NM_004285.3	NP_001269516.1|NP_004276.2	O95479	G6PE_HUMAN	hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)	468	Glucose 1-dehydrogenase.					endoplasmic reticulum lumen	6-phosphogluconolactonase activity|glucose 1-dehydrogenase|glucose-6-phosphate dehydrogenase activity|NADP binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	all_lung(157;0.23)	all_epithelial(116;1.28e-19)|all_lung(118;5.22e-06)|Lung NSC(185;1.98e-05)|Renal(390;0.000147)|Breast(348;0.00109)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.88e-07)|COAD - Colon adenocarcinoma(227;7.47e-05)|Kidney(185;0.000244)|KIRC - Kidney renal clear cell carcinoma(229;0.000905)|STAD - Stomach adenocarcinoma(132;0.00176)|BRCA - Breast invasive adenocarcinoma(304;0.00183)|READ - Rectum adenocarcinoma(331;0.0419)	NADH(DB00157)	ATCTTCCATGGCCGGAAGAAT	0.602													61	97					0	0	1	0	0	A	9323955	G	A	9323955	3	1	81	1	0	0	0	0	1	0	0	0	6977	1203	42	2	1417	2	H6PD	1	9323955	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1622	9323955	239926666	80	3696											
H6PD	9563	broad.mit.edu	37	1	9324806	9324806	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:9324806C>T	ENST00000377403.2	+	5	2556	c.2254C>T	c.(2254-2256)Cgt>Tgt	p.R752C	H6PD_ENST00000602477.1_Missense_Mutation_p.R763C	NM_001282587.1|NM_004285.3	NP_001269516.1|NP_004276.2	O95479	G6PE_HUMAN	hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)	752	6-phosphogluconolactonase.					endoplasmic reticulum lumen	6-phosphogluconolactonase activity|glucose 1-dehydrogenase|glucose-6-phosphate dehydrogenase activity|NADP binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	all_lung(157;0.23)	all_epithelial(116;1.28e-19)|all_lung(118;5.22e-06)|Lung NSC(185;1.98e-05)|Renal(390;0.000147)|Breast(348;0.00109)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.88e-07)|COAD - Colon adenocarcinoma(227;7.47e-05)|Kidney(185;0.000244)|KIRC - Kidney renal clear cell carcinoma(229;0.000905)|STAD - Stomach adenocarcinoma(132;0.00176)|BRCA - Breast invasive adenocarcinoma(304;0.00183)|READ - Rectum adenocarcinoma(331;0.0419)	NADH(DB00157)	CAGGATGAAGCGTGAGATCAC	0.647													7	18					0	0	1	0	0	T	9324806	C	T	9324806	3	4	81	1	0	0	0	0	1	0	0	0	6977	768	27	1	2268	1	H6PD	1	9324806	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	851	9324806	239925815	81	3697											
SLC25A33	84275	broad.mit.edu	37	1	9627405	9627405	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:9627405A>G	ENST00000302692.6	+	3	510	c.300A>G	c.(298-300)ggA>ggG	p.G100G		NM_032315.2	NP_115691.1	Q9BSK2	S2533_HUMAN	solute carrier family 25 (pyrimidine nucleotide carrier), member 33	100					transport	integral to membrane|mitochondrial inner membrane				endometrium(2)|kidney(1)|lung(4)|prostate(1)|skin(1)	9	all_lung(157;0.246)	all_epithelial(116;1.16e-18)|all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Breast(348;0.00191)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.01e-08)|COAD - Colon adenocarcinoma(227;1.44e-05)|Kidney(185;0.000262)|KIRC - Kidney renal clear cell carcinoma(229;0.000957)|BRCA - Breast invasive adenocarcinoma(304;0.0019)|STAD - Stomach adenocarcinoma(132;0.00355)|READ - Rectum adenocarcinoma(331;0.0419)		ATTTGGTTGGAGTTGCACCAT	0.423													47	91					0	0	1	0	0	G	9627405	A	G	9627405	2	3	81	1	0	0	0	0	0	0	0	1	14552	291	11	3		3	SLC25A33	1	9627405	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	302599	9627405	239623216	82	3698											
PIK3CD	5293	broad.mit.edu	37	1	9776516	9776516	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:9776516G>T	ENST00000536656.1	+	6	827	c.619G>T	c.(619-621)Gtg>Ttg	p.V207L	PIK3CD_ENST00000377346.4_Missense_Mutation_p.V207L|PIK3CD_ENST00000361110.2_Missense_Mutation_p.V207L			O00329	PK3CD_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta	207					phosphatidylinositol-mediated signaling|protein phosphorylation	phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31	all_lung(157;0.222)	all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419)		CACCTTCCAGGTGTCCACCAA	0.667													13	18					9.31168e-06	1.05369e-05	1	1	0	T	9776516	G	T	9776516	3	4	81	1	0	0	0	0	1	0	0	0	11963	1261	44	5	633	5	PIK3CD	1	9776516	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	149111	9776516	239474105	83	3699											
PIK3CD	5293	broad.mit.edu	37	1	9783240	9783240	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:9783240A>G	ENST00000536656.1	+	20	2764	c.2556A>G	c.(2554-2556)gtA>gtG	p.V852V	PIK3CD_ENST00000377346.4_Silent_p.V828V|PIK3CD_ENST00000361110.2_Silent_p.V852V			O00329	PK3CD_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta	828	PI3K/PI4K.				phosphatidylinositol-mediated signaling|protein phosphorylation	phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31	all_lung(157;0.222)	all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419)		TTGAGGTGGTACTCCGTTCAG	0.592													12	118					0	0	1	0	0	G	9783240	A	G	9783240	2	3	81	1	0	0	0	0	0	0	0	1	11963	378	14	3		3	PIK3CD	1	9783240	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	6724	9783240	239467381	84	3700											
CLSTN1	22883	broad.mit.edu	37	1	9795563	9795563	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:9795563C>T	ENST00000377298.4	-	13	2637	c.1845G>A	c.(1843-1845)acG>acA	p.T615T	CLSTN1_ENST00000377288.3_Silent_p.T596T|CLSTN1_ENST00000361311.4_Silent_p.T605T	NM_001009566.1	NP_001009566.1	O94985	CSTN1_HUMAN	calsyntenin 1	615					homophilic cell adhesion	cell junction|cell projection|endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus|postsynaptic membrane	calcium ion binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(9)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	36	all_lung(157;0.222)	all_lung(284;4.03e-05)|Lung NSC(185;6.93e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;8.36e-08)|COAD - Colon adenocarcinoma(227;1.93e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|STAD - Stomach adenocarcinoma(132;0.00644)|READ - Rectum adenocarcinoma(331;0.0419)		GAATTCCGGGCGTGGGGAACT	0.502													8	94					0	0	1	0	0	T	9795563	C	T	9795563	2	4	81	1	0	0	0	0	0	0	0	1	3584	755	27	1		1	CLSTN1	1	9795563	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	12323	9795563	239455058	85	3701											
CLSTN1	22883	broad.mit.edu	37	1	9815238	9815238	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:9815238G>A	ENST00000377298.4	-	4	1166	c.374C>T	c.(373-375)tCa>tTa	p.S125L	CLSTN1_ENST00000377288.3_Missense_Mutation_p.S125L|CLSTN1_ENST00000361311.4_Missense_Mutation_p.S115L	NM_001009566.1	NP_001009566.1	O94985	CSTN1_HUMAN	calsyntenin 1	125	Cadherin 1.				homophilic cell adhesion	cell junction|cell projection|endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus|postsynaptic membrane	calcium ion binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(9)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	36	all_lung(157;0.222)	all_lung(284;4.03e-05)|Lung NSC(185;6.93e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;8.36e-08)|COAD - Colon adenocarcinoma(227;1.93e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|STAD - Stomach adenocarcinoma(132;0.00644)|READ - Rectum adenocarcinoma(331;0.0419)		GATGGTGAATGAATAGTCTTT	0.463													9	155					0	0	1	0	0	A	9815238	G	A	9815238	3	1	81	1	0	0	0	0	1	0	0	0	3584	1294	45	2	2635	2	CLSTN1	1	9815238	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	19675	9815238	239435383	86	3702											
UBE4B	10277	broad.mit.edu	37	1	10195195	10195195	+	Silent	SNP	G	G	A	rs146689339		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:10195195G>A	ENST00000377157.3	+	15	2501	c.1440G>A	c.(1438-1440)acG>acA	p.T480T	UBE4B_ENST00000343090.6_Silent_p.T725T|UBE4B_ENST00000253251.8_Silent_p.T596T	NM_006048.4	NP_006039.2	O95155	UBE4B_HUMAN	ubiquitination factor E4B	725					apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV	cytoplasm|ubiquitin ligase complex	enzyme binding			NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	48		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)		ATGATGAGACGCGTGTGAATG	0.443													3	27					0	0	1	0	0	A	10195195	G	A	10195195	2	1	81	1	0	0	0	0	0	0	0	1	16944	1074	38	1		1	UBE4B	1	10195195	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	379957	10195195	239055426	87	3703											
KIF1B	23095	broad.mit.edu	37	1	10364195	10364195	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:10364195G>T	ENST00000377093.4	+	21	3105	c.2952G>T	c.(2950-2952)gaG>gaT	p.E984D	KIF1B_ENST00000377081.1_Intron|KIF1B_ENST00000377083.1_Missense_Mutation_p.E984D|KIF1B_ENST00000377086.1_Intron|KIF1B_ENST00000263934.6_Intron	NM_183416.3	NP_904325.2	O60333	KIF1B_HUMAN	kinesin family member 1B	0					anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		CAGAAGATGAGGTTATAGAGC	0.458													10	131					7.48243e-07	8.64403e-07	1	1	0	T	10364195	G	T	10364195	3	4	81	1	0	0	0	0	1	0	0	0	8326	991	35	4	3030	4	KIF1B	1	10364195	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	169000	10364195	238886426	88	3704											
CORT	1325	broad.mit.edu	37	1	10510198	10510198	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:10510198A>G	ENST00000320498.4	+	1	228	c.68A>G	c.(67-69)cAa>cGa	p.Q23R	APITD1-CORT_ENST00000470413.2_Intron|APITD1_ENST00000602296.1_Intron|APITD1-CORT_ENST00000465026.1_Intron|APITD1_ENST00000602787.1_Intron|APITD1-CORT_ENST00000400900.2_Intron|CORT_ENST00000377049.3_5'UTR					cortistatin											breast(1)|endometrium(1)|stomach(1)	3	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.12e-07)|COAD - Colon adenocarcinoma(227;7.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.0165)|READ - Rectum adenocarcinoma(331;0.0487)		GAAGAGACCCAAGTCCCCAAA	0.527													6	145					0	0	1	0	0	G	10510198	A	G	10510198	3	3	81	1	0	0	0	0	1	0	0	0	3783	130	5	3	70	3	CORT	1	10510198	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	146003	10510198	238740423	89	3705											
DFFA	1676	broad.mit.edu	37	1	10521672	10521672	+	Missense_Mutation	SNP	G	G	A	rs17856222		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:10521672G>A	ENST00000377038.3	-	6	938	c.871C>T	c.(871-873)Cgg>Tgg	p.R291W		NM_004401.2	NP_004392.1	O00273	DFFA_HUMAN	DNA fragmentation factor, 45kDa, alpha polypeptide	291				R -> W (in Ref. 7; AAH07721).	DNA fragmentation involved in apoptotic nuclear change|intracellular signal transduction|negative regulation of apoptosis	cytosol|mitochondrion|nucleoplasm|plasma membrane	deoxyribonuclease activity|identical protein binding			large_intestine(3)|lung(2)	5	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.25e-07)|COAD - Colon adenocarcinoma(227;7.25e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000296)|Kidney(185;0.00074)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0487)		GCGAGCTCCCGCTCACAGGCC	0.562													7	49					0	0	1	0	0	A	10521672	G	A	10521672	3	1	81	1	0	0	0	0	1	0	0	0	4480	1086	38	1	128	1	DFFA	1	10521672	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	11474	10521672	238728949	90	3706											
CASZ1	54897	broad.mit.edu	37	1	10699521	10699521	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:10699521C>T	ENST00000377022.3	-	21	5075	c.4758G>A	c.(4756-4758)tcG>tcA	p.S1586S	RP4-734G22.3_ENST00000606802.1_RNA	NM_001079843.2	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	1586					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		AGTCCATCTGCGACATGCCCA	0.701													4	1					0	0	1	0	0	T	10699521	C	T	10699521	2	4	81	1	0	0	0	0	0	0	0	1	2703	755	27	1		1	CASZ1	1	10699521	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	177849	10699521	238551100	91	3707											
CASZ1	54897	broad.mit.edu	37	1	10706199	10706199	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:10706199G>T	ENST00000377022.3	-	17	3999	c.3682C>A	c.(3682-3684)Ctc>Atc	p.L1228I	RP4-734G22.3_ENST00000606802.1_RNA	NM_001079843.2	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	1228					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		TTGGGACAGAGACACTGCAGA	0.602													4	45					0.00909568	0.00944708	1	1	0	T	10706199	G	T	10706199	3	4	81	1	0	0	0	0	1	0	0	0	2703	942	33	4	1617	4	CASZ1	1	10706199	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	6678	10706199	238544422	92	3708											
CASZ1	54897	broad.mit.edu	37	1	10714227	10714227	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:10714227C>A	ENST00000377022.3	-	11	2204	c.1887G>T	c.(1885-1887)aaG>aaT	p.K629N	RP4-734G22.3_ENST00000606802.1_RNA|CASZ1_ENST00000344008.5_Missense_Mutation_p.K629N	NM_001079843.2	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	629					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		AGCTCTTGTGCTTCTCGATGT	0.557													5	57					3.59834e-05	3.99423e-05	1	1	0	A	10714227	C	A	10714227	3	1	81	1	0	0	0	0	1	0	0	0	2703	796	28	4	3440	4	CASZ1	1	10714227	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	8028	10714227	238536394	93	3709											
CASZ1	54897	broad.mit.edu	37	1	10715763	10715763	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:10715763G>A	ENST00000377022.3	-	9	1925	c.1608C>T	c.(1606-1608)agC>agT	p.S536S	CASZ1_ENST00000344008.5_Silent_p.S536S	NM_001079843.2	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	536					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	p.S536S(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		GGTAGTAGACGCTGCAGTCGT	0.622													15	19					0	0	1	0	0	A	10715763	G	A	10715763	2	1	81	1	0	0	0	0	0	0	0	1	2703	1078	38	1		1	CASZ1	1	10715763	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1536	10715763	238534858	94	3710											
CASZ1	54897	broad.mit.edu	37	1	10720038	10720038	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:10720038T>C	ENST00000377022.3	-	6	1378	c.1061A>G	c.(1060-1062)gAg>gGg	p.E354G	CASZ1_ENST00000344008.5_Missense_Mutation_p.E354G	NM_001079843.2	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	354					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		GGGGCTGCCCTCCCCGGGTTT	0.642													8	86					0	0	1	0	0	C	10720038	T	C	10720038	3	2	81	1	0	0	0	0	1	0	0	0	2703	1551	54	3	4286	3	CASZ1	1	10720038	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	4275	10720038	238530583	95	3711											
C1orf127	148345	broad.mit.edu	37	1	11018798	11018798	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:11018798G>T	ENST00000377004.4	-	6	527	c.528C>A	c.(526-528)ccC>ccA	p.P176P	C1orf127_ENST00000377008.4_Silent_p.P27P	NM_001170754.1	NP_001164225.1	B7ZLG7	B7ZLG7_HUMAN	chromosome 1 open reading frame 127	27										NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(5)	32	Ovarian(185;0.249)	Lung NSC(185;0.000226)|all_lung(284;0.000302)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.71e-07)|COAD - Colon adenocarcinoma(227;7.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000305)|Kidney(185;0.000785)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|READ - Rectum adenocarcinoma(331;0.0509)		ACAGGGGCAGGGGCCGGGAGA	0.572													12	32					9.05144e-12	1.12483e-11	1	1	0	T	11018798	G	T	11018798	2	4	81	1	0	0	0	0	0	0	0	1	2007	1219	43	5		5	C1orf127	1	11018798	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	298760	11018798	238231823	96	3712											
SRM	6723	broad.mit.edu	37	1	11119373	11119373	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:11119373T>A	ENST00000376957.2	-	2	277	c.197A>T	c.(196-198)gAc>gTc	p.D66V		NM_003132.2	NP_003123.2	P19623	SPEE_HUMAN	spermidine synthase	66					spermidine biosynthetic process	cytosol	protein homodimerization activity|spermidine synthase activity			large_intestine(1)|lung(1)|urinary_tract(1)	3	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.228)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.14e-07)|COAD - Colon adenocarcinoma(227;7.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192)	S-Adenosylmethionine(DB00118)|Spermine(DB00127)	GATGACACCGTCCAACACCAG	0.622													12	96					0	0	1	0	0	A	11119373	T	A	11119373	3	1	81	1	0	0	0	0	1	0	0	0	15207	1667	58	5	739	5	SRM	1	11119373	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	100575	11119373	238131248	97	3713											
MTOR	2475	broad.mit.edu	37	1	11182139	11182139	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:11182139A>T	ENST00000361445.4	-	48	6783	c.6707T>A	c.(6706-6708)cTc>cAc	p.L2236H	MTOR_ENST00000376838.1_Missense_Mutation_p.L441H	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	2236	PI3K/PI4K.				cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						CCAGCCAATGAGGCCCGAGTT	0.532													23	20					0	0	1	0	0	T	11182139	A	T	11182139	3	4	81	1	0	0	0	0	1	0	0	0	10002	304	11	5	986	5	MTOR	1	11182139	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	62766	11182139	238068482	98	3714											
MTOR	2475	broad.mit.edu	37	1	11205086	11205086	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:11205086C>A	ENST00000361445.4	-	33	4779	c.4703G>T	c.(4702-4704)aGg>aTg	p.R1568M	MTOR-AS1_ENST00000445982.1_RNA|MTOR-AS1_ENST00000420480.1_RNA	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	1568	FAT.				cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						CAGCAGGTCCCTGGCCTTGTC	0.488													28	58					6.38683e-12	7.95227e-12	1	1	0	A	11205086	C	A	11205086	3	1	81	1	0	0	0	0	1	0	0	0	10002	681	24	4	3050	4	MTOR	1	11205086	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	22947	11205086	238045535	99	3715											
ANGPTL7	10218	broad.mit.edu	37	1	11249979	11249979	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:11249979C>T	ENST00000376819.3	+	1	582	c.343C>T	c.(343-345)Cag>Tag	p.Q115*	MTOR_ENST00000361445.4_Intron	NM_021146.2	NP_066969.1	O43827	ANGL7_HUMAN	angiopoietin-like 7	115					response to oxidative stress|signal transduction	extracellular region	receptor binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(2)|stomach(1)	10	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000818)|all_lung(284;0.00105)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.39e-06)|COAD - Colon adenocarcinoma(227;0.000244)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0487)		CATGCAGCTGCAGGCAGCACA	0.562													21	21					0	0	1	0	0	T	11249979	C	T	11249979	4	4	81	1	0	0	0	0	0	1	0	0	615	711	25	2	345	2	ANGPTL7	1	11249979	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	44893	11249979	238000642	100	3716											
UBIAD1	29914	broad.mit.edu	37	1	11333834	11333834	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:11333834G>A	ENST00000376810.5	+	1	572	c.246G>A	c.(244-246)agG>agA	p.R82R	UBIAD1_ENST00000376804.2_Silent_p.R82R	NM_013319.2	NP_037451.1	Q9Y5Z9	UBIA1_HUMAN	UbiA prenyltransferase domain containing 1	82					menaquinone biosynthetic process	endoplasmic reticulum membrane|integral to membrane|mitochondrion|nucleus	prenyltransferase activity			endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(3)	12	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000818)|all_lung(284;0.00105)|Colorectal(325;0.0062)|Breast(348;0.012)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.52e-06)|COAD - Colon adenocarcinoma(227;0.000254)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|Kidney(185;0.000754)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0487)		TGGATCCCAGGCTCTTGGTGG	0.587													12	115					0	0	1	0	0	A	11333834	G	A	11333834	2	1	81	1	0	0	0	0	0	0	0	1	16946	1194	42	2		2	UBIAD1	1	11333834	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	83855	11333834	237916787	101	3717											
PTCHD2	57540	broad.mit.edu	37	1	11575545	11575545	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:11575545G>A	ENST00000294484.6	+	5	1711	c.1573G>A	c.(1573-1575)Gtg>Atg	p.V525M	PTCHD2_ENST00000389575.3_Missense_Mutation_p.V525M	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	525	SSD.				cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		GGCCGCCTTCGTGATCGTGGG	0.587													18	30					0	0	1	0	0	A	11575545	G	A	11575545	3	1	81	1	0	0	0	0	1	0	0	0	12782	1145	40	1	1587	1	PTCHD2	1	11575545	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	241711	11575545	237675076	102	3718											
FBXO44	93611	broad.mit.edu	37	1	11715984	11715984	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:11715984G>A	ENST00000376770.1	+	3	590	c.92G>A	c.(91-93)cGc>cAc	p.R31H	FBXO44_ENST00000376760.1_Missense_Mutation_p.R31H|FBXO44_ENST00000376762.4_Missense_Mutation_p.R31H|FBXO44_ENST00000251547.5_Missense_Mutation_p.R31H|FBXO44_ENST00000376768.1_Missense_Mutation_p.R31H|FBXO44_ENST00000251546.4_Missense_Mutation_p.R31H	NM_001014765.1	NP_001014765.1	Q9H4M3	FBX44_HUMAN	F-box protein 44	31	F-box.				protein catabolic process	SCF ubiquitin ligase complex	protein binding			kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	8	Ovarian(185;0.249)	Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.41e-06)|COAD - Colon adenocarcinoma(227;0.000255)|BRCA - Breast invasive adenocarcinoma(304;0.0003)|Kidney(185;0.000758)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649)		CTGAACTGCCGCCTGGTCTGC	0.642													8	42					0	0	1	0	0	A	11715984	G	A	11715984	3	1	81	1	0	0	0	0	1	0	0	0	5786	1087	38	1	94	1	FBXO44	1	11715984	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	140439	11715984	237534637	103	3719											
FBXO44	93611	broad.mit.edu	37	1	11718910	11718910	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:11718910C>T	ENST00000251546.4	+	4	718	c.481C>T	c.(481-483)Cga>Tga	p.R161*	FBXO44_ENST00000376760.1_Nonsense_Mutation_p.R161*|FBXO44_ENST00000376762.4_Nonsense_Mutation_p.R161*|FBXO44_ENST00000376770.1_Silent_p.S202S|FBXO44_ENST00000251547.5_Silent_p.S202S|FBXO44_ENST00000376768.1_Nonsense_Mutation_p.R193*	NM_183412.2	NP_904319.1	Q9H4M3	FBX44_HUMAN	F-box protein 44	0	FBA.				protein catabolic process	SCF ubiquitin ligase complex	protein binding			kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	8	Ovarian(185;0.249)	Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.41e-06)|COAD - Colon adenocarcinoma(227;0.000255)|BRCA - Breast invasive adenocarcinoma(304;0.0003)|Kidney(185;0.000758)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649)		AGCAGAAGAGCGATGCCAAGT	0.657													18	31					0	0	1	0	0	T	11718910	C	T	11718910	4	4	81	1	0	0	0	0	0	1	0	0	5786	769	27	1	620	1	FBXO44	1	11718910	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2926	11718910	237531711	104	3720											
FBXO6	26270	broad.mit.edu	37	1	11733671	11733671	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:11733671G>T	ENST00000376753.4	+	6	780		c.e6-1			NM_018438.5	NP_060908.1	Q9NRD1	FBX6_HUMAN	F-box protein 6						DNA damage checkpoint|DNA repair|ER-associated protein catabolic process|response to unfolded protein|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytoplasm|SCF ubiquitin ligase complex	glycoprotein binding			breast(1)|large_intestine(1)|lung(1)|ovary(1)|upper_aerodigestive_tract(2)	6	Ovarian(185;0.249)	Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.25e-06)|COAD - Colon adenocarcinoma(227;0.000251)|BRCA - Breast invasive adenocarcinoma(304;0.000297)|Kidney(185;0.000747)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649)		CCTCCCAACAGGTCTCCTACA	0.642													7	71					2.7689e-08	3.2887e-08	1	1	0	T	11733671	G	T	11733671	5	4	81	1	0	0	0	0	0	0	1	0	5792	1014	35	4	663	4	FBXO6	1	11733671	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	14761	11733671	237516950	105	3721											
FBXO6	26270	broad.mit.edu	37	1	11733805	11733805	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:11733805A>C	ENST00000376753.4	+	6	914	c.779A>C	c.(778-780)aAg>aCg	p.K260T		NM_018438.5	NP_060908.1	Q9NRD1	FBX6_HUMAN	F-box protein 6	260					DNA damage checkpoint|DNA repair|ER-associated protein catabolic process|response to unfolded protein|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytoplasm|SCF ubiquitin ligase complex	glycoprotein binding			breast(1)|large_intestine(1)|lung(1)|ovary(1)|upper_aerodigestive_tract(2)	6	Ovarian(185;0.249)	Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.25e-06)|COAD - Colon adenocarcinoma(227;0.000251)|BRCA - Breast invasive adenocarcinoma(304;0.000297)|Kidney(185;0.000747)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649)		GTCAGCCCCAAGATGACCAGG	0.617													22	30					0	0	1	0	0	C	11733805	A	C	11733805	3	2	81	1	0	0	0	0	1	0	0	0	5792	72	3	5	797	5	FBXO6	1	11733805	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	134	11733805	237516816	106	3722											
MTHFR	4524	broad.mit.edu	37	1	11850928	11850928	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:11850928G>A	ENST00000376592.1	-	11	1908	c.1780C>T	c.(1780-1782)Cgg>Tgg	p.R594W	MTHFR_ENST00000376585.1_Missense_Mutation_p.R635W|MTHFR_ENST00000376583.3_Missense_Mutation_p.R635W|MTHFR_ENST00000376590.3_Missense_Mutation_p.R594W			P42898	MTHR_HUMAN	methylenetetrahydrofolate reductase (NAD(P)H)	594			R -> Q (in dbSNP:rs2274976).		blood circulation|folic acid metabolic process	cytosol	methylenetetrahydrofolate reductase (NADPH) activity|protein binding			NS(4)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	Benazepril(DB00542)|Cyanocobalamin(DB00115)|Folic Acid(DB00158)|L-Methionine(DB00134)|Menadione(DB00170)|Methotrexate(DB00563)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|Raltitrexed(DB00293)|Riboflavin(DB00140)|S-Adenosylmethionine(DB00118)|Tetrahydrofolic acid(DB00116)	TTTCCCCACCGCTCAATCCAC	0.557													22	30					0	0	1	0	0	A	11850928	G	A	11850928	3	1	81	1	0	0	0	0	1	0	0	0	9979	1086	38	1	194	1	MTHFR	1	11850928	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	117123	11850928	237399693	107	3723											
MTHFR	4524	broad.mit.edu	37	1	11854129	11854129	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:11854129C>A	ENST00000376592.1	-	8	1493	c.1365G>T	c.(1363-1365)tgG>tgT	p.W455C	MTHFR_ENST00000376585.1_Missense_Mutation_p.W496C|MTHFR_ENST00000376583.3_Missense_Mutation_p.W496C|MTHFR_ENST00000376590.3_Missense_Mutation_p.W455C			P42898	MTHR_HUMAN	methylenetetrahydrofolate reductase (NAD(P)H)	455					blood circulation|folic acid metabolic process	cytosol	methylenetetrahydrofolate reductase (NADPH) activity|protein binding			NS(4)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	Benazepril(DB00542)|Cyanocobalamin(DB00115)|Folic Acid(DB00158)|L-Methionine(DB00134)|Menadione(DB00170)|Methotrexate(DB00563)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|Raltitrexed(DB00293)|Riboflavin(DB00140)|S-Adenosylmethionine(DB00118)|Tetrahydrofolic acid(DB00116)	GCTCATCGTTCCAGGGCAGGC	0.637													30	40					2.12542e-12	2.65769e-12	1	1	0	A	11854129	C	A	11854129	3	1	81	1	0	0	0	0	1	0	0	0	9979	856	30	5	621	5	MTHFR	1	11854129	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3201	11854129	237396492	108	3724											
MTHFR	4524	broad.mit.edu	37	1	11854429	11854429	+	Missense_Mutation	SNP	G	G	A	rs138469955		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:11854429G>A	ENST00000376592.1	-	7	1461	c.1333C>T	c.(1333-1335)Cgg>Tgg	p.R445W	MTHFR_ENST00000376585.1_Missense_Mutation_p.R486W|MTHFR_ENST00000376583.3_Missense_Mutation_p.R486W|MTHFR_ENST00000376590.3_Missense_Mutation_p.R445W			P42898	MTHR_HUMAN	methylenetetrahydrofolate reductase (NAD(P)H)	445					blood circulation|folic acid metabolic process	cytosol	methylenetetrahydrofolate reductase (NADPH) activity|protein binding			NS(4)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	Benazepril(DB00542)|Cyanocobalamin(DB00115)|Folic Acid(DB00158)|L-Methionine(DB00134)|Menadione(DB00170)|Methotrexate(DB00563)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|Raltitrexed(DB00293)|Riboflavin(DB00140)|S-Adenosylmethionine(DB00118)|Tetrahydrofolic acid(DB00116)	TGACCATTCCGGTTTGGTTCT	0.587													17	40					0	0	1	0	0	A	11854429	G	A	11854429	3	1	81	1	0	0	0	0	1	0	0	0	9979	1115	39	1	657	1	MTHFR	1	11854429	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	300	11854429	237396192	109	3725											
MTHFR	4524	broad.mit.edu	37	1	11856453	11856453	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:11856453T>C	ENST00000376592.1	-	4	718	c.590A>G	c.(589-591)tAc>tGc	p.Y197C	MTHFR_ENST00000376585.1_Missense_Mutation_p.Y238C|MTHFR_ENST00000376583.3_Missense_Mutation_p.Y238C|MTHFR_ENST00000376590.3_Missense_Mutation_p.Y197C			P42898	MTHR_HUMAN	methylenetetrahydrofolate reductase (NAD(P)H)	197					blood circulation|folic acid metabolic process	cytosol	methylenetetrahydrofolate reductase (NADPH) activity|protein binding			NS(4)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	Benazepril(DB00542)|Cyanocobalamin(DB00115)|Folic Acid(DB00158)|L-Methionine(DB00134)|Menadione(DB00170)|Methotrexate(DB00563)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|Raltitrexed(DB00293)|Riboflavin(DB00140)|S-Adenosylmethionine(DB00118)|Tetrahydrofolic acid(DB00116)	GCCTTTGGGGTAACCTGCCAA	0.572													9	128					0	0	1	0	0	C	11856453	T	C	11856453	3	2	81	1	0	0	0	0	1	0	0	0	9979	1638	57	3	1412	3	MTHFR	1	11856453	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	2024	11856453	237394168	110	3726											
MTHFR	4524	broad.mit.edu	37	1	11863020	11863020	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:11863020G>A	ENST00000376592.1	-	1	282	c.154C>T	c.(154-156)Cga>Tga	p.R52*	MTHFR_ENST00000376585.1_Nonsense_Mutation_p.R93*|MTHFR_ENST00000376583.3_Nonsense_Mutation_p.R93*|MTHFR_ENST00000376590.3_Nonsense_Mutation_p.R52*			P42898	MTHR_HUMAN	methylenetetrahydrofolate reductase (NAD(P)H)	52			R -> Q (in MTHFRD).		blood circulation|folic acid metabolic process	cytosol	methylenetetrahydrofolate reductase (NADPH) activity|protein binding			NS(4)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	Benazepril(DB00542)|Cyanocobalamin(DB00115)|Folic Acid(DB00158)|L-Methionine(DB00134)|Menadione(DB00170)|Methotrexate(DB00563)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|Raltitrexed(DB00293)|Riboflavin(DB00140)|S-Adenosylmethionine(DB00118)|Tetrahydrofolic acid(DB00116)	GATTCCAATCGCCGCCTCATC	0.552													9	21					0	0	1	0	0	A	11863020	G	A	11863020	4	1	81	1	0	0	0	0	0	1	0	0	9979	1095	38	1	1860	1	MTHFR	1	11863020	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	6567	11863020	237387601	111	3727											
CLCN6	1185	broad.mit.edu	37	1	11888655	11888655	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:11888655C>T	ENST00000346436.6	+	12	1147	c.1095C>T	c.(1093-1095)aaC>aaT	p.N365N	CLCN6_ENST00000312413.6_Intron|CLCN6_ENST00000376492.3_Intron|CLCN6_ENST00000376487.3_Silent_p.N343N|CLCN6_ENST00000376496.3_Silent_p.N365N	NM_001286.3	NP_001277	P51797	CLCN6_HUMAN	chloride channel, voltage-sensitive 6	365					cell volume homeostasis|signal transduction	endosome membrane|integral to membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(4)	36	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		GTATGCGAAACGTGCACCCGA	0.597													10	136					0	0	1	0	0	T	11888655	C	T	11888655	2	4	81	1	0	0	0	0	0	0	0	1	3490	535	19	1		1	CLCN6	1	11888655	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	25635	11888655	237361966	112	3728											
CLCN6	1185	broad.mit.edu	37	1	11898641	11898641	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:11898641C>A	ENST00000346436.6	+	22	2505	c.2453C>A	c.(2452-2454)aCc>aAc	p.T818N	CLCN6_ENST00000312413.6_3'UTR|CLCN6_ENST00000376487.3_Missense_Mutation_p.T796N|CLCN6_ENST00000376496.3_Missense_Mutation_p.T818N	NM_001286.3	NP_001277	P51797	CLCN6_HUMAN	chloride channel, voltage-sensitive 6	818	CBS 2.				cell volume homeostasis|signal transduction	endosome membrane|integral to membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(4)	36	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		TCGCCCAACACCCACGTCTCC	0.617											OREG0013104	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	41					0.0293803	0.0300537	1	1	0	A	11898641	C	A	11898641	3	1	81	1	0	0	0	0	1	0	0	0	3490	507	18	5	2549	5	CLCN6	1	11898641	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	9986	11898641	237351980	113	3729											
KIAA2013	90231	broad.mit.edu	37	1	11983089	11983089	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:11983089C>T	ENST00000376572.3	-	2	1676	c.1491G>A	c.(1489-1491)gtG>gtA	p.V497V	KIAA2013_ENST00000376576.3_Silent_p.V497V	NM_138346.2	NP_612355.1	Q8IYS2	K2013_HUMAN	KIAA2013	497						integral to membrane				endometrium(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	7	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00149)|all_lung(284;0.00189)|Breast(348;0.00586)|Colorectal(325;0.0062)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0556)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.88e-06)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CATCCGCCAGCACGGCCAGGT	0.612													8	24					0	0	1	0	0	T	11983089	C	T	11983089	2	4	81	1	0	0	0	0	0	0	0	1	8309	697	25	2		2	KIAA2013	1	11983089	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	84448	11983089	237267532	114	3730											
KIAA2013	90231	broad.mit.edu	37	1	11983416	11983416	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:11983416G>T	ENST00000376572.3	-	2	1349	c.1164C>A	c.(1162-1164)gaC>gaA	p.D388E	KIAA2013_ENST00000376576.3_Missense_Mutation_p.D388E	NM_138346.2	NP_612355.1	Q8IYS2	K2013_HUMAN	KIAA2013	388						integral to membrane				endometrium(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	7	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00149)|all_lung(284;0.00189)|Breast(348;0.00586)|Colorectal(325;0.0062)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0556)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.88e-06)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		ACTCCATCTGGTCTCGCTCCC	0.642													5	42					0.014758	0.0152304	1	1	0	T	11983416	G	T	11983416	3	4	81	1	0	0	0	0	1	0	0	0	8309	1252	44	5	748	5	KIAA2013	1	11983416	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	327	11983416	237267205	115	3731											
PLOD1	5351	broad.mit.edu	37	1	12017043	12017043	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:12017043T>C	ENST00000196061.4	+	7	740	c.713T>C	c.(712-714)gTc>gCc	p.V238A	PLOD1_ENST00000485046.1_3'UTR|PLOD1_ENST00000376369.3_Missense_Mutation_p.V285A	NM_000302.3	NP_000293.2	Q02809	PLOD1_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1	238					epidermis development|hydroxylysine biosynthetic process|protein modification process|response to hypoxia	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein homodimerization activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000809)|KIRC - Kidney renal clear cell carcinoma(229;0.00267)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	Minoxidil(DB00350)|Succinic acid(DB00139)|Vitamin C(DB00126)	ACCCTCCCGGTCCTGATCCAT	0.607													7	67					0	0	1	0	0	C	12017043	T	C	12017043	3	2	81	1	0	0	0	0	1	0	0	0	12149	1667	58	3	739	3	PLOD1	1	12017043	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	33627	12017043	237233578	116	3732											
PLOD1	5351	broad.mit.edu	37	1	12025566	12025566	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:12025566C>T	ENST00000196061.4	+	14	1527	c.1500C>T	c.(1498-1500)caC>caT	p.H500H	PLOD1_ENST00000376369.3_Silent_p.H547H	NM_000302.3	NP_000293.2	Q02809	PLOD1_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1	500					epidermis development|hydroxylysine biosynthetic process|protein modification process|response to hypoxia	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein homodimerization activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000809)|KIRC - Kidney renal clear cell carcinoma(229;0.00267)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	Minoxidil(DB00350)|Succinic acid(DB00139)|Vitamin C(DB00126)	CCAACCGGCACACCCTTGGCC	0.667													21	27					0	0	1	0	0	T	12025566	C	T	12025566	2	4	81	1	0	0	0	0	0	0	0	1	12149	477	17	2		2	PLOD1	1	12025566	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	8523	12025566	237225055	117	3733											
PLOD1	5351	broad.mit.edu	37	1	12034842	12034842	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:12034842G>A	ENST00000196061.4	+	19	2188	c.2161G>A	c.(2161-2163)Gca>Aca	p.A721T	PLOD1_ENST00000376369.3_Missense_Mutation_p.A768T	NM_000302.3	NP_000293.2	Q02809	PLOD1_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1	721	Fe2OG dioxygenase.				epidermis development|hydroxylysine biosynthetic process|protein modification process|response to hypoxia	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein homodimerization activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000809)|KIRC - Kidney renal clear cell carcinoma(229;0.00267)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	Minoxidil(DB00350)|Succinic acid(DB00139)|Vitamin C(DB00126)	CCGCTACATCGCAGTCTCCTT	0.622													29	39					0	0	1	0	0	A	12034842	G	A	12034842	3	1	81	1	0	0	0	0	1	0	0	0	12149	1087	38	1	2235	1	PLOD1	1	12034842	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	9276	12034842	237215779	118	3734											
MFN2	9927	broad.mit.edu	37	1	12056244	12056244	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:12056244G>A	ENST00000235329.5	+	5	665	c.343G>A	c.(343-345)Gcc>Acc	p.A115T	MFN2_ENST00000444836.1_Missense_Mutation_p.A115T	NM_014874.3	NP_055689.1	O95140	MFN2_HUMAN	mitofusin 2	115					blood coagulation|mitochondrial fusion|mitochondrial membrane organization|mitochondrion localization|negative regulation of Ras protein signal transduction|negative regulation of smooth muscle cell proliferation|protein targeting to mitochondrion	cytosol|integral to membrane|intrinsic to mitochondrial outer membrane	GTP binding|GTPase activity|ubiquitin protein ligase binding			endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	20	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.25e-06)|COAD - Colon adenocarcinoma(227;0.000302)|BRCA - Breast invasive adenocarcinoma(304;0.000329)|Kidney(185;0.000896)|KIRC - Kidney renal clear cell carcinoma(229;0.00274)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)		CGTGATCAATGCCATGCTCTG	0.517													24	30					0	0	1	0	0	A	12056244	G	A	12056244	3	1	81	1	0	0	0	0	1	0	0	0	9574	1319	46	2	353	2	MFN2	1	12056244	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	21402	12056244	237194377	119	3735											
TNFRSF8	943	broad.mit.edu	37	1	12170199	12170199	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:12170199C>T	ENST00000263932.2	+	6	836	c.614C>T	c.(613-615)gCt>gTt	p.A205V	TNFRSF8_ENST00000417814.2_Missense_Mutation_p.A94V	NM_001243.3|NM_001281430.1	NP_001234.2|NP_001268359.1	P28908	TNR8_HUMAN	tumor necrosis factor receptor superfamily, member 8	205					cellular response to mechanical stimulus|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of TRAIL biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;8.71e-05)|all_lung(284;9.89e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)		CAGGAAGCTGCTTCTAAACTG	0.637													11	28					0	0	1	0	0	T	12170199	C	T	12170199	3	4	81	1	0	0	0	0	1	0	0	0	16359	797	28	2	636	2	TNFRSF8	1	12170199	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	113955	12170199	237080422	120	3736											
TNFRSF1B	7133	broad.mit.edu	37	1	12248851	12248851	+	Splice_Site	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:12248851A>G	ENST00000376259.3	+	2	167		c.e2-1		TNFRSF1B_ENST00000536782.1_Splice_Site|TNFRSF1B_ENST00000492361.1_Intron	NM_001066.2	NP_001057.1	P20333	TNR1B_HUMAN	tumor necrosis factor receptor superfamily, member 1B						apoptosis	extracellular region|integral to membrane|membrane raft|plasma membrane	tumor necrosis factor receptor activity			central_nervous_system(1)|liver(1)|lung(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	Ovarian(185;0.249)	Lung NSC(185;8.72e-05)|all_lung(284;9.92e-05)|Renal(390;0.000147)|Colorectal(325;0.000584)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;5.52e-07)|COAD - Colon adenocarcinoma(227;0.000345)|BRCA - Breast invasive adenocarcinoma(304;0.000353)|Kidney(185;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00302)|STAD - Stomach adenocarcinoma(313;0.00815)|READ - Rectum adenocarcinoma(331;0.0284)	Etanercept(DB00005)|Infliximab(DB00065)	TCTTCCTTCCAGGTGGCATTT	0.617													15	32					0	0	1	0	0	G	12248851	A	G	12248851	5	3	81	1	0	0	0	0	0	0	1	0	16354	202	7	3	83	3	TNFRSF1B	1	12248851	Splice_Site	SNP	A	TCGA-DU-6392-01A-11D-1705-08	78652	12248851	237001770	121	3737											
TNFRSF1B	7133	broad.mit.edu	37	1	12262066	12262066	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:12262066G>A	ENST00000376259.3	+	9	1032	c.943G>A	c.(943-945)Gag>Aag	p.E315K	TNFRSF1B_ENST00000492361.1_3'UTR	NM_001066.2	NP_001057.1	P20333	TNR1B_HUMAN	tumor necrosis factor receptor superfamily, member 1B	315					apoptosis	extracellular region|integral to membrane|membrane raft|plasma membrane	tumor necrosis factor receptor activity			central_nervous_system(1)|liver(1)|lung(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	Ovarian(185;0.249)	Lung NSC(185;8.72e-05)|all_lung(284;9.92e-05)|Renal(390;0.000147)|Colorectal(325;0.000584)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;5.52e-07)|COAD - Colon adenocarcinoma(227;0.000345)|BRCA - Breast invasive adenocarcinoma(304;0.000353)|Kidney(185;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00302)|STAD - Stomach adenocarcinoma(313;0.00815)|READ - Rectum adenocarcinoma(331;0.0284)	Etanercept(DB00005)|Infliximab(DB00065)	ACAGGGCCCCGAGCAGCAGCA	0.667													9	9					0	0	1	0	0	A	12262066	G	A	12262066	3	1	81	1	0	0	0	0	1	0	0	0	16354	1059	37	1	977	1	TNFRSF1B	1	12262066	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	13215	12262066	236988555	122	3738											
VPS13D	55187	broad.mit.edu	37	1	12343686	12343686	+	Missense_Mutation	SNP	G	G	A	rs149109225		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:12343686G>A	ENST00000358136.3	+	21	5657	c.5527G>A	c.(5527-5529)Gca>Aca	p.A1843T	VPS13D_ENST00000356315.4_Missense_Mutation_p.A1843T	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	1843					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		AGACAACCACGCAATGAGGCT	0.483													45	77					0	0	1	0	0	A	12343686	G	A	12343686	3	1	81	1	0	0	0	0	1	0	0	0	17252	1087	38	1	5605	1	VPS13D	1	12343686	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	81620	12343686	236906935	123	3739											
VPS13D	55187	broad.mit.edu	37	1	12353762	12353762	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:12353762G>A	ENST00000358136.3	+	24	6163		c.e24+1		VPS13D_ENST00000356315.4_Splice_Site	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)						protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		GGGGCAGACGGTAGGTAGCCT	0.512													6	18					0	0	1	0	0	A	12353762	G	A	12353762	5	1	81	1	0	0	0	0	0	0	1	0	17252	1275	44	2	6124	2	VPS13D	1	12353762	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	10076	12353762	236896859	124	3740											
VPS13D	55187	broad.mit.edu	37	1	12359362	12359362	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:12359362T>C	ENST00000358136.3	+	25	6267	c.6137T>C	c.(6136-6138)gTa>gCa	p.V2046A	VPS13D_ENST00000356315.4_Missense_Mutation_p.V2046A	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	2046					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		AATCTGATTGTAGCAAATTTG	0.433													36	48					0	0	1	0	0	C	12359362	T	C	12359362	3	2	81	1	0	0	0	0	1	0	0	0	17252	1638	57	3	6231	3	VPS13D	1	12359362	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	5600	12359362	236891259	125	3741											
VPS13D	55187	broad.mit.edu	37	1	12368699	12368699	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:12368699G>A	ENST00000358136.3	+	27	6780		c.e27+1		VPS13D_ENST00000356315.4_Splice_Site	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)						protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		ATTTGGACAAGTGAGTGtttt	0.488													5	49					0	0	1	0	0	A	12368699	G	A	12368699	5	1	81	1	0	0	0	0	0	0	1	0	17252	1043	36	2	6753	2	VPS13D	1	12368699	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	9337	12368699	236881922	126	3742											
VPS13D	55187	broad.mit.edu	37	1	12418629	12418629	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:12418629A>G	ENST00000358136.3	+	50	10243	c.10113A>G	c.(10111-10113)ggA>ggG	p.G3371G	VPS13D_ENST00000356315.4_Silent_p.G3346G	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	3370					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		TCCAGCAAGGAAACCGCCCAG	0.552													18	25					0	0	1	0	0	G	12418629	A	G	12418629	2	3	81	1	0	0	0	0	0	0	0	1	17252	233	9	3		3	VPS13D	1	12418629	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	49930	12418629	236831992	127	3743											
DHRS3	9249	broad.mit.edu	37	1	12638855	12638855	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:12638855C>T	ENST00000376223.2	-	4	972	c.589G>A	c.(589-591)Gcc>Acc	p.A197T		NM_004753.4	NP_004744.2	O75911	DHRS3_HUMAN	dehydrogenase/reductase (SDR family) member 3	197					retinol metabolic process|visual perception	integral to membrane	electron carrier activity|NADP-retinol dehydrogenase activity|nucleotide binding			cervix(1)|large_intestine(4)|lung(2)|prostate(1)|skin(1)	9	Ovarian(185;0.249)	Lung NSC(185;4.11e-05)|all_lung(284;4.58e-05)|Renal(390;0.000147)|Colorectal(325;0.000585)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|Colorectal(212;9.25e-07)|COAD - Colon adenocarcinoma(227;0.000326)|BRCA - Breast invasive adenocarcinoma(304;0.000344)|Kidney(185;0.00235)|KIRC - Kidney renal clear cell carcinoma(229;0.00656)|STAD - Stomach adenocarcinoma(313;0.00798)|READ - Rectum adenocarcinoma(331;0.0419)	Vitamin A(DB00162)	TCCATGAAGGCGAAGGCTGAC	0.622													12	7					0	0	1	0	0	T	12638855	C	T	12638855	3	4	81	1	0	0	0	0	1	0	0	0	4519	768	27	1	331	1	DHRS3	1	12638855	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	220226	12638855	236611766	128	3744											
AADACL4	343066	broad.mit.edu	37	1	12711226	12711226	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:12711226C>T	ENST00000376221.1	+	2	253	c.253C>T	c.(253-255)Cct>Tct	p.P85S		NM_001013630.1	NP_001013652.1	Q5VUY2	ADCL4_HUMAN	arylacetamide deacetylase-like 4	85						integral to membrane	carboxylesterase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)	17	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384)		TAAAAAGGACCCTGAACTTGT	0.483													32	58					0	0	1	0	0	T	12711226	C	T	12711226	3	4	81	1	0	0	0	0	1	0	0	0	13	623	22	2	259	2	AADACL4	1	12711226	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	72371	12711226	236539395	129	3745											
C1orf158	93190	broad.mit.edu	37	1	12806454	12806454	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:12806454G>A	ENST00000288048.5	+	1	292	c.76G>A	c.(76-78)Gtg>Atg	p.V26M	C1orf158_ENST00000474179.1_3'UTR|C1orf158_ENST00000376210.3_Missense_Mutation_p.V26M	NM_152290.2	NP_689503.2	Q8N1D5	CA158_HUMAN	chromosome 1 open reading frame 158	26										central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(1)|ovary(1)|skin(2)|urinary_tract(3)	10	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00575)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		TTCAACGAAAGTGCTCACTGG	0.488													14	32					0	0	1	0	0	A	12806454	G	A	12806454	3	1	81	1	0	0	0	0	1	0	0	0	2020	1029	36	2	78	2	C1orf158	1	12806454	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	95228	12806454	236444167	130	3746											
PRAMEF12	390999	broad.mit.edu	37	1	12837158	12837158	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:12837158C>A	ENST00000357726.4	+	3	895	c.868C>A	c.(868-870)Ctc>Atc	p.L290I		NM_001080830.1	NP_001074299.1	O95522	PRA12_HUMAN	PRAME family member 12	290										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1)	23	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TCCCAGGTGTCTCCAGGCCCC	0.527													63	97					7.59065e-32	1.01335e-31	1	1	0	A	12837158	C	A	12837158	3	1	81	1	0	0	0	0	1	0	0	0	12476	913	32	4	878	4	PRAMEF12	1	12837158	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	30704	12837158	236413463	131	3747											
PRAMEF1	65121	broad.mit.edu	37	1	12854399	12854399	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:12854399A>G	ENST00000332296.7	+	3	726	c.623A>G	c.(622-624)cAa>cGa	p.Q208R		NM_023013.2	NP_075389.1	O95521	PRAM1_HUMAN	PRAME family member 1	208										cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		AATAGTATTCAAGAGCTGGAA	0.398													30	421					0	0	1	0	0	G	12854399	A	G	12854399	3	3	81	1	0	0	0	0	1	0	0	0	12474	130	5	3	629	3	PRAMEF1	1	12854399	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	17241	12854399	236396222	132	3748											
PRAMEF1	65121	broad.mit.edu	37	1	12856088	12856088	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:12856088C>A	ENST00000332296.7	+	4	1471	c.1368C>A	c.(1366-1368)ccC>ccA	p.P456P	PRAMEF1_ENST00000400814.3_Silent_p.P211P	NM_023013.2	NP_075389.1	O95521	PRAM1_HUMAN	PRAME family member 1	456										cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GCCCCACCCCCTGCCCTTCCT	0.557													15	183					1.66031e-10	2.03454e-10	1	1	0	A	12856088	C	A	12856088	2	1	81	1	0	0	0	0	0	0	0	1	12474	668	24	4		4	PRAMEF1	1	12856088	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1689	12856088	236394533	133	3749											
HNRNPCL1	343069	broad.mit.edu	37	1	12907884	12907884	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:12907884C>T	ENST00000317869.6	-	2	484	c.259G>A	c.(259-261)Gag>Aag	p.E87K		NM_001013631.1|NM_001136561.2|NM_001146181.1	NP_001013653.1|NP_001130033.2|NP_001139653.1			heterogeneous nuclear ribonucleoprotein C-like 1											NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2)	29						ACTTTTGGCTCTGCAGCCAGG	0.478													17	150					0	0	1	0	0	T	12907884	C	T	12907884	3	4	81	1	0	0	0	0	1	0	0	0	7304	922	32	2	624	2	HNRNPCL1	1	12907884	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	51796	12907884	236342737	134	3750											
PRDM2	7799	broad.mit.edu	37	1	14105542	14105542	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:14105542C>T	ENST00000235372.7	+	8	2108	c.1252C>T	c.(1252-1254)Cgg>Tgg	p.R418W	PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000311066.5_Missense_Mutation_p.R418W|PRDM2_ENST00000343137.4_Missense_Mutation_p.R217W|PRDM2_ENST00000413440.1_Missense_Mutation_p.R217W|PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000376048.5_Intron	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	418						Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		AGGGTTAAAGCGGAAACCCAG	0.512													14	25					0	0	1	0	0	T	14105542	C	T	14105542	3	4	81	1	0	0	0	0	1	0	0	0	12510	759	27	1	1278	1	PRDM2	1	14105542	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1197658	14105542	235145079	135	3751											
PRDM2	7799	broad.mit.edu	37	1	14106983	14106983	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:14106983G>A	ENST00000235372.7	+	8	3549	c.2693G>A	c.(2692-2694)gGc>gAc	p.G898D	PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000311066.5_Missense_Mutation_p.G898D|PRDM2_ENST00000343137.4_Missense_Mutation_p.G697D|PRDM2_ENST00000413440.1_Missense_Mutation_p.G697D|PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000376048.5_Intron	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	898						Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		GAATATAATGGCATCGATTTA	0.478													32	62					0	0	1	0	0	A	14106983	G	A	14106983	3	1	81	1	0	0	0	0	1	0	0	0	12510	1203	42	2	2719	2	PRDM2	1	14106983	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1441	14106983	235143638	136	3752											
PRDM2	7799	broad.mit.edu	37	1	14107097	14107097	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:14107097C>A	ENST00000235372.7	+	8	3663	c.2807C>A	c.(2806-2808)cCt>cAt	p.P936H	PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000311066.5_Missense_Mutation_p.P936H|PRDM2_ENST00000343137.4_Missense_Mutation_p.P735H|PRDM2_ENST00000413440.1_Missense_Mutation_p.P735H|PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000376048.5_Intron	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	936	Pro-rich.					Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		TTCCCTGCCCCTACTGTTGAG	0.562													6	103					0.00116845	0.00124301	1	1	0	A	14107097	C	A	14107097	3	1	81	1	0	0	0	0	1	0	0	0	12510	681	24	4	2833	4	PRDM2	1	14107097	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	114	14107097	235143524	137	3753											
TMEM51	55092	broad.mit.edu	37	1	15546060	15546060	+	Missense_Mutation	SNP	G	G	A	rs149266693		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:15546060G>A	ENST00000428417.1	+	3	1029	c.583G>A	c.(583-585)Gcc>Acc	p.A195T	TMEM51_ENST00000434578.2_3'UTR|TMEM51_ENST00000376008.2_Missense_Mutation_p.A195T|TMEM51_ENST00000376014.3_Missense_Mutation_p.A195T|TMEM51_ENST00000400796.3_Missense_Mutation_p.A195T	NM_001136217.1	NP_001129689.1	Q9NW97	TMM51_HUMAN	transmembrane protein 51	195						integral to membrane				breast(1)|central_nervous_system(1)|cervix(3)|large_intestine(2)|lung(5)|prostate(2)	14		Renal(390;0.00145)|Breast(348;0.00186)|Colorectal(325;0.00215)|all_lung(284;0.00459)|Lung NSC(340;0.0104)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;2.07e-06)|COAD - Colon adenocarcinoma(227;7.14e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000175)|KIRC - Kidney renal clear cell carcinoma(229;0.00141)|STAD - Stomach adenocarcinoma(313;0.00644)|READ - Rectum adenocarcinoma(331;0.0751)		CTCTAAGTTGGCCAAACGACT	0.547													32	37					0	0	1	0	0	A	15546060	G	A	15546060	3	1	81	1	0	0	0	0	1	0	0	0	16237	1203	42	2	589	2	TMEM51	1	15546060	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1438963	15546060	233704561	138	3754											
CELA2A	63036	broad.mit.edu	37	1	15789268	15789268	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:15789268C>A	ENST00000359621.4	+	4	293	c.268C>A	c.(268-270)Ctc>Atc	p.L90I		NM_033440.2	NP_254275.1	P08217	CEL2A_HUMAN	chymotrypsin-like elastase family, member 2A	90	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|ovary(2)|prostate(1)	16						CCGGCACAACCTCTACGTTGC	0.592													8	74					0.000157383	0.000171784	1	1	0	A	15789268	C	A	15789268	3	1	81	1	0	0	0	0	1	0	0	0	3233	681	24	4	282	4	CELA2A	1	15789268	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	243208	15789268	233461353	139	3755											
CELA2B	51032	broad.mit.edu	37	1	15802621	15802621	+	Translation_Start_Site	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:15802621A>G	ENST00000375910.3	+	1	26	c.1A>G	c.(1-3)Atg>Gtg	p.M1V	CELA2B_ENST00000494280.1_Intron	NM_015849.2	NP_056933	P08218	CEL2B_HUMAN	chymotrypsin-like elastase family, member 2B	1					proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)	8						CGGACACACCATGATTAGGAC	0.547													4	48					0	0	1	0	0	G	15802621	A	G	15802621	1	3	81	1	0	0	0	0	0	0	0	0	3234	217	8	3		3	CELA2B	1	15802621	Translation_Start_Site	SNP	A	TCGA-DU-6392-01A-11D-1705-08	13353	15802621	233448000	140	3756											
CELA2B	51032	broad.mit.edu	37	1	15802639	15802639	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:15802639C>T	ENST00000375910.3	+	1	44	c.19C>T	c.(19-21)Ctg>Ttg	p.L7L	CELA2B_ENST00000494280.1_Intron	NM_015849.2	NP_056933	P08218	CEL2B_HUMAN	chymotrypsin-like elastase family, member 2B	7					proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)	8						GACCCTGCTGCTGTCCACTTT	0.547													20	30					0	0	1	0	0	T	15802639	C	T	15802639	2	4	81	1	0	0	0	0	0	0	0	1	3234	796	28	2		2	CELA2B	1	15802639	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	18	15802639	233447982	141	3757											
DDI2	84301	broad.mit.edu	37	1	15964861	15964861	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:15964861G>T	ENST00000480945.1	+	5	863	c.692G>T	c.(691-693)gGc>gTc	p.G231V		NM_032341.4	NP_115717.3	Q5TDH0	DDI2_HUMAN	DNA-damage inducible 1 homolog 2 (S. cerevisiae)	231					proteolysis		aspartic-type endopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|stomach(1)	17		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00327)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.03e-07)|COAD - Colon adenocarcinoma(227;4.48e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)		GAAAGTTTTGGCCAAGTAGTG	0.418													78	116					4.03997e-35	5.41012e-35	1	1	0	T	15964861	G	T	15964861	3	4	81	1	0	0	0	0	1	0	0	0	4352	1203	42	5	710	5	DDI2	1	15964861	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	162222	15964861	233285760	142	3758											
RSC1A1	6248	broad.mit.edu	37	1	15987550	15987550	+	Missense_Mutation	SNP	C	C	T	rs144434741		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:15987550C>T	ENST00000345034.1	+	1	1187	c.1187C>T	c.(1186-1188)tCt>tTt	p.S396F	DDI2_ENST00000480945.1_3'UTR	NM_006511.1	NP_006502.1	Q92681	RSCA1_HUMAN	regulatory solute carrier protein, family 1, member 1	396					negative regulation of transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transport	cell junction|Golgi apparatus|nucleus	ion channel inhibitor activity			kidney(1)|large_intestine(3)|lung(6)|ovary(1)	11		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00276)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.73e-07)|COAD - Colon adenocarcinoma(227;3.49e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000114)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		AAAGACCTTTCTGAAAGATGG	0.398													28	31					0	0	1	0	0	T	15987550	C	T	15987550	3	4	81	1	0	0	0	0	1	0	0	0	13750	913	32	2	1189	2	RSC1A1	1	15987550	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	22689	15987550	233263071	143	3759											
PLEKHM2	23207	broad.mit.edu	37	1	16059187	16059187	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:16059187G>A	ENST00000375799.3	+	19	3113	c.2886G>A	c.(2884-2886)ctG>ctA	p.L962L	PLEKHM2_ENST00000375793.2_Silent_p.L942L|PLEKHM2_ENST00000477849.1_3'UTR|RP11-288I21.1_ENST00000453804.1_RNA	NM_015164.2	NP_055979.2	Q8IWE5	PKHM2_HUMAN	pleckstrin homology domain containing, family M (with RUN domain) member 2	962					Golgi organization	cytoplasm	kinesin binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.000259)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00057)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)		ACCGATTGCTGTCTGCACTGA	0.617													3	4					0	0	1	0	0	A	16059187	G	A	16059187	2	1	81	1	0	0	0	0	0	0	0	1	12129	1364	48	2		2	PLEKHM2	1	16059187	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	71637	16059187	233191434	144	3760											
PLEKHM2	23207	broad.mit.edu	37	1	16060322	16060322	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:16060322G>A	ENST00000375799.3	+	20	3180	c.2953G>A	c.(2953-2955)Gcc>Acc	p.A985T	PLEKHM2_ENST00000375793.2_Missense_Mutation_p.A965T|PLEKHM2_ENST00000477849.1_3'UTR|RP11-288I21.1_ENST00000453804.1_RNA	NM_015164.2	NP_055979.2	Q8IWE5	PKHM2_HUMAN	pleckstrin homology domain containing, family M (with RUN domain) member 2	985					Golgi organization	cytoplasm	kinesin binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.000259)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00057)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)		GATCCAGGAAGCCTCCAACAA	0.637													20	37					0	0	1	0	0	A	16060322	G	A	16060322	3	1	81	1	0	0	0	0	1	0	0	0	12129	971	34	2	3031	2	PLEKHM2	1	16060322	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1135	16060322	233190299	145	3761											
TMEM82	388595	broad.mit.edu	37	1	16070707	16070707	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:16070707C>T	ENST00000375782.1	+	4	527	c.389C>T	c.(388-390)tCg>tTg	p.S130L	TMEM82_ENST00000465575.1_3'UTR|RP11-169K16.4_ENST00000418525.1_RNA	NM_001013641.1	NP_001013663.1	A0PJX8	TMM82_HUMAN	transmembrane protein 82	130	Leu-rich.					integral to membrane				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|lung(5)|prostate(1)|skin(1)	13		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.73e-07)|COAD - Colon adenocarcinoma(227;3.49e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000114)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TGCCAGTACTCGCTGGGCTGC	0.706													6	8					0	0	1	0	0	T	16070707	C	T	16070707	3	4	81	1	0	0	0	0	1	0	0	0	16266	893	31	1	403	1	TMEM82	1	16070707	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	10385	16070707	233179914	146	3762											
SPEN	23013	broad.mit.edu	37	1	16235929	16235929	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:16235929G>A	ENST00000375759.3	+	4	1199	c.995G>A	c.(994-996)cGt>cAt	p.R332H		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	332					interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		GATGAGCCCCGTAAAAGTTTT	0.458													41	83					0	0	1	0	0	A	16235929	G	A	16235929	3	1	81	1	0	0	0	0	1	0	0	0	15094	1145	40	1	1009	1	SPEN	1	16235929	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	165222	16235929	233014692	147	3763											
SPEN	23013	broad.mit.edu	37	1	16245447	16245447	+	Silent	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:16245447A>T	ENST00000375759.3	+	7	1626	c.1422A>T	c.(1420-1422)ggA>ggT	p.G474G		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	474	RRM 3.				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		AAGTAAATGGAGTTCCTCAGT	0.353													5	42					0	0	1	0	0	T	16245447	A	T	16245447	2	4	81	1	0	0	0	0	0	0	0	1	15094	291	11	5		5	SPEN	1	16245447	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	9518	16245447	233005174	148	3764											
SPEN	23013	broad.mit.edu	37	1	16254739	16254739	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:16254739C>T	ENST00000375759.3	+	11	2208	c.2004C>T	c.(2002-2004)taC>taT	p.Y668Y		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	668	Arg-rich.|Tyr-rich.				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		AAGGAGACTACTATGAATCAC	0.443													11	109					0	0	1	0	0	T	16254739	C	T	16254739	2	4	81	1	0	0	0	0	0	0	0	1	15094	576	20	2		2	SPEN	1	16254739	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	9292	16254739	232995882	149	3765											
SPEN	23013	broad.mit.edu	37	1	16260357	16260357	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:16260357C>A	ENST00000375759.3	+	11	7826	c.7622C>A	c.(7621-7623)cCc>cAc	p.P2541H		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	2541	RID.				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		CTCATGGACCCCAAGTATGTG	0.582													32	244					2.08457e-15	2.65965e-15	1	1	0	A	16260357	C	A	16260357	3	1	81	1	0	0	0	0	1	0	0	0	15094	623	22	5	7664	5	SPEN	1	16260357	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	5618	16260357	232990264	150	3766											
SPEN	23013	broad.mit.edu	37	1	16260841	16260841	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:16260841G>A	ENST00000375759.3	+	11	8310	c.8106G>A	c.(8104-8106)ggG>ggA	p.G2702G		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	2702	RID.				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		TTCTTACGGGGCCAGTGAATG	0.592													16	36					0	0	1	0	0	A	16260841	G	A	16260841	2	1	81	1	0	0	0	0	0	0	0	1	15094	1190	42	2		2	SPEN	1	16260841	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	484	16260841	232989780	151	3767											
ZBTB17	7709	broad.mit.edu	37	1	16272784	16272784	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:16272784C>T	ENST00000375733.2	-	5	638	c.400G>A	c.(400-402)Gac>Aac	p.D134N	ZBTB17_ENST00000537142.1_Missense_Mutation_p.D52N|ZBTB17_ENST00000479282.1_5'UTR|ZBTB17_ENST00000448462.2_Missense_Mutation_p.D71N|ZBTB17_ENST00000375743.4_Missense_Mutation_p.D134N			Q13105	ZBT17_HUMAN	zinc finger and BTB domain containing 17	134					negative regulation of cell cycle	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)	15		Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|Colorectal(212;4.12e-07)|COAD - Colon adenocarcinoma(227;2.43e-05)|BRCA - Breast invasive adenocarcinoma(304;9.97e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0649)		GCTCTCTTGTCCCCTCCTGGA	0.622													39	71					0	0	1	0	0	T	16272784	C	T	16272784	3	4	81	1	0	0	0	0	1	0	0	0	17586	855	30	2	2059	2	ZBTB17	1	16272784	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	11943	16272784	232977837	152	3768											
HSPB7	27129	broad.mit.edu	37	1	16343580	16343580	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:16343580G>A	ENST00000311890.9	-	2	1148	c.322C>T	c.(322-324)Cgg>Tgg	p.R108W	HSPB7_ENST00000411503.1_Intron|HSPB7_ENST00000487046.1_Missense_Mutation_p.R113W|HSPB7_ENST00000375718.4_Missense_Mutation_p.R183W|HSPB7_ENST00000406363.2_Missense_Mutation_p.R112W	NM_014424.4	NP_055239.1	Q9UBY9	HSPB7_HUMAN	heat shock 27kDa protein family, member 7 (cardiovascular)	108					regulation of heart contraction|response to heat|response to unfolded protein	Cajal body	protein C-terminus binding			breast(1)|large_intestine(1)|liver(1)|lung(6)|skin(1)	10		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.21e-08)|COAD - Colon adenocarcinoma(227;5.5e-06)|BRCA - Breast invasive adenocarcinoma(304;9.08e-05)|Kidney(64;0.000162)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00656)|READ - Rectum adenocarcinoma(331;0.0649)		TTCTCAGCCCGCACCTCGATG	0.572													20	60					0	0	1	0	0	A	16343580	G	A	16343580	3	1	81	1	0	0	0	0	1	0	0	0	7466	1086	38	1	198	1	HSPB7	1	16343580	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	70796	16343580	232907041	153	3769											
CLCNKA	1187	broad.mit.edu	37	1	16353030	16353030	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:16353030G>T	ENST00000375692.1	+	7	626		c.e7-1		CLCNKA_ENST00000420078.1_Splice_Site|CLCNKA_ENST00000464764.1_Splice_Site|CLCNKA_ENST00000331433.4_Splice_Site|CLCNKA_ENST00000439316.2_Splice_Site			P51800	CLCKA_HUMAN	chloride channel, voltage-sensitive Ka						excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1)	19		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	Niflumic Acid(DB04552)	TCCCTCTGCAGGGCCCTTTCG	0.662													18	18					3.99206e-14	5.05776e-14	1	1	0	T	16353030	G	T	16353030	5	4	81	1	0	0	0	0	0	0	1	0	3492	1014	35	4	516	4	CLCNKA	1	16353030	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	9450	16353030	232897591	154	3770											
CLCNKA	1187	broad.mit.edu	37	1	16353844	16353844	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:16353844C>A	ENST00000375692.1	+	9	823	c.695C>A	c.(694-696)tCt>tAt	p.S232Y	CLCNKA_ENST00000420078.1_Missense_Mutation_p.S232Y|CLCNKA_ENST00000464764.1_3'UTR|CLCNKA_ENST00000331433.4_Missense_Mutation_p.S232Y|CLCNKA_ENST00000439316.2_Missense_Mutation_p.S189Y			P51800	CLCKA_HUMAN	chloride channel, voltage-sensitive Ka	232					excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1)	19		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	Niflumic Acid(DB04552)	TCCCACTTCTCTGTCCGGGAT	0.647													31	114					1.45844e-13	1.84069e-13	1	1	0	A	16353844	C	A	16353844	3	1	81	1	0	0	0	0	1	0	0	0	3492	913	32	4	721	4	CLCNKA	1	16353844	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	814	16353844	232896777	155	3771											
CLCNKA	1187	broad.mit.edu	37	1	16359021	16359021	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:16359021G>T	ENST00000375692.1	+	19	2054	c.1926G>T	c.(1924-1926)caG>caT	p.Q642H	CLCNKA_ENST00000420078.1_Splice_Site_p.Q642H|CLCNKA_ENST00000464764.1_3'UTR|CLCNKA_ENST00000331433.4_Splice_Site_p.Q643H|CLCNKA_ENST00000439316.2_Splice_Site_p.Q600H			P51800	CLCKA_HUMAN	chloride channel, voltage-sensitive Ka	643	CBS 2.				excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1)	19		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	Niflumic Acid(DB04552)	CCTTGCACCAGGTAACAAGTA	0.642											OREG0013132	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	16	84					8.60227e-14	1.08766e-13	1	1	0	T	16359021	G	T	16359021	5	4	81	1	0	0	0	0	0	0	1	0	3492	1014	35	4	1995	4	CLCNKA	1	16359021	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	5177	16359021	232891600	156	3772											
CLCNKB	1188	broad.mit.edu	37	1	16374411	16374411	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:16374411C>A	ENST00000375679.4	+	5	481	c.370C>A	c.(370-372)Ccg>Acg	p.P124T		NM_000085.4	NP_000076.2			chloride channel, voltage-sensitive Kb											breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	21		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)		TTCTGGAATCCCGGAGGTGAA	0.547													7	52					0.00307968	0.00324365	1	1	0	A	16374411	C	A	16374411	3	1	81	1	0	0	0	0	1	0	0	0	3493	623	22	5	384	5	CLCNKB	1	16374411	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	15390	16374411	232876210	157	3773											
CLCNKB	1188	broad.mit.edu	37	1	16374441	16374441	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:16374441G>A	ENST00000375679.4	+	5	511	c.400G>A	c.(400-402)Gtc>Atc	p.V134I		NM_000085.4	NP_000076.2			chloride channel, voltage-sensitive Kb											breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	21		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)		GGCGGGTGTGGTCTTGGAGGA	0.582													33	33					0	0	1	0	0	A	16374441	G	A	16374441	3	1	81	1	0	0	0	0	1	0	0	0	3493	1261	44	2	414	2	CLCNKB	1	16374441	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	30	16374441	232876180	158	3774											
CLCNKB	1188	broad.mit.edu	37	1	16376349	16376349	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:16376349T>C	ENST00000375679.4	+	10	1017	c.906T>C	c.(904-906)tgT>tgC	p.C302C	CLCNKB_ENST00000375667.3_Silent_p.C133C	NM_000085.4	NP_000076.2			chloride channel, voltage-sensitive Kb											breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	21		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)		ACCTCTTCTGTCAGCGAATCT	0.612													55	89					0	0	1	0	0	C	16376349	T	C	16376349	2	2	81	1	0	0	0	0	0	0	0	1	3493	1673	58	3		3	CLCNKB	1	16376349	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	1908	16376349	232874272	159	3775											
CLCNKB	1188	broad.mit.edu	37	1	16377038	16377038	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:16377038C>A	ENST00000375679.4	+	11	1107	c.996C>A	c.(994-996)acC>acA	p.T332T	CLCNKB_ENST00000375667.3_Silent_p.T163T	NM_000085.4	NP_000076.2			chloride channel, voltage-sensitive Kb											breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	21		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)		CTCTGGCCACCTTGGTTCTCG	0.647													6	62					0.00198382	0.00209725	1	1	0	A	16377038	C	A	16377038	2	1	81	1	0	0	0	0	0	0	0	1	3493	668	24	4		4	CLCNKB	1	16377038	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	689	16377038	232873583	160	3776											
EPHA2	1969	broad.mit.edu	37	1	16456915	16456915	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:16456915C>A	ENST00000358432.5	-	15	2630		c.e15-1			NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2						activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)	CTTTCATCACCTGGCGGGGCA	0.632													5	33					0.014758	0.0152304	1	1	0	A	16456915	C	A	16456915	5	1	81	1	0	0	0	0	0	0	1	0	5195	695	24	4	467	4	EPHA2	1	16456915	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	79877	16456915	232793706	161	3777											
EPHA2	1969	broad.mit.edu	37	1	16461639	16461639	+	Missense_Mutation	SNP	C	C	T	rs141123184		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:16461639C>T	ENST00000358432.5	-	7	1628	c.1474G>A	c.(1474-1476)Gtg>Atg	p.V492M		NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	492	Fibronectin type-III 2.				activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)	TCCAGGGTCACGGAGAAACCC	0.682													56	107					0	0	1	0	0	T	16461639	C	T	16461639	3	4	81	1	0	0	0	0	1	0	0	0	5195	536	19	1	1500	1	EPHA2	1	16461639	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	4724	16461639	232788982	162	3778											
ARHGEF19	128272	broad.mit.edu	37	1	16535349	16535349	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:16535349C>A	ENST00000270747.3	-	2	337	c.201G>T	c.(199-201)ctG>ctT	p.L67L		NM_153213.3	NP_694945.2	Q8IW93	ARHGJ_HUMAN	Rho guanine nucleotide exchange factor (GEF) 19	67					regulation of actin cytoskeleton organization	intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(1)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|Colorectal(212;3.48e-07)|COAD - Colon adenocarcinoma(227;2.19e-05)|BRCA - Breast invasive adenocarcinoma(304;9.46e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0117)|READ - Rectum adenocarcinoma(331;0.0649)		CAGGGGTCCCCAGGGACCAGC	0.662													5	21					0.217242	0.218703	1	1	0	A	16535349	C	A	16535349	2	1	81	1	0	0	0	0	0	0	0	1	899	581	21	5		5	ARHGEF19	1	16535349	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	73710	16535349	232715272	163	3779											
ARHGEF19	128272	broad.mit.edu	37	1	16535421	16535421	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:16535421C>A	ENST00000270747.3	-	2	265	c.129G>T	c.(127-129)ccG>ccT	p.P43P		NM_153213.3	NP_694945.2	Q8IW93	ARHGJ_HUMAN	Rho guanine nucleotide exchange factor (GEF) 19	43					regulation of actin cytoskeleton organization	intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(1)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|Colorectal(212;3.48e-07)|COAD - Colon adenocarcinoma(227;2.19e-05)|BRCA - Breast invasive adenocarcinoma(304;9.46e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0117)|READ - Rectum adenocarcinoma(331;0.0649)		ACACTGGGCTCGGGGGCTTCA	0.672													12	14					0.0135373	0.014045	1	1	0	A	16535421	C	A	16535421	2	1	81	1	0	0	0	0	0	0	0	1	899	871	31	5		5	ARHGEF19	1	16535421	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	72	16535421	232715200	164	3780											
ARHGEF19	128272	broad.mit.edu	37	1	16535435	16535435	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:16535435C>T	ENST00000270747.3	-	2	251	c.115G>A	c.(115-117)Gcc>Acc	p.A39T		NM_153213.3	NP_694945.2	Q8IW93	ARHGJ_HUMAN	Rho guanine nucleotide exchange factor (GEF) 19	39					regulation of actin cytoskeleton organization	intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(1)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|Colorectal(212;3.48e-07)|COAD - Colon adenocarcinoma(227;2.19e-05)|BRCA - Breast invasive adenocarcinoma(304;9.46e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0117)|READ - Rectum adenocarcinoma(331;0.0649)		GGCTTCAGGGCGGGCAGCTCT	0.677													5	17					0	0	1	0	0	T	16535435	C	T	16535435	3	4	81	1	0	0	0	0	1	0	0	0	899	768	27	1	2353	1	ARHGEF19	1	16535435	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	14	16535435	232715186	165	3781											
FBXO42	54455	broad.mit.edu	37	1	16641705	16641705	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:16641705G>A	ENST00000375592.3	-	2	425	c.209C>T	c.(208-210)aCt>aTt	p.T70I	FBXO42_ENST00000478089.1_5'UTR	NM_018994.1	NP_061867.1	Q6P3S6	FBX42_HUMAN	F-box protein 42	70	F-box.									autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	26		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00475)|all_lung(284;0.00671)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0193)|Colorectal(212;3.16e-07)|COAD - Colon adenocarcinoma(227;1.46e-05)|BRCA - Breast invasive adenocarcinoma(304;4.37e-05)|Kidney(64;0.000246)|KIRC - Kidney renal clear cell carcinoma(64;0.00336)|STAD - Stomach adenocarcinoma(313;0.0139)|READ - Rectum adenocarcinoma(331;0.0693)		AAGGGCCGCAGTTTTGTGTTC	0.413													36	48					0	0	1	0	0	A	16641705	G	A	16641705	3	1	81	1	0	0	0	0	1	0	0	0	5784	1029	36	2	1980	2	FBXO42	1	16641705	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	106270	16641705	232608916	166	3782											
SPATA21	374955	broad.mit.edu	37	1	16731549	16731549	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:16731549G>A	ENST00000335496.1	-	8	1206	c.724C>T	c.(724-726)Cag>Tag	p.Q242*	SPATA21_ENST00000466212.1_5'UTR|SPATA21_ENST00000540400.1_Nonsense_Mutation_p.Q219*	NM_198546.1	NP_940948.1	Q7Z572	SPT21_HUMAN	spermatogenesis associated 21	242							calcium ion binding			breast(1)|endometrium(2)|lung(8)|ovary(2)|pancreas(3)|stomach(1)|urinary_tract(2)	19		Colorectal(325;0.000147)|Renal(390;0.00145)|Lung NSC(340;0.00215)|Breast(348;0.00224)|all_lung(284;0.00351)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(227;1.15e-05)|BRCA - Breast invasive adenocarcinoma(304;4.2e-05)|Kidney(64;0.000183)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.0122)|READ - Rectum adenocarcinoma(331;0.0651)		TTCAGGCTCTGTGCATCCACC	0.552													5	44					0	0	1	0	0	A	16731549	G	A	16731549	4	1	81	1	0	0	0	0	0	1	0	0	15063	1386	48	2	709	2	SPATA21	1	16731549	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	89844	16731549	232519072	167	3783											
NECAP2	55707	broad.mit.edu	37	1	16770223	16770223	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:16770223G>A	ENST00000337132.5	+	2	279	c.189G>A	c.(187-189)acG>acA	p.T63T	NECAP2_ENST00000504551.2_Intron|NECAP2_ENST00000457722.2_Silent_p.T37T|NECAP2_ENST00000443980.2_Silent_p.T63T|NECAP2_ENST00000406746.1_Silent_p.T63T	NM_001145278.1|NM_018090.4	NP_001138750.1|NP_060560.1	Q9NVZ3	NECP2_HUMAN	NECAP endocytosis associated 2	63					endocytosis|protein transport	clathrin vesicle coat|coated pit|plasma membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9		Colorectal(325;0.000147)|Renal(390;0.00145)|Lung NSC(340;0.00215)|Breast(348;0.00224)|all_lung(284;0.00351)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(227;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|Kidney(64;0.000181)|KIRC - Kidney renal clear cell carcinoma(64;0.00268)|STAD - Stomach adenocarcinoma(196;0.012)|READ - Rectum adenocarcinoma(331;0.0649)		AGGACAGGACGTCAGGTAACC	0.617													5	15					0	0	1	0	0	A	16770223	G	A	16770223	2	1	81	1	0	0	0	0	0	0	0	1	10355	1132	40	1		1	NECAP2	1	16770223	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	38674	16770223	232480398	168	3784											
NECAP2	55707	broad.mit.edu	37	1	16782322	16782322	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:16782322C>A	ENST00000337132.5	+	7	767	c.677C>A	c.(676-678)cCt>cAt	p.P226H	NECAP2_ENST00000457722.2_Missense_Mutation_p.P200H|NECAP2_ENST00000406746.1_Missense_Mutation_p.P226H|NECAP2_ENST00000504551.2_Missense_Mutation_p.P165H|NECAP2_ENST00000443980.2_Intron	NM_001145278.1|NM_018090.4	NP_001138750.1|NP_060560.1	Q9NVZ3	NECP2_HUMAN	NECAP endocytosis associated 2	226					endocytosis|protein transport	clathrin vesicle coat|coated pit|plasma membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9		Colorectal(325;0.000147)|Renal(390;0.00145)|Lung NSC(340;0.00215)|Breast(348;0.00224)|all_lung(284;0.00351)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(227;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|Kidney(64;0.000181)|KIRC - Kidney renal clear cell carcinoma(64;0.00268)|STAD - Stomach adenocarcinoma(196;0.012)|READ - Rectum adenocarcinoma(331;0.0649)		GGAGGTGCTCCTGTACCCTGG	0.542													4	30					0.000602214	0.000646338	1	1	0	A	16782322	C	A	16782322	3	1	81	1	0	0	0	0	1	0	0	0	10355	681	24	4	703	4	NECAP2	1	16782322	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	12099	16782322	232468299	169	3785											
NECAP2	55707	broad.mit.edu	37	1	16782362	16782362	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:16782362C>A	ENST00000337132.5	+	7	807	c.717C>A	c.(715-717)atC>atA	p.I239I	NECAP2_ENST00000457722.2_Silent_p.I213I|NECAP2_ENST00000406746.1_Silent_p.I239I|NECAP2_ENST00000504551.2_Silent_p.I178I|NECAP2_ENST00000443980.2_Intron	NM_001145278.1|NM_018090.4	NP_001138750.1|NP_060560.1	Q9NVZ3	NECP2_HUMAN	NECAP endocytosis associated 2	239					endocytosis|protein transport	clathrin vesicle coat|coated pit|plasma membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9		Colorectal(325;0.000147)|Renal(390;0.00145)|Lung NSC(340;0.00215)|Breast(348;0.00224)|all_lung(284;0.00351)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(227;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|Kidney(64;0.000181)|KIRC - Kidney renal clear cell carcinoma(64;0.00268)|STAD - Stomach adenocarcinoma(196;0.012)|READ - Rectum adenocarcinoma(331;0.0649)		CTGCTGACATCTGGGGAGACT	0.567													4	40					8.12818e-05	8.94031e-05	1	1	0	A	16782362	C	A	16782362	2	1	81	1	0	0	0	0	0	0	0	1	10355	903	32	4		4	NECAP2	1	16782362	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	40	16782362	232468259	170	3786											
NBPF1	55672	broad.mit.edu	37	1	16901153	16901153	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:16901153C>T	ENST00000430580.2	-	21	3114	c.2227G>A	c.(2227-2229)Gag>Aag	p.E743K	NBPF1_ENST00000287968.8_Missense_Mutation_p.E108K|NBPF1_ENST00000432949.1_Missense_Mutation_p.E201K	NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	743	NBPF 3.					cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		AGTGAGTCCTCAGGGACTTCC	0.493													54	376					0	0	1	0	0	T	16901153	C	T	16901153	3	4	81	1	0	0	0	0	1	0	0	0	10240	835	29	2	1233	2	NBPF1	1	16901153	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	118791	16901153	232349468	171	3787											
NBPF1	55672	broad.mit.edu	37	1	16901708	16901708	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:16901708G>A	ENST00000430580.2	-	20	3023	c.2136C>T	c.(2134-2136)gaC>gaT	p.D712D	NBPF1_ENST00000287968.8_Silent_p.D77D|NBPF1_ENST00000432949.1_Silent_p.D170D	NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	712	NBPF 3.		H -> D (in dbSNP:rs3901680).			cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		CATCTTCATCGTCATCGTTGT	0.433													27	437					0	0	1	0	0	A	16901708	G	A	16901708	2	1	81	1	0	0	0	0	0	0	0	1	10240	1136	40	1		1	NBPF1	1	16901708	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	555	16901708	232348913	172	3788											
NBPF1	55672	broad.mit.edu	37	1	16921465	16921465	+	Translation_Start_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:16921465G>A	ENST00000430580.2	-	0	461					NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1							cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		AGTACGATTCGTTTTCTTGTA	0.363													3	33					0	0	1	0	0	A	16921465	G	A	16921465	1	1	81	1	0	0	0	0	0	0	0	0	10240	1160	40	1		1	NBPF1	1	16921465	Translation_Start_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	19757	16921465	232329156	173	3789											
CROCC	9696	broad.mit.edu	37	1	17266488	17266488	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:17266488C>A	ENST00000375541.5	+	13	1777	c.1708C>A	c.(1708-1710)Ctg>Atg	p.L570M	CROCC_ENST00000467938.1_3'UTR	NM_014675.3	NP_055490.3	Q5TZA2	CROCC_HUMAN	ciliary rootlet coiled-coil, rootletin	570					cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity			breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		AGAGGAACAGCTGCAGCGCCT	0.697													4	29					0.184627	0.18622	1	1	0	A	17266488	C	A	17266488	3	1	81	1	0	0	0	0	1	0	0	0	3916	796	28	4	1758	4	CROCC	1	17266488	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	345023	17266488	231984133	174	3790											
CROCC	9696	broad.mit.edu	37	1	17292335	17292335	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:17292335G>A	ENST00000375541.5	+	28	4592	c.4523G>A	c.(4522-4524)cGc>cAc	p.R1508H		NM_014675.3	NP_055490.3	Q5TZA2	CROCC_HUMAN	ciliary rootlet coiled-coil, rootletin	1508					cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity			breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		GAGGCAGTGCGCGGGGCCCTC	0.667													5	42					0	0	1	0	0	A	17292335	G	A	17292335	3	1	81	1	0	0	0	0	1	0	0	0	3916	1087	38	1	4633	1	CROCC	1	17292335	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	25847	17292335	231958286	175	3791											
MFAP2	4237	broad.mit.edu	37	1	17303034	17303034	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:17303034C>T	ENST00000375535.3	-	6	537	c.248G>A	c.(247-249)gGa>gAa	p.G83E	MFAP2_ENST00000490075.1_5'UTR|MFAP2_ENST00000438542.1_Missense_Mutation_p.G82E|MFAP2_ENST00000375534.3_Missense_Mutation_p.G82E			P55001	MFAP2_HUMAN	microfibrillar-associated protein 2	83						microfibril				kidney(1)|lung(1)	2		Colorectal(325;3.46e-05)|Breast(348;0.000118)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000538)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|COAD - Colon adenocarcinoma(227;1.07e-05)|BRCA - Breast invasive adenocarcinoma(304;3.04e-05)|Kidney(64;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00544)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		CTCTGCATTTCCTGGTTCTGG	0.607													19	37					0	0	1	0	0	T	17303034	C	T	17303034	3	4	81	1	0	0	0	0	1	0	0	0	9564	855	30	2	319	2	MFAP2	1	17303034	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	10699	17303034	231947587	176	3792											
MFAP2	4237	broad.mit.edu	37	1	17303391	17303391	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:17303391C>A	ENST00000375535.3	-	4	444		c.e4+1		MFAP2_ENST00000490075.1_5'UTR|MFAP2_ENST00000438542.1_Splice_Site|MFAP2_ENST00000375534.3_Splice_Site			P55001	MFAP2_HUMAN	microfibrillar-associated protein 2							microfibril				kidney(1)|lung(1)	2		Colorectal(325;3.46e-05)|Breast(348;0.000118)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000538)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|COAD - Colon adenocarcinoma(227;1.07e-05)|BRCA - Breast invasive adenocarcinoma(304;3.04e-05)|Kidney(64;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00544)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		TAGCCCGTTACCTTGATAATC	0.582													58	116					6.70656e-16	8.58151e-16	1	1	0	A	17303391	C	A	17303391	5	1	81	1	0	0	0	0	0	0	1	0	9564	521	18	5	420	5	MFAP2	1	17303391	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	357	17303391	231947230	177	3793											
ATP13A2	23400	broad.mit.edu	37	1	17313646	17313646	+	Missense_Mutation	SNP	G	G	A	rs146559160		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:17313646G>A	ENST00000452699.1	-	26	3152	c.2963C>T	c.(2962-2964)cCg>cTg	p.P988L	ATP13A2_ENST00000341676.5_Missense_Mutation_p.P949L|ATP13A2_ENST00000326735.8_Missense_Mutation_p.P993L|RP1-37C10.3_ENST00000446261.1_RNA	NM_001141973.1|NM_022089.2	NP_001135445.1|NP_071372.1	Q9NQ11	AT132_HUMAN	ATPase type 13A2	993					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)		CAGCGCCCCCGGTGGCCGCAC	0.692													11	13					0	0	1	0	0	A	17313646	G	A	17313646	3	1	81	1	0	0	0	0	1	0	0	0	1123	1116	39	1	816	1	ATP13A2	1	17313646	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	10255	17313646	231936975	178	3794											
ATP13A2	23400	broad.mit.edu	37	1	17322537	17322537	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:17322537G>A	ENST00000452699.1	-	15	1650	c.1461C>T	c.(1459-1461)ggC>ggT	p.G487G	ATP13A2_ENST00000341676.5_Silent_p.G487G|ATP13A2_ENST00000502860.1_5'UTR|ATP13A2_ENST00000326735.8_Silent_p.G492G|RP1-37C10.3_ENST00000446261.1_RNA	NM_001141973.1|NM_022089.2	NP_001135445.1|NP_071372.1	Q9NQ11	AT132_HUMAN	ATPase type 13A2	492					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)		TGCAGAAAATGCCCTGTCTCC	0.657													5	74					0	0	1	0	0	A	17322537	G	A	17322537	2	1	81	1	0	0	0	0	0	0	0	1	1123	1306	46	2		2	ATP13A2	1	17322537	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	8891	17322537	231928084	179	3795											
PADI2	11240	broad.mit.edu	37	1	17413088	17413088	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:17413088G>A	ENST00000444885.2	-	5	599	c.518C>T	c.(517-519)gCc>gTc	p.A173V	PADI2_ENST00000375481.1_Silent_p.G254G|PADI2_ENST00000375486.4_Silent_p.G254G			Q9Y2J8	PADI2_HUMAN	peptidyl arginine deiminase, type II	0					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(12)|ovary(4)|pancreas(1)|skin(5)|urinary_tract(3)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000422)|Renal(390;0.000518)|all_lung(284;0.000546)|Ovarian(437;0.00671)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;1.49e-05)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)	L-Citrulline(DB00155)	GGAAACAGAGGCCTTCCACGA	0.622													30	41					0	0	1	0	0	A	17413088	G	A	17413088	3	1	81	1	0	0	0	0	1	0	0	0	11425	1190	42	2	1275	2	PADI2	1	17413088	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	90551	17413088	231837533	180	3796											
PADI1	29943	broad.mit.edu	37	1	17552316	17552316	+	Missense_Mutation	SNP	G	G	A	rs144288276		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:17552316G>A	ENST00000375471.4	+	5	511	c.419G>A	c.(418-420)cGc>cAc	p.R140H		NM_013358.2	NP_037490.2	Q9ULC6	PADI1_HUMAN	peptidyl arginine deiminase, type I	140					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	28		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00522)|BRCA - Breast invasive adenocarcinoma(304;1.3e-05)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(196;0.0069)|READ - Rectum adenocarcinoma(331;0.0681)|Lung(427;0.197)	L-Citrulline(DB00155)	AAAACCTGGCGCTGGGGCCCT	0.587													43	50					0	0	1	0	0	A	17552316	G	A	17552316	3	1	81	1	0	0	0	0	1	0	0	0	11424	1087	38	1	437	1	PADI1	1	17552316	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	139228	17552316	231698305	181	3797											
PADI3	51702	broad.mit.edu	37	1	17575639	17575639	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:17575639C>A	ENST00000375460.3	+	1	47	c.7C>A	c.(7-9)Ctg>Atg	p.L3M		NM_016233.2	NP_057317.2	Q9ULW8	PADI3_HUMAN	peptidyl arginine deiminase, type III	3					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	CAGCATGTCGCTGCAGAGAAT	0.612													10	57					0.0581538	0.0592525	1	1	0	A	17575639	C	A	17575639	3	1	81	1	0	0	0	0	1	0	0	0	11426	796	28	4	9	4	PADI3	1	17575639	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	23323	17575639	231674982	182	3798											
PADI3	51702	broad.mit.edu	37	1	17593293	17593293	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:17593293T>C	ENST00000375460.3	+	5	528	c.488T>C	c.(487-489)gTc>gCc	p.V163A		NM_016233.2	NP_057317.2	Q9ULW8	PADI3_HUMAN	peptidyl arginine deiminase, type III	163					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	AGCTGTGATGTCCAGGACAAT	0.602													43	49					0	0	1	0	0	C	17593293	T	C	17593293	3	2	81	1	0	0	0	0	1	0	0	0	11426	1667	58	3	506	3	PADI3	1	17593293	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	17654	17593293	231657328	183	3799											
ARHGEF10L	55160	broad.mit.edu	37	1	17934328	17934328	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:17934328G>A	ENST00000361221.3	+	7	624	c.465G>A	c.(463-465)gcG>gcA	p.A155A	ARHGEF10L_ENST00000452522.1_Silent_p.A155A|ARHGEF10L_ENST00000434513.1_Silent_p.A155A|ARHGEF10L_ENST00000375415.1_Silent_p.A155A|ARHGEF10L_ENST00000375420.3_5'UTR	NM_018125.3	NP_060595	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10-like	155					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		ACGAGGATGCGCACCGGGCTG	0.687													6	10					0	0	1	0	0	A	17934328	G	A	17934328	2	1	81	1	0	0	0	0	0	0	0	1	892	1074	38	1		1	ARHGEF10L	1	17934328	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	341035	17934328	231316293	184	3800											
ARHGEF10L	55160	broad.mit.edu	37	1	17942691	17942691	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:17942691G>A	ENST00000361221.3	+	9	988	c.829G>A	c.(829-831)Gtc>Atc	p.V277I	ARHGEF10L_ENST00000469726.1_3'UTR|ARHGEF10L_ENST00000452522.1_Missense_Mutation_p.V238I|ARHGEF10L_ENST00000434513.1_Missense_Mutation_p.V277I|ARHGEF10L_ENST00000375415.1_Missense_Mutation_p.V238I|ARHGEF10L_ENST00000375420.3_Missense_Mutation_p.V35I	NM_018125.3	NP_060595	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10-like	277					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		CAGGAAGGACGTCCTCGGTGA	0.637													6	53					0	0	1	0	0	A	17942691	G	A	17942691	3	1	81	1	0	0	0	0	1	0	0	0	892	1145	40	1	859	1	ARHGEF10L	1	17942691	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	8363	17942691	231307930	185	3801											
ARHGEF10L	55160	broad.mit.edu	37	1	17949529	17949529	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:17949529G>A	ENST00000361221.3	+	12	1218	c.1059G>A	c.(1057-1059)gcG>gcA	p.A353A	ARHGEF10L_ENST00000469726.1_3'UTR|ARHGEF10L_ENST00000167825.4_Silent_p.A131A|ARHGEF10L_ENST00000452522.1_Silent_p.A314A|ARHGEF10L_ENST00000434513.1_Silent_p.A353A|ARHGEF10L_ENST00000375408.3_Silent_p.A131A|ARHGEF10L_ENST00000375415.1_Silent_p.A314A|ARHGEF10L_ENST00000375420.3_Silent_p.A111A	NM_018125.3	NP_060595	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10-like	353	DH.				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		AGCCCAAGGCGCTGAGCGCCC	0.677													14	25					0	0	1	0	0	A	17949529	G	A	17949529	2	1	81	1	0	0	0	0	0	0	0	1	892	1074	38	1		1	ARHGEF10L	1	17949529	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	6838	17949529	231301092	186	3802											
ARHGEF10L	55160	broad.mit.edu	37	1	17961055	17961055	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:17961055C>T	ENST00000361221.3	+	17	1902	c.1743C>T	c.(1741-1743)caC>caT	p.H581H	ARHGEF10L_ENST00000469726.1_Intron|ARHGEF10L_ENST00000167825.4_Intron|ARHGEF10L_ENST00000452522.1_Silent_p.H542H|ARHGEF10L_ENST00000434513.1_Intron|ARHGEF10L_ENST00000375408.3_Intron|ARHGEF10L_ENST00000375415.1_Silent_p.H542H|ARHGEF10L_ENST00000375420.3_Silent_p.H339H	NM_018125.3	NP_060595	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10-like	581					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		CTGCCAACCACAGGTACGTGG	0.617													31	61					0	0	1	0	0	T	17961055	C	T	17961055	2	4	81	1	0	0	0	0	0	0	0	1	892	477	17	2		2	ARHGEF10L	1	17961055	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	11526	17961055	231289566	187	3803											
ARHGEF10L	55160	broad.mit.edu	37	1	17983182	17983182	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:17983182G>A	ENST00000361221.3	+	25	2998	c.2839G>A	c.(2839-2841)Gct>Act	p.A947T	ARHGEF10L_ENST00000469726.1_3'UTR|ARHGEF10L_ENST00000167825.4_Missense_Mutation_p.A650T|ARHGEF10L_ENST00000452522.1_Missense_Mutation_p.A908T|ARHGEF10L_ENST00000434513.1_Missense_Mutation_p.A942T|ARHGEF10L_ENST00000375408.3_Missense_Mutation_p.A720T|ARHGEF10L_ENST00000375415.1_Missense_Mutation_p.A908T	NM_018125.3	NP_060595	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10-like	947					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		TGGGACCCTTGCTGCTTACCC	0.647													4	44					0	0	1	0	0	A	17983182	G	A	17983182	3	1	81	1	0	0	0	0	1	0	0	0	892	1319	46	2	2933	2	ARHGEF10L	1	17983182	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	22127	17983182	231267439	188	3804											
ARHGEF10L	55160	broad.mit.edu	37	1	18021739	18021739	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:18021739C>T	ENST00000361221.3	+	28	3430	c.3271C>T	c.(3271-3273)Ccc>Tcc	p.P1091S	ARHGEF10L_ENST00000469726.1_3'UTR|ARHGEF10L_ENST00000167825.4_Missense_Mutation_p.P794S|ARHGEF10L_ENST00000452522.1_Missense_Mutation_p.P1052S|ARHGEF10L_ENST00000375408.3_Missense_Mutation_p.P864S|ARHGEF10L_ENST00000375415.1_Missense_Mutation_p.P1052S	NM_018125.3	NP_060595	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10-like	1091					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		CGTCCTGCTGCCCGTGCCTCG	0.627													17	31					0	0	1	0	0	T	18021739	C	T	18021739	3	4	81	1	0	0	0	0	1	0	0	0	892	739	26	2	3377	2	ARHGEF10L	1	18021739	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	38557	18021739	231228882	189	3805											
ARHGEF10L	55160	broad.mit.edu	37	1	18023646	18023646	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:18023646G>A	ENST00000361221.3	+	29	3770	c.3611G>A	c.(3610-3612)aGc>aAc	p.S1204N	ARHGEF10L_ENST00000469726.1_3'UTR|ARHGEF10L_ENST00000167825.4_Missense_Mutation_p.S907N|ARHGEF10L_ENST00000452522.1_Missense_Mutation_p.S1165N|ARHGEF10L_ENST00000375408.3_Missense_Mutation_p.S977N|ARHGEF10L_ENST00000375415.1_Missense_Mutation_p.S1165N	NM_018125.3	NP_060595	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10-like	1204					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		TTGGAGCACAGCGAGGAGGAC	0.687													13	9					0	0	1	0	0	A	18023646	G	A	18023646	3	1	81	1	0	0	0	0	1	0	0	0	892	971	34	2	3721	2	ARHGEF10L	1	18023646	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1907	18023646	231226975	190	3806											
ACTL8	81569	broad.mit.edu	37	1	18149677	18149677	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:18149677C>T	ENST00000375406.1	+	2	390	c.174C>T	c.(172-174)tgC>tgT	p.C58C		NM_030812.2	NP_110439.2	Q9H568	ACTL8_HUMAN	actin-like 8	58						cytoplasm|cytoskeleton				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	28		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00186)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;6.43e-06)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.00652)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)		TCGACATTTGCCATCCTGACA	0.582													26	57					0	0	1	0	0	T	18149677	C	T	18149677	2	4	81	1	0	0	0	0	0	0	0	1	202	747	26	2		2	ACTL8	1	18149677	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	126031	18149677	231100944	191	3807											
IGSF21	84966	broad.mit.edu	37	1	18692015	18692015	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:18692015G>A	ENST00000251296.1	+	6	1222	c.839G>A	c.(838-840)aGc>aAc	p.S280N		NM_032880.4	NP_116269.3	Q96ID5	IGS21_HUMAN	immunoglobin superfamily, member 21	280						extracellular region				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	40		Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157)		TGGGTCCACAGCGCCGAGCCC	0.637													36	60					0	0	1	0	0	A	18692015	G	A	18692015	3	1	81	1	0	0	0	0	1	0	0	0	7643	971	34	2	861	2	IGSF21	1	18692015	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	542338	18692015	230558606	192	3808											
KLHDC7A	127707	broad.mit.edu	37	1	18809726	18809726	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:18809726C>T	ENST00000400664.1	+	1	2303	c.2251C>T	c.(2251-2253)Cgg>Tgg	p.R751W		NM_152375.2	NP_689588.2	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A	751						integral to membrane				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		CAAGGAGCTGCGGAGTTTCCC	0.647													29	45					0	0	1	0	0	T	18809726	C	T	18809726	3	4	81	1	0	0	0	0	1	0	0	0	8403	759	27	1	2253	1	KLHDC7A	1	18809726	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	117711	18809726	230440895	193	3809											
PAX7	5081	broad.mit.edu	37	1	19029660	19029660	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:19029660C>T	ENST00000420770.2	+	7	1108	c.1025C>T	c.(1024-1026)gCg>gTg	p.A342V	PAX7_ENST00000375375.3_Missense_Mutation_p.A342V|PAX7_ENST00000400661.3_Missense_Mutation_p.A340V	NM_001135254.1	NP_001128726.1	P23759	PAX7_HUMAN	paired box 7	342	Poly-Ala.				anti-apoptosis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		PAX7/FOXO1(197)	breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)	31		Colorectal(325;3.46e-05)|all_lung(284;0.000439)|Renal(390;0.000518)|Lung NSC(340;0.000543)|Breast(348;0.00093)|Ovarian(437;0.00768)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00609)|BRCA - Breast invasive adenocarcinoma(304;4.71e-05)|Kidney(64;0.000279)|KIRC - Kidney renal clear cell carcinoma(64;0.00371)|STAD - Stomach adenocarcinoma(196;0.00658)|READ - Rectum adenocarcinoma(331;0.0576)		CTGGCTGCAGCGGCTGCAGCC	0.657			T	FOXO1A	alveolar rhabdomyosarcoma								9	13					0	0	1	0	0	T	19029660	C	T	19029660	3	4	81	1	0	0	0	0	1	0	0	0	11531	768	27	1	1051	1	PAX7	1	19029660	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	219934	19029660	230220961	194	3810											
TAS1R2	80834	broad.mit.edu	37	1	19166109	19166109	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:19166109G>A	ENST00000375371.3	-	6	2525	c.2504C>T	c.(2503-2505)aCc>aTc	p.T835I		NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2	835					detection of chemical stimulus involved in sensory perception of sweet taste	plasma membrane	protein heterodimerization activity|taste receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	CCTCCTCATGGTGTAGCCCTG	0.622													6	13					0	0	1	0	0	A	19166109	G	A	19166109	3	1	81	1	0	0	0	0	1	0	0	0	15620	1261	44	2	19	2	TAS1R2	1	19166109	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	136449	19166109	230084512	195	3811											
ALDH4A1	8659	broad.mit.edu	37	1	19202874	19202874	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:19202874C>T	ENST00000375341.3	-	12	1530	c.1273G>A	c.(1273-1275)Gtg>Atg	p.V425M	RP13-279N23.2_ENST00000494072.3_3'UTR|ALDH4A1_ENST00000538309.1_Missense_Mutation_p.V365M|ALDH4A1_ENST00000290597.5_Missense_Mutation_p.V425M|ALDH4A1_ENST00000538839.1_Intron	NM_003748.3	NP_003739.2	P30038	AL4A1_HUMAN	aldehyde dehydrogenase 4 family, member A1	425					proline biosynthetic process|proline catabolic process	mitochondrial matrix	1-pyrroline-5-carboxylate dehydrogenase activity|aldehyde dehydrogenase (NAD) activity|electron carrier activity			cervix(2)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)	15		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00479)|BRCA - Breast invasive adenocarcinoma(304;3.67e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	NADH(DB00157)	AAGTAGCCCACGGAGTCATCA	0.637													21	21					0	0	1	0	0	T	19202874	C	T	19202874	3	4	81	1	0	0	0	0	1	0	0	0	498	536	19	1	434	1	ALDH4A1	1	19202874	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	36765	19202874	230047747	196	3812											
UBR4	23352	broad.mit.edu	37	1	19403375	19403375	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:19403375C>A	ENST00000375267.2	-	106	15412	c.15409G>T	c.(15409-15411)Gag>Tag	p.E5137*	UBR4_ENST00000375254.3_Nonsense_Mutation_p.E5116*|UBR4_ENST00000375226.2_Nonsense_Mutation_p.E5092*|UBR4_ENST00000375224.1_Nonsense_Mutation_p.E823*|UBR4_ENST00000543981.1_Nonsense_Mutation_p.E780*|UBR4_ENST00000429347.2_Nonsense_Mutation_p.E639*|UBR4_ENST00000375217.2_Nonsense_Mutation_p.E5109*|UBR4_ENST00000375225.3_Nonsense_Mutation_p.E191*			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	5116					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		CAGCCTCCCTCTGTGTTACTG	0.542													8	76					0.00307968	0.00324365	1	1	0	A	19403375	C	A	19403375	4	1	81	1	0	0	0	0	0	1	0	0	16965	922	32	4	213	4	UBR4	1	19403375	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	200501	19403375	229847246	197	3813											
UBR4	23352	broad.mit.edu	37	1	19415397	19415397	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:19415397G>T	ENST00000375267.2	-	98	14289	c.14286C>A	c.(14284-14286)acC>acA	p.T4762T	UBR4_ENST00000375254.3_Silent_p.T4762T|UBR4_ENST00000375226.2_Silent_p.T4738T|UBR4_ENST00000375224.1_Silent_p.T469T|UBR4_ENST00000543981.1_Silent_p.T426T|UBR4_ENST00000429347.2_Silent_p.T285T|UBR4_ENST00000375217.2_Silent_p.T4755T			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	4762					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		TCTCTGCCAAGGTCCCAATGC	0.567													5	63					0.014758	0.0152304	1	1	0	T	19415397	G	T	19415397	2	4	81	1	0	0	0	0	0	0	0	1	16965	987	35	4		4	UBR4	1	19415397	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	12022	19415397	229835224	198	3814											
UBR4	23352	broad.mit.edu	37	1	19441364	19441364	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:19441364G>T	ENST00000375267.2	-	75	11146	c.11143C>A	c.(11143-11145)Ctc>Atc	p.L3715I	UBR4_ENST00000375254.3_Missense_Mutation_p.L3715I|UBR4_ENST00000375226.2_Missense_Mutation_p.L3691I|UBR4_ENST00000375217.2_Missense_Mutation_p.L3708I|UBR4_ENST00000375218.3_Missense_Mutation_p.L130I			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	3715					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		TTGGCATAGAGCATGAAGTCG	0.507													6	142					3.59834e-05	3.99423e-05	1	1	0	T	19441364	G	T	19441364	3	4	81	1	0	0	0	0	1	0	0	0	16965	971	34	4	4536	4	UBR4	1	19441364	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	25967	19441364	229809257	199	3815											
UBR4	23352	broad.mit.edu	37	1	19443764	19443764	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:19443764G>T	ENST00000375267.2	-	73	10777	c.10774C>A	c.(10774-10776)Ctg>Atg	p.L3592M	UBR4_ENST00000375254.3_Missense_Mutation_p.L3592M|UBR4_ENST00000375226.2_Missense_Mutation_p.L3568M|UBR4_ENST00000375217.2_Missense_Mutation_p.L3585M|UBR4_ENST00000375218.3_Missense_Mutation_p.L7M			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	3592					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		TTATAATACAGGTTGATGGTC	0.517													38	84					3.38236e-24	4.4635e-24	1	1	0	T	19443764	G	T	19443764	3	4	81	1	0	0	0	0	1	0	0	0	16965	991	35	4	4913	4	UBR4	1	19443764	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2400	19443764	229806857	200	3816											
UBR4	23352	broad.mit.edu	37	1	19446192	19446192	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:19446192A>C	ENST00000375267.2	-	70	10317	c.10314T>G	c.(10312-10314)aaT>aaG	p.N3438K	UBR4_ENST00000375254.3_Missense_Mutation_p.N3438K|UBR4_ENST00000375226.2_Missense_Mutation_p.N3414K|UBR4_ENST00000375217.2_Missense_Mutation_p.N3431K			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	3438					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		ATTTGCTGGAATTTCTGTGGA	0.488													20	31					0	0	1	0	0	C	19446192	A	C	19446192	3	2	81	1	0	0	0	0	1	0	0	0	16965	98	4	4	5385	4	UBR4	1	19446192	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	2428	19446192	229804429	201	3817											
UBR4	23352	broad.mit.edu	37	1	19464554	19464554	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:19464554G>A	ENST00000375267.2	-	60	8856	c.8853C>T	c.(8851-8853)ggC>ggT	p.G2951G	UBR4_ENST00000375254.3_Silent_p.G2951G|UBR4_ENST00000375226.2_Silent_p.G2927G|UBR4_ENST00000375217.2_Silent_p.G2944G			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	2951					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		ctccctcGGAGCCATCTCCCT	0.557													15	22					0	0	1	0	0	A	19464554	G	A	19464554	2	1	81	1	0	0	0	0	0	0	0	1	16965	958	34	2		2	UBR4	1	19464554	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	18362	19464554	229786067	202	3818											
UBR4	23352	broad.mit.edu	37	1	19493516	19493516	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:19493516C>A	ENST00000375267.2	-	29	4112	c.4109G>T	c.(4108-4110)aGt>aTt	p.S1370I	UBR4_ENST00000375254.3_Splice_Site_p.S1370I|UBR4_ENST00000375226.2_Splice_Site_p.S1370I|UBR4_ENST00000375217.2_Splice_Site_p.S1370I			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	1370					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		TCAGGCTCACCTGTTAGGATC	0.443													10	61					0.00621372	0.00649472	1	1	0	A	19493516	C	A	19493516	5	1	81	1	0	0	0	0	0	0	1	0	16965	695	24	4	11754	4	UBR4	1	19493516	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	28962	19493516	229757105	203	3819											
UBR4	23352	broad.mit.edu	37	1	19503154	19503154	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:19503154C>T	ENST00000375267.2	-	20	2708	c.2705G>A	c.(2704-2706)cGg>cAg	p.R902Q	UBR4_ENST00000375254.3_Missense_Mutation_p.R902Q|UBR4_ENST00000375226.2_Missense_Mutation_p.R902Q|UBR4_ENST00000375217.2_Missense_Mutation_p.R902Q			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	902					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		AGTGGTTGCCCGGCGGCTGTT	0.428													10	46					0	0	1	0	0	T	19503154	C	T	19503154	3	4	81	1	0	0	0	0	1	0	0	0	16965	652	23	1	13194	1	UBR4	1	19503154	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	9638	19503154	229747467	204	3820											
AKR7A3	22977	broad.mit.edu	37	1	19609371	19609371	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:19609371C>T	ENST00000361640.4	-	7	1390	c.850G>A	c.(850-852)Gcg>Acg	p.A284T		NM_012067.2	NP_036199.2	O95154	ARK73_HUMAN	aldo-keto reductase family 7, member A3 (aflatoxin aldehyde reductase)	284					cellular aldehyde metabolic process	cytosol	aldo-keto reductase (NADP) activity|electron carrier activity			NS(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|ovary(1)|stomach(2)	13		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;1.78e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|GBM - Glioblastoma multiforme(114;0.00276)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		AGGATGACCGCGTCCCCGTGG	0.642													17	16					0	0	1	0	0	T	19609371	C	T	19609371	3	4	81	1	0	0	0	0	1	0	0	0	473	768	27	1	149	1	AKR7A3	1	19609371	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	106217	19609371	229641250	205	3821											
AKR7A2	8574	broad.mit.edu	37	1	19635124	19635124	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:19635124G>A	ENST00000235835.3	-	2	332	c.311C>T	c.(310-312)aCc>aTc	p.T104I		NM_003689.3	NP_003680.2	O43488	ARK72_HUMAN	aldo-keto reductase family 7, member A2 (aflatoxin aldehyde reductase)	104					carbohydrate metabolic process|cellular aldehyde metabolic process	Golgi apparatus	alditol:NADP+ 1-oxidoreductase activity|electron carrier activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00461)|BRCA - Breast invasive adenocarcinoma(304;1.83e-05)|Kidney(64;0.000167)|GBM - Glioblastoma multiforme(114;0.00115)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GTTGGCCTTGGTGGCAATTTT	0.478													23	31					0	0	1	0	0	A	19635124	G	A	19635124	3	1	81	1	0	0	0	0	1	0	0	0	472	1261	44	2	792	2	AKR7A2	1	19635124	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	25753	19635124	229615497	206	3822											
CAPZB	832	broad.mit.edu	37	1	19712004	19712004	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:19712004G>A	ENST00000264203.3	-	4	781	c.288C>T	c.(286-288)tcC>tcT	p.S96S	CAPZB_ENST00000482808.1_5'UTR|CAPZB_ENST00000375144.1_Silent_p.S58S|CAPZB_ENST00000375142.1_Silent_p.S70S|CAPZB_ENST00000401084.2_Silent_p.S70S|CAPZB_ENST00000433834.1_Silent_p.S99S|CAPZB_ENST00000264202.6_Silent_p.S70S	NM_001206541.2	NP_001193470.1	P47756	CAPZB_HUMAN	capping protein (actin filament) muscle Z-line, beta	70					actin cytoskeleton organization|actin filament capping|blood coagulation|cellular component movement	cytosol|F-actin capping protein complex|WASH complex	actin binding			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	7		Colorectal(325;3.93e-05)|Renal(390;0.000147)|all_lung(284;0.000169)|Lung NSC(340;0.000202)|Breast(348;0.000496)|Ovarian(437;0.00428)|Myeloproliferative disorder(586;0.0262)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Kidney(64;8.63e-06)|BRCA - Breast invasive adenocarcinoma(304;4.06e-05)|KIRC - Kidney renal clear cell carcinoma(64;0.000175)|GBM - Glioblastoma multiforme(114;0.000525)|STAD - Stomach adenocarcinoma(196;0.00779)|READ - Rectum adenocarcinoma(331;0.103)|Lung(427;0.173)		CTCACCTATAGGAGTCCCCAT	0.567													18	30					0	0	1	0	0	A	19712004	G	A	19712004	2	1	81	1	0	0	0	0	0	0	0	1	2661	987	35	2		2	CAPZB	1	19712004	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	76880	19712004	229538617	207	3823											
TMCO4	255104	broad.mit.edu	37	1	20097881	20097881	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:20097881C>A	ENST00000294543.6	-	5	515	c.274G>T	c.(274-276)Gga>Tga	p.G92*	TMCO4_ENST00000375122.2_Nonsense_Mutation_p.G92*|TMCO4_ENST00000375127.1_Nonsense_Mutation_p.G92*	NM_181719.4	NP_859070.3	Q5TGY1	TMCO4_HUMAN	transmembrane and coiled-coil domains 4	92						integral to membrane				biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00708)|COAD - Colon adenocarcinoma(152;2.28e-05)|BRCA - Breast invasive adenocarcinoma(304;5.8e-05)|Kidney(64;0.000367)|GBM - Glioblastoma multiforme(114;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00459)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0862)|Lung(427;0.223)		CCTTCACCTCCCAGGCCGCTC	0.537													17	31					0.000422831	0.00045788	1	1	0	A	20097881	C	A	20097881	4	1	81	1	0	0	0	0	0	1	0	0	16058	632	22	5	1678	5	TMCO4	1	20097881	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	385877	20097881	229152740	208	3824											
OTUD3	23252	broad.mit.edu	37	1	20224082	20224082	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:20224082G>A	ENST00000375120.3	+	4	534	c.533G>A	c.(532-534)cGg>cAg	p.R178Q	OTUD3_ENST00000466697.1_3'UTR	NM_015207.1	NP_056022.1	Q5T2D3	OTUD3_HUMAN	OTU domain containing 3	178	OTU.									breast(1)|kidney(2)|large_intestine(4)|lung(1)|skin(1)	9		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000276)|Lung NSC(340;0.000338)|Breast(348;0.000812)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.12e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000142)|Kidney(64;0.000177)|GBM - Glioblastoma multiforme(114;0.000408)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		ATCGCATATCGGTATGGAGAG	0.507													16	31					0	0	1	0	0	A	20224082	G	A	20224082	3	1	81	1	0	0	0	0	1	0	0	0	11360	1116	39	1	547	1	OTUD3	1	20224082	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	126201	20224082	229026539	209	3825											
OTUD3	23252	broad.mit.edu	37	1	20231450	20231450	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:20231450G>A	ENST00000375120.3	+	6	806	c.805G>A	c.(805-807)Gtg>Atg	p.V269M		NM_015207.1	NP_056022.1	Q5T2D3	OTUD3_HUMAN	OTU domain containing 3	269										breast(1)|kidney(2)|large_intestine(4)|lung(1)|skin(1)	9		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000276)|Lung NSC(340;0.000338)|Breast(348;0.000812)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.12e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000142)|Kidney(64;0.000177)|GBM - Glioblastoma multiforme(114;0.000408)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		AATAATTGCCGTGCTTCGGAT	0.299													23	55					0	0	1	0	0	A	20231450	G	A	20231450	3	1	81	1	0	0	0	0	1	0	0	0	11360	1145	40	1	827	1	OTUD3	1	20231450	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	7368	20231450	229019171	210	3826											
OTUD3	23252	broad.mit.edu	37	1	20234222	20234222	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:20234222G>A	ENST00000375120.3	+	8	1181	c.1180G>A	c.(1180-1182)Gcc>Acc	p.A394T		NM_015207.1	NP_056022.1	Q5T2D3	OTUD3_HUMAN	OTU domain containing 3	394										breast(1)|kidney(2)|large_intestine(4)|lung(1)|skin(1)	9		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000276)|Lung NSC(340;0.000338)|Breast(348;0.000812)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.12e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000142)|Kidney(64;0.000177)|GBM - Glioblastoma multiforme(114;0.000408)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GAAGACCTTCGCCGCTCTCAA	0.542													15	17					0	0	1	0	0	A	20234222	G	A	20234222	3	1	81	1	0	0	0	0	1	0	0	0	11360	1087	38	1	1210	1	OTUD3	1	20234222	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2772	20234222	229016399	211	3827											
PLA2G5	5322	broad.mit.edu	37	1	20412576	20412576	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:20412576G>A	ENST00000375108.3	+	3	309	c.41G>A	c.(40-42)aGt>aAt	p.S14N	PLA2G5_ENST00000486277.1_3'UTR	NM_000929.2	NP_000920.1	P39877	PA2G5_HUMAN	phospholipase A2, group V	14					lipid catabolic process	extracellular region	calcium ion binding|calcium-dependent phospholipase A2 activity			NS(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000249)|Lung NSC(340;0.000287)|Breast(348;0.000812)|Ovarian(437;0.00328)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.22e-05)|BRCA - Breast invasive adenocarcinoma(304;8.15e-05)|Kidney(64;0.000184)|GBM - Glioblastoma multiforme(114;0.00089)|KIRC - Kidney renal clear cell carcinoma(64;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0652)		TATCTTCCAGGTGTGCCTGCT	0.572													7	18					0	0	1	0	0	A	20412576	G	A	20412576	5	1	81	1	0	0	0	0	0	0	1	0	12055	1275	44	2	47	2	PLA2G5	1	20412576	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	178354	20412576	228838045	212	3828											
UBXN10	127733	broad.mit.edu	37	1	20517755	20517755	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:20517755C>T	ENST00000375099.3	+	2	785	c.701C>T	c.(700-702)aCc>aTc	p.T234I		NM_152376.3	NP_689589.1	Q96LJ8	UBX10_HUMAN	UBX domain protein 10	234	UBX.									endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(2)|skin(2)	14						AAAAACAAAACCTCCTACCGA	0.488													22	36					0	0	1	0	0	T	20517755	C	T	20517755	3	4	81	1	0	0	0	0	1	0	0	0	16972	507	18	2	703	2	UBXN10	1	20517755	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	105179	20517755	228732866	213	3829											
PINK1	65018	broad.mit.edu	37	1	20964524	20964524	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:20964524G>T	ENST00000321556.4	+	2	671	c.577G>T	c.(577-579)Ggg>Tgg	p.G193W		NM_032409.2	NP_115785.1	Q9BXM7	PINK1_HUMAN	PTEN induced putative kinase 1	193	Protein kinase.				cell death|intracellular protein kinase cascade|mitochondrion degradation|peptidyl-serine phosphorylation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of release of cytochrome c from mitochondria|regulation of protein complex assembly|regulation of protein ubiquitination|response to stress	cytosol|integral to membrane|mitochondrial outer membrane	ATP binding|C3HC4-type RING finger domain binding|calcium-dependent protein kinase activity|magnesium ion binding|protein serine/threonine kinase activity|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)	14		all_lung(284;2.72e-05)|Lung NSC(340;2.94e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000147)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.21e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000146)|Kidney(64;0.000182)|GBM - Glioblastoma multiforme(114;0.000497)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00308)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		GTTGCTTCCAGGGAGAGGCCC	0.602													25	25					4.43304e-23	5.83472e-23	1	1	0	T	20964524	G	T	20964524	3	4	81	1	0	0	0	0	1	0	0	0	11980	1000	35	4	583	4	PINK1	1	20964524	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	446769	20964524	228286097	214	3830											
KIF17	57576	broad.mit.edu	37	1	21016709	21016709	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:21016709C>T	ENST00000247986.2	-	7	1663	c.1353G>A	c.(1351-1353)acG>acA	p.T451T	KIF17_ENST00000490034.1_5'UTR|KIF17_ENST00000400463.3_Silent_p.T451T|KIF17_ENST00000375044.1_Silent_p.T351T			Q9P2E2	KIF17_HUMAN	kinesin family member 17	451					microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding	p.T451T(1)		NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		TCTCCTCCAGCGTGGACAGCC	0.627													6	58					0	0	1	0	0	T	21016709	C	T	21016709	2	4	81	1	0	0	0	0	0	0	0	1	8321	755	27	1		1	KIF17	1	21016709	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	52185	21016709	228233912	215	3831											
KIF17	57576	broad.mit.edu	37	1	21031096	21031096	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:21031096G>T	ENST00000247986.2	-	5	1277	c.967C>A	c.(967-969)Ctc>Atc	p.L323I	KIF17_ENST00000400463.3_Missense_Mutation_p.L323I|KIF17_ENST00000375044.1_Missense_Mutation_p.L223I			Q9P2E2	KIF17_HUMAN	kinesin family member 17	323					microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding			NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		AGCGTGCTGAGTGTCTCATCG	0.617													7	48					0.0581538	0.0592525	1	1	0	T	21031096	G	T	21031096	3	4	81	1	0	0	0	0	1	0	0	0	8321	1029	36	4	2166	4	KIF17	1	21031096	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	14387	21031096	228219525	216	3832											
KIF17	57576	broad.mit.edu	37	1	21031210	21031210	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:21031210C>T	ENST00000247986.2	-	5	1163	c.853G>A	c.(853-855)Gtc>Atc	p.V285I	KIF17_ENST00000400463.3_Missense_Mutation_p.V285I|KIF17_ENST00000375044.1_Missense_Mutation_p.V185I			Q9P2E2	KIF17_HUMAN	kinesin family member 17	285					microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding	p.V285I(1)		NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		CGGTAGGGGACGTGCTTACAG	0.652													21	27					0	0	1	0	0	T	21031210	C	T	21031210	3	4	81	1	0	0	0	0	1	0	0	0	8321	536	19	1	2280	1	KIF17	1	21031210	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	114	21031210	228219411	217	3833											
EIF4G3	8672	broad.mit.edu	37	1	21137325	21137325	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:21137325C>T	ENST00000602326.1	-	34	5083	c.4500G>A	c.(4498-4500)ccG>ccA	p.P1500P	EIF4G3_ENST00000400422.1_Silent_p.P1494P|EIF4G3_ENST00000537738.1_Silent_p.P984P|EIF4G3_ENST00000536266.1_Silent_p.P1098P|EIF4G3_ENST00000264211.8_Silent_p.P1494P|EIF4G3_ENST00000374935.3_Silent_p.P1214P|EIF4G3_ENST00000374937.3_Silent_p.P1500P	NM_001198802.1	NP_001185731.1	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	1494	EIF4A-binding (By similarity).|W2.				interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|RNA cap binding|translation initiation factor activity			endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		TGAGTAAGATCGGCACTCTCT	0.413													36	72					0	0	1	0	0	T	21137325	C	T	21137325	2	4	81	1	0	0	0	0	0	0	0	1	5066	871	31	1		1	EIF4G3	1	21137325	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	106115	21137325	228113296	218	3834											
EIF4G3	8672	broad.mit.edu	37	1	21191064	21191064	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:21191064C>T	ENST00000602326.1	-	20	3344	c.2761G>A	c.(2761-2763)Gtg>Atg	p.V921M	EIF4G3_ENST00000400422.1_Missense_Mutation_p.V915M|EIF4G3_ENST00000537738.1_Missense_Mutation_p.V405M|EIF4G3_ENST00000536266.1_Missense_Mutation_p.V519M|EIF4G3_ENST00000264211.8_Missense_Mutation_p.V915M|EIF4G3_ENST00000374935.3_Missense_Mutation_p.V635M|EIF4G3_ENST00000374937.3_Missense_Mutation_p.V921M	NM_001198802.1	NP_001185731.1	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	915	MIF4G.|eIF3/EIF4A-binding (By similarity).				interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|RNA cap binding|translation initiation factor activity			endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		AGCAGCTTCACCACACAGTCA	0.458													14	146					0	0	1	0	0	T	21191064	C	T	21191064	3	4	81	1	0	0	0	0	1	0	0	0	5066	507	18	2	2078	2	EIF4G3	1	21191064	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	53739	21191064	228059557	219	3835											
ECE1	1889	broad.mit.edu	37	1	21551875	21551875	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:21551875C>A	ENST00000415912.2	-	17	1985	c.1860G>T	c.(1858-1860)gaG>gaT	p.E620D	ECE1_ENST00000357071.4_Missense_Mutation_p.E624D|ECE1_ENST00000374893.6_Missense_Mutation_p.E636D|ECE1_ENST00000264205.6_Missense_Mutation_p.E633D|ECE1_ENST00000436918.2_Missense_Mutation_p.E636D	NM_001113348.1	NP_001106819.1	P42892	ECE1_HUMAN	endothelin converting enzyme 1	636					bradykinin catabolic process|calcitonin catabolic process|ear development|embryonic digit morphogenesis|endothelin maturation|heart development|positive regulation of receptor recycling|substance P catabolic process	early endosome|external side of plasma membrane|integral to membrane|intrinsic to endosome membrane|membrane fraction|perinuclear region of cytoplasm|plasma membrane|Weibel-Palade body	metal ion binding|metalloendopeptidase activity|protein homodimerization activity			endometrium(5)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	25		Lung NSC(340;1.14e-05)|all_lung(284;1.23e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00147)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0183)|OV - Ovarian serous cystadenocarcinoma(117;4.83e-27)|COAD - Colon adenocarcinoma(152;1.36e-06)|GBM - Glioblastoma multiforme(114;1.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000162)|STAD - Stomach adenocarcinoma(196;0.00326)|KIRC - Kidney renal clear cell carcinoma(1967;0.00755)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.206)		GCTTGAAGGCCTCCACGGATG	0.622													4	31					0.00909568	0.00944708	1	1	0	A	21551875	C	A	21551875	3	1	81	1	0	0	0	0	1	0	0	0	4915	680	24	4	416	4	ECE1	1	21551875	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	360811	21551875	227698746	220	3836											
ECE1	1889	broad.mit.edu	37	1	21585273	21585273	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:21585273C>A	ENST00000415912.2	-	6	752	c.627G>T	c.(625-627)caG>caT	p.Q209H	ECE1_ENST00000357071.4_Missense_Mutation_p.Q213H|ECE1_ENST00000374893.6_Missense_Mutation_p.Q225H|ECE1_ENST00000264205.6_Missense_Mutation_p.Q222H|ECE1_ENST00000436918.2_Missense_Mutation_p.Q225H	NM_001113348.1	NP_001106819.1	P42892	ECE1_HUMAN	endothelin converting enzyme 1	225					bradykinin catabolic process|calcitonin catabolic process|ear development|embryonic digit morphogenesis|endothelin maturation|heart development|positive regulation of receptor recycling|substance P catabolic process	early endosome|external side of plasma membrane|integral to membrane|intrinsic to endosome membrane|membrane fraction|perinuclear region of cytoplasm|plasma membrane|Weibel-Palade body	metal ion binding|metalloendopeptidase activity|protein homodimerization activity			endometrium(5)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	25		Lung NSC(340;1.14e-05)|all_lung(284;1.23e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00147)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0183)|OV - Ovarian serous cystadenocarcinoma(117;4.83e-27)|COAD - Colon adenocarcinoma(152;1.36e-06)|GBM - Glioblastoma multiforme(114;1.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000162)|STAD - Stomach adenocarcinoma(196;0.00326)|KIRC - Kidney renal clear cell carcinoma(1967;0.00755)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.206)		CGGTGACCACCTGCAGGGTGT	0.602													5	47					0.0215528	0.0221217	1	1	0	A	21585273	C	A	21585273	3	1	81	1	0	0	0	0	1	0	0	0	4915	680	24	4	1693	4	ECE1	1	21585273	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	33398	21585273	227665348	221	3837											
NBPF3	84224	broad.mit.edu	37	1	21800061	21800061	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:21800061C>T	ENST00000318220.6	+	10	1803	c.755C>T	c.(754-756)gCt>gTt	p.A252V	NBPF3_ENST00000342104.5_Missense_Mutation_p.A308V|NBPF3_ENST00000454000.2_Missense_Mutation_p.A238V|NBPF3_ENST00000318249.5_Missense_Mutation_p.A308V			Q9H094	NBPF3_HUMAN	neuroblastoma breakpoint family, member 3	308	NBPF 1.					cytoplasm				breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	20		all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		TGGTTGGATGCTGTATGCATT	0.443													65	98					0	0	1	0	0	T	21800061	C	T	21800061	3	4	81	1	0	0	0	0	1	0	0	0	10245	797	28	2	945	2	NBPF3	1	21800061	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	214788	21800061	227450560	222	3838											
RAP1GAP	5909	broad.mit.edu	37	1	21930309	21930309	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:21930309C>T	ENST00000374763.2	-	16	1533	c.1525G>A	c.(1525-1527)Gcc>Acc	p.A509T	RAP1GAP_ENST00000374765.4_Intron|RAP1GAP_ENST00000290101.4_Intron|RAP1GAP_ENST00000542643.2_Intron|RAP1GAP_ENST00000374761.2_Intron			P47736	RPGP1_HUMAN	RAP1 GTPase activating protein	515					regulation of Ras GTPase activity|signal transduction	cytosol|Golgi membrane|membrane fraction	GTPase activator activity|GTPase activity|protein homodimerization activity|Ras GTPase binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	17		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000861)|all_lung(284;0.000901)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;2.3e-26)|COAD - Colon adenocarcinoma(152;1.59e-05)|GBM - Glioblastoma multiforme(114;2.7e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000354)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00862)|READ - Rectum adenocarcinoma(331;0.0625)|Lung(427;0.146)		CCAGAGCCGGCGGCCCCGCGG	0.647													6	14					0	0	1	0	0	T	21930309	C	T	21930309	3	4	81	1	0	0	0	0	1	0	0	0	13089	783	27	1		1	RAP1GAP	1	21930309	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	130248	21930309	227320312	223	3839											
RAP1GAP	5909	broad.mit.edu	37	1	21937987	21937987	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:21937987G>A	ENST00000542643.2	-	14	1103	c.801C>T	c.(799-801)caC>caT	p.H267H	RAP1GAP_ENST00000374765.4_Silent_p.H267H|RAP1GAP_ENST00000290101.4_Silent_p.H331H|RAP1GAP_ENST00000374761.2_Silent_p.H298H|RAP1GAP_ENST00000374763.2_Silent_p.H267H	NM_001145657.1	NP_001139129.1	P47736	RPGP1_HUMAN	RAP1 GTPase activating protein	267	Rap-GAP.				regulation of Ras GTPase activity|signal transduction	cytosol|Golgi membrane|membrane fraction	GTPase activator activity|GTPase activity|protein homodimerization activity|Ras GTPase binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	17		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000861)|all_lung(284;0.000901)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;2.3e-26)|COAD - Colon adenocarcinoma(152;1.59e-05)|GBM - Glioblastoma multiforme(114;2.7e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000354)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00862)|READ - Rectum adenocarcinoma(331;0.0625)|Lung(427;0.146)		TGGTGGACACGTGAAACATGA	0.642													19	20					0	0	1	0	0	A	21937987	G	A	21937987	2	1	81	1	0	0	0	0	0	0	0	1	13089	1136	40	1		1	RAP1GAP	1	21937987	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	7678	21937987	227312634	224	3840											
RAP1GAP	5909	broad.mit.edu	37	1	21938056	21938056	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:21938056G>A	ENST00000542643.2	-	14	1034	c.732C>T	c.(730-732)gaC>gaT	p.D244D	RAP1GAP_ENST00000374765.4_Silent_p.D244D|RAP1GAP_ENST00000290101.4_Silent_p.D308D|RAP1GAP_ENST00000374761.2_Silent_p.D275D|RAP1GAP_ENST00000374763.2_Silent_p.D244D	NM_001145657.1	NP_001139129.1	P47736	RPGP1_HUMAN	RAP1 GTPase activating protein	244	Rap-GAP.				regulation of Ras GTPase activity|signal transduction	cytosol|Golgi membrane|membrane fraction	GTPase activator activity|GTPase activity|protein homodimerization activity|Ras GTPase binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	17		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000861)|all_lung(284;0.000901)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;2.3e-26)|COAD - Colon adenocarcinoma(152;1.59e-05)|GBM - Glioblastoma multiforme(114;2.7e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000354)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00862)|READ - Rectum adenocarcinoma(331;0.0625)|Lung(427;0.146)		CGTGGGTCACGTCCAGGCCTC	0.662													22	38					0	0	1	0	0	A	21938056	G	A	21938056	2	1	81	1	0	0	0	0	0	0	0	1	13089	1136	40	1		1	RAP1GAP	1	21938056	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	69	21938056	227312565	225	3841											
RAP1GAP	5909	broad.mit.edu	37	1	21946512	21946512	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:21946512A>G	ENST00000542643.2	-	5	316	c.14T>C	c.(13-15)aTg>aCg	p.M5T	RAP1GAP_ENST00000374765.4_Missense_Mutation_p.M5T|RAP1GAP_ENST00000290101.4_Missense_Mutation_p.M69T|RAP1GAP_ENST00000374761.2_Missense_Mutation_p.M36T|RAP1GAP_ENST00000374763.2_Missense_Mutation_p.M5T|RAP1GAP_ENST00000374757.3_5'UTR	NM_001145657.1	NP_001139129.1	P47736	RPGP1_HUMAN	RAP1 GTPase activating protein	5	GoLoco.				regulation of Ras GTPase activity|signal transduction	cytosol|Golgi membrane|membrane fraction	GTPase activator activity|GTPase activity|protein homodimerization activity|Ras GTPase binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	17		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000861)|all_lung(284;0.000901)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;2.3e-26)|COAD - Colon adenocarcinoma(152;1.59e-05)|GBM - Glioblastoma multiforme(114;2.7e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000354)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00862)|READ - Rectum adenocarcinoma(331;0.0625)|Lung(427;0.146)		CCTCACCTGCATCTTCTCAAT	0.617													14	38					0	0	1	0	0	G	21946512	A	G	21946512	3	3	81	1	0	0	0	0	1	0	0	0	13089	217	8	3	2143	3	RAP1GAP	1	21946512	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	8456	21946512	227304109	226	3842											
USP48	84196	broad.mit.edu	37	1	22047590	22047590	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:22047590A>G	ENST00000308271.9	-	14	2481	c.1833T>C	c.(1831-1833)gaT>gaC	p.D611D	USP48_ENST00000529637.1_Silent_p.D610D|USP48_ENST00000400301.1_Silent_p.D611D|USP48_ENST00000374732.3_Silent_p.D149D	NM_032236.5	NP_115612.4	Q86UV5	UBP48_HUMAN	ubiquitin specific peptidase 48	611	DUSP 2.				ubiquitin-dependent protein catabolic process	mitochondrion|nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(14)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;4.66e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|OV - Ovarian serous cystadenocarcinoma(117;4.74e-26)|COAD - Colon adenocarcinoma(152;1.3e-05)|GBM - Glioblastoma multiforme(114;1.86e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000614)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00711)|Lung(427;0.0327)|READ - Rectum adenocarcinoma(331;0.0657)|LUSC - Lung squamous cell carcinoma(448;0.0753)		CATCTTGCTCATCCAGCTGTT	0.438													46	79					0	0	1	0	0	G	22047590	A	G	22047590	2	3	81	1	0	0	0	0	0	0	0	1	17139	214	8	3		3	USP48	1	22047590	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	101078	22047590	227203031	227	3843											
LDLRAD2	401944	broad.mit.edu	37	1	22141118	22141118	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:22141118G>A	ENST00000344642.2	+	2	500	c.313G>A	c.(313-315)Gac>Aac	p.D105N	LDLRAD2_ENST00000543870.1_Missense_Mutation_p.D105N	NM_001013693.2	NP_001013715.2	Q5SZI1	LRAD2_HUMAN	low density lipoprotein receptor class A domain containing 2	105						integral to membrane	receptor activity			endometrium(2)|large_intestine(1)|lung(3)	6		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.00166)|all_lung(284;0.00172)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;5.2e-26)|COAD - Colon adenocarcinoma(152;1.13e-05)|GBM - Glioblastoma multiforme(114;1.36e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00598)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.197)		GGCCCCGGCCGACCCGTGCGC	0.756													10	8					0	0	1	0	0	A	22141118	G	A	22141118	3	1	81	1	0	0	0	0	1	0	0	0	8745	1058	37	1	319	1	LDLRAD2	1	22141118	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	93528	22141118	227109503	228	3844											
HSPG2	3339	broad.mit.edu	37	1	22155933	22155933	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:22155933A>G	ENST00000374695.3	-	87	12014	c.11935T>C	c.(11935-11937)Ttc>Ctc	p.F3979L	HSPG2_ENST00000486901.1_5'UTR	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	3979	Laminin G-like 2.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	AGGGACACGAAGTCCTCCACA	0.642													3	46					0	0	1	0	0	G	22155933	A	G	22155933	3	3	81	1	0	0	0	0	1	0	0	0	7474	72	3	3	1284	3	HSPG2	1	22155933	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	14815	22155933	227094688	229	3845											
HSPG2	3339	broad.mit.edu	37	1	22162127	22162127	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:22162127G>A	ENST00000374695.3	-	76	10438	c.10359C>T	c.(10357-10359)atC>atT	p.I3453I		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	3453	Ig-like C2-type 20.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	CCAAGTTCTGGATTCTATAAA	0.502													12	21					0	0	1	0	0	A	22162127	G	A	22162127	2	1	81	1	0	0	0	0	0	0	0	1	7474	1164	41	2		2	HSPG2	1	22162127	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	6194	22162127	227088494	230	3846											
HSPG2	3339	broad.mit.edu	37	1	22168809	22168809	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:22168809C>T	ENST00000374695.3	-	68	9054	c.8975G>A	c.(8974-8976)cGt>cAt	p.R2992H		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	2992	Ig-like C2-type 15.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	GCTGGCTGCACGACACACATA	0.632													10	16					0	0	1	0	0	T	22168809	C	T	22168809	3	4	81	1	0	0	0	0	1	0	0	0	7474	536	19	1	4320	1	HSPG2	1	22168809	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	6682	22168809	227081812	231	3847											
HSPG2	3339	broad.mit.edu	37	1	22181199	22181199	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:22181199C>A	ENST00000374695.3	-	49	6272	c.6193G>T	c.(6193-6195)Ggg>Tgg	p.G2065W	HSPG2_ENST00000430507.1_Missense_Mutation_p.G15W	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	2065	Ig-like C2-type 6.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	AGTGTTTGCCCTTCTGTCACA	0.642													6	10					2.0095e-06	2.30238e-06	1	1	0	A	22181199	C	A	22181199	3	1	81	1	0	0	0	0	1	0	0	0	7474	681	24	4	7178	4	HSPG2	1	22181199	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	12390	22181199	227069422	232	3848											
HSPG2	3339	broad.mit.edu	37	1	22181426	22181426	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:22181426C>T	ENST00000374695.3	-	48	6127	c.6048G>A	c.(6046-6048)acG>acA	p.T2016T	HSPG2_ENST00000430507.1_5'UTR	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	2016	Ig-like C2-type 5.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	CGTCAGCAGTCGTGATGGCTG	0.652													13	20					0	0	1	0	0	T	22181426	C	T	22181426	2	4	81	1	0	0	0	0	0	0	0	1	7474	871	31	1		1	HSPG2	1	22181426	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	227	22181426	227069195	233	3849											
HSPG2	3339	broad.mit.edu	37	1	22188562	22188562	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:22188562G>T	ENST00000374695.3	-	38	4866	c.4787C>A	c.(4786-4788)cCt>cAt	p.P1596H		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	1596	Laminin EGF-like 10.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	GTAGTAGCCAGGGGCACAAAG	0.612													8	65					0.000157383	0.000171784	1	1	0	T	22188562	G	T	22188562	3	4	81	1	0	0	0	0	1	0	0	0	7474	1000	35	4	8628	4	HSPG2	1	22188562	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	7136	22188562	227062059	234	3850											
HSPG2	3339	broad.mit.edu	37	1	22200957	22200957	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:22200957G>A	ENST00000374695.3	-	28	3677	c.3598C>T	c.(3598-3600)Cgg>Tgg	p.R1200W		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	1200	Laminin EGF-like 6.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	GGTGTCCCCCGCTGGGCGTCC	0.667													16	18					0	0	1	0	0	A	22200957	G	A	22200957	3	1	81	1	0	0	0	0	1	0	0	0	7474	1086	38	1	9857	1	HSPG2	1	22200957	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	12395	22200957	227049664	235	3851											
CELA3A	10136	broad.mit.edu	37	1	22333432	22333432	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:22333432G>A	ENST00000290122.3	+	5	443	c.424G>A	c.(424-426)Gcc>Acc	p.A142T		NM_005747.4	NP_005738.4			chymotrypsin-like elastase family, member 3A											endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CGTCCAGCTCGCCTCACTCCC	0.622													37	8					0	0	1	0	0	A	22333432	G	A	22333432	3	1	81	1	0	0	0	0	1	0	0	0	3235	1087	38	1	442	1	CELA3A	1	22333432	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	132475	22333432	226917189	236	3852											
ZBTB40	9923	broad.mit.edu	37	1	22828087	22828087	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:22828087C>A	ENST00000404138.1	+	5	1445	c.934C>A	c.(934-936)Ctg>Atg	p.L312M	ZBTB40_ENST00000375647.4_Missense_Mutation_p.L312M|ZBTB40_ENST00000374651.4_Intron	NM_001083621.1	NP_001077090.1	Q9NUA8	ZBT40_HUMAN	zinc finger and BTB domain containing 40	312					bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)		TGTTGTGTCCCTGTTGAGGCT	0.443													5	51					1.23904e-05	1.39156e-05	1	1	0	A	22828087	C	A	22828087	3	1	81	1	0	0	0	0	1	0	0	0	17601	680	24	4	944	4	ZBTB40	1	22828087	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	494655	22828087	226422534	237	3853											
ZBTB40	9923	broad.mit.edu	37	1	22848034	22848034	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:22848034G>A	ENST00000404138.1	+	16	3605	c.3094G>A	c.(3094-3096)Gta>Ata	p.V1032I	ZBTB40_ENST00000375647.4_Missense_Mutation_p.V1032I|ZBTB40_ENST00000374651.4_Missense_Mutation_p.V920I	NM_001083621.1	NP_001077090.1	Q9NUA8	ZBT40_HUMAN	zinc finger and BTB domain containing 40	1032					bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)		CCACCCTGACGTATTTGCTGC	0.488													28	45					0	0	1	0	0	A	22848034	G	A	22848034	3	1	81	1	0	0	0	0	1	0	0	0	17601	1145	40	1	3148	1	ZBTB40	1	22848034	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	19947	22848034	226402587	238	3854											
EPHA8	2046	broad.mit.edu	37	1	22902764	22902764	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:22902764G>A	ENST00000166244.3	+	3	286	c.214G>A	c.(214-216)Gtt>Att	p.V72I	EPHA8_ENST00000538803.1_Missense_Mutation_p.V72I|EPHA8_ENST00000374644.4_Missense_Mutation_p.V72I	NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	72						integral to plasma membrane	ATP binding|ephrin receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		CACGTACCAGGTTTGCAACGT	0.602													34	71					0	0	1	0	0	A	22902764	G	A	22902764	3	1	81	1	0	0	0	0	1	0	0	0	5201	1261	44	2	224	2	EPHA8	1	22902764	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	54730	22902764	226347857	239	3855											
EPHA8	2046	broad.mit.edu	37	1	22903303	22903303	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:22903303C>T	ENST00000166244.3	+	3	825	c.753C>T	c.(751-753)ggC>ggT	p.G251G	EPHA8_ENST00000538803.1_Silent_p.G251G|EPHA8_ENST00000374644.4_Silent_p.G251G	NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	251	Cys-rich.					integral to plasma membrane	ATP binding|ephrin receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		GCGCGGAGGGCGAGTGGCTCG	0.682													14	13					0	0	1	0	0	T	22903303	C	T	22903303	2	4	81	1	0	0	0	0	0	0	0	1	5201	755	27	1		1	EPHA8	1	22903303	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	539	22903303	226347318	240	3856											
EPHA8	2046	broad.mit.edu	37	1	22927938	22927938	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:22927938C>A	ENST00000166244.3	+	16	2947	c.2875C>A	c.(2875-2877)Ctg>Atg	p.L959M		NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	959	SAM.					integral to plasma membrane	ATP binding|ephrin receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		ATACTCCTCTCTGGGCATGGT	0.711													17	39					6.49762e-13	8.15126e-13	1	1	0	A	22927938	C	A	22927938	3	1	81	1	0	0	0	0	1	0	0	0	5201	912	32	4	3110	4	EPHA8	1	22927938	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	24635	22927938	226322683	241	3857											
C1QA	712	broad.mit.edu	37	1	22965517	22965517	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:22965517G>A	ENST00000374642.3	+	3	559	c.355G>A	c.(355-357)Gcc>Acc	p.A119T	C1QA_ENST00000402322.1_Missense_Mutation_p.A119T	NM_015991.2	NP_057075.1	P02745	C1QA_HUMAN	complement component 1, q subcomponent, A chain	119	C1q.				cell-cell signaling|complement activation, classical pathway|innate immune response	collagen|complement component C1 complex				autonomic_ganglia(1)|liver(1)|lung(3)|skin(1)	6		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.41e-27)|Colorectal(126;1.52e-07)|COAD - Colon adenocarcinoma(152;1.12e-05)|GBM - Glioblastoma multiforme(114;1.63e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000541)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.197)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	AGCCTTCTCCGCCATTCGGCG	0.637													9	8					0	0	1	0	0	A	22965517	G	A	22965517	3	1	81	1	0	0	0	0	1	0	0	0	1967	1087	38	1	361	1	C1QA	1	22965517	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	37579	22965517	226285104	242	3858											
C1QA	712	broad.mit.edu	37	1	22965859	22965859	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:22965859G>A	ENST00000374642.3	+	3	901	c.697G>A	c.(697-699)Gac>Aac	p.D233N	C1QA_ENST00000402322.1_Missense_Mutation_p.D233N	NM_015991.2	NP_057075.1	P02745	C1QA_HUMAN	complement component 1, q subcomponent, A chain	233	C1q.				cell-cell signaling|complement activation, classical pathway|innate immune response	collagen|complement component C1 complex				autonomic_ganglia(1)|liver(1)|lung(3)|skin(1)	6		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.41e-27)|Colorectal(126;1.52e-07)|COAD - Colon adenocarcinoma(152;1.12e-05)|GBM - Glioblastoma multiforme(114;1.63e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000541)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.197)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	CTCTGAGGCCGACAGCGTCTT	0.597													14	15					0	0	1	0	0	A	22965859	G	A	22965859	3	1	81	1	0	0	0	0	1	0	0	0	1967	1058	37	1	703	1	C1QA	1	22965859	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	342	22965859	226284762	243	3859											
C1QB	713	broad.mit.edu	37	1	22986052	22986052	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:22986052C>T	ENST00000509305.1	+	2	443	c.97C>T	c.(97-99)Cca>Tca	p.P33S	C1QB_ENST00000314933.6_Missense_Mutation_p.P35S			P02746	C1QB_HUMAN	complement component 1, q subcomponent, B chain	35					complement activation, classical pathway|innate immune response	collagen|complement component C1 complex				breast(1)|endometrium(2)|large_intestine(1)|lung(9)|prostate(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.06e-27)|Colorectal(126;1.58e-07)|GBM - Glioblastoma multiforme(114;6.72e-06)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000551)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	CACCGGGCCCCCAGCCATCCC	0.602													5	30					0	0	1	0	0	T	22986052	C	T	22986052	3	4	81	1	0	0	0	0	1	0	0	0	1968	623	22	2	105	2	C1QB	1	22986052	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	20193	22986052	226264569	244	3860											
C1QB	713	broad.mit.edu	37	1	22987483	22987483	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:22987483C>T	ENST00000509305.1	+	3	706	c.360C>T	c.(358-360)atC>atT	p.I120I	C1QB_ENST00000314933.6_Silent_p.I122I			P02746	C1QB_HUMAN	complement component 1, q subcomponent, B chain	122	C1q.				complement activation, classical pathway|innate immune response	collagen|complement component C1 complex				breast(1)|endometrium(2)|large_intestine(1)|lung(9)|prostate(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.06e-27)|Colorectal(126;1.58e-07)|GBM - Glioblastoma multiforme(114;6.72e-06)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000551)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	CCCAGAAAATCGCCTTCTCTG	0.617													32	63					0	0	1	0	0	T	22987483	C	T	22987483	2	4	81	1	0	0	0	0	0	0	0	1	1968	874	31	1		1	C1QB	1	22987483	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1431	22987483	226263138	245	3861											
EPHB2	2048	broad.mit.edu	37	1	23111440	23111440	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:23111440G>A	ENST00000400191.3	+	3	700	c.682G>A	c.(682-684)Gcc>Acc	p.A228T	EPHB2_ENST00000374627.1_Missense_Mutation_p.A222T|EPHB2_ENST00000374632.3_Missense_Mutation_p.A228T|EPHB2_ENST00000544305.1_Missense_Mutation_p.A228T|EPHB2_ENST00000374630.3_Missense_Mutation_p.A228T	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN	EPH receptor B2	228	Cys-rich.				axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		CAGCTGCATCGCCAATGCGGA	0.632													25	42					0	0	1	0	0	A	23111440	G	A	23111440	3	1	81	1	0	0	0	0	1	0	0	0	5203	1087	38	1	692	1	EPHB2	1	23111440	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	123957	23111440	226139181	246	3862											
EPHB2	2048	broad.mit.edu	37	1	23111559	23111559	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:23111559C>T	ENST00000400191.3	+	3	819	c.801C>T	c.(799-801)acC>acT	p.T267T	EPHB2_ENST00000374627.1_Silent_p.T261T|EPHB2_ENST00000374632.3_Silent_p.T267T|EPHB2_ENST00000544305.1_Silent_p.T267T|EPHB2_ENST00000374630.3_Silent_p.T267T	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN	EPH receptor B2	267	Cys-rich.				axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		AGAATGGCACCGTCTGCCGAG	0.622													22	37					0	0	1	0	0	T	23111559	C	T	23111559	2	4	81	1	0	0	0	0	0	0	0	1	5203	639	23	1		1	EPHB2	1	23111559	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	119	23111559	226139062	247	3863											
KDM1A	23028	broad.mit.edu	37	1	23381585	23381585	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:23381585G>T	ENST00000400181.4	+	6	918	c.814G>T	c.(814-816)Gtt>Ttt	p.V272F	RP1-184J9.2_ENST00000427154.1_RNA|KDM1A_ENST00000356634.3_Missense_Mutation_p.V252F|KDM1A_ENST00000542151.1_Missense_Mutation_p.V272F	NM_001009999.2	NP_001009999.1	O60341	KDM1A_HUMAN	lysine (K)-specific demethylase 1A	252	SWIRM.				blood coagulation|muscle cell development|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of protein binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nuclear chromatin	androgen receptor binding|chromatin binding|enzyme binding|flavin adenine dinucleotide binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-K9 specific)|ligand-dependent nuclear receptor transcription coactivator activity|MyoD binding|oxidoreductase activity|p53 binding|transcription regulatory region DNA binding			breast(2)|central_nervous_system(2)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						TGTCCACCGAGTTCACAGTTA	0.378													73	124					9.0989e-53	1.22545e-52	1	1	0	T	23381585	G	T	23381585	3	4	81	1	0	0	0	0	1	0	0	0	8166	1029	36	4	836	4	KDM1A	1	23381585	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	270026	23381585	225869036	248	3864											
KDM1A	23028	broad.mit.edu	37	1	23385652	23385652	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:23385652G>A	ENST00000400181.4	+	9	1263	c.1159G>A	c.(1159-1161)Gga>Aga	p.G387R	RP1-184J9.2_ENST00000427154.1_RNA|KDM1A_ENST00000356634.3_Missense_Mutation_p.G367R|KDM1A_ENST00000542151.1_Missense_Mutation_p.G387R	NM_001009999.2	NP_001009999.1	O60341	KDM1A_HUMAN	lysine (K)-specific demethylase 1A	367	Demethylase activity.				blood coagulation|muscle cell development|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of protein binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nuclear chromatin	androgen receptor binding|chromatin binding|enzyme binding|flavin adenine dinucleotide binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-K9 specific)|ligand-dependent nuclear receptor transcription coactivator activity|MyoD binding|oxidoreductase activity|p53 binding|transcription regulatory region DNA binding			breast(2)|central_nervous_system(2)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						TGAAGCCAACGGACAAGCTGT	0.383													6	35					0	0	1	0	0	A	23385652	G	A	23385652	3	1	81	1	0	0	0	0	1	0	0	0	8166	1117	39	1	1193	1	KDM1A	1	23385652	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	4067	23385652	225864969	249	3865											
LUZP1	7798	broad.mit.edu	37	1	23418567	23418567	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:23418567G>A	ENST00000302291.4	-	4	2989	c.2188C>T	c.(2188-2190)Ctc>Ttc	p.L730F	LUZP1_ENST00000418342.1_Missense_Mutation_p.L730F|LUZP1_ENST00000314174.5_Missense_Mutation_p.L730F|LUZP1_ENST00000374623.3_Missense_Mutation_p.L730F			Q86V48	LUZP1_HUMAN	leucine zipper protein 1	730						nucleus				NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(2)	31		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)		GTATCTGGGAGCTCCATGGTA	0.483													105	168					0	0	1	0	0	A	23418567	G	A	23418567	3	1	81	1	0	0	0	0	1	0	0	0	9131	971	34	2	1050	2	LUZP1	1	23418567	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	32915	23418567	225832054	250	3866											
LUZP1	7798	broad.mit.edu	37	1	23419182	23419182	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:23419182C>T	ENST00000302291.4	-	4	2374	c.1573G>A	c.(1573-1575)Ggt>Agt	p.G525S	LUZP1_ENST00000418342.1_Missense_Mutation_p.G525S|LUZP1_ENST00000314174.5_Missense_Mutation_p.G525S|LUZP1_ENST00000374623.3_Missense_Mutation_p.G525S			Q86V48	LUZP1_HUMAN	leucine zipper protein 1	525						nucleus				NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(2)	31		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)		TCAGCTCTACCCAATGGGTCA	0.532													20	146					0	0	1	0	0	T	23419182	C	T	23419182	3	4	81	1	0	0	0	0	1	0	0	0	9131	623	22	2	1665	2	LUZP1	1	23419182	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	615	23419182	225831439	251	3867											
LUZP1	7798	broad.mit.edu	37	1	23420599	23420599	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:23420599A>G	ENST00000302291.4	-	4	957	c.156T>C	c.(154-156)atT>atC	p.I52I	LUZP1_ENST00000418342.1_Silent_p.I52I|LUZP1_ENST00000314174.5_Silent_p.I52I|LUZP1_ENST00000374623.3_Silent_p.I52I			Q86V48	LUZP1_HUMAN	leucine zipper protein 1	52						nucleus				NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(2)	31		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)		CTTCTGCCTGAATCACCTTGT	0.517													11	111					0	0	1	0	0	G	23420599	A	G	23420599	2	3	81	1	0	0	0	0	0	0	0	1	9131	242	9	3		3	LUZP1	1	23420599	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	1417	23420599	225830022	252	3868											
HTR1D	3352	broad.mit.edu	37	1	23520460	23520460	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:23520460G>T	ENST00000374619.1	-	1	762	c.253C>A	c.(253-255)Ctc>Atc	p.L85I	HTR1D_ENST00000314113.3_Missense_Mutation_p.L85I	NM_000864.4	NP_000855.1	P28221	5HT1D_HUMAN	5-hydroxytryptamine (serotonin) receptor 1D, G protein-coupled	85					G-protein signaling, coupled to cyclic nucleotide second messenger|intestine smooth muscle contraction|synaptic transmission	integral to plasma membrane	serotonin receptor activity			NS(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000779)|all_lung(284;0.00135)|Breast(348;0.0385)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0561)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;4.69e-27)|Colorectal(126;4.86e-08)|COAD - Colon adenocarcinoma(152;2.86e-06)|GBM - Glioblastoma multiforme(114;0.00012)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(1967;0.00122)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.083)|LUSC - Lung squamous cell carcinoma(448;0.185)	Almotriptan(DB00918)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Tegaserod(DB01079)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	GAAACCAAGAGGTCGGTGGTG	0.532													9	102					0.000274275	0.000297259	1	1	0	T	23520460	G	T	23520460	3	4	81	1	0	0	0	0	1	0	0	0	7482	1000	35	4	884	4	HTR1D	1	23520460	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	99861	23520460	225730161	253	3869											
HNRNPR	10236	broad.mit.edu	37	1	23650213	23650213	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:23650213T>C	ENST00000478691.1	-	5	479	c.208A>G	c.(208-210)Aaa>Gaa	p.K70E	HNRNPR_ENST00000374612.1_Missense_Mutation_p.K171E|HNRNPR_ENST00000302271.6_Missense_Mutation_p.K171E|HNRNPR_ENST00000374616.3_Missense_Mutation_p.K171E|HNRNPR_ENST00000426846.2_Intron|HNRNPR_ENST00000606561.1_Missense_Mutation_p.K32E|HNRNPR_ENST00000427764.2_Missense_Mutation_p.K133E	NM_001102397.1|NM_001102399.1	NP_001095867.1|NP_001095869.1	O43390	HNRPR_HUMAN	heterogeneous nuclear ribonucleoprotein R	171	Asp/Glu-rich (acidic).					catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00394)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;6.83e-27)|Colorectal(126;6.01e-08)|COAD - Colon adenocarcinoma(152;3.32e-06)|GBM - Glioblastoma multiforme(114;6.69e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00357)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0875)|LUSC - Lung squamous cell carcinoma(448;0.19)		CTTGGTATTTTGCCTACAAAT	0.408													7	62					0	0	1	0	0	C	23650213	T	C	23650213	3	2	81	1	0	0	0	0	1	0	0	0	7313	1821	63	3	1423	3	HNRNPR	1	23650213	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	129753	23650213	225600408	254	3870											
ID3	3399	broad.mit.edu	37	1	23885873	23885873	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:23885873G>A	ENST00000374561.5	-	1	412	c.45C>T	c.(43-45)tgC>tgT	p.C15C	ID3_ENST00000486541.1_5'UTR	NM_002167.4	NP_002158.3	Q02535	ID3_HUMAN	inhibitor of DNA binding 3, dominant negative helix-loop-helix protein	15					negative regulation of sequence-specific DNA binding transcription factor activity		transcription corepressor activity			central_nervous_system(1)|lung(3)	4		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00314)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;8.83e-25)|Colorectal(126;4.8e-08)|COAD - Colon adenocarcinoma(152;2.83e-06)|GBM - Glioblastoma multiforme(114;6.5e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|KIRC - Kidney renal clear cell carcinoma(1967;0.00314)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0827)|LUSC - Lung squamous cell carcinoma(448;0.184)		CCGACAGGCAGCACACCGCCT	0.642													18	16					0	0	1	0	0	A	23885873	G	A	23885873	2	1	81	1	0	0	0	0	0	0	0	1	7535	963	34	2		2	ID3	1	23885873	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	235660	23885873	225364748	255	3871											
TCEB3	6924	broad.mit.edu	37	1	24078310	24078310	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:24078310G>A	ENST00000418390.2	+	4	1564	c.1293G>A	c.(1291-1293)atG>atA	p.M431I	TCEB3_ENST00000609199.1_Missense_Mutation_p.M405I	NM_003198.2	NP_003189.2	Q14241	ELOA1_HUMAN	transcription elongation factor B (SIII), polypeptide 3 (110kDa, elongin A)	431					positive regulation of viral transcription|regulation of transcription from RNA polymerase II promoter|transcription elongation from RNA polymerase II promoter|viral reproduction	integral to membrane	DNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.42e-24)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;4.74e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|KIRC - Kidney renal clear cell carcinoma(1967;0.00334)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)		AGCCAACCATGTCTTTTGAAT	0.428											OREG0013232	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	96	161					0	0	1	0	0	A	24078310	G	A	24078310	3	1	81	1	0	0	0	0	1	0	0	0	15741	1377	48	2	1307	2	TCEB3	1	24078310	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	192437	24078310	225172311	256	3872											
CNR2	1269	broad.mit.edu	37	1	24201569	24201569	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:24201569G>T	ENST00000536471.1	-	3	797	c.539C>A	c.(538-540)tCt>tAt	p.S180Y	CNR2_ENST00000374472.4_Missense_Mutation_p.S180Y			P34972	CNR2_HUMAN	cannabinoid receptor 2 (macrophage)	180					behavior|G-protein signaling, coupled to cyclic nucleotide second messenger|immune response|inflammatory response	dendrite|integral to plasma membrane|perikaryon	cannabinoid receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(9)|pancreas(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(2)	26		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.00957)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.32e-24)|Colorectal(126;6.09e-08)|COAD - Colon adenocarcinoma(152;3.33e-06)|GBM - Glioblastoma multiforme(114;2.9e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00359)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.146)	Nabilone(DB00486)	GAAAAGCTCAGAGCAGGGCCT	0.567													4	40					0.184627	0.18622	1	1	0	T	24201569	G	T	24201569	3	4	81	1	0	0	0	0	1	0	0	0	3655	942	33	4	547	4	CNR2	1	24201569	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	123259	24201569	225049052	257	3873											
CNR2	1269	broad.mit.edu	37	1	24201629	24201629	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:24201629A>C	ENST00000536471.1	-	3	737	c.479T>G	c.(478-480)cTc>cGc	p.L160R	CNR2_ENST00000374472.4_Missense_Mutation_p.L160R			P34972	CNR2_HUMAN	cannabinoid receptor 2 (macrophage)	160					behavior|G-protein signaling, coupled to cyclic nucleotide second messenger|immune response|inflammatory response	dendrite|integral to plasma membrane|perikaryon	cannabinoid receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(9)|pancreas(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(2)	26		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.00957)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.32e-24)|Colorectal(126;6.09e-08)|COAD - Colon adenocarcinoma(152;3.33e-06)|GBM - Glioblastoma multiforme(114;2.9e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00359)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.146)	Nabilone(DB00486)	TAGTGCTGAGAGGACCCACAT	0.587													11	40					0	0	1	0	0	C	24201629	A	C	24201629	3	2	81	1	0	0	0	0	1	0	0	0	3655	304	11	5	607	5	CNR2	1	24201629	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	60	24201629	225048992	258	3874											
IL22RA1	58985	broad.mit.edu	37	1	24454689	24454689	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:24454689G>A	ENST00000270800.1	-	5	650	c.612C>T	c.(610-612)tgC>tgT	p.C204C		NM_021258.3	NP_067081.2	Q8N6P7	I22R1_HUMAN	interleukin 22 receptor, alpha 1	204	Fibronectin type-III 2.					integral to membrane	interferon receptor activity			breast(2)|endometrium(2)|large_intestine(4)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000992)|all_lung(284;0.00138)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-24)|Colorectal(126;6.43e-08)|COAD - Colon adenocarcinoma(152;3.51e-06)|GBM - Glioblastoma multiforme(114;5.06e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00911)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.148)		AGGTGGGAACGCAAATCATGA	0.557													26	28					0	0	1	0	0	A	24454689	G	A	24454689	2	1	81	1	0	0	0	0	0	0	0	1	7717	1079	38	1		1	IL22RA1	1	24454689	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	253060	24454689	224795932	259	3875											
GRHL3	57822	broad.mit.edu	37	1	24657946	24657946	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:24657946C>T	ENST00000361548.4	+	2	278	c.48C>T	c.(46-48)gaC>gaT	p.D16D	GRHL3_ENST00000350501.5_Silent_p.D16D|GRHL3_ENST00000342072.4_5'UTR|GRHL3_ENST00000356046.2_5'UTR|GRHL3_ENST00000530984.1_3'UTR|GRHL3_ENST00000236255.4_Silent_p.D21D	NM_198173.2	NP_937816.1	Q8TE85	GRHL3_HUMAN	grainyhead-like 3 (Drosophila)	16					regulation of actin cytoskeleton organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143)		TAAAGAACGACCCAGTCAACT	0.507													16	40					0	0	1	0	0	T	24657946	C	T	24657946	2	4	81	1	0	0	0	0	0	0	0	1	6806	506	18	2		2	GRHL3	1	24657946	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	203257	24657946	224592675	260	3876											
GRHL3	57822	broad.mit.edu	37	1	24664190	24664190	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:24664190G>T	ENST00000361548.4	+	6	981	c.751G>T	c.(751-753)Gcc>Tcc	p.A251S	GRHL3_ENST00000350501.5_Missense_Mutation_p.A251S|GRHL3_ENST00000342072.4_Missense_Mutation_p.A158S|GRHL3_ENST00000356046.2_Missense_Mutation_p.A205S|GRHL3_ENST00000236255.4_Missense_Mutation_p.A256S	NM_198173.2	NP_937816.1	Q8TE85	GRHL3_HUMAN	grainyhead-like 3 (Drosophila)	251					regulation of actin cytoskeleton organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143)		GTCACCCATGGCCTACCTCAA	0.597													3	25					0.004672	0.00489345	1	1	0	T	24664190	G	T	24664190	3	4	81	1	0	0	0	0	1	0	0	0	6806	1203	42	5	809	5	GRHL3	1	24664190	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	6244	24664190	224586431	261	3877											
GRHL3	57822	broad.mit.edu	37	1	24673118	24673118	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:24673118C>T	ENST00000361548.4	+	13	1760	c.1530C>T	c.(1528-1530)ggC>ggT	p.G510G	GRHL3_ENST00000350501.5_Silent_p.G510G|GRHL3_ENST00000342072.4_Silent_p.G417G|GRHL3_ENST00000356046.2_Silent_p.G464G|GRHL3_ENST00000236255.4_Silent_p.G515G	NM_198173.2	NP_937816.1	Q8TE85	GRHL3_HUMAN	grainyhead-like 3 (Drosophila)	510					regulation of actin cytoskeleton organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143)		CCAAGGAAGGCGACCTTCAGA	0.632													6	14					0	0	1	0	0	T	24673118	C	T	24673118	2	4	81	1	0	0	0	0	0	0	0	1	6806	755	27	1		1	GRHL3	1	24673118	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	8928	24673118	224577503	262	3878											
RCAN3	11123	broad.mit.edu	37	1	24840983	24840983	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:24840983G>A	ENST00000374395.4	+	2	434	c.121G>A	c.(121-123)Gat>Aat	p.D41N	RCAN3_ENST00000374393.2_Missense_Mutation_p.D41N|RCAN3_ENST00000436717.2_Missense_Mutation_p.D41N|RCAN3_ENST00000412742.2_Missense_Mutation_p.D41N|RCAN3_ENST00000538532.1_Missense_Mutation_p.D41N	NM_001251978.1|NM_001251979.1|NM_001251984.1	NP_001238907.1|NP_001238908.1|NP_001238913.1	Q9UKA8	RCAN3_HUMAN	RCAN family member 3	41					anatomical structure morphogenesis|calcium-mediated signaling		nucleotide binding|RNA binding|troponin I binding			central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)	7		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00473)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0427)|OV - Ovarian serous cystadenocarcinoma(117;1.13e-24)|Colorectal(126;6.09e-08)|COAD - Colon adenocarcinoma(152;3.33e-06)|GBM - Glioblastoma multiforme(114;0.000923)|BRCA - Breast invasive adenocarcinoma(304;0.0018)|KIRC - Kidney renal clear cell carcinoma(1967;0.00359)|STAD - Stomach adenocarcinoma(196;0.00493)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.14)		TGAGATGATGGATTTAAGTGA	0.438													4	60					0	0	1	0	0	A	24840983	G	A	24840983	3	1	81	1	0	0	0	0	1	0	0	0	13222	1174	41	2	123	2	RCAN3	1	24840983	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	167865	24840983	224409638	263	3879											
SRRM1	10250	broad.mit.edu	37	1	24978975	24978975	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:24978975C>A	ENST00000323848.9	+	7	1091	c.776C>A	c.(775-777)cCt>cAt	p.P259H	SRRM1_ENST00000537199.1_Missense_Mutation_p.P128H|SRRM1_ENST00000374389.4_Missense_Mutation_p.P259H|SRRM1_ENST00000447431.2_Missense_Mutation_p.P259H|SRRM1_ENST00000479034.1_3'UTR	NM_005839.3	NP_005830.2	Q8IYB3	SRRM1_HUMAN	serine/arginine repetitive matrix 1	259	Arg-rich.|Pro-rich.				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nuclear matrix|nuclear speck	DNA binding|protein binding|RNA binding			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	36		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)		CCTAAAGAACCTTCTCCGGAA	0.448													4	23					2.56e-06	2.92664e-06	1	1	0	A	24978975	C	A	24978975	3	1	81	1	0	0	0	0	1	0	0	0	15224	681	24	4	802	4	SRRM1	1	24978975	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	137992	24978975	224271646	264	3880											
SYF2	25949	broad.mit.edu	37	1	25549895	25549895	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:25549895C>T	ENST00000236273.4	-	7	619	c.594G>A	c.(592-594)cgG>cgA	p.R198R	SYF2_ENST00000354361.3_Silent_p.R156R	NM_015484.4	NP_056299.1	O95926	SYF2_HUMAN	SYF2 pre-mRNA-splicing factor	198						catalytic step 2 spliceosome				kidney(1)|large_intestine(1)|lung(4)	6		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.5e-26)|Colorectal(126;2.54e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000455)|STAD - Stomach adenocarcinoma(196;0.000766)|KIRC - Kidney renal clear cell carcinoma(1967;0.00145)|GBM - Glioblastoma multiforme(114;0.00443)|READ - Rectum adenocarcinoma(331;0.0936)|Lung(427;0.201)		AAGGACGTCTCCGGCTATATT	0.343													54	81					0	0	1	0	0	T	25549895	C	T	25549895	2	4	81	1	0	0	0	0	0	0	0	1	15494	842	30	2		2	SYF2	1	25549895	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	570920	25549895	223700726	265	3881											
C1orf63	57035	broad.mit.edu	37	1	25569197	25569197	+	Splice_Site	SNP	C	C	A	rs149585550		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:25569197C>A	ENST00000243189.7	-	5	1033		c.e5-1		C1orf63_ENST00000417642.2_Splice_Site	NM_020317.3	NP_064713.3	Q9BUV0	CA063_HUMAN	chromosome 1 open reading frame 63											breast(1)|large_intestine(1)|lung(4)|pancreas(1)	7		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;7.9e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;6.43e-07)|STAD - Stomach adenocarcinoma(196;0.000333)|BRCA - Breast invasive adenocarcinoma(304;0.000443)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.000932)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		CTACAGAATTCTGTAAAAGAA	0.338													4	55					0.184627	0.18622	1	1	0	A	25569197	C	A	25569197	5	1	81	1	0	0	0	0	0	0	1	0	2067	927	32	4	120	4	C1orf63	1	25569197	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	19302	25569197	223681424	266	3882											
C1orf63	57035	broad.mit.edu	37	1	25573046	25573046	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:25573046G>A	ENST00000243189.7	-	2	685	c.409C>T	c.(409-411)Cag>Tag	p.Q137*	C1orf63_ENST00000431849.2_Nonsense_Mutation_p.Q137*|C1orf63_ENST00000417642.2_Nonsense_Mutation_p.Q130*	NM_020317.3	NP_064713.3	Q9BUV0	CA063_HUMAN	chromosome 1 open reading frame 63	137	Arg-rich.									breast(1)|large_intestine(1)|lung(4)|pancreas(1)	7		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;7.9e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;6.43e-07)|STAD - Stomach adenocarcinoma(196;0.000333)|BRCA - Breast invasive adenocarcinoma(304;0.000443)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.000932)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		TAGTAGCGCTGTCCCCGCGCG	0.647													11	59					0	0	1	0	0	A	25573046	G	A	25573046	4	1	81	1	0	0	0	0	0	1	0	0	2067	1386	48	2	479	2	C1orf63	1	25573046	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	3849	25573046	223677575	267	3883											
C1orf63	57035	broad.mit.edu	37	1	25573443	25573443	+	Translation_Start_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:25573443G>A	ENST00000417642.2	-	0	223				C1orf63_ENST00000243189.7_Silent_p.Y4Y|C1orf63_ENST00000431849.2_Silent_p.Y4Y			Q9BUV0	CA063_HUMAN	chromosome 1 open reading frame 63											breast(1)|large_intestine(1)|lung(4)|pancreas(1)	7		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;7.9e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;6.43e-07)|STAD - Stomach adenocarcinoma(196;0.000333)|BRCA - Breast invasive adenocarcinoma(304;0.000443)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.000932)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		TGTCGTTCACGTAGTTGGACA	0.597													25	31					0	0	1	0	0	A	25573443	G	A	25573443	1	1	81	1	0	0	0	0	0	0	0	0	2067	1140	40	1		1	C1orf63	1	25573443	Translation_Start_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	397	25573443	223677178	268	3884											
RHD	6007	broad.mit.edu	37	1	25611236	25611236	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:25611236C>A	ENST00000328664.4	+	2	476	c.321C>A	c.(319-321)gtC>gtA	p.V107V	RHD_ENST00000423253.1_3'UTR|RHD_ENST00000423810.2_Silent_p.V107V|RHD_ENST00000357542.4_Silent_p.V107V|RHD_ENST00000568195.1_Silent_p.V107V|RHD_ENST00000342055.5_Silent_p.V107V|RHD_ENST00000454452.2_Silent_p.V107V|RHD_ENST00000417538.2_Silent_p.V107V	NM_001282867.1|NM_016124.3	NP_001269796.1|NP_057208	Q02161	RHD_HUMAN	Rh blood group, D antigen	107						integral to plasma membrane				breast(2)|large_intestine(4)|lung(7)|prostate(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;7.39e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;6.43e-07)|STAD - Stomach adenocarcinoma(196;0.000332)|BRCA - Breast invasive adenocarcinoma(304;0.000438)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.000908)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		GGAAGGTGGTCATCACACTGT	0.557													7	22					1	1	1	1	0	A	25611236	C	A	25611236	2	1	81	1	0	0	0	0	0	0	0	1	13377	813	29	5		5	RHD	1	25611236	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	37793	25611236	223639385	269	3885											
MAN1C1	57134	broad.mit.edu	37	1	26109097	26109097	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:26109097A>G	ENST00000374332.4	+	11	2002	c.1672A>G	c.(1672-1674)Aca>Gca	p.T558A	MAN1C1_ENST00000263979.3_Missense_Mutation_p.T378A|MAN1C1_ENST00000374329.1_Missense_Mutation_p.T329A	NM_020379.2	NP_065112.1	Q9NR34	MA1C1_HUMAN	mannosidase, alpha, class 1C, member 1	558					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(7)|pancreas(1)|prostate(1)|skin(2)	25		Colorectal(325;3.78e-05)|Lung NSC(340;0.000181)|all_lung(284;0.000245)|Renal(390;0.000714)|Ovarian(437;0.00159)|Breast(348;0.0156)|Myeloproliferative disorder(586;0.0257)|all_neural(195;0.0515)|Esophageal squamous(538;0.232)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0574)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.15e-07)|COAD - Colon adenocarcinoma(152;4.31e-06)|STAD - Stomach adenocarcinoma(196;0.00125)|BRCA - Breast invasive adenocarcinoma(304;0.00141)|KIRC - Kidney renal clear cell carcinoma(1967;0.00146)|GBM - Glioblastoma multiforme(114;0.0149)|READ - Rectum adenocarcinoma(331;0.0803)		ATACTGTCGGACAGAAGCCGG	0.542													14	20					0	0	1	0	0	G	26109097	A	G	26109097	3	3	81	1	0	0	0	0	1	0	0	0	9263	275	10	3	1714	3	MAN1C1	1	26109097	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	497861	26109097	223141524	270	3886											
PAQR7	164091	broad.mit.edu	37	1	26189404	26189404	+	Silent	SNP	C	C	T	rs146789461	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:26189404C>T	ENST00000374296.3	-	2	1593	c.927G>A	c.(925-927)acG>acA	p.T309T	RP1-125I3.2_ENST00000455431.1_RNA	NM_178422.5	NP_848509.1	Q86WK9	MPRA_HUMAN	progestin and adipoQ receptor family member VII	309					cell differentiation|multicellular organismal development|oogenesis	integral to membrane|plasma membrane	receptor activity|steroid binding			breast(3)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	9		Colorectal(325;3.46e-05)|Lung NSC(340;0.00038)|all_lung(284;0.00051)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.16e-25)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000724)|BRCA - Breast invasive adenocarcinoma(304;0.000965)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0136)|READ - Rectum adenocarcinoma(331;0.0649)		GAGGCCAGTGCGTGTGCAGAG	0.577													15	33					0	0	1	0	0	T	26189404	C	T	26189404	2	4	81	1	0	0	0	0	0	0	0	1	11487	755	27	1		1	PAQR7	1	26189404	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	80307	26189404	223061217	271	3887											
PAQR7	164091	broad.mit.edu	37	1	26189632	26189632	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:26189632C>T	ENST00000374296.3	-	2	1365	c.699G>A	c.(697-699)acG>acA	p.T233T	RP1-125I3.2_ENST00000455431.1_RNA	NM_178422.5	NP_848509.1	Q86WK9	MPRA_HUMAN	progestin and adipoQ receptor family member VII	233					cell differentiation|multicellular organismal development|oogenesis	integral to membrane|plasma membrane	receptor activity|steroid binding			breast(3)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	9		Colorectal(325;3.46e-05)|Lung NSC(340;0.00038)|all_lung(284;0.00051)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.16e-25)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000724)|BRCA - Breast invasive adenocarcinoma(304;0.000965)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0136)|READ - Rectum adenocarcinoma(331;0.0649)		CTGGATCATCCGTGGTGGGGT	0.597													22	25					0	0	1	0	0	T	26189632	C	T	26189632	2	4	81	1	0	0	0	0	0	0	0	1	11487	639	23	1		1	PAQR7	1	26189632	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	228	26189632	223060989	272	3888											
PAQR7	164091	broad.mit.edu	37	1	26190160	26190160	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:26190160G>A	ENST00000374296.3	-	2	837	c.171C>T	c.(169-171)acC>acT	p.T57T		NM_178422.5	NP_848509.1	Q86WK9	MPRA_HUMAN	progestin and adipoQ receptor family member VII	57					cell differentiation|multicellular organismal development|oogenesis	integral to membrane|plasma membrane	receptor activity|steroid binding			breast(3)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	9		Colorectal(325;3.46e-05)|Lung NSC(340;0.00038)|all_lung(284;0.00051)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.16e-25)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000724)|BRCA - Breast invasive adenocarcinoma(304;0.000965)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0136)|READ - Rectum adenocarcinoma(331;0.0649)		AGAAGCGCCAGGTCTGATGCA	0.642													17	37					0	0	1	0	0	A	26190160	G	A	26190160	2	1	81	1	0	0	0	0	0	0	0	1	11487	987	35	2		2	PAQR7	1	26190160	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	528	26190160	223060461	273	3889											
STMN1	3925	broad.mit.edu	37	1	26227579	26227579	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:26227579C>A	ENST00000399728.1	-	5	742		c.e5-1		STMN1_ENST00000374291.1_Splice_Site|STMN1_ENST00000465604.1_Splice_Site|STMN1_ENST00000455785.2_Splice_Site|STMN1_ENST00000357865.2_Splice_Site|STMN1_ENST00000426559.2_Intron	NM_203401.1	NP_981946.1	P16949	STMN1_HUMAN	stathmin 1						cell differentiation|intracellular signal transduction|microtubule depolymerization|mitotic spindle organization|nervous system development|response to virus	cytoplasm|microtubule	signal transducer activity|tubulin binding			breast(2)|large_intestine(2)|skin(2)	6		Colorectal(325;3.46e-05)|Lung NSC(340;0.000163)|all_lung(284;0.000234)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.85e-25)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.013)|READ - Rectum adenocarcinoma(331;0.0649)		TGTGCTTATCCTGTAAAGGAA	0.443													13	105					1.05317e-09	1.27674e-09	1	1	0	A	26227579	C	A	26227579	5	1	81	1	0	0	0	0	0	0	1	0	15364	695	24	4	226	4	STMN1	1	26227579	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	37419	26227579	223023042	274	3890											
PAFAH2	5051	broad.mit.edu	37	1	26310982	26310982	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:26310982G>A	ENST00000374282.3	-	5	558	c.379C>T	c.(379-381)Cgt>Tgt	p.R127C	PAFAH2_ENST00000374284.1_Missense_Mutation_p.R127C|PAFAH2_ENST00000493892.1_5'UTR	NM_000437.3	NP_000428.2	Q99487	PAFA2_HUMAN	platelet-activating factor acetylhydrolase 2, 40kDa	127					lipid catabolic process	cytoplasm	1-alkyl-2-acetylglycerophosphocholine esterase activity|phospholipid binding			NS(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(2)|urinary_tract(1)	9		Colorectal(325;3.47e-05)|Lung NSC(340;6.23e-05)|all_lung(284;9.48e-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;3.84e-25)|Colorectal(126;3.57e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00155)|GBM - Glioblastoma multiforme(114;0.00717)|READ - Rectum adenocarcinoma(331;0.0649)		ACAAAGCCACGTGAGGCCAGC	0.517													9	9					0	0	1	0	0	A	26310982	G	A	26310982	3	1	81	1	0	0	0	0	1	0	0	0	11434	1145	40	1	827	1	PAFAH2	1	26310982	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	83403	26310982	222939639	275	3891											
EXTL1	2134	broad.mit.edu	37	1	26349472	26349472	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:26349472G>A	ENST00000374280.3	+	1	1202	c.335G>A	c.(334-336)cGc>cAc	p.R112H		NM_004455.2	NP_004446.2	Q92935	EXTL1_HUMAN	exostosin-like glycosyltransferase 1	112					skeletal system development	integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|stomach(1)|urinary_tract(1)	23		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;6.44e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00594)|READ - Rectum adenocarcinoma(331;0.0649)		GAGACTCATCGCAGGATCCTG	0.572													25	36					0	0	1	0	0	A	26349472	G	A	26349472	3	1	81	1	0	0	0	0	1	0	0	0	5353	1087	38	1	337	1	EXTL1	1	26349472	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	38490	26349472	222901149	276	3892											
EXTL1	2134	broad.mit.edu	37	1	26357053	26357053	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:26357053C>A	ENST00000374280.3	+	4	1935	c.1068C>A	c.(1066-1068)tcC>tcA	p.S356S	EXTL1_ENST00000484339.1_3'UTR	NM_004455.2	NP_004446.2	Q92935	EXTL1_HUMAN	exostosin-like glycosyltransferase 1	356					skeletal system development	integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|stomach(1)|urinary_tract(1)	23		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;6.44e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00594)|READ - Rectum adenocarcinoma(331;0.0649)		CCTACTTCTCCTCAGTGGAGA	0.597													8	65					0.000274275	0.000297259	1	1	0	A	26357053	C	A	26357053	2	1	81	1	0	0	0	0	0	0	0	1	5353	668	24	4		4	EXTL1	1	26357053	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	7581	26357053	222893568	277	3893											
TRIM63	84676	broad.mit.edu	37	1	26383727	26383727	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:26383727C>A	ENST00000374272.3	-	7	1084	c.946G>T	c.(946-948)Gca>Tca	p.A316S		NM_032588.3	NP_115977.2	Q969Q1	TRI63_HUMAN	tripartite motif containing 63, E3 ubiquitin protein ligase	316	COS.					cytoplasm|microtubule|nucleus	ligase activity|signal transducer activity|titin binding|zinc ion binding			kidney(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1)	5		Colorectal(325;3.46e-05)|Lung NSC(340;0.000154)|all_lung(284;0.00021)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;9.15e-26)|Colorectal(126;3.16e-08)|COAD - Colon adenocarcinoma(152;1.72e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000767)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)		AGGGCGTCTGCTATGTGCTCT	0.532													34	39					8.4185e-14	1.06458e-13	1	1	0	A	26383727	C	A	26383727	3	1	81	1	0	0	0	0	1	0	0	0	16599	797	28	4	127	4	TRIM63	1	26383727	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	26674	26383727	222866894	278	3894											
CNKSR1	10256	broad.mit.edu	37	1	26515348	26515348	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:26515348C>A	ENST00000531191.1	+	19	2009	c.1002C>A	c.(1000-1002)acC>acA	p.T334T	CNKSR1_ENST00000374253.5_Silent_p.T599T|CNKSR1_ENST00000361530.6_Silent_p.T592T			Q969H4	CNKR1_HUMAN	connector enhancer of kinase suppressor of Ras 1	599	Pro-rich.				Rho protein signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cell cortex|cell-cell junction	protein binding, bridging			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	28		Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649)		AGCCCCTGACCCAGGAACAGT	0.627													5	70					0.00116845	0.00124301	1	1	0	A	26515348	C	A	26515348	2	1	81	1	0	0	0	0	0	0	0	1	3629	610	22	5		5	CNKSR1	1	26515348	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	131621	26515348	222735273	279	3895											
UBXN11	91544	broad.mit.edu	37	1	26611954	26611954	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:26611954C>T	ENST00000436301.2	-	8	727	c.628G>A	c.(628-630)Gtg>Atg	p.V210M	UBXN11_ENST00000374217.2_Splice_Site|UBXN11_ENST00000357089.4_Splice_Site|UBXN11_ENST00000374221.3_Splice_Site|UBXN11_ENST00000314675.7_Splice_Site|UBXN11_ENST00000374223.1_Splice_Site|UBXN11_ENST00000535108.1_Missense_Mutation_p.V127M|UBXN11_ENST00000374222.1_Splice_Site			Q5T124	UBX11_HUMAN	UBX domain protein 11	285						cytoplasm|cytoskeleton				endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(3)	23						CAGCTTATCACCTTAAAGGGG	0.557											OREG0013265	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	12					0	0	1	0	0	T	26611954	C	T	26611954	3	4	81	1	0	0	0	0	1	0	0	0	16973	521	18	2	733	2	UBXN11	1	26611954	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	96606	26611954	222638667	280	3896											
AIM1L	55057	broad.mit.edu	37	1	26663841	26663841	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:26663841C>T	ENST00000527815.1	-	9	1101	c.1052G>A	c.(1051-1053)cGg>cAg	p.R351Q	AIM1L_ENST00000308182.5_Missense_Mutation_p.R180Q|AIM1L_ENST00000522993.1_5'UTR	NM_001039775.3	NP_001034864.2	Q8N1P7	AIM1L_HUMAN	absent in melanoma 1-like	180	Beta/gamma crystallin 'Greek key' 8.						sugar binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|pancreas(1)|skin(2)	12		all_cancers(24;4.67e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.51e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000792)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.00858)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.165)|LUSC - Lung squamous cell carcinoma(448;0.239)		CTGGTGGCCCCGGAAGCCCTC	0.602													20	26					0	0	1	0	0	T	26663841	C	T	26663841	3	4	81	1	0	0	0	0	1	0	0	0	428	652	23	1	1355	1	AIM1L	1	26663841	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	51887	26663841	222586780	281	3897											
LIN28A	79727	broad.mit.edu	37	1	26751871	26751871	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:26751871G>T	ENST00000326279.6	+	3	420	c.306G>T	c.(304-306)aaG>aaT	p.K102N	LIN28A_ENST00000254231.4_Missense_Mutation_p.K102N	NM_024674.4	NP_078950.1	Q9H9Z2	LN28A_HUMAN	lin-28 homolog A (C. elegans)	102	CSD.				miRNA catabolic process|pre-miRNA processing|regulation of transcription, DNA-dependent|RNA 3'-end processing|stem cell maintenance	cytoplasmic mRNA processing body|nucleolus|stress granule	DNA binding|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)	8						AGTCAGCCAAGGGTCTGGAAT	0.517													9	105					4.68919e-08	5.54405e-08	1	1	0	T	26751871	G	T	26751871	3	4	81	1	0	0	0	0	1	0	0	0	8846	991	35	4	316	4	LIN28A	1	26751871	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	88030	26751871	222498750	282	3898											
RPS6KA1	6195	broad.mit.edu	37	1	26888068	26888068	+	Missense_Mutation	SNP	C	C	A	rs138370781		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:26888068C>A	ENST00000374168.2	+	17	1658	c.1504C>A	c.(1504-1506)Ctg>Atg	p.L502M	RPS6KA1_ENST00000531382.1_Missense_Mutation_p.L511M|RPS6KA1_ENST00000530003.1_Missense_Mutation_p.L486M|RPS6KA1_ENST00000374162.2_Missense_Mutation_p.L410M|RPS6KA1_ENST00000526792.1_Missense_Mutation_p.L410M|RPS6KA1_ENST00000374166.4_Missense_Mutation_p.L491M	NM_002953.3	NP_002944.2	Q15418	KS6A1_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 1	502	Protein kinase 2.				axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|caspase inhibitor activity|magnesium ion binding|protein binding|protein serine/threonine kinase activity			lung(1)	1		all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234)		GGACAAGATCCTGCGGCAGAA	0.557													10	84					1.76689e-08	2.10148e-08	1	1	0	A	26888068	C	A	26888068	3	1	81	1	0	0	0	0	1	0	0	0	13702	680	24	4	1709	4	RPS6KA1	1	26888068	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	136197	26888068	222362553	283	3899											
RPS6KA1	6195	broad.mit.edu	37	1	26900689	26900689	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:26900689G>A	ENST00000374168.2	+	22	2359	c.2205G>A	c.(2203-2205)ctG>ctA	p.L735L	RPS6KA1_ENST00000531382.1_Silent_p.L744L|RPS6KA1_ENST00000530003.1_Silent_p.L719L|RPS6KA1_ENST00000374162.2_Silent_p.L643L|RPS6KA1_ENST00000526792.1_Silent_p.L643L|RPS6KA1_ENST00000374166.4_Silent_p.L724L	NM_002953.3	NP_002944.2	Q15418	KS6A1_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 1	735					axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|caspase inhibitor activity|magnesium ion binding|protein binding|protein serine/threonine kinase activity			lung(1)	1		all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234)		CCACCACCCTGTGAGGCACCA	0.642													6	42					0	0	1	0	0	A	26900689	G	A	26900689	2	1	81	1	0	0	0	0	0	0	0	1	13702	1364	48	2		2	RPS6KA1	1	26900689	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	12621	26900689	222349932	284	3900											
ARID1A	8289	broad.mit.edu	37	1	27056262	27056262	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:27056262C>T	ENST00000324856.7	+	2	1629	c.1258C>T	c.(1258-1260)Cag>Tag	p.Q420*	ARID1A_ENST00000374152.2_Nonsense_Mutation_p.Q37*|ARID1A_ENST00000457599.2_Nonsense_Mutation_p.Q420*	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	420					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GTACCCAGGGCAGCCATACGG	0.627			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"								21	34					0	0	1	0	0	T	27056262	C	T	27056262	4	4	81	1	0	0	0	0	0	1	0	0	910	711	25	2	1264	2	ARID1A	1	27056262	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	155573	27056262	222194359	285	3901											
ARID1A	8289	broad.mit.edu	37	1	27059251	27059251	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:27059251C>A	ENST00000324856.7	+	4	2259	c.1888C>A	c.(1888-1890)Ctg>Atg	p.L630M	ARID1A_ENST00000374152.2_Missense_Mutation_p.L247M|ARID1A_ENST00000457599.2_Missense_Mutation_p.L630M	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	630					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		AGATATGAACCTGAGCCTTCA	0.473			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"								5	89					0.00116845	0.00124301	1	1	0	A	27059251	C	A	27059251	3	1	81	1	0	0	0	0	1	0	0	0	910	680	24	4	1902	4	ARID1A	1	27059251	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2989	27059251	222191370	286	3902											
ARID1A	8289	broad.mit.edu	37	1	27088761	27088761	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:27088761G>T	ENST00000324856.7	+	7	2741	c.2370G>T	c.(2368-2370)caG>caT	p.Q790H	ARID1A_ENST00000374152.2_Missense_Mutation_p.Q407H|ARID1A_ENST00000457599.2_Missense_Mutation_p.Q790H	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	790					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CCTACCAGCAGAACTCCATGG	0.582			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"								4	54					1	1	1	1	0	T	27088761	G	T	27088761	3	4	81	1	0	0	0	0	1	0	0	0	910	933	33	4	2396	4	ARID1A	1	27088761	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	29510	27088761	222161860	287	3903											
ARID1A	8289	broad.mit.edu	37	1	27105658	27105658	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:27105658G>T	ENST00000324856.7	+	20	5640	c.5269G>T	c.(5269-5271)Gct>Tct	p.A1757S	ARID1A_ENST00000374152.2_Missense_Mutation_p.A1374S|ARID1A_ENST00000540690.1_Missense_Mutation_p.A85S|ARID1A_ENST00000457599.2_Missense_Mutation_p.A1540S	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1757					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GTCTAGTCCAGCTCCCATGGA	0.473			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"								42	69					1.96642e-18	2.55057e-18	1	1	0	T	27105658	G	T	27105658	3	4	81	1	0	0	0	0	1	0	0	0	910	971	34	4	5347	4	ARID1A	1	27105658	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	16897	27105658	222144963	288	3904											
ARID1A	8289	broad.mit.edu	37	1	27106327	27106327	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:27106327C>T	ENST00000324856.7	+	20	6309	c.5938C>T	c.(5938-5940)Cgc>Tgc	p.R1980C	ARID1A_ENST00000374152.2_Missense_Mutation_p.R1597C|ARID1A_ENST00000540690.1_Missense_Mutation_p.R308C|ARID1A_ENST00000457599.2_Missense_Mutation_p.R1763C	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1980					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		TCTTGCCAAGCGCTGCGTCTG	0.537			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"								31	55					0	0	1	0	0	T	27106327	C	T	27106327	3	4	81	1	0	0	0	0	1	0	0	0	910	768	27	1	6016	1	ARID1A	1	27106327	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	669	27106327	222144294	289	3905											
ARID1A	8289	broad.mit.edu	37	1	27106360	27106360	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:27106360C>A	ENST00000324856.7	+	20	6342	c.5971C>A	c.(5971-5973)Ctg>Atg	p.L1991M	ARID1A_ENST00000374152.2_Missense_Mutation_p.L1608M|ARID1A_ENST00000540690.1_Missense_Mutation_p.L319M|ARID1A_ENST00000457599.2_Missense_Mutation_p.L1774M	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1991					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CATTCGAAGCCTGTCATTTGT	0.552			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"								5	73					0.014758	0.0152304	1	1	0	A	27106360	C	A	27106360	3	1	81	1	0	0	0	0	1	0	0	0	910	680	24	4	6049	4	ARID1A	1	27106360	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	33	27106360	222144261	290	3906											
ZDHHC18	84243	broad.mit.edu	37	1	27177723	27177723	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:27177723G>A	ENST00000374142.4	+	6	1031		c.e6+1		ZDHHC18_ENST00000478902.1_Splice_Site	NM_032283.2	NP_115659.1	Q9NUE0	ZDH18_HUMAN	zinc finger, DHHC-type containing 18							integral to membrane	zinc ion binding			endometrium(1)|large_intestine(2)	3		all_cancers(24;5.82e-22)|all_epithelial(13;9.91e-20)|Colorectal(325;0.000147)|Breast(348;0.000706)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;5.71e-53)|Epithelial(14;4.73e-52)|OV - Ovarian serous cystadenocarcinoma(117;1.53e-29)|Colorectal(126;1.9e-09)|COAD - Colon adenocarcinoma(152;4.2e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000548)|STAD - Stomach adenocarcinoma(196;0.00065)|KIRC - Kidney renal clear cell carcinoma(1967;0.000779)|GBM - Glioblastoma multiforme(114;0.0265)|READ - Rectum adenocarcinoma(331;0.0455)|Lung(427;0.163)|LUSC - Lung squamous cell carcinoma(448;0.237)		TAATGAAGACGTGAGTAAACC	0.587													19	27					0	0	1	0	0	A	27177723	G	A	27177723	5	1	81	1	0	0	0	0	0	0	1	0	17666	1159	40	1	959	1	ZDHHC18	1	27177723	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	71363	27177723	222072898	291	3907											
SFN	2810	broad.mit.edu	37	1	27189909	27189909	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:27189909G>A	ENST00000339276.4	+	1	277	c.206G>A	c.(205-207)aGc>aAc	p.S69N		NM_006142.3	NP_006133.1	P31947	1433S_HUMAN	stratifin	69					DNA damage response, signal transduction resulting in induction of apoptosis|negative regulation of caspase activity|release of cytochrome c from mitochondria	cytoplasm|extracellular space|nucleus	protein domain specific binding|protein kinase C inhibitor activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(2)	9		all_cancers(24;1.23e-26)|all_epithelial(13;1.19e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;0.00017)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.1e-52)|Epithelial(14;2.31e-52)|OV - Ovarian serous cystadenocarcinoma(117;8.22e-30)|Colorectal(126;1.31e-09)|COAD - Colon adenocarcinoma(152;3.45e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000501)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)|GBM - Glioblastoma multiforme(114;0.0767)|Lung(427;0.215)		GAGCAGAAAAGCAACGAGGAG	0.627													24	40					0	0	1	0	0	A	27189909	G	A	27189909	3	1	81	1	0	0	0	0	1	0	0	0	14213	971	34	2	208	2	SFN	1	27189909	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	12186	27189909	222060712	292	3908											
SFN	2810	broad.mit.edu	37	1	27190385	27190385	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:27190385A>G	ENST00000339276.4	+	1	753	c.682A>G	c.(682-684)Aca>Gca	p.T228A		NM_006142.3	NP_006133.1	P31947	1433S_HUMAN	stratifin	228					DNA damage response, signal transduction resulting in induction of apoptosis|negative regulation of caspase activity|release of cytochrome c from mitochondria	cytoplasm|extracellular space|nucleus	protein domain specific binding|protein kinase C inhibitor activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(2)	9		all_cancers(24;1.23e-26)|all_epithelial(13;1.19e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;0.00017)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.1e-52)|Epithelial(14;2.31e-52)|OV - Ovarian serous cystadenocarcinoma(117;8.22e-30)|Colorectal(126;1.31e-09)|COAD - Colon adenocarcinoma(152;3.45e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000501)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)|GBM - Glioblastoma multiforme(114;0.0767)|Lung(427;0.215)		AGACAACCTGACACTGTGGAC	0.657													4	58					0	0	1	0	0	G	27190385	A	G	27190385	3	3	81	1	0	0	0	0	1	0	0	0	14213	275	10	3	684	3	SFN	1	27190385	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	476	27190385	222060236	293	3909											
GPN2	54707	broad.mit.edu	37	1	27206198	27206198	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:27206198C>A	ENST00000374135.4	-	5	1103	c.903G>T	c.(901-903)caG>caT	p.Q301H	GPN2_ENST00000374133.3_Missense_Mutation_p.Q122H	NM_018066.3	NP_060536.3	Q9H9Y4	GPN2_HUMAN	GPN-loop GTPase 2	301							GTP binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|urinary_tract(1)	9						GCTCCACTGACTGGTTCGAGG	0.587													8	12					1.58986e-06	1.82794e-06	1	1	0	A	27206198	C	A	27206198	3	1	81	1	0	0	0	0	1	0	0	0	6658	564	20	4	33	4	GPN2	1	27206198	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	15813	27206198	222044423	294	3910											
GPATCH3	63906	broad.mit.edu	37	1	27217689	27217689	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:27217689C>A	ENST00000361720.5	-	7	1413	c.1390G>T	c.(1390-1392)Ggg>Tgg	p.G464W		NM_022078.2	NP_071361.2	Q96I76	GPTC3_HUMAN	G patch domain containing 3	464						intracellular	nucleic acid binding			endometrium(2)|large_intestine(1)|lung(11)|skin(1)	15		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.97e-51)|OV - Ovarian serous cystadenocarcinoma(117;9.55e-30)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|STAD - Stomach adenocarcinoma(196;0.000595)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|READ - Rectum adenocarcinoma(331;0.0419)		TTCAGTTGCCCAAATGGCTGT	0.557													5	16					0.00116845	0.00124301	1	1	0	A	27217689	C	A	27217689	3	1	81	1	0	0	0	0	1	0	0	0	6632	594	21	5	191	5	GPATCH3	1	27217689	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	11491	27217689	222032932	295	3911											
GPATCH3	63906	broad.mit.edu	37	1	27223972	27223972	+	Silent	SNP	G	G	A	rs149060380		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:27223972G>A	ENST00000361720.5	-	2	719	c.696C>T	c.(694-696)taC>taT	p.Y232Y		NM_022078.2	NP_071361.2	Q96I76	GPTC3_HUMAN	G patch domain containing 3	232						intracellular	nucleic acid binding			endometrium(2)|large_intestine(1)|lung(11)|skin(1)	15		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.97e-51)|OV - Ovarian serous cystadenocarcinoma(117;9.55e-30)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|STAD - Stomach adenocarcinoma(196;0.000595)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|READ - Rectum adenocarcinoma(331;0.0419)		GCACATTGCCGTAGCGCCGGG	0.567													17	131					0	0	1	0	0	A	27223972	G	A	27223972	2	1	81	1	0	0	0	0	0	0	0	1	6632	1140	40	1		1	GPATCH3	1	27223972	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	6283	27223972	222026649	296	3912											
NUDC	10726	broad.mit.edu	37	1	27269155	27269155	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:27269155C>T	ENST00000321265.5	+	5	557	c.434C>T	c.(433-435)aCt>aTt	p.T145I		NM_006600.3	NP_006591.1	Q9Y266	NUDC_HUMAN	nudC nuclear distribution protein	145					cell proliferation|cytokinesis|mitotic prometaphase|multicellular organismal development	cytosol|microtubule|nucleoplasm	protein binding			cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|ovary(1)	8				UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;6.1e-51)|OV - Ovarian serous cystadenocarcinoma(117;2.87e-29)|Colorectal(126;5.74e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000281)|STAD - Stomach adenocarcinoma(196;0.000604)|KIRC - Kidney renal clear cell carcinoma(1967;0.000739)|READ - Rectum adenocarcinoma(331;0.0421)		AAGCAGGATACTGAGGAAGAT	0.532													25	39					0	0	1	0	0	T	27269155	C	T	27269155	3	4	81	1	0	0	0	0	1	0	0	0	10769	565	20	2	452	2	NUDC	1	27269155	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	45183	27269155	221981466	297	3913											
NUDC	10726	broad.mit.edu	37	1	27269425	27269425	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:27269425C>T	ENST00000321265.5	+	6	733	c.610C>T	c.(610-612)Cgg>Tgg	p.R204W		NM_006600.3	NP_006591.1	Q9Y266	NUDC_HUMAN	nudC nuclear distribution protein	204	CS.				cell proliferation|cytokinesis|mitotic prometaphase|multicellular organismal development	cytosol|microtubule|nucleoplasm	protein binding			cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|ovary(1)	8				UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;6.1e-51)|OV - Ovarian serous cystadenocarcinoma(117;2.87e-29)|Colorectal(126;5.74e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000281)|STAD - Stomach adenocarcinoma(196;0.000604)|KIRC - Kidney renal clear cell carcinoma(1967;0.000739)|READ - Rectum adenocarcinoma(331;0.0421)		GGACATCCAGCGGCGGCACCT	0.592													8	34					0	0	1	0	0	T	27269425	C	T	27269425	3	4	81	1	0	0	0	0	1	0	0	0	10769	759	27	1	632	1	NUDC	1	27269425	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	270	27269425	221981196	298	3914											
FAM46B	115572	broad.mit.edu	37	1	27333309	27333309	+	Missense_Mutation	SNP	C	C	T	rs142455633		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:27333309C>T	ENST00000289166.5	-	2	569	c.404G>A	c.(403-405)cGc>cAc	p.R135H		NM_052943.3	NP_443175.2	Q96A09	FA46B_HUMAN	family with sequence similarity 46, member B	135										breast(1)|central_nervous_system(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;7.71e-51)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-29)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|STAD - Stomach adenocarcinoma(196;0.00114)|READ - Rectum adenocarcinoma(331;0.0419)		TGCCTCACTGCGCAGGTCCAC	0.637													29	42					0	0	1	0	0	T	27333309	C	T	27333309	3	4	81	1	0	0	0	0	1	0	0	0	5602	768	27	1	877	1	FAM46B	1	27333309	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	63884	27333309	221917312	299	3915											
SLC9A1	6548	broad.mit.edu	37	1	27426801	27426801	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:27426801C>T	ENST00000263980.3	-	12	3020	c.2445G>A	c.(2443-2445)caG>caA	p.Q815Q	SLC9A1_ENST00000545949.1_Silent_p.Q476Q	NM_003047.4	NP_003038.2	P19634	SL9A1_HUMAN	solute carrier family 9, subfamily A (NHE1, cation proton antiporter 1), member 1	815					regulation of pH	integral to membrane	sodium:hydrogen antiporter activity			central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27				UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;2.19e-50)|OV - Ovarian serous cystadenocarcinoma(117;1.8e-29)|Colorectal(126;7.61e-09)|COAD - Colon adenocarcinoma(152;9.32e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000521)|KIRC - Kidney renal clear cell carcinoma(1967;0.00079)|STAD - Stomach adenocarcinoma(196;0.00125)|READ - Rectum adenocarcinoma(331;0.046)	Amiloride(DB00594)	CCTGGTGTTACTGCCCCTTGG	0.667													11	15					0	0	1	0	0	T	27426801	C	T	27426801	2	4	81	1	0	0	0	0	0	0	0	1	14764	564	20	2		2	SLC9A1	1	27426801	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	93492	27426801	221823820	300	3916											
SLC9A1	6548	broad.mit.edu	37	1	27426981	27426981	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:27426981G>A	ENST00000263980.3	-	12	2840	c.2265C>T	c.(2263-2265)gaC>gaT	p.D755D	SLC9A1_ENST00000545949.1_Silent_p.D416D	NM_003047.4	NP_003038.2	P19634	SL9A1_HUMAN	solute carrier family 9, subfamily A (NHE1, cation proton antiporter 1), member 1	755					regulation of pH	integral to membrane	sodium:hydrogen antiporter activity			central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27				UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;2.19e-50)|OV - Ovarian serous cystadenocarcinoma(117;1.8e-29)|Colorectal(126;7.61e-09)|COAD - Colon adenocarcinoma(152;9.32e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000521)|KIRC - Kidney renal clear cell carcinoma(1967;0.00079)|STAD - Stomach adenocarcinoma(196;0.00125)|READ - Rectum adenocarcinoma(331;0.046)	Amiloride(DB00594)	CGTCGTCCTCGTCCTCCTCAG	0.617													71	113					0	0	1	0	0	A	27426981	G	A	27426981	2	1	81	1	0	0	0	0	0	0	0	1	14764	1136	40	1		1	SLC9A1	1	27426981	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	180	27426981	221823640	301	3917											
WDTC1	23038	broad.mit.edu	37	1	27589652	27589652	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:27589652G>A	ENST00000319394.3	+	3	593	c.58G>A	c.(58-60)Gcc>Acc	p.A20T	WDTC1_ENST00000361771.3_Missense_Mutation_p.A20T	NM_001276252.1|NM_015023.3	NP_001263181.1|NP_055838.2	Q8N5D0	WDTC1_HUMAN	WD and tetratricopeptide repeats 1	20							protein binding			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|skin(1)	21		all_cancers(24;3.12e-19)|all_epithelial(13;4.18e-18)|Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.00257)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0443)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;1.02e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00201)|STAD - Stomach adenocarcinoma(196;0.00321)|READ - Rectum adenocarcinoma(331;0.0476)		GGAGCGGGGTGCCCTGAGCTT	0.483													23	38					0	0	1	0	0	A	27589652	G	A	27589652	3	1	81	1	0	0	0	0	1	0	0	0	17402	1319	46	2	64	2	WDTC1	1	27589652	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	162671	27589652	221660969	302	3918											
SYTL1	84958	broad.mit.edu	37	1	27674031	27674031	+	Missense_Mutation	SNP	C	C	T	rs150662670		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:27674031C>T	ENST00000543823.1	+	2	773	c.311C>T	c.(310-312)gCg>gTg	p.A104V	SYTL1_ENST00000318074.5_Missense_Mutation_p.A104V			Q8IYJ3	SYTL1_HUMAN	synaptotagmin-like 1	104					exocytosis|intracellular protein transport	extrinsic to plasma membrane|melanosome|soluble fraction	neurexin binding|Rab GTPase binding			NS(1)|large_intestine(4)|lung(5)|ovary(1)|urinary_tract(1)	12		Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.0115)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0908)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.5e-28)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.0013)|KIRC - Kidney renal clear cell carcinoma(1967;0.00158)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		CTTGTCCGAGCGTCTATGCGC	0.632													23	30					0	0	1	0	0	T	27674031	C	T	27674031	3	4	81	1	0	0	0	0	1	0	0	0	15539	768	27	1	317	1	SYTL1	1	27674031	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	84379	27674031	221576590	303	3919											
SYTL1	84958	broad.mit.edu	37	1	27675609	27675609	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:27675609T>C	ENST00000543823.1	+	5	960	c.498T>C	c.(496-498)gcT>gcC	p.A166A	SYTL1_ENST00000318074.5_Silent_p.A154A|SYTL1_ENST00000490170.1_3'UTR			Q8IYJ3	SYTL1_HUMAN	synaptotagmin-like 1	166					exocytosis|intracellular protein transport	extrinsic to plasma membrane|melanosome|soluble fraction	neurexin binding|Rab GTPase binding			NS(1)|large_intestine(4)|lung(5)|ovary(1)|urinary_tract(1)	12		Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.0115)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0908)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.5e-28)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.0013)|KIRC - Kidney renal clear cell carcinoma(1967;0.00158)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		CCCTAAAGGCTTCAGATCCTG	0.607													10	74					0	0	1	0	0	C	27675609	T	C	27675609	2	2	81	1	0	0	0	0	0	0	0	1	15539	1596	56	3		3	SYTL1	1	27675609	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	1578	27675609	221575012	304	3920											
AHDC1	27245	broad.mit.edu	37	1	27875328	27875328	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:27875328C>T	ENST00000374011.2	-	6	4267	c.3299G>A	c.(3298-3300)cGg>cAg	p.R1100Q	AHDC1_ENST00000247087.5_Missense_Mutation_p.R1100Q	NM_001029882.2	NP_001025053.1	Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	1100							DNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		CGCAAACTGCCGACAGTTCTC	0.627													16	25					0	0	1	0	0	T	27875328	C	T	27875328	3	4	81	1	0	0	0	0	1	0	0	0	409	652	23	1	1516	1	AHDC1	1	27875328	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	199719	27875328	221375293	305	3921											
AHDC1	27245	broad.mit.edu	37	1	27876321	27876321	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:27876321G>A	ENST00000374011.2	-	6	3274	c.2306C>T	c.(2305-2307)gCc>gTc	p.A769V	AHDC1_ENST00000247087.5_Missense_Mutation_p.A769V	NM_001029882.2	NP_001025053.1	Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	769	Gly-rich.						DNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		CTTATCCCCGGCCCACTCAGC	0.667													7	51					0	0	1	0	0	A	27876321	G	A	27876321	3	1	81	1	0	0	0	0	1	0	0	0	409	1203	42	2	2509	2	AHDC1	1	27876321	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	993	27876321	221374300	306	3922											
AHDC1	27245	broad.mit.edu	37	1	27876628	27876628	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:27876628G>A	ENST00000374011.2	-	6	2967	c.1999C>T	c.(1999-2001)Cgg>Tgg	p.R667W	AHDC1_ENST00000247087.5_Missense_Mutation_p.R667W	NM_001029882.2	NP_001025053.1	Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	667	Gly-rich.						DNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		CCCCCACGCCGCCGGAAGCCC	0.672													21	23					0	0	1	0	0	A	27876628	G	A	27876628	3	1	81	1	0	0	0	0	1	0	0	0	409	1086	38	1	2816	1	AHDC1	1	27876628	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	307	27876628	221373993	307	3923											
XKR8	55113	broad.mit.edu	37	1	28290024	28290024	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:28290024C>T	ENST00000373884.5	+	2	918	c.310C>T	c.(310-312)Cgg>Tgg	p.R104W		NM_018053.2	NP_060523.2	Q9H6D3	XKR8_HUMAN	XK, Kell blood group complex subunit-related family, member 8	104						integral to membrane				endometrium(1)|large_intestine(2)|lung(1)	4		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00588)|all_lung(284;0.00645)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;4.72e-24)|Colorectal(126;1.52e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00572)|READ - Rectum adenocarcinoma(331;0.0526)		GCAGGAGCTGCGGCAGGGGCT	0.607													13	34					0	0	1	0	0	T	28290024	C	T	28290024	3	4	81	1	0	0	0	0	1	0	0	0	17497	759	27	1	316	1	XKR8	1	28290024	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	413396	28290024	220960597	308	3924											
ATPIF1	93974	broad.mit.edu	37	1	28564459	28564459	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:28564459G>A	ENST00000335514.5	+	3	342	c.291G>A	c.(289-291)caG>caA	p.Q97Q	ATPIF1_ENST00000468425.2_Intron|ATPIF1_ENST00000465645.1_3'UTR|ATPIF1_ENST00000497986.1_3'UTR	NM_016311.4	NP_057395.1	Q9UII2	ATIF1_HUMAN	ATPase inhibitory factor 1	97					angiogenesis|generation of precursor metabolites and energy|negative regulation of endothelial cell proliferation|negative regulation of hydrolase activity|negative regulation of nucleotide metabolic process|protein homotetramerization	cell surface|mitochondrion	angiostatin binding|ATPase binding|ATPase inhibitor activity|calmodulin binding|protein homodimerization activity			lung(4)	4		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;4.76e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;2.36e-22)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|BRCA - Breast invasive adenocarcinoma(304;0.00574)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0649)		GCCATAAGCAGAAGATCAAAA	0.413													19	29					0	0	1	0	0	A	28564459	G	A	28564459	2	1	81	1	0	0	0	0	0	0	0	1	1201	933	33	2		2	ATPIF1	1	28564459	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	274435	28564459	220686162	309	3925											
SESN2	83667	broad.mit.edu	37	1	28599172	28599172	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:28599172G>A	ENST00000253063.3	+	5	939	c.618G>A	c.(616-618)tcG>tcA	p.S206S		NM_031459.4	NP_113647.1	P58004	SESN2_HUMAN	sestrin 2	206					cell cycle arrest	cytoplasm|nucleus				cervix(1)|endometrium(3)|large_intestine(5)|lung(7)|ovary(2)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	27		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;4.76e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;2.98e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|READ - Rectum adenocarcinoma(331;0.0649)		ACTGCCACTCGCTCTCCTCCT	0.642													38	47					0	0	1	0	0	A	28599172	G	A	28599172	2	1	81	1	0	0	0	0	0	0	0	1	14179	1074	38	1		1	SESN2	1	28599172	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	34713	28599172	220651449	310	3926											
MED18	54797	broad.mit.edu	37	1	28660946	28660946	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:28660946G>T	ENST00000373842.4	+	3	301	c.92G>T	c.(91-93)aGt>aTt	p.S31I	MED18_ENST00000398997.2_Missense_Mutation_p.S31I|MED18_ENST00000479574.1_3'UTR	NM_001127350.1|NM_017638.2	NP_001120822.1|NP_060108.2	Q9BUE0	MED18_HUMAN	mediator complex subunit 18	31					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex	identical protein binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7		Colorectal(325;0.000147)|Lung NSC(340;0.000818)|all_lung(284;0.000996)|Renal(390;0.00357)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|all_neural(195;0.0557)|Ovarian(437;0.113)		OV - Ovarian serous cystadenocarcinoma(117;2.36e-22)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0141)|READ - Rectum adenocarcinoma(331;0.0649)		TTAGATCACAGTTTGGAAAGC	0.418													17	164					1.33834e-09	1.61909e-09	1	1	0	T	28660946	G	T	28660946	3	4	81	1	0	0	0	0	1	0	0	0	9486	1029	36	4	98	4	MED18	1	28660946	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	61774	28660946	220589675	311	3927											
PHACTR4	65979	broad.mit.edu	37	1	28793148	28793148	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:28793148C>T	ENST00000373839.3	+	6	953	c.692C>T	c.(691-693)cCc>cTc	p.P231L	PHACTR4_ENST00000373836.3_Missense_Mutation_p.P241L|PHACTR4_ENST00000493669.1_3'UTR	NM_001048183.1	NP_001041648.1	Q8IZ21	PHAR4_HUMAN	phosphatase and actin regulator 4	231	Pro-rich.						actin binding|protein phosphatase inhibitor activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649)		TCCCCAGCACCCAGGACTCTG	0.577													11	17					0	0	1	0	0	T	28793148	C	T	28793148	3	4	81	1	0	0	0	0	1	0	0	0	11860	623	22	2	760	2	PHACTR4	1	28793148	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	132202	28793148	220457473	312	3928											
PHACTR4	65979	broad.mit.edu	37	1	28818246	28818246	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:28818246G>A	ENST00000373839.3	+	12	2224	c.1963G>A	c.(1963-1965)Gat>Aat	p.D655N	PHACTR4_ENST00000373836.3_Missense_Mutation_p.D665N|PHACTR4_ENST00000493669.1_3'UTR	NM_001048183.1	NP_001041648.1	Q8IZ21	PHAR4_HUMAN	phosphatase and actin regulator 4	655							actin binding|protein phosphatase inhibitor activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649)		AGATGCTCAAGATTATGACCG	0.468													32	46					0	0	1	0	0	A	28818246	G	A	28818246	3	1	81	1	0	0	0	0	1	0	0	0	11860	942	33	2	2055	2	PHACTR4	1	28818246	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	25098	28818246	220432375	313	3929											
OPRD1	4985	broad.mit.edu	37	1	29185541	29185541	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:29185541G>A	ENST00000234961.2	+	2	545	c.303G>A	c.(301-303)acG>acA	p.T101T		NM_000911.3	NP_000902.3	P41143	OPRD_HUMAN	opioid receptor, delta 1	101					immune response|protein import into nucleus, translocation	integral to plasma membrane	delta-opioid receptor activity|protein binding			breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		Colorectal(325;3.46e-05)|Lung NSC(340;0.000947)|all_lung(284;0.00131)|Renal(390;0.00758)|Breast(348;0.00765)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;1.29e-07)|COAD - Colon adenocarcinoma(152;7.51e-06)|STAD - Stomach adenocarcinoma(196;0.00306)|BRCA - Breast invasive adenocarcinoma(304;0.0241)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)	Butorphanol(DB00611)|Codeine(DB00318)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Loperamide(DB00836)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pimozide(DB01100)|Propoxyphene(DB00647)	CCACCAGCACGCTGCCTTTCC	0.517													39	46					0	0	1	0	0	A	29185541	G	A	29185541	2	1	81	1	0	0	0	0	0	0	0	1	10932	1074	38	1		1	OPRD1	1	29185541	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	367295	29185541	220065080	314	3930											
EPB41	2035	broad.mit.edu	37	1	29344862	29344862	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:29344862C>A	ENST00000343067.4	+	7	1159	c.1032C>A	c.(1030-1032)ctC>ctA	p.L344L	EPB41_ENST00000373800.3_Silent_p.L135L|EPB41_ENST00000347529.3_Silent_p.L309L|EPB41_ENST00000373798.1_Silent_p.L344L|EPB41_ENST00000398863.2_Silent_p.L344L|EPB41_ENST00000356093.2_Silent_p.L344L|EPB41_ENST00000349460.4_Silent_p.L135L|EPB41_ENST00000373797.1_Silent_p.L344L	NM_001166005.1	NP_001159477.1	P11171	41_HUMAN	erythrocyte membrane protein band 4.1 (elliptocytosis 1, RH-linked)	344	FERM.				blood circulation|cortical actin cytoskeleton organization|positive regulation of protein binding	extrinsic to membrane|Golgi apparatus|nucleus|plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	1-phosphatidylinositol binding|actin binding|spectrin binding|structural constituent of cytoskeleton			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(1)	14		Colorectal(325;3.46e-05)|Prostate(1639;0.000244)|Lung NSC(340;0.00328)|all_lung(284;0.00412)|Breast(348;0.00765)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;3.12e-07)|COAD - Colon adenocarcinoma(152;1.21e-05)|STAD - Stomach adenocarcinoma(196;0.00395)|KIRC - Kidney renal clear cell carcinoma(1967;0.0249)|BRCA - Breast invasive adenocarcinoma(304;0.0289)|READ - Rectum adenocarcinoma(331;0.0757)		ACCCAGAACTCCATGGCGTGG	0.453													10	107					0.000673444	0.000721718	1	1	0	A	29344862	C	A	29344862	2	1	81	1	0	0	0	0	0	0	0	1	5179	842	30	5		5	EPB41	1	29344862	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	159321	29344862	219905759	315	3931											
MECR	51102	broad.mit.edu	37	1	29528491	29528491	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:29528491C>A	ENST00000373791.3	-	6	864	c.492G>T	c.(490-492)gaG>gaT	p.E164D	MECR_ENST00000263702.6_Missense_Mutation_p.E240D	NM_001024732.1|NM_016011.2	NP_001019903|NP_057095.3	Q9BV79	MECR_HUMAN	mitochondrial trans-2-enoyl-CoA reductase	240					fatty acid biosynthetic process	mitochondrion	trans-2-enoyl-CoA reductase (NADPH) activity|zinc ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)	11		Colorectal(325;0.000389)|Breast(348;0.00765)|Lung NSC(340;0.0081)|all_lung(284;0.00914)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;3.39e-07)|COAD - Colon adenocarcinoma(152;2.04e-05)|STAD - Stomach adenocarcinoma(196;0.0195)|BRCA - Breast invasive adenocarcinoma(304;0.053)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.137)		TTCTTAGCTCCTCTTCTGTGA	0.493													22	293					4.59853e-10	5.59907e-10	1	1	0	A	29528491	C	A	29528491	3	1	81	1	0	0	0	0	1	0	0	0	9474	680	24	4	421	4	MECR	1	29528491	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	183629	29528491	219722130	316	3932											
PTPRU	10076	broad.mit.edu	37	1	29585240	29585240	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:29585240G>A	ENST00000356870.3	+	3	539	c.429G>A	c.(427-429)tgG>tgA	p.W143*	PTPRU_ENST00000428026.2_Nonsense_Mutation_p.W143*|PTPRU_ENST00000460170.2_Nonsense_Mutation_p.W143*|PTPRU_ENST00000323874.8_Nonsense_Mutation_p.W143*|PTPRU_ENST00000373779.3_Nonsense_Mutation_p.W143*|PTPRU_ENST00000345512.3_Nonsense_Mutation_p.W143*	NM_133177.3	NP_573438.3	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	143	MAM.				canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		GCCGTCAGTGGCACCAGGCTG	0.642													30	35					0	0	1	0	0	A	29585240	G	A	29585240	4	1	81	1	0	0	0	0	0	1	0	0	12865	1212	42	2	439	2	PTPRU	1	29585240	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	56749	29585240	219665381	317	3933											
PTPRU	10076	broad.mit.edu	37	1	29606579	29606579	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:29606579G>A	ENST00000356870.3	+	11	1904	c.1794G>A	c.(1792-1794)ccG>ccA	p.P598P	PTPRU_ENST00000428026.2_Silent_p.P598P|PTPRU_ENST00000460170.2_Silent_p.P598P|PTPRU_ENST00000415600.2_3'UTR|PTPRU_ENST00000323874.8_Silent_p.P598P|PTPRU_ENST00000373779.3_Silent_p.P598P|PTPRU_ENST00000345512.3_Silent_p.P598P	NM_133177.3	NP_573438.3	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	598	Fibronectin type-III 4.				canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		CCGACATGCCGTCACCCCTGG	0.647													17	27					0	0	1	0	0	A	29606579	G	A	29606579	2	1	81	1	0	0	0	0	0	0	0	1	12865	1132	40	1		1	PTPRU	1	29606579	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	21339	29606579	219644042	318	3934											
PTPRU	10076	broad.mit.edu	37	1	29644280	29644280	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:29644280G>A	ENST00000356870.3	+	26	3662	c.3552G>A	c.(3550-3552)ccG>ccA	p.P1184P	PTPRU_ENST00000428026.2_Silent_p.P1175P|PTPRU_ENST00000460170.2_Silent_p.P1184P|PTPRU_ENST00000323874.8_Silent_p.P1184P|PTPRU_ENST00000373779.3_Silent_p.P1178P|PTPRU_ENST00000345512.3_Silent_p.P1188P	NM_133177.3	NP_573438.3	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	1188	Tyrosine-protein phosphatase 2.				canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		CGGTCACCCCGCCGCTGGACG	0.672													22	21					0	0	1	0	0	A	29644280	G	A	29644280	2	1	81	1	0	0	0	0	0	0	0	1	12865	1074	38	1		1	PTPRU	1	29644280	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	37701	29644280	219606341	319	3935											
SDC3	9672	broad.mit.edu	37	1	31349520	31349520	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:31349520C>T	ENST00000336798.7	-	1	2067	c.575G>A	c.(574-576)aGc>aAc	p.S192N	SDC3_ENST00000339394.6_Missense_Mutation_p.S250N			O75056	SDC3_HUMAN	syndecan 3	250	Ser/Thr-rich (mucin-like).					integral to membrane	cytoskeletal protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Myeloproliferative disorder(586;0.0393)|Colorectal(325;0.0466)|all_neural(195;0.0966)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)		STAD - Stomach adenocarcinoma(196;0.0197)|READ - Rectum adenocarcinoma(331;0.0649)		GGTAGCTGTGCTGACCAGCCT	0.711													7	9					0	0	1	0	0	T	31349520	C	T	31349520	3	4	81	1	0	0	0	0	1	0	0	0	14007	797	28	2	591	2	SDC3	1	31349520	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1705240	31349520	217901101	320	3936											
PUM1	9698	broad.mit.edu	37	1	31454233	31454233	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:31454233G>A	ENST00000373747.3	-	8	1277	c.1178C>T	c.(1177-1179)gCg>gTg	p.A393V	PUM1_ENST00000373742.2_Missense_Mutation_p.A333V|PUM1_ENST00000426105.2_Missense_Mutation_p.A393V|PUM1_ENST00000373741.4_Missense_Mutation_p.A429V|PUM1_ENST00000423018.2_Missense_Mutation_p.A297V|PUM1_ENST00000440538.2_Missense_Mutation_p.A393V|PUM1_ENST00000257075.5_Missense_Mutation_p.A393V|PUM1_ENST00000424085.2_Missense_Mutation_p.A151V	NM_001020658.1	NP_001018494.1	Q14671	PUM1_HUMAN	pumilio RNA-binding family member 1	393	Ala-rich.				cellular membrane organization|post-Golgi vesicle-mediated transport|regulation of translation	cytosol	RNA binding			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(17)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48		Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681)		GACAGCAAGCGCATTAGGTCT	0.463													20	32					0	0	1	0	0	A	31454233	G	A	31454233	3	1	81	1	0	0	0	0	1	0	0	0	12877	1087	38	1	2448	1	PUM1	1	31454233	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	104713	31454233	217796388	321	3937											
PUM1	9698	broad.mit.edu	37	1	31467908	31467908	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:31467908C>A	ENST00000373747.3	-	6	979	c.880G>T	c.(880-882)Gat>Tat	p.D294Y	PUM1_ENST00000373742.2_Missense_Mutation_p.D234Y|PUM1_ENST00000426105.2_Missense_Mutation_p.D294Y|PUM1_ENST00000373741.4_Missense_Mutation_p.D330Y|PUM1_ENST00000423018.2_Missense_Mutation_p.D198Y|PUM1_ENST00000440538.2_Missense_Mutation_p.D294Y|PUM1_ENST00000257075.5_Missense_Mutation_p.D294Y|PUM1_ENST00000424085.2_Intron	NM_001020658.1	NP_001018494.1	Q14671	PUM1_HUMAN	pumilio RNA-binding family member 1	294					cellular membrane organization|post-Golgi vesicle-mediated transport|regulation of translation	cytosol	RNA binding			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(17)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48		Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681)		AACCTAAAATCTTTGACGTCT	0.373													12	146					0.0809354	0.0824135	1	1	0	A	31467908	C	A	31467908	3	1	81	1	0	0	0	0	1	0	0	0	12877	913	32	4	2754	4	PUM1	1	31467908	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	13675	31467908	217782713	322	3938											
SERINC2	347735	broad.mit.edu	37	1	31899543	31899543	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:31899543C>T	ENST00000373710.1	+	7	953	c.680C>T	c.(679-681)gCg>gTg	p.A227V	SERINC2_ENST00000536859.1_Missense_Mutation_p.A222V|SERINC2_ENST00000373709.3_Missense_Mutation_p.A218V|SERINC2_ENST00000491976.1_3'UTR|SERINC2_ENST00000536384.1_Missense_Mutation_p.A222V	NM_001199038.1	NP_001185967.1	Q96SA4	SERC2_HUMAN	serine incorporator 2	218						integral to membrane				cervix(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	12		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0629)|Breast(348;0.0707)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0541)|READ - Rectum adenocarcinoma(331;0.151)		CTGTCGATCGCGGCCGTGGCG	0.597													44	67					0	0	1	0	0	T	31899543	C	T	31899543	3	4	81	1	0	0	0	0	1	0	0	0	14134	768	27	1	675	1	SERINC2	1	31899543	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	431635	31899543	217351078	323	3939											
TINAGL1	64129	broad.mit.edu	37	1	32050780	32050780	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:32050780T>C	ENST00000271064.7	+	8	962	c.886T>C	c.(886-888)Tcg>Ccg	p.S296P	TINAGL1_ENST00000481165.1_3'UTR|TINAGL1_ENST00000457433.2_Missense_Mutation_p.S265P	NM_001204415.1|NM_022164.2	NP_001191344.1|NP_071447.1	Q9GZM7	TINAL_HUMAN	tubulointerstitial nephritis antigen-like 1	296					endosome transport|immune response|proteolysis	extracellular region	cysteine-type endopeptidase activity|extracellular matrix structural constituent|polysaccharide binding|scavenger receptor activity			breast(2)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(4)|prostate(1)|skin(3)|urinary_tract(1)	18		Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		STAD - Stomach adenocarcinoma(196;0.0526)|READ - Rectum adenocarcinoma(331;0.145)		CTACCCCTTCTCGGGCCGTGA	0.652													40	67					0	0	1	0	0	C	32050780	T	C	32050780	3	2	81	1	0	0	0	0	1	0	0	0	15982	1551	54	3	912	3	TINAGL1	1	32050780	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	151237	32050780	217199841	324	3940											
COL16A1	1307	broad.mit.edu	37	1	32119490	32119490	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:32119490C>T	ENST00000373672.3	-	69	5028	c.4512G>A	c.(4510-4512)cgG>cgA	p.R1504R	RP11-73M7.6_ENST00000609549.1_RNA|RP11-73M7.6_ENST00000609373.1_RNA|RP11-73M7.6_ENST00000609033.1_RNA|RP11-73M7.6_ENST00000607926.1_RNA|RP11-73M7.6_ENST00000609625.1_RNA|RP11-73M7.6_ENST00000608246.1_RNA|COL16A1_ENST00000271069.6_Silent_p.R1504R|RP11-73M7.6_ENST00000585660.1_RNA|RP11-73M7.6_ENST00000591592.1_RNA|RP11-73M7.6_ENST00000585413.1_RNA|RP11-73M7.6_ENST00000608888.1_RNA|RP11-73M7.6_ENST00000587445.1_RNA|COL16A1_ENST00000461217.1_5'UTR|RP11-73M7.6_ENST00000610216.1_RNA|RP11-73M7.6_ENST00000608332.1_RNA|RP11-73M7.6_ENST00000589462.1_RNA|RP11-73M7.6_ENST00000591929.1_RNA|RP11-73M7.6_ENST00000609338.1_RNA|RP11-73M7.6_ENST00000610043.1_RNA|RP11-73M7.6_ENST00000593188.1_RNA	NM_001856.3	NP_001847.3	Q07092	COGA1_HUMAN	collagen, type XVI, alpha 1	1504	Triple-helical region 1 (COL1) with 2 imperfections.				cell adhesion|female pregnancy|integrin-mediated signaling pathway	collagen type XVI	integrin binding|structural molecule activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		GCAAGCCCTGCCGTCCTTCTC	0.602													26	51					0	0	1	0	0	T	32119490	C	T	32119490	2	4	81	1	0	0	0	0	0	0	0	1	3696	726	26	2		2	COL16A1	1	32119490	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	68710	32119490	217131131	325	3941											
COL16A1	1307	broad.mit.edu	37	1	32127979	32127979	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:32127979C>T	ENST00000373672.3	-	58	4153	c.3637G>A	c.(3637-3639)Ggt>Agt	p.G1213S	COL16A1_ENST00000271069.6_Missense_Mutation_p.G1213S	NM_001856.3	NP_001847.3	Q07092	COGA1_HUMAN	collagen, type XVI, alpha 1	1213	Triple-helical region 2 (COL2) with 2 imperfections.				cell adhesion|female pregnancy|integrin-mediated signaling pathway	collagen type XVI	integrin binding|structural molecule activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		CCATCCAGACCGGCGGGGCCC	0.622													3	10					0	0	1	0	0	T	32127979	C	T	32127979	3	4	81	1	0	0	0	0	1	0	0	0	3696	652	23	1	1233	1	COL16A1	1	32127979	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	8489	32127979	217122642	326	3942											
COL16A1	1307	broad.mit.edu	37	1	32157670	32157670	+	Splice_Site	SNP	T	T	C	rs2228554		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:32157670T>C	ENST00000373672.3	-	17	1711		c.e17-2		COL16A1_ENST00000373668.3_Splice_Site|COL16A1_ENST00000271069.6_Splice_Site	NM_001856.3	NP_001847.3	Q07092	COGA1_HUMAN	collagen, type XVI, alpha 1						cell adhesion|female pregnancy|integrin-mediated signaling pathway	collagen type XVI	integrin binding|structural molecule activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		TTTCTGGCCCTGGGGAAGGAA	0.642													24	51					0	0	1	0	0	C	32157670	T	C	32157670	5	2	81	1	0	0	0	0	0	0	1	0	3696	1594	55	3	3841	3	COL16A1	1	32157670	Splice_Site	SNP	T	TCGA-DU-6392-01A-11D-1705-08	29691	32157670	217092951	327	3943											
BAI2	576	broad.mit.edu	37	1	32203081	32203081	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:32203081G>A	ENST00000373658.3	-	20	3269	c.2928C>T	c.(2926-2928)atC>atT	p.I976I	BAI2_ENST00000257070.4_Silent_p.I976I|BAI2_ENST00000398547.1_Silent_p.I909I|BAI2_ENST00000527361.1_Silent_p.I976I|BAI2_ENST00000440175.2_Silent_p.I618I|BAI2_ENST00000398542.1_Silent_p.I909I|BAI2_ENST00000373655.2_Silent_p.I976I|BAI2_ENST00000398538.1_Silent_p.I964I|BAI2_ENST00000398556.3_Silent_p.I924I	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	976					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		TGGATGCCAAGATGGACAGGC	0.617													19	37					0	0	1	0	0	A	32203081	G	A	32203081	2	1	81	1	0	0	0	0	0	0	0	1	1297	932	33	2		2	BAI2	1	32203081	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	45411	32203081	217047540	328	3944											
SPOCD1	90853	broad.mit.edu	37	1	32259438	32259438	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:32259438T>C	ENST00000360482.2	-	12	2573	c.2444A>G	c.(2443-2445)aAt>aGt	p.N815S	SPOCD1_ENST00000533231.1_Missense_Mutation_p.N815S|SPOCD1_ENST00000257100.3_Missense_Mutation_p.N308S|SPOCD1_ENST00000373648.2_3'UTR	NM_144569.4	NP_653170.3	Q6ZMY3	SPOC1_HUMAN	SPOC domain containing 1	815					transcription, DNA-dependent					NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	37		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)		STAD - Stomach adenocarcinoma(196;0.18)		CTGGAAGATATTGTCCCCGCA	0.572													75	111					0	0	1	0	0	C	32259438	T	C	32259438	3	2	81	1	0	0	0	0	1	0	0	0	15134	1493	52	3	1226	3	SPOCD1	1	32259438	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	56357	32259438	216991183	329	3945											
SPOCD1	90853	broad.mit.edu	37	1	32279930	32279930	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:32279930C>A	ENST00000360482.2	-	2	1134	c.1005G>T	c.(1003-1005)caG>caT	p.Q335H	SPOCD1_ENST00000533231.1_Missense_Mutation_p.Q335H|SPOCD1_ENST00000257100.3_Intron|SPOCD1_ENST00000373648.2_Missense_Mutation_p.Q335H	NM_144569.4	NP_653170.3	Q6ZMY3	SPOC1_HUMAN	SPOC domain containing 1	335					transcription, DNA-dependent					NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	37		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)		STAD - Stomach adenocarcinoma(196;0.18)		CTGCAGAGGCCTGTGCTGACG	0.657													3	16					0.004672	0.00489345	1	1	0	A	32279930	C	A	32279930	3	1	81	1	0	0	0	0	1	0	0	0	15134	680	24	4	2705	4	SPOCD1	1	32279930	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	20492	32279930	216970691	330	3946											
EIF3I	8668	broad.mit.edu	37	1	32688215	32688215	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:32688215C>T	ENST00000373586.1	+	2	152	c.80C>T	c.(79-81)aCt>aTt	p.T27I	EIF3I_ENST00000471486.1_3'UTR	NM_003757.2	NP_003748.1	Q13347	EIF3I_HUMAN	eukaryotic translation initiation factor 3, subunit I	27						cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212)				CTCCTCTTTACTGTGGCCAAG	0.587													22	33					0	0	1	0	0	T	32688215	C	T	32688215	3	4	81	1	0	0	0	0	1	0	0	0	5047	565	20	2	86	2	EIF3I	1	32688215	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	408285	32688215	216562406	331	3947											
FAM167B	84734	broad.mit.edu	37	1	32713256	32713256	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:32713256C>T	ENST00000373582.3	+	1	423	c.234C>T	c.(232-234)tcC>tcT	p.S78S		NM_032648.2	NP_116037.2	Q9BTA0	F167B_HUMAN	family with sequence similarity 167, member B	78										endometrium(1)|large_intestine(1)|lung(1)|ovary(2)	5						CAATGGACTCCGCCCTTGAGT	0.652													20	40					0	0	1	0	0	T	32713256	C	T	32713256	2	4	81	1	0	0	0	0	0	0	0	1	5514	639	23	1		1	FAM167B	1	32713256	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	25041	32713256	216537365	332	3948											
MARCKSL1	65108	broad.mit.edu	37	1	32800436	32800436	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:32800436G>T	ENST00000329421.7	-	2	695	c.350C>A	c.(349-351)tCt>tAt	p.S117Y		NM_023009.6	NP_075385.1	P49006	MRP_HUMAN	MARCKS-like 1	117						plasma membrane	calmodulin binding			breast(1)|large_intestine(3)|lung(1)|ovary(1)	6		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				TGAGGAGGCAGAAGAATCACC	0.572													13	23					1.52009e-12	1.903e-12	1	1	0	T	32800436	G	T	32800436	3	4	81	1	0	0	0	0	1	0	0	0	9360	942	33	4	241	4	MARCKSL1	1	32800436	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	87180	32800436	216450185	333	3949											
BSDC1	55108	broad.mit.edu	37	1	32841937	32841937	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:32841937G>A	ENST00000341071.7	-	9	1144	c.1133C>T	c.(1132-1134)gCg>gTg	p.A378V	BSDC1_ENST00000455895.2_Missense_Mutation_p.A361V|BSDC1_ENST00000446293.2_Missense_Mutation_p.A378V|BSDC1_ENST00000449308.1_Missense_Mutation_p.A361V|BSDC1_ENST00000413080.1_Missense_Mutation_p.A300V|BSDC1_ENST00000526031.1_Missense_Mutation_p.A266V|BSDC1_ENST00000419121.2_Missense_Mutation_p.A305V			Q9NW68	BSDC1_HUMAN	BSD domain containing 1	361							protein binding			breast(1)|central_nervous_system(2)|kidney(1)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	17		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				GTCTGTGGGCGCCTCCTCCCT	0.602													68	99					0	0	1	0	0	A	32841937	G	A	32841937	3	1	81	1	0	0	0	0	1	0	0	0	1530	1087	38	1	222	1	BSDC1	1	32841937	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	41501	32841937	216408684	334	3950											
RBBP4	5928	broad.mit.edu	37	1	33133834	33133834	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:33133834G>T	ENST00000373493.5	+	4	478	c.319G>T	c.(319-321)Ggt>Tgt	p.G107C	RBBP4_ENST00000524393.1_Intron|RBBP4_ENST00000458695.2_Missense_Mutation_p.G72C|RBBP4_ENST00000373485.1_Missense_Mutation_p.G107C|RBBP4_ENST00000414241.3_Missense_Mutation_p.G106C|RBBP4_ENST00000544435.1_Intron	NM_001135255.1|NM_005610.2	NP_001128727.1|NP_005601.1	Q09028	RBBP4_HUMAN	retinoblastoma binding protein 4	107					cell cycle|CenH3-containing nucleosome assembly at centromere|DNA replication|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|ESC/E(Z) complex|NuRD complex|NURF complex|Sin3 complex	histone binding|histone deacetylase binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|ovary(1)|prostate(4)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)				AGAATTTGGAGGTTTTGGTTC	0.368													9	25					3.09899e-07	3.60815e-07	1	1	0	T	33133834	G	T	33133834	3	4	81	1	0	0	0	0	1	0	0	0	13153	1000	35	4	333	4	RBBP4	1	33133834	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	291897	33133834	216116787	335	3951											
RBBP4	5928	broad.mit.edu	37	1	33145306	33145306	+	Nonstop_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:33145306G>T	ENST00000373493.5	+	12	1437	c.1278G>T	c.(1276-1278)taG>taT	p.*426Y	RBBP4_ENST00000458695.2_Nonstop_Mutation_p.*391Y|RBBP4_ENST00000373485.1_Intron|RBBP4_ENST00000414241.3_Nonstop_Mutation_p.*425Y|RBBP4_ENST00000544435.1_Nonstop_Mutation_p.*174Y	NM_001135255.1|NM_005610.2	NP_001128727.1|NP_005601.1	Q09028	RBBP4_HUMAN	retinoblastoma binding protein 4	0					cell cycle|CenH3-containing nucleosome assembly at centromere|DNA replication|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|ESC/E(Z) complex|NuRD complex|NURF complex|Sin3 complex	histone binding|histone deacetylase binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|ovary(1)|prostate(4)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)				AAGGGTCCTAGATATGTCTTT	0.388													21	33					7.87624e-14	9.96214e-14	1	1	0	T	33145306	G	T	33145306	4	4	81	1	0	0	0	0	0	0	0	0	13153	937	33	4	1324	4	RBBP4	1	33145306	Nonstop_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	11472	33145306	216105315	336	3952											
KIAA1522	57648	broad.mit.edu	37	1	33235702	33235702	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:33235702C>T	ENST00000401073.2	+	6	992	c.922C>T	c.(922-924)Cgg>Tgg	p.R308W	KIAA1522_ENST00000373480.1_Missense_Mutation_p.R249W|KIAA1522_ENST00000373481.3_Missense_Mutation_p.R260W|KIAA1522_ENST00000294521.3_Intron	NM_020888.2	NP_065939.2	Q9P206	K1522_HUMAN	KIAA1522	249										breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				CTTTGTTGGCCGGTCCACGGG	0.687													23	44					0	0	1	0	0	T	33235702	C	T	33235702	3	4	81	1	0	0	0	0	1	0	0	0	8280	643	23	1	944	1	KIAA1522	1	33235702	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	90396	33235702	216014919	337	3953											
KIAA1522	57648	broad.mit.edu	37	1	33236827	33236827	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:33236827G>T	ENST00000401073.2	+	6	2117	c.2047G>T	c.(2047-2049)Gct>Tct	p.A683S	KIAA1522_ENST00000373480.1_Missense_Mutation_p.A624S|KIAA1522_ENST00000373481.3_Missense_Mutation_p.A635S|KIAA1522_ENST00000294521.3_Intron	NM_020888.2	NP_065939.2	Q9P206	K1522_HUMAN	KIAA1522	624	Pro-rich.									breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				CCCTAACCCAGCTGCCCCTGC	0.632													21	44					8.04996e-18	1.041e-17	1	1	0	T	33236827	G	T	33236827	3	4	81	1	0	0	0	0	1	0	0	0	8280	971	34	4	2069	4	KIAA1522	1	33236827	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1125	33236827	216013794	338	3954											
KIAA1522	57648	broad.mit.edu	37	1	33237550	33237550	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:33237550C>T	ENST00000401073.2	+	6	2840	c.2770C>T	c.(2770-2772)Cct>Tct	p.P924S	KIAA1522_ENST00000373480.1_Missense_Mutation_p.P865S|KIAA1522_ENST00000373481.3_Missense_Mutation_p.P876S|KIAA1522_ENST00000294521.3_Intron	NM_020888.2	NP_065939.2	Q9P206	K1522_HUMAN	KIAA1522	865	Pro-rich.									breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				CAGCCCAGTGCCTGCCCCCTC	0.706													4	7					0	0	1	0	0	T	33237550	C	T	33237550	3	4	81	1	0	0	0	0	1	0	0	0	8280	739	26	2	2792	2	KIAA1522	1	33237550	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	723	33237550	216013071	339	3955											
YARS	8565	broad.mit.edu	37	1	33246731	33246731	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:33246731C>T	ENST00000373477.4	-	10	1966	c.1058G>A	c.(1057-1059)gGc>gAc	p.G353D	YARS_ENST00000469100.1_5'UTR	NM_003680.3	NP_003671.1	P54577	SYYC_HUMAN	tyrosyl-tRNA synthetase	353					apoptosis|tyrosyl-tRNA aminoacylation	cytosol|extracellular space|nucleus|soluble fraction	ATP binding|interleukin-8 receptor binding|signal transducer activity|tRNA binding|tyrosine-tRNA ligase activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|skin(2)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)			L-Tyrosine(DB00135)	CTTGGCAGGGCCTTTGGCCAT	0.512													34	56					0	0	1	0	0	T	33246731	C	T	33246731	3	4	81	1	0	0	0	0	1	0	0	0	17527	739	26	2	544	2	YARS	1	33246731	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	9181	33246731	216003890	340	3956											
S100PBP	64766	broad.mit.edu	37	1	33292324	33292324	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:33292324T>C	ENST00000373475.5	+	3	878	c.624T>C	c.(622-624)aaT>aaC	p.N208N	S100PBP_ENST00000373476.1_Silent_p.N208N|S100PBP_ENST00000398243.3_Silent_p.N208N|S100PBP_ENST00000356689.3_3'UTR	NM_022753.3	NP_073590.2	Q96BU1	S1PBP_HUMAN	S100P binding protein	208						nucleus	calcium-dependent protein binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|stomach(1)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				CTGCCTGGAATGGGCCCCAGC	0.443													8	84					0	0	1	0	0	C	33292324	T	C	33292324	2	2	81	1	0	0	0	0	0	0	0	1	13843	1461	51	3		3	S100PBP	1	33292324	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	45593	33292324	215958297	341	3957											
FNDC5	252995	broad.mit.edu	37	1	33333375	33333375	+	Missense_Mutation	SNP	C	C	T	rs138930492	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:33333375C>T	ENST00000373471.3	-	4	544	c.478G>A	c.(478-480)Gtg>Atg	p.V160M	FNDC5_ENST00000609187.1_Missense_Mutation_p.V85M|FNDC5_ENST00000496770.1_Missense_Mutation_p.V85M	NM_001171940.1|NM_153756.2	NP_001165411.2|NP_715637.2	Q8NAU1	FNDC5_HUMAN	fibronectin type III domain containing 5	0						integral to membrane|peroxisomal membrane				breast(1)|large_intestine(1)|lung(2)|ovary(1)	5		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				AACAGGACCACGACGATGATC	0.552													6	18					0	0	1	0	0	T	33333375	C	T	33333375	3	4	81	1	0	0	0	0	1	0	0	0	6005	536	19	1	245	1	FNDC5	1	33333375	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	41051	33333375	215917246	342	3958											
HPCA	3208	broad.mit.edu	37	1	33354871	33354871	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:33354871C>T	ENST00000373467.3	+	2	474	c.372C>T	c.(370-372)atC>atT	p.I124I	HPCA_ENST00000480118.1_3'UTR	NM_002143.2	NP_002134.2	P84074	HPCA_HUMAN	hippocalcin	124	EF-hand 3.						actin binding|calcium ion binding			breast(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	9		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)				TGCTGGAGATCGTGCAGGTGG	0.642													9	25					0	0	1	0	0	T	33354871	C	T	33354871	2	4	81	1	0	0	0	0	0	0	0	1	7370	874	31	1		1	HPCA	1	33354871	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	21496	33354871	215895750	343	3959											
TMEM54	113452	broad.mit.edu	37	1	33360916	33360916	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:33360916C>T	ENST00000373463.3	-	5	703	c.584G>A	c.(583-585)aGc>aAc	p.S195N	TMEM54_ENST00000329151.5_Missense_Mutation_p.S142N|TMEM54_ENST00000475208.1_5'UTR	NM_033504.2	NP_277039.1	Q969K7	TMM54_HUMAN	transmembrane protein 54	195						integral to membrane				endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|urinary_tract(1)	6		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				CATGTGGTGGCTGCTTTTCCC	0.627													7	13					0	0	1	0	0	T	33360916	C	T	33360916	3	4	81	1	0	0	0	0	1	0	0	0	16240	797	28	2	92	2	TMEM54	1	33360916	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	6045	33360916	215889705	344	3960											
ADC	113451	broad.mit.edu	37	1	33549655	33549655	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:33549655T>C	ENST00000294517.6	+	5	793	c.206T>C	c.(205-207)gTc>gCc	p.V69A	ADC_ENST00000373440.1_Missense_Mutation_p.V69A|ADC_ENST00000484656.1_3'UTR|ADC_ENST00000398167.1_Missense_Mutation_p.V69A|ADC_ENST00000373441.1_Missense_Mutation_p.V69A|ADC_ENST00000373443.3_Missense_Mutation_p.V69A|ADC_ENST00000358680.3_Missense_Mutation_p.V69A	NM_052998.2	NP_443724.1	Q96A70	ADC_HUMAN	arginine decarboxylase	69					polyamine biosynthetic process|spermatogenesis	cytosol	arginine decarboxylase activity			NS(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(2)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)			L-Arginine(DB00125)|Pyridoxal Phosphate(DB00114)	TTTTATGCTGTCAAGTGCAAC	0.592													6	59					0	0	1	0	0	C	33549655	T	C	33549655	3	2	81	1	0	0	0	0	1	0	0	0	286	1667	58	3	212	3	ADC	1	33549655	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	188739	33549655	215700966	345	3961											
TRIM62	55223	broad.mit.edu	37	1	33612935	33612935	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:33612935T>C	ENST00000291416.5	-	5	1504	c.1271A>G	c.(1270-1272)cAa>cGa	p.Q424R	TRIM62_ENST00000543586.1_Missense_Mutation_p.Q303R	NM_018207.2	NP_060677.2	Q9BVG3	TRI62_HUMAN	tripartite motif containing 62	424	B30.2/SPRY.					intracellular	zinc ion binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0393)				GAGCAAGCCTTGGTCATAGTC	0.567													34	44					0	0	1	0	0	C	33612935	T	C	33612935	3	2	81	1	0	0	0	0	1	0	0	0	16598	1812	63	3	160	3	TRIM62	1	33612935	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	63280	33612935	215637686	346	3962											
TRIM62	55223	broad.mit.edu	37	1	33646764	33646764	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:33646764C>T	ENST00000291416.5	-	1	503	c.270G>A	c.(268-270)gcG>gcA	p.A90A	TRIM62_ENST00000485148.1_5'UTR	NM_018207.2	NP_060677.2	Q9BVG3	TRI62_HUMAN	tripartite motif containing 62	90						intracellular	zinc ion binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0393)				GGCAGGGTCGCGCGGCGCGGC	0.687													4	5					0	0	1	0	0	T	33646764	C	T	33646764	2	4	81	1	0	0	0	0	0	0	0	1	16598	755	27	1		1	TRIM62	1	33646764	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	33829	33646764	215603857	347	3963											
PHC2	1912	broad.mit.edu	37	1	33799704	33799704	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:33799704G>A	ENST00000257118.5	-	9	1798	c.1745C>T	c.(1744-1746)gCg>gTg	p.A582V	PHC2_ENST00000373416.1_Missense_Mutation_p.A47V|PHC2_ENST00000373418.3_Missense_Mutation_p.A47V|PHC2_ENST00000373422.3_Missense_Mutation_p.A188V|PHC2_ENST00000431992.1_Missense_Mutation_p.A553V|PHC2_ENST00000419414.2_Missense_Mutation_p.A583V|PHC2_ENST00000485928.1_Intron	NM_198040.2	NP_932157.1	Q8IXK0	PHC2_HUMAN	polyhomeotic homolog 2 (Drosophila)	582					multicellular organismal development	PcG protein complex	DNA binding|identical protein binding|zinc ion binding			autonomic_ganglia(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				GAAAGGCTCCGCCCCCTCCTG	0.438													25	30					0	0	1	0	0	A	33799704	G	A	33799704	3	1	81	1	0	0	0	0	1	0	0	0	11865	1087	38	1	855	1	PHC2	1	33799704	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	152940	33799704	215450917	348	3964											
ZSCAN20	7579	broad.mit.edu	37	1	33960018	33960018	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:33960018G>T	ENST00000361328.3	+	8	2227	c.2074G>T	c.(2074-2076)Gag>Tag	p.E692*		NM_145238.3	NP_660281	P17040	ZSC20_HUMAN	zinc finger and SCAN domain containing 20	692					viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				TTCTTCTGAAGAGGACTTAGA	0.463													8	83					7.48243e-07	8.64403e-07	1	1	0	T	33960018	G	T	33960018	4	4	81	1	0	0	0	0	0	1	0	0	18273	943	33	4	2100	4	ZSCAN20	1	33960018	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	160314	33960018	215290603	349	3965											
ZSCAN20	7579	broad.mit.edu	37	1	33960239	33960239	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:33960239C>A	ENST00000361328.3	+	8	2448	c.2295C>A	c.(2293-2295)ccC>ccA	p.P765P		NM_145238.3	NP_660281	P17040	ZSC20_HUMAN	zinc finger and SCAN domain containing 20	765					viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				GAGAGAAGCCCTATAAATGCC	0.433													32	65					2.48696e-23	3.27521e-23	1	1	0	A	33960239	C	A	33960239	2	1	81	1	0	0	0	0	0	0	0	1	18273	668	24	4		4	ZSCAN20	1	33960239	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	221	33960239	215290382	350	3966											
CSMD2	114784	broad.mit.edu	37	1	34042963	34042963	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:34042963G>A	ENST00000373381.4	-	49	7685	c.7509C>T	c.(7507-7509)agC>agT	p.S2503S		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2505	Sushi 14.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				AGATGGCCATGCTGTGTCCCA	0.637													22	45					0	0	1	0	0	A	34042963	G	A	34042963	2	1	81	1	0	0	0	0	0	0	0	1	3970	1310	46	2		2	CSMD2	1	34042963	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	82724	34042963	215207658	351	3967											
CSMD2	114784	broad.mit.edu	37	1	34052140	34052140	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:34052140A>G	ENST00000373381.4	-	46	7191	c.7015T>C	c.(7015-7017)Tac>Cac	p.Y2339H		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2341	Sushi 13.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				AACTGCAGGTAGGTTCCAAGT	0.478													24	33					0	0	1	0	0	G	34052140	A	G	34052140	3	3	81	1	0	0	0	0	1	0	0	0	3970	420	15	3	3534	3	CSMD2	1	34052140	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	9177	34052140	215198481	352	3968											
CSMD2	114784	broad.mit.edu	37	1	34052210	34052210	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:34052210G>A	ENST00000373381.4	-	46	7121	c.6945C>T	c.(6943-6945)atC>atT	p.I2315I		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2317	Sushi 13.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TGTAGCGTACGATGTCACCTG	0.483													12	23					0	0	1	0	0	A	34052210	G	A	34052210	2	1	81	1	0	0	0	0	0	0	0	1	3970	1048	37	1		1	CSMD2	1	34052210	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	70	34052210	215198411	353	3969											
CSMD2	114784	broad.mit.edu	37	1	34083159	34083159	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:34083159G>A	ENST00000373381.4	-	38	6062	c.5886C>T	c.(5884-5886)ggC>ggT	p.G1962G	CSMD2_ENST00000373380.1_Silent_p.G835G|CSMD2_ENST00000373377.1_Silent_p.G61G|CSMD2_ENST00000373388.2_Silent_p.G61G	NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1922	Sushi 11.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				AGTAGCGCTCGCCAGTCTTCA	0.572													11	23					0	0	1	0	0	A	34083159	G	A	34083159	2	1	81	1	0	0	0	0	0	0	0	1	3970	1074	38	1		1	CSMD2	1	34083159	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	30949	34083159	215167462	354	3970											
CSMD2	114784	broad.mit.edu	37	1	34090742	34090742	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:34090742G>A	ENST00000373381.4	-	34	5585	c.5409C>T	c.(5407-5409)tcC>tcT	p.S1803S	CSMD2_ENST00000373380.1_Silent_p.S676S|CSMD2_ENST00000373377.1_5'UTR|CSMD2_ENST00000373388.2_5'UTR	NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1763	CUB 11.					integral to membrane|plasma membrane	protein binding	p.S1763S(1)		NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GGGCATAGCCGGAGTTGCATT	0.647													20	35					0	0	1	0	0	A	34090742	G	A	34090742	2	1	81	1	0	0	0	0	0	0	0	1	3970	1103	39	1		1	CSMD2	1	34090742	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	7583	34090742	215159879	355	3971											
CSMD2	114784	broad.mit.edu	37	1	34180325	34180325	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:34180325G>A	ENST00000373381.4	-	21	3444	c.3268C>T	c.(3268-3270)Cgg>Tgg	p.R1090W		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1050	Sushi 6.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				AAGCCCTTCCGGATGCTGTAG	0.642													19	40					0	0	1	0	0	A	34180325	G	A	34180325	3	1	81	1	0	0	0	0	1	0	0	0	3970	1115	39	1	7511	1	CSMD2	1	34180325	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	89583	34180325	215070296	356	3972											
CSMD2	114784	broad.mit.edu	37	1	34209090	34209090	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:34209090C>T	ENST00000373381.4	-	14	2140	c.1964G>A	c.(1963-1965)cGc>cAc	p.R655H		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	615	CUB 4.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CAGGTGGATGCGGCTCTCAGG	0.612													28	26					0	0	1	0	0	T	34209090	C	T	34209090	3	4	81	1	0	0	0	0	1	0	0	0	3970	768	27	1	8843	1	CSMD2	1	34209090	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	28765	34209090	215041531	357	3973											
CSMD2	114784	broad.mit.edu	37	1	34238175	34238175	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:34238175C>T	ENST00000373381.4	-	13	2017	c.1841G>A	c.(1840-1842)tGc>tAc	p.C614Y	CSMD2_ENST00000338325.1_Missense_Mutation_p.C222Y	NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	574	CUB 4.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CTTACACACGCAGCCTGGCTT	0.582													5	61					0	0	1	0	0	T	34238175	C	T	34238175	3	4	81	1	0	0	0	0	1	0	0	0	3970	710	25	2	8970	2	CSMD2	1	34238175	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	29085	34238175	215012446	358	3974											
HMGB4	127540	broad.mit.edu	37	1	34330140	34330140	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:34330140G>A	ENST00000522796.1	+	4	2253	c.348G>A	c.(346-348)ccG>ccA	p.P116P	CSMD2_ENST00000373381.4_Intron|HMGB4_ENST00000425537.1_3'UTR|HMGB4_ENST00000519684.1_Silent_p.P116P			B2R4X7	B2R4X7_HUMAN	high mobility group box 4	116						nucleus	DNA binding	p.P116P(1)		NS(1)|breast(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				GGGAGAACCCGAACTGGTCGG	0.567													39	64					0	0	1	0	0	A	34330140	G	A	34330140	2	1	81	1	0	0	0	0	0	0	0	1	7269	1045	37	1		1	HMGB4	1	34330140	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	91965	34330140	214920481	359	3975											
C1orf94	84970	broad.mit.edu	37	1	34663184	34663184	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:34663184C>T	ENST00000488417.1	+	2	799	c.679C>T	c.(679-681)Cgc>Tgc	p.R227C	C1orf94_ENST00000373374.3_Missense_Mutation_p.R37C	NM_001134734.1	NP_001128206.1	Q6P1W5	CA094_HUMAN	chromosome 1 open reading frame 94	37							protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2)	32		Myeloproliferative disorder(586;0.0393)				GGACAGGGGCCGCATCCTAGG	0.542													9	32					0	0	1	0	0	T	34663184	C	T	34663184	3	4	81	1	0	0	0	0	1	0	0	0	2085	652	23	1	685	1	C1orf94	1	34663184	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	333044	34663184	214587437	360	3976											
C1orf94	84970	broad.mit.edu	37	1	34684349	34684349	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:34684349G>A	ENST00000488417.1	+	7	1904	c.1784G>A	c.(1783-1785)gGc>gAc	p.G595D	C1orf94_ENST00000373374.3_Missense_Mutation_p.G405D	NM_001134734.1	NP_001128206.1	Q6P1W5	CA094_HUMAN	chromosome 1 open reading frame 94	405							protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2)	32		Myeloproliferative disorder(586;0.0393)				AGTGGGAATGGCATAAACTTT	0.507													27	39					0	0	1	0	0	A	34684349	G	A	34684349	3	1	81	1	0	0	0	0	1	0	0	0	2085	1203	42	2	1810	2	C1orf94	1	34684349	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	21165	34684349	214566272	361	3977											
GJA4	2701	broad.mit.edu	37	1	35260154	35260154	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:35260154C>T	ENST00000342280.4	+	2	428	c.340C>T	c.(340-342)Cgg>Tgg	p.R114W		NM_002060.2	NP_002051.2	P35212	CXA4_HUMAN	gap junction protein, alpha 4, 37kDa	114					cell-cell junction assembly	integral to plasma membrane				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(4)|stomach(1)	14		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				GGGGGAGCTGCGGGCACTGCC	0.652													9	19					0	0	1	0	0	T	35260154	C	T	35260154	3	4	81	1	0	0	0	0	1	0	0	0	6445	759	27	1	342	1	GJA4	1	35260154	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	575805	35260154	213990467	362	3978											
DLGAP3	58512	broad.mit.edu	37	1	35370053	35370053	+	Missense_Mutation	SNP	C	C	T	rs141061512	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:35370053C>T	ENST00000373347.1	-	3	1200	c.932G>A	c.(931-933)cGc>cAc	p.R311H	DLGAP3_ENST00000235180.4_Missense_Mutation_p.R311H			O95886	DLGP3_HUMAN	discs, large (Drosophila) homolog-associated protein 3	311					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)				GGCAAGGCAGCGGCCTTCCGA	0.647													28	37					0	0	1	0	0	T	35370053	C	T	35370053	3	4	81	1	0	0	0	0	1	0	0	0	4589	768	27	1	2047	1	DLGAP3	1	35370053	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	109899	35370053	213880568	363	3979											
ZMYM6	9204	broad.mit.edu	37	1	35457900	35457900	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:35457900T>C	ENST00000357182.4	-	15	2308	c.2081A>G	c.(2080-2082)aAa>aGa	p.K694R	ZMYM6_ENST00000487874.1_Missense_Mutation_p.K694R|ZMYM6_ENST00000373340.2_Missense_Mutation_p.K694R|ZMYM6_ENST00000493328.1_5'UTR	NM_007167.3	NP_009098.3	O95789	ZMYM6_HUMAN	zinc finger, MYM-type 6	694					multicellular organismal development	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(10)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	44		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13)				TGTGACGGGTTTGCATGATAT	0.433													11	104					0	0	1	0	0	C	35457900	T	C	35457900	3	2	81	1	0	0	0	0	1	0	0	0	17762	1841	64	3	1904	3	ZMYM6	1	35457900	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	87847	35457900	213792721	364	3980											
ZMYM6	9204	broad.mit.edu	37	1	35457973	35457973	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:35457973C>A	ENST00000357182.4	-	15	2235	c.2008G>T	c.(2008-2010)Gat>Tat	p.D670Y	ZMYM6_ENST00000487874.1_Missense_Mutation_p.D670Y|ZMYM6_ENST00000373340.2_Missense_Mutation_p.D670Y|ZMYM6_ENST00000493328.1_5'UTR	NM_007167.3	NP_009098.3	O95789	ZMYM6_HUMAN	zinc finger, MYM-type 6	670					multicellular organismal development	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(10)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	44		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13)				TTCATAGCATCTTCCTGTGTA	0.373													31	45					4.15321e-07	4.83186e-07	1	1	0	A	35457973	C	A	35457973	3	1	81	1	0	0	0	0	1	0	0	0	17762	913	32	4	1977	4	ZMYM6	1	35457973	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	73	35457973	213792648	365	3981											
SFPQ	6421	broad.mit.edu	37	1	35650064	35650064	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:35650064C>T	ENST00000357214.5	-	10	2215	c.2117G>A	c.(2116-2118)cGa>cAa	p.R706Q		NM_005066.2	NP_005057.1	P23246	SFPQ_HUMAN	splicing factor proline/glutamine-rich	706					alternative nuclear mRNA splicing, via spliceosome|DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix|paraspeckles	DNA binding|nucleotide binding|protein binding|RNA binding		SFPQ/TFE3(6)	NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196)				CATCTAAAATCGGGGTTTTTT	0.413			T	TFE3	papillary renal cell								20	47					0	0	1	0	0	T	35650064	C	T	35650064	3	4	81	1	0	0	0	0	1	0	0	0	14214	884	31	1	10	1	SFPQ	1	35650064	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	192091	35650064	213600557	366	3982											
SFPQ	6421	broad.mit.edu	37	1	35654958	35654958	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:35654958C>T	ENST00000357214.5	-	5	1539	c.1441G>A	c.(1441-1443)Gcc>Acc	p.A481T		NM_005066.2	NP_005057.1	P23246	SFPQ_HUMAN	splicing factor proline/glutamine-rich	481					alternative nuclear mRNA splicing, via spliceosome|DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix|paraspeckles	DNA binding|nucleotide binding|protein binding|RNA binding		SFPQ/TFE3(6)	NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196)				CCATGCTGGGCAAAACGAGGA	0.393			T	TFE3	papillary renal cell								12	20					0	0	1	0	0	T	35654958	C	T	35654958	3	4	81	1	0	0	0	0	1	0	0	0	14214	710	25	2	706	2	SFPQ	1	35654958	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	4894	35654958	213595663	367	3983											
ZMYM4	9202	broad.mit.edu	37	1	35847203	35847203	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:35847203C>T	ENST00000314607.6	+	9	1493	c.1413C>T	c.(1411-1413)tgC>tgT	p.C471C	ZMYM4_ENST00000373297.2_Silent_p.C471C	NM_005095.2	NP_005086.2	Q5VZL5	ZMYM4_HUMAN	zinc finger, MYM-type 4	471					multicellular organismal development		DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2)	54		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GTGATGCCTGCTTCTCTAAGT	0.428													56	64					0	0	1	0	0	T	35847203	C	T	35847203	2	4	81	1	0	0	0	0	0	0	0	1	17760	805	28	2		2	ZMYM4	1	35847203	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	192245	35847203	213403418	368	3984											
ZMYM4	9202	broad.mit.edu	37	1	35857931	35857931	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:35857931G>T	ENST00000314607.6	+	16	2786	c.2706G>T	c.(2704-2706)gtG>gtT	p.V902V	ZMYM4_ENST00000373297.2_Silent_p.V813V	NM_005095.2	NP_005086.2	Q5VZL5	ZMYM4_HUMAN	zinc finger, MYM-type 4	902					multicellular organismal development		DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2)	54		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				AGCCTACAGTGAATTCTAACA	0.453													4	37					0.00909568	0.00944708	1	1	0	T	35857931	G	T	35857931	2	4	81	1	0	0	0	0	0	0	0	1	17760	1277	45	5		5	ZMYM4	1	35857931	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	10728	35857931	213392690	369	3985											
KIAA0319L	79932	broad.mit.edu	37	1	35921616	35921616	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:35921616G>A	ENST00000325722.3	-	10	1888	c.1654C>T	c.(1654-1656)Cag>Tag	p.Q552*	KIAA0319L_ENST00000485551.1_5'UTR	NM_024874.4	NP_079150.3	Q8IZA0	K319L_HUMAN	KIAA0319-like	552	PKD 3.					cytoplasmic vesicle part|integral to membrane	protein binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(12)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	34		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CCTCCTACCTGCATCTCCACC	0.483													12	285					0	0	1	0	0	A	35921616	G	A	35921616	4	1	81	1	0	0	0	0	0	1	0	0	8211	1328	46	2	1543	2	KIAA0319L	1	35921616	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	63685	35921616	213329005	370	3986											
KIAA0319L	79932	broad.mit.edu	37	1	35972362	35972362	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:35972362C>T	ENST00000325722.3	-	3	751	c.517G>A	c.(517-519)Gct>Act	p.A173T		NM_024874.4	NP_079150.3	Q8IZA0	K319L_HUMAN	KIAA0319-like	173						cytoplasmic vesicle part|integral to membrane	protein binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(12)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	34		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GAAGATACAGCAGGTCTGAGT	0.498													8	94					0	0	1	0	0	T	35972362	C	T	35972362	3	4	81	1	0	0	0	0	1	0	0	0	8211	710	25	2	2708	2	KIAA0319L	1	35972362	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	50746	35972362	213278259	371	3987											
NCDN	23154	broad.mit.edu	37	1	36026482	36026482	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:36026482C>A	ENST00000373243.2	+	3	1113	c.730C>A	c.(730-732)Ctg>Atg	p.L244M	NCDN_ENST00000373253.3_Missense_Mutation_p.L227M|NCDN_ENST00000356090.4_Missense_Mutation_p.L244M	NM_014284.2	NP_055099.1	Q9UBB6	NCDN_HUMAN	neurochondrin	244					neuron projection development	cytosol|dendrite|neuronal cell body				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|pancreas(1)|skin(2)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CTGCCAGCTGCTGCCCCTCTT	0.637													22	38					2.89027e-11	3.57291e-11	1	1	0	A	36026482	C	A	36026482	3	1	81	1	0	0	0	0	1	0	0	0	10261	796	28	4	740	4	NCDN	1	36026482	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	54120	36026482	213224139	372	3988											
NCDN	23154	broad.mit.edu	37	1	36028080	36028080	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:36028080C>T	ENST00000373243.2	+	4	1614	c.1231C>T	c.(1231-1233)Cgt>Tgt	p.R411C	NCDN_ENST00000373253.3_Missense_Mutation_p.R394C|NCDN_ENST00000356090.4_Missense_Mutation_p.R411C	NM_014284.2	NP_055099.1	Q9UBB6	NCDN_HUMAN	neurochondrin	411					neuron projection development	cytosol|dendrite|neuronal cell body		p.R394C(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|pancreas(1)|skin(2)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CTCATCCTTGCGTAAGGAGGT	0.622													22	33					0	0	1	0	0	T	36028080	C	T	36028080	3	4	81	1	0	0	0	0	1	0	0	0	10261	768	27	1	1245	1	NCDN	1	36028080	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1598	36028080	213222541	373	3989											
NCDN	23154	broad.mit.edu	37	1	36028226	36028226	+	Silent	SNP	C	C	T	rs146734510		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:36028226C>T	ENST00000373243.2	+	4	1760	c.1377C>T	c.(1375-1377)gaC>gaT	p.D459D	NCDN_ENST00000373253.3_Silent_p.D442D|NCDN_ENST00000356090.4_Silent_p.D459D	NM_014284.2	NP_055099.1	Q9UBB6	NCDN_HUMAN	neurochondrin	459					neuron projection development	cytosol|dendrite|neuronal cell body				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|pancreas(1)|skin(2)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GGCCAGGAGACGCTCTCCGGT	0.597													8	11					0	0	1	0	0	T	36028226	C	T	36028226	2	4	81	1	0	0	0	0	0	0	0	1	10261	535	19	1		1	NCDN	1	36028226	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	146	36028226	213222395	374	3990											
PSMB2	5690	broad.mit.edu	37	1	36102014	36102014	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:36102014C>A	ENST00000373237.3	-	2	522	c.111G>T	c.(109-111)aaG>aaT	p.K37N		NM_002794.4	NP_002785.1	P49721	PSB2_HUMAN	proteasome (prosome, macropain) subunit, beta type, 2	37					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex	threonine-type endopeptidase activity			endometrium(1)|large_intestine(2)	3		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)			Bortezomib(DB00188)	TTTCACTCATCTTAAACATCT	0.358													37	65					3.78316e-11	4.67573e-11	1	1	0	A	36102014	C	A	36102014	3	1	81	1	0	0	0	0	1	0	0	0	12726	912	32	4	514	4	PSMB2	1	36102014	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	73788	36102014	213148607	375	3991											
CLSPN	63967	broad.mit.edu	37	1	36205109	36205109	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:36205109C>A	ENST00000251195.5	-	19	3261	c.3165G>T	c.(3163-3165)gaG>gaT	p.E1055D	CLSPN_ENST00000520551.1_Missense_Mutation_p.E1002D|RP11-435D7.3_ENST00000373226.2_RNA|CLSPN_ENST00000373220.3_Missense_Mutation_p.E991D|CLSPN_ENST00000318121.3_Missense_Mutation_p.E1055D			Q9HAW4	CLSPN_HUMAN	claspin	1055					activation of protein kinase activity|cell cycle|cellular component disassembly involved in apoptosis|DNA repair|DNA replication|G2/M transition DNA damage checkpoint|mitotic cell cycle DNA replication checkpoint|peptidyl-serine phosphorylation	nucleoplasm	anaphase-promoting complex binding|DNA binding			NS(2)|breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CTGCCTCATCCTCCAGGTATT	0.398													8	90					0.00621372	0.00649472	1	1	0	A	36205109	C	A	36205109	3	1	81	1	0	0	0	0	1	0	0	0	3583	680	24	4	882	4	CLSPN	1	36205109	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	103095	36205109	213045512	376	3992											
CLSPN	63967	broad.mit.edu	37	1	36214109	36214109	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:36214109T>C	ENST00000251195.5	-	13	2465	c.2369A>G	c.(2368-2370)aAc>aGc	p.N790S	CLSPN_ENST00000520551.1_Missense_Mutation_p.N737S|CLSPN_ENST00000373220.3_Missense_Mutation_p.N726S|CLSPN_ENST00000318121.3_Missense_Mutation_p.N790S			Q9HAW4	CLSPN_HUMAN	claspin	790					activation of protein kinase activity|cell cycle|cellular component disassembly involved in apoptosis|DNA repair|DNA replication|G2/M transition DNA damage checkpoint|mitotic cell cycle DNA replication checkpoint|peptidyl-serine phosphorylation	nucleoplasm	anaphase-promoting complex binding|DNA binding			NS(2)|breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				TGTTTGTCTGTTGCAAGGCTG	0.488													11	80					0	0	1	0	0	C	36214109	T	C	36214109	3	2	81	1	0	0	0	0	1	0	0	0	3583	1725	60	3	1702	3	CLSPN	1	36214109	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	9000	36214109	213036512	377	3993											
ADPRHL2	54936	broad.mit.edu	37	1	36558763	36558763	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:36558763C>A	ENST00000373178.4	+	6	898	c.868C>A	c.(868-870)Cca>Aca	p.P290T		NM_017825.2	NP_060295.1	Q9NX46	ARHL2_HUMAN	ADP-ribosylhydrolase like 2	290						cytoplasm|nucleus	metal ion binding|poly(ADP-ribose) glycohydrolase activity			cervix(1)|endometrium(2)|large_intestine(1)|lung(3)|pancreas(1)	8		Myeloproliferative disorder(586;0.0393)				CTGCATGGAGCCAGACCCTGA	0.552													9	64					7.48243e-07	8.64403e-07	1	1	0	A	36558763	C	A	36558763	3	1	81	1	0	0	0	0	1	0	0	0	332	739	26	5	890	5	ADPRHL2	1	36558763	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	344654	36558763	212691858	378	3994											
COL8A2	1296	broad.mit.edu	37	1	36564678	36564678	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:36564678G>A	ENST00000397799.1	-	4	828	c.604C>T	c.(604-606)Cga>Tga	p.R202*	COL8A2_ENST00000303143.4_Nonsense_Mutation_p.R202*|COL8A2_ENST00000481785.1_Nonsense_Mutation_p.R137*			P25067	CO8A2_HUMAN	collagen, type VIII, alpha 2	202	Triple-helical region.				angiogenesis|cell-cell adhesion|extracellular matrix organization	basement membrane|collagen	extracellular matrix structural constituent|protein binding, bridging			NS(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				TTGAGGCCTCGATCACCTGGG	0.726													3	4					0	0	1	0	0	A	36564678	G	A	36564678	4	1	81	1	0	0	0	0	0	1	0	0	3729	1066	37	1	1511	1	COL8A2	1	36564678	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	5915	36564678	212685943	379	3995											
THRAP3	9967	broad.mit.edu	37	1	36752440	36752440	+	Silent	SNP	G	G	A	rs142896902		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:36752440G>A	ENST00000354618.5	+	4	833	c.609G>A	c.(607-609)gaG>gaA	p.E203E	THRAP3_ENST00000469141.2_Silent_p.E203E	NM_005119.3	NP_005110.2	Q9Y2W1	TR150_HUMAN	thyroid hormone receptor associated protein 3	203	Ser-rich.				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ATP binding|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				AGGCCAAGGAGCAGACATTCT	0.537			T	USP6	aneurysmal bone cysts								47	75					0	0	1	0	0	A	36752440	G	A	36752440	2	1	81	1	0	0	0	0	0	0	0	1	15934	962	34	2		2	THRAP3	1	36752440	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	187762	36752440	212498181	380	3996											
THRAP3	9967	broad.mit.edu	37	1	36752451	36752451	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:36752451C>A	ENST00000354618.5	+	4	844	c.620C>A	c.(619-621)tCt>tAt	p.S207Y	THRAP3_ENST00000469141.2_Missense_Mutation_p.S207Y	NM_005119.3	NP_005110.2	Q9Y2W1	TR150_HUMAN	thyroid hormone receptor associated protein 3	207	Ser-rich.				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ATP binding|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CAGACATTCTCTGGAGGCACC	0.547			T	USP6	aneurysmal bone cysts								11	91					3.07112e-06	3.5041e-06	1	1	0	A	36752451	C	A	36752451	3	1	81	1	0	0	0	0	1	0	0	0	15934	913	32	4	626	4	THRAP3	1	36752451	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	11	36752451	212498170	381	3997											
THRAP3	9967	broad.mit.edu	37	1	36762305	36762305	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:36762305C>T	ENST00000354618.5	+	9	2461	c.2237C>T	c.(2236-2238)tCc>tTc	p.S746F	THRAP3_ENST00000469141.2_Missense_Mutation_p.S746F	NM_005119.3	NP_005110.2	Q9Y2W1	TR150_HUMAN	thyroid hormone receptor associated protein 3	746					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ATP binding|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				TCCCGAGACTCCAGTCACTCA	0.428			T	USP6	aneurysmal bone cysts								21	48					0	0	1	0	0	T	36762305	C	T	36762305	3	4	81	1	0	0	0	0	1	0	0	0	15934	855	30	2	2263	2	THRAP3	1	36762305	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	9854	36762305	212488316	382	3998											
THRAP3	9967	broad.mit.edu	37	1	36769414	36769414	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:36769414C>T	ENST00000354618.5	+	12	2888	c.2664C>T	c.(2662-2664)ggC>ggT	p.G888G	THRAP3_ENST00000469141.2_Silent_p.G888G	NM_005119.3	NP_005110.2	Q9Y2W1	TR150_HUMAN	thyroid hormone receptor associated protein 3	888					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ATP binding|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				ACCGTGAAGGCGAAGGCAGTG	0.587			T	USP6	aneurysmal bone cysts								35	50					0	0	1	0	0	T	36769414	C	T	36769414	2	4	81	1	0	0	0	0	0	0	0	1	15934	755	27	1		1	THRAP3	1	36769414	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	7109	36769414	212481207	383	3999											
STK40	83931	broad.mit.edu	37	1	36814358	36814358	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:36814358C>T	ENST00000359297.2	-	6	689	c.682G>A	c.(682-684)Gac>Aac	p.D228N	STK40_ENST00000373129.3_Missense_Mutation_p.D228N|STK40_ENST00000373132.3_Missense_Mutation_p.D228N|STK40_ENST00000373130.3_Missense_Mutation_p.D233N			Q8N2I9	STK40_HUMAN	serine/threonine kinase 40	228	Protein kinase.					cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)|stomach(1)	13		Myeloproliferative disorder(586;0.0393)				TTCAGCAGGTCCCCCTCGCTC	0.557													3	11					0	0	1	0	0	T	36814358	C	T	36814358	3	4	81	1	0	0	0	0	1	0	0	0	15363	855	30	2	645	2	STK40	1	36814358	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	44944	36814358	212436263	384	4000											
CSF3R	1441	broad.mit.edu	37	1	36932899	36932899	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:36932899G>T	ENST00000373103.1	-	16	2519	c.1972C>A	c.(1972-1974)Ctc>Atc	p.L658I	CSF3R_ENST00000373104.1_Missense_Mutation_p.L658I|CSF3R_ENST00000487540.2_5'UTR|CSF3R_ENST00000338937.5_Silent_p.P626P|CSF3R_ENST00000418048.2_Missense_Mutation_p.L658I|CSF3R_ENST00000373106.1_Missense_Mutation_p.L658I|CSF3R_ENST00000361632.4_Missense_Mutation_p.L658I|CSF3R_ENST00000440588.2_Missense_Mutation_p.L658I|CSF3R_ENST00000331941.5_Missense_Mutation_p.L658I	NM_156039.3	NP_724781.1	Q99062	CSF3R_HUMAN	colony stimulating factor 3 receptor (granulocyte)	658					cell adhesion|defense response	extracellular region|integral to plasma membrane	cytokine receptor activity			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)			Filgrastim(DB00099)|Pegfilgrastim(DB00019)	CTTGGCCAGAGGGGATTCTTC	0.587													7	139					5.18039e-06	5.88187e-06	1	1	0	T	36932899	G	T	36932899	3	4	81	1	0	0	0	0	1	0	0	0	3962	1000	35	4	736	4	CSF3R	1	36932899	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	118541	36932899	212317722	385	4001											
GRIK3	2899	broad.mit.edu	37	1	37271833	37271833	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:37271833G>A	ENST00000373091.3	-	14	2202	c.2186C>T	c.(2185-2187)gCc>gTc	p.A729V	GRIK3_ENST00000373093.4_Missense_Mutation_p.A729V	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	729					negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	GGCCGTCAGGGCCCTCTGGAT	0.597													24	54					0	0	1	0	0	A	37271833	G	A	37271833	3	1	81	1	0	0	0	0	1	0	0	0	6816	1203	42	2	585	2	GRIK3	1	37271833	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	338934	37271833	211978788	386	4002											
GRIK3	2899	broad.mit.edu	37	1	37315910	37315910	+	Splice_Site	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:37315910A>G	ENST00000373091.3	-	9	1343		c.e9+1		GRIK3_ENST00000462621.1_Splice_Site|GRIK3_ENST00000373093.4_Splice_Site	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3						negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	GCAGGCTCTTACCAGCACTGT	0.612													3	60					0	0	1	0	0	G	37315910	A	G	37315910	5	3	81	1	0	0	0	0	0	0	1	0	6816	405	14	3	1463	3	GRIK3	1	37315910	Splice_Site	SNP	A	TCGA-DU-6392-01A-11D-1705-08	44077	37315910	211934711	387	4003											
GRIK3	2899	broad.mit.edu	37	1	37356573	37356573	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:37356573G>T	ENST00000373091.3	-	2	256	c.240C>A	c.(238-240)acC>acA	p.T80T	GRIK3_ENST00000373093.4_Silent_p.T80T	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	80					negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	GTATGTCATAGGTCAAGGTTG	0.547													49	71					2.43468e-25	3.22041e-25	1	1	0	T	37356573	G	T	37356573	2	4	81	1	0	0	0	0	0	0	0	1	6816	987	35	4		4	GRIK3	1	37356573	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	40663	37356573	211894048	388	4004											
ZC3H12A	80149	broad.mit.edu	37	1	37941142	37941143	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:37941142_37941143insA	ENST00000373087.6	+	2	161_162	c.45_46insA	c.(46-48)accfs	p.T16fs		NM_025079.2	NP_079355.2	Q5D1E8	ZC12A_HUMAN	zinc finger CCCH-type containing 12A	16					angiogenesis|apoptosis|cell differentiation	cytoplasm|nucleus|plasma membrane	endonuclease activity|metal ion binding			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				AAGCCAGCCCCACCATGAGTCT	0.634													37	67	---	---	---	---						A	37941143	-	A	37941142	7	5	81	1	0	1	1	0	0	0	0	0	17620	581	21	0	47	0	ZC3H12A	1	37941142	Frame_Shift_Ins	INS	-	TCGA-DU-6392-01A-11D-1705-08	584569	37941142	211309479	389	4005											
GNL2	29889	broad.mit.edu	37	1	38048423	38048423	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:38048423T>C	ENST00000373062.3	-	7	849	c.751A>G	c.(751-753)Att>Gtt	p.I251V		NM_013285.2	NP_037417.1	Q13823	NOG2_HUMAN	guanine nucleotide binding protein-like 2 (nucleolar)	251					ribosome biogenesis	nucleolus	GTP binding|GTPase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	30		Myeloproliferative disorder(586;0.0393)				AGTACAAAAATGAGGTGTTTC	0.383													15	122					0	0	1	0	0	C	38048423	T	C	38048423	3	2	81	1	0	0	0	0	1	0	0	0	6578	1464	51	3	1484	3	GNL2	1	38048423	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	107281	38048423	211202198	390	4006											
RSPO1	284654	broad.mit.edu	37	1	38082240	38082240	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:38082240C>T	ENST00000356545.2	-	5	989	c.202G>A	c.(202-204)Gac>Aac	p.D68N	RSPO1_ENST00000373059.1_Missense_Mutation_p.D41N|RSPO1_ENST00000401070.1_Missense_Mutation_p.D68N|RSPO1_ENST00000401069.1_Missense_Mutation_p.D68N|RSPO1_ENST00000401068.1_Missense_Mutation_p.D68N|RSPO1_ENST00000401071.2_Missense_Mutation_p.D68N	NM_001038633.3	NP_001033722.1	Q2MKA7	RSPO1_HUMAN	R-spondin 1	68					positive regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization		heparin binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)	12		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				TGGCGGATGTCGTTCCTCTCC	0.617													33	48					0	0	1	0	0	T	38082240	C	T	38082240	3	4	81	1	0	0	0	0	1	0	0	0	13761	884	31	1	605	1	RSPO1	1	38082240	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	33817	38082240	211168381	391	4007											
EPHA10	284656	broad.mit.edu	37	1	38184381	38184381	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:38184381G>A	ENST00000373048.4	-	16	2863	c.2864C>T	c.(2863-2865)gCg>gTg	p.A955V	EPHA10_ENST00000427468.2_Missense_Mutation_p.A955V|EPHA10_ENST00000330210.7_Missense_Mutation_p.A450V|EPHA10_ENST00000540011.1_3'UTR|EPHA10_ENST00000446149.2_5'UTR	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN	EPH receptor A10	955	SAM.					extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity			NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GCCAGCAGCCGCGAAGCTGTC	0.672													17	27					0	0	1	0	0	A	38184381	G	A	38184381	3	1	81	1	0	0	0	0	1	0	0	0	5194	1087	38	1	170	1	EPHA10	1	38184381	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	102141	38184381	211066240	392	4008											
MANEAL	149175	broad.mit.edu	37	1	38265634	38265634	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:38265634G>T	ENST00000373045.6	+	4	1514	c.1133G>T	c.(1132-1134)aGg>aTg	p.R378M	MANEAL_ENST00000329006.5_Missense_Mutation_p.R156M|MANEAL_ENST00000525897.1_Missense_Mutation_p.R184M|RP11-109P14.9_ENST00000433474.1_RNA|MANEAL_ENST00000397631.3_3'UTR	NM_001113482.1	NP_001106954.1	Q5VSG8	MANEL_HUMAN	mannosidase, endo-alpha-like	378						Golgi membrane|integral to membrane	hydrolase activity			endometrium(1)|large_intestine(1)|liver(1)|lung(1)|prostate(3)	7	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				ACGCGCAACAGGGTCAATGGC	0.557													9	55					0.000274275	0.000297259	1	1	0	T	38265634	G	T	38265634	3	4	81	1	0	0	0	0	1	0	0	0	9272	1000	35	4	1147	4	MANEAL	1	38265634	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	81253	38265634	210984987	393	4009											
YRDC	79693	broad.mit.edu	37	1	38272585	38272585	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:38272585G>A	ENST00000373044.2	-	3	572	c.568C>T	c.(568-570)Ccg>Tcg	p.P190S		NM_024640.3	NP_078916.3	Q86U90	YRDC_HUMAN	yrdC N(6)-threonylcarbamoyltransferase domain containing	190	YrdC-like.				negative regulation of transport	membrane|mitochondrion				lung(2)|upper_aerodigestive_tract(1)	3	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				AGAGCAAGCGGACCCTCAAAC	0.512													8	62					0	0	1	0	0	A	38272585	G	A	38272585	3	1	81	1	0	0	0	0	1	0	0	0	17554	1174	41	2	283	2	YRDC	1	38272585	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	6951	38272585	210978036	394	4010											
INPP5B	3633	broad.mit.edu	37	1	38343867	38343867	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:38343867T>C	ENST00000373023.2	-	16	2003	c.1910A>G	c.(1909-1911)gAc>gGc	p.D637G	INPP5B_ENST00000373026.1_Missense_Mutation_p.D637G|INPP5B_ENST00000373027.1_Missense_Mutation_p.D393G|INPP5B_ENST00000373024.3_Missense_Mutation_p.D557G|INPP5B_ENST00000458109.2_3'UTR	NM_005540.2	NP_005531.2	P32019	I5P2_HUMAN	inositol polyphosphate-5-phosphatase, 75kDa	637					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to membrane|microtubule cytoskeleton	GTPase activator activity|inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding			breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(9)|urinary_tract(1)	15	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				TACCCCGATGTCAAACACTGA	0.493													16	25					0	0	1	0	0	C	38343867	T	C	38343867	3	2	81	1	0	0	0	0	1	0	0	0	7799	1667	58	3	1107	3	INPP5B	1	38343867	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	71282	38343867	210906754	395	4011											
INPP5B	3633	broad.mit.edu	37	1	38355275	38355275	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:38355275G>A	ENST00000373023.2	-	9	1084	c.991C>T	c.(991-993)Cat>Tat	p.H331Y	INPP5B_ENST00000373026.1_Missense_Mutation_p.H331Y|INPP5B_ENST00000373027.1_Missense_Mutation_p.H87Y|INPP5B_ENST00000373024.3_Missense_Mutation_p.H251Y|INPP5B_ENST00000458109.2_Missense_Mutation_p.H14Y	NM_005540.2	NP_005531.2	P32019	I5P2_HUMAN	inositol polyphosphate-5-phosphatase, 75kDa	331					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to membrane|microtubule cytoskeleton	GTPase activator activity|inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding			breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(9)|urinary_tract(1)	15	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				TGTAGTAGATGTGATTTCACA	0.413													43	87					0	0	1	0	0	A	38355275	G	A	38355275	3	1	81	1	0	0	0	0	1	0	0	0	7799	1377	48	2	2054	2	INPP5B	1	38355275	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	11408	38355275	210895346	396	4012											
RRAGC	64121	broad.mit.edu	37	1	39321445	39321445	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:39321445C>A	ENST00000373001.3	-	3	752	c.576G>T	c.(574-576)caG>caT	p.Q192H		NM_022157.2	NP_071440.1	Q9HB90	RRAGC_HUMAN	Ras-related GTP binding C	192					apoptosis|cell growth|cellular protein localization|cellular response to amino acid stimulus|positive regulation of TOR signaling cascade|RNA splicing|small GTPase mediated signal transduction|transcription, DNA-dependent	lysosome|nucleus	GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein heterodimerization activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)	10	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)				GAATGTCCCTCTGTGTTTCTA	0.383													28	106					4.7796e-09	5.73439e-09	1	1	0	A	39321445	C	A	39321445	3	1	81	1	0	0	0	0	1	0	0	0	13726	912	32	4	643	4	RRAGC	1	39321445	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	966170	39321445	209929176	397	4013											
GJA9	81025	broad.mit.edu	37	1	39340514	39340514	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:39340514C>T	ENST00000454994.2	-	2	1533	c.1257G>A	c.(1255-1257)ccG>ccA	p.P419P	RP5-864K19.4_ENST00000433671.2_RNA|RP5-864K19.4_ENST00000443161.1_RNA|GJA9_ENST00000360786.3_Silent_p.P419P|RP5-864K19.4_ENST00000456813.1_RNA|GJA9_ENST00000357771.3_Silent_p.P419P|MYCBP_ENST00000489803.1_5'UTR			P57773	CXA9_HUMAN	gap junction protein, alpha 9, 59kDa	419					cell communication	connexon complex|integral to membrane				breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;8.23e-17)			TAAGCCACCGCGGTTTCCAAT	0.507													15	29					0	0	1	0	0	T	39340514	C	T	39340514	2	4	81	1	0	0	0	0	0	0	0	1	6448	755	27	1		1	GJA9	1	39340514	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	19069	39340514	209910107	398	4014											
MACF1	23499	broad.mit.edu	37	1	39763312	39763312	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:39763312G>A	ENST00000564288.1	+	21	3153	c.2376G>A	c.(2374-2376)gaG>gaA	p.E792E	MACF1_ENST00000372915.3_Silent_p.E797E|MACF1_ENST00000361689.2_Silent_p.E797E|MACF1_ENST00000539005.1_Silent_p.E797E|MACF1_ENST00000545844.1_Silent_p.E797E|MACF1_ENST00000317713.7_Silent_p.E797E|MACF1_ENST00000567887.1_Silent_p.E829E			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	797					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			ATGCACGAGAGCTGGAGTCAT	0.418													36	75					0	0	1	0	0	A	39763312	G	A	39763312	2	1	81	1	0	0	0	0	0	0	0	1	9190	962	34	2		2	MACF1	1	39763312	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	422798	39763312	209487309	399	4015											
MACF1	23499	broad.mit.edu	37	1	39763358	39763358	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:39763358T>C	ENST00000564288.1	+	21	3199	c.2422T>C	c.(2422-2424)Tat>Cat	p.Y808H	MACF1_ENST00000372915.3_Missense_Mutation_p.Y813H|MACF1_ENST00000361689.2_Missense_Mutation_p.Y813H|MACF1_ENST00000539005.1_Missense_Mutation_p.Y813H|MACF1_ENST00000545844.1_Missense_Mutation_p.Y813H|MACF1_ENST00000317713.7_Missense_Mutation_p.Y813H|MACF1_ENST00000567887.1_Missense_Mutation_p.Y845H			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	813					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TAAACGAAAATATTCCTGTGA	0.473													26	49					0	0	1	0	0	C	39763358	T	C	39763358	3	2	81	1	0	0	0	0	1	0	0	0	9190	1406	49	3	2515	3	MACF1	1	39763358	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	46	39763358	209487263	400	4016											
MACF1	23499	broad.mit.edu	37	1	39797948	39797948	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:39797948G>T	ENST00000564288.1	+	37	6465	c.5688G>T	c.(5686-5688)gaG>gaT	p.E1896D	MACF1_ENST00000289893.4_Missense_Mutation_p.E336D|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000372915.3_Missense_Mutation_p.E1901D|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000567887.1_Missense_Mutation_p.E1933D			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	1901					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CAACCACAGAGATTTTGTCCT	0.408													6	77					8.12818e-05	8.94031e-05	1	1	0	T	39797948	G	T	39797948	3	4	81	1	0	0	0	0	1	0	0	0	9190	933	33	4	5779	4	MACF1	1	39797948	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	34590	39797948	209452673	401	4017											
MACF1	23499	broad.mit.edu	37	1	39835840	39835840	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:39835840G>A	ENST00000564288.1	+	51	13854	c.13077G>A	c.(13075-13077)aaG>aaA	p.K4359K	MACF1_ENST00000289893.4_Silent_p.K2799K|MACF1_ENST00000476350.1_3'UTR|MACF1_ENST00000372915.3_Silent_p.K4364K|MACF1_ENST00000361689.2_Silent_p.K2297K|MACF1_ENST00000539005.1_Silent_p.K2297K|MACF1_ENST00000545844.1_Silent_p.K2297K|MACF1_ENST00000317713.7_Silent_p.K2297K|MACF1_ENST00000567887.1_Silent_p.K4396K			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	4364					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AGTTAGAAAAGCAGATTGAAC	0.453													3	24					0	0	1	0	0	A	39835840	G	A	39835840	2	1	81	1	0	0	0	0	0	0	0	1	9190	962	34	2		2	MACF1	1	39835840	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	37892	39835840	209414781	402	4018											
MACF1	23499	broad.mit.edu	37	1	39851175	39851175	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:39851175C>A	ENST00000564288.1	+	57	14695	c.13918C>A	c.(13918-13920)Cta>Ata	p.L4640I	MACF1_ENST00000289893.4_Missense_Mutation_p.L3080I|MACF1_ENST00000372915.3_Missense_Mutation_p.L4645I|MACF1_ENST00000361689.2_Missense_Mutation_p.L2578I|MACF1_ENST00000539005.1_Missense_Mutation_p.L2557I|MACF1_ENST00000545844.1_Missense_Mutation_p.L2578I|MACF1_ENST00000317713.7_Missense_Mutation_p.L2578I|MACF1_ENST00000567887.1_Missense_Mutation_p.L4677I			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	4645					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TCAGGGCATCCTAACAGGCCC	0.458													10	22					0.0581538	0.0592525	1	1	0	A	39851175	C	A	39851175	3	1	81	1	0	0	0	0	1	0	0	0	9190	680	24	4	14089	4	MACF1	1	39851175	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	15335	39851175	209399446	403	4019											
KIAA0754	643314	broad.mit.edu	37	1	39877589	39877589	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:39877589C>A	ENST00000530275.1	+	1	1439	c.1244C>A	c.(1243-1245)gCt>gAt	p.A415D	MACF1_ENST00000289893.4_Intron|MACF1_ENST00000372915.3_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000564288.1_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000567887.1_Intron	NM_015038.1	NP_055853.1	O94854	K0754_HUMAN	KIAA0754	415										central_nervous_system(1)|large_intestine(6)|skin(1)	8	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GTGCCTAATGCTGTGGAACTT	0.408													4	63					1	1	1	1	0	A	39877589	C	A	39877589	3	1	81	1	0	0	0	0	1	0	0	0	8234	797	28	4	1654	4	KIAA0754	1	39877589	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	26414	39877589	209373032	404	4020											
MACF1	23499	broad.mit.edu	37	1	39893657	39893657	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:39893657C>A	ENST00000564288.1	+	63	17278	c.16501C>A	c.(16501-16503)Cat>Aat	p.H5501N	MACF1_ENST00000289893.4_Missense_Mutation_p.H3941N|MACF1_ENST00000372915.3_Intron|MACF1_ENST00000361689.2_Missense_Mutation_p.H3439N|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000545844.1_Missense_Mutation_p.H3439N|MACF1_ENST00000317713.7_Missense_Mutation_p.H3439N|MACF1_ENST00000567887.1_Missense_Mutation_p.H5538N			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	5506					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CATAGAAAACCATGCAACAGA	0.398													4	24					0.248553	0.249876	1	1	0	A	39893657	C	A	39893657	3	1	81	1	0	0	0	0	1	0	0	0	9190	594	21	5	16696	5	MACF1	1	39893657	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	16068	39893657	209356964	405	4021											
MACF1	23499	broad.mit.edu	37	1	39895603	39895603	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:39895603C>T	ENST00000564288.1	+	65	17770	c.16993C>T	c.(16993-16995)Cgg>Tgg	p.R5665W	MACF1_ENST00000289893.4_Missense_Mutation_p.R4105W|MACF1_ENST00000372915.3_Missense_Mutation_p.R5561W|MACF1_ENST00000361689.2_Missense_Mutation_p.R3603W|MACF1_ENST00000539005.1_Missense_Mutation_p.R3473W|MACF1_ENST00000545844.1_Missense_Mutation_p.R3603W|MACF1_ENST00000317713.7_Missense_Mutation_p.R3603W|MACF1_ENST00000567887.1_Missense_Mutation_p.R5702W			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	5670					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AGAGCAAGCCCGGCAGCTGGC	0.532													13	29					0	0	1	0	0	T	39895603	C	T	39895603	3	4	81	1	0	0	0	0	1	0	0	0	9190	643	23	1	17196	1	MACF1	1	39895603	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1946	39895603	209355018	406	4022											
PABPC4	8761	broad.mit.edu	37	1	40035600	40035600	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:40035600A>G	ENST00000372857.3	-	4	1370	c.578T>C	c.(577-579)gTt>gCt	p.V193A	PABPC4_ENST00000372858.3_Missense_Mutation_p.V193A|RP11-69E11.8_ENST00000415255.1_RNA|PABPC4_ENST00000529216.1_5'UTR|PABPC4_ENST00000372862.3_Missense_Mutation_p.V193A|PABPC4_ENST00000372856.3_Missense_Mutation_p.V193A	NM_003819.3	NP_003810.1	Q13310	PABP4_HUMAN	poly(A) binding protein, cytoplasmic 4 (inducible form)	193	RRM 3.				blood coagulation|RNA catabolic process|RNA processing|translation	cytoplasm|ribonucleoprotein complex	nucleotide binding|poly(A) RNA binding|poly(U) RNA binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(3)	21	Lung NSC(20;1.55e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.89e-18)|Epithelial(16;6.17e-17)|all cancers(16;1.18e-15)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			TTTGATATAAACATTGGTGAA	0.428													43	56					0	0	1	0	0	G	40035600	A	G	40035600	3	3	81	1	0	0	0	0	1	0	0	0	11413	43	2	3	1452	3	PABPC4	1	40035600	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	139997	40035600	209215021	407	4023											
TRIT1	54802	broad.mit.edu	37	1	40309783	40309783	+	Silent	SNP	G	G	A	rs142932194		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:40309783G>A	ENST00000316891.5	-	10	1238	c.1224C>T	c.(1222-1224)cgC>cgT	p.R408R	TRIT1_ENST00000491865.1_5'UTR|TRIT1_ENST00000441669.2_Silent_p.R326R|TRIT1_ENST00000541099.1_Silent_p.R26R|TRIT1_ENST00000537223.1_Silent_p.R104R|TRIT1_ENST00000537440.1_Silent_p.R104R|TRIT1_ENST00000545233.1_Silent_p.R162R|TRIT1_ENST00000372818.1_Silent_p.R382R	NM_017646.4	NP_060116.2	Q9H3H1	MOD5_HUMAN	tRNA isopentenyltransferase 1	408					tRNA processing	mitochondrion	ATP binding|metal ion binding|tRNA dimethylallyltransferase activity			breast(1)|large_intestine(5)|liver(1)|lung(3)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(1)	15	all_cancers(7;4.55e-14)|all_lung(5;1.23e-16)|all_epithelial(6;2.17e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;3.29e-18)|Epithelial(16;3.07e-17)|all cancers(16;6.21e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			CTGCCCATTCGCGATCCCCAA	0.453													11	30					0	0	1	0	0	A	40309783	G	A	40309783	2	1	81	1	0	0	0	0	0	0	0	1	16621	1074	38	1		1	TRIT1	1	40309783	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	274183	40309783	208940838	408	4024											
MFSD2A	84879	broad.mit.edu	37	1	40422876	40422876	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:40422876C>A	ENST00000372809.5	+	2	354	c.211C>A	c.(211-213)Cta>Ata	p.L71I	MFSD2A_ENST00000420632.2_Intron|MFSD2A_ENST00000372811.5_Missense_Mutation_p.L71I	NM_001136493.1	NP_001129965.1	Q8NA29	MFS2A_HUMAN	major facilitator superfamily domain containing 2A	71					transmembrane transport	endoplasmic reticulum membrane|integral to membrane				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						TCAGATCTACCTATTGGATGT	0.537													17	191					5.03518e-11	6.21509e-11	1	1	0	A	40422876	C	A	40422876	3	1	81	1	0	0	0	0	1	0	0	0	9580	680	24	4	217	4	MFSD2A	1	40422876	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	113093	40422876	208827745	409	4025											
MFSD2A	84879	broad.mit.edu	37	1	40432323	40432323	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:40432323C>A	ENST00000372809.5	+	7	947	c.804C>A	c.(802-804)atC>atA	p.I268I	MFSD2A_ENST00000420632.2_Silent_p.I99I|MFSD2A_ENST00000372811.5_Silent_p.I255I|MFSD2A_ENST00000480630.1_3'UTR	NM_001136493.1	NP_001129965.1	Q8NA29	MFS2A_HUMAN	major facilitator superfamily domain containing 2A	268					transmembrane transport	endoplasmic reticulum membrane|integral to membrane				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						TCTATATAATCTGTGCTGTCA	0.542													33	99					1.06647e-15	1.36289e-15	1	1	0	A	40432323	C	A	40432323	2	1	81	1	0	0	0	0	0	0	0	1	9580	903	32	4		4	MFSD2A	1	40432323	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	9447	40432323	208818298	410	4026											
COL9A2	1298	broad.mit.edu	37	1	40777351	40777351	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:40777351C>A	ENST00000372748.3	-	9	550	c.454G>T	c.(454-456)Gga>Tga	p.G152*		NM_001852.3	NP_001843.1	Q14055	CO9A2_HUMAN	collagen, type IX, alpha 2	152	Triple-helical region 4 (COL4).				axon guidance|skeletal system development	collagen type IX				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(4)|stomach(2)|urinary_tract(2)	22	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.08e-17)			CCAGGGGGTCCTGGGGGCCCC	0.607													10	89					2.74318e-10	3.35469e-10	1	1	0	A	40777351	C	A	40777351	4	1	81	1	0	0	0	0	0	1	0	0	3731	690	24	4	1711	4	COL9A2	1	40777351	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	345028	40777351	208473270	411	4027											
SMAP2	64744	broad.mit.edu	37	1	40874359	40874359	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:40874359G>A	ENST00000539317.1	+	3	225	c.32G>A	c.(31-33)cGa>cAa	p.R11Q		NM_001198980.1	NP_001185909.1	Q8WU79	SMAP2_HUMAN	small ArfGAP2	91					regulation of ARF GTPase activity	cytoplasm|nucleus	ARF GTPase activator activity|zinc ion binding			central_nervous_system(3)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(2)|upper_aerodigestive_tract(1)	24	Lung NSC(20;1.56e-05)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;1.04e-17)			AAGGCAAACCGACTTTATGAA	0.438													42	50					0	0	1	0	0	A	40874359	G	A	40874359	3	1	81	1	0	0	0	0	1	0	0	0	14821	1058	37	1	282	1	SMAP2	1	40874359	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	97008	40874359	208376262	412	4028											
SMAP2	64744	broad.mit.edu	37	1	40881994	40881994	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:40881994G>A	ENST00000539317.1	+	8	781	c.588G>A	c.(586-588)acG>acA	p.T196T		NM_001198980.1	NP_001185909.1	Q8WU79	SMAP2_HUMAN	small ArfGAP2	276	Interaction with clathrin heavy chains (By similarity).				regulation of ARF GTPase activity	cytoplasm|nucleus	ARF GTPase activator activity|zinc ion binding	p.T276T(1)		central_nervous_system(3)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(2)|upper_aerodigestive_tract(1)	24	Lung NSC(20;1.56e-05)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;1.04e-17)			GATCCCAGACGCCTCAAATGC	0.458													36	65					0	0	1	0	0	A	40881994	G	A	40881994	2	1	81	1	0	0	0	0	0	0	0	1	14821	1074	38	1		1	SMAP2	1	40881994	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	7635	40881994	208368627	413	4029											
KCNQ4	9132	broad.mit.edu	37	1	41288056	41288056	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:41288056G>T	ENST00000347132.5	+	8	1194	c.1112G>T	c.(1111-1113)aGt>aTt	p.S371I	KCNQ4_ENST00000509682.2_Missense_Mutation_p.S371I|KCNQ4_ENST00000506017.1_3'UTR	NM_004700.3|NM_172163.2	NP_004691.2|NP_751895.1	P56696	KCNQ4_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 4	371					sensory perception of sound	basal plasma membrane|voltage-gated potassium channel complex				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(13)|skin(1)	26	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.38e-17)			TACTATGACAGTATCCTCCCA	0.627													9	23					2.52707e-12	3.15709e-12	1	1	0	T	41288056	G	T	41288056	3	4	81	1	0	0	0	0	1	0	0	0	8129	1029	36	4	1142	4	KCNQ4	1	41288056	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	406062	41288056	207962565	414	4030											
KCNQ4	9132	broad.mit.edu	37	1	41303411	41303411	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:41303411C>T	ENST00000347132.5	+	13	1902	c.1820C>T	c.(1819-1821)gCg>gTg	p.A607V	KCNQ4_ENST00000509682.2_Missense_Mutation_p.A553V|KCNQ4_ENST00000506017.1_3'UTR	NM_004700.3|NM_172163.2	NP_004691.2|NP_751895.1	P56696	KCNQ4_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 4	607	A-domain (Tetramerization).				sensory perception of sound	basal plasma membrane|voltage-gated potassium channel complex		p.A607V(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(13)|skin(1)	26	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.38e-17)			CCCTCCGACGCGGAGGTGGTG	0.627													8	3					0	0	1	0	0	T	41303411	C	T	41303411	3	4	81	1	0	0	0	0	1	0	0	0	8129	768	27	1	1870	1	KCNQ4	1	41303411	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	15355	41303411	207947210	415	4031											
SCMH1	22955	broad.mit.edu	37	1	41512229	41512229	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:41512229C>T	ENST00000402904.2	-	12	1686	c.1318G>A	c.(1318-1320)Gtc>Atc	p.V440I	SCMH1_ENST00000397171.2_Missense_Mutation_p.V379I|SCMH1_ENST00000372597.1_Missense_Mutation_p.V393I|SCMH1_ENST00000372596.1_Missense_Mutation_p.V379I|SCMH1_ENST00000456518.2_Missense_Mutation_p.V282I|SCMH1_ENST00000361705.3_Missense_Mutation_p.V393I|SCMH1_ENST00000372595.1_Missense_Mutation_p.V379I|SCMH1_ENST00000326197.7_Missense_Mutation_p.V440I|SCMH1_ENST00000397174.2_Missense_Mutation_p.V420I|SCMH1_ENST00000337495.5_Missense_Mutation_p.V450I|SCMH1_ENST00000361191.5_Missense_Mutation_p.V379I	NM_001031694.2	NP_001026864.1	Q96GD3	SCMH1_HUMAN	sex comb on midleg homolog 1 (Drosophila)	440					anatomical structure morphogenesis|gene silencing|multicellular organismal development|negative regulation of transcription, DNA-dependent		DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(2)|pancreas(2)|upper_aerodigestive_tract(1)	15	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)|Breast(333;0.162)	Myeloproliferative disorder(586;0.0393)				ATGCTGTTGACTGCTGGGAGG	0.542													5	74					0	0	1	0	0	T	41512229	C	T	41512229	3	4	81	1	0	0	0	0	1	0	0	0	13962	565	20	2	684	2	SCMH1	1	41512229	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	208818	41512229	207738392	416	4032											
SCMH1	22955	broad.mit.edu	37	1	41579057	41579057	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:41579057G>A	ENST00000402904.2	-	8	981	c.613C>T	c.(613-615)Cga>Tga	p.R205*	SCMH1_ENST00000372596.1_Nonsense_Mutation_p.R144*|SCMH1_ENST00000372597.1_Nonsense_Mutation_p.R158*|SCMH1_ENST00000456518.2_Intron|SCMH1_ENST00000397171.2_Nonsense_Mutation_p.R144*|SCMH1_ENST00000397174.2_Nonsense_Mutation_p.R185*|SCMH1_ENST00000326197.7_Nonsense_Mutation_p.R205*|SCMH1_ENST00000372595.1_Nonsense_Mutation_p.R144*|SCMH1_ENST00000361705.3_Nonsense_Mutation_p.R158*|SCMH1_ENST00000337495.5_Nonsense_Mutation_p.R215*|SCMH1_ENST00000361191.5_Nonsense_Mutation_p.R144*	NM_001031694.2	NP_001026864.1	Q96GD3	SCMH1_HUMAN	sex comb on midleg homolog 1 (Drosophila)	205					anatomical structure morphogenesis|gene silencing|multicellular organismal development|negative regulation of transcription, DNA-dependent		DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(2)|pancreas(2)|upper_aerodigestive_tract(1)	15	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)|Breast(333;0.162)	Myeloproliferative disorder(586;0.0393)				AAGGCCCCTCGCCACCCATCA	0.567													45	46					0	0	1	0	0	A	41579057	G	A	41579057	4	1	81	1	0	0	0	0	0	1	0	0	13962	1095	38	1	1405	1	SCMH1	1	41579057	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	66828	41579057	207671564	417	4033											
HIVEP3	59269	broad.mit.edu	37	1	41976860	41976860	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:41976860G>T	ENST00000372584.1	-	8	7494	c.6480C>A	c.(6478-6480)ctC>ctA	p.L2160L	HIVEP3_ENST00000460604.1_5'UTR|HIVEP3_ENST00000429157.2_Silent_p.L2160L|HIVEP3_ENST00000247584.5_Silent_p.L2161L|HIVEP3_ENST00000372583.1_Silent_p.L2161L	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	2161					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)				GGAAGTCATGGAGGGCGGAGA	0.622													5	42					0.0215528	0.0221217	1	1	0	T	41976860	G	T	41976860	2	4	81	1	0	0	0	0	0	0	0	1	7229	1161	41	5		5	HIVEP3	1	41976860	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	397803	41976860	207273761	418	4034											
HIVEP3	59269	broad.mit.edu	37	1	42045648	42045648	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:42045648G>T	ENST00000372584.1	-	3	5835	c.4821C>A	c.(4819-4821)tgC>tgA	p.C1607*	HIVEP3_ENST00000429157.2_Nonsense_Mutation_p.C1607*|HIVEP3_ENST00000247584.5_Nonsense_Mutation_p.C1607*|HIVEP3_ENST00000372583.1_Nonsense_Mutation_p.C1607*	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	1607					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)				AGTTTAAATAGCACCAACTGA	0.483													6	154					8.12818e-05	8.94031e-05	1	1	0	T	42045648	G	T	42045648	4	4	81	1	0	0	0	0	0	1	0	0	7229	963	34	4	2423	4	HIVEP3	1	42045648	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	68788	42045648	207204973	419	4035											
HIVEP3	59269	broad.mit.edu	37	1	42047197	42047197	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:42047197G>A	ENST00000372584.1	-	3	4286	c.3272C>T	c.(3271-3273)gCg>gTg	p.A1091V	HIVEP3_ENST00000429157.2_Missense_Mutation_p.A1091V|HIVEP3_ENST00000247584.5_Missense_Mutation_p.A1091V|HIVEP3_ENST00000372583.1_Missense_Mutation_p.A1091V	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	1091					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)				TGAGGTGGCCGCAGAGGAAAT	0.607													29	33					0	0	1	0	0	A	42047197	G	A	42047197	3	1	81	1	0	0	0	0	1	0	0	0	7229	1087	38	1	3972	1	HIVEP3	1	42047197	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1549	42047197	207203424	420	4036											
HIVEP3	59269	broad.mit.edu	37	1	42049277	42049277	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:42049277C>T	ENST00000372584.1	-	3	2206	c.1192G>A	c.(1192-1194)Gag>Aag	p.E398K	HIVEP3_ENST00000429157.2_Missense_Mutation_p.E398K|HIVEP3_ENST00000247584.5_Missense_Mutation_p.E398K|HIVEP3_ENST00000372583.1_Missense_Mutation_p.E398K	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	398	No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity).|Ser-rich.				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)				TCTGCACTCTCGGAGCGAGAG	0.577													24	41					0	0	1	0	0	T	42049277	C	T	42049277	3	4	81	1	0	0	0	0	1	0	0	0	7229	893	31	1	6052	1	HIVEP3	1	42049277	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2080	42049277	207201344	421	4037											
RIMKLA	284716	broad.mit.edu	37	1	42875795	42875795	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:42875795C>T	ENST00000431473.3	+	4	751	c.622C>T	c.(622-624)Cag>Tag	p.Q208*		NM_173642.3	NP_775913.2	Q8IXN7	RIMKA_HUMAN	ribosomal modification protein rimK-like family member A	208	ATP-grasp.				protein modification process	cytoplasm	acid-amino acid ligase activity|ATP binding|metal ion binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	13						GGTAGGGGGCCAGGTCATAGG	0.527													5	72					0	0	1	0	0	T	42875795	C	T	42875795	4	4	81	1	0	0	0	0	0	1	0	0	13417	595	21	2	636	2	RIMKLA	1	42875795	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	826518	42875795	206374826	422	4038											
CCDC30	728621	broad.mit.edu	37	1	43076716	43076716	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:43076716G>A	ENST00000428554.2	+	17	2594	c.1451G>A	c.(1450-1452)cGt>cAt	p.R484H	CCDC30_ENST00000390640.4_Missense_Mutation_p.R273H|CCDC30_ENST00000342022.4_Missense_Mutation_p.R484H|CCDC30_ENST00000507855.1_Missense_Mutation_p.R273H|CCDC30_ENST00000340612.4_Missense_Mutation_p.R484H			Q5VVM6	CCD30_HUMAN	coiled-coil domain containing 30	484										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	30						GAAGCTCTACGTGAAGAATAT	0.358													20	49					0	0	1	0	0	A	43076716	G	A	43076716	3	1	81	1	0	0	0	0	1	0	0	0	2824	1145	40	1	1485	1	CCDC30	1	43076716	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	200921	43076716	206173905	423	4039											
CLDN19	149461	broad.mit.edu	37	1	43204139	43204139	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:43204139G>A	ENST00000539749.1	-	2	531	c.341C>T	c.(340-342)gCc>gTc	p.A114V	CLDN19_ENST00000296387.1_Missense_Mutation_p.A114V|CLDN19_ENST00000372539.3_Missense_Mutation_p.A114V	NM_001185117.1	NP_001172046.1	Q8N6F1	CLD19_HUMAN	claudin 19	114					calcium-independent cell-cell adhesion|response to stimulus|visual perception	basolateral plasma membrane|integral to membrane|tight junction	identical protein binding			breast(2)|large_intestine(1)|lung(2)|skin(1)	6	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				ACGGCCCTTGGCAATGGGGTT	0.652													16	21					0	0	1	0	0	A	43204139	G	A	43204139	3	1	81	1	0	0	0	0	1	0	0	0	3503	1203	42	2	465	2	CLDN19	1	43204139	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	127423	43204139	206046482	424	4040											
LEPRE1	64175	broad.mit.edu	37	1	43220608	43220608	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:43220608T>C	ENST00000236040.4	-	8	1317	c.1277A>G	c.(1276-1278)aAg>aGg	p.K426R	LEPRE1_ENST00000397054.3_Missense_Mutation_p.K426R|LEPRE1_ENST00000296388.5_Missense_Mutation_p.K426R	NM_001243246.1	NP_001230175.1	Q32P28	P3H1_HUMAN	leucine proline-enriched proteoglycan (leprecan) 1	426					negative regulation of cell proliferation	endoplasmic reticulum|proteinaceous extracellular matrix	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity			large_intestine(2)|lung(15)|ovary(5)|prostate(1)|urinary_tract(3)	26	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)			L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	CTCGATTTCCTTCATAAGGTT	0.557													5	44					0	0	1	0	0	C	43220608	T	C	43220608	3	2	81	1	0	0	0	0	1	0	0	0	8768	1609	56	3	984	3	LEPRE1	1	43220608	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	16469	43220608	206030013	425	4041											
LEPRE1	64175	broad.mit.edu	37	1	43224620	43224620	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:43224620G>T	ENST00000236040.4	-	4	883	c.843C>A	c.(841-843)aaC>aaA	p.N281K	LEPRE1_ENST00000397054.3_Missense_Mutation_p.N281K|LEPRE1_ENST00000296388.5_Missense_Mutation_p.N281K	NM_001243246.1	NP_001230175.1	Q32P28	P3H1_HUMAN	leucine proline-enriched proteoglycan (leprecan) 1	281					negative regulation of cell proliferation	endoplasmic reticulum|proteinaceous extracellular matrix	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity			large_intestine(2)|lung(15)|ovary(5)|prostate(1)|urinary_tract(3)	26	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)			L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	CCGTGACACAGTTCTGCTTAC	0.418													25	57					1.17739e-12	1.47479e-12	1	1	0	T	43224620	G	T	43224620	3	4	81	1	0	0	0	0	1	0	0	0	8768	1020	36	4	1434	4	LEPRE1	1	43224620	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	4012	43224620	206026001	426	4042											
LEPRE1	64175	broad.mit.edu	37	1	43224949	43224949	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:43224949G>T	ENST00000236040.4	-	3	771	c.731C>A	c.(730-732)gCc>gAc	p.A244D	LEPRE1_ENST00000397054.3_Missense_Mutation_p.A244D|LEPRE1_ENST00000296388.5_Missense_Mutation_p.A244D	NM_001243246.1	NP_001230175.1	Q32P28	P3H1_HUMAN	leucine proline-enriched proteoglycan (leprecan) 1	244					negative regulation of cell proliferation	endoplasmic reticulum|proteinaceous extracellular matrix	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity			large_intestine(2)|lung(15)|ovary(5)|prostate(1)|urinary_tract(3)	26	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)			L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	TTCGCAGAGGGCACGGCACTC	0.577													26	41					1.77063e-15	2.25974e-15	1	1	0	T	43224949	G	T	43224949	3	4	81	1	0	0	0	0	1	0	0	0	8768	1203	42	5	1550	5	LEPRE1	1	43224949	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	329	43224949	206025672	427	4043											
SLC2A1	6513	broad.mit.edu	37	1	43396878	43396878	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:43396878C>A	ENST00000426263.3	-	3	293		c.e3-1		SLC2A1_ENST00000372500.3_Splice_Site|SLC2A1_ENST00000415851.2_Splice_Site	NM_006516.2	NP_006507.2	P11166	GTR1_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 1						carbohydrate metabolic process|energy reserve metabolic process|regulation of insulin secretion|water-soluble vitamin metabolic process	integral to membrane|melanosome|membrane fraction|midbody	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|pancreas(2)	13	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0122)			Etomidate(DB00292)	CCTCGATCACCTGCAGGGGGA	0.622											OREG0013425	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	23					0.150653	0.152522	1	1	0	A	43396878	C	A	43396878	5	1	81	1	0	0	0	0	0	0	1	0	14593	695	24	4	1396	4	SLC2A1	1	43396878	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	171929	43396878	205853743	428	4044											
EBNA1BP2	10969	broad.mit.edu	37	1	43630358	43630358	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:43630358C>T	ENST00000431635.2	-	9	1139	c.991G>A	c.(991-993)Gct>Act	p.A331T	EBNA1BP2_ENST00000236051.2_Missense_Mutation_p.A276T	NM_001159936.1	NP_001153408.1	Q99848	EBP2_HUMAN	EBNA1 binding protein 2	276					ribosome biogenesis	membrane fraction|nucleolus	protein binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(9)	16	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CTGCCATGAGCTGTCTTGGCC	0.537													21	38					0	0	1	0	0	T	43630358	C	T	43630358	3	4	81	1	0	0	0	0	1	0	0	0	4911	797	28	2	102	2	EBNA1BP2	1	43630358	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	233480	43630358	205620263	429	4045											
EBNA1BP2	10969	broad.mit.edu	37	1	43636428	43636428	+	Splice_Site	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:43636428T>G	ENST00000431635.2	-	5	759	c.611A>C	c.(610-612)aAg>aCg	p.K204T	EBNA1BP2_ENST00000236051.2_Splice_Site_p.K149T	NM_001159936.1	NP_001153408.1	Q99848	EBP2_HUMAN	EBNA1 binding protein 2	149					ribosome biogenesis	membrane fraction|nucleolus	protein binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(9)	16	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				ATTTCTTACCTTCTGCATCTG	0.453													58	103					0	0	1	0	0	G	43636428	T	G	43636428	5	3	81	1	0	0	0	0	0	0	1	0	4911	1623	56	5	498	5	EBNA1BP2	1	43636428	Splice_Site	SNP	T	TCGA-DU-6392-01A-11D-1705-08	6070	43636428	205614193	430	4046											
WDR65	149465	broad.mit.edu	37	1	43675487	43675487	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:43675487T>C	ENST00000372492.4	+	11	2153	c.1829T>C	c.(1828-1830)tTt>tCt	p.F610S	WDR65_ENST00000528956.1_Missense_Mutation_p.F610S	NM_001195831.2	NP_001182760.2	Q96MR6	WDR65_HUMAN	WD repeat domain 65	610										NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CGCATGATGTTTGTGGGCACC	0.537													4	60					0	0	1	0	0	C	43675487	T	C	43675487	3	2	81	1	0	0	0	0	1	0	0	0	17376	1841	64	3	1867	3	WDR65	1	43675487	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	39059	43675487	205575134	431	4047											
TMEM125	128218	broad.mit.edu	37	1	43738592	43738592	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:43738592C>T	ENST00000432792.2	+	4	769	c.199C>T	c.(199-201)Cgg>Tgg	p.R67W	TMEM125_ENST00000439858.1_Missense_Mutation_p.R67W			Q96AQ2	TM125_HUMAN	transmembrane protein 125	67						integral to membrane				breast(1)|large_intestine(1)|lung(1)	3	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				AGGTGAATGGCGGCTAGCAAC	0.652													6	9					0	0	1	0	0	T	43738592	C	T	43738592	3	4	81	1	0	0	0	0	1	0	0	0	16097	759	27	1	201	1	TMEM125	1	43738592	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	63105	43738592	205512029	432	4048											
C1orf210	149466	broad.mit.edu	37	1	43748742	43748742	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:43748742G>A	ENST00000523677.1	-	3	289	c.56C>T	c.(55-57)gCt>gTt	p.A19V	C1orf210_ENST00000423420.1_Missense_Mutation_p.A19V	NM_001164829.1|NM_182517.2	NP_001158301.1|NP_872323.1	Q8IVY1	CA210_HUMAN	chromosome 1 open reading frame 210	19						integral to membrane				breast(1)	1	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				AGGGGCCACAGCAGACGCTGT	0.637													9	18					0	0	1	0	0	A	43748742	G	A	43748742	3	1	81	1	0	0	0	0	1	0	0	0	2043	971	34	2	289	2	C1orf210	1	43748742	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	10150	43748742	205501879	433	4049											
TIE1	7075	broad.mit.edu	37	1	43770805	43770805	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:43770805G>A	ENST00000372476.3	+	2	421	c.342G>A	c.(340-342)acG>acA	p.T114T	TIE1_ENST00000538015.1_Silent_p.T114T|TIE1_ENST00000441333.2_Silent_p.T114T	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	114					mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CGCGGCGCACGCGCGTCATCT	0.701													4	13					0	0	1	0	0	A	43770805	G	A	43770805	2	1	81	1	0	0	0	0	0	0	0	1	15953	1074	38	1		1	TIE1	1	43770805	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	22063	43770805	205479816	434	4050											
TIE1	7075	broad.mit.edu	37	1	43770818	43770818	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:43770818G>A	ENST00000372476.3	+	2	434	c.355G>A	c.(355-357)Gtg>Atg	p.V119M	TIE1_ENST00000538015.1_Missense_Mutation_p.V119M|TIE1_ENST00000441333.2_Missense_Mutation_p.V119M	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	119					mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CGTCATCTACGTGCACAACAG	0.697													3	12					0	0	1	0	0	A	43770818	G	A	43770818	3	1	81	1	0	0	0	0	1	0	0	0	15953	1145	40	1	361	1	TIE1	1	43770818	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	13	43770818	205479803	435	4051											
TIE1	7075	broad.mit.edu	37	1	43777687	43777687	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:43777687G>A	ENST00000372476.3	+	11	1594	c.1515G>A	c.(1513-1515)acG>acA	p.T505T	TIE1_ENST00000433781.2_Silent_p.T150T	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	505	Fibronectin type-III 1.				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				AGAACGTGACGTTAATGAACC	0.602													20	42					0	0	1	0	0	A	43777687	G	A	43777687	2	1	81	1	0	0	0	0	0	0	0	1	15953	1132	40	1		1	TIE1	1	43777687	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	6869	43777687	205472934	436	4052											
TIE1	7075	broad.mit.edu	37	1	43784988	43784988	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:43784988G>A	ENST00000372476.3	+	18	3084	c.3005G>A	c.(3004-3006)cGg>cAg	p.R1002Q	TIE1_ENST00000433781.2_Missense_Mutation_p.R647Q|TIE1_ENST00000473014.1_3'UTR	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	1002	Protein kinase.				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GGCCTTTCTCGGGGAGAGGAG	0.572													35	48					0	0	1	0	0	A	43784988	G	A	43784988	3	1	81	1	0	0	0	0	1	0	0	0	15953	1116	39	1	3075	1	TIE1	1	43784988	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	7301	43784988	205465633	437	4053											
MPL	4352	broad.mit.edu	37	1	43804212	43804212	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:43804212G>T	ENST00000372470.3	+	3	254		c.e3-1		MPL_ENST00000413998.2_Splice_Site	NM_005373.2	NP_005364.1	P40238	TPOR_HUMAN	myeloproliferative leukemia virus oncogene						cell proliferation|platelet activation	integral to plasma membrane	cytokine receptor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(551)|large_intestine(3)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	567	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				TATGCCAACAGGGAGAAGCCC	0.587			Mis		MPD	MPD	congenital amegakaryocytic thrombocytopenia						9	34					0.00621372	0.00649472	1	1	0	T	43804212	G	T	43804212	5	4	81	1	0	0	0	0	0	0	1	0	9779	1014	35	4	222	4	MPL	1	43804212	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	19224	43804212	205446409	438	4054											
MPL	4352	broad.mit.edu	37	1	43804304	43804304	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:43804304C>T	ENST00000372470.3	+	3	346	c.304C>T	c.(304-306)Cgt>Tgt	p.R102C	MPL_ENST00000413998.2_Missense_Mutation_p.R102C	NM_005373.2	NP_005364.1	P40238	TPOR_HUMAN	myeloproliferative leukemia virus oncogene	102					cell proliferation|platelet activation	integral to plasma membrane	cytokine receptor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(551)|large_intestine(3)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	567	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GGAGGAAGTGCGTCTCTTCTT	0.562			Mis		MPD	MPD	congenital amegakaryocytic thrombocytopenia						17	41					0	0	1	0	0	T	43804304	C	T	43804304	3	4	81	1	0	0	0	0	1	0	0	0	9779	768	27	1	314	1	MPL	1	43804304	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	92	43804304	205446317	439	4055											
CDC20	991	broad.mit.edu	37	1	43824890	43824890	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:43824890G>A	ENST00000372462.1	+	1	207	c.4G>A	c.(4-6)Gca>Aca	p.A2T	CDC20_ENST00000310955.6_Missense_Mutation_p.A2T			Q12834	CDC20_HUMAN	cell division cycle 20	2					activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of synapse maturation|positive regulation of synaptic plasticity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle	cytosol|nucleoplasm|spindle	enzyme binding|protein C-terminus binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	15	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				CGCTCCCATGGCACAGTTCGC	0.652													30	46					0	0	1	0	0	A	43824890	G	A	43824890	3	1	81	1	0	0	0	0	1	0	0	0	3081	1203	42	2	6	2	CDC20	1	43824890	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	20586	43824890	205425731	440	4056											
CDC20	991	broad.mit.edu	37	1	43825273	43825273	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:43825273G>A	ENST00000372462.1	+	2	497	c.294G>A	c.(292-294)gaG>gaA	p.E98E	CDC20_ENST00000310955.6_Silent_p.E98E			Q12834	CDC20_HUMAN	cell division cycle 20	98					activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of synapse maturation|positive regulation of synaptic plasticity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle	cytosol|nucleoplasm|spindle	enzyme binding|protein C-terminus binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	15	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				TGAGCAAGGAGAACCAGCCTG	0.562													11	85					0	0	1	0	0	A	43825273	G	A	43825273	2	1	81	1	0	0	0	0	0	0	0	1	3081	933	33	2		2	CDC20	1	43825273	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	383	43825273	205425348	441	4057											
HYI	81888	broad.mit.edu	37	1	43917949	43917949	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:43917949C>T	ENST00000372425.4	-	3	548	c.353G>A	c.(352-354)cGa>cAa	p.R118Q	HYI_ENST00000372426.1_Missense_Mutation_p.R70Q|HYI_ENST00000486909.1_Missense_Mutation_p.R118Q|HYI_ENST00000583037.1_Missense_Mutation_p.R45Q|HYI_ENST00000372432.1_Missense_Mutation_p.R118Q|SZT2_ENST00000562955.1_3'UTR|HYI_ENST00000372434.1_Missense_Mutation_p.R143Q|SZT2_ENST00000372442.1_3'UTR			Q5T013	HYI_HUMAN	hydroxypyruvate isomerase (putative)	118							hydroxypyruvate isomerase activity			large_intestine(1)|lung(2)|ovary(1)|urinary_tract(2)	6	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GACTGCTATTCGATCAGCTCC	0.572													9	17					0	0	1	0	0	T	43917949	C	T	43917949	3	4	81	1	0	0	0	0	1	0	0	0	7512	884	31	1	504	1	HYI	1	43917949	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	92676	43917949	205332672	442	4058											
PTPRF	5792	broad.mit.edu	37	1	44056724	44056724	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:44056724C>T	ENST00000359947.4	+	9	1371	c.1031C>T	c.(1030-1032)tCg>tTg	p.S344L	PTPRF_ENST00000438120.1_Missense_Mutation_p.S344L|PTPRF_ENST00000372414.3_Missense_Mutation_p.S344L|PTPRF_ENST00000372413.3_Missense_Mutation_p.S344L	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	344	Fibronectin type-III 1.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				TCTGGGAACTCGGAGCCTGTA	0.592													12	148					0	0	1	0	0	T	44056724	C	T	44056724	3	4	81	1	0	0	0	0	1	0	0	0	12853	893	31	1	1057	1	PTPRF	1	44056724	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	138775	44056724	205193897	443	4059											
KDM4A	9682	broad.mit.edu	37	1	44121425	44121425	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:44121425C>A	ENST00000372396.3	+	3	436	c.302C>A	c.(301-303)gCc>gAc	p.A101D	KDM4A_ENST00000463151.1_3'UTR	NM_014663.2	NP_055478.2	O75164	KDM4A_HUMAN	lysine (K)-specific demethylase 4A	101					interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleolus	histone demethylase activity (H3-K36 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(13)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	37						CGCAAGATAGCCAATAGCGAT	0.517													9	13					1.12685e-05	1.27052e-05	1	1	0	A	44121425	C	A	44121425	3	1	81	1	0	0	0	0	1	0	0	0	8172	739	26	5	308	5	KDM4A	1	44121425	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	64701	44121425	205129196	444	4060											
KDM4A	9682	broad.mit.edu	37	1	44149371	44149371	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:44149371T>C	ENST00000372396.3	+	12	1885	c.1751T>C	c.(1750-1752)aTg>aCg	p.M584T		NM_014663.2	NP_055478.2	O75164	KDM4A_HUMAN	lysine (K)-specific demethylase 4A	584					interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleolus	histone demethylase activity (H3-K36 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(13)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	37						GATGAATACATGTTTTCCCTA	0.468													5	65					0	0	1	0	0	C	44149371	T	C	44149371	3	2	81	1	0	0	0	0	1	0	0	0	8172	1464	51	3	1793	3	KDM4A	1	44149371	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	27946	44149371	205101250	445	4061											
ST3GAL3	6487	broad.mit.edu	37	1	44290430	44290430	+	Silent	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:44290430T>G	ENST00000262915.3	+	5	459	c.282T>G	c.(280-282)gtT>gtG	p.V94V	ST3GAL3_ENST00000545417.1_Intron|ST3GAL3_ENST00000372374.2_Intron|ST3GAL3_ENST00000372362.2_Intron|ST3GAL3_ENST00000531816.1_Intron|ST3GAL3_ENST00000351035.3_Silent_p.V63V|ST3GAL3_ENST00000335430.6_Intron|ST3GAL3_ENST00000372366.1_Intron|ST3GAL3_ENST00000361812.4_Intron|ST3GAL3_ENST00000361746.4_Silent_p.V94V|ST3GAL3_ENST00000372372.2_Silent_p.V63V|ST3GAL3_ENST00000332628.6_Intron|ST3GAL3_ENST00000330208.2_Intron|ST3GAL3_ENST00000372368.2_Silent_p.V79V|ST3GAL3_ENST00000361400.4_Intron|ST3GAL3_ENST00000372369.1_Intron|ST3GAL3_ENST00000531451.1_Intron|ST3GAL3_ENST00000353126.3_Intron|ST3GAL3_ENST00000528371.1_Intron|ST3GAL3_ENST00000531993.1_Intron|ST3GAL3_ENST00000372377.4_Intron|ST3GAL3_ENST00000372367.1_Intron|ST3GAL3_ENST00000347631.2_Intron|ST3GAL3_ENST00000372365.1_Intron|ST3GAL3_ENST00000533933.1_Intron|ST3GAL3_ENST00000372375.2_Silent_p.V79V|ST3GAL3_ENST00000461375.1_Intron|ST3GAL3_ENST00000361392.4_Intron	NM_174963.3	NP_777623.2	Q11203	SIAT6_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 3	76				L -> S (in Ref. 3; AAO38810).	protein glycosylation	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	N-acetyllactosaminide alpha-2,3-sialyltransferase activity			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(3)|skin(1)	19	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0518)				GCAcggtggtttttggccttg	0.458													25	48					0	0	1	0	0	G	44290430	T	G	44290430	2	3	81	1	0	0	0	0	0	0	0	1	15272	1828	64	5		5	ST3GAL3	1	44290430	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	141059	44290430	204960191	446	4062											
IPO13	9670	broad.mit.edu	37	1	44415727	44415727	+	Silent	SNP	G	G	A	rs144725438	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:44415727G>A	ENST00000372343.3	+	2	1385	c.723G>A	c.(721-723)gcG>gcA	p.A241A		NM_014652.3	NP_055467.3	O94829	IPO13_HUMAN	importin 13	241					protein import into nucleus	cytoplasm|nucleus	protein binding|protein transporter activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)				ACTGTGAGGCGCTCATTCAGG	0.597													7	14					0	0	1	0	0	A	44415727	G	A	44415727	2	1	81	1	0	0	0	0	0	0	0	1	7838	1074	38	1		1	IPO13	1	44415727	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	125297	44415727	204834894	447	4063											
IPO13	9670	broad.mit.edu	37	1	44422631	44422631	+	Silent	SNP	G	G	A	rs149546323		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:44422631G>A	ENST00000372343.3	+	5	1916	c.1254G>A	c.(1252-1254)gaG>gaA	p.E418E	IPO13_ENST00000492152.1_3'UTR	NM_014652.3	NP_055467.3	O94829	IPO13_HUMAN	importin 13	418					protein import into nucleus	cytoplasm|nucleus	protein binding|protein transporter activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)				ACGAGAAGGAGCAGTTCCGAA	0.512													15	31					0	0	1	0	0	A	44422631	G	A	44422631	2	1	81	1	0	0	0	0	0	0	0	1	7838	962	34	2		2	IPO13	1	44422631	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	6904	44422631	204827990	448	4064											
IPO13	9670	broad.mit.edu	37	1	44423124	44423124	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:44423124C>T	ENST00000372343.3	+	7	2105	c.1443C>T	c.(1441-1443)gaC>gaT	p.D481D	IPO13_ENST00000492152.1_3'UTR	NM_014652.3	NP_055467.3	O94829	IPO13_HUMAN	importin 13	481					protein import into nucleus	cytoplasm|nucleus	protein binding|protein transporter activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)				AGACCATTGACGTCAACTATT	0.567													18	55					0	0	1	0	0	T	44423124	C	T	44423124	2	4	81	1	0	0	0	0	0	0	0	1	7838	535	19	1		1	IPO13	1	44423124	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	493	44423124	204827497	449	4065											
DPH2	1802	broad.mit.edu	37	1	44437630	44437630	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:44437630T>C	ENST00000255108.3	+	4	1228	c.1056T>C	c.(1054-1056)ggT>ggC	p.G352G	DPH2_ENST00000396758.2_Intron|DPH2_ENST00000412950.2_Silent_p.G217G	NM_001384.4	NP_001375.2	Q9BQC3	DPH2_HUMAN	DPH2 homolog (S. cerevisiae)	352					peptidyl-diphthamide biosynthetic process from peptidyl-histidine	cytoplasm				autonomic_ganglia(1)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(2)|skin(1)	19	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)				AGCTTTCTGGTAGCTTCTTCC	0.607													8	64					0	0	1	0	0	C	44437630	T	C	44437630	2	2	81	1	0	0	0	0	0	0	0	1	4747	1625	57	3		3	DPH2	1	44437630	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	14506	44437630	204812991	450	4066											
CCDC24	149473	broad.mit.edu	37	1	44458013	44458013	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:44458013C>T	ENST00000372318.3	+	3	427	c.256C>T	c.(256-258)Cgg>Tgg	p.R86W	SLC6A9_ENST00000372307.3_Intron|CCDC24_ENST00000479055.1_Intron|SLC6A9_ENST00000372306.3_Intron	NM_152499.1	NP_689712.1	Q8N4L8	CCD24_HUMAN	coiled-coil domain containing 24	86										endometrium(3)|large_intestine(2)|lung(3)|stomach(1)	9	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)				CCAGGAGCTCCGGCAGTTGCT	0.647													36	60					0	0	1	0	0	T	44458013	C	T	44458013	3	4	81	1	0	0	0	0	1	0	0	0	2818	643	23	1	262	1	CCDC24	1	44458013	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	20383	44458013	204792608	451	4067											
SLC6A9	6536	broad.mit.edu	37	1	44468188	44468188	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:44468188G>A	ENST00000372310.3	-	7	1019	c.854C>T	c.(853-855)gCc>gTc	p.A285V	SLC6A9_ENST00000372307.3_Missense_Mutation_p.A220V|SLC6A9_ENST00000372306.3_Missense_Mutation_p.A285V|SLC6A9_ENST00000475075.2_Missense_Mutation_p.A174V|SLC6A9_ENST00000537678.1_Missense_Mutation_p.A220V|SLC6A9_ENST00000357730.2_Missense_Mutation_p.A304V|SLC6A9_ENST00000360584.2_Missense_Mutation_p.A358V	NM_001024845.2	NP_001020016.1	P48067	SC6A9_HUMAN	solute carrier family 6 (neurotransmitter transporter, glycine), member 9	358						integral to plasma membrane|membrane fraction	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2)	22	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			Glycine(DB00145)	TCCCACCTTGGCCTCCAGGAT	0.637													28	39					0	0	1	0	0	A	44468188	G	A	44468188	3	1	81	1	0	0	0	0	1	0	0	0	14746	1203	42	2	1079	2	SLC6A9	1	44468188	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	10175	44468188	204782433	452	4068											
SLC6A9	6536	broad.mit.edu	37	1	44476507	44476507	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:44476507T>C	ENST00000372310.3	-	3	243	c.78A>G	c.(76-78)aaA>aaG	p.K26K	SLC6A9_ENST00000372307.3_5'UTR|SLC6A9_ENST00000372306.3_Silent_p.K26K|SLC6A9_ENST00000475075.2_Intron|SLC6A9_ENST00000492434.2_5'UTR|SLC6A9_ENST00000537678.1_Intron|SLC6A9_ENST00000357730.2_Silent_p.K45K|SLC6A9_ENST00000360584.2_Silent_p.K99K	NM_001024845.2	NP_001020016.1	P48067	SC6A9_HUMAN	solute carrier family 6 (neurotransmitter transporter, glycine), member 9	99						integral to plasma membrane|membrane fraction	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2)	22	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			Glycine(DB00145)	AGTTGCCCCGTTTGAGGTTCT	0.587													19	37					0	0	1	0	0	C	44476507	T	C	44476507	2	2	81	1	0	0	0	0	0	0	0	1	14746	1722	60	3		3	SLC6A9	1	44476507	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	8319	44476507	204774114	453	4069											
ERI3	79033	broad.mit.edu	37	1	44687263	44687263	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:44687263G>T	ENST00000372257.2	-	9	1162	c.981C>A	c.(979-981)ggC>ggA	p.G327G	ERI3_ENST00000537474.1_Silent_p.G150G|ERI3_ENST00000372259.5_Silent_p.G212G	NM_024066.1	NP_076971.1	O43414	ERI3_HUMAN	ERI1 exoribonuclease family member 3	327						intracellular	exonuclease activity|metal ion binding|nucleic acid binding			endometrium(2)|large_intestine(2)|lung(7)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						TGAAGATGAAGCCTCGATAGG	0.527													5	34					0.00198382	0.00209725	1	1	0	T	44687263	G	T	44687263	2	4	81	1	0	0	0	0	0	0	0	1	5257	958	34	4		4	ERI3	1	44687263	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	210756	44687263	204563358	454	4070											
ERI3	79033	broad.mit.edu	37	1	44774067	44774067	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:44774067C>T	ENST00000372257.2	-	6	854	c.673G>A	c.(673-675)Gat>Aat	p.D225N	ERI3_ENST00000495828.1_5'UTR|ERI3_ENST00000537474.1_Missense_Mutation_p.D48N|ERI3_ENST00000372259.5_Missense_Mutation_p.D110N	NM_024066.1	NP_076971.1	O43414	ERI3_HUMAN	ERI1 exoribonuclease family member 3	225	Exonuclease.					intracellular	exonuclease activity|metal ion binding|nucleic acid binding			endometrium(2)|large_intestine(2)|lung(7)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						ATCCATTCATCGACCCTCTGA	0.423													97	136					0	0	1	0	0	T	44774067	C	T	44774067	3	4	81	1	0	0	0	0	1	0	0	0	5257	884	31	1	356	1	ERI3	1	44774067	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	86804	44774067	204476554	455	4071											
ERI3	79033	broad.mit.edu	37	1	44804807	44804807	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:44804807C>T	ENST00000372257.2	-	3	580	c.399G>A	c.(397-399)gcG>gcA	p.A133A	ERI3_ENST00000495828.1_5'UTR|ERI3_ENST00000537474.1_Intron	NM_024066.1	NP_076971.1	O43414	ERI3_HUMAN	ERI1 exoribonuclease family member 3	133						intracellular	exonuclease activity|metal ion binding|nucleic acid binding			endometrium(2)|large_intestine(2)|lung(7)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						ACACCATTGCCGCCATGGATG	0.547													17	191					0	0	1	0	0	T	44804807	C	T	44804807	2	4	81	1	0	0	0	0	0	0	0	1	5257	639	23	1		1	ERI3	1	44804807	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	30740	44804807	204445814	456	4072											
TMEM53	79639	broad.mit.edu	37	1	45120599	45120599	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:45120599G>A	ENST00000372237.3	-	3	629	c.466C>T	c.(466-468)Cgg>Tgg	p.R156W	TMEM53_ENST00000372244.3_Intron|TMEM53_ENST00000372243.3_Intron|TMEM53_ENST00000372235.3_Missense_Mutation_p.R126W|TMEM53_ENST00000372242.3_Intron|TMEM53_ENST00000476724.1_5'UTR	NM_024587.2	NP_078863.2	Q6P2H8	TMM53_HUMAN	transmembrane protein 53	156						integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(3)|ovary(2)|urinary_tract(1)	10	Acute lymphoblastic leukemia(166;0.155)					GCCAGGGCCCGCAGAGCCCCT	0.677													8	10					0	0	1	0	0	A	45120599	G	A	45120599	3	1	81	1	0	0	0	0	1	0	0	0	16239	1086	38	1	371	1	TMEM53	1	45120599	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	315792	45120599	204130022	457	4073											
KIF2C	11004	broad.mit.edu	37	1	45227592	45227592	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:45227592C>T	ENST00000372217.1	+	16	1877	c.1526C>T	c.(1525-1527)gCc>gTc	p.A509V	KIF2C_ENST00000372218.4_Missense_Mutation_p.A522V|RP11-269F19.2_ENST00000428791.1_RNA|RP11-269F19.2_ENST00000440985.1_RNA|KIF2C_ENST00000372222.3_Missense_Mutation_p.A450V|KIF2C_ENST00000372224.4_Missense_Mutation_p.A563V			Q99661	KIF2C_HUMAN	kinesin family member 2C	563	Kinesin-motor.				blood coagulation|cell division|cell proliferation|chromosome segregation|establishment or maintenance of microtubule cytoskeleton polarity|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|kinesin complex|microtubule|nucleus	ATP binding|centromeric DNA binding|microtubule motor activity|microtubule plus-end binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(1)|skin(1)|urinary_tract(1)	34	Acute lymphoblastic leukemia(166;0.155)					TTGCAGATTGCCACGATCTCA	0.507													23	65					0	0	1	0	0	T	45227592	C	T	45227592	3	4	81	1	0	0	0	0	1	0	0	0	8341	739	26	2	1754	2	KIF2C	1	45227592	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	106993	45227592	204023029	458	4074											
PLK3	1263	broad.mit.edu	37	1	45270140	45270140	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:45270140A>G	ENST00000372201.4	+	12	1711	c.1472A>G	c.(1471-1473)gAt>gGt	p.D491G	PLK3_ENST00000465443.1_3'UTR	NM_004073.2	NP_004064.2	Q9H4B4	PLK3_HUMAN	polo-like kinase 3	491	POLO box 1.		D -> N (in dbSNP:rs17855444).			membrane	ATP binding|protein binding|protein serine/threonine kinase activity			endometrium(4)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.155)					CTCTTCAACGATGGCACACAT	0.557													20	48					0	0	1	0	0	G	45270140	A	G	45270140	3	3	81	1	0	0	0	0	1	0	0	0	12145	333	12	3	1518	3	PLK3	1	45270140	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	42548	45270140	203980481	459	4075											
HECTD3	79654	broad.mit.edu	37	1	45475919	45475919	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:45475919T>C	ENST00000372172.4	-	3	648	c.577A>G	c.(577-579)Aga>Gga	p.R193G		NM_024602.5	NP_078878.3	Q5T447	HECD3_HUMAN	HECT domain containing E3 ubiquitin protein ligase 3	193					proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm	ubiquitin-protein ligase activity			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|stomach(1)	28	Acute lymphoblastic leukemia(166;0.155)					GGCTGAGGTCTCGATCCCAGG	0.597													12	33					0	0	1	0	0	C	45475919	T	C	45475919	3	2	81	1	0	0	0	0	1	0	0	0	7082	1559	54	3	2084	3	HECTD3	1	45475919	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	205779	45475919	203774702	460	4076											
ZSWIM5	57643	broad.mit.edu	37	1	45501950	45501950	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:45501950G>T	ENST00000359600.5	-	9	2121	c.1916C>A	c.(1915-1917)cCt>cAt	p.P639H		NM_020883.1	NP_065934.1	Q9P217	ZSWM5_HUMAN	zinc finger, SWIM-type containing 5	639							zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|liver(1)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					CTGGTACACAGGGGGTCTGCT	0.478													17	41					1.5739e-10	1.93127e-10	1	1	0	T	45501950	G	T	45501950	3	4	81	1	0	0	0	0	1	0	0	0	18284	1000	35	4	1665	4	ZSWIM5	1	45501950	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	26031	45501950	203748671	461	4077											
TOE1	114034	broad.mit.edu	37	1	45807687	45807687	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:45807687G>A	ENST00000372090.5	+	5	983	c.400G>A	c.(400-402)Gaa>Aaa	p.E134K	TOE1_ENST00000495703.1_3'UTR|TOE1_ENST00000539779.1_Missense_Mutation_p.E54K	NM_025077.3	NP_079353.3	Q96GM8	TOE1_HUMAN	target of EGR1, member 1 (nuclear)	134						nuclear speck|nucleolus	nucleic acid binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	11	Acute lymphoblastic leukemia(166;0.155)					GTATGTCATAGAACCAAAGTC	0.468													19	42					0	0	1	0	0	A	45807687	G	A	45807687	3	1	81	1	0	0	0	0	1	0	0	0	16409	943	33	2	418	2	TOE1	1	45807687	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	305737	45807687	203442934	462	4078											
PRDX1	5052	broad.mit.edu	37	1	45977087	45977087	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:45977087C>T	ENST00000262746.1	-	6	854		c.e6-1		PRDX1_ENST00000372079.1_Splice_Site|PRDX1_ENST00000319248.8_Splice_Site	NM_002574.3|NM_181696.2	NP_002565.1|NP_859047.1	Q06830	PRDX1_HUMAN	peroxiredoxin 1						cell proliferation|cell redox homeostasis|hydrogen peroxide catabolic process|skeletal system development	melanosome|mitochondrion|nucleus	protein binding|thioredoxin peroxidase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|skin(1)	12	Acute lymphoblastic leukemia(166;0.155)					GCTGGGCACACTGCAAGAGAA	0.468													19	170					0	0	1	0	0	T	45977087	C	T	45977087	5	4	81	1	0	0	0	0	0	0	1	0	12516	579	20	2	89	2	PRDX1	1	45977087	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	169400	45977087	203273534	463	4079											
PRDX1	5052	broad.mit.edu	37	1	45981480	45981480	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:45981480C>T	ENST00000262746.1	-	3	446		c.e3-1		PRDX1_ENST00000483583.1_Splice_Site|PRDX1_ENST00000372079.1_Intron|PRDX1_ENST00000319248.8_Splice_Site	NM_002574.3|NM_181696.2	NP_002565.1|NP_859047.1	Q06830	PRDX1_HUMAN	peroxiredoxin 1						cell proliferation|cell redox homeostasis|hydrogen peroxide catabolic process|skeletal system development	melanosome|mitochondrion|nucleus	protein binding|thioredoxin peroxidase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|skin(1)	12	Acute lymphoblastic leukemia(166;0.155)					ACATATTTTCCTGGGGGGAAA	0.403													26	30					0	0	1	0	0	T	45981480	C	T	45981480	5	4	81	1	0	0	0	0	0	0	1	0	12516	695	24	2	509	2	PRDX1	1	45981480	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	4393	45981480	203269141	464	4080											
AKR1A1	10327	broad.mit.edu	37	1	46032281	46032281	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:46032281G>A	ENST00000372070.3	+	4	872	c.125G>A	c.(124-126)cGc>cAc	p.R42H	AKR1A1_ENST00000351829.4_Missense_Mutation_p.R42H|AKR1A1_ENST00000471651.1_Missense_Mutation_p.R42H	NM_001202413.1|NM_001202414.1|NM_006066.3	NP_001189342.1|NP_001189343.1|NP_006057.1	P14550	AK1A1_HUMAN	aldo-keto reductase family 1, member A1 (aldehyde reductase)	42					glucose metabolic process		alditol:NADP+ 1-oxidoreductase activity|electron carrier activity|protein binding			lung(3)|prostate(1)|urinary_tract(1)	5	Acute lymphoblastic leukemia(166;0.155)					GTAGGCTACCGCCACATTGAT	0.517													48	58					0	0	1	0	0	A	46032281	G	A	46032281	3	1	81	1	0	0	0	0	1	0	0	0	462	1087	38	1	131	1	AKR1A1	1	46032281	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	50801	46032281	203218340	465	4081											
AKR1A1	10327	broad.mit.edu	37	1	46034284	46034284	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:46034284T>C	ENST00000372070.3	+	7	1427	c.680T>C	c.(679-681)gTc>gCc	p.V227A	AKR1A1_ENST00000351829.4_Missense_Mutation_p.V227A|AKR1A1_ENST00000473038.1_Intron	NM_001202413.1|NM_001202414.1|NM_006066.3	NP_001189342.1|NP_001189343.1|NP_006057.1	P14550	AK1A1_HUMAN	aldo-keto reductase family 1, member A1 (aldehyde reductase)	227					glucose metabolic process		alditol:NADP+ 1-oxidoreductase activity|electron carrier activity|protein binding			lung(3)|prostate(1)|urinary_tract(1)	5	Acute lymphoblastic leukemia(166;0.155)					GATGAGCCTGTCCTGCTGGAG	0.557													20	30					0	0	1	0	0	C	46034284	T	C	46034284	3	2	81	1	0	0	0	0	1	0	0	0	462	1667	58	3	698	3	AKR1A1	1	46034284	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	2003	46034284	203216337	466	4082											
GPBP1L1	60313	broad.mit.edu	37	1	46099286	46099286	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:46099286T>C	ENST00000355105.3	-	10	2279	c.919A>G	c.(919-921)Agc>Ggc	p.S307G	GPBP1L1_ENST00000479235.1_5'UTR|GPBP1L1_ENST00000290795.3_Missense_Mutation_p.S307G	NM_021639.4	NP_067652.1	Q9HC44	GPBL1_HUMAN	GC-rich promoter binding protein 1-like 1	307					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding		GPBP1L1/MAST2_ENST00000361297(2)	breast(1)|endometrium(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|stomach(1)	21	Acute lymphoblastic leukemia(166;0.155)					CGAGAGGAGCTGATCTCAATT	0.517													12	18					0	0	1	0	0	C	46099286	T	C	46099286	3	2	81	1	0	0	0	0	1	0	0	0	6636	1580	55	3	521	3	GPBP1L1	1	46099286	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	65002	46099286	203151335	467	4083											
GPBP1L1	60313	broad.mit.edu	37	1	46099832	46099832	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:46099832C>T	ENST00000355105.3	-	9	2181	c.821G>A	c.(820-822)aGt>aAt	p.S274N	GPBP1L1_ENST00000479235.1_5'UTR|GPBP1L1_ENST00000290795.3_Missense_Mutation_p.S274N	NM_021639.4	NP_067652.1	Q9HC44	GPBL1_HUMAN	GC-rich promoter binding protein 1-like 1	274					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding		GPBP1L1/MAST2_ENST00000361297(2)	breast(1)|endometrium(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|stomach(1)	21	Acute lymphoblastic leukemia(166;0.155)					AGAGATTGGACTGGTAAAAGC	0.483													28	41					0	0	1	0	0	T	46099832	C	T	46099832	3	4	81	1	0	0	0	0	1	0	0	0	6636	565	20	2	623	2	GPBP1L1	1	46099832	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	546	46099832	203150789	468	4084											
MAST2	23139	broad.mit.edu	37	1	46295224	46295224	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:46295224C>T	ENST00000361297.2	+	3	722	c.439C>T	c.(439-441)Cag>Tag	p.Q147*	MAST2_ENST00000372009.2_Nonsense_Mutation_p.Q147*	NM_015112.2	NP_055927.2	Q6P0Q8	MAST2_HUMAN	microtubule associated serine/threonine kinase 2	147					regulation of interleukin-12 biosynthetic process|spermatid differentiation	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity			breast(1)|lung(3)|ovary(5)|stomach(2)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)					GTCCCTTGGACAGTCTGCACC	0.458													6	56					0	0	1	0	0	T	46295224	C	T	46295224	4	4	81	1	0	0	0	0	0	1	0	0	9375	479	17	2	449	2	MAST2	1	46295224	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	195392	46295224	202955397	469	4085											
RAD54L	8438	broad.mit.edu	37	1	46738396	46738396	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:46738396C>T	ENST00000371975.4	+	12	1971	c.1297C>T	c.(1297-1299)Ccg>Tcg	p.P433S	RAD54L_ENST00000442598.1_Missense_Mutation_p.P433S|RAD54L_ENST00000473251.1_3'UTR	NM_003579.3	NP_003570.2	Q92698	RAD54_HUMAN	RAD54-like (S. cerevisiae)	433					meiosis	nucleus	ATP binding|DNA binding|helicase activity			breast(2)|cervix(1)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	25	Acute lymphoblastic leukemia(166;0.155)	Breast(1374;0.0634)		KIRC - Kidney renal clear cell carcinoma(1967;0.000896)		ACAAGCCAAACCGGCAGAAGA	0.493								Direct reversal of damage;Homologous recombination					37	42					0	0	1	0	0	T	46738396	C	T	46738396	3	4	81	1	0	0	0	0	1	0	0	0	13045	507	18	2	1343	2	RAD54L	1	46738396	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	443172	46738396	202512225	470	4086											
RAD54L	8438	broad.mit.edu	37	1	46740290	46740290	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:46740290G>A	ENST00000371975.4	+	16	2444	c.1770G>A	c.(1768-1770)atG>atA	p.M590I	RAD54L_ENST00000442598.1_Missense_Mutation_p.M590I	NM_003579.3	NP_003570.2	Q92698	RAD54_HUMAN	RAD54-like (S. cerevisiae)	590	Helicase C-terminal.				meiosis	nucleus	ATP binding|DNA binding|helicase activity			breast(2)|cervix(1)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	25	Acute lymphoblastic leukemia(166;0.155)	Breast(1374;0.0634)		KIRC - Kidney renal clear cell carcinoma(1967;0.000896)		GGCTGGTCATGTTTGACCCTG	0.537								Direct reversal of damage;Homologous recombination					30	37					0	0	1	0	0	A	46740290	G	A	46740290	3	1	81	1	0	0	0	0	1	0	0	0	13045	1377	48	2	1832	2	RAD54L	1	46740290	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1894	46740290	202510331	471	4087											
LRRC41	10489	broad.mit.edu	37	1	46745251	46745251	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:46745251G>A	ENST00000343304.6	-	8	2341	c.2056C>T	c.(2056-2058)Cgc>Tgc	p.R686C	LRRC41_ENST00000472710.1_5'UTR	NM_006369.4	NP_006360.3	Q15345	LRC41_HUMAN	leucine rich repeat containing 41	686										breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					TGGGCTGGGCGCTTCTCAAAC	0.557													49	99					0	0	1	0	0	A	46745251	G	A	46745251	3	1	81	1	0	0	0	0	1	0	0	0	9044	1087	38	1	394	1	LRRC41	1	46745251	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	4961	46745251	202505370	472	4088											
LRRC41	10489	broad.mit.edu	37	1	46751289	46751289	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:46751289A>G	ENST00000343304.6	-	4	1525	c.1240T>C	c.(1240-1242)Tat>Cat	p.Y414H	LRRC41_ENST00000472710.1_5'UTR	NM_006369.4	NP_006360.3	Q15345	LRC41_HUMAN	leucine rich repeat containing 41	414										breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					ACGAAGTCATACAGGTCTTCA	0.562													28	75					0	0	1	0	0	G	46751289	A	G	46751289	3	3	81	1	0	0	0	0	1	0	0	0	9044	391	14	3	1226	3	LRRC41	1	46751289	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	6038	46751289	202499332	473	4089											
LRRC41	10489	broad.mit.edu	37	1	46751494	46751495	+	Frame_Shift_Ins	INS	-	-	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:46751494_46751495insG	ENST00000343304.6	-	4	1319_1320	c.1034_1035insC	c.(1033-1035)ccafs	p.P345fs	LRRC41_ENST00000472710.1_5'UTR	NM_006369.4	NP_006360.3	Q15345	LRC41_HUMAN	leucine rich repeat containing 41	345										breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					GGGAGGTGGCTGGGGGGTGCAG	0.619													18	49	---	---	---	---						G	46751495	-	G	46751494	7	5	81	1	0	1	1	0	0	0	0	0	9044	1567	55	0	1431	0	LRRC41	1	46751494	Frame_Shift_Ins	INS	-	TCGA-DU-6392-01A-11D-1705-08	205	46751494	202499127	474	4090											
LRRC41	10489	broad.mit.edu	37	1	46764040	46764040	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:46764040G>T	ENST00000343304.6	-	2	487	c.202C>A	c.(202-204)Ctc>Atc	p.L68I	LRRC41_ENST00000472710.1_5'UTR	NM_006369.4	NP_006360.3	Q15345	LRC41_HUMAN	leucine rich repeat containing 41	68										breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					GGGCCTGGGAGGGCTACAAAA	0.423													20	26					3.51602e-12	4.38715e-12	1	1	0	T	46764040	G	T	46764040	3	4	81	1	0	0	0	0	1	0	0	0	9044	1000	35	4	2272	4	LRRC41	1	46764040	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	12546	46764040	202486581	475	4091											
UQCRH	7388	broad.mit.edu	37	1	46774775	46774775	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:46774775G>T	ENST00000311672.5	+	2	193	c.57G>T	c.(55-57)gaG>gaT	p.E19D	UQCRH_ENST00000486951.1_3'UTR	NM_001089591.1|NM_006004.2	NP_001083060.1|NP_005995.2	P07919	QCR6_HUMAN	ubiquinol-cytochrome c reductase hinge protein	19	Poly-Glu.				aerobic respiration|mitochondrial electron transport, ubiquinol to cytochrome c		ubiquinol-cytochrome-c reductase activity			large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	4	Acute lymphoblastic leukemia(166;0.155)					TTTTGTAGGAGGAAGAGGAAG	0.358													22	30					2.89027e-11	3.57291e-11	1	1	0	T	46774775	G	T	46774775	3	4	81	1	0	0	0	0	1	0	0	0	17082	991	35	4	63	4	UQCRH	1	46774775	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	10735	46774775	202475846	476	4092											
FAAH	2166	broad.mit.edu	37	1	46871725	46871725	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:46871725G>T	ENST00000243167.8	+	6	885	c.801G>T	c.(799-801)aaG>aaT	p.K267N	FAAH_ENST00000493735.1_3'UTR	NM_001441.2	NP_001432.2	O00519	FAAH1_HUMAN	fatty acid amide hydrolase	267					fatty acid catabolic process	cytoplasm|cytoskeleton|endomembrane system|integral to membrane|organelle membrane	carbon-nitrogen ligase activity, with glutamine as amido-N-donor|fatty acid amide hydrolase activity			breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	22	Acute lymphoblastic leukemia(166;0.155)				Propofol(DB00818)|Thiopental(DB00599)	GTGGCCTGAAGGGCTGTGTCT	0.612											OREG0013458	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	25	47					2.48779e-11	3.08063e-11	1	1	0	T	46871725	G	T	46871725	3	4	81	1	0	0	0	0	1	0	0	0	5384	991	35	4	823	4	FAAH	1	46871725	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	96950	46871725	202378896	477	4093											
KNCN	148930	broad.mit.edu	37	1	47016788	47016788	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:47016788A>G	ENST00000481882.2	-	1	411	c.100T>C	c.(100-102)Tcc>Ccc	p.S34P	KNCN_ENST00000396314.3_Missense_Mutation_p.S34P|MKNK1-AS1_ENST00000602433.1_RNA			A6PVL3	KNCN_HUMAN	kinocilin	34						integral to membrane				central_nervous_system(1)|endometrium(1)|lung(1)|ovary(1)	4	Acute lymphoblastic leukemia(166;0.155)					GCAGCCTTGGATACGGAGATG	0.627													5	49					0	0	1	0	0	G	47016788	A	G	47016788	3	3	81	1	0	0	0	0	1	0	0	0	8468	333	12	3	217	3	KNCN	1	47016788	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	145063	47016788	202233833	478	4094											
MKNK1	8569	broad.mit.edu	37	1	47030791	47030791	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:47030791G>T	ENST00000371946.4	-	10	853	c.690C>A	c.(688-690)atC>atA	p.I230I	MKNK1_ENST00000371945.4_Silent_p.I189I|MKNK1_ENST00000341183.5_Silent_p.I189I|MKNK1-AS1_ENST00000602433.1_RNA|MKNK1_ENST00000428112.2_Silent_p.I189I|MKNK1_ENST00000371944.4_Silent_p.I94I	NM_003684.5	NP_003675.2	Q9BUB5	MKNK1_HUMAN	MAP kinase interacting serine/threonine kinase 1	230	Protein kinase.				intracellular protein kinase cascade|peptidyl-serine phosphorylation|regulation of translation	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	13	Acute lymphoblastic leukemia(166;0.155)					CAAAGTCACAGATTTTCACTG	0.512													26	139					7.76418e-22	1.01822e-21	1	1	0	T	47030791	G	T	47030791	2	4	81	1	0	0	0	0	0	0	0	1	9652	932	33	4		4	MKNK1	1	47030791	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	14003	47030791	202219830	479	4095											
ATPAF1	64756	broad.mit.edu	37	1	47101574	47101574	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:47101574G>T	ENST00000576409.1	-	9	992	c.930C>A	c.(928-930)acC>acA	p.T310T	ATPAF1_ENST00000532925.1_Silent_p.T199T|ATPAF1_ENST00000542495.1_Silent_p.T136T|ATPAF1_ENST00000329231.4_Silent_p.T242T|ATPAF1_ENST00000371937.4_Silent_p.T287T|ATPAF1_ENST00000574428.1_Silent_p.T219T			Q5TC12	ATPF1_HUMAN	ATP synthase mitochondrial F1 complex assembly factor 1	287					protein complex assembly	mitochondrion	protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(4)	8	Acute lymphoblastic leukemia(166;0.155)					CTAACCCGTAGGTCTCTTTCC	0.443													18	216					5.03518e-11	6.21509e-11	1	1	0	T	47101574	G	T	47101574	2	4	81	1	0	0	0	0	0	0	0	1	1198	987	35	4		4	ATPAF1	1	47101574	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	70783	47101574	202149047	480	4096											
CYP4B1	1580	broad.mit.edu	37	1	47279658	47279658	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:47279658A>G	ENST00000271153.4	+	6	731	c.695A>G	c.(694-696)cAt>cGt	p.H232R	CYP4B1_ENST00000371923.4_Missense_Mutation_p.H233R|CYP4B1_ENST00000371919.4_Missense_Mutation_p.H218R|CYP4B1_ENST00000452782.2_Missense_Mutation_p.H70R			P13584	CP4B1_HUMAN	cytochrome P450, family 4, subfamily B, polypeptide 1	232					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	36	Acute lymphoblastic leukemia(166;0.155)					TTCCAGTACCATAATGACTTC	0.587													15	125					0	0	1	0	0	G	47279658	A	G	47279658	3	3	81	1	0	0	0	0	1	0	0	0	4208	217	8	3	720	3	CYP4B1	1	47279658	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	178084	47279658	201970963	481	4097											
CYP4B1	1580	broad.mit.edu	37	1	47283692	47283692	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:47283692C>T	ENST00000271153.4	+	10	1296	c.1260C>T	c.(1258-1260)ccC>ccT	p.P420P	CYP4B1_ENST00000371923.4_Silent_p.P421P|CYP4B1_ENST00000371919.4_Silent_p.P406P|CYP4B1_ENST00000452782.2_Silent_p.P258P			P13584	CP4B1_HUMAN	cytochrome P450, family 4, subfamily B, polypeptide 1	420					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	p.P420P(1)		NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	36	Acute lymphoblastic leukemia(166;0.155)					CTGTATGGCCCGACCCTGAGG	0.582													45	92					0	0	1	0	0	T	47283692	C	T	47283692	2	4	81	1	0	0	0	0	0	0	0	1	4208	639	23	1		1	CYP4B1	1	47283692	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	4034	47283692	201966929	482	4098											
CYP4X1	260293	broad.mit.edu	37	1	47501531	47501531	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:47501531G>T	ENST00000371901.3	+	5	796	c.546G>T	c.(544-546)gaG>gaT	p.E182D	CYP4X1_ENST00000538609.1_Missense_Mutation_p.E181D	NM_178033.1	NP_828847.1	Q8N118	CP4X1_HUMAN	cytochrome P450, family 4, subfamily X, polypeptide 1	182						endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	17						AGGTCTATGAGCACATCAACT	0.483													20	28					8.04996e-18	1.041e-17	1	1	0	T	47501531	G	T	47501531	3	4	81	1	0	0	0	0	1	0	0	0	4216	962	34	4	564	4	CYP4X1	1	47501531	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	217839	47501531	201749090	483	4099											
CYP4X1	260293	broad.mit.edu	37	1	47501745	47501745	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:47501745G>A	ENST00000371901.3	+	6	927	c.677G>A	c.(676-678)cGc>cAc	p.R226H	CYP4X1_ENST00000538609.1_Missense_Mutation_p.R225H	NM_178033.1	NP_828847.1	Q8N118	CP4X1_HUMAN	cytochrome P450, family 4, subfamily X, polypeptide 1	226						endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	17						ATATTTCACCGCTTGTACAGT	0.393													68	81					0	0	1	0	0	A	47501745	G	A	47501745	3	1	81	1	0	0	0	0	1	0	0	0	4216	1087	38	1	699	1	CYP4X1	1	47501745	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	214	47501745	201748876	484	4100											
CYP4Z1	199974	broad.mit.edu	37	1	47548008	47548008	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:47548008C>T	ENST00000334194.3	+	4	370	c.367C>T	c.(367-369)Cga>Tga	p.R123*		NM_178134.2	NP_835235.1	Q86W10	CP4Z1_HUMAN	cytochrome P450, family 4, subfamily Z, polypeptide 1	123						endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			cervix(1)|large_intestine(4)|lung(4)|skin(1)|stomach(1)	11						TTCATAAGGTCGAGGACTTGT	0.448													17	31					0	0	1	0	0	T	47548008	C	T	47548008	4	4	81	1	0	0	0	0	0	1	0	0	4217	876	31	1	381	1	CYP4Z1	1	47548008	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	46263	47548008	201702613	485	4101											
CYP4A22	284541	broad.mit.edu	37	1	47603166	47603166	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:47603166C>A	ENST00000371891.3	+	1	40	c.9C>A	c.(7-9)gtC>gtA	p.V3V	CYP4A22-AS1_ENST00000444042.2_lincRNA|CYP4A22_ENST00000371890.3_Silent_p.V3V|CYP4A22_ENST00000294337.3_Silent_p.V3V|CYP4A22_ENST00000485117.1_3'UTR	NM_001010969.2	NP_001010969.2	Q5TCH4	CP4AM_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 22	3						endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CCATGAGTGTCTCTGTCCTGA	0.602													37	58					1.30998e-17	1.69175e-17	1	1	0	A	47603166	C	A	47603166	2	1	81	1	0	0	0	0	0	0	0	1	4207	900	32	4		4	CYP4A22	1	47603166	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	55158	47603166	201647455	486	4102											
TAL1	6886	broad.mit.edu	37	1	47689770	47689770	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:47689770G>A	ENST00000294339.3	-	3	1023	c.447C>T	c.(445-447)agC>agT	p.S149S	TAL1_ENST00000371884.2_Splice_Site_p.S149S|TAL1_ENST00000371883.3_Silent_p.S151S	NM_003189.2	NP_003180.1	P17542	TAL1_HUMAN	T-cell acute lymphocytic leukemia 1	149					basophil differentiation|cell fate commitment|cell proliferation|embryonic hemopoiesis|erythrocyte differentiation|megakaryocyte differentiation|positive regulation of cell division|positive regulation of chromatin assembly or disassembly|positive regulation of erythrocyte differentiation|positive regulation of mitotic cell cycle|positive regulation of protein complex assembly|positive regulation of transcription from RNA polymerase II promoter	nuclear chromatin	E-box binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity			haematopoietic_and_lymphoid_tissue(1)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	15						CAAAGAACCCGCTGTGGGAGG	0.557			T	"TRD@, SIL"	lymphoblastic leukemia/biphasic								30	48					0	0	1	0	0	A	47689770	G	A	47689770	5	1	81	1	0	0	0	0	0	0	1	0	15598	1101	38	1	556	1	TAL1	1	47689770	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	86604	47689770	201560851	487	4103											
STIL	6491	broad.mit.edu	37	1	47725975	47725975	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:47725975G>T	ENST00000360380.3	-	17	3426	c.3063C>A	c.(3061-3063)aaC>aaA	p.N1021K	STIL_ENST00000371877.3_Missense_Mutation_p.N1022K|STIL_ENST00000396221.2_Missense_Mutation_p.N1004K|STIL_ENST00000243182.6_Missense_Mutation_p.N1021K|STIL_ENST00000337817.5_Missense_Mutation_p.N1021K	NM_001282936.1	NP_001269865.1	Q15468	STIL_HUMAN	SCL/TAL1 interrupting locus	1021					cell proliferation|multicellular organismal development	centrosome|cytosol				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	36		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)				CGTGATCCACGTTATGTGCAT	0.308													22	43					9.95505e-16	1.27256e-15	1	1	0	T	47725975	G	T	47725975	3	4	81	1	0	0	0	0	1	0	0	0	15338	1136	40	5	808	5	STIL	1	47725975	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	36205	47725975	201524646	488	4104											
STIL	6491	broad.mit.edu	37	1	47767270	47767270	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:47767270A>G	ENST00000360380.3	-	6	779	c.416T>C	c.(415-417)aTa>aCa	p.I139T	STIL_ENST00000371877.3_Missense_Mutation_p.I139T|STIL_ENST00000396221.2_Missense_Mutation_p.I139T|STIL_ENST00000243182.6_Missense_Mutation_p.I139T|STIL_ENST00000337817.5_Missense_Mutation_p.I139T	NM_001282936.1	NP_001269865.1	Q15468	STIL_HUMAN	SCL/TAL1 interrupting locus	139					cell proliferation|multicellular organismal development	centrosome|cytosol				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	36		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)				ACTGTGAACTATCATTTCTCT	0.368													9	80					0	0	1	0	0	G	47767270	A	G	47767270	3	3	81	1	0	0	0	0	1	0	0	0	15338	449	16	3	3502	3	STIL	1	47767270	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	41295	47767270	201483351	489	4105											
CMPK1	51727	broad.mit.edu	37	1	47834233	47834233	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:47834233C>T	ENST00000371873.5	+	2	413	c.264C>T	c.(262-264)taC>taT	p.Y88Y	CMPK1_ENST00000450808.2_Intron	NM_001136140.1|NM_016308.2	NP_001129612.1|NP_057392.1	P30085	KCY_HUMAN	cytidine monophosphate (UMP-CMP) kinase 1, cytosolic	56					nucleobase, nucleoside and nucleotide interconversion	cytosol|nucleus	ATP binding|cytidylate kinase activity|nucleoside phosphate kinase activity|uridine kinase activity			endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|stomach(2)	8					Gemcitabine(DB00441)	TTGAAAAGTACATTAAAGAAG	0.403													20	44					0	0	1	0	0	T	47834233	C	T	47834233	2	4	81	1	0	0	0	0	0	0	0	1	3603	489	17	2		2	CMPK1	1	47834233	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	66963	47834233	201416388	490	4106											
CMPK1	51727	broad.mit.edu	37	1	47842396	47842396	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:47842396G>T	ENST00000371873.5	+	6	815	c.666G>T	c.(664-666)caG>caT	p.Q222H	CMPK1_ENST00000450808.2_Missense_Mutation_p.Q173H	NM_001136140.1|NM_016308.2	NP_001129612.1|NP_057392.1	P30085	KCY_HUMAN	cytidine monophosphate (UMP-CMP) kinase 1, cytosolic	190					nucleobase, nucleoside and nucleotide interconversion	cytosol|nucleus	ATP binding|cytidylate kinase activity|nucleoside phosphate kinase activity|uridine kinase activity			endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|stomach(2)	8					Gemcitabine(DB00441)	AAGTTGTGCAGATTTTTGACA	0.318													6	31					0.00198382	0.00209725	1	1	0	T	47842396	G	T	47842396	3	4	81	1	0	0	0	0	1	0	0	0	3603	933	33	4	688	4	CMPK1	1	47842396	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	8163	47842396	201408225	491	4107											
SLC5A9	200010	broad.mit.edu	37	1	48697656	48697656	+	Missense_Mutation	SNP	C	C	T	rs149962239	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:48697656C>T	ENST00000236495.5	+	8	855	c.805C>T	c.(805-807)Cgg>Tgg	p.R269W	SLC5A9_ENST00000420136.2_Intron|SLC5A9_ENST00000438567.2_Missense_Mutation_p.R244W|SLC5A9_ENST00000533824.1_Missense_Mutation_p.R265W	NM_001135181.1	NP_001128653.1	Q2M3M2	SC5A9_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 9	244			I -> M (in dbSNP:rs212991).			integral to membrane|plasma membrane	low-affinity glucose:sodium symporter activity			breast(1)|endometrium(3)|large_intestine(4)|liver(2)|lung(11)|ovary(3)|prostate(1)|urinary_tract(1)	26						CCTGGAGCAGCGGTACAGGCA	0.612													25	58					0	0	1	0	0	T	48697656	C	T	48697656	3	4	81	1	0	0	0	0	1	0	0	0	14727	759	27	1	835	1	SLC5A9	1	48697656	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	855260	48697656	200552965	492	4108											
BEND5	79656	broad.mit.edu	37	1	49224836	49224836	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:49224836C>T	ENST00000371833.3	-	3	567	c.481G>A	c.(481-483)Gtg>Atg	p.V161M	AGBL4_ENST00000371838.1_Intron|BEND5_ENST00000476096.1_5'UTR|AGBL4_ENST00000371839.1_Intron	NM_024603.2	NP_078879.2	Q7L4P6	BEND5_HUMAN	BEN domain containing 5	161										large_intestine(5)|lung(2)|skin(1)	8						GAGGCCTCCACGAAGACCTCT	0.612													7	13					0	0	1	0	0	T	49224836	C	T	49224836	3	4	81	1	0	0	0	0	1	0	0	0	1399	536	19	1	800	1	BEND5	1	49224836	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	527180	49224836	200025785	493	4109											
ELAVL4	1996	broad.mit.edu	37	1	50642804	50642804	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:50642804G>T	ENST00000371824.1	+	3	551	c.294G>T	c.(292-294)aaG>aaT	p.K98N	ELAVL4_ENST00000371819.1_Missense_Mutation_p.K103N|ELAVL4_ENST00000371827.1_Missense_Mutation_p.K98N|ELAVL4_ENST00000371821.1_Missense_Mutation_p.K103N|ELAVL4_ENST00000492299.1_3'UTR|ELAVL4_ENST00000371823.4_Missense_Mutation_p.K98N|ELAVL4_ENST00000357083.4_Missense_Mutation_p.K115N|ELAVL4_ENST00000448907.2_Missense_Mutation_p.K101N			P26378	ELAV4_HUMAN	ELAV like neuron-specific RNA binding protein 4	98	RRM 1.				mRNA processing		AU-rich element binding|mRNA 3'-UTR binding|nucleotide binding			NS(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	32						TTGATCCAAAGGATGCAGAGA	0.423													8	53					3.09899e-07	3.60815e-07	1	1	0	T	50642804	G	T	50642804	3	4	81	1	0	0	0	0	1	0	0	0	5080	991	35	4	403	4	ELAVL4	1	50642804	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1417968	50642804	198607817	494	4110											
FAF1	11124	broad.mit.edu	37	1	51061795	51061795	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:51061795C>T	ENST00000396153.2	-	9	1289	c.838G>A	c.(838-840)Gaa>Aaa	p.E280K	FAF1_ENST00000545823.1_Missense_Mutation_p.E38K|FAF1_ENST00000472808.1_5'UTR|FAF1_ENST00000371778.4_Missense_Mutation_p.E280K	NM_007051.2	NP_008982.1	Q9UNN5	FAF1_HUMAN	Fas (TNFRSF6) associated factor 1	280					apoptosis|cytoplasmic sequestering of NF-kappaB|positive regulation of apoptosis|positive regulation of protein complex assembly|proteasomal ubiquitin-dependent protein catabolic process|regulation of protein catabolic process	CD95 death-inducing signaling complex|cytosol|perinuclear region of cytoplasm	heat shock protein binding|NF-kappaB binding|protein kinase binding|protein kinase regulator activity	p.0?(1)		breast(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|pancreas(2)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(3;3.18e-11)|all cancers(3;0.00526)		AGGCTTACTTCTTCCGACTGT	0.488													16	13					0	0	1	0	0	T	51061795	C	T	51061795	3	4	81	1	0	0	0	0	1	0	0	0	5400	922	32	2	1158	2	FAF1	1	51061795	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	418991	51061795	198188826	495	4111											
FAF1	11124	broad.mit.edu	37	1	51210375	51210375	+	Missense_Mutation	SNP	G	G	A	rs149117642		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:51210375G>A	ENST00000396153.2	-	5	891	c.440C>T	c.(439-441)aCg>aTg	p.T147M	FAF1_ENST00000371778.4_Missense_Mutation_p.T147M	NM_007051.2	NP_008982.1	Q9UNN5	FAF1_HUMAN	Fas (TNFRSF6) associated factor 1	147					apoptosis|cytoplasmic sequestering of NF-kappaB|positive regulation of apoptosis|positive regulation of protein complex assembly|proteasomal ubiquitin-dependent protein catabolic process|regulation of protein catabolic process	CD95 death-inducing signaling complex|cytosol|perinuclear region of cytoplasm	heat shock protein binding|NF-kappaB binding|protein kinase binding|protein kinase regulator activity	p.0?(2)		breast(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|pancreas(2)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(3;3.18e-11)|all cancers(3;0.00526)		CACATCTCCCGTCTTCCAGCC	0.299													8	98					0	0	1	0	0	A	51210375	G	A	51210375	3	1	81	1	0	0	0	0	1	0	0	0	5400	1145	40	1	1572	1	FAF1	1	51210375	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	148580	51210375	198040246	496	4112											
TTC39A	22996	broad.mit.edu	37	1	51787393	51787393	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:51787393C>A	ENST00000262676.5	-	2	297	c.137G>T	c.(136-138)aGa>aTa	p.R46I	TTC39A_ENST00000262675.7_Splice_Site_p.R22I|TTC39A_ENST00000413473.2_Splice_Site_p.R53I|TTC39A_ENST00000451380.1_Splice_Site_p.R49I|TTC39A_ENST00000447632.2_Splice_Site_p.R50I|TTC39A_ENST00000371747.3_Splice_Site_p.R49I|TTC39A_ENST00000371750.5_Splice_Site_p.R50I			Q5SRH9	TT39A_HUMAN	tetratricopeptide repeat domain 39A	50							binding	p.0?(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(2)|prostate(2)|skin(3)|urinary_tract(1)	17						TGAGCCTCACCTGGGCTTGAG	0.582													8	19					0.00621372	0.00649472	1	1	0	A	51787393	C	A	51787393	5	1	81	1	0	0	0	0	0	0	1	0	16769	695	24	4	1655	4	TTC39A	1	51787393	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	577018	51787393	197463228	497	4113											
EPS15	2060	broad.mit.edu	37	1	51875340	51875340	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:51875340T>C	ENST00000371733.3	-	14	1238	c.1142A>G	c.(1141-1143)aAt>aGt	p.N381S	EPS15_ENST00000493793.1_5'UTR|EPS15_ENST00000371730.2_Missense_Mutation_p.N381S|EPS15_ENST00000396122.4_Missense_Mutation_p.N58S	NM_001981.2	NP_001972.1	P42566	EPS15_HUMAN	epidermal growth factor receptor pathway substrate 15	381					cell proliferation|clathrin coat assembly|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|protein transport	cytosol|early endosome membrane	calcium ion binding|SH3 domain binding	p.0?(2)		endometrium(3)|kidney(5)|large_intestine(8)|lung(13)|prostate(2)|skin(1)|stomach(1)|urinary_tract(2)	35						CAGATTAGTATTCTCCCTTTG	0.398			T	MLL	ALL								6	60					0	0	1	0	0	C	51875340	T	C	51875340	3	2	81	1	0	0	0	0	1	0	0	0	5220	1493	52	3	1596	3	EPS15	1	51875340	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	87947	51875340	197375281	498	4114											
NRD1	4898	broad.mit.edu	37	1	52289367	52289367	+	Silent	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:52289367A>C	ENST00000354831.7	-	9	1521	c.1332T>G	c.(1330-1332)tcT>tcG	p.S444S	NRD1_ENST00000352171.7_Silent_p.S376S|NRD1_ENST00000544028.1_Silent_p.S244S|NRD1_ENST00000539524.1_Silent_p.S312S|NRD1_ENST00000485608.1_5'UTR	NM_002525.2	NP_002516.2	O43847	NRDC_HUMAN	nardilysin (N-arginine dibasic convertase)	375					cell migration|cell proliferation|neuromuscular junction development|positive regulation of membrane protein ectodomain proteolysis|proteolysis|regulation of endopeptidase activity	cell surface|cytosol	epidermal growth factor binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)	27						TCATGTAATGAGAAGAGTAGT	0.368													5	95					0	0	1	0	0	C	52289367	A	C	52289367	2	2	81	1	0	0	0	0	0	0	0	1	10693	291	11	5		5	NRD1	1	52289367	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	414027	52289367	196961254	499	4115											
NRD1	4898	broad.mit.edu	37	1	52343976	52343976	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:52343976G>A	ENST00000354831.7	-	1	501	c.312C>T	c.(310-312)gtC>gtT	p.V104V	NRD1_ENST00000352171.7_Silent_p.V104V|NRD1_ENST00000544028.1_Intron	NM_002525.2	NP_002516.2	O43847	NRDC_HUMAN	nardilysin (N-arginine dibasic convertase)	104					cell migration|cell proliferation|neuromuscular junction development|positive regulation of membrane protein ectodomain proteolysis|proteolysis|regulation of endopeptidase activity	cell surface|cytosol	epidermal growth factor binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)	27						TGGGAGACTTGACGATCTCAG	0.612													11	30					0	0	1	0	0	A	52343976	G	A	52343976	2	1	81	1	0	0	0	0	0	0	0	1	10693	1277	45	2		2	NRD1	1	52343976	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	54609	52343976	196906645	500	4116											
CC2D1B	200014	broad.mit.edu	37	1	52825168	52825168	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:52825168C>A	ENST00000371586.2	-	9	1119	c.981G>T	c.(979-981)caG>caT	p.Q327H	CC2D1B_ENST00000460261.1_5'UTR|CC2D1B_ENST00000438831.1_5'UTR|CC2D1B_ENST00000284376.3_Missense_Mutation_p.Q327H	NM_032449.2	NP_115825.1	Q5T0F9	C2D1B_HUMAN	coiled-coil and C2 domain containing 1B	327										breast(1)|large_intestine(6)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	27						GATCCACGGGCTGCCCCTTCT	0.627													10	21					6.40141e-05	7.07494e-05	1	1	0	A	52825168	C	A	52825168	3	1	81	1	0	0	0	0	1	0	0	0	2745	796	28	4	1659	4	CC2D1B	1	52825168	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	481192	52825168	196425453	501	4117											
ZCCHC11	23318	broad.mit.edu	37	1	52903911	52903911	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:52903911C>T	ENST00000371544.3	-	25	4181	c.3919G>A	c.(3919-3921)Gac>Aac	p.D1307N	ZCCHC11_ENST00000257177.4_Missense_Mutation_p.D1307N	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11	1307					miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance	cytoplasm|nucleolus	nucleic acid binding|protein binding|RNA uridylyltransferase activity|zinc ion binding			NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						TTAGGGCAGTCTTTCATGTAG	0.368													59	84					0	0	1	0	0	T	52903911	C	T	52903911	3	4	81	1	0	0	0	0	1	0	0	0	17639	913	32	2	1042	2	ZCCHC11	1	52903911	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	78743	52903911	196346710	502	4118											
ZCCHC11	23318	broad.mit.edu	37	1	52924096	52924096	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:52924096C>A	ENST00000371544.3	-	20	3609	c.3347G>T	c.(3346-3348)aGg>aTg	p.R1116M	ZCCHC11_ENST00000257177.4_Missense_Mutation_p.R1116M	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11	1116					miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance	cytoplasm|nucleolus	nucleic acid binding|protein binding|RNA uridylyltransferase activity|zinc ion binding			NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						TAAACTTCCCCTGGAAGCATC	0.393													5	55					1.23904e-05	1.39156e-05	1	1	0	A	52924096	C	A	52924096	3	1	81	1	0	0	0	0	1	0	0	0	17639	681	24	4	1634	4	ZCCHC11	1	52924096	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	20185	52924096	196326525	503	4119											
ZCCHC11	23318	broad.mit.edu	37	1	52981602	52981602	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:52981602T>G	ENST00000371544.3	-	3	1105	c.843A>C	c.(841-843)gaA>gaC	p.E281D	ZCCHC11_ENST00000371541.1_5'UTR|ZCCHC11_ENST00000257177.4_Missense_Mutation_p.E281D|ZCCHC11_ENST00000355809.4_Missense_Mutation_p.E281D	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11	281					miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance	cytoplasm|nucleolus	nucleic acid binding|protein binding|RNA uridylyltransferase activity|zinc ion binding			NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						CTAAGCGTTCTTCTGCTTGTT	0.378													24	57					0	0	1	0	0	G	52981602	T	G	52981602	3	3	81	1	0	0	0	0	1	0	0	0	17639	1606	56	5	4206	5	ZCCHC11	1	52981602	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	57506	52981602	196269019	504	4120											
FAM159A	348378	broad.mit.edu	37	1	53122674	53122674	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:53122674T>C	ENST00000517870.1	+	3	685	c.535T>C	c.(535-537)Tct>Cct	p.S179P	FAM159A_ENST00000401050.3_Intron	NM_001042693.1	NP_001036158.1	Q6UWV7	F159A_HUMAN	family with sequence similarity 159, member A	179						integral to membrane				endometrium(3)|lung(6)|upper_aerodigestive_tract(1)	10						TGAGGAAGCCTCTGTACCCAA	0.527													20	279					0	0	1	0	0	C	53122674	T	C	53122674	3	2	81	1	0	0	0	0	1	0	0	0	5498	1551	54	3	545	3	FAM159A	1	53122674	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	141072	53122674	196127947	505	4121											
SCP2	6342	broad.mit.edu	37	1	53416537	53416537	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:53416537G>A	ENST00000371514.3	+	4	478	c.310G>A	c.(310-312)Gcc>Acc	p.A104T	SCP2_ENST00000371513.5_Intron|SCP2_ENST00000407246.2_Missense_Mutation_p.A80T|SCP2_ENST00000371509.4_Intron|SCP2_ENST00000528311.1_Missense_Mutation_p.A23T	NM_002979.4	NP_002970.2	P22307	NLTP_HUMAN	sterol carrier protein 2	104					bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase|lipid transport	mitochondrion|nucleus|peroxisomal matrix	propanoyl-CoA C-acyltransferase activity|propionyl-CoA C2-trimethyltridecanoyltransferase activity|protein binding|sterol binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	15						TTTGTTTATGGCCCGCCAGCT	0.413													55	88					0	0	1	0	0	A	53416537	G	A	53416537	3	1	81	1	0	0	0	0	1	0	0	0	13988	1203	42	2	324	2	SCP2	1	53416537	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	293863	53416537	195834084	506	4122											
PODN	127435	broad.mit.edu	37	1	53542887	53542887	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:53542887C>A	ENST00000371500.3	+	8	1035	c.694C>A	c.(694-696)Ctg>Atg	p.L232M	RP11-334A14.5_ENST00000447867.1_RNA|PODN_ENST00000395871.2_Intron|PODN_ENST00000312553.5_Missense_Mutation_p.L251M	NM_001199080.1	NP_001186009.1	Q7Z5L7	PODN_HUMAN	podocan	203					negative regulation of cell migration|negative regulation of cell proliferation	cytoplasm|extracellular space|proteinaceous extracellular matrix	collagen binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						CAACAACAAGCTGGCAGACGC	0.627													5	99					0.184627	0.18622	1	1	0	A	53542887	C	A	53542887	3	1	81	1	0	0	0	0	1	0	0	0	12226	796	28	4	773	4	PODN	1	53542887	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	126350	53542887	195707734	507	4123											
PODN	127435	broad.mit.edu	37	1	53542952	53542952	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:53542952G>A	ENST00000371500.3	+	8	1100	c.759G>A	c.(757-759)ctG>ctA	p.L253L	RP11-334A14.5_ENST00000447867.1_RNA|PODN_ENST00000395871.2_Intron|PODN_ENST00000312553.5_Silent_p.L272L	NM_001199080.1	NP_001186009.1	Q7Z5L7	PODN_HUMAN	podocan	224					negative regulation of cell migration|negative regulation of cell proliferation	cytoplasm|extracellular space|proteinaceous extracellular matrix	collagen binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						TCCTCATCCTGTCCAGCAACT	0.632													6	123					0	0	1	0	0	A	53542952	G	A	53542952	2	1	81	1	0	0	0	0	0	0	0	1	12226	1364	48	2		2	PODN	1	53542952	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	65	53542952	195707669	508	4124											
PODN	127435	broad.mit.edu	37	1	53544532	53544532	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:53544532T>C	ENST00000371500.3	+	10	1778	c.1437T>C	c.(1435-1437)ccT>ccC	p.P479P	RP11-334A14.5_ENST00000447867.1_RNA|PODN_ENST00000395871.2_Silent_p.P356P|PODN_ENST00000312553.5_Silent_p.P498P	NM_001199080.1	NP_001186009.1	Q7Z5L7	PODN_HUMAN	podocan	450					negative regulation of cell migration|negative regulation of cell proliferation	cytoplasm|extracellular space|proteinaceous extracellular matrix	collagen binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						CTGGGCTGCCTCGAAATGTCC	0.672													4	19					0	0	1	0	0	C	53544532	T	C	53544532	2	2	81	1	0	0	0	0	0	0	0	1	12226	1538	54	3		3	PODN	1	53544532	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	1580	53544532	195706089	509	4125											
SLC1A7	6512	broad.mit.edu	37	1	53580505	53580505	+	Missense_Mutation	SNP	G	G	A	rs141274422	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:53580505G>A	ENST00000371494.4	-	3	483	c.356C>T	c.(355-357)gCg>gTg	p.A119V	SLC1A7_ENST00000371491.4_Missense_Mutation_p.A119V|RP11-334A14.8_ENST00000439621.1_RNA	NM_006671.4	NP_006662.3	O00341	EAA5_HUMAN	solute carrier family 1 (glutamate transporter), member 7	119						integral to membrane|plasma membrane	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26				Colorectal(1306;0.234)	L-Glutamic Acid(DB00142)	CTTCTGGGCCGCGCTGCCTGG	0.622													19	12					0	0	1	0	0	A	53580505	G	A	53580505	3	1	81	1	0	0	0	0	1	0	0	0	14492	1087	38	1	1362	1	SLC1A7	1	53580505	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	35973	53580505	195670116	510	4126											
CPT2	1376	broad.mit.edu	37	1	53679163	53679163	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:53679163G>A	ENST00000371486.3	+	5	2388	c.1873G>A	c.(1873-1875)Gtc>Atc	p.V625I	RP5-1024G6.2_ENST00000452466.1_RNA	NM_000098.2	NP_000089.1	P23786	CPT2_HUMAN	carnitine palmitoyltransferase 2	625					carnitine shuttle|fatty acid beta-oxidation|regulation of fatty acid oxidation	mitochondrial inner membrane	carnitine O-palmitoyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	15					L-Carnitine(DB00583)|Perhexiline(DB01074)	AGGCTGCAATGTCTCTTCCTA	0.517													33	56					0	0	1	0	0	A	53679163	G	A	53679163	3	1	81	1	0	0	0	0	1	0	0	0	3857	1377	48	2	1891	2	CPT2	1	53679163	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	98658	53679163	195571458	511	4127											
GLIS1	148979	broad.mit.edu	37	1	53980441	53980441	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:53980441G>A	ENST00000312233.2	-	7	1781	c.1215C>T	c.(1213-1215)ggC>ggT	p.G405G		NM_147193.2	NP_671726.2	Q8NBF1	GLIS1_HUMAN	GLIS family zinc finger 1	405					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(3)|urinary_tract(4)	24						GGGTGATGGAGCCAGGATACA	0.607													16	21					0	0	1	0	0	A	53980441	G	A	53980441	2	1	81	1	0	0	0	0	0	0	0	1	6487	958	34	2		2	GLIS1	1	53980441	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	301278	53980441	195270180	512	4128											
GLIS1	148979	broad.mit.edu	37	1	54060032	54060032	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:54060032G>T	ENST00000312233.2	-	3	1110	c.544C>A	c.(544-546)Ctg>Atg	p.L182M		NM_147193.2	NP_671726.2	Q8NBF1	GLIS1_HUMAN	GLIS family zinc finger 1	182					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(3)|urinary_tract(4)	24						CCCAGCCCCAGGCCTCCAAGG	0.697													4	6					0.00909568	0.00944708	1	1	0	T	54060032	G	T	54060032	3	4	81	1	0	0	0	0	1	0	0	0	6487	991	35	4	1350	4	GLIS1	1	54060032	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	79591	54060032	195190589	513	4129											
YIPF1	54432	broad.mit.edu	37	1	54348857	54348857	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:54348857C>A	ENST00000072644.1	-	4	460	c.124G>T	c.(124-126)Gga>Tga	p.G42*	YIPF1_ENST00000539954.1_Nonsense_Mutation_p.G67*|YIPF1_ENST00000371399.1_De_novo_Start_OutOfFrame|YIPF1_ENST00000469457.1_Intron	NM_018982.4	NP_061855.1	Q9Y548	YIPF1_HUMAN	Yip1 domain family, member 1	42						integral to membrane|transport vesicle				endometrium(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|skin(1)|urinary_tract(2)	19						CTTGGGGATCCTGGCTGATGT	0.433													8	106					1.26484e-09	1.5311e-09	1	1	0	A	54348857	C	A	54348857	4	1	81	1	0	0	0	0	0	1	0	0	17537	690	24	4	824	4	YIPF1	1	54348857	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	288825	54348857	194901764	514	4130											
HSPB11	51668	broad.mit.edu	37	1	54395798	54395798	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:54395798G>A	ENST00000194214.5	-	3	508	c.119C>T	c.(118-120)aCc>aTc	p.T40I	HSPB11_ENST00000371376.1_Missense_Mutation_p.T40I|HSPB11_ENST00000371378.2_Missense_Mutation_p.T40I|HSPB11_ENST00000371377.3_Missense_Mutation_p.T40I	NM_016126.2	NP_057210.2	Q9Y547	HSB11_HUMAN	heat shock protein family B (small), member 11	40					cell adhesion|response to stress					breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|urinary_tract(1)	9						TCCTGTGGTGGTCCAAAACGT	0.294													35	58					0	0	1	0	0	A	54395798	G	A	54395798	3	1	81	1	0	0	0	0	1	0	0	0	7462	1261	44	2	331	2	HSPB11	1	54395798	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	46941	54395798	194854823	515	4131											
TMEM59	9528	broad.mit.edu	37	1	54518691	54518691	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:54518691G>T	ENST00000234831.5	-	1	420	c.171C>A	c.(169-171)ccC>ccA	p.P57P	TMEM59_ENST00000371337.3_Silent_p.P57P|TMEM59_ENST00000371341.1_Intron	NM_004872.3	NP_004863.2	Q9BXS4	TMM59_HUMAN	transmembrane protein 59	57						Golgi membrane|integral to membrane				kidney(3)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	7						AGGTGTGCAAGGGGTAGGTCA	0.637													22	39					1.36565e-18	1.77349e-18	1	1	0	T	54518691	G	T	54518691	2	4	81	1	0	0	0	0	0	0	0	1	16245	987	35	4		4	TMEM59	1	54518691	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	122893	54518691	194731930	516	4132											
CDCP2	200008	broad.mit.edu	37	1	54605592	54605592	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:54605592G>A	ENST00000371330.1	-	4	1798	c.951C>T	c.(949-951)gaC>gaT	p.D317D		NM_201546.2	NP_963840.2	Q5VXM1	CDCP2_HUMAN	CUB domain containing protein 2	317	CUB 3.					extracellular region				kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|stomach(1)	24						CCGCCAGATGGTCAAAGTCAC	0.637													11	19					0	0	1	0	0	A	54605592	G	A	54605592	2	1	81	1	0	0	0	0	0	0	0	1	3116	1252	44	2		2	CDCP2	1	54605592	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	86901	54605592	194645029	517	4133											
MRPL37	51253	broad.mit.edu	37	1	54678284	54678284	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:54678284C>A	ENST00000605337.1	+	5	991	c.943C>A	c.(943-945)Ctg>Atg	p.L315M	MRPL37_ENST00000336230.6_Missense_Mutation_p.L184M|MRPL37_ENST00000360840.5_Missense_Mutation_p.L315M			Q9BZE1	RM37_HUMAN	mitochondrial ribosomal protein L37	315					translation	mitochondrial ribosome	structural constituent of ribosome			NS(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(4)|skin(2)	19						CAAGATGATCCTGTTTGCTTT	0.542													13	84					2.32078e-09	2.80257e-09	1	1	0	A	54678284	C	A	54678284	3	1	81	1	0	0	0	0	1	0	0	0	9849	680	24	4	961	4	MRPL37	1	54678284	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	72692	54678284	194572337	518	4134											
MRPL37	51253	broad.mit.edu	37	1	54681864	54681864	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:54681864G>A	ENST00000605337.1	+	6	1089	c.1041G>A	c.(1039-1041)acG>acA	p.T347T	MRPL37_ENST00000336230.6_Silent_p.T216T|MRPL37_ENST00000360840.5_Silent_p.T347T			Q9BZE1	RM37_HUMAN	mitochondrial ribosomal protein L37	347					translation	mitochondrial ribosome	structural constituent of ribosome			NS(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(4)|skin(2)	19						GCGTGGGCACGGATGGACGTG	0.517													35	78					0	0	1	0	0	A	54681864	G	A	54681864	2	1	81	1	0	0	0	0	0	0	0	1	9849	1103	39	1		1	MRPL37	1	54681864	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	3580	54681864	194568757	519	4135											
ACOT11	26027	broad.mit.edu	37	1	55065012	55065012	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:55065012T>C	ENST00000371316.3	+	8	890	c.808T>C	c.(808-810)Ttc>Ctc	p.F270L	ACOT11_ENST00000481208.1_3'UTR|ACOT11_ENST00000343744.2_Missense_Mutation_p.F270L	NM_015547.3	NP_056362.1	Q8WXI4	ACO11_HUMAN	acyl-CoA thioesterase 11	270	Acyl coenzyme A hydrolase 2.				fatty acid metabolic process|intracellular signal transduction|response to cold		acyl-CoA thioesterase activity|carboxylesterase activity			NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(3)|lung(5)|ovary(1)	17						CATTGAAATGTTCCACTTCCG	0.612													9	142					0	0	1	0	0	C	55065012	T	C	55065012	3	2	81	1	0	0	0	0	1	0	0	0	149	1725	60	3	838	3	ACOT11	1	55065012	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	383148	55065012	194185609	520	4136											
ACOT11	26027	broad.mit.edu	37	1	55069583	55069583	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:55069583C>A	ENST00000371316.3	+	11	1207	c.1125C>A	c.(1123-1125)ctC>ctA	p.L375L	ACOT11_ENST00000481208.1_3'UTR|ACOT11_ENST00000343744.2_Silent_p.L375L	NM_015547.3	NP_056362.1	Q8WXI4	ACO11_HUMAN	acyl-CoA thioesterase 11	375	START.				fatty acid metabolic process|intracellular signal transduction|response to cold		acyl-CoA thioesterase activity|carboxylesterase activity			NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(3)|lung(5)|ovary(1)	17						AGGTGCCCCTCTCCGTCCCCT	0.587													7	93					0.00198382	0.00209725	1	1	0	A	55069583	C	A	55069583	2	1	81	1	0	0	0	0	0	0	0	1	149	900	32	4		4	ACOT11	1	55069583	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	4571	55069583	194181038	521	4137											
TTC4	7268	broad.mit.edu	37	1	55188406	55188406	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:55188406G>T	ENST00000371281.3	+	5	615	c.528G>T	c.(526-528)gaG>gaT	p.E176D	MROH7-TTC4_ENST00000414150.2_3'UTR|TTC4_ENST00000371284.5_3'UTR	NM_004623.4	NP_004614.3	O95801	TTC4_HUMAN	tetratricopeptide repeat domain 4	176							binding			breast(2)|endometrium(3)|kidney(1)|lung(2)|stomach(1)	9						GGTGTGATGAGGGACTGCAAA	0.468													6	120					4.096e-09	4.9227e-09	1	1	0	T	55188406	G	T	55188406	3	4	81	1	0	0	0	0	1	0	0	0	16772	991	35	4	546	4	TTC4	1	55188406	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	118823	55188406	194062215	522	4138											
PARS2	25973	broad.mit.edu	37	1	55224353	55224353	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:55224353G>A	ENST00000371279.3	-	2	564	c.482C>T	c.(481-483)gCc>gTc	p.A161V		NM_152268.3	NP_689481.2	Q7L3T8	SYPM_HUMAN	prolyl-tRNA synthetase 2, mitochondrial (putative)	161					prolyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|proline-tRNA ligase activity			breast(1)|endometrium(3)|kidney(2)|lung(4)|ovary(2)|prostate(2)|skin(1)	15					L-Proline(DB00172)	GGCCGTAATGGCTTCCTCGTG	0.532													73	119					0	0	1	0	0	A	55224353	G	A	55224353	3	1	81	1	0	0	0	0	1	0	0	0	11514	1203	42	2	949	2	PARS2	1	55224353	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	35947	55224353	194026268	523	4139											
DHCR24	1718	broad.mit.edu	37	1	55319198	55319198	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:55319198C>T	ENST00000371269.3	-	8	1404	c.1306G>A	c.(1306-1308)Gac>Aac	p.D436N	DHCR24_ENST00000535035.1_Missense_Mutation_p.D395N|DHCR24_ENST00000537443.1_Missense_Mutation_p.D220N	NM_014762.3	NP_055577.1	Q15392	DHC24_HUMAN	24-dehydrocholesterol reductase	436					anti-apoptosis|apoptosis|cell cycle arrest|cholesterol biosynthetic process|negative regulation of caspase activity|neuroprotection|response to oxidative stress|skin development	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus	delta24-sterol reductase activity|enzyme binding|flavin adenine dinucleotide binding|peptide antigen binding			large_intestine(2)|liver(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)	7						GCTCCAATGTCGATGTAGAGC	0.582													14	14					0	0	1	0	0	T	55319198	C	T	55319198	3	4	81	1	0	0	0	0	1	0	0	0	4504	884	31	1	252	1	DHCR24	1	55319198	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	94845	55319198	193931423	524	4140											
DHCR24	1718	broad.mit.edu	37	1	55319719	55319719	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:55319719G>A	ENST00000371269.3	-	7	1307	c.1209C>T	c.(1207-1209)aaC>aaT	p.N403N	DHCR24_ENST00000535035.1_Silent_p.N362N|DHCR24_ENST00000537443.1_Silent_p.N187N	NM_014762.3	NP_055577.1	Q15392	DHC24_HUMAN	24-dehydrocholesterol reductase	403					anti-apoptosis|apoptosis|cell cycle arrest|cholesterol biosynthetic process|negative regulation of caspase activity|neuroprotection|response to oxidative stress|skin development	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus	delta24-sterol reductase activity|enzyme binding|flavin adenine dinucleotide binding|peptide antigen binding			large_intestine(2)|liver(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)	7						CGTGGATGTCGTTTTGGAAGG	0.627													3	9					0	0	1	0	0	A	55319719	G	A	55319719	2	1	81	1	0	0	0	0	0	0	0	1	4504	1136	40	1		1	DHCR24	1	55319719	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	521	55319719	193930902	525	4141											
DHCR24	1718	broad.mit.edu	37	1	55337188	55337188	+	Silent	SNP	G	G	A	rs145971053	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:55337188G>A	ENST00000371269.3	-	5	809	c.711C>T	c.(709-711)taC>taT	p.Y237Y	DHCR24_ENST00000535035.1_Silent_p.Y196Y|DHCR24_ENST00000537443.1_Silent_p.Y69Y	NM_014762.3	NP_055577.1	Q15392	DHC24_HUMAN	24-dehydrocholesterol reductase	237					anti-apoptosis|apoptosis|cell cycle arrest|cholesterol biosynthetic process|negative regulation of caspase activity|neuroprotection|response to oxidative stress|skin development	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus	delta24-sterol reductase activity|enzyme binding|flavin adenine dinucleotide binding|peptide antigen binding			large_intestine(2)|liver(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)	7						GCAGCTTGACGTACTTCTTGG	0.602													20	36					0	0	1	0	0	A	55337188	G	A	55337188	2	1	81	1	0	0	0	0	0	0	0	1	4504	1140	40	1		1	DHCR24	1	55337188	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	17469	55337188	193913433	526	4142											
DHCR24	1718	broad.mit.edu	37	1	55340771	55340771	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:55340771T>C	ENST00000371269.3	-	4	705	c.607A>G	c.(607-609)Act>Gct	p.T203A	DHCR24_ENST00000535035.1_Missense_Mutation_p.T162A|DHCR24_ENST00000537443.1_Missense_Mutation_p.T35A	NM_014762.3	NP_055577.1	Q15392	DHC24_HUMAN	24-dehydrocholesterol reductase	203	FAD-binding PCMH-type.				anti-apoptosis|apoptosis|cell cycle arrest|cholesterol biosynthetic process|negative regulation of caspase activity|neuroprotection|response to oxidative stress|skin development	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus	delta24-sterol reductase activity|enzyme binding|flavin adenine dinucleotide binding|peptide antigen binding			large_intestine(2)|liver(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)	7						CTCACCGGAGTGCATCGCACA	0.567													12	30					0	0	1	0	0	C	55340771	T	C	55340771	3	2	81	1	0	0	0	0	1	0	0	0	4504	1696	59	3	967	3	DHCR24	1	55340771	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	3583	55340771	193909850	527	4143											
TMEM61	199964	broad.mit.edu	37	1	55452039	55452039	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:55452039G>A	ENST00000371268.3	+	2	559	c.285G>A	c.(283-285)ggG>ggA	p.G95G	RP11-12C17.2_ENST00000436960.1_RNA	NM_182532.1	NP_872338.1	Q8N0U2	TMM61_HUMAN	transmembrane protein 61	95						integral to membrane				endometrium(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	4						GCATCCCAGGGCCACCTCGAT	0.642													59	96					0	0	1	0	0	A	55452039	G	A	55452039	2	1	81	1	0	0	0	0	0	0	0	1	16248	1190	42	2		2	TMEM61	1	55452039	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	111268	55452039	193798582	528	4144											
USP24	23358	broad.mit.edu	37	1	55560968	55560968	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:55560968G>A	ENST00000294383.6	-	51	6162	c.6163C>T	c.(6163-6165)Cga>Tga	p.R2055*	USP24_ENST00000407756.1_Nonsense_Mutation_p.R1895*	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN	ubiquitin specific peptidase 24	2055					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						ACGCTGACTCGACTTTTCTTT	0.448													8	19					0	0	1	0	0	A	55560968	G	A	55560968	4	1	81	1	0	0	0	0	0	1	0	0	17115	1066	37	1	1771	1	USP24	1	55560968	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	108929	55560968	193689653	529	4145											
PRKAA2	5563	broad.mit.edu	37	1	57161814	57161814	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:57161814C>A	ENST00000371244.4	+	6	836	c.770C>A	c.(769-771)gCa>gAa	p.A257E		NM_006252.3	NP_006243.2	P54646	AAPK2_HUMAN	protein kinase, AMP-activated, alpha 2 catalytic subunit	257	Protein kinase.				carnitine shuttle|cell cycle arrest|cholesterol biosynthetic process|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleoplasm	ATP binding|metal ion binding			breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1)	23						CTGAAACGAGCAACTATCAAA	0.378													18	228					1.67942e-08	2.00033e-08	1	1	0	A	57161814	C	A	57161814	3	1	81	1	0	0	0	0	1	0	0	0	12546	710	25	5	792	5	PRKAA2	1	57161814	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1600846	57161814	192088807	530	4146											
PRKAA2	5563	broad.mit.edu	37	1	57170134	57170134	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:57170134G>T	ENST00000371244.4	+	7	1345	c.1279G>T	c.(1279-1281)Gat>Tat	p.D427Y		NM_006252.3	NP_006243.2	P54646	AAPK2_HUMAN	protein kinase, AMP-activated, alpha 2 catalytic subunit	427					carnitine shuttle|cell cycle arrest|cholesterol biosynthetic process|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleoplasm	ATP binding|metal ion binding			breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1)	23						GAAGCAGCTGGATTTTGAATG	0.373													10	105					2.17888e-05	2.43576e-05	1	1	0	T	57170134	G	T	57170134	3	4	81	1	0	0	0	0	1	0	0	0	12546	1174	41	5	1305	5	PRKAA2	1	57170134	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	8320	57170134	192080487	531	4147											
C1orf168	199920	broad.mit.edu	37	1	57233502	57233502	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:57233502G>A	ENST00000343433.6	-	5	1143	c.1063C>T	c.(1063-1065)Cca>Tca	p.P355S	C1orf168_ENST00000484327.1_5'UTR	NM_001004303.4	NP_001004303.3	Q5VWT5	CA168_HUMAN	chromosome 1 open reading frame 168	355										NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2)	46						GCAGACTTACGATCAGCAATT	0.363													24	59					0	0	1	0	0	A	57233502	G	A	57233502	5	1	81	1	0	0	0	0	0	0	1	0	2025	1072	37	1	1187	1	C1orf168	1	57233502	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	63368	57233502	192017119	532	4148											
C8B	732	broad.mit.edu	37	1	57395139	57395139	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:57395139G>A	ENST00000543257.1	-	13	2124	c.1558C>T	c.(1558-1560)Cct>Tct	p.P520S	C8B_ENST00000535057.1_Missense_Mutation_p.P510S|C8B_ENST00000371237.4_Missense_Mutation_p.P572S	NM_001278543.1	NP_001265472.1	P07358	CO8B_HUMAN	complement component 8, beta polypeptide	572	EGF-like.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						TTTTGAGGAGGTGGATTGTTA	0.483													22	34					0	0	1	0	0	A	57395139	G	A	57395139	3	1	81	1	0	0	0	0	1	0	0	0	2433	1261	44	2	65	2	C8B	1	57395139	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	161637	57395139	191855482	533	4149											
C8B	732	broad.mit.edu	37	1	57415267	57415267	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:57415267G>A	ENST00000543257.1	-	7	1235	c.669C>T	c.(667-669)ggC>ggT	p.G223G	C8B_ENST00000535057.1_Silent_p.G213G|C8B_ENST00000371237.4_Silent_p.G275G	NM_001278543.1	NP_001265472.1	P07358	CO8B_HUMAN	complement component 8, beta polypeptide	275	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						TATAGTGTTTGCCTCGATCAC	0.368													22	40					0	0	1	0	0	A	57415267	G	A	57415267	2	1	81	1	0	0	0	0	0	0	0	1	2433	1306	46	2		2	C8B	1	57415267	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	20128	57415267	191835354	534	4150											
C8B	732	broad.mit.edu	37	1	57422504	57422504	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:57422504C>T	ENST00000543257.1	-	4	739	c.173G>A	c.(172-174)tGt>tAt	p.C58Y	C8B_ENST00000535057.1_Missense_Mutation_p.C48Y|C8B_ENST00000371237.4_Missense_Mutation_p.C110Y	NM_001278543.1	NP_001265472.1	P07358	CO8B_HUMAN	complement component 8, beta polypeptide	110					complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						GTTGGTAACACAGTCTTCGAC	0.502													32	252					0	0	1	0	0	T	57422504	C	T	57422504	3	4	81	1	0	0	0	0	1	0	0	0	2433	478	17	2	1486	2	C8B	1	57422504	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	7237	57422504	191828117	535	4151											
C8B	732	broad.mit.edu	37	1	57425741	57425741	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:57425741C>T	ENST00000543257.1	-	3	611	c.45G>A	c.(43-45)ctG>ctA	p.L15L	C8B_ENST00000494324.1_5'UTR|C8B_ENST00000535057.1_5'UTR|C8B_ENST00000371237.4_Silent_p.L67L	NM_001278543.1	NP_001265472.1	P07358	CO8B_HUMAN	complement component 8, beta polypeptide	67					complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						ACCAACTAGACAGCTCACAAT	0.517													8	57					0	0	1	0	0	T	57425741	C	T	57425741	2	4	81	1	0	0	0	0	0	0	0	1	2433	465	17	2		2	C8B	1	57425741	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3237	57425741	191824880	536	4152											
OMA1	115209	broad.mit.edu	37	1	59004856	59004856	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:59004856G>A	ENST00000371226.3	-	2	224	c.111C>T	c.(109-111)ggC>ggT	p.G37G	DAB1_ENST00000485760.1_Intron|OMA1_ENST00000358603.2_Silent_p.G37G|OMA1_ENST00000467063.1_Intron	NM_145243.3	NP_660286.1	Q96E52	OMA1_HUMAN	OMA1 zinc metallopeptidase	37					proteolysis	integral to membrane|mitochondrial membrane	metal ion binding|metalloendopeptidase activity			NS(1)|breast(1)|large_intestine(6)|liver(2)|lung(6)|prostate(1)|skin(1)	18	all_cancers(7;6.54e-05)					CTTGATGACAGCCCCGTGAGG	0.403													8	132					0	0	1	0	0	A	59004856	G	A	59004856	2	1	81	1	0	0	0	0	0	0	0	1	10912	958	34	2		2	OMA1	1	59004856	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1579115	59004856	190245765	537	4153											
MYSM1	114803	broad.mit.edu	37	1	59147880	59147880	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:59147880C>T	ENST00000472487.1	-	8	875	c.836G>A	c.(835-837)tGt>tAt	p.C279Y	MYSM1_ENST00000493821.1_5'UTR	NM_001085487.2	NP_001078956.1	Q5VVJ2	MYSM1_HUMAN	Myb-like, SWIRM and MPN domains 1	279					histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin remodeling complex	DNA binding|histone binding|metal ion binding|metallopeptidase activity|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(7;9.36e-06)					ATTTTGAAGACAGCCCCTGGA	0.358													14	166					0	0	1	0	0	T	59147880	C	T	59147880	3	4	81	1	0	0	0	0	1	0	0	0	10149	478	17	2	1702	2	MYSM1	1	59147880	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	143024	59147880	190102741	538	4154											
HOOK1	51361	broad.mit.edu	37	1	60314120	60314120	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:60314120G>A	ENST00000371208.3	+	11	1320	c.1063G>A	c.(1063-1065)Gtc>Atc	p.V355I	HOOK1_ENST00000465876.1_3'UTR|HOOK1_ENST00000395561.2_Missense_Mutation_p.V313I	NM_015888.4	NP_056972.1	Q9UJC3	HOOK1_HUMAN	hook microtubule-tethering protein 1	355	Sufficient for interaction with microtubules.				early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|multicellular organismal development|protein transport	FHF complex|microtubule	identical protein binding			biliary_tract(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|urinary_tract(1)	29	all_cancers(7;0.000129)					GCATAATACAGTCAGCTTAGA	0.328													7	72					0	0	1	0	0	A	60314120	G	A	60314120	3	1	81	1	0	0	0	0	1	0	0	0	7323	1029	36	2	1105	2	HOOK1	1	60314120	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1166240	60314120	188936501	539	4155											
HOOK1	51361	broad.mit.edu	37	1	60324163	60324163	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:60324163C>T	ENST00000371208.3	+	13	1563	c.1306C>T	c.(1306-1308)Caa>Taa	p.Q436*	HOOK1_ENST00000465876.1_3'UTR|HOOK1_ENST00000395561.2_Nonsense_Mutation_p.Q394*	NM_015888.4	NP_056972.1	Q9UJC3	HOOK1_HUMAN	hook microtubule-tethering protein 1	436	Sufficient for interaction with microtubules.				early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|multicellular organismal development|protein transport	FHF complex|microtubule	identical protein binding			biliary_tract(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|urinary_tract(1)	29	all_cancers(7;0.000129)					TTCACAAGTACAACAGGACCA	0.343													22	32					0	0	1	0	0	T	60324163	C	T	60324163	4	4	81	1	0	0	0	0	0	1	0	0	7323	479	17	2	1356	2	HOOK1	1	60324163	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	10043	60324163	188926458	540	4156											
NFIA	4774	broad.mit.edu	37	1	61848933	61848933	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:61848933A>C	ENST00000403491.3	+	7	1455	c.971A>C	c.(970-972)aAg>aCg	p.K324T	NFIA_ENST00000407417.3_Missense_Mutation_p.K316T|NFIA_ENST00000371191.1_Missense_Mutation_p.K347T|NFIA_ENST00000479364.1_3'UTR|NFIA_ENST00000371189.4_Missense_Mutation_p.K369T|NFIA_ENST00000371187.3_Missense_Mutation_p.K324T|NFIA_ENST00000371185.2_Missense_Mutation_p.K302T|NFIA_ENST00000371184.2_Missense_Mutation_p.K195T|NFIA_ENST00000485903.2_Intron	NM_001134673.3|NM_005595.4	NP_001128145.1|NP_005586.1	Q12857	NFIA_HUMAN	nuclear factor I/A	324					DNA replication|viral genome replication	cell junction|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding		NFIA/EHF(2)	endometrium(1)|kidney(2)|large_intestine(8)|lung(20)|pancreas(1)|prostate(1)|skin(1)	34						ACCACACTGAAGAAGTCGGAG	0.483													35	80					0	0	1	0	0	C	61848933	A	C	61848933	3	2	81	1	0	0	0	0	1	0	0	0	10417	72	3	5	1143	5	NFIA	1	61848933	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	1524770	61848933	187401688	541	4157											
TM2D1	83941	broad.mit.edu	37	1	62190778	62190778	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:62190778C>T	ENST00000371177.2	-	1	27	c.15G>A	c.(13-15)tgG>tgA	p.W5*	TM2D1_ENST00000371180.2_Nonsense_Mutation_p.W67*|TM2D1_ENST00000606498.1_Nonsense_Mutation_p.W5*|TM2D1_ENST00000294613.5_Nonsense_Mutation_p.W5*			Q9BX74	TM2D1_HUMAN	TM2 domain containing 1	5					apoptosis					large_intestine(2)|lung(3)|ovary(1)	6						GACCAGACGGCCAGGCGGCCG	0.652													17	28					0	0	1	0	0	T	62190778	C	T	62190778	4	4	81	1	0	0	0	0	0	1	0	0	16023	740	26	2	632	2	TM2D1	1	62190778	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	341845	62190778	187059843	542	4158											
INADL	10207	broad.mit.edu	37	1	62262978	62262978	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:62262978A>G	ENST00000371158.2	+	11	1394	c.1280A>G	c.(1279-1281)cAg>cGg	p.Q427R	INADL_ENST00000316485.6_Missense_Mutation_p.Q427R	NM_176877.2	NP_795352	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	427	PDZ 3.				intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						GTGAACATTCAGGGTTTTGCC	0.408													8	163					0	0	1	0	0	G	62262978	A	G	62262978	3	3	81	1	0	0	0	0	1	0	0	0	7775	188	7	3	1318	3	INADL	1	62262978	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	72200	62262978	186987643	543	4159											
INADL	10207	broad.mit.edu	37	1	62293185	62293185	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:62293185G>A	ENST00000371158.2	+	16	2024	c.1910G>A	c.(1909-1911)cGg>cAg	p.R637Q	INADL_ENST00000316485.6_Missense_Mutation_p.R637Q	NM_176877.2	NP_795352	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	637	PDZ 4.				intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						GTTTGCTGTCGGAGGTTGTTT	0.443													44	66					0	0	1	0	0	A	62293185	G	A	62293185	3	1	81	1	0	0	0	0	1	0	0	0	7775	1116	39	1	1968	1	INADL	1	62293185	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	30207	62293185	186957436	544	4160											
INADL	10207	broad.mit.edu	37	1	62330279	62330279	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:62330279C>T	ENST00000371158.2	+	20	2923	c.2809C>T	c.(2809-2811)Ccg>Tcg	p.P937S	INADL_ENST00000316485.6_Missense_Mutation_p.P937S	NM_176877.2	NP_795352	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	937					intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						GGAGGCACAGCCGTATGGCTA	0.483													29	38					0	0	1	0	0	T	62330279	C	T	62330279	3	4	81	1	0	0	0	0	1	0	0	0	7775	739	26	2	2883	2	INADL	1	62330279	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	37094	62330279	186920342	545	4161											
KANK4	163782	broad.mit.edu	37	1	62740589	62740589	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:62740589G>A	ENST00000371153.4	-	3	565	c.187C>T	c.(187-189)Cag>Tag	p.Q63*	KANK4_ENST00000354381.3_Intron	NM_181712.4	NP_859063.3	Q5T7N3	KANK4_HUMAN	KN motif and ankyrin repeat domains 4	63										NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						AATTTGGCCTGCTTGGCCCTT	0.542													14	145					0	0	1	0	0	A	62740589	G	A	62740589	4	1	81	1	0	0	0	0	0	1	0	0	8023	1328	46	2	2832	2	KANK4	1	62740589	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	410310	62740589	186510032	546	4162											
DOCK7	85440	broad.mit.edu	37	1	62941476	62941477	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:62941476_62941477insA	ENST00000251157.5	-	45	5862_5863	c.5829_5830insT	c.(5827-5832)catgggfs	p.G1944fs	DOCK7_ENST00000340370.5_Frame_Shift_Ins_p.G1924fs|DOCK7_ENST00000489185.1_5'UTR	NM_001271999.1	NP_001258928.1	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	1955	DHR-2.				activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						TGAAGTTCCCCATGGGCACGGC	0.391													18	150	---	---	---	---						A	62941477	-	A	62941476	7	5	81	1	0	1	1	0	0	0	0	0	4719	594	21	0	579	0	DOCK7	1	62941476	Frame_Shift_Ins	INS	-	TCGA-DU-6392-01A-11D-1705-08	200887	62941476	186309145	547	4163											
DOCK7	85440	broad.mit.edu	37	1	62979117	62979117	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:62979117G>T	ENST00000340370.5	-	32	4204	c.4187C>A	c.(4186-4188)cCt>cAt	p.P1396H	DOCK7_ENST00000251157.5_Intron	NM_033407.2	NP_212132.2	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	1427					activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						ATTCTCACCAGGAGGAGAAGC	0.413													4	36					1.23904e-05	1.39156e-05	1	1	0	T	62979117	G	T	62979117	3	4	81	1	0	0	0	0	1	0	0	0	4719	1000	35	4	2214	4	DOCK7	1	62979117	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	37641	62979117	186271504	548	4164											
DOCK7	85440	broad.mit.edu	37	1	63005469	63005469	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:63005469G>T	ENST00000251157.5	-	26	3173	c.3140C>A	c.(3139-3141)gCt>gAt	p.A1047D	DOCK7_ENST00000340370.5_Missense_Mutation_p.A1016D	NM_001271999.1	NP_001258928.1	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	1047					activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						GCTGACAAGAGCTGCAATGTC	0.383													6	35					2.0095e-06	2.30238e-06	1	1	0	T	63005469	G	T	63005469	3	4	81	1	0	0	0	0	1	0	0	0	4719	971	34	4	3382	4	DOCK7	1	63005469	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	26352	63005469	186245152	549	4165											
DOCK7	85440	broad.mit.edu	37	1	63113847	63113847	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:63113847C>T	ENST00000251157.5	-	6	695	c.662G>A	c.(661-663)cGt>cAt	p.R221H	DOCK7_ENST00000340370.5_Missense_Mutation_p.R221H|DOCK7_ENST00000404627.2_Missense_Mutation_p.R221H	NM_001271999.1	NP_001258928.1	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	221					activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						ATCATTCTGACGGTCTATTTC	0.388													27	83					0	0	1	0	0	T	63113847	C	T	63113847	3	4	81	1	0	0	0	0	1	0	0	0	4719	536	19	1	5843	1	DOCK7	1	63113847	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	108378	63113847	186136774	550	4166											
DOCK7	85440	broad.mit.edu	37	1	63113871	63113871	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:63113871C>T	ENST00000251157.5	-	6	671	c.638G>A	c.(637-639)cGa>cAa	p.R213Q	DOCK7_ENST00000340370.5_Missense_Mutation_p.R213Q|DOCK7_ENST00000404627.2_Missense_Mutation_p.R213Q	NM_001271999.1	NP_001258928.1	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	213					activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						ATTTGGAGTTCGATCAAGTAA	0.403													31	70					0	0	1	0	0	T	63113871	C	T	63113871	3	4	81	1	0	0	0	0	1	0	0	0	4719	884	31	1	5867	1	DOCK7	1	63113871	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	24	63113871	186136750	551	4167											
DOCK7	85440	broad.mit.edu	37	1	63119776	63119776	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:63119776G>A	ENST00000251157.5	-	3	232	c.199C>T	c.(199-201)Cat>Tat	p.H67Y	DOCK7_ENST00000340370.5_Missense_Mutation_p.H67Y|DOCK7_ENST00000404627.2_Missense_Mutation_p.H67Y	NM_001271999.1	NP_001258928.1	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	67					activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						GCCAAAGGATGAGTAATGAGG	0.428													20	27					0	0	1	0	0	A	63119776	G	A	63119776	3	1	81	1	0	0	0	0	1	0	0	0	4719	1290	45	2	6318	2	DOCK7	1	63119776	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	5905	63119776	186130845	552	4168											
DOCK7	85440	broad.mit.edu	37	1	63128776	63128776	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:63128776G>A	ENST00000251157.5	-	2	97	c.64C>T	c.(64-66)Cag>Tag	p.Q22*	DOCK7_ENST00000340370.5_Nonsense_Mutation_p.Q22*|DOCK7_ENST00000404627.2_Nonsense_Mutation_p.Q22*	NM_001271999.1	NP_001258928.1	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	22					activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						CCGGAGATCTGCTTCCTAACT	0.368													13	137					0	0	1	0	0	A	63128776	G	A	63128776	4	1	81	1	0	0	0	0	0	1	0	0	4719	1328	46	2	6457	2	DOCK7	1	63128776	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	9000	63128776	186121845	553	4169											
ALG6	29929	broad.mit.edu	37	1	63870168	63870168	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:63870168G>A	ENST00000371108.4	+	5	607	c.302G>A	c.(301-303)cGt>cAt	p.R101H	ALG6_ENST00000263440.4_Missense_Mutation_p.R101H	NM_013339.3	NP_037471.2	Q9Y672	ALG6_HUMAN	ALG6, alpha-1,3-glucosyltransferase	101					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity			endometrium(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						CATACATCACGTGGATATGAG	0.348													7	88					0	0	1	0	0	A	63870168	G	A	63870168	3	1	81	1	0	0	0	0	1	0	0	0	518	1145	40	1	316	1	ALG6	1	63870168	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	741392	63870168	185380453	554	4170											
ALG6	29929	broad.mit.edu	37	1	63872050	63872050	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:63872050G>T	ENST00000371108.4	+	6	714	c.409G>T	c.(409-411)Gaa>Taa	p.E137*	ALG6_ENST00000263440.4_Nonsense_Mutation_p.E137*	NM_013339.3	NP_037471.2	Q9Y672	ALG6_HUMAN	ALG6, alpha-1,3-glucosyltransferase	137					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity			endometrium(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						TTGCTTAAAAGAAATCTCAAC	0.328													8	69					0.00621372	0.00649472	1	1	0	T	63872050	G	T	63872050	4	4	81	1	0	0	0	0	0	1	0	0	518	943	33	4	427	4	ALG6	1	63872050	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1882	63872050	185378571	555	4171											
EFCAB7	84455	broad.mit.edu	37	1	64011660	64011660	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:64011660G>T	ENST00000371088.4	+	7	1124	c.878G>T	c.(877-879)aGg>aTg	p.R293M		NM_032437.2	NP_115813.2	A8K855	EFCB7_HUMAN	EF-hand calcium binding domain 7	293							calcium ion binding			breast(1)|endometrium(4)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	19						CATCAGTACAGGATGCAAATA	0.328													35	36					3.67414e-24	4.84749e-24	1	1	0	T	64011660	G	T	64011660	3	4	81	1	0	0	0	0	1	0	0	0	4966	1000	35	4	900	4	EFCAB7	1	64011660	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	139610	64011660	185238961	556	4172											
EFCAB7	84455	broad.mit.edu	37	1	64027519	64027519	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:64027519G>T	ENST00000371088.4	+	11	1734	c.1488G>T	c.(1486-1488)gaG>gaT	p.E496D	EFCAB7_ENST00000461039.1_3'UTR	NM_032437.2	NP_115813.2	A8K855	EFCB7_HUMAN	EF-hand calcium binding domain 7	496							calcium ion binding			breast(1)|endometrium(4)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	19						AAGCTCTGGAGTTGACAGAGG	0.348													5	41					1	1	1	1	0	T	64027519	G	T	64027519	3	4	81	1	0	0	0	0	1	0	0	0	4966	1020	36	4	1526	4	EFCAB7	1	64027519	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	15859	64027519	185223102	557	4173											
ROR1	4919	broad.mit.edu	37	1	64605866	64605866	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:64605866C>T	ENST00000371079.1	+	6	1060	c.685C>T	c.(685-687)Cac>Tac	p.H229Y	ROR1_ENST00000371080.1_Missense_Mutation_p.H229Y|ROR1_ENST00000482426.1_3'UTR|RP11-24J23.2_ENST00000424995.1_RNA|ROR1_ENST00000545203.1_5'UTR	NM_005012.3	NP_005003.2	Q01973	ROR1_HUMAN	receptor tyrosine kinase-like orphan receptor 1	229	FZ.				transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			breast(7)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(10)|ovary(6)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	51						TTCCCTGTGCCACTATGCCTT	0.463													14	29					0	0	1	0	0	T	64605866	C	T	64605866	3	4	81	1	0	0	0	0	1	0	0	0	13578	594	21	2	707	2	ROR1	1	64605866	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	578347	64605866	184644755	558	4174											
ROR1	4919	broad.mit.edu	37	1	64643957	64643957	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:64643957C>T	ENST00000371079.1	+	9	2608	c.2233C>T	c.(2233-2235)Cgg>Tgg	p.R745W	ROR1_ENST00000545203.1_Missense_Mutation_p.R196W	NM_005012.3	NP_005003.2	Q01973	ROR1_HUMAN	receptor tyrosine kinase-like orphan receptor 1	745	Protein kinase.				transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			breast(7)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(10)|ovary(6)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	51						TATTCACGTCCGGCTTCGGTC	0.522													23	24					0	0	1	0	0	T	64643957	C	T	64643957	3	4	81	1	0	0	0	0	1	0	0	0	13578	643	23	1	2275	1	ROR1	1	64643957	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	38091	64643957	184606664	559	4175											
UBE2U	148581	broad.mit.edu	37	1	64671402	64671402	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:64671402G>T	ENST00000371076.3	+	2	391	c.147G>T	c.(145-147)caG>caT	p.Q49H		NM_152489.1	NP_689702.1	Q5VVX9	UBE2U_HUMAN	ubiquitin-conjugating enzyme E2U (putative)	49							ATP binding|protein binding|ubiquitin-protein ligase activity			large_intestine(3)|lung(2)|skin(1)	6						CAGTTTGGCAGGGTTTGTATT	0.313													5	51					0.00116845	0.00124301	1	1	0	T	64671402	G	T	64671402	5	4	81	1	0	0	0	0	0	0	1	0	16935	1014	35	4	153	4	UBE2U	1	64671402	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	27445	64671402	184579219	560	4176											
CACHD1	57685	broad.mit.edu	37	1	65141176	65141176	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:65141176C>T	ENST00000371073.2	+	20	2820	c.2820C>T	c.(2818-2820)aaC>aaT	p.N940N	CACHD1_ENST00000495994.1_3'UTR|CACHD1_ENST00000290039.5_Silent_p.N889N			Q5VU97	CAHD1_HUMAN	cache domain containing 1	940					calcium ion transport	integral to membrane				breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						GCATTGTCAACGAAACCTGCG	0.493											OREG0013544	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	44	66					0	0	1	0	0	T	65141176	C	T	65141176	2	4	81	1	0	0	0	0	0	0	0	1	2555	535	19	1		1	CACHD1	1	65141176	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	469774	65141176	184109445	561	4177											
RAVER2	55225	broad.mit.edu	37	1	65234399	65234399	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:65234399C>T	ENST00000294428.3	+	2	388	c.310C>T	c.(310-312)Cga>Tga	p.R104*	RAVER2_ENST00000371072.4_Nonsense_Mutation_p.R104*			Q9HCJ3	RAVR2_HUMAN	ribonucleoprotein, PTB-binding 2	104	RRM 1.					cytoplasm|nucleus	nucleotide binding|RNA binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	24						CAGAAATAAACGAACAGGTAA	0.299													18	56					0	0	1	0	0	T	65234399	C	T	65234399	4	4	81	1	0	0	0	0	0	1	0	0	13147	528	19	1	316	1	RAVER2	1	65234399	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	93223	65234399	184016222	562	4178											
RAVER2	55225	broad.mit.edu	37	1	65296646	65296647	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:65296646_65296647insA	ENST00000294428.3	+	12	2132_2133	c.2054_2055insA	c.(2053-2058)ttaaaafs	p.LK685fs	RAVER2_ENST00000371072.4_Frame_Shift_Ins_p.LK672fs|RAVER2_ENST00000430964.2_Frame_Shift_Ins_p.LK224fs			Q9HCJ3	RAVR2_HUMAN	ribonucleoprotein, PTB-binding 2	685						cytoplasm|nucleus	nucleotide binding|RNA binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	24						GAAACTTACTTAAAAAAGAAGC	0.446													9	142	---	---	---	---						A	65296647	-	A	65296646	7	5	81	1	0	1	1	0	0	0	0	0	13147	1764	61	0	2061	0	RAVER2	1	65296646	Frame_Shift_Ins	INS	-	TCGA-DU-6392-01A-11D-1705-08	62247	65296646	183953975	563	4179											
JAK1	3716	broad.mit.edu	37	1	65305303	65305303	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:65305303C>A	ENST00000342505.4	-	20	3073	c.2825G>T	c.(2824-2826)gGa>gTa	p.G942V		NM_002227.2	NP_002218.2	P23458	JAK1_HUMAN	Janus kinase 1	942	Protein kinase 2.				interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|endomembrane system|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120				BRCA - Breast invasive adenocarcinoma(111;0.0485)		TGTGCAGATTCCTTTGTACTT	0.453			Mis		ALL								6	142					3.59834e-05	3.99423e-05	1	1	0	A	65305303	C	A	65305303	3	1	81	1	0	0	0	0	1	0	0	0	7981	855	30	5	663	5	JAK1	1	65305303	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	8657	65305303	183945318	564	4180											
DNAJC6	9829	broad.mit.edu	37	1	65845091	65845091	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:65845091G>T	ENST00000395325.3	+	5	536	c.379G>T	c.(379-381)Gaa>Taa	p.E127*	DNAJC6_ENST00000371069.4_Nonsense_Mutation_p.E184*|DNAJC6_ENST00000263441.7_Nonsense_Mutation_p.E114*	NM_014787.3	NP_055602.1	O75061	AUXI_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 6	127	Phosphatase tensin-type.				cellular membrane organization|post-Golgi vesicle-mediated transport	cytosol	heat shock protein binding|protein tyrosine phosphatase activity|SH3 domain binding			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(22)|ovary(1)|prostate(2)|skin(1)	39						TTAGGTCTCAGAATGCAGTTG	0.453													46	57					1.00001e-27	1.32875e-27	1	1	0	T	65845091	G	T	65845091	4	4	81	1	0	0	0	0	0	1	0	0	4680	943	33	4	397	4	DNAJC6	1	65845091	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	539788	65845091	183405530	565	4181											
DNAJC6	9829	broad.mit.edu	37	1	65855119	65855119	+	Silent	SNP	G	G	A	rs148673423		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:65855119G>A	ENST00000395325.3	+	10	1360	c.1203G>A	c.(1201-1203)acG>acA	p.T401T	DNAJC6_ENST00000371069.4_Silent_p.T458T|DNAJC6_ENST00000263441.7_Silent_p.T388T	NM_014787.3	NP_055602.1	O75061	AUXI_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 6	401					cellular membrane organization|post-Golgi vesicle-mediated transport	cytosol	heat shock protein binding|protein tyrosine phosphatase activity|SH3 domain binding	p.T401T(1)		NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(22)|ovary(1)|prostate(2)|skin(1)	39						ATCAAGATACGCTGGCCTTAG	0.413													13	46					0	0	1	0	0	A	65855119	G	A	65855119	2	1	81	1	0	0	0	0	0	0	0	1	4680	1074	38	1		1	DNAJC6	1	65855119	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	10028	65855119	183395502	566	4182											
LEPR	3953	broad.mit.edu	37	1	66067541	66067541	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:66067541T>G	ENST00000349533.6	+	10	1486	c.1301T>G	c.(1300-1302)aTc>aGc	p.I434S	LEPR_ENST00000406510.3_Intron|LEPR_ENST00000462765.1_3'UTR|LEPR_ENST00000371058.1_Missense_Mutation_p.I434S|LEPR_ENST00000344610.8_Missense_Mutation_p.I434S|LEPR_ENST00000371060.3_Missense_Mutation_p.I434S|LEPR_ENST00000371059.3_Missense_Mutation_p.I434S	NM_002303.5	NP_002294.2	P48357	LEPR_HUMAN	leptin receptor	434					energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		AATATCAATATCTCATGTGAA	0.294													5	63					0	0	1	0	0	G	66067541	T	G	66067541	3	3	81	1	0	0	0	0	1	0	0	0	8767	1435	50	4	1331	4	LEPR	1	66067541	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	212422	66067541	183183080	567	4183											
PDE4B	5142	broad.mit.edu	37	1	66831427	66831427	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:66831427C>T	ENST00000423207.2	+	11	1802	c.1317C>T	c.(1315-1317)tcC>tcT	p.S439S	PDE4B_ENST00000371049.3_Silent_p.S454S|PDE4B_ENST00000480109.2_Silent_p.S221S|PDE4B_ENST00000371045.5_Silent_p.S282S|PDE4B_ENST00000329654.4_Silent_p.S454S	NM_001037340.1	NP_001032417.1	Q07343	PDE4B_HUMAN	phosphodiesterase 4B, cAMP-specific	454					signal transduction	cytosol|insoluble fraction|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	37					Adenosine monophosphate(DB00131)|Amrinone(DB01427)|Caffeine(DB00201)|Cilostazol(DB01166)|Dyphylline(DB00651)|Enprofylline(DB00824)|Papaverine(DB01113)|Pentoxifylline(DB00806)|Theophylline(DB00277)	CTGGAGTCTCCAATCAGTTTC	0.413													5	33					0	0	1	0	0	T	66831427	C	T	66831427	2	4	81	1	0	0	0	0	0	0	0	1	11687	581	21	2		2	PDE4B	1	66831427	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	763886	66831427	182419194	568	4184											
SGIP1	84251	broad.mit.edu	37	1	67137651	67137651	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:67137651G>A	ENST00000371037.4	+	11	610	c.533G>A	c.(532-534)cGt>cAt	p.R178H	SGIP1_ENST00000468286.1_3'UTR|SGIP1_ENST00000237247.6_Missense_Mutation_p.R182H|AL139147.1_ENST00000502413.2_Intron|SGIP1_ENST00000371039.1_Missense_Mutation_p.R146H|SGIP1_ENST00000371036.3_Missense_Mutation_p.R145H|SGIP1_ENST00000371035.3_Missense_Mutation_p.R135H	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1	178	Pro-rich.				positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	microtubule binding|phospholipid binding|SH3 domain binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						AGACCCAGGCGTTCCACACCA	0.378													15	14					0	0	1	0	0	A	67137651	G	A	67137651	3	1	81	1	0	0	0	0	1	0	0	0	14260	1145	40	1	575	1	SGIP1	1	67137651	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	306224	67137651	182112970	569	4185											
SGIP1	84251	broad.mit.edu	37	1	67185056	67185056	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:67185056C>T	ENST00000371037.4	+	19	1787	c.1710C>T	c.(1708-1710)gtC>gtT	p.V570V	SGIP1_ENST00000237247.6_Silent_p.V601V|SGIP1_ENST00000371039.1_Silent_p.V373V|SGIP1_ENST00000435165.2_Silent_p.V75V|SGIP1_ENST00000371036.3_Silent_p.V372V|SGIP1_ENST00000371035.3_Silent_p.V360V	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1	570					positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	microtubule binding|phospholipid binding|SH3 domain binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						CAGAAACAGTCAATGCCTATT	0.458													12	16					0	0	1	0	0	T	67185056	C	T	67185056	2	4	81	1	0	0	0	0	0	0	0	1	14260	813	29	2		2	SGIP1	1	67185056	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	47405	67185056	182065565	570	4186											
TCTEX1D1	200132	broad.mit.edu	37	1	67243109	67243109	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:67243109C>T	ENST00000282670.2	+	5	640	c.512C>T	c.(511-513)gCa>gTa	p.A171V		NM_152665.2	NP_689878.2	Q8N7M0	TC1D1_HUMAN	Tctex1 domain containing 1	171										large_intestine(2)|lung(10)|skin(1)	13						TTCGCTCTTGCAAATGTCTAT	0.368													11	96					0	0	1	0	0	T	67243109	C	T	67243109	3	4	81	1	0	0	0	0	1	0	0	0	15778	710	25	2	526	2	TCTEX1D1	1	67243109	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	58053	67243109	182007512	571	4187											
WDR78	79819	broad.mit.edu	37	1	67299299	67299299	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:67299299G>T	ENST00000371026.3	-	13	2037	c.1982C>A	c.(1981-1983)gCt>gAt	p.A661D	WDR78_ENST00000431318.1_Missense_Mutation_p.A407D	NM_024763.4	NP_079039.4	Q5VTH9	WDR78_HUMAN	WD repeat domain 78	661										NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3)	32						CATTCCAGGAGCCTGTCGAGA	0.343													14	30					1.49906e-05	1.6816e-05	1	1	0	T	67299299	G	T	67299299	3	4	81	1	0	0	0	0	1	0	0	0	17388	971	34	4	584	4	WDR78	1	67299299	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	56190	67299299	181951322	572	4188											
WDR78	79819	broad.mit.edu	37	1	67340464	67340464	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:67340464G>A	ENST00000371026.3	-	5	855	c.800C>T	c.(799-801)aCt>aTt	p.T267I	WDR78_ENST00000371023.3_Splice_Site_p.T267I|WDR78_ENST00000371022.3_Splice_Site_p.T267I|WDR78_ENST00000431318.1_Splice_Site_p.T13I	NM_024763.4	NP_079039.4	Q5VTH9	WDR78_HUMAN	WD repeat domain 78	267										NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3)	32						CCATACATACGTTACTTTCTC	0.403													32	71					0	0	1	0	0	A	67340464	G	A	67340464	5	1	81	1	0	0	0	0	0	0	1	0	17388	1159	40	1	1855	1	WDR78	1	67340464	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	41165	67340464	181910157	573	4189											
WDR78	79819	broad.mit.edu	37	1	67356837	67356837	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:67356837C>A	ENST00000371026.3	-	4	698	c.643G>T	c.(643-645)Gat>Tat	p.D215Y	WDR78_ENST00000371023.3_Splice_Site_p.D215Y|WDR78_ENST00000371022.3_Splice_Site_p.D215Y|WDR78_ENST00000431318.1_5'UTR	NM_024763.4	NP_079039.4	Q5VTH9	WDR78_HUMAN	WD repeat domain 78	215										NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3)	32						TTTTCATTACCTGTGAAACTA	0.328													54	78					2.43277e-16	3.12305e-16	1	1	0	A	67356837	C	A	67356837	5	1	81	1	0	0	0	0	0	0	1	0	17388	695	24	4	2016	4	WDR78	1	67356837	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	16373	67356837	181893784	574	4190											
MIER1	57708	broad.mit.edu	37	1	67411875	67411875	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:67411875C>A	ENST00000357692.2	+	5	385	c.128C>A	c.(127-129)gCt>gAt	p.A43D	MIER1_ENST00000371014.1_Missense_Mutation_p.A79D|MIER1_ENST00000371012.2_Missense_Mutation_p.A43D|MIER1_ENST00000401042.3_Missense_Mutation_p.A26D|MIER1_ENST00000479067.1_3'UTR|MIER1_ENST00000355356.3_Missense_Mutation_p.A26D|MIER1_ENST00000355977.6_Intron|MIER1_ENST00000371018.3_Missense_Mutation_p.A43D|MIER1_ENST00000401041.1_Missense_Mutation_p.A79D|MIER1_ENST00000371016.1_Missense_Mutation_p.A43D	NM_001146110.1	NP_001139582.1	Q8N108	MIER1_HUMAN	mesoderm induction early response 1, transcriptional regulator	50					positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|urinary_tract(3)	15						GATCCATCAGCTGACATGCTG	0.353													8	99					0.00621372	0.00649472	1	1	0	A	67411875	C	A	67411875	3	1	81	1	0	0	0	0	1	0	0	0	9628	797	28	4	327	4	MIER1	1	67411875	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	55038	67411875	181838746	575	4191											
SLC35D1	23169	broad.mit.edu	37	1	67470071	67470071	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:67470071C>T	ENST00000235345.5	-	12	1105	c.1020G>A	c.(1018-1020)caG>caA	p.Q340Q		NM_015139.2	NP_055954.1	Q9NTN3	S35D1_HUMAN	solute carrier family 35 (UDP-GlcA/UDP-GalNAc transporter), member D1	340					chondroitin sulfate biosynthetic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process	integral to endoplasmic reticulum membrane	UDP-glucuronic acid transmembrane transporter activity|UDP-N-acetylgalactosamine transmembrane transporter activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(4)	10					Lorazepam(DB00186)	TAGCCTCTGACTGTTTGCTCA	0.448													20	38					0	0	1	0	0	T	67470071	C	T	67470071	2	4	81	1	0	0	0	0	0	0	0	1	14636	564	20	2		2	SLC35D1	1	67470071	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	58196	67470071	181780550	576	4192											
SLC35D1	23169	broad.mit.edu	37	1	67474798	67474798	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:67474798G>A	ENST00000235345.5	-	11	1014	c.929C>T	c.(928-930)aCg>aTg	p.T310M	SLC35D1_ENST00000506472.2_Missense_Mutation_p.T231M	NM_015139.2	NP_055954.1	Q9NTN3	S35D1_HUMAN	solute carrier family 35 (UDP-GlcA/UDP-GalNAc transporter), member D1	310					chondroitin sulfate biosynthetic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process	integral to endoplasmic reticulum membrane	UDP-glucuronic acid transmembrane transporter activity|UDP-N-acetylgalactosamine transmembrane transporter activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(4)	10					Lorazepam(DB00186)	GTTTGTCCACGTGAAAATATA	0.249													6	16					0	0	1	0	0	A	67474798	G	A	67474798	3	1	81	1	0	0	0	0	1	0	0	0	14636	1145	40	1	146	1	SLC35D1	1	67474798	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	4727	67474798	181775823	577	4193											
SLC35D1	23169	broad.mit.edu	37	1	67486098	67486098	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:67486098G>A	ENST00000235345.5	-	10	915	c.830C>T	c.(829-831)aCg>aTg	p.T277M	SLC35D1_ENST00000506472.2_Missense_Mutation_p.T198M	NM_015139.2	NP_055954.1	Q9NTN3	S35D1_HUMAN	solute carrier family 35 (UDP-GlcA/UDP-GalNAc transporter), member D1	277					chondroitin sulfate biosynthetic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process	integral to endoplasmic reticulum membrane	UDP-glucuronic acid transmembrane transporter activity|UDP-N-acetylgalactosamine transmembrane transporter activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(4)	10					Lorazepam(DB00186)	ATTATACTGCGTGCAGAGTAC	0.333													7	62					0	0	1	0	0	A	67486098	G	A	67486098	3	1	81	1	0	0	0	0	1	0	0	0	14636	1145	40	1	249	1	SLC35D1	1	67486098	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	11300	67486098	181764523	578	4194											
SLC35D1	23169	broad.mit.edu	37	1	67513002	67513002	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:67513002G>A	ENST00000235345.5	-	7	667	c.582C>T	c.(580-582)aaC>aaT	p.N194N	SLC35D1_ENST00000506472.2_Silent_p.N115N	NM_015139.2	NP_055954.1	Q9NTN3	S35D1_HUMAN	solute carrier family 35 (UDP-GlcA/UDP-GalNAc transporter), member D1	194					chondroitin sulfate biosynthetic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process	integral to endoplasmic reticulum membrane	UDP-glucuronic acid transmembrane transporter activity|UDP-N-acetylgalactosamine transmembrane transporter activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(4)	10					Lorazepam(DB00186)	TTAGGACATCGTTTATCAGAA	0.338													25	31					0	0	1	0	0	A	67513002	G	A	67513002	2	1	81	1	0	0	0	0	0	0	0	1	14636	1136	40	1		1	SLC35D1	1	67513002	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	26904	67513002	181737619	579	4195											
SLC35D1	23169	broad.mit.edu	37	1	67519552	67519552	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:67519552A>G	ENST00000235345.5	-	1	230	c.145T>C	c.(145-147)Tac>Cac	p.Y49H		NM_015139.2	NP_055954.1	Q9NTN3	S35D1_HUMAN	solute carrier family 35 (UDP-GlcA/UDP-GalNAc transporter), member D1	49					chondroitin sulfate biosynthetic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process	integral to endoplasmic reticulum membrane	UDP-glucuronic acid transmembrane transporter activity|UDP-N-acetylgalactosamine transmembrane transporter activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(4)	10					Lorazepam(DB00186)	CTCACGCCGTAAAAGCCGGCG	0.647													4	17					0	0	1	0	0	G	67519552	A	G	67519552	3	3	81	1	0	0	0	0	1	0	0	0	14636	362	13	3	970	3	SLC35D1	1	67519552	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	6550	67519552	181731069	580	4196											
IL23R	149233	broad.mit.edu	37	1	67633832	67633832	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:67633832C>T	ENST00000347310.5	+	2	200	c.29C>T	c.(28-30)gCa>gTa	p.A10V	IL23R_ENST00000371002.1_Missense_Mutation_p.A10V|C1orf141_ENST00000371007.2_Intron	NM_144701.2	NP_653302.2	Q5VWK5	IL23R_HUMAN	interleukin 23 receptor	10					inflammatory response|negative regulation of interleukin-10 production|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of interleukin-12 production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|response to interferon-gamma|response to lipopolysaccharide	interleukin-23 receptor complex	receptor activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	21						CAATGGGATGCAGTAATAGCC	0.343													49	69					0	0	1	0	0	T	67633832	C	T	67633832	3	4	81	1	0	0	0	0	1	0	0	0	7720	710	25	2	31	2	IL23R	1	67633832	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	114280	67633832	181616789	581	4197											
IL23R	149233	broad.mit.edu	37	1	67724231	67724231	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:67724231T>A	ENST00000347310.5	+	11	1481	c.1310T>A	c.(1309-1311)aTa>aAa	p.I437K	IL23R_ENST00000473881.1_3'UTR|IL23R_ENST00000371002.1_3'UTR|IL23R_ENST00000395227.1_Missense_Mutation_p.I182K	NM_144701.2	NP_653302.2	Q5VWK5	IL23R_HUMAN	interleukin 23 receptor	437					inflammatory response|negative regulation of interleukin-10 production|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of interleukin-12 production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|response to interferon-gamma|response to lipopolysaccharide	interleukin-23 receptor complex	receptor activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	21						ATTACAGAGATAAAAGAAATC	0.388													5	136					0	0	1	0	0	A	67724231	T	A	67724231	3	1	81	1	0	0	0	0	1	0	0	0	7720	1406	49	4	1348	4	IL23R	1	67724231	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	90399	67724231	181526390	582	4198											
IL23R	149233	broad.mit.edu	37	1	67724629	67724629	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:67724629G>T	ENST00000347310.5	+	11	1879	c.1708G>T	c.(1708-1710)Gaa>Taa	p.E570*	IL23R_ENST00000473881.1_3'UTR|IL23R_ENST00000371002.1_3'UTR|IL23R_ENST00000395227.1_Nonsense_Mutation_p.E315*	NM_144701.2	NP_653302.2	Q5VWK5	IL23R_HUMAN	interleukin 23 receptor	570					inflammatory response|negative regulation of interleukin-10 production|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of interleukin-12 production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|response to interferon-gamma|response to lipopolysaccharide	interleukin-23 receptor complex	receptor activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	21						AGTAGAGGAGGAAACCACCAT	0.398													18	62					1.02788e-11	1.2764e-11	1	1	0	T	67724629	G	T	67724629	4	4	81	1	0	0	0	0	0	1	0	0	7720	1175	41	5	1746	5	IL23R	1	67724629	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	398	67724629	181525992	583	4199											
IL23R	149233	broad.mit.edu	37	1	67724722	67724722	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:67724722G>A	ENST00000347310.5	+	11	1972	c.1801G>A	c.(1801-1803)Gtg>Atg	p.V601M	IL23R_ENST00000473881.1_3'UTR|IL23R_ENST00000371002.1_3'UTR|IL23R_ENST00000395227.1_Missense_Mutation_p.V346M	NM_144701.2	NP_653302.2	Q5VWK5	IL23R_HUMAN	interleukin 23 receptor	601					inflammatory response|negative regulation of interleukin-10 production|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of interleukin-12 production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|response to interferon-gamma|response to lipopolysaccharide	interleukin-23 receptor complex	receptor activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	21						TTTGGGGATCGTGAATGAGGA	0.403													26	60					0	0	1	0	0	A	67724722	G	A	67724722	3	1	81	1	0	0	0	0	1	0	0	0	7720	1145	40	1	1839	1	IL23R	1	67724722	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	93	67724722	181525899	584	4200											
IL12RB2	3595	broad.mit.edu	37	1	67786068	67786068	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:67786068G>A	ENST00000262345.1	+	2	657	c.17G>A	c.(16-18)aGa>aAa	p.R6K	IL12RB2_ENST00000541374.1_Missense_Mutation_p.R6K|IL12RB2_ENST00000371000.1_Missense_Mutation_p.R6K|IL12RB2_ENST00000544434.1_Missense_Mutation_p.R6K	NM_001559.2	NP_001550.1	Q99665	I12R2_HUMAN	interleukin 12 receptor, beta 2	6					positive regulation of cell proliferation|positive regulation of interferon-gamma production	integral to plasma membrane	cytokine receptor activity			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(21)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	45						CATACTTTTAGAGGATGCTCA	0.328													45	67					0	0	1	0	0	A	67786068	G	A	67786068	3	1	81	1	0	0	0	0	1	0	0	0	7671	942	33	2	19	2	IL12RB2	1	67786068	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	61346	67786068	181464553	585	4201											
DEPDC1	55635	broad.mit.edu	37	1	68943596	68943596	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:68943596C>A	ENST00000456315.2	-	11	2286	c.2172G>T	c.(2170-2172)caG>caT	p.Q724H	DEPDC1_ENST00000370966.5_Missense_Mutation_p.Q440H	NM_001114120.1	NP_001107592.1	Q5TB30	DEP1A_HUMAN	DEP domain containing 1	724					intracellular signal transduction|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	GTPase activator activity|protein binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(397;7.21e-36)		GAGCACTAATCTGCTTACAGT	0.348													11	188					2.80697e-09	3.37799e-09	1	1	0	A	68943596	C	A	68943596	3	1	81	1	0	0	0	0	1	0	0	0	4467	912	32	4	271	4	DEPDC1	1	68943596	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1157528	68943596	180307025	586	4202											
DEPDC1	55635	broad.mit.edu	37	1	68948463	68948463	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:68948463T>C	ENST00000456315.2	-	8	1142	c.1028A>G	c.(1027-1029)gAg>gGg	p.E343G	DEPDC1_ENST00000370966.5_Intron|RP4-694A7.2_ENST00000425820.1_RNA	NM_001114120.1	NP_001107592.1	Q5TB30	DEP1A_HUMAN	DEP domain containing 1	343					intracellular signal transduction|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	GTPase activator activity|protein binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(397;7.21e-36)		AAGAAGGCACTCAGTTGATTT	0.348													11	74					0	0	1	0	0	C	68948463	T	C	68948463	3	2	81	1	0	0	0	0	1	0	0	0	4467	1551	54	3	1427	3	DEPDC1	1	68948463	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	4867	68948463	180302158	587	4203											
LRRC7	57554	broad.mit.edu	37	1	70555435	70555435	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:70555435C>A	ENST00000310961.5	+	25	4656	c.4238C>A	c.(4237-4239)cCt>cAt	p.P1413H	LRRC7_ENST00000415775.2_Missense_Mutation_p.P739H|LRRC7_ENST00000035383.5_Missense_Mutation_p.P1455H			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	1455						centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						GAAAAGAATCCTGGCCTTGGA	0.294													5	54					1.06961e-07	1.25755e-07	1	1	0	A	70555435	C	A	70555435	3	1	81	1	0	0	0	0	1	0	0	0	9065	681	24	4	4454	4	LRRC7	1	70555435	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1606972	70555435	178695186	588	4204											
LRRC40	55631	broad.mit.edu	37	1	70614326	70614326	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:70614326C>T	ENST00000370952.3	-	14	1626	c.1547G>A	c.(1546-1548)cGt>cAt	p.R516H		NM_017768.4	NP_060238.3	Q9H9A6	LRC40_HUMAN	leucine rich repeat containing 40	516								p.R516H(1)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(2)	27						TGTGAAGATACGATATAGAAC	0.338													6	67					0	0	1	0	0	T	70614326	C	T	70614326	3	4	81	1	0	0	0	0	1	0	0	0	9043	536	19	1	269	1	LRRC40	1	70614326	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	58891	70614326	178636295	589	4205											
ANKRD13C	81573	broad.mit.edu	37	1	70736577	70736577	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:70736577A>G	ENST00000370944.4	-	12	1770	c.1457T>C	c.(1456-1458)gTt>gCt	p.V486A	ANKRD13C_ENST00000262346.6_Missense_Mutation_p.V451A|ANKRD13C_ENST00000464236.1_5'UTR	NM_030816.4	NP_110443.3	Q8N6S4	AN13C_HUMAN	ankyrin repeat domain 13C	486					protein retention in ER lumen|regulation of anoikis|regulation of receptor biosynthetic process	endoplasmic reticulum membrane|perinuclear region of cytoplasm	receptor binding			endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	19						CTTCATCTGAACAAATTCTCT	0.308													15	20					0	0	1	0	0	G	70736577	A	G	70736577	3	3	81	1	0	0	0	0	1	0	0	0	639	43	2	3	176	3	ANKRD13C	1	70736577	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	122251	70736577	178514044	590	4206											
ANKRD13C	81573	broad.mit.edu	37	1	70758150	70758150	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:70758150C>A	ENST00000370944.4	-	9	1449	c.1136G>T	c.(1135-1137)aGt>aTt	p.S379I	ANKRD13C_ENST00000262346.6_Missense_Mutation_p.S344I	NM_030816.4	NP_110443.3	Q8N6S4	AN13C_HUMAN	ankyrin repeat domain 13C	379					protein retention in ER lumen|regulation of anoikis|regulation of receptor biosynthetic process	endoplasmic reticulum membrane|perinuclear region of cytoplasm	receptor binding			endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	19						ATCCTCTTCACTGAGATGTTC	0.333													20	40					4.35082e-09	5.22652e-09	1	1	0	A	70758150	C	A	70758150	3	1	81	1	0	0	0	0	1	0	0	0	639	565	20	4	509	4	ANKRD13C	1	70758150	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	21573	70758150	178492471	591	4207											
CTH	1491	broad.mit.edu	37	1	70883695	70883695	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:70883695G>A	ENST00000370938.3	+	3	470	c.326G>A	c.(325-327)tGt>tAt	p.C109Y	CTH_ENST00000346806.2_Missense_Mutation_p.C109Y|CTH_ENST00000464926.1_Intron|CTH_ENST00000411986.2_Intron	NM_001902.5	NP_001893.2	P32929	CGL_HUMAN	cystathionase (cystathionine gamma-lyase)	109					cysteine biosynthetic process|hydrogen sulfide biosynthetic process|protein homotetramerization|protein-pyridoxal-5-phosphate linkage via peptidyl-N6-pyridoxal phosphate-L-lysine	cytoplasm|nucleus	cystathionine gamma-lyase activity|L-cysteine desulfhydrase activity|pyridoxal phosphate binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	18					L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114)	CAAATTATTTGTATGGATGAT	0.333													42	46					0	0	1	0	0	A	70883695	G	A	70883695	3	1	81	1	0	0	0	0	1	0	0	0	4033	1377	48	2	336	2	CTH	1	70883695	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	125545	70883695	178366926	592	4208											
PTGER3	5733	broad.mit.edu	37	1	71512530	71512530	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:71512530A>G	ENST00000370924.4	-	1	961	c.731T>C	c.(730-732)gTc>gCc	p.V244A	PTGER3_ENST00000370931.3_Missense_Mutation_p.V244A|PTGER3_ENST00000306666.5_Missense_Mutation_p.V244A|PTGER3_ENST00000356595.4_Missense_Mutation_p.V244A|PTGER3_ENST00000351052.5_Missense_Mutation_p.V244A|PTGER3_ENST00000370932.2_Missense_Mutation_p.V244A|PTGER3_ENST00000354608.5_Missense_Mutation_p.V244A|PTGER3_ENST00000414819.1_Missense_Mutation_p.V244A|PTGER3_ENST00000460330.1_Missense_Mutation_p.V244A	NM_198715.2	NP_942008.1	P43115	PE2R3_HUMAN	prostaglandin E receptor 3 (subtype EP3)	244					cell death|positive regulation of fever generation|transcription, DNA-dependent	integral to plasma membrane|nuclear envelope	ligand-dependent nuclear receptor activity|prostaglandin E receptor activity			endometrium(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25					Bimatoprost(DB00905)	GGAAAAGGTGACTGTCAGCGC	0.637													27	52					0	0	1	0	0	G	71512530	A	G	71512530	3	3	81	1	0	0	0	0	1	0	0	0	12794	275	10	3	760	3	PTGER3	1	71512530	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	628835	71512530	177738091	593	4209											
PTGER3	5733	broad.mit.edu	37	1	71512568	71512568	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:71512568G>T	ENST00000370924.4	-	1	923	c.693C>A	c.(691-693)gcC>gcA	p.A231A	PTGER3_ENST00000370931.3_Silent_p.A231A|PTGER3_ENST00000306666.5_Silent_p.A231A|PTGER3_ENST00000356595.4_Silent_p.A231A|PTGER3_ENST00000351052.5_Silent_p.A231A|PTGER3_ENST00000370932.2_Silent_p.A231A|PTGER3_ENST00000354608.5_Silent_p.A231A|PTGER3_ENST00000414819.1_Silent_p.A231A|PTGER3_ENST00000460330.1_Silent_p.A231A	NM_198715.2	NP_942008.1	P43115	PE2R3_HUMAN	prostaglandin E receptor 3 (subtype EP3)	231					cell death|positive regulation of fever generation|transcription, DNA-dependent	integral to plasma membrane|nuclear envelope	ligand-dependent nuclear receptor activity|prostaglandin E receptor activity			endometrium(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25					Bimatoprost(DB00905)	CAAAGGCAGAGGCGAAGAAAA	0.627													5	77					3.59834e-05	3.99423e-05	1	1	0	T	71512568	G	T	71512568	2	4	81	1	0	0	0	0	0	0	0	1	12794	987	35	4		4	PTGER3	1	71512568	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	38	71512568	177738053	594	4210											
ZRANB2	9406	broad.mit.edu	37	1	71534977	71534977	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:71534977G>T	ENST00000370920.3	-	8	1053	c.752C>A	c.(751-753)tCt>tAt	p.S251Y	ZRANB2_ENST00000254821.6_Missense_Mutation_p.S251Y	NM_203350.2	NP_976225.1	O95218	ZRAB2_HUMAN	zinc finger, RAN-binding domain containing 2	251	Arg/Ser-rich.|Required for nuclear targeting.				mRNA processing|RNA splicing	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.S251C(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|stomach(1)	15						CGACCCACGAGATCTCGAACG	0.433													4	35					0.000602214	0.000646338	1	1	0	T	71534977	G	T	71534977	3	4	81	1	0	0	0	0	1	0	0	0	18265	942	33	4	290	4	ZRANB2	1	71534977	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	22409	71534977	177715644	595	4211											
NEGR1	257194	broad.mit.edu	37	1	72241855	72241855	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:72241855C>A	ENST00000357731.5	-	3	774	c.535G>T	c.(535-537)Gca>Tca	p.A179S	NEGR1_ENST00000467479.1_5'UTR|NEGR1_ENST00000306821.3_Splice_Site_p.A51S|NEGR1_ENST00000434200.1_Splice_Site_p.V177F	NM_173808.2	NP_776169.2	Q7Z3B1	NEGR1_HUMAN	neuronal growth regulator 1		Ig-like C2-type 2.				cell adhesion	anchored to membrane|plasma membrane				endometrium(1)|kidney(4)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(4;1.26e-06)|Renal(4;1.32e-08)|all_epithelial(4;5.39e-07)|Hepatocellular(141;0.117)		KIRC - Kidney renal clear cell carcinoma(4;0.00529)|Kidney(4;0.00609)|all cancers(265;0.022)|GBM - Glioblastoma multiforme(62;0.0382)|Epithelial(280;0.242)		CCTACTTTACCTGATGGGGAG	0.408													10	16					3.86212e-05	4.27865e-05	1	1	0	A	72241855	C	A	72241855	5	1	81	1	0	0	0	0	0	0	1	0	10364	695	24	4	549	4	NEGR1	1	72241855	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	706878	72241855	177008766	596	4212											
TNNI3K	51086	broad.mit.edu	37	1	74957842	74957842	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:74957842G>A	ENST00000370891.2	+	25	2562	c.2546G>A	c.(2545-2547)tGc>tAc	p.C849Y	TNNI3K_ENST00000326637.3_Missense_Mutation_p.C748Y|FPGT-TNNI3K_ENST00000557284.2_Missense_Mutation_p.C862Y|LRRC53_ENST00000294635.4_Intron	NM_001112808.2	NP_001106279.2			TNNI3 interacting kinase											cervix(1)|endometrium(3)|kidney(5)|large_intestine(21)|lung(31)|ovary(4)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	76						TCTTCTGATTGCCTGGTGAAC	0.478													63	93					0	0	1	0	0	A	74957842	G	A	74957842	3	1	81	1	0	0	0	0	1	0	0	0	16389	1319	46	2	2688	2	TNNI3K	1	74957842	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2715987	74957842	174292779	597	4213											
C1orf173	127254	broad.mit.edu	37	1	75039011	75039011	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:75039011C>T	ENST00000326665.5	-	14	2601	c.2383G>A	c.(2383-2385)Gca>Aca	p.A795T	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	795	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						CACAGTGCTGCCTCCCCTTTT	0.507													5	97					0	0	1	0	0	T	75039011	C	T	75039011	3	4	81	1	0	0	0	0	1	0	0	0	2027	739	26	2	2213	2	C1orf173	1	75039011	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	81169	75039011	174211610	598	4214											
C1orf173	127254	broad.mit.edu	37	1	75039105	75039105	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:75039105C>T	ENST00000326665.5	-	14	2507	c.2289G>A	c.(2287-2289)gtG>gtA	p.V763V	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	763	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						ACGTTTTTTGCACCAATTGCT	0.423													8	86					0	0	1	0	0	T	75039105	C	T	75039105	2	4	81	1	0	0	0	0	0	0	0	1	2027	697	25	2		2	C1orf173	1	75039105	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	94	75039105	174211516	599	4215											
TYW3	127253	broad.mit.edu	37	1	75229674	75229675	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:75229674_75229675insA	ENST00000370867.3	+	6	746_747	c.657_658insA	c.(658-660)aaafs	p.K220fs	TYW3_ENST00000421739.2_Frame_Shift_Ins_p.K136fs|TYW3_ENST00000457880.2_Frame_Shift_Ins_p.K187fs|TYW3_ENST00000479111.1_Frame_Shift_Ins_p.K100fs|TYW3_ENST00000467646.1_3'UTR	NM_138467.2	NP_612476.1	Q6IPR3	TYW3_HUMAN	tRNA-yW synthesizing protein 3 homolog (S. cerevisiae)	220					tRNA processing		methyltransferase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|ovary(2)|prostate(1)|skin(1)	15						ATATTCATAAGAAAAAAAGAAA	0.342													30	60	---	---	---	---						A	75229675	-	A	75229674	7	5	81	1	0	1	1	0	0	0	0	0	16881	933	33	0	679	0	TYW3	1	75229674	Frame_Shift_Ins	INS	-	TCGA-DU-6392-01A-11D-1705-08	190569	75229674	174020947	600	4216											
LHX8	431707	broad.mit.edu	37	1	75622580	75622580	+	Silent	SNP	G	G	A	rs79714503	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:75622580G>A	ENST00000294638.5	+	9	1477	c.813G>A	c.(811-813)gtG>gtA	p.V271V	LHX8_ENST00000356261.3_Silent_p.V261V	NM_001001933.1	NP_001001933.1	Q68G74	LHX8_HUMAN	LIM homeobox 8	271						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(18)|ovary(3)|urinary_tract(1)	30						CTGCTCAGGTGTGGTTTCAGA	0.483													27	54					0	0	1	0	0	A	75622580	G	A	75622580	2	1	81	1	0	0	0	0	0	0	0	1	8816	1364	48	2		2	LHX8	1	75622580	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	392906	75622580	173628041	601	4217											
SLC44A5	204962	broad.mit.edu	37	1	75699770	75699770	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:75699770C>T	ENST00000370855.5	-	12	867	c.754G>A	c.(754-756)Gcc>Acc	p.A252T	SLC44A5_ENST00000535611.1_Missense_Mutation_p.A122T|SLC44A5_ENST00000370859.3_Missense_Mutation_p.A252T	NM_152697.4	NP_689910.2	Q8NCS7	CTL5_HUMAN	solute carrier family 44, member 5	252						integral to membrane|plasma membrane	choline transmembrane transporter activity			kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						AGGACCATGGCAATCGTCAGG	0.388													28	40					0	0	1	0	0	T	75699770	C	T	75699770	3	4	81	1	0	0	0	0	1	0	0	0	14694	710	25	2	1568	2	SLC44A5	1	75699770	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	77190	75699770	173550851	602	4218											
ACADM	34	broad.mit.edu	37	1	76205769	76205769	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:76205769G>A	ENST00000370841.4	+	7	1010	c.573G>A	c.(571-573)tgG>tgA	p.W191*	ACADM_ENST00000543667.1_Nonsense_Mutation_p.W2*|ACADM_ENST00000420607.2_Nonsense_Mutation_p.W195*|ACADM_ENST00000370834.5_Nonsense_Mutation_p.W224*|ACADM_ENST00000541113.1_Nonsense_Mutation_p.W155*	NM_000016.4|NM_001127328.1	NP_000007.1|NP_001120800.1	P11310	ACADM_HUMAN	acyl-CoA dehydrogenase, C-4 to C-12 straight chain	191					carnitine biosynthetic process|carnitine metabolic process, CoA-linked|fatty acid beta-oxidation using acyl-CoA dehydrogenase|medium-chain fatty acid catabolic process	mitochondrial matrix	flavin adenine dinucleotide binding|identical protein binding|medium-chain-acyl-CoA dehydrogenase activity			breast(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|skin(1)	18						AGAAGATGTGGATAACCAACG	0.333													4	97					0	0	1	0	0	A	76205769	G	A	76205769	4	1	81	1	0	0	0	0	0	1	0	0	113	1183	41	2	611	2	ACADM	1	76205769	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	505999	76205769	173044852	603	4219											
ACADM	34	broad.mit.edu	37	1	76211522	76211522	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:76211522C>T	ENST00000370841.4	+	8	1068	c.631C>T	c.(631-633)Cct>Tct	p.P211S	ACADM_ENST00000543667.1_Missense_Mutation_p.P22S|ACADM_ENST00000420607.2_Missense_Mutation_p.P215S|ACADM_ENST00000370834.5_Missense_Mutation_p.P244S|ACADM_ENST00000541113.1_Missense_Mutation_p.P175S	NM_000016.4|NM_001127328.1	NP_000007.1|NP_001120800.1	P11310	ACADM_HUMAN	acyl-CoA dehydrogenase, C-4 to C-12 straight chain	211					carnitine biosynthetic process|carnitine metabolic process, CoA-linked|fatty acid beta-oxidation using acyl-CoA dehydrogenase|medium-chain fatty acid catabolic process	mitochondrial matrix	flavin adenine dinucleotide binding|identical protein binding|medium-chain-acyl-CoA dehydrogenase activity			breast(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|skin(1)	18						TGATCCAGATCCTAAAGCTCC	0.378													31	81					0	0	1	0	0	T	76211522	C	T	76211522	3	4	81	1	0	0	0	0	1	0	0	0	113	855	30	2	673	2	ACADM	1	76211522	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	5753	76211522	173039099	604	4220											
MSH4	4438	broad.mit.edu	37	1	76280818	76280818	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:76280818C>T	ENST00000263187.3	+	5	916	c.812C>T	c.(811-813)tCc>tTc	p.S271F		NM_002440.3	NP_002431.2	O15457	MSH4_HUMAN	mutS homolog 4	271					chiasma assembly|homologous chromosome segregation|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding			breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	47						GAGGTTCAGTCCAAGTAAGtt	0.313								Mismatch excision repair (MMR)					11	61					0	0	1	0	0	T	76280818	C	T	76280818	3	4	81	1	0	0	0	0	1	0	0	0	9921	855	30	2	830	2	MSH4	1	76280818	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	69296	76280818	172969803	605	4221											
ASB17	127247	broad.mit.edu	37	1	76397592	76397592	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:76397592G>A	ENST00000284142.6	-	1	524	c.385C>T	c.(385-387)Ctg>Ttg	p.L129L		NM_080868.2	NP_543144.1	Q8WXJ9	ASB17_HUMAN	ankyrin repeat and SOCS box containing 17	129					intracellular signal transduction					breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	21						ATCAGTGCCAGGTTACAACTT	0.338													21	43					0	0	1	0	0	A	76397592	G	A	76397592	2	1	81	1	0	0	0	0	0	0	0	1	1020	991	35	2		2	ASB17	1	76397592	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	116774	76397592	172853029	606	4222											
ST6GALNAC3	256435	broad.mit.edu	37	1	76877904	76877905	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:76877904_76877905insT	ENST00000328299.3	+	3	573_574	c.425_426insT	c.(424-429)tattttfs	p.YF142fs	ST6GALNAC3_ENST00000464140.1_3'UTR	NM_152996.2	NP_694541.2	Q8NDV1	SIA7C_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3	142					protein glycosylation	integral to Golgi membrane	sialyltransferase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|ovary(3)|prostate(1)|skin(2)	36						AACCCTGATTATTTTTTCAAGG	0.411													32	119	---	---	---	---						T	76877905	-	T	76877904	7	5	81	1	0	1	1	0	0	0	0	0	15281	449	16	0	435	0	ST6GALNAC3	1	76877904	Frame_Shift_Ins	INS	-	TCGA-DU-6392-01A-11D-1705-08	480312	76877904	172372717	607	4223											
AK5	26289	broad.mit.edu	37	1	77759556	77759556	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:77759556A>G	ENST00000344720.5	+	3	1274	c.248A>G	c.(247-249)gAc>gGc	p.D83G	AK5_ENST00000354567.2_Missense_Mutation_p.D109G|AK5_ENST00000317704.4_3'UTR	NM_012093.3	NP_036225.2	Q9Y6K8	KAD5_HUMAN	adenylate kinase 5	109					ADP biosynthetic process|ATP metabolic process|dADP biosynthetic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine ribonucleotide biosynthetic process|signal transduction	centrosome|cytosol	adenylate kinase activity|ATP binding|cAMP-dependent protein kinase regulator activity|nucleoside kinase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|prostate(1)|skin(2)|stomach(1)	40						ATAGAAAGTGACACGGATCTC	0.423													25	54					0	0	1	0	0	G	77759556	A	G	77759556	3	3	81	1	0	0	0	0	1	0	0	0	440	275	10	3	336	3	AK5	1	77759556	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	881652	77759556	171491065	608	4224											
AK5	26289	broad.mit.edu	37	1	77984313	77984313	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:77984313T>G	ENST00000344720.5	+	11	2160	c.1134T>G	c.(1132-1134)caT>caG	p.H378Q	AK5_ENST00000354567.2_Missense_Mutation_p.H404Q	NM_012093.3	NP_036225.2	Q9Y6K8	KAD5_HUMAN	adenylate kinase 5	404					ADP biosynthetic process|ATP metabolic process|dADP biosynthetic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine ribonucleotide biosynthetic process|signal transduction	centrosome|cytosol	adenylate kinase activity|ATP binding|cAMP-dependent protein kinase regulator activity|nucleoside kinase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|prostate(1)|skin(2)|stomach(1)	40						GATTTACACATCTCTCAACTG	0.473													3	47					0	0	1	0	0	G	77984313	T	G	77984313	3	3	81	1	0	0	0	0	1	0	0	0	440	1432	50	4	1254	4	AK5	1	77984313	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	224757	77984313	171266308	609	4225											
ZZZ3	26009	broad.mit.edu	37	1	78041867	78041867	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:78041867A>G	ENST00000370801.3	-	12	2692	c.2217T>C	c.(2215-2217)caT>caC	p.H739H	ZZZ3_ENST00000370798.1_Silent_p.H245H|ZZZ3_ENST00000476275.1_5'UTR	NM_015534.4	NP_056349.1	Q8IYH5	ZZZ3_HUMAN	zinc finger, ZZ-type containing 3	739					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(2)	39						GCTTAAAGAGATGCTTATTAA	0.363													12	173					0	0	1	0	0	G	78041867	A	G	78041867	2	3	81	1	0	0	0	0	0	0	0	1	18296	330	12	3		3	ZZZ3	1	78041867	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	57554	78041867	171208754	610	4226											
ZZZ3	26009	broad.mit.edu	37	1	78045282	78045282	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:78045282G>T	ENST00000370801.3	-	10	2487	c.2012C>A	c.(2011-2013)cCt>cAt	p.P671H	ZZZ3_ENST00000370798.1_Missense_Mutation_p.P177H|ZZZ3_ENST00000476275.1_5'UTR	NM_015534.4	NP_056349.1	Q8IYH5	ZZZ3_HUMAN	zinc finger, ZZ-type containing 3	671	HTH myb-type.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(2)	39						TTCTTCAGGAGGGTATTTGAT	0.373													30	183					5.60225e-13	7.04216e-13	1	1	0	T	78045282	G	T	78045282	3	4	81	1	0	0	0	0	1	0	0	0	18296	1000	35	4	723	4	ZZZ3	1	78045282	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	3415	78045282	171205339	611	4227											
ZZZ3	26009	broad.mit.edu	37	1	78046696	78046696	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:78046696G>A	ENST00000370801.3	-	9	2442	c.1967C>T	c.(1966-1968)aCt>aTt	p.T656I	ZZZ3_ENST00000370798.1_Missense_Mutation_p.T162I|ZZZ3_ENST00000476275.1_5'UTR	NM_015534.4	NP_056349.1	Q8IYH5	ZZZ3_HUMAN	zinc finger, ZZ-type containing 3	656	HTH myb-type.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(2)	39						TTCTTCAACAGTCCACAACTG	0.373													45	130					0	0	1	0	0	A	78046696	G	A	78046696	3	1	81	1	0	0	0	0	1	0	0	0	18296	1029	36	2	772	2	ZZZ3	1	78046696	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1414	78046696	171203925	612	4228											
ZZZ3	26009	broad.mit.edu	37	1	78098585	78098585	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:78098585T>A	ENST00000370801.3	-	5	930	c.455A>T	c.(454-456)gAc>gTc	p.D152V	ZZZ3_ENST00000370798.1_Intron	NM_015534.4	NP_056349.1	Q8IYH5	ZZZ3_HUMAN	zinc finger, ZZ-type containing 3	152					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(2)	39						TGCATCATTGTCCACTACTGT	0.388													10	252					0	0	1	0	0	A	78098585	T	A	78098585	3	1	81	1	0	0	0	0	1	0	0	0	18296	1667	58	5	2300	5	ZZZ3	1	78098585	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	51889	78098585	171152036	613	4229											
USP33	23032	broad.mit.edu	37	1	78180376	78180376	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:78180376C>T	ENST00000370793.1	-	20	2577	c.2231G>A	c.(2230-2232)cGa>cAa	p.R744Q	USP33_ENST00000370794.3_Missense_Mutation_p.R713Q|USP33_ENST00000370792.3_Missense_Mutation_p.R736Q|USP33_ENST00000357428.1_Missense_Mutation_p.R744Q	NM_015017.4	NP_055832.3	Q8TEY7	UBP33_HUMAN	ubiquitin specific peptidase 33	744	DUSP 1.				axon guidance|cell migration|endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm|VCB complex	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	44						AAGCCACTGTCGAGAAATATA	0.373													37	86					0	0	1	0	0	T	78180376	C	T	78180376	3	4	81	1	0	0	0	0	1	0	0	0	17124	884	31	1	633	1	USP33	1	78180376	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	81791	78180376	171070245	614	4230											
USP33	23032	broad.mit.edu	37	1	78183609	78183609	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:78183609C>A	ENST00000370793.1	-	18	2300	c.1954G>T	c.(1954-1956)Gct>Tct	p.A652S	USP33_ENST00000370794.3_Missense_Mutation_p.A621S|USP33_ENST00000370792.3_Missense_Mutation_p.A644S|USP33_ENST00000357428.1_Missense_Mutation_p.A652S	NM_015017.4	NP_055832.3	Q8TEY7	UBP33_HUMAN	ubiquitin specific peptidase 33	652					axon guidance|cell migration|endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm|VCB complex	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	44						ACAATTTGAGCTGGACTATCC	0.363													49	134					2.27781e-18	2.95383e-18	1	1	0	A	78183609	C	A	78183609	3	1	81	1	0	0	0	0	1	0	0	0	17124	797	28	4	918	4	USP33	1	78183609	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3233	78183609	171067012	615	4231											
FAM73A	374986	broad.mit.edu	37	1	78272689	78272689	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:78272689C>T	ENST00000370791.3	+	5	572	c.540C>T	c.(538-540)tgC>tgT	p.C180C	FAM73A_ENST00000443751.2_Silent_p.C142C	NM_001270384.1|NM_198549.3	NP_001257313.1|NP_940951.1	Q8NAN2	FA73A_HUMAN	family with sequence similarity 73, member A	180						integral to membrane				breast(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	19				Colorectal(170;0.226)		GTCATAGCTGCGCTTGTGGCA	0.348													7	162					0	0	1	0	0	T	78272689	C	T	78272689	2	4	81	1	0	0	0	0	0	0	0	1	5651	776	27	1		1	FAM73A	1	78272689	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	89080	78272689	170977932	616	4232											
FAM73A	374986	broad.mit.edu	37	1	78309003	78309003	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:78309003G>T	ENST00000370791.3	+	8	939	c.907G>T	c.(907-909)Gat>Tat	p.D303Y	FAM73A_ENST00000443751.2_Missense_Mutation_p.D265Y	NM_001270384.1|NM_198549.3	NP_001257313.1|NP_940951.1	Q8NAN2	FA73A_HUMAN	family with sequence similarity 73, member A	303						integral to membrane				breast(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	19				Colorectal(170;0.226)		TAAAGATACAGATATCACCAT	0.403													23	46					1.96895e-08	2.34134e-08	1	1	0	T	78309003	G	T	78309003	3	4	81	1	0	0	0	0	1	0	0	0	5651	942	33	4	937	4	FAM73A	1	78309003	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	36314	78309003	170941618	617	4233											
FAM73A	374986	broad.mit.edu	37	1	78324657	78324657	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:78324657G>T	ENST00000370791.3	+	9	1063	c.1031G>T	c.(1030-1032)aGc>aTc	p.S344I	FAM73A_ENST00000443751.2_Missense_Mutation_p.S306I	NM_001270384.1|NM_198549.3	NP_001257313.1|NP_940951.1	Q8NAN2	FA73A_HUMAN	family with sequence similarity 73, member A	344						integral to membrane				breast(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	19				Colorectal(170;0.226)		CATACCTACAGCCTGGAGTCC	0.458													26	59					6.12954e-19	7.96923e-19	1	1	0	T	78324657	G	T	78324657	3	4	81	1	0	0	0	0	1	0	0	0	5651	971	34	4	1065	4	FAM73A	1	78324657	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	15654	78324657	170925964	618	4234											
NEXN	91624	broad.mit.edu	37	1	78383379	78383379	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:78383379C>T	ENST00000334785.7	+	3	340	c.156C>T	c.(154-156)gaC>gaT	p.D52D	NEXN_ENST00000330010.8_Intron|NEXN_ENST00000294624.8_Silent_p.D52D|NEXN_ENST00000457030.1_Silent_p.D52D	NM_144573.3	NP_653174.3	Q0ZGT2	NEXN_HUMAN	nexilin (F actin binding protein)	52	Glu-rich.				regulation of cell migration|regulation of cytoskeleton organization	cytoskeleton|Z disc	actin filament binding|structural constituent of muscle			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				Colorectal(170;0.114)		GATCTAGAGACGAAAAACAAA	0.353													13	48					0	0	1	0	0	T	78383379	C	T	78383379	2	4	81	1	0	0	0	0	0	0	0	1	10402	535	19	1		1	NEXN	1	78383379	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	58722	78383379	170867242	619	4235											
NEXN	91624	broad.mit.edu	37	1	78392297	78392297	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:78392297G>A	ENST00000330010.8	+	6	792		c.e6+1		NEXN_ENST00000334785.7_Splice_Site|NEXN_ENST00000457030.1_Splice_Site	NM_001172309.1	NP_001165780.1	Q0ZGT2	NEXN_HUMAN	nexilin (F actin binding protein)						regulation of cell migration|regulation of cytoskeleton organization	cytoskeleton|Z disc	actin filament binding|structural constituent of muscle			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				Colorectal(170;0.114)		ATTAGTTATGGTAAATTTTTG	0.323													84	59					0	0	1	0	0	A	78392297	G	A	78392297	5	1	81	1	0	0	0	0	0	0	1	0	10402	1275	44	2	710	2	NEXN	1	78392297	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	8918	78392297	170858324	620	4236											
FUBP1	8880	broad.mit.edu	37	1	78430754	78430754	+	Splice_Site	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:78430754T>G	ENST00000370767.1	-	8	722	c.635A>C	c.(634-636)cAg>cCg	p.Q212P	FUBP1_ENST00000436586.2_Splice_Site_p.Q233P|FUBP1_ENST00000370768.2_Splice_Site_p.Q212P			Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1	212	KH 2.				transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						TAACAATACCTGAAGCTGTTT	0.363			"F, N"		oligodendroglioma								11	202					0	0	1	0	0	G	78430754	T	G	78430754	5	3	81	1	0	0	0	0	0	0	1	0	6127	1594	55	5	1351	5	FUBP1	1	78430754	Splice_Site	SNP	T	TCGA-DU-6392-01A-11D-1705-08	38457	78430754	170819867	621	4237											
FUBP1	8880	broad.mit.edu	37	1	78433850	78433850	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:78433850G>A	ENST00000370767.1	-	3	336	c.249C>T	c.(247-249)gaC>gaT	p.D83D	FUBP1_ENST00000436586.2_Splice_Site_p.D104D|FUBP1_ENST00000370768.2_Splice_Site_p.D83D			Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1	83					transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding	p.?(1)		central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						AATACTTACAGTCATTTTGAG	0.318			"F, N"		oligodendroglioma								30	27					0	0	1	0	0	A	78433850	G	A	78433850	5	1	81	1	0	0	0	0	0	0	1	0	6127	1043	36	2	1757	2	FUBP1	1	78433850	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	3096	78433850	170816771	622	4238											
PTGFR	5737	broad.mit.edu	37	1	78958518	78958519	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:78958518_78958519insT	ENST00000370756.3	+	2	327_328	c.90_91insT	c.(91-93)tttfs	p.F31fs	PTGFR_ENST00000370758.1_Frame_Shift_Ins_p.F31fs|PTGFR_ENST00000370757.3_Frame_Shift_Ins_p.F31fs	NM_001039585.1	NP_001034674.1	P43088	PF2R_HUMAN	prostaglandin F receptor (FP)	31					parturition	extracellular region|integral to plasma membrane	prostaglandin F receptor activity			breast(6)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	33				Colorectal(170;0.248)	Bimatoprost(DB00905)|Latanoprost(DB00654)|Travoprost(DB00287)	GGCTTTCCGTATTTTTTTCAGT	0.45													27	96	---	---	---	---						T	78958519	-	T	78958518	7	5	81	1	0	1	1	0	0	0	0	0	12799	436	16	0	92	0	PTGFR	1	78958518	Frame_Shift_Ins	INS	-	TCGA-DU-6392-01A-11D-1705-08	524668	78958518	170292103	623	4239											
PTGFR	5737	broad.mit.edu	37	1	78958573	78958573	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:78958573G>A	ENST00000370756.3	+	2	382	c.145G>A	c.(145-147)Gcc>Acc	p.A49T	PTGFR_ENST00000370757.3_Missense_Mutation_p.A49T|PTGFR_ENST00000370758.1_Missense_Mutation_p.A49T	NM_001039585.1	NP_001034674.1	P43088	PF2R_HUMAN	prostaglandin F receptor (FP)	49					parturition	extracellular region|integral to plasma membrane	prostaglandin F receptor activity			breast(6)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	33				Colorectal(170;0.248)	Bimatoprost(DB00905)|Latanoprost(DB00654)|Travoprost(DB00287)	CCTTGCCATCGCCATTCTCAT	0.448													36	104					0	0	1	0	0	A	78958573	G	A	78958573	3	1	81	1	0	0	0	0	1	0	0	0	12799	1087	38	1	147	1	PTGFR	1	78958573	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	55	78958573	170292048	624	4240											
PTGFR	5737	broad.mit.edu	37	1	78958942	78958942	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:78958942C>A	ENST00000370756.3	+	2	751	c.514C>A	c.(514-516)Ctt>Att	p.L172I	PTGFR_ENST00000370757.3_Missense_Mutation_p.L172I|PTGFR_ENST00000370758.1_Missense_Mutation_p.L172I	NM_001039585.1	NP_001034674.1	P43088	PF2R_HUMAN	prostaglandin F receptor (FP)	172					parturition	extracellular region|integral to plasma membrane	prostaglandin F receptor activity			breast(6)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	33				Colorectal(170;0.248)	Bimatoprost(DB00905)|Latanoprost(DB00654)|Travoprost(DB00287)	GCTGCCCATCCTTGGACATCG	0.373													14	182					2.32078e-09	2.80257e-09	1	1	0	A	78958942	C	A	78958942	3	1	81	1	0	0	0	0	1	0	0	0	12799	681	24	4	516	4	PTGFR	1	78958942	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	369	78958942	170291679	625	4241											
PTGFR	5737	broad.mit.edu	37	1	79002278	79002278	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:79002278G>T	ENST00000370757.3	+	3	1223	c.986G>T	c.(985-987)aGc>aTc	p.S329I	PTGFR_ENST00000370756.3_3'UTR|PTGFR_ENST00000370758.1_Missense_Mutation_p.S329I	NM_000959.3	NP_000950.1	P43088	PF2R_HUMAN	prostaglandin F receptor (FP)	329					parturition	extracellular region|integral to plasma membrane	prostaglandin F receptor activity			breast(6)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	33				Colorectal(170;0.248)	Bimatoprost(DB00905)|Latanoprost(DB00654)|Travoprost(DB00287)	CATGTCATCAGCTTACATATT	0.388													7	149					2.17888e-05	2.43576e-05	1	1	0	T	79002278	G	T	79002278	3	4	81	1	0	0	0	0	1	0	0	0	12799	971	34	4	1067	4	PTGFR	1	79002278	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	43336	79002278	170248343	626	4242											
PTGFR	5737	broad.mit.edu	37	1	79002308	79002308	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:79002308A>C	ENST00000370757.3	+	3	1253	c.1016A>C	c.(1015-1017)aAa>aCa	p.K339T	PTGFR_ENST00000370756.3_3'UTR|PTGFR_ENST00000370758.1_Missense_Mutation_p.K339T	NM_000959.3	NP_000950.1	P43088	PF2R_HUMAN	prostaglandin F receptor (FP)	339					parturition	extracellular region|integral to plasma membrane	prostaglandin F receptor activity			breast(6)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	33				Colorectal(170;0.248)	Bimatoprost(DB00905)|Latanoprost(DB00654)|Travoprost(DB00287)	AGTTCCATTAAAAATTCCTTA	0.418													9	93					0	0	1	0	0	C	79002308	A	C	79002308	3	2	81	1	0	0	0	0	1	0	0	0	12799	14	1	5	1097	5	PTGFR	1	79002308	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	30	79002308	170248313	627	4243											
IFI44	10561	broad.mit.edu	37	1	79116271	79116272	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:79116271_79116272insA	ENST00000370747.4	+	2	476_477	c.391_392insA	c.(391-393)gaafs	p.E131fs	IFI44_ENST00000545124.1_Intron|IFI44_ENST00000495254.1_Intron	NM_006417.4	NP_006408.3	Q8TCB0	IFI44_HUMAN	interferon-induced protein 44	131					response to virus	cytoplasm				central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	21						AAAGACAATGGAAAATCTTGGA	0.327													41	113	---	---	---	---						A	79116272	-	A	79116271	7	5	81	1	0	1	1	0	0	0	0	0	7561	1175	41	0	393	0	IFI44	1	79116271	Frame_Shift_Ins	INS	-	TCGA-DU-6392-01A-11D-1705-08	113963	79116271	170134350	628	4244											
IFI44	10561	broad.mit.edu	37	1	79121166	79121166	+	Translation_Start_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:79121166C>A	ENST00000545124.1	+	0	427				IFI44_ENST00000495254.1_3'UTR|IFI44_ENST00000370747.4_Silent_p.I270I			Q8TCB0	IFI44_HUMAN	interferon-induced protein 44						response to virus	cytoplasm				central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	21						TATTCTATATCTTGAACGGTA	0.388													9	90					3.86212e-05	4.27865e-05	1	1	0	A	79121166	C	A	79121166	1	1	81	1	0	0	0	0	0	0	0	0	7561	903	32	4		4	IFI44	1	79121166	Translation_Start_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	4895	79121166	170129455	629	4245											
LPHN2	23266	broad.mit.edu	37	1	82417649	82417649	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:82417649C>T	ENST00000370728.1	+	11	2250	c.1605C>T	c.(1603-1605)agC>agT	p.S535S	LPHN2_ENST00000370725.1_Silent_p.S535S|LPHN2_ENST00000370717.2_Silent_p.S535S|LPHN2_ENST00000370723.1_Silent_p.S535S|LPHN2_ENST00000394879.1_Silent_p.S535S|LPHN2_ENST00000359929.3_Silent_p.S535S|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370715.1_Silent_p.S535S|LPHN2_ENST00000271029.4_Silent_p.S535S|LPHN2_ENST00000319517.6_Silent_p.S535S|LPHN2_ENST00000370727.1_Silent_p.S535S|LPHN2_ENST00000370730.1_Silent_p.S535S|LPHN2_ENST00000370713.1_Silent_p.S535S|LPHN2_ENST00000335786.5_Silent_p.S535S|LPHN2_ENST00000370721.1_Silent_p.S473S			O95490	LPHN2_HUMAN	latrophilin 2	535					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		AGATCAGAAGCGGAGAAAATG	0.363													5	80					0	0	1	0	0	T	82417649	C	T	82417649	2	4	81	1	0	0	0	0	0	0	0	1	8961	767	27	1		1	LPHN2	1	82417649	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3296483	82417649	166832972	630	4246											
LPHN2	23266	broad.mit.edu	37	1	82421735	82421735	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:82421735G>A	ENST00000370728.1	+	13	2641	c.1996G>A	c.(1996-1998)Gaa>Aaa	p.E666K	LPHN2_ENST00000370725.1_Missense_Mutation_p.E666K|LPHN2_ENST00000370717.2_Missense_Mutation_p.E666K|LPHN2_ENST00000370723.1_Missense_Mutation_p.E653K|LPHN2_ENST00000394879.1_Missense_Mutation_p.E653K|LPHN2_ENST00000359929.3_Missense_Mutation_p.E653K|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370715.1_Missense_Mutation_p.E653K|LPHN2_ENST00000271029.4_Missense_Mutation_p.E666K|LPHN2_ENST00000319517.6_Missense_Mutation_p.E653K|LPHN2_ENST00000370727.1_Missense_Mutation_p.E666K|LPHN2_ENST00000370730.1_Missense_Mutation_p.E666K|LPHN2_ENST00000370713.1_Missense_Mutation_p.E653K|LPHN2_ENST00000335786.5_Missense_Mutation_p.E666K|LPHN2_ENST00000370721.1_Missense_Mutation_p.E591K			O95490	LPHN2_HUMAN	latrophilin 2	666					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		AATGCCCACAGAAAATATTGG	0.358													22	54					0	0	1	0	0	A	82421735	G	A	82421735	3	1	81	1	0	0	0	0	1	0	0	0	8961	943	33	2	1987	2	LPHN2	1	82421735	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	4086	82421735	166828886	631	4247											
LPHN2	23266	broad.mit.edu	37	1	82432123	82432123	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:82432123C>A	ENST00000370728.1	+	15	2812	c.2167C>A	c.(2167-2169)Ctg>Atg	p.L723M	LPHN2_ENST00000370725.1_Missense_Mutation_p.L723M|LPHN2_ENST00000370717.2_Missense_Mutation_p.L723M|LPHN2_ENST00000370723.1_Missense_Mutation_p.L710M|LPHN2_ENST00000394879.1_Missense_Mutation_p.L710M|LPHN2_ENST00000359929.3_Missense_Mutation_p.L710M|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370715.1_Missense_Mutation_p.L710M|LPHN2_ENST00000271029.4_Missense_Mutation_p.L723M|LPHN2_ENST00000319517.6_Missense_Mutation_p.L710M|LPHN2_ENST00000370727.1_Missense_Mutation_p.L723M|LPHN2_ENST00000370730.1_Missense_Mutation_p.L723M|LPHN2_ENST00000370713.1_Missense_Mutation_p.L710M|LPHN2_ENST00000335786.5_Missense_Mutation_p.L723M|LPHN2_ENST00000370721.1_Missense_Mutation_p.L648M			O95490	LPHN2_HUMAN	latrophilin 2	723					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		TTACCGGAGCCTGGGACAGTT	0.378													7	110					0.00198382	0.00209725	1	1	0	A	82432123	C	A	82432123	3	1	81	1	0	0	0	0	1	0	0	0	8961	680	24	4	2166	4	LPHN2	1	82432123	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	10388	82432123	166818498	632	4248											
LPHN2	23266	broad.mit.edu	37	1	82436143	82436143	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:82436143C>T	ENST00000370728.1	+	18	3512	c.2867C>T	c.(2866-2868)gCt>gTt	p.A956V	LPHN2_ENST00000370725.1_Missense_Mutation_p.A956V|LPHN2_ENST00000370717.2_Missense_Mutation_p.A956V|LPHN2_ENST00000370723.1_Missense_Mutation_p.A943V|LPHN2_ENST00000394879.1_Missense_Mutation_p.A943V|LPHN2_ENST00000359929.3_Missense_Mutation_p.A943V|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370715.1_Missense_Mutation_p.A943V|LPHN2_ENST00000271029.4_Missense_Mutation_p.A956V|LPHN2_ENST00000319517.6_Missense_Mutation_p.A943V|LPHN2_ENST00000370727.1_Missense_Mutation_p.A956V|LPHN2_ENST00000370730.1_Missense_Mutation_p.A956V|LPHN2_ENST00000370713.1_Missense_Mutation_p.A943V|LPHN2_ENST00000335786.5_Missense_Mutation_p.A956V|LPHN2_ENST00000370721.1_Missense_Mutation_p.A881V			O95490	LPHN2_HUMAN	latrophilin 2	956					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		TACTATGTTGCTGGTTACTTG	0.398													68	40					0	0	1	0	0	T	82436143	C	T	82436143	3	4	81	1	0	0	0	0	1	0	0	0	8961	797	28	2	2878	2	LPHN2	1	82436143	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	4020	82436143	166814478	633	4249											
LPHN2	23266	broad.mit.edu	37	1	82451005	82451005	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:82451005A>G	ENST00000370728.1	+	23	4107	c.3462A>G	c.(3460-3462)tcA>tcG	p.S1154S	LPHN2_ENST00000370725.1_Silent_p.S1169S|LPHN2_ENST00000370717.2_Silent_p.S1169S|LPHN2_ENST00000370723.1_Silent_p.S1156S|LPHN2_ENST00000394879.1_Silent_p.S1156S|LPHN2_ENST00000359929.3_Silent_p.S1141S|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370715.1_Silent_p.S1141S|LPHN2_ENST00000271029.4_Silent_p.S1169S|LPHN2_ENST00000319517.6_Silent_p.S1141S|LPHN2_ENST00000370727.1_Silent_p.S1169S|LPHN2_ENST00000370730.1_Silent_p.S1154S|LPHN2_ENST00000370713.1_Intron|LPHN2_ENST00000335786.5_Silent_p.S1154S|LPHN2_ENST00000370721.1_Silent_p.S1079S			O95490	LPHN2_HUMAN	latrophilin 2	1154					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		CTTTTATCTCAGGTGACATCA	0.294													7	92					0	0	1	0	0	G	82451005	A	G	82451005	2	3	81	1	0	0	0	0	0	0	0	1	8961	175	7	3		3	LPHN2	1	82451005	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	14862	82451005	166799616	634	4250											
LPHN2	23266	broad.mit.edu	37	1	82452652	82452652	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:82452652C>T	ENST00000370728.1	+	24	4209	c.3564C>T	c.(3562-3564)aaC>aaT	p.N1188N	LPHN2_ENST00000370725.1_Silent_p.N1203N|LPHN2_ENST00000370717.2_Silent_p.N1203N|LPHN2_ENST00000370723.1_Silent_p.N1190N|LPHN2_ENST00000394879.1_Silent_p.N1190N|LPHN2_ENST00000359929.3_Intron|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370715.1_Intron|LPHN2_ENST00000271029.4_Intron|LPHN2_ENST00000319517.6_Intron|LPHN2_ENST00000370727.1_Intron|LPHN2_ENST00000370730.1_Intron|LPHN2_ENST00000370713.1_Intron|LPHN2_ENST00000335786.5_Intron|LPHN2_ENST00000370721.1_Silent_p.N1113N			O95490	LPHN2_HUMAN	latrophilin 2	1188					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		ACCCCTATAACACATTGCTCG	0.388													23	62					0	0	1	0	0	T	82452652	C	T	82452652	2	4	81	1	0	0	0	0	0	0	0	1	8961	493	17	2		2	LPHN2	1	82452652	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1647	82452652	166797969	635	4251											
TTLL7	79739	broad.mit.edu	37	1	84356049	84356049	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:84356049A>G	ENST00000260505.8	-	19	2701	c.2324T>C	c.(2323-2325)cTc>cCc	p.L775P	TTLL7_ENST00000477524.1_5'UTR	NM_024686.4	NP_078962.4	Q6ZT98	TTLL7_HUMAN	tubulin tyrosine ligase-like family, member 7	775					cell differentiation|nervous system development|protein modification process	cilium|dendrite|microtubule basal body|perikaryon	tubulin-tyrosine ligase activity			kidney(1)|large_intestine(8)|lung(15)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29				all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16)		ACGACTCCAGAGTAAGCGATT	0.373													5	74					0	0	1	0	0	G	84356049	A	G	84356049	3	3	81	1	0	0	0	0	1	0	0	0	16794	304	11	3	351	3	TTLL7	1	84356049	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	1903397	84356049	164894572	636	4252											
TTLL7	79739	broad.mit.edu	37	1	84417649	84417649	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:84417649T>C	ENST00000260505.8	-	3	413	c.36A>G	c.(34-36)ggA>ggG	p.G12G	TTLL7_ENST00000477524.1_5'UTR	NM_024686.4	NP_078962.4	Q6ZT98	TTLL7_HUMAN	tubulin tyrosine ligase-like family, member 7	12					cell differentiation|nervous system development|protein modification process	cilium|dendrite|microtubule basal body|perikaryon	tubulin-tyrosine ligase activity			kidney(1)|large_intestine(8)|lung(15)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29				all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16)		GGGGAGAGGGTCCCTGAATAA	0.363													5	70					0	0	1	0	0	C	84417649	T	C	84417649	2	2	81	1	0	0	0	0	0	0	0	1	16794	1654	58	3		3	TTLL7	1	84417649	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	61600	84417649	164832972	637	4253											
PRKACB	5567	broad.mit.edu	37	1	84668410	84668410	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:84668410C>A	ENST00000370689.2	+	8	951	c.687C>A	c.(685-687)atC>atA	p.I229I	PRKACB_ENST00000394839.2_Silent_p.I199I|PRKACB_ENST00000370688.3_Silent_p.I229I|PRKACB_ENST00000370682.3_Silent_p.I233I|PRKACB_ENST00000370685.3_Silent_p.I276I|PRKACB_ENST00000394838.2_Silent_p.I236I|PRKACB_ENST00000370680.1_Silent_p.I235I	NM_001242862.1|NM_002731.2	NP_001229791.1|NP_002722.1	P22694	KAPCB_HUMAN	protein kinase, cAMP-dependent, catalytic, beta	229	Protein kinase.				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein signaling, coupled to cAMP nucleotide second messenger|gluconeogenesis|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|regulation of insulin secretion|synaptic transmission|transmembrane transport|triglyceride catabolic process|water transport	cAMP-dependent protein kinase complex|centrosome|cytosol|nucleoplasm|plasma membrane	ATP binding|cAMP-dependent protein kinase activity|magnesium ion binding|protein binding			breast(1)|endometrium(2)|kidney(1)|lung(11)|ovary(1)	16				all cancers(265;0.00536)|Epithelial(280;0.0161)|OV - Ovarian serous cystadenocarcinoma(397;0.141)		GAGTGCTAATCTATGAAATGG	0.368													6	188					0.00198382	0.00209725	1	1	0	A	84668410	C	A	84668410	2	1	81	1	0	0	0	0	0	0	0	1	12550	903	32	4		4	PRKACB	1	84668410	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	250761	84668410	164582211	638	4254											
SSX2IP	117178	broad.mit.edu	37	1	85135531	85135531	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:85135531C>A	ENST00000437941.2	-	3	530	c.178G>T	c.(178-180)Ggt>Tgt	p.G60C	SSX2IP_ENST00000605755.1_Missense_Mutation_p.G60C|SSX2IP_ENST00000370612.4_Missense_Mutation_p.G87C|SSX2IP_ENST00000342203.3_Missense_Mutation_p.G87C|SSX2IP_ENST00000603677.1_Intron	NM_001166295.1|NM_001166417.1	NP_001159767.1|NP_001159889.1	Q9Y2D8	ADIP_HUMAN	synovial sarcoma, X breakpoint 2 interacting protein	87					cell adhesion	nucleus|protein complex				endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|urinary_tract(1)	19				all cancers(265;0.0053)|Epithelial(280;0.0214)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		GTCTCTTTACCTTTGGATTCT	0.363													5	68					1.23904e-05	1.39156e-05	1	1	0	A	85135531	C	A	85135531	3	1	81	1	0	0	0	0	1	0	0	0	15260	681	24	4	1629	4	SSX2IP	1	85135531	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	467121	85135531	164115090	639	4255											
LPAR3	23566	broad.mit.edu	37	1	85331180	85331180	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:85331180C>T	ENST00000440886.1	-	1	662	c.624G>A	c.(622-624)cgG>cgA	p.R208R	LPAR3_ENST00000370611.3_Silent_p.R208R|LPAR3_ENST00000491034.1_5'UTR			Q9UBY5	LPAR3_HUMAN	lysophosphatidic acid receptor 3	208					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane|intracellular membrane-bounded organelle				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|urinary_tract(1)	24						ACACGTAGATCCGCAGGTACA	0.532													18	49					0	0	1	0	0	T	85331180	C	T	85331180	2	4	81	1	0	0	0	0	0	0	0	1	8951	842	30	2		2	LPAR3	1	85331180	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	195649	85331180	163919441	640	4256											
MCOLN2	255231	broad.mit.edu	37	1	85405352	85405352	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:85405352G>A	ENST00000370608.3	-	9	1061	c.994C>T	c.(994-996)Cgg>Tgg	p.R332W	MCOLN2_ENST00000284027.5_Missense_Mutation_p.R304W|MCOLN2_ENST00000531325.1_5'UTR	NM_153259.2	NP_694991.2	Q8IZK6	MCLN2_HUMAN	mucolipin 2	332						integral to membrane	ion channel activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	18				all cancers(265;0.0111)|Epithelial(280;0.0263)|OV - Ovarian serous cystadenocarcinoma(397;0.217)		CACACAGGCCGCTTGTACTTC	0.438													28	71					0	0	1	0	0	A	85405352	G	A	85405352	3	1	81	1	0	0	0	0	1	0	0	0	9446	1086	38	1	730	1	MCOLN2	1	85405352	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	74172	85405352	163845269	641	4257											
WDR63	126820	broad.mit.edu	37	1	85547045	85547045	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:85547045C>A	ENST00000294664.6	+	4	412	c.232C>A	c.(232-234)Ctg>Atg	p.L78M	WDR63_ENST00000326813.8_Missense_Mutation_p.L78M|WDR63_ENST00000370596.1_Missense_Mutation_p.L78M	NM_145172.3	NP_660155.2	Q8IWG1	WDR63_HUMAN	WD repeat domain 63	78										NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)	36				all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)		TTTTGAGGACCTGCGCAACAG	0.383													49	105					2.84144e-21	3.71853e-21	1	1	0	A	85547045	C	A	85547045	3	1	81	1	0	0	0	0	1	0	0	0	17374	680	24	4	242	4	WDR63	1	85547045	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	141693	85547045	163703576	642	4258											
WDR63	126820	broad.mit.edu	37	1	85559185	85559185	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:85559185T>G	ENST00000294664.6	+	9	1082	c.902T>G	c.(901-903)aTt>aGt	p.I301S	WDR63_ENST00000326813.8_Missense_Mutation_p.I262S|WDR63_ENST00000370596.1_Missense_Mutation_p.I262S	NM_145172.3	NP_660155.2	Q8IWG1	WDR63_HUMAN	WD repeat domain 63	301										NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)	36				all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)		AACACATTTATTGATGACTGG	0.373													9	140					0	0	1	0	0	G	85559185	T	G	85559185	3	3	81	1	0	0	0	0	1	0	0	0	17374	1493	52	4	932	4	WDR63	1	85559185	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	12140	85559185	163691436	643	4259											
WDR63	126820	broad.mit.edu	37	1	85589885	85589885	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:85589885T>C	ENST00000294664.6	+	19	2243	c.2063T>C	c.(2062-2064)aTt>aCt	p.I688T	WDR63_ENST00000326813.8_Missense_Mutation_p.I649T|WDR63_ENST00000370596.1_Missense_Mutation_p.I649T	NM_145172.3	NP_660155.2	Q8IWG1	WDR63_HUMAN	WD repeat domain 63	688										NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)	36				all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)		AACGACATTATTCTCACGGTT	0.443													60	134					0	0	1	0	0	C	85589885	T	C	85589885	3	2	81	1	0	0	0	0	1	0	0	0	17374	1493	52	3	2133	3	WDR63	1	85589885	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	30700	85589885	163660736	644	4260											
WDR63	126820	broad.mit.edu	37	1	85592238	85592238	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:85592238C>A	ENST00000294664.6	+	20	2337	c.2157C>A	c.(2155-2157)acC>acA	p.T719T	WDR63_ENST00000326813.8_Silent_p.T680T|WDR63_ENST00000370596.1_Silent_p.T680T	NM_145172.3	NP_660155.2	Q8IWG1	WDR63_HUMAN	WD repeat domain 63	719										NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)	36				all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)		AAAGGTACACCTCAGGCCACT	0.443													4	58					0.00909568	0.00944708	1	1	0	A	85592238	C	A	85592238	2	1	81	1	0	0	0	0	0	0	0	1	17374	668	24	4		4	WDR63	1	85592238	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2353	85592238	163658383	645	4261											
SYDE2	84144	broad.mit.edu	37	1	85648578	85648578	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:85648578C>T	ENST00000341460.5	-	3	1796	c.1747G>A	c.(1747-1749)Gct>Act	p.A583T		NM_032184.1	NP_115560.1	Q5VT97	SYDE2_HUMAN	synapse defective 1, Rho GTPase, homolog 2 (C. elegans)	583					activation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	Rho GTPase activator activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	20				all cancers(265;0.0126)|Epithelial(280;0.0336)		CTCTTAGCAGCGGTGGTTGTG	0.403													9	160					0	0	1	0	0	T	85648578	C	T	85648578	3	4	81	1	0	0	0	0	1	0	0	0	15493	768	27	1	1857	1	SYDE2	1	85648578	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	56340	85648578	163602043	646	4262											
C1orf52	148423	broad.mit.edu	37	1	85724362	85724362	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:85724362G>A	ENST00000471115.1	-	2	328	c.320C>T	c.(319-321)cCt>cTt	p.P107L	C1orf52_ENST00000344356.5_Missense_Mutation_p.P107L|C1orf52_ENST00000294661.4_5'UTR	NM_198077.3	NP_932343.1	Q8N6N3	CA052_HUMAN	chromosome 1 open reading frame 52	107										endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)	10				all cancers(265;0.0105)|Epithelial(280;0.0293)		GGTCTCAGGAGGTGGTACATA	0.453													3	50					0	0	1	0	0	A	85724362	G	A	85724362	3	1	81	1	0	0	0	0	1	0	0	0	2058	1000	35	2	236	2	C1orf52	1	85724362	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	75784	85724362	163526259	647	4263											
DDAH1	23576	broad.mit.edu	37	1	85790441	85790441	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:85790441C>A	ENST00000284031.8	-	5	817	c.723G>T	c.(721-723)gaG>gaT	p.E241D	RP11-131L23.1_ENST00000427819.1_RNA|DDAH1_ENST00000535924.2_Missense_Mutation_p.E138D|DDAH1_ENST00000483110.1_5'UTR|DDAH1_ENST00000542148.1_Missense_Mutation_p.E141D|DDAH1_ENST00000426972.3_Missense_Mutation_p.E148D|RP11-131L23.1_ENST00000426125.1_RNA|DDAH1_ENST00000539042.1_Missense_Mutation_p.E241D	NM_012137.3	NP_036269.1	O94760	DDAH1_HUMAN	dimethylarginine dimethylaminohydrolase 1	241					arginine catabolic process|citrulline metabolic process|nitric oxide mediated signal transduction		dimethylargininase activity|metal ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(1)|skin(1)	5				all cancers(265;0.0318)|Epithelial(280;0.0657)	L-Citrulline(DB00155)	TTTCTGGATACTCTTCCGGGG	0.473													6	105					0.00198382	0.00209725	1	1	0	A	85790441	C	A	85790441	3	1	81	1	0	0	0	0	1	0	0	0	4344	564	20	4	142	4	DDAH1	1	85790441	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	66079	85790441	163460180	648	4264											
DDAH1	23576	broad.mit.edu	37	1	85816136	85816136	+	Missense_Mutation	SNP	C	C	T	rs147415500	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:85816136C>T	ENST00000284031.8	-	4	653	c.559G>A	c.(559-561)Gca>Aca	p.A187T	RP11-131L23.1_ENST00000427819.1_RNA|DDAH1_ENST00000535924.2_Missense_Mutation_p.A84T|DDAH1_ENST00000483110.1_5'UTR|DDAH1_ENST00000542148.1_Missense_Mutation_p.A87T|DDAH1_ENST00000426972.3_Missense_Mutation_p.A94T|RP11-131L23.1_ENST00000426125.1_RNA|DDAH1_ENST00000539042.1_Missense_Mutation_p.A187T	NM_012137.3	NP_036269.1	O94760	DDAH1_HUMAN	dimethylarginine dimethylaminohydrolase 1	187					arginine catabolic process|citrulline metabolic process|nitric oxide mediated signal transduction		dimethylargininase activity|metal ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(1)|skin(1)	5				all cancers(265;0.0318)|Epithelial(280;0.0657)	L-Citrulline(DB00155)	GACCCAATTGCGATCAGGTTA	0.483													53	156					0	0	1	0	0	T	85816136	C	T	85816136	3	4	81	1	0	0	0	0	1	0	0	0	4344	768	27	1	310	1	DDAH1	1	85816136	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	25695	85816136	163434485	649	4265											
ZNHIT6	54680	broad.mit.edu	37	1	86172138	86172138	+	Nonsense_Mutation	SNP	G	G	A	rs140637481		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:86172138G>A	ENST00000431532.2	-	3	740	c.592C>T	c.(592-594)Cga>Tga	p.R198*	ZNHIT6_ENST00000370574.3_Nonsense_Mutation_p.R237*	NM_001170670.1|NM_017953.3	NP_001164141.1|NP_060423.3	Q9NWK9	BCD1_HUMAN	zinc finger, HIT-type containing 6	237	Glu-rich.				box C/D snoRNP assembly|ribosome biogenesis	pre-snoRNP complex	identical protein binding|metal ion binding			autonomic_ganglia(1)|breast(2)|cervix(2)|large_intestine(10)|lung(1)|urinary_tract(1)	17						CAGGAATATCGCATACAACGT	0.348													39	113					0	0	1	0	0	A	86172138	G	A	86172138	4	1	81	1	0	0	0	0	0	1	0	0	18251	1095	38	1	739	1	ZNHIT6	1	86172138	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	356002	86172138	163078483	650	4266											
ZNHIT6	54680	broad.mit.edu	37	1	86173468	86173468	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:86173468A>G	ENST00000431532.2	-	2	531	c.383T>C	c.(382-384)tTt>tCt	p.F128S	ZNHIT6_ENST00000370574.3_Missense_Mutation_p.F167S	NM_001170670.1|NM_017953.3	NP_001164141.1|NP_060423.3	Q9NWK9	BCD1_HUMAN	zinc finger, HIT-type containing 6	167	Glu-rich.				box C/D snoRNP assembly|ribosome biogenesis	pre-snoRNP complex	identical protein binding|metal ion binding			autonomic_ganglia(1)|breast(2)|cervix(2)|large_intestine(10)|lung(1)|urinary_tract(1)	17						TTGACCAACAAACTTCTCCTC	0.398													16	316					0	0	1	0	0	G	86173468	A	G	86173468	3	3	81	1	0	0	0	0	1	0	0	0	18251	14	1	3	952	3	ZNHIT6	1	86173468	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	1330	86173468	163077153	651	4267											
ZNHIT6	54680	broad.mit.edu	37	1	86173606	86173606	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:86173606G>A	ENST00000431532.2	-	2	393	c.245C>T	c.(244-246)aCg>aTg	p.T82M	ZNHIT6_ENST00000370574.3_Missense_Mutation_p.T121M	NM_001170670.1|NM_017953.3	NP_001164141.1|NP_060423.3	Q9NWK9	BCD1_HUMAN	zinc finger, HIT-type containing 6	121	Glu-rich.				box C/D snoRNP assembly|ribosome biogenesis	pre-snoRNP complex	identical protein binding|metal ion binding			autonomic_ganglia(1)|breast(2)|cervix(2)|large_intestine(10)|lung(1)|urinary_tract(1)	17						ACTACTATCCGTCTCCTGCTT	0.507													52	27					0	0	1	0	0	A	86173606	G	A	86173606	3	1	81	1	0	0	0	0	1	0	0	0	18251	1145	40	1	1090	1	ZNHIT6	1	86173606	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	138	86173606	163077015	652	4268											
COL24A1	255631	broad.mit.edu	37	1	86200457	86200457	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:86200457G>T	ENST00000370571.2	-	59	5339	c.4973C>A	c.(4972-4974)cCt>cAt	p.P1658H	COL24A1_ENST00000436319.1_Missense_Mutation_p.P1637H	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	1658	Fibrillar collagen NC1.				cell adhesion	collagen	extracellular matrix structural constituent			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		AAGCACTTTAGGTTCAAGTAG	0.363													16	215					1.67942e-08	2.00033e-08	1	1	0	T	86200457	G	T	86200457	3	4	81	1	0	0	0	0	1	0	0	0	3706	1000	35	4	179	4	COL24A1	1	86200457	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	26851	86200457	163050164	653	4269											
COL24A1	255631	broad.mit.edu	37	1	86210352	86210352	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:86210352C>A	ENST00000370571.2	-	57	5035	c.4669G>T	c.(4669-4671)Gat>Tat	p.D1557Y	COL24A1_ENST00000436319.1_Missense_Mutation_p.D1536Y	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	1557	Fibrillar collagen NC1.				cell adhesion	collagen	extracellular matrix structural constituent			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		AACTTACCATCTGATACTTTT	0.363													11	124					0.0135373	0.014045	1	1	0	A	86210352	C	A	86210352	3	1	81	1	0	0	0	0	1	0	0	0	3706	913	32	4	491	4	COL24A1	1	86210352	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	9895	86210352	163040269	654	4270											
COL24A1	255631	broad.mit.edu	37	1	86304298	86304298	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:86304298C>T	ENST00000370571.2	-	43	4017	c.3651G>A	c.(3649-3651)gaG>gaA	p.E1217E	COL24A1_ENST00000436319.1_Silent_p.E1217E	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	1217	Collagen-like 13.				cell adhesion	collagen	extracellular matrix structural constituent			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		GCTCTCCTCTCTCTCCTTGGT	0.418													7	155					0	0	1	0	0	T	86304298	C	T	86304298	2	4	81	1	0	0	0	0	0	0	0	1	3706	912	32	2		2	COL24A1	1	86304298	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	93946	86304298	162946323	655	4271											
COL24A1	255631	broad.mit.edu	37	1	86313406	86313406	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:86313406G>T	ENST00000370571.2	-	39	3770	c.3404C>A	c.(3403-3405)cCt>cAt	p.P1135H	COL24A1_ENST00000436319.1_Missense_Mutation_p.P1135H	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	1135	Collagen-like 11.				cell adhesion	collagen	extracellular matrix structural constituent			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		TTTTCCAGGAGGACCTCTGCT	0.428													8	158					0.000442599	0.000477972	1	1	0	T	86313406	G	T	86313406	3	4	81	1	0	0	0	0	1	0	0	0	3706	1000	35	4	1828	4	COL24A1	1	86313406	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	9108	86313406	162937215	656	4272											
COL24A1	255631	broad.mit.edu	37	1	86355288	86355288	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:86355288C>A	ENST00000370571.2	-	32	3297	c.2931G>T	c.(2929-2931)caG>caT	p.Q977H	COL24A1_ENST00000436319.1_Missense_Mutation_p.Q977H	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	977	Collagen-like 8.				cell adhesion	collagen	extracellular matrix structural constituent			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		CAGGCAATCCCTGTAAACCCT	0.383													12	125					3.27435e-08	3.88014e-08	1	1	0	A	86355288	C	A	86355288	3	1	81	1	0	0	0	0	1	0	0	0	3706	680	24	4	2329	4	COL24A1	1	86355288	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	41882	86355288	162895333	657	4273											
CLCA2	9635	broad.mit.edu	37	1	86900358	86900358	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:86900358C>T	ENST00000370565.4	+	6	1064	c.902C>T	c.(901-903)aCa>aTa	p.T301I		NM_006536.5	NP_006527.1	Q9UQC9	CLCA2_HUMAN	chloride channel accessory 2	301					cell adhesion	basal plasma membrane|cell junction|extracellular region|integral to plasma membrane	chloride channel activity			NS(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	42		Lung NSC(277;0.238)		all cancers(265;0.0233)|Epithelial(280;0.0452)		CCTCCTCCCACATTCTCGCTT	0.478													35	128					0	0	1	0	0	T	86900358	C	T	86900358	3	4	81	1	0	0	0	0	1	0	0	0	3481	478	17	2	924	2	CLCA2	1	86900358	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	545070	86900358	162350263	658	4274											
CLCA2	9635	broad.mit.edu	37	1	86905903	86905903	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:86905903C>A	ENST00000370565.4	+	8	1438	c.1276C>A	c.(1276-1278)Ctt>Att	p.L426I		NM_006536.5	NP_006527.1	Q9UQC9	CLCA2_HUMAN	chloride channel accessory 2	426	VWFA.				cell adhesion	basal plasma membrane|cell junction|extracellular region|integral to plasma membrane	chloride channel activity			NS(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	42		Lung NSC(277;0.238)		all cancers(265;0.0233)|Epithelial(280;0.0452)		TGATAAGCTTCTTGGCAATTG	0.443													6	185					3.59834e-05	3.99423e-05	1	1	0	A	86905903	C	A	86905903	3	1	81	1	0	0	0	0	1	0	0	0	3481	913	32	4	1306	4	CLCA2	1	86905903	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	5545	86905903	162344718	659	4275											
CLCA2	9635	broad.mit.edu	37	1	86909576	86909576	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:86909576C>A	ENST00000370565.4	+	10	1757	c.1595C>A	c.(1594-1596)gCc>gAc	p.A532D		NM_006536.5	NP_006527.1	Q9UQC9	CLCA2_HUMAN	chloride channel accessory 2	532					cell adhesion	basal plasma membrane|cell junction|extracellular region|integral to plasma membrane	chloride channel activity			NS(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	42		Lung NSC(277;0.238)		all cancers(265;0.0233)|Epithelial(280;0.0452)		ACGTGGCAGGCCAGTGGTCCT	0.393													52	122					2.52991e-16	3.24751e-16	1	1	0	A	86909576	C	A	86909576	3	1	81	1	0	0	0	0	1	0	0	0	3481	739	26	5	1633	5	CLCA2	1	86909576	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3673	86909576	162341045	660	4276											
CLCA1	1179	broad.mit.edu	37	1	86939129	86939129	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:86939129G>A	ENST00000234701.3	+	3	543	c.192G>A	c.(190-192)ctG>ctA	p.L64L	CLCA1_ENST00000394711.1_Silent_p.L64L			A8K7I4	CLCA1_HUMAN	chloride channel accessory 1	64					calcium ion transport	extracellular space|integral to plasma membrane	chloride channel activity			NS(1)|breast(3)|endometrium(1)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Lung NSC(277;0.239)		all cancers(265;0.0249)|Epithelial(280;0.0476)		CTCTGTATCTGCTTGAAGCTA	0.358													6	115					0	0	1	0	0	A	86939129	G	A	86939129	2	1	81	1	0	0	0	0	0	0	0	1	3480	1306	46	2		2	CLCA1	1	86939129	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	29553	86939129	162311492	661	4277											
CLCA1	1179	broad.mit.edu	37	1	86954716	86954716	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:86954716T>G	ENST00000234701.3	+	9	1571	c.1220T>G	c.(1219-1221)aTt>aGt	p.I407S	CLCA1_ENST00000394711.1_Missense_Mutation_p.I407S			A8K7I4	CLCA1_HUMAN	chloride channel accessory 1	407	VWFA.				calcium ion transport	extracellular space|integral to plasma membrane	chloride channel activity			NS(1)|breast(3)|endometrium(1)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Lung NSC(277;0.239)		all cancers(265;0.0249)|Epithelial(280;0.0476)		GGATCTGAAATTGTGCTGCTG	0.448													6	109					0	0	1	0	0	G	86954716	T	G	86954716	3	3	81	1	0	0	0	0	1	0	0	0	3480	1493	52	4	1250	4	CLCA1	1	86954716	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	15587	86954716	162295905	662	4278											
CLCA1	1179	broad.mit.edu	37	1	86965612	86965612	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:86965612C>T	ENST00000234701.3	+	15	2980	c.2629C>T	c.(2629-2631)Cct>Tct	p.P877S	CLCA1_ENST00000394711.1_Missense_Mutation_p.P877S			A8K7I4	CLCA1_HUMAN	chloride channel accessory 1	877					calcium ion transport	extracellular space|integral to plasma membrane	chloride channel activity			NS(1)|breast(3)|endometrium(1)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Lung NSC(277;0.239)		all cancers(265;0.0249)|Epithelial(280;0.0476)		GACACCTAGTCCTGATGAAAC	0.408													97	93					0	0	1	0	0	T	86965612	C	T	86965612	3	4	81	1	0	0	0	0	1	0	0	0	3480	855	30	2	2683	2	CLCA1	1	86965612	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	10896	86965612	162285009	663	4279											
SH3GLB1	51100	broad.mit.edu	37	1	87188228	87188228	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:87188228G>A	ENST00000370558.4	+	4	673	c.349G>A	c.(349-351)Gcc>Acc	p.A117T	SH3GLB1_ENST00000535010.1_Missense_Mutation_p.A17T|SH3GLB1_ENST00000482504.1_Missense_Mutation_p.A117T	NM_001206651.1|NM_001206653.1|NM_016009.4	NP_001193580.1|NP_001193582.1|NP_057093.1	Q9Y371	SHLB1_HUMAN	SH3-domain GRB2-like endophilin B1	117	BAR.				anti-apoptosis|filopodium assembly|signal transduction	Golgi membrane|mitochondrial outer membrane	cytoskeletal adaptor activity|protein homodimerization activity|SH3 domain binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|stomach(1)	11		Lung NSC(277;0.209)		all cancers(265;0.0136)|Epithelial(280;0.0414)		TGCAGGTAATGCCCTTATTAA	0.308													35	131					0	0	1	0	0	A	87188228	G	A	87188228	3	1	81	1	0	0	0	0	1	0	0	0	14308	1319	46	2	363	2	SH3GLB1	1	87188228	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	222616	87188228	162062393	664	4280											
SH3GLB1	51100	broad.mit.edu	37	1	87207962	87207962	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:87207962C>T	ENST00000370558.4	+	8	1157	c.833C>T	c.(832-834)gCg>gTg	p.A278V	SH3GLB1_ENST00000535010.1_Missense_Mutation_p.A178V|SH3GLB1_ENST00000482504.1_Missense_Mutation_p.A299V	NM_001206651.1|NM_001206653.1|NM_016009.4	NP_001193580.1|NP_001193582.1|NP_057093.1	Q9Y371	SHLB1_HUMAN	SH3-domain GRB2-like endophilin B1	278					anti-apoptosis|filopodium assembly|signal transduction	Golgi membrane|mitochondrial outer membrane	cytoskeletal adaptor activity|protein homodimerization activity|SH3 domain binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|stomach(1)	11		Lung NSC(277;0.209)		all cancers(265;0.0136)|Epithelial(280;0.0414)		TTACCAAATGCGATTGGTTCT	0.428													29	83					0	0	1	0	0	T	87207962	C	T	87207962	3	4	81	1	0	0	0	0	1	0	0	0	14308	768	27	1	863	1	SH3GLB1	1	87207962	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	19734	87207962	162042659	665	4281											
SH3GLB1	51100	broad.mit.edu	37	1	87208030	87208030	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:87208030C>A	ENST00000370558.4	+	8	1225	c.901C>A	c.(901-903)Ctt>Att	p.L301I	SH3GLB1_ENST00000535010.1_Missense_Mutation_p.L201I|SH3GLB1_ENST00000482504.1_Missense_Mutation_p.L322I	NM_001206651.1|NM_001206653.1|NM_016009.4	NP_001193580.1|NP_001193582.1|NP_057093.1	Q9Y371	SHLB1_HUMAN	SH3-domain GRB2-like endophilin B1	301					anti-apoptosis|filopodium assembly|signal transduction	Golgi membrane|mitochondrial outer membrane	cytoskeletal adaptor activity|protein homodimerization activity|SH3 domain binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|stomach(1)	11		Lung NSC(277;0.209)		all cancers(265;0.0136)|Epithelial(280;0.0414)		CCTCAGTGACCTTAAGGAGTG	0.453													26	77					3.17567e-06	3.62317e-06	1	1	0	A	87208030	C	A	87208030	3	1	81	1	0	0	0	0	1	0	0	0	14308	681	24	4	931	4	SH3GLB1	1	87208030	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	68	87208030	162042591	666	4282											
PKN2	5586	broad.mit.edu	37	1	89251812	89251812	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:89251812C>T	ENST00000370521.3	+	8	1556	c.1197C>T	c.(1195-1197)ctC>ctT	p.L399L	PKN2_ENST00000370505.3_Silent_p.L242L|PKN2_ENST00000370513.5_Silent_p.L399L|PKN2_ENST00000544045.1_Silent_p.L73L|PKN2_ENST00000316005.7_Silent_p.L399L	NM_006256.2	NP_006247.1	Q16513	PKN2_HUMAN	protein kinase N2	399	C2.				signal transduction	cytoplasm	ATP binding|histone deacetylase binding|protein kinase C activity			breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(1)	33		Lung NSC(277;0.123)		all cancers(265;0.0136)|Epithelial(280;0.0301)		TTTTGAAGCTCGATAATACTG	0.368													8	44					0	0	1	0	0	T	89251812	C	T	89251812	2	4	81	1	0	0	0	0	0	0	0	1	12028	871	31	1		1	PKN2	1	89251812	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2043782	89251812	159998809	667	4283											
PKN2	5586	broad.mit.edu	37	1	89270077	89270077	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:89270077C>T	ENST00000370521.3	+	9	1644	c.1285C>T	c.(1285-1287)Cgt>Tgt	p.R429C	PKN2_ENST00000370505.3_Missense_Mutation_p.R272C|PKN2_ENST00000370513.5_Intron|PKN2_ENST00000544045.1_Missense_Mutation_p.R103C|PKN2_ENST00000316005.7_Missense_Mutation_p.R429C	NM_006256.2	NP_006247.1	Q16513	PKN2_HUMAN	protein kinase N2	429	C2.				signal transduction	cytoplasm	ATP binding|histone deacetylase binding|protein kinase C activity			breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(1)	33		Lung NSC(277;0.123)		all cancers(265;0.0136)|Epithelial(280;0.0301)		atCCTAGTCACGTGAACTGGA	0.318													12	29					0	0	1	0	0	T	89270077	C	T	89270077	3	4	81	1	0	0	0	0	1	0	0	0	12028	536	19	1	1319	1	PKN2	1	89270077	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	18265	89270077	159980544	668	4284											
PKN2	5586	broad.mit.edu	37	1	89271345	89271345	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:89271345C>T	ENST00000370521.3	+	11	2026	c.1667C>T	c.(1666-1668)cCt>cTt	p.P556L	PKN2_ENST00000370505.3_Missense_Mutation_p.P399L|PKN2_ENST00000370513.5_Missense_Mutation_p.P508L|PKN2_ENST00000544045.1_Missense_Mutation_p.P230L|PKN2_ENST00000316005.7_Missense_Mutation_p.P556L	NM_006256.2	NP_006247.1	Q16513	PKN2_HUMAN	protein kinase N2	556					signal transduction	cytoplasm	ATP binding|histone deacetylase binding|protein kinase C activity			breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(1)	33		Lung NSC(277;0.123)		all cancers(265;0.0136)|Epithelial(280;0.0301)		CAACTAGCACCTCCAGCTAGG	0.438													15	41					0	0	1	0	0	T	89271345	C	T	89271345	3	4	81	1	0	0	0	0	1	0	0	0	12028	681	24	2	1709	2	PKN2	1	89271345	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1268	89271345	159979276	669	4285											
PKN2	5586	broad.mit.edu	37	1	89294209	89294209	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:89294209A>G	ENST00000370521.3	+	19	2824	c.2465A>G	c.(2464-2466)gAa>gGa	p.E822G	PKN2_ENST00000370505.3_Missense_Mutation_p.E665G|PKN2_ENST00000370513.5_Missense_Mutation_p.E774G|PKN2_ENST00000544045.1_Missense_Mutation_p.E496G	NM_006256.2	NP_006247.1	Q16513	PKN2_HUMAN	protein kinase N2	822	Protein kinase.				signal transduction	cytoplasm	ATP binding|histone deacetylase binding|protein kinase C activity			breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(1)	33		Lung NSC(277;0.123)		all cancers(265;0.0136)|Epithelial(280;0.0301)		GGCACTCCTGAATTTCTTGCC	0.378													25	61					0	0	1	0	0	G	89294209	A	G	89294209	3	3	81	1	0	0	0	0	1	0	0	0	12028	246	9	3	2539	3	PKN2	1	89294209	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	22864	89294209	159956412	670	4286											
RBMXL1	494115	broad.mit.edu	37	1	89448746	89448746	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:89448746T>C	ENST00000399794.2	-	3	1479	c.764A>G	c.(763-765)tAt>tGt	p.Y255C	CCBL2_ENST00000370491.3_Intron|RBMXL1_ENST00000321792.5_Missense_Mutation_p.Y255C|CCBL2_ENST00000446900.2_Intron|CCBL2_ENST00000260508.4_Intron|CCBL2_ENST00000370485.2_Intron	NM_001162536.2	NP_001156008.1	Q96E39	RBMXL_HUMAN	RNA binding motif protein, X-linked-like 1	255							nucleotide binding|RNA binding										TCTTGATGGATAGTCATCACG	0.428													8	202					0	0	1	0	0	C	89448746	T	C	89448746	3	2	81	1	0	0	0	0	1	0	0	0	13205	1406	49	3	412	3	RBMXL1	1	89448746	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	154537	89448746	159801875	671	4287	13	2									
RBMXL1	494115	broad.mit.edu	37	1	89448756	89448756	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:89448756G>A	ENST00000399794.2	-	3	1469	c.754C>T	c.(754-756)Cgt>Tgt	p.R252C	CCBL2_ENST00000370491.3_Intron|RBMXL1_ENST00000321792.5_Missense_Mutation_p.R252C|CCBL2_ENST00000446900.2_Intron|CCBL2_ENST00000260508.4_Intron|CCBL2_ENST00000370485.2_Intron	NM_001162536.2	NP_001156008.1	Q96E39	RBMXL_HUMAN	RNA binding motif protein, X-linked-like 1	252							nucleotide binding|RNA binding										TAGTCATCACGTGAACTGGAA	0.433													133	74					0	0	1	0	0	A	89448756	G	A	89448756	3	1	81	1	0	0	0	0	1	0	0	0	13205	1145	40	1	422	1	RBMXL1	1	89448756	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	10	89448756	159801865	672	4288	13	2									
RBMXL1	494115	broad.mit.edu	37	1	89448840	89448840	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:89448840C>A	ENST00000399794.2	-	3	1385	c.670G>T	c.(670-672)Gat>Tat	p.D224Y	CCBL2_ENST00000370491.3_Intron|RBMXL1_ENST00000321792.5_Missense_Mutation_p.D224Y|CCBL2_ENST00000446900.2_Intron|CCBL2_ENST00000260508.4_Intron|CCBL2_ENST00000370485.2_Intron	NM_001162536.2	NP_001156008.1	Q96E39	RBMXL_HUMAN	RNA binding motif protein, X-linked-like 1	224							nucleotide binding|RNA binding										CTTGGGTAATCTCTGCTTGAA	0.453													49	132					2.24722e-20	2.93538e-20	1	1	0	A	89448840	C	A	89448840	3	1	81	1	0	0	0	0	1	0	0	0	13205	913	32	4	506	4	RBMXL1	1	89448840	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	84	89448840	159801781	673	4289											
RBMXL1	494115	broad.mit.edu	37	1	89448867	89448867	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:89448867A>G	ENST00000399794.2	-	3	1358	c.643T>C	c.(643-645)Tct>Cct	p.S215P	CCBL2_ENST00000370491.3_Intron|RBMXL1_ENST00000321792.5_Missense_Mutation_p.S215P|CCBL2_ENST00000446900.2_Intron|CCBL2_ENST00000260508.4_Intron|CCBL2_ENST00000370485.2_Intron	NM_001162536.2	NP_001156008.1	Q96E39	RBMXL_HUMAN	RNA binding motif protein, X-linked-like 1	215							nucleotide binding|RNA binding										TCTTTAGTAGAATACCCATCA	0.448													122	86					0	0	1	0	0	G	89448867	A	G	89448867	3	3	81	1	0	0	0	0	1	0	0	0	13205	246	9	3	533	3	RBMXL1	1	89448867	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	27	89448867	159801754	674	4290											
RBMXL1	494115	broad.mit.edu	37	1	89449270	89449270	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:89449270C>A	ENST00000399794.2	-	3	955	c.240G>T	c.(238-240)aaG>aaT	p.K80N	RBMXL1_ENST00000413769.1_5'UTR|CCBL2_ENST00000370491.3_Intron|RBMXL1_ENST00000321792.5_Missense_Mutation_p.K80N|CCBL2_ENST00000446900.2_Intron|CCBL2_ENST00000260508.4_Intron|CCBL2_ENST00000370485.2_Intron	NM_001162536.2	NP_001156008.1	Q96E39	RBMXL_HUMAN	RNA binding motif protein, X-linked-like 1	80	RRM.						nucleotide binding|RNA binding										CTTGTTCCACCTTGATGGCTT	0.478											OREG0013593	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	44	141					2.35958e-20	3.08171e-20	1	1	0	A	89449270	C	A	89449270	3	1	81	1	0	0	0	0	1	0	0	0	13205	680	24	4	936	4	RBMXL1	1	89449270	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	403	89449270	159801351	675	4291											
GBP7	388646	broad.mit.edu	37	1	89616141	89616141	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:89616141T>C	ENST00000294671.2	-	6	881	c.743A>G	c.(742-744)cAt>cGt	p.H248R		NM_207398.2	NP_997281.2	Q8N8V2	GBP7_HUMAN	guanylate binding protein 7	248						integral to membrane	GTP binding|GTPase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Lung NSC(277;0.0908)		all cancers(265;0.00835)|Epithelial(280;0.0322)		TTCTTCAACATGGAGTAAGAG	0.398													29	79					0	0	1	0	0	C	89616141	T	C	89616141	3	2	81	1	0	0	0	0	1	0	0	0	6319	1464	51	3	1197	3	GBP7	1	89616141	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	166871	89616141	159634480	676	4292											
GBP5	115362	broad.mit.edu	37	1	89729442	89729442	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:89729442G>A	ENST00000343435.5	-	9	1875	c.1339C>T	c.(1339-1341)Cgg>Tgg	p.R447W	RP4-620F22.2_ENST00000437128.1_RNA|GBP5_ENST00000370459.3_Missense_Mutation_p.R447W	NM_001134486.2|NM_052942.3	NP_001127958.1|NP_443174.1	Q96PP8	GBP5_HUMAN	guanylate binding protein 5	447						plasma membrane	GTP binding|GTPase activity			breast(1)|endometrium(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)	24				all cancers(265;0.00784)|Epithelial(280;0.0286)		CGAGGCTCCCGATAGTACTTT	0.438													38	128					0	0	1	0	0	A	89729442	G	A	89729442	3	1	81	1	0	0	0	0	1	0	0	0	6317	1057	37	1	437	1	GBP5	1	89729442	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	113301	89729442	159521179	677	4293											
GBP6	163351	broad.mit.edu	37	1	89848258	89848258	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:89848258G>A	ENST00000370456.4	+	8	1281	c.1188G>A	c.(1186-1188)ctG>ctA	p.L396L	GBP6_ENST00000535065.1_Silent_p.L266L	NM_198460.2	NP_940862.2	Q6ZN66	GBP6_HUMAN	guanylate binding protein family, member 6	396							GTP binding|GTPase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42		Lung NSC(277;0.0908)		all cancers(265;0.0108)|Epithelial(280;0.0398)		ATTTCTTGCTGCAGAATGAAG	0.418													7	159					0	0	1	0	0	A	89848258	G	A	89848258	2	1	81	1	0	0	0	0	0	0	0	1	6318	1306	46	2		2	GBP6	1	89848258	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	118816	89848258	159402363	678	4294											
LRRC8C	84230	broad.mit.edu	37	1	90178373	90178373	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:90178373C>T	ENST00000370454.4	+	3	499	c.244C>T	c.(244-246)Cct>Tct	p.P82S	RP11-302M6.4_ENST00000370453.5_Intron|LRRC8C_ENST00000479252.1_Intron	NM_032270.4	NP_115646	Q8TDW0	LRC8C_HUMAN	leucine rich repeat containing 8 family, member C	82						endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	28		all_lung(203;0.126)		all cancers(265;0.00756)|Epithelial(280;0.0313)		CACTCCACTGCCTCCACCTAA	0.478													26	71					0	0	1	0	0	T	90178373	C	T	90178373	3	4	81	1	0	0	0	0	1	0	0	0	9068	739	26	2	250	2	LRRC8C	1	90178373	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	330115	90178373	159072248	679	4295											
LRRC8C	84230	broad.mit.edu	37	1	90179921	90179921	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:90179921C>A	ENST00000370454.4	+	3	2047	c.1792C>A	c.(1792-1794)Cac>Aac	p.H598N	RP11-302M6.4_ENST00000370453.5_Intron|LRRC8C_ENST00000479252.1_Intron	NM_032270.4	NP_115646	Q8TDW0	LRC8C_HUMAN	leucine rich repeat containing 8 family, member C	598						endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	28		all_lung(203;0.126)		all cancers(265;0.00756)|Epithelial(280;0.0313)		GGAGCTGGTCCACTGTGACCT	0.463													21	63					4.35082e-09	5.22652e-09	1	1	0	A	90179921	C	A	90179921	3	1	81	1	0	0	0	0	1	0	0	0	9068	594	21	5	1798	5	LRRC8C	1	90179921	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1548	90179921	159070700	680	4296											
ZNF326	284695	broad.mit.edu	37	1	90473240	90473240	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:90473240A>C	ENST00000370447.3	+	5	400	c.279A>C	c.(277-279)gaA>gaC	p.E93D	ZNF326_ENST00000455342.2_Intron|ZNF326_ENST00000340281.4_Missense_Mutation_p.E182D			Q5BKZ1	ZN326_HUMAN	zinc finger protein 326		Gly-rich.|Mediates transcriptional activation (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix	DNA binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(7)|ovary(1)	25		all_lung(203;0.0116)|Lung NSC(277;0.0417)		all cancers(265;0.00728)|Epithelial(280;0.0265)		CTTATCCTGAAAGTACGTTTG	0.478													39	38					0	0	1	0	0	C	90473240	A	C	90473240	3	2	81	1	0	0	0	0	1	0	0	0	17903	11	1	5	568	5	ZNF326	1	90473240	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	293319	90473240	158777381	681	4297											
BARHL2	343472	broad.mit.edu	37	1	91182144	91182144	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:91182144G>A	ENST00000370445.4	-	1	650	c.609C>T	c.(607-609)agC>agT	p.S203S		NM_020063.1	NP_064447.1	Q9NY43	BARH2_HUMAN	BarH-like homeobox 2	203						nucleus	sequence-specific DNA binding			cervix(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		all_lung(203;0.0263)|Lung SC(238;0.128)		all cancers(265;0.000897)|Epithelial(280;0.00516)|OV - Ovarian serous cystadenocarcinoma(397;0.211)		ATTTGATGTCGCTCTGGGAAT	0.607													21	83					0	0	1	0	0	A	91182144	G	A	91182144	2	1	81	1	0	0	0	0	0	0	0	1	1312	1078	38	1		1	BARHL2	1	91182144	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	708904	91182144	158068477	682	4298											
ZNF644	84146	broad.mit.edu	37	1	91406643	91406643	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:91406643C>A	ENST00000370440.1	-	3	485	c.268G>T	c.(268-270)Ggc>Tgc	p.G90C	ZNF644_ENST00000347275.5_Intron|ZNF644_ENST00000467231.1_Intron|ZNF644_ENST00000337393.5_Missense_Mutation_p.G90C|ZNF644_ENST00000361321.5_Intron			Q9H582	ZN644_HUMAN	zinc finger protein 644	90					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	47		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		CTAGACTGGCCTCCACTTAAG	0.393													21	112					1.96292e-10	2.40212e-10	1	1	0	A	91406643	C	A	91406643	3	1	81	1	0	0	0	0	1	0	0	0	18117	681	24	4	3731	4	ZNF644	1	91406643	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	224499	91406643	157843978	683	4299											
HFM1	164045	broad.mit.edu	37	1	91731665	91731665	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:91731665C>A	ENST00000370425.3	-	36	3982		c.e36-1		HFM1_ENST00000370424.3_Splice_Site|HFM1_ENST00000462405.1_Intron|HFM1_ENST00000294696.5_Intron	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)								ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		TTTCCAAATCCTATGTGAAGA	0.373													7	77					0.00198382	0.00209725	1	1	0	A	91731665	C	A	91731665	5	1	81	1	0	0	0	0	0	0	1	0	7124	695	24	4	440	4	HFM1	1	91731665	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	325022	91731665	157518956	684	4300											
HFM1	164045	broad.mit.edu	37	1	91841220	91841220	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:91841220C>A	ENST00000370425.3	-	12	1558	c.1460G>T	c.(1459-1461)aGa>aTa	p.R487I	HFM1_ENST00000370424.3_Missense_Mutation_p.R166I|HFM1_ENST00000294696.5_5'UTR	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	487							ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		TTTCACTGGTCTATGGCTCTC	0.378													107	85					7.13616e-70	9.61892e-70	1	1	0	A	91841220	C	A	91841220	3	1	81	1	0	0	0	0	1	0	0	0	7124	913	32	4	2959	4	HFM1	1	91841220	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	109555	91841220	157409401	685	4301											
BRDT	676	broad.mit.edu	37	1	92442855	92442855	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:92442855G>A	ENST00000370389.2	+	6	1579	c.655G>A	c.(655-657)Gca>Aca	p.A219T	BRDT_ENST00000362005.3_Missense_Mutation_p.A292T|BRDT_ENST00000484781.1_3'UTR|BRDT_ENST00000399546.2_Missense_Mutation_p.A292T|BRDT_ENST00000394530.3_Missense_Mutation_p.A246T|BRDT_ENST00000402388.1_Missense_Mutation_p.A292T	NM_001242810.1	NP_001229739	Q58F21	BRDT_HUMAN	bromodomain, testis-specific	292					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein serine/threonine kinase activity|transcription coactivator activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)		TTTTTCATATGCATGGCCCTT	0.343													59	92					0	0	1	0	0	A	92442855	G	A	92442855	3	1	81	1	0	0	0	0	1	0	0	0	1510	1319	46	2	892	2	BRDT	1	92442855	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	601635	92442855	156807766	686	4302											
BRDT	676	broad.mit.edu	37	1	92446488	92446488	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:92446488T>C	ENST00000370389.2	+	10	2208	c.1284T>C	c.(1282-1284)tcT>tcC	p.S428S	BRDT_ENST00000362005.3_Silent_p.S501S|BRDT_ENST00000399546.2_Silent_p.S501S|BRDT_ENST00000394530.3_Silent_p.S455S|BRDT_ENST00000402388.1_Silent_p.S501S	NM_001242810.1	NP_001229739	Q58F21	BRDT_HUMAN	bromodomain, testis-specific	501					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein serine/threonine kinase activity|transcription coactivator activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)		GTCTAAAATCTGAAGATGAAG	0.333													12	61					0	0	1	0	0	C	92446488	T	C	92446488	2	2	81	1	0	0	0	0	0	0	0	1	1510	1567	55	3		3	BRDT	1	92446488	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	3633	92446488	156804133	687	4303											
BRDT	676	broad.mit.edu	37	1	92459650	92459650	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:92459650G>A	ENST00000370389.2	+	15	2831	c.1907G>A	c.(1906-1908)tGt>tAt	p.C636Y	BRDT_ENST00000362005.3_Missense_Mutation_p.C709Y|BRDT_ENST00000399546.2_Missense_Mutation_p.C709Y|BRDT_ENST00000394530.3_Missense_Mutation_p.C663Y|BRDT_ENST00000402388.1_Missense_Mutation_p.C709Y	NM_001242810.1	NP_001229739	Q58F21	BRDT_HUMAN	bromodomain, testis-specific	709	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein serine/threonine kinase activity|transcription coactivator activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)		ATAGGATATTGTGTGCAAGAC	0.343													8	142					0	0	1	0	0	A	92459650	G	A	92459650	3	1	81	1	0	0	0	0	1	0	0	0	1510	1377	48	2	2180	2	BRDT	1	92459650	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	13162	92459650	156790971	688	4304											
BTBD8	284697	broad.mit.edu	37	1	92612769	92612769	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:92612769A>G	ENST00000342818.3	+	8	1199	c.963A>G	c.(961-963)gaA>gaG	p.E321E	BTBD8_ENST00000540648.1_3'UTR	NM_183242.3	NP_899065.2	Q5XKL5	BTBD8_HUMAN	BTB (POZ) domain containing 8	321						nucleus				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)	16		all_lung(203;0.0484)|Lung NSC(277;0.126)|Glioma(108;0.222)		all cancers(265;0.0153)|Epithelial(280;0.0982)		CTATACTAGAATGCCTGATTA	0.328													11	134					0	0	1	0	0	G	92612769	A	G	92612769	2	3	81	1	0	0	0	0	0	0	0	1	1550	98	4	3		3	BTBD8	1	92612769	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	153119	92612769	156637852	689	4305											
GLMN	11146	broad.mit.edu	37	1	92729282	92729282	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:92729282C>T	ENST00000370360.3	-	15	1388	c.1307G>A	c.(1306-1308)cGt>cAt	p.R436H	GLMN_ENST00000534881.1_Missense_Mutation_p.R422H	NM_053274.2	NP_444504.1	Q92990	GLMN_HUMAN	glomulin, FKBP associated protein	436					muscle cell differentiation|negative regulation of T cell proliferation|positive regulation of cytokine secretion|positive regulation of interleukin-2 biosynthetic process|positive regulation of phosphorylation|regulation of gene expression, epigenetic|vasculogenesis	intracellular	hepatocyte growth factor receptor binding			endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)	17		all_lung(203;0.00827)|Lung NSC(277;0.0295)		all cancers(265;0.00702)|GBM - Glioblastoma multiforme(16;0.0381)|Epithelial(280;0.0989)		TTTGTTGTTACGTGTTCTCTG	0.343									Multiple Glomus Tumors (of the Skin), Familial				98	84					0	0	1	0	0	T	92729282	C	T	92729282	3	4	81	1	0	0	0	0	1	0	0	0	6490	536	19	1	497	1	GLMN	1	92729282	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	116513	92729282	156521339	690	4306											
GLMN	11146	broad.mit.edu	37	1	92733470	92733470	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:92733470C>A	ENST00000370360.3	-	11	1179	c.1098G>T	c.(1096-1098)caG>caT	p.Q366H	GLMN_ENST00000534881.1_Splice_Site_p.Q366H	NM_053274.2	NP_444504.1	Q92990	GLMN_HUMAN	glomulin, FKBP associated protein	366					muscle cell differentiation|negative regulation of T cell proliferation|positive regulation of cytokine secretion|positive regulation of interleukin-2 biosynthetic process|positive regulation of phosphorylation|regulation of gene expression, epigenetic|vasculogenesis	intracellular	hepatocyte growth factor receptor binding			endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)	17		all_lung(203;0.00827)|Lung NSC(277;0.0295)		all cancers(265;0.00702)|GBM - Glioblastoma multiforme(16;0.0381)|Epithelial(280;0.0989)		TTTTATTTACCTGAGGTACAG	0.333									Multiple Glomus Tumors (of the Skin), Familial				10	121					1.08611e-07	1.27405e-07	1	1	0	A	92733470	C	A	92733470	5	1	81	1	0	0	0	0	0	0	1	0	6490	695	24	4	722	4	GLMN	1	92733470	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	4188	92733470	156517151	691	4307											
GLMN	11146	broad.mit.edu	37	1	92754541	92754541	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:92754541C>T	ENST00000370360.3	-	6	643	c.562G>A	c.(562-564)Gtg>Atg	p.V188M	GLMN_ENST00000534881.1_Missense_Mutation_p.V188M	NM_053274.2	NP_444504.1	Q92990	GLMN_HUMAN	glomulin, FKBP associated protein	188					muscle cell differentiation|negative regulation of T cell proliferation|positive regulation of cytokine secretion|positive regulation of interleukin-2 biosynthetic process|positive regulation of phosphorylation|regulation of gene expression, epigenetic|vasculogenesis	intracellular	hepatocyte growth factor receptor binding			endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)	17		all_lung(203;0.00827)|Lung NSC(277;0.0295)		all cancers(265;0.00702)|GBM - Glioblastoma multiforme(16;0.0381)|Epithelial(280;0.0989)		ACTTCTTCCACAAAAGGCTTA	0.333									Multiple Glomus Tumors (of the Skin), Familial				32	97					0	0	1	0	0	T	92754541	C	T	92754541	3	4	81	1	0	0	0	0	1	0	0	0	6490	478	17	2	1278	2	GLMN	1	92754541	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	21071	92754541	156496080	692	4308											
RPAP2	79871	broad.mit.edu	37	1	92767053	92767053	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:92767053C>T	ENST00000610020.1	+	3	249	c.140C>T	c.(139-141)gCt>gTt	p.A47V	RPAP2_ENST00000484158.1_Intron	NM_024813.2	NP_079089.2	Q8IXW5	RPAP2_HUMAN	RNA polymerase II associated protein 2							integral to membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	22		all_lung(203;0.0565)|Lung NSC(277;0.152)|Glioma(108;0.222)		all cancers(265;0.00647)|GBM - Glioblastoma multiforme(16;0.0234)|Epithelial(280;0.115)		CTAGAAGCAGCTGTGAGAAAG	0.323													20	54					0	0	1	0	0	T	92767053	C	T	92767053	3	4	81	1	0	0	0	0	1	0	0	0	13594	797	28	2	150	2	RPAP2	1	92767053	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	12512	92767053	156483568	693	4309											
RPAP2	79871	broad.mit.edu	37	1	92769570	92769570	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:92769570G>A	ENST00000610020.1	+	4	380	c.271G>A	c.(271-273)Gtg>Atg	p.V91M	RPAP2_ENST00000484158.1_3'UTR	NM_024813.2	NP_079089.2	Q8IXW5	RPAP2_HUMAN	RNA polymerase II associated protein 2							integral to membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	22		all_lung(203;0.0565)|Lung NSC(277;0.152)|Glioma(108;0.222)		all cancers(265;0.00647)|GBM - Glioblastoma multiforme(16;0.0234)|Epithelial(280;0.115)		CAGTGATGTCGTGGATGAACG	0.348													6	84					0	0	1	0	0	A	92769570	G	A	92769570	3	1	81	1	0	0	0	0	1	0	0	0	13594	1145	40	1	285	1	RPAP2	1	92769570	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2517	92769570	156481051	694	4310											
RPAP2	79871	broad.mit.edu	37	1	92789215	92789215	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:92789215C>T	ENST00000610020.1	+	8	847	c.738C>T	c.(736-738)agC>agT	p.S246S	RPAP2_ENST00000484158.1_3'UTR	NM_024813.2	NP_079089.2	Q8IXW5	RPAP2_HUMAN	RNA polymerase II associated protein 2							integral to membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	22		all_lung(203;0.0565)|Lung NSC(277;0.152)|Glioma(108;0.222)		all cancers(265;0.00647)|GBM - Glioblastoma multiforme(16;0.0234)|Epithelial(280;0.115)		ACCAAAAAAGCATAATGAAAA	0.393													8	91					0	0	1	0	0	T	92789215	C	T	92789215	2	4	81	1	0	0	0	0	0	0	0	1	13594	709	25	2		2	RPAP2	1	92789215	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	19645	92789215	156461406	695	4311											
EVI5	7813	broad.mit.edu	37	1	93159366	93159366	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:93159366delT	ENST00000370331.1	-	9	1231	c.1222delA	c.(1222-1224)atgfs	p.M408fs	EVI5_ENST00000540033.1_Frame_Shift_Del_p.M408fs|EVI5_ENST00000543509.1_Frame_Shift_Del_p.M408fs	NM_005665.4	NP_005656.4	O60447	EVI5_HUMAN	ecotropic viral integration site 5	408	Dimerization.|Interaction with alpha-tubulin, gamma- tubulin, BIRC5 and FBXO5.|Targeting to the centrosomes.				cell cycle|cell division|cell proliferation|multicellular organismal development	microtubule organizing center|nucleus|spindle	protein binding|Rab GTPase activator activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|skin(1)	38		all_lung(203;0.00146)|Lung NSC(277;0.00565)|all_neural(321;0.185)|Melanoma(281;0.193)|Glioma(108;0.203)		Epithelial(280;8.09e-25)|OV - Ovarian serous cystadenocarcinoma(397;1.27e-22)|all cancers(265;1.74e-21)|GBM - Glioblastoma multiforme(16;0.00233)|BRCA - Breast invasive adenocarcinoma(282;0.211)		TACTTTTTCATTTTTTTTGAA	0.318													40	126	---	---	---	---						-	93159366	T	-	93159366	7	5	81	1	0	1	0	1	0	0	0	0	5317	1493	52	0	1250	0	EVI5	1	93159366	Frame_Shift_Del	DEL	T	TCGA-DU-6392-01A-11D-1705-08	370151	93159366	156091255	696	4312											
RPL5	6125	broad.mit.edu	37	1	93301914	93301914	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:93301914G>T	ENST00000370321.3	+	5	582	c.492G>T	c.(490-492)aaG>aaT	p.K164N		NM_000969.3	NP_000960.2	P46777	RL5_HUMAN	ribosomal protein L5	164					endocrine pancreas development|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	5S rRNA binding|protein binding|structural constituent of ribosome			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9		all_lung(203;0.00265)|Lung NSC(277;0.0056)|all_neural(321;0.185)|Melanoma(281;0.192)|Glioma(108;0.203)		GBM - Glioblastoma multiforme(16;0.000305)|all cancers(265;0.000343)|Epithelial(280;0.0927)		GTGCCCTGAAGGGAGCTGTGG	0.483													8	125					3.09899e-07	3.60815e-07	1	1	0	T	93301914	G	T	93301914	3	4	81	1	0	0	0	0	1	0	0	0	13649	991	35	4	510	4	RPL5	1	93301914	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	142548	93301914	155948707	697	4313											
FAM69A	388650	broad.mit.edu	37	1	93341945	93341945	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:93341945A>C	ENST00000370310.4	-	2	167	c.97T>G	c.(97-99)Tgg>Ggg	p.W33G		NM_001006605.4|NM_001252269.1|NM_001252271.1	NP_001006606.2|NP_001239198.1|NP_001239200.1	Q5T7M9	FA69A_HUMAN	family with sequence similarity 69, member A	33						endoplasmic reticulum membrane|integral to membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)	4		all_lung(203;0.00265)|Lung NSC(277;0.00562)|all_neural(321;0.185)|Melanoma(281;0.192)|Glioma(108;0.203)		GBM - Glioblastoma multiforme(16;0.000563)|all cancers(265;0.000751)|Epithelial(280;0.127)		ACCACTAACCAGGAAAAGAAA	0.348													8	51					0	0	1	0	0	C	93341945	A	C	93341945	3	2	81	1	0	0	0	0	1	0	0	0	5637	188	7	5	1205	5	FAM69A	1	93341945	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	40031	93341945	155908676	698	4314											
MTF2	22823	broad.mit.edu	37	1	93594929	93594929	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:93594929G>T	ENST00000370298.4	+	11	1373	c.1084G>T	c.(1084-1086)Gag>Tag	p.E362*	MTF2_ENST00000370303.4_Intron|MTF2_ENST00000540243.1_Nonsense_Mutation_p.E260*|MTF2_ENST00000471953.1_3'UTR|MTF2_ENST00000545708.1_Nonsense_Mutation_p.E260*	NM_001164392.1|NM_007358.3	NP_001157864.1|NP_031384	Q9Y483	MTF2_HUMAN	metal response element binding transcription factor 2	362						nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_lung(203;0.00196)|Lung NSC(277;0.00902)|Melanoma(281;0.099)|Ovarian(761;0.109)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00076)|GBM - Glioblastoma multiforme(16;0.00157)|Epithelial(280;0.0886)		TTTCAAAGCAGAGAAAGAACC	0.378													6	175					0.00198382	0.00209725	1	1	0	T	93594929	G	T	93594929	4	4	81	1	0	0	0	0	0	1	0	0	9971	943	33	4	1126	4	MTF2	1	93594929	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	252984	93594929	155655692	699	4315											
MTF2	22823	broad.mit.edu	37	1	93602428	93602428	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:93602428G>A	ENST00000370298.4	+	15	1915	c.1626G>A	c.(1624-1626)gaG>gaA	p.E542E	MTF2_ENST00000370303.4_Silent_p.E485E|MTF2_ENST00000540243.1_Silent_p.E440E|MTF2_ENST00000471953.1_3'UTR|MTF2_ENST00000545708.1_Silent_p.E440E	NM_001164392.1|NM_007358.3	NP_001157864.1|NP_031384	Q9Y483	MTF2_HUMAN	metal response element binding transcription factor 2	542						nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_lung(203;0.00196)|Lung NSC(277;0.00902)|Melanoma(281;0.099)|Ovarian(761;0.109)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00076)|GBM - Glioblastoma multiforme(16;0.00157)|Epithelial(280;0.0886)		CAGATCAGGAGTTACAACTCA	0.388													95	66					0	0	1	0	0	A	93602428	G	A	93602428	2	1	81	1	0	0	0	0	0	0	0	1	9971	1020	36	2		2	MTF2	1	93602428	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	7499	93602428	155648193	700	4316											
TMED5	50999	broad.mit.edu	37	1	93621972	93621972	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:93621972A>G	ENST00000370282.3	-	3	841	c.356T>C	c.(355-357)gTg>gCg	p.V119A	TMED5_ENST00000479918.1_Missense_Mutation_p.V119A|TMED5_ENST00000370280.1_Missense_Mutation_p.V119A|TMED5_ENST00000483033.1_5'UTR	NM_016040.4	NP_057124.3	Q9Y3A6	TMED5_HUMAN	transmembrane emp24 protein transport domain containing 5	119	GOLD.				transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment|integral to membrane				breast(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)	6		all_lung(203;0.0223)|Lung NSC(277;0.071)|Melanoma(281;0.147)|Glioma(108;0.188)		all cancers(265;0.00108)|GBM - Glioblastoma multiforme(16;0.00407)|Epithelial(280;0.0797)		AAAGAAAATCACCTTCTCAGA	0.328													7	110					0	0	1	0	0	G	93621972	A	G	93621972	3	3	81	1	0	0	0	0	1	0	0	0	16067	159	6	3	394	3	TMED5	1	93621972	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	19544	93621972	155628649	701	4317											
CCDC18	343099	broad.mit.edu	37	1	93646192	93646192	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:93646192G>A	ENST00000557479.1	+	1	273	c.105G>A	c.(103-105)cgG>cgA	p.R35R	CCDC18_ENST00000401026.3_5'UTR|CCDC18_ENST00000343253.7_Intron|TMED5_ENST00000370282.3_5'UTR|CCDC18_ENST00000338949.4_5'UTR|CCDC18_ENST00000334652.5_5'UTR	NM_206886.3	NP_996769.3	Q5T9S5	CCD18_HUMAN	coiled-coil domain containing 18	0										breast(5)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967)		ACGATCCCCGGCAAGCCCCGC	0.711													14	6					0	0	1	0	0	A	93646192	G	A	93646192	2	1	81	1	0	0	0	0	0	0	0	1	2813	1190	42	2		2	CCDC18	1	93646192	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	24220	93646192	155604429	702	4318											
FNBP1L	54874	broad.mit.edu	37	1	94016649	94016649	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:94016649G>T	ENST00000260506.8	+	14	1774	c.1623G>T	c.(1621-1623)gaG>gaT	p.E541D	FNBP1L_ENST00000370256.4_Missense_Mutation_p.E594D|FNBP1L_ENST00000370253.2_Missense_Mutation_p.E541D|FNBP1L_ENST00000604705.1_Missense_Mutation_p.E599D|FNBP1L_ENST00000271234.7_Missense_Mutation_p.E599D	NM_001024948.2|NM_017737.4	NP_001020119.1|NP_060207.2	Q5T0N5	FBP1L_HUMAN	formin binding protein 1-like	599	Interaction with DAAM1, DIAPH1 and DIAPH2.|Interaction with DNM1.|Interaction with DNM2 and WASL.|SH3.				endocytosis	cell cortex|cytoplasmic membrane-bounded vesicle|cytoskeleton|plasma membrane	lipid binding			breast(2)|kidney(2)|large_intestine(4)|lung(2)|urinary_tract(1)	11		all_lung(203;0.00206)|Lung NSC(277;0.00902)|Melanoma(281;0.155)		all cancers(265;0.00666)|GBM - Glioblastoma multiforme(16;0.0378)|Epithelial(280;0.111)		TAACTCTAGAGAAAAACAGTA	0.413													11	29					9.70103e-10	1.17698e-09	1	1	0	T	94016649	G	T	94016649	3	4	81	1	0	0	0	0	1	0	0	0	5999	933	33	4	1859	4	FNBP1L	1	94016649	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	370457	94016649	155233972	703	4319											
BCAR3	8412	broad.mit.edu	37	1	94048337	94048337	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:94048337G>T	ENST00000370244.1	-	9	1495	c.1207C>A	c.(1207-1209)Ccc>Acc	p.P403T	BCAR3_ENST00000260502.6_Missense_Mutation_p.P403T|BCAR3_ENST00000370243.1_Missense_Mutation_p.P403T|BCAR3_ENST00000466632.1_5'UTR|BCAR3_ENST00000539242.1_Missense_Mutation_p.P79T|BCAR3_ENST00000370247.3_Missense_Mutation_p.P312T	NM_001261408.1	NP_001248337.1	O75815	BCAR3_HUMAN	breast cancer anti-estrogen resistance 3	403					response to drug|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	25		all_lung(203;0.00145)|Lung NSC(277;0.00662)		all cancers(265;0.0126)|GBM - Glioblastoma multiforme(16;0.0467)|Epithelial(280;0.166)		TTAGGCGGGGGCTTAGGGCAC	0.627													18	54					6.33239e-15	8.06005e-15	1	1	0	T	94048337	G	T	94048337	3	4	81	1	0	0	0	0	1	0	0	0	1347	1203	42	5	1294	5	BCAR3	1	94048337	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	31688	94048337	155202284	704	4320											
BCAR3	8412	broad.mit.edu	37	1	94048358	94048358	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:94048358C>A	ENST00000370244.1	-	9	1474	c.1186G>T	c.(1186-1188)Gac>Tac	p.D396Y	BCAR3_ENST00000260502.6_Missense_Mutation_p.D396Y|BCAR3_ENST00000370243.1_Missense_Mutation_p.D396Y|BCAR3_ENST00000466632.1_5'UTR|BCAR3_ENST00000539242.1_Missense_Mutation_p.D72Y|BCAR3_ENST00000370247.3_Missense_Mutation_p.D305Y	NM_001261408.1	NP_001248337.1	O75815	BCAR3_HUMAN	breast cancer anti-estrogen resistance 3	396					response to drug|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	25		all_lung(203;0.00145)|Lung NSC(277;0.00662)		all cancers(265;0.0126)|GBM - Glioblastoma multiforme(16;0.0467)|Epithelial(280;0.166)		AGTTGACTGTCTGATCCCCTC	0.637													7	70					5.18039e-06	5.88187e-06	1	1	0	A	94048358	C	A	94048358	3	1	81	1	0	0	0	0	1	0	0	0	1347	913	32	4	1315	4	BCAR3	1	94048358	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	21	94048358	155202263	705	4321											
BCAR3	8412	broad.mit.edu	37	1	94049657	94049657	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:94049657G>A	ENST00000370244.1	-	8	1239	c.951C>T	c.(949-951)agC>agT	p.S317S	BCAR3_ENST00000260502.6_Silent_p.S317S|BCAR3_ENST00000370243.1_Silent_p.S317S|BCAR3_ENST00000466632.1_5'UTR|BCAR3_ENST00000539242.1_5'UTR|BCAR3_ENST00000370247.3_Silent_p.S226S	NM_001261408.1	NP_001248337.1	O75815	BCAR3_HUMAN	breast cancer anti-estrogen resistance 3	317					response to drug|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	25		all_lung(203;0.00145)|Lung NSC(277;0.00662)		all cancers(265;0.0126)|GBM - Glioblastoma multiforme(16;0.0467)|Epithelial(280;0.166)		AGGCGGGCTGGCTACCACTCT	0.453													37	27					0	0	1	0	0	A	94049657	G	A	94049657	2	1	81	1	0	0	0	0	0	0	0	1	1347	1194	42	2		2	BCAR3	1	94049657	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1299	94049657	155200964	706	4322											
BCAR3	8412	broad.mit.edu	37	1	94054696	94054696	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:94054696G>A	ENST00000370244.1	-	7	1055	c.767C>T	c.(766-768)aCg>aTg	p.T256M	BCAR3_ENST00000260502.6_Missense_Mutation_p.T256M|BCAR3_ENST00000370243.1_Missense_Mutation_p.T256M|BCAR3_ENST00000370247.3_Missense_Mutation_p.T165M	NM_001261408.1	NP_001248337.1	O75815	BCAR3_HUMAN	breast cancer anti-estrogen resistance 3	256					response to drug|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	25		all_lung(203;0.00145)|Lung NSC(277;0.00662)		all cancers(265;0.0126)|GBM - Glioblastoma multiforme(16;0.0467)|Epithelial(280;0.166)		CAGAGGCACCGTCCTGTTGAT	0.672													4	24					0	0	1	0	0	A	94054696	G	A	94054696	3	1	81	1	0	0	0	0	1	0	0	0	1347	1145	40	1	1742	1	BCAR3	1	94054696	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	5039	94054696	155195925	707	4323											
BCAR3	8412	broad.mit.edu	37	1	94057826	94057826	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:94057826C>T	ENST00000370244.1	-	6	770	c.482G>A	c.(481-483)cGa>cAa	p.R161Q	RP5-1033H22.2_ENST00000427243.1_RNA|BCAR3_ENST00000260502.6_Missense_Mutation_p.R161Q|RP5-1033H22.2_ENST00000417401.1_RNA|RP5-1033H22.2_ENST00000431770.1_RNA|BCAR3_ENST00000370243.1_Missense_Mutation_p.R161Q|BCAR3_ENST00000370247.3_Missense_Mutation_p.R70Q	NM_001261408.1	NP_001248337.1	O75815	BCAR3_HUMAN	breast cancer anti-estrogen resistance 3	161	SH2.				response to drug|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	25		all_lung(203;0.00145)|Lung NSC(277;0.00662)		all cancers(265;0.0126)|GBM - Glioblastoma multiforme(16;0.0467)|Epithelial(280;0.166)		AGGTACCTGTCGGGGGATGCG	0.627													16	30					0	0	1	0	0	T	94057826	C	T	94057826	3	4	81	1	0	0	0	0	1	0	0	0	1347	884	31	1	2031	1	BCAR3	1	94057826	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3130	94057826	155192795	708	4324											
ABCA4	24	broad.mit.edu	37	1	94467503	94467503	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:94467503C>T	ENST00000370225.3	-	45	6279	c.6193G>A	c.(6193-6195)Gac>Aac	p.D2065N	ABCA4_ENST00000535881.1_Missense_Mutation_p.D184N|ABCA4_ENST00000536513.1_Missense_Mutation_p.D335N|ABCA4_ENST00000465352.1_5'UTR	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	2065	ABC transporter 2.				phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		GCCAGGCAGTCGGCGTAGACA	0.562													37	28					0	0	1	0	0	T	94467503	C	T	94467503	3	4	81	1	0	0	0	0	1	0	0	0	34	884	31	1	652	1	ABCA4	1	94467503	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	409677	94467503	154783118	709	4325											
ABCA4	24	broad.mit.edu	37	1	94496601	94496601	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:94496601C>T	ENST00000370225.3	-	28	4290	c.4204G>A	c.(4204-4206)Gct>Act	p.A1402T		NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	1402					phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		AGGGTCAAAGCGGGGTATTCG	0.532													14	26					0	0	1	0	0	T	94496601	C	T	94496601	3	4	81	1	0	0	0	0	1	0	0	0	34	768	27	1	2709	1	ABCA4	1	94496601	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	29098	94496601	154754020	710	4326											
ARHGAP29	9411	broad.mit.edu	37	1	94640257	94640257	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:94640257T>G	ENST00000260526.6	-	23	3136	c.2954A>C	c.(2953-2955)aAg>aCg	p.K985T		NM_004815.3	NP_004806.3	Q52LW3	RHG29_HUMAN	Rho GTPase activating protein 29	985					Rho protein signal transduction	cytosol	metal ion binding|Rho GTPase activator activity			NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		ATCTTCTATCTTTTGGGATGC	0.398													62	144					0	0	1	0	0	G	94640257	T	G	94640257	3	3	81	1	0	0	0	0	1	0	0	0	875	1609	56	5	835	5	ARHGAP29	1	94640257	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	143656	94640257	154610364	711	4327											
ARHGAP29	9411	broad.mit.edu	37	1	94685814	94685814	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:94685814C>T	ENST00000260526.6	-	3	522	c.340G>A	c.(340-342)Gct>Act	p.A114T	ARHGAP29_ENST00000370217.3_Splice_Site_p.A114T	NM_004815.3	NP_004806.3	Q52LW3	RHG29_HUMAN	Rho GTPase activating protein 29	114					Rho protein signal transduction	cytosol	metal ion binding|Rho GTPase activator activity			NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		TCTTCCTTACCTTTCACTTTT	0.368													13	160					0	0	1	0	0	T	94685814	C	T	94685814	5	4	81	1	0	0	0	0	0	0	1	0	875	695	24	2	3529	2	ARHGAP29	1	94685814	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	45557	94685814	154564807	712	4328											
F3	2152	broad.mit.edu	37	1	94998763	94998763	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:94998763G>A	ENST00000334047.7	-	4	637	c.474C>T	c.(472-474)acC>acT	p.T158T	F3_ENST00000480356.1_5'UTR|F3_ENST00000370207.4_Silent_p.T158T	NM_001993.4	NP_001984.1	P13726	TF_HUMAN	coagulation factor III (thromboplastin, tissue factor)	158					activation of caspase activity|activation of plasma proteins involved in acute inflammatory response|anti-apoptosis|blood coagulation, extrinsic pathway|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of platelet-derived growth factor receptor signaling pathway|positive regulation of protein kinase B signaling cascade	extracellular matrix|extracellular space|integral to membrane	cell surface binding|phospholipid binding|protease binding			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(7)	14		all_lung(203;0.00106)|Lung NSC(277;0.00475)		all cancers(265;0.0232)|Epithelial(280;0.121)	Coagulation factor VIIa(DB00036)	CATCTTCTACGGTCACATTCA	0.398													5	104					0	0	1	0	0	A	94998763	G	A	94998763	2	1	81	1	0	0	0	0	0	0	0	1	5375	1103	39	1		1	F3	1	94998763	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	312949	94998763	154251858	713	4329											
SLC44A3	126969	broad.mit.edu	37	1	95357892	95357892	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:95357892G>A	ENST00000271227.6	+	14	1778	c.1676G>A	c.(1675-1677)cGg>cAg	p.R559Q	SLC44A3_ENST00000529450.1_Missense_Mutation_p.R526Q|SLC44A3_ENST00000532427.1_Missense_Mutation_p.R479Q|SLC44A3_ENST00000527077.1_Missense_Mutation_p.R491Q|SLC44A3_ENST00000446120.2_Missense_Mutation_p.R523Q|SLC44A3_ENST00000467909.1_Missense_Mutation_p.R511Q	NM_001114106.2|NM_001258340.1|NM_001258341.1	NP_001107578.1|NP_001245269.1|NP_001245270.1	Q8N4M1	CTL3_HUMAN	solute carrier family 44, member 3	559						integral to membrane|plasma membrane	choline transmembrane transporter activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|prostate(2)|stomach(1)|urinary_tract(1)	23		all_lung(203;0.000712)|Lung NSC(277;0.00316)		all cancers(265;0.039)|Epithelial(280;0.124)	Choline(DB00122)	AACTACAATCGGGCATTCCAG	0.408													126	88					0	0	1	0	0	A	95357892	G	A	95357892	3	1	81	1	0	0	0	0	1	0	0	0	14692	1116	39	1	1730	1	SLC44A3	1	95357892	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	359129	95357892	153892729	714	4330											
CNN3	1266	broad.mit.edu	37	1	95367782	95367782	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:95367782A>G	ENST00000370206.4	-	4	662	c.279T>C	c.(277-279)atT>atC	p.I93I	CNN3_ENST00000545882.1_Silent_p.I52I|CNN3_ENST00000394202.4_Intron|CNN3_ENST00000487539.1_5'UTR|CNN3_ENST00000538964.1_Silent_p.I93I	NM_001839.3	NP_001830.1	Q15417	CNN3_HUMAN	calponin 3, acidic	93	CH.				actomyosin structure organization|smooth muscle contraction		actin binding|calmodulin binding|tropomyosin binding|troponin C binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(9)|prostate(1)|stomach(1)|urinary_tract(2)	18		all_lung(203;0.00206)|Lung NSC(277;0.00948)		all cancers(265;0.0325)|Epithelial(280;0.0861)		CATAAGCCTGAATAGCTTTAA	0.348													19	42					0	0	1	0	0	G	95367782	A	G	95367782	2	3	81	1	0	0	0	0	0	0	0	1	3634	242	9	3		3	CNN3	1	95367782	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	9890	95367782	153882839	715	4331											
TMEM56	148534	broad.mit.edu	37	1	95609489	95609489	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:95609489T>C	ENST00000370203.4	+	2	323	c.32T>C	c.(31-33)gTt>gCt	p.V11A	TMEM56_ENST00000463375.1_3'UTR|RP11-57H12.6_ENST00000604534.1_Missense_Mutation_p.V11A	NM_001199679.1|NM_152487.2	NP_001186608.1|NP_689700.1	Q96MV1	TMM56_HUMAN	transmembrane protein 56	11						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(2)|skin(1)|urinary_tract(1)	12		all_lung(203;0.0232)|Lung NSC(277;0.0739)		all cancers(265;0.133)		CTCATCAGTGTTACCTGTATC	0.333													54	85					0	0	1	0	0	C	95609489	T	C	95609489	3	2	81	1	0	0	0	0	1	0	0	0	16243	1725	60	3	34	3	TMEM56	1	95609489	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	241707	95609489	153641132	716	4332											
DPYD	1806	broad.mit.edu	37	1	97771825	97771825	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:97771825C>T	ENST00000370192.3	-	17	2187	c.2087G>A	c.(2086-2088)cGc>cAc	p.R696H	DPYD-AS1_ENST00000422980.1_RNA	NM_000110.3	NP_000101	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	696					'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	CCTAACCCAGCGGCAGATGTT	0.428													54	194					0	0	1	0	0	T	97771825	C	T	97771825	3	4	81	1	0	0	0	0	1	0	0	0	4771	768	27	1	1018	1	DPYD	1	97771825	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2162336	97771825	151478796	717	4333											
DPYD	1806	broad.mit.edu	37	1	98165066	98165066	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:98165066G>T	ENST00000370192.3	-	6	621	c.521C>A	c.(520-522)cCt>cAt	p.P174H	DPYD_ENST00000474241.1_5'UTR|DPYD_ENST00000423006.2_3'UTR	NM_000110.3	NP_000101	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	174					'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	AGGCAGCGAAGGATTTCTGAT	0.403													62	241					3.89499e-28	5.17959e-28	1	1	0	T	98165066	G	T	98165066	3	4	81	1	0	0	0	0	1	0	0	0	4771	1000	35	4	2628	4	DPYD	1	98165066	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	393241	98165066	151085555	718	4334											
DPYD	1806	broad.mit.edu	37	1	98186449	98186449	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:98186449A>G	ENST00000306031.5	-	6	643	c.517T>C	c.(517-519)Ttg>Ctg	p.L173L	DPYD_ENST00000474241.1_5'UTR|DPYD_ENST00000423006.2_Intron|DPYD_ENST00000370192.3_Intron	NM_001160301.1	NP_001153773	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	0					'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	AGTCTTTACAAATGATTCATT	0.338													3	26					0	0	1	0	0	G	98186449	A	G	98186449	2	3	81	1	0	0	0	0	0	0	0	1	4771	11	1	3		3	DPYD	1	98186449	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	21383	98186449	151064172	719	4335											
DPYD	1806	broad.mit.edu	37	1	98187214	98187214	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:98187214G>T	ENST00000370192.3	-	5	435	c.335C>A	c.(334-336)gCt>gAt	p.A112D	DPYD_ENST00000423006.2_Missense_Mutation_p.A75D|DPYD_ENST00000306031.5_Missense_Mutation_p.A112D	NM_000110.3	NP_000101	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	112					'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	CATCTTAGCAGCTCCATAATA	0.323													18	43					2.39187e-15	3.05109e-15	1	1	0	T	98187214	G	T	98187214	3	4	81	1	0	0	0	0	1	0	0	0	4771	971	34	4	2861	4	DPYD	1	98187214	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	765	98187214	151063407	720	4336											
SNX7	51375	broad.mit.edu	37	1	99161245	99161245	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:99161245T>G	ENST00000370189.5	+	6	983	c.619T>G	c.(619-621)Tct>Gct	p.S207A	SNX7_ENST00000306121.3_Missense_Mutation_p.S271A|SNX7_ENST00000529992.1_Missense_Mutation_p.S216A			Q9UNH6	SNX7_HUMAN	sorting nexin 7	207					cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding|protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	13		all_epithelial(167;7.64e-07)|all_lung(203;0.0006)|Lung NSC(277;0.00137)		Epithelial(280;0.0521)|all cancers(265;0.0687)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.207)|Colorectal(170;0.234)		AGATAAAATATCTCAGAGAAT	0.318													29	77					0	0	1	0	0	G	99161245	T	G	99161245	3	3	81	1	0	0	0	0	1	0	0	0	14961	1435	50	4	829	4	SNX7	1	99161245	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	974031	99161245	150089376	721	4337											
PALMD	54873	broad.mit.edu	37	1	100127886	100127886	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:100127886A>C	ENST00000263174.4	+	2	432	c.57A>C	c.(55-57)aaA>aaC	p.K19N	PALMD_ENST00000605497.1_Missense_Mutation_p.K19N	NM_017734.4	NP_060204.1	Q9NP74	PALMD_HUMAN	palmdelphin	19					regulation of cell shape	cytoplasm|membrane				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(6)|pancreas(1)|prostate(2)	31		all_epithelial(167;0.000813)|all_lung(203;0.0214)|Lung NSC(277;0.0216)		Epithelial(280;0.067)|all cancers(265;0.117)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)		ATAAAAGAAAAATACAGGAAG	0.313													4	49					0	0	1	0	0	C	100127886	A	C	100127886	3	2	81	1	0	0	0	0	1	0	0	0	11458	11	1	5	63	5	PALMD	1	100127886	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	966641	100127886	149122735	722	4338											
PALMD	54873	broad.mit.edu	37	1	100155449	100155449	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:100155449T>C	ENST00000605497.1	+	7	1758	c.1633T>C	c.(1633-1635)Tgc>Cgc	p.C545R	PALMD_ENST00000263174.4_Intron			Q9NP74	PALMD_HUMAN	palmdelphin	0					regulation of cell shape	cytoplasm|membrane				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(6)|pancreas(1)|prostate(2)	31		all_epithelial(167;0.000813)|all_lung(203;0.0214)|Lung NSC(277;0.0216)		Epithelial(280;0.067)|all cancers(265;0.117)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)		TGACAAGGCATGCCACTGCTG	0.463													22	49					0	0	1	0	0	C	100155449	T	C	100155449	3	2	81	1	0	0	0	0	1	0	0	0	11458	1479	51	3		3	PALMD	1	100155449	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	27563	100155449	149095172	723	4339											
FRRS1	391059	broad.mit.edu	37	1	100174574	100174574	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:100174574C>T	ENST00000287474.5	-	17	2362	c.1761G>A	c.(1759-1761)aaG>aaA	p.K587K	FRRS1_ENST00000414213.1_3'UTR	NM_001013660.2	NP_001013682.2	Q6ZNA5	FRRS1_HUMAN	ferric-chelate reductase 1	0					electron transport chain|transport	integral to membrane	ferric-chelate reductase activity|metal ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(12)|pancreas(1)|skin(1)|urinary_tract(1)	26		all_epithelial(167;2.09e-06)|all_lung(203;0.000435)|Lung NSC(277;0.00201)		Epithelial(280;0.0718)|all cancers(265;0.126)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.206)		AAGCCAAGGTCTTTGCTTGCT	0.383													46	38					0	0	1	0	0	T	100174574	C	T	100174574	2	4	81	1	0	0	0	0	0	0	0	1	6095	912	32	2		2	FRRS1	1	100174574	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	19125	100174574	149076047	724	4340											
AGL	178	broad.mit.edu	37	1	100353658	100353658	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:100353658C>A	ENST00000294724.4	+	21	3284	c.2806C>A	c.(2806-2808)Ctt>Att	p.L936I	AGL_ENST00000370161.2_Missense_Mutation_p.L920I|AGL_ENST00000370165.3_Missense_Mutation_p.L936I|AGL_ENST00000361522.4_Missense_Mutation_p.L919I|AGL_ENST00000361915.3_Missense_Mutation_p.L936I|AGL_ENST00000361302.3_Missense_Mutation_p.L920I|AGL_ENST00000370163.3_Missense_Mutation_p.L936I	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase	936					glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|isoamylase complex|nucleus	4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		ATATGCAGGTCTTCAAGGTAA	0.418													5	76					0.184627	0.18622	1	1	0	A	100353658	C	A	100353658	3	1	81	1	0	0	0	0	1	0	0	0	381	913	32	4	2953	4	AGL	1	100353658	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	179084	100353658	148896963	725	4341											
HIAT1	64645	broad.mit.edu	37	1	100525513	100525513	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:100525513C>T	ENST00000370152.3	+	4	459	c.323C>T	c.(322-324)aCg>aTg	p.T108M	RP4-714D9.2_ENST00000432294.1_RNA	NM_033055.2	NP_149044.2	Q96MC6	HIAT1_HUMAN	hippocampus abundant transcript 1	108					transmembrane transport	integral to membrane|plasma membrane	transporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(8)|skin(1)	16		all_epithelial(167;2.96e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.0832)|all cancers(265;0.136)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.195)		TTGCTGCTAACGGTGTTTTTC	0.378													19	212					0	0	1	0	0	T	100525513	C	T	100525513	3	4	81	1	0	0	0	0	1	0	0	0	7138	536	19	1	337	1	HIAT1	1	100525513	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	171855	100525513	148725108	726	4342											
LRRC39	127495	broad.mit.edu	37	1	100620647	100620647	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:100620647G>A	ENST00000370138.1	-	8	970	c.772C>T	c.(772-774)Caa>Taa	p.Q258*	LRRC39_ENST00000342895.3_Nonsense_Mutation_p.Q258*|LRRC39_ENST00000370137.1_Nonsense_Mutation_p.Q258*	NM_001256385.1	NP_001243314.1	Q96DD0	LRC39_HUMAN	leucine rich repeat containing 39	258										endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(1)	13		all_epithelial(167;0.000542)|all_lung(203;0.0154)|Lung NSC(277;0.0155)		Epithelial(280;0.0826)|all cancers(265;0.135)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.195)		GGAATATCTTGCAGTTTATTG	0.368													9	122					0	0	1	0	0	A	100620647	G	A	100620647	4	1	81	1	0	0	0	0	0	1	0	0	9040	1328	46	2	247	2	LRRC39	1	100620647	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	95134	100620647	148629974	727	4343											
LRRC39	127495	broad.mit.edu	37	1	100633981	100633981	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:100633981C>T	ENST00000370138.1	-	3	290	c.92G>A	c.(91-93)cGa>cAa	p.R31Q	LRRC39_ENST00000342895.3_Missense_Mutation_p.R31Q|LRRC39_ENST00000370137.1_Missense_Mutation_p.R31Q	NM_001256385.1	NP_001243314.1	Q96DD0	LRC39_HUMAN	leucine rich repeat containing 39	31										endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(1)	13		all_epithelial(167;0.000542)|all_lung(203;0.0154)|Lung NSC(277;0.0155)		Epithelial(280;0.0826)|all cancers(265;0.135)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.195)		TTCCTTCTCTCGCTTCAGGTC	0.323													6	62					0	0	1	0	0	T	100633981	C	T	100633981	3	4	81	1	0	0	0	0	1	0	0	0	9040	884	31	1	947	1	LRRC39	1	100633981	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	13334	100633981	148616640	728	4344											
CDC14A	8556	broad.mit.edu	37	1	100889837	100889837	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:100889837delC	ENST00000370125.2	+	5	857	c.369delC	c.(367-369)aacfs	p.N123fs	CDC14A_ENST00000469387.1_3'UTR|CDC14A_ENST00000361544.6_Frame_Shift_Del_p.N123fs|CDC14A_ENST00000370124.3_Frame_Shift_Del_p.N123fs|CDC14A_ENST00000542213.1_Frame_Shift_Del_p.N65fs|CDC14A_ENST00000544534.1_Frame_Shift_Del_p.N123fs|CDC14A_ENST00000336454.3_Frame_Shift_Del_p.N123fs			Q9UNH5	CC14A_HUMAN	cell division cycle 14A	123	A.				cell cycle|cell division|cell proliferation	centrosome|nucleus|spindle	protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			breast(1)|endometrium(5)|kidney(6)|large_intestine(6)|lung(10)|skin(2)|urinary_tract(1)	31		all_epithelial(167;3.71e-06)|all_lung(203;0.00097)|Lung NSC(277;0.001)		Epithelial(280;0.0676)|all cancers(265;0.127)|COAD - Colon adenocarcinoma(174;0.201)|Lung(183;0.227)|Colorectal(144;0.241)		CTGGCTCAAACCCCCCCTATC	0.403													7	142	---	---	---	---						-	100889837	C	-	100889837	7	5	81	1	0	1	0	1	0	0	0	0	3078	506	18	0	387	0	CDC14A	1	100889837	Frame_Shift_Del	DEL	C	TCGA-DU-6392-01A-11D-1705-08	255856	100889837	148360784	729	4345											
CDC14A	8556	broad.mit.edu	37	1	100908489	100908489	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:100908489G>T	ENST00000370125.2	+	7	944		c.e7-1		CDC14A_ENST00000469387.1_Splice_Site|CDC14A_ENST00000361544.6_Splice_Site|CDC14A_ENST00000542213.1_Splice_Site|CDC14A_ENST00000544534.1_Splice_Site|CDC14A_ENST00000336454.3_Splice_Site|CDC14A_ENST00000370124.3_Splice_Site			Q9UNH5	CC14A_HUMAN	cell division cycle 14A						cell cycle|cell division|cell proliferation	centrosome|nucleus|spindle	protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			breast(1)|endometrium(5)|kidney(6)|large_intestine(6)|lung(10)|skin(2)|urinary_tract(1)	31		all_epithelial(167;3.71e-06)|all_lung(203;0.00097)|Lung NSC(277;0.001)		Epithelial(280;0.0676)|all cancers(265;0.127)|COAD - Colon adenocarcinoma(174;0.201)|Lung(183;0.227)|Colorectal(144;0.241)		TCTGCTTTTAGGGATTACAAC	0.289													5	85					3.59834e-05	3.99423e-05	1	1	0	T	100908489	G	T	100908489	5	4	81	1	0	0	0	0	0	0	1	0	3078	1014	35	4	482	4	CDC14A	1	100908489	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	18652	100908489	148342132	730	4346											
CDC14A	8556	broad.mit.edu	37	1	100963754	100963754	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:100963754C>T	ENST00000336454.3	+	14	1767	c.1412C>T	c.(1411-1413)aCt>aTt	p.T471I	CDC14A_ENST00000361544.6_Missense_Mutation_p.T471I|CDC14A_ENST00000542213.1_Missense_Mutation_p.T413I|CDC14A_ENST00000544534.1_Missense_Mutation_p.T471I|CDC14A_ENST00000370125.2_3'UTR	NM_003672.3	NP_003663.2	Q9UNH5	CC14A_HUMAN	cell division cycle 14A	471					cell cycle|cell division|cell proliferation	centrosome|nucleus|spindle	protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			breast(1)|endometrium(5)|kidney(6)|large_intestine(6)|lung(10)|skin(2)|urinary_tract(1)	31		all_epithelial(167;3.71e-06)|all_lung(203;0.00097)|Lung NSC(277;0.001)		Epithelial(280;0.0676)|all cancers(265;0.127)|COAD - Colon adenocarcinoma(174;0.201)|Lung(183;0.227)|Colorectal(144;0.241)		TCGGGTGCCACTGTAAGAAGG	0.468													57	129					0	0	1	0	0	T	100963754	C	T	100963754	3	4	81	1	0	0	0	0	1	0	0	0	3078	565	20	2	1481	2	CDC14A	1	100963754	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	55265	100963754	148286867	731	4347											
GPR88	54112	broad.mit.edu	37	1	101005515	101005515	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:101005515C>T	ENST00000315033.4	+	2	1432	c.993C>T	c.(991-993)ctC>ctT	p.L331L		NM_022049.2	NP_071332.2	Q9GZN0	GPR88_HUMAN	G protein-coupled receptor 88	331						integral to membrane|plasma membrane	G-protein coupled receptor activity			large_intestine(2)|skin(1)	3		all_epithelial(167;1.19e-05)|all_lung(203;0.00159)|Lung NSC(277;0.00171)		Epithelial(280;0.0372)|all cancers(265;0.0558)|COAD - Colon adenocarcinoma(174;0.141)|Colorectal(144;0.156)|Lung(183;0.189)		TGTCCGCGCTCAATCCGCTGC	0.726													8	13					0	0	1	0	0	T	101005515	C	T	101005515	2	4	81	1	0	0	0	0	0	0	0	1	6757	813	29	2		2	GPR88	1	101005515	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	41761	101005515	148245106	732	4348											
VCAM1	7412	broad.mit.edu	37	1	101186146	101186146	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:101186146G>A	ENST00000294728.2	+	2	280	c.179G>A	c.(178-180)aGa>aAa	p.R60K	VCAM1_ENST00000347652.2_Missense_Mutation_p.R60K|VCAM1_ENST00000370119.4_Intron|VCAM1_ENST00000370115.1_Missense_Mutation_p.R60K	NM_001078.3	NP_001069.1	P19320	VCAM1_HUMAN	vascular cell adhesion molecule 1	60	Ig-like C2-type 1.				heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome	cell adhesion molecule binding|integrin binding	p.R60K(1)		central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	TTCTCTTGGAGAACCCAGATA	0.478													28	69					0	0	1	0	0	A	101186146	G	A	101186146	3	1	81	1	0	0	0	0	1	0	0	0	17197	942	33	2	185	2	VCAM1	1	101186146	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	180631	101186146	148064475	733	4349											
DPH5	51611	broad.mit.edu	37	1	101458213	101458213	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:101458213C>A	ENST00000370109.3	-	7	726	c.614G>T	c.(613-615)aGa>aTa	p.R205I	DPH5_ENST00000427040.2_Intron|DPH5_ENST00000370105.3_5'UTR|DPH5_ENST00000342173.7_Missense_Mutation_p.R205I|DPH5_ENST00000488176.1_Missense_Mutation_p.R205I	NM_001077394.1|NM_001077395.1|NM_015958.2	NP_001070862.1|NP_001070863.1|NP_057042.2	Q9H2P9	DPH5_HUMAN	diphthamide biosynthesis 5	205					peptidyl-diphthamide biosynthetic process from peptidyl-histidine		diphthine synthase activity			endometrium(2)|large_intestine(1)|lung(4)	7		all_epithelial(167;3.1e-06)|all_lung(203;0.000414)|Lung NSC(277;0.000946)		Epithelial(280;0.0385)|all cancers(265;0.043)|COAD - Colon adenocarcinoma(174;0.151)|Colorectal(144;0.173)|Lung(183;0.198)		TCCTCGTATTCTTTGATTTTG	0.398													6	102					5.18039e-06	5.88187e-06	1	1	0	A	101458213	C	A	101458213	3	1	81	1	0	0	0	0	1	0	0	0	4749	913	32	4	251	4	DPH5	1	101458213	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	272067	101458213	147792408	734	4350											
OLFM3	118427	broad.mit.edu	37	1	102270305	102270305	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:102270305C>A	ENST00000370103.4	-	6	1079	c.866G>T	c.(865-867)aGt>aTt	p.S289I	OLFM3_ENST00000338858.5_Missense_Mutation_p.S309I|OLFM3_ENST00000536598.1_3'UTR|OLFM3_ENST00000462354.1_5'UTR	NM_058170.2	NP_477518.2	Q96PB7	NOE3_HUMAN	olfactomedin 3	309	Olfactomedin-like.					extracellular region				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(24)|ovary(3)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	43		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)		GATGATATTACTCTGATACTT	0.433													26	67					8.58068e-18	1.1094e-17	1	1	0	A	102270305	C	A	102270305	3	1	81	1	0	0	0	0	1	0	0	0	10902	565	20	4	514	4	OLFM3	1	102270305	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	812092	102270305	146980316	735	4351											
OLFM3	118427	broad.mit.edu	37	1	102302451	102302451	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:102302451C>T	ENST00000370103.4	-	2	413	c.200G>A	c.(199-201)cGc>cAc	p.R67H	OLFM3_ENST00000359814.3_Missense_Mutation_p.R87H|OLFM3_ENST00000338858.5_Missense_Mutation_p.R87H|OLFM3_ENST00000536598.1_5'UTR|OLFM3_ENST00000462354.1_5'UTR	NM_058170.2	NP_477518.2	Q96PB7	NOE3_HUMAN	olfactomedin 3	87						extracellular region		p.R67L(1)|p.R87L(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(24)|ovary(3)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	43		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)		CAGTAGTTGGCGAAGTTGCCT	0.458													29	75					0	0	1	0	0	T	102302451	C	T	102302451	3	4	81	1	0	0	0	0	1	0	0	0	10902	768	27	1	1196	1	OLFM3	1	102302451	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	32146	102302451	146948170	736	4352											
COL11A1	1301	broad.mit.edu	37	1	103412484	103412484	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:103412484C>T	ENST00000358392.2	-	42	3550	c.3233G>A	c.(3232-3234)gGt>gAt	p.G1078D	COL11A1_ENST00000370096.3_Missense_Mutation_p.G1066D|COL11A1_ENST00000353414.4_Missense_Mutation_p.G1027D|COL11A1_ENST00000512756.1_Missense_Mutation_p.G950D	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1066	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		GCCAGCTGTACCTGCTGACCC	0.463													10	25					0	0	1	0	0	T	103412484	C	T	103412484	3	4	81	1	0	0	0	0	1	0	0	0	3690	507	18	2	2327	2	COL11A1	1	103412484	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1110033	103412484	145838137	737	4353											
COL11A1	1301	broad.mit.edu	37	1	103431043	103431043	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:103431043C>A	ENST00000358392.2	-	38	3269	c.2952G>T	c.(2950-2952)caG>caT	p.Q984H	COL11A1_ENST00000370096.3_Splice_Site_p.Q972H|COL11A1_ENST00000353414.4_Splice_Site_p.Q933H|COL11A1_ENST00000512756.1_Splice_Site_p.Q856H	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	972	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		AGGAACATACCTGTGGTCCAA	0.378													16	264					2.23348e-06	2.55658e-06	1	1	0	A	103431043	C	A	103431043	5	1	81	1	0	0	0	0	0	0	1	0	3690	695	24	4	2624	4	COL11A1	1	103431043	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	18559	103431043	145819578	738	4354											
COL11A1	1301	broad.mit.edu	37	1	103471830	103471830	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:103471830T>A	ENST00000358392.2	-	16	2078	c.1761A>T	c.(1759-1761)aaA>aaT	p.K587N	COL11A1_ENST00000370096.3_Missense_Mutation_p.K575N|COL11A1_ENST00000353414.4_Missense_Mutation_p.K536N|COL11A1_ENST00000461720.1_5'UTR|COL11A1_ENST00000512756.1_Missense_Mutation_p.K459N	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	575	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TTTTTCCAGGTTTTCCCGTTG	0.338													5	95					0	0	1	0	0	A	103471830	T	A	103471830	3	1	81	1	0	0	0	0	1	0	0	0	3690	1722	60	5	3903	5	COL11A1	1	103471830	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	40787	103471830	145778791	739	4355											
COL11A1	1301	broad.mit.edu	37	1	103548440	103548440	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:103548440C>A	ENST00000358392.2	-	2	512	c.195G>T	c.(193-195)aaG>aaT	p.K65N	COL11A1_ENST00000370096.3_Missense_Mutation_p.K65N|COL11A1_ENST00000353414.4_Missense_Mutation_p.K65N|COL11A1_ENST00000512756.1_Missense_Mutation_p.K65N	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	65	TSP N-terminal.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		CTTTAGAATTCTTTCTGTTTG	0.358													33	140					2.52637e-11	3.12819e-11	1	1	0	A	103548440	C	A	103548440	3	1	81	1	0	0	0	0	1	0	0	0	3690	912	32	4	5646	4	COL11A1	1	103548440	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	76610	103548440	145702181	740	4356											
AMY2B	280	broad.mit.edu	37	1	104115752	104115752	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:104115752G>T	ENST00000361355.4	+	5	999	c.383G>T	c.(382-384)aGt>aTt	p.S128I	AMY2B_ENST00000491397.1_3'UTR	NM_020978.3	NP_066188.1	P19961	AMY2B_HUMAN	amylase, alpha 2B (pancreatic)	128					carbohydrate metabolic process|digestion	extracellular region	alpha-amylase activity|metal ion binding			breast(1)|endometrium(7)|kidney(4)|large_intestine(1)|lung(30)|prostate(1)|skin(1)|urinary_tract(1)	46		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112)		GGAACAAGCAGTACCTGTGGA	0.403													146	487					8.96501e-55	1.20769e-54	1	1	0	T	104115752	G	T	104115752	3	4	81	1	0	0	0	0	1	0	0	0	591	1029	36	4	393	4	AMY2B	1	104115752	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	567312	104115752	145134869	741	4357											
PRMT6	55170	broad.mit.edu	37	1	107599821	107599821	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:107599821C>A	ENST00000361318.5	+	1	555	c.307C>A	c.(307-309)Ctg>Atg	p.L103M	PRMT6_ENST00000370078.1_Missense_Mutation_p.L162M	NM_018137.2	NP_060607.2	Q96LA8	ANM6_HUMAN	protein arginine methyltransferase 6	162					base-excision repair|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone binding|histone methyltransferase activity (H2A-R3 specific)|histone methyltransferase activity (H3-R2 specific)|histone methyltransferase activity (H4-R3 specific)|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity			biliary_tract(1)|breast(2)|kidney(1)|large_intestine(4)|lung(5)|urinary_tract(1)	14		all_epithelial(167;0.000429)|all_lung(203;0.00122)|Lung NSC(277;0.00185)		Lung(183;0.0305)|Epithelial(280;0.0765)|Colorectal(144;0.0998)|all cancers(265;0.14)|LUSC - Lung squamous cell carcinoma(189;0.173)|BRCA - Breast invasive adenocarcinoma(282;0.242)		CTACGGACTCCTGCACGAGTC	0.652													23	65					6.44725e-10	7.84582e-10	1	1	0	A	107599821	C	A	107599821	3	1	81	1	0	0	0	0	1	0	0	0	12592	680	24	4	486	4	PRMT6	1	107599821	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3484069	107599821	141650800	742	4358											
VAV3	10451	broad.mit.edu	37	1	108116774	108116774	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:108116774G>T	ENST00000370056.4	-	26	2671	c.2397C>A	c.(2395-2397)ttC>ttA	p.F799L	VAV3_ENST00000544443.1_Missense_Mutation_p.F203L|VAV3_ENST00000343258.4_5'UTR|VAV3_ENST00000415432.2_Missense_Mutation_p.F239L|VAV3_ENST00000527011.1_Missense_Mutation_p.F827L	NM_006113.4	NP_006104.4	Q9UKW4	VAV3_HUMAN	vav 3 guanine nucleotide exchange factor	799	SH3 2.				angiogenesis|apoptosis|B cell receptor signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity			NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1)	58		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)		CTCTTGCACAGAAGTCATACC	0.428													13	141					1.05317e-09	1.27674e-09	1	1	0	T	108116774	G	T	108116774	3	4	81	1	0	0	0	0	1	0	0	0	17193	933	33	4	154	4	VAV3	1	108116774	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	516953	108116774	141133847	743	4359											
VAV3	10451	broad.mit.edu	37	1	108319905	108319905	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:108319905C>A	ENST00000370056.4	-	4	668	c.394G>T	c.(394-396)Gaa>Taa	p.E132*	VAV3_ENST00000343258.4_5'UTR|VAV3_ENST00000371846.4_Nonsense_Mutation_p.E67*|VAV3_ENST00000527011.1_Nonsense_Mutation_p.E132*	NM_006113.4	NP_006104.4	Q9UKW4	VAV3_HUMAN	vav 3 guanine nucleotide exchange factor	132					angiogenesis|apoptosis|B cell receptor signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity			NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1)	58		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)		ATGCTTTCTTCTGTTGGGAAG	0.378													17	46					2.37509e-13	2.99406e-13	1	1	0	A	108319905	C	A	108319905	4	1	81	1	0	0	0	0	0	1	0	0	17193	922	32	4	2270	4	VAV3	1	108319905	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	203131	108319905	140930716	744	4360											
SLC25A24	29957	broad.mit.edu	37	1	108700209	108700209	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:108700209C>A	ENST00000565488.1	-	5	763	c.544G>T	c.(544-546)Gat>Tat	p.D182Y	SLC25A24_ENST00000370041.4_Missense_Mutation_p.D163Y	NM_013386.4	NP_037518.3	Q6NUK1	SCMC1_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 24	182					transmembrane transport	integral to membrane|mitochondrial inner membrane	calcium ion binding			endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	16		all_epithelial(167;3.72e-05)|all_lung(203;0.000567)|Lung NSC(277;0.0011)|Melanoma(281;0.211)		Colorectal(144;0.0345)|Lung(183;0.0971)|COAD - Colon adenocarcinoma(174;0.127)|Epithelial(280;0.134)		GTGAATTCATCTGGAATAGTT	0.428													8	154					0.000274275	0.000297259	1	1	0	A	108700209	C	A	108700209	3	1	81	1	0	0	0	0	1	0	0	0	14542	913	32	4	913	4	SLC25A24	1	108700209	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	380304	108700209	140550412	745	4361											
PRPF38B	55119	broad.mit.edu	37	1	109241947	109241947	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:109241947C>T	ENST00000370021.1	+	7	1250	c.613C>T	c.(613-615)Cga>Tga	p.R205*	PRPF38B_ENST00000370025.4_Nonsense_Mutation_p.R316*			Q5VTL8	PR38B_HUMAN	pre-mRNA processing factor 38B	316					mRNA processing|RNA splicing	spliceosomal complex				NS(1)|kidney(3)|large_intestine(5)|lung(8)|prostate(1)|skin(1)	19		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0149)|Lung(183;0.0888)|COAD - Colon adenocarcinoma(174;0.113)|Epithelial(280;0.161)		GAAAGAACGGCGAAGATCCCG	0.512													6	108					0	0	1	0	0	T	109241947	C	T	109241947	4	4	81	1	0	0	0	0	0	1	0	0	12620	760	27	1	968	1	PRPF38B	1	109241947	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	541738	109241947	140008674	746	4362											
STXBP3	6814	broad.mit.edu	37	1	109351454	109351454	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:109351454G>A	ENST00000370008.3	+	19	1784	c.1734G>A	c.(1732-1734)atG>atA	p.M578I		NM_007269.2	NP_009200.2	O00186	STXB3_HUMAN	syntaxin binding protein 3	578					negative regulation of calcium ion-dependent exocytosis|neutrophil degranulation|platelet aggregation|protein transport|vesicle docking involved in exocytosis	cytosol|nucleus|platelet alpha granule|specific granule|tertiary granule	syntaxin-2 binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(3)|urinary_tract(1)	13		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0386)|Lung(183;0.104)|COAD - Colon adenocarcinoma(174;0.137)|Epithelial(280;0.231)		ATATAAAGATGCTGAATAAAC	0.323													78	216					0	0	1	0	0	A	109351454	G	A	109351454	3	1	81	1	0	0	0	0	1	0	0	0	15410	1319	46	2	1808	2	STXBP3	1	109351454	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	109507	109351454	139899167	747	4363											
AKNAD1	254268	broad.mit.edu	37	1	109359770	109359770	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:109359770C>A	ENST00000370001.3	-	15	2547	c.2279G>T	c.(2278-2280)aGc>aTc	p.S760I	AKNAD1_ENST00000477908.1_5'UTR	NM_152763.4	NP_689976.2	Q5T1N1	AKND1_HUMAN	AKNA domain containing 1	760										breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2)	32						AGGGTCTGAGCTGTAGGTCAT	0.453													5	52					0.217242	0.218703	1	1	0	A	109359770	C	A	109359770	3	1	81	1	0	0	0	0	1	0	0	0	461	797	28	4	239	4	AKNAD1	1	109359770	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	8316	109359770	139890851	748	4364											
AKNAD1	254268	broad.mit.edu	37	1	109366029	109366029	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:109366029C>T	ENST00000370001.3	-	13	2398	c.2130G>A	c.(2128-2130)caG>caA	p.Q710Q	AKNAD1_ENST00000357393.4_Silent_p.Q417Q|AKNAD1_ENST00000369995.3_Silent_p.Q710Q|AKNAD1_ENST00000369994.1_Silent_p.Q680Q	NM_152763.4	NP_689976.2	Q5T1N1	AKND1_HUMAN	AKNA domain containing 1	710										breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2)	32						AAGAATGGGGCTGGACAAAGG	0.383													36	112					0	0	1	0	0	T	109366029	C	T	109366029	2	4	81	1	0	0	0	0	0	0	0	1	461	796	28	2		2	AKNAD1	1	109366029	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	6259	109366029	139884592	749	4365											
AKNAD1	254268	broad.mit.edu	37	1	109392171	109392171	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:109392171C>T	ENST00000370001.3	-	3	1289	c.1021G>A	c.(1021-1023)Gaa>Aaa	p.E341K	AKNAD1_ENST00000357393.4_Missense_Mutation_p.E48K|AKNAD1_ENST00000369995.3_Missense_Mutation_p.E341K|AKNAD1_ENST00000369994.1_Missense_Mutation_p.E341K	NM_152763.4	NP_689976.2	Q5T1N1	AKND1_HUMAN	AKNA domain containing 1	341										breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2)	32						GTGAGAAGTTCTTGGTGGATA	0.383													75	66					0	0	1	0	0	T	109392171	C	T	109392171	3	4	81	1	0	0	0	0	1	0	0	0	461	922	32	2	1545	2	AKNAD1	1	109392171	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	26142	109392171	139858450	750	4366											
AKNAD1	254268	broad.mit.edu	37	1	109394328	109394328	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:109394328T>C	ENST00000370001.3	-	2	1227	c.959A>G	c.(958-960)aAa>aGa	p.K320R	AKNAD1_ENST00000357393.4_Intron|AKNAD1_ENST00000369995.3_Missense_Mutation_p.K320R|AKNAD1_ENST00000369994.1_Missense_Mutation_p.K320R	NM_152763.4	NP_689976.2	Q5T1N1	AKND1_HUMAN	AKNA domain containing 1	320										breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2)	32						GATTTTCCCTTTCTGCTCTTG	0.408													20	324					0	0	1	0	0	C	109394328	T	C	109394328	3	2	81	1	0	0	0	0	1	0	0	0	461	1841	64	3	1611	3	AKNAD1	1	109394328	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	2157	109394328	139856293	751	4367											
AKNAD1	254268	broad.mit.edu	37	1	109394579	109394579	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:109394579C>A	ENST00000370001.3	-	2	976	c.708G>T	c.(706-708)caG>caT	p.Q236H	AKNAD1_ENST00000357393.4_Intron|AKNAD1_ENST00000369995.3_Missense_Mutation_p.Q236H|AKNAD1_ENST00000369994.1_Missense_Mutation_p.Q236H	NM_152763.4	NP_689976.2	Q5T1N1	AKND1_HUMAN	AKNA domain containing 1	236										breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2)	32						TTTCAGTCTGCTGTTTCTGGG	0.418													15	206					3.45872e-05	3.85959e-05	1	1	0	A	109394579	C	A	109394579	3	1	81	1	0	0	0	0	1	0	0	0	461	796	28	4	1862	4	AKNAD1	1	109394579	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	251	109394579	139856042	752	4368											
AKNAD1	254268	broad.mit.edu	37	1	109395048	109395048	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:109395048G>T	ENST00000370001.3	-	2	507	c.239C>A	c.(238-240)gCt>gAt	p.A80D	AKNAD1_ENST00000357393.4_Intron|AKNAD1_ENST00000369995.3_Missense_Mutation_p.A80D|AKNAD1_ENST00000369994.1_Missense_Mutation_p.A80D	NM_152763.4	NP_689976.2	Q5T1N1	AKND1_HUMAN	AKNA domain containing 1	80										breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2)	32						TTTGTTGGCAGCATTTTCAGT	0.393													8	189					0.0581538	0.0592525	1	1	0	T	109395048	G	T	109395048	3	4	81	1	0	0	0	0	1	0	0	0	461	971	34	4	2331	4	AKNAD1	1	109395048	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	469	109395048	139855573	753	4369											
GPSM2	29899	broad.mit.edu	37	1	109445823	109445823	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:109445823T>A	ENST00000406462.2	+	10	1802	c.1029T>A	c.(1027-1029)caT>caA	p.H343Q	AKNAD1_ENST00000357393.4_Intron|GPSM2_ENST00000264126.3_Missense_Mutation_p.H343Q			P81274	GPSM2_HUMAN	G-protein signaling modulator 2						G-protein coupled receptor protein signaling pathway	cell cortex|nucleus	GTPase activator activity|identical protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)	14		all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)		Colorectal(144;0.0353)|Lung(183;0.0984)|COAD - Colon adenocarcinoma(174;0.129)|Epithelial(280;0.175)|all cancers(265;0.209)		AAGCAATGCATTTTGCTGAAA	0.373													42	27					0	0	1	0	0	A	109445823	T	A	109445823	3	1	81	1	0	0	0	0	1	0	0	0	6776	1490	52	4	1059	4	GPSM2	1	109445823	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	50775	109445823	139804798	754	4370											
WDR47	22911	broad.mit.edu	37	1	109538268	109538268	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:109538268G>T	ENST00000357672.3	-	7	1916	c.1541C>A	c.(1540-1542)aCt>aAt	p.T514N	WDR47_ENST00000369962.3_Missense_Mutation_p.T542N|WDR47_ENST00000369965.4_Missense_Mutation_p.T543N|WDR47_ENST00000361054.3_Missense_Mutation_p.T514N|WDR47_ENST00000400794.3_Missense_Mutation_p.T550N			O94967	WDR47_HUMAN	WD repeat domain 47	542										breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20		all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822)		Colorectal(144;0.0165)|Lung(183;0.0484)|COAD - Colon adenocarcinoma(174;0.128)|Epithelial(280;0.168)|all cancers(265;0.201)|LUSC - Lung squamous cell carcinoma(189;0.244)		ATTACGAGGAGTGCTTGTATG	0.388													18	382					7.45023e-12	9.27121e-12	1	1	0	T	109538268	G	T	109538268	3	4	81	1	0	0	0	0	1	0	0	0	17360	1029	36	4	1166	4	WDR47	1	109538268	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	92445	109538268	139712353	755	4371											
WDR47	22911	broad.mit.edu	37	1	109554001	109554001	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:109554001T>A	ENST00000357672.3	-	4	958	c.583A>T	c.(583-585)Agc>Tgc	p.S195C	WDR47_ENST00000369962.3_Missense_Mutation_p.S223C|WDR47_ENST00000369965.4_Missense_Mutation_p.S223C|WDR47_ENST00000361054.3_Missense_Mutation_p.S195C|WDR47_ENST00000400794.3_Missense_Mutation_p.S230C			O94967	WDR47_HUMAN	WD repeat domain 47	223										breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20		all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822)		Colorectal(144;0.0165)|Lung(183;0.0484)|COAD - Colon adenocarcinoma(174;0.128)|Epithelial(280;0.168)|all cancers(265;0.201)|LUSC - Lung squamous cell carcinoma(189;0.244)		AGCACTTCGCTTTCTGTAATT	0.383													17	317					0	0	1	0	0	A	109554001	T	A	109554001	3	1	81	1	0	0	0	0	1	0	0	0	17360	1609	56	5	2139	5	WDR47	1	109554001	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	15733	109554001	139696620	756	4372											
KIAA1324	57535	broad.mit.edu	37	1	109707189	109707189	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:109707189C>T	ENST00000369939.3	+	3	526	c.343C>T	c.(343-345)Cgc>Tgc	p.R115C	KIAA1324_ENST00000529753.1_Missense_Mutation_p.R115C	NM_020775.4	NP_065826	Q6UXG2	K1324_HUMAN	KIAA1324	115					macroautophagy|positive regulation of vacuole organization|regulation of apoptosis	integral to plasma membrane				NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063)		Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249)		CGCTGAGGGCCGCTACTCCCT	0.587													8	114					0	0	1	0	0	T	109707189	C	T	109707189	3	4	81	1	0	0	0	0	1	0	0	0	8265	652	23	1	353	1	KIAA1324	1	109707189	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	153188	109707189	139543432	757	4373											
KIAA1324	57535	broad.mit.edu	37	1	109707210	109707210	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:109707210A>G	ENST00000369939.3	+	3	547	c.364A>G	c.(364-366)Att>Gtt	p.I122V	KIAA1324_ENST00000529753.1_Missense_Mutation_p.I122V	NM_020775.4	NP_065826	Q6UXG2	K1324_HUMAN	KIAA1324	122					macroautophagy|positive regulation of vacuole organization|regulation of apoptosis	integral to plasma membrane				NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063)		Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249)		CGGCACAGGCATTCGGTTTGA	0.577													21	77					0	0	1	0	0	G	109707210	A	G	109707210	3	3	81	1	0	0	0	0	1	0	0	0	8265	217	8	3	374	3	KIAA1324	1	109707210	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	21	109707210	139543411	758	4374											
KIAA1324	57535	broad.mit.edu	37	1	109714636	109714636	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:109714636G>A	ENST00000369939.3	+	4	798		c.e4+1		KIAA1324_ENST00000529753.1_Splice_Site	NM_020775.4	NP_065826	Q6UXG2	K1324_HUMAN	KIAA1324						macroautophagy|positive regulation of vacuole organization|regulation of apoptosis	integral to plasma membrane				NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063)		Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249)		TGAGTTTTTCGTAAGCCCCTG	0.507													40	107					0	0	1	0	0	A	109714636	G	A	109714636	5	1	81	1	0	0	0	0	0	0	1	0	8265	1159	40	1	630	1	KIAA1324	1	109714636	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	7426	109714636	139535985	759	4375											
KIAA1324	57535	broad.mit.edu	37	1	109740233	109740233	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:109740233C>A	ENST00000369939.3	+	16	2442	c.2259C>A	c.(2257-2259)gcC>gcA	p.A753A	KIAA1324_ENST00000369938.1_3'UTR|KIAA1324_ENST00000529753.1_Silent_p.A666A	NM_020775.4	NP_065826	Q6UXG2	K1324_HUMAN	KIAA1324	753					macroautophagy|positive regulation of vacuole organization|regulation of apoptosis	integral to plasma membrane				NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063)		Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249)		GCTACAAGGCCGGGGTTTCCT	0.552													10	34					4.68919e-08	5.54405e-08	1	1	0	A	109740233	C	A	109740233	2	1	81	1	0	0	0	0	0	0	0	1	8265	639	23	5		5	KIAA1324	1	109740233	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	25597	109740233	139510388	760	4376											
SARS	6301	broad.mit.edu	37	1	109778673	109778673	+	Silent	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:109778673A>T	ENST00000369923.4	+	8	1055	c.1044A>T	c.(1042-1044)gcA>gcT	p.A348A	SARS_ENST00000234677.2_Silent_p.A348A			P49591	SYSC_HUMAN	seryl-tRNA synthetase	348					seryl-tRNA aminoacylation|tRNA processing	cytosol	ATP binding|protein binding|RNA binding|serine-tRNA ligase activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	17		all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0301)|Lung(183;0.0677)|COAD - Colon adenocarcinoma(174;0.116)|Epithelial(280;0.233)	L-Serine(DB00133)	TTACCACCGCAGAGGAGTTCT	0.493													38	68					0	0	1	0	0	T	109778673	A	T	109778673	2	4	81	1	0	0	0	0	0	0	0	1	13897	175	7	5		5	SARS	1	109778673	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	38440	109778673	139471948	761	4377											
CELSR2	1952	broad.mit.edu	37	1	109793483	109793483	+	Missense_Mutation	SNP	C	C	T	rs41279702		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:109793483C>T	ENST00000271332.3	+	1	843	c.782C>T	c.(781-783)gCg>gTg	p.A261V		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	261	Cadherin 1.				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		AGGGTCACGGCGCAGGACCAC	0.587													33	22					0	0	1	0	0	T	109793483	C	T	109793483	3	4	81	1	0	0	0	0	1	0	0	0	3244	768	27	1	784	1	CELSR2	1	109793483	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	14810	109793483	139457138	762	4378											
CELSR2	1952	broad.mit.edu	37	1	109794054	109794054	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:109794054C>T	ENST00000271332.3	+	1	1414	c.1353C>T	c.(1351-1353)gcC>gcT	p.A451A		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	451	Cadherin 3.				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		ATCTGGATGCCCAGACTGGAG	0.572													91	169					0	0	1	0	0	T	109794054	C	T	109794054	2	4	81	1	0	0	0	0	0	0	0	1	3244	610	22	2		2	CELSR2	1	109794054	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	571	109794054	139456567	763	4379											
CELSR2	1952	broad.mit.edu	37	1	109794125	109794125	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:109794125G>A	ENST00000271332.3	+	1	1485	c.1424G>A	c.(1423-1425)cGa>cAa	p.R475Q		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	475	Cadherin 3.				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		CTACGGGTGCGAGCACAGGAT	0.557													28	279					0	0	1	0	0	A	109794125	G	A	109794125	3	1	81	1	0	0	0	0	1	0	0	0	3244	1058	37	1	1426	1	CELSR2	1	109794125	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	71	109794125	139456496	764	4380											
CELSR2	1952	broad.mit.edu	37	1	109795063	109795063	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:109795063C>T	ENST00000271332.3	+	1	2423	c.2362C>T	c.(2362-2364)Cgg>Tgg	p.R788W		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	788	Cadherin 6.				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		CATTACTGCTCGGGACAATGG	0.572													24	38					0	0	1	0	0	T	109795063	C	T	109795063	3	4	81	1	0	0	0	0	1	0	0	0	3244	875	31	1	2364	1	CELSR2	1	109795063	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	938	109795063	139455558	765	4381											
CELSR2	1952	broad.mit.edu	37	1	109795318	109795318	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:109795318G>A	ENST00000271332.3	+	1	2678	c.2617G>A	c.(2617-2619)Gtg>Atg	p.V873M		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	873	Cadherin 7.				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		GTCAGGCATCGTGCGAACGCT	0.562													48	37					0	0	1	0	0	A	109795318	G	A	109795318	3	1	81	1	0	0	0	0	1	0	0	0	3244	1145	40	1	2619	1	CELSR2	1	109795318	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	255	109795318	139455303	766	4382											
CELSR2	1952	broad.mit.edu	37	1	109795676	109795676	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:109795676A>G	ENST00000271332.3	+	1	3036	c.2975A>G	c.(2974-2976)tAc>tGc	p.Y992C		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	992	Cadherin 8.				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		CGGCCTGAGTACGTCCTGGTC	0.602													22	59					0	0	1	0	0	G	109795676	A	G	109795676	3	3	81	1	0	0	0	0	1	0	0	0	3244	391	14	3	2977	3	CELSR2	1	109795676	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	358	109795676	139454945	767	4383											
CELSR2	1952	broad.mit.edu	37	1	109795908	109795908	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:109795908A>G	ENST00000271332.3	+	1	3268	c.3207A>G	c.(3205-3207)gaA>gaG	p.E1069E		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	1069	Cadherin 9.				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		GGGGAAATGAACTCAGCCTGG	0.577													15	49					0	0	1	0	0	G	109795908	A	G	109795908	2	3	81	1	0	0	0	0	0	0	0	1	3244	40	2	3		3	CELSR2	1	109795908	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	232	109795908	139454713	768	4384											
CELSR2	1952	broad.mit.edu	37	1	109803708	109803708	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:109803708G>T	ENST00000271332.3	+	3	4064	c.4003G>T	c.(4003-4005)Ggt>Tgt	p.G1335C		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	1335	EGF-like 3; calcium-binding.				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		TTGCACCCCGGGTGTCTGCAA	0.592													20	84					2.21704e-12	2.77053e-12	1	1	0	T	109803708	G	T	109803708	3	4	81	1	0	0	0	0	1	0	0	0	3244	1232	43	5	4013	5	CELSR2	1	109803708	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	7800	109803708	139446913	769	4385											
CELSR2	1952	broad.mit.edu	37	1	109804139	109804139	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:109804139G>A	ENST00000271332.3	+	4	4247	c.4186G>A	c.(4186-4188)Gcc>Acc	p.A1396T		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	1396	Laminin G-like 1.				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		GTTCAGGTTTGCCACAAAGGA	0.602													37	93					0	0	1	0	0	A	109804139	G	A	109804139	3	1	81	1	0	0	0	0	1	0	0	0	3244	1319	46	2	4200	2	CELSR2	1	109804139	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	431	109804139	139446482	770	4386											
CELSR2	1952	broad.mit.edu	37	1	109812366	109812366	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:109812366G>A	ENST00000271332.3	+	22	7092	c.7031G>A	c.(7030-7032)cGc>cAc	p.R2344H		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	2344	GPS.				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		GTCGTCTTCCGCAATGAGAGC	0.632													76	61					0	0	1	0	0	A	109812366	G	A	109812366	3	1	81	1	0	0	0	0	1	0	0	0	3244	1087	38	1	7117	1	CELSR2	1	109812366	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	8227	109812366	139438255	771	4387											
PSRC1	84722	broad.mit.edu	37	1	109823528	109823528	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:109823528G>A	ENST00000438534.2	-	5	1003	c.865C>T	c.(865-867)Cga>Tga	p.R289*	PSRC1_ENST00000369909.2_Nonsense_Mutation_p.R259*|PSRC1_ENST00000409138.2_Nonsense_Mutation_p.R289*|PSRC1_ENST00000409267.1_Nonsense_Mutation_p.R259*|PSRC1_ENST00000369904.3_Missense_Mutation_p.P225L|PSRC1_ENST00000369907.3_Nonsense_Mutation_p.R259*|PSRC1_ENST00000369903.2_Nonsense_Mutation_p.R259*	NM_001005290.3	NP_001005290.1	Q6PGN9	PSRC1_HUMAN	proline/serine-rich coiled-coil 1	289	Pro/Ser-rich.				cell division|microtubule bundle formation|mitotic metaphase plate congression|negative regulation of cell growth|positive regulation of microtubule polymerization|positive regulation of transcription, DNA-dependent|regulation of mitotic spindle organization	cytosol|midbody|spindle pole	microtubule binding			endometrium(1)|large_intestine(1)|lung(2)|prostate(2)|skin(1)	7		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0286)|Lung(183;0.0658)|COAD - Colon adenocarcinoma(174;0.112)|Epithelial(280;0.188)|all cancers(265;0.213)		AGTGGCATTCGGCTGGCAGGC	0.612													38	22					0	0	1	0	0	A	109823528	G	A	109823528	4	1	81	1	0	0	0	0	0	1	0	0	12768	1125	39	1	270	1	PSRC1	1	109823528	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	11162	109823528	139427093	772	4388											
PSRC1	84722	broad.mit.edu	37	1	109824315	109824315	+	Missense_Mutation	SNP	G	G	A	rs116061288	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:109824315G>A	ENST00000438534.2	-	4	583	c.445C>T	c.(445-447)Cgg>Tgg	p.R149W	PSRC1_ENST00000369909.2_Missense_Mutation_p.R149W|PSRC1_ENST00000409138.2_Missense_Mutation_p.R149W|PSRC1_ENST00000409267.1_Missense_Mutation_p.R149W|PSRC1_ENST00000369904.3_Missense_Mutation_p.R149W|PSRC1_ENST00000369907.3_Missense_Mutation_p.R149W|PSRC1_ENST00000369903.2_Missense_Mutation_p.R149W	NM_001005290.3	NP_001005290.1	Q6PGN9	PSRC1_HUMAN	proline/serine-rich coiled-coil 1	149	4 X 4 AA repeats of P-X-X-P.				cell division|microtubule bundle formation|mitotic metaphase plate congression|negative regulation of cell growth|positive regulation of microtubule polymerization|positive regulation of transcription, DNA-dependent|regulation of mitotic spindle organization	cytosol|midbody|spindle pole	microtubule binding			endometrium(1)|large_intestine(1)|lung(2)|prostate(2)|skin(1)	7		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0286)|Lung(183;0.0658)|COAD - Colon adenocarcinoma(174;0.112)|Epithelial(280;0.188)|all cancers(265;0.213)		TCATTACTCCGGAGTCGAGGC	0.577													27	109					0	0	1	0	0	A	109824315	G	A	109824315	3	1	81	1	0	0	0	0	1	0	0	0	12768	1115	39	1	637	1	PSRC1	1	109824315	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	787	109824315	139426306	773	4389											
MYBPHL	343263	broad.mit.edu	37	1	109838869	109838869	+	Missense_Mutation	SNP	C	C	T	rs143483325		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:109838869C>T	ENST00000357155.1	-	6	903	c.854G>A	c.(853-855)cGc>cAc	p.R285H	MYBPHL_ENST00000477962.1_Intron	NM_001010985.2|NM_001265613.1	NP_001010985.2|NP_001252542.1	A2RUH7	MBPHL_HUMAN	myosin binding protein H-like	285	Ig-like C2-type 2.									central_nervous_system(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(2)	14		all_lung(203;0.00519)|all_epithelial(167;0.00575)|Lung NSC(277;0.00822)		Colorectal(144;0.0306)|Lung(183;0.0681)|COAD - Colon adenocarcinoma(174;0.117)|Epithelial(280;0.197)|all cancers(265;0.225)		GGGAGAGGCGCGGACACAGCA	0.577													7	126					0	0	1	0	0	T	109838869	C	T	109838869	3	4	81	1	0	0	0	0	1	0	0	0	10063	768	27	1	222	1	MYBPHL	1	109838869	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	14554	109838869	139411752	774	4390											
SORT1	6272	broad.mit.edu	37	1	109870142	109870142	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:109870142C>T	ENST00000256637.6	-	12	1511	c.1453G>A	c.(1453-1455)Gta>Ata	p.V485I	SORT1_ENST00000538502.1_Missense_Mutation_p.V348I	NM_002959.5	NP_002950.3	Q99523	SORT_HUMAN	sortilin 1	485					endocytosis|endosome to lysosome transport|endosome transport via multivesicular body sorting pathway|glucose import|Golgi to endosome transport|induction of apoptosis by extracellular signals|myotube differentiation|negative regulation of apoptosis|negative regulation of lipoprotein lipase activity|neuropeptide signaling pathway|ossification|plasma membrane to endosome transport|regulation of gene expression|response to insulin stimulus|vesicle organization	cell surface|coated pit|early endosome|endoplasmic reticulum membrane|endosome membrane|Golgi cisterna membrane|integral to membrane|lysosomal membrane|microsome|nuclear membrane|perinuclear region of cytoplasm|plasma membrane	enzyme binding|nerve growth factor binding|nerve growth factor receptor activity|neurotensin receptor activity, non-G-protein coupled			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|prostate(1)|skin(1)	26		all_epithelial(167;4.69e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0529)|Colorectal(144;0.142)|Epithelial(280;0.145)|Kidney(133;0.169)|all cancers(265;0.184)		ACAATGCCTACGGCATTCGGC	0.498													17	49					0	0	1	0	0	T	109870142	C	T	109870142	3	4	81	1	0	0	0	0	1	0	0	0	14989	536	19	1	1078	1	SORT1	1	109870142	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	31273	109870142	139380479	775	4391											
SYPL2	284612	broad.mit.edu	37	1	110019486	110019486	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:110019486G>A	ENST00000369872.3	+	4	559	c.343G>A	c.(343-345)Gcc>Acc	p.A115T	SYPL2_ENST00000401021.3_Missense_Mutation_p.A115T	NM_001040709.1	NP_001035799.1	Q5VXT5	SYPL2_HUMAN	synaptophysin-like 2	115	MARVEL.					integral to membrane|synaptic vesicle	transporter activity			breast(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	16		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Colorectal(144;0.0129)|Lung(183;0.0436)|READ - Rectum adenocarcinoma(129;0.0698)|Epithelial(280;0.0808)|all cancers(265;0.0869)|LUSC - Lung squamous cell carcinoma(189;0.231)		CTCTGCACCCGCCGAGTTCTT	0.537													9	39					0	0	1	0	0	A	110019486	G	A	110019486	3	1	81	1	0	0	0	0	1	0	0	0	15520	1087	38	1	357	1	SYPL2	1	110019486	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	149344	110019486	139231135	776	4392											
ATXN7L2	127002	broad.mit.edu	37	1	110032686	110032686	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:110032686C>T	ENST00000369870.3	+	8	1187	c.1172C>T	c.(1171-1173)aCa>aTa	p.T391I		NM_153340.4	NP_699171.3	Q5T6C5	AT7L2_HUMAN	ataxin 7-like 2	391										breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)	17		all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453)		Colorectal(144;0.0129)|Lung(183;0.0426)|Epithelial(280;0.0675)|READ - Rectum adenocarcinoma(129;0.0693)|all cancers(265;0.071)|LUSC - Lung squamous cell carcinoma(189;0.228)		GAGGAGGGGACATCTGACGAC	0.672													5	96					0	0	1	0	0	T	110032686	C	T	110032686	3	4	81	1	0	0	0	0	1	0	0	0	1215	478	17	2	1202	2	ATXN7L2	1	110032686	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	13200	110032686	139217935	777	4393											
ATXN7L2	127002	broad.mit.edu	37	1	110032730	110032730	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:110032730C>T	ENST00000369870.3	+	8	1231	c.1216C>T	c.(1216-1218)Cgg>Tgg	p.R406W		NM_153340.4	NP_699171.3	Q5T6C5	AT7L2_HUMAN	ataxin 7-like 2	406										breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)	17		all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453)		Colorectal(144;0.0129)|Lung(183;0.0426)|Epithelial(280;0.0675)|READ - Rectum adenocarcinoma(129;0.0693)|all cancers(265;0.071)|LUSC - Lung squamous cell carcinoma(189;0.228)		TTATGCAACCCGGCCCCCACG	0.667													25	62					0	0	1	0	0	T	110032730	C	T	110032730	3	4	81	1	0	0	0	0	1	0	0	0	1215	643	23	1	1246	1	ATXN7L2	1	110032730	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	44	110032730	139217891	778	4394											
AMIGO1	57463	broad.mit.edu	37	1	110050173	110050173	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:110050173G>A	ENST00000369864.4	-	2	1711	c.1362C>T	c.(1360-1362)aaC>aaT	p.N454N	AMIGO1_ENST00000369862.1_Silent_p.N454N			Q86WK6	AMGO1_HUMAN	adhesion molecule with Ig-like domain 1	454				N -> S (in Ref. 4; AAH40879).	axonal fasciculation|heterophilic cell-cell adhesion|homophilic cell adhesion|myelination|positive regulation of axonogenesis	axon|integral to membrane				autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Colorectal(144;0.0129)|Lung(183;0.0182)|Epithelial(280;0.046)|all cancers(265;0.0492)|READ - Rectum adenocarcinoma(129;0.0689)|LUSC - Lung squamous cell carcinoma(189;0.227)		TGAGCTTGCCGTTTTGACCCT	0.592													27	67					0	0	1	0	0	A	110050173	G	A	110050173	2	1	81	1	0	0	0	0	0	0	0	1	571	1136	40	1		1	AMIGO1	1	110050173	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	17443	110050173	139200448	779	4395											
AMIGO1	57463	broad.mit.edu	37	1	110050380	110050380	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:110050380G>A	ENST00000369864.4	-	2	1504	c.1155C>T	c.(1153-1155)gtC>gtT	p.V385V	AMIGO1_ENST00000369862.1_Silent_p.V385V			Q86WK6	AMGO1_HUMAN	adhesion molecule with Ig-like domain 1	385					axonal fasciculation|heterophilic cell-cell adhesion|homophilic cell adhesion|myelination|positive regulation of axonogenesis	axon|integral to membrane				autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Colorectal(144;0.0129)|Lung(183;0.0182)|Epithelial(280;0.046)|all cancers(265;0.0492)|READ - Rectum adenocarcinoma(129;0.0689)|LUSC - Lung squamous cell carcinoma(189;0.227)		TGAGGACCAGGACCACACTAA	0.537													39	27					0	0	1	0	0	A	110050380	G	A	110050380	2	1	81	1	0	0	0	0	0	0	0	1	571	1161	41	2		2	AMIGO1	1	110050380	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	207	110050380	139200241	780	4396											
AMIGO1	57463	broad.mit.edu	37	1	110050768	110050768	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:110050768G>T	ENST00000369864.4	-	2	1116	c.767C>A	c.(766-768)tCc>tAc	p.S256Y	AMIGO1_ENST00000369862.1_Missense_Mutation_p.S256Y			Q86WK6	AMGO1_HUMAN	adhesion molecule with Ig-like domain 1	256	LRRCT.				axonal fasciculation|heterophilic cell-cell adhesion|homophilic cell adhesion|myelination|positive regulation of axonogenesis	axon|integral to membrane				autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Colorectal(144;0.0129)|Lung(183;0.0182)|Epithelial(280;0.046)|all cancers(265;0.0492)|READ - Rectum adenocarcinoma(129;0.0689)|LUSC - Lung squamous cell carcinoma(189;0.227)		CAGCTTCTTGGAGTTCATGCA	0.527													6	108					0.00116845	0.00124301	1	1	0	T	110050768	G	T	110050768	3	4	81	1	0	0	0	0	1	0	0	0	571	1174	41	5	718	5	AMIGO1	1	110050768	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	388	110050768	139199853	781	4397											
GPR61	83873	broad.mit.edu	37	1	110086628	110086628	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:110086628G>T	ENST00000527748.1	+	2	1667	c.984G>T	c.(982-984)tgG>tgT	p.W328C		NM_031936.4	NP_114142.3	Q9BZJ8	GPR61_HUMAN	G protein-coupled receptor 61	328						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1)	23		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0426)|Colorectal(144;0.11)|Epithelial(280;0.128)|all cancers(265;0.132)|LUSC - Lung squamous cell carcinoma(189;0.228)		TGGTCACCTGGATTGGCTACT	0.522													51	139					4.10029e-35	5.49048e-35	1	1	0	T	110086628	G	T	110086628	3	4	81	1	0	0	0	0	1	0	0	0	6742	1183	41	5	986	5	GPR61	1	110086628	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	35860	110086628	139163993	782	4398											
GPR61	83873	broad.mit.edu	37	1	110086836	110086836	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:110086836C>T	ENST00000527748.1	+	2	1875	c.1192C>T	c.(1192-1194)Cga>Tga	p.R398*		NM_031936.4	NP_114142.3	Q9BZJ8	GPR61_HUMAN	G protein-coupled receptor 61	398						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1)	23		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0426)|Colorectal(144;0.11)|Epithelial(280;0.128)|all cancers(265;0.132)|LUSC - Lung squamous cell carcinoma(189;0.228)		CTGGGTTTCCCGACCCCTACC	0.597													13	30					0	0	1	0	0	T	110086836	C	T	110086836	4	4	81	1	0	0	0	0	0	1	0	0	6742	644	23	1	1194	1	GPR61	1	110086836	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	208	110086836	139163785	783	4399											
AMPD2	271	broad.mit.edu	37	1	110169414	110169414	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:110169414T>C	ENST00000256578.3	+	6	1120	c.760T>C	c.(760-762)Tac>Cac	p.Y254H	AMPD2_ENST00000526301.1_3'UTR|AMPD2_ENST00000358729.4_Missense_Mutation_p.Y179H|AMPD2_ENST00000342115.4_Missense_Mutation_p.Y173H|AMPD2_ENST00000528454.1_Missense_Mutation_p.Y136H|AMPD2_ENST00000393688.3_Missense_Mutation_p.Y135H|AMPD2_ENST00000528667.1_Missense_Mutation_p.Y254H	NM_004037.7	NP_004028.3	Q01433	AMPD2_HUMAN	adenosine monophosphate deaminase 2	254					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			breast(1)|large_intestine(3)|ovary(2)|skin(1)	7		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.0425)|all cancers(265;0.0884)|Colorectal(144;0.109)|Epithelial(280;0.111)|LUSC - Lung squamous cell carcinoma(189;0.228)		CCGGGAGAAGTACATGGCCCT	0.612													22	74					0	0	1	0	0	C	110169414	T	C	110169414	3	2	81	1	0	0	0	0	1	0	0	0	582	1638	57	3	823	3	AMPD2	1	110169414	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	82578	110169414	139081207	784	4400											
GSTM5	2949	broad.mit.edu	37	1	110260004	110260004	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:110260004C>T	ENST00000369812.5	+	8	741	c.670C>T	c.(670-672)Cga>Tga	p.R224*	GSTM5_ENST00000256593.3_Nonsense_Mutation_p.R205*|GSTM5_ENST00000369813.1_3'UTR|GSTM5_ENST00000492718.1_3'UTR			P46439	GSTM5_HUMAN	glutathione S-transferase mu 5	205					xenobiotic metabolic process	endoplasmic reticulum membrane	glutathione transferase activity			NS(1)|central_nervous_system(6)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	21		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Colorectal(144;0.0131)|all cancers(265;0.0252)|Epithelial(280;0.0265)|Lung(183;0.0425)|COAD - Colon adenocarcinoma(174;0.0474)|LUSC - Lung squamous cell carcinoma(189;0.228)	Glutathione(DB00143)	CCAATTCCTCCGAGGTCTTTT	0.547													4	117					0	0	1	0	0	T	110260004	C	T	110260004	4	4	81	1	0	0	0	0	0	1	0	0	6882	644	23	1	643	1	GSTM5	1	110260004	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	90590	110260004	138990617	785	4401											
EPS8L3	79574	broad.mit.edu	37	1	110293362	110293362	+	Missense_Mutation	SNP	G	G	A	rs78041550		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:110293362G>A	ENST00000369805.3	-	18	1922	c.1693C>T	c.(1693-1695)Cct>Tct	p.P565S	EPS8L3_ENST00000361852.4_Missense_Mutation_p.P534S|EPS8L3_ENST00000361965.4_Missense_Mutation_p.P564S|RP4-735C1.4_ENST00000431955.1_RNA	NM_139053.2	NP_620641.1	Q8TE67	ES8L3_HUMAN	EPS8-like 3	564						cytoplasm	protein binding			breast(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	32		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)		Lung(183;0.0245)|Colorectal(144;0.0365)|all cancers(265;0.103)|Epithelial(280;0.109)|LUSC - Lung squamous cell carcinoma(189;0.137)|COAD - Colon adenocarcinoma(174;0.141)		AGCTCCCCAGGTCTTATGCGA	0.607													26	24					0	0	1	0	0	A	110293362	G	A	110293362	3	1	81	1	0	0	0	0	1	0	0	0	5225	1261	44	2	99	2	EPS8L3	1	110293362	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	33358	110293362	138957259	786	4402											
ALX3	257	broad.mit.edu	37	1	110607237	110607237	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:110607237C>T	ENST00000369792.4	-	2	653	c.566G>A	c.(565-567)cGc>cAc	p.R189H		NM_006492.2	NP_006483.2	O95076	ALX3_HUMAN	ALX homeobox 3	189						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6		all_cancers(81;2.35e-05)|all_epithelial(167;7.69e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.015)|all cancers(265;0.0706)|Epithelial(280;0.0758)|Colorectal(144;0.113)|LUSC - Lung squamous cell carcinoma(189;0.135)		CAGGTCTGTGCGCAGGGCCAG	0.592													8	33					0	0	1	0	0	T	110607237	C	T	110607237	3	4	81	1	0	0	0	0	1	0	0	0	553	768	27	1	477	1	ALX3	1	110607237	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	313875	110607237	138643384	787	4403											
UBL4B	164153	broad.mit.edu	37	1	110655424	110655424	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:110655424C>A	ENST00000334179.3	+	1	363	c.268C>A	c.(268-270)Ctg>Atg	p.L90M		NM_203412.1	NP_981957.1	Q8N7F7	UBL4B_HUMAN	ubiquitin-like 4B	90						cytoplasm				endometrium(1)|kidney(1)|large_intestine(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	7		all_cancers(81;1.14e-05)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0236)|all cancers(265;0.0823)|Epithelial(280;0.0917)|Colorectal(144;0.109)|LUSC - Lung squamous cell carcinoma(189;0.134)		GACCCAGCCCCTGTGGCACCA	0.592													9	89					2.27111e-07	2.65192e-07	1	1	0	A	110655424	C	A	110655424	3	1	81	1	0	0	0	0	1	0	0	0	16949	680	24	4	270	4	UBL4B	1	110655424	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	48187	110655424	138595197	788	4404											
SLC6A17	388662	broad.mit.edu	37	1	110717534	110717534	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:110717534G>A	ENST00000331565.4	+	5	1190	c.705G>A	c.(703-705)tgG>tgA	p.W235*		NM_001010898.2	NP_001010898.1	Q9H1V8	S6A17_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 17	235					alanine transport|glycine transport|leucine transport|proline transport	cell junction|integral to plasma membrane|synaptic vesicle membrane	neurotransmitter:sodium symporter activity			breast(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37		all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151)		TCGTGGCCTGGAGCATCGTGG	0.602													21	30					0	0	1	0	0	A	110717534	G	A	110717534	4	1	81	1	0	0	0	0	0	1	0	0	14735	1183	41	2	719	2	SLC6A17	1	110717534	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	62110	110717534	138533087	789	4405											
RBM15	64783	broad.mit.edu	37	1	110883957	110883957	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:110883957C>A	ENST00000369784.3	+	1	2830	c.1930C>A	c.(1930-1932)Ctg>Atg	p.L644M	RBM15_ENST00000487146.2_Missense_Mutation_p.L644M|RBM15_ENST00000602849.1_Missense_Mutation_p.L644M	NM_022768.4	NP_073605.4	Q96T37	RBM15_HUMAN	RNA binding motif protein 15	644	Arg-rich.				interspecies interaction between organisms	nucleus	nucleotide binding|protein binding|RNA binding			ovary(3)	3		all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634)		BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135)		GAAGCGAAGGCTGCCTGAGGA	0.587			T	MKL1	acute megakaryocytic leukemia								9	22					0.00448238	0.00470627	1	1	0	A	110883957	C	A	110883957	3	1	81	1	0	0	0	0	1	0	0	0	13168	796	28	4	1932	4	RBM15	1	110883957	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	166423	110883957	138366664	790	4406											
RBM15	64783	broad.mit.edu	37	1	110884569	110884569	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:110884569C>T	ENST00000369784.3	+	1	3442	c.2542C>T	c.(2542-2544)Cgc>Tgc	p.R848C	RBM15_ENST00000487146.2_Missense_Mutation_p.R848C|RBM15_ENST00000602849.1_Missense_Mutation_p.R848C	NM_022768.4	NP_073605.4	Q96T37	RBM15_HUMAN	RNA binding motif protein 15	848	SPOC.				interspecies interaction between organisms	nucleus	nucleotide binding|protein binding|RNA binding			ovary(3)	3		all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634)		BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135)		AGTAACTCGACGCATCAAAGT	0.532			T	MKL1	acute megakaryocytic leukemia								11	98					0	0	1	0	0	T	110884569	C	T	110884569	3	4	81	1	0	0	0	0	1	0	0	0	13168	536	19	1	2544	1	RBM15	1	110884569	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	612	110884569	138366052	791	4407											
SLC16A4	9122	broad.mit.edu	37	1	110919640	110919640	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:110919640G>T	ENST00000369779.4	-	7	1423	c.1174C>A	c.(1174-1176)Ctt>Att	p.L392I	SLC16A4_ENST00000472422.2_Missense_Mutation_p.L344I|SLC16A4_ENST00000437429.2_Missense_Mutation_p.L282I|SLC16A4_ENST00000541986.1_Missense_Mutation_p.L330I|SLC16A4_ENST00000369781.4_Missense_Mutation_p.L224I	NM_001201547.1|NM_004696.2	NP_001188476.1|NP_004687.1	O15374	MOT5_HUMAN	solute carrier family 16, member 4	392						integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity			breast(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(2)|ovary(3)|prostate(1)|stomach(2)	16		all_cancers(81;0.000476)|all_epithelial(167;0.000401)|all_lung(203;0.00277)|Lung NSC(277;0.0043)		Lung(183;0.0251)|all cancers(265;0.0766)|Epithelial(280;0.0807)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.14)	Pyruvic acid(DB00119)	TAGGTCATAAGTAGTGGAAAT	0.433													18	41					1.78486e-19	2.32457e-19	1	1	0	T	110919640	G	T	110919640	3	4	81	1	0	0	0	0	1	0	0	0	14465	1029	36	4	301	4	SLC16A4	1	110919640	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	35071	110919640	138330981	792	4408											
SLC16A4	9122	broad.mit.edu	37	1	110921953	110921953	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:110921953G>A	ENST00000369779.4	-	6	801	c.552C>T	c.(550-552)atC>atT	p.I184I	SLC16A4_ENST00000497687.1_5'UTR|SLC16A4_ENST00000472422.2_Silent_p.I136I|SLC16A4_ENST00000437429.2_Silent_p.I74I|SLC16A4_ENST00000541986.1_Silent_p.I122I|SLC16A4_ENST00000369781.4_Intron	NM_001201547.1|NM_004696.2	NP_001188476.1|NP_004687.1	O15374	MOT5_HUMAN	solute carrier family 16, member 4	184						integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity			breast(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(2)|ovary(3)|prostate(1)|stomach(2)	16		all_cancers(81;0.000476)|all_epithelial(167;0.000401)|all_lung(203;0.00277)|Lung NSC(277;0.0043)		Lung(183;0.0251)|all cancers(265;0.0766)|Epithelial(280;0.0807)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.14)	Pyruvic acid(DB00119)	AATTCAATGCGATAGCTCCAA	0.378													19	44					0	0	1	0	0	A	110921953	G	A	110921953	2	1	81	1	0	0	0	0	0	0	0	1	14465	1048	37	1		1	SLC16A4	1	110921953	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2313	110921953	138328668	793	4409											
KCNA10	3744	broad.mit.edu	37	1	111060438	111060438	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:111060438G>A	ENST00000369771.2	-	1	1359	c.972C>T	c.(970-972)gtC>gtT	p.V324V		NM_005549.2	NP_005540.1	Q16322	KCA10_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 10	324						voltage-gated potassium channel complex	intracellular cyclic nucleotide activated cation channel activity|voltage-gated potassium channel activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(3)|skin(1)|urinary_tract(1)	35		all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134)		CTGTCTCCTGGACTAGCTCTG	0.527													5	100					0	0	1	0	0	A	111060438	G	A	111060438	2	1	81	1	0	0	0	0	0	0	0	1	8046	1161	41	2		2	KCNA10	1	111060438	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	138485	111060438	138190183	794	4410											
KCNA10	3744	broad.mit.edu	37	1	111060704	111060704	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:111060704C>T	ENST00000369771.2	-	1	1093	c.706G>A	c.(706-708)Gag>Aag	p.E236K		NM_005549.2	NP_005540.1	Q16322	KCA10_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 10	236						voltage-gated potassium channel complex	intracellular cyclic nucleotide activated cation channel activity|voltage-gated potassium channel activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(3)|skin(1)|urinary_tract(1)	35		all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134)		GGCAGTGTCTCCAGGCAGAAG	0.562													8	76					0	0	1	0	0	T	111060704	C	T	111060704	3	4	81	1	0	0	0	0	1	0	0	0	8046	864	30	2	833	2	KCNA10	1	111060704	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	266	111060704	138189917	795	4411											
KCNA3	3738	broad.mit.edu	37	1	111216892	111216892	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:111216892G>A	ENST00000369769.2	-	1	763	c.540C>T	c.(538-540)ttC>ttT	p.F180F		NM_002232.3	NP_002223.3	P22001	KCNA3_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 3	180						voltage-gated potassium channel complex	delayed rectifier potassium channel activity			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1)	38		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)		TCTCCTCGGAGAAAATGTCGA	0.657													6	119					0	0	1	0	0	A	111216892	G	A	111216892	2	1	81	1	0	0	0	0	0	0	0	1	8048	933	33	2		2	KCNA3	1	111216892	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	156188	111216892	138033729	796	4412											
CEPT1	10390	broad.mit.edu	37	1	111726101	111726101	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:111726101A>G	ENST00000545121.1	+	8	1231	c.1023A>G	c.(1021-1023)aaA>aaG	p.K341K	CEPT1_ENST00000357172.4_Silent_p.K341K|CEPT1_ENST00000467362.1_3'UTR	NM_001007794.1	NP_001007795.1	Q9Y6K0	CEPT1_HUMAN	choline/ethanolamine phosphotransferase 1	341						endoplasmic reticulum membrane|integral to membrane|nuclear membrane	diacylglycerol cholinephosphotransferase activity|ethanolaminephosphotransferase activity|metal ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)	8		all_cancers(81;2.27e-05)|all_epithelial(167;7.36e-06)|all_lung(203;0.00018)|Lung NSC(277;0.000359)		Lung(183;0.0173)|Colorectal(144;0.0375)|all cancers(265;0.0701)|LUSC - Lung squamous cell carcinoma(189;0.0888)|Epithelial(280;0.103)|COAD - Colon adenocarcinoma(174;0.141)	Choline(DB00122)	ACATGACGAAAAGTGAAATGC	0.348													24	86					0	0	1	0	0	G	111726101	A	G	111726101	2	3	81	1	0	0	0	0	0	0	0	1	3286	11	1	3		3	CEPT1	1	111726101	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	509209	111726101	137524520	797	4413											
OVGP1	5016	broad.mit.edu	37	1	111957148	111957148	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:111957148T>C	ENST00000369732.3	-	11	2030	c.1975A>G	c.(1975-1977)Aca>Gca	p.T659A		NM_002557.3	NP_002548.3	Q12889	OVGP1_HUMAN	oviductal glycoprotein 1, 120kDa	659					chitin catabolic process|female pregnancy|single fertilization	transport vesicle	cation binding|chitinase activity			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	39		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)		AGAGGACTTGTTTGAGGGGTT	0.473													22	48					0	0	1	0	0	C	111957148	T	C	111957148	3	2	81	1	0	0	0	0	1	0	0	0	11372	1725	60	3	65	3	OVGP1	1	111957148	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	231047	111957148	137293473	798	4414											
WDR77	79084	broad.mit.edu	37	1	111989719	111989719	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:111989719C>T	ENST00000235090.5	-	4	697	c.491G>A	c.(490-492)cGa>cAa	p.R164Q	WDR77_ENST00000411751.2_Intron|WDR77_ENST00000497278.1_5'UTR	NM_024102.2	NP_077007.1	Q9BQA1	MEP50_HUMAN	WD repeat domain 77	164					ncRNA metabolic process|spliceosomal snRNP assembly	cytosol|nucleus	ligand-dependent nuclear receptor transcription coactivator activity|protein binding			NS(2)|endometrium(2)|kidney(2)|large_intestine(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		all_cancers(81;0.000902)|all_epithelial(167;0.00056)|all_lung(203;0.00277)|Lung NSC(277;0.0043)		Lung(183;0.0238)|Colorectal(144;0.0296)|all cancers(265;0.0488)|Epithelial(280;0.0732)|COAD - Colon adenocarcinoma(174;0.114)|LUSC - Lung squamous cell carcinoma(189;0.135)		ATACTCACCTCGGTATGAACT	0.398													34	86					0	0	1	0	0	T	111989719	C	T	111989719	3	4	81	1	0	0	0	0	1	0	0	0	17387	884	31	1	565	1	WDR77	1	111989719	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	32571	111989719	137260902	799	4415											
C1orf162	128346	broad.mit.edu	37	1	112019956	112019957	+	Splice_Site	INS	-	-	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:112019956_112019957insA	ENST00000343534.5	+	4	358_359	c.108_109insA	c.(109-111)aaa>Aaaa	p.K37fs	C1orf162_ENST00000464591.1_Intron|C1orf162_ENST00000369718.3_Splice_Site_p.K37fs	NM_174896.2	NP_777556.1	Q8NEQ5	CA162_HUMAN	chromosome 1 open reading frame 162	37						integral to membrane				NS(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	5		all_cancers(81;0.00116)|all_epithelial(167;0.000761)|all_lung(203;0.00277)|Lung NSC(277;0.0043)		Lung(183;0.0236)|Colorectal(144;0.0286)|all cancers(265;0.0572)|Epithelial(280;0.0862)|COAD - Colon adenocarcinoma(174;0.112)|LUSC - Lung squamous cell carcinoma(189;0.134)		GCCAAAACAGCAAAAAACATTT	0.431													31	40	---	---	---	---						A	112019957	-	A	112019956	8	5	81	1	0	1	1	0	0	0	1	0	2023	724	25	0	118	0	C1orf162	1	112019956	Splice_Site	INS	-	TCGA-DU-6392-01A-11D-1705-08	30237	112019956	137230665	800	4416											
C1orf162	128346	broad.mit.edu	37	1	112020051	112020051	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:112020051G>A	ENST00000343534.5	+	4	452		c.e4+1		C1orf162_ENST00000464591.1_Intron|C1orf162_ENST00000369718.3_Splice_Site	NM_174896.2	NP_777556.1	Q8NEQ5	CA162_HUMAN	chromosome 1 open reading frame 162							integral to membrane				NS(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	5		all_cancers(81;0.00116)|all_epithelial(167;0.000761)|all_lung(203;0.00277)|Lung NSC(277;0.0043)		Lung(183;0.0236)|Colorectal(144;0.0286)|all cancers(265;0.0572)|Epithelial(280;0.0862)|COAD - Colon adenocarcinoma(174;0.112)|LUSC - Lung squamous cell carcinoma(189;0.134)		TACAGAAAATGTAAGTGGTCT	0.448													25	35					0	0	1	0	0	A	112020051	G	A	112020051	5	1	81	1	0	0	0	0	0	0	1	0	2023	1391	48	2	213	2	C1orf162	1	112020051	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	95	112020051	137230570	801	4417											
ADORA3	140	broad.mit.edu	37	1	112045664	112045664	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:112045664C>T	ENST00000241356.4	-	1	718	c.313G>A	c.(313-315)Gct>Act	p.A105T	ADORA3_ENST00000369716.4_Missense_Mutation_p.A105T|ADORA3_ENST00000369717.4_Intron|ADORA3_ENST00000486342.1_5'UTR	NM_000677.3	NP_000668.1	P33765	AA3R_HUMAN	adenosine A3 receptor	105			A -> T (in a colorectal cancer sample; somatic mutation).		activation of adenylate cyclase activity|inflammatory response|regulation of heart contraction	integral to plasma membrane	adenosine receptor activity, G-protein coupled	p.A105T(1)		NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|skin(1)	12		all_cancers(81;1.63e-06)|all_epithelial(167;5.01e-06)|all_lung(203;8.02e-05)|Lung NSC(277;0.000156)		all cancers(265;0.0185)|Colorectal(144;0.0186)|Lung(183;0.0238)|COAD - Colon adenocarcinoma(174;0.0644)|Epithelial(280;0.0872)|LUSC - Lung squamous cell carcinoma(189;0.134)	Adenosine(DB00640)|Aminophylline(DB01223)	CGGTCCACAGCGATGGCCAGC	0.552													10	26					0	0	1	0	0	T	112045664	C	T	112045664	3	4	81	1	0	0	0	0	1	0	0	0	328	768	27	1	1365	1	ADORA3	1	112045664	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	25613	112045664	137204957	802	4418											
ADORA3	140	broad.mit.edu	37	1	112045919	112045919	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:112045919T>G	ENST00000241356.4	-	1	463	c.58A>C	c.(58-60)Att>Ctt	p.I20L	ADORA3_ENST00000369716.4_Missense_Mutation_p.I20L|ADORA3_ENST00000369717.4_Intron	NM_000677.3	NP_000668.1	P33765	AA3R_HUMAN	adenosine A3 receptor	20					activation of adenylate cyclase activity|inflammatory response|regulation of heart contraction	integral to plasma membrane	adenosine receptor activity, G-protein coupled			NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|skin(1)	12		all_cancers(81;1.63e-06)|all_epithelial(167;5.01e-06)|all_lung(203;8.02e-05)|Lung NSC(277;0.000156)		all cancers(265;0.0185)|Colorectal(144;0.0186)|Lung(183;0.0238)|COAD - Colon adenocarcinoma(174;0.0644)|Epithelial(280;0.0872)|LUSC - Lung squamous cell carcinoma(189;0.134)	Adenosine(DB00640)|Aminophylline(DB01223)	CCAATGAAAATTTCCATGGTG	0.537													5	18					0	0	1	0	0	G	112045919	T	G	112045919	3	3	81	1	0	0	0	0	1	0	0	0	328	1493	52	4	1620	4	ADORA3	1	112045919	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	255	112045919	137204702	803	4419											
KCND3	3752	broad.mit.edu	37	1	112329661	112329661	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:112329661C>T	ENST00000369697.1	-	2	1243	c.1174G>A	c.(1174-1176)Gtc>Atc	p.V392I	KCND3_ENST00000302127.4_Missense_Mutation_p.V392I|KCND3_ENST00000315987.2_Missense_Mutation_p.V392I			Q9UK17	KCND3_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 3	392						sarcolemma|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	49		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)		ATGACCAGGACGCCACTCAAG	0.517													13	37					0	0	1	0	0	T	112329661	C	T	112329661	3	4	81	1	0	0	0	0	1	0	0	0	8064	536	19	1	817	1	KCND3	1	112329661	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	283742	112329661	136920960	804	4420											
CTTNBP2NL	55917	broad.mit.edu	37	1	112998752	112998752	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:112998752G>A	ENST00000271277.6	+	6	863	c.638G>A	c.(637-639)cGg>cAg	p.R213Q		NM_018704.2	NP_061174.1	Q9P2B4	CT2NL_HUMAN	CTTNBP2 N-terminal like	213						actin cytoskeleton	protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	29		all_cancers(81;0.00064)|all_epithelial(167;0.000415)|all_lung(203;0.00045)|Lung NSC(69;0.000705)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GAGAAGAGCCGGGTGAGTAAA	0.517													12	52					0	0	1	0	0	A	112998752	G	A	112998752	3	1	81	1	0	0	0	0	1	0	0	0	4070	1116	39	1	652	1	CTTNBP2NL	1	112998752	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	669091	112998752	136251869	805	4421											
CTTNBP2NL	55917	broad.mit.edu	37	1	112999761	112999761	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:112999761A>G	ENST00000271277.6	+	6	1872	c.1647A>G	c.(1645-1647)tcA>tcG	p.S549S	CTTNBP2NL_ENST00000607039.1_3'UTR	NM_018704.2	NP_061174.1	Q9P2B4	CT2NL_HUMAN	CTTNBP2 N-terminal like	549						actin cytoskeleton	protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	29		all_cancers(81;0.00064)|all_epithelial(167;0.000415)|all_lung(203;0.00045)|Lung NSC(69;0.000705)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CAAGCCATTCACCTACTCCAG	0.552													45	51					0	0	1	0	0	G	112999761	A	G	112999761	2	3	81	1	0	0	0	0	0	0	0	1	4070	146	6	3		3	CTTNBP2NL	1	112999761	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	1009	112999761	136250860	806	4422											
WNT2B	7482	broad.mit.edu	37	1	113063007	113063007	+	Missense_Mutation	SNP	G	G	A	rs144189370		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:113063007G>A	ENST00000369686.5	+	6	1099	c.995G>A	c.(994-996)cGt>cAt	p.R332H	WNT2B_ENST00000369684.4_Missense_Mutation_p.R351H|WNT2B_ENST00000256640.5_Missense_Mutation_p.R259H	NM_004185.3	NP_004176.2	Q93097	WNT2B_HUMAN	wingless-type MMTV integration site family, member 2B						chondrocyte differentiation|cornea development in camera-type eye|dorsal/ventral axis specification|forebrain regionalization|hemopoietic stem cell proliferation|iris morphogenesis|lens development in camera-type eye|lung induction|male gonad development|neuron differentiation|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled-2 binding|signal transducer activity			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(4)|ovary(2)|skin(1)|stomach(1)	18	Lung SC(450;0.246)	all_cancers(81;7.31e-07)|all_epithelial(167;4.59e-06)|all_lung(203;2.56e-05)|Lung NSC(69;4.38e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CGAGTCACCCGTGTTACCCAG	0.527													7	29					0	0	1	0	0	A	113063007	G	A	113063007	3	1	81	1	0	0	0	0	1	0	0	0	17447	1145	40	1	1203	1	WNT2B	1	113063007	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	63246	113063007	136187614	807	4423											
RHOC	389	broad.mit.edu	37	1	113244177	113244177	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:113244177G>A	ENST00000369636.2	-	5	555	c.506C>T	c.(505-507)gCt>gTt	p.A169V	RHOC_ENST00000369632.2_Silent_p.G189G|RHOC_ENST00000285735.2_Silent_p.G189G|RHOC_ENST00000369633.2_Silent_p.G189G|RHOC_ENST00000369637.1_Silent_p.G189G|RHOC_ENST00000339083.7_Silent_p.G189G|RHOC_ENST00000369638.2_Silent_p.G189G|RHOC_ENST00000369642.3_Silent_p.G189G			P08134	RHOC_HUMAN	ras homolog family member C	0					axon guidance|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding|GTPase activity|signal transducer activity			endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	9	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GAATGGGACAGCCCCTCCGAC	0.602													29	41					0	0	1	0	0	A	113244177	G	A	113244177	3	1	81	1	0	0	0	0	1	0	0	0	13386	958	34	2	18	2	RHOC	1	113244177	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	181170	113244177	136006444	808	4424											
PPM1J	333926	broad.mit.edu	37	1	113254974	113254974	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:113254974C>T	ENST00000464951.1	-	5	1625	c.217G>A	c.(217-219)Gat>Aat	p.D73N	PPM1J_ENST00000309276.6_Missense_Mutation_p.D279N|PPM1J_ENST00000359994.4_Missense_Mutation_p.D73N			Q5JR12	PPM1J_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1J	279										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	14	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TACCTGCTATCGCCTGCATTG	0.607													5	9					0	0	1	0	0	T	113254974	C	T	113254974	3	4	81	1	0	0	0	0	1	0	0	0	12391	884	31	1	710	1	PPM1J	1	113254974	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	10797	113254974	135995647	809	4425											
FAM19A3	284467	broad.mit.edu	37	1	113266618	113266618	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:113266618G>A	ENST00000369630.3	+	4	534	c.317G>A	c.(316-318)cGc>cAc	p.R106H	FAM19A3_ENST00000361886.3_Intron			Q7Z5A8	F19A3_HUMAN	family with sequence similarity 19 (chemokine (C-C motif)-like), member A3	0						extracellular region				lung(4)|ovary(1)	5	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GCTGCACTCCGCCTCCTGCTC	0.632													16	27					0	0	1	0	0	A	113266618	G	A	113266618	3	1	81	1	0	0	0	0	1	0	0	0	5565	1087	38	1	327	1	FAM19A3	1	113266618	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	11644	113266618	135984003	810	4426											
SLC16A1	6566	broad.mit.edu	37	1	113460590	113460590	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:113460590G>T	ENST00000538576.1	-	4	1269	c.438C>A	c.(436-438)gcC>gcA	p.A146A	SLC16A1_ENST00000369626.3_Silent_p.A146A|SLC16A1_ENST00000433570.4_Silent_p.A146A	NM_001166496.1	NP_001159968.1	P53985	MOT1_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 1	146					blood coagulation|leukocyte migration|organic anion transport|pyruvate metabolic process	integral to membrane|membrane fraction|plasma membrane	mevalonate transmembrane transporter activity|protein binding|secondary active monocarboxylate transmembrane transporter activity|symporter activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|urinary_tract(1)	20	Lung SC(450;0.246)	all_cancers(81;7.6e-08)|all_epithelial(167;3.82e-07)|all_lung(203;3.07e-05)|Lung NSC(69;5.51e-05)|Prostate(1639;0.00232)		Epithelial(280;7.31e-13)|all cancers(265;5.1e-10)|Kidney(133;5.29e-07)|KIRC - Kidney renal clear cell carcinoma(1967;8.63e-06)|OV - Ovarian serous cystadenocarcinoma(397;1.48e-05)|BRCA - Breast invasive adenocarcinoma(282;0.003)|LUSC - Lung squamous cell carcinoma(189;0.008)|Lung(183;0.00948)|Colorectal(144;0.0325)|COAD - Colon adenocarcinoma(174;0.0643)	Pyruvic acid(DB00119)	CCAGTCCGTTGGCCAATGGTC	0.478													22	26					3.01185e-09	3.62286e-09	1	1	0	T	113460590	G	T	113460590	2	4	81	1	0	0	0	0	0	0	0	1	14457	1335	47	5		5	SLC16A1	1	113460590	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	193972	113460590	135790031	811	4427											
LRIG2	9860	broad.mit.edu	37	1	113666508	113666508	+	Missense_Mutation	SNP	C	C	T	rs151009293		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:113666508C>T	ENST00000361127.5	+	18	3181	c.2983C>T	c.(2983-2985)Cgg>Tgg	p.R995W	LRIG2_ENST00000492207.1_3'UTR	NM_014813.1	NP_055628.1	O94898	LRIG2_HUMAN	leucine-rich repeats and immunoglobulin-like domains 2							cytoplasm|integral to membrane|plasma membrane				breast(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(10)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	31	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)		AACATTGCAGCGGCCCGTGTG	0.418													19	14					0	0	1	0	0	T	113666508	C	T	113666508	3	4	81	1	0	0	0	0	1	0	0	0	8990	759	27	1	3053	1	LRIG2	1	113666508	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	205918	113666508	135584113	812	4428											
MAGI3	260425	broad.mit.edu	37	1	114128135	114128135	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:114128135G>A	ENST00000369615.1	+	4	742	c.680G>A	c.(679-681)aGc>aAc	p.S227N	MAGI3_ENST00000369611.4_Missense_Mutation_p.S227N|MAGI3_ENST00000307546.9_Missense_Mutation_p.S227N|MAGI3_ENST00000369617.4_Missense_Mutation_p.S227N	NM_152900.2	NP_690864.2	Q5TCQ9	MAGI3_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 3	227	Guanylate kinase-like.				apoptosis|interspecies interaction between organisms|intracellular signal transduction	nucleus|tight junction	ATP binding|guanylate kinase activity|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		ACATCTGTCAGCAAGATGGAA	0.428													23	46					0	0	1	0	0	A	114128135	G	A	114128135	3	1	81	1	0	0	0	0	1	0	0	0	9242	971	34	2	694	2	MAGI3	1	114128135	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	461627	114128135	135122486	813	4429											
MAGI3	260425	broad.mit.edu	37	1	114133192	114133192	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:114133192A>G	ENST00000369615.1	+	5	912	c.850A>G	c.(850-852)Aat>Gat	p.N284D	MAGI3_ENST00000369611.4_Missense_Mutation_p.N284D|MAGI3_ENST00000307546.9_Missense_Mutation_p.N284D|MAGI3_ENST00000369617.4_Missense_Mutation_p.N284D	NM_152900.2	NP_690864.2	Q5TCQ9	MAGI3_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 3	284	Guanylate kinase-like.				apoptosis|interspecies interaction between organisms|intracellular signal transduction	nucleus|tight junction	ATP binding|guanylate kinase activity|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GGACTTTAGAAATTATATGAT	0.413													13	70					0	0	1	0	0	G	114133192	A	G	114133192	3	3	81	1	0	0	0	0	1	0	0	0	9242	14	1	3	868	3	MAGI3	1	114133192	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	5057	114133192	135117429	814	4430											
MAGI3	260425	broad.mit.edu	37	1	114196468	114196468	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:114196468C>T	ENST00000369615.1	+	15	2519	c.2457C>T	c.(2455-2457)gaC>gaT	p.D819D	MAGI3_ENST00000369611.4_Silent_p.D819D|MAGI3_ENST00000307546.9_Silent_p.D819D|MAGI3_ENST00000369617.4_Silent_p.D844D	NM_152900.2	NP_690864.2	Q5TCQ9	MAGI3_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 3	844	Interaction with BAI1.|PDZ 4.				apoptosis|interspecies interaction between organisms|intracellular signal transduction	nucleus|tight junction	ATP binding|guanylate kinase activity|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		AACCCGAGGACGACAGCTCTC	0.478													17	169					0	0	1	0	0	T	114196468	C	T	114196468	2	4	81	1	0	0	0	0	0	0	0	1	9242	535	19	1		1	MAGI3	1	114196468	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	63276	114196468	135054153	815	4431											
MAGI3	260425	broad.mit.edu	37	1	114226160	114226160	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:114226160G>A	ENST00000307546.9	+	21	4045	c.3970G>A	c.(3970-3972)Gct>Act	p.A1324T	MAGI3_ENST00000369615.1_3'UTR	NM_001142782.1	NP_001136254.1	Q5TCQ9	MAGI3_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 3	1349					apoptosis|interspecies interaction between organisms|intracellular signal transduction	nucleus|tight junction	ATP binding|guanylate kinase activity|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GGGCAGTAATGCTGAGCAGAT	0.423													26	45					0	0	1	0	0	A	114226160	G	A	114226160	3	1	81	1	0	0	0	0	1	0	0	0	9242	1319	46	2	4106	2	MAGI3	1	114226160	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	29692	114226160	135024461	816	4432											
PHTF1	10745	broad.mit.edu	37	1	114246748	114246748	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:114246748C>A	ENST00000369604.1	-	15	2328	c.1845G>T	c.(1843-1845)tcG>tcT	p.S615S	PHTF1_ENST00000474926.1_5'UTR|PHTF1_ENST00000369600.1_Silent_p.S562S|PHTF1_ENST00000369598.1_Silent_p.S570S|PHTF1_ENST00000369596.2_Silent_p.S562S|PHTF1_ENST00000357783.2_Silent_p.S615S|PHTF1_ENST00000393357.2_Silent_p.S615S			Q9UMS5	PHTF1_HUMAN	putative homeodomain transcription factor 1	615						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTAGGAAAACCGAGGATACAA	0.423													13	12					9.05144e-12	1.12483e-11	1	1	0	A	114246748	C	A	114246748	2	1	81	1	0	0	0	0	0	0	0	1	11910	639	23	5		5	PHTF1	1	114246748	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	20588	114246748	135003873	817	4433											
PHTF1	10745	broad.mit.edu	37	1	114248605	114248605	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:114248605A>G	ENST00000369604.1	-	13	2061	c.1578T>C	c.(1576-1578)atT>atC	p.I526I	PHTF1_ENST00000474926.1_5'UTR|PHTF1_ENST00000369600.1_Silent_p.I473I|PHTF1_ENST00000369598.1_Silent_p.I481I|PHTF1_ENST00000369596.2_Silent_p.I473I|PHTF1_ENST00000357783.2_Silent_p.I526I|PHTF1_ENST00000393357.2_Silent_p.I526I			Q9UMS5	PHTF1_HUMAN	putative homeodomain transcription factor 1	526						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		ACAAAACAATAATAGGTGTAA	0.383													8	60					0	0	1	0	0	G	114248605	A	G	114248605	2	3	81	1	0	0	0	0	0	0	0	1	11910	358	13	3		3	PHTF1	1	114248605	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	1857	114248605	135002016	818	4434											
RSBN1	54665	broad.mit.edu	37	1	114308942	114308942	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:114308942G>A	ENST00000261441.5	-	7	2132	c.2069C>T	c.(2068-2070)tCg>tTg	p.S690L	RSBN1_ENST00000369581.2_5'UTR	NM_018364.3	NP_060834.2	Q5VWQ0	RSBN1_HUMAN	round spermatid basic protein 1	690						nucleus				breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(3)|urinary_tract(2)	29	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GCACACCGCCGAAACTGTTTT	0.438													45	78					0	0	1	0	0	A	114308942	G	A	114308942	3	1	81	1	0	0	0	0	1	0	0	0	13748	1059	37	1	343	1	RSBN1	1	114308942	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	60337	114308942	134941679	819	4435											
DCLRE1B	64858	broad.mit.edu	37	1	114448282	114448282	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:114448282G>A	ENST00000369563.3	+	1	520	c.74G>A	c.(73-75)cGt>cAt	p.R25H	DCLRE1B_ENST00000466480.1_3'UTR	NM_022836.3	NP_073747.1	Q9H816	DCR1B_HUMAN	DNA cross-link repair 1B	25					cell cycle checkpoint|DNA repair|protection from non-homologous end joining at telomere|telomeric 3' overhang formation|telomeric loop formation	centrosome|chromosome, telomeric region|nucleus	5'-3' exonuclease activity|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(6)|stomach(1)	18	Lung SC(450;0.184)	all_cancers(81;1.46e-05)|all_epithelial(167;2.42e-05)|all_lung(203;0.000353)|Lung NSC(69;0.000518)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GGCACCGCACGTCTCTTCTTC	0.627								Other identified genes with known or suspected DNA repair function					25	54					0	0	1	0	0	A	114448282	G	A	114448282	3	1	81	1	0	0	0	0	1	0	0	0	4318	1145	40	1	76	1	DCLRE1B	1	114448282	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	139340	114448282	134802339	820	4436											
HIPK1	204851	broad.mit.edu	37	1	114483046	114483046	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:114483046C>T	ENST00000369558.1	+	2	273	c.41C>T	c.(40-42)tCg>tTg	p.S14L	HIPK1_ENST00000369561.4_Missense_Mutation_p.S14L|HIPK1_ENST00000426820.2_Missense_Mutation_p.S14L|HIPK1_ENST00000369555.2_Missense_Mutation_p.S14L|HIPK1_ENST00000369559.4_Missense_Mutation_p.S14L|HIPK1_ENST00000369554.2_Missense_Mutation_p.S14L			Q86Z02	HIPK1_HUMAN	homeodomain interacting protein kinase 1	14					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2)	39	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CCATCAGTGTCGTCGAGTGCC	0.443													105	141					0	0	1	0	0	T	114483046	C	T	114483046	3	4	81	1	0	0	0	0	1	0	0	0	7157	893	31	1	43	1	HIPK1	1	114483046	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	34764	114483046	134767575	821	4437											
HIPK1	204851	broad.mit.edu	37	1	114512727	114512727	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:114512727G>T	ENST00000369558.1	+	14	3153	c.2921G>T	c.(2920-2922)aGa>aTa	p.R974I	HIPK1_ENST00000369553.1_Missense_Mutation_p.R580I|HIPK1_ENST00000406344.1_Missense_Mutation_p.R580I|HIPK1_ENST00000369561.4_Missense_Mutation_p.R940I|HIPK1_ENST00000426820.2_Missense_Mutation_p.R974I|HIPK1_ENST00000369555.2_Missense_Mutation_p.R929I|HIPK1_ENST00000340480.4_Missense_Mutation_p.R600I|HIPK1_ENST00000369559.4_Missense_Mutation_p.R974I|HIPK1_ENST00000369554.2_Missense_Mutation_p.R929I			Q86Z02	HIPK1_HUMAN	homeodomain interacting protein kinase 1	974	Interaction with TP53.|Required for localization to nuclear speckles (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2)	39	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GGGCCTGGCAGAGTTGTGGCA	0.542													11	110					0.00010058	0.000110448	1	1	0	T	114512727	G	T	114512727	3	4	81	1	0	0	0	0	1	0	0	0	7157	942	33	4	2989	4	HIPK1	1	114512727	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	29681	114512727	134737894	822	4438											
SYT6	148281	broad.mit.edu	37	1	114640391	114640391	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:114640391T>C	ENST00000393296.1	-	6	1550	c.1473A>G	c.(1471-1473)gcA>gcG	p.A491A	SYT6_ENST00000610222.1_Silent_p.A491A|SYT6_ENST00000609117.1_Silent_p.A406A|SYT6_ENST00000369547.1_Silent_p.A406A|SYT6_ENST00000607941.1_Silent_p.A406A			Q5T7P8	SYT6_HUMAN	synaptotagmin VI	491	Necessary for cell membrane association (isoform 2) (By similarity).				acrosomal vesicle exocytosis	cell junction|cytosol|integral to membrane|perinuclear endoplasmic reticulum|peripheral to membrane of membrane fraction|synaptic vesicle membrane	clathrin binding|metal ion binding|protein homodimerization activity|syntaxin binding|transporter activity			central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37	Lung SC(450;0.184)	all_cancers(81;4.41e-08)|all_epithelial(167;5.18e-08)|all_lung(203;1.58e-05)|Lung NSC(69;2.82e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		AGTGCCAGTGTGCGATGGGCT	0.567													36	35					0	0	1	0	0	C	114640391	T	C	114640391	2	2	81	1	0	0	0	0	0	0	0	1	15535	1683	59	3		3	SYT6	1	114640391	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	127664	114640391	134610230	823	4439											
SYT6	148281	broad.mit.edu	37	1	114680281	114680281	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:114680281G>A	ENST00000393296.1	-	3	984	c.907C>T	c.(907-909)Ccc>Tcc	p.P303S	SYT6_ENST00000610222.1_Missense_Mutation_p.P303S|SYT6_ENST00000609117.1_Missense_Mutation_p.P218S|SYT6_ENST00000369547.1_Missense_Mutation_p.P218S|SYT6_ENST00000607941.1_Missense_Mutation_p.P218S			Q5T7P8	SYT6_HUMAN	synaptotagmin VI	303	C2 1.				acrosomal vesicle exocytosis	cell junction|cytosol|integral to membrane|perinuclear endoplasmic reticulum|peripheral to membrane of membrane fraction|synaptic vesicle membrane	clathrin binding|metal ion binding|protein homodimerization activity|syntaxin binding|transporter activity			central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37	Lung SC(450;0.184)	all_cancers(81;4.41e-08)|all_epithelial(167;5.18e-08)|all_lung(203;1.58e-05)|Lung NSC(69;2.82e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TCCTCATAGGGCACAGGGAAG	0.567													10	32					0	0	1	0	0	A	114680281	G	A	114680281	3	1	81	1	0	0	0	0	1	0	0	0	15535	1203	42	2	645	2	SYT6	1	114680281	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	39890	114680281	134570340	824	4440											
SYT6	148281	broad.mit.edu	37	1	114680430	114680430	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:114680430G>A	ENST00000393296.1	-	3	835	c.758C>T	c.(757-759)gCt>gTt	p.A253V	SYT6_ENST00000610222.1_Missense_Mutation_p.A253V|SYT6_ENST00000609117.1_Missense_Mutation_p.A168V|SYT6_ENST00000369547.1_Missense_Mutation_p.A168V|SYT6_ENST00000607941.1_Missense_Mutation_p.A168V			Q5T7P8	SYT6_HUMAN	synaptotagmin VI	253	C2 1.				acrosomal vesicle exocytosis	cell junction|cytosol|integral to membrane|perinuclear endoplasmic reticulum|peripheral to membrane of membrane fraction|synaptic vesicle membrane	clathrin binding|metal ion binding|protein homodimerization activity|syntaxin binding|transporter activity			central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37	Lung SC(450;0.184)	all_cancers(81;4.41e-08)|all_epithelial(167;5.18e-08)|all_lung(203;1.58e-05)|Lung NSC(69;2.82e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GAGGTCAAAAGCCTTCAGGAT	0.547													31	64					0	0	1	0	0	A	114680430	G	A	114680430	3	1	81	1	0	0	0	0	1	0	0	0	15535	971	34	2	794	2	SYT6	1	114680430	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	149	114680430	134570191	825	4441											
SYT6	148281	broad.mit.edu	37	1	114680571	114680571	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:114680571C>T	ENST00000393296.1	-	3	694	c.617G>A	c.(616-618)cGc>cAc	p.R206H	SYT6_ENST00000610222.1_Missense_Mutation_p.R206H|SYT6_ENST00000609117.1_Missense_Mutation_p.R121H|SYT6_ENST00000369547.1_Missense_Mutation_p.R121H|SYT6_ENST00000607941.1_Missense_Mutation_p.R121H			Q5T7P8	SYT6_HUMAN	synaptotagmin VI	206					acrosomal vesicle exocytosis	cell junction|cytosol|integral to membrane|perinuclear endoplasmic reticulum|peripheral to membrane of membrane fraction|synaptic vesicle membrane	clathrin binding|metal ion binding|protein homodimerization activity|syntaxin binding|transporter activity			central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37	Lung SC(450;0.184)	all_cancers(81;4.41e-08)|all_epithelial(167;5.18e-08)|all_lung(203;1.58e-05)|Lung NSC(69;2.82e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		AGGCTTGATGCGGCCAATGCT	0.572													18	26					0	0	1	0	0	T	114680571	C	T	114680571	3	4	81	1	0	0	0	0	1	0	0	0	15535	768	27	1	935	1	SYT6	1	114680571	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	141	114680571	134570050	826	4442											
SYT6	148281	broad.mit.edu	37	1	114682286	114682286	+	Missense_Mutation	SNP	G	G	A	rs144510124	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:114682286G>A	ENST00000393296.1	-	2	540	c.463C>T	c.(463-465)Cgt>Tgt	p.R155C	SYT6_ENST00000610222.1_Missense_Mutation_p.R155C|SYT6_ENST00000609117.1_Missense_Mutation_p.R70C|SYT6_ENST00000369547.1_Missense_Mutation_p.R70C|SYT6_ENST00000607941.1_Missense_Mutation_p.R70C			Q5T7P8	SYT6_HUMAN	synaptotagmin VI	155					acrosomal vesicle exocytosis	cell junction|cytosol|integral to membrane|perinuclear endoplasmic reticulum|peripheral to membrane of membrane fraction|synaptic vesicle membrane	clathrin binding|metal ion binding|protein homodimerization activity|syntaxin binding|transporter activity			central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37	Lung SC(450;0.184)	all_cancers(81;4.41e-08)|all_epithelial(167;5.18e-08)|all_lung(203;1.58e-05)|Lung NSC(69;2.82e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CGGGTGTGACGCATGATGTGC	0.627													4	49					0	0	1	0	0	A	114682286	G	A	114682286	3	1	81	1	0	0	0	0	1	0	0	0	15535	1087	38	1	1093	1	SYT6	1	114682286	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1715	114682286	134568335	827	4443											
BCAS2	10286	broad.mit.edu	37	1	115118260	115118260	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:115118260G>T	ENST00000369541.3	-	4	417	c.370C>A	c.(370-372)Ctg>Atg	p.L124M	BCAS2_ENST00000485021.1_5'UTR	NM_005872.2	NP_005863.1	O75934	SPF27_HUMAN	breast carcinoma amplified sequence 2	124					mRNA processing|RNA splicing, via transesterification reactions	nucleolus|spliceosomal complex	protein binding			biliary_tract(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(4)	13	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		ATTAGTTCCAGATTCTCAATT	0.368													5	103					3.59834e-05	3.99423e-05	1	1	0	T	115118260	G	T	115118260	3	4	81	1	0	0	0	0	1	0	0	0	1349	933	33	4	323	4	BCAS2	1	115118260	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	435974	115118260	134132361	828	4444											
DENND2C	163259	broad.mit.edu	37	1	115130424	115130424	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:115130424C>T	ENST00000393274.1	-	19	3206	c.2581G>A	c.(2581-2583)Gta>Ata	p.V861I	DENND2C_ENST00000393277.1_Missense_Mutation_p.V749I|DENND2C_ENST00000393276.3_Missense_Mutation_p.V804I|DENND2C_ENST00000481894.1_5'UTR	NM_001256404.1	NP_001243333.1	Q68D51	DEN2C_HUMAN	DENN/MADD domain containing 2C	861	dDENN.									NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3)	37	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		AAGTGGCGTACACTTCGGGAG	0.478													19	50					0	0	1	0	0	T	115130424	C	T	115130424	3	4	81	1	0	0	0	0	1	0	0	0	4458	478	17	2	217	2	DENND2C	1	115130424	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	12164	115130424	134120197	829	4445											
DENND2C	163259	broad.mit.edu	37	1	115151396	115151396	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:115151396G>T	ENST00000393274.1	-	10	2093	c.1468C>A	c.(1468-1470)Ctg>Atg	p.L490M	DENND2C_ENST00000393277.1_Missense_Mutation_p.L490M|DENND2C_ENST00000393276.3_Missense_Mutation_p.L433M|DENND2C_ENST00000481894.1_5'UTR	NM_001256404.1	NP_001243333.1	Q68D51	DEN2C_HUMAN	DENN/MADD domain containing 2C	490										NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3)	37	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		AGTTCAAACAGCTGCTGCTCC	0.463													38	42					9.8876e-21	1.29266e-20	1	1	0	T	115151396	G	T	115151396	3	4	81	1	0	0	0	0	1	0	0	0	4458	962	34	4	1366	4	DENND2C	1	115151396	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	20972	115151396	134099225	830	4446											
DENND2C	163259	broad.mit.edu	37	1	115153703	115153703	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:115153703G>A	ENST00000393274.1	-	9	1985	c.1360C>T	c.(1360-1362)Ctg>Ttg	p.L454L	DENND2C_ENST00000393277.1_Silent_p.L454L|DENND2C_ENST00000393276.3_Silent_p.L397L|DENND2C_ENST00000481894.1_5'UTR	NM_001256404.1	NP_001243333.1	Q68D51	DEN2C_HUMAN	DENN/MADD domain containing 2C	454										NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3)	37	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTCTTTGGCAGATACTCGGCA	0.463													16	39					0	0	1	0	0	A	115153703	G	A	115153703	2	1	81	1	0	0	0	0	0	0	0	1	4458	933	33	2		2	DENND2C	1	115153703	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2307	115153703	134096918	831	4447											
DENND2C	163259	broad.mit.edu	37	1	115166215	115166215	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:115166215G>A	ENST00000393274.1	-	5	1481	c.856C>T	c.(856-858)Cag>Tag	p.Q286*	DENND2C_ENST00000393277.1_Nonsense_Mutation_p.Q286*|DENND2C_ENST00000393276.3_Nonsense_Mutation_p.Q286*|DENND2C_ENST00000481894.1_5'UTR	NM_001256404.1	NP_001243333.1	Q68D51	DEN2C_HUMAN	DENN/MADD domain containing 2C	286										NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3)	37	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		CGAATCGTCTGTGAGTTCCGA	0.333													6	62					0	0	1	0	0	A	115166215	G	A	115166215	4	1	81	1	0	0	0	0	0	1	0	0	4458	1386	48	2	1823	2	DENND2C	1	115166215	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	12512	115166215	134084406	832	4448											
AMPD1	270	broad.mit.edu	37	1	115218604	115218604	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:115218604T>G	ENST00000369538.3	-	10	1543	c.1496A>C	c.(1495-1497)aAt>aCt	p.N499T	AMPD1_ENST00000353928.6_Missense_Mutation_p.N470T|AMPD1_ENST00000520113.2_Missense_Mutation_p.N503T	NM_001172626.1	NP_001166097.1	P23109	AMPD1_HUMAN	adenosine monophosphate deaminase 1	470					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	Adenosine monophosphate(DB00131)	TGGAAGGAAATTCTTGGAACG	0.433													7	117					0	0	1	0	0	G	115218604	T	G	115218604	3	3	81	1	0	0	0	0	1	0	0	0	581	1493	52	4	858	4	AMPD1	1	115218604	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	52389	115218604	134032017	833	4449											
AMPD1	270	broad.mit.edu	37	1	115222982	115222982	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:115222982G>A	ENST00000369538.3	-	5	799	c.752C>T	c.(751-753)gCa>gTa	p.A251V	AMPD1_ENST00000353928.6_Missense_Mutation_p.A222V|AMPD1_ENST00000520113.2_Missense_Mutation_p.A255V	NM_001172626.1	NP_001166097.1	P23109	AMPD1_HUMAN	adenosine monophosphate deaminase 1	222					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	Adenosine monophosphate(DB00131)	GCTGACTGCTGCTTCATTAGG	0.443													18	159					0	0	1	0	0	A	115222982	G	A	115222982	3	1	81	1	0	0	0	0	1	0	0	0	581	1319	46	2	1622	2	AMPD1	1	115222982	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	4378	115222982	134027639	834	4450											
CSDE1	7812	broad.mit.edu	37	1	115267900	115267900	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:115267900G>A	ENST00000438362.2	-	15	2211	c.1833C>T	c.(1831-1833)agC>agT	p.S611S	CSDE1_ENST00000530886.1_Silent_p.S435S|CSDE1_ENST00000534699.1_Silent_p.S565S|CSDE1_ENST00000369530.1_Silent_p.S580S|CSDE1_ENST00000261443.5_Silent_p.S534S|CSDE1_ENST00000339438.6_Silent_p.S534S|CSDE1_ENST00000358528.4_Silent_p.S565S	NM_001242891.1	NP_001229820.1	O75534	CSDE1_HUMAN	cold shock domain containing E1, RNA-binding	565	CSD 8.				male gonad development|regulation of transcription, DNA-dependent	cytoplasm	DNA binding|protein binding|RNA binding			NS(1)|breast(4)|endometrium(11)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	51	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;2.21e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTTTGGACAAGCTATACTCGA	0.393													36	97					0	0	1	0	0	A	115267900	G	A	115267900	2	1	81	1	0	0	0	0	0	0	0	1	3954	962	34	2		2	CSDE1	1	115267900	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	44918	115267900	133982721	835	4451											
CSDE1	7812	broad.mit.edu	37	1	115267955	115267955	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:115267955C>T	ENST00000438362.2	-	15	2157		c.e15-1		CSDE1_ENST00000530886.1_Splice_Site|CSDE1_ENST00000534699.1_Splice_Site|CSDE1_ENST00000369530.1_Splice_Site|CSDE1_ENST00000261443.5_Splice_Site|CSDE1_ENST00000339438.6_Splice_Site|CSDE1_ENST00000358528.4_Splice_Site	NM_001242891.1	NP_001229820.1	O75534	CSDE1_HUMAN	cold shock domain containing E1, RNA-binding						male gonad development|regulation of transcription, DNA-dependent	cytoplasm	DNA binding|protein binding|RNA binding			NS(1)|breast(4)|endometrium(11)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	51	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;2.21e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		AGAGAACTCACTAAGGAGAAA	0.408													8	96					0	0	1	0	0	T	115267955	C	T	115267955	5	4	81	1	0	0	0	0	0	0	1	0	3954	579	20	2	780	2	CSDE1	1	115267955	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	55	115267955	133982666	836	4452											
CSDE1	7812	broad.mit.edu	37	1	115273208	115273208	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:115273208C>T	ENST00000438362.2	-	11	1628	c.1250G>A	c.(1249-1251)cGt>cAt	p.R417H	CSDE1_ENST00000530886.1_Missense_Mutation_p.R241H|CSDE1_ENST00000534699.1_Missense_Mutation_p.R371H|CSDE1_ENST00000369530.1_Missense_Mutation_p.R386H|CSDE1_ENST00000261443.5_Missense_Mutation_p.R340H|CSDE1_ENST00000339438.6_Missense_Mutation_p.R340H|CSDE1_ENST00000358528.4_Missense_Mutation_p.R371H	NM_001242891.1	NP_001229820.1	O75534	CSDE1_HUMAN	cold shock domain containing E1, RNA-binding	371					male gonad development|regulation of transcription, DNA-dependent	cytoplasm	DNA binding|protein binding|RNA binding			NS(1)|breast(4)|endometrium(11)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	51	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;2.21e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GAAGAACATACGAACATCACG	0.418													11	63					0	0	1	0	0	T	115273208	C	T	115273208	3	4	81	1	0	0	0	0	1	0	0	0	3954	536	19	1	1324	1	CSDE1	1	115273208	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	5253	115273208	133977413	837	4453											
CSDE1	7812	broad.mit.edu	37	1	115276643	115276643	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:115276643G>A	ENST00000438362.2	-	8	1194	c.816C>T	c.(814-816)ggC>ggT	p.G272G	CSDE1_ENST00000530886.1_Silent_p.G96G|CSDE1_ENST00000534699.1_Silent_p.G226G|CSDE1_ENST00000369530.1_Silent_p.G241G|CSDE1_ENST00000261443.5_Silent_p.G195G|CSDE1_ENST00000339438.6_Silent_p.G195G|CSDE1_ENST00000358528.4_Silent_p.G226G	NM_001242891.1	NP_001229820.1	O75534	CSDE1_HUMAN	cold shock domain containing E1, RNA-binding	226					male gonad development|regulation of transcription, DNA-dependent	cytoplasm	DNA binding|protein binding|RNA binding			NS(1)|breast(4)|endometrium(11)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	51	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;2.21e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		CCACATCATCGCCAGGCTGTA	0.358													36	46					0	0	1	0	0	A	115276643	G	A	115276643	2	1	81	1	0	0	0	0	0	0	0	1	3954	1074	38	1		1	CSDE1	1	115276643	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	3435	115276643	133973978	838	4454											
SIKE1	80143	broad.mit.edu	37	1	115321893	115321893	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:115321893G>A	ENST00000369528.5	-	3	367	c.290C>T	c.(289-291)tCc>tTc	p.S97F	SIKE1_ENST00000060969.5_Missense_Mutation_p.S93F|SIKE1_ENST00000506320.1_5'UTR	NM_001102396.1|NM_025073.2	NP_001095866.1|NP_079349.2	Q9BRV8	SIKE1_HUMAN	suppressor of IKBKE 1	93						cytosol	protein binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(2)	6						TTCCTCCAAGGAAATCCATAG	0.388													5	79					0	0	1	0	0	A	115321893	G	A	115321893	3	1	81	1	0	0	0	0	1	0	0	0	14375	1174	41	2	357	2	SIKE1	1	115321893	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	45250	115321893	133928728	839	4455											
SYCP1	6847	broad.mit.edu	37	1	115428851	115428851	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:115428851G>A	ENST00000369522.3	+	14	1351	c.1111G>A	c.(1111-1113)Gct>Act	p.A371T	SYCP1_ENST00000369518.1_Missense_Mutation_p.A371T	NM_001282541.1|NM_003176.2	NP_001269470.1|NP_003167.2	Q15431	SYCP1_HUMAN	synaptonemal complex protein 1	371					cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding		RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TAAAGCTAGAGCTGCTCATTC	0.318													23	54					0	0	1	0	0	A	115428851	G	A	115428851	3	1	81	1	0	0	0	0	1	0	0	0	15488	971	34	2	1161	2	SYCP1	1	115428851	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	106958	115428851	133821770	840	4456											
VANGL1	81839	broad.mit.edu	37	1	116227955	116227955	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:116227955G>A	ENST00000355485.2	+	7	1392	c.1121G>A	c.(1120-1122)cGt>cAt	p.R374H	VANGL1_ENST00000369510.4_Missense_Mutation_p.R372H|VANGL1_ENST00000310260.3_Missense_Mutation_p.R374H|VANGL1_ENST00000369509.1_Missense_Mutation_p.R374H	NM_001172411.1|NM_138959.2	NP_001165882.1|NP_620409.1	Q8TAA9	VANG1_HUMAN	VANGL planar cell polarity protein 1	374					multicellular organismal development	integral to membrane	protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|liver(2)|lung(13)|urinary_tract(1)	27	Lung SC(450;0.211)	all_cancers(81;1.24e-06)|all_epithelial(167;1.02e-06)|all_lung(203;7.95e-06)|Lung NSC(69;4.97e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		CACATTCAGCGTCTCCAGGCT	0.587													17	39					0	0	1	0	0	A	116227955	G	A	116227955	3	1	81	1	0	0	0	0	1	0	0	0	17179	1145	40	1	1143	1	VANGL1	1	116227955	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	799104	116227955	133022666	841	4457											
CASQ2	845	broad.mit.edu	37	1	116269612	116269612	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:116269612C>A	ENST00000261448.5	-	6	977		c.e6+1		CASQ2_ENST00000456138.2_Splice_Site	NM_001232.3	NP_001223.2	O14958	CASQ2_HUMAN	calsequestrin 2 (cardiac muscle)						heart development|striated muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|skin(1)	18	Lung SC(450;0.211)	all_cancers(81;1.25e-06)|all_epithelial(167;1.02e-06)|all_lung(203;8.03e-06)|Lung NSC(69;5.01e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		ATCTCAGGCACCTTTGGTGTT	0.532													10	13					0.00010058	0.000110448	1	1	0	A	116269612	C	A	116269612	5	1	81	1	0	0	0	0	0	0	1	0	2699	521	18	5	485	5	CASQ2	1	116269612	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	41657	116269612	132981009	842	4458											
NHLH2	4808	broad.mit.edu	37	1	116380610	116380610	+	Nonsense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:116380610A>T	ENST00000369506.1	-	1	5928	c.384T>A	c.(382-384)taT>taA	p.Y128*	NHLH2_ENST00000320238.3_Nonsense_Mutation_p.Y128*			Q02577	HEN2_HUMAN	nescient helix loop helix 2	128	Helix-loop-helix motif.				cell differentiation|central nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			prostate(1)	1	Lung SC(450;0.184)	all_cancers(81;1.75e-06)|all_epithelial(167;1.16e-06)|all_lung(203;9.55e-06)|Lung NSC(69;5.83e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		CGTGGTTGAGATAGGAGATGT	0.682													4	14					0	0	1	0	0	T	116380610	A	T	116380610	4	4	81	1	0	0	0	0	0	1	0	0	10451	340	12	4	27	4	NHLH2	1	116380610	Nonsense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	110998	116380610	132870011	843	4459											
SLC22A15	55356	broad.mit.edu	37	1	116563484	116563484	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:116563484C>T	ENST00000369503.4	+	4	706	c.576C>T	c.(574-576)ggC>ggT	p.G192G	SLC22A15_ENST00000369502.1_Silent_p.G192G	NM_018420.2	NP_060890.2	Q8IZD6	S22AF_HUMAN	solute carrier family 22, member 15	192					ion transport	integral to membrane	transmembrane transporter activity			endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|urinary_tract(1)	17	Lung SC(450;0.184)	all_cancers(81;3.17e-06)|all_epithelial(167;2.32e-06)|all_lung(203;9.81e-06)|Lung NSC(69;5.94e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		AATGTGTGGGCACCGCCTACT	0.498											OREG0013699	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	18	44					0	0	1	0	0	T	116563484	C	T	116563484	2	4	81	1	0	0	0	0	0	0	0	1	14501	697	25	2		2	SLC22A15	1	116563484	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	182874	116563484	132687137	844	4460											
SLC22A15	55356	broad.mit.edu	37	1	116569603	116569603	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:116569603C>A	ENST00000369503.4	+	5	818	c.688C>A	c.(688-690)Ctg>Atg	p.L230M	SLC22A15_ENST00000369502.1_Missense_Mutation_p.L230M	NM_018420.2	NP_060890.2	Q8IZD6	S22AF_HUMAN	solute carrier family 22, member 15	230					ion transport	integral to membrane	transmembrane transporter activity			endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|urinary_tract(1)	17	Lung SC(450;0.184)	all_cancers(81;3.17e-06)|all_epithelial(167;2.32e-06)|all_lung(203;9.81e-06)|Lung NSC(69;5.94e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		CCTAGCCATTCTGGTTAACCT	0.443													8	101					3.09899e-07	3.60815e-07	1	1	0	A	116569603	C	A	116569603	3	1	81	1	0	0	0	0	1	0	0	0	14501	912	32	4	706	4	SLC22A15	1	116569603	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	6119	116569603	132681018	845	4461											
ATP1A1	476	broad.mit.edu	37	1	116929920	116929920	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:116929920C>A	ENST00000537345.1	+	4	557	c.194C>A	c.(193-195)tCt>tAt	p.S65Y	ATP1A1_ENST00000369496.4_Missense_Mutation_p.S34Y|ATP1A1_ENST00000295598.5_Missense_Mutation_p.S65Y	NM_001160233.1	NP_001153705.1	P05023	AT1A1_HUMAN	ATPase, Na+/K+ transporting, alpha 1 polypeptide	65					ATP biosynthetic process	melanosome|sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|protein binding|sodium:potassium-exchanging ATPase activity			NS(2)|breast(2)|cervix(3)|endometrium(2)|kidney(5)|large_intestine(9)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47	Lung SC(450;0.225)	all_cancers(81;1.28e-06)|all_epithelial(167;3.48e-07)|all_lung(203;2.64e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0164)|LUSC - Lung squamous cell carcinoma(189;0.0548)|Colorectal(144;0.0825)|COAD - Colon adenocarcinoma(174;0.127)|all cancers(265;0.24)	Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Captopril(DB01197)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Esomeprazole(DB00736)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Ouabain(DB01092)|Pantoprazole(DB00213)|Trichlormethiazide(DB01021)	GGATTAACATCTGCTCGTGCA	0.507													5	41					0.184627	0.18622	1	1	0	A	116929920	C	A	116929920	3	1	81	1	0	0	0	0	1	0	0	0	1127	913	32	4	224	4	ATP1A1	1	116929920	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	360317	116929920	132320701	846	4462											
ATP1A1	476	broad.mit.edu	37	1	116929940	116929940	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:116929940C>A	ENST00000537345.1	+	4	577	c.214C>A	c.(214-216)Ctg>Atg	p.L72M	ATP1A1_ENST00000369496.4_Missense_Mutation_p.L41M|ATP1A1_ENST00000295598.5_Missense_Mutation_p.L72M	NM_001160233.1	NP_001153705.1	P05023	AT1A1_HUMAN	ATPase, Na+/K+ transporting, alpha 1 polypeptide	72					ATP biosynthetic process	melanosome|sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|protein binding|sodium:potassium-exchanging ATPase activity			NS(2)|breast(2)|cervix(3)|endometrium(2)|kidney(5)|large_intestine(9)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47	Lung SC(450;0.225)	all_cancers(81;1.28e-06)|all_epithelial(167;3.48e-07)|all_lung(203;2.64e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0164)|LUSC - Lung squamous cell carcinoma(189;0.0548)|Colorectal(144;0.0825)|COAD - Colon adenocarcinoma(174;0.127)|all cancers(265;0.24)	Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Captopril(DB01197)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Esomeprazole(DB00736)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Ouabain(DB01092)|Pantoprazole(DB00213)|Trichlormethiazide(DB01021)	AGCTGAGATCCTGGCGCGAGA	0.502													8	53					0.000157383	0.000171784	1	1	0	A	116929940	C	A	116929940	3	1	81	1	0	0	0	0	1	0	0	0	1127	680	24	4	244	4	ATP1A1	1	116929940	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	20	116929940	132320681	847	4463											
ATP1A1	476	broad.mit.edu	37	1	116931303	116931303	+	Missense_Mutation	SNP	C	C	T	rs139745455		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:116931303C>T	ENST00000537345.1	+	6	908	c.545C>T	c.(544-546)gCg>gTg	p.A182V	ATP1A1_ENST00000369496.4_Missense_Mutation_p.A151V|ATP1A1_ENST00000295598.5_Missense_Mutation_p.A182V	NM_001160233.1	NP_001153705.1	P05023	AT1A1_HUMAN	ATPase, Na+/K+ transporting, alpha 1 polypeptide	182					ATP biosynthetic process	melanosome|sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|protein binding|sodium:potassium-exchanging ATPase activity			NS(2)|breast(2)|cervix(3)|endometrium(2)|kidney(5)|large_intestine(9)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47	Lung SC(450;0.225)	all_cancers(81;1.28e-06)|all_epithelial(167;3.48e-07)|all_lung(203;2.64e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0164)|LUSC - Lung squamous cell carcinoma(189;0.0548)|Colorectal(144;0.0825)|COAD - Colon adenocarcinoma(174;0.127)|all cancers(265;0.24)	Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Captopril(DB01197)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Esomeprazole(DB00736)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Ouabain(DB01092)|Pantoprazole(DB00213)|Trichlormethiazide(DB01021)	AGCATAAATGCGGAGGAAGTT	0.438													43	71					0	0	1	0	0	T	116931303	C	T	116931303	3	4	81	1	0	0	0	0	1	0	0	0	1127	768	27	1	583	1	ATP1A1	1	116931303	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1363	116931303	132319318	848	4464											
IGSF3	3321	broad.mit.edu	37	1	117150586	117150586	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:117150586G>A	ENST00000369486.3	-	5	1965	c.1200C>T	c.(1198-1200)atC>atT	p.I400I	IGSF3_ENST00000318837.6_Silent_p.I400I|IGSF3_ENST00000369483.1_Silent_p.I400I	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3	400						integral to membrane				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		CTATGATGGGGATGTTCTTGG	0.512													6	100					0	0	1	0	0	A	117150586	G	A	117150586	2	1	81	1	0	0	0	0	0	0	0	1	7645	1164	41	2		2	IGSF3	1	117150586	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	219283	117150586	132100035	849	4465											
IGSF3	3321	broad.mit.edu	37	1	117156618	117156618	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:117156618C>A	ENST00000369486.3	-	4	1366	c.601G>T	c.(601-603)Gat>Tat	p.D201Y	IGSF3_ENST00000318837.6_Missense_Mutation_p.D201Y|IGSF3_ENST00000369483.1_Missense_Mutation_p.D201Y	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3	201	Ig-like C2-type 2.					integral to membrane				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		AGCATGAAATCTCGGCTCAGG	0.612													5	53					0.000602214	0.000646338	1	1	0	A	117156618	C	A	117156618	3	1	81	1	0	0	0	0	1	0	0	0	7645	913	32	4	3079	4	IGSF3	1	117156618	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	6032	117156618	132094003	850	4466											
PTGFRN	5738	broad.mit.edu	37	1	117492100	117492100	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:117492100C>T	ENST00000393203.2	+	4	1266	c.1119C>T	c.(1117-1119)tgC>tgT	p.C373C		NM_020440.2	NP_065173.2	Q9P2B2	FPRP_HUMAN	prostaglandin F2 receptor inhibitor	373	Ig-like C2-type 3.					endoplasmic reticulum membrane|Golgi apparatus|integral to membrane	protein binding			NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)	46	Lung SC(450;0.225)	all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446)		Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248)		ACTATTACTGCCACGTGTCCC	0.552													36	42					0	0	1	0	0	T	117492100	C	T	117492100	2	4	81	1	0	0	0	0	0	0	0	1	12800	747	26	2		2	PTGFRN	1	117492100	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	335482	117492100	131758521	851	4467	14	2									
PTGFRN	5738	broad.mit.edu	37	1	117492104	117492104	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:117492104G>A	ENST00000393203.2	+	4	1270	c.1123G>A	c.(1123-1125)Gtg>Atg	p.V375M		NM_020440.2	NP_065173.2	Q9P2B2	FPRP_HUMAN	prostaglandin F2 receptor inhibitor	375	Ig-like C2-type 3.					endoplasmic reticulum membrane|Golgi apparatus|integral to membrane	protein binding			NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)	46	Lung SC(450;0.225)	all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446)		Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248)		TTACTGCCACGTGTCCCTGTG	0.552													36	41					0	0	1	0	0	A	117492104	G	A	117492104	3	1	81	1	0	0	0	0	1	0	0	0	12800	1145	40	1	1137	1	PTGFRN	1	117492104	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	4	117492104	131758517	852	4468	14	2									
PTGFRN	5738	broad.mit.edu	37	1	117509809	117509809	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:117509809G>A	ENST00000393203.2	+	6	2063	c.1916G>A	c.(1915-1917)cGc>cAc	p.R639H	PTGFRN_ENST00000496699.1_3'UTR	NM_020440.2	NP_065173.2	Q9P2B2	FPRP_HUMAN	prostaglandin F2 receptor inhibitor	639	Ig-like C2-type 5.					endoplasmic reticulum membrane|Golgi apparatus|integral to membrane	protein binding			NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)	46	Lung SC(450;0.225)	all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446)		Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248)		GATGAGTTCCGCTATCGAATG	0.542													37	43					0	0	1	0	0	A	117509809	G	A	117509809	3	1	81	1	0	0	0	0	1	0	0	0	12800	1087	38	1	1938	1	PTGFRN	1	117509809	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	17705	117509809	131740812	853	4469											
PTGFRN	5738	broad.mit.edu	37	1	117509948	117509948	+	Silent	SNP	C	C	A	rs151131304		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:117509948C>A	ENST00000393203.2	+	6	2202	c.2055C>A	c.(2053-2055)acC>acA	p.T685T	PTGFRN_ENST00000496699.1_3'UTR	NM_020440.2	NP_065173.2	Q9P2B2	FPRP_HUMAN	prostaglandin F2 receptor inhibitor	685						endoplasmic reticulum membrane|Golgi apparatus|integral to membrane	protein binding			NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)	46	Lung SC(450;0.225)	all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446)		Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248)		ACTTCCAAACCTCAGGTGAGC	0.488													4	37					0.00909568	0.00944708	1	1	0	A	117509948	C	A	117509948	2	1	81	1	0	0	0	0	0	0	0	1	12800	668	24	4		4	PTGFRN	1	117509948	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	139	117509948	131740673	854	4470											
PTGFRN	5738	broad.mit.edu	37	1	117529445	117529445	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:117529445C>A	ENST00000393203.2	+	9	2643	c.2496C>A	c.(2494-2496)ccC>ccA	p.P832P		NM_020440.2	NP_065173.2	Q9P2B2	FPRP_HUMAN	prostaglandin F2 receptor inhibitor	832						endoplasmic reticulum membrane|Golgi apparatus|integral to membrane	protein binding			NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)	46	Lung SC(450;0.225)	all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446)		Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248)		TCAAGTATCCCTTGCTGATCG	0.607													4	60					0.00909568	0.00944708	1	1	0	A	117529445	C	A	117529445	2	1	81	1	0	0	0	0	0	0	0	1	12800	668	24	4		4	PTGFRN	1	117529445	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	19497	117529445	131721176	855	4471											
PTGFRN	5738	broad.mit.edu	37	1	117529477	117529477	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:117529477T>C	ENST00000393203.2	+	9	2675	c.2528T>C	c.(2527-2529)aTc>aCc	p.I843T		NM_020440.2	NP_065173.2	Q9P2B2	FPRP_HUMAN	prostaglandin F2 receptor inhibitor	843						endoplasmic reticulum membrane|Golgi apparatus|integral to membrane	protein binding			NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)	46	Lung SC(450;0.225)	all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446)		Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248)		TCCACGGTCATCGGGCTCCTG	0.602													7	82					0	0	1	0	0	C	117529477	T	C	117529477	3	2	81	1	0	0	0	0	1	0	0	0	12800	1435	50	3	2562	3	PTGFRN	1	117529477	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	32	117529477	131721144	856	4472											
CD101	9398	broad.mit.edu	37	1	117561089	117561089	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:117561089G>A	ENST00000256652.4	+	6	1982	c.1924G>A	c.(1924-1926)Gta>Ata	p.V642I	CD101_ENST00000369470.1_Missense_Mutation_p.V642I	NM_001256106.1|NM_001256109.1|NM_001256111.1|NM_004258.4	NP_001243035.1|NP_001243038.1|NP_001243040.1|NP_004249.2	Q93033	IGSF2_HUMAN	CD101 molecule	642	Ig-like C2-type 5.				cell surface receptor linked signaling pathway	integral to membrane|plasma membrane	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(14)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						TCAGTGTGAAGTAGAAGTTTA	0.483													11	75					0	0	1	0	0	A	117561089	G	A	117561089	3	1	81	1	0	0	0	0	1	0	0	0	2984	1029	36	2	1946	2	CD101	1	117561089	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	31612	117561089	131689532	857	4473											
TTF2	8458	broad.mit.edu	37	1	117626696	117626696	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:117626696C>T	ENST00000369466.4	+	11	2004	c.1960C>T	c.(1960-1962)Cat>Tat	p.H654Y		NM_003594.3	NP_003585.3	Q9UNY4	TTF2_HUMAN	transcription termination factor, RNA polymerase II		Helicase ATP-binding.				mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|termination of RNA polymerase II transcription	cytoplasm|spliceosomal complex|transcription elongation factor complex	ATP binding|ATP-dependent helicase activity|DNA binding|DNA-dependent ATPase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(24)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	50	Lung SC(450;0.225)	all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19)		CTCCCTGATCCATCATTGGAA	0.443													8	93					0	0	1	0	0	T	117626696	C	T	117626696	3	4	81	1	0	0	0	0	1	0	0	0	16781	594	21	2	2002	2	TTF2	1	117626696	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	65607	117626696	131623925	858	4474											
TRIM45	80263	broad.mit.edu	37	1	117663672	117663672	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:117663672G>A	ENST00000256649.4	-	1	678	c.152C>T	c.(151-153)aCg>aTg	p.T51M	TRIM45_ENST00000369461.3_Intron|TRIM45_ENST00000369464.3_Missense_Mutation_p.T51M	NM_025188.3	NP_079464.2	Q9H8W5	TRI45_HUMAN	tripartite motif containing 45	51						cytoplasm|nucleus	zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|prostate(1)	23	Lung SC(450;0.225)	all_cancers(81;0.000979)|all_lung(203;7.65e-05)|all_epithelial(167;0.000134)|Lung NSC(69;0.000389)		Lung(183;0.0537)|Colorectal(144;0.172)|LUSC - Lung squamous cell carcinoma(189;0.187)		CTCCAGACACGTGGTGCAAAC	0.562													9	60					0	0	1	0	0	A	117663672	G	A	117663672	3	1	81	1	0	0	0	0	1	0	0	0	16581	1145	40	1	1614	1	TRIM45	1	117663672	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	36976	117663672	131586949	859	4475											
MAN1A2	10905	broad.mit.edu	37	1	117945001	117945001	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:117945001G>T	ENST00000356554.3	+	2	1231	c.496G>T	c.(496-498)Gga>Tga	p.G166*	MAN1A2_ENST00000482811.1_Intron	NM_006699.3	NP_006690.1	O60476	MA1A2_HUMAN	mannosidase, alpha, class 1A, member 2	166					N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane|membrane fraction	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	27	Lung SC(450;0.225)	all_cancers(81;7.9e-06)|all_epithelial(167;7.39e-07)|all_lung(203;2.84e-06)|Lung NSC(69;1.99e-05)		Lung(183;0.0688)|Kidney(133;0.114)|LUSC - Lung squamous cell carcinoma(189;0.223)|KIRC - Kidney renal clear cell carcinoma(1967;0.237)|Colorectal(144;0.243)		CAACCTTGTAGGAATACGTGG	0.383													29	39					4.65686e-17	5.99349e-17	1	1	0	T	117945001	G	T	117945001	4	4	81	1	0	0	0	0	0	1	0	0	9261	1001	35	4	502	4	MAN1A2	1	117945001	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	281329	117945001	131305620	860	4476											
WDR3	10885	broad.mit.edu	37	1	118488742	118488742	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:118488742T>C	ENST00000349139.5	+	12	1409	c.1362T>C	c.(1360-1362)tgT>tgC	p.C454C		NM_006784.2	NP_006775.1	Q9UNX4	WDR3_HUMAN	WD repeat domain 3							nuclear membrane|nucleolus				breast(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(9)|liver(2)|lung(22)|prostate(2)|upper_aerodigestive_tract(1)	49	Esophageal squamous(2;0.162)	all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244)		OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185)		CAATGACCTGTGAATATGCAC	0.383													38	59					0	0	1	0	0	C	118488742	T	C	118488742	2	2	81	1	0	0	0	0	0	0	0	1	17345	1702	59	3		3	WDR3	1	118488742	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	543741	118488742	130761879	861	4477											
WDR3	10885	broad.mit.edu	37	1	118501575	118501575	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:118501575A>G	ENST00000349139.5	+	26	2672	c.2625A>G	c.(2623-2625)ccA>ccG	p.P875P	SPAG17_ENST00000336338.5_Intron	NM_006784.2	NP_006775.1	Q9UNX4	WDR3_HUMAN	WD repeat domain 3							nuclear membrane|nucleolus				breast(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(9)|liver(2)|lung(22)|prostate(2)|upper_aerodigestive_tract(1)	49	Esophageal squamous(2;0.162)	all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244)		OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185)		TGCTTGTGCCAGTGATAGAAA	0.388													26	43					0	0	1	0	0	G	118501575	A	G	118501575	2	3	81	1	0	0	0	0	0	0	0	1	17345	175	7	3		3	WDR3	1	118501575	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	12833	118501575	130749046	862	4478											
SPAG17	200162	broad.mit.edu	37	1	118514577	118514577	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:118514577G>T	ENST00000336338.5	-	45	6300	c.6235C>A	c.(6235-6237)Ctc>Atc	p.L2079I	SPAG17_ENST00000492438.1_5'UTR	NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	2079						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		GATGATGGGAGAAGATGGAAC	0.448													27	31					2.44723e-14	3.10401e-14	1	1	0	T	118514577	G	T	118514577	3	4	81	1	0	0	0	0	1	0	0	0	15035	942	33	4	452	4	SPAG17	1	118514577	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	13002	118514577	130736044	863	4479											
SPAG17	200162	broad.mit.edu	37	1	118558601	118558601	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:118558601G>T	ENST00000336338.5	-	29	4339	c.4274C>A	c.(4273-4275)cCt>cAt	p.P1425H		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1425						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		TCCATTGACAGGATCTGTGGC	0.393													14	33					2.31682e-05	2.58805e-05	1	1	0	T	118558601	G	T	118558601	3	4	81	1	0	0	0	0	1	0	0	0	15035	1000	35	4	2477	4	SPAG17	1	118558601	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	44024	118558601	130692020	864	4480											
SPAG17	200162	broad.mit.edu	37	1	118584517	118584517	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:118584517G>T	ENST00000336338.5	-	21	3028	c.2963C>A	c.(2962-2964)cCt>cAt	p.P988H		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	988						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		CTCCTTGTAAGGTGATTTTTT	0.403													10	384					2.17888e-05	2.43576e-05	1	1	0	T	118584517	G	T	118584517	3	4	81	1	0	0	0	0	1	0	0	0	15035	1000	35	4	3820	4	SPAG17	1	118584517	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	25916	118584517	130666104	865	4481											
SPAG17	200162	broad.mit.edu	37	1	118634246	118634246	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:118634246G>A	ENST00000336338.5	-	10	1407	c.1342C>T	c.(1342-1344)Cat>Tat	p.H448Y		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	448						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		AGCATACAATGCAGTATCAGG	0.383													12	17					0	0	1	0	0	A	118634246	G	A	118634246	3	1	81	1	0	0	0	0	1	0	0	0	15035	1319	46	2	5485	2	SPAG17	1	118634246	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	49729	118634246	130616375	866	4482											
SPAG17	200162	broad.mit.edu	37	1	118634612	118634612	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:118634612G>A	ENST00000336338.5	-	9	1252	c.1187C>T	c.(1186-1188)gCt>gTt	p.A396V		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	396						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		AGCTGGTACAGCAGGTTGTGG	0.463													13	236					0	0	1	0	0	A	118634612	G	A	118634612	3	1	81	1	0	0	0	0	1	0	0	0	15035	971	34	2	5644	2	SPAG17	1	118634612	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	366	118634612	130616009	867	4483											
SPAG17	200162	broad.mit.edu	37	1	118640381	118640381	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:118640381G>T	ENST00000336338.5	-	7	988	c.923C>A	c.(922-924)cCt>cAt	p.P308H		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	308						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		ATTTGTTTCAGGTTTCTCATT	0.373													6	66					0.0477658	0.0487066	1	1	0	T	118640381	G	T	118640381	3	4	81	1	0	0	0	0	1	0	0	0	15035	1000	35	4	5916	4	SPAG17	1	118640381	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	5769	118640381	130610240	868	4484											
SPAG17	200162	broad.mit.edu	37	1	118642422	118642422	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:118642422G>A	ENST00000336338.5	-	6	701	c.636C>T	c.(634-636)gaC>gaT	p.D212D		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	212						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		CTGGCTCATCGTCTGTTCAAA	0.398													19	25					0	0	1	0	0	A	118642422	G	A	118642422	5	1	81	1	0	0	0	0	0	0	1	0	15035	1159	40	1	6207	1	SPAG17	1	118642422	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2041	118642422	130608199	869	4485											
TBX15	6913	broad.mit.edu	37	1	119466177	119466177	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:119466177C>T	ENST00000369429.3	-	5	752	c.743G>A	c.(742-744)cGc>cAc	p.R248H	TBX15_ENST00000207157.3_Missense_Mutation_p.R142H			Q96SF7	TBX15_HUMAN	T-box 15	248						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.R142H(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5)	37	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)		GAAGTCTTTGCGAATCACATG	0.453													15	39					0	0	1	0	0	T	119466177	C	T	119466177	3	4	81	1	0	0	0	0	1	0	0	0	15712	768	27	1	1081	1	TBX15	1	119466177	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	823755	119466177	129784444	870	4486											
WARS2	10352	broad.mit.edu	37	1	119618995	119618996	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:119618995_119618996insT	ENST00000369426.5	-	2	328_329	c.325_326insA	c.(325-327)agcfs	p.S109fs	WARS2_ENST00000235521.4_Frame_Shift_Ins_p.S109fs|WARS2_ENST00000537870.1_Frame_Shift_Ins_p.S15fs			Q9UGM6	SYWM_HUMAN	tryptophanyl tRNA synthetase 2, mitochondrial	109					tryptophanyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|tryptophan-tRNA ligase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(2)	15	all_neural(166;0.187)	all_lung(203;2.48e-06)|Lung NSC(69;1.74e-05)|all_epithelial(167;0.000564)		Lung(183;0.0629)	L-Tryptophan(DB00150)	GAAAAGGATGCTTTTTTCCGGG	0.446													50	79	---	---	---	---						T	119618996	-	T	119618995	7	5	81	1	0	1	1	0	0	0	0	0	17310	797	28	0	805	0	WARS2	1	119618995	Frame_Shift_Ins	INS	-	TCGA-DU-6392-01A-11D-1705-08	152818	119618995	129631626	871	4487											
HSD3B1	3283	broad.mit.edu	37	1	120056731	120056731	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:120056731C>T	ENST00000235547.6	+	4	730	c.591C>T	c.(589-591)agC>agT	p.S197S	HSD3B1_ENST00000369413.3_Silent_p.S195S|HSD3B1_ENST00000528909.1_Silent_p.S195S	NM_000862.2	NP_000853.1	P14060	3BHS1_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1	195					androgen biosynthetic process|estrogen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process	integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(18)|ovary(2)|prostate(1)|skin(1)	32	all_neural(166;0.219)	all_lung(203;3.16e-06)|Lung NSC(69;2.19e-05)|all_epithelial(167;0.000624)		Lung(183;0.0106)|LUSC - Lung squamous cell carcinoma(189;0.0554)	NADH(DB00157)|Trilostane(DB01108)	GGGAAGGAAGCCGATTCCTTT	0.493													41	60					0	0	1	0	0	T	120056731	C	T	120056731	2	4	81	1	0	0	0	0	0	0	0	1	7431	738	26	2		2	HSD3B1	1	120056731	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	437736	120056731	129193890	872	4488											
PHGDH	26227	broad.mit.edu	37	1	120263907	120263907	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:120263907C>A	ENST00000369407.3	+	1	1658	c.151C>A	c.(151-153)Ctg>Atg	p.L51M	PHGDH_ENST00000369409.4_Missense_Mutation_p.L85M			O43175	SERA_HUMAN	phosphoglycerate dehydrogenase	85					brain development|L-serine biosynthetic process		electron carrier activity|NAD binding|phosphoglycerate dehydrogenase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	18	all_cancers(5;1.18e-09)|all_epithelial(5;2.16e-10)|Melanoma(3;1.93e-05)|all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0347)		Lung(183;0.0111)|LUSC - Lung squamous cell carcinoma(189;0.0593)	NADH(DB00157)	CAATGTGGATCTGGAGGCCGC	0.582													37	58					1.69901e-12	2.12611e-12	1	1	0	A	120263907	C	A	120263907	3	1	81	1	0	0	0	0	1	0	0	0	11889	912	32	4	259	4	PHGDH	1	120263907	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	207176	120263907	128986714	873	4489											
HMGCS2	3158	broad.mit.edu	37	1	120301770	120301770	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:120301770C>T	ENST00000369406.3	-	4	870	c.821G>A	c.(820-822)cGt>cAt	p.R274H	HMGCS2_ENST00000544913.2_Missense_Mutation_p.R232H|HMGCS2_ENST00000476640.1_Intron	NM_005518.3	NP_005509.1	P54868	HMCS2_HUMAN	3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial)	274					acetoacetic acid biosynthetic process|cholesterol biosynthetic process|isoprenoid biosynthetic process|ketone body biosynthetic process	mitochondrial matrix	hydroxymethylglutaryl-CoA synthase activity	p.R274H(1)		NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28	all_cancers(5;6.38e-10)|all_epithelial(5;1.1e-10)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219)	all_lung(203;1.29e-06)|Lung NSC(69;9.35e-06)|all_epithelial(167;0.00124)		Lung(183;0.0112)|LUSC - Lung squamous cell carcinoma(189;0.0595)		GATTTTTTTACGGTATGATGT	0.468													31	46					0	0	1	0	0	T	120301770	C	T	120301770	3	4	81	1	0	0	0	0	1	0	0	0	7274	536	19	1	729	1	HMGCS2	1	120301770	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	37863	120301770	128948851	874	4490											
HMGCS2	3158	broad.mit.edu	37	1	120306897	120306897	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:120306897C>A	ENST00000369406.3	-	2	506	c.457G>T	c.(457-459)Ggc>Tgc	p.G153C	HMGCS2_ENST00000544913.2_Missense_Mutation_p.G153C|HMGCS2_ENST00000476640.1_5'UTR	NM_005518.3	NP_005509.1	P54868	HMCS2_HUMAN	3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial)	153					acetoacetic acid biosynthetic process|cholesterol biosynthetic process|isoprenoid biosynthetic process|ketone body biosynthetic process	mitochondrial matrix	hydroxymethylglutaryl-CoA synthase activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28	all_cancers(5;6.38e-10)|all_epithelial(5;1.1e-10)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219)	all_lung(203;1.29e-06)|Lung NSC(69;9.35e-06)|all_epithelial(167;0.00124)		Lung(183;0.0112)|LUSC - Lung squamous cell carcinoma(189;0.0595)		TCAGTATTGCCTGAATCCTGG	0.517													11	57					4.68919e-08	5.54405e-08	1	1	0	A	120306897	C	A	120306897	3	1	81	1	0	0	0	0	1	0	0	0	7274	681	24	4	1101	4	HMGCS2	1	120306897	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	5127	120306897	128943724	875	4491											
REG4	83998	broad.mit.edu	37	1	120337242	120337242	+	Nonstop_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:120337242T>C	ENST00000354219.1	-	7	915	c.476A>G	c.(475-477)tAg>tGg	p.*159W	REG4_ENST00000530654.1_3'UTR|REG4_ENST00000256585.5_Nonstop_Mutation_p.*159W	NM_001159352.1	NP_001152824.1	Q9BYZ8	REG4_HUMAN	regenerating islet-derived family, member 4	0						extracellular region	sugar binding			central_nervous_system(1)|large_intestine(1)|lung(8)|ovary(2)|prostate(1)|skin(2)	15	all_cancers(5;4.81e-10)|all_epithelial(5;7.98e-11)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219)	all_lung(203;8.1e-07)|Lung NSC(69;5.89e-06)|all_epithelial(167;0.000959)		Lung(183;0.011)|LUSC - Lung squamous cell carcinoma(189;0.0588)		ATTCTTGCTCTATGGTCGGTA	0.438													134	153					0	0	1	0	0	C	120337242	T	C	120337242	4	2	81	1	0	0	0	0	0	0	0	0	13266	1535	53	3	4	3	REG4	1	120337242	Nonstop_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	30345	120337242	128913379	876	4492											
ADAM30	11085	broad.mit.edu	37	1	120437333	120437333	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:120437333T>C	ENST00000369400.1	-	1	1785	c.1627A>G	c.(1627-1629)Aat>Gat	p.N543D		NM_021794.3	NP_068566.2	Q9UKF2	ADA30_HUMAN	ADAM metallopeptidase domain 30	543	Cys-rich.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		TTTTTAAAATTTCGAATTCCT	0.378													6	87					0	0	1	0	0	C	120437333	T	C	120437333	3	2	81	1	0	0	0	0	1	0	0	0	247	1841	64	3	749	3	ADAM30	1	120437333	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	100091	120437333	128813288	877	4493											
ADAM30	11085	broad.mit.edu	37	1	120438116	120438116	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:120438116delT	ENST00000369400.1	-	1	1002	c.844delA	c.(844-846)agtfs	p.S282fs		NM_021794.3	NP_068566.2	Q9UKF2	ADA30_HUMAN	ADAM metallopeptidase domain 30	282	Peptidase M12B.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		TTTAATACACTTTTTTTATAT	0.343													12	61	---	---	---	---						-	120438116	T	-	120438116	7	5	81	1	0	1	0	1	0	0	0	0	247	1609	56	0	1532	0	ADAM30	1	120438116	Frame_Shift_Del	DEL	T	TCGA-DU-6392-01A-11D-1705-08	783	120438116	128812505	878	4494											
ADAM30	11085	broad.mit.edu	37	1	120438761	120438761	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:120438761G>A	ENST00000369400.1	-	1	357	c.199C>T	c.(199-201)Cag>Tag	p.Q67*		NM_021794.3	NP_068566.2	Q9UKF2	ADA30_HUMAN	ADAM metallopeptidase domain 30	67					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		CCTTTTAACTGCAGTAGGTAG	0.542													27	53					0	0	1	0	0	A	120438761	G	A	120438761	4	1	81	1	0	0	0	0	0	1	0	0	247	1328	46	2	2177	2	ADAM30	1	120438761	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	645	120438761	128811860	879	4495											
NOTCH2	4853	broad.mit.edu	37	1	120458048	120458048	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:120458048C>T	ENST00000256646.2	-	34	7516	c.7297G>A	c.(7297-7299)Gct>Act	p.A2433T		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	2433					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)		CAGTCAGAAGCAGAGTGGGGT	0.597			"N, F, Mis"		"marginal zone lymphoma, DLBCL"				Alagille Syndrome				10	87					0	0	1	0	0	T	120458048	C	T	120458048	3	4	81	1	0	0	0	0	1	0	0	0	10595	710	25	2	122	2	NOTCH2	1	120458048	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	19287	120458048	128792573	880	4496											
NOTCH2	4853	broad.mit.edu	37	1	120464876	120464876	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:120464876C>A	ENST00000256646.2	-	28	5415	c.5196G>T	c.(5194-5196)caG>caT	p.Q1732H		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	1732					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)		CCACAGCATCCTGTCCCACTG	0.468			"N, F, Mis"		"marginal zone lymphoma, DLBCL"				Alagille Syndrome				6	39					5.18039e-06	5.88187e-06	1	1	0	A	120464876	C	A	120464876	3	1	81	1	0	0	0	0	1	0	0	0	10595	680	24	4	2247	4	NOTCH2	1	120464876	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	6828	120464876	128785745	881	4497											
NOTCH2	4853	broad.mit.edu	37	1	120466300	120466300	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:120466300G>A	ENST00000256646.2	-	26	5038	c.4819C>T	c.(4819-4821)Cgc>Tgc	p.R1607C	NOTCH2_ENST00000493703.1_5'UTR	NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	1607	Negative regulatory region (NRR).				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)		AGGGATCTGCGTGTCATCCTC	0.488			"N, F, Mis"		"marginal zone lymphoma, DLBCL"				Alagille Syndrome				49	71					0	0	1	0	0	A	120466300	G	A	120466300	3	1	81	1	0	0	0	0	1	0	0	0	10595	1145	40	1	2632	1	NOTCH2	1	120466300	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1424	120466300	128784321	882	4498											
NOTCH2	4853	broad.mit.edu	37	1	120491630	120491630	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:120491630C>A	ENST00000256646.2	-	16	2818	c.2599G>T	c.(2599-2601)Ggt>Tgt	p.G867C		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	867	EGF-like 22.				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)		ATGTTCTTACCTTGCCAGCCA	0.458			"N, F, Mis"		"marginal zone lymphoma, DLBCL"				Alagille Syndrome		OREG0013733	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	19	172					1.87028e-06	2.14967e-06	1	1	0	A	120491630	C	A	120491630	5	1	81	1	0	0	0	0	0	0	1	0	10595	695	24	4	4892	4	NOTCH2	1	120491630	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	25330	120491630	128758991	883	4499											
PDE4DIP	9659	broad.mit.edu	37	1	144865846	144865846	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:144865846G>A	ENST00000369359.4	-	38	6180	c.6142C>T	c.(6142-6144)Cga>Tga	p.R2048*	PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000369356.4_Nonsense_Mutation_p.R1912*|PDE4DIP_ENST00000313382.9_Nonsense_Mutation_p.R1806*|PDE4DIP_ENST00000369354.3_Nonsense_Mutation_p.R1912*|PDE4DIP_ENST00000530740.1_Nonsense_Mutation_p.R1997*			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1912					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TGAAGTCTTCGATTGTCTTCC	0.478			T	PDGFRB	MPD								15	358					0	0	1	0	0	A	144865846	G	A	144865846	4	1	81	1	0	0	0	0	0	1	0	0	11690	1066	37	1	1346	1	PDE4DIP	1	144865846	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	24374216	144865846	104384775	884	4500											
PDE4DIP	9659	broad.mit.edu	37	1	144871767	144871767	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:144871767C>T	ENST00000369359.4	-	35	5641	c.5603G>A	c.(5602-5604)tGt>tAt	p.C1868Y	PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.C1732Y|PDE4DIP_ENST00000313382.9_Intron|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.C1732Y|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.C1817Y			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1732					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TGGTGTCTCACAGCAGCCAAG	0.577			T	PDGFRB	MPD								6	130					0	0	1	0	0	T	144871767	C	T	144871767	3	4	81	1	0	0	0	0	1	0	0	0	11690	478	17	2	1897	2	PDE4DIP	1	144871767	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	5921	144871767	104378854	885	4501											
PDE4DIP	9659	broad.mit.edu	37	1	144871856	144871856	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:144871856C>A	ENST00000369359.4	-	35	5552	c.5514G>T	c.(5512-5514)aaG>aaT	p.K1838N	PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.K1702N|PDE4DIP_ENST00000313382.9_Intron|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.K1702N|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.K1787N			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1702					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		GGCTAGCCAGCTTGGGTATGG	0.488			T	PDGFRB	MPD								26	70					4.72057e-08	5.5797e-08	1	1	0	A	144871856	C	A	144871856	3	1	81	1	0	0	0	0	1	0	0	0	11690	796	28	4	1986	4	PDE4DIP	1	144871856	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	89	144871856	104378765	886	4502											
PDE4DIP	9659	broad.mit.edu	37	1	144904624	144904624	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:144904624C>A	ENST00000529945.1	-	16	3616		c.e16+1		PDE4DIP_ENST00000524974.1_Intron|PDE4DIP_ENST00000313431.9_Splice_Site|PDE4DIP_ENST00000369356.4_Splice_Site|PDE4DIP_ENST00000313382.9_Splice_Site|PDE4DIP_ENST00000479408.2_Splice_Site|PDE4DIP_ENST00000369349.3_Splice_Site|PDE4DIP_ENST00000369354.3_Splice_Site|PDE4DIP_ENST00000530740.1_Splice_Site|PDE4DIP_ENST00000369351.3_Splice_Site|PDE4DIP_ENST00000369359.4_Splice_Site			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein						cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		CTCTCTCTTACCTCTCTGGAT	0.373			T	PDGFRB	MPD								9	194					0.00448238	0.00470627	1	1	0	A	144904624	C	A	144904624	5	1	81	1	0	0	0	0	0	0	1	0	11690	521	18	5	4462	5	PDE4DIP	1	144904624	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	32768	144904624	104345997	887	4503											
PDE4DIP	9659	broad.mit.edu	37	1	144906421	144906421	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:144906421C>A	ENST00000529945.1	-	14	3364	c.2925G>T	c.(2923-2925)aaG>aaT	p.K975N	PDE4DIP_ENST00000524974.1_Intron|PDE4DIP_ENST00000313431.9_Splice_Site_p.K975N|PDE4DIP_ENST00000369356.4_Splice_Site_p.K812N|PDE4DIP_ENST00000313382.9_Splice_Site_p.K878N|PDE4DIP_ENST00000479408.2_Splice_Site_p.K599N|PDE4DIP_ENST00000369349.3_Splice_Site_p.K812N|PDE4DIP_ENST00000369354.3_Splice_Site_p.K812N|PDE4DIP_ENST00000530740.1_Splice_Site_p.K949N|PDE4DIP_ENST00000369351.3_Splice_Site_p.K812N|PDE4DIP_ENST00000369359.4_Splice_Site_p.K949N			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	812					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TTTGAAAGACCTTTATGAGAT	0.443			T	PDGFRB	MPD								6	160					3.59834e-05	3.99423e-05	1	1	0	A	144906421	C	A	144906421	5	1	81	1	0	0	0	0	0	0	1	0	11690	695	24	4	4722	4	PDE4DIP	1	144906421	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1797	144906421	104344200	888	4504	15	2									
PDE4DIP	9659	broad.mit.edu	37	1	144906428	144906428	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:144906428A>T	ENST00000529945.1	-	14	3357	c.2918T>A	c.(2917-2919)cTc>cAc	p.L973H	PDE4DIP_ENST00000524974.1_Intron|PDE4DIP_ENST00000313431.9_Missense_Mutation_p.L973H|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.L810H|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.L876H|PDE4DIP_ENST00000479408.2_Missense_Mutation_p.L597H|PDE4DIP_ENST00000369349.3_Missense_Mutation_p.L810H|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.L810H|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.L947H|PDE4DIP_ENST00000369351.3_Missense_Mutation_p.L810H|PDE4DIP_ENST00000369359.4_Missense_Mutation_p.L947H			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	810					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		GACCTTTATGAGATCTTCTTT	0.443			T	PDGFRB	MPD								25	147					0	0	1	0	0	T	144906428	A	T	144906428	3	4	81	1	0	0	0	0	1	0	0	0	11690	304	11	5	4729	5	PDE4DIP	1	144906428	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	7	144906428	104344193	889	4505	15	2									
PDE4DIP	9659	broad.mit.edu	37	1	144918898	144918898	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:144918898G>A	ENST00000529945.1	-	6	2216	c.1777C>T	c.(1777-1779)Cga>Tga	p.R593*	PDE4DIP_ENST00000313431.9_Nonsense_Mutation_p.R593*|PDE4DIP_ENST00000369356.4_Nonsense_Mutation_p.R430*|PDE4DIP_ENST00000313382.9_Nonsense_Mutation_p.R496*|PDE4DIP_ENST00000479408.2_Nonsense_Mutation_p.R217*|PDE4DIP_ENST00000369349.3_Nonsense_Mutation_p.R430*|PDE4DIP_ENST00000369354.3_Nonsense_Mutation_p.R430*|PDE4DIP_ENST00000530740.1_Nonsense_Mutation_p.R567*|PDE4DIP_ENST00000369351.3_Nonsense_Mutation_p.R430*|PDE4DIP_ENST00000369359.4_Nonsense_Mutation_p.R567*			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	430					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TCCTGGGTTCGAATCTCATTG	0.438			T	PDGFRB	MPD								32	664					0	0	1	0	0	A	144918898	G	A	144918898	4	1	81	1	0	0	0	0	0	1	0	0	11690	1066	37	1	5902	1	PDE4DIP	1	144918898	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	12470	144918898	104331723	890	4506											
PDE4DIP	9659	broad.mit.edu	37	1	144930903	144930903	+	Missense_Mutation	SNP	C	C	T	rs139265814		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:144930903C>T	ENST00000529945.1	-	1	1245	c.806G>A	c.(805-807)gGa>gAa	p.G269E	PDE4DIP_ENST00000313431.9_Missense_Mutation_p.G269E|PDE4DIP_ENST00000369356.4_Intron|PDE4DIP_ENST00000313382.9_Intron|PDE4DIP_ENST00000479408.2_Intron|PDE4DIP_ENST00000369349.3_Intron|PDE4DIP_ENST00000369354.3_Intron|PDE4DIP_ENST00000530740.1_Intron|PDE4DIP_ENST00000369351.3_Intron|PDE4DIP_ENST00000369359.4_Intron			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1472					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		GTCACACTTTCCAAGTTCCTT	0.478			T	PDGFRB	MPD								12	144					0	0	1	0	0	T	144930903	C	T	144930903	3	4	81	1	0	0	0	0	1	0	0	0	11690	855	30	2	6893	2	PDE4DIP	1	144930903	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	12005	144930903	104319718	891	4507											
PDE4DIP	9659	broad.mit.edu	37	1	144931569	144931569	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:144931569G>A	ENST00000529945.1	-	1	579	c.140C>T	c.(139-141)gCc>gTc	p.A47V	PDE4DIP_ENST00000313431.9_Missense_Mutation_p.A47V|PDE4DIP_ENST00000369356.4_Intron|PDE4DIP_ENST00000313382.9_Intron|PDE4DIP_ENST00000479408.2_Intron|PDE4DIP_ENST00000369349.3_Intron|PDE4DIP_ENST00000369354.3_Intron|PDE4DIP_ENST00000530740.1_Intron|PDE4DIP_ENST00000369351.3_Intron|PDE4DIP_ENST00000369359.4_Intron			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	0					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		AGCGAACTCGGCTTTGCCATC	0.537			T	PDGFRB	MPD								11	81					0	0	1	0	0	A	144931569	G	A	144931569	3	1	81	1	0	0	0	0	1	0	0	0	11690	1203	42	2	7559	2	PDE4DIP	1	144931569	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	666	144931569	104319052	892	4508											
SEC22B	9554	broad.mit.edu	37	1	145115738	145115738	+	RNA	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:145115738T>C	ENST00000453618.1	+	0	824							O75396	SC22B_HUMAN	SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)						ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome	protein binding										TTGACAGCATTGGATTCAAAG	0.388													12	167					0	0	1	0	0	C	145115738	T	C	145115738	1	2	81	0	1	0	0	0	0	0	0	0	14043	1821	63	3		3	SEC22B	1	145115738	RNA	SNP	T	TCGA-DU-6392-01A-11D-1705-08	184169	145115738	104134883	893	4509											
TXNIP	10628	broad.mit.edu	37	1	145440773	145440773	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:145440773C>A	ENST00000369317.4	+	6	1307	c.973C>A	c.(973-975)Cct>Act	p.P325T	TXNIP_ENST00000475171.1_Intron	NM_006472.3	NP_006463.3	Q9H3M7	TXNIP_HUMAN	thioredoxin interacting protein	325					cell cycle|keratinocyte differentiation|transcription, DNA-dependent		ubiquitin protein ligase binding			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	21	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TCTGAACATCCCTGATACCCC	0.498													5	93					0.000602214	0.000646338	1	1	0	A	145440773	C	A	145440773	3	1	81	1	0	0	0	0	1	0	0	0	16865	623	22	5	995	5	TXNIP	1	145440773	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	325035	145440773	103809848	894	4510											
TXNIP	10628	broad.mit.edu	37	1	145441193	145441193	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:145441193G>A	ENST00000369317.4	+	8	1485	c.1151G>A	c.(1150-1152)tGc>tAc	p.C384Y	TXNIP_ENST00000475171.1_3'UTR	NM_006472.3	NP_006463.3	Q9H3M7	TXNIP_HUMAN	thioredoxin interacting protein	384					cell cycle|keratinocyte differentiation|transcription, DNA-dependent		ubiquitin protein ligase binding			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	21	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GTGGATCCCTGCATCCTCAAC	0.383													9	41					0	0	1	0	0	A	145441193	G	A	145441193	3	1	81	1	0	0	0	0	1	0	0	0	16865	1319	46	2	1181	2	TXNIP	1	145441193	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	420	145441193	103809428	895	4511											
ITGA10	8515	broad.mit.edu	37	1	145527702	145527702	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:145527702C>T	ENST00000369304.3	+	2	317	c.142C>T	c.(142-144)Cat>Tat	p.H48Y	ITGA10_ENST00000538811.1_Silent_p.N22N|ITGA10_ENST00000539363.1_Intron	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN	integrin, alpha 10	48					cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity			NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TGTCTTACAACATGTTGGGGG	0.537													41	39					0	0	1	0	0	T	145527702	C	T	145527702	3	4	81	1	0	0	0	0	1	0	0	0	7917	478	17	2	148	2	ITGA10	1	145527702	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	86509	145527702	103722919	896	4512											
ITGA10	8515	broad.mit.edu	37	1	145533899	145533899	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:145533899G>T	ENST00000369304.3	+	13	1720	c.1545G>T	c.(1543-1545)caG>caT	p.Q515H	ITGA10_ENST00000538811.1_Missense_Mutation_p.Q384H|ITGA10_ENST00000539363.1_Missense_Mutation_p.Q372H	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN	integrin, alpha 10	515					cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity			NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TGGGACCCCAGAACAAGGAAA	0.532													16	34					3.45872e-05	3.85959e-05	1	1	0	T	145533899	G	T	145533899	3	4	81	1	0	0	0	0	1	0	0	0	7917	933	33	4	1595	4	ITGA10	1	145533899	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	6197	145533899	103716722	897	4513											
POLR3C	10623	broad.mit.edu	37	1	145595181	145595181	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:145595181A>C	ENST00000334163.3	-	12	1421	c.1261T>G	c.(1261-1263)Ttc>Gtc	p.F421V	POLR3C_ENST00000369294.1_Intron	NM_006468.6	NP_006459.3	Q9BUI4	RPC3_HUMAN	polymerase (RNA) III (DNA directed) polypeptide C (62kD)	421					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|regulation of transcription from RNA polymerase III promoter|response to virus	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity			breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		Epithelial(2;7.55e-13)			TATAAATAGAAGGTCCTGGAT	0.423													14	146					0	0	1	0	0	C	145595181	A	C	145595181	3	2	81	1	0	0	0	0	1	0	0	0	12278	72	3	5	359	5	POLR3C	1	145595181	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	61282	145595181	103655440	898	4514											
GPR89A	653519	broad.mit.edu	37	1	145765405	145765405	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:145765405G>T	ENST00000313835.9	-	13	1268	c.1125C>A	c.(1123-1125)tcC>tcA	p.S375S	GPR89A_ENST00000462900.2_Silent_p.S350S|GPR89A_ENST00000534502.1_Silent_p.S350S|GPR89A_ENST00000454423.3_Silent_p.S255S			B7ZAQ6	GPHRA_HUMAN	G protein-coupled receptor 89A	375					intracellular pH reduction|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein transport	Golgi cisterna membrane|Golgi-associated vesicle membrane|integral to membrane	signal transducer activity|voltage-gated anion channel activity			breast(1)|large_intestine(3)|lung(1)|skin(1)	6	all_hematologic(18;0.00473)|Acute lymphoblastic leukemia(18;0.0786)		KIRC - Kidney renal clear cell carcinoma(6;0.0764)|Kidney(552;0.118)|Colorectal(543;0.229)			TGACATTGGAGGACTTACTGC	0.348													75	233					3.27475e-32	4.37341e-32	1	1	0	T	145765405	G	T	145765405	2	4	81	1	0	0	0	0	0	0	0	1	6758	987	35	4		4	GPR89A	1	145765405	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	170224	145765405	103485216	899	4515											
CHD1L	9557	broad.mit.edu	37	1	146736231	146736231	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:146736231G>T	ENST00000369258.4	+	7	747	c.727G>T	c.(727-729)Gaa>Taa	p.E243*	CHD1L_ENST00000467213.1_3'UTR|CHD1L_ENST00000431239.1_Nonsense_Mutation_p.E243*|CHD1L_ENST00000361293.5_Intron|CHD1L_ENST00000369259.3_Intron	NM_001256336.1|NM_004284.4|NM_024568.2	NP_001243265.1|NP_004275.4|NP_078844.2	Q86WJ1	CHD1L_HUMAN	chromodomain helicase DNA binding protein 1-like	243					chromatin remodeling|DNA repair	cytoplasm|nucleus|plasma membrane	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(923;0.0487)					TATTGAGAAAGAATCTGAGTC	0.453													24	52					2.79863e-10	3.42042e-10	1	1	0	T	146736231	G	T	146736231	4	4	81	1	0	0	0	0	0	1	0	0	3346	943	33	4	753	4	CHD1L	1	146736231	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	970826	146736231	102514390	900	4516											
CHD1L	9557	broad.mit.edu	37	1	146739147	146739147	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:146739147A>C	ENST00000369258.4	+	9	978	c.958A>C	c.(958-960)Aag>Cag	p.K320Q	CHD1L_ENST00000467213.1_3'UTR|CHD1L_ENST00000431239.1_Missense_Mutation_p.K320Q|CHD1L_ENST00000361293.5_Missense_Mutation_p.K39Q|CHD1L_ENST00000369259.3_Missense_Mutation_p.K116Q	NM_001256336.1|NM_004284.4|NM_024568.2	NP_001243265.1|NP_004275.4|NP_078844.2	Q86WJ1	CHD1L_HUMAN	chromodomain helicase DNA binding protein 1-like	320					chromatin remodeling|DNA repair	cytoplasm|nucleus|plasma membrane	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(923;0.0487)					CCAGCTTCGAAAGTGTGTGGA	0.373													7	45					0	0	1	0	0	C	146739147	A	C	146739147	3	2	81	1	0	0	0	0	1	0	0	0	3346	15	1	5	992	5	CHD1L	1	146739147	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	2916	146739147	102511474	901	4517											
BCL9	607	broad.mit.edu	37	1	147090775	147090775	+	Missense_Mutation	SNP	C	C	T	rs143556015	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:147090775C>T	ENST00000234739.3	+	8	1554	c.814C>T	c.(814-816)Cgt>Tgt	p.R272C		NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	272	Pro-rich.				Wnt receptor signaling pathway	nucleus	protein binding			breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					CGCACCCCCACGTCCCCTGGA	0.612			T	"IGH@, IGL@"	B-ALL								11	34					0	0	1	0	0	T	147090775	C	T	147090775	3	4	81	1	0	0	0	0	1	0	0	0	1379	536	19	1	832	1	BCL9	1	147090775	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	351628	147090775	102159846	902	4518											
GJA8	2703	broad.mit.edu	37	1	147380253	147380253	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:147380253G>A	ENST00000240986.4	+	2	224	c.171G>A	c.(169-171)caG>caA	p.Q57Q	GJA8_ENST00000369235.1_Silent_p.Q57Q	NM_005267.4	NP_005258.2	P48165	CXA8_HUMAN	gap junction protein, alpha 8, 50kDa	57					cell communication|visual perception	connexon complex|integral to plasma membrane	channel activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37	all_hematologic(923;0.0276)					GCAACACCCAGCAGCCTGGCT	0.597													30	29					0	0	1	0	0	A	147380253	G	A	147380253	2	1	81	1	0	0	0	0	0	0	0	1	6447	962	34	2		2	GJA8	1	147380253	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	289478	147380253	101870368	903	4519											
GJA8	2703	broad.mit.edu	37	1	147380559	147380559	+	Silent	SNP	C	C	T	rs144568061		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:147380559C>T	ENST00000240986.4	+	2	530	c.477C>T	c.(475-477)acC>acT	p.T159T	GJA8_ENST00000369235.1_Silent_p.T159T	NM_005267.4	NP_005258.2	P48165	CXA8_HUMAN	gap junction protein, alpha 8, 50kDa	159					cell communication|visual perception	connexon complex|integral to plasma membrane	channel activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37	all_hematologic(923;0.0276)					TCTTCAAGACCCTCTTTGAAG	0.597													62	77					0	0	1	0	0	T	147380559	C	T	147380559	2	4	81	1	0	0	0	0	0	0	0	1	6447	610	22	2		2	GJA8	1	147380559	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	306	147380559	101870062	904	4520											
GPR89B	51463	broad.mit.edu	37	1	147408777	147408777	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:147408777C>T	ENST00000314163.7	+	2	223	c.79C>T	c.(79-81)Cgc>Tgc	p.R27C		NM_016334.3	NP_057418.1	B7ZAQ6	GPHRA_HUMAN	G protein-coupled receptor 89B	27					intracellular pH reduction|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein transport	Golgi cisterna membrane|Golgi-associated vesicle membrane|integral to membrane	signal transducer activity|voltage-gated anion channel activity			large_intestine(1)	1	all_hematologic(923;0.0276)					TTTCTTCATGCGCCAATTGTT	0.299													48	55					0	0	1	0	0	T	147408777	C	T	147408777	3	4	81	1	0	0	0	0	1	0	0	0	6759	768	27	1	85	1	GPR89B	1	147408777	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	28218	147408777	101841844	905	4521											
NBPF14	25832	broad.mit.edu	37	1	148025802	148025802	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:148025802C>A	ENST00000369219.1	-	1	46	c.30G>T	c.(28-30)gaG>gaT	p.E10D				Q5TI25	NBPFE_HUMAN	neuroblastoma breakpoint family, member 14	10						cytoplasm				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(23)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	42	all_hematologic(923;0.032)					CAAGCTTCTCCTCCTTGAACT	0.522													10	290					0.000566183	0.000611251	1	1	0	A	148025802	C	A	148025802	3	1	81	1	0	0	0	0	1	0	0	0	10242	680	24	4	2823	4	NBPF14	1	148025802	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	617025	148025802	101224819	906	4522											
NBPF15	284565	broad.mit.edu	37	1	148594505	148594505	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:148594505G>T	ENST00000442702.2	+	21	2945	c.1878G>T	c.(1876-1878)caG>caT	p.Q626H	NBPF15_ENST00000369187.3_Missense_Mutation_p.Q626H	NM_001170755.1	NP_001164226.1	Q8N660	NBPFF_HUMAN	neuroblastoma breakpoint family, member 15	626	NBPF 6.					cytoplasm				NS(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)	12	all_hematologic(923;0.032)					ACTCATTCCAGCACTACAGAA	0.448													171	293					2.65309e-104	3.57799e-104	1	1	0	T	148594505	G	T	148594505	3	4	81	1	0	0	0	0	1	0	0	0	10243	962	34	4	1936	4	NBPF15	1	148594505	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	568703	148594505	100656116	907	4523											
SV2A	9900	broad.mit.edu	37	1	149877520	149877520	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:149877520C>T	ENST00000369146.3	-	12	2447	c.1957G>A	c.(1957-1959)Gct>Act	p.A653T	SV2A_ENST00000369145.1_Missense_Mutation_p.A653T	NM_001278719.1|NM_014849.3	NP_001265648.1|NP_055664.3	Q7L0J3	SV2A_HUMAN	synaptic vesicle glycoprotein 2A	653					neurotransmitter transport	cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2)	55	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		Levetiracetam(DB01202)	CAGAGCAGAGCGATCATGGCC	0.547													29	80					0	0	1	0	0	T	149877520	C	T	149877520	3	4	81	1	0	0	0	0	1	0	0	0	15473	768	27	1	279	1	SV2A	1	149877520	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1283015	149877520	99373101	908	4524											
SV2A	9900	broad.mit.edu	37	1	149880744	149880744	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:149880744C>A	ENST00000369146.3	-	8	1869	c.1379G>T	c.(1378-1380)aGc>aTc	p.S460I	SV2A_ENST00000369145.1_Splice_Site_p.S460I	NM_001278719.1|NM_014849.3	NP_001265648.1|NP_055664.3	Q7L0J3	SV2A_HUMAN	synaptic vesicle glycoprotein 2A	460					neurotransmitter transport	cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2)	55	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		Levetiracetam(DB01202)	ATCTCCTCACCTGAATGACAT	0.557													5	45					0.217242	0.218703	1	1	0	A	149880744	C	A	149880744	5	1	81	1	0	0	0	0	0	0	1	0	15473	695	24	4	873	4	SV2A	1	149880744	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3224	149880744	99369877	909	4525											
MTMR11	10903	broad.mit.edu	37	1	149903850	149903850	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:149903850G>T	ENST00000439741.2	-	12	1359	c.1109C>A	c.(1108-1110)tCt>tAt	p.S370Y	MTMR11_ENST00000492824.1_5'UTR|MTMR11_ENST00000406732.3_Missense_Mutation_p.S342Y|MTMR11_ENST00000361405.6_Intron|MTMR11_ENST00000369140.3_Missense_Mutation_p.S298Y	NM_001145862.1	NP_001139334.1	A4FU01	MTMRB_HUMAN	myotubularin related protein 11	370	Myotubularin phosphatase.						phosphatase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(13)|prostate(2)|stomach(1)|urinary_tract(4)	34	Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)			AAGTATTACAGAACGAACCCT	0.478													7	16					1.06961e-07	1.25755e-07	1	1	0	T	149903850	G	T	149903850	3	4	81	1	0	0	0	0	1	0	0	0	9988	942	33	4	1083	4	MTMR11	1	149903850	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	23106	149903850	99346771	910	4526											
MTMR11	10903	broad.mit.edu	37	1	149905806	149905806	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:149905806C>T	ENST00000439741.2	-	8	963	c.713G>A	c.(712-714)cGa>cAa	p.R238Q	MTMR11_ENST00000492824.1_5'UTR|MTMR11_ENST00000406732.3_Missense_Mutation_p.R210Q|MTMR11_ENST00000361405.6_Intron|MTMR11_ENST00000369140.3_Missense_Mutation_p.R166Q	NM_001145862.1	NP_001139334.1	A4FU01	MTMRB_HUMAN	myotubularin related protein 11	238	Myotubularin phosphatase.						phosphatase activity	p.R238Q(2)|p.R166Q(2)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(13)|prostate(2)|stomach(1)|urinary_tract(4)	34	Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)			GTCCAGAATTCGGTTAGGGAC	0.483													44	95					0	0	1	0	0	T	149905806	C	T	149905806	3	4	81	1	0	0	0	0	1	0	0	0	9988	884	31	1	1495	1	MTMR11	1	149905806	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1956	149905806	99344815	911	4527											
VPS45	11311	broad.mit.edu	37	1	150040755	150040755	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:150040755C>T	ENST00000369130.3	+	2	708	c.162C>T	c.(160-162)cgC>cgT	p.R54R	VPS45_ENST00000535106.1_Silent_p.R54R|VPS45_ENST00000369128.5_Silent_p.R18R	NM_001279354.1|NM_007259.3	NP_001266283.1|NP_009190.2	Q9NRW7	VPS45_HUMAN	vacuolar protein sorting 45 homolog (S. cerevisiae)	54					blood coagulation|intracellular protein transport|vesicle docking involved in exocytosis	endosome membrane|Golgi membrane|integral to membrane of membrane fraction				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	21	Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			TCTTTGAACGCATTGATTCTC	0.398													15	97					0	0	1	0	0	T	150040755	C	T	150040755	2	4	81	1	0	0	0	0	0	0	0	1	17271	697	25	2		2	VPS45	1	150040755	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	134949	150040755	99209866	912	4528											
VPS45	11311	broad.mit.edu	37	1	150048339	150048339	+	Silent	SNP	C	C	T	rs150076399	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:150048339C>T	ENST00000369130.3	+	4	864	c.318C>T	c.(316-318)gaC>gaT	p.D106D	VPS45_ENST00000535106.1_Silent_p.D106D|VPS45_ENST00000369128.5_Silent_p.D70D	NM_001279354.1|NM_007259.3	NP_001266283.1|NP_009190.2	Q9NRW7	VPS45_HUMAN	vacuolar protein sorting 45 homolog (S. cerevisiae)	106					blood coagulation|intracellular protein transport|vesicle docking involved in exocytosis	endosome membrane|Golgi membrane|integral to membrane of membrane fraction				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	21	Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			GCAAGAGTGACGTGAAGTCAT	0.413													29	52					0	0	1	0	0	T	150048339	C	T	150048339	2	4	81	1	0	0	0	0	0	0	0	1	17271	535	19	1		1	VPS45	1	150048339	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	7584	150048339	99202282	913	4529											
VPS45	11311	broad.mit.edu	37	1	150082692	150082692	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:150082692T>C	ENST00000369130.3	+	14	2121	c.1575T>C	c.(1573-1575)acT>acC	p.T525T	VPS45_ENST00000484306.1_3'UTR|VPS45_ENST00000369128.5_Silent_p.T420T|VPS45_ENST00000535106.1_3'UTR	NM_001279354.1|NM_007259.3	NP_001266283.1|NP_009190.2	Q9NRW7	VPS45_HUMAN	vacuolar protein sorting 45 homolog (S. cerevisiae)	525					blood coagulation|intracellular protein transport|vesicle docking involved in exocytosis	endosome membrane|Golgi membrane|integral to membrane of membrane fraction				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	21	Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			ACCGCACCACTCCTGGAGTGA	0.443													3	52					0	0	1	0	0	C	150082692	T	C	150082692	2	2	81	1	0	0	0	0	0	0	0	1	17271	1538	54	3		3	VPS45	1	150082692	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	34353	150082692	99167929	914	4530											
PLEKHO1	51177	broad.mit.edu	37	1	150128391	150128391	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:150128391C>T	ENST00000369124.4	+	3	587	c.309C>T	c.(307-309)ccC>ccT	p.P103P	PLEKHO1_ENST00000369126.1_5'UTR|PLEKHO1_ENST00000025469.6_Silent_p.P103P|PLEKHO1_ENST00000479194.1_3'UTR	NM_016274.4	NP_057358.2	Q53GL0	PKHO1_HUMAN	pleckstrin homology domain containing, family O member 1	103	PH.					cytoplasm|nucleus|plasma membrane				breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|skin(2)	22	Lung NSC(24;7.78e-28)|Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			CCAAACAGCCCGGTAACACGG	0.527													32	41					0	0	1	0	0	T	150128391	C	T	150128391	2	4	81	1	0	0	0	0	0	0	0	1	12132	639	23	1		1	PLEKHO1	1	150128391	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	45699	150128391	99122230	915	4531											
PLEKHO1	51177	broad.mit.edu	37	1	150131488	150131488	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:150131488C>T	ENST00000369124.4	+	6	1278	c.1000C>T	c.(1000-1002)Cga>Tga	p.R334*	PLEKHO1_ENST00000369126.1_Nonsense_Mutation_p.R151*|PLEKHO1_ENST00000025469.6_Nonsense_Mutation_p.R300*	NM_016274.4	NP_057358.2	Q53GL0	PKHO1_HUMAN	pleckstrin homology domain containing, family O member 1	334	Negative regulator of AP-1 activity.					cytoplasm|nucleus|plasma membrane				breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|skin(2)	22	Lung NSC(24;7.78e-28)|Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			AGATGGGAAGCGAAAGGCCAA	0.617													23	57					0	0	1	0	0	T	150131488	C	T	150131488	4	4	81	1	0	0	0	0	0	1	0	0	12132	760	27	1	1022	1	PLEKHO1	1	150131488	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3097	150131488	99119133	916	4532											
RPRD2	23248	broad.mit.edu	37	1	150337373	150337373	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:150337373T>G	ENST00000401000.4	+	1	248	c.183T>G	c.(181-183)caT>caG	p.H61Q	RPRD2_ENST00000369068.4_Missense_Mutation_p.H61Q|RPRD2_ENST00000539519.1_Missense_Mutation_p.H61Q|RPRD2_ENST00000369067.3_Missense_Mutation_p.H61Q|RPRD2_ENST00000492220.1_Intron			Q5VT52	RPRD2_HUMAN	regulation of nuclear pre-mRNA domain containing 2	61	CID.						protein binding			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						TCGTCTATCATTGGATGAAGT	0.483													4	48					0	0	1	0	0	G	150337373	T	G	150337373	3	3	81	1	0	0	0	0	1	0	0	0	13669	1490	52	4	185	4	RPRD2	1	150337373	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	205885	150337373	98913248	917	4533											
RPRD2	23248	broad.mit.edu	37	1	150443996	150443996	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:150443996C>A	ENST00000401000.4	+	10	2559	c.2494C>A	c.(2494-2496)Ctg>Atg	p.L832M	RPRD2_ENST00000369068.4_Missense_Mutation_p.L858M|RPRD2_ENST00000539519.1_Missense_Mutation_p.L832M|RPRD2_ENST00000492220.1_3'UTR			Q5VT52	RPRD2_HUMAN	regulation of nuclear pre-mRNA domain containing 2	858	Ser-rich.						protein binding			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						CAAATCTATCCTGAAATCAAG	0.468													25	32					2.48779e-11	3.08063e-11	1	1	0	A	150443996	C	A	150443996	3	1	81	1	0	0	0	0	1	0	0	0	13669	680	24	4	2614	4	RPRD2	1	150443996	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	106623	150443996	98806625	918	4534											
RPRD2	23248	broad.mit.edu	37	1	150444346	150444346	+	Silent	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:150444346T>G	ENST00000401000.4	+	10	2909	c.2844T>G	c.(2842-2844)ctT>ctG	p.L948L	RPRD2_ENST00000369068.4_Silent_p.L974L|RPRD2_ENST00000539519.1_Intron|RPRD2_ENST00000492220.1_3'UTR			Q5VT52	RPRD2_HUMAN	regulation of nuclear pre-mRNA domain containing 2	974	Ser-rich.						protein binding			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						ATCGTTCCCTTTTCTCTCCGC	0.567													107	251					0	0	1	0	0	G	150444346	T	G	150444346	2	3	81	1	0	0	0	0	0	0	0	1	13669	1828	64	5		5	RPRD2	1	150444346	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	350	150444346	98806275	919	4535											
RPRD2	23248	broad.mit.edu	37	1	150445293	150445293	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:150445293C>T	ENST00000401000.4	+	10	3856	c.3791C>T	c.(3790-3792)tCt>tTt	p.S1264F	RPRD2_ENST00000369068.4_Missense_Mutation_p.S1290F|RPRD2_ENST00000492220.1_3'UTR			Q5VT52	RPRD2_HUMAN	regulation of nuclear pre-mRNA domain containing 2	1290	Pro-rich.						protein binding			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						GTCCCCTTTTCTACTCCACCC	0.622													4	26					0	0	1	0	0	T	150445293	C	T	150445293	3	4	81	1	0	0	0	0	1	0	0	0	13669	913	32	2	3911	2	RPRD2	1	150445293	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	947	150445293	98805328	920	4536											
RPRD2	23248	broad.mit.edu	37	1	150445743	150445743	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:150445743G>T	ENST00000401000.4	+	10	4306	c.4241G>T	c.(4240-4242)aGg>aTg	p.R1414M	RPRD2_ENST00000369068.4_Missense_Mutation_p.R1440M|RPRD2_ENST00000492220.1_3'UTR			Q5VT52	RPRD2_HUMAN	regulation of nuclear pre-mRNA domain containing 2	1440	Pro-rich.						protein binding			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						AAGAGACCCAGGCCACCTTTT	0.517													21	78					6.33239e-15	8.06005e-15	1	1	0	T	150445743	G	T	150445743	3	4	81	1	0	0	0	0	1	0	0	0	13669	1000	35	4	4361	4	RPRD2	1	150445743	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	450	150445743	98804878	921	4537											
TARS2	80222	broad.mit.edu	37	1	150469060	150469060	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:150469060T>C	ENST00000369064.3	+	8	911	c.877T>C	c.(877-879)Tgg>Cgg	p.W293R	TARS2_ENST00000369054.2_Intron|TARS2_ENST00000606933.1_Intron|TARS2_ENST00000463555.1_Intron|TARS2_ENST00000438568.2_3'UTR	NM_025150.3	NP_079426.2	Q9BW92	SYTM_HUMAN	threonyl-tRNA synthetase 2, mitochondrial (putative)	293					threonyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|threonine-tRNA ligase activity			cervix(1)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	35	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		L-Threonine(DB00156)	CTGGGAAGCATGGAGGGAGGA	0.542													69	62					0	0	1	0	0	C	150469060	T	C	150469060	3	2	81	1	0	0	0	0	1	0	0	0	15617	1464	51	3	907	3	TARS2	1	150469060	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	23317	150469060	98781561	922	4538											
ADAMTSL4	54507	broad.mit.edu	37	1	150525644	150525644	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:150525644C>T	ENST00000271643.4	+	5	585	c.349C>T	c.(349-351)Cag>Tag	p.Q117*	RP11-54A4.2_ENST00000442435.2_RNA|ADAMTSL4_ENST00000369041.5_Nonsense_Mutation_p.Q117*|ADAMTSL4_ENST00000369039.5_Nonsense_Mutation_p.Q117*|ADAMTSL4_ENST00000369038.2_Nonsense_Mutation_p.Q117*	NM_019032.4	NP_061905.2	Q6UY14	ATL4_HUMAN	ADAMTS-like 4	117					apoptosis|positive regulation of apoptosis		metalloendopeptidase activity|protease binding			breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			GTACAGGACACAGTCTCGGGG	0.667													30	49					0	0	1	0	0	T	150525644	C	T	150525644	4	4	81	1	0	0	0	0	0	1	0	0	276	479	17	2	359	2	ADAMTSL4	1	150525644	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	56584	150525644	98724977	923	4539											
ADAMTSL4	54507	broad.mit.edu	37	1	150525680	150525680	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:150525680G>A	ENST00000271643.4	+	5	621	c.385G>A	c.(385-387)Gct>Act	p.A129T	RP11-54A4.2_ENST00000442435.2_RNA|ADAMTSL4_ENST00000369041.5_Missense_Mutation_p.A129T|ADAMTSL4_ENST00000369039.5_Missense_Mutation_p.A129T|ADAMTSL4_ENST00000369038.2_Missense_Mutation_p.A129T	NM_019032.4	NP_061905.2	Q6UY14	ATL4_HUMAN	ADAMTS-like 4	129					apoptosis|positive regulation of apoptosis		metalloendopeptidase activity|protease binding			breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			TCGAGGTCCCGCTTCCCACCT	0.662													23	41					0	0	1	0	0	A	150525680	G	A	150525680	3	1	81	1	0	0	0	0	1	0	0	0	276	1087	38	1	395	1	ADAMTSL4	1	150525680	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	36	150525680	98724941	924	4540											
ADAMTSL4	54507	broad.mit.edu	37	1	150526083	150526083	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:150526083G>A	ENST00000271643.4	+	6	852	c.616G>A	c.(616-618)Gca>Aca	p.A206T	RP11-54A4.2_ENST00000442435.2_RNA|ADAMTSL4_ENST00000369041.5_Missense_Mutation_p.A206T|ADAMTSL4_ENST00000369039.5_Missense_Mutation_p.A206T|ADAMTSL4_ENST00000369038.2_Missense_Mutation_p.A206T	NM_019032.4	NP_061905.2	Q6UY14	ATL4_HUMAN	ADAMTS-like 4	206					apoptosis|positive regulation of apoptosis		metalloendopeptidase activity|protease binding			breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			GCCATTCTCCGCAAACGGCAG	0.587													20	51					0	0	1	0	0	A	150526083	G	A	150526083	3	1	81	1	0	0	0	0	1	0	0	0	276	1087	38	1	630	1	ADAMTSL4	1	150526083	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	403	150526083	98724538	925	4541											
ENSA	2029	broad.mit.edu	37	1	150599945	150599945	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:150599945C>A	ENST00000271690.8	-	2	287	c.181G>T	c.(181-183)Ggg>Tgg	p.G61W	ENSA_ENST00000362052.7_Missense_Mutation_p.G61W|ENSA_ENST00000361631.5_Missense_Mutation_p.G57W|ENSA_ENST00000339643.5_Missense_Mutation_p.G61W|ENSA_ENST00000513281.1_Missense_Mutation_p.G57W|ENSA_ENST00000369014.5_Missense_Mutation_p.G61W|ENSA_ENST00000361532.5_Missense_Mutation_p.G57W|ENSA_ENST00000503241.1_Missense_Mutation_p.G61W|ENSA_ENST00000354702.3_5'UTR|ENSA_ENST00000369009.3_Missense_Mutation_p.G61W|ENSA_ENST00000503345.1_Missense_Mutation_p.G61W|ENSA_ENST00000356527.5_Missense_Mutation_p.G61W|ENSA_ENST00000369016.4_Missense_Mutation_p.G61W	NM_207044.1	NP_996927.1	O43768	ENSA_HUMAN	endosulfine alpha	61					cell division|G2/M transition of mitotic cell cycle|mitosis|response to nutrient|transport	cytoplasm	ion channel inhibitor activity|protein phosphatase 2A binding|protein phosphatase inhibitor activity|protein phosphatase type 2A regulator activity|receptor binding			breast(1)|central_nervous_system(1)|endometrium(1)|lung(1)	4	all_cancers(9;3.09e-52)|all_epithelial(9;4.47e-43)|all_lung(15;1.09e-34)|Lung NSC(24;4.04e-31)|Breast(34;0.000615)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;9.85e-23)|all cancers(9;5.06e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.67e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000701)|LUSC - Lung squamous cell carcinoma(543;0.171)			CCCCATACCCCTTTCTGGAGT	0.483													9	122					0.000274275	0.000297259	1	1	0	A	150599945	C	A	150599945	3	1	81	1	0	0	0	0	1	0	0	0	5164	681	24	4	387	4	ENSA	1	150599945	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	73862	150599945	98650676	926	4542											
HORMAD1	84072	broad.mit.edu	37	1	150679047	150679047	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:150679047T>C	ENST00000368993.2	-	10	891	c.786A>G	c.(784-786)gaA>gaG	p.E262E	HORMAD1_ENST00000361824.2_Silent_p.E262E|HORMAD1_ENST00000322343.7_Silent_p.E255E|HORMAD1_ENST00000368995.4_Silent_p.E182E			Q86X24	HORM1_HUMAN	HORMA domain containing 1	262					blastocyst development|cell differentiation|meiotic DNA double-strand break formation|meiotic recombination checkpoint|meiotic sister chromatid cohesion|mitosis|oogenesis|regulation of homologous chromosome segregation|spermatogenesis|synaptonemal complex assembly	chromosome|nucleus				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(3)	16	all_cancers(9;3.23e-52)|all_epithelial(9;4.68e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.0009)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;2.32e-23)|all cancers(9;5.21e-23)|OV - Ovarian serous cystadenocarcinoma(6;6.72e-15)|BRCA - Breast invasive adenocarcinoma(12;0.000479)|LUSC - Lung squamous cell carcinoma(543;0.171)			AATGCTCCTGTTCATCTTCTA	0.303													4	80					0	0	1	0	0	C	150679047	T	C	150679047	2	2	81	1	0	0	0	0	0	0	0	1	7327	1722	60	3		3	HORMAD1	1	150679047	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	79102	150679047	98571574	927	4543											
SETDB1	9869	broad.mit.edu	37	1	150935182	150935182	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:150935182A>G	ENST00000271640.5	+	18	3468	c.3278A>G	c.(3277-3279)cAg>cGg	p.Q1093R	SETDB1_ENST00000368969.4_Missense_Mutation_p.Q1093R	NM_001145415.1|NM_012432.3	NP_001138887.1|NP_036564.3	Q15047	SETB1_HUMAN	SET domain, bifurcated 1	1093	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|Golgi apparatus|nucleus|plasma membrane	DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding			NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)			GCTTCTGCTCAGTCCAACCCT	0.443													3	62					0	0	1	0	0	G	150935182	A	G	150935182	3	3	81	1	0	0	0	0	1	0	0	0	14192	188	7	3	3344	3	SETDB1	1	150935182	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	256135	150935182	98315439	928	4544											
SETDB1	9869	broad.mit.edu	37	1	150936218	150936218	+	Splice_Site	SNP	G	G	A	rs111660370		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:150936218G>A	ENST00000271640.5	+	20	3859		c.e20+1		CERS2_ENST00000561294.1_3'UTR|SETDB1_ENST00000368969.4_Splice_Site	NM_001145415.1|NM_012432.3	NP_001138887.1|NP_036564.3	Q15047	SETB1_HUMAN	SET domain, bifurcated 1						regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|Golgi apparatus|nucleus|plasma membrane	DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding			NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)			CTACCTCAACGTGAGACCCCT	0.468													30	43					0	0	1	0	0	A	150936218	G	A	150936218	5	1	81	1	0	0	0	0	0	0	1	0	14192	1159	40	1	3744	1	SETDB1	1	150936218	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1036	150936218	98314403	929	4545											
BNIPL	149428	broad.mit.edu	37	1	151011359	151011359	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:151011359C>T	ENST00000295294.7	+	4	653	c.44C>T	c.(43-45)aCt>aTt	p.T15I	BNIPL_ENST00000368931.3_Missense_Mutation_p.T97I	NM_001159642.1	NP_001153114.1	Q7Z465	BNIPL_HUMAN	BCL2/adenovirus E1B 19kD interacting protein like	97					apoptosis|induction of apoptosis|negative regulation of cell proliferation|regulation of growth rate	cytosol|nucleus	identical protein binding			autonomic_ganglia(1)|endometrium(3)|large_intestine(1)|lung(4)|skin(1)	10	Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			CTGAGTCTGACTAAGGGGCCT	0.582													5	48					0	0	1	0	0	T	151011359	C	T	151011359	3	4	81	1	0	0	0	0	1	0	0	0	1479	565	20	2	304	2	BNIPL	1	151011359	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	75141	151011359	98239262	930	4546											
SEMA6C	10500	broad.mit.edu	37	1	151105842	151105842	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:151105842G>A	ENST00000341697.3	-	19	3602	c.1911C>T	c.(1909-1911)ggC>ggT	p.G637G				Q9H3T2	SEM6C_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C	637						integral to membrane	receptor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	28	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			CGATGTCCTTGCCCCGACGTC	0.721													12	6					0	0	1	0	0	A	151105842	G	A	151105842	2	1	81	1	0	0	0	0	0	0	0	1	14095	1306	46	2		2	SEMA6C	1	151105842	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	94483	151105842	98144779	931	4547											
SEMA6C	10500	broad.mit.edu	37	1	151108924	151108924	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:151108924C>A	ENST00000341697.3	-	12	2797	c.1106G>T	c.(1105-1107)aGg>aTg	p.R369M				Q9H3T2	SEM6C_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C	369	Sema.					integral to membrane	receptor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	28	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			TCCTGGGTACCTGGGTGAGGG	0.562													12	268					9.05144e-12	1.12483e-11	1	1	0	A	151108924	C	A	151108924	5	1	81	1	0	0	0	0	0	0	1	0	14095	695	24	4	1818	4	SEMA6C	1	151108924	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3082	151108924	98141697	932	4548											
TNFAIP8L2	79626	broad.mit.edu	37	1	151131470	151131470	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:151131470G>A	ENST00000368910.3	+	2	423	c.297G>A	c.(295-297)atG>atA	p.M99I		NM_024575.4	NP_078851.2	Q6P589	TP8L2_HUMAN	tumor necrosis factor, alpha-induced protein 8-like 2	99					innate immune response					lung(1)|skin(2)	3	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			AGGGTGCCATGACGGCACTTA	0.617													4	51					0	0	1	0	0	A	151131470	G	A	151131470	3	1	81	1	0	0	0	0	1	0	0	0	16338	1290	45	2	299	2	TNFAIP8L2	1	151131470	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	22546	151131470	98119151	933	4549											
LYSMD1	388695	broad.mit.edu	37	1	151134363	151134363	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:151134363G>A	ENST00000368908.5	-	2	1054	c.394C>T	c.(394-396)Cgt>Tgt	p.R132C	LYSMD1_ENST00000440902.2_Missense_Mutation_p.R84C	NM_212551.4	NP_997716.1	Q96S90	LYSM1_HUMAN	LysM, putative peptidoglycan-binding, domain containing 1	132					cell wall macromolecule catabolic process					endometrium(2)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			CCATTGGCACGTCCTGCTCCT	0.502													48	49					0	0	1	0	0	A	151134363	G	A	151134363	3	1	81	1	0	0	0	0	1	0	0	0	9170	1145	40	1	297	1	LYSMD1	1	151134363	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2893	151134363	98116258	934	4550											
VPS72	6944	broad.mit.edu	37	1	151149423	151149423	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:151149423G>T	ENST00000354473.4	-	6	861	c.825C>A	c.(823-825)acC>acA	p.T275T	VPS72_ENST00000496809.1_5'UTR			Q15906	VPS72_HUMAN	vacuolar protein sorting 72 homolog (S. cerevisiae)	264					chromatin modification|negative regulation of transcription from RNA polymerase II promoter	nucleus|protein complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(6)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	14	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			AAGTGATGAAGGTACGTGAGC	0.557													6	71					4.096e-09	4.9227e-09	1	1	0	T	151149423	G	T	151149423	2	4	81	1	0	0	0	0	0	0	0	1	17277	987	35	4		4	VPS72	1	151149423	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	15060	151149423	98101198	935	4551											
PIP5K1A	8394	broad.mit.edu	37	1	151196880	151196880	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:151196880T>C	ENST00000368888.4	+	3	576	c.154T>C	c.(154-156)Ttg>Ctg	p.L52L	PIP5K1A_ENST00000441902.2_Intron|PIP5K1A_ENST00000409426.1_Intron|PIP5K1A_ENST00000368890.4_Intron	NM_001135638.1	NP_001129110.1	Q99755	PI51A_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, alpha	52					phospholipid biosynthetic process|signal transduction	endomembrane system|Golgi stack|lamellipodium|nuclear speck	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|kinase binding			breast(1)|central_nervous_system(1)|ovary(1)|skin(1)|stomach(1)	5	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.181)			TTACATCTCATTGGTAGGCTA	0.289													22	168					0	0	1	0	0	C	151196880	T	C	151196880	2	2	81	1	0	0	0	0	0	0	0	1	11987	1490	52	3		3	PIP5K1A	1	151196880	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	47457	151196880	98053741	936	4552											
ZNF687	57592	broad.mit.edu	37	1	151261878	151261878	+	Silent	SNP	C	C	T	rs146722973	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:151261878C>T	ENST00000368879.2	+	5	2594	c.2496C>T	c.(2494-2496)tgC>tgT	p.C832C		NM_020832.1	NP_065883.1	Q8N1G0	ZN687_HUMAN	zinc finger protein 687	832					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	32	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GCGCCATGTGCGACACAGTCT	0.602													39	36					0	0	1	0	0	T	151261878	C	T	151261878	2	4	81	1	0	0	0	0	0	0	0	1	18148	776	27	1		1	ZNF687	1	151261878	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	64998	151261878	97988743	937	4553											
PI4KB	5298	broad.mit.edu	37	1	151288718	151288718	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:151288718C>A	ENST00000368875.2	-	3	856	c.276G>T	c.(274-276)ggG>ggT	p.G92G	PI4KB_ENST00000368874.4_Silent_p.G80G|PI4KB_ENST00000529142.1_Intron|PI4KB_ENST00000271657.5_Silent_p.G92G|PI4KB_ENST00000368873.1_Silent_p.G80G|PI4KB_ENST00000368872.1_Silent_p.G80G	NM_002651.2	NP_002642.1	Q9UBF8	PI4KB_HUMAN	phosphatidylinositol 4-kinase, catalytic, beta	80					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|receptor-mediated endocytosis	endosome|Golgi apparatus|mitochondrial outer membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum membrane	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			breast(3)|endometrium(5)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			CCACACCATCCCCATTGACCA	0.592													11	68					1.58986e-06	1.82794e-06	1	1	0	A	151288718	C	A	151288718	2	1	81	1	0	0	0	0	0	0	0	1	11922	610	22	5		5	PI4KB	1	151288718	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	26840	151288718	97961903	938	4554											
RFX5	5993	broad.mit.edu	37	1	151315446	151315446	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:151315446G>T	ENST00000290524.4	-	11	1245	c.1067C>A	c.(1066-1068)tCt>tAt	p.S356Y	RFX5_ENST00000368870.2_Missense_Mutation_p.S356Y|RFX5_ENST00000452671.2_Missense_Mutation_p.S356Y|RFX5_ENST00000452513.2_Missense_Mutation_p.S316Y	NM_000449.3|NM_001025603.1	NP_000440.1|NP_001020774.1	P48382	RFX5_HUMAN	regulatory factor X, 5 (influences HLA class II expression)	356						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			endometrium(3)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GGCACCTGAAGAAAGCCTGGG	0.587													34	32					7.11191e-15	9.0478e-15	1	1	0	T	151315446	G	T	151315446	3	4	81	1	0	0	0	0	1	0	0	0	13318	942	33	4	787	4	RFX5	1	151315446	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	26728	151315446	97935175	939	4555											
PSMB4	5692	broad.mit.edu	37	1	151372573	151372573	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:151372573G>A	ENST00000290541.6	+	2	311	c.257G>A	c.(256-258)cGc>cAc	p.R86H		NM_002796.2	NP_002787.2	P28070	PSB4_HUMAN	proteasome (prosome, macropain) subunit, beta type, 4	86					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex	threonine-type endopeptidase activity			endometrium(1)|lung(9)|ovary(2)|prostate(1)|skin(1)	14	Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			AACATCTCTCGCATTATGCGA	0.547													101	138					0	0	1	0	0	A	151372573	G	A	151372573	3	1	81	1	0	0	0	0	1	0	0	0	12728	1087	38	1	263	1	PSMB4	1	151372573	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	57127	151372573	97878048	940	4556											
POGZ	23126	broad.mit.edu	37	1	151400673	151400673	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:151400673G>A	ENST00000271715.2	-	6	1099	c.785C>T	c.(784-786)aCa>aTa	p.T262I	POGZ_ENST00000392723.1_Missense_Mutation_p.T209I|POGZ_ENST00000361398.3_Missense_Mutation_p.T209I|POGZ_ENST00000531094.1_Missense_Mutation_p.T209I|POGZ_ENST00000491586.1_Missense_Mutation_p.T209I|POGZ_ENST00000409503.1_Missense_Mutation_p.T262I|POGZ_ENST00000368863.2_Missense_Mutation_p.T167I|POGZ_ENST00000540984.1_Intron	NM_001194937.1|NM_015100.3	NP_001181866.1|NP_055915.2	Q7Z3K3	POGZ_HUMAN	pogo transposable element with ZNF domain	262					cell division|kinetochore assembly|mitotic sister chromatid cohesion|regulation of transcription, DNA-dependent	cytoplasm|nuclear chromatin	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(10)|kidney(3)|large_intestine(10)|liver(2)|lung(11)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	47	Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GGTTGGCTGTGTGGCAGTGGG	0.577													9	51					0	0	1	0	0	A	151400673	G	A	151400673	3	1	81	1	0	0	0	0	1	0	0	0	12234	1377	48	2	3517	2	POGZ	1	151400673	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	28100	151400673	97849948	941	4557											
SNX27	81609	broad.mit.edu	37	1	151630870	151630870	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:151630870C>T	ENST00000368843.3	+	3	823	c.703C>T	c.(703-705)Cga>Tga	p.R235*	SNX27_ENST00000368838.1_Nonsense_Mutation_p.R142*|SNX27_ENST00000458013.2_Nonsense_Mutation_p.R235*	NM_030918.5	NP_112180.4	Q96L92	SNX27_HUMAN	sorting nexin family member 27	235	PX.				cell communication|protein transport|signal transduction	cytosol|early endosome	phosphatidylinositol binding|protein binding			central_nervous_system(1)|large_intestine(2)|ovary(2)	5	Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			ATTAGATGCCCGACGTCGGGG	0.403													5	118					0	0	1	0	0	T	151630870	C	T	151630870	4	4	81	1	0	0	0	0	0	1	0	0	14951	644	23	1	713	1	SNX27	1	151630870	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	230197	151630870	97619751	942	4558											
SNX27	81609	broad.mit.edu	37	1	151664940	151664940	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:151664940C>A	ENST00000368843.3	+	9	1389	c.1269C>A	c.(1267-1269)ggC>ggA	p.G423G	SNX27_ENST00000368838.1_Silent_p.G330G|SNX27_ENST00000458013.2_Silent_p.G423G	NM_030918.5	NP_112180.4	Q96L92	SNX27_HUMAN	sorting nexin family member 27	423					cell communication|protein transport|signal transduction	cytosol|early endosome	phosphatidylinositol binding|protein binding			central_nervous_system(1)|large_intestine(2)|ovary(2)	5	Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			CTTGTGAGGGCTACAATGAAA	0.413													5	32					1	1	1	1	0	A	151664940	C	A	151664940	2	1	81	1	0	0	0	0	0	0	0	1	14951	784	28	4		4	SNX27	1	151664940	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	34070	151664940	97585681	943	4559											
TDRKH	11022	broad.mit.edu	37	1	151752494	151752494	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:151752494G>A	ENST00000368822.1	-	4	987	c.354C>T	c.(352-354)atC>atT	p.I118I	TDRKH_ENST00000368823.1_Silent_p.I114I|TDRKH_ENST00000458431.2_Silent_p.I118I|TDRKH_ENST00000440583.2_Intron|TDRKH_ENST00000484421.1_Intron|TDRKH_ENST00000368824.3_Silent_p.I118I|TDRKH_ENST00000368827.6_Silent_p.I118I|TDRKH_ENST00000368825.3_Intron			Q9Y2W6	TDRKH_HUMAN	tudor and KH domain containing	118							RNA binding			breast(5)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			TCTCTGTCAGGATCTGATGGA	0.498													54	63					0	0	1	0	0	A	151752494	G	A	151752494	2	1	81	1	0	0	0	0	0	0	0	1	15796	1164	41	2		2	TDRKH	1	151752494	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	87554	151752494	97498127	944	4560											
TCHHL1	126637	broad.mit.edu	37	1	152058011	152058011	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:152058011G>A	ENST00000368806.1	-	3	2211	c.2147C>T	c.(2146-2148)gCc>gTc	p.A716V		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	716							calcium ion binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			AGTATTCTGGGCCTCTGTTGC	0.443													77	88					0	0	1	0	0	A	152058011	G	A	152058011	3	1	81	1	0	0	0	0	1	0	0	0	15761	1203	42	2	571	2	TCHHL1	1	152058011	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	305517	152058011	97192610	945	4561											
TCHHL1	126637	broad.mit.edu	37	1	152059177	152059177	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:152059177G>A	ENST00000368806.1	-	3	1045	c.981C>T	c.(979-981)gtC>gtT	p.V327V		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	327							calcium ion binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			ACATTCTACAGACATCCTTGG	0.463													122	158					0	0	1	0	0	A	152059177	G	A	152059177	2	1	81	1	0	0	0	0	0	0	0	1	15761	929	33	2		2	TCHHL1	1	152059177	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1166	152059177	97191444	946	4562											
TCHH	7062	broad.mit.edu	37	1	152080388	152080388	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:152080388G>A	ENST00000368804.1	-	2	5304	c.5305C>T	c.(5305-5307)Cgc>Tgc	p.R1769C		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1769	23 X 26 AA approximate tandem repeats.				keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTTCTGTCGCGCTCCTGGCGG	0.592													25	54					0	0	1	0	0	A	152080388	G	A	152080388	3	1	81	1	0	0	0	0	1	0	0	0	15760	1087	38	1	530	1	TCHH	1	152080388	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	21211	152080388	97170233	947	4563											
TCHH	7062	broad.mit.edu	37	1	152080722	152080722	+	Silent	SNP	G	G	A	rs71585886		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:152080722G>A	ENST00000368804.1	-	2	4970	c.4971C>T	c.(4969-4971)cgC>cgT	p.R1657R		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1657	23 X 26 AA approximate tandem repeats.				keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCTGTTGTTCGCGCTCCTGGC	0.602													8	92					0	0	1	0	0	A	152080722	G	A	152080722	2	1	81	1	0	0	0	0	0	0	0	1	15760	1074	38	1		1	TCHH	1	152080722	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	334	152080722	97169899	948	4564											
TCHH	7062	broad.mit.edu	37	1	152082035	152082035	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:152082035G>A	ENST00000368804.1	-	2	3657	c.3658C>T	c.(3658-3660)Cgc>Tgc	p.R1220C		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1220					keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGATCACTGCGCTGATCCTCA	0.517													42	36					0	0	1	0	0	A	152082035	G	A	152082035	3	1	81	1	0	0	0	0	1	0	0	0	15760	1087	38	1	2177	1	TCHH	1	152082035	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1313	152082035	97168586	949	4565											
TCHH	7062	broad.mit.edu	37	1	152082671	152082671	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:152082671G>A	ENST00000368804.1	-	2	3021	c.3022C>T	c.(3022-3024)Cgg>Tgg	p.R1008W		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1008	10 X 30 AA tandem repeats.				keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ctcttctcccgttcctctctc	0.577													38	58					0	0	1	0	0	A	152082671	G	A	152082671	3	1	81	1	0	0	0	0	1	0	0	0	15760	1144	40	1	2813	1	TCHH	1	152082671	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	636	152082671	97167950	950	4566											
TCHH	7062	broad.mit.edu	37	1	152082939	152082939	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:152082939G>A	ENST00000368804.1	-	2	2753	c.2754C>T	c.(2752-2754)cgC>cgT	p.R918R		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	918	10 X 30 AA tandem repeats.				keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTCTCTTCTCGCGCTCCTCTC	0.592													88	83					0	0	1	0	0	A	152082939	G	A	152082939	2	1	81	1	0	0	0	0	0	0	0	1	15760	1074	38	1		1	TCHH	1	152082939	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	268	152082939	97167682	951	4567											
TCHH	7062	broad.mit.edu	37	1	152085221	152085221	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:152085221G>A	ENST00000368804.1	-	2	471	c.472C>T	c.(472-474)Caa>Taa	p.Q158*		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	158					keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGTCGCTCTTGTTTCTCACTT	0.597													77	82					0	0	1	0	0	A	152085221	G	A	152085221	4	1	81	1	0	0	0	0	0	1	0	0	15760	1386	48	2	5363	2	TCHH	1	152085221	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2282	152085221	97165400	952	4568											
RPTN	126638	broad.mit.edu	37	1	152127497	152127497	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:152127497G>A	ENST00000316073.3	-	3	2142	c.2078C>T	c.(2077-2079)aCc>aTc	p.T693I		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	693	Gln-rich.					proteinaceous extracellular matrix	calcium ion binding			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						ACTCTGCCTGGTCTGGGCCTG	0.532													57	112					0	0	1	0	0	A	152127497	G	A	152127497	3	1	81	1	0	0	0	0	1	0	0	0	13716	1261	44	2	280	2	RPTN	1	152127497	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	42276	152127497	97123124	953	4569											
RPTN	126638	broad.mit.edu	37	1	152128585	152128585	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:152128585G>T	ENST00000316073.3	-	3	1054	c.990C>A	c.(988-990)caC>caA	p.H330Q		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	330	Gln-rich.					proteinaceous extracellular matrix	calcium ion binding			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						GCTGACTGTAGTGGGAACTCT	0.488													64	736					1.34159e-35	1.79725e-35	1	1	0	T	152128585	G	T	152128585	3	4	81	1	0	0	0	0	1	0	0	0	13716	1020	36	4	1368	4	RPTN	1	152128585	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1088	152128585	97122036	954	4570											
RPTN	126638	broad.mit.edu	37	1	152129036	152129036	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:152129036G>T	ENST00000316073.3	-	3	603	c.539C>A	c.(538-540)tCt>tAt	p.S180Y		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	180	Gln-rich.					proteinaceous extracellular matrix	calcium ion binding			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						ATTGTGGTGAGAATCTCTGTC	0.463													11	422					4.36969e-10	5.3233e-10	1	1	0	T	152129036	G	T	152129036	3	4	81	1	0	0	0	0	1	0	0	0	13716	942	33	4	1819	4	RPTN	1	152129036	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	451	152129036	97121585	955	4571											
HRNR	388697	broad.mit.edu	37	1	152187633	152187633	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:152187633G>A	ENST00000368801.2	-	3	6547	c.6472C>T	c.(6472-6474)Cgc>Tgc	p.R2158C	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	2158					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGACCATAGCGGGAAGACGAA	0.617													55	1794					0	0	1	0	0	A	152187633	G	A	152187633	3	1	81	1	0	0	0	0	1	0	0	0	7400	1116	39	1	2084	1	HRNR	1	152187633	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	58597	152187633	97062988	956	4572											
HRNR	388697	broad.mit.edu	37	1	152191231	152191231	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:152191231T>C	ENST00000368801.2	-	3	2949	c.2874A>G	c.(2872-2874)gaA>gaG	p.E958E	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	958					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGCCGTGTTGTTCGTAGCTGG	0.552													18	206					0	0	1	0	0	C	152191231	T	C	152191231	2	2	81	1	0	0	0	0	0	0	0	1	7400	1722	60	3		3	HRNR	1	152191231	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	3598	152191231	97059390	957	4573											
HRNR	388697	broad.mit.edu	37	1	152193229	152193229	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:152193229C>T	ENST00000368801.2	-	3	951	c.876G>A	c.(874-876)caG>caA	p.Q292Q	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	292					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGCCCAAAGACTGACGGGAAC	0.602													62	73					0	0	1	0	0	T	152193229	C	T	152193229	2	4	81	1	0	0	0	0	0	0	0	1	7400	564	20	2		2	HRNR	1	152193229	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1998	152193229	97057392	958	4574											
FLG	2312	broad.mit.edu	37	1	152275432	152275432	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:152275432C>T	ENST00000368799.1	-	3	11965	c.11930G>A	c.(11929-11931)gGc>gAc	p.G3977D	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3977					keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ACCATAGCTGCCATGTCTCCA	0.418									Ichthyosis				81	101					0	0	1	0	0	T	152275432	C	T	152275432	3	4	81	1	0	0	0	0	1	0	0	0	5955	739	26	2	259	2	FLG	1	152275432	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	82203	152275432	96975189	959	4575											
FLG	2312	broad.mit.edu	37	1	152279721	152279721	+	Silent	SNP	C	C	T	rs12081090	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:152279721C>T	ENST00000368799.1	-	3	7676	c.7641G>A	c.(7639-7641)tcG>tcA	p.S2547S	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2547	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGCCCACCTGCGAGTGTCCAG	0.582									Ichthyosis				104	172					0	0	1	0	0	T	152279721	C	T	152279721	2	4	81	1	0	0	0	0	0	0	0	1	5955	755	27	1		1	FLG	1	152279721	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	4289	152279721	96970900	960	4576											
FLG	2312	broad.mit.edu	37	1	152281063	152281063	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:152281063G>T	ENST00000368799.1	-	3	6334	c.6299C>A	c.(6298-6300)tCt>tAt	p.S2100Y	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2100	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGTGGACTCAGACTGTTCATG	0.567									Ichthyosis				21	223					4.96729e-08	5.86596e-08	1	1	0	T	152281063	G	T	152281063	3	4	81	1	0	0	0	0	1	0	0	0	5955	942	33	4	5890	4	FLG	1	152281063	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1342	152281063	96969558	961	4577											
FLG	2312	broad.mit.edu	37	1	152282658	152282658	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:152282658G>A	ENST00000368799.1	-	3	4739	c.4704C>T	c.(4702-4704)gcC>gcT	p.A1568A	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1568	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TAGAGCTGCCGGCCCGAGTGG	0.587									Ichthyosis				92	143					0	0	1	0	0	A	152282658	G	A	152282658	2	1	81	1	0	0	0	0	0	0	0	1	5955	1103	39	1		1	FLG	1	152282658	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1595	152282658	96967963	962	4578											
FLG	2312	broad.mit.edu	37	1	152284256	152284256	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:152284256G>A	ENST00000368799.1	-	3	3141	c.3106C>T	c.(3106-3108)Cgc>Tgc	p.R1036C	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1036	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGCTGGTGGCGGGATCCGTGT	0.567									Ichthyosis				252	275					0	0	1	0	0	A	152284256	G	A	152284256	3	1	81	1	0	0	0	0	1	0	0	0	5955	1116	39	1	9083	1	FLG	1	152284256	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1598	152284256	96966365	963	4579											
FLG2	388698	broad.mit.edu	37	1	152325257	152325257	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:152325257G>A	ENST00000388718.5	-	3	5077	c.5005C>T	c.(5005-5007)Cat>Tat	p.H1669Y	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1669							calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGTCCTGTATGTGTGTGTGAG	0.502													127	213					0	0	1	0	0	A	152325257	G	A	152325257	3	1	81	1	0	0	0	0	1	0	0	0	5956	1377	48	2	2174	2	FLG2	1	152325257	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	41001	152325257	96925364	964	4580											
FLG2	388698	broad.mit.edu	37	1	152325372	152325372	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:152325372A>C	ENST00000388718.5	-	3	4962	c.4890T>G	c.(4888-4890)caT>caG	p.H1630Q	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1630							calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CAGAGTGGGAATGTCCAGTGG	0.507													11	339					0	0	1	0	0	C	152325372	A	C	152325372	3	2	81	1	0	0	0	0	1	0	0	0	5956	98	4	4	2289	4	FLG2	1	152325372	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	115	152325372	96925249	965	4581											
FLG2	388698	broad.mit.edu	37	1	152327756	152327756	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:152327756G>A	ENST00000388718.5	-	3	2578	c.2506C>T	c.(2506-2508)Cat>Tat	p.H836Y	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	836	Ser-rich.						calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTAGACTCATGCTGTCCAAAG	0.512													142	184					0	0	1	0	0	A	152327756	G	A	152327756	3	1	81	1	0	0	0	0	1	0	0	0	5956	1319	46	2	4673	2	FLG2	1	152327756	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2384	152327756	96922865	966	4582											
FLG2	388698	broad.mit.edu	37	1	152328811	152328811	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:152328811G>T	ENST00000388718.5	-	3	1523	c.1451C>A	c.(1450-1452)tCt>tAt	p.S484Y	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	484	Ser-rich.						calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ACCTGAGCCAGACCCATGTTG	0.527													104	123					2.91292e-72	3.92666e-72	1	1	0	T	152328811	G	T	152328811	3	4	81	1	0	0	0	0	1	0	0	0	5956	942	33	4	5728	4	FLG2	1	152328811	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1055	152328811	96921810	967	4583											
FLG2	388698	broad.mit.edu	37	1	152329824	152329824	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:152329824G>T	ENST00000388718.5	-	3	510	c.438C>A	c.(436-438)caC>caA	p.H146Q	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	146	Ser-rich.						calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTCCCCTTGAGTGCCCAGAAC	0.463													37	201					6.33695e-27	8.40597e-27	1	1	0	T	152329824	G	T	152329824	3	4	81	1	0	0	0	0	1	0	0	0	5956	1020	36	4	6741	4	FLG2	1	152329824	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1013	152329824	96920797	968	4584											
KPRP	448834	broad.mit.edu	37	1	152733255	152733255	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:152733255G>T	ENST00000368773.1	+	2	1249	c.1191G>T	c.(1189-1191)caG>caT	p.Q397H	KPRP_ENST00000606109.1_Missense_Mutation_p.Q397H	NM_001025231.1	NP_001020402.1	Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	397	Pro-rich.					cytoplasm				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CACCACTGCAGCGATGTCCAC	0.602													17	23					6.94344e-10	8.44171e-10	1	1	0	T	152733255	G	T	152733255	3	4	81	1	0	0	0	0	1	0	0	0	8479	962	34	4	1193	4	KPRP	1	152733255	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	403431	152733255	96517366	969	4585											
IVL	3713	broad.mit.edu	37	1	152883903	152883903	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:152883903G>A	ENST00000368764.3	+	2	1694	c.1630G>A	c.(1630-1632)Gtg>Atg	p.V544M	IVL_ENST00000392667.2_Missense_Mutation_p.V398M			P07476	INVO_HUMAN	involucrin	544					isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine|keratinization|response to UV-B	cornified envelope|cytoplasm	protein binding, bridging|structural molecule activity			breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			ggagcagcCTGTGTTTGCCCC	0.587													4	33					0	0	1	0	0	A	152883903	G	A	152883903	3	1	81	1	0	0	0	0	1	0	0	0	7973	1377	48	2	1632	2	IVL	1	152883903	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	150648	152883903	96366718	970	4586											
PGLYRP4	57115	broad.mit.edu	37	1	153312884	153312884	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:153312884C>A	ENST00000368739.3	-	7	1143	c.785G>T	c.(784-786)aGg>aTg	p.R262M	PGLYRP4_ENST00000359650.5_Missense_Mutation_p.R266M			Q96LB8	PGRP4_HUMAN	peptidoglycan recognition protein 4	266					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			breast(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	23	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			TGACTTGAGCCTGTCTATGTA	0.517													24	48					4.7796e-09	5.73439e-09	1	1	0	A	153312884	C	A	153312884	3	1	81	1	0	0	0	0	1	0	0	0	11844	681	24	4	336	4	PGLYRP4	1	153312884	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	428981	153312884	95937737	971	4587											
S100A9	6280	broad.mit.edu	37	1	153330827	153330827	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:153330827C>A	ENST00000368738.3	+	2	111	c.68C>A	c.(67-69)tCt>tAt	p.S23Y		NM_002965.3	NP_002956.1	P06702	S10A9_HUMAN	S100 calcium binding protein A9	23	EF-hand 1.				cell-cell signaling	cytoplasm|cytoskeleton|nucleus|plasma membrane	calcium ion binding|protein binding|signal transducer activity			breast(1)|endometrium(1)|large_intestine(2)	4	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			CACCAATACTCTGTGAAGCTG	0.493													18	31					1.67942e-08	2.00033e-08	1	1	0	A	153330827	C	A	153330827	3	1	81	1	0	0	0	0	1	0	0	0	13839	913	32	4	70	4	S100A9	1	153330827	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	17943	153330827	95919794	972	4588											
S100A7	6278	broad.mit.edu	37	1	153430402	153430403	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:153430402_153430403insT	ENST00000368723.3	-	3	295_296	c.185_186insA	c.(184-186)aagfs	p.K62fs	S100A7_ENST00000368722.1_Frame_Shift_Ins_p.K62fs	NM_002963.3	NP_002954.2	P31151	S10A7_HUMAN	S100 calcium binding protein A7	62	EF-hand 2.				angiogenesis|defense response to Gram-negative bacterium|innate immune response|keratinocyte differentiation|positive regulation of ERK1 and ERK2 cascade|positive regulation of granulocyte chemotaxis|positive regulation of monocyte chemotaxis|positive regulation of T cell chemotaxis|response to lipopolysaccharide|response to reactive oxygen species|sequestering of metal ion	cytosol|endoplasmic reticulum|extracellular region|focal adhesion|nucleus	calcium ion binding|RAGE receptor binding|zinc ion binding			breast(1)|large_intestine(2)|lung(5)|skin(2)	10	all_lung(78;2.4e-33)|Lung NSC(65;8.13e-32)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			CATTCTTGTCCTTTTTCTCAAA	0.416													50	74	---	---	---	---						T	153430403	-	T	153430402	7	5	81	1	0	1	1	0	0	0	0	0	13835	680	24	0	123	0	S100A7	1	153430402	Frame_Shift_Ins	INS	-	TCGA-DU-6392-01A-11D-1705-08	99575	153430402	95820219	973	4589											
S100A4	6275	broad.mit.edu	37	1	153516392	153516392	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:153516392G>A	ENST00000368716.4	-	3	296	c.149C>T	c.(148-150)aCa>aTa	p.T50I	S100A4_ENST00000368715.1_Missense_Mutation_p.T50I|S100A4_ENST00000481009.1_5'UTR|S100A4_ENST00000354332.4_Missense_Mutation_p.T50I|S100A4_ENST00000368714.1_Missense_Mutation_p.T50I	NM_002961.2	NP_002952.1	P26447	S10A4_HUMAN	S100 calcium binding protein A4	50	EF-hand 2.				epithelial to mesenchymal transition|positive regulation of I-kappaB kinase/NF-kappaB cascade	nucleus|perinuclear region of cytoplasm	calcium ion binding|RAGE receptor binding			large_intestine(2)|lung(1)|prostate(1)	4	all_lung(78;5.98e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			AGCTTCATCTGTCCTTTTCTG	0.532													8	201					0	0	1	0	0	A	153516392	G	A	153516392	3	1	81	1	0	0	0	0	1	0	0	0	13832	1377	48	2	160	2	S100A4	1	153516392	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	85990	153516392	95734229	974	4590											
S100A13	6284	broad.mit.edu	37	1	153598926	153598926	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:153598926T>G	ENST00000368699.1	-	4	526	c.23A>C	c.(22-24)gAg>gCg	p.E8A	S100A13_ENST00000392622.1_Missense_Mutation_p.E8A|S100A13_ENST00000339556.4_Missense_Mutation_p.E8A|S100A13_ENST00000392623.1_Missense_Mutation_p.E8A|S100A13_ENST00000440685.2_Missense_Mutation_p.E8A|RP1-178F15.5_ENST00000497086.1_RNA|S100A13_ENST00000491177.1_5'UTR	NM_001024210.1	NP_001019381.1	Q99584	S10AD_HUMAN	S100 calcium binding protein A13	8					interleukin-1 alpha secretion|mast cell degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade	cytosol|extracellular space|nucleus|perinuclear region of cytoplasm	calcium ion binding|copper ion binding|fibroblast growth factor 1 binding|lipid binding|protein homodimerization activity|RAGE receptor binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(1)|lung(4)	7	all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)		Amlexanox(DB01025)	CTCCTCTAGCTCTGTCAGTGG	0.557													16	72					0	0	1	0	0	G	153598926	T	G	153598926	3	3	81	1	0	0	0	0	1	0	0	0	13827	1551	54	5	281	5	S100A13	1	153598926	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	82534	153598926	95651695	975	4591											
ILF2	3608	broad.mit.edu	37	1	153637767	153637767	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:153637767G>A	ENST00000361891.4	-	8	631	c.506C>T	c.(505-507)tCt>tTt	p.S169F		NM_001267809.1|NM_004515.3	NP_001254738.1|NP_004506.2	Q12905	ILF2_HUMAN	interleukin enhancer binding factor 2	169	DZF.				immune response|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus|ribonucleoprotein complex	ATP binding|DNA binding|double-stranded RNA binding|protein binding|transferase activity			cervix(1)|kidney(1)|lung(4)|skin(1)	7	all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			TGTAGCATCAGAAGAACTGAT	0.353													30	58					0	0	1	0	0	A	153637767	G	A	153637767	3	1	81	1	0	0	0	0	1	0	0	0	7755	942	33	2	694	2	ILF2	1	153637767	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	38841	153637767	95612854	976	4592											
INTS3	65123	broad.mit.edu	37	1	153719517	153719517	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:153719517C>A	ENST00000318967.2	+	4	971	c.403C>A	c.(403-405)Ctg>Atg	p.L135M	RP11-216N14.8_ENST00000453778.1_RNA|INTS3_ENST00000435409.2_Missense_Mutation_p.L135M|INTS3_ENST00000456435.1_5'UTR	NM_023015.3	NP_075391.3	Q68E01	INT3_HUMAN	integrator complex subunit 3	135					DNA repair|G2/M transition checkpoint|response to ionizing radiation|snRNA processing	integrator complex|SOSS complex	protein binding			breast(1)|cervix(4)|endometrium(10)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GGAGAAGTACCTGAAGCTGCA	0.458													35	36					3.33393e-15	4.2498e-15	1	1	0	A	153719517	C	A	153719517	3	1	81	1	0	0	0	0	1	0	0	0	7823	680	24	4	417	4	INTS3	1	153719517	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	81750	153719517	95531104	977	4593											
INTS3	65123	broad.mit.edu	37	1	153730127	153730127	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:153730127G>A	ENST00000456435.1	+	10	1605	c.419G>A	c.(418-420)cGc>cAc	p.R140H	INTS3_ENST00000476843.1_3'UTR|INTS3_ENST00000435409.2_Missense_Mutation_p.R346H|INTS3_ENST00000318967.2_Missense_Mutation_p.R346H|INTS3_ENST00000512605.1_Missense_Mutation_p.R140H			Q68E01	INT3_HUMAN	integrator complex subunit 3	347					DNA repair|G2/M transition checkpoint|response to ionizing radiation|snRNA processing	integrator complex|SOSS complex	protein binding	p.R346H(1)		breast(1)|cervix(4)|endometrium(10)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CAGTCTCTGCGCTGTGACCTC	0.517													56	56					0	0	1	0	0	A	153730127	G	A	153730127	3	1	81	1	0	0	0	0	1	0	0	0	7823	1087	38	1	1075	1	INTS3	1	153730127	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	10610	153730127	95520494	978	4594											
INTS3	65123	broad.mit.edu	37	1	153733342	153733342	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:153733342C>T	ENST00000456435.1	+	13	1925	c.739C>T	c.(739-741)Cgg>Tgg	p.R247W	INTS3_ENST00000476843.1_3'UTR|INTS3_ENST00000435409.2_Missense_Mutation_p.R453W|INTS3_ENST00000318967.2_Missense_Mutation_p.R453W|INTS3_ENST00000512605.1_Missense_Mutation_p.R247W			Q68E01	INT3_HUMAN	integrator complex subunit 3	454					DNA repair|G2/M transition checkpoint|response to ionizing radiation|snRNA processing	integrator complex|SOSS complex	protein binding			breast(1)|cervix(4)|endometrium(10)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GGGCCACGTGCGGCAGGGTGT	0.512													14	93					0	0	1	0	0	T	153733342	C	T	153733342	3	4	81	1	0	0	0	0	1	0	0	0	7823	759	27	1	1407	1	INTS3	1	153733342	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3215	153733342	95517279	979	4595											
GATAD2B	57459	broad.mit.edu	37	1	153800488	153800488	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:153800488C>T	ENST00000368655.4	-	2	579		c.e2+1			NM_020699.2	NP_065750.1	Q8WXI9	P66B_HUMAN	GATA zinc finger domain containing 2B							nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	38	all_lung(78;1.34e-32)|Lung NSC(65;1.04e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CTGAGCCATACCTCCGTCTAG	0.478													38	47					0	0	1	0	0	T	153800488	C	T	153800488	5	4	81	1	0	0	0	0	0	0	1	0	6301	521	18	2	1485	2	GATAD2B	1	153800488	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	67146	153800488	95450133	980	4596											
DENND4B	9909	broad.mit.edu	37	1	153909042	153909042	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:153909042G>A	ENST00000361217.4	-	16	2833	c.2415C>T	c.(2413-2415)agC>agT	p.S805S		NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	805										NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CCACCTTGCCGCTCTCCATCT	0.607													8	9					0	0	1	0	0	A	153909042	G	A	153909042	2	1	81	1	0	0	0	0	0	0	0	1	4462	1078	38	1		1	DENND4B	1	153909042	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	108554	153909042	95341579	981	4597											
CRTC2	200186	broad.mit.edu	37	1	153920936	153920936	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:153920936G>A	ENST00000368633.1	-	13	1986	c.1859C>T	c.(1858-1860)aCa>aTa	p.T620I	CRTC2_ENST00000368630.3_Missense_Mutation_p.T300I	NM_181715.2	NP_859066.1	Q53ET0	CRTC2_HUMAN	CREB regulated transcription coactivator 2	620					interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding			NS(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	27	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CCATTCACCTGTGAGGATGAT	0.542													16	29					0	0	1	0	0	A	153920936	G	A	153920936	3	1	81	1	0	0	0	0	1	0	0	0	3923	1377	48	2	230	2	CRTC2	1	153920936	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	11894	153920936	95329685	982	4598											
NUP210L	91181	broad.mit.edu	37	1	154029414	154029414	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:154029414C>A	ENST00000368559.3	-	23	3188	c.3117G>T	c.(3115-3117)gaG>gaT	p.E1039D	NUP210L_ENST00000271854.3_Missense_Mutation_p.E1039D	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	1039						integral to membrane				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			CGTCCTGTTGCTCCATTGGTC	0.433													40	43					2.40579e-17	3.1027e-17	1	1	0	A	154029414	C	A	154029414	3	1	81	1	0	0	0	0	1	0	0	0	10809	796	28	4	2621	4	NUP210L	1	154029414	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	108478	154029414	95221207	983	4599											
NUP210L	91181	broad.mit.edu	37	1	154125288	154125288	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:154125288A>G	ENST00000368559.3	-	2	335	c.264T>C	c.(262-264)tgT>tgC	p.C88C	NUP210L_ENST00000271854.3_Silent_p.C88C	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	88						integral to membrane				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			CTTTTTGGGAACACAAGGTGC	0.413													31	40					0	0	1	0	0	G	154125288	A	G	154125288	2	3	81	1	0	0	0	0	0	0	0	1	10809	41	2	3		3	NUP210L	1	154125288	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	95874	154125288	95125333	984	4600											
NUP210L	91181	broad.mit.edu	37	1	154127368	154127368	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:154127368C>T	ENST00000368559.3	-	1	224	c.153G>A	c.(151-153)gaG>gaA	p.E51E	NUP210L_ENST00000271854.3_Silent_p.E51E	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	51						integral to membrane				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			CCCGGCCTGGCTCTCGGCCGA	0.587													20	31					0	0	1	0	0	T	154127368	C	T	154127368	2	4	81	1	0	0	0	0	0	0	0	1	10809	796	28	2		2	NUP210L	1	154127368	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2080	154127368	95123253	985	4601											
TPM3	7170	broad.mit.edu	37	1	154163714	154163714	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:154163714G>T	ENST00000368530.2	-	2	383	c.191C>A	c.(190-192)gCt>gAt	p.A64D	TPM3_ENST00000271850.7_Missense_Mutation_p.A64D	NM_152263.2	NP_689476.2	P06753	TPM3_HUMAN	tropomyosin 3	63					cellular component movement|muscle filament sliding|regulation of muscle contraction	cytosol|muscle thin filament tropomyosin|stress fiber	actin binding		TPM3/NTRK1_ENST00000392302(70)|TPM3/ALK(33)	breast(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)					ATCCTTCAAAGCTTCAGAATA	0.488			T	"NTRK1, ALK, ROS1"	"papillary thyroid, ALCL, NSCLC"								21	87					2.37509e-13	2.99406e-13	1	1	0	T	154163714	G	T	154163714	3	4	81	1	0	0	0	0	1	0	0	0	16468	971	34	4	1089	4	TPM3	1	154163714	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	36346	154163714	95086907	986	4602											
C1orf43	25912	broad.mit.edu	37	1	154184972	154184972	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:154184972G>T	ENST00000368521.5	-	5	667	c.469C>A	c.(469-471)Ctt>Att	p.L157I	C1orf43_ENST00000368518.1_Missense_Mutation_p.L157I|C1orf43_ENST00000362076.4_Missense_Mutation_p.L105I|C1orf43_ENST00000368519.1_Missense_Mutation_p.L139I|C1orf43_ENST00000350592.3_Missense_Mutation_p.L123I|C1orf43_ENST00000368516.1_Missense_Mutation_p.L123I	NM_001098616.1	NP_001092086.1	Q9BWL3	CA043_HUMAN	chromosome 1 open reading frame 43	157						integral to membrane	coenzyme binding|oxidoreductase activity			cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)	10	all_lung(78;1.98e-30)|Lung NSC(65;2.87e-28)|Hepatocellular(266;0.0877)					CCATCCAAAAGGGTATCAATG	0.498													7	65					1.26484e-09	1.5311e-09	1	1	0	T	154184972	G	T	154184972	3	4	81	1	0	0	0	0	1	0	0	0	2054	1000	35	4	304	4	C1orf43	1	154184972	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	21258	154184972	95065649	987	4603											
HAX1	10456	broad.mit.edu	37	1	154245846	154245846	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:154245846G>T	ENST00000328703.7	+	2	301	c.88G>T	c.(88-90)Gat>Tat	p.D30Y	HAX1_ENST00000483970.2_Missense_Mutation_p.D30Y|HAX1_ENST00000532105.1_Intron|HAX1_ENST00000457918.2_Intron	NM_006118.3	NP_006109.2	O00165	HAX1_HUMAN	HCLS1 associated protein X-1	30	Asp/Glu-rich (highly acidic).|Required for localization in mitochondria (By similarity).					actin cytoskeleton|cytoplasmic membrane-bounded vesicle|lamellipodium|mitochondrion|nuclear membrane|sarcoplasmic reticulum|soluble fraction	interleukin-1 binding|protein N-terminus binding			cervix(1)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	15	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			GATGACTCGAGATGAAGATGA	0.493									Kostmann syndrome				29	65					2.08973e-25	2.76555e-25	1	1	0	T	154245846	G	T	154245846	3	4	81	1	0	0	0	0	1	0	0	0	7016	942	33	4	94	4	HAX1	1	154245846	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	60874	154245846	95004775	988	4604											
HAX1	10456	broad.mit.edu	37	1	154247708	154247708	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:154247708C>T	ENST00000328703.7	+	5	848	c.635C>T	c.(634-636)tCt>tTt	p.S212F	HAX1_ENST00000483970.2_Missense_Mutation_p.S220F|HAX1_ENST00000532105.1_Missense_Mutation_p.S84F|HAX1_ENST00000457918.2_Missense_Mutation_p.S164F	NM_006118.3	NP_006109.2	O00165	HAX1_HUMAN	HCLS1 associated protein X-1	212	Involved in ATP2A2 binding.|Involved in GNA13 binding.|Involved in HCLS1 binding.|Involved in PKD2 binding.|Involved in PLN binding.|Required for localization in sarcoplasmic reticulum (By similarity).					actin cytoskeleton|cytoplasmic membrane-bounded vesicle|lamellipodium|mitochondrion|nuclear membrane|sarcoplasmic reticulum|soluble fraction	interleukin-1 binding|protein N-terminus binding			cervix(1)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	15	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			AAGAGCATCTCTGTGACCAAG	0.488									Kostmann syndrome				34	42					0	0	1	0	0	T	154247708	C	T	154247708	3	4	81	1	0	0	0	0	1	0	0	0	7016	913	32	2	653	2	HAX1	1	154247708	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1862	154247708	95002913	989	4605											
ATP8B2	57198	broad.mit.edu	37	1	154303299	154303299	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:154303299C>T	ENST00000368489.3	+	4	198	c.198C>T	c.(196-198)tgC>tgT	p.C66C	ATP8B2_ENST00000426445.1_3'UTR|ATP8B2_ENST00000341822.2_Silent_p.C52C|ATP8B2_ENST00000368487.3_Silent_p.C33C	NM_020452.3	NP_065185.1	P98198	AT8B2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 2	52					ATP biosynthetic process	plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity		IL6R/ATP8B2(2)	breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			AGAGTAACTGCATCAAGACCT	0.488													4	43					0	0	1	0	0	T	154303299	C	T	154303299	2	4	81	1	0	0	0	0	0	0	0	1	1193	718	25	2		2	ATP8B2	1	154303299	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	55591	154303299	94947322	990	4606											
SHE	126669	broad.mit.edu	37	1	154459139	154459139	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:154459139G>A	ENST00000304760.2	-	4	1131	c.1045C>T	c.(1045-1047)Cga>Tga	p.R349*		NM_001010846.2	NP_001010846.1	Q5VZ18	SHE_HUMAN	Src homology 2 domain containing E	349										breast(4)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)	14	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			AAGGAAGGTCGCTCAGCTCCT	0.547													33	41					0	0	1	0	0	A	154459139	G	A	154459139	4	1	81	1	0	0	0	0	0	1	0	0	14331	1095	38	1	454	1	SHE	1	154459139	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	155840	154459139	94791482	991	4607											
TDRD10	126668	broad.mit.edu	37	1	154493951	154493951	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:154493951C>T	ENST00000368482.4	+	6	1203	c.365C>T	c.(364-366)cCg>cTg	p.P122L	TDRD10_ENST00000479937.1_3'UTR|TDRD10_ENST00000368480.3_Missense_Mutation_p.P122L	NM_001098475.1|NM_182499.3	NP_001091945.1|NP_872305.3	Q5VZ19	TDR10_HUMAN	tudor domain containing 10	122							nucleotide binding|RNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			CCTCGGGCCCCGCTGGTATGT	0.527													87	105					0	0	1	0	0	T	154493951	C	T	154493951	3	4	81	1	0	0	0	0	1	0	0	0	15790	652	23	1	383	1	TDRD10	1	154493951	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	34812	154493951	94756670	992	4608											
UBE2Q1	55585	broad.mit.edu	37	1	154524631	154524631	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:154524631C>T	ENST00000292211.4	-	8	983	c.904G>A	c.(904-906)Gat>Aat	p.D302N		NM_017582.6	NP_060052.3	Q7Z7E8	UB2Q1_HUMAN	ubiquitin-conjugating enzyme E2Q family member 1	302							ATP binding|protein binding|ubiquitin-protein ligase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1)	16	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			ATCTGGAGATCGTTGTGCAAA	0.493													48	78					0	0	1	0	0	T	154524631	C	T	154524631	3	4	81	1	0	0	0	0	1	0	0	0	16930	884	31	1	388	1	UBE2Q1	1	154524631	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	30680	154524631	94725990	993	4609											
ADAR	103	broad.mit.edu	37	1	154562663	154562663	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:154562663C>T	ENST00000368474.4	-	7	2692	c.2493G>A	c.(2491-2493)aaG>aaA	p.K831K	ADAR_ENST00000368471.3_Silent_p.K536K|ADAR_ENST00000292205.5_Silent_p.K874K	NM_001111.4|NM_015840.3|NM_015841.3	NP_001102|NP_056655.2|NP_056656.2	P55265	DSRAD_HUMAN	adenosine deaminase, RNA-specific	831					adenosine to inosine editing|gene silencing by RNA|mRNA modification|mRNA processing|type I interferon-mediated signaling pathway	cytoplasm|nucleolus|nucleoplasm	DNA binding|double-stranded RNA adenosine deaminase activity|metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)		TCTTAACTGTCTTTGGCTGTG	0.537													22	23					0	0	1	0	0	T	154562663	C	T	154562663	2	4	81	1	0	0	0	0	0	0	0	1	280	912	32	2		2	ADAR	1	154562663	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	38032	154562663	94687958	994	4610											
ADAR	103	broad.mit.edu	37	1	154574233	154574233	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:154574233G>A	ENST00000368474.4	-	2	1084	c.885C>T	c.(883-885)gaC>gaT	p.D295D	ADAR_ENST00000368471.3_5'UTR|ADAR_ENST00000292205.5_Silent_p.D338D	NM_001111.4|NM_015840.3|NM_015841.3	NP_001102|NP_056655.2|NP_056656.2	P55265	DSRAD_HUMAN	adenosine deaminase, RNA-specific	295					adenosine to inosine editing|gene silencing by RNA|mRNA modification|mRNA processing|type I interferon-mediated signaling pathway	cytoplasm|nucleolus|nucleoplasm	DNA binding|double-stranded RNA adenosine deaminase activity|metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)		TCTCGGCCATGTCTAAAAACT	0.478													8	151					0	0	1	0	0	A	154574233	G	A	154574233	2	1	81	1	0	0	0	0	0	0	0	1	280	1368	48	2		2	ADAR	1	154574233	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	11570	154574233	94676388	995	4611											
PMVK	10654	broad.mit.edu	37	1	154898882	154898882	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:154898882G>A	ENST00000368467.3	-	4	695	c.390C>T	c.(388-390)cgC>cgT	p.R130R		NM_006556.3	NP_006547.1	Q15126	PMVK_HUMAN	phosphomevalonate kinase	130					cholesterol biosynthetic process|protein phosphorylation	cytosol|peroxisome	ATP binding|phosphomevalonate kinase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.142)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			ACGCTACAACGCGGACCGTCT	0.627													4	34					0	0	1	0	0	A	154898882	G	A	154898882	2	1	81	1	0	0	0	0	0	0	0	1	12192	1074	38	1		1	PMVK	1	154898882	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	324649	154898882	94351739	996	4612											
PYGO2	90780	broad.mit.edu	37	1	154933454	154933454	+	Splice_Site	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:154933454T>C	ENST00000368457.2	-	2	323	c.152A>G	c.(151-153)cAg>cGg	p.Q51R	PYGO2_ENST00000483463.1_5'UTR|PYGO2_ENST00000368456.1_Splice_Site_p.Q14R	NM_138300.3	NP_612157.1	Q9BRQ0	PYGO2_HUMAN	pygopus family PHD finger 2	51	Pro-rich.				Wnt receptor signaling pathway	nucleus	protein binding|zinc ion binding			endometrium(2)|large_intestine(2)|lung(3)|skin(2)|urinary_tract(1)	10	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			ACCATTCACCTGAGTATTTGA	0.502													60	378					0	0	1	0	0	C	154933454	T	C	154933454	5	2	81	1	0	0	0	0	0	0	1	0	12916	1594	55	3	1076	3	PYGO2	1	154933454	Splice_Site	SNP	T	TCGA-DU-6392-01A-11D-1705-08	34572	154933454	94317167	997	4613											
FLAD1	80308	broad.mit.edu	37	1	154962879	154962879	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:154962879C>T	ENST00000292180.3	+	5	1751	c.1429C>T	c.(1429-1431)Cgg>Tgg	p.R477W	FLAD1_ENST00000315144.10_Missense_Mutation_p.R380W|FLAD1_ENST00000368428.1_Missense_Mutation_p.R18W|FLAD1_ENST00000368432.1_Missense_Mutation_p.R380W|FLAD1_ENST00000405236.2_Intron|FLAD1_ENST00000368433.1_3'UTR|FLAD1_ENST00000295530.2_Intron	NM_025207.4	NP_079483.3	Q8NFF5	FAD1_HUMAN	flavin adenine dinucleotide synthetase 1	477	FAD synthase.				FAD biosynthetic process|Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol	ATP binding|FMN adenylyltransferase activity			endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|ovary(3)|skin(3)	22	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			ACTGCAGGCACGGCACCCCCA	0.627													13	29					0	0	1	0	0	T	154962879	C	T	154962879	3	4	81	1	0	0	0	0	1	0	0	0	5953	527	19	1	1587	1	FLAD1	1	154962879	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	29425	154962879	94287742	998	4614											
ZBTB7B	51043	broad.mit.edu	37	1	154988695	154988695	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:154988695G>T	ENST00000368426.3	+	4	1291		c.e4-1		ZBTB7B_ENST00000535420.1_Splice_Site|ZBTB7B_ENST00000292176.2_Splice_Site|ZBTB7B_ENST00000417934.2_Splice_Site	NM_001256455.1	NP_001243384.1	O15156	ZBT7B_HUMAN	zinc finger and BTB domain containing 7B						cell differentiation|ectoderm development|multicellular organismal development|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)	29	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GCCTGTGCCAGGAACGACAAG	0.637													11	42					1.67772e-17	2.16604e-17	1	1	0	T	154988695	G	T	154988695	5	4	81	1	0	0	0	0	0	0	1	0	17613	1014	35	4	1160	4	ZBTB7B	1	154988695	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	25816	154988695	94261926	999	4615											
DCST2	127579	broad.mit.edu	37	1	154997063	154997063	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:154997063G>T	ENST00000368424.3	-	11	1685	c.1627C>A	c.(1627-1629)Ctg>Atg	p.L543M	DCST2_ENST00000295536.5_Missense_Mutation_p.L543M	NM_144622.2	NP_653223.2	Q5T1A1	DCST2_HUMAN	DC-STAMP domain containing 2	543						integral to membrane		p.L543M(1)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|prostate(1)|skin(1)	38	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			ACATTGTACAGGTAGGAGATC	0.592													4	31					0.184627	0.18622	1	1	0	T	154997063	G	T	154997063	3	4	81	1	0	0	0	0	1	0	0	0	4326	991	35	4	714	4	DCST2	1	154997063	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	8368	154997063	94253558	1000	4616											
DCST2	127579	broad.mit.edu	37	1	155003095	155003095	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:155003095G>A	ENST00000368424.3	-	6	890	c.832C>T	c.(832-834)Cgt>Tgt	p.R278C	DCST2_ENST00000295536.5_Missense_Mutation_p.R278C	NM_144622.2	NP_653223.2	Q5T1A1	DCST2_HUMAN	DC-STAMP domain containing 2	278						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|prostate(1)|skin(1)	38	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			AACTCCTGACGCACCCGGTTG	0.617													10	37					0	0	1	0	0	A	155003095	G	A	155003095	3	1	81	1	0	0	0	0	1	0	0	0	4326	1087	38	1	1529	1	DCST2	1	155003095	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	6032	155003095	94247526	1001	4617											
DCST2	127579	broad.mit.edu	37	1	155005152	155005152	+	Nonsense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:155005152T>A	ENST00000368424.3	-	3	590	c.532A>T	c.(532-534)Aaa>Taa	p.K178*	DCST2_ENST00000295536.5_Nonsense_Mutation_p.K178*	NM_144622.2	NP_653223.2	Q5T1A1	DCST2_HUMAN	DC-STAMP domain containing 2	178						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|prostate(1)|skin(1)	38	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			CCTATGTGTTTCACACCATCC	0.532													13	58					0	0	1	0	0	A	155005152	T	A	155005152	4	1	81	1	0	0	0	0	0	1	0	0	4326	1792	62	5	1841	5	DCST2	1	155005152	Nonsense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	2057	155005152	94245469	1002	4618											
ADAM15	8751	broad.mit.edu	37	1	155029698	155029698	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:155029698C>T	ENST00000356955.2	+	12	1284	c.1183C>T	c.(1183-1185)Cga>Tga	p.R395*	ADAM15_ENST00000271836.6_Nonsense_Mutation_p.R395*|ADAM15_ENST00000360674.4_Nonsense_Mutation_p.R395*|ADAM15_ENST00000368410.2_Nonsense_Mutation_p.R101*|ADAM15_ENST00000472434.1_3'UTR|ADAM15_ENST00000447332.3_Nonsense_Mutation_p.R379*|ADAM15_ENST00000449910.2_Nonsense_Mutation_p.R395*|ADAM15_ENST00000359280.4_Nonsense_Mutation_p.R395*|ADAM15_ENST00000531455.1_Nonsense_Mutation_p.R405*|ADAM15_ENST00000355956.2_Nonsense_Mutation_p.R395*|ADAM15_ENST00000368413.1_Nonsense_Mutation_p.R101*|ADAM15_ENST00000368412.3_Nonsense_Mutation_p.R395*	NM_207197.2	NP_997080.1	Q13444	ADA15_HUMAN	ADAM metallopeptidase domain 15	395	Peptidase M12B.				angiogenesis|cell-matrix adhesion|collagen catabolic process|proteolysis	acrosomal vesicle|adherens junction|endomembrane system|flagellum|integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(5)|urinary_tract(1)	39	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			CAACTGCAGCCGACGGGCCCT	0.632													13	21					0	0	1	0	0	T	155029698	C	T	155029698	4	4	81	1	0	0	0	0	0	1	0	0	236	644	23	1	1229	1	ADAM15	1	155029698	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	24546	155029698	94220923	1003	4619											
EFNA4	1945	broad.mit.edu	37	1	155039407	155039407	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:155039407T>C	ENST00000368409.3	+	2	408	c.315T>C	c.(313-315)caT>caC	p.H105H	EFNA4_ENST00000359751.4_Silent_p.H105H|EFNA4_ENST00000427683.2_Silent_p.H105H|EFNA3_ENST00000556931.1_Intron|EFNA3_ENST00000505139.1_Intron	NM_005227.2	NP_005218.1			ephrin-A4											breast(1)|endometrium(1)|large_intestine(1)|ovary(1)	4	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			CCTTTGGCCATGTTCAATTCT	0.562													6	50					0	0	1	0	0	C	155039407	T	C	155039407	2	2	81	1	0	0	0	0	0	0	0	1	4979	1461	51	3		3	EFNA4	1	155039407	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	9709	155039407	94211214	1004	4620											
EFNA3	1944	broad.mit.edu	37	1	155058919	155058919	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:155058919C>T	ENST00000368408.3	+	5	687	c.617C>T	c.(616-618)cCc>cTc	p.P206L	EFNA3_ENST00000418360.2_Missense_Mutation_p.P180L|EFNA3_ENST00000498667.1_3'UTR|EFNA3_ENST00000556931.1_Missense_Mutation_p.P201L|EFNA3_ENST00000505139.1_Missense_Mutation_p.P201L	NM_004952.4	NP_004943.1	P52797	EFNA3_HUMAN	ephrin-A3	206					cell-cell signaling	anchored to membrane|integral to plasma membrane	ephrin receptor binding|transmembrane-ephrin receptor activity			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(2)	5	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		all cancers(21;5.67e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000284)|LUSC - Lung squamous cell carcinoma(543;0.193)			CCTCAGGTGCCCAAGCTTGAG	0.627											OREG0013850	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	42	40					0	0	1	0	0	T	155058919	C	T	155058919	3	4	81	1	0	0	0	0	1	0	0	0	4978	623	22	2	635	2	EFNA3	1	155058919	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	19512	155058919	94191702	1005	4621											
EFNA1	1942	broad.mit.edu	37	1	155103872	155103872	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:155103872C>T	ENST00000368407.3	+	2	668	c.150C>T	c.(148-150)atC>atT	p.I50I	EFNA1_ENST00000469878.1_3'UTR|EFNA1_ENST00000368406.2_Silent_p.I50I	NM_004428.2	NP_004419.2	P20827	EFNA1_HUMAN	ephrin-A1	50					angiogenesis|aortic valve morphogenesis|cell migration|cell-cell signaling|endocardial cushion to mesenchymal transition involved in heart valve formation|ephrin receptor signaling pathway|mitral valve morphogenesis|negative regulation of epithelial to mesenchymal transition|negative regulation of transcription from RNA polymerase II promoter|positive regulation of peptidyl-tyrosine phosphorylation|regulation of cell adhesion mediated by integrin|substrate adhesion-dependent cell spreading	extracellular region|integral to plasma membrane	ephrin receptor binding			breast(1)|endometrium(1)|kidney(1)|lung(1)|skin(1)	5	all_epithelial(22;4.71e-30)|all_lung(78;3.15e-27)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;2.28e-10)|all cancers(21;6.16e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000395)|LUSC - Lung squamous cell carcinoma(543;0.193)			TGGACATCATCTGTCCGCACT	0.537													20	35					0	0	1	0	0	T	155103872	C	T	155103872	2	4	81	1	0	0	0	0	0	0	0	1	4976	903	32	2		2	EFNA1	1	155103872	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	44953	155103872	94146749	1006	4622											
EFNA1	1942	broad.mit.edu	37	1	155105979	155105979	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:155105979C>T	ENST00000368407.3	+	3	907	c.389C>T	c.(388-390)tCc>tTc	p.S130F	EFNA1_ENST00000469878.1_3'UTR|EFNA1_ENST00000368406.2_Intron	NM_004428.2	NP_004419.2	P20827	EFNA1_HUMAN	ephrin-A1	130					angiogenesis|aortic valve morphogenesis|cell migration|cell-cell signaling|endocardial cushion to mesenchymal transition involved in heart valve formation|ephrin receptor signaling pathway|mitral valve morphogenesis|negative regulation of epithelial to mesenchymal transition|negative regulation of transcription from RNA polymerase II promoter|positive regulation of peptidyl-tyrosine phosphorylation|regulation of cell adhesion mediated by integrin|substrate adhesion-dependent cell spreading	extracellular region|integral to plasma membrane	ephrin receptor binding			breast(1)|endometrium(1)|kidney(1)|lung(1)|skin(1)	5	all_epithelial(22;4.71e-30)|all_lung(78;3.15e-27)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;2.28e-10)|all cancers(21;6.16e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000395)|LUSC - Lung squamous cell carcinoma(543;0.193)			TATCTTGCAGCCAAACCCATC	0.507													22	42					0	0	1	0	0	T	155105979	C	T	155105979	5	4	81	1	0	0	0	0	0	0	1	0	4976	753	26	2	399	2	EFNA1	1	155105979	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2107	155105979	94144642	1007	4623											
TRIM46	80128	broad.mit.edu	37	1	155152225	155152225	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:155152225G>A	ENST00000392451.2	+	9	1524	c.1441G>A	c.(1441-1443)Gca>Aca	p.A481T	TRIM46_ENST00000543729.1_Missense_Mutation_p.A488T|TRIM46_ENST00000468878.1_3'UTR|TRIM46_ENST00000334634.4_Missense_Mutation_p.R468H|TRIM46_ENST00000545012.1_Missense_Mutation_p.R342H|TRIM46_ENST00000368382.1_Missense_Mutation_p.R445H|TRIM46_ENST00000368385.4_Missense_Mutation_p.R468H|RP11-201K10.3_ENST00000473363.2_Intron|TRIM46_ENST00000368383.3_Missense_Mutation_p.R468H			Q7Z4K8	TRI46_HUMAN	tripartite motif containing 46	169	Fibronectin type-III.					intracellular	zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	29	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			GAGTTCCGGCGCACGGATGTG	0.652													8	17					0	0	1	0	0	A	155152225	G	A	155152225	3	1	81	1	0	0	0	0	1	0	0	0	16582	1087	38	1	1433	1	TRIM46	1	155152225	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	46246	155152225	94098396	1008	4624											
MUC1	4582	broad.mit.edu	37	1	155161934	155161934	+	Missense_Mutation	SNP	C	C	T	rs149173724	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:155161934C>T	ENST00000368395.1	-	2	270	c.199G>A	c.(199-201)Ggt>Agt	p.G67S	MUC1_ENST00000462215.1_Intron|MUC1_ENST00000368392.3_Intron|MUC1_ENST00000343256.5_Intron|MUC1_ENST00000337604.5_Intron|MUC1_ENST00000338684.5_Intron|MUC1_ENST00000438413.1_Intron|MUC1_ENST00000368398.3_Intron|MUC1_ENST00000368396.4_Intron|MUC1_ENST00000368393.3_Intron|MUC1_ENST00000368389.2_Intron|MUC1_ENST00000368390.3_Intron|MUC1_ENST00000457295.2_Intron|MUC1_ENST00000342482.4_Intron	NM_001204285.1|NM_001204286.1	NP_001191214.1|NP_001191215.1	P15941	MUC1_HUMAN	mucin 1, cell surface associated	849						apical plasma membrane|cell surface|cytoplasm|extracellular region|integral to plasma membrane|nucleus	protein binding			breast(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|skin(2)	10	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;5.31e-10)|all cancers(21;2.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			GAGCCTGAACCGGGGCTGTGG	0.587			T	IGH@	B-NHL								54	73					0	0	1	0	0	T	155161934	C	T	155161934	3	4	81	1	0	0	0	0	1	0	0	0	10018	667	23	1		1	MUC1	1	155161934	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	9709	155161934	94088687	1009	4625											
THBS3	7059	broad.mit.edu	37	1	155169847	155169847	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:155169847C>A	ENST00000368378.3	-	15	1786	c.1766G>T	c.(1765-1767)aGg>aTg	p.R589M	RP11-263K19.4_ENST00000447623.1_RNA|RP11-263K19.4_ENST00000436772.1_RNA|RP11-263K19.4_ENST00000454348.1_RNA|THBS3_ENST00000541990.1_Missense_Mutation_p.R118M|RP11-263K19.4_ENST00000453136.1_RNA|THBS3_ENST00000457183.2_Missense_Mutation_p.R469M|THBS3_ENST00000541576.1_De_novo_Start_InFrame	NM_001252607.1|NM_007112.4	NP_001239536.1|NP_009043.1	P49746	TSP3_HUMAN	thrombospondin 3	589					cell-matrix adhesion	extracellular region|perinuclear region of cytoplasm	calcium ion binding|heparin binding|structural molecule activity			breast(6)|endometrium(4)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(3)	48	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			GTCCTCATCCCTGTCTGTCTG	0.532													11	63					0.000978159	0.00104673	1	1	0	A	155169847	C	A	155169847	3	1	81	1	0	0	0	0	1	0	0	0	15915	681	24	4	1140	4	THBS3	1	155169847	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	7913	155169847	94080774	1010	4626											
THBS3	7059	broad.mit.edu	37	1	155174654	155174654	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:155174654T>G	ENST00000368378.3	-	4	658	c.638A>C	c.(637-639)cAc>cCc	p.H213P	THBS3_ENST00000486260.1_5'UTR|RP11-263K19.4_ENST00000422665.1_RNA|THBS3_ENST00000541990.1_Intron|RP11-263K19.4_ENST00000453136.1_RNA|RP11-263K19.4_ENST00000430312.1_RNA|THBS3_ENST00000457183.2_Intron	NM_001252607.1|NM_007112.4	NP_001239536.1|NP_009043.1	P49746	TSP3_HUMAN	thrombospondin 3	213					cell-matrix adhesion	extracellular region|perinuclear region of cytoplasm	calcium ion binding|heparin binding|structural molecule activity			breast(6)|endometrium(4)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(3)	48	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			ACCTGCACTGTGGATGGACTC	0.532													9	113					0	0	1	0	0	G	155174654	T	G	155174654	3	3	81	1	0	0	0	0	1	0	0	0	15915	1696	59	5	2312	5	THBS3	1	155174654	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	4807	155174654	94075967	1011	4627											
MTX1	4580	broad.mit.edu	37	1	155178807	155178807	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:155178807C>T	ENST00000368376.3	+	1	318	c.212C>T	c.(211-213)gCg>gTg	p.A71V	THBS3_ENST00000486260.1_5'UTR|MTX1_ENST00000316721.4_Missense_Mutation_p.A71V	NM_002455.3	NP_002446.2	Q13505	MTX1_HUMAN	metaxin 1	71					protein targeting to mitochondrion	integral to membrane|mitochondrial outer membrane	protein binding			breast(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	7	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			GGGCCGACAGCGCTGTCCCGC	0.751													5	5					0	0	1	0	0	T	155178807	C	T	155178807	3	4	81	1	0	0	0	0	1	0	0	0	10015	768	27	1	214	1	MTX1	1	155178807	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	4153	155178807	94071814	1012	4628											
FAM189B	10712	broad.mit.edu	37	1	155217722	155217722	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:155217722G>T	ENST00000361361.2	-	12	2367	c.1858C>A	c.(1858-1860)Cct>Act	p.P620T	FAM189B_ENST00000368368.3_Missense_Mutation_p.P602T|FAM189B_ENST00000350210.2_Missense_Mutation_p.P524T	NM_006589.2	NP_006580.2	P81408	F189B_HUMAN	family with sequence similarity 189, member B	620						integral to membrane	WW domain binding			breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	23						TCTCGGCCAGGCCGGCCCCAC	0.617													5	11					5.68852e-11	7.00816e-11	1	1	0	T	155217722	G	T	155217722	3	4	81	1	0	0	0	0	1	0	0	0	5549	1203	42	5	152	5	FAM189B	1	155217722	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	38915	155217722	94032899	1013	4629											
FAM189B	10712	broad.mit.edu	37	1	155218211	155218211	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:155218211A>G	ENST00000361361.2	-	10	2073	c.1564T>C	c.(1564-1566)Tcc>Ccc	p.S522P	FAM189B_ENST00000368368.3_Missense_Mutation_p.S504P|FAM189B_ENST00000350210.2_Missense_Mutation_p.S426P	NM_006589.2	NP_006580.2	P81408	F189B_HUMAN	family with sequence similarity 189, member B	522						integral to membrane	WW domain binding			breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	23						TCTGCAGAGGAAACAGAAGCA	0.532													20	25					0	0	1	0	0	G	155218211	A	G	155218211	3	3	81	1	0	0	0	0	1	0	0	0	5549	246	9	3	454	3	FAM189B	1	155218211	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	489	155218211	94032410	1014	4630											
FAM189B	10712	broad.mit.edu	37	1	155220472	155220472	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:155220472G>A	ENST00000361361.2	-	9	1614	c.1105C>T	c.(1105-1107)Cgc>Tgc	p.R369C	FAM189B_ENST00000368368.3_Missense_Mutation_p.R351C|FAM189B_ENST00000350210.2_Missense_Mutation_p.R273C	NM_006589.2	NP_006580.2	P81408	F189B_HUMAN	family with sequence similarity 189, member B	369						integral to membrane	WW domain binding			breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	23						GCACGGCTGCGCTGGATGGAG	0.706											OREG0013858	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	16					0	0	1	0	0	A	155220472	G	A	155220472	3	1	81	1	0	0	0	0	1	0	0	0	5549	1087	38	1	917	1	FAM189B	1	155220472	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2261	155220472	94030149	1015	4631											
CLK2	1196	broad.mit.edu	37	1	155233072	155233072	+	Silent	SNP	G	G	A	rs146354358		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:155233072G>A	ENST00000368361.4	-	13	1752	c.1437C>T	c.(1435-1437)ttC>ttT	p.F479F	CLK2_ENST00000361168.5_Silent_p.F478F|CLK2_ENST00000355560.4_Silent_p.F477F|CLK2_ENST00000497188.1_5'UTR|CLK2_ENST00000536801.1_Silent_p.F479F			P49760	CLK2_HUMAN	CDC-like kinase 2	479	Protein kinase.					nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			endometrium(4)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	22	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			GAAGGCGGGCGAAGAAAGGAT	0.562								Other conserved DNA damage response genes					21	27					0	0	1	0	0	A	155233072	G	A	155233072	2	1	81	1	0	0	0	0	0	0	0	1	3560	1049	37	1		1	CLK2	1	155233072	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	12600	155233072	94017549	1016	4632											
HCN3	57657	broad.mit.edu	37	1	155254415	155254415	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:155254415C>A	ENST00000368358.3	+	4	964	c.956C>A	c.(955-957)cCt>cAt	p.P319H	HCN3_ENST00000496230.1_3'UTR	NM_020897.2	NP_065948.1	Q9P1Z3	HCN3_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 3	319						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			CAGCAGGCACCTGTAGGCATG	0.597													20	34					1.22574e-08	1.46304e-08	1	1	0	A	155254415	C	A	155254415	3	1	81	1	0	0	0	0	1	0	0	0	7039	681	24	4	970	4	HCN3	1	155254415	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	21343	155254415	93996206	1017	4633											
HCN3	57657	broad.mit.edu	37	1	155258082	155258082	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:155258082C>A	ENST00000368358.3	+	8	2161	c.2153C>A	c.(2152-2154)tCt>tAt	p.S718Y	HCN3_ENST00000496230.1_3'UTR	NM_020897.2	NP_065948.1	Q9P1Z3	HCN3_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 3	718	Pro-rich.					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			TCCCAACCCTCTCTGCCTCAG	0.692													6	14					0.0381472	0.0389402	1	1	0	A	155258082	C	A	155258082	3	1	81	1	0	0	0	0	1	0	0	0	7039	913	32	4	2183	4	HCN3	1	155258082	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3667	155258082	93992539	1018	4634	16	2									
HCN3	57657	broad.mit.edu	37	1	155258092	155258092	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:155258092G>T	ENST00000368358.3	+	8	2171	c.2163G>T	c.(2161-2163)caG>caT	p.Q721H	HCN3_ENST00000496230.1_3'UTR	NM_020897.2	NP_065948.1	Q9P1Z3	HCN3_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 3	721	Pro-rich.					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			CTCTGCCTCAGCGGGCAACAG	0.692													3	18					0.000602214	0.000646338	1	1	0	T	155258092	G	T	155258092	3	4	81	1	0	0	0	0	1	0	0	0	7039	962	34	4	2193	4	HCN3	1	155258092	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	10	155258092	93992529	1019	4635	16	2									
ASH1L	55870	broad.mit.edu	37	1	155311800	155311800	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:155311800C>T	ENST00000368346.3	-	25	9041	c.8402G>A	c.(8401-8403)cGc>cAc	p.R2801H	ASH1L_ENST00000392403.3_Missense_Mutation_p.R2796H			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	2801					cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			GACAGGATAGCGGTTCCGGTG	0.463													60	100					0	0	1	0	0	T	155311800	C	T	155311800	3	4	81	1	0	0	0	0	1	0	0	0	1040	768	27	1	523	1	ASH1L	1	155311800	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	53708	155311800	93938821	1020	4636											
ASH1L	55870	broad.mit.edu	37	1	155317611	155317611	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:155317611C>T	ENST00000368346.3	-	20	8293	c.7654G>A	c.(7654-7656)Gcc>Acc	p.A2552T	ASH1L_ENST00000392403.3_Missense_Mutation_p.A2547T			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	2552					cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			TCAATCTGGGCTGATGCCTCA	0.488													51	82					0	0	1	0	0	T	155317611	C	T	155317611	3	4	81	1	0	0	0	0	1	0	0	0	1040	797	28	2	1291	2	ASH1L	1	155317611	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	5811	155317611	93933010	1021	4637											
ASH1L	55870	broad.mit.edu	37	1	155349914	155349915	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:155349914_155349915insA	ENST00000368346.3	-	8	6750_6751	c.6111_6112insT	c.(6109-6114)tttgttfs	p.V2038fs	ASH1L_ENST00000392403.3_Intron			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	2038					cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			TTTCCTGAAACAAAAAACACTA	0.322													21	58	---	---	---	---						A	155349915	-	A	155349914	7	5	81	1	0	1	1	0	0	0	0	0	1040	493	17	0		0	ASH1L	1	155349914	Frame_Shift_Ins	INS	-	TCGA-DU-6392-01A-11D-1705-08	32303	155349914	93900707	1022	4638											
ASH1L	55870	broad.mit.edu	37	1	155447933	155447933	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:155447933C>A	ENST00000368346.3	-	3	5367	c.4728G>T	c.(4726-4728)caG>caT	p.Q1576H	ASH1L_ENST00000392403.3_Missense_Mutation_p.Q1576H			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	1576					cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			AACAGTCAATCTGTAAAGGTG	0.458													34	30					2.20474e-14	2.79721e-14	1	1	0	A	155447933	C	A	155447933	3	1	81	1	0	0	0	0	1	0	0	0	1040	912	32	4	4270	4	ASH1L	1	155447933	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	98019	155447933	93802688	1023	4639											
ASH1L	55870	broad.mit.edu	37	1	155449532	155449532	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:155449532T>C	ENST00000368346.3	-	3	3768	c.3129A>G	c.(3127-3129)ggA>ggG	p.G1043G	ASH1L_ENST00000392403.3_Silent_p.G1043G			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	1043					cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			TATAAATGGTTCCTTTCTTGC	0.398													15	75					0	0	1	0	0	C	155449532	T	C	155449532	2	2	81	1	0	0	0	0	0	0	0	1	1040	1770	62	3		3	ASH1L	1	155449532	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	1599	155449532	93801089	1024	4640											
YY1AP1	55249	broad.mit.edu	37	1	155642405	155642405	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:155642405A>C	ENST00000368340.5	-	6	1051	c.943T>G	c.(943-945)Ttc>Gtc	p.F315V	YY1AP1_ENST00000359205.5_Missense_Mutation_p.F166V|MSTO1_ENST00000538143.1_Intron|YY1AP1_ENST00000438245.2_Missense_Mutation_p.F177V|YY1AP1_ENST00000311573.5_Missense_Mutation_p.F166V|YY1AP1_ENST00000407221.1_Missense_Mutation_p.F166V|YY1AP1_ENST00000476093.1_5'UTR|YY1AP1_ENST00000405763.3_Missense_Mutation_p.F315V|YY1AP1_ENST00000404643.1_Missense_Mutation_p.F177V|YY1AP1_ENST00000535662.1_Missense_Mutation_p.F43V|YY1AP1_ENST00000347088.5_Missense_Mutation_p.F177V|YY1AP1_ENST00000355499.4_Missense_Mutation_p.F177V|MSTO1_ENST00000452804.2_Intron|YY1AP1_ENST00000368339.5_Missense_Mutation_p.F315V|YY1AP1_ENST00000295566.4_Missense_Mutation_p.F243V|YY1AP1_ENST00000368330.2_Missense_Mutation_p.F177V|YY1AP1_ENST00000361831.5_Missense_Mutation_p.F166V	NM_001198904.1	NP_001185833.1			YY1 associated protein 1											central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(7)|ovary(2)|skin(2)|urinary_tract(2)	31	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)					TGTGTGCTGAAGTCTTCAATC	0.473													20	23					0	0	1	0	0	C	155642405	A	C	155642405	3	2	81	1	0	0	0	0	1	0	0	0	17568	72	3	5	1743	5	YY1AP1	1	155642405	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	192873	155642405	93608216	1025	4641											
YY1AP1	55249	broad.mit.edu	37	1	155649201	155649201	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:155649201G>A	ENST00000368340.5	-	3	646	c.538C>T	c.(538-540)Cgg>Tgg	p.R180W	YY1AP1_ENST00000359205.5_Splice_Site_p.R31W|MSTO1_ENST00000538143.1_Intron|YY1AP1_ENST00000438245.2_Splice_Site_p.R42W|YY1AP1_ENST00000311573.5_Splice_Site_p.R31W|YY1AP1_ENST00000407221.1_Splice_Site_p.R31W|YY1AP1_ENST00000476093.1_5'UTR|YY1AP1_ENST00000405763.3_Splice_Site_p.R180W|YY1AP1_ENST00000404643.1_Splice_Site_p.R42W|YY1AP1_ENST00000347088.5_Splice_Site_p.R42W|YY1AP1_ENST00000355499.4_Splice_Site_p.R42W|MSTO1_ENST00000452804.2_Intron|YY1AP1_ENST00000368339.5_Splice_Site_p.R180W|YY1AP1_ENST00000295566.4_Splice_Site_p.R108W|YY1AP1_ENST00000368330.2_Splice_Site_p.R42W|YY1AP1_ENST00000361831.5_Splice_Site_p.R31W	NM_001198904.1	NP_001185833.1			YY1 associated protein 1											central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(7)|ovary(2)|skin(2)|urinary_tract(2)	31	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)					CTAGCCTACCGTAGAGCTTGA	0.453													20	51					0	0	1	0	0	A	155649201	G	A	155649201	5	1	81	1	0	0	0	0	0	0	1	0	17568	1159	40	1	2160	1	YY1AP1	1	155649201	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	6796	155649201	93601420	1026	4642											
YY1AP1	55249	broad.mit.edu	37	1	155649258	155649258	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:155649258C>A	ENST00000368340.5	-	3	589	c.481G>T	c.(481-483)Gaa>Taa	p.E161*	YY1AP1_ENST00000359205.5_Nonsense_Mutation_p.E12*|MSTO1_ENST00000538143.1_Intron|YY1AP1_ENST00000438245.2_Nonsense_Mutation_p.E23*|YY1AP1_ENST00000311573.5_Nonsense_Mutation_p.E12*|YY1AP1_ENST00000407221.1_Nonsense_Mutation_p.E12*|YY1AP1_ENST00000476093.1_5'UTR|YY1AP1_ENST00000405763.3_Nonsense_Mutation_p.E161*|YY1AP1_ENST00000404643.1_Nonsense_Mutation_p.E23*|YY1AP1_ENST00000347088.5_Nonsense_Mutation_p.E23*|YY1AP1_ENST00000355499.4_Nonsense_Mutation_p.E23*|MSTO1_ENST00000452804.2_Intron|YY1AP1_ENST00000368339.5_Nonsense_Mutation_p.E161*|YY1AP1_ENST00000295566.4_Nonsense_Mutation_p.E89*|YY1AP1_ENST00000368330.2_Nonsense_Mutation_p.E23*|YY1AP1_ENST00000361831.5_Nonsense_Mutation_p.E12*	NM_001198904.1	NP_001185833.1			YY1 associated protein 1											central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(7)|ovary(2)|skin(2)|urinary_tract(2)	31	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)					TCCTCCTCTTCTGGGCCATCA	0.493													24	63					4.7796e-09	5.73439e-09	1	1	0	A	155649258	C	A	155649258	4	1	81	1	0	0	0	0	0	1	0	0	17568	922	32	4	2217	4	YY1AP1	1	155649258	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	57	155649258	93601363	1027	4643											
DAP3	7818	broad.mit.edu	37	1	155695804	155695804	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:155695804C>A	ENST00000368336.5	+	6	590	c.466C>A	c.(466-468)Cca>Aca	p.P156T	MSTO1_ENST00000538143.1_Intron|DAP3_ENST00000535183.1_Missense_Mutation_p.P115T|DAP3_ENST00000343043.3_Missense_Mutation_p.P156T|MSTO1_ENST00000452804.2_Intron|DAP3_ENST00000421487.2_Missense_Mutation_p.P122T|DAP3_ENST00000496863.1_Intron|DAP3_ENST00000471642.2_Missense_Mutation_p.P115T	NM_001199849.1|NM_004632.3	NP_001186778.1|NP_004623.1	P51398	RT29_HUMAN	death associated protein 3	156					induction of apoptosis by extracellular signals	mitochondrial ribosome|nucleolus|small ribosomal subunit	protein binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	24	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)					ACTACATATTCCAGATGGTAA	0.368													12	48					9.31168e-06	1.05369e-05	1	1	0	A	155695804	C	A	155695804	3	1	81	1	0	0	0	0	1	0	0	0	4258	855	30	5	484	5	DAP3	1	155695804	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	46546	155695804	93554817	1028	4644											
MSTO1	55154	broad.mit.edu	37	1	155717733	155717733	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:155717733G>T	ENST00000452804.2	+	7	1001	c.940G>T	c.(940-942)Gtg>Ttg	p.V314L				Q9BUK6	MSTO1_HUMAN	misato 1, mitochondrial distribution and morphology regulator	0					mitochondrion distribution|protein polymerization	mitochondrial outer membrane|protein complex				breast(2)|endometrium(1)|lung(3)|skin(1)	7	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)					CATTGGGAGAGTGGCTTAATG	0.488													4	30					0.150653	0.152522	1	1	0	T	155717733	G	T	155717733	3	4	81	1	0	0	0	0	1	0	0	0	9942	1044	36	4		4	MSTO1	1	155717733	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	21929	155717733	93532888	1029	4645											
GON4L	54856	broad.mit.edu	37	1	155735951	155735951	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:155735951G>T	ENST00000437809.1	-	21	3435	c.3313C>A	c.(3313-3315)Ctt>Att	p.L1105I	GON4L_ENST00000471341.1_5'UTR|GON4L_ENST00000361040.5_Missense_Mutation_p.L1105I|GON4L_ENST00000368331.1_Missense_Mutation_p.L1105I|GON4L_ENST00000271883.5_Missense_Mutation_p.L1105I	NM_001282856.1	NP_001269785.1	Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	1105					regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					GAAGGGGCAAGGGAGGGCAGC	0.557													7	95					0.00198382	0.00209725	1	1	0	T	155735951	G	T	155735951	3	4	81	1	0	0	0	0	1	0	0	0	6611	1000	35	4	3574	4	GON4L	1	155735951	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	18218	155735951	93514670	1030	4646											
GON4L	54856	broad.mit.edu	37	1	155740923	155740923	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:155740923C>T	ENST00000437809.1	-	19	2703	c.2581G>A	c.(2581-2583)Gcc>Acc	p.A861T	GON4L_ENST00000471341.1_5'UTR|GON4L_ENST00000361040.5_Missense_Mutation_p.A861T|GON4L_ENST00000368331.1_Missense_Mutation_p.A861T|GON4L_ENST00000271883.5_Missense_Mutation_p.A861T	NM_001282856.1	NP_001269785.1	Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	861					regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					AGTTGGTGGGCAGTTTTGCAG	0.443													37	71					0	0	1	0	0	T	155740923	C	T	155740923	3	4	81	1	0	0	0	0	1	0	0	0	6611	710	25	2	4314	2	GON4L	1	155740923	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	4972	155740923	93509698	1031	4647											
GON4L	54856	broad.mit.edu	37	1	155774865	155774865	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:155774865C>T	ENST00000437809.1	-	11	1642	c.1520G>A	c.(1519-1521)gGc>gAc	p.G507D	GON4L_ENST00000471341.1_5'UTR|GON4L_ENST00000361040.5_Missense_Mutation_p.G507D|GON4L_ENST00000368331.1_Missense_Mutation_p.G507D|GON4L_ENST00000271883.5_Missense_Mutation_p.G507D	NM_001282856.1	NP_001269785.1	Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	507					regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					CTCTAATTGGCCCAGGGGAAC	0.502													29	89					0	0	1	0	0	T	155774865	C	T	155774865	3	4	81	1	0	0	0	0	1	0	0	0	6611	739	26	2	5407	2	GON4L	1	155774865	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	33942	155774865	93475756	1032	4648											
KIAA0907	22889	broad.mit.edu	37	1	155884087	155884087	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:155884087G>T	ENST00000368321.3	-	14	1693	c.1670C>A	c.(1669-1671)aCt>aAt	p.T557N	KIAA0907_ENST00000368320.3_3'UTR	NM_014949.2	NP_055764.2	Q7Z7F0	K0907_HUMAN	KIAA0907	557										breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)			CTTCTCTGTAGTTTTCATCTT	0.403													40	22					4.14481e-20	5.40549e-20	1	1	0	T	155884087	G	T	155884087	3	4	81	1	0	0	0	0	1	0	0	0	8241	1029	36	4	178	4	KIAA0907	1	155884087	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	109222	155884087	93366534	1033	4649											
KIAA0907	22889	broad.mit.edu	37	1	155899590	155899590	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:155899590C>A	ENST00000368320.3	-	3	322	c.297G>T	c.(295-297)aaG>aaT	p.K99N	KIAA0907_ENST00000482337.1_5'UTR|KIAA0907_ENST00000368321.3_Missense_Mutation_p.K99N|KIAA0907_ENST00000368319.3_Missense_Mutation_p.K99N			Q7Z7F0	K0907_HUMAN	KIAA0907	99										breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)			CCAGGTCATCCTTGCTTTTAT	0.393													6	57					0.0381472	0.0389402	1	1	0	A	155899590	C	A	155899590	3	1	81	1	0	0	0	0	1	0	0	0	8241	680	24	4	1595	4	KIAA0907	1	155899590	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	15503	155899590	93351031	1034	4650											
RXFP4	339403	broad.mit.edu	37	1	155912066	155912066	+	Missense_Mutation	SNP	G	G	A	rs145457936		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:155912066G>A	ENST00000368318.3	+	1	587	c.566G>A	c.(565-567)cGc>cAc	p.R189H		NM_181885.2	NP_871001.1	Q8TDU9	RL3R2_HUMAN	relaxin/insulin-like family peptide receptor 4	189						integral to membrane|plasma membrane	angiotensin type II receptor activity			endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	13	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					TGTGGTGTGCGCCTTTGCCTG	0.662													28	50					0	0	1	0	0	A	155912066	G	A	155912066	3	1	81	1	0	0	0	0	1	0	0	0	13814	1087	38	1	568	1	RXFP4	1	155912066	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	12476	155912066	93338555	1035	4651											
ARHGEF2	9181	broad.mit.edu	37	1	155932403	155932403	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:155932403C>T	ENST00000462460.2	-	13	1471	c.1217G>A	c.(1216-1218)cGc>cAc	p.R406H	ARHGEF2_ENST00000368316.1_Missense_Mutation_p.R333H|ARHGEF2_ENST00000368315.4_Missense_Mutation_p.R362H|ARHGEF2_ENST00000477754.2_Intron|ARHGEF2_ENST00000313695.7_Missense_Mutation_p.R333H|ARHGEF2_ENST00000361247.4_Missense_Mutation_p.R361H|ARHGEF2_ENST00000313667.4_Missense_Mutation_p.R360H			Q92974	ARHG2_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 2		DH.				actin filament organization|apoptosis|cell division|cell morphogenesis|induction of apoptosis by extracellular signals|intracellular protein transport|mitosis|negative regulation of microtubule depolymerization|nerve growth factor receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|regulation of cell proliferation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|Golgi apparatus|microtubule|ruffle membrane|spindle|tight junction	microtubule binding|Rac GTPase binding|Rac guanyl-nucleotide exchange factor activity|zinc ion binding	p.R333H(1)		breast(4)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|skin(2)	40	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					TTGCTGGAAGCGTTTGTCTCG	0.577													40	54					0	0	1	0	0	T	155932403	C	T	155932403	3	4	81	1	0	0	0	0	1	0	0	0	900	768	27	1	1934	1	ARHGEF2	1	155932403	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	20337	155932403	93318218	1036	4652											
ARHGEF2	9181	broad.mit.edu	37	1	155932767	155932767	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:155932767C>T	ENST00000462460.2	-	12	1321	c.1067G>A	c.(1066-1068)cGg>cAg	p.R356Q	ARHGEF2_ENST00000368316.1_Missense_Mutation_p.R283Q|ARHGEF2_ENST00000368315.4_Missense_Mutation_p.R312Q|ARHGEF2_ENST00000477754.2_Intron|ARHGEF2_ENST00000313695.7_Missense_Mutation_p.R283Q|ARHGEF2_ENST00000361247.4_Missense_Mutation_p.R311Q|ARHGEF2_ENST00000313667.4_Missense_Mutation_p.R310Q			Q92974	ARHG2_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 2		DH.				actin filament organization|apoptosis|cell division|cell morphogenesis|induction of apoptosis by extracellular signals|intracellular protein transport|mitosis|negative regulation of microtubule depolymerization|nerve growth factor receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|regulation of cell proliferation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|Golgi apparatus|microtubule|ruffle membrane|spindle|tight junction	microtubule binding|Rac GTPase binding|Rac guanyl-nucleotide exchange factor activity|zinc ion binding			breast(4)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|skin(2)	40	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					GACAAAGTTCCGGGTGCTGCC	0.597													18	40					0	0	1	0	0	T	155932767	C	T	155932767	3	4	81	1	0	0	0	0	1	0	0	0	900	652	23	1	2088	1	ARHGEF2	1	155932767	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	364	155932767	93317854	1037	4653											
RAB25	57111	broad.mit.edu	37	1	156038068	156038068	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:156038068C>T	ENST00000361084.5	+	3	488	c.247C>T	c.(247-249)Cgt>Tgt	p.R83C	RAB25_ENST00000487325.1_3'UTR	NM_020387.2	NP_065120.2	P57735	RAB25_HUMAN	RAB25, member RAS oncogene family	83					positive regulation of cell proliferation|protein transport|pseudopodium organization|small GTPase mediated signal transduction	cytoplasmic membrane-bounded vesicle|pseudopodium membrane	GTP binding|identical protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	5	Hepatocellular(266;0.158)|all_neural(408;0.195)					CAGGTACTATCGTGGTGCAGT	0.562													51	100					0	0	1	0	0	T	156038068	C	T	156038068	3	4	81	1	0	0	0	0	1	0	0	0	12964	884	31	1	257	1	RAB25	1	156038068	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	105301	156038068	93212553	1038	4654											
MEX3A	92312	broad.mit.edu	37	1	156046973	156046973	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:156046973C>T	ENST00000532414.2	-	2	954	c.955G>A	c.(955-957)Gac>Aac	p.D319N	MEX3A_ENST00000442784.1_5'UTR	NM_001093725.1	NP_001087194.1	A1L020	MEX3A_HUMAN	mex-3 RNA binding family member A	319						cytoplasmic mRNA processing body|nucleus	RNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)	9	Hepatocellular(266;0.158)|all_neural(408;0.195)					CGCCAGGCGTCGGAGTAGCGG	0.642													41	81					0	0	1	0	0	T	156046973	C	T	156046973	3	4	81	1	0	0	0	0	1	0	0	0	9559	884	31	1	611	1	MEX3A	1	156046973	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	8905	156046973	93203648	1039	4655											
LMNA	4000	broad.mit.edu	37	1	156104987	156104987	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:156104987G>A	ENST00000368300.4	+	5	1032	c.820G>A	c.(820-822)Gcc>Acc	p.A274T	LMNA_ENST00000368297.1_Missense_Mutation_p.A193T|LMNA_ENST00000448611.2_Missense_Mutation_p.A162T|LMNA_ENST00000361308.4_Missense_Mutation_p.A274T|LMNA_ENST00000496738.1_3'UTR|LMNA_ENST00000392353.3_Missense_Mutation_p.A193T|LMNA_ENST00000368301.2_Missense_Mutation_p.A274T|LMNA_ENST00000368299.3_Missense_Mutation_p.A274T|LMNA_ENST00000347559.2_Missense_Mutation_p.A274T|LMNA_ENST00000473598.2_Missense_Mutation_p.A175T	NM_170707.3	NP_733821.1	P02545	LMNA_HUMAN	lamin A/C	274	Coil 2.|Rod.				cellular component disassembly involved in apoptosis|cellular response to hypoxia|establishment or maintenance of microtubule cytoskeleton polarity|muscle organ development|positive regulation of cell aging|regulation of apoptosis|regulation of cell migration	cytoplasm|lamin filament|nuclear envelope|perinuclear region of cytoplasm	protein binding|structural molecule activity			NS(1)|endometrium(1)|kidney(1)|lung(3)|ovary(4)	10	Hepatocellular(266;0.158)					GCTGGACAATGCCAGGCAGTC	0.637									Werner syndrome;Hutchinson-Gilford Progeria Syndrome				6	64					0	0	1	0	0	A	156104987	G	A	156104987	3	1	81	1	0	0	0	0	1	0	0	0	8889	1319	46	2	838	2	LMNA	1	156104987	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	58014	156104987	93145634	1040	4656											
PMF1	11243	broad.mit.edu	37	1	156202117	156202117	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:156202117G>T	ENST00000368277.3	+	2	177	c.168G>T	c.(166-168)caG>caT	p.Q56H	PMF1_ENST00000565805.1_Missense_Mutation_p.Q56H|PMF1_ENST00000567140.1_Missense_Mutation_p.Q56H|PMF1-BGLAP_ENST00000368276.4_Missense_Mutation_p.Q56H|PMF1-BGLAP_ENST00000320139.5_Missense_Mutation_p.Q56H|PMF1_ENST00000368273.4_Intron|PMF1-BGLAP_ENST00000490491.1_Missense_Mutation_p.Q56H|PMF1_ENST00000368279.3_Missense_Mutation_p.Q56H	NM_007221.3	NP_009152.2			polyamine-modulated factor 1											kidney(1)|large_intestine(2)|lung(3)	6	Hepatocellular(266;0.158)					CCAGCTACCAGAGATTCACTG	0.537													16	182					1.02788e-11	1.2764e-11	1	1	0	T	156202117	G	T	156202117	3	4	81	1	0	0	0	0	1	0	0	0	12181	933	33	4	174	4	PMF1	1	156202117	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	97130	156202117	93048504	1041	4657											
PAQR6	79957	broad.mit.edu	37	1	156214110	156214110	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:156214110C>T	ENST00000335852.1	-	7	1213	c.598G>A	c.(598-600)Gca>Aca	p.A200T	PAQR6_ENST00000368270.1_Missense_Mutation_p.R258H|PAQR6_ENST00000356983.2_Missense_Mutation_p.A200T|PAQR6_ENST00000540423.1_Missense_Mutation_p.R279H|PAQR6_ENST00000292291.5_Missense_Mutation_p.R282H|PAQR6_ENST00000492619.1_5'UTR	NM_024897.3	NP_079173.2	Q6TCH4	PAQR6_HUMAN	progestin and adipoQ receptor family member VI	56						integral to membrane	receptor activity			lung(4)|ovary(1)	5	Hepatocellular(266;0.158)					CCAGGCTCTGCGTGATCCCAT	0.607													8	7					0	0	1	0	0	T	156214110	C	T	156214110	3	4	81	1	0	0	0	0	1	0	0	0	11486	768	27	1	461	1	PAQR6	1	156214110	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	11993	156214110	93036511	1042	4658											
SMG5	23381	broad.mit.edu	37	1	156228930	156228930	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:156228930G>A	ENST00000361813.5	-	16	2452	c.2308C>T	c.(2308-2310)Cgc>Tgc	p.R770C	SMG5_ENST00000368267.5_Intron	NM_015327.2	NP_056142.2	Q9UPR3	SMG5_HUMAN	SMG5 nonsense mediated mRNA decay factor	770					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|nucleus	protein phosphatase 2A binding			NS(1)|breast(3)|endometrium(8)|kidney(2)|large_intestine(7)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	48	Hepatocellular(266;0.158)					CCAAAGCTGCGGATGCAGCAG	0.612													19	22					0	0	1	0	0	A	156228930	G	A	156228930	3	1	81	1	0	0	0	0	1	0	0	0	14850	1116	39	1	770	1	SMG5	1	156228930	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	14820	156228930	93021691	1043	4659											
VHLL	391104	broad.mit.edu	37	1	156268735	156268735	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:156268735C>T	ENST00000339922.3	-	1	693	c.246G>A	c.(244-246)acG>acA	p.T82T		NM_001004319.2	NP_001004319.1	Q6RSH7	VHLL_HUMAN	von Hippel-Lindau tumor suppressor-like	82	Beta-domain.				protein ubiquitination	nucleus				endometrium(1)|lung(2)|ovary(1)	4	Hepatocellular(266;0.158)					CGGGCAGCAGCGTCAGGTAGG	0.557													38	28					0	0	1	0	0	T	156268735	C	T	156268735	2	4	81	1	0	0	0	0	0	0	0	1	17223	755	27	1		1	VHLL	1	156268735	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	39805	156268735	92981886	1044	4660											
CCT3	7203	broad.mit.edu	37	1	156287301	156287301	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:156287301C>T	ENST00000295688.3	-	9	1077	c.797G>A	c.(796-798)cGa>cAa	p.R266Q	CCT3_ENST00000368259.2_Missense_Mutation_p.R228Q|CCT3_ENST00000472765.2_Missense_Mutation_p.R221Q|CCT3_ENST00000368261.3_Missense_Mutation_p.R221Q	NM_005998.4	NP_005989.3	P49368	TCPG_HUMAN	chaperonin containing TCP1, subunit 3 (gamma)	266					'de novo' posttranslational protein folding	cytoskeleton|cytosol|plasma membrane	ATP binding|unfolded protein binding			endometrium(4)|large_intestine(1)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22	Hepatocellular(266;0.158)					CTGGAGAATTCGGGTGAAGTC	0.473													29	184					0	0	1	0	0	T	156287301	C	T	156287301	3	4	81	1	0	0	0	0	1	0	0	0	2976	884	31	1	864	1	CCT3	1	156287301	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	18566	156287301	92963320	1045	4661											
RHBG	57127	broad.mit.edu	37	1	156347153	156347153	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:156347153G>T	ENST00000400992.2	+	3	410	c.42G>T	c.(40-42)caG>caT	p.Q14H	RHBG_ENST00000368246.2_Missense_Mutation_p.Q83H|RHBG_ENST00000255013.3_Missense_Mutation_p.Q14H|RHBG_ENST00000451864.2_Missense_Mutation_p.Q14H|RHBG_ENST00000537040.1_Intron|RHBG_ENST00000368249.1_Missense_Mutation_p.Q83H			Q9H310	RHBG_HUMAN	Rh family, B glycoprotein (gene/pseudogene)	83					transepithelial ammonium transport	anchored to plasma membrane|basolateral plasma membrane|cytoplasmic vesicle membrane|integral to plasma membrane|spectrin-associated cytoskeleton	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	22	Hepatocellular(266;0.158)					TCTTCCTGCAGCGTTACGGCT	0.642													58	122					1.80625e-27	2.39933e-27	1	1	0	T	156347153	G	T	156347153	3	4	81	1	0	0	0	0	1	0	0	0	13374	962	34	4	255	4	RHBG	1	156347153	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	59852	156347153	92903468	1046	4662											
IQGAP3	128239	broad.mit.edu	37	1	156536333	156536333	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:156536333A>G	ENST00000361170.2	-	3	141	c.131T>C	c.(130-132)aTg>aCg	p.M44T		NM_178229.4	NP_839943.2	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	44	CH.				small GTPase mediated signal transduction	intracellular	calmodulin binding|Ras GTPase activator activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GCAGGCCTCCATCCAGCTATG	0.547													3	25					0	0	1	0	0	G	156536333	A	G	156536333	3	3	81	1	0	0	0	0	1	0	0	0	7860	217	8	3	4908	3	IQGAP3	1	156536333	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	189180	156536333	92714288	1047	4663											
APOA1BP	128240	broad.mit.edu	37	1	156562167	156562167	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:156562167C>A	ENST00000368235.3	+	3	345	c.302C>A	c.(301-303)cCc>cAc	p.P101H	APOA1BP_ENST00000368234.3_Missense_Mutation_p.P101H|APOA1BP_ENST00000368233.3_Missense_Mutation_p.P101H|APOA1BP_ENST00000467374.1_3'UTR	NM_144772.2	NP_658985.2	Q8NCW5	AIBP_HUMAN	apolipoprotein A-I binding protein	101	YjeF N-terminal.					extracellular region	protein binding			central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|urinary_tract(1)	9	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GCATATCCCCCCACGTCCATG	0.577													5	61					0.184627	0.18622	1	1	0	A	156562167	C	A	156562167	3	1	81	1	0	0	0	0	1	0	0	0	778	623	22	5	312	5	APOA1BP	1	156562167	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	25834	156562167	92688454	1048	4664											
HAPLN2	60484	broad.mit.edu	37	1	156593868	156593868	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:156593868C>T	ENST00000255039.1	+	4	762	c.355C>T	c.(355-357)Cgc>Tgc	p.R119C	HAPLN2_ENST00000494218.1_3'UTR	NM_021817.2	NP_068589.1	Q9GZV7	HPLN2_HUMAN	hyaluronan and proteoglycan link protein 2	119	Ig-like V-type.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding			NS(1)|endometrium(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	7	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CGCGGGCGTGCGCCTGGAGGA	0.701													13	18					0	0	1	0	0	T	156593868	C	T	156593868	3	4	81	1	0	0	0	0	1	0	0	0	6996	768	27	1	361	1	HAPLN2	1	156593868	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	31701	156593868	92656753	1049	4665											
BCAN	63827	broad.mit.edu	37	1	156617885	156617885	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:156617885A>G	ENST00000329117.5	+	5	1088	c.752A>G	c.(751-753)tAt>tGt	p.Y251C	RP11-284F21.7_ENST00000448869.1_RNA|BCAN_ENST00000361588.5_Missense_Mutation_p.Y251C	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN	brevican		Link 1.				cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding			cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GTGTACTGTTATGCTGAAGAC	0.567													6	115					0	0	1	0	0	G	156617885	A	G	156617885	3	3	81	1	0	0	0	0	1	0	0	0	1343	449	16	3	766	3	BCAN	1	156617885	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	24017	156617885	92632736	1050	4666											
BCAN	63827	broad.mit.edu	37	1	156622669	156622669	+	Missense_Mutation	SNP	G	G	A	rs148943492		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:156622669G>A	ENST00000329117.5	+	8	2263	c.1927G>A	c.(1927-1929)Gtg>Atg	p.V643M	RP11-284F21.7_ENST00000448869.1_RNA|BCAN_ENST00000361588.5_Missense_Mutation_p.V643M	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN	brevican						cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding			cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TGGAGTGGCCGTGGTCCCCGC	0.602													5	74					0	0	1	0	0	A	156622669	G	A	156622669	3	1	81	1	0	0	0	0	1	0	0	0	1343	1145	40	1	1953	1	BCAN	1	156622669	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	4784	156622669	92627952	1051	4667											
NES	10763	broad.mit.edu	37	1	156642898	156642898	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:156642898G>T	ENST00000368223.3	-	4	1214	c.1082C>A	c.(1081-1083)cCt>cAt	p.P361H		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	361	Tail.				brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					AAGGGTAGCAGGCAAGGGTGA	0.612													7	75					2.0095e-06	2.30238e-06	1	1	0	T	156642898	G	T	156642898	3	4	81	1	0	0	0	0	1	0	0	0	10384	1000	35	4	3787	4	NES	1	156642898	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	20229	156642898	92607723	1052	4668											
CRABP2	1382	broad.mit.edu	37	1	156670687	156670687	+	Silent	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:156670687A>C	ENST00000368222.3	-	2	382	c.228T>G	c.(226-228)acT>acG	p.T76T	CRABP2_ENST00000368221.1_Silent_p.T76T	NM_001199723.1|NM_001878.3	NP_001186652.1|NP_001869.1	P29373	RABP2_HUMAN	cellular retinoic acid binding protein 2	76					epidermis development|regulation of transcription, DNA-dependent|signal transduction	cytoplasm|nucleus	retinal binding|retinol binding|transporter activity			endometrium(2)|lung(3)|upper_aerodigestive_tract(1)	6	all_hematologic(923;0.088)|Hepatocellular(266;0.158)				Alitretinoin(DB00523)	TCCCATCCACAGTCTGCTCCT	0.537													18	46					0	0	1	0	0	C	156670687	A	C	156670687	2	2	81	1	0	0	0	0	0	0	0	1	3867	175	7	5		5	CRABP2	1	156670687	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	27789	156670687	92579934	1053	4669											
MRPL24	79590	broad.mit.edu	37	1	156708198	156708198	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:156708198C>T	ENST00000368211.4	-	3	354	c.216G>A	c.(214-216)aaG>aaA	p.K72K	MRPL24_ENST00000361531.2_Silent_p.K72K	NM_024540.3|NM_145729.2	NP_078816.2|NP_663781.1	Q96A35	RM24_HUMAN	mitochondrial ribosomal protein L24	72	KOW.				translation	mitochondrion|ribosome	structural constituent of ribosome			endometrium(1)|large_intestine(1)|lung(4)	6	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CTTTGCCCTGCTTCCCGGCAT	0.577													89	122					0	0	1	0	0	T	156708198	C	T	156708198	2	4	81	1	0	0	0	0	0	0	0	1	9839	796	28	2		2	MRPL24	1	156708198	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	37511	156708198	92542423	1054	4670											
INSRR	3645	broad.mit.edu	37	1	156819161	156819161	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:156819161A>G	ENST00000368195.3	-	6	1717	c.1321T>C	c.(1321-1323)Tac>Cac	p.Y441H	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	441					protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					AAGGCGAAGTAGATCTTGCCC	0.607													10	123					0	0	1	0	0	G	156819161	A	G	156819161	3	3	81	1	0	0	0	0	1	0	0	0	7818	420	15	3	2639	3	INSRR	1	156819161	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	110963	156819161	92431460	1055	4671											
PEAR1	375033	broad.mit.edu	37	1	156880106	156880106	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:156880106A>G	ENST00000338302.3	+	15	1984	c.1759A>G	c.(1759-1761)Acc>Gcc	p.T587A	PEAR1_ENST00000292357.7_Missense_Mutation_p.T587A			Q5VY43	PEAR1_HUMAN	platelet endothelial aggregation receptor 1	587	EGF-like 7.					integral to membrane				breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)	43	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GAATGGGGGCACCTGTCTCCC	0.637											OREG0013890	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	65	148					0	0	1	0	0	G	156880106	A	G	156880106	3	3	81	1	0	0	0	0	1	0	0	0	11759	159	6	3	1809	3	PEAR1	1	156880106	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	60945	156880106	92370515	1056	4672											
ARHGEF11	9826	broad.mit.edu	37	1	156914914	156914914	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:156914914G>A	ENST00000368194.3	-	30	3927	c.2888C>T	c.(2887-2889)gCg>gTg	p.A963V	ARHGEF11_ENST00000315174.8_Missense_Mutation_p.A339V|ARHGEF11_ENST00000487682.1_5'UTR|ARHGEF11_ENST00000361409.2_Missense_Mutation_p.A923V	NM_198236.2	NP_937879.1	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	923					actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction	cytosol|Golgi apparatus|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					TTGTTTTACCGCTTCATTCAC	0.577													53	100					0	0	1	0	0	A	156914914	G	A	156914914	3	1	81	1	0	0	0	0	1	0	0	0	893	1087	38	1	1848	1	ARHGEF11	1	156914914	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	34808	156914914	92335707	1057	4673											
ARHGEF11	9826	broad.mit.edu	37	1	157014177	157014177	+	Translation_Start_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:157014177G>T	ENST00000368194.3	-	0	985				ARHGEF11_ENST00000361409.2_De_novo_Start_OutOfFrame	NM_198236.2	NP_937879.1	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11						actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction	cytosol|Golgi apparatus|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GTCTTGATCAGGATTGAATCG	0.473													16	137					3.52763e-06	4.02143e-06	1	1	0	T	157014177	G	T	157014177	1	4	81	1	0	0	0	0	0	0	0	0	893	1015	35	4		4	ARHGEF11	1	157014177	Translation_Start_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	99263	157014177	92236444	1058	4674											
FCRL5	83416	broad.mit.edu	37	1	157494299	157494299	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:157494299G>T	ENST00000361835.3	-	10	2166	c.2009C>A	c.(2008-2010)gCt>gAt	p.A670D	FCRL5_ENST00000356953.4_Missense_Mutation_p.A670D|FCRL5_ENST00000368190.3_Missense_Mutation_p.A670D|FCRL5_ENST00000368191.3_Missense_Mutation_p.A585D	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	670	Ig-like C2-type 7.					integral to membrane|plasma membrane	receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				CCCCACCACAGCCTGGGCCCT	0.527													5	41					0.0215528	0.0221217	1	1	0	T	157494299	G	T	157494299	3	4	81	1	0	0	0	0	1	0	0	0	5831	971	34	4	956	4	FCRL5	1	157494299	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	480122	157494299	91756322	1059	4675											
CD5L	922	broad.mit.edu	37	1	157805642	157805642	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:157805642G>T	ENST00000368174.4	-	3	455	c.359C>A	c.(358-360)gCt>gAt	p.A120D		NM_005894.2	NP_005885.1	O43866	CD5L_HUMAN	CD5 molecule-like	120	SRCR 1.				apoptosis|cellular defense response	extracellular space|membrane	scavenger receptor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	52	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			CGATGCCCCAGCATCTTCATC	0.498													71	96					7.25294e-45	9.75094e-45	1	1	0	T	157805642	G	T	157805642	3	4	81	1	0	0	0	0	1	0	0	0	3049	971	34	4	700	4	CD5L	1	157805642	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	311343	157805642	91444979	1060	4676											
KIRREL	55243	broad.mit.edu	37	1	158064462	158064462	+	Missense_Mutation	SNP	G	G	A	rs147886424		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:158064462G>A	ENST00000368172.1	+	11	1280	c.1268G>A	c.(1267-1269)cGt>cAt	p.R423H	KIRREL_ENST00000359209.6_Missense_Mutation_p.R609H|KIRREL_ENST00000368173.3_Missense_Mutation_p.R625H|KIRREL_ENST00000392272.2_Missense_Mutation_p.R506H|KIRREL_ENST00000360089.4_Missense_Mutation_p.R445H|KIRREL_ENST00000416935.2_Missense_Mutation_p.R509H			Q96J84	KIRR1_HUMAN	kin of IRRE like (Drosophila)	609	Ig-like C2-type 5.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1)	38	all_hematologic(112;0.0378)					TACAACGTGCGTGCCCATGAA	0.622													18	30					0	0	1	0	0	A	158064462	G	A	158064462	3	1	81	1	0	0	0	0	1	0	0	0	8367	1145	40	1	1884	1	KIRREL	1	158064462	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	258820	158064462	91186159	1061	4677											
CD1A	909	broad.mit.edu	37	1	158224912	158224912	+	Missense_Mutation	SNP	G	G	A	rs140904380	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:158224912G>A	ENST00000289429.5	+	2	630	c.97G>A	c.(97-99)Gca>Aca	p.A33T		NM_001763.2	NP_001754.2	P06126	CD1A_HUMAN	CD1a molecule	33					antigen processing and presentation|immune response	endosome membrane|integral to plasma membrane|MHC class I protein complex		p.A33T(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	32	all_hematologic(112;0.0378)				Antithymocyte globulin(DB00098)	CACCTGGATCGCATCCTTTTA	0.468													38	71					0	0	1	0	0	A	158224912	G	A	158224912	3	1	81	1	0	0	0	0	1	0	0	0	2996	1087	38	1	103	1	CD1A	1	158224912	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	160450	158224912	91025709	1062	4678											
CD1A	909	broad.mit.edu	37	1	158225851	158225851	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:158225851G>T	ENST00000289429.5	+	3	916	c.383G>T	c.(382-384)gGa>gTa	p.G128V		NM_001763.2	NP_001754.2	P06126	CD1A_HUMAN	CD1a molecule	128					antigen processing and presentation|immune response	endosome membrane|integral to plasma membrane|MHC class I protein complex				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	32	all_hematologic(112;0.0378)				Antithymocyte globulin(DB00098)	AAGGTCTCAGGAAGCTTCTTG	0.438													9	98					0.000673444	0.000721718	1	1	0	T	158225851	G	T	158225851	3	4	81	1	0	0	0	0	1	0	0	0	2996	1174	41	5	393	5	CD1A	1	158225851	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	939	158225851	91024770	1063	4679											
CD1A	909	broad.mit.edu	37	1	158227281	158227281	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:158227281G>A	ENST00000289429.5	+	5	1487	c.954G>A	c.(952-954)gcG>gcA	p.A318A		NM_001763.2	NP_001754.2	P06126	CD1A_HUMAN	CD1a molecule	318					antigen processing and presentation|immune response	endosome membrane|integral to plasma membrane|MHC class I protein complex		p.A318A(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	32	all_hematologic(112;0.0378)				Antithymocyte globulin(DB00098)	TAGGTCTTGCGCTTTGGTTCA	0.458													96	169					0	0	1	0	0	A	158227281	G	A	158227281	2	1	81	1	0	0	0	0	0	0	0	1	2996	1074	38	1		1	CD1A	1	158227281	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1430	158227281	91023340	1064	4680											
CD1B	910	broad.mit.edu	37	1	158298712	158298712	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:158298712G>A	ENST00000368168.3	-	5	1086	c.979C>T	c.(979-981)Cgg>Tgg	p.R327W		NM_001764.2	NP_001755.1	P29016	CD1B_HUMAN	CD1b molecule	327					antigen processing and presentation|immune response	endosome membrane|integral to membrane|lysosomal membrane|plasma membrane	protein binding			breast(2)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	30	all_hematologic(112;0.0378)					ACAACTCACCGGCGCCTCATA	0.383													10	31					0	0	1	0	0	A	158298712	G	A	158298712	5	1	81	1	0	0	0	0	0	0	1	0	2997	1130	39	1	30	1	CD1B	1	158298712	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	71431	158298712	90951909	1065	4681											
CD1B	910	broad.mit.edu	37	1	158299264	158299264	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:158299264C>A	ENST00000368168.3	-	4	889	c.782G>T	c.(781-783)tGg>tTg	p.W261L		NM_001764.2	NP_001755.1	P29016	CD1B_HUMAN	CD1b molecule	261	Ig-like.				antigen processing and presentation|immune response	endosome membrane|integral to membrane|lysosomal membrane|plasma membrane	protein binding			breast(2)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	30	all_hematologic(112;0.0378)					TCGGAGATACCATGTCCAGTT	0.597													6	94					0.000157383	0.000171784	1	1	0	A	158299264	C	A	158299264	3	1	81	1	0	0	0	0	1	0	0	0	2997	595	21	5	231	5	CD1B	1	158299264	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	552	158299264	90951357	1066	4682											
CD1E	913	broad.mit.edu	37	1	158326667	158326667	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:158326667G>A	ENST00000444681.2	+	5	1144	c.851G>A	c.(850-852)cGc>cAc	p.R284H	CD1E_ENST00000452291.2_Missense_Mutation_p.R194H|CD1E_ENST00000368154.1_Missense_Mutation_p.R139H|CD1E_ENST00000368167.3_Missense_Mutation_p.R383H|CD1E_ENST00000368166.3_Missense_Mutation_p.R182H|CD1E_ENST00000368155.3_Missense_Mutation_p.R226H|CD1E_ENST00000368160.3_Missense_Mutation_p.R371H|CD1E_ENST00000368157.1_Missense_Mutation_p.R127H|CD1E_ENST00000368164.3_3'UTR|CD1E_ENST00000368156.1_Missense_Mutation_p.R281H|CD1E_ENST00000368161.3_3'UTR|CD1E_ENST00000368163.3_Missense_Mutation_p.R316H|CD1E_ENST00000368165.3_Missense_Mutation_p.R293H	NM_001185114.1	NP_001172043.1	P15812	CD1E_HUMAN	CD1e molecule	383	Ig-like.				antigen processing and presentation|immune response	early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen				breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					TGGAAGACACGCCTAAACCAA	0.423													24	63					0	0	1	0	0	A	158326667	G	A	158326667	3	1	81	1	0	0	0	0	1	0	0	0	3000	1087	38	1	1170	1	CD1E	1	158326667	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	27403	158326667	90923954	1067	4683											
SPTA1	6708	broad.mit.edu	37	1	158612230	158612230	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:158612230C>T	ENST00000368147.4	-	33	4888	c.4708G>A	c.(4708-4710)Gct>Act	p.A1570T		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)					Missing (in Ref. 1; AAA60577/AAA60994 and 7; AAA60569).	actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CCATCACAAGCGCTACACTCA	0.453													36	70					0	0	1	0	0	T	158612230	C	T	158612230	3	4	81	1	0	0	0	0	1	0	0	0	15172	768	27	1	2631	1	SPTA1	1	158612230	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	285563	158612230	90638391	1068	4684											
SPTA1	6708	broad.mit.edu	37	1	158612619	158612619	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:158612619G>A	ENST00000368147.4	-	32	4770	c.4590C>T	c.(4588-4590)gaC>gaT	p.D1530D		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)						actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TGTTAGTGGCGTCTTTGTAGG	0.433													61	68					0	0	1	0	0	A	158612619	G	A	158612619	2	1	81	1	0	0	0	0	0	0	0	1	15172	1136	40	1		1	SPTA1	1	158612619	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	389	158612619	90638002	1069	4685											
SPTA1	6708	broad.mit.edu	37	1	158614141	158614141	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:158614141G>A	ENST00000368147.4	-	30	4420	c.4240C>T	c.(4240-4242)Cgt>Tgt	p.R1414C		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)						actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GAATTCTCACGTGCCACCATC	0.473													23	45					0	0	1	0	0	A	158614141	G	A	158614141	3	1	81	1	0	0	0	0	1	0	0	0	15172	1145	40	1	3111	1	SPTA1	1	158614141	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1522	158614141	90636480	1070	4686											
SPTA1	6708	broad.mit.edu	37	1	158637679	158637679	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:158637679C>T	ENST00000368147.4	-	15	2187	c.2007G>A	c.(2005-2007)tgG>tgA	p.W669*		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)						actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GCAACTCCTCCCAGAGGCTGG	0.433													12	51					0	0	1	0	0	T	158637679	C	T	158637679	4	4	81	1	0	0	0	0	0	1	0	0	15172	624	22	2	5404	2	SPTA1	1	158637679	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	23538	158637679	90612942	1071	4687											
SPTA1	6708	broad.mit.edu	37	1	158641244	158641244	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:158641244C>A	ENST00000368147.4	-	12	1669		c.e12-1			NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)						actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CCAGGAAGGCCTGTAGAAGAC	0.498													12	30					5.50884e-06	6.24461e-06	1	1	0	A	158641244	C	A	158641244	5	1	81	1	0	0	0	0	0	0	1	0	15172	695	24	4	5935	4	SPTA1	1	158641244	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3565	158641244	90609377	1072	4688											
OR6K3	391114	broad.mit.edu	37	1	158687330	158687330	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:158687330C>T	ENST00000368146.1	-	1	623	c.624G>A	c.(622-624)acG>acA	p.T208T	OR6K3_ENST00000368145.1_Silent_p.T192T			Q8NGY3	OR6K3_HUMAN	olfactory receptor, family 6, subfamily K, member 3	208					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)	41	all_hematologic(112;0.0378)					GAATCATGGACGTGTCTGTAC	0.448													32	53					0	0	1	0	0	T	158687330	C	T	158687330	2	4	81	1	0	0	0	0	0	0	0	1	11250	523	19	1		1	OR6K3	1	158687330	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	46086	158687330	90563291	1073	4689											
OR6N1	128372	broad.mit.edu	37	1	158735969	158735969	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:158735969G>T	ENST00000335094.2	-	1	523	c.504C>A	c.(502-504)ttC>ttA	p.F168L		NM_001005185.1	NP_001005185.1	Q8NGY5	OR6N1_HUMAN	olfactory receptor, family 6, subfamily N, member 1	168					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_hematologic(112;0.0378)					TGGGGCCACAGAATGGGAGGC	0.478													28	46					3.1745e-13	4.00013e-13	1	1	0	T	158735969	G	T	158735969	3	4	81	1	0	0	0	0	1	0	0	0	11253	933	33	4	437	4	OR6N1	1	158735969	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	48639	158735969	90514652	1074	4690											
OR6N2	81442	broad.mit.edu	37	1	158747053	158747053	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:158747053C>T	ENST00000339258.1	-	1	372	c.373G>A	c.(373-375)Gcc>Acc	p.A125T		NM_001005278.1	NP_001005278.1	Q8NGY6	OR6N2_HUMAN	olfactory receptor, family 6, subfamily N, member 2	125					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(6)|lung(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_hematologic(112;0.0378)					CGACAAATGGCCAGGTATCTA	0.502													46	25					0	0	1	0	0	T	158747053	C	T	158747053	3	4	81	1	0	0	0	0	1	0	0	0	11254	739	26	2	583	2	OR6N2	1	158747053	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	11084	158747053	90503568	1075	4691											
OR6N2	81442	broad.mit.edu	37	1	158747166	158747166	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:158747166C>A	ENST00000339258.1	-	1	259	c.260G>T	c.(259-261)aGt>aTt	p.S87I		NM_001005278.1	NP_001005278.1	Q8NGY6	OR6N2_HUMAN	olfactory receptor, family 6, subfamily N, member 2	87					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(6)|lung(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_hematologic(112;0.0378)					TTTCTTCTCACTGAGAATATT	0.448													7	164					0.000157383	0.000171784	1	1	0	A	158747166	C	A	158747166	3	1	81	1	0	0	0	0	1	0	0	0	11254	565	20	4	696	4	OR6N2	1	158747166	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	113	158747166	90503455	1076	4692											
PYHIN1	149628	broad.mit.edu	37	1	158943460	158943460	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:158943460A>G	ENST00000368140.1	+	8	1628	c.1383A>G	c.(1381-1383)gcA>gcG	p.A461A	PYHIN1_ENST00000392254.2_Intron|PYHIN1_ENST00000392252.3_Intron|PYHIN1_ENST00000368138.3_Silent_p.A452A	NM_152501.4|NM_198928.4|NM_198929.4	NP_689714.2|NP_945146.1|NP_945147.1	Q6K0P9	IFIX_HUMAN	pyrin and HIN domain family, member 1	461					cell cycle	nuclear speck				breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(112;0.0378)					ACCCAGGAGCACAGTCATCGC	0.428													7	74					0	0	1	0	0	G	158943460	A	G	158943460	2	3	81	1	0	0	0	0	0	0	0	1	12917	146	6	3		3	PYHIN1	1	158943460	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	196294	158943460	90307161	1077	4693											
IFI16	3428	broad.mit.edu	37	1	158984476	158984476	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:158984476delA	ENST00000295809.7	+	2	261	c.6delA	c.(4-6)ggafs	p.G2fs	IFI16_ENST00000368132.3_Frame_Shift_Del_p.G2fs|IFI16_ENST00000448393.2_Frame_Shift_Del_p.G2fs|IFI16_ENST00000430894.2_Frame_Shift_Del_p.G6fs|IFI16_ENST00000340979.6_Frame_Shift_Del_p.G2fs|IFI16_ENST00000368131.4_Frame_Shift_Del_p.G2fs|IFI16_ENST00000359709.3_Frame_Shift_Del_p.G2fs			Q16666	IF16_HUMAN	interferon, gamma-inducible protein 16	2	DAPIN.|Lys-rich.				cell proliferation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|monocyte differentiation|negative regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	cytoplasm|nuclear speck|nucleolus	double-stranded DNA binding|protein binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0429)					TAAAGATGGGAAAAAAATACA	0.313													11	64	---	---	---	---						-	158984476	A	-	158984476	7	5	81	1	0	1	0	1	0	0	0	0	7555	233	9	0	8	0	IFI16	1	158984476	Frame_Shift_Del	DEL	A	TCGA-DU-6392-01A-11D-1705-08	41016	158984476	90266145	1078	4694											
OR10J3	441911	broad.mit.edu	37	1	159284307	159284307	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:159284307G>A	ENST00000332217.5	-	1	142	c.143C>T	c.(142-144)aCc>aTc	p.T48I		NM_001004467.1	NP_001004467.1	Q5JRS4	O10J3_HUMAN	olfactory receptor, family 10, subfamily J, member 3	48					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	47	all_hematologic(112;0.0429)					GCGAATAATGGTCATGATAAT	0.478													9	170					0	0	1	0	0	A	159284307	G	A	159284307	3	1	81	1	0	0	0	0	1	0	0	0	10959	1261	44	2	848	2	OR10J3	1	159284307	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	299831	159284307	89966314	1079	4695											
OR10J3	441911	broad.mit.edu	37	1	159284386	159284386	+	Missense_Mutation	SNP	G	G	A	rs150299321		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:159284386G>A	ENST00000332217.5	-	1	63	c.64C>T	c.(64-66)Cgg>Tgg	p.R22W		NM_001004467.1	NP_001004467.1	Q5JRS4	O10J3_HUMAN	olfactory receptor, family 10, subfamily J, member 3	22					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	47	all_hematologic(112;0.0429)					TTGTGCTGCCGCCTGAAGCTG	0.453													85	128					0	0	1	0	0	A	159284386	G	A	159284386	3	1	81	1	0	0	0	0	1	0	0	0	10959	1086	38	1	927	1	OR10J3	1	159284386	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	79	159284386	89966235	1080	4696											
CRP	1401	broad.mit.edu	37	1	159683348	159683348	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:159683348G>A	ENST00000255030.5	-	2	745	c.642C>T	c.(640-642)ggC>ggT	p.G214G	CRP_ENST00000343919.2_Silent_p.G92G|CRP_ENST00000368111.1_Silent_p.G92G|CRP_ENST00000368110.1_Silent_p.G92G|CRP_ENST00000368112.1_Silent_p.G81G|CRP_ENST00000437342.1_Silent_p.G36G|CRP_ENST00000473196.1_5'UTR	NM_000567.2	NP_000558.2	P02741	CRP_HUMAN	C-reactive protein, pentraxin-related	214	Pentaxin.				acute-phase response|negative regulation of lipid storage|negative regulation of macrophage derived foam cell differentiation|opsonization		choline binding|Gram-positive bacterial cell surface binding|low-density lipoprotein particle binding|metal ion binding|protein binding			breast(1)|endometrium(3)|kidney(1)|lung(15)|ovary(1)|skin(1)	22	all_hematologic(112;0.0429)				Atorvastatin(DB01076)|Bezafibrate(DB01393)	TGAACACTTCGCCTTGCACTT	0.552													9	63					0	0	1	0	0	A	159683348	G	A	159683348	2	1	81	1	0	0	0	0	0	0	0	1	3918	1074	38	1		1	CRP	1	159683348	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	398962	159683348	89567273	1081	4697											
IGSF9	57549	broad.mit.edu	37	1	159897171	159897171	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:159897171C>T	ENST00000368094.1	-	21	3701	c.3504G>A	c.(3502-3504)caG>caA	p.Q1168Q	IGSF9_ENST00000361509.3_Silent_p.Q1152Q|IGSF9_ENST00000493195.1_5'UTR	NM_001135050.1	NP_001128522.1	Q9P2J2	TUTLA_HUMAN	immunoglobulin superfamily, member 9	1168						cell junction|integral to membrane|synapse				central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			GGGGGACTGGCTGTCGATAGG	0.622													44	34					0	0	1	0	0	T	159897171	C	T	159897171	2	4	81	1	0	0	0	0	0	0	0	1	7649	796	28	2		2	IGSF9	1	159897171	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	213823	159897171	89353450	1082	4698											
IGSF9	57549	broad.mit.edu	37	1	159900180	159900180	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:159900180C>T	ENST00000368094.1	-	15	2060	c.1863G>A	c.(1861-1863)ccG>ccA	p.P621P	IGSF9_ENST00000361509.3_Silent_p.P605P|IGSF9_ENST00000493195.1_5'UTR	NM_001135050.1	NP_001128522.1	Q9P2J2	TUTLA_HUMAN	immunoglobulin superfamily, member 9	621						cell junction|integral to membrane|synapse				central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			ACAGGGGAGGCGGTATCTCTG	0.662													23	73					0	0	1	0	0	T	159900180	C	T	159900180	2	4	81	1	0	0	0	0	0	0	0	1	7649	755	27	1		1	IGSF9	1	159900180	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3009	159900180	89350441	1083	4699											
SLAMF9	89886	broad.mit.edu	37	1	159921585	159921585	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:159921585G>A	ENST00000368093.3	-	4	852	c.736C>T	c.(736-738)Ctc>Ttc	p.L246F	SLAMF9_ENST00000466773.1_5'UTR|SLAMF9_ENST00000368092.3_Missense_Mutation_p.L155F	NM_033438.3	NP_254273.2	Q96A28	SLAF9_HUMAN	SLAM family member 9	246						integral to membrane				breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	13	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			ATTACCAAGAGCAAGAAGATG	0.483													30	41					0	0	1	0	0	A	159921585	G	A	159921585	3	1	81	1	0	0	0	0	1	0	0	0	14426	972	34	2	137	2	SLAMF9	1	159921585	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	21405	159921585	89329036	1084	4700											
KCNJ10	3766	broad.mit.edu	37	1	160012180	160012180	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:160012180C>T	ENST00000368089.3	-	2	369	c.143G>A	c.(142-144)cGc>cAc	p.R48H		NM_002241.4	NP_002232.2	P78508	IRK10_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 10	48						integral to plasma membrane	ATP binding|ATP-activated inward rectifier potassium channel activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)	17	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GTAGAGGAAGCGCTTGTCGGC	0.557													40	81					0	0	1	0	0	T	160012180	C	T	160012180	3	4	81	1	0	0	0	0	1	0	0	0	8088	768	27	1	1000	1	KCNJ10	1	160012180	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	90595	160012180	89238441	1085	4701											
IGSF8	93185	broad.mit.edu	37	1	160064677	160064677	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:160064677C>T	ENST00000368086.1	-	2	640	c.424G>A	c.(424-426)Ggc>Agc	p.G142S	IGSF8_ENST00000314485.7_Missense_Mutation_p.G142S|IGSF8_ENST00000460351.1_5'UTR			Q969P0	IGSF8_HUMAN	immunoglobulin superfamily, member 8	142	Ig-like C2-type 1.				cell proliferation|cellular component movement|nervous system development|single fertilization|skeletal muscle tissue development	integral to membrane	protein binding	p.G142S(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(19)|pancreas(1)|prostate(1)|skin(1)	33	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			TCCACCTTGCCGCTGTAGCTG	0.617													13	18					0	0	1	0	0	T	160064677	C	T	160064677	3	4	81	1	0	0	0	0	1	0	0	0	7648	652	23	1	1437	1	IGSF8	1	160064677	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	52497	160064677	89185944	1086	4702											
ATP1A2	477	broad.mit.edu	37	1	160097377	160097377	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:160097377C>T	ENST00000361216.3	+	8	873	c.784C>T	c.(784-786)Cgg>Tgg	p.R262W	ATP1A2_ENST00000392233.3_Missense_Mutation_p.R262W	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	262					ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			CACAGGAGACCGGACGGTGAT	0.592													24	22					0	0	1	0	0	T	160097377	C	T	160097377	3	4	81	1	0	0	0	0	1	0	0	0	1128	643	23	1	814	1	ATP1A2	1	160097377	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	32700	160097377	89153244	1087	4703											
CASQ1	844	broad.mit.edu	37	1	160162604	160162604	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:160162604G>A	ENST00000368079.3	+	2	549	c.274G>A	c.(274-276)Gtc>Atc	p.V92I	CASQ1_ENST00000368078.3_Missense_Mutation_p.V98I	NM_001231.4	NP_001222.3	P31415	CASQ1_HUMAN	calsequestrin 1 (fast-twitch, skeletal muscle)	98						mitochondrial matrix|sarcoplasmic reticulum lumen|smooth endoplasmic reticulum	calcium ion binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(1)	21	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			AGCAGCCCAAGTCCTAGAAGA	0.498											OREG0013927	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	54	151					0	0	1	0	0	A	160162604	G	A	160162604	3	1	81	1	0	0	0	0	1	0	0	0	2698	1029	36	2	298	2	CASQ1	1	160162604	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	65227	160162604	89088017	1088	4704											
CASQ1	844	broad.mit.edu	37	1	160165307	160165307	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:160165307G>A	ENST00000368079.3	+	5	891	c.616G>A	c.(616-618)Gcc>Acc	p.A206T	CASQ1_ENST00000368078.3_Missense_Mutation_p.A212T	NM_001231.4	NP_001222.3	P31415	CASQ1_HUMAN	calsequestrin 1 (fast-twitch, skeletal muscle)	212						mitochondrial matrix|sarcoplasmic reticulum lumen|smooth endoplasmic reticulum	calcium ion binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(1)	21	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CCCCTTCTTCGCCACCTTCGA	0.552													26	32					0	0	1	0	0	A	160165307	G	A	160165307	3	1	81	1	0	0	0	0	1	0	0	0	2698	1087	38	1	652	1	CASQ1	1	160165307	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2703	160165307	89085314	1089	4705											
DCAF8	50717	broad.mit.edu	37	1	160188212	160188212	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:160188212G>A	ENST00000368073.3	-	13	2013	c.1579C>T	c.(1579-1581)Cgg>Tgg	p.R527W	DCAF8_ENST00000368074.1_Missense_Mutation_p.R527W|DCAF8_ENST00000326837.2_Missense_Mutation_p.R527W|DCAF8_ENST00000608310.1_Missense_Mutation_p.R681W|DCAF8_ENST00000556710.1_Missense_Mutation_p.R681W			Q5TAQ9	DCAF8_HUMAN	DDB1 and CUL4 associated factor 8	527						CUL4 RING ubiquitin ligase complex	protein binding			cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(16)|skin(3)|upper_aerodigestive_tract(1)	33						TCCCGCTCCCGCTTGTTCTTC	0.517													5	124					0	0	1	0	0	A	160188212	G	A	160188212	3	1	81	1	0	0	0	0	1	0	0	0	4300	1086	38	1	222	1	DCAF8	1	160188212	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	22905	160188212	89062409	1090	4706											
COPA	1314	broad.mit.edu	37	1	160261620	160261620	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:160261620G>A	ENST00000241704.7	-	30	3476	c.3247C>T	c.(3247-3249)Cgc>Tgc	p.R1083C	COPA_ENST00000368069.3_Missense_Mutation_p.R1092C	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	coatomer protein complex, subunit alpha	1083					COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction	hormone activity|structural molecule activity			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TCACAGATGCGCTTCTGCTGT	0.483											OREG0013929	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	97	216					0	0	1	0	0	A	160261620	G	A	160261620	3	1	81	1	0	0	0	0	1	0	0	0	3750	1087	38	1	443	1	COPA	1	160261620	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	73408	160261620	88989001	1091	4707											
COPA	1314	broad.mit.edu	37	1	160275249	160275249	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:160275249G>A	ENST00000241704.7	-	17	1870	c.1641C>T	c.(1639-1641)aaC>aaT	p.N547N	COPA_ENST00000368069.3_Silent_p.N556N	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	coatomer protein complex, subunit alpha	547					COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction	hormone activity|structural molecule activity			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			ATTTGATGTGGTTGCTTGTGG	0.428													9	105					0	0	1	0	0	A	160275249	G	A	160275249	2	1	81	1	0	0	0	0	0	0	0	1	3750	1252	44	2		2	COPA	1	160275249	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	13629	160275249	88975372	1092	4708											
COPA	1314	broad.mit.edu	37	1	160283846	160283846	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:160283846G>T	ENST00000241704.7	-	9	1005	c.776C>A	c.(775-777)cCt>cAt	p.P259H	COPA_ENST00000368069.3_Missense_Mutation_p.P259H	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	coatomer protein complex, subunit alpha	259					COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction	hormone activity|structural molecule activity			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CTCTTGGCGAGGGTGGAAGAC	0.463													7	43					0.00307968	0.00324365	1	1	0	T	160283846	G	T	160283846	3	4	81	1	0	0	0	0	1	0	0	0	3750	1000	35	4	3025	4	COPA	1	160283846	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	8597	160283846	88966775	1093	4709											
NCSTN	23385	broad.mit.edu	37	1	160318821	160318821	+	Missense_Mutation	SNP	G	G	A	rs12045198	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:160318821G>A	ENST00000368063.1	+	4	443	c.163G>A	c.(163-165)Gta>Ata	p.V55I	NCSTN_ENST00000535857.1_Missense_Mutation_p.V75I|NCSTN_ENST00000392212.4_Missense_Mutation_p.V55I|NCSTN_ENST00000294785.5_Missense_Mutation_p.V75I			Q92542	NICA_HUMAN	nicastrin	75					amyloid precursor protein catabolic process|apoptosis|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity|protein processing	endoplasmic reticulum|Golgi apparatus|integral to plasma membrane|melanosome	protein binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(2)	34	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GGTTATCCACGTAGTAGAGAA	0.463													14	44					0	0	1	0	0	A	160318821	G	A	160318821	3	1	81	1	0	0	0	0	1	0	0	0	10288	1145	40	1	233	1	NCSTN	1	160318821	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	34975	160318821	88931800	1094	4710											
NCSTN	23385	broad.mit.edu	37	1	160321854	160321854	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:160321854G>A	ENST00000368063.1	+	9	1074	c.794G>A	c.(793-795)cGt>cAt	p.R265H	NCSTN_ENST00000535857.1_Intron|NCSTN_ENST00000368065.4_Missense_Mutation_p.R27H|NCSTN_ENST00000392212.4_Missense_Mutation_p.R265H|NCSTN_ENST00000459963.1_3'UTR|NCSTN_ENST00000294785.5_Missense_Mutation_p.R285H			Q92542	NICA_HUMAN	nicastrin	285					amyloid precursor protein catabolic process|apoptosis|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity|protein processing	endoplasmic reticulum|Golgi apparatus|integral to plasma membrane|melanosome	protein binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(2)	34	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CTGGATAGTCGTTCCTTTTTC	0.488													35	68					0	0	1	0	0	A	160321854	G	A	160321854	3	1	81	1	0	0	0	0	1	0	0	0	10288	1145	40	1	884	1	NCSTN	1	160321854	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	3033	160321854	88928767	1095	4711											
NCSTN	23385	broad.mit.edu	37	1	160326407	160326407	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:160326407C>T	ENST00000368063.1	+	16	1877	c.1597C>T	c.(1597-1599)Cat>Tat	p.H533Y	NCSTN_ENST00000535857.1_Missense_Mutation_p.H415Y|NCSTN_ENST00000368065.4_Missense_Mutation_p.H295Y|NCSTN_ENST00000392212.4_Missense_Mutation_p.H533Y|NCSTN_ENST00000294785.5_Missense_Mutation_p.H553Y			Q92542	NICA_HUMAN	nicastrin	553					amyloid precursor protein catabolic process|apoptosis|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity|protein processing	endoplasmic reticulum|Golgi apparatus|integral to plasma membrane|melanosome	protein binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(2)	34	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GCCTCTTCAACATTACATCGC	0.527													7	105					0	0	1	0	0	T	160326407	C	T	160326407	3	4	81	1	0	0	0	0	1	0	0	0	10288	478	17	2	1715	2	NCSTN	1	160326407	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	4553	160326407	88924214	1096	4712											
NHLH1	4807	broad.mit.edu	37	1	160340879	160340879	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:160340879G>A	ENST00000302101.5	+	2	804	c.358G>A	c.(358-360)Gcc>Acc	p.A120T		NM_005598.3	NP_005589.1	Q02575	HEN1_HUMAN	nescient helix loop helix 1	120	Helix-loop-helix motif.				cell differentiation|central nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(2)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)	7	all_cancers(52;7.11e-19)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TCTGCGCCTGGCCATCTGCTA	0.622													18	52					0	0	1	0	0	A	160340879	G	A	160340879	3	1	81	1	0	0	0	0	1	0	0	0	10450	1203	42	2	360	2	NHLH1	1	160340879	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	14472	160340879	88909742	1097	4713											
SLAMF6	114836	broad.mit.edu	37	1	160460977	160460977	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:160460977C>T	ENST00000368059.3	-	3	653	c.584G>A	c.(583-585)tGc>tAc	p.C195Y	SLAMF6_ENST00000368057.3_Missense_Mutation_p.C195Y|SLAMF6_ENST00000368055.1_Missense_Mutation_p.C84Y	NM_001184714.1|NM_001184715.1|NM_001184716.1|NM_052931.4	NP_001171643.1|NP_001171644.1|NP_001171645.1|NP_443163.1	Q96DU3	SLAF6_HUMAN	SLAM family member 6	195	Ig-like.					integral to membrane|plasma membrane	receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(4)	22	all_cancers(52;1.05e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0923)			CTCTGCTATGCAGGTGTAGTC	0.512													33	52					0	0	1	0	0	T	160460977	C	T	160460977	3	4	81	1	0	0	0	0	1	0	0	0	14423	710	25	2	438	2	SLAMF6	1	160460977	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	120098	160460977	88789644	1098	4714											
SLAMF6	114836	broad.mit.edu	37	1	160461053	160461053	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:160461053C>A	ENST00000368059.3	-	3	577	c.508G>T	c.(508-510)Gga>Tga	p.G170*	SLAMF6_ENST00000368057.3_Nonsense_Mutation_p.G170*|SLAMF6_ENST00000368055.1_Nonsense_Mutation_p.G59*	NM_001184714.1|NM_001184715.1|NM_001184716.1|NM_052931.4	NP_001171643.1|NP_001171644.1|NP_001171645.1|NP_443163.1	Q96DU3	SLAF6_HUMAN	SLAM family member 6	170	Ig-like.					integral to membrane|plasma membrane	receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(4)	22	all_cancers(52;1.05e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0923)			AGTGTGTTTCCCAAGGCCTCC	0.483													11	87					9.31168e-06	1.05369e-05	1	1	0	A	160461053	C	A	160461053	4	1	81	1	0	0	0	0	0	1	0	0	14423	632	22	5	514	5	SLAMF6	1	160461053	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	76	160461053	88789568	1099	4715											
SLAMF1	6504	broad.mit.edu	37	1	160604616	160604616	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:160604616C>A	ENST00000302035.6	-	3	836	c.487G>T	c.(487-489)Ggc>Tgc	p.G163C	SLAMF1_ENST00000235739.5_Missense_Mutation_p.G163C|SLAMF1_ENST00000355199.3_Missense_Mutation_p.G163C|SLAMF1_ENST00000538290.1_Missense_Mutation_p.G163C	NM_003037.2	NP_003028.1	Q13291	SLAF1_HUMAN	signaling lymphocytic activation molecule family member 1	163	Ig-like C2-type.				interspecies interaction between organisms|lymphocyte activation|positive regulation of cell proliferation	integral to membrane	antigen binding|transmembrane receptor activity			breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(52;4.94e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			ACTGTGCAGCCCAGTATCAAG	0.567													30	75					4.34311e-12	5.41059e-12	1	1	0	A	160604616	C	A	160604616	3	1	81	1	0	0	0	0	1	0	0	0	14422	623	22	5	540	5	SLAMF1	1	160604616	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	143563	160604616	88646005	1100	4716											
LY9	4063	broad.mit.edu	37	1	160771667	160771667	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:160771667G>A	ENST00000368039.2	+	3	543	c.542G>A	c.(541-543)aGc>aAc	p.S181N	LY9_ENST00000263285.6_Intron|LY9_ENST00000368037.5_Intron|LY9_ENST00000341032.4_Intron|LY9_ENST00000471816.1_Intron|LY9_ENST00000368041.2_Intron|LY9_ENST00000368040.1_Intron|LY9_ENST00000392203.4_Intron	NM_001033667.2	NP_001028839.1	Q9HBG7	LY9_HUMAN	lymphocyte antigen 9	0	Ig-like C2-type 1.				cell adhesion|immunoglobulin mediated immune response	integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			TCCATCATCAGCACCCTGGCT	0.642													53	97					0	0	1	0	0	A	160771667	G	A	160771667	3	1	81	1	0	0	0	0	1	0	0	0	9147	971	34	2	552	2	LY9	1	160771667	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	167051	160771667	88478954	1101	4717											
LY9	4063	broad.mit.edu	37	1	160786519	160786519	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:160786519C>T	ENST00000368037.5	+	5	1322	c.1208C>T	c.(1207-1209)gCt>gTt	p.A403V	LY9_ENST00000263285.6_Missense_Mutation_p.A403V|LY9_ENST00000341032.4_Intron|LY9_ENST00000368041.2_Intron|LY9_ENST00000368040.1_Missense_Mutation_p.A55V|LY9_ENST00000392203.4_Intron	NM_001261456.1|NM_002348.3	NP_001248385.1|NP_002339.2	Q9HBG7	LY9_HUMAN	lymphocyte antigen 9		Ig-like C2-type 2.				cell adhesion|immunoglobulin mediated immune response	integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			CAGAAGGAAGCTGTTGTGTCC	0.557													25	27					0	0	1	0	0	T	160786519	C	T	160786519	3	4	81	1	0	0	0	0	1	0	0	0	9147	797	28	2	1358	2	LY9	1	160786519	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	14852	160786519	88464102	1102	4718											
ITLN1	55600	broad.mit.edu	37	1	160854649	160854649	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:160854649G>T	ENST00000326245.3	-	2	134	c.19C>A	c.(19-21)Ctg>Atg	p.L7M		NM_017625.2	NP_060095.2	Q8WWA0	ITLN1_HUMAN	intelectin 1 (galactofuranose binding)	7					positive regulation of glucose import|positive regulation of protein phosphorylation|response to nematode|signal transduction	anchored to membrane|brush border membrane|extracellular region|membrane raft	receptor binding|sugar binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	21	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			AGAAACAGCAGGAAGCTGAGT	0.507													13	216					9.05144e-12	1.12483e-11	1	1	0	T	160854649	G	T	160854649	3	4	81	1	0	0	0	0	1	0	0	0	7954	991	35	4	950	4	ITLN1	1	160854649	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	68130	160854649	88395972	1103	4719											
F11R	50848	broad.mit.edu	37	1	160969502	160969502	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:160969502G>T	ENST00000368026.6	-	7	1004	c.730C>A	c.(730-732)Ctt>Att	p.L244I	F11R_ENST00000537746.1_Missense_Mutation_p.L195I|F11R_ENST00000289779.3_3'UTR	NM_016946.4	NP_058642.1	Q9Y624	JAM1_HUMAN	F11 receptor	244					blood coagulation|inflammatory response|interspecies interaction between organisms|leukocyte migration|tight junction assembly	integral to membrane|tight junction				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)	12	all_cancers(52;6.73e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00207)			AGGGTTACAAGGACGGCTGCC	0.532													9	21					0.000442599	0.000477972	1	1	0	T	160969502	G	T	160969502	3	4	81	1	0	0	0	0	1	0	0	0	5366	1000	35	4	185	4	F11R	1	160969502	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	114853	160969502	88281119	1104	4720											
USF1	7391	broad.mit.edu	37	1	161011486	161011486	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:161011486G>A	ENST00000368021.3	-	6	631	c.427C>T	c.(427-429)Cag>Tag	p.Q143*	USF1_ENST00000368019.1_Intron|USF1_ENST00000435396.1_Nonsense_Mutation_p.Q84*|USF1_ENST00000368020.1_Nonsense_Mutation_p.Q143*	NM_007122.3	NP_009053.1	P22415	USF1_HUMAN	upstream transcription factor 1	143					cellular response to insulin stimulus|glucose homeostasis|late viral mRNA transcription|lipid homeostasis|positive regulation of transcription from RNA polymerase II promoter by glucose|response to hypoxia|response to UV	transcription factor complex	bHLH transcription factor binding|histone deacetylase binding|protein heterodimerization activity|protein homodimerization activity|protein kinase binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			central_nervous_system(1)|large_intestine(3)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9	all_cancers(52;6.73e-18)|Breast(13;0.012)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			TCTGAGCCCTGGGTAGTAACA	0.587											OREG0013936	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	16	49					0	0	1	0	0	A	161011486	G	A	161011486	4	1	81	1	0	0	0	0	0	1	0	0	17092	1357	47	2	529	2	USF1	1	161011486	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	41984	161011486	88239135	1105	4721											
ARHGAP30	257106	broad.mit.edu	37	1	161018566	161018567	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:161018566_161018567insT	ENST00000368013.3	-	12	2564_2565	c.2244_2245insA	c.(2242-2247)aaagaafs	p.E749fs	ARHGAP30_ENST00000368016.3_Intron|ARHGAP30_ENST00000368015.1_Frame_Shift_Ins_p.E572fs	NM_001025598.1|NM_181720.2	NP_001020769.1|NP_859071.2	Q7Z6I6	RHG30_HUMAN	Rho GTPase activating protein 30	749	Glu-rich.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			CTCTCAATTTCTTTTTCCTTCT	0.485													81	195	---	---	---	---						T	161018567	-	T	161018566	7	5	81	1	0	1	1	0	0	0	0	0	876	922	32	0	1064	0	ARHGAP30	1	161018566	Frame_Shift_Ins	INS	-	TCGA-DU-6392-01A-11D-1705-08	7080	161018566	88232055	1106	4722											
PVRL4	81607	broad.mit.edu	37	1	161044518	161044518	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:161044518C>A	ENST00000368012.3	-	5	1185	c.883G>T	c.(883-885)Gtg>Ttg	p.V295L	PVRL4_ENST00000453926.2_Missense_Mutation_p.V29L	NM_030916.2	NP_112178.2	Q96NY8	PVRL4_HUMAN	poliovirus receptor-related 4	295	Ig-like C2-type 2.				adherens junction organization|cell adhesion|cell junction assembly	adherens junction|extracellular region|integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|urinary_tract(1)	20	all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			TCCCCATCCACTCGTACCCCA	0.602													17	11					0.146539	0.148881	1	1	0	A	161044518	C	A	161044518	3	1	81	1	0	0	0	0	1	0	0	0	12894	565	20	4	669	4	PVRL4	1	161044518	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	25952	161044518	88206103	1107	4723											
USP21	27005	broad.mit.edu	37	1	161130759	161130759	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:161130759G>A	ENST00000368002.3	+	3	706	c.329G>A	c.(328-330)cGt>cAt	p.R110H	USP21_ENST00000368001.1_Missense_Mutation_p.R110H|USP21_ENST00000289865.8_Missense_Mutation_p.R110H	NM_001014443.2	NP_001014443.1	Q9UK80	UBP21_HUMAN	ubiquitin specific peptidase 21	110					histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	nucleus	metal ion binding|NEDD8-specific protease activity|protein binding|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|prostate(3)	29	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			AACTTAGCCCGTTCCAAGTCT	0.642													22	27					0	0	1	0	0	A	161130759	G	A	161130759	3	1	81	1	0	0	0	0	1	0	0	0	17113	1145	40	1	331	1	USP21	1	161130759	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	86241	161130759	88119862	1108	4724											
USP21	27005	broad.mit.edu	37	1	161134625	161134625	+	Splice_Site	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:161134625A>T	ENST00000368002.3	+	12	1762	c.1385A>T	c.(1384-1386)cAt>cTt	p.H462L	USP21_ENST00000493054.1_3'UTR|USP21_ENST00000368001.1_Splice_Site_p.H462L|USP21_ENST00000289865.8_Splice_Site_p.H462L	NM_001014443.2	NP_001014443.1	Q9UK80	UBP21_HUMAN	ubiquitin specific peptidase 21	462					histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	nucleus	metal ion binding|NEDD8-specific protease activity|protein binding|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|prostate(3)	29	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			CAGGGCTTAGATCTGAATCGA	0.532													21	54					0	0	1	0	0	T	161134625	A	T	161134625	5	4	81	1	0	0	0	0	0	0	1	0	17113	347	12	4	1423	4	USP21	1	161134625	Splice_Site	SNP	A	TCGA-DU-6392-01A-11D-1705-08	3866	161134625	88115996	1109	4725											
NDUFS2	4720	broad.mit.edu	37	1	161179310	161179310	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:161179310C>T	ENST00000392179.4	+	5	791	c.552C>T	c.(550-552)atC>atT	p.I184I	NDUFS2_ENST00000367993.3_Silent_p.I184I|NDUFS2_ENST00000476409.2_Silent_p.I86I	NM_001166159.1	NP_001159631.1	O75306	NDUS2_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 2, 49kDa (NADH-coenzyme Q reductase)	184					mitochondrial electron transport, NADH to ubiquinone|response to oxidative stress|transport	mitochondrial respiratory chain complex I	4 iron, 4 sulfur cluster binding|electron carrier activity|metal ion binding|NAD binding|NADH dehydrogenase (ubiquinone) activity|protein binding|quinone binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)	18	all_cancers(52;1.16e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		NADH(DB00157)	TGAACCACATCATGGCTGTGA	0.512											OREG0013941	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	29					0	0	1	0	0	T	161179310	C	T	161179310	2	4	81	1	0	0	0	0	0	0	0	1	10339	816	29	2		2	NDUFS2	1	161179310	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	44685	161179310	88071311	1110	4726											
MPZ	4359	broad.mit.edu	37	1	161275672	161275672	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:161275672C>A	ENST00000533357.1	-	6	807	c.741G>T	c.(739-741)aaG>aaT	p.K247N	MPZ_ENST00000491222.2_Missense_Mutation_p.K51N|MPZ_ENST00000360451.6_Missense_Mutation_p.K257N|MPZ_ENST00000336559.4_Missense_Mutation_p.R247I|MPZ_ENST00000526189.1_5'UTR	NM_000530.6	NP_000521.2	P25189	MYP0_HUMAN	myelin protein zero	247					synaptic transmission	integral to plasma membrane	structural molecule activity			central_nervous_system(1)|large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	10	all_cancers(52;6.96e-17)|all_hematologic(112;0.093)	Breast(1374;0.181)	BRCA - Breast invasive adenocarcinoma(70;0.00376)			ACCGCTATTTCTTATCCTTGC	0.592													5	39					0.0293803	0.0300537	1	1	0	A	161275672	C	A	161275672	3	1	81	1	0	0	0	0	1	0	0	0	9797	912	32	4	9	4	MPZ	1	161275672	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	96362	161275672	87974949	1111	4727											
SDHC	6391	broad.mit.edu	37	1	161326568	161326568	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:161326568A>G	ENST00000367975.2	+	5	492	c.343A>G	c.(343-345)Aca>Gca	p.T115A	SDHC_ENST00000513009.1_Intron|SDHC_ENST00000342751.4_Intron|SDHC_ENST00000432287.2_Missense_Mutation_p.T81A|SDHC_ENST00000392169.2_Missense_Mutation_p.T62A|SDHC_ENST00000470743.3_3'UTR	NM_003001.3	NP_002992.1	Q99643	C560_HUMAN	succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa	115					respiratory electron transport chain|transport|tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain complex II|plasma membrane succinate dehydrogenase complex	electron carrier activity|heme binding|succinate dehydrogenase activity			urinary_tract(1)	1	all_cancers(52;6.96e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Succinic acid(DB00139)	ACTGATCCACACAGCTAAGTT	0.473			"Mis, N, F"			"paraganglioma, pheochromocytoma"			Familial Paragangliomas;Carney-Stratakis syndrome				62	133					0	0	1	0	0	G	161326568	A	G	161326568	3	3	81	1	0	0	0	0	1	0	0	0	14020	159	6	3	361	3	SDHC	1	161326568	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	50896	161326568	87924053	1112	4728											
FCGR2A	2212	broad.mit.edu	37	1	161483700	161483700	+	Missense_Mutation	SNP	C	C	T	rs149146966		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:161483700C>T	ENST00000271450.6	+	6	796	c.758C>T	c.(757-759)cCt>cTt	p.P253L	FCGR2A_ENST00000367972.4_Missense_Mutation_p.P252L|RP11-25K21.6_ENST00000537821.2_RNA	NM_001136219.1|NM_021642.3	NP_001129691.1|NP_067674.2	P12318	FCG2A_HUMAN	Fc fragment of IgG, low affinity IIa, receptor (CD32)	253						integral to membrane|plasma membrane	IgG binding|receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1)	19	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	TCCACTGATCCTGTGAAGGCT	0.488													48	176					0	0	1	0	0	T	161483700	C	T	161483700	3	4	81	1	0	0	0	0	1	0	0	0	5814	681	24	2	780	2	FCGR2A	1	161483700	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	157132	161483700	87766921	1113	4729											
HSPA6	3310	broad.mit.edu	37	1	161495419	161495419	+	Missense_Mutation	SNP	G	G	A	rs144281379		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:161495419G>A	ENST00000309758.4	+	1	1384	c.971G>A	c.(970-972)cGg>cAg	p.R324Q	RP11-25K21.6_ENST00000537821.2_RNA	NM_002155.3	NP_002146.2	P17066	HSP76_HUMAN	heat shock 70kDa protein 6 (HSP70B')	324					response to unfolded protein		ATP binding			endometrium(3)|large_intestine(5)|lung(9)|prostate(2)|skin(2)	21	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			AAGGCCCTGCGGGATGCCAAG	0.612													9	15					0	0	1	0	0	A	161495419	G	A	161495419	3	1	81	1	0	0	0	0	1	0	0	0	7458	1116	39	1	973	1	HSPA6	1	161495419	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	11719	161495419	87755202	1114	4730											
FCGR3A	2214	broad.mit.edu	37	1	161518450	161518450	+	Missense_Mutation	SNP	A	A	G	rs11804152		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:161518450A>G	ENST00000367969.3	-	3	371	c.188T>C	c.(187-189)gTg>gCg	p.V63A	FCGR3A_ENST00000436743.1_Missense_Mutation_p.V27A|FCGR3A_ENST00000443193.1_Missense_Mutation_p.V62A|FCGR3A_ENST00000476031.1_5'UTR|RP11-25K21.6_ENST00000537821.2_RNA|FCGR3A_ENST00000540048.1_Missense_Mutation_p.V27A	NM_000569.6	NP_000560.5	P08637	FCG3A_HUMAN	Fc fragment of IgG, low affinity IIIa, receptor (CD16a)	27	Ig-like C2-type 1.				immune response|regulation of immune response	extracellular region|integral to membrane|plasma membrane	IgG binding|receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	CAGGAACACCACAGCCTTTGG	0.567													5	73					0	0	1	0	0	G	161518450	A	G	161518450	3	3	81	1	0	0	0	0	1	0	0	0	5817	159	6	3	696	3	FCGR3A	1	161518450	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	23031	161518450	87732171	1115	4731											
FCGR3B	2215	broad.mit.edu	37	1	161599807	161599807	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:161599807A>G	ENST00000294800.3	-	3	353	c.80T>C	c.(79-81)gTg>gCg	p.V27A	FCGR2B_ENST00000367962.4_Intron|FCGR3B_ENST00000531221.1_Missense_Mutation_p.V63A|FCGR3B_ENST00000367964.2_Missense_Mutation_p.V27A|FCGR2B_ENST00000367960.5_Intron|FCGR3A_ENST00000540048.1_Intron|FCGR2B_ENST00000428605.2_Intron|FCGR2B_ENST00000403078.3_Intron	NM_001244753.1|NM_001271035.1	NP_001231682.1|NP_001257964.1	O75015	FCG3B_HUMAN	Fc fragment of IgG, low affinity IIIb, receptor (CD16b)	27					immune response	anchored to membrane|extracellular region|plasma membrane	IgG binding|receptor activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1)	18	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	CAGGAACACCACAGCCTTTGG	0.562													18	25					0	0	1	0	0	G	161599807	A	G	161599807	3	3	81	1	0	0	0	0	1	0	0	0	5818	159	6	3	633	3	FCGR3B	1	161599807	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	81357	161599807	87650814	1116	4732											
FCRLA	84824	broad.mit.edu	37	1	161681736	161681736	+	Missense_Mutation	SNP	C	C	T	rs140395904		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:161681736C>T	ENST00000540926.1	+	5	823	c.530C>T	c.(529-531)gCg>gTg	p.A177V	FCRLA_ENST00000294796.4_Missense_Mutation_p.A37V|FCRLA_ENST00000470841.1_3'UTR|FCRLA_ENST00000367950.1_Intron|FCRLA_ENST00000546024.1_Missense_Mutation_p.A99V|FCRLA_ENST00000367953.3_Missense_Mutation_p.A177V|FCRLA_ENST00000349527.4_Intron|FCRLA_ENST00000350710.3_Intron|FCRLA_ENST00000540521.1_Missense_Mutation_p.A54V|FCRLA_ENST00000367949.2_Intron|FCRLA_ENST00000236938.6_Missense_Mutation_p.A188V|FCRLA_ENST00000367959.2_Missense_Mutation_p.A194V|FCRLA_ENST00000367957.2_Missense_Mutation_p.A48V|FCRLA_ENST00000309691.6_Missense_Mutation_p.A82V			Q7L513	FCRLA_HUMAN	Fc receptor-like A	171	Ig-like C2-type 2.				cell differentiation	cytoplasm|extracellular region				breast(1)|kidney(12)|large_intestine(4)|lung(13)|prostate(1)|skin(2)|stomach(1)	34	all_cancers(52;2.55e-15)|all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00301)			CTGTTTCCAGCGCCAATTCTC	0.522													111	225					0	0	1	0	0	T	161681736	C	T	161681736	3	4	81	1	0	0	0	0	1	0	0	0	5833	768	27	1	599	1	FCRLA	1	161681736	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	81929	161681736	87568885	1117	4733											
DUSP12	11266	broad.mit.edu	37	1	161723043	161723043	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:161723043G>T	ENST00000367943.4	+	5	885	c.853G>T	c.(853-855)Gat>Tat	p.D285Y		NM_007240.1	NP_009171.1	Q9UNI6	DUS12_HUMAN	dual specificity phosphatase 12	285					positive regulation of glucokinase activity	cytoplasm|nucleus	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|lung(1)	5	all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00634)			GGGAGTGATGGATGGACAGGT	0.358													11	119					9.70103e-10	1.17698e-09	1	1	0	T	161723043	G	T	161723043	3	4	81	1	0	0	0	0	1	0	0	0	4838	1174	41	5	871	5	DUSP12	1	161723043	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	41307	161723043	87527578	1118	4734											
ATF6	22926	broad.mit.edu	37	1	161753881	161753881	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:161753881G>A	ENST00000367942.3	+	4	416	c.349G>A	c.(349-351)Gtt>Att	p.V117I		NM_007348.3	NP_031374.2	P18850	ATF6A_HUMAN	activating transcription factor 6	117	Transcription activation.				positive regulation of transcription from RNA polymerase II promoter involved in unfolded protein response|protein folding	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleoplasm	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(14)|ovary(3)|skin(1)|stomach(1)	34	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.00953)			AACTCAGCATGTTCCTGTGAG	0.388													62	47					0	0	1	0	0	A	161753881	G	A	161753881	3	1	81	1	0	0	0	0	1	0	0	0	1083	1377	48	2	363	2	ATF6	1	161753881	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	30838	161753881	87496740	1119	4735											
ATF6	22926	broad.mit.edu	37	1	161789436	161789436	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:161789436G>T	ENST00000367942.3	+	8	990	c.923G>T	c.(922-924)aGg>aTg	p.R308M		NM_007348.3	NP_031374.2	P18850	ATF6A_HUMAN	activating transcription factor 6	308					positive regulation of transcription from RNA polymerase II promoter involved in unfolded protein response|protein folding	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleoplasm	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(14)|ovary(3)|skin(1)|stomach(1)	34	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.00953)			GCTGTGCTAAGGAGACAGCAA	0.343													15	63					1.02788e-11	1.2764e-11	1	1	0	T	161789436	G	T	161789436	3	4	81	1	0	0	0	0	1	0	0	0	1083	1000	35	4	953	4	ATF6	1	161789436	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	35555	161789436	87461185	1120	4736											
ATF6	22926	broad.mit.edu	37	1	161790922	161790922	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:161790922A>G	ENST00000367942.3	+	9	1225	c.1158A>G	c.(1156-1158)gcA>gcG	p.A386A		NM_007348.3	NP_031374.2	P18850	ATF6A_HUMAN	activating transcription factor 6	386					positive regulation of transcription from RNA polymerase II promoter involved in unfolded protein response|protein folding	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleoplasm	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(14)|ovary(3)|skin(1)|stomach(1)	34	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.00953)			TAGTATTGGCATTTATAATAC	0.318													8	110					0	0	1	0	0	G	161790922	A	G	161790922	2	3	81	1	0	0	0	0	0	0	0	1	1083	204	8	3		3	ATF6	1	161790922	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	1486	161790922	87459699	1121	4737											
OLFML2B	25903	broad.mit.edu	37	1	161967893	161967893	+	Missense_Mutation	SNP	G	G	A	rs140535952	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:161967893G>A	ENST00000294794.3	-	6	1619	c.1196C>T	c.(1195-1197)tCg>tTg	p.S399L	OLFML2B_ENST00000367940.2_Missense_Mutation_p.S400L	NM_015441.1	NP_056256.1	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B	399										breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			TGGAGACACCGAGGTTGTTTG	0.627													7	108					0	0	1	0	0	A	161967893	G	A	161967893	3	1	81	1	0	0	0	0	1	0	0	0	10906	1059	37	1	1068	1	OLFML2B	1	161967893	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	176971	161967893	87282728	1122	4738											
NOS1AP	9722	broad.mit.edu	37	1	162270451	162270451	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:162270451C>T	ENST00000361897.5	+	4	701	c.299C>T	c.(298-300)aCg>aTg	p.T100M	NOS1AP_ENST00000530878.1_Missense_Mutation_p.T95M	NM_001164757.1|NM_014697.2	NP_001158229.1|NP_055512.1	O75052	CAPON_HUMAN	nitric oxide synthase 1 (neuronal) adaptor protein	100	PID.				regulation of apoptosis|regulation of nitric oxide biosynthetic process|regulation of nitric-oxide synthase activity		nitric-oxide synthase binding|PDZ domain binding			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	32	all_hematologic(112;0.203)		BRCA - Breast invasive adenocarcinoma(70;0.0537)			AAGGAATGGACGTGGGATGAG	0.498													37	55					0	0	1	0	0	T	162270451	C	T	162270451	3	4	81	1	0	0	0	0	1	0	0	0	10589	536	19	1	313	1	NOS1AP	1	162270451	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	302558	162270451	86980170	1123	4739											
NOS1AP	9722	broad.mit.edu	37	1	162326911	162326911	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:162326911A>G	ENST00000361897.5	+	8	1326	c.924A>G	c.(922-924)caA>caG	p.Q308Q	NOS1AP_ENST00000530878.1_Silent_p.Q303Q	NM_001164757.1|NM_014697.2	NP_001158229.1|NP_055512.1	O75052	CAPON_HUMAN	nitric oxide synthase 1 (neuronal) adaptor protein	308	Poly-Gln.				regulation of apoptosis|regulation of nitric oxide biosynthetic process|regulation of nitric-oxide synthase activity		nitric-oxide synthase binding|PDZ domain binding			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	32	all_hematologic(112;0.203)		BRCA - Breast invasive adenocarcinoma(70;0.0537)			AGCAGACACAAGTGGCTGTGG	0.632													4	38					0	0	1	0	0	G	162326911	A	G	162326911	2	3	81	1	0	0	0	0	0	0	0	1	10589	69	3	3		3	NOS1AP	1	162326911	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	56460	162326911	86923710	1124	4740											
NOS1AP	9722	broad.mit.edu	37	1	162337149	162337149	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:162337149C>T	ENST00000493151.1	+	2	2895	c.528C>T	c.(526-528)gaC>gaT	p.D176D	NOS1AP_ENST00000454693.1_3'UTR|NOS1AP_ENST00000361897.5_Silent_p.D471D|RP11-565P22.6_ENST00000431696.1_Intron|NOS1AP_ENST00000530878.1_Silent_p.D466D	NM_001126060.1	NP_001119532.2	O75052	CAPON_HUMAN	nitric oxide synthase 1 (neuronal) adaptor protein	471	PID.				regulation of apoptosis|regulation of nitric oxide biosynthetic process|regulation of nitric-oxide synthase activity		nitric-oxide synthase binding|PDZ domain binding			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	32	all_hematologic(112;0.203)		BRCA - Breast invasive adenocarcinoma(70;0.0537)			CCAACACGGACGAGAGCGAGG	0.667													4	7					0	0	1	0	0	T	162337149	C	T	162337149	2	4	81	1	0	0	0	0	0	0	0	1	10589	535	19	1		1	NOS1AP	1	162337149	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	10238	162337149	86913472	1125	4741											
UHMK1	127933	broad.mit.edu	37	1	162470727	162470727	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:162470727G>A	ENST00000489294.1	+	3	744	c.586G>A	c.(586-588)Ggg>Agg	p.G196R	UHMK1_ENST00000545294.1_Missense_Mutation_p.G122R|UHMK1_ENST00000282169.8_3'UTR|UHMK1_ENST00000538489.1_Missense_Mutation_p.G196R	NM_175866.4	NP_787062.1	Q8TAS1	UHMK1_HUMAN	U2AF homology motif (UHM) kinase 1	196	Protein kinase.				cell cycle arrest|neuron projection development|peptidyl-serine phosphorylation|positive regulation of translational initiation|protein autophosphorylation|regulation of protein export from nucleus	axon|dendrite cytoplasm|neuronal RNA granule|nucleus	protein binding|protein serine/threonine kinase activity|ribonucleoprotein binding|RNA binding			endometrium(1)|large_intestine(2)|lung(6)|prostate(2)	11	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.126)			TCAGACAGACGGGTATCGGGC	0.423													15	29					0	0	1	0	0	A	162470727	G	A	162470727	3	1	81	1	0	0	0	0	1	0	0	0	17026	1116	39	1	646	1	UHMK1	1	162470727	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	133578	162470727	86779894	1126	4742											
UAP1	6675	broad.mit.edu	37	1	162567644	162567644	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:162567644G>T	ENST00000271469.3	+	10	1774	c.1472G>T	c.(1471-1473)gGa>gTa	p.G491V	UAP1_ENST00000367924.1_Missense_Mutation_p.G490V|UAP1_ENST00000367925.1_Missense_Mutation_p.G491V|UAP1_ENST00000367926.4_Missense_Mutation_p.G474V			Q16222	UAP1_HUMAN	UDP-N-acteylglucosamine pyrophosphorylase 1	491					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol|nucleus|plasma membrane	UDP-N-acetylglucosamine diphosphorylase activity			breast(2)|cervix(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(2)|skin(2)|stomach(1)	22	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.126)			TCCTATGCTGGAGAAGTAAGT	0.313													7	159					5.18039e-06	5.88187e-06	1	1	0	T	162567644	G	T	162567644	3	4	81	1	0	0	0	0	1	0	0	0	16886	1174	41	5	1451	5	UAP1	1	162567644	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	96917	162567644	86682977	1127	4743											
NUF2	83540	broad.mit.edu	37	1	163310177	163310177	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:163310177C>A	ENST00000271452.3	+	9	909	c.630C>A	c.(628-630)tcC>tcA	p.S210S	NUF2_ENST00000367900.3_Silent_p.S210S|NUF2_ENST00000524800.1_Silent_p.S210S	NM_145697.2	NP_663735.2	Q9BZD4	NUF2_HUMAN	NUF2, NDC80 kinetochore complex component	210	Interaction with the N-terminus of NDC80.				cell division|chromosome segregation|mitotic prometaphase	condensed chromosome kinetochore|cytosol|Ndc80 complex|nucleus	protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	all_hematologic(923;0.101)					AGGGAAATTCCCAAAAGAAGT	0.323													8	99					0.0477658	0.0487066	1	1	0	A	163310177	C	A	163310177	2	1	81	1	0	0	0	0	0	0	0	1	10795	610	22	5		5	NUF2	1	163310177	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	742533	163310177	85940444	1128	4744											
NUF2	83540	broad.mit.edu	37	1	163315595	163315595	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:163315595G>T	ENST00000271452.3	+	11	1214	c.935G>T	c.(934-936)aGt>aTt	p.S312I	NUF2_ENST00000367900.3_Missense_Mutation_p.S312I|NUF2_ENST00000524800.1_Intron	NM_145697.2	NP_663735.2	Q9BZD4	NUF2_HUMAN	NUF2, NDC80 kinetochore complex component	312	Interaction with the N-terminus of NDC80.				cell division|chromosome segregation|mitotic prometaphase	condensed chromosome kinetochore|cytosol|Ndc80 complex|nucleus	protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	all_hematologic(923;0.101)					AAATTAGCCAGTATCTTAAAG	0.328													6	66					2.0095e-06	2.30238e-06	1	1	0	T	163315595	G	T	163315595	3	4	81	1	0	0	0	0	1	0	0	0	10795	1029	36	4	973	4	NUF2	1	163315595	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	5418	163315595	85935026	1129	4745											
NUF2	83540	broad.mit.edu	37	1	163317594	163317594	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:163317594A>C	ENST00000271452.3	+	12	1269	c.990A>C	c.(988-990)gaA>gaC	p.E330D	NUF2_ENST00000367900.3_Missense_Mutation_p.E330D|NUF2_ENST00000524800.1_Missense_Mutation_p.E283D	NM_145697.2	NP_663735.2	Q9BZD4	NUF2_HUMAN	NUF2, NDC80 kinetochore complex component	330	Interaction with the N-terminus of NDC80.				cell division|chromosome segregation|mitotic prometaphase	condensed chromosome kinetochore|cytosol|Ndc80 complex|nucleus	protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	all_hematologic(923;0.101)					ATGAGTCAGAACTGAAGAAAT	0.318													21	42					0	0	1	0	0	C	163317594	A	C	163317594	3	2	81	1	0	0	0	0	1	0	0	0	10795	40	2	5	1032	5	NUF2	1	163317594	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	1999	163317594	85933027	1130	4746											
ALDH9A1	223	broad.mit.edu	37	1	165638676	165638676	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:165638676A>G	ENST00000354775.4	-	7	1246	c.942T>C	c.(940-942)aaT>aaC	p.N314N	ALDH9A1_ENST00000538148.1_Silent_p.N220N	NM_000696.3	NP_000687.3	P49189	AL9A1_HUMAN	aldehyde dehydrogenase 9 family, member A1	290					carnitine biosynthetic process|cellular aldehyde metabolic process|hormone metabolic process|neurotransmitter biosynthetic process	cytosol|plasma membrane	3-chloroallyl aldehyde dehydrogenase activity|4-trimethylammoniobutyraldehyde dehydrogenase activity|aldehyde dehydrogenase (NAD) activity|aminobutyraldehyde dehydrogenase activity			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	21	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)				NADH(DB00157)	CTCTTGTGCCATTACAGCAAA	0.348													13	40					0	0	1	0	0	G	165638676	A	G	165638676	2	3	81	1	0	0	0	0	0	0	0	1	503	214	8	3		3	ALDH9A1	1	165638676	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	2321082	165638676	83611945	1131	4747											
MAEL	84944	broad.mit.edu	37	1	166958631	166958631	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:166958631C>T	ENST00000367872.4	+	1	286	c.42C>T	c.(40-42)ttC>ttT	p.F14F	MAEL_ENST00000367870.2_Silent_p.F14F	NM_032858.1	NP_116247.1	Q96JY0	MAEL_HUMAN	maelstrom spermatogenic transposon silencer	14					cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|multicellular organismal development|piRNA metabolic process|spermatogenesis	piP-body	DNA binding			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(12)|skin(4)	28						ACTATTTCTTCGTGCAGGAGA	0.617													3	4					0	0	1	0	0	T	166958631	C	T	166958631	2	4	81	1	0	0	0	0	0	0	0	1	9200	883	31	1		1	MAEL	1	166958631	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1319955	166958631	82291990	1132	4748											
POU2F1	5451	broad.mit.edu	37	1	167365661	167365661	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:167365661G>A	ENST00000367862.5	+	10	1328	c.1093G>A	c.(1093-1095)Gca>Aca	p.A365T	POU2F1_ENST00000420254.3_Missense_Mutation_p.A353T|POU2F1_ENST00000367865.1_3'UTR|POU2F1_ENST00000429375.2_Missense_Mutation_p.A313T|POU2F1_ENST00000367866.2_Missense_Mutation_p.A376T|POU2F1_ENST00000541643.3_Missense_Mutation_p.A353T	NM_001198783.1	NP_001185712.1	P14859	PO2F1_HUMAN	POU class 2 homeobox 1	353					negative regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	30						GCTAAATGATGCAGGTAAGTG	0.353													5	86					0	0	1	0	0	A	167365661	G	A	167365661	3	1	81	1	0	0	0	0	1	0	0	0	12317	1319	46	2	1091	2	POU2F1	1	167365661	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	407030	167365661	81884960	1133	4749											
RCSD1	92241	broad.mit.edu	37	1	167666427	167666427	+	Missense_Mutation	SNP	C	C	T	rs148941543		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:167666427C>T	ENST00000367854.3	+	6	897	c.566C>T	c.(565-567)gCg>gTg	p.A189V	RCSD1_ENST00000537350.1_Missense_Mutation_p.A159V	NM_052862.3	NP_443094.3	Q6JBY9	CPZIP_HUMAN	RCSD domain containing 1	189										NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	24	all_hematologic(923;0.215)					GATTTCAGGGCGGTGGAGTCA	0.557													41	37					0	0	1	0	0	T	167666427	C	T	167666427	3	4	81	1	0	0	0	0	1	0	0	0	13237	768	27	1	588	1	RCSD1	1	167666427	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	300766	167666427	81584194	1134	4750											
MPZL1	9019	broad.mit.edu	37	1	167757089	167757089	+	Silent	SNP	C	C	T	rs139028868	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:167757089C>T	ENST00000359523.2	+	6	943	c.741C>T	c.(739-741)tcC>tcT	p.S247S	MPZL1_ENST00000392121.3_Silent_p.S97S|MPZL1_ENST00000403379.3_3'UTR	NM_003953.5|NM_024569.4	NP_003944.1|NP_078845.3	O95297	MPZL1_HUMAN	myelin protein zero-like 1	247					cell-cell signaling|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	protein binding|structural molecule activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(2)	15	all_hematologic(923;0.215)					TAGACCACTCCGGCGGACATC	0.463													18	20					0	0	1	0	0	T	167757089	C	T	167757089	2	4	81	1	0	0	0	0	0	0	0	1	9798	639	23	1		1	MPZL1	1	167757089	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	90662	167757089	81493532	1135	4751	17	2									
MPZL1	9019	broad.mit.edu	37	1	167757092	167757092	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:167757092C>T	ENST00000359523.2	+	6	946	c.744C>T	c.(742-744)ggC>ggT	p.G248G	MPZL1_ENST00000392121.3_Silent_p.G98G|MPZL1_ENST00000403379.3_3'UTR	NM_003953.5|NM_024569.4	NP_003944.1|NP_078845.3	O95297	MPZL1_HUMAN	myelin protein zero-like 1	248					cell-cell signaling|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	protein binding|structural molecule activity	p.G248G(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(2)	15	all_hematologic(923;0.215)					ACCACTCCGGCGGACATCACA	0.463													14	23					0	0	1	0	0	T	167757092	C	T	167757092	2	4	81	1	0	0	0	0	0	0	0	1	9798	755	27	1		1	MPZL1	1	167757092	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3	167757092	81493529	1136	4752	17	2									
ADCY10	55811	broad.mit.edu	37	1	167778997	167778997	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:167778997A>C	ENST00000367848.1	-	33	4972	c.4475T>G	c.(4474-4476)aTt>aGt	p.I1492S	ADCY10_ENST00000367851.4_Missense_Mutation_p.I1584S|ADCY10_ENST00000545172.1_Missense_Mutation_p.I1431S			Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	1584					intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						GCCTGCTACAATTTTTTCCCA	0.388													41	53					0	0	1	0	0	C	167778997	A	C	167778997	3	2	81	1	0	0	0	0	1	0	0	0	292	101	4	4	85	4	ADCY10	1	167778997	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	21905	167778997	81471624	1137	4753											
ADCY10	55811	broad.mit.edu	37	1	167825527	167825527	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:167825527C>T	ENST00000367848.1	-	17	2268	c.1771G>A	c.(1771-1773)Gcc>Acc	p.A591T	ADCY10_ENST00000367851.4_Missense_Mutation_p.A683T|ADCY10_ENST00000545172.1_Missense_Mutation_p.A530T			Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	683					intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						ACGGCCCTGGCAGCTGCACAG	0.473													79	100					0	0	1	0	0	T	167825527	C	T	167825527	3	4	81	1	0	0	0	0	1	0	0	0	292	710	25	2	2853	2	ADCY10	1	167825527	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	46530	167825527	81425094	1138	4754											
ADCY10	55811	broad.mit.edu	37	1	167830117	167830117	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:167830117G>T	ENST00000367848.1	-	15	2022	c.1525C>A	c.(1525-1527)Cat>Aat	p.H509N	ADCY10_ENST00000367851.4_Missense_Mutation_p.H601N|ADCY10_ENST00000545172.1_Missense_Mutation_p.H448N			Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	601					intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						ACCTGAACATGGAAAATGTCA	0.398													20	72					1.96292e-10	2.40212e-10	1	1	0	T	167830117	G	T	167830117	3	4	81	1	0	0	0	0	1	0	0	0	292	1348	47	5	3107	5	ADCY10	1	167830117	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	4590	167830117	81420504	1139	4755											
ADCY10	55811	broad.mit.edu	37	1	167847744	167847744	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:167847744A>C	ENST00000367848.1	-	12	1567	c.1070T>G	c.(1069-1071)gTt>gGt	p.V357G	ADCY10_ENST00000367851.4_Missense_Mutation_p.V449G|ADCY10_ENST00000545172.1_Missense_Mutation_p.V296G			Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	449	Guanylate cyclase 2.				intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						ACCTTTCATAACTTTCTTTGG	0.408													42	56					0	0	1	0	0	C	167847744	A	C	167847744	3	2	81	1	0	0	0	0	1	0	0	0	292	43	2	5	3574	5	ADCY10	1	167847744	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	17627	167847744	81402877	1140	4756											
ADCY10	55811	broad.mit.edu	37	1	167865875	167865875	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:167865875A>G	ENST00000367848.1	-	7	918	c.421T>C	c.(421-423)Tgt>Cgt	p.C141R	ADCY10_ENST00000367851.4_Missense_Mutation_p.C233R|ADCY10_ENST00000545172.1_Missense_Mutation_p.C80R			Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	233	Guanylate cyclase 1.				intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						AAGGTCGTACACTTTGTGAAA	0.363													25	311					0	0	1	0	0	G	167865875	A	G	167865875	3	3	81	1	0	0	0	0	1	0	0	0	292	159	6	3	4243	3	ADCY10	1	167865875	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	18131	167865875	81384746	1141	4757											
DCAF6	55827	broad.mit.edu	37	1	167962634	167962634	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:167962634G>A	ENST00000367840.3	+	7	953	c.859G>A	c.(859-861)Gca>Aca	p.A287T	DCAF6_ENST00000367843.3_Missense_Mutation_p.A287T|DCAF6_ENST00000312263.6_Missense_Mutation_p.A287T|DCAF6_ENST00000432587.2_Missense_Mutation_p.A256T	NM_001198956.1	NP_001185885.1	Q58WW2	DCAF6_HUMAN	DDB1 and CUL4 associated factor 6	287					positive regulation of transcription from RNA polymerase II promoter	CUL4 RING ubiquitin ligase complex|nucleus	ligand-dependent nuclear receptor transcription coactivator activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	36						AGATGATACAGCACGAGAACT	0.448													5	74					0	0	1	0	0	A	167962634	G	A	167962634	3	1	81	1	0	0	0	0	1	0	0	0	4298	971	34	2	885	2	DCAF6	1	167962634	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	96759	167962634	81287987	1142	4758											
GPR161	23432	broad.mit.edu	37	1	168054973	168054973	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:168054973G>A	ENST00000367838.1	-	8	1699	c.1386C>T	c.(1384-1386)taC>taT	p.Y462Y	GPR161_ENST00000367836.1_Silent_p.Y330Y|GPR161_ENST00000271357.5_Silent_p.Y462Y|GPR161_ENST00000537209.1_Silent_p.Y482Y|GPR161_ENST00000361697.2_Silent_p.Y462Y|GPR161_ENST00000539777.1_Silent_p.Y384Y|GPR161_ENST00000546300.1_Silent_p.Y348Y|GPR161_ENST00000367835.1_Silent_p.Y462Y	NM_001267611.1|NM_153832.2	NP_001254540.1|NP_722561.1	Q8N6U8	GP161_HUMAN	G protein-coupled receptor 161	462					multicellular organismal development	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|skin(1)	26	all_hematologic(923;0.215)					AGCTTGCTGCGTAACTGTCCA	0.512													16	36					0	0	1	0	0	A	168054973	G	A	168054973	2	1	81	1	0	0	0	0	0	0	0	1	6705	1140	40	1		1	GPR161	1	168054973	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	92339	168054973	81195648	1143	4759											
GPR161	23432	broad.mit.edu	37	1	168065970	168065970	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:168065970G>T	ENST00000367838.1	-	5	1188	c.875C>A	c.(874-876)tCt>tAt	p.S292Y	GPR161_ENST00000367836.1_Missense_Mutation_p.S160Y|GPR161_ENST00000271357.5_Missense_Mutation_p.S292Y|GPR161_ENST00000537209.1_Missense_Mutation_p.S312Y|GPR161_ENST00000361697.2_Missense_Mutation_p.S292Y|GPR161_ENST00000539777.1_Missense_Mutation_p.S214Y|GPR161_ENST00000546300.1_Missense_Mutation_p.S178Y|GPR161_ENST00000367835.1_Missense_Mutation_p.S292Y	NM_001267611.1|NM_153832.2	NP_001254540.1|NP_722561.1	Q8N6U8	GP161_HUMAN	G protein-coupled receptor 161	292					multicellular organismal development	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|skin(1)	26	all_hematologic(923;0.215)					GAGGGCCTCAGAGGCGATGAC	0.617													6	73					3.59834e-05	3.99423e-05	1	1	0	T	168065970	G	T	168065970	3	4	81	1	0	0	0	0	1	0	0	0	6705	942	33	4	730	4	GPR161	1	168065970	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	10997	168065970	81184651	1144	4760											
TIPRL	261726	broad.mit.edu	37	1	168160619	168160619	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:168160619A>C	ENST00000367833.2	+	4	542	c.397A>C	c.(397-399)Aca>Cca	p.T133P	TIPRL_ENST00000367830.3_Missense_Mutation_p.T133P	NM_152902.3	NP_690866.1	O75663	TIPRL_HUMAN	TIP41, TOR signaling pathway regulator-like (S. cerevisiae)	133					DNA damage checkpoint|negative regulation of protein phosphatase type 2A activity	cytoplasm	protein binding			breast(1)|kidney(1)|large_intestine(1)|ovary(2)|skin(1)	6	all_hematologic(923;0.215)					TGTACCTACAACAGATCATAT	0.328													14	119					0	0	1	0	0	C	168160619	A	C	168160619	3	2	81	1	0	0	0	0	1	0	0	0	15986	43	2	5	411	5	TIPRL	1	168160619	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	94649	168160619	81090002	1145	4761											
SLC19A2	10560	broad.mit.edu	37	1	169439274	169439274	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:169439274A>G	ENST00000236137.5	-	3	1194	c.958T>C	c.(958-960)Tgg>Cgg	p.W320R	SLC19A2_ENST00000367804.4_Missense_Mutation_p.W119R	NM_006996.2	NP_008927.1	O60779	S19A2_HUMAN	solute carrier family 19 (thiamine transporter), member 2	320					thiamine-containing compound metabolic process	integral to membrane|plasma membrane	folic acid binding|folic acid transporter activity|reduced folate carrier activity|thiamine uptake transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|upper_aerodigestive_tract(1)	11	all_hematologic(923;0.208)					ACTTTCTCCCACAGGCCCTGT	0.522													28	48					0	0	1	0	0	G	169439274	A	G	169439274	3	3	81	1	0	0	0	0	1	0	0	0	14484	159	6	3	551	3	SLC19A2	1	169439274	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	1278655	169439274	79811347	1146	4762											
F5	2153	broad.mit.edu	37	1	169495202	169495202	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:169495202T>G	ENST00000367796.3	-	18	5869	c.5668A>C	c.(5668-5670)Aac>Cac	p.N1890H	F5_ENST00000367797.3_Missense_Mutation_p.N1885H			P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	1885	F5/8 type A 3.|Plastocyanin-like 6.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	ACCTCTGTGTTTAGGAGCCAC	0.383													13	164					0	0	1	0	0	G	169495202	T	G	169495202	3	3	81	1	0	0	0	0	1	0	0	0	5376	1841	64	5	1053	5	F5	1	169495202	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	55928	169495202	79755419	1147	4763											
F5	2153	broad.mit.edu	37	1	169512306	169512306	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:169512306C>A	ENST00000367796.3	-	13	2238	c.2037G>T	c.(2035-2037)aaG>aaT	p.K679N	F5_ENST00000367797.3_Missense_Mutation_p.K674N			P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	674	F5/8 type A 2.|Plastocyanin-like 4.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	TCAGCCTCAGCTTTTTGCTTC	0.408													51	59					1.86277e-20	2.43338e-20	1	1	0	A	169512306	C	A	169512306	3	1	81	1	0	0	0	0	1	0	0	0	5376	796	28	4	4704	4	F5	1	169512306	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	17104	169512306	79738315	1148	4764											
SELP	6403	broad.mit.edu	37	1	169565263	169565263	+	Silent	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:169565263A>C	ENST00000263686.6	-	12	2038	c.2001T>G	c.(1999-2001)acT>acG	p.T667T	SELP_ENST00000367791.2_Silent_p.T481T|SELP_ENST00000458599.2_Silent_p.T483T|SELP_ENST00000367792.2_Silent_p.T483T|SELP_ENST00000367786.2_Silent_p.T605T|SELP_ENST00000367793.2_Silent_p.T605T|SELP_ENST00000367788.2_Silent_p.T605T|SELP_ENST00000367794.2_Silent_p.T605T	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)	667	Sushi 8.				platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)	CAAAGTAACAAGTGGTATTAA	0.522													36	427					0	0	1	0	0	C	169565263	A	C	169565263	2	2	81	1	0	0	0	0	0	0	0	1	14073	59	3	5		5	SELP	1	169565263	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	52957	169565263	79685358	1149	4765											
SELP	6403	broad.mit.edu	37	1	169582345	169582345	+	Missense_Mutation	SNP	C	C	A	rs145985654		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:169582345C>A	ENST00000263686.6	-	5	634	c.597G>T	c.(595-597)gaG>gaT	p.E199D	SELP_ENST00000367791.2_Missense_Mutation_p.E199D|SELP_ENST00000458599.2_Missense_Mutation_p.E199D|SELP_ENST00000367792.2_Missense_Mutation_p.E199D|SELP_ENST00000367786.2_Missense_Mutation_p.E199D|SELP_ENST00000367793.2_Missense_Mutation_p.E199D|SELP_ENST00000367788.2_Missense_Mutation_p.E199D|SELP_ENST00000367794.2_Missense_Mutation_p.E199D	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)	199	Sushi 1.				platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)	GTTCTCCACACTCTCTCACTG	0.443													21	28					2.39556e-15	3.05451e-15	1	1	0	A	169582345	C	A	169582345	3	1	81	1	0	0	0	0	1	0	0	0	14073	564	20	4	1943	4	SELP	1	169582345	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	17082	169582345	79668276	1150	4766											
SELE	6401	broad.mit.edu	37	1	169698503	169698503	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:169698503C>T	ENST00000333360.7	-	7	1053	c.914G>A	c.(913-915)aGg>aAg	p.R305K	SELE_ENST00000367777.1_Missense_Mutation_p.R305K|SELE_ENST00000367775.1_Missense_Mutation_p.R243K|C1orf112_ENST00000498289.1_Intron|SELE_ENST00000367780.4_Missense_Mutation_p.R243K|SELE_ENST00000367774.1_Missense_Mutation_p.R305K|SELE_ENST00000367779.4_Missense_Mutation_p.R305K|SELE_ENST00000367776.1_Missense_Mutation_p.R305K|SELE_ENST00000367782.4_Missense_Mutation_p.R305K|SELE_ENST00000367781.4_Missense_Mutation_p.R305K	NM_000450.2	NP_000441.2	P16581	LYAM2_HUMAN	selectin E	305	Sushi 3.				actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	all_hematologic(923;0.208)					GCGGACGGCCCTGCATGTCAC	0.498													10	23					0	0	1	0	0	T	169698503	C	T	169698503	3	4	81	1	0	0	0	0	1	0	0	0	14067	681	24	2	946	2	SELE	1	169698503	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	116158	169698503	79552118	1151	4767											
C1orf112	55732	broad.mit.edu	37	1	169773305	169773305	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:169773305G>A	ENST00000286031.6	+	6	1102	c.402G>A	c.(400-402)caG>caA	p.Q134Q	C1orf112_ENST00000498289.1_3'UTR|C1orf112_ENST00000359326.4_Silent_p.Q134Q|C1orf112_ENST00000413811.2_Silent_p.Q105Q|C1orf112_ENST00000456684.1_Silent_p.Q192Q	NM_018186.2	NP_060656.2	Q9NSG2	CA112_HUMAN	chromosome 1 open reading frame 112	134										breast(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|stomach(1)	34	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TTCAAAAGCAGTTAATGGAAC	0.393													69	78					0	0	1	0	0	A	169773305	G	A	169773305	2	1	81	1	0	0	0	0	0	0	0	1	1998	1020	36	2		2	C1orf112	1	169773305	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	74802	169773305	79477316	1152	4768											
C1orf112	55732	broad.mit.edu	37	1	169777011	169777011	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:169777011C>A	ENST00000286031.6	+	8	1343	c.643C>A	c.(643-645)Ctt>Att	p.L215I	C1orf112_ENST00000498289.1_3'UTR|C1orf112_ENST00000359326.4_Missense_Mutation_p.L215I|C1orf112_ENST00000413811.2_Missense_Mutation_p.L186I|C1orf112_ENST00000456684.1_Missense_Mutation_p.L273I	NM_018186.2	NP_060656.2	Q9NSG2	CA112_HUMAN	chromosome 1 open reading frame 112	215										breast(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|stomach(1)	34	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TGAAGACATTCTTTTCTCCTT	0.353													16	138					4.7546e-09	5.70666e-09	1	1	0	A	169777011	C	A	169777011	3	1	81	1	0	0	0	0	1	0	0	0	1998	913	32	4	665	4	C1orf112	1	169777011	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3706	169777011	79473610	1153	4769											
C1orf112	55732	broad.mit.edu	37	1	169806110	169806110	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:169806110C>A	ENST00000286031.6	+	17	2282	c.1582C>A	c.(1582-1584)Ctg>Atg	p.L528M	C1orf112_ENST00000498289.1_3'UTR|C1orf112_ENST00000359326.4_Missense_Mutation_p.L528M	NM_018186.2	NP_060656.2	Q9NSG2	CA112_HUMAN	chromosome 1 open reading frame 112	528										breast(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|stomach(1)	34	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					AGCAGAAAATCTGCCTCTGTG	0.428													14	63					0.00185496	0.00197056	1	1	0	A	169806110	C	A	169806110	3	1	81	1	0	0	0	0	1	0	0	0	1998	912	32	4	1640	4	C1orf112	1	169806110	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	29099	169806110	79444511	1154	4770											
SCYL3	57147	broad.mit.edu	37	1	169831808	169831808	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:169831808C>A	ENST00000367771.6	-	10	1300	c.1086G>T	c.(1084-1086)gaG>gaT	p.E362D	SCYL3_ENST00000367770.1_Missense_Mutation_p.E362D|SCYL3_ENST00000367772.4_Missense_Mutation_p.E362D|SCYL3_ENST00000470238.1_5'UTR	NM_020423.6	NP_065156.5	Q8IZE3	PACE1_HUMAN	SCY1-like 3 (S. cerevisiae)						cell migration	Golgi apparatus|lamellipodium	ATP binding|protein binding|protein kinase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					CCACGTAGGCCTCGATGTGAG	0.542													26	294					1.42536e-11	1.7684e-11	1	1	0	A	169831808	C	A	169831808	3	1	81	1	0	0	0	0	1	0	0	0	14003	680	24	4	1162	4	SCYL3	1	169831808	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	25698	169831808	79418813	1155	4771											
GORAB	92344	broad.mit.edu	37	1	170511715	170511715	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:170511715C>A	ENST00000367763.3	+	3	598	c.578C>A	c.(577-579)gCt>gAt	p.A193D	GORAB_ENST00000367762.1_Missense_Mutation_p.A193D	NM_152281.2	NP_689494.2	Q5T7V8	GORAB_HUMAN	golgin, RAB6-interacting	193						Golgi apparatus|nucleus				endometrium(2)|large_intestine(3)|liver(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	17						GCTCTTTTGGCTAAAGCTATT	0.413													17	184					3.41278e-10	4.16681e-10	1	1	0	A	170511715	C	A	170511715	3	1	81	1	0	0	0	0	1	0	0	0	6613	797	28	4	588	4	GORAB	1	170511715	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	679907	170511715	78738906	1156	4772											
PRRX1	5396	broad.mit.edu	37	1	170695481	170695481	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:170695481G>A	ENST00000239461.6	+	3	851	c.538G>A	c.(538-540)Gta>Ata	p.V180I	PRRX1_ENST00000476867.2_3'UTR|PRRX1_ENST00000367760.3_Missense_Mutation_p.V180I|PRRX1_ENST00000497230.2_Missense_Mutation_p.V180I	NM_022716.2	NP_073207.1	P54821	PRRX1_HUMAN	paired related homeobox 1	180						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	p.V180I(1)		large_intestine(2)|ovary(1)	3	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					GCAGCCCATCGTACCTCGTCC	0.562													20	42					0	0	1	0	0	A	170695481	G	A	170695481	3	1	81	1	0	0	0	0	1	0	0	0	12662	1145	40	1	548	1	PRRX1	1	170695481	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	183766	170695481	78555140	1157	4773											
FMO3	2328	broad.mit.edu	37	1	171080085	171080085	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:171080085G>T	ENST00000367755.4	+	6	885	c.774G>T	c.(772-774)aaG>aaT	p.K258N	FMO3_ENST00000538429.1_Missense_Mutation_p.K195N|FMO3_ENST00000542847.1_Missense_Mutation_p.K238N|FMO3_ENST00000392085.2_Missense_Mutation_p.K258N	NM_001002294.2	NP_001002294.1	P31513	FMO3_HUMAN	flavin containing monooxygenase 3	258					xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity			endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2)	31	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TGTACGTGAAGCAGATGAATG	0.448													16	108					4.14922e-12	5.17332e-12	1	1	0	T	171080085	G	T	171080085	3	4	81	1	0	0	0	0	1	0	0	0	5989	962	34	4	792	4	FMO3	1	171080085	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	384604	171080085	78170536	1158	4774											
FMO3	2328	broad.mit.edu	37	1	171086349	171086349	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:171086349A>G	ENST00000367755.4	+	9	1477	c.1366A>G	c.(1366-1368)Aaa>Gaa	p.K456E	FMO3_ENST00000538429.1_Missense_Mutation_p.K393E|FMO3_ENST00000542847.1_Missense_Mutation_p.K436E|FMO3_ENST00000392085.2_Missense_Mutation_p.K456E	NM_001002294.2	NP_001002294.1	P31513	FMO3_HUMAN	flavin containing monooxygenase 3	456					xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity			endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2)	31	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					CACAGATCCCAAATTGGCCAT	0.498													9	52					0	0	1	0	0	G	171086349	A	G	171086349	3	3	81	1	0	0	0	0	1	0	0	0	5989	131	5	3	1396	3	FMO3	1	171086349	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	6264	171086349	78164272	1159	4775	18	2									
FMO3	2328	broad.mit.edu	37	1	171086350	171086350	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:171086350A>C	ENST00000367755.4	+	9	1478	c.1367A>C	c.(1366-1368)aAa>aCa	p.K456T	FMO3_ENST00000538429.1_Missense_Mutation_p.K393T|FMO3_ENST00000542847.1_Missense_Mutation_p.K436T|FMO3_ENST00000392085.2_Missense_Mutation_p.K456T	NM_001002294.2	NP_001002294.1	P31513	FMO3_HUMAN	flavin containing monooxygenase 3	456					xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity			endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2)	31	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					ACAGATCCCAAATTGGCCATG	0.502													5	55					0	0	1	0	0	C	171086350	A	C	171086350	3	2	81	1	0	0	0	0	1	0	0	0	5989	14	1	5	1397	5	FMO3	1	171086350	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	1	171086350	78164271	1160	4776	18	2									
FMO2	2327	broad.mit.edu	37	1	171173168	171173168	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:171173168C>T	ENST00000441535.1	+	6	909	c.792C>T	c.(790-792)ttC>ttT	p.F264F	RP1-127D3.4_ENST00000445290.1_RNA|FMO2_ENST00000209929.7_Silent_p.F264F|RP1-127D3.4_ENST00000445909.1_RNA|FMO2_ENST00000529935.1_3'UTR|RP1-127D3.4_ENST00000422841.1_RNA	NM_001460.2	NP_001451.1	Q99518	FMO2_HUMAN	flavin containing monooxygenase 2 (non-functional)	264					drug metabolic process|NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|host cell microsome|integral to membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	22	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					ATCGGTGGTTCAACCATGAAA	0.433													16	39					0	0	1	0	0	T	171173168	C	T	171173168	2	4	81	1	0	0	0	0	0	0	0	1	5988	825	29	2		2	FMO2	1	171173168	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	86818	171173168	78077453	1161	4777											
FMO1	2326	broad.mit.edu	37	1	171251226	171251226	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:171251226T>G	ENST00000354841.4	+	6	1068	c.937T>G	c.(937-939)Ttt>Gtt	p.F313V	FMO1_ENST00000367750.3_Missense_Mutation_p.F313V|FMO1_ENST00000402921.2_Missense_Mutation_p.F250V|FMO1_ENST00000469112.1_3'UTR	NM_001282692.1	NP_001269621.1	Q01740	FMO1_HUMAN	flavin containing monooxygenase 1	313					NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum lumen|integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					CTCTGTCATATTTAACAATAC	0.408													17	63					0	0	1	0	0	G	171251226	T	G	171251226	3	3	81	1	0	0	0	0	1	0	0	0	5987	1493	52	4	959	4	FMO1	1	171251226	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	78058	171251226	77999395	1162	4778											
FMO1	2326	broad.mit.edu	37	1	171251411	171251411	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:171251411C>T	ENST00000354841.4	+	6	1253	c.1122C>T	c.(1120-1122)ccC>ccT	p.P374P	FMO1_ENST00000367750.3_Silent_p.P374P|FMO1_ENST00000402921.2_Silent_p.P311P|FMO1_ENST00000469112.1_3'UTR	NM_001282692.1	NP_001269621.1	Q01740	FMO1_HUMAN	flavin containing monooxygenase 1	374					NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum lumen|integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TCATCAAACCCTTGGGCTCCA	0.478													26	45					0	0	1	0	0	T	171251411	C	T	171251411	2	4	81	1	0	0	0	0	0	0	0	1	5987	668	24	2		2	FMO1	1	171251411	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	185	171251411	77999210	1163	4779											
FMO4	2329	broad.mit.edu	37	1	171303741	171303741	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:171303741C>A	ENST00000367749.3	+	8	1349	c.1019C>A	c.(1018-1020)cCt>cAt	p.P340H		NM_002022.1	NP_002013.1	P31512	FMO4_HUMAN	flavin containing monooxygenase 4	340					xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_cancers(6;3.9e-08)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					TTTGAAGAACCTCTTAAAAGC	0.388													6	97					0.000157383	0.000171784	1	1	0	A	171303741	C	A	171303741	3	1	81	1	0	0	0	0	1	0	0	0	5990	681	24	4	1041	4	FMO4	1	171303741	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	52330	171303741	77946880	1164	4780											
FMO4	2329	broad.mit.edu	37	1	171310771	171310771	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:171310771G>T	ENST00000367749.3	+	10	1800	c.1470G>T	c.(1468-1470)tgG>tgT	p.W490C		NM_002022.1	NP_002013.1	P31512	FMO4_HUMAN	flavin containing monooxygenase 4	490					xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_cancers(6;3.9e-08)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					TGACCCAGTGGGACAGAACAT	0.488													11	49					3.86212e-05	4.27865e-05	1	1	0	T	171310771	G	T	171310771	3	4	81	1	0	0	0	0	1	0	0	0	5990	1241	43	5	1500	5	FMO4	1	171310771	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	7030	171310771	77939850	1165	4781											
MYOC	4653	broad.mit.edu	37	1	171605812	171605812	+	Silent	SNP	C	C	T	rs142461632	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:171605812C>T	ENST00000037502.6	-	3	839	c.768G>A	c.(766-768)acG>acA	p.T256T		NM_000261.1	NP_000252.1	Q99972	MYOC_HUMAN	myocilin, trabecular meshwork inducible glucocorticoid response		Olfactomedin-like.				anatomical structure morphogenesis	cilium|extracellular space|rough endoplasmic reticulum	structural molecule activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(1)|urinary_tract(2)	28	all_cancers(6;5.47e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					CTGTTCTCAGCGTGAGAGGCT	0.478													6	80					0	0	1	0	0	T	171605812	C	T	171605812	2	4	81	1	0	0	0	0	0	0	0	1	10134	755	27	1		1	MYOC	1	171605812	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	295041	171605812	77644809	1166	4782											
VAMP4	8674	broad.mit.edu	37	1	171707535	171707535	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:171707535C>T	ENST00000236192.7	-	2	406	c.20G>A	c.(19-21)cGc>cAc	p.R7H	VAMP4_ENST00000415773.1_Missense_Mutation_p.R7H|VAMP4_ENST00000482519.1_5'UTR|VAMP4_ENST00000367740.2_Missense_Mutation_p.R7H	NM_001185127.1|NM_003762.4	NP_001172056.1|NP_003753.2	O75379	VAMP4_HUMAN	vesicle-associated membrane protein 4	7					vesicle-mediated transport	endosome|Golgi membrane|integral to membrane|lysosome				large_intestine(4)	4	all_cancers(6;1.42e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					ATTGAGGTGGCGCTTAAACTT	0.333													30	40					0	0	1	0	0	T	171707535	C	T	171707535	3	4	81	1	0	0	0	0	1	0	0	0	17175	768	27	1	433	1	VAMP4	1	171707535	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	101723	171707535	77543086	1167	4783											
DNM3	26052	broad.mit.edu	37	1	172348281	172348281	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:172348281G>T	ENST00000358155.4	+	18	2193	c.2017G>T	c.(2017-2019)Gat>Tat	p.D673Y	DNM3_ENST00000355305.5_Missense_Mutation_p.D679Y|DNM3_ENST00000367731.1_Missense_Mutation_p.D669Y	NM_015569.3	NP_056384.2	Q9UQ16	DYN3_HUMAN	dynamin 3	679	GED.				endocytosis|filopodium assembly|synapse assembly	dendritic spine|microtubule|perinuclear region of cytoplasm|postsynaptic density	GTP binding|GTPase activity|protein binding			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(16)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						ATGTATCCGAGATCTAATTCC	0.398													5	31					1.23904e-05	1.39156e-05	1	1	0	T	172348281	G	T	172348281	3	4	81	1	0	0	0	0	1	0	0	0	4700	942	33	4	2087	4	DNM3	1	172348281	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	640746	172348281	76902340	1168	4784											
PIGC	5279	broad.mit.edu	37	1	172411395	172411395	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:172411395G>A	ENST00000367728.1	-	1	1831	c.368C>T	c.(367-369)gCc>gTc	p.A123V	C1orf105_ENST00000367727.4_Intron|PIGC_ENST00000344529.4_Missense_Mutation_p.A123V|PIGC_ENST00000258324.1_Missense_Mutation_p.A123V|PIGC_ENST00000484368.1_Intron			Q92535	PIGC_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class C	123					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity			breast(1)|endometrium(1)|kidney(1)|lung(1)	4						GAAGACTAGGGCACTCTTCAG	0.488													8	27					0	0	1	0	0	A	172411395	G	A	172411395	3	1	81	1	0	0	0	0	1	0	0	0	11934	1203	42	2	529	2	PIGC	1	172411395	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	63114	172411395	76839226	1169	4785											
KLHL20	27252	broad.mit.edu	37	1	173721016	173721016	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:173721016C>A	ENST00000209884.4	+	4	847	c.711C>A	c.(709-711)gcC>gcA	p.A237A	KLHL20_ENST00000546011.1_Silent_p.A48A	NM_014458.3	NP_055273.2	Q9Y2M5	KLH20_HUMAN	kelch-like family member 20	237	BACK.				cytoskeleton organization|negative regulation of apoptosis|proteasomal ubiquitin-dependent protein catabolic process|response to interferon-alpha	actin cytoskeleton|cell surface|Cul3-RING ubiquitin ligase complex|Golgi apparatus|perinuclear region of cytoplasm|PML body	actin binding|interferon-gamma binding|ubiquitin-protein ligase activity			breast(3)|endometrium(6)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|upper_aerodigestive_tract(1)	34						CAGTGATGGCCTGGGTCAAAT	0.428													6	40					0.00198382	0.00209725	1	1	0	A	173721016	C	A	173721016	2	1	81	1	0	0	0	0	0	0	0	1	8418	668	24	4		4	KLHL20	1	173721016	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1309621	173721016	75529605	1170	4786											
KLHL20	27252	broad.mit.edu	37	1	173725148	173725148	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:173725148C>A	ENST00000209884.4	+	6	1074	c.938C>A	c.(937-939)cCt>cAt	p.P313H	KLHL20_ENST00000546011.1_Missense_Mutation_p.P124H	NM_014458.3	NP_055273.2	Q9Y2M5	KLH20_HUMAN	kelch-like family member 20	313					cytoskeleton organization|negative regulation of apoptosis|proteasomal ubiquitin-dependent protein catabolic process|response to interferon-alpha	actin cytoskeleton|cell surface|Cul3-RING ubiquitin ligase complex|Golgi apparatus|perinuclear region of cytoplasm|PML body	actin binding|interferon-gamma binding|ubiquitin-protein ligase activity			breast(3)|endometrium(6)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|upper_aerodigestive_tract(1)	34						CCACGGAAACCTATCCGATGT	0.408													8	22					0.000157383	0.000171784	1	1	0	A	173725148	C	A	173725148	3	1	81	1	0	0	0	0	1	0	0	0	8418	681	24	4	956	4	KLHL20	1	173725148	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	4132	173725148	75525473	1171	4787											
KLHL20	27252	broad.mit.edu	37	1	173744789	173744789	+	Silent	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:173744789T>A	ENST00000209884.4	+	10	1582	c.1446T>A	c.(1444-1446)ccT>ccA	p.P482P	KLHL20_ENST00000546011.1_Silent_p.P293P	NM_014458.3	NP_055273.2	Q9Y2M5	KLH20_HUMAN	kelch-like family member 20	482					cytoskeleton organization|negative regulation of apoptosis|proteasomal ubiquitin-dependent protein catabolic process|response to interferon-alpha	actin cytoskeleton|cell surface|Cul3-RING ubiquitin ligase complex|Golgi apparatus|perinuclear region of cytoplasm|PML body	actin binding|interferon-gamma binding|ubiquitin-protein ligase activity			breast(3)|endometrium(6)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|upper_aerodigestive_tract(1)	34						GTTACAATCCTCAGGAAAACA	0.453													4	33					0	0	1	0	0	A	173744789	T	A	173744789	2	1	81	1	0	0	0	0	0	0	0	1	8418	1538	54	5		5	KLHL20	1	173744789	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	19641	173744789	75505832	1172	4788											
CENPL	91687	broad.mit.edu	37	1	173780371	173780371	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:173780371C>T	ENST00000356198.2	-	3	352	c.67G>A	c.(67-69)Ggt>Agt	p.G23S	CENPL_ENST00000345664.6_Missense_Mutation_p.G23S|CENPL_ENST00000367710.3_Missense_Mutation_p.G23S	NM_001127181.2	NP_001120653.1	Q8N0S6	CENPL_HUMAN	centromere protein L	23					mitotic prometaphase	chromosome, centromeric region|cytosol|nucleus				breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(3)	11						GGAGTGGCACCTATAAAGTAA	0.448													60	71					0	0	1	0	0	T	173780371	C	T	173780371	3	4	81	1	0	0	0	0	1	0	0	0	3258	681	24	2	1125	2	CENPL	1	173780371	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	35582	173780371	75470250	1173	4789											
DARS2	55157	broad.mit.edu	37	1	173799819	173799819	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:173799819A>G	ENST00000361951.4	+	4	1043	c.316A>G	c.(316-318)Att>Gtt	p.I106V	DARS2_ENST00000239457.5_5'UTR	NM_018122.4	NP_060592.2	Q6PI48	SYDM_HUMAN	aspartyl-tRNA synthetase 2, mitochondrial	106					tRNA aminoacylation for protein translation	mitochondrial matrix|nucleus	aspartate-tRNA ligase activity|ATP binding|nucleic acid binding			breast(4)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|urinary_tract(1)	30					L-Aspartic Acid(DB00128)	TGTGAAGAAGATTTTATGTGA	0.423													13	72					0	0	1	0	0	G	173799819	A	G	173799819	3	3	81	1	0	0	0	0	1	0	0	0	4266	333	12	3	330	3	DARS2	1	173799819	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	19448	173799819	75450802	1174	4790											
RABGAP1L	9910	broad.mit.edu	37	1	174210653	174210653	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:174210653C>T	ENST00000251507.4	+	5	749	c.575C>T	c.(574-576)gCa>gTa	p.A192V	RABGAP1L_ENST00000357444.6_Missense_Mutation_p.A155V|RABGAP1L_ENST00000367689.3_5'UTR	NM_014857.4	NP_055672.3	Q5R372	RBG1L_HUMAN	RAB GTPase activating protein 1-like	192	PID.				regulation of protein localization	early endosome|Golgi apparatus|nucleus	Rab GTPase activator activity			NS(1)|breast(2)|endometrium(4)|kidney(5)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(2)	45						GTGGAGATAGCATCTTTTCCA	0.363													18	39					0	0	1	0	0	T	174210653	C	T	174210653	3	4	81	1	0	0	0	0	1	0	0	0	13017	710	25	2	589	2	RABGAP1L	1	174210653	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	410834	174210653	75039968	1175	4791											
RABGAP1L	9910	broad.mit.edu	37	1	174671315	174671315	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:174671315C>A	ENST00000251507.4	+	17	2264	c.2090C>A	c.(2089-2091)tCc>tAc	p.S697Y	RABGAP1L_ENST00000367687.1_Missense_Mutation_p.S23Y|RABGAP1L_ENST00000367686.3_3'UTR|RABGAP1L_ENST00000347255.2_Missense_Mutation_p.S24Y|RABGAP1L_ENST00000325589.5_Missense_Mutation_p.S4Y	NM_014857.4	NP_055672.3	Q5R372	RBG1L_HUMAN	RAB GTPase activating protein 1-like	697	Rab-GAP TBC.				regulation of protein localization	early endosome|Golgi apparatus|nucleus	Rab GTPase activator activity			NS(1)|breast(2)|endometrium(4)|kidney(5)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(2)	45						ATGTATGCATCCCAGTGGTTT	0.438													40	53					6.1244e-12	7.62814e-12	1	1	0	A	174671315	C	A	174671315	3	1	81	1	0	0	0	0	1	0	0	0	13017	855	30	5	2152	5	RABGAP1L	1	174671315	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	460662	174671315	74579306	1176	4792											
TNN	63923	broad.mit.edu	37	1	175049406	175049406	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:175049406C>A	ENST00000239462.4	+	4	1005	c.892C>A	c.(892-894)Ctg>Atg	p.L298M		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	298	Fibronectin type-III 1.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		CTACTACCCCCTGGGGAAGGA	0.577													12	44					6.40141e-05	7.07494e-05	1	1	0	A	175049406	C	A	175049406	3	1	81	1	0	0	0	0	1	0	0	0	16383	680	24	4	902	4	TNN	1	175049406	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	378091	175049406	74201215	1177	4793											
TNN	63923	broad.mit.edu	37	1	175087717	175087717	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:175087717C>A	ENST00000239462.4	+	11	2520	c.2407C>A	c.(2407-2409)Ctg>Atg	p.L803M		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	803	Fibronectin type-III 7.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		CCCCCAAAACCTGGTCACTGA	0.522													6	67					0.00116845	0.00124301	1	1	0	A	175087717	C	A	175087717	3	1	81	1	0	0	0	0	1	0	0	0	16383	680	24	4	2445	4	TNN	1	175087717	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	38311	175087717	74162904	1178	4794											
TNN	63923	broad.mit.edu	37	1	175116130	175116130	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:175116130C>T	ENST00000239462.4	+	19	3936	c.3823C>T	c.(3823-3825)Cgc>Tgc	p.R1275C		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	1275	Fibrinogen C-terminal.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		GTTGAAAATCCGCCCTCATGG	0.527											OREG0013992	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	47					0	0	1	0	0	T	175116130	C	T	175116130	3	4	81	1	0	0	0	0	1	0	0	0	16383	652	23	1	3893	1	TNN	1	175116130	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	28413	175116130	74134491	1179	4795											
TNR	7143	broad.mit.edu	37	1	175299312	175299312	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:175299312G>A	ENST00000367674.2	-	21	4399	c.3691C>T	c.(3691-3693)Cgg>Tgg	p.R1231W	TNR_ENST00000263525.2_Missense_Mutation_p.R1231W|RP3-518E13.2_ENST00000569593.1_RNA			Q92752	TENR_HUMAN	tenascin R		Fibrinogen C-terminal.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					TGGCCATCCCGCATGTCCACG	0.577													24	22					0	0	1	0	0	A	175299312	G	A	175299312	3	1	81	1	0	0	0	0	1	0	0	0	16398	1086	38	1	397	1	TNR	1	175299312	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	183182	175299312	73951309	1180	4796											
TNR	7143	broad.mit.edu	37	1	175324739	175324739	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:175324739C>T	ENST00000367674.2	-	17	3857	c.3149G>A	c.(3148-3150)aGt>aAt	p.S1050N	TNR_ENST00000263525.2_Missense_Mutation_p.S1050N			Q92752	TENR_HUMAN	tenascin R		Fibronectin type-III 9.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		p.S1050I(1)		NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					GGTGACTTCACTGGCTGTCAG	0.552													21	50					0	0	1	0	0	T	175324739	C	T	175324739	3	4	81	1	0	0	0	0	1	0	0	0	16398	565	20	2	955	2	TNR	1	175324739	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	25427	175324739	73925882	1181	4797											
TNR	7143	broad.mit.edu	37	1	175360539	175360539	+	Silent	SNP	G	G	A	rs148973031		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:175360539G>A	ENST00000367674.2	-	7	2100	c.1392C>T	c.(1390-1392)agC>agT	p.S464S	TNR_ENST00000263525.2_Silent_p.S464S			Q92752	TENR_HUMAN	tenascin R		Fibronectin type-III 2.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		p.S464S(3)		NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					ACGTAACATCGCTGGGGACCT	0.522													17	21					0	0	1	0	0	A	175360539	G	A	175360539	2	1	81	1	0	0	0	0	0	0	0	1	16398	1078	38	1		1	TNR	1	175360539	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	35800	175360539	73890082	1182	4798											
TNR	7143	broad.mit.edu	37	1	175372720	175372720	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:175372720G>T	ENST00000367674.2	-	4	1240	c.532C>A	c.(532-534)Cac>Aac	p.H178N	TNR_ENST00000263525.2_Missense_Mutation_p.H178N			Q92752	TENR_HUMAN	tenascin R		Cys-rich.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					AAGTTGCCGTGGCCACTGCAG	0.562													48	80					1.72184e-34	2.30426e-34	1	1	0	T	175372720	G	T	175372720	3	4	81	1	0	0	0	0	1	0	0	0	16398	1348	47	5	3624	5	TNR	1	175372720	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	12181	175372720	73877901	1183	4799											
RFWD2	64326	broad.mit.edu	37	1	176105629	176105629	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:176105629C>T	ENST00000367669.3	-	7	1400	c.886G>A	c.(886-888)Gtg>Atg	p.V296M	RFWD2_ENST00000308769.8_Intron	NM_022457.5	NP_071902.2	Q8NHY2	RFWD2_HUMAN	ring finger and WD repeat domain 2, E3 ubiquitin protein ligase	296					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest	centrosome|cytosol|focal adhesion|nuclear speck	protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						CTTACTTCCACTCTCTTAATA	0.343													7	26					0	0	1	0	0	T	176105629	C	T	176105629	3	4	81	1	0	0	0	0	1	0	0	0	13312	565	20	2	1365	2	RFWD2	1	176105629	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	732909	176105629	73144992	1184	4800											
PAPPA2	60676	broad.mit.edu	37	1	176525904	176525904	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:176525904G>A	ENST00000367662.3	+	2	1610	c.446G>A	c.(445-447)gGc>gAc	p.G149D	PAPPA2_ENST00000367661.3_Missense_Mutation_p.G149D	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	149					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						GCTTATCTCGGCAATCAAAGA	0.552													50	107					0	0	1	0	0	A	176525904	G	A	176525904	3	1	81	1	0	0	0	0	1	0	0	0	11480	1203	42	2	448	2	PAPPA2	1	176525904	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	420275	176525904	72724717	1185	4801											
PAPPA2	60676	broad.mit.edu	37	1	176679142	176679142	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:176679142T>C	ENST00000367662.3	+	11	4645	c.3481T>C	c.(3481-3483)Tat>Cat	p.Y1161H		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1161					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						TTGCTACATGTATGAGGGAGA	0.418													21	80					0	0	1	0	0	C	176679142	T	C	176679142	3	2	81	1	0	0	0	0	1	0	0	0	11480	1638	57	3	3572	3	PAPPA2	1	176679142	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	153238	176679142	72571479	1186	4802											
PAPPA2	60676	broad.mit.edu	37	1	176708801	176708802	+	Frame_Shift_Ins	INS	-	-	T	rs75317943		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:176708801_176708802insT	ENST00000367662.3	+	13	5002_5003	c.3838_3839insT	c.(3838-3840)attfs	p.I1280fs		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1280					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						AGCAATTTTTATTTTTTTGACA	0.446													38	73	---	---	---	---						T	176708802	-	T	176708801	7	5	81	1	0	1	1	0	0	0	0	0	11480	449	16	0	3937	0	PAPPA2	1	176708801	Frame_Shift_Ins	INS	-	TCGA-DU-6392-01A-11D-1705-08	29659	176708801	72541820	1187	4803											
PAPPA2	60676	broad.mit.edu	37	1	176762783	176762783	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:176762783G>T	ENST00000367662.3	+	20	6272	c.5108G>T	c.(5107-5109)tGg>tTg	p.W1703L		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1703	Sushi 5.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						CTGGAGCACTGGATGGAACCT	0.478													3	40					0.00024832	0.000269806	1	1	0	T	176762783	G	T	176762783	3	4	81	1	0	0	0	0	1	0	0	0	11480	1357	47	5	5235	5	PAPPA2	1	176762783	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	53982	176762783	72487838	1188	4804											
ASTN1	460	broad.mit.edu	37	1	176833575	176833575	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:176833575G>A	ENST00000367654.3	-	23	3965	c.3754C>T	c.(3754-3756)Cgg>Tgg	p.R1252W	ASTN1_ENST00000361833.2_Missense_Mutation_p.R1244W|ASTN1_ENST00000367657.3_Intron	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1						cell migration|neuron cell-cell adhesion	integral to membrane		p.R1244W(1)		NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						GAGCTGCGCCGCAAGCTTATC	0.567													27	29					0	0	1	0	0	A	176833575	G	A	176833575	3	1	81	1	0	0	0	0	1	0	0	0	1063	1086	38	1	158	1	ASTN1	1	176833575	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	70792	176833575	72417046	1189	4805											
ASTN1	460	broad.mit.edu	37	1	176853555	176853555	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:176853555G>T	ENST00000367654.3	-	19	3381	c.3170C>A	c.(3169-3171)cCa>cAa	p.P1057Q	ASTN1_ENST00000361833.2_Missense_Mutation_p.P1049Q|ASTN1_ENST00000424564.2_Missense_Mutation_p.P1049Q|ASTN1_ENST00000367657.3_Missense_Mutation_p.P1049Q	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1		Fibronectin type-III 1.				cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						CACCCCGATTGGTGGCTCTGA	0.532													13	76					0.0135373	0.014045	1	1	0	T	176853555	G	T	176853555	3	4	81	1	0	0	0	0	1	0	0	0	1063	1348	47	5	762	5	ASTN1	1	176853555	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	19980	176853555	72397066	1190	4806											
ASTN1	460	broad.mit.edu	37	1	176913103	176913103	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:176913103C>T	ENST00000367654.3	-	14	2536	c.2325G>A	c.(2323-2325)gtG>gtA	p.V775V	ASTN1_ENST00000361833.2_Silent_p.V767V|ASTN1_ENST00000424564.2_Silent_p.V767V|ASTN1_ENST00000367657.3_Silent_p.V767V|ASTN1_ENST00000281881.3_5'UTR	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1						cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						CAGTGGCCACCACAAGACCAT	0.517													13	39					0	0	1	0	0	T	176913103	C	T	176913103	2	4	81	1	0	0	0	0	0	0	0	1	1063	581	21	2		2	ASTN1	1	176913103	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	59548	176913103	72337518	1191	4807											
SEC16B	89866	broad.mit.edu	37	1	177899015	177899015	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:177899015C>T	ENST00000308284.6	-	26	3250	c.3161G>A	c.(3160-3162)cGc>cAc	p.R1054H	SEC16B_ENST00000495165.1_5'UTR|RP4-798P15.3_ENST00000354921.3_RNA	NM_033127.2	NP_149118.2	Q96JE7	SC16B_HUMAN	SEC16 homolog B (S. cerevisiae)	1054					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						GGTGGGATAGCGACGCTGAGC	0.512													13	13					0	0	1	0	0	T	177899015	C	T	177899015	3	4	81	1	0	0	0	0	1	0	0	0	14041	768	27	1	25	1	SEC16B	1	177899015	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	985912	177899015	71351606	1192	4808											
SEC16B	89866	broad.mit.edu	37	1	177911069	177911069	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:177911069C>A	ENST00000308284.6	-	16	2077	c.1988G>T	c.(1987-1989)aGc>aTc	p.S663I	RP4-798P15.3_ENST00000354921.3_RNA	NM_033127.2	NP_149118.2	Q96JE7	SC16B_HUMAN	SEC16 homolog B (S. cerevisiae)	663					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						AGGGTGACTGCTCTCTCCCTG	0.498													21	58					7.41877e-09	8.87549e-09	1	1	0	A	177911069	C	A	177911069	3	1	81	1	0	0	0	0	1	0	0	0	14041	797	28	4	1238	4	SEC16B	1	177911069	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	12054	177911069	71339552	1193	4809											
RASAL2	9462	broad.mit.edu	37	1	178408655	178408655	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:178408655C>A	ENST00000448150.3	+	6	1537	c.719C>A	c.(718-720)cCt>cAt	p.P240H	RASAL2_ENST00000367649.3_Missense_Mutation_p.P258H|RASAL2_ENST00000462775.1_Missense_Mutation_p.P110H	NM_170692.2	NP_733793.2	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2	110	C2.|Poly-Lys.				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity			biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						AGAGGGGAACCTGTATCAGTG	0.433													27	53					3.70037e-05	4.10724e-05	1	1	0	A	178408655	C	A	178408655	3	1	81	1	0	0	0	0	1	0	0	0	13116	681	24	4	812	4	RASAL2	1	178408655	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	497586	178408655	70841966	1194	4810											
RASAL2	9462	broad.mit.edu	37	1	178421775	178421775	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:178421775C>T	ENST00000448150.3	+	11	2761	c.1943C>T	c.(1942-1944)gCc>gTc	p.A648V	RASAL2_ENST00000367649.3_Missense_Mutation_p.A666V|RASAL2_ENST00000462775.1_Missense_Mutation_p.A518V	NM_170692.2	NP_733793.2	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2	518					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity			biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						CAGAACCTGGCCAACTTTGCC	0.428													6	95					0	0	1	0	0	T	178421775	C	T	178421775	3	4	81	1	0	0	0	0	1	0	0	0	13116	739	26	2	2056	2	RASAL2	1	178421775	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	13120	178421775	70828846	1195	4811											
RASAL2	9462	broad.mit.edu	37	1	178433521	178433521	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:178433521C>T	ENST00000448150.3	+	15	4146	c.3328C>T	c.(3328-3330)Cta>Tta	p.L1110L	RASAL2_ENST00000367649.3_Silent_p.L1121L|RASAL2_ENST00000462775.1_Silent_p.L980L	NM_170692.2	NP_733793.2	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2	980					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity			biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						TGAGCAAAATCTAGATGAAGC	0.458													14	27					0	0	1	0	0	T	178433521	C	T	178433521	2	4	81	1	0	0	0	0	0	0	0	1	13116	912	32	2		2	RASAL2	1	178433521	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	11746	178433521	70817100	1196	4812											
ANGPTL1	9068	broad.mit.edu	37	1	178822899	178822899	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:178822899C>T	ENST00000234816.2	-	4	1294	c.847G>A	c.(847-849)Gca>Aca	p.A283T	RALGPS2_ENST00000367635.3_Intron|RALGPS2_ENST00000367634.2_Intron|ANGPTL1_ENST00000367629.1_Missense_Mutation_p.A283T	NM_004673.3	NP_004664.1	O95841	ANGL1_HUMAN	angiopoietin-like 1	283	Fibrinogen C-terminal.					extracellular space	receptor binding			breast(2)|endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)	14						GCTTCTTTTGCTTGCTGACAG	0.343													26	74					0	0	1	0	0	T	178822899	C	T	178822899	3	4	81	1	0	0	0	0	1	0	0	0	609	797	28	2	640	2	ANGPTL1	1	178822899	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	389378	178822899	70427722	1197	4813											
RALGPS2	55103	broad.mit.edu	37	1	178875981	178875981	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:178875981C>T	ENST00000367635.3	+	19	2039	c.1701C>T	c.(1699-1701)gcC>gcT	p.A567A	RALGPS2_ENST00000367634.2_Silent_p.A541A	NM_152663.3	NP_689876.2	Q86X27	RGPS2_HUMAN	Ral GEF with PH domain and SH3 binding motif 2	567	PH.|Required for stimulation of nucleotide exchange by RALA (By similarity).				small GTPase mediated signal transduction	cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity|protein binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						TGAGTGCAGCCTGCCAAAGTA	0.348													6	51					0	0	1	0	0	T	178875981	C	T	178875981	2	4	81	1	0	0	0	0	0	0	0	1	13070	668	24	2		2	RALGPS2	1	178875981	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	53082	178875981	70374640	1198	4814											
FAM20B	9917	broad.mit.edu	37	1	179013184	179013184	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:179013184G>A	ENST00000263733.4	+	2	538	c.202G>A	c.(202-204)Gcc>Acc	p.A68T		NM_014864.3	NP_055679.1	O75063	XYLK_HUMAN	family with sequence similarity 20, member B	68						Golgi membrane|integral to membrane	ATP binding|kinase activity|phosphotransferase activity, alcohol group as acceptor			breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(3)	14						GGAGATTGCAGCCCAGTGGGT	0.582													14	43					0	0	1	0	0	A	179013184	G	A	179013184	3	1	81	1	0	0	0	0	1	0	0	0	5570	971	34	2	204	2	FAM20B	1	179013184	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	137203	179013184	70237437	1199	4815											
TOR3A	64222	broad.mit.edu	37	1	179057219	179057219	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:179057219T>C	ENST00000367627.3	+	4	1565	c.813T>C	c.(811-813)ttT>ttC	p.F271F	TOR3A_ENST00000352445.6_Silent_p.F271F|TOR3A_ENST00000495145.1_3'UTR	NM_022371.3	NP_071766.2	Q9H497	TOR3A_HUMAN	torsin family 3, member A	271					chaperone mediated protein folding requiring cofactor	endoplasmic reticulum	ATP binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|urinary_tract(1)	13						TCTTTCTGTTTCTCAGGTGGG	0.597													32	66					0	0	1	0	0	C	179057219	T	C	179057219	2	2	81	1	0	0	0	0	0	0	0	1	16437	1780	62	3		3	TOR3A	1	179057219	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	44035	179057219	70193402	1200	4816											
TDRD5	163589	broad.mit.edu	37	1	179562841	179562841	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:179562841G>T	ENST00000444136.1	+	3	729	c.479G>T	c.(478-480)aGa>aTa	p.R160I	TDRD5_ENST00000294848.8_Missense_Mutation_p.R160I|TDRD5_ENST00000367614.1_Missense_Mutation_p.R160I	NM_001199085.1|NM_001199089.1	NP_001186014.1|NP_001186018.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	160	Lotus/OST-HTH 2.				DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						TTTGCCAAAAGATTTGGACGA	0.418													11	151					1.08611e-07	1.27405e-07	1	1	0	T	179562841	G	T	179562841	3	4	81	1	0	0	0	0	1	0	0	0	15792	942	33	4	485	4	TDRD5	1	179562841	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	505622	179562841	69687780	1201	4817											
TOR1AIP2	163590	broad.mit.edu	37	1	179815811	179815811	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:179815811T>A	ENST00000367612.3	-	6	1195	c.808A>T	c.(808-810)Agt>Tgt	p.S270C	TOR1AIP2_ENST00000609928.1_Missense_Mutation_p.S270C	NM_145034.4	NP_659471.1	Q8NFQ8	TOIP2_HUMAN	torsin A interacting protein 2	270						endoplasmic reticulum membrane|integral to membrane	protein binding			cervix(1)|endometrium(3)|large_intestine(1)|lung(10)|ovary(1)|skin(2)	18						AGGAAGGAACTCTGGCCTGGA	0.507													40	63					0	0	1	0	0	A	179815811	T	A	179815811	3	1	81	1	0	0	0	0	1	0	0	0	16434	1551	54	5	608	5	TOR1AIP2	1	179815811	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	252970	179815811	69434810	1202	4818											
TOR1AIP2	163590	broad.mit.edu	37	1	179834104	179834104	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:179834104G>A	ENST00000553856.1	-	1	207	c.208C>T	c.(208-210)Ctt>Ttt	p.L70F	TOR1AIP2_ENST00000609928.1_Intron|TOR1AIP2_ENST00000482587.1_5'UTR|TOR1AIP2_ENST00000367612.3_Intron	NM_022347.3	NP_071742.1																					GCCCACTCAAGTGGGAAAGAC	0.443													26	140					0	0	1	0	0	A	179834104	G	A	179834104	3	1	81	1	0	0	0	0	1	0	0	0	16434	1029	36	2	1620	2	TOR1AIP2	1	179834104	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	18293	179834104	69416517	1203	4819											
TOR1AIP1	26092	broad.mit.edu	37	1	179887080	179887080	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:179887080A>G	ENST00000606911.2	+	10	1649	c.1458A>G	c.(1456-1458)gcA>gcG	p.A486A	TOR1AIP1_ENST00000435319.4_Silent_p.A365A|TOR1AIP1_ENST00000528443.2_Silent_p.A487A|TOR1AIP1_ENST00000271583.3_Silent_p.A502A			Q5JTV8	TOIP1_HUMAN	torsin A interacting protein 1							integral to membrane|nuclear inner membrane				breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	18						CATTTCCCGCAGGCTCTACTT	0.443													5	58					0	0	1	0	0	G	179887080	A	G	179887080	2	3	81	1	0	0	0	0	0	0	0	1	16433	175	7	3		3	TOR1AIP1	1	179887080	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	52976	179887080	69363541	1204	4820											
TOR1AIP1	26092	broad.mit.edu	37	1	179887200	179887200	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:179887200G>T	ENST00000606911.2	+	10	1769	c.1578G>T	c.(1576-1578)aaG>aaT	p.K526N	TOR1AIP1_ENST00000435319.4_Missense_Mutation_p.K405N|TOR1AIP1_ENST00000528443.2_Missense_Mutation_p.K527N|TOR1AIP1_ENST00000271583.3_Missense_Mutation_p.K542N			Q5JTV8	TOIP1_HUMAN	torsin A interacting protein 1							integral to membrane|nuclear inner membrane				breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	18						TAGGCCTAAAGGAAGTTGAAG	0.408													42	46					4.17593e-13	5.25654e-13	1	1	0	T	179887200	G	T	179887200	3	4	81	1	0	0	0	0	1	0	0	0	16433	991	35	4	1616	4	TOR1AIP1	1	179887200	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	120	179887200	69363421	1205	4821											
CEP350	9857	broad.mit.edu	37	1	179983260	179983260	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:179983260G>A	ENST00000367607.3	+	10	2090	c.1672G>A	c.(1672-1674)Gca>Aca	p.A558T		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	558						centrosome|nucleus|spindle				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						GAAGTCATCAGCACCAGTACA	0.433													11	6					0	0	1	0	0	A	179983260	G	A	179983260	3	1	81	1	0	0	0	0	1	0	0	0	3276	971	34	2	1706	2	CEP350	1	179983260	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	96060	179983260	69267361	1206	4822											
CEP350	9857	broad.mit.edu	37	1	179989222	179989222	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:179989222G>A	ENST00000367607.3	+	12	2731	c.2313G>A	c.(2311-2313)ttG>ttA	p.L771L		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	771						centrosome|nucleus|spindle				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						TAGGAATTTTGCATAAGGATT	0.413													58	80					0	0	1	0	0	A	179989222	G	A	179989222	2	1	81	1	0	0	0	0	0	0	0	1	3276	1310	46	2		2	CEP350	1	179989222	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	5962	179989222	69261399	1207	4823											
CEP350	9857	broad.mit.edu	37	1	180012259	180012259	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:180012259G>A	ENST00000367607.3	+	20	4849	c.4431G>A	c.(4429-4431)ctG>ctA	p.L1477L		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	1477						centrosome|nucleus|spindle				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						TTGCAATACTGTATGACCACC	0.428													9	106					0	0	1	0	0	A	180012259	G	A	180012259	2	1	81	1	0	0	0	0	0	0	0	1	3276	1364	48	2		2	CEP350	1	180012259	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	23037	180012259	69238362	1208	4824											
CEP350	9857	broad.mit.edu	37	1	180044227	180044227	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:180044227C>T	ENST00000367607.3	+	28	6056	c.5638C>T	c.(5638-5640)Cga>Tga	p.R1880*		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	1880						centrosome|nucleus|spindle				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						AGAGTGGAAGCGACGTTTAGA	0.428													5	19					0	0	1	0	0	T	180044227	C	T	180044227	4	4	81	1	0	0	0	0	0	1	0	0	3276	760	27	1	5744	1	CEP350	1	180044227	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	31968	180044227	69206394	1209	4825											
CEP350	9857	broad.mit.edu	37	1	180056829	180056829	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:180056829C>T	ENST00000367607.3	+	32	6820	c.6402C>T	c.(6400-6402)atC>atT	p.I2134I	CEP350_ENST00000490141.1_3'UTR	NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	2134						centrosome|nucleus|spindle				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						AACCCAAGATCAAACCCCTCA	0.393													4	5					0	0	1	0	0	T	180056829	C	T	180056829	2	4	81	1	0	0	0	0	0	0	0	1	3276	816	29	2		2	CEP350	1	180056829	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	12602	180056829	69193792	1210	4826											
CEP350	9857	broad.mit.edu	37	1	180063428	180063428	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:180063428C>A	ENST00000367607.3	+	34	8606	c.8188C>A	c.(8188-8190)Ctg>Atg	p.L2730M	CEP350_ENST00000490141.1_3'UTR	NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	2730						centrosome|nucleus|spindle				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						AAAAAACCAACTGGAAGCCCA	0.373													11	29					6.40141e-05	7.07494e-05	1	1	0	A	180063428	C	A	180063428	3	1	81	1	0	0	0	0	1	0	0	0	3276	564	20	4	8318	4	CEP350	1	180063428	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	6599	180063428	69187193	1211	4827											
CEP350	9857	broad.mit.edu	37	1	180064777	180064777	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:180064777C>T	ENST00000367607.3	+	35	9049	c.8631C>T	c.(8629-8631)gaC>gaT	p.D2877D	CEP350_ENST00000490141.1_3'UTR	NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	2877						centrosome|nucleus|spindle				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						TTGATGAAGACTTTGGTTTGA	0.448													8	51					0	0	1	0	0	T	180064777	C	T	180064777	2	4	81	1	0	0	0	0	0	0	0	1	3276	564	20	2		2	CEP350	1	180064777	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1349	180064777	69185844	1212	4828											
LHX4	89884	broad.mit.edu	37	1	180217458	180217458	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:180217458G>A	ENST00000263726.2	+	2	359	c.115G>A	c.(115-117)Gac>Aac	p.D39N		NM_033343.3	NP_203129.1	Q969G2	LHX4_HUMAN	LIM homeobox 4	39	LIM zinc-binding 1.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)	16						GCACATCCTGGACAAGTTCAT	0.597													16	19					0	0	1	0	0	A	180217458	G	A	180217458	3	1	81	1	0	0	0	0	1	0	0	0	8813	1174	41	2	121	2	LHX4	1	180217458	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	152681	180217458	69033163	1213	4829											
XPR1	9213	broad.mit.edu	37	1	180780624	180780624	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:180780624G>A	ENST00000367590.4	+	7	961	c.763G>A	c.(763-765)Gct>Act	p.A255T	XPR1_ENST00000367589.3_Splice_Site_p.A255T	NM_004736.3	NP_004727.2	Q9UBH6	XPR1_HUMAN	xenotropic and polytropic retrovirus receptor 1	255						integral to plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	35						TGTGCTTGCCGGTAAGTAGTT	0.373													4	78					0	0	1	0	0	A	180780624	G	A	180780624	5	1	81	1	0	0	0	0	0	0	1	0	17511	1130	39	1	789	1	XPR1	1	180780624	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	563166	180780624	68469997	1214	4830											
XPR1	9213	broad.mit.edu	37	1	180804025	180804025	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:180804025G>T	ENST00000367590.4	+	10	1348	c.1150G>T	c.(1150-1152)Gcc>Tcc	p.A384S	XPR1_ENST00000367589.3_Missense_Mutation_p.A384S	NM_004736.3	NP_004727.2	Q9UBH6	XPR1_HUMAN	xenotropic and polytropic retrovirus receptor 1	384						integral to plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	35						AGTATTTACAGCCCCCTTCCA	0.403													15	61					4.14922e-12	5.17332e-12	1	1	0	T	180804025	G	T	180804025	3	4	81	1	0	0	0	0	1	0	0	0	17511	971	34	4	1188	4	XPR1	1	180804025	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	23401	180804025	68446596	1215	4831											
KIAA1614	57710	broad.mit.edu	37	1	180907788	180907788	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:180907788G>T	ENST00000367588.4	+	6	2914	c.2859G>T	c.(2857-2859)aaG>aaT	p.K953N	KIAA1614_ENST00000367587.1_Missense_Mutation_p.K574N	NM_020950.1	NP_066001.1	Q5VZ46	K1614_HUMAN	KIAA1614	953	Ser-rich.									NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						AGTCCAGCAAGGAATCAGAGG	0.572													27	32					4.87955e-14	6.177e-14	1	1	0	T	180907788	G	T	180907788	3	4	81	1	0	0	0	0	1	0	0	0	8290	991	35	4	2881	4	KIAA1614	1	180907788	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	103763	180907788	68342833	1216	4832											
KIAA1614	57710	broad.mit.edu	37	1	180910420	180910420	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:180910420C>T	ENST00000367588.4	+	7	3213	c.3158C>T	c.(3157-3159)cCg>cTg	p.P1053L	KIAA1614_ENST00000367587.1_Splice_Site_p.P674L|KIAA1614_ENST00000461346.1_3'UTR	NM_020950.1	NP_066001.1	Q5VZ46	K1614_HUMAN	KIAA1614	1053	Ser-rich.									NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						TCCCTGCACCCGGTGAGTCCA	0.622													6	31					0	0	1	0	0	T	180910420	C	T	180910420	5	4	81	1	0	0	0	0	0	0	1	0	8290	666	23	1	3184	1	KIAA1614	1	180910420	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2632	180910420	68340201	1217	4833											
MR1	3140	broad.mit.edu	37	1	181018422	181018422	+	Missense_Mutation	SNP	G	G	A	rs145064363		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:181018422G>A	ENST00000367580.5	+	2	307	c.302G>A	c.(301-303)cGc>cAc	p.R101H	MR1_ENST00000282990.6_Missense_Mutation_p.R101H|MR1_ENST00000438435.2_3'UTR|MR1_ENST00000367579.3_Missense_Mutation_p.R101H|MR1_ENST00000434571.2_Missense_Mutation_p.R101H	NM_001531.2	NP_001522.1	Q95460	HMR1_HUMAN	major histocompatibility complex, class I-related	101	Alpha-1.|Ligand-binding.				antigen processing and presentation of peptide antigen via MHC class I|immune response	endoplasmic reticulum|extracellular region|integral to membrane|MHC class I protein complex	MHC class I receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	18						GAACTGAAGCGCCTACAGAGG	0.617													12	13					0	0	1	0	0	A	181018422	G	A	181018422	3	1	81	1	0	0	0	0	1	0	0	0	9801	1087	38	1	308	1	MR1	1	181018422	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	108002	181018422	68232199	1218	4834											
MR1	3140	broad.mit.edu	37	1	181019222	181019222	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:181019222C>T	ENST00000367580.5	+	3	409	c.404C>T	c.(403-405)gCa>gTa	p.A135V	MR1_ENST00000282990.6_Missense_Mutation_p.A135V|MR1_ENST00000438435.2_3'UTR|MR1_ENST00000367579.3_Intron|MR1_ENST00000434571.2_Missense_Mutation_p.A135V	NM_001531.2	NP_001522.1	Q95460	HMR1_HUMAN	major histocompatibility complex, class I-related	135	Alpha-2.|Ligand-binding.				antigen processing and presentation of peptide antigen via MHC class I|immune response	endoplasmic reticulum|extracellular region|integral to membrane|MHC class I protein complex	MHC class I receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	18						CTGCAGTATGCATATGACGGG	0.512													8	80					0	0	1	0	0	T	181019222	C	T	181019222	3	4	81	1	0	0	0	0	1	0	0	0	9801	710	25	2	414	2	MR1	1	181019222	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	800	181019222	68231399	1219	4835											
CACNA1E	777	broad.mit.edu	37	1	181705510	181705510	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:181705510G>A	ENST00000526775.1	+	21	3470	c.3305G>A	c.(3304-3306)cGt>cAt	p.R1102H	CACNA1E_ENST00000367573.2_Missense_Mutation_p.R1121H|CACNA1E_ENST00000357570.5_Missense_Mutation_p.R1072H|CACNA1E_ENST00000367567.4_Missense_Mutation_p.R728H|CACNA1E_ENST00000360108.3_Missense_Mutation_p.R1102H|CACNA1E_ENST00000358338.5_Missense_Mutation_p.R1053H|CACNA1E_ENST00000367570.1_Missense_Mutation_p.R1121H	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1121					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						aaggagaagCGTGAGACAGGC	0.547													3	13					0	0	1	0	0	A	181705510	G	A	181705510	3	1	81	1	0	0	0	0	1	0	0	0	2560	1145	40	1	3448	1	CACNA1E	1	181705510	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	686288	181705510	67545111	1220	4836											
GLUL	2752	broad.mit.edu	37	1	182353692	182353692	+	Missense_Mutation	SNP	G	G	A	rs80358214		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:182353692G>A	ENST00000311223.5	-	8	1866	c.970C>T	c.(970-972)Cgc>Tgc	p.R324C	GLUL_ENST00000331872.6_Missense_Mutation_p.R324C|GLUL_ENST00000339526.4_Missense_Mutation_p.R324C|GLUL_ENST00000417584.2_Missense_Mutation_p.R324C|GLUL_ENST00000491322.1_5'UTR	NM_002065.5	NP_002056.2	P15104	GLNA_HUMAN	glutamate-ammonia ligase	324			R -> C (in CSGD; reduced glutamine synthetase activity).		cell proliferation|glutamine biosynthetic process|neurotransmitter uptake	cytosol|Golgi apparatus|mitochondrion	ATP binding|glutamate decarboxylase activity|glutamate-ammonia ligase activity|identical protein binding			endometrium(2)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(1)	16					Asparaginase(DB00023)|L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)|L-Methionine(DB00134)	CGGGGAATGCGTATGCTGGCG	0.552													23	41					0	0	1	0	0	A	182353692	G	A	182353692	3	1	81	1	0	0	0	0	1	0	0	0	6520	1145	40	1	155	1	GLUL	1	182353692	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	648182	182353692	66896929	1221	4837											
TEDDM1	127670	broad.mit.edu	37	1	182369445	182369445	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:182369445A>G	ENST00000367565.1	-	1	306	c.176T>C	c.(175-177)gTg>gCg	p.V59A		NM_172000.3	NP_741997.3	Q5T9Z0	TEDM1_HUMAN	transmembrane epididymal protein 1	59						integral to membrane				haematopoietic_and_lymphoid_tissue(1)|lung(4)|ovary(2)	7						CCTTGATGGCACTTGCTTCCT	0.473													40	60					0	0	1	0	0	G	182369445	A	G	182369445	3	3	81	1	0	0	0	0	1	0	0	0	15808	159	6	3	649	3	TEDDM1	1	182369445	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	15753	182369445	66881176	1222	4838											
DHX9	1660	broad.mit.edu	37	1	182827295	182827295	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:182827295C>A	ENST00000367549.3	+	8	840	c.730C>A	c.(730-732)Ctg>Atg	p.L244M		NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 9	244	DRBM 2.|Interaction with BRCA1.|Interaction with CREBBP.				CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome	centrosome|CRD-mediated mRNA stability complex|nucleolus|nucleoplasm|ribonucleoprotein complex	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						GTCCTGTGCCCTGTCACTTGT	0.408													27	62					6.32553e-13	7.94418e-13	1	1	0	A	182827295	C	A	182827295	3	1	81	1	0	0	0	0	1	0	0	0	4544	680	24	4	756	4	DHX9	1	182827295	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	457850	182827295	66423326	1223	4839											
DHX9	1660	broad.mit.edu	37	1	182853875	182853875	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:182853875C>T	ENST00000367549.3	+	27	3498	c.3388C>T	c.(3388-3390)Cgt>Tgt	p.R1130C	DHX9_ENST00000485081.1_3'UTR	NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 9	1130					CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome	centrosome|CRD-mediated mRNA stability complex|nucleolus|nucleoplasm|ribonucleoprotein complex	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						CGTAAATGAACGTATGCTGAA	0.478													42	50					0	0	1	0	0	T	182853875	C	T	182853875	3	4	81	1	0	0	0	0	1	0	0	0	4544	536	19	1	3490	1	DHX9	1	182853875	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	26580	182853875	66396746	1224	4840											
LAMC1	3915	broad.mit.edu	37	1	183072602	183072602	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:183072602C>T	ENST00000258341.4	+	2	815	c.558C>T	c.(556-558)taC>taT	p.Y186Y		NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)	186	Laminin N-terminal.				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent			NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AGAACACCTACTCCAAGGCAA	0.567													7	84					0	0	1	0	0	T	183072602	C	T	183072602	2	4	81	1	0	0	0	0	0	0	0	1	8653	576	20	2		2	LAMC1	1	183072602	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	218727	183072602	66178019	1225	4841											
LAMC1	3915	broad.mit.edu	37	1	183087260	183087260	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:183087260C>T	ENST00000258341.4	+	11	2226	c.1969C>T	c.(1969-1971)Cgt>Tgt	p.R657C		NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)	657	Laminin IV type A.				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent			NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TATCAAGATACGTGGGACATA	0.383													32	50					0	0	1	0	0	T	183087260	C	T	183087260	3	4	81	1	0	0	0	0	1	0	0	0	8653	536	19	1	2011	1	LAMC1	1	183087260	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	14658	183087260	66163361	1226	4842											
LAMC1	3915	broad.mit.edu	37	1	183096535	183096535	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:183096535A>G	ENST00000258341.4	+	17	3376	c.3119A>G	c.(3118-3120)gAt>gGt	p.D1040G	LAMC1_ENST00000466964.1_3'UTR	NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)	1040	Domain II and I.				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent			NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CTGGTAAAGGATAAGGTAAGC	0.443													23	21					0	0	1	0	0	G	183096535	A	G	183096535	3	3	81	1	0	0	0	0	1	0	0	0	8653	333	12	3	3185	3	LAMC1	1	183096535	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	9275	183096535	66154086	1227	4843											
LAMC2	3918	broad.mit.edu	37	1	183204709	183204709	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:183204709G>A	ENST00000264144.4	+	16	2365		c.e16-1		LAMC2_ENST00000493293.1_Splice_Site	NM_005562.2	NP_005553.2	Q13753	LAMC2_HUMAN	laminin, gamma 2						cell adhesion|epidermis development|hemidesmosome assembly		heparin binding			breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						AATCCTTTCAGCCACGTTGAG	0.473											OREG0014042	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	26					0	0	1	0	0	A	183204709	G	A	183204709	5	1	81	1	0	0	0	0	0	0	1	0	8654	985	34	2	2362	2	LAMC2	1	183204709	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	108174	183204709	66045912	1228	4844											
LAMC2	3918	broad.mit.edu	37	1	183206503	183206503	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:183206503G>T	ENST00000264144.4	+	18	2683	c.2618G>T	c.(2617-2619)aGg>aTg	p.R873M	LAMC2_ENST00000493293.1_Missense_Mutation_p.R873M	NM_005562.2	NP_005553.2	Q13753	LAMC2_HUMAN	laminin, gamma 2	873	Domain II and I.				cell adhesion|epidermis development|hemidesmosome assembly		heparin binding			breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						GAAGCAAAGAGGATCAAACAA	0.468													13	15					0.000219431	0.000239308	1	1	0	T	183206503	G	T	183206503	3	4	81	1	0	0	0	0	1	0	0	0	8654	1000	35	4	2688	4	LAMC2	1	183206503	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1794	183206503	66044118	1229	4845											
NMNAT2	23057	broad.mit.edu	37	1	183273936	183273936	+	Translation_Start_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:183273936C>T	ENST00000294868.4	-	0	73				NMNAT2_ENST00000287713.6_Intron	NM_170706.3	NP_733820.1	Q9BZQ4	NMNA2_HUMAN	nicotinamide nucleotide adenylyltransferase 2						water-soluble vitamin metabolic process	Golgi membrane|nucleus	ATP binding|nicotinamide-nucleotide adenylyltransferase activity|nicotinate-nucleotide adenylyltransferase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(7)|skin(2)	18						GAGAGTAACACAAAGTGGTGC	0.488													4	40					0	0	1	0	0	T	183273936	C	T	183273936	1	4	81	1	0	0	0	0	0	0	0	0	10546	493	17	2		2	NMNAT2	1	183273936	Translation_Start_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	67433	183273936	65976685	1230	4846											
NCF2	4688	broad.mit.edu	37	1	183536117	183536117	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:183536117G>A	ENST00000413720.1	-	8	1001	c.727C>T	c.(727-729)Ctt>Ttt	p.L243F	NCF2_ENST00000418089.1_Missense_Mutation_p.L207F|NCF2_ENST00000367535.3_Missense_Mutation_p.L288F|NCF2_ENST00000367536.1_Missense_Mutation_p.L288F	NM_001190794.1	NP_001177723.1	P19878	NCF2_HUMAN	neutrophil cytosolic factor 2	288	SH3 1.				cellular defense response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex|nucleolus	electron carrier activity|protein C-terminus binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30						CAGGGAACAAGCCCCTTCTGC	0.537													4	44					0	0	1	0	0	A	183536117	G	A	183536117	3	1	81	1	0	0	0	0	1	0	0	0	10264	971	34	2	746	2	NCF2	1	183536117	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	262181	183536117	65714504	1231	4847											
NCF2	4688	broad.mit.edu	37	1	183538285	183538285	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:183538285C>A	ENST00000413720.1	-	6	844	c.570G>T	c.(568-570)gaG>gaT	p.E190D	NCF2_ENST00000418089.1_Missense_Mutation_p.E154D|NCF2_ENST00000367535.3_Missense_Mutation_p.E235D|NCF2_ENST00000367536.1_Missense_Mutation_p.E235D	NM_001190794.1	NP_001177723.1	P19878	NCF2_HUMAN	neutrophil cytosolic factor 2	235					cellular defense response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex|nucleolus	electron carrier activity|protein C-terminus binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30						ACCTGAAGATCTCTGGGGTTT	0.478													9	152					1.58986e-06	1.82794e-06	1	1	0	A	183538285	C	A	183538285	3	1	81	1	0	0	0	0	1	0	0	0	10264	912	32	4	911	4	NCF2	1	183538285	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2168	183538285	65712336	1232	4848											
EDEM3	80267	broad.mit.edu	37	1	184663407	184663407	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:184663407C>T	ENST00000318130.8	-	20	2855	c.2589G>A	c.(2587-2589)caG>caA	p.Q863Q	EDEM3_ENST00000367512.3_Silent_p.Q836Q	NM_025191.3	NP_079467.3	Q9BZQ6	EDEM3_HUMAN	ER degradation enhancer, mannosidase alpha-like 3	863					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						GATTAGAAGTCTGTTCAGAAG	0.373													5	59					0	0	1	0	0	T	184663407	C	T	184663407	2	4	81	1	0	0	0	0	0	0	0	1	4939	912	32	2		2	EDEM3	1	184663407	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1125122	184663407	64587214	1233	4849											
EDEM3	80267	broad.mit.edu	37	1	184688655	184688655	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:184688655A>G	ENST00000318130.8	-	10	1265	c.999T>C	c.(997-999)ctT>ctC	p.L333L	EDEM3_ENST00000367512.3_Silent_p.L290L	NM_025191.3	NP_079467.3	Q9BZQ6	EDEM3_HUMAN	ER degradation enhancer, mannosidase alpha-like 3	333					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						TATGCACATCAAGTAGAAGAG	0.408													35	27					0	0	1	0	0	G	184688655	A	G	184688655	2	3	81	1	0	0	0	0	0	0	0	1	4939	117	5	3		3	EDEM3	1	184688655	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	25248	184688655	64561966	1234	4850											
EDEM3	80267	broad.mit.edu	37	1	184723757	184723757	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:184723757G>T	ENST00000318130.8	-	1	290	c.24C>A	c.(22-24)ggC>ggA	p.G8G		NM_025191.3	NP_079467.3	Q9BZQ6	EDEM3_HUMAN	ER degradation enhancer, mannosidase alpha-like 3	8					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						GGGACCCACAGCCCCGGCCGC	0.751													3	5					6.4e-05	7.07494e-05	1	1	0	T	184723757	G	T	184723757	2	4	81	1	0	0	0	0	0	0	0	1	4939	958	34	4		4	EDEM3	1	184723757	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	35102	184723757	64526864	1235	4851											
FAM129A	116496	broad.mit.edu	37	1	184764288	184764288	+	Silent	SNP	G	G	A	rs150744246		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:184764288G>A	ENST00000367511.3	-	14	2803	c.2610C>T	c.(2608-2610)agC>agT	p.S870S	FAM129A_ENST00000487074.1_5'UTR	NM_052966.2	NP_443198.1	Q9BZQ8	NIBAN_HUMAN	family with sequence similarity 129, member A	870					negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						CCTGGGCCGCGCTGCTTTGCC	0.577													53	59					0	0	1	0	0	A	184764288	G	A	184764288	2	1	81	1	0	0	0	0	0	0	0	1	5467	1078	38	1		1	FAM129A	1	184764288	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	40531	184764288	64486333	1236	4852											
FAM129A	116496	broad.mit.edu	37	1	184772785	184772785	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:184772785A>G	ENST00000367511.3	-	12	1681	c.1488T>C	c.(1486-1488)ttT>ttC	p.F496F	FAM129A_ENST00000487074.1_5'UTR	NM_052966.2	NP_443198.1	Q9BZQ8	NIBAN_HUMAN	family with sequence similarity 129, member A	496					negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						GTGCCTCTTGAAATATCTTCT	0.398													5	109					0	0	1	0	0	G	184772785	A	G	184772785	2	3	81	1	0	0	0	0	0	0	0	1	5467	243	9	3		3	FAM129A	1	184772785	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	8497	184772785	64477836	1237	4853											
RNF2	6045	broad.mit.edu	37	1	185067296	185067296	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:185067296G>T	ENST00000367510.3	+	5	845	c.557G>T	c.(556-558)aGc>aTc	p.S186I	RNF2_ENST00000367509.4_Missense_Mutation_p.S114I	NM_007212.3	NP_009143.1	Q99496	RING2_HUMAN	ring finger protein 2	186					histone H2A monoubiquitination|transcription, DNA-dependent	MLL1 complex|PcG protein complex|ubiquitin ligase complex	RING-like zinc finger domain binding|zinc ion binding			breast(3)|endometrium(2)|large_intestine(4)|lung(3)|skin(2)	14		Breast(1374;0.000496)		Colorectal(1306;6.9e-08)|KIRC - Kidney renal clear cell carcinoma(1967;8.12e-06)		TCCACACATAGCAATCAGGAA	0.433													8	66					0.00307968	0.00324365	1	1	0	T	185067296	G	T	185067296	3	4	81	1	0	0	0	0	1	0	0	0	13524	971	34	4	571	4	RNF2	1	185067296	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	294511	185067296	64183325	1238	4854											
RNF2	6045	broad.mit.edu	37	1	185067376	185067376	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:185067376G>T	ENST00000367510.3	+	5	925	c.637G>T	c.(637-639)Gca>Tca	p.A213S	RNF2_ENST00000367509.4_Missense_Mutation_p.A141S	NM_007212.3	NP_009143.1	Q99496	RING2_HUMAN	ring finger protein 2	213					histone H2A monoubiquitination|transcription, DNA-dependent	MLL1 complex|PcG protein complex|ubiquitin ligase complex	RING-like zinc finger domain binding|zinc ion binding			breast(3)|endometrium(2)|large_intestine(4)|lung(3)|skin(2)	14		Breast(1374;0.000496)		Colorectal(1306;6.9e-08)|KIRC - Kidney renal clear cell carcinoma(1967;8.12e-06)		TAACAATGCAGCAATGGCAAT	0.428													45	45					8.01111e-26	1.06104e-25	1	1	0	T	185067376	G	T	185067376	3	4	81	1	0	0	0	0	1	0	0	0	13524	971	34	4	651	4	RNF2	1	185067376	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	80	185067376	64183245	1239	4855											
IVNS1ABP	10625	broad.mit.edu	37	1	185267195	185267195	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:185267195C>A	ENST00000367498.3	-	15	2523	c.1901G>T	c.(1900-1902)aGc>aTc	p.S634I	IVNS1ABP_ENST00000392007.3_Missense_Mutation_p.S416I|IVNS1ABP_ENST00000459929.1_5'UTR	NM_006469.4	NP_006460.2	Q9Y6Y0	NS1BP_HUMAN	influenza virus NS1A binding protein	634					interspecies interaction between organisms|response to virus|RNA splicing|transcription from RNA polymerase III promoter	cytoplasm|cytoskeleton|spliceosomal complex|transcription factor complex				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(4)|prostate(2)	29						TGTATAGGGGCTCCATTCATT	0.378													35	156					3.11337e-16	3.99083e-16	1	1	0	A	185267195	C	A	185267195	3	1	81	1	0	0	0	0	1	0	0	0	7974	797	28	4	31	4	IVNS1ABP	1	185267195	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	199819	185267195	63983426	1240	4856											
IVNS1ABP	10625	broad.mit.edu	37	1	185277969	185277969	+	Translation_Start_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:185277969G>T	ENST00000392007.3	-	0	550				IVNS1ABP_ENST00000459929.1_5'UTR|IVNS1ABP_ENST00000367497.1_Missense_Mutation_p.S107Y|IVNS1ABP_ENST00000367498.3_Missense_Mutation_p.S107Y			Q9Y6Y0	NS1BP_HUMAN	influenza virus NS1A binding protein						interspecies interaction between organisms|response to virus|RNA splicing|transcription from RNA polymerase III promoter	cytoplasm|cytoskeleton|spliceosomal complex|transcription factor complex				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(4)|prostate(2)	29						TTTTGCTGCAGAATAAACATC	0.294													5	120					0.000602214	0.000646338	1	1	0	T	185277969	G	T	185277969	1	4	81	1	0	0	0	0	0	0	0	0	7974	942	33	4		4	IVNS1ABP	1	185277969	Translation_Start_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	10774	185277969	63972652	1241	4857											
HMCN1	83872	broad.mit.edu	37	1	185959455	185959455	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:185959455C>A	ENST00000271588.4	+	22	3486	c.3257C>A	c.(3256-3258)cCt>cAt	p.P1086H	HMCN1_ENST00000485744.1_3'UTR|HMCN1_ENST00000367492.2_Missense_Mutation_p.P1086H	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	1086	Ig-like C2-type 8.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CAGGATAAGCCTGTTGAGATC	0.453													122	222					2.17066e-49	2.92195e-49	1	1	0	A	185959455	C	A	185959455	3	1	81	1	0	0	0	0	1	0	0	0	7261	681	24	4	3343	4	HMCN1	1	185959455	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	681486	185959455	63291166	1242	4858											
HMCN1	83872	broad.mit.edu	37	1	186031667	186031667	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:186031667delA	ENST00000271588.4	+	48	7677	c.7448delA	c.(7447-7449)gaafs	p.E2483fs	HMCN1_ENST00000367492.2_Frame_Shift_Del_p.E2483fs	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	2483	Ig-like C2-type 23.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						ATTGTGGGTGAAAATACATTG	0.378													34	60	---	---	---	---						-	186031667	A	-	186031667	7	5	81	1	0	1	0	1	0	0	0	0	7261	246	9	0	7638	0	HMCN1	1	186031667	Frame_Shift_Del	DEL	A	TCGA-DU-6392-01A-11D-1705-08	72212	186031667	63218954	1243	4859											
HMCN1	83872	broad.mit.edu	37	1	186045576	186045576	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:186045576G>T	ENST00000271588.4	+	54	8536	c.8307G>T	c.(8305-8307)caG>caT	p.Q2769H	HMCN1_ENST00000367492.2_Missense_Mutation_p.Q2769H	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	2769	Ig-like C2-type 26.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CAAGTTTTCAGAAACTCTGGG	0.383													11	28					2.80697e-09	3.37799e-09	1	1	0	T	186045576	G	T	186045576	3	4	81	1	0	0	0	0	1	0	0	0	7261	933	33	4	8521	4	HMCN1	1	186045576	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	13909	186045576	63205045	1244	4860											
HMCN1	83872	broad.mit.edu	37	1	186072761	186072761	+	Silent	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:186072761T>G	ENST00000271588.4	+	69	10960	c.10731T>G	c.(10729-10731)acT>acG	p.T3577T	HMCN1_ENST00000367492.2_Silent_p.T3577T	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	3577	Ig-like C2-type 34.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						AAGTGCAAACTCTAGGAGGAG	0.443													7	49					0	0	1	0	0	G	186072761	T	G	186072761	2	3	81	1	0	0	0	0	0	0	0	1	7261	1538	54	5		5	HMCN1	1	186072761	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	27185	186072761	63177860	1245	4861											
HMCN1	83872	broad.mit.edu	37	1	186114999	186114999	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:186114999G>A	ENST00000271588.4	+	93	14781	c.14552G>A	c.(14551-14553)cGt>cAt	p.R4851H	HMCN1_ENST00000367492.2_Missense_Mutation_p.R4851H	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	4851	TSP type-1 6.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						AAAGGTGGCCGTCCCTGTCCC	0.537													23	27					0	0	1	0	0	A	186114999	G	A	186114999	3	1	81	1	0	0	0	0	1	0	0	0	7261	1145	40	1	14922	1	HMCN1	1	186114999	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	42238	186114999	63135622	1246	4862											
HMCN1	83872	broad.mit.edu	37	1	186147631	186147631	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:186147631C>A	ENST00000271588.4	+	104	16256	c.16027C>A	c.(16027-16029)Cca>Aca	p.P5343T	HMCN1_ENST00000367492.2_Intron	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	5343	EGF-like 6; calcium-binding (Potential).				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TATCTGTCCACCAGGACAACA	0.478													24	189					9.57634e-11	1.17731e-10	1	1	0	A	186147631	C	A	186147631	3	1	81	1	0	0	0	0	1	0	0	0	7261	507	18	5	16441	5	HMCN1	1	186147631	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	32632	186147631	63102990	1247	4863											
TPR	7175	broad.mit.edu	37	1	186286670	186286670	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:186286670G>A	ENST00000367478.4	-	49	7180	c.6884C>T	c.(6883-6885)tCt>tTt	p.S2295F		NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein						carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity			autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		TGACTCATCAGATGCTTGAAC	0.438			T	NTRK1	papillary thyroid								19	36					0	0	1	0	0	A	186286670	G	A	186286670	3	1	81	1	0	0	0	0	1	0	0	0	16477	942	33	2	219	2	TPR	1	186286670	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	139039	186286670	62963951	1248	4864											
TPR	7175	broad.mit.edu	37	1	186292915	186292915	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:186292915G>A	ENST00000367478.4	-	43	6496	c.6200C>T	c.(6199-6201)gCc>gTc	p.A2067V		NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein						carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity			autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		TGCTCGAGGGGCCTGTCTTTC	0.517			T	NTRK1	papillary thyroid								46	88					0	0	1	0	0	A	186292915	G	A	186292915	3	1	81	1	0	0	0	0	1	0	0	0	16477	1203	42	2	927	2	TPR	1	186292915	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	6245	186292915	62957706	1249	4865											
TPR	7175	broad.mit.edu	37	1	186329083	186329083	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:186329083T>C	ENST00000367478.4	-	12	1533	c.1237A>G	c.(1237-1239)Aaa>Gaa	p.K413E	TPR_ENST00000474852.1_5'UTR	NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein						carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity			autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		TTCTCTAGTTTCTCCAAAAGC	0.363			T	NTRK1	papillary thyroid								24	41					0	0	1	0	0	C	186329083	T	C	186329083	3	2	81	1	0	0	0	0	1	0	0	0	16477	1792	62	3	6014	3	TPR	1	186329083	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	36168	186329083	62921538	1250	4866											
TPR	7175	broad.mit.edu	37	1	186329453	186329453	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:186329453A>G	ENST00000367478.4	-	11	1439	c.1143T>C	c.(1141-1143)acT>acC	p.T381T	TPR_ENST00000474852.1_5'UTR	NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein						carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity			autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		CAGCTGCTGCAGTAGGAGACA	0.368			T	NTRK1	papillary thyroid								4	55					0	0	1	0	0	G	186329453	A	G	186329453	2	3	81	1	0	0	0	0	0	0	0	1	16477	175	7	3		3	TPR	1	186329453	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	370	186329453	62921168	1251	4867											
TPR	7175	broad.mit.edu	37	1	186330775	186330775	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:186330775G>T	ENST00000367478.4	-	9	1233	c.937C>A	c.(937-939)Ctt>Att	p.L313I	TPR_ENST00000474852.1_5'UTR	NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein						carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity			autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		TCTTTCAAAAGTTTGTGTAGT	0.348			T	NTRK1	papillary thyroid								49	55					6.3237e-29	8.41612e-29	1	1	0	T	186330775	G	T	186330775	3	4	81	1	0	0	0	0	1	0	0	0	16477	1029	36	4	6326	4	TPR	1	186330775	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1322	186330775	62919846	1252	4868											
TPR	7175	broad.mit.edu	37	1	186332042	186332042	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:186332042A>C	ENST00000367478.4	-	6	919	c.623T>G	c.(622-624)cTt>cGt	p.L208R	TPR_ENST00000474852.1_5'UTR	NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein						carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity			autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		AAGAGCCAGAAGTTCATCAGT	0.328			T	NTRK1	papillary thyroid								24	24					0	0	1	0	0	C	186332042	A	C	186332042	3	2	81	1	0	0	0	0	1	0	0	0	16477	72	3	5	6652	5	TPR	1	186332042	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	1267	186332042	62918579	1253	4869											
C1orf27	54953	broad.mit.edu	37	1	186358749	186358749	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:186358749A>G	ENST00000367470.3	+	6	703	c.467A>G	c.(466-468)gAt>gGt	p.D156G	C1orf27_ENST00000419367.3_Missense_Mutation_p.D124G|C1orf27_ENST00000432021.3_Missense_Mutation_p.D156G|C1orf27_ENST00000287859.6_Missense_Mutation_p.D156G	NM_001164245.1	NP_001157717.1	Q5SWX8	ODR4_HUMAN	chromosome 1 open reading frame 27	156						integral to membrane	oxidoreductase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)	9						GATATCCATGATCCAAAGGTA	0.254													3	43					0	0	1	0	0	G	186358749	A	G	186358749	3	3	81	1	0	0	0	0	1	0	0	0	2050	333	12	3	485	3	C1orf27	1	186358749	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	26707	186358749	62891872	1254	4870											
PTGS2	5743	broad.mit.edu	37	1	186645975	186645976	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:186645975_186645976insT	ENST00000367468.5	-	6	848_849	c.712_713insA	c.(712-714)atgfs	p.M238fs	PTGS2_ENST00000490885.2_5'UTR	NM_000963.2	NP_000954.1	P35354	PGH2_HUMAN	prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)	238					cellular component movement|cyclooxygenase pathway|hormone biosynthetic process|positive regulation of brown fat cell differentiation|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of fever generation|positive regulation of fibroblast growth factor production|positive regulation of nitric oxide biosynthetic process|positive regulation of platelet-derived growth factor production|positive regulation of prostaglandin biosynthetic process|positive regulation of transforming growth factor-beta production|positive regulation vascular endothelial growth factor production|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|microsome|neuron projection|nucleus	enzyme binding|heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27					Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Carprofen(DB00821)|Celecoxib(DB00482)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Epoprostenol(DB01240)|Etodolac(DB00749)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Valdecoxib(DB00580)	CTGATATTTCATTTTTCCATCC	0.312													7	416	---	---	---	---						T	186645976	-	T	186645975	7	5	81	1	0	1	1	0	0	0	0	0	12806	217	8	0	1121	0	PTGS2	1	186645975	Frame_Shift_Ins	INS	-	TCGA-DU-6392-01A-11D-1705-08	287226	186645975	62604646	1255	4871											
RGS18	64407	broad.mit.edu	37	1	192127873	192127873	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:192127873G>A	ENST00000367460.3	+	1	287	c.106G>A	c.(106-108)Gaa>Aaa	p.E36K	RGS18_ENST00000481707.1_3'UTR	NM_130782.2	NP_570138.1	Q9NS28	RGS18_HUMAN	regulator of G-protein signaling 18	36					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity			kidney(1)|large_intestine(2)|lung(15)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						AACAAGCAAAGAAGCCAAAAT	0.274													11	38					0	0	1	0	0	A	192127873	G	A	192127873	3	1	81	1	0	0	0	0	1	0	0	0	13350	943	33	2	108	2	RGS18	1	192127873	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	5481898	192127873	57122748	1256	4872											
RGS18	64407	broad.mit.edu	37	1	192150425	192150425	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:192150425G>A	ENST00000367460.3	+	4	468	c.287G>A	c.(286-288)gGa>gAa	p.G96E		NM_130782.2	NP_570138.1	Q9NS28	RGS18_HUMAN	regulator of G-protein signaling 18	96	RGS.				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity			kidney(1)|large_intestine(2)|lung(15)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TTGATAGATGGACTAGAGGCT	0.269													26	27					0	0	1	0	0	A	192150425	G	A	192150425	3	1	81	1	0	0	0	0	1	0	0	0	13350	1174	41	2	301	2	RGS18	1	192150425	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	22552	192150425	57100196	1257	4873											
B3GALT2	8707	broad.mit.edu	37	1	193149591	193149591	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:193149591G>A	ENST00000367434.4	-	2	1857	c.1102C>T	c.(1102-1104)Cga>Tga	p.R368*	CDC73_ENST00000367435.3_Intron	NM_003783.3	NP_003774.1	O43825	B3GT2_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 2	368					protein glycosylation	Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)	16						TAAGAGACTCGCCAGTGATTG	0.423													20	69					0	0	1	0	0	A	193149591	G	A	193149591	4	1	81	1	0	0	0	0	0	1	0	0	1246	1095	38	1	170	1	B3GALT2	1	193149591	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	999166	193149591	56101030	1258	4874											
CDC73	79577	broad.mit.edu	37	1	193181591	193181591	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:193181591C>A	ENST00000367435.3	+	13	1322	c.1138C>A	c.(1138-1140)Ctt>Att	p.L380I		NM_024529.4	NP_078805.3	Q6P1J9	CDC73_HUMAN	cell division cycle 73	380					cell cycle|histone H2B ubiquitination|histone monoubiquitination|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(14)|ovary(1)|pancreas(1)|parathyroid(51)|skin(1)|upper_aerodigestive_tract(1)	87						TGCAAAAGACCTTCTACAGGA	0.328													9	207					2.17888e-05	2.43576e-05	1	1	0	A	193181591	C	A	193181591	3	1	81	1	0	0	0	0	1	0	0	0	3107	681	24	4	1188	4	CDC73	1	193181591	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	32000	193181591	56069030	1259	4875											
KCNT2	343450	broad.mit.edu	37	1	196274387	196274387	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:196274387G>A	ENST00000367433.5	-	21	2601	c.2500C>T	c.(2500-2502)Ctt>Ttt	p.L834F	KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000367431.4_Missense_Mutation_p.L784F|KCNT2_ENST00000451324.2_Intron|KCNT2_ENST00000294725.9_Missense_Mutation_p.L858F|KCNT2_ENST00000609185.1_Missense_Mutation_p.L784F	NM_198503.2	NP_940905.2	Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	858						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						GAAAGAGCAAGAGAGTAACAG	0.338													30	34					0	0	1	0	0	A	196274387	G	A	196274387	3	1	81	1	0	0	0	0	1	0	0	0	8136	942	33	2	863	2	KCNT2	1	196274387	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	3092796	196274387	52976234	1260	4876											
KCNT2	343450	broad.mit.edu	37	1	196288613	196288613	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:196288613C>T	ENST00000294725.9	-	20	3264		c.e20+1		KCNT2_ENST00000498426.1_Intron|KCNT2_ENST00000367433.5_Intron|KCNT2_ENST00000367431.4_Intron|KCNT2_ENST00000451324.2_Intron|KCNT2_ENST00000609185.1_Intron			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2							voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						TTGTCACCTACTTGTCAATAG	0.418													11	39					0	0	1	0	0	T	196288613	C	T	196288613	5	4	81	1	0	0	0	0	0	0	1	0	8136	579	20	2	1094	2	KCNT2	1	196288613	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	14226	196288613	52962008	1261	4877											
KCNT2	343450	broad.mit.edu	37	1	196300299	196300299	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:196300299A>G	ENST00000367433.5	-	18	2191	c.2090T>C	c.(2089-2091)tTa>tCa	p.L697S	KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000367431.4_Missense_Mutation_p.L647S|KCNT2_ENST00000451324.2_Missense_Mutation_p.L308S|KCNT2_ENST00000294725.9_Missense_Mutation_p.L697S|KCNT2_ENST00000609185.1_Missense_Mutation_p.L647S	NM_198503.2	NP_940905.2	Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	697						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						GTCTAATCTTAAGCAGCAAAA	0.294													12	215					0	0	1	0	0	G	196300299	A	G	196300299	3	3	81	1	0	0	0	0	1	0	0	0	8136	372	13	3	1361	3	KCNT2	1	196300299	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	11686	196300299	52950322	1262	4878											
KCNT2	343450	broad.mit.edu	37	1	196367748	196367748	+	Silent	SNP	A	A	G	rs12738104		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:196367748A>G	ENST00000367433.5	-	13	1340	c.1239T>C	c.(1237-1239)tgT>tgC	p.C413C	KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000367431.4_Silent_p.C413C|KCNT2_ENST00000451324.2_Silent_p.C24C|KCNT2_ENST00000294725.9_Silent_p.C413C|KCNT2_ENST00000609185.1_Silent_p.C413C	NM_198503.2	NP_940905.2	Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	413			C -> W (in dbSNP:rs12738104).			voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						CATACAAAGGACAATTTGGAG	0.323													31	38					0	0	1	0	0	G	196367748	A	G	196367748	2	3	81	1	0	0	0	0	0	0	0	1	8136	273	10	3		3	KCNT2	1	196367748	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	67449	196367748	52882873	1263	4879											
KCNT2	343450	broad.mit.edu	37	1	196451510	196451510	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:196451510C>A	ENST00000367433.5	-	4	377		c.e4-1		KCNT2_ENST00000367431.4_Splice_Site|KCNT2_ENST00000451324.2_Splice_Site|KCNT2_ENST00000294725.9_Splice_Site|KCNT2_ENST00000609185.1_Splice_Site	NM_198503.2	NP_940905.2	Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2							voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						GATATGAGACCTATAAAAAGA	0.269													4	15					0.00909568	0.00944708	1	1	0	A	196451510	C	A	196451510	5	1	81	1	0	0	0	0	0	0	1	0	8136	695	24	4	3232	4	KCNT2	1	196451510	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	83762	196451510	52799111	1264	4880											
CFH	3075	broad.mit.edu	37	1	196654269	196654269	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:196654269A>C	ENST00000367429.4	+	7	1106	c.866A>C	c.(865-867)gAa>gCa	p.E289A	CFH_ENST00000439155.2_Missense_Mutation_p.E289A|CFH_ENST00000359637.2_Missense_Mutation_p.E225A	NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	289	Sushi 5.				complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						ACTGGAGATGAAATCACGTAC	0.388													68	76					0	0	1	0	0	C	196654269	A	C	196654269	3	2	81	1	0	0	0	0	1	0	0	0	3305	246	9	5	892	5	CFH	1	196654269	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	202759	196654269	52596352	1265	4881											
CFH	3075	broad.mit.edu	37	1	196659244	196659244	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:196659244G>T	ENST00000367429.4	+	9	1451	c.1211G>T	c.(1210-1212)aGa>aTa	p.R404I	CFH_ENST00000439155.2_Missense_Mutation_p.R404I|CFH_ENST00000359637.2_Missense_Mutation_p.R340I	NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	404	Sushi 7.				complement activation, alternative pathway	extracellular space		p.R404I(1)		NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						AATCATGGAAGAAAGTTTGTA	0.353													6	28					5.9392e-07	6.87481e-07	1	1	0	T	196659244	G	T	196659244	3	4	81	1	0	0	0	0	1	0	0	0	3305	942	33	4	1245	4	CFH	1	196659244	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	4975	196659244	52591377	1266	4882											
CFH	3075	broad.mit.edu	37	1	196659281	196659281	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:196659281C>T	ENST00000367429.4	+	9	1488	c.1248C>T	c.(1246-1248)tgC>tgT	p.C416C	CFH_ENST00000439155.2_Silent_p.C416C|CFH_ENST00000359637.2_Silent_p.C352C	NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	416	Sushi 7.				complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						ACGTTGCCTGCCATCCTGGCT	0.413													29	25					0	0	1	0	0	T	196659281	C	T	196659281	2	4	81	1	0	0	0	0	0	0	0	1	3305	747	26	2		2	CFH	1	196659281	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	37	196659281	52591340	1267	4883											
CFHR4	10877	broad.mit.edu	37	1	196884207	196884207	+	Silent	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:196884207T>A	ENST00000367416.2	+	9	1613	c.1476T>A	c.(1474-1476)ctT>ctA	p.L492L	CFHR4_ENST00000367418.2_Silent_p.L246L|CFHR4_ENST00000251424.4_Silent_p.L246L|CFHR4_ENST00000608469.1_Silent_p.L116L|CFHR2_ENST00000367421.3_Intron	NM_001201550.2|NM_001201551.1	NP_001188479.1|NP_001188480.1			complement factor H-related 4											NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	36						ACTATGAACTTCAGGGTTCTA	0.413													20	170					0	0	1	0	0	A	196884207	T	A	196884207	2	1	81	1	0	0	0	0	0	0	0	1	3309	1770	62	5		5	CFHR4	1	196884207	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	224926	196884207	52366414	1268	4884											
CFHR4	10877	broad.mit.edu	37	1	196887380	196887380	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:196887380C>A	ENST00000367416.2	+	10	1715	c.1578C>A	c.(1576-1578)aaC>aaA	p.N526K	CFHR4_ENST00000367418.2_Missense_Mutation_p.N280K|CFHR4_ENST00000251424.4_Missense_Mutation_p.N280K|CFHR4_ENST00000608469.1_Missense_Mutation_p.N150K|CFHR2_ENST00000367421.3_Intron	NM_001201550.2|NM_001201551.1	NP_001188479.1|NP_001188480.1			complement factor H-related 4											NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	36						ATAAAAATAACATACAGTTAA	0.274													33	40					7.11191e-15	9.0478e-15	1	1	0	A	196887380	C	A	196887380	3	1	81	1	0	0	0	0	1	0	0	0	3309	477	17	5	862	5	CFHR4	1	196887380	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3173	196887380	52363241	1269	4885											
CFHR5	81494	broad.mit.edu	37	1	196952198	196952198	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:196952198C>T	ENST00000367414.5	+	2	370	c.314C>T	c.(313-315)cCg>cTg	p.P105L	CFHR5_ENST00000256785.4_Missense_Mutation_p.P81L	NM_030787.3	NP_110414.1	Q9BXR6	FHR5_HUMAN	complement factor H-related 5	81	Sushi 2.				complement activation, alternative pathway	extracellular region				NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						TCACCAACACCGAAGTGTCTC	0.403													6	66					0	0	1	0	0	T	196952198	C	T	196952198	3	4	81	1	0	0	0	0	1	0	0	0	3310	652	23	1	248	1	CFHR5	1	196952198	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	64818	196952198	52298423	1270	4886											
F13B	2165	broad.mit.edu	37	1	197021959	197021959	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:197021959A>G	ENST00000367412.1	-	9	1403	c.1360T>C	c.(1360-1362)Tgt>Cgt	p.C454R		NM_001994.2	NP_001985.2	P05160	F13B_HUMAN	coagulation factor XIII, B polypeptide	454	Sushi 8.				blood coagulation	extracellular region				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						TTAACAGTACATGGTTCTGTA	0.259													4	77					0	0	1	0	0	G	197021959	A	G	197021959	3	3	81	1	0	0	0	0	1	0	0	0	5369	217	8	3	641	3	F13B	1	197021959	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	69761	197021959	52228662	1271	4887											
ASPM	259266	broad.mit.edu	37	1	197059134	197059134	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:197059134G>A	ENST00000367409.4	-	25	10166	c.9910C>T	c.(9910-9912)Cga>Tga	p.R3304*	ASPM_ENST00000294732.7_Nonsense_Mutation_p.R1719*|ASPM_ENST00000367408.1_Nonsense_Mutation_p.R969*	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	3304					mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						TTACAACTTCGGATCAAAACA	0.343													30	55					0	0	1	0	0	A	197059134	G	A	197059134	4	1	81	1	0	0	0	0	0	1	0	0	1055	1124	39	1	539	1	ASPM	1	197059134	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	37175	197059134	52191487	1272	4888											
ASPM	259266	broad.mit.edu	37	1	197071586	197071586	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:197071586G>A	ENST00000367409.4	-	18	7051	c.6795C>T	c.(6793-6795)gcC>gcT	p.A2265A	ASPM_ENST00000294732.7_Intron|ASPM_ENST00000367408.1_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	2265	IQ 20.|IQ 21.				mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						TGAGAGTTGCGGCTATATGCA	0.348													48	112					0	0	1	0	0	A	197071586	G	A	197071586	2	1	81	1	0	0	0	0	0	0	0	1	1055	1103	39	1		1	ASPM	1	197071586	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	12452	197071586	52179035	1273	4889											
ASPM	259266	broad.mit.edu	37	1	197072572	197072572	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:197072572C>A	ENST00000367409.4	-	18	6065	c.5809G>T	c.(5809-5811)Gga>Tga	p.G1937*	ASPM_ENST00000294732.7_Intron|ASPM_ENST00000367408.1_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	1937					mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						TGCTTCCTTCCTGCAGTCCAT	0.428													15	219					1.67942e-08	2.00033e-08	1	1	0	A	197072572	C	A	197072572	4	1	81	1	0	0	0	0	0	1	0	0	1055	690	24	4	4668	4	ASPM	1	197072572	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	986	197072572	52178049	1274	4890											
ASPM	259266	broad.mit.edu	37	1	197073511	197073511	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:197073511T>C	ENST00000367409.4	-	18	5126	c.4870A>G	c.(4870-4872)Aaa>Gaa	p.K1624E	ASPM_ENST00000294732.7_Intron|ASPM_ENST00000367408.1_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	1624					mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						GCTAGAACTTTCATGGCAAAA	0.393													14	107					0	0	1	0	0	C	197073511	T	C	197073511	3	2	81	1	0	0	0	0	1	0	0	0	1055	1792	62	3	5607	3	ASPM	1	197073511	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	939	197073511	52177110	1275	4891											
ASPM	259266	broad.mit.edu	37	1	197074288	197074288	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:197074288G>A	ENST00000367409.4	-	18	4349	c.4093C>T	c.(4093-4095)Caa>Taa	p.Q1365*	ASPM_ENST00000294732.7_Intron|ASPM_ENST00000367408.1_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	1365	IQ 1.				mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						AGAAATCTTTGTCTAGTGGAA	0.303													39	40					0	0	1	0	0	A	197074288	G	A	197074288	4	1	81	1	0	0	0	0	0	1	0	0	1055	1386	48	2	6384	2	ASPM	1	197074288	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	777	197074288	52176333	1276	4892											
ASPM	259266	broad.mit.edu	37	1	197094253	197094253	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:197094253C>T	ENST00000367409.4	-	11	3261	c.3005G>A	c.(3004-3006)cGt>cAt	p.R1002H	ASPM_ENST00000294732.7_Missense_Mutation_p.R1002H|ASPM_ENST00000367408.1_Missense_Mutation_p.R252H	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	1002	CH 1.				mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						CTTTTGAAGACGACTTATTGC	0.378													14	73					0	0	1	0	0	T	197094253	C	T	197094253	3	4	81	1	0	0	0	0	1	0	0	0	1055	536	19	1	7500	1	ASPM	1	197094253	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	19965	197094253	52156368	1277	4893											
ASPM	259266	broad.mit.edu	37	1	197112714	197112714	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:197112714G>T	ENST00000367409.4	-	3	924	c.668C>A	c.(667-669)cCt>cAt	p.P223H	ASPM_ENST00000294732.7_Missense_Mutation_p.P223H	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	223					mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						AGGGCTAATAGGTGATATGGG	0.413													5	102					8.12818e-05	8.94031e-05	1	1	0	T	197112714	G	T	197112714	3	4	81	1	0	0	0	0	1	0	0	0	1055	1000	35	4	9869	4	ASPM	1	197112714	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	18461	197112714	52137907	1278	4894											
ZBTB41	360023	broad.mit.edu	37	1	197157461	197157461	+	Missense_Mutation	SNP	G	G	A	rs146939360	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:197157461G>A	ENST00000367405.4	-	4	1575	c.1507C>T	c.(1507-1509)Cgg>Tgg	p.R503W	ZBTB41_ENST00000467322.1_5'UTR	NM_194314.2	NP_919290.2	Q5SVQ8	ZBT41_HUMAN	zinc finger and BTB domain containing 41	503					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(11)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	40						CGAGCAAACCGTGATTTAAAA	0.348													32	63					0	0	1	0	0	A	197157461	G	A	197157461	3	1	81	1	0	0	0	0	1	0	0	0	17602	1144	40	1	1250	1	ZBTB41	1	197157461	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	44747	197157461	52093160	1279	4895											
ZBTB41	360023	broad.mit.edu	37	1	197169499	197169499	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:197169499G>T	ENST00000367405.4	-	1	173	c.105C>A	c.(103-105)acC>acA	p.T35T	ZBTB41_ENST00000467322.1_5'UTR	NM_194314.2	NP_919290.2	Q5SVQ8	ZBT41_HUMAN	zinc finger and BTB domain containing 41	35					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(11)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	40						AATGAGTATAGGTCACTTGGT	0.423													6	109					2.7689e-08	3.2887e-08	1	1	0	T	197169499	G	T	197169499	2	4	81	1	0	0	0	0	0	0	0	1	17602	987	35	4		4	ZBTB41	1	197169499	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	12038	197169499	52081122	1280	4896											
CRB1	23418	broad.mit.edu	37	1	197325986	197325986	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:197325986C>T	ENST00000367400.3	+	5	1149	c.1014C>T	c.(1012-1014)atC>atT	p.I338I	CRB1_ENST00000535699.1_Silent_p.I269I|CRB1_ENST00000538660.1_Silent_p.I338I|CRB1_ENST00000543483.1_Silent_p.I37I|CRB1_ENST00000367399.2_Silent_p.I226I	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	338					cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						AGTGTGAGATCGACCTCAATG	0.458													5	35					0	0	1	0	0	T	197325986	C	T	197325986	2	4	81	1	0	0	0	0	0	0	0	1	3871	874	31	1		1	CRB1	1	197325986	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	156487	197325986	51924635	1281	4897											
CRB1	23418	broad.mit.edu	37	1	197326118	197326118	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:197326118C>A	ENST00000367400.3	+	5	1281	c.1146C>A	c.(1144-1146)gtC>gtA	p.V382V	CRB1_ENST00000535699.1_Silent_p.V313V|CRB1_ENST00000538660.1_Silent_p.V382V|CRB1_ENST00000543483.1_Silent_p.V81V|CRB1_ENST00000367399.2_Silent_p.V270V	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	382	EGF-like 9.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						CAGGTTATGTCTGTATCTGTC	0.468													10	62					2.80697e-09	3.37799e-09	1	1	0	A	197326118	C	A	197326118	2	1	81	1	0	0	0	0	0	0	0	1	3871	900	32	4		4	CRB1	1	197326118	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	132	197326118	51924503	1282	4898											
CRB1	23418	broad.mit.edu	37	1	197404300	197404300	+	Missense_Mutation	SNP	G	G	A	rs62636275		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:197404300G>A	ENST00000367397.1	+	5	2308	c.1450G>A	c.(1450-1452)Gga>Aga	p.G484R	CRB1_ENST00000535699.1_Missense_Mutation_p.G1079R|CRB1_ENST00000538660.1_Intron|CRB1_ENST00000544212.1_Missense_Mutation_p.G584R|CRB1_ENST00000367400.3_Missense_Mutation_p.G1103R|CRB1_ENST00000367399.2_Missense_Mutation_p.G991R			P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	1103					cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding	p.G1103R(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						AATAGAAATCGGAGGCATTTA	0.368													35	51					0	0	1	0	0	A	197404300	G	A	197404300	3	1	81	1	0	0	0	0	1	0	0	0	3871	1117	39	1	3341	1	CRB1	1	197404300	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	78182	197404300	51846321	1283	4899											
PTPRC	5788	broad.mit.edu	37	1	198676000	198676000	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:198676000G>A	ENST00000367376.2	+	9	988	c.817G>A	c.(817-819)Gaa>Aaa	p.E273K	PTPRC_ENST00000348564.6_Missense_Mutation_p.E114K|PTPRC_ENST00000594404.1_Missense_Mutation_p.E112K|PTPRC_ENST00000352140.3_Missense_Mutation_p.E225K|PTPRC_ENST00000442510.2_Missense_Mutation_p.E275K	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	273					axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	p.E273*(1)		breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						TAACCTTACAGAATGTAAAAA	0.318													51	60					0	0	1	0	0	A	198676000	G	A	198676000	3	1	81	1	0	0	0	0	1	0	0	0	12849	943	33	2	858	2	PTPRC	1	198676000	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1271700	198676000	50574621	1284	4900											
ZNF281	23528	broad.mit.edu	37	1	200376235	200376235	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:200376235C>T	ENST00000294740.3	-	2	2723	c.2599G>A	c.(2599-2601)Gat>Aat	p.D867N	ZNF281_ENST00000367352.3_Missense_Mutation_p.D831N|ZNF281_ENST00000367353.1_Missense_Mutation_p.D867N	NM_001281293.1|NM_001281294.1|NM_012482.4	NP_001268222.1|NP_001268223.1|NP_036614.1	Q9Y2X9	ZN281_HUMAN	zinc finger protein 281						negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			breast(4)|endometrium(3)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	27						CCTGAGAAATCTGACACTGAA	0.443													45	90					0	0	1	0	0	T	200376235	C	T	200376235	3	4	81	1	0	0	0	0	1	0	0	0	17876	913	32	2	92	2	ZNF281	1	200376235	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1700235	200376235	48874386	1285	4901											
ZNF281	23528	broad.mit.edu	37	1	200376255	200376255	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:200376255C>A	ENST00000294740.3	-	2	2703	c.2579G>T	c.(2578-2580)aGa>aTa	p.R860I	ZNF281_ENST00000367352.3_Missense_Mutation_p.R824I|ZNF281_ENST00000367353.1_Missense_Mutation_p.R860I	NM_001281293.1|NM_001281294.1|NM_012482.4	NP_001268222.1|NP_001268223.1|NP_036614.1	Q9Y2X9	ZN281_HUMAN	zinc finger protein 281						negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			breast(4)|endometrium(3)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	27						AGTCCTTACTCTATGGTCCAC	0.438													5	127					0.014758	0.0152304	1	1	0	A	200376255	C	A	200376255	3	1	81	1	0	0	0	0	1	0	0	0	17876	913	32	4	112	4	ZNF281	1	200376255	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	20	200376255	48874366	1286	4902											
ZNF281	23528	broad.mit.edu	37	1	200377356	200377356	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:200377356T>G	ENST00000294740.3	-	2	1602	c.1478A>C	c.(1477-1479)aAa>aCa	p.K493T	ZNF281_ENST00000367352.3_Missense_Mutation_p.K457T|ZNF281_ENST00000367353.1_Missense_Mutation_p.K493T	NM_001281293.1|NM_001281294.1|NM_012482.4	NP_001268222.1|NP_001268223.1|NP_036614.1	Q9Y2X9	ZN281_HUMAN	zinc finger protein 281						negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			breast(4)|endometrium(3)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	27						AGACAAGGATTTCTGTCCTAC	0.393													5	93					0	0	1	0	0	G	200377356	T	G	200377356	3	3	81	1	0	0	0	0	1	0	0	0	17876	1841	64	5	1213	5	ZNF281	1	200377356	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	1101	200377356	48873265	1287	4903											
ZNF281	23528	broad.mit.edu	37	1	200377831	200377831	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:200377831G>C	ENST00000294740.3	-	2	1127	c.1003C>G	c.(1003-1005)Cac>Gac	p.H335D	ZNF281_ENST00000367352.3_Missense_Mutation_p.H299D|ZNF281_ENST00000367353.1_Missense_Mutation_p.H335D	NM_001281293.1|NM_001281294.1|NM_012482.4	NP_001268222.1|NP_001268223.1|NP_036614.1	Q9Y2X9	ZN281_HUMAN	zinc finger protein 281						negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			breast(4)|endometrium(3)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	27						GTCCTCTTGTGTCTCTCCATA	0.408													21	291					0	0	1	0	0	C	200377831	G	C	200377831	3	2	81	1	0	0	0	0	1	0	0	0	17876	1377	48	5	1688	5	ZNF281	1	200377831	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	475	200377831	48872790	1288	4904											
C1orf106	55765	broad.mit.edu	37	1	200869240	200869240	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:200869240G>A	ENST00000367342.4	+	4	644	c.444G>A	c.(442-444)acG>acA	p.T148T	C1orf106_ENST00000413687.2_Silent_p.T63T	NM_018265.3	NP_060735.3	Q3KP66	CA106_HUMAN	chromosome 1 open reading frame 106	148										endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(2)	21						AGGAGCTGACGGGCACCTTGC	0.622													7	10					0	0	1	0	0	A	200869240	G	A	200869240	2	1	81	1	0	0	0	0	0	0	0	1	1993	1103	39	1		1	C1orf106	1	200869240	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	491409	200869240	48381381	1289	4905											
C1orf106	55765	broad.mit.edu	37	1	200877871	200877871	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:200877871G>A	ENST00000367342.4	+	7	1043	c.843G>A	c.(841-843)gtG>gtA	p.V281V	C1orf106_ENST00000413687.2_Silent_p.V196V	NM_018265.3	NP_060735.3	Q3KP66	CA106_HUMAN	chromosome 1 open reading frame 106	281										endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(2)	21						AATCCCAAGTGCCAAAACCTC	0.607													15	161					0	0	1	0	0	A	200877871	G	A	200877871	2	1	81	1	0	0	0	0	0	0	0	1	1993	1306	46	2		2	C1orf106	1	200877871	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	8631	200877871	48372750	1290	4906											
KIF21B	23046	broad.mit.edu	37	1	200943316	200943316	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:200943316G>A	ENST00000332129.2	-	34	5098	c.4782C>T	c.(4780-4782)tgC>tgT	p.C1594C	KIF21B_ENST00000422435.2_Silent_p.C1607C|KIF21B_ENST00000360529.5_Intron|KIF21B_ENST00000461742.2_Intron	NM_001252102.1|NM_001252103.1|NM_017596.3	NP_001239031.1|NP_001239032.1|NP_060066.2	O75037	KI21B_HUMAN	kinesin family member 21B	1607					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						ACTTTACCCGGCAGTCACTGT	0.612													7	42					0	0	1	0	0	A	200943316	G	A	200943316	2	1	81	1	0	0	0	0	0	0	0	1	8331	1195	42	2		2	KIF21B	1	200943316	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	65445	200943316	48307305	1291	4907											
KIF21B	23046	broad.mit.edu	37	1	200948844	200948844	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:200948844C>T	ENST00000332129.2	-	29	4257		c.e29-1		KIF21B_ENST00000422435.2_Splice_Site|KIF21B_ENST00000360529.5_Splice_Site|KIF21B_ENST00000461742.2_Splice_Site	NM_001252102.1|NM_001252103.1|NM_017596.3	NP_001239031.1|NP_001239032.1|NP_060066.2	O75037	KI21B_HUMAN	kinesin family member 21B						microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						CAGCTTCGGTCTGTGAGAGAT	0.597											OREG0014066	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	79	96					0	0	1	0	0	T	200948844	C	T	200948844	5	4	81	1	0	0	0	0	0	0	1	0	8331	927	32	2	958	2	KIF21B	1	200948844	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	5528	200948844	48301777	1292	4908											
KIF21B	23046	broad.mit.edu	37	1	200956013	200956013	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:200956013C>T	ENST00000332129.2	-	26	3964	c.3648G>A	c.(3646-3648)ccG>ccA	p.P1216P	KIF21B_ENST00000422435.2_Silent_p.P1216P|KIF21B_ENST00000360529.5_Silent_p.P1216P|KIF21B_ENST00000461742.2_Silent_p.P1216P	NM_001252102.1|NM_001252103.1|NM_017596.3	NP_001239031.1|NP_001239032.1|NP_060066.2	O75037	KI21B_HUMAN	kinesin family member 21B	1216					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						TTCTCGTCAGCGGGGACGTCT	0.547													30	28					0	0	1	0	0	T	200956013	C	T	200956013	2	4	81	1	0	0	0	0	0	0	0	1	8331	755	27	1		1	KIF21B	1	200956013	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	7169	200956013	48294608	1293	4909											
CACNA1S	779	broad.mit.edu	37	1	201018173	201018173	+	Silent	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:201018173A>T	ENST00000362061.3	-	35	4522	c.4296T>A	c.(4294-4296)ccT>ccA	p.P1432P	CACNA1S_ENST00000367338.3_Silent_p.P1413P	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	1432					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity	p.P1432P(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	CAAAGCCCAGAGGGGGCTGAA	0.597													8	12					0	0	1	0	0	T	201018173	A	T	201018173	2	4	81	1	0	0	0	0	0	0	0	1	2565	291	11	5		5	CACNA1S	1	201018173	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	62160	201018173	48232448	1294	4910											
CACNA1S	779	broad.mit.edu	37	1	201029852	201029852	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:201029852G>T	ENST00000362061.3	-	26	3574	c.3348C>A	c.(3346-3348)acC>acA	p.T1116T	CACNA1S_ENST00000367338.3_Silent_p.T1116T	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	1116					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	AGTAGGAGGAGGTGACAATGT	0.517													86	193					5.2429e-30	6.98848e-30	1	1	0	T	201029852	G	T	201029852	2	4	81	1	0	0	0	0	0	0	0	1	2565	987	35	4		4	CACNA1S	1	201029852	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	11679	201029852	48220769	1295	4911											
CACNA1S	779	broad.mit.edu	37	1	201052448	201052448	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:201052448C>T	ENST00000362061.3	-	10	1461	c.1235G>A	c.(1234-1236)cGa>cAa	p.R412Q	CACNA1S_ENST00000367338.3_Missense_Mutation_p.R412Q	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	412					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	CCTCCAATGTCGGCTGAGGGA	0.547													44	53					0	0	1	0	0	T	201052448	C	T	201052448	3	4	81	1	0	0	0	0	1	0	0	0	2565	884	31	1	4526	1	CACNA1S	1	201052448	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	22596	201052448	48198173	1296	4912											
IGFN1	91156	broad.mit.edu	37	1	201183408	201183408	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:201183408C>A	ENST00000335211.4	+	13	8962	c.8832C>A	c.(8830-8832)acC>acA	p.T2944T	IGFN1_ENST00000295591.8_Silent_p.T104T|IGFN1_ENST00000451870.2_Silent_p.T487T	NM_001164586.1	NP_001158058.1			immunoglobulin-like and fibronectin type III domain containing 1											autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						GACCTGGCACCTGGTTTAAGG	0.612													5	48					0.00198382	0.00209725	1	1	0	A	201183408	C	A	201183408	2	1	81	1	0	0	0	0	0	0	0	1	7634	668	24	4		4	IGFN1	1	201183408	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	130960	201183408	48067213	1297	4913											
IGFN1	91156	broad.mit.edu	37	1	201187676	201187676	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:201187676C>T	ENST00000335211.4	+	18	9918	c.9788C>T	c.(9787-9789)gCg>gTg	p.A3263V	IGFN1_ENST00000295591.8_Missense_Mutation_p.A423V	NM_001164586.1	NP_001158058.1			immunoglobulin-like and fibronectin type III domain containing 1											autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						TGGACGGTGGCGGACGTGCGG	0.622													14	16					0	0	1	0	0	T	201187676	C	T	201187676	3	4	81	1	0	0	0	0	1	0	0	0	7634	768	27	1	9854	1	IGFN1	1	201187676	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	4268	201187676	48062945	1298	4914											
IGFN1	91156	broad.mit.edu	37	1	201193940	201193940	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:201193940C>T	ENST00000335211.4	+	21	10554	c.10424C>T	c.(10423-10425)aCt>aTt	p.T3475I	IGFN1_ENST00000295591.8_Intron	NM_001164586.1	NP_001158058.1			immunoglobulin-like and fibronectin type III domain containing 1											autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						GGTCTCTACACTGTGGTGCTG	0.597													19	9					0	0	1	0	0	T	201193940	C	T	201193940	3	4	81	1	0	0	0	0	1	0	0	0	7634	565	20	2	10502	2	IGFN1	1	201193940	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	6264	201193940	48056681	1299	4915											
IGFN1	91156	broad.mit.edu	37	1	201196086	201196086	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:201196086G>A	ENST00000335211.4	+	23	10993	c.10863G>A	c.(10861-10863)cgG>cgA	p.R3621R	IGFN1_ENST00000295591.8_3'UTR	NM_001164586.1	NP_001158058.1			immunoglobulin-like and fibronectin type III domain containing 1											autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						TGGGCCTGCGGTCCCACCTGC	0.677													56	55					0	0	1	0	0	A	201196086	G	A	201196086	2	1	81	1	0	0	0	0	0	0	0	1	7634	1248	44	2		2	IGFN1	1	201196086	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2146	201196086	48054535	1300	4916											
PKP1	5317	broad.mit.edu	37	1	201292216	201292216	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:201292216G>A	ENST00000263946.3	+	10	1893	c.1642G>A	c.(1642-1644)Gcc>Acc	p.A548T	PKP1_ENST00000352845.3_Missense_Mutation_p.A548T|PKP1_ENST00000367324.3_Missense_Mutation_p.A527T	NM_000299.3	NP_000290.2	Q13835	PKP1_HUMAN	plakophilin 1 (ectodermal dysplasia/skin fragility syndrome)	548					cell adhesion|cellular component disassembly involved in apoptosis|multicellular organismal development	desmosome|intermediate filament|nucleus	intermediate filament binding|signal transducer activity|structural constituent of epidermis			NS(2)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(5)|prostate(1)	22						CCATTCAGATGCCATCCGCAC	0.582													43	103					0	0	1	0	0	A	201292216	G	A	201292216	3	1	81	1	0	0	0	0	1	0	0	0	12032	1319	46	2	1680	2	PKP1	1	201292216	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	96130	201292216	47958405	1301	4917											
LAD1	3898	broad.mit.edu	37	1	201352498	201352498	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:201352498C>T	ENST00000391967.2	-	6	1496	c.1195G>A	c.(1195-1197)Gac>Aac	p.D399N	LAD1_ENST00000367313.3_Missense_Mutation_p.D413N|LAD1_ENST00000488842.1_5'UTR	NM_005558.3	NP_005549.2	O00515	LAD1_HUMAN	ladinin 1	399						basement membrane	structural molecule activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|prostate(2)|skin(2)	19						ACTGTGTTGTCTGGGAGCTTC	0.617													54	62					0	0	1	0	0	T	201352498	C	T	201352498	3	4	81	1	0	0	0	0	1	0	0	0	8638	913	32	2	378	2	LAD1	1	201352498	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	60282	201352498	47898123	1302	4918											
IPO9	55705	broad.mit.edu	37	1	201821264	201821264	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:201821264C>T	ENST00000361565.4	+	5	616	c.547C>T	c.(547-549)Cca>Tca	p.P183S	IPO9_ENST00000464348.1_3'UTR	NM_018085.4	NP_060555.2	Q96P70	IPO9_HUMAN	importin 9	183					protein import into nucleus	cytoplasm|nucleus	histone binding|protein transporter activity			cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	38						CACACAGATGCCACTTGTTGC	0.363													10	48					0	0	1	0	0	T	201821264	C	T	201821264	3	4	81	1	0	0	0	0	1	0	0	0	7843	739	26	2	565	2	IPO9	1	201821264	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	468766	201821264	47429357	1303	4919											
IPO9	55705	broad.mit.edu	37	1	201828116	201828116	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:201828116C>A	ENST00000361565.4	+	13	1531	c.1462C>A	c.(1462-1464)Ctc>Atc	p.L488I		NM_018085.4	NP_060555.2	Q96P70	IPO9_HUMAN	importin 9	488					protein import into nucleus	cytoplasm|nucleus	histone binding|protein transporter activity			cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	38						AGACCTCAACCTCTCAGGTAT	0.468													7	39					8.12818e-05	8.94031e-05	1	1	0	A	201828116	C	A	201828116	3	1	81	1	0	0	0	0	1	0	0	0	7843	681	24	4	1512	4	IPO9	1	201828116	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	6852	201828116	47422505	1304	4920											
IPO9	55705	broad.mit.edu	37	1	201838754	201838754	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:201838754A>G	ENST00000361565.4	+	17	2110	c.2041A>G	c.(2041-2043)Aca>Gca	p.T681A		NM_018085.4	NP_060555.2	Q96P70	IPO9_HUMAN	importin 9	681					protein import into nucleus	cytoplasm|nucleus	histone binding|protein transporter activity			cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	38						AGTACGAAATACAAAGCCTCC	0.483													38	39					0	0	1	0	0	G	201838754	A	G	201838754	3	3	81	1	0	0	0	0	1	0	0	0	7843	391	14	3	2107	3	IPO9	1	201838754	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	10638	201838754	47411867	1305	4921											
RNPEP	6051	broad.mit.edu	37	1	201970880	201970880	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:201970880G>T	ENST00000295640.4	+	8	1454	c.1411G>T	c.(1411-1413)Gtg>Ttg	p.V471L	RNPEP_ENST00000471105.1_3'UTR|RP11-465N4.4_ENST00000419190.1_RNA|RNPEP_ENST00000367286.3_Missense_Mutation_p.V432L	NM_020216.3	NP_064601.3	Q9H4A4	AMPB_HUMAN	arginyl aminopeptidase (aminopeptidase B)	471					leukotriene biosynthetic process		epoxide hydrolase activity|zinc ion binding			breast(1)|endometrium(4)|large_intestine(4)|lung(6)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21				KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|Colorectal(1306;0.005)		GAAAAAGAGAGTGGATATCAT	0.433													55	64					5.57489e-27	7.39727e-27	1	1	0	T	201970880	G	T	201970880	3	4	81	1	0	0	0	0	1	0	0	0	13561	1029	36	4	1441	4	RNPEP	1	201970880	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	132126	201970880	47279741	1306	4922											
PTPN7	5778	broad.mit.edu	37	1	202128442	202128442	+	Translation_Start_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:202128442G>A	ENST00000543735.1	-	0	211				PTPN7_ENST00000308986.5_Missense_Mutation_p.T30M|PTPN7_ENST00000367279.4_Missense_Mutation_p.T69M|PTPN7_ENST00000544762.1_De_novo_Start_OutOfFrame|PTPN7_ENST00000309017.3_Missense_Mutation_p.T135M			P35236	PTN7_HUMAN	protein tyrosine phosphatase, non-receptor type 7							cytosol|internal side of plasma membrane	protein binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1)|soft_tissue(1)|urinary_tract(1)	13						CTTGGCTGGCGTTTTTTCAGG	0.637													26	28					0	0	1	0	0	A	202128442	G	A	202128442	1	1	81	1	0	0	0	0	0	0	0	0	12845	1145	40	1		1	PTPN7	1	202128442	Translation_Start_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	157562	202128442	47122179	1307	4923											
LGR6	59352	broad.mit.edu	37	1	202245467	202245467	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:202245467G>A	ENST00000367278.3	+	5	551	c.462G>A	c.(460-462)ccG>ccA	p.P154P	LGR6_ENST00000308543.3_3'UTR|LGR6_ENST00000255432.7_Silent_p.P102P|LGR6_ENST00000439764.2_Intron	NM_001017403.1	NP_001017403.1	Q9HBX8	LGR6_HUMAN	leucine-rich repeat containing G protein-coupled receptor 6	154						integral to membrane|plasma membrane	protein-hormone receptor activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						CCCTGGTCCCGGAGAGGAGCT	0.617													29	54					0	0	1	0	0	A	202245467	G	A	202245467	2	1	81	1	0	0	0	0	0	0	0	1	8798	1103	39	1		1	LGR6	1	202245467	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	117025	202245467	47005154	1308	4924											
KDM5B	10765	broad.mit.edu	37	1	202718086	202718086	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:202718086G>T	ENST00000367265.3	-	14	3167	c.2003C>A	c.(2002-2004)aCt>aAt	p.T668N	KDM5B_ENST00000367264.2_Missense_Mutation_p.T704N	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B	668					negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						TTTACGGACAGTTTCTCTTAA	0.358													46	46					4.10826e-27	5.45241e-27	1	1	0	T	202718086	G	T	202718086	3	4	81	1	0	0	0	0	1	0	0	0	8177	1029	36	4	2687	4	KDM5B	1	202718086	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	472619	202718086	46532535	1309	4925											
KDM5B	10765	broad.mit.edu	37	1	202724582	202724583	+	Splice_Site	INS	-	-	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:202724582_202724583insA	ENST00000367265.3	-	11	2521		c.e11-2		KDM5B_ENST00000367264.2_Splice_Site|KDM5B_ENST00000456180.1_Splice_Site	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B						negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						AAGATACTCCTAAAAATAAGAA	0.347													37	90	---	---	---	---						A	202724583	-	A	202724582	8	5	81	1	0	1	1	0	0	0	1	0	8177	1536	53	0	3347	0	KDM5B	1	202724582	Splice_Site	INS	-	TCGA-DU-6392-01A-11D-1705-08	6496	202724582	46526039	1310	4926											
KDM5B	10765	broad.mit.edu	37	1	202727577	202727577	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:202727577C>T	ENST00000367265.3	-	9	2303	c.1139G>A	c.(1138-1140)cGt>cAt	p.R380H	KDM5B_ENST00000456180.1_5'UTR|KDM5B_ENST00000367264.2_Missense_Mutation_p.R416H	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B	380					negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						CCCAAAAGTACGGAGGGTATA	0.383													23	42					0	0	1	0	0	T	202727577	C	T	202727577	3	4	81	1	0	0	0	0	1	0	0	0	8177	536	19	1	3571	1	KDM5B	1	202727577	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2995	202727577	46523044	1311	4927											
KLHL12	59349	broad.mit.edu	37	1	202866077	202866077	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:202866077C>T	ENST00000367261.3	-	7	1062	c.844G>A	c.(844-846)Gtg>Atg	p.V282M	KLHL12_ENST00000367259.1_Missense_Mutation_p.V15M|KLHL12_ENST00000435533.3_Missense_Mutation_p.V320M	NM_021633.2	NP_067646.1	Q53G59	KLH12_HUMAN	kelch-like family member 12	282					Wnt receptor signaling pathway		protein binding			NS(3)|breast(2)|endometrium(1)|large_intestine(1)|lung(6)|stomach(1)	14			BRCA - Breast invasive adenocarcinoma(75;0.166)			ACCAAAAGCACTTCATTGGCT	0.468													18	220					0	0	1	0	0	T	202866077	C	T	202866077	3	4	81	1	0	0	0	0	1	0	0	0	8411	565	20	2	886	2	KLHL12	1	202866077	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	138500	202866077	46384544	1312	4928											
ADIPOR1	51094	broad.mit.edu	37	1	202917539	202917539	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:202917539C>A	ENST00000340990.5	-	3	449	c.151G>T	c.(151-153)Gag>Tag	p.E51*	ADIPOR1_ENST00000367254.3_Nonsense_Mutation_p.E51*|ADIPOR1_ENST00000436244.1_Nonsense_Mutation_p.E51*	NM_015999.4	NP_057083.2	Q96A54	ADR1_HUMAN	adiponectin receptor 1	51					fatty acid oxidation|hormone-mediated signaling pathway	integral to membrane|plasma membrane	hormone binding|protein kinase binding|receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	16			BRCA - Breast invasive adenocarcinoma(75;0.141)			CATGTTTGCTCTTCTTCAGCC	0.502													24	26					5.45024e-15	6.94259e-15	1	1	0	A	202917539	C	A	202917539	4	1	81	1	0	0	0	0	0	1	0	0	317	922	32	4	1000	4	ADIPOR1	1	202917539	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	51462	202917539	46333082	1313	4929											
PPFIA4	8497	broad.mit.edu	37	1	203029425	203029425	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:203029425G>A	ENST00000367240.2	+	21	3128	c.2601G>A	c.(2599-2601)tcG>tcA	p.S867S	PPFIA4_ENST00000414050.2_Silent_p.S595S|PPFIA4_ENST00000447715.2_Silent_p.S866S|PPFIA4_ENST00000295706.4_Silent_p.S382S|PPFIA4_ENST00000599966.1_Silent_p.S382S|PPFIA4_ENST00000272198.6_Silent_p.S382S			O75335	LIPA4_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4	382					cell communication	cell surface|cytoplasm	protein binding	p.S1021S(1)		NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(20)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	50						CCGCTCTGTCGGACACAGAGA	0.632													29	42					0	0	1	0	0	A	203029425	G	A	203029425	2	1	81	1	0	0	0	0	0	0	0	1	12357	1103	39	1		1	PPFIA4	1	203029425	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	111886	203029425	46221196	1314	4930											
PPFIA4	8497	broad.mit.edu	37	1	203045491	203045491	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:203045491A>G	ENST00000367240.2	+	29	4061	c.3534A>G	c.(3532-3534)ggA>ggG	p.G1178G	PPFIA4_ENST00000414050.2_Silent_p.G906G|PPFIA4_ENST00000447715.2_Silent_p.G1177G|PPFIA4_ENST00000295706.4_Silent_p.G684G|PPFIA4_ENST00000599966.1_Silent_p.G684G|PPFIA4_ENST00000272198.6_Silent_p.G693G|PPFIA4_ENST00000594572.1_Intron			O75335	LIPA4_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4	693					cell communication	cell surface|cytoplasm	protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(20)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	50						ATCTCTACGGACACATGCTCT	0.602													36	53					0	0	1	0	0	G	203045491	A	G	203045491	2	3	81	1	0	0	0	0	0	0	0	1	12357	262	10	3		3	PPFIA4	1	203045491	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	16066	203045491	46205130	1315	4931											
ADORA1	134	broad.mit.edu	37	1	203098113	203098113	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:203098113C>T	ENST00000367236.4	+	2	1065	c.144C>T	c.(142-144)atC>atT	p.I48I	ADORA1_ENST00000337894.4_Silent_p.I48I|ADORA1_ENST00000367235.1_Silent_p.I48I|ADORA1_ENST00000309502.3_Silent_p.I48I	NM_001048230.1	NP_001041695.1	P30542	AA1R_HUMAN	adenosine A1 receptor	48					induction of apoptosis by extracellular signals|inflammatory response|nervous system development|phagocytosis	integral to plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(9)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	25					Aminophylline(DB01223)|Caffeine(DB00201)|Defibrotide(DB04932)|Gabapentin(DB00996)|Imipramine(DB00458)|Pegademase bovine(DB00061)|Theophylline(DB00277)	TCTGCTTCATCGTGTCGCTGG	0.632													64	57					0	0	1	0	0	T	203098113	C	T	203098113	2	4	81	1	0	0	0	0	0	0	0	1	325	874	31	1		1	ADORA1	1	203098113	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	52622	203098113	46152508	1316	4932											
CHIT1	1118	broad.mit.edu	37	1	203188359	203188359	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:203188359C>T	ENST00000367229.1	-	9	1048	c.1014G>A	c.(1012-1014)gaG>gaA	p.E338E	CHIT1_ENST00000535569.1_Silent_p.E329E|CHIT1_ENST00000484834.1_5'UTR|CHIT1_ENST00000255427.3_Silent_p.E319E	NM_001270509.1|NM_003465.2	NP_001257438.1|NP_003456.1	Q13231	CHIT1_HUMAN	chitinase 1 (chitotriosidase)	338					chitin catabolic process|immune response|response to bacterium	extracellular space|lysosome	cation binding|chitin binding|endochitinase activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|stomach(2)	27						TTTTGAAGCTCTCCACATCAT	0.547													31	84					0	0	1	0	0	T	203188359	C	T	203188359	2	4	81	1	0	0	0	0	0	0	0	1	3368	912	32	2		2	CHIT1	1	203188359	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	90246	203188359	46062262	1317	4933											
OPTC	26254	broad.mit.edu	37	1	203472684	203472684	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:203472684C>T	ENST00000367222.2	+	7	951	c.835C>T	c.(835-837)Ctg>Ttg	p.L279L		NM_014359.3	NP_055174.1	Q9UBM4	OPT_HUMAN	opticin	279						proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding			breast(1)|cervix(1)|kidney(5)|large_intestine(3)|lung(8)|pancreas(1)|stomach(1)	20			BRCA - Breast invasive adenocarcinoma(75;0.109)			CCAGAATAACCTGATAGAGAC	0.562													13	61					0	0	1	0	0	T	203472684	C	T	203472684	2	4	81	1	0	0	0	0	0	0	0	1	10936	680	24	2		2	OPTC	1	203472684	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	284325	203472684	45777937	1318	4934											
ZC3H11A	9877	broad.mit.edu	37	1	203798692	203798692	+	Missense_Mutation	SNP	G	G	A	rs142418357	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:203798692G>A	ENST00000545588.1	+	5	4239	c.412G>A	c.(412-414)Gtt>Att	p.V138I	ZC3H11A_ENST00000367212.3_Missense_Mutation_p.V138I|ZC3H11A_ENST00000367210.1_Missense_Mutation_p.V138I|ZC3H11A_ENST00000332127.4_Missense_Mutation_p.V138I|ZC3H11A_ENST00000367214.1_Missense_Mutation_p.V138I	NM_001271675.1	NP_001258604.1	O75152	ZC11A_HUMAN	zinc finger CCCH-type containing 11A	138							nucleic acid binding|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32	all_cancers(21;0.0904)|all_epithelial(62;0.234)		BRCA - Breast invasive adenocarcinoma(75;0.109)			GCTGCGGAGCGTTATGAAAGT	0.463													9	114					0	0	1	0	0	A	203798692	G	A	203798692	3	1	81	1	0	0	0	0	1	0	0	0	17619	1145	40	1	426	1	ZC3H11A	1	203798692	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	326008	203798692	45451929	1319	4935											
ZC3H11A	9877	broad.mit.edu	37	1	203819706	203819707	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:203819706_203819707insA	ENST00000545588.1	+	15	5830_5831	c.2003_2004insA	c.(2002-2007)ccaaaafs	p.PK668fs	ZC3H11A_ENST00000367212.3_Frame_Shift_Ins_p.PK668fs|ZC3H11A_ENST00000332127.4_Frame_Shift_Ins_p.PK668fs|ZC3H11A_ENST00000367214.1_Frame_Shift_Ins_p.PK668fs|ZC3H11A_ENST00000367210.1_Frame_Shift_Ins_p.PK668fs	NM_001271675.1	NP_001258604.1	O75152	ZC11A_HUMAN	zinc finger CCCH-type containing 11A	668							nucleic acid binding|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32	all_cancers(21;0.0904)|all_epithelial(62;0.234)		BRCA - Breast invasive adenocarcinoma(75;0.109)			AAATTGGCCCCAAAACGTAAGG	0.505													44	95	---	---	---	---						A	203819707	-	A	203819706	7	5	81	1	0	1	1	0	0	0	0	0	17619	594	21	0	2057	0	ZC3H11A	1	203819706	Frame_Shift_Ins	INS	-	TCGA-DU-6392-01A-11D-1705-08	21014	203819706	45430915	1320	4936											
ZC3H11A	9877	broad.mit.edu	37	1	203819731	203819731	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:203819731C>T	ENST00000545588.1	+	15	5855	c.2028C>T	c.(2026-2028)caC>caT	p.H676H	ZC3H11A_ENST00000367212.3_Silent_p.H676H|ZC3H11A_ENST00000367210.1_Silent_p.H676H|ZC3H11A_ENST00000332127.4_Silent_p.H676H|ZC3H11A_ENST00000367214.1_Silent_p.H676H	NM_001271675.1	NP_001258604.1	O75152	ZC11A_HUMAN	zinc finger CCCH-type containing 11A	676							nucleic acid binding|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32	all_cancers(21;0.0904)|all_epithelial(62;0.234)		BRCA - Breast invasive adenocarcinoma(75;0.109)			TGGAGATGCACGCTGCTGTCA	0.502													28	56					0	0	1	0	0	T	203819731	C	T	203819731	2	4	81	1	0	0	0	0	0	0	0	1	17619	535	19	1		1	ZC3H11A	1	203819731	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	25	203819731	45430890	1321	4937											
SOX13	9580	broad.mit.edu	37	1	204082138	204082138	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:204082138C>A	ENST00000367204.1	+	2	204	c.95C>A	c.(94-96)cCt>cAt	p.P32H	SOX13_ENST00000367203.4_3'UTR	NM_005686.2	NP_005677.2	Q9UN79	SOX13_HUMAN	SRY (sex determining region Y)-box 13	32					anatomical structure morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)	13	all_cancers(21;0.0754)|Breast(84;0.116)|all_epithelial(62;0.189)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)			AAGAAAGAGCCTTGCCACGAG	0.647													12	15					2.27111e-07	2.65192e-07	1	1	0	A	204082138	C	A	204082138	3	1	81	1	0	0	0	0	1	0	0	0	14998	681	24	4	97	4	SOX13	1	204082138	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	262407	204082138	45168483	1322	4938											
SOX13	9580	broad.mit.edu	37	1	204082240	204082241	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:204082240_204082241insT	ENST00000367204.1	+	2	306_307	c.197_198insT	c.(196-201)caggggfs	p.Q66fs	SOX13_ENST00000367203.4_3'UTR	NM_005686.2	NP_005677.2	Q9UN79	SOX13_HUMAN	SRY (sex determining region Y)-box 13	66					anatomical structure morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)	13	all_cancers(21;0.0754)|Breast(84;0.116)|all_epithelial(62;0.189)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)			GCTCCAGCCCAGGGGAATTTCA	0.688													4	4	---	---	---	---						T	204082241	-	T	204082240	7	5	81	1	0	1	1	0	0	0	0	0	14998	188	7	0	199	0	SOX13	1	204082240	Frame_Shift_Ins	INS	-	TCGA-DU-6392-01A-11D-1705-08	102	204082240	45168381	1323	4939											
ETNK2	55224	broad.mit.edu	37	1	204103686	204103686	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:204103686G>T	ENST00000367199.2	-	6	1248	c.838C>A	c.(838-840)Ctc>Atc	p.L280I	ETNK2_ENST00000367202.4_Missense_Mutation_p.L349I|ETNK2_ENST00000367197.1_Missense_Mutation_p.L31I|ETNK2_ENST00000367201.3_Missense_Mutation_p.P384H|ETNK2_ENST00000367198.2_Missense_Mutation_p.L171I			Q9NVF9	EKI2_HUMAN	ethanolamine kinase 2	349							ATP binding|choline kinase activity|ethanolamine kinase activity			breast(1)|central_nervous_system(1)|large_intestine(4)|ovary(1)	7	all_cancers(21;0.032)|Breast(84;0.116)|all_epithelial(62;0.196)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)			TTCTGGATGAGGGCCCAGAGA	0.567													13	37					1.5842e-08	1.88841e-08	1	1	0	T	204103686	G	T	204103686	3	4	81	1	0	0	0	0	1	0	0	0	5302	1000	35	4	123	4	ETNK2	1	204103686	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	21446	204103686	45146935	1324	4940											
ETNK2	55224	broad.mit.edu	37	1	204109171	204109171	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:204109171T>C	ENST00000367199.2	-	4	1063	c.653A>G	c.(652-654)gAg>gGg	p.E218G	ETNK2_ENST00000367202.4_Missense_Mutation_p.E287G|ETNK2_ENST00000367197.1_5'UTR|ETNK2_ENST00000367201.3_Missense_Mutation_p.E287G|ETNK2_ENST00000367198.2_Missense_Mutation_p.E109G|ETNK2_ENST00000477125.1_5'UTR			Q9NVF9	EKI2_HUMAN	ethanolamine kinase 2	287							ATP binding|choline kinase activity|ethanolamine kinase activity			breast(1)|central_nervous_system(1)|large_intestine(4)|ovary(1)	7	all_cancers(21;0.032)|Breast(84;0.116)|all_epithelial(62;0.196)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)			ACCTGCAAACTCATTGAAATG	0.443													9	69					0	0	1	0	0	C	204109171	T	C	204109171	3	2	81	1	0	0	0	0	1	0	0	0	5302	1551	54	3	316	3	ETNK2	1	204109171	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	5485	204109171	45141450	1325	4941											
ETNK2	55224	broad.mit.edu	37	1	204115784	204115784	+	Silent	SNP	G	G	A	rs143999368	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:204115784G>A	ENST00000367202.4	-	3	777	c.627C>T	c.(625-627)aaC>aaT	p.N209N	ETNK2_ENST00000367199.2_Intron|ETNK2_ENST00000367201.3_Silent_p.N209N|ETNK2_ENST00000367198.2_Silent_p.N31N	NM_018208.2	NP_060678.2	Q9NVF9	EKI2_HUMAN	ethanolamine kinase 2	209							ATP binding|choline kinase activity|ethanolamine kinase activity			breast(1)|central_nervous_system(1)|large_intestine(4)|ovary(1)	7	all_cancers(21;0.032)|Breast(84;0.116)|all_epithelial(62;0.196)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)			GGTTGATCTCGTTCTTCACAA	0.517													8	115					0	0	1	0	0	A	204115784	G	A	204115784	2	1	81	1	0	0	0	0	0	0	0	1	5302	1136	40	1		1	ETNK2	1	204115784	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	6613	204115784	45134837	1326	4942											
LRRN2	10446	broad.mit.edu	37	1	204587428	204587428	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:204587428G>A	ENST00000367175.1	-	1	3905	c.1693C>T	c.(1693-1695)Cgg>Tgg	p.R565W	LRRN2_ENST00000367177.3_Missense_Mutation_p.R565W|LRRN2_ENST00000367176.3_Missense_Mutation_p.R565W			O75325	LRRN2_HUMAN	leucine rich repeat neuronal 2	565					cell adhesion	integral to membrane	receptor activity			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|liver(1)|lung(22)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)			CCCTGGCCCCGGAGGGAGGAG	0.657													27	39					0	0	1	0	0	A	204587428	G	A	204587428	3	1	81	1	0	0	0	0	1	0	0	0	9080	1115	39	1	452	1	LRRN2	1	204587428	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	471644	204587428	44663193	1327	4943											
LRRN2	10446	broad.mit.edu	37	1	204587656	204587656	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:204587656C>T	ENST00000367175.1	-	1	3677	c.1465G>A	c.(1465-1467)Gca>Aca	p.A489T	LRRN2_ENST00000367177.3_Missense_Mutation_p.A489T|LRRN2_ENST00000367176.3_Missense_Mutation_p.A489T			O75325	LRRN2_HUMAN	leucine rich repeat neuronal 2	489	Ig-like C2-type.				cell adhesion	integral to membrane	receptor activity			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|liver(1)|lung(22)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)			GCCTCTTCTGCTGTCACCCTC	0.637													15	26					0	0	1	0	0	T	204587656	C	T	204587656	3	4	81	1	0	0	0	0	1	0	0	0	9080	797	28	2	680	2	LRRN2	1	204587656	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	228	204587656	44662965	1328	4944											
NFASC	23114	broad.mit.edu	37	1	204913447	204913447	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:204913447G>A	ENST00000367172.4	+	3	332	c.4G>A	c.(4-6)Gcc>Acc	p.A2T	NFASC_ENST00000338586.6_Missense_Mutation_p.A2T|NFASC_ENST00000539706.1_Missense_Mutation_p.A2T|NFASC_ENST00000403080.1_Missense_Mutation_p.A2T|NFASC_ENST00000339876.6_Missense_Mutation_p.A2T|NFASC_ENST00000404076.1_Missense_Mutation_p.A2T|NFASC_ENST00000513543.1_Missense_Mutation_p.A2T|NFASC_ENST00000367169.4_Missense_Mutation_p.A2T|NFASC_ENST00000360049.4_Missense_Mutation_p.A2T|NFASC_ENST00000338515.6_Missense_Mutation_p.A2T|NFASC_ENST00000367171.4_Missense_Mutation_p.A2T|NFASC_ENST00000404907.1_Missense_Mutation_p.A2T|NFASC_ENST00000367170.4_Missense_Mutation_p.A2T|NFASC_ENST00000401399.1_Missense_Mutation_p.A2T			O94856	NFASC_HUMAN	neurofascin	2					axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			GCCGAGGATGGCCAGGCAGCC	0.647													7	12					0	0	1	0	0	A	204913447	G	A	204913447	3	1	81	1	0	0	0	0	1	0	0	0	10406	1203	42	2	6	2	NFASC	1	204913447	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	325791	204913447	44337174	1329	4945											
NFASC	23114	broad.mit.edu	37	1	204943842	204943842	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:204943842C>T	ENST00000367172.4	+	14	1777	c.1449C>T	c.(1447-1449)aaC>aaT	p.N483N	NFASC_ENST00000338586.6_Silent_p.N483N|NFASC_ENST00000539706.1_Silent_p.N494N|NFASC_ENST00000403080.1_Silent_p.N483N|NFASC_ENST00000339876.6_Silent_p.N483N|NFASC_ENST00000404076.1_Silent_p.N477N|NFASC_ENST00000513543.1_Silent_p.N494N|NFASC_ENST00000367169.4_Silent_p.N483N|NFASC_ENST00000360049.4_Silent_p.N494N|NFASC_ENST00000338515.6_Silent_p.N483N|NFASC_ENST00000367171.4_Silent_p.N483N|NFASC_ENST00000404907.1_Silent_p.N494N|NFASC_ENST00000367170.4_Silent_p.N483N|NFASC_ENST00000401399.1_Silent_p.N483N			O94856	NFASC_HUMAN	neurofascin	483	Ig-like C2-type 5.				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			TTTATGAGAACGGCAGTCTGG	0.512													51	74					0	0	1	0	0	T	204943842	C	T	204943842	2	4	81	1	0	0	0	0	0	0	0	1	10406	535	19	1		1	NFASC	1	204943842	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	30395	204943842	44306779	1330	4946											
TMEM81	388730	broad.mit.edu	37	1	205053118	205053118	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:205053118C>T	ENST00000367167.3	-	1	527	c.331G>A	c.(331-333)Gag>Aag	p.E111K		NM_203376.1	NP_976310.1	Q6P7N7	TMM81_HUMAN	transmembrane protein 81	111	Ig-like.					integral to membrane				endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	9	all_cancers(21;0.144)|Breast(84;0.0437)		BRCA - Breast invasive adenocarcinoma(75;0.0923)			TGTCCAAACTCCAAGATGTCT	0.488													34	26					0	0	1	0	0	T	205053118	C	T	205053118	3	4	81	1	0	0	0	0	1	0	0	0	16265	864	30	2	440	2	TMEM81	1	205053118	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	109276	205053118	44197503	1331	4947											
TMCC2	9911	broad.mit.edu	37	1	205238741	205238741	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:205238741C>A	ENST00000358024.3	+	3	1800	c.1411C>A	c.(1411-1413)Ccc>Acc	p.P471T	TMCC2_ENST00000329800.7_Missense_Mutation_p.P231T|TMCC2_ENST00000545499.1_Missense_Mutation_p.P393T|TMCC2_ENST00000495538.1_3'UTR|TMCC2_ENST00000330675.7_Missense_Mutation_p.P246T	NM_014858.3	NP_055673.2	O75069	TMCC2_HUMAN	transmembrane and coiled-coil domain family 2	471						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)			CGTCTCCAGCCCCAAGTATGG	0.692													5	63					0.0215528	0.0221217	1	1	0	A	205238741	C	A	205238741	3	1	81	1	0	0	0	0	1	0	0	0	16053	623	22	5	1421	5	TMCC2	1	205238741	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	185623	205238741	44011880	1332	4948											
TMCC2	9911	broad.mit.edu	37	1	205240997	205240997	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:205240997G>A	ENST00000358024.3	+	5	2264	c.1875G>A	c.(1873-1875)caG>caA	p.Q625Q	TMCC2_ENST00000329800.7_Silent_p.Q385Q|TMCC2_ENST00000545499.1_Silent_p.Q547Q|TMCC2_ENST00000495538.1_3'UTR|TMCC2_ENST00000330675.7_Silent_p.Q400Q	NM_014858.3	NP_055673.2	O75069	TMCC2_HUMAN	transmembrane and coiled-coil domain family 2	625						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)			AGCAGCAACAGCAGCAGGTGG	0.662													33	28					0	0	1	0	0	A	205240997	G	A	205240997	2	1	81	1	0	0	0	0	0	0	0	1	16053	962	34	2		2	TMCC2	1	205240997	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2256	205240997	44009624	1333	4949											
KLHDC8A	55220	broad.mit.edu	37	1	205306572	205306572	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:205306572C>A	ENST00000367156.3	-	9	1824	c.1008G>T	c.(1006-1008)caG>caT	p.Q336H	KLHDC8A_ENST00000539253.1_Missense_Mutation_p.Q336H|KLHDC8A_ENST00000460687.1_Missense_Mutation_p.Q202H|KLHDC8A_ENST00000367155.3_Missense_Mutation_p.Q336H|KLHDC8A_ENST00000537168.1_Missense_Mutation_p.Q223H	NM_001271863.1	NP_001258792.1	Q8IYD2	KLD8A_HUMAN	kelch domain containing 8A	336										breast(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Breast(84;0.23)		BRCA - Breast invasive adenocarcinoma(75;0.117)			CACTCAGACCCTGGTTGACAC	0.572													8	144					0.000157383	0.000171784	1	1	0	A	205306572	C	A	205306572	3	1	81	1	0	0	0	0	1	0	0	0	8405	680	24	4	48	4	KLHDC8A	1	205306572	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	65575	205306572	43944049	1334	4950											
SLC45A3	85414	broad.mit.edu	37	1	205628524	205628524	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:205628524C>T	ENST00000367145.3	-	5	1795	c.1500G>A	c.(1498-1500)ctG>ctA	p.L500L	SLC45A3_ENST00000460934.1_5'UTR	NM_033102.2	NP_149093.1	Q96JT2	S45A3_HUMAN	solute carrier family 45, member 3	500					transmembrane transport	integral to membrane			SLC45A3/BRAF(2)|SLC45A3/ELK4(18)|SLC45A3/ETV1(3)|SLC45A3/ETV5_ENST00000306376(2)|SLC45A3/ERG(50)	cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|ovary(3)|prostate(5)	21	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0194)			CCTGGGACAGCAGGAAGGCAC	0.637			T	"ETV1, ETV5, ELK4, ERG"	prostate						OREG0014161	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	16					0	0	1	0	0	T	205628524	C	T	205628524	2	4	81	1	0	0	0	0	0	0	0	1	14697	697	25	2		2	SLC45A3	1	205628524	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	321952	205628524	43622097	1335	4951											
SLC45A3	85414	broad.mit.edu	37	1	205628647	205628647	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:205628647C>T	ENST00000367145.3	-	5	1672	c.1377G>A	c.(1375-1377)gcG>gcA	p.A459A	SLC45A3_ENST00000460934.1_5'UTR	NM_033102.2	NP_149093.1	Q96JT2	S45A3_HUMAN	solute carrier family 45, member 3	459					transmembrane transport	integral to membrane		p.A459A(1)	SLC45A3/BRAF(2)|SLC45A3/ELK4(18)|SLC45A3/ETV1(3)|SLC45A3/ETV5_ENST00000306376(2)|SLC45A3/ERG(50)	cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|ovary(3)|prostate(5)	21	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0194)			CCCCGCAGAGCGCGGGTGGAG	0.682			T	"ETV1, ETV5, ELK4, ERG"	prostate						OREG0014161	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	22					0	0	1	0	0	T	205628647	C	T	205628647	2	4	81	1	0	0	0	0	0	0	0	1	14697	755	27	1		1	SLC45A3	1	205628647	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	123	205628647	43621974	1336	4952											
SLC45A3	85414	broad.mit.edu	37	1	205633685	205633685	+	Missense_Mutation	SNP	C	C	T	rs149769508	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:205633685C>T	ENST00000367145.3	-	2	395	c.100G>A	c.(100-102)Gca>Aca	p.A34T		NM_033102.2	NP_149093.1	Q96JT2	S45A3_HUMAN	solute carrier family 45, member 3	34					transmembrane transport	integral to membrane			SLC45A3/BRAF(2)|SLC45A3/ELK4(18)|SLC45A3/ETV1(3)|SLC45A3/ETV5_ENST00000306376(2)|SLC45A3/ERG(50)	cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|ovary(3)|prostate(5)	21	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0194)			GTGATGCCTGCGGCCAAACAC	0.592			T	"ETV1, ETV5, ELK4, ERG"	prostate								8	114					0	0	1	0	0	T	205633685	C	T	205633685	3	4	81	1	0	0	0	0	1	0	0	0	14697	768	27	1	1577	1	SLC45A3	1	205633685	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	5038	205633685	43616936	1337	4953											
SLC41A1	254428	broad.mit.edu	37	1	205767837	205767837	+	Silent	SNP	C	C	T	rs143860467		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:205767837C>T	ENST00000367137.3	-	6	1818	c.804G>A	c.(802-804)gcG>gcA	p.A268A	SLC41A1_ENST00000468057.1_5'UTR	NM_173854.4	NP_776253.3	Q8IVJ1	S41A1_HUMAN	solute carrier family 41 (magnesium transporter), member 1	268						integral to membrane|plasma membrane	magnesium ion transmembrane transporter activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	17	Breast(84;0.0799)		BRCA - Breast invasive adenocarcinoma(75;0.0252)			CTGAGAGCAGCGCCAAGGTGA	0.567													26	52					0	0	1	0	0	T	205767837	C	T	205767837	2	4	81	1	0	0	0	0	0	0	0	1	14684	755	27	1		1	SLC41A1	1	205767837	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	134152	205767837	43482784	1338	4954											
PM20D1	148811	broad.mit.edu	37	1	205819191	205819191	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:205819191G>A	ENST00000367136.4	-	1	54	c.10C>T	c.(10-12)Cgg>Tgg	p.R4W	PM20D1_ENST00000460624.1_5'UTR	NM_152491.4	NP_689704.4	Q6GTS8	P20D1_HUMAN	peptidase M20 domain containing 1	4						extracellular region	metal ion binding|peptidase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)	28	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0252)			CAAACGCACCGCTGAGCCATG	0.592													20	22					0	0	1	0	0	A	205819191	G	A	205819191	3	1	81	1	0	0	0	0	1	0	0	0	12176	1086	38	1	1550	1	PM20D1	1	205819191	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	51354	205819191	43431430	1339	4955											
SLC26A9	115019	broad.mit.edu	37	1	205904889	205904889	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:205904889G>A	ENST00000367135.3	-	2	173	c.60C>T	c.(58-60)ttC>ttT	p.F20F	SLC26A9_ENST00000340781.4_Silent_p.F20F|SLC26A9_ENST00000367134.2_Silent_p.F20F|RP4-681L3.2_ENST00000421166.1_RNA	NM_052934.3	NP_443166.1	Q7LBE3	S26A9_HUMAN	solute carrier family 26 (anion exchanger), member 9	20						integral to membrane	chloride channel activity|secondary active sulfate transmembrane transporter activity			NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5)	52	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0458)			ACTCATCGTCGAAGAGGGTAA	0.557													39	48					0	0	1	0	0	A	205904889	G	A	205904889	2	1	81	1	0	0	0	0	0	0	0	1	14579	1049	37	1		1	SLC26A9	1	205904889	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	85698	205904889	43345732	1340	4956											
AVPR1B	553	broad.mit.edu	37	1	206225082	206225082	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:206225082G>A	ENST00000367126.4	+	1	1107	c.642G>A	c.(640-642)atG>atA	p.M214I		NM_000707.3	NP_000698.1	P47901	V1BR_HUMAN	arginine vasopressin receptor 1B	214					activation of phospholipase C activity|elevation of cytosolic calcium ion concentration	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)|skin(2)	20			BRCA - Breast invasive adenocarcinoma(75;0.0312)		Desmopressin(DB00035)|Terlipressin(DB02638)|Vasopressin(DB00067)	CGGTGACCATGCTCACGGCCT	0.617													39	51					0	0	1	0	0	A	206225082	G	A	206225082	3	1	81	1	0	0	0	0	1	0	0	0	1230	1319	46	2	644	2	AVPR1B	1	206225082	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	320193	206225082	43025539	1341	4957											
C1orf186	440712	broad.mit.edu	37	1	206243553	206243553	+	Translation_Start_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:206243553C>A	ENST00000331555.5	-	0	588					NM_001007544.1	NP_001007545.1	Q6ZWK4	CA186_HUMAN	chromosome 1 open reading frame 186							integral to membrane				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	9			BRCA - Breast invasive adenocarcinoma(75;0.0754)			AGGAACCACCCTGGCACCTCG	0.557													7	41					0.00307968	0.00324365	1	1	0	A	206243553	C	A	206243553	1	1	81	1	0	0	0	0	0	0	0	0	2033	696	24	4		4	C1orf186	1	206243553	Translation_Start_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	18471	206243553	43007068	1342	4958											
SRGAP2	23380	broad.mit.edu	37	1	206619487	206619487	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:206619487G>A	ENST00000414007.1	+	14	1521	c.1521G>A	c.(1519-1521)tcG>tcA	p.S507S	SRGAP2_ENST00000471256.1_3'UTR|SRGAP2_ENST00000419187.2_5'UTR			O75044	FNBP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 2	647	Rho-GAP.				axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			NS(1)|breast(1)|kidney(1)|lung(1)	4	Breast(84;0.137)					TCGGGCCCTCGCTAATGTCAG	0.532													39	76					0	0	1	0	0	A	206619487	G	A	206619487	2	1	81	1	0	0	0	0	0	0	0	1	15202	1074	38	1		1	SRGAP2	1	206619487	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	375934	206619487	42631134	1343	4959											
SRGAP2	23380	broad.mit.edu	37	1	206626618	206626618	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:206626618A>C	ENST00000414007.1	+	16	1832	c.1832A>C	c.(1831-1833)aAg>aCg	p.K611T	SRGAP2_ENST00000471256.1_3'UTR|SRGAP2_ENST00000419187.2_Missense_Mutation_p.K56T			O75044	FNBP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 2	751	Rho-GAP.				axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			NS(1)|breast(1)|kidney(1)|lung(1)	4	Breast(84;0.137)					TCCTTTAAGAAGGGAGCATCC	0.567													9	9					0	0	1	0	0	C	206626618	A	C	206626618	3	2	81	1	0	0	0	0	1	0	0	0	15202	72	3	5	2058	5	SRGAP2	1	206626618	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	7131	206626618	42624003	1344	4960											
SRGAP2	23380	broad.mit.edu	37	1	206632041	206632041	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:206632041C>T	ENST00000414007.1	+	18	2160	c.2160C>T	c.(2158-2160)tcC>tcT	p.S720S	SRGAP2_ENST00000419187.2_Silent_p.S178S			O75044	FNBP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 2	860					axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			NS(1)|breast(1)|kidney(1)|lung(1)	4	Breast(84;0.137)					TGAGCAGTTCCCTGACTGACT	0.572													4	10					0	0	1	0	0	T	206632041	C	T	206632041	2	4	81	1	0	0	0	0	0	0	0	1	15202	610	22	2		2	SRGAP2	1	206632041	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	5423	206632041	42618580	1345	4961											
SRGAP2	23380	broad.mit.edu	37	1	206632219	206632219	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:206632219C>T	ENST00000414007.1	+	18	2338	c.2338C>T	c.(2338-2340)Cgg>Tgg	p.R780W	SRGAP2_ENST00000419187.2_Missense_Mutation_p.R238W			O75044	FNBP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 2	920	SH3.				axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			NS(1)|breast(1)|kidney(1)|lung(1)	4	Breast(84;0.137)					TCCACAGATCCGGAAGACTGC	0.552													8	15					0	0	1	0	0	T	206632219	C	T	206632219	3	4	81	1	0	0	0	0	1	0	0	0	15202	643	23	1	2576	1	SRGAP2	1	206632219	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	178	206632219	42618402	1346	4962											
SRGAP2	23380	broad.mit.edu	37	1	206634618	206634618	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:206634618G>A	ENST00000414007.1	+	19	2649	c.2649G>A	c.(2647-2649)cgG>cgA	p.R883R				O75044	FNBP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 2	1023	Ser-rich.				axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			NS(1)|breast(1)|kidney(1)|lung(1)	4	Breast(84;0.137)					GCGCCTTCCGGCCTGTCAAGT	0.642													28	26					0	0	1	0	0	A	206634618	G	A	206634618	2	1	81	1	0	0	0	0	0	0	0	1	15202	1190	42	2		2	SRGAP2	1	206634618	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2399	206634618	42616003	1347	4963											
IKBKE	9641	broad.mit.edu	37	1	206647680	206647680	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:206647680G>A	ENST00000367120.3	+	4	467	c.94G>A	c.(94-96)Gga>Aga	p.G32R	IKBKE_ENST00000463979.1_3'UTR|IKBKE_ENST00000537984.1_5'UTR	NM_001193322.1|NM_014002.3	NP_001180251.1|NP_054721.1	Q14164	IKKE_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase epsilon	32	Protein kinase.				DNA damage response, signal transduction resulting in induction of apoptosis|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane|PML body	ATP binding|IkappaB kinase activity|NF-kappaB-inducing kinase activity|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|skin(2)	32	Breast(84;0.137)					GCAGAAATCCGGAGAGCTGGT	0.602													28	25					0	0	1	0	0	A	206647680	G	A	206647680	3	1	81	1	0	0	0	0	1	0	0	0	7656	1117	39	1	100	1	IKBKE	1	206647680	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	13062	206647680	42602941	1348	4964											
IKBKE	9641	broad.mit.edu	37	1	206651588	206651588	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:206651588G>A	ENST00000367120.3	+	9	1271	c.898G>A	c.(898-900)Gcg>Acg	p.A300T	IKBKE_ENST00000537984.1_Missense_Mutation_p.A215T	NM_001193322.1|NM_014002.3	NP_001180251.1|NP_054721.1	Q14164	IKKE_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase epsilon	300	Protein kinase.				DNA damage response, signal transduction resulting in induction of apoptosis|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane|PML body	ATP binding|IkappaB kinase activity|NF-kappaB-inducing kinase activity|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|skin(2)	32	Breast(84;0.137)					CCAGTTCTTTGCGGAGACCAG	0.602													6	87					0	0	1	0	0	A	206651588	G	A	206651588	3	1	81	1	0	0	0	0	1	0	0	0	7656	1319	46	2	924	2	IKBKE	1	206651588	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	3908	206651588	42599033	1349	4965											
RASSF5	83593	broad.mit.edu	37	1	206760238	206760238	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:206760238G>A	ENST00000304534.8	+	5	1135	c.726G>A	c.(724-726)gtG>gtA	p.V242V	RASSF5_ENST00000491368.1_3'UTR|RASSF5_ENST00000367117.3_3'UTR|EIF2D_ENST00000472709.2_Intron|RASSF5_ENST00000355294.4_Silent_p.V395V	NM_182665.2	NP_872606.1	Q8WWW0	RASF5_HUMAN	Ras association (RalGDS/AF-6) domain family member 5	395					apoptosis|intracellular signal transduction	cytoplasm|microtubule	metal ion binding|protein binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	8	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.166)			TCCAACAAGTGCAAAAGAAGT	0.502													42	56					0	0	1	0	0	A	206760238	G	A	206760238	2	1	81	1	0	0	0	0	0	0	0	1	13141	1306	46	2		2	RASSF5	1	206760238	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	108650	206760238	42490383	1350	4966											
MAPKAPK2	9261	broad.mit.edu	37	1	206902780	206902780	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:206902780A>G	ENST00000367103.3	+	4	717	c.524A>G	c.(523-525)cAg>cGg	p.Q175R	MAPKAPK2_ENST00000294981.4_Missense_Mutation_p.Q175R	NM_004759.4|NM_032960.3	NP_004750.1|NP_116584.2	P49137	MAPK2_HUMAN	mitogen-activated protein kinase-activated protein kinase 2	175	Protein kinase.				activation of MAPK activity|hormone biosynthetic process|innate immune response|leukotriene biosynthetic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|prostanoid metabolic process|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|signal transducer activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	19	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.211)			GAGGCCATCCAGTATCTGCAT	0.522													25	223					0	0	1	0	0	G	206902780	A	G	206902780	3	3	81	1	0	0	0	0	1	0	0	0	9339	188	7	3	538	3	MAPKAPK2	1	206902780	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	142542	206902780	42347841	1351	4967											
IL10	3586	broad.mit.edu	37	1	206944381	206944381	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:206944381C>T	ENST00000423557.1	-	3	307	c.249G>A	c.(247-249)ttG>ttA	p.L83L	IL10_ENST00000471071.1_5'UTR	NM_000572.2	NP_000563.1	P22301	IL10_HUMAN	interleukin 10	83					anti-apoptosis|B cell differentiation|B cell proliferation|cytoplasmic sequestering of NF-kappaB|inflammatory response|leukocyte chemotaxis|negative regulation of B cell proliferation|negative regulation of cytokine secretion involved in immune response|negative regulation of interferon-alpha biosynthetic process|negative regulation of interleukin-6 production|negative regulation of membrane protein ectodomain proteolysis|negative regulation of MHC class II biosynthetic process|negative regulation of T cell proliferation|positive regulation of B cell apoptosis|positive regulation of cytokine secretion|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|receptor biosynthetic process|regulation of isotype switching|response to glucocorticoid stimulus|type 2 immune response	extracellular space	cytokine activity|growth factor activity|interleukin-10 receptor binding			endometrium(1)|large_intestine(6)|lung(4)|prostate(1)	12	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.211)			TCATCTCAGACAAGGCTTGGC	0.562													7	72					0	0	1	0	0	T	206944381	C	T	206944381	2	4	81	1	0	0	0	0	0	0	0	1	7663	477	17	2		2	IL10	1	206944381	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	41601	206944381	42306240	1352	4968											
FAIM3	9214	broad.mit.edu	37	1	207078478	207078478	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:207078478G>T	ENST00000367091.3	-	8	1202	c.1059C>A	c.(1057-1059)ccC>ccA	p.P353P	FAIM3_ENST00000528654.1_5'UTR|FAIM3_ENST00000442471.2_Silent_p.P241P|FAIM3_ENST00000420007.2_3'UTR	NM_005449.4	NP_005440.1	O60667	FAIM3_HUMAN	Fas apoptotic inhibitory molecule 3	353					anti-apoptosis|cellular defense response	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	15	Breast(84;0.201)					CATGGAGCCAGGGAGATTCAG	0.512													4	42					0.00024832	0.000269806	1	1	0	T	207078478	G	T	207078478	2	4	81	1	0	0	0	0	0	0	0	1	5408	987	35	4		4	FAIM3	1	207078478	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	134097	207078478	42172143	1353	4969											
FCAMR	83953	broad.mit.edu	37	1	207131913	207131913	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:207131913G>T	ENST00000324852.4	-	8	2156	c.1682C>A	c.(1681-1683)tCt>tAt	p.S561Y	FCAMR_ENST00000450945.2_3'UTR|FCAMR_ENST00000400962.3_3'UTR|FCAMR_ENST00000486178.1_5'UTR	NM_001170631.1	NP_001164102.1	Q8WWV6	FCAMR_HUMAN	Fc receptor, IgA, IgM, high affinity	516						integral to membrane|plasma membrane	receptor activity			endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(1)	11						AGCAGGAAGAGAGTCATCCTG	0.527													8	98					0.00448238	0.00470627	1	1	0	T	207131913	G	T	207131913	3	4	81	1	0	0	0	0	1	0	0	0	5805	942	33	4	55	4	FCAMR	1	207131913	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	53435	207131913	42118708	1354	4970											
FCAMR	83953	broad.mit.edu	37	1	207140951	207140951	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:207140951C>T	ENST00000324852.4	-	2	559	c.85G>A	c.(85-87)Gct>Act	p.A29T	FCAMR_ENST00000450945.2_Missense_Mutation_p.A29T|FCAMR_ENST00000400962.3_Missense_Mutation_p.A29T	NM_001170631.1	NP_001164102.1	Q8WWV6	FCAMR_HUMAN	Fc receptor, IgA, IgM, high affinity	328						integral to membrane|plasma membrane	receptor activity			endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(1)	11						aaagtgccagcaatgagcctg	0.443													9	173					0	0	1	0	0	T	207140951	C	T	207140951	3	4	81	1	0	0	0	0	1	0	0	0	5805	710	25	2	1676	2	FCAMR	1	207140951	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	9038	207140951	42109670	1355	4971											
C1orf116	79098	broad.mit.edu	37	1	207200840	207200840	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:207200840G>T	ENST00000359470.5	-	2	353	c.104C>A	c.(103-105)tCt>tAt	p.S35Y	C1orf116_ENST00000461135.2_Intron	NM_023938.5	NP_076427.2	Q9BW04	SARG_HUMAN	chromosome 1 open reading frame 116	35						cytoplasm|plasma membrane	receptor activity	p.S35F(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(4)|stomach(1)	29	Prostate(682;0.19)					ATTACGTACAGATCCAGAGCG	0.637													6	72					5.9392e-07	6.87481e-07	1	1	0	T	207200840	G	T	207200840	5	4	81	1	0	0	0	0	0	0	1	0	2002	956	33	4	1713	4	C1orf116	1	207200840	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	59889	207200840	42049781	1356	4972											
PFKFB2	5208	broad.mit.edu	37	1	207240872	207240872	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:207240872G>A	ENST00000367080.3	+	9	785	c.661G>A	c.(661-663)Gtg>Atg	p.V221M	PFKFB2_ENST00000367079.2_Missense_Mutation_p.V221M|PFKFB2_ENST00000545806.1_Missense_Mutation_p.V188M|PFKFB2_ENST00000411990.2_Missense_Mutation_p.V123M|PFKFB2_ENST00000541914.1_Missense_Mutation_p.V35M	NM_006212.2	NP_006203.2	O60825	F262_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 2	221	6-phosphofructo-2-kinase.				fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	20	Prostate(682;0.19)					GGTGATAAACGTGGGCCAGCG	0.428													9	80					0	0	1	0	0	A	207240872	G	A	207240872	3	1	81	1	0	0	0	0	1	0	0	0	11809	1145	40	1	691	1	PFKFB2	1	207240872	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	40032	207240872	42009749	1357	4973											
C4BPA	722	broad.mit.edu	37	1	207297591	207297591	+	Missense_Mutation	SNP	G	G	A	rs143323893		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:207297591G>A	ENST00000367070.3	+	6	780	c.586G>A	c.(586-588)Ggc>Agc	p.G196S		NM_000715.3	NP_000706.1	P04003	C4BPA_HUMAN	complement component 4 binding protein, alpha	196	Sushi 3.				complement activation, classical pathway|innate immune response	extracellular region	protein binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(1)|urinary_tract(2)	28						CTACGCATACGGCTTTTCTGT	0.478													8	80					0	0	1	0	0	A	207297591	G	A	207297591	3	1	81	1	0	0	0	0	1	0	0	0	2264	1116	39	1	604	1	C4BPA	1	207297591	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	56719	207297591	41953030	1358	4974											
CD55	1604	broad.mit.edu	37	1	207499017	207499017	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:207499017C>T	ENST00000367064.3	+	4	787	c.529C>T	c.(529-531)Cca>Tca	p.P177S	CD55_ENST00000367063.2_Missense_Mutation_p.P177S|CD55_ENST00000465534.1_3'UTR|CD55_ENST00000367062.4_Missense_Mutation_p.P177S|CD55_ENST00000367067.4_3'UTR|CD55_ENST00000367065.5_Missense_Mutation_p.P177S|CD55_ENST00000391921.4_Missense_Mutation_p.P113S|CD55_ENST00000391920.4_Missense_Mutation_p.P177S|CD55_ENST00000314754.8_Missense_Mutation_p.P177S	NM_000574.3	NP_000565.1	P08174	DAF_HUMAN	CD55 molecule, decay accelerating factor for complement (Cromer blood group)	177	Sushi 3.				complement activation, classical pathway|elevation of cytosolic calcium ion concentration|innate immune response|respiratory burst	anchored to membrane|extracellular region|integral to plasma membrane|membrane raft|soluble fraction	receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	16					Chloramphenicol(DB00446)	GATTGATGTACCAGGTGGCAT	0.343													20	101					0	0	1	0	0	T	207499017	C	T	207499017	3	4	81	1	0	0	0	0	1	0	0	0	3046	507	18	2	543	2	CD55	1	207499017	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	201426	207499017	41751604	1359	4975											
CR2	1380	broad.mit.edu	37	1	207643049	207643049	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:207643049G>A	ENST00000367057.3	+	6	1016	c.827G>A	c.(826-828)tGc>tAc	p.C276Y	CR2_ENST00000485707.1_3'UTR|CR2_ENST00000458541.2_Missense_Mutation_p.C276Y|CR2_ENST00000367058.3_Missense_Mutation_p.C276Y|CR2_ENST00000367059.3_Missense_Mutation_p.C276Y	NM_001006658.2	NP_001006659.1	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	276	Sushi 5.				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						GAAATTTTTTGCCCATCACCT	0.428													13	75					0	0	1	0	0	A	207643049	G	A	207643049	3	1	81	1	0	0	0	0	1	0	0	0	3865	1319	46	2	849	2	CR2	1	207643049	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	144032	207643049	41607572	1360	4976											
CR1	1378	broad.mit.edu	37	1	207753865	207753865	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:207753865G>C	ENST00000367049.4	+	31	5123	c.5123G>C	c.(5122-5124)tGt>tCt	p.C1708S	CR1_ENST00000367053.1_Missense_Mutation_p.C1258S|CR1_ENST00000367052.1_Missense_Mutation_p.C1258S|RP11-78B10.2_ENST00000596003.1_RNA|CR1_ENST00000367051.1_Missense_Mutation_p.C1258S|RP11-78B10.2_ENST00000597497.1_RNA|CR1_ENST00000400960.2_Missense_Mutation_p.C1258S	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	1258	Sushi 26.				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						GTGAAATCCTGTGATGACTTC	0.433													65	134					0	0	1	0	0	C	207753865	G	C	207753865	3	2	81	1	0	0	0	0	1	0	0	0	3863	1377	48	5	5245	5	CR1	1	207753865	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	110816	207753865	41496756	1361	4977											
CR1	1378	broad.mit.edu	37	1	207753903	207753903	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:207753903C>T	ENST00000367049.4	+	31	5161	c.5161C>T	c.(5161-5163)Cta>Tta	p.L1721L	CR1_ENST00000367053.1_Silent_p.L1271L|CR1_ENST00000367052.1_Silent_p.L1271L|RP11-78B10.2_ENST00000596003.1_RNA|CR1_ENST00000367051.1_Silent_p.L1271L|RP11-78B10.2_ENST00000597497.1_RNA|CR1_ENST00000400960.2_Silent_p.L1271L	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	1271	Sushi 27.				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						TGGCCGTGTGCTATTTCCACT	0.438													90	189					0	0	1	0	0	T	207753903	C	T	207753903	2	4	81	1	0	0	0	0	0	0	0	1	3863	796	28	2		2	CR1	1	207753903	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	38	207753903	41496718	1362	4978											
CD46	4179	broad.mit.edu	37	1	207940505	207940505	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:207940505G>T	ENST00000358170.2	+	6	977	c.821G>T	c.(820-822)aGt>aTt	p.S274I	CD46_ENST00000480003.1_Missense_Mutation_p.S274I|CD46_ENST00000354848.1_Missense_Mutation_p.S274I|CD46_ENST00000367041.1_Missense_Mutation_p.S274I|CD46_ENST00000361067.1_Missense_Mutation_p.S274I|CD46_ENST00000360212.2_Missense_Mutation_p.S274I|CD46_ENST00000441839.2_Missense_Mutation_p.S274I|CD46_ENST00000322875.4_Missense_Mutation_p.S274I|CD46_ENST00000367047.1_Missense_Mutation_p.S211I|CD46_ENST00000469535.1_3'UTR|CD46_ENST00000367042.1_Missense_Mutation_p.S274I|CD46_ENST00000322918.5_Missense_Mutation_p.S274I|CD46_ENST00000357714.1_Missense_Mutation_p.S274I	NM_002389.4	NP_002380.3	P15529	MCP_HUMAN	CD46 molecule, complement regulatory protein	274	Sushi 4.				complement activation, classical pathway|innate immune response|interspecies interaction between organisms|single fertilization	inner acrosomal membrane|integral to plasma membrane	protein binding|receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	19						GACAGTAACAGTACTTGGGAT	0.363													10	110					0.000442599	0.000477972	1	1	0	T	207940505	G	T	207940505	3	4	81	1	0	0	0	0	1	0	0	0	3040	1029	36	4	843	4	CD46	1	207940505	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	186602	207940505	41310116	1363	4979											
CD34	947	broad.mit.edu	37	1	208063122	208063122	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:208063122G>A	ENST00000367036.3	-	1	715	c.61C>T	c.(61-63)Cag>Tag	p.Q21*	CD34_ENST00000485761.1_Intron|CD34_ENST00000356522.4_Intron|CD34_ENST00000537704.1_Intron|CD34_ENST00000310833.7_Intron			P28906	CD34_HUMAN	CD34 molecule	0					cell-cell adhesion|leukocyte migration|regulation of immune response	integral to membrane	carbohydrate binding			kidney(2)|large_intestine(2)|lung(8)|ovary(1)	13						ACTGCTAACTGTATATGTGCA	0.348													5	9					0	0	1	0	0	A	208063122	G	A	208063122	4	1	81	1	0	0	0	0	0	1	0	0	3028	1392	48	2		2	CD34	1	208063122	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	122617	208063122	41187499	1364	4980											
PLXNA2	5362	broad.mit.edu	37	1	208201469	208201469	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:208201469C>A	ENST00000367033.3	-	31	6231	c.5474G>T	c.(5473-5475)aGt>aTt	p.S1825I	PLXNA2_ENST00000483048.1_5'UTR	NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	1825					axon guidance	integral to membrane|intracellular|plasma membrane				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		GTCCTGGTCACTGATGGCTGG	0.567													7	155					0.0381472	0.0389402	1	1	0	A	208201469	C	A	208201469	3	1	81	1	0	0	0	0	1	0	0	0	12168	565	20	4	218	4	PLXNA2	1	208201469	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	138347	208201469	41049152	1365	4981											
PLXNA2	5362	broad.mit.edu	37	1	208206762	208206762	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:208206762G>A	ENST00000367033.3	-	28	5714	c.4957C>T	c.(4957-4959)Cat>Tat	p.H1653Y		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	1653					axon guidance	integral to membrane|intracellular|plasma membrane				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		TTCACCAGATGCCACACCTTG	0.622													27	36					0	0	1	0	0	A	208206762	G	A	208206762	3	1	81	1	0	0	0	0	1	0	0	0	12168	1319	46	2	747	2	PLXNA2	1	208206762	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	5293	208206762	41043859	1366	4982											
PLXNA2	5362	broad.mit.edu	37	1	208215490	208215490	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:208215490G>A	ENST00000367033.3	-	22	4996	c.4239C>T	c.(4237-4239)atC>atT	p.I1413I		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	1413					axon guidance	integral to membrane|intracellular|plasma membrane				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		GGTTCTTATCGATGAGGTCAG	0.612													36	31					0	0	1	0	0	A	208215490	G	A	208215490	2	1	81	1	0	0	0	0	0	0	0	1	12168	1048	37	1		1	PLXNA2	1	208215490	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	8728	208215490	41035131	1367	4983											
PLXNA2	5362	broad.mit.edu	37	1	208215502	208215502	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:208215502G>T	ENST00000367033.3	-	22	4984	c.4227C>A	c.(4225-4227)ctC>ctA	p.L1409L		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	1409					axon guidance	integral to membrane|intracellular|plasma membrane				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		TGAGGTCAGAGAGCAGCTGCT	0.607													23	43					8.04996e-18	1.041e-17	1	1	0	T	208215502	G	T	208215502	2	4	81	1	0	0	0	0	0	0	0	1	12168	929	33	4		4	PLXNA2	1	208215502	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	12	208215502	41035119	1368	4984											
PLXNA2	5362	broad.mit.edu	37	1	208217962	208217962	+	Silent	SNP	G	G	A	rs139061737		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:208217962G>A	ENST00000367033.3	-	20	4522	c.3765C>T	c.(3763-3765)atC>atT	p.I1255I		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	1255					axon guidance	integral to membrane|intracellular|plasma membrane				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		CAATGAGGACGATGATGACGA	0.582													24	22					0	0	1	0	0	A	208217962	G	A	208217962	2	1	81	1	0	0	0	0	0	0	0	1	12168	1048	37	1		1	PLXNA2	1	208217962	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2460	208217962	41032659	1369	4985											
PLXNA2	5362	broad.mit.edu	37	1	208219374	208219374	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:208219374C>T	ENST00000367033.3	-	18	4101	c.3344G>A	c.(3343-3345)cGc>cAc	p.R1115H		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	1115	IPT/TIG 3.				axon guidance	integral to membrane|intracellular|plasma membrane				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		CTCATCTGGGCGTTCCACAGT	0.493													8	62					0	0	1	0	0	T	208219374	C	T	208219374	3	4	81	1	0	0	0	0	1	0	0	0	12168	768	27	1	2400	1	PLXNA2	1	208219374	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1412	208219374	41031247	1370	4986											
PLXNA2	5362	broad.mit.edu	37	1	208252614	208252614	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:208252614T>G	ENST00000367033.3	-	12	3334	c.2577A>C	c.(2575-2577)caA>caC	p.Q859H		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	859	IPT/TIG 1.				axon guidance	integral to membrane|intracellular|plasma membrane				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		CCTCGGTGATTTGAGGGTTGG	0.597													6	43					0	0	1	0	0	G	208252614	T	G	208252614	3	3	81	1	0	0	0	0	1	0	0	0	12168	1838	64	5	3191	5	PLXNA2	1	208252614	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	33240	208252614	40998007	1371	4987											
PLXNA2	5362	broad.mit.edu	37	1	208315692	208315692	+	Silent	SNP	G	G	A	rs149871348	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:208315692G>A	ENST00000367033.3	-	4	2245	c.1488C>T	c.(1486-1488)taC>taT	p.Y496Y		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	496	Sema.				axon guidance	integral to membrane|intracellular|plasma membrane				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		CAGACATGACGTACAGGTAGC	0.512													34	36					0	0	1	0	0	A	208315692	G	A	208315692	2	1	81	1	0	0	0	0	0	0	0	1	12168	1140	40	1		1	PLXNA2	1	208315692	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	63078	208315692	40934929	1372	4988											
CAMK1G	57172	broad.mit.edu	37	1	209778919	209778919	+	Missense_Mutation	SNP	G	G	A	rs144255822		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:209778919G>A	ENST00000009105.1	+	5	580	c.335G>A	c.(334-336)cGg>cAg	p.R112Q	CAMK1G_ENST00000361322.2_Missense_Mutation_p.R112Q			Q96NX5	KCC1G_HUMAN	calcium/calmodulin-dependent protein kinase IG	112	Protein kinase.					Golgi membrane|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			breast(2)|central_nervous_system(1)|large_intestine(8)|lung(8)|stomach(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.0475)		ATCCTGGAGCGGGGTGTCTAC	0.493													8	109					0	0	1	0	0	A	209778919	G	A	209778919	3	1	81	1	0	0	0	0	1	0	0	0	2616	1116	39	1	349	1	CAMK1G	1	209778919	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1463227	209778919	39471702	1373	4989											
CAMK1G	57172	broad.mit.edu	37	1	209779784	209779784	+	Silent	SNP	C	C	T	rs148684307	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:209779784C>T	ENST00000009105.1	+	6	800	c.555C>T	c.(553-555)taC>taT	p.Y185Y	CAMK1G_ENST00000361322.2_Silent_p.Y185Y			Q96NX5	KCC1G_HUMAN	calcium/calmodulin-dependent protein kinase IG	185	Protein kinase.					Golgi membrane|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			breast(2)|central_nervous_system(1)|large_intestine(8)|lung(8)|stomach(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.0475)		CCCCAGGCTACGTGGGTAAGT	0.488													37	58					0	0	1	0	0	T	209779784	C	T	209779784	2	4	81	1	0	0	0	0	0	0	0	1	2616	547	19	1		1	CAMK1G	1	209779784	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	865	209779784	39470837	1374	4990											
CAMK1G	57172	broad.mit.edu	37	1	209781261	209781261	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:209781261C>T	ENST00000009105.1	+	7	863	c.618C>T	c.(616-618)ggC>ggT	p.G206G	CAMK1G_ENST00000494990.1_3'UTR|CAMK1G_ENST00000361322.2_Silent_p.G206G			Q96NX5	KCC1G_HUMAN	calcium/calmodulin-dependent protein kinase IG	206	Protein kinase.					Golgi membrane|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			breast(2)|central_nervous_system(1)|large_intestine(8)|lung(8)|stomach(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.0475)		GGTCCATCGGCGTCATCACCT	0.582													28	44					0	0	1	0	0	T	209781261	C	T	209781261	2	4	81	1	0	0	0	0	0	0	0	1	2616	755	27	1		1	CAMK1G	1	209781261	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1477	209781261	39469360	1375	4991											
TRAF3IP3	80342	broad.mit.edu	37	1	209950737	209950737	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:209950737G>A	ENST00000367024.1	+	12	1610	c.1094G>A	c.(1093-1095)cGa>cAa	p.R365Q	TRAF3IP3_ENST00000367025.3_Missense_Mutation_p.R365Q|TRAF3IP3_ENST00000477431.1_Missense_Mutation_p.R101Q|TRAF3IP3_ENST00000367023.1_Missense_Mutation_p.R101Q|TRAF3IP3_ENST00000367026.3_Missense_Mutation_p.R345Q|TRAF3IP3_ENST00000010338.4_Missense_Mutation_p.R345Q|TRAF3IP3_ENST00000400959.3_Missense_Mutation_p.R345Q			Q9Y228	T3JAM_HUMAN	TRAF3 interacting protein 3	365						integral to membrane	protein binding			breast(2)|endometrium(1)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32				OV - Ovarian serous cystadenocarcinoma(81;0.045)		CAGGCCCTGCGATTTTTGGAA	0.537													6	28					0	0	1	0	0	A	209950737	G	A	209950737	3	1	81	1	0	0	0	0	1	0	0	0	16503	1058	37	1	1132	1	TRAF3IP3	1	209950737	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	169476	209950737	39299884	1376	4992											
IRF6	3664	broad.mit.edu	37	1	209963041	209963041	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:209963041G>A	ENST00000367021.3	-	8	1322	c.1150C>T	c.(1150-1152)Cca>Tca	p.P384S	IRF6_ENST00000542854.1_Missense_Mutation_p.P289S	NM_006147.3	NP_006138.1	O14896	IRF6_HUMAN	interferon regulatory factor 6	384					cell cycle arrest|interferon-gamma-mediated signaling pathway|mammary gland epithelial cell differentiation|negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|type I interferon-mediated signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			cervix(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	28				OV - Ovarian serous cystadenocarcinoma(81;0.0351)		CTTTCCAATGGTTTCCCATCT	0.463										HNSCC(57;0.16)			21	38					0	0	1	0	0	A	209963041	G	A	209963041	3	1	81	1	0	0	0	0	1	0	0	0	7878	1261	44	2	261	2	IRF6	1	209963041	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	12304	209963041	39287580	1377	4993											
SYT14	255928	broad.mit.edu	37	1	210273780	210273780	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:210273780A>G	ENST00000537238.1	+	7	1415	c.1024A>G	c.(1024-1026)Ata>Gta	p.I342V	SYT14_ENST00000534859.1_Missense_Mutation_p.I380V|SYT14_ENST00000271745.7_Intron|SYT14_ENST00000367015.1_Missense_Mutation_p.I342V|SYT14_ENST00000422431.1_Missense_Mutation_p.I425V|SYT14_ENST00000399639.2_Missense_Mutation_p.I380V|SYT14_ENST00000472886.1_Missense_Mutation_p.I380V|SYT14_ENST00000367019.1_Missense_Mutation_p.I380V	NM_001256006.1|NM_153262.3	NP_001242935.1|NP_694994.2	Q8NB59	SYT14_HUMAN	synaptotagmin XIV	380	C2 1.					integral to membrane				endometrium(4)|large_intestine(11)|lung(17)|ovary(1)|prostate(1)|skin(3)	37				OV - Ovarian serous cystadenocarcinoma(81;0.085)		ATTGCCTGTGATATTGGAACC	0.313													23	47					0	0	1	0	0	G	210273780	A	G	210273780	3	3	81	1	0	0	0	0	1	0	0	0	15527	333	12	3	1299	3	SYT14	1	210273780	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	310739	210273780	38976841	1378	4994											
SYT14	255928	broad.mit.edu	37	1	210329132	210329132	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:210329132C>A	ENST00000537238.1	+	8	1508	c.1117C>A	c.(1117-1119)Ctt>Att	p.L373I	SYT14_ENST00000534859.1_Missense_Mutation_p.L411I|SYT14_ENST00000271745.7_3'UTR|SYT14_ENST00000367015.1_Missense_Mutation_p.L373I|SYT14_ENST00000422431.1_Missense_Mutation_p.L456I|SYT14_ENST00000399639.2_Missense_Mutation_p.L411I|SYT14_ENST00000472886.1_Missense_Mutation_p.L411I|SYT14_ENST00000367019.1_Missense_Mutation_p.L411I	NM_001256006.1|NM_153262.3	NP_001242935.1|NP_694994.2	Q8NB59	SYT14_HUMAN	synaptotagmin XIV	411	C2 1.					integral to membrane				endometrium(4)|large_intestine(11)|lung(17)|ovary(1)|prostate(1)|skin(3)	37				OV - Ovarian serous cystadenocarcinoma(81;0.085)		ATGTCAGTCTCTTGAACATGG	0.388													23	58					3.62473e-10	4.42231e-10	1	1	0	A	210329132	C	A	210329132	3	1	81	1	0	0	0	0	1	0	0	0	15527	913	32	4	1396	4	SYT14	1	210329132	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	55352	210329132	38921489	1379	4995											
HHAT	55733	broad.mit.edu	37	1	210796895	210796895	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:210796895G>A	ENST00000367010.1	+	11	1498	c.1271G>A	c.(1270-1272)cGc>cAc	p.R424H	HHAT_ENST00000545154.1_Missense_Mutation_p.R425H|HHAT_ENST00000541565.1_Missense_Mutation_p.R287H|HHAT_ENST00000308852.6_Missense_Mutation_p.R379H|HHAT_ENST00000413764.2_Missense_Mutation_p.R424H|HHAT_ENST00000367009.1_Missense_Mutation_p.R114H|HHAT_ENST00000391905.3_Missense_Mutation_p.R424H|HHAT_ENST00000261458.3_Missense_Mutation_p.R424H|HHAT_ENST00000545781.1_Missense_Mutation_p.R361H|HHAT_ENST00000537898.1_Missense_Mutation_p.R359H	NM_001170580.1	NP_001164051.1	Q5VTY9	HHAT_HUMAN	hedgehog acyltransferase	424					multicellular organismal development	endoplasmic reticulum membrane|integral to membrane	GTP binding			breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	27				OV - Ovarian serous cystadenocarcinoma(81;0.0136)|all cancers(67;0.161)|KIRC - Kidney renal clear cell carcinoma(1967;0.215)		CCACAAGCTCGCCGTCGATTC	0.512													98	203					0	0	1	0	0	A	210796895	G	A	210796895	3	1	81	1	0	0	0	0	1	0	0	0	7130	1087	38	1	1407	1	HHAT	1	210796895	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	467763	210796895	38453726	1380	4996											
KCNH1	3756	broad.mit.edu	37	1	211093189	211093189	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:211093189G>T	ENST00000367007.4	-	7	1343	c.1174C>A	c.(1174-1176)Ctg>Atg	p.L392M	KCNH1_ENST00000271751.4_Missense_Mutation_p.L419M	NM_002238.3|NM_172362.2	NP_002229.1|NP_758872.1	O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1	419					myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		AGTTGGTACAGCCAGCTGTTG	0.527													37	61					2.20474e-14	2.79721e-14	1	1	0	T	211093189	G	T	211093189	3	4	81	1	0	0	0	0	1	0	0	0	8075	962	34	4	1734	4	KCNH1	1	211093189	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	296294	211093189	38157432	1381	4997											
RCOR3	55758	broad.mit.edu	37	1	211444642	211444642	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:211444642G>T	ENST00000367005.4	+	2	259	c.118G>T	c.(118-120)Gat>Tat	p.D40Y	RCOR3_ENST00000367006.4_Missense_Mutation_p.D98Y|RCOR3_ENST00000452621.2_Missense_Mutation_p.D98Y|RCOR3_ENST00000419091.2_Missense_Mutation_p.D98Y	NM_018254.3	NP_060724.1	Q9P2K3	RCOR3_HUMAN	REST corepressor 3	40	ELM2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(81;0.00961)|all cancers(67;0.0999)|Epithelial(68;0.171)		CAGTATCCCAGATGCCAAATG	0.358													17	37					1.87028e-06	2.14967e-06	1	1	0	T	211444642	G	T	211444642	3	4	81	1	0	0	0	0	1	0	0	0	13236	942	33	4	302	4	RCOR3	1	211444642	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	351453	211444642	37805979	1382	4998											
TRAF5	7188	broad.mit.edu	37	1	211533282	211533282	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:211533282C>T	ENST00000261464.5	+	5	461	c.407C>T	c.(406-408)cCt>cTt	p.P136L	TRAF5_ENST00000427925.2_Intron|TRAF5_ENST00000367004.3_Missense_Mutation_p.P136L|TRAF5_ENST00000462410.1_3'UTR|TRAF5_ENST00000336184.2_Missense_Mutation_p.P136L	NM_001033910.2	NP_001029082.1	O00463	TRAF5_HUMAN	TNF receptor-associated factor 5	136					apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis	CD40 receptor complex|centrosome|internal side of plasma membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				OV - Ovarian serous cystadenocarcinoma(81;0.00946)|all cancers(67;0.0808)|Epithelial(68;0.144)		TTATTTCAACCTGTGCAGTGT	0.498													24	55					0	0	1	0	0	T	211533282	C	T	211533282	3	4	81	1	0	0	0	0	1	0	0	0	16505	681	24	2	421	2	TRAF5	1	211533282	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	88640	211533282	37717339	1383	4999											
SLC30A1	7779	broad.mit.edu	37	1	211749578	211749578	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:211749578G>T	ENST00000367001.4	-	2	805	c.676C>A	c.(676-678)Ctt>Att	p.L226I		NM_021194.2	NP_067017.2	Q9Y6M5	ZNT1_HUMAN	solute carrier family 30 (zinc transporter), member 1	226					cadmium ion transmembrane transport|cellular calcium ion homeostasis|cellular zinc ion homeostasis|negative regulation of calcium ion import|negative regulation of neurotransmitter secretion|negative regulation of zinc ion import	integral to membrane|T-tubule	calcium channel inhibitor activity|zinc ion transmembrane transporter activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(1)|ovary(3)|prostate(1)	11				OV - Ovarian serous cystadenocarcinoma(81;0.00535)|GBM - Glioblastoma multiforme(131;0.051)|all cancers(67;0.0604)|Epithelial(68;0.0978)		TCTCTGACAAGATTTCCATTC	0.388													27	44					3.73808e-20	4.87716e-20	1	1	0	T	211749578	G	T	211749578	3	4	81	1	0	0	0	0	1	0	0	0	14608	942	33	4	851	4	SLC30A1	1	211749578	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	216296	211749578	37501043	1384	5000											
INTS7	25896	broad.mit.edu	37	1	212141864	212141864	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:212141864G>T	ENST00000366994.3	-	14	2105	c.2001C>A	c.(1999-2001)atC>atA	p.I667I	INTS7_ENST00000366993.3_Silent_p.I667I|INTS7_ENST00000440600.2_Silent_p.I618I|INTS7_ENST00000469606.1_5'UTR|INTS7_ENST00000366992.3_Silent_p.I667I	NM_001199811.1|NM_001199812.1|NM_015434.3	NP_001186740.1|NP_001186741.1|NP_056249.1	Q9NVH2	INT7_HUMAN	integrator complex subunit 7	667					snRNA processing	integrator complex	protein binding			NS(1)|breast(1)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852)		CCTGATTGGAGATGCGACCAC	0.383													6	65					8.12818e-05	8.94031e-05	1	1	0	T	212141864	G	T	212141864	2	4	81	1	0	0	0	0	0	0	0	1	7827	932	33	4		4	INTS7	1	212141864	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	392286	212141864	37108757	1385	5001											
DTL	51514	broad.mit.edu	37	1	212254006	212254006	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:212254006G>T	ENST00000366991.4	+	13	1489	c.1175G>T	c.(1174-1176)aGa>aTa	p.R392I	DTL_ENST00000542077.1_Missense_Mutation_p.R350I|DTL_ENST00000475419.1_3'UTR	NM_016448.2	NP_057532.2	Q9NZJ0	DTL_HUMAN	denticleless E3 ubiquitin protein ligase homolog (Drosophila)	392					DNA replication|G2/M transition DNA damage checkpoint|protein monoubiquitination|protein polyubiquitination|response to UV|translesion synthesis|ubiquitin-dependent protein catabolic process	centrosome|Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|nuclear membrane	protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(81;0.00796)|all cancers(67;0.0385)|Epithelial(68;0.102)		CGCTTGAATAGAGGCTTAGAG	0.413													42	203					1.62957e-23	2.14779e-23	1	1	0	T	212254006	G	T	212254006	3	4	81	1	0	0	0	0	1	0	0	0	4813	942	33	4	1225	4	DTL	1	212254006	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	112142	212254006	36996615	1386	5002											
NENF	29937	broad.mit.edu	37	1	212619202	212619202	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:212619202C>A	ENST00000366988.3	+	4	430	c.373C>A	c.(373-375)Ctg>Atg	p.L125M	NENF_ENST00000473900.1_3'UTR	NM_013349.4	NP_037481.1	Q9UMX5	NENF_HUMAN	neudesin neurotrophic factor	125	Cytochrome b5 heme-binding.					extracellular space	heme binding			endometrium(1)|kidney(1)|large_intestine(2)	4				all cancers(67;0.00967)|OV - Ovarian serous cystadenocarcinoma(81;0.0108)|GBM - Glioblastoma multiforme(131;0.0325)|Epithelial(68;0.132)		ACTGGAGGCCCTGGATGAGGT	0.532													18	105					3.32936e-07	3.87413e-07	1	1	0	A	212619202	C	A	212619202	3	1	81	1	0	0	0	0	1	0	0	0	10382	680	24	4	387	4	NENF	1	212619202	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	365196	212619202	36631419	1387	5003											
NSL1	25936	broad.mit.edu	37	1	212964948	212964948	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:212964948C>T	ENST00000366977.3	-	1	176	c.158G>A	c.(157-159)tGc>tAc	p.C53Y	NSL1_ENST00000422588.2_Missense_Mutation_p.C53Y|NSL1_ENST00000366975.6_Missense_Mutation_p.C53Y|NSL1_ENST00000366976.1_Missense_Mutation_p.C53Y|NSL1_ENST00000473995.1_5'UTR	NM_015471.3	NP_056286.3	Q96IY1	NSL1_HUMAN	NSL1, MIS12 kinetochore complex component	53					cell division|chromosome segregation|mitotic prometaphase	cytosol|MIS12/MIND type complex|nucleus	protein binding			breast(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	9				OV - Ovarian serous cystadenocarcinoma(81;0.00597)|all cancers(67;0.00893)|GBM - Glioblastoma multiforme(131;0.0514)|Epithelial(68;0.102)		GAAGCGGCCGCACAGTTGTAG	0.637													86	103					0	0	1	0	0	T	212964948	C	T	212964948	3	4	81	1	0	0	0	0	1	0	0	0	10721	710	25	2	800	2	NSL1	1	212964948	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	345746	212964948	36285673	1388	5004											
C1orf227	149643	broad.mit.edu	37	1	213009370	213009370	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:213009370A>G	ENST00000332912.3	-	2	229	c.122T>C	c.(121-123)gTc>gCc	p.V41A		NM_001024601.2	NP_001019772.1	Q537H7	CA227_HUMAN	chromosome 1 open reading frame 227	41										kidney(1)|large_intestine(1)|lung(1)	3						CAGTAAGCTGACTTGATTGCT	0.443													27	176					0	0	1	0	0	G	213009370	A	G	213009370	3	3	81	1	0	0	0	0	1	0	0	0	2047	275	10	3	182	3	C1orf227	1	213009370	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	44422	213009370	36241251	1389	5005											
RPS6KC1	26750	broad.mit.edu	37	1	213277798	213277798	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:213277798C>T	ENST00000366960.3	+	4	415	c.265C>T	c.(265-267)Cga>Tga	p.R89*	RPS6KC1_ENST00000543354.1_5'UTR|RPS6KC1_ENST00000366959.3_Nonsense_Mutation_p.R77*|RPS6KC1_ENST00000490299.1_3'UTR|RPS6KC1_ENST00000543470.1_5'UTR	NM_012424.3	NP_036556.2	Q96S38	KS6C1_HUMAN	ribosomal protein S6 kinase, 52kDa, polypeptide 1	89	PX.				cell communication|signal transduction	early endosome|membrane	ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity			breast(1)|endometrium(6)|kidney(4)|large_intestine(8)|liver(2)|lung(15)|ovary(3)|prostate(1)|urinary_tract(3)	43				OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)		AATTGTAGGGCGATTTGATGA	0.393													52	46					0	0	1	0	0	T	213277798	C	T	213277798	4	4	81	1	0	0	0	0	0	1	0	0	13710	760	27	1	279	1	RPS6KC1	1	213277798	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	268428	213277798	35972823	1390	5006											
RPS6KC1	26750	broad.mit.edu	37	1	213414375	213414375	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:213414375A>G	ENST00000366960.3	+	11	1706	c.1556A>G	c.(1555-1557)tAt>tGt	p.Y519C	RPS6KC1_ENST00000543354.1_Missense_Mutation_p.Y222C|RPS6KC1_ENST00000366959.3_Missense_Mutation_p.Y507C|RPS6KC1_ENST00000490299.1_3'UTR|RPS6KC1_ENST00000543470.1_Missense_Mutation_p.Y307C	NM_012424.3	NP_036556.2	Q96S38	KS6C1_HUMAN	ribosomal protein S6 kinase, 52kDa, polypeptide 1	519					cell communication|signal transduction	early endosome|membrane	ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity			breast(1)|endometrium(6)|kidney(4)|large_intestine(8)|liver(2)|lung(15)|ovary(3)|prostate(1)|urinary_tract(3)	43				OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)		TGCAATGAATATGGGCAAGAA	0.403													4	42					0	0	1	0	0	G	213414375	A	G	213414375	3	3	81	1	0	0	0	0	1	0	0	0	13710	449	16	3	1598	3	RPS6KC1	1	213414375	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	136577	213414375	35836246	1391	5007											
PROX1	5629	broad.mit.edu	37	1	214171247	214171247	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:214171247G>A	ENST00000366958.4	+	2	1977	c.1369G>A	c.(1369-1371)Gct>Act	p.A457T	PROX1_ENST00000498508.2_Missense_Mutation_p.A457T|PROX1_ENST00000435016.1_Missense_Mutation_p.A457T|PROX1_ENST00000261454.4_Missense_Mutation_p.A457T	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN	prospero homeobox 1	457				PAA -> LV (in Ref. 1; AAC50656).	aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		CGGCCCTGCCGCTGGCGGCCA	0.642													9	86					0	0	1	0	0	A	214171247	G	A	214171247	3	1	81	1	0	0	0	0	1	0	0	0	12612	1087	38	1	1371	1	PROX1	1	214171247	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	756872	214171247	35079374	1392	5008											
PROX1	5629	broad.mit.edu	37	1	214171370	214171370	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:214171370G>T	ENST00000366958.4	+	2	2100	c.1492G>T	c.(1492-1494)Ggt>Tgt	p.G498C	PROX1_ENST00000498508.2_Missense_Mutation_p.G498C|PROX1_ENST00000435016.1_Missense_Mutation_p.G498C|PROX1_ENST00000261454.4_Missense_Mutation_p.G498C	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN	prospero homeobox 1	498					aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		GAGCCCATTAGGTGCTCCCTC	0.562													6	112					3.59834e-05	3.99423e-05	1	1	0	T	214171370	G	T	214171370	3	4	81	1	0	0	0	0	1	0	0	0	12612	1000	35	4	1494	4	PROX1	1	214171370	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	123	214171370	35079251	1393	5009											
PTPN14	5784	broad.mit.edu	37	1	214546151	214546151	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:214546151A>G	ENST00000366956.5	-	16	3133	c.2939T>C	c.(2938-2940)aTa>aCa	p.I980T	PTPN14_ENST00000543945.1_3'UTR	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14	980	Tyrosine-protein phosphatase.				lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding			NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		CTGGGTGGCTATGTAGTGCCA	0.542													22	42					0	0	1	0	0	G	214546151	A	G	214546151	3	3	81	1	0	0	0	0	1	0	0	0	12833	449	16	3	640	3	PTPN14	1	214546151	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	374781	214546151	34704470	1394	5010											
PTPN14	5784	broad.mit.edu	37	1	214556744	214556744	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:214556744C>A	ENST00000366956.5	-	13	2648	c.2454G>T	c.(2452-2454)gaG>gaT	p.E818D	PTPN14_ENST00000543945.1_3'UTR	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14	818					lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding			NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		TTTTGACCCGCTCCTTCACAC	0.552													11	74					6.40141e-05	7.07494e-05	1	1	0	A	214556744	C	A	214556744	3	1	81	1	0	0	0	0	1	0	0	0	12833	796	28	4	1137	4	PTPN14	1	214556744	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	10593	214556744	34693877	1395	5011											
PTPN14	5784	broad.mit.edu	37	1	214557133	214557133	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:214557133G>A	ENST00000366956.5	-	13	2259	c.2065C>T	c.(2065-2067)Ctc>Ttc	p.L689F	PTPN14_ENST00000543945.1_3'UTR	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14	689					lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding			NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		TACTGAGGGAGCTGGGGGACC	0.632													25	23					0	0	1	0	0	A	214557133	G	A	214557133	3	1	81	1	0	0	0	0	1	0	0	0	12833	971	34	2	1526	2	PTPN14	1	214557133	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	389	214557133	34693488	1396	5012											
PTPN14	5784	broad.mit.edu	37	1	214576228	214576228	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:214576228G>A	ENST00000366956.5	-	6	773	c.579C>T	c.(577-579)caC>caT	p.H193H	PTPN14_ENST00000543945.1_Silent_p.H193H	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14	193	FERM.				lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding			NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		TGCCTTACCTGTGGGCTTTGT	0.532													16	150					0	0	1	0	0	A	214576228	G	A	214576228	2	1	81	1	0	0	0	0	0	0	0	1	12833	1368	48	2		2	PTPN14	1	214576228	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	19095	214576228	34674393	1397	5013											
CENPF	1063	broad.mit.edu	37	1	214791928	214791928	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:214791928G>T	ENST00000366955.3	+	4	540	c.372G>T	c.(370-372)gaG>gaT	p.E124D		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	124	Interaction with SNAP25 and required for localization to the cytoplasm (By similarity).				cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		GTAAATCTGAGCTTGAAAGAA	0.403													46	53					9.52127e-25	1.25784e-24	1	1	0	T	214791928	G	T	214791928	3	4	81	1	0	0	0	0	1	0	0	0	3253	962	34	4	382	4	CENPF	1	214791928	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	215700	214791928	34458693	1398	5014											
CENPF	1063	broad.mit.edu	37	1	214794038	214794038	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:214794038G>A	ENST00000366955.3	+	6	782	c.614G>A	c.(613-615)cGc>cAc	p.R205H		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	205	Interaction with SNAP25 and required for localization to the cytoplasm (By similarity).				cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		ATGAATCACCGCGACATTGCC	0.428													29	136					0	0	1	0	0	A	214794038	G	A	214794038	3	1	81	1	0	0	0	0	1	0	0	0	3253	1087	38	1	632	1	CENPF	1	214794038	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2110	214794038	34456583	1399	5015											
CENPF	1063	broad.mit.edu	37	1	214811346	214811346	+	Splice_Site	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:214811346T>C	ENST00000366955.3	+	11	1750		c.e11+2			NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa						cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		AAATGAAAGGTAAGTAAACTT	0.388													27	44					0	0	1	0	0	C	214811346	T	C	214811346	5	2	81	1	0	0	0	0	0	0	1	0	3253	1652	57	3	1622	3	CENPF	1	214811346	Splice_Site	SNP	T	TCGA-DU-6392-01A-11D-1705-08	17308	214811346	34439275	1400	5016											
KCTD3	51133	broad.mit.edu	37	1	215793456	215793456	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:215793456G>A	ENST00000259154.4	+	18	2238	c.1944G>A	c.(1942-1944)agG>agA	p.R648R	KCTD3_ENST00000495537.1_3'UTR	NM_016121.3	NP_057205.2	Q9Y597	KCTD3_HUMAN	potassium channel tetramerization domain containing 3	648						voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			breast(4)|endometrium(2)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)	33				all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13)		GTTCCATGAGGCCTTACAGAG	0.403													26	31					0	0	1	0	0	A	215793456	G	A	215793456	2	1	81	1	0	0	0	0	0	0	0	1	8154	1194	42	2		2	KCTD3	1	215793456	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	982110	215793456	33457165	1401	5017											
USH2A	7399	broad.mit.edu	37	1	215802181	215802181	+	Missense_Mutation	SNP	G	G	A	rs146892520	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:215802181G>A	ENST00000366943.2	-	72	15952	c.15566C>T	c.(15565-15567)gCc>gTc	p.A5189V	USH2A_ENST00000307340.3_Missense_Mutation_p.A5165V			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	5165					maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GCCCATGATGGCTTCCCACAG	0.493										HNSCC(13;0.011)			32	63					0	0	1	0	0	A	215802181	G	A	215802181	3	1	81	1	0	0	0	0	1	0	0	0	17096	1203	42	2	122	2	USH2A	1	215802181	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	8725	215802181	33448440	1402	5018											
USH2A	7399	broad.mit.edu	37	1	215844346	215844346	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:215844346C>T	ENST00000366943.2	-	64	14487	c.14101G>A	c.(14101-14103)Gaa>Aaa	p.E4701K	USH2A_ENST00000307340.3_Missense_Mutation_p.E4701K			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4701	Fibronectin type-III 32.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	p.E4701K(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GGCAATAGTTCGGAATCTATA	0.363										HNSCC(13;0.011)			56	114					0	0	1	0	0	T	215844346	C	T	215844346	3	4	81	1	0	0	0	0	1	0	0	0	17096	893	31	1	1543	1	USH2A	1	215844346	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	42165	215844346	33406275	1403	5019											
USH2A	7399	broad.mit.edu	37	1	215847889	215847889	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:215847889G>A	ENST00000366943.2	-	63	13750	c.13364C>T	c.(13363-13365)aCa>aTa	p.T4455I	USH2A_ENST00000307340.3_Missense_Mutation_p.T4455I			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4455	Fibronectin type-III 30.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TTCTGAGCCTGTGACTTGCAA	0.468										HNSCC(13;0.011)			17	72					0	0	1	0	0	A	215847889	G	A	215847889	3	1	81	1	0	0	0	0	1	0	0	0	17096	1377	48	2	2284	2	USH2A	1	215847889	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	3543	215847889	33402732	1404	5020											
USH2A	7399	broad.mit.edu	37	1	215956253	215956253	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:215956253G>A	ENST00000366943.2	-	53	10798	c.10412C>T	c.(10411-10413)aCa>aTa	p.T3471I	USH2A_ENST00000307340.3_Missense_Mutation_p.T3471I			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3471	Fibronectin type-III 19.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GTACTCATATGTCATGTAGGG	0.408										HNSCC(13;0.011)			24	28					0	0	1	0	0	A	215956253	G	A	215956253	3	1	81	1	0	0	0	0	1	0	0	0	17096	1377	48	2	5276	2	USH2A	1	215956253	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	108364	215956253	33294368	1405	5021											
USH2A	7399	broad.mit.edu	37	1	216052354	216052354	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:216052354A>G	ENST00000366943.2	-	42	8696	c.8310T>C	c.(8308-8310)aaT>aaC	p.N2770N	USH2A_ENST00000307340.3_Silent_p.N2770N			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2770	Fibronectin type-III 14.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CGGAAGTCACATTGGTTAAAG	0.428										HNSCC(13;0.011)			11	139					0	0	1	0	0	G	216052354	A	G	216052354	2	3	81	1	0	0	0	0	0	0	0	1	17096	214	8	3		3	USH2A	1	216052354	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	96101	216052354	33198267	1406	5022											
USH2A	7399	broad.mit.edu	37	1	216061838	216061838	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:216061838G>A	ENST00000366943.2	-	41	8539	c.8153C>T	c.(8152-8154)aCc>aTc	p.T2718I	USH2A_ENST00000307340.3_Missense_Mutation_p.T2718I|RP5-1111A8.3_ENST00000414995.1_RNA			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2718	Fibronectin type-III 13.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GGGTCTTGTGGTAACTTCTAC	0.507										HNSCC(13;0.011)			17	23					0	0	1	0	0	A	216061838	G	A	216061838	3	1	81	1	0	0	0	0	1	0	0	0	17096	1261	44	2	7583	2	USH2A	1	216061838	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	9484	216061838	33188783	1407	5023											
USH2A	7399	broad.mit.edu	37	1	216108117	216108117	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:216108117G>T	ENST00000366943.2	-	38	7527	c.7141C>A	c.(7141-7143)Ctg>Atg	p.L2381M	USH2A_ENST00000307340.3_Missense_Mutation_p.L2381M			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2381	Fibronectin type-III 10.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GTGACATTCAGAAGGGTGTAG	0.323										HNSCC(13;0.011)			12	75					0.00010058	0.000110448	1	1	0	T	216108117	G	T	216108117	3	4	81	1	0	0	0	0	1	0	0	0	17096	933	33	4	8607	4	USH2A	1	216108117	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	46279	216108117	33142504	1408	5024											
USH2A	7399	broad.mit.edu	37	1	216166438	216166438	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:216166438G>A	ENST00000366943.2	-	35	7115	c.6729C>T	c.(6727-6729)ggC>ggT	p.G2243G	USH2A_ENST00000307340.3_Silent_p.G2243G			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2243	Fibronectin type-III 9.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	p.G2243G(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GGGCTGGCACGCCTTCGGGTA	0.507										HNSCC(13;0.011)	OREG0014251	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	41	162					0	0	1	0	0	A	216166438	G	A	216166438	2	1	81	1	0	0	0	0	0	0	0	1	17096	1074	38	1		1	USH2A	1	216166438	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	58321	216166438	33084183	1409	5025											
USH2A	7399	broad.mit.edu	37	1	216419934	216419934	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:216419934A>G	ENST00000366943.2	-	13	3188	c.2802T>C	c.(2800-2802)tgT>tgC	p.C934C	USH2A_ENST00000366942.3_Silent_p.C934C|USH2A_ENST00000307340.3_Silent_p.C934C			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	934	Laminin EGF-like 8.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TACCTGGTTGACACTGATTAC	0.433										HNSCC(13;0.011)			38	40					0	0	1	0	0	G	216419934	A	G	216419934	2	3	81	1	0	0	0	0	0	0	0	1	17096	273	10	3		3	USH2A	1	216419934	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	253496	216419934	32830687	1410	5026											
USH2A	7399	broad.mit.edu	37	1	216496819	216496819	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:216496819C>T	ENST00000366943.2	-	8	1933	c.1547G>A	c.(1546-1548)gGg>gAg	p.G516E	USH2A_ENST00000366942.3_Missense_Mutation_p.G516E|USH2A_ENST00000307340.3_Missense_Mutation_p.G516E			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	516	Laminin N-terminal.		G -> V (in USH2A; uncertain pathogenicity).		maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ATAATACCTCCCACTAATGGT	0.368										HNSCC(13;0.011)			29	53					0	0	1	0	0	T	216496819	C	T	216496819	3	4	81	1	0	0	0	0	1	0	0	0	17096	623	22	2	14335	2	USH2A	1	216496819	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	76885	216496819	32753802	1411	5027											
ESRRG	2104	broad.mit.edu	37	1	216692559	216692559	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:216692559T>C	ENST00000391890.3	-	8	1536	c.1019A>G	c.(1018-1020)tAc>tGc	p.Y340C	ESRRG_ENST00000361525.3_Missense_Mutation_p.Y333C|ESRRG_ENST00000366937.1_Missense_Mutation_p.Y368C|ESRRG_ENST00000361395.2_Missense_Mutation_p.Y333C|ESRRG_ENST00000360012.3_Missense_Mutation_p.Y333C|ESRRG_ENST00000487276.1_Missense_Mutation_p.Y333C|ESRRG_ENST00000463665.1_Missense_Mutation_p.Y294C|ESRRG_ENST00000408911.3_Missense_Mutation_p.Y356C|ESRRG_ENST00000366938.2_Missense_Mutation_p.Y333C|ESRRG_ENST00000493603.1_Missense_Mutation_p.Y333C|ESRRG_ENST00000366940.2_Missense_Mutation_p.Y333C|ESRRG_ENST00000359162.2_Missense_Mutation_p.Y333C|ESRRG_ENST00000493748.1_Missense_Mutation_p.Y333C	NM_001243515.1|NM_001243519.1	NP_001230444.1|NP_001230448.1	P62508	ERR3_HUMAN	estrogen-related receptor gamma	356					positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	AF-2 domain binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(29)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	Diethylstilbestrol(DB00255)	CATGCTCTTGTATTTCTTTAC	0.378													24	48					0	0	1	0	0	C	216692559	T	C	216692559	3	2	81	1	0	0	0	0	1	0	0	0	5290	1638	57	3	317	3	ESRRG	1	216692559	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	195740	216692559	32558062	1412	5028											
ESRRG	2104	broad.mit.edu	37	1	216824353	216824353	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:216824353C>T	ENST00000391890.3	-	5	999	c.482G>A	c.(481-483)cGc>cAc	p.R161H	ESRRG_ENST00000361525.3_Missense_Mutation_p.R161H|ESRRG_ENST00000366937.1_Missense_Mutation_p.R189H|ESRRG_ENST00000361395.2_Missense_Mutation_p.R161H|ESRRG_ENST00000360012.3_Missense_Mutation_p.R161H|ESRRG_ENST00000487276.1_Missense_Mutation_p.R161H|ESRRG_ENST00000463665.1_Intron|ESRRG_ENST00000408911.3_Missense_Mutation_p.R184H|ESRRG_ENST00000366938.2_Missense_Mutation_p.R161H|ESRRG_ENST00000493603.1_Missense_Mutation_p.R161H|ESRRG_ENST00000366940.2_Missense_Mutation_p.R161H|ESRRG_ENST00000359162.2_Missense_Mutation_p.R161H|ESRRG_ENST00000493748.1_Missense_Mutation_p.R161H	NM_001243515.1|NM_001243519.1	NP_001230444.1|NP_001230448.1	P62508	ERR3_HUMAN	estrogen-related receptor gamma	184					positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	AF-2 domain binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(29)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	Diethylstilbestrol(DB00255)	CTTCATGAAGCGGCAAGCCTG	0.448													40	61					0	0	1	0	0	T	216824353	C	T	216824353	3	4	81	1	0	0	0	0	1	0	0	0	5290	768	27	1	845	1	ESRRG	1	216824353	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	131794	216824353	32426268	1413	5029											
GPATCH2	55105	broad.mit.edu	37	1	217793349	217793349	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:217793349C>T	ENST00000366935.3	-	2	659	c.549G>A	c.(547-549)caG>caA	p.Q183Q	GPATCH2_ENST00000366934.3_Silent_p.Q183Q	NM_018040.2	NP_060510.1	Q9NW75	GPTC2_HUMAN	G patch domain containing 2	183						intracellular	nucleic acid binding			NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)	35				OV - Ovarian serous cystadenocarcinoma(81;0.0397)|all cancers(67;0.0744)|GBM - Glioblastoma multiforme(131;0.0872)		CCTCAGGTGGCTGGGTCATTG	0.433													75	71					0	0	1	0	0	T	217793349	C	T	217793349	2	4	81	1	0	0	0	0	0	0	0	1	6631	796	28	2		2	GPATCH2	1	217793349	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	968996	217793349	31457272	1414	5030											
SPATA17	128153	broad.mit.edu	37	1	217975157	217975157	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:217975157C>T	ENST00000366933.4	+	9	1025	c.970C>T	c.(970-972)Cga>Tga	p.R324*	SPATA17_ENST00000471021.1_3'UTR	NM_138796.2	NP_620151.1	Q96L03	SPT17_HUMAN	spermatogenesis associated 17	324						cytoplasm	calmodulin binding			endometrium(1)|kidney(1)|large_intestine(9)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(81;0.0516)|all cancers(67;0.0891)|GBM - Glioblastoma multiforme(131;0.117)		AGAACAATTCCGAAGTGAAAA	0.294													8	28					0	0	1	0	0	T	217975157	C	T	217975157	4	4	81	1	0	0	0	0	0	1	0	0	15058	644	23	1	1004	1	SPATA17	1	217975157	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	181808	217975157	31275464	1415	5031											
TGFB2	7042	broad.mit.edu	37	1	218609474	218609474	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:218609474C>T	ENST00000366929.4	+	6	1468	c.1001C>T	c.(1000-1002)gCg>gTg	p.A334V	TGFB2_ENST00000366930.4_Missense_Mutation_p.A306V|TGFB2_ENST00000479322.1_3'UTR	NM_001135599.2	NP_001129071.1	P61812	TGFB2_HUMAN	transforming growth factor, beta 2	306					activation of protein kinase activity|angiogenesis|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cardioblast differentiation|catagen|cell cycle arrest|cell death|cell growth|cell-cell junction organization|cell-cell signaling|collagen fibril organization|dopamine biosynthetic process|embryonic digestive tract development|eye development|glial cell migration|hair follicle morphogenesis|hemopoiesis|menstrual cycle phase|negative regulation of alkaline phosphatase activity|negative regulation of cell growth|negative regulation of epithelial cell proliferation|negative regulation of immune response|negative regulation of macrophage cytokine production|neuron development|neutrophil chemotaxis|odontogenesis|pathway-restricted SMAD protein phosphorylation|platelet activation|platelet degranulation|positive regulation of cardioblast differentiation|positive regulation of catagen|positive regulation of cell adhesion mediated by integrin|positive regulation of cell cycle|positive regulation of cell division|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of epithelial cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of heart contraction|positive regulation of immune response|positive regulation of integrin biosynthetic process|positive regulation of neuron apoptosis|positive regulation of ossification|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein secretion|positive regulation of stress-activated MAPK cascade|regulation of transforming growth factor-beta2 production|response to hypoxia|response to progesterone stimulus|salivary gland morphogenesis|SMAD protein import into nucleus|somatic stem cell division|transforming growth factor beta receptor signaling pathway	axon|extracellular matrix|extracellular space|neuronal cell body|platelet alpha granule lumen	beta-amyloid binding|cytokine activity|growth factor activity|protein heterodimerization activity|protein homodimerization activity|receptor signaling protein serine/threonine kinase activity|type II transforming growth factor beta receptor binding			breast(1)|endometrium(1)|large_intestine(11)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(1)	31				all cancers(67;0.0459)|OV - Ovarian serous cystadenocarcinoma(81;0.049)|GBM - Glioblastoma multiforme(131;0.0776)		GCTTTGGATGCGGCCTATTGC	0.438													39	37					0	0	1	0	0	T	218609474	C	T	218609474	3	4	81	1	0	0	0	0	1	0	0	0	15878	768	27	1	1023	1	TGFB2	1	218609474	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	634317	218609474	30641147	1416	5032											
EPRS	2058	broad.mit.edu	37	1	220179606	220179606	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:220179606T>G	ENST00000366923.3	-	15	2061	c.1792A>C	c.(1792-1794)Aac>Cac	p.N598H		NM_004446.2	NP_004437.2	P07814	SYEP_HUMAN	glutamyl-prolyl-tRNA synthetase	598	Glutamyl-tRNA synthetase.				glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly	cytosol|soluble fraction	ATP binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding|RNA binding			breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3)	63				GBM - Glioblastoma multiforme(131;0.0735)	L-Glutamic Acid(DB00142)|L-Proline(DB00172)	TAGTCTTTGTTTTCCAAATTC	0.353													10	87					0	0	1	0	0	G	220179606	T	G	220179606	3	3	81	1	0	0	0	0	1	0	0	0	5219	1841	64	5	2818	5	EPRS	1	220179606	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	1570132	220179606	29071015	1417	5033											
EPRS	2058	broad.mit.edu	37	1	220206995	220206995	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:220206995A>G	ENST00000366923.3	-	4	506	c.237T>C	c.(235-237)gaT>gaC	p.D79D		NM_004446.2	NP_004437.2	P07814	SYEP_HUMAN	glutamyl-prolyl-tRNA synthetase	79					glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly	cytosol|soluble fraction	ATP binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding|RNA binding			breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3)	63				GBM - Glioblastoma multiforme(131;0.0735)	L-Glutamic Acid(DB00142)|L-Proline(DB00172)	CCAACCAGTGATCAATCTGTC	0.318													29	47					0	0	1	0	0	G	220206995	A	G	220206995	2	3	81	1	0	0	0	0	0	0	0	1	5219	330	12	3		3	EPRS	1	220206995	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	27389	220206995	29043626	1418	5034											
BPNT1	10380	broad.mit.edu	37	1	220246296	220246296	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:220246296G>T	ENST00000469520.2	-	5	678	c.229C>A	c.(229-231)Ctg>Atg	p.L77M	BPNT1_ENST00000414869.2_Intron|BPNT1_ENST00000544404.1_Missense_Mutation_p.L22M|BPNT1_ENST00000354807.3_Missense_Mutation_p.L77M|BPNT1_ENST00000482136.1_Intron|BPNT1_ENST00000322067.7_Missense_Mutation_p.L77M			O95861	BPNT1_HUMAN	3'(2'), 5'-bisphosphate nucleotidase 1	77					3'-phosphoadenosine 5'-phosphosulfate metabolic process|nervous system development|xenobiotic metabolic process	cytosol	3'(2'),5'-bisphosphate nucleotidase activity			breast(1)|endometrium(1)|large_intestine(1)|lung(9)|ovary(1)|skin(1)	14				GBM - Glioblastoma multiforme(131;0.0558)		TCAGAAGGCAGATCCTAAAGC	0.413													10	116					1.76689e-08	2.10148e-08	1	1	0	T	220246296	G	T	220246296	3	4	81	1	0	0	0	0	1	0	0	0	1496	933	33	4	721	4	BPNT1	1	220246296	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	39301	220246296	29004325	1419	5035											
IARS2	55699	broad.mit.edu	37	1	220320874	220320874	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:220320874T>G	ENST00000366922.1	+	23	3051	c.2720T>G	c.(2719-2721)gTc>gGc	p.V907G	IARS2_ENST00000302637.5_Missense_Mutation_p.V979G			Q9NSE4	SYIM_HUMAN	isoleucyl-tRNA synthetase 2, mitochondrial	979				I -> T (in Ref. 6; BAB14164).	isoleucyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|isoleucine-tRNA ligase activity			NS(1)|breast(1)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(17)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51				GBM - Glioblastoma multiforme(131;0.0554)	L-Isoleucine(DB00167)	AAAGTAATTGTCATGCCGACT	0.388													20	61					0	0	1	0	0	G	220320874	T	G	220320874	3	3	81	1	0	0	0	0	1	0	0	0	7518	1667	58	5	3026	5	IARS2	1	220320874	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	74578	220320874	28929747	1420	5036											
RAB3GAP2	25782	broad.mit.edu	37	1	220356155	220356155	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:220356155C>A	ENST00000358951.2	-	20	2233	c.2117G>T	c.(2116-2118)gGt>gTt	p.G706V		NM_012414.3	NP_036546.2	Q9H2M9	RBGPR_HUMAN	RAB3 GTPase activating protein subunit 2 (non-catalytic)	706					intracellular protein transport	cytoplasm|soluble fraction	GTPase activator activity|protein heterodimerization activity			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(131;0.0443)		AGGCAACACACCATCTTTATC	0.353													6	77					0.0293803	0.0300537	1	1	0	A	220356155	C	A	220356155	3	1	81	1	0	0	0	0	1	0	0	0	12988	507	18	5	2128	5	RAB3GAP2	1	220356155	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	35281	220356155	28894466	1421	5037											
MARK1	4139	broad.mit.edu	37	1	220804430	220804430	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:220804430G>A	ENST00000402574.1	+	10	1560	c.558G>A	c.(556-558)aaG>aaA	p.K186K	MARK1_ENST00000366917.4_Silent_p.K321K|MARK1_ENST00000366918.4_Silent_p.K299K	NM_018650.3	NP_061120.3	Q9P0L2	MARK1_HUMAN	MAP/microtubule affinity-regulating kinase 1	321	Protein kinase.				intracellular protein kinase cascade	cytoplasm|microtubule cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1)	63				GBM - Glioblastoma multiforme(131;0.0407)		AAGAACTAAAGCCATATACTG	0.378													25	59					0	0	1	0	0	A	220804430	G	A	220804430	2	1	81	1	0	0	0	0	0	0	0	1	9362	962	34	2		2	MARK1	1	220804430	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	448275	220804430	28446191	1422	5038											
HLX	3142	broad.mit.edu	37	1	221057895	221057895	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:221057895C>T	ENST00000366903.6	+	4	2817	c.1316C>T	c.(1315-1317)gCc>gTc	p.A439V	HLX_ENST00000549319.1_Missense_Mutation_p.A225V	NM_021958.3	NP_068777.1	Q14774	HLX_HUMAN	H2.0-like homeobox	439	Ser-rich.				cell differentiation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(9)|lung(11)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(131;0.00914)		ttcagcagcgccagcagtctt	0.662													5	6					0	0	1	0	0	T	221057895	C	T	221057895	3	4	81	1	0	0	0	0	1	0	0	0	7257	739	26	2	1330	2	HLX	1	221057895	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	253465	221057895	28192726	1423	5039											
DUSP10	11221	broad.mit.edu	37	1	221879454	221879454	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:221879454T>A	ENST00000366899.3	-	3	1404	c.1166A>T	c.(1165-1167)gAg>gTg	p.E389V	DUSP10_ENST00000323825.3_Missense_Mutation_p.E47V|DUSP10_ENST00000544095.1_Missense_Mutation_p.E47V|DUSP10_ENST00000468085.1_5'UTR	NM_007207.4	NP_009138.1	Q9Y6W6	DUS10_HUMAN	dual specificity phosphatase 10	389	Tyrosine-protein phosphatase.				inactivation of MAPK activity|JNK cascade|negative regulation of JNK cascade|negative regulation of JUN kinase activity|negative regulation of stress-activated MAPK cascade	Golgi apparatus|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			NS(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				GBM - Glioblastoma multiforme(131;0.0103)		CTCAAAAGCCTCTTCAAAGTA	0.468													5	114					0	0	1	0	0	A	221879454	T	A	221879454	3	1	81	1	0	0	0	0	1	0	0	0	4836	1551	54	5	290	5	DUSP10	1	221879454	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	821559	221879454	27371167	1424	5040											
HHIPL2	79802	broad.mit.edu	37	1	222713568	222713568	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:222713568C>T	ENST00000343410.6	-	4	1292	c.1234G>A	c.(1234-1236)Gcc>Acc	p.A412T		NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN	HHIP-like 2	412					carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding			NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		GCATAGATGGCGGGGTGGGCC	0.587													29	41					0	0	1	0	0	T	222713568	C	T	222713568	3	4	81	1	0	0	0	0	1	0	0	0	7135	768	27	1	964	1	HHIPL2	1	222713568	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	834114	222713568	26537053	1425	5041											
TAF1A	9015	broad.mit.edu	37	1	222753158	222753158	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:222753158C>A	ENST00000350027.4	-	4	501	c.348G>T	c.(346-348)gaG>gaT	p.E116D	TAF1A_ENST00000391882.1_Missense_Mutation_p.E2D|TAF1A_ENST00000366890.1_Missense_Mutation_p.E2D|TAF1A_ENST00000352967.4_Missense_Mutation_p.E116D|TAF1A_ENST00000465263.1_5'UTR|TAF1A_ENST00000543857.1_Missense_Mutation_p.E116D	NM_001201536.1	NP_001188465.1	Q15573	TAF1A_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, A, 48kDa	116					regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter	RNA polymerase I transcription factor complex	DNA binding			kidney(3)|large_intestine(3)|lung(11)|urinary_tract(1)	18				GBM - Glioblastoma multiforme(131;0.0186)		TATTGAAACTCTCCATGTTGC	0.328													48	78					3.86361e-14	4.89604e-14	1	1	0	A	222753158	C	A	222753158	3	1	81	1	0	0	0	0	1	0	0	0	15576	912	32	4	1036	4	TAF1A	1	222753158	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	39590	222753158	26497463	1426	5042											
TAF1A	9015	broad.mit.edu	37	1	222757525	222757525	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:222757525C>A	ENST00000350027.4	-	3	389	c.236G>T	c.(235-237)aGt>aTt	p.S79I	TAF1A_ENST00000391882.1_Intron|TAF1A_ENST00000366890.1_Intron|TAF1A_ENST00000352967.4_Missense_Mutation_p.S79I|TAF1A_ENST00000465263.1_5'UTR|TAF1A_ENST00000543857.1_Missense_Mutation_p.S79I	NM_001201536.1	NP_001188465.1	Q15573	TAF1A_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, A, 48kDa	79					regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter	RNA polymerase I transcription factor complex	DNA binding			kidney(3)|large_intestine(3)|lung(11)|urinary_tract(1)	18				GBM - Glioblastoma multiforme(131;0.0186)		CTGAAAATAACTGTACATGTA	0.408													8	185					0.000274275	0.000297259	1	1	0	A	222757525	C	A	222757525	3	1	81	1	0	0	0	0	1	0	0	0	15576	565	20	4	1152	4	TAF1A	1	222757525	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	4367	222757525	26493096	1427	5043											
MIA3	375056	broad.mit.edu	37	1	222801943	222801943	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:222801943G>A	ENST00000344922.5	+	4	1406	c.1381G>A	c.(1381-1383)Gaa>Aaa	p.E461K	MIA3_ENST00000344441.6_Missense_Mutation_p.E461K|MIA3_ENST00000344507.1_Missense_Mutation_p.E461K|MIA3_ENST00000470521.1_3'UTR	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	461					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)		AGTAAACGCAGAACATCACAT	0.393													19	121					0	0	1	0	0	A	222801943	G	A	222801943	3	1	81	1	0	0	0	0	1	0	0	0	9614	943	33	2	1395	2	MIA3	1	222801943	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	44418	222801943	26448678	1428	5044											
MIA3	375056	broad.mit.edu	37	1	222802500	222802500	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:222802500C>T	ENST00000344922.5	+	4	1963	c.1938C>T	c.(1936-1938)gaC>gaT	p.D646D	MIA3_ENST00000344441.6_Silent_p.D646D|MIA3_ENST00000344507.1_Intron|MIA3_ENST00000470521.1_3'UTR	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	646					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)		AACTGGAAGACGAGGTTCCCA	0.443													71	88					0	0	1	0	0	T	222802500	C	T	222802500	2	4	81	1	0	0	0	0	0	0	0	1	9614	535	19	1		1	MIA3	1	222802500	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	557	222802500	26448121	1429	5045											
MIA3	375056	broad.mit.edu	37	1	222805573	222805573	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:222805573C>A	ENST00000344922.5	+	5	3261	c.3236C>A	c.(3235-3237)cCt>cAt	p.P1079H	MIA3_ENST00000344441.6_Missense_Mutation_p.P1079H|MIA3_ENST00000344507.1_Intron|MIA3_ENST00000470521.1_3'UTR	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	1079					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)		GTGCAGGTTCCTGAAGAACCC	0.483													14	114					1.05317e-09	1.27674e-09	1	1	0	A	222805573	C	A	222805573	3	1	81	1	0	0	0	0	1	0	0	0	9614	681	24	4	3254	4	MIA3	1	222805573	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3073	222805573	26445048	1430	5046											
MIA3	375056	broad.mit.edu	37	1	222838834	222838834	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:222838834G>A	ENST00000344922.5	+	28	5622	c.5597G>A	c.(5596-5598)gGt>gAt	p.G1866D	MIA3_ENST00000340535.7_Missense_Mutation_p.G744D|MIA3_ENST00000344441.6_Missense_Mutation_p.G1866D|MIA3_ENST00000344507.1_Intron	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	1866	Pro-rich.				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)		CCAACCCATGGTCCCCAGGAA	0.537													17	286					0	0	1	0	0	A	222838834	G	A	222838834	3	1	81	1	0	0	0	0	1	0	0	0	9614	1261	44	2	5707	2	MIA3	1	222838834	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	33261	222838834	26411787	1431	5047											
MIA3	375056	broad.mit.edu	37	1	222838933	222838933	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:222838933G>A	ENST00000344922.5	+	28	5721	c.5696G>A	c.(5695-5697)tGt>tAt	p.C1899Y	MIA3_ENST00000340535.7_Missense_Mutation_p.C777Y|MIA3_ENST00000344441.6_Missense_Mutation_p.C1899Y|MIA3_ENST00000344507.1_Intron	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	1899					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)		AGCCAGGACTGTTCACAGGCT	0.473													13	167					0	0	1	0	0	A	222838933	G	A	222838933	3	1	81	1	0	0	0	0	1	0	0	0	9614	1377	48	2	5806	2	MIA3	1	222838933	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	99	222838933	26411688	1432	5048											
DISP1	84976	broad.mit.edu	37	1	223175814	223175814	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:223175814G>A	ENST00000284476.6	+	8	1239	c.1075G>A	c.(1075-1077)Gcc>Acc	p.A359T		NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	359					diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		AAACTACATCGCCATTCTGAA	0.498											OREG0014268|OREG0026708	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	52	51					0	0	1	0	0	A	223175814	G	A	223175814	3	1	81	1	0	0	0	0	1	0	0	0	4567	1087	38	1	1101	1	DISP1	1	223175814	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	336881	223175814	26074807	1433	5049											
DISP1	84976	broad.mit.edu	37	1	223176061	223176061	+	Missense_Mutation	SNP	C	C	T	rs114523965	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:223176061C>T	ENST00000284476.6	+	8	1486	c.1322C>T	c.(1321-1323)aCg>aTg	p.T441M		NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	441					diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		ACCCCAAAGACGGCTGACTAT	0.458													25	45					0	0	1	0	0	T	223176061	C	T	223176061	3	4	81	1	0	0	0	0	1	0	0	0	4567	536	19	1	1348	1	DISP1	1	223176061	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	247	223176061	26074560	1434	5050											
SUSD4	55061	broad.mit.edu	37	1	223402633	223402633	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:223402633G>A	ENST00000343846.3	-	5	1455	c.822C>T	c.(820-822)tgC>tgT	p.C274C	SUSD4_ENST00000454695.2_Silent_p.C114C|SUSD4_ENST00000366878.4_Silent_p.C274C|SUSD4_ENST00000484758.2_Silent_p.C205C|SUSD4_ENST00000478605.1_Intron|SUSD4_ENST00000494793.2_Silent_p.C274C			Q5VX71	SUSD4_HUMAN	sushi domain containing 4	274	Sushi 4.					integral to membrane				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(131;0.0611)		AGCCAGGATCGCAGTAAAACT	0.512													28	24					0	0	1	0	0	A	223402633	G	A	223402633	2	1	81	1	0	0	0	0	0	0	0	1	15466	1079	38	1		1	SUSD4	1	223402633	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	226572	223402633	25847988	1435	5051											
SUSD4	55061	broad.mit.edu	37	1	223441962	223441962	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:223441962A>G	ENST00000343846.3	-	3	1050	c.417T>C	c.(415-417)caT>caC	p.H139H	SUSD4_ENST00000454695.2_5'UTR|SUSD4_ENST00000344029.6_Silent_p.H139H|SUSD4_ENST00000366878.4_Silent_p.H139H|SUSD4_ENST00000484758.2_Silent_p.H68H|SUSD4_ENST00000478605.1_5'UTR|SUSD4_ENST00000494793.2_Silent_p.H139H			Q5VX71	SUSD4_HUMAN	sushi domain containing 4	139	Sushi 2.					integral to membrane				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(131;0.0611)		GCTTCTCTCCATGTCTATATG	0.378													10	104					0	0	1	0	0	G	223441962	A	G	223441962	2	3	81	1	0	0	0	0	0	0	0	1	15466	214	8	3		3	SUSD4	1	223441962	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	39329	223441962	25808659	1436	5052											
FBXO28	23219	broad.mit.edu	37	1	224340896	224340896	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:224340896C>A	ENST00000366862.5	+	4	612	c.569C>A	c.(568-570)cCt>cAt	p.P190H	FBXO28_ENST00000424254.2_Intron	NM_015176.3	NP_055991.1	Q9NVF7	FBX28_HUMAN	F-box protein 28	190										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(2)|skin(1)	10	Breast(184;0.206)			GBM - Glioblastoma multiforme(131;0.0363)		ACCAGAGCCCCTCAACGAGCT	0.318													25	93					6.32553e-13	7.94418e-13	1	1	0	A	224340896	C	A	224340896	3	1	81	1	0	0	0	0	1	0	0	0	5771	681	24	4	583	4	FBXO28	1	224340896	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	898934	224340896	24909725	1437	5053											
FBXO28	23219	broad.mit.edu	37	1	224345333	224345333	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:224345333C>A	ENST00000366862.5	+	5	1035	c.992C>A	c.(991-993)gCt>gAt	p.A331D	FBXO28_ENST00000424254.2_3'UTR	NM_015176.3	NP_055991.1	Q9NVF7	FBX28_HUMAN	F-box protein 28	331										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(2)|skin(1)	10	Breast(184;0.206)			GBM - Glioblastoma multiforme(131;0.0363)		ATGGAAAGTGCTGTAGGAAAT	0.483													20	103					2.89027e-11	3.57291e-11	1	1	0	A	224345333	C	A	224345333	3	1	81	1	0	0	0	0	1	0	0	0	5771	797	28	4	1010	4	FBXO28	1	224345333	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	4437	224345333	24905288	1438	5054											
DEGS1	8560	broad.mit.edu	37	1	224380147	224380147	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:224380147G>T	ENST00000323699.4	+	3	1105	c.939G>T	c.(937-939)aaG>aaT	p.K313N	DEGS1_ENST00000391877.3_Missense_Mutation_p.K313N	NM_003676.3	NP_003667.1	O15121	DEGS1_HUMAN	delta(4)-desaturase, sphingolipid 1	313					sphingolipid metabolic process|unsaturated fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction	electron carrier activity|protein binding|sphingolipid delta-4 desaturase activity			breast(1)|kidney(3)|large_intestine(2)|lung(4)	10	Breast(184;0.193)			GBM - Glioblastoma multiforme(131;0.00643)		CAAGAATGAAGAGGCACCAAA	0.363													4	36					0.000602214	0.000646338	1	1	0	T	224380147	G	T	224380147	3	4	81	1	0	0	0	0	1	0	0	0	4450	933	33	4	949	4	DEGS1	1	224380147	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	34814	224380147	24870474	1439	5055											
NVL	4931	broad.mit.edu	37	1	224477369	224477369	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:224477369G>A	ENST00000281701.6	-	13	1651	c.1392C>T	c.(1390-1392)caC>caT	p.H464H	NVL_ENST00000482491.1_Silent_p.H188H|NVL_ENST00000340871.4_Silent_p.H275H|NVL_ENST00000391875.2_Silent_p.H358H|NVL_ENST00000361463.3_Silent_p.H358H|NVL_ENST00000469075.1_Silent_p.H373H	NM_002533.3	NP_002524.2	O15381	NVL_HUMAN	nuclear VCP-like	464						aggresome|cytoplasm|nucleolus	ATP binding|nucleoside-triphosphatase activity			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|prostate(1)|skin(4)|soft_tissue(1)|urinary_tract(1)	42				GBM - Glioblastoma multiforme(131;0.00501)		CTGGAGTTAGGTGTGCTAAGT	0.433													18	34					0	0	1	0	0	A	224477369	G	A	224477369	2	1	81	1	0	0	0	0	0	0	0	1	10828	1252	44	2		2	NVL	1	224477369	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	97222	224477369	24773252	1440	5056											
CNIH4	29097	broad.mit.edu	37	1	224553644	224553644	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:224553644T>C	ENST00000465271.1	+	3	277	c.202T>C	c.(202-204)Tgg>Cgg	p.W68R	CNIH4_ENST00000366856.3_Missense_Mutation_p.W68R|CNIH4_ENST00000468318.1_3'UTR|CNIH4_ENST00000366858.3_Missense_Mutation_p.W68R|CNIH4_ENST00000366857.5_Missense_Mutation_p.W68R	NM_014184.3	NP_054903.1	Q9P003	CNIH4_HUMAN	cornichon family AMPA receptor auxiliary protein 4	68					intracellular signal transduction	endoplasmic reticulum|integral to membrane	protein binding			kidney(3)|lung(2)|ovary(2)	7				GBM - Glioblastoma multiforme(131;0.00341)		GTCATTGCACTGGTTCATCTT	0.368													5	149					0	0	1	0	0	C	224553644	T	C	224553644	3	2	81	1	0	0	0	0	1	0	0	0	3628	1580	55	3	212	3	CNIH4	1	224553644	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	76275	224553644	24696977	1441	5057											
CNIH3	149111	broad.mit.edu	37	1	224872497	224872497	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:224872497G>A	ENST00000272133.3	+	3	1032		c.e3-1			NM_152495.1	NP_689708.1	Q8TBE1	CNIH3_HUMAN	cornichon family AMPA receptor auxiliary protein 3						intracellular signal transduction|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic shaft|postsynaptic membrane				large_intestine(5)|lung(4)	9	Breast(184;0.218)			GBM - Glioblastoma multiforme(131;0.073)		CATCCTGATAGAGGGAACGGT	0.542													29	56					0	0	1	0	0	A	224872497	G	A	224872497	5	1	81	1	0	0	0	0	0	0	1	0	3627	956	33	2	160	2	CNIH3	1	224872497	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	318853	224872497	24378124	1442	5058											
EPHX1	2052	broad.mit.edu	37	1	226026412	226026412	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:226026412C>T	ENST00000366837.4	+	4	618	c.422C>T	c.(421-423)cCg>cTg	p.P141L	EPHX1_ENST00000272167.5_Missense_Mutation_p.P141L	NM_000120.3	NP_000111.1	P07099	HYEP_HUMAN	epoxide hydrolase 1, microsomal (xenobiotic)	141					aromatic compound catabolic process|response to toxin	endoplasmic reticulum membrane|integral to membrane|microsome	cis-stilbene-oxide hydrolase activity|epoxide hydrolase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	28	Breast(184;0.197)					GGCCATACCCCGAAGCCCTTG	0.602													34	104					0	0	1	0	0	T	226026412	C	T	226026412	3	4	81	1	0	0	0	0	1	0	0	0	5207	652	23	1	432	1	EPHX1	1	226026412	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1153915	226026412	23224209	1443	5059											
EPHX1	2052	broad.mit.edu	37	1	226026435	226026435	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:226026435G>A	ENST00000366837.4	+	4	641	c.445G>A	c.(445-447)Ggc>Agc	p.G149S	EPHX1_ENST00000272167.5_Missense_Mutation_p.G149S	NM_000120.3	NP_000111.1	P07099	HYEP_HUMAN	epoxide hydrolase 1, microsomal (xenobiotic)	149					aromatic compound catabolic process|response to toxin	endoplasmic reticulum membrane|integral to membrane|microsome	cis-stilbene-oxide hydrolase activity|epoxide hydrolase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	28	Breast(184;0.197)					GATGGTGCACGGCTGGCCCGG	0.582													73	55					0	0	1	0	0	A	226026435	G	A	226026435	3	1	81	1	0	0	0	0	1	0	0	0	5207	1116	39	1	455	1	EPHX1	1	226026435	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	23	226026435	23224186	1444	5060											
TMEM63A	9725	broad.mit.edu	37	1	226043589	226043589	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:226043589T>C	ENST00000366835.3	-	18	1894	c.1624A>G	c.(1624-1626)Atc>Gtc	p.I542V		NM_014698.2	NP_055513.2	O94886	TM63A_HUMAN	transmembrane protein 63A	542						integral to membrane|lysosomal membrane	nucleotide binding			breast(2)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24	Breast(184;0.197)					TCCAACCTGATGGAGGCCTCC	0.522													11	18					0	0	1	0	0	C	226043589	T	C	226043589	3	2	81	1	0	0	0	0	1	0	0	0	16250	1464	51	3	827	3	TMEM63A	1	226043589	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	17154	226043589	23207032	1445	5061											
LEFTY2	7044	broad.mit.edu	37	1	226125267	226125267	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:226125267G>T	ENST00000366820.5	-	4	1323	c.975C>A	c.(973-975)ccC>ccA	p.P325P	LEFTY2_ENST00000420304.2_Silent_p.P291P	NM_003240.3	NP_003231.2	O00292	LFTY2_HUMAN	left-right determination factor 2	325					cell growth|multicellular organismal development|platelet activation|platelet degranulation|transforming growth factor beta receptor signaling pathway	extracellular space|platelet alpha granule lumen	cytokine activity|growth factor activity|transforming growth factor beta receptor binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	16	Breast(184;0.197)					TGACGATCATGGGCAGCGAGG	0.657													4	45					0.014758	0.0152304	1	1	0	T	226125267	G	T	226125267	2	4	81	1	0	0	0	0	0	0	0	1	8755	1335	47	5		5	LEFTY2	1	226125267	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	81678	226125267	23125354	1446	5062											
H3F3A	3020	broad.mit.edu	37	1	226259158	226259158	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:226259158G>A	ENST00000366813.1	+	3	764	c.389G>A	c.(388-390)cGc>cAc	p.R130H	H3F3A_ENST00000366816.1_Missense_Mutation_p.R130H|H3F3A_ENST00000366815.3_Missense_Mutation_p.R130H					H3 histone, family 3A											central_nervous_system(116)|endometrium(2)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	123	Breast(184;0.179)			GBM - Glioblastoma multiforme(131;0.203)		CTAGCACGCCGCATACGTGGA	0.403			Mis		glioma								8	11					0	0	1	0	0	A	226259158	G	A	226259158	3	1	81	1	0	0	0	0	1	0	0	0	6974	1087	38	1	399	1	H3F3A	1	226259158	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	133891	226259158	22991463	1447	5063											
LIN9	286826	broad.mit.edu	37	1	226453982	226453982	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:226453982G>A	ENST00000328205.5	-	9	1461	c.916C>T	c.(916-918)Cgg>Tgg	p.R306W	LIN9_ENST00000481685.1_Missense_Mutation_p.R271W|LIN9_ENST00000366801.1_Missense_Mutation_p.R255W	NM_173083.3	NP_775106.2	Q5TKA1	LIN9_HUMAN	lin-9 homolog (C. elegans)	290					cell cycle|DNA replication	nucleoplasm		p.R306W(4)		breast(3)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.131)		CGAGAAGGCCGCTGTTTTTGT	0.338													17	15					0	0	1	0	0	A	226453982	G	A	226453982	3	1	81	1	0	0	0	0	1	0	0	0	8854	1086	38	1	788	1	LIN9	1	226453982	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	194824	226453982	22796639	1448	5064											
LIN9	286826	broad.mit.edu	37	1	226474112	226474112	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:226474112G>T	ENST00000328205.5	-	6	1039	c.494C>A	c.(493-495)tCt>tAt	p.S165Y	LIN9_ENST00000481685.1_Missense_Mutation_p.S130Y|LIN9_ENST00000366801.1_Missense_Mutation_p.S114Y	NM_173083.3	NP_775106.2	Q5TKA1	LIN9_HUMAN	lin-9 homolog (C. elegans)	149	Sufficient for interaction with RB1.				cell cycle|DNA replication	nucleoplasm				breast(3)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.131)		ATTAGGAAAAGATTCCTTTAG	0.313													26	77					1.1804e-14	1.50034e-14	1	1	0	T	226474112	G	T	226474112	3	4	81	1	0	0	0	0	1	0	0	0	8854	942	33	4	1222	4	LIN9	1	226474112	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	20130	226474112	22776509	1449	5065											
PARP1	142	broad.mit.edu	37	1	226552832	226552832	+	Silent	SNP	G	G	A	rs148631906		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:226552832G>A	ENST00000366794.5	-	19	2672	c.2529C>T	c.(2527-2529)ggC>ggT	p.G843G	PARP1_ENST00000490921.1_5'UTR	NM_001618.3	NP_001609.2	P09874	PARP1_HUMAN	poly (ADP-ribose) polymerase 1	843	PARP catalytic.				cellular response to insulin stimulus|protein ADP-ribosylation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nuclear envelope|nucleolus|transcription factor complex	DNA binding|identical protein binding|NAD+ ADP-ribosyltransferase activity|protein N-terminus binding|transcription factor binding|zinc ion binding			breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	44	Breast(184;0.133)			GBM - Glioblastoma multiforme(131;0.0531)		GCTGGCATTCGCCTTCACGCT	0.488								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA					30	34					0	0	1	0	0	A	226552832	G	A	226552832	2	1	81	1	0	0	0	0	0	0	0	1	11501	1074	38	1		1	PARP1	1	226552832	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	78720	226552832	22697789	1450	5066											
ITPKB	3707	broad.mit.edu	37	1	226822474	226822474	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:226822474G>A	ENST00000429204.1	-	8	3066	c.2739C>T	c.(2737-2739)gaC>gaT	p.D913D	ITPKB_ENST00000272117.3_Silent_p.D913D	NM_002221.3	NP_002212.3	P27987	IP3KB_HUMAN	inositol-trisphosphate 3-kinase B	913							ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(1)	30		Prostate(94;0.0773)				GCCAGGGGACGTCATGCTGCA	0.607													11	14					0	0	1	0	0	A	226822474	G	A	226822474	2	1	81	1	0	0	0	0	0	0	0	1	7962	1136	40	1		1	ITPKB	1	226822474	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	269642	226822474	22428147	1451	5067											
ITPKB	3707	broad.mit.edu	37	1	226829634	226829634	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:226829634G>A	ENST00000429204.1	-	5	2766	c.2439C>T	c.(2437-2439)atC>atT	p.I813I	ITPKB_ENST00000272117.3_Silent_p.I813I	NM_002221.3	NP_002212.3	P27987	IP3KB_HUMAN	inositol-trisphosphate 3-kinase B	813							ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(1)	30		Prostate(94;0.0773)				TGATTCCCTCGATCCTGAACC	0.657													44	60					0	0	1	0	0	A	226829634	G	A	226829634	2	1	81	1	0	0	0	0	0	0	0	1	7962	1048	37	1		1	ITPKB	1	226829634	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	7160	226829634	22420987	1452	5068											
PSEN2	5664	broad.mit.edu	37	1	227071420	227071420	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:227071420C>T	ENST00000366782.1	+	5	755	c.255C>T	c.(253-255)aaC>aaT	p.N85N	PSEN2_ENST00000340188.4_Silent_p.N52N|PSEN2_ENST00000422240.2_Silent_p.N52N|PSEN2_ENST00000391872.2_Silent_p.N85N|PSEN2_ENST00000366783.3_Silent_p.N52N			P49810	PSN2_HUMAN	presenilin 2 (Alzheimer disease 4)	52					amyloid precursor protein catabolic process|anti-apoptosis|apoptosis|beta-amyloid metabolic process|calcium ion transport|induction of apoptosis by extracellular signals|intracellular signal transduction|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity	apical plasma membrane|axon|cell cortex|cell surface|centrosome|ciliary rootlet|dendritic shaft|endoplasmic reticulum membrane|Golgi membrane|growth cone|integral to plasma membrane|kinetochore|lysosomal membrane|membrane raft|mitochondrial inner membrane|neuromuscular junction|neuronal cell body|nuclear inner membrane|perinuclear region of cytoplasm|Z disc	aspartic-type endopeptidase activity|protein binding			cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|urinary_tract(1)	20		Prostate(94;0.0771)				GCCAGGAGAACGAGGAGGACG	0.592													9	17					0	0	1	0	0	T	227071420	C	T	227071420	2	4	81	1	0	0	0	0	0	0	0	1	12700	535	19	1		1	PSEN2	1	227071420	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	241786	227071420	22179201	1453	5069											
CDC42BPA	8476	broad.mit.edu	37	1	227223260	227223260	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:227223260G>T	ENST00000366769.3	-	24	4434	c.3143C>A	c.(3142-3144)aCt>aAt	p.T1048N	CDC42BPA_ENST00000334218.5_Missense_Mutation_p.T1048N|CDC42BPA_ENST00000366765.3_Missense_Mutation_p.T1061N|CDC42BPA_ENST00000535525.1_Missense_Mutation_p.T1028N|CDC42BPA_ENST00000366766.2_Missense_Mutation_p.T1083N|CDC42BPA_ENST00000366764.2_Missense_Mutation_p.T1020N|CDC42BPA_ENST00000366767.3_Missense_Mutation_p.T967N	NM_003607.3	NP_003598.2	Q5VT25	MRCKA_HUMAN	CDC42 binding protein kinase alpha (DMPK-like)	1061					actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77		all_cancers(173;0.156)|Prostate(94;0.0792)				AACTGGACAAGTGGTTGGAGC	0.378													7	83					5.18039e-06	5.88187e-06	1	1	0	T	227223260	G	T	227223260	3	4	81	1	0	0	0	0	1	0	0	0	3094	1029	36	4	2068	4	CDC42BPA	1	227223260	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	151840	227223260	22027361	1454	5070											
CDC42BPA	8476	broad.mit.edu	37	1	227300398	227300398	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:227300398G>A	ENST00000366769.3	-	13	3155	c.1864C>T	c.(1864-1866)Cgc>Tgc	p.R622C	CDC42BPA_ENST00000334218.5_Missense_Mutation_p.R622C|CDC42BPA_ENST00000366765.3_Missense_Mutation_p.R622C|CDC42BPA_ENST00000535525.1_Missense_Mutation_p.R622C|CDC42BPA_ENST00000366766.2_Missense_Mutation_p.R622C|CDC42BPA_ENST00000366764.2_Missense_Mutation_p.R622C|CDC42BPA_ENST00000366767.3_Intron	NM_003607.3	NP_003598.2	Q5VT25	MRCKA_HUMAN	CDC42 binding protein kinase alpha (DMPK-like)	622					actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77		all_cancers(173;0.156)|Prostate(94;0.0792)				TCTGTTCTGCGCAGTTCTTGC	0.413													56	129					0	0	1	0	0	A	227300398	G	A	227300398	3	1	81	1	0	0	0	0	1	0	0	0	3094	1087	38	1	3391	1	CDC42BPA	1	227300398	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	77138	227300398	21950223	1455	5071											
CDC42BPA	8476	broad.mit.edu	37	1	227335230	227335230	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:227335230C>A	ENST00000366769.3	-	7	2015	c.724G>T	c.(724-726)Gat>Tat	p.D242Y	CDC42BPA_ENST00000334218.5_Missense_Mutation_p.D242Y|CDC42BPA_ENST00000366765.3_Missense_Mutation_p.D242Y|CDC42BPA_ENST00000535525.1_Missense_Mutation_p.D242Y|CDC42BPA_ENST00000366766.2_Missense_Mutation_p.D242Y|CDC42BPA_ENST00000366764.2_Missense_Mutation_p.D242Y|CDC42BPA_ENST00000366767.3_Missense_Mutation_p.D242Y	NM_003607.3	NP_003598.2	Q5VT25	MRCKA_HUMAN	CDC42 binding protein kinase alpha (DMPK-like)	242	Protein kinase.				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77		all_cancers(173;0.156)|Prostate(94;0.0792)				GAGATATAATCTGGAGTTCCT	0.348													30	51					9.78485e-24	1.29022e-23	1	1	0	A	227335230	C	A	227335230	3	1	81	1	0	0	0	0	1	0	0	0	3094	913	32	4	4555	4	CDC42BPA	1	227335230	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	34832	227335230	21915391	1456	5072											
ZNF678	339500	broad.mit.edu	37	1	227842667	227842667	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:227842667G>A	ENST00000343776.5	+	4	1061	c.716G>A	c.(715-717)tGc>tAc	p.C239Y	ZNF678_ENST00000608949.1_Intron|ZNF678_ENST00000397097.3_Missense_Mutation_p.C294Y	NM_178549.3	NP_848644.2	F5GXA7	F5GXA7_HUMAN	zinc finger protein 678						regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	p.C239F(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|pancreas(1)|prostate(1)	24		Prostate(94;0.0885)				CCCTACAAATGCAAAGAATGT	0.388													38	72					0	0	1	0	0	A	227842667	G	A	227842667	3	1	81	1	0	0	0	0	1	0	0	0	18142	1319	46	2	895	2	ZNF678	1	227842667	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	507437	227842667	21407954	1457	5073											
PRSS38	339501	broad.mit.edu	37	1	228003901	228003901	+	Missense_Mutation	SNP	G	G	A	rs140039939		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:228003901G>A	ENST00000366757.3	+	2	283	c.259G>A	c.(259-261)Ggc>Agc	p.G87S		NM_183062.2	NP_898885.1	A1L453	PRS38_HUMAN	protease, serine, 38	87	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						CGTCTGCGGCGGCTCCATCCT	0.672													22	72					0	0	1	0	0	A	228003901	G	A	228003901	3	1	81	1	0	0	0	0	1	0	0	0	12676	1116	39	1	265	1	PRSS38	1	228003901	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	161234	228003901	21246720	1458	5074											
PRSS38	339501	broad.mit.edu	37	1	228004916	228004916	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:228004916G>T	ENST00000366757.3	+	3	342	c.318G>T	c.(316-318)aaG>aaT	p.K106N		NM_183062.2	NP_898885.1	A1L453	PRS38_HUMAN	protease, serine, 38	106	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						ACAGGGACAAGAATATCAAAA	0.582													27	52					4.40665e-25	5.82665e-25	1	1	0	T	228004916	G	T	228004916	3	4	81	1	0	0	0	0	1	0	0	0	12676	933	33	4	328	4	PRSS38	1	228004916	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1015	228004916	21245705	1459	5075											
PRSS38	339501	broad.mit.edu	37	1	228033778	228033778	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:228033778T>G	ENST00000366757.3	+	5	874	c.850T>G	c.(850-852)Ttc>Gtc	p.F284V		NM_183062.2	NP_898885.1	A1L453	PRS38_HUMAN	protease, serine, 38	284	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						TGTTTCCTATTTCTCAAAATG	0.532													23	24					0	0	1	0	0	G	228033778	T	G	228033778	3	3	81	1	0	0	0	0	1	0	0	0	12676	1841	64	5	868	5	PRSS38	1	228033778	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	28862	228033778	21216843	1460	5076											
WNT3A	89780	broad.mit.edu	37	1	228210547	228210547	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:228210547G>A	ENST00000284523.1	+	2	329	c.251G>A	c.(250-252)cGc>cAc	p.R84H	WNT3A_ENST00000366753.2_Missense_Mutation_p.R84H	NM_033131.3	NP_149122.1	P56704	WNT3A_HUMAN	wingless-type MMTV integration site family, member 3A	84					axis specification|cell proliferation in forebrain|cell-cell signaling|cellular response to retinoic acid|convergent extension|dermatome development|dorsal/ventral neural tube patterning|embryonic pattern specification|extracellular matrix organization|hemopoietic stem cell proliferation|hippocampus development|inner ear morphogenesis|mammary gland development|midbrain-hindbrain boundary development|negative regulation of fat cell differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of neuron projection development|notochord development|palate development|paraxial mesodermal cell fate commitment|positive regulation of catenin import into nucleus|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of receptor internalization|positive regulation of transcription from RNA polymerase II promoter|signalosome assembly|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuroblast division|Wnt receptor signaling pathway, calcium modulating pathway	cell surface|early endosome|extracellular space|late endosome|membrane raft|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|frizzled-2 binding|receptor agonist activity|signal transducer activity|transcription coactivator activity			kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	12		Prostate(94;0.0405)				TTCCGCGGCCGCCGGTGGAAC	0.637													30	32					0	0	1	0	0	A	228210547	G	A	228210547	3	1	81	1	0	0	0	0	1	0	0	0	17449	1087	38	1	257	1	WNT3A	1	228210547	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	176769	228210547	21040074	1461	5077											
ARF1	375	broad.mit.edu	37	1	228284846	228284846	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:228284846G>A	ENST00000541182.1	+	2	293	c.31G>A	c.(31-33)Ggc>Agc	p.G11S	ARF1_ENST00000478424.1_3'UTR|ARF1_ENST00000540651.1_Missense_Mutation_p.G11S|ARF1_ENST00000272102.5_Missense_Mutation_p.G11S	NM_001024227.1|NM_001024228.1	NP_001019398.1|NP_001019399.1	P84077	ARF1_HUMAN	ADP-ribosylation factor 1	11					cellular copper ion homeostasis|COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|protein transport|regulation of defense response to virus by virus|retrograde vesicle-mediated transport, Golgi to ER|small GTPase mediated signal transduction|viral reproduction	cytosol|Golgi membrane|perinuclear region of cytoplasm|plasma membrane	GTP binding|GTPase activity|protein binding|receptor signaling protein activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)	10		Prostate(94;0.0405)				CCTCTTCAAGGGCCTTTTTGG	0.542													33	65					0	0	1	0	0	A	228284846	G	A	228284846	3	1	81	1	0	0	0	0	1	0	0	0	841	1232	43	2	33	2	ARF1	1	228284846	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	74299	228284846	20965775	1462	5078											
ARF1	375	broad.mit.edu	37	1	228285651	228285651	+	Silent	SNP	C	C	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:228285651C>G	ENST00000541182.1	+	5	745	c.483C>G	c.(481-483)acC>acG	p.T161T	ARF1_ENST00000478424.1_3'UTR|ARF1_ENST00000540651.1_Silent_p.T161T|ARF1_ENST00000272102.5_Silent_p.T161T	NM_001024227.1|NM_001024228.1	NP_001019398.1|NP_001019399.1	P84077	ARF1_HUMAN	ADP-ribosylation factor 1	161					cellular copper ion homeostasis|COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|protein transport|regulation of defense response to virus by virus|retrograde vesicle-mediated transport, Golgi to ER|small GTPase mediated signal transduction|viral reproduction	cytosol|Golgi membrane|perinuclear region of cytoplasm|plasma membrane	GTP binding|GTPase activity|protein binding|receptor signaling protein activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)	10		Prostate(94;0.0405)				CCTGCGCCACCAGCGGCGACG	0.617													13	22					0	0	1	0	0	G	228285651	C	G	228285651	2	3	81	1	0	0	0	0	0	0	0	1	841	581	21	5		5	ARF1	1	228285651	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	805	228285651	20964970	1463	5079											
C1orf35	79169	broad.mit.edu	37	1	228288868	228288868	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:228288868C>T	ENST00000272139.4	-	8	990	c.756G>A	c.(754-756)ccG>ccA	p.P252P	C1orf35_ENST00000472617.1_5'UTR	NM_024319.2	NP_077295.1	Q9BU76	MMTA2_HUMAN	chromosome 1 open reading frame 35	252										large_intestine(1)|lung(1)|skin(1)	3		Prostate(94;0.0488)				ACCTGCGAGACGGGCTCCTCC	0.632													14	43					0	0	1	0	0	T	228288868	C	T	228288868	2	4	81	1	0	0	0	0	0	0	0	1	2052	523	19	1		1	C1orf35	1	228288868	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3217	228288868	20961753	1464	5080											
MRPL55	128308	broad.mit.edu	37	1	228294577	228294577	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:228294577C>T	ENST00000366731.5	-	6	1172	c.379G>A	c.(379-381)Gcc>Acc	p.A127T	MRPL55_ENST00000366738.1_Missense_Mutation_p.A127T|MRPL55_ENST00000366732.1_Missense_Mutation_p.A88T|MRPL55_ENST00000366741.1_Missense_Mutation_p.A91T|MRPL55_ENST00000411464.2_Missense_Mutation_p.A91T|MRPL55_ENST00000348259.5_Missense_Mutation_p.A91T|MRPL55_ENST00000366740.1_Missense_Mutation_p.A91T|MRPL55_ENST00000366739.1_Missense_Mutation_p.A91T|MRPL55_ENST00000366747.3_Missense_Mutation_p.A91T|MRPL55_ENST00000295008.4_Missense_Mutation_p.A91T|MRPL55_ENST00000366735.1_Missense_Mutation_p.A91T|MRPL55_ENST00000366736.1_Missense_Mutation_p.A91T|MRPL55_ENST00000366742.1_Missense_Mutation_p.A91T|MRPL55_ENST00000336520.3_Missense_Mutation_p.A91T|MRPL55_ENST00000366744.1_Missense_Mutation_p.A91T|MRPL55_ENST00000366733.1_Missense_Mutation_p.A91T|MRPL55_ENST00000465397.1_5'UTR|MRPL55_ENST00000366734.1_Missense_Mutation_p.A91T|MRPL55_ENST00000391867.3_Missense_Mutation_p.A91T|MRPL55_ENST00000336300.5_Missense_Mutation_p.A91T|MRPL55_ENST00000366746.3_Missense_Mutation_p.A91T|MRPL55_ENST00000430433.1_Missense_Mutation_p.A127T			Q7Z7F7	RM55_HUMAN	mitochondrial ribosomal protein L55	91					translation	mitochondrial large ribosomal subunit	structural constituent of ribosome			central_nervous_system(1)|lung(4)	5		Prostate(94;0.0405)				CGCAGCCTGGCCCGGCGCTCC	0.597													35	42					0	0	1	0	0	T	228294577	C	T	228294577	3	4	81	1	0	0	0	0	1	0	0	0	9868	739	26	2	119	2	MRPL55	1	228294577	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	5709	228294577	20956044	1465	5081											
OBSCN	84033	broad.mit.edu	37	1	228399636	228399636	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:228399636C>T	ENST00000570156.2	+	2	226	c.152C>T	c.(151-153)gCg>gTg	p.A51V	C1orf145_ENST00000295012.5_Intron|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000422127.1_Missense_Mutation_p.A51V|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000284548.11_Missense_Mutation_p.A51V	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	51	Ig-like 1.		A -> T (in dbSNP:rs1771487).		apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CAGCCGGTGGCGGCCGGCGCG	0.692													6	7					0	0	1	0	0	T	228399636	C	T	228399636	3	4	81	1	0	0	0	0	1	0	0	0	10860	768	27	1	154	1	OBSCN	1	228399636	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	105059	228399636	20850985	1466	5082											
OBSCN	84033	broad.mit.edu	37	1	228402554	228402554	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:228402554C>A	ENST00000570156.2	+	5	1657	c.1583C>A	c.(1582-1584)tCc>tAc	p.S528Y	OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000422127.1_Missense_Mutation_p.S528Y|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000284548.11_Missense_Mutation_p.S528Y	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	528	Fibronectin type-III 1.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				ATGGAGAGTTCCGTGATTCTC	0.597													13	11					1.61879e-10	1.98515e-10	1	1	0	A	228402554	C	A	228402554	3	1	81	1	0	0	0	0	1	0	0	0	10860	855	30	5	1597	5	OBSCN	1	228402554	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2918	228402554	20848067	1467	5083	19	2									
OBSCN	84033	broad.mit.edu	37	1	228402555	228402555	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:228402555C>T	ENST00000570156.2	+	5	1658	c.1584C>T	c.(1582-1584)tcC>tcT	p.S528S	OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000422127.1_Silent_p.S528S|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000284548.11_Silent_p.S528S	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	528	Fibronectin type-III 1.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				TGGAGAGTTCCGTGATTCTCA	0.592													6	19					0	0	1	0	0	T	228402555	C	T	228402555	2	4	81	1	0	0	0	0	0	0	0	1	10860	639	23	1		1	OBSCN	1	228402555	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1	228402555	20848066	1468	5084	19	2									
OBSCN	84033	broad.mit.edu	37	1	228475655	228475655	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:228475655G>T	ENST00000570156.2	+	41	11166	c.11092G>T	c.(11092-11094)Gtg>Ttg	p.V3698L	OBSCN_ENST00000284548.11_Missense_Mutation_p.V3269L|OBSCN_ENST00000422127.1_Missense_Mutation_p.V3269L|OBSCN_ENST00000366709.4_Missense_Mutation_p.V388L|OBSCN_ENST00000366707.4_Missense_Mutation_p.V388L|OBSCN_ENST00000359599.6_Missense_Mutation_p.V2116L	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	2731	Ig-like 37.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CACCCTCACAGTGACTGGTAA	0.602													10	24					1.08611e-07	1.27405e-07	1	1	0	T	228475655	G	T	228475655	3	4	81	1	0	0	0	0	1	0	0	0	10860	1029	36	4	9943	4	OBSCN	1	228475655	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	73100	228475655	20774966	1469	5085											
OBSCN	84033	broad.mit.edu	37	1	228487104	228487104	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:228487104G>A	ENST00000570156.2	+	50	13429	c.13355G>A	c.(13354-13356)aGc>aAc	p.S4452N	OBSCN_ENST00000284548.11_Intron|RP5-1139B12.4_ENST00000602778.1_RNA|OBSCN_ENST00000422127.1_Intron|OBSCN_ENST00000366709.4_Intron|OBSCN_ENST00000366707.4_Missense_Mutation_p.S1142N|OBSCN_ENST00000359599.6_3'UTR	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	3495	Ig-like 46.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GACAAATACAGCCTGAGACAA	0.572													48	36					0	0	1	0	0	A	228487104	G	A	228487104	3	1	81	1	0	0	0	0	1	0	0	0	10860	986	34	2		2	OBSCN	1	228487104	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	11449	228487104	20763517	1470	5086											
OBSCN	84033	broad.mit.edu	37	1	228487783	228487783	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:228487783G>T	ENST00000570156.2	+	51	13749	c.13675G>T	c.(13675-13677)Gat>Tat	p.D4559Y	OBSCN_ENST00000284548.11_Intron|RP5-1139B12.4_ENST00000602778.1_RNA|OBSCN_ENST00000422127.1_Intron|OBSCN_ENST00000366709.4_Intron|OBSCN_ENST00000602685.1_3'UTR|OBSCN_ENST00000366707.4_Missense_Mutation_p.D1249Y|OBSCN_ENST00000359599.6_3'UTR	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	3602	Fibronectin type-III 3.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GGTCATAGCAGATGCTGGAGA	0.557													28	32					5.45727e-16	6.98592e-16	1	1	0	T	228487783	G	T	228487783	3	4	81	1	0	0	0	0	1	0	0	0	10860	957	33	4		4	OBSCN	1	228487783	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	679	228487783	20762838	1471	5087											
OBSCN	84033	broad.mit.edu	37	1	228491436	228491436	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:228491436C>T	ENST00000570156.2	+	52	13873	c.13799C>T	c.(13798-13800)gCt>gTt	p.A4600V	OBSCN_ENST00000284548.11_Intron|OBSCN_ENST00000422127.1_Intron|OBSCN_ENST00000366709.4_Intron|OBSCN_ENST00000366707.4_Missense_Mutation_p.A1290V|OBSCN_ENST00000359599.6_3'UTR	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	3643	Fibronectin type-III 3.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GGGGCCACAGCTGTGCTGCAG	0.587													22	62					0	0	1	0	0	T	228491436	C	T	228491436	3	4	81	1	0	0	0	0	1	0	0	0	10860	812	28	2		2	OBSCN	1	228491436	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3653	228491436	20759185	1472	5088											
OBSCN	84033	broad.mit.edu	37	1	228503696	228503696	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:228503696G>T	ENST00000570156.2	+	61	16106	c.16032G>T	c.(16030-16032)gaG>gaT	p.E5344D	OBSCN_ENST00000284548.11_Missense_Mutation_p.E4387D|OBSCN_ENST00000422127.1_Missense_Mutation_p.E4387D|OBSCN_ENST00000366709.4_Missense_Mutation_p.E1506D|OBSCN_ENST00000366707.4_Missense_Mutation_p.E2021D	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	4387	Ig-like 50.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				AGAACGCCGAGGTGGTCTTCT	0.657													6	5					3.59834e-05	3.99423e-05	1	1	0	T	228503696	G	T	228503696	3	4	81	1	0	0	0	0	1	0	0	0	10860	991	35	4	13355	4	OBSCN	1	228503696	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	12260	228503696	20746925	1473	5089											
OBSCN	84033	broad.mit.edu	37	1	228506846	228506846	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:228506846C>T	ENST00000570156.2	+	65	17338	c.17264C>T	c.(17263-17265)gCt>gTt	p.A5755V	OBSCN_ENST00000284548.11_Missense_Mutation_p.A4798V|OBSCN_ENST00000422127.1_Missense_Mutation_p.A4798V|OBSCN_ENST00000366709.4_Missense_Mutation_p.A1917V|OBSCN_ENST00000366707.4_Missense_Mutation_p.A2432V	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	4798	DH.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				ACTGGAGATGCTGACCTCTCA	0.647													11	15					0	0	1	0	0	T	228506846	C	T	228506846	3	4	81	1	0	0	0	0	1	0	0	0	10860	797	28	2	14603	2	OBSCN	1	228506846	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3150	228506846	20743775	1474	5090											
OBSCN	84033	broad.mit.edu	37	1	228509327	228509327	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:228509327G>A	ENST00000570156.2	+	66	17730	c.17656G>A	c.(17656-17658)Gcc>Acc	p.A5886T	OBSCN_ENST00000284548.11_Missense_Mutation_p.A4929T|OBSCN_ENST00000422127.1_Missense_Mutation_p.A4929T|OBSCN_ENST00000366709.4_Missense_Mutation_p.A2048T|OBSCN_ENST00000366707.4_Missense_Mutation_p.A2563T	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	4929					apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				AGATGTGCGAGCCCGCTGGCT	0.637													18	21					0	0	1	0	0	A	228509327	G	A	228509327	3	1	81	1	0	0	0	0	1	0	0	0	10860	971	34	2	14999	2	OBSCN	1	228509327	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2481	228509327	20741294	1475	5091											
OBSCN	84033	broad.mit.edu	37	1	228509366	228509366	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:228509366C>T	ENST00000570156.2	+	66	17769	c.17695C>T	c.(17695-17697)Cgg>Tgg	p.R5899W	OBSCN_ENST00000284548.11_Missense_Mutation_p.R4942W|OBSCN_ENST00000422127.1_Missense_Mutation_p.R4942W|OBSCN_ENST00000366709.4_Missense_Mutation_p.R2061W|OBSCN_ENST00000366707.4_Missense_Mutation_p.R2576W	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	4942	PH.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GACCGATGGGCGGCACCATCA	0.637													28	35					0	0	1	0	0	T	228509366	C	T	228509366	3	4	81	1	0	0	0	0	1	0	0	0	10860	759	27	1	15038	1	OBSCN	1	228509366	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	39	228509366	20741255	1476	5092											
OBSCN	84033	broad.mit.edu	37	1	228524811	228524811	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:228524811G>A	ENST00000570156.2	+	76	19589	c.19515G>A	c.(19513-19515)tcG>tcA	p.S6505S	OBSCN_ENST00000284548.11_Silent_p.S5548S|OBSCN_ENST00000422127.1_Silent_p.S5548S|OBSCN_ENST00000366709.4_Silent_p.S2667S|OBSCN_ENST00000366707.4_Silent_p.S3182S	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	5548	Protein kinase 1.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				AGATGGTATCGGCCAAGATCA	0.642													17	31					0	0	1	0	0	A	228524811	G	A	228524811	2	1	81	1	0	0	0	0	0	0	0	1	10860	1103	39	1		1	OBSCN	1	228524811	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	15445	228524811	20725810	1477	5093											
OBSCN	84033	broad.mit.edu	37	1	228528510	228528510	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:228528510G>A	ENST00000570156.2	+	83	20563	c.20489G>A	c.(20488-20490)cGc>cAc	p.R6830H	OBSCN_ENST00000284548.11_Missense_Mutation_p.R5873H|OBSCN_ENST00000422127.1_Missense_Mutation_p.R5873H|OBSCN_ENST00000366709.4_Missense_Mutation_p.R2992H|OBSCN_ENST00000366707.4_Missense_Mutation_p.R3507H	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	5873					apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CTGCCACAGCGCGCTGAGAAC	0.687													4	3					0	0	1	0	0	A	228528510	G	A	228528510	3	1	81	1	0	0	0	0	1	0	0	0	10860	1087	38	1	17900	1	OBSCN	1	228528510	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	3699	228528510	20722111	1478	5094											
OBSCN	84033	broad.mit.edu	37	1	228543886	228543886	+	Silent	SNP	C	C	T	rs146933748	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:228543886C>T	ENST00000284548.11	+	80	18770	c.18696C>T	c.(18694-18696)acC>acT	p.T6232T	OBSCN_ENST00000570156.2_Intron|OBSCN_ENST00000422127.1_Intron|OBSCN_ENST00000366709.4_Silent_p.T3351T|OBSCN_ENST00000366707.4_Intron	NM_052843.3	NP_443075.3	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	6232					apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CCAAGAAAACCGTCATCATGT	0.537													64	164					0	0	1	0	0	T	228543886	C	T	228543886	2	4	81	1	0	0	0	0	0	0	0	1	10860	639	23	1		1	OBSCN	1	228543886	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	15376	228543886	20706735	1479	5095											
TRIM17	51127	broad.mit.edu	37	1	228598777	228598777	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:228598777G>A	ENST00000366697.2	-	3	1582	c.626C>T	c.(625-627)aCg>aTg	p.T209M	TRIM17_ENST00000366698.2_Missense_Mutation_p.T209M|TRIM17_ENST00000456946.2_Missense_Mutation_p.T209M|TRIM17_ENST00000295033.3_Missense_Mutation_p.T209M			Q9Y577	TRI17_HUMAN	tripartite motif containing 17	209					protein autoubiquitination	intracellular	protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)	10		Prostate(94;0.0724)				CTCTTCTTCCGTCTCCAGAGC	0.617													40	50					0	0	1	0	0	A	228598777	G	A	228598777	3	1	81	1	0	0	0	0	1	0	0	0	16554	1145	40	1	972	1	TRIM17	1	228598777	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	54891	228598777	20651844	1480	5096											
TRIM17	51127	broad.mit.edu	37	1	228602720	228602720	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:228602720G>T	ENST00000366697.2	-	1	1010	c.54C>A	c.(52-54)atC>atA	p.I18I	TRIM17_ENST00000366698.2_Silent_p.I18I|TRIM17_ENST00000456946.2_Silent_p.I18I|TRIM17_ENST00000295033.3_Silent_p.I18I			Q9Y577	TRI17_HUMAN	tripartite motif containing 17	18					protein autoubiquitination	intracellular	protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)	10		Prostate(94;0.0724)				AATCCAGACAGATGGAGCACG	0.587													17	14					6.94344e-10	8.44171e-10	1	1	0	T	228602720	G	T	228602720	2	4	81	1	0	0	0	0	0	0	0	1	16554	932	33	4		4	TRIM17	1	228602720	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	3943	228602720	20647901	1481	5097											
NUP133	55746	broad.mit.edu	37	1	229588289	229588289	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:229588289C>T	ENST00000261396.3	-	22	3173	c.3082G>A	c.(3082-3084)Gca>Aca	p.A1028T	NUP133_ENST00000537506.1_Missense_Mutation_p.A1012T	NM_018230.2	NP_060700.2	Q8WUM0	NU133_HUMAN	nucleoporin 133kDa	1028					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding			NS(1)|breast(7)|endometrium(1)|kidney(6)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(4)	56	Breast(184;0.104)|Ovarian(103;0.249)	Prostate(94;0.167)				AGTTGTGGTGCAGTCAATACT	0.448													6	69					0	0	1	0	0	T	229588289	C	T	229588289	3	4	81	1	0	0	0	0	1	0	0	0	10802	710	25	2	408	2	NUP133	1	229588289	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	985569	229588289	19662332	1482	5098											
NUP133	55746	broad.mit.edu	37	1	229596379	229596379	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:229596379A>G	ENST00000261396.3	-	20	2914	c.2823T>C	c.(2821-2823)atT>atC	p.I941I	NUP133_ENST00000537506.1_Silent_p.I925I	NM_018230.2	NP_060700.2	Q8WUM0	NU133_HUMAN	nucleoporin 133kDa	941					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding			NS(1)|breast(7)|endometrium(1)|kidney(6)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(4)	56	Breast(184;0.104)|Ovarian(103;0.249)	Prostate(94;0.167)				CTTGGCTATTAATTTCATGTA	0.328													4	75					0	0	1	0	0	G	229596379	A	G	229596379	2	3	81	1	0	0	0	0	0	0	0	1	10802	358	13	3		3	NUP133	1	229596379	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	8090	229596379	19654242	1483	5099											
NUP133	55746	broad.mit.edu	37	1	229623232	229623232	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:229623232T>C	ENST00000261396.3	-	10	1414	c.1323A>G	c.(1321-1323)aaA>aaG	p.K441K	NUP133_ENST00000537506.1_Silent_p.K425K	NM_018230.2	NP_060700.2	Q8WUM0	NU133_HUMAN	nucleoporin 133kDa	441					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding			NS(1)|breast(7)|endometrium(1)|kidney(6)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(4)	56	Breast(184;0.104)|Ovarian(103;0.249)	Prostate(94;0.167)				TAAAGACAATTTTCTCCTGGG	0.413													13	116					0	0	1	0	0	C	229623232	T	C	229623232	2	2	81	1	0	0	0	0	0	0	0	1	10802	1838	64	3		3	NUP133	1	229623232	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	26853	229623232	19627389	1484	5100											
TAF5L	27097	broad.mit.edu	37	1	229738320	229738320	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:229738320G>A	ENST00000366675.3	-	4	682	c.594C>T	c.(592-594)gaC>gaT	p.D198D	TAF5L_ENST00000366676.1_Silent_p.D198D|TAF5L_ENST00000258281.2_Silent_p.D198D	NM_001025247.1	NP_001020418.1	O75529	TAF5L_HUMAN	TAF5-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa	198					histone H3 acetylation|transcription from RNA polymerase II promoter	STAGA complex|transcription factor TFTC complex	sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)	11	Breast(184;0.193)|Ovarian(103;0.249)	Prostate(94;0.167)				CAGGCTGCACGTCAAGATGAA	0.527													30	45					0	0	1	0	0	A	229738320	G	A	229738320	2	1	81	1	0	0	0	0	0	0	0	1	15586	1136	40	1		1	TAF5L	1	229738320	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	115088	229738320	19512301	1485	5101											
TAF5L	27097	broad.mit.edu	37	1	229738582	229738582	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:229738582C>T	ENST00000366675.3	-	4	420	c.332G>A	c.(331-333)aGt>aAt	p.S111N	TAF5L_ENST00000366676.1_Missense_Mutation_p.S111N|TAF5L_ENST00000258281.2_Missense_Mutation_p.S111N	NM_001025247.1	NP_001020418.1	O75529	TAF5L_HUMAN	TAF5-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa	111					histone H3 acetylation|transcription from RNA polymerase II promoter	STAGA complex|transcription factor TFTC complex	sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)	11	Breast(184;0.193)|Ovarian(103;0.249)	Prostate(94;0.167)				GCTCTTCGGACTGTTTTGGAC	0.453													8	81					0	0	1	0	0	T	229738582	C	T	229738582	3	4	81	1	0	0	0	0	1	0	0	0	15586	565	20	2	1451	2	TAF5L	1	229738582	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	262	229738582	19512039	1486	5102											
TAF5L	27097	broad.mit.edu	37	1	229745874	229745874	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:229745874G>A	ENST00000366675.3	-	3	314	c.226C>T	c.(226-228)Cga>Tga	p.R76*	TAF5L_ENST00000477957.1_5'UTR|TAF5L_ENST00000366676.1_Nonsense_Mutation_p.R76*|TAF5L_ENST00000258281.2_Nonsense_Mutation_p.R76*	NM_001025247.1	NP_001020418.1	O75529	TAF5L_HUMAN	TAF5-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa	76					histone H3 acetylation|transcription from RNA polymerase II promoter	STAGA complex|transcription factor TFTC complex	sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)	11	Breast(184;0.193)|Ovarian(103;0.249)	Prostate(94;0.167)				TTCCGCAGTCGTCCAAACTGT	0.443													6	64					0	0	1	0	0	A	229745874	G	A	229745874	4	1	81	1	0	0	0	0	0	1	0	0	15586	1153	40	1	1561	1	TAF5L	1	229745874	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	7292	229745874	19504747	1487	5103											
URB2	9816	broad.mit.edu	37	1	229763385	229763385	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:229763385C>T	ENST00000258243.2	+	2	141	c.5C>T	c.(4-6)gCt>gTt	p.A2V		NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	2						nucleolus				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						CTAGCCATGGCTGCTGTTTAT	0.378													8	65					0	0	1	0	0	T	229763385	C	T	229763385	3	4	81	1	0	0	0	0	1	0	0	0	17085	797	28	2	7	2	URB2	1	229763385	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	17511	229763385	19487236	1488	5104											
URB2	9816	broad.mit.edu	37	1	229773414	229773414	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:229773414C>A	ENST00000258243.2	+	4	3190	c.3054C>A	c.(3052-3054)agC>agA	p.S1018R		NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	1018						nucleolus				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						TGAAGCTGAGCTTGGTGCTCA	0.453													20	45					0.000132079	0.000145003	1	1	0	A	229773414	C	A	229773414	3	1	81	1	0	0	0	0	1	0	0	0	17085	796	28	4	3064	4	URB2	1	229773414	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	10029	229773414	19477207	1489	5105											
URB2	9816	broad.mit.edu	37	1	229779332	229779332	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:229779332C>A	ENST00000258243.2	+	5	3823	c.3687C>A	c.(3685-3687)gcC>gcA	p.A1229A		NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	1229						nucleolus				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						ATTTGGGAGCCTTGTTCACCC	0.453													15	122					2.23348e-06	2.55658e-06	1	1	0	A	229779332	C	A	229779332	2	1	81	1	0	0	0	0	0	0	0	1	17085	668	24	4		4	URB2	1	229779332	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	5918	229779332	19471289	1490	5106											
URB2	9816	broad.mit.edu	37	1	229794945	229794945	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:229794945G>A	ENST00000258243.2	+	10	4612	c.4476G>A	c.(4474-4476)tcG>tcA	p.S1492S		NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	1492						nucleolus				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						TGCGGGCCTCGCTGCAGCCGG	0.502													79	142					0	0	1	0	0	A	229794945	G	A	229794945	2	1	81	1	0	0	0	0	0	0	0	1	17085	1074	38	1		1	URB2	1	229794945	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	15613	229794945	19455676	1491	5107											
URB2	9816	broad.mit.edu	37	1	229794981	229794981	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:229794981C>T	ENST00000258243.2	+	10	4648	c.4512C>T	c.(4510-4512)ctC>ctT	p.L1504L		NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	1504						nucleolus				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						TTAAGGAGCTCTATAATGACT	0.522													94	122					0	0	1	0	0	T	229794981	C	T	229794981	2	4	81	1	0	0	0	0	0	0	0	1	17085	900	32	2		2	URB2	1	229794981	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	36	229794981	19455640	1492	5108											
GALNT2	2590	broad.mit.edu	37	1	230372444	230372444	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:230372444C>T	ENST00000366672.4	+	6	652	c.580C>T	c.(580-582)Cga>Tga	p.R194*	GALNT2_ENST00000543760.1_Nonsense_Mutation_p.R156*|GALNT2_ENST00000541865.1_Nonsense_Mutation_p.R104*	NM_004481.3	NP_004472.1	Q10471	GALT2_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2)	194	Catalytic subdomain A.				immunoglobulin biosynthetic process|protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane|perinuclear region of cytoplasm	manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(5)|skin(2)	32	Breast(184;0.193)|Ovarian(103;0.249)	all_cancers(173;0.156)|Prostate(94;0.179)				TGAGAAAGTGCGAGTTCTTAG	0.403													11	116					0	0	1	0	0	T	230372444	C	T	230372444	4	4	81	1	0	0	0	0	0	1	0	0	6253	760	27	1	602	1	GALNT2	1	230372444	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	577463	230372444	18878177	1493	5109											
GALNT2	2590	broad.mit.edu	37	1	230398703	230398703	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:230398703G>A	ENST00000366672.4	+	13	1337	c.1265G>A	c.(1264-1266)aGc>aAc	p.S422N	GALNT2_ENST00000543760.1_Missense_Mutation_p.S384N|GALNT2_ENST00000485438.1_3'UTR|GALNT2_ENST00000541865.1_3'UTR|RP5-956O18.2_ENST00000440729.1_RNA	NM_004481.3	NP_004472.1	Q10471	GALT2_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2)	422					immunoglobulin biosynthetic process|protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane|perinuclear region of cytoplasm	manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(5)|skin(2)	32	Breast(184;0.193)|Ovarian(103;0.249)	all_cancers(173;0.156)|Prostate(94;0.179)				AAGAAACTCAGCTGCAAGCCT	0.403													6	96					0	0	1	0	0	A	230398703	G	A	230398703	3	1	81	1	0	0	0	0	1	0	0	0	6253	971	34	2	1315	2	GALNT2	1	230398703	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	26259	230398703	18851918	1494	5110											
PGBD5	79605	broad.mit.edu	37	1	230492774	230492774	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:230492774C>T	ENST00000321327.2	-	4	714	c.715G>A	c.(715-717)Gag>Aag	p.E239K	PGBD5_ENST00000525115.1_Missense_Mutation_p.E140K|PGBD5_ENST00000391860.1_Missense_Mutation_p.E94K			Q8N414	PGBD5_HUMAN	piggyBac transposable element derived 5	140						integral to membrane				biliary_tract(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(2)|skin(1)	33	Breast(184;0.0397)	Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;0.201)		AGGATCTTCTCGAAGCGGGCC	0.627													28	28					0	0	1	0	0	T	230492774	C	T	230492774	3	4	81	1	0	0	0	0	1	0	0	0	11832	893	31	1	973	1	PGBD5	1	230492774	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	94071	230492774	18757847	1495	5111											
COG2	22796	broad.mit.edu	37	1	230822730	230822730	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:230822730C>A	ENST00000534989.1	+	13	1588	c.1253C>A	c.(1252-1254)cCt>cAt	p.P418H	COG2_ENST00000366668.3_Missense_Mutation_p.P477H|COG2_ENST00000546013.1_Missense_Mutation_p.P166H|COG2_ENST00000535166.1_Missense_Mutation_p.P361H|COG2_ENST00000366669.4_Missense_Mutation_p.P477H			Q14746	COG2_HUMAN	component of oligomeric golgi complex 2	477					Golgi organization|intra-Golgi vesicle-mediated transport|intracellular protein transport|oligosaccharide biosynthetic process|protein glycosylation	Golgi membrane|Golgi stack|Golgi transport complex	protein binding|protein transporter activity			NS(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|urinary_tract(3)	27	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)				ATCAAGAAACCTTTGGTAACT	0.433													23	25					4.47668e-21	5.85601e-21	1	1	0	A	230822730	C	A	230822730	3	1	81	1	0	0	0	0	1	0	0	0	3681	681	24	4	1480	4	COG2	1	230822730	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	329956	230822730	18427891	1496	5112											
AGT	183	broad.mit.edu	37	1	230841942	230841942	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:230841942C>A	ENST00000366667.4	-	3	1075	c.861G>T	c.(859-861)aaG>aaT	p.K287N		NM_000029.3	NP_000020.1	P01019	ANGT_HUMAN	angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	287					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|blood vessel remodeling|cell-cell signaling|cellular lipid metabolic process|G-protein signaling, coupled to cGMP nucleotide second messenger|kidney development|low-density lipoprotein particle remodeling|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of activation of JAK2 kinase activity|positive regulation of apoptosis|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of cardiac muscle hypertrophy|positive regulation of cholesterol esterification|positive regulation of cytokine production|positive regulation of endothelial cell migration|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of fibroblast proliferation|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein tyrosine kinase activity|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription, DNA-dependent|regulation of proteolysis|regulation of renal output by angiotensin|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|response to muscle activity involved in regulation of muscle adaptation	extracellular space|soluble fraction	acetyltransferase activator activity|growth factor activity|hormone activity|serine-type endopeptidase inhibitor activity|type 1 angiotensin receptor binding|type 2 angiotensin receptor binding			endometrium(5)|kidney(1)|large_intestine(6)|lung(7)|pancreas(1)|prostate(5)	25	Breast(184;0.0735)|Ovarian(103;0.183)	all_cancers(173;4.64e-23)|all_epithelial(177;3.61e-18)|Breast(1374;0.00093)|all_neural(198;0.0604)|Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;4.4e-06)|Colorectal(1306;5.46e-06)|COAD - Colon adenocarcinoma(196;0.000256)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	Aliskiren(DB01258)|Atorvastatin(DB01076)|Cilazapril(DB01340)|Irbesartan(DB01029)|Lisinopril(DB00722)|Ouabain(DB01092)|Simvastatin(DB00641)	AGCCCTTCATCTTCCCTGAAA	0.607													14	31					4.36969e-10	5.3233e-10	1	1	0	A	230841942	C	A	230841942	3	1	81	1	0	0	0	0	1	0	0	0	396	912	32	4	608	4	AGT	1	230841942	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	19212	230841942	18408679	1497	5113											
AGT	183	broad.mit.edu	37	1	230846149	230846149	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:230846149C>A	ENST00000366667.4	-	2	662	c.448G>T	c.(448-450)Gcc>Tcc	p.A150S		NM_000029.3	NP_000020.1	P01019	ANGT_HUMAN	angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	150					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|blood vessel remodeling|cell-cell signaling|cellular lipid metabolic process|G-protein signaling, coupled to cGMP nucleotide second messenger|kidney development|low-density lipoprotein particle remodeling|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of activation of JAK2 kinase activity|positive regulation of apoptosis|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of cardiac muscle hypertrophy|positive regulation of cholesterol esterification|positive regulation of cytokine production|positive regulation of endothelial cell migration|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of fibroblast proliferation|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein tyrosine kinase activity|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription, DNA-dependent|regulation of proteolysis|regulation of renal output by angiotensin|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|response to muscle activity involved in regulation of muscle adaptation	extracellular space|soluble fraction	acetyltransferase activator activity|growth factor activity|hormone activity|serine-type endopeptidase inhibitor activity|type 1 angiotensin receptor binding|type 2 angiotensin receptor binding			endometrium(5)|kidney(1)|large_intestine(6)|lung(7)|pancreas(1)|prostate(5)	25	Breast(184;0.0735)|Ovarian(103;0.183)	all_cancers(173;4.64e-23)|all_epithelial(177;3.61e-18)|Breast(1374;0.00093)|all_neural(198;0.0604)|Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;4.4e-06)|Colorectal(1306;5.46e-06)|COAD - Colon adenocarcinoma(196;0.000256)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	Aliskiren(DB01258)|Atorvastatin(DB01076)|Cilazapril(DB01340)|Irbesartan(DB01029)|Lisinopril(DB00722)|Ouabain(DB01092)|Simvastatin(DB00641)	TGGTCCAAGGCTCCCAGATAG	0.592													52	60					3.76997e-23	4.9638e-23	1	1	0	A	230846149	C	A	230846149	3	1	81	1	0	0	0	0	1	0	0	0	396	797	28	4	1025	4	AGT	1	230846149	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	4207	230846149	18404472	1498	5114											
CAPN9	10753	broad.mit.edu	37	1	230891088	230891088	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:230891088C>T	ENST00000354537.1	+	2	301	c.219C>T	c.(217-219)atC>atT	p.I73I	RP11-99J16__A.2_ENST00000412344.1_RNA|CAPN9_ENST00000271971.2_Silent_p.I73I|CAPN9_ENST00000366666.2_Intron	NM_016452.1	NP_057536.1	O14815	CAN9_HUMAN	calpain 9	73	Calpain catalytic.				digestion|proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	25	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)				TCCAGGAAATCGTGAAAAACC	0.537													11	39					0	0	1	0	0	T	230891088	C	T	230891088	2	4	81	1	0	0	0	0	0	0	0	1	2650	874	31	1		1	CAPN9	1	230891088	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	44939	230891088	18359533	1499	5115											
CAPN9	10753	broad.mit.edu	37	1	230895265	230895265	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:230895265C>A	ENST00000354537.1	+	3	373	c.291C>A	c.(289-291)tgC>tgA	p.C97*	RP11-99J16__A.2_ENST00000412344.1_RNA|CAPN9_ENST00000271971.2_Nonsense_Mutation_p.C97*|CAPN9_ENST00000366666.2_Intron	NM_016452.1	NP_057536.1	O14815	CAN9_HUMAN	calpain 9	97	Calpain catalytic.				digestion|proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	25	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)				CAGGAGACTGCTGGCTATTAG	0.478													34	35					6.70999e-13	8.41593e-13	1	1	0	A	230895265	C	A	230895265	4	1	81	1	0	0	0	0	0	1	0	0	2650	805	28	4	301	4	CAPN9	1	230895265	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	4177	230895265	18355356	1500	5116											
CAPN9	10753	broad.mit.edu	37	1	230928214	230928214	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:230928214T>G	ENST00000354537.1	+	15	1769	c.1687T>G	c.(1687-1689)Ttc>Gtc	p.F563V	RP11-99J16__A.2_ENST00000452640.1_RNA|CAPN9_ENST00000480004.1_3'UTR|RP11-99J16__A.2_ENST00000428480.1_RNA|RP11-99J16__A.2_ENST00000412344.1_RNA|CAPN9_ENST00000271971.2_Missense_Mutation_p.F589V|CAPN9_ENST00000366666.2_Missense_Mutation_p.F526V	NM_016452.1	NP_057536.1	O14815	CAN9_HUMAN	calpain 9	589	Domain IV.|EF-hand 2.				digestion|proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	25	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)				ATTCAAAGTGTTCTGGGACAA	0.527													13	100					0	0	1	0	0	G	230928214	T	G	230928214	3	3	81	1	0	0	0	0	1	0	0	0	2650	1725	60	5	1827	5	CAPN9	1	230928214	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	32949	230928214	18322407	1501	5117											
C1orf198	84886	broad.mit.edu	37	1	230991457	230991457	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:230991457G>A	ENST00000366663.5	-	2	481	c.341C>T	c.(340-342)aCt>aTt	p.T114I	C1orf198_ENST00000523410.1_5'UTR|C1orf198_ENST00000470540.1_Missense_Mutation_p.T76I|C1orf198_ENST00000427697.2_Intron	NM_032800.2	NP_116189.1	Q9H425	CA198_HUMAN	chromosome 1 open reading frame 198	114										breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	17	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)				ATCTTGCCAAGTTAGATCCTG	0.388													31	112					0	0	1	0	0	A	230991457	G	A	230991457	3	1	81	1	0	0	0	0	1	0	0	0	2039	1029	36	2	654	2	C1orf198	1	230991457	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	63243	230991457	18259164	1502	5118											
TTC13	79573	broad.mit.edu	37	1	231067615	231067615	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:231067615C>T	ENST00000366661.4	-	10	999	c.992G>A	c.(991-993)gGc>gAc	p.G331D	TTC13_ENST00000414259.1_Missense_Mutation_p.G278D|TTC13_ENST00000366662.4_Missense_Mutation_p.G278D	NM_024525.4	NP_078801.3	Q8NBP0	TTC13_HUMAN	tetratricopeptide repeat domain 13	331							binding			central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	39	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)		COAD - Colon adenocarcinoma(196;0.243)		TTCAAAATTGCCCAGTTCTCT	0.398													24	53					0	0	1	0	0	T	231067615	C	T	231067615	3	4	81	1	0	0	0	0	1	0	0	0	16742	739	26	2	1646	2	TTC13	1	231067615	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	76158	231067615	18183006	1503	5119											
ARV1	64801	broad.mit.edu	37	1	231125862	231125862	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:231125862G>T	ENST00000310256.2	+	3	358	c.301G>T	c.(301-303)Gga>Tga	p.G101*	ARV1_ENST00000497753.1_3'UTR|ARV1_ENST00000366658.2_Nonsense_Mutation_p.G61*	NM_022786.1	NP_073623.1	Q9H2C2	ARV1_HUMAN	ARV1 homolog (S. cerevisiae)	101			G -> E (in dbSNP:rs35764859).		sphingolipid metabolic process	integral to membrane				breast(3)|large_intestine(2)|lung(2)	7	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)		COAD - Colon adenocarcinoma(196;0.211)|Colorectal(1306;0.233)		TCAGATCCATGGAAAACTCTG	0.428													7	129					3.09899e-07	3.60815e-07	1	1	0	T	231125862	G	T	231125862	4	4	81	1	0	0	0	0	0	1	0	0	1001	1349	47	5	311	5	ARV1	1	231125862	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	58247	231125862	18124759	1504	5120											
FAM89A	375061	broad.mit.edu	37	1	231155731	231155731	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:231155731C>A	ENST00000366654.4	-	2	467	c.433G>T	c.(433-435)Gag>Tag	p.E145*	FAM89A_ENST00000494111.1_5'UTR	NM_198552.2	NP_940954.1	Q96GI7	FA89A_HUMAN	family with sequence similarity 89, member A	145										endometrium(1)|upper_aerodigestive_tract(1)	2	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)				TATTCCTCCTCTTCATCGAAG	0.592													9	77					3.07112e-06	3.5041e-06	1	1	0	A	231155731	C	A	231155731	4	1	81	1	0	0	0	0	0	1	0	0	5678	922	32	4	125	4	FAM89A	1	231155731	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	29869	231155731	18094890	1505	5121											
TRIM67	440730	broad.mit.edu	37	1	231344960	231344960	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:231344960G>A	ENST00000444294.3	+	8	2939	c.2081G>A	c.(2080-2082)cGc>cAc	p.R694H	TRIM67_ENST00000366652.2_Missense_Mutation_p.R696H|TRIM67_ENST00000366653.5_Missense_Mutation_p.R696H|TRIM67_ENST00000449018.3_Missense_Mutation_p.R634H	NM_001004342.3	NP_001004342.3	Q6ZTA4	TRI67_HUMAN	tripartite motif containing 67	696	B30.2/SPRY.					cytoplasm|cytoskeleton	zinc ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Breast(184;0.0871)	all_cancers(173;0.189)|Prostate(94;0.167)				GACAACAACCGCAGCTGGTTC	0.607													21	20					0	0	1	0	0	A	231344960	G	A	231344960	3	1	81	1	0	0	0	0	1	0	0	0	16601	1087	38	1	2117	1	TRIM67	1	231344960	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	189229	231344960	17905661	1506	5122											
TRIM67	440730	broad.mit.edu	37	1	231349664	231349664	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:231349664G>A	ENST00000444294.3	+	9	3079	c.2221G>A	c.(2221-2223)Gcc>Acc	p.A741T	TRIM67_ENST00000366652.2_Missense_Mutation_p.A743T|TRIM67_ENST00000366653.5_Missense_Mutation_p.A743T|TRIM67_ENST00000449018.3_Missense_Mutation_p.A681T	NM_001004342.3	NP_001004342.3	Q6ZTA4	TRI67_HUMAN	tripartite motif containing 67	743	B30.2/SPRY.					cytoplasm|cytoskeleton	zinc ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Breast(184;0.0871)	all_cancers(173;0.189)|Prostate(94;0.167)				GGGCCCCACAGCCTTCAGCCA	0.652													7	42					0	0	1	0	0	A	231349664	G	A	231349664	3	1	81	1	0	0	0	0	1	0	0	0	16601	971	34	2	2261	2	TRIM67	1	231349664	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	4704	231349664	17900957	1507	5123											
C1orf131	128061	broad.mit.edu	37	1	231362753	231362753	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:231362753A>G	ENST00000318906.2	-	4	600	c.572T>C	c.(571-573)cTg>cCg	p.L191P	C1orf131_ENST00000366649.2_Missense_Mutation_p.L191P|C1orf131_ENST00000366651.3_Missense_Mutation_p.L190P			Q8NDD1	CA131_HUMAN	chromosome 1 open reading frame 131	191										breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)	8	Breast(184;0.0871)	all_cancers(173;0.2)|Prostate(94;0.183)				TTCCTGTTCCAGGATTCTCTC	0.483													20	45					0	0	1	0	0	G	231362753	A	G	231362753	3	3	81	1	0	0	0	0	1	0	0	0	2011	188	7	3	325	3	C1orf131	1	231362753	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	13089	231362753	17887868	1508	5124											
EXOC8	149371	broad.mit.edu	37	1	231472057	231472057	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:231472057C>T	ENST00000366645.1	-	1	1541	c.1423G>A	c.(1423-1425)Gca>Aca	p.A475T	EXOC8_ENST00000360394.2_Missense_Mutation_p.A479T			Q8IYI6	EXOC8_HUMAN	exocyst complex component 8	479					exocytosis|protein transport	growth cone|nucleus	protein binding			cervix(2)|endometrium(1)|large_intestine(2)|liver(1)|lung(5)|prostate(1)|skin(1)|stomach(1)	14	Breast(184;0.0871)	all_cancers(173;0.151)|Prostate(94;0.183)				TCAGTGCCTGCAAAATCGATC	0.478													6	28					0	0	1	0	0	T	231472057	C	T	231472057	3	4	81	1	0	0	0	0	1	0	0	0	5338	710	25	2	746	2	EXOC8	1	231472057	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	109304	231472057	17778564	1509	5125											
EXOC8	149371	broad.mit.edu	37	1	231472244	231472244	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:231472244C>T	ENST00000366645.1	-	1	1354	c.1236G>A	c.(1234-1236)tcG>tcA	p.S412S	EXOC8_ENST00000360394.2_Silent_p.S416S			Q8IYI6	EXOC8_HUMAN	exocyst complex component 8	416					exocytosis|protein transport	growth cone|nucleus	protein binding			cervix(2)|endometrium(1)|large_intestine(2)|liver(1)|lung(5)|prostate(1)|skin(1)|stomach(1)	14	Breast(184;0.0871)	all_cancers(173;0.151)|Prostate(94;0.183)				GGATCAGTTGCGAAACTGCTC	0.552													7	53					0	0	1	0	0	T	231472244	C	T	231472244	2	4	81	1	0	0	0	0	0	0	0	1	5338	755	27	1		1	EXOC8	1	231472244	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	187	231472244	17778377	1510	5126											
EXOC8	149371	broad.mit.edu	37	1	231472501	231472501	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:231472501C>A	ENST00000366645.1	-	1	1097	c.979G>T	c.(979-981)Gac>Tac	p.D327Y	EXOC8_ENST00000360394.2_Missense_Mutation_p.D331Y			Q8IYI6	EXOC8_HUMAN	exocyst complex component 8	331					exocytosis|protein transport	growth cone|nucleus	protein binding			cervix(2)|endometrium(1)|large_intestine(2)|liver(1)|lung(5)|prostate(1)|skin(1)|stomach(1)	14	Breast(184;0.0871)	all_cancers(173;0.151)|Prostate(94;0.183)				ATGGAGAGGTCCACCTTCTCT	0.522													36	73					8.16904e-11	1.00477e-10	1	1	0	A	231472501	C	A	231472501	3	1	81	1	0	0	0	0	1	0	0	0	5338	855	30	5	1190	5	EXOC8	1	231472501	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	257	231472501	17778120	1511	5127											
DISC1	27185	broad.mit.edu	37	1	231829962	231829962	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:231829962C>A	ENST00000439617.2	+	2	511	c.458C>A	c.(457-459)tCt>tAt	p.S153Y	DISC1_ENST00000366633.3_Missense_Mutation_p.S153Y|DISC1_ENST00000602281.1_Missense_Mutation_p.S153Y|DISC1_ENST00000317586.4_Missense_Mutation_p.S153Y|DISC1_ENST00000537876.1_Missense_Mutation_p.S153Y|DISC1_ENST00000366637.3_5'UTR|TSNAX-DISC1_ENST00000602962.1_3'UTR|DISC1_ENST00000535983.1_Missense_Mutation_p.S153Y|DISC1_ENST00000602873.1_Intron|DISC1_ENST00000366636.4_Missense_Mutation_p.S153Y|DISC1_ENST00000539444.1_Missense_Mutation_p.S153Y	NM_001164537.1|NM_001164540.1|NM_018662.2	NP_001158009.1|NP_001158012.1|NP_061132.2	Q9NRI5	DISC1_HUMAN	disrupted in schizophrenia 1	153	Interaction with MAP1A.				microtubule cytoskeleton organization|neuron migration|positive regulation of neuroblast proliferation|positive regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	centrosome|microtubule	protein binding			breast(1)|cervix(1)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15		all_cancers(173;0.0208)|Prostate(94;0.0975)				ATGGATAGTTCTGAGACCCTG	0.612													10	26					7.03913e-09	8.42519e-09	1	1	0	A	231829962	C	A	231829962	3	1	81	1	0	0	0	0	1	0	0	0	4566	913	32	4	464	4	DISC1	1	231829962	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	357461	231829962	17420659	1512	5128											
DISC1	27185	broad.mit.edu	37	1	231837741	231837741	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:231837741A>G	ENST00000439617.2	+	3	1141	c.1088A>G	c.(1087-1089)gAt>gGt	p.D363G	DISC1_ENST00000366633.3_Missense_Mutation_p.D363G|DISC1_ENST00000602281.1_Missense_Mutation_p.D363G|DISC1_ENST00000317586.4_Intron|DISC1_ENST00000537876.1_Missense_Mutation_p.D363G|DISC1_ENST00000366637.3_5'UTR|TSNAX-DISC1_ENST00000602962.1_3'UTR|DISC1_ENST00000535983.1_Missense_Mutation_p.D363G|DISC1_ENST00000602873.1_Intron|DISC1_ENST00000366636.4_Missense_Mutation_p.D363G|DISC1_ENST00000539444.1_Missense_Mutation_p.D363G	NM_001164537.1|NM_001164540.1|NM_018662.2	NP_001158009.1|NP_001158012.1|NP_061132.2	Q9NRI5	DISC1_HUMAN	disrupted in schizophrenia 1	363	Interaction with TRAF3IP1.				microtubule cytoskeleton organization|neuron migration|positive regulation of neuroblast proliferation|positive regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	centrosome|microtubule	protein binding			breast(1)|cervix(1)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15		all_cancers(173;0.0208)|Prostate(94;0.0975)				CTTCAGGAAGATGCAGTTGAG	0.274													7	43					0	0	1	0	0	G	231837741	A	G	231837741	3	3	81	1	0	0	0	0	1	0	0	0	4566	333	12	3	1098	3	DISC1	1	231837741	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	7779	231837741	17412880	1513	5129											
SIPA1L2	57568	broad.mit.edu	37	1	232551265	232551265	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:232551265G>A	ENST00000366630.1	-	18	5095	c.4737C>T	c.(4735-4737)ctC>ctT	p.L1579L	SIPA1L2_ENST00000308942.4_Silent_p.L653L|SIPA1L2_ENST00000262861.4_Silent_p.L1579L			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	1579					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	p.L1579L(2)		NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				CAGCATCCACGAGGTGGGTCC	0.582													8	55					0	0	1	0	0	A	232551265	G	A	232551265	2	1	81	1	0	0	0	0	0	0	0	1	14385	1045	37	1		1	SIPA1L2	1	232551265	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	713524	232551265	16699356	1514	5130											
SIPA1L2	57568	broad.mit.edu	37	1	232649691	232649691	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:232649691C>T	ENST00000366630.1	-	2	1753	c.1395G>A	c.(1393-1395)caG>caA	p.Q465Q	SIPA1L2_ENST00000262861.4_Silent_p.Q465Q			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	465					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				TGTGAATAGGCTGGTTTTCTC	0.478													80	86					0	0	1	0	0	T	232649691	C	T	232649691	2	4	81	1	0	0	0	0	0	0	0	1	14385	796	28	2		2	SIPA1L2	1	232649691	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	98426	232649691	16600930	1515	5131											
SIPA1L2	57568	broad.mit.edu	37	1	232650749	232650749	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:232650749C>T	ENST00000366630.1	-	2	695	c.337G>A	c.(337-339)Gtc>Atc	p.V113I	SIPA1L2_ENST00000262861.4_Missense_Mutation_p.V113I			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	113					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				TTCTGCAGGACAGAAGTGATG	0.502													39	101					0	0	1	0	0	T	232650749	C	T	232650749	3	4	81	1	0	0	0	0	1	0	0	0	14385	478	17	2	4915	2	SIPA1L2	1	232650749	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1058	232650749	16599872	1516	5132											
PCNXL2	80003	broad.mit.edu	37	1	233134179	233134179	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:233134179C>T	ENST00000258229.9	-	32	5843	c.5609G>A	c.(5608-5610)cGg>cAg	p.R1870Q	PCNXL2_ENST00000344698.2_Missense_Mutation_p.R522Q	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)							integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				GCAATCCTTCCGCATCCTGTG	0.582													18	25					0	0	1	0	0	T	233134179	C	T	233134179	3	4	81	1	0	0	0	0	1	0	0	0	11639	652	23	1	816	1	PCNXL2	1	233134179	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	483430	233134179	16116442	1517	5133											
PCNXL2	80003	broad.mit.edu	37	1	233314861	233314861	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:233314861C>T	ENST00000258229.9	-	16	3361	c.3127G>A	c.(3127-3129)Gcc>Acc	p.A1043T	PCNXL2_ENST00000488780.2_Missense_Mutation_p.A176T	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)							integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				TAAGAAAGGGCGACCAAGAGG	0.527													14	39					0	0	1	0	0	T	233314861	C	T	233314861	3	4	81	1	0	0	0	0	1	0	0	0	11639	768	27	1	3362	1	PCNXL2	1	233314861	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	180682	233314861	15935760	1518	5134											
PCNXL2	80003	broad.mit.edu	37	1	233344278	233344278	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:233344278C>A	ENST00000258229.9	-	13	3083	c.2849G>T	c.(2848-2850)aGg>aTg	p.R950M	PCNXL2_ENST00000488780.2_Missense_Mutation_p.R83M|PCNXL2_ENST00000430153.1_Missense_Mutation_p.R249M	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)							integral to membrane		p.R950M(1)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				TAAGTAGTCCCTAGCTGATTG	0.463													6	30					0.0215528	0.0221217	1	1	0	A	233344278	C	A	233344278	3	1	81	1	0	0	0	0	1	0	0	0	11639	681	24	4	3652	4	PCNXL2	1	233344278	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	29417	233344278	15906343	1519	5135											
PCNXL2	80003	broad.mit.edu	37	1	233353846	233353846	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:233353846G>T	ENST00000258229.9	-	11	2823	c.2589C>A	c.(2587-2589)ggC>ggA	p.G863G	PCNXL2_ENST00000430153.1_Silent_p.G162G	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)							integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				CTTTGCAAAAGCCTTGGCTCA	0.463													3	7					0.150653	0.152522	1	1	0	T	233353846	G	T	233353846	2	4	81	1	0	0	0	0	0	0	0	1	11639	958	34	4		4	PCNXL2	1	233353846	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	9568	233353846	15896775	1520	5136											
PCNXL2	80003	broad.mit.edu	37	1	233394057	233394057	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:233394057C>T	ENST00000258229.9	-	5	1785	c.1551G>A	c.(1549-1551)tcG>tcA	p.S517S	PCNXL2_ENST00000430153.1_5'UTR	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)							integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				ACTTACAAGACGATGGGTCAA	0.522													26	34					0	0	1	0	0	T	233394057	C	T	233394057	2	4	81	1	0	0	0	0	0	0	0	1	11639	523	19	1		1	PCNXL2	1	233394057	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	40211	233394057	15856564	1521	5137											
PCNXL2	80003	broad.mit.edu	37	1	233394358	233394358	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:233394358G>A	ENST00000258229.9	-	5	1484	c.1250C>T	c.(1249-1251)gCg>gTg	p.A417V	PCNXL2_ENST00000430153.1_5'UTR	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)							integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				AGAACCGGCCGCCCCTGGGTT	0.572													41	88					0	0	1	0	0	A	233394358	G	A	233394358	3	1	81	1	0	0	0	0	1	0	0	0	11639	1087	38	1	5283	1	PCNXL2	1	233394358	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	301	233394358	15856263	1522	5138											
KIAA1804	84451	broad.mit.edu	37	1	233518142	233518142	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:233518142A>G	ENST00000366624.3	+	10	3057	c.2796A>G	c.(2794-2796)tcA>tcG	p.S932S	MLK4_ENST00000366622.1_Silent_p.S378S	NM_032435.2	NP_115811.2																					GGGAGGTCTCACCCAAGAAGC	0.592													11	49					0	0	1	0	0	G	233518142	A	G	233518142	2	3	81	1	0	0	0	0	0	0	0	1	8301	146	6	3		3	KIAA1804	1	233518142	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	123784	233518142	15732479	1523	5139											
KCNK1	3775	broad.mit.edu	37	1	233802625	233802625	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:233802625G>A	ENST00000366621.3	+	2	808	c.640G>A	c.(640-642)Gaa>Aaa	p.E214K	KCNK1_ENST00000366620.1_Missense_Mutation_p.E98K|KCNK1_ENST00000472190.1_3'UTR	NM_002245.3	NP_002236.1	O00180	KCNK1_HUMAN	potassium channel, subfamily K, member 1	214						voltage-gated potassium channel complex	inward rectifier potassium channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	11		all_cancers(173;0.00217)|all_epithelial(177;0.121)|Prostate(94;0.122)|Acute lymphoblastic leukemia(190;0.175)			Ibutilide(DB00308)|Quinidine(DB00908)	GAACTTCCTGGAATCCTTTTA	0.483													28	69					0	0	1	0	0	A	233802625	G	A	233802625	3	1	81	1	0	0	0	0	1	0	0	0	8102	1175	41	2	646	2	KCNK1	1	233802625	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	284483	233802625	15447996	1524	5140											
TARBP1	6894	broad.mit.edu	37	1	234556471	234556471	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:234556471C>A	ENST00000040877.1	-	21	3531	c.3532G>T	c.(3532-3534)Gta>Tta	p.V1178L		NM_005646.3	NP_005637.3	Q13395	TARB1_HUMAN	TAR (HIV-1) RNA binding protein 1	1178					regulation of transcription from RNA polymerase II promoter|RNA processing	nucleus	RNA binding|RNA methyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)			GGGAAAAGTACCAGCAGAGTC	0.368													11	77					9.05144e-12	1.12483e-11	1	1	0	A	234556471	C	A	234556471	3	1	81	1	0	0	0	0	1	0	0	0	15612	507	18	5	1373	5	TARBP1	1	234556471	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	753846	234556471	14694150	1525	5141											
ARID4B	51742	broad.mit.edu	37	1	235377287	235377287	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:235377287C>T	ENST00000264183.3	-	17	2135	c.1638G>A	c.(1636-1638)gaG>gaA	p.E546E	ARID4B_ENST00000349213.3_Intron|ARID4B_ENST00000366603.2_Silent_p.E546E	NM_016374.5	NP_057458.4	Q4LE39	ARI4B_HUMAN	AT rich interactive domain 4B (RBP1-like)	546	Glu-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding			NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)			cttcctcctcctcctcctctt	0.393													46	50					0	0	1	0	0	T	235377287	C	T	235377287	2	4	81	1	0	0	0	0	0	0	0	1	917	680	24	2		2	ARID4B	1	235377287	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	820816	235377287	13873334	1526	5142											
ARID4B	51742	broad.mit.edu	37	1	235383757	235383757	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:235383757C>T	ENST00000264183.3	-	15	1764	c.1267G>A	c.(1267-1269)Gta>Ata	p.V423I	ARID4B_ENST00000349213.3_Missense_Mutation_p.V423I|ARID4B_ENST00000366603.2_Missense_Mutation_p.V423I	NM_016374.5	NP_057458.4	Q4LE39	ARI4B_HUMAN	AT rich interactive domain 4B (RBP1-like)	423	Glu-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding			NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)			ATTTCTTTTACATTTTCACAC	0.343													6	55					0	0	1	0	0	T	235383757	C	T	235383757	3	4	81	1	0	0	0	0	1	0	0	0	917	478	17	2	2711	2	ARID4B	1	235383757	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	6470	235383757	13866864	1527	5143											
B3GALNT2	148789	broad.mit.edu	37	1	235647671	235647671	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:235647671G>A	ENST00000366600.3	-	4	750	c.522C>T	c.(520-522)aaC>aaT	p.N174N	B3GALNT2_ENST00000494378.1_5'UTR|B3GALNT2_ENST00000313984.3_Silent_p.N215N	NM_152490.2	NP_689703.1	Q8NCR0	B3GL2_HUMAN	beta-1,3-N-acetylgalactosaminyltransferase 2	174					protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity			NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	18	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.0539)|Prostate(94;0.0353)	OV - Ovarian serous cystadenocarcinoma(106;0.000117)			TGACAGTGATGTTCCTCTGGA	0.423													44	72					0	0	1	0	0	A	235647671	G	A	235647671	2	1	81	1	0	0	0	0	0	0	0	1	1244	1368	48	2		2	B3GALNT2	1	235647671	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	263914	235647671	13602950	1528	5144											
LYST	1130	broad.mit.edu	37	1	235827839	235827839	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:235827839G>A	ENST00000389794.3	-	51	11295	c.11121C>T	c.(11119-11121)tcC>tcT	p.S3707S	LYST_ENST00000389793.2_Silent_p.S3707S|LYST_ENST00000473037.1_5'UTR			Q99698	LYST_HUMAN	lysosomal trafficking regulator	3707					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			AGAAAGCCACGGAACAGATGA	0.478													32	34					0	0	1	0	0	A	235827839	G	A	235827839	2	1	81	1	0	0	0	0	0	0	0	1	9174	1103	39	1		1	LYST	1	235827839	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	180168	235827839	13422782	1529	5145											
LYST	1130	broad.mit.edu	37	1	235922652	235922652	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:235922652G>T	ENST00000389794.3	-	23	6675	c.6501C>A	c.(6499-6501)agC>agA	p.S2167R	LYST_ENST00000389793.2_Missense_Mutation_p.S2167R|LYST_ENST00000536965.1_3'UTR			Q99698	LYST_HUMAN	lysosomal trafficking regulator	2167					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			CAGACTCACAGCTACTGATGA	0.453													8	124					5.4927e-09	6.5834e-09	1	1	0	T	235922652	G	T	235922652	3	4	81	1	0	0	0	0	1	0	0	0	9174	962	34	4	5028	4	LYST	1	235922652	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	94813	235922652	13327969	1530	5146											
LYST	1130	broad.mit.edu	37	1	235922740	235922740	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:235922740G>T	ENST00000389794.3	-	23	6587	c.6413C>A	c.(6412-6414)aCt>aAt	p.T2138N	LYST_ENST00000389793.2_Missense_Mutation_p.T2138N|LYST_ENST00000536965.1_3'UTR			Q99698	LYST_HUMAN	lysosomal trafficking regulator	2138					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			GGCAACATAAGTATCTGCAAT	0.418													54	66					4.1673e-28	5.54132e-28	1	1	0	T	235922740	G	T	235922740	3	4	81	1	0	0	0	0	1	0	0	0	9174	1029	36	4	5116	4	LYST	1	235922740	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	88	235922740	13327881	1531	5147											
LYST	1130	broad.mit.edu	37	1	235926125	235926125	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:235926125G>A	ENST00000389794.3	-	22	6322	c.6148C>T	c.(6148-6150)Cgg>Tgg	p.R2050W	LYST_ENST00000389793.2_Missense_Mutation_p.R2050W|LYST_ENST00000536965.1_3'UTR			Q99698	LYST_HUMAN	lysosomal trafficking regulator	2050					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding	p.R2050W(1)		NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			ATGATTGACCGCACTTTCTCC	0.373													18	36					0	0	1	0	0	A	235926125	G	A	235926125	3	1	81	1	0	0	0	0	1	0	0	0	9174	1086	38	1	5385	1	LYST	1	235926125	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	3385	235926125	13324496	1532	5148											
LYST	1130	broad.mit.edu	37	1	235929518	235929518	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:235929518T>C	ENST00000389794.3	-	21	6156	c.5982A>G	c.(5980-5982)aaA>aaG	p.K1994K	LYST_ENST00000389793.2_Silent_p.K1994K|LYST_ENST00000536965.1_3'UTR			Q99698	LYST_HUMAN	lysosomal trafficking regulator	1994					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			CTGCTATAATTTTCACAAATG	0.353													150	159					0	0	1	0	0	C	235929518	T	C	235929518	2	2	81	1	0	0	0	0	0	0	0	1	9174	1838	64	3		3	LYST	1	235929518	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	3393	235929518	13321103	1533	5149											
LYST	1130	broad.mit.edu	37	1	235969400	235969400	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:235969400C>A	ENST00000389794.3	-	6	3210	c.3036G>T	c.(3034-3036)aaG>aaT	p.K1012N	LYST_ENST00000389793.2_Missense_Mutation_p.K1012N|LYST_ENST00000536965.1_Missense_Mutation_p.K1012N			Q99698	LYST_HUMAN	lysosomal trafficking regulator	1012					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			TATCTCCCTCCTTTTTTCCTT	0.333													45	71					2.24893e-16	2.88725e-16	1	1	0	A	235969400	C	A	235969400	3	1	81	1	0	0	0	0	1	0	0	0	9174	680	24	4	8561	4	LYST	1	235969400	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	39882	235969400	13281221	1534	5150											
LYST	1130	broad.mit.edu	37	1	235969487	235969487	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:235969487C>T	ENST00000389794.3	-	6	3123	c.2949G>A	c.(2947-2949)agG>agA	p.R983R	LYST_ENST00000389793.2_Silent_p.R983R|LYST_ENST00000536965.1_Silent_p.R983R			Q99698	LYST_HUMAN	lysosomal trafficking regulator	983					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			AACCACCAAGCCTATAAAACT	0.398													27	50					0	0	1	0	0	T	235969487	C	T	235969487	2	4	81	1	0	0	0	0	0	0	0	1	9174	738	26	2		2	LYST	1	235969487	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	87	235969487	13281134	1535	5151											
LYST	1130	broad.mit.edu	37	1	235972444	235972444	+	Silent	SNP	C	C	T	rs149520131		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:235972444C>T	ENST00000389794.3	-	5	1848	c.1674G>A	c.(1672-1674)ttG>ttA	p.L558L	LYST_ENST00000389793.2_Silent_p.L558L|LYST_ENST00000536965.1_Silent_p.L558L			Q99698	LYST_HUMAN	lysosomal trafficking regulator	558					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			GTAGTAAGCGCAAGCACTGAT	0.453													13	91					0	0	1	0	0	T	235972444	C	T	235972444	2	4	81	1	0	0	0	0	0	0	0	1	9174	709	25	2		2	LYST	1	235972444	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2957	235972444	13278177	1536	5152											
LYST	1130	broad.mit.edu	37	1	235973133	235973133	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:235973133G>A	ENST00000389794.3	-	5	1159	c.985C>T	c.(985-987)Cga>Tga	p.R329*	LYST_ENST00000389793.2_Nonsense_Mutation_p.R329*|LYST_ENST00000536965.1_Nonsense_Mutation_p.R329*			Q99698	LYST_HUMAN	lysosomal trafficking regulator	329					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding	p.R329R(1)|p.R329*(1)		NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			AACACTGTTCGAAAGAGCATC	0.438													18	17					0	0	1	0	0	A	235973133	G	A	235973133	4	1	81	1	0	0	0	0	0	1	0	0	9174	1066	37	1	10616	1	LYST	1	235973133	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	689	235973133	13277488	1537	5153											
NID1	4811	broad.mit.edu	37	1	236143157	236143157	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:236143157G>A	ENST00000264187.6	-	18	3556	c.3474C>T	c.(3472-3474)agC>agT	p.S1158S	NID1_ENST00000366595.3_Silent_p.S1025S	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	1158					cell-matrix adhesion	basement membrane	calcium ion binding			breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Becaplermin(DB00102)|Urokinase(DB00013)	TCTTCCCGTAGCTCGTCACAG	0.597													22	46					0	0	1	0	0	A	236143157	G	A	236143157	2	1	81	1	0	0	0	0	0	0	0	1	10461	962	34	2		2	NID1	1	236143157	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	170024	236143157	13107464	1538	5154											
NID1	4811	broad.mit.edu	37	1	236175274	236175274	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:236175274G>A	ENST00000264187.6	-	12	2556	c.2474C>T	c.(2473-2475)aCg>aTg	p.T825M	NID1_ENST00000366595.3_Intron	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	825	EGF-like 5; calcium-binding (Potential).				cell-matrix adhesion	basement membrane	calcium ion binding			breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Becaplermin(DB00102)|Urokinase(DB00013)	GCACTGGCACGTGAAAGAGCC	0.567													21	23					0	0	1	0	0	A	236175274	G	A	236175274	3	1	81	1	0	0	0	0	1	0	0	0	10461	1145	40	1	1305	1	NID1	1	236175274	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	32117	236175274	13075347	1539	5155											
NID1	4811	broad.mit.edu	37	1	236205240	236205240	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:236205240C>A	ENST00000264187.6	-	4	1187	c.1105G>T	c.(1105-1107)Gat>Tat	p.D369Y	NID1_ENST00000366595.3_Missense_Mutation_p.D369Y	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	369					cell-matrix adhesion	basement membrane	calcium ion binding			breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Becaplermin(DB00102)|Urokinase(DB00013)	TCATCCACATCTATGACCTGA	0.532													6	68					1.26484e-09	1.5311e-09	1	1	0	A	236205240	C	A	236205240	3	1	81	1	0	0	0	0	1	0	0	0	10461	913	32	4	2706	4	NID1	1	236205240	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	29966	236205240	13045381	1540	5156											
ERO1LB	56605	broad.mit.edu	37	1	236389961	236389961	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:236389961T>G	ENST00000354619.5	-	11	992	c.791A>C	c.(790-792)aAt>aCt	p.N264T		NM_019891.3	NP_063944.3	Q86YB8	ERO1B_HUMAN	ERO1-like beta (S. cerevisiae)	264					electron transport chain|protein thiol-disulfide exchange|transport	endoplasmic reticulum membrane	flavin adenine dinucleotide binding|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor|unfolded protein binding			NS(1)|endometrium(3)|large_intestine(8)|lung(8)|skin(2)|urinary_tract(1)	23	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.123)|Acute lymphoblastic leukemia(190;0.205)|Prostate(94;0.219)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)			CAAAAGATAATTTGCGCATAG	0.299													41	65					0	0	1	0	0	G	236389961	T	G	236389961	3	3	81	1	0	0	0	0	1	0	0	0	5268	1493	52	4	636	4	ERO1LB	1	236389961	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	184721	236389961	12860660	1541	5157											
LGALS8	3964	broad.mit.edu	37	1	236702282	236702282	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:236702282A>G	ENST00000526589.1	+	7	758	c.238A>G	c.(238-240)Act>Gct	p.T80A	LGALS8_ENST00000450372.2_Missense_Mutation_p.T80A|LGALS8_ENST00000352231.2_Missense_Mutation_p.T80A|LGALS8_ENST00000525042.1_Missense_Mutation_p.T80A|LGALS8_ENST00000366584.4_Missense_Mutation_p.T80A|LGALS8_ENST00000416919.2_Missense_Mutation_p.T80A|LGALS8_ENST00000323938.6_Missense_Mutation_p.T53A|LGALS8_ENST00000526634.1_Missense_Mutation_p.T80A|LGALS8_ENST00000341872.6_Missense_Mutation_p.T80A|LGALS8_ENST00000527974.1_Missense_Mutation_p.T80A			O00214	LEG8_HUMAN	lectin, galactoside-binding, soluble, 8	80	Galectin 1.					cytoplasm|extracellular space	sugar binding			kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(5)	20	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.0253)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			TGTTTGCAATACTTTGATAAA	0.453													46	32					0	0	1	0	0	G	236702282	A	G	236702282	3	3	81	1	0	0	0	0	1	0	0	0	8787	391	14	3	248	3	LGALS8	1	236702282	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	312321	236702282	12548339	1542	5158											
LGALS8	3964	broad.mit.edu	37	1	236702296	236702296	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:236702296A>G	ENST00000526589.1	+	7	772	c.252A>G	c.(250-252)gaA>gaG	p.E84E	LGALS8_ENST00000450372.2_Silent_p.E84E|LGALS8_ENST00000352231.2_Silent_p.E84E|LGALS8_ENST00000525042.1_Silent_p.E84E|LGALS8_ENST00000366584.4_Silent_p.E84E|LGALS8_ENST00000416919.2_Silent_p.E84E|LGALS8_ENST00000323938.6_Silent_p.E57E|LGALS8_ENST00000526634.1_Silent_p.E84E|LGALS8_ENST00000341872.6_Silent_p.E84E|LGALS8_ENST00000527974.1_Silent_p.E84E			O00214	LEG8_HUMAN	lectin, galactoside-binding, soluble, 8	84	Galectin 1.					cytoplasm|extracellular space	sugar binding			kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(5)	20	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.0253)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			TGATAAATGAAAAATGGGGAC	0.438													44	36					0	0	1	0	0	G	236702296	A	G	236702296	2	3	81	1	0	0	0	0	0	0	0	1	8787	11	1	3		3	LGALS8	1	236702296	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	14	236702296	12548325	1543	5159											
HEATR1	55127	broad.mit.edu	37	1	236722336	236722336	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:236722336T>C	ENST00000366582.3	-	35	4984	c.4870A>G	c.(4870-4872)Aat>Gat	p.N1624D	HEATR1_ENST00000366581.2_Missense_Mutation_p.N1543D	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	1624					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			AGCTTGTTATTCAAAAGGTCC	0.483													45	56					0	0	1	0	0	C	236722336	T	C	236722336	3	2	81	1	0	0	0	0	1	0	0	0	7068	1783	62	3	1608	3	HEATR1	1	236722336	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	20040	236722336	12528285	1544	5160											
HEATR1	55127	broad.mit.edu	37	1	236738000	236738000	+	Silent	SNP	G	G	A	rs145524497		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:236738000G>A	ENST00000366582.3	-	23	3402	c.3288C>T	c.(3286-3288)taC>taT	p.Y1096Y	HEATR1_ENST00000366581.2_Intron	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	1096					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			GCATTCCCGCGTAAAGTTCCT	0.383													57	52					0	0	1	0	0	A	236738000	G	A	236738000	2	1	81	1	0	0	0	0	0	0	0	1	7068	1140	40	1		1	HEATR1	1	236738000	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	15664	236738000	12512621	1545	5161											
ACTN2	88	broad.mit.edu	37	1	236881218	236881218	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:236881218G>A	ENST00000366578.4	+	2	353	c.187G>A	c.(187-189)Gag>Aag	p.E63K	ACTN2_ENST00000492634.1_3'UTR|ACTN2_ENST00000542672.1_Missense_Mutation_p.E63K	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	63	Actin-binding.|CH 1.				focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding			endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			TGAGAACATCGAGGAAGACTT	0.468													9	13					0	0	1	0	0	A	236881218	G	A	236881218	3	1	81	1	0	0	0	0	1	0	0	0	205	1059	37	1	193	1	ACTN2	1	236881218	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	143218	236881218	12369403	1546	5162											
ACTN2	88	broad.mit.edu	37	1	236902708	236902708	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:236902708G>A	ENST00000366578.4	+	10	1149	c.983G>A	c.(982-984)cGg>cAg	p.R328Q	ACTN2_ENST00000492634.1_3'UTR|ACTN2_ENST00000542672.1_Missense_Mutation_p.R328Q|ACTN2_ENST00000546208.1_Intron	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	328					focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding			endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			GATTACCGCCGGAAGCACAAG	0.577													7	80					0	0	1	0	0	A	236902708	G	A	236902708	3	1	81	1	0	0	0	0	1	0	0	0	205	1116	39	1	1021	1	ACTN2	1	236902708	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	21490	236902708	12347913	1547	5163											
ACTN2	88	broad.mit.edu	37	1	236912466	236912466	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:236912466G>A	ENST00000366578.4	+	14	1724	c.1558G>A	c.(1558-1560)Gag>Aag	p.E520K	ACTN2_ENST00000542672.1_Missense_Mutation_p.E520K|ACTN2_ENST00000546208.1_Missense_Mutation_p.E14K	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	520					focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding			endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			GCTTCACCTGGAGTTTGCCAA	0.408													22	63					0	0	1	0	0	A	236912466	G	A	236912466	3	1	81	1	0	0	0	0	1	0	0	0	205	1175	41	2	1612	2	ACTN2	1	236912466	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	9758	236912466	12338155	1548	5164											
ACTN2	88	broad.mit.edu	37	1	236914862	236914862	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:236914862G>T	ENST00000366578.4	+	15	1915	c.1749G>T	c.(1747-1749)gaG>gaT	p.E583D	ACTN2_ENST00000542672.1_Missense_Mutation_p.E583D|ACTN2_ENST00000546208.1_Missense_Mutation_p.E77D	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	583					focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding			endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			ACGAGGTGGAGAAGGTGATTC	0.577													9	57					1.76689e-08	2.10148e-08	1	1	0	T	236914862	G	T	236914862	3	4	81	1	0	0	0	0	1	0	0	0	205	933	33	4	1807	4	ACTN2	1	236914862	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2396	236914862	12335759	1549	5165											
ACTN2	88	broad.mit.edu	37	1	236917269	236917269	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:236917269G>A	ENST00000366578.4	+	16	2028	c.1862G>A	c.(1861-1863)cGc>cAc	p.R621H	ACTN2_ENST00000542672.1_Missense_Mutation_p.R621H|ACTN2_ENST00000546208.1_Missense_Mutation_p.R115H	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	621					focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding			endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			GTGCCCATCCGCGATCAATCC	0.587													36	90					0	0	1	0	0	A	236917269	G	A	236917269	3	1	81	1	0	0	0	0	1	0	0	0	205	1087	38	1	1924	1	ACTN2	1	236917269	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2407	236917269	12333352	1550	5166											
ACTN2	88	broad.mit.edu	37	1	236924466	236924466	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:236924466C>T	ENST00000366578.4	+	20	2685	c.2519C>T	c.(2518-2520)tCt>tTt	p.S840F	ACTN2_ENST00000542672.1_Missense_Mutation_p.S840F|ACTN2_ENST00000546208.1_Missense_Mutation_p.S334F	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	840					focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding			endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			ATCCTGGCTTCTGATAAGGTC	0.473													25	24					0	0	1	0	0	T	236924466	C	T	236924466	3	4	81	1	0	0	0	0	1	0	0	0	205	913	32	2	2597	2	ACTN2	1	236924466	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	7197	236924466	12326155	1551	5167											
MTR	4548	broad.mit.edu	37	1	236966835	236966835	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:236966835G>A	ENST00000366577.5	+	2	536	c.142G>A	c.(142-144)Gaa>Aaa	p.E48K	MTR_ENST00000418145.2_Intron|MTR_ENST00000535889.1_Missense_Mutation_p.E48K	NM_000254.2	NP_000245.2	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase	48	Hcy-binding.				nervous system development|xenobiotic metabolic process	cytosol	cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	67	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)	GAAGCTAAACGAAGAACACTT	0.463													49	49					0	0	1	0	0	A	236966835	G	A	236966835	3	1	81	1	0	0	0	0	1	0	0	0	10006	1059	37	1	148	1	MTR	1	236966835	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	42369	236966835	12283786	1552	5168											
MTR	4548	broad.mit.edu	37	1	237001797	237001797	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:237001797C>T	ENST00000366577.5	+	15	1807	c.1413C>T	c.(1411-1413)agC>agT	p.S471S	MTR_ENST00000535889.1_Silent_p.S471S	NM_000254.2	NP_000245.2	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase	471	Pterin-binding.				nervous system development|xenobiotic metabolic process	cytosol	cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	67	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)	TTGTCAATAGCATTAGTCTGA	0.458													40	99					0	0	1	0	0	T	237001797	C	T	237001797	2	4	81	1	0	0	0	0	0	0	0	1	10006	709	25	2		2	MTR	1	237001797	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	34962	237001797	12248824	1553	5169											
MTR	4548	broad.mit.edu	37	1	237023145	237023145	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:237023145G>T	ENST00000366577.5	+	19	2360	c.1966G>T	c.(1966-1968)Gga>Tga	p.G656*	MTR_ENST00000535889.1_Nonsense_Mutation_p.G656*	NM_000254.2	NP_000245.2	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase	656					nervous system development|xenobiotic metabolic process	cytosol	cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding	p.G656*(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	67	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)	TCAAGGCACAGGAGGGAAGAA	0.423													22	38					5.35356e-11	6.60132e-11	1	1	0	T	237023145	G	T	237023145	4	4	81	1	0	0	0	0	0	1	0	0	10006	1001	35	4	2040	4	MTR	1	237023145	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	21348	237023145	12227476	1554	5170											
MTR	4548	broad.mit.edu	37	1	237025635	237025635	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:237025635G>T	ENST00000366577.5	+	21	2690	c.2296G>T	c.(2296-2298)Gaa>Taa	p.E766*	MTR_ENST00000535889.1_Nonsense_Mutation_p.E715*	NM_000254.2	NP_000245.2	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase	766					nervous system development|xenobiotic metabolic process	cytosol	cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	67	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)	CGGCACAGTAGAAGAAGAGGC	0.493													6	93					0.00116845	0.00124301	1	1	0	T	237025635	G	T	237025635	4	4	81	1	0	0	0	0	0	1	0	0	10006	943	33	4	2378	4	MTR	1	237025635	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2490	237025635	12224986	1555	5171											
MTR	4548	broad.mit.edu	37	1	237044082	237044082	+	Silent	SNP	G	G	A	rs141919148	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:237044082G>A	ENST00000366577.5	+	25	3016	c.2622G>A	c.(2620-2622)ccG>ccA	p.P874P	MTR_ENST00000535889.1_Silent_p.P823P	NM_000254.2	NP_000245.2	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase	874	B12-binding.				nervous system development|xenobiotic metabolic process	cytosol	cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	67	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)	AAATAGCTCCGAGATACAGTG	0.443													24	29					0	0	1	0	0	A	237044082	G	A	237044082	2	1	81	1	0	0	0	0	0	0	0	1	10006	1045	37	1		1	MTR	1	237044082	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	18447	237044082	12206539	1556	5172											
MTR	4548	broad.mit.edu	37	1	237057785	237057785	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:237057785C>T	ENST00000366577.5	+	30	3727	c.3333C>T	c.(3331-3333)agC>agT	p.S1111S	MTR_ENST00000470570.1_3'UTR|MTR_ENST00000535889.1_Silent_p.S1060S	NM_000254.2	NP_000245.2	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase	1111	AdoMet activation.				nervous system development|xenobiotic metabolic process	cytosol	cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	67	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)	AAGAGCTGAGCAAGGCCTATG	0.587													21	58					0	0	1	0	0	T	237057785	C	T	237057785	2	4	81	1	0	0	0	0	0	0	0	1	10006	709	25	2		2	MTR	1	237057785	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	13703	237057785	12192836	1557	5173											
RYR2	6262	broad.mit.edu	37	1	237619941	237619941	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:237619941C>T	ENST00000366574.2	+	16	1835	c.1518C>T	c.(1516-1518)caC>caT	p.H506H	RYR2_ENST00000542537.1_Silent_p.H490H|RYR2_ENST00000360064.6_Silent_p.H504H	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	506					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.H504Q(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			ACCGTTTGCACGTCTACAGCA	0.433													5	111					0	0	1	0	0	T	237619941	C	T	237619941	2	4	81	1	0	0	0	0	0	0	0	1	13821	535	19	1		1	RYR2	1	237619941	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	562156	237619941	11630680	1558	5174											
RYR2	6262	broad.mit.edu	37	1	237632393	237632393	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:237632393G>A	ENST00000366574.2	+	17	1931	c.1614G>A	c.(1612-1614)gcG>gcA	p.A538A	RYR2_ENST00000542537.1_Splice_Site_p.A522A|RYR2_ENST00000360064.6_Splice_Site_p.A536A	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	538					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CTTTTGCAGCGGCTCTAATTA	0.378													13	33					0	0	1	0	0	A	237632393	G	A	237632393	5	1	81	1	0	0	0	0	0	0	1	0	13821	1130	39	1	1680	1	RYR2	1	237632393	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	12452	237632393	11618228	1559	5175											
RYR2	6262	broad.mit.edu	37	1	237732539	237732539	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:237732539T>C	ENST00000366574.2	+	29	3835	c.3518T>C	c.(3517-3519)aTg>aCg	p.M1173T	RYR2_ENST00000542537.1_Missense_Mutation_p.M1157T|RYR2_ENST00000360064.6_Missense_Mutation_p.M1171T	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1173	4 X approximate repeats.|B30.2/SPRY 2.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GAACACACCATGATGTTCACA	0.483													8	26					0	0	1	0	0	C	237732539	T	C	237732539	3	2	81	1	0	0	0	0	1	0	0	0	13821	1464	51	3	3632	3	RYR2	1	237732539	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	100146	237732539	11518082	1560	5176											
RYR2	6262	broad.mit.edu	37	1	237777567	237777567	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:237777567C>A	ENST00000366574.2	+	37	5456	c.5139C>A	c.(5137-5139)tcC>tcA	p.S1713S	RYR2_ENST00000542537.1_Silent_p.S1697S|RYR2_ENST00000360064.6_Silent_p.S1711S	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1713	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			ACCTGAGCTCCTATGCCACTG	0.507													4	34					0.150653	0.152522	1	1	0	A	237777567	C	A	237777567	2	1	81	1	0	0	0	0	0	0	0	1	13821	668	24	4		4	RYR2	1	237777567	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	45028	237777567	11473054	1561	5177											
RYR2	6262	broad.mit.edu	37	1	237872343	237872343	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:237872343G>A	ENST00000366574.2	+	69	10404	c.10087G>A	c.(10087-10089)Gcc>Acc	p.A3363T	RYR2_ENST00000542537.1_Missense_Mutation_p.A3347T|RYR2_ENST00000360064.6_Missense_Mutation_p.A3361T|RYR2_ENST00000609119.1_3'UTR	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3363					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CACCACACTGGCCAGAGATCT	0.473													14	19					0	0	1	0	0	A	237872343	G	A	237872343	3	1	81	1	0	0	0	0	1	0	0	0	13821	1203	42	2	10361	2	RYR2	1	237872343	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	94776	237872343	11378278	1562	5178											
RYR2	6262	broad.mit.edu	37	1	237942006	237942006	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:237942006G>A	ENST00000366574.2	+	88	12133	c.11816G>A	c.(11815-11817)aGg>aAg	p.R3939K	RYR2_ENST00000542537.1_Missense_Mutation_p.R3923K|RYR2_ENST00000360064.6_Missense_Mutation_p.R3945K|RYR2_ENST00000609119.1_3'UTR	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3939					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GCACACAGCAGGCTGTGGGAT	0.448													29	40					0	0	1	0	0	A	237942006	G	A	237942006	3	1	81	1	0	0	0	0	1	0	0	0	13821	1000	35	2	12166	2	RYR2	1	237942006	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	69663	237942006	11308615	1563	5179											
RYR2	6262	broad.mit.edu	37	1	237955587	237955587	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:237955587T>G	ENST00000366574.2	+	94	14063	c.13746T>G	c.(13744-13746)atT>atG	p.I4582M	RYR2_ENST00000542537.1_Missense_Mutation_p.I4566M|RYR2_ENST00000360064.6_Missense_Mutation_p.I4588M	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4582					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			ACACGGTCATTTCTTTCTTCT	0.478													4	51					0	0	1	0	0	G	237955587	T	G	237955587	3	3	81	1	0	0	0	0	1	0	0	0	13821	1829	64	5	14120	5	RYR2	1	237955587	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	13581	237955587	11295034	1564	5180											
ZP4	57829	broad.mit.edu	37	1	238050822	238050822	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:238050822G>T	ENST00000366570.4	-	5	751	c.593C>A	c.(592-594)gCt>gAt	p.A198D	RP11-193H5.1_ENST00000450451.1_RNA	NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4	198	ZP.				acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity			breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			CCGAGACACAGCAATAGAGAA	0.537													9	34					1.76689e-08	2.10148e-08	1	1	0	T	238050822	G	T	238050822	3	4	81	1	0	0	0	0	1	0	0	0	18260	971	34	4	1061	4	ZP4	1	238050822	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	95235	238050822	11199799	1565	5181											
FMN2	56776	broad.mit.edu	37	1	240370352	240370352	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:240370352C>A	ENST00000319653.9	+	5	2470	c.2240C>A	c.(2239-2241)tCc>tAc	p.S747Y		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	747					actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			ATACAGACTTCCCCCACGGAA	0.572													6	21					0.00116845	0.00124301	1	1	0	A	240370352	C	A	240370352	3	1	81	1	0	0	0	0	1	0	0	0	5983	855	30	5	2258	5	FMN2	1	240370352	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2319530	240370352	8880269	1566	5182											
RGS7	6000	broad.mit.edu	37	1	240966253	240966253	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:240966253C>T	ENST00000366565.1	-	16	1691	c.1310G>A	c.(1309-1311)cGt>cAt	p.R437H	RGS7_ENST00000331110.7_Missense_Mutation_p.R411H|RGS7_ENST00000446183.2_Missense_Mutation_p.R353H|RGS7_ENST00000366563.1_Missense_Mutation_p.R437H|RGS7_ENST00000366564.1_Missense_Mutation_p.R437H|RGS7_ENST00000348120.2_Missense_Mutation_p.R384H|RGS7_ENST00000407727.1_Missense_Mutation_p.R437H|RGS7_ENST00000366562.4_Missense_Mutation_p.R437H|RGS7_ENST00000401882.1_Missense_Mutation_p.R384H	NM_002924.4	NP_002915.3	P49802	RGS7_HUMAN	regulator of G-protein signaling 7	437	RGS.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|protein binding|signal transducer activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			TCTTATAAAACGTGGGTATGA	0.343													50	80					0	0	1	0	0	T	240966253	C	T	240966253	3	4	81	1	0	0	0	0	1	0	0	0	13360	536	19	1	165	1	RGS7	1	240966253	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	595901	240966253	8284368	1567	5183											
RGS7	6000	broad.mit.edu	37	1	240979635	240979635	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:240979635T>A	ENST00000366565.1	-	11	1146	c.765A>T	c.(763-765)gaA>gaT	p.E255D	RGS7_ENST00000331110.7_Missense_Mutation_p.E229D|RGS7_ENST00000446183.2_Missense_Mutation_p.E171D|RGS7_ENST00000366563.1_Missense_Mutation_p.E255D|RGS7_ENST00000366564.1_Missense_Mutation_p.E255D|RGS7_ENST00000348120.2_Missense_Mutation_p.E202D|RGS7_ENST00000407727.1_Missense_Mutation_p.E255D|RGS7_ENST00000366562.4_Missense_Mutation_p.E255D|RGS7_ENST00000401882.1_Missense_Mutation_p.E202D	NM_002924.4	NP_002915.3	P49802	RGS7_HUMAN	regulator of G-protein signaling 7	255	G protein gamma.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|protein binding|signal transducer activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			GTAACTCATCTTCTGTTGGAG	0.363													64	109					0	0	1	0	0	A	240979635	T	A	240979635	3	1	81	1	0	0	0	0	1	0	0	0	13360	1606	56	5	730	5	RGS7	1	240979635	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	13382	240979635	8270986	1568	5184											
RGS7	6000	broad.mit.edu	37	1	241262035	241262035	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:241262035C>A	ENST00000366565.1	-	3	487	c.106G>T	c.(106-108)Gat>Tat	p.D36Y	RGS7_ENST00000331110.7_Missense_Mutation_p.D10Y|RGS7_ENST00000446183.2_5'UTR|RGS7_ENST00000366563.1_Missense_Mutation_p.D36Y|RGS7_ENST00000366564.1_Missense_Mutation_p.D36Y|RGS7_ENST00000348120.2_Missense_Mutation_p.D36Y|RGS7_ENST00000407727.1_Missense_Mutation_p.D36Y|RGS7_ENST00000366562.4_Missense_Mutation_p.D36Y|RGS7_ENST00000401882.1_Missense_Mutation_p.D36Y	NM_002924.4	NP_002915.3	P49802	RGS7_HUMAN	regulator of G-protein signaling 7	36					G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|protein binding|signal transducer activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			TTTTTTTCATCTTGCATCCGT	0.343													11	57					0.00136819	0.00145431	1	1	0	A	241262035	C	A	241262035	3	1	81	1	0	0	0	0	1	0	0	0	13360	913	32	4	1421	4	RGS7	1	241262035	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	282400	241262035	7988586	1569	5185											
FH	2271	broad.mit.edu	37	1	241667422	241667422	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:241667422C>T	ENST00000366560.3	-	7	1066	c.1028G>A	c.(1027-1029)cGa>cAa	p.R343Q		NM_000143.3	NP_000134.2	P07954	FUMH_HUMAN	fumarate hydratase	343					fumarate metabolic process|tricarboxylic acid cycle	cell junction|mitochondrial matrix|tricarboxylic acid cycle enzyme complex	fumarate hydratase activity			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(2)	26	Ovarian(103;0.103)	all_cancers(173;2.37e-314)|all_epithelial(177;5.17e-286)|Breast(1374;1.06e-10)|Acute lymphoblastic leukemia(190;4.93e-10)|all_neural(198;0.00118)	OV - Ovarian serous cystadenocarcinoma(106;0.0214)	Colorectal(1306;2.33e-53)|COAD - Colon adenocarcinoma(196;1.05e-44)|KIRC - Kidney renal clear cell carcinoma(1967;0.000109)		ACCCAAAAATCGAATATCATT	0.448			"Mis, N, F"			"lieomyomatosis, renal"			Hereditary Leiomyomatosis and Renal Cell Cancer				15	28					0	0	1	0	0	T	241667422	C	T	241667422	3	4	81	1	0	0	0	0	1	0	0	0	5908	884	31	1	520	1	FH	1	241667422	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	405387	241667422	7583199	1570	5186											
KMO	8564	broad.mit.edu	37	1	241718931	241718931	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:241718931G>T	ENST00000366559.4	+	5	643	c.332G>T	c.(331-333)aGa>aTa	p.R111I	KMO_ENST00000366558.3_Missense_Mutation_p.R111I|KMO_ENST00000484628.1_3'UTR|KMO_ENST00000366557.4_Missense_Mutation_p.R111I	NM_003679.4	NP_003670.2	O15229	KMO_HUMAN	kynurenine 3-monooxygenase (kynurenine 3-hydroxylase)	111					pyridine nucleotide biosynthetic process|response to salt stress	cytosol|integral to membrane|mitochondrial outer membrane	electron carrier activity|flavin adenine dinucleotide binding|kynurenine 3-monooxygenase activity|NAD(P)H oxidase activity			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)	33	Ovarian(103;0.103)|all_lung(81;0.23)		OV - Ovarian serous cystadenocarcinoma(106;0.0176)			TCTGTAAGCAGAGAAAATCTA	0.308													6	39					8.12818e-05	8.94031e-05	1	1	0	T	241718931	G	T	241718931	3	4	81	1	0	0	0	0	1	0	0	0	8467	942	33	4	350	4	KMO	1	241718931	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	51509	241718931	7531690	1571	5187											
KMO	8564	broad.mit.edu	37	1	241725562	241725562	+	Missense_Mutation	SNP	G	G	A	rs147782357		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:241725562G>A	ENST00000366559.4	+	7	856	c.545G>A	c.(544-546)cGc>cAc	p.R182H	KMO_ENST00000366558.3_Missense_Mutation_p.R182H|KMO_ENST00000484628.1_3'UTR|KMO_ENST00000366557.4_Missense_Mutation_p.R182H	NM_003679.4	NP_003670.2	O15229	KMO_HUMAN	kynurenine 3-monooxygenase (kynurenine 3-hydroxylase)	182					pyridine nucleotide biosynthetic process|response to salt stress	cytosol|integral to membrane|mitochondrial outer membrane	electron carrier activity|flavin adenine dinucleotide binding|kynurenine 3-monooxygenase activity|NAD(P)H oxidase activity			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)	33	Ovarian(103;0.103)|all_lung(81;0.23)		OV - Ovarian serous cystadenocarcinoma(106;0.0176)			AAGAAACCTCGCTTTGATTAC	0.443													48	65					0	0	1	0	0	A	241725562	G	A	241725562	3	1	81	1	0	0	0	0	1	0	0	0	8467	1087	38	1	571	1	KMO	1	241725562	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	6631	241725562	7525059	1572	5188											
CHML	1122	broad.mit.edu	37	1	241797251	241797251	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:241797251G>T	ENST00000366553.1	-	1	1981	c.1818C>A	c.(1816-1818)ttC>ttA	p.F606L	OPN3_ENST00000469376.1_Intron|OPN3_ENST00000366554.2_Intron|OPN3_ENST00000331838.5_Intron	NM_001821.3	NP_001812.2	P26374	RAE2_HUMAN	choroideremia-like (Rab escort protein 2)	606					intracellular protein transport|visual perception	Rab-protein geranylgeranyltransferase complex	GTPase activator activity|Rab geranylgeranyltransferase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(4)|skin(3)|stomach(1)	26	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	OV - Ovarian serous cystadenocarcinoma(106;0.0125)			GTGGAGGGCAGAATTCTTCAG	0.453													20	104					1.50039e-11	1.86073e-11	1	1	0	T	241797251	G	T	241797251	3	4	81	1	0	0	0	0	1	0	0	0	3373	933	33	4	156	4	CHML	1	241797251	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	71689	241797251	7453370	1573	5189											
CHML	1122	broad.mit.edu	37	1	241798768	241798768	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:241798768C>T	ENST00000366553.1	-	1	464	c.301G>A	c.(301-303)Gct>Act	p.A101T	OPN3_ENST00000469376.1_Intron|OPN3_ENST00000366554.2_Intron|OPN3_ENST00000331838.5_Intron	NM_001821.3	NP_001812.2	P26374	RAE2_HUMAN	choroideremia-like (Rab escort protein 2)	101					intracellular protein transport|visual perception	Rab-protein geranylgeranyltransferase complex	GTPase activator activity|Rab geranylgeranyltransferase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(4)|skin(3)|stomach(1)	26	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	OV - Ovarian serous cystadenocarcinoma(106;0.0125)			TAGCAAAAAGCTTCTGTGTGT	0.443													44	286					0	0	1	0	0	T	241798768	C	T	241798768	3	4	81	1	0	0	0	0	1	0	0	0	3373	797	28	2	1673	2	CHML	1	241798768	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1517	241798768	7451853	1574	5190											
WDR64	128025	broad.mit.edu	37	1	241904950	241904950	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:241904950C>A	ENST00000366552.2	+	11	1631	c.1424C>A	c.(1423-1425)tCt>tAt	p.S475Y	WDR64_ENST00000437684.2_Missense_Mutation_p.S475Y	NM_144625.4	NP_653226.4	B1ANS9	WDR64_HUMAN	WD repeat domain 64	475										breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(17)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	Ovarian(103;0.103)	all_cancers(173;0.0121)	OV - Ovarian serous cystadenocarcinoma(106;0.0116)			ACTATCTGCTCTGAATCCATA	0.318													10	26					2.17888e-05	2.43576e-05	1	1	0	A	241904950	C	A	241904950	3	1	81	1	0	0	0	0	1	0	0	0	17375	913	32	4	1466	4	WDR64	1	241904950	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	106182	241904950	7345671	1575	5191											
EXO1	9156	broad.mit.edu	37	1	242024777	242024777	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:242024777C>T	ENST00000366548.3	+	10	1607	c.1014C>T	c.(1012-1014)atC>atT	p.I338I	EXO1_ENST00000518483.1_Silent_p.I338I|EXO1_ENST00000348581.5_Silent_p.I338I	NM_130398.3	NP_569082.2	Q9UQ84	EXO1_HUMAN	exonuclease 1	338	Interaction with MSH3.				meiosis|mismatch repair	nucleus	double-stranded DNA specific 5'-3' exodeoxyribonuclease activity|flap endonuclease activity|metal ion binding|protein binding|ribonuclease H activity|single-stranded DNA specific 5'-3' exodeoxyribonuclease activity			NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(3)|lung(29)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	45	Ovarian(103;0.103)	all_cancers(173;0.0555)	OV - Ovarian serous cystadenocarcinoma(106;0.0107)			TTGAACAGATCGATGACTACA	0.343								Editing and processing nucleases					6	63					0	0	1	0	0	T	242024777	C	T	242024777	2	4	81	1	0	0	0	0	0	0	0	1	5327	874	31	1		1	EXO1	1	242024777	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	119827	242024777	7225844	1576	5192											
CEP170	9859	broad.mit.edu	37	1	243303270	243303270	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:243303270A>C	ENST00000366542.1	-	16	4250	c.4199T>G	c.(4198-4200)aTt>aGt	p.I1400S	CEP170_ENST00000490813.1_Missense_Mutation_p.I109S|CEP170_ENST00000481987.1_Missense_Mutation_p.I136S|RP11-261C10.5_ENST00000439562.1_RNA|CEP170_ENST00000366543.1_Missense_Mutation_p.I1276S|CEP170_ENST00000468254.1_5'UTR|CEP170_ENST00000366544.1_Missense_Mutation_p.I1302S	NM_014812.2	NP_055627.2	Q5SW79	CE170_HUMAN	centrosomal protein 170kDa	1400	Targeting to centrosomes.|Targeting to microtubules.					centriole|microtubule|spindle				NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	62	all_neural(11;0.101)	all_cancers(173;0.003)	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)			CCGCCTTGTAATTGTTAAGTG	0.428													5	37					0	0	1	0	0	C	243303270	A	C	243303270	3	2	81	1	0	0	0	0	1	0	0	0	3272	101	4	4	575	4	CEP170	1	243303270	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	1278493	243303270	5947351	1577	5193											
CEP170	9859	broad.mit.edu	37	1	243327874	243327874	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:243327874T>C	ENST00000366542.1	-	13	3439	c.3388A>G	c.(3388-3390)Aca>Gca	p.T1130A	CEP170_ENST00000366543.1_Missense_Mutation_p.T1032A|CEP170_ENST00000366544.1_Missense_Mutation_p.T1032A	NM_014812.2	NP_055627.2	Q5SW79	CE170_HUMAN	centrosomal protein 170kDa	1130	Targeting to centrosomes.|Targeting to microtubules.					centriole|microtubule|spindle				NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	62	all_neural(11;0.101)	all_cancers(173;0.003)	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)			GAACTTGTTGTGGATACTTCA	0.488													4	27					0	0	1	0	0	C	243327874	T	C	243327874	3	2	81	1	0	0	0	0	1	0	0	0	3272	1696	59	3	1428	3	CEP170	1	243327874	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	24604	243327874	5922747	1578	5194											
CEP170	9859	broad.mit.edu	37	1	243327909	243327909	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:243327909T>G	ENST00000366542.1	-	13	3404	c.3353A>C	c.(3352-3354)gAt>gCt	p.D1118A	CEP170_ENST00000366543.1_Missense_Mutation_p.D1020A|CEP170_ENST00000366544.1_Missense_Mutation_p.D1020A	NM_014812.2	NP_055627.2	Q5SW79	CE170_HUMAN	centrosomal protein 170kDa	1118	Targeting to centrosomes.|Targeting to microtubules.					centriole|microtubule|spindle				NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	62	all_neural(11;0.101)	all_cancers(173;0.003)	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)			TTTGTCAGCATCAGCAAGTTC	0.473													7	44					0	0	1	0	0	G	243327909	T	G	243327909	3	3	81	1	0	0	0	0	1	0	0	0	3272	1435	50	4	1463	4	CEP170	1	243327909	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	35	243327909	5922712	1579	5195											
SDCCAG8	10806	broad.mit.edu	37	1	243504455	243504455	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:243504455C>T	ENST00000366541.3	+	11	1454	c.1336C>T	c.(1336-1338)Cgg>Tgg	p.R446W	SDCCAG8_ENST00000355875.4_Missense_Mutation_p.R403W|SDCCAG8_ENST00000343783.6_Missense_Mutation_p.R301W	NM_006642.3	NP_006633.1	Q86SQ7	SDCG8_HUMAN	serologically defined colon cancer antigen 8	446	Sufficient for homodimerization (By similarity).				establishment of cell polarity|G2/M transition of mitotic cell cycle|tube formation	cell-cell junction|centriole|cytosol	protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_cancers(71;0.000545)|all_epithelial(71;0.000509)|all_lung(81;0.0821)|Ovarian(71;0.0919)|all_neural(11;0.101)|Breast(184;0.218)	all_cancers(173;0.00395)	all cancers(7;1.58e-07)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00392)	COAD - Colon adenocarcinoma(196;0.145)		GCTGGCTTCTCGGGAAATGGA	0.373													21	63					0	0	1	0	0	T	243504455	C	T	243504455	3	4	81	1	0	0	0	0	1	0	0	0	14013	875	31	1	1378	1	SDCCAG8	1	243504455	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	176546	243504455	5746166	1580	5196											
C1orf101	257044	broad.mit.edu	37	1	244756882	244756882	+	Splice_Site	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:244756882T>C	ENST00000366534.4	+	17	2357		c.e17+2		C1orf101_ENST00000366533.4_Splice_Site|C1orf101_ENST00000366531.3_Splice_Site|C1orf101_ENST00000473875.1_Splice_Site	NM_001130957.1	NP_001124429.1	Q5SY80	CA101_HUMAN	chromosome 1 open reading frame 101							integral to membrane				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	36	all_cancers(71;2.99e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)		all cancers(7;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.001)|GBM - Glioblastoma multiforme(7;0.0154)			GGTTCAACTGTAAGTATATTC	0.348													33	30					0	0	1	0	0	C	244756882	T	C	244756882	5	2	81	1	0	0	0	0	0	0	1	0	1989	1652	57	3	2371	3	C1orf101	1	244756882	Splice_Site	SNP	T	TCGA-DU-6392-01A-11D-1705-08	1252427	244756882	4493739	1581	5197											
HNRNPU	3192	broad.mit.edu	37	1	245018277	245018277	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:245018277C>A	ENST00000444376.2	-	13	2599	c.2365G>T	c.(2365-2367)Ggt>Tgt	p.G789C	HNRNPU_ENST00000283179.9_Missense_Mutation_p.G808C|HNRNPU-AS1_ENST00000475997.1_RNA	NM_004501.3|NM_031844.2	NP_004492.2|NP_114032.2	Q00839	HNRPU_HUMAN	heterogeneous nuclear ribonucleoprotein U (scaffold attachment factor A)	808	Gly-rich.				CRD-mediated mRNA stabilization	catalytic step 2 spliceosome|cell surface|CRD-mediated mRNA stability complex|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	ATP binding|DNA binding|protein binding|RNA binding			NS(1)|endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	all_cancers(71;6.97e-06)|all_epithelial(71;0.000104)|all_neural(11;0.0269)|Breast(184;0.0545)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0989)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.00868)			TTACTTACACCCTGCTGCCAC	0.368													6	65					0.0215528	0.0221217	1	1	0	A	245018277	C	A	245018277	3	1	81	1	0	0	0	0	1	0	0	0	7314	623	22	5	63	5	HNRNPU	1	245018277	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	261395	245018277	4232344	1582	5198											
HNRNPU	3192	broad.mit.edu	37	1	245027151	245027151	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:245027151G>A	ENST00000444376.2	-	1	693	c.459C>T	c.(457-459)ggC>ggT	p.G153G	HNRNPU_ENST00000283179.9_Silent_p.G153G	NM_004501.3|NM_031844.2	NP_004492.2|NP_114032.2	Q00839	HNRPU_HUMAN	heterogeneous nuclear ribonucleoprotein U (scaffold attachment factor A)	153	Asp/Glu-rich (acidic).				CRD-mediated mRNA stabilization	catalytic step 2 spliceosome|cell surface|CRD-mediated mRNA stability complex|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	ATP binding|DNA binding|protein binding|RNA binding	p.G153G(2)		NS(1)|endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	all_cancers(71;6.97e-06)|all_epithelial(71;0.000104)|all_neural(11;0.0269)|Breast(184;0.0545)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0989)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.00868)			CGTTCTCGTCGCCCGCGCCTT	0.692													3	15					0	0	1	0	0	A	245027151	G	A	245027151	2	1	81	1	0	0	0	0	0	0	0	1	7314	1074	38	1		1	HNRNPU	1	245027151	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	8874	245027151	4223470	1583	5199											
KIF26B	55083	broad.mit.edu	37	1	245847663	245847663	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:245847663C>T	ENST00000366518.4	+	8	1348	c.1244C>T	c.(1243-1245)tCg>tTg	p.S415L	KIF26B_ENST00000407071.2_Missense_Mutation_p.S796L			Q2KJY2	KI26B_HUMAN	kinesin family member 26B	796					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			CAGATTGCATCGAGAGTCTTG	0.597													7	19					0	0	1	0	0	T	245847663	C	T	245847663	3	4	81	1	0	0	0	0	1	0	0	0	8337	893	31	1	2429	1	KIF26B	1	245847663	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	820512	245847663	3402958	1584	5200											
TFB2M	64216	broad.mit.edu	37	1	246729428	246729428	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:246729428C>A	ENST00000366514.4	-	1	198	c.13G>T	c.(13-15)Gtg>Ttg	p.V5L	TFB2M_ENST00000544618.1_Missense_Mutation_p.V5L	NM_022366.2	NP_071761.1	Q9H5Q4	TFB2M_HUMAN	transcription factor B2, mitochondrial	5					positive regulation of transcription, DNA-dependent|transcription initiation from mitochondrial promoter	mitochondrial nucleoid	protein binding|rRNA (adenine-N6,N6-)-dimethyltransferase activity|transcription cofactor activity			breast(1)|endometrium(1)|kidney(12)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28	all_cancers(71;4.25e-05)|all_epithelial(71;4.92e-06)|Ovarian(71;0.0254)|all_lung(81;0.0272)|Breast(184;0.0318)|Lung NSC(105;0.0376)		OV - Ovarian serous cystadenocarcinoma(106;0.00358)			AGCCCGACCACTGGGATCCAC	0.597													16	18					3.52763e-06	4.02143e-06	1	1	0	A	246729428	C	A	246729428	3	1	81	1	0	0	0	0	1	0	0	0	15854	565	20	4	1209	4	TFB2M	1	246729428	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	881765	246729428	2521193	1585	5201											
CNST	163882	broad.mit.edu	37	1	246805289	246805289	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:246805289T>C	ENST00000366513.4	+	8	1156	c.887T>C	c.(886-888)tTa>tCa	p.L296S	CNST_ENST00000483271.1_3'UTR|CNST_ENST00000366512.3_Missense_Mutation_p.L296S	NM_152609.2	NP_689822.2	Q6PJW8	CNST_HUMAN	consortin, connexin sorting protein	296					positive regulation of Golgi to plasma membrane protein transport	integral to membrane|plasma membrane|protein complex|trans-Golgi network|transport vesicle	connexin binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|urinary_tract(2)	28						TCCACGCAGTTACTAGTGTCT	0.408													6	18					0	0	1	0	0	C	246805289	T	C	246805289	3	2	81	1	0	0	0	0	1	0	0	0	3657	1764	61	3	913	3	CNST	1	246805289	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	75861	246805289	2445332	1586	5202											
CNST	163882	broad.mit.edu	37	1	246829045	246829045	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:246829045C>T	ENST00000366513.4	+	11	2285	c.2016C>T	c.(2014-2016)tgC>tgT	p.C672C		NM_152609.2	NP_689822.2	Q6PJW8	CNST_HUMAN	consortin, connexin sorting protein	672					positive regulation of Golgi to plasma membrane protein transport	integral to membrane|plasma membrane|protein complex|trans-Golgi network|transport vesicle	connexin binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|urinary_tract(2)	28						TCTTGCTGTGCATAGCAACGG	0.448													34	62					0	0	1	0	0	T	246829045	C	T	246829045	2	4	81	1	0	0	0	0	0	0	0	1	3657	718	25	2		2	CNST	1	246829045	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	23756	246829045	2421576	1587	5203											
SCCPDH	51097	broad.mit.edu	37	1	246923291	246923291	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:246923291C>T	ENST00000366510.3	+	8	1222	c.846C>T	c.(844-846)ggC>ggT	p.G282G		NM_016002.2	NP_057086.2	Q8NBX0	SCPDH_HUMAN	saccharopine dehydrogenase (putative)	282						midbody	binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(9)|ovary(1)	17	all_cancers(71;6.8e-05)|all_epithelial(71;7.93e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0545)|Lung NSC(105;0.0618)	all_cancers(173;0.0343)	OV - Ovarian serous cystadenocarcinoma(106;0.00323)	GBM - Glioblastoma multiforme(49;0.0896)		CTGTGGGAGGCATCACCTCTG	0.373													71	78					0	0	1	0	0	T	246923291	C	T	246923291	2	4	81	1	0	0	0	0	0	0	0	1	13938	697	25	2		2	SCCPDH	1	246923291	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	94246	246923291	2327330	1588	5204											
AHCTF1	25909	broad.mit.edu	37	1	247013360	247013360	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:247013360G>T	ENST00000366508.1	-	33	6189	c.6053C>A	c.(6052-6054)tCt>tAt	p.S2018Y	AHCTF1_ENST00000470300.1_5'UTR|AHCTF1_ENST00000326225.3_Missense_Mutation_p.S1992Y|AHCTF1_ENST00000391829.2_Missense_Mutation_p.S1983Y			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	1983	Necessary for nuclear localization (By similarity).				cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport	condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm	DNA binding			NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			TACATCTTCAGATGGATTGAT	0.418													63	66					1.40369e-38	1.88364e-38	1	1	0	T	247013360	G	T	247013360	3	4	81	1	0	0	0	0	1	0	0	0	405	942	33	4	868	4	AHCTF1	1	247013360	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	90069	247013360	2237261	1589	5205											
AHCTF1	25909	broad.mit.edu	37	1	247030630	247030630	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:247030630G>T	ENST00000366508.1	-	26	3504	c.3368C>A	c.(3367-3369)cCt>cAt	p.P1123H	AHCTF1_ENST00000470300.1_5'UTR|AHCTF1_ENST00000326225.3_Missense_Mutation_p.P1097H|AHCTF1_ENST00000391829.2_Missense_Mutation_p.P1088H			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	1088					cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport	condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm	DNA binding			NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			ATACACTATAGGAGATGGTTC	0.363													7	18					0.0293803	0.0300537	1	1	0	T	247030630	G	T	247030630	3	4	81	1	0	0	0	0	1	0	0	0	405	1000	35	4	3581	4	AHCTF1	1	247030630	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	17270	247030630	2219991	1590	5206											
AHCTF1	25909	broad.mit.edu	37	1	247053278	247053278	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:247053278G>A	ENST00000366508.1	-	17	2375	c.2239C>T	c.(2239-2241)Cgt>Tgt	p.R747C	AHCTF1_ENST00000470300.1_5'UTR|AHCTF1_ENST00000326225.3_Missense_Mutation_p.R721C|AHCTF1_ENST00000391829.2_Missense_Mutation_p.R712C			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	712	Necessary for cytoplasmic localization (By similarity).				cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport	condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm	DNA binding			NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			CTTGATAAACGCTCAAACTTC	0.338													67	86					0	0	1	0	0	A	247053278	G	A	247053278	3	1	81	1	0	0	0	0	1	0	0	0	405	1087	38	1	4746	1	AHCTF1	1	247053278	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	22648	247053278	2197343	1591	5207											
ZNF695	57116	broad.mit.edu	37	1	247151450	247151450	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:247151450G>A	ENST00000339986.7	-	4	514	c.367C>T	c.(367-369)Cgc>Tgc	p.R123C	ZNF695_ENST00000498046.2_5'UTR|ZNF695_ENST00000487338.2_Missense_Mutation_p.R123C	NM_020394.4	NP_065127	Q8IW36	ZN695_HUMAN	zinc finger protein 695	123					regulation of transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			endometrium(1)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1)	13	all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			TTCCTTAAGCGTAATTTCTCA	0.403													25	221					0	0	1	0	0	A	247151450	G	A	247151450	3	1	81	1	0	0	0	0	1	0	0	0	18154	1145	40	1	1184	1	ZNF695	1	247151450	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	98172	247151450	2099171	1592	5208											
ZNF695	57116	broad.mit.edu	37	1	247163244	247163244	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:247163244C>T	ENST00000339986.7	-	2	283	c.136G>A	c.(136-138)Gat>Aat	p.D46N	ZNF695_ENST00000498046.2_Intron|ZNF695_ENST00000487338.2_Missense_Mutation_p.D46N	NM_020394.4	NP_065127	Q8IW36	ZN695_HUMAN	zinc finger protein 695	46	KRAB.				regulation of transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			endometrium(1)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1)	13	all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			TTGAAGCTATCCTCACCAAGG	0.418													15	34					0	0	1	0	0	T	247163244	C	T	247163244	3	4	81	1	0	0	0	0	1	0	0	0	18154	855	30	2	1423	2	ZNF695	1	247163244	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	11794	247163244	2087377	1593	5209											
ZNF669	79862	broad.mit.edu	37	1	247263863	247263863	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:247263863C>T	ENST00000343381.6	-	4	1380	c.1208G>A	c.(1207-1209)aGt>aAt	p.S403N	ZNF669_ENST00000358785.4_3'UTR|ZNF669_ENST00000448299.2_Missense_Mutation_p.S317N	NM_024804.2	NP_079080.2	Q96BR6	ZN669_HUMAN	zinc finger protein 669	403					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|kidney(4)|large_intestine(2)|lung(6)	17	all_cancers(71;4.09e-05)|all_epithelial(71;6.72e-06)|Breast(184;0.0226)|Ovarian(71;0.0283)|all_lung(81;0.0488)|Lung NSC(105;0.053)		OV - Ovarian serous cystadenocarcinoma(106;0.00427)			GTGAAGGGAACTGAGGCGACT	0.438													55	104					0	0	1	0	0	T	247263863	C	T	247263863	3	4	81	1	0	0	0	0	1	0	0	0	18133	565	20	2	190	2	ZNF669	1	247263863	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	100619	247263863	1986758	1594	5210											
ZNF124	7678	broad.mit.edu	37	1	247320254	247320254	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:247320254G>A	ENST00000340684.6	-	4	622	c.484C>T	c.(484-486)Cat>Tat	p.H162Y	ZNF124_ENST00000491356.1_Intron|ZNF124_ENST00000491848.1_5'UTR|ZNF124_ENST00000472531.1_Intron|ZNF124_ENST00000543802.2_Missense_Mutation_p.H224Y	NM_003431.2	NP_003422.2	Q15973	ZN124_HUMAN	zinc finger protein 124	224					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			biliary_tract(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(3)|urinary_tract(2)	14	all_cancers(71;5.07e-05)|all_epithelial(71;8.72e-06)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0488)|Lung NSC(105;0.053)		OV - Ovarian serous cystadenocarcinoma(106;0.00739)			GTTCTTTCATGGTAATGAAGG	0.443													6	100					0	0	1	0	0	A	247320254	G	A	247320254	3	1	81	1	0	0	0	0	1	0	0	0	17778	1348	47	2	389	2	ZNF124	1	247320254	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	56391	247320254	1930367	1595	5211											
ZNF496	84838	broad.mit.edu	37	1	247463865	247463865	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:247463865G>T	ENST00000294753.4	-	9	2184	c.1720C>A	c.(1720-1722)Ctg>Atg	p.L574M	ZNF496_ENST00000366498.2_Missense_Mutation_p.L610M|ZNF496_ENST00000462139.1_5'UTR	NM_032752.1	NP_116141.1	Q96IT1	ZN496_HUMAN	zinc finger protein 496	574					positive regulation of transcription, DNA-dependent|viral reproduction		DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	36	all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)		OV - Ovarian serous cystadenocarcinoma(106;0.00703)			TTCATGTGCAGGCGCTCGTGG	0.637													23	35					4.26978e-12	5.32034e-12	1	1	0	T	247463865	G	T	247463865	3	4	81	1	0	0	0	0	1	0	0	0	18002	991	35	4	47	4	ZNF496	1	247463865	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	143611	247463865	1786756	1596	5212											
ZNF496	84838	broad.mit.edu	37	1	247492096	247492096	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:247492096G>T	ENST00000294753.4	-	4	927	c.463C>A	c.(463-465)Ccg>Acg	p.P155T	ZNF496_ENST00000366498.2_Missense_Mutation_p.P155T	NM_032752.1	NP_116141.1	Q96IT1	ZN496_HUMAN	zinc finger protein 496	155					positive regulation of transcription, DNA-dependent|viral reproduction		DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	36	all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)		OV - Ovarian serous cystadenocarcinoma(106;0.00703)			GGCTCTACCGGCAGCTGCTCC	0.602													11	167					7.03913e-09	8.42519e-09	1	1	0	T	247492096	G	T	247492096	3	4	81	1	0	0	0	0	1	0	0	0	18002	1203	42	5	1324	5	ZNF496	1	247492096	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	28231	247492096	1758525	1597	5213											
ZNF496	84838	broad.mit.edu	37	1	247492713	247492713	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:247492713G>A	ENST00000294753.4	-	3	632	c.168C>T	c.(166-168)ccC>ccT	p.P56P	ZNF496_ENST00000366498.2_Silent_p.P56P	NM_032752.1	NP_116141.1	Q96IT1	ZN496_HUMAN	zinc finger protein 496	56	SCAN box.				positive regulation of transcription, DNA-dependent|viral reproduction		DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	36	all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)		OV - Ovarian serous cystadenocarcinoma(106;0.00703)			GGGCCTCCCGGGGGCCCGCCG	0.706													4	30					0	0	1	0	0	A	247492713	G	A	247492713	2	1	81	1	0	0	0	0	0	0	0	1	18002	1219	43	2		2	ZNF496	1	247492713	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	617	247492713	1757908	1598	5214											
ZNF496	84838	broad.mit.edu	37	1	247492846	247492846	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:247492846G>A	ENST00000294753.4	-	3	499	c.35C>T	c.(34-36)cCg>cTg	p.P12L	ZNF496_ENST00000366498.2_Missense_Mutation_p.P12L	NM_032752.1	NP_116141.1	Q96IT1	ZN496_HUMAN	zinc finger protein 496	12					positive regulation of transcription, DNA-dependent|viral reproduction		DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	36	all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)		OV - Ovarian serous cystadenocarcinoma(106;0.00703)			ACTTTCCTTCGGAGCCAAGAC	0.592													43	76					0	0	1	0	0	A	247492846	G	A	247492846	3	1	81	1	0	0	0	0	1	0	0	0	18002	1116	39	1	1756	1	ZNF496	1	247492846	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	133	247492846	1757775	1599	5215											
OR2B11	127623	broad.mit.edu	37	1	247614479	247614479	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:247614479C>T	ENST00000318749.6	-	1	829	c.806G>A	c.(805-807)aGc>aAc	p.S269N		NM_001004492.1	NP_001004492.1	Q5JQS5	OR2BB_HUMAN	olfactory receptor, family 2, subfamily B, member 11	269					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			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)			TTGGGAGTAGCTGGAAGGGGG	0.483													8	152					0	0	1	0	0	T	247614479	C	T	247614479	3	4	81	1	0	0	0	0	1	0	0	0	11036	797	28	2	150	2	OR2B11	1	247614479	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	121633	247614479	1636142	1600	5216											
OR2C3	81472	broad.mit.edu	37	1	247695568	247695568	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:247695568G>A	ENST00000366487.3	-	2	607	c.246C>T	c.(244-246)ctC>ctT	p.L82L	GCSAML_ENST00000531662.1_Intron|GCSAML_ENST00000527084.1_Intron|GCSAML_ENST00000366490.3_Intron|GCSAML_ENST00000366489.1_Intron|GCSAML_ENST00000463359.1_Intron|GCSAML_ENST00000366491.2_Intron|GCSAML_ENST00000527541.1_Intron	NM_198074.4	NP_932340	Q8N628	OR2C3_HUMAN	olfactory receptor, family 2, subfamily C, member 3	82					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2)	43	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;0.0242)	OV - Ovarian serous cystadenocarcinoma(106;0.0241)			GGTTAGCCAGGAGCTGTGGGA	0.537													27	23					0	0	1	0	0	A	247695568	G	A	247695568	2	1	81	1	0	0	0	0	0	0	0	1	11041	1161	41	2		2	OR2C3	1	247695568	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	81089	247695568	1555053	1601	5217											
OR2G2	81470	broad.mit.edu	37	1	247751701	247751701	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:247751701G>T	ENST00000320065.1	+	1	40	c.40G>T	c.(40-42)Ggt>Tgt	p.G14C	RP11-978I15.10_ENST00000446347.1_RNA|RP11-978I15.10_ENST00000435333.1_RNA	NM_001001915.1	NP_001001915.1	Q8NGZ5	OR2G2_HUMAN	olfactory receptor, family 2, subfamily G, member 2	14					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_cancers(71;3.24e-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)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			CAACCTAGCAGGTTTCATCCT	0.403													52	60					3.10996e-30	4.14692e-30	1	1	0	T	247751701	G	T	247751701	3	4	81	1	0	0	0	0	1	0	0	0	11046	1000	35	4	42	4	OR2G2	1	247751701	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	56133	247751701	1498920	1602	5218											
OR2G2	81470	broad.mit.edu	37	1	247751882	247751882	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:247751882G>A	ENST00000320065.1	+	1	221	c.221G>A	c.(220-222)cGc>cAc	p.R74H	RP11-978I15.10_ENST00000446347.1_RNA|RP11-978I15.10_ENST00000435333.1_RNA	NM_001001915.1	NP_001001915.1	Q8NGZ5	OR2G2_HUMAN	olfactory receptor, family 2, subfamily G, member 2	74					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R74H(1)		endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_cancers(71;3.24e-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)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			TTCCTGTACCGCTGCTTCACC	0.473													48	105					0	0	1	0	0	A	247751882	G	A	247751882	3	1	81	1	0	0	0	0	1	0	0	0	11046	1087	38	1	223	1	OR2G2	1	247751882	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	181	247751882	1498739	1603	5219											
OR2G2	81470	broad.mit.edu	37	1	247752103	247752103	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:247752103G>A	ENST00000320065.1	+	1	442	c.442G>A	c.(442-444)Gca>Aca	p.A148T	RP11-978I15.10_ENST00000446347.1_RNA|RP11-978I15.10_ENST00000435333.1_RNA	NM_001001915.1	NP_001001915.1	Q8NGZ5	OR2G2_HUMAN	olfactory receptor, family 2, subfamily G, member 2	148					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_cancers(71;3.24e-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)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			CATGGCCTTGGCATCTATGGC	0.557													24	145					0	0	1	0	0	A	247752103	G	A	247752103	3	1	81	1	0	0	0	0	1	0	0	0	11046	1203	42	2	444	2	OR2G2	1	247752103	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	221	247752103	1498518	1604	5220											
OR13G1	441933	broad.mit.edu	37	1	247836050	247836050	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:247836050G>T	ENST00000359688.2	-	1	315	c.294C>A	c.(292-294)ctC>ctA	p.L98L	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005487.1	NP_001005487.1	Q8NGZ3	O13G1_HUMAN	olfactory receptor, family 13, subfamily G, member 1	98					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(28)|skin(2)	35	all_cancers(71;3.24e-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)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			TGAACAAGAAGAGCTGGGACA	0.468													16	19					2.32078e-09	2.80257e-09	1	1	0	T	247836050	G	T	247836050	2	4	81	1	0	0	0	0	0	0	0	1	10990	929	33	4		4	OR13G1	1	247836050	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	83947	247836050	1414571	1605	5221											
OR13G1	441933	broad.mit.edu	37	1	247836181	247836181	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:247836181G>A	ENST00000359688.2	-	1	184	c.163C>T	c.(163-165)Ccc>Tcc	p.P55S	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005487.1	NP_001005487.1	Q8NGZ3	O13G1_HUMAN	olfactory receptor, family 13, subfamily G, member 1	55					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(28)|skin(2)	35	all_cancers(71;3.24e-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)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			ACATACATGGGCGTATGCAAG	0.423													26	19					0	0	1	0	0	A	247836181	G	A	247836181	3	1	81	1	0	0	0	0	1	0	0	0	10990	1203	42	2	764	2	OR13G1	1	247836181	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	131	247836181	1414440	1606	5222											
OR6F1	343169	broad.mit.edu	37	1	247875949	247875949	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:247875949G>T	ENST00000302084.2	-	1	156	c.109C>A	c.(109-111)Ctc>Atc	p.L37I	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005286.1	NP_001005286.1	Q8NGZ6	OR6F1_HUMAN	olfactory receptor, family 6, subfamily F, member 1	37					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47	all_cancers(71;3.24e-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)		OV - Ovarian serous cystadenocarcinoma(106;0.0168)			CTAACTGTGAGGATGTACATC	0.468													59	93					3.53049e-34	4.72365e-34	1	1	0	T	247875949	G	T	247875949	3	4	81	1	0	0	0	0	1	0	0	0	11248	1000	35	4	821	4	OR6F1	1	247875949	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	39768	247875949	1374672	1607	5223											
OR14A16	284532	broad.mit.edu	37	1	247978154	247978154	+	Missense_Mutation	SNP	G	G	A	rs111974834		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:247978154G>A	ENST00000357627.1	-	1	877	c.878C>T	c.(877-879)gCc>gTc	p.A293V		NM_001001966.1	NP_001001966.1	Q8NHC5	O14AG_HUMAN	olfactory receptor, family 14, subfamily A, member 16	293					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(32)|skin(2)|stomach(1)	45						CACCTTTATGGCCTTGTTTCT	0.378													22	42					0	0	1	0	0	A	247978154	G	A	247978154	3	1	81	1	0	0	0	0	1	0	0	0	10993	1203	42	2	55	2	OR14A16	1	247978154	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	102205	247978154	1272467	1608	5224											
OR2W3	343171	broad.mit.edu	37	1	248059271	248059271	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:248059271A>T	ENST00000537741.1	+	3	640	c.383A>T	c.(382-384)aAg>aTg	p.K128M	OR2W3_ENST00000360358.3_Missense_Mutation_p.K128M			Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W, member 3	128					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GCTATCTGCAAGCCCCTGCAC	0.607													23	36					0	0	1	0	0	T	248059271	A	T	248059271	3	4	81	1	0	0	0	0	1	0	0	0	11081	72	3	5	385	5	OR2W3	1	248059271	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	81117	248059271	1191350	1609	5225											
OR2W3	343171	broad.mit.edu	37	1	248059544	248059544	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:248059544G>T	ENST00000537741.1	+	3	913	c.656G>T	c.(655-657)aGc>aTc	p.S219I	OR2W3_ENST00000360358.3_Missense_Mutation_p.S219I			Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W, member 3	219					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			CTCTCTTACAGCTACATTGTG	0.562													64	82					1.11378e-47	1.49905e-47	1	1	0	T	248059544	G	T	248059544	3	4	81	1	0	0	0	0	1	0	0	0	11081	971	34	4	658	4	OR2W3	1	248059544	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	273	248059544	1191077	1610	5226											
OR2L2	26246	broad.mit.edu	37	1	248202053	248202053	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:248202053G>A	ENST00000366479.2	+	1	580	c.484G>A	c.(484-486)Gca>Aca	p.A162T	OR2L13_ENST00000366478.2_Intron	NM_001004686.2	NP_001004686.1	Q8NH16	OR2L2_HUMAN	olfactory receptor, family 2, subfamily L, member 2	162					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1)	42	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			CACAGTATATGCACTCTGTAT	0.428													16	180					0	0	1	0	0	A	248202053	G	A	248202053	3	1	81	1	0	0	0	0	1	0	0	0	11055	1319	46	2	486	2	OR2L2	1	248202053	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	142509	248202053	1048568	1611	5227											
OR2M5	127059	broad.mit.edu	37	1	248308611	248308611	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:248308611G>T	ENST00000366476.1	+	1	162	c.162G>T	c.(160-162)caG>caT	p.Q54H		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	54					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			TGGACACCCAGCTCCACACCC	0.532													19	326					3.28513e-13	4.13666e-13	1	1	0	T	248308611	G	T	248308611	3	4	81	1	0	0	0	0	1	0	0	0	11061	962	34	4	164	4	OR2M5	1	248308611	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	106558	248308611	942010	1612	5228											
OR2M5	127059	broad.mit.edu	37	1	248308747	248308747	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:248308747C>T	ENST00000366476.1	+	1	298	c.298C>T	c.(298-300)Caa>Taa	p.Q100*		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	100					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			TTGTGCCACACAAATTTTCTT	0.463													17	314					0	0	1	0	0	T	248308747	C	T	248308747	4	4	81	1	0	0	0	0	0	1	0	0	11061	479	17	2	300	2	OR2M5	1	248308747	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	136	248308747	941874	1613	5229											
OR2M3	127062	broad.mit.edu	37	1	248366786	248366786	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:248366786A>C	ENST00000456743.1	+	1	455	c.417A>C	c.(415-417)aaA>aaC	p.K139N		NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M, member 3	139					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			TGAGCCCTAAAATTTGTGGAC	0.468													36	264					0	0	1	0	0	C	248366786	A	C	248366786	3	2	81	1	0	0	0	0	1	0	0	0	11059	11	1	5	419	5	OR2M3	1	248366786	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	58039	248366786	883835	1614	5230											
OR2M7	391196	broad.mit.edu	37	1	248487549	248487549	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:248487549G>A	ENST00000317965.2	-	1	350	c.322C>T	c.(322-324)Ctt>Ttt	p.L108F		NM_001004691.1	NP_001004691.1	Q8NG81	OR2M7_HUMAN	olfactory receptor, family 2, subfamily M, member 7	108					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(6)|large_intestine(3)|lung(29)|skin(3)	42	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TCGGAGCCAAGCAATGATATA	0.453													11	214					0	0	1	0	0	A	248487549	G	A	248487549	3	1	81	1	0	0	0	0	1	0	0	0	11062	971	34	2	619	2	OR2M7	1	248487549	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	120763	248487549	763072	1615	5231											
OR2G6	391211	broad.mit.edu	37	1	248685655	248685655	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:248685655G>T	ENST00000343414.4	+	1	740	c.708G>T	c.(706-708)aaG>aaT	p.K236N		NM_001013355.1	NP_001013373.1	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G, member 6	236					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.K236N(1)		NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GCCGCCAAAAGGCCTTTGGGA	0.458													14	83					6.31663e-08	7.44777e-08	1	1	0	T	248685655	G	T	248685655	3	4	81	1	0	0	0	0	1	0	0	0	11048	991	35	4	710	4	OR2G6	1	248685655	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	198106	248685655	564966	1616	5232											
OR2G6	391211	broad.mit.edu	37	1	248685842	248685842	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:248685842G>T	ENST00000343414.4	+	1	927	c.895G>T	c.(895-897)Ggg>Tgg	p.G299W		NM_001013355.1	NP_001013373.1	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G, member 6	299					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			AGATGTGAAAGGGGCCTTGAG	0.448													4	47					0.000602214	0.000646338	1	1	0	T	248685842	G	T	248685842	3	4	81	1	0	0	0	0	1	0	0	0	11048	1000	35	4	897	4	OR2G6	1	248685842	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	187	248685842	564779	1617	5233											
OR2T10	127069	broad.mit.edu	37	1	248756344	248756344	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:248756344G>T	ENST00000330500.2	-	1	756	c.726C>A	c.(724-726)tcC>tcA	p.S242S		NM_001004693.1	NP_001004693.1	Q8NGZ9	O2T10_HUMAN	olfactory receptor, family 2, subfamily T, member 10	242					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(17)|skin(3)|upper_aerodigestive_tract(1)	26	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TAATGTGGGAGGAGCAGGTGG	0.463													21	46					3.62473e-10	4.42231e-10	1	1	0	T	248756344	G	T	248756344	2	4	81	1	0	0	0	0	0	0	0	1	11065	987	35	4		4	OR2T10	1	248756344	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	70502	248756344	494277	1618	5234											
OR2T10	127069	broad.mit.edu	37	1	248756983	248756983	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:248756983C>T	ENST00000330500.2	-	1	117	c.87G>A	c.(85-87)ttG>ttA	p.L29L		NM_001004693.1	NP_001004693.1	Q8NGZ9	O2T10_HUMAN	olfactory receptor, family 2, subfamily T, member 10	29					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(17)|skin(3)|upper_aerodigestive_tract(1)	26	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TGAAGATAAGCAAGCAGAGGC	0.473													6	43					0	0	1	0	0	T	248756983	C	T	248756983	2	4	81	1	0	0	0	0	0	0	0	1	11065	709	25	2		2	OR2T10	1	248756983	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	639	248756983	493638	1619	5235											
OR2T11	127077	broad.mit.edu	37	1	248789612	248789612	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:248789612G>A	ENST00000330803.2	-	1	879	c.818C>T	c.(817-819)gCc>gTc	p.A273V		NM_001001964.1	NP_001001964.1	Q8NH01	O2T11_HUMAN	olfactory receptor, family 2, subfamily T, member 11 (gene/pseudogene)	273					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(5)|lung(20)|skin(2)	28	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GGTATAGAAGGCTGACACTAC	0.488													25	34					0	0	1	0	0	A	248789612	G	A	248789612	3	1	81	1	0	0	0	0	1	0	0	0	11066	1203	42	2	136	2	OR2T11	1	248789612	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	32629	248789612	461009	1620	5236											
OR2T11	127077	broad.mit.edu	37	1	248789891	248789891	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:248789891G>A	ENST00000330803.2	-	1	600	c.539C>T	c.(538-540)gCa>gTa	p.A180V		NM_001001964.1	NP_001001964.1	Q8NH01	O2T11_HUMAN	olfactory receptor, family 2, subfamily T, member 11 (gene/pseudogene)	180					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(5)|lung(20)|skin(2)	28	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TTTCAGAACTGCTGGGATCTC	0.493													11	67					0	0	1	0	0	A	248789891	G	A	248789891	3	1	81	1	0	0	0	0	1	0	0	0	11066	1319	46	2	415	2	OR2T11	1	248789891	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	279	248789891	460730	1621	5237											
OR2T11	127077	broad.mit.edu	37	1	248789941	248789941	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:248789941G>A	ENST00000330803.2	-	1	550	c.489C>T	c.(487-489)gtC>gtT	p.V163V		NM_001001964.1	NP_001001964.1	Q8NH01	O2T11_HUMAN	olfactory receptor, family 2, subfamily T, member 11 (gene/pseudogene)	163					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(5)|lung(20)|skin(2)	28	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CACAGTAAGGGACATTCATGG	0.512													6	74					0	0	1	0	0	A	248789941	G	A	248789941	2	1	81	1	0	0	0	0	0	0	0	1	11066	1161	41	2		2	OR2T11	1	248789941	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	50	248789941	460680	1622	5238											
OR14I1	401994	broad.mit.edu	37	1	248845564	248845564	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:248845564C>T	ENST00000342623.3	-	1	65	c.42G>A	c.(40-42)gaG>gaA	p.E14E		NM_001004734.1	NP_001004734.1	A6ND48	O14I1_HUMAN	olfactory receptor, family 14, subfamily I, member 1	14					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(4)|large_intestine(2)|lung(24)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	35						TACCAGAAAACTCCATCAGCA	0.448													17	16					0	0	1	0	0	T	248845564	C	T	248845564	2	4	81	1	0	0	0	0	0	0	0	1	10995	564	20	2		2	OR14I1	1	248845564	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	55623	248845564	405057	1623	5239											
ZNF692	55657	broad.mit.edu	37	1	249151477	249151477	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:249151477C>T	ENST00000451251.1	-	4	791	c.446G>A	c.(445-447)cGg>cAg	p.R149Q	ZNF692_ENST00000366469.5_Missense_Mutation_p.R144Q|ZNF692_ENST00000366471.3_Missense_Mutation_p.R144Q|ZNF692_ENST00000306601.4_Missense_Mutation_p.R144Q|ZNF692_ENST00000468455.1_5'UTR|ZNF692_ENST00000427146.1_Missense_Mutation_p.R144Q	NM_001136036.2	NP_001129508.1	Q9BU19	ZN692_HUMAN	zinc finger protein 692	144					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(6)|lung(7)|stomach(1)	17	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			CCAACTTCTCCGAGTAGTATG	0.547													45	58					0	0	1	0	0	T	249151477	C	T	249151477	3	4	81	1	0	0	0	0	1	0	0	0	18153	652	23	1	1164	1	ZNF692	1	249151477	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	305913	249151477	99144	1624	5240											
PGBD2	267002	broad.mit.edu	37	1	249211110	249211110	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:249211110G>T	ENST00000539153.1	+	4	573	c.318G>T	c.(316-318)caG>caT	p.Q106H	PGBD2_ENST00000355360.4_Intron|PGBD2_ENST00000462488.1_Intron|PGBD2_ENST00000329291.5_Missense_Mutation_p.Q109H			Q6P3X8	PGBD2_HUMAN	piggyBac transposable element derived 2	109										NS(1)|endometrium(3)|lung(6)|ovary(1)|skin(3)	14	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.012)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			TGAAACCTCAGCGCATTTGGA	0.517													9	57					0.000274275	0.000297259	1	1	0	T	249211110	G	T	249211110	3	4	81	1	0	0	0	0	1	0	0	0	11829	962	34	4	333	4	PGBD2	1	249211110	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	59633	249211110	39511	1625	5241											
PGBD2	267002	broad.mit.edu	37	1	249211828	249211828	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:249211828delT	ENST00000355360.4	+	3	562	c.292delT	c.(292-294)tttfs	p.F99fs	PGBD2_ENST00000329291.5_Frame_Shift_Del_p.F350fs|PGBD2_ENST00000539153.1_Frame_Shift_Del_p.F347fs	NM_001017434.1	NP_001017434.1	Q6P3X8	PGBD2_HUMAN	piggyBac transposable element derived 2	350										NS(1)|endometrium(3)|lung(6)|ovary(1)|skin(3)	14	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.012)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			ATATCACATATTTTTTGACAA	0.438													18	164	---	---	---	---						-	249211828	T	-	249211828	7	5	81	1	0	1	0	1	0	0	0	0	11829	1493	52	0	1051	0	PGBD2	1	249211828	Frame_Shift_Del	DEL	T	TCGA-DU-6392-01A-11D-1705-08	718	249211828	38793	1626	5242											
PGBD2	267002	broad.mit.edu	37	1	249212402	249212402	+	Missense_Mutation	SNP	G	G	A	rs139567720		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:249212402G>A	ENST00000355360.4	+	3	1136	c.866G>A	c.(865-867)cGg>cAg	p.R289Q	PGBD2_ENST00000539153.1_Missense_Mutation_p.R537Q|PGBD2_ENST00000329291.5_Missense_Mutation_p.R540Q	NM_001017434.1	NP_001017434.1	Q6P3X8	PGBD2_HUMAN	piggyBac transposable element derived 2	540										NS(1)|endometrium(3)|lung(6)|ovary(1)|skin(3)	14	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.012)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			CGAAGCAGGCGGTTGGAGACT	0.562													37	53					0	0	1	0	0	A	249212402	G	A	249212402	3	1	81	1	0	0	0	0	1	0	0	0	11829	1116	39	1	1625	1	PGBD2	1	249212402	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	574	249212402	38219	1627	5243											
SNTG2	54221	broad.mit.edu	37	2	1241667	1241667	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:1241667G>A	ENST00000308624.5	+	10	856	c.727G>A	c.(727-729)Gcg>Acg	p.A243T	SNTG2_ENST00000407292.1_Missense_Mutation_p.A116T	NM_018968.3	NP_061841.2	Q9NY99	SNTG2_HUMAN	syntrophin, gamma 2	243					central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	actin binding|PDZ domain binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		CAGGTGGAATGCGTTCGAGGT	0.657													3	3					0	0	1	0	0	A	1241667	G	A	1241667	3	1	81	1	0	0	0	0	1	0	0	0	14929	1319	46	2	765	2	SNTG2	2	1241667	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08		1241667	241957706	1628	5244											
TPO	7173	broad.mit.edu	37	2	1418251	1418251	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:1418251C>T	ENST00000345913.4	+	2	162	c.71C>T	c.(70-72)tCg>tTg	p.S24L	TPO_ENST00000497517.2_Intron|TPO_ENST00000539820.1_Missense_Mutation_p.S24L|TPO_ENST00000382198.1_Missense_Mutation_p.S24L|TPO_ENST00000329066.4_Missense_Mutation_p.S24L|TPO_ENST00000346956.3_Missense_Mutation_p.S24L|TPO_ENST00000382269.3_Missense_Mutation_p.S24L|TPO_ENST00000382201.3_Missense_Mutation_p.S24L|TPO_ENST00000349624.3_Missense_Mutation_p.S24L|TPO_ENST00000337415.3_Missense_Mutation_p.S24L	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	24					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	CCCTTCATCTCGAGAGGGAAA	0.453													13	11					0	0	1	0	0	T	1418251	C	T	1418251	3	4	81	1	0	0	0	0	1	0	0	0	16471	893	31	1	73	1	TPO	2	1418251	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	176584	1418251	241781122	1629	5245											
TPO	7173	broad.mit.edu	37	2	1491744	1491744	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:1491744C>T	ENST00000345913.4	+	10	1840	c.1749C>T	c.(1747-1749)ggC>ggT	p.G583G	TPO_ENST00000349624.3_Silent_p.G410G|TPO_ENST00000346956.3_Silent_p.G583G|TPO_ENST00000382198.1_Silent_p.G410G|TPO_ENST00000382201.3_Intron|TPO_ENST00000497517.2_Intron|TPO_ENST00000337415.3_Silent_p.G583G|TPO_ENST00000329066.4_Silent_p.G583G	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	583					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	TGCAGAGGGGCCGGGACCACG	0.592													12	41					0	0	1	0	0	T	1491744	C	T	1491744	2	4	81	1	0	0	0	0	0	0	0	1	16471	726	26	2		2	TPO	2	1491744	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	73493	1491744	241707629	1630	5246											
TPO	7173	broad.mit.edu	37	2	1499859	1499859	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:1499859C>T	ENST00000345913.4	+	12	2196	c.2105C>T	c.(2104-2106)aCc>aTc	p.T702I	TPO_ENST00000349624.3_Missense_Mutation_p.T529I|TPO_ENST00000346956.3_Missense_Mutation_p.T702I|TPO_ENST00000382198.1_Missense_Mutation_p.T529I|TPO_ENST00000382201.3_Missense_Mutation_p.T645I|TPO_ENST00000497517.2_Intron|TPO_ENST00000337415.3_Missense_Mutation_p.T702I|TPO_ENST00000329066.4_Missense_Mutation_p.T702I	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	702					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	ACTGGCCTCACCAGGGTGCCC	0.567													4	37					0	0	1	0	0	T	1499859	C	T	1499859	3	4	81	1	0	0	0	0	1	0	0	0	16471	507	18	2	2147	2	TPO	2	1499859	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	8115	1499859	241699514	1631	5247											
PXDN	7837	broad.mit.edu	37	2	1642691	1642691	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:1642691T>G	ENST00000252804.4	-	21	4183	c.4133A>C	c.(4132-4134)gAt>gCt	p.D1378A		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	1378					extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		CCCAGATGCATCTGAGCGTGT	0.537													23	34					0	0	1	0	0	G	1642691	T	G	1642691	3	3	81	1	0	0	0	0	1	0	0	0	12899	1435	50	4	318	4	PXDN	2	1642691	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	142832	1642691	241556682	1632	5248											
PXDN	7837	broad.mit.edu	37	2	1677432	1677432	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:1677432C>A	ENST00000252804.4	-	9	1051	c.1001G>T	c.(1000-1002)aGg>aTg	p.R334M	PXDN_ENST00000483018.1_5'UTR	NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	334					extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		CCCGAAGTACCTGAGGGTCAC	0.552													48	83					1.00953e-15	1.2904e-15	1	1	0	A	1677432	C	A	1677432	3	1	81	1	0	0	0	0	1	0	0	0	12899	681	24	4	3498	4	PXDN	2	1677432	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	34741	1677432	241521941	1633	5249											
MYT1L	23040	broad.mit.edu	37	2	1795747	1795747	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:1795747G>A	ENST00000399161.2	-	25	4200	c.3453C>T	c.(3451-3453)taC>taT	p.Y1151Y	MYT1L_ENST00000428368.2_Silent_p.Y1149Y|MYT1L_ENST00000407844.1_Silent_p.Y149Y	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	1151					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		AAGTAGTCACGTAAGCATCAA	0.308													11	13					0	0	1	0	0	A	1795747	G	A	1795747	2	1	81	1	0	0	0	0	0	0	0	1	10155	1140	40	1		1	MYT1L	2	1795747	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	118315	1795747	241403626	1634	5250											
MYT1L	23040	broad.mit.edu	37	2	1855461	1855461	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:1855461C>T	ENST00000399161.2	-	19	3473	c.2726G>A	c.(2725-2727)gGc>gAc	p.G909D	MYT1L_ENST00000428368.2_Missense_Mutation_p.G907D	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	909					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		ACCATCACAGCCAGGCGTGGG	0.383													8	82					0	0	1	0	0	T	1855461	C	T	1855461	3	4	81	1	0	0	0	0	1	0	0	0	10155	739	26	2	862	2	MYT1L	2	1855461	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	59714	1855461	241343912	1635	5251											
MYT1L	23040	broad.mit.edu	37	2	1891356	1891356	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:1891356T>A	ENST00000399161.2	-	17	3293	c.2546A>T	c.(2545-2547)gAg>gTg	p.E849V	MYT1L_ENST00000428368.2_Missense_Mutation_p.E847V	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	849					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		TTCTAGAGCCTCCTGGAATGG	0.527													30	81					0	0	1	0	0	A	1891356	T	A	1891356	3	1	81	1	0	0	0	0	1	0	0	0	10155	1551	54	5	1050	5	MYT1L	2	1891356	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	35895	1891356	241308017	1636	5252											
MYT1L	23040	broad.mit.edu	37	2	1914072	1914072	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:1914072T>C	ENST00000399161.2	-	13	2504	c.1757A>G	c.(1756-1758)cAg>cGg	p.Q586R	MYT1L_ENST00000428368.2_Missense_Mutation_p.Q584R	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	586					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		GTGCTTTTCCTGTGCCTTGGC	0.592													7	23					0	0	1	0	0	C	1914072	T	C	1914072	3	2	81	1	0	0	0	0	1	0	0	0	10155	1580	55	3	1855	3	MYT1L	2	1914072	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	22716	1914072	241285301	1637	5253											
MYT1L	23040	broad.mit.edu	37	2	1982978	1982978	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:1982978G>A	ENST00000399161.2	-	8	858	c.111C>T	c.(109-111)gaC>gaT	p.D37D	MYT1L_ENST00000428368.2_Silent_p.D37D	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	37					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		GACCACTGCCGTCACAGCCAG	0.517													5	5					0	0	1	0	0	A	1982978	G	A	1982978	2	1	81	1	0	0	0	0	0	0	0	1	10155	1136	40	1		1	MYT1L	2	1982978	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	68906	1982978	241216395	1638	5254											
ADI1	55256	broad.mit.edu	37	2	3504690	3504690	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:3504690G>A	ENST00000382093.5	-	3	3134	c.297C>T	c.(295-297)ttC>ttT	p.F99F	ADI1_ENST00000327435.6_Silent_p.F105F			Q9BV57	MTND_HUMAN	acireductone dioxygenase 1	105					L-methionine salvage from methylthioadenosine	cytoplasm|nucleus|plasma membrane	acireductone dioxygenase (Ni2+-requiring) activity|metal ion binding|protein binding			breast(2)|large_intestine(2)|lung(4)|ovary(1)|stomach(1)	10	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)			OV - Ovarian serous cystadenocarcinoma(76;0.0729)|Epithelial(75;0.173)|all cancers(51;0.228)		CCCTCACATCGAAGTACCCAC	0.537													15	25					0	0	1	0	0	A	3504690	G	A	3504690	2	1	81	1	0	0	0	0	0	0	0	1	314	1049	37	1		1	ADI1	2	3504690	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1521712	3504690	239694683	1639	5255											
ALLC	55821	broad.mit.edu	37	2	3743461	3743461	+	Splice_Site	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:3743461A>G	ENST00000252505.3	+	8	828	c.666A>G	c.(664-666)atA>atG	p.I222M	ALLC_ENST00000471711.1_3'UTR	NM_018436.3	NP_060906.3	Q8N6M5	ALLC_HUMAN	allantoicase	241							allantoicase activity			breast(4)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	30	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.088)	all_cancers(51;0.24)		OV - Ovarian serous cystadenocarcinoma(76;0.088)|all cancers(51;0.151)|Epithelial(75;0.206)		ACAATATAATAGGTAAGATGA	0.433										HNSCC(21;0.051)			5	28					0	0	1	0	0	G	3743461	A	G	3743461	5	3	81	1	0	0	0	0	0	0	1	0	530	434	15	3	692	3	ALLC	2	3743461	Splice_Site	SNP	A	TCGA-DU-6392-01A-11D-1705-08	238771	3743461	239455912	1640	5256											
ALLC	55821	broad.mit.edu	37	2	3750056	3750056	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:3750056G>A	ENST00000252505.3	+	12	1241	c.1079G>A	c.(1078-1080)cGc>cAc	p.R360H		NM_018436.3	NP_060906.3	Q8N6M5	ALLC_HUMAN	allantoicase	379							allantoicase activity			breast(4)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	30	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.088)	all_cancers(51;0.24)		OV - Ovarian serous cystadenocarcinoma(76;0.088)|all cancers(51;0.151)|Epithelial(75;0.206)		GGAGTGAGCCGCCTTCGGCTC	0.592										HNSCC(21;0.051)			11	11					0	0	1	0	0	A	3750056	G	A	3750056	3	1	81	1	0	0	0	0	1	0	0	0	530	1087	38	1	1121	1	ALLC	2	3750056	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	6595	3750056	239449317	1641	5257											
RSAD2	91543	broad.mit.edu	37	2	7018121	7018121	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:7018121G>T	ENST00000382040.3	+	1	326	c.190G>T	c.(190-192)Gag>Tag	p.E64*		NM_080657.4	NP_542388.2	Q8WXG1	RSAD2_HUMAN	radical S-adenosyl methionine domain containing 2	64					defense response to virus	endoplasmic reticulum membrane|Golgi apparatus	catalytic activity|iron-sulfur cluster binding|metal ion binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)	20	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			OV - Ovarian serous cystadenocarcinoma(76;0.191)		AGAGGAGGAAGAGGACCCTCC	0.557													13	34					2.61681e-11	3.23796e-11	1	1	0	T	7018121	G	T	7018121	4	4	81	1	0	0	0	0	0	1	0	0	13747	943	33	4	192	4	RSAD2	2	7018121	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	3268065	7018121	236181252	1642	5258											
RNF144A	9781	broad.mit.edu	37	2	7170284	7170284	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:7170284A>G	ENST00000320892.6	+	8	1127	c.685A>G	c.(685-687)Aag>Gag	p.K229E	RNF144A_ENST00000467276.1_3'UTR	NM_014746.3	NP_055561.2	P50876	R144A_HUMAN	ring finger protein 144A	229						Golgi apparatus|integral to membrane	ligase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)	25	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)	all_cancers(51;0.226)		OV - Ovarian serous cystadenocarcinoma(76;0.195)		ACACTACGATAAGGGACCCTG	0.542													28	40					0	0	1	0	0	G	7170284	A	G	7170284	3	3	81	1	0	0	0	0	1	0	0	0	13497	363	13	3	707	3	RNF144A	2	7170284	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	152163	7170284	236029089	1643	5259											
KIDINS220	57498	broad.mit.edu	37	2	8938388	8938388	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:8938388C>A	ENST00000256707.3	-	10	1124	c.943G>T	c.(943-945)Gca>Tca	p.A315S	KIDINS220_ENST00000427284.1_Missense_Mutation_p.A315S|KIDINS220_ENST00000473731.1_Missense_Mutation_p.A315S|KIDINS220_ENST00000319688.5_Missense_Mutation_p.A316S|KIDINS220_ENST00000418530.1_Missense_Mutation_p.A273S	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	315					activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					ACCATTGTTGCATTTCCTTTC	0.328													18	42					8.34094e-07	9.62661e-07	1	1	0	A	8938388	C	A	8938388	3	1	81	1	0	0	0	0	1	0	0	0	8313	710	25	5	4456	5	KIDINS220	2	8938388	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1768104	8938388	234260985	1644	5260											
KIDINS220	57498	broad.mit.edu	37	2	8957802	8957802	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:8957802C>T	ENST00000256707.3	-	4	433	c.252G>A	c.(250-252)gtG>gtA	p.V84V	KIDINS220_ENST00000427284.1_Silent_p.V84V|KIDINS220_ENST00000473731.1_Silent_p.V84V|KIDINS220_ENST00000319688.5_Silent_p.V84V|KIDINS220_ENST00000418530.1_Silent_p.V42V	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	84					activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					CTACGATGTGCACATGCCCTT	0.333													35	59					0	0	1	0	0	T	8957802	C	T	8957802	2	4	81	1	0	0	0	0	0	0	0	1	8313	697	25	2		2	KIDINS220	2	8957802	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	19414	8957802	234241571	1645	5261											
MBOAT2	129642	broad.mit.edu	37	2	8998833	8998833	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:8998833C>T	ENST00000305997.3	-	13	1737	c.1539G>A	c.(1537-1539)tcG>tcA	p.S513S		NM_138799.2	NP_620154.2	Q6ZWT7	MBOA2_HUMAN	membrane bound O-acyltransferase domain containing 2	513					phospholipid biosynthetic process	integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity		MBOAT2/PRKCE(2)	endometrium(2)|kidney(1)|large_intestine(9)|lung(2)|skin(1)	15	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					ATGAATGTCTCGAGGCTATTT	0.373													39	51					0	0	1	0	0	T	8998833	C	T	8998833	2	4	81	1	0	0	0	0	0	0	0	1	9407	871	31	1		1	MBOAT2	2	8998833	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	41031	8998833	234200540	1646	5262											
ASAP2	8853	broad.mit.edu	37	2	9475264	9475264	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:9475264C>T	ENST00000281419.3	+	9	1145	c.805C>T	c.(805-807)Ctt>Ttt	p.L269F	ASAP2_ENST00000315273.4_Missense_Mutation_p.L269F	NM_003887.2	NP_003878.1	O43150	ASAP2_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 2	269					regulation of ARF GTPase activity	Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|protein binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	36						GTTGATACAGCTTCGAGATAT	0.403													22	37					0	0	1	0	0	T	9475264	C	T	9475264	3	4	81	1	0	0	0	0	1	0	0	0	1010	797	28	2	839	2	ASAP2	2	9475264	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	476431	9475264	233724109	1647	5263											
ASAP2	8853	broad.mit.edu	37	2	9496443	9496443	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:9496443C>T	ENST00000281419.3	+	14	1636	c.1296C>T	c.(1294-1296)ggC>ggT	p.G432G	ASAP2_ENST00000315273.4_Silent_p.G432G	NM_003887.2	NP_003878.1	O43150	ASAP2_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 2	432	Arf-GAP.				regulation of ARF GTPase activity	Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|protein binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	36						GGATGACGGGCAATGACGTCT	0.502													11	38					0	0	1	0	0	T	9496443	C	T	9496443	2	4	81	1	0	0	0	0	0	0	0	1	1010	697	25	2		2	ASAP2	2	9496443	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	21179	9496443	233702930	1648	5264											
ITGB1BP1	9270	broad.mit.edu	37	2	9558819	9558819	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:9558819C>T	ENST00000360635.3	-	3	904	c.8G>A	c.(7-9)cGc>cAc	p.R3H	ITGB1BP1_ENST00000456913.2_Missense_Mutation_p.R3H|ITGB1BP1_ENST00000490426.1_Intron|ITGB1BP1_ENST00000488451.1_Missense_Mutation_p.R3H|ITGB1BP1_ENST00000355346.4_Missense_Mutation_p.R3H|ITGB1BP1_ENST00000238091.4_Missense_Mutation_p.R3H|ITGB1BP1_ENST00000359712.3_Missense_Mutation_p.R3H			O14713	ITBP1_HUMAN	integrin beta 1 binding protein 1	3					cell migration|cell-matrix adhesion|intracellular protein kinase cascade	cytosol|lamellipodium|membrane|ruffle	protein binding			kidney(2)|large_intestine(2)|lung(2)|prostate(2)	8	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.23)		TTTGCCCTTGCGAAACATTTT	0.373													82	159					0	0	1	0	0	T	9558819	C	T	9558819	3	4	81	1	0	0	0	0	1	0	0	0	7935	768	27	1	618	1	ITGB1BP1	2	9558819	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	62376	9558819	233640554	1649	5265											
CPSF3	51692	broad.mit.edu	37	2	9571002	9571002	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:9571002A>G	ENST00000460593.1	+	4	1361	c.223A>G	c.(223-225)Aaa>Gaa	p.K75E	CPSF3_ENST00000238112.3_Missense_Mutation_p.K112E			Q9UKF6	CPSF3_HUMAN	cleavage and polyadenylation specific factor 3, 73kDa	112					histone mRNA 3'-end processing|mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex|ribonucleoprotein complex	5'-3' exonuclease activity|endoribonuclease activity|metal ion binding|protein binding|RNA binding			NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)	all_cancers(51;2.39e-25)|all_epithelial(98;8.75e-19)|Lung NSC(108;2.38e-06)|Ovarian(717;0.0308)		all cancers(51;2.2e-40)|Epithelial(75;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(76;4.35e-21)|STAD - Stomach adenocarcinoma(1183;0.00644)		TGATTATGTCAAAGTTAGGTA	0.348													34	43					0	0	1	0	0	G	9571002	A	G	9571002	3	3	81	1	0	0	0	0	1	0	0	0	3849	131	5	3	348	3	CPSF3	2	9571002	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	12183	9571002	233628371	1650	5266											
YWHAQ	10971	broad.mit.edu	37	2	9770415	9770415	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:9770415C>A	ENST00000381844.4	-	1	330	c.167G>T	c.(166-168)aGg>aTg	p.R56M	YWHAQ_ENST00000238081.3_Missense_Mutation_p.R56M			P27348	1433T_HUMAN	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, theta polypeptide	56		Interaction with phosphoserine on interacting protein.			negative regulation of transcription, DNA-dependent	centrosome|nucleus	protein N-terminus binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	6	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.241)		CCAGGCGGACCTGCGGCCCCC	0.612													4	33					0.00116845	0.00124301	1	1	0	A	9770415	C	A	9770415	3	1	81	1	0	0	0	0	1	0	0	0	17565	681	24	4	590	4	YWHAQ	2	9770415	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	199413	9770415	233428958	1651	5267											
TAF1B	9014	broad.mit.edu	37	2	10045094	10045094	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:10045094A>G	ENST00000263663.5	+	9	1102	c.914A>G	c.(913-915)aAc>aGc	p.N305S	TAF1B_ENST00000396242.3_Missense_Mutation_p.N50S	NM_005680.2	NP_005671	Q53T94	TAF1B_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, B, 63kDa	305					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	14	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					CTTCATCCCAACATACTGTGT	0.383													34	55					0	0	1	0	0	G	10045094	A	G	10045094	3	3	81	1	0	0	0	0	1	0	0	0	15577	43	2	3	948	3	TAF1B	2	10045094	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	274679	10045094	233154279	1652	5268											
HPCAL1	3241	broad.mit.edu	37	2	10566879	10566879	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:10566879G>T	ENST00000381765.3	+	6	1040	c.514G>T	c.(514-516)Ggt>Tgt	p.G172C	HPCAL1_ENST00000307845.3_Missense_Mutation_p.G172C	NM_134421.2	NP_602293.1	P37235	HPCL1_HUMAN	hippocalcin-like 1	172	EF-hand 4.						calcium ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	9	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.214)		ATTCATCAGAGGTGCCAAGAG	0.572													47	69					1.54043e-34	2.06195e-34	1	1	0	T	10566879	G	T	10566879	3	4	81	1	0	0	0	0	1	0	0	0	7371	1000	35	4	524	4	HPCAL1	2	10566879	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	521785	10566879	232632494	1653	5269											
ODC1	4953	broad.mit.edu	37	2	10580867	10580867	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:10580867C>T	ENST00000234111.4	-	12	1879	c.1369G>A	c.(1369-1371)Gct>Act	p.A457T	ODC1_ENST00000405333.1_Missense_Mutation_p.A457T	NM_002539.1	NP_002530.1	P11926	DCOR_HUMAN	ornithine decarboxylase 1	457					polyamine biosynthetic process|regulation of cellular amino acid metabolic process|response to virus	cytosol	ornithine decarboxylase activity|protein binding			NS(1)|central_nervous_system(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|skin(3)	19	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.161)	Pyridoxal Phosphate(DB00114)|Spermine(DB00127)	TTAATACTAGCCGAAGCACAG	0.493													20	48					0	0	1	0	0	T	10580867	C	T	10580867	3	4	81	1	0	0	0	0	1	0	0	0	10873	739	26	2	20	2	ODC1	2	10580867	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	13988	10580867	232618506	1654	5270											
ODC1	4953	broad.mit.edu	37	2	10582301	10582301	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:10582301C>A	ENST00000234111.4	-	9	1261		c.e9-1		ODC1_ENST00000405333.1_Splice_Site	NM_002539.1	NP_002530.1	P11926	DCOR_HUMAN	ornithine decarboxylase 1						polyamine biosynthetic process|regulation of cellular amino acid metabolic process|response to virus	cytosol	ornithine decarboxylase activity|protein binding			NS(1)|central_nervous_system(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|skin(3)	19	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.161)	Pyridoxal Phosphate(DB00114)|Spermine(DB00127)	CGCCGGTGATCTAAGAGAGTG	0.473													7	42					0.0477658	0.0487066	1	1	0	A	10582301	C	A	10582301	5	1	81	1	0	0	0	0	0	0	1	0	10873	927	32	4	651	4	ODC1	2	10582301	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1434	10582301	232617072	1655	5271											
NOL10	79954	broad.mit.edu	37	2	10712240	10712240	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:10712240C>A	ENST00000345985.3	-	20	1984	c.1874G>T	c.(1873-1875)gGa>gTa	p.G625V	NOL10_ENST00000538384.1_Missense_Mutation_p.G649V|NOL10_ENST00000381685.5_Missense_Mutation_p.G675V|NOL10_ENST00000542668.1_Missense_Mutation_p.G625V	NM_001261394.1	NP_001248323.1	Q9BSC4	NOL10_HUMAN	nucleolar protein 10	675						nucleolus						Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.207)		CTTCAGGTGTCCGGCCGAACG	0.473													89	125					4.98208e-43	6.69549e-43	1	1	0	A	10712240	C	A	10712240	3	1	81	1	0	0	0	0	1	0	0	0	10567	855	30	5	46	5	NOL10	2	10712240	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	129939	10712240	232487133	1656	5272											
KCNF1	3754	broad.mit.edu	37	2	11053082	11053082	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:11053082C>T	ENST00000295082.1	+	1	1020	c.530C>T	c.(529-531)tCg>tTg	p.S177L		NM_002236.4	NP_002227.2	Q9H3M0	KCNF1_HUMAN	potassium voltage-gated channel, subfamily F, member 1	177						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(2)|skin(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.128)		AAGCCCGAGTCGTCGTGCCCG	0.687													13	20					0	0	1	0	0	T	11053082	C	T	11053082	3	4	81	1	0	0	0	0	1	0	0	0	8070	893	31	1	532	1	KCNF1	2	11053082	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	340842	11053082	232146291	1657	5273											
KCNF1	3754	broad.mit.edu	37	2	11053347	11053347	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:11053347C>A	ENST00000295082.1	+	1	1285	c.795C>A	c.(793-795)ccC>ccA	p.P265P		NM_002236.4	NP_002227.2	Q9H3M0	KCNF1_HUMAN	potassium voltage-gated channel, subfamily F, member 1	265						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(2)|skin(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.128)		CCATCCTCCCCTTCTACGTGA	0.627													10	30					0.00010058	0.000110448	1	1	0	A	11053347	C	A	11053347	2	1	81	1	0	0	0	0	0	0	0	1	8070	668	24	4		4	KCNF1	2	11053347	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	265	11053347	232146026	1658	5274											
KCNF1	3754	broad.mit.edu	37	2	11053694	11053694	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:11053694C>T	ENST00000295082.1	+	1	1632	c.1142C>T	c.(1141-1143)aCg>aTg	p.T381M		NM_002236.4	NP_002227.2	Q9H3M0	KCNF1_HUMAN	potassium voltage-gated channel, subfamily F, member 1	381						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(2)|skin(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.128)		CCCAAGACCACGCTGGGCAAG	0.572													10	24					0	0	1	0	0	T	11053694	C	T	11053694	3	4	81	1	0	0	0	0	1	0	0	0	8070	536	19	1	1144	1	KCNF1	2	11053694	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	347	11053694	232145679	1659	5275											
ROCK2	9475	broad.mit.edu	37	2	11348503	11348503	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:11348503C>A	ENST00000315872.6	-	19	2722	c.2274G>T	c.(2272-2274)gaG>gaT	p.E758D	ROCK2_ENST00000401753.1_Missense_Mutation_p.E515D	NM_004850.3	NP_004841.2	O75116	ROCK2_HUMAN	Rho-associated, coiled-coil containing protein kinase 2	758	Interaction with PPP1R12A.				axon guidance|cytokinesis|intracellular signal transduction	cytosol|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|structural molecule activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2)	43	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)		AACATCTTTTCTCAGCTTCTA	0.343													7	22					0.000157383	0.000171784	1	1	0	A	11348503	C	A	11348503	3	1	81	1	0	0	0	0	1	0	0	0	13570	912	32	4	1952	4	ROCK2	2	11348503	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	294809	11348503	231850870	1660	5276											
ROCK2	9475	broad.mit.edu	37	2	11361333	11361333	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:11361333C>A	ENST00000315872.6	-	9	1698	c.1250G>T	c.(1249-1251)aGa>aTa	p.R417I	ROCK2_ENST00000401753.1_Missense_Mutation_p.R174I	NM_004850.3	NP_004841.2	O75116	ROCK2_HUMAN	Rho-associated, coiled-coil containing protein kinase 2	417	AGC-kinase C-terminal.|Interaction with NPM1.|Interaction with PPP1R12A.				axon guidance|cytokinesis|intracellular signal transduction	cytosol|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|structural molecule activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2)	43	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)		CAAATTTTCTCTATAGTAGGT	0.308													5	125					0.00116845	0.00124301	1	1	0	A	11361333	C	A	11361333	3	1	81	1	0	0	0	0	1	0	0	0	13570	913	32	4	3016	4	ROCK2	2	11361333	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	12830	11361333	231838040	1661	5277											
GREB1	9687	broad.mit.edu	37	2	11716623	11716623	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:11716623C>A	ENST00000381486.2	+	5	899	c.599C>A	c.(598-600)aCt>aAt	p.T200N	GREB1_ENST00000381483.2_Missense_Mutation_p.T200N|GREB1_ENST00000234142.5_Missense_Mutation_p.T200N|GREB1_ENST00000263834.5_Missense_Mutation_p.T200N|GREB1_ENST00000389825.3_Missense_Mutation_p.T90N	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	200						integral to membrane				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		GCACAAGGGACTCTAACCAAA	0.498													26	78					9.39395e-14	1.1871e-13	1	1	0	A	11716623	C	A	11716623	3	1	81	1	0	0	0	0	1	0	0	0	6801	565	20	4	613	4	GREB1	2	11716623	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	355290	11716623	231482750	1662	5278											
GREB1	9687	broad.mit.edu	37	2	11735422	11735422	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:11735422C>T	ENST00000381486.2	+	12	2042	c.1742C>T	c.(1741-1743)gCg>gTg	p.A581V	GREB1_ENST00000234142.5_Missense_Mutation_p.A581V	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	581						integral to membrane				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		CTCACTCCTGCGGAGTACCAG	0.522													14	19					0	0	1	0	0	T	11735422	C	T	11735422	3	4	81	1	0	0	0	0	1	0	0	0	6801	768	27	1	1892	1	GREB1	2	11735422	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	18799	11735422	231463951	1663	5279											
GREB1	9687	broad.mit.edu	37	2	11750821	11750821	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:11750821C>T	ENST00000381486.2	+	18	2974	c.2674C>T	c.(2674-2676)Cgc>Tgc	p.R892C	GREB1_ENST00000234142.5_Missense_Mutation_p.R892C	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	892						integral to membrane				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		CAGGTTCCCCCGCCTGCACAG	0.627													18	18					0	0	1	0	0	T	11750821	C	T	11750821	3	4	81	1	0	0	0	0	1	0	0	0	6801	652	23	1	2848	1	GREB1	2	11750821	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	15399	11750821	231448552	1664	5280											
NBAS	51594	broad.mit.edu	37	2	15359051	15359051	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:15359051C>T	ENST00000281513.5	-	48	6303	c.6278G>A	c.(6277-6279)cGg>cAg	p.R2093Q	NBAS_ENST00000441750.1_Missense_Mutation_p.R1973Q	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	2093										NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						ACAGAAAGGCCGCAGCCACTC	0.557													17	20					0	0	1	0	0	T	15359051	C	T	15359051	3	4	81	1	0	0	0	0	1	0	0	0	10234	652	23	1	857	1	NBAS	2	15359051	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3608230	15359051	227840322	1665	5281											
NBAS	51594	broad.mit.edu	37	2	15378705	15378705	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:15378705C>T	ENST00000281513.5	-	45	5855	c.5830G>A	c.(5830-5832)Gct>Act	p.A1944T	NBAS_ENST00000441750.1_Missense_Mutation_p.A1824T	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	1944								p.A1944T(1)		NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						GAATCCTTAGCTTCTTGAGCT	0.413													31	47					0	0	1	0	0	T	15378705	C	T	15378705	3	4	81	1	0	0	0	0	1	0	0	0	10234	797	28	2	1317	2	NBAS	2	15378705	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	19654	15378705	227820668	1666	5282											
NBAS	51594	broad.mit.edu	37	2	15607493	15607493	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:15607493C>T	ENST00000281513.5	-	19	2082	c.2057G>A	c.(2056-2058)cGg>cAg	p.R686Q	NBAS_ENST00000441750.1_Missense_Mutation_p.R686Q	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	686										NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						TAATAACTTCCGTCTACAACG	0.318													5	58					0	0	1	0	0	T	15607493	C	T	15607493	3	4	81	1	0	0	0	0	1	0	0	0	10234	652	23	1	5194	1	NBAS	2	15607493	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	228788	15607493	227591880	1667	5283											
RAD51AP2	729475	broad.mit.edu	37	2	17698269	17698269	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:17698269C>T	ENST00000399080.2	-	1	1437	c.1414G>A	c.(1414-1416)Gct>Act	p.A472T		NM_001099218.2	NP_001092688.1	Q09MP3	R51A2_HUMAN	RAD51 associated protein 2	472										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					GTTATTAAAGCTGTCTGACTA	0.348													3	29					0	0	1	0	0	T	17698269	C	T	17698269	3	4	81	1	0	0	0	0	1	0	0	0	13039	797	28	2	2077	2	RAD51AP2	2	17698269	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2090776	17698269	225501104	1668	5284											
SMC6	79677	broad.mit.edu	37	2	17888593	17888593	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:17888593A>G	ENST00000448223.2	-	18	2168	c.1899T>C	c.(1897-1899)tgT>tgC	p.C633C	SMC6_ENST00000351948.4_Silent_p.C633C|SMC6_ENST00000381272.4_Silent_p.C659C|SMC6_ENST00000402989.1_Silent_p.C633C	NM_001142286.1	NP_001135758.1	Q96SB8	SMC6_HUMAN	structural maintenance of chromosomes 6	633	Flexible hinge.				DNA recombination|DNA repair	chromosome|nucleus	ATP binding			NS(1)|biliary_tract(1)|breast(6)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					AAGCTTCTCTACAATTTTTGG	0.343													28	34					0	0	1	0	0	G	17888593	A	G	17888593	2	3	81	1	0	0	0	0	0	0	0	1	14841	389	14	3		3	SMC6	2	17888593	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	190324	17888593	225310780	1669	5285											
SMC6	79677	broad.mit.edu	37	2	17889964	17889964	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:17889964G>A	ENST00000448223.2	-	17	2056	c.1787C>T	c.(1786-1788)gCg>gTg	p.A596V	SMC6_ENST00000351948.4_Missense_Mutation_p.A596V|SMC6_ENST00000381272.4_Missense_Mutation_p.A622V|SMC6_ENST00000402989.1_Missense_Mutation_p.A596V	NM_001142286.1	NP_001135758.1	Q96SB8	SMC6_HUMAN	structural maintenance of chromosomes 6	596	Flexible hinge.				DNA recombination|DNA repair	chromosome|nucleus	ATP binding			NS(1)|biliary_tract(1)|breast(6)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TGCCACAACCGCATTATCTAT	0.358													28	46					0	0	1	0	0	A	17889964	G	A	17889964	3	1	81	1	0	0	0	0	1	0	0	0	14841	1087	38	1	1536	1	SMC6	2	17889964	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1371	17889964	225309409	1670	5286											
SMC6	79677	broad.mit.edu	37	2	17902486	17902486	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:17902486G>A	ENST00000448223.2	-	10	1038	c.769C>T	c.(769-771)Cgt>Tgt	p.R257C	SMC6_ENST00000351948.4_Missense_Mutation_p.R257C|SMC6_ENST00000381272.4_Missense_Mutation_p.R283C|SMC6_ENST00000402989.1_Missense_Mutation_p.R257C	NM_001142286.1	NP_001135758.1	Q96SB8	SMC6_HUMAN	structural maintenance of chromosomes 6	257					DNA recombination|DNA repair	chromosome|nucleus	ATP binding			NS(1)|biliary_tract(1)|breast(6)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					CTTTGAAAACGTTCCTCTTTC	0.333													27	30					0	0	1	0	0	A	17902486	G	A	17902486	3	1	81	1	0	0	0	0	1	0	0	0	14841	1145	40	1	2582	1	SMC6	2	17902486	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	12522	17902486	225296887	1671	5287											
GEN1	348654	broad.mit.edu	37	2	17946245	17946245	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:17946245G>A	ENST00000381254.2	+	4	644	c.430G>A	c.(430-432)Gct>Act	p.A144T	SMC6_ENST00000402989.1_Intron|GEN1_ENST00000317402.7_Missense_Mutation_p.A144T	NM_001130009.1	NP_001123481.1	Q17RS7	GEN_HUMAN	GEN1 Holliday junction 5' flap endonuclease	144	I-domain.				DNA repair	nucleus	DNA binding|endonuclease activity|metal ion binding			breast(6)|central_nervous_system(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TTATCTCAATGCTGGTGGTCA	0.473								Homologous recombination					33	60					0	0	1	0	0	A	17946245	G	A	17946245	3	1	81	1	0	0	0	0	1	0	0	0	6377	1319	46	2	440	2	GEN1	2	17946245	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	43759	17946245	225253128	1672	5288											
GEN1	348654	broad.mit.edu	37	2	17946267	17946267	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:17946267G>A	ENST00000381254.2	+	4	666	c.452G>A	c.(451-453)tGc>tAc	p.C151Y	SMC6_ENST00000402989.1_Intron|GEN1_ENST00000317402.7_Missense_Mutation_p.C151Y	NM_001130009.1	NP_001123481.1	Q17RS7	GEN_HUMAN	GEN1 Holliday junction 5' flap endonuclease	151	I-domain.				DNA repair	nucleus	DNA binding|endonuclease activity|metal ion binding			breast(6)|central_nervous_system(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					GTCGATGGCTGCCTCACCAAT	0.458								Homologous recombination					39	62					0	0	1	0	0	A	17946267	G	A	17946267	3	1	81	1	0	0	0	0	1	0	0	0	6377	1319	46	2	462	2	GEN1	2	17946267	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	22	17946267	225253106	1673	5289											
KCNS3	3790	broad.mit.edu	37	2	18112667	18112667	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:18112667A>G	ENST00000403915.1	+	3	843	c.392A>G	c.(391-393)aAg>aGg	p.K131R	KCNS3_ENST00000465292.1_Intron|KCNS3_ENST00000304101.4_Missense_Mutation_p.K131R	NM_001282428.1	NP_001269357.1	Q9BQ31	KCNS3_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 3	131					energy reserve metabolic process|regulation of insulin secretion	Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium channel regulator activity			endometrium(5)|kidney(1)|large_intestine(7)|lung(11)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					AACCACGAGAAGGACTGGGAC	0.493													3	48					0	0	1	0	0	G	18112667	A	G	18112667	3	3	81	1	0	0	0	0	1	0	0	0	8134	72	3	3	394	3	KCNS3	2	18112667	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	166400	18112667	225086706	1674	5290											
KCNS3	3790	broad.mit.edu	37	2	18113005	18113005	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:18113005G>A	ENST00000403915.1	+	3	1181	c.730G>A	c.(730-732)Gct>Act	p.A244T	KCNS3_ENST00000465292.1_Intron|KCNS3_ENST00000304101.4_Missense_Mutation_p.A244T	NM_001282428.1	NP_001269357.1	Q9BQ31	KCNS3_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 3	244					energy reserve metabolic process|regulation of insulin secretion	Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium channel regulator activity			endometrium(5)|kidney(1)|large_intestine(7)|lung(11)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					GCTGGCTGCCGCTCCTTGTCA	0.522													33	60					0	0	1	0	0	A	18113005	G	A	18113005	3	1	81	1	0	0	0	0	1	0	0	0	8134	1087	38	1	732	1	KCNS3	2	18113005	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	338	18113005	225086368	1675	5291											
NT5C1B	93034	broad.mit.edu	37	2	18745165	18745165	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:18745165A>G	ENST00000304081.4	-	9	1650	c.1550T>C	c.(1549-1551)aTc>aCc	p.I517T	NT5C1B_ENST00000359846.2_Missense_Mutation_p.I577T|NT5C1B_ENST00000600945.1_Missense_Mutation_p.I577T|NT5C1B-RDH14_ENST00000532967.1_Missense_Mutation_p.I577T	NM_033253.3	NP_150278.2			5'-nucleotidase, cytosolic IB											endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)	Ovarian(717;0.208)				GTGGGGCCGGATCTTCACCAA	0.502													35	64					0	0	1	0	0	G	18745165	A	G	18745165	3	3	81	1	0	0	0	0	1	0	0	0	10734	333	12	3	106	3	NT5C1B	2	18745165	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	632160	18745165	224454208	1676	5292											
NT5C1B	93034	broad.mit.edu	37	2	18764135	18764135	+	Splice_Site	SNP	G	G	A	rs148193506	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:18764135G>A	ENST00000304081.4	-	6	1120	c.1020C>T	c.(1018-1020)taC>taT	p.Y340Y	NT5C1B_ENST00000359846.2_Splice_Site_p.Y400Y|NT5C1B_ENST00000600945.1_Splice_Site_p.Y400Y|NT5C1B-RDH14_ENST00000532967.1_Splice_Site_p.Y400Y	NM_033253.3	NP_150278.2			5'-nucleotidase, cytosolic IB											endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)	Ovarian(717;0.208)				TTTACTTACCGTAGTGATTGA	0.408													5	48					0	0	1	0	0	A	18764135	G	A	18764135	5	1	81	1	0	0	0	0	0	0	1	0	10734	1159	40	1	648	1	NT5C1B	2	18764135	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	18970	18764135	224435238	1677	5293											
NT5C1B	93034	broad.mit.edu	37	2	18766032	18766032	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:18766032G>T	ENST00000304081.4	-	4	571	c.471C>A	c.(469-471)gcC>gcA	p.A157A	NT5C1B_ENST00000359846.2_Silent_p.A217A|NT5C1B_ENST00000600945.1_Silent_p.A217A|NT5C1B-RDH14_ENST00000532967.1_Silent_p.A217A	NM_033253.3	NP_150278.2			5'-nucleotidase, cytosolic IB											endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)	Ovarian(717;0.208)				CGATGCCTTGGGCCCAGGCCT	0.692													5	10					0.000602214	0.000646338	1	1	0	T	18766032	G	T	18766032	2	4	81	1	0	0	0	0	0	0	0	1	10734	1219	43	5		5	NT5C1B	2	18766032	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1897	18766032	224433341	1678	5294											
OSR1	130497	broad.mit.edu	37	2	19553015	19553015	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:19553015G>T	ENST00000536433.1	-	1	3662	c.552C>A	c.(550-552)ttC>ttA	p.F184L	OSR1_ENST00000272223.2_Missense_Mutation_p.F184L			Q8TAX0	OSR1_HUMAN	odd-skipped related transciption factor 1	184					chondrocyte differentiation|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic leg joint morphogenesis|embryonic skeletal joint morphogenesis|heart development|mesangial cell development|mesonephric duct morphogenesis|metanephric cap mesenchymal cell proliferation involved in metanephros development|metanephric glomerulus vasculature development|metanephric interstitial cell development|metanephric mesenchymal cell differentiation|metanephric nephron tubule development|metanephric smooth muscle tissue development|middle ear morphogenesis|negative regulation of apoptosis|negative regulation of nephron tubule epithelial cell differentiation|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|pattern specification involved in metanephros development|positive regulation of bone mineralization|positive regulation of epithelial cell proliferation|positive regulation of gastrulation|positive regulation of transcription from RNA polymerase II promoter|pronephros development|renal vesicle progenitor cell differentiation|specification of anterior mesonephric tubule identity|specification of posterior mesonephric tubule identity|stem cell differentiation|transcription, DNA-dependent|ureter urothelium development|ureteric bud development	nucleolus	nucleic acid binding|zinc ion binding			breast(1)|large_intestine(2)|lung(4)|ovary(1)	8	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)	Acute lymphoblastic leukemia(84;0.221)				AGGACTTGGTGAAGTGGCGGC	0.562													36	63					1.7489e-18	2.26942e-18	1	1	0	T	19553015	G	T	19553015	3	4	81	1	0	0	0	0	1	0	0	0	11340	1281	45	5	256	5	OSR1	2	19553015	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	786983	19553015	223646358	1679	5295											
WDR35	57539	broad.mit.edu	37	2	20130200	20130200	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:20130200C>T	ENST00000345530.3	-	26	3226	c.3111G>A	c.(3109-3111)caG>caA	p.Q1037Q	WDR35_ENST00000281405.4_Silent_p.Q1026Q|WDR35_ENST00000416055.2_Silent_p.Q510Q	NM_001006657.1	NP_001006658.1	Q9P2L0	WDR35_HUMAN	WD repeat domain 35	1037										breast(1)|endometrium(5)|kidney(8)|large_intestine(8)|lung(16)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGAGCTGCCTCTGTGCAAGTA	0.438													71	103					0	0	1	0	0	T	20130200	C	T	20130200	2	4	81	1	0	0	0	0	0	0	0	1	17349	912	32	2		2	WDR35	2	20130200	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	577185	20130200	223069173	1680	5296											
WDR35	57539	broad.mit.edu	37	2	20137546	20137546	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:20137546C>A	ENST00000345530.3	-	20	2373	c.2258G>T	c.(2257-2259)aGg>aTg	p.R753M	WDR35_ENST00000281405.4_Missense_Mutation_p.R742M|WDR35_ENST00000416055.2_Missense_Mutation_p.R318M	NM_001006657.1	NP_001006658.1	Q9P2L0	WDR35_HUMAN	WD repeat domain 35	753										breast(1)|endometrium(5)|kidney(8)|large_intestine(8)|lung(16)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTCTTCAAACCTGCCGAAGTA	0.448													29	99					1.7881e-09	2.16277e-09	1	1	0	A	20137546	C	A	20137546	3	1	81	1	0	0	0	0	1	0	0	0	17349	681	24	4	1323	4	WDR35	2	20137546	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	7346	20137546	223061827	1681	5297											
WDR35	57539	broad.mit.edu	37	2	20160376	20160376	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:20160376C>A	ENST00000345530.3	-	12	1343		c.e12-1		WDR35_ENST00000281405.4_Splice_Site|WDR35_ENST00000416055.2_Intron	NM_001006657.1	NP_001006658.1	Q9P2L0	WDR35_HUMAN	WD repeat domain 35											breast(1)|endometrium(5)|kidney(8)|large_intestine(8)|lung(16)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTAGTACAAACTGTGAACAAA	0.289													12	27					4.93089e-13	6.20298e-13	1	1	0	A	20160376	C	A	20160376	5	1	81	1	0	0	0	0	0	0	1	0	17349	579	20	4	2386	4	WDR35	2	20160376	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	22830	20160376	223038997	1682	5298											
APOB	338	broad.mit.edu	37	2	21231046	21231046	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:21231046C>T	ENST00000233242.1	-	26	8821	c.8694G>A	c.(8692-8694)ctG>ctA	p.L2898L		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	2898					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TAGAGAAGTCCAGTTTGGGGA	0.443													15	200					0	0	1	0	0	T	21231046	C	T	21231046	2	4	81	1	0	0	0	0	0	0	0	1	782	581	21	2		2	APOB	2	21231046	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1070670	21231046	221968327	1683	5299											
APOB	338	broad.mit.edu	37	2	21236129	21236129	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:21236129G>A	ENST00000233242.1	-	25	4246	c.4119C>T	c.(4117-4119)taC>taT	p.Y1373Y		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	1373					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TGCCACCACTGTAGGAGGCGG	0.512													8	190					0	0	1	0	0	A	21236129	G	A	21236129	2	1	81	1	0	0	0	0	0	0	0	1	782	1372	48	2		2	APOB	2	21236129	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	5083	21236129	221963244	1684	5300											
APOB	338	broad.mit.edu	37	2	21238060	21238060	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:21238060G>T	ENST00000233242.1	-	23	3708	c.3581C>A	c.(3580-3582)cCt>cAt	p.P1194H		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	1194					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	GAGATCCACAGGGAAATTGGA	0.408													33	64					1.62565e-12	2.03459e-12	1	1	0	T	21238060	G	T	21238060	3	4	81	1	0	0	0	0	1	0	0	0	782	1000	35	4	10138	4	APOB	2	21238060	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1931	21238060	221961313	1685	5301											
APOB	338	broad.mit.edu	37	2	21255269	21255269	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:21255269G>A	ENST00000233242.1	-	10	1436	c.1309C>T	c.(1309-1311)Cgc>Tgc	p.R437C	APOB_ENST00000399256.4_Missense_Mutation_p.R437C	NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	437	Vitellogenin.				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	GCTCGGCTGCGCTGATCCCTC	0.572													24	39					0	0	1	0	0	A	21255269	G	A	21255269	3	1	81	1	0	0	0	0	1	0	0	0	782	1087	38	1	12462	1	APOB	2	21255269	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	17209	21255269	221944104	1686	5302											
MFSD2B	388931	broad.mit.edu	37	2	24239760	24239760	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:24239760G>A	ENST00000338315.4	+	4	393	c.393G>A	c.(391-393)ctG>ctA	p.L131L	MFSD2B_ENST00000406420.3_Silent_p.L131L			A6NFX1	MFS2B_HUMAN	major facilitator superfamily domain containing 2B	131					transport	integral to membrane				cervix(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	10						ACTTCTTCCTGTGGTTCCTGC	0.662													4	37					0	0	1	0	0	A	24239760	G	A	24239760	2	1	81	1	0	0	0	0	0	0	0	1	9581	1364	48	2		2	MFSD2B	2	24239760	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2984491	24239760	218959613	1687	5303											
MFSD2B	388931	broad.mit.edu	37	2	24247137	24247137	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:24247137C>T	ENST00000338315.4	+	13	1486	c.1486C>T	c.(1486-1488)Cgg>Tgg	p.R496W	MFSD2B_ENST00000406420.3_Missense_Mutation_p.R496W			A6NFX1	MFS2B_HUMAN	major facilitator superfamily domain containing 2B	496					transport	integral to membrane				cervix(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	10						GCTGAGCCTTCGGAGGTAAGC	0.652													5	4					0	0	1	0	0	T	24247137	C	T	24247137	3	4	81	1	0	0	0	0	1	0	0	0	9581	875	31	1	1536	1	MFSD2B	2	24247137	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	7377	24247137	218952236	1688	5304											
C2orf44	80304	broad.mit.edu	37	2	24262192	24262192	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:24262192T>A	ENST00000295148.4	-	2	230	c.173A>T	c.(172-174)gAa>gTa	p.E58V	C2orf44_ENST00000406895.3_Missense_Mutation_p.E58V	NM_025203.2	NP_079479.1	Q9H6R7	CB044_HUMAN	chromosome 2 open reading frame 44	58							protein binding		C2orf44/ALK(2)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACAGACACATTCAAACTGTCC	0.522			T	ALK	NSCLC								17	43					0	0	1	0	0	A	24262192	T	A	24262192	3	1	81	1	0	0	0	0	1	0	0	0	2182	1783	62	5	2004	5	C2orf44	2	24262192	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	15055	24262192	218937181	1689	5305											
ITSN2	50618	broad.mit.edu	37	2	24494740	24494740	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:24494740G>A	ENST00000355123.4	-	19	2595	c.2152C>T	c.(2152-2154)Cga>Tga	p.R718*	ITSN2_ENST00000361999.3_Nonsense_Mutation_p.R691*|ITSN2_ENST00000406921.3_Nonsense_Mutation_p.R718*	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	718					endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					tcctggagtcgcttttgtttt	0.338													33	47					0	0	1	0	0	A	24494740	G	A	24494740	4	1	81	1	0	0	0	0	0	1	0	0	7971	1095	38	1	3080	1	ITSN2	2	24494740	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	232548	24494740	218704633	1690	5306											
CENPO	79172	broad.mit.edu	37	2	25038367	25038367	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:25038367C>A	ENST00000380834.2	+	5	761	c.336C>A	c.(334-336)ggC>ggA	p.G112G	CENPO_ENST00000473706.1_Splice_Site_p.G106G|CENPO_ENST00000260662.1_Splice_Site_p.G112G			Q9BU64	CENPO_HUMAN	centromere protein O	112					cell division|CenH3-containing nucleosome assembly at centromere|chromosome segregation|mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding			breast(2)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					TTGCCTCAGGCCTCAGTGGTA	0.473													46	58					2.81731e-22	3.69952e-22	1	1	0	A	25038367	C	A	25038367	5	1	81	1	0	0	0	0	0	0	1	0	3261	753	26	5	350	5	CENPO	2	25038367	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	543627	25038367	218161006	1691	5307											
ADCY3	109	broad.mit.edu	37	2	25050827	25050827	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:25050827G>T	ENST00000260600.5	-	13	3227	c.2376C>A	c.(2374-2376)ctC>ctA	p.L792L	ADCY3_ENST00000405392.1_Silent_p.L379L|ADCY3_ENST00000450524.1_5'UTR	NM_004036.3	NP_004027.2	O60266	ADCY3_HUMAN	adenylate cyclase 3	792					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|sensory perception of smell|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to plasma membrane	ATP binding|calmodulin binding|metal ion binding			NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					GCCAGGCATAGAGGTTGATGG	0.572											OREG0014498	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	16	27					3.45872e-05	3.85959e-05	1	1	0	T	25050827	G	T	25050827	2	4	81	1	0	0	0	0	0	0	0	1	294	929	33	4		4	ADCY3	2	25050827	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	12460	25050827	218148546	1692	5308											
ADCY3	109	broad.mit.edu	37	2	25057802	25057802	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:25057802C>T	ENST00000260600.5	-	9	2517	c.1666G>A	c.(1666-1668)Gac>Aac	p.D556N	ADCY3_ENST00000405392.1_Missense_Mutation_p.D189N	NM_004036.3	NP_004027.2	O60266	ADCY3_HUMAN	adenylate cyclase 3	556					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|sensory perception of smell|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to plasma membrane	ATP binding|calmodulin binding|metal ion binding			NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					GAGGGGTTGTCGGCCTGTGAG	0.617													9	8					0	0	1	0	0	T	25057802	C	T	25057802	3	4	81	1	0	0	0	0	1	0	0	0	294	884	31	1	1820	1	ADCY3	2	25057802	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	6975	25057802	218141571	1693	5309											
DNMT3A	1788	broad.mit.edu	37	2	25467441	25467441	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:25467441C>A	ENST00000264709.3	-	14	1972	c.1635G>T	c.(1633-1635)gaG>gaT	p.E545D	DNMT3A_ENST00000321117.5_Missense_Mutation_p.E545D|DNMT3A_ENST00000380746.4_Missense_Mutation_p.E356D|DNMT3A_ENST00000402667.1_Missense_Mutation_p.E322D	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	545	ADD.|Interaction with the PRC2/EED-EZH2 complex (By similarity).				regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACATGAGCACCTCACGGCCCC	0.632			"Mis, F, N, S"		AML								4	39					0.150653	0.152522	1	1	0	A	25467441	C	A	25467441	3	1	81	1	0	0	0	0	1	0	0	0	4703	680	24	4	1143	4	DNMT3A	2	25467441	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	409639	25467441	217731932	1694	5310											
DNMT3A	1788	broad.mit.edu	37	2	25497902	25497902	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:25497902G>A	ENST00000264709.3	-	6	884	c.547C>T	c.(547-549)Cgg>Tgg	p.R183W	DNMT3A_ENST00000321117.5_Missense_Mutation_p.R183W	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	183					regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGCATGGGCCGCTGACGGAGG	0.672			"Mis, F, N, S"		AML								9	7					0	0	1	0	0	A	25497902	G	A	25497902	3	1	81	1	0	0	0	0	1	0	0	0	4703	1086	38	1	2343	1	DNMT3A	2	25497902	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	30461	25497902	217701471	1695	5311											
ASXL2	55252	broad.mit.edu	37	2	25967097	25967097	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:25967097C>A	ENST00000435504.4	-	13	2402	c.2109G>T	c.(2107-2109)gaG>gaT	p.E703D	ASXL2_ENST00000272341.4_Missense_Mutation_p.E443D|ASXL2_ENST00000336112.4_Missense_Mutation_p.E675D|ASXL2_ENST00000404843.1_Missense_Mutation_p.E443D			Q76L83	ASXL2_HUMAN	additional sex combs like 2 (Drosophila)	703	Gly-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTTCACCACCCTCTCCTGGAC	0.637													26	98					1.77063e-15	2.25974e-15	1	1	0	A	25967097	C	A	25967097	3	1	81	1	0	0	0	0	1	0	0	0	1066	680	24	4	2202	4	ASXL2	2	25967097	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	469195	25967097	217232276	1696	5312											
HADHA	3030	broad.mit.edu	37	2	26424180	26424180	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:26424180G>A	ENST00000380649.3	-	13	1359	c.1230C>T	c.(1228-1230)gaC>gaT	p.D410D		NM_000182.4	NP_000173.2	P40939	ECHA_HUMAN	hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit	410					fatty acid beta-oxidation	fatty acid beta-oxidation multienzyme complex|mitochondrial nucleoid|nucleolus	3-hydroxyacyl-CoA dehydrogenase activity|acetyl-CoA C-acetyltransferase activity|coenzyme binding|enoyl-CoA hydratase activity|long-chain-3-hydroxyacyl-CoA dehydrogenase activity|protein binding			autonomic_ganglia(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(4)|skin(1)	30	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				NADH(DB00157)	TCTTCACTTTGTCATTCAATC	0.403													6	53					0	0	1	0	0	A	26424180	G	A	26424180	2	1	81	1	0	0	0	0	0	0	0	1	6984	1368	48	2		2	HADHA	2	26424180	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	457083	26424180	216775193	1697	5313											
GPR113	165082	broad.mit.edu	37	2	26532842	26532842	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:26532842G>T	ENST00000311519.1	-	13	3209	c.3210C>A	c.(3208-3210)tcC>tcA	p.S1070S	GPR113_ENST00000333478.6_Intron|GPR113_ENST00000459892.1_Intron|GPR113_ENST00000421160.2_Intron|GPR113_ENST00000541401.1_Intron	NM_001145168.1	NP_001138640.1	Q8IZF5	GP113_HUMAN	G protein-coupled receptor 113	1070					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGTCCTCTGAGGAGGGCCATG	0.552													17	19					2.23348e-06	2.55658e-06	1	1	0	T	26532842	G	T	26532842	2	4	81	1	0	0	0	0	0	0	0	1	6670	987	35	4		4	GPR113	2	26532842	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	108662	26532842	216666531	1698	5314											
GPR113	165082	broad.mit.edu	37	2	26534792	26534792	+	Missense_Mutation	SNP	C	C	T	rs147071305		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:26534792C>T	ENST00000333478.6	-	8	1789	c.1207G>A	c.(1207-1209)Gcc>Acc	p.A403T	GPR113_ENST00000459892.1_5'UTR|GPR113_ENST00000311519.1_Missense_Mutation_p.A602T|GPR113_ENST00000421160.2_Missense_Mutation_p.A533T|GPR113_ENST00000541401.1_Missense_Mutation_p.A205T	NM_153835.3	NP_722577.2	Q8IZF5	GP113_HUMAN	G protein-coupled receptor 113	602					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AAGCTGAAGGCGAAGGGGTGG	0.642													4	35					0	0	1	0	0	T	26534792	C	T	26534792	3	4	81	1	0	0	0	0	1	0	0	0	6670	768	27	1	1536	1	GPR113	2	26534792	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1950	26534792	216664581	1699	5315											
GPR113	165082	broad.mit.edu	37	2	26536733	26536733	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:26536733G>T	ENST00000333478.6	-	5	1156	c.574C>A	c.(574-576)Ctg>Atg	p.L192M	GPR113_ENST00000459892.1_5'UTR|GPR113_ENST00000311519.1_Missense_Mutation_p.L391M|GPR113_ENST00000421160.2_Missense_Mutation_p.L322M|GPR113_ENST00000541401.1_De_novo_Start_InFrame	NM_153835.3	NP_722577.2	Q8IZF5	GP113_HUMAN	G protein-coupled receptor 113	391					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGAACAGCCAGCACAAAGCAC	0.592													4	47					0.00024832	0.000269806	1	1	0	T	26536733	G	T	26536733	3	4	81	1	0	0	0	0	1	0	0	0	6670	962	34	4	2181	4	GPR113	2	26536733	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1941	26536733	216662640	1700	5316											
OTOF	9381	broad.mit.edu	37	2	26688593	26688593	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:26688593G>A	ENST00000272371.2	-	38	4872	c.4746C>T	c.(4744-4746)aaC>aaT	p.N1582N	OTOF_ENST00000403946.3_Silent_p.N1582N|OTOF_ENST00000338581.6_Silent_p.N815N|OTOF_ENST00000402415.3_Silent_p.N892N|OTOF_ENST00000339598.3_Silent_p.N815N	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	1582					cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGTAGAAGCGGTTCTCCAGGT	0.617													16	34					0	0	1	0	0	A	26688593	G	A	26688593	2	1	81	1	0	0	0	0	0	0	0	1	11350	1252	44	2		2	OTOF	2	26688593	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	151860	26688593	216510780	1701	5317											
OTOF	9381	broad.mit.edu	37	2	26739295	26739295	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:26739295C>A	ENST00000272371.2	-	5	626	c.500G>T	c.(499-501)aGc>aTc	p.S167I	OTOF_ENST00000403946.3_Missense_Mutation_p.S167I	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	167					cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCTCCGGAAGCTCTTCTCTCC	0.637													44	60					8.00217e-19	1.04002e-18	1	1	0	A	26739295	C	A	26739295	3	1	81	1	0	0	0	0	1	0	0	0	11350	797	28	4	5990	4	OTOF	2	26739295	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	50702	26739295	216460078	1702	5318											
AGBL5	60509	broad.mit.edu	37	2	27275942	27275942	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:27275942C>T	ENST00000360131.4	+	2	275	c.116C>T	c.(115-117)gCg>gTg	p.A39V	AGBL5_ENST00000323064.8_Missense_Mutation_p.A39V	NM_021831.5	NP_068603.4	Q8NDL9	CBPC5_HUMAN	ATP/GTP binding protein-like 5	39				GAS -> CLL (in Ref. 5; AAI31499).	protein branching point deglutamylation|proteolysis	cytosol|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	28	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGAGGTGGGGCGTCAGCCCTG	0.542													26	30					0	0	1	0	0	T	27275942	C	T	27275942	3	4	81	1	0	0	0	0	1	0	0	0	375	768	27	1	118	1	AGBL5	2	27275942	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	536647	27275942	215923431	1703	5319											
AGBL5	60509	broad.mit.edu	37	2	27277665	27277665	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:27277665C>T	ENST00000360131.4	+	5	878	c.719C>T	c.(718-720)gCa>gTa	p.A240V	AGBL5_ENST00000323064.8_Missense_Mutation_p.A240V	NM_021831.5	NP_068603.4	Q8NDL9	CBPC5_HUMAN	ATP/GTP binding protein-like 5	240					protein branching point deglutamylation|proteolysis	cytosol|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	28	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTCCGTTTCGCAGGCAAGAGG	0.488													11	86					0	0	1	0	0	T	27277665	C	T	27277665	3	4	81	1	0	0	0	0	1	0	0	0	375	710	25	2	733	2	AGBL5	2	27277665	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1723	27277665	215921708	1704	5320											
AGBL5	60509	broad.mit.edu	37	2	27293046	27293046	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:27293046A>C	ENST00000360131.4	+	15	2735	c.2576A>C	c.(2575-2577)aAt>aCt	p.N859T		NM_021831.5	NP_068603.4	Q8NDL9	CBPC5_HUMAN	ATP/GTP binding protein-like 5	859					protein branching point deglutamylation|proteolysis	cytosol|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	28	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCATCCTGGAATTGTTACAGC	0.547													30	38					0	0	1	0	0	C	27293046	A	C	27293046	3	2	81	1	0	0	0	0	1	0	0	0	375	101	4	4	2695	4	AGBL5	2	27293046	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	15381	27293046	215906327	1705	5321											
EMILIN1	11117	broad.mit.edu	37	2	27306234	27306234	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:27306234G>A	ENST00000380320.4	+	4	2294	c.1795G>A	c.(1795-1797)Gtg>Atg	p.V599M		NM_007046.3	NP_008977	Q9Y6C2	EMIL1_HUMAN	elastin microfibril interfacer 1	599					cell adhesion	collagen				breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(1)|lung(14)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	26	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCGGGATGGTGTGGAGCGCTG	0.697													15	39					0	0	1	0	0	A	27306234	G	A	27306234	3	1	81	1	0	0	0	0	1	0	0	0	5121	1377	48	2	1809	2	EMILIN1	2	27306234	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	13188	27306234	215893139	1706	5322											
CGREF1	10669	broad.mit.edu	37	2	27327221	27327221	+	Missense_Mutation	SNP	G	G	A	rs112618911	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:27327221G>A	ENST00000402394.1	-	2	282	c.14C>T	c.(13-15)aCg>aTg	p.T5M	CGREF1_ENST00000260595.5_Missense_Mutation_p.T5M|CGREF1_ENST00000404694.3_Missense_Mutation_p.T127M|CGREF1_ENST00000402550.1_Missense_Mutation_p.T5M|CGREF1_ENST00000405600.1_Missense_Mutation_p.T5M|CGREF1_ENST00000312734.4_Missense_Mutation_p.T5M|CGREF1_ENST00000452318.2_Intron	NM_006569.5	NP_006560.3	Q99674	CGRE1_HUMAN	cell growth regulator with EF-hand domain 1	5					cell adhesion|cell cycle arrest|negative regulation of cell proliferation|response to stress	extracellular region	calcium ion binding			kidney(1)|lung(4)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CACTGTCATCGTCAAAGGTAA	0.567													10	9					0	0	1	0	0	A	27327221	G	A	27327221	3	1	81	1	0	0	0	0	1	0	0	0	3327	1145	40	1	1154	1	CGREF1	2	27327221	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	20987	27327221	215872152	1707	5323											
ABHD1	84696	broad.mit.edu	37	2	27351333	27351333	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:27351333C>T	ENST00000316470.4	+	2	253	c.139C>T	c.(139-141)Cag>Tag	p.Q47*		NM_032604.3	NP_115993	Q96SE0	ABHD1_HUMAN	abhydrolase domain containing 1	47						integral to membrane	carboxylesterase activity			endometrium(1)|kidney(1)|lung(3)	5	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGCTGGGCCGCAGTTTCTGGC	0.567													7	72					0	0	1	0	0	T	27351333	C	T	27351333	4	4	81	1	0	0	0	0	0	1	0	0	73	711	25	2	145	2	ABHD1	2	27351333	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	24112	27351333	215848040	1708	5324											
PREB	10113	broad.mit.edu	37	2	27355486	27355486	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:27355486C>T	ENST00000260643.2	-	5	990	c.737G>A	c.(736-738)cGc>cAc	p.R246H	PREB_ENST00000406567.3_Missense_Mutation_p.R246H	NM_013388.4	NP_037520.1	Q9HCU5	PREB_HUMAN	prolactin regulatory element binding	246					COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane|nucleus	DNA binding|guanyl-nucleotide exchange factor activity|protein binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGCCTGGTAGCGGTAAGGTGT	0.587													11	23					0	0	1	0	0	T	27355486	C	T	27355486	3	4	81	1	0	0	0	0	1	0	0	0	12522	768	27	1	536	1	PREB	2	27355486	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	4153	27355486	215843887	1709	5325											
CAD	790	broad.mit.edu	37	2	27454415	27454415	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:27454415C>T	ENST00000264705.4	+	16	2529	c.2367C>T	c.(2365-2367)ggC>ggT	p.G789G	CAD_ENST00000403525.1_Silent_p.G726G|CAD_ENST00000464159.1_3'UTR	NM_004341.3	NP_004332.2	P27708	PYR1_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	789	CPSase (Carbamoyl-phosphate synthase).|CPSase A.				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	ACTGTGTGGGCTTTGATCACA	0.532													4	42					0	0	1	0	0	T	27454415	C	T	27454415	2	4	81	1	0	0	0	0	0	0	0	1	2583	784	28	2		2	CAD	2	27454415	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	98929	27454415	215744958	1710	5326											
CAD	790	broad.mit.edu	37	2	27456617	27456617	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:27456617G>A	ENST00000264705.4	+	21	3502	c.3340G>A	c.(3340-3342)Gca>Aca	p.A1114T	CAD_ENST00000403525.1_Missense_Mutation_p.A1051T	NM_004341.3	NP_004332.2	P27708	PYR1_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	1114	ATP-grasp 2.|CPSase (Carbamoyl-phosphate synthase).|CPSase B.				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	CCTGAGCAGCGCAGCAGCCGT	0.607													23	35					0	0	1	0	0	A	27456617	G	A	27456617	3	1	81	1	0	0	0	0	1	0	0	0	2583	1087	38	1	3422	1	CAD	2	27456617	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2202	27456617	215742756	1711	5327											
CAD	790	broad.mit.edu	37	2	27461971	27461971	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:27461971G>T	ENST00000264705.4	+	32	5286	c.5124G>T	c.(5122-5124)gaG>gaT	p.E1708D	CAD_ENST00000403525.1_Missense_Mutation_p.E1645D	NM_004341.3	NP_004332.2	P27708	PYR1_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	1708	DHOase (dihydroorotase).				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	CAGGGTTAGAGACCATGCTGC	0.602													5	55					0.0215528	0.0221217	1	1	0	T	27461971	G	T	27461971	3	4	81	1	0	0	0	0	1	0	0	0	2583	933	33	4	5250	4	CAD	2	27461971	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	5354	27461971	215737402	1712	5328											
MPV17	4358	broad.mit.edu	37	2	27545327	27545327	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:27545327C>T	ENST00000380044.1	-	2	113	c.58G>A	c.(58-60)Gtc>Atc	p.V20I	MPV17_ENST00000402310.1_Missense_Mutation_p.V20I|MPV17_ENST00000405076.1_Missense_Mutation_p.V20I|MPV17_ENST00000403262.2_Missense_Mutation_p.V20I|MPV17_ENST00000233545.2_Missense_Mutation_p.V20I|MPV17_ENST00000357186.6_Intron|MPV17_ENST00000405983.1_Missense_Mutation_p.V20I|MPV17_ENST00000402722.1_Missense_Mutation_p.V20I|MPV17_ENST00000399052.4_Missense_Mutation_p.V20I	NM_002437.4	NP_002428.1	P39210	MPV17_HUMAN	MpV17 mitochondrial inner membrane protein	20					cellular response to reactive oxygen species|glomerular basement membrane development|homeostatic process|inner ear development|mitochondrial genome maintenance|regulation of reactive oxygen species metabolic process	integral to peroxisomal membrane|mitochondrial inner membrane				lung(4)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCTGTCAGGACCTGTACTTTC	0.627													27	46					0	0	1	0	0	T	27545327	C	T	27545327	3	4	81	1	0	0	0	0	1	0	0	0	9794	507	18	2	500	2	MPV17	2	27545327	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	83356	27545327	215654046	1713	5329											
SNX17	9784	broad.mit.edu	37	2	27597589	27597589	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:27597589G>T	ENST00000233575.2	+	8	867	c.645G>T	c.(643-645)atG>atT	p.M215I	SNX17_ENST00000537606.1_Missense_Mutation_p.M190I|SNX17_ENST00000542478.1_Start_Codon_SNP_p.M1I|SNX17_ENST00000543024.1_Start_Codon_SNP_p.M1I	NM_001267059.1|NM_001267061.1|NM_014748.3	NP_001253988.1|NP_001253990.1|NP_055563.1	Q15036	SNX17_HUMAN	sorting nexin 17	215					cell communication|endosome transport|intracellular protein transport|regulation of endocytosis|signal transduction	cytoplasmic vesicle membrane|cytosol|early endosome|Golgi apparatus	low-density lipoprotein particle receptor binding|phosphatidylinositol binding|protein C-terminus binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACGATGTCATGGAGAACCGGG	0.522													7	87					5.68852e-11	7.00816e-11	1	1	0	T	27597589	G	T	27597589	3	4	81	1	0	0	0	0	1	0	0	0	14942	1348	47	5	675	5	SNX17	2	27597589	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	52262	27597589	215601784	1714	5330											
SNX17	9784	broad.mit.edu	37	2	27599026	27599026	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:27599026G>T	ENST00000233575.2	+	12	1380	c.1158G>T	c.(1156-1158)aaG>aaT	p.K386N	SNX17_ENST00000537606.1_Missense_Mutation_p.K361N|SNX17_ENST00000542478.1_Missense_Mutation_p.K172N|SNX17_ENST00000543024.1_Missense_Mutation_p.K172N	NM_001267059.1|NM_001267061.1|NM_014748.3	NP_001253988.1|NP_001253990.1|NP_055563.1	Q15036	SNX17_HUMAN	sorting nexin 17	386					cell communication|endosome transport|intracellular protein transport|regulation of endocytosis|signal transduction	cytoplasmic vesicle membrane|cytosol|early endosome|Golgi apparatus	low-density lipoprotein particle receptor binding|phosphatidylinositol binding|protein C-terminus binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGATGGTGAAGAAATCTGGCG	0.512													11	102					4.68919e-08	5.54405e-08	1	1	0	T	27599026	G	T	27599026	3	4	81	1	0	0	0	0	1	0	0	0	14942	933	33	4	1204	4	SNX17	2	27599026	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1437	27599026	215600347	1715	5331											
NRBP1	29959	broad.mit.edu	37	2	27663750	27663750	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:27663750C>T	ENST00000233557.3	+	15	2104	c.1272C>T	c.(1270-1272)gtC>gtT	p.V424V	NRBP1_ENST00000379852.3_Silent_p.V424V|NRBP1_ENST00000379863.3_Silent_p.V432V			Q9UHY1	NRBP_HUMAN	nuclear receptor binding protein 1	424					ER to Golgi vesicle-mediated transport|gene expression|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cell cortex|endomembrane system|lamellipodium|membrane|nucleoplasm	ATP binding|protein homodimerization activity|protein kinase activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	Acute lymphoblastic leukemia(172;0.155)					CATCACCTGTCGTGCCCCCCT	0.602													21	32					0	0	1	0	0	T	27663750	C	T	27663750	2	4	81	1	0	0	0	0	0	0	0	1	10690	871	31	1		1	NRBP1	2	27663750	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	64724	27663750	215535623	1716	5332											
KRTCAP3	200634	broad.mit.edu	37	2	27666108	27666108	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:27666108G>A	ENST00000543753.1	+	4	488	c.441G>A	c.(439-441)ccG>ccA	p.P147P	KRTCAP3_ENST00000288873.3_Silent_p.P147P|KRTCAP3_ENST00000407293.1_Silent_p.P129P	NM_001168364.1	NP_001161836.1	Q53RY4	KCP3_HUMAN	keratinocyte associated protein 3	147						integral to membrane				large_intestine(1)|lung(2)	3	Acute lymphoblastic leukemia(172;0.155)					ATGAGGGGCCGGGACATACTG	0.542													27	33					0	0	1	0	0	A	27666108	G	A	27666108	2	1	81	1	0	0	0	0	0	0	0	1	8618	1103	39	1		1	KRTCAP3	2	27666108	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2358	27666108	215533265	1717	5333											
IFT172	26160	broad.mit.edu	37	2	27676877	27676877	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:27676877C>A	ENST00000260570.3	-	33	3786	c.3683G>T	c.(3682-3684)aGa>aTa	p.R1228I		NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN	intraflagellar transport 172 homolog (Chlamydomonas)	1228					cilium assembly	cilium	binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					CAGGCCTGGTCTCTGGGCCCG	0.617													22	55					9.57634e-11	1.17731e-10	1	1	0	A	27676877	C	A	27676877	3	1	81	1	0	0	0	0	1	0	0	0	7601	913	32	4	1630	4	IFT172	2	27676877	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	10769	27676877	215522496	1718	5334											
C2orf16	84226	broad.mit.edu	37	2	27799629	27799629	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:27799629G>A	ENST00000408964.2	+	1	241	c.190G>A	c.(190-192)Gag>Aag	p.E64K		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	64										breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					GAAATCTTTGGAGTTTACTGT	0.413													30	35					0	0	1	0	0	A	27799629	G	A	27799629	3	1	81	1	0	0	0	0	1	0	0	0	2171	1175	41	2	192	2	C2orf16	2	27799629	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	122752	27799629	215399744	1719	5335											
C2orf16	84226	broad.mit.edu	37	2	27799956	27799956	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:27799956G>A	ENST00000408964.2	+	1	568	c.517G>A	c.(517-519)Gat>Aat	p.D173N		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	173										breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					TAAAGGCATAGATACTGTAGA	0.403													28	56					0	0	1	0	0	A	27799956	G	A	27799956	3	1	81	1	0	0	0	0	1	0	0	0	2171	942	33	2	519	2	C2orf16	2	27799956	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	327	27799956	215399417	1720	5336											
C2orf16	84226	broad.mit.edu	37	2	27801251	27801251	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:27801251G>T	ENST00000408964.2	+	1	1863	c.1812G>T	c.(1810-1812)gaG>gaT	p.E604D		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	604										breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					TAAAATCTGAGGAGTTAGCAC	0.413													19	28					6.49762e-13	8.15126e-13	1	1	0	T	27801251	G	T	27801251	3	4	81	1	0	0	0	0	1	0	0	0	2171	991	35	4	1814	4	C2orf16	2	27801251	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1295	27801251	215398122	1721	5337											
C2orf16	84226	broad.mit.edu	37	2	27801488	27801488	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:27801488G>T	ENST00000408964.2	+	1	2100	c.2049G>T	c.(2047-2049)caG>caT	p.Q683H		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	683										breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					AAGGGCTTCAGGCTGTGAAAT	0.413													29	72					7.53681e-25	9.9604e-25	1	1	0	T	27801488	G	T	27801488	3	4	81	1	0	0	0	0	1	0	0	0	2171	991	35	4	2051	4	C2orf16	2	27801488	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	237	27801488	215397885	1722	5338											
C2orf16	84226	broad.mit.edu	37	2	27802252	27802252	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:27802252C>A	ENST00000408964.2	+	1	2864	c.2813C>A	c.(2812-2814)cCt>cAt	p.P938H		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	938										breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					CTGATGGAACCTTCCCAGAGC	0.403													5	39					1.23904e-05	1.39156e-05	1	1	0	A	27802252	C	A	27802252	3	1	81	1	0	0	0	0	1	0	0	0	2171	681	24	4	2815	4	C2orf16	2	27802252	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	764	27802252	215397121	1723	5339											
C2orf16	84226	broad.mit.edu	37	2	27804294	27804294	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:27804294G>A	ENST00000408964.2	+	1	4906	c.4855G>A	c.(4855-4857)Gag>Aag	p.E1619K		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	1619	27 X 8 AA approximative tandem repeat of P-S-E-R-S-H-H-S.|Arg-rich.									breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					CAGTCCCCCCGAGAGGAGCTG	0.567													7	123					0	0	1	0	0	A	27804294	G	A	27804294	3	1	81	1	0	0	0	0	1	0	0	0	2171	1059	37	1	4857	1	C2orf16	2	27804294	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2042	27804294	215395079	1724	5340											
ZNF512	84450	broad.mit.edu	37	2	27844111	27844111	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:27844111A>G	ENST00000355467.4	+	14	1570	c.1487A>G	c.(1486-1488)cAg>cGg	p.Q496R	ZNF512_ENST00000556601.1_Missense_Mutation_p.Q365R|ZNF512_ENST00000416005.2_Missense_Mutation_p.Q467R|ZNF512_ENST00000413371.2_Missense_Mutation_p.Q419R|ZNF512_ENST00000379717.1_Missense_Mutation_p.Q495R|RP11-158I13.2_ENST00000505973.1_RNA	NM_001271287.1|NM_001271288.1|NM_001271289.1|NM_001271318.1|NM_032434.3	NP_001258216.1|NP_001258217.1|NP_001258218.1|NP_001258247.1|NP_115810.2	Q96ME7	ZN512_HUMAN	zinc finger protein 512	496					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)					AAGCGGAGGCAGCAGCACAGG	0.512													16	60					0	0	1	0	0	G	27844111	A	G	27844111	3	3	81	1	0	0	0	0	1	0	0	0	18013	188	7	3	1541	3	ZNF512	2	27844111	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	39817	27844111	215355262	1725	5341											
GPN1	11321	broad.mit.edu	37	2	27861839	27861839	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:27861839G>A	ENST00000264718.3	+	9	721	c.700G>A	c.(700-702)Gtc>Atc	p.V234I	GPN1_ENST00000610189.1_Missense_Mutation_p.V220I|GPN1_ENST00000503738.1_Missense_Mutation_p.V125I|GPN1_ENST00000461249.1_3'UTR|GPN1_ENST00000515877.1_Missense_Mutation_p.V141I|GPN1_ENST00000424214.1_Missense_Mutation_p.V141I|GPN1_ENST00000458167.2_Missense_Mutation_p.V125I|GPN1_ENST00000407583.3_Missense_Mutation_p.V208I			Q9HCN4	GPN1_HUMAN	GPN-loop GTPase 1	220						cytoplasm	GTP binding|nucleoside-triphosphatase activity|protein binding			endometrium(1)|large_intestine(1)|lung(12)	14						GACTACATACGTCAGTAACCT	0.458													33	37					0	0	1	0	0	A	27861839	G	A	27861839	3	1	81	1	0	0	0	0	1	0	0	0	6657	1145	40	1	817	1	GPN1	2	27861839	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	17728	27861839	215337534	1726	5342											
GPN1	11321	broad.mit.edu	37	2	27861864	27861864	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:27861864G>A	ENST00000264718.3	+	9	746	c.725G>A	c.(724-726)aGc>aAc	p.S242N	GPN1_ENST00000610189.1_Missense_Mutation_p.S228N|GPN1_ENST00000503738.1_Missense_Mutation_p.S133N|GPN1_ENST00000461249.1_3'UTR|GPN1_ENST00000515877.1_Missense_Mutation_p.S149N|GPN1_ENST00000424214.1_Missense_Mutation_p.S149N|GPN1_ENST00000458167.2_Missense_Mutation_p.S133N|GPN1_ENST00000407583.3_Missense_Mutation_p.S216N			Q9HCN4	GPN1_HUMAN	GPN-loop GTPase 1	228						cytoplasm	GTP binding|nucleoside-triphosphatase activity|protein binding			endometrium(1)|large_intestine(1)|lung(12)	14						CGTTCAATGAGCCTGGTGTTA	0.453													27	51					0	0	1	0	0	A	27861864	G	A	27861864	3	1	81	1	0	0	0	0	1	0	0	0	6657	971	34	2	842	2	GPN1	2	27861864	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	25	27861864	215337509	1727	5343											
SLC4A1AP	22950	broad.mit.edu	37	2	27887225	27887225	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:27887225G>A	ENST00000326019.6	+	1	888	c.606G>A	c.(604-606)gaG>gaA	p.E202E		NM_018158.2	NP_060628.2	Q9BWU0	NADAP_HUMAN	solute carrier family 4 (anion exchanger), member 1, adaptor protein	202	FHA.					cytoplasm|nucleus	double-stranded RNA binding|protein binding			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(172;0.155)					TGTGCCTGGAGCACCCTTCGG	0.622													12	21					0	0	1	0	0	A	27887225	G	A	27887225	2	1	81	1	0	0	0	0	0	0	0	1	14708	962	34	2		2	SLC4A1AP	2	27887225	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	25361	27887225	215312148	1728	5344											
SLC4A1AP	22950	broad.mit.edu	37	2	27887975	27887975	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:27887975G>T	ENST00000326019.6	+	2	1116	c.834G>T	c.(832-834)gaG>gaT	p.E278D		NM_018158.2	NP_060628.2	Q9BWU0	NADAP_HUMAN	solute carrier family 4 (anion exchanger), member 1, adaptor protein	278						cytoplasm|nucleus	double-stranded RNA binding|protein binding			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(172;0.155)					AGGGACCAGAGGAAGACCGAG	0.453													25	60					3.01185e-09	3.62286e-09	1	1	0	T	27887975	G	T	27887975	3	4	81	1	0	0	0	0	1	0	0	0	14708	991	35	4	840	4	SLC4A1AP	2	27887975	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	750	27887975	215311398	1729	5345											
RBKS	64080	broad.mit.edu	37	2	28050435	28050435	+	Splice_Site	SNP	G	G	A	rs143709910		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:28050435G>A	ENST00000302188.3	-	7	1546	c.794C>T	c.(793-795)aCg>aTg	p.T265M	RBKS_ENST00000444339.2_Splice_Site_p.T265M	NM_022128.1	NP_071411.1	Q9H477	RBSK_HUMAN	ribokinase	265					D-ribose metabolic process		ATP binding|ribokinase activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	7	Acute lymphoblastic leukemia(172;0.155)					AAAACTTACCGTGGTATCCAC	0.383													27	43					0	0	1	0	0	A	28050435	G	A	28050435	5	1	81	1	0	0	0	0	0	0	1	0	13160	1159	40	1	182	1	RBKS	2	28050435	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	162460	28050435	215148938	1730	5346											
PLB1	151056	broad.mit.edu	37	2	28762004	28762004	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:28762004G>T	ENST00000422425.2	+	11	734	c.690G>T	c.(688-690)gaG>gaT	p.E230D	PLB1_ENST00000327757.5_Missense_Mutation_p.E219D	NM_001170585.1	NP_001164056.1	Q6P1J6	PLB1_HUMAN	phospholipase B1	219	4 X 308-326 AA approximate repeats.				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					ACCTCTCTGAGGTTGCAGAGG	0.562													6	54					0.248553	0.249876	1	1	0	T	28762004	G	T	28762004	3	4	81	1	0	0	0	0	1	0	0	0	12072	991	35	4	732	4	PLB1	2	28762004	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	711569	28762004	214437369	1731	5347											
PLB1	151056	broad.mit.edu	37	2	28785917	28785917	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:28785917T>C	ENST00000422425.2	+	18	1234	c.1190T>C	c.(1189-1191)cTg>cCg	p.L397P	PLB1_ENST00000329020.6_Missense_Mutation_p.L74P|PLB1_ENST00000327757.5_Missense_Mutation_p.L386P	NM_001170585.1	NP_001164056.1	Q6P1J6	PLB1_HUMAN	phospholipase B1	386	4 X 308-326 AA approximate repeats.				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					GTTCATAGGCTGAAGCCGGCT	0.483													7	54					0	0	1	0	0	C	28785917	T	C	28785917	3	2	81	1	0	0	0	0	1	0	0	0	12072	1580	55	3	1260	3	PLB1	2	28785917	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	23913	28785917	214413456	1732	5348											
PLB1	151056	broad.mit.edu	37	2	28847958	28847958	+	Nonsense_Mutation	SNP	C	C	T	rs145118329		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:28847958C>T	ENST00000422425.2	+	49	3573	c.3529C>T	c.(3529-3531)Cga>Tga	p.R1177*	PLB1_ENST00000541605.1_Nonsense_Mutation_p.R153*|PLB1_ENST00000327757.5_Nonsense_Mutation_p.R1188*	NM_001170585.1	NP_001164056.1	Q6P1J6	PLB1_HUMAN	phospholipase B1	1188	4 X 308-326 AA approximate repeats.				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					CCTGGTAGAGCGAATGAAAAA	0.637													28	39					0	0	1	0	0	T	28847958	C	T	28847958	4	4	81	1	0	0	0	0	0	1	0	0	12072	760	27	1	3793	1	PLB1	2	28847958	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	62041	28847958	214351415	1733	5349											
TRMT61B	55006	broad.mit.edu	37	2	29084149	29084149	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:29084149A>G	ENST00000306108.5	-	3	851	c.828T>C	c.(826-828)agT>agC	p.S276S	TRMT61B_ENST00000484060.1_5'UTR	NM_017910.3	NP_060380.3	Q9BVS5	TR61B_HUMAN	tRNA methyltransferase 61 homolog B (S. cerevisiae)	276							tRNA (adenine-N1-)-methyltransferase activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(8)	13						GTACCTCAAAACTTATGACTC	0.318													17	25					0	0	1	0	0	G	29084149	A	G	29084149	2	3	81	1	0	0	0	0	0	0	0	1	16631	40	2	3		3	TRMT61B	2	29084149	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	236191	29084149	214115224	1734	5350											
C2orf71	388939	broad.mit.edu	37	2	29287763	29287763	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:29287763G>A	ENST00000331664.5	-	2	3838	c.3839C>T	c.(3838-3840)gCg>gTg	p.A1280V		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	1280					response to stimulus|visual perception	photoreceptor outer segment				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						CTGGGGCTGCGCCTCTGGCTG	0.657													10	17					0	0	1	0	0	A	29287763	G	A	29287763	3	1	81	1	0	0	0	0	1	0	0	0	2205	1087	38	1	31	1	C2orf71	2	29287763	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	203614	29287763	213911610	1735	5351											
C2orf71	388939	broad.mit.edu	37	2	29293713	29293713	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:29293713T>C	ENST00000331664.5	-	1	3414	c.3415A>G	c.(3415-3417)Aca>Gca	p.T1139A		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	1139					response to stimulus|visual perception	photoreceptor outer segment				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						GGGTGGGCTGTTGAGAGTGGC	0.577													17	29					0	0	1	0	0	C	29293713	T	C	29293713	3	2	81	1	0	0	0	0	1	0	0	0	2205	1725	60	3	459	3	C2orf71	2	29293713	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	5950	29293713	213905660	1736	5352											
C2orf71	388939	broad.mit.edu	37	2	29294474	29294474	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:29294474G>T	ENST00000331664.5	-	1	2653	c.2654C>A	c.(2653-2655)tCt>tAt	p.S885Y		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	885					response to stimulus|visual perception	photoreceptor outer segment				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						GGGGCTCACAGAGGCCCTCAG	0.662													7	51					2.0095e-06	2.30238e-06	1	1	0	T	29294474	G	T	29294474	3	4	81	1	0	0	0	0	1	0	0	0	2205	942	33	4	1220	4	C2orf71	2	29294474	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	761	29294474	213904899	1737	5353											
C2orf71	388939	broad.mit.edu	37	2	29296260	29296260	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:29296260C>T	ENST00000331664.5	-	1	867	c.868G>A	c.(868-870)Ggc>Agc	p.G290S		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	290					response to stimulus|visual perception	photoreceptor outer segment				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						AGGAAGCTGCCGGTGAGCGAG	0.557													34	59					0	0	1	0	0	T	29296260	C	T	29296260	3	4	81	1	0	0	0	0	1	0	0	0	2205	652	23	1	3006	1	C2orf71	2	29296260	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1786	29296260	213903113	1738	5354											
CLIP4	79745	broad.mit.edu	37	2	29383270	29383270	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:29383270G>T	ENST00000320081.5	+	12	1726	c.1471G>T	c.(1471-1473)Gtg>Ttg	p.V491L	CLIP4_ENST00000401617.2_Missense_Mutation_p.V384L|CLIP4_ENST00000401605.1_Missense_Mutation_p.V491L|CLIP4_ENST00000404424.1_Missense_Mutation_p.V491L	NM_024692.4	NP_078968.3	Q8N3C7	CLIP4_HUMAN	CAP-GLY domain containing linker protein family, member 4	491										endometrium(4)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(1)	26	Acute lymphoblastic leukemia(172;0.155)					CGGAGAGAGAGTGTTAGTGGT	0.468													6	82					1.06961e-07	1.25755e-07	1	1	0	T	29383270	G	T	29383270	3	4	81	1	0	0	0	0	1	0	0	0	3558	1029	36	4	1513	4	CLIP4	2	29383270	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	87010	29383270	213816103	1739	5355											
CLIP4	79745	broad.mit.edu	37	2	29386732	29386732	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:29386732G>T	ENST00000320081.5	+	13	1825	c.1570G>T	c.(1570-1572)Ggc>Tgc	p.G524C	CLIP4_ENST00000401617.2_Missense_Mutation_p.G417C|CLIP4_ENST00000401605.1_Missense_Mutation_p.G524C|CLIP4_ENST00000404424.1_Missense_Mutation_p.G524C	NM_024692.4	NP_078968.3	Q8N3C7	CLIP4_HUMAN	CAP-GLY domain containing linker protein family, member 4	524	CAP-Gly 2.									endometrium(4)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(1)	26	Acute lymphoblastic leukemia(172;0.155)					AAAACCCCATGGCAAGAATGA	0.393													33	67					4.65686e-17	5.99349e-17	1	1	0	T	29386732	G	T	29386732	3	4	81	1	0	0	0	0	1	0	0	0	3558	1348	47	5	1616	5	CLIP4	2	29386732	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	3462	29386732	213812641	1740	5356											
ALK	238	broad.mit.edu	37	2	29519866	29519866	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:29519866C>T	ENST00000389048.3	-	9	2611	c.1705G>A	c.(1705-1707)Gtg>Atg	p.V569M	ALK_ENST00000498037.1_5'UTR|ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	569	MAM 2.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	TTGTTCTCCACTAGCACCAAG	0.557			"T, Mis, A"	"NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"	"ALCL, NSCLC, Neuroblastoma"	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				11	38					0	0	1	0	0	T	29519866	C	T	29519866	3	4	81	1	0	0	0	0	1	0	0	0	521	565	20	2	3241	2	ALK	2	29519866	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	133134	29519866	213679507	1741	5357											
ALK	238	broad.mit.edu	37	2	29754876	29754876	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:29754876C>T	ENST00000389048.3	-	4	1965	c.1059G>A	c.(1057-1059)agG>agA	p.R353R	ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	353	MAM 1.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	GCTGCAGGTGCCTGTGCACCG	0.592			"T, Mis, A"	"NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"	"ALCL, NSCLC, Neuroblastoma"	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				14	39					0	0	1	0	0	T	29754876	C	T	29754876	2	4	81	1	0	0	0	0	0	0	0	1	521	738	26	2		2	ALK	2	29754876	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	235010	29754876	213444497	1742	5358											
YPEL5	51646	broad.mit.edu	37	2	30379582	30379582	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:30379582C>T	ENST00000379520.3	+	4	569	c.65C>T	c.(64-66)aCg>aTg	p.T22M	YPEL5_ENST00000261353.4_Missense_Mutation_p.T22M|YPEL5_ENST00000402003.3_Missense_Mutation_p.T22M|YPEL5_ENST00000402708.1_Missense_Mutation_p.T22M|YPEL5_ENST00000379519.3_Missense_Mutation_p.T22M|YPEL5_ENST00000495673.1_3'UTR	NM_001127401.1	NP_001120873.1	P62699	YPEL5_HUMAN	yippee-like 5 (Drosophila)	22							peptide-methionine-(S)-S-oxide reductase activity			NS(1)|endometrium(1)|kidney(1)|lung(3)|prostate(1)	7	Acute lymphoblastic leukemia(172;0.155)					AACTGTGATACGATCCTGACC	0.428													62	69					0	0	1	0	0	T	30379582	C	T	30379582	3	4	81	1	0	0	0	0	1	0	0	0	17553	536	19	1	67	1	YPEL5	2	30379582	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	624706	30379582	212819791	1743	5359											
LCLAT1	253558	broad.mit.edu	37	2	30863415	30863415	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:30863415A>T	ENST00000309052.4	+	7	1384	c.1175A>T	c.(1174-1176)gAg>gTg	p.E392V	LCLAT1_ENST00000540623.1_Missense_Mutation_p.E354V|LCLAT1_ENST00000379509.3_Missense_Mutation_p.E354V|LCLAT1_ENST00000491680.2_3'UTR	NM_182551.3	NP_872357.2	Q6UWP7	LCLT1_HUMAN	lysocardiolipin acyltransferase 1	392					multicellular organismal development|phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)	19						GGTGGACTGGAGATCATAGAA	0.343													5	105					0	0	1	0	0	T	30863415	A	T	30863415	3	4	81	1	0	0	0	0	1	0	0	0	8716	304	11	5	1197	5	LCLAT1	2	30863415	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	483833	30863415	212335958	1744	5360											
CAPN13	92291	broad.mit.edu	37	2	30959398	30959398	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:30959398G>A	ENST00000295055.8	-	18	1869	c.1693C>T	c.(1693-1695)Cga>Tga	p.R565*	CAPN13_ENST00000534090.2_Nonsense_Mutation_p.R565*	NM_144575.2	NP_653176.2	Q6MZZ7	CAN13_HUMAN	calpain 13	565	EF-hand 1.				proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					TTCCACAGTCGCGCAAACTCC	0.537													18	28					0	0	1	0	0	A	30959398	G	A	30959398	4	1	81	1	0	0	0	0	0	1	0	0	2644	1095	38	1	336	1	CAPN13	2	30959398	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	95983	30959398	212239975	1745	5361											
CAPN13	92291	broad.mit.edu	37	2	30980986	30980986	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:30980986G>A	ENST00000295055.8	-	8	968	c.792C>T	c.(790-792)ggC>ggT	p.G264G	CAPN13_ENST00000534090.2_Silent_p.G264G|CAPN13_ENST00000465960.2_5'UTR	NM_144575.2	NP_653176.2	Q6MZZ7	CAN13_HUMAN	calpain 13	264	Calpain catalytic.				proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					TTTCTTCCCAGCCCCTTCGGT	0.512													4	10					0	0	1	0	0	A	30980986	G	A	30980986	2	1	81	1	0	0	0	0	0	0	0	1	2644	958	34	2		2	CAPN13	2	30980986	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	21588	30980986	212218387	1746	5362											
CAPN13	92291	broad.mit.edu	37	2	30993237	30993237	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:30993237G>A	ENST00000295055.8	-	5	642	c.466C>T	c.(466-468)Cgt>Tgt	p.R156C	CAPN13_ENST00000534090.2_Missense_Mutation_p.R156C|CAPN13_ENST00000465960.2_5'UTR	NM_144575.2	NP_653176.2	Q6MZZ7	CAN13_HUMAN	calpain 13	156	Calpain catalytic.				proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					TGGCGAGGACGCACAAAGAGG	0.552													36	47					0	0	1	0	0	A	30993237	G	A	30993237	3	1	81	1	0	0	0	0	1	0	0	0	2644	1087	38	1	1615	1	CAPN13	2	30993237	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	12251	30993237	212206136	1747	5363											
CAPN13	92291	broad.mit.edu	37	2	31010224	31010224	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:31010224C>A	ENST00000295055.8	-	2	145		c.e2-1		CAPN13_ENST00000534090.2_Splice_Site|CAPN13_ENST00000465960.2_Splice_Site	NM_144575.2	NP_653176.2	Q6MZZ7	CAN13_HUMAN	calpain 13						proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					AGGTCCTTTCCTGTTGGTGAG	0.478													7	8					8.12818e-05	8.94031e-05	1	1	0	A	31010224	C	A	31010224	5	1	81	1	0	0	0	0	0	0	1	0	2644	695	24	4		4	CAPN13	2	31010224	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	16987	31010224	212189149	1748	5364											
GALNT14	79623	broad.mit.edu	37	2	31133788	31133788	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:31133788G>A	ENST00000349752.5	-	15	2277	c.1638C>T	c.(1636-1638)caC>caT	p.H546H	GALNT14_ENST00000420311.2_Silent_p.H511H|GALNT14_ENST00000486564.1_5'UTR|GALNT14_ENST00000406653.1_Silent_p.H526H|GALNT14_ENST00000356174.3_Silent_p.H513H|GALNT14_ENST00000324589.5_Silent_p.H551H	NM_024572.3	NP_078848.2	Q96FL9	GLT14_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14)	546	Ricin B-type lectin.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)	43	Acute lymphoblastic leukemia(172;0.155)					CCATGTCCCAGTGCTGGCTCA	0.572													20	38					0	0	1	0	0	A	31133788	G	A	31133788	2	1	81	1	0	0	0	0	0	0	0	1	6252	1020	36	2		2	GALNT14	2	31133788	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	123564	31133788	212065585	1749	5365											
GALNT14	79623	broad.mit.edu	37	2	31135138	31135138	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:31135138G>T	ENST00000349752.5	-	14	2090	c.1451C>A	c.(1450-1452)cCt>cAt	p.P484H	GALNT14_ENST00000420311.2_Missense_Mutation_p.P449H|GALNT14_ENST00000486564.1_5'UTR|GALNT14_ENST00000406653.1_Missense_Mutation_p.P464H|GALNT14_ENST00000356174.3_Missense_Mutation_p.P451H|GALNT14_ENST00000324589.5_Missense_Mutation_p.P489H	NM_024572.3	NP_078848.2	Q96FL9	GLT14_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14)	484	Ricin B-type lectin.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)	43	Acute lymphoblastic leukemia(172;0.155)					TGGGGCGCCAGGGAACAAGGT	0.552													7	70					0.000157383	0.000171784	1	1	0	T	31135138	G	T	31135138	3	4	81	1	0	0	0	0	1	0	0	0	6252	1000	35	4	215	4	GALNT14	2	31135138	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1350	31135138	212064235	1750	5366											
GALNT14	79623	broad.mit.edu	37	2	31178596	31178596	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:31178596C>T	ENST00000349752.5	-	6	1181	c.542G>A	c.(541-543)cGg>cAg	p.R181Q	GALNT14_ENST00000420311.2_Missense_Mutation_p.R146Q|GALNT14_ENST00000406653.1_Missense_Mutation_p.R161Q|GALNT14_ENST00000356174.3_Missense_Mutation_p.R148Q|GALNT14_ENST00000324589.5_Missense_Mutation_p.R186Q	NM_024572.3	NP_078848.2	Q96FL9	GLT14_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14)	181	Catalytic subdomain A.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)	43	Acute lymphoblastic leukemia(172;0.155)					AATCCGGGACCGGACCAGACC	0.602													21	36					0	0	1	0	0	T	31178596	C	T	31178596	3	4	81	1	0	0	0	0	1	0	0	0	6252	652	23	1	1156	1	GALNT14	2	31178596	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	43458	31178596	212020777	1751	5367											
EHD3	30845	broad.mit.edu	37	2	31467293	31467293	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:31467293C>A	ENST00000322054.5	+	2	666	c.381C>A	c.(379-381)gcC>gcA	p.A127A	EHD3_ENST00000541626.1_Silent_p.A127A	NM_014600.2	NP_055415.1	Q9NZN3	EHD3_HUMAN	EH-domain containing 3	127					blood coagulation|endocytic recycling|protein homooligomerization	nucleus|plasma membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|skin(3)	33	Acute lymphoblastic leukemia(172;0.155)					AACTCAACGCCTTTGGCAACG	0.532													5	44					2.0095e-06	2.30238e-06	1	1	0	A	31467293	C	A	31467293	2	1	81	1	0	0	0	0	0	0	0	1	5005	668	24	4		4	EHD3	2	31467293	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	288697	31467293	211732080	1752	5368											
EHD3	30845	broad.mit.edu	37	2	31489453	31489453	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:31489453C>T	ENST00000322054.5	+	6	1776	c.1491C>T	c.(1489-1491)gaC>gaT	p.D497D	EHD3_ENST00000541626.1_3'UTR	NM_014600.2	NP_055415.1	Q9NZN3	EHD3_HUMAN	EH-domain containing 3	497	EF-hand.|EH.				blood coagulation|endocytic recycling|protein homooligomerization	nucleus|plasma membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|skin(3)	33	Acute lymphoblastic leukemia(172;0.155)					GCATGCTGGACGACGACGAGT	0.602													26	43					0	0	1	0	0	T	31489453	C	T	31489453	2	4	81	1	0	0	0	0	0	0	0	1	5005	535	19	1		1	EHD3	2	31489453	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	22160	31489453	211709920	1753	5369											
XDH	7498	broad.mit.edu	37	2	31565075	31565075	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:31565075T>G	ENST00000379416.3	-	32	3541	c.3493A>C	c.(3493-3495)Atc>Ctc	p.I1165L		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	1165					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	AGGCAGTCGATTTCTACTTCA	0.448													9	73					0	0	1	0	0	G	31565075	T	G	31565075	3	3	81	1	0	0	0	0	1	0	0	0	17486	1493	52	4	528	4	XDH	2	31565075	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	75622	31565075	211634298	1754	5370											
XDH	7498	broad.mit.edu	37	2	31591469	31591469	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:31591469G>C	ENST00000379416.3	-	19	2086	c.2038C>G	c.(2038-2040)Cag>Gag	p.Q680E		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	680					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	GCAGCTCTCTGTGTGTGTTCC	0.488													30	52					0	0	1	0	0	C	31591469	G	C	31591469	3	2	81	1	0	0	0	0	1	0	0	0	17486	1386	48	5	2035	5	XDH	2	31591469	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	26394	31591469	211607904	1755	5371											
XDH	7498	broad.mit.edu	37	2	31591522	31591522	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:31591522G>A	ENST00000379416.3	-	19	2033	c.1985C>T	c.(1984-1986)aCt>aTt	p.T662I		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	662					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	CCCAACACAAGTAACCTAGTA	0.468													31	50					0	0	1	0	0	A	31591522	G	A	31591522	3	1	81	1	0	0	0	0	1	0	0	0	17486	1029	36	2	2088	2	XDH	2	31591522	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	53	31591522	211607851	1756	5372											
XDH	7498	broad.mit.edu	37	2	31602786	31602786	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:31602786G>T	ENST00000379416.3	-	13	1237	c.1189C>A	c.(1189-1191)Ctg>Atg	p.L397M		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	397	FAD-binding PCMH-type.				purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	GGGCTCAGCAGGGTCTTTCTG	0.527													36	67					8.01111e-26	1.06104e-25	1	1	0	T	31602786	G	T	31602786	3	4	81	1	0	0	0	0	1	0	0	0	17486	991	35	4	2908	4	XDH	2	31602786	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	11264	31602786	211596587	1757	5373											
XDH	7498	broad.mit.edu	37	2	31637509	31637509	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:31637509G>T	ENST00000379416.3	-	1	72	c.24C>A	c.(22-24)ttC>ttA	p.F8L		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	8	2Fe-2S ferredoxin-type.				purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	CATTCACAAAGAAAACCAATT	0.498													32	106					2.48696e-23	3.27521e-23	1	1	0	T	31637509	G	T	31637509	3	4	81	1	0	0	0	0	1	0	0	0	17486	933	33	4	4121	4	XDH	2	31637509	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	34723	31637509	211561864	1758	5374											
NLRC4	58484	broad.mit.edu	37	2	32449721	32449721	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:32449721G>A	ENST00000404025.2	-	10	3384	c.2896C>T	c.(2896-2898)Caa>Taa	p.Q966*	NLRC4_ENST00000402280.1_Nonsense_Mutation_p.Q966*|NLRC4_ENST00000360906.5_Nonsense_Mutation_p.Q966*|NLRC4_ENST00000342905.6_Nonsense_Mutation_p.Q301*			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	966					activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					AACACTAATTGCTTAAGATTC	0.383													10	58					0	0	1	0	0	A	32449721	G	A	32449721	4	1	81	1	0	0	0	0	0	1	0	0	10516	1328	46	2	182	2	NLRC4	2	32449721	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	812212	32449721	210749652	1759	5375											
NLRC4	58484	broad.mit.edu	37	2	32474692	32474692	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:32474692C>T	ENST00000404025.2	-	5	2729	c.2241G>A	c.(2239-2241)caG>caA	p.Q747Q	NLRC4_ENST00000402280.1_Silent_p.Q747Q|NLRC4_ENST00000360906.5_Silent_p.Q747Q|NLRC4_ENST00000342905.6_Intron			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	747					activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					GCCGTTGATTCTGTAGGTCAT	0.393													84	138					0	0	1	0	0	T	32474692	C	T	32474692	2	4	81	1	0	0	0	0	0	0	0	1	10516	912	32	2		2	NLRC4	2	32474692	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	24971	32474692	210724681	1760	5376											
NLRC4	58484	broad.mit.edu	37	2	32475470	32475470	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:32475470C>T	ENST00000404025.2	-	5	1951	c.1463G>A	c.(1462-1464)aGc>aAc	p.S488N	NLRC4_ENST00000402280.1_Missense_Mutation_p.S488N|NLRC4_ENST00000360906.5_Missense_Mutation_p.S488N|NLRC4_ENST00000342905.6_Intron			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	488					activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					GAGCAGGCTGCTATAAGTGGA	0.512													19	37					0	0	1	0	0	T	32475470	C	T	32475470	3	4	81	1	0	0	0	0	1	0	0	0	10516	797	28	2	1635	2	NLRC4	2	32475470	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	778	32475470	210723903	1761	5377											
YIPF4	84272	broad.mit.edu	37	2	32526473	32526473	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:32526473G>A	ENST00000238831.4	+	5	752	c.506G>A	c.(505-507)gGa>gAa	p.G169E		NM_032312.3	NP_115688.1	Q9BSR8	YIPF4_HUMAN	Yip1 domain family, member 4							endoplasmic reticulum|integral to membrane	protein binding			kidney(2)|lung(3)|prostate(3)|skin(1)	9	Acute lymphoblastic leukemia(172;0.155)					CAAGTCCTTGGAGTTATAGGA	0.308													40	58					0	0	1	0	0	A	32526473	G	A	32526473	3	1	81	1	0	0	0	0	1	0	0	0	17540	1174	41	2	524	2	YIPF4	2	32526473	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	51003	32526473	210672900	1762	5378											
YIPF4	84272	broad.mit.edu	37	2	32530576	32530576	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:32530576G>A	ENST00000238831.4	+	6	862	c.616G>A	c.(616-618)Gct>Act	p.A206T		NM_032312.3	NP_115688.1	Q9BSR8	YIPF4_HUMAN	Yip1 domain family, member 4							endoplasmic reticulum|integral to membrane	protein binding			kidney(2)|lung(3)|prostate(3)|skin(1)	9	Acute lymphoblastic leukemia(172;0.155)					TGTGTTTTGGGCTGCCTACAG	0.328													26	45					0	0	1	0	0	A	32530576	G	A	32530576	3	1	81	1	0	0	0	0	1	0	0	0	17540	1203	42	2	638	2	YIPF4	2	32530576	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	4103	32530576	210668797	1763	5379											
BIRC6	57448	broad.mit.edu	37	2	32613827	32613827	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:32613827G>T	ENST00000421745.2	+	4	789	c.655G>T	c.(655-657)Gtt>Ttt	p.V219F		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	219					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					GTGGGCCACAGTTACATTTCA	0.358													7	25					8.12818e-05	8.94031e-05	1	1	0	T	32613827	G	T	32613827	3	4	81	1	0	0	0	0	1	0	0	0	1437	1029	36	4	669	4	BIRC6	2	32613827	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	83251	32613827	210585546	1764	5380											
BIRC6	57448	broad.mit.edu	37	2	32688447	32688447	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:32688447C>T	ENST00000421745.2	+	24	5073	c.4939C>T	c.(4939-4941)Cag>Tag	p.Q1647*		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	1647					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					GCTTCAGCAACAGGTTGGAGA	0.423													9	13					0	0	1	0	0	T	32688447	C	T	32688447	4	4	81	1	0	0	0	0	0	1	0	0	1437	479	17	2	5033	2	BIRC6	2	32688447	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	74620	32688447	210510926	1765	5381											
BIRC6	57448	broad.mit.edu	37	2	32702460	32702460	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:32702460C>T	ENST00000421745.2	+	35	7011	c.6877C>T	c.(6877-6879)Cgt>Tgt	p.R2293C		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	2293					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					AATTCGTTTACGTCGGACAGC	0.338													27	77					0	0	1	0	0	T	32702460	C	T	32702460	3	4	81	1	0	0	0	0	1	0	0	0	1437	536	19	1	7015	1	BIRC6	2	32702460	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	14013	32702460	210496913	1766	5382											
BIRC6	57448	broad.mit.edu	37	2	32735686	32735686	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:32735686C>A	ENST00000421745.2	+	53	10465	c.10331C>A	c.(10330-10332)cCt>cAt	p.P3444H		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	3444					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					ACTCAGGATCCTGGTACAAAA	0.338													9	117					0.000442599	0.000477972	1	1	0	A	32735686	C	A	32735686	3	1	81	1	0	0	0	0	1	0	0	0	1437	681	24	4	10541	4	BIRC6	2	32735686	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	33226	32735686	210463687	1767	5383											
BIRC6	57448	broad.mit.edu	37	2	32740275	32740275	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:32740275C>T	ENST00000421745.2	+	55	10921	c.10787C>T	c.(10786-10788)tCt>tTt	p.S3596F		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	3596					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					ACAGATGACTCTAAAAATGCA	0.408													17	35					0	0	1	0	0	T	32740275	C	T	32740275	3	4	81	1	0	0	0	0	1	0	0	0	1437	913	32	2	11005	2	BIRC6	2	32740275	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	4589	32740275	210459098	1768	5384											
TTC27	55622	broad.mit.edu	37	2	33012102	33012102	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:33012102C>T	ENST00000317907.4	+	16	2115	c.1884C>T	c.(1882-1884)caC>caT	p.H628H		NM_001193509.1|NM_017735.4	NP_001180438.1|NP_060205.3	Q6P3X3	TTC27_HUMAN	tetratricopeptide repeat domain 27	628							protein binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38						ACTATGAACACTGGCAGATTT	0.368													5	55					0	0	1	0	0	T	33012102	C	T	33012102	2	4	81	1	0	0	0	0	0	0	0	1	16757	564	20	2		2	TTC27	2	33012102	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	271827	33012102	210187271	1769	5385											
LTBP1	4052	broad.mit.edu	37	2	33468843	33468843	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:33468843G>T	ENST00000404816.2	+	10	2344	c.1991G>T	c.(1990-1992)aGt>aTt	p.S664I	LTBP1_ENST00000407925.1_Missense_Mutation_p.S338I|LTBP1_ENST00000404525.1_Missense_Mutation_p.S338I|LTBP1_ENST00000390003.4_Missense_Mutation_p.S338I|LTBP1_ENST00000418533.2_Missense_Mutation_p.S338I|LTBP1_ENST00000402934.1_Missense_Mutation_p.S338I|LTBP1_ENST00000354476.3_Missense_Mutation_p.S664I			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	664					negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				ACCTTTTCAAGTTGTGTTCGT	0.408													7	77					0.00198382	0.00209725	1	1	0	T	33468843	G	T	33468843	3	4	81	1	0	0	0	0	1	0	0	0	9118	1029	36	4	2084	4	LTBP1	2	33468843	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	456741	33468843	209730530	1770	5386											
LTBP1	4052	broad.mit.edu	37	2	33518329	33518329	+	Missense_Mutation	SNP	C	C	T	rs150123521		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:33518329C>T	ENST00000404816.2	+	20	3568	c.3215C>T	c.(3214-3216)cCg>cTg	p.P1072L	LTBP1_ENST00000407925.1_Missense_Mutation_p.P746L|LTBP1_ENST00000404525.1_Missense_Mutation_p.P693L|LTBP1_ENST00000390003.4_Missense_Mutation_p.P747L|LTBP1_ENST00000418533.2_Missense_Mutation_p.P746L|LTBP1_ENST00000402934.1_Missense_Mutation_p.P693L|LTBP1_ENST00000272273.5_Missense_Mutation_p.P12L|LTBP1_ENST00000498013.1_3'UTR|LTBP1_ENST00000354476.3_Missense_Mutation_p.P1073L			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	1072	EGF-like 8; calcium-binding (Potential).				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				ACCCGGACTCCGGACCACAAG	0.428													22	28					0	0	1	0	0	T	33518329	C	T	33518329	3	4	81	1	0	0	0	0	1	0	0	0	9118	652	23	1	3348	1	LTBP1	2	33518329	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	49486	33518329	209681044	1771	5387											
LTBP1	4052	broad.mit.edu	37	2	33568012	33568012	+	Missense_Mutation	SNP	G	G	A	rs140281612	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:33568012G>A	ENST00000404816.2	+	25	4191	c.3838G>A	c.(3838-3840)Gat>Aat	p.D1280N	LTBP1_ENST00000407925.1_Missense_Mutation_p.D954N|LTBP1_ENST00000404525.1_Missense_Mutation_p.D901N|LTBP1_ENST00000390003.4_Missense_Mutation_p.D955N|LTBP1_ENST00000418533.2_Intron|LTBP1_ENST00000402934.1_Missense_Mutation_p.D901N|LTBP1_ENST00000272273.5_Intron|LTBP1_ENST00000354476.3_Missense_Mutation_p.D1281N			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	1280	EGF-like 13; calcium-binding (Potential).				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				AGCCCCACAGGATGGGCAAGG	0.463													15	30					0	0	1	0	0	A	33568012	G	A	33568012	3	1	81	1	0	0	0	0	1	0	0	0	9118	1174	41	2	3991	2	LTBP1	2	33568012	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	49683	33568012	209631361	1772	5388											
LTBP1	4052	broad.mit.edu	37	2	33590519	33590519	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:33590519T>C	ENST00000404816.2	+	31	5013	c.4660T>C	c.(4660-4662)Tat>Cat	p.Y1554H	LTBP1_ENST00000407925.1_Missense_Mutation_p.Y1228H|LTBP1_ENST00000404525.1_Missense_Mutation_p.Y1175H|LTBP1_ENST00000390003.4_Missense_Mutation_p.Y1229H|LTBP1_ENST00000418533.2_Missense_Mutation_p.Y1186H|LTBP1_ENST00000402934.1_Missense_Mutation_p.Y1173H|LTBP1_ENST00000272273.5_Missense_Mutation_p.Y452H|LTBP1_ENST00000354476.3_Missense_Mutation_p.Y1555H			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	1554	TB 4.				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				CTGCTGTCTGTATGGAGAGGC	0.542													8	62					0	0	1	0	0	C	33590519	T	C	33590519	3	2	81	1	0	0	0	0	1	0	0	0	9118	1638	57	3	4837	3	LTBP1	2	33590519	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	22507	33590519	209608854	1773	5389											
LTBP1	4052	broad.mit.edu	37	2	33623537	33623537	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:33623537G>A	ENST00000404816.2	+	34	5444	c.5091G>A	c.(5089-5091)gtG>gtA	p.V1697V	LTBP1_ENST00000407925.1_Silent_p.V1371V|LTBP1_ENST00000404525.1_Silent_p.V1318V|LTBP1_ENST00000390003.4_Silent_p.V1372V|LTBP1_ENST00000418533.2_Silent_p.V1329V|LTBP1_ENST00000402934.1_Silent_p.V1316V|LTBP1_ENST00000272273.5_Silent_p.V595V|LTBP1_ENST00000354476.3_Silent_p.V1698V			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	1697	EGF-like 18; calcium-binding (Potential).				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				CAGGCTACGTGCCTTCTGACA	0.463													20	33					0	0	1	0	0	A	33623537	G	A	33623537	2	1	81	1	0	0	0	0	0	0	0	1	9118	1306	46	2		2	LTBP1	2	33623537	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	33018	33623537	209575836	1774	5390											
RASGRP3	25780	broad.mit.edu	37	2	33747045	33747045	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:33747045G>T	ENST00000403687.3	+	7	1132	c.392G>T	c.(391-393)aGa>aTa	p.R131I	RASGRP3_ENST00000402538.3_Missense_Mutation_p.R131I|RASGRP3_ENST00000407811.1_Missense_Mutation_p.R131I	NM_001139488.1	NP_001132960.1	Q8IV61	GRP3_HUMAN	RAS guanyl releasing protein 3 (calcium and DAG-regulated)	131					MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity|protein binding|Rap GTPase activator activity|signal transducer activity	p.R131K(1)		large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|stomach(2)	11	all_hematologic(175;0.115)					TGGATGAGAAGAGTCACACAG	0.438													9	86					2.17888e-05	2.43576e-05	1	1	0	T	33747045	G	T	33747045	3	4	81	1	0	0	0	0	1	0	0	0	13128	942	33	4	410	4	RASGRP3	2	33747045	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	123508	33747045	209452328	1775	5391											
FAM98A	25940	broad.mit.edu	37	2	33810031	33810031	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:33810031G>A	ENST00000238823.8	-	8	1509	c.1369C>T	c.(1369-1371)Cgt>Tgt	p.R457C	FAM98A_ENST00000403368.1_3'UTR|FAM98A_ENST00000441530.2_Missense_Mutation_p.R262C			Q8NCA5	FA98A_HUMAN	family with sequence similarity 98, member A	458	Gly-rich.									NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(1)	24	all_hematologic(175;0.115)					ccaccaccacgatcaccaTGG	0.582													27	48					0	0	1	0	0	A	33810031	G	A	33810031	3	1	81	1	0	0	0	0	1	0	0	0	5689	1058	37	1	191	1	FAM98A	2	33810031	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	62986	33810031	209389342	1776	5392											
FAM98A	25940	broad.mit.edu	37	2	33813498	33813498	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:33813498G>A	ENST00000403368.1	-	4	495	c.426C>T	c.(424-426)gtC>gtT	p.V142V	FAM98A_ENST00000238823.8_Silent_p.V142V|FAM98A_ENST00000498340.1_Intron|FAM98A_ENST00000441530.2_Intron	NM_015475.3	NP_056290.3	Q8NCA5	FA98A_HUMAN	family with sequence similarity 98, member A	142										NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(1)	24	all_hematologic(175;0.115)					ACTCTTGAAAGACCTCACTAC	0.413													62	78					0	0	1	0	0	A	33813498	G	A	33813498	2	1	81	1	0	0	0	0	0	0	0	1	5689	929	33	2		2	FAM98A	2	33813498	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	3467	33813498	209385875	1777	5393											
CRIM1	51232	broad.mit.edu	37	2	36749446	36749446	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:36749446C>A	ENST00000280527.2	+	13	2785	c.2418C>A	c.(2416-2418)ccC>ccA	p.P806P		NM_016441.2	NP_057525.1	Q9NZV1	CRIM1_HUMAN	cysteine rich transmembrane BMP regulator 1 (chordin-like)	806	VWFC 5.				nervous system development|regulation of cell growth	extracellular region|integral to membrane|plasma membrane	insulin-like growth factor binding|insulin-like growth factor receptor activity|serine-type endopeptidase inhibitor activity			autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(15)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	45		all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154)				AGTGTTGTCCCTACTGCATAG	0.413													8	71					0.000157383	0.000171784	1	1	0	A	36749446	C	A	36749446	2	1	81	1	0	0	0	0	0	0	0	1	3896	668	24	4		4	CRIM1	2	36749446	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2935948	36749446	206449927	1778	5394											
VIT	5212	broad.mit.edu	37	2	36986260	36986260	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:36986260C>T	ENST00000457137.2	+	6	786	c.558C>T	c.(556-558)agC>agT	p.S186S	VIT_ENST00000401530.1_Intron|VIT_ENST00000404084.1_Intron|VIT_ENST00000379241.3_Intron|VIT_ENST00000379242.3_Intron|VIT_ENST00000497382.1_Intron|VIT_ENST00000389975.3_Intron	NM_001177972.1	NP_001171443.1	Q6UXI7	VITRN_HUMAN	vitrin	0						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)				TGGGAGATAGCGGAGAAATTA	0.468													14	30					0	0	1	0	0	T	36986260	C	T	36986260	2	4	81	1	0	0	0	0	0	0	0	1	17231	767	27	1		1	VIT	2	36986260	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	236814	36986260	206213113	1779	5395											
VIT	5212	broad.mit.edu	37	2	37035650	37035650	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:37035650C>T	ENST00000379242.3	+	15	1727	c.1425C>T	c.(1423-1425)caC>caT	p.H475H	VIT_ENST00000401530.1_Silent_p.H439H|VIT_ENST00000404084.1_Silent_p.H412H|VIT_ENST00000379241.3_Silent_p.H438H|VIT_ENST00000497382.1_Silent_p.H129H|VIT_ENST00000389975.3_Silent_p.H460H	NM_053276.3	NP_444506.2	Q6UXI7	VITRN_HUMAN	vitrin	460	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)				ACTCGCTCCACGTGCAGAGCT	0.607													8	23					0	0	1	0	0	T	37035650	C	T	37035650	2	4	81	1	0	0	0	0	0	0	0	1	17231	535	19	1		1	VIT	2	37035650	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	49390	37035650	206163723	1780	5396											
VIT	5212	broad.mit.edu	37	2	37041325	37041325	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:37041325G>T	ENST00000379242.3	+	16	2205		c.e16-1		VIT_ENST00000401530.1_Splice_Site|VIT_ENST00000404084.1_Splice_Site|VIT_ENST00000379241.3_Splice_Site|VIT_ENST00000497382.1_Splice_Site|VIT_ENST00000389975.3_Splice_Site	NM_053276.3	NP_444506.2	Q6UXI7	VITRN_HUMAN	vitrin							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)				TGTCCCCACAGGAGTGATCAC	0.512													20	15					3.51602e-12	4.38715e-12	1	1	0	T	37041325	G	T	37041325	5	4	81	1	0	0	0	0	0	0	1	0	17231	1014	35	4	2086	4	VIT	2	37041325	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	5675	37041325	206158048	1781	5397											
STRN	6801	broad.mit.edu	37	2	37152312	37152312	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:37152312C>T	ENST00000263918.4	-	2	282	c.274G>A	c.(274-276)Gaa>Aaa	p.E92K	STRN_ENST00000379213.2_Missense_Mutation_p.E80K	NM_003162.3	NP_003153.2	O43815	STRN_HUMAN	striatin, calmodulin binding protein	92					dendrite development|locomotory behavior|negative regulation of cell proliferation|tight junction assembly|Wnt receptor signaling pathway	cytoplasm|dendritic spine|neuronal cell body|postsynaptic density|postsynaptic membrane|tight junction	armadillo repeat domain binding|calmodulin binding|estrogen receptor binding|protein complex binding|protein phosphatase 2A binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33		Ovarian(717;0.0129)|all_hematologic(82;0.21)				TTCAAATTTTCTTGGCCCTTC	0.373													4	78					0	0	1	0	0	T	37152312	C	T	37152312	3	4	81	1	0	0	0	0	1	0	0	0	15385	922	32	2	2136	2	STRN	2	37152312	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	110987	37152312	206047061	1782	5398											
HEATR5B	54497	broad.mit.edu	37	2	37285656	37285656	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:37285656G>T	ENST00000233099.5	-	14	2092	c.1997C>A	c.(1996-1998)gCt>gAt	p.A666D	HEATR5B_ENST00000354531.2_Missense_Mutation_p.A666D	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	666							binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				GACCATTGCAGCACTAGCTTT	0.323													4	60					0.150653	0.152522	1	1	0	T	37285656	G	T	37285656	3	4	81	1	0	0	0	0	1	0	0	0	7073	971	34	4	4310	4	HEATR5B	2	37285656	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	133344	37285656	205913717	1783	5399											
HEATR5B	54497	broad.mit.edu	37	2	37297432	37297432	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:37297432C>A	ENST00000233099.5	-	7	963	c.868G>T	c.(868-870)Gga>Tga	p.G290*	HEATR5B_ENST00000354531.2_Nonsense_Mutation_p.G290*	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	290							binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				AACATTTCTCCACCGCTCTTT	0.453													12	139					9.31168e-06	1.05369e-05	1	1	0	A	37297432	C	A	37297432	4	1	81	1	0	0	0	0	0	1	0	0	7073	603	21	5	5467	5	HEATR5B	2	37297432	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	11776	37297432	205901941	1784	5400											
HEATR5B	54497	broad.mit.edu	37	2	37297471	37297471	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:37297471C>A	ENST00000233099.5	-	7	924	c.829G>T	c.(829-831)Gga>Tga	p.G277*	HEATR5B_ENST00000354531.2_Nonsense_Mutation_p.G277*	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	277							binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				CGCAGAAATCCTGTGGCCATG	0.403													14	112					1.49906e-05	1.6816e-05	1	1	0	A	37297471	C	A	37297471	4	1	81	1	0	0	0	0	0	1	0	0	7073	690	24	4	5506	4	HEATR5B	2	37297471	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	39	37297471	205901902	1785	5401											
HEATR5B	54497	broad.mit.edu	37	2	37302635	37302635	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:37302635A>G	ENST00000233099.5	-	5	685	c.590T>C	c.(589-591)gTg>gCg	p.V197A	HEATR5B_ENST00000354531.2_Missense_Mutation_p.V197A	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	197							binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				AACCTTGGCCACTGCACATCG	0.398													13	126					0	0	1	0	0	G	37302635	A	G	37302635	3	3	81	1	0	0	0	0	1	0	0	0	7073	159	6	3	5753	3	HEATR5B	2	37302635	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	5164	37302635	205896738	1786	5402											
SULT6B1	391365	broad.mit.edu	37	2	37414560	37414560	+	Nonsense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:37414560T>A	ENST00000535679.1	-	2	249	c.250A>T	c.(250-252)Aaa>Taa	p.K84*	SULT6B1_ENST00000379149.2_Nonsense_Mutation_p.K84*|SULT6B1_ENST00000407963.1_Nonsense_Mutation_p.K46*|SULT6B1_ENST00000260637.3_Nonsense_Mutation_p.K46*			Q6IMI4	ST6B1_HUMAN	sulfotransferase family, cytosolic, 6B, member 1	84						cytoplasm	sulfotransferase activity			NS(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(5)|ovary(1)	12		all_hematologic(82;0.248)				TACTTTTTTTTAGAAACAGCA	0.323													6	50					0	0	1	0	0	A	37414560	T	A	37414560	4	1	81	1	0	0	0	0	0	1	0	0	15440	1763	61	5	685	5	SULT6B1	2	37414560	Nonsense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	111925	37414560	205784813	1787	5403											
CEBPZ	10153	broad.mit.edu	37	2	37450453	37450453	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:37450453G>A	ENST00000234170.5	-	3	1886	c.1741C>T	c.(1741-1743)Cgc>Tgc	p.R581C		NM_005760.2	NP_005751.2	Q03701	CEBPZ_HUMAN	CCAAT/enhancer binding protein (C/EBP), zeta	581					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding			breast(3)|endometrium(2)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28		all_hematologic(82;0.21)				TTCACCCGGCGCAACACAATG	0.418													30	58					0	0	1	0	0	A	37450453	G	A	37450453	3	1	81	1	0	0	0	0	1	0	0	0	3226	1087	38	1	1479	1	CEBPZ	2	37450453	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	35893	37450453	205748920	1788	5404											
CEBPZ	10153	broad.mit.edu	37	2	37454686	37454686	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:37454686C>T	ENST00000234170.5	-	2	1795		c.e2+1			NM_005760.2	NP_005751.2	Q03701	CEBPZ_HUMAN	CCAAT/enhancer binding protein (C/EBP), zeta						regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding			breast(3)|endometrium(2)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28		all_hematologic(82;0.21)				TATGTTCTTACCTGTATAATG	0.363													41	78					0	0	1	0	0	T	37454686	C	T	37454686	5	4	81	1	0	0	0	0	0	0	1	0	3226	521	18	2	1574	2	CEBPZ	2	37454686	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	4233	37454686	205744687	1789	5405											
QPCT	25797	broad.mit.edu	37	2	37586802	37586802	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:37586802G>T	ENST00000338415.3	+	3	505	c.347G>T	c.(346-348)gGg>gTg	p.G116V	QPCT_ENST00000537448.1_Missense_Mutation_p.G67V	NM_012413.3	NP_036545.1	Q16769	QPCT_HUMAN	glutaminyl-peptide cyclotransferase	116					peptidyl-pyroglutamic acid biosynthetic process, using glutaminyl-peptide cyclotransferase|proteolysis	extracellular region	acyltransferase activity|glutaminyl-peptide cyclotransferase activity|peptidase activity|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|stomach(2)	17		Ovarian(717;0.051)|all_hematologic(82;0.21)				ACACCCTATGGGTACCGGTCT	0.463													21	35					1.50039e-11	1.86073e-11	1	1	0	T	37586802	G	T	37586802	3	4	81	1	0	0	0	0	1	0	0	0	12926	1232	43	5	357	5	QPCT	2	37586802	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	132116	37586802	205612571	1790	5406											
QPCT	25797	broad.mit.edu	37	2	37594504	37594504	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:37594504A>G	ENST00000338415.3	+	4	834	c.676A>G	c.(676-678)Acc>Gcc	p.T226A	QPCT_ENST00000537448.1_Missense_Mutation_p.T177A	NM_012413.3	NP_036545.1	Q16769	QPCT_HUMAN	glutaminyl-peptide cyclotransferase	226					peptidyl-pyroglutamic acid biosynthetic process, using glutaminyl-peptide cyclotransferase|proteolysis	extracellular region	acyltransferase activity|glutaminyl-peptide cyclotransferase activity|peptidase activity|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|stomach(2)	17		Ovarian(717;0.051)|all_hematologic(82;0.21)				GATGGCATCGACCCCGCACCC	0.532													13	54					0	0	1	0	0	G	37594504	A	G	37594504	3	3	81	1	0	0	0	0	1	0	0	0	12926	275	10	3	690	3	QPCT	2	37594504	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	7702	37594504	205604869	1791	5407											
CYP1B1	1545	broad.mit.edu	37	2	38301921	38301921	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:38301921A>G	ENST00000260630.3	-	2	1012	c.611T>C	c.(610-612)gTc>gCc	p.V204A	CYP1B1_ENST00000494864.1_Intron|CYP1B1_ENST00000407341.1_Missense_Mutation_p.V204A	NM_000104.3	NP_000095	Q16678	CP1B1_HUMAN	cytochrome P450, family 1, subfamily B, polypeptide 1	204					visual perception|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)	13		all_hematologic(82;0.21)			Estrone(DB00655)	GGCACTCATGACGTTGGCCAC	0.711													2	4					0	0	1	0	0	G	38301921	A	G	38301921	3	3	81	1	0	0	0	0	1	0	0	0	4174	275	10	3	1028	3	CYP1B1	2	38301921	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	707417	38301921	204897452	1792	5408											
GALM	130589	broad.mit.edu	37	2	38960630	38960630	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:38960630C>T	ENST00000272252.5	+	7	1204	c.952C>T	c.(952-954)Ccc>Tcc	p.P318S	GALM_ENST00000410063.1_Splice_Site_p.P170S	NM_138801.2	NP_620156.1	Q96C23	GALM_HUMAN	galactose mutarotase (aldose 1-epimerase)	318					hexose metabolic process	cytoplasm	aldose 1-epimerase activity|carbohydrate binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	14		all_hematologic(82;0.248)				CCCTTCACAGCCCCGCTTCCC	0.532													33	79					0	0	1	0	0	T	38960630	C	T	38960630	5	4	81	1	0	0	0	0	0	0	1	0	6245	753	26	2	978	2	GALM	2	38960630	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	658709	38960630	204238743	1793	5409											
DHX57	90957	broad.mit.edu	37	2	39053084	39053084	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:39053084G>A	ENST00000295373.6	-	16	3045	c.2919C>T	c.(2917-2919)tgC>tgT	p.C973C		NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57	973	Helicase C-terminal.						ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62		all_hematologic(82;0.248)				ATAAATGGAAGCAGACCCCAG	0.458													23	39					0	0	1	0	0	A	39053084	G	A	39053084	2	1	81	1	0	0	0	0	0	0	0	1	4541	963	34	2		2	DHX57	2	39053084	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	92454	39053084	204146289	1794	5410											
SOS1	6654	broad.mit.edu	37	2	39224152	39224152	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:39224152C>A	ENST00000426016.1	-	20	3078	c.2992G>T	c.(2992-2994)Gga>Tga	p.G998*	SOS1_ENST00000395038.2_Nonsense_Mutation_p.G998*|SOS1_ENST00000402219.2_Nonsense_Mutation_p.G998*			Q07889	SOS1_HUMAN	son of sevenless homolog 1 (Drosophila)	998	Ras-GEF.				apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	DNA binding|protein binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	75		all_hematologic(82;0.21)				ATGCTATTTCCCATCGGATTC	0.299									Noonan syndrome				14	28					0.000219431	0.000239308	1	1	0	A	39224152	C	A	39224152	4	1	81	1	0	0	0	0	0	1	0	0	14990	632	22	5	1029	5	SOS1	2	39224152	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	171068	39224152	203975221	1795	5411											
SOS1	6654	broad.mit.edu	37	2	39239384	39239384	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:39239384G>T	ENST00000426016.1	-	15	2359	c.2273C>A	c.(2272-2274)cCt>cAt	p.P758H	SOS1_ENST00000395038.2_Missense_Mutation_p.P758H|SOS1_ENST00000402219.2_Missense_Mutation_p.P758H			Q07889	SOS1_HUMAN	son of sevenless homolog 1 (Drosophila)	758					apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	DNA binding|protein binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	75		all_hematologic(82;0.21)				AACTGTGGGAGGTGAACTCTG	0.393									Noonan syndrome				5	101					1.23904e-05	1.39156e-05	1	1	0	T	39239384	G	T	39239384	3	4	81	1	0	0	0	0	1	0	0	0	14990	1000	35	4	1768	4	SOS1	2	39239384	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	15232	39239384	203959989	1796	5412											
CDKL4	344387	broad.mit.edu	37	2	39406359	39406359	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:39406359C>T	ENST00000378803.1	-	8	895	c.896G>A	c.(895-897)cGt>cAt	p.R299H	CDKL4_ENST00000395035.3_Missense_Mutation_p.R299H	NM_001009565.1	NP_001009565.1	Q5MAI5	CDKL4_HUMAN	cyclin-dependent kinase-like 4	299						cytoplasm	ATP binding|cyclin-dependent protein kinase activity			breast(1)|large_intestine(2)|liver(1)|lung(7)|ovary(1)	12		all_hematologic(82;0.248)				TCCTTCATTACGTGCTTTTCT	0.378													39	81					0	0	1	0	0	T	39406359	C	T	39406359	3	4	81	1	0	0	0	0	1	0	0	0	3178	536	19	1	55	1	CDKL4	2	39406359	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	166975	39406359	203793014	1797	5413											
CDKL4	344387	broad.mit.edu	37	2	39440541	39440541	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:39440541G>A	ENST00000378803.1	-	3	362	c.363C>T	c.(361-363)aaC>aaT	p.N121N	CDKL4_ENST00000395035.3_Splice_Site_p.N121N	NM_001009565.1	NP_001009565.1	Q5MAI5	CDKL4_HUMAN	cyclin-dependent kinase-like 4	121	Protein kinase.					cytoplasm	ATP binding|cyclin-dependent protein kinase activity			breast(1)|large_intestine(2)|liver(1)|lung(7)|ovary(1)	12		all_hematologic(82;0.248)				TGTTACTTACGTTATGTATAT	0.328													25	32					0	0	1	0	0	A	39440541	G	A	39440541	5	1	81	1	0	0	0	0	0	0	1	0	3178	1159	40	1	608	1	CDKL4	2	39440541	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	34182	39440541	203758832	1798	5414											
CDKL4	344387	broad.mit.edu	37	2	39440589	39440589	+	Silent	SNP	G	G	A	rs140286102		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:39440589G>A	ENST00000378803.1	-	3	314	c.315C>T	c.(313-315)agC>agT	p.S105S	CDKL4_ENST00000395035.3_Silent_p.S105S	NM_001009565.1	NP_001009565.1	Q5MAI5	CDKL4_HUMAN	cyclin-dependent kinase-like 4	105	Protein kinase.					cytoplasm	ATP binding|cyclin-dependent protein kinase activity			breast(1)|large_intestine(2)|liver(1)|lung(7)|ovary(1)	12		all_hematologic(82;0.248)				GCCATAATACGCTTTTGATCA	0.343													26	43					0	0	1	0	0	A	39440589	G	A	39440589	2	1	81	1	0	0	0	0	0	0	0	1	3178	1078	38	1		1	CDKL4	2	39440589	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	48	39440589	203758784	1799	5415											
MAP4K3	8491	broad.mit.edu	37	2	39477781	39477781	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:39477781G>A	ENST00000263881.3	-	34	2987	c.2663C>T	c.(2662-2664)gCg>gTg	p.A888V	MAP4K3_ENST00000341681.5_Missense_Mutation_p.A867V|MAP4K3_ENST00000536018.1_Missense_Mutation_p.A441V|MAP4K3_ENST00000437545.1_Missense_Mutation_p.A804V	NM_003618.3	NP_003609.2	Q8IVH8	M4K3_HUMAN	mitogen-activated protein kinase kinase kinase kinase 3	888					JNK cascade		ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_hematologic(82;0.211)				TTCATGACCCGCCAGGATGTA	0.378													21	32					0	0	1	0	0	A	39477781	G	A	39477781	3	1	81	1	0	0	0	0	1	0	0	0	9311	1087	38	1	25	1	MAP4K3	2	39477781	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	37192	39477781	203721592	1800	5416											
MAP4K3	8491	broad.mit.edu	37	2	39499678	39499678	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:39499678G>A	ENST00000263881.3	-	25	2124	c.1800C>T	c.(1798-1800)ttC>ttT	p.F600F	MAP4K3_ENST00000341681.5_Silent_p.F579F|MAP4K3_ENST00000536018.1_Silent_p.F153F|MAP4K3_ENST00000437545.1_Silent_p.F516F	NM_003618.3	NP_003609.2	Q8IVH8	M4K3_HUMAN	mitogen-activated protein kinase kinase kinase kinase 3	600	CNH.				JNK cascade		ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_hematologic(82;0.211)				ACCTTCGAGGGAATAGCTGAT	0.303													6	58					0	0	1	0	0	A	39499678	G	A	39499678	2	1	81	1	0	0	0	0	0	0	0	1	9311	1165	41	2		2	MAP4K3	2	39499678	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	21897	39499678	203699695	1801	5417											
SLC8A1	6546	broad.mit.edu	37	2	40342396	40342396	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:40342396G>A	ENST00000406785.2	-	8	3000	c.2811C>T	c.(2809-2811)ttC>ttT	p.F937F	SLC8A1-AS1_ENST00000599268.1_RNA|SLC8A1-AS1_ENST00000596532.1_RNA|SLC8A1-AS1_ENST00000444629.1_RNA|SLC8A1_ENST00000542024.1_Silent_p.F937F|SLC8A1_ENST00000332839.4_Silent_p.F973F|SLC8A1_ENST00000406391.2_Silent_p.F937F|SLC8A1_ENST00000402441.1_Silent_p.F937F|SLC8A1-AS1_ENST00000593878.1_RNA|SLC8A1-AS1_ENST00000435515.1_RNA|SLC8A1-AS1_ENST00000593848.1_RNA|SLC8A1-AS1_ENST00000598247.1_RNA|SLC8A1-AS1_ENST00000597385.1_RNA|SLC8A1-AS1_ENST00000599740.1_RNA|SLC8A1-AS1_ENST00000599956.1_RNA|SLC8A1_ENST00000403092.1_Silent_p.F973F|SLC8A1_ENST00000405269.1_Silent_p.F937F|SLC8A1-AS1_ENST00000601679.1_RNA|SLC8A1_ENST00000405901.3_Silent_p.F968F|SLC8A1-AS1_ENST00000597170.1_RNA|SLC8A1_ENST00000542756.1_Silent_p.F968F|SLC8A1_ENST00000408028.2_Silent_p.F965F			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1						cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	AGTTCCTTTAGAAGCCTTTTA	0.383													16	24					0	0	1	0	0	A	40342396	G	A	40342396	2	1	81	1	0	0	0	0	0	0	0	1	14761	933	33	2		2	SLC8A1	2	40342396	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	842718	40342396	202856977	1802	5418											
SLC8A1	6546	broad.mit.edu	37	2	40656468	40656468	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:40656468T>C	ENST00000406785.2	-	2	1142	c.953A>G	c.(952-954)gAt>gGt	p.D318G	SLC8A1_ENST00000542024.1_Missense_Mutation_p.D318G|SLC8A1_ENST00000332839.4_Missense_Mutation_p.D318G|SLC8A1_ENST00000406391.2_Missense_Mutation_p.D318G|SLC8A1_ENST00000402441.1_Missense_Mutation_p.D318G|SLC8A1_ENST00000403092.1_Missense_Mutation_p.D318G|SLC8A1_ENST00000405269.1_Missense_Mutation_p.D318G|SLC8A1_ENST00000405901.3_Missense_Mutation_p.D318G|SLC8A1_ENST00000542756.1_Missense_Mutation_p.D318G|SLC8A1_ENST00000408028.2_Missense_Mutation_p.D318G			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1						cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	TTCTTCATCATCTTGGTCCCT	0.398													5	162					0	0	1	0	0	C	40656468	T	C	40656468	3	2	81	1	0	0	0	0	1	0	0	0	14761	1435	50	3	2116	3	SLC8A1	2	40656468	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	314072	40656468	202542905	1803	5419											
MTA3	57504	broad.mit.edu	37	2	42871382	42871382	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:42871382A>G	ENST00000405592.1	+	7	999	c.329A>G	c.(328-330)gAa>gGa	p.E110G	MTA3_ENST00000406652.1_Missense_Mutation_p.E110G|MTA3_ENST00000406911.1_Missense_Mutation_p.E166G|MTA3_ENST00000405094.1_Missense_Mutation_p.E166G|MTA3_ENST00000407270.3_Missense_Mutation_p.E166G	NM_001282755.1	NP_001269684.1	Q9BTC8	MTA3_HUMAN	metastasis associated 1 family, member 3	166	BAH.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|large_intestine(2)|lung(9)|ovary(2)|stomach(1)	15						ATGCTGTTAGAAGGTACGTTT	0.388													5	41					0	0	1	0	0	G	42871382	A	G	42871382	3	3	81	1	0	0	0	0	1	0	0	0	9958	246	9	3	519	3	MTA3	2	42871382	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	2214914	42871382	200327991	1804	5420											
MTA3	57504	broad.mit.edu	37	2	42936207	42936207	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:42936207C>A	ENST00000405592.1	+	15	1995	c.1325C>A	c.(1324-1326)gCt>gAt	p.A442D	MTA3_ENST00000406652.1_Missense_Mutation_p.A442D|MTA3_ENST00000406911.1_Missense_Mutation_p.A498D|MTA3_ENST00000472767.1_3'UTR|MTA3_ENST00000405094.1_Missense_Mutation_p.A499D|MTA3_ENST00000407270.3_Missense_Mutation_p.A499D	NM_001282755.1	NP_001269684.1	Q9BTC8	MTA3_HUMAN	metastasis associated 1 family, member 3	499						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|large_intestine(2)|lung(9)|ovary(2)|stomach(1)	15						CCGTTTGTTGCTATTAATTAT	0.408													4	6					1.23904e-05	1.39156e-05	1	1	0	A	42936207	C	A	42936207	3	1	81	1	0	0	0	0	1	0	0	0	9958	797	28	4	1550	4	MTA3	2	42936207	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	64825	42936207	200263166	1805	5421											
OXER1	165140	broad.mit.edu	37	2	42991053	42991053	+	Silent	SNP	C	C	T	rs143056921	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:42991053C>T	ENST00000378661.2	-	1	348	c.267G>A	c.(265-267)tcG>tcA	p.S89S		NM_148962.4	NP_683765.1	Q8TDS5	OXER1_HUMAN	oxoeicosanoid (OXE) receptor 1	89	Ser-rich.				regulation of cAMP biosynthetic process	integral to membrane|plasma membrane	5(S)-hydroxyperoxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding|5-hydroxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding|5-oxo-6E,8Z,11Z,14Z-icosatetraenoic acid binding|G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	10						CAGACACCAGCGAGGAAGAGG	0.632													15	19					0	0	1	0	0	T	42991053	C	T	42991053	2	4	81	1	0	0	0	0	0	0	0	1	11378	755	27	1		1	OXER1	2	42991053	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	54846	42991053	200208320	1806	5422											
THADA	63892	broad.mit.edu	37	2	43458140	43458140	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:43458140A>C	ENST00000405006.4	-	38	6160	c.5809T>G	c.(5809-5811)Tct>Gct	p.S1937A	AC010883.5_ENST00000423354.1_RNA|THADA_ENST00000405975.2_Missense_Mutation_p.S1937A|THADA_ENST00000330266.7_Intron|THADA_ENST00000415080.2_Missense_Mutation_p.S1618A	NM_001083953.1|NM_001271643.1	NP_001077422.1|NP_001258572.1	Q6YHU6	THADA_HUMAN	thyroid adenoma associated	1937							binding			breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				TCTGCATAAGAGTCCCAAACA	0.483													4	31					0	0	1	0	0	C	43458140	A	C	43458140	3	2	81	1	0	0	0	0	1	0	0	0	15900	304	11	5	56	5	THADA	2	43458140	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	467087	43458140	199741233	1807	5423											
THADA	63892	broad.mit.edu	37	2	43800057	43800057	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:43800057G>A	ENST00000403856.1	-	13	1951	c.1804C>T	c.(1804-1806)Cga>Tga	p.R602*	THADA_ENST00000404790.1_Nonsense_Mutation_p.R602*|THADA_ENST00000405006.4_Nonsense_Mutation_p.R602*|THADA_ENST00000405975.2_Nonsense_Mutation_p.R602*|THADA_ENST00000330266.7_Nonsense_Mutation_p.R312*|THADA_ENST00000415080.2_Nonsense_Mutation_p.R312*|THADA_ENST00000402360.2_Nonsense_Mutation_p.R602*			Q6YHU6	THADA_HUMAN	thyroid adenoma associated	602							binding			breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				CTAGCTATTCGCAGACATGCC	0.458													22	31					0	0	1	0	0	A	43800057	G	A	43800057	4	1	81	1	0	0	0	0	0	1	0	0	15900	1095	38	1	4165	1	THADA	2	43800057	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	341917	43800057	199399316	1808	5424											
PLEKHH2	130271	broad.mit.edu	37	2	43927114	43927114	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:43927114G>A	ENST00000282406.4	+	8	1127	c.1017G>A	c.(1015-1017)gaG>gaA	p.E339E		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	339						cytoplasm|cytoskeleton|integral to membrane	binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				TTGAGGAAGAGACTTTTGGCA	0.453													16	25					0	0	1	0	0	A	43927114	G	A	43927114	2	1	81	1	0	0	0	0	0	0	0	1	12125	933	33	2		2	PLEKHH2	2	43927114	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	127057	43927114	199272259	1809	5425											
PLEKHH2	130271	broad.mit.edu	37	2	43980863	43980863	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:43980863A>C	ENST00000282406.4	+	25	3869	c.3759A>C	c.(3757-3759)aaA>aaC	p.K1253N		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	1253	FERM.					cytoplasm|cytoskeleton|integral to membrane	binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				CTCTGAACAAAGATCTGGCAT	0.328													13	75					0	0	1	0	0	C	43980863	A	C	43980863	3	2	81	1	0	0	0	0	1	0	0	0	12125	69	3	5	3853	5	PLEKHH2	2	43980863	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	53749	43980863	199218510	1810	5426											
ABCG5	64240	broad.mit.edu	37	2	44051083	44051083	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:44051083C>T	ENST00000543989.1	-	5	1813	c.108G>A	c.(106-108)ccG>ccA	p.P36P	ABCG5_ENST00000260645.1_Silent_p.P431P|ABCG5_ENST00000405322.1_Silent_p.P260P			Q9H222	ABCG5_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 5	431					cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity	p.P431P(1)		breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				TGCCTGTGTACGGGGTGGCGC	0.537													14	19					0	0	1	0	0	T	44051083	C	T	44051083	2	4	81	1	0	0	0	0	0	0	0	1	71	523	19	1		1	ABCG5	2	44051083	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	70220	44051083	199148290	1811	5427											
ABCG5	64240	broad.mit.edu	37	2	44051213	44051213	+	Translation_Start_Site	SNP	G	G	A	rs149418765		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:44051213G>A	ENST00000543989.1	-	0	1683				ABCG5_ENST00000260645.1_Missense_Mutation_p.T388M|ABCG5_ENST00000405322.1_Missense_Mutation_p.T217M			Q9H222	ABCG5_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 5						cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity			breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				AAGGAGACGCGTAATCACTGC	0.458													15	30					0	0	1	0	0	A	44051213	G	A	44051213	1	1	81	1	0	0	0	0	0	0	0	0	71	1145	40	1		1	ABCG5	2	44051213	Translation_Start_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	130	44051213	199148160	1812	5428											
ABCG5	64240	broad.mit.edu	37	2	44053537	44053537	+	Missense_Mutation	SNP	C	C	T	rs148186696		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:44053537C>T	ENST00000260645.1	-	6	897	c.758G>A	c.(757-759)cGt>cAt	p.R253H	ABCG5_ENST00000543989.1_Intron|ABCG5_ENST00000405322.1_Intron	NM_022436.2	NP_071881.1	Q9H222	ABCG5_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 5	253	ABC transporter.				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity			breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				AAGCTCAGAACGGGGCTGGTG	0.537													21	32					0	0	1	0	0	T	44053537	C	T	44053537	3	4	81	1	0	0	0	0	1	0	0	0	71	536	19	1	1229	1	ABCG5	2	44053537	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2324	44053537	199145836	1813	5429											
ABCG8	64241	broad.mit.edu	37	2	44071654	44071654	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:44071654G>T	ENST00000272286.2	+	2	162	c.72G>T	c.(70-72)caG>caT	p.Q24H		NM_022437.2	NP_071882.1	Q9H221	ABCG8_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 8	24					cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				AGGGCCTCCAGGATAGATTGT	0.522													14	19					1.52009e-12	1.903e-12	1	1	0	T	44071654	G	T	44071654	3	4	81	1	0	0	0	0	1	0	0	0	72	991	35	4	78	4	ABCG8	2	44071654	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	18117	44071654	199127719	1814	5430											
ABCG8	64241	broad.mit.edu	37	2	44078951	44078951	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:44078951G>A	ENST00000272286.2	+	4	641	c.551G>A	c.(550-552)cGt>cAt	p.R184H		NM_022437.2	NP_071882.1	Q9H221	ABCG8_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 8	184	ABC transporter.		R -> H (in STSL).		cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity	p.R184H(1)|p.R184L(1)		NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				CAGGCCCAGCGTGACAAAAGG	0.622													21	53					0	0	1	0	0	A	44078951	G	A	44078951	3	1	81	1	0	0	0	0	1	0	0	0	72	1145	40	1	565	1	ABCG8	2	44078951	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	7297	44078951	199120422	1815	5431											
ABCG8	64241	broad.mit.edu	37	2	44104939	44104939	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:44104939T>C	ENST00000272286.2	+	13	1999	c.1909T>C	c.(1909-1911)Tcg>Ccg	p.S637P		NM_022437.2	NP_071882.1	Q9H221	ABCG8_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 8	637	ABC transmembrane type-2.				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				GGAGCTGGACTCGTACCCTCT	0.522											OREG0014582	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	25	36					0	0	1	0	0	C	44104939	T	C	44104939	3	2	81	1	0	0	0	0	1	0	0	0	72	1551	54	3	1959	3	ABCG8	2	44104939	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	25988	44104939	199094434	1816	5432											
LRPPRC	10128	broad.mit.edu	37	2	44173377	44173377	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:44173377C>T	ENST00000260665.7	-	21	2142	c.2085G>A	c.(2083-2085)atG>atA	p.M695I		NM_133259.3	NP_573566.2	P42704	LPPRC_HUMAN	leucine-rich pentatricopeptide repeat containing	695					mitochondrion transport along microtubule|mRNA transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	condensed nuclear chromosome|cytoskeleton|mitochondrial nucleoid|nuclear inner membrane|nuclear outer membrane|nucleoplasm|perinuclear region of cytoplasm	beta-tubulin binding|microtubule binding|RNA binding			breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2)	41		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				GGGCTTTTTGCATATTCTAAA	0.318													4	37					0	0	1	0	0	T	44173377	C	T	44173377	3	4	81	1	0	0	0	0	1	0	0	0	9010	710	25	2	2171	2	LRPPRC	2	44173377	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	68438	44173377	199025996	1817	5433											
LRPPRC	10128	broad.mit.edu	37	2	44209388	44209388	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:44209388G>A	ENST00000260665.7	-	2	392	c.335C>T	c.(334-336)aCc>aTc	p.T112I	LRPPRC_ENST00000409946.1_Missense_Mutation_p.T112I|LRPPRC_ENST00000409659.1_Missense_Mutation_p.T112I	NM_133259.3	NP_573566.2	P42704	LPPRC_HUMAN	leucine-rich pentatricopeptide repeat containing	112					mitochondrion transport along microtubule|mRNA transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	condensed nuclear chromosome|cytoskeleton|mitochondrial nucleoid|nuclear inner membrane|nuclear outer membrane|nucleoplasm|perinuclear region of cytoplasm	beta-tubulin binding|microtubule binding|RNA binding			breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2)	41		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				TGAGCGGCAGGTATCATTAAA	0.428													30	38					0	0	1	0	0	A	44209388	G	A	44209388	3	1	81	1	0	0	0	0	1	0	0	0	9010	1261	44	2	3997	2	LRPPRC	2	44209388	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	36011	44209388	198989985	1818	5434											
SLC3A1	6519	broad.mit.edu	37	2	44528205	44528205	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:44528205G>A	ENST00000260649.6	+	6	1151	c.1075G>A	c.(1075-1077)Gac>Aac	p.D359N	SLC3A1_ENST00000410056.3_Missense_Mutation_p.D359N|SLC3A1_ENST00000409380.1_Missense_Mutation_p.D81N|SLC3A1_ENST00000409229.3_Missense_Mutation_p.D359N|SLC3A1_ENST00000409294.1_Intron|SLC3A1_ENST00000409387.1_Missense_Mutation_p.D359N|SLC3A1_ENST00000409741.1_Missense_Mutation_p.D359N	NM_000341.3	NP_000332.2	Q07837	SLC31_HUMAN	solute carrier family 3 (amino acid transporter heavy chain), member 1	359					carbohydrate metabolic process|cellular amino acid metabolic process|ion transport	integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity|catalytic activity|cation binding|L-cystine transmembrane transporter activity			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(3)	26		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)			L-Cystine(DB00138)	GGGAATGCACGACATTGTCCG	0.532													16	14					0	0	1	0	0	A	44528205	G	A	44528205	3	1	81	1	0	0	0	0	1	0	0	0	14681	1058	37	1	1097	1	SLC3A1	2	44528205	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	318817	44528205	198671168	1819	5435											
SRBD1	55133	broad.mit.edu	37	2	45780832	45780832	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:45780832T>G	ENST00000263736.4	-	11	1509	c.1447A>C	c.(1447-1449)Aag>Cag	p.K483Q	SRBD1_ENST00000535761.1_Missense_Mutation_p.K2Q	NM_018079.4	NP_060549.4	Q8N5C6	SRBD1_HUMAN	S1 RNA binding domain 1	483					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		hydrolase activity, acting on ester bonds|RNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(13)|large_intestine(8)|lung(15)|skin(2)|stomach(1)|urinary_tract(1)	49		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)			TATAAGATCTTCATTAACTCT	0.358													4	54					0	0	1	0	0	G	45780832	T	G	45780832	3	3	81	1	0	0	0	0	1	0	0	0	15189	1792	62	5	1584	5	SRBD1	2	45780832	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	1252627	45780832	197418541	1820	5436											
SRBD1	55133	broad.mit.edu	37	2	45800362	45800362	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:45800362T>G	ENST00000263736.4	-	9	1351	c.1289A>C	c.(1288-1290)aAc>aCc	p.N430T		NM_018079.4	NP_060549.4	Q8N5C6	SRBD1_HUMAN	S1 RNA binding domain 1	430					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		hydrolase activity, acting on ester bonds|RNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(13)|large_intestine(8)|lung(15)|skin(2)|stomach(1)|urinary_tract(1)	49		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)			ATGGTGAATGTTTCTTATGTT	0.333													17	23					0	0	1	0	0	G	45800362	T	G	45800362	3	3	81	1	0	0	0	0	1	0	0	0	15189	1725	60	5	1750	5	SRBD1	2	45800362	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	19530	45800362	197399011	1821	5437											
PRKCE	5581	broad.mit.edu	37	2	46386777	46386777	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:46386777C>T	ENST00000306156.3	+	14	2280	c.1953C>T	c.(1951-1953)ggC>ggT	p.G651G		NM_005400.2	NP_005391.1	Q02156	KPCE_HUMAN	protein kinase C, epsilon	651	Protein kinase.				activation of phospholipase C activity|induction of apoptosis|intracellular signal transduction|nerve growth factor receptor signaling pathway|platelet activation	cytosol|endoplasmic reticulum|plasma membrane	ATP binding|enzyme activator activity|metal ion binding|signal transducer activity		MBOAT2/PRKCE(2)	breast(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(13)|ovary(3)|upper_aerodigestive_tract(2)	34		all_hematologic(82;0.155)|Acute lymphoblastic leukemia(82;0.209)	LUSC - Lung squamous cell carcinoma(58;0.171)			AGCGCCTGGGCTGTGTGGCAT	0.547													27	64					0	0	1	0	0	T	46386777	C	T	46386777	2	4	81	1	0	0	0	0	0	0	0	1	12563	784	28	2		2	PRKCE	2	46386777	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	586415	46386777	196812596	1822	5438											
EPAS1	2034	broad.mit.edu	37	2	46603893	46603893	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:46603893G>A	ENST00000263734.3	+	9	1759		c.e9+1			NM_001430.4	NP_001421.2	Q99814	EPAS1_HUMAN	endothelial PAS domain protein 1						angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia	transcription factor complex	histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding	p.?(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)			CTGGATTTCGGTGGGTGCTTC	0.562													32	51					0	0	1	0	0	A	46603893	G	A	46603893	5	1	81	1	0	0	0	0	0	0	1	0	5178	1275	44	2	1284	2	EPAS1	2	46603893	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	217116	46603893	196595480	1823	5439											
ATP6V1E2	90423	broad.mit.edu	37	2	46739186	46739186	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:46739186C>A	ENST00000306448.4	-	2	1778	c.665G>T	c.(664-666)aGa>aTa	p.R222I	ATP6V1E2_ENST00000522587.1_Missense_Mutation_p.R222I	NM_080653.3	NP_542384.1	Q96A05	VATE2_HUMAN	ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E2	222					cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|proton-transporting two-sector ATPase complex, catalytic domain	proton-transporting ATPase activity, rotational mechanism			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)	13		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.151)			AAAGAACTTTCTGTTGGTGTT	0.393													26	48					2.12542e-12	2.65769e-12	1	1	0	A	46739186	C	A	46739186	3	1	81	1	0	0	0	0	1	0	0	0	1182	913	32	4	19	4	ATP6V1E2	2	46739186	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	135293	46739186	196460187	1824	5440											
ATP6V1E2	90423	broad.mit.edu	37	2	46739757	46739757	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:46739757C>T	ENST00000306448.4	-	2	1207	c.94G>A	c.(94-96)Gcc>Acc	p.A32T	ATP6V1E2_ENST00000522587.1_Missense_Mutation_p.A32T	NM_080653.3	NP_542384.1	Q96A05	VATE2_HUMAN	ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E2	32					cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|proton-transporting two-sector ATPase complex, catalytic domain	proton-transporting ATPase activity, rotational mechanism			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)	13		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.151)			TCAGCCTTGGCATCGATTTCC	0.448													39	51					0	0	1	0	0	T	46739757	C	T	46739757	3	4	81	1	0	0	0	0	1	0	0	0	1182	710	25	2	590	2	ATP6V1E2	2	46739757	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	571	46739757	196459616	1825	5441											
CRIPT	9419	broad.mit.edu	37	2	46850956	46850956	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:46850956C>T	ENST00000238892.3	+	4	323	c.191C>T	c.(190-192)tCt>tTt	p.S64F	CRIPT_ENST00000486447.1_3'UTR	NM_014171.4	NP_054890.1	Q9P021	CRIPT_HUMAN	cysteine-rich PDZ-binding protein	64						cell junction|cytoplasm|dendritic spine				kidney(1)|large_intestine(1)|lung(2)	4		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.114)			TGTAAAAGTTCTGTGCACCAA	0.328													18	35					0	0	1	0	0	T	46850956	C	T	46850956	3	4	81	1	0	0	0	0	1	0	0	0	3901	913	32	2	205	2	CRIPT	2	46850956	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	111199	46850956	196348417	1826	5442											
SOCS5	9655	broad.mit.edu	37	2	46986948	46986948	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:46986948C>T	ENST00000306503.5	+	2	1451	c.1279C>T	c.(1279-1281)Cat>Tat	p.H427Y	SOCS5_ENST00000394861.2_Missense_Mutation_p.H427Y	NM_014011.4	NP_054730.1	O75159	SOCS5_HUMAN	suppressor of cytokine signaling 5	427	SH2.				cell growth|cytokine-mediated signaling pathway|intracellular signal transduction|negative regulation of signal transduction|negative regulation of T-helper 2 cell differentiation|positive regulation of T-helper 1 cell differentiation|regulation of growth					breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(9)|ovary(2)	22		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.114)			CAGATCCCTGCATGCCCGAAT	0.498													5	100					0	0	1	0	0	T	46986948	C	T	46986948	3	4	81	1	0	0	0	0	1	0	0	0	14971	710	25	2	1281	2	SOCS5	2	46986948	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	135992	46986948	196212425	1827	5443											
TTC7A	57217	broad.mit.edu	37	2	47184094	47184094	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:47184094G>A	ENST00000319190.5	+	3	833	c.465G>A	c.(463-465)gaG>gaA	p.E155E	TTC7A_ENST00000263737.6_5'UTR|TTC7A_ENST00000394850.2_Silent_p.E155E|TTC7A_ENST00000461601.1_3'UTR|TTC7A_ENST00000409245.1_Silent_p.E121E	NM_020458.2	NP_065191.2	Q9ULT0	TTC7A_HUMAN	tetratricopeptide repeat domain 7A	155							binding			breast(4)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)			TGTCCATGGAGAACAAGCCCC	0.577													23	33					0	0	1	0	0	A	47184094	G	A	47184094	2	1	81	1	0	0	0	0	0	0	0	1	16774	933	33	2		2	TTC7A	2	47184094	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	197146	47184094	196015279	1828	5444											
MSH2	4436	broad.mit.edu	37	2	47643491	47643492	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:47643491_47643492insA	ENST00000406134.1	+	6	1061_1062	c.999_1000insA	c.(1000-1002)aaafs	p.K334fs	MSH2_ENST00000543555.1_Frame_Shift_Ins_p.K268fs|MSH2_ENST00000233146.2_Frame_Shift_Ins_p.K334fs			P43246	MSH2_HUMAN	mutS homolog 2	334					B cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|double-strand break repair|intra-S DNA damage checkpoint|isotype switching|maintenance of DNA repeat elements|male gonad development|meiotic gene conversion|meiotic mismatch repair|negative regulation of neuron apoptosis|negative regulation of reciprocal meiotic recombination|positive regulation of helicase activity|postreplication repair|response to UV-B|response to X-ray|somatic hypermutation of immunoglobulin genes	MutSalpha complex|MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|guanine/thymine mispair binding|loop DNA binding|protein C-terminus binding|protein homodimerization activity|protein kinase binding|Y-form DNA binding	p.0?(2)|p.?(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(5)|large_intestine(50)|lung(18)|ovary(5)|prostate(2)|skin(3)|small_intestine(1)|stomach(2)|urinary_tract(1)	112		all_hematologic(82;0.0359)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TGAATAAGTGTAAAACCCCTCA	0.391			"D, Mis, N, F, S"		"colorectal, endometrial, ovarian"	"colorectal, endometrial, ovarian"		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				16	130	---	---	---	---						A	47643492	-	A	47643491	7	5	81	1	0	1	1	0	0	0	0	0	9919	1644	57	0	1021	0	MSH2	2	47643491	Frame_Shift_Ins	INS	-	TCGA-DU-6392-01A-11D-1705-08	459397	47643491	195555882	1829	5445											
MSH6	2956	broad.mit.edu	37	2	48010413	48010413	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:48010413C>A	ENST00000234420.5	+	1	193	c.41C>A	c.(40-42)tCt>tAt	p.S14Y	MSH6_ENST00000540021.1_Missense_Mutation_p.S14Y	NM_000179.2	NP_000170.1	P52701	MSH6_HUMAN	mutS homolog 6						determination of adult lifespan|DNA damage response, signal transduction resulting in induction of apoptosis|isotype switching|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|response to UV|somatic hypermutation of immunoglobulin genes	MutSalpha complex	ATP binding|DNA-dependent ATPase activity|protein binding	p.0?(2)		breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	229		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TTCCCCAAGTCTCCGGCGCTG	0.672			"Mis, N, F, S"		colorectal	"colorectal, endometrial, ovarian"		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				9	31					0.000442599	0.000477972	1	1	0	A	48010413	C	A	48010413	3	1	81	1	0	0	0	0	1	0	0	0	9923	913	32	4	43	4	MSH6	2	48010413	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	366922	48010413	195188960	1830	5446											
MSH6	2956	broad.mit.edu	37	2	48026290	48026290	+	Missense_Mutation	SNP	G	G	A	rs147737737		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:48026290G>A	ENST00000234420.5	+	4	1320	c.1168G>A	c.(1168-1170)Gat>Aat	p.D390N	FBXO11_ENST00000405808.1_Intron|MSH6_ENST00000538136.1_Missense_Mutation_p.D88N|MSH6_ENST00000540021.1_Missense_Mutation_p.D260N	NM_000179.2	NP_000170.1	P52701	MSH6_HUMAN	mutS homolog 6						determination of adult lifespan|DNA damage response, signal transduction resulting in induction of apoptosis|isotype switching|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|response to UV|somatic hypermutation of immunoglobulin genes	MutSalpha complex	ATP binding|DNA-dependent ATPase activity|protein binding	p.0?(2)|p.D390N(1)		breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	229		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TGATCACCCCGATTTTGATGC	0.448			"Mis, N, F, S"		colorectal	"colorectal, endometrial, ovarian"		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				9	68					0	0	1	0	0	A	48026290	G	A	48026290	3	1	81	1	0	0	0	0	1	0	0	0	9923	1058	37	1	1182	1	MSH6	2	48026290	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	15877	48026290	195173083	1831	5447											
MSH6	2956	broad.mit.edu	37	2	48027090	48027090	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:48027090C>A	ENST00000234420.5	+	4	2120	c.1968C>A	c.(1966-1968)ccC>ccA	p.P656P	FBXO11_ENST00000405808.1_Intron|MSH6_ENST00000538136.1_Silent_p.P354P|MSH6_ENST00000540021.1_Silent_p.P526P	NM_000179.2	NP_000170.1	P52701	MSH6_HUMAN	mutS homolog 6						determination of adult lifespan|DNA damage response, signal transduction resulting in induction of apoptosis|isotype switching|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|response to UV|somatic hypermutation of immunoglobulin genes	MutSalpha complex	ATP binding|DNA-dependent ATPase activity|protein binding	p.0?(2)		breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	229		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TGATGTTACCCCAGGTGCTTA	0.463			"Mis, N, F, S"		colorectal	"colorectal, endometrial, ovarian"		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				13	175					4.3838e-07	5.09097e-07	1	1	0	A	48027090	C	A	48027090	2	1	81	1	0	0	0	0	0	0	0	1	9923	610	22	5		5	MSH6	2	48027090	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	800	48027090	195172283	1832	5448											
MSH6	2956	broad.mit.edu	37	2	48030802	48030802	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:48030802G>A	ENST00000234420.5	+	5	3568	c.3416G>A	c.(3415-3417)gGc>gAc	p.G1139D	FBXO11_ENST00000405808.1_Intron|MSH6_ENST00000538136.1_Missense_Mutation_p.G837D|MSH6_ENST00000540021.1_Missense_Mutation_p.G1009D	NM_000179.2	NP_000170.1	P52701	MSH6_HUMAN	mutS homolog 6						determination of adult lifespan|DNA damage response, signal transduction resulting in induction of apoptosis|isotype switching|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|response to UV|somatic hypermutation of immunoglobulin genes	MutSalpha complex	ATP binding|DNA-dependent ATPase activity|protein binding	p.0?(2)		breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	229		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			AATATGGGGGGCAAGTCTACG	0.378			"Mis, N, F, S"		colorectal	"colorectal, endometrial, ovarian"		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				48	65					0	0	1	0	0	A	48030802	G	A	48030802	3	1	81	1	0	0	0	0	1	0	0	0	9923	1203	42	2	3434	2	MSH6	2	48030802	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	3712	48030802	195168571	1833	5449											
FOXN2	3344	broad.mit.edu	37	2	48573609	48573609	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:48573609T>C	ENST00000340553.3	+	3	517	c.256T>C	c.(256-258)Tat>Cat	p.Y86H		NM_002158.3	NP_002149.2	P32314	FOXN2_HUMAN	forkhead box N2	86					embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	13		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.0272)|LUSC - Lung squamous cell carcinoma(58;0.036)			TAGTCCATTGTATGACATAGA	0.433													32	49					0	0	1	0	0	C	48573609	T	C	48573609	3	2	81	1	0	0	0	0	1	0	0	0	6054	1638	57	3	258	3	FOXN2	2	48573609	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	542807	48573609	194625764	1834	5450											
FOXN2	3344	broad.mit.edu	37	2	48602108	48602108	+	Silent	SNP	C	C	T	rs144420824	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:48602108C>T	ENST00000340553.3	+	7	1083	c.822C>T	c.(820-822)taC>taT	p.Y274Y		NM_002158.3	NP_002149.2	P32314	FOXN2_HUMAN	forkhead box N2	274					embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	13		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.0272)|LUSC - Lung squamous cell carcinoma(58;0.036)			AGAGGAGTTACGGCAATGCAT	0.388													15	23					0	0	1	0	0	T	48602108	C	T	48602108	2	4	81	1	0	0	0	0	0	0	0	1	6054	547	19	1		1	FOXN2	2	48602108	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	28499	48602108	194597265	1835	5451											
FOXN2	3344	broad.mit.edu	37	2	48602548	48602548	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:48602548C>A	ENST00000340553.3	+	7	1523	c.1262C>A	c.(1261-1263)gCa>gAa	p.A421E		NM_002158.3	NP_002149.2	P32314	FOXN2_HUMAN	forkhead box N2	421					embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	13		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.0272)|LUSC - Lung squamous cell carcinoma(58;0.036)			ATAAGTACTGCAAAGACACAA	0.383													9	14					0.000274275	0.000297259	1	1	0	A	48602548	C	A	48602548	3	1	81	1	0	0	0	0	1	0	0	0	6054	710	25	5	1280	5	FOXN2	2	48602548	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	440	48602548	194596825	1836	5452											
STON1	11037	broad.mit.edu	37	2	48808411	48808411	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:48808411G>A	ENST00000309835.3	+	1	649	c.639G>A	c.(637-639)gaG>gaA	p.E213E	STON1-GTF2A1L_ENST00000405008.1_Silent_p.E213E|STON1-GTF2A1L_ENST00000402114.2_Silent_p.E213E|STON1-GTF2A1L_ENST00000309827.2_Silent_p.E213E|STON1-GTF2A1L_ENST00000394751.3_Silent_p.E213E|STON1_ENST00000404752.1_Silent_p.E213E|STON1-GTF2A1L_ENST00000394754.1_Silent_p.E213E|STON1_ENST00000406226.1_Silent_p.E213E					stonin 1											NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(19)|prostate(3)|skin(2)	37		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			GAAACAAGGAGATGCCTATTG	0.408													23	36					0	0	1	0	0	A	48808411	G	A	48808411	2	1	81	1	0	0	0	0	0	0	0	1	15372	933	33	2		2	STON1	2	48808411	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	205863	48808411	194390962	1837	5453											
STON1	11037	broad.mit.edu	37	2	48809188	48809188	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:48809188G>T	ENST00000309835.3	+	1	1426	c.1416G>T	c.(1414-1416)gaG>gaT	p.E472D	STON1-GTF2A1L_ENST00000405008.1_Missense_Mutation_p.E472D|STON1-GTF2A1L_ENST00000402114.2_Missense_Mutation_p.E472D|STON1-GTF2A1L_ENST00000309827.2_Missense_Mutation_p.E472D|STON1-GTF2A1L_ENST00000394751.3_Missense_Mutation_p.E472D|STON1_ENST00000404752.1_Missense_Mutation_p.E472D|STON1-GTF2A1L_ENST00000394754.1_Missense_Mutation_p.E472D|STON1_ENST00000406226.1_Missense_Mutation_p.E472D					stonin 1											NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(19)|prostate(3)|skin(2)	37		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			CCTATTATGAGAAGGACTCAG	0.358													42	65					2.35958e-20	3.08171e-20	1	1	0	T	48809188	G	T	48809188	3	4	81	1	0	0	0	0	1	0	0	0	15372	933	33	4	1418	4	STON1	2	48809188	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	777	48809188	194390185	1838	5454											
STON1-GTF2A1L	286749	broad.mit.edu	37	2	48872236	48872236	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:48872236T>C	ENST00000394754.1	+	7	2594	c.2480T>C	c.(2479-2481)gTg>gCg	p.V827A	STON1-GTF2A1L_ENST00000405008.1_Missense_Mutation_p.V827A|STON1-GTF2A1L_ENST00000402114.2_Missense_Mutation_p.V827A|STON1-GTF2A1L_ENST00000309827.2_Missense_Mutation_p.V827A|LHCGR_ENST00000420913.3_Intron|STON1-GTF2A1L_ENST00000394751.3_Intron|GTF2A1L_ENST00000468326.1_3'UTR|GTF2A1L_ENST00000430487.2_Missense_Mutation_p.V89A|GTF2A1L_ENST00000403751.3_Missense_Mutation_p.V123A	NM_172311.2	NP_758515.1	B7ZL16	B7ZL16_HUMAN		786					endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter	clathrin adaptor complex|transcription factor TFIIA complex				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(22)|liver(2)|lung(49)|ovary(3)|pancreas(1)|prostate(4)|skin(4)	91		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			CCAGCAGGTGTGACACTACAG	0.323													3	39					0	0	1	0	0	C	48872236	T	C	48872236	3	2	81	1	0	0	0	0	1	0	0	0	15373	1696	59	3	2502	3	STON1-GTF2A1L	2	48872236	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	63048	48872236	194327137	1839	5455											
LHCGR	3973	broad.mit.edu	37	2	48936113	48936113	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:48936113G>A	ENST00000294954.7	-	8	675	c.654C>T	c.(652-654)ttC>ttT	p.F218F	STON1-GTF2A1L_ENST00000402114.2_Intron|LHCGR_ENST00000344775.3_Silent_p.F218F|LHCGR_ENST00000405626.1_Silent_p.F218F|LHCGR_ENST00000401907.1_Silent_p.F218F|LHCGR_ENST00000403273.1_Silent_p.F218F	NM_000233.3	NP_000224.2	P22888	LSHR_HUMAN	luteinizing hormone/choriogonadotropin receptor	218					male genitalia development|male gonad development	endosome|integral to plasma membrane	luteinizing hormone receptor activity			NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	56		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)	TGGCCCCACGGAAGGCTCCAT	0.537													41	69					0	0	1	0	0	A	48936113	G	A	48936113	2	1	81	1	0	0	0	0	0	0	0	1	8802	1165	41	2		2	LHCGR	2	48936113	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	63877	48936113	194263260	1840	5456											
FSHR	2492	broad.mit.edu	37	2	49190103	49190103	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:49190103G>T	ENST00000406846.2	-	10	1976	c.1857C>A	c.(1855-1857)tcC>tcA	p.S619S	FSHR_ENST00000304421.4_Silent_p.S593S|FSHR_ENST00000346173.3_Silent_p.S557S|FSHR_ENST00000541117.1_Silent_p.S355S	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	619					female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)	GGTTGGCACAGGAGTTGATGG	0.473									Gonadal Dysgenesis, 46 XX				23	22					2.27731e-05	2.54564e-05	1	1	0	T	49190103	G	T	49190103	2	4	81	1	0	0	0	0	0	0	0	1	6108	987	35	4		4	FSHR	2	49190103	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	253990	49190103	194009270	1841	5457											
FSHR	2492	broad.mit.edu	37	2	49190357	49190357	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:49190357G>T	ENST00000406846.2	-	10	1722	c.1603C>A	c.(1603-1605)Ctt>Att	p.L535I	FSHR_ENST00000304421.4_Missense_Mutation_p.L509I|FSHR_ENST00000346173.3_Missense_Mutation_p.L473I|FSHR_ENST00000541117.1_Missense_Mutation_p.L271I	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	535					female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)	TTGAGCACAAGGAGGGACATG	0.517									Gonadal Dysgenesis, 46 XX				12	14					1.5842e-08	1.88841e-08	1	1	0	T	49190357	G	T	49190357	3	4	81	1	0	0	0	0	1	0	0	0	6108	1000	35	4	488	4	FSHR	2	49190357	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	254	49190357	194009016	1842	5458											
FSHR	2492	broad.mit.edu	37	2	49195866	49195866	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:49195866G>A	ENST00000406846.2	-	9	944	c.825C>T	c.(823-825)tgC>tgT	p.C275C	FSHR_ENST00000304421.4_Silent_p.C249C|FSHR_ENST00000346173.3_Intron|FSHR_ENST00000541117.1_Silent_p.C11C	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	275					female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)	CAAAGGCACAGCAATGGCTGG	0.493									Gonadal Dysgenesis, 46 XX				17	28					0	0	1	0	0	A	49195866	G	A	49195866	2	1	81	1	0	0	0	0	0	0	0	1	6108	963	34	2		2	FSHR	2	49195866	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	5509	49195866	194003507	1843	5459											
NRXN1	9378	broad.mit.edu	37	2	50149183	50149183	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:50149183A>G	ENST00000404971.1	-	24	5882	c.4543T>C	c.(4543-4545)Tca>Cca	p.S1515P	NRXN1_ENST00000401669.2_Missense_Mutation_p.S1475P|NRXN1_ENST00000342183.5_Missense_Mutation_p.S410P|NRXN1_ENST00000406859.3_Missense_Mutation_p.S1445P|NRXN1_ENST00000401710.1_Missense_Mutation_p.S463P|NRXN1_ENST00000402717.3_Missense_Mutation_p.S1467P|NRXN1_ENST00000405472.3_Missense_Mutation_p.S1467P|NRXN1_ENST00000406316.2_Missense_Mutation_p.S1445P	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	1445					adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			GACTGTGCTGAGTTACTGATG	0.448													27	58					0	0	1	0	0	G	50149183	A	G	50149183	3	3	81	1	0	0	0	0	1	0	0	0	10713	304	11	3	104	3	NRXN1	2	50149183	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	953317	50149183	193050190	1844	5460											
NRXN1	9378	broad.mit.edu	37	2	50850457	50850457	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:50850457G>A	ENST00000404971.1	-	7	2567	c.1228C>T	c.(1228-1230)Cgt>Tgt	p.R410C	NRXN1_ENST00000401669.2_Missense_Mutation_p.R377C|NRXN1_ENST00000406859.3_Missense_Mutation_p.R377C|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000402717.3_Missense_Mutation_p.R377C|NRXN1_ENST00000405472.3_Missense_Mutation_p.R377C|NRXN1_ENST00000406316.2_Missense_Mutation_p.R377C	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	377	Laminin G-like 2.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			GTTACCTGACGCAGATTCCTG	0.443													10	18					0	0	1	0	0	A	50850457	G	A	50850457	3	1	81	1	0	0	0	0	1	0	0	0	10713	1087	38	1	3750	1	NRXN1	2	50850457	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	701274	50850457	192348916	1845	5461											
NRXN1	9378	broad.mit.edu	37	2	51254898	51254898	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:51254898C>T	ENST00000404971.1	-	2	1853	c.514G>A	c.(514-516)Gcc>Acc	p.A172T	NRXN1_ENST00000405581.1_Missense_Mutation_p.A172T|NRXN1_ENST00000401669.2_Missense_Mutation_p.A172T|NRXN1_ENST00000406859.3_Missense_Mutation_p.A172T|NRXN1_ENST00000402717.3_Missense_Mutation_p.A172T|NRXN1_ENST00000405472.3_Missense_Mutation_p.A172T|NRXN1_ENST00000406316.2_Missense_Mutation_p.A172T	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	172	Laminin G-like 1.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			CTCACCGAGGCCAGGGTGAGC	0.677													7	6					0	0	1	0	0	T	51254898	C	T	51254898	3	4	81	1	0	0	0	0	1	0	0	0	10713	739	26	2	4484	2	NRXN1	2	51254898	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	404441	51254898	191944475	1846	5462											
NRXN1	9378	broad.mit.edu	37	2	51254960	51254960	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:51254960C>A	ENST00000404971.1	-	2	1791	c.452G>T	c.(451-453)aGc>aTc	p.S151I	NRXN1_ENST00000405581.1_Missense_Mutation_p.S151I|NRXN1_ENST00000401669.2_Missense_Mutation_p.S151I|NRXN1_ENST00000406859.3_Missense_Mutation_p.S151I|NRXN1_ENST00000402717.3_Missense_Mutation_p.S151I|NRXN1_ENST00000405472.3_Missense_Mutation_p.S151I|NRXN1_ENST00000406316.2_Missense_Mutation_p.S151I	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	151	Laminin G-like 1.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			GAAAAGGCCGCTGAACACCGT	0.672													4	16					1	1	1	1	0	A	51254960	C	A	51254960	3	1	81	1	0	0	0	0	1	0	0	0	10713	797	28	4	4546	4	NRXN1	2	51254960	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	62	51254960	191944413	1847	5463											
ERLEC1	27248	broad.mit.edu	37	2	54021567	54021567	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:54021567T>C	ENST00000185150.4	+	2	379	c.248T>C	c.(247-249)cTt>cCt	p.L83P	ERLEC1_ENST00000405123.3_Missense_Mutation_p.L83P|ERLEC1_ENST00000378239.5_Missense_Mutation_p.L83P|GPR75-ASB3_ENST00000352846.3_Intron|ASB3_ENST00000498475.2_Intron|ASB3_ENST00000406625.2_Intron	NM_015701.4	NP_056516.2	Q96DZ1	ERLEC_HUMAN	endoplasmic reticulum lectin 1	83					ER-associated protein catabolic process	endoplasmic reticulum lumen	glycoprotein binding|protein binding			endometrium(2)|large_intestine(4)|lung(8)|ovary(2)|stomach(1)|urinary_tract(1)	18						ATACTTCCCCTTGTGACAAGT	0.294													17	12					0	0	1	0	0	C	54021567	T	C	54021567	3	2	81	1	0	0	0	0	1	0	0	0	5259	1609	56	3	254	3	ERLEC1	2	54021567	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	2766607	54021567	189177806	1848	5464											
GPR75	10936	broad.mit.edu	37	2	54081849	54081849	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:54081849C>T	ENST00000394705.2	-	2	315	c.45G>A	c.(43-45)tcG>tcA	p.S15S	GPR75-ASB3_ENST00000352846.3_Intron|ASB3_ENST00000498475.2_Intron|ASB3_ENST00000406625.2_Intron	NM_006794.3	NP_006785.1	O95800	GPR75_HUMAN	G protein-coupled receptor 75	15						integral to plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			GCACATGGAGCGAGGTGGCAT	0.522													35	81					0	0	1	0	0	T	54081849	C	T	54081849	2	4	81	1	0	0	0	0	0	0	0	1	6748	755	27	1		1	GPR75	2	54081849	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	60282	54081849	189117524	1849	5465											
PSME4	23198	broad.mit.edu	37	2	54163276	54163276	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:54163276C>T	ENST00000404125.1	-	7	837	c.782G>A	c.(781-783)cGa>cAa	p.R261Q	PSME4_ENST00000421748.2_Intron	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4	261					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			TGTAGCCAATCGAGCAAAGAG	0.358													36	69					0	0	1	0	0	T	54163276	C	T	54163276	3	4	81	1	0	0	0	0	1	0	0	0	12758	884	31	1	4909	1	PSME4	2	54163276	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	81427	54163276	189036097	1850	5466											
SPTBN1	6711	broad.mit.edu	37	2	54845255	54845255	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:54845255G>A	ENST00000333896.5	+	6	1034	c.649G>A	c.(649-651)Gca>Aca	p.A217T	SPTBN1_ENST00000356805.4_Missense_Mutation_p.A230T	NM_178313.2	NP_842565.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	230	Actin-binding.|CH 2.				actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			GAAATCTAACGCACACTACAA	0.438													15	51					0	0	1	0	0	A	54845255	G	A	54845255	3	1	81	1	0	0	0	0	1	0	0	0	15175	1087	38	1	823	1	SPTBN1	2	54845255	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	681979	54845255	188354118	1851	5467											
SPTBN1	6711	broad.mit.edu	37	2	54849603	54849603	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:54849603G>A	ENST00000333896.5	+	8	1389	c.1004G>A	c.(1003-1005)cGc>cAc	p.R335H	SPTBN1_ENST00000356805.4_Missense_Mutation_p.R348H	NM_178313.2	NP_842565.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	348					actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			AACACTTACCGCACTGTGGAG	0.423													29	59					0	0	1	0	0	A	54849603	G	A	54849603	3	1	81	1	0	0	0	0	1	0	0	0	15175	1087	38	1	1186	1	SPTBN1	2	54849603	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	4348	54849603	188349770	1852	5468											
SPTBN1	6711	broad.mit.edu	37	2	54858298	54858298	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:54858298C>T	ENST00000333896.5	+	15	3460	c.3075C>T	c.(3073-3075)gcC>gcT	p.A1025A	SPTBN1_ENST00000356805.4_Silent_p.A1038A	NM_178313.2	NP_842565.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	1038					actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			CTCGGCTGGCCGAGATCAGCG	0.627													23	49					0	0	1	0	0	T	54858298	C	T	54858298	2	4	81	1	0	0	0	0	0	0	0	1	15175	639	23	1		1	SPTBN1	2	54858298	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	8695	54858298	188341075	1853	5469											
SPTBN1	6711	broad.mit.edu	37	2	54874343	54874343	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:54874343G>A	ENST00000333896.5	+	23	5288	c.4903G>A	c.(4903-4905)Gtg>Atg	p.V1635M	SPTBN1_ENST00000356805.4_Missense_Mutation_p.V1648M	NM_178313.2	NP_842565.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	1648	Interaction with ANK2.				actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			TGCAGAGACCGTGCATCAGCT	0.547													12	76					0	0	1	0	0	A	54874343	G	A	54874343	3	1	81	1	0	0	0	0	1	0	0	0	15175	1145	40	1	5145	1	SPTBN1	2	54874343	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	16045	54874343	188325030	1854	5470											
SPTBN1	6711	broad.mit.edu	37	2	54876139	54876139	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:54876139C>T	ENST00000333896.5	+	24	5360	c.4975C>T	c.(4975-4977)Cgg>Tgg	p.R1659W	SPTBN1_ENST00000356805.4_Missense_Mutation_p.R1672W	NM_178313.2	NP_842565.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	1672	Interaction with ANK2.				actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			CATTAGCATGCGGCAGTCCAA	0.448													11	12					0	0	1	0	0	T	54876139	C	T	54876139	3	4	81	1	0	0	0	0	1	0	0	0	15175	759	27	1	5221	1	SPTBN1	2	54876139	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1796	54876139	188323234	1855	5471											
SPTBN1	6711	broad.mit.edu	37	2	54885015	54885015	+	Silent	SNP	C	C	T	rs144327595	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:54885015C>T	ENST00000333896.5	+	29	6421	c.6036C>T	c.(6034-6036)gaC>gaT	p.D2012D	SPTBN1_ENST00000356805.4_Silent_p.D2025D	NM_178313.2	NP_842565.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	2025	Interaction with ANK2.				actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			TCTCAAGAGACGCCAGTGTGG	0.587											OREG0014619	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	32					0	0	1	0	0	T	54885015	C	T	54885015	2	4	81	1	0	0	0	0	0	0	0	1	15175	535	19	1		1	SPTBN1	2	54885015	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	8876	54885015	188314358	1856	5472											
SPTBN1	6711	broad.mit.edu	37	2	54886386	54886386	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:54886386C>T	ENST00000333896.5	+	30	6685	c.6300C>T	c.(6298-6300)gcC>gcT	p.A2100A	SPTBN1_ENST00000356805.4_Silent_p.A2113A	NM_178313.2	NP_842565.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	2113					actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			CAGAGGAAGCCGAGTCCCAGC	0.582													73	98					0	0	1	0	0	T	54886386	C	T	54886386	2	4	81	1	0	0	0	0	0	0	0	1	15175	639	23	1		1	SPTBN1	2	54886386	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1371	54886386	188312987	1857	5473											
CCDC88A	55704	broad.mit.edu	37	2	55523586	55523586	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:55523586C>A	ENST00000436346.1	-	30	5740	c.4899G>T	c.(4897-4899)gaG>gaT	p.E1633D	CCDC88A_ENST00000263630.8_Missense_Mutation_p.E1605D|CCDC88A_ENST00000422883.2_Missense_Mutation_p.E134D|CCDC88A_ENST00000413716.2_Missense_Mutation_p.E1632D|CCDC88A_ENST00000336838.6_Missense_Mutation_p.E1632D	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A	1633					activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade	cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						TGGACCAAGCCTCATGGTCAT	0.478													8	71					0.00448238	0.00470627	1	1	0	A	55523586	C	A	55523586	3	1	81	1	0	0	0	0	1	0	0	0	2883	680	24	4	728	4	CCDC88A	2	55523586	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	637200	55523586	187675787	1858	5474											
CCDC88A	55704	broad.mit.edu	37	2	55544839	55544839	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:55544839A>G	ENST00000436346.1	-	20	4304	c.3463T>C	c.(3463-3465)Tct>Cct	p.S1155P	CCDC88A_ENST00000263630.8_Missense_Mutation_p.S1155P|AC012358.8_ENST00000608103.1_RNA|AC012358.8_ENST00000599352.1_RNA|AC012358.8_ENST00000599475.1_RNA|CCDC88A_ENST00000413716.2_Missense_Mutation_p.S1154P|CCDC88A_ENST00000336838.6_Missense_Mutation_p.S1154P|AC012358.8_ENST00000594078.1_RNA|AC012358.8_ENST00000600219.1_RNA	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A	1155					activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade	cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						TTGATCAGAGAATCATAGAGA	0.393													13	124					0	0	1	0	0	G	55544839	A	G	55544839	3	3	81	1	0	0	0	0	1	0	0	0	2883	246	9	3	2204	3	CCDC88A	2	55544839	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	21253	55544839	187654534	1859	5475											
CCDC88A	55704	broad.mit.edu	37	2	55566748	55566748	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:55566748A>G	ENST00000436346.1	-	13	2211	c.1370T>C	c.(1369-1371)tTg>tCg	p.L457S	CCDC88A_ENST00000263630.8_Missense_Mutation_p.L457S|AC012358.8_ENST00000608103.1_RNA|AC012358.8_ENST00000599352.1_RNA|AC012358.8_ENST00000599475.1_RNA|CCDC88A_ENST00000413716.2_Missense_Mutation_p.L457S|CCDC88A_ENST00000336838.6_Missense_Mutation_p.L457S|AC012358.8_ENST00000594078.1_RNA|AC012358.8_ENST00000600219.1_RNA	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A	457					activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade	cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						ACTTGATGTCAACTCATTCAC	0.363													19	25					0	0	1	0	0	G	55566748	A	G	55566748	3	3	81	1	0	0	0	0	1	0	0	0	2883	131	5	3	4325	3	CCDC88A	2	55566748	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	21909	55566748	187632625	1860	5476											
CCDC88A	55704	broad.mit.edu	37	2	55571571	55571571	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:55571571G>A	ENST00000436346.1	-	11	1962	c.1121C>T	c.(1120-1122)tCt>tTt	p.S374F	CCDC88A_ENST00000263630.8_Missense_Mutation_p.S374F|CCDC88A_ENST00000413716.2_Missense_Mutation_p.S374F|CCDC88A_ENST00000336838.6_Missense_Mutation_p.S374F|AC012358.8_ENST00000594078.1_RNA	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A	374					activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade	cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						TAATTTATCAGAACGAGCACG	0.318													14	33					0	0	1	0	0	A	55571571	G	A	55571571	3	1	81	1	0	0	0	0	1	0	0	0	2883	942	33	2	4582	2	CCDC88A	2	55571571	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	4823	55571571	187627802	1861	5477											
SMEK2	57223	broad.mit.edu	37	2	55825811	55825811	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:55825811T>C	ENST00000272313.5	-	4	989	c.662A>G	c.(661-663)gAt>gGt	p.D221G	SMEK2_ENST00000345102.5_Missense_Mutation_p.D221G|SMEK2_ENST00000407823.3_Missense_Mutation_p.D221G	NM_020463.2	NP_065196.1	Q5MIZ7	P4R3B_HUMAN	SMEK homolog 2, suppressor of mek1 (Dictyostelium)	221						microtubule organizing center|nucleus	protein binding			kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			TCCCACGACATCCATGATACA	0.368													4	80					0	0	1	0	0	C	55825811	T	C	55825811	3	2	81	1	0	0	0	0	1	0	0	0	14848	1435	50	3	1943	3	SMEK2	2	55825811	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	254240	55825811	187373562	1862	5478											
EFEMP1	2202	broad.mit.edu	37	2	56144875	56144875	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:56144875G>A	ENST00000394555.2	-	4	877	c.442C>T	c.(442-444)Cgc>Tgc	p.R148C	EFEMP1_ENST00000394554.1_Missense_Mutation_p.R148C|EFEMP1_ENST00000424836.2_Missense_Mutation_p.R90C|EFEMP1_ENST00000355426.3_Missense_Mutation_p.R148C	NM_001039348.2|NM_001039349.2	NP_001034437.1|NP_001034438.1	Q12805	FBLN3_HUMAN	EGF containing fibulin-like extracellular matrix protein 1	148					negative regulation of chondrocyte differentiation|peptidyl-tyrosine phosphorylation|regulation of transcription, DNA-dependent|visual perception	extracellular space|proteinaceous extracellular matrix	calcium ion binding|epidermal growth factor receptor activity|epidermal growth factor receptor binding|growth factor activity			NS(1)|breast(2)|endometrium(4)|large_intestine(6)|lung(5)|ovary(5)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			GAGGGAATGCGCTGAGGGTCA	0.552													38	54					0	0	1	0	0	A	56144875	G	A	56144875	3	1	81	1	0	0	0	0	1	0	0	0	4967	1087	38	1	1071	1	EFEMP1	2	56144875	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	319064	56144875	187054498	1863	5479											
CCDC85A	114800	broad.mit.edu	37	2	56419887	56419887	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:56419887C>T	ENST00000407595.2	+	2	1054	c.552C>T	c.(550-552)cgC>cgT	p.R184R	RP11-482H16.1_ENST00000607540.1_RNA	NM_001080433.1	NP_001073902.1	Q96PX6	CC85A_HUMAN	coiled-coil domain containing 85A	184										breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)	38			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			CAGGCAGCCGCTGCTCCATCG	0.622													9	35					0	0	1	0	0	T	56419887	C	T	56419887	2	4	81	1	0	0	0	0	0	0	0	1	2879	784	28	2		2	CCDC85A	2	56419887	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	275012	56419887	186779486	1864	5480											
CCDC85A	114800	broad.mit.edu	37	2	56420564	56420564	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:56420564G>T	ENST00000407595.2	+	2	1731	c.1229G>T	c.(1228-1230)aGt>aTt	p.S410I	RP11-482H16.1_ENST00000607540.1_RNA	NM_001080433.1	NP_001073902.1	Q96PX6	CC85A_HUMAN	coiled-coil domain containing 85A	410										breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)	38			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			AATGTCTACAGTGGCATGAAC	0.592													4	8					0.184627	0.18622	1	1	0	T	56420564	G	T	56420564	3	4	81	1	0	0	0	0	1	0	0	0	2879	1029	36	4	1235	4	CCDC85A	2	56420564	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	677	56420564	186778809	1865	5481											
CCDC85A	114800	broad.mit.edu	37	2	56602991	56602991	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:56602991G>A	ENST00000407595.2	+	5	1995	c.1493G>A	c.(1492-1494)aGt>aAt	p.S498N	RP11-482H16.1_ENST00000607540.1_RNA	NM_001080433.1	NP_001073902.1	Q96PX6	CC85A_HUMAN	coiled-coil domain containing 85A	498										breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)	38			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			GGGAGTAACAGTTCACCCAAC	0.428													17	31					0	0	1	0	0	A	56602991	G	A	56602991	3	1	81	1	0	0	0	0	1	0	0	0	2879	1029	36	2	1511	2	CCDC85A	2	56602991	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	182427	56602991	186596382	1866	5482											
CCDC85A	114800	broad.mit.edu	37	2	56611422	56611422	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:56611422G>T	ENST00000407595.2	+	6	2096	c.1594G>T	c.(1594-1596)Gat>Tat	p.D532Y	RP11-482H16.1_ENST00000607540.1_RNA	NM_001080433.1	NP_001073902.1	Q96PX6	CC85A_HUMAN	coiled-coil domain containing 85A	532										breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)	38			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			GAAACTTGGAGATGCTGCAGG	0.393													6	60					8.12818e-05	8.94031e-05	1	1	0	T	56611422	G	T	56611422	3	4	81	1	0	0	0	0	1	0	0	0	2879	942	33	4	1616	4	CCDC85A	2	56611422	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	8431	56611422	186587951	1867	5483											
VRK2	7444	broad.mit.edu	37	2	58386604	58386604	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:58386604G>T	ENST00000435505.2	+	16	2048	c.1303G>T	c.(1303-1305)Gat>Tat	p.D435Y	FANCL_ENST00000402135.3_3'UTR|VRK2_ENST00000440705.2_Missense_Mutation_p.D412Y|VRK2_ENST00000412104.2_3'UTR|VRK2_ENST00000340157.4_Missense_Mutation_p.D435Y|FANCL_ENST00000233741.4_3'UTR|VRK2_ENST00000417641.2_3'UTR|FANCL_ENST00000403295.3_3'UTR			Q86Y07	VRK2_HUMAN	vaccinia related kinase 2	435						integral to membrane	ATP binding|protein binding|protein serine/threonine kinase activity			endometrium(4)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)	24						GCCTCATCAAGATTTTACCAG	0.368													8	55					0.00448238	0.00470627	1	1	0	T	58386604	G	T	58386604	3	4	81	1	0	0	0	0	1	0	0	0	17280	942	33	4	1362	4	VRK2	2	58386604	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1775182	58386604	184812769	1868	5484											
BCL11A	53335	broad.mit.edu	37	2	60688784	60688784	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:60688784C>A	ENST00000335712.6	-	4	1490	c.1263G>T	c.(1261-1263)aaG>aaT	p.K421N	BCL11A_ENST00000358510.4_Missense_Mutation_p.K387N|BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000359629.5_Intron|BCL11A_ENST00000356842.4_Missense_Mutation_p.K421N|BCL11A_ENST00000537768.1_Missense_Mutation_p.K90N|BCL11A_ENST00000538214.1_Missense_Mutation_p.K387N	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)	421					negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			TCATGTGGCGCTTCAGCTTGC	0.642			T	IGH@	B-CLL								26	48					1.2476e-16	1.60284e-16	1	1	0	A	60688784	C	A	60688784	3	1	81	1	0	0	0	0	1	0	0	0	1361	796	28	4	1354	4	BCL11A	2	60688784	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2302180	60688784	182510589	1869	5485											
BCL11A	53335	broad.mit.edu	37	2	60689104	60689104	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:60689104A>C	ENST00000335712.6	-	4	1170	c.943T>G	c.(943-945)Ttc>Gtc	p.F315V	BCL11A_ENST00000358510.4_Missense_Mutation_p.F281V|BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000359629.5_Intron|BCL11A_ENST00000356842.4_Missense_Mutation_p.F315V|BCL11A_ENST00000537768.1_Intron|BCL11A_ENST00000538214.1_Missense_Mutation_p.F281V	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)	315	Pro-rich.				negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			CTCCTAGAGAAATCCATGGCG	0.612			T	IGH@	B-CLL								11	104					0	0	1	0	0	C	60689104	A	C	60689104	3	2	81	1	0	0	0	0	1	0	0	0	1361	14	1	5	1674	5	BCL11A	2	60689104	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	320	60689104	182510269	1870	5486											
PAPOLG	64895	broad.mit.edu	37	2	60995624	60995624	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:60995624T>A	ENST00000238714.3	+	4	515	c.266T>A	c.(265-267)gTg>gAg	p.V89E		NM_022894.3	NP_075045.2	Q9BWT3	PAPOG_HUMAN	poly(A) polymerase gamma	89					mRNA processing|RNA polyadenylation|transcription, DNA-dependent	nucleus	ATP binding|metal ion binding|polynucleotide adenylyltransferase activity|RNA binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	35	all_hematologic(2;0.0797)		LUSC - Lung squamous cell carcinoma(5;1.19e-07)|Lung(5;2.86e-06)|Epithelial(17;0.0768)			CCTTCTGTTGTGGCTACTGTT	0.378													7	92					0	0	1	0	0	A	60995624	T	A	60995624	3	1	81	1	0	0	0	0	1	0	0	0	11478	1696	59	5	280	5	PAPOLG	2	60995624	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	306520	60995624	182203749	1871	5487											
PUS10	150962	broad.mit.edu	37	2	61198657	61198657	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:61198657C>T	ENST00000316752.6	-	5	765		c.e5+1		PUS10_ENST00000407787.1_Splice_Site	NM_144709.2	NP_653310.2	Q3MIT2	PUS10_HUMAN	pseudouridylate synthase 10						pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)	22			LUSC - Lung squamous cell carcinoma(5;1.56e-06)|Lung(5;2.48e-05)|Epithelial(17;0.113)			AAATTACTTACCCCATTTCCT	0.368													55	121					0	0	1	0	0	T	61198657	C	T	61198657	5	4	81	1	0	0	0	0	0	0	1	0	12883	521	18	2	1141	2	PUS10	2	61198657	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	203033	61198657	182000716	1872	5488											
PEX13	5194	broad.mit.edu	37	2	61258831	61258831	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:61258831G>T	ENST00000295030.5	+	2	408	c.370G>T	c.(370-372)Gaa>Taa	p.E124*	PEX13_ENST00000472678.1_3'UTR	NM_002618.3	NP_002609.1	Q92968	PEX13_HUMAN	peroxisomal biogenesis factor 13						cerebral cortex cell migration|fatty acid alpha-oxidation|locomotory behavior|microtubule-based peroxisome localization|neuron migration|protein import into peroxisome matrix, docking|suckling behavior	integral to peroxisomal membrane|membrane fraction	protein binding			endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10			LUSC - Lung squamous cell carcinoma(5;2.05e-06)|Lung(5;3.13e-05)|Epithelial(17;0.114)			GCAAGCTGAAGAAAGCAGCAG	0.448													8	99					1.12685e-05	1.27052e-05	1	1	0	T	61258831	G	T	61258831	4	4	81	1	0	0	0	0	0	1	0	0	11789	943	33	4	376	4	PEX13	2	61258831	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	60174	61258831	181940542	1873	5489	20	2									
PEX13	5194	broad.mit.edu	37	2	61258835	61258835	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:61258835G>A	ENST00000295030.5	+	2	412	c.374G>A	c.(373-375)aGc>aAc	p.S125N	PEX13_ENST00000472678.1_3'UTR	NM_002618.3	NP_002609.1	Q92968	PEX13_HUMAN	peroxisomal biogenesis factor 13						cerebral cortex cell migration|fatty acid alpha-oxidation|locomotory behavior|microtubule-based peroxisome localization|neuron migration|protein import into peroxisome matrix, docking|suckling behavior	integral to peroxisomal membrane|membrane fraction	protein binding			endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10			LUSC - Lung squamous cell carcinoma(5;2.05e-06)|Lung(5;3.13e-05)|Epithelial(17;0.114)			GCTGAAGAAAGCAGCAGGGGT	0.443													41	72					0	0	1	0	0	A	61258835	G	A	61258835	3	1	81	1	0	0	0	0	1	0	0	0	11789	971	34	2	380	2	PEX13	2	61258835	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	4	61258835	181940538	1874	5490	20	2									
KIAA1841	84542	broad.mit.edu	37	2	61310368	61310368	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:61310368C>T	ENST00000402291.1	+	8	1050	c.809C>T	c.(808-810)gCa>gTa	p.A270V	KIAA1841_ENST00000482513.1_3'UTR|KIAA1841_ENST00000453873.1_Missense_Mutation_p.A270V|KIAA1841_ENST00000295031.5_Missense_Mutation_p.A270V|KIAA1841_ENST00000356719.2_Missense_Mutation_p.A270V	NM_001129993.1	NP_001123465.1	Q6NSI8	K1841_HUMAN	KIAA1841	270										breast(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	25			Epithelial(17;0.193)			TGTATTAATGCAAATCTTCTC	0.299													27	35					0	0	1	0	0	T	61310368	C	T	61310368	3	4	81	1	0	0	0	0	1	0	0	0	8303	710	25	2	831	2	KIAA1841	2	61310368	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	51533	61310368	181889005	1875	5491											
USP34	9736	broad.mit.edu	37	2	61433181	61433181	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:61433181C>A	ENST00000398571.2	-	72	9201	c.9125G>T	c.(9124-9126)aGt>aTt	p.S3042I		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	3042					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			TTCTGGAGGACTATAGGAATT	0.363													40	59					4.01765e-15	5.1199e-15	1	1	0	A	61433181	C	A	61433181	3	1	81	1	0	0	0	0	1	0	0	0	17125	565	20	4	1551	4	USP34	2	61433181	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	122813	61433181	181766192	1876	5492											
USP34	9736	broad.mit.edu	37	2	61441453	61441453	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:61441453G>T	ENST00000398571.2	-	68	8500	c.8424C>A	c.(8422-8424)gtC>gtA	p.V2808V	USP34_ENST00000472689.1_Intron	NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	2808					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			AGTCAGCACAGACATTGTACC	0.413													9	190					5.4927e-09	6.5834e-09	1	1	0	T	61441453	G	T	61441453	2	4	81	1	0	0	0	0	0	0	0	1	17125	929	33	4		4	USP34	2	61441453	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	8272	61441453	181757920	1877	5493											
USP34	9736	broad.mit.edu	37	2	61441712	61441712	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:61441712A>G	ENST00000398571.2	-	68	8241	c.8165T>C	c.(8164-8166)gTa>gCa	p.V2722A	USP34_ENST00000472689.1_Intron	NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	2722					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			ATGTAGGACTACTGTTGTGTC	0.478													38	48					0	0	1	0	0	G	61441712	A	G	61441712	3	3	81	1	0	0	0	0	1	0	0	0	17125	391	14	3	2527	3	USP34	2	61441712	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	259	61441712	181757661	1878	5494											
USP34	9736	broad.mit.edu	37	2	61508367	61508367	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:61508367C>T	ENST00000398571.2	-	38	5085	c.5009G>A	c.(5008-5010)cGt>cAt	p.R1670H		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	1670					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			TGATTCATGACGAACTGCAGT	0.368													14	25					0	0	1	0	0	T	61508367	C	T	61508367	3	4	81	1	0	0	0	0	1	0	0	0	17125	536	19	1	5803	1	USP34	2	61508367	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	66655	61508367	181691006	1879	5495											
FAM161A	84140	broad.mit.edu	37	2	62067501	62067501	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:62067501C>T	ENST00000404929.1	-	3	649	c.638G>A	c.(637-639)cGc>cAc	p.R213H	FAM161A_ENST00000405894.3_Missense_Mutation_p.R213H	NM_001201543.1	NP_001188472.1	Q3B820	F161A_HUMAN	family with sequence similarity 161, member A	213					response to stimulus|visual perception	centrosome				breast(1)|endometrium(5)|large_intestine(8)|lung(4)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						ATCTTTACAGCGAATATAATC	0.388													10	126					0	0	1	0	0	T	62067501	C	T	62067501	3	4	81	1	0	0	0	0	1	0	0	0	5502	768	27	1	1360	1	FAM161A	2	62067501	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	559134	62067501	181131872	1880	5496											
CCT4	10575	broad.mit.edu	37	2	62100196	62100196	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:62100196G>T	ENST00000394440.3	-	10	1362	c.1066C>A	c.(1066-1068)Ctg>Atg	p.L356M	CCT4_ENST00000544185.1_Missense_Mutation_p.L206M|CCT4_ENST00000461540.2_Intron|CCT4_ENST00000538252.1_Missense_Mutation_p.L300M|AC107081.5_ENST00000425779.1_RNA|CCT4_ENST00000544079.1_Missense_Mutation_p.L326M	NM_006430.3	NP_006421.2	P50991	TCPD_HUMAN	chaperonin containing TCP1, subunit 4 (delta)	356					'de novo' posttranslational protein folding	melanosome|microtubule organizing center|nucleus	ATP binding|unfolded protein binding			breast(1)|large_intestine(2)|lung(6)|ovary(2)	11	Lung NSC(7;0.035)|all_lung(7;0.0691)		LUSC - Lung squamous cell carcinoma(7;6.5e-06)|Epithelial(17;0.0647)|all cancers(80;0.221)			GCAGAACCCAGCATGTCAGCA	0.363													14	222					6.72482e-11	8.27642e-11	1	1	0	T	62100196	G	T	62100196	3	4	81	1	0	0	0	0	1	0	0	0	2977	962	34	4	573	4	CCT4	2	62100196	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	32695	62100196	181099177	1881	5497											
B3GNT2	10678	broad.mit.edu	37	2	62450246	62450246	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:62450246T>C	ENST00000301998.4	+	2	1143	c.891T>C	c.(889-891)tcT>tcC	p.S297S	B3GNT2_ENST00000405767.1_Silent_p.S297S	NM_006577.5	NP_006568.2	Q9NY97	B3GN2_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 2	297						Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)	18	Lung NSC(7;0.031)|all_lung(7;0.0634)		LUSC - Lung squamous cell carcinoma(7;3.55e-06)|Epithelial(17;0.0963)			TTGTTTACTCTGGCCTCTACC	0.532													10	70					0	0	1	0	0	C	62450246	T	C	62450246	2	2	81	1	0	0	0	0	0	0	0	1	1255	1567	55	3		3	B3GNT2	2	62450246	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	350050	62450246	180749127	1882	5498											
UGP2	7360	broad.mit.edu	37	2	64114548	64114548	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:64114548G>T	ENST00000337130.5	+	8	1560	c.1084G>T	c.(1084-1086)Ggc>Tgc	p.G362C	UGP2_ENST00000467648.2_Missense_Mutation_p.G351C|UGP2_ENST00000445915.2_Missense_Mutation_p.G371C|UGP2_ENST00000394417.2_Missense_Mutation_p.G351C	NM_006759.3	NP_006750.3	Q16851	UGPA_HUMAN	UDP-glucose pyrophosphorylase 2	362					glycogen biosynthetic process|phosphorylation|UDP-glucose metabolic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process	cytosol	metal ion binding|protein binding|UTP:glucose-1-phosphate uridylyltransferase activity			endometrium(2)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)	18						TTTGGATGGAGGCCTGAATGT	0.413													8	84					1.06961e-07	1.25755e-07	1	1	0	T	64114548	G	T	64114548	3	4	81	1	0	0	0	0	1	0	0	0	17003	1000	35	4	1114	4	UGP2	2	64114548	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1664302	64114548	179084825	1883	5499											
VPS54	51542	broad.mit.edu	37	2	64148459	64148459	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:64148459C>A	ENST00000409558.4	-	13	1868	c.1714G>T	c.(1714-1716)Gat>Tat	p.D572Y	VPS54_ENST00000272322.4_Missense_Mutation_p.D584Y|VPS54_ENST00000354504.3_Missense_Mutation_p.D431Y	NM_001005739.1|NM_016516.2	NP_001005739.1|NP_057600.2	Q9P1Q0	VPS54_HUMAN	vacuolar protein sorting 54 homolog (S. cerevisiae)						protein transport|retrograde transport, endosome to Golgi					endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	27						AATTTCATATCTTCACTGACC	0.343													6	43					3.59834e-05	3.99423e-05	1	1	0	A	64148459	C	A	64148459	3	1	81	1	0	0	0	0	1	0	0	0	17276	913	32	4	1227	4	VPS54	2	64148459	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	33911	64148459	179050914	1884	5500											
AFTPH	54812	broad.mit.edu	37	2	64779246	64779246	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:64779246G>T	ENST00000422803.1	+	2	952	c.638G>T	c.(637-639)aGc>aTc	p.S213I	AFTPH_ENST00000238856.4_Missense_Mutation_p.S213I|AFTPH_ENST00000238855.7_Missense_Mutation_p.S213I|AFTPH_ENST00000409933.1_Missense_Mutation_p.S213I			Q6ULP2	AFTIN_HUMAN	aftiphilin	213					protein transport	AP-1 adaptor complex|cytosol|nucleus	clathrin binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	35						AAGCCTCTTAGCACTCATAGC	0.403													6	68					0.00307968	0.00324365	1	1	0	T	64779246	G	T	64779246	3	4	81	1	0	0	0	0	1	0	0	0	363	971	34	4	640	4	AFTPH	2	64779246	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	630787	64779246	178420127	1885	5501											
AFTPH	54812	broad.mit.edu	37	2	64779664	64779664	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:64779664T>C	ENST00000422803.1	+	2	1370	c.1056T>C	c.(1054-1056)tgT>tgC	p.C352C	AFTPH_ENST00000238856.4_Silent_p.C352C|AFTPH_ENST00000238855.7_Silent_p.C352C|AFTPH_ENST00000409933.1_Silent_p.C352C|AFTPH_ENST00000409183.1_5'UTR			Q6ULP2	AFTIN_HUMAN	aftiphilin	352					protein transport	AP-1 adaptor complex|cytosol|nucleus	clathrin binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	35						GAGAACAATGTAAAACTGAAG	0.383													34	60					0	0	1	0	0	C	64779664	T	C	64779664	2	2	81	1	0	0	0	0	0	0	0	1	363	1644	57	3		3	AFTPH	2	64779664	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	418	64779664	178419709	1886	5502											
SERTAD2	9792	broad.mit.edu	37	2	64863790	64863790	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:64863790G>T	ENST00000313349.3	-	2	513	c.216C>A	c.(214-216)atC>atA	p.I72I	SERTAD2_ENST00000476805.2_5'UTR	NM_014755.2	NP_055570.1	Q14140	SRTD2_HUMAN	SERTA domain containing 2	72	SERTA.				negative regulation of cell growth|transcription, DNA-dependent	cytoplasm|nucleus				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|skin(1)	12						GTTCCTCCTGGATCCGCCTCA	0.557													6	74					0.0381472	0.0389402	1	1	0	T	64863790	G	T	64863790	2	4	81	1	0	0	0	0	0	0	0	1	14175	1164	41	5		5	SERTAD2	2	64863790	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	84126	64863790	178335583	1887	5503											
SLC1A4	6509	broad.mit.edu	37	2	65228624	65228624	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:65228624G>A	ENST00000234256.3	+	2	813	c.570G>A	c.(568-570)acG>acA	p.T190T	SLC1A4_ENST00000531327.1_5'UTR|SLC1A4_ENST00000493121.1_3'UTR	NM_003038.4	NP_003029.2	P43007	SATT_HUMAN	solute carrier family 1 (glutamate/neutral amino acid transporter), member 4	190					cellular nitrogen compound metabolic process|cognition|synaptic transmission, glutamatergic	intermediate filament|melanosome	chloride channel activity|L-alanine transmembrane transporter activity|L-cystine transmembrane transporter activity|L-hydroxyproline transmembrane transporter activity|L-proline transmembrane transporter activity|L-serine transmembrane transporter activity|L-threonine transmembrane transporter activity|sodium:dicarboxylate symporter activity	p.T190T(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|urinary_tract(1)	13					L-Alanine(DB00160)	CTTTCCGTACGGTAAGGCTTG	0.373													40	73					0	0	1	0	0	A	65228624	G	A	65228624	5	1	81	1	0	0	0	0	0	0	1	0	14489	1130	39	1	576	1	SLC1A4	2	65228624	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	364834	65228624	177970749	1888	5504											
CEP68	23177	broad.mit.edu	37	2	65309818	65309818	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:65309818G>T	ENST00000377990.2	+	6	2456	c.2253G>T	c.(2251-2253)gaG>gaT	p.E751D	RAB1A_ENST00000494188.1_Intron|CEP68_ENST00000260569.4_Missense_Mutation_p.E614D	NM_015147.2	NP_055962.2	Q76N32	CEP68_HUMAN	centrosomal protein 68kDa	751					centrosome organization	centrosome				breast(1)|endometrium(6)|kidney(8)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32						CGGCAATGGAGCACCCATGTG	0.512													32	73					9.78485e-24	1.29022e-23	1	1	0	T	65309818	G	T	65309818	3	4	81	1	0	0	0	0	1	0	0	0	3280	962	34	4	2271	4	CEP68	2	65309818	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	81194	65309818	177889555	1889	5505											
ACTR2	10097	broad.mit.edu	37	2	65473760	65473760	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:65473760C>A	ENST00000260641.5	+	3	419	c.262C>A	c.(262-264)Ctg>Atg	p.L88M	ACTR2_ENST00000542850.1_Missense_Mutation_p.L33M|ACTR2_ENST00000476840.1_3'UTR|ACTR2_ENST00000377982.4_Missense_Mutation_p.L93M	NM_005722.3	NP_005713.1	P61160	ARP2_HUMAN	ARP2 actin-related protein 2 homolog (yeast)	88					cellular component movement	Arp2/3 protein complex|cell projection|cytoplasm	actin binding|ATP binding			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(1)|prostate(1)	12						CATGAAACACCTGTGGGACTA	0.378													11	134					0.000673444	0.000721718	1	1	0	A	65473760	C	A	65473760	3	1	81	1	0	0	0	0	1	0	0	0	211	680	24	4	291	4	ACTR2	2	65473760	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	163942	65473760	177725613	1890	5506											
SPRED2	200734	broad.mit.edu	37	2	65540818	65540818	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:65540818C>A	ENST00000356388.4	-	6	1263	c.1074G>T	c.(1072-1074)gaG>gaT	p.E358D	SPRED2_ENST00000443619.2_Missense_Mutation_p.E355D	NM_181784.2	NP_861449.2	Q7Z698	SPRE2_HUMAN	sprouty-related, EVH1 domain containing 2	358	SPR.				inactivation of MAPK activity|multicellular organismal development	transport vesicle membrane	stem cell factor receptor binding			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(7)|ovary(2)|upper_aerodigestive_tract(3)	34						TATAGTCTCCCTCGGGGTCCG	0.582													11	28					0.000978159	0.00104673	1	1	0	A	65540818	C	A	65540818	3	1	81	1	0	0	0	0	1	0	0	0	15149	680	24	4	186	4	SPRED2	2	65540818	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	67058	65540818	177658555	1891	5507											
SPRED2	200734	broad.mit.edu	37	2	65540885	65540885	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:65540885C>T	ENST00000356388.4	-	6	1196	c.1007G>A	c.(1006-1008)tGc>tAc	p.C336Y	SPRED2_ENST00000443619.2_Missense_Mutation_p.C333Y	NM_181784.2	NP_861449.2	Q7Z698	SPRE2_HUMAN	sprouty-related, EVH1 domain containing 2	336	SPR.				inactivation of MAPK activity|multicellular organismal development	transport vesicle membrane	stem cell factor receptor binding			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(7)|ovary(2)|upper_aerodigestive_tract(3)	34						CCGGCGGATGCAAGTTCTCAC	0.627													23	45					0	0	1	0	0	T	65540885	C	T	65540885	3	4	81	1	0	0	0	0	1	0	0	0	15149	710	25	2	253	2	SPRED2	2	65540885	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	67	65540885	177658488	1892	5508											
MEIS1	4211	broad.mit.edu	37	2	66664997	66664997	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:66664997G>A	ENST00000488550.1	+	2	440	c.141G>A	c.(139-141)tcG>tcA	p.S47S	MEIS1_ENST00000444274.2_Silent_p.S15S|MEIS1_ENST00000560281.2_Silent_p.S47S|MEIS1_ENST00000407092.2_Silent_p.S47S|MEIS1_ENST00000272369.9_Silent_p.S47S|MEIS1_ENST00000398506.2_Silent_p.S45S			O00470	MEIS1_HUMAN	Meis homeobox 1	47							sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	24						CTCTGCACTCGCATCAGTACC	0.577													9	7					0	0	1	0	0	A	66664997	G	A	66664997	2	1	81	1	0	0	0	0	0	0	0	1	9517	1074	38	1		1	MEIS1	2	66664997	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1124112	66664997	176534376	1893	5509											
ETAA1	54465	broad.mit.edu	37	2	67630708	67630708	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:67630708C>T	ENST00000272342.5	+	5	1024	c.894C>T	c.(892-894)agC>agT	p.S298S	ETAA1_ENST00000462772.1_Intron	NM_019002.3	NP_061875.2	Q9NY74	ETAA1_HUMAN	Ewing tumor-associated antigen 1	298						cytoplasm|nucleus				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	33						GACAGTTAAGCCAAGAACTGC	0.378													29	54					0	0	1	0	0	T	67630708	C	T	67630708	2	4	81	1	0	0	0	0	0	0	0	1	5295	738	26	2		2	ETAA1	2	67630708	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	965711	67630708	175568665	1894	5510											
ETAA1	54465	broad.mit.edu	37	2	67632257	67632257	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:67632257A>G	ENST00000272342.5	+	5	2573	c.2443A>G	c.(2443-2445)Aca>Gca	p.T815A	ETAA1_ENST00000462772.1_3'UTR	NM_019002.3	NP_061875.2	Q9NY74	ETAA1_HUMAN	Ewing tumor-associated antigen 1	815						cytoplasm|nucleus				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	33						CCTTAACACAACAGTTGGATT	0.313													28	22					0	0	1	0	0	G	67632257	A	G	67632257	3	3	81	1	0	0	0	0	1	0	0	0	5295	43	2	3	2461	3	ETAA1	2	67632257	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	1549	67632257	175567116	1895	5511											
PLEK	5341	broad.mit.edu	37	2	68609737	68609737	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:68609737C>T	ENST00000234313.7	+	4	623	c.444C>T	c.(442-444)gaC>gaT	p.D148D		NM_002664.2	NP_002655.2	P08567	PLEK_HUMAN	pleckstrin	148	DEP.				actin cytoskeleton reorganization|cortical actin cytoskeleton organization|hemopoietic progenitor cell differentiation|inhibition of phospholipase C activity involved in G-protein coupled receptor signaling pathway|integrin-mediated signaling pathway|negative regulation of calcium-mediated signaling|negative regulation of inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|platelet aggregation|positive regulation of actin filament bundle assembly|positive regulation of actin filament depolymerization|positive regulation of inositol-polyphosphate 5-phosphatase activity|positive regulation of integrin activation|positive regulation of platelet activation|protein kinase C signaling cascade|protein secretion by platelet|regulation of cell diameter|ruffle organization|thrombin receptor signaling pathway|vesicle docking involved in exocytosis	cytosol|extracellular region|membrane fraction|ruffle membrane|soluble fraction	phosphatidylinositol-3,4-bisphosphate binding|protein homodimerization activity|protein kinase C binding			autonomic_ganglia(1)|endometrium(3)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	24		Ovarian(717;0.0129)		STAD - Stomach adenocarcinoma(1183;0.00159)|READ - Rectum adenocarcinoma(193;0.0419)		TAGAGAAGGACAAGAAGATTT	0.413													36	82					0	0	1	0	0	T	68609737	C	T	68609737	2	4	81	1	0	0	0	0	0	0	0	1	12101	477	17	2		2	PLEK	2	68609737	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	977480	68609737	174589636	1896	5512											
PROKR1	10887	broad.mit.edu	37	2	68882376	68882376	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:68882376C>A	ENST00000303786.3	+	3	1270	c.850C>A	c.(850-852)Ctg>Atg	p.L284M	PROKR1_ENST00000394342.2_Missense_Mutation_p.L284M			Q8TCW9	PKR1_HUMAN	prokineticin receptor 1	284						integral to membrane|plasma membrane	neuropeptide Y receptor activity			endometrium(3)|kidney(2)|large_intestine(14)|lung(9)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						GAAGACGGTCCTGGTGCTCAT	0.612													11	32					0.0135373	0.014045	1	1	0	A	68882376	C	A	68882376	3	1	81	1	0	0	0	0	1	0	0	0	12604	680	24	4	856	4	PROKR1	2	68882376	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	272639	68882376	174316997	1897	5513											
ARHGAP25	9938	broad.mit.edu	37	2	69046261	69046261	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:69046261C>A	ENST00000295381.3	+	9	1426	c.1007C>A	c.(1006-1008)cCt>cAt	p.P336H	ARHGAP25_ENST00000497079.1_Missense_Mutation_p.P330H|ARHGAP25_ENST00000409220.1_Missense_Mutation_p.P330H|ARHGAP25_ENST00000409030.3_Missense_Mutation_p.P329H|ARHGAP25_ENST00000409202.3_Missense_Mutation_p.P337H|ARHGAP25_ENST00000479844.1_Missense_Mutation_p.P30H|ARHGAP25_ENST00000467265.1_Missense_Mutation_p.P297H	NM_001007231.2	NP_001007232.2	P42331	RHG25_HUMAN	Rho GTPase activating protein 25	336	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	52						TCAGGGACTCCTCAGATCCAA	0.493													22	242					3.28513e-13	4.13666e-13	1	1	0	A	69046261	C	A	69046261	3	1	81	1	0	0	0	0	1	0	0	0	871	681	24	4	1084	4	ARHGAP25	2	69046261	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	163885	69046261	174153112	1898	5514											
BMP10	27302	broad.mit.edu	37	2	69093135	69093135	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:69093135C>T	ENST00000295379.1	-	2	1061	c.903G>A	c.(901-903)caG>caA	p.Q301Q		NM_014482.1	NP_055297.1	O95393	BMP10_HUMAN	bone morphogenetic protein 10	301					activin receptor signaling pathway|adult heart development|atrial cardiac muscle tissue morphogenesis|BMP signaling pathway|cardiac muscle cell proliferation|heart trabecula formation|negative regulation of cardiac muscle hypertrophy|negative regulation of cell growth|negative regulation of endothelial cell migration|Notch signaling pathway|pathway-restricted SMAD protein phosphorylation|positive regulation of cardiac muscle cell proliferation|positive regulation of cardiac muscle hypertrophy|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent|sarcomere organization|ventricular cardiac muscle cell development|ventricular cardiac muscle tissue morphogenesis	cell surface|extracellular space|Z disc	cytokine activity|growth factor activity|receptor serine/threonine kinase binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(15)|ovary(2)	27						TTGATCTCATCTGCAACAAAG	0.483													16	19					0	0	1	0	0	T	69093135	C	T	69093135	2	4	81	1	0	0	0	0	0	0	0	1	1456	912	32	2		2	BMP10	2	69093135	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	46874	69093135	174106238	1899	5515											
BMP10	27302	broad.mit.edu	37	2	69093325	69093325	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:69093325C>T	ENST00000295379.1	-	2	871	c.713G>A	c.(712-714)cGg>cAg	p.R238Q		NM_014482.1	NP_055297.1	O95393	BMP10_HUMAN	bone morphogenetic protein 10	238					activin receptor signaling pathway|adult heart development|atrial cardiac muscle tissue morphogenesis|BMP signaling pathway|cardiac muscle cell proliferation|heart trabecula formation|negative regulation of cardiac muscle hypertrophy|negative regulation of cell growth|negative regulation of endothelial cell migration|Notch signaling pathway|pathway-restricted SMAD protein phosphorylation|positive regulation of cardiac muscle cell proliferation|positive regulation of cardiac muscle hypertrophy|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent|sarcomere organization|ventricular cardiac muscle cell development|ventricular cardiac muscle tissue morphogenesis	cell surface|extracellular space|Z disc	cytokine activity|growth factor activity|receptor serine/threonine kinase binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(15)|ovary(2)	27						TATTTCTAGCCGTCCACTGCT	0.498													15	32					0	0	1	0	0	T	69093325	C	T	69093325	3	4	81	1	0	0	0	0	1	0	0	0	1456	652	23	1	565	1	BMP10	2	69093325	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	190	69093325	174106048	1900	5516											
GKN2	200504	broad.mit.edu	37	2	69177295	69177295	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:69177295C>T	ENST00000481498.1	-	3	185	c.167G>A	c.(166-168)gGa>gAa	p.G56E	GKN2_ENST00000328895.4_Missense_Mutation_p.G56E			Q86XP6	GKN2_HUMAN	gastrokine 2	56	BRICHOS.					extracellular region				autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(1)	15						AGAGCATGATCCTGCATGGAT	0.368													36	45					0	0	1	0	0	T	69177295	C	T	69177295	3	4	81	1	0	0	0	0	1	0	0	0	6467	855	30	2	403	2	GKN2	2	69177295	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	83970	69177295	174022078	1901	5517											
GFPT1	2673	broad.mit.edu	37	2	69597161	69597161	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:69597161T>G	ENST00000357308.4	-	3	373	c.195A>C	c.(193-195)aaA>aaC	p.K65N	GFPT1_ENST00000494201.1_5'UTR|GFPT1_ENST00000361060.5_Missense_Mutation_p.K65N	NM_001244710.1	NP_001231639.1	Q06210	GFPT1_HUMAN	glutamine--fructose-6-phosphate transaminase 1	65	Glutamine amidotransferase type-2.				dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding			endometrium(1)|large_intestine(3)|lung(5)|skin(3)	12						GTGCCTTAACTTTTCCTTTCT	0.408													9	89					0	0	1	0	0	G	69597161	T	G	69597161	3	3	81	1	0	0	0	0	1	0	0	0	6387	1606	56	5	1918	5	GFPT1	2	69597161	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	419866	69597161	173602212	1902	5518											
ANXA4	307	broad.mit.edu	37	2	70031690	70031690	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:70031690C>T	ENST00000394295.4	+	4	371	c.123C>T	c.(121-123)agC>agT	p.S41S	ANXA4_ENST00000536030.1_5'UTR|ANXA4_ENST00000409920.1_Silent_p.S41S	NM_001153.3	NP_001144.1	P09525	ANXA4_HUMAN	annexin A4	39					anti-apoptosis|signal transduction	cytoplasm	calcium ion binding|calcium-dependent phospholipid binding|phospholipase inhibitor activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)	11						CCATTATTAGCGTCCTTGCCT	0.557													9	15					0	0	1	0	0	T	70031690	C	T	70031690	2	4	81	1	0	0	0	0	0	0	0	1	714	767	27	1		1	ANXA4	2	70031690	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	434529	70031690	173167683	1903	5519											
GMCL1	64395	broad.mit.edu	37	2	70098941	70098941	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:70098941A>C	ENST00000282570.3	+	13	1680	c.1429A>C	c.(1429-1431)Ata>Cta	p.I477L		NM_178439.3	NP_848526.1	Q96IK5	GMCL1_HUMAN	germ cell-less, spermatogenesis associated 1	477					cell differentiation|multicellular organismal development|spermatogenesis	nuclear matrix				endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	15						TGGCTATCAAATACTTACACT	0.279													21	44					0	0	1	0	0	C	70098941	A	C	70098941	3	2	81	1	0	0	0	0	1	0	0	0	6527	101	4	4	1479	4	GMCL1	2	70098941	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	67251	70098941	173100432	1904	5520											
C2orf42	54980	broad.mit.edu	37	2	70408334	70408334	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:70408334C>T	ENST00000264434.2	-	3	1163	c.784G>A	c.(784-786)Gct>Act	p.A262T	C2orf42_ENST00000420306.1_Missense_Mutation_p.A262T	NM_017880.1	NP_060350.1	Q9NWW7	CB042_HUMAN	chromosome 2 open reading frame 42	262										endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1)	12						AATTCCTGAGCCAGTGTCTCA	0.428													5	59					0	0	1	0	0	T	70408334	C	T	70408334	3	4	81	1	0	0	0	0	1	0	0	0	2180	739	26	2	972	2	C2orf42	2	70408334	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	309393	70408334	172791039	1905	5521											
TIA1	7072	broad.mit.edu	37	2	70454956	70454956	+	Splice_Site	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:70454956T>G	ENST00000433529.2	-	6	521		c.e6-2		TIA1_ENST00000445587.1_Splice_Site|TIA1_ENST00000415783.2_Splice_Site|C2orf42_ENST00000470096.1_Intron|TIA1_ENST00000416149.2_Splice_Site|TIA1_ENST00000282574.4_Splice_Site	NM_022173.2	NP_071505.2	P31483	TIA1_HUMAN	TIA1 cytotoxic granule-associated RNA binding protein						apoptosis|induction of apoptosis|regulation of nuclear mRNA splicing, via spliceosome	nucleus	nucleotide binding|poly(A) RNA binding|protein binding			endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|skin(1)|urinary_tract(1)	17						GGAAATGATCTTATAAGGGGA	0.318													33	56					0	0	1	0	0	G	70454956	T	G	70454956	5	3	81	1	0	0	0	0	0	0	1	0	15947	1623	56	5	883	5	TIA1	2	70454956	Splice_Site	SNP	T	TCGA-DU-6392-01A-11D-1705-08	46622	70454956	172744417	1906	5522											
PCYOX1	51449	broad.mit.edu	37	2	70486557	70486557	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:70486557G>T	ENST00000433351.2	+	2	206	c.178G>T	c.(178-180)Gat>Tat	p.D60Y	PCYOX1_ENST00000505044.2_5'UTR|PCYOX1_ENST00000264441.5_Missense_Mutation_p.D60Y|PCYOX1_ENST00000545138.1_5'UTR	NM_016297.3	NP_057381.3	Q9UHG3	PCYOX_HUMAN	prenylcysteine oxidase 1	60					prenylated protein catabolic process	lysosome|very-low-density lipoprotein particle	prenylcysteine oxidase activity			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)	15						ATTTGGGAAAGATGTGAAGAT	0.488													8	312					1.12685e-05	1.27052e-05	1	1	0	T	70486557	G	T	70486557	3	4	81	1	0	0	0	0	1	0	0	0	11655	942	33	4	184	4	PCYOX1	2	70486557	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	31601	70486557	172712816	1907	5523											
ADD2	119	broad.mit.edu	37	2	70890837	70890837	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:70890837G>A	ENST00000264436.4	-	16	2345	c.1901C>T	c.(1900-1902)gCc>gTc	p.A634V	ADD2_ENST00000407644.2_Missense_Mutation_p.A634V|ADD2_ENST00000355733.3_3'UTR	NM_001617.3	NP_001608.1	P35612	ADDB_HUMAN	adducin 2 (beta)						actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding	cytoplasm|F-actin capping protein complex|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding			autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						TGTGGTGGCGGCTTTGCTTGT	0.522													21	28					0	0	1	0	0	A	70890837	G	A	70890837	3	1	81	1	0	0	0	0	1	0	0	0	304	1203	42	2	283	2	ADD2	2	70890837	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	404280	70890837	172308536	1908	5524											
ADD2	119	broad.mit.edu	37	2	70919548	70919548	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:70919548G>A	ENST00000264436.4	-	7	1136	c.692C>T	c.(691-693)cCg>cTg	p.P231L	ADD2_ENST00000413157.2_Missense_Mutation_p.P231L|ADD2_ENST00000407644.2_Missense_Mutation_p.P231L|ADD2_ENST00000430656.1_Missense_Mutation_p.P247L|ADD2_ENST00000355733.3_Missense_Mutation_p.P231L	NM_001617.3	NP_001608.1	P35612	ADDB_HUMAN	adducin 2 (beta)						actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding	cytoplasm|F-actin capping protein complex|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding			autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						TGCTGTGGCCGGTGTGTGCAG	0.587													3	10					0	0	1	0	0	A	70919548	G	A	70919548	3	1	81	1	0	0	0	0	1	0	0	0	304	1116	39	1	1705	1	ADD2	2	70919548	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	28711	70919548	172279825	1909	5525											
ADD2	119	broad.mit.edu	37	2	70931553	70931553	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:70931553C>A	ENST00000264436.4	-	4	666	c.222G>T	c.(220-222)caG>caT	p.Q74H	ADD2_ENST00000413157.2_Missense_Mutation_p.Q74H|ADD2_ENST00000407644.2_Missense_Mutation_p.Q74H|ADD2_ENST00000430656.1_Missense_Mutation_p.Q90H|ADD2_ENST00000355733.3_Missense_Mutation_p.Q74H	NM_001617.3	NP_001608.1	P35612	ADDB_HUMAN	adducin 2 (beta)						actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding	cytoplasm|F-actin capping protein complex|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding			autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						CCTTCTTCATCTGCTCCTGGA	0.592													19	38					4.35082e-09	5.22652e-09	1	1	0	A	70931553	C	A	70931553	3	1	81	1	0	0	0	0	1	0	0	0	304	912	32	4	2191	4	ADD2	2	70931553	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	12005	70931553	172267820	1910	5526											
CLEC4F	165530	broad.mit.edu	37	2	71043260	71043260	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:71043260C>A	ENST00000272367.2	-	4	1329	c.1253G>T	c.(1252-1254)aGt>aTt	p.S418I	CLEC4F_ENST00000426626.1_Missense_Mutation_p.S418I	NM_001258027.1|NM_173535.2	NP_001244956.1|NP_775806.2	Q8N1N0	CLC4F_HUMAN	C-type lectin domain family 4, member F	418					endocytosis	integral to membrane	receptor activity|sugar binding			endometrium(1)|large_intestine(5)|lung(18)|ovary(5)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	37						GATCTCGGCACTGGCCTTCTG	0.498													4	46					1	1	1	1	0	A	71043260	C	A	71043260	3	1	81	1	0	0	0	0	1	0	0	0	3539	565	20	4	532	4	CLEC4F	2	71043260	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	111707	71043260	172156113	1911	5527											
ATP6V1B1	525	broad.mit.edu	37	2	71170823	71170823	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:71170823G>A	ENST00000234396.4	+	2	227	c.154G>A	c.(154-156)Gtg>Atg	p.V52M	AC007040.7_ENST00000422761.1_RNA|ATP6V1B1_ENST00000412314.1_Missense_Mutation_p.V52M|AC007040.11_ENST00000606025.1_Intron|AC007040.7_ENST00000447639.1_RNA	NM_001692.3	NP_001683.2	P15313	VATB1_HUMAN	ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1	52					ATP hydrolysis coupled proton transport|calcium ion homeostasis|cellular iron ion homeostasis|excretion|inner ear morphogenesis|insulin receptor signaling pathway|ossification|pH reduction|sensory perception of sound|transferrin transport	apical plasma membrane|basolateral plasma membrane|cytosol|endomembrane system|lateral plasma membrane|microvillus|proton-transporting V-type ATPase, V1 domain|vacuolar proton-transporting V-type ATPase complex	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(1)	19						CGGGCCCCTGGTGGTGCTGGA	0.627													10	20					0	0	1	0	0	A	71170823	G	A	71170823	3	1	81	1	0	0	0	0	1	0	0	0	1176	1261	44	2	160	2	ATP6V1B1	2	71170823	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	127563	71170823	172028550	1912	5528											
ZNF638	27332	broad.mit.edu	37	2	71577212	71577212	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:71577212G>T	ENST00000409544.1	+	2	1758	c.1128G>T	c.(1126-1128)caG>caT	p.Q376H	ZNF638_ENST00000264447.4_Missense_Mutation_p.Q376H|ZNF638_ENST00000410075.1_3'UTR|ZNF638_ENST00000355812.3_Missense_Mutation_p.Q376H|ZNF638_ENST00000377802.2_Missense_Mutation_p.Q376H	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638	376					RNA splicing	cytoplasm|nuclear speck	double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						ACCAGTCACAGGCTGACATTC	0.443													8	115					1.12685e-05	1.27052e-05	1	1	0	T	71577212	G	T	71577212	3	4	81	1	0	0	0	0	1	0	0	0	18112	991	35	4	1130	4	ZNF638	2	71577212	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	406389	71577212	171622161	1913	5529											
ZNF638	27332	broad.mit.edu	37	2	71626719	71626719	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:71626719C>A	ENST00000409544.1	+	13	3161	c.2531C>A	c.(2530-2532)gCc>gAc	p.A844D	ZNF638_ENST00000264447.4_Missense_Mutation_p.A844D|ZNF638_ENST00000355812.3_Missense_Mutation_p.A844D	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638	844					RNA splicing	cytoplasm|nuclear speck	double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						TCTCTAGAAGCCAAAAAGACT	0.353													6	126					0.00621372	0.00649472	1	1	0	A	71626719	C	A	71626719	3	1	81	1	0	0	0	0	1	0	0	0	18112	739	26	5	2577	5	ZNF638	2	71626719	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	49507	71626719	171572654	1914	5530											
ZNF638	27332	broad.mit.edu	37	2	71660295	71660295	+	Splice_Site	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:71660295A>C	ENST00000409544.1	+	27	6383	c.5753A>C	c.(5752-5754)gAa>gCa	p.E1918A	ZNF638_ENST00000409407.1_Splice_Site_p.E858A|ZNF638_ENST00000264447.4_Splice_Site_p.E1918A|ZNF638_ENST00000355812.3_3'UTR	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638	1918					RNA splicing	cytoplasm|nuclear speck	double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						TATCCTCTAGAATTAGACTTT	0.363													5	172					0	0	1	0	0	C	71660295	A	C	71660295	5	2	81	1	0	0	0	0	0	0	1	0	18112	260	9	5	5855	5	ZNF638	2	71660295	Splice_Site	SNP	A	TCGA-DU-6392-01A-11D-1705-08	33576	71660295	171539078	1915	5531											
DYSF	8291	broad.mit.edu	37	2	71776489	71776489	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:71776489C>T	ENST00000258104.3	+	17	1767	c.1490C>T	c.(1489-1491)gCa>gTa	p.A497V	DYSF_ENST00000409366.1_Missense_Mutation_p.A498V|DYSF_ENST00000409582.3_Intron|DYSF_ENST00000413539.2_Missense_Mutation_p.A528V|DYSF_ENST00000429174.2_Missense_Mutation_p.A497V|DYSF_ENST00000394120.2_Missense_Mutation_p.A498V|DYSF_ENST00000409744.1_Intron|DYSF_ENST00000409762.1_Intron|DYSF_ENST00000410020.3_Intron|DYSF_ENST00000409651.1_Missense_Mutation_p.A529V|DYSF_ENST00000410041.1_Intron	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	497						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						GAGGAGCCTGCAGGTGCTGTC	0.577													5	7					0	0	1	0	0	T	71776489	C	T	71776489	3	4	81	1	0	0	0	0	1	0	0	0	4885	710	25	2	1748	2	DYSF	2	71776489	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	116194	71776489	171422884	1916	5532											
DYSF	8291	broad.mit.edu	37	2	71795164	71795164	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:71795164G>T	ENST00000258104.3	+	25	2872	c.2595G>T	c.(2593-2595)aaG>aaT	p.K865N	DYSF_ENST00000409366.1_Missense_Mutation_p.K866N|DYSF_ENST00000409582.3_Missense_Mutation_p.K882N|DYSF_ENST00000413539.2_Missense_Mutation_p.K896N|DYSF_ENST00000429174.2_Missense_Mutation_p.K865N|DYSF_ENST00000394120.2_Missense_Mutation_p.K866N|DYSF_ENST00000409744.1_Missense_Mutation_p.K852N|DYSF_ENST00000409762.1_Missense_Mutation_p.K882N|DYSF_ENST00000410020.3_Missense_Mutation_p.K883N|DYSF_ENST00000409651.1_Missense_Mutation_p.K897N|DYSF_ENST00000410041.1_Missense_Mutation_p.K883N	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	865						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						TGGATGAGAAGGAGTTCAACC	0.582													7	75					0.00307968	0.00324365	1	1	0	T	71795164	G	T	71795164	3	4	81	1	0	0	0	0	1	0	0	0	4885	991	35	4	2885	4	DYSF	2	71795164	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	18675	71795164	171404209	1917	5533											
DYSF	8291	broad.mit.edu	37	2	71801428	71801428	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:71801428G>A	ENST00000258104.3	+	30	3552	c.3275G>A	c.(3274-3276)cGc>cAc	p.R1092H	DYSF_ENST00000409366.1_Missense_Mutation_p.R1093H|DYSF_ENST00000409582.3_Missense_Mutation_p.R1109H|DYSF_ENST00000413539.2_Missense_Mutation_p.R1123H|DYSF_ENST00000429174.2_Missense_Mutation_p.R1092H|DYSF_ENST00000394120.2_Missense_Mutation_p.R1093H|DYSF_ENST00000409744.1_Missense_Mutation_p.R1079H|DYSF_ENST00000409762.1_Missense_Mutation_p.R1109H|DYSF_ENST00000410020.3_Missense_Mutation_p.R1110H|DYSF_ENST00000409651.1_Missense_Mutation_p.R1124H|DYSF_ENST00000410041.1_Missense_Mutation_p.R1110H	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1092	Arg-rich.					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						TTCCGCCGCCGCCGCTGGCGC	0.662													46	77					0	0	1	0	0	A	71801428	G	A	71801428	3	1	81	1	0	0	0	0	1	0	0	0	4885	1087	38	1	3585	1	DYSF	2	71801428	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	6264	71801428	171397945	1918	5534											
DYSF	8291	broad.mit.edu	37	2	71838445	71838445	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:71838445T>A	ENST00000258104.3	+	37	4251	c.3974T>A	c.(3973-3975)aTc>aAc	p.I1325N	DYSF_ENST00000409366.1_Missense_Mutation_p.I1326N|DYSF_ENST00000409582.3_Missense_Mutation_p.I1342N|DYSF_ENST00000413539.2_Missense_Mutation_p.I1356N|DYSF_ENST00000429174.2_Missense_Mutation_p.I1325N|DYSF_ENST00000394120.2_Missense_Mutation_p.I1326N|DYSF_ENST00000409744.1_Missense_Mutation_p.I1312N|DYSF_ENST00000409762.1_Missense_Mutation_p.I1342N|DYSF_ENST00000410020.3_Missense_Mutation_p.I1343N|DYSF_ENST00000409651.1_Missense_Mutation_p.I1357N|DYSF_ENST00000410041.1_Missense_Mutation_p.I1343N|DYSF_ENST00000479049.2_3'UTR	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1325			I -> M (in a breast cancer sample; somatic mutation).|I -> V.			cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						CCTCAGAACATCAAGCCAGCG	0.637													4	16					0	0	1	0	0	A	71838445	T	A	71838445	3	1	81	1	0	0	0	0	1	0	0	0	4885	1435	50	4	4312	4	DYSF	2	71838445	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	37017	71838445	171360928	1919	5535											
DYSF	8291	broad.mit.edu	37	2	71906211	71906211	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:71906211G>A	ENST00000258104.3	+	52	6069	c.5792G>A	c.(5791-5793)cGc>cAc	p.R1931H	DYSF_ENST00000409366.1_Missense_Mutation_p.R1953H|DYSF_ENST00000409582.3_Missense_Mutation_p.R1969H|DYSF_ENST00000413539.2_Missense_Mutation_p.R1962H|DYSF_ENST00000429174.2_Missense_Mutation_p.R1952H|DYSF_ENST00000394120.2_Missense_Mutation_p.R1932H|DYSF_ENST00000409744.1_Missense_Mutation_p.R1939H|DYSF_ENST00000409762.1_Missense_Mutation_p.R1948H|DYSF_ENST00000410020.3_Missense_Mutation_p.R1970H|DYSF_ENST00000409651.1_Missense_Mutation_p.R1963H|DYSF_ENST00000410041.1_Missense_Mutation_p.R1949H|DYSF_ENST00000479049.2_3'UTR	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1931						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						GATCTCAACCGCATGCCCAAG	0.547													10	19					0	0	1	0	0	A	71906211	G	A	71906211	3	1	81	1	0	0	0	0	1	0	0	0	4885	1087	38	1	6257	1	DYSF	2	71906211	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	67766	71906211	171293162	1920	5536											
DYSF	8291	broad.mit.edu	37	2	71908241	71908241	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:71908241G>A	ENST00000258104.3	+	53	6333		c.e53+1		DYSF_ENST00000409366.1_Splice_Site|DYSF_ENST00000409582.3_Splice_Site|DYSF_ENST00000413539.2_Splice_Site|DYSF_ENST00000429174.2_Splice_Site|DYSF_ENST00000394120.2_Splice_Site|DYSF_ENST00000409744.1_Splice_Site|DYSF_ENST00000409762.1_Splice_Site|DYSF_ENST00000410020.3_Splice_Site|DYSF_ENST00000409651.1_Splice_Site|DYSF_ENST00000410041.1_Splice_Site|DYSF_ENST00000479049.2_Splice_Site	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin							cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						AGGACCCAAGGTCAGTGCCCA	0.587													9	11					0	0	1	0	0	A	71908241	G	A	71908241	5	1	81	1	0	0	0	0	0	0	1	0	4885	1275	44	2	6526	2	DYSF	2	71908241	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2030	71908241	171291132	1921	5537											
CYP26B1	56603	broad.mit.edu	37	2	72359652	72359652	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:72359652C>T	ENST00000001146.2	-	6	1446	c.1243G>A	c.(1243-1245)Gat>Aat	p.D415N	CYP26B1_ENST00000412253.1_Missense_Mutation_p.D224N|CYP26B1_ENST00000546307.1_Missense_Mutation_p.D340N	NM_001277742.1|NM_019885.2	NP_001264671.1|NP_063938.1	Q9NR63	CP26B_HUMAN	cytochrome P450, family 26, subfamily B, polypeptide 1	415					cell fate determination|embryonic limb morphogenesis|male meiosis|negative regulation of retinoic acid receptor signaling pathway|proximal/distal pattern formation|retinoic acid catabolic process|spermatogenesis|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding			breast(1)|kidney(3)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)	28						CTGAAGCGATCGGGGTCGAAC	0.617													12	20					0	0	1	0	0	T	72359652	C	T	72359652	3	4	81	1	0	0	0	0	1	0	0	0	4179	884	31	1	299	1	CYP26B1	2	72359652	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	451411	72359652	170839721	1922	5538											
CYP26B1	56603	broad.mit.edu	37	2	72360211	72360211	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:72360211G>A	ENST00000001146.2	-	5	1290	c.1087C>T	c.(1087-1089)Cgc>Tgc	p.R363C	CYP26B1_ENST00000412253.1_Missense_Mutation_p.R172C|CYP26B1_ENST00000546307.1_Missense_Mutation_p.R288C	NM_001277742.1|NM_019885.2	NP_001264671.1|NP_063938.1	Q9NR63	CP26B_HUMAN	cytochrome P450, family 26, subfamily B, polypeptide 1	363					cell fate determination|embryonic limb morphogenesis|male meiosis|negative regulation of retinoic acid receptor signaling pathway|proximal/distal pattern formation|retinoic acid catabolic process|spermatogenesis|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding			breast(1)|kidney(3)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)	28						GTGAACAGGCGCATGACCTCC	0.672													13	24					0	0	1	0	0	A	72360211	G	A	72360211	3	1	81	1	0	0	0	0	1	0	0	0	4179	1087	38	1	459	1	CYP26B1	2	72360211	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	559	72360211	170839162	1923	5539											
CYP26B1	56603	broad.mit.edu	37	2	72360435	72360435	+	Splice_Site	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:72360435T>C	ENST00000001146.2	-	5	1066	c.863A>G	c.(862-864)gAc>gGc	p.D288G	CYP26B1_ENST00000412253.1_Splice_Site_p.D97G|CYP26B1_ENST00000546307.1_Splice_Site_p.D213G	NM_001277742.1|NM_019885.2	NP_001264671.1|NP_063938.1	Q9NR63	CP26B_HUMAN	cytochrome P450, family 26, subfamily B, polypeptide 1	288					cell fate determination|embryonic limb morphogenesis|male meiosis|negative regulation of retinoic acid receptor signaling pathway|proximal/distal pattern formation|retinoic acid catabolic process|spermatogenesis|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding			breast(1)|kidney(3)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)	28						CAGGGTCCCGTCCTGCAGGGC	0.637													6	7					0	0	1	0	0	C	72360435	T	C	72360435	5	2	81	1	0	0	0	0	0	0	1	0	4179	1681	58	3	683	3	CYP26B1	2	72360435	Splice_Site	SNP	T	TCGA-DU-6392-01A-11D-1705-08	224	72360435	170838938	1924	5540											
SFXN5	94097	broad.mit.edu	37	2	73172191	73172191	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:73172191G>A	ENST00000272433.2	-	14	1113	c.983C>T	c.(982-984)gCc>gTc	p.A328V	SFXN5_ENST00000410065.1_3'UTR|SFXN5_ENST00000474528.1_5'UTR	NM_144579.2	NP_653180.1	Q8TD22	SFXN5_HUMAN	sideroflexin 5	328					iron ion homeostasis	integral to membrane	cation transmembrane transporter activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)	9						GCTGCTCGTGGCCTGGGCTAT	0.612													11	10					0	0	1	0	0	A	73172191	G	A	73172191	3	1	81	1	0	0	0	0	1	0	0	0	14252	1203	42	2	43	2	SFXN5	2	73172191	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	811756	73172191	170027182	1925	5541											
SFXN5	94097	broad.mit.edu	37	2	73249650	73249650	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:73249650C>A	ENST00000272433.2	-	5	462		c.e5+1		SFXN5_ENST00000410065.1_Splice_Site|SFXN5_ENST00000474528.1_Splice_Site	NM_144579.2	NP_653180.1	Q8TD22	SFXN5_HUMAN	sideroflexin 5						iron ion homeostasis	integral to membrane	cation transmembrane transporter activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)	9						CAGGAGCTTACCTGACATTCT	0.547													6	10					3.59834e-05	3.99423e-05	1	1	0	A	73249650	C	A	73249650	5	1	81	1	0	0	0	0	0	0	1	0	14252	521	18	5	730	5	SFXN5	2	73249650	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	77459	73249650	169949723	1926	5542											
RAB11FIP5	26056	broad.mit.edu	37	2	73316022	73316022	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:73316022G>A	ENST00000258098.6	-	2	1093	c.853C>T	c.(853-855)Ctg>Ttg	p.L285L	RAB11FIP5_ENST00000493523.2_5'UTR	NM_015470.2	NP_056285.1	Q9BXF6	RFIP5_HUMAN	RAB11 family interacting protein 5 (class I)	285					protein transport	mitochondrial outer membrane|recycling endosome membrane	gamma-tubulin binding			biliary_tract(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	23						TCAGTGGACAGCCAGCTGCTA	0.687													6	14					0	0	1	0	0	A	73316022	G	A	73316022	2	1	81	1	0	0	0	0	0	0	0	1	12949	962	34	2		2	RAB11FIP5	2	73316022	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	66372	73316022	169883351	1927	5543											
RAB11FIP5	26056	broad.mit.edu	37	2	73316066	73316066	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:73316066G>T	ENST00000258098.6	-	2	1049	c.809C>A	c.(808-810)cCt>cAt	p.P270H	RAB11FIP5_ENST00000493523.2_5'UTR	NM_015470.2	NP_056285.1	Q9BXF6	RFIP5_HUMAN	RAB11 family interacting protein 5 (class I)	270					protein transport	mitochondrial outer membrane|recycling endosome membrane	gamma-tubulin binding			biliary_tract(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	23						TTCGGCGCCAGGTCCCTGGTA	0.682													13	17					0.00185496	0.00197056	1	1	0	T	73316066	G	T	73316066	3	4	81	1	0	0	0	0	1	0	0	0	12949	1000	35	4	1168	4	RAB11FIP5	2	73316066	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	44	73316066	169883307	1928	5544											
SMYD5	10322	broad.mit.edu	37	2	73446052	73446052	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:73446052C>T	ENST00000389501.4	+	2	205	c.160C>T	c.(160-162)Ctg>Ttg	p.L54L	SMYD5_ENST00000474652.1_3'UTR	NM_006062.2	NP_006053.2	Q6GMV2	SMYD5_HUMAN	SMYD family member 5	54							metal ion binding			NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	13						AGAACGGCCCCTGGTGGCTGC	0.542													9	18					0	0	1	0	0	T	73446052	C	T	73446052	2	4	81	1	0	0	0	0	0	0	0	1	14879	680	24	2		2	SMYD5	2	73446052	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	129986	73446052	169753321	1929	5545											
CCT7	10574	broad.mit.edu	37	2	73470241	73470241	+	Missense_Mutation	SNP	G	G	A	rs11544996		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:73470241G>A	ENST00000539919.1	+	5	616	c.245G>A	c.(244-246)cGc>cAc	p.R82H	CCT7_ENST00000258091.5_Missense_Mutation_p.R126H|CCT7_ENST00000398422.2_Intron|CCT7_ENST00000540468.1_Missense_Mutation_p.R39H|CCT7_ENST00000473786.1_3'UTR|CCT7_ENST00000538797.1_Missense_Mutation_p.A16T|CCT7_ENST00000537131.1_Missense_Mutation_p.R26H	NM_001166285.1	NP_001159757.1	Q99832	TCPH_HUMAN	chaperonin containing TCP1, subunit 7 (eta)	126					'de novo' posttranslational protein folding		ATP binding|unfolded protein binding			breast(1)|cervix(1)|endometrium(1)|lung(3)|stomach(1)	7						CGAGCTTTCCGCACAGCCACC	0.512													34	46					0	0	1	0	0	A	73470241	G	A	73470241	3	1	81	1	0	0	0	0	1	0	0	0	2981	1087	38	1	391	1	CCT7	2	73470241	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	24189	73470241	169729132	1930	5546											
ALMS1	7840	broad.mit.edu	37	2	73675915	73675915	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:73675915C>A	ENST00000264448.6	+	8	2369	c.2258C>A	c.(2257-2259)aCt>aAt	p.T753N	ALMS1_ENST00000409009.1_Missense_Mutation_p.T711N|ALMS1_ENST00000377715.1_Missense_Mutation_p.T753N	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	753	34 X 47 AA approximate tandem repeat.				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						GACCAGAAGACTGAGATACCA	0.438													22	194					7.41877e-09	8.87549e-09	1	1	0	A	73675915	C	A	73675915	3	1	81	1	0	0	0	0	1	0	0	0	531	565	20	4	2288	4	ALMS1	2	73675915	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	205674	73675915	169523458	1931	5547											
ALMS1	7840	broad.mit.edu	37	2	73677079	73677079	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:73677079C>T	ENST00000264448.6	+	8	3533	c.3422C>T	c.(3421-3423)aCt>aTt	p.T1141I	ALMS1_ENST00000409009.1_Missense_Mutation_p.T1099I|ALMS1_ENST00000377715.1_Missense_Mutation_p.T1141I	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	1141	34 X 47 AA approximate tandem repeat.				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						GTAACCTCAACTTCCTACTCA	0.478													64	99					0	0	1	0	0	T	73677079	C	T	73677079	3	4	81	1	0	0	0	0	1	0	0	0	531	565	20	2	3452	2	ALMS1	2	73677079	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1164	73677079	169522294	1932	5548											
ALMS1	7840	broad.mit.edu	37	2	73677140	73677140	+	Silent	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:73677140T>A	ENST00000264448.6	+	8	3594	c.3483T>A	c.(3481-3483)acT>acA	p.T1161T	ALMS1_ENST00000409009.1_Silent_p.T1119T|ALMS1_ENST00000377715.1_Silent_p.T1161T	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	1161	34 X 47 AA approximate tandem repeat.				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						TGCCAGGTACTCATATACCTG	0.463													19	180					0	0	1	0	0	A	73677140	T	A	73677140	2	1	81	1	0	0	0	0	0	0	0	1	531	1538	54	5		5	ALMS1	2	73677140	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	61	73677140	169522233	1933	5549											
ALMS1	7840	broad.mit.edu	37	2	73717414	73717414	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:73717414G>A	ENST00000264448.6	+	10	8436	c.8325G>A	c.(8323-8325)atG>atA	p.M2775I	ALMS1_ENST00000409009.1_Missense_Mutation_p.M2733I	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	2775					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						CATTTAAAATGCATAGTAATT	0.358													18	61					0	0	1	0	0	A	73717414	G	A	73717414	3	1	81	1	0	0	0	0	1	0	0	0	531	1319	46	2	8363	2	ALMS1	2	73717414	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	40274	73717414	169481959	1934	5550											
ALMS1	7840	broad.mit.edu	37	2	73717916	73717916	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:73717916G>T	ENST00000264448.6	+	10	8938	c.8827G>T	c.(8827-8829)Gaa>Taa	p.E2943*	ALMS1_ENST00000409009.1_Nonsense_Mutation_p.E2901*	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	2943					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						TCAAATGAGAGAAAACCATTC	0.438													11	170					9.70103e-10	1.17698e-09	1	1	0	T	73717916	G	T	73717916	4	4	81	1	0	0	0	0	0	1	0	0	531	943	33	4	8865	4	ALMS1	2	73717916	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	502	73717916	169481457	1935	5551											
ALMS1	7840	broad.mit.edu	37	2	73717968	73717968	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:73717968C>T	ENST00000264448.6	+	10	8990	c.8879C>T	c.(8878-8880)cCg>cTg	p.P2960L	ALMS1_ENST00000409009.1_Missense_Mutation_p.P2918L	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	2960					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						TCAGACCTTCCGTCTCCCATT	0.438													47	95					0	0	1	0	0	T	73717968	C	T	73717968	3	4	81	1	0	0	0	0	1	0	0	0	531	652	23	1	8917	1	ALMS1	2	73717968	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	52	73717968	169481405	1936	5552											
ALMS1	7840	broad.mit.edu	37	2	73829483	73829483	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:73829483C>T	ENST00000264448.6	+	20	12394	c.12283C>T	c.(12283-12285)Ctg>Ttg	p.L4095L	ALMS1_ENST00000409009.1_Silent_p.L4053L|ALMS1_ENST00000464408.2_3'UTR	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	4095					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						CATGTGCCCGCTGCCCAAGAG	0.582													6	42					0	0	1	0	0	T	73829483	C	T	73829483	2	4	81	1	0	0	0	0	0	0	0	1	531	796	28	2		2	ALMS1	2	73829483	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	111515	73829483	169369890	1937	5553											
TPRKB	51002	broad.mit.edu	37	2	73957782	73957783	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:73957782_73957783insT	ENST00000318190.7	-	5	582_583	c.462_463insA	c.(460-465)aaacaafs	p.Q155fs	TPRKB_ENST00000485758.1_5'UTR|TPRKB_ENST00000272424.5_Frame_Shift_Ins_p.Q116fs|TPRKB_ENST00000409716.2_Frame_Shift_Ins_p.Q155fs			Q9Y3C4	TPRKB_HUMAN	TP53RK binding protein	116					protein catabolic process	cytosol|nucleus	protein kinase binding			lung(2)|ovary(1)|skin(1)	4						TGATTTATTTGTTTTTCTCCCT	0.292													22	59	---	---	---	---						T	73957783	-	T	73957782	7	5	81	1	0	1	1	0	0	0	0	0	16481	1386	48	0	189	0	TPRKB	2	73957782	Frame_Shift_Ins	INS	-	TCGA-DU-6392-01A-11D-1705-08	128299	73957782	169241591	1938	5554											
C2orf78	388960	broad.mit.edu	37	2	74041293	74041293	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:74041293T>A	ENST00000409561.1	+	2	908	c.787T>A	c.(787-789)Tct>Act	p.S263T		NM_001080474.1	NP_001073943.1	A6NCI8	CB078_HUMAN	chromosome 2 open reading frame 78	263										cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1)	34						ACCACCAGTCTCTACTTCTGG	0.463													15	102					0	0	1	0	0	A	74041293	T	A	74041293	3	1	81	1	0	0	0	0	1	0	0	0	2209	1551	54	5	793	5	C2orf78	2	74041293	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	83511	74041293	169158080	1939	5555											
C2orf78	388960	broad.mit.edu	37	2	74042505	74042505	+	Silent	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:74042505T>A	ENST00000409561.1	+	3	1276	c.1155T>A	c.(1153-1155)ccT>ccA	p.P385P		NM_001080474.1	NP_001073943.1	A6NCI8	CB078_HUMAN	chromosome 2 open reading frame 78	385										cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1)	34						ATCAAGATCCTCCACTACTTC	0.438													12	25					0	0	1	0	0	A	74042505	T	A	74042505	2	1	81	1	0	0	0	0	0	0	0	1	2209	1538	54	5		5	C2orf78	2	74042505	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	1212	74042505	169156868	1940	5556											
TET3	200424	broad.mit.edu	37	2	74274574	74274574	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:74274574G>T	ENST00000409262.3	+	1	1125	c.1125G>T	c.(1123-1125)gaG>gaT	p.E375D		NM_144993.1	NP_659430.1	O43151	TET3_HUMAN	tet methylcytosine dioxygenase 3	375							metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						TTCAGAGGGAGGCTCCCACGC	0.662													11	10					1.58986e-06	1.82794e-06	1	1	0	T	74274574	G	T	74274574	3	4	81	1	0	0	0	0	1	0	0	0	15830	991	35	4	1127	4	TET3	2	74274574	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	232069	74274574	168924799	1941	5557											
TET3	200424	broad.mit.edu	37	2	74274917	74274917	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:74274917C>T	ENST00000409262.3	+	1	1468	c.1468C>T	c.(1468-1470)Cga>Tga	p.R490*		NM_144993.1	NP_659430.1	O43151	TET3_HUMAN	tet methylcytosine dioxygenase 3	490							metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CCCACCTGTCCGACAGATTGT	0.627													7	8					0	0	1	0	0	T	74274917	C	T	74274917	4	4	81	1	0	0	0	0	0	1	0	0	15830	644	23	1	1470	1	TET3	2	74274917	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	343	74274917	168924456	1942	5558											
TET3	200424	broad.mit.edu	37	2	74275219	74275219	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:74275219C>T	ENST00000409262.3	+	1	1770	c.1770C>T	c.(1768-1770)ccC>ccT	p.P590P		NM_144993.1	NP_659430.1	O43151	TET3_HUMAN	tet methylcytosine dioxygenase 3	590							metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						TTGGGCTTCCCGGCCCCCCTT	0.592													11	13					0	0	1	0	0	T	74275219	C	T	74275219	2	4	81	1	0	0	0	0	0	0	0	1	15830	639	23	1		1	TET3	2	74275219	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	302	74275219	168924154	1943	5559											
MTHFD2	10797	broad.mit.edu	37	2	74432916	74432916	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:74432916C>A	ENST00000394053.2	+	2	266	c.186C>A	c.(184-186)gcC>gcA	p.A62A	MTHFD2_ENST00000264090.4_Intron|MTHFD2_ENST00000409804.1_Silent_p.A62A|MTHFD2_ENST00000477455.1_3'UTR|MTHFD2_ENST00000409601.1_Silent_p.A62A|MTHFD2_ENST00000394050.3_Intron	NM_006636.3	NP_006627.2	P13995	MTDC_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase	62					folic acid-containing compound biosynthetic process|one-carbon metabolic process|tetrahydrofolate metabolic process	mitochondrion	magnesium ion binding|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase (NAD+) activity|methylenetetrahydrofolate dehydrogenase (NADP+) activity|phosphate binding|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6					NADH(DB00157)|Tetrahydrofolic acid(DB00116)	AGTGGGTGGCCTCAGGCAACA	0.537													14	32					4.3838e-07	5.09097e-07	1	1	0	A	74432916	C	A	74432916	2	1	81	1	0	0	0	0	0	0	0	1	9977	668	24	4		4	MTHFD2	2	74432916	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	157697	74432916	168766457	1944	5560											
SLC4A5	57835	broad.mit.edu	37	2	74452104	74452104	+	Missense_Mutation	SNP	C	C	T	rs144930405	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:74452104C>T	ENST00000394019.2	-	28	3506	c.3109G>A	c.(3109-3111)Gtt>Att	p.V1037I	SLC4A5_ENST00000423644.1_Missense_Mutation_p.R977H|SLC4A5_ENST00000346834.4_Missense_Mutation_p.V956I|SLC4A5_ENST00000357822.5_Missense_Mutation_p.V1053I|SLC4A5_ENST00000359484.4_Missense_Mutation_p.V935I|SLC4A5_ENST00000377634.4_Missense_Mutation_p.V1053I|RP11-287D1.3_ENST00000451608.2_3'UTR|SLC4A5_ENST00000377632.1_Missense_Mutation_p.V956I|SLC4A5_ENST00000358683.4_Missense_Mutation_p.V935I|SLC4A5_ENST00000483195.1_5'UTR	NM_133478.2	NP_597812.1	Q9BY07	S4A5_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 5	1053						apical plasma membrane|integral to membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity			breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						AGCCTTCGAACGATGATGAGG	0.453													12	22					0	0	1	0	0	T	74452104	C	T	74452104	3	4	81	1	0	0	0	0	1	0	0	0	14712	536	19	1	268	1	SLC4A5	2	74452104	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	19188	74452104	168747269	1945	5561											
SLC4A5	57835	broad.mit.edu	37	2	74466478	74466478	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:74466478C>T	ENST00000394019.2	-	21	2700	c.2303G>A	c.(2302-2304)cGc>cAc	p.R768H	SLC4A5_ENST00000423644.1_Missense_Mutation_p.R768H|SLC4A5_ENST00000346834.4_Missense_Mutation_p.R768H|SLC4A5_ENST00000357822.5_Missense_Mutation_p.R768H|SLC4A5_ENST00000359484.4_Missense_Mutation_p.R704H|SLC4A5_ENST00000377634.4_Missense_Mutation_p.R768H|RP11-287D1.3_ENST00000451608.2_3'UTR|SLC4A5_ENST00000377632.1_Missense_Mutation_p.R768H|SLC4A5_ENST00000358683.4_Missense_Mutation_p.R704H|SLC4A5_ENST00000483195.1_5'UTR	NM_133478.2	NP_597812.1	Q9BY07	S4A5_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 5	768						apical plasma membrane|integral to membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity			breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						AGGAAAATAGCGGCTGAATTT	0.522													15	23					0	0	1	0	0	T	74466478	C	T	74466478	3	4	81	1	0	0	0	0	1	0	0	0	14712	768	27	1	1154	1	SLC4A5	2	74466478	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	14374	74466478	168732895	1946	5562											
INO80B	83444	broad.mit.edu	37	2	74683276	74683276	+	Silent	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:74683276A>C	ENST00000233331.7	+	4	511	c.417A>C	c.(415-417)ggA>ggC	p.G139G	INO80B_ENST00000409917.1_Silent_p.G139G|INO80B_ENST00000469849.1_3'UTR	NM_031288.3	NP_112578.2	Q9C086	IN80B_HUMAN	INO80 complex subunit B	139					DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex|nucleolus	metal ion binding|protein binding			endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	13						ACCTATCAGGAGGGTTAGGGG	0.517													16	27					0	0	1	0	0	C	74683276	A	C	74683276	2	2	81	1	0	0	0	0	0	0	0	1	7791	291	11	5		5	INO80B	2	74683276	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	216798	74683276	168516097	1947	5563											
MOGS	7841	broad.mit.edu	37	2	74688581	74688581	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:74688581G>A	ENST00000233616.4	-	4	2497	c.2335C>T	c.(2335-2337)Cgg>Tgg	p.R779W	MOGS_ENST00000409065.1_3'UTR|MOGS_ENST00000452063.2_Missense_Mutation_p.R673W	NM_006302.2	NP_006293.2	Q13724	MOGS_HUMAN	mannosyl-oligosaccharide glucosidase	779					oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane|membrane fraction	mannosyl-oligosaccharide glucosidase activity			cervix(1)|endometrium(6)|large_intestine(3)|lung(10)|prostate(1)|urinary_tract(2)	23						TTGGCAGCCCGAGCCTGGTGA	0.597													28	50					0	0	1	0	0	A	74688581	G	A	74688581	3	1	81	1	0	0	0	0	1	0	0	0	9746	1057	37	1	182	1	MOGS	2	74688581	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	5305	74688581	168510792	1948	5564											
MOGS	7841	broad.mit.edu	37	2	74689080	74689080	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:74689080C>T	ENST00000233616.4	-	4	1998	c.1836G>A	c.(1834-1836)acG>acA	p.T612T	MOGS_ENST00000409065.1_3'UTR|MOGS_ENST00000452063.2_Silent_p.T506T	NM_006302.2	NP_006293.2	Q13724	MOGS_HUMAN	mannosyl-oligosaccharide glucosidase	612					oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane|membrane fraction	mannosyl-oligosaccharide glucosidase activity			cervix(1)|endometrium(6)|large_intestine(3)|lung(10)|prostate(1)|urinary_tract(2)	23						CTGCCAGCCGCGTCAGCACAC	0.657													23	40					0	0	1	0	0	T	74689080	C	T	74689080	2	4	81	1	0	0	0	0	0	0	0	1	9746	755	27	1		1	MOGS	2	74689080	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	499	74689080	168510293	1949	5565											
MOGS	7841	broad.mit.edu	37	2	74689222	74689222	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:74689222C>T	ENST00000233616.4	-	4	1856	c.1694G>A	c.(1693-1695)cGg>cAg	p.R565Q	MOGS_ENST00000409065.1_3'UTR|MOGS_ENST00000452063.2_Missense_Mutation_p.R459Q	NM_006302.2	NP_006293.2	Q13724	MOGS_HUMAN	mannosyl-oligosaccharide glucosidase	565					oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane|membrane fraction	mannosyl-oligosaccharide glucosidase activity			cervix(1)|endometrium(6)|large_intestine(3)|lung(10)|prostate(1)|urinary_tract(2)	23						GGCAGGGTCCCGTCCCCGCCA	0.627													49	67					0	0	1	0	0	T	74689222	C	T	74689222	3	4	81	1	0	0	0	0	1	0	0	0	9746	652	23	1	823	1	MOGS	2	74689222	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	142	74689222	168510151	1950	5566											
MOGS	7841	broad.mit.edu	37	2	74689915	74689915	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:74689915A>G	ENST00000233616.4	-	4	1163	c.1001T>C	c.(1000-1002)tTt>tCt	p.F334S	MOGS_ENST00000462443.1_5'UTR|MOGS_ENST00000409065.1_3'UTR|MOGS_ENST00000452063.2_Missense_Mutation_p.F228S	NM_006302.2	NP_006293.2	Q13724	MOGS_HUMAN	mannosyl-oligosaccharide glucosidase	334					oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane|membrane fraction	mannosyl-oligosaccharide glucosidase activity			cervix(1)|endometrium(6)|large_intestine(3)|lung(10)|prostate(1)|urinary_tract(2)	23						TTCAAACACAAACTCTATGGA	0.562													12	138					0	0	1	0	0	G	74689915	A	G	74689915	3	3	81	1	0	0	0	0	1	0	0	0	9746	14	1	3	1516	3	MOGS	2	74689915	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	693	74689915	168509458	1951	5567											
CCDC142	84865	broad.mit.edu	37	2	74709259	74709259	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:74709259G>T	ENST00000393965.3	-	1	1102	c.706C>A	c.(706-708)Ctc>Atc	p.L236I	CCDC142_ENST00000471713.1_5'UTR|CCDC142_ENST00000290418.4_Missense_Mutation_p.L236I	NM_032779.3	NP_116168.3	Q17RM4	CC142_HUMAN	coiled-coil domain containing 142	236										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	16						AAGAGGCGGAGCACACGGGAC	0.667													6	41					0.0215528	0.0221217	1	1	0	T	74709259	G	T	74709259	3	4	81	1	0	0	0	0	1	0	0	0	2794	971	34	4	1561	4	CCDC142	2	74709259	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	19344	74709259	168490114	1952	5568											
DOK1	1796	broad.mit.edu	37	2	74783985	74783985	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:74783985G>A	ENST00000233668.5	+	5	1859	c.1190G>A	c.(1189-1191)gGc>gAc	p.G397D	DOK1_ENST00000480318.1_3'UTR|DOK1_ENST00000340004.6_3'UTR|DOK1_ENST00000409429.1_Missense_Mutation_p.G258D	NM_001381.3	NP_001372.1	Q99704	DOK1_HUMAN	docking protein 1, 62kDa (downstream of tyrosine kinase 1)	397	Pro-rich.				fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway	cytosol|perinuclear region of cytoplasm	insulin receptor binding			endometrium(3)|large_intestine(2)|liver(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						AAGGAGGAGGGCTATGAGCTC	0.647													7	140					0	0	1	0	0	A	74783985	G	A	74783985	3	1	81	1	0	0	0	0	1	0	0	0	4723	1203	42	2	1208	2	DOK1	2	74783985	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	74726	74783985	168415388	1953	5569											
SEMA4F	10505	broad.mit.edu	37	2	74902971	74902971	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:74902971G>T	ENST00000357877.2	+	12	1727	c.1578G>T	c.(1576-1578)caG>caT	p.Q526H	SEMA4F_ENST00000473350.1_3'UTR|SEMA4F_ENST00000339773.5_Missense_Mutation_p.Q371H	NM_004263.3	NP_004254.2	O95754	SEM4F_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4F	526	PSI.				cell-cell signaling	endoplasmic reticulum|integral to plasma membrane	receptor activity			biliary_tract(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	45						TCCTGGCCCAGGACCCAGTCT	0.587													22	33					1.55795e-14	1.97772e-14	1	1	0	T	74902971	G	T	74902971	3	4	81	1	0	0	0	0	1	0	0	0	14089	991	35	4	1624	4	SEMA4F	2	74902971	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	118986	74902971	168296402	1954	5570											
HK2	3099	broad.mit.edu	37	2	75107511	75107511	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:75107511G>A	ENST00000290573.2	+	10	1985	c.1385G>A	c.(1384-1386)cGg>cAg	p.R462Q	HK2_ENST00000409174.1_Missense_Mutation_p.R434Q	NM_000189.4	NP_000180.2	P52789	HXK2_HUMAN	hexokinase 2	462	Regulatory.				apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane	ATP binding|glucokinase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	43						GTGGCTTACCGGCTGGCCGAT	0.612													38	59					0	0	1	0	0	A	75107511	G	A	75107511	3	1	81	1	0	0	0	0	1	0	0	0	7232	1116	39	1	1423	1	HK2	2	75107511	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	204540	75107511	168091862	1955	5571											
HK2	3099	broad.mit.edu	37	2	75113686	75113686	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:75113686G>A	ENST00000290573.2	+	15	2705	c.2105G>A	c.(2104-2106)cGg>cAg	p.R702Q	HK2_ENST00000409174.1_Missense_Mutation_p.R674Q	NM_000189.4	NP_000180.2	P52789	HXK2_HUMAN	hexokinase 2	702	Catalytic.				apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane	ATP binding|glucokinase activity	p.R702L(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	43						GAAGAGGGGCGGATGTGTGTG	0.557													29	51					0	0	1	0	0	A	75113686	G	A	75113686	3	1	81	1	0	0	0	0	1	0	0	0	7232	1116	39	1	2163	1	HK2	2	75113686	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	6175	75113686	168085687	1956	5572											
MRPL19	9801	broad.mit.edu	37	2	75879388	75879388	+	Splice_Site	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:75879388T>C	ENST00000393909.2	+	3	365		c.e3+2		MRPL19_ENST00000358788.6_Splice_Site|MRPL19_ENST00000409374.1_Splice_Site	NM_014763.3	NP_055578.2	P49406	RM19_HUMAN	mitochondrial ribosomal protein L19						translation	mitochondrion|nuclear membrane|ribosome	structural constituent of ribosome			kidney(1)|large_intestine(1)|lung(6)	8						TCTATGTTGGTCAGTAAGAGC	0.323													25	72					0	0	1	0	0	C	75879388	T	C	75879388	5	2	81	1	0	0	0	0	0	0	1	0	9833	1681	58	3	352	3	MRPL19	2	75879388	Splice_Site	SNP	T	TCGA-DU-6392-01A-11D-1705-08	765702	75879388	167319985	1957	5573											
MRPL19	9801	broad.mit.edu	37	2	75879745	75879745	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:75879745G>A	ENST00000393909.2	+	4	462	c.437G>A	c.(436-438)gGa>gAa	p.G146E	MRPL19_ENST00000358788.6_Missense_Mutation_p.G146E|MRPL19_ENST00000409374.1_Missense_Mutation_p.G146E	NM_014763.3	NP_055578.2	P49406	RM19_HUMAN	mitochondrial ribosomal protein L19	146					translation	mitochondrion|nuclear membrane|ribosome	structural constituent of ribosome			kidney(1)|large_intestine(1)|lung(6)	8						AGAGGACTTGGAGCTACTTTC	0.383													59	89					0	0	1	0	0	A	75879745	G	A	75879745	3	1	81	1	0	0	0	0	1	0	0	0	9833	1174	41	2	451	2	MRPL19	2	75879745	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	357	75879745	167319628	1958	5574											
LRRTM4	80059	broad.mit.edu	37	2	77745830	77745830	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:77745830T>C	ENST00000409088.3	-	3	1579	c.1165A>G	c.(1165-1167)Atc>Gtc	p.I389V	LRRTM4_ENST00000409884.1_Missense_Mutation_p.I389V|LRRTM4_ENST00000409282.1_Missense_Mutation_p.I390V|LRRTM4_ENST00000409093.1_Missense_Mutation_p.I389V|LRRTM4_ENST00000409911.1_Missense_Mutation_p.I390V	NM_001282928.1|NM_024993.4	NP_001269857.1|NP_079269.4	Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	389						integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		GGTTTGAAGATGGTAGGTCTA	0.473													4	52					0	0	1	0	0	C	77745830	T	C	77745830	3	2	81	1	0	0	0	0	1	0	0	0	9087	1464	51	3	621	3	LRRTM4	2	77745830	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	1866085	77745830	165453543	1959	5575											
CTNNA2	1496	broad.mit.edu	37	2	80874864	80874864	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:80874864C>T	ENST00000466387.1	+	22	3309	c.2585C>T	c.(2584-2586)gCt>gTt	p.A862V	CTNNA2_ENST00000402739.4_Missense_Mutation_p.A910V|CTNNA2_ENST00000343114.3_Missense_Mutation_p.A541V|CTNNA2_ENST00000540488.1_Missense_Mutation_p.A817V|CTNNA2_ENST00000496558.1_Missense_Mutation_p.A862V|CTNNA2_ENST00000361291.4_Missense_Mutation_p.A896V|CTNNA2_ENST00000541047.1_Missense_Mutation_p.A862V			P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	910					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						AAGATGAAGGCTCCAGAGAAG	0.493													67	93					0	0	1	0	0	T	80874864	C	T	80874864	3	4	81	1	0	0	0	0	1	0	0	0	4037	797	28	2	2443	2	CTNNA2	2	80874864	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3129034	80874864	162324509	1960	5576											
KCMF1	56888	broad.mit.edu	37	2	85262220	85262220	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:85262220C>T	ENST00000409785.4	+	3	625	c.266C>T	c.(265-267)aCg>aTg	p.T89M		NM_020122.4	NP_064507.3	Q9P0J7	KCMF1_HUMAN	potassium channel modulatory factor 1							intracellular	ligase activity|zinc ion binding			ovary(3)	3						ATGGGCTATACGGAGACATCT	0.378													10	22					0	0	1	0	0	T	85262220	C	T	85262220	3	4	81	1	0	0	0	0	1	0	0	0	8044	536	19	1	276	1	KCMF1	2	85262220	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	4387356	85262220	157937153	1961	5577											
KCMF1	56888	broad.mit.edu	37	2	85280333	85280333	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:85280333G>A	ENST00000409785.4	+	7	1306	c.947G>A	c.(946-948)cGc>cAc	p.R316H		NM_020122.4	NP_064507.3	Q9P0J7	KCMF1_HUMAN	potassium channel modulatory factor 1							intracellular	ligase activity|zinc ion binding			ovary(3)	3						CGTGCAGACCGCAGCCTGTTT	0.468													11	16					0	0	1	0	0	A	85280333	G	A	85280333	3	1	81	1	0	0	0	0	1	0	0	0	8044	1087	38	1	973	1	KCMF1	2	85280333	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	18113	85280333	157919040	1962	5578											
RETSAT	54884	broad.mit.edu	37	2	85570391	85570391	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:85570391T>C	ENST00000295802.4	-	11	1919	c.1807A>G	c.(1807-1809)Atc>Gtc	p.I603V	RETSAT_ENST00000263854.6_3'UTR|RETSAT_ENST00000457495.2_Missense_Mutation_p.I542V	NM_017750.3	NP_060220.3	Q6NUM9	RETST_HUMAN	retinol saturase (all-trans-retinol 13,14-reductase)	603					retinol metabolic process	endoplasmic reticulum membrane|nuclear outer membrane	all-trans-retinol 13,14-reductase activity|electron carrier activity			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	30					Vitamin A(DB00162)	TGTGCCCGGATCCTAGAATCA	0.522													5	46					0	0	1	0	0	C	85570391	T	C	85570391	3	2	81	1	0	0	0	0	1	0	0	0	13290	1435	50	3	29	3	RETSAT	2	85570391	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	290058	85570391	157628982	1963	5579											
RETSAT	54884	broad.mit.edu	37	2	85571786	85571786	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:85571786C>T	ENST00000295802.4	-	7	1299	c.1187G>A	c.(1186-1188)gGc>gAc	p.G396D	RETSAT_ENST00000263854.6_Missense_Mutation_p.G396D|RETSAT_ENST00000457495.2_Missense_Mutation_p.G335D|RETSAT_ENST00000475624.2_5'UTR	NM_017750.3	NP_060220.3	Q6NUM9	RETST_HUMAN	retinol saturase (all-trans-retinol 13,14-reductase)	396					retinol metabolic process	endoplasmic reticulum membrane|nuclear outer membrane	all-trans-retinol 13,14-reductase activity|electron carrier activity			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	30					Vitamin A(DB00162)	TTCCTTGGTGCCTCGCAGGCA	0.577													15	35					0	0	1	0	0	T	85571786	C	T	85571786	3	4	81	1	0	0	0	0	1	0	0	0	13290	739	26	2	665	2	RETSAT	2	85571786	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1395	85571786	157627587	1964	5580											
RETSAT	54884	broad.mit.edu	37	2	85573132	85573132	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:85573132T>C	ENST00000295802.4	-	6	1195	c.1083A>G	c.(1081-1083)gaA>gaG	p.E361E	RETSAT_ENST00000263854.6_Silent_p.E361E|RETSAT_ENST00000457495.2_Silent_p.E300E|RETSAT_ENST00000475624.2_5'UTR	NM_017750.3	NP_060220.3	Q6NUM9	RETST_HUMAN	retinol saturase (all-trans-retinol 13,14-reductase)	361					retinol metabolic process	endoplasmic reticulum membrane|nuclear outer membrane	all-trans-retinol 13,14-reductase activity|electron carrier activity			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	30					Vitamin A(DB00162)	GCAGTAGGTGTTCATAGGTGT	0.582													56	80					0	0	1	0	0	C	85573132	T	C	85573132	2	2	81	1	0	0	0	0	0	0	0	1	13290	1722	60	3		3	RETSAT	2	85573132	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	1346	85573132	157626241	1965	5581											
RETSAT	54884	broad.mit.edu	37	2	85573180	85573180	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:85573180G>T	ENST00000295802.4	-	6	1147	c.1035C>A	c.(1033-1035)atC>atA	p.I345I	RETSAT_ENST00000263854.6_Silent_p.I345I|RETSAT_ENST00000457495.2_Silent_p.I284I|RETSAT_ENST00000475624.2_5'UTR	NM_017750.3	NP_060220.3	Q6NUM9	RETST_HUMAN	retinol saturase (all-trans-retinol 13,14-reductase)	345					retinol metabolic process	endoplasmic reticulum membrane|nuclear outer membrane	all-trans-retinol 13,14-reductase activity|electron carrier activity			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	30					Vitamin A(DB00162)	TGGGGCAATAGATGTTCACCA	0.582													50	68					3.07002e-29	4.08884e-29	1	1	0	T	85573180	G	T	85573180	2	4	81	1	0	0	0	0	0	0	0	1	13290	932	33	4		4	RETSAT	2	85573180	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	48	85573180	157626193	1966	5582											
RETSAT	54884	broad.mit.edu	37	2	85577194	85577194	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:85577194C>A	ENST00000295802.4	-	4	880	c.768G>T	c.(766-768)caG>caT	p.Q256H	RETSAT_ENST00000263854.6_Missense_Mutation_p.Q256H|RETSAT_ENST00000457495.2_Missense_Mutation_p.Q195H	NM_017750.3	NP_060220.3	Q6NUM9	RETST_HUMAN	retinol saturase (all-trans-retinol 13,14-reductase)	256					retinol metabolic process	endoplasmic reticulum membrane|nuclear outer membrane	all-trans-retinol 13,14-reductase activity|electron carrier activity			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	30					Vitamin A(DB00162)	TGAGTACTGCCTGGAGCTCAG	0.597													22	40					6.44725e-10	7.84582e-10	1	1	0	A	85577194	C	A	85577194	3	1	81	1	0	0	0	0	1	0	0	0	13290	680	24	4	1096	4	RETSAT	2	85577194	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	4014	85577194	157622179	1967	5583											
ELMOD3	84173	broad.mit.edu	37	2	85617291	85617291	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:85617291C>T	ENST00000315658.7	+	11	1105	c.846C>T	c.(844-846)ccC>ccT	p.P282P	ELMOD3_ENST00000409344.3_Silent_p.P282P|ELMOD3_ENST00000393852.4_Silent_p.P282P|ELMOD3_ENST00000490508.1_3'UTR|ELMOD3_ENST00000409890.2_Silent_p.P282P|ELMOD3_ENST00000409013.3_Silent_p.P282P	NM_032213.4	NP_115589.2	Q96FG2	ELMD3_HUMAN	ELMO/CED-12 domain containing 3	282	ELMO.				phagocytosis	cytoskeleton				endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)	12						AGGTCATCCCCGTGGTGAACA	0.567													4	45					0	0	1	0	0	T	85617291	C	T	85617291	2	4	81	1	0	0	0	0	0	0	0	1	5098	639	23	1		1	ELMOD3	2	85617291	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	40097	85617291	157582082	1968	5584											
ELMOD3	84173	broad.mit.edu	37	2	85617352	85617352	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:85617352C>T	ENST00000315658.7	+	11	1166	c.907C>T	c.(907-909)Cgg>Tgg	p.R303W	ELMOD3_ENST00000409344.3_Missense_Mutation_p.R303W|ELMOD3_ENST00000393852.4_Missense_Mutation_p.R303W|ELMOD3_ENST00000490508.1_3'UTR|ELMOD3_ENST00000409890.2_Missense_Mutation_p.R303W|ELMOD3_ENST00000409013.3_Missense_Mutation_p.R303W	NM_032213.4	NP_115589.2	Q96FG2	ELMD3_HUMAN	ELMO/CED-12 domain containing 3	303	ELMO.				phagocytosis	cytoskeleton				endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)	12						GAGGACACAGCGGAAGACCAT	0.562													4	32					0	0	1	0	0	T	85617352	C	T	85617352	3	4	81	1	0	0	0	0	1	0	0	0	5098	759	27	1	945	1	ELMOD3	2	85617352	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	61	85617352	157582021	1969	5585											
CAPG	822	broad.mit.edu	37	2	85628938	85628938	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:85628938C>A	ENST00000263867.4	-	3	415	c.166G>T	c.(166-168)Gaa>Taa	p.E56*	CAPG_ENST00000409724.1_Nonsense_Mutation_p.E56*|CAPG_ENST00000409921.1_Nonsense_Mutation_p.E56*|CAPG_ENST00000409670.1_Nonsense_Mutation_p.E56*	NM_001256140.1|NM_001747.3	NP_001243069.1|NP_001738.2	P40121	CAPG_HUMAN	capping protein (actin filament), gelsolin-like	56					barbed-end actin filament capping|protein complex assembly	F-actin capping protein complex|melanosome|nuclear membrane|nucleolus	actin binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(6)	11						GAAACCTCTTCTGGGCCATTG	0.607													35	43					6.90743e-12	8.5981e-12	1	1	0	A	85628938	C	A	85628938	4	1	81	1	0	0	0	0	0	1	0	0	2639	922	32	4	912	4	CAPG	2	85628938	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	11586	85628938	157570435	1970	5586											
MAT2A	4144	broad.mit.edu	37	2	85769031	85769031	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:85769031C>T	ENST00000306434.3	+	5	608	c.485C>T	c.(484-486)gCc>gTc	p.A162V	MAT2A_ENST00000490878.1_3'UTR|MAT2A_ENST00000409017.1_Missense_Mutation_p.A99V	NM_005911.5	NP_005902.1	P31153	METK2_HUMAN	methionine adenosyltransferase II, alpha	162					methylation|xenobiotic metabolic process	cytosol	ATP binding|metal ion binding|methionine adenosyltransferase activity			breast(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	9					L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)	AAGCTAAATGCCAAACTGGCA	0.418													40	58					0	0	1	0	0	T	85769031	C	T	85769031	3	4	81	1	0	0	0	0	1	0	0	0	9380	739	26	2	503	2	MAT2A	2	85769031	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	140093	85769031	157430342	1971	5587											
VAMP8	8673	broad.mit.edu	37	2	85808760	85808760	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:85808760A>C	ENST00000263864.5	+	3	380	c.224A>C	c.(223-225)aAg>aCg	p.K75T	VAMP8_ENST00000409760.1_3'UTR|VAMP8_ENST00000432071.1_Missense_Mutation_p.K49T	NM_003761.4	NP_003752.2	Q9BV40	VAMP8_HUMAN	vesicle-associated membrane protein 8	75					post-Golgi vesicle-mediated transport	early endosome|integral to membrane|membrane fraction|plasma membrane|secretory granule membrane		p.K75M(1)		breast(1)|endometrium(2)|large_intestine(1)|stomach(2)	6						AAGAACGTGAAGATGATTGTC	0.483													12	265					0	0	1	0	0	C	85808760	A	C	85808760	3	2	81	1	0	0	0	0	1	0	0	0	17178	72	3	5	234	5	VAMP8	2	85808760	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	39729	85808760	157390613	1972	5588											
USP39	10713	broad.mit.edu	37	2	85848692	85848692	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:85848692G>A	ENST00000323701.6	+	3	433	c.423G>A	c.(421-423)aaG>aaA	p.K141K	USP39_ENST00000450066.2_Intron|USP39_ENST00000409470.1_Silent_p.K141K|USP39_ENST00000409025.1_Silent_p.K141K|USP39_ENST00000459775.1_3'UTR|USP39_ENST00000409766.3_Silent_p.K141K	NM_006590.3	NP_006581.2	Q53GS9	SNUT2_HUMAN	ubiquitin specific peptidase 39	141					spliceosome assembly|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin thiolesterase activity|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	19						TGTGTGGCAAGTACTTTCAAG	0.388													30	50					0	0	1	0	0	A	85848692	G	A	85848692	2	1	81	1	0	0	0	0	0	0	0	1	17130	1020	36	2		2	USP39	2	85848692	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	39932	85848692	157350681	1973	5589											
USP39	10713	broad.mit.edu	37	2	85868167	85868167	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:85868167C>A	ENST00000323701.6	+	10	1363	c.1353C>A	c.(1351-1353)atC>atA	p.I451I	USP39_ENST00000450066.2_Silent_p.I348I|USP39_ENST00000409470.1_Silent_p.I451I|USP39_ENST00000409025.1_Silent_p.I451I|USP39_ENST00000459775.1_3'UTR|USP39_ENST00000409766.3_Silent_p.I451I	NM_006590.3	NP_006581.2	Q53GS9	SNUT2_HUMAN	ubiquitin specific peptidase 39	451					spliceosome assembly|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin thiolesterase activity|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	19						CATATCTAATCTTTTGTATCA	0.353													25	37					3.1745e-13	4.00013e-13	1	1	0	A	85868167	C	A	85868167	2	1	81	1	0	0	0	0	0	0	0	1	17130	903	32	4		4	USP39	2	85868167	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	19475	85868167	157331206	1974	5590											
POLR1A	25885	broad.mit.edu	37	2	86254575	86254575	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:86254575G>T	ENST00000263857.6	-	34	5512	c.5134C>A	c.(5134-5136)Ctg>Atg	p.L1712M	POLR1A_ENST00000409681.1_Missense_Mutation_p.L1651M			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	1712					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						AGCTCGAACAGGCCTGTCCCG	0.612													32	58					3.76114e-14	4.76686e-14	1	1	0	T	86254575	G	T	86254575	3	4	81	1	0	0	0	0	1	0	0	0	12257	991	35	4	32	4	POLR1A	2	86254575	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	386408	86254575	156944798	1975	5591											
POLR1A	25885	broad.mit.edu	37	2	86258711	86258711	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:86258711G>A	ENST00000263857.6	-	30	4698	c.4320C>T	c.(4318-4320)aaC>aaT	p.N1440N	POLR1A_ENST00000409681.1_Silent_p.N1440N			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	1440					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						cttcatcgtcgttctcctcgc	0.557													25	31					0	0	1	0	0	A	86258711	G	A	86258711	2	1	81	1	0	0	0	0	0	0	0	1	12257	1136	40	1		1	POLR1A	2	86258711	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	4136	86258711	156940662	1976	5592											
POLR1A	25885	broad.mit.edu	37	2	86272844	86272844	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:86272844G>T	ENST00000263857.6	-	20	3160	c.2782C>A	c.(2782-2784)Ctg>Atg	p.L928M	POLR1A_ENST00000409681.1_Missense_Mutation_p.L928M			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	928					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						GACGCCATCAGCGGGGGTCTC	0.557													32	32					2.85442e-18	3.69892e-18	1	1	0	T	86272844	G	T	86272844	3	4	81	1	0	0	0	0	1	0	0	0	12257	962	34	4	2440	4	POLR1A	2	86272844	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	14133	86272844	156926529	1977	5593											
POLR1A	25885	broad.mit.edu	37	2	86276317	86276317	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:86276317C>T	ENST00000263857.6	-	17	2819	c.2441G>A	c.(2440-2442)cGt>cAt	p.R814H	POLR1A_ENST00000409681.1_Missense_Mutation_p.R814H			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	814					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						TTCAATGATACGTTGCCTCTT	0.547													43	81					0	0	1	0	0	T	86276317	C	T	86276317	3	4	81	1	0	0	0	0	1	0	0	0	12257	536	19	1	2793	1	POLR1A	2	86276317	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3473	86276317	156923056	1978	5594											
POLR1A	25885	broad.mit.edu	37	2	86297353	86297353	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:86297353G>A	ENST00000263857.6	-	13	2032	c.1654C>T	c.(1654-1656)Cga>Tga	p.R552*	POLR1A_ENST00000409681.1_Nonsense_Mutation_p.R552*			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	552					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						GTGGGCTGTCGGTTCAGTAGC	0.582													13	21					0	0	1	0	0	A	86297353	G	A	86297353	4	1	81	1	0	0	0	0	0	1	0	0	12257	1124	39	1	3596	1	POLR1A	2	86297353	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	21036	86297353	156902020	1979	5595											
POLR1A	25885	broad.mit.edu	37	2	86315723	86315723	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:86315723G>A	ENST00000263857.6	-	6	1074	c.696C>T	c.(694-696)caC>caT	p.H232H	POLR1A_ENST00000409681.1_Silent_p.H232H			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	232					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						CAGCTGTCCTGTGCACCATGG	0.567													7	49					0	0	1	0	0	A	86315723	G	A	86315723	2	1	81	1	0	0	0	0	0	0	0	1	12257	1368	48	2		2	POLR1A	2	86315723	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	18370	86315723	156883650	1980	5596											
PTCD3	55037	broad.mit.edu	37	2	86364603	86364603	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:86364603G>T	ENST00000254630.7	+	24	2057	c.1991G>T	c.(1990-1992)aGt>aTt	p.S664I		NM_017952.5	NP_060422.4	Q96EY7	PTCD3_HUMAN	pentatricopeptide repeat domain 3	664						mitochondrion	protein binding			NS(1)|breast(2)|endometrium(3)|kidney(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)	22						GAAGCCCTAAGTAATCTAACT	0.478													11	19					6.42651e-13	8.07044e-13	1	1	0	T	86364603	G	T	86364603	3	4	81	1	0	0	0	0	1	0	0	0	12778	1029	36	4	2085	4	PTCD3	2	86364603	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	48880	86364603	156834770	1981	5597											
IMMT	10989	broad.mit.edu	37	2	86378642	86378642	+	Splice_Site	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:86378642A>G	ENST00000410111.3	-	12	1566	c.1179T>C	c.(1177-1179)gcT>gcC	p.A393A	IMMT_ENST00000442664.2_Splice_Site_p.A392A|IMMT_ENST00000409051.2_Splice_Site_p.A346A|IMMT_ENST00000449247.2_Splice_Site_p.A382A|IMMT_ENST00000254636.5_Splice_Site_p.A294A	NM_001100169.1|NM_001100170.1|NM_006839.2	NP_001093639.1|NP_001093640.1|NP_006830.2	Q16891	IMMT_HUMAN	inner membrane protein, mitochondrial	393				SVSDLA -> T (in Ref. 9; AAF73126).		integral to mitochondrial inner membrane	protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						AGAGCTTGTCAGCTAAGCAAA	0.388													4	25					0	0	1	0	0	G	86378642	A	G	86378642	5	3	81	1	0	0	0	0	0	0	1	0	7762	202	7	3	1113	3	IMMT	2	86378642	Splice_Site	SNP	A	TCGA-DU-6392-01A-11D-1705-08	14039	86378642	156820731	1982	5598											
KDM3A	55818	broad.mit.edu	37	2	86701913	86701913	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:86701913A>G	ENST00000409556.1	+	13	2104	c.1739A>G	c.(1738-1740)aAa>aGa	p.K580R	KDM3A_ENST00000485171.1_3'UTR|KDM3A_ENST00000542128.1_Missense_Mutation_p.K528R|KDM3A_ENST00000312912.5_Missense_Mutation_p.K580R|KDM3A_ENST00000409064.1_Missense_Mutation_p.K580R			Q9Y4C1	KDM3A_HUMAN	lysine (K)-specific demethylase 3A	580					androgen receptor signaling pathway|cell differentiation|formaldehyde biosynthetic process|histone H3-K9 demethylation|hormone-mediated signaling pathway|positive regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleus	androgen receptor binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(3)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(3)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	47						CAATTCAACAAACATGGTGTG	0.408													38	60					0	0	1	0	0	G	86701913	A	G	86701913	3	3	81	1	0	0	0	0	1	0	0	0	8170	14	1	3	1781	3	KDM3A	2	86701913	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	323271	86701913	156497460	1983	5599											
KDM3A	55818	broad.mit.edu	37	2	86705788	86705788	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:86705788C>T	ENST00000409556.1	+	16	2611	c.2246C>T	c.(2245-2247)gCa>gTa	p.A749V	KDM3A_ENST00000542128.1_Missense_Mutation_p.A697V|KDM3A_ENST00000312912.5_Missense_Mutation_p.A749V|KDM3A_ENST00000409064.1_Missense_Mutation_p.A749V			Q9Y4C1	KDM3A_HUMAN	lysine (K)-specific demethylase 3A	749					androgen receptor signaling pathway|cell differentiation|formaldehyde biosynthetic process|histone H3-K9 demethylation|hormone-mediated signaling pathway|positive regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleus	androgen receptor binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(3)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(3)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	47						GGAATAAAGGCAAACTGCCCT	0.393													17	57					0	0	1	0	0	T	86705788	C	T	86705788	3	4	81	1	0	0	0	0	1	0	0	0	8170	710	25	2	2300	2	KDM3A	2	86705788	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3875	86705788	156493585	1984	5600											
KDM3A	55818	broad.mit.edu	37	2	86719198	86719198	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:86719198G>T	ENST00000409556.1	+	27	4287	c.3922G>T	c.(3922-3924)Gtt>Ttt	p.V1308F	KDM3A_ENST00000542128.1_Missense_Mutation_p.V1256F|KDM3A_ENST00000312912.5_Missense_Mutation_p.V1308F|KDM3A_ENST00000409064.1_Missense_Mutation_p.V1308F			Q9Y4C1	KDM3A_HUMAN	lysine (K)-specific demethylase 3A	1308					androgen receptor signaling pathway|cell differentiation|formaldehyde biosynthetic process|histone H3-K9 demethylation|hormone-mediated signaling pathway|positive regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleus	androgen receptor binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(3)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(3)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	47						GAAAGATGCAGTTGCTATGCT	0.378													9	20					5.4927e-09	6.5834e-09	1	1	0	T	86719198	G	T	86719198	3	4	81	1	0	0	0	0	1	0	0	0	8170	1029	36	4	4020	4	KDM3A	2	86719198	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	13410	86719198	156480175	1985	5601											
RNF103	7844	broad.mit.edu	37	2	86831491	86831491	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:86831491G>A	ENST00000237455.4	-	4	2501	c.1533C>T	c.(1531-1533)aaC>aaT	p.N511N	AC015971.2_ENST00000597638.1_RNA|AC015971.2_ENST00000424788.1_RNA|CHMP3_ENST00000439940.2_Intron|AC015971.2_ENST00000426549.1_RNA|AC015971.2_ENST00000439077.1_RNA|RNF103-CHMP3_ENST00000604011.1_Intron	NM_001198951.1|NM_005667.3	NP_001185880.1|NP_005658.1	O00237	RN103_HUMAN	ring finger protein 103	511					central nervous system development|ER-associated protein catabolic process	endoplasmic reticulum membrane|integral to membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(7)|skin(2)	25						ACATTGGTAAGTTTTTAATAT	0.433													75	103					0	0	1	0	0	A	86831491	G	A	86831491	2	1	81	1	0	0	0	0	0	0	0	1	13475	1020	36	2		2	RNF103	2	86831491	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	112293	86831491	156367882	1986	5602											
RMND5A	64795	broad.mit.edu	37	2	86979116	86979116	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:86979116G>A	ENST00000283632.4	+	3	878	c.383G>A	c.(382-384)cGa>cAa	p.R128Q		NM_022780.3	NP_073617.1	Q9H871	RMD5A_HUMAN	required for meiotic nuclear division 5 homolog A (S. cerevisiae)	128	LisH.									kidney(1)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	17						CACTTCTTTCGACAAGGAATG	0.473													21	17					0	0	1	0	0	A	86979116	G	A	86979116	3	1	81	1	0	0	0	0	1	0	0	0	13449	1058	37	1	393	1	RMND5A	2	86979116	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	147625	86979116	156220257	1987	5603											
RMND5A	64795	broad.mit.edu	37	2	86997171	86997171	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:86997171C>T	ENST00000283632.4	+	7	1375	c.880C>T	c.(880-882)Cca>Tca	p.P294S	RMND5A_ENST00000472843.1_3'UTR	NM_022780.3	NP_073617.1	Q9H871	RMD5A_HUMAN	required for meiotic nuclear division 5 homolog A (S. cerevisiae)	294										kidney(1)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	17						TGTGGCGCTGCCAGCTTTAAT	0.488													14	218					0	0	1	0	0	T	86997171	C	T	86997171	3	4	81	1	0	0	0	0	1	0	0	0	13449	739	26	2	906	2	RMND5A	2	86997171	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	18055	86997171	156202202	1988	5604											
SMYD1	150572	broad.mit.edu	37	2	88387390	88387390	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:88387390G>A	ENST00000419482.2	+	3	409	c.324G>A	c.(322-324)gcG>gcA	p.A108A	SMYD1_ENST00000438570.1_Intron|SMYD1_ENST00000444564.2_Silent_p.A108A|SMYD1_ENST00000468008.1_3'UTR	NM_198274.3	NP_938015.1	Q8NB12	SMYD1_HUMAN	SET and MYND domain containing 1	108					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	41						GGCTGGCGGCGCGCATCATGT	0.607													6	8					0	0	1	0	0	A	88387390	G	A	88387390	2	1	81	1	0	0	0	0	0	0	0	1	14875	1074	38	1		1	SMYD1	2	88387390	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1390219	88387390	154811983	1989	5605											
EIF2AK3	9451	broad.mit.edu	37	2	88874582	88874582	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:88874582C>A	ENST00000303236.3	-	13	2720	c.2419G>T	c.(2419-2421)Gta>Tta	p.V807L	EIF2AK3_ENST00000470706.1_5'UTR|AC104134.2_ENST00000413234.1_RNA|EIF2AK3_ENST00000419748.1_Missense_Mutation_p.V656L	NM_004836.5	NP_004827.4	Q9NZJ5	E2AK3_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 3	807	Protein kinase.				activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|ER overload response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding			ovary(3)	3						TCTTCAAATACTATTGAAGAG	0.413													58	115					8.72158e-25	1.15245e-24	1	1	0	A	88874582	C	A	88874582	3	1	81	1	0	0	0	0	1	0	0	0	5024	565	20	4	951	4	EIF2AK3	2	88874582	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	487192	88874582	154324791	1990	5606											
MRPS5	64969	broad.mit.edu	37	2	95753150	95753150	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:95753150C>A	ENST00000272418.2	-	12	1453	c.1245G>T	c.(1243-1245)caG>caT	p.Q415H		NM_031902.3	NP_114108.1	P82675	RT05_HUMAN	mitochondrial ribosomal protein S5	415					translation	mitochondrion|ribosome	protein binding|RNA binding|structural constituent of ribosome			central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20						GCTTCATTCCCTGTGCAGTCT	0.567													7	48					0.00198382	0.00209725	1	1	0	A	95753150	C	A	95753150	3	1	81	1	0	0	0	0	1	0	0	0	9895	680	24	4	51	4	MRPS5	2	95753150	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	6878568	95753150	147446223	1991	5607											
MRPS5	64969	broad.mit.edu	37	2	95756194	95756194	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:95756194C>A	ENST00000272418.2	-	11	1213	c.1005G>T	c.(1003-1005)aaG>aaT	p.K335N		NM_031902.3	NP_114108.1	P82675	RT05_HUMAN	mitochondrial ribosomal protein S5	335					translation	mitochondrion|ribosome	protein binding|RNA binding|structural constituent of ribosome			central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20						ACCCAGAGACCTTGGCATACA	0.542													8	127					0.00448238	0.00470627	1	1	0	A	95756194	C	A	95756194	3	1	81	1	0	0	0	0	1	0	0	0	9895	680	24	4	295	4	MRPS5	2	95756194	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3044	95756194	147443179	1992	5608											
MRPS5	64969	broad.mit.edu	37	2	95775727	95775728	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:95775727_95775728insT	ENST00000272418.2	-	4	544_545	c.336_337insA	c.(334-339)aaaggafs	p.G113fs		NM_031902.3	NP_114108.1	P82675	RT05_HUMAN	mitochondrial ribosomal protein S5	113					translation	mitochondrion|ribosome	protein binding|RNA binding|structural constituent of ribosome			central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20						TTGCCTCTTCCTTTTTTTGCTC	0.381													48	92	---	---	---	---						T	95775728	-	T	95775727	7	5	81	1	0	1	1	0	0	0	0	0	9895	690	24	0	991	0	MRPS5	2	95775727	Frame_Shift_Ins	INS	-	TCGA-DU-6392-01A-11D-1705-08	19533	95775727	147423646	1993	5609											
ZNF2	7549	broad.mit.edu	37	2	95843352	95843352	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:95843352T>C	ENST00000398107.2	+	2	554	c.32T>C	c.(31-33)tTg>tCg	p.L11S	ZNF2_ENST00000295210.6_Missense_Mutation_p.L53S|ZNF2_ENST00000425369.1_Missense_Mutation_p.L11S|ZNF2_ENST00000453539.2_Missense_Mutation_p.L53S|ZNF2_ENST00000340539.5_Missense_Mutation_p.L53S	NM_001017396.1	NP_001017396	Q9BSG1	ZNF2_HUMAN	zinc finger protein 2	53				MAAVSPTTRCQ -> RGAVFPGPEHSVPE (in Ref. 3; CAB52138).	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	12		Ovarian(717;0.00768)		READ - Rectum adenocarcinoma(193;0.0222)		ATTGTGTCATTGGGTAAGGGG	0.517													36	43					0	0	1	0	0	C	95843352	T	C	95843352	3	2	81	1	0	0	0	0	1	0	0	0	17818	1821	63	3	164	3	ZNF2	2	95843352	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	67625	95843352	147356021	1994	5610											
PROM2	150696	broad.mit.edu	37	2	95940258	95940258	+	Translation_Start_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:95940258G>A	ENST00000317620.9	+	0	58				PROM2_ENST00000542147.1_De_novo_Start_InFrame|PROM2_ENST00000463580.1_3'UTR|PROM2_ENST00000403131.2_De_novo_Start_InFrame|PROM2_ENST00000317668.4_De_novo_Start_InFrame	NM_001165978.1	NP_001159450.1	Q8N271	PROM2_HUMAN	prominin 2							apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane				breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	32						AGGGACAGAGGCTGGAGAAGG	0.607													11	14					0	0	1	0	0	A	95940258	G	A	95940258	1	1	81	1	0	0	0	0	0	0	0	0	12608	1218	42	2		2	PROM2	2	95940258	Translation_Start_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	96906	95940258	147259115	1995	5611											
PROM2	150696	broad.mit.edu	37	2	95941712	95941712	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:95941712C>A	ENST00000317620.9	+	3	462	c.329C>A	c.(328-330)gCt>gAt	p.A110D	PROM2_ENST00000542147.1_Missense_Mutation_p.A110D|PROM2_ENST00000463580.1_Intron|PROM2_ENST00000403131.2_Missense_Mutation_p.A110D|PROM2_ENST00000317668.4_Missense_Mutation_p.A110D	NM_001165978.1	NP_001159450.1	Q8N271	PROM2_HUMAN	prominin 2	110						apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane				breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	32						GTGGTATGCGCTGTGATCGCG	0.692													3	9					0.0293803	0.0300537	1	1	0	A	95941712	C	A	95941712	3	1	81	1	0	0	0	0	1	0	0	0	12608	797	28	4	339	4	PROM2	2	95941712	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1454	95941712	147257661	1996	5612											
PROM2	150696	broad.mit.edu	37	2	95944853	95944853	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:95944853G>A	ENST00000317620.9	+	10	1368	c.1235G>A	c.(1234-1236)cGc>cAc	p.R412H	PROM2_ENST00000542147.1_Missense_Mutation_p.R412H|PROM2_ENST00000403131.2_Missense_Mutation_p.R412H|PROM2_ENST00000317668.4_Missense_Mutation_p.R412H	NM_001165978.1	NP_001159450.1	Q8N271	PROM2_HUMAN	prominin 2	412						apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane				breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	32						GAGAGCAGCCGCCCCTACCTG	0.682													8	10					0	0	1	0	0	A	95944853	G	A	95944853	3	1	81	1	0	0	0	0	1	0	0	0	12608	1087	38	1	1273	1	PROM2	2	95944853	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	3141	95944853	147254520	1997	5613											
PROM2	150696	broad.mit.edu	37	2	95947042	95947042	+	Missense_Mutation	SNP	G	G	A	rs142421342	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:95947042G>A	ENST00000317620.9	+	12	1613	c.1480G>A	c.(1480-1482)Gcc>Acc	p.A494T	PROM2_ENST00000542147.1_Missense_Mutation_p.A494T|PROM2_ENST00000403131.2_Missense_Mutation_p.A494T|PROM2_ENST00000317668.4_Missense_Mutation_p.A494T	NM_001165978.1	NP_001159450.1	Q8N271	PROM2_HUMAN	prominin 2	494						apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane				breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	32						CCTGGTGTTCGCCACCTTCCT	0.642													34	57					0	0	1	0	0	A	95947042	G	A	95947042	3	1	81	1	0	0	0	0	1	0	0	0	12608	1087	38	1	1526	1	PROM2	2	95947042	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2189	95947042	147252331	1998	5614											
PROM2	150696	broad.mit.edu	37	2	95950734	95950734	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:95950734G>A	ENST00000317620.9	+	15	1879	c.1746G>A	c.(1744-1746)cgG>cgA	p.R582R	PROM2_ENST00000542147.1_Intron|PROM2_ENST00000403131.2_Silent_p.R582R|PROM2_ENST00000317668.4_Silent_p.R582R	NM_001165978.1	NP_001159450.1	Q8N271	PROM2_HUMAN	prominin 2	582						apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane				breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	32						ACAAGCTACGGCAGGAGTTGC	0.632													4	8					0	0	1	0	0	A	95950734	G	A	95950734	2	1	81	1	0	0	0	0	0	0	0	1	12608	1190	42	2		2	PROM2	2	95950734	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	3692	95950734	147248639	1999	5615											
PROM2	150696	broad.mit.edu	37	2	95953982	95953982	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:95953982C>T	ENST00000317620.9	+	21	2401	c.2268C>T	c.(2266-2268)tgC>tgT	p.C756C	PROM2_ENST00000542147.1_Silent_p.C707C|PROM2_ENST00000403131.2_Silent_p.C756C|PROM2_ENST00000317668.4_Silent_p.C756C	NM_001165978.1	NP_001159450.1	Q8N271	PROM2_HUMAN	prominin 2	756						apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane				breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	32						TTGCCACCTGCCAGCCCCTCT	0.607													14	41					0	0	1	0	0	T	95953982	C	T	95953982	2	4	81	1	0	0	0	0	0	0	0	1	12608	747	26	2		2	PROM2	2	95953982	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3248	95953982	147245391	2000	5616											
FAHD2A	51011	broad.mit.edu	37	2	96078450	96078450	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:96078450G>A	ENST00000233379.4	+	7	973	c.820G>A	c.(820-822)Gtc>Atc	p.V274I	FAHD2A_ENST00000447036.1_Missense_Mutation_p.V274I	NM_016044.2	NP_057128.2	Q96GK7	FAH2A_HUMAN	fumarylacetoacetate hydrolase domain containing 2A	274							hydrolase activity|metal ion binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(3)|ovary(1)	8						CCCAGGGGATGTCATCCTAAC	0.557													9	14					0	0	1	0	0	A	96078450	G	A	96078450	3	1	81	1	0	0	0	0	1	0	0	0	5404	1377	48	2	842	2	FAHD2A	2	96078450	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	124468	96078450	147120923	2001	5617											
ASTL	431705	broad.mit.edu	37	2	96795662	96795662	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:96795662C>T	ENST00000342380.2	-	8	774	c.775G>A	c.(775-777)Gtc>Atc	p.V259I		NM_001002036.3	NP_001002036.3	Q6HA08	ASTL_HUMAN	astacin-like metallo-endopeptidase (M12 family)	259					proteolysis		metalloendopeptidase activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(2)	30						CCGATGTGGACACTGGGGGCC	0.667													16	44					0	0	1	0	0	T	96795662	C	T	96795662	3	4	81	1	0	0	0	0	1	0	0	0	1062	478	17	2	527	2	ASTL	2	96795662	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	717212	96795662	146403711	2002	5618											
ASTL	431705	broad.mit.edu	37	2	96798360	96798360	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:96798360G>A	ENST00000342380.2	-	6	555	c.556C>T	c.(556-558)Cat>Tat	p.H186Y		NM_001002036.3	NP_001002036.3	Q6HA08	ASTL_HUMAN	astacin-like metallo-endopeptidase (M12 family)	186					proteolysis		metalloendopeptidase activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(2)	30						CCCAGCACATGCATGAGCTCA	0.642													13	99					0	0	1	0	0	A	96798360	G	A	96798360	3	1	81	1	0	0	0	0	1	0	0	0	1062	1319	46	2	754	2	ASTL	2	96798360	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2698	96798360	146401013	2003	5619											
STARD7	56910	broad.mit.edu	37	2	96858172	96858172	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:96858172C>A	ENST00000337288.5	-	6	1161	c.778G>T	c.(778-780)Gaa>Taa	p.E260*	STARD7_ENST00000462501.1_5'UTR	NM_020151.3	NP_064536.2	Q9NQZ5	STAR7_HUMAN	StAR-related lipid transfer (START) domain containing 7	260	START.					mitochondrion				endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|stomach(2)	14						CTGACGAATTCTGGAGACTCT	0.428													9	133					1.08611e-07	1.27405e-07	1	1	0	A	96858172	C	A	96858172	4	1	81	1	0	0	0	0	0	1	0	0	15318	922	32	4	346	4	STARD7	2	96858172	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	59812	96858172	146341201	2004	5620											
SNRNP200	23020	broad.mit.edu	37	2	96953207	96953207	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:96953207G>A	ENST00000323853.5	-	26	3531	c.3454C>T	c.(3454-3456)Cgt>Tgt	p.R1152C	SNRNP200_ENST00000349783.5_Intron	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	1152	SEC63 1.					catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						TCGTACAGACGCTCAAAGGGG	0.512													15	88					0	0	1	0	0	A	96953207	G	A	96953207	3	1	81	1	0	0	0	0	1	0	0	0	14906	1087	38	1	3036	1	SNRNP200	2	96953207	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	95035	96953207	146246166	2005	5621											
SNRNP200	23020	broad.mit.edu	37	2	96956538	96956538	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:96956538C>A	ENST00000323853.5	-	19	2514	c.2437G>T	c.(2437-2439)Gca>Tca	p.A813S	SNRNP200_ENST00000349783.5_Intron	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	813	Helicase C-terminal 1.					catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						GCTAGAGTTGCTGTGGAAACT	0.507													9	63					0.00621372	0.00649472	1	1	0	A	96956538	C	A	96956538	3	1	81	1	0	0	0	0	1	0	0	0	14906	797	28	4	4081	4	SNRNP200	2	96956538	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3331	96956538	146242835	2006	5622											
NCAPH	23397	broad.mit.edu	37	2	97009879	97009879	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:97009879C>A	ENST00000455200.1	+	6	894	c.599C>A	c.(598-600)gCt>gAt	p.A200D	NCAPH_ENST00000427946.1_Missense_Mutation_p.A75D|NCAPH_ENST00000240423.4_Missense_Mutation_p.A211D			Q15003	CND2_HUMAN	non-SMC condensin I complex, subunit H	211					cell division|mitotic chromosome condensation	condensin complex|cytoplasm|microtubule cytoskeleton|nucleus				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(717;0.0221)				ACCAAAAAGGCTGTAAAGCCA	0.418													10	31					0.000442599	0.000477972	1	1	0	A	97009879	C	A	97009879	3	1	81	1	0	0	0	0	1	0	0	0	10256	797	28	4	654	4	NCAPH	2	97009879	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	53341	97009879	146189494	2007	5623											
ARID5A	10865	broad.mit.edu	37	2	97217973	97217973	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:97217973G>A	ENST00000454558.2	+	7	2681	c.1504G>A	c.(1504-1506)Gcc>Acc	p.A502T	ARID5A_ENST00000357485.3_Missense_Mutation_p.A570T			Q03989	ARI5A_HUMAN	AT rich interactive domain 5A (MRF1-like)	570					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|skin(1)|urinary_tract(2)	14						ACTTTGCCCGGCCTCATCTGC	0.637													24	37					0	0	1	0	0	A	97217973	G	A	97217973	3	1	81	1	0	0	0	0	1	0	0	0	918	1203	42	2	1734	2	ARID5A	2	97217973	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	208094	97217973	145981400	2008	5624											
FER1L5	90342	broad.mit.edu	37	2	97369334	97369334	+	RNA	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:97369334G>A	ENST00000457909.1	+	0	5269							A0AVI2	FR1L5_HUMAN	fer-1-like 5 (C. elegans)							integral to membrane		p.S1958S(1)		NS(1)|autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(9)|large_intestine(9)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	38						GAGGCCAGTCGGAACCCAACC	0.567													6	27					0	0	1	0	0	A	97369334	G	A	97369334	1	1	81	0	1	0	0	0	0	0	0	0	5847	1103	39	1		1	FER1L5	2	97369334	RNA	SNP	G	TCGA-DU-6392-01A-11D-1705-08	151361	97369334	145830039	2009	5625											
CNNM4	26504	broad.mit.edu	37	2	97427600	97427600	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:97427600G>T	ENST00000377075.2	+	1	962	c.864G>T	c.(862-864)caG>caT	p.Q288H		NM_020184.3	NP_064569.3	Q6P4Q7	CNNM4_HUMAN	cyclin M4	288	DUF21.				biomineral tissue development|ion transport|response to stimulus|visual perception	integral to membrane|plasma membrane				breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	20						TCCTACCTCAGGCCCTGTGCT	0.557													8	82					5.4927e-09	6.5834e-09	1	1	0	T	97427600	G	T	97427600	3	4	81	1	0	0	0	0	1	0	0	0	3638	991	35	4	866	4	CNNM4	2	97427600	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	58266	97427600	145771773	2010	5626											
CNNM4	26504	broad.mit.edu	37	2	97474383	97474383	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:97474383C>A	ENST00000377075.2	+	6	2132	c.2034C>A	c.(2032-2034)acC>acA	p.T678T	CNNM4_ENST00000496186.1_3'UTR|CNNM4_ENST00000540067.1_Silent_p.T165T	NM_020184.3	NP_064569.3	Q6P4Q7	CNNM4_HUMAN	cyclin M4	678					biomineral tissue development|ion transport|response to stimulus|visual perception	integral to membrane|plasma membrane				breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	20						CTGCAGCAACCTTGGCAGGCA	0.607													9	31					2.17888e-05	2.43576e-05	1	1	0	A	97474383	C	A	97474383	2	1	81	1	0	0	0	0	0	0	0	1	3638	668	24	4		4	CNNM4	2	97474383	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	46783	97474383	145724990	2011	5627											
CNNM3	26505	broad.mit.edu	37	2	97494834	97494834	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:97494834G>T	ENST00000305510.3	+	7	2050	c.2022G>T	c.(2020-2022)caG>caT	p.Q674H	ANKRD23_ENST00000476975.1_Intron|CNNM3_ENST00000480035.1_3'UTR|CNNM3_ENST00000377060.3_Missense_Mutation_p.Q626H	NM_017623.4	NP_060093.3	Q8NE01	CNNM3_HUMAN	cyclin M3	674					ion transport	integral to membrane|plasma membrane	protein binding			NS(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(2)|skin(1)|urinary_tract(2)	13						CAGGCAGCCAGACCAGGCTCC	0.597													4	37					0.00024832	0.000269806	1	1	0	T	97494834	G	T	97494834	3	4	81	1	0	0	0	0	1	0	0	0	3637	933	33	4	2048	4	CNNM3	2	97494834	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	20451	97494834	145704539	2012	5628											
CNNM3	26505	broad.mit.edu	37	2	97494867	97494867	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:97494867G>A	ENST00000305510.3	+	7	2083	c.2055G>A	c.(2053-2055)gcG>gcA	p.A685A	ANKRD23_ENST00000476975.1_Intron|CNNM3_ENST00000480035.1_3'UTR|CNNM3_ENST00000377060.3_Silent_p.A637A	NM_017623.4	NP_060093.3	Q8NE01	CNNM3_HUMAN	cyclin M3	685					ion transport	integral to membrane|plasma membrane	protein binding			NS(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(2)|skin(1)|urinary_tract(2)	13						CCACCACAGCGGCAGGTGAGT	0.622													4	30					0	0	1	0	0	A	97494867	G	A	97494867	2	1	81	1	0	0	0	0	0	0	0	1	3637	1103	39	1		1	CNNM3	2	97494867	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	33	97494867	145704506	2013	5629											
ZAP70	7535	broad.mit.edu	37	2	98351726	98351726	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:98351726G>A	ENST00000264972.5	+	10	1311	c.1096G>A	c.(1096-1098)Gtg>Atg	p.V366M	ZAP70_ENST00000442208.1_Missense_Mutation_p.V240M|ZAP70_ENST00000463643.1_3'UTR|ZAP70_ENST00000451498.2_Missense_Mutation_p.V59M	NM_001079.3	NP_001070.2	P43403	ZAP70_HUMAN	zeta-chain (TCR) associated protein kinase 70kDa	366	Protein kinase.				immune response|intracellular protein kinase cascade|positive thymic T cell selection|T cell receptor signaling pathway	cytosol|T cell receptor complex	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	29						GCAGATCGACGTGGCCATCAA	0.662													29	41					0	0	1	0	0	A	98351726	G	A	98351726	3	1	81	1	0	0	0	0	1	0	0	0	17574	1145	40	1	1126	1	ZAP70	2	98351726	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	856859	98351726	144847647	2014	5630											
ZAP70	7535	broad.mit.edu	37	2	98354296	98354296	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:98354296G>T	ENST00000264972.5	+	12	1774	c.1559G>T	c.(1558-1560)aGc>aTc	p.S520I	ZAP70_ENST00000442208.1_Missense_Mutation_p.S394I|ZAP70_ENST00000463643.1_3'UTR|ZAP70_ENST00000451498.2_Missense_Mutation_p.S213I	NM_001079.3	NP_001070.2	P43403	ZAP70_HUMAN	zeta-chain (TCR) associated protein kinase 70kDa	520	Protein kinase.				immune response|intracellular protein kinase cascade|positive thymic T cell selection|T cell receptor signaling pathway	cytosol|T cell receptor complex	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	29						TCCAGCCGCAGCGATGTCTGG	0.652													10	145					0.000978159	0.00104673	1	1	0	T	98354296	G	T	98354296	3	4	81	1	0	0	0	0	1	0	0	0	17574	971	34	4	1597	4	ZAP70	2	98354296	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2570	98354296	144845077	2015	5631											
TMEM131	23505	broad.mit.edu	37	2	98375414	98375414	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:98375414G>A	ENST00000186436.5	-	40	5537	c.5309C>T	c.(5308-5310)gCg>gTg	p.A1770V		NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131	1770	Ser-rich.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						GGGATCTGTCGCTGGCGACTC	0.592													15	12					0	0	1	0	0	A	98375414	G	A	98375414	3	1	81	1	0	0	0	0	1	0	0	0	16104	1087	38	1	350	1	TMEM131	2	98375414	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	21118	98375414	144823959	2016	5632											
TMEM131	23505	broad.mit.edu	37	2	98375500	98375500	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:98375500G>A	ENST00000186436.5	-	40	5451	c.5223C>T	c.(5221-5223)ctC>ctT	p.L1741L		NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131	1741	Ser-rich.					integral to membrane		p.L1628L(1)|p.L1741L(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						GAGATAATCCGAGTTTGCTGA	0.463													27	56					0	0	1	0	0	A	98375500	G	A	98375500	2	1	81	1	0	0	0	0	0	0	0	1	16104	1045	37	1		1	TMEM131	2	98375500	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	86	98375500	144823873	2017	5633											
TMEM131	23505	broad.mit.edu	37	2	98383045	98383045	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:98383045G>T	ENST00000186436.5	-	34	4697	c.4469C>A	c.(4468-4470)aCt>aAt	p.T1490N		NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131	1490						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						CAAAGGGGGAGTATATGGTAG	0.383													11	123					4.36969e-10	5.3233e-10	1	1	0	T	98383045	G	T	98383045	3	4	81	1	0	0	0	0	1	0	0	0	16104	1029	36	4	1214	4	TMEM131	2	98383045	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	7545	98383045	144816328	2018	5634											
TMEM131	23505	broad.mit.edu	37	2	98409946	98409946	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:98409946G>A	ENST00000186436.5	-	30	3685	c.3457C>T	c.(3457-3459)Cgg>Tgg	p.R1153W		NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131	1153						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						AAGGATAGCCGCCTTCGAAAT	0.453													20	13					0	0	1	0	0	A	98409946	G	A	98409946	3	1	81	1	0	0	0	0	1	0	0	0	16104	1086	38	1	2242	1	TMEM131	2	98409946	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	26901	98409946	144789427	2019	5635											
VWA3B	200403	broad.mit.edu	37	2	98736143	98736143	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:98736143G>T	ENST00000477737.1	+	4	663	c.459G>T	c.(457-459)gaG>gaT	p.E153D	VWA3B_ENST00000435344.1_Missense_Mutation_p.E153D|VWA3B_ENST00000451075.2_Intron	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	153										NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						GCATTCTGGAGGGGGAGCTTG	0.522													21	190					5.26018e-13	6.61446e-13	1	1	0	T	98736143	G	T	98736143	3	4	81	1	0	0	0	0	1	0	0	0	17301	991	35	4	469	4	VWA3B	2	98736143	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	326197	98736143	144463230	2020	5636											
VWA3B	200403	broad.mit.edu	37	2	98834390	98834390	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:98834390A>C	ENST00000477737.1	+	14	2122	c.1918A>C	c.(1918-1920)Att>Ctt	p.I640L		NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	640	VWFA.									NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						CAATGATGAGATTGCAAACAG	0.403													3	51					0	0	1	0	0	C	98834390	A	C	98834390	3	2	81	1	0	0	0	0	1	0	0	0	17301	333	12	4	1968	4	VWA3B	2	98834390	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	98247	98834390	144364983	2021	5637											
VWA3B	200403	broad.mit.edu	37	2	98852926	98852926	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:98852926G>T	ENST00000477737.1	+	18	2706	c.2502G>T	c.(2500-2502)caG>caT	p.Q834H		NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	834										NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						AAGGAAGCCAGGTTTATGACC	0.433													36	37					9.17885e-22	1.2033e-21	1	1	0	T	98852926	G	T	98852926	3	4	81	1	0	0	0	0	1	0	0	0	17301	991	35	4	2568	4	VWA3B	2	98852926	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	18536	98852926	144346447	2022	5638											
VWA3B	200403	broad.mit.edu	37	2	98928714	98928714	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:98928714G>A	ENST00000477737.1	+	28	3991	c.3787G>A	c.(3787-3789)Gcc>Acc	p.A1263T	VWA3B_ENST00000490947.2_3'UTR	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	1263										NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						CAGCAGCCACGCCATCATTGC	0.597													28	30					0	0	1	0	0	A	98928714	G	A	98928714	3	1	81	1	0	0	0	0	1	0	0	0	17301	1087	38	1	3893	1	VWA3B	2	98928714	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	75788	98928714	144270659	2023	5639											
CNGA3	1261	broad.mit.edu	37	2	98999890	98999890	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:98999890C>T	ENST00000393504.1	+	5	852	c.435C>T	c.(433-435)aaC>aaT	p.N145N	CNGA3_ENST00000409937.1_Silent_p.N149N|CNGA3_ENST00000272602.2_Silent_p.N145N|CNGA3_ENST00000436404.2_Intron	NM_001298.2	NP_001289.1	Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3	145					signal transduction|visual perception	integral to membrane	cGMP binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						ACACCAGCAACAACACGGAGG	0.582													7	22					0	0	1	0	0	T	98999890	C	T	98999890	2	4	81	1	0	0	0	0	0	0	0	1	3621	477	17	2		2	CNGA3	2	98999890	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	71176	98999890	144199483	2024	5640											
CNGA3	1261	broad.mit.edu	37	2	99013275	99013275	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:99013275G>A	ENST00000393504.1	+	8	2059	c.1642G>A	c.(1642-1644)Ggg>Agg	p.G548R	CNGA3_ENST00000409937.1_Missense_Mutation_p.G552R|CNGA3_ENST00000272602.2_Missense_Mutation_p.G548R|CNGA3_ENST00000436404.2_Missense_Mutation_p.G530R	NM_001298.2	NP_001289.1	Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3	548			G -> R (in ACHM2).		signal transduction|visual perception	integral to membrane	cGMP binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						CAGCTACTTCGGGGAGATCAG	0.562													9	133					0	0	1	0	0	A	99013275	G	A	99013275	3	1	81	1	0	0	0	0	1	0	0	0	3621	1116	39	1	1668	1	CNGA3	2	99013275	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	13385	99013275	144186098	2025	5641											
INPP4A	3631	broad.mit.edu	37	2	99182579	99182579	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:99182579G>A	ENST00000409016.4	+	22	2662	c.2265G>A	c.(2263-2265)gtG>gtA	p.V755V	INPP4A_ENST00000545415.1_Silent_p.V755V|INPP4A_ENST00000409851.3_Silent_p.V789V|INPP4A_ENST00000523221.1_Silent_p.V794V|INPP4A_ENST00000409463.1_Silent_p.V123V|INPP4A_ENST00000409540.3_Silent_p.V755V|INPP4A_ENST00000467042.1_3'UTR|INPP4A_ENST00000074304.5_Silent_p.V794V			Q96PE3	INP4A_HUMAN	inositol polyphosphate-4-phosphatase, type I, 107kDa						signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity			breast(1)|endometrium(9)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(4)|upper_aerodigestive_tract(4)	43						TGCTGCGAGTGCAGCCCGTCC	0.667													4	4					0	0	1	0	0	A	99182579	G	A	99182579	2	1	81	1	0	0	0	0	0	0	0	1	7796	1306	46	2		2	INPP4A	2	99182579	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	169304	99182579	144016794	2026	5642											
MRPL30	51263	broad.mit.edu	37	2	99811658	99811658	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:99811658T>G	ENST00000410042.1	+	6	566	c.359T>G	c.(358-360)gTt>gGt	p.V120G	C2orf15_ENST00000512183.2_Intron|MRPL30_ENST00000338148.3_Intron|MRPL30_ENST00000465432.1_Intron			Q8TCC3	RM30_HUMAN	mitochondrial ribosomal protein L30	0					translation	mitochondrion|ribosome	structural constituent of ribosome			breast(1)|endometrium(1)|kidney(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	10						ATAAGGTTTGTTGTTTCTTCT	0.303													44	62					0	0	1	0	0	G	99811658	T	G	99811658	3	3	81	1	0	0	0	0	1	0	0	0	9843	1740	60	5		5	MRPL30	2	99811658	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	629079	99811658	143387715	2027	5643											
EIF5B	9669	broad.mit.edu	37	2	100013244	100013244	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:100013244C>T	ENST00000289371.6	+	22	3478	c.3276C>T	c.(3274-3276)tgC>tgT	p.C1092C		NM_015904.3	NP_056988.3	O60841	IF2P_HUMAN	eukaryotic translation initiation factor 5B						regulation of translational initiation	cytosol	GTP binding|GTPase activity|protein binding|translation initiation factor activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						TATTTCCCTGCAAGATAAAAA	0.408													8	126					0	0	1	0	0	T	100013244	C	T	100013244	2	4	81	1	0	0	0	0	0	0	0	1	5072	718	25	2		2	EIF5B	2	100013244	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	201586	100013244	143186129	2028	5644											
AFF3	3899	broad.mit.edu	37	2	100210419	100210419	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:100210419G>T	ENST00000409236.2	-	13	1816	c.1704C>A	c.(1702-1704)ccC>ccA	p.P568P	AFF3_ENST00000317233.4_Silent_p.P568P|AFF3_ENST00000356421.2_Silent_p.P593P|AFF3_ENST00000409579.1_Silent_p.P593P			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3						multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						CGGGCGCACAGGGCACTGCGG	0.751													5	29					1.23904e-05	1.39156e-05	1	1	0	T	100210419	G	T	100210419	2	4	81	1	0	0	0	0	0	0	0	1	357	987	35	4		4	AFF3	2	100210419	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	197175	100210419	142988954	2029	5645											
AFF3	3899	broad.mit.edu	37	2	100210453	100210453	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:100210453G>A	ENST00000409236.2	-	13	1782	c.1670C>T	c.(1669-1671)gCg>gTg	p.A557V	AFF3_ENST00000317233.4_Missense_Mutation_p.A557V|AFF3_ENST00000356421.2_Missense_Mutation_p.A582V|AFF3_ENST00000409579.1_Missense_Mutation_p.A582V			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3						multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						TGCGCTCACCGCCACGGCCAC	0.721													26	43					0	0	1	0	0	A	100210453	G	A	100210453	3	1	81	1	0	0	0	0	1	0	0	0	357	1087	38	1	2054	1	AFF3	2	100210453	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	34	100210453	142988920	2030	5646											
CHST10	9486	broad.mit.edu	37	2	101010027	101010027	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:101010027A>G	ENST00000264249.3	-	7	1136	c.751T>C	c.(751-753)Tgg>Cgg	p.W251R	CHST10_ENST00000409701.1_Missense_Mutation_p.W251R|CHST10_ENST00000542617.1_Missense_Mutation_p.W299R	NM_004854.4	NP_004845.1	O43529	CHSTA_HUMAN	carbohydrate sulfotransferase 10	251					carbohydrate biosynthetic process|cell adhesion	Golgi membrane|integral to membrane|membrane fraction				breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)	16						AGGTCTAGCCATCTGTGGTTC	0.522													15	165					0	0	1	0	0	G	101010027	A	G	101010027	3	3	81	1	0	0	0	0	1	0	0	0	3420	217	8	3	323	3	CHST10	2	101010027	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	799574	101010027	142189346	2031	5647											
PDCL3	79031	broad.mit.edu	37	2	101183071	101183071	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:101183071G>A	ENST00000264254.6	+	2	491	c.113G>A	c.(112-114)cGc>cAc	p.R38H		NM_024065.4	NP_076970.1	Q9H2J4	PDCL3_HUMAN	phosducin-like 3	38					apoptosis|interspecies interaction between organisms	cytoplasm	protein binding			endometrium(3)|large_intestine(2)|liver(1)|lung(6)	12						GAGGAGCAGCGCATCCTCCAG	0.527													17	24					0	0	1	0	0	A	101183071	G	A	101183071	3	1	81	1	0	0	0	0	1	0	0	0	11675	1087	38	1	119	1	PDCL3	2	101183071	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	173044	101183071	142016302	2032	5648											
PDCL3	79031	broad.mit.edu	37	2	101185443	101185443	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:101185443G>A	ENST00000264254.6	+	3	562	c.184G>A	c.(184-186)Gag>Aag	p.E62K		NM_024065.4	NP_076970.1	Q9H2J4	PDCL3_HUMAN	phosducin-like 3	62					apoptosis|interspecies interaction between organisms	cytoplasm	protein binding			endometrium(3)|large_intestine(2)|liver(1)|lung(6)	12						TCATGAAGACGAGTTTAATGA	0.363													28	48					0	0	1	0	0	A	101185443	G	A	101185443	3	1	81	1	0	0	0	0	1	0	0	0	11675	1059	37	1	194	1	PDCL3	2	101185443	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2372	101185443	142013930	2033	5649											
NPAS2	4862	broad.mit.edu	37	2	101587504	101587504	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:101587504C>T	ENST00000335681.5	+	12	1393	c.1108C>T	c.(1108-1110)Cca>Tca	p.P370S	NPAS2_ENST00000542504.1_Missense_Mutation_p.P435S	NM_002518.3	NP_002509.2	Q99743	NPAS2_HUMAN	neuronal PAS domain protein 2	370					central nervous system development|positive regulation of transcription from RNA polymerase II promoter|rhythmic process	transcription factor complex	DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			cervix(1)|endometrium(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GGAAGACCCGCCATCCGAGGC	0.557													14	33					0	0	1	0	0	T	101587504	C	T	101587504	3	4	81	1	0	0	0	0	1	0	0	0	10610	739	26	2	1150	2	NPAS2	2	101587504	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	402061	101587504	141611869	2034	5650											
NPAS2	4862	broad.mit.edu	37	2	101591354	101591354	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:101591354G>A	ENST00000335681.5	+	13	1515	c.1230G>A	c.(1228-1230)gcG>gcA	p.A410A	NPAS2_ENST00000542504.1_Silent_p.A475A|AC016738.3_ENST00000446644.1_RNA|AC016738.3_ENST00000439150.1_RNA	NM_002518.3	NP_002509.2	Q99743	NPAS2_HUMAN	neuronal PAS domain protein 2	410					central nervous system development|positive regulation of transcription from RNA polymerase II promoter|rhythmic process	transcription factor complex	DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			cervix(1)|endometrium(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CGCCATCGGCGTCCTCAAGAA	0.562													16	29					0	0	1	0	0	A	101591354	G	A	101591354	2	1	81	1	0	0	0	0	0	0	0	1	10610	1132	40	1		1	NPAS2	2	101591354	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	3850	101591354	141608019	2035	5651											
TBC1D8	11138	broad.mit.edu	37	2	101648805	101648805	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:101648805C>A	ENST00000409318.1	-	11	1991	c.1861G>T	c.(1861-1863)Gag>Tag	p.E621*	TBC1D8_ENST00000376840.4_Nonsense_Mutation_p.E606*	NM_001102426.1	NP_001095896.1	O95759	TBCD8_HUMAN	TBC1 domain family, member 8 (with GRAM domain)	606	Rab-GAP TBC.				blood circulation|positive regulation of cell proliferation	intracellular|membrane	calcium ion binding|Rab GTPase activator activity			breast(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	32						GCTTCCTCCTCCTTGGTGTAC	0.567													9	17					9.70103e-10	1.17698e-09	1	1	0	A	101648805	C	A	101648805	4	1	81	1	0	0	0	0	0	1	0	0	15685	864	30	5	1646	5	TBC1D8	2	101648805	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	57451	101648805	141550568	2036	5652											
TBC1D8	11138	broad.mit.edu	37	2	101654024	101654024	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:101654024C>T	ENST00000409318.1	-	8	1552	c.1422G>A	c.(1420-1422)caG>caA	p.Q474Q	TBC1D8_ENST00000376840.4_Silent_p.Q459Q	NM_001102426.1	NP_001095896.1	O95759	TBCD8_HUMAN	TBC1 domain family, member 8 (with GRAM domain)	459					blood circulation|positive regulation of cell proliferation	intracellular|membrane	calcium ion binding|Rab GTPase activator activity			breast(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	32						GGCTGCCTGACTGCTGGAAGG	0.597													29	57					0	0	1	0	0	T	101654024	C	T	101654024	2	4	81	1	0	0	0	0	0	0	0	1	15685	564	20	2		2	TBC1D8	2	101654024	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	5219	101654024	141545349	2037	5653											
RNF149	284996	broad.mit.edu	37	2	101898453	101898453	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:101898453T>C	ENST00000295317.3	-	6	1134	c.1027A>G	c.(1027-1029)Aat>Gat	p.N343D		NM_173647.3	NP_775918.2	Q8NC42	RN149_HUMAN	ring finger protein 149	343						integral to membrane	ligase activity|zinc ion binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	12						AGACTCAAATTTGCAGCTGGA	0.488													35	59					0	0	1	0	0	C	101898453	T	C	101898453	3	2	81	1	0	0	0	0	1	0	0	0	13502	1841	64	3	183	3	RNF149	2	101898453	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	244429	101898453	141300920	2038	5654											
MAP4K4	9448	broad.mit.edu	37	2	102456416	102456416	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:102456416G>T	ENST00000413150.2	+	10	964	c.909G>T	c.(907-909)aaG>aaT	p.K303N	MAP4K4_ENST00000324219.4_Missense_Mutation_p.K303N|MAP4K4_ENST00000425019.1_Missense_Mutation_p.K303N|MAP4K4_ENST00000350198.4_Missense_Mutation_p.K303N|MAP4K4_ENST00000347699.4_Missense_Mutation_p.K303N|MAP4K4_ENST00000302217.5_Intron|MAP4K4_ENST00000350878.4_Missense_Mutation_p.K283N|MAP4K4_ENST00000456652.1_Intron	NM_001242560.1|NM_004834.4	NP_001229489.1|NP_004825.3	O95819	M4K4_HUMAN	mitogen-activated protein kinase kinase kinase kinase 4	303					intracellular protein kinase cascade|regulation of JNK cascade|response to stress	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						TCCAGCTTAAGGATCATATAG	0.388													27	43					1.7367e-05	1.94734e-05	1	1	0	T	102456416	G	T	102456416	3	4	81	1	0	0	0	0	1	0	0	0	9312	991	35	4	947	4	MAP4K4	2	102456416	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	557963	102456416	140742957	2039	5655											
IL1R2	7850	broad.mit.edu	37	2	102626164	102626164	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:102626164C>T	ENST00000332549.3	+	3	437	c.208C>T	c.(208-210)Cat>Tat	p.H70Y	IL1R2_ENST00000393414.2_Missense_Mutation_p.H70Y|IL1R2_ENST00000441002.1_Missense_Mutation_p.H70Y	NM_004633.3	NP_004624.1	P27930	IL1R2_HUMAN	interleukin 1 receptor, type II	70	Ig-like C2-type 1.				immune response	integral to membrane|plasma membrane	interleukin-1, Type II, blocking receptor activity			breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)	28					Anakinra(DB00026)	CCTGACATGGCATAAAAATGA	0.617													89	130					0	0	1	0	0	T	102626164	C	T	102626164	3	4	81	1	0	0	0	0	1	0	0	0	7703	710	25	2	214	2	IL1R2	2	102626164	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	169748	102626164	140573209	2040	5656											
IL1R2	7850	broad.mit.edu	37	2	102626209	102626209	+	Missense_Mutation	SNP	C	C	T	rs139061430	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:102626209C>T	ENST00000332549.3	+	3	482	c.253C>T	c.(253-255)Cgg>Tgg	p.R85W	IL1R2_ENST00000393414.2_Missense_Mutation_p.R85W|IL1R2_ENST00000441002.1_Missense_Mutation_p.R85W	NM_004633.3	NP_004624.1	P27930	IL1R2_HUMAN	interleukin 1 receptor, type II	85	Ig-like C2-type 1.				immune response	integral to membrane|plasma membrane	interleukin-1, Type II, blocking receptor activity			breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)	28					Anakinra(DB00026)	AGAAGAGACACGGATGTGGGC	0.597													8	194					0	0	1	0	0	T	102626209	C	T	102626209	3	4	81	1	0	0	0	0	1	0	0	0	7703	527	19	1	259	1	IL1R2	2	102626209	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	45	102626209	140573164	2041	5657											
IL1RL2	8808	broad.mit.edu	37	2	102842450	102842450	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:102842450G>A	ENST00000264257.2	+	9	1210	c.1084G>A	c.(1084-1086)Gac>Aac	p.D362N	IL1RL2_ENST00000441515.2_Missense_Mutation_p.D244N|IL1RL2_ENST00000481806.1_3'UTR|IL1RL2_ENST00000539491.1_Missense_Mutation_p.D362N	NM_003854.2	NP_003845.2	Q9HB29	ILRL2_HUMAN	interleukin 1 receptor-like 2	362					cellular defense response|innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|liver(2)|lung(8)|ovary(2)|prostate(1)	26						TTTTAAGATCGACATTGTTCT	0.408													25	48					0	0	1	0	0	A	102842450	G	A	102842450	3	1	81	1	0	0	0	0	1	0	0	0	7708	1058	37	1	1114	1	IL1RL2	2	102842450	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	216241	102842450	140356923	2042	5658											
IL1RL1	9173	broad.mit.edu	37	2	102958715	102958715	+	Missense_Mutation	SNP	G	G	A	rs75320001	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:102958715G>A	ENST00000311734.2	+	6	982	c.643G>A	c.(643-645)Gga>Aga	p.G215R	IL1RL1_ENST00000409584.1_Missense_Mutation_p.G215R|IL1RL1_ENST00000404917.2_Missense_Mutation_p.G98R|IL1RL1_ENST00000233954.1_Missense_Mutation_p.G215R	NM_001282408.1	NP_001269337.1	Q01638	ILRL1_HUMAN	interleukin 1 receptor-like 1	215	Ig-like C2-type 3.				innate immune response	integral to membrane	interleukin-1 receptor activity|receptor signaling protein activity	p.G215R(1)		NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1)	16						TCCAGTAATCGGAGCCCCTGC	0.338													22	35					0	0	1	0	0	A	102958715	G	A	102958715	3	1	81	1	0	0	0	0	1	0	0	0	7707	1117	39	1	661	1	IL1RL1	2	102958715	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	116265	102958715	140240658	2043	5659											
IL1RL1	9173	broad.mit.edu	37	2	102958729	102958729	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:102958729A>G	ENST00000311734.2	+	6	996	c.657A>G	c.(655-657)caA>caG	p.Q219Q	IL1RL1_ENST00000409584.1_Silent_p.Q219Q|IL1RL1_ENST00000404917.2_Silent_p.Q102Q|IL1RL1_ENST00000233954.1_Silent_p.Q219Q	NM_001282408.1	NP_001269337.1	Q01638	ILRL1_HUMAN	interleukin 1 receptor-like 1	219	Ig-like C2-type 3.				innate immune response	integral to membrane	interleukin-1 receptor activity|receptor signaling protein activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1)	16						CCCCTGCACAAAATGAAATAA	0.353													18	38					0	0	1	0	0	G	102958729	A	G	102958729	2	3	81	1	0	0	0	0	0	0	0	1	7707	11	1	3		3	IL1RL1	2	102958729	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	14	102958729	140240644	2044	5660											
IL1RL1	9173	broad.mit.edu	37	2	102968195	102968195	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:102968195G>A	ENST00000233954.1	+	11	1756	c.1485G>A	c.(1483-1485)gcG>gcA	p.A495A		NM_016232.4	NP_057316.3	Q01638	ILRL1_HUMAN	interleukin 1 receptor-like 1	495	TIR.				innate immune response	integral to membrane	interleukin-1 receptor activity|receptor signaling protein activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1)	16						AGGCTGAGGCGCTTCAGGACT	0.527													11	24					0	0	1	0	0	A	102968195	G	A	102968195	2	1	81	1	0	0	0	0	0	0	0	1	7707	1074	38	1		1	IL1RL1	2	102968195	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	9466	102968195	140231178	2045	5661											
IL18RAP	8807	broad.mit.edu	37	2	103068357	103068357	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:103068357A>G	ENST00000264260.2	+	12	2105	c.1516A>G	c.(1516-1518)Aca>Gca	p.T506A	IL18RAP_ENST00000409369.1_Missense_Mutation_p.T364A	NM_003853.2	NP_003844.1	O95256	I18RA_HUMAN	interleukin 18 receptor accessory protein	506	TIR.				cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						GGATGATCAAACACTGAAACT	0.413													43	53					0	0	1	0	0	G	103068357	A	G	103068357	3	3	81	1	0	0	0	0	1	0	0	0	7692	43	2	3	1554	3	IL18RAP	2	103068357	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	100162	103068357	140131016	2046	5662											
IL18RAP	8807	broad.mit.edu	37	2	103068626	103068626	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:103068626G>A	ENST00000264260.2	+	12	2374	c.1785G>A	c.(1783-1785)caG>caA	p.Q595Q	IL18RAP_ENST00000409369.1_Silent_p.Q453Q	NM_003853.2	NP_003844.1	O95256	I18RA_HUMAN	interleukin 18 receptor accessory protein	595					cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						GGAGCTCCCAGCCTAAGGAAT	0.507													30	65					0	0	1	0	0	A	103068626	G	A	103068626	2	1	81	1	0	0	0	0	0	0	0	1	7692	962	34	2		2	IL18RAP	2	103068626	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	269	103068626	140130747	2047	5663											
SLC9A4	389015	broad.mit.edu	37	2	103095459	103095459	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:103095459C>A	ENST00000295269.4	+	2	875	c.418C>A	c.(418-420)Ctg>Atg	p.L140M		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	140					regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						ACCCATCGTTCTGGAGGGCGG	0.612													8	46					0.010729	0.0111384	1	1	0	A	103095459	C	A	103095459	3	1	81	1	0	0	0	0	1	0	0	0	14771	912	32	4	424	4	SLC9A4	2	103095459	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	26833	103095459	140103914	2048	5664											
SLC9A4	389015	broad.mit.edu	37	2	103119909	103119909	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:103119909C>T	ENST00000295269.4	+	3	1180	c.723C>T	c.(721-723)gtC>gtT	p.V241V		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	241					regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						TTGCCTAGGTCTTATACAATA	0.358													5	4					0	0	1	0	0	T	103119909	C	T	103119909	2	4	81	1	0	0	0	0	0	0	0	1	14771	900	32	2		2	SLC9A4	2	103119909	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	24450	103119909	140079464	2049	5665											
SLC9A2	6549	broad.mit.edu	37	2	103274445	103274445	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:103274445C>A	ENST00000233969.2	+	2	854	c.712C>A	c.(712-714)Ctg>Atg	p.L238M		NM_003048.3	NP_003039.2	Q9UBY0	SL9A2_HUMAN	solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2	238						integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						GCTCTACATCCTGGTCTTTGG	0.527													11	116					1.08611e-07	1.27405e-07	1	1	0	A	103274445	C	A	103274445	3	1	81	1	0	0	0	0	1	0	0	0	14767	680	24	4	718	4	SLC9A2	2	103274445	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	154536	103274445	139924928	2050	5666											
SLC9A2	6549	broad.mit.edu	37	2	103300674	103300674	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:103300674G>A	ENST00000233969.2	+	5	1446	c.1304G>A	c.(1303-1305)gGa>gAa	p.G435E		NM_003048.3	NP_003039.2	Q9UBY0	SL9A2_HUMAN	solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2	435						integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						ATTGCCTATGGAGGACTTCGA	0.448													45	95					0	0	1	0	0	A	103300674	G	A	103300674	3	1	81	1	0	0	0	0	1	0	0	0	14767	1174	41	2	1322	2	SLC9A2	2	103300674	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	26229	103300674	139898699	2051	5667											
SLC9A2	6549	broad.mit.edu	37	2	103317600	103317600	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:103317600T>C	ENST00000233969.2	+	8	1800	c.1658T>C	c.(1657-1659)gTa>gCa	p.V553A	SLC9A2_ENST00000469286.1_3'UTR	NM_003048.3	NP_003039.2	Q9UBY0	SL9A2_HUMAN	solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2	553						integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						TCAAGTATTGTATCTTTATAT	0.323													26	28					0	0	1	0	0	C	103317600	T	C	103317600	3	2	81	1	0	0	0	0	1	0	0	0	14767	1638	57	3	1688	3	SLC9A2	2	103317600	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	16926	103317600	139881773	2052	5668											
MFSD9	84804	broad.mit.edu	37	2	103335385	103335385	+	Missense_Mutation	SNP	C	C	T	rs34240435		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:103335385C>T	ENST00000258436.5	-	6	962	c.919G>A	c.(919-921)Gtc>Atc	p.V307I		NM_032718.3	NP_116107.3	Q8NBP5	MFSD9_HUMAN	major facilitator superfamily domain containing 9	307					transmembrane transport	integral to membrane|plasma membrane	transporter activity			breast(3)|large_intestine(7)|liver(1)|lung(6)|ovary(2)|skin(1)	20						AGGGCCAGGACAAAGTTACTG	0.577													5	38					0	0	1	0	0	T	103335385	C	T	103335385	3	4	81	1	0	0	0	0	1	0	0	0	9589	478	17	2	509	2	MFSD9	2	103335385	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	17785	103335385	139863988	2053	5669											
TMEM182	130827	broad.mit.edu	37	2	103378809	103378809	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:103378809G>A	ENST00000412401.2	+	1	337		c.e1+1		TMEM182_ENST00000409528.1_Intron|TMEM182_ENST00000409173.1_Intron	NM_144632.3	NP_653233.3	Q6ZP80	TM182_HUMAN	transmembrane protein 182							integral to membrane				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)	11						TGAAAAGAATGTGAGTCTCTT	0.403													13	115					0	0	1	0	0	A	103378809	G	A	103378809	5	1	81	1	0	0	0	0	0	0	1	0	16161	1391	48	2	135	2	TMEM182	2	103378809	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	43424	103378809	139820564	2054	5670											
MRPS9	64965	broad.mit.edu	37	2	105713700	105713700	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:105713700G>A	ENST00000258455.3	+	10	1127	c.1017G>A	c.(1015-1017)gcG>gcA	p.A339A	AC104655.2_ENST00000449177.1_RNA|AC104655.2_ENST00000432211.1_RNA	NM_182640.2	NP_872578.1	P82933	RT09_HUMAN	mitochondrial ribosomal protein S9	339					DNA damage response, detection of DNA damage|translation	mitochondrial small ribosomal subunit	protein binding|structural constituent of ribosome			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18						GGAGGTCAGCGCAGGCTGGAG	0.557													25	36					0	0	1	0	0	A	105713700	G	A	105713700	2	1	81	1	0	0	0	0	0	0	0	1	9898	1074	38	1		1	MRPS9	2	105713700	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2334891	105713700	137485673	2055	5671											
GPR45	11250	broad.mit.edu	37	2	105858813	105858813	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:105858813G>A	ENST00000258456.1	+	1	614	c.498G>A	c.(496-498)tcG>tcA	p.S166S		NM_007227.3	NP_009158.3	Q9Y5Y3	GPR45_HUMAN	G protein-coupled receptor 45	166						integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	28						CGGGGCCCTCGCTCACGGGCT	0.692													9	15					0	0	1	0	0	A	105858813	G	A	105858813	2	1	81	1	0	0	0	0	0	0	0	1	6736	1074	38	1		1	GPR45	2	105858813	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	145113	105858813	137340560	2056	5672											
TGFBRAP1	9392	broad.mit.edu	37	2	105885808	105885808	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:105885808T>C	ENST00000393359.2	-	11	2753	c.2327A>G	c.(2326-2328)gAc>gGc	p.D776G	TGFBRAP1_ENST00000258449.1_Missense_Mutation_p.D776G			Q8WUH2	TGFA1_HUMAN	transforming growth factor, beta receptor associated protein 1	776					regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|membrane	SMAD binding|small GTPase regulator activity|transforming growth factor beta receptor binding			central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	31						ATGGATGCTGTCCCTCATGGC	0.602													10	17					0	0	1	0	0	C	105885808	T	C	105885808	3	2	81	1	0	0	0	0	1	0	0	0	15884	1667	58	3	263	3	TGFBRAP1	2	105885808	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	26995	105885808	137313565	2057	5673											
TGFBRAP1	9392	broad.mit.edu	37	2	105889457	105889457	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:105889457G>A	ENST00000393359.2	-	10	2253	c.1827C>T	c.(1825-1827)caC>caT	p.H609H	TGFBRAP1_ENST00000258449.1_Silent_p.H609H			Q8WUH2	TGFA1_HUMAN	transforming growth factor, beta receptor associated protein 1	609					regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|membrane	SMAD binding|small GTPase regulator activity|transforming growth factor beta receptor binding			central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	31						CTAAGTGGGTGTGATACTCTT	0.592													7	54					0	0	1	0	0	A	105889457	G	A	105889457	2	1	81	1	0	0	0	0	0	0	0	1	15884	1368	48	2		2	TGFBRAP1	2	105889457	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	3649	105889457	137309916	2058	5674											
TGFBRAP1	9392	broad.mit.edu	37	2	105896980	105896980	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:105896980G>A	ENST00000393359.2	-	6	1748	c.1322C>T	c.(1321-1323)gCa>gTa	p.A441V	TGFBRAP1_ENST00000258449.1_Missense_Mutation_p.A441V			Q8WUH2	TGFA1_HUMAN	transforming growth factor, beta receptor associated protein 1	441					regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|membrane	SMAD binding|small GTPase regulator activity|transforming growth factor beta receptor binding			central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	31						GTAGCCATTTGCTACCTCTGT	0.562													23	34					0	0	1	0	0	A	105896980	G	A	105896980	3	1	81	1	0	0	0	0	1	0	0	0	15884	1319	46	2	1288	2	TGFBRAP1	2	105896980	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	7523	105896980	137302393	2059	5675											
TGFBRAP1	9392	broad.mit.edu	37	2	105924279	105924279	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:105924279G>A	ENST00000393359.2	-	2	906	c.480C>T	c.(478-480)atC>atT	p.I160I	TGFBRAP1_ENST00000258449.1_Silent_p.I160I			Q8WUH2	TGFA1_HUMAN	transforming growth factor, beta receptor associated protein 1	160	CNH.				regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|membrane	SMAD binding|small GTPase regulator activity|transforming growth factor beta receptor binding			central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	31						CCTCCTTGACGATCTGCACCC	0.552													78	105					0	0	1	0	0	A	105924279	G	A	105924279	2	1	81	1	0	0	0	0	0	0	0	1	15884	1048	37	1		1	TGFBRAP1	2	105924279	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	27299	105924279	137275094	2060	5676											
TGFBRAP1	9392	broad.mit.edu	37	2	105924676	105924676	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:105924676T>A	ENST00000393359.2	-	2	509	c.83A>T	c.(82-84)gAg>gTg	p.E28V	TGFBRAP1_ENST00000258449.1_Missense_Mutation_p.E28V			Q8WUH2	TGFA1_HUMAN	transforming growth factor, beta receptor associated protein 1	28	CNH.				regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|membrane	SMAD binding|small GTPase regulator activity|transforming growth factor beta receptor binding			central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	31						CTCCACGCACTCTATGTTGAC	0.597													4	36					0	0	1	0	0	A	105924676	T	A	105924676	3	1	81	1	0	0	0	0	1	0	0	0	15884	1551	54	5	2543	5	TGFBRAP1	2	105924676	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	397	105924676	137274697	2061	5677											
C2orf40	84417	broad.mit.edu	37	2	106690484	106690484	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:106690484G>A	ENST00000409944.1	+	4	393	c.162G>A	c.(160-162)atG>atA	p.M54I	C2orf40_ENST00000238044.3_Missense_Mutation_p.M90I|C2orf40_ENST00000489174.1_3'UTR			Q9H1Z8	AUGN_HUMAN	chromosome 2 open reading frame 40	90						extracellular region|transport vesicle				lung(7)|urinary_tract(1)	8						TTCTCTACATGGGCTTTGACG	0.617													17	53					0	0	1	0	0	A	106690484	G	A	106690484	3	1	81	1	0	0	0	0	1	0	0	0	2179	1348	47	2	280	2	C2orf40	2	106690484	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	765808	106690484	136508889	2062	5678											
ST6GAL2	84620	broad.mit.edu	37	2	107450509	107450509	+	Missense_Mutation	SNP	G	G	A	rs138821621		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:107450509G>A	ENST00000409382.3	-	3	1647	c.1037C>T	c.(1036-1038)tCg>tTg	p.S346L	ST6GAL2_ENST00000361686.4_Missense_Mutation_p.S346L|ST6GAL2_ENST00000409087.3_Missense_Mutation_p.S346L	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	346					growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity	p.S346L(2)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						TCTTACCTGCGAATTAATGAT	0.393													33	81					0	0	1	0	0	A	107450509	G	A	107450509	3	1	81	1	0	0	0	0	1	0	0	0	15278	1059	37	1	655	1	ST6GAL2	2	107450509	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	760025	107450509	135748864	2063	5679											
SULT1C3	442038	broad.mit.edu	37	2	108863776	108863776	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:108863776C>A	ENST00000329106.2	+	1	126	c.126C>A	c.(124-126)ttC>ttA	p.F42L	SULT1C3_ENST00000376700.1_Missense_Mutation_p.F42L	NM_001008743.1	NP_001008743.1	Q6IMI6	ST1C3_HUMAN	sulfotransferase family, cytosolic, 1C, member 3	42						cytoplasm	alcohol sulfotransferase activity			breast(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(4)	16						TATGTAATTTCCAAGCCAAGC	0.358													32	47					8.16721e-17	1.05009e-16	1	1	0	A	108863776	C	A	108863776	3	1	81	1	0	0	0	0	1	0	0	0	15434	854	30	5	128	5	SULT1C3	2	108863776	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1413267	108863776	134335597	2064	5680											
SULT1C2	6819	broad.mit.edu	37	2	108921631	108921631	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:108921631T>G	ENST00000326853.5	+	7	992	c.539T>G	c.(538-540)gTt>gGt	p.V180G	SULT1C2_ENST00000251481.6_Missense_Mutation_p.V169G|SULT1C2_ENST00000409880.1_Missense_Mutation_p.V132G|SULT1C2_ENST00000437390.2_Missense_Mutation_p.V183G	NM_176825.2	NP_789795.1	O00338	ST1C2_HUMAN	sulfotransferase family, cytosolic, 1C, member 2	169					3'-phosphoadenosine 5'-phosphosulfate metabolic process|amine metabolic process|sulfation|xenobiotic metabolic process	cytosol|microtubule cytoskeleton	sulfotransferase activity			NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20						ATTTCAGTGGTTTGGGGTTCC	0.428													7	89					0	0	1	0	0	G	108921631	T	G	108921631	3	3	81	1	0	0	0	0	1	0	0	0	15433	1725	60	5	623	5	SULT1C2	2	108921631	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	57855	108921631	134277742	2065	5681											
SULT1C2	6819	broad.mit.edu	37	2	108921684	108921684	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:108921684C>T	ENST00000326853.5	+	7	1045	c.592C>T	c.(592-594)Cac>Tac	p.H198Y	SULT1C2_ENST00000251481.6_Missense_Mutation_p.H187Y|SULT1C2_ENST00000409880.1_Missense_Mutation_p.H150Y|SULT1C2_ENST00000437390.2_Missense_Mutation_p.H201Y	NM_176825.2	NP_789795.1	O00338	ST1C2_HUMAN	sulfotransferase family, cytosolic, 1C, member 2	187					3'-phosphoadenosine 5'-phosphosulfate metabolic process|amine metabolic process|sulfation|xenobiotic metabolic process	cytosol|microtubule cytoskeleton	sulfotransferase activity			NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20						GAAAGACAGACACCAGATTCT	0.438													9	92					0	0	1	0	0	T	108921684	C	T	108921684	3	4	81	1	0	0	0	0	1	0	0	0	15433	478	17	2	676	2	SULT1C2	2	108921684	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	53	108921684	134277689	2066	5682											
GCC2	9648	broad.mit.edu	37	2	109086935	109086935	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:109086935G>T	ENST00000309863.6	+	6	1864	c.1150G>T	c.(1150-1152)Gag>Tag	p.E384*		NM_181453.3	NP_852118	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain containing 2	384					Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum	membrane|trans-Golgi network	identical protein binding	p.E384Q(1)		breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						GGAAGACTTAGAGTTTAAAAT	0.284													34	46					7.11191e-15	9.0478e-15	1	1	0	T	109086935	G	T	109086935	4	4	81	1	0	0	0	0	0	1	0	0	6326	943	33	4	1172	4	GCC2	2	109086935	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	165251	109086935	134112438	2067	5683											
GCC2	9648	broad.mit.edu	37	2	109098228	109098228	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:109098228C>T	ENST00000309863.6	+	10	3850	c.3136C>T	c.(3136-3138)Cgt>Tgt	p.R1046C		NM_181453.3	NP_852118	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain containing 2	1046					Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum	membrane|trans-Golgi network	identical protein binding			breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						TTTTGAGCATCGTATTGAAGA	0.279													16	29					0	0	1	0	0	T	109098228	C	T	109098228	3	4	81	1	0	0	0	0	1	0	0	0	6326	884	31	1	3174	1	GCC2	2	109098228	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	11293	109098228	134101145	2068	5684											
GCC2	9648	broad.mit.edu	37	2	109103047	109103047	+	Silent	SNP	G	G	A	rs149849446		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:109103047G>A	ENST00000309863.6	+	16	4587	c.3873G>A	c.(3871-3873)acG>acA	p.T1291T		NM_181453.3	NP_852118	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain containing 2	1291					Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum	membrane|trans-Golgi network	identical protein binding			breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						ACCAGCGTACGCTAAGTGCAT	0.502													26	37					0	0	1	0	0	A	109103047	G	A	109103047	2	1	81	1	0	0	0	0	0	0	0	1	6326	1074	38	1		1	GCC2	2	109103047	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	4819	109103047	134096326	2069	5685											
LIMS1	3987	broad.mit.edu	37	2	109276098	109276098	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:109276098C>T	ENST00000393310.1	+	2	201	c.34C>T	c.(34-36)Cgc>Tgc	p.R12C	LIMS1_ENST00000462817.1_3'UTR|LIMS1_ENST00000332345.6_Missense_Mutation_p.R12C|LIMS1_ENST00000410093.1_Missense_Mutation_p.R16C|LIMS1_ENST00000409441.1_Missense_Mutation_p.R49C|LIMS1_ENST00000393314.2_Missense_Mutation_p.R74C|LIMS1_ENST00000338045.3_Missense_Mutation_p.R12C|LIMS1_ENST00000544547.1_Missense_Mutation_p.R24C|LIMS1_ENST00000542845.1_Missense_Mutation_p.R74C	NM_001193488.1	NP_001180417.1	P48059	LIMS1_HUMAN	LIM and senescent cell antigen-like domains 1	12	LIM zinc-binding 1.				cell aging|cell junction assembly|cellular response to transforming growth factor beta stimulus|negative regulation of transcription, DNA-dependent	cytosol|focal adhesion|perinuclear region of cytoplasm	protein binding|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	10						CACTTGCGAGCGCTGCAAGGG	0.562													20	58					0	0	1	0	0	T	109276098	C	T	109276098	3	4	81	1	0	0	0	0	1	0	0	0	8843	768	27	1	36	1	LIMS1	2	109276098	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	173051	109276098	133923275	2070	5686											
RANBP2	5903	broad.mit.edu	37	2	109368449	109368449	+	Splice_Site	SNP	C	C	T	rs121434502		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:109368449C>T	ENST00000283195.6	+	12	1880	c.1754C>T	c.(1753-1755)aCg>aTg	p.T585M		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	585			T -> M (associated with ANE1).		carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						CTTCAGAAAACGGTGAGTTTT	0.338													37	97					0	0	1	0	0	T	109368449	C	T	109368449	5	4	81	1	0	0	0	0	0	0	1	0	13080	550	19	1	1800	1	RANBP2	2	109368449	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	92351	109368449	133830924	2071	5687											
RANBP2	5903	broad.mit.edu	37	2	109383804	109383804	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:109383804G>T	ENST00000283195.6	+	20	6935	c.6809G>T	c.(6808-6810)aGt>aTt	p.S2270I		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	2270					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						TTTAACTTCAGTTTTAAATCT	0.408													91	170					1.04318e-46	1.40329e-46	1	1	0	T	109383804	G	T	109383804	3	4	81	1	0	0	0	0	1	0	0	0	13080	1029	36	4	6887	4	RANBP2	2	109383804	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	15355	109383804	133815569	2072	5688											
CCDC138	165055	broad.mit.edu	37	2	109405347	109405347	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:109405347C>T	ENST00000295124.4	+	3	251	c.191C>T	c.(190-192)tCg>tTg	p.S64L	CCDC138_ENST00000412964.2_Missense_Mutation_p.S64L|CCDC138_ENST00000470608.1_3'UTR	NM_144978.1	NP_659415.1	Q96M89	CC138_HUMAN	coiled-coil domain containing 138	64										endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	14						GTTGGTTCATCGTTAAAATAT	0.358													40	68					0	0	1	0	0	T	109405347	C	T	109405347	3	4	81	1	0	0	0	0	1	0	0	0	2790	893	31	1	201	1	CCDC138	2	109405347	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	21543	109405347	133794026	2073	5689											
CCDC138	165055	broad.mit.edu	37	2	109411018	109411018	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:109411018C>A	ENST00000295124.4	+	5	477	c.417C>A	c.(415-417)acC>acA	p.T139T	CCDC138_ENST00000412964.2_Silent_p.T139T|CCDC138_ENST00000470608.1_3'UTR	NM_144978.1	NP_659415.1	Q96M89	CC138_HUMAN	coiled-coil domain containing 138	139										endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	14						CTAATACGACCTCATCGAGAC	0.388													5	57					2.0095e-06	2.30238e-06	1	1	0	A	109411018	C	A	109411018	2	1	81	1	0	0	0	0	0	0	0	1	2790	668	24	4		4	CCDC138	2	109411018	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	5671	109411018	133788355	2074	5690											
EDAR	10913	broad.mit.edu	37	2	109513511	109513511	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:109513511C>T	ENST00000409271.1	-	12	1738	c.1295G>A	c.(1294-1296)cGc>cAc	p.R432H	EDAR_ENST00000376651.1_Missense_Mutation_p.R432H|EDAR_ENST00000258443.2_Missense_Mutation_p.R400H			Q9UNE0	EDAR_HUMAN	ectodysplasin A receptor	400					apoptosis|cell differentiation	integral to membrane	protein binding|transmembrane receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16						CGTGCTGATGCGGTCAAAGAG	0.567													8	22					0	0	1	0	0	T	109513511	C	T	109513511	3	4	81	1	0	0	0	0	1	0	0	0	4931	768	27	1	151	1	EDAR	2	109513511	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	102493	109513511	133685862	2075	5691											
SH3RF3	344558	broad.mit.edu	37	2	110015264	110015264	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:110015264G>A	ENST00000309415.6	+	4	1164	c.1164G>A	c.(1162-1164)acG>acA	p.T388T		NM_001099289.1	NP_001092759.1	Q8TEJ3	SH3R3_HUMAN	SH3 domain containing ring finger 3	388							zinc ion binding			endometrium(2)|kidney(1)|large_intestine(6)|liver(2)|lung(5)|ovary(2)	18						TCAGTGTGACGCACAGATCCT	0.592													9	9					0	0	1	0	0	A	110015264	G	A	110015264	2	1	81	1	0	0	0	0	0	0	0	1	14315	1074	38	1		1	SH3RF3	2	110015264	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	501753	110015264	133184109	2076	5692											
SH3RF3	344558	broad.mit.edu	37	2	110036088	110036088	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:110036088C>T	ENST00000309415.6	+	5	1393	c.1393C>T	c.(1393-1395)Ccc>Tcc	p.P465S		NM_001099289.1	NP_001092759.1	Q8TEJ3	SH3R3_HUMAN	SH3 domain containing ring finger 3	465	SH3 3.						zinc ion binding			endometrium(2)|kidney(1)|large_intestine(6)|liver(2)|lung(5)|ovary(2)	18						GGTCCAGCTGCCCCTCAACGT	0.662													4	4					0	0	1	0	0	T	110036088	C	T	110036088	3	4	81	1	0	0	0	0	1	0	0	0	14315	739	26	2	1411	2	SH3RF3	2	110036088	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	20824	110036088	133163285	2077	5693											
SH3RF3	344558	broad.mit.edu	37	2	110065843	110065843	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:110065843C>A	ENST00000309415.6	+	8	2046	c.2046C>A	c.(2044-2046)gcC>gcA	p.A682A		NM_001099289.1	NP_001092759.1	Q8TEJ3	SH3R3_HUMAN	SH3 domain containing ring finger 3	682							zinc ion binding			endometrium(2)|kidney(1)|large_intestine(6)|liver(2)|lung(5)|ovary(2)	18						ACGTCAGTGCCGCAAACCTCA	0.627													9	12					1.12685e-05	1.27052e-05	1	1	0	A	110065843	C	A	110065843	2	1	81	1	0	0	0	0	0	0	0	1	14315	639	23	5		5	SH3RF3	2	110065843	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	29755	110065843	133133530	2078	5694											
NPHP1	4867	broad.mit.edu	37	2	110907762	110907762	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:110907762G>T	ENST00000316534.4	-	12	1396	c.1323C>A	c.(1321-1323)ccC>ccA	p.P441P	NPHP1_ENST00000393272.3_Silent_p.P440P|NPHP1_ENST00000355301.4_Silent_p.P322P|NPHP1_ENST00000445609.2_Silent_p.P385P|NPHP1_ENST00000417665.1_Silent_p.P384P			O15259	NPHP1_HUMAN	nephronophthisis 1 (juvenile)	440					actin cytoskeleton organization|cell projection organization|cell-cell adhesion|excretion|retina development in camera-type eye|signal transduction|spermatid differentiation|visual behavior	adherens junction|cell-cell junction|cilium axoneme|cytoplasm|cytoskeleton|motile cilium|photoreceptor connecting cilium	protein binding|structural molecule activity			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(2)	24						TACTTACCTGGGGAGAAAAGG	0.373													33	71					2.80507e-11	3.47019e-11	1	1	0	T	110907762	G	T	110907762	2	4	81	1	0	0	0	0	0	0	0	1	10626	1219	43	5		5	NPHP1	2	110907762	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	841919	110907762	132291611	2079	5695											
BUB1	699	broad.mit.edu	37	2	111398963	111398963	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:111398963G>A	ENST00000535254.1	-	21	2711	c.2644C>T	c.(2644-2646)Ctt>Ttt	p.L882F	BUB1_ENST00000409311.1_Intron|BUB1_ENST00000302759.6_Missense_Mutation_p.L902F|BUB1_ENST00000478175.1_5'UTR	NM_001278616.1	NP_001265545.1	O43683	BUB1_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase	902	Protein kinase.				apoptosis|cell division|chromosome segregation|interspecies interaction between organisms|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|regulation of sister chromatid cohesion	condensed chromosome kinetochore|cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			breast(3)|endometrium(8)|kidney(4)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|stomach(1)	45		Ovarian(717;0.0822)		BRCA - Breast invasive adenocarcinoma(221;0.0556)		ATCATGTAAAGCATTCTCATA	0.373													56	82					0	0	1	0	0	A	111398963	G	A	111398963	3	1	81	1	0	0	0	0	1	0	0	0	1573	971	34	2	569	2	BUB1	2	111398963	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	491201	111398963	131800410	2080	5696											
BUB1	699	broad.mit.edu	37	2	111399019	111399019	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:111399019delT	ENST00000535254.1	-	21	2655	c.2588delA	c.(2587-2589)aatfs	p.N863fs	BUB1_ENST00000409311.1_Intron|BUB1_ENST00000302759.6_Frame_Shift_Del_p.N883fs|BUB1_ENST00000478175.1_5'UTR	NM_001278616.1	NP_001265545.1	O43683	BUB1_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase	883	Protein kinase.				apoptosis|cell division|chromosome segregation|interspecies interaction between organisms|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|regulation of sister chromatid cohesion	condensed chromosome kinetochore|cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			breast(3)|endometrium(8)|kidney(4)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|stomach(1)	45		Ovarian(717;0.0822)		BRCA - Breast invasive adenocarcinoma(221;0.0556)		TTCAGGGGTATTTTTATAGAG	0.378													7	178	---	---	---	---						-	111399019	T	-	111399019	7	5	81	1	0	1	0	1	0	0	0	0	1573	1493	52	0	625	0	BUB1	2	111399019	Frame_Shift_Del	DEL	T	TCGA-DU-6392-01A-11D-1705-08	56	111399019	131800354	2081	5697											
BUB1	699	broad.mit.edu	37	2	111408165	111408165	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:111408165C>A	ENST00000535254.1	-	17	2168	c.2101G>T	c.(2101-2103)Gaa>Taa	p.E701*	BUB1_ENST00000409311.1_Nonsense_Mutation_p.E721*|BUB1_ENST00000302759.6_Nonsense_Mutation_p.E721*	NM_001278616.1	NP_001265545.1	O43683	BUB1_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase	721					apoptosis|cell division|chromosome segregation|interspecies interaction between organisms|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|regulation of sister chromatid cohesion	condensed chromosome kinetochore|cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			breast(3)|endometrium(8)|kidney(4)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|stomach(1)	45		Ovarian(717;0.0822)		BRCA - Breast invasive adenocarcinoma(221;0.0556)		TGCATCCATTCTGCTTGGAGC	0.512													8	29					0.0381472	0.0389402	1	1	0	A	111408165	C	A	111408165	4	1	81	1	0	0	0	0	0	1	0	0	1573	922	32	4	1128	4	BUB1	2	111408165	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	9146	111408165	131791208	2082	5698											
BCL2L11	10018	broad.mit.edu	37	2	111907698	111907698	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:111907698G>A	ENST00000393256.3	+	3	745	c.472G>A	c.(472-474)Gag>Aag	p.E158K	BCL2L11_ENST00000308659.8_Missense_Mutation_p.E98K|BCL2L11_ENST00000393253.2_Missense_Mutation_p.E68K|BCL2L11_ENST00000357757.2_Missense_Mutation_p.E158K	NM_001204106.1|NM_006538.4|NM_138621.4|NM_138627.3	NP_001191035.1|NP_006529.1|NP_619527.1|NP_619533.1	O43521	B2L11_HUMAN	BCL2-like 11 (apoptosis facilitator)	158					activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|nerve growth factor receptor signaling pathway|positive regulation of protein homooligomerization|positive regulation of release of cytochrome c from mitochondria	cytosol|endomembrane system|mitochondrial outer membrane|plasma membrane	protein binding			endometrium(4)|large_intestine(3)|lung(2)|prostate(2)	11						TATTGGAGACGAGTTTAACGC	0.453													3	32					0	0	1	0	0	A	111907698	G	A	111907698	3	1	81	1	0	0	0	0	1	0	0	0	1367	1059	37	1	607	1	BCL2L11	2	111907698	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	499533	111907698	131291675	2083	5699											
MERTK	10461	broad.mit.edu	37	2	112686866	112686866	+	Silent	SNP	C	C	T	rs137909193	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:112686866C>T	ENST00000295408.4	+	2	488	c.231C>T	c.(229-231)aaC>aaT	p.N77N	MERTK_ENST00000421804.2_Silent_p.N77N|MERTK_ENST00000409780.1_Intron			Q12866	MERTK_HUMAN	c-mer proto-oncogene tyrosine kinase	77					cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						ATACAGGAAACGTAGCCATTC	0.507													7	23					0	0	1	0	0	T	112686866	C	T	112686866	2	4	81	1	0	0	0	0	0	0	0	1	9529	535	19	1		1	MERTK	2	112686866	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	779168	112686866	130512507	2084	5700											
TMEM87B	84910	broad.mit.edu	37	2	112834827	112834827	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:112834827C>T	ENST00000283206.4	+	6	929	c.560C>T	c.(559-561)aCg>aTg	p.T187M		NM_032824.2	NP_116213.1	Q96K49	TM87B_HUMAN	transmembrane protein 87B	187						integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)	19						TCTATTAAAACGGAGAATACA	0.318													23	35					0	0	1	0	0	T	112834827	C	T	112834827	3	4	81	1	0	0	0	0	1	0	0	0	16271	536	19	1	582	1	TMEM87B	2	112834827	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	147961	112834827	130364546	2085	5701											
FBLN7	129804	broad.mit.edu	37	2	112942829	112942829	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:112942829G>A	ENST00000331203.2	+	7	1131	c.860G>A	c.(859-861)tGc>tAc	p.C287Y	FBLN7_ENST00000409450.3_Missense_Mutation_p.C241Y|FBLN7_ENST00000409667.3_Missense_Mutation_p.C153Y|FBLN7_ENST00000409903.1_Missense_Mutation_p.C287Y	NM_001128165.1|NM_153214.2	NP_001121637.1|NP_694946.2	Q53RD9	FBLN7_HUMAN	fibulin 7	287	EGF-like 3; calcium-binding (Potential).				cell adhesion	proteinaceous extracellular matrix	calcium ion binding|heparin binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						GGGACCACATGCATCAACACC	0.577													7	87					0	0	1	0	0	A	112942829	G	A	112942829	3	1	81	1	0	0	0	0	1	0	0	0	5734	1319	46	2	886	2	FBLN7	2	112942829	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	108002	112942829	130256544	2086	5702											
FBLN7	129804	broad.mit.edu	37	2	112942849	112942849	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:112942849T>G	ENST00000331203.2	+	7	1151	c.880T>G	c.(880-882)Ttc>Gtc	p.F294V	FBLN7_ENST00000409450.3_Missense_Mutation_p.F248V|FBLN7_ENST00000409667.3_Missense_Mutation_p.F160V|FBLN7_ENST00000409903.1_Missense_Mutation_p.F294V	NM_001128165.1|NM_153214.2	NP_001121637.1|NP_694946.2	Q53RD9	FBLN7_HUMAN	fibulin 7	294	EGF-like 3; calcium-binding (Potential).				cell adhesion	proteinaceous extracellular matrix	calcium ion binding|heparin binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						CGGTGGAAGCTTCCAGTGTGT	0.587													46	38					0	0	1	0	0	G	112942849	T	G	112942849	3	3	81	1	0	0	0	0	1	0	0	0	5734	1609	56	5	906	5	FBLN7	2	112942849	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	20	112942849	130256524	2087	5703											
ZC3H6	376940	broad.mit.edu	37	2	113089840	113089840	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:113089840G>A	ENST00000409871.1	+	12	3746	c.3345G>A	c.(3343-3345)gcG>gcA	p.A1115A	ZC3H6_ENST00000343936.4_Silent_p.A1115A	NM_198581.2	NP_940983.2	P61129	ZC3H6_HUMAN	zinc finger CCCH-type containing 6	1115							nucleic acid binding|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(4)|prostate(2)	35						ACCCACAGGCGGACGTTCCCA	0.527													13	16					0	0	1	0	0	A	113089840	G	A	113089840	2	1	81	1	0	0	0	0	0	0	0	1	17630	1103	39	1		1	ZC3H6	2	113089840	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	146991	113089840	130109533	2088	5704											
POLR1B	84172	broad.mit.edu	37	2	113305097	113305097	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:113305097C>T	ENST00000263331.5	+	3	1025	c.445C>T	c.(445-447)Cgt>Tgt	p.R149C	POLR1B_ENST00000417433.2_Missense_Mutation_p.R93C|POLR1B_ENST00000541869.1_Missense_Mutation_p.R187C|POLR1B_ENST00000537335.1_Intron|POLR1B_ENST00000409894.3_Missense_Mutation_p.R149C	NM_019014.4	NP_061887.2	Q9H9Y6	RPA2_HUMAN	polymerase (RNA) I polypeptide B, 128kDa	149					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding			breast(3)|endometrium(9)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42						TTGCAACTTACGTAACCTTCC	0.493													8	62					0	0	1	0	0	T	113305097	C	T	113305097	3	4	81	1	0	0	0	0	1	0	0	0	12258	536	19	1	455	1	POLR1B	2	113305097	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	215257	113305097	129894276	2089	5705											
POLR1B	84172	broad.mit.edu	37	2	113326460	113326460	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:113326460C>T	ENST00000263331.5	+	12	2635	c.2055C>T	c.(2053-2055)aaC>aaT	p.N685N	POLR1B_ENST00000417433.2_Silent_p.N629N|POLR1B_ENST00000541869.1_Silent_p.N723N|POLR1B_ENST00000537335.1_Silent_p.N474N|POLR1B_ENST00000409894.3_Silent_p.N502N	NM_019014.4	NP_061887.2	Q9H9Y6	RPA2_HUMAN	polymerase (RNA) I polypeptide B, 128kDa	685					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding			breast(3)|endometrium(9)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42						GTCCACGGAACATGTACCAAT	0.443													5	27					0	0	1	0	0	T	113326460	C	T	113326460	2	4	81	1	0	0	0	0	0	0	0	1	12258	477	17	2		2	POLR1B	2	113326460	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	21363	113326460	129872913	2090	5706	21	2									
POLR1B	84172	broad.mit.edu	37	2	113326468	113326468	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:113326468A>G	ENST00000263331.5	+	12	2643	c.2063A>G	c.(2062-2064)cAa>cGa	p.Q688R	POLR1B_ENST00000417433.2_Missense_Mutation_p.Q632R|POLR1B_ENST00000541869.1_Missense_Mutation_p.Q726R|POLR1B_ENST00000537335.1_Missense_Mutation_p.Q477R|POLR1B_ENST00000409894.3_Missense_Mutation_p.Q505R	NM_019014.4	NP_061887.2	Q9H9Y6	RPA2_HUMAN	polymerase (RNA) I polypeptide B, 128kDa	688					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding			breast(3)|endometrium(9)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42						AACATGTACCAATGCCAGATG	0.438													3	27					0	0	1	0	0	G	113326468	A	G	113326468	3	3	81	1	0	0	0	0	1	0	0	0	12258	130	5	3	2109	3	POLR1B	2	113326468	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	8	113326468	129872905	2091	5707	21	2									
CHCHD5	84269	broad.mit.edu	37	2	113343849	113343849	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:113343849C>T	ENST00000409719.1	+	3	269	c.216C>T	c.(214-216)aaC>aaT	p.N72N	CHCHD5_ENST00000489052.1_3'UTR|CHCHD5_ENST00000324913.5_Silent_p.N72N			Q9BSY4	CHCH5_HUMAN	coiled-coil-helix-coiled-coil-helix domain containing 5	72	CHCH.									NS(1)|endometrium(1)|large_intestine(4)|urinary_tract(1)	7						TTCGACAGAACGAGGCAGCTG	0.622													22	31					0	0	1	0	0	T	113343849	C	T	113343849	2	4	81	1	0	0	0	0	0	0	0	1	3341	535	19	1		1	CHCHD5	2	113343849	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	17381	113343849	129855524	2092	5708											
CHCHD5	84269	broad.mit.edu	37	2	113343902	113343902	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:113343902C>T	ENST00000409719.1	+	3	322	c.269C>T	c.(268-270)gCt>gTt	p.A90V	CHCHD5_ENST00000489052.1_3'UTR|CHCHD5_ENST00000324913.5_Missense_Mutation_p.A90V			Q9BSY4	CHCH5_HUMAN	coiled-coil-helix-coiled-coil-helix domain containing 5	90	CHCH.									NS(1)|endometrium(1)|large_intestine(4)|urinary_tract(1)	7						CTGCAGTGCGCTGAGCAGGTG	0.577													12	26					0	0	1	0	0	T	113343902	C	T	113343902	3	4	81	1	0	0	0	0	1	0	0	0	3341	797	28	2	279	2	CHCHD5	2	113343902	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	53	113343902	129855471	2093	5709											
SLC20A1	6574	broad.mit.edu	37	2	113420496	113420496	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:113420496G>A	ENST00000272542.3	+	11	2473	c.1934G>A	c.(1933-1935)cGt>cAt	p.R645H		NM_005415.4	NP_005406.3	Q8WUM9	S20A1_HUMAN	solute carrier family 20 (phosphate transporter), member 1	645					phosphate metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to plasma membrane	inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|skin(1)|urinary_tract(3)	28						GTTGACTGGCGTCTCTTTCGT	0.483													30	50					0	0	1	0	0	A	113420496	G	A	113420496	3	1	81	1	0	0	0	0	1	0	0	0	14493	1145	40	1	1972	1	SLC20A1	2	113420496	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	76594	113420496	129778877	2094	5710											
CKAP2L	150468	broad.mit.edu	37	2	113496489	113496489	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:113496489G>T	ENST00000541405.1	-	9	2177	c.1654C>A	c.(1654-1656)Ctg>Atg	p.L552M	NT5DC4_ENST00000327581.4_Intron|CKAP2L_ENST00000302450.6_Missense_Mutation_p.L717M			Q8IYA6	CKP2L_HUMAN	cytoskeleton associated protein 2-like	717						centrosome				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	28						ACTTCTAACAGTTCATCAAGA	0.448													53	89					2.0833e-19	2.71305e-19	1	1	0	T	113496489	G	T	113496489	3	4	81	1	0	0	0	0	1	0	0	0	3466	1020	36	4	92	4	CKAP2L	2	113496489	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	75993	113496489	129702884	2095	5711											
CKAP2L	150468	broad.mit.edu	37	2	113514748	113514748	+	Translation_Start_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:113514748G>T	ENST00000541405.1	-	0	228				CKAP2L_ENST00000302450.6_Missense_Mutation_p.P67H|CKAP2L_ENST00000481732.1_Intron			Q8IYA6	CKP2L_HUMAN	cytoskeleton associated protein 2-like							centrosome				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	28						AGGTTTGACAGGCAAAACAAC	0.383													12	171					9.05144e-12	1.12483e-11	1	1	0	T	113514748	G	T	113514748	1	4	81	1	0	0	0	0	0	0	0	0	3466	1000	35	4		4	CKAP2L	2	113514748	Translation_Start_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	18259	113514748	129684625	2096	5712											
IL1B	3553	broad.mit.edu	37	2	113590400	113590400	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:113590400G>T	ENST00000263341.2	-	5	515	c.305C>A	c.(304-306)cCt>cAt	p.P102H	IL1B_ENST00000491056.1_5'UTR	NM_000576.2	NP_000567.1	P01584	IL1B_HUMAN	interleukin 1, beta	102					activation of MAPK activity|anti-apoptosis|apoptosis|cell-cell signaling|cellular response to drug|cellular response to mechanical stimulus|cytokine-mediated signaling pathway|embryo implantation|fever generation|negative regulation of adiponectin secretion|negative regulation of cell proliferation|negative regulation of glucose transport|negative regulation of insulin receptor signaling pathway|negative regulation of lipid catabolic process|negative regulation of MAP kinase activity|positive regulation of angiogenesis|positive regulation of calcidiol 1-monooxygenase activity|positive regulation of cell adhesion molecule production|positive regulation of cell division|positive regulation of fever generation|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of heterotypic cell-cell adhesion|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of interferon-gamma production|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of lipid catabolic process|positive regulation of membrane protein ectodomain proteolysis|positive regulation of mitosis|positive regulation of monocyte chemotactic protein-1 production|positive regulation of myosin light chain kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric oxide biosynthetic process|positive regulation of prostaglandin secretion|positive regulation of protein export from nucleus|positive regulation of T cell proliferation|positive regulation vascular endothelial growth factor production|regulation of insulin secretion|sequestering of triglyceride|smooth muscle adaptation	cytosol|extracellular space	cytokine activity|growth factor activity|interleukin-1 receptor binding|protein domain specific binding			breast(2)|central_nervous_system(1)|large_intestine(1)|lung(8)	12					Anakinra(DB00026)|Minocycline(DB01017)|Procaterol(DB01366)	GAAGAAGATAGGTTCTGAAAT	0.493													5	52					0.184627	0.18622	1	1	0	T	113590400	G	T	113590400	3	4	81	1	0	0	0	0	1	0	0	0	7695	1000	35	4	516	4	IL1B	2	113590400	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	75652	113590400	129608973	2097	5713											
IL1F10	84639	broad.mit.edu	37	2	113831905	113831905	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:113831905G>A	ENST00000393197.2	+	2	453		c.e2-1		IL1F10_ENST00000337569.3_Intron|IL1F10_ENST00000341010.2_Splice_Site	NM_032556.5	NP_115945.4	Q8WWZ1	IL1FA_HUMAN	interleukin 1 family, member 10 (theta)							extracellular space	cytokine activity|interleukin-1 receptor antagonist activity			endometrium(1)|lung(6)|ovary(1)	8						TACTGTTTCAGAATTAAATAT	0.517													7	20					0	0	1	0	0	A	113831905	G	A	113831905	5	1	81	1	0	0	0	0	0	0	1	0	7696	956	33	2	38	2	IL1F10	2	113831905	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	241505	113831905	129367468	2098	5714											
IL1F10	84639	broad.mit.edu	37	2	113832239	113832239	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:113832239G>A	ENST00000337569.3	+	3	133	c.58G>A	c.(58-60)Gcc>Acc	p.A20T	IL1F10_ENST00000393197.2_Intron|IL1F10_ENST00000341010.2_Intron			Q8WWZ1	IL1FA_HUMAN	interleukin 1 family, member 10 (theta)	20						extracellular space	cytokine activity|interleukin-1 receptor antagonist activity			endometrium(1)|lung(6)|ovary(1)	8						GCCTTTACCTGCCAAGAGCCT	0.572													14	127					0	0	1	0	0	A	113832239	G	A	113832239	3	1	81	1	0	0	0	0	1	0	0	0	7696	1334	46	2		2	IL1F10	2	113832239	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	334	113832239	129367134	2099	5715											
PAX8	7849	broad.mit.edu	37	2	113993142	113993142	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:113993142C>T	ENST00000429538.3	-	9	1110	c.916G>A	c.(916-918)Gcc>Acc	p.A306T	PAX8_ENST00000348715.5_Intron|AC016683.6_ENST00000553869.2_RNA|AC016683.6_ENST00000333145.5_RNA|PAX8_ENST00000397647.3_Intron|AC016683.6_ENST00000422956.2_RNA|AC016683.6_ENST00000431844.2_RNA|PAX8_ENST00000263334.5_Intron|PAX8_ENST00000263335.7_Intron|AC016683.6_ENST00000451179.1_RNA|AC016683.6_ENST00000437551.1_RNA|AC016683.6_ENST00000456685.1_RNA|AC016683.6_ENST00000556070.1_RNA	NM_003466.3	NP_003457.1	Q06710	PAX8_HUMAN	paired box 8	306					branching involved in ureteric bud morphogenesis|cellular response to gonadotropin stimulus|central nervous system development|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesonephros development|metanephric collecting duct development|metanephric comma-shaped body morphogenesis|metanephric distal convoluted tubule development|metanephric nephron tubule formation|metanephric S-shaped body morphogenesis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|otic vesicle development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric field specification|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of thyroid-stimulating hormone secretion|thyroid gland development|transcription, DNA-dependent	nucleoplasm	protein binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|thyroid-stimulating hormone receptor activity		PAX8/PPARG(117)	breast(1)|endometrium(4)|kidney(2)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|skin(1)	20						TGCTTTATGGCGAAGGGTGAG	0.592			T	PPARG	follicular thyroid		Thyroid dysgenesis						8	19					0	0	1	0	0	T	113993142	C	T	113993142	3	4	81	1	0	0	0	0	1	0	0	0	11532	768	27	1	452	1	PAX8	2	113993142	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	160903	113993142	129206231	2100	5716											
RABL2A	11159	broad.mit.edu	37	2	114399652	114399652	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:114399652A>G	ENST00000409875.1	+	10	965	c.663A>G	c.(661-663)gaA>gaG	p.E221E	RABL2A_ENST00000393166.3_Silent_p.E211E|RABL2A_ENST00000409842.1_Silent_p.E148E|RABL2A_ENST00000376439.3_Silent_p.E148E|RABL2A_ENST00000393165.3_Silent_p.E212E|RABL2A_ENST00000478880.1_3'UTR|RABL2A_ENST00000393167.3_Silent_p.E211E			Q9UBK7	RBL2A_HUMAN	RAB, member of RAS oncogene family-like 2A	211					small GTPase mediated signal transduction		GTP binding|GTPase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|stomach(3)	9						CAGACCAGGAACAGAGCAGCA	0.602													15	21					0	0	1	0	0	G	114399652	A	G	114399652	2	3	81	1	0	0	0	0	0	0	0	1	13022	40	2	3		3	RABL2A	2	114399652	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	406510	114399652	128799721	2101	5717											
SLC35F5	80255	broad.mit.edu	37	2	114508144	114508144	+	Splice_Site	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:114508144T>C	ENST00000245680.2	-	4	688	c.275A>G	c.(274-276)tAt>tGt	p.Y92C	SLC35F5_ENST00000409342.1_Splice_Site_p.Y86C	NM_025181.2	NP_079457.2	Q8WV83	S35F5_HUMAN	solute carrier family 35, member F5	92					transport	integral to membrane				endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|ovary(2)|prostate(3)|skin(1)	20						GGTAAAAACATACTGTAGAGG	0.343													30	30					0	0	1	0	0	C	114508144	T	C	114508144	5	2	81	1	0	0	0	0	0	0	1	0	14647	1420	49	3	1344	3	SLC35F5	2	114508144	Splice_Site	SNP	T	TCGA-DU-6392-01A-11D-1705-08	108492	114508144	128691229	2102	5718											
ACTR3	10096	broad.mit.edu	37	2	114691959	114691959	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:114691959C>A	ENST00000263238.2	+	6	856	c.536C>A	c.(535-537)cCt>cAt	p.P179H	ACTR3_ENST00000536059.1_Missense_Mutation_p.P117H|ACTR3_ENST00000535589.2_Missense_Mutation_p.P128H	NM_001277140.1|NM_005721.3	NP_001264069.1|NP_005712.1	P61158	ARP3_HUMAN	ARP3 actin-related protein 3 homolog (yeast)	179					cellular component movement|cilium morphogenesis	Arp2/3 protein complex	actin binding|ATP binding			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(2)	15						CATGTCATTCCTGTGGTAAGG	0.378													8	140					1.26484e-09	1.5311e-09	1	1	0	A	114691959	C	A	114691959	3	1	81	1	0	0	0	0	1	0	0	0	212	681	24	4	558	4	ACTR3	2	114691959	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	183815	114691959	128507414	2103	5719											
DDX18	8886	broad.mit.edu	37	2	118577331	118577331	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:118577331T>C	ENST00000263239.2	+	3	605	c.477T>C	c.(475-477)gaT>gaC	p.D159D	DDX18_ENST00000474694.1_3'UTR	NM_006773.3	NP_006764.3	Q9NVP1	DDX18_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 18	159							ATP binding|ATP-dependent RNA helicase activity|RNA binding			breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						ATGATGAAGATGAGAGTGAGG	0.403											OREG0003814	type=REGULATORY REGION|Gene=DDX18|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	15	21					0	0	1	0	0	C	118577331	T	C	118577331	2	2	81	1	0	0	0	0	0	0	0	1	4368	1461	51	3		3	DDX18	2	118577331	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	3885372	118577331	124622042	2104	5720											
EN1	2019	broad.mit.edu	37	2	119600595	119600595	+	Silent	SNP	G	G	A	rs139806570		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:119600595G>A	ENST00000295206.6	-	2	1608	c.1098C>T	c.(1096-1098)aaC>aaT	p.N366N		NM_001426.3	NP_001417.3	Q05925	HME1_HUMAN	engrailed homeobox 1	366					skeletal system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	9						GCGCCAGGCCGTTCTTGATGC	0.617													19	17					0	0	1	0	0	A	119600595	G	A	119600595	2	1	81	1	0	0	0	0	0	0	0	1	5137	1136	40	1		1	EN1	2	119600595	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1023264	119600595	123598778	2105	5721											
STEAP3	55240	broad.mit.edu	37	2	120005430	120005430	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:120005430T>A	ENST00000354888.5	+	4	1172	c.668T>A	c.(667-669)tTc>tAc	p.F223Y	STEAP3_ENST00000393110.2_Missense_Mutation_p.F233Y|STEAP3_ENST00000393108.2_Missense_Mutation_p.F223Y|STEAP3_ENST00000409811.1_Missense_Mutation_p.F223Y|STEAP3_ENST00000450943.2_Missense_Mutation_p.F223Y|STEAP3_ENST00000393106.2_Missense_Mutation_p.F223Y|STEAP3-AS1_ENST00000454260.1_RNA|STEAP3_ENST00000425223.2_Missense_Mutation_p.F223Y|STEAP3_ENST00000393107.2_Missense_Mutation_p.F223Y	NM_182915.2	NP_878919.2	Q658P3	STEA3_HUMAN	STEAP family member 3, metalloreductase	223					apoptosis|cell cycle|cellular iron ion homeostasis|protein secretion|transferrin transport|transmembrane transport	endosome membrane|integral to membrane|multivesicular body	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	17						CTGGGGCTCTTCGTCTGCTTC	0.632													25	22					0	0	1	0	0	A	120005430	T	A	120005430	3	1	81	1	0	0	0	0	1	0	0	0	15335	1783	62	5	708	5	STEAP3	2	120005430	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	404835	120005430	123193943	2106	5722											
TMEM177	80775	broad.mit.edu	37	2	120438559	120438559	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:120438559T>C	ENST00000424086.1	+	2	603	c.130T>C	c.(130-132)Tgg>Cgg	p.W44R	TMEM177_ENST00000496203.1_Intron|TMEM177_ENST00000272521.6_Missense_Mutation_p.W44R|TMEM177_ENST00000409951.1_Missense_Mutation_p.W44R|TMEM177_ENST00000401466.1_Missense_Mutation_p.W44R	NM_001105198.1	NP_001098668.1	Q53S58	TM177_HUMAN	transmembrane protein 177	44						integral to membrane				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	13	Colorectal(110;0.196)					CGTGGTCCAATGGCTCTACCA	0.582													9	105					0	0	1	0	0	C	120438559	T	C	120438559	3	2	81	1	0	0	0	0	1	0	0	0	16154	1464	51	3	132	3	TMEM177	2	120438559	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	433129	120438559	122760814	2107	5723											
PTPN4	5775	broad.mit.edu	37	2	120690017	120690017	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:120690017T>C	ENST00000263708.2	+	14	1859	c.1088T>C	c.(1087-1089)tTg>tCg	p.L363S	PTPN4_ENST00000544261.1_5'UTR	NM_002830.3	NP_002821.1	P29074	PTN4_HUMAN	protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte)	363						cytoplasm|cytoskeleton|internal side of plasma membrane	cytoskeletal protein binding|non-membrane spanning protein tyrosine phosphatase activity			endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|urinary_tract(1)	30					Alendronate(DB00630)	AGTAAGCCCTTGGCACGGAAA	0.353													3	31					0	0	1	0	0	C	120690017	T	C	120690017	3	2	81	1	0	0	0	0	1	0	0	0	12842	1821	63	3	1138	3	PTPN4	2	120690017	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	251458	120690017	122509356	2108	5724											
EPB41L5	57669	broad.mit.edu	37	2	120799600	120799600	+	Nonsense_Mutation	SNP	G	G	T	rs142458983		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:120799600G>T	ENST00000263713.5	+	3	413	c.199G>T	c.(199-201)Gag>Tag	p.E67*	EPB41L5_ENST00000452780.1_Nonsense_Mutation_p.E67*|EPB41L5_ENST00000443902.2_Nonsense_Mutation_p.E67*|EPB41L5_ENST00000443124.1_Nonsense_Mutation_p.E67*|EPB41L5_ENST00000331393.4_Nonsense_Mutation_p.E67*	NM_020909.3	NP_065960.2	Q9HCM4	E41L5_HUMAN	erythrocyte membrane protein band 4.1 like 5	67	FERM.					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(5)|lung(12)|ovary(1)	26						CAAAGGACAAGAGTTGTTTGA	0.348													6	98					3.59834e-05	3.99423e-05	1	1	0	T	120799600	G	T	120799600	4	4	81	1	0	0	0	0	0	1	0	0	5185	943	33	4	205	4	EPB41L5	2	120799600	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	109583	120799600	122399773	2109	5725											
EPB41L5	57669	broad.mit.edu	37	2	120834640	120834640	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:120834640C>T	ENST00000263713.5	+	8	813	c.599C>T	c.(598-600)gCt>gTt	p.A200V	EPB41L5_ENST00000452780.1_Missense_Mutation_p.A200V|EPB41L5_ENST00000443902.2_Missense_Mutation_p.A200V|EPB41L5_ENST00000443124.1_Missense_Mutation_p.A200V|EPB41L5_ENST00000331393.4_Missense_Mutation_p.A200V	NM_020909.3	NP_065960.2	Q9HCM4	E41L5_HUMAN	erythrocyte membrane protein band 4.1 like 5	200	FERM.					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(5)|lung(12)|ovary(1)	26						ATGGAACTGGCTATTTTTGAG	0.373													16	155					0	0	1	0	0	T	120834640	C	T	120834640	3	4	81	1	0	0	0	0	1	0	0	0	5185	797	28	2	625	2	EPB41L5	2	120834640	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	35040	120834640	122364733	2110	5726											
EPB41L5	57669	broad.mit.edu	37	2	120889207	120889207	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:120889207C>A	ENST00000263713.5	+	18	1729	c.1515C>A	c.(1513-1515)acC>acA	p.T505T	EPB41L5_ENST00000452780.1_Silent_p.T505T|EPB41L5_ENST00000443902.2_Silent_p.T505T	NM_020909.3	NP_065960.2	Q9HCM4	E41L5_HUMAN	erythrocyte membrane protein band 4.1 like 5	505						cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(5)|lung(12)|ovary(1)	26						TAAAAGACACCTCAGAGAAGC	0.438													15	38					5.35267e-07	6.21096e-07	1	1	0	A	120889207	C	A	120889207	2	1	81	1	0	0	0	0	0	0	0	1	5185	668	24	4		4	EPB41L5	2	120889207	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	54567	120889207	122310166	2111	5727											
INHBB	3625	broad.mit.edu	37	2	121106699	121106699	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:121106699G>A	ENST00000295228.3	+	2	519	c.473G>A	c.(472-474)cGc>cAc	p.R158H		NM_002193.2	NP_002184.2	P09529	INHBB_HUMAN	inhibin, beta B	158					activin receptor signaling pathway|cellular response to insulin stimulus|cellular response to starvation|defense response|fat cell differentiation|growth|negative regulation of follicle-stimulating hormone secretion|negative regulation of hepatocyte growth factor biosynthetic process|negative regulation of insulin secretion|ovarian follicle development|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation	extracellular region|perinuclear region of cytoplasm	cytokine activity|growth factor activity|hormone activity|host cell surface receptor binding|protein homodimerization activity			NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(4)|pancreas(2)|skin(2)	15		Prostate(154;0.122)				TCCCGGGTCCGCCTATACTTC	0.557													21	39					0	0	1	0	0	A	121106699	G	A	121106699	3	1	81	1	0	0	0	0	1	0	0	0	7786	1087	38	1	479	1	INHBB	2	121106699	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	217492	121106699	122092674	2112	5728											
GLI2	2736	broad.mit.edu	37	2	121746916	121746916	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:121746916G>A	ENST00000452319.1	+	14	3486	c.3426G>A	c.(3424-3426)atG>atA	p.M1142I	GLI2_ENST00000314490.11_Missense_Mutation_p.M814I|GLI2_ENST00000361492.4_Missense_Mutation_p.M1142I			P10070	GLI2_HUMAN	GLI family zinc finger 2	1142					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				AAAATAACATGCCTGTGCAGT	0.637													7	17					0	0	1	0	0	A	121746916	G	A	121746916	3	1	81	1	0	0	0	0	1	0	0	0	6480	1319	46	2	3476	2	GLI2	2	121746916	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	640217	121746916	121452457	2113	5729											
TFCP2L1	29842	broad.mit.edu	37	2	121995414	121995414	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:121995414C>T	ENST00000263707.5	-	9	970	c.873G>A	c.(871-873)ccG>ccA	p.P291P		NM_014553.2	NP_055368.1	Q9NZI6	TF2L1_HUMAN	transcription factor CP2-like 1	291					female pregnancy|steroid biosynthetic process	mitochondrion|nucleolus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1)|pancreas(2)|skin(1)|stomach(1)	22	Renal(3;0.01)					CCGGGTGGGTCGGAGAGGCGT	0.637													12	21					0	0	1	0	0	T	121995414	C	T	121995414	2	4	81	1	0	0	0	0	0	0	0	1	15856	871	31	1		1	TFCP2L1	2	121995414	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	248498	121995414	121203959	2114	5730											
CLASP1	23332	broad.mit.edu	37	2	122106112	122106112	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:122106112G>A	ENST00000263710.4	-	38	4778	c.4389C>T	c.(4387-4389)gtC>gtT	p.V1463V	CLASP1_ENST00000455322.2_Silent_p.V1419V|CLASP1_ENST00000545861.1_Silent_p.V1170V|CLASP1_ENST00000397587.3_Silent_p.V1403V|CLASP1_ENST00000409078.3_Silent_p.V1396V|CLASP1_ENST00000541859.1_Silent_p.V1180V|CLASP1_ENST00000541377.1_Silent_p.V1402V	NM_015282.2	NP_056097.1	Q7Z460	CLAP1_HUMAN	cytoplasmic linker associated protein 1	1463	Interaction with CLIP2 (By similarity).|Interaction with PHLDB2 and RSN.|Localization to kinetochores.				axon guidance|cell division|establishment or maintenance of cell polarity|exit from mitosis|G2/M transition of mitotic cell cycle|microtubule anchoring|microtubule bundle formation|microtubule nucleation|microtubule organizing center organization|mitotic prometaphase|negative regulation of microtubule depolymerization	centrosomal corona|condensed chromosome kinetochore|cortical microtubule cytoskeleton|cytoplasmic microtubule|cytosol|Golgi apparatus|kinetochore microtubule	kinetochore binding|microtubule plus-end binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)	47	Renal(3;0.0496)					GGATGATGTCGACAAGGAGCT	0.567													8	9					0	0	1	0	0	A	122106112	G	A	122106112	2	1	81	1	0	0	0	0	0	0	0	1	3477	1045	37	1		1	CLASP1	2	122106112	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	110698	122106112	121093261	2115	5731											
CLASP1	23332	broad.mit.edu	37	2	122125203	122125203	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:122125203C>A	ENST00000263710.4	-	35	4236	c.3847G>T	c.(3847-3849)Gag>Tag	p.E1283*	CLASP1_ENST00000455322.2_Nonsense_Mutation_p.E1239*|CLASP1_ENST00000545861.1_Nonsense_Mutation_p.E990*|CLASP1_ENST00000397587.3_Nonsense_Mutation_p.E1223*|CLASP1_ENST00000409078.3_Nonsense_Mutation_p.E1216*|CLASP1_ENST00000541859.1_Nonsense_Mutation_p.E1000*|CLASP1_ENST00000541377.1_Nonsense_Mutation_p.E1222*	NM_015282.2	NP_056097.1	Q7Z460	CLAP1_HUMAN	cytoplasmic linker associated protein 1	1283	Interaction with CLIP2 (By similarity).|Interaction with PHLDB2 and RSN.|Localization to kinetochores.				axon guidance|cell division|establishment or maintenance of cell polarity|exit from mitosis|G2/M transition of mitotic cell cycle|microtubule anchoring|microtubule bundle formation|microtubule nucleation|microtubule organizing center organization|mitotic prometaphase|negative regulation of microtubule depolymerization	centrosomal corona|condensed chromosome kinetochore|cortical microtubule cytoskeleton|cytoplasmic microtubule|cytosol|Golgi apparatus|kinetochore microtubule	kinetochore binding|microtubule plus-end binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)	47	Renal(3;0.0496)					AACACAGCCTCTTTCAGGGCG	0.607													28	40					1.50538e-07	1.76314e-07	1	1	0	A	122125203	C	A	122125203	4	1	81	1	0	0	0	0	0	1	0	0	3477	922	32	4	793	4	CLASP1	2	122125203	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	19091	122125203	121074170	2116	5732											
CLASP1	23332	broad.mit.edu	37	2	122273251	122273251	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:122273251G>A	ENST00000263710.4	-	7	1023	c.634C>T	c.(634-636)Cca>Tca	p.P212S	CLASP1_ENST00000455322.2_Missense_Mutation_p.P212S|CLASP1_ENST00000397587.3_Missense_Mutation_p.P212S|CLASP1_ENST00000409078.3_Missense_Mutation_p.P212S|CLASP1_ENST00000541377.1_Missense_Mutation_p.P212S	NM_015282.2	NP_056097.1	Q7Z460	CLAP1_HUMAN	cytoplasmic linker associated protein 1	212					axon guidance|cell division|establishment or maintenance of cell polarity|exit from mitosis|G2/M transition of mitotic cell cycle|microtubule anchoring|microtubule bundle formation|microtubule nucleation|microtubule organizing center organization|mitotic prometaphase|negative regulation of microtubule depolymerization	centrosomal corona|condensed chromosome kinetochore|cortical microtubule cytoskeleton|cytoplasmic microtubule|cytosol|Golgi apparatus|kinetochore microtubule	kinetochore binding|microtubule plus-end binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)	47	Renal(3;0.0496)					CGGGACTGTGGCAATCCTTTT	0.423													3	25					0	0	1	0	0	A	122273251	G	A	122273251	3	1	81	1	0	0	0	0	1	0	0	0	3477	1203	42	2	4170	2	CLASP1	2	122273251	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	148048	122273251	120926122	2117	5733											
CLASP1	23332	broad.mit.edu	37	2	122285375	122285375	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:122285375G>A	ENST00000263710.4	-	5	859	c.470C>T	c.(469-471)gCc>gTc	p.A157V	CLASP1_ENST00000455322.2_Splice_Site_p.A157V|CLASP1_ENST00000397587.3_Splice_Site_p.A157V|CLASP1_ENST00000409078.3_Splice_Site_p.A157V|CLASP1_ENST00000541377.1_Splice_Site_p.A157V	NM_015282.2	NP_056097.1	Q7Z460	CLAP1_HUMAN	cytoplasmic linker associated protein 1	157					axon guidance|cell division|establishment or maintenance of cell polarity|exit from mitosis|G2/M transition of mitotic cell cycle|microtubule anchoring|microtubule bundle formation|microtubule nucleation|microtubule organizing center organization|mitotic prometaphase|negative regulation of microtubule depolymerization	centrosomal corona|condensed chromosome kinetochore|cortical microtubule cytoskeleton|cytoplasmic microtubule|cytosol|Golgi apparatus|kinetochore microtubule	kinetochore binding|microtubule plus-end binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)	47	Renal(3;0.0496)					CCAGACTTACGCATTGAGTGT	0.383													11	23					0	0	1	0	0	A	122285375	G	A	122285375	5	1	81	1	0	0	0	0	0	0	1	0	3477	1101	38	1	4342	1	CLASP1	2	122285375	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	12124	122285375	120913998	2118	5734											
TSN	7247	broad.mit.edu	37	2	122522801	122522801	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:122522801G>A	ENST00000389682.3	+	6	792	c.545G>A	c.(544-546)cGc>cAc	p.R182H	TSN_ENST00000498545.1_3'UTR|TSN_ENST00000409193.1_Missense_Mutation_p.R177H|TSN_ENST00000536142.1_3'UTR	NM_001261401.1|NM_004622.2	NP_001248330.1|NP_004613.1	Q15631	TSN_HUMAN	translin	182	Leucine-zipper (Potential).				DNA recombination	cytoplasm|nucleus	sequence-specific DNA binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|large_intestine(1)|liver(1)|lung(3)|skin(1)	12		Ovarian(717;0.0563)|Prostate(154;0.116)				TCCGGTTTTCGCCTTCTCAAC	0.512													95	141					0	0	1	0	0	A	122522801	G	A	122522801	3	1	81	1	0	0	0	0	1	0	0	0	16690	1087	38	1	567	1	TSN	2	122522801	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	237426	122522801	120676572	2119	5735											
BIN1	274	broad.mit.edu	37	2	127825747	127825747	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:127825747G>A	ENST00000316724.5	-	7	1015	c.604C>T	c.(604-606)Cga>Tga	p.R202*	BIN1_ENST00000348750.4_Intron|BIN1_ENST00000357970.3_Nonsense_Mutation_p.R202*|BIN1_ENST00000409400.1_Intron|BIN1_ENST00000351659.3_Nonsense_Mutation_p.R202*|BIN1_ENST00000393041.3_Intron|BIN1_ENST00000259238.4_Intron|BIN1_ENST00000393040.3_Intron|BIN1_ENST00000346226.3_Intron|BIN1_ENST00000352848.3_Intron|BIN1_ENST00000376113.2_Intron	NM_139343.2	NP_647593.1	O00499	BIN1_HUMAN	bridging integrator 1	202	BAR.				cell proliferation|endocytosis|interspecies interaction between organisms|multicellular organismal development	actin cytoskeleton|nucleus				NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(3)|skin(3)	24	Colorectal(110;0.0831)			BRCA - Breast invasive adenocarcinoma(221;0.073)		ACCTGATTTCGGAGCAGGTTA	0.612											OREG0014963	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	7					0	0	1	0	0	A	127825747	G	A	127825747	4	1	81	1	0	0	0	0	0	1	0	0	1431	1124	39	1	1278	1	BIN1	2	127825747	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	5302946	127825747	115373626	2120	5736											
CYP27C1	339761	broad.mit.edu	37	2	127944866	127944866	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:127944866C>T	ENST00000335247.7	-	8	1230	c.1100G>A	c.(1099-1101)cGa>cAa	p.R367Q	CYP27C1_ENST00000409327.1_Missense_Mutation_p.R367Q	NM_001001665.3	NP_001001665.3	Q4G0S4	C27C1_HUMAN	cytochrome P450, family 27, subfamily C, polypeptide 1	367						membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)	16	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.071)		GTTAACAAATCGCACGTGGAT	0.493													33	37					0	0	1	0	0	T	127944866	C	T	127944866	3	4	81	1	0	0	0	0	1	0	0	0	4183	884	31	1	22	1	CYP27C1	2	127944866	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	119119	127944866	115254507	2121	5737											
CYP27C1	339761	broad.mit.edu	37	2	127944964	127944964	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:127944964C>A	ENST00000335247.7	-	8	1133		c.e8-1		CYP27C1_ENST00000409327.1_Splice_Site	NM_001001665.3	NP_001001665.3	Q4G0S4	C27C1_HUMAN	cytochrome P450, family 27, subfamily C, polypeptide 1							membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)	16	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.071)		GTTGAAGCAACTAAGAAGAGA	0.498													18	29					6.94344e-10	8.44171e-10	1	1	0	A	127944964	C	A	127944964	5	1	81	1	0	0	0	0	0	0	1	0	4183	579	20	4	120	4	CYP27C1	2	127944964	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	98	127944964	115254409	2122	5738											
ERCC3	2071	broad.mit.edu	37	2	128016959	128016959	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:128016959C>A	ENST00000493187.2	-	14	2401	c.1938G>T	c.(1936-1938)caG>caT	p.Q646H	ERCC3_ENST00000285398.2_Missense_Mutation_p.Q710H			P19447	ERCC3_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 3	710	Helicase C-terminal.				cell cycle checkpoint|DNA topological change|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA duplex unwinding|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein localization|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	3'-5' DNA helicase activity|ATP binding|damaged DNA binding|protein C-terminus binding|protein N-terminus binding|transcription factor binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	31	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.073)		GTAAGAGCTGCTGTTGCTCTT	0.552			"Mis, S"			"skin basal cell, skin squamous cell, melanoma"		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				28	41					2.4375e-19	3.17295e-19	1	1	0	A	128016959	C	A	128016959	3	1	81	1	0	0	0	0	1	0	0	0	5242	796	28	4	226	4	ERCC3	2	128016959	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	71995	128016959	115182414	2123	5739											
MAP3K2	10746	broad.mit.edu	37	2	128072388	128072388	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:128072388C>T	ENST00000409947.1	-	15	1680	c.1398G>A	c.(1396-1398)caG>caA	p.Q466Q	MAP3K2_ENST00000344908.5_Silent_p.Q466Q			Q9Y2U5	M3K2_HUMAN	mitogen-activated protein kinase kinase kinase 2	466	Protein kinase.				activation of JUN kinase activity|cellular response to mechanical stimulus	nucleus	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein kinase binding			central_nervous_system(1)|large_intestine(1)|lung(3)|ovary(2)	7	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0706)		CCTCCAGAATCTGACGGGTGT	0.343													7	15					0	0	1	0	0	T	128072388	C	T	128072388	2	4	81	1	0	0	0	0	0	0	0	1	9300	912	32	2		2	MAP3K2	2	128072388	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	55429	128072388	115126985	2124	5740											
PROC	5624	broad.mit.edu	37	2	128183683	128183683	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:128183683C>A	ENST00000453608.2	+	6	731	c.723C>A	c.(721-723)ccC>ccA	p.P241P	PROC_ENST00000422777.3_Silent_p.P186P|PROC_ENST00000409048.1_Silent_p.P220P|PROC_ENST00000234071.3_Silent_p.P186P			P04070	PROC_HUMAN	protein C (inactivator of coagulation factors Va and VIIIa)	186	Peptidase S1.				blood coagulation|leukocyte migration|negative regulation of apoptosis|negative regulation of blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|Golgi lumen|plasma membrane	calcium ion binding|protein binding|serine-type endopeptidase activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0673)	Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)|Sodium Tetradecyl Sulfate(DB00464)	GTGGGAGGCCCTGGAAGCGGA	0.592													11	35					0.105934	0.107844	1	1	0	A	128183683	C	A	128183683	2	1	81	1	0	0	0	0	0	0	0	1	12597	668	24	4		4	PROC	2	128183683	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	111295	128183683	115015690	2125	5741											
IWS1	55677	broad.mit.edu	37	2	128252448	128252448	+	Splice_Site	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:128252448T>G	ENST00000295321.4	-	8	2058	c.1799A>C	c.(1798-1800)aAg>aCg	p.K600T	AC010976.2_ENST00000599001.1_RNA|IWS1_ENST00000455721.2_3'UTR	NM_017969.2	NP_060439.2	Q96ST2	IWS1_HUMAN	IWS1 homolog (S. cerevisiae)	600					transcription, DNA-dependent	nucleus	DNA binding			cervix(1)|endometrium(2)|kidney(6)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0735)		AAATACTTACTTCTTAAGGTG	0.289													4	38					0	0	1	0	0	G	128252448	T	G	128252448	5	3	81	1	0	0	0	0	0	0	1	0	7975	1623	56	5	688	5	IWS1	2	128252448	Splice_Site	SNP	T	TCGA-DU-6392-01A-11D-1705-08	68765	128252448	114946925	2126	5742											
IWS1	55677	broad.mit.edu	37	2	128260962	128260962	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:128260962C>A	ENST00000295321.4	-	4	1669		c.e4+1		AC010976.2_ENST00000599001.1_RNA|IWS1_ENST00000455721.2_Splice_Site	NM_017969.2	NP_060439.2	Q96ST2	IWS1_HUMAN	IWS1 homolog (S. cerevisiae)						transcription, DNA-dependent	nucleus	DNA binding			cervix(1)|endometrium(2)|kidney(6)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0735)		CTGTCACTTACTCTTCTTCAT	0.403													15	175					3.45872e-05	3.85959e-05	1	1	0	A	128260962	C	A	128260962	5	1	81	1	0	0	0	0	0	0	1	0	7975	579	20	4	1093	4	IWS1	2	128260962	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	8514	128260962	114938411	2127	5743											
IWS1	55677	broad.mit.edu	37	2	128262702	128262702	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:128262702C>A	ENST00000295321.4	-	3	1036	c.777G>T	c.(775-777)caG>caT	p.Q259H	AC010976.2_ENST00000599001.1_RNA|IWS1_ENST00000455721.2_Missense_Mutation_p.Q266H	NM_017969.2	NP_060439.2	Q96ST2	IWS1_HUMAN	IWS1 homolog (S. cerevisiae)	259	3 X approximate tandem repeats.|Glu-rich.				transcription, DNA-dependent	nucleus	DNA binding			cervix(1)|endometrium(2)|kidney(6)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0735)		AGTCACTGGCCTGGTGCCTCG	0.537													10	199					4.68919e-08	5.54405e-08	1	1	0	A	128262702	C	A	128262702	3	1	81	1	0	0	0	0	1	0	0	0	7975	680	24	4	1730	4	IWS1	2	128262702	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1740	128262702	114936671	2128	5744											
IWS1	55677	broad.mit.edu	37	2	128262742	128262742	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:128262742C>T	ENST00000295321.4	-	3	996	c.737G>A	c.(736-738)cGt>cAt	p.R246H	AC010976.2_ENST00000599001.1_RNA|IWS1_ENST00000455721.2_Missense_Mutation_p.R253H	NM_017969.2	NP_060439.2	Q96ST2	IWS1_HUMAN	IWS1 homolog (S. cerevisiae)	246	3 X approximate tandem repeats.|Glu-rich.				transcription, DNA-dependent	nucleus	DNA binding			cervix(1)|endometrium(2)|kidney(6)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0735)		GTCACTGATACGAGGTTTGGG	0.517													79	101					0	0	1	0	0	T	128262742	C	T	128262742	3	4	81	1	0	0	0	0	1	0	0	0	7975	536	19	1	1770	1	IWS1	2	128262742	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	40	128262742	114936631	2129	5745											
MYO7B	4648	broad.mit.edu	37	2	128354116	128354116	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:128354116G>A	ENST00000389524.4	+	19	2377	c.2324G>A	c.(2323-2325)cGg>cAg	p.R775Q	MYO7B_ENST00000428314.1_Missense_Mutation_p.R775Q|MYO7B_ENST00000409816.2_Missense_Mutation_p.R775Q			Q6PIF6	MYO7B_HUMAN	myosin VIIB	775	IQ 2.					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		AAAGTCCTTCGGGGCTACAGA	0.617													5	8					0	0	1	0	0	A	128354116	G	A	128354116	3	1	81	1	0	0	0	0	1	0	0	0	10131	1116	39	1	2394	1	MYO7B	2	128354116	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	91374	128354116	114845257	2130	5746											
MYO7B	4648	broad.mit.edu	37	2	128367143	128367143	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:128367143G>T	ENST00000389524.4	+	23	2930	c.2877G>T	c.(2875-2877)gaG>gaT	p.E959D	MYO7B_ENST00000428314.1_Missense_Mutation_p.E959D|MYO7B_ENST00000409816.2_Missense_Mutation_p.E959D			Q6PIF6	MYO7B_HUMAN	myosin VIIB	959						apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		CCATGGCGGAGGAGCCTGAGG	0.582													8	10					0.0381472	0.0389402	1	1	0	T	128367143	G	T	128367143	3	4	81	1	0	0	0	0	1	0	0	0	10131	991	35	4	2963	4	MYO7B	2	128367143	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	13027	128367143	114832230	2131	5747											
MYO7B	4648	broad.mit.edu	37	2	128381746	128381746	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:128381746G>A	ENST00000389524.4	+	29	3873	c.3820G>A	c.(3820-3822)Gag>Aag	p.E1274K	MYO7B_ENST00000428314.1_Missense_Mutation_p.E1274K|MYO7B_ENST00000409090.1_Missense_Mutation_p.E127K|MYO7B_ENST00000409816.2_Missense_Mutation_p.E1274K			Q6PIF6	MYO7B_HUMAN	myosin VIIB	1274	FERM 1.					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		GGAGAGGGGCGAGAGCCAGCG	0.642													4	1					0	0	1	0	0	A	128381746	G	A	128381746	3	1	81	1	0	0	0	0	1	0	0	0	10131	1059	37	1	3930	1	MYO7B	2	128381746	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	14603	128381746	114817627	2132	5748											
MYO7B	4648	broad.mit.edu	37	2	128391772	128391772	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:128391772A>G	ENST00000389524.4	+	40	5511	c.5458A>G	c.(5458-5460)Aca>Gca	p.T1820A	MYO7B_ENST00000428314.1_Missense_Mutation_p.T1819A|MYO7B_ENST00000409090.1_Missense_Mutation_p.T672A|MYO7B_ENST00000409816.2_Missense_Mutation_p.T1819A			Q6PIF6	MYO7B_HUMAN	myosin VIIB	1819	FERM 2.|MyTH4 3.					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		GGTTGCCAACACACGGGTGCG	0.637													6	4					0	0	1	0	0	G	128391772	A	G	128391772	3	3	81	1	0	0	0	0	1	0	0	0	10131	159	6	3	5609	3	MYO7B	2	128391772	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	10026	128391772	114807601	2133	5749											
WDR33	55339	broad.mit.edu	37	2	128476856	128476856	+	Missense_Mutation	SNP	G	G	A	rs138525316		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:128476856G>A	ENST00000322313.4	-	16	2901	c.2743C>T	c.(2743-2745)Cgg>Tgg	p.R915W		NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33	915					postreplication repair|spermatogenesis	collagen|nucleus	protein binding			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		AAGGGGGCCCGGGGCCCATCA	0.517													10	151					0	0	1	0	0	A	128476856	G	A	128476856	3	1	81	1	0	0	0	0	1	0	0	0	17347	1115	39	1	1295	1	WDR33	2	128476856	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	85084	128476856	114722517	2134	5750											
WDR33	55339	broad.mit.edu	37	2	128480179	128480179	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:128480179C>T	ENST00000322313.4	-	14	1662	c.1504G>A	c.(1504-1506)Gct>Act	p.A502T		NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33	502					postreplication repair|spermatogenesis	collagen|nucleus	protein binding			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		TGGAACTGAGCAGGAATGGGT	0.418													8	131					0	0	1	0	0	T	128480179	C	T	128480179	3	4	81	1	0	0	0	0	1	0	0	0	17347	710	25	2	2542	2	WDR33	2	128480179	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3323	128480179	114719194	2135	5751											
AMMECR1L	83607	broad.mit.edu	37	2	128631594	128631594	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:128631594C>T	ENST00000272647.5	-	3	475	c.215G>A	c.(214-216)gGa>gAa	p.G72E	AMMECR1L_ENST00000393001.1_Missense_Mutation_p.G72E	NM_001199140.1	NP_001186069.1	Q6DCA0	AMERL_HUMAN	AMMECR1-like	72										central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)	9	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.07)		GGGAGAGTTTCCAGGTCCCAG	0.547													27	56					0	0	1	0	0	T	128631594	C	T	128631594	3	4	81	1	0	0	0	0	1	0	0	0	575	855	30	2	741	2	AMMECR1L	2	128631594	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	151415	128631594	114567779	2136	5752											
SAP130	79595	broad.mit.edu	37	2	128757937	128757937	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:128757937G>T	ENST00000357702.5	-	8	1170	c.1039C>A	c.(1039-1041)Cta>Ata	p.L347I	SAP130_ENST00000259234.6_Missense_Mutation_p.L321I|SAP130_ENST00000259235.3_Missense_Mutation_p.L347I	NM_001145928.1	NP_001139400.1	Q9H0E3	SP130_HUMAN	Sin3A-associated protein, 130kDa	347					histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity			NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		TGAGATGGTAGTGTGATTCTT	0.473													6	71					0.0381472	0.0389402	1	1	0	T	128757937	G	T	128757937	3	4	81	1	0	0	0	0	1	0	0	0	13883	1020	36	4	2268	4	SAP130	2	128757937	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	126343	128757937	114441436	2137	5753											
SAP130	79595	broad.mit.edu	37	2	128767870	128767870	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:128767870G>A	ENST00000357702.5	-	7	1051	c.920C>T	c.(919-921)gCg>gTg	p.A307V	SAP130_ENST00000259234.6_Missense_Mutation_p.A281V|SAP130_ENST00000259235.3_Missense_Mutation_p.A307V	NM_001145928.1	NP_001139400.1	Q9H0E3	SP130_HUMAN	Sin3A-associated protein, 130kDa	307					histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity			NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		AGCATGCGCCGCTGTCGTAGT	0.517													8	26					0	0	1	0	0	A	128767870	G	A	128767870	3	1	81	1	0	0	0	0	1	0	0	0	13883	1087	38	1	2391	1	SAP130	2	128767870	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	9933	128767870	114431503	2138	5754											
UGGT1	56886	broad.mit.edu	37	2	128877980	128877980	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:128877980T>C	ENST00000375990.3	+	9	1254	c.851T>C	c.(850-852)cTt>cCt	p.L284P	UGGT1_ENST00000259253.6_Missense_Mutation_p.L308P			Q9NYU2	UGGG1_HUMAN	UDP-glucose glycoprotein glucosyltransferase 1	308					'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding			NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						AGAAAGCATCTTGTAGAGAGC	0.403													6	201					0	0	1	0	0	C	128877980	T	C	128877980	3	2	81	1	0	0	0	0	1	0	0	0	17001	1609	56	3	957	3	UGGT1	2	128877980	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	110110	128877980	114321393	2139	5755											
UGGT1	56886	broad.mit.edu	37	2	128900742	128900742	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:128900742G>A	ENST00000375990.3	+	17	2125	c.1722G>A	c.(1720-1722)ccG>ccA	p.P574P	UGGT1_ENST00000259253.6_Silent_p.P598P			Q9NYU2	UGGG1_HUMAN	UDP-glucose glycoprotein glucosyltransferase 1	598					'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding			NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						AGAAATATCCGTATGTAGAAG	0.353													41	59					0	0	1	0	0	A	128900742	G	A	128900742	2	1	81	1	0	0	0	0	0	0	0	1	17001	1132	40	1		1	UGGT1	2	128900742	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	22762	128900742	114298631	2140	5756											
UGGT1	56886	broad.mit.edu	37	2	128922353	128922353	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:128922353A>G	ENST00000375990.3	+	26	3206	c.2803A>G	c.(2803-2805)Aaa>Gaa	p.K935E	UGGT1_ENST00000259253.6_Missense_Mutation_p.K959E			Q9NYU2	UGGG1_HUMAN	UDP-glucose glycoprotein glucosyltransferase 1	959					'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding			NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						AGCGCAACCAAAAGGAGATCC	0.363													12	17					0	0	1	0	0	G	128922353	A	G	128922353	3	3	81	1	0	0	0	0	1	0	0	0	17001	15	1	3	2977	3	UGGT1	2	128922353	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	21611	128922353	114277020	2141	5757											
POTEF	728378	broad.mit.edu	37	2	130832316	130832316	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:130832316C>T	ENST00000357462.5	-	15	2822	c.2729G>A	c.(2728-2730)cGt>cAt	p.R910H	POTEF_ENST00000409914.2_Missense_Mutation_p.R910H			A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	910	Actin-like.					cell cortex	ATP binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						TTTGATGTCACGCACGATTTC	0.592													20	28					0	0	1	0	0	T	130832316	C	T	130832316	3	4	81	1	0	0	0	0	1	0	0	0	12312	536	19	1	502	1	POTEF	2	130832316	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1909963	130832316	112367057	2142	5758											
CCDC74B	91409	broad.mit.edu	37	2	130897934	130897934	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:130897934C>T	ENST00000392984.3	-	4	1743	c.1000G>A	c.(1000-1002)Gca>Aca	p.A334T	CCDC74B_ENST00000409943.3_Missense_Mutation_p.A166T|CCDC74B_ENST00000310463.6_Missense_Mutation_p.A232T			Q96LY2	CC74B_HUMAN	coiled-coil domain containing 74B	232										endometrium(2)|large_intestine(1)|lung(3)	6	Colorectal(110;0.1)					GAGGCCTCTGCTTTCTCCTTT	0.637													42	64					0	0	1	0	0	T	130897934	C	T	130897934	3	4	81	1	0	0	0	0	1	0	0	0	2868	797	28	2	464	2	CCDC74B	2	130897934	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	65618	130897934	112301439	2143	5759											
PTPN18	26469	broad.mit.edu	37	2	131116870	131116870	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:131116870C>T	ENST00000175756.5	+	3	368	c.267C>T	c.(265-267)ggC>ggT	p.G89G	PTPN18_ENST00000420717.1_3'UTR|PTPN18_ENST00000347849.3_Intron	NM_014369.3	NP_055184.2	Q99952	PTN18_HUMAN	protein tyrosine phosphatase, non-receptor type 18 (brain-derived)	89	Tyrosine-protein phosphatase.					cytoplasm|nucleus	non-membrane spanning protein tyrosine phosphatase activity			endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(3)|prostate(1)	15	Colorectal(110;0.1)					ACATTAATGGCAACTTCATCC	0.567													26	34					0	0	1	0	0	T	131116870	C	T	131116870	2	4	81	1	0	0	0	0	0	0	0	1	12834	697	25	2		2	PTPN18	2	131116870	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	218936	131116870	112082503	2144	5760											
ARHGEF4	50649	broad.mit.edu	37	2	131803000	131803000	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:131803000G>T	ENST00000392953.3	+	13	2421	c.1902G>T	c.(1900-1902)caG>caT	p.Q634H	ARHGEF4_ENST00000355771.3_Missense_Mutation_p.Q563H|ARHGEF4_ENST00000409303.1_Missense_Mutation_p.Q574H|ARHGEF4_ENST00000326016.5_Missense_Mutation_p.Q634H|ARHGEF4_ENST00000428230.2_Intron|ARHGEF4_ENST00000525839.1_Missense_Mutation_p.Q634H	NM_032995.1	NP_127462.1	Q9NR80	ARHG4_HUMAN	Rho guanine nucleotide exchange factor (GEF) 4	634					apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|lamellipodium assembly|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|ruffle membrane	protein domain specific binding|Rac guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(4)	29		Prostate(154;0.055)		BRCA - Breast invasive adenocarcinoma(221;0.097)		GCAAGCAGCAGGTCACAGGGA	0.612													4	33					0.000602214	0.000646338	1	1	0	T	131803000	G	T	131803000	3	4	81	1	0	0	0	0	1	0	0	0	905	991	35	4	1944	4	ARHGEF4	2	131803000	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	686130	131803000	111396373	2145	5761											
POTEE	445582	broad.mit.edu	37	2	132021757	132021757	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:132021757G>A	ENST00000356920.5	+	15	2823	c.2729G>A	c.(2728-2730)cGt>cAt	p.R910H	POTEE_ENST00000358087.5_3'UTR|PLEKHB2_ENST00000303908.3_Intron|PLEKHB2_ENST00000404460.1_Intron	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	910	Actin-like.						ATP binding										GAAATCGTGCGTGACATCAAA	0.602													12	145					0	0	1	0	0	A	132021757	G	A	132021757	3	1	81	1	0	0	0	0	1	0	0	0	12311	1145	40	1	2787	1	POTEE	2	132021757	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	218757	132021757	111177616	2146	5762											
GPR39	2863	broad.mit.edu	37	2	133174975	133174975	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:133174975C>T	ENST00000329321.3	+	1	829	c.360C>T	c.(358-360)taC>taT	p.Y120Y		NM_001508.2	NP_001499.1	O43194	GPR39_HUMAN	G protein-coupled receptor 39	120						integral to plasma membrane	G-protein coupled receptor activity|metal ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CCTGCAGCTACGCTACGCTGC	0.577													15	18					0	0	1	0	0	T	133174975	C	T	133174975	2	4	81	1	0	0	0	0	0	0	0	1	6733	547	19	1		1	GPR39	2	133174975	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1153218	133174975	110024398	2147	5763											
NCKAP5	344148	broad.mit.edu	37	2	133541148	133541148	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:133541148G>A	ENST00000409261.1	-	14	3609	c.3236C>T	c.(3235-3237)aCg>aTg	p.T1079M	NCKAP5_ENST00000317721.6_Missense_Mutation_p.T1079M|NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000405974.3_Intron	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	1079							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						TTTGGAGGACGTCATTTCCAG	0.507													90	131					0	0	1	0	0	A	133541148	G	A	133541148	3	1	81	1	0	0	0	0	1	0	0	0	10270	1145	40	1	2521	1	NCKAP5	2	133541148	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	366173	133541148	109658225	2148	5764											
NCKAP5	344148	broad.mit.edu	37	2	133887564	133887564	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:133887564C>A	ENST00000409261.1	-	6	700	c.327G>T	c.(325-327)caG>caT	p.Q109H	NCKAP5_ENST00000317721.6_Missense_Mutation_p.Q109H|NCKAP5_ENST00000409213.1_Missense_Mutation_p.Q109H|NCKAP5_ENST00000405974.3_Missense_Mutation_p.Q109H	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	109							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						AGAACTGCTGCTGCAAGCTAC	0.483													9	12					3.09899e-07	3.60815e-07	1	1	0	A	133887564	C	A	133887564	3	1	81	1	0	0	0	0	1	0	0	0	10270	796	28	4	5462	4	NCKAP5	2	133887564	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	346416	133887564	109311809	2149	5765											
TMEM163	81615	broad.mit.edu	37	2	135215669	135215669	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:135215669G>A	ENST00000281924.6	-	7	807	c.743C>T	c.(742-744)gCg>gTg	p.A248V		NM_030923.4	NP_112185.1	Q8TC26	TM163_HUMAN	transmembrane protein 163	248						integral to membrane				endometrium(1)|large_intestine(5)|lung(8)|stomach(1)|urinary_tract(1)	16				BRCA - Breast invasive adenocarcinoma(221;0.154)		GTACCAGACCGCCGAGTCATG	0.542													35	49					0	0	1	0	0	A	135215669	G	A	135215669	3	1	81	1	0	0	0	0	1	0	0	0	16138	1087	38	1	134	1	TMEM163	2	135215669	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1328105	135215669	107983704	2150	5766											
ACMSD	130013	broad.mit.edu	37	2	135616830	135616830	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:135616830G>T	ENST00000356140.5	+	3	238		c.e3-1		AC016725.4_ENST00000392929.2_RNA|ACMSD_ENST00000392928.1_Splice_Site|ACMSD_ENST00000283054.4_Splice_Site	NM_138326.2	NP_612199.2	Q8TDX5	ACMSD_HUMAN	aminocarboxymuconate semialdehyde decarboxylase						quinolinate metabolic process|tryptophan catabolic process	cytosol	aminocarboxymuconate-semialdehyde decarboxylase activity|metal ion binding			endometrium(3)|large_intestine(4)|lung(6)|skin(1)	14				BRCA - Breast invasive adenocarcinoma(221;0.115)		TTCTGCCCCAGGGAGAAGCAA	0.403													13	16					5.50884e-06	6.24461e-06	1	1	0	T	135616830	G	T	135616830	5	4	81	1	0	0	0	0	0	0	1	0	144	1014	35	4	112	4	ACMSD	2	135616830	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	401161	135616830	107582543	2151	5767											
CCNT2	905	broad.mit.edu	37	2	135696617	135696617	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:135696617A>C	ENST00000264157.5	+	4	445	c.415A>C	c.(415-417)Atg>Ctg	p.M139L	CCNT2_ENST00000537343.1_5'UTR|CCNT2_ENST00000295238.6_Missense_Mutation_p.M139L	NM_001241.3|NM_058241.2	NP_001232.1|NP_490595.1	O60583	CCNT2_HUMAN	cyclin T2	139					cell cycle|cell division|interspecies interaction between organisms|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	protein kinase binding			endometrium(2)|kidney(3)|large_intestine(10)|lung(6)|ovary(2)|prostate(1)|skin(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.107)		TGAAACCATAATGCTACAAAC	0.284													9	60					0	0	1	0	0	C	135696617	A	C	135696617	3	2	81	1	0	0	0	0	1	0	0	0	2957	101	4	4	429	4	CCNT2	2	135696617	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	79787	135696617	107502756	2152	5768											
CCNT2	905	broad.mit.edu	37	2	135711150	135711150	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:135711150C>T	ENST00000264157.5	+	9	1155	c.1125C>T	c.(1123-1125)agC>agT	p.S375S	CCNT2_ENST00000537343.1_Silent_p.S200S|CCNT2_ENST00000295238.6_Silent_p.S375S	NM_001241.3|NM_058241.2	NP_001232.1|NP_490595.1	O60583	CCNT2_HUMAN	cyclin T2	375					cell cycle|cell division|interspecies interaction between organisms|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	protein kinase binding			endometrium(2)|kidney(3)|large_intestine(10)|lung(6)|ovary(2)|prostate(1)|skin(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.107)		TGTCTGGTAGCCAGTACAACA	0.423													55	67					0	0	1	0	0	T	135711150	C	T	135711150	2	4	81	1	0	0	0	0	0	0	0	1	2957	738	26	2		2	CCNT2	2	135711150	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	14533	135711150	107488223	2153	5769											
CCNT2	905	broad.mit.edu	37	2	135711799	135711799	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:135711799G>A	ENST00000264157.5	+	9	1804	c.1774G>A	c.(1774-1776)Gac>Aac	p.D592N	CCNT2_ENST00000537343.1_Missense_Mutation_p.D417N|CCNT2_ENST00000295238.6_Missense_Mutation_p.D592N	NM_001241.3|NM_058241.2	NP_001232.1|NP_490595.1	O60583	CCNT2_HUMAN	cyclin T2	592					cell cycle|cell division|interspecies interaction between organisms|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	protein kinase binding			endometrium(2)|kidney(3)|large_intestine(10)|lung(6)|ovary(2)|prostate(1)|skin(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.107)		ACACAGTGCCGACGGAATACC	0.557													21	29					0	0	1	0	0	A	135711799	G	A	135711799	3	1	81	1	0	0	0	0	1	0	0	0	2957	1058	37	1	1808	1	CCNT2	2	135711799	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	649	135711799	107487574	2154	5770											
R3HDM1	23518	broad.mit.edu	37	2	136409340	136409340	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:136409340C>A	ENST00000264160.4	+	17	2031	c.1661C>A	c.(1660-1662)gCt>gAt	p.A554D	R3HDM1_ENST00000410054.1_Missense_Mutation_p.A499D|R3HDM1_ENST00000409478.1_Missense_Mutation_p.A426D|R3HDM1_ENST00000329971.3_Missense_Mutation_p.A425D|R3HDM1_ENST00000409606.1_Missense_Mutation_p.A555D	NM_001282798.1|NM_015361.2	NP_001269727.1|NP_056176.2	Q15032	R3HD1_HUMAN	R3H domain containing 1	554							nucleic acid binding			breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	38				BRCA - Breast invasive adenocarcinoma(221;0.127)		ATGAGTCTTGCTCGCCAGCCA	0.458													6	192					0.248553	0.249876	1	1	0	A	136409340	C	A	136409340	3	1	81	1	0	0	0	0	1	0	0	0	12939	797	28	4	1719	4	R3HDM1	2	136409340	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	697541	136409340	106790033	2155	5771											
UBXN4	23190	broad.mit.edu	37	2	136513157	136513157	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:136513157C>T	ENST00000272638.9	+	5	715	c.404C>T	c.(403-405)tCt>tTt	p.S135F	UBXN4_ENST00000490163.1_3'UTR	NM_014607.3	NP_055422.1	Q92575	UBXN4_HUMAN	UBX domain protein 4	135					response to unfolded protein	endoplasmic reticulum membrane|nuclear envelope	protein binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	24						TCTACTCCATCTGCGTCATTT	0.383													20	22					0	0	1	0	0	T	136513157	C	T	136513157	3	4	81	1	0	0	0	0	1	0	0	0	16976	913	32	2	422	2	UBXN4	2	136513157	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	103817	136513157	106686216	2156	5772											
LCT	3938	broad.mit.edu	37	2	136552211	136552211	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:136552211C>A	ENST00000264162.2	-	14	5121	c.5111G>T	c.(5110-5112)aGa>aTa	p.R1704I		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	1704	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		GTGGACTTACCTGTCTGCATC	0.532													5	47					0.014758	0.0152304	1	1	0	A	136552211	C	A	136552211	5	1	81	1	0	0	0	0	0	0	1	0	8732	695	24	4	688	4	LCT	2	136552211	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	39054	136552211	106647162	2157	5773											
LCT	3938	broad.mit.edu	37	2	136555613	136555613	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:136555613G>T	ENST00000264162.2	-	13	4972	c.4962C>A	c.(4960-4962)ggC>ggA	p.G1654G		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	1654	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		ACTTGTTGAGGCCTGCAGCCA	0.562											OREG0014998	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	20	32					5.26018e-13	6.61446e-13	1	1	0	T	136555613	G	T	136555613	2	4	81	1	0	0	0	0	0	0	0	1	8732	1190	42	5		5	LCT	2	136555613	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	3402	136555613	106643760	2158	5774											
LCT	3938	broad.mit.edu	37	2	136562398	136562398	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:136562398G>A	ENST00000264162.2	-	10	4413	c.4403C>T	c.(4402-4404)gCg>gTg	p.A1468V		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	1468	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		GTTCAGGCCCGCTTCATTGAT	0.577													19	37					0	0	1	0	0	A	136562398	G	A	136562398	3	1	81	1	0	0	0	0	1	0	0	0	8732	1087	38	1	1412	1	LCT	2	136562398	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	6785	136562398	106636975	2159	5775											
LCT	3938	broad.mit.edu	37	2	136594306	136594306	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:136594306T>C	ENST00000264162.2	-	1	444	c.434A>G	c.(433-435)gAa>gGa	p.E145G		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	145	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		AGCAAAGGCTTCGGTTCTCCG	0.597													6	39					0	0	1	0	0	C	136594306	T	C	136594306	3	2	81	1	0	0	0	0	1	0	0	0	8732	1783	62	3	5417	3	LCT	2	136594306	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	31908	136594306	106605067	2160	5776											
MCM6	4175	broad.mit.edu	37	2	136626210	136626210	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:136626210T>C	ENST00000264156.2	-	4	646	c.586A>G	c.(586-588)Aat>Gat	p.N196D		NM_005915.5	NP_005906.2	Q14566	MCM6_HUMAN	minichromosome maintenance complex component 6	196					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|identical protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(15)|prostate(2)|skin(1)	29				BRCA - Breast invasive adenocarcinoma(221;0.166)	Atorvastatin(DB01076)	CTTGATTTATTTGTATCCAGT	0.368													10	77					0	0	1	0	0	C	136626210	T	C	136626210	3	2	81	1	0	0	0	0	1	0	0	0	9441	1841	64	3	1935	3	MCM6	2	136626210	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	31904	136626210	106573163	2161	5777											
CXCR4	7852	broad.mit.edu	37	2	136872919	136872919	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:136872919G>A	ENST00000409817.1	-	1	894	c.591C>T	c.(589-591)gaC>gaT	p.D197D	CXCR4_ENST00000241393.3_Silent_p.D193D|CXCR4_ENST00000466288.1_5'UTR	NM_001008540.1	NP_001008540.1	P61073	CXCR4_HUMAN	chemokine (C-X-C motif) receptor 4	193	Involved in dimerization.				activation of MAPK activity|apoptosis|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|entry into host cell|inflammatory response|initiation of viral infection|regulation of chemotaxis|response to hypoxia|response to virus	cell leading edge|cell surface|cytoplasmic membrane-bounded vesicle|integral to membrane|plasma membrane	actin binding|C-X-C chemokine receptor activity|coreceptor activity|myosin light chain binding|ubiquitin binding|ubiquitin protein ligase binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.155)	Framycetin(DB00452)	CCACCCACAAGTCATTGGGGT	0.493													35	36					0	0	1	0	0	A	136872919	G	A	136872919	2	1	81	1	0	0	0	0	0	0	0	1	4116	1020	36	2		2	CXCR4	2	136872919	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	246709	136872919	106326454	2162	5778											
THSD7B	80731	broad.mit.edu	37	2	137814073	137814073	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:137814073A>G	ENST00000409968.1	+	3	401	c.223A>G	c.(223-225)Aca>Gca	p.T75A	THSD7B_ENST00000413152.2_Missense_Mutation_p.T44A|THSD7B_ENST00000272643.3_Missense_Mutation_p.T75A					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		TGACGGGTGGACAAGTCACCT	0.532													18	26					0	0	1	0	0	G	137814073	A	G	137814073	3	3	81	1	0	0	0	0	1	0	0	0	15940	275	10	3	136	3	THSD7B	2	137814073	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	941154	137814073	105385300	2163	5779											
THSD7B	80731	broad.mit.edu	37	2	137814102	137814102	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:137814102C>T	ENST00000409968.1	+	3	430	c.252C>T	c.(250-252)agC>agT	p.S84S	THSD7B_ENST00000413152.2_Silent_p.S53S|THSD7B_ENST00000272643.3_Silent_p.S84S					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		GTGGTGAGAGCAACAGGCCTC	0.532													16	21					0	0	1	0	0	T	137814102	C	T	137814102	2	4	81	1	0	0	0	0	0	0	0	1	15940	709	25	2		2	THSD7B	2	137814102	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	29	137814102	105385271	2164	5780											
THSD7B	80731	broad.mit.edu	37	2	138376002	138376002	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:138376002T>C	ENST00000409968.1	+	19	3784	c.3606T>C	c.(3604-3606)ggT>ggC	p.G1202G	THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000413152.2_Silent_p.G1174G|THSD7B_ENST00000272643.3_Silent_p.G1205G					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		CACCCTGTGGTCAAGGCGTCA	0.493													3	26					0	0	1	0	0	C	138376002	T	C	138376002	2	2	81	1	0	0	0	0	0	0	0	1	15940	1654	58	3		3	THSD7B	2	138376002	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	561900	138376002	104823371	2165	5781											
THSD7B	80731	broad.mit.edu	37	2	138400110	138400110	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:138400110G>A	ENST00000409968.1	+	21	4030	c.3852G>A	c.(3850-3852)cgG>cgA	p.R1284R	THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000413152.2_Silent_p.R1256R|THSD7B_ENST00000272643.3_Silent_p.R1287R					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		GAGAAGGACGGCCATGCCCCA	0.512													8	96					0	0	1	0	0	A	138400110	G	A	138400110	2	1	81	1	0	0	0	0	0	0	0	1	15940	1190	42	2		2	THSD7B	2	138400110	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	24108	138400110	104799263	2166	5782											
LRP1B	53353	broad.mit.edu	37	2	141072507	141072507	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:141072507G>A	ENST00000389484.3	-	83	13773	c.12802C>T	c.(12802-12804)Cta>Tta	p.L4268L		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4268	EGF-like 11.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.L4268I(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TATTTACCTAGAACTGATGGT	0.353										TSP Lung(27;0.18)			13	29					0	0	1	0	0	A	141072507	G	A	141072507	2	1	81	1	0	0	0	0	0	0	0	1	9000	933	33	2		2	LRP1B	2	141072507	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2672397	141072507	102126866	2167	5783											
LRP1B	53353	broad.mit.edu	37	2	141072547	141072547	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:141072547G>A	ENST00000389484.3	-	83	13733	c.12762C>T	c.(12760-12762)agC>agT	p.S4254S		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4254	EGF-like 11.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GGCAGTAGTTGCTACAGTGGT	0.373										TSP Lung(27;0.18)			16	33					0	0	1	0	0	A	141072547	G	A	141072547	2	1	81	1	0	0	0	0	0	0	0	1	9000	1310	46	2		2	LRP1B	2	141072547	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	40	141072547	102126826	2168	5784											
LRP1B	53353	broad.mit.edu	37	2	141232864	141232864	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:141232864G>A	ENST00000389484.3	-	60	10439	c.9468C>T	c.(9466-9468)ggC>ggT	p.G3156G		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3156					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TTCCAACACGGCCAATATGAG	0.368										TSP Lung(27;0.18)			28	37					0	0	1	0	0	A	141232864	G	A	141232864	2	1	81	1	0	0	0	0	0	0	0	1	9000	1190	42	2		2	LRP1B	2	141232864	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	160317	141232864	101966509	2169	5785											
LRP1B	53353	broad.mit.edu	37	2	141259299	141259299	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:141259299C>T	ENST00000389484.3	-	55	9778	c.8807G>A	c.(8806-8808)aGt>aAt	p.S2936N		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2936	EGF-like 6.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		AGAACATCCACTGACTTTCTT	0.403										TSP Lung(27;0.18)			8	82					0	0	1	0	0	T	141259299	C	T	141259299	3	4	81	1	0	0	0	0	1	0	0	0	9000	565	20	2	5140	2	LRP1B	2	141259299	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	26435	141259299	101940074	2170	5786											
LRP1B	53353	broad.mit.edu	37	2	141264418	141264418	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:141264418A>G	ENST00000389484.3	-	53	9439	c.8468T>C	c.(8467-8469)gTt>gCt	p.V2823A		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2823	LDL-receptor class A 18.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ATGGTCACAAACAAATTGCTT	0.393										TSP Lung(27;0.18)			8	148					0	0	1	0	0	G	141264418	A	G	141264418	3	3	81	1	0	0	0	0	1	0	0	0	9000	43	2	3	5487	3	LRP1B	2	141264418	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	5119	141264418	101934955	2171	5787											
LRP1B	53353	broad.mit.edu	37	2	141298623	141298623	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:141298623A>G	ENST00000389484.3	-	45	8403	c.7432T>C	c.(7432-7434)Ttg>Ctg	p.L2478L		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2478					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.L2478L(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		AAAAGGCACAAGTCATGGCAG	0.403										TSP Lung(27;0.18)			9	75					0	0	1	0	0	G	141298623	A	G	141298623	2	3	81	1	0	0	0	0	0	0	0	1	9000	69	3	3		3	LRP1B	2	141298623	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	34205	141298623	101900750	2172	5788											
LRP1B	53353	broad.mit.edu	37	2	141460049	141460049	+	Missense_Mutation	SNP	C	C	T	rs144546789	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:141460049C>T	ENST00000389484.3	-	38	7068	c.6097G>A	c.(6097-6099)Gtc>Atc	p.V2033I		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2033					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CTTACAAGGACAACCTTCTCT	0.428										TSP Lung(27;0.18)			22	41					0	0	1	0	0	T	141460049	C	T	141460049	3	4	81	1	0	0	0	0	1	0	0	0	9000	478	17	2	7918	2	LRP1B	2	141460049	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	161426	141460049	101739324	2173	5789											
LRP1B	53353	broad.mit.edu	37	2	141460073	141460073	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:141460073G>A	ENST00000389484.3	-	38	7044	c.6073C>T	c.(6073-6075)Cgc>Tgc	p.R2025C		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2025					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.R2025S(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CCATCCAAGCGAGCCTTTCCA	0.408										TSP Lung(27;0.18)			27	42					0	0	1	0	0	A	141460073	G	A	141460073	3	1	81	1	0	0	0	0	1	0	0	0	9000	1058	37	1	7942	1	LRP1B	2	141460073	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	24	141460073	101739300	2174	5790											
LRP1B	53353	broad.mit.edu	37	2	141641410	141641410	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:141641410G>A	ENST00000389484.3	-	25	5116	c.4145C>T	c.(4144-4146)gCc>gTc	p.A1382V		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1382					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CAAAGCAATGGCCCTGGGGTG	0.383										TSP Lung(27;0.18)			40	73					0	0	1	0	0	A	141641410	G	A	141641410	3	1	81	1	0	0	0	0	1	0	0	0	9000	1203	42	2	9922	2	LRP1B	2	141641410	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	181337	141641410	101557963	2175	5791											
LRP1B	53353	broad.mit.edu	37	2	141665541	141665541	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:141665541G>T	ENST00000389484.3	-	22	4396	c.3425C>A	c.(3424-3426)cCt>cAt	p.P1142H		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1142	LDL-receptor class A 10.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ATTAGCACAAGGATGCTTGGG	0.463										TSP Lung(27;0.18)			13	109					0.00185496	0.00197056	1	1	0	T	141665541	G	T	141665541	3	4	81	1	0	0	0	0	1	0	0	0	9000	1000	35	4	10654	4	LRP1B	2	141665541	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	24131	141665541	101533832	2176	5792											
LRP1B	53353	broad.mit.edu	37	2	141707849	141707849	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:141707849A>G	ENST00000389484.3	-	20	4062	c.3091T>C	c.(3091-3093)Tgt>Cgt	p.C1031R		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1031	LDL-receptor class A 7.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		AAGTCCCCACAGTCATTGTCA	0.398										TSP Lung(27;0.18)			11	22					0	0	1	0	0	G	141707849	A	G	141707849	3	3	81	1	0	0	0	0	1	0	0	0	9000	188	7	3	10996	3	LRP1B	2	141707849	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	42308	141707849	101491524	2177	5793											
LRP1B	53353	broad.mit.edu	37	2	142004838	142004838	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:142004838G>A	ENST00000389484.3	-	5	1520	c.549C>T	c.(547-549)ggC>ggT	p.G183G		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	183	EGF-like 2; calcium-binding (Potential).				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GCATTAGGTAGCCTTCCACAC	0.378										TSP Lung(27;0.18)			8	87					0	0	1	0	0	A	142004838	G	A	142004838	2	1	81	1	0	0	0	0	0	0	0	1	9000	958	34	2		2	LRP1B	2	142004838	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	296989	142004838	101194535	2178	5794											
KYNU	8942	broad.mit.edu	37	2	143790850	143790850	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:143790850C>A	ENST00000264170.4	+	12	1259	c.1001C>A	c.(1000-1002)cCt>cAt	p.P334H	KYNU_ENST00000409512.1_Missense_Mutation_p.P334H	NM_003937.2	NP_003928.1	Q16719	KYNU_HUMAN	kynureninase	334					anthranilate metabolic process|NAD biosynthetic process|quinolinate biosynthetic process|response to interferon-gamma|response to vitamin B6	cytosol|mitochondrion|soluble fraction	kynureninase activity|protein homodimerization activity			large_intestine(10)|liver(1)|lung(18)|prostate(3)|skin(4)	36				BRCA - Breast invasive adenocarcinoma(221;0.072)	L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)	ATTTCAAATCCTCCCATTTTG	0.378													9	279					2.17888e-05	2.43576e-05	1	1	0	A	143790850	C	A	143790850	3	1	81	1	0	0	0	0	1	0	0	0	8626	681	24	4	1069	4	KYNU	2	143790850	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1786012	143790850	99408523	2179	5795											
ARHGAP15	55843	broad.mit.edu	37	2	144193179	144193179	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:144193179G>A	ENST00000295095.6	+	7	651	c.484G>A	c.(484-486)Gta>Ata	p.V162I	AC096558.1_ENST00000442794.1_RNA|RP11-570L15.2_ENST00000546678.1_RNA|AC096558.1_ENST00000550516.1_RNA|AC096558.1_ENST00000549032.1_RNA	NM_018460.3	NP_060930.3	Q53QZ3	RHG15_HUMAN	Rho GTPase activating protein 15	162	PH.				regulation of cell shape|small GTPase mediated signal transduction	cytosol|membrane	protein binding|Rac GTPase activator activity	p.V162L(1)		endometrium(1)|kidney(5)|large_intestine(8)|liver(2)|lung(15)|ovary(1)|skin(2)	34				BRCA - Breast invasive adenocarcinoma(221;0.151)		GATCACAACAGTATCAGGAAA	0.299													11	13					0	0	1	0	0	A	144193179	G	A	144193179	3	1	81	1	0	0	0	0	1	0	0	0	863	1029	36	2	506	2	ARHGAP15	2	144193179	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	402329	144193179	99006194	2180	5796											
GTDC1	79712	broad.mit.edu	37	2	144764824	144764824	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:144764824G>T	ENST00000392869.2	-	6	952	c.800C>A	c.(799-801)aCt>aAt	p.T267N	GTDC1_ENST00000463875.2_Missense_Mutation_p.T138N|GTDC1_ENST00000409214.1_Missense_Mutation_p.T267N|GTDC1_ENST00000241391.5_Missense_Mutation_p.T267N|GTDC1_ENST00000344850.4_Missense_Mutation_p.T267N|GTDC1_ENST00000392867.3_Missense_Mutation_p.T267N|GTDC1_ENST00000409298.1_Intron|GTDC1_ENST00000542155.1_Missense_Mutation_p.T267N	NM_001284234.1	NP_001271163.1	Q4AE62	GTDC1_HUMAN	glycosyltransferase-like domain containing 1						biosynthetic process		transferase activity, transferring glycosyl groups			central_nervous_system(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(17)|ovary(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.0914)		GGGATCAACAGTCAGATTTTG	0.398													11	50					2.68362e-12	3.3506e-12	1	1	0	T	144764824	G	T	144764824	3	4	81	1	0	0	0	0	1	0	0	0	6892	1029	36	4	600	4	GTDC1	2	144764824	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	571645	144764824	98434549	2181	5797											
ZEB2	9839	broad.mit.edu	37	2	145147065	145147065	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:145147065C>A	ENST00000558170.2	-	10	4782	c.3598G>T	c.(3598-3600)Gaa>Taa	p.E1200*	ZEB2_ENST00000539609.3_Nonsense_Mutation_p.E1176*|ZEB2_ENST00000409487.3_Nonsense_Mutation_p.E1200*|ZEB2_ENST00000303660.4_Nonsense_Mutation_p.E1200*	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	1200	Glu-rich (acidic).					cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		GATTTGGTTTCCATTTTCCCA	0.388													10	234					0.0692343	0.0705186	1	1	0	A	145147065	C	A	145147065	4	1	81	1	0	0	0	0	0	1	0	0	17682	864	30	5	50	5	ZEB2	2	145147065	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	382241	145147065	98052308	2182	5798											
ZEB2	9839	broad.mit.edu	37	2	145147242	145147242	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:145147242C>T	ENST00000558170.2	-	10	4605	c.3421G>A	c.(3421-3423)Gag>Aag	p.E1141K	ZEB2_ENST00000539609.3_Missense_Mutation_p.E1117K|ZEB2_ENST00000409487.3_Missense_Mutation_p.E1141K|ZEB2_ENST00000303660.4_Missense_Mutation_p.E1141K	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	1141	Glu-rich (acidic).					cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		CCTTCTTTCTCGTGCTCCTTC	0.547													16	121					0	0	1	0	0	T	145147242	C	T	145147242	3	4	81	1	0	0	0	0	1	0	0	0	17682	893	31	1	227	1	ZEB2	2	145147242	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	177	145147242	98052131	2183	5799											
ZEB2	9839	broad.mit.edu	37	2	145156357	145156357	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:145156357A>G	ENST00000558170.2	-	8	3581	c.2397T>C	c.(2395-2397)agT>agC	p.S799S	ZEB2_ENST00000539609.3_Silent_p.S775S|ZEB2_ENST00000409487.3_Silent_p.S799S|ZEB2_ENST00000303660.4_Silent_p.S799S	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	799						cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		GAGTGTATGAACTACTGTGGG	0.393													19	133					0	0	1	0	0	G	145156357	A	G	145156357	2	3	81	1	0	0	0	0	0	0	0	1	17682	40	2	3		3	ZEB2	2	145156357	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	9115	145156357	98043016	2184	5800											
ZEB2	9839	broad.mit.edu	37	2	145158778	145158778	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:145158778G>A	ENST00000558170.2	-	7	2088	c.904C>T	c.(904-906)Cga>Tga	p.R302*	ZEB2_ENST00000539609.3_Nonsense_Mutation_p.R278*|ZEB2_ENST00000409487.3_Nonsense_Mutation_p.R302*|ZEB2_ENST00000303660.4_Nonsense_Mutation_p.R302*	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	302						cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		CTGTGAATTCGCAGGTGTTCT	0.408													32	58					0	0	1	0	0	A	145158778	G	A	145158778	4	1	81	1	0	0	0	0	0	1	0	0	17682	1095	38	1	2756	1	ZEB2	2	145158778	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2421	145158778	98040595	2185	5801											
MBD5	55777	broad.mit.edu	37	2	149227755	149227755	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:149227755T>C	ENST00000407073.1	+	9	3240	c.2243T>C	c.(2242-2244)gTt>gCt	p.V748A	MBD5_ENST00000404807.1_Missense_Mutation_p.V748A	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	748						chromosome|nucleus	chromatin binding|DNA binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		AACTCTAGTGTTCTTCAGAAC	0.473													19	28					0	0	1	0	0	C	149227755	T	C	149227755	3	2	81	1	0	0	0	0	1	0	0	0	9397	1725	60	3	2257	3	MBD5	2	149227755	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	4068977	149227755	93971618	2186	5802											
MBD5	55777	broad.mit.edu	37	2	149240918	149240918	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:149240918A>G	ENST00000407073.1	+	10	3755	c.2758A>G	c.(2758-2760)Agt>Ggt	p.S920G	MBD5_ENST00000404807.1_Missense_Mutation_p.S920G	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	920						chromosome|nucleus	chromatin binding|DNA binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		CAGCCTCCTCAGTTCTCTACC	0.463													13	151					0	0	1	0	0	G	149240918	A	G	149240918	3	3	81	1	0	0	0	0	1	0	0	0	9397	188	7	3	2776	3	MBD5	2	149240918	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	13163	149240918	93958455	2187	5803											
EPC2	26122	broad.mit.edu	37	2	149522544	149522544	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:149522544G>A	ENST00000258484.6	+	7	1003	c.969G>A	c.(967-969)ttG>ttA	p.L323L		NM_015630.3	NP_056445.3	Q52LR7	EPC2_HUMAN	enhancer of polycomb homolog 2 (Drosophila)	323					chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.0516)		ATTTGTCTTTGAAAGAAGAGG	0.383													9	17					0	0	1	0	0	A	149522544	G	A	149522544	2	1	81	1	0	0	0	0	0	0	0	1	5189	1281	45	2		2	EPC2	2	149522544	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	281626	149522544	93676829	2188	5804											
EPC2	26122	broad.mit.edu	37	2	149543884	149543884	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:149543884G>A	ENST00000258484.6	+	14	2396	c.2362G>A	c.(2362-2364)Gaa>Aaa	p.E788K		NM_015630.3	NP_056445.3	Q52LR7	EPC2_HUMAN	enhancer of polycomb homolog 2 (Drosophila)	788					chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.0516)		AGAGAACCACGAACCAGAAAG	0.373													5	9					0	0	1	0	0	A	149543884	G	A	149543884	3	1	81	1	0	0	0	0	1	0	0	0	5189	1059	37	1	2416	1	EPC2	2	149543884	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	21340	149543884	93655489	2189	5805											
RIF1	55183	broad.mit.edu	37	2	152292042	152292042	+	Silent	SNP	G	G	A	rs149346205		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:152292042G>A	ENST00000243326.5	+	10	1626	c.1143G>A	c.(1141-1143)tcG>tcA	p.S381S	RIF1_ENST00000430328.2_Silent_p.S381S|RIF1_ENST00000433166.2_Intron|RIF1_ENST00000428287.2_Silent_p.S381S|RIF1_ENST00000453091.2_Silent_p.S381S|RIF1_ENST00000444746.2_Silent_p.S381S			Q5UIP0	RIF1_HUMAN	RAP1 interacting factor homolog (yeast)						cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		AGGGCAATTCGTGTCATGTAG	0.368													79	94					0	0	1	0	0	A	152292042	G	A	152292042	2	1	81	1	0	0	0	0	0	0	0	1	13409	1132	40	1		1	RIF1	2	152292042	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2748158	152292042	90907331	2190	5806											
RIF1	55183	broad.mit.edu	37	2	152293769	152293769	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:152293769C>T	ENST00000243326.5	+	12	1870	c.1387C>T	c.(1387-1389)Ccg>Tcg	p.P463S	RIF1_ENST00000430328.2_Missense_Mutation_p.P463S|RIF1_ENST00000433166.2_3'UTR|RIF1_ENST00000428287.2_Missense_Mutation_p.P463S|RIF1_ENST00000453091.2_Missense_Mutation_p.P463S|RIF1_ENST00000444746.2_Missense_Mutation_p.P463S			Q5UIP0	RIF1_HUMAN	RAP1 interacting factor homolog (yeast)						cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		ATTGGAACATCCGTTAATCAG	0.338													5	69					0	0	1	0	0	T	152293769	C	T	152293769	3	4	81	1	0	0	0	0	1	0	0	0	13409	855	30	2	1433	2	RIF1	2	152293769	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1727	152293769	90905604	2191	5807											
RIF1	55183	broad.mit.edu	37	2	152293842	152293842	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:152293842T>C	ENST00000243326.5	+	12	1943	c.1460T>C	c.(1459-1461)gTt>gCt	p.V487A	RIF1_ENST00000430328.2_Missense_Mutation_p.V487A|RIF1_ENST00000433166.2_3'UTR|RIF1_ENST00000428287.2_Missense_Mutation_p.V487A|RIF1_ENST00000453091.2_Missense_Mutation_p.V487A|RIF1_ENST00000444746.2_Missense_Mutation_p.V487A			Q5UIP0	RIF1_HUMAN	RAP1 interacting factor homolog (yeast)						cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		GATAGCTTTGTTGCAGTTGGA	0.388													4	78					0	0	1	0	0	C	152293842	T	C	152293842	3	2	81	1	0	0	0	0	1	0	0	0	13409	1725	60	3	1506	3	RIF1	2	152293842	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	73	152293842	90905531	2192	5808											
NEB	4703	broad.mit.edu	37	2	152410491	152410491	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:152410491C>T	ENST00000427231.2	-	126	19679	c.19477G>A	c.(19477-19479)Gtg>Atg	p.V6493M	NEB_ENST00000604864.1_Missense_Mutation_p.V6493M|NEB_ENST00000397345.3_Missense_Mutation_p.V6493M|NEB_ENST00000409198.1_Missense_Mutation_p.V4792M|NEB_ENST00000172853.10_Missense_Mutation_p.V4792M|NEB_ENST00000603639.1_Missense_Mutation_p.V6493M	NM_001164507.1|NM_001271208.1	NP_001157979|NP_001258137.1	P20929	NEBU_HUMAN	nebulin	4792	Interaction with SVIL.				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		ATGTCGGGCACGATGTGGATT	0.458													40	88					0	0	1	0	0	T	152410491	C	T	152410491	3	4	81	1	0	0	0	0	1	0	0	0	10349	536	19	1	6437	1	NEB	2	152410491	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	116649	152410491	90788882	2193	5809											
NEB	4703	broad.mit.edu	37	2	152422294	152422294	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:152422294C>T	ENST00000427231.2	-	115	18399	c.18197G>A	c.(18196-18198)gGc>gAc	p.G6066D	NEB_ENST00000604864.1_Missense_Mutation_p.G6066D|NEB_ENST00000397345.3_Missense_Mutation_p.G6066D|NEB_ENST00000409198.1_Missense_Mutation_p.G4365D|NEB_ENST00000172853.10_Missense_Mutation_p.G4365D|NEB_ENST00000603639.1_Missense_Mutation_p.G6066D	NM_001164507.1|NM_001271208.1	NP_001157979|NP_001258137.1	P20929	NEBU_HUMAN	nebulin	6060					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TGGGATCCAGCCAATGCCTCG	0.478													4	9					0	0	1	0	0	T	152422294	C	T	152422294	3	4	81	1	0	0	0	0	1	0	0	0	10349	739	26	2	7761	2	NEB	2	152422294	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	11803	152422294	90777079	2194	5810											
NEB	4703	broad.mit.edu	37	2	152423688	152423688	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:152423688C>A	ENST00000427231.2	-	114	18352	c.18150G>T	c.(18148-18150)caG>caT	p.Q6050H	NEB_ENST00000604864.1_Missense_Mutation_p.Q6050H|NEB_ENST00000397345.3_Missense_Mutation_p.Q6050H|NEB_ENST00000409198.1_Missense_Mutation_p.Q4349H|NEB_ENST00000172853.10_Missense_Mutation_p.Q4349H|NEB_ENST00000603639.1_Missense_Mutation_p.Q6050H	NM_001164507.1|NM_001271208.1	NP_001157979|NP_001258137.1	P20929	NEBU_HUMAN	nebulin	6044					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	p.Q4349Q(1)|p.Q6050Q(1)		NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TTACATCACTCTGTAGGTCAT	0.398													10	98					6.40141e-05	7.07494e-05	1	1	0	A	152423688	C	A	152423688	3	1	81	1	0	0	0	0	1	0	0	0	10349	912	32	4	7812	4	NEB	2	152423688	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1394	152423688	90775685	2195	5811											
NEB	4703	broad.mit.edu	37	2	152476093	152476093	+	Missense_Mutation	SNP	C	C	T	rs139798654	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:152476093C>T	ENST00000427231.2	-	73	10946	c.10744G>A	c.(10744-10746)Gtt>Att	p.V3582I	NEB_ENST00000604864.1_Missense_Mutation_p.V3582I|NEB_ENST00000397345.3_Missense_Mutation_p.V3582I|NEB_ENST00000409198.1_Missense_Mutation_p.V3339I|NEB_ENST00000172853.10_Missense_Mutation_p.V3339I|NEB_ENST00000603639.1_Missense_Mutation_p.V3582I	NM_001164507.1|NM_001271208.1	NP_001157979|NP_001258137.1	P20929	NEBU_HUMAN	nebulin	3582					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TTGGCCAAAACGATACCAAGC	0.478													33	36					0	0	1	0	0	T	152476093	C	T	152476093	3	4	81	1	0	0	0	0	1	0	0	0	10349	536	19	1	15382	1	NEB	2	152476093	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	52405	152476093	90723280	2196	5812											
NEB	4703	broad.mit.edu	37	2	152497084	152497084	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:152497084C>T	ENST00000427231.2	-	61	8672	c.8470G>A	c.(8470-8472)Gcc>Acc	p.A2824T	NEB_ENST00000604864.1_Missense_Mutation_p.A2824T|NEB_ENST00000397345.3_Missense_Mutation_p.A2824T|NEB_ENST00000409198.1_Missense_Mutation_p.A2824T|NEB_ENST00000172853.10_Missense_Mutation_p.A2824T|NEB_ENST00000603639.1_Missense_Mutation_p.A2824T	NM_001164507.1|NM_001271208.1	NP_001157979|NP_001258137.1	P20929	NEBU_HUMAN	nebulin	2824					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TGGATCTTGGCCACGTGCATG	0.527													111	169					0	0	1	0	0	T	152497084	C	T	152497084	3	4	81	1	0	0	0	0	1	0	0	0	10349	739	26	2	17704	2	NEB	2	152497084	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	20991	152497084	90702289	2197	5813											
NEB	4703	broad.mit.edu	37	2	152506778	152506778	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:152506778C>T	ENST00000427231.2	-	54	7545	c.7343G>A	c.(7342-7344)cGt>cAt	p.R2448H	NEB_ENST00000604864.1_Missense_Mutation_p.R2448H|NEB_ENST00000397345.3_Missense_Mutation_p.R2448H|NEB_ENST00000409198.1_Missense_Mutation_p.R2448H|NEB_ENST00000172853.10_Missense_Mutation_p.R2448H|NEB_ENST00000603639.1_Missense_Mutation_p.R2448H	NM_001164507.1|NM_001271208.1	NP_001157979|NP_001258137.1	P20929	NEBU_HUMAN	nebulin	2448					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TGGAGGCTGACGATATTTCTT	0.463													29	47					0	0	1	0	0	T	152506778	C	T	152506778	3	4	81	1	0	0	0	0	1	0	0	0	10349	536	19	1	18859	1	NEB	2	152506778	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	9694	152506778	90692595	2198	5814	22	2									
NEB	4703	broad.mit.edu	37	2	152506786	152506786	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:152506786C>A	ENST00000427231.2	-	54	7537	c.7335G>T	c.(7333-7335)aaG>aaT	p.K2445N	NEB_ENST00000604864.1_Missense_Mutation_p.K2445N|NEB_ENST00000397345.3_Missense_Mutation_p.K2445N|NEB_ENST00000409198.1_Missense_Mutation_p.K2445N|NEB_ENST00000172853.10_Missense_Mutation_p.K2445N|NEB_ENST00000603639.1_Missense_Mutation_p.K2445N	NM_001164507.1|NM_001271208.1	NP_001157979|NP_001258137.1	P20929	NEBU_HUMAN	nebulin	2445					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GACGATATTTCTTCTCACTGA	0.448													8	73					1.12685e-05	1.27052e-05	1	1	0	A	152506786	C	A	152506786	3	1	81	1	0	0	0	0	1	0	0	0	10349	912	32	4	18867	4	NEB	2	152506786	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	8	152506786	90692587	2199	5815	22	2									
NEB	4703	broad.mit.edu	37	2	152507377	152507377	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:152507377C>T	ENST00000427231.2	-	53	7140	c.6938G>A	c.(6937-6939)cGa>cAa	p.R2313Q	NEB_ENST00000604864.1_Missense_Mutation_p.R2313Q|NEB_ENST00000397345.3_Missense_Mutation_p.R2313Q|NEB_ENST00000409198.1_Missense_Mutation_p.R2313Q|NEB_ENST00000172853.10_Missense_Mutation_p.R2313Q|NEB_ENST00000603639.1_Missense_Mutation_p.R2313Q	NM_001164507.1|NM_001271208.1	NP_001157979|NP_001258137.1	P20929	NEBU_HUMAN	nebulin	2313					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		AAGTTGCTTTCGGTAGCCTTG	0.393													56	84					0	0	1	0	0	T	152507377	C	T	152507377	3	4	81	1	0	0	0	0	1	0	0	0	10349	884	31	1	19268	1	NEB	2	152507377	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	591	152507377	90691996	2200	5816											
NEB	4703	broad.mit.edu	37	2	152534196	152534196	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:152534196G>A	ENST00000427231.2	-	34	3859	c.3657C>T	c.(3655-3657)gcC>gcT	p.A1219A	NEB_ENST00000604864.1_Silent_p.A1219A|NEB_ENST00000397345.3_Silent_p.A1219A|NEB_ENST00000409198.1_Silent_p.A1219A|NEB_ENST00000172853.10_Silent_p.A1219A|NEB_ENST00000603639.1_Silent_p.A1219A	NM_001164507.1|NM_001271208.1	NP_001157979|NP_001258137.1	P20929	NEBU_HUMAN	nebulin	1219					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GAGCATCACCGGCCTTTTTAA	0.453													61	133					0	0	1	0	0	A	152534196	G	A	152534196	2	1	81	1	0	0	0	0	0	0	0	1	10349	1103	39	1		1	NEB	2	152534196	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	26819	152534196	90665177	2201	5817											
NEB	4703	broad.mit.edu	37	2	152581430	152581430	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:152581430C>T	ENST00000427231.2	-	7	650	c.448G>A	c.(448-450)Gta>Ata	p.V150I	NEB_ENST00000604864.1_Missense_Mutation_p.V150I|NEB_ENST00000397345.3_Missense_Mutation_p.V150I|NEB_ENST00000409198.1_Missense_Mutation_p.V150I|NEB_ENST00000172853.10_Missense_Mutation_p.V150I|NEB_ENST00000603639.1_Missense_Mutation_p.V150I	NM_001164507.1|NM_001271208.1	NP_001157979|NP_001258137.1	P20929	NEBU_HUMAN	nebulin	150					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TTTTCATCTACGTGACATATA	0.408													14	26					0	0	1	0	0	T	152581430	C	T	152581430	3	4	81	1	0	0	0	0	1	0	0	0	10349	536	19	1	25942	1	NEB	2	152581430	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	47234	152581430	90617943	2202	5818											
CACNB4	785	broad.mit.edu	37	2	152729007	152729007	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:152729007C>T	ENST00000360283.6	-	5	677	c.420G>A	c.(418-420)ggG>ggA	p.G140G	CACNB4_ENST00000427385.1_Splice_Site_p.G156G|CACNB4_ENST00000397327.2_Splice_Site_p.G127G|CACNB4_ENST00000539935.1_Splice_Site_p.G174G|CACNB4_ENST00000534999.1_Splice_Site_p.G140G|CACNB4_ENST00000201943.5_Splice_Site_p.G174G			O00305	CACB4_HUMAN	calcium channel, voltage-dependent, beta 4 subunit	174	SH3.				axon guidance|membrane depolarization|synaptic transmission	cytosol|internal side of plasma membrane|plasma membrane|synapse|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11				BRCA - Breast invasive adenocarcinoma(221;0.156)	Verapamil(DB00661)	CACTTGATTTCCTAGGATATA	0.383													27	44					0	0	1	0	0	T	152729007	C	T	152729007	5	4	81	1	0	0	0	0	0	0	1	0	2573	869	30	2	1076	2	CACNB4	2	152729007	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	147577	152729007	90470366	2203	5819											
STAM2	10254	broad.mit.edu	37	2	152977162	152977162	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:152977162C>A	ENST00000263904.4	-	14	1853	c.1504G>T	c.(1504-1506)Ggc>Tgc	p.G502C		NM_005843.4	NP_005834.4	O75886	STAM2_HUMAN	signal transducing adaptor molecule (SH3 domain and ITAM motif) 2	502					cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway	cytosol|early endosome membrane	protein binding			endometrium(3)|large_intestine(4)|lung(8)|ovary(1)	16				BRCA - Breast invasive adenocarcinoma(221;0.22)		ACCGGAAAGCCTGCCAGTTGA	0.448													34	51					1.90571e-15	2.43162e-15	1	1	0	A	152977162	C	A	152977162	3	1	81	1	0	0	0	0	1	0	0	0	15305	681	24	4	77	4	STAM2	2	152977162	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	248155	152977162	90222211	2204	5820											
STAM2	10254	broad.mit.edu	37	2	152988660	152988660	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:152988660T>C	ENST00000263904.4	-	11	1342	c.993A>G	c.(991-993)ccA>ccG	p.P331P		NM_005843.4	NP_005834.4	O75886	STAM2_HUMAN	signal transducing adaptor molecule (SH3 domain and ITAM motif) 2	331					cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway	cytosol|early endosome membrane	protein binding			endometrium(3)|large_intestine(4)|lung(8)|ovary(1)	16				BRCA - Breast invasive adenocarcinoma(221;0.22)		CATCTATCATTGGACCCATCT	0.313													23	28					0	0	1	0	0	C	152988660	T	C	152988660	2	2	81	1	0	0	0	0	0	0	0	1	15305	1799	63	3		3	STAM2	2	152988660	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	11498	152988660	90210713	2205	5821											
STAM2	10254	broad.mit.edu	37	2	153000472	153000472	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:153000472T>C	ENST00000263904.4	-	7	922	c.573A>G	c.(571-573)ttA>ttG	p.L191L	STAM2_ENST00000465460.1_5'UTR	NM_005843.4	NP_005834.4	O75886	STAM2_HUMAN	signal transducing adaptor molecule (SH3 domain and ITAM motif) 2	191					cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway	cytosol|early endosome membrane	protein binding			endometrium(3)|large_intestine(4)|lung(8)|ovary(1)	16				BRCA - Breast invasive adenocarcinoma(221;0.22)		AAGATGGATATAAGGATTTTG	0.318													17	29					0	0	1	0	0	C	153000472	T	C	153000472	2	2	81	1	0	0	0	0	0	0	0	1	15305	1403	49	3		3	STAM2	2	153000472	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	11812	153000472	90198901	2206	5822											
ARL6IP6	151188	broad.mit.edu	37	2	153591515	153591515	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:153591515G>A	ENST00000326446.5	+	3	1173	c.462G>A	c.(460-462)tgG>tgA	p.W154*	ARL6IP6_ENST00000463690.1_3'UTR	NM_152522.5	NP_689735.1	Q8N6S5	AR6P6_HUMAN	ADP-ribosylation-like factor 6 interacting protein 6	154						integral to membrane				kidney(1)|large_intestine(1)|lung(2)|pancreas(1)	5						AAGGATTCTGGACTCTACTTA	0.353													37	99					0	0	1	0	0	A	153591515	G	A	153591515	4	1	81	1	0	0	0	0	0	1	0	0	944	1183	41	2	472	2	ARL6IP6	2	153591515	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	591043	153591515	89607858	2207	5823											
GALNT13	114805	broad.mit.edu	37	2	155098658	155098658	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:155098658C>T	ENST00000392825.3	+	5	994	c.427C>T	c.(427-429)Cca>Tca	p.P143S	GALNT13_ENST00000409237.1_Missense_Mutation_p.P143S	NM_052917.2	NP_443149.2	Q8IUC8	GLT13_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)	143	Catalytic subdomain A.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						AAATCGTTCCCCACACTATCT	0.373													4	81					0	0	1	0	0	T	155098658	C	T	155098658	3	4	81	1	0	0	0	0	1	0	0	0	6251	623	22	2	437	2	GALNT13	2	155098658	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1507143	155098658	88100715	2208	5824											
GALNT13	114805	broad.mit.edu	37	2	155307045	155307045	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:155307045C>T	ENST00000392825.3	+	13	2220	c.1653C>T	c.(1651-1653)aaC>aaT	p.N551N	GALNT13_ENST00000409237.1_3'UTR|AC009227.2_ENST00000434635.1_RNA	NM_052917.2	NP_443149.2	Q8IUC8	GLT13_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)	551						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						TGCTAAGGAACATGACCTTGG	0.428													5	27					0	0	1	0	0	T	155307045	C	T	155307045	2	4	81	1	0	0	0	0	0	0	0	1	6251	477	17	2		2	GALNT13	2	155307045	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	208387	155307045	87892328	2209	5825											
KCNJ3	3760	broad.mit.edu	37	2	155711428	155711428	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:155711428C>A	ENST00000295101.2	+	3	1586	c.1109C>A	c.(1108-1110)cCt>cAt	p.P370H	KCNJ3_ENST00000493505.1_3'UTR|KCNJ3_ENST00000544049.1_3'UTR	NM_001260509.1|NM_002239.3	NP_001247438.1|NP_002230.1	P48549	IRK3_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 3	370					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	54					Halothane(DB01159)	ATGTCGTCCCCTTTAATAGCA	0.408													9	122					3.09899e-07	3.60815e-07	1	1	0	A	155711428	C	A	155711428	3	1	81	1	0	0	0	0	1	0	0	0	8096	681	24	4	1119	4	KCNJ3	2	155711428	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	404383	155711428	87487945	2210	5826											
NR4A2	4929	broad.mit.edu	37	2	157184975	157184975	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:157184975C>T	ENST00000339562.4	-	4	1297	c.935G>A	c.(934-936)cGg>cAg	p.R312Q	NR4A2_ENST00000429376.1_Missense_Mutation_p.R249Q|NR4A2_ENST00000426264.1_Missense_Mutation_p.R249Q|NR4A2_ENST00000409572.1_Missense_Mutation_p.R312Q|NR4A2_ENST00000539077.1_Missense_Mutation_p.R323Q|NR4A2_ENST00000409108.2_Missense_Mutation_p.R312Q	NM_006186.3	NP_006177.1	P43354	NR4A2_HUMAN	nuclear receptor subfamily 4, group A, member 2	312					cellular response to extracellular stimulus|dopaminergic neuron differentiation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus	nucleoplasm	sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	p.R312Q(1)		breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	40						ACAGCGATTCCGGCGACGCTT	0.493													24	37					0	0	1	0	0	T	157184975	C	T	157184975	3	4	81	1	0	0	0	0	1	0	0	0	10681	652	23	1	881	1	NR4A2	2	157184975	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1473547	157184975	86014398	2211	5827											
GALNT5	11227	broad.mit.edu	37	2	158114767	158114767	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:158114767G>T	ENST00000259056.4	+	1	658	c.173G>T	c.(172-174)aGa>aTa	p.R58I		NM_014568.1	NP_055383.1	Q7Z7M9	GALT5_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5)	58					glycosaminoglycan biosynthetic process	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(4)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	56						ATAGGATTCAGAGTTCAGCCA	0.488													58	92					8.77104e-35	1.17431e-34	1	1	0	T	158114767	G	T	158114767	3	4	81	1	0	0	0	0	1	0	0	0	6256	942	33	4	175	4	GALNT5	2	158114767	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	929792	158114767	85084606	2212	5828											
ERMN	57471	broad.mit.edu	37	2	158178124	158178124	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:158178124G>A	ENST00000410096.1	-	3	805	c.514C>T	c.(514-516)Cat>Tat	p.H172Y	ERMN_ENST00000420719.2_Missense_Mutation_p.H152Y|ERMN_ENST00000535935.1_Missense_Mutation_p.H66Y|ERMN_ENST00000397283.2_Missense_Mutation_p.H185Y	NM_020711.1	NP_065762.1	Q8TAM6	ERMIN_HUMAN	ermin, ERM-like protein	172						cytoplasm|cytoskeleton				endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12						TGTTTAGAATGTAACATGTCA	0.398													38	95					0	0	1	0	0	A	158178124	G	A	158178124	3	1	81	1	0	0	0	0	1	0	0	0	5263	1377	48	2	344	2	ERMN	2	158178124	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	63357	158178124	85021249	2213	5829											
ACVR1C	130399	broad.mit.edu	37	2	158395160	158395160	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:158395160C>T	ENST00000243349.8	-	8	1641	c.1281G>A	c.(1279-1281)tcG>tcA	p.S427S	ACVR1C_ENST00000335450.7_Silent_p.S347S|ACVR1C_ENST00000348328.5_Silent_p.S270S|ACVR1C_ENST00000409680.3_Silent_p.S377S	NM_001111032.1|NM_145259.2	NP_001104502.1|NP_660302.2	Q8NER5	ACV1C_HUMAN	activin A receptor, type IC		Protein kinase.				apoptosis|cell differentiation|regulation of apoptosis	activin receptor complex	activin receptor activity, type I|ATP binding|transforming growth factor beta receptor activity	p.S427S(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	42						TTTCCTCTATCGAGGGATCTG	0.363													31	62					0	0	1	0	0	T	158395160	C	T	158395160	2	4	81	1	0	0	0	0	0	0	0	1	221	871	31	1		1	ACVR1C	2	158395160	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	217036	158395160	84804213	2214	5830											
ACVR1	90	broad.mit.edu	37	2	158594104	158594104	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:158594104C>T	ENST00000263640.3	-	11	1898	c.1469G>A	c.(1468-1470)cGt>cAt	p.R490H	ACVR1_ENST00000434821.1_Missense_Mutation_p.R490H|ACVR1_ENST00000409283.2_Missense_Mutation_p.R490H|ACVR1_ENST00000410057.2_Missense_Mutation_p.R490H	NM_001105.4	NP_001096.1	Q04771	ACVR1_HUMAN	activin A receptor, type I	490	Protein kinase.				BMP signaling pathway|G1/S transition of mitotic cell cycle|negative regulation of activin receptor signaling pathway|negative regulation of apoptosis|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	activin receptor complex	activin binding|ATP binding|follistatin binding|metal ion binding|protein homodimerization activity|SMAD binding|transforming growth factor beta binding			endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(2)	19				BRCA - Breast invasive adenocarcinoma(221;0.104)	Adenosine triphosphate(DB00171)	CTTTTTGATACGCAGTGCTGT	0.393													35	35					0	0	1	0	0	T	158594104	C	T	158594104	3	4	81	1	0	0	0	0	1	0	0	0	219	536	19	1	64	1	ACVR1	2	158594104	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	198944	158594104	84605269	2215	5831											
ACVR1	90	broad.mit.edu	37	2	158622483	158622483	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:158622483C>A	ENST00000263640.3	-	8	1445	c.1016G>T	c.(1015-1017)aGc>aTc	p.S339I	ACVR1_ENST00000434821.1_Missense_Mutation_p.S339I|ACVR1_ENST00000409283.2_Missense_Mutation_p.S339I|ACVR1_ENST00000410057.2_Missense_Mutation_p.S339I	NM_001105.4	NP_001096.1	Q04771	ACVR1_HUMAN	activin A receptor, type I	339	Protein kinase.				BMP signaling pathway|G1/S transition of mitotic cell cycle|negative regulation of activin receptor signaling pathway|negative regulation of apoptosis|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	activin receptor complex	activin binding|ATP binding|follistatin binding|metal ion binding|protein homodimerization activity|SMAD binding|transforming growth factor beta binding			endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(2)	19				BRCA - Breast invasive adenocarcinoma(221;0.104)	Adenosine triphosphate(DB00171)	AATATTTTTGCTCTTTAAATC	0.368													8	65					0.0477658	0.0487066	1	1	0	A	158622483	C	A	158622483	3	1	81	1	0	0	0	0	1	0	0	0	219	797	28	4	529	4	ACVR1	2	158622483	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	28379	158622483	84576890	2216	5832											
ACVR1	90	broad.mit.edu	37	2	158630609	158630609	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:158630609C>T	ENST00000263640.3	-	6	1063	c.634G>A	c.(634-636)Gag>Aag	p.E212K	ACVR1_ENST00000434821.1_Missense_Mutation_p.E212K|ACVR1_ENST00000409283.2_Missense_Mutation_p.E212K|ACVR1_ENST00000410057.2_Missense_Mutation_p.E212K	NM_001105.4	NP_001096.1	Q04771	ACVR1_HUMAN	activin A receptor, type I	212	Protein kinase.				BMP signaling pathway|G1/S transition of mitotic cell cycle|negative regulation of activin receptor signaling pathway|negative regulation of apoptosis|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	activin receptor complex	activin binding|ATP binding|follistatin binding|metal ion binding|protein homodimerization activity|SMAD binding|transforming growth factor beta binding			endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(2)	19				BRCA - Breast invasive adenocarcinoma(221;0.104)	Adenosine triphosphate(DB00171)	CCGACACACTCCAACAGTGTA	0.378													25	33					0	0	1	0	0	T	158630609	C	T	158630609	3	4	81	1	0	0	0	0	1	0	0	0	219	864	30	2	919	2	ACVR1	2	158630609	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	8126	158630609	84568764	2217	5833											
UPP2	151531	broad.mit.edu	37	2	158971709	158971709	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:158971709G>T	ENST00000605860.1	+	6	494	c.448G>T	c.(448-450)Gac>Tac	p.D150Y	UPP2_ENST00000460456.1_Intron|UPP2_ENST00000005756.4_Missense_Mutation_p.D93Y|UPP2_ENST00000409859.4_Missense_Mutation_p.D150Y			O95045	UPP2_HUMAN	uridine phosphorylase 2	93					nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage|uridine metabolic process	cytosol|type III intermediate filament	uridine phosphorylase activity			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31						AGACATAAAAGACATCTGTGC	0.473													31	34					1.08312e-15	1.38358e-15	1	1	0	T	158971709	G	T	158971709	3	4	81	1	0	0	0	0	1	0	0	0	17073	942	33	4	466	4	UPP2	2	158971709	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	341100	158971709	84227664	2218	5834											
UPP2	151531	broad.mit.edu	37	2	158991263	158991263	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:158991263C>T	ENST00000605860.1	+	10	1032	c.986C>T	c.(985-987)gCt>gTt	p.A329V	UPP2_ENST00000460456.1_3'UTR|UPP2_ENST00000005756.4_Missense_Mutation_p.A272V|UPP2_ENST00000409859.4_Missense_Mutation_p.A329V			O95045	UPP2_HUMAN	uridine phosphorylase 2	272					nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage|uridine metabolic process	cytosol|type III intermediate filament	uridine phosphorylase activity			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31						CTTCTAGCTGCTGTGGTCTGT	0.468													7	50					0	0	1	0	0	T	158991263	C	T	158991263	3	4	81	1	0	0	0	0	1	0	0	0	17073	797	28	2	1020	2	UPP2	2	158991263	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	19554	158991263	84208110	2219	5835											
CCDC148	130940	broad.mit.edu	37	2	159195527	159195527	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:159195527T>G	ENST00000283233.5	-	6	870	c.557A>C	c.(556-558)aAt>aCt	p.N186T	CCDC148_ENST00000409187.1_Missense_Mutation_p.N195T|CCDC148_ENST00000409889.1_Missense_Mutation_p.N186T|CCDC148_ENST00000536771.1_Missense_Mutation_p.N100T	NM_138803.3	NP_620158.3	Q8NFR7	CC148_HUMAN	coiled-coil domain containing 148	186										endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						TGAAAGATCATTTTCTATTCT	0.313													12	101					0	0	1	0	0	G	159195527	T	G	159195527	3	3	81	1	0	0	0	0	1	0	0	0	2800	1493	52	4	1306	4	CCDC148	2	159195527	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	204264	159195527	84003846	2220	5836											
PKP4	8502	broad.mit.edu	37	2	159536950	159536950	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:159536950C>A	ENST00000389757.3	+	21	3336	c.3211C>A	c.(3211-3213)Ctg>Atg	p.L1071M	PKP4_ENST00000389759.3_Missense_Mutation_p.L1114M|AC005042.4_ENST00000442666.1_RNA|AC005042.4_ENST00000342892.4_RNA	NM_001005476.1	NP_001005476.1	Q99569	PKP4_HUMAN	plakophilin 4	1114					cell adhesion	desmosome	protein binding			breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	61						GCATCAACAGCTGTATTATAG	0.328										HNSCC(62;0.18)			33	67					2.42023e-17	3.11933e-17	1	1	0	A	159536950	C	A	159536950	3	1	81	1	0	0	0	0	1	0	0	0	12035	796	28	4	3422	4	PKP4	2	159536950	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	341423	159536950	83662423	2221	5837											
TANC1	85461	broad.mit.edu	37	2	160027192	160027192	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:160027192C>T	ENST00000263635.6	+	10	1464	c.1227C>T	c.(1225-1227)ggC>ggT	p.G409G	TANC1_ENST00000454300.1_Silent_p.G303G	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	409						cell junction|postsynaptic density|postsynaptic membrane	binding			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						AAAACAGAGGCGCGGTGGTGG	0.507													28	29					0	0	1	0	0	T	160027192	C	T	160027192	2	4	81	1	0	0	0	0	0	0	0	1	15601	755	27	1		1	TANC1	2	160027192	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	490242	160027192	83172181	2222	5838											
TANC1	85461	broad.mit.edu	37	2	160028716	160028716	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:160028716C>A	ENST00000263635.6	+	11	1673	c.1436C>A	c.(1435-1437)cCt>cAt	p.P479H	TANC1_ENST00000454300.1_Missense_Mutation_p.P373H	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	479						cell junction|postsynaptic density|postsynaptic membrane	binding			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						GCTAAAACACCTCTTGGGTCT	0.463													5	47					0.000602214	0.000646338	1	1	0	A	160028716	C	A	160028716	3	1	81	1	0	0	0	0	1	0	0	0	15601	681	24	4	1470	4	TANC1	2	160028716	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1524	160028716	83170657	2223	5839											
TANC1	85461	broad.mit.edu	37	2	160035532	160035532	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:160035532G>T	ENST00000263635.6	+	14	2605	c.2368G>T	c.(2368-2370)Gac>Tac	p.D790Y	TANC1_ENST00000454300.1_Missense_Mutation_p.D684Y	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	790						cell junction|postsynaptic density|postsynaptic membrane	binding			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						GGGATGGGAAGACTTTCAGCA	0.562													9	147					2.17888e-05	2.43576e-05	1	1	0	T	160035532	G	T	160035532	3	4	81	1	0	0	0	0	1	0	0	0	15601	942	33	4	2414	4	TANC1	2	160035532	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	6816	160035532	83163841	2224	5840											
TANC1	85461	broad.mit.edu	37	2	160055501	160055501	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:160055501C>T	ENST00000263635.6	+	19	3418	c.3181C>T	c.(3181-3183)Ctg>Ttg	p.L1061L	TANC1_ENST00000454300.1_Silent_p.L955L	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	1061						cell junction|postsynaptic density|postsynaptic membrane	binding			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						CCAGTGCTTGCTGGGGATGGA	0.463													11	29					0	0	1	0	0	T	160055501	C	T	160055501	2	4	81	1	0	0	0	0	0	0	0	1	15601	796	28	2		2	TANC1	2	160055501	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	19969	160055501	83143872	2225	5841											
TANC1	85461	broad.mit.edu	37	2	160074022	160074022	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:160074022G>A	ENST00000263635.6	+	20	3496	c.3259G>A	c.(3259-3261)Gca>Aca	p.A1087T	TANC1_ENST00000454300.1_Missense_Mutation_p.A981T	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	1087						cell junction|postsynaptic density|postsynaptic membrane	binding			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						GACTGCCGCCGCAGGAAGAGG	0.552													42	82					0	0	1	0	0	A	160074022	G	A	160074022	3	1	81	1	0	0	0	0	1	0	0	0	15601	1087	38	1	3329	1	TANC1	2	160074022	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	18521	160074022	83125351	2226	5842											
WDSUB1	151525	broad.mit.edu	37	2	160092648	160092648	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:160092648G>A	ENST00000409990.3	-	11	1583	c.1327C>T	c.(1327-1329)Cgt>Tgt	p.R443C	WDSUB1_ENST00000392796.3_Missense_Mutation_p.R443C|WDSUB1_ENST00000359774.4_Missense_Mutation_p.R443C|WDSUB1_ENST00000358147.4_Missense_Mutation_p.R351C|WDSUB1_ENST00000409124.1_Missense_Mutation_p.R396C	NM_001128213.1	NP_001121685	Q8N9V3	WSDU1_HUMAN	WD repeat, sterile alpha motif and U-box domain containing 1	443	U-box.					ubiquitin ligase complex	ubiquitin-protein ligase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(3)|prostate(1)|stomach(3)	16						GGACTTGTACGTTTCTTTTTG	0.363													15	24					0	0	1	0	0	A	160092648	G	A	160092648	3	1	81	1	0	0	0	0	1	0	0	0	17401	1145	40	1	107	1	WDSUB1	2	160092648	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	18626	160092648	83106725	2227	5843											
WDSUB1	151525	broad.mit.edu	37	2	160136380	160136380	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:160136380A>T	ENST00000409990.3	-	3	731	c.475T>A	c.(475-477)Tca>Aca	p.S159T	WDSUB1_ENST00000392796.3_Missense_Mutation_p.S159T|WDSUB1_ENST00000359774.4_Missense_Mutation_p.S159T|WDSUB1_ENST00000358147.4_Missense_Mutation_p.S159T|WDSUB1_ENST00000409124.1_Missense_Mutation_p.S159T	NM_001128213.1	NP_001121685	Q8N9V3	WSDU1_HUMAN	WD repeat, sterile alpha motif and U-box domain containing 1	159						ubiquitin ligase complex	ubiquitin-protein ligase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(3)|prostate(1)|stomach(3)	16						TCACCACATGAGGAGCCAGTG	0.428													5	37					0	0	1	0	0	T	160136380	A	T	160136380	3	4	81	1	0	0	0	0	1	0	0	0	17401	304	11	5	991	5	WDSUB1	2	160136380	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	43732	160136380	83062993	2228	5844											
BAZ2B	29994	broad.mit.edu	37	2	160229666	160229666	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:160229666G>A	ENST00000392783.2	-	27	4598	c.4103C>T	c.(4102-4104)gCg>gTg	p.A1368V	BAZ2B_ENST00000392782.1_Missense_Mutation_p.A1332V|BAZ2B_ENST00000343439.5_Missense_Mutation_p.A1268V|BAZ2B_ENST00000355831.2_Missense_Mutation_p.A1334V	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	1368					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						TGAGTGAGACGCATCAAAGAG	0.398													38	46					0	0	1	0	0	A	160229666	G	A	160229666	3	1	81	1	0	0	0	0	1	0	0	0	1330	1087	38	1	2447	1	BAZ2B	2	160229666	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	93286	160229666	82969707	2229	5845											
BAZ2B	29994	broad.mit.edu	37	2	160239235	160239235	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:160239235G>T	ENST00000392783.2	-	25	4335	c.3840C>A	c.(3838-3840)ccC>ccA	p.P1280P	BAZ2B_ENST00000392782.1_Silent_p.P1244P|BAZ2B_ENST00000343439.5_Silent_p.P1180P|BAZ2B_ENST00000355831.2_Silent_p.P1246P	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	1280					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						GTGTGCCCAAGGGATGCTGCT	0.463													4	42					2.56e-06	2.92664e-06	1	1	0	T	160239235	G	T	160239235	2	4	81	1	0	0	0	0	0	0	0	1	1330	987	35	4		4	BAZ2B	2	160239235	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	9569	160239235	82960138	2230	5846											
MARCH7	64844	broad.mit.edu	37	2	160599690	160599690	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:160599690G>T	ENST00000259050.4	+	3	394	c.272G>T	c.(271-273)aGa>aTa	p.R91I	MARCH7_ENST00000409591.1_Missense_Mutation_p.R53I|MARCH7_ENST00000409175.1_Missense_Mutation_p.R91I|MARCH7_ENST00000539065.1_Missense_Mutation_p.R91I|MARCH7_ENST00000473749.1_3'UTR	NM_001282805.1|NM_001282807.1|NM_022826.2	NP_001269734.1|NP_001269736.1|NP_073737.1	Q9H992	MARH7_HUMAN	membrane-associated ring finger (C3HC4) 7, E3 ubiquitin protein ligase		Ser-rich.						ligase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(2)	18						GATTCAAAAAGACCTAAACTT	0.408													10	78					9.70103e-10	1.17698e-09	1	1	0	T	160599690	G	T	160599690	3	4	81	1	0	0	0	0	1	0	0	0	9356	942	33	4	278	4	MARCH7	2	160599690	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	360455	160599690	82599683	2231	5847											
MARCH7	64844	broad.mit.edu	37	2	160605353	160605353	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:160605353A>T	ENST00000259050.4	+	5	1674	c.1552A>T	c.(1552-1554)Agt>Tgt	p.S518C	MARCH7_ENST00000409591.1_Missense_Mutation_p.S480C|MARCH7_ENST00000409175.1_Missense_Mutation_p.S518C|MARCH7_ENST00000539065.1_Missense_Mutation_p.S462C	NM_001282805.1|NM_001282807.1|NM_022826.2	NP_001269734.1|NP_001269736.1|NP_073737.1	Q9H992	MARH7_HUMAN	membrane-associated ring finger (C3HC4) 7, E3 ubiquitin protein ligase								ligase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(2)	18						TGATGGTAAAAGTGATAAAAC	0.383													60	98					0	0	1	0	0	T	160605353	A	T	160605353	3	4	81	1	0	0	0	0	1	0	0	0	9356	72	3	5	1566	5	MARCH7	2	160605353	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	5663	160605353	82594020	2232	5848											
LY75	4065	broad.mit.edu	37	2	160750522	160750522	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:160750522A>C	ENST00000263636.4	-	3	567	c.540T>G	c.(538-540)caT>caG	p.H180Q	LY75-CD302_ENST00000505052.1_Missense_Mutation_p.H180Q|LY75-CD302_ENST00000504764.1_Missense_Mutation_p.H180Q|LY75_ENST00000553424.1_Missense_Mutation_p.H180Q|LY75_ENST00000554112.1_Missense_Mutation_p.H180Q	NM_002349.3	NP_002340.2			lymphocyte antigen 75											NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59				COAD - Colon adenocarcinoma(177;0.132)		TGCAATCATGATGCCAGGTCC	0.443													7	89					0	0	1	0	0	C	160750522	A	C	160750522	3	2	81	1	0	0	0	0	1	0	0	0	9145	330	12	4	4760	4	LY75	2	160750522	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	145169	160750522	82448851	2233	5849											
ITGB6	3694	broad.mit.edu	37	2	160964245	160964245	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:160964245T>C	ENST00000283249.2	-	14	2450	c.2213A>G	c.(2212-2214)gAt>gGt	p.D738G	ITGB6_ENST00000409967.2_Missense_Mutation_p.D631G|ITGB6_ENST00000428609.2_Missense_Mutation_p.D696G|ITGB6_ENST00000409872.1_Missense_Mutation_p.D738G	NM_001282353.1|NM_001282354.1|NM_001282388.1	NP_001269282.1|NP_001269283.1|NP_001269317.1	P18564	ITB6_HUMAN	integrin, beta 6	738	Interaction with HAX1.				cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|multicellular organismal development	integrin complex	receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						TTCTTTACGATCATGAAATGA	0.463													11	88					0	0	1	0	0	C	160964245	T	C	160964245	3	2	81	1	0	0	0	0	1	0	0	0	7943	1435	50	3	161	3	ITGB6	2	160964245	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	213723	160964245	82235128	2234	5850											
ITGB6	3694	broad.mit.edu	37	2	160993949	160993949	+	Silent	SNP	G	G	A	rs139038668		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:160993949G>A	ENST00000283249.2	-	10	1893	c.1656C>T	c.(1654-1656)tgC>tgT	p.C552C	ITGB6_ENST00000409967.2_Silent_p.C552C|ITGB6_ENST00000428609.2_Silent_p.C510C|ITGB6_ENST00000409872.1_Silent_p.C552C	NM_001282353.1|NM_001282354.1|NM_001282388.1	NP_001269282.1|NP_001269283.1|NP_001269317.1	P18564	ITB6_HUMAN	integrin, beta 6	552	Cysteine-rich tandem repeats.				cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|multicellular organismal development	integrin complex	receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						GCCTACCTCCGCAGAGCAGCC	0.517													26	35					0	0	1	0	0	A	160993949	G	A	160993949	2	1	81	1	0	0	0	0	0	0	0	1	7943	1079	38	1		1	ITGB6	2	160993949	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	29704	160993949	82205424	2235	5851											
ITGB6	3694	broad.mit.edu	37	2	160994116	160994116	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:160994116G>T	ENST00000283249.2	-	10	1726	c.1489C>A	c.(1489-1491)Ctg>Atg	p.L497M	ITGB6_ENST00000409967.2_Missense_Mutation_p.L497M|ITGB6_ENST00000428609.2_Missense_Mutation_p.L455M|ITGB6_ENST00000409872.1_Missense_Mutation_p.L497M	NM_001282353.1|NM_001282354.1|NM_001282388.1	NP_001269282.1|NP_001269283.1|NP_001269317.1	P18564	ITB6_HUMAN	integrin, beta 6	497	Cysteine-rich tandem repeats.				cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|multicellular organismal development	integrin complex	receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						TCTGTGCTCAGCATGTCCTCG	0.607													6	44					3.59834e-05	3.99423e-05	1	1	0	T	160994116	G	T	160994116	3	4	81	1	0	0	0	0	1	0	0	0	7943	962	34	4	901	4	ITGB6	2	160994116	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	167	160994116	82205257	2236	5852											
ITGB6	3694	broad.mit.edu	37	2	160998528	160998528	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:160998528C>T	ENST00000283249.2	-	8	1309	c.1072G>A	c.(1072-1074)Gga>Aga	p.G358R	ITGB6_ENST00000409967.2_Missense_Mutation_p.G358R|ITGB6_ENST00000428609.2_Missense_Mutation_p.G316R|ITGB6_ENST00000409872.1_Missense_Mutation_p.G358R|ITGB6_ENST00000485635.1_5'UTR	NM_001282353.1|NM_001282354.1|NM_001282388.1	NP_001269282.1|NP_001269283.1|NP_001269317.1	P18564	ITB6_HUMAN	integrin, beta 6	358	VWFA.				cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|multicellular organismal development	integrin complex	receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						AGAATGTTTCCGGAGTCCTTC	0.363													13	24					0	0	1	0	0	T	160998528	C	T	160998528	3	4	81	1	0	0	0	0	1	0	0	0	7943	661	23	1	1326	1	ITGB6	2	160998528	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	4412	160998528	82200845	2237	5853											
RBMS1	5937	broad.mit.edu	37	2	161159998	161159998	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:161159998G>A	ENST00000348849.3	-	5	833	c.403C>T	c.(403-405)Caa>Taa	p.Q135*	RBMS1_ENST00000409972.1_Splice_Site_p.Q102*|RBMS1_ENST00000392753.3_Splice_Site_p.Q135*|RBMS1_ENST00000474820.1_5'UTR|RBMS1_ENST00000409075.1_Splice_Site_p.Q102*|RBMS1_ENST00000409289.2_Splice_Site_p.Q102*	NM_002897.4|NM_016836.3	NP_002888.1|NP_058520.1	P29558	RBMS1_HUMAN	RNA binding motif, single stranded interacting protein 1	135	RRM 1.				DNA replication|RNA processing	nucleus	double-stranded DNA binding|nucleotide binding|protein binding|RNA binding|single-stranded DNA binding		PLA2R1/RBMS1(2)								TGTTCCTGTTGCTAAAACAGA	0.358													9	88					0	0	1	0	0	A	161159998	G	A	161159998	5	1	81	1	0	0	0	0	0	0	1	0	13200	1333	46	2	853	2	RBMS1	2	161159998	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	161470	161159998	82039375	2238	5854											
DPP4	1803	broad.mit.edu	37	2	162903928	162903928	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:162903928A>G	ENST00000360534.3	-	3	738	c.178T>C	c.(178-180)Tta>Cta	p.L60L		NM_001935.3	NP_001926.2	P27487	DPP4_HUMAN	dipeptidyl-peptidase 4	60					cell adhesion|endothelial cell migration|negative regulation of extracellular matrix disassembly|positive regulation of cell proliferation|proteolysis|regulation of cell-cell adhesion mediated by integrin|response to hypoxia|T cell activation|T cell costimulation	apical plasma membrane|cell surface|endocytic vesicle|extracellular region|integral to membrane|invadopodium membrane|lamellipodium membrane|membrane raft	aminopeptidase activity|dipeptidyl-peptidase activity|protease binding|protein homodimerization activity|receptor activity|receptor binding|serine-type endopeptidase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	48					Sitagliptin(DB01261)	ATCCATCTTAAGGAGTATAAC	0.368													16	35					0	0	1	0	0	G	162903928	A	G	162903928	2	3	81	1	0	0	0	0	0	0	0	1	4755	69	3	3		3	DPP4	2	162903928	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	1743930	162903928	80295445	2239	5855											
IFIH1	64135	broad.mit.edu	37	2	163136557	163136557	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:163136557G>A	ENST00000263642.2	-	8	1985	c.1590C>T	c.(1588-1590)aaC>aaT	p.N530N		NM_022168.3	NP_071451.2	Q9BYX4	IFIH1_HUMAN	interferon induced with helicase C domain 1	530					detection of virus|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|regulation of apoptosis	cytosol|nucleus	ATP binding|DNA binding|double-stranded RNA binding|helicase activity|protein binding|ribonucleoprotein binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	39						CCTGTATTTGGTTTTTCAGTT	0.328													24	33					0	0	1	0	0	A	163136557	G	A	163136557	2	1	81	1	0	0	0	0	0	0	0	1	7564	1252	44	2		2	IFIH1	2	163136557	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	232629	163136557	80062816	2240	5856											
GCA	25801	broad.mit.edu	37	2	163215567	163215567	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:163215567T>C	ENST00000437150.2	+	6	629	c.468T>C	c.(466-468)agT>agC	p.S156S	GCA_ENST00000233612.4_Silent_p.S137S|GCA_ENST00000429691.2_Intron	NM_012198.3	NP_036330.1	P28676	GRAN_HUMAN	grancalcin, EF-hand calcium binding protein	156	EF-hand 4.				cellular membrane fusion	cytoplasm|plasma membrane	calcium ion binding|protein homodimerization activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|lung(4)|ovary(1)	9						ATAGGTTGAGTCCTCAAACAT	0.303													39	70					0	0	1	0	0	C	163215567	T	C	163215567	2	2	81	1	0	0	0	0	0	0	0	1	6323	1664	58	3		3	GCA	2	163215567	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	79010	163215567	79983806	2241	5857											
KCNH7	90134	broad.mit.edu	37	2	163291736	163291736	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:163291736G>T	ENST00000332142.5	-	8	2025	c.1926C>A	c.(1924-1926)atC>atA	p.I642I	KCNH7_ENST00000328032.4_Silent_p.I635I	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	642					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity	p.I635I(1)|p.I642I(1)		NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	AAATTGAAAAGATTTTCTCCG	0.333													10	66					0.00010058	0.000110448	1	1	0	T	163291736	G	T	163291736	2	4	81	1	0	0	0	0	0	0	0	1	8081	932	33	4		4	KCNH7	2	163291736	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	76169	163291736	79907637	2242	5858											
KCNH7	90134	broad.mit.edu	37	2	163291760	163291760	+	Silent	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:163291760A>T	ENST00000332142.5	-	8	2001	c.1902T>A	c.(1900-1902)tcT>tcA	p.S634S	KCNH7_ENST00000328032.4_Silent_p.S627S	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	634					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	TCGTGTTAGGAGACACATTCC	0.378													41	45					0	0	1	0	0	T	163291760	A	T	163291760	2	4	81	1	0	0	0	0	0	0	0	1	8081	291	11	5		5	KCNH7	2	163291760	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	24	163291760	79907613	2243	5859											
KCNH7	90134	broad.mit.edu	37	2	163374646	163374646	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:163374646G>A	ENST00000332142.5	-	4	585	c.486C>T	c.(484-486)ttC>ttT	p.F162F	KCNH7_ENST00000477019.1_5'UTR|KCNH7_ENST00000328032.4_Silent_p.F162F	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	162					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	TCAGACCAGGGAATTTGAACC	0.388													28	38					0	0	1	0	0	A	163374646	G	A	163374646	2	1	81	1	0	0	0	0	0	0	0	1	8081	1165	41	2		2	KCNH7	2	163374646	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	82886	163374646	79824727	2244	5860											
FIGN	55137	broad.mit.edu	37	2	164468291	164468291	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:164468291C>A	ENST00000333129.3	-	3	365	c.51G>T	c.(49-51)gaG>gaT	p.E17D	FIGN_ENST00000482917.1_5'UTR|FIGN_ENST00000409634.1_Intron	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN	fidgetin	17						nuclear matrix	ATP binding|nucleoside-triphosphatase activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						ACTGGGCATGCTCTGGCGTCC	0.478													19	34					1.00905e-13	1.27467e-13	1	1	0	A	164468291	C	A	164468291	3	1	81	1	0	0	0	0	1	0	0	0	5924	796	28	4	2232	4	FIGN	2	164468291	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1093645	164468291	78731082	2245	5861											
COBLL1	22837	broad.mit.edu	37	2	165561493	165561493	+	Silent	SNP	C	C	T	rs138711091	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:165561493C>T	ENST00000375458.2	-	7	1340	c.1119G>A	c.(1117-1119)ccG>ccA	p.P373P	COBLL1_ENST00000194871.6_Silent_p.P439P|COBLL1_ENST00000409184.3_Silent_p.P411P|COBLL1_ENST00000392717.2_Silent_p.P411P|COBLL1_ENST00000342193.4_Silent_p.P373P|COBLL1_ENST00000491126.2_5'UTR	NM_001278460.1|NM_001278461.1	NP_001265389.1|NP_001265390.1	Q53SF7	COBL1_HUMAN	cordon-bleu WH2 repeat protein-like 1	411										central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	47						CACTTTGATGCGGGGGTATTT	0.423													79	145					0	0	1	0	0	T	165561493	C	T	165561493	2	4	81	1	0	0	0	0	0	0	0	1	3677	755	27	1		1	COBLL1	2	165561493	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1093202	165561493	77637880	2246	5862											
SCN3A	6328	broad.mit.edu	37	2	165947770	165947770	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:165947770G>A	ENST00000360093.3	-	28	5384	c.4893C>T	c.(4891-4893)atC>atT	p.I1631I	SCN3A_ENST00000540861.1_Silent_p.I114I|AC013463.2_ENST00000431341.1_RNA|SCN3A_ENST00000283254.7_Silent_p.I1631I|SCN3A_ENST00000409101.3_Silent_p.I1582I	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	1631						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	TCAGACGTAGGATTCGGCCAA	0.488													48	61					0	0	1	0	0	A	165947770	G	A	165947770	2	1	81	1	0	0	0	0	0	0	0	1	13972	1164	41	2		2	SCN3A	2	165947770	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	386277	165947770	77251603	2247	5863											
SCN3A	6328	broad.mit.edu	37	2	165953937	165953937	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:165953937T>G	ENST00000360093.3	-	23	4555	c.4064A>C	c.(4063-4065)aAt>aCt	p.N1355T	SCN3A_ENST00000283254.7_Missense_Mutation_p.N1355T|SCN3A_ENST00000409101.3_Missense_Mutation_p.N1306T	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	1355						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	AGCAAACAAATTCACACCCAT	0.423													5	68					0	0	1	0	0	G	165953937	T	G	165953937	3	3	81	1	0	0	0	0	1	0	0	0	13972	1493	52	4	1962	4	SCN3A	2	165953937	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	6167	165953937	77245436	2248	5864											
SCN3A	6328	broad.mit.edu	37	2	165986519	165986519	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:165986519A>G	ENST00000360093.3	-	17	3344	c.2853T>C	c.(2851-2853)tgT>tgC	p.C951C	SCN3A_ENST00000283254.7_Silent_p.C951C|SCN3A_ENST00000409101.3_Silent_p.C902C	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	951						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	CGACCTCCATACAGTCCCACA	0.473													54	87					0	0	1	0	0	G	165986519	A	G	165986519	2	3	81	1	0	0	0	0	0	0	0	1	13972	389	14	3		3	SCN3A	2	165986519	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	32582	165986519	77212854	2249	5865											
SCN3A	6328	broad.mit.edu	37	2	165986696	165986696	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:165986696G>A	ENST00000360093.3	-	17	3167	c.2676C>T	c.(2674-2676)atC>atT	p.I892I	SCN3A_ENST00000283254.7_Silent_p.I892I|SCN3A_ENST00000409101.3_Silent_p.I843I	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	892						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	AAATGAAGACGATGATGGCCA	0.468													62	70					0	0	1	0	0	A	165986696	G	A	165986696	2	1	81	1	0	0	0	0	0	0	0	1	13972	1048	37	1		1	SCN3A	2	165986696	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	177	165986696	77212677	2250	5866											
SCN3A	6328	broad.mit.edu	37	2	165997339	165997339	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:165997339G>A	ENST00000360093.3	-	13	2332	c.1841C>T	c.(1840-1842)cCg>cTg	p.P614L	SCN3A_ENST00000283254.7_Missense_Mutation_p.P614L|SCN3A_ENST00000409101.3_Missense_Mutation_p.P614L	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	614						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	ATGTCTGTGCGGCACAAACAG	0.502													19	21					0	0	1	0	0	A	165997339	G	A	165997339	3	1	81	1	0	0	0	0	1	0	0	0	13972	1116	39	1	4225	1	SCN3A	2	165997339	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	10643	165997339	77202034	2251	5867											
SCN2A	6326	broad.mit.edu	37	2	166152580	166152580	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:166152580C>T	ENST00000357398.3	+	2	537	c.247C>T	c.(247-249)Ccc>Tcc	p.P83S	SCN2A_ENST00000283256.6_Missense_Mutation_p.P83S|SCN2A_ENST00000375427.2_Missense_Mutation_p.P83S|SCN2A_ENST00000375437.2_Missense_Mutation_p.P83S			Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	83					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	GGATCTGGACCCCTACTATAT	0.453													25	34					0	0	1	0	0	T	166152580	C	T	166152580	3	4	81	1	0	0	0	0	1	0	0	0	13970	623	22	2	249	2	SCN2A	2	166152580	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	155241	166152580	77046793	2252	5868											
SCN2A	6326	broad.mit.edu	37	2	166179943	166179943	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:166179943G>A	ENST00000357398.3	+	12	2239	c.1949G>A	c.(1948-1950)tGc>tAc	p.C650Y	SCN2A_ENST00000283256.6_Missense_Mutation_p.C650Y|SCN2A_ENST00000375427.2_Missense_Mutation_p.C650Y|SCN2A_ENST00000375437.2_Missense_Mutation_p.C650Y			Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	650					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	GCTGTGGACTGCAATGGTGTG	0.592													11	23					0	0	1	0	0	A	166179943	G	A	166179943	3	1	81	1	0	0	0	0	1	0	0	0	13970	1319	46	2	2087	2	SCN2A	2	166179943	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	27363	166179943	77019430	2253	5869											
SCN2A	6326	broad.mit.edu	37	2	166245552	166245552	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:166245552T>C	ENST00000357398.3	+	27	5526	c.5236T>C	c.(5236-5238)Tgt>Cgt	p.C1746R	SCN2A_ENST00000283256.6_Missense_Mutation_p.C1746R|SCN2A_ENST00000375427.2_Missense_Mutation_p.C1746R|SCN2A_ENST00000375437.2_Missense_Mutation_p.C1746R			Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	1746					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	TAAAGGAGACTGTGGGAACCC	0.468													19	153					0	0	1	0	0	C	166245552	T	C	166245552	3	2	81	1	0	0	0	0	1	0	0	0	13970	1580	55	3	5434	3	SCN2A	2	166245552	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	65609	166245552	76953821	2254	5870											
CSRNP3	80034	broad.mit.edu	37	2	166514426	166514426	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:166514426C>T	ENST00000314499.7	+	5	680	c.304C>T	c.(304-306)Cgc>Tgc	p.R102C	CSRNP3_ENST00000342316.4_Missense_Mutation_p.R102C|CSRNP3_ENST00000409420.1_Missense_Mutation_p.R134C	NM_001172173.1	NP_001165644.1	Q8WYN3	CSRN3_HUMAN	cysteine-serine-rich nuclear protein 3	102					apoptosis|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|cervix(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(3)|skin(2)	33						TAACAGCGTGCGCCAGTACAC	0.552													12	26					0	0	1	0	0	T	166514426	C	T	166514426	3	4	81	1	0	0	0	0	1	0	0	0	3990	768	27	1	310	1	CSRNP3	2	166514426	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	268874	166514426	76684947	2255	5871											
CSRNP3	80034	broad.mit.edu	37	2	166532972	166532972	+	Missense_Mutation	SNP	C	C	T	rs150240455		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:166532972C>T	ENST00000314499.7	+	6	935	c.559C>T	c.(559-561)Cgt>Tgt	p.R187C	CSRNP3_ENST00000342316.4_Missense_Mutation_p.R187C|CSRNP3_ENST00000409420.1_Missense_Mutation_p.R219C	NM_001172173.1	NP_001165644.1	Q8WYN3	CSRN3_HUMAN	cysteine-serine-rich nuclear protein 3	187					apoptosis|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|cervix(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(3)|skin(2)	33						AGCTCTGCTGCGTGCCTCTGG	0.493													90	138					0	0	1	0	0	T	166532972	C	T	166532972	3	4	81	1	0	0	0	0	1	0	0	0	3990	768	27	1	569	1	CSRNP3	2	166532972	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	18546	166532972	76666401	2256	5872											
CSRNP3	80034	broad.mit.edu	37	2	166535949	166535949	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:166535949C>T	ENST00000314499.7	+	7	1820	c.1444C>T	c.(1444-1446)Cga>Tga	p.R482*	CSRNP3_ENST00000342316.4_Nonsense_Mutation_p.R482*|CSRNP3_ENST00000409420.1_Nonsense_Mutation_p.R514*	NM_001172173.1	NP_001165644.1	Q8WYN3	CSRN3_HUMAN	cysteine-serine-rich nuclear protein 3	482					apoptosis|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|cervix(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(3)|skin(2)	33						TGACTATGCCCGACAAGCAGA	0.517													12	14					0	0	1	0	0	T	166535949	C	T	166535949	4	4	81	1	0	0	0	0	0	1	0	0	3990	644	23	1	1458	1	CSRNP3	2	166535949	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2977	166535949	76663424	2257	5873											
TTC21B	79809	broad.mit.edu	37	2	166737287	166737287	+	Missense_Mutation	SNP	T	T	C	rs144130537	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:166737287T>C	ENST00000243344.7	-	27	3844	c.3707A>G	c.(3706-3708)tAt>tGt	p.Y1236C	TTC21B_ENST00000536175.1_Missense_Mutation_p.Y174C	NM_024753.4	NP_079029.3	Q7Z4L5	TT21B_HUMAN	tetratricopeptide repeat domain 21B	1236						cilium axoneme|cytoplasm|cytoskeleton	binding			breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(9)|lung(28)|ovary(2)|pancreas(2)|skin(2)|urinary_tract(1)	58						GTATCCCATATATTCATAAGC	0.368													13	31					0	0	1	0	0	C	166737287	T	C	166737287	3	2	81	1	0	0	0	0	1	0	0	0	16750	1406	49	3	255	3	TTC21B	2	166737287	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	201338	166737287	76462086	2258	5874											
TTC21B	79809	broad.mit.edu	37	2	166747469	166747469	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:166747469C>T	ENST00000243344.7	-	23	3117	c.2980G>A	c.(2980-2982)Gat>Aat	p.D994N		NM_024753.4	NP_079029.3	Q7Z4L5	TT21B_HUMAN	tetratricopeptide repeat domain 21B	994						cilium axoneme|cytoplasm|cytoskeleton	binding			breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(9)|lung(28)|ovary(2)|pancreas(2)|skin(2)|urinary_tract(1)	58						CTTAGGAGATCAATCAAACGA	0.338													23	34					0	0	1	0	0	T	166747469	C	T	166747469	3	4	81	1	0	0	0	0	1	0	0	0	16750	826	29	2	998	2	TTC21B	2	166747469	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	10182	166747469	76451904	2259	5875											
TTC21B	79809	broad.mit.edu	37	2	166775891	166775891	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:166775891G>T	ENST00000243344.7	-	13	1706	c.1569C>A	c.(1567-1569)ccC>ccA	p.P523P		NM_024753.4	NP_079029.3	Q7Z4L5	TT21B_HUMAN	tetratricopeptide repeat domain 21B	523						cilium axoneme|cytoplasm|cytoskeleton	binding			breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(9)|lung(28)|ovary(2)|pancreas(2)|skin(2)|urinary_tract(1)	58						CAGCATAAGAGGGATTGTGTT	0.353													5	93					1.23904e-05	1.39156e-05	1	1	0	T	166775891	G	T	166775891	2	4	81	1	0	0	0	0	0	0	0	1	16750	987	35	4		4	TTC21B	2	166775891	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	28422	166775891	76423482	2260	5876											
SCN1A	6323	broad.mit.edu	37	2	166847988	166847988	+	Nonsense_Mutation	SNP	G	G	A	rs146304578	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:166847988G>A	ENST00000423058.2	-	26	5814	c.5797C>T	c.(5797-5799)Cga>Tga	p.R1933*	SCN1A_ENST00000303395.4_Nonsense_Mutation_p.R1933*|SCN1A_ENST00000375405.3_Nonsense_Mutation_p.R1922*|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000409050.1_Nonsense_Mutation_p.R1905*|AC010127.3_ENST00000597623.1_RNA	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1933						voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.R1922*(1)		NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	TTTACAGTTCGCTTTAAAAGG	0.358													33	50					0	0	1	0	0	A	166847988	G	A	166847988	4	1	81	1	0	0	0	0	0	1	0	0	13968	1095	38	1	236	1	SCN1A	2	166847988	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	72097	166847988	76351385	2261	5877											
SCN1A	6323	broad.mit.edu	37	2	166848361	166848361	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:166848361G>T	ENST00000423058.2	-	26	5441	c.5424C>A	c.(5422-5424)ttC>ttA	p.F1808L	SCN1A_ENST00000303395.4_Missense_Mutation_p.F1808L|SCN1A_ENST00000375405.3_Missense_Mutation_p.F1797L|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.F1780L|AC010127.3_ENST00000597623.1_RNA	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1808			F -> L (in ICEGTC; dbSNP:rs121918757).|Missing (in SMEI).			voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	AAACCTCATAGAACATCTCAA	0.458													46	65					1.19451e-25	1.58128e-25	1	1	0	T	166848361	G	T	166848361	3	4	81	1	0	0	0	0	1	0	0	0	13968	933	33	4	609	4	SCN1A	2	166848361	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	373	166848361	76351012	2262	5878											
SCN1A	6323	broad.mit.edu	37	2	166911241	166911241	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:166911241A>G	ENST00000423058.2	-	4	526	c.509T>C	c.(508-510)cTt>cCt	p.L170P	SCN1A_ENST00000303395.4_Missense_Mutation_p.L170P|AC010127.3_ENST00000599041.1_RNA|SCN1A_ENST00000375405.3_Missense_Mutation_p.L170P|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.L170P|AC010127.3_ENST00000595268.1_RNA	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	170						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	AATTTTTATAAGTGATTCAAA	0.328													3	38					0	0	1	0	0	G	166911241	A	G	166911241	3	3	81	1	0	0	0	0	1	0	0	0	13968	72	3	3	5612	3	SCN1A	2	166911241	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	62880	166911241	76288132	2263	5879											
SCN9A	6335	broad.mit.edu	37	2	167055991	167055992	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:167055991_167055992insT	ENST00000375387.4	-	27	5500_5501	c.5160_5161insA	c.(5158-5163)aaagttfs	p.V1721fs	SCN9A_ENST00000409672.1_Frame_Shift_Ins_p.V1709fs|SCN9A_ENST00000409435.1_Frame_Shift_Ins_p.V1720fs|AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000303354.6_Frame_Shift_Ins_p.V1721fs			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	1720						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	CCAGGATGAACTTTTTTTGGGT	0.421													18	277	---	---	---	---						T	167055992	-	T	167055991	7	5	81	1	0	1	1	0	0	0	0	0	13979	565	20	0	812	0	SCN9A	2	167055991	Frame_Shift_Ins	INS	-	TCGA-DU-6392-01A-11D-1705-08	144750	167055991	76143382	2264	5880											
SCN9A	6335	broad.mit.edu	37	2	167168078	167168078	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:167168078A>G	ENST00000303354.6	-	2	529	c.189T>C	c.(187-189)taT>taC	p.Y63Y	SCN9A_ENST00000409435.1_Silent_p.Y63Y|SCN9A_ENST00000409672.1_Silent_p.Y63Y|SCN9A_ENST00000375387.4_Silent_p.Y63Y			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	63						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	GAATGTCCCCATAGATGAAGG	0.473													28	60					0	0	1	0	0	G	167168078	A	G	167168078	2	3	81	1	0	0	0	0	0	0	0	1	13979	224	8	3		3	SCN9A	2	167168078	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	112087	167168078	76031295	2265	5881											
XIRP2	129446	broad.mit.edu	37	2	168102966	168102966	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:168102966C>T	ENST00000409195.1	+	9	5153	c.5064C>T	c.(5062-5064)aaC>aaT	p.N1688N	XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000295237.9_Silent_p.N1688N|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409273.1_Silent_p.N1466N|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1513					actin cytoskeleton organization	cell junction	actin binding	p.N1688K(1)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GAGATATTAACATGACTATCT	0.338													6	71					0	0	1	0	0	T	168102966	C	T	168102966	2	4	81	1	0	0	0	0	0	0	0	1	17490	477	17	2		2	XIRP2	2	168102966	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	934888	168102966	75096407	2266	5882											
XIRP2	129446	broad.mit.edu	37	2	168103716	168103716	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:168103716G>T	ENST00000409195.1	+	9	5903	c.5814G>T	c.(5812-5814)gaG>gaT	p.E1938D	XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.E1938D|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.E1716D|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1763					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GTTTCAAAGAGGTACATAAAG	0.388													5	36					0.014758	0.0152304	1	1	0	T	168103716	G	T	168103716	3	4	81	1	0	0	0	0	1	0	0	0	17490	991	35	4	5844	4	XIRP2	2	168103716	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	750	168103716	75095657	2267	5883											
XIRP2	129446	broad.mit.edu	37	2	168106741	168106741	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:168106741T>G	ENST00000409195.1	+	9	8928	c.8839T>G	c.(8839-8841)Ttc>Gtc	p.F2947V	XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.F2947V|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.F2725V|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2772					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TATAGTGGAATTCTTGAGAAA	0.368													14	102					0	0	1	0	0	G	168106741	T	G	168106741	3	3	81	1	0	0	0	0	1	0	0	0	17490	1493	52	4	8869	4	XIRP2	2	168106741	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	3025	168106741	75092632	2268	5884											
XIRP2	129446	broad.mit.edu	37	2	168107137	168107137	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:168107137A>G	ENST00000409195.1	+	9	9324	c.9235A>G	c.(9235-9237)Aca>Gca	p.T3079A	XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.T3079A|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.T2857A|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2904				E -> G (in Ref. 8; CAD91137).	actin cytoskeleton organization	cell junction	actin binding	p.T3079A(1)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						CAAAGAGAAAACAGTACAGCA	0.368													11	66					0	0	1	0	0	G	168107137	A	G	168107137	3	3	81	1	0	0	0	0	1	0	0	0	17490	43	2	3	9265	3	XIRP2	2	168107137	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	396	168107137	75092236	2269	5885											
XIRP2	129446	broad.mit.edu	37	2	168114997	168114997	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:168114997C>T	ENST00000409728.1	+	11	2129	c.2040C>T	c.(2038-2040)gaC>gaT	p.D680D	XIRP2_ENST00000409605.1_Silent_p.D425D|XIRP2_ENST00000295237.9_3'UTR|XIRP2_ENST00000409756.2_Silent_p.D647D|XIRP2_ENST00000409195.1_3'UTR|XIRP2_ENST00000409273.1_3'UTR|XIRP2_ENST00000420519.1_Silent_p.D680D|XIRP2_ENST00000409043.1_Silent_p.D647D	NM_001199143.1	NP_001186072.1	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2758					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AAGCTGAAGACACAAAGAGTA	0.358													15	14					0	0	1	0	0	T	168114997	C	T	168114997	2	4	81	1	0	0	0	0	0	0	0	1	17490	477	17	2		2	XIRP2	2	168114997	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	7860	168114997	75084376	2270	5886											
XIRP2	129446	broad.mit.edu	37	2	168115079	168115080	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:168115079_168115080insA	ENST00000409728.1	+	11	2211_2212	c.2122_2123insA	c.(2122-2124)gaafs	p.E708fs	XIRP2_ENST00000420519.1_Frame_Shift_Ins_p.E708fs|XIRP2_ENST00000409195.1_3'UTR|XIRP2_ENST00000409605.1_Frame_Shift_Ins_p.E453fs|XIRP2_ENST00000295237.9_3'UTR|XIRP2_ENST00000409756.2_Frame_Shift_Ins_p.E675fs|XIRP2_ENST00000409043.1_Frame_Shift_Ins_p.E675fs|XIRP2_ENST00000409273.1_3'UTR	NM_001199143.1	NP_001186072.1	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	0					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GGAGAAAAATGAAAAAACTAAC	0.342													10	30	---	---	---	---						A	168115080	-	A	168115079	7	5	81	1	0	1	1	0	0	0	0	0	17490	1291	45	0	11440	0	XIRP2	2	168115079	Frame_Shift_Ins	INS	-	TCGA-DU-6392-01A-11D-1705-08	82	168115079	75084294	2271	5887											
XIRP2	129446	broad.mit.edu	37	2	168115641	168115641	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:168115641T>C	ENST00000409728.1	+	11	2773	c.2684T>C	c.(2683-2685)gTa>gCa	p.V895A	XIRP2_ENST00000409605.1_Missense_Mutation_p.V640A|XIRP2_ENST00000295237.9_3'UTR|XIRP2_ENST00000409756.2_Missense_Mutation_p.V862A|XIRP2_ENST00000409195.1_3'UTR|XIRP2_ENST00000409273.1_3'UTR|XIRP2_ENST00000420519.1_Missense_Mutation_p.V895A|XIRP2_ENST00000409043.1_Missense_Mutation_p.V862A	NM_001199143.1	NP_001186072.1	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	0					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						ATAGATTCTGTAGATCAAATT	0.318													7	39					0	0	1	0	0	C	168115641	T	C	168115641	3	2	81	1	0	0	0	0	1	0	0	0	17490	1638	57	3	12002	3	XIRP2	2	168115641	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	562	168115641	75083732	2272	5888											
NOSTRIN	115677	broad.mit.edu	37	2	169717336	169717336	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:169717336G>A	ENST00000444448.2	+	17	1858	c.1382G>A	c.(1381-1383)cGg>cAg	p.R461Q	NOSTRIN_ENST00000317647.7_Missense_Mutation_p.R404Q|NOSTRIN_ENST00000421711.2_Missense_Mutation_p.R376Q|NOSTRIN_ENST00000397206.2_Missense_Mutation_p.R326Q|NOSTRIN_ENST00000397209.2_Missense_Mutation_p.R376Q|NOSTRIN_ENST00000458381.2_Missense_Mutation_p.R461Q|NOSTRIN_ENST00000445023.2_Missense_Mutation_p.R326Q			Q8IVI9	NOSTN_HUMAN	nitric oxide synthase trafficking	404	SH3.				endocytosis|nitric oxide metabolic process|regulation of nitric-oxide synthase activity	cytoplasmic membrane-bounded vesicle|cytoskeleton|plasma membrane	protein binding			kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	9						AAAATATCTCGGCCTTTTTTA	0.368													28	55					0	0	1	0	0	A	169717336	G	A	169717336	3	1	81	1	0	0	0	0	1	0	0	0	10593	1116	39	1	1440	1	NOSTRIN	2	169717336	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1601695	169717336	73482037	2273	5889											
SPC25	57405	broad.mit.edu	37	2	169745979	169745979	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:169745979C>T	ENST00000282074.2	-	2	192	c.51G>A	c.(49-51)tgG>tgA	p.W17*	SPC25_ENST00000472216.2_5'UTR	NM_020675.3	NP_065726.1	Q9HBM1	SPC25_HUMAN	SPC25, NDC80 kinetochore complex component	17	Interaction with the N-terminus of SPBC24.|Interaction with the NDC80-NUF2 subcomplex.				cell division|chromosome segregation|mitotic prometaphase|mitotic spindle organization	condensed chromosome kinetochore|cytosol|Ndc80 complex|nucleus	protein binding			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(1)	9						TGAATTTATTCCAAAATTCAT	0.368													13	19					0	0	1	0	0	T	169745979	C	T	169745979	4	4	81	1	0	0	0	0	0	1	0	0	15078	856	30	2	647	2	SPC25	2	169745979	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	28643	169745979	73453394	2274	5890											
ABCB11	8647	broad.mit.edu	37	2	169780225	169780225	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:169780225C>A	ENST00000263817.6	-	28	3997	c.3873G>T	c.(3871-3873)caG>caT	p.Q1291H		NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 11	1291	ABC transporter 2.				bile acid biosynthetic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)	TCACCACCCCCTGTGCCATGA	0.522													5	58					0.014758	0.0152304	1	1	0	A	169780225	C	A	169780225	3	1	81	1	0	0	0	0	1	0	0	0	42	680	24	4	96	4	ABCB11	2	169780225	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	34246	169780225	73419148	2275	5891											
LRP2	4036	broad.mit.edu	37	2	170012830	170012830	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:170012830G>T	ENST00000263816.3	-	65	12390	c.12105C>A	c.(12103-12105)ggC>ggA	p.G4035G		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	4035	EGF-like 15; calcium-binding (Potential).				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	TAGACGTGAAGCCATCAGCAC	0.428													8	77					0.00448238	0.00470627	1	1	0	T	170012830	G	T	170012830	2	4	81	1	0	0	0	0	0	0	0	1	9001	958	34	4		4	LRP2	2	170012830	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	232605	170012830	73186543	2276	5892											
LRP2	4036	broad.mit.edu	37	2	170013930	170013930	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:170013930G>T	ENST00000263816.3	-	64	12255	c.11970C>A	c.(11968-11970)tcC>tcA	p.S3990S		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	3990	EGF-like 14.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	CAGCTGTACAGGAGCAGATAA	0.358													14	26					4.36969e-10	5.3233e-10	1	1	0	T	170013930	G	T	170013930	2	4	81	1	0	0	0	0	0	0	0	1	9001	987	35	4		4	LRP2	2	170013930	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1100	170013930	73185443	2277	5893											
LRP2	4036	broad.mit.edu	37	2	170062575	170062575	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:170062575C>T	ENST00000263816.3	-	40	7799	c.7514G>A	c.(7513-7515)cGc>cAc	p.R2505H		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2505					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	TTTTGGAACGCGGGCTATCAC	0.428													38	53					0	0	1	0	0	T	170062575	C	T	170062575	3	4	81	1	0	0	0	0	1	0	0	0	9001	768	27	1	6613	1	LRP2	2	170062575	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	48645	170062575	73136798	2278	5894											
LRP2	4036	broad.mit.edu	37	2	170094773	170094773	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:170094773T>G	ENST00000263816.3	-	27	4619	c.4334A>C	c.(4333-4335)aAa>aCa	p.K1445T		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	1445					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	GGCAATAATTTTGTTCTGACT	0.378													3	44					0	0	1	0	0	G	170094773	T	G	170094773	3	3	81	1	0	0	0	0	1	0	0	0	9001	1841	64	5	9845	5	LRP2	2	170094773	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	32198	170094773	73104600	2279	5895											
LRP2	4036	broad.mit.edu	37	2	170103217	170103217	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:170103217A>T	ENST00000263816.3	-	21	3473	c.3188T>A	c.(3187-3189)cTt>cAt	p.L1063H	LRP2_ENST00000443831.1_Missense_Mutation_p.L926H	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	1063					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	CTACTTACTAAGTGTGCCACA	0.398													83	122					0	0	1	0	0	T	170103217	A	T	170103217	3	4	81	1	0	0	0	0	1	0	0	0	9001	72	3	5	11015	5	LRP2	2	170103217	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	8444	170103217	73096156	2280	5896											
LRP2	4036	broad.mit.edu	37	2	170175364	170175364	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:170175364T>G	ENST00000263816.3	-	3	503	c.218A>C	c.(217-219)aAg>aCg	p.K73T	LRP2_ENST00000443831.1_Missense_Mutation_p.K73T	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	73	LDL-receptor class A 2.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	ACTCTGGCACTTGAAATAGCC	0.463													10	32					0	0	1	0	0	G	170175364	T	G	170175364	3	3	81	1	0	0	0	0	1	0	0	0	9001	1609	56	5	14057	5	LRP2	2	170175364	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	72147	170175364	73024009	2281	5897											
LRP2	4036	broad.mit.edu	37	2	170177288	170177288	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:170177288G>A	ENST00000263816.3	-	2	471	c.186C>T	c.(184-186)tgC>tgT	p.C62C	LRP2_ENST00000443831.1_Splice_Site_p.C62C	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	62	LDL-receptor class A 1.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	CTCACTTACCGCAGCCAATTT	0.488													24	31					0	0	1	0	0	A	170177288	G	A	170177288	5	1	81	1	0	0	0	0	0	0	1	0	9001	1101	38	1	14093	1	LRP2	2	170177288	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1924	170177288	73022085	2282	5898											
BBS5	129880	broad.mit.edu	37	2	170344594	170344594	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:170344594G>T	ENST00000295240.3	+	5	732	c.356G>T	c.(355-357)aGa>aTa	p.R119I	RP11-724O16.1_ENST00000513963.1_Missense_Mutation_p.R119I|BBS5_ENST00000554017.1_Missense_Mutation_p.R119I|BBS5_ENST00000392663.2_Missense_Mutation_p.R119I	NM_152384.2	NP_689597.1			Bardet-Biedl syndrome 5											endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						GGAAGCCCTAGACTTTTTACT	0.338									Bardet-Biedl syndrome				39	55					6.04917e-29	8.05194e-29	1	1	0	T	170344594	G	T	170344594	3	4	81	1	0	0	0	0	1	0	0	0	1338	942	33	4	374	4	BBS5	2	170344594	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	167306	170344594	72854779	2283	5899											
PPIG	9360	broad.mit.edu	37	2	170471162	170471162	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:170471162A>G	ENST00000260970.3	+	9	695	c.475A>G	c.(475-477)Aca>Gca	p.T159A	PPIG_ENST00000462903.1_Missense_Mutation_p.T159A|PPIG_ENST00000448752.2_Missense_Mutation_p.T159A|PPIG_ENST00000409714.3_Missense_Mutation_p.T144A	NM_004792.2	NP_004783.2	Q13427	PPIG_HUMAN	peptidylprolyl isomerase G (cyclophilin G)	159	PPIase cyclophilin-type.				protein folding|RNA splicing	nuclear matrix|nuclear speck	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(17)|ovary(2)|stomach(1)|urinary_tract(1)	43					L-Proline(DB00172)	AAACCAGAAAACAGATGCAGC	0.358													57	64					0	0	1	0	0	G	170471162	A	G	170471162	3	3	81	1	0	0	0	0	1	0	0	0	12373	43	2	3	501	3	PPIG	2	170471162	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	126568	170471162	72728211	2284	5900											
PPIG	9360	broad.mit.edu	37	2	170489682	170489682	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:170489682C>A	ENST00000260970.3	+	12	1162	c.942C>A	c.(940-942)aaC>aaA	p.N314K	PPIG_ENST00000462903.1_Missense_Mutation_p.N314K|PPIG_ENST00000448752.2_Missense_Mutation_p.N314K|PPIG_ENST00000409714.3_Missense_Mutation_p.N299K|PPIG_ENST00000482772.1_3'UTR	NM_004792.2	NP_004783.2	Q13427	PPIG_HUMAN	peptidylprolyl isomerase G (cyclophilin G)	314					protein folding|RNA splicing	nuclear matrix|nuclear speck	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(17)|ovary(2)|stomach(1)|urinary_tract(1)	43					L-Proline(DB00172)	ATCCACCTAACTCCCAGCCTG	0.393													16	38					1.33834e-09	1.61909e-09	1	1	0	A	170489682	C	A	170489682	3	1	81	1	0	0	0	0	1	0	0	0	12373	564	20	4	980	4	PPIG	2	170489682	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	18520	170489682	72709691	2285	5901											
PPIG	9360	broad.mit.edu	37	2	170492668	170492668	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:170492668T>C	ENST00000260970.3	+	13	1304	c.1084T>C	c.(1084-1086)Tgg>Cgg	p.W362R	PPIG_ENST00000448752.2_Missense_Mutation_p.W362R|PPIG_ENST00000409714.3_Missense_Mutation_p.W347R|PPIG_ENST00000482772.1_3'UTR	NM_004792.2	NP_004783.2	Q13427	PPIG_HUMAN	peptidylprolyl isomerase G (cyclophilin G)	362					protein folding|RNA splicing	nuclear matrix|nuclear speck	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(17)|ovary(2)|stomach(1)|urinary_tract(1)	43					L-Proline(DB00172)	TCCTCCACATTGGAGGCAAGA	0.378													7	71					0	0	1	0	0	C	170492668	T	C	170492668	3	2	81	1	0	0	0	0	1	0	0	0	12373	1812	63	3	1126	3	PPIG	2	170492668	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	2986	170492668	72706705	2286	5902											
MYO3B	140469	broad.mit.edu	37	2	171256710	171256710	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:171256710G>T	ENST00000334231.6	+	17	1831	c.1831G>T	c.(1831-1833)Gtg>Ttg	p.V611L	MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000409044.3_Missense_Mutation_p.V602L|MYO3B_ENST00000408978.4_Missense_Mutation_p.V602L			Q8WXR4	MYO3B_HUMAN	myosin IIIB	602	Myosin head-like.				response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						GGTGCACTCAGTGTACAGAAT	0.413													60	146					3.8688e-20	5.04663e-20	1	1	0	T	171256710	G	T	171256710	3	4	81	1	0	0	0	0	1	0	0	0	10125	1029	36	4	1870	4	MYO3B	2	171256710	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	764042	171256710	71942663	2287	5903											
GAD1	2571	broad.mit.edu	37	2	171675163	171675163	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:171675163C>T	ENST00000358196.3	+	2	612	c.62C>T	c.(61-63)aCc>aTc	p.T21I	GAD1_ENST00000429023.1_3'UTR|GAD1_ENST00000344257.5_Missense_Mutation_p.T21I|GAD1_ENST00000375272.1_Missense_Mutation_p.T21I	NM_000817.2	NP_000808.2	Q99259	DCE1_HUMAN	glutamate decarboxylase 1 (brain, 67kDa)	21					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion|protein-pyridoxal-5-phosphate linkage	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|plasma membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(15)|ovary(1)|urinary_tract(2)	35					L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	GACCCCAATACCACTAACCTG	0.627													19	51					0	0	1	0	0	T	171675163	C	T	171675163	3	4	81	1	0	0	0	0	1	0	0	0	6214	507	18	2	64	2	GAD1	2	171675163	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	418453	171675163	71524210	2288	5904											
GAD1	2571	broad.mit.edu	37	2	171702114	171702114	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:171702114C>A	ENST00000358196.3	+	8	1400	c.850C>A	c.(850-852)Ctc>Atc	p.L284I		NM_000817.2	NP_000808.2	Q99259	DCE1_HUMAN	glutamate decarboxylase 1 (brain, 67kDa)	284					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion|protein-pyridoxal-5-phosphate linkage	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|plasma membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(15)|ovary(1)|urinary_tract(2)	35					L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	TAAACTGGTCCTCTTCACCTC	0.507													26	44					0.000117367	0.000128867	1	1	0	A	171702114	C	A	171702114	3	1	81	1	0	0	0	0	1	0	0	0	6214	681	24	4	917	4	GAD1	2	171702114	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	26951	171702114	71497259	2289	5905											
GORASP2	26003	broad.mit.edu	37	2	171822309	171822309	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:171822309C>A	ENST00000234160.4	+	10	1843	c.1028C>A	c.(1027-1029)cCt>cAt	p.P343H	GORASP2_ENST00000452526.2_Missense_Mutation_p.P355H|GORASP2_ENST00000493692.1_3'UTR	NM_001201428.1|NM_015530.4	NP_001188357.1|NP_056345.3	Q9H8Y8	GORS2_HUMAN	golgi reassembly stacking protein 2, 55kDa	343	Pro-rich.					Golgi membrane				breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	14						GGTCTGCCACCTCTTCCTTCC	0.498													4	48					5.9392e-07	6.87481e-07	1	1	0	A	171822309	C	A	171822309	3	1	81	1	0	0	0	0	1	0	0	0	6615	681	24	4	1066	4	GORASP2	2	171822309	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	120195	171822309	71377064	2290	5906											
GORASP2	26003	broad.mit.edu	37	2	171822497	171822497	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:171822497G>A	ENST00000234160.4	+	10	2031	c.1216G>A	c.(1216-1218)Gct>Act	p.A406T	GORASP2_ENST00000452526.2_Missense_Mutation_p.A418T	NM_001201428.1|NM_015530.4	NP_001188357.1|NP_056345.3	Q9H8Y8	GORS2_HUMAN	golgi reassembly stacking protein 2, 55kDa	406						Golgi membrane				breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	14						AAAGGCAGACGCTGCCTCCTC	0.637													17	32					0	0	1	0	0	A	171822497	G	A	171822497	3	1	81	1	0	0	0	0	1	0	0	0	6615	1087	38	1	1254	1	GORASP2	2	171822497	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	188	171822497	71376876	2291	5907											
CYBRD1	79901	broad.mit.edu	37	2	172379134	172379134	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:172379134G>A	ENST00000321348.4	+	1	277	c.79G>A	c.(79-81)Gcc>Acc	p.A27T	CYBRD1_ENST00000375252.3_Missense_Mutation_p.A27T|CYBRD1_ENST00000409484.1_Intron|CYBRD1_ENST00000468308.1_3'UTR	NM_024843.3	NP_079119.3	Q53TN4	CYBR1_HUMAN	cytochrome b reductase 1	27	Cytochrome b561.				cellular iron ion homeostasis|electron transport chain|transmembrane transport	integral to membrane	ferric-chelate reductase activity|metal ion binding			endometrium(1)|kidney(1)|large_intestine(3)|liver(2)|lung(3)	10						GGTGATCTTCGCCCTCGTCTG	0.642													4	11					0	0	1	0	0	A	172379134	G	A	172379134	3	1	81	1	0	0	0	0	1	0	0	0	4157	1087	38	1	81	1	CYBRD1	2	172379134	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	556637	172379134	70820239	2292	5908											
CYBRD1	79901	broad.mit.edu	37	2	172398115	172398115	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:172398115C>T	ENST00000321348.4	+	2	412	c.214C>T	c.(214-216)Ccg>Tcg	p.P72S	CYBRD1_ENST00000375252.3_Intron|CYBRD1_ENST00000409484.1_Missense_Mutation_p.P14S|CYBRD1_ENST00000468308.1_3'UTR	NM_024843.3	NP_079119.3	Q53TN4	CYBR1_HUMAN	cytochrome b reductase 1	72	Cytochrome b561.				cellular iron ion homeostasis|electron transport chain|transmembrane transport	integral to membrane	ferric-chelate reductase activity|metal ion binding			endometrium(1)|kidney(1)|large_intestine(3)|liver(2)|lung(3)	10						CTACAGACTGCCGTGGACCTG	0.438													19	49					0	0	1	0	0	T	172398115	C	T	172398115	3	4	81	1	0	0	0	0	1	0	0	0	4157	739	26	2	220	2	CYBRD1	2	172398115	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	18981	172398115	70801258	2293	5909	23	2									
CYBRD1	79901	broad.mit.edu	37	2	172398116	172398116	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:172398116C>T	ENST00000321348.4	+	2	413	c.215C>T	c.(214-216)cCg>cTg	p.P72L	CYBRD1_ENST00000375252.3_Intron|CYBRD1_ENST00000409484.1_Missense_Mutation_p.P14L|CYBRD1_ENST00000468308.1_3'UTR	NM_024843.3	NP_079119.3	Q53TN4	CYBR1_HUMAN	cytochrome b reductase 1	72	Cytochrome b561.				cellular iron ion homeostasis|electron transport chain|transmembrane transport	integral to membrane	ferric-chelate reductase activity|metal ion binding			endometrium(1)|kidney(1)|large_intestine(3)|liver(2)|lung(3)	10						TACAGACTGCCGTGGACCTGG	0.438													19	48					0	0	1	0	0	T	172398116	C	T	172398116	3	4	81	1	0	0	0	0	1	0	0	0	4157	652	23	1	221	1	CYBRD1	2	172398116	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1	172398116	70801257	2294	5910	23	2									
HAT1	8520	broad.mit.edu	37	2	172809432	172809432	+	Translation_Start_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:172809432C>A	ENST00000392584.1	+	0	199				HAT1_ENST00000264108.4_Silent_p.I74I|SLC25A12_ENST00000472748.1_Intron			O14929	HAT1_HUMAN	histone acetyltransferase 1						chromatin silencing at telomere|DNA packaging	cytoplasm|nuclear matrix|nucleoplasm	histone acetyltransferase activity|protein binding			breast(1)|kidney(1)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|prostate(1)	19			OV - Ovarian serous cystadenocarcinoma(117;0.216)			GTCTAAAGATCCTGTTATACT	0.338													14	27					0.00244969	0.00258825	1	1	0	A	172809432	C	A	172809432	1	1	81	1	0	0	0	0	0	0	0	0	7005	845	30	5		5	HAT1	2	172809432	Translation_Start_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	411316	172809432	70389941	2295	5911											
HAT1	8520	broad.mit.edu	37	2	172821917	172821917	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:172821917C>T	ENST00000264108.4	+	5	404	c.368C>T	c.(367-369)aCg>aTg	p.T123M	HAT1_ENST00000392584.1_Missense_Mutation_p.T38M|SLC25A12_ENST00000472748.1_Intron	NM_003642.3	NP_003633.1	O14929	HAT1_HUMAN	histone acetyltransferase 1	123					chromatin silencing at telomere|DNA packaging	cytoplasm|nuclear matrix|nucleoplasm	histone acetyltransferase activity|protein binding			breast(1)|kidney(1)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|prostate(1)	19			OV - Ovarian serous cystadenocarcinoma(117;0.216)			TGCACAAACACGAATGATTTC	0.358													4	40					0	0	1	0	0	T	172821917	C	T	172821917	3	4	81	1	0	0	0	0	1	0	0	0	7005	536	19	1	386	1	HAT1	2	172821917	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	12485	172821917	70377456	2296	5912											
HAT1	8520	broad.mit.edu	37	2	172848174	172848174	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:172848174G>T	ENST00000264108.4	+	11	1204	c.1168G>T	c.(1168-1170)Gaa>Taa	p.E390*	HAT1_ENST00000392584.1_Nonsense_Mutation_p.E305*|SLC25A12_ENST00000472748.1_Intron	NM_003642.3	NP_003633.1	O14929	HAT1_HUMAN	histone acetyltransferase 1	390					chromatin silencing at telomere|DNA packaging	cytoplasm|nuclear matrix|nucleoplasm	histone acetyltransferase activity|protein binding			breast(1)|kidney(1)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|prostate(1)	19			OV - Ovarian serous cystadenocarcinoma(117;0.216)			GAACCAAATAGAAATAAGCAT	0.368													32	37					2.16457e-27	2.87489e-27	1	1	0	T	172848174	G	T	172848174	4	4	81	1	0	0	0	0	0	1	0	0	7005	943	33	4	1210	4	HAT1	2	172848174	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	26257	172848174	70351199	2297	5913											
DLX2	1746	broad.mit.edu	37	2	172965582	172965582	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:172965582C>T	ENST00000234198.4	-	3	1037	c.676G>A	c.(676-678)Gct>Act	p.A226T	DLX2_ENST00000466293.2_3'UTR	NM_004405.3	NP_004396.1	Q07687	DLX2_HUMAN	distal-less homeobox 2	226						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(1)|lung(6)|ovary(2)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(117;0.216)			GGTGGAGAAGCGCTGGCCCCA	0.637													9	12					0	0	1	0	0	T	172965582	C	T	172965582	3	4	81	1	0	0	0	0	1	0	0	0	4599	768	27	1	314	1	DLX2	2	172965582	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	117408	172965582	70233791	2298	5914											
ITGA6	3655	broad.mit.edu	37	2	173332215	173332215	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:173332215C>T	ENST00000375221.2	+	3	517	c.314C>T	c.(313-315)cCc>cTc	p.P105L	ITGA6_ENST00000409532.1_5'UTR|ITGA6_ENST00000343713.4_Missense_Mutation_p.P105L|ITGA6_ENST00000409080.1_Missense_Mutation_p.P105L|ITGA6_ENST00000264107.7_Missense_Mutation_p.P105L|ITGA6_ENST00000264106.6_Missense_Mutation_p.P105L			P23229	ITA6_HUMAN	integrin, alpha 6	105					blood coagulation|cell adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter	integrin complex	protein binding|receptor activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	44			OV - Ovarian serous cystadenocarcinoma(117;0.0979)			ACAGCTGACCCCACGTCAGAA	0.498													19	40					0	0	1	0	0	T	173332215	C	T	173332215	3	4	81	1	0	0	0	0	1	0	0	0	7924	623	22	2	324	2	ITGA6	2	173332215	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	366633	173332215	69867158	2299	5915											
ITGA6	3655	broad.mit.edu	37	2	173337563	173337563	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:173337563G>A	ENST00000375221.2	+	6	1040	c.837G>A	c.(835-837)cgG>cgA	p.R279R	ITGA6_ENST00000409532.1_Silent_p.R121R|ITGA6_ENST00000343713.4_Silent_p.R235R|ITGA6_ENST00000409080.1_Intron|ITGA6_ENST00000264107.7_Intron|ITGA6_ENST00000264106.6_Silent_p.R279R			P23229	ITA6_HUMAN	integrin, alpha 6	279					blood coagulation|cell adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter	integrin complex	protein binding|receptor activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	44			OV - Ovarian serous cystadenocarcinoma(117;0.0979)			ATAAAACACGGCCTCCCCGGG	0.468													31	77					0	0	1	0	0	A	173337563	G	A	173337563	2	1	81	1	0	0	0	0	0	0	0	1	7924	1218	42	2		2	ITGA6	2	173337563	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	5348	173337563	69861810	2300	5916											
ITGA6	3655	broad.mit.edu	37	2	173339741	173339741	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:173339741G>T	ENST00000375221.2	+	8	1391	c.1188G>T	c.(1186-1188)caG>caT	p.Q396H	ITGA6_ENST00000409532.1_Missense_Mutation_p.Q238H|ITGA6_ENST00000343713.4_Missense_Mutation_p.Q352H|ITGA6_ENST00000409080.1_Missense_Mutation_p.Q357H|ITGA6_ENST00000264107.7_Missense_Mutation_p.Q357H|ITGA6_ENST00000264106.6_Missense_Mutation_p.Q396H			P23229	ITA6_HUMAN	integrin, alpha 6	396					blood coagulation|cell adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter	integrin complex	protein binding|receptor activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	44			OV - Ovarian serous cystadenocarcinoma(117;0.0979)			ACATGAACCAGCAAGGCAGAT	0.373													27	47					9.04412e-07	1.04362e-06	1	1	0	T	173339741	G	T	173339741	3	4	81	1	0	0	0	0	1	0	0	0	7924	962	34	4	1097	4	ITGA6	2	173339741	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2178	173339741	69859632	2301	5917											
ITGA6	3655	broad.mit.edu	37	2	173344431	173344431	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:173344431G>A	ENST00000375221.2	+	11	1771	c.1568G>A	c.(1567-1569)cGc>cAc	p.R523H	ITGA6_ENST00000409532.1_Missense_Mutation_p.R365H|ITGA6_ENST00000343713.4_Missense_Mutation_p.R479H|ITGA6_ENST00000409080.1_Missense_Mutation_p.R484H|ITGA6_ENST00000264107.7_Missense_Mutation_p.R484H|ITGA6_ENST00000264106.6_Missense_Mutation_p.R523H			P23229	ITA6_HUMAN	integrin, alpha 6	523					blood coagulation|cell adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter	integrin complex	protein binding|receptor activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	44			OV - Ovarian serous cystadenocarcinoma(117;0.0979)			ATTGACCTCCGCCAGAAAACA	0.498													75	109					0	0	1	0	0	A	173344431	G	A	173344431	3	1	81	1	0	0	0	0	1	0	0	0	7924	1087	38	1	1489	1	ITGA6	2	173344431	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	4690	173344431	69854942	2302	5918											
RAPGEF4	11069	broad.mit.edu	37	2	173825907	173825907	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:173825907C>T	ENST00000264111.6	+	8	833	c.646C>T	c.(646-648)Cga>Tga	p.R216*	RAPGEF4_ENST00000473043.1_3'UTR|RAPGEF4_ENST00000538974.1_Nonsense_Mutation_p.R46*|RAPGEF4_ENST00000535187.1_5'UTR|RAPGEF4_ENST00000397087.3_Nonsense_Mutation_p.R73*|RAPGEF4_ENST00000540783.1_Nonsense_Mutation_p.R64*|RAPGEF4_ENST00000409036.1_Nonsense_Mutation_p.R217*|RAPGEF4_ENST00000539331.1_Nonsense_Mutation_p.R64*|RAPGEF4_ENST00000397081.3_Nonsense_Mutation_p.R217*			Q8WZA2	RPGF4_HUMAN	Rap guanine nucleotide exchange factor (GEF) 4	217	DEP.				blood coagulation|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of insulin secretion|regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex|membrane fraction|plasma membrane	cAMP binding|cAMP-dependent protein kinase regulator activity|Ras GTPase binding|Ras guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(14)|lung(13)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47			OV - Ovarian serous cystadenocarcinoma(117;0.194)			CATTCTCTCTCGAGCACCTCA	0.433													37	48					0	0	1	0	0	T	173825907	C	T	173825907	4	4	81	1	0	0	0	0	0	1	0	0	13098	876	31	1	695	1	RAPGEF4	2	173825907	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	481476	173825907	69373466	2303	5919											
RAPGEF4	11069	broad.mit.edu	37	2	173900869	173900869	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:173900869A>G	ENST00000264111.6	+	28	2901	c.2714A>G	c.(2713-2715)cAc>cGc	p.H905R	RAPGEF4_ENST00000538974.1_Missense_Mutation_p.H735R|RAPGEF4_ENST00000535187.1_Missense_Mutation_p.H686R|RAPGEF4_ENST00000397087.3_Missense_Mutation_p.H762R|RAPGEF4_ENST00000540783.1_Missense_Mutation_p.H753R|RAPGEF4_ENST00000409036.1_Intron|RAPGEF4_ENST00000539331.1_Missense_Mutation_p.H753R|RAPGEF4_ENST00000397081.3_Missense_Mutation_p.H906R			Q8WZA2	RPGF4_HUMAN	Rap guanine nucleotide exchange factor (GEF) 4	906	Ras-GEF.				blood coagulation|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of insulin secretion|regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex|membrane fraction|plasma membrane	cAMP binding|cAMP-dependent protein kinase regulator activity|Ras GTPase binding|Ras guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(14)|lung(13)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47			OV - Ovarian serous cystadenocarcinoma(117;0.194)			TCAAGGAACCACAGGGCCTAC	0.478													5	69					0	0	1	0	0	G	173900869	A	G	173900869	3	3	81	1	0	0	0	0	1	0	0	0	13098	159	6	3	2843	3	RAPGEF4	2	173900869	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	74962	173900869	69298504	2304	5920											
ZAK	51776	broad.mit.edu	37	2	174131150	174131150	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:174131150C>A	ENST00000375213.3	+	20	2153	c.2075C>A	c.(2074-2076)cCt>cAt	p.P692H	MLTK_ENST00000409176.2_Missense_Mutation_p.P692H|MLK7-AS1_ENST00000423106.2_RNA|MLK7-AS1_ENST00000422703.1_RNA	NM_016653.2	NP_057737.2																					AATTCTTCTCCTAGAGGAAGA	0.453													9	72					1.58986e-06	1.82794e-06	1	1	0	A	174131150	C	A	174131150	3	1	81	1	0	0	0	0	1	0	0	0	17572	681	24	4	2534	4	ZAK	2	174131150	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	230281	174131150	69068223	2305	5921											
SP3	6670	broad.mit.edu	37	2	174777882	174777882	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:174777882G>A	ENST00000310015.6	-	6	2475	c.1945C>T	c.(1945-1947)Cgc>Tgc	p.R649C	SP3_ENST00000455789.2_Missense_Mutation_p.R596C|SP3_ENST00000418194.2_Missense_Mutation_p.R581C	NM_001172712.1|NM_003111.4	NP_001166183.1|NP_003102.1	Q02447	SP3_HUMAN	Sp3 transcription factor	649					negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	protein binding|zinc ion binding		EWSR1/SP3(3)	NS(2)|large_intestine(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.185)			ACAAAAGGGCGTTCTCCAGAA	0.408													24	38					0	0	1	0	0	A	174777882	G	A	174777882	3	1	81	1	0	0	0	0	1	0	0	0	15019	1145	40	1	408	1	SP3	2	174777882	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	646732	174777882	68421491	2306	5922											
SP3	6670	broad.mit.edu	37	2	174819870	174819870	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:174819870G>T	ENST00000310015.6	-	4	1900	c.1370C>A	c.(1369-1371)cCt>cAt	p.P457H	SP3_ENST00000455789.2_Missense_Mutation_p.P404H|SP3_ENST00000418194.2_Missense_Mutation_p.P389H	NM_001172712.1|NM_003111.4	NP_001166183.1|NP_003102.1	Q02447	SP3_HUMAN	Sp3 transcription factor	457	Transactivation domain (Gln-rich).				negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	protein binding|zinc ion binding		EWSR1/SP3(3)	NS(2)|large_intestine(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.185)			CTGTCCAGAAGGGGTCACTGT	0.433													7	41					8.12818e-05	8.94031e-05	1	1	0	T	174819870	G	T	174819870	3	4	81	1	0	0	0	0	1	0	0	0	15019	1000	35	4	991	4	SP3	2	174819870	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	41988	174819870	68379503	2307	5923											
GPR155	151556	broad.mit.edu	37	2	175301093	175301093	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:175301093G>T	ENST00000392552.2	-	16	2602	c.2364C>A	c.(2362-2364)agC>agA	p.S788R	GPR155_ENST00000295500.4_Missense_Mutation_p.S788R|GPR155_ENST00000459996.1_5'UTR|GPR155_ENST00000392551.2_Missense_Mutation_p.S788R	NM_001267051.1|NM_152529.6	NP_001253980.1|NP_689742.4	Q7Z3F1	GP155_HUMAN	G protein-coupled receptor 155	788	DEP.				intracellular signal transduction|transmembrane transport	integral to membrane				breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	26						CAATTAGCCAGCTCACCAGGT	0.488													32	43					4.74835e-14	6.01385e-14	1	1	0	T	175301093	G	T	175301093	3	4	81	1	0	0	0	0	1	0	0	0	6700	962	34	4	252	4	GPR155	2	175301093	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	481223	175301093	67898280	2308	5924											
GPR155	151556	broad.mit.edu	37	2	175301145	175301145	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:175301145C>A	ENST00000392552.2	-	16	2551		c.e16-1		GPR155_ENST00000295500.4_Splice_Site|GPR155_ENST00000459996.1_Splice_Site|GPR155_ENST00000392551.2_Splice_Site	NM_001267051.1|NM_152529.6	NP_001253980.1|NP_689742.4	Q7Z3F1	GP155_HUMAN	G protein-coupled receptor 155						intracellular signal transduction|transmembrane transport	integral to membrane				breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	26						TGCACCACACCTGTGTCAAAG	0.458													16	33					4.75885e-15	6.06359e-15	1	1	0	A	175301145	C	A	175301145	5	1	81	1	0	0	0	0	0	0	1	0	6700	695	24	4	304	4	GPR155	2	175301145	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	52	175301145	67898228	2309	5925											
GPR155	151556	broad.mit.edu	37	2	175346648	175346648	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:175346648C>T	ENST00000392552.2	-	2	275	c.37G>A	c.(37-39)Gca>Aca	p.A13T	GPR155_ENST00000295500.4_Missense_Mutation_p.A13T|GPR155_ENST00000392551.2_Missense_Mutation_p.A13T	NM_001267051.1|NM_152529.6	NP_001253980.1|NP_689742.4	Q7Z3F1	GP155_HUMAN	G protein-coupled receptor 155	13					intracellular signal transduction|transmembrane transport	integral to membrane				breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	26						ATATTGACTGCAATGGTTAAG	0.408													38	65					0	0	1	0	0	T	175346648	C	T	175346648	3	4	81	1	0	0	0	0	1	0	0	0	6700	710	25	2	2635	2	GPR155	2	175346648	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	45503	175346648	67852725	2310	5926											
WIPF1	7456	broad.mit.edu	37	2	175431873	175431873	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:175431873C>T	ENST00000392547.2	-	7	1480	c.1381G>A	c.(1381-1383)Gat>Aat	p.D461N	WIPF1_ENST00000359761.3_Missense_Mutation_p.D461N|WIPF1_ENST00000392546.2_Missense_Mutation_p.D461N|AC018890.6_ENST00000412835.1_RNA|WIPF1_ENST00000467149.1_5'UTR|WIPF1_ENST00000272746.5_Missense_Mutation_p.D461N|WIPF1_ENST00000409891.1_Missense_Mutation_p.D461N|AC018890.6_ENST00000442996.1_RNA	NM_003387.4	NP_003378.3	O43516	WIPF1_HUMAN	WAS/WASL interacting protein family, member 1	461					actin polymerization or depolymerization|protein complex assembly	cytoplasmic membrane-bounded vesicle	actin binding|profilin binding	p.D461N(1)		NS(1)|breast(1)|endometrium(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)	32						GGTGGCAAATCGGAAATCGGA	0.443													14	34					0	0	1	0	0	T	175431873	C	T	175431873	3	4	81	1	0	0	0	0	1	0	0	0	17427	884	31	1	138	1	WIPF1	2	175431873	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	85225	175431873	67767500	2311	5927											
WIPF1	7456	broad.mit.edu	37	2	175440048	175440048	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:175440048C>A	ENST00000392547.2	-	4	341	c.242G>T	c.(241-243)gGc>gTc	p.G81V	AC010894.5_ENST00000454203.1_RNA|WIPF1_ENST00000359761.3_Missense_Mutation_p.G81V|WIPF1_ENST00000392546.2_Missense_Mutation_p.G81V|AC018890.6_ENST00000412835.1_RNA|WIPF1_ENST00000272746.5_Missense_Mutation_p.G81V|WIPF1_ENST00000409891.1_Missense_Mutation_p.G81V|AC018890.6_ENST00000442996.1_RNA|WIPF1_ENST00000410117.1_Missense_Mutation_p.G81V|WIPF1_ENST00000409415.3_Missense_Mutation_p.G81V	NM_003387.4	NP_003378.3	O43516	WIPF1_HUMAN	WAS/WASL interacting protein family, member 1	81	Gly-rich.				actin polymerization or depolymerization|protein complex assembly	cytoplasmic membrane-bounded vesicle	actin binding|profilin binding			NS(1)|breast(1)|endometrium(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)	32						acctcctccgccaaatccgcc	0.617													30	49					6.38683e-12	7.95227e-12	1	1	0	A	175440048	C	A	175440048	3	1	81	1	0	0	0	0	1	0	0	0	17427	739	26	5	1289	5	WIPF1	2	175440048	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	8175	175440048	67759325	2312	5928											
CHRNA1	1134	broad.mit.edu	37	2	175613338	175613338	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:175613338C>A	ENST00000348749.5	-	8	1289	c.1212G>T	c.(1210-1212)gaG>gaT	p.E404D	CHRNA1_ENST00000261007.5_Missense_Mutation_p.E429D|CHRNA1_ENST00000409219.1_Intron|AC018890.6_ENST00000442996.1_RNA|CHRNA1_ENST00000409542.1_Missense_Mutation_p.E322D	NM_000079.3	NP_000070.1	P02708	ACHA_HUMAN	cholinergic receptor, nicotinic, alpha 1 (muscle)	429					muscle cell homeostasis|neuromuscular junction development|neuromuscular process|neuromuscular synaptic transmission|neuron homeostasis|regulation of action potential in neuron|skeletal muscle contraction|skeletal muscle tissue growth	cell junction|cell surface|neuromuscular junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(3)|prostate(3)|skin(4)	37						ACTTCATGGTCTCTGCGATGT	0.502											OREG0015079	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	61					0.0381472	0.0389402	1	1	0	A	175613338	C	A	175613338	3	1	81	1	0	0	0	0	1	0	0	0	3403	912	32	4	169	4	CHRNA1	2	175613338	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	173290	175613338	67586035	2313	5929											
CHRNA1	1134	broad.mit.edu	37	2	175618430	175618430	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:175618430G>A	ENST00000348749.5	-	6	656	c.579C>T	c.(577-579)agC>agT	p.S193S	CHRNA1_ENST00000409323.1_Silent_p.S193S|CHRNA1_ENST00000261007.5_Silent_p.S218S|CHRNA1_ENST00000409219.1_Silent_p.S193S|AC018890.6_ENST00000442996.1_RNA|CHRNA1_ENST00000409542.1_Silent_p.S111S	NM_000079.3	NP_000070.1	P02708	ACHA_HUMAN	cholinergic receptor, nicotinic, alpha 1 (muscle)	218					muscle cell homeostasis|neuromuscular junction development|neuromuscular process|neuromuscular synaptic transmission|neuron homeostasis|regulation of action potential in neuron|skeletal muscle contraction|skeletal muscle tissue growth	cell junction|cell surface|neuromuscular junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(3)|prostate(3)|skin(4)	37						CCCACTCCCCGCTCTCCATGA	0.582													15	17					0	0	1	0	0	A	175618430	G	A	175618430	2	1	81	1	0	0	0	0	0	0	0	1	3403	1078	38	1		1	CHRNA1	2	175618430	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	5092	175618430	67580943	2314	5930											
HOXD12	3238	broad.mit.edu	37	2	176964817	176964817	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:176964817G>A	ENST00000406506.2	+	1	360	c.288G>A	c.(286-288)gaG>gaA	p.E96E	HOXD12_ENST00000404162.2_Silent_p.E96E			P35452	HXD12_HUMAN	homeobox D12	96						nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(1)|lung(7)|ovary(1)	10			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0521)|READ - Rectum adenocarcinoma(9;0.0678)		GACCCGAAGAGCAGGCTAAGT	0.706													4	7					0	0	1	0	0	A	176964817	G	A	176964817	2	1	81	1	0	0	0	0	0	0	0	1	7362	962	34	2		2	HOXD12	2	176964817	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1346387	176964817	66234556	2315	5931											
HOXD8	3234	broad.mit.edu	37	2	176996304	176996304	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:176996304G>T	ENST00000313173.4	+	2	1464	c.837G>T	c.(835-837)gaG>gaT	p.E279D	HOXD8_ENST00000450510.2_Missense_Mutation_p.E278D|HOXD8_ENST00000429017.1_Missense_Mutation_p.E95D|HOXD8_ENST00000544999.1_Missense_Mutation_p.E278D|HOXD8_ENST00000548663.1_Missense_Mutation_p.E175D|HOXD-AS2_ENST00000440016.2_RNA	NM_001199746.1|NM_019558.3	NP_001186675.1|NP_062458.1	P13378	HXD8_HUMAN	homeobox D8	279					anterior/posterior axis specification, embryo	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(2)|lung(5)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.195)	Colorectal(32;0.0224)|READ - Rectum adenocarcinoma(9;0.0556)		AAGCCCAAGAGCTGGAGGAAG	0.428													12	20					1.08611e-07	1.27405e-07	1	1	0	T	176996304	G	T	176996304	3	4	81	1	0	0	0	0	1	0	0	0	7366	962	34	4	843	4	HOXD8	2	176996304	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	31487	176996304	66203069	2316	5932											
HOXD1	3231	broad.mit.edu	37	2	177054165	177054165	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:177054165G>A	ENST00000331462.4	+	1	859	c.636G>A	c.(634-636)agG>agA	p.R212R		NM_024501.2	NP_078777.1	Q9GZZ0	HXD1_HUMAN	homeobox D1	212						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)	10			OV - Ovarian serous cystadenocarcinoma(117;0.00569)|Epithelial(96;0.0864)|all cancers(119;0.226)	Colorectal(32;0.0226)		AAGTGAAGAGGAATGCCTCTA	0.662													4	14					0	0	1	0	0	A	177054165	G	A	177054165	2	1	81	1	0	0	0	0	0	0	0	1	7359	1165	41	2		2	HOXD1	2	177054165	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	57861	177054165	66145208	2317	5933											
AGPS	8540	broad.mit.edu	37	2	178326678	178326678	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:178326678G>A	ENST00000264167.4	+	9	1074	c.928G>A	c.(928-930)Gta>Ata	p.V310I	AGPS_ENST00000409888.1_Intron	NM_003659.3	NP_003650.1	O00116	ADAS_HUMAN	alkylglycerone phosphate synthase	310	FAD-binding PCMH-type.				ether lipid biosynthetic process	peroxisomal matrix|peroxisomal membrane|plasma membrane	alkylglycerone-phosphate synthase activity|flavin adenine dinucleotide binding|oxidoreductase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0018)|Epithelial(96;0.00919)|all cancers(119;0.0358)			GTTCAGTACTGTAGGAGGATG	0.358													8	53					0	0	1	0	0	A	178326678	G	A	178326678	3	1	81	1	0	0	0	0	1	0	0	0	391	1377	48	2	962	2	AGPS	2	178326678	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1272513	178326678	64872695	2318	5934											
TTC30B	150737	broad.mit.edu	37	2	178415540	178415540	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:178415540C>A	ENST00000408939.3	-	1	2202	c.1952G>T	c.(1951-1953)aGg>aTg	p.R651M		NM_152517.2	NP_689730.2	Q8N4P2	TT30B_HUMAN	tetratricopeptide repeat domain 30B						cell projection organization	cilium	binding			cervix(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	23			OV - Ovarian serous cystadenocarcinoma(117;0.00151)|Epithelial(96;0.00931)|all cancers(119;0.0362)			TTTTAACTGCCTAGACTCATA	0.358													29	82					5.6714e-07	6.57996e-07	1	1	0	A	178415540	C	A	178415540	3	1	81	1	0	0	0	0	1	0	0	0	16761	681	24	4	49	4	TTC30B	2	178415540	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	88862	178415540	64783833	2319	5935											
TTC30B	150737	broad.mit.edu	37	2	178416646	178416646	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:178416646C>A	ENST00000408939.3	-	1	1096	c.846G>T	c.(844-846)gaG>gaT	p.E282D		NM_152517.2	NP_689730.2	Q8N4P2	TT30B_HUMAN	tetratricopeptide repeat domain 30B						cell projection organization	cilium	binding			cervix(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	23			OV - Ovarian serous cystadenocarcinoma(117;0.00151)|Epithelial(96;0.00931)|all cancers(119;0.0362)			CCAACTCTTCCTCTGCCCTGG	0.498													17	152					9.16793e-09	1.09544e-08	1	1	0	A	178416646	C	A	178416646	3	1	81	1	0	0	0	0	1	0	0	0	16761	680	24	4	1155	4	TTC30B	2	178416646	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1106	178416646	64782727	2320	5936											
PDE11A	50940	broad.mit.edu	37	2	178936974	178936974	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:178936974C>A	ENST00000286063.6	-	1	508	c.191G>T	c.(190-192)aGc>aTc	p.S64I	PDE11A_ENST00000358450.4_Intron	NM_016953.3	NP_058649.3	Q9HCR9	PDE11_HUMAN	phosphodiesterase 11A						platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)			TCTGCAGGTGCTGTGAGCCAA	0.627									Primary Pigmented Nodular Adrenocortical Disease, Familial				5	16					0.0215528	0.0221217	1	1	0	A	178936974	C	A	178936974	3	1	81	1	0	0	0	0	1	0	0	0	11678	797	28	4	2690	4	PDE11A	2	178936974	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	520328	178936974	64262399	2321	5937											
PDE11A	50940	broad.mit.edu	37	2	178969154	178969154	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:178969154C>T	ENST00000358450.4	-	2	135	c.37G>A	c.(37-39)Gtg>Atg	p.V13M		NM_001077197.1	NP_001070665.1	Q9HCR9	PDE11_HUMAN	phosphodiesterase 11A	0					platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)			GCACTGAGCACATTTCTGAAT	0.398									Primary Pigmented Nodular Adrenocortical Disease, Familial				10	100					0	0	1	0	0	T	178969154	C	T	178969154	3	4	81	1	0	0	0	0	1	0	0	0	11678	478	17	2	3010	2	PDE11A	2	178969154	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	32180	178969154	64230219	2322	5938											
OSBPL6	114880	broad.mit.edu	37	2	179238699	179238699	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179238699C>A	ENST00000190611.4	+	15	1854	c.1478C>A	c.(1477-1479)tCt>tAt	p.S493Y	OSBPL6_ENST00000409045.3_Missense_Mutation_p.S462Y|OSBPL6_ENST00000315022.2_Missense_Mutation_p.S497Y|OSBPL6_ENST00000357080.4_Missense_Mutation_p.S426Y|OSBPL6_ENST00000409631.1_Missense_Mutation_p.S457Y|OSBPL6_ENST00000392505.2_Missense_Mutation_p.S518Y|OSBPL6_ENST00000359685.3_Missense_Mutation_p.S457Y	NM_032523.3	NP_115912.1	Q9BZF3	OSBL6_HUMAN	oxysterol binding protein-like 6	493					lipid transport		lipid binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			GAGTCTGTTTCTGAGTTCTTT	0.498													27	43					6.07407e-21	7.94272e-21	1	1	0	A	179238699	C	A	179238699	3	1	81	1	0	0	0	0	1	0	0	0	11328	913	32	4	1650	4	OSBPL6	2	179238699	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	269545	179238699	63960674	2323	5939											
OSBPL6	114880	broad.mit.edu	37	2	179247887	179247887	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179247887C>A	ENST00000190611.4	+	17	2134	c.1758C>A	c.(1756-1758)gtC>gtA	p.V586V	OSBPL6_ENST00000409045.3_Silent_p.V555V|OSBPL6_ENST00000315022.2_Silent_p.V590V|OSBPL6_ENST00000409631.1_Silent_p.V550V|OSBPL6_ENST00000392505.2_Silent_p.V611V|OSBPL6_ENST00000359685.3_Silent_p.V550V	NM_032523.3	NP_115912.1	Q9BZF3	OSBL6_HUMAN	oxysterol binding protein-like 6	586					lipid transport		lipid binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			TGTCTAAAGTCTCTATGCCTG	0.507													4	30					0.00909568	0.00944708	1	1	0	A	179247887	C	A	179247887	2	1	81	1	0	0	0	0	0	0	0	1	11328	900	32	4		4	OSBPL6	2	179247887	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	9188	179247887	63951486	2324	5940											
PRKRA	8575	broad.mit.edu	37	2	179308017	179308017	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179308017C>T	ENST00000325748.4	-	5	691	c.491G>A	c.(490-492)aGg>aAg	p.R164K	PRKRA_ENST00000487082.1_Missense_Mutation_p.R139K|PRKRA_ENST00000432031.2_Missense_Mutation_p.R153K|PRKRA_ENST00000438687.3_Missense_Mutation_p.R51K	NM_003690.4	NP_003681.1	O75569	PRKRA_HUMAN	protein kinase, interferon-inducible double stranded RNA dependent activator	164	DRBM 2.|Sufficient for self-association and interaction with TARBP2.				immune response|negative regulation of cell proliferation|production of siRNA involved in RNA interference|response to virus	perinuclear region of cytoplasm	double-stranded RNA binding|enzyme activator activity|protein homodimerization activity			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(2)	19			OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.00634)|all cancers(119;0.0265)			TGACTCTAGCCTGCAAATTGT	0.363													15	47					0	0	1	0	0	T	179308017	C	T	179308017	3	4	81	1	0	0	0	0	1	0	0	0	12576	681	24	2	466	2	PRKRA	2	179308017	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	60130	179308017	63891356	2325	5941											
DFNB59	494513	broad.mit.edu	37	2	179325155	179325155	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179325155A>G	ENST00000409117.3	+	6	1104	c.748A>G	c.(748-750)Aat>Gat	p.N250D	DFNB59_ENST00000375129.4_Missense_Mutation_p.N250D	NM_001042702.3	NP_001036167.1	Q0ZLH3	PJVK_HUMAN	deafness, autosomal recessive 59	250					sensory perception of sound					breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.0159)|all cancers(119;0.0564)			CAGGTTGAGAAATATCCTATT	0.343													7	50					0	0	1	0	0	G	179325155	A	G	179325155	3	3	81	1	0	0	0	0	1	0	0	0	4484	14	1	3	766	3	DFNB59	2	179325155	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	17138	179325155	63874218	2326	5942											
TTN	7273	broad.mit.edu	37	2	179396215	179396215	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179396215G>A	ENST00000589042.1	-	358	105351	c.105127C>T	c.(105127-105129)Cgc>Tgc	p.R35043C	TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R26170C|TTN-AS1_ENST00000604571.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R33402C|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000589355.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R26103C|TTN_ENST00000460472.2_Missense_Mutation_p.R25978C|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R32475C|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000590040.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	33402							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCATCTCTGCGTTGGGAAGCA	0.488													36	66					0	0	1	0	0	A	179396215	G	A	179396215	3	1	81	1	0	0	0	0	1	0	0	0	16797	1145	40	1	2872	1	TTN	2	179396215	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	71060	179396215	63803158	2327	5943											
TTN	7273	broad.mit.edu	37	2	179403356	179403356	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179403356G>T	ENST00000589042.1	-	354	99424	c.99200C>A	c.(99199-99201)aCt>aAt	p.T33067N	TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.T24194N|TTN_ENST00000591111.1_Missense_Mutation_p.T31426N|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.T24127N|TTN_ENST00000460472.2_Missense_Mutation_p.T24002N|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.T30499N|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000415561.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000590040.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	31426							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCATACTCAGTAGCTTCCAG	0.433													60	85					1.19403e-26	1.58354e-26	1	1	0	T	179403356	G	T	179403356	3	4	81	1	0	0	0	0	1	0	0	0	16797	1029	36	4	8815	4	TTN	2	179403356	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	7141	179403356	63796017	2328	5944											
TTN	7273	broad.mit.edu	37	2	179403465	179403465	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179403465G>A	ENST00000589042.1	-	354	99315	c.99091C>T	c.(99091-99093)Ctt>Ttt	p.L33031F	TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.L24158F|TTN_ENST00000591111.1_Missense_Mutation_p.L31390F|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.L24091F|TTN_ENST00000460472.2_Missense_Mutation_p.L23966F|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.L30463F|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000415561.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000590040.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	31390							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAGTATCCAAGAATTTCTTTA	0.408													54	114					0	0	1	0	0	A	179403465	G	A	179403465	3	1	81	1	0	0	0	0	1	0	0	0	16797	942	33	2	8924	2	TTN	2	179403465	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	109	179403465	63795908	2329	5945											
TTN	7273	broad.mit.edu	37	2	179409203	179409203	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179409203A>G	ENST00000589042.1	-	345	95977	c.95753T>C	c.(95752-95754)gTt>gCt	p.V31918A	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V23045A|TTN_ENST00000591111.1_Missense_Mutation_p.V30277A|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V22978A|TTN_ENST00000460472.2_Missense_Mutation_p.V22853A|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V29350A|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	30277	Ig-like 141.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGTATCCACAACTCTTGGAGC	0.403													10	92					0	0	1	0	0	G	179409203	A	G	179409203	3	3	81	1	0	0	0	0	1	0	0	0	16797	43	2	3	12298	3	TTN	2	179409203	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	5738	179409203	63790170	2330	5946											
TTN	7273	broad.mit.edu	37	2	179413090	179413090	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179413090A>G	ENST00000589042.1	-	339	93487	c.93263T>C	c.(93262-93264)tTc>tCc	p.F31088S	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.F22215S|TTN_ENST00000591111.1_Missense_Mutation_p.F29447S|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.F22148S|TTN_ENST00000460472.2_Missense_Mutation_p.F22023S|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.F28520S|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	29447	Ig-like 139.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGAAACACGGAAATAGTACGG	0.478													15	151					0	0	1	0	0	G	179413090	A	G	179413090	3	3	81	1	0	0	0	0	1	0	0	0	16797	246	9	3	14812	3	TTN	2	179413090	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	3887	179413090	63786283	2331	5947											
TTN	7273	broad.mit.edu	37	2	179414088	179414088	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179414088G>A	ENST00000589042.1	-	339	92489	c.92265C>T	c.(92263-92265)atC>atT	p.I30755I	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Silent_p.I21882I|TTN_ENST00000591111.1_Silent_p.I29114I|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|RP11-65L3.2_ENST00000603415.1_RNA|TTN_ENST00000359218.5_Silent_p.I21815I|TTN_ENST00000460472.2_Silent_p.I21690I|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Silent_p.I28187I|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	29114							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCTTTCAAGGATATACTGTT	0.443													25	64					0	0	1	0	0	A	179414088	G	A	179414088	2	1	81	1	0	0	0	0	0	0	0	1	16797	1164	41	2		2	TTN	2	179414088	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	998	179414088	63785285	2332	5948											
TTN	7273	broad.mit.edu	37	2	179418746	179418746	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179418746G>A	ENST00000589042.1	-	333	89316	c.89092C>T	c.(89092-89094)Ctc>Ttc	p.L29698F	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.L20825F|TTN_ENST00000591111.1_Missense_Mutation_p.L28057F|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.L20758F|TTN_ENST00000460472.2_Missense_Mutation_p.L20633F|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.L27130F|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	28057	Fibronectin type-III 116.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTTCTGTGAGTCCTGTTACT	0.408													40	76					0	0	1	0	0	A	179418746	G	A	179418746	3	1	81	1	0	0	0	0	1	0	0	0	16797	1029	36	2	19007	2	TTN	2	179418746	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	4658	179418746	63780627	2333	5949											
TTN	7273	broad.mit.edu	37	2	179419595	179419595	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179419595G>T	ENST00000589042.1	-	331	88815	c.88591C>A	c.(88591-88593)Ctt>Att	p.L29531I	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.L20658I|TTN_ENST00000591111.1_Missense_Mutation_p.L27890I|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.L20591I|TTN_ENST00000460472.2_Missense_Mutation_p.L20466I|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.L26963I|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	27890	Fibronectin type-III 115.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CACCTACCAAGGATCTGTACT	0.398													13	33					2.27111e-07	2.65192e-07	1	1	0	T	179419595	G	T	179419595	3	4	81	1	0	0	0	0	1	0	0	0	16797	1000	35	4	19516	4	TTN	2	179419595	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	849	179419595	63779778	2334	5950											
TTN	7273	broad.mit.edu	37	2	179424591	179424591	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179424591A>G	ENST00000589042.1	-	326	86492	c.86268T>C	c.(86266-86268)atT>atC	p.I28756I	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Silent_p.I19883I|TTN_ENST00000591111.1_Silent_p.I27115I|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Silent_p.I19816I|TTN_ENST00000460472.2_Silent_p.I19691I|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Silent_p.I26188I|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	27115	Fibronectin type-III 109.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTCACTGTCAATATCAAATA	0.438													13	121					0	0	1	0	0	G	179424591	A	G	179424591	2	3	81	1	0	0	0	0	0	0	0	1	16797	126	5	3		3	TTN	2	179424591	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	4996	179424591	63774782	2335	5951											
TTN	7273	broad.mit.edu	37	2	179427755	179427755	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179427755G>A	ENST00000589042.1	-	326	83328	c.83104C>T	c.(83104-83106)Cga>Tga	p.R27702*	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Nonsense_Mutation_p.R18829*|TTN_ENST00000591111.1_Nonsense_Mutation_p.R26061*|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Nonsense_Mutation_p.R18762*|TTN_ENST00000460472.2_Nonsense_Mutation_p.R18637*|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.R25134*|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	26061	Fibronectin type-III 102.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.R18762*(1)|p.R25132*(1)|p.R18637*(1)|p.R18829*(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGTTCTGGTCGACCTTTGATA	0.453													69	85					0	0	1	0	0	A	179427755	G	A	179427755	4	1	81	1	0	0	0	0	0	1	0	0	16797	1066	37	1	25023	1	TTN	2	179427755	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	3164	179427755	63771618	2336	5952											
TTN	7273	broad.mit.edu	37	2	179428603	179428603	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179428603T>C	ENST00000589042.1	-	326	82480	c.82256A>G	c.(82255-82257)cAg>cGg	p.Q27419R	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.Q18546R|TTN_ENST00000591111.1_Missense_Mutation_p.Q25778R|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.Q18479R|TTN_ENST00000460472.2_Missense_Mutation_p.Q18354R|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.Q24851R|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	25778							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGTTGAAACCTGGGTCCAAGA	0.413													9	72					0	0	1	0	0	C	179428603	T	C	179428603	3	2	81	1	0	0	0	0	1	0	0	0	16797	1580	55	3	25871	3	TTN	2	179428603	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	848	179428603	63770770	2337	5953											
TTN	7273	broad.mit.edu	37	2	179429822	179429822	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179429822G>A	ENST00000589042.1	-	326	81261	c.81037C>T	c.(81037-81039)Cga>Tga	p.R27013*	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Nonsense_Mutation_p.R18140*|TTN_ENST00000591111.1_Nonsense_Mutation_p.R25372*|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Nonsense_Mutation_p.R18073*|TTN_ENST00000460472.2_Nonsense_Mutation_p.R17948*|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.R24445*|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	25372	Fibronectin type-III 97.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTTGTATCTCGCTTCTCTACA	0.428													42	75					0	0	1	0	0	A	179429822	G	A	179429822	4	1	81	1	0	0	0	0	0	1	0	0	16797	1095	38	1	27090	1	TTN	2	179429822	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1219	179429822	63769551	2338	5954											
TTN	7273	broad.mit.edu	37	2	179433764	179433764	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179433764G>A	ENST00000589042.1	-	326	77319	c.77095C>T	c.(77095-77097)Cca>Tca	p.P25699S	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P16826S|TTN_ENST00000591111.1_Missense_Mutation_p.P24058S|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P16759S|TTN_ENST00000460472.2_Missense_Mutation_p.P16634S|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P23131S|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	24058	Ig-like 125.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGAGGTTGTGGCACTTCTGCA	0.438													63	77					0	0	1	0	0	A	179433764	G	A	179433764	3	1	81	1	0	0	0	0	1	0	0	0	16797	1203	42	2	31032	2	TTN	2	179433764	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	3942	179433764	63765609	2339	5955											
TTN	7273	broad.mit.edu	37	2	179435367	179435367	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179435367G>A	ENST00000589042.1	-	326	75716	c.75492C>T	c.(75490-75492)gaC>gaT	p.D25164D	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Silent_p.D16291D|TTN_ENST00000591111.1_Silent_p.D23523D|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Silent_p.D16224D|TTN_ENST00000460472.2_Silent_p.D16099D|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Silent_p.D22596D|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	23523	Fibronectin type-III 83.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGGTGGCAAAGTCGGTGCTCT	0.408													30	56					0	0	1	0	0	A	179435367	G	A	179435367	2	1	81	1	0	0	0	0	0	0	0	1	16797	1020	36	2		2	TTN	2	179435367	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1603	179435367	63764006	2340	5956											
TTN	7273	broad.mit.edu	37	2	179436581	179436581	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179436581T>C	ENST00000589042.1	-	326	74502	c.74278A>G	c.(74278-74280)Act>Gct	p.T24760A	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.T15887A|TTN_ENST00000591111.1_Missense_Mutation_p.T23119A|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.T15820A|TTN_ENST00000460472.2_Missense_Mutation_p.T15695A|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.T22192A|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	23119	Fibronectin type-III 80.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTACTCTAGTTGTCTGCTTC	0.438													46	82					0	0	1	0	0	C	179436581	T	C	179436581	3	2	81	1	0	0	0	0	1	0	0	0	16797	1725	60	3	33849	3	TTN	2	179436581	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	1214	179436581	63762792	2341	5957											
TTN	7273	broad.mit.edu	37	2	179438273	179438273	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179438273G>A	ENST00000589042.1	-	326	72810	c.72586C>T	c.(72586-72588)Cgt>Tgt	p.R24196C	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R15323C|TTN_ENST00000591111.1_Missense_Mutation_p.R22555C|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R15256C|TTN_ENST00000460472.2_Missense_Mutation_p.R15131C|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R21628C|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	22555	Ig-like 121.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCCATGACACGGAATATGTAT	0.458													95	136					0	0	1	0	0	A	179438273	G	A	179438273	3	1	81	1	0	0	0	0	1	0	0	0	16797	1116	39	1	35541	1	TTN	2	179438273	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1692	179438273	63761100	2342	5958											
TTN	7273	broad.mit.edu	37	2	179446359	179446359	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179446359T>C	ENST00000589042.1	-	316	66860	c.66636A>G	c.(66634-66636)ctA>ctG	p.L22212L	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Silent_p.L13339L|TTN_ENST00000591111.1_Silent_p.L20571L|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Silent_p.L13272L|TTN_ENST00000460472.2_Silent_p.L13147L|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Silent_p.L19644L|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	20571	Fibronectin type-III 61.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGGTTTTCTGTAGATTCTGTG	0.478													8	23					0	0	1	0	0	C	179446359	T	C	179446359	2	2	81	1	0	0	0	0	0	0	0	1	16797	1625	57	3		3	TTN	2	179446359	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	8086	179446359	63753014	2343	5959											
TTN	7273	broad.mit.edu	37	2	179446770	179446770	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179446770G>T	ENST00000589042.1	-	315	66550	c.66326C>A	c.(66325-66327)cCt>cAt	p.P22109H	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P13236H|TTN_ENST00000591111.1_Missense_Mutation_p.P20468H|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P13169H|TTN_ENST00000460472.2_Missense_Mutation_p.P13044H|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P19541H|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	20468	Fibronectin type-III 60.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.P19539H(1)|p.P13236H(1)|p.P13236N(1)|p.P13169N(1)|p.P19541N(1)|p.P19541H(1)|p.P13044N(1)|p.P19539N(1)|p.P13044H(1)|p.P13169H(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCTATAATAGGTTTTCTGTT	0.448													8	144					0.000442599	0.000477972	1	1	0	T	179446770	G	T	179446770	3	4	81	1	0	0	0	0	1	0	0	0	16797	1000	35	4	41845	4	TTN	2	179446770	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	411	179446770	63752603	2344	5960											
TTN	7273	broad.mit.edu	37	2	179452805	179452805	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179452805G>A	ENST00000589042.1	-	305	63553	c.63329C>T	c.(63328-63330)gCg>gTg	p.A21110V	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.A12237V|TTN_ENST00000591111.1_Missense_Mutation_p.A19469V|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.A12170V|TTN_ENST00000460472.2_Missense_Mutation_p.A12045V|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A18542V|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	19469	Fibronectin type-III 53.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATCAGGAGACGCATCTGCTAT	0.453													31	33					0	0	1	0	0	A	179452805	G	A	179452805	3	1	81	1	0	0	0	0	1	0	0	0	16797	1087	38	1	44882	1	TTN	2	179452805	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	6035	179452805	63746568	2345	5961											
TTN	7273	broad.mit.edu	37	2	179453593	179453593	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179453593T>C	ENST00000589042.1	-	304	63083	c.62859A>G	c.(62857-62859)aaA>aaG	p.K20953K	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Silent_p.K12080K|TTN_ENST00000591111.1_Silent_p.K19312K|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Silent_p.K12013K|TTN_ENST00000460472.2_Silent_p.K11888K|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Silent_p.K18385K|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	19312	Ig-like 112.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTATGACTGGTTTACTTTCTG	0.428													14	42					0	0	1	0	0	C	179453593	T	C	179453593	2	2	81	1	0	0	0	0	0	0	0	1	16797	1722	60	3		3	TTN	2	179453593	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	788	179453593	63745780	2346	5962											
TTN	7273	broad.mit.edu	37	2	179455593	179455593	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179455593C>T	ENST00000589042.1	-	304	61083	c.60859G>A	c.(60859-60861)Gca>Aca	p.A20287T	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.A11414T|TTN_ENST00000591111.1_Missense_Mutation_p.A18646T|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.A11347T|TTN_ENST00000460472.2_Missense_Mutation_p.A11222T|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A17719T|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	18646	Ig-like 111.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACTGTTGCTGCATTTTCAGTA	0.473													40	47					0	0	1	0	0	T	179455593	C	T	179455593	3	4	81	1	0	0	0	0	1	0	0	0	16797	710	25	2	47356	2	TTN	2	179455593	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2000	179455593	63743780	2347	5963											
TTN	7273	broad.mit.edu	37	2	179456584	179456584	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179456584C>A	ENST00000589042.1	-	303	60186	c.59962G>T	c.(59962-59964)Gat>Tat	p.D19988Y	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D11115Y|TTN_ENST00000591111.1_Missense_Mutation_p.D18347Y|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D11048Y|TTN_ENST00000460472.2_Missense_Mutation_p.D10923Y|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D17420Y|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589234.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	18347	Fibronectin type-III 44.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTGTCAACATCTACATGGTGC	0.413													20	35					1.96292e-10	2.40212e-10	1	1	0	A	179456584	C	A	179456584	3	1	81	1	0	0	0	0	1	0	0	0	16797	913	32	4	48257	4	TTN	2	179456584	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	991	179456584	63742789	2348	5964											
TTN	7273	broad.mit.edu	37	2	179467258	179467258	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179467258G>T	ENST00000589042.1	-	283	55095	c.54871C>A	c.(54871-54873)Cta>Ata	p.L18291I	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.L9418I|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.L16650I|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.L9351I|TTN_ENST00000460472.2_Missense_Mutation_p.L9226I|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.L15723I|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589234.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	16650	Fibronectin type-III 32.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCCATCCTAGTGAGATGCTT	0.398													7	9					0.00198382	0.00209725	1	1	0	T	179467258	G	T	179467258	3	4	81	1	0	0	0	0	1	0	0	0	16797	1020	36	4	53142	4	TTN	2	179467258	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	10674	179467258	63732115	2349	5965											
TTN	7273	broad.mit.edu	37	2	179474164	179474164	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179474164C>A	ENST00000589042.1	-	273	52097	c.51873G>T	c.(51871-51873)gaG>gaT	p.E17291D	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E8418D|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E15650D|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E8351D|TTN_ENST00000460472.2_Missense_Mutation_p.E8226D|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E14723D|TTN-AS1_ENST00000589234.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	15650	Fibronectin type-III 25.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCTTAATTTCCTCTGGTACAA	0.413													11	36					6.40141e-05	7.07494e-05	1	1	0	A	179474164	C	A	179474164	3	1	81	1	0	0	0	0	1	0	0	0	16797	680	24	4	56180	4	TTN	2	179474164	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	6906	179474164	63725209	2350	5966											
TTN	7273	broad.mit.edu	37	2	179476842	179476842	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179476842G>A	ENST00000589042.1	-	267	50520	c.50296C>T	c.(50296-50298)Cga>Tga	p.R16766*	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Nonsense_Mutation_p.R7893*|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000591111.1_Nonsense_Mutation_p.R15125*|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000359218.5_Nonsense_Mutation_p.R7826*|TTN_ENST00000460472.2_Nonsense_Mutation_p.R7701*|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.R14198*|TTN-AS1_ENST00000589234.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	15125	Ig-like 101.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCAACATGTCGTTTTGTCACA	0.403													8	10					0	0	1	0	0	A	179476842	G	A	179476842	4	1	81	1	0	0	0	0	0	1	0	0	16797	1153	40	1	57781	1	TTN	2	179476842	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2678	179476842	63722531	2351	5967											
TTN	7273	broad.mit.edu	37	2	179477749	179477749	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179477749A>G	ENST00000589042.1	-	265	49923	c.49699T>C	c.(49699-49701)Tca>Cca	p.S16567P	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.S7694P|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.S14926P|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.S7627P|TTN_ENST00000460472.2_Missense_Mutation_p.S7502P|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S13999P|TTN-AS1_ENST00000589234.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	14926	Fibronectin type-III 20.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AACCTTACTGATGTTTTGCCT	0.408													24	29					0	0	1	0	0	G	179477749	A	G	179477749	3	3	81	1	0	0	0	0	1	0	0	0	16797	333	12	3	58386	3	TTN	2	179477749	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	907	179477749	63721624	2352	5968											
TTN	7273	broad.mit.edu	37	2	179478634	179478634	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179478634G>T	ENST00000589042.1	-	263	49600	c.49376C>A	c.(49375-49377)cCt>cAt	p.P16459H	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P7586H|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.P14818H|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P7519H|TTN_ENST00000460472.2_Missense_Mutation_p.P7394H|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P13891H|TTN-AS1_ENST00000589234.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	14818	Fibronectin type-III 19.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GATATCAGAAGGTTCTAGGCG	0.433													43	73					1.61004e-24	2.1256e-24	1	1	0	T	179478634	G	T	179478634	3	4	81	1	0	0	0	0	1	0	0	0	16797	1000	35	4	58717	4	TTN	2	179478634	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	885	179478634	63720739	2353	5969											
TTN	7273	broad.mit.edu	37	2	179483176	179483176	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179483176A>C	ENST00000589042.1	-	252	47233	c.47009T>G	c.(47008-47010)tTt>tGt	p.F15670C	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.F6797C|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.F14029C|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.F6730C|TTN_ENST00000460472.2_Missense_Mutation_p.F6605C|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.F13102C	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	14029	Ig-like 98.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCACCATCAAATGTTTCTGT	0.388													22	38					0	0	1	0	0	C	179483176	A	C	179483176	3	2	81	1	0	0	0	0	1	0	0	0	16797	14	1	5	61128	5	TTN	2	179483176	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	4542	179483176	63716197	2354	5970											
TTN	7273	broad.mit.edu	37	2	179483382	179483382	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179483382T>C	ENST00000589042.1	-	251	47119	c.46895A>G	c.(46894-46896)aAa>aGa	p.K15632R	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.K6759R|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.K13991R|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.K6692R|TTN_ENST00000460472.2_Missense_Mutation_p.K6567R|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.K13064R	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	13991	Ig-like 98.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATACCTCCCTTTGTCTCCTTT	0.348													10	103					0	0	1	0	0	C	179483382	T	C	179483382	3	2	81	1	0	0	0	0	1	0	0	0	16797	1841	64	3	61246	3	TTN	2	179483382	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	206	179483382	63715991	2355	5971											
TTN	7273	broad.mit.edu	37	2	179494054	179494054	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179494054C>A	ENST00000589042.1	-	240	44622	c.44398G>T	c.(44398-44400)Ggg>Tgg	p.G14800W	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G5927W|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G13159W|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G5860W|TTN_ENST00000460472.2_Missense_Mutation_p.G5735W|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G12232W	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	13159	Fibronectin type-III 6.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGTTTCTTCCCTTTGAGATAC	0.478													5	38					0.00116845	0.00124301	1	1	0	A	179494054	C	A	179494054	3	1	81	1	0	0	0	0	1	0	0	0	16797	681	24	4	63787	4	TTN	2	179494054	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	10672	179494054	63705319	2356	5972											
TTN	7273	broad.mit.edu	37	2	179494085	179494085	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179494085G>A	ENST00000589042.1	-	240	44591	c.44367C>T	c.(44365-44367)taC>taT	p.Y14789Y	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Silent_p.Y5916Y|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000591111.1_Silent_p.Y13148Y|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000359218.5_Silent_p.Y5849Y|TTN_ENST00000460472.2_Silent_p.Y5724Y|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342992.6_Silent_p.Y12221Y	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	13148	Fibronectin type-III 6.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGATATCTTCGTAGGAGAGCT	0.488													4	49					0	0	1	0	0	A	179494085	G	A	179494085	2	1	81	1	0	0	0	0	0	0	0	1	16797	1140	40	1		1	TTN	2	179494085	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	31	179494085	63705288	2357	5973											
TTN	7273	broad.mit.edu	37	2	179495647	179495647	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179495647G>A	ENST00000589042.1	-	238	44262	c.44038C>T	c.(44038-44040)Ccc>Tcc	p.P14680S	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P5807S|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.P13039S|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P5740S|TTN_ENST00000460472.2_Missense_Mutation_p.P5615S|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P12112S	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	13039	Ig-like 96.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTGTGCAGGGGTCGCACCAGT	0.493													25	37					0	0	1	0	0	A	179495647	G	A	179495647	3	1	81	1	0	0	0	0	1	0	0	0	16797	1261	44	2	64155	2	TTN	2	179495647	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1562	179495647	63703726	2358	5974											
TTN	7273	broad.mit.edu	37	2	179499996	179499996	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179499996C>T	ENST00000589042.1	-	228	42144	c.41920G>A	c.(41920-41922)Gtt>Att	p.V13974I	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V5101I|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.V12333I|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V5034I|TTN_ENST00000460472.2_Missense_Mutation_p.V4909I|TTN_ENST00000342992.6_Missense_Mutation_p.V11406I	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	12333	Ig-like 95.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TAAATGGTAACGTCCTCTATT	0.413													19	39					0	0	1	0	0	T	179499996	C	T	179499996	3	4	81	1	0	0	0	0	1	0	0	0	16797	536	19	1	66313	1	TTN	2	179499996	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	4349	179499996	63699377	2359	5975											
TTN	7273	broad.mit.edu	37	2	179500774	179500774	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179500774C>T	ENST00000589042.1	-	226	41748	c.41524G>A	c.(41524-41526)Gca>Aca	p.A13842T	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.A4969T|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.A12201T|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.A4902T|TTN_ENST00000460472.2_Missense_Mutation_p.A4777T|TTN_ENST00000342992.6_Missense_Mutation_p.A11274T	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	12201							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTGTCATCTGCATCGTTGATG	0.498													8	80					0	0	1	0	0	T	179500774	C	T	179500774	3	4	81	1	0	0	0	0	1	0	0	0	16797	710	25	2	66717	2	TTN	2	179500774	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	778	179500774	63698599	2360	5976											
TTN	7273	broad.mit.edu	37	2	179500811	179500811	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179500811G>A	ENST00000589042.1	-	226	41711	c.41487C>T	c.(41485-41487)ggC>ggT	p.G13829G	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Silent_p.G4956G|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000591111.1_Silent_p.G12188G|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000359218.5_Silent_p.G4889G|TTN_ENST00000460472.2_Silent_p.G4764G|TTN_ENST00000342992.6_Silent_p.G11261G	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	12188	Ig-like 94.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.G11261G(1)|p.G4889G(1)|p.G4956G(1)|p.G4764G(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGCCAATGACGCCTGGCACAA	0.507													22	49					0	0	1	0	0	A	179500811	G	A	179500811	2	1	81	1	0	0	0	0	0	0	0	1	16797	1074	38	1		1	TTN	2	179500811	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	37	179500811	63698562	2361	5977											
TTN	7273	broad.mit.edu	37	2	179500846	179500846	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179500846T>C	ENST00000589042.1	-	226	41676	c.41452A>G	c.(41452-41454)Att>Gtt	p.I13818V	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.I4945V|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.I12177V|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.I4878V|TTN_ENST00000460472.2_Missense_Mutation_p.I4753V|TTN_ENST00000342992.6_Missense_Mutation_p.I11250V	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	12177	Ig-like 94.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCCACCACAATCTTGCCATCC	0.512													4	48					0	0	1	0	0	C	179500846	T	C	179500846	3	2	81	1	0	0	0	0	1	0	0	0	16797	1435	50	3	66789	3	TTN	2	179500846	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	35	179500846	63698527	2362	5978											
TTN	7273	broad.mit.edu	37	2	179528763	179528763	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179528763G>A	ENST00000589042.1	-	169	36567	c.36343C>T	c.(36343-36345)Cct>Tct	p.P12115S	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342992.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	10264	Ig-like 80.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGGACTTCAGGCTTTTTAGGA	0.383													29	61					0	0	1	0	0	A	179528763	G	A	179528763	3	1	81	1	0	0	0	0	1	0	0	0	16797	1218	42	2		2	TTN	2	179528763	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	27917	179528763	63670610	2363	5979											
TTN	7273	broad.mit.edu	37	2	179528782	179528782	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179528782C>T	ENST00000589042.1	-	169	36548	c.36324G>A	c.(36322-36324)tcG>tcA	p.S12108S	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342992.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	10257	Ig-like 80.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GAGGCACCACCGACACTTTCT	0.378													6	80					0	0	1	0	0	T	179528782	C	T	179528782	2	4	81	1	0	0	0	0	0	0	0	1	16797	667	23	1		1	TTN	2	179528782	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	19	179528782	63670591	2364	5980											
TTN	7273	broad.mit.edu	37	2	179542594	179542594	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179542594C>T	ENST00000589042.1	-	146	34269	c.34045G>A	c.(34045-34047)Gag>Aag	p.E11349K	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E11032K|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E10105K	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	11032	Glu-rich.|Pro-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGAACTTCCTCTTCCTGAGGT	0.383													27	50					0	0	1	0	0	T	179542594	C	T	179542594	3	4	81	1	0	0	0	0	1	0	0	0	16797	922	32	2	70352	2	TTN	2	179542594	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	13812	179542594	63656779	2365	5981											
TTN	7273	broad.mit.edu	37	2	179553506	179553506	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179553506C>T	ENST00000589042.1	-	126	32320		c.e126-1		TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000591111.1_Splice_Site|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342992.6_Splice_Site	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin								ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GAGACTTCAGCTTTAAGAAAG	0.368													22	17					0	0	1	0	0	T	179553506	C	T	179553506	5	4	81	1	0	0	0	0	0	0	1	0	16797	811	28	2	72382	2	TTN	2	179553506	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	10912	179553506	63645867	2366	5982											
TTN	7273	broad.mit.edu	37	2	179574469	179574469	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179574469G>A	ENST00000589042.1	-	99	28801	c.28577C>T	c.(28576-28578)gCc>gTc	p.A9526V	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.A9209V|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A8282V	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	9209							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTGTACCAGGCAACAGTTAT	0.403													28	57					0	0	1	0	0	A	179574469	G	A	179574469	3	1	81	1	0	0	0	0	1	0	0	0	16797	1203	42	2	76008	2	TTN	2	179574469	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	20963	179574469	63624904	2367	5983											
TTN	7273	broad.mit.edu	37	2	179576705	179576705	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179576705T>C	ENST00000589042.1	-	96	28076	c.27852A>G	c.(27850-27852)ggA>ggG	p.G9284G	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000591111.1_Silent_p.G8967G|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342992.6_Silent_p.G8040G	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	8967	Ig-like 76.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAGAAACTTCTCCCACGCTGT	0.343													11	92					0	0	1	0	0	C	179576705	T	C	179576705	2	2	81	1	0	0	0	0	0	0	0	1	16797	1538	54	3		3	TTN	2	179576705	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	2236	179576705	63622668	2368	5984											
TTN	7273	broad.mit.edu	37	2	179577432	179577432	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179577432T>C	ENST00000589042.1	-	94	27544	c.27320A>G	c.(27319-27321)tAc>tGc	p.Y9107C	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.Y8790C|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.Y7863C	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	8790	Ig-like 74.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACCTTTTATGTAGAGATGTGT	0.338													31	44					0	0	1	0	0	C	179577432	T	C	179577432	3	2	81	1	0	0	0	0	1	0	0	0	16797	1638	57	3	77285	3	TTN	2	179577432	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	727	179577432	63621941	2369	5985											
TTN	7273	broad.mit.edu	37	2	179581942	179581942	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179581942C>T	ENST00000589042.1	-	88	25743	c.25519G>A	c.(25519-25521)Gta>Ata	p.V8507I	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.V8190I|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.V7263I	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	8190	Ig-like 67.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTATTTTCTACCAAAGTCATC	0.458													13	30					0	0	1	0	0	T	179581942	C	T	179581942	3	4	81	1	0	0	0	0	1	0	0	0	16797	507	18	2	79110	2	TTN	2	179581942	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	4510	179581942	63617431	2370	5986											
TTN	7273	broad.mit.edu	37	2	179582375	179582375	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179582375G>T	ENST00000589042.1	-	87	25450	c.25226C>A	c.(25225-25227)tCt>tAt	p.S8409Y	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.S8092Y|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.S7165Y	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	8092	Ig-like 66.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATGAACAAAAGATGTCTGCAA	0.418													12	18					2.80697e-09	3.37799e-09	1	1	0	T	179582375	G	T	179582375	3	4	81	1	0	0	0	0	1	0	0	0	16797	942	33	4	79407	4	TTN	2	179582375	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	433	179582375	63616998	2371	5987											
TTN	7273	broad.mit.edu	37	2	179583670	179583670	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179583670G>T	ENST00000589042.1	-	84	24481	c.24257C>A	c.(24256-24258)tCt>tAt	p.S8086Y	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.S7769Y|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.S6842Y	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	7769	Ig-like 63.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AACTTCCACAGAATCAGGGGT	0.468													11	10					2.80697e-09	3.37799e-09	1	1	0	T	179583670	G	T	179583670	3	4	81	1	0	0	0	0	1	0	0	0	16797	942	33	4	80388	4	TTN	2	179583670	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1295	179583670	63615703	2372	5988											
TTN	7273	broad.mit.edu	37	2	179584372	179584372	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179584372G>T	ENST00000589042.1	-	82	24071	c.23847C>A	c.(23845-23847)ccC>ccA	p.P7949P	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Silent_p.P7632P|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Silent_p.P6705P	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	7632	Ig-like 62.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTCGGCACAGGGGATTTTAA	0.408													13	110					2.27111e-07	2.65192e-07	1	1	0	T	179584372	G	T	179584372	2	4	81	1	0	0	0	0	0	0	0	1	16797	987	35	4		4	TTN	2	179584372	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	702	179584372	63615001	2373	5989											
TTN	7273	broad.mit.edu	37	2	179587193	179587193	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179587193G>A	ENST00000589042.1	-	77	22545	c.22321C>T	c.(22321-22323)Cga>Tga	p.R7441*	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Nonsense_Mutation_p.R7124*|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Nonsense_Mutation_p.R6197*	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	7124	Ig-like 56.			S -> N (in Ref. 1; CAA62189).			ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.R6197*(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCATTTAATCGACAAGTGAGT	0.418													25	59					0	0	1	0	0	A	179587193	G	A	179587193	4	1	81	1	0	0	0	0	0	1	0	0	16797	1066	37	1	82352	1	TTN	2	179587193	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2821	179587193	63612180	2374	5990											
TTN	7273	broad.mit.edu	37	2	179587650	179587650	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179587650C>T	ENST00000589042.1	-	76	22200	c.21976G>A	c.(21976-21978)Gtt>Att	p.V7326I	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.V7009I|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.V6082I	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	7009	Ig-like 55.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGTTCCGTAACAAAATAAGGC	0.403													5	17					0	0	1	0	0	T	179587650	C	T	179587650	3	4	81	1	0	0	0	0	1	0	0	0	16797	478	17	2	82701	2	TTN	2	179587650	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	457	179587650	63611723	2375	5991											
TTN	7273	broad.mit.edu	37	2	179588275	179588275	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179588275G>A	ENST00000589042.1	-	74	21776	c.21552C>T	c.(21550-21552)aaC>aaT	p.N7184N	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Silent_p.N6867N|RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Silent_p.N5940N	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	6867	Ig-like 53.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAAAATAGATGTTGCACCGGT	0.433													8	37					0	0	1	0	0	A	179588275	G	A	179588275	2	1	81	1	0	0	0	0	0	0	0	1	16797	1368	48	2		2	TTN	2	179588275	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	625	179588275	63611098	2376	5992											
TTN	7273	broad.mit.edu	37	2	179590617	179590617	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179590617G>A	ENST00000589042.1	-	70	20656	c.20432C>T	c.(20431-20433)tCc>tTc	p.S6811F	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.S6494F|RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.S5567F	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	6494	Ig-like 49.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GAAGTTTTTGGATGCAATCTT	0.433													22	19					0	0	1	0	0	A	179590617	G	A	179590617	3	1	81	1	0	0	0	0	1	0	0	0	16797	1174	41	2	84269	2	TTN	2	179590617	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2342	179590617	63608756	2377	5993											
TTN	7273	broad.mit.edu	37	2	179592328	179592328	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179592328C>T	ENST00000589042.1	-	68	20201	c.19977G>A	c.(19975-19977)acG>acA	p.T6659T	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Silent_p.T6342T|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Silent_p.T5415T	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	6342	Ig-like 48.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAAGCAACATCGTAGTACAAG	0.398													76	109					0	0	1	0	0	T	179592328	C	T	179592328	2	4	81	1	0	0	0	0	0	0	0	1	16797	871	31	1		1	TTN	2	179592328	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1711	179592328	63607045	2378	5994											
TTN	7273	broad.mit.edu	37	2	179603981	179603981	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179603981G>A	ENST00000589042.1	-	48	14203	c.13979C>T	c.(13978-13980)aCg>aTg	p.T4660M	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.T4489M|TTN_ENST00000591111.1_Missense_Mutation_p.T4343M|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.T4422M|TTN_ENST00000460472.2_Missense_Mutation_p.T4297M|TTN_ENST00000342992.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	4343							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GATGACTAGCGTATATGTATT	0.383													9	21					0	0	1	0	0	A	179603981	G	A	179603981	3	1	81	1	0	0	0	0	1	0	0	0	16797	1145	40	1	90810	1	TTN	2	179603981	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	11653	179603981	63595392	2379	5995											
TTN	7273	broad.mit.edu	37	2	179605020	179605020	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179605020C>T	ENST00000589042.1	-	48	13164	c.12940G>A	c.(12940-12942)Gca>Aca	p.A4314T	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.A4143T|TTN_ENST00000591111.1_Missense_Mutation_p.A3997T|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.A4076T|TTN_ENST00000460472.2_Missense_Mutation_p.A3951T|TTN_ENST00000342992.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	3997	Ig-like 23.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCTTGCCCTGCATTTTCCAGT	0.433													44	46					0	0	1	0	0	T	179605020	C	T	179605020	3	4	81	1	0	0	0	0	1	0	0	0	16797	710	25	2	91849	2	TTN	2	179605020	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1039	179605020	63594353	2380	5996											
TTN	7273	broad.mit.edu	37	2	179606116	179606116	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179606116G>T	ENST00000589042.1	-	48	12068	c.11844C>A	c.(11842-11844)cgC>cgA	p.R3948R	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Silent_p.R3777R|TTN_ENST00000591111.1_Silent_p.R3631R|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000359218.5_Silent_p.R3710R|TTN_ENST00000460472.2_Silent_p.R3585R|TTN_ENST00000342992.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	3631							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTTGAGCACAGCGAATTGGTT	0.478													17	158					4.7546e-09	5.70666e-09	1	1	0	T	179606116	G	T	179606116	2	4	81	1	0	0	0	0	0	0	0	1	16797	958	34	4		4	TTN	2	179606116	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1096	179606116	63593257	2381	5997											
TTN	7273	broad.mit.edu	37	2	179606396	179606396	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179606396A>C	ENST00000589042.1	-	48	11788	c.11564T>G	c.(11563-11565)tTt>tGt	p.F3855C	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.F3684C|TTN_ENST00000591111.1_Missense_Mutation_p.F3538C|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.F3617C|TTN_ENST00000460472.2_Missense_Mutation_p.F3492C|TTN_ENST00000342992.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	3538							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CACTCCATTAAAGAACCACTG	0.413													34	58					0	0	1	0	0	C	179606396	A	C	179606396	3	2	81	1	0	0	0	0	1	0	0	0	16797	14	1	5	93225	5	TTN	2	179606396	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	280	179606396	63592977	2382	5998											
TTN	7273	broad.mit.edu	37	2	179610944	179610944	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179610944A>C	ENST00000360870.5	-	46	16405	c.16183T>G	c.(16183-16185)Tca>Gca	p.S5395A	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000589042.1_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Intron	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	8903	Ig-like 34.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACAGCATCTGAATTTTCTGGA	0.333													4	61					0	0	1	0	0	C	179610944	A	C	179610944	3	2	81	1	0	0	0	0	1	0	0	0	16797	246	9	5	94114	5	TTN	2	179610944	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	4548	179610944	63588429	2383	5999											
TTN	7273	broad.mit.edu	37	2	179614545	179614545	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179614545T>C	ENST00000360870.5	-	46	12804	c.12582A>G	c.(12580-12582)caA>caG	p.Q4194Q	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000589042.1_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Intron	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	3538							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGACTCCATTTTGAAACCATG	0.373													5	70					0	0	1	0	0	C	179614545	T	C	179614545	2	2	81	1	0	0	0	0	0	0	0	1	16797	1838	64	3		3	TTN	2	179614545	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	3601	179614545	63584828	2384	6000											
TTN	7273	broad.mit.edu	37	2	179616403	179616403	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179616403G>T	ENST00000360870.5	-	46	10946	c.10724C>A	c.(10723-10725)tCt>tAt	p.S3575Y	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000589042.1_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Intron	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	3570	Ig-like 21.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATAACTTCCAGAATCTCTGTC	0.403													14	126					1.49906e-05	1.6816e-05	1	1	0	T	179616403	G	T	179616403	3	4	81	1	0	0	0	0	1	0	0	0	16797	942	33	4	99573	4	TTN	2	179616403	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1858	179616403	63582970	2385	6001											
TTN	7273	broad.mit.edu	37	2	179621439	179621439	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179621439C>A	ENST00000589042.1	-	46	10988	c.10764G>T	c.(10762-10764)aaG>aaT	p.K3588N	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000360870.5_Intron|TTN_ENST00000342175.6_Missense_Mutation_p.K3417N|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	3274							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGCTCTCCTCCTTTGTGAAAG	0.408													9	48					0.00448238	0.00470627	1	1	0	A	179621439	C	A	179621439	3	1	81	1	0	0	0	0	1	0	0	0	16797	680	24	4	100492	4	TTN	2	179621439	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	5036	179621439	63577934	2386	6002											
TTN	7273	broad.mit.edu	37	2	179639038	179639038	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179639038C>T	ENST00000589042.1	-	30	7177	c.6953G>A	c.(6952-6954)cGt>cAt	p.R2318H	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000360870.5_Missense_Mutation_p.R2318H|TTN_ENST00000342175.6_Missense_Mutation_p.R2272H|TTN_ENST00000591111.1_Missense_Mutation_p.R2318H|TTN_ENST00000359218.5_Missense_Mutation_p.R2272H|TTN_ENST00000460472.2_Missense_Mutation_p.R2272H|TTN_ENST00000342992.6_Missense_Mutation_p.R2318H|TTN-AS1_ENST00000610005.1_RNA|TTN-AS1_ENST00000584485.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	2033	Ig-like 12.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTGACGTCCACGACGAGATGT	0.403													12	103					0	0	1	0	0	T	179639038	C	T	179639038	3	4	81	1	0	0	0	0	1	0	0	0	16797	536	19	1	104367	1	TTN	2	179639038	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	17599	179639038	63560335	2387	6003											
TTN	7273	broad.mit.edu	37	2	179640431	179640431	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179640431C>T	ENST00000589042.1	-	28	6384	c.6160G>A	c.(6160-6162)Gcc>Acc	p.A2054T	TTN_ENST00000360870.5_Missense_Mutation_p.A2054T|TTN_ENST00000342175.6_Missense_Mutation_p.A2008T|TTN_ENST00000591111.1_Missense_Mutation_p.A2054T|TTN_ENST00000359218.5_Missense_Mutation_p.A2008T|TTN_ENST00000460472.2_Missense_Mutation_p.A2008T|TTN_ENST00000342992.6_Missense_Mutation_p.A2054T	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	1823							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCTTCTTCGGCAAGAGCTTTC	0.413													60	90					0	0	1	0	0	T	179640431	C	T	179640431	3	4	81	1	0	0	0	0	1	0	0	0	16797	710	25	2	105168	2	TTN	2	179640431	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1393	179640431	63558942	2388	6004											
TTN	7273	broad.mit.edu	37	2	179640599	179640599	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179640599G>A	ENST00000589042.1	-	28	6216	c.5992C>T	c.(5992-5994)Cgc>Tgc	p.R1998C	TTN_ENST00000360870.5_Missense_Mutation_p.R1998C|TTN_ENST00000342175.6_Missense_Mutation_p.R1952C|TTN_ENST00000591111.1_Missense_Mutation_p.R1998C|TTN_ENST00000359218.5_Missense_Mutation_p.R1952C|TTN_ENST00000460472.2_Missense_Mutation_p.R1952C|TTN_ENST00000342992.6_Missense_Mutation_p.R1998C	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	1748			R -> H.				ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AATTTACTGCGCAGCTCTTCC	0.453													56	107					0	0	1	0	0	A	179640599	G	A	179640599	3	1	81	1	0	0	0	0	1	0	0	0	16797	1087	38	1	105336	1	TTN	2	179640599	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	168	179640599	63558774	2389	6005											
TTN	7273	broad.mit.edu	37	2	179650454	179650454	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179650454C>A	ENST00000589042.1	-	15	2610	c.2386G>T	c.(2386-2388)Gat>Tat	p.D796Y	TTN_ENST00000360870.5_Missense_Mutation_p.D796Y|TTN_ENST00000342175.6_Missense_Mutation_p.D750Y|TTN_ENST00000591111.1_Missense_Mutation_p.D796Y|TTN_ENST00000359218.5_Missense_Mutation_p.D750Y|TTN_ENST00000460472.2_Missense_Mutation_p.D750Y|TTN_ENST00000342992.6_Missense_Mutation_p.D796Y	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	796							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.D750N(3)|p.D796N(2)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTTGTTAGATCTGTAGTTTTC	0.418													7	63					0.00307968	0.00324365	1	1	0	A	179650454	C	A	179650454	3	1	81	1	0	0	0	0	1	0	0	0	16797	913	32	4	108994	4	TTN	2	179650454	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	9855	179650454	63548919	2390	6006											
TTN	7273	broad.mit.edu	37	2	179658255	179658255	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179658255G>A	ENST00000589042.1	-	9	1636	c.1412C>T	c.(1411-1413)gCg>gTg	p.A471V	TTN_ENST00000360870.5_Missense_Mutation_p.A471V|TTN_ENST00000342175.6_Missense_Mutation_p.A471V|TTN_ENST00000591111.1_Missense_Mutation_p.A471V|TTN_ENST00000359218.5_Missense_Mutation_p.A471V|TTN_ENST00000460472.2_Missense_Mutation_p.A471V|TTN_ENST00000342992.6_Missense_Mutation_p.A471V	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	471							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGTCTTCTCCGCTTCCTTTCT	0.393													20	64					0	0	1	0	0	A	179658255	G	A	179658255	3	1	81	1	0	0	0	0	1	0	0	0	16797	1087	38	1	109992	1	TTN	2	179658255	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	7801	179658255	63541118	2391	6007											
CCDC141	285025	broad.mit.edu	37	2	179720988	179720989	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179720988_179720989insT	ENST00000420890.2	-	18	2977_2978	c.2860_2861insA	c.(2860-2862)atgfs	p.M954fs	CCDC141_ENST00000295723.5_Frame_Shift_Ins_p.M379fs	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	379							protein binding	p.M379fs*4(1)		NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			TGTTACCTGCATTTTTTCAGCA	0.297													24	73	---	---	---	---						T	179720989	-	T	179720988	7	5	81	1	0	1	1	0	0	0	0	0	2793	217	8	0	1515	0	CCDC141	2	179720988	Frame_Shift_Ins	INS	-	TCGA-DU-6392-01A-11D-1705-08	62733	179720988	63478385	2392	6008											
SESTD1	91404	broad.mit.edu	37	2	179982307	179982307	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179982307C>A	ENST00000428443.3	-	14	1792	c.1476G>T	c.(1474-1476)aaG>aaT	p.K492N		NM_178123.4	NP_835224.3	Q86VW0	SESD1_HUMAN	SEC14 and spectrin domains 1	492					regulation of calcium ion transport via voltage-gated calcium channel activity		phosphatidic acid binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding|protein binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(3)	30			OV - Ovarian serous cystadenocarcinoma(117;0.0344)|Epithelial(96;0.0531)|all cancers(119;0.147)			TCTGAAGCATCTTTAACCTTC	0.343													41	72					1.86633e-21	2.44455e-21	1	1	0	A	179982307	C	A	179982307	3	1	81	1	0	0	0	0	1	0	0	0	14181	912	32	4	634	4	SESTD1	2	179982307	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	261319	179982307	63217066	2393	6009											
SESTD1	91404	broad.mit.edu	37	2	180008500	180008500	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:180008500C>T	ENST00000428443.3	-	9	984	c.668G>A	c.(667-669)cGt>cAt	p.R223H		NM_178123.4	NP_835224.3	Q86VW0	SESD1_HUMAN	SEC14 and spectrin domains 1	223					regulation of calcium ion transport via voltage-gated calcium channel activity		phosphatidic acid binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding|protein binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(3)	30			OV - Ovarian serous cystadenocarcinoma(117;0.0344)|Epithelial(96;0.0531)|all cancers(119;0.147)			ATTAAATCGACGCTGCTGTAA	0.378													28	53					0	0	1	0	0	T	180008500	C	T	180008500	3	4	81	1	0	0	0	0	1	0	0	0	14181	536	19	1	1462	1	SESTD1	2	180008500	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	26193	180008500	63190873	2394	6010											
ZNF385B	151126	broad.mit.edu	37	2	180383346	180383346	+	Missense_Mutation	SNP	G	G	A	rs139953454		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:180383346G>A	ENST00000410066.1	-	5	1019	c.416C>T	c.(415-417)gCg>gTg	p.A139V	ZNF385B_ENST00000409343.1_Missense_Mutation_p.A63V|ZNF385B_ENST00000409692.1_Missense_Mutation_p.A37V|ZNF385B_ENST00000466398.1_5'UTR|ZNF385B_ENST00000336917.5_Missense_Mutation_p.A37V	NM_152520.4	NP_689733.3	Q569K4	Z385B_HUMAN	zinc finger protein 385B	139						nucleus	nucleic acid binding|zinc ion binding			breast(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	26			Epithelial(96;0.174)|OV - Ovarian serous cystadenocarcinoma(117;0.201)			GTTAATAACCGCTTTTTGCAC	0.343													51	61					0	0	1	0	0	A	180383346	G	A	180383346	3	1	81	1	0	0	0	0	1	0	0	0	17934	1087	38	1	1023	1	ZNF385B	2	180383346	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	374846	180383346	62816027	2395	6011											
CWC22	57703	broad.mit.edu	37	2	180851516	180851516	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:180851516G>A	ENST00000410053.3	-	4	411	c.112C>T	c.(112-114)Cga>Tga	p.R38*	CWC22_ENST00000295749.6_Nonsense_Mutation_p.R38*	NM_020943.2	NP_065994.1	Q9HCG8	CWC22_HUMAN	CWC22 spliceosome-associated protein homolog (S. cerevisiae)	38	Arg-rich.					catalytic step 2 spliceosome	protein binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(8)|stomach(1)	30						CGGGGGGATCGTTCTTGTTCT	0.338													5	16					0	0	1	0	0	A	180851516	G	A	180851516	4	1	81	1	0	0	0	0	0	1	0	0	4091	1153	40	1	2682	1	CWC22	2	180851516	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	468170	180851516	62347857	2396	6012											
ITGA4	3676	broad.mit.edu	37	2	182376437	182376437	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:182376437A>G	ENST00000397033.2	+	17	2287	c.1857A>G	c.(1855-1857)gcA>gcG	p.A619A		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	619					blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	TAAACTTTGCAAGGTTTTGTG	0.299													6	118					0	0	1	0	0	G	182376437	A	G	182376437	2	3	81	1	0	0	0	0	0	0	0	1	7922	117	5	3		3	ITGA4	2	182376437	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	1524921	182376437	60822936	2397	6013											
CERKL	375298	broad.mit.edu	37	2	182412565	182412565	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:182412565C>T	ENST00000410087.3	-	9	1243	c.1143G>A	c.(1141-1143)caG>caA	p.Q381Q	CERKL_ENST00000339098.5_Silent_p.Q407Q|CERKL_ENST00000374969.2_Silent_p.Q268Q|CERKL_ENST00000409440.3_Silent_p.Q363Q|CERKL_ENST00000374970.2_Silent_p.Q312Q|CERKL_ENST00000479558.1_5'UTR	NM_001030311.2|NM_201548.4	NP_001025482.1|NP_963842.1	Q49MI3	CERKL_HUMAN	ceramide kinase-like	407					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis	endoplasmic reticulum|Golgi apparatus|nucleolus	diacylglycerol kinase activity			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(13)|ovary(3)|skin(3)	32			OV - Ovarian serous cystadenocarcinoma(117;0.088)			TGGGAGATCCCTGTGCCCTCC	0.393													75	121					0	0	1	0	0	T	182412565	C	T	182412565	2	4	81	1	0	0	0	0	0	0	0	1	3290	680	24	2		2	CERKL	2	182412565	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	36128	182412565	60786808	2398	6014											
SSFA2	6744	broad.mit.edu	37	2	182780677	182780677	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:182780677C>A	ENST00000431877.2	+	11	2489	c.2310C>A	c.(2308-2310)tcC>tcA	p.S770S	SSFA2_ENST00000320370.7_Silent_p.S770S|SSFA2_ENST00000409001.1_Silent_p.S770S|SSFA2_ENST00000409136.1_Silent_p.S279S|SSFA2_ENST00000428267.2_Silent_p.S617S	NM_001130445.1	NP_001123917.1	P28290	SSFA2_HUMAN	sperm specific antigen 2	770						cytoplasm|plasma membrane	actin binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(18)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	38			OV - Ovarian serous cystadenocarcinoma(117;0.0856)			GCCCACCTTCCTTCACCTATA	0.453													8	71					3.09899e-07	3.60815e-07	1	1	0	A	182780677	C	A	182780677	2	1	81	1	0	0	0	0	0	0	0	1	15239	668	24	4		4	SSFA2	2	182780677	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	368112	182780677	60418696	2399	6015											
FRZB	2487	broad.mit.edu	37	2	183699582	183699582	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:183699582G>A	ENST00000295113.4	-	6	1581	c.972C>T	c.(970-972)cgC>cgT	p.R324R		NM_001463.3	NP_001454.2	Q92765	SFRP3_HUMAN	frizzled-related protein	324			R -> G (in hip OA susceptibility; has diminished ability to antagonize Wnt signaling, in vitro; dbSNP:rs7775).		brain development|cochlea morphogenesis|gonad development|mammary gland involution|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cartilage development|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of hepatocyte differentiation|positive regulation of apoptosis|positive regulation of fat cell differentiation|skeletal system development|vasculature development|Wnt receptor signaling pathway	cytoplasm|extracellular space|membrane	PDZ domain binding|Wnt receptor activity|Wnt-protein binding	p.R324R(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(117;0.109)|Epithelial(96;0.231)			GGATTTAGTTGCGTGCTTGCC	0.428													18	37					0	0	1	0	0	A	183699582	G	A	183699582	2	1	81	1	0	0	0	0	0	0	0	1	6100	1306	46	2		2	FRZB	2	183699582	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	918905	183699582	59499791	2400	6016											
FRZB	2487	broad.mit.edu	37	2	183702695	183702695	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:183702695C>T	ENST00000295113.4	-	5	1451	c.842G>A	c.(841-843)cGa>cAa	p.R281Q		NM_001463.3	NP_001454.2	Q92765	SFRP3_HUMAN	frizzled-related protein	281	NTR.				brain development|cochlea morphogenesis|gonad development|mammary gland involution|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cartilage development|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of hepatocyte differentiation|positive regulation of apoptosis|positive regulation of fat cell differentiation|skeletal system development|vasculature development|Wnt receptor signaling pathway	cytoplasm|extracellular space|membrane	PDZ domain binding|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(117;0.109)|Epithelial(96;0.231)			TTTACCGAGTCGATCCTTCCA	0.328													18	38					0	0	1	0	0	T	183702695	C	T	183702695	3	4	81	1	0	0	0	0	1	0	0	0	6100	884	31	1	143	1	FRZB	2	183702695	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3113	183702695	59496678	2401	6017											
NCKAP1	10787	broad.mit.edu	37	2	183792952	183792952	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:183792952G>A	ENST00000361354.4	-	29	3445	c.3073C>T	c.(3073-3075)Cat>Tat	p.H1025Y	NCKAP1_ENST00000360982.2_Missense_Mutation_p.H1031Y|NCKAP1_ENST00000478449.1_5'UTR	NM_013436.3	NP_038464.1	Q9Y2A7	NCKP1_HUMAN	NCK-associated protein 1						apoptosis|central nervous system development	integral to membrane|lamellipodium membrane	protein binding			breast(3)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(11)|lung(16)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			TTGTTGCAATGCCCTGAGAAA	0.383													23	45					0	0	1	0	0	A	183792952	G	A	183792952	3	1	81	1	0	0	0	0	1	0	0	0	10268	1319	46	2	325	2	NCKAP1	2	183792952	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	90257	183792952	59406421	2402	6018											
NCKAP1	10787	broad.mit.edu	37	2	183853816	183853816	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:183853816G>A	ENST00000361354.4	-	9	1261	c.889C>T	c.(889-891)Cgg>Tgg	p.R297W	NCKAP1_ENST00000360982.2_Missense_Mutation_p.R303W	NM_013436.3	NP_038464.1	Q9Y2A7	NCKP1_HUMAN	NCK-associated protein 1						apoptosis|central nervous system development	integral to membrane|lamellipodium membrane	protein binding			breast(3)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(11)|lung(16)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			ACTTCATCCCGAAAGAGAGAG	0.403													25	44					0	0	1	0	0	A	183853816	G	A	183853816	3	1	81	1	0	0	0	0	1	0	0	0	10268	1057	37	1	2589	1	NCKAP1	2	183853816	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	60864	183853816	59345557	2403	6019											
NUP35	129401	broad.mit.edu	37	2	183995273	183995273	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:183995273G>A	ENST00000295119.4	+	3	442	c.339G>A	c.(337-339)caG>caA	p.Q113Q	NUP35_ENST00000409798.1_Splice_Site_p.Q96Q|NUP35_ENST00000541912.1_5'UTR|NUP35_ENST00000497330.1_3'UTR	NM_138285.3	NP_612142.2	Q8NFH5	NUP53_HUMAN	nucleoporin 35kDa	113					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	intermediate filament cytoskeleton|nuclear membrane|nuclear pore|plasma membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)	8						CAAGAAGACAGGTAATATAAA	0.378													57	98					0	0	1	0	0	A	183995273	G	A	183995273	5	1	81	1	0	0	0	0	0	0	1	0	10811	1014	35	2	349	2	NUP35	2	183995273	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	141457	183995273	59204100	2404	6020											
ZNF804A	91752	broad.mit.edu	37	2	185802362	185802362	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:185802362C>T	ENST00000302277.6	+	4	2833	c.2239C>T	c.(2239-2241)Cac>Tac	p.H747Y		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	747			H -> R (in dbSNP:rs12477430).			intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						TGATATGAAACACATGAGTCA	0.328													19	40					0	0	1	0	0	T	185802362	C	T	185802362	3	4	81	1	0	0	0	0	1	0	0	0	18219	478	17	2	2253	2	ZNF804A	2	185802362	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1807089	185802362	57397011	2405	6021											
FSIP2	401024	broad.mit.edu	37	2	186673090	186673090	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:186673090G>A	ENST00000343098.5	+	17	19324	c.19324G>A	c.(19324-19326)Gcc>Acc	p.A6442T	FSIP2_ENST00000424728.1_Missense_Mutation_p.A6353T	NM_173651.2	NP_775922.2			fibrous sheath interacting protein 2											NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						AGAGGTGTTGGCCTTGTTCTT	0.338													9	28					0	0	1	0	0	A	186673090	G	A	186673090	3	1	81	1	0	0	0	0	1	0	0	0	6110	1203	42	2	19390	2	FSIP2	2	186673090	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	870728	186673090	56526283	2406	6022											
ITGAV	3685	broad.mit.edu	37	2	187466773	187466773	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:187466773C>T	ENST00000261023.3	+	2	485	c.211C>T	c.(211-213)Ccc>Tcc	p.P71S	ITGAV_ENST00000433736.2_Missense_Mutation_p.P25S|ITGAV_ENST00000374907.3_Missense_Mutation_p.P71S	NM_002210.3	NP_002201	P06756	ITAV_HUMAN	integrin, alpha V	71					angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|ERK1 and ERK2 cascade|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance	integrin complex	receptor activity|transforming growth factor beta binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47			OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)		CGTGGGAGCTCCCAAAGCAAA	0.473													23	31					0	0	1	0	0	T	187466773	C	T	187466773	3	4	81	1	0	0	0	0	1	0	0	0	7932	855	30	2	268	2	ITGAV	2	187466773	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	793683	187466773	55732600	2407	6023											
ITGAV	3685	broad.mit.edu	37	2	187495528	187495528	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:187495528T>A	ENST00000261023.3	+	5	802	c.528T>A	c.(526-528)gaT>gaA	p.D176E	ITGAV_ENST00000433736.2_Missense_Mutation_p.D130E|ITGAV_ENST00000374907.3_Intron	NM_002210.3	NP_002201	P06756	ITAV_HUMAN	integrin, alpha V	176					angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|ERK1 and ERK2 cascade|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance	integrin complex	receptor activity|transforming growth factor beta binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47			OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)		TTTTAGAAGATATTGATGCTG	0.294													18	185					0	0	1	0	0	A	187495528	T	A	187495528	3	1	81	1	0	0	0	0	1	0	0	0	7932	1403	49	4	597	4	ITGAV	2	187495528	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	28755	187495528	55703845	2408	6024											
FAM171B	165215	broad.mit.edu	37	2	187626631	187626631	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:187626631C>T	ENST00000304698.5	+	8	1765	c.1562C>T	c.(1561-1563)gCg>gTg	p.A521V		NM_177454.3	NP_803237.3	Q6P995	F171B_HUMAN	family with sequence similarity 171, member B	521						integral to membrane	DNA binding			NS(1)|breast(6)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(22)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						AATGAGGAGGCGTATGGGCGT	0.413													7	19					0	0	1	0	0	T	187626631	C	T	187626631	3	4	81	1	0	0	0	0	1	0	0	0	5521	768	27	1	1592	1	FAM171B	2	187626631	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	131103	187626631	55572742	2409	6025											
FAM171B	165215	broad.mit.edu	37	2	187627518	187627518	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:187627518C>T	ENST00000304698.5	+	8	2652	c.2449C>T	c.(2449-2451)Cga>Tga	p.R817*		NM_177454.3	NP_803237.3	Q6P995	F171B_HUMAN	family with sequence similarity 171, member B	817						integral to membrane	DNA binding			NS(1)|breast(6)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(22)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						CTGGAAGAAGCGAGAGGAACG	0.433													16	26					0	0	1	0	0	T	187627518	C	T	187627518	4	4	81	1	0	0	0	0	0	1	0	0	5521	760	27	1	2479	1	FAM171B	2	187627518	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	887	187627518	55571855	2410	6026											
ZSWIM2	151112	broad.mit.edu	37	2	187693297	187693297	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:187693297C>T	ENST00000295131.2	-	9	1355	c.1316G>A	c.(1315-1317)gGa>gAa	p.G439E		NM_182521.2	NP_872327.2	Q8NEG5	ZSWM2_HUMAN	zinc finger, SWIM-type containing 2	439					apoptosis		zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			AGGTAAAATTCCAAGTCTATT	0.333													28	44					0	0	1	0	0	T	187693297	C	T	187693297	3	4	81	1	0	0	0	0	1	0	0	0	18281	855	30	2	589	2	ZSWIM2	2	187693297	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	65779	187693297	55506076	2411	6027											
ZSWIM2	151112	broad.mit.edu	37	2	187693346	187693346	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:187693346C>A	ENST00000295131.2	-	9	1306	c.1267G>T	c.(1267-1269)Gat>Tat	p.D423Y		NM_182521.2	NP_872327.2	Q8NEG5	ZSWM2_HUMAN	zinc finger, SWIM-type containing 2	423					apoptosis		zinc ion binding	p.D423Y(1)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			ATAAAAAGATCTGGTTCTTTC	0.338													5	56					0.000602214	0.000646338	1	1	0	A	187693346	C	A	187693346	3	1	81	1	0	0	0	0	1	0	0	0	18281	913	32	4	638	4	ZSWIM2	2	187693346	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	49	187693346	55506027	2412	6028											
ZSWIM2	151112	broad.mit.edu	37	2	187698684	187698684	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:187698684T>C	ENST00000295131.2	-	6	856	c.817A>G	c.(817-819)Aca>Gca	p.T273A		NM_182521.2	NP_872327.2	Q8NEG5	ZSWM2_HUMAN	zinc finger, SWIM-type containing 2	273					apoptosis		zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			TCACGAAATGTAAACGTGTGG	0.363													22	34					0	0	1	0	0	C	187698684	T	C	187698684	3	2	81	1	0	0	0	0	1	0	0	0	18281	1638	57	3	1100	3	ZSWIM2	2	187698684	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	5338	187698684	55500689	2413	6029											
ZSWIM2	151112	broad.mit.edu	37	2	187702251	187702251	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:187702251delT	ENST00000295131.2	-	5	564	c.525delA	c.(523-525)aaafs	p.K175fs		NM_182521.2	NP_872327.2	Q8NEG5	ZSWM2_HUMAN	zinc finger, SWIM-type containing 2	175					apoptosis		zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			TCTTCATGCATTTTATATGAA	0.318													31	49	---	---	---	---						-	187702251	T	-	187702251	7	5	81	1	0	1	0	1	0	0	0	0	18281	1490	52	0	1396	0	ZSWIM2	2	187702251	Frame_Shift_Del	DEL	T	TCGA-DU-6392-01A-11D-1705-08	3567	187702251	55497122	2414	6030											
COL3A1	1281	broad.mit.edu	37	2	189868847	189868847	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:189868847C>T	ENST00000304636.3	+	39	2971	c.2801C>T	c.(2800-2802)tCg>tTg	p.S934L	COL3A1_ENST00000317840.5_Intron	NM_000090.3	NP_000081	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	934	Triple-helical region.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	GAGAAGGGATCGCCTGGTGCC	0.488													13	26					0	0	1	0	0	T	189868847	C	T	189868847	3	4	81	1	0	0	0	0	1	0	0	0	3711	893	31	1	2955	1	COL3A1	2	189868847	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2166596	189868847	53330526	2415	6031											
COL5A2	1290	broad.mit.edu	37	2	189899862	189899862	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:189899862T>C	ENST00000374866.3	-	53	4407	c.4133A>G	c.(4132-4134)cAa>cGa	p.Q1378R		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	1378	Fibrillar collagen NC1.				axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			ATTAGGTGATTGGTGGTCTCC	0.358													6	58					0	0	1	0	0	C	189899862	T	C	189899862	3	2	81	1	0	0	0	0	1	0	0	0	3720	1812	63	3	374	3	COL5A2	2	189899862	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	31015	189899862	53299511	2416	6032											
COL5A2	1290	broad.mit.edu	37	2	189918930	189918930	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:189918930T>C	ENST00000374866.3	-	36	2674	c.2400A>G	c.(2398-2400)ccA>ccG	p.P800P		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	800					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			CCAAAGGACCTGGAAGACCCT	0.403													3	49					0	0	1	0	0	C	189918930	T	C	189918930	2	2	81	1	0	0	0	0	0	0	0	1	3720	1567	55	3		3	COL5A2	2	189918930	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	19068	189918930	53280443	2417	6033											
WDR75	84128	broad.mit.edu	37	2	190327287	190327287	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:190327287C>A	ENST00000314761.4	+	9	916	c.856C>A	c.(856-858)Ctc>Atc	p.L286I		NM_032168.1	NP_115544.1	Q8IWA0	WDR75_HUMAN	WD repeat domain 75	286						nucleolus				breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.00105)|Epithelial(96;0.0129)|all cancers(119;0.0456)			TAAGGAGTTTCTCCCGCGTTT	0.423													5	106					0.014758	0.0152304	1	1	0	A	190327287	C	A	190327287	3	1	81	1	0	0	0	0	1	0	0	0	17385	913	32	4	890	4	WDR75	2	190327287	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	408357	190327287	52872086	2418	6034											
WDR75	84128	broad.mit.edu	37	2	190331306	190331306	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:190331306A>G	ENST00000314761.4	+	13	1505	c.1445A>G	c.(1444-1446)tAc>tGc	p.Y482C		NM_032168.1	NP_115544.1	Q8IWA0	WDR75_HUMAN	WD repeat domain 75	482						nucleolus				breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.00105)|Epithelial(96;0.0129)|all cancers(119;0.0456)			TCTGACATATACAGTAAGTTA	0.333													25	36					0	0	1	0	0	G	190331306	A	G	190331306	3	3	81	1	0	0	0	0	1	0	0	0	17385	391	14	3	1495	3	WDR75	2	190331306	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	4019	190331306	52868067	2419	6035											
WDR75	84128	broad.mit.edu	37	2	190338996	190338996	+	Missense_Mutation	SNP	G	G	A	rs116046757	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:190338996G>A	ENST00000314761.4	+	19	2194	c.2134G>A	c.(2134-2136)Gaa>Aaa	p.E712K		NM_032168.1	NP_115544.1	Q8IWA0	WDR75_HUMAN	WD repeat domain 75	712						nucleolus				breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.00105)|Epithelial(96;0.0129)|all cancers(119;0.0456)			AAAACTAAACGAAACTTTAGA	0.363													58	67					0	0	1	0	0	A	190338996	G	A	190338996	3	1	81	1	0	0	0	0	1	0	0	0	17385	1059	37	1	2208	1	WDR75	2	190338996	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	7690	190338996	52860377	2420	6036											
WDR75	84128	broad.mit.edu	37	2	190340124	190340124	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:190340124G>A	ENST00000314761.4	+	21	2534	c.2474G>A	c.(2473-2475)aGc>aAc	p.S825N		NM_032168.1	NP_115544.1	Q8IWA0	WDR75_HUMAN	WD repeat domain 75	825						nucleolus				breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.00105)|Epithelial(96;0.0129)|all cancers(119;0.0456)			ATAGACTACAGCTGGATAGCT	0.348													6	17					0	0	1	0	0	A	190340124	G	A	190340124	3	1	81	1	0	0	0	0	1	0	0	0	17385	971	34	2	2556	2	WDR75	2	190340124	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1128	190340124	52859249	2421	6037											
SLC40A1	30061	broad.mit.edu	37	2	190428487	190428487	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:190428487G>A	ENST00000261024.2	-	7	1651	c.1225C>T	c.(1225-1227)Cga>Tga	p.R409*		NM_014585.5	NP_055400.1	Q9NP59	S40A1_HUMAN	solute carrier family 40 (iron-regulated transporter), member 1	409					anatomical structure morphogenesis|cellular iron ion homeostasis	cytoplasm|integral to plasma membrane	iron ion transmembrane transporter activity|protein binding			endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(117;0.000917)|Epithelial(96;0.014)|all cancers(119;0.0491)			AACCTTGATCGGATATCTTCA	0.408													28	38					0	0	1	0	0	A	190428487	G	A	190428487	4	1	81	1	0	0	0	0	0	1	0	0	14683	1124	39	1	498	1	SLC40A1	2	190428487	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	88363	190428487	52770886	2422	6038											
ASNSD1	54529	broad.mit.edu	37	2	190530910	190530910	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:190530910G>A	ENST00000260952.4	+	4	465	c.52G>A	c.(52-54)Gat>Aat	p.D18N	ASNSD1_ENST00000607535.1_3'UTR|ASNSD1_ENST00000607690.1_3'UTR|ASNSD1_ENST00000607829.1_3'UTR|ASNSD1_ENST00000607062.1_Intron	NM_019048.2	NP_061921	Q9NWL6	ASND1_HUMAN	asparagine synthetase domain containing 1	18	Glutamine amidotransferase type-2.				asparagine biosynthetic process|glutamine metabolic process		asparagine synthase (glutamine-hydrolyzing) activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(3)	25			OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0449)|all cancers(119;0.118)			TTTCAGTCAAGATTTAAAAGA	0.338													31	58					0	0	1	0	0	A	190530910	G	A	190530910	3	1	81	1	0	0	0	0	1	0	0	0	1048	942	33	2	54	2	ASNSD1	2	190530910	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	102423	190530910	52668463	2423	6039											
ASNSD1	54529	broad.mit.edu	37	2	190531984	190531984	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:190531984A>G	ENST00000260952.4	+	4	1539	c.1126A>G	c.(1126-1128)Aat>Gat	p.N376D	ASNSD1_ENST00000607062.1_Intron	NM_019048.2	NP_061921	Q9NWL6	ASND1_HUMAN	asparagine synthetase domain containing 1	376	Asparagine synthetase.				asparagine biosynthetic process|glutamine metabolic process		asparagine synthase (glutamine-hydrolyzing) activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(3)	25			OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0449)|all cancers(119;0.118)			TAAACAGAAAAATAAATGTGA	0.368													18	35					0	0	1	0	0	G	190531984	A	G	190531984	3	3	81	1	0	0	0	0	1	0	0	0	1048	14	1	3	1128	3	ASNSD1	2	190531984	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	1074	190531984	52667389	2424	6040											
ANKAR	150709	broad.mit.edu	37	2	190585463	190585463	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:190585463G>T	ENST00000520309.1	+	12	2673	c.2585G>T	c.(2584-2586)aGa>aTa	p.R862I	ANKAR_ENST00000431575.2_Missense_Mutation_p.R791I|ANKAR_ENST00000313581.4_Missense_Mutation_p.R862I|ANKAR_ENST00000438402.2_Missense_Mutation_p.R862I|ANKAR_ENST00000281412.6_Missense_Mutation_p.R626I	NM_144708.3	NP_653309.3	Q7Z5J8	ANKAR_HUMAN	ankyrin and armadillo repeat containing	862						integral to membrane	binding			breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)			AGAGCTGTGAGAGAACATAAA	0.313													65	133					1.4051e-37	1.88443e-37	1	1	0	T	190585463	G	T	190585463	3	4	81	1	0	0	0	0	1	0	0	0	619	942	33	4	2627	4	ANKAR	2	190585463	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	53479	190585463	52613910	2425	6041											
PMS1	5378	broad.mit.edu	37	2	190718693	190718693	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:190718693G>A	ENST00000441310.2	+	8	1084	c.851G>A	c.(850-852)tGc>tAc	p.C284Y	PMS1_ENST00000409823.3_Missense_Mutation_p.C245Y|PMS1_ENST00000421722.1_3'UTR|PMS1_ENST00000432292.3_Missense_Mutation_p.C108Y|PMS1_ENST00000418224.3_Missense_Mutation_p.C108Y|PMS1_ENST00000447232.2_Missense_Mutation_p.C284Y	NM_000534.4	NP_000525.1	P54277	PMS1_HUMAN	PMS1 postmeiotic segregation increased 1 (S. cerevisiae)	284					mismatch repair|reciprocal meiotic recombination	MutLalpha complex	ATP binding|ATPase activity|mismatched DNA binding	p.C284F(1)		breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			OV - Ovarian serous cystadenocarcinoma(117;0.0013)|Epithelial(96;0.0263)|all cancers(119;0.0751)			AATCTGAAATGCCTAAAGGAA	0.289			"Mis, N"			"colorectal, endometrial, ovarian"		Direct reversal of damage;Mismatch excision repair (MMR)					12	28					0	0	1	0	0	A	190718693	G	A	190718693	3	1	81	1	0	0	0	0	1	0	0	0	12190	1319	46	2	877	2	PMS1	2	190718693	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	133230	190718693	52480680	2426	6042											
PMS1	5378	broad.mit.edu	37	2	190719533	190719533	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:190719533T>C	ENST00000441310.2	+	9	1768	c.1535T>C	c.(1534-1536)aTt>aCt	p.I512T	PMS1_ENST00000409823.3_Missense_Mutation_p.I473T|PMS1_ENST00000421722.1_3'UTR|PMS1_ENST00000432292.3_Missense_Mutation_p.I336T|PMS1_ENST00000418224.3_Missense_Mutation_p.I336T|PMS1_ENST00000447232.2_Missense_Mutation_p.I512T	NM_000534.4	NP_000525.1	P54277	PMS1_HUMAN	PMS1 postmeiotic segregation increased 1 (S. cerevisiae)	512					mismatch repair|reciprocal meiotic recombination	MutLalpha complex	ATP binding|ATPase activity|mismatched DNA binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			OV - Ovarian serous cystadenocarcinoma(117;0.0013)|Epithelial(96;0.0263)|all cancers(119;0.0751)			GGAGAGAATATTGAACCTGTG	0.343			"Mis, N"			"colorectal, endometrial, ovarian"		Direct reversal of damage;Mismatch excision repair (MMR)					9	56					0	0	1	0	0	C	190719533	T	C	190719533	3	2	81	1	0	0	0	0	1	0	0	0	12190	1493	52	3	1565	3	PMS1	2	190719533	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	840	190719533	52479840	2427	6043											
MSTN	2660	broad.mit.edu	37	2	190924926	190924926	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:190924926C>T	ENST00000260950.4	-	2	741	c.609G>A	c.(607-609)tgG>tgA	p.W203*	C2orf88_ENST00000478197.1_Intron	NM_005259.2	NP_005250.1	O14793	GDF8_HUMAN	myostatin	203					muscle organ development|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|skin(1)	12			OV - Ovarian serous cystadenocarcinoma(117;0.000742)|Epithelial(96;0.0121)|all cancers(119;0.0395)			CAATGCTCTGCCAAATACCAG	0.408													39	92					0	0	1	0	0	T	190924926	C	T	190924926	4	4	81	1	0	0	0	0	0	1	0	0	9941	740	26	2	526	2	MSTN	2	190924926	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	205393	190924926	52274447	2428	6044											
MSTN	2660	broad.mit.edu	37	2	190926970	190926970	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:190926970A>C	ENST00000260950.4	-	1	485	c.353T>G	c.(352-354)aTc>aGc	p.I118S	C2orf88_ENST00000478197.1_Intron	NM_005259.2	NP_005250.1	O14793	GDF8_HUMAN	myostatin	118					muscle organ development|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|skin(1)	12			OV - Ovarian serous cystadenocarcinoma(117;0.000742)|Epithelial(96;0.0121)|all cancers(119;0.0395)			CATGGTAATGATTGTTTCCGT	0.428													12	77					0	0	1	0	0	C	190926970	A	C	190926970	3	2	81	1	0	0	0	0	1	0	0	0	9941	333	12	4	786	4	MSTN	2	190926970	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	2044	190926970	52272403	2429	6045											
HIBCH	26275	broad.mit.edu	37	2	191116931	191116931	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:191116931A>G	ENST00000392332.3	-	8	759	c.620T>C	c.(619-621)gTg>gCg	p.V207A	HIBCH_ENST00000359678.5_Missense_Mutation_p.V207A			Q6NVY1	HIBCH_HUMAN	3-hydroxyisobutyryl-CoA hydrolase	207					branched chain family amino acid catabolic process	mitochondrial matrix	3-hydroxyisobutyryl-CoA hydrolase activity|protein binding			NS(1)|breast(2)|endometrium(1)|large_intestine(1)|lung(5)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	13			OV - Ovarian serous cystadenocarcinoma(117;0.000586)|Epithelial(96;0.0286)|all cancers(119;0.0814)			TGCTCTGTACACATCTCTTCC	0.388													21	55					0	0	1	0	0	G	191116931	A	G	191116931	3	3	81	1	0	0	0	0	1	0	0	0	7141	159	6	3	568	3	HIBCH	2	191116931	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	189961	191116931	52082442	2430	6046											
GLS	2744	broad.mit.edu	37	2	191818290	191818290	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:191818290G>T	ENST00000320717.3	+	15	1908		c.e15-1		GLS_ENST00000409428.1_Splice_Site	NM_014905.4	NP_055720.3	O94925	GLSK_HUMAN	glutaminase						cellular amino acid biosynthetic process|glutamate secretion|glutamine catabolic process|neurotransmitter secretion	mitochondrial matrix	glutaminase activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	16			OV - Ovarian serous cystadenocarcinoma(117;0.00625)|Epithelial(96;0.0744)|all cancers(119;0.181)		L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	TTTCTTCACAGGTAAAGTCAG	0.403													11	166					1.08611e-07	1.27405e-07	1	1	0	T	191818290	G	T	191818290	5	4	81	1	0	0	0	0	0	0	1	0	6505	1014	35	4	1708	4	GLS	2	191818290	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	701359	191818290	51381083	2431	6047											
STAT1	6772	broad.mit.edu	37	2	191848459	191848459	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:191848459G>T	ENST00000361099.3	-	17	1742	c.1355C>A	c.(1354-1356)tCt>tAt	p.S452Y	STAT1_ENST00000392323.2_Missense_Mutation_p.S454Y|STAT1_ENST00000409465.1_Missense_Mutation_p.S452Y|STAT1_ENST00000540176.1_3'UTR|STAT1_ENST00000392322.3_Missense_Mutation_p.S452Y	NM_007315.3	NP_009330.1	P42224	STAT1_HUMAN	signal transducer and activator of transcription 1, 91kDa	452					activation of caspase activity|I-kappaB kinase/NF-kappaB cascade|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway|tyrosine phosphorylation of STAT protein	cytosol|nucleolus|nucleoplasm	calcium ion binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity|signal transducer activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)		Fludarabine(DB01073)	AACGGGCAGAGAGGTCGTCTA	0.493													6	62					5.9392e-07	6.87481e-07	1	1	0	T	191848459	G	T	191848459	3	4	81	1	0	0	0	0	1	0	0	0	15320	942	33	4	937	4	STAT1	2	191848459	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	30169	191848459	51350914	2432	6048											
STAT1	6772	broad.mit.edu	37	2	191862734	191862734	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:191862734C>T	ENST00000361099.3	-	9	1021		c.e9-1		STAT1_ENST00000392323.2_Splice_Site|STAT1_ENST00000409465.1_Splice_Site|STAT1_ENST00000540176.1_Splice_Site|STAT1_ENST00000392322.3_Splice_Site	NM_007315.3	NP_009330.1	P42224	STAT1_HUMAN	signal transducer and activator of transcription 1, 91kDa						activation of caspase activity|I-kappaB kinase/NF-kappaB cascade|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway|tyrosine phosphorylation of STAT protein	cytosol|nucleolus|nucleoplasm	calcium ion binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity|signal transducer activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)		Fludarabine(DB01073)	GAACTACTTCCTAAAGGCAAT	0.313													4	49					0	0	1	0	0	T	191862734	C	T	191862734	5	4	81	1	0	0	0	0	0	0	1	0	15320	695	24	2	1691	2	STAT1	2	191862734	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	14275	191862734	51336639	2433	6049											
STAT1	6772	broad.mit.edu	37	2	191874731	191874731	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:191874731C>A	ENST00000361099.3	-	3	387		c.e3-1		STAT1_ENST00000392323.2_Splice_Site|STAT1_ENST00000409465.1_Splice_Site|STAT1_ENST00000540176.1_Splice_Site|STAT1_ENST00000392322.3_Splice_Site	NM_007315.3	NP_009330.1	P42224	STAT1_HUMAN	signal transducer and activator of transcription 1, 91kDa						activation of caspase activity|I-kappaB kinase/NF-kappaB cascade|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway|tyrosine phosphorylation of STAT protein	cytosol|nucleolus|nucleoplasm	calcium ion binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity|signal transducer activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)		Fludarabine(DB01073)	CTGAGACATCCTATAGGGAAA	0.393													10	73					0.00621372	0.00649472	1	1	0	A	191874731	C	A	191874731	5	1	81	1	0	0	0	0	0	0	1	0	15320	695	24	4	2349	4	STAT1	2	191874731	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	11997	191874731	51324642	2434	6050											
STAT4	6775	broad.mit.edu	37	2	191897813	191897813	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:191897813C>T	ENST00000392320.2	-	21	2229	c.1915G>A	c.(1915-1917)Gct>Act	p.A639T	STAT4_ENST00000358470.4_Missense_Mutation_p.A639T	NM_003151.3	NP_003142.1	Q14765	STAT4_HUMAN	signal transducer and activator of transcription 4	639	SH2.				JAK-STAT cascade	cytoplasm|nucleus	calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)			AGGATGTCAGCGAATGGCAGA	0.438													34	41					0	0	1	0	0	T	191897813	C	T	191897813	3	4	81	1	0	0	0	0	1	0	0	0	15323	768	27	1	347	1	STAT4	2	191897813	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	23082	191897813	51301560	2435	6051											
STAT4	6775	broad.mit.edu	37	2	191929597	191929597	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:191929597G>A	ENST00000392320.2	-	8	1032	c.718C>T	c.(718-720)Cgg>Tgg	p.R240W	STAT4_ENST00000358470.4_Missense_Mutation_p.R240W	NM_003151.3	NP_003142.1	Q14765	STAT4_HUMAN	signal transducer and activator of transcription 4	240					JAK-STAT cascade	cytoplasm|nucleus	calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)			TGCTGCCGCCGCTTCCAGTCT	0.488													12	201					0	0	1	0	0	A	191929597	G	A	191929597	3	1	81	1	0	0	0	0	1	0	0	0	15323	1086	38	1	1596	1	STAT4	2	191929597	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	31784	191929597	51269776	2436	6052											
SDPR	8436	broad.mit.edu	37	2	192701419	192701419	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:192701419C>T	ENST00000304141.4	-	2	837	c.508G>A	c.(508-510)Gtg>Atg	p.V170M		NM_004657.5	NP_004648.1	O95810	SDPR_HUMAN	serum deprivation response	170						caveola|cytosol	phosphatidylserine binding|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3)	23			OV - Ovarian serous cystadenocarcinoma(117;0.0647)		Phosphatidylserine(DB00144)	TTCACAAACACGCTGGCAGGG	0.488													14	15					0	0	1	0	0	T	192701419	C	T	192701419	3	4	81	1	0	0	0	0	1	0	0	0	14024	536	19	1	773	1	SDPR	2	192701419	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	771822	192701419	50497954	2437	6053											
TMEFF2	23671	broad.mit.edu	37	2	192863836	192863836	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:192863836G>A	ENST00000392314.1	-	6	1026	c.635C>T	c.(634-636)tCg>tTg	p.S212L	TMEFF2_ENST00000272771.5_Missense_Mutation_p.S212L|AC098617.1_ENST00000428980.2_RNA|TMEFF2_ENST00000487771.1_5'UTR|AC098617.1_ENST00000424116.2_RNA			Q9UIK5	TEFF2_HUMAN	transmembrane protein with EGF-like and two follistatin-like domains 2	212	Kazal-like 2.					extracellular region|integral to membrane				breast(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(12)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(117;0.0835)			TTTCTGACACGATGCTTCTTT	0.378													55	75					0	0	1	0	0	A	192863836	G	A	192863836	3	1	81	1	0	0	0	0	1	0	0	0	16074	1059	37	1	509	1	TMEFF2	2	192863836	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	162417	192863836	50335537	2438	6054											
SLC39A10	57181	broad.mit.edu	37	2	196544795	196544795	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:196544795G>A	ENST00000409086.3	+	2	304	c.29G>A	c.(28-30)tGc>tAc	p.C10Y	SLC39A10_ENST00000359634.5_Missense_Mutation_p.C10Y|SLC39A10_ENST00000541054.1_Intron	NM_001127257.1	NP_001120729.1	Q9ULF5	S39AA_HUMAN	solute carrier family 39 (zinc transporter), member 10	10					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(16)|pancreas(1)|prostate(1)|skin(2)	34			OV - Ovarian serous cystadenocarcinoma(117;0.221)			ACAAAATTTTGCCTCATTTGT	0.368													4	53					0	0	1	0	0	A	196544795	G	A	196544795	3	1	81	1	0	0	0	0	1	0	0	0	14668	1319	46	2	31	2	SLC39A10	2	196544795	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	3680959	196544795	46654578	2439	6055											
DNAH7	56171	broad.mit.edu	37	2	196642621	196642621	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:196642621C>T	ENST00000312428.6	-	59	11067	c.10967G>A	c.(10966-10968)cGc>cAc	p.R3656H	DNAH7_ENST00000409063.1_Missense_Mutation_p.R139H	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3656					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TAGAATGCTGCGCAGCGTGCG	0.468													21	44					0	0	1	0	0	T	196642621	C	T	196642621	3	4	81	1	0	0	0	0	1	0	0	0	4633	768	27	1	1135	1	DNAH7	2	196642621	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	97826	196642621	46556752	2440	6056											
DNAH7	56171	broad.mit.edu	37	2	196651789	196651789	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:196651789T>G	ENST00000312428.6	-	58	10923	c.10823A>C	c.(10822-10824)gAg>gCg	p.E3608A	DNAH7_ENST00000409063.1_Missense_Mutation_p.E91A	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3608	AAA 6 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						CAGATCTGTCTCATTGAACTC	0.403													46	68					0	0	1	0	0	G	196651789	T	G	196651789	3	3	81	1	0	0	0	0	1	0	0	0	4633	1551	54	5	1283	5	DNAH7	2	196651789	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	9168	196651789	46547584	2441	6057											
DNAH7	56171	broad.mit.edu	37	2	196674469	196674469	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:196674469C>T	ENST00000312428.6	-	52	9988	c.9888G>A	c.(9886-9888)gcG>gcA	p.A3296A		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3296					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						CAGTACTGACCGCCCGCTCAT	0.328													24	36					0	0	1	0	0	T	196674469	C	T	196674469	5	4	81	1	0	0	0	0	0	0	1	0	4633	666	23	1	2242	1	DNAH7	2	196674469	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	22680	196674469	46524904	2442	6058											
DNAH7	56171	broad.mit.edu	37	2	196681514	196681514	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:196681514C>T	ENST00000312428.6	-	51	9699	c.9599G>A	c.(9598-9600)cGc>cAc	p.R3200H		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3200					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	p.R3200L(1)		NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						ATAGCCCATGCGGGTGGTGTC	0.438													5	72					0	0	1	0	0	T	196681514	C	T	196681514	3	4	81	1	0	0	0	0	1	0	0	0	4633	768	27	1	2535	1	DNAH7	2	196681514	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	7045	196681514	46517859	2443	6059											
DNAH7	56171	broad.mit.edu	37	2	196728882	196728882	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:196728882G>A	ENST00000312428.6	-	41	7597	c.7497C>T	c.(7495-7497)gaC>gaT	p.D2499D		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2499	AAA 4 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						CCTGAAACCAGTCAATGGTAC	0.398													22	23					0	0	1	0	0	A	196728882	G	A	196728882	2	1	81	1	0	0	0	0	0	0	0	1	4633	1020	36	2		2	DNAH7	2	196728882	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	47368	196728882	46470491	2444	6060											
DNAH7	56171	broad.mit.edu	37	2	196729638	196729638	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:196729638C>T	ENST00000312428.6	-	41	6841	c.6741G>A	c.(6739-6741)gaG>gaA	p.E2247E		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2247					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						GCTGAAAAAGCTCATGAAAAT	0.393													32	58					0	0	1	0	0	T	196729638	C	T	196729638	2	4	81	1	0	0	0	0	0	0	0	1	4633	796	28	2		2	DNAH7	2	196729638	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	756	196729638	46469735	2445	6061											
STK17B	9262	broad.mit.edu	37	2	197021347	197021347	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:197021347T>C	ENST00000263955.4	-	3	437	c.151A>G	c.(151-153)Ata>Gta	p.I51V	STK17B_ENST00000409228.1_Missense_Mutation_p.I51V	NM_004226.3	NP_004217.1	O94768	ST17B_HUMAN	serine/threonine kinase 17b	51	Protein kinase.				apoptosis|induction of apoptosis|intracellular protein kinase cascade	nucleus	ATP binding|protein serine/threonine kinase activity			breast(1)|cervix(1)|kidney(2)|large_intestine(1)|lung(10)	15			OV - Ovarian serous cystadenocarcinoma(117;0.141)			GATTTTGATATACATTGTCTA	0.353													45	61					0	0	1	0	0	C	197021347	T	C	197021347	3	2	81	1	0	0	0	0	1	0	0	0	15347	1406	49	3	991	3	STK17B	2	197021347	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	291709	197021347	46178026	2446	6062											
HECW2	57520	broad.mit.edu	37	2	197081742	197081742	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:197081742C>A	ENST00000260983.3	-	27	4666	c.4484G>T	c.(4483-4485)aGg>aTg	p.R1495M	HECW2_ENST00000409111.1_Missense_Mutation_p.R1139M	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2		HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						CTGTAACAACCTTAGTCGTTG	0.333													7	79					8.12818e-05	8.94031e-05	1	1	0	A	197081742	C	A	197081742	3	1	81	1	0	0	0	0	1	0	0	0	7084	681	24	4	246	4	HECW2	2	197081742	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	60395	197081742	46117631	2447	6063											
HECW2	57520	broad.mit.edu	37	2	197106830	197106830	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:197106830C>T	ENST00000260983.3	-	20	3810	c.3628G>A	c.(3628-3630)Gga>Aga	p.G1210R	HECW2_ENST00000409111.1_Missense_Mutation_p.G854R	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2						protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						GGGCCTTGTCCATATCCTTTA	0.478													55	122					0	0	1	0	0	T	197106830	C	T	197106830	3	4	81	1	0	0	0	0	1	0	0	0	7084	603	21	2	1130	2	HECW2	2	197106830	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	25088	197106830	46092543	2448	6064											
CCDC150	284992	broad.mit.edu	37	2	197511104	197511104	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:197511104C>T	ENST00000389175.4	+	2	187	c.52C>T	c.(52-54)Cca>Tca	p.P18S	CCDC150_ENST00000272831.7_5'UTR|CCDC150_ENST00000423093.2_5'UTR|CCDC150_ENST00000472405.2_Intron	NM_001080539.1	NP_001074008.1	Q8NCX0	CC150_HUMAN	coiled-coil domain containing 150	18										breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(14)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	33						GGTCCTTTCTCCAACCCACAT	0.418													44	63					0	0	1	0	0	T	197511104	C	T	197511104	3	4	81	1	0	0	0	0	1	0	0	0	2803	855	30	2	58	2	CCDC150	2	197511104	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	404274	197511104	45688269	2449	6065											
CCDC150	284992	broad.mit.edu	37	2	197511119	197511119	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:197511119G>A	ENST00000389175.4	+	2	202	c.67G>A	c.(67-69)Gct>Act	p.A23T	CCDC150_ENST00000272831.7_5'UTR|CCDC150_ENST00000423093.2_5'UTR|CCDC150_ENST00000472405.2_Intron	NM_001080539.1	NP_001074008.1	Q8NCX0	CC150_HUMAN	coiled-coil domain containing 150	23										breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(14)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	33						CCACATCAACGCTACAGCTTC	0.418													42	64					0	0	1	0	0	A	197511119	G	A	197511119	3	1	81	1	0	0	0	0	1	0	0	0	2803	1087	38	1	73	1	CCDC150	2	197511119	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	15	197511119	45688254	2450	6066											
PGAP1	80055	broad.mit.edu	37	2	197708653	197708653	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:197708653T>C	ENST00000354764.4	-	25	2598	c.2484A>G	c.(2482-2484)ttA>ttG	p.L828L		NM_024989.3	NP_079265.2	Q75T13	PGAP1_HUMAN	post-GPI attachment to proteins 1						attachment of GPI anchor to protein|C-terminal protein lipidation|intracellular protein transport|myo-inositol transport	integral to membrane|intrinsic to endoplasmic reticulum membrane	nuclease activity|phosphoric ester hydrolase activity			breast(4)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|ovary(6)|stomach(1)|urinary_tract(1)	40						GCATGCTGAGTAATACAATCC	0.348													3	53					0	0	1	0	0	C	197708653	T	C	197708653	2	2	81	1	0	0	0	0	0	0	0	1	11825	1635	57	3		3	PGAP1	2	197708653	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	197534	197708653	45490720	2451	6067											
ANKRD44	91526	broad.mit.edu	37	2	197990716	197990716	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:197990716T>C	ENST00000328737.2	-	5	308	c.232A>G	c.(232-234)Agg>Ggg	p.R78G	ANKRD44_ENST00000282272.8_Missense_Mutation_p.R95G|ANKRD44_ENST00000409919.1_Missense_Mutation_p.R103G|ANKRD44_ENST00000337207.5_Missense_Mutation_p.R78G|ANKRD44_ENST00000450567.1_Missense_Mutation_p.R78G|ANKRD44_ENST00000409153.1_Missense_Mutation_p.R103G|ANKRD44_ENST00000539527.1_Missense_Mutation_p.R31G			Q8N8A2	ANR44_HUMAN	ankyrin repeat domain 44	103							protein binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.246)			TTCTTGTCCCTTGCATTGACA	0.468													11	102					0	0	1	0	0	C	197990716	T	C	197990716	3	2	81	1	0	0	0	0	1	0	0	0	666	1608	56	3	2615	3	ANKRD44	2	197990716	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	282063	197990716	45208657	2452	6068											
SF3B1	23451	broad.mit.edu	37	2	198265071	198265071	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:198265071C>T	ENST00000335508.6	-	19	2897	c.2806G>A	c.(2806-2808)Gtt>Att	p.V936I		NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa						nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding			NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			CGCCACAAAACTGTACCACAG	0.403			Mis		myelodysplastic syndrome								46	54					0	0	1	0	0	T	198265071	C	T	198265071	3	4	81	1	0	0	0	0	1	0	0	0	14203	565	20	2	1136	2	SF3B1	2	198265071	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	274355	198265071	44934302	2453	6069											
SF3B1	23451	broad.mit.edu	37	2	198266178	198266178	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:198266178A>C	ENST00000335508.6	-	17	2533	c.2442T>G	c.(2440-2442)ttT>ttG	p.F814L		NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa						nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding			NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			AGTGTTTAAAAAAGGGAGGAA	0.348			Mis		myelodysplastic syndrome								6	66					0	0	1	0	0	C	198266178	A	C	198266178	3	2	81	1	0	0	0	0	1	0	0	0	14203	11	1	5	1508	5	SF3B1	2	198266178	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	1107	198266178	44933195	2454	6070											
SF3B1	23451	broad.mit.edu	37	2	198273264	198273264	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:198273264T>C	ENST00000335508.6	-	8	1037	c.946A>G	c.(946-948)Aca>Gca	p.T316A		NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa		Interaction with PPP1R8.				nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding			NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			CCTCGATCTGTTCGAGGAGTC	0.423			Mis		myelodysplastic syndrome								10	63					0	0	1	0	0	C	198273264	T	C	198273264	3	2	81	1	0	0	0	0	1	0	0	0	14203	1725	60	3	3040	3	SF3B1	2	198273264	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	7086	198273264	44926109	2455	6071											
HSPD1	3329	broad.mit.edu	37	2	198358920	198358920	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:198358920G>A	ENST00000388968.3	-	6	928	c.661C>T	c.(661-663)Cga>Tga	p.R221*	HSPD1_ENST00000345042.2_Nonsense_Mutation_p.R221*	NM_002156.4	NP_002147.2	P10809	CH60_HUMAN	heat shock 60kDa protein 1 (chaperonin)	221					'de novo' protein folding|activation of caspase activity|B cell cytokine production|B cell proliferation|chaperone-mediated protein complex assembly|interspecies interaction between organisms|isotype switching to IgG isotypes|MyD88-dependent toll-like receptor signaling pathway|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of interferon-alpha production|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of macrophage activation|positive regulation of T cell activation|positive regulation of T cell mediated immune response to tumor cell|protein maturation|protein refolding|protein stabilization|response to unfolded protein|T cell activation	cell surface|coated pit|coated vesicle|cytosol|early endosome|extracellular space|lipopolysaccharide receptor complex|mitochondrial inner membrane|mitochondrial matrix|stored secretory granule	ATP binding|ATPase activity|cell surface binding|chaperone binding|DNA replication origin binding|lipopolysaccharide binding|p53 binding|single-stranded DNA binding			NS(1)|breast(3)|endometrium(2)|large_intestine(3)|lung(7)|skin(1)	17			Epithelial(96;0.225)			ATATAGCCTCGATCAAACTTC	0.269													21	40					0	0	1	0	0	A	198358920	G	A	198358920	4	1	81	1	0	0	0	0	0	1	0	0	7472	1066	37	1	1088	1	HSPD1	2	198358920	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	85656	198358920	44840453	2456	6072											
RFTN2	130132	broad.mit.edu	37	2	198480648	198480648	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:198480648delC	ENST00000295049.4	-	7	1642	c.1106delG	c.(1105-1107)ggafs	p.G369fs		NM_144629.2	NP_653230.2	Q52LD8	RFTN2_HUMAN	raftlin family member 2							plasma membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(13)|urinary_tract(3)	30						CAGAAGCCATCCGAATTCAGC	0.398													2	4	---	---	---	---						-	198480648	C	-	198480648	7	5	81	1	0	1	0	1	0	0	0	0	13311	855	30	0	411	0	RFTN2	2	198480648	Frame_Shift_Del	DEL	C	TCGA-DU-6392-01A-11D-1705-08	121728	198480648	44718725	2457	6073											
RFTN2	130132	broad.mit.edu	37	2	198508985	198508985	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:198508985G>A	ENST00000295049.4	-	3	871	c.335C>T	c.(334-336)tCg>tTg	p.S112L		NM_144629.2	NP_653230.2	Q52LD8	RFTN2_HUMAN	raftlin family member 2							plasma membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(13)|urinary_tract(3)	30						GGGTGCTGCCGAATTCTTTGG	0.453													17	38					0	0	1	0	0	A	198508985	G	A	198508985	3	1	81	1	0	0	0	0	1	0	0	0	13311	1059	37	1	1198	1	RFTN2	2	198508985	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	28337	198508985	44690388	2458	6074											
PLCL1	5334	broad.mit.edu	37	2	198948636	198948636	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:198948636A>G	ENST00000428675.1	+	2	793	c.395A>G	c.(394-396)aAc>aGc	p.N132S	PLCL1_ENST00000437704.2_Missense_Mutation_p.N34S	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	132	Interaction with PPP1C.|PH.				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	CGCATTTACAACCGTTTTTTC	0.443													8	25					0	0	1	0	0	G	198948636	A	G	198948636	3	3	81	1	0	0	0	0	1	0	0	0	12087	43	2	3	401	3	PLCL1	2	198948636	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	439651	198948636	44250737	2459	6075											
PLCL1	5334	broad.mit.edu	37	2	198949212	198949212	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:198949212C>A	ENST00000428675.1	+	2	1369	c.971C>A	c.(970-972)tCt>tAt	p.S324Y	PLCL1_ENST00000437704.2_Missense_Mutation_p.S226Y	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	324					intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	GTACAGATATCTAAAAACAAA	0.393													14	97					4.3838e-07	5.09097e-07	1	1	0	A	198949212	C	A	198949212	3	1	81	1	0	0	0	0	1	0	0	0	12087	913	32	4	977	4	PLCL1	2	198949212	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	576	198949212	44250161	2460	6076											
PLCL1	5334	broad.mit.edu	37	2	198950953	198950953	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:198950953G>A	ENST00000428675.1	+	2	3110	c.2712G>A	c.(2710-2712)atG>atA	p.M904I	PLCL1_ENST00000437704.2_Missense_Mutation_p.M806I	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	904					intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	GAGAAAATATGCAGGTAGGAG	0.353													4	29					0	0	1	0	0	A	198950953	G	A	198950953	3	1	81	1	0	0	0	0	1	0	0	0	12087	1319	46	2	2718	2	PLCL1	2	198950953	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1741	198950953	44248420	2461	6077											
SPATS2L	26010	broad.mit.edu	37	2	201342573	201342573	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:201342573C>T	ENST00000358677.5	+	13	1743	c.1496C>T	c.(1495-1497)cCc>cTc	p.P499L	SPATS2L_ENST00000460095.1_3'UTR|SPATS2L_ENST00000409755.3_Missense_Mutation_p.P529L|SPATS2L_ENST00000409151.1_Missense_Mutation_p.P507L|SPATS2L_ENST00000409140.3_Missense_Mutation_p.P499L|SPATS2L_ENST00000409988.3_Missense_Mutation_p.P499L|SPATS2L_ENST00000451764.2_Missense_Mutation_p.P499L|SPATS2L_ENST00000360760.5_Missense_Mutation_p.P430L|SPATS2L_ENST00000409718.1_Missense_Mutation_p.P499L|SPATS2L_ENST00000409385.1_Missense_Mutation_p.P439L	NM_001282735.1|NM_001282743.1|NM_001282744.1|NM_015535.2	NP_001269664.1|NP_001269672.1|NP_001269673.1|NP_056350.2	Q9NUQ6	SPS2L_HUMAN	spermatogenesis associated, serine-rich 2-like							cytoplasm|nucleolus				endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)	10						ATGAAGACCCCCGAGGCCCCG	0.617													3	1					0	0	1	0	0	T	201342573	C	T	201342573	3	4	81	1	0	0	0	0	1	0	0	0	15076	623	22	2	1538	2	SPATS2L	2	201342573	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2391620	201342573	41856800	2462	6078											
SGOL2	151246	broad.mit.edu	37	2	201434397	201434397	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:201434397C>A	ENST00000357799.4	+	6	583	c.485C>A	c.(484-486)aCt>aAt	p.T162N	SGOL2_ENST00000409203.3_Missense_Mutation_p.T162N	NM_001160033.1|NM_001160046.1|NM_152524.5	NP_001153505.1|NP_001153518.1|NP_689737.4	Q562F6	SGOL2_HUMAN	shugoshin-like 2 (S. pombe)	162					cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol|mitotic cohesin complex	protein binding			NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						GTTCCATTAACTTCAAATGAT	0.308													14	20					0.0202918	0.0209342	1	1	0	A	201434397	C	A	201434397	3	1	81	1	0	0	0	0	1	0	0	0	14271	565	20	4	503	4	SGOL2	2	201434397	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	91824	201434397	41764976	2463	6079											
AOX1	316	broad.mit.edu	37	2	201524722	201524722	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:201524722C>T	ENST00000374700.2	+	29	3546	c.3305C>T	c.(3304-3306)gCc>gTc	p.A1102V	AOX1_ENST00000485106.1_3'UTR	NM_001159.3	NP_001150.3	Q06278	ADO_HUMAN	aldehyde oxidase 1	1102					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			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)	CTCTAGGATGCCTGTCAAACT	0.338													8	30					0	0	1	0	0	T	201524722	C	T	201524722	3	4	81	1	0	0	0	0	1	0	0	0	725	739	26	2	3419	2	AOX1	2	201524722	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	90325	201524722	41674651	2464	6080											
AOX1	316	broad.mit.edu	37	2	201531428	201531428	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:201531428G>C	ENST00000374700.2	+	32	3803	c.3562G>C	c.(3562-3564)Gtc>Ctc	p.V1188L	AOX1_ENST00000485106.1_3'UTR	NM_001159.3	NP_001150.3	Q06278	ADO_HUMAN	aldehyde oxidase 1	1188					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			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)	AACAGACATTGTCATGGATGT	0.383													7	53					0	0	1	0	0	C	201531428	G	C	201531428	3	2	81	1	0	0	0	0	1	0	0	0	725	1377	48	5	3688	5	AOX1	2	201531428	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	6706	201531428	41667945	2465	6081											
CLK1	1195	broad.mit.edu	37	2	201722764	201722764	+	Nonsense_Mutation	SNP	G	G	T	rs140826426	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:201722764G>T	ENST00000434813.2	-	6	1057	c.723C>A	c.(721-723)taC>taA	p.Y241*	CLK1_ENST00000321356.4_Nonsense_Mutation_p.Y199*|CLK1_ENST00000409769.2_Nonsense_Mutation_p.Y22*	NM_001162407.1	NP_001155879.1	P49759	CLK1_HUMAN	CDC-like kinase 1	199	Protein kinase.				cell proliferation	nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity			NS(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(12)|ovary(1)|pancreas(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						CAGCTTCACAGTATCTATCCA	0.378													12	77					0.00010058	0.000110448	1	1	0	T	201722764	G	T	201722764	4	4	81	1	0	0	0	0	0	1	0	0	3559	1024	36	4	889	4	CLK1	2	201722764	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	191336	201722764	41476609	2466	6082											
NIF3L1	60491	broad.mit.edu	37	2	201756936	201756936	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:201756936C>A	ENST00000409020.1	+	2	564	c.270C>A	c.(268-270)ctC>ctA	p.L90L	NIF3L1_ENST00000359683.4_Silent_p.L63L|NIF3L1_ENST00000409588.1_Silent_p.L90L|NIF3L1_ENST00000416651.1_Silent_p.L90L|NIF3L1_ENST00000409357.1_Silent_p.L90L			Q9GZT8	NIF3L_HUMAN	NIF3 NGG1 interacting factor 3-like 1 (S. cerevisiae)	90					positive regulation of transcription, DNA-dependent		transcription factor binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)|urinary_tract(2)	13						ACCTCATTCTCTCCTACCATC	0.522													7	111					1	1	1	1	0	A	201756936	C	A	201756936	2	1	81	1	0	0	0	0	0	0	0	1	10463	900	32	4		4	NIF3L1	2	201756936	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	34172	201756936	41442437	2467	6083											
FAM126B	285172	broad.mit.edu	37	2	201846100	201846100	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:201846100G>A	ENST00000418596.3	-	12	1673	c.1486C>T	c.(1486-1488)Cgg>Tgg	p.R496W	AC005037.3_ENST00000413848.1_RNA	NM_173822.3	NP_776183.1	Q8IXS8	F126B_HUMAN	family with sequence similarity 126, member B							intracellular				endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16						TGACCTAGCCGGTCTTCCTGC	0.512													18	21					0	0	1	0	0	A	201846100	G	A	201846100	3	1	81	1	0	0	0	0	1	0	0	0	5461	1115	39	1	110	1	FAM126B	2	201846100	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	89164	201846100	41353273	2468	6084											
FAM126B	285172	broad.mit.edu	37	2	201887581	201887581	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:201887581A>G	ENST00000418596.3	-	4	313	c.126T>C	c.(124-126)taT>taC	p.Y42Y	FAM126B_ENST00000485144.1_5'UTR	NM_173822.3	NP_776183.1	Q8IXS8	F126B_HUMAN	family with sequence similarity 126, member B							intracellular				endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16						GAATAACTTTATAGAGGGCTG	0.333													19	50					0	0	1	0	0	G	201887581	A	G	201887581	2	3	81	1	0	0	0	0	0	0	0	1	5461	456	16	3		3	FAM126B	2	201887581	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	41481	201887581	41311792	2469	6085											
CFLAR	8837	broad.mit.edu	37	2	202025238	202025238	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:202025238C>A	ENST00000309955.3	+	9	1392	c.877C>A	c.(877-879)Ctt>Att	p.L293I	CFLAR_ENST00000355558.4_Intron|CFLAR_ENST00000443227.1_Missense_Mutation_p.L197I|CFLAR_ENST00000479953.2_Missense_Mutation_p.L197I|CFLAR_ENST00000457277.1_Missense_Mutation_p.L293I|CFLAR_ENST00000340870.5_Missense_Mutation_p.L293I|CFLAR_ENST00000341582.6_Missense_Mutation_p.L258I|CFLAR_ENST00000423241.2_Missense_Mutation_p.L293I	NM_001202515.1|NM_003879.5	NP_001189444.1|NP_003870.4	O15519	CFLAR_HUMAN	CASP8 and FADD-like apoptosis regulator		Caspase.|Interaction with TRAF1 and TRAF2.|Interaction with caspase-3.|Interaction with caspase-8 propeptide.|Interaction with caspase-8 subunits p18 and p10.|Not proteolytically processed and involved in apoptosis inhibition.				anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis		cysteine-type endopeptidase activity|protein binding	p.L293V(1)|p.L293I(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|stomach(1)	13						ATCCCAGATTCTTGGCCAATT	0.498													56	112					6.56871e-35	8.79517e-35	1	1	0	A	202025238	C	A	202025238	3	1	81	1	0	0	0	0	1	0	0	0	3314	913	32	4	971	4	CFLAR	2	202025238	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	137657	202025238	41174135	2470	6086											
CASP10	843	broad.mit.edu	37	2	202082435	202082435	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:202082435C>A	ENST00000286186.6	+	10	1975	c.1540C>A	c.(1540-1542)Cct>Act	p.P514T	CASP10_ENST00000448480.1_Intron|CASP10_ENST00000313728.7_Missense_Mutation_p.P447T|CASP10_ENST00000492363.1_3'UTR|CASP10_ENST00000272879.5_Intron|CASP10_ENST00000346817.5_Missense_Mutation_p.P471T|CASP10_ENST00000360132.3_3'UTR	NM_032977.3	NP_116759.2	Q92851	CASPA_HUMAN	caspase 10, apoptosis-related cysteine peptidase	0					apoptosis|induction of apoptosis by extracellular signals|proteolysis	cytosol|plasma membrane	cysteine-type endopeptidase activity|identical protein binding|protein binding			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	27						ACTAGTATTCCCTGTGCCCCT	0.468													49	91					1.63038e-21	2.13596e-21	1	1	0	A	202082435	C	A	202082435	3	1	81	1	0	0	0	0	1	0	0	0	2687	623	22	5	1574	5	CASP10	2	202082435	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	57197	202082435	41116938	2471	6087											
ALS2CR12	130540	broad.mit.edu	37	2	202153498	202153498	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:202153498C>A	ENST00000405148.2	-	15	1661	c.1218G>T	c.(1216-1218)aaG>aaT	p.K406N	ALS2CR12_ENST00000286190.5_Missense_Mutation_p.K406N|ALS2CR12_ENST00000392257.3_Missense_Mutation_p.K383N|ALS2CR12_ENST00000439709.1_Missense_Mutation_p.K383N	NM_139163.2	NP_631902.2	Q96Q35	AL2SB_HUMAN	amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 12	406					regulation of GTPase activity		protein binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)	21						TAGAAATTATCTTTTGCCTGT	0.378													21	34					4.96729e-08	5.86596e-08	1	1	0	A	202153498	C	A	202153498	3	1	81	1	0	0	0	0	1	0	0	0	549	912	32	4	123	4	ALS2CR12	2	202153498	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	71063	202153498	41045875	2472	6088											
ALS2CR12	130540	broad.mit.edu	37	2	202172323	202172323	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:202172323G>A	ENST00000405148.2	-	11	1241	c.798C>T	c.(796-798)ttC>ttT	p.F266F	ALS2CR12_ENST00000286190.5_Silent_p.F266F|ALS2CR12_ENST00000392257.3_Silent_p.F266F|ALS2CR12_ENST00000439709.1_Silent_p.F266F	NM_139163.2	NP_631902.2	Q96Q35	AL2SB_HUMAN	amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 12	266					regulation of GTPase activity		protein binding	p.F266F(1)		NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)	21						ACTCCATTTCGAATTTTTTGG	0.383													8	154					0	0	1	0	0	A	202172323	G	A	202172323	2	1	81	1	0	0	0	0	0	0	0	1	549	1049	37	1		1	ALS2CR12	2	202172323	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	18825	202172323	41027050	2473	6089											
TRAK2	66008	broad.mit.edu	37	2	202254547	202254547	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:202254547C>A	ENST00000332624.3	-	11	1598	c.1170G>T	c.(1168-1170)gaG>gaT	p.E390D		NM_015049.2	NP_055864.2	O60296	TRAK2_HUMAN	trafficking protein, kinesin binding 2	390	Interaction with HGS (By similarity).			Missing (in Ref. 2).		early endosome|plasma membrane	GABA receptor binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	23						GAGAAGATTCCTCATCCAAAC	0.368													7	158					0.00448238	0.00470627	1	1	0	A	202254547	C	A	202254547	3	1	81	1	0	0	0	0	1	0	0	0	16511	680	24	4	1598	4	TRAK2	2	202254547	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	82224	202254547	40944826	2474	6090											
TRAK2	66008	broad.mit.edu	37	2	202257753	202257753	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:202257753T>C	ENST00000332624.3	-	10	1420	c.992A>G	c.(991-993)gAc>gGc	p.D331G		NM_015049.2	NP_055864.2	O60296	TRAK2_HUMAN	trafficking protein, kinesin binding 2	331				Missing (in Ref. 2).		early endosome|plasma membrane	GABA receptor binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	23						CATATTCCTGTCTTGTAACTC	0.398													4	52					0	0	1	0	0	C	202257753	T	C	202257753	3	2	81	1	0	0	0	0	1	0	0	0	16511	1667	58	3	1780	3	TRAK2	2	202257753	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	3206	202257753	40941620	2475	6091											
TRAK2	66008	broad.mit.edu	37	2	202272173	202272173	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:202272173G>T	ENST00000332624.3	-	3	667	c.239C>A	c.(238-240)tCt>tAt	p.S80Y	TRAK2_ENST00000430254.1_Missense_Mutation_p.S80Y	NM_015049.2	NP_055864.2	O60296	TRAK2_HUMAN	trafficking protein, kinesin binding 2	80						early endosome|plasma membrane	GABA receptor binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	23						GAGAGCATCAGATGCATGCTG	0.403													4	35					0.00024832	0.000269806	1	1	0	T	202272173	G	T	202272173	3	4	81	1	0	0	0	0	1	0	0	0	16511	942	33	4	2561	4	TRAK2	2	202272173	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	14420	202272173	40927200	2476	6092											
STRADB	55437	broad.mit.edu	37	2	202343240	202343240	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:202343240G>A	ENST00000194530.3	+	10	1351	c.986G>A	c.(985-987)cGa>cAa	p.R329Q	STRADB_ENST00000392249.2_Missense_Mutation_p.R329Q	NM_001206864.1|NM_018571.5	NP_001193793.1|NP_061041.2	Q9C0K7	STRAB_HUMAN	STE20-related kinase adaptor beta	329	Protein kinase.				activation of protein kinase activity|cell cycle arrest|insulin receptor signaling pathway|protein export from nucleus|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|protein binding|protein kinase activity			breast(1)|large_intestine(2)|lung(5)|prostate(1)|skin(3)|stomach(1)	13						AATAGTGACCGATTACACACA	0.418													11	31					0	0	1	0	0	A	202343240	G	A	202343240	3	1	81	1	0	0	0	0	1	0	0	0	15381	1058	37	1	1020	1	STRADB	2	202343240	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	71067	202343240	40856133	2477	6093											
ALS2CR11	151254	broad.mit.edu	37	2	202412287	202412287	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:202412287C>A	ENST00000439140.1	-	10	1068	c.1024G>T	c.(1024-1026)Gat>Tat	p.D342Y	ALS2CR11_ENST00000439802.1_Missense_Mutation_p.D342Y|ALS2CR11_ENST00000450242.1_Missense_Mutation_p.D342Y|ALS2CR11_ENST00000286195.3_Missense_Mutation_p.D342Y	NM_001168221.1	NP_001161693.1	Q53TS8	AL2SA_HUMAN	amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 11	342										NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(11)|ovary(1)|skin(5)|urinary_tract(3)	33						TTAGCTTTATCTATCCATGTA	0.269													6	15					0.000157383	0.000171784	1	1	0	A	202412287	C	A	202412287	3	1	81	1	0	0	0	0	1	0	0	0	548	913	32	4	4613	4	ALS2CR11	2	202412287	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	69047	202412287	40787086	2478	6094											
ALS2CR11	151254	broad.mit.edu	37	2	202467966	202467966	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:202467966G>A	ENST00000439140.1	-	3	395	c.351C>T	c.(349-351)tgC>tgT	p.C117C	ALS2CR11_ENST00000439802.1_Silent_p.C117C|ALS2CR11_ENST00000450242.1_Silent_p.C117C|ALS2CR11_ENST00000286195.3_Silent_p.C117C	NM_001168221.1	NP_001161693.1	Q53TS8	AL2SA_HUMAN	amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 11	117										NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(11)|ovary(1)|skin(5)|urinary_tract(3)	33						TAAAATGTCTGCAGTTCTTTA	0.333													16	31					0	0	1	0	0	A	202467966	G	A	202467966	2	1	81	1	0	0	0	0	0	0	0	1	548	1311	46	2		2	ALS2CR11	2	202467966	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	55679	202467966	40731407	2479	6095											
ALS2CR11	151254	broad.mit.edu	37	2	202483717	202483717	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:202483717G>A	ENST00000439140.1	-	1	181	c.137C>T	c.(136-138)tCg>tTg	p.S46L	ALS2CR11_ENST00000439802.1_Missense_Mutation_p.S46L|ALS2CR11_ENST00000450242.1_Missense_Mutation_p.S46L|ALS2CR11_ENST00000286195.3_Missense_Mutation_p.S46L	NM_001168221.1	NP_001161693.1	Q53TS8	AL2SA_HUMAN	amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 11	46										NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(11)|ovary(1)|skin(5)|urinary_tract(3)	33						AGAAGCCTCCGACCCTTTAAT	0.602													29	34					0	0	1	0	0	A	202483717	G	A	202483717	3	1	81	1	0	0	0	0	1	0	0	0	548	1059	37	1	5536	1	ALS2CR11	2	202483717	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	15751	202483717	40715656	2480	6096											
MPP4	58538	broad.mit.edu	37	2	202549852	202549852	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:202549852C>T	ENST00000409474.3	-	7	716	c.509G>A	c.(508-510)cGc>cAc	p.R170H	MPP4_ENST00000359962.5_Missense_Mutation_p.R170H|MPP4_ENST00000428900.2_Missense_Mutation_p.R170H|MPP4_ENST00000315506.7_Missense_Mutation_p.R170H|MPP4_ENST00000409143.1_Missense_Mutation_p.R143H|MPP4_ENST00000447335.2_Missense_Mutation_p.R170H|MPP4_ENST00000396886.3_Missense_Mutation_p.R126H	NM_033066.2	NP_149055	Q96JB8	MPP4_HUMAN	membrane protein, palmitoylated 4 (MAGUK p55 subfamily member 4)	170	PDZ.					cytoplasm	protein binding			kidney(1)|lung(11)	12						CATCTCGTGGCGCTTGATGGT	0.547													4	11					0	0	1	0	0	T	202549852	C	T	202549852	3	4	81	1	0	0	0	0	1	0	0	0	9785	768	27	1	1468	1	MPP4	2	202549852	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	66135	202549852	40649521	2481	6097											
ALS2	57679	broad.mit.edu	37	2	202569277	202569278	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:202569277_202569278insA	ENST00000264276.6	-	32	5109_5110	c.4737_4738insT	c.(4735-4740)tttgagfs	p.E1580fs	ALS2_ENST00000457679.2_3'UTR	NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	1580	VPS9.				cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size	centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle	protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						GAGATCTCCTCAAAAGTCTGCT	0.426													30	47	---	---	---	---						A	202569278	-	A	202569277	7	5	81	1	0	1	1	0	0	0	0	0	546	835	29	0	247	0	ALS2	2	202569277	Frame_Shift_Ins	INS	-	TCGA-DU-6392-01A-11D-1705-08	19425	202569277	40630096	2482	6098											
ALS2	57679	broad.mit.edu	37	2	202622249	202622249	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:202622249G>A	ENST00000264276.6	-	5	1719	c.1347C>T	c.(1345-1347)agC>agT	p.S449S		NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	449					cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size	centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle	protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						GTTCTTCCCTGCTATCTTTCA	0.438													39	85					0	0	1	0	0	A	202622249	G	A	202622249	2	1	81	1	0	0	0	0	0	0	0	1	546	1310	46	2		2	ALS2	2	202622249	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	52972	202622249	40577124	2483	6099											
FZD7	8324	broad.mit.edu	37	2	202900121	202900121	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:202900121C>T	ENST00000286201.1	+	1	812	c.751C>T	c.(751-753)Cgc>Tgc	p.R251C		NM_003507.1	NP_003498.1	O75084	FZD7_HUMAN	frizzled family receptor 7	251					axonogenesis|brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|mesenchymal to epithelial transition|negative regulation of cell-substrate adhesion|negative regulation of ectodermal cell fate specification|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of phosphorylation|positive regulation of transcription, DNA-dependent|regulation of catenin import into nucleus|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			breast(1)|endometrium(6)|large_intestine(6)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	31						GGAGGAGAGGCGCTTCGCCCG	0.657											OREG0015146	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	33	34					0	0	1	0	0	T	202900121	C	T	202900121	3	4	81	1	0	0	0	0	1	0	0	0	6170	768	27	1	753	1	FZD7	2	202900121	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	277872	202900121	40299252	2484	6100											
FZD7	8324	broad.mit.edu	37	2	202900492	202900492	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:202900492C>T	ENST00000286201.1	+	1	1183	c.1122C>T	c.(1120-1122)atC>atT	p.I374I		NM_003507.1	NP_003498.1	O75084	FZD7_HUMAN	frizzled family receptor 7	374					axonogenesis|brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|mesenchymal to epithelial transition|negative regulation of cell-substrate adhesion|negative regulation of ectodermal cell fate specification|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of phosphorylation|positive regulation of transcription, DNA-dependent|regulation of catenin import into nucleus|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			breast(1)|endometrium(6)|large_intestine(6)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	31						ACGAGGCCATCGAGGCCAACT	0.632											OREG0015146	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	47					0	0	1	0	0	T	202900492	C	T	202900492	2	4	81	1	0	0	0	0	0	0	0	1	6170	874	31	1		1	FZD7	2	202900492	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	371	202900492	40298881	2485	6101											
FAM117B	150864	broad.mit.edu	37	2	203589718	203589718	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:203589718G>T	ENST00000303116.6	+	3	842	c.100G>T	c.(100-102)Gat>Tat	p.D34Y	FAM117B_ENST00000392238.2_Missense_Mutation_p.D278Y	NM_173511.3	NP_775782.2	Q6P1L5	F117B_HUMAN	family with sequence similarity 117, member B	278	Gly-rich.									breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)	17						GGGCAGTACAGATCAACTTAA	0.423													6	57					3.59834e-05	3.99423e-05	1	1	0	T	203589718	G	T	203589718	3	4	81	1	0	0	0	0	1	0	0	0	5441	942	33	4	842	4	FAM117B	2	203589718	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	689226	203589718	39609655	2486	6102											
FAM117B	150864	broad.mit.edu	37	2	203630268	203630268	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:203630268C>A	ENST00000303116.6	+	8	1561	c.819C>A	c.(817-819)atC>atA	p.I273I	FAM117B_ENST00000392238.2_Silent_p.I517I	NM_173511.3	NP_775782.2	Q6P1L5	F117B_HUMAN	family with sequence similarity 117, member B	517										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)	17						TCGTCAGCATCCTCAAGCCAC	0.498													8	91					0.000274275	0.000297259	1	1	0	A	203630268	C	A	203630268	2	1	81	1	0	0	0	0	0	0	0	1	5441	845	30	5		5	FAM117B	2	203630268	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	40550	203630268	39569105	2487	6103											
WDR12	55759	broad.mit.edu	37	2	203760929	203760929	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:203760929G>A	ENST00000261015.4	-	6	1217	c.468C>T	c.(466-468)tgC>tgT	p.C156C		NM_018256.3	NP_060726.3	Q9GZL7	WDR12_HUMAN	WD repeat domain 12		Sufficient for nucleolar localization.				cell proliferation|maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	nucleoplasm|PeBoW complex|preribosome, large subunit precursor	protein binding			endometrium(3)|large_intestine(1)|liver(1)|lung(6)|prostate(1)|skin(1)	13						TCAATAATAAGCAGGACAAAC	0.363													10	28					0	0	1	0	0	A	203760929	G	A	203760929	2	1	81	1	0	0	0	0	0	0	0	1	17334	963	34	2		2	WDR12	2	203760929	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	130661	203760929	39438444	2488	6104											
NBEAL1	65065	broad.mit.edu	37	2	204000598	204000599	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:204000598_204000599insA	ENST00000449802.1	+	27	4258_4259	c.3925_3926insA	c.(3925-3927)gaafs	p.E1309fs		NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1	1309							binding			NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						GAACTCTGATGAAAAAACAGAT	0.361													20	34	---	---	---	---						A	204000599	-	A	204000598	7	5	81	1	0	1	1	0	0	0	0	0	10236	1291	45	0	4027	0	NBEAL1	2	204000598	Frame_Shift_Ins	INS	-	TCGA-DU-6392-01A-11D-1705-08	239669	204000598	39198775	2489	6105											
NBEAL1	65065	broad.mit.edu	37	2	204001395	204001395	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:204001395C>A	ENST00000449802.1	+	28	4709	c.4376C>A	c.(4375-4377)tCt>tAt	p.S1459Y		NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1	1459							binding			NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						CTAGAAAAGTCTGATGATGAT	0.333													32	46					4.74835e-14	6.01385e-14	1	1	0	A	204001395	C	A	204001395	3	1	81	1	0	0	0	0	1	0	0	0	10236	913	32	4	4482	4	NBEAL1	2	204001395	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	797	204001395	39197978	2490	6106											
CYP20A1	57404	broad.mit.edu	37	2	204143395	204143395	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:204143395A>G	ENST00000356079.4	+	7	902	c.779A>G	c.(778-780)aAc>aGc	p.N260S	CYP20A1_ENST00000461371.1_3'UTR|CYP20A1_ENST00000429815.2_Missense_Mutation_p.N268S	NM_177538.2	NP_803882.1	Q6UW02	CP20A_HUMAN	cytochrome P450, family 20, subfamily A, polypeptide 1	260						integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen			cervix(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	11						GTACAAGGGAACCTTAATGAC	0.388													16	26					0	0	1	0	0	G	204143395	A	G	204143395	3	3	81	1	0	0	0	0	1	0	0	0	4175	43	2	3	805	3	CYP20A1	2	204143395	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	142000	204143395	39055978	2491	6107											
ABI2	10152	broad.mit.edu	37	2	204245034	204245034	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:204245034T>A	ENST00000295851.5	+	3	685	c.389T>A	c.(388-390)cTt>cAt	p.L130H	ABI2_ENST00000422511.2_Missense_Mutation_p.L130H|ABI2_ENST00000430574.1_3'UTR|ABI2_ENST00000430418.1_Missense_Mutation_p.L130H|ABI2_ENST00000424558.1_Missense_Mutation_p.L130H|ABI2_ENST00000261017.5_Missense_Mutation_p.L130H|ABI2_ENST00000261016.6_Missense_Mutation_p.L85H	NM_001282925.1|NM_001282926.1	NP_001269854.1|NP_001269855.1	Q9NYB9	ABI2_HUMAN	abl-interactor 2						actin polymerization or depolymerization|cell migration|peptidyl-tyrosine phosphorylation	cytoskeleton|cytosol|filopodium|lamellipodium	cytoskeletal adaptor activity|DNA binding|kinase binding|proline-rich region binding|SH3 domain binding|ubiquitin protein ligase binding			breast(1)|kidney(3)|large_intestine(1)|liver(2)|lung(4)|prostate(2)|skin(1)|urinary_tract(1)	15						CCAGCCAACCTTGAACGACCA	0.318													6	102					0	0	1	0	0	A	204245034	T	A	204245034	3	1	81	1	0	0	0	0	1	0	0	0	89	1609	56	5	399	5	ABI2	2	204245034	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	101639	204245034	38954339	2492	6108											
ABI2	10152	broad.mit.edu	37	2	204255867	204255867	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:204255867G>A	ENST00000295851.5	+	5	874		c.e5+1		ABI2_ENST00000422511.2_Splice_Site|ABI2_ENST00000430574.1_Splice_Site|ABI2_ENST00000430418.1_Splice_Site|ABI2_ENST00000424558.1_Splice_Site|ABI2_ENST00000261017.5_Splice_Site|ABI2_ENST00000261018.7_Splice_Site|ABI2_ENST00000261016.6_Splice_Site	NM_001282925.1|NM_001282926.1	NP_001269854.1|NP_001269855.1	Q9NYB9	ABI2_HUMAN	abl-interactor 2						actin polymerization or depolymerization|cell migration|peptidyl-tyrosine phosphorylation	cytoskeleton|cytosol|filopodium|lamellipodium	cytoskeletal adaptor activity|DNA binding|kinase binding|proline-rich region binding|SH3 domain binding|ubiquitin protein ligase binding			breast(1)|kidney(3)|large_intestine(1)|liver(2)|lung(4)|prostate(2)|skin(1)|urinary_tract(1)	15						GGACACTTGGGTGAGTATATA	0.398													7	14					0	0	1	0	0	A	204255867	G	A	204255867	5	1	81	1	0	0	0	0	0	0	1	0	89	1275	44	2	575	2	ABI2	2	204255867	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	10833	204255867	38943506	2493	6109											
CD28	940	broad.mit.edu	37	2	204599533	204599533	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:204599533G>A	ENST00000324106.8	+	4	710	c.561G>A	c.(559-561)ctG>ctA	p.L187L	CD28_ENST00000374478.4_Silent_p.L68L|CD28_ENST00000458610.2_Silent_p.L201L|CD28_ENST00000374481.3_Silent_p.L103L	NM_001243077.1|NM_006139.3	NP_001230006.1|NP_006130.1	P10747	CD28_HUMAN	CD28 molecule						cell surface receptor linked signaling pathway|cytokine biosynthetic process|humoral immune response|positive regulation of anti-apoptosis|positive regulation of interleukin-2 biosynthetic process|positive regulation of mitosis|positive regulation of translation|positive regulation of viral genome replication|regulation of defense response to virus by virus|regulatory T cell differentiation|T cell costimulation|viral reproduction	cytosol|external side of plasma membrane|integral to plasma membrane	coreceptor activity|protease binding|SH3/SH2 adaptor activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	13						GCAGGCTCCTGCACAGTGACT	0.567													28	54					0	0	1	0	0	A	204599533	G	A	204599533	2	1	81	1	0	0	0	0	0	0	0	1	3015	1306	46	2		2	CD28	2	204599533	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	343666	204599533	38599840	2494	6110											
PARD3B	117583	broad.mit.edu	37	2	205983694	205983694	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:205983694C>T	ENST00000406610.2	+	7	937	c.730C>T	c.(730-732)Cgg>Tgg	p.R244W	PARD3B_ENST00000349953.3_Missense_Mutation_p.R244W|PARD3B_ENST00000351153.1_Missense_Mutation_p.R244W|PARD3B_ENST00000358768.2_Missense_Mutation_p.R244W|PARD3B_ENST00000462231.1_Missense_Mutation_p.R244W	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN	par-3 family cell polarity regulator beta	244	PDZ 1.				cell cycle|cell division	endomembrane system|tight junction				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		CAGGTCCAAGCGGGAGGGACT	0.333													27	45					0	0	1	0	0	T	205983694	C	T	205983694	3	4	81	1	0	0	0	0	1	0	0	0	11491	759	27	1	756	1	PARD3B	2	205983694	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1384161	205983694	37215679	2495	6111											
PARD3B	117583	broad.mit.edu	37	2	206166242	206166242	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:206166242C>T	ENST00000406610.2	+	18	2654	c.2447C>T	c.(2446-2448)tCt>tTt	p.S816F	PARD3B_ENST00000349953.3_Missense_Mutation_p.S816F|PARD3B_ENST00000351153.1_Missense_Mutation_p.S747F|PARD3B_ENST00000358768.2_Missense_Mutation_p.S754F|PARD3B_ENST00000462231.1_Missense_Mutation_p.S816F	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN	par-3 family cell polarity regulator beta	816					cell cycle|cell division	endomembrane system|tight junction				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		AATTGTGAGTCTGCCCCTCAG	0.453													5	97					0	0	1	0	0	T	206166242	C	T	206166242	3	4	81	1	0	0	0	0	1	0	0	0	11491	913	32	2	2517	2	PARD3B	2	206166242	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	182548	206166242	37033131	2496	6112											
NRP2	8828	broad.mit.edu	37	2	206605345	206605345	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:206605345G>T	ENST00000360409.3	+	8	2040	c.1249G>T	c.(1249-1251)Ggt>Tgt	p.G417C	NRP2_ENST00000357785.5_Missense_Mutation_p.G417C|NRP2_ENST00000412873.2_Missense_Mutation_p.G417C|NRP2_ENST00000272849.3_Missense_Mutation_p.G417C|NRP2_ENST00000540178.1_Missense_Mutation_p.G417C|NRP2_ENST00000357118.4_Missense_Mutation_p.G417C|NRP2_ENST00000417189.1_Missense_Mutation_p.G417C|NRP2_ENST00000355117.4_Missense_Mutation_p.G417C|NRP2_ENST00000540841.1_Missense_Mutation_p.G417C	NM_003872.2|NM_201266.1|NM_201279.1	NP_003863.2|NP_957718|NP_958436.1	O60462	NRP2_HUMAN	neuropilin 2	417	F5/8 type C 1.				angiogenesis|axon guidance|cell adhesion	integral to membrane|membrane fraction|plasma membrane	heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						CTGGCACTCAGGTATCGCCCT	0.582													4	57					0.150653	0.152522	1	1	0	T	206605345	G	T	206605345	3	4	81	1	0	0	0	0	1	0	0	0	10709	1000	35	4	1279	4	NRP2	2	206605345	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	439103	206605345	36594028	2497	6113											
NRP2	8828	broad.mit.edu	37	2	206614470	206614470	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:206614470C>T	ENST00000360409.3	+	11	2599	c.1808C>T	c.(1807-1809)aCg>aTg	p.T603M	NRP2_ENST00000357785.5_Missense_Mutation_p.T603M|NRP2_ENST00000412873.2_Missense_Mutation_p.T603M|NRP2_ENST00000272849.3_Missense_Mutation_p.T603M|NRP2_ENST00000540178.1_Missense_Mutation_p.T603M|NRP2_ENST00000357118.4_Missense_Mutation_p.T603M|NRP2_ENST00000540841.1_Missense_Mutation_p.T603M	NM_003872.2|NM_201266.1|NM_201279.1	NP_003863.2|NP_957718|NP_958436.1	O60462	NRP2_HUMAN	neuropilin 2	603					angiogenesis|axon guidance|cell adhesion	integral to membrane|membrane fraction|plasma membrane	heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity	p.T603M(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						ACGGTAGAGACGCTGGGACCC	0.552													18	21					0	0	1	0	0	T	206614470	C	T	206614470	3	4	81	1	0	0	0	0	1	0	0	0	10709	536	19	1	1877	1	NRP2	2	206614470	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	9125	206614470	36584903	2498	6114											
NRP2	8828	broad.mit.edu	37	2	206659519	206659519	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:206659519T>A	ENST00000360409.3	+	17	3324	c.2533T>A	c.(2533-2535)Tca>Aca	p.S845T	NRP2_ENST00000357785.5_Missense_Mutation_p.S840T|NRP2_ENST00000412873.2_Missense_Mutation_p.S823T|NRP2_ENST00000540178.1_Missense_Mutation_p.S840T|NRP2_ENST00000540841.1_Missense_Mutation_p.S823T	NM_003872.2|NM_201266.1|NM_201279.1	NP_003863.2|NP_957718|NP_958436.1	O60462	NRP2_HUMAN	neuropilin 2	845					angiogenesis|axon guidance|cell adhesion	integral to membrane|membrane fraction|plasma membrane	heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						TTCTGCAACCTCAGGGTCTGG	0.527													5	73					0	0	1	0	0	A	206659519	T	A	206659519	3	1	81	1	0	0	0	0	1	0	0	0	10709	1551	54	5	2911	5	NRP2	2	206659519	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	45049	206659519	36539854	2499	6115											
INO80D	54891	broad.mit.edu	37	2	206872026	206872026	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:206872026C>A	ENST00000403263.1	-	10	2304	c.1900G>T	c.(1900-1902)Gat>Tat	p.D634Y		NM_017759.4	NP_060229.3	Q53TQ3	IN80D_HUMAN	INO80 complex subunit D	634					DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	26						AAATCAAAATCTTGTAAGTCA	0.353													18	32					5.3912e-06	6.11892e-06	1	1	0	A	206872026	C	A	206872026	3	1	81	1	0	0	0	0	1	0	0	0	7793	913	32	4	1191	4	INO80D	2	206872026	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	212507	206872026	36327347	2500	6116											
NDUFS1	4719	broad.mit.edu	37	2	207006690	207006690	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:207006690G>A	ENST00000233190.6	-	12	1503	c.1237C>T	c.(1237-1239)Ctg>Ttg	p.L413L	NDUFS1_ENST00000423725.1_Silent_p.L356L|NDUFS1_ENST00000440274.1_Silent_p.L377L|NDUFS1_ENST00000449699.1_Silent_p.L413L|NDUFS1_ENST00000455934.2_Silent_p.L427L|NDUFS1_ENST00000432169.1_Silent_p.L302L|NDUFS1_ENST00000457011.1_Silent_p.L297L	NM_005006.6	NP_004997.4	P28331	NDUS1_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase)						apoptosis|ATP metabolic process|mitochondrial electron transport, NADH to ubiquinone|reactive oxygen species metabolic process|regulation of mitochondrial membrane potential|transport	mitochondrial intermembrane space|mitochondrial respiratory chain complex I	2 iron, 2 sulfur cluster binding|4 iron, 4 sulfur cluster binding|electron carrier activity|metal ion binding|NADH dehydrogenase (ubiquinone) activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(15)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					NADH(DB00157)	GCATTAAACAGTGGTGCCTCA	0.328													19	39					0	0	1	0	0	A	207006690	G	A	207006690	2	1	81	1	0	0	0	0	0	0	0	1	10338	1020	36	2		2	NDUFS1	2	207006690	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	134664	207006690	36192683	2501	6117											
NDUFS1	4719	broad.mit.edu	37	2	207017192	207017192	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:207017192A>T	ENST00000233190.6	-	3	370	c.104T>A	c.(103-105)tTt>tAt	p.F35Y	NDUFS1_ENST00000423725.1_Intron|NDUFS1_ENST00000440274.1_Missense_Mutation_p.F35Y|NDUFS1_ENST00000449699.1_Missense_Mutation_p.F35Y|NDUFS1_ENST00000455934.2_Missense_Mutation_p.F49Y|NDUFS1_ENST00000432169.1_Intron|NDUFS1_ENST00000457011.1_Intron	NM_005006.6	NP_004997.4	P28331	NDUS1_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase)		2Fe-2S ferredoxin-type.				apoptosis|ATP metabolic process|mitochondrial electron transport, NADH to ubiquinone|reactive oxygen species metabolic process|regulation of mitochondrial membrane potential|transport	mitochondrial intermembrane space|mitochondrial respiratory chain complex I	2 iron, 2 sulfur cluster binding|4 iron, 4 sulfur cluster binding|electron carrier activity|metal ion binding|NADH dehydrogenase (ubiquinone) activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(15)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					NADH(DB00157)	ACCATCAACAAATACTTCAAT	0.383													5	56					0	0	1	0	0	T	207017192	A	T	207017192	3	4	81	1	0	0	0	0	1	0	0	0	10338	14	1	5	2147	5	NDUFS1	2	207017192	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	10502	207017192	36182181	2502	6118											
EEF1B2	1933	broad.mit.edu	37	2	207027218	207027218	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:207027218G>A	ENST00000392222.2	+	5	778	c.403G>A	c.(403-405)Gca>Aca	p.A135T	EEF1B2_ENST00000392221.1_Missense_Mutation_p.A135T|EEF1B2_ENST00000236957.5_Missense_Mutation_p.A135T	NM_001959.3	NP_001950.1	P24534	EF1B_HUMAN	eukaryotic translation elongation factor 1 beta 2	135						cytosol|eukaryotic translation elongation factor 1 complex	protein binding|translation elongation factor activity			breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6)	16						TTTAGAACCTGCACTTGTTGC	0.368													7	155					0	0	1	0	0	A	207027218	G	A	207027218	3	1	81	1	0	0	0	0	1	0	0	0	4951	1319	46	2	421	2	EEF1B2	2	207027218	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	10026	207027218	36172155	2503	6119											
GPR1	2825	broad.mit.edu	37	2	207041404	207041404	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:207041404T>C	ENST00000407325.2	-	3	930	c.568A>G	c.(568-570)Aat>Gat	p.N190D	GPR1_ENST00000437420.1_Missense_Mutation_p.N190D	NM_001098199.1|NM_001261452.1|NM_001261453.1|NM_001261454.1|NM_001261455.1|NM_005279.3	NP_001091669.1|NP_001248381.1|NP_001248382.1|NP_001248383.1|NP_001248384.1|NP_005270.2	P46091	GPR1_HUMAN	G protein-coupled receptor 1	190						integral to plasma membrane	G-protein coupled receptor activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	18		Lung NSC(271;7.93e-06)|Renal(323;0.000147)|Hepatocellular(293;0.000888)		UCEC - Uterine corpus endometrioid carcinoma (47;0.000241)|Epithelial(149;1.91e-37)|STAD - Stomach adenocarcinoma(1183;0.00178)|Lung(261;0.111)|LUSC - Lung squamous cell carcinoma(261;0.184)		TTCTGAAAATTGTTATAGCAA	0.418													34	33					0	0	1	0	0	C	207041404	T	C	207041404	3	2	81	1	0	0	0	0	1	0	0	0	6661	1812	63	3	503	3	GPR1	2	207041404	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	14186	207041404	36157969	2504	6120											
ZDBF2	57683	broad.mit.edu	37	2	207173681	207173681	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:207173681G>A	ENST00000374423.3	+	5	4815	c.4429G>A	c.(4429-4431)Gac>Aac	p.D1477N		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	1477							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						CAAAGAGGCAGACCTTCAGAA	0.373													8	13					0	0	1	0	0	A	207173681	G	A	207173681	3	1	81	1	0	0	0	0	1	0	0	0	17657	942	33	2	4439	2	ZDBF2	2	207173681	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	132277	207173681	36025692	2505	6121											
ZDBF2	57683	broad.mit.edu	37	2	207175566	207175566	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:207175566C>T	ENST00000374423.3	+	5	6700	c.6314C>T	c.(6313-6315)gCg>gTg	p.A2105V		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	2105							nucleic acid binding|zinc ion binding	p.A2105V(2)		endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						TCTGCTTCAGCGCCTTTAATG	0.443													25	45					0	0	1	0	0	T	207175566	C	T	207175566	3	4	81	1	0	0	0	0	1	0	0	0	17657	768	27	1	6324	1	ZDBF2	2	207175566	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1885	207175566	36023807	2506	6122											
CREB1	1385	broad.mit.edu	37	2	208440061	208440061	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:208440061C>T	ENST00000432329.2	+	7	864	c.613C>T	c.(613-615)Caa>Taa	p.Q205*	CREB1_ENST00000539789.1_3'UTR|CREB1_ENST00000430624.1_Nonsense_Mutation_p.Q191*|CREB1_ENST00000374397.4_Intron|CREB1_ENST00000536726.1_Nonsense_Mutation_p.Q191*|CREB1_ENST00000353267.3_Nonsense_Mutation_p.Q191*	NM_134442.3	NP_604391.1	P16220	CREB1_HUMAN	cAMP responsive element binding protein 1	205					activation of phospholipase C activity|axon guidance|innate immune response|interspecies interaction between organisms|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of transcription from RNA polymerase II promoter|protein phosphorylation|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway		protein dimerization activity|transcription cofactor activity		EWSR1/CREB1(44)	NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|upper_aerodigestive_tract(1)	5				LUSC - Lung squamous cell carcinoma(261;0.0768)|Epithelial(149;0.127)|Lung(261;0.145)	Adenosine monophosphate(DB00131)|Bromocriptine(DB01200)|Naloxone(DB01183)	ACAGGGCCTGCAAACATTAAC	0.473			T	EWSR1	"clear cell sarcoma, angiomatoid fibrous histiocytoma"								10	86					0	0	1	0	0	T	208440061	C	T	208440061	4	4	81	1	0	0	0	0	0	1	0	0	3877	711	25	2	635	2	CREB1	2	208440061	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1264495	208440061	34759312	2507	6123											
PLEKHM3	389072	broad.mit.edu	37	2	208811164	208811164	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:208811164C>T	ENST00000457206.1	-	4	2046	c.1619G>A	c.(1618-1620)aGt>aAt	p.S540N	PLEKHM3_ENST00000389247.4_Missense_Mutation_p.S540N|PLEKHM3_ENST00000427836.2_Missense_Mutation_p.S540N			Q6ZWE6	PKHM3_HUMAN	pleckstrin homology domain containing, family M, member 3	540					intracellular signal transduction		metal ion binding			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GTGGCAGCTACTGCAGTAATA	0.458													48	71					0	0	1	0	0	T	208811164	C	T	208811164	3	4	81	1	0	0	0	0	1	0	0	0	12130	565	20	2	686	2	PLEKHM3	2	208811164	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	371103	208811164	34388209	2508	6124											
PLEKHM3	389072	broad.mit.edu	37	2	208841666	208841666	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:208841666C>T	ENST00000457206.1	-	3	1682	c.1255G>A	c.(1255-1257)Gat>Aat	p.D419N	PLEKHM3_ENST00000389247.4_Missense_Mutation_p.D419N|PLEKHM3_ENST00000427836.2_Missense_Mutation_p.D419N			Q6ZWE6	PKHM3_HUMAN	pleckstrin homology domain containing, family M, member 3	419	PH 2.				intracellular signal transduction		metal ion binding			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TCGCAGCCATCCAGGTTGTCC	0.552													15	16					0	0	1	0	0	T	208841666	C	T	208841666	3	4	81	1	0	0	0	0	1	0	0	0	12130	855	30	2	1054	2	PLEKHM3	2	208841666	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	30502	208841666	34357707	2509	6125											
PLEKHM3	389072	broad.mit.edu	37	2	208866154	208866154	+	Silent	SNP	G	G	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:208866154G>C	ENST00000457206.1	-	2	637	c.210C>G	c.(208-210)ggC>ggG	p.G70G	PLEKHM3_ENST00000389247.4_Silent_p.G70G|PLEKHM3_ENST00000427836.2_Silent_p.G70G			Q6ZWE6	PKHM3_HUMAN	pleckstrin homology domain containing, family M, member 3	70					intracellular signal transduction		metal ion binding			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CCCAAATCATGCCCCCCTTGC	0.502													18	43					0	0	1	0	0	C	208866154	G	C	208866154	2	2	81	1	0	0	0	0	0	0	0	1	12130	1306	46	5		5	PLEKHM3	2	208866154	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	24488	208866154	34333219	2510	6126											
PLEKHM3	389072	broad.mit.edu	37	2	208866313	208866313	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:208866313C>A	ENST00000457206.1	-	2	478	c.51G>T	c.(49-51)gaG>gaT	p.E17D	PLEKHM3_ENST00000389247.4_Missense_Mutation_p.E17D|PLEKHM3_ENST00000427836.2_Missense_Mutation_p.E17D			Q6ZWE6	PKHM3_HUMAN	pleckstrin homology domain containing, family M, member 3	17					intracellular signal transduction		metal ion binding			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TAAAGAATTCCTCCGTAACTT	0.498													7	119					5.18039e-06	5.88187e-06	1	1	0	A	208866313	C	A	208866313	3	1	81	1	0	0	0	0	1	0	0	0	12130	680	24	4	2262	4	PLEKHM3	2	208866313	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	159	208866313	34333060	2511	6127											
PLEKHM3	389072	broad.mit.edu	37	2	208866335	208866335	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:208866335C>T	ENST00000457206.1	-	2	456	c.29G>A	c.(28-30)aGc>aAc	p.S10N	PLEKHM3_ENST00000389247.4_Missense_Mutation_p.S10N|PLEKHM3_ENST00000427836.2_Missense_Mutation_p.S10N			Q6ZWE6	PKHM3_HUMAN	pleckstrin homology domain containing, family M, member 3	10					intracellular signal transduction		metal ion binding			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TAAGGCTGGGCTGATATCATC	0.478													6	123					0	0	1	0	0	T	208866335	C	T	208866335	3	4	81	1	0	0	0	0	1	0	0	0	12130	797	28	2	2284	2	PLEKHM3	2	208866335	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	22	208866335	34333038	2512	6128											
CRYGA	1418	broad.mit.edu	37	2	209027941	209027941	+	Missense_Mutation	SNP	C	C	T	rs139353014	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:209027941C>T	ENST00000304502.4	-	2	258	c.239G>A	c.(238-240)cGt>cAt	p.R80H		NM_014617.3	NP_055432.2			crystallin, gamma A											endometrium(1)|kidney(3)|large_intestine(1)|lung(7)	12				Epithelial(149;0.067)|LUSC - Lung squamous cell carcinoma(261;0.0708)|Lung(261;0.135)		AGGAATTATACGGCAGGATTG	0.498													18	26					0	0	1	0	0	T	209027941	C	T	209027941	3	4	81	1	0	0	0	0	1	0	0	0	3937	536	19	1	293	1	CRYGA	2	209027941	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	161606	209027941	34171432	2513	6129											
MAP2	4133	broad.mit.edu	37	2	210558266	210558266	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:210558266A>C	ENST00000360351.4	+	7	1878	c.1372A>C	c.(1372-1374)Aaa>Caa	p.K458Q	MAP2_ENST00000447185.1_Missense_Mutation_p.K454Q|MAP2_ENST00000392194.1_Intron|MAP2_ENST00000361559.4_Intron|MAP2_ENST00000199940.6_Intron	NM_002374.3	NP_002365.3	P11137	MAP2_HUMAN	microtubule-associated protein 2	458					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	AGCTGTGCCAAAAGAGAGTAA	0.438													7	50					0	0	1	0	0	C	210558266	A	C	210558266	3	2	81	1	0	0	0	0	1	0	0	0	9285	15	1	5	1386	5	MAP2	2	210558266	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	1530325	210558266	32641107	2514	6130											
MAP2	4133	broad.mit.edu	37	2	210559424	210559424	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:210559424C>T	ENST00000360351.4	+	7	3036	c.2530C>T	c.(2530-2532)Cgt>Tgt	p.R844C	MAP2_ENST00000447185.1_Missense_Mutation_p.R840C|MAP2_ENST00000392194.1_Intron|MAP2_ENST00000361559.4_Intron|MAP2_ENST00000199940.6_Intron	NM_002374.3	NP_002365.3	P11137	MAP2_HUMAN	microtubule-associated protein 2	844					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	TGAGGATAGTCGTACTGGCTT	0.493													5	94					0	0	1	0	0	T	210559424	C	T	210559424	3	4	81	1	0	0	0	0	1	0	0	0	9285	884	31	1	2544	1	MAP2	2	210559424	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1158	210559424	32639949	2515	6131											
MAP2	4133	broad.mit.edu	37	2	210559779	210559779	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:210559779C>T	ENST00000360351.4	+	7	3391	c.2885C>T	c.(2884-2886)aCt>aTt	p.T962I	MAP2_ENST00000447185.1_Missense_Mutation_p.T958I|MAP2_ENST00000392194.1_Intron|MAP2_ENST00000361559.4_Intron|MAP2_ENST00000199940.6_Intron	NM_002374.3	NP_002365.3	P11137	MAP2_HUMAN	microtubule-associated protein 2	962					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	AGGTTGGATACTGTACTAGAA	0.403													28	52					0	0	1	0	0	T	210559779	C	T	210559779	3	4	81	1	0	0	0	0	1	0	0	0	9285	565	20	2	2899	2	MAP2	2	210559779	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	355	210559779	32639594	2516	6132											
MAP2	4133	broad.mit.edu	37	2	210560108	210560108	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:210560108C>A	ENST00000360351.4	+	7	3720	c.3214C>A	c.(3214-3216)Ctt>Att	p.L1072I	MAP2_ENST00000447185.1_Missense_Mutation_p.L1068I|MAP2_ENST00000392194.1_Intron|MAP2_ENST00000361559.4_Intron|MAP2_ENST00000199940.6_Intron	NM_002374.3	NP_002365.3	P11137	MAP2_HUMAN	microtubule-associated protein 2	1072					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	AGAGCTAAAACTTGAGGCTAC	0.463													24	42					3.08376e-08	3.65884e-08	1	1	0	A	210560108	C	A	210560108	3	1	81	1	0	0	0	0	1	0	0	0	9285	565	20	4	3228	4	MAP2	2	210560108	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	329	210560108	32639265	2517	6133											
MAP2	4133	broad.mit.edu	37	2	210588343	210588343	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:210588343G>A	ENST00000199940.6	+	12	1641	c.1201G>A	c.(1201-1203)Gat>Aat	p.D401N	MAP2_ENST00000360351.4_Intron|MAP2_ENST00000447185.1_Intron|MAP2_ENST00000392194.1_Intron|MAP2_ENST00000475600.1_3'UTR|MAP2_ENST00000361559.4_Intron	NM_001039538.1	NP_001034627.1	P11137	MAP2_HUMAN	microtubule-associated protein 2	1674					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	CAAGAAGATCGATTTTAGCAA	0.413													6	42					0	0	1	0	0	A	210588343	G	A	210588343	3	1	81	1	0	0	0	0	1	0	0	0	9285	1058	37	1	5311	1	MAP2	2	210588343	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	28235	210588343	32611030	2518	6134											
ACADL	33	broad.mit.edu	37	2	211057568	211057568	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:211057568G>T	ENST00000233710.3	-	10	1386	c.1159C>A	c.(1159-1161)Cat>Aat	p.H387N	AC006994.2_ENST00000412065.1_RNA	NM_001608.3	NP_001599.1	P28330	ACADL_HUMAN	acyl-CoA dehydrogenase, long chain	387					carnitine catabolic process|carnitine metabolic process, CoA-linked|fatty acid beta-oxidation using acyl-CoA dehydrogenase|negative regulation of fatty acid biosynthetic process|negative regulation of fatty acid oxidation|regulation of cholesterol metabolic process|temperature homeostasis	mitochondrial matrix	long-chain-acyl-CoA dehydrogenase activity|palmitoyl-CoA oxidase activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	14		Renal(323;0.202)		Epithelial(149;0.00631)|Lung(261;0.0438)|LUSC - Lung squamous cell carcinoma(261;0.0466)|all cancers(144;0.0621)		CAACCTCCATGGAGCTGTACA	0.353													4	55					0.00909568	0.00944708	1	1	0	T	211057568	G	T	211057568	3	4	81	1	0	0	0	0	1	0	0	0	112	1348	47	5	141	5	ACADL	2	211057568	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	469225	211057568	32141805	2519	6135											
MYL1	4632	broad.mit.edu	37	2	211159037	211159037	+	Missense_Mutation	SNP	C	C	T	rs139030210		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:211159037C>T	ENST00000352451.3	-	4	557	c.410G>A	c.(409-411)cGt>cAt	p.R137H	MYL1_ENST00000341685.4_Missense_Mutation_p.R93H|MYL1_ENST00000496436.1_5'UTR	NM_079420.2	NP_524144.1	P05976	MYL1_HUMAN	myosin, light chain 1, alkali; skeletal, fast	137	EF-hand 2.				muscle filament sliding|muscle organ development	cytosol|muscle myosin complex|sarcomere	calcium ion binding|structural constituent of muscle			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)	16				Epithelial(149;0.00573)|Lung(261;0.0422)|LUSC - Lung squamous cell carcinoma(261;0.0444)|all cancers(144;0.057)		GTCAAAGACACGCAGACCCTC	0.463													24	36					0	0	1	0	0	T	211159037	C	T	211159037	3	4	81	1	0	0	0	0	1	0	0	0	10091	536	19	1	186	1	MYL1	2	211159037	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	101469	211159037	32040336	2520	6136											
LANCL1	10314	broad.mit.edu	37	2	211302421	211302421	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:211302421G>A	ENST00000443314.1	-	6	1208	c.866C>T	c.(865-867)gCc>gTc	p.A289V	LANCL1_ENST00000450366.2_Missense_Mutation_p.A289V|LANCL1_ENST00000431941.2_Missense_Mutation_p.A289V|LANCL1_ENST00000233714.4_Missense_Mutation_p.A289V|LANCL1_ENST00000441020.3_Missense_Mutation_p.A289V|AC007970.1_ENST00000420418.1_RNA|AC007970.1_ENST00000433296.1_RNA			O43813	LANC1_HUMAN	LanC lantibiotic synthetase component C-like 1 (bacterial)	289						cytoplasm|integral to plasma membrane|microtubule cytoskeleton|nucleus	catalytic activity|G-protein coupled receptor activity|glutathione binding|low-density lipoprotein particle receptor binding|SH3 domain binding|zinc ion binding			breast(1)|large_intestine(5)|liver(1)|lung(4)|prostate(1)	12				Epithelial(149;0.00562)|Lung(261;0.0468)|LUSC - Lung squamous cell carcinoma(261;0.0495)|all cancers(144;0.0569)		TACCTTATAGGCCTGGATGAG	0.348													16	32					0	0	1	0	0	A	211302421	G	A	211302421	3	1	81	1	0	0	0	0	1	0	0	0	8659	1203	42	2	349	2	LANCL1	2	211302421	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	143384	211302421	31896952	2521	6137											
CPS1	1373	broad.mit.edu	37	2	211469970	211469970	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:211469970G>T	ENST00000233072.5	+	17	2177	c.1981G>T	c.(1981-1983)Ggt>Tgt	p.G661C	CPS1_ENST00000430249.2_Splice_Site_p.G667C|CPS1_ENST00000451903.2_Splice_Site_p.G210C	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	661	ATP-grasp 1.				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		TGTTCACACAGGTAGGCAAAG	0.373													7	91					2.0095e-06	2.30238e-06	1	1	0	T	211469970	G	T	211469970	5	4	81	1	0	0	0	0	0	0	1	0	3846	1014	35	4	2069	4	CPS1	2	211469970	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	167549	211469970	31729403	2522	6138											
ERBB4	2066	broad.mit.edu	37	2	212293204	212293204	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:212293204G>A	ENST00000342788.4	-	22	2958	c.2648C>T	c.(2647-2649)cCa>cTa	p.P883L	ERBB4_ENST00000402597.1_Missense_Mutation_p.P873L|ERBB4_ENST00000436443.1_Missense_Mutation_p.P883L	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	883	Protein kinase.				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	p.P883L(1)		NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		CCATTTAATTGGCATCTATAG	0.328										TSP Lung(8;0.080)			28	25					0	0	1	0	0	A	212293204	G	A	212293204	3	1	81	1	0	0	0	0	1	0	0	0	5237	1348	47	2	1306	2	ERBB4	2	212293204	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	823234	212293204	30906169	2523	6139											
ERBB4	2066	broad.mit.edu	37	2	212543838	212543838	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:212543838G>T	ENST00000342788.4	-	13	1871	c.1561C>A	c.(1561-1563)Ctg>Atg	p.L521M	ERBB4_ENST00000402597.1_Missense_Mutation_p.L521M|ERBB4_ENST00000436443.1_Missense_Mutation_p.L521M	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	521	Cys-rich.				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		CGACACGACAGACATTGGTCT	0.498										TSP Lung(8;0.080)			5	26					1.23904e-05	1.39156e-05	1	1	0	T	212543838	G	T	212543838	3	4	81	1	0	0	0	0	1	0	0	0	5237	933	33	4	2429	4	ERBB4	2	212543838	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	250634	212543838	30655535	2524	6140											
ERBB4	2066	broad.mit.edu	37	2	212989497	212989497	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:212989497G>A	ENST00000342788.4	-	2	524	c.214C>T	c.(214-216)Cgg>Tgg	p.R72W	ERBB4_ENST00000402597.1_Missense_Mutation_p.R72W|ERBB4_ENST00000436443.1_Missense_Mutation_p.R72W	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	72					cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		GAGAGGTCCCGGTTGTGCTCA	0.507										TSP Lung(8;0.080)			3	52					0	0	1	0	0	A	212989497	G	A	212989497	3	1	81	1	0	0	0	0	1	0	0	0	5237	1115	39	1	3820	1	ERBB4	2	212989497	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	445659	212989497	30209876	2525	6141											
SPAG16	79582	broad.mit.edu	37	2	214239746	214239746	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:214239746G>A	ENST00000331683.5	+	9	940	c.845G>A	c.(844-846)cGt>cAt	p.R282H	SPAG16_ENST00000447990.1_Missense_Mutation_p.R282H|SPAG16_ENST00000374309.3_Missense_Mutation_p.R188H|SPAG16_ENST00000272898.7_Missense_Mutation_p.R282H	NM_024532.4	NP_078808.3	Q8N0X2	SPG16_HUMAN	sperm associated antigen 16	282					cilium assembly	cilium axoneme|flagellar axoneme				endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	56		Renal(323;0.00461)		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)		GATCATAGTCGTGAAAAAGAA	0.323													12	24					0	0	1	0	0	A	214239746	G	A	214239746	3	1	81	1	0	0	0	0	1	0	0	0	15034	1145	40	1	895	1	SPAG16	2	214239746	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1250249	214239746	28959627	2526	6142											
BARD1	580	broad.mit.edu	37	2	215645746	215645746	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:215645746C>A	ENST00000260947.4	-	4	986	c.852G>T	c.(850-852)gaG>gaT	p.E284D	BARD1_ENST00000449967.2_Missense_Mutation_p.E140D|BARD1_ENST00000471787.1_5'UTR	NM_000465.2|NM_001282543.1|NM_001282545.1|NM_001282548.1	NP_000456.2|NP_001269472.1|NP_001269474.1|NP_001269477.1	Q99728	BARD1_HUMAN	BRCA1 associated RING domain 1	284					cell cycle arrest|DNA repair|negative regulation of apoptosis|negative regulation of mRNA 3'-end processing|negative regulation of protein export from nucleus|positive regulation of apoptosis|positive regulation of protein catabolic process|protein K6-linked ubiquitination|regulation of phosphorylation|tissue homeostasis	BRCA1-A complex|BRCA1-BARD1 complex|cytoplasm	kinase binding|protein heterodimerization activity|protein homodimerization activity|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			NS(2)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|prostate(4)|upper_aerodigestive_tract(1)	35		Renal(323;0.0243)		Epithelial(149;3.2e-06)|all cancers(144;0.000461)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		ACTCTATTTGCTCAGCCAATG	0.383									Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				35	58					4.4194e-11	5.45873e-11	1	1	0	A	215645746	C	A	215645746	3	1	81	1	0	0	0	0	1	0	0	0	1310	796	28	4	1513	4	BARD1	2	215645746	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1406000	215645746	27553627	2527	6143											
BARD1	580	broad.mit.edu	37	2	215646227	215646227	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:215646227T>G	ENST00000260947.4	-	4	505	c.371A>C	c.(370-372)aAa>aCa	p.K124T	BARD1_ENST00000449967.2_5'UTR|BARD1_ENST00000471787.1_5'UTR	NM_000465.2|NM_001282543.1|NM_001282545.1|NM_001282548.1	NP_000456.2|NP_001269472.1|NP_001269474.1|NP_001269477.1	Q99728	BARD1_HUMAN	BRCA1 associated RING domain 1	124					cell cycle arrest|DNA repair|negative regulation of apoptosis|negative regulation of mRNA 3'-end processing|negative regulation of protein export from nucleus|positive regulation of apoptosis|positive regulation of protein catabolic process|protein K6-linked ubiquitination|regulation of phosphorylation|tissue homeostasis	BRCA1-A complex|BRCA1-BARD1 complex|cytoplasm	kinase binding|protein heterodimerization activity|protein homodimerization activity|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			NS(2)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|prostate(4)|upper_aerodigestive_tract(1)	35		Renal(323;0.0243)		Epithelial(149;3.2e-06)|all cancers(144;0.000461)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TTTATCTTCTTTCAAATCTGA	0.333									Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				7	66					0	0	1	0	0	G	215646227	T	G	215646227	3	3	81	1	0	0	0	0	1	0	0	0	1310	1841	64	5	1994	5	BARD1	2	215646227	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	481	215646227	27553146	2528	6144											
ABCA12	26154	broad.mit.edu	37	2	215819927	215819927	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:215819927G>T	ENST00000272895.7	-	43	6611	c.6392C>A	c.(6391-6393)cCg>cAg	p.P2131Q	ABCA12_ENST00000389661.4_Splice_Site_p.P1813Q|AC072062.1_ENST00000607412.1_RNA	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	2131					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		GGACCTTACCGGATCATTAGG	0.343													13	32					3.27435e-08	3.88014e-08	1	1	0	T	215819927	G	T	215819927	5	4	81	1	0	0	0	0	0	0	1	0	30	1130	39	5	1439	5	ABCA12	2	215819927	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	173700	215819927	27379446	2529	6145											
ABCA12	26154	broad.mit.edu	37	2	215838767	215838767	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:215838767C>A	ENST00000272895.7	-	36	5688		c.e36-1		ABCA12_ENST00000389661.4_Splice_Site	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12						cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TAAACACTGTCTGCAAGTTAA	0.368													19	34					1.67942e-08	2.00033e-08	1	1	0	A	215838767	C	A	215838767	5	1	81	1	0	0	0	0	0	0	1	0	30	927	32	4	2391	4	ABCA12	2	215838767	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	18840	215838767	27360606	2530	6146											
ABCA12	26154	broad.mit.edu	37	2	215876285	215876285	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:215876285T>G	ENST00000272895.7	-	17	2429	c.2210A>C	c.(2209-2211)gAa>gCa	p.E737A	ABCA12_ENST00000389661.4_Missense_Mutation_p.E419A	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	737					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		AGTTAAATATTCAGTGGTAAT	0.403													43	64					0	0	1	0	0	G	215876285	T	G	215876285	3	3	81	1	0	0	0	0	1	0	0	0	30	1783	62	5	5725	5	ABCA12	2	215876285	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	37518	215876285	27323088	2531	6147											
FN1	2335	broad.mit.edu	37	2	216230269	216230269	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:216230269G>A	ENST00000354785.4	-	43	7472	c.7103C>T	c.(7102-7104)aCa>aTa	p.T2368I	FN1_ENST00000446046.1_Missense_Mutation_p.T2221I|FN1_ENST00000432072.2_Missense_Mutation_p.T2158I|FN1_ENST00000345488.5_Missense_Mutation_p.T2075I|FN1_ENST00000359671.1_Missense_Mutation_p.T2277I|FN1_ENST00000346544.3_Missense_Mutation_p.T2102I|FN1_ENST00000336916.4_Missense_Mutation_p.T2246I|FN1_ENST00000357009.2_3'UTR|FN1_ENST00000356005.4_Missense_Mutation_p.T2187I|FN1_ENST00000323926.6_Missense_Mutation_p.T2337I|FN1_ENST00000357867.4_Missense_Mutation_p.T2067I|FN1_ENST00000443816.1_Missense_Mutation_p.T2156I|FN1_ENST00000421182.1_Missense_Mutation_p.T2131I			P02751	FINC_HUMAN	fibronectin 1	2277					acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CCCAAGACATGTGCAGCTCAT	0.458													7	163					0	0	1	0	0	A	216230269	G	A	216230269	3	1	81	1	0	0	0	0	1	0	0	0	5995	1377	48	2	346	2	FN1	2	216230269	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	353984	216230269	26969104	2532	6148											
FN1	2335	broad.mit.edu	37	2	216285518	216285518	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:216285518C>T	ENST00000354785.4	-	11	1922	c.1553G>A	c.(1552-1554)tGc>tAc	p.C518Y	FN1_ENST00000432072.2_Missense_Mutation_p.C518Y|FN1_ENST00000345488.5_Missense_Mutation_p.C518Y|FN1_ENST00000359671.1_Missense_Mutation_p.C518Y|FN1_ENST00000346544.3_Missense_Mutation_p.C518Y|FN1_ENST00000336916.4_Missense_Mutation_p.C518Y|FN1_ENST00000426059.1_Missense_Mutation_p.C518Y|FN1_ENST00000357009.2_Missense_Mutation_p.C518Y|FN1_ENST00000356005.4_Missense_Mutation_p.C518Y|FN1_ENST00000323926.6_Missense_Mutation_p.C518Y|FN1_ENST00000446046.1_Missense_Mutation_p.C518Y|FN1_ENST00000357867.4_Missense_Mutation_p.C518Y|FN1_ENST00000443816.1_Missense_Mutation_p.C518Y|FN1_ENST00000421182.1_Missense_Mutation_p.C518Y			P02751	FINC_HUMAN	fibronectin 1	518	Collagen-binding.|Fibronectin type-I 8.			C -> R (in Ref. 4; CAD97791).	acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	ATCAACAATGCACTGATCTGT	0.433													19	32					0	0	1	0	0	T	216285518	C	T	216285518	3	4	81	1	0	0	0	0	1	0	0	0	5995	710	25	2	6057	2	FN1	2	216285518	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	55249	216285518	26913855	2533	6149											
FN1	2335	broad.mit.edu	37	2	216293036	216293036	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:216293036C>A	ENST00000354785.4	-	6	1080	c.711G>T	c.(709-711)agG>agT	p.R237S	FN1_ENST00000432072.2_Missense_Mutation_p.R237S|FN1_ENST00000345488.5_Missense_Mutation_p.R237S|FN1_ENST00000359671.1_Missense_Mutation_p.R237S|FN1_ENST00000346544.3_Missense_Mutation_p.R237S|FN1_ENST00000336916.4_Missense_Mutation_p.R237S|FN1_ENST00000426059.1_Missense_Mutation_p.R237S|FN1_ENST00000357009.2_Missense_Mutation_p.R237S|FN1_ENST00000356005.4_Missense_Mutation_p.R237S|FN1_ENST00000323926.6_Missense_Mutation_p.R237S|FN1_ENST00000446046.1_Missense_Mutation_p.R237S|FN1_ENST00000357867.4_Missense_Mutation_p.R237S|FN1_ENST00000443816.1_Missense_Mutation_p.R237S|FN1_ENST00000421182.1_Missense_Mutation_p.R237S			P02751	FINC_HUMAN	fibronectin 1	237	Fibrin- and heparin-binding 1.|Fibronectin type-I 5.				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TATAGGATGTCCTTGTGTCCT	0.468													19	37					5.26018e-13	6.61446e-13	1	1	0	A	216293036	C	A	216293036	3	1	81	1	0	0	0	0	1	0	0	0	5995	854	30	5	6919	5	FN1	2	216293036	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	7518	216293036	26906337	2534	6150											
PECR	55825	broad.mit.edu	37	2	216914079	216914079	+	Missense_Mutation	SNP	C	C	A	rs148712165	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:216914079C>A	ENST00000265322.7	-	6	695	c.621G>T	c.(619-621)caG>caT	p.Q207H	PECR_ENST00000497889.1_5'UTR	NM_018441.5	NP_060911.2	Q9BY49	PECR_HUMAN	peroxisomal trans-2-enoyl-CoA reductase	207					fatty acid biosynthetic process|regulation of apoptosis	peroxisome	binding|trans-2-enoyl-CoA reductase (NADPH) activity			endometrium(2)|kidney(1)|liver(1)|lung(9)|stomach(1)	14		Renal(323;0.0327)		Epithelial(149;3.8e-06)|all cancers(144;0.000272)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Adenine(DB00173)	CCACAGCAGTCTGGGAATAAA	0.363													6	110					0.00116845	0.00124301	1	1	0	A	216914079	C	A	216914079	3	1	81	1	0	0	0	0	1	0	0	0	11764	912	32	4	302	4	PECR	2	216914079	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	621043	216914079	26285294	2535	6151											
XRCC5	7520	broad.mit.edu	37	2	217012882	217012882	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:217012882C>A	ENST00000392133.3	+	16	2014	c.1553C>A	c.(1552-1554)cCt>cAt	p.P518H	XRCC5_ENST00000392132.2_Missense_Mutation_p.P518H			P13010	XRCC5_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining)	518	Pro-rich.				double-strand break repair via nonhomologous end joining|initiation of viral infection|negative regulation of transcription, DNA-dependent|provirus integration|telomere maintenance|transcription, DNA-dependent	Ku70:Ku80 complex|nonhomologous end joining complex|nuclear telomere cap complex|nucleoplasm	ATP binding|ATP-dependent DNA helicase activity|double-stranded DNA binding|protein C-terminus binding|telomeric DNA binding|transcription regulatory region DNA binding			endometrium(1)|kidney(3)|large_intestine(8)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		Renal(323;0.0328)		Epithelial(149;9.78e-06)|all cancers(144;0.000632)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.0117)		ATGCTGAATCCTCCCGCTGAG	0.438								Non-homologous end-joining					5	103					0.00116845	0.00124301	1	1	0	A	217012882	C	A	217012882	3	1	81	1	0	0	0	0	1	0	0	0	17516	681	24	4	1607	4	XRCC5	2	217012882	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	98803	217012882	26186491	2536	6152											
XRCC5	7520	broad.mit.edu	37	2	217069920	217069920	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:217069920A>G	ENST00000392133.3	+	23	2655	c.2194A>G	c.(2194-2196)Ata>Gta	p.I732V	XRCC5_ENST00000392132.2_Missense_Mutation_p.I732V			P13010	XRCC5_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining)	732					double-strand break repair via nonhomologous end joining|initiation of viral infection|negative regulation of transcription, DNA-dependent|provirus integration|telomere maintenance|transcription, DNA-dependent	Ku70:Ku80 complex|nonhomologous end joining complex|nuclear telomere cap complex|nucleoplasm	ATP binding|ATP-dependent DNA helicase activity|double-stranded DNA binding|protein C-terminus binding|telomeric DNA binding|transcription regulatory region DNA binding			endometrium(1)|kidney(3)|large_intestine(8)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		Renal(323;0.0328)		Epithelial(149;9.78e-06)|all cancers(144;0.000632)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.0117)		GTTGGACATGATATAGGTCGT	0.453								Non-homologous end-joining					50	80					0	0	1	0	0	G	217069920	A	G	217069920	3	3	81	1	0	0	0	0	1	0	0	0	17516	333	12	3	2276	3	XRCC5	2	217069920	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	57038	217069920	26129453	2537	6153											
MARCH4	57574	broad.mit.edu	37	2	217124103	217124103	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:217124103T>C	ENST00000273067.4	-	4	2931	c.1165A>G	c.(1165-1167)Aga>Gga	p.R389G		NM_020814.2	NP_065865.1	Q9P2E8	MARH4_HUMAN	membrane-associated ring finger (C3HC4) 4, E3 ubiquitin protein ligase	389						Golgi membrane|Golgi stack|integral to membrane|trans-Golgi network	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(1)	20		Renal(323;0.0854)		Epithelial(149;2.19e-05)|all cancers(144;0.00121)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0125)		TCATGAGGTCTCAAGTGACTC	0.622													30	40					0	0	1	0	0	C	217124103	T	C	217124103	3	2	81	1	0	0	0	0	1	0	0	0	9353	1559	54	3	71	3	MARCH4	2	217124103	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	54183	217124103	26075270	2538	6154											
MARCH4	57574	broad.mit.edu	37	2	217142452	217142452	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:217142452C>A	ENST00000273067.4	-	3	2574	c.808G>T	c.(808-810)Gac>Tac	p.D270Y		NM_020814.2	NP_065865.1	Q9P2E8	MARH4_HUMAN	membrane-associated ring finger (C3HC4) 4, E3 ubiquitin protein ligase	270						Golgi membrane|Golgi stack|integral to membrane|trans-Golgi network	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(1)	20		Renal(323;0.0854)		Epithelial(149;2.19e-05)|all cancers(144;0.00121)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0125)		AAGAGAAGGTCTTGGCGCTGC	0.562													12	104					3.27435e-08	3.88014e-08	1	1	0	A	217142452	C	A	217142452	3	1	81	1	0	0	0	0	1	0	0	0	9353	913	32	4	432	4	MARCH4	2	217142452	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	18349	217142452	26056921	2539	6155											
IGFBP5	3488	broad.mit.edu	37	2	217543716	217543716	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:217543716T>C	ENST00000233813.4	-	2	1173	c.424A>G	c.(424-426)Acc>Gcc	p.T142A		NM_000599.3	NP_000590.1	P24593	IBP5_HUMAN	insulin-like growth factor binding protein 5	142					negative regulation of insulin-like growth factor receptor signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell proliferation|negative regulation of translation|signal transduction		insulin-like growth factor I binding			endometrium(1)|large_intestine(3)|lung(1)	5		Renal(323;0.0822)		Epithelial(149;2.1e-06)|all cancers(144;0.000165)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GAGATGCGGGTGTGTTTGGGC	0.602													19	38					0	0	1	0	0	C	217543716	T	C	217543716	3	2	81	1	0	0	0	0	1	0	0	0	7626	1696	59	3	406	3	IGFBP5	2	217543716	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	401264	217543716	25655657	2540	6156											
TNS1	7145	broad.mit.edu	37	2	218745683	218745683	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:218745683T>C	ENST00000171887.4	-	16	1444	c.992A>G	c.(991-993)gAc>gGc	p.D331G	TNS1_ENST00000310858.6_Missense_Mutation_p.D362G|TNS1_ENST00000430930.1_Missense_Mutation_p.D331G|TNS1_ENST00000419504.1_Missense_Mutation_p.D331G	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	331						cytoplasm|cytoskeleton|focal adhesion	actin binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		GATGAGGGGGTCGGAGGTGTT	0.607													12	34					0	0	1	0	0	C	218745683	T	C	218745683	3	2	81	1	0	0	0	0	1	0	0	0	16403	1667	58	3	4287	3	TNS1	2	218745683	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	1201967	218745683	24453690	2541	6157											
TNS1	7145	broad.mit.edu	37	2	218755688	218755688	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:218755688C>A	ENST00000171887.4	-	10	940	c.488G>T	c.(487-489)aGa>aTa	p.R163I	TNS1_ENST00000310858.6_Missense_Mutation_p.R194I|TNS1_ENST00000430930.1_Missense_Mutation_p.R163I|TNS1_ENST00000419504.1_Missense_Mutation_p.R163I	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	163	Phosphatase tensin-type.					cytoplasm|cytoskeleton|focal adhesion	actin binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		GACCCACCTTCTTTGGGATGG	0.557													8	43					0.00307968	0.00324365	1	1	0	A	218755688	C	A	218755688	3	1	81	1	0	0	0	0	1	0	0	0	16403	913	32	4	4815	4	TNS1	2	218755688	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	10005	218755688	24443685	2542	6158											
TMBIM1	64114	broad.mit.edu	37	2	219144799	219144799	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:219144799C>T	ENST00000444881.1	-	4	978	c.253G>A	c.(253-255)Ggg>Agg	p.G85R	TMBIM1_ENST00000258412.3_Missense_Mutation_p.G85R|TMBIM1_ENST00000445635.1_5'UTR|PNKD_ENST00000273077.4_Intron|TMBIM1_ENST00000396809.2_Missense_Mutation_p.G85R|PNKD_ENST00000472650.1_Intron			Q969X1	TMBI1_HUMAN	transmembrane BAX inhibitor motif containing 1	85						integral to membrane				NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(2)	9		Renal(207;0.0474)		Epithelial(149;8.56e-07)|all cancers(144;0.000154)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TCTCCAGGCCCGAAGCTATCA	0.587													21	43					0	0	1	0	0	T	219144799	C	T	219144799	3	4	81	1	0	0	0	0	1	0	0	0	16041	652	23	1	722	1	TMBIM1	2	219144799	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	389111	219144799	24054574	2543	6159											
CTDSP1	58190	broad.mit.edu	37	2	219268072	219268072	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:219268072C>T	ENST00000273062.2	+	6	925	c.589C>T	c.(589-591)Cga>Tga	p.R197*	CTDSP1_ENST00000488627.1_3'UTR|CTDSP1_ENST00000443891.1_Nonsense_Mutation_p.R196*	NM_021198.2|NM_182642.2	NP_067021.1|NP_872580.1	Q9GZU7	CTDS1_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase 1	197	FCP1 homology.				protein dephosphorylation|regulation of transcription from RNA polymerase II promoter	nucleus	CTD phosphatase activity|metal ion binding|protein binding			NS(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	8		Renal(207;0.0915)		Epithelial(149;9.96e-07)|all cancers(144;0.00017)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCGGTTGGGTCGAGACCTGCG	0.622													10	20					0	0	1	0	0	T	219268072	C	T	219268072	4	4	81	1	0	0	0	0	0	1	0	0	4027	876	31	1	611	1	CTDSP1	2	219268072	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	123273	219268072	23931301	2544	6160											
VIL1	7429	broad.mit.edu	37	2	219292775	219292775	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:219292775G>T	ENST00000248444.5	+	5	523	c.435G>T	c.(433-435)aaG>aaT	p.K145N	VIL1_ENST00000440053.1_Missense_Mutation_p.K145N|VIL1_ENST00000392114.2_Intron	NM_007127.2	NP_009058.2	P09327	VILI_HUMAN	villin 1	145	Core.|LPA/PIP2-binding site 2.				actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium	actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle	actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Renal(207;0.0474)		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TCAAGGGCAAGAGGAACGTGG	0.642													10	77					9.70103e-10	1.17698e-09	1	1	0	T	219292775	G	T	219292775	3	4	81	1	0	0	0	0	1	0	0	0	17224	933	33	4	449	4	VIL1	2	219292775	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	24703	219292775	23906598	2545	6161											
VIL1	7429	broad.mit.edu	37	2	219301972	219301972	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:219301972G>T	ENST00000248444.5	+	17	2185	c.2097G>T	c.(2095-2097)aaG>aaT	p.K699N	VIL1_ENST00000392114.2_Missense_Mutation_p.K388N	NM_007127.2	NP_009058.2	P09327	VILI_HUMAN	villin 1	699	Core.				actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium	actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle	actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Renal(207;0.0474)		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TTGTGGTGAAGCAGGGACACG	0.602													13	32					0.00010058	0.000110448	1	1	0	T	219301972	G	T	219301972	3	4	81	1	0	0	0	0	1	0	0	0	17224	962	34	4	2159	4	VIL1	2	219301972	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	9197	219301972	23897401	2546	6162											
RQCD1	9125	broad.mit.edu	37	2	219457400	219457400	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:219457400G>A	ENST00000273064.6	+	7	1076	c.701G>A	c.(700-702)aGa>aAa	p.R234K	RQCD1_ENST00000542068.1_Missense_Mutation_p.R234K|RQCD1_ENST00000509807.2_Missense_Mutation_p.R266K|RQCD1_ENST00000295701.5_Missense_Mutation_p.R234K	NM_005444.2	NP_005435.1	Q92600	RCD1_HUMAN	RCD1 required for cell differentiation1 homolog (S. pombe)	234					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|sex differentiation|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|prostate(3)|skin(1)	15		Renal(207;0.0915)		Epithelial(149;1.13e-06)|all cancers(144;0.000192)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CATGTAGTGAGATGTTACCTT	0.443													51	63					0	0	1	0	0	A	219457400	G	A	219457400	3	1	81	1	0	0	0	0	1	0	0	0	13722	942	33	2	727	2	RQCD1	2	219457400	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	155428	219457400	23741973	2547	6163											
ZNF142	7701	broad.mit.edu	37	2	219508820	219508820	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:219508820G>T	ENST00000411696.2	-	7	3198	c.2419C>A	c.(2419-2421)Cta>Ata	p.L807I	ZNF142_ENST00000449707.1_Missense_Mutation_p.L807I			P52746	ZN142_HUMAN	zinc finger protein 142	807					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		TGTCTCCTTAGGGCCTTGAGT	0.567													61	124					7.59065e-32	1.01335e-31	1	1	0	T	219508820	G	T	219508820	3	4	81	1	0	0	0	0	1	0	0	0	17789	991	35	4	2656	4	ZNF142	2	219508820	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	51420	219508820	23690553	2548	6164											
ZNF142	7701	broad.mit.edu	37	2	219508951	219508951	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:219508951G>T	ENST00000411696.2	-	7	3067	c.2288C>A	c.(2287-2289)tCt>tAt	p.S763Y	ZNF142_ENST00000449707.1_Missense_Mutation_p.S763Y			P52746	ZN142_HUMAN	zinc finger protein 142	763					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		GGAGGGCTCAGACACTGGCTT	0.522													47	80					5.7616e-29	7.67085e-29	1	1	0	T	219508951	G	T	219508951	3	4	81	1	0	0	0	0	1	0	0	0	17789	942	33	4	2787	4	ZNF142	2	219508951	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	131	219508951	23690422	2549	6165											
ZNF142	7701	broad.mit.edu	37	2	219509500	219509500	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:219509500T>C	ENST00000411696.2	-	7	2518	c.1739A>G	c.(1738-1740)tAc>tGc	p.Y580C	ZNF142_ENST00000449707.1_Missense_Mutation_p.Y580C			P52746	ZN142_HUMAN	zinc finger protein 142	580					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		GAAGGTGCGGTAGTCACAGAG	0.577													18	44					0	0	1	0	0	C	219509500	T	C	219509500	3	2	81	1	0	0	0	0	1	0	0	0	17789	1638	57	3	3336	3	ZNF142	2	219509500	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	549	219509500	23689873	2550	6166											
ZNF142	7701	broad.mit.edu	37	2	219521095	219521095	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:219521095G>T	ENST00000411696.2	-	3	837	c.58C>A	c.(58-60)Ctg>Atg	p.L20M	ZNF142_ENST00000449707.1_Missense_Mutation_p.L20M			P52746	ZN142_HUMAN	zinc finger protein 142	20					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		TCAGGGCACAGTCCATCCATC	0.582													7	33					0.0293803	0.0300537	1	1	0	T	219521095	G	T	219521095	3	4	81	1	0	0	0	0	1	0	0	0	17789	1020	36	4	5033	4	ZNF142	2	219521095	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	11595	219521095	23678278	2551	6167											
BCS1L	617	broad.mit.edu	37	2	219527966	219527966	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:219527966G>A	ENST00000431802.1	+	8	1816	c.1117G>A	c.(1117-1119)Gca>Aca	p.A373T	BCS1L_ENST00000439945.1_Missense_Mutation_p.A373T|BCS1L_ENST00000392110.2_Missense_Mutation_p.A373T|BCS1L_ENST00000392111.2_Missense_Mutation_p.A373T|BCS1L_ENST00000412366.1_Missense_Mutation_p.A373T|BCS1L_ENST00000359273.3_Missense_Mutation_p.A373T|BCS1L_ENST00000465706.1_3'UTR|BCS1L_ENST00000392109.1_Missense_Mutation_p.A373T			Q9Y276	BCS1_HUMAN	BC1 (ubiquinol-cytochrome c reductase) synthesis-like	373					mitochondrial respiratory chain complex I assembly|mitochondrial respiratory chain complex III assembly|mitochondrial respiratory chain complex IV assembly	integral to membrane|mitochondrial respiratory chain complex III	ATP binding|nucleoside-triphosphatase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	8		Renal(207;0.0474)		Epithelial(149;7.12e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TCCAGGGCAGGCACCTTCCTT	0.542													22	36					0	0	1	0	0	A	219527966	G	A	219527966	3	1	81	1	0	0	0	0	1	0	0	0	1387	1203	42	2	1143	2	BCS1L	2	219527966	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	6871	219527966	23671407	2552	6168											
TTLL4	9654	broad.mit.edu	37	2	219602861	219602861	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:219602861T>C	ENST00000392102.1	+	3	802	c.462T>C	c.(460-462)ccT>ccC	p.P154P	TTLL4_ENST00000442769.1_Silent_p.P154P|TTLL4_ENST00000258398.4_Silent_p.P154P|TTLL4_ENST00000457313.1_5'UTR	NM_014640.4	NP_055455.3	Q14679	TTLL4_HUMAN	tubulin tyrosine ligase-like family, member 4	154					protein polyglutamylation	cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity			endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	39		Renal(207;0.0915)		Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101)		AGAGCCTCCCTGTCAGTCTCA	0.542													12	111					0	0	1	0	0	C	219602861	T	C	219602861	2	2	81	1	0	0	0	0	0	0	0	1	16791	1567	55	3		3	TTLL4	2	219602861	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	74895	219602861	23596512	2553	6169											
CYP27A1	1593	broad.mit.edu	37	2	219679381	219679381	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:219679381G>A	ENST00000258415.4	+	8	1804	c.1377G>A	c.(1375-1377)agG>agA	p.R459R		NM_000784.3	NP_000775.1	Q02318	CP27A_HUMAN	cytochrome P450, family 27, subfamily A, polypeptide 1	459					bile acid biosynthetic process|xenobiotic metabolic process	mitochondrial matrix	cholestanetriol 26-monooxygenase activity|electron carrier activity|heme binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(3)|urinary_tract(1)	26		Renal(207;0.0474)		Epithelial(149;9.48e-07)|all cancers(144;0.000171)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00981)	Cholecalciferol(DB00169)	CTACCCCCAGGATCCAGCACC	0.632													13	26					0	0	1	0	0	A	219679381	G	A	219679381	2	1	81	1	0	0	0	0	0	0	0	1	4181	1165	41	2		2	CYP27A1	2	219679381	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	76520	219679381	23519992	2554	6170											
CYP27A1	1593	broad.mit.edu	37	2	219679440	219679440	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:219679440G>A	ENST00000258415.4	+	8	1863	c.1436G>A	c.(1435-1437)cGc>cAc	p.R479H		NM_000784.3	NP_000775.1	Q02318	CP27A_HUMAN	cytochrome P450, family 27, subfamily A, polypeptide 1	479			R -> C (in CTX).		bile acid biosynthetic process|xenobiotic metabolic process	mitochondrial matrix	cholestanetriol 26-monooxygenase activity|electron carrier activity|heme binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(3)|urinary_tract(1)	26		Renal(207;0.0474)		Epithelial(149;9.48e-07)|all cancers(144;0.000171)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00981)	Cholecalciferol(DB00169)	TGCCTGGGCCGCAGGATTGCA	0.652													12	19					0	0	1	0	0	A	219679440	G	A	219679440	3	1	81	1	0	0	0	0	1	0	0	0	4181	1087	38	1	1466	1	CYP27A1	2	219679440	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	59	219679440	23519933	2555	6171											
PRKAG3	53632	broad.mit.edu	37	2	219692321	219692321	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:219692321C>T	ENST00000392098.3	-	7	838	c.806G>A	c.(805-807)tGg>tAg	p.W269*	PRKAG3_ENST00000529249.1_Silent_p.L284L|PRKAG3_ENST00000439262.2_Silent_p.L259L|PRKAG3_ENST00000545803.1_Silent_p.L100L			Q9UGI9	AAKG3_HUMAN	protein kinase, AMP-activated, gamma 3 non-catalytic subunit	0					cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|intracellular protein kinase cascade|regulation of fatty acid oxidation	cytosol	AMP-activated protein kinase activity|protein kinase binding			large_intestine(7)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20		Renal(207;0.0474)		Epithelial(149;4.35e-07)|all cancers(144;8.96e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGATGGAGACCAGAGGCTTGA	0.582													32	56					0	0	1	0	0	T	219692321	C	T	219692321	4	4	81	1	0	0	0	0	0	1	0	0	12554	581	21	2	641	2	PRKAG3	2	219692321	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	12881	219692321	23507052	2556	6172											
WNT10A	80326	broad.mit.edu	37	2	219754749	219754749	+	Silent	SNP	C	C	T	rs148979463		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:219754749C>T	ENST00000258411.3	+	3	1053	c.420C>T	c.(418-420)ggC>ggT	p.G140G	WNT10A_ENST00000483911.1_3'UTR	NM_025216.2	NP_079492.2	Q9GZT5	WN10A_HUMAN	wingless-type MMTV integration site family, member 10A	140					anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to transforming growth factor beta stimulus|female gonad development|hair follicle morphogenesis|odontogenesis|regulation of odontogenesis of dentine-containing tooth|sebaceous gland development|skin development|tongue development|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity			breast(1)|cervix(1)|endometrium(2)|lung(6)|skin(2)	12		Renal(207;0.0474)		Epithelial(149;4.26e-07)|all cancers(144;8.8e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CAGCAGCTGGCGTGGTGCACG	0.617													4	58					0	0	1	0	0	T	219754749	C	T	219754749	2	4	81	1	0	0	0	0	0	0	0	1	17442	755	27	1		1	WNT10A	2	219754749	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	62428	219754749	23444624	2557	6173											
CCDC108	255101	broad.mit.edu	37	2	219884251	219884251	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:219884251G>T	ENST00000341552.5	-	20	3533	c.3450C>A	c.(3448-3450)acC>acA	p.T1150T	CCDC108_ENST00000453220.1_Silent_p.T1150T|CCDC108_ENST00000441968.1_Silent_p.T1150T	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	1150						integral to membrane	structural molecule activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCACCTTGTAGGTGAGCTCAC	0.622													3	24					0.004672	0.00489345	1	1	0	T	219884251	G	T	219884251	2	4	81	1	0	0	0	0	0	0	0	1	2761	987	35	4		4	CCDC108	2	219884251	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	129502	219884251	23315122	2558	6174											
FAM134A	79137	broad.mit.edu	37	2	220045793	220045793	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:220045793T>C	ENST00000430297.2	+	6	786	c.650T>C	c.(649-651)aTc>aCc	p.I217T		NM_024293.4	NP_077269.3	Q8NC44	F134A_HUMAN	family with sequence similarity 134, member A	217						endoplasmic reticulum|integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)	19		Renal(207;0.0915)		Epithelial(149;8.92e-07)|all cancers(144;0.000151)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GTGTTGAGTATCCTGCTGTGG	0.512													11	127					0	0	1	0	0	C	220045793	T	C	220045793	3	2	81	1	0	0	0	0	1	0	0	0	5476	1435	50	3	672	3	FAM134A	2	220045793	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	161542	220045793	23153580	2559	6175											
ZFAND2B	130617	broad.mit.edu	37	2	220073159	220073159	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:220073159G>A	ENST00000409097.1	+	7	596	c.539G>A	c.(538-540)cGa>cAa	p.R180Q	ZFAND2B_ENST00000409206.1_3'UTR|ZFAND2B_ENST00000409336.1_Missense_Mutation_p.R180Q|ZFAND2B_ENST00000409594.1_3'UTR|ZFAND2B_ENST00000444522.2_Missense_Mutation_p.R180Q|ZFAND2B_ENST00000289528.5_Missense_Mutation_p.R180Q|ZFAND2B_ENST00000409217.1_Missense_Mutation_p.R180Q			Q8WV99	ZFN2B_HUMAN	zinc finger, AN1-type domain 2B	180						endoplasmic reticulum	protein binding|zinc ion binding			endometrium(2)|kidney(4)|lung(4)|upper_aerodigestive_tract(1)	11		Renal(207;0.0915)		Epithelial(149;1.16e-06)|all cancers(144;0.000191)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCCACAACCCGATCTCCGTCC	0.562													20	54					0	0	1	0	0	A	220073159	G	A	220073159	3	1	81	1	0	0	0	0	1	0	0	0	17686	1058	37	1	561	1	ZFAND2B	2	220073159	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	27366	220073159	23126214	2560	6176											
ABCB6	10058	broad.mit.edu	37	2	220078891	220078891	+	Silent	SNP	G	G	A	rs144749234		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:220078891G>A	ENST00000265316.3	-	8	1720	c.1404C>T	c.(1402-1404)gcC>gcT	p.A468A	ABCB6_ENST00000439002.2_Silent_p.A422A	NM_005689.2	NP_005680.1	Q9NP58	ABCB6_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 6	468	ABC transmembrane type-1.				cadmium ion transmembrane transport|cellular iron ion homeostasis|detoxification of cadmium ion|porphyrin biosynthetic process	ATP-binding cassette (ABC) transporter complex|Golgi apparatus|integral to mitochondrial outer membrane|plasma membrane|vacuolar membrane	ATP binding|efflux transmembrane transporter activity|heme binding|heme-transporting ATPase activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	34		Renal(207;0.0474)		Epithelial(149;1.22e-06)|all cancers(144;0.000201)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CGTAACTCTCGGCGTTGTAAT	0.488													28	58					0	0	1	0	0	A	220078891	G	A	220078891	2	1	81	1	0	0	0	0	0	0	0	1	45	1103	39	1		1	ABCB6	2	220078891	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	5732	220078891	23120482	2561	6177											
ATG9A	79065	broad.mit.edu	37	2	220089566	220089566	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:220089566G>A	ENST00000409618.1	-	8	966	c.527C>T	c.(526-528)cCg>cTg	p.P176L	ATG9A_ENST00000396761.2_Missense_Mutation_p.P176L|ATG9A_ENST00000409422.1_Missense_Mutation_p.P115L|ATG9A_ENST00000361242.4_Missense_Mutation_p.P176L			Q7Z3C6	ATG9A_HUMAN	autophagy related 9A	176					autophagic vacuole assembly|protein transport	autophagic vacuole membrane|cytoplasmic vesicle|Golgi apparatus|integral to membrane|late endosome membrane				endometrium(2)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(1)	13		Renal(207;0.0474)		Epithelial(149;1.37e-06)|all cancers(144;0.000222)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CGTGCAATACGGAAGGGCAGA	0.567													18	25					0	0	1	0	0	A	220089566	G	A	220089566	3	1	81	1	0	0	0	0	1	0	0	0	1101	1116	39	1	2028	1	ATG9A	2	220089566	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	10675	220089566	23109807	2562	6178											
STK16	8576	broad.mit.edu	37	2	220111265	220111265	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:220111265T>C	ENST00000409260.1	+	2	216	c.108T>C	c.(106-108)ctT>ctC	p.L36L	STK16_ENST00000409743.1_Intron|STK16_ENST00000486813.1_Intron|STK16_ENST00000396738.2_Intron|STK16_ENST00000409516.3_Intron|STK16_ENST00000409638.3_Intron			O75716	STK16_HUMAN	serine/threonine kinase 16	29	Protein kinase.				protein complex assembly	membrane	ATP binding|protein binding|protein serine/threonine kinase activity			skin(1)	1		Renal(207;0.0474)		Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGCCACATCTTGGGAAGGTTT	0.473													4	2					0	0	1	0	0	C	220111265	T	C	220111265	2	2	81	1	0	0	0	0	0	0	0	1	15345	1827	63	3		3	STK16	2	220111265	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	21699	220111265	23088108	2563	6179											
DNAJB2	3300	broad.mit.edu	37	2	220149426	220149426	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:220149426C>T	ENST00000336576.5	+	9	980	c.692C>T	c.(691-693)tCt>tTt	p.S231F	DNAJB2_ENST00000392086.4_Missense_Mutation_p.S231F|DNAJB2_ENST00000463463.1_3'UTR	NM_006736.5	NP_006727.2	P25686	DNJB2_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 2	231					ER-associated protein catabolic process|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of inclusion body assembly|negative regulation of protein deubiquitination|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein folding|response to unfolded protein	inclusion body	heat shock protein binding|Hsp70 protein binding|polyubiquitin binding|proteasome binding|protein binding|unfolded protein binding			endometrium(4)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14		Renal(207;0.0474)		Epithelial(149;1.97e-06)|all cancers(144;0.00028)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ACTTCCAGGTCTGGGGGCACT	0.637													16	23					0	0	1	0	0	T	220149426	C	T	220149426	3	4	81	1	0	0	0	0	1	0	0	0	4647	913	32	2	722	2	DNAJB2	2	220149426	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	38161	220149426	23049947	2564	6180											
PTPRN	5798	broad.mit.edu	37	2	220164440	220164440	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:220164440C>T	ENST00000295718.2	-	10	1745	c.1505G>A	c.(1504-1506)gGc>gAc	p.G502D	PTPRN_ENST00000409251.3_Intron|AC114803.3_ENST00000417355.1_RNA|PTPRN_ENST00000423636.2_Missense_Mutation_p.G412D	NM_002846.3	NP_002837.1	Q16849	PTPRN_HUMAN	protein tyrosine phosphatase, receptor type, N	502					response to reactive oxygen species	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)		GATGAAGCTGCCTGAGGACAT	0.597													29	51					0	0	1	0	0	T	220164440	C	T	220164440	3	4	81	1	0	0	0	0	1	0	0	0	12859	739	26	2	1490	2	PTPRN	2	220164440	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	15014	220164440	23034933	2565	6181											
DNPEP	23549	broad.mit.edu	37	2	220251081	220251081	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:220251081T>C	ENST00000273075.4	-	5	606	c.386A>G	c.(385-387)gAg>gGg	p.E129G	DNPEP_ENST00000373972.1_Missense_Mutation_p.E54G|DNPEP_ENST00000523282.1_Missense_Mutation_p.E137G	NM_012100.2	NP_036232	Q9ULA0	DNPEP_HUMAN	aspartyl aminopeptidase	119					peptide metabolic process|proteolysis	cytoplasm	aminopeptidase activity|metallopeptidase activity|protein binding|zinc ion binding			breast(3)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Renal(207;0.0474)		Epithelial(149;1.09e-06)|all cancers(144;0.000179)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	L-Glutamic Acid(DB00142)	ACCATAGGTCTCCACACCGAC	0.572													8	84					0	0	1	0	0	C	220251081	T	C	220251081	3	2	81	1	0	0	0	0	1	0	0	0	4706	1551	54	3	1115	3	DNPEP	2	220251081	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	86641	220251081	22948292	2566	6182											
DNPEP	23549	broad.mit.edu	37	2	220251124	220251124	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:220251124G>A	ENST00000273075.4	-	5	563	c.343C>T	c.(343-345)Cgg>Tgg	p.R115W	DNPEP_ENST00000373972.1_Missense_Mutation_p.R40W|DNPEP_ENST00000523282.1_Missense_Mutation_p.R123W	NM_012100.2	NP_036232	Q9ULA0	DNPEP_HUMAN	aspartyl aminopeptidase	105					peptide metabolic process|proteolysis	cytoplasm	aminopeptidase activity|metallopeptidase activity|protein binding|zinc ion binding			breast(3)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Renal(207;0.0474)		Epithelial(149;1.09e-06)|all cancers(144;0.000179)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	L-Glutamic Acid(DB00142)	CGGCGAGACCGACGTTTCACC	0.527													31	46					0	0	1	0	0	A	220251124	G	A	220251124	3	1	81	1	0	0	0	0	1	0	0	0	4706	1057	37	1	1158	1	DNPEP	2	220251124	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	43	220251124	22948249	2567	6183											
SPEG	10290	broad.mit.edu	37	2	220309641	220309641	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:220309641G>A	ENST00000312358.7	+	3	705	c.573G>A	c.(571-573)ggG>ggA	p.G191G	SPEG_ENST00000396698.1_Silent_p.G87G|SPEG_ENST00000396695.2_5'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	191					muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		GGGGCAGCGGGCAGACGGTCC	0.716													18	28					0	0	1	0	0	A	220309641	G	A	220309641	2	1	81	1	0	0	0	0	0	0	0	1	15092	1190	42	2		2	SPEG	2	220309641	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	58517	220309641	22889732	2568	6184											
SPEG	10290	broad.mit.edu	37	2	220338574	220338574	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:220338574G>A	ENST00000312358.7	+	18	4528	c.4396G>A	c.(4396-4398)Gcc>Acc	p.A1466T	SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	1466	Ig-like 7.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		CACCTGCACCGCCCGAAACCG	0.647													8	87					0	0	1	0	0	A	220338574	G	A	220338574	3	1	81	1	0	0	0	0	1	0	0	0	15092	1087	38	1	4478	1	SPEG	2	220338574	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	28933	220338574	22860799	2569	6185											
SPEG	10290	broad.mit.edu	37	2	220349114	220349114	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:220349114C>T	ENST00000312358.7	+	30	7061	c.6929C>T	c.(6928-6930)cCc>cTc	p.P2310L	AC053503.11_ENST00000429882.1_RNA|SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	2310	Pro-rich.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		GCCCGAGTTCCCACGGTGCCC	0.682													6	7					0	0	1	0	0	T	220349114	C	T	220349114	3	4	81	1	0	0	0	0	1	0	0	0	15092	623	22	2	7059	2	SPEG	2	220349114	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	10540	220349114	22850259	2570	6186											
GMPPA	29926	broad.mit.edu	37	2	220366664	220366664	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:220366664G>A	ENST00000358215.3	+	5	703	c.334G>A	c.(334-336)Gtg>Atg	p.V112M	AC053503.11_ENST00000429882.1_RNA|GMPPA_ENST00000373917.3_Missense_Mutation_p.V112M|GMPPA_ENST00000373908.1_Missense_Mutation_p.V112M|GMPPA_ENST00000313597.5_Missense_Mutation_p.V112M|GMPPA_ENST00000341142.3_Missense_Mutation_p.V112M	NM_205847.2	NP_995319.1	Q96IJ6	GMPPA_HUMAN	GDP-mannose pyrophosphorylase A	112					dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine		GTP binding|mannose-1-phosphate guanylyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	20		Renal(207;0.0183)		Epithelial(149;3.82e-10)|all cancers(144;6.25e-08)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00807)|READ - Rectum adenocarcinoma(5;0.148)		GGCATTCTTCGTGCTCAATGC	0.577													52	93					0	0	1	0	0	A	220366664	G	A	220366664	3	1	81	1	0	0	0	0	1	0	0	0	6536	1145	40	1	348	1	GMPPA	2	220366664	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	17550	220366664	22832709	2571	6187											
CHPF	79586	broad.mit.edu	37	2	220404123	220404123	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:220404123C>T	ENST00000243776.6	-	4	2558	c.2310G>A	c.(2308-2310)gaG>gaA	p.E770E	CHPF_ENST00000535926.1_Silent_p.E608E	NM_024536.5	NP_078812	Q8IZ52	CHSS2_HUMAN	chondroitin polymerizing factor	770						Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)	21		Renal(207;0.0183)		Epithelial(149;3.02e-08)|all cancers(144;3.41e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		TGTTGCCCTGCTCCTGTTCAA	0.667													10	12					0	0	1	0	0	T	220404123	C	T	220404123	2	4	81	1	0	0	0	0	0	0	0	1	3390	796	28	2		2	CHPF	2	220404123	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	37459	220404123	22795250	2572	6188											
TMEM198	130612	broad.mit.edu	37	2	220412624	220412624	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:220412624C>T	ENST00000344458.2	+	4	1148	c.563C>T	c.(562-564)gCt>gTt	p.A188V	TMEM198_ENST00000373883.3_Missense_Mutation_p.A188V			Q66K66	TM198_HUMAN	transmembrane protein 198	188	Leu-rich.					integral to membrane				NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	16		Renal(207;0.0376)		Epithelial(149;6.49e-08)|all cancers(144;6.45e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		GCCACTGCCGCTGACTACTTC	0.711													4	6					0	0	1	0	0	T	220412624	C	T	220412624	3	4	81	1	0	0	0	0	1	0	0	0	16179	797	28	2	569	2	TMEM198	2	220412624	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	8501	220412624	22786749	2573	6189											
OBSL1	23363	broad.mit.edu	37	2	220422967	220422967	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:220422967G>A	ENST00000404537.1	-	10	3497	c.3441C>T	c.(3439-3441)gaC>gaT	p.D1147D	OBSL1_ENST00000603926.1_Silent_p.D1147D|OBSL1_ENST00000265318.4_Intron|OBSL1_ENST00000373876.1_Silent_p.D1147D|OBSL1_ENST00000265317.5_Silent_p.D138D	NM_015311.2	NP_056126.1	O75147	OBSL1_HUMAN	obscurin-like 1	1147	Ig-like 9.				cardiac myofibril assembly	intercalated disc|M band|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity						Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		ACTCCCCGGCGTCCTCAGGCT	0.672													7	7					0	0	1	0	0	A	220422967	G	A	220422967	2	1	81	1	0	0	0	0	0	0	0	1	10861	1136	40	1		1	OBSL1	2	220422967	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	10343	220422967	22776406	2574	6190											
SLC4A3	6508	broad.mit.edu	37	2	220493264	220493264	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:220493264C>T	ENST00000358055.3	+	3	701	c.189C>T	c.(187-189)agC>agT	p.S63S	SLC4A3_ENST00000317151.3_Silent_p.S63S|SLC4A3_ENST00000373762.3_Silent_p.S63S|SLC4A3_ENST00000273063.6_Silent_p.S63S|SLC4A3_ENST00000497589.1_3'UTR|SLC4A3_ENST00000373760.2_Silent_p.S63S			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3	63					bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGAAGCCCAGCCGCAGCTACA	0.657													4	19					0	0	1	0	0	T	220493264	C	T	220493264	2	4	81	1	0	0	0	0	0	0	0	1	14710	738	26	2		2	SLC4A3	2	220493264	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	70297	220493264	22706109	2575	6191											
SLC4A3	6508	broad.mit.edu	37	2	220497697	220497697	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:220497697G>A	ENST00000358055.3	+	9	1755	c.1243G>A	c.(1243-1245)Gcc>Acc	p.A415T	SLC4A3_ENST00000317151.3_Missense_Mutation_p.A415T|SLC4A3_ENST00000373762.3_Missense_Mutation_p.A442T|SLC4A3_ENST00000273063.6_Missense_Mutation_p.A442T|SLC4A3_ENST00000373760.2_Missense_Mutation_p.A415T			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3	415					bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGAGGACAGGGCCAGCGTCCT	0.637													16	23					0	0	1	0	0	A	220497697	G	A	220497697	3	1	81	1	0	0	0	0	1	0	0	0	14710	1203	42	2	1354	2	SLC4A3	2	220497697	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	4433	220497697	22701676	2576	6192											
SLC4A3	6508	broad.mit.edu	37	2	220498005	220498005	+	Silent	SNP	C	C	T	rs149397338	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:220498005C>T	ENST00000358055.3	+	10	1799	c.1287C>T	c.(1285-1287)aaC>aaT	p.N429N	SLC4A3_ENST00000317151.3_Silent_p.N429N|SLC4A3_ENST00000373762.3_Silent_p.N456N|SLC4A3_ENST00000273063.6_Silent_p.N456N|SLC4A3_ENST00000373760.2_Silent_p.N429N			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3	429					bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCCATCCCAACGATGACAAGG	0.582													27	44					0	0	1	0	0	T	220498005	C	T	220498005	2	4	81	1	0	0	0	0	0	0	0	1	14710	535	19	1		1	SLC4A3	2	220498005	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	308	220498005	22701368	2577	6193											
SLC4A3	6508	broad.mit.edu	37	2	220504340	220504340	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:220504340G>A	ENST00000358055.3	+	20	3672	c.3160G>A	c.(3160-3162)Gtc>Atc	p.V1054I	SLC4A3_ENST00000317151.3_Missense_Mutation_p.V1054I|SLC4A3_ENST00000373762.3_Missense_Mutation_p.V1081I|SLC4A3_ENST00000273063.6_Missense_Mutation_p.V1081I|SLC4A3_ENST00000373760.2_Missense_Mutation_p.V1054I			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3	1054	Membrane (anion exchange).			V -> I (in Ref. 3; AAN34939).	bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity	p.V1081I(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGTCCGCTCCGTCACCCATGT	0.652													25	28					0	0	1	0	0	A	220504340	G	A	220504340	3	1	81	1	0	0	0	0	1	0	0	0	14710	1145	40	1	3315	1	SLC4A3	2	220504340	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	6335	220504340	22695033	2578	6194											
EPHA4	2043	broad.mit.edu	37	2	222294740	222294740	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:222294740G>A	ENST00000281821.2	-	15	2669	c.2628C>T	c.(2626-2628)aaC>aaT	p.N876N	EPHA4_ENST00000392071.4_Silent_p.N825N|EPHA4_ENST00000409938.1_Silent_p.N876N|EPHA4_ENST00000409854.1_Silent_p.N876N	NM_004438.3	NP_004429.1	P54764	EPHA4_HUMAN	EPH receptor A4	876	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		TGTCCAACATGTTGACAATCT	0.522													9	111					0	0	1	0	0	A	222294740	G	A	222294740	2	1	81	1	0	0	0	0	0	0	0	1	5197	1368	48	2		2	EPHA4	2	222294740	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1790400	222294740	20904633	2579	6195											
EPHA4	2043	broad.mit.edu	37	2	222321357	222321357	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:222321357G>T	ENST00000281821.2	-	7	1620	c.1579C>A	c.(1579-1581)Ccc>Acc	p.P527T	EPHA4_ENST00000392071.4_Missense_Mutation_p.P476T|EPHA4_ENST00000409938.1_Missense_Mutation_p.P527T|EPHA4_ENST00000409854.1_Missense_Mutation_p.P527T	NM_004438.3	NP_004429.1	P54764	EPHA4_HUMAN	EPH receptor A4	527	Fibronectin type-III 2.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		ACCTCCAAGGGCTCACTGAAG	0.483													16	35					2.35188e-11	2.91332e-11	1	1	0	T	222321357	G	T	222321357	3	4	81	1	0	0	0	0	1	0	0	0	5197	1203	42	5	1425	5	EPHA4	2	222321357	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	26617	222321357	20878016	2580	6196											
EPHA4	2043	broad.mit.edu	37	2	222347170	222347170	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:222347170G>A	ENST00000281821.2	-	5	1261	c.1220C>T	c.(1219-1221)aCc>aTc	p.T407I	EPHA4_ENST00000392071.4_Missense_Mutation_p.T356I|EPHA4_ENST00000409938.1_Missense_Mutation_p.T407I|EPHA4_ENST00000409854.1_Missense_Mutation_p.T407I	NM_004438.3	NP_004429.1	P54764	EPHA4_HUMAN	EPH receptor A4	407	Fibronectin type-III 1.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		GGTGTAATTGGTATGAGCTAG	0.507													108	196					0	0	1	0	0	A	222347170	G	A	222347170	3	1	81	1	0	0	0	0	1	0	0	0	5197	1261	44	2	1792	2	EPHA4	2	222347170	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	25813	222347170	20852203	2581	6197											
EPHA4	2043	broad.mit.edu	37	2	222365844	222365844	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:222365844G>A	ENST00000281821.2	-	4	913	c.872C>T	c.(871-873)gCc>gTc	p.A291V	EPHA4_ENST00000392071.4_Missense_Mutation_p.A240V|EPHA4_ENST00000409938.1_Missense_Mutation_p.A291V|EPHA4_ENST00000409854.1_Missense_Mutation_p.A291V	NM_004438.3	NP_004429.1	P54764	EPHA4_HUMAN	EPH receptor A4	291	Cys-rich.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		TGGGCACTTGGCACAGGTGGC	0.507													20	46					0	0	1	0	0	A	222365844	G	A	222365844	3	1	81	1	0	0	0	0	1	0	0	0	5197	1203	42	2	2144	2	EPHA4	2	222365844	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	18674	222365844	20833529	2582	6198											
PAX3	5077	broad.mit.edu	37	2	223160331	223160331	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:223160331T>C	ENST00000350526.4	-	3	503	c.367A>G	c.(367-369)Aga>Gga	p.R123G	PAX3_ENST00000409551.3_Missense_Mutation_p.R122G|PAX3_ENST00000392070.2_Missense_Mutation_p.R123G|PAX3_ENST00000258387.5_Missense_Mutation_p.R123G|PAX3_ENST00000344493.4_Missense_Mutation_p.R123G|PAX3_ENST00000336840.6_Missense_Mutation_p.R123G|PAX3_ENST00000392069.2_Missense_Mutation_p.R123G|PAX3_ENST00000409828.3_Missense_Mutation_p.R123G	NM_181457.3	NP_852122.1	P23760	PAX3_HUMAN	paired box 3	123	Paired.				apoptosis|organ morphogenesis|positive regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		PAX3/NCOA2(4)|PAX3/NCOA1(8)|PAX3/FOXO1(749)	NS(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(13)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	38		Renal(207;0.0183)		Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGGTTCTCTCTTTTGTATTCC	0.542			T	"FOXO1A, NCOA1"	alveolar rhabdomyosarcoma		Waardenburg syndrome; craniofacial-deafness-hand syndrome						19	41					0	0	1	0	0	C	223160331	T	C	223160331	3	2	81	1	0	0	0	0	1	0	0	0	11527	1617	56	3	1311	3	PAX3	2	223160331	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	794487	223160331	20039042	2583	6199											
SGPP2	130367	broad.mit.edu	37	2	223423168	223423168	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:223423168G>A	ENST00000321276.7	+	5	837	c.751G>A	c.(751-753)Gtg>Atg	p.V251M		NM_152386.2	NP_689599.2	Q8IWX5	SGPP2_HUMAN	sphingosine-1-phosphate phosphatase 2	251					sphingosine metabolic process	endoplasmic reticulum membrane|integral to membrane	dihydrosphingosine-1-phosphate phosphatase activity|sphingosine-1-phosphate phosphatase activity	p.V251M(1)		central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	18		Renal(207;0.0376)		Epithelial(121;2.08e-09)|all cancers(144;9.25e-07)|LUSC - Lung squamous cell carcinoma(224;0.011)|Lung(261;0.0143)		CCTCTTCCCCGTGTGTGTCAT	0.587													24	56					0	0	1	0	0	A	223423168	G	A	223423168	3	1	81	1	0	0	0	0	1	0	0	0	14274	1145	40	1	769	1	SGPP2	2	223423168	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	262837	223423168	19776205	2584	6200											
MOGAT1	116255	broad.mit.edu	37	2	223554072	223554073	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:223554072_223554073insT	ENST00000446656.3	+	3	362_363	c.362_363insT	c.(361-366)aattttfs	p.NF121fs		NM_058165.2	NP_477513.2	Q96PD6	MOGT1_HUMAN	monoacylglycerol O-acyltransferase 1	121					glycerol metabolic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity			breast(1)|cervix(1)|endometrium(1)|lung(5)|urinary_tract(1)	9		Renal(207;0.0183)		Epithelial(121;4.13e-10)|all cancers(144;2.06e-07)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0105)		GCCTTTGGGAATTTTTCTGTAA	0.406													24	39	---	---	---	---						T	223554073	-	T	223554072	7	5	81	1	0	1	1	0	0	0	0	0	9743	101	4	0	372	0	MOGAT1	2	223554072	Frame_Shift_Ins	INS	-	TCGA-DU-6392-01A-11D-1705-08	130904	223554072	19645301	2585	6201											
MOGAT1	116255	broad.mit.edu	37	2	223554130	223554130	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:223554130T>C	ENST00000446656.3	+	3	420	c.420T>C	c.(418-420)ctT>ctC	p.L140L		NM_058165.2	NP_477513.2	Q96PD6	MOGT1_HUMAN	monoacylglycerol O-acyltransferase 1	140					glycerol metabolic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity			breast(1)|cervix(1)|endometrium(1)|lung(5)|urinary_tract(1)	9		Renal(207;0.0183)		Epithelial(121;4.13e-10)|all cancers(144;2.06e-07)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0105)		CTTCATATCTTCACGTGCTGC	0.443													48	53					0	0	1	0	0	C	223554130	T	C	223554130	2	2	81	1	0	0	0	0	0	0	0	1	9743	1770	62	3		3	MOGAT1	2	223554130	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	58	223554130	19645243	2586	6202											
ACSL3	2181	broad.mit.edu	37	2	223787865	223787865	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:223787865C>T	ENST00000357430.3	+	10	1681	c.1150C>T	c.(1150-1152)Ccg>Tcg	p.P384S	ACSL3_ENST00000392066.3_Missense_Mutation_p.P384S	NM_004457.3	NP_004448.2	O95573	ACSL3_HUMAN	acyl-CoA synthetase long-chain family member 3	384					long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|fatty-acyl-CoA synthase activity|long-chain fatty acid-CoA ligase activity|protein binding			cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)|skin(2)	22		Renal(207;0.0183)		Epithelial(121;1.28e-10)|all cancers(144;8.06e-08)|Lung(261;0.00834)|LUSC - Lung squamous cell carcinoma(224;0.00864)	Icosapent(DB00159)	GGCAGCAGTTCCGGTAAGAAG	0.333			T	ETV1	prostate								15	19					0	0	1	0	0	T	223787865	C	T	223787865	3	4	81	1	0	0	0	0	1	0	0	0	178	855	30	2	1176	2	ACSL3	2	223787865	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	233735	223787865	19411508	2587	6203											
ACSL3	2181	broad.mit.edu	37	2	223806295	223806295	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:223806295G>T	ENST00000357430.3	+	17	2617	c.2086G>T	c.(2086-2088)Gat>Tat	p.D696Y	ACSL3_ENST00000392066.3_Missense_Mutation_p.D696Y	NM_004457.3	NP_004448.2	O95573	ACSL3_HUMAN	acyl-CoA synthetase long-chain family member 3	696					long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|fatty-acyl-CoA synthase activity|long-chain fatty acid-CoA ligase activity|protein binding			cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)|skin(2)	22		Renal(207;0.0183)		Epithelial(121;1.28e-10)|all cancers(144;8.06e-08)|Lung(261;0.00834)|LUSC - Lung squamous cell carcinoma(224;0.00864)	Icosapent(DB00159)	TCTGGTGACAGATGCCTTCAA	0.388			T	ETV1	prostate								11	82					3.86212e-05	4.27865e-05	1	1	0	T	223806295	G	T	223806295	3	4	81	1	0	0	0	0	1	0	0	0	178	942	33	4	2140	4	ACSL3	2	223806295	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	18430	223806295	19393078	2588	6204											
WDFY1	57590	broad.mit.edu	37	2	224743434	224743434	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:224743434G>A	ENST00000233055.4	-	12	1289	c.1187C>T	c.(1186-1188)aCa>aTa	p.T396I		NM_020830.3	NP_065881.1	Q8IWB7	WDFY1_HUMAN	WD repeat and FYVE domain containing 1	396						cytosol|early endosome|nucleus	1-phosphatidylinositol binding|zinc ion binding			NS(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)	18		all_lung(227;0.00682)|Lung NSC(271;0.00859)|Renal(207;0.0112)|all_hematologic(139;0.189)		Epithelial(121;5.34e-10)|all cancers(144;1.67e-07)|Lung(261;0.00807)|LUSC - Lung squamous cell carcinoma(224;0.00843)		CACCACAGGTGTCATGTCCCA	0.517													8	13					0	0	1	0	0	A	224743434	G	A	224743434	3	1	81	1	0	0	0	0	1	0	0	0	17328	1377	48	2	49	2	WDFY1	2	224743434	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	937139	224743434	18455939	2589	6205											
WDFY1	57590	broad.mit.edu	37	2	224759041	224759041	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:224759041C>T	ENST00000233055.4	-	8	843	c.741G>A	c.(739-741)tcG>tcA	p.S247S		NM_020830.3	NP_065881.1	Q8IWB7	WDFY1_HUMAN	WD repeat and FYVE domain containing 1	247						cytosol|early endosome|nucleus	1-phosphatidylinositol binding|zinc ion binding			NS(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)	18		all_lung(227;0.00682)|Lung NSC(271;0.00859)|Renal(207;0.0112)|all_hematologic(139;0.189)		Epithelial(121;5.34e-10)|all cancers(144;1.67e-07)|Lung(261;0.00807)|LUSC - Lung squamous cell carcinoma(224;0.00843)		GGTAGCACAGCGACTGCACCT	0.507													9	27					0	0	1	0	0	T	224759041	C	T	224759041	2	4	81	1	0	0	0	0	0	0	0	1	17328	755	27	1		1	WDFY1	2	224759041	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	15607	224759041	18440332	2590	6206											
WDFY1	57590	broad.mit.edu	37	2	224763764	224763764	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:224763764G>A	ENST00000233055.4	-	6	611	c.509C>T	c.(508-510)gCt>gTt	p.A170V		NM_020830.3	NP_065881.1	Q8IWB7	WDFY1_HUMAN	WD repeat and FYVE domain containing 1	170						cytosol|early endosome|nucleus	1-phosphatidylinositol binding|zinc ion binding			NS(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)	18		all_lung(227;0.00682)|Lung NSC(271;0.00859)|Renal(207;0.0112)|all_hematologic(139;0.189)		Epithelial(121;5.34e-10)|all cancers(144;1.67e-07)|Lung(261;0.00807)|LUSC - Lung squamous cell carcinoma(224;0.00843)		ACCAACGAAAGCATACTGAGT	0.433													8	55					0	0	1	0	0	A	224763764	G	A	224763764	3	1	81	1	0	0	0	0	1	0	0	0	17328	971	34	2	751	2	WDFY1	2	224763764	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	4723	224763764	18435609	2591	6207											
CUL3	8452	broad.mit.edu	37	2	225365132	225365132	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:225365132G>A	ENST00000264414.4	-	11	1896	c.1558C>T	c.(1558-1560)Cca>Tca	p.P520S	CUL3_ENST00000409777.1_Missense_Mutation_p.P496S|CUL3_ENST00000344951.4_Missense_Mutation_p.P454S|CUL3_ENST00000409096.1_Missense_Mutation_p.P496S	NM_003590.4	NP_003581.1	Q13618	CUL3_HUMAN	cullin 3	520					cell cycle arrest|cell migration|cyclin catabolic process|cytokinesis|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|mitotic anaphase|negative regulation of Rho protein signal transduction|positive regulation of cell proliferation|protein ubiquitination|stress fiber assembly	Cul3-RING ubiquitin ligase complex|Golgi apparatus|nucleus|polar microtubule	ubiquitin protein ligase binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	46		all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138)		Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902)		TTGCACTTTGGTGTGGCTGAC	0.428													44	78					0	0	1	0	0	A	225365132	G	A	225365132	3	1	81	1	0	0	0	0	1	0	0	0	4079	1261	44	2	772	2	CUL3	2	225365132	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	601368	225365132	17834241	2592	6208											
DOCK10	55619	broad.mit.edu	37	2	225727444	225727444	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:225727444T>G	ENST00000409592.3	-	14	1717	c.1604A>C	c.(1603-1605)aAa>aCa	p.K535T	DOCK10_ENST00000258390.7_Missense_Mutation_p.K541T			Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	541							GTP binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		TCTGTTGGATTTTAGTATCTT	0.303													4	26					0	0	1	0	0	G	225727444	T	G	225727444	3	3	81	1	0	0	0	0	1	0	0	0	4712	1841	64	5	5110	5	DOCK10	2	225727444	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	362312	225727444	17471929	2593	6209											
IRS1	3667	broad.mit.edu	37	2	227660889	227660889	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:227660889C>T	ENST00000305123.5	-	1	3586	c.2566G>A	c.(2566-2568)Gcc>Acc	p.A856T		NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1						fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		GTGGGCCGGGCCAGGCGGCTA	0.662													12	37					0	0	1	0	0	T	227660889	C	T	227660889	3	4	81	1	0	0	0	0	1	0	0	0	7884	739	26	2	1166	2	IRS1	2	227660889	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1933445	227660889	15538484	2594	6210											
IRS1	3667	broad.mit.edu	37	2	227662846	227662846	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:227662846G>A	ENST00000305123.5	-	1	1629	c.609C>T	c.(607-609)gcC>gcT	p.A203A		NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1		IRS-type PTB.				fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		GCAGCACCACGGCCGCTGCCT	0.592											OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	15	29					0	0	1	0	0	A	227662846	G	A	227662846	2	1	81	1	0	0	0	0	0	0	0	1	7884	1103	39	1		1	IRS1	2	227662846	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1957	227662846	15536527	2595	6211											
COL4A4	1286	broad.mit.edu	37	2	227924141	227924141	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:227924141G>A	ENST00000396625.3	-	28	2570	c.2363C>T	c.(2362-2364)cCg>cTg	p.P788L	COL4A4_ENST00000329662.7_Missense_Mutation_p.P788L	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	788	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding	p.P788Q(1)		breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		TGGACATCCCGGATCACCTCT	0.532													63	95					0	0	1	0	0	A	227924141	G	A	227924141	3	1	81	1	0	0	0	0	1	0	0	0	3716	1116	39	1	2793	1	COL4A4	2	227924141	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	261295	227924141	15275232	2596	6212											
COL4A4	1286	broad.mit.edu	37	2	227954604	227954604	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:227954604C>T	ENST00000396625.3	-	21	1646	c.1439G>A	c.(1438-1440)aGa>aAa	p.R480K	COL4A4_ENST00000329662.7_Missense_Mutation_p.R480K	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	480	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		TTTTGGGCCTCTTCCTCCTGG	0.488													18	32					0	0	1	0	0	T	227954604	C	T	227954604	3	4	81	1	0	0	0	0	1	0	0	0	3716	913	32	2	3745	2	COL4A4	2	227954604	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	30463	227954604	15244769	2597	6213											
COL4A4	1286	broad.mit.edu	37	2	228012194	228012194	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:228012194C>T	ENST00000396625.3	-	2	213	c.6G>A	c.(4-6)tgG>tgA	p.W2*	COL4A4_ENST00000329662.7_Nonsense_Mutation_p.W2*	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	2					axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		TGTGCAGAGACCACATCGCAG	0.448													73	133					0	0	1	0	0	T	228012194	C	T	228012194	4	4	81	1	0	0	0	0	0	1	0	0	3716	508	18	2	5254	2	COL4A4	2	228012194	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	57590	228012194	15187179	2598	6214											
MFF	56947	broad.mit.edu	37	2	228205057	228205057	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:228205057C>T	ENST00000353339.3	+	6	920	c.479C>T	c.(478-480)gCt>gTt	p.A160V	MFF_ENST00000524634.1_Missense_Mutation_p.A5V|MFF_ENST00000304593.9_Missense_Mutation_p.A134V|MFF_ENST00000409616.1_Missense_Mutation_p.A134V|MFF_ENST00000476924.1_3'UTR|MFF_ENST00000392059.1_Missense_Mutation_p.A160V|MFF_ENST00000354503.6_Missense_Mutation_p.A134V|MFF_ENST00000349901.7_Missense_Mutation_p.A134V|MFF_ENST00000409565.1_Missense_Mutation_p.A134V|MFF_ENST00000337110.7_Missense_Mutation_p.A134V	NM_001277061.1	NP_001263990.1	Q9GZY8	MFF_HUMAN	mitochondrial fission factor	160						integral to membrane|mitochondrial outer membrane				breast(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(4)|stomach(2)	21						AGTGAAAATGCTGTTCGCCAA	0.403													11	22					0	0	1	0	0	T	228205057	C	T	228205057	3	4	81	1	0	0	0	0	1	0	0	0	9569	797	28	2	493	2	MFF	2	228205057	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	192863	228205057	14994316	2599	6215											
TM4SF20	79853	broad.mit.edu	37	2	228228534	228228534	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:228228534C>A	ENST00000304568.3	-	4	633	c.596G>T	c.(595-597)gGa>gTa	p.G199V		NM_024795.3	NP_079071.2	Q53R12	T4S20_HUMAN	transmembrane 4 L six family member 20	199						integral to membrane|plasma membrane				breast(1)|kidney(2)|large_intestine(1)|lung(4)|stomach(2)	10		Renal(207;0.025)|all_lung(227;0.123)|Esophageal squamous(248;0.23)|all_hematologic(139;0.248)		Epithelial(121;3.8e-11)|all cancers(144;2.57e-08)|Lung(261;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0115)		CTCCAGAATTCCAACAAGCAA	0.428													53	97					1.19403e-26	1.58354e-26	1	1	0	A	228228534	C	A	228228534	3	1	81	1	0	0	0	0	1	0	0	0	16029	855	30	5	97	5	TM4SF20	2	228228534	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	23477	228228534	14970839	2600	6216											
AGFG1	3267	broad.mit.edu	37	2	228399560	228399560	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:228399560G>T	ENST00000310078.8	+	8	1284		c.e8-1		AGFG1_ENST00000373671.3_Splice_Site|AGFG1_ENST00000409171.1_Splice_Site|AGFG1_ENST00000409979.2_Splice_Site|AGFG1_ENST00000409315.1_Intron	NM_001135188.1|NM_001135189.1|NM_004504.4	NP_001128660.1|NP_001128661.1|NP_004495.2	P52594	AGFG1_HUMAN	ArfGAP with FG repeats 1						cell differentiation|mRNA export from nucleus|multicellular organismal development|regulation of ARF GTPase activity|spermatogenesis	cytoplasmic membrane-bounded vesicle|Golgi apparatus|nuclear pore	ARF GTPase activator activity|DNA binding|protein binding|RNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(2)|ovary(1)|prostate(1)|skin(4)|stomach(1)	18						TTCGTTCCCAGGTGGTGATCA	0.408													10	53					3.86212e-05	4.27865e-05	1	1	0	T	228399560	G	T	228399560	5	4	81	1	0	0	0	0	0	0	1	0	377	1014	35	4	1130	4	AGFG1	2	228399560	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	171026	228399560	14799813	2601	6217											
AGFG1	3267	broad.mit.edu	37	2	228418504	228418504	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:228418504C>A	ENST00000310078.8	+	12	1882	c.1622C>A	c.(1621-1623)cCt>cAt	p.P541H	AGFG1_ENST00000373671.3_Missense_Mutation_p.P501H|AGFG1_ENST00000409171.1_Missense_Mutation_p.P539H|AGFG1_ENST00000409979.2_Missense_Mutation_p.P563H|AGFG1_ENST00000409315.1_Missense_Mutation_p.P520H	NM_001135188.1|NM_001135189.1|NM_004504.4	NP_001128660.1|NP_001128661.1|NP_004495.2	P52594	AGFG1_HUMAN	ArfGAP with FG repeats 1						cell differentiation|mRNA export from nucleus|multicellular organismal development|regulation of ARF GTPase activity|spermatogenesis	cytoplasmic membrane-bounded vesicle|Golgi apparatus|nuclear pore	ARF GTPase activator activity|DNA binding|protein binding|RNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(2)|ovary(1)|prostate(1)|skin(4)|stomach(1)	18						TCTAGTAATCCTTTTATGGTA	0.313													4	58					0.00909568	0.00944708	1	1	0	A	228418504	C	A	228418504	3	1	81	1	0	0	0	0	1	0	0	0	377	681	24	4	1744	4	AGFG1	2	228418504	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	18944	228418504	14780869	2602	6218											
SPHKAP	80309	broad.mit.edu	37	2	228882782	228882782	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:228882782C>T	ENST00000392056.3	-	7	2834	c.2788G>A	c.(2788-2790)Gcg>Acg	p.A930T	SPHKAP_ENST00000344657.5_Missense_Mutation_p.A930T	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	930	PKA-RII subunit binding domain (By similarity).					cytoplasm	protein binding	p.A930T(1)		NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		AATTCTTCCGCAAAGTCTGTA	0.473													12	135					0	0	1	0	0	T	228882782	C	T	228882782	3	4	81	1	0	0	0	0	1	0	0	0	15104	710	25	2	2338	2	SPHKAP	2	228882782	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	464278	228882782	14316591	2603	6219											
SPHKAP	80309	broad.mit.edu	37	2	228884074	228884074	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:228884074G>A	ENST00000392056.3	-	7	1542	c.1496C>T	c.(1495-1497)gCg>gTg	p.A499V	SPHKAP_ENST00000344657.5_Missense_Mutation_p.A499V	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	499						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		ACAAGCTAACGCCACTTCTAG	0.527													15	24					0	0	1	0	0	A	228884074	G	A	228884074	3	1	81	1	0	0	0	0	1	0	0	0	15104	1087	38	1	3630	1	SPHKAP	2	228884074	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1292	228884074	14315299	2604	6220											
DNER	92737	broad.mit.edu	37	2	230377525	230377525	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:230377525C>T	ENST00000341772.4	-	6	1255	c.1121G>A	c.(1120-1122)aGc>aAc	p.S374N		NM_139072.3	NP_620711.3	Q8NFT8	DNER_HUMAN	delta/notch-like EGF repeat containing	374	EGF-like 4.				central nervous system development|endocytosis|neuron migration|Notch signaling pathway|synapse assembly	dendrite|early endosome|integral to membrane|plasma membrane	calcium ion binding|clathrin binding|transmembrane receptor activity			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	63		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)		GGTGAAATTGCTCCCATCTTG	0.423													53	78					0	0	1	0	0	T	230377525	C	T	230377525	3	4	81	1	0	0	0	0	1	0	0	0	4694	797	28	2	1124	2	DNER	2	230377525	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1493451	230377525	12821848	2605	6221											
TRIP12	9320	broad.mit.edu	37	2	230656709	230656709	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:230656709A>G	ENST00000283943.5	-	28	4241	c.4063T>C	c.(4063-4065)Tat>Cat	p.Y1355H	TRIP12_ENST00000389045.3_Missense_Mutation_p.Y1085H|TRIP12_ENST00000389044.4_Missense_Mutation_p.Y1403H	NM_001284214.1|NM_004238.1	NP_001271143.1|NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	1355					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		GTCATGTTATACGGCAGCAAA	0.423													60	71					0	0	1	0	0	G	230656709	A	G	230656709	3	3	81	1	0	0	0	0	1	0	0	0	16617	391	14	3	1971	3	TRIP12	2	230656709	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	279184	230656709	12542664	2606	6222											
TRIP12	9320	broad.mit.edu	37	2	230668856	230668856	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:230668856A>G	ENST00000283943.5	-	18	2691	c.2513T>C	c.(2512-2514)tTa>tCa	p.L838S	TRIP12_ENST00000543084.1_Intron|TRIP12_ENST00000389045.3_Missense_Mutation_p.L568S|TRIP12_ENST00000389044.4_Missense_Mutation_p.L886S	NM_001284214.1|NM_004238.1	NP_001271143.1|NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	838					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		AACACCAAATAATGTCTTAAT	0.388													7	102					0	0	1	0	0	G	230668856	A	G	230668856	3	3	81	1	0	0	0	0	1	0	0	0	16617	372	13	3	3561	3	TRIP12	2	230668856	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	12147	230668856	12530517	2607	6223											
TRIP12	9320	broad.mit.edu	37	2	230672573	230672573	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:230672573T>C	ENST00000283943.5	-	16	2381	c.2203A>G	c.(2203-2205)Atg>Gtg	p.M735V	TRIP12_ENST00000543084.1_Intron|TRIP12_ENST00000389045.3_Missense_Mutation_p.M438V|TRIP12_ENST00000389044.4_Missense_Mutation_p.M783V	NM_001284214.1|NM_004238.1	NP_001271143.1|NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	735					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		AAACATGGCATAAGTTCACTG	0.343													6	16					0	0	1	0	0	C	230672573	T	C	230672573	3	2	81	1	0	0	0	0	1	0	0	0	16617	1406	49	3	3879	3	TRIP12	2	230672573	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	3717	230672573	12526800	2608	6224											
FBXO36	130888	broad.mit.edu	37	2	230861496	230861496	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:230861496A>G	ENST00000373652.3	+	4	563	c.142A>G	c.(142-144)Ata>Gta	p.I48V	FBXO36_ENST00000409992.1_Intron|FBXO36_ENST00000283946.3_Missense_Mutation_p.I79V			Q8NEA4	FBX36_HUMAN	F-box protein 36	79										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)	7		Renal(207;0.0112)|all_lung(227;0.0179)|Lung NSC(271;0.0804)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;7.56e-14)|all cancers(144;7.74e-11)|Lung(119;0.00488)|LUSC - Lung squamous cell carcinoma(224;0.008)		TGGTGCAAGAATATTAGACTA	0.333													53	73					0	0	1	0	0	G	230861496	A	G	230861496	3	3	81	1	0	0	0	0	1	0	0	0	5778	101	4	3	245	3	FBXO36	2	230861496	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	188923	230861496	12337877	2609	6225											
FBXO36	130888	broad.mit.edu	37	2	230875554	230875554	+	Missense_Mutation	SNP	G	G	A	rs145410117		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:230875554G>A	ENST00000373652.3	+	5	849	c.428G>A	c.(427-429)cGc>cAc	p.R143H	FBXO36_ENST00000409992.1_Missense_Mutation_p.R154H|FBXO36_ENST00000283946.3_Missense_Mutation_p.R174H			Q8NEA4	FBX36_HUMAN	F-box protein 36	174										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)	7		Renal(207;0.0112)|all_lung(227;0.0179)|Lung NSC(271;0.0804)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;7.56e-14)|all cancers(144;7.74e-11)|Lung(119;0.00488)|LUSC - Lung squamous cell carcinoma(224;0.008)		CGGCAGCTCCGCAAGAGGAAA	0.542													7	9					0	0	1	0	0	A	230875554	G	A	230875554	3	1	81	1	0	0	0	0	1	0	0	0	5778	1087	38	1	535	1	FBXO36	2	230875554	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	14058	230875554	12323819	2610	6226											
SP110	3431	broad.mit.edu	37	2	231067397	231067397	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:231067397C>T	ENST00000258381.6	-	9	1023	c.946G>A	c.(946-948)Gat>Aat	p.D316N	SP110_ENST00000392048.3_Missense_Mutation_p.D314N|SP110_ENST00000540870.1_Missense_Mutation_p.D322N|SP110_ENST00000338556.3_Intron|SP110_ENST00000358662.4_Missense_Mutation_p.D316N|SP110_ENST00000258382.5_Missense_Mutation_p.D316N	NM_080424.2	NP_536349	Q9HB58	SP110_HUMAN	SP110 nuclear body protein	316					interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|signal transducer activity|zinc ion binding			breast(4)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Renal(207;0.0112)|all_lung(227;0.0223)|Lung NSC(271;0.0983)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.169)		Epithelial(121;2.61e-12)|all cancers(144;6.39e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.0097)		GGAACCTGATCCACCCTTTTG	0.453													41	100					0	0	1	0	0	T	231067397	C	T	231067397	3	4	81	1	0	0	0	0	1	0	0	0	15015	855	30	2	1303	2	SP110	2	231067397	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	191843	231067397	12131976	2611	6227											
SP100	6672	broad.mit.edu	37	2	231282380	231282380	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:231282380G>T	ENST00000264052.5	+	2	462	c.107G>T	c.(106-108)aGg>aTg	p.R36M	SP100_ENST00000340126.4_Splice_Site_p.R36M|SP100_ENST00000409112.1_Splice_Site_p.R36M|SP100_ENST00000409897.1_5'UTR|SP100_ENST00000427101.2_Intron|SP100_ENST00000409341.1_Splice_Site_p.R36M|SP100_ENST00000341950.4_Splice_Site_p.R36M|SP100_ENST00000409824.1_Intron	NM_003113.3	NP_003104.2	P23497	SP100_HUMAN	SP100 nuclear antigen	36	HSR.				DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|interspecies interaction between organisms|negative regulation of cellular component movement|negative regulation of DNA binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of viral transcription|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to cytokine stimulus|response to retinoic acid|response to type I interferon	cytoplasm|nuclear periphery|nucleolus|PML body	chromo shadow domain binding|DNA binding|identical protein binding|kinase binding|protein homodimerization activity|transcription coactivator activity|transcription corepressor activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1)	25		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		gatttgcaaaggtgatgaatg	0.378													27	44					1.2476e-16	1.60284e-16	1	1	0	T	231282380	G	T	231282380	5	4	81	1	0	0	0	0	0	0	1	0	15014	1014	35	4	113	4	SP100	2	231282380	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	214983	231282380	11916993	2612	6228											
SP100	6672	broad.mit.edu	37	2	231379976	231379976	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:231379976C>A	ENST00000264052.5	+	25	2616	c.2261C>A	c.(2260-2262)cCt>cAt	p.P754H	SP100_ENST00000340126.4_Intron	NM_003113.3	NP_003104.2	P23497	SP100_HUMAN	SP100 nuclear antigen	754					DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|interspecies interaction between organisms|negative regulation of cellular component movement|negative regulation of DNA binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of viral transcription|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to cytokine stimulus|response to retinoic acid|response to type I interferon	cytoplasm|nuclear periphery|nucleolus|PML body	chromo shadow domain binding|DNA binding|identical protein binding|kinase binding|protein homodimerization activity|transcription coactivator activity|transcription corepressor activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1)	25		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		ACCTATATCCCTCCTAAAGGG	0.423													16	35					2.31682e-05	2.58805e-05	1	1	0	A	231379976	C	A	231379976	3	1	81	1	0	0	0	0	1	0	0	0	15014	681	24	4	2359	4	SP100	2	231379976	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	97596	231379976	11819397	2613	6229											
CAB39	51719	broad.mit.edu	37	2	231683256	231683256	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:231683256C>T	ENST00000258418.5	+	9	1292	c.863C>T	c.(862-864)aCg>aTg	p.T288M	CAB39_ENST00000409788.3_Missense_Mutation_p.T288M|CAB39_ENST00000410084.3_Missense_Mutation_p.T288M	NM_016289.3	NP_057373.1	Q9Y376	CAB39_HUMAN	calcium binding protein 39	288					cell cycle arrest|insulin receptor signaling pathway|regulation of fatty acid oxidation	cytosol	kinase binding			central_nervous_system(1)|large_intestine(1)|skin(1)	3		all_lung(227;4.63e-07)|all_hematologic(139;1.83e-06)|Lung NSC(271;2.11e-05)|Acute lymphoblastic leukemia(138;5.51e-05)|Hepatocellular(293;0.0207)|Lung SC(224;0.187)		all cancers(144;1.64e-12)|Epithelial(121;5.29e-11)|LUSC - Lung squamous cell carcinoma(224;0.0154)|Lung(119;0.0177)|COAD - Colon adenocarcinoma(134;0.226)		CCTAACAAGACGCAGCCCATC	0.527													12	30					0	0	1	0	0	T	231683256	C	T	231683256	3	4	81	1	0	0	0	0	1	0	0	0	2543	536	19	1	893	1	CAB39	2	231683256	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	303280	231683256	11516117	2614	6230											
PSMD1	5707	broad.mit.edu	37	2	231941835	231941835	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:231941835C>T	ENST00000308696.6	+	9	1192	c.1030C>T	c.(1030-1032)Cga>Tga	p.R344*	PSMD1_ENST00000409643.1_Nonsense_Mutation_p.R344*|PSMD1_ENST00000373635.4_Nonsense_Mutation_p.R344*	NM_002807.3	NP_002798.2	Q99460	PSMD1_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 1	344					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	enzyme regulator activity|protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)	31		Ovarian(221;0.000626)|Medulloblastoma(418;0.0109)|Renal(207;0.0112)|Lung NSC(271;0.0538)|all_lung(227;0.0713)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;4e-26)|LUSC - Lung squamous cell carcinoma(224;0.0138)|Lung(119;0.0168)	Bortezomib(DB00188)	GTTCTTAATACGAAACAATAA	0.299													5	40					0	0	1	0	0	T	231941835	C	T	231941835	4	4	81	1	0	0	0	0	0	1	0	0	12741	528	19	1	1064	1	PSMD1	2	231941835	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	258579	231941835	11257538	2615	6231											
NCL	4691	broad.mit.edu	37	2	232325433	232325433	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:232325433T>C	ENST00000322723.4	-	4	998	c.758A>G	c.(757-759)gAt>gGt	p.D253G		NM_005381.2	NP_005372.2	P19338	NUCL_HUMAN	nucleolin	253	Asp/Glu-rich (acidic).				angiogenesis	cell cortex|nucleolus|ribonucleoprotein complex	nucleotide binding|protein C-terminus binding|RNA binding|telomeric DNA binding			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(3)	35		Ovarian(221;1.34e-05)|Renal(207;0.0112)|Lung NSC(271;0.0339)|all_lung(227;0.0616)|all_hematologic(139;0.0748)|Hepatocellular(293;0.137)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.65e-111)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)|COAD - Colon adenocarcinoma(134;0.141)|STAD - Stomach adenocarcinoma(1183;0.18)		atcatcttcatcatcttcgtc	0.428													33	66					0	0	1	0	0	C	232325433	T	C	232325433	3	2	81	1	0	0	0	0	1	0	0	0	10273	1435	50	3	1418	3	NCL	2	232325433	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	383598	232325433	10873940	2616	6232											
NMUR1	10316	broad.mit.edu	37	2	232390003	232390003	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:232390003G>T	ENST00000305141.4	-	3	1165	c.1032C>A	c.(1030-1032)ttC>ttA	p.F344L		NM_006056.4	NP_006047.3	Q9HB89	NMUR1_HUMAN	neuromedin U receptor 1	344					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|calcium ion transport|calcium-mediated signaling|chloride transport|smooth muscle contraction	integral to plasma membrane|membrane fraction	neuromedin U receptor activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(12)|pancreas(1)|skin(1)	24		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;8.37e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)		CCAGGTAGAAGAAGATGCCGG	0.657													26	41					2.12542e-12	2.65769e-12	1	1	0	T	232390003	G	T	232390003	3	4	81	1	0	0	0	0	1	0	0	0	10553	933	33	4	252	4	NMUR1	2	232390003	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	64570	232390003	10809370	2617	6233											
NMUR1	10316	broad.mit.edu	37	2	232393400	232393400	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:232393400A>G	ENST00000305141.4	-	2	465	c.332T>C	c.(331-333)cTg>cCg	p.L111P		NM_006056.4	NP_006047.3	Q9HB89	NMUR1_HUMAN	neuromedin U receptor 1	111					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|calcium ion transport|calcium-mediated signaling|chloride transport|smooth muscle contraction	integral to plasma membrane|membrane fraction	neuromedin U receptor activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(12)|pancreas(1)|skin(1)	24		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;8.37e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)		CAGGCCCACCAGCAGCACCAG	0.602													28	65					0	0	1	0	0	G	232393400	A	G	232393400	3	3	81	1	0	0	0	0	1	0	0	0	10553	188	7	3	956	3	NMUR1	2	232393400	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	3397	232393400	10805973	2618	6234											
NMUR1	10316	broad.mit.edu	37	2	232393708	232393708	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:232393708G>T	ENST00000305141.4	-	2	157	c.24C>A	c.(22-24)tgC>tgA	p.C8*		NM_006056.4	NP_006047.3	Q9HB89	NMUR1_HUMAN	neuromedin U receptor 1	8					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|calcium ion transport|calcium-mediated signaling|chloride transport|smooth muscle contraction	integral to plasma membrane|membrane fraction	neuromedin U receptor activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(12)|pancreas(1)|skin(1)	24		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;8.37e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)		GGAGGACAGAGCAATTGAGGC	0.572													4	13					0.000602214	0.000646338	1	1	0	T	232393708	G	T	232393708	4	4	81	1	0	0	0	0	0	1	0	0	10553	963	34	4	1264	4	NMUR1	2	232393708	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	308	232393708	10805665	2619	6235											
C2orf57	165100	broad.mit.edu	37	2	232457829	232457829	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:232457829C>T	ENST00000313965.2	+	1	255	c.167C>T	c.(166-168)aCg>aTg	p.T56M		NM_152614.2	NP_689827.2	Q53QW1	CB057_HUMAN	chromosome 2 open reading frame 57	56										endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|pancreas(1)|prostate(4)|skin(2)	19		Renal(207;0.025)|all_hematologic(139;0.0735)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;1.33e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)		TCCTTCAAGACGGCCACCCCC	0.542													26	52					0	0	1	0	0	T	232457829	C	T	232457829	3	4	81	1	0	0	0	0	1	0	0	0	2192	536	19	1	169	1	C2orf57	2	232457829	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	64121	232457829	10741544	2620	6236											
DIS3L2	129563	broad.mit.edu	37	2	232894770	232894770	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:232894770C>A	ENST00000325385.7	+	5	622	c.346C>A	c.(346-348)Ctt>Att	p.L116I	DIS3L2_ENST00000470087.1_3'UTR|DIS3L2_ENST00000360410.4_Missense_Mutation_p.L116I|DIS3L2_ENST00000409401.3_Missense_Mutation_p.L116I|DIS3L2_ENST00000273009.6_Missense_Mutation_p.L116I|DIS3L2_ENST00000409307.1_Missense_Mutation_p.L116I	NM_152383.4	NP_689596.4	Q8IYB7	DI3L2_HUMAN	DIS3 mitotic control homolog (S. cerevisiae)-like 2	116							exonuclease activity|ribonuclease activity|RNA binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(2)|urinary_tract(1)	40		all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136)		Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149)		CGTGAAACTGCTTCCCGAGGA	0.418													16	79					3.52763e-06	4.02143e-06	1	1	0	A	232894770	C	A	232894770	3	1	81	1	0	0	0	0	1	0	0	0	4565	797	28	4	360	4	DIS3L2	2	232894770	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	436941	232894770	10304603	2621	6237											
DIS3L2	129563	broad.mit.edu	37	2	233199425	233199425	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:233199425C>T	ENST00000325385.7	+	19	2650	c.2374C>T	c.(2374-2376)Cag>Tag	p.Q792*	DIS3L2_ENST00000273009.6_Intron|DIS3L2_ENST00000409307.1_Nonsense_Mutation_p.Q792*	NM_152383.4	NP_689596.4	Q8IYB7	DI3L2_HUMAN	DIS3 mitotic control homolog (S. cerevisiae)-like 2	792							exonuclease activity|ribonuclease activity|RNA binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(2)|urinary_tract(1)	40		all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136)		Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149)		CTACGGCGTGCAGAAGCGCAT	0.657													5	13					0	0	1	0	0	T	233199425	C	T	233199425	4	4	81	1	0	0	0	0	0	1	0	0	4565	711	25	2	2444	2	DIS3L2	2	233199425	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	304655	233199425	9999948	2622	6238											
ECEL1	9427	broad.mit.edu	37	2	233349249	233349249	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:233349249C>A	ENST00000304546.1	-	6	1327	c.1117G>T	c.(1117-1119)Gag>Tag	p.E373*	ECEL1_ENST00000409941.1_Nonsense_Mutation_p.E373*	NM_004826.2	NP_004817.2	O95672	ECEL1_HUMAN	endothelin converting enzyme-like 1	373					neuropeptide signaling pathway|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000771)|Lung(119;0.00213)|LUSC - Lung squamous cell carcinoma(224;0.00746)		AGCACCACCTCCTCTTCCTCT	0.592													10	142					1	1	1	1	0	A	233349249	C	A	233349249	4	1	81	1	0	0	0	0	0	1	0	0	4917	864	30	5	1262	5	ECEL1	2	233349249	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	149824	233349249	9850124	2623	6239											
CHRND	1144	broad.mit.edu	37	2	233399045	233399045	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:233399045A>G	ENST00000258385.3	+	11	1396	c.1364A>G	c.(1363-1365)tAc>tGc	p.Y455C	CHRND_ENST00000543200.1_Missense_Mutation_p.Y440C|CHRND_ENST00000457943.2_Missense_Mutation_p.Y261C	NM_000751.2	NP_000742.1	Q07001	ACHD_HUMAN	cholinergic receptor, nicotinic, delta (muscle)	455					muscle contraction|musculoskeletal movement|neuromuscular process|skeletal muscle tissue growth|synaptic transmission	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)	34		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754)		CAGAACAATTACAATGAGGTA	0.493													19	31					0	0	1	0	0	G	233399045	A	G	233399045	3	3	81	1	0	0	0	0	1	0	0	0	3416	391	14	3	1406	3	CHRND	2	233399045	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	49796	233399045	9800328	2624	6240											
CHRNG	1146	broad.mit.edu	37	2	233408362	233408362	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:233408362T>A	ENST00000389494.3	+	9	1009	c.988T>A	c.(988-990)Tcc>Acc	p.S330T	CHRNG_ENST00000389492.3_Missense_Mutation_p.S278T	NM_005199.4	NP_005190.4	P07510	ACHG_HUMAN	cholinergic receptor, nicotinic, gamma (muscle)	330					muscle contraction	cell junction|postsynaptic membrane	acetylcholine receptor activity			breast(2)|endometrium(3)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;6.39e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00079)|LUSC - Lung squamous cell carcinoma(224;0.00757)|Lung(119;0.0086)		GCTCAATGTCTCCTTGCGGTC	0.622													14	21					0	0	1	0	0	A	233408362	T	A	233408362	3	1	81	1	0	0	0	0	1	0	0	0	3418	1551	54	5	1022	5	CHRNG	2	233408362	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	9317	233408362	9791011	2625	6241											
EIF4E2	9470	broad.mit.edu	37	2	233422710	233422710	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:233422710G>T	ENST00000409514.1	+	3	294	c.252G>T	c.(250-252)caG>caT	p.Q84H	EIF4E2_ENST00000409322.1_Intron|EIF4E2_ENST00000409394.1_Intron|EIF4E2_ENST00000409495.1_Missense_Mutation_p.Q84H|EIF4E2_ENST00000258416.3_Missense_Mutation_p.Q84H|EIF4E2_ENST00000409167.3_Intron|EIF4E2_ENST00000409098.1_Missense_Mutation_p.Q84H	NM_001282958.1	NP_001269887.1	O60573	IF4E2_HUMAN	eukaryotic translation initiation factor 4E family member 2	84					regulation of translation	cytoplasm|mRNA cap binding complex	RNA cap binding|translation initiation factor activity|ubiquitin protein ligase binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	8		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;2.3e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000912)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		ATATCAAACAGATTGGCACCT	0.463													4	60					0.00024832	0.000269806	1	1	0	T	233422710	G	T	233422710	3	4	81	1	0	0	0	0	1	0	0	0	5058	933	33	4	262	4	EIF4E2	2	233422710	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	14348	233422710	9776663	2626	6242											
GIGYF2	26058	broad.mit.edu	37	2	233681620	233681620	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:233681620C>T	ENST00000373566.3	+	21	2511	c.2314C>T	c.(2314-2316)Cgg>Tgg	p.R772W	GIGYF2_ENST00000409480.1_Missense_Mutation_p.R772W|GIGYF2_ENST00000373563.4_Missense_Mutation_p.R750W|GIGYF2_ENST00000409196.3_Missense_Mutation_p.R744W|GIGYF2_ENST00000409451.3_Missense_Mutation_p.R771W|GIGYF2_ENST00000409547.1_Missense_Mutation_p.R750W|GIGYF2_ENST00000452341.2_Missense_Mutation_p.R581W			Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	750	Gln-rich.|Glu-rich.				cell death		protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		GAGGGCAAAACGGGAAGAGGA	0.478													20	49					0	0	1	0	0	T	233681620	C	T	233681620	3	4	81	1	0	0	0	0	1	0	0	0	6420	527	19	1	2388	1	GIGYF2	2	233681620	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	258910	233681620	9517753	2627	6243											
GIGYF2	26058	broad.mit.edu	37	2	233681715	233681715	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:233681715G>T	ENST00000373566.3	+	21	2606	c.2409G>T	c.(2407-2409)gaG>gaT	p.E803D	GIGYF2_ENST00000409480.1_Missense_Mutation_p.E803D|GIGYF2_ENST00000373563.4_Missense_Mutation_p.E781D|GIGYF2_ENST00000409196.3_Missense_Mutation_p.E775D|GIGYF2_ENST00000409451.3_Missense_Mutation_p.E802D|GIGYF2_ENST00000409547.1_Missense_Mutation_p.E781D|GIGYF2_ENST00000452341.2_Missense_Mutation_p.E612D			Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	781	Gln-rich.|Glu-rich.				cell death		protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		AAAGGCGAGAGGAAGAAGAAC	0.473													10	252					5.16669e-11	6.3748e-11	1	1	0	T	233681715	G	T	233681715	3	4	81	1	0	0	0	0	1	0	0	0	6420	991	35	4	2483	4	GIGYF2	2	233681715	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	95	233681715	9517658	2628	6244											
GIGYF2	26058	broad.mit.edu	37	2	233710533	233710533	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:233710533G>T	ENST00000373566.3	+	27	3660	c.3463G>T	c.(3463-3465)Gat>Tat	p.D1155Y	GIGYF2_ENST00000409480.1_Missense_Mutation_p.D1155Y|GIGYF2_ENST00000373563.4_Missense_Mutation_p.D1133Y|GIGYF2_ENST00000409196.3_Missense_Mutation_p.D1127Y|GIGYF2_ENST00000409451.3_Missense_Mutation_p.D1154Y|GIGYF2_ENST00000409547.1_Missense_Mutation_p.D1133Y			Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	1133					cell death		protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		TAAAGCCCAAGATGGATTTAC	0.423													32	53					6.04164e-23	7.94791e-23	1	1	0	T	233710533	G	T	233710533	3	4	81	1	0	0	0	0	1	0	0	0	6420	942	33	4	3561	4	GIGYF2	2	233710533	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	28818	233710533	9488840	2629	6245											
NGEF	25791	broad.mit.edu	37	2	233785012	233785012	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:233785012C>A	ENST00000264051.3	-	5	1088	c.810G>T	c.(808-810)gaG>gaT	p.E270D	NGEF_ENST00000373552.4_Missense_Mutation_p.E178D|NGEF_ENST00000409079.1_Missense_Mutation_p.E178D	NM_019850.2	NP_062824.2	Q8N5V2	NGEF_HUMAN	neuronal guanine nucleotide exchange factor	270	Regulatory region; modulates activity toward RHOA, RAC1 and CDC42 (By similarity).				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|growth cone|plasma membrane	Rho guanyl-nucleotide exchange factor activity			central_nervous_system(4)|endometrium(8)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|skin(4)	35		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604)		GCTTAATCTCCTCGGGCTGTA	0.652													20	31					2.54575e-18	3.30058e-18	1	1	0	A	233785012	C	A	233785012	3	1	81	1	0	0	0	0	1	0	0	0	10441	680	24	4	1366	4	NGEF	2	233785012	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	74479	233785012	9414361	2630	6246											
INPP5D	3635	broad.mit.edu	37	2	233986949	233986949	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:233986949G>A	ENST00000359570.5	+	3	331	c.331G>A	c.(331-333)Gac>Aac	p.D111N	INPP5D_ENST00000474278.1_3'UTR|INPP5D_ENST00000538935.1_Missense_Mutation_p.D111N			Q92835	SHIP1_HUMAN	inositol polyphosphate-5-phosphatase, 145kDa	111					apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway	cytosol	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		CACAGGCGACGACCCTGAGGA	0.567													12	15					0	0	1	0	0	A	233986949	G	A	233986949	3	1	81	1	0	0	0	0	1	0	0	0	7800	1058	37	1	341	1	INPP5D	2	233986949	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	201937	233986949	9212424	2631	6247											
INPP5D	3635	broad.mit.edu	37	2	234113059	234113059	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:234113059G>A	ENST00000359570.5	+	28	3227	c.3227G>A	c.(3226-3228)tGc>tAc	p.C1076Y	INPP5D_ENST00000450745.1_Missense_Mutation_p.C840Y|INPP5D_ENST00000455936.2_Missense_Mutation_p.C840Y			Q92835	SHIP1_HUMAN	inositol polyphosphate-5-phosphatase, 145kDa	0	Pro-rich.				apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway	cytosol	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		TCCTTCACGTGCTCATCCTCT	0.721													7	18					0	0	1	0	0	A	234113059	G	A	234113059	3	1	81	1	0	0	0	0	1	0	0	0	7800	1319	46	2	2873	2	INPP5D	2	234113059	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	126110	234113059	9086314	2632	6248											
ATG16L1	55054	broad.mit.edu	37	2	234201038	234201038	+	Missense_Mutation	SNP	C	C	A	rs144457166		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:234201038C>A	ENST00000392017.4	+	16	1843	c.1586C>A	c.(1585-1587)cCt>cAt	p.P529H	ATG16L1_ENST00000347464.5_Missense_Mutation_p.P366H|ATG16L1_ENST00000373525.5_Missense_Mutation_p.P350H|ATG16L1_ENST00000392020.4_Missense_Mutation_p.P510H|ATG16L1_ENST00000392018.1_Missense_Mutation_p.P546H	NM_001190266.1|NM_001190267.1|NM_030803.6	NP_001177195.1|NP_001177196.1|NP_110430.5	Q676U5	A16L1_HUMAN	autophagy related 16-like 1 (S. cerevisiae)	529				P -> T (in Ref. 5; BAB55412).	autophagic vacuole assembly|protein homooligomerization|protein transport	autophagic vacuole|pre-autophagosomal structure membrane	protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(7)|prostate(3)|skin(1)	25		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0539)		Epithelial(121;1.53e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000379)|LUSC - Lung squamous cell carcinoma(224;0.00619)|Lung(119;0.00732)|GBM - Glioblastoma multiforme(43;0.11)		TTCAGTGCACCTGGGTTCAAG	0.562													8	21					0.00448238	0.00470627	1	1	0	A	234201038	C	A	234201038	3	1	81	1	0	0	0	0	1	0	0	0	1090	681	24	4	1648	4	ATG16L1	2	234201038	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	87979	234201038	8998335	2633	6249											
ATG16L1	55054	broad.mit.edu	37	2	234201945	234201945	+	Missense_Mutation	SNP	C	C	A	rs147191546		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:234201945C>A	ENST00000392017.4	+	17	1929	c.1672C>A	c.(1672-1674)Ctg>Atg	p.L558M	ATG16L1_ENST00000347464.5_Missense_Mutation_p.L395M|ATG16L1_ENST00000373525.5_Missense_Mutation_p.L379M|ATG16L1_ENST00000392020.4_Missense_Mutation_p.L539M|ATG16L1_ENST00000392018.1_Missense_Mutation_p.L575M	NM_001190266.1|NM_001190267.1|NM_030803.6	NP_001177195.1|NP_001177196.1|NP_110430.5	Q676U5	A16L1_HUMAN	autophagy related 16-like 1 (S. cerevisiae)	558					autophagic vacuole assembly|protein homooligomerization|protein transport	autophagic vacuole|pre-autophagosomal structure membrane	protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(7)|prostate(3)|skin(1)	25		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0539)		Epithelial(121;1.53e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000379)|LUSC - Lung squamous cell carcinoma(224;0.00619)|Lung(119;0.00732)|GBM - Glioblastoma multiforme(43;0.11)		TGAGGGCTCTCTGTATATCTG	0.517													18	47					1.96292e-10	2.40212e-10	1	1	0	A	234201945	C	A	234201945	3	1	81	1	0	0	0	0	1	0	0	0	1090	912	32	4	1738	4	ATG16L1	2	234201945	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	907	234201945	8997428	2634	6250											
SAG	6295	broad.mit.edu	37	2	234235800	234235800	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:234235800G>A	ENST00000409110.1	+	7	699	c.469G>A	c.(469-471)Gcc>Acc	p.A157T	SAG_ENST00000449594.2_Missense_Mutation_p.A23T	NM_000541.4	NP_000532.2	P10523	ARRS_HUMAN	S-antigen; retina and pineal gland (arrestin)	157					rhodopsin mediated phototransduction|rhodopsin mediated signaling pathway		protein phosphatase inhibitor activity			cervix(1)|kidney(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	9		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.018)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.054)		Epithelial(121;2.86e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00608)|Lung(119;0.00714)|GBM - Glioblastoma multiforme(43;0.207)		CAAAGCATTCGCCACAGACAG	0.587													32	52					0	0	1	0	0	A	234235800	G	A	234235800	3	1	81	1	0	0	0	0	1	0	0	0	13860	1087	38	1	491	1	SAG	2	234235800	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	33855	234235800	8963573	2635	6251											
DGKD	8527	broad.mit.edu	37	2	234368407	234368407	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:234368407G>A	ENST00000264057.2	+	23	2711	c.2699G>A	c.(2698-2700)cGc>cAc	p.R900H	DGKD_ENST00000409813.3_Missense_Mutation_p.R856H	NM_152879.2	NP_690618.2	Q16760	DGKD_HUMAN	diacylglycerol kinase, delta 130kDa	900					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell growth|diacylglycerol metabolic process|endocytosis|epidermal growth factor receptor signaling pathway|multicellular organismal development|platelet activation|protein homooligomerization|protein transport|response to organic substance|second-messenger-mediated signaling	cytoplasm|cytoplasmic membrane-bounded vesicle|plasma membrane	ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1)	38		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	Phosphatidylserine(DB00144)	GCTCAGTGTCGCACGGTGAAG	0.567													15	24					0	0	1	0	0	A	234368407	G	A	234368407	3	1	81	1	0	0	0	0	1	0	0	0	4495	1087	38	1	2813	1	DGKD	2	234368407	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	132607	234368407	8830966	2636	6252											
UGT1A1	54658	broad.mit.edu	37	2	234526719	234526719	+	Silent	SNP	G	G	A	rs28969669		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:234526719G>A	ENST00000373450.4	+	1	429	c.366G>A	c.(364-366)tcG>tcA	p.S122S		NM_019076.4	NP_061949.3	P22309	UD11_HUMAN							bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding			breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)	TATTTTTTTCGCATTGCAGGA	0.353													49	103					0	0	1	0	0	A	234526719	G	A	234526719	2	1	81	1	0	0	0	0	0	0	0	1	17004	1074	38	1		1	UGT1A1	2	234526719	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	158312	234526719	8672654	2637	6253											
UGT1A1	54658	broad.mit.edu	37	2	234526813	234526813	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:234526813G>T	ENST00000373450.4	+	1	523	c.460G>T	c.(460-462)Ggc>Tgc	p.G154C		NM_019076.4	NP_061949.3	P22309	UD11_HUMAN							bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding			breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)	TGATGCCTGTGGCTTAATTGT	0.438													71	102					4.98926e-31	6.65921e-31	1	1	0	T	234526813	G	T	234526813	3	4	81	1	0	0	0	0	1	0	0	0	17004	1348	47	5		5	UGT1A1	2	234526813	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	94	234526813	8672560	2638	6254											
UGT1A7	54577	broad.mit.edu	37	2	234590698	234590698	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:234590698T>C	ENST00000373426.3	+	1	115	c.115T>C	c.(115-117)Ttc>Ctc	p.F39L	UGT1A9_ENST00000354728.4_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A1_ENST00000609637.1_Intron|UGT1A1_ENST00000373450.4_Intron	NM_019077.2	NP_061950.2														NS(1)|endometrium(6)|kidney(5)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|prostate(1)|skin(1)	33		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;8.93e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000412)|Lung(119;0.00333)|LUSC - Lung squamous cell carcinoma(224;0.00746)		GAGCCACTGGTTCACCATGCA	0.562													5	102					0	0	1	0	0	C	234590698	T	C	234590698	3	2	81	1	0	0	0	0	1	0	0	0	17010	1725	60	3	117	3	UGT1A7	2	234590698	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	63885	234590698	8608675	2639	6255											
UGT1A1	54658	broad.mit.edu	37	2	234669695	234669695	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:234669695G>A	ENST00000360418.3	+	1	762	c.762G>A	c.(760-762)tgG>tgA	p.W254*	UGT1A3_ENST00000482026.1_Intron|UGT1A1_ENST00000608381.1_Intron|UGT1A1_ENST00000608383.1_Nonsense_Mutation_p.W254*|UGT1A4_ENST00000373409.3_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A8_ENST00000305208.5_Nonsense_Mutation_p.W254*|UGT1A1_ENST00000609767.1_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A1_ENST00000609637.1_Intron|UGT1A1_ENST00000373450.4_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A7_ENST00000373426.3_Intron			P22309	UD11_HUMAN		254					bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding			breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)	CATCTGTCTGGCTGTTTAGAA	0.478													57	74					0	0	1	0	0	A	234669695	G	A	234669695	4	1	81	1	0	0	0	0	0	1	0	0	17004	1212	42	2	764	2	UGT1A1	2	234669695	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	78997	234669695	8529678	2640	6256											
TRPM8	79054	broad.mit.edu	37	2	234862630	234862630	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:234862630G>A	ENST00000324695.4	+	10	1250	c.1210G>A	c.(1210-1212)Gtg>Atg	p.V404M	TRPM8_ENST00000433712.2_Missense_Mutation_p.V92M|AC005538.5_ENST00000455991.1_RNA	NM_024080.4	NP_076985.4	Q7Z2W7	TRPM8_HUMAN	transient receptor potential cation channel, subfamily M, member 8	404						integral to membrane				breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	GGATGAAATTGTGAGCAATGC	0.393													11	16					0	0	1	0	0	A	234862630	G	A	234862630	3	1	81	1	0	0	0	0	1	0	0	0	16653	1377	48	2	1244	2	TRPM8	2	234862630	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	192935	234862630	8336743	2641	6257											
TRPM8	79054	broad.mit.edu	37	2	234878920	234878920	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:234878920C>T	ENST00000324695.4	+	17	2245	c.2205C>T	c.(2203-2205)ttC>ttT	p.F735F	TRPM8_ENST00000433712.2_Intron	NM_024080.4	NP_076985.4	Q7Z2W7	TRPM8_HUMAN	transient receptor potential cation channel, subfamily M, member 8	735						integral to membrane				breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	CCTCCCCCTTCGTGGTCTTCT	0.547													125	149					0	0	1	0	0	T	234878920	C	T	234878920	2	4	81	1	0	0	0	0	0	0	0	1	16653	883	31	1		1	TRPM8	2	234878920	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	16290	234878920	8320453	2642	6258											
SH3BP4	23677	broad.mit.edu	37	2	235950399	235950399	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:235950399C>T	ENST00000409212.1	+	4	1493	c.986C>T	c.(985-987)gCt>gTt	p.A329V	SH3BP4_ENST00000344528.4_Missense_Mutation_p.A329V|SH3BP4_ENST00000392011.2_Missense_Mutation_p.A329V			Q9P0V3	SH3B4_HUMAN	SH3-domain binding protein 4	329					endocytosis	clathrin-coated vesicle|coated pit|nucleus	protein binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2)	44		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)		TCCGGGGGTGCTGTCCAGCTT	0.632													13	23					0	0	1	0	0	T	235950399	C	T	235950399	3	4	81	1	0	0	0	0	1	0	0	0	14300	797	28	2	992	2	SH3BP4	2	235950399	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1071479	235950399	7248974	2643	6259											
AGAP1	116987	broad.mit.edu	37	2	236649637	236649637	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:236649637A>G	ENST00000304032.8	+	4	921	c.341A>G	c.(340-342)gAt>gGt	p.D114G	AGAP1_ENST00000336665.5_Missense_Mutation_p.D114G|AGAP1_ENST00000409457.1_Missense_Mutation_p.D114G|AGAP1_ENST00000409538.1_Missense_Mutation_p.D379G	NM_001037131.2	NP_001032208.1	Q9UPQ3	AGAP1_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 1		Small GTPase-like.				protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm	ARF GTPase activator activity|GTP binding|zinc ion binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						ATTGTCGTTGATGGACAGAGC	0.527													6	45					0	0	1	0	0	G	236649637	A	G	236649637	3	3	81	1	0	0	0	0	1	0	0	0	365	333	12	3	355	3	AGAP1	2	236649637	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	699238	236649637	6549736	2644	6260											
AGAP1	116987	broad.mit.edu	37	2	236715915	236715915	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:236715915G>T	ENST00000304032.8	+	9	1570	c.990G>T	c.(988-990)aaG>aaT	p.K330N	AGAP1_ENST00000336665.5_Missense_Mutation_p.K330N|AGAP1_ENST00000409457.1_Missense_Mutation_p.K330N|AGAP1_ENST00000409538.1_Missense_Mutation_p.K595N|AGAP1_ENST00000428334.2_Missense_Mutation_p.K169N	NM_001037131.2	NP_001032208.1	Q9UPQ3	AGAP1_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 1						protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm	ARF GTPase activator activity|GTP binding|zinc ion binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						ACAAAGAGAAGAAAGGCCTGG	0.587													7	108					1.12685e-05	1.27052e-05	1	1	0	T	236715915	G	T	236715915	3	4	81	1	0	0	0	0	1	0	0	0	365	933	33	4	1024	4	AGAP1	2	236715915	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	66278	236715915	6483458	2645	6261											
GBX2	2637	broad.mit.edu	37	2	237074680	237074680	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:237074680G>A	ENST00000306318.4	-	2	1321	c.924C>T	c.(922-924)ggC>ggT	p.G308G	GBX2_ENST00000465889.1_5'UTR|GBX2_ENST00000551105.1_3'UTR	NM_001485.2	NP_001476.2	P52951	GBX2_HUMAN	gastrulation brain homeobox 2	308						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7		Breast(86;0.00235)|Renal(207;0.00339)|all_hematologic(139;0.00357)|all_lung(227;0.0616)|Acute lymphoblastic leukemia(138;0.0775)|Ovarian(221;0.089)|Lung NSC(271;0.179)		Epithelial(121;4.5e-25)|OV - Ovarian serous cystadenocarcinoma(60;5.16e-11)|BRCA - Breast invasive adenocarcinoma(100;3.4e-05)|Lung(119;0.00195)|LUSC - Lung squamous cell carcinoma(224;0.00471)		AATTGGCATTGCCTGCCTTCA	0.597													32	45					0	0	1	0	0	A	237074680	G	A	237074680	2	1	81	1	0	0	0	0	0	0	0	1	6321	1306	46	2		2	GBX2	2	237074680	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	358765	237074680	6124693	2646	6262											
IQCA1	79781	broad.mit.edu	37	2	237272517	237272517	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:237272517G>A	ENST00000409907.3	-	15	2049	c.1775C>T	c.(1774-1776)aCg>aTg	p.T592M	IQCA1_ENST00000431676.2_Missense_Mutation_p.T551M|IQCA1_ENST00000309507.5_Missense_Mutation_p.T589M	NM_024726.4	NP_079002.3	Q86XH1	IQCA1_HUMAN	IQ motif containing with AAA domain 1	592							ATP binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)	26						GTTGGCTCCCGTTTCGGTGCA	0.517													6	99					0	0	1	0	0	A	237272517	G	A	237272517	3	1	81	1	0	0	0	0	1	0	0	0	7846	1145	40	1	713	1	IQCA1	2	237272517	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	197837	237272517	5926856	2647	6263											
COL6A3	1293	broad.mit.edu	37	2	238253054	238253054	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:238253054G>A	ENST00000295550.4	-	36	8059	c.7607C>T	c.(7606-7608)gCg>gTg	p.A2536V	COL6A3_ENST00000409809.1_Missense_Mutation_p.A2330V|COL6A3_ENST00000346358.4_Missense_Mutation_p.A2336V|COL6A3_ENST00000353578.4_Missense_Mutation_p.A2330V|COL6A3_ENST00000347401.3_Missense_Mutation_p.A2335V|COL6A3_ENST00000472056.1_Missense_Mutation_p.A1929V	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	2536	Nonhelical region.|VWFA 11.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GGTGATCCCCGCATCTGAGAG	0.537													17	182					0	0	1	0	0	A	238253054	G	A	238253054	3	1	81	1	0	0	0	0	1	0	0	0	3724	1087	38	1	1962	1	COL6A3	2	238253054	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	980537	238253054	4946319	2648	6264											
COL6A3	1293	broad.mit.edu	37	2	238277674	238277674	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:238277674C>T	ENST00000295550.4	-	10	4884	c.4432G>A	c.(4432-4434)Gtg>Atg	p.V1478M	COL6A3_ENST00000409809.1_Missense_Mutation_p.V1272M|COL6A3_ENST00000346358.4_Missense_Mutation_p.V1278M|COL6A3_ENST00000353578.4_Missense_Mutation_p.V1272M|COL6A3_ENST00000347401.3_Missense_Mutation_p.V1277M|COL6A3_ENST00000472056.1_Missense_Mutation_p.V871M	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1478	Nonhelical region.|VWFA 8.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CTGAACTGCACGACCCCAACT	0.527													15	27					0	0	1	0	0	T	238277674	C	T	238277674	3	4	81	1	0	0	0	0	1	0	0	0	3724	536	19	1	5241	1	COL6A3	2	238277674	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	24620	238277674	4921699	2649	6265											
COL6A3	1293	broad.mit.edu	37	2	238289974	238289974	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:238289974C>T	ENST00000295550.4	-	5	1933	c.1481G>A	c.(1480-1482)aGg>aAg	p.R494K	COL6A3_ENST00000409809.1_Missense_Mutation_p.R288K|COL6A3_ENST00000346358.4_Missense_Mutation_p.R494K|COL6A3_ENST00000353578.4_Missense_Mutation_p.R288K|COL6A3_ENST00000392004.3_Missense_Mutation_p.R288K|COL6A3_ENST00000347401.3_Missense_Mutation_p.R293K|COL6A3_ENST00000472056.1_Missense_Mutation_p.R87K|COL6A3_ENST00000392003.2_Missense_Mutation_p.R87K	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	494	Nonhelical region.|VWFA 3.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		AAATTCAGGCCTCACAGTGTC	0.507													55	92					0	0	1	0	0	T	238289974	C	T	238289974	3	4	81	1	0	0	0	0	1	0	0	0	3724	681	24	2	8259	2	COL6A3	2	238289974	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	12300	238289974	4909399	2650	6266											
COL6A3	1293	broad.mit.edu	37	2	238290034	238290034	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:238290034C>A	ENST00000295550.4	-	5	1873	c.1421G>T	c.(1420-1422)aGg>aTg	p.R474M	COL6A3_ENST00000409809.1_Missense_Mutation_p.R268M|COL6A3_ENST00000346358.4_Missense_Mutation_p.R474M|COL6A3_ENST00000353578.4_Missense_Mutation_p.R268M|COL6A3_ENST00000392004.3_Missense_Mutation_p.R268M|COL6A3_ENST00000347401.3_Missense_Mutation_p.R273M|COL6A3_ENST00000472056.1_Missense_Mutation_p.R67M|COL6A3_ENST00000392003.2_Missense_Mutation_p.R67M	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	474	Nonhelical region.|VWFA 3.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GATTTCCAGCCTCTGGATGAC	0.483													5	59					0.0215528	0.0221217	1	1	0	A	238290034	C	A	238290034	3	1	81	1	0	0	0	0	1	0	0	0	3724	681	24	4	8319	4	COL6A3	2	238290034	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	60	238290034	4909339	2651	6267											
MLPH	79083	broad.mit.edu	37	2	238434343	238434343	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:238434343G>A	ENST00000264605.3	+	7	1069	c.775G>A	c.(775-777)Gaa>Aaa	p.E259K	MLPH_ENST00000338530.4_Missense_Mutation_p.E259K|MLPH_ENST00000409373.1_Missense_Mutation_p.E219K|MLPH_ENST00000445024.2_Missense_Mutation_p.E259K|MLPH_ENST00000410032.1_Intron|MLPH_ENST00000468178.1_3'UTR	NM_024101.5	NP_077006.1	Q9BV36	MELPH_HUMAN	melanophilin	259							metal ion binding			NS(1)|breast(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(11)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1)	25		Breast(86;0.000381)|Renal(207;0.000966)|Ovarian(221;0.0695)|all_hematologic(139;0.095)|all_lung(227;0.17)|Melanoma(123;0.203)		Epithelial(121;1.17e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.02e-10)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.15e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000439)|Lung(119;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0316)		CTCCCATCCGGAAGAGCAGCC	0.662													19	38					0	0	1	0	0	A	238434343	G	A	238434343	3	1	81	1	0	0	0	0	1	0	0	0	9681	1175	41	2	797	2	MLPH	2	238434343	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	144309	238434343	4765030	2652	6268											
RAB17	64284	broad.mit.edu	37	2	238485900	238485900	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:238485900C>A	ENST00000264601.3	-	4	1064	c.435G>T	c.(433-435)caG>caT	p.Q145H	RAB17_ENST00000409576.1_Intron|RAB17_ENST00000538644.1_Splice_Site_p.Q18H|RAB17_ENST00000409822.1_Splice_Site_p.Q18H	NM_022449.3	NP_071894.1	Q9H0T7	RAB17_HUMAN	RAB17, member RAS oncogene family	145					protein transport|small GTPase mediated signal transduction	intracellular|plasma membrane	GTP binding|protein binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(1)	4		Renal(207;0.00272)|Breast(86;0.00297)|all_hematologic(139;0.182)|Ovarian(221;0.221)		Epithelial(121;9.36e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.26e-10)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000354)|Lung(119;0.011)|LUSC - Lung squamous cell carcinoma(224;0.026)		TGGGCGGTACCTGGAAGGTCA	0.622													6	68					0.0215528	0.0221217	1	1	0	A	238485900	C	A	238485900	5	1	81	1	0	0	0	0	0	0	1	0	12954	695	24	4	215	4	RAB17	2	238485900	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	51557	238485900	4713473	2653	6269											
RBM44	375316	broad.mit.edu	37	2	238725905	238725905	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:238725905C>T	ENST00000316997.4	+	3	478	c.346C>T	c.(346-348)Cct>Tct	p.P116S	RBM44_ENST00000409864.1_Missense_Mutation_p.P116S|RBM44_ENST00000444524.2_Intron	NM_001080504.2	NP_001073973.2	Q6ZP01	RBM44_HUMAN	RNA binding motif protein 44	115							nucleotide binding|RNA binding			breast(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(7)|ovary(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266)		ATATTCTATACCTTATTCAGA	0.323													11	22					0	0	1	0	0	T	238725905	C	T	238725905	3	4	81	1	0	0	0	0	1	0	0	0	13190	507	18	2	352	2	RBM44	2	238725905	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	240005	238725905	4473468	2654	6270											
SCLY	51540	broad.mit.edu	37	2	238990708	238990708	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:238990708G>A	ENST00000254663.6	+	6	801	c.659G>A	c.(658-660)cGc>cAc	p.R220H	SCLY_ENST00000555827.1_Missense_Mutation_p.R212H|SCLY_ENST00000373332.3_Missense_Mutation_p.R130H|SCLY_ENST00000409736.2_Missense_Mutation_p.R212H|SCLY_ENST00000422984.2_Missense_Mutation_p.R118H|SCLY_ENST00000429612.2_Intron	NM_016510.5	NP_057594.4	Q96I15	SCLY_HUMAN	selenocysteine lyase	212					cellular amino acid metabolic process	cytosol	pyridoxal phosphate binding|selenocysteine lyase activity|transferase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1)	22		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;1.37e-23)|OV - Ovarian serous cystadenocarcinoma(60;4.6e-12)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;8.25e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000128)|Lung(119;0.0118)|LUSC - Lung squamous cell carcinoma(224;0.0285)		ATCAGTCAGCGCATTAAAGCC	0.547													48	90					0	0	1	0	0	A	238990708	G	A	238990708	3	1	81	1	0	0	0	0	1	0	0	0	13961	1087	38	1	657	1	SCLY	2	238990708	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	264803	238990708	4208665	2655	6271											
KLHL30	377007	broad.mit.edu	37	2	239049946	239049946	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:239049946C>T	ENST00000409223.1	+	2	658	c.551C>T	c.(550-552)gCc>gTc	p.A184V	KLHL30_ENST00000305959.4_Missense_Mutation_p.A166V			Q0D2K2	KLH30_HUMAN	kelch-like family member 30	184	BACK.									lung(4)	4		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		ACTTGTCTGGCCGGCGACCTG	0.687													4	9					0	0	1	0	0	T	239049946	C	T	239049946	3	4	81	1	0	0	0	0	1	0	0	0	8427	739	26	2	553	2	KLHL30	2	239049946	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	59238	239049946	4149427	2656	6272											
KLHL30	377007	broad.mit.edu	37	2	239057697	239057697	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:239057697G>A	ENST00000409223.1	+	7	1496	c.1389G>A	c.(1387-1389)tcG>tcA	p.S463S	KLHL30_ENST00000305959.4_Silent_p.S445S			Q0D2K2	KLH30_HUMAN	kelch-like family member 30	463										lung(4)	4		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		ACCTGTCCTCGCCTCGCTGTG	0.652													3	18					0	0	1	0	0	A	239057697	G	A	239057697	2	1	81	1	0	0	0	0	0	0	0	1	8427	1074	38	1		1	KLHL30	2	239057697	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	7751	239057697	4141676	2657	6273											
ILKAP	80895	broad.mit.edu	37	2	239098610	239098610	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:239098610G>T	ENST00000254654.3	-	4	357	c.182C>A	c.(181-183)tCt>tAt	p.S61Y		NM_030768.2	NP_110395.1	Q9H0C8	ILKAP_HUMAN	integrin-linked kinase-associated serine/threonine phosphatase	61						cytoplasm|protein serine/threonine phosphatase complex	metal ion binding|protein binding			endometrium(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_lung(227;0.152)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;5.49e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.93e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.82e-08)|BRCA - Breast invasive adenocarcinoma(100;0.00012)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0163)		TGTGGCAAGAGAACCTGGAAA	0.438													7	62					2.0095e-06	2.30238e-06	1	1	0	T	239098610	G	T	239098610	3	4	81	1	0	0	0	0	1	0	0	0	7758	942	33	4	1032	4	ILKAP	2	239098610	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	40913	239098610	4100763	2658	6274											
PER2	8864	broad.mit.edu	37	2	239161906	239161906	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:239161906G>T	ENST00000254657.3	-	19	3037	c.2758C>A	c.(2758-2760)Ctg>Atg	p.L920M	PER2_ENST00000254658.3_3'UTR|AC096574.4_ENST00000456601.1_RNA	NM_022817.2	NP_073728.1	O15055	PER2_HUMAN	period circadian clock 2	920	Pro-rich.				circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|signal transducer activity			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)		GCCTGGGGCAGGTTTGGGGTC	0.627													8	59					2.17888e-05	2.43576e-05	1	1	0	T	239161906	G	T	239161906	3	4	81	1	0	0	0	0	1	0	0	0	11777	991	35	4	1029	4	PER2	2	239161906	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	63296	239161906	4037467	2659	6275											
PER2	8864	broad.mit.edu	37	2	239180112	239180112	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:239180112G>A	ENST00000254657.3	-	6	892	c.613C>T	c.(613-615)Ctg>Ttg	p.L205L	PER2_ENST00000355768.2_Silent_p.L205L|PER2_ENST00000440245.1_Silent_p.L205L|PER2_ENST00000254658.3_Silent_p.L205L	NM_022817.2	NP_073728.1	O15055	PER2_HUMAN	period circadian clock 2	205	PAS 1.				circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|signal transducer activity			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)		GAGATGTACAGGATCTTCCCA	0.527													3	31					0	0	1	0	0	A	239180112	G	A	239180112	2	1	81	1	0	0	0	0	0	0	0	1	11777	991	35	2		2	PER2	2	239180112	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	18206	239180112	4019261	2660	6276											
PER2	8864	broad.mit.edu	37	2	239186389	239186389	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:239186389C>A	ENST00000254657.3	-	2	468	c.189G>T	c.(187-189)aaG>aaT	p.K63N	PER2_ENST00000355768.2_Missense_Mutation_p.K63N|PER2_ENST00000440245.1_Missense_Mutation_p.K63N|PER2_ENST00000254658.3_Missense_Mutation_p.K63N	NM_022817.2	NP_073728.1	O15055	PER2_HUMAN	period circadian clock 2	63					circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|signal transducer activity			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)		TCCCCAGCTCCTTCCCACTGT	0.597													6	41					0.0293803	0.0300537	1	1	0	A	239186389	C	A	239186389	3	1	81	1	0	0	0	0	1	0	0	0	11777	680	24	4	3666	4	PER2	2	239186389	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	6277	239186389	4012984	2661	6277											
HDAC4	9759	broad.mit.edu	37	2	240029749	240029749	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:240029749G>A	ENST00000345617.3	-	15	2885	c.2094C>T	c.(2092-2094)tgC>tgT	p.C698C	HDAC4_ENST00000541256.1_Silent_p.C672C|HDAC4_ENST00000543185.1_Silent_p.C282C	NM_006037.3	NP_006028.2	P56524	HDAC4_HUMAN	histone deacetylase 4	698	Histone deacetylase.				B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent	histone deacetylase complex|transcriptional repressor complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|potassium ion binding|repressing transcription factor binding|zinc ion binding			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		GCGTTACCTCGCATTTGCCCC	0.672													10	8					0	0	1	0	0	A	240029749	G	A	240029749	2	1	81	1	0	0	0	0	0	0	0	1	7050	1079	38	1		1	HDAC4	2	240029749	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	843360	240029749	3169624	2662	6278											
HDAC4	9759	broad.mit.edu	37	2	240061441	240061441	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:240061441C>T	ENST00000345617.3	-	9	1708	c.917G>A	c.(916-918)aGc>aAc	p.S306N	HDAC4_ENST00000541256.1_Missense_Mutation_p.S275N|HDAC4_ENST00000543185.1_5'UTR|HDAC4_ENST00000553145.1_5'UTR	NM_006037.3	NP_006028.2	P56524	HDAC4_HUMAN	histone deacetylase 4	306	Interaction with MEF2A.				B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent	histone deacetylase complex|transcriptional repressor complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|potassium ion binding|repressing transcription factor binding|zinc ion binding			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		GCTCCCGGAGCTGTTGTTGGG	0.662													33	60					0	0	1	0	0	T	240061441	C	T	240061441	3	4	81	1	0	0	0	0	1	0	0	0	7050	797	28	2	2413	2	HDAC4	2	240061441	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	31692	240061441	3137932	2663	6279											
NDUFA10	4705	broad.mit.edu	37	2	240944661	240944661	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:240944661G>A	ENST00000252711.2	-	8	956	c.856C>T	c.(856-858)Cag>Tag	p.Q286*	NDUFA10_ENST00000307300.4_Nonsense_Mutation_p.Q316*|NDUFA10_ENST00000404554.1_Nonsense_Mutation_p.Q286*	NM_004544.3	NP_004535.1	O95299	NDUAA_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa	286					mitochondrial electron transport, NADH to ubiquinone|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transport	mitochondrial matrix|mitochondrial respiratory chain complex I	ATP binding|NADH dehydrogenase (ubiquinone) activity|phosphotransferase activity, alcohol group as acceptor			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)	16		all_epithelial(40;4.26e-15)|Breast(86;4.4e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0396)|Lung NSC(271;0.128)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(121;7.82e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.5e-13)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.39e-05)|Lung(119;0.00519)|LUSC - Lung squamous cell carcinoma(224;0.0202)	NADH(DB00157)	CGATTGTCCTGCTTGAGCCAC	0.458													10	93					0	0	1	0	0	A	240944661	G	A	240944661	4	1	81	1	0	0	0	0	0	1	0	0	10307	1328	46	2	223	2	NDUFA10	2	240944661	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	883220	240944661	2254712	2664	6280											
NDUFA10	4705	broad.mit.edu	37	2	240951043	240951043	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:240951043G>T	ENST00000252711.2	-	6	840	c.740C>A	c.(739-741)cCt>cAt	p.P247H	NDUFA10_ENST00000307300.4_Missense_Mutation_p.P277H|NDUFA10_ENST00000404554.1_Missense_Mutation_p.P247H	NM_004544.3	NP_004535.1	O95299	NDUAA_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa	247					mitochondrial electron transport, NADH to ubiquinone|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transport	mitochondrial matrix|mitochondrial respiratory chain complex I	ATP binding|NADH dehydrogenase (ubiquinone) activity|phosphotransferase activity, alcohol group as acceptor			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)	16		all_epithelial(40;4.26e-15)|Breast(86;4.4e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0396)|Lung NSC(271;0.128)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(121;7.82e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.5e-13)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.39e-05)|Lung(119;0.00519)|LUSC - Lung squamous cell carcinoma(224;0.0202)	NADH(DB00157)	CCTCATCTCAGGGAGAAAGGT	0.443													21	47					7.41877e-09	8.87549e-09	1	1	0	T	240951043	G	T	240951043	3	4	81	1	0	0	0	0	1	0	0	0	10307	1000	35	4	347	4	NDUFA10	2	240951043	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	6382	240951043	2248330	2665	6281											
NDUFA10	4705	broad.mit.edu	37	2	240961658	240961658	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:240961658C>G	ENST00000252711.2	-	2	275	c.175G>C	c.(175-177)Gtg>Ctg	p.V59L	NDUFA10_ENST00000307300.4_Missense_Mutation_p.V59L|NDUFA10_ENST00000404554.1_Missense_Mutation_p.V59L|NDUFA10_ENST00000407129.3_Missense_Mutation_p.V59L	NM_004544.3	NP_004535.1	O95299	NDUAA_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa	59					mitochondrial electron transport, NADH to ubiquinone|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transport	mitochondrial matrix|mitochondrial respiratory chain complex I	ATP binding|NADH dehydrogenase (ubiquinone) activity|phosphotransferase activity, alcohol group as acceptor			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)	16		all_epithelial(40;4.26e-15)|Breast(86;4.4e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0396)|Lung NSC(271;0.128)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(121;7.82e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.5e-13)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.39e-05)|Lung(119;0.00519)|LUSC - Lung squamous cell carcinoma(224;0.0202)	NADH(DB00157)	ACAGTTATCACTCTGCTGCGT	0.403													30	48					0	0	1	0	0	G	240961658	C	G	240961658	3	3	81	1	0	0	0	0	1	0	0	0	10307	565	20	4	928	4	NDUFA10	2	240961658	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	10615	240961658	2237715	2666	6282											
OR6B2	389090	broad.mit.edu	37	2	240969099	240969099	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:240969099C>T	ENST00000402971.2	-	1	807	c.748G>A	c.(748-750)Gtc>Atc	p.V250I		NM_001005853.1	NP_001005853.1	Q6IFH4	OR6B2_HUMAN	olfactory receptor, family 6, subfamily B, member 2	250					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(4)|lung(9)|prostate(1)	15		all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;3.4e-29)|all cancers(36;2.08e-27)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)		GTATAGAAGACGGTGACCACG	0.577													21	25					0	0	1	0	0	T	240969099	C	T	240969099	3	4	81	1	0	0	0	0	1	0	0	0	11235	536	19	1	192	1	OR6B2	2	240969099	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	7441	240969099	2230274	2667	6283											
GPC1	2817	broad.mit.edu	37	2	241398589	241398589	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:241398589G>T	ENST00000264039.2	+	2	557	c.309G>T	c.(307-309)caG>caT	p.Q103H		NM_002081.2	NP_002072.2	P35052	GPC1_HUMAN	glypican 1	103					axon guidance	anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	9		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;4.51e-33)|all cancers(36;1.74e-30)|OV - Ovarian serous cystadenocarcinoma(60;4.73e-15)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;9.1e-06)|Colorectal(34;0.000487)|Lung(119;0.0013)|LUSC - Lung squamous cell carcinoma(224;0.0154)|COAD - Colon adenocarcinoma(134;0.0194)|READ - Rectum adenocarcinoma(96;0.0949)		TTGCCACCCAGCTGCGCAGCT	0.706													5	11					0.000602214	0.000646338	1	1	0	T	241398589	G	T	241398589	3	4	81	1	0	0	0	0	1	0	0	0	6637	962	34	4	315	4	GPC1	2	241398589	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	429490	241398589	1800784	2668	6284											
RNPEPL1	57140	broad.mit.edu	37	2	241516172	241516172	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:241516172G>A	ENST00000270357.4	+	9	1631	c.1038G>A	c.(1036-1038)ccG>ccA	p.P346P	RNPEPL1_ENST00000464550.1_3'UTR	NM_018226.4	NP_060696.4	Q9HAU8	RNPL1_HUMAN	arginyl aminopeptidase (aminopeptidase B)-like 1						leukotriene biosynthetic process|proteolysis		aminopeptidase activity|metallopeptidase activity|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	13		all_epithelial(40;1.13e-11)|Breast(86;0.000169)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.204)|Melanoma(123;0.238)		Epithelial(32;3.05e-31)|all cancers(36;8.2e-29)|OV - Ovarian serous cystadenocarcinoma(60;8.55e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.12e-06)|Lung(119;0.00168)|Colorectal(34;0.005)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.0322)		ATGGGTCCCCGCTGCCGCAGG	0.692													17	25					0	0	1	0	0	A	241516172	G	A	241516172	2	1	81	1	0	0	0	0	0	0	0	1	13562	1074	38	1		1	RNPEPL1	2	241516172	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	117583	241516172	1683201	2669	6285											
CAPN10	11132	broad.mit.edu	37	2	241533978	241533978	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:241533978G>T	ENST00000391984.2	+	6	1045	c.849G>T	c.(847-849)caG>caT	p.Q283H	CAPN10_ENST00000391982.2_Missense_Mutation_p.Q283H|CAPN10_ENST00000352879.4_Intron|CAPN10_ENST00000270364.7_Intron|CAPN10_ENST00000354082.4_Missense_Mutation_p.Q283H|CAPN10_ENST00000404753.3_Missense_Mutation_p.Q283H	NM_023083.3	NP_075571	Q9HC96	CAN10_HUMAN	calpain 10	283	Calpain catalytic.				actin cytoskeleton reorganization|cellular response to insulin stimulus|positive regulation of apoptosis|positive regulation of glucose import|positive regulation of insulin secretion|positive regulation of intracellular transport|proteolysis	cytosol|plasma membrane	calcium-dependent cysteine-type endopeptidase activity|cytoskeletal protein binding|SNARE binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|urinary_tract(1)	27		all_epithelial(40;1.72e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.13e-31)|all cancers(36;3.24e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.82e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.1e-06)|Lung(119;0.00168)|Colorectal(34;0.00495)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.032)		GGTGGAGCCAGGTAGATGCAG	0.607													65	142					5.00936e-31	6.68504e-31	1	1	0	T	241533978	G	T	241533978	3	4	81	1	0	0	0	0	1	0	0	0	2641	991	35	4	871	4	CAPN10	2	241533978	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	17806	241533978	1665395	2670	6286											
CAPN10	11132	broad.mit.edu	37	2	241536168	241536168	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:241536168C>T	ENST00000391984.2	+	9	1748	c.1552C>T	c.(1552-1554)Cag>Tag	p.Q518*	CAPN10_ENST00000352879.4_Intron|CAPN10_ENST00000270364.7_Intron|CAPN10_ENST00000354082.4_Intron|CAPN10_ENST00000404753.3_Nonsense_Mutation_p.Q518*	NM_023083.3	NP_075571	Q9HC96	CAN10_HUMAN	calpain 10	518	Domain III 2.				actin cytoskeleton reorganization|cellular response to insulin stimulus|positive regulation of apoptosis|positive regulation of glucose import|positive regulation of insulin secretion|positive regulation of intracellular transport|proteolysis	cytosol|plasma membrane	calcium-dependent cysteine-type endopeptidase activity|cytoskeletal protein binding|SNARE binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|urinary_tract(1)	27		all_epithelial(40;1.72e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.13e-31)|all cancers(36;3.24e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.82e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.1e-06)|Lung(119;0.00168)|Colorectal(34;0.00495)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.032)		GGGGACCGTGCAGCTACGGGG	0.677													6	55					0	0	1	0	0	T	241536168	C	T	241536168	4	4	81	1	0	0	0	0	0	1	0	0	2641	711	25	2	1586	2	CAPN10	2	241536168	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2190	241536168	1663205	2671	6287											
CAPN10	11132	broad.mit.edu	37	2	241537381	241537381	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:241537381G>A	ENST00000391984.2	+	10	2016	c.1820G>A	c.(1819-1821)cGc>cAc	p.R607H	CAPN10_ENST00000352879.4_Missense_Mutation_p.R73H|CAPN10_ENST00000270364.7_Intron|CAPN10_ENST00000354082.4_Missense_Mutation_p.R452H|CAPN10_ENST00000404753.3_Missense_Mutation_p.R607H	NM_023083.3	NP_075571	Q9HC96	CAN10_HUMAN	calpain 10	607	Domain III 2.				actin cytoskeleton reorganization|cellular response to insulin stimulus|positive regulation of apoptosis|positive regulation of glucose import|positive regulation of insulin secretion|positive regulation of intracellular transport|proteolysis	cytosol|plasma membrane	calcium-dependent cysteine-type endopeptidase activity|cytoskeletal protein binding|SNARE binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|urinary_tract(1)	27		all_epithelial(40;1.72e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.13e-31)|all cancers(36;3.24e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.82e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.1e-06)|Lung(119;0.00168)|Colorectal(34;0.00495)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.032)		GTGCCACATCGCTACGCCCAG	0.667													10	9					0	0	1	0	0	A	241537381	G	A	241537381	3	1	81	1	0	0	0	0	1	0	0	0	2641	1087	38	1	1858	1	CAPN10	2	241537381	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1213	241537381	1661992	2672	6288											
KIF1A	547	broad.mit.edu	37	2	241676556	241676556	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:241676556C>T	ENST00000498729.2	-	38	4177	c.3931G>A	c.(3931-3933)Gag>Aag	p.E1311K	KIF1A_ENST00000320389.7_Missense_Mutation_p.E1210K	NM_001244008.1	NP_001230937.1	Q12756	KIF1A_HUMAN	kinesin family member 1A	1210					anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		ATCAGGGACTCGTCGGTCTCT	0.612													36	70					0	0	1	0	0	T	241676556	C	T	241676556	3	4	81	1	0	0	0	0	1	0	0	0	8325	893	31	1	1492	1	KIF1A	2	241676556	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	139175	241676556	1522817	2673	6289											
KIF1A	547	broad.mit.edu	37	2	241685311	241685311	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:241685311C>T	ENST00000498729.2	-	31	3464	c.3218G>A	c.(3217-3219)gGc>gAc	p.G1073D	KIF1A_ENST00000320389.7_Missense_Mutation_p.G972D	NM_001244008.1	NP_001230937.1	Q12756	KIF1A_HUMAN	kinesin family member 1A	972					anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		TAGGAGGAGGCCTTCTGGGGG	0.632													12	9					0	0	1	0	0	T	241685311	C	T	241685311	3	4	81	1	0	0	0	0	1	0	0	0	8325	739	26	2	2233	2	KIF1A	2	241685311	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	8755	241685311	1514062	2674	6290											
KIF1A	547	broad.mit.edu	37	2	241722503	241722503	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:241722503C>T	ENST00000498729.2	-	9	1068	c.822G>A	c.(820-822)tcG>tcA	p.S274S	KIF1A_ENST00000320389.7_Silent_p.S274S	NM_001244008.1	NP_001230937.1	Q12756	KIF1A_HUMAN	kinesin family member 1A	274	Kinesin-motor.				anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		GGGTGGTCAGCGACTTGTTGA	0.652													22	38					0	0	1	0	0	T	241722503	C	T	241722503	2	4	81	1	0	0	0	0	0	0	0	1	8325	755	27	1		1	KIF1A	2	241722503	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	37192	241722503	1476870	2675	6291											
AGXT	189	broad.mit.edu	37	2	241815387	241815387	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:241815387G>A	ENST00000307503.3	+	8	1199	c.812G>A	c.(811-813)aGc>aAc	p.S271N		NM_000030.2	NP_000021.1	P21549	SPYA_HUMAN	alanine-glyoxylate aminotransferase	271					glyoxylate metabolic process|protein targeting to peroxisome	mitochondrial matrix|peroxisomal matrix	alanine-glyoxylate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|serine-pyruvate transaminase activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)	18		all_epithelial(40;1.61e-15)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)	Glycine(DB00145)|L-Alanine(DB00160)|L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	AGCCTGTACAGCCTGAGAGAG	0.632													4	15					0	0	1	0	0	A	241815387	G	A	241815387	3	1	81	1	0	0	0	0	1	0	0	0	401	971	34	2	842	2	AGXT	2	241815387	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	92884	241815387	1383986	2676	6292											
AGXT	189	broad.mit.edu	37	2	241817440	241817440	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:241817440C>T	ENST00000307503.3	+	10	1331	c.944C>T	c.(943-945)gCg>gTg	p.A315V		NM_000030.2	NP_000021.1	P21549	SPYA_HUMAN	alanine-glyoxylate aminotransferase	315					glyoxylate metabolic process|protein targeting to peroxisome	mitochondrial matrix|peroxisomal matrix	alanine-glyoxylate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|serine-pyruvate transaminase activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)	18		all_epithelial(40;1.61e-15)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)	Glycine(DB00145)|L-Alanine(DB00160)|L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	CTCCTGCAGGCGCTCCGGCTT	0.602													14	21					0	0	1	0	0	T	241817440	C	T	241817440	5	4	81	1	0	0	0	0	0	0	1	0	401	782	27	1	982	1	AGXT	2	241817440	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2053	241817440	1381933	2677	6293											
C2orf54	79919	broad.mit.edu	37	2	241835229	241835229	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:241835229G>T	ENST00000388934.4	-	1	344	c.186C>A	c.(184-186)tcC>tcA	p.S62S		NM_001085437.1	NP_001078906	Q08AI8	CB054_HUMAN	chromosome 2 open reading frame 54	62										haematopoietic_and_lymphoid_tissue(1)|lung(4)|prostate(1)	6		all_epithelial(40;3.99e-16)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)		CCAGGCCACGGGAGTAGTCCA	0.662													12	24					3.07112e-06	3.5041e-06	1	1	0	T	241835229	G	T	241835229	2	4	81	1	0	0	0	0	0	0	0	1	2189	1219	43	5		5	C2orf54	2	241835229	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	17789	241835229	1364144	2678	6294											
SNED1	25992	broad.mit.edu	37	2	242021117	242021117	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:242021117C>T	ENST00000310397.8	+	28	3942	c.3942C>T	c.(3940-3942)aaC>aaT	p.N1314N	MTERFD2_ENST00000464344.2_Intron|SNED1_ENST00000342631.6_Silent_p.N1281N|SNED1_ENST00000405547.3_Silent_p.N1281N	NM_001080437.1	NP_001073906.1	Q8TER0	SNED1_HUMAN	sushi, nidogen and EGF-like domains 1	1314	EGF-like 15.				cell-matrix adhesion	extracellular region	calcium ion binding			NS(1)|breast(1)|central_nervous_system(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	24		all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109)		GTTCAGAAAACCCCTGTCAGA	0.607													4	4					0	0	1	0	0	T	242021117	C	T	242021117	2	4	81	1	0	0	0	0	0	0	0	1	14899	506	18	2		2	SNED1	2	242021117	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	185888	242021117	1178256	2679	6295											
PASK	23178	broad.mit.edu	37	2	242046007	242046007	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:242046007C>T	ENST00000405260.1	-	18	4644	c.3946G>A	c.(3946-3948)Ggg>Agg	p.G1316R	PASK_ENST00000539818.1_Missense_Mutation_p.G1100R|PASK_ENST00000358649.4_Missense_Mutation_p.G1323R|PASK_ENST00000544142.1_Missense_Mutation_p.G1130R|PASK_ENST00000234040.4_Missense_Mutation_p.G1316R	NM_001252120.1	NP_001239049.1	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	1316					regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		CGGGGATCCCCGGGATGCAAA	0.552													52	98					0	0	1	0	0	T	242046007	C	T	242046007	3	4	81	1	0	0	0	0	1	0	0	0	11519	652	23	1	29	1	PASK	2	242046007	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	24890	242046007	1153366	2680	6296											
PASK	23178	broad.mit.edu	37	2	242054372	242054372	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:242054372C>T	ENST00000403638.3	-	14	3510	c.3419G>A	c.(3418-3420)cGg>cAg	p.R1140Q	PASK_ENST00000539818.1_Intron|PASK_ENST00000358649.4_Intron|PASK_ENST00000544142.1_Intron|PASK_ENST00000234040.4_Intron|PASK_ENST00000405260.1_Intron	NM_001252124.1	NP_001239053.1	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	0	Protein kinase.				regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		GAGAGAGAACCGAGTATGGAT	0.478													45	54					0	0	1	0	0	T	242054372	C	T	242054372	3	4	81	1	0	0	0	0	1	0	0	0	11519	667	23	1		1	PASK	2	242054372	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	8365	242054372	1145001	2681	6297											
PASK	23178	broad.mit.edu	37	2	242062244	242062244	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:242062244T>G	ENST00000403638.3	-	12	3066	c.2975A>C	c.(2974-2976)gAg>gCg	p.E992A	PASK_ENST00000539818.1_Missense_Mutation_p.E776A|PASK_ENST00000358649.4_Missense_Mutation_p.E992A|PASK_ENST00000544142.1_Missense_Mutation_p.E806A|PASK_ENST00000234040.4_Missense_Mutation_p.E992A|PASK_ENST00000405260.1_Missense_Mutation_p.E992A	NM_001252124.1	NP_001239053.1	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	992					regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		GTACTCGCCCTCACAGGCCGC	0.587													5	42					0	0	1	0	0	G	242062244	T	G	242062244	3	3	81	1	0	0	0	0	1	0	0	0	11519	1551	54	5	1024	5	PASK	2	242062244	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	7872	242062244	1137129	2682	6298											
PASK	23178	broad.mit.edu	37	2	242065692	242065692	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:242065692G>A	ENST00000403638.3	-	10	2729	c.2638C>T	c.(2638-2640)Cgc>Tgc	p.R880C	PASK_ENST00000539818.1_Missense_Mutation_p.R664C|PASK_ENST00000358649.4_Missense_Mutation_p.R880C|PASK_ENST00000544142.1_Missense_Mutation_p.R694C|PASK_ENST00000234040.4_Missense_Mutation_p.R880C|PASK_ENST00000405260.1_Missense_Mutation_p.R880C	NM_001252124.1	NP_001239053.1	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	880					regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		GCAGCCCCGCGCATCACGATC	0.642													9	71					0	0	1	0	0	A	242065692	G	A	242065692	3	1	81	1	0	0	0	0	1	0	0	0	11519	1087	38	1	1369	1	PASK	2	242065692	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	3448	242065692	1133681	2683	6299											
PASK	23178	broad.mit.edu	37	2	242066235	242066235	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:242066235G>A	ENST00000403638.3	-	10	2186	c.2095C>T	c.(2095-2097)Ctg>Ttg	p.L699L	PASK_ENST00000539818.1_Silent_p.L483L|PASK_ENST00000358649.4_Silent_p.L699L|PASK_ENST00000544142.1_Silent_p.L513L|PASK_ENST00000234040.4_Silent_p.L699L|PASK_ENST00000405260.1_Silent_p.L699L	NM_001252124.1	NP_001239053.1	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	699					regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		CTGCCTCCCAGATCGCAGGAC	0.667													33	54					0	0	1	0	0	A	242066235	G	A	242066235	2	1	81	1	0	0	0	0	0	0	0	1	11519	933	33	2		2	PASK	2	242066235	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	543	242066235	1133138	2684	6300											
PASK	23178	broad.mit.edu	37	2	242075446	242075446	+	Silent	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:242075446A>C	ENST00000403638.3	-	8	1237	c.1146T>G	c.(1144-1146)acT>acG	p.T382T	PASK_ENST00000539818.1_Silent_p.T166T|PASK_ENST00000358649.4_Silent_p.T382T|PASK_ENST00000544142.1_Silent_p.T196T|PASK_ENST00000234040.4_Silent_p.T382T|PASK_ENST00000405260.1_Silent_p.T382T	NM_001252124.1	NP_001239053.1	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	382	PAS 2.				regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		GAATCAGGAAAGTGATATTCT	0.532													48	66					0	0	1	0	0	C	242075446	A	C	242075446	2	2	81	1	0	0	0	0	0	0	0	1	11519	59	3	5		5	PASK	2	242075446	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	9211	242075446	1123927	2685	6301											
PASK	23178	broad.mit.edu	37	2	242076463	242076463	+	Missense_Mutation	SNP	C	C	T	rs145134713		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:242076463C>T	ENST00000403638.3	-	7	1184	c.1093G>A	c.(1093-1095)Gcg>Acg	p.A365T	PASK_ENST00000539818.1_Missense_Mutation_p.A149T|PASK_ENST00000358649.4_Missense_Mutation_p.A365T|PASK_ENST00000544142.1_Missense_Mutation_p.A179T|PASK_ENST00000234040.4_Missense_Mutation_p.A365T|PASK_ENST00000405260.1_Missense_Mutation_p.A365T	NM_001252124.1	NP_001239053.1	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	365	PAS 2.				regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		AGTGTCAGCGCGAAGCTGTGG	0.632													18	32					0	0	1	0	0	T	242076463	C	T	242076463	3	4	81	1	0	0	0	0	1	0	0	0	11519	768	27	1	2926	1	PASK	2	242076463	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1017	242076463	1122910	2686	6302											
PPP1R7	5510	broad.mit.edu	37	2	242097264	242097264	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:242097264A>T	ENST00000234038.6	+	3	698	c.224A>T	c.(223-225)gAc>gTc	p.D75V	PPP1R7_ENST00000407025.1_Missense_Mutation_p.D75V|PPP1R7_ENST00000404405.3_Missense_Mutation_p.D75V|PPP1R7_ENST00000272983.8_Missense_Mutation_p.D32V|PPP1R7_ENST00000406106.3_Missense_Mutation_p.D75V|PPP1R7_ENST00000485630.1_3'UTR|PPP1R7_ENST00000402734.1_Missense_Mutation_p.D16V|PPP1R7_ENST00000401987.1_Missense_Mutation_p.D32V	NM_001282412.1|NM_001282413.1|NM_002712.1	NP_001269341.1|NP_001269342.1|NP_002703.1	Q15435	PP1R7_HUMAN	protein phosphatase 1, regulatory subunit 7	75						cytoplasm|nucleus	protein binding|protein phosphatase type 1 regulator activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)	23		all_cancers(19;6.1e-33)|all_epithelial(40;1.07e-13)|Breast(86;0.000141)|Renal(207;0.00528)|all_lung(227;0.0446)|Ovarian(221;0.104)|Lung NSC(271;0.115)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.92e-32)|all cancers(36;5.35e-29)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-14)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.24e-08)|BRCA - Breast invasive adenocarcinoma(100;3.56e-06)|Lung(119;0.000588)|LUSC - Lung squamous cell carcinoma(224;0.0048)|Colorectal(34;0.0137)|COAD - Colon adenocarcinoma(134;0.096)		ATCAACCTGGACAGAGATGCA	0.473													9	13					0	0	1	0	0	T	242097264	A	T	242097264	3	4	81	1	0	0	0	0	1	0	0	0	12425	275	10	5	234	5	PPP1R7	2	242097264	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	20801	242097264	1102109	2687	6303											
PPP1R7	5510	broad.mit.edu	37	2	242102714	242102714	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:242102714C>T	ENST00000234038.6	+	7	1086	c.612C>T	c.(610-612)atC>atT	p.I204I	PPP1R7_ENST00000407025.1_Silent_p.I204I|PPP1R7_ENST00000404405.3_Silent_p.I198I|PPP1R7_ENST00000272983.8_Silent_p.I161I|PPP1R7_ENST00000406106.3_Silent_p.I204I|PPP1R7_ENST00000485630.1_3'UTR|PPP1R7_ENST00000402734.1_Silent_p.I145I|PPP1R7_ENST00000401987.1_Silent_p.I161I	NM_001282412.1|NM_001282413.1|NM_002712.1	NP_001269341.1|NP_001269342.1|NP_002703.1	Q15435	PP1R7_HUMAN	protein phosphatase 1, regulatory subunit 7	204						cytoplasm|nucleus	protein binding|protein phosphatase type 1 regulator activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)	23		all_cancers(19;6.1e-33)|all_epithelial(40;1.07e-13)|Breast(86;0.000141)|Renal(207;0.00528)|all_lung(227;0.0446)|Ovarian(221;0.104)|Lung NSC(271;0.115)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.92e-32)|all cancers(36;5.35e-29)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-14)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.24e-08)|BRCA - Breast invasive adenocarcinoma(100;3.56e-06)|Lung(119;0.000588)|LUSC - Lung squamous cell carcinoma(224;0.0048)|Colorectal(34;0.0137)|COAD - Colon adenocarcinoma(134;0.096)		TCGAAAATATCGACACCTTAA	0.502													96	180					0	0	1	0	0	T	242102714	C	T	242102714	2	4	81	1	0	0	0	0	0	0	0	1	12425	874	31	1		1	PPP1R7	2	242102714	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	5450	242102714	1096659	2688	6304											
PPP1R7	5510	broad.mit.edu	37	2	242122067	242122067	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:242122067C>T	ENST00000234038.6	+	10	1386	c.912C>T	c.(910-912)aaC>aaT	p.N304N	PPP1R7_ENST00000407025.1_Silent_p.N304N|PPP1R7_ENST00000272983.8_Silent_p.N261N	NM_001282412.1|NM_001282413.1|NM_002712.1	NP_001269341.1|NP_001269342.1|NP_002703.1	Q15435	PP1R7_HUMAN	protein phosphatase 1, regulatory subunit 7	304						cytoplasm|nucleus	protein binding|protein phosphatase type 1 regulator activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)	23		all_cancers(19;6.1e-33)|all_epithelial(40;1.07e-13)|Breast(86;0.000141)|Renal(207;0.00528)|all_lung(227;0.0446)|Ovarian(221;0.104)|Lung NSC(271;0.115)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.92e-32)|all cancers(36;5.35e-29)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-14)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.24e-08)|BRCA - Breast invasive adenocarcinoma(100;3.56e-06)|Lung(119;0.000588)|LUSC - Lung squamous cell carcinoma(224;0.0048)|Colorectal(34;0.0137)|COAD - Colon adenocarcinoma(134;0.096)		CCCAGATGAACGACAATCTCC	0.597													14	40					0	0	1	0	0	T	242122067	C	T	242122067	2	4	81	1	0	0	0	0	0	0	0	1	12425	535	19	1		1	PPP1R7	2	242122067	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	19353	242122067	1077306	2689	6305											
SEPT2	4735	broad.mit.edu	37	2	242287575	242287575	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:242287575A>G	ENST00000391973.2	+	11	1481	c.953A>G	c.(952-954)aAa>aGa	p.K318R	SEPT2_ENST00000391971.2_Missense_Mutation_p.K318R|SEPT2_ENST00000360051.3_Missense_Mutation_p.K318R|SEPT2_ENST00000407971.1_Missense_Mutation_p.K278R|SEPT2_ENST00000402092.2_Missense_Mutation_p.K318R|SEPT2_ENST00000401990.1_Missense_Mutation_p.K328R	NM_006155.1	NP_006146.1	Q15019	SEPT2_HUMAN	septin 2	318					cell division|mitosis	actin cytoskeleton|cleavage furrow|condensed chromosome kinetochore|midbody|nucleolus|septin complex|spindle	GTP binding			central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)	12		all_cancers(19;7.62e-41)|all_epithelial(40;1.71e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.24e-34)|all cancers(36;7.15e-32)|OV - Ovarian serous cystadenocarcinoma(60;1.21e-15)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;3.16e-06)|Lung(119;7.81e-05)|LUSC - Lung squamous cell carcinoma(224;0.000742)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0889)		GACATGAATAAAGACCAGATC	0.373													10	82					0	0	1	0	0	G	242287575	A	G	242287575	3	3	81	1	0	0	0	0	1	0	0	0	14118	14	1	3	991	3	SEPT2	2	242287575	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	165508	242287575	911798	2690	6306											
FARP2	9855	broad.mit.edu	37	2	242402851	242402851	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:242402851C>T	ENST00000264042.3	+	16	1949	c.1779C>T	c.(1777-1779)ttC>ttT	p.F593F	FARP2_ENST00000373287.4_Silent_p.F593F|FARP2_ENST00000545004.1_Silent_p.F593F	NM_014808.2	NP_055623.1	O94887	FARP2_HUMAN	FERM, RhoGEF and pleckstrin domain protein 2	593	DH.				axon guidance|neuron remodeling|Rac protein signal transduction|regulation of Rho protein signal transduction	cytoskeleton|cytosol|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity	p.F593L(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	43		all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121)		ACAGAGGCTTCCTGCGCGAGG	0.587													25	20					0	0	1	0	0	T	242402851	C	T	242402851	2	4	81	1	0	0	0	0	0	0	0	1	5710	854	30	2		2	FARP2	2	242402851	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	115276	242402851	796522	2691	6307											
STK25	10494	broad.mit.edu	37	2	242439588	242439588	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:242439588C>A	ENST00000316586.4	-	5	776	c.427G>T	c.(427-429)Gct>Tct	p.A143S	STK25_ENST00000405585.1_Splice_Site_p.A66S|STK25_ENST00000401869.1_Splice_Site_p.A143S|STK25_ENST00000405883.3_Splice_Site_p.A66S|STK25_ENST00000543554.1_Splice_Site_p.A49S|STK25_ENST00000403346.3_Splice_Site_p.A143S|STK25_ENST00000535007.1_Splice_Site_p.A49S	NM_001271977.1|NM_001271978.1|NM_001282308.1	NP_001258906.1|NP_001258907.1|NP_001269237.1	O00506	STK25_HUMAN	serine/threonine kinase 25	143	Protein kinase.				response to oxidative stress|signal transduction	Golgi apparatus	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			breast(1)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	10		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)		Epithelial(32;8.24e-34)|all cancers(36;3.46e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.6e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.1e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0839)		CCAGCAGGACCTTTGATGTCT	0.597													6	37					0.0215528	0.0221217	1	1	0	A	242439588	C	A	242439588	5	1	81	1	0	0	0	0	0	0	1	0	15350	695	24	4	885	4	STK25	2	242439588	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	36737	242439588	759785	2692	6308											
THAP4	51078	broad.mit.edu	37	2	242542409	242542409	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:242542409C>T	ENST00000407315.1	-	4	1917	c.1486G>A	c.(1486-1488)Gcc>Acc	p.A496T	THAP4_ENST00000402136.1_Missense_Mutation_p.A84T|THAP4_ENST00000497486.1_5'UTR|THAP4_ENST00000402545.1_Missense_Mutation_p.A84T	NM_015963.5	NP_057047.4	Q8WY91	THAP4_HUMAN	THAP domain containing 4	496							DNA binding|metal ion binding			kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	9		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)		Epithelial(32;2.3e-33)|all cancers(36;8.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.68e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0844)		CTGACAAAGGCCACCTTGTTG	0.632													23	33					0	0	1	0	0	T	242542409	C	T	242542409	3	4	81	1	0	0	0	0	1	0	0	0	15906	739	26	2	259	2	THAP4	2	242542409	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	102821	242542409	656964	2693	6309											
ING5	84289	broad.mit.edu	37	2	242662453	242662453	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:242662453C>A	ENST00000313552.6	+	6	608	c.582C>A	c.(580-582)gtC>gtA	p.V194V	ING5_ENST00000406941.1_Silent_p.V194V	NM_032329.4	NP_115705.2	Q8WYH8	ING5_HUMAN	inhibitor of growth family, member 5	194					DNA replication|histone H3 acetylation|negative regulation of cell proliferation|negative regulation of growth|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex	protein binding|zinc ion binding			large_intestine(1)|lung(1)|skin(1)	3		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;2.16e-33)|all cancers(36;4.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.6e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0839)		GCCACCAGGTCTCCTATGGGG	0.612													7	47					8.12818e-05	8.94031e-05	1	1	0	A	242662453	C	A	242662453	2	1	81	1	0	0	0	0	0	0	0	1	7783	900	32	4		4	ING5	2	242662453	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	120044	242662453	536920	2694	6310											
NEU4	129807	broad.mit.edu	37	2	242757436	242757436	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:242757436C>T	ENST00000391969.2	+	5	1228	c.517C>T	c.(517-519)Ctg>Ttg	p.L173L	NEU4_ENST00000325935.6_Silent_p.L186L|NEU4_ENST00000404257.1_Silent_p.L185L|NEU4_ENST00000405370.1_Silent_p.L173L|NEU4_ENST00000407683.1_Silent_p.L173L	NM_001167602.1	NP_001161074.1	Q8WWR8	NEUR4_HUMAN	sialidase 4	173						lysosomal lumen|organelle inner membrane	exo-alpha-sialidase activity|protein binding			breast(1)|lung(10)|prostate(2)|skin(2)	15		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0825)		AGGCCGCCTGCTGGTACCCGC	0.677													4	9					0	0	1	0	0	T	242757436	C	T	242757436	2	4	81	1	0	0	0	0	0	0	0	1	10391	796	28	2		2	NEU4	2	242757436	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	94983	242757436	441937	2695	6311											
CHL1	10752	broad.mit.edu	37	3	447371	447371	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:447371G>T	ENST00000256509.2	+	28	4294	c.3652G>T	c.(3652-3654)Gca>Tca	p.A1218S	CHL1_ENST00000397491.2_Missense_Mutation_p.A1202S	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	O00533	CHL1_HUMAN	cell adhesion molecule L1-like	1202					axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix				NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		AAGTTCTACAGCAACTTTTCC	0.438													30	33					1.22384e-17	1.58083e-17	1	1	0	T	447371	G	T	447371	3	4	81	1	0	0	0	0	1	0	0	0	3371	971	34	4	3754	4	CHL1	3	447371	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08		447371	197575059	2696	6312											
CNTN6	27255	broad.mit.edu	37	3	1425035	1425035	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:1425035G>T	ENST00000446702.2	+	19	3087	c.2460G>T	c.(2458-2460)gaG>gaT	p.E820D	CNTN6_ENST00000539053.1_Missense_Mutation_p.E748D|CNTN6_ENST00000350110.2_Missense_Mutation_p.E820D			Q9UQ52	CNTN6_HUMAN	contactin 6	820	Fibronectin type-III 3.				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		CTGAAATGGAGGTTTCATGGA	0.433													18	226					2.35188e-11	2.91332e-11	1	1	0	T	1425035	G	T	1425035	3	4	81	1	0	0	0	0	1	0	0	0	3668	991	35	4	2530	4	CNTN6	3	1425035	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	977664	1425035	196597395	2697	6313											
CNTN4	152330	broad.mit.edu	37	3	3078900	3078900	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:3078900C>T	ENST00000397461.1	+	17	2364	c.1980C>T	c.(1978-1980)acC>acT	p.T660T	CNTN4_ENST00000427331.1_Silent_p.T660T|CNTN4_ENST00000397459.2_Silent_p.T332T|CNTN4_ENST00000448906.2_Silent_p.T332T|CNTN4_ENST00000358480.3_Silent_p.T441T|CNTN4_ENST00000418658.1_Silent_p.T660T	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	660	Fibronectin type-III 1.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		TCACAGCGACCGTGGTGGGTT	0.498													80	108					0	0	1	0	0	T	3078900	C	T	3078900	2	4	81	1	0	0	0	0	0	0	0	1	3666	639	23	1		1	CNTN4	3	3078900	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1653865	3078900	194943530	2698	6314											
CNTN4	152330	broad.mit.edu	37	3	3095607	3095607	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:3095607C>T	ENST00000397461.1	+	23	3312	c.2928C>T	c.(2926-2928)agC>agT	p.S976S	CNTN4-AS1_ENST00000442749.2_RNA|CNTN4_ENST00000427331.1_Silent_p.S976S|CNTN4_ENST00000397459.2_Silent_p.S648S|CNTN4_ENST00000448906.2_Silent_p.S648S|CNTN4_ENST00000358480.3_Silent_p.S757S|CNTN4_ENST00000418658.1_Silent_p.S976S	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	976	Fibronectin type-III 4.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		AGCCATTCAGCGACGGAGGAG	0.388													18	35					0	0	1	0	0	T	3095607	C	T	3095607	2	4	81	1	0	0	0	0	0	0	0	1	3666	767	27	1		1	CNTN4	3	3095607	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	16707	3095607	194926823	2699	6315											
IL5RA	3568	broad.mit.edu	37	3	3118281	3118281	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:3118281C>A	ENST00000446632.2	-	10	1599	c.1025G>T	c.(1024-1026)tGg>tTg	p.W342L	IL5RA_ENST00000418488.2_Missense_Mutation_p.W247L|IL5RA_ENST00000445864.2_Missense_Mutation_p.W133L|IL5RA_ENST00000256452.3_Missense_Mutation_p.W342L|IL5RA_ENST00000438560.1_Missense_Mutation_p.W342L	NM_175726.3	NP_783853.1	Q01344	IL5RA_HUMAN	interleukin 5 receptor, alpha	342					cell proliferation	extracellular space|integral to membrane|plasma membrane	interleukin-5 receptor activity			cervix(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	24				Epithelial(13;0.00278)|all cancers(10;0.00809)|OV - Ovarian serous cystadenocarcinoma(96;0.00944)		AATGACAAACCACTCTCTCAA	0.363													5	52					0.00116845	0.00124301	1	1	0	A	3118281	C	A	3118281	3	1	81	1	0	0	0	0	1	0	0	0	7744	595	21	5	249	5	IL5RA	3	3118281	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	22674	3118281	194904149	2700	6316											
CRBN	51185	broad.mit.edu	37	3	3214594	3214594	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:3214594C>A	ENST00000231948.4	-	4	415	c.393G>T	c.(391-393)agG>agT	p.R131S	CRBN_ENST00000432408.2_Missense_Mutation_p.R130S	NM_016302.3	NP_057386.2	Q96SW2	CRBN_HUMAN	cereblon	131	Lon.				proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination	Cul4A-RING ubiquitin ligase complex|cytoplasm|membrane|nucleus	ATP-dependent peptidase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	11				Epithelial(13;0.00244)|OV - Ovarian serous cystadenocarcinoma(96;0.00617)|all cancers(10;0.0079)		ACTGTGCTTCCCTTTCCTGTA	0.338													33	86					1.62565e-12	2.03459e-12	1	1	0	A	3214594	C	A	3214594	3	1	81	1	0	0	0	0	1	0	0	0	3874	622	22	5	967	5	CRBN	3	3214594	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	96313	3214594	194807836	2701	6317											
LRRN1	57633	broad.mit.edu	37	3	3886579	3886579	+	Missense_Mutation	SNP	C	C	T	rs150075361		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:3886579C>T	ENST00000319331.3	+	2	1015	c.254C>T	c.(253-255)gCa>gTa	p.A85V	SUMF1_ENST00000534863.1_Intron	NM_020873.5	NP_065924.3	Q6UXK5	LRRN1_HUMAN	leucine rich repeat neuronal 1	85						integral to membrane				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	26				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)		AATAACATCGCAAAGACTGTG	0.448													8	43					0	0	1	0	0	T	3886579	C	T	3886579	3	4	81	1	0	0	0	0	1	0	0	0	9079	710	25	2	256	2	LRRN1	3	3886579	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	671985	3886579	194135851	2702	6318											
LRRN1	57633	broad.mit.edu	37	3	3887498	3887498	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:3887498C>T	ENST00000319331.3	+	2	1934	c.1173C>T	c.(1171-1173)ttC>ttT	p.F391F	SUMF1_ENST00000534863.1_Intron	NM_020873.5	NP_065924.3	Q6UXK5	LRRN1_HUMAN	leucine rich repeat neuronal 1	391	LRRCT.					integral to membrane				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	26				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)		ACATCCGCTTCATGGAGCCCC	0.502													6	65					0	0	1	0	0	T	3887498	C	T	3887498	2	4	81	1	0	0	0	0	0	0	0	1	9079	825	29	2		2	LRRN1	3	3887498	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	919	3887498	194134932	2703	6319											
LRRN1	57633	broad.mit.edu	37	3	3888446	3888446	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:3888446C>T	ENST00000319331.3	+	2	2882	c.2121C>T	c.(2119-2121)gtC>gtT	p.V707V	SUMF1_ENST00000534863.1_Intron	NM_020873.5	NP_065924.3	Q6UXK5	LRRN1_HUMAN	leucine rich repeat neuronal 1	707						integral to membrane				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	26				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)		CAACCCAGGTCGACACATCCA	0.448													13	15					0	0	1	0	0	T	3888446	C	T	3888446	2	4	81	1	0	0	0	0	0	0	0	1	9079	871	31	1		1	LRRN1	3	3888446	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	948	3888446	194133984	2704	6320											
LRRN1	57633	broad.mit.edu	37	3	3888474	3888474	+	Nonstop_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:3888474T>C	ENST00000319331.3	+	2	2910	c.2149T>C	c.(2149-2151)Taa>Caa	p.*717Q	SUMF1_ENST00000534863.1_Intron	NM_020873.5	NP_065924.3	Q6UXK5	LRRN1_HUMAN	leucine rich repeat neuronal 1	0						integral to membrane				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	26				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)		TTACATGTGGTAACTCAGAGG	0.413													10	12					0	0	1	0	0	C	3888474	T	C	3888474	4	2	81	1	0	0	0	0	0	0	0	0	9079	1651	57	3	2151	3	LRRN1	3	3888474	Nonstop_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	28	3888474	194133956	2705	6321											
SETMAR	6419	broad.mit.edu	37	3	4355208	4355208	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:4355208T>G	ENST00000358065.4	+	2	850	c.783T>G	c.(781-783)gaT>gaG	p.D261E	SETMAR_ENST00000425863.1_Intron|SETMAR_ENST00000430981.1_Missense_Mutation_p.D261E|SUMF1_ENST00000534863.1_Intron	NM_006515.3	NP_006506.3	Q53H47	SETMR_HUMAN	SET domain and mariner transposase fusion gene	248	Histone-lysine N-methyltransferase.				DNA integration|DNA repair|transposition, DNA-mediated	chromosome|nucleus	DNA binding|endonuclease activity|histone-lysine N-methyltransferase activity|transposase activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)	9		Melanoma(143;0.0657)		Epithelial(13;0.0025)|OV - Ovarian serous cystadenocarcinoma(96;0.011)|all cancers(10;0.0114)		TCTCTTATGATTATTCAGGAA	0.383								Chromatin Structure					14	38					0	0	1	0	0	G	4355208	T	G	4355208	3	3	81	1	0	0	0	0	1	0	0	0	14194	1490	52	4	789	4	SETMAR	3	4355208	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	466734	4355208	193667222	2706	6322											
SETMAR	6419	broad.mit.edu	37	3	4355498	4355498	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:4355498G>A	ENST00000430981.1	+	2	1083	c.1073G>A	c.(1072-1074)tGg>tAg	p.W358*	SETMAR_ENST00000425863.1_Intron|SUMF1_ENST00000534863.1_Intron|SETMAR_ENST00000358065.4_Intron	NM_001276325.1	NP_001263254.1	Q53H47	SETMR_HUMAN	SET domain and mariner transposase fusion gene	0	Mariner transposase Hsmar1.				DNA integration|DNA repair|transposition, DNA-mediated	chromosome|nucleus	DNA binding|endonuclease activity|histone-lysine N-methyltransferase activity|transposase activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)	9		Melanoma(143;0.0657)		Epithelial(13;0.0025)|OV - Ovarian serous cystadenocarcinoma(96;0.011)|all cancers(10;0.0114)		GGAAGACAGTGGTTGGCTAGC	0.493								Chromatin Structure					3	36					0	0	1	0	0	A	4355498	G	A	4355498	4	1	81	1	0	0	0	0	0	1	0	0	14194	1363	47	2		2	SETMAR	3	4355498	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	290	4355498	193666932	2707	6323											
ITPR1	3708	broad.mit.edu	37	3	4716021	4716021	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:4716021G>A	ENST00000354582.6	+	22	2942	c.2592G>A	c.(2590-2592)acG>acA	p.T864T	ITPR1_ENST00000456211.2_Silent_p.T849T|ITPR1_ENST00000357086.4_Silent_p.T864T|ITPR1_ENST00000443694.2_Silent_p.T849T|ITPR1_ENST00000423119.2_Silent_p.T864T|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000302640.8_Silent_p.T849T			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	864					activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		ATAAGCTTACGTTTGAGGTAA	0.383													4	12					0	0	1	0	0	A	4716021	G	A	4716021	2	1	81	1	0	0	0	0	0	0	0	1	7964	1132	40	1		1	ITPR1	3	4716021	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	360523	4716021	193306409	2708	6324											
ITPR1	3708	broad.mit.edu	37	3	4859858	4859858	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:4859858G>A	ENST00000354582.6	+	59	8265	c.7915G>A	c.(7915-7917)Gtc>Atc	p.V2639I	ITPR1_ENST00000544951.1_Missense_Mutation_p.V617I|ITPR1_ENST00000463980.1_3'UTR|ITPR1_ENST00000357086.4_Missense_Mutation_p.V2606I|ITPR1_ENST00000423119.2_Missense_Mutation_p.V2606I|AC018816.3_ENST00000449914.1_Intron|AC018816.3_ENST00000489771.1_Intron|AC018816.3_ENST00000441894.1_Intron|ITPR1_ENST00000456211.2_Missense_Mutation_p.V2591I|ITPR1_ENST00000302640.8_Missense_Mutation_p.V2639I|ITPR1_ENST00000443694.2_Missense_Mutation_p.V2639I			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	2654					activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		GTGCTTCATCGTCCTGGTGAA	0.468													11	13					0	0	1	0	0	A	4859858	G	A	4859858	3	1	81	1	0	0	0	0	1	0	0	0	7964	1145	40	1	8190	1	ITPR1	3	4859858	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	143837	4859858	193162572	2709	6325											
BHLHE40	8553	broad.mit.edu	37	3	5024755	5024755	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:5024755G>A	ENST00000256495.3	+	5	1220	c.617G>A	c.(616-618)aGc>aAc	p.S206N		NM_003670.2	NP_003661.1	O14503	BHE40_HUMAN	basic helix-loop-helix family, member e40	206						Golgi apparatus|nucleolus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|skin(2)	12						GAAAAACCCAGCTCTCCGGCC	0.607													20	38					0	0	1	0	0	A	5024755	G	A	5024755	3	1	81	1	0	0	0	0	1	0	0	0	1422	971	34	2	635	2	BHLHE40	3	5024755	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	164897	5024755	192997675	2710	6326											
ARL8B	55207	broad.mit.edu	37	3	5220422	5220422	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:5220422C>T	ENST00000419534.2	+	5	616	c.446C>T	c.(445-447)tCc>tTc	p.S149F	ARL8B_ENST00000256496.3_3'UTR|AC026202.3_ENST00000439325.1_RNA|ARL8B_ENST00000468010.1_3'UTR			Q9NVJ2	ARL8B_HUMAN	ADP-ribosylation factor-like 8B	0					cell cycle|cell division|chromosome segregation|small GTPase mediated signal transduction	late endosome membrane|lysosomal membrane|midbody|spindle midzone	alpha-tubulin binding|beta-tubulin binding|GDP binding|GTP binding|GTPase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|pancreas(1)|skin(1)	9				OV - Ovarian serous cystadenocarcinoma(96;0.0717)|Epithelial(13;0.0777)		GTCTTCCAGTCCTTCTTGGCT	0.398													22	43					0	0	1	0	0	T	5220422	C	T	5220422	3	4	81	1	0	0	0	0	1	0	0	0	946	870	30	2		2	ARL8B	3	5220422	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	195667	5220422	192802008	2711	6327											
GRM7	2917	broad.mit.edu	37	3	7348185	7348185	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:7348185G>A	ENST00000486284.1	+	4	1153	c.879G>A	c.(877-879)aaG>aaA	p.K293K	GRM7_ENST00000389336.4_Splice_Site_p.K293K|GRM7_ENST00000402647.2_Splice_Site_p.K293K|GRM7_ENST00000403881.1_Splice_Site_p.K293K|GRM7_ENST00000357716.4_Splice_Site_p.K293K	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	293					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	CTTTCCACAGGCAGATCCTTG	0.438													28	48					0	0	1	0	0	A	7348185	G	A	7348185	5	1	81	1	0	0	0	0	0	0	1	0	6843	1217	42	2	893	2	GRM7	3	7348185	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2127763	7348185	190674245	2712	6328											
LMCD1	29995	broad.mit.edu	37	3	8590439	8590439	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:8590439C>T	ENST00000157600.3	+	4	805	c.573C>T	c.(571-573)agC>agT	p.S191S	LMCD1_ENST00000397386.3_Silent_p.S79S|LMCD1-AS1_ENST00000439407.1_RNA|LMCD1_ENST00000454244.1_Silent_p.S118S|LMCD1_ENST00000535732.1_Silent_p.S191S	NM_014583.2	NP_055398.1	Q9NZU5	LMCD1_HUMAN	LIM and cysteine-rich domains 1	191	PET.				positive regulation of calcineurin-NFAT signaling pathway|regulation of cardiac muscle hypertrophy|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus	transcription corepressor activity|zinc ion binding			breast(2)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)	16				OV - Ovarian serous cystadenocarcinoma(96;0.124)		AATATAAGAGCGAGGCCCTCG	0.587													34	68					0	0	1	0	0	T	8590439	C	T	8590439	2	4	81	1	0	0	0	0	0	0	0	1	8885	767	27	1		1	LMCD1	3	8590439	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1242254	8590439	189431991	2713	6329											
SRGAP3	9901	broad.mit.edu	37	3	9097991	9097991	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:9097991C>T	ENST00000383836.3	-	8	1478	c.1051G>A	c.(1051-1053)Gtc>Atc	p.V351I	SRGAP3_ENST00000433332.3_5'UTR|SRGAP3_ENST00000360413.3_Missense_Mutation_p.V351I	NM_014850.3	NP_055665.1	O43295	SRGP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	351					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding		SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		TCTGTCTGGACGGGCTGCTGA	0.587			T	RAF1	pilocytic astrocytoma								19	40					0	0	1	0	0	T	9097991	C	T	9097991	3	4	81	1	0	0	0	0	1	0	0	0	15203	536	19	1	2343	1	SRGAP3	3	9097991	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	507552	9097991	188924439	2714	6330											
SETD5	55209	broad.mit.edu	37	3	9487358	9487358	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:9487358A>C	ENST00000402466.1	+	14	1932	c.1164A>C	c.(1162-1164)gaA>gaC	p.E388D	SETD5_ENST00000302463.6_Missense_Mutation_p.E388D|SETD5_ENST00000406341.1_Missense_Mutation_p.E486D|SETD5_ENST00000407969.1_Missense_Mutation_p.E505D|SETD5_ENST00000402198.1_Missense_Mutation_p.E486D			Q9C0A6	SETD5_HUMAN	SET domain containing 5	486	SET.									NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		ACAATCCAGAAGAAAAACCAG	0.393													17	33					0	0	1	0	0	C	9487358	A	C	9487358	3	2	81	1	0	0	0	0	1	0	0	0	14188	69	3	5	1500	5	SETD5	3	9487358	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	389367	9487358	188535072	2715	6331											
SETD5	55209	broad.mit.edu	37	3	9488989	9488989	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:9488989G>T	ENST00000402466.1	+	15	2254	c.1486G>T	c.(1486-1488)Ggg>Tgg	p.G496W	SETD5_ENST00000302463.6_Missense_Mutation_p.G496W|SETD5_ENST00000406341.1_Missense_Mutation_p.G594W|SETD5_ENST00000407969.1_Missense_Mutation_p.G613W|SETD5_ENST00000402198.1_Missense_Mutation_p.G594W			Q9C0A6	SETD5_HUMAN	SET domain containing 5	594										NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		TTCCCAAGCAGGGGTAAGAGT	0.428													8	160					1.12685e-05	1.27052e-05	1	1	0	T	9488989	G	T	9488989	3	4	81	1	0	0	0	0	1	0	0	0	14188	1000	35	4	1826	4	SETD5	3	9488989	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1631	9488989	188533441	2716	6332											
MTMR14	64419	broad.mit.edu	37	3	9704045	9704045	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:9704045C>A	ENST00000296003.4	+	3	525	c.403C>A	c.(403-405)Ctg>Atg	p.L135M	MTMR14_ENST00000351233.5_Missense_Mutation_p.L135M|MTMR14_ENST00000353332.5_Missense_Mutation_p.L135M|MTMR14_ENST00000420925.1_Intron	NM_001077525.2	NP_001070993.1	Q8NCE2	MTMRE_HUMAN	myotubularin related protein 14	135						perinuclear region of cytoplasm|ruffle	phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity			breast(1)|endometrium(3)|kidney(2)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	21	Medulloblastoma(99;0.227)					CCCAGTAATCCTGTTCAAGGG	0.512													4	48					0.184627	0.18622	1	1	0	A	9704045	C	A	9704045	3	1	81	1	0	0	0	0	1	0	0	0	9990	680	24	4	413	4	MTMR14	3	9704045	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	215056	9704045	188318385	2717	6333											
MTMR14	64419	broad.mit.edu	37	3	9714422	9714422	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:9714422T>C	ENST00000296003.4	+	7	853	c.731T>C	c.(730-732)cTc>cCc	p.L244P	MTMR14_ENST00000351233.5_Missense_Mutation_p.L244P|MTMR14_ENST00000353332.5_Missense_Mutation_p.L244P|MTMR14_ENST00000420925.1_Intron	NM_001077525.2	NP_001070993.1	Q8NCE2	MTMRE_HUMAN	myotubularin related protein 14	244						perinuclear region of cytoplasm|ruffle	phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity			breast(1)|endometrium(3)|kidney(2)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	21	Medulloblastoma(99;0.227)					GACTTCACTCTCCTCTCCATC	0.532													36	51					0	0	1	0	0	C	9714422	T	C	9714422	3	2	81	1	0	0	0	0	1	0	0	0	9990	1551	54	3	757	3	MTMR14	3	9714422	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	10377	9714422	188308008	2718	6334											
MTMR14	64419	broad.mit.edu	37	3	9714435	9714435	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:9714435G>A	ENST00000296003.4	+	7	866	c.744G>A	c.(742-744)ccG>ccA	p.P248P	MTMR14_ENST00000351233.5_Silent_p.P248P|MTMR14_ENST00000353332.5_Silent_p.P248P|MTMR14_ENST00000420925.1_Intron	NM_001077525.2	NP_001070993.1	Q8NCE2	MTMRE_HUMAN	myotubularin related protein 14	248						perinuclear region of cytoplasm|ruffle	phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity			breast(1)|endometrium(3)|kidney(2)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	21	Medulloblastoma(99;0.227)					TCTCCATCCCGTATCCAGGTA	0.552													35	58					0	0	1	0	0	A	9714435	G	A	9714435	2	1	81	1	0	0	0	0	0	0	0	1	9990	1132	40	1		1	MTMR14	3	9714435	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	13	9714435	188307995	2719	6335											
MTMR14	64419	broad.mit.edu	37	3	9719032	9719032	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:9719032G>T	ENST00000296003.4	+	8	905	c.783G>T	c.(781-783)cgG>cgT	p.R261R	MTMR14_ENST00000351233.5_Silent_p.R261R|MTMR14_ENST00000353332.5_Silent_p.R261R|MTMR14_ENST00000420925.1_Intron	NM_001077525.2	NP_001070993.1	Q8NCE2	MTMRE_HUMAN	myotubularin related protein 14	261						perinuclear region of cytoplasm|ruffle	phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity			breast(1)|endometrium(3)|kidney(2)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	21	Medulloblastoma(99;0.227)					ATAAAGATCGGGATTACATGG	0.443													37	67					4.92203e-23	6.47644e-23	1	1	0	T	9719032	G	T	9719032	2	4	81	1	0	0	0	0	0	0	0	1	9990	1219	43	5		5	MTMR14	3	9719032	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	4597	9719032	188303398	2720	6336											
BRPF1	7862	broad.mit.edu	37	3	9775966	9775966	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:9775966G>A	ENST00000383829.2	+	2	546	c.142G>A	c.(142-144)Gac>Aac	p.D48N	BRPF1_ENST00000302054.3_Missense_Mutation_p.D48N|BRPF1_ENST00000424362.1_Missense_Mutation_p.D48N|BRPF1_ENST00000433861.2_Missense_Mutation_p.D48N|BRPF1_ENST00000457855.1_Missense_Mutation_p.D48N	NM_001003694.1	NP_001003694.1	P55201	BRPF1_HUMAN	bromodomain and PHD finger containing, 1	48					histone H3 acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|MOZ/MORF histone acetyltransferase complex|plasma membrane	DNA binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	49	Medulloblastoma(99;0.227)					CTATGACCACGACAACCCACC	0.577													40	44					0	0	1	0	0	A	9775966	G	A	9775966	3	1	81	1	0	0	0	0	1	0	0	0	1522	1058	37	1	144	1	BRPF1	3	9775966	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	56934	9775966	188246464	2721	6337											
BRPF1	7862	broad.mit.edu	37	3	9776067	9776067	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:9776067C>A	ENST00000383829.2	+	2	647	c.243C>A	c.(241-243)gtC>gtA	p.V81V	BRPF1_ENST00000302054.3_Silent_p.V81V|BRPF1_ENST00000424362.1_Silent_p.V81V|BRPF1_ENST00000433861.2_Silent_p.V81V|BRPF1_ENST00000457855.1_Silent_p.V81V	NM_001003694.1	NP_001003694.1	P55201	BRPF1_HUMAN	bromodomain and PHD finger containing, 1	81	Interaction with MYST3 and MYST4.				histone H3 acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|MOZ/MORF histone acetyltransferase complex|plasma membrane	DNA binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	49	Medulloblastoma(99;0.227)					CCTCAGAGGTCTCACAGTCAC	0.602													5	112					0.184627	0.18622	1	1	0	A	9776067	C	A	9776067	2	1	81	1	0	0	0	0	0	0	0	1	1522	900	32	4		4	BRPF1	3	9776067	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	101	9776067	188246363	2722	6338											
BRPF1	7862	broad.mit.edu	37	3	9776248	9776248	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:9776248C>A	ENST00000383829.2	+	2	828	c.424C>A	c.(424-426)Cca>Aca	p.P142T	BRPF1_ENST00000302054.3_Missense_Mutation_p.P142T|BRPF1_ENST00000424362.1_Missense_Mutation_p.P142T|BRPF1_ENST00000433861.2_Missense_Mutation_p.P142T|BRPF1_ENST00000457855.1_Missense_Mutation_p.P142T	NM_001003694.1	NP_001003694.1	P55201	BRPF1_HUMAN	bromodomain and PHD finger containing, 1	142	Interaction with MYST3 and MYST4.				histone H3 acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|MOZ/MORF histone acetyltransferase complex|plasma membrane	DNA binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	49	Medulloblastoma(99;0.227)					CACTGAGACACCAGCTGCTAC	0.542													7	42					8.12818e-05	8.94031e-05	1	1	0	A	9776248	C	A	9776248	3	1	81	1	0	0	0	0	1	0	0	0	1522	507	18	5	426	5	BRPF1	3	9776248	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	181	9776248	188246182	2723	6339											
BRPF1	7862	broad.mit.edu	37	3	9785586	9785586	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:9785586G>A	ENST00000383829.2	+	8	3039		c.e8+1		BRPF1_ENST00000302054.3_Splice_Site|BRPF1_ENST00000424362.1_Splice_Site|BRPF1_ENST00000433861.2_Splice_Site|BRPF1_ENST00000457855.1_Splice_Site	NM_001003694.1	NP_001003694.1	P55201	BRPF1_HUMAN	bromodomain and PHD finger containing, 1						histone H3 acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|MOZ/MORF histone acetyltransferase complex|plasma membrane	DNA binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	49	Medulloblastoma(99;0.227)					ACAAGCAAAGGTCTGAATCCC	0.597													3	19					0	0	1	0	0	A	9785586	G	A	9785586	5	1	81	1	0	0	0	0	0	0	1	0	1522	1275	44	2	2662	2	BRPF1	3	9785586	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	9338	9785586	188236844	2724	6340											
BRPF1	7862	broad.mit.edu	37	3	9789022	9789022	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:9789022G>A	ENST00000383829.2	+	14	4056	c.3652G>A	c.(3652-3654)Gat>Aat	p.D1218N	BRPF1_ENST00000302054.3_Missense_Mutation_p.D1212N|BRPF1_ENST00000424362.1_Missense_Mutation_p.D1211N|BRPF1_ENST00000433861.2_Missense_Mutation_p.D1117N|BRPF1_ENST00000457855.1_Missense_Mutation_p.D1212N	NM_001003694.1	NP_001003694.1	P55201	BRPF1_HUMAN	bromodomain and PHD finger containing, 1	1212					histone H3 acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|MOZ/MORF histone acetyltransferase complex|plasma membrane	DNA binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	49	Medulloblastoma(99;0.227)					TGAGACCAGCGATAGTGATTG	0.582													29	47					0	0	1	0	0	A	9789022	G	A	9789022	3	1	81	1	0	0	0	0	1	0	0	0	1522	1058	37	1	3702	1	BRPF1	3	9789022	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	3436	9789022	188233408	2725	6341											
TTLL3	26140	broad.mit.edu	37	3	9870917	9870917	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:9870917G>A	ENST00000383827.1	+	4	3037	c.756G>A	c.(754-756)caG>caA	p.Q252Q	TTLL3_ENST00000427853.3_Silent_p.Q252Q|TTLL3_ENST00000455274.1_Silent_p.Q252Q|TTLL3_ENST00000466245.1_3'UTR|ARPC4-TTLL3_ENST00000397256.1_Silent_p.Q525Q|TTLL3_ENST00000430793.1_Silent_p.Q252Q|TTLL3_ENST00000547186.1_Silent_p.Q464Q|TTLL3_ENST00000426895.4_Silent_p.Q607Q|TTLL3_ENST00000397241.1_Silent_p.Q252Q			Q9Y4R7	TTLL3_HUMAN	tubulin tyrosine ligase-like family, member 3	464	TTL.				axoneme assembly|cilium assembly|protein polyglycylation	cilium axoneme|cytoplasm|microtubule	protein-glycine ligase activity, initiating|tubulin-tyrosine ligase activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(2)|skin(1)	26	Medulloblastoma(99;0.227)					AGGACTTCCAGCCCTGGCTGA	0.627													31	27					0	0	1	0	0	A	9870917	G	A	9870917	2	1	81	1	0	0	0	0	0	0	0	1	16790	962	34	2		2	TTLL3	3	9870917	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	81895	9870917	188151513	2726	6342											
TTLL3	26140	broad.mit.edu	37	3	9876506	9876506	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:9876506G>T	ENST00000547186.1	+	12	2054	c.1838G>T	c.(1837-1839)aGg>aTg	p.R613M	TTLL3_ENST00000455274.1_Intron|TTLL3_ENST00000383827.1_3'UTR|ARPC4-TTLL3_ENST00000397256.1_3'UTR|TTLL3_ENST00000430793.1_Missense_Mutation_p.R401M|TTLL3_ENST00000426895.4_Missense_Mutation_p.R756M|TTLL3_ENST00000397241.1_3'UTR	NM_001025930.3	NP_001021100.3	Q9Y4R7	TTLL3_HUMAN	tubulin tyrosine ligase-like family, member 3	613					axoneme assembly|cilium assembly|protein polyglycylation	cilium axoneme|cytoplasm|microtubule	protein-glycine ligase activity, initiating|tubulin-tyrosine ligase activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(2)|skin(1)	26	Medulloblastoma(99;0.227)					AAGGCCTTGAGGACTCTACCC	0.592													28	50					2.4375e-19	3.17295e-19	1	1	0	T	9876506	G	T	9876506	3	4	81	1	0	0	0	0	1	0	0	0	16790	1000	35	4	1880	4	TTLL3	3	9876506	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	5589	9876506	188145924	2727	6343											
CIDEC	63924	broad.mit.edu	37	3	9911604	9911604	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:9911604G>T	ENST00000336832.2	-	5	655	c.516C>A	c.(514-516)tcC>tcA	p.S172S	CIDEC_ENST00000455015.1_Silent_p.S98S|CIDEC_ENST00000443115.1_Intron|CIDEC_ENST00000423850.1_Silent_p.S98S|CIDEC_ENST00000430427.1_Silent_p.S182S|CIDEC_ENST00000383817.1_Intron	NM_001199552.1|NM_001199623.1|NM_022094.3	NP_001186481.1|NP_001186552.1|NP_071377.2	Q96AQ7	CIDEC_HUMAN	cell death-inducing DFFA-like effector c	172					apoptosis|induction of apoptosis	cytosol|focal adhesion|nucleus				breast(2)|central_nervous_system(1)|endometrium(1)|lung(2)|ovary(1)|skin(1)	8	Medulloblastoma(99;0.227)					GCAGATCATAGGAAAGGGAGT	0.512													9	43					0.000274275	0.000297259	1	1	0	T	9911604	G	T	9911604	2	4	81	1	0	0	0	0	0	0	0	1	3449	987	35	4		4	CIDEC	3	9911604	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	35098	9911604	188110826	2728	6344											
IL17RC	84818	broad.mit.edu	37	3	9960204	9960204	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:9960204G>A	ENST00000295981.3	+	5	807	c.589G>A	c.(589-591)Gtg>Atg	p.V197M	IL17RC_ENST00000455057.1_Missense_Mutation_p.V126M|IL17RC_ENST00000403601.3_Missense_Mutation_p.V126M|IL17RC_ENST00000383812.4_Missense_Mutation_p.V126M|IL17RC_ENST00000416074.2_Intron|IL17RC_ENST00000413608.1_Missense_Mutation_p.V126M|IL17RC_ENST00000498214.1_3'UTR	NM_153461.3	NP_703191	Q8NAC3	I17RC_HUMAN	interleukin 17 receptor C	197						integral to membrane|plasma membrane	receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						GGCCCAAGTCGTGCTCTCCTT	0.642													13	30					0	0	1	0	0	A	9960204	G	A	9960204	3	1	81	1	0	0	0	0	1	0	0	0	7685	1145	40	1	607	1	IL17RC	3	9960204	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	48600	9960204	188062226	2729	6345											
CRELD1	78987	broad.mit.edu	37	3	9982636	9982636	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:9982636G>T	ENST00000383811.3	+	5	1162	c.563G>T	c.(562-564)gGg>gTg	p.G188V	CRELD1_ENST00000397170.3_Missense_Mutation_p.G188V|CRELD1_ENST00000326434.5_Missense_Mutation_p.G188V|CRELD1_ENST00000452070.1_Missense_Mutation_p.G188V	NM_015513.4	NP_056328	Q96HD1	CREL1_HUMAN	cysteine-rich with EGF-like domains 1	188	EGF-like 1.				cardiac septum development|endocardial cushion development	integral to membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|urinary_tract(1)	14						GCCGGCTACGGGGGTGAGGCC	0.632													8	51					0.000157383	0.000171784	1	1	0	T	9982636	G	T	9982636	3	4	81	1	0	0	0	0	1	0	0	0	3889	1232	43	5	581	5	CRELD1	3	9982636	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	22432	9982636	188039794	2730	6346											
FANCD2	2177	broad.mit.edu	37	3	10105596	10105596	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:10105596G>T	ENST00000287647.3	+	21	2040		c.e21+1		FANCD2_ENST00000383806.1_Splice_Site|FANCD2_ENST00000419585.1_Splice_Site|FANCD2_ENST00000383807.1_Splice_Site	NM_033084.3	NP_149075.2	Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2						DNA repair|response to gamma radiation	nucleoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		AAAAGCCCTGGTAAAGCCAAT	0.423			"D, Mis, N, F"			"AML, leukemia"		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				23	59					4.87955e-14	6.177e-14	1	1	0	T	10105596	G	T	10105596	5	4	81	1	0	0	0	0	0	0	1	0	5698	1275	44	5	2026	5	FANCD2	3	10105596	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	122960	10105596	187916834	2731	6347											
FANCD2	2177	broad.mit.edu	37	3	10122797	10122797	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:10122797G>A	ENST00000287647.3	+	31	3083	c.2990G>A	c.(2989-2991)cGg>cAg	p.R997Q	FANCD2_ENST00000383806.1_Missense_Mutation_p.R997Q|FANCD2_ENST00000419585.1_Missense_Mutation_p.R997Q|FANCD2_ENST00000383807.1_Missense_Mutation_p.R997Q	NM_033084.3	NP_149075.2	Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	997					DNA repair|response to gamma radiation	nucleoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		AAAGGAAGCCGGAATATTGGA	0.418			"D, Mis, N, F"			"AML, leukemia"		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				41	54					0	0	1	0	0	A	10122797	G	A	10122797	3	1	81	1	0	0	0	0	1	0	0	0	5698	1116	39	1	3108	1	FANCD2	3	10122797	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	17201	10122797	187899633	2732	6348											
IRAK2	3656	broad.mit.edu	37	3	10283837	10283838	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:10283837_10283838insA	ENST00000256458.4	+	13	1893_1894	c.1803_1804insA	c.(1804-1806)aaafs	p.K602fs		NM_001570.3	NP_001561.3	O43187	IRAK2_HUMAN	interleukin-1 receptor-associated kinase 2	602					activation of MAPK activity|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|interleukin-1-mediated signaling pathway|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of NF-kappaB transcription factor activity|positive regulation of NF-kappaB transcription factor activity|regulation of cytokine-mediated signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|endosome membrane|plasma membrane	ATP binding|NF-kappaB-inducing kinase activity|protein heterodimerization activity|protein homodimerization activity			breast(4)|large_intestine(8)|lung(11)|prostate(1)|stomach(1)	25						TCAATGAGGCCAAAAGGAAACT	0.406													27	66	---	---	---	---						A	10283838	-	A	10283837	7	5	81	1	0	1	1	0	0	0	0	0	7867	581	21	0	1853	0	IRAK2	3	10283837	Frame_Shift_Ins	INS	-	TCGA-DU-6392-01A-11D-1705-08	161040	10283837	187738593	2733	6349											
TATDN2	9797	broad.mit.edu	37	3	10302299	10302299	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:10302299G>A	ENST00000287652.4	+	3	1944	c.893G>A	c.(892-894)tGc>tAc	p.C298Y	RP11-438J1.1_ENST00000450534.1_3'UTR|TATDN2_ENST00000448281.2_Missense_Mutation_p.C298Y	NM_014760.3	NP_055575.3	Q93075	TATD2_HUMAN	TatD DNase domain containing 2	298						nucleus	endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(9)|pancreas(2)|prostate(1)|stomach(2)	28						ATTGACAAATGCTCTCCACCC	0.468													8	91					0	0	1	0	0	A	10302299	G	A	10302299	3	1	81	1	0	0	0	0	1	0	0	0	15649	1319	46	2	899	2	TATDN2	3	10302299	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	18462	10302299	187720131	2734	6350											
SEC13	6396	broad.mit.edu	37	3	10353769	10353769	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:10353769G>A	ENST00000397117.1	-	5	879	c.288C>T	c.(286-288)tgC>tgT	p.C96C	SEC13_ENST00000383801.2_Silent_p.C156C|SEC13_ENST00000350697.3_Silent_p.C110C|SEC13_ENST00000337354.4_Silent_p.C113C|SEC13_ENST00000397109.3_Silent_p.C96C			P55735	SEC13_HUMAN	SEC13 homolog (S. cerevisiae)	110					COPII vesicle coating|intracellular protein transport|mitotic prometaphase|mRNA transport|post-translational protein modification|protein N-linked glycosylation via asparagine|transmembrane transport	cytosol|endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Nup107-160 complex	protein binding			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	17						GGGGGGCCCAGCACACCGAGT	0.592													4	6					0	0	1	0	0	A	10353769	G	A	10353769	2	1	81	1	0	0	0	0	0	0	0	1	14034	963	34	2		2	SEC13	3	10353769	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	51470	10353769	187668661	2735	6351											
ATP2B2	491	broad.mit.edu	37	3	10420081	10420081	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:10420081G>A	ENST00000397077.1	-	9	1496	c.921C>T	c.(919-921)gaC>gaT	p.D307D	ATP2B2_ENST00000360273.2_Silent_p.D352D|ATP2B2_ENST00000383800.4_Silent_p.D307D|ATP2B2_ENST00000352432.4_Silent_p.D352D|ATP2B2_ENST00000343816.4_Silent_p.D338D			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	352					ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding	p.D307D(1)|p.D352D(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						CGGCTGCCCCGTCCTGTTGTT	0.622													17	44					0	0	1	0	0	A	10420081	G	A	10420081	2	1	81	1	0	0	0	0	0	0	0	1	1139	1136	40	1		1	ATP2B2	3	10420081	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	66312	10420081	187602349	2736	6352											
ATP2B2	491	broad.mit.edu	37	3	10452379	10452379	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:10452379G>A	ENST00000397077.1	-	5	895	c.320C>T	c.(319-321)aCg>aTg	p.T107M	ATP2B2_ENST00000360273.2_Missense_Mutation_p.T107M|ATP2B2_ENST00000383800.4_Missense_Mutation_p.T107M|ATP2B2_ENST00000352432.4_Missense_Mutation_p.T107M|ATP2B2_ENST00000343816.4_Missense_Mutation_p.T107M			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	107					ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						GATGATGAGCGTCACGTCCTG	0.557													101	153					0	0	1	0	0	A	10452379	G	A	10452379	3	1	81	1	0	0	0	0	1	0	0	0	1139	1145	40	1	3495	1	ATP2B2	3	10452379	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	32298	10452379	187570051	2737	6353											
ATG7	10533	broad.mit.edu	37	3	11340313	11340313	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:11340313G>T	ENST00000354449.3	+	2	169	c.144G>T	c.(142-144)aaG>aaT	p.K48N	ATG7_ENST00000446450.2_Missense_Mutation_p.K48N|ATG7_ENST00000354956.5_Missense_Mutation_p.K48N|ATG7_ENST00000469654.2_3'UTR	NM_006395.2	NP_006386.1	O95352	ATG7_HUMAN	autophagy related 7	48					autophagy|cellular membrane fusion|positive regulation of protein modification process|protein lipidation|protein transport	cytoplasm	APG12 activating enzyme activity|protein homodimerization activity|ubiquitin activating enzyme activity			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	34						AGGACATTAAGGGTTATTACT	0.428													8	124					0.00448238	0.00470627	1	1	0	T	11340313	G	T	11340313	3	4	81	1	0	0	0	0	1	0	0	0	1100	991	35	4	146	4	ATG7	3	11340313	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	887934	11340313	186682117	2738	6354											
ATG7	10533	broad.mit.edu	37	3	11468278	11468278	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:11468278G>A	ENST00000354449.3	+	18	1982	c.1957G>A	c.(1957-1959)Gtt>Att	p.V653I	ATG7_ENST00000446450.2_Intron|ATG7_ENST00000354956.5_Splice_Site_p.V626I	NM_006395.2	NP_006386.1	O95352	ATG7_HUMAN	autophagy related 7	653					autophagy|cellular membrane fusion|positive regulation of protein modification process|protein lipidation|protein transport	cytoplasm	APG12 activating enzyme activity|protein homodimerization activity|ubiquitin activating enzyme activity			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	34						TGTTTTACAGGTTCTTGATCA	0.313													14	27					0	0	1	0	0	A	11468278	G	A	11468278	5	1	81	1	0	0	0	0	0	0	1	0	1100	1275	44	2	2023	2	ATG7	3	11468278	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	127965	11468278	186554152	2739	6355											
ATG7	10533	broad.mit.edu	37	3	11468322	11468322	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:11468322G>T	ENST00000354449.3	+	18	2026	c.2001G>T	c.(1999-2001)aaG>aaT	p.K667N	ATG7_ENST00000446450.2_Intron|ATG7_ENST00000354956.5_Missense_Mutation_p.K640N	NM_006395.2	NP_006386.1	O95352	ATG7_HUMAN	autophagy related 7	667					autophagy|cellular membrane fusion|positive regulation of protein modification process|protein lipidation|protein transport	cytoplasm	APG12 activating enzyme activity|protein homodimerization activity|ubiquitin activating enzyme activity	p.K667N(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	34						TCCTAGCCAAGGTGTTTAATT	0.348													23	41					1.22574e-08	1.46304e-08	1	1	0	T	11468322	G	T	11468322	3	4	81	1	0	0	0	0	1	0	0	0	1100	991	35	4	2067	4	ATG7	3	11468322	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	44	11468322	186554108	2740	6356											
VGLL4	9686	broad.mit.edu	37	3	11643484	11643484	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:11643484A>G	ENST00000273038.3	-	3	442	c.77T>C	c.(76-78)cTc>cCc	p.L26P	VGLL4_ENST00000480288.1_5'UTR|VGLL4_ENST00000430365.2_Missense_Mutation_p.L32P|VGLL4_ENST00000413604.1_5'UTR|VGLL4_ENST00000404339.1_Missense_Mutation_p.L31P	NM_001284391.1|NM_014667.2	NP_001271320.1|NP_055482.2	Q14135	VGLL4_HUMAN	vestigial like 4 (Drosophila)	26					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|endometrium(1)|large_intestine(1)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10				LUSC - Lung squamous cell carcinoma(1;0.089)|Lung(1;0.111)		TTCTCCCCTGAGAGCAGCTTC	0.642													7	33					0	0	1	0	0	G	11643484	A	G	11643484	3	3	81	1	0	0	0	0	1	0	0	0	17221	304	11	3	835	3	VGLL4	3	11643484	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	175162	11643484	186378946	2741	6357											
TIMP4	7079	broad.mit.edu	37	3	12195185	12195185	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:12195185T>C	ENST00000287814.4	-	5	1015	c.505A>G	c.(505-507)Acc>Gcc	p.T169A	SYN2_ENST00000432424.2_RNA	NM_003256.3	NP_003247.1	Q99727	TIMP4_HUMAN	TIMP metallopeptidase inhibitor 4	169							metal ion binding|metalloendopeptidase inhibitor activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	11						GCCGAGATGGTACAGGGTACT	0.483													9	76					0	0	1	0	0	C	12195185	T	C	12195185	3	2	81	1	0	0	0	0	1	0	0	0	15980	1638	57	3	173	3	TIMP4	3	12195185	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	551701	12195185	185827245	2742	6358											
TSEN2	80746	broad.mit.edu	37	3	12545146	12545146	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:12545146C>T	ENST00000444864.1	+	5	1081	c.694C>T	c.(694-696)Cgt>Tgt	p.R232C	TSEN2_ENST00000454502.2_Splice_Site_p.R173C|TSEN2_ENST00000415684.1_Missense_Mutation_p.R232C|TSEN2_ENST00000402228.3_Missense_Mutation_p.R232C|TSEN2_ENST00000383797.5_Missense_Mutation_p.R232C|TSEN2_ENST00000314571.7_Missense_Mutation_p.R232C|TSEN2_ENST00000284995.6_Missense_Mutation_p.R232C	NM_001145395.1	NP_001138867.1	Q8NCE0	SEN2_HUMAN	TSEN2 tRNA splicing endonuclease subunit	232					mRNA processing|tRNA splicing, via endonucleolytic cleavage and ligation	cytoplasm|nucleolus|tRNA-intron endonuclease complex	nucleic acid binding|tRNA-intron endonuclease activity			central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)	19						CATCCTCCAGCGTGGCCTTCA	0.582													9	7					0	0	1	0	0	T	12545146	C	T	12545146	3	4	81	1	0	0	0	0	1	0	0	0	16673	782	27	1	708	1	TSEN2	3	12545146	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	349961	12545146	185477284	2743	6359											
MKRN2	23609	broad.mit.edu	37	3	12613679	12613679	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:12613679C>A	ENST00000170447.7	+	4	586	c.449C>A	c.(448-450)gCc>gAc	p.A150D	MKRN2_ENST00000411987.1_Missense_Mutation_p.A107D|MKRN2_ENST00000448482.1_Missense_Mutation_p.A148D	NM_001271707.1|NM_014160.3	NP_001258636.1|NP_054879.3	Q9H000	MKRN2_HUMAN	makorin ring finger protein 2	150						intracellular	ligase activity|nucleic acid binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(3)	16						TACCTGGATGCCATCAGGAGT	0.622													20	23					4.96729e-08	5.86596e-08	1	1	0	A	12613679	C	A	12613679	3	1	81	1	0	0	0	0	1	0	0	0	9655	739	26	5	463	5	MKRN2	3	12613679	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	68533	12613679	185408751	2744	6360											
CAND2	23066	broad.mit.edu	37	3	12858323	12858323	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:12858323T>C	ENST00000456430.2	+	10	1933	c.1892T>C	c.(1891-1893)aTc>aCc	p.I631T	CAND2_ENST00000295989.5_Missense_Mutation_p.I538T	NM_001162499.1	NP_001155971.1	O75155	CAND2_HUMAN	cullin-associated and neddylation-dissociated 2 (putative)	631					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(8)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						CTGCCCGCCATCAAGGCGCTT	0.627													49	74					0	0	1	0	0	C	12858323	T	C	12858323	3	2	81	1	0	0	0	0	1	0	0	0	2634	1435	50	3	1930	3	CAND2	3	12858323	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	244644	12858323	185164107	2745	6361											
CAND2	23066	broad.mit.edu	37	3	12858532	12858532	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:12858532G>A	ENST00000456430.2	+	10	2142	c.2101G>A	c.(2101-2103)Gcc>Acc	p.A701T	CAND2_ENST00000295989.5_Missense_Mutation_p.A608T	NM_001162499.1	NP_001155971.1	O75155	CAND2_HUMAN	cullin-associated and neddylation-dissociated 2 (putative)	701					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(8)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						TGAGCTGCCTGCCCTGGTCAA	0.672													4	33					0	0	1	0	0	A	12858532	G	A	12858532	3	1	81	1	0	0	0	0	1	0	0	0	2634	1319	46	2	2139	2	CAND2	3	12858532	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	209	12858532	185163898	2746	6362											
RPL32	6161	broad.mit.edu	37	3	12881651	12881651	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:12881651A>G	ENST00000429711.2	-	2	185	c.86T>C	c.(85-87)gTc>gCc	p.V29A	RPL32_ENST00000396957.1_Missense_Mutation_p.V29A|RPL32_ENST00000396953.2_Missense_Mutation_p.V29A|RPL32_ENST00000273223.6_Missense_Mutation_p.V29A|RPL32_ENST00000435983.1_Missense_Mutation_p.V29A	NM_000994.3	NP_000985.1	P62910	RL32_HUMAN	ribosomal protein L32	29					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|ribosome	protein binding|structural constituent of ribosome			kidney(1)|large_intestine(2)|lung(2)|ovary(1)	6						CTTAATTTTGACATATCGGTC	0.478													22	230					0	0	1	0	0	G	12881651	A	G	12881651	3	3	81	1	0	0	0	0	1	0	0	0	13634	275	10	3	333	3	RPL32	3	12881651	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	23119	12881651	185140779	2747	6363											
IQSEC1	9922	broad.mit.edu	37	3	12954952	12954952	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:12954952G>T	ENST00000273221.4	-	9	2550	c.2334C>A	c.(2332-2334)atC>atA	p.I778I		NM_014869.5	NP_055684.3	Q6DN90	IQEC1_HUMAN	IQ motif and Sec7 domain 1	778	PH.				regulation of ARF protein signal transduction	cytoplasm|nucleus	ARF guanyl-nucleotide exchange factor activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TGAACAGGAAGATTTCTCGCT	0.577													3	13					6.4e-05	7.07494e-05	1	1	0	T	12954952	G	T	12954952	2	4	81	1	0	0	0	0	0	0	0	1	7861	932	33	4		4	IQSEC1	3	12954952	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	73301	12954952	185067478	2748	6364											
NUP210	23225	broad.mit.edu	37	3	13373855	13373855	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:13373855A>G	ENST00000254508.5	-	29	3955	c.3873T>C	c.(3871-3873)ccT>ccC	p.P1291P		NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	1291					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					CTTCTATTTCAGGGTTGAGCA	0.473													4	108					0	0	1	0	0	G	13373855	A	G	13373855	2	3	81	1	0	0	0	0	0	0	0	1	10808	175	7	3		3	NUP210	3	13373855	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	418903	13373855	184648575	2749	6365											
NUP210	23225	broad.mit.edu	37	3	13378358	13378358	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:13378358C>T	ENST00000254508.5	-	27	3695	c.3613G>A	c.(3613-3615)Gtg>Atg	p.V1205M	NUP210_ENST00000485755.1_5'UTR	NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	1205					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					AGGCCTGGCACGGCATTGCCA	0.617													27	48					0	0	1	0	0	T	13378358	C	T	13378358	3	4	81	1	0	0	0	0	1	0	0	0	10808	536	19	1	2106	1	NUP210	3	13378358	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	4503	13378358	184644072	2750	6366											
NUP210	23225	broad.mit.edu	37	3	13381787	13381787	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:13381787C>T	ENST00000254508.5	-	24	3322	c.3240G>A	c.(3238-3240)ccG>ccA	p.P1080P	NUP210_ENST00000485755.1_Intron	NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	1080					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					TCAGCCTGAACGGGGGAAAGA	0.577													5	32					0	0	1	0	0	T	13381787	C	T	13381787	2	4	81	1	0	0	0	0	0	0	0	1	10808	523	19	1		1	NUP210	3	13381787	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3429	13381787	184640643	2751	6367											
NUP210	23225	broad.mit.edu	37	3	13407522	13407522	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:13407522G>A	ENST00000254508.5	-	14	1938	c.1856C>T	c.(1855-1857)aCg>aTg	p.T619M		NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	619					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					CACAAGAAGCGTGGTAGAGCC	0.617													4	52					0	0	1	0	0	A	13407522	G	A	13407522	3	1	81	1	0	0	0	0	1	0	0	0	10808	1145	40	1	3915	1	NUP210	3	13407522	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	25735	13407522	184614908	2752	6368											
FBLN2	2199	broad.mit.edu	37	3	13679300	13679300	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:13679300C>T	ENST00000404922.3	+	18	3696	c.3577C>T	c.(3577-3579)Cgg>Tgg	p.R1193W	FBLN2_ENST00000295760.7_Missense_Mutation_p.R1146W|FBLN2_ENST00000535798.1_Missense_Mutation_p.R1172W|FBLN2_ENST00000492059.1_Missense_Mutation_p.R1193W	NM_001004019.1	NP_001004019.1	P98095	FBLN2_HUMAN	fibulin 2	1146						proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			CTACCTGCAGCGGGCCGTGCT	0.617													10	53					0	0	1	0	0	T	13679300	C	T	13679300	3	4	81	1	0	0	0	0	1	0	0	0	5732	759	27	1	2333	1	FBLN2	3	13679300	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	271778	13679300	184343130	2753	6369											
TMEM43	79188	broad.mit.edu	37	3	14183116	14183116	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:14183116G>T	ENST00000306077.4	+	12	1278	c.1024G>T	c.(1024-1026)Gac>Tac	p.D342Y	RP11-434D12.1_ENST00000601399.1_Intron|RP11-434D12.1_ENST00000608606.1_Intron	NM_024334.2	NP_077310.1	Q9BTV4	TMM43_HUMAN	transmembrane protein 43	342						endoplasmic reticulum|Golgi apparatus|integral to membrane|nuclear inner membrane				breast(1)|cervix(3)|endometrium(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(2)	19						TGTTTTCCGAGACCTGGTCAA	0.577													18	27					7.07596e-05	7.81712e-05	1	1	0	T	14183116	G	T	14183116	3	4	81	1	0	0	0	0	1	0	0	0	16227	942	33	4	1070	4	TMEM43	3	14183116	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	503816	14183116	183839314	2754	6370											
XPC	7508	broad.mit.edu	37	3	14200186	14200186	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:14200186G>A	ENST00000285021.7	-	9	1411	c.1197C>T	c.(1195-1197)agC>agT	p.S399S	XPC_ENST00000449060.2_Silent_p.S362S	NM_001145769.1|NM_004628.4	NP_001139241.1|NP_004619.3	Q01831	XPC_HUMAN	xeroderma pigmentosum, complementation group C	399					nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal	cytoplasm|nucleoplasm|XPC complex	bubble DNA binding|damaged DNA binding|loop DNA binding|protein binding|single-stranded DNA binding			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CATCTTCCTCGCTGGAGGAGG	0.597			"Mis, N, F, S"			"skin basal cell, skin squamous cell, melanoma"		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				52	71					0	0	1	0	0	A	14200186	G	A	14200186	2	1	81	1	0	0	0	0	0	0	0	1	17501	1078	38	1		1	XPC	3	14200186	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	17070	14200186	183822244	2755	6371											
XPC	7508	broad.mit.edu	37	3	14208719	14208719	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:14208719G>A	ENST00000285021.7	-	5	785	c.571C>T	c.(571-573)Cgg>Tgg	p.R191W	XPC_ENST00000449060.2_Missense_Mutation_p.R154W	NM_001145769.1|NM_004628.4	NP_001139241.1|NP_004619.3	Q01831	XPC_HUMAN	xeroderma pigmentosum, complementation group C	191					nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal	cytoplasm|nucleoplasm|XPC complex	bubble DNA binding|damaged DNA binding|loop DNA binding|protein binding|single-stranded DNA binding			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						ATCGCCCTCCGAAGATATGTC	0.468			"Mis, N, F, S"			"skin basal cell, skin squamous cell, melanoma"		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				10	10					0	0	1	0	0	A	14208719	G	A	14208719	3	1	81	1	0	0	0	0	1	0	0	0	17501	1057	37	1	1248	1	XPC	3	14208719	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	8533	14208719	183813711	2756	6372											
LSM3	27258	broad.mit.edu	37	3	14239546	14239546	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:14239546G>A	ENST00000306024.3	+	4	742	c.239G>A	c.(238-240)cGg>cAg	p.R80Q		NM_014463.2	NP_055278.1	P62310	LSM3_HUMAN	LSM3 homolog, U6 small nuclear RNA associated (S. cerevisiae)	80					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	catalytic step 2 spliceosome|cytosol	protein binding|RNA binding			central_nervous_system(1)|large_intestine(2)|ovary(1)	4						TCAACGAAACGGAATATTCCA	0.393													18	34					0	0	1	0	0	A	14239546	G	A	14239546	3	1	81	1	0	0	0	0	1	0	0	0	9102	1116	39	1	253	1	LSM3	3	14239546	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	30827	14239546	183782884	2757	6373											
SLC6A6	6533	broad.mit.edu	37	3	14508123	14508123	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:14508123C>A	ENST00000454876.2	+	7	1161	c.832C>A	c.(832-834)Ctg>Atg	p.L278M	SLC6A6_ENST00000360861.3_Missense_Mutation_p.L278M			P31641	SC6A6_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 6	278					cellular amino acid metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity|taurine:sodium symporter activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)	28						CAAGTTCTATCTGTATCCTGA	0.637													4	56					5.9392e-07	6.87481e-07	1	1	0	A	14508123	C	A	14508123	3	1	81	1	0	0	0	0	1	0	0	0	14743	912	32	4	854	4	SLC6A6	3	14508123	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	268577	14508123	183514307	2758	6374											
GRIP2	80852	broad.mit.edu	37	3	14555201	14555201	+	RNA	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:14555201G>A	ENST00000273083.3	-	0	1675							Q9C0E4	GRIP2_HUMAN	glutamate receptor interacting protein 2						synaptic transmission	cytosol|plasma membrane	protein binding			endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25						CCTCCAGCACGACCTTGTGGG	0.622													6	12					0	0	1	0	0	A	14555201	G	A	14555201	1	1	81	0	1	0	0	0	0	0	0	0	6829	1045	37	1		1	GRIP2	3	14555201	RNA	SNP	G	TCGA-DU-6392-01A-11D-1705-08	47078	14555201	183467229	2759	6375											
GRIP2	80852	broad.mit.edu	37	3	14562059	14562059	+	RNA	DEL	A	A	-			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:14562059delA	ENST00000273083.3	-	0	778							Q9C0E4	GRIP2_HUMAN	glutamate receptor interacting protein 2						synaptic transmission	cytosol|plasma membrane	protein binding			endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25						CATGACGGAGAAAAAAAGTTT	0.512													10	30	---	---	---	---						-	14562059	A	-	14562059	6	5	81	0	1	1	0	1	0	0	0	0	6829	261	9	0		0	GRIP2	3	14562059	RNA	DEL	A	TCGA-DU-6392-01A-11D-1705-08	6858	14562059	183460371	2760	6376											
FGD5	152273	broad.mit.edu	37	3	14862981	14862981	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:14862981G>A	ENST00000285046.5	+	1	2513	c.2403G>A	c.(2401-2403)acG>acA	p.T801T	FGD5_ENST00000543601.1_Silent_p.T560T	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	801					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						GCGCGTTCACGAAGCTGTTTG	0.522													43	78					0	0	1	0	0	A	14862981	G	A	14862981	2	1	81	1	0	0	0	0	0	0	0	1	5869	1045	37	1		1	FGD5	3	14862981	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	300922	14862981	183159449	2761	6377											
NR2C2	7182	broad.mit.edu	37	3	15073889	15073889	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:15073889A>G	ENST00000425241.1	+	10	1476	c.1114A>G	c.(1114-1116)Aca>Gca	p.T372A	NR2C2_ENST00000406272.2_Missense_Mutation_p.T372A|NR2C2_ENST00000478572.1_3'UTR|NR2C2_ENST00000393102.3_Missense_Mutation_p.T372A|NR2C2_ENST00000323373.6_Missense_Mutation_p.T391A			P49116	NR2C2_HUMAN	nuclear receptor subfamily 2, group C, member 2	372					cell differentiation|nervous system development|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|spermatogenesis	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding			breast(1)|endometrium(2)|large_intestine(5)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						TTTCCAGCTAACAATGCCCAG	0.522													76	111					0	0	1	0	0	G	15073889	A	G	15073889	3	3	81	1	0	0	0	0	1	0	0	0	10671	43	2	3	1209	3	NR2C2	3	15073889	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	210908	15073889	182948541	2762	6378											
CAPN7	23473	broad.mit.edu	37	3	15292681	15292681	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:15292681C>T	ENST00000253693.2	+	21	2609	c.2356C>T	c.(2356-2358)Cct>Tct	p.P786S		NM_014296.2	NP_055111.1	Q9Y6W3	CAN7_HUMAN	calpain 7	786	Domain N.				proteolysis	nucleus	calcium-dependent cysteine-type endopeptidase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|skin(2)	22						CAATATCATTCCTAGTACCTT	0.338													51	77					0	0	1	0	0	T	15292681	C	T	15292681	3	4	81	1	0	0	0	0	1	0	0	0	2649	855	30	2	2438	2	CAPN7	3	15292681	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	218792	15292681	182729749	2763	6379											
SH3BP5	9467	broad.mit.edu	37	3	15298412	15298412	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:15298412G>A	ENST00000383791.3	-	8	1318	c.1098C>T	c.(1096-1098)ggC>ggT	p.G366G	SH3BP5_ENST00000408919.3_Silent_p.G209G|SH3BP5_ENST00000426925.1_Silent_p.G209G|SH3BP5_ENST00000253688.5_Silent_p.G209G|SH3BP5-AS1_ENST00000420195.1_RNA	NM_004844.4	NP_004835.2	O60239	3BP5_HUMAN	SH3-domain binding protein 5 (BTK-associated)	366	Ser-rich.				intracellular signal transduction	mitochondrion	protein kinase inhibitor activity|SH3 domain binding			NS(1)|endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	12						CACTTCGAGGGCCCAACACTG	0.597													11	17					0	0	1	0	0	A	15298412	G	A	15298412	2	1	81	1	0	0	0	0	0	0	0	1	14301	1190	42	2		2	SH3BP5	3	15298412	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	5731	15298412	182724018	2764	6380											
METTL6	131965	broad.mit.edu	37	3	15452855	15452855	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:15452855G>T	ENST00000443029.1	-	6	1003	c.763C>A	c.(763-765)Ctg>Atg	p.L255M	METTL6_ENST00000383790.3_Missense_Mutation_p.L255M|METTL6_ENST00000450816.2_Missense_Mutation_p.L210M			Q8TCB7	METL6_HUMAN	methyltransferase like 6	255							methyltransferase activity			endometrium(1)|kidney(1)|large_intestine(9)|lung(3)|prostate(1)	15						GGCACACACAGGCCTTCTTTT	0.453													6	76					2.0095e-06	2.30238e-06	1	1	0	T	15452855	G	T	15452855	3	4	81	1	0	0	0	0	1	0	0	0	9554	991	35	4	95	4	METTL6	3	15452855	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	154443	15452855	182569575	2765	6381											
EAF1	85403	broad.mit.edu	37	3	15478058	15478058	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:15478058A>C	ENST00000396842.2	+	5	1161	c.736A>C	c.(736-738)Agc>Cgc	p.S246R	EAF1_ENST00000432764.2_Missense_Mutation_p.S145R|EAF1-AS1_ENST00000597949.1_RNA	NM_033083.6	NP_149074.3	Q96JC9	EAF1_HUMAN	ELL associated factor 1	246	Necessary for transactivation activity.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	Cajal body|nuclear speck	protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|urinary_tract(1)	7						GCCACAAGGAAGCAACCAGCT	0.547													14	20					0	0	1	0	0	C	15478058	A	C	15478058	3	2	81	1	0	0	0	0	1	0	0	0	4901	72	3	5	754	5	EAF1	3	15478058	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	25203	15478058	182544372	2766	6382											
PLCL2	23228	broad.mit.edu	37	3	17051820	17051820	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:17051820A>G	ENST00000418129.2	+	2	1069	c.604A>G	c.(604-606)Aag>Gag	p.K202E	PLCL2_ENST00000460467.1_Intron|PLCL2_ENST00000396755.2_Missense_Mutation_p.K202E|PLCL2_ENST00000432376.1_Missense_Mutation_p.K202E	NM_001144382.1	NP_001137854.1	Q9UPR0	PLCL2_HUMAN	phospholipase C-like 2	328	PH.				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						CGAGGTCACAAAGGAAGAATT	0.333													6	75					0	0	1	0	0	G	17051820	A	G	17051820	3	3	81	1	0	0	0	0	1	0	0	0	12088	15	1	3	982	3	PLCL2	3	17051820	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	1573762	17051820	180970610	2767	6383											
SATB1	6304	broad.mit.edu	37	3	18419766	18419766	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:18419766T>C	ENST00000338745.6	-	9	3205	c.1471A>G	c.(1471-1473)Acc>Gcc	p.T491A	SATB1_ENST00000454909.2_Missense_Mutation_p.T491A|TBC1D5_ENST00000414318.2_Intron|SATB1_ENST00000417717.2_Missense_Mutation_p.T491A	NM_002971.4	NP_002962.1	Q01826	SATB1_HUMAN	SATB homeobox 1	491					cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter	nuclear matrix|PML body	double-stranded DNA binding|sequence-specific DNA binding			NS(2)|breast(2)|endometrium(6)|large_intestine(4)|lung(10)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	32						ATGTTCATGGTATTGTTCTCT	0.388													15	212					0	0	1	0	0	C	18419766	T	C	18419766	3	2	81	1	0	0	0	0	1	0	0	0	13906	1638	57	3	832	3	SATB1	3	18419766	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	1367946	18419766	179602664	2768	6384											
SATB1	6304	broad.mit.edu	37	3	18457582	18457582	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:18457582G>A	ENST00000338745.6	-	4	2166	c.432C>T	c.(430-432)taC>taT	p.Y144Y	SATB1_ENST00000454909.2_Silent_p.Y144Y|SATB1_ENST00000475083.1_5'UTR|TBC1D5_ENST00000414318.2_Intron|SATB1_ENST00000417717.2_Silent_p.Y144Y	NM_002971.4	NP_002962.1	Q01826	SATB1_HUMAN	SATB homeobox 1	144	PDZ-like dimerization domain.				cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter	nuclear matrix|PML body	double-stranded DNA binding|sequence-specific DNA binding			NS(2)|breast(2)|endometrium(6)|large_intestine(4)|lung(10)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	32						CATCTGTCACGTAAGACAGTG	0.388													32	61					0	0	1	0	0	A	18457582	G	A	18457582	2	1	81	1	0	0	0	0	0	0	0	1	13906	1140	40	1		1	SATB1	3	18457582	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	37816	18457582	179564848	2769	6385											
SATB1	6304	broad.mit.edu	37	3	18462280	18462280	+	Silent	SNP	C	C	T	rs138373358		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:18462280C>T	ENST00000338745.6	-	2	1914	c.180G>A	c.(178-180)tcG>tcA	p.S60S	SATB1_ENST00000454909.2_Silent_p.S60S|TBC1D5_ENST00000414318.2_Intron|SATB1_ENST00000493952.2_Silent_p.S60S|SATB1_ENST00000417717.2_Silent_p.S60S	NM_002971.4	NP_002962.1	Q01826	SATB1_HUMAN	SATB homeobox 1	60					cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter	nuclear matrix|PML body	double-stranded DNA binding|sequence-specific DNA binding			NS(2)|breast(2)|endometrium(6)|large_intestine(4)|lung(10)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	32						TCAGATGGCCCGAGTGTTTTA	0.507													9	128					0	0	1	0	0	T	18462280	C	T	18462280	2	4	81	1	0	0	0	0	0	0	0	1	13906	639	23	1		1	SATB1	3	18462280	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	4698	18462280	179560150	2770	6386											
KCNH8	131096	broad.mit.edu	37	3	19492884	19492884	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:19492884C>A	ENST00000328405.2	+	10	2079	c.1813C>A	c.(1813-1815)Ctg>Atg	p.L605M		NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	605						integral to membrane	two-component sensor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						CAGCATGGTGCTGGCTATTCT	0.448													41	45					6.45866e-13	8.11025e-13	1	1	0	A	19492884	C	A	19492884	3	1	81	1	0	0	0	0	1	0	0	0	8082	796	28	4	1851	4	KCNH8	3	19492884	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1030604	19492884	178529546	2771	6387											
KCNH8	131096	broad.mit.edu	37	3	19498417	19498417	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:19498417C>T	ENST00000328405.2	+	11	2249	c.1983C>T	c.(1981-1983)ttC>ttT	p.F661F		NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	661						integral to membrane	two-component sensor activity	p.F661F(1)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						CTCACAAATTCGTGGAAGACA	0.413													21	28					0	0	1	0	0	T	19498417	C	T	19498417	2	4	81	1	0	0	0	0	0	0	0	1	8082	883	31	1		1	KCNH8	3	19498417	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	5533	19498417	178524013	2772	6388											
EFHB	151651	broad.mit.edu	37	3	19974983	19974983	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:19974983G>T	ENST00000295824.9	-	1	689	c.528C>A	c.(526-528)acC>acA	p.T176T	EFHB_ENST00000498089.1_5'UTR|EFHB_ENST00000344838.4_Intron	NM_144715.3	NP_653316.3	Q8N7U6	EFHB_HUMAN	EF-hand domain family, member B	176					signal transduction	proteinaceous extracellular matrix	calcium ion binding			breast(2)|endometrium(4)|kidney(1)|lung(17)|prostate(1)|urinary_tract(1)	26						TTAAAACACAGGTAGACTCTT	0.483													5	106					3.59834e-05	3.99423e-05	1	1	0	T	19974983	G	T	19974983	2	4	81	1	0	0	0	0	0	0	0	1	4971	987	35	4		4	EFHB	3	19974983	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	476566	19974983	178047447	2773	6389											
ZNF385D	79750	broad.mit.edu	37	3	21462709	21462709	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:21462709G>A	ENST00000281523.2	-	8	1703	c.1185C>T	c.(1183-1185)taC>taT	p.Y395Y		NM_024697.2	NP_078973.1	Q9H6B1	Z385D_HUMAN	zinc finger protein 385D	395						nucleus	nucleic acid binding|zinc ion binding			NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						TTGGAATTTAGTAAGGAGCAA	0.428													4	13					0	0	1	0	0	A	21462709	G	A	21462709	2	1	81	1	0	0	0	0	0	0	0	1	17935	1024	36	2		2	ZNF385D	3	21462709	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1487726	21462709	176559721	2774	6390											
UBE2E1	7324	broad.mit.edu	37	3	23848871	23848871	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:23848871C>T	ENST00000306627.3	+	2	330	c.111C>T	c.(109-111)agC>agT	p.S37S	UBE2E1_ENST00000346855.3_Silent_p.S37S	NM_003341.4	NP_003332.1	P51965	UB2E1_HUMAN	ubiquitin-conjugating enzyme E2E 1	37					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|histone H2B ubiquitination|histone monoubiquitination|ISG15-protein conjugation|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K48-linked ubiquitination	cytosol|nucleoplasm|ubiquitin ligase complex	ATP binding|ISG15 ligase activity|protein binding|ubiquitin-protein ligase activity			breast(1)|endometrium(2)|large_intestine(4)	7						GTAAAGTCAGCATGAGCAAAA	0.493													4	35					0	0	1	0	0	T	23848871	C	T	23848871	2	4	81	1	0	0	0	0	0	0	0	1	16913	709	25	2		2	UBE2E1	3	23848871	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2386162	23848871	174173559	2775	6391											
RPL15	6138	broad.mit.edu	37	3	23960723	23960723	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:23960723C>A	ENST00000307839.5	+	4	985	c.346C>A	c.(346-348)Ctg>Atg	p.L116M	RPL15_ENST00000413699.1_Missense_Mutation_p.L116M|RPL15_ENST00000456530.2_Missense_Mutation_p.L116M|RPL15_ENST00000435882.1_Missense_Mutation_p.L116M|RPL15_ENST00000354811.5_Missense_Mutation_p.L116M|RPL15_ENST00000415719.1_Missense_Mutation_p.L116M|NKIRAS1_ENST00000421515.2_Intron	NM_001253379.1|NM_001253380.1|NM_002948.3	NP_001240308.1|NP_001240309.1|NP_002939.2	P61313	RL15_HUMAN	ribosomal protein L15	116					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|ribosome	RNA binding|structural constituent of ribosome			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	7						TCTGAGAGTCCTGAATTCTTA	0.448													5	82					0.217242	0.218703	1	1	0	A	23960723	C	A	23960723	3	1	81	1	0	0	0	0	1	0	0	0	13614	680	24	4	356	4	RPL15	3	23960723	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	111852	23960723	174061707	2776	6392											
NR1D2	9975	broad.mit.edu	37	3	24006638	24006638	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:24006638G>T	ENST00000312521.4	+	6	1636	c.1317G>T	c.(1315-1317)aaG>aaT	p.K439N	NR1D2_ENST00000492552.1_3'UTR	NM_001145425.1|NM_005126.4	NP_001138897.1|NP_005117	Q14995	NR1D2_HUMAN	nuclear receptor subfamily 1, group D, member 2	439					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding			NS(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	22						ACCTTTTAAAGGCTGGGACTT	0.388													13	133					6.31663e-08	7.44777e-08	1	1	0	T	24006638	G	T	24006638	3	4	81	1	0	0	0	0	1	0	0	0	10664	991	35	4	1339	4	NR1D2	3	24006638	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	45915	24006638	174015792	2777	6393											
THRB	7068	broad.mit.edu	37	3	24164438	24164438	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:24164438G>A	ENST00000396671.2	-	11	1671	c.1323C>T	c.(1321-1323)caC>caT	p.H441H	THRB_ENST00000416420.1_Silent_p.H441H|THRB_ENST00000356447.4_Silent_p.H441H|THRB_ENST00000280696.5_Silent_p.H456H	NM_001128176.2	NP_001121648.1	P10828	THB_HUMAN	thyroid hormone receptor, beta	441	Interaction with NR2F6.|Ligand-binding.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	enzyme binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription corepressor activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(6)|pancreas(2)|prostate(1)|skin(3)	19					Levothyroxine(DB00451)|Liothyronine(DB00279)	CCACCTTCATGTGCAGGAAGC	0.488													13	76					0	0	1	0	0	A	24164438	G	A	24164438	2	1	81	1	0	0	0	0	0	0	0	1	15935	1368	48	2		2	THRB	3	24164438	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	157800	24164438	173857992	2778	6394											
TOP2B	7155	broad.mit.edu	37	3	25665884	25665884	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:25665884T>C	ENST00000435706.2	-	20	2585	c.2384A>G	c.(2383-2385)aAc>aGc	p.N795S	TOP2B_ENST00000264331.4_Missense_Mutation_p.N800S			Q02880	TOP2B_HUMAN	topoisomerase (DNA) II beta 180kDa	800					DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|resolution of meiotic recombination intermediates|sister chromatid segregation	cytosol|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex|WINAC complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|skin(2)|stomach(1)	36						GTTAATGTTGTTACTTCCCAC	0.373													48	64					0	0	1	0	0	C	25665884	T	C	25665884	3	2	81	1	0	0	0	0	1	0	0	0	16427	1725	60	3	2549	3	TOP2B	3	25665884	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	1501446	25665884	172356546	2779	6395											
TOP2B	7155	broad.mit.edu	37	3	25686851	25686851	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:25686851T>C	ENST00000435706.2	-	2	366	c.165A>G	c.(163-165)caA>caG	p.Q55Q	TOP2B_ENST00000264331.4_Silent_p.Q60Q			Q02880	TOP2B_HUMAN	topoisomerase (DNA) II beta 180kDa	60					DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|resolution of meiotic recombination intermediates|sister chromatid segregation	cytosol|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex|WINAC complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|skin(2)|stomach(1)	36						TGTGTTCAAGTTGTGTCTTCT	0.368													6	94					0	0	1	0	0	C	25686851	T	C	25686851	2	2	81	1	0	0	0	0	0	0	0	1	16427	1722	60	3		3	TOP2B	3	25686851	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	20967	25686851	172335579	2780	6396											
NGLY1	55768	broad.mit.edu	37	3	25773856	25773856	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:25773856G>T	ENST00000428257.1	-	9	1432	c.1325C>A	c.(1324-1326)tCt>tAt	p.S442Y	NGLY1_ENST00000417874.2_Missense_Mutation_p.S418Y|NGLY1_ENST00000422724.2_3'UTR|NGLY1_ENST00000280700.5_Missense_Mutation_p.S460Y|NGLY1_ENST00000396649.3_Missense_Mutation_p.S460Y|NGLY1_ENST00000467224.1_Intron	NM_001145293.1	NP_001138765.1	Q96IV0	NGLY1_HUMAN	N-glycanase 1	460					glycoprotein catabolic process	cytoplasm	metal ion binding|peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase activity|protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)	18						CACTGACCCAGATATTCTTCC	0.413													6	74					7.48243e-07	8.64403e-07	1	1	0	T	25773856	G	T	25773856	3	4	81	1	0	0	0	0	1	0	0	0	10445	942	33	4	601	4	NGLY1	3	25773856	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	87005	25773856	172248574	2781	6397											
NGLY1	55768	broad.mit.edu	37	3	25773921	25773921	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:25773921A>G	ENST00000428257.1	-	9	1367	c.1260T>C	c.(1258-1260)atT>atC	p.I420I	NGLY1_ENST00000417874.2_Silent_p.I396I|NGLY1_ENST00000422724.2_3'UTR|NGLY1_ENST00000280700.5_Silent_p.I438I|NGLY1_ENST00000396649.3_Silent_p.I438I|NGLY1_ENST00000467224.1_Intron	NM_001145293.1	NP_001138765.1	Q96IV0	NGLY1_HUMAN	N-glycanase 1	438					glycoprotein catabolic process	cytoplasm	metal ion binding|peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase activity|protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)	18						CAAGCTCCACAATTATCCTCT	0.398													6	61					0	0	1	0	0	G	25773921	A	G	25773921	2	3	81	1	0	0	0	0	0	0	0	1	10445	126	5	3		3	NGLY1	3	25773921	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	65	25773921	172248509	2782	6398											
OXSM	54995	broad.mit.edu	37	3	25835792	25835792	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:25835792C>A	ENST00000280701.3	+	3	1286	c.1187C>A	c.(1186-1188)gCt>gAt	p.A396D	OXSM_ENST00000420173.2_Missense_Mutation_p.A313D	NM_017897.2	NP_060367.1	Q9NWU1	OXSM_HUMAN	3-oxoacyl-ACP synthase, mitochondrial	396					acyl-CoA metabolic process|medium-chain fatty acid biosynthetic process|short-chain fatty acid biosynthetic process	mitochondrion	3-oxoacyl-[acyl-carrier-protein] synthase activity			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	25						GTCGAGGCAGCTTTTACCACA	0.438													9	93					1.12685e-05	1.27052e-05	1	1	0	A	25835792	C	A	25835792	3	1	81	1	0	0	0	0	1	0	0	0	11382	797	28	4	1193	4	OXSM	3	25835792	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	61871	25835792	172186638	2783	6399											
LRRC3B	116135	broad.mit.edu	37	3	26751326	26751326	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:26751326C>A	ENST00000396641.2	+	2	755	c.163C>A	c.(163-165)Ctc>Atc	p.L55I	LRRC3B_ENST00000417744.1_Missense_Mutation_p.L55I|LRRC3B_ENST00000456208.2_Missense_Mutation_p.L55I	NM_052953.2	NP_443185.1	Q96PB8	LRC3B_HUMAN	leucine rich repeat containing 3B	55	LRRNT.					integral to membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	21						CAATGCAAATCTCAAGGAAAT	0.413													6	72					0.00116845	0.00124301	1	1	0	A	26751326	C	A	26751326	3	1	81	1	0	0	0	0	1	0	0	0	9041	913	32	4	165	4	LRRC3B	3	26751326	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	915534	26751326	171271104	2784	6400											
SLC4A7	9497	broad.mit.edu	37	3	27475580	27475580	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:27475580T>C	ENST00000295736.5	-	6	648	c.578A>G	c.(577-579)aAc>aGc	p.N193S	SLC4A7_ENST00000437179.1_Missense_Mutation_p.N198S|SLC4A7_ENST00000440156.1_Missense_Mutation_p.N202S|SLC4A7_ENST00000428386.1_Missense_Mutation_p.N193S|SLC4A7_ENST00000445684.1_Missense_Mutation_p.N202S|SLC4A7_ENST00000446700.1_Missense_Mutation_p.N198S|SLC4A7_ENST00000388777.4_5'UTR|SLC4A7_ENST00000454389.1_Missense_Mutation_p.N202S|SLC4A7_ENST00000455077.1_Missense_Mutation_p.N198S|SLC4A7_ENST00000425128.2_Missense_Mutation_p.N198S|SLC4A7_ENST00000435667.2_Missense_Mutation_p.N202S	NM_003615.4	NP_003606.3	Q9Y6M7	S4A7_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 7	193						apical plasma membrane|basolateral plasma membrane|integral to membrane|stereocilium	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38						AGCTATCATGTTGTCTAATAC	0.338													26	22					0	0	1	0	0	C	27475580	T	C	27475580	3	2	81	1	0	0	0	0	1	0	0	0	14713	1725	60	3	3146	3	SLC4A7	3	27475580	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	724254	27475580	170546850	2785	6401											
AZI2	64343	broad.mit.edu	37	3	28368334	28368334	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:28368334G>A	ENST00000479665.1	-	7	1286	c.755C>T	c.(754-756)gCa>gTa	p.A252V	AZI2_ENST00000295748.3_5'UTR	NM_022461.3	NP_071906.1	Q9H6S1	AZI2_HUMAN	5-azacytidine induced 2	252	Interaction with TBK1.					mitochondrion|plasma membrane				cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15						TTTCTTGATTGCAGTTGAGGT	0.398													35	71					0	0	1	0	0	A	28368334	G	A	28368334	3	1	81	1	0	0	0	0	1	0	0	0	1239	1319	46	2	431	2	AZI2	3	28368334	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	892754	28368334	169654096	2786	6402											
RBMS3	27303	broad.mit.edu	37	3	29628682	29628682	+	Missense_Mutation	SNP	G	G	A	rs145048415		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:29628682G>A	ENST00000434693.2	+	4	1082	c.382G>A	c.(382-384)Gca>Aca	p.A128T	RBMS3_ENST00000445033.1_Missense_Mutation_p.A129T|RBMS3_ENST00000452462.1_Missense_Mutation_p.A129T|RBMS3_ENST00000396583.3_Missense_Mutation_p.A129T|RBMS3_ENST00000273139.9_Missense_Mutation_p.A129T|RBMS3_ENST00000383767.2_Missense_Mutation_p.A129T|RBMS3_ENST00000456853.1_Missense_Mutation_p.A129T|RBMS3_ENST00000383766.2_Missense_Mutation_p.A128T	NM_001003793.2	NP_001003793.1	Q6XE24	RBMS3_HUMAN	RNA binding motif, single stranded interacting protein 3	129	RRM 1.					cytoplasm	nucleotide binding|RNA binding			breast(1)|central_nervous_system(1)|large_intestine(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	11		Ovarian(412;0.0956)				TGGCGTGCAGGCACAGATGGC	0.418													13	25					0	0	1	0	0	A	29628682	G	A	29628682	3	1	81	1	0	0	0	0	1	0	0	0	13202	1203	42	2	399	2	RBMS3	3	29628682	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1260348	29628682	168393748	2787	6403											
TGFBR2	7048	broad.mit.edu	37	3	30691945	30691945	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:30691945C>A	ENST00000295754.5	+	3	829	c.447C>A	c.(445-447)ttC>ttA	p.F149L	TGFBR2_ENST00000359013.4_Missense_Mutation_p.F174L	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II (70/80kDa)	149					activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|vasculogenesis	caveola|external side of plasma membrane	ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						ACATCATCTTCTCAGAAGGTG	0.428													47	70					6.08268e-21	7.9534e-21	1	1	0	A	30691945	C	A	30691945	3	1	81	1	0	0	0	0	1	0	0	0	15882	912	32	4	536	4	TGFBR2	3	30691945	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1063263	30691945	167330485	2788	6404											
TGFBR2	7048	broad.mit.edu	37	3	30713915	30713915	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:30713915G>A	ENST00000295754.5	+	4	1622	c.1240G>A	c.(1240-1242)Gct>Act	p.A414T	TGFBR2_ENST00000359013.4_Missense_Mutation_p.A439T	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II (70/80kDa)	414	Protein kinase.				activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|vasculogenesis	caveola|external side of plasma membrane	ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						GGATGACCTGGCTAACAGTGG	0.522													65	100					0	0	1	0	0	A	30713915	G	A	30713915	3	1	81	1	0	0	0	0	1	0	0	0	15882	1203	42	2	1333	2	TGFBR2	3	30713915	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	21970	30713915	167308515	2789	6405											
GADL1	339896	broad.mit.edu	37	3	30842578	30842578	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:30842578A>G	ENST00000454381.3	-	12	1099	c.1053T>C	c.(1051-1053)gaT>gaC	p.D351D	GADL1_ENST00000282538.5_Silent_p.D351D			Q6ZQY3	GADL1_HUMAN	glutamate decarboxylase-like 1	351					carboxylic acid metabolic process		carboxy-lyase activity|pyridoxal phosphate binding			breast(2)|endometrium(3)|kidney(2)|lung(17)|upper_aerodigestive_tract(1)	25					Pyridoxal Phosphate(DB00114)	TTTTAAGAAGATCCTTCGAAA	0.353													24	40					0	0	1	0	0	G	30842578	A	G	30842578	2	3	81	1	0	0	0	0	0	0	0	1	6220	330	12	3		3	GADL1	3	30842578	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	128663	30842578	167179852	2790	6406											
DYNC1LI1	51143	broad.mit.edu	37	3	32586466	32586466	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:32586466G>A	ENST00000273130.4	-	4	573	c.470C>T	c.(469-471)aCt>aTt	p.T157I	DYNC1LI1_ENST00000432458.2_Intron	NM_016141.3	NP_057225.2	Q9Y6G9	DC1L1_HUMAN	dynein, cytoplasmic 1, light intermediate chain 1	157					cell division|interspecies interaction between organisms|mitosis|positive regulation of mitotic cell cycle spindle assembly checkpoint|transport	centrosome|condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|plasma membrane|spindle pole	ATP binding|motor activity			kidney(2)|large_intestine(1)|lung(3)|ovary(1)	7						ATCCAAAGCAGTCCAAGGCTT	0.398													44	48					0	0	1	0	0	A	32586466	G	A	32586466	3	1	81	1	0	0	0	0	1	0	0	0	4870	1029	36	2	1141	2	DYNC1LI1	3	32586466	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1743888	32586466	165435964	2791	6407											
CNOT10	25904	broad.mit.edu	37	3	32754743	32754744	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:32754743_32754744insT	ENST00000328834.5	+	5	771_772	c.455_456insT	c.(454-459)tgttttfs	p.CF152fs	CNOT10_ENST00000454516.2_Frame_Shift_Ins_p.CF212fs|CNOT10_ENST00000331889.6_Frame_Shift_Ins_p.CF152fs|CNOT10_ENST00000538368.1_Intron	NM_015442.2	NP_056257.1	Q9H9A5	CNOTA_HUMAN	CCR4-NOT transcription complex, subunit 10	152					nuclear-transcribed mRNA poly(A) tail shortening	cytosol	protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(3)	23						CAAGCAGTGTGTTTTTTGCTTG	0.361													21	55	---	---	---	---						T	32754744	-	T	32754743	7	5	81	1	0	1	1	0	0	0	0	0	3641	1377	48	0	473	0	CNOT10	3	32754743	Frame_Shift_Ins	INS	-	TCGA-DU-6392-01A-11D-1705-08	168277	32754743	165267687	2792	6408											
CNOT10	25904	broad.mit.edu	37	3	32778978	32778978	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:32778978T>G	ENST00000328834.5	+	13	1907	c.1591T>G	c.(1591-1593)Tta>Gta	p.L531V	CNOT10_ENST00000538368.1_Missense_Mutation_p.L303V|CNOT10_ENST00000454516.2_Missense_Mutation_p.L591V|CNOT10_ENST00000331889.6_Intron	NM_015442.2	NP_056257.1	Q9H9A5	CNOTA_HUMAN	CCR4-NOT transcription complex, subunit 10	531					nuclear-transcribed mRNA poly(A) tail shortening	cytosol	protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(3)	23						ATTAGAAAACTTAAAGTGAGT	0.373													4	35					0	0	1	0	0	G	32778978	T	G	32778978	3	3	81	1	0	0	0	0	1	0	0	0	3641	1606	56	5	1641	5	CNOT10	3	32778978	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	24235	32778978	165243452	2793	6409											
TRIM71	131405	broad.mit.edu	37	3	32927435	32927435	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:32927435G>A	ENST00000383763.5	+	3	1093	c.1030G>A	c.(1030-1032)Gag>Aag	p.E344K		NM_001039111.1	NP_001034200.1	Q2Q1W2	LIN41_HUMAN	tripartite motif containing 71, E3 ubiquitin protein ligase						multicellular organismal development	cytoplasm	zinc ion binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GCTGAGCATCGAGCAGGCCCA	0.498													18	24					0	0	1	0	0	A	32927435	G	A	32927435	3	1	81	1	0	0	0	0	1	0	0	0	16605	1059	37	1	1040	1	TRIM71	3	32927435	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	148457	32927435	165094995	2794	6410											
CCR4	1233	broad.mit.edu	37	3	32995243	32995243	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:32995243G>A	ENST00000330953.5	+	2	497	c.329G>A	c.(328-330)tGc>tAc	p.C110Y		NM_005508.4	NP_005499.1	P51679	CCR4_HUMAN	chemokine (C-C motif) receptor 4	110					chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response	integral to plasma membrane				NS(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)|stomach(1)	16						CTAGGTCTGTGCAAGATGATT	0.488													95	133					0	0	1	0	0	A	32995243	G	A	32995243	3	1	81	1	0	0	0	0	1	0	0	0	2965	1319	46	2	331	2	CCR4	3	32995243	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	67808	32995243	165027187	2795	6411											
GLB1	2720	broad.mit.edu	37	3	33099698	33099698	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:33099698G>A	ENST00000307363.5	-	6	760	c.616C>T	c.(616-618)Cgc>Tgc	p.R206C	GLB1_ENST00000399402.3_Missense_Mutation_p.R176C|GLB1_ENST00000445488.2_Missense_Mutation_p.R254C|GLB1_ENST00000307377.8_Intron	NM_000404.2	NP_000395	P16278	BGAL_HUMAN	galactosidase, beta 1	206					carbohydrate metabolic process	lysosome|perinuclear region of cytoplasm	beta-galactosidase activity|cation binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	21		Melanoma(143;0.104)				TGGCGAAAGCGCTTCTGCAGG	0.483													12	25					0	0	1	0	0	A	33099698	G	A	33099698	3	1	81	1	0	0	0	0	1	0	0	0	6469	1087	38	1	1461	1	GLB1	3	33099698	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	104455	33099698	164922732	2796	6412											
TMPPE	643853	broad.mit.edu	37	3	33134502	33134502	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:33134502G>A	ENST00000342462.4	-	2	1376	c.1186C>T	c.(1186-1188)Cag>Tag	p.Q396*	GLB1_ENST00000399402.3_Intron|GLB1_ENST00000307363.5_Intron|GLB1_ENST00000445488.2_Intron|GLB1_ENST00000307377.8_Intron|TMPPE_ENST00000416695.2_Nonsense_Mutation_p.Q259*	NM_001039770.2	NP_001034859.2	Q6ZT21	TMPPE_HUMAN	transmembrane protein with metallophosphoesterase domain	396						integral to membrane	metal ion binding			breast(1)|large_intestine(5)|lung(6)|prostate(1)	13						GGGAAGATCTGCCCAGCATGT	0.552													7	42					0	0	1	0	0	A	33134502	G	A	33134502	4	1	81	1	0	0	0	0	0	1	0	0	16298	1328	46	2	179	2	TMPPE	3	33134502	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	34804	33134502	164887928	2797	6413											
TMPPE	643853	broad.mit.edu	37	3	33135232	33135232	+	Silent	SNP	G	G	A	rs148801297		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:33135232G>A	ENST00000342462.4	-	2	646	c.456C>T	c.(454-456)gtC>gtT	p.V152V	GLB1_ENST00000399402.3_Intron|GLB1_ENST00000307363.5_Intron|GLB1_ENST00000445488.2_Intron|GLB1_ENST00000307377.8_Intron|TMPPE_ENST00000416695.2_Silent_p.V15V	NM_001039770.2	NP_001034859.2	Q6ZT21	TMPPE_HUMAN	transmembrane protein with metallophosphoesterase domain	152						integral to membrane	metal ion binding			breast(1)|large_intestine(5)|lung(6)|prostate(1)	13						GGCTGCCCACGACCCTACCAC	0.612													9	7					0	0	1	0	0	A	33135232	G	A	33135232	2	1	81	1	0	0	0	0	0	0	0	1	16298	1045	37	1		1	TMPPE	3	33135232	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	730	33135232	164887198	2798	6414											
SUSD5	26032	broad.mit.edu	37	3	33195514	33195514	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:33195514C>T	ENST00000309558.3	-	5	1027	c.610G>A	c.(610-612)Gca>Aca	p.A204T		NM_015551.1	NP_056366.1	O60279	SUSD5_HUMAN	sushi domain containing 5	204					cell adhesion	integral to membrane	hyaluronic acid binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						TCAATGTGTGCCTCAGCCTCA	0.448													9	14					0	0	1	0	0	T	33195514	C	T	33195514	3	4	81	1	0	0	0	0	1	0	0	0	15467	739	26	2	1283	2	SUSD5	3	33195514	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	60282	33195514	164826916	2799	6415											
SUSD5	26032	broad.mit.edu	37	3	33255436	33255436	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:33255436C>T	ENST00000309558.3	-	2	691	c.274G>A	c.(274-276)Gca>Aca	p.A92T		NM_015551.1	NP_056366.1	O60279	SUSD5_HUMAN	sushi domain containing 5	92	Link.				cell adhesion	integral to membrane	hyaluronic acid binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						GTACCATCTGCTAGCCAGCCA	0.542													11	25					0	0	1	0	0	T	33255436	C	T	33255436	3	4	81	1	0	0	0	0	1	0	0	0	15467	797	28	2	1631	2	SUSD5	3	33255436	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	59922	33255436	164766994	2800	6416											
FBXL2	25827	broad.mit.edu	37	3	33416806	33416806	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:33416806G>T	ENST00000484457.1	+	10	775	c.684G>T	c.(682-684)caG>caT	p.Q228H	FBXL2_ENST00000283627.6_3'UTR|FBXL2_ENST00000538892.1_Missense_Mutation_p.Q160H|FBXL2_ENST00000446237.3_5'UTR|FBXL2_ENST00000507198.1_Missense_Mutation_p.Q160H|FBXL2_ENST00000538181.1_Missense_Mutation_p.Q144H|FBXL2_ENST00000542085.1_5'UTR	NM_012157.3	NP_036289.3	Q9UKC9	FBXL2_HUMAN	F-box and leucine-rich repeat protein 2	228					interspecies interaction between organisms|proteolysis	cytoplasm|membrane	protein binding|ubiquitin-protein ligase activity			endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|urinary_tract(1)	15						GTGTGGTGCAGATATGCAGGG	0.532													7	87					5.18039e-06	5.88187e-06	1	1	0	T	33416806	G	T	33416806	3	4	81	1	0	0	0	0	1	0	0	0	5749	933	33	4	722	4	FBXL2	3	33416806	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	161370	33416806	164605624	2801	6417											
FBXL2	25827	broad.mit.edu	37	3	33418801	33418801	+	Silent	SNP	C	C	T	rs139204865		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:33418801C>T	ENST00000484457.1	+	11	916	c.825C>T	c.(823-825)gaC>gaT	p.D275D	FBXL2_ENST00000283627.6_3'UTR|FBXL2_ENST00000538892.1_Silent_p.D207D|FBXL2_ENST00000446237.3_5'UTR|FBXL2_ENST00000507198.1_Silent_p.D207D|FBXL2_ENST00000538181.1_Silent_p.D191D|FBXL2_ENST00000542085.1_5'UTR	NM_012157.3	NP_036289.3	Q9UKC9	FBXL2_HUMAN	F-box and leucine-rich repeat protein 2	275					interspecies interaction between organisms|proteolysis	cytoplasm|membrane	protein binding|ubiquitin-protein ligase activity			endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|urinary_tract(1)	15						ATTTGACTGACGCAGGTTTTA	0.423													27	60					0	0	1	0	0	T	33418801	C	T	33418801	2	4	81	1	0	0	0	0	0	0	0	1	5749	535	19	1		1	FBXL2	3	33418801	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1995	33418801	164603629	2802	6418											
UBP1	7342	broad.mit.edu	37	3	33441687	33441687	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:33441687A>C	ENST00000283629.3	-	11	1703	c.1174T>G	c.(1174-1176)Ttt>Gtt	p.F392V	UBP1_ENST00000486388.1_5'UTR|UBP1_ENST00000447368.2_Missense_Mutation_p.F356V|UBP1_ENST00000283628.5_Missense_Mutation_p.F392V	NM_001128161.1|NM_014517.4	NP_001121633.1|NP_055332.3	Q9NZI7	UBIP1_HUMAN	upstream binding protein 1 (LBP-1a)	392					negative regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|viral genome replication	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|urinary_tract(2)	23						ATACCTGAAAAATTAGAGAAC	0.328													7	48					0	0	1	0	0	C	33441687	A	C	33441687	3	2	81	1	0	0	0	0	1	0	0	0	16956	14	1	5	472	5	UBP1	3	33441687	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	22886	33441687	164580743	2803	6419											
UBP1	7342	broad.mit.edu	37	3	33453088	33453088	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:33453088G>T	ENST00000283629.3	-	5	1069	c.540C>A	c.(538-540)acC>acA	p.T180T	UBP1_ENST00000447368.2_Silent_p.T180T|UBP1_ENST00000283628.5_Silent_p.T180T	NM_001128161.1|NM_014517.4	NP_001121633.1|NP_055332.3	Q9NZI7	UBIP1_HUMAN	upstream binding protein 1 (LBP-1a)	180					negative regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|viral genome replication	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|urinary_tract(2)	23						TGAAAGCAGAGGTGCGTTTTG	0.368													10	105					7.48243e-07	8.64403e-07	1	1	0	T	33453088	G	T	33453088	2	4	81	1	0	0	0	0	0	0	0	1	16956	987	35	4		4	UBP1	3	33453088	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	11401	33453088	164569342	2804	6420											
CLASP2	23122	broad.mit.edu	37	3	33592888	33592888	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:33592888C>A	ENST00000399362.4	-	30	3384		c.e30-1		CLASP2_ENST00000307312.7_Splice_Site|CLASP2_ENST00000539981.1_Splice_Site|CLASP2_ENST00000461133.3_Splice_Site|CLASP2_ENST00000468888.2_Splice_Site|CLASP2_ENST00000480013.1_Splice_Site|CLASP2_ENST00000359576.5_Splice_Site	NM_015097.2	NP_055912.2	B2RTR1	B2RTR1_HUMAN	cytoplasmic linker associated protein 2											breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	48						CAACCTTCACCTGCAGAGGAA	0.383													6	35					0.248553	0.249876	1	1	0	A	33592888	C	A	33592888	5	1	81	1	0	0	0	0	0	0	1	0	3478	695	24	4	1551	4	CLASP2	3	33592888	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	139800	33592888	164429542	2805	6421											
CLASP2	23122	broad.mit.edu	37	3	33663726	33663726	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:33663726T>C	ENST00000399362.4	-	11	1435	c.1082A>G	c.(1081-1083)gAt>gGt	p.D361G	CLASP2_ENST00000307312.7_5'UTR|CLASP2_ENST00000313350.6_Missense_Mutation_p.D134G|CLASP2_ENST00000487200.1_Missense_Mutation_p.D134G|CLASP2_ENST00000539981.1_Missense_Mutation_p.D113G|CLASP2_ENST00000461133.3_Missense_Mutation_p.D128G|CLASP2_ENST00000468888.2_Missense_Mutation_p.D362G|CLASP2_ENST00000482896.1_5'UTR|CLASP2_ENST00000480013.1_Missense_Mutation_p.D128G|CLASP2_ENST00000333778.6_Missense_Mutation_p.D138G|CLASP2_ENST00000359576.5_Missense_Mutation_p.D361G	NM_015097.2	NP_055912.2	B2RTR1	B2RTR1_HUMAN	cytoplasmic linker associated protein 2	362										breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	48						AAAAAAGCAATCATACTGTGC	0.368													3	41					0	0	1	0	0	C	33663726	T	C	33663726	3	2	81	1	0	0	0	0	1	0	0	0	3478	1435	50	3	3550	3	CLASP2	3	33663726	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	70838	33663726	164358704	2806	6422											
ARPP21	10777	broad.mit.edu	37	3	35729275	35729275	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:35729275G>T	ENST00000187397.4	+	6	762	c.306G>T	c.(304-306)gaG>gaT	p.E102D	ARPP21_ENST00000458225.1_Missense_Mutation_p.E102D|ARPP21_ENST00000417925.1_Missense_Mutation_p.E102D|ARPP21_ENST00000337271.5_Missense_Mutation_p.E102D|ARPP21_ENST00000444190.1_Missense_Mutation_p.E102D	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa	102						cytoplasm	nucleic acid binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						GCCTGCAAGAGGAGGATAAAT	0.348													5	89					0.014758	0.0152304	1	1	0	T	35729275	G	T	35729275	3	4	81	1	0	0	0	0	1	0	0	0	977	991	35	4	333	4	ARPP21	3	35729275	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2065549	35729275	162293155	2807	6423											
ARPP21	10777	broad.mit.edu	37	3	35770971	35770971	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:35770971C>T	ENST00000187397.4	+	15	1858	c.1402C>T	c.(1402-1404)Cca>Tca	p.P468S	ARPP21_ENST00000458225.1_Missense_Mutation_p.P434S|ARPP21_ENST00000417925.1_Missense_Mutation_p.P434S|ARPP21_ENST00000337271.5_Missense_Mutation_p.P414S|ARPP21_ENST00000444190.1_Missense_Mutation_p.P414S	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa	468						cytoplasm	nucleic acid binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						CATCCTCCTTCCACTTGAAGC	0.537													6	43					0	0	1	0	0	T	35770971	C	T	35770971	3	4	81	1	0	0	0	0	1	0	0	0	977	855	30	2	1465	2	ARPP21	3	35770971	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	41696	35770971	162251459	2808	6424											
STAC	6769	broad.mit.edu	37	3	36570431	36570431	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:36570431T>G	ENST00000273183.3	+	10	1364	c.1064T>G	c.(1063-1065)tTc>tGc	p.F355C	STAC_ENST00000457375.2_Missense_Mutation_p.F294C	NM_003149.1	NP_003140.1	Q99469	STAC_HUMAN	SH3 and cysteine rich domain	355					intracellular signal transduction	cytoplasm|soluble fraction	metal ion binding			endometrium(5)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(5)	32						GTTAGAACCTTCATTGGGTGT	0.393													23	32					0	0	1	0	0	G	36570431	T	G	36570431	3	3	81	1	0	0	0	0	1	0	0	0	15295	1783	62	5	1102	5	STAC	3	36570431	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	799460	36570431	161451999	2809	6425											
DCLK3	85443	broad.mit.edu	37	3	36763110	36763110	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:36763110G>A	ENST00000416516.2	-	3	1983	c.1493C>T	c.(1492-1494)gCt>gTt	p.A498V	DCLK3_ENST00000498047.1_5'UTR	NM_033403.1	NP_208382.1	Q9C098	DCLK3_HUMAN	doublecortin-like kinase 3	498	Protein kinase.					cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	48						TCCAAAATCAGCCAATTTCAA	0.408													29	38					0	0	1	0	0	A	36763110	G	A	36763110	3	1	81	1	0	0	0	0	1	0	0	0	4316	971	34	2	465	2	DCLK3	3	36763110	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	192679	36763110	161259320	2810	6426											
DCLK3	85443	broad.mit.edu	37	3	36779337	36779337	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:36779337G>A	ENST00000416516.2	-	2	1304	c.814C>T	c.(814-816)Cat>Tat	p.H272Y		NM_033403.1	NP_208382.1	Q9C098	DCLK3_HUMAN	doublecortin-like kinase 3	272						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	48						CAGCCACCATGTTTGCTCCTG	0.572													8	81					0	0	1	0	0	A	36779337	G	A	36779337	3	1	81	1	0	0	0	0	1	0	0	0	4316	1377	48	2	1148	2	DCLK3	3	36779337	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	16227	36779337	161243093	2811	6427											
TRANK1	9881	broad.mit.edu	37	3	36879871	36879871	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:36879871G>A	ENST00000429976.2	-	19	5624	c.5377C>T	c.(5377-5379)Ctg>Ttg	p.L1793L	TRANK1_ENST00000428977.2_Silent_p.L1243L|TRANK1_ENST00000301807.6_Silent_p.L1243L	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	1793					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						ACCTTTCCCAGCCTCTCGCAC	0.537													5	60					0	0	1	0	0	A	36879871	G	A	36879871	2	1	81	1	0	0	0	0	0	0	0	1	16515	962	34	2		2	TRANK1	3	36879871	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	100534	36879871	161142559	2812	6428											
TRANK1	9881	broad.mit.edu	37	3	36896952	36896952	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:36896952G>A	ENST00000429976.2	-	12	4376	c.4129C>T	c.(4129-4131)Ctg>Ttg	p.L1377L	TRANK1_ENST00000428977.2_Silent_p.L827L|TRANK1_ENST00000301807.6_Silent_p.L827L	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	1377					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						AGCTTCGACAGCCTCCGGGAT	0.502													51	90					0	0	1	0	0	A	36896952	G	A	36896952	2	1	81	1	0	0	0	0	0	0	0	1	16515	962	34	2		2	TRANK1	3	36896952	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	17081	36896952	161125478	2813	6429											
TRANK1	9881	broad.mit.edu	37	3	36897304	36897304	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:36897304C>A	ENST00000429976.2	-	12	4024	c.3777G>T	c.(3775-3777)gaG>gaT	p.E1259D	TRANK1_ENST00000428977.2_Missense_Mutation_p.E709D|TRANK1_ENST00000301807.6_Missense_Mutation_p.E709D	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	1259					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						CTTTATCCTCCTCACTGTAGT	0.483													13	140					0.00010058	0.000110448	1	1	0	A	36897304	C	A	36897304	3	1	81	1	0	0	0	0	1	0	0	0	16515	680	24	4	5048	4	TRANK1	3	36897304	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	352	36897304	161125126	2814	6430											
TRANK1	9881	broad.mit.edu	37	3	36898233	36898233	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:36898233G>T	ENST00000429976.2	-	12	3095	c.2848C>A	c.(2848-2850)Cgc>Agc	p.R950S	TRANK1_ENST00000428977.2_Missense_Mutation_p.R400S|TRANK1_ENST00000301807.6_Missense_Mutation_p.R400S	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	950					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding	p.R400S(2)|p.R950S(1)		NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						ACATAGCAGCGAGGTATACGC	0.498													83	102					4.05715e-38	5.44277e-38	1	1	0	T	36898233	G	T	36898233	3	4	81	1	0	0	0	0	1	0	0	0	16515	1058	37	5	5977	5	TRANK1	3	36898233	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	929	36898233	161124197	2815	6431											
MLH1	4292	broad.mit.edu	37	3	37056036	37056036	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:37056036G>A	ENST00000231790.2	+	9	1006		c.e9+1		MLH1_ENST00000458205.2_Splice_Site|MLH1_ENST00000455445.2_Splice_Site|MLH1_ENST00000435176.1_Splice_Site|MLH1_ENST00000539477.1_Splice_Site|MLH1_ENST00000536378.1_Splice_Site	NM_000249.3|NM_001258273.1	NP_000240.1|NP_001245202.1	P40692	MLH1_HUMAN	mutL homolog 1						mismatch repair|somatic hypermutation of immunoglobulin genes	chiasma|MutLalpha complex|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|protein binding	p.?(8)|p.0?(1)		NS(1)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(54)|lung(13)|oesophagus(7)|ovary(6)|pancreas(5)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	127						TTCATCAACCGTAAGTTAAAA	0.378		1	"D, Mis, N, F, S"		"colorectal, endometrial, ovarian, CNS"	"colorectal, endometrial, ovarian, CNS"		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				8	17					0	0	1	0	0	A	37056036	G	A	37056036	5	1	81	1	0	0	0	0	0	0	1	0	9665	1159	40	1	825	1	MLH1	3	37056036	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	157803	37056036	160966394	2816	6432											
MLH1	4292	broad.mit.edu	37	3	37067299	37067299	+	Missense_Mutation	SNP	C	C	A	rs63751015		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:37067299C>A	ENST00000231790.2	+	12	1426	c.1210C>A	c.(1210-1212)Ctg>Atg	p.L404M	MLH1_ENST00000458205.2_Missense_Mutation_p.L163M|MLH1_ENST00000455445.2_Missense_Mutation_p.L163M|MLH1_ENST00000435176.1_Missense_Mutation_p.L306M|MLH1_ENST00000539477.1_Missense_Mutation_p.L163M|MLH1_ENST00000536378.1_Missense_Mutation_p.L163M	NM_000249.3|NM_001258273.1	NP_000240.1|NP_001245202.1	P40692	MLH1_HUMAN	mutL homolog 1	404					mismatch repair|somatic hypermutation of immunoglobulin genes	chiasma|MutLalpha complex|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|protein binding	p.0?(1)		NS(1)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(54)|lung(13)|oesophagus(7)|ovary(6)|pancreas(5)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	127						GAGCAAACCCCTGTCCAGTCA	0.517		1	"D, Mis, N, F, S"		"colorectal, endometrial, ovarian, CNS"	"colorectal, endometrial, ovarian, CNS"		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				6	85					5.18039e-06	5.88187e-06	1	1	0	A	37067299	C	A	37067299	3	1	81	1	0	0	0	0	1	0	0	0	9665	680	24	4	1256	4	MLH1	3	37067299	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	11263	37067299	160955131	2817	6433											
LRRFIP2	9209	broad.mit.edu	37	3	37107390	37107390	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:37107390T>G	ENST00000421307.1	-	24	2032	c.1610A>C	c.(1609-1611)gAt>gCt	p.D537A	LRRFIP2_ENST00000421276.2_Missense_Mutation_p.D240A|LRRFIP2_ENST00000396428.2_Missense_Mutation_p.D319A|LRRFIP2_ENST00000354379.4_Missense_Mutation_p.D216A|LRRFIP2_ENST00000336686.4_Missense_Mutation_p.D537A|LRRFIP2_ENST00000440230.1_Missense_Mutation_p.D240A	NM_006309.2	NP_006300.1	Q9Y608	LRRF2_HUMAN	leucine rich repeat (in FLII) interacting protein 2	537					Wnt receptor signaling pathway		LRR domain binding	p.0?(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22						ATGACTGACATCACCATTGGG	0.512													27	53					0	0	1	0	0	G	37107390	T	G	37107390	3	3	81	1	0	0	0	0	1	0	0	0	9073	1435	50	4	579	4	LRRFIP2	3	37107390	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	40091	37107390	160915040	2818	6434											
C3orf35	339883	broad.mit.edu	37	3	37458932	37458932	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:37458932C>T	ENST00000328376.5	+	5	1154	c.175C>T	c.(175-177)Cag>Tag	p.Q59*	C3orf35_ENST00000425932.1_Nonsense_Mutation_p.Q59*|C3orf35_ENST00000426078.1_Nonsense_Mutation_p.Q59*|C3orf35_ENST00000425564.2_Nonsense_Mutation_p.Q59*|C3orf35_ENST00000452017.2_Nonsense_Mutation_p.Q59*|C3orf35_ENST00000481400.1_Intron	NM_178339.2	NP_848029.2	Q8IVJ8	APRG1_HUMAN	chromosome 3 open reading frame 35	59						integral to membrane				NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|urinary_tract(1)	11						GATGGGCCTGCAGGGCAGTGC	0.453													30	44					0	0	1	0	0	T	37458932	C	T	37458932	4	4	81	1	0	0	0	0	0	1	0	0	2239	711	25	2	177	2	C3orf35	3	37458932	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	351542	37458932	160563498	2819	6435											
ITGA9	3680	broad.mit.edu	37	3	37544692	37544692	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:37544692A>G	ENST00000264741.5	+	6	892	c.636A>G	c.(634-636)ccA>ccG	p.P212P	ITGA9_ENST00000422441.1_Silent_p.P212P	NM_002207.2	NP_002198.2	Q13797	ITA9_HUMAN	integrin, alpha 9	212					axon guidance|cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(17)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|urinary_tract(1)	44				KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197)		TGGGTGCTCCAGGGTCATTTT	0.488													5	67					0	0	1	0	0	G	37544692	A	G	37544692	2	3	81	1	0	0	0	0	0	0	0	1	7927	175	7	3		3	ITGA9	3	37544692	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	85760	37544692	160477738	2820	6436											
CTDSPL	10217	broad.mit.edu	37	3	38022346	38022346	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:38022346C>A	ENST00000443503.2	+	7	1026	c.786C>A	c.(784-786)ctC>ctA	p.L262L	CTDSPL_ENST00000310189.3_3'UTR|CTDSPL_ENST00000273179.5_Silent_p.L273L	NM_005808.2	NP_005799.2	O15194	CTDSL_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase-like	273						nucleus	metal ion binding|phosphoprotein phosphatase activity			breast(1)|endometrium(2)|large_intestine(4)|skin(1)	8		Melanoma(1037;0.0122)		KIRC - Kidney renal clear cell carcinoma(284;0.0729)|Kidney(284;0.0902)		TGCACAGACTCTGCAATAGGT	0.622													10	25					0.000673444	0.000721718	1	1	0	A	38022346	C	A	38022346	2	1	81	1	0	0	0	0	0	0	0	1	4029	900	32	4		4	CTDSPL	3	38022346	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	477654	38022346	160000084	2821	6437											
VILL	50853	broad.mit.edu	37	3	38042993	38042993	+	Missense_Mutation	SNP	G	G	A	rs35351971	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:38042993G>A	ENST00000283713.6	+	12	1495	c.1229G>A	c.(1228-1230)cGt>cAt	p.R410H	VILL_ENST00000383759.2_Missense_Mutation_p.R410H|VILL_ENST00000465644.1_Missense_Mutation_p.R128H			O15195	VILL_HUMAN	villin-like	410					actin filament capping|cytoskeleton organization	actin cytoskeleton	actin binding|structural constituent of cytoskeleton			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|urinary_tract(2)	28				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		GACCCCAAGCGTCATGGACAG	0.587													19	24					0	0	1	0	0	A	38042993	G	A	38042993	3	1	81	1	0	0	0	0	1	0	0	0	17225	1145	40	1	1271	1	VILL	3	38042993	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	20647	38042993	159979437	2822	6438											
VILL	50853	broad.mit.edu	37	3	38047959	38047959	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:38047959T>C	ENST00000283713.6	+	19	2491	c.2225T>C	c.(2224-2226)cTa>cCa	p.L742P	VILL_ENST00000383759.2_Missense_Mutation_p.L742P|VILL_ENST00000465644.1_Missense_Mutation_p.L460P			O15195	VILL_HUMAN	villin-like	742					actin filament capping|cytoskeleton organization	actin cytoskeleton	actin binding|structural constituent of cytoskeleton			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|urinary_tract(2)	28				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		AACTTGCGGCTATCCAGATGG	0.622													9	93					0	0	1	0	0	C	38047959	T	C	38047959	3	2	81	1	0	0	0	0	1	0	0	0	17225	1522	53	3	2295	3	VILL	3	38047959	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	4966	38047959	159974471	2823	6439											
PLCD1	5333	broad.mit.edu	37	3	38049554	38049554	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:38049554C>A	ENST00000463876.1	-	14	2552	c.2199G>T	c.(2197-2199)aaG>aaT	p.K733N	PLCD1_ENST00000334661.4_Missense_Mutation_p.K712N	NM_001130964.1	NP_001124436.1	P51178	PLCD1_HUMAN	phospholipase C, delta 1	712					intracellular signal transduction|lipid catabolic process|phospholipid metabolic process	cytoplasm	calcium ion binding|GTPase activating protein binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653)		TGAAGTCATTCTTGGAGGAGG	0.542													21	31					6.21321e-17	7.99314e-17	1	1	0	A	38049554	C	A	38049554	3	1	81	1	0	0	0	0	1	0	0	0	12079	912	32	4	142	4	PLCD1	3	38049554	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1595	38049554	159972876	2824	6440											
PLCD1	5333	broad.mit.edu	37	3	38049632	38049632	+	Silent	SNP	C	C	T	rs148090621		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:38049632C>T	ENST00000463876.1	-	14	2474	c.2121G>A	c.(2119-2121)acG>acA	p.T707T	PLCD1_ENST00000334661.4_Silent_p.T686T	NM_001130964.1	NP_001124436.1	P51178	PLCD1_HUMAN	phospholipase C, delta 1	686	C2.				intracellular signal transduction|lipid catabolic process|phospholipid metabolic process	cytoplasm	calcium ion binding|GTPase activating protein binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653)		ACGCAAACTCCGTGTCCCACC	0.542													38	60					0	0	1	0	0	T	38049632	C	T	38049632	2	4	81	1	0	0	0	0	0	0	0	1	12079	639	23	1		1	PLCD1	3	38049632	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	78	38049632	159972798	2825	6441											
DLEC1	9940	broad.mit.edu	37	3	38105394	38105394	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:38105394T>C	ENST00000308059.6	+	6	1178	c.1157T>C	c.(1156-1158)aTt>aCt	p.I386T	DLEC1_ENST00000452631.2_Missense_Mutation_p.I386T|DLEC1_ENST00000346219.3_Missense_Mutation_p.I386T|DLEC1_ENST00000469151.1_3'UTR			Q9Y238	DLEC1_HUMAN	deleted in lung and esophageal cancer 1	386					negative regulation of cell proliferation	cytoplasm				NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		GATTATGAAATTGGTCCAGTT	0.368													9	108					0	0	1	0	0	C	38105394	T	C	38105394	3	2	81	1	0	0	0	0	1	0	0	0	4580	1493	52	3	1179	3	DLEC1	3	38105394	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	55762	38105394	159917036	2826	6442											
ACAA1	30	broad.mit.edu	37	3	38164583	38164583	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:38164583C>T	ENST00000333167.8	-	12	1402	c.1230G>A	c.(1228-1230)ggG>ggA	p.G410G	ACAA1_ENST00000301810.7_Silent_p.G317G|ACAA1_ENST00000480865.1_5'UTR|DLEC1_ENST00000308059.6_3'UTR|ACAA1_ENST00000450296.1_Silent_p.G369G	NM_001607.3	NP_001598.1	P09110	THIK_HUMAN	acetyl-CoA acyltransferase 1	410					fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy	peroxisomal matrix	acetyl-CoA C-acyltransferase activity|protein binding			endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)	9				KIRC - Kidney renal clear cell carcinoma(284;0.0523)|Kidney(284;0.0657)		CCATTCCAGTCCCGATGCACA	0.567													16	26					0	0	1	0	0	T	38164583	C	T	38164583	2	4	81	1	0	0	0	0	0	0	0	1	104	842	30	2		2	ACAA1	3	38164583	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	59189	38164583	159857847	2827	6443											
ACAA1	30	broad.mit.edu	37	3	38175457	38175457	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:38175457G>A	ENST00000333167.8	-	3	481	c.309C>T	c.(307-309)atC>atT	p.I103I	ACAA1_ENST00000301810.7_Silent_p.I103I|ACAA1_ENST00000544624.1_5'UTR|ACAA1_ENST00000444607.2_Silent_p.I103I|ACAA1_ENST00000450296.1_Silent_p.I103I	NM_001607.3	NP_001598.1	P09110	THIK_HUMAN	acetyl-CoA acyltransferase 1	103					fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy	peroxisomal matrix	acetyl-CoA C-acyltransferase activity|protein binding	p.I103I(1)		endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)	9				KIRC - Kidney renal clear cell carcinoma(284;0.0523)|Kidney(284;0.0657)		GAAACTGGGCGATTCGGGCCA	0.537													17	22					0	0	1	0	0	A	38175457	G	A	38175457	2	1	81	1	0	0	0	0	0	0	0	1	104	1048	37	1		1	ACAA1	3	38175457	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	10874	38175457	159846973	2828	6444											
SLC22A13	9390	broad.mit.edu	37	3	38307385	38307385	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:38307385G>T	ENST00000311856.4	+	1	83	c.34G>T	c.(34-36)Ggt>Tgt	p.G12C		NM_004256.3	NP_004247.2	Q9Y226	S22AD_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 13	12						integral to plasma membrane	organic cation transmembrane transporter activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|urinary_tract(1)	20				KIRC - Kidney renal clear cell carcinoma(284;0.0533)|Kidney(284;0.067)		GGCTGAAATAGGTGACTTTGG	0.502													8	49					1.06961e-07	1.25755e-07	1	1	0	T	38307385	G	T	38307385	3	4	81	1	0	0	0	0	1	0	0	0	14499	1000	35	4	36	4	SLC22A13	3	38307385	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	131928	38307385	159715045	2829	6445											
SLC22A14	9389	broad.mit.edu	37	3	38347805	38347805	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:38347805C>A	ENST00000273173.4	+	1	379	c.288C>A	c.(286-288)ccC>ccA	p.P96P	SLC22A14_ENST00000448498.1_Silent_p.P96P	NM_004803.3	NP_004794.2	Q9Y267	S22AE_HUMAN	solute carrier family 22, member 14	96						integral to plasma membrane	organic cation transmembrane transporter activity			central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0554)|Kidney(284;0.0696)		CCCAGAAGCCCTATTGCAATA	0.547													7	70					0.248553	0.249876	1	1	0	A	38347805	C	A	38347805	2	1	81	1	0	0	0	0	0	0	0	1	14500	668	24	4		4	SLC22A14	3	38347805	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	40420	38347805	159674625	2830	6446											
EXOG	9941	broad.mit.edu	37	3	38537902	38537902	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:38537902G>A	ENST00000287675.5	+	1	140	c.44G>A	c.(43-45)cGt>cAt	p.R15H	EXOG_ENST00000422077.2_Missense_Mutation_p.R15H|EXOG_ENST00000358249.2_5'UTR	NM_005107.3	NP_005098.2	Q9Y2C4	EXOG_HUMAN	endo/exonuclease (5'-3'), endonuclease G-like	15						mitochondrial inner membrane	endonuclease activity|metal ion binding|nucleic acid binding			central_nervous_system(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	17						GGTTCCCGTCGTTTTCTGAGC	0.682											OREG0015479	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	18	16					0	0	1	0	0	A	38537902	G	A	38537902	3	1	81	1	0	0	0	0	1	0	0	0	5339	1145	40	1	46	1	EXOG	3	38537902	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	190097	38537902	159484528	2831	6447											
SCN5A	6331	broad.mit.edu	37	3	38618220	38618220	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:38618220G>A	ENST00000413689.1	-	19	3636	c.3443C>T	c.(3442-3444)gCt>gTt	p.A1148V	SCN5A_ENST00000423572.2_Missense_Mutation_p.A1147V|SCN5A_ENST00000443581.1_Missense_Mutation_p.A1147V|SCN5A_ENST00000450102.2_Missense_Mutation_p.A1094V|SCN5A_ENST00000333535.4_Missense_Mutation_p.A1148V|SCN5A_ENST00000455624.2_Missense_Mutation_p.A1147V|SCN5A_ENST00000425664.1_Missense_Mutation_p.A1148V|SCN5A_ENST00000451551.2_Missense_Mutation_p.A1094V|SCN5A_ENST00000449557.2_Missense_Mutation_p.A1094V|SCN5A_ENST00000414099.2_Missense_Mutation_p.A1148V	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1148					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	CAGGAGCTCAGCGGTGTTGGT	0.622													10	10					0	0	1	0	0	A	38618220	G	A	38618220	3	1	81	1	0	0	0	0	1	0	0	0	13976	971	34	2	2647	2	SCN5A	3	38618220	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	80318	38618220	159404210	2832	6448											
SCN5A	6331	broad.mit.edu	37	3	38662422	38662422	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:38662422T>C	ENST00000413689.1	-	5	716	c.523A>G	c.(523-525)Aag>Gag	p.K175E	SCN5A_ENST00000423572.2_Missense_Mutation_p.K175E|SCN5A_ENST00000443581.1_Missense_Mutation_p.K175E|SCN5A_ENST00000450102.2_Missense_Mutation_p.K175E|SCN5A_ENST00000333535.4_Missense_Mutation_p.K175E|SCN5A_ENST00000455624.2_Missense_Mutation_p.K175E|SCN5A_ENST00000425664.1_Missense_Mutation_p.K175E|SCN5A_ENST00000451551.2_Missense_Mutation_p.K175E|SCN5A_ENST00000449557.2_Missense_Mutation_p.K175E|SCN5A_ENST00000414099.2_Missense_Mutation_p.K175E	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	175					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	GCCAGAATCTTGACCAGAGAC	0.552													3	28					0	0	1	0	0	C	38662422	T	C	38662422	3	2	81	1	0	0	0	0	1	0	0	0	13976	1821	63	3	5719	3	SCN5A	3	38662422	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	44202	38662422	159360008	2833	6449											
SCN10A	6336	broad.mit.edu	37	3	38739556	38739556	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:38739556C>T	ENST00000449082.2	-	27	5154	c.5155G>A	c.(5155-5157)Gca>Aca	p.A1719T		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1719					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	AGAATCACTGCAATGTACATG	0.512													23	49					0	0	1	0	0	T	38739556	C	T	38739556	3	4	81	1	0	0	0	0	1	0	0	0	13966	710	25	2	719	2	SCN10A	3	38739556	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	77134	38739556	159282874	2834	6450											
SCN10A	6336	broad.mit.edu	37	3	38739839	38739839	+	Silent	SNP	G	G	A	rs149642957	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:38739839G>A	ENST00000449082.2	-	27	4871	c.4872C>T	c.(4870-4872)ttC>ttT	p.F1624F		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1624					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	TGGACATACCGAAGATAGAGT	0.527													10	102					0	0	1	0	0	A	38739839	G	A	38739839	2	1	81	1	0	0	0	0	0	0	0	1	13966	1049	37	1		1	SCN10A	3	38739839	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	283	38739839	159282591	2835	6451											
SCN10A	6336	broad.mit.edu	37	3	38739966	38739966	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:38739966C>T	ENST00000449082.2	-	27	4744	c.4745G>A	c.(4744-4746)cGc>cAc	p.R1582H		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1582					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	TCTGAGGATGCGGCCAATTCG	0.522													41	56					0	0	1	0	0	T	38739966	C	T	38739966	3	4	81	1	0	0	0	0	1	0	0	0	13966	768	27	1	1129	1	SCN10A	3	38739966	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	127	38739966	159282464	2836	6452											
SCN10A	6336	broad.mit.edu	37	3	38763774	38763774	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:38763774A>G	ENST00000449082.2	-	19	3481	c.3482T>C	c.(3481-3483)aTg>aCg	p.M1161T		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1161					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	GAGCAGGATCATGAAGATGAT	0.547													5	52					0	0	1	0	0	G	38763774	A	G	38763774	3	3	81	1	0	0	0	0	1	0	0	0	13966	217	8	3	2424	3	SCN10A	3	38763774	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	23808	38763774	159258656	2837	6453											
SCN10A	6336	broad.mit.edu	37	3	38766687	38766687	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:38766687G>A	ENST00000449082.2	-	17	3205	c.3206C>T	c.(3205-3207)tCt>tTt	p.S1069F		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1069					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	CTGAGGAACAGACTCATCTTT	0.602													11	21					0	0	1	0	0	A	38766687	G	A	38766687	3	1	81	1	0	0	0	0	1	0	0	0	13966	942	33	2	2708	2	SCN10A	3	38766687	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2913	38766687	159255743	2838	6454											
SCN10A	6336	broad.mit.edu	37	3	38781028	38781028	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:38781028G>T	ENST00000449082.2	-	14	2257	c.2258C>A	c.(2257-2259)tCt>tAt	p.S753Y		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	753					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	CCGCAGCACAGACAGGCTTCC	0.512													8	14					9.70103e-10	1.17698e-09	1	1	0	T	38781028	G	T	38781028	3	4	81	1	0	0	0	0	1	0	0	0	13966	942	33	4	3668	4	SCN10A	3	38781028	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	14341	38781028	159241402	2839	6455											
SCN10A	6336	broad.mit.edu	37	3	38793748	38793748	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:38793748G>A	ENST00000449082.2	-	11	1716	c.1717C>T	c.(1717-1719)Ccc>Tcc	p.P573S		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	573					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	TCACTAGTGGGCGGCGGTTGG	0.597													21	46					0	0	1	0	0	A	38793748	G	A	38793748	3	1	81	1	0	0	0	0	1	0	0	0	13966	1203	42	2	4221	2	SCN10A	3	38793748	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	12720	38793748	159228682	2840	6456											
SCN10A	6336	broad.mit.edu	37	3	38835327	38835327	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:38835327C>A	ENST00000449082.2	-	1	174	c.175G>T	c.(175-177)Gcc>Tcc	p.A59S		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	59					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	TGGTTGCAGGCTTTCAAGTCC	0.552													51	66					1.35964e-18	1.76607e-18	1	1	0	A	38835327	C	A	38835327	3	1	81	1	0	0	0	0	1	0	0	0	13966	797	28	4	5803	4	SCN10A	3	38835327	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	41579	38835327	159187103	2841	6457											
SCN11A	11280	broad.mit.edu	37	3	38908884	38908884	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:38908884G>T	ENST00000302328.3	-	23	4077	c.3879C>A	c.(3877-3879)atC>atA	p.I1293I	SCN11A_ENST00000456224.3_Silent_p.I1255I|SCN11A_ENST00000444237.2_Silent_p.I1293I|SCN11A_ENST00000450244.1_Silent_p.I1293I	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	1293					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	ATGAGCCAAAGATGATAAAGA	0.343													7	87					0.000157383	0.000171784	1	1	0	T	38908884	G	T	38908884	2	4	81	1	0	0	0	0	0	0	0	1	13967	932	33	4		4	SCN11A	3	38908884	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	73557	38908884	159113546	2842	6458											
SCN11A	11280	broad.mit.edu	37	3	38938518	38938518	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:38938518G>A	ENST00000302328.3	-	14	2419	c.2221C>T	c.(2221-2223)Ccg>Tcg	p.P741S	SCN11A_ENST00000456224.3_Missense_Mutation_p.P741S|SCN11A_ENST00000444237.2_Missense_Mutation_p.P741S|SCN11A_ENST00000450244.1_Missense_Mutation_p.P741S	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	741					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	GAGACTGTCGGGCCTGTCGGG	0.488													4	49					0	0	1	0	0	A	38938518	G	A	38938518	3	1	81	1	0	0	0	0	1	0	0	0	13967	1232	43	2	3206	2	SCN11A	3	38938518	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	29634	38938518	159083912	2843	6459											
GORASP1	64689	broad.mit.edu	37	3	39142345	39142345	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:39142345G>A	ENST00000319283.3	-	5	1280	c.459C>T	c.(457-459)atC>atT	p.I153I	GORASP1_ENST00000422110.2_Intron|GORASP1_ENST00000479927.1_Silent_p.I58I	NM_031899.2	NP_114105.1	Q9BQQ3	GORS1_HUMAN	golgi reassembly stacking protein 1, 65kDa	153					mitotic prophase|protein transport	cytosol|Golgi apparatus|membrane				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(1)|ovary(3)|urinary_tract(1)	14				KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653)		CATGAGACTCGATGAGCGTAA	0.542											OREG0015486	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	49	93					0	0	1	0	0	A	39142345	G	A	39142345	2	1	81	1	0	0	0	0	0	0	0	1	6614	1048	37	1		1	GORASP1	3	39142345	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	203827	39142345	158880085	2844	6460											
XIRP1	165904	broad.mit.edu	37	3	39226380	39226380	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:39226380C>A	ENST00000340369.3	-	2	4785	c.4557G>T	c.(4555-4557)gaG>gaT	p.E1519D	XIRP1_ENST00000396251.1_3'UTR|XIRP1_ENST00000421646.1_Missense_Mutation_p.E202D	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	1519							actin binding			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		CCACTGAGGCCTCGGGCTTTT	0.632													30	35					8.53417e-09	1.02079e-08	1	1	0	A	39226380	C	A	39226380	3	1	81	1	0	0	0	0	1	0	0	0	17489	680	24	4	978	4	XIRP1	3	39226380	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	84035	39226380	158796050	2845	6461											
XIRP1	165904	broad.mit.edu	37	3	39227239	39227239	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:39227239C>T	ENST00000340369.3	-	2	3926	c.3698G>A	c.(3697-3699)cGc>cAc	p.R1233H	XIRP1_ENST00000396251.1_Intron|XIRP1_ENST00000421646.1_Intron	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	1233							actin binding			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		CAGAATGTGGCGGCCTAGAGG	0.642													11	22					0	0	1	0	0	T	39227239	C	T	39227239	3	4	81	1	0	0	0	0	1	0	0	0	17489	768	27	1	1837	1	XIRP1	3	39227239	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	859	39227239	158795191	2846	6462											
XIRP1	165904	broad.mit.edu	37	3	39227602	39227602	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:39227602C>T	ENST00000340369.3	-	2	3563	c.3335G>A	c.(3334-3336)cGg>cAg	p.R1112Q	XIRP1_ENST00000396251.1_Missense_Mutation_p.R1112Q|XIRP1_ENST00000421646.1_Intron	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	1112							actin binding			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		TGCTGGGATCCGGGGATCACT	0.612													23	41					0	0	1	0	0	T	39227602	C	T	39227602	3	4	81	1	0	0	0	0	1	0	0	0	17489	652	23	1	2200	1	XIRP1	3	39227602	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	363	39227602	158794828	2847	6463											
XIRP1	165904	broad.mit.edu	37	3	39229155	39229155	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:39229155G>T	ENST00000340369.3	-	2	2010	c.1782C>A	c.(1780-1782)atC>atA	p.I594I	XIRP1_ENST00000396251.1_Silent_p.I594I|XIRP1_ENST00000421646.1_Intron	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	594	Interaction with CTNNB1 (By similarity).						actin binding			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		ACAACCACCGGATGGTCTGCA	0.587													30	33					9.65021e-13	1.21012e-12	1	1	0	T	39229155	G	T	39229155	2	4	81	1	0	0	0	0	0	0	0	1	17489	1164	41	5		5	XIRP1	3	39229155	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1553	39229155	158793275	2848	6464											
CX3CR1	1524	broad.mit.edu	37	3	39306959	39306959	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:39306959C>A	ENST00000541347.1	-	2	1281	c.1042G>T	c.(1042-1044)Gat>Tat	p.D348Y	CX3CR1_ENST00000399220.2_Missense_Mutation_p.D348Y|CX3CR1_ENST00000358309.3_Missense_Mutation_p.D380Y|CX3CR1_ENST00000542107.1_Missense_Mutation_p.D348Y	NM_001171171.1	NP_001164642.1	P49238	CX3C1_HUMAN	chemokine (C-X3-C motif) receptor 1	348					cell adhesion|cellular defense response|chemotaxis|interspecies interaction between organisms|response to wounding	integral to plasma membrane	chemokine receptor activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0557)|Kidney(284;0.0699)		GCATCTCCATCACTCGTGTGG	0.483													65	126					7.48145e-19	9.7255e-19	1	1	0	A	39306959	C	A	39306959	3	1	81	1	0	0	0	0	1	0	0	0	4098	826	29	5	29	5	CX3CR1	3	39306959	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	77804	39306959	158715471	2849	6465											
MYRIP	25924	broad.mit.edu	37	3	40192659	40192659	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:40192659G>A	ENST00000302541.6	+	4	795	c.453G>A	c.(451-453)gcG>gcA	p.A151A	MYRIP_ENST00000459828.1_3'UTR|MYRIP_ENST00000444716.1_Silent_p.A151A|MYRIP_ENST00000425621.1_Silent_p.A151A|MYRIP_ENST00000396217.3_Intron|MYRIP_ENST00000539167.1_5'UTR	NM_001284423.1|NM_001284426.1|NM_015460.2	NP_001271352.1|NP_001271355.1|NP_056275.2	Q8NFW9	MYRIP_HUMAN	myosin VIIA and Rab interacting protein	151	Myosin-binding.				intracellular protein transport		actin binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(2)|lung(10)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206)		AGAGTGGCGCGTGCTTCGACA	0.562													12	11					0	0	1	0	0	A	40192659	G	A	40192659	2	1	81	1	0	0	0	0	0	0	0	1	10148	1132	40	1		1	MYRIP	3	40192659	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	885700	40192659	157829771	2850	6466											
ENTPD3	956	broad.mit.edu	37	3	40457483	40457483	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:40457483C>T	ENST00000301825.3	+	7	868	c.750C>T	c.(748-750)taC>taT	p.Y250Y	ENTPD3_ENST00000456402.1_Silent_p.Y250Y|ENTPD3-AS1_ENST00000439293.1_RNA|ENTPD3_ENST00000445129.1_Silent_p.Y250Y|ENTPD3-AS1_ENST00000452768.1_RNA|ENTPD3-AS1_ENST00000425156.1_RNA	NM_001248.2	NP_001239.2	O75355	ENTP3_HUMAN	ectonucleoside triphosphate diphosphohydrolase 3	250						integral to membrane	ATP binding|hydrolase activity			endometrium(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				KIRC - Kidney renal clear cell carcinoma(284;0.0605)|Kidney(284;0.0758)		TGTATGGCTACGTATACACGC	0.537													8	15					0	0	1	0	0	T	40457483	C	T	40457483	2	4	81	1	0	0	0	0	0	0	0	1	5168	547	19	1		1	ENTPD3	3	40457483	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	264824	40457483	157564947	2851	6467											
ZNF621	285268	broad.mit.edu	37	3	40574286	40574286	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:40574286C>A	ENST00000339296.5	+	5	1477	c.1025C>A	c.(1024-1026)cCt>cAt	p.P342H	ZNF621_ENST00000490457.1_Intron|ZNF621_ENST00000431278.1_Missense_Mutation_p.P231H|ZNF621_ENST00000310898.1_Intron|ZNF621_ENST00000403205.2_Missense_Mutation_p.P342H	NM_198484.3	NP_940886.1	Q6ZSS3	ZN621_HUMAN	zinc finger protein 621	342					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0515)|Kidney(284;0.0648)		AAATTGCACCCTGTGGAGAAG	0.507													4	29					3.59834e-05	3.99423e-05	1	1	0	A	40574286	C	A	40574286	3	1	81	1	0	0	0	0	1	0	0	0	18102	681	24	4	1039	4	ZNF621	3	40574286	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	116803	40574286	157448144	2852	6468											
CCK	885	broad.mit.edu	37	3	42305084	42305084	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:42305084T>C	ENST00000396169.2	-	4	944	c.39A>G	c.(37-39)gtA>gtG	p.V13V	CCK_ENST00000334681.5_Silent_p.V13V|CCK_ENST00000434608.1_Silent_p.V13V	NM_000729.4	NP_000720.1	P06307	CCKN_HUMAN	cholecystokinin	13					axonogenesis|eating behavior|neuron migration		neuropeptide hormone activity			central_nervous_system(1)|large_intestine(1)|lung(3)|skin(1)	6		Ovarian(412;0.0728)		KIRC - Kidney renal clear cell carcinoma(284;0.219)		CAGCCGCCAGTACCGCCATCA	0.687													10	6					0	0	1	0	0	C	42305084	T	C	42305084	2	2	81	1	0	0	0	0	0	0	0	1	2899	1625	57	3		3	CCK	3	42305084	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	1730798	42305084	155717346	2853	6469											
VIPR1	7433	broad.mit.edu	37	3	42577643	42577643	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:42577643A>G	ENST00000433647.1	+	14	1745	c.1121A>G	c.(1120-1122)aAc>aGc	p.N374S	VIPR1_ENST00000543411.1_Missense_Mutation_p.N367S|VIPR1_ENST00000438259.2_Missense_Mutation_p.N205S|VIPR1_ENST00000325123.4_Missense_Mutation_p.N415S	NM_001251882.1	NP_001238811.1	P32241	VIPR1_HUMAN	vasoactive intestinal peptide receptor 1	415					digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|immune response|muscle contraction|positive regulation of cell proliferation|synaptic transmission	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|ovary(2)|skin(1)|urinary_tract(3)	18				KIRC - Kidney renal clear cell carcinoma(284;0.241)		CTGGGCTGGAACCCCAAATAC	0.701													3	6					0	0	1	0	0	G	42577643	A	G	42577643	3	3	81	1	0	0	0	0	1	0	0	0	17229	43	2	3	1294	3	VIPR1	3	42577643	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	272559	42577643	155444787	2854	6470											
NKTR	4820	broad.mit.edu	37	3	42674295	42674295	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:42674295A>G	ENST00000232978.8	+	9	941	c.753A>G	c.(751-753)aaA>aaG	p.K251K	RP4-613B23.1_ENST00000438017.1_RNA|RP4-613B23.1_ENST00000445452.1_RNA|RP4-613B23.1_ENST00000434363.1_RNA	NM_005385.3	NP_005376.2	P30414	NKTR_HUMAN	natural killer-tumor recognition sequence	251					protein folding	membrane	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	41				KIRC - Kidney renal clear cell carcinoma(284;0.24)		CAAGGAATAAACATGCAATGA	0.383													6	26					0	0	1	0	0	G	42674295	A	G	42674295	2	3	81	1	0	0	0	0	0	0	0	1	10495	40	2	3		3	NKTR	3	42674295	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	96652	42674295	155348135	2855	6471											
NKTR	4820	broad.mit.edu	37	3	42678574	42678574	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:42678574C>A	ENST00000232978.8	+	13	1566	c.1378C>A	c.(1378-1380)Ctt>Att	p.L460I	RP4-613B23.1_ENST00000438017.1_RNA|RP4-613B23.1_ENST00000445452.1_RNA|RP4-613B23.1_ENST00000434363.1_RNA	NM_005385.3	NP_005376.2	P30414	NKTR_HUMAN	natural killer-tumor recognition sequence	460					protein folding	membrane	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	41				KIRC - Kidney renal clear cell carcinoma(284;0.24)		GAGAAGGATTCTTATACCGTC	0.363													23	35					2.89027e-11	3.57291e-11	1	1	0	A	42678574	C	A	42678574	3	1	81	1	0	0	0	0	1	0	0	0	10495	913	32	4	1424	4	NKTR	3	42678574	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	4279	42678574	155343856	2856	6472											
NKTR	4820	broad.mit.edu	37	3	42678608	42678608	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:42678608C>T	ENST00000232978.8	+	13	1600	c.1412C>T	c.(1411-1413)tCc>tTc	p.S471F	RP4-613B23.1_ENST00000438017.1_RNA|RP4-613B23.1_ENST00000445452.1_RNA|RP4-613B23.1_ENST00000434363.1_RNA	NM_005385.3	NP_005376.2	P30414	NKTR_HUMAN	natural killer-tumor recognition sequence	471	Arg/Ser-rich.				protein folding	membrane	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	41				KIRC - Kidney renal clear cell carcinoma(284;0.24)		TCAAAATCTTCCACTCGAAGA	0.378													21	38					0	0	1	0	0	T	42678608	C	T	42678608	3	4	81	1	0	0	0	0	1	0	0	0	10495	855	30	2	1458	2	NKTR	3	42678608	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	34	42678608	155343822	2857	6473											
NKTR	4820	broad.mit.edu	37	3	42680894	42680894	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:42680894G>A	ENST00000232978.8	+	13	3886	c.3698G>A	c.(3697-3699)gGg>gAg	p.G1233E	RP4-613B23.1_ENST00000438017.1_RNA|RP4-613B23.1_ENST00000445452.1_RNA|RP4-613B23.1_ENST00000434363.1_RNA	NM_005385.3	NP_005376.2	P30414	NKTR_HUMAN	natural killer-tumor recognition sequence	1233					protein folding	membrane	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	41				KIRC - Kidney renal clear cell carcinoma(284;0.24)		CAAGGTGTGGGGAACCTGGCA	0.498													29	26					0	0	1	0	0	A	42680894	G	A	42680894	3	1	81	1	0	0	0	0	1	0	0	0	10495	1232	43	2	3744	2	NKTR	3	42680894	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2286	42680894	155341536	2858	6474											
ZBTB47	92999	broad.mit.edu	37	3	42701050	42701050	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:42701050G>A	ENST00000457842.3	+	2	1484	c.75G>A	c.(73-75)ggG>ggA	p.G25G	ZBTB47_ENST00000505904.1_Intron|ZBTB47_ENST00000232974.6_Silent_p.G401G	NM_145166.3	NP_660149.2	Q9UFB7	ZBT47_HUMAN	zinc finger and BTB domain containing 47	25					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(2)|lung(3)|ovary(1)	13				KIRC - Kidney renal clear cell carcinoma(284;0.216)		GGCGGGGTGGGAAGAGGCCAA	0.706													5	8					0	0	1	0	0	A	42701050	G	A	42701050	2	1	81	1	0	0	0	0	0	0	0	1	17607	1161	41	2		2	ZBTB47	3	42701050	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	20156	42701050	155321380	2859	6475											
CCDC13	152206	broad.mit.edu	37	3	42754752	42754752	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:42754752C>T	ENST00000310232.6	-	14	1858	c.1775G>A	c.(1774-1776)cGa>cAa	p.R592Q		NM_144719.3	NP_653320.3	Q8IYE1	CCD13_HUMAN	coiled-coil domain containing 13	592										endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	25						GGTGCGGTGTCGCTCCTCCTG	0.602													12	109					0	0	1	0	0	T	42754752	C	T	42754752	3	4	81	1	0	0	0	0	1	0	0	0	2783	884	31	1	384	1	CCDC13	3	42754752	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	53702	42754752	155267678	2860	6476											
CCDC13	152206	broad.mit.edu	37	3	42772013	42772013	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:42772013G>T	ENST00000310232.6	-	13	1747	c.1664C>A	c.(1663-1665)gCt>gAt	p.A555D		NM_144719.3	NP_653320.3	Q8IYE1	CCD13_HUMAN	coiled-coil domain containing 13	555										endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	25						CACCTCGGCAGCCTGCCAGAG	0.607													4	39					0.00024832	0.000269806	1	1	0	T	42772013	G	T	42772013	3	4	81	1	0	0	0	0	1	0	0	0	2783	971	34	4	499	4	CCDC13	3	42772013	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	17261	42772013	155250417	2861	6477											
ZNF662	389114	broad.mit.edu	37	3	42954792	42954792	+	Missense_Mutation	SNP	C	C	T	rs77247576	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:42954792C>T	ENST00000541208.1	+	4	620	c.251C>T	c.(250-252)cCg>cTg	p.P84L	ZNF662_ENST00000440367.2_Missense_Mutation_p.P84L|ZNF662_ENST00000328199.6_Intron|ZNF662_ENST00000422021.1_Intron|KRBOX1_ENST00000426937.1_Intron|ZNF662_ENST00000430067.2_3'UTR			Q6ZS27	ZN662_HUMAN	zinc finger protein 662	84					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|large_intestine(6)|lung(5)|upper_aerodigestive_tract(1)	15				KIRC - Kidney renal clear cell carcinoma(284;0.217)		CTGATTTGTCCGGGTAAGTGA	0.423													23	34					0	0	1	0	0	T	42954792	C	T	42954792	3	4	81	1	0	0	0	0	1	0	0	0	18128	652	23	1	448	1	ZNF662	3	42954792	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	182779	42954792	155067638	2862	6478											
ZNF662	389114	broad.mit.edu	37	3	42955844	42955844	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:42955844A>C	ENST00000541208.1	+	5	648	c.279A>C	c.(277-279)gaA>gaC	p.E93D	ZNF662_ENST00000440367.2_Missense_Mutation_p.E93D|ZNF662_ENST00000328199.6_Missense_Mutation_p.E119D|ZNF662_ENST00000422021.1_Intron|KRBOX1_ENST00000426937.1_Intron			Q6ZS27	ZN662_HUMAN	zinc finger protein 662	93					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|large_intestine(6)|lung(5)|upper_aerodigestive_tract(1)	15				KIRC - Kidney renal clear cell carcinoma(284;0.217)		GGAAGAAAGAAGATTTTATTC	0.423													37	41					0	0	1	0	0	C	42955844	A	C	42955844	3	2	81	1	0	0	0	0	1	0	0	0	18128	69	3	5	480	5	ZNF662	3	42955844	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	1052	42955844	155066586	2863	6479											
ZNF662	389114	broad.mit.edu	37	3	42956626	42956626	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:42956626A>G	ENST00000541208.1	+	5	1430	c.1061A>G	c.(1060-1062)cAc>cGc	p.H354R	ZNF662_ENST00000440367.2_Missense_Mutation_p.H354R|ZNF662_ENST00000328199.6_Missense_Mutation_p.H380R|ZNF662_ENST00000422021.1_Intron|KRBOX1_ENST00000426937.1_Intron			Q6ZS27	ZN662_HUMAN	zinc finger protein 662	354					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|large_intestine(6)|lung(5)|upper_aerodigestive_tract(1)	15				KIRC - Kidney renal clear cell carcinoma(284;0.217)		CAGAGGGTCCACACTGGGGAC	0.488													27	24					0	0	1	0	0	G	42956626	A	G	42956626	3	3	81	1	0	0	0	0	1	0	0	0	18128	159	6	3	1262	3	ZNF662	3	42956626	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	782	42956626	155065804	2864	6480											
ZNF662	389114	broad.mit.edu	37	3	42956680	42956680	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:42956680A>C	ENST00000541208.1	+	5	1484	c.1115A>C	c.(1114-1116)aAg>aCg	p.K372T	ZNF662_ENST00000440367.2_Missense_Mutation_p.K372T|ZNF662_ENST00000328199.6_Missense_Mutation_p.K398T|ZNF662_ENST00000422021.1_Intron|KRBOX1_ENST00000426937.1_Intron			Q6ZS27	ZN662_HUMAN	zinc finger protein 662	372					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|large_intestine(6)|lung(5)|upper_aerodigestive_tract(1)	15				KIRC - Kidney renal clear cell carcinoma(284;0.217)		TTCTTTTGCAAGGCACATCTT	0.443													8	53					0	0	1	0	0	C	42956680	A	C	42956680	3	2	81	1	0	0	0	0	1	0	0	0	18128	72	3	5	1316	5	ZNF662	3	42956680	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	54	42956680	155065750	2865	6481											
SNRK	54861	broad.mit.edu	37	3	43389157	43389157	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:43389157G>A	ENST00000296088.7	+	7	1710	c.1406G>A	c.(1405-1407)cGg>cAg	p.R469Q	SNRK_ENST00000429705.2_Missense_Mutation_p.R469Q|SNRK_ENST00000454177.1_Missense_Mutation_p.R469Q|SNRK_ENST00000437827.1_Missense_Mutation_p.R263Q	NM_017719.4	NP_060189.3	Q9NRH2	SNRK_HUMAN	SNF related kinase	469					myeloid cell differentiation	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(5)|prostate(1)|skin(2)|stomach(1)	27				KIRC - Kidney renal clear cell carcinoma(284;0.0636)|Kidney(284;0.0792)		GTTTTGCGCCGGAAGCCATCT	0.527													8	65					0	0	1	0	0	A	43389157	G	A	43389157	3	1	81	1	0	0	0	0	1	0	0	0	14905	1116	39	1	1424	1	SNRK	3	43389157	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	432477	43389157	154633273	2866	6482											
SNRK	54861	broad.mit.edu	37	3	43389476	43389476	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:43389476C>T	ENST00000296088.7	+	7	2029	c.1725C>T	c.(1723-1725)ggC>ggT	p.G575G	SNRK_ENST00000429705.2_Silent_p.G575G|SNRK_ENST00000454177.1_Silent_p.G575G|SNRK_ENST00000437827.1_Silent_p.G369G	NM_017719.4	NP_060189.3	Q9NRH2	SNRK_HUMAN	SNF related kinase	575					myeloid cell differentiation	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(5)|prostate(1)|skin(2)|stomach(1)	27				KIRC - Kidney renal clear cell carcinoma(284;0.0636)|Kidney(284;0.0792)		GGCCCCCTGGCAGTGAGGGGG	0.632													5	52					0	0	1	0	0	T	43389476	C	T	43389476	2	4	81	1	0	0	0	0	0	0	0	1	14905	697	25	2		2	SNRK	3	43389476	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	319	43389476	154632954	2867	6483											
ZNF445	353274	broad.mit.edu	37	3	44488739	44488739	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:44488739A>G	ENST00000425708.2	-	7	2765	c.2424T>C	c.(2422-2424)caT>caC	p.H808H	ZNF445_ENST00000396077.2_Silent_p.H808H			P59923	ZN445_HUMAN	zinc finger protein 445	808					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|skin(3)	31				KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646)		GAATCCTCTGATGTCGGTAGA	0.443													9	74					0	0	1	0	0	G	44488739	A	G	44488739	2	3	81	1	0	0	0	0	0	0	0	1	17975	330	12	3		3	ZNF445	3	44488739	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	1099263	44488739	153533691	2868	6484											
ZNF445	353274	broad.mit.edu	37	3	44489264	44489264	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:44489264G>T	ENST00000425708.2	-	7	2240	c.1899C>A	c.(1897-1899)acC>acA	p.T633T	ZNF445_ENST00000396077.2_Silent_p.T633T			P59923	ZN445_HUMAN	zinc finger protein 445	633					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|skin(3)	31				KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646)		TCCATCTAAAGGTTTTCCTAC	0.413													10	133					2.74318e-10	3.35469e-10	1	1	0	T	44489264	G	T	44489264	2	4	81	1	0	0	0	0	0	0	0	1	17975	987	35	4		4	ZNF445	3	44489264	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	525	44489264	153533166	2869	6485											
ZNF445	353274	broad.mit.edu	37	3	44496714	44496714	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:44496714C>T	ENST00000425708.2	-	2	669	c.328G>A	c.(328-330)Gag>Aag	p.E110K	ZNF445_ENST00000396077.2_Missense_Mutation_p.E110K			P59923	ZN445_HUMAN	zinc finger protein 445	110	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|skin(3)	31				KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646)		ACCCGGAGCTCCCCAGGCAGG	0.612													14	34					0	0	1	0	0	T	44496714	C	T	44496714	3	4	81	1	0	0	0	0	1	0	0	0	17975	864	30	2	2791	2	ZNF445	3	44496714	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	7450	44496714	153525716	2870	6486											
ZNF660	285349	broad.mit.edu	37	3	44635693	44635693	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:44635693G>T	ENST00000322734.2	+	3	341	c.8G>T	c.(7-9)aGa>aTa	p.R3I	RP11-944L7.4_ENST00000457331.1_RNA	NM_173658.2	NP_775929.2	Q6AZW8	ZN660_HUMAN	zinc finger protein 660	3					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(2)|lung(4)	6				KIRC - Kidney renal clear cell carcinoma(197;0.0468)|Kidney(197;0.0585)		AAAATGAGGAGAAAGACAAGA	0.403													4	34					1.23904e-05	1.39156e-05	1	1	0	T	44635693	G	T	44635693	3	4	81	1	0	0	0	0	1	0	0	0	18127	942	33	4	10	4	ZNF660	3	44635693	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	138979	44635693	153386737	2871	6487											
ZNF660	285349	broad.mit.edu	37	3	44636358	44636358	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:44636358A>G	ENST00000322734.2	+	3	1006	c.673A>G	c.(673-675)Aaa>Gaa	p.K225E	RP11-944L7.4_ENST00000457331.1_RNA	NM_173658.2	NP_775929.2	Q6AZW8	ZN660_HUMAN	zinc finger protein 660	225					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(2)|lung(4)	6				KIRC - Kidney renal clear cell carcinoma(197;0.0468)|Kidney(197;0.0585)		TGAGTGTGGAAAAACTTTCAT	0.373													7	93					0	0	1	0	0	G	44636358	A	G	44636358	3	3	81	1	0	0	0	0	1	0	0	0	18127	15	1	3	675	3	ZNF660	3	44636358	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	665	44636358	153386072	2872	6488											
ZNF35	7584	broad.mit.edu	37	3	44701410	44701410	+	Nonsense_Mutation	SNP	C	C	T	rs148645131		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:44701410C>T	ENST00000396056.2	+	4	1790	c.1555C>T	c.(1555-1557)Cga>Tga	p.R519*	ZNF35_ENST00000542250.1_Nonsense_Mutation_p.R359*|RP11-944L7.4_ENST00000457331.1_RNA|ZNF35_ENST00000296092.3_3'UTR	NM_003420.3	NP_003411.3	P13682	ZNF35_HUMAN	zinc finger protein 35	519					cellular response to retinoic acid|spermatogenesis	nucleus|perinuclear region of cytoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(3)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	12		Ovarian(412;0.0228)		OV - Ovarian serous cystadenocarcinoma(275;2.49e-27)|KIRC - Kidney renal clear cell carcinoma(197;0.0475)|Kidney(197;0.0595)		ACACCTCATGCGACACCATAG	0.498													29	33					0	0	1	0	0	T	44701410	C	T	44701410	4	4	81	1	0	0	0	0	0	1	0	0	17919	760	27	1	1565	1	ZNF35	3	44701410	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	65052	44701410	153321020	2873	6489											
ZNF502	91392	broad.mit.edu	37	3	44763330	44763330	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:44763330C>T	ENST00000296091.4	+	4	1277	c.1021C>T	c.(1021-1023)Cat>Tat	p.H341Y	ZNF502_ENST00000436624.2_Missense_Mutation_p.H341Y|ZNF502_ENST00000449836.1_Missense_Mutation_p.H341Y	NM_001134440.1|NM_001282880.1|NM_033210.4	NP_001127912.1|NP_001269809.1|NP_149987.2	Q8TBZ5	ZN502_HUMAN	zinc finger protein 502	341					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(4)|large_intestine(8)|lung(4)|prostate(1)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.00855)|KIRC - Kidney renal clear cell carcinoma(197;0.0471)|Kidney(197;0.0589)		CCTCTCTCAGCATCAGAGAAT	0.403													20	56					0	0	1	0	0	T	44763330	C	T	44763330	3	4	81	1	0	0	0	0	1	0	0	0	18007	710	25	2	1027	2	ZNF502	3	44763330	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	61920	44763330	153259100	2874	6490											
KIF15	56992	broad.mit.edu	37	3	44893799	44893799	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:44893799C>T	ENST00000326047.4	+	34	4221	c.4072C>T	c.(4072-4074)Cga>Tga	p.R1358*	KIF15_ENST00000425755.1_Nonsense_Mutation_p.R993*	NM_020242.2	NP_064627.1	Q9NS87	KIF15_HUMAN	kinesin family member 15	1358					blood coagulation|cell proliferation|microtubule-based movement|mitosis	centrosome|cytosol|microtubule|plus-end kinesin complex|spindle	ATP binding|DNA binding|microtubule motor activity			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(5)	36				BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707)		GTACGTAGTGCGACTAAAGAA	0.358													15	37					0	0	1	0	0	T	44893799	C	T	44893799	4	4	81	1	0	0	0	0	0	1	0	0	8319	760	27	1	4206	1	KIF15	3	44893799	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	130469	44893799	153128631	2875	6491											
TGM4	7047	broad.mit.edu	37	3	44951682	44951682	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:44951682G>A	ENST00000296125.4	+	11	1496	c.1428G>A	c.(1426-1428)tcG>tcA	p.S476S		NM_003241.3	NP_003232.2	P49221	TGM4_HUMAN	transglutaminase 4	476					peptide cross-linking|protein polyamination		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	38				BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	L-Glutamine(DB00130)	TTCACATGTCGGTACAATCAG	0.483													7	84					0	0	1	0	0	A	44951682	G	A	44951682	2	1	81	1	0	0	0	0	0	0	0	1	15892	1103	39	1		1	TGM4	3	44951682	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	57883	44951682	153070748	2876	6492											
ZDHHC3	51304	broad.mit.edu	37	3	45000730	45000730	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:45000730G>A	ENST00000296127.3	-	2	472	c.199C>T	c.(199-201)Ctg>Ttg	p.L67L	ZDHHC3_ENST00000342790.4_Silent_p.L67L|ZDHHC3_ENST00000424952.2_Silent_p.L67L	NM_016598.2	NP_057682.1	Q9NYG2	ZDHC3_HUMAN	zinc finger, DHHC-type containing 3	67						Golgi membrane|integral to membrane	zinc ion binding			endometrium(1)|large_intestine(3)|lung(4)	8				BRCA - Breast invasive adenocarcinoma(193;0.00943)|KIRC - Kidney renal clear cell carcinoma(197;0.053)|Kidney(197;0.0665)		GATGGAATCAGCATGACAAAG	0.552													10	78					0	0	1	0	0	A	45000730	G	A	45000730	2	1	81	1	0	0	0	0	0	0	0	1	17674	962	34	2		2	ZDHHC3	3	45000730	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	49048	45000730	153021700	2877	6493											
CDCP1	64866	broad.mit.edu	37	3	45132744	45132744	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:45132744G>A	ENST00000296129.1	-	7	2048	c.1914C>T	c.(1912-1914)gtC>gtT	p.V638V		NM_022842.3	NP_073753.3	Q9H5V8	CDCP1_HUMAN	CUB domain containing protein 1	638						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)		TAGAGATGTTGACCCAGAAGC	0.577													24	45					0	0	1	0	0	A	45132744	G	A	45132744	2	1	81	1	0	0	0	0	0	0	0	1	3115	1277	45	2		2	CDCP1	3	45132744	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	132014	45132744	152889686	2878	6494											
CDCP1	64866	broad.mit.edu	37	3	45134805	45134805	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:45134805G>A	ENST00000296129.1	-	6	1725	c.1591C>T	c.(1591-1593)Cag>Tag	p.Q531*		NM_022842.3	NP_073753.3	Q9H5V8	CDCP1_HUMAN	CUB domain containing protein 1	531	CUB.					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)		GTCAGACCCTGCCTGGAGGCC	0.507													9	67					0	0	1	0	0	A	45134805	G	A	45134805	4	1	81	1	0	0	0	0	0	1	0	0	3115	1328	46	2	935	2	CDCP1	3	45134805	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2061	45134805	152887625	2879	6495											
CDCP1	64866	broad.mit.edu	37	3	45152200	45152200	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:45152200G>A	ENST00000296129.1	-	4	923	c.789C>T	c.(787-789)agC>agT	p.S263S	CDCP1_ENST00000425231.2_Silent_p.S263S	NM_022842.3	NP_073753.3	Q9H5V8	CDCP1_HUMAN	CUB domain containing protein 1	263						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)		GGAAGGAGACGCTGGCCCGCA	0.572													47	86					0	0	1	0	0	A	45152200	G	A	45152200	2	1	81	1	0	0	0	0	0	0	0	1	3115	1078	38	1		1	CDCP1	3	45152200	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	17395	45152200	152870230	2880	6496											
CDCP1	64866	broad.mit.edu	37	3	45160089	45160089	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:45160089C>T	ENST00000296129.1	-	2	241	c.107G>A	c.(106-108)cGa>cAa	p.R36Q	CDCP1_ENST00000425231.2_Missense_Mutation_p.R36Q|CDCP1_ENST00000490471.1_5'UTR	NM_022842.3	NP_073753.3	Q9H5V8	CDCP1_HUMAN	CUB domain containing protein 1	36						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)		GTTGCTTTCTCGTGGCAGAGC	0.458													16	38					0	0	1	0	0	T	45160089	C	T	45160089	3	4	81	1	0	0	0	0	1	0	0	0	3115	884	31	1	2443	1	CDCP1	3	45160089	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	7889	45160089	152862341	2881	6497											
LARS2	23395	broad.mit.edu	37	3	45441826	45441826	+	Silent	SNP	C	C	T	rs140105027	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:45441826C>T	ENST00000415258.1	+	3	465	c.324C>T	c.(322-324)agC>agT	p.S108S	LARS2_ENST00000414984.1_Intron|LARS2_ENST00000265537.3_Silent_p.S108S			Q15031	SYLM_HUMAN	leucyl-tRNA synthetase 2, mitochondrial	108					leucyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|leucine-tRNA ligase activity			endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18				BRCA - Breast invasive adenocarcinoma(193;0.0122)|KIRC - Kidney renal clear cell carcinoma(197;0.0313)|Kidney(197;0.0372)	L-Leucine(DB00149)	ACACCATCAGCGACACCATAG	0.507													37	42					0	0	1	0	0	T	45441826	C	T	45441826	2	4	81	1	0	0	0	0	0	0	0	1	8674	767	27	1		1	LARS2	3	45441826	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	281737	45441826	152580604	2882	6498											
LIMD1	8994	broad.mit.edu	37	3	45636938	45636938	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:45636938G>A	ENST00000273317.4	+	1	588	c.567G>A	c.(565-567)aaG>aaA	p.K189K	LIMD1_ENST00000440097.1_Silent_p.K189K|LIMD1_ENST00000465039.1_Intron	NM_014240.2	NP_055055.1	Q9UGP4	LIMD1_HUMAN	LIM domains containing 1	189					cytoplasmic mRNA processing body assembly|gene silencing by miRNA|multicellular organismal development|negative regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasmic mRNA processing body|nucleus|RNA-induced silencing complex	protein binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(193;0.011)|KIRC - Kidney renal clear cell carcinoma(197;0.0264)|Kidney(197;0.0315)		CAAGCCCAAAGTGGGGTGACA	0.597													7	61					0	0	1	0	0	A	45636938	G	A	45636938	2	1	81	1	0	0	0	0	0	0	0	1	8838	1020	36	2		2	LIMD1	3	45636938	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	195112	45636938	152385492	2883	6499											
LIMD1	8994	broad.mit.edu	37	3	45714235	45714235	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:45714235C>A	ENST00000273317.4	+	5	1716	c.1695C>A	c.(1693-1695)atC>atA	p.I565I	LIMD1_ENST00000440097.1_Silent_p.I565I|LIMD1_ENST00000465039.1_3'UTR	NM_014240.2	NP_055055.1	Q9UGP4	LIMD1_HUMAN	LIM domains containing 1	565	LIM zinc-binding 2.|Necessary for nuclear localization.				cytoplasmic mRNA processing body assembly|gene silencing by miRNA|multicellular organismal development|negative regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasmic mRNA processing body|nucleus|RNA-induced silencing complex	protein binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(193;0.011)|KIRC - Kidney renal clear cell carcinoma(197;0.0264)|Kidney(197;0.0315)		GCTGTGTCATCTGTAATGAGT	0.527													6	64					0.0215528	0.0221217	1	1	0	A	45714235	C	A	45714235	2	1	81	1	0	0	0	0	0	0	0	1	8838	903	32	4		4	LIMD1	3	45714235	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	77297	45714235	152308195	2884	6500											
SLC6A20	54716	broad.mit.edu	37	3	45801444	45801444	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:45801444C>T	ENST00000358525.4	-	10	1649	c.1534G>A	c.(1534-1536)Gta>Ata	p.V512I	SLC6A20_ENST00000456124.2_Missense_Mutation_p.V512I|SLC6A20_ENST00000353278.4_Missense_Mutation_p.V475I	NM_020208.3	NP_064593.1	Q9NP91	S6A20_HUMAN	solute carrier family 6 (proline IMINO transporter), member 20	512					cellular nitrogen compound metabolic process|glycine transport|proline transport	apical plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	p.V475L(1)|p.V512L(1)		breast(1)|endometrium(1)|large_intestine(6)|ovary(2)|skin(2)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.01)|KIRC - Kidney renal clear cell carcinoma(197;0.0225)|Kidney(197;0.0267)		AGTGGGCTTACGCCAGCCCAC	0.537													39	62					0	0	1	0	0	T	45801444	C	T	45801444	3	4	81	1	0	0	0	0	1	0	0	0	14739	536	19	1	252	1	SLC6A20	3	45801444	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	87209	45801444	152220986	2885	6501											
SLC6A20	54716	broad.mit.edu	37	3	45807174	45807174	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:45807174C>A	ENST00000358525.4	-	8	1273	c.1158G>T	c.(1156-1158)gaG>gaT	p.E386D	SLC6A20_ENST00000456124.2_Missense_Mutation_p.E386D|SLC6A20_ENST00000353278.4_Missense_Mutation_p.E349D|SLC6A20_ENST00000493980.1_5'UTR	NM_020208.3	NP_064593.1	Q9NP91	S6A20_HUMAN	solute carrier family 6 (proline IMINO transporter), member 20	386					cellular nitrogen compound metabolic process|glycine transport|proline transport	apical plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(1)|large_intestine(6)|ovary(2)|skin(2)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.01)|KIRC - Kidney renal clear cell carcinoma(197;0.0225)|Kidney(197;0.0267)		GCTGGGACACCTCCATGTTTT	0.577													4	51					0.014758	0.0152304	1	1	0	A	45807174	C	A	45807174	3	1	81	1	0	0	0	0	1	0	0	0	14739	680	24	4	636	4	SLC6A20	3	45807174	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	5730	45807174	152215256	2886	6502											
SLC6A20	54716	broad.mit.edu	37	3	45817434	45817434	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:45817434C>T	ENST00000358525.4	-	4	516	c.401G>A	c.(400-402)gGc>gAc	p.G134D	SLC6A20_ENST00000456124.2_Missense_Mutation_p.G134D|SLC6A20_ENST00000353278.4_Missense_Mutation_p.G134D	NM_020208.3	NP_064593.1	Q9NP91	S6A20_HUMAN	solute carrier family 6 (proline IMINO transporter), member 20	134					cellular nitrogen compound metabolic process|glycine transport|proline transport	apical plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(1)|large_intestine(6)|ovary(2)|skin(2)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.01)|KIRC - Kidney renal clear cell carcinoma(197;0.0225)|Kidney(197;0.0267)		CTCATCGTAGCCCGTGTGGTT	0.567													15	85					0	0	1	0	0	T	45817434	C	T	45817434	3	4	81	1	0	0	0	0	1	0	0	0	14739	739	26	2	1409	2	SLC6A20	3	45817434	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	10260	45817434	152204996	2887	6503											
LZTFL1	54585	broad.mit.edu	37	3	45870074	45870074	+	Nonsense_Mutation	SNP	C	C	A	rs146835760		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:45870074C>A	ENST00000296135.6	-	8	808	c.634G>T	c.(634-636)Gaa>Taa	p.E212*	LZTFL1_ENST00000539217.1_Nonsense_Mutation_p.E208*|LZTFL1_ENST00000536047.1_Nonsense_Mutation_p.E195*	NM_001276378.1|NM_020347.2	NP_001263307.1|NP_065080.1	Q9NQ48	LZTL1_HUMAN	leucine zipper transcription factor-like 1	212										endometrium(1)|large_intestine(2)|lung(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	8				BRCA - Breast invasive adenocarcinoma(193;0.00867)|KIRC - Kidney renal clear cell carcinoma(197;0.0177)|Kidney(197;0.0208)		ACAGTGTTTTCTAAGTTACTT	0.358													30	56					1.7881e-09	2.16277e-09	1	1	0	A	45870074	C	A	45870074	4	1	81	1	0	0	0	0	0	1	0	0	9182	922	32	4	277	4	LZTFL1	3	45870074	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	52640	45870074	152152356	2888	6504											
CCR9	10803	broad.mit.edu	37	3	45943196	45943196	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:45943196G>A	ENST00000357632.2	+	3	1096	c.916G>A	c.(916-918)Gcc>Acc	p.A306T	CCR9_ENST00000395963.2_Missense_Mutation_p.A294T|LZTFL1_ENST00000539217.1_Intron|CCR9_ENST00000355983.2_Missense_Mutation_p.A294T|LZTFL1_ENST00000536047.1_Intron|CCR9_ENST00000422395.1_3'UTR	NM_001256369.1|NM_031200.2	NP_001243298.1|NP_112477.1	P51686	CCR9_HUMAN	chemokine (C-C motif) receptor 9	306					cellular defense response|chemotaxis|elevation of cytosolic calcium ion concentration|immune response	integral to plasma membrane				breast(1)|endometrium(4)|large_intestine(8)|lung(2)|ovary(2)|prostate(2)|skin(1)	20				BRCA - Breast invasive adenocarcinoma(193;0.00118)|KIRC - Kidney renal clear cell carcinoma(197;0.0182)|Kidney(197;0.0214)		CCAGACCATCGCCTTCTTCCA	0.502													27	40					0	0	1	0	0	A	45943196	G	A	45943196	3	1	81	1	0	0	0	0	1	0	0	0	2970	1087	38	1	922	1	CCR9	3	45943196	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	73122	45943196	152079234	2889	6505											
FYCO1	79443	broad.mit.edu	37	3	45965194	45965194	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:45965194G>A	ENST00000296137.2	-	17	4520	c.4315C>T	c.(4315-4317)Cgc>Tgc	p.R1439C	FYCO1_ENST00000535325.1_Missense_Mutation_p.R1459C|FYCO1_ENST00000438446.1_Missense_Mutation_p.R110C	NM_024513.3	NP_078789.2	Q9BQS8	FYCO1_HUMAN	FYVE and coiled-coil domain containing 1	1439	GOLD.				transport	integral to membrane	metal ion binding|protein binding			NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		CCGGGTGTGCGAACCTTGAGC	0.557													27	42					0	0	1	0	0	A	45965194	G	A	45965194	3	1	81	1	0	0	0	0	1	0	0	0	6160	1058	37	1	129	1	FYCO1	3	45965194	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	21998	45965194	152057236	2890	6506											
FYCO1	79443	broad.mit.edu	37	3	46008666	46008666	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:46008666C>T	ENST00000296137.2	-	8	2365	c.2160G>A	c.(2158-2160)caG>caA	p.Q720Q	FYCO1_ENST00000535325.1_Silent_p.Q720Q	NM_024513.3	NP_078789.2	Q9BQS8	FYCO1_HUMAN	FYVE and coiled-coil domain containing 1	720					transport	integral to membrane	metal ion binding|protein binding			NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		CTGCCAGTTGCTGGCACTGCT	0.607													13	145					0	0	1	0	0	T	46008666	C	T	46008666	2	4	81	1	0	0	0	0	0	0	0	1	6160	796	28	2		2	FYCO1	3	46008666	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	43472	46008666	152013764	2891	6507											
CCR2	729230	broad.mit.edu	37	3	46399343	46399343	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:46399343G>A	ENST00000292301.4	+	2	810	c.325G>A	c.(325-327)Ggg>Agg	p.G109R	CCR2_ENST00000400888.2_Missense_Mutation_p.G109R|CCR2_ENST00000445132.2_Missense_Mutation_p.G109R|CCR2_ENST00000465202.1_Intron	NM_001123041.2	NP_001116513.2	P41597	CCR2_HUMAN	chemokine (C-C motif) receptor 2	109					astrocyte cell migration|blood vessel remodeling|cellular defense response|chemokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response|interspecies interaction between organisms|JAK-STAT cascade|monocyte extravasation|negative regulation of adenylate cyclase activity|negative regulation of angiogenesis|negative regulation of eosinophil degranulation|negative regulation of type 2 immune response|positive regulation of alpha-beta T cell proliferation|positive regulation of immune complex clearance by monocytes and macrophages|positive regulation of inflammatory response|positive regulation of interferon-gamma production|positive regulation of interleukin-2 production|positive regulation of monocyte chemotaxis|positive regulation of T cell chemotaxis|positive regulation of T cell extravasation|positive regulation of T-helper 1 type immune response|positive regulation of tumor necrosis factor biosynthetic process|regulation of vascular endothelial growth factor production|T-helper 17 cell chemotaxis	cytosol|dendrite|integral to plasma membrane|perikaryon|perinuclear region of cytoplasm|soluble fraction	C-C chemokine receptor activity|CCR2 chemokine receptor binding|protein homodimerization activity			breast(3)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)	14				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0174)|Kidney(197;0.0206)		GTGGGTCTTTGGGAATGCAAT	0.443													8	282					0	0	1	0	0	A	46399343	G	A	46399343	3	1	81	1	0	0	0	0	1	0	0	0	2963	1348	47	2	327	2	CCR2	3	46399343	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	390677	46399343	151623087	2892	6508											
LRRC2	79442	broad.mit.edu	37	3	46592989	46592989	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:46592989C>A	ENST00000395905.3	-	2	485	c.93G>T	c.(91-93)gaG>gaT	p.E31D	LRRC2_ENST00000496388.1_Intron|LRRC2_ENST00000296144.3_Missense_Mutation_p.E31D	NM_024512.4	NP_078788.2	Q9BYS8	LRRC2_HUMAN	leucine rich repeat containing 2	31										breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	17		Ovarian(412;0.0563)		OV - Ovarian serous cystadenocarcinoma(275;6.37e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00133)|KIRC - Kidney renal clear cell carcinoma(197;0.0214)|Kidney(197;0.0254)		GCCTTTCCACCTCCTTCTTCT	0.463													25	54					4.4004e-07	5.1096e-07	1	1	0	A	46592989	C	A	46592989	3	1	81	1	0	0	0	0	1	0	0	0	9021	680	24	4	1054	4	LRRC2	3	46592989	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	193646	46592989	151429441	2893	6509											
ALS2CL	259173	broad.mit.edu	37	3	46718343	46718343	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:46718343C>T	ENST00000318962.4	-	17	2010	c.1927G>A	c.(1927-1929)Gag>Aag	p.E643K	ALS2CL_ENST00000415953.1_Missense_Mutation_p.E643K|ALS2CL_ENST00000383742.3_5'UTR	NM_147129.3	NP_667340.2	Q60I27	AL2CL_HUMAN	ALS2 C-terminal like	643					endosome organization|regulation of Rho protein signal transduction		GTPase activator activity|identical protein binding|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(3)|stomach(2)	29				BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)		CCTCACCTCTCGCAGGACAGG	0.672													11	70					0	0	1	0	0	T	46718343	C	T	46718343	3	4	81	1	0	0	0	0	1	0	0	0	547	893	31	1	974	1	ALS2CL	3	46718343	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	125354	46718343	151304087	2894	6510											
ALS2CL	259173	broad.mit.edu	37	3	46722850	46722850	+	Missense_Mutation	SNP	C	C	T	rs117431144	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:46722850C>T	ENST00000318962.4	-	13	1405	c.1322G>A	c.(1321-1323)cGg>cAg	p.R441Q	ALS2CL_ENST00000415953.1_Missense_Mutation_p.R441Q	NM_147129.3	NP_667340.2	Q60I27	AL2CL_HUMAN	ALS2 C-terminal like	441					endosome organization|regulation of Rho protein signal transduction		GTPase activator activity|identical protein binding|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(3)|stomach(2)	29				BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)		AAATCCGTGCCGCAGGCCCTC	0.642													33	63					0	0	1	0	0	T	46722850	C	T	46722850	3	4	81	1	0	0	0	0	1	0	0	0	547	652	23	1	1595	1	ALS2CL	3	46722850	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	4507	46722850	151299580	2895	6511											
NBEAL2	23218	broad.mit.edu	37	3	47037063	47037063	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:47037063C>T	ENST00000450053.3	+	13	2017	c.1838C>T	c.(1837-1839)cCt>cTt	p.P613L	NBEAL2_ENST00000383740.2_5'UTR|NBEAL2_ENST00000292309.5_Missense_Mutation_p.P613L	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	613							binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		TGTCTGCACCCTATGGATACA	0.632													20	29					0	0	1	0	0	T	47037063	C	T	47037063	3	4	81	1	0	0	0	0	1	0	0	0	10237	681	24	2	1888	2	NBEAL2	3	47037063	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	314213	47037063	150985367	2896	6512											
NBEAL2	23218	broad.mit.edu	37	3	47041884	47041884	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:47041884G>A	ENST00000450053.3	+	27	4474	c.4295G>A	c.(4294-4296)aGc>aAc	p.S1432N	NBEAL2_ENST00000383740.2_5'UTR|NBEAL2_ENST00000292309.5_Missense_Mutation_p.S1248N	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	1432							binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		TCGAACACCAGCAACCCACAG	0.627													4	37					0	0	1	0	0	A	47041884	G	A	47041884	3	1	81	1	0	0	0	0	1	0	0	0	10237	971	34	2	4401	2	NBEAL2	3	47041884	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	4821	47041884	150980546	2897	6513											
NBEAL2	23218	broad.mit.edu	37	3	47043273	47043273	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:47043273G>A	ENST00000450053.3	+	30	4918	c.4739G>A	c.(4738-4740)gGc>gAc	p.G1580D	NBEAL2_ENST00000383740.2_5'UTR|NBEAL2_ENST00000292309.5_Missense_Mutation_p.G1396D	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	1580							binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		GCGCAGATTGGCCTACGGCTT	0.607													45	51					0	0	1	0	0	A	47043273	G	A	47043273	3	1	81	1	0	0	0	0	1	0	0	0	10237	1203	42	2	4857	2	NBEAL2	3	47043273	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1389	47043273	150979157	2898	6514											
NBEAL2	23218	broad.mit.edu	37	3	47044503	47044503	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:47044503G>A	ENST00000450053.3	+	34	5695	c.5516G>A	c.(5515-5517)cGt>cAt	p.R1839H	NBEAL2_ENST00000383740.2_Missense_Mutation_p.R118H|NBEAL2_ENST00000292309.5_Missense_Mutation_p.R1655H	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	1839							binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		TCACGCATGCGTCTGAAGCTG	0.592													12	19					0	0	1	0	0	A	47044503	G	A	47044503	3	1	81	1	0	0	0	0	1	0	0	0	10237	1145	40	1	5650	1	NBEAL2	3	47044503	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1230	47044503	150977927	2899	6515											
NBEAL2	23218	broad.mit.edu	37	3	47050155	47050155	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:47050155A>G	ENST00000450053.3	+	52	8203	c.8024A>G	c.(8023-8025)aAc>aGc	p.N2675S	NBEAL2_ENST00000383740.2_Missense_Mutation_p.N924S|NBEAL2_ENST00000292309.5_Missense_Mutation_p.N2491S	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	2675							binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		CTCCAACTAAACACGTAAGCC	0.572													11	17					0	0	1	0	0	G	47050155	A	G	47050155	3	3	81	1	0	0	0	0	1	0	0	0	10237	43	2	3	8230	3	NBEAL2	3	47050155	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	5652	47050155	150972275	2900	6516											
SETD2	29072	broad.mit.edu	37	3	47098653	47098653	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:47098653C>T	ENST00000409792.3	-	15	6663	c.6621G>A	c.(6619-6621)caG>caA	p.Q2207Q		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	2207	Low charge region.|Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		CCACCAAGGGCTGAGCATGAT	0.557			"N, F, S, Mis"		clear cell renal carcinoma								3	27					0	0	1	0	0	T	47098653	C	T	47098653	2	4	81	1	0	0	0	0	0	0	0	1	14185	796	28	2		2	SETD2	3	47098653	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	48498	47098653	150923777	2901	6517											
SETD2	29072	broad.mit.edu	37	3	47161785	47161785	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:47161785G>T	ENST00000409792.3	-	3	4383	c.4341C>A	c.(4339-4341)ccC>ccA	p.P1447P		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	1447					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		TGACACAGGAGGGCCCAACCA	0.478			"N, F, S, Mis"		clear cell renal carcinoma								7	92					2.0095e-06	2.30238e-06	1	1	0	T	47161785	G	T	47161785	2	4	81	1	0	0	0	0	0	0	0	1	14185	987	35	4		4	SETD2	3	47161785	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	63132	47161785	150860645	2902	6518											
SETD2	29072	broad.mit.edu	37	3	47163376	47163377	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:47163376_47163377insT	ENST00000409792.3	-	3	2791_2792	c.2749_2750insA	c.(2749-2751)agtfs	p.S917fs		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	917					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		AAACTCTGAACTTTTTTTACTC	0.431			"N, F, S, Mis"		clear cell renal carcinoma								44	105	---	---	---	---						T	47163377	-	T	47163376	7	5	81	1	0	1	1	0	0	0	0	0	14185	565	20	0	5020	0	SETD2	3	47163376	Frame_Shift_Ins	INS	-	TCGA-DU-6392-01A-11D-1705-08	1591	47163376	150859054	2903	6519											
SETD2	29072	broad.mit.edu	37	3	47163775	47163775	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:47163775G>T	ENST00000409792.3	-	3	2393	c.2351C>A	c.(2350-2352)tCt>tAt	p.S784Y		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	784					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		TTTGCAGCAAGAAACCCTCGT	0.393			"N, F, S, Mis"		clear cell renal carcinoma								16	122					1.52009e-12	1.903e-12	1	1	0	T	47163775	G	T	47163775	3	4	81	1	0	0	0	0	1	0	0	0	14185	942	33	4	5419	4	SETD2	3	47163775	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	399	47163775	150858655	2904	6520											
KIF9	64147	broad.mit.edu	37	3	47307308	47307308	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:47307308C>T	ENST00000335044.2	-	8	1185	c.828G>A	c.(826-828)gaG>gaA	p.E276E	KIF9_ENST00000487440.1_5'UTR|KIF9_ENST00000265529.3_Silent_p.E276E|KIF9_ENST00000452770.2_Silent_p.E276E|KIF9_ENST00000444589.2_Silent_p.E276E|KIF9_ENST00000352910.4_Silent_p.E183E	NM_001134878.1|NM_182902.3	NP_001128350.1|NP_878905.2	Q9HAQ2	KIF9_HUMAN	kinesin family member 9	276					blood coagulation|microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(15)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)	34		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000284)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		TGATGGCCTGCTCCAGGAATG	0.542													31	77					0	0	1	0	0	T	47307308	C	T	47307308	2	4	81	1	0	0	0	0	0	0	0	1	8352	796	28	2		2	KIF9	3	47307308	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	143533	47307308	150715122	2905	6521											
PTPN23	25930	broad.mit.edu	37	3	47450427	47450427	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:47450427T>C	ENST00000265562.4	+	16	1569	c.1492T>C	c.(1492-1494)Tgg>Cgg	p.W498R	PTPN23_ENST00000431726.1_Missense_Mutation_p.W372R	NM_015466.2	NP_056281.1	Q9H3S7	PTN23_HUMAN	protein tyrosine phosphatase, non-receptor type 23	498					cilium morphogenesis	cilium|cytoplasmic membrane-bounded vesicle|microtubule basal body	protein tyrosine phosphatase activity			breast(3)|central_nervous_system(1)|large_intestine(5)|lung(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GAGGCGAGAATGGGCCAAGTA	0.612													43	77					0	0	1	0	0	C	47450427	T	C	47450427	3	2	81	1	0	0	0	0	1	0	0	0	12840	1464	51	3	1554	3	PTPN23	3	47450427	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	143119	47450427	150572003	2906	6522											
SCAP	22937	broad.mit.edu	37	3	47459175	47459175	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:47459175C>T	ENST00000265565.5	-	17	3001	c.2589G>A	c.(2587-2589)ccG>ccA	p.P863P	SCAP_ENST00000441517.2_Silent_p.P607P|SCAP_ENST00000545718.1_Silent_p.P470P	NM_012235.2	NP_036367.2	Q12770	SCAP_HUMAN	SREBF chaperone	863	Interaction with SREBF2 (By similarity).|Poly-Pro.				cholesterol metabolic process|negative regulation of cholesterol biosynthetic process|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of transcription via sterol regulatory element binding involved in ER-nuclear sterol response pathway	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane	unfolded protein binding			endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	26				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)		AGAGGGAAGGCGGCGGAGGGC	0.662													3	12					0	0	1	0	0	T	47459175	C	T	47459175	2	4	81	1	0	0	0	0	0	0	0	1	13930	755	27	1		1	SCAP	3	47459175	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	8748	47459175	150563255	2907	6523											
SCAP	22937	broad.mit.edu	37	3	47459213	47459213	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:47459213T>C	ENST00000265565.5	-	17	2963	c.2551A>G	c.(2551-2553)Agc>Ggc	p.S851G	SCAP_ENST00000441517.2_Missense_Mutation_p.S595G|SCAP_ENST00000545718.1_Missense_Mutation_p.S458G	NM_012235.2	NP_036367.2	Q12770	SCAP_HUMAN	SREBF chaperone	851	Interaction with SREBF2 (By similarity).				cholesterol metabolic process|negative regulation of cholesterol biosynthetic process|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of transcription via sterol regulatory element binding involved in ER-nuclear sterol response pathway	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane	unfolded protein binding			endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	26				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)		AGGGGAGGGCTGTCCCCAGGC	0.662													9	9					0	0	1	0	0	C	47459213	T	C	47459213	3	2	81	1	0	0	0	0	1	0	0	0	13930	1580	55	3	1316	3	SCAP	3	47459213	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	38	47459213	150563217	2908	6524											
SCAP	22937	broad.mit.edu	37	3	47460252	47460252	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:47460252G>A	ENST00000265565.5	-	14	2434	c.2022C>T	c.(2020-2022)gaC>gaT	p.D674D	SCAP_ENST00000441517.2_Silent_p.D419D|SCAP_ENST00000545718.1_Silent_p.D282D	NM_012235.2	NP_036367.2	Q12770	SCAP_HUMAN	SREBF chaperone	674					cholesterol metabolic process|negative regulation of cholesterol biosynthetic process|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of transcription via sterol regulatory element binding involved in ER-nuclear sterol response pathway	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane	unfolded protein binding			endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	26				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)		CACTGCGGCCGTCCTGAGGGT	0.701													3	9					0	0	1	0	0	A	47460252	G	A	47460252	2	1	81	1	0	0	0	0	0	0	0	1	13930	1136	40	1		1	SCAP	3	47460252	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1039	47460252	150562178	2909	6525											
SCAP	22937	broad.mit.edu	37	3	47460853	47460853	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:47460853C>T	ENST00000265565.5	-	13	2317	c.1905G>A	c.(1903-1905)acG>acA	p.T635T	SCAP_ENST00000441517.2_Silent_p.T380T|SCAP_ENST00000545718.1_Silent_p.T243T	NM_012235.2	NP_036367.2	Q12770	SCAP_HUMAN	SREBF chaperone	635					cholesterol metabolic process|negative regulation of cholesterol biosynthetic process|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of transcription via sterol regulatory element binding involved in ER-nuclear sterol response pathway	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane	unfolded protein binding			endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	26				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)		AGCTGAAGAGCGTCGGCCAGT	0.577													11	25					0	0	1	0	0	T	47460853	C	T	47460853	2	4	81	1	0	0	0	0	0	0	0	1	13930	755	27	1		1	SCAP	3	47460853	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	601	47460853	150561577	2910	6526											
CSPG5	10675	broad.mit.edu	37	3	47614279	47614279	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:47614279C>T	ENST00000383738.2	-	3	3377	c.1279G>A	c.(1279-1281)Ggc>Agc	p.G427S	CSPG5_ENST00000264723.4_Missense_Mutation_p.G427S|CSPG5_ENST00000456150.1_Missense_Mutation_p.G289S	NM_001206943.1|NM_001206945.1	NP_001193872.1|NP_001193874.1	O95196	CSPG5_HUMAN	chondroitin sulfate proteoglycan 5 (neuroglycan C)	427					cell differentiation|intracellular transport|nervous system development|regulation of growth	endoplasmic reticulum membrane|Golgi-associated vesicle membrane|integral to plasma membrane|membrane fraction	growth factor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(2)	22				BRCA - Breast invasive adenocarcinoma(193;0.000266)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		GCAGCCGAGCCCACGGCCACG	0.582													16	27					0	0	1	0	0	T	47614279	C	T	47614279	3	4	81	1	0	0	0	0	1	0	0	0	3986	623	22	2	352	2	CSPG5	3	47614279	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	153426	47614279	150408151	2911	6527											
CSPG5	10675	broad.mit.edu	37	3	47618449	47618449	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:47618449C>T	ENST00000383738.2	-	2	3165	c.1067G>A	c.(1066-1068)gGc>gAc	p.G356D	CSPG5_ENST00000264723.4_Missense_Mutation_p.G356D|CSPG5_ENST00000456150.1_Missense_Mutation_p.G218D	NM_001206943.1|NM_001206945.1	NP_001193872.1|NP_001193874.1	O95196	CSPG5_HUMAN	chondroitin sulfate proteoglycan 5 (neuroglycan C)	356					cell differentiation|intracellular transport|nervous system development|regulation of growth	endoplasmic reticulum membrane|Golgi-associated vesicle membrane|integral to plasma membrane|membrane fraction	growth factor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(2)	22				BRCA - Breast invasive adenocarcinoma(193;0.000266)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		GCACTCAGTGCCATTTTCACT	0.642													9	95					0	0	1	0	0	T	47618449	C	T	47618449	3	4	81	1	0	0	0	0	1	0	0	0	3986	739	26	2	568	2	CSPG5	3	47618449	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	4170	47618449	150403981	2912	6528											
SMARCC1	6599	broad.mit.edu	37	3	47629740	47629740	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:47629740G>T	ENST00000254480.5	-	28	3396	c.3277C>A	c.(3277-3279)Ccg>Acg	p.P1093T	SMARCC1_ENST00000425518.1_5'UTR	NM_003074.3	NP_003065.3	Q92922	SMRC1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1	1093	Pro-rich.				chromatin remodeling|nervous system development|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex|WINAC complex	DNA binding|protein N-terminus binding|transcription coactivator activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33				BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)		GCAGGAGGCGGAGGGACCCCA	0.597													15	25					2.31682e-05	2.58805e-05	1	1	0	T	47629740	G	T	47629740	3	4	81	1	0	0	0	0	1	0	0	0	14829	1174	41	5	44	5	SMARCC1	3	47629740	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	11291	47629740	150392690	2913	6529											
SMARCC1	6599	broad.mit.edu	37	3	47663813	47663813	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:47663813C>A	ENST00000254480.5	-	25	2784	c.2665G>T	c.(2665-2667)Gaa>Taa	p.E889*	SMARCC1_ENST00000425518.1_5'UTR	NM_003074.3	NP_003065.3	Q92922	SMRC1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1	889					chromatin remodeling|nervous system development|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex|WINAC complex	DNA binding|protein N-terminus binding|transcription coactivator activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33				BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)		ATCTTTCTTTCTTCCACTGCA	0.373													58	87					2.66076e-39	3.57159e-39	1	1	0	A	47663813	C	A	47663813	4	1	81	1	0	0	0	0	0	1	0	0	14829	922	32	4	668	4	SMARCC1	3	47663813	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	34073	47663813	150358617	2914	6530											
SMARCC1	6599	broad.mit.edu	37	3	47703916	47703916	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:47703916C>T	ENST00000254480.5	-	20	2185	c.2066G>A	c.(2065-2067)aGt>aAt	p.S689N	SMARCC1_ENST00000425518.1_5'UTR	NM_003074.3	NP_003065.3	Q92922	SMRC1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1	689					chromatin remodeling|nervous system development|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex|WINAC complex	DNA binding|protein N-terminus binding|transcription coactivator activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33				BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)		TCCTGACTGACTGAAGGGGAC	0.512													11	28					0	0	1	0	0	T	47703916	C	T	47703916	3	4	81	1	0	0	0	0	1	0	0	0	14829	565	20	2	1287	2	SMARCC1	3	47703916	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	40103	47703916	150318514	2915	6531											
SMARCC1	6599	broad.mit.edu	37	3	47823105	47823105	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:47823105C>T	ENST00000254480.5	-	1	302	c.183G>A	c.(181-183)aaG>aaA	p.K61K	SMARCC1_ENST00000425518.1_Intron	NM_003074.3	NP_003065.3	Q92922	SMRC1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1	61					chromatin remodeling|nervous system development|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex|WINAC complex	DNA binding|protein N-terminus binding|transcription coactivator activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33				BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)		TCTTGTAGTGCTTGCCCAGCC	0.711													4	9					0	0	1	0	0	T	47823105	C	T	47823105	2	4	81	1	0	0	0	0	0	0	0	1	14829	796	28	2		2	SMARCC1	3	47823105	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	119189	47823105	150199325	2916	6532											
DHX30	22907	broad.mit.edu	37	3	47882639	47882639	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:47882639G>T	ENST00000446256.2	+	8	1094	c.522G>T	c.(520-522)caG>caT	p.Q174H	DHX30_ENST00000445061.1_Missense_Mutation_p.Q213H|DHX30_ENST00000348968.4_Missense_Mutation_p.Q185H|DHX30_ENST00000457607.1_Missense_Mutation_p.Q241H	NM_014966.3	NP_055781.2	Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 30	213						mitochondrial nucleoid	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		TGACCCAGCAGGATTCCCACG	0.567													5	15					1.23904e-05	1.39156e-05	1	1	0	T	47882639	G	T	47882639	3	4	81	1	0	0	0	0	1	0	0	0	4532	991	35	4	668	4	DHX30	3	47882639	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	59534	47882639	150139791	2917	6533											
DHX30	22907	broad.mit.edu	37	3	47888408	47888408	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:47888408T>C	ENST00000446256.2	+	12	2301	c.1729T>C	c.(1729-1731)Tac>Cac	p.Y577H	DHX30_ENST00000445061.1_Missense_Mutation_p.Y616H|DHX30_ENST00000348968.4_Missense_Mutation_p.Y588H|DHX30_ENST00000457607.1_Missense_Mutation_p.Y644H	NM_014966.3	NP_055781.2	Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 30	616	Helicase ATP-binding.					mitochondrial nucleoid	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		TGGCTTCATGTACCCAGTCAA	0.617													12	13					0	0	1	0	0	C	47888408	T	C	47888408	3	2	81	1	0	0	0	0	1	0	0	0	4532	1638	57	3	1891	3	DHX30	3	47888408	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	5769	47888408	150134022	2918	6534											
DHX30	22907	broad.mit.edu	37	3	47888776	47888776	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:47888776G>A	ENST00000446256.2	+	13	2398	c.1826G>A	c.(1825-1827)tGc>tAc	p.C609Y	DHX30_ENST00000445061.1_Missense_Mutation_p.C648Y|DHX30_ENST00000348968.4_Missense_Mutation_p.C620Y|DHX30_ENST00000457607.1_Missense_Mutation_p.C676Y	NM_014966.3	NP_055781.2	Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 30	648	Helicase ATP-binding.					mitochondrial nucleoid	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		GAGGATGAATGCGCACTCGAT	0.612													30	53					0	0	1	0	0	A	47888776	G	A	47888776	3	1	81	1	0	0	0	0	1	0	0	0	4532	1319	46	2	1992	2	DHX30	3	47888776	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	368	47888776	150133654	2919	6535											
DHX30	22907	broad.mit.edu	37	3	47889410	47889410	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:47889410G>A	ENST00000446256.2	+	15	2705	c.2133G>A	c.(2131-2133)ggG>ggA	p.G711G	DHX30_ENST00000445061.1_Silent_p.G750G|DHX30_ENST00000348968.4_Silent_p.G722G|DHX30_ENST00000457607.1_Silent_p.G778G	NM_014966.3	NP_055781.2	Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 30	750	Helicase C-terminal.					mitochondrial nucleoid	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		TGGACAGTGGGCTGCACAAGG	0.577													4	62					0	0	1	0	0	A	47889410	G	A	47889410	2	1	81	1	0	0	0	0	0	0	0	1	4532	1190	42	2		2	DHX30	3	47889410	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	634	47889410	150133020	2920	6536											
CDC25A	993	broad.mit.edu	37	3	48215880	48215880	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:48215880C>T	ENST00000302506.3	-	9	1232	c.824G>A	c.(823-825)aGa>aAa	p.R275K	CDC25A_ENST00000351231.3_Missense_Mutation_p.R235K|CDC25A_ENST00000459900.1_5'UTR	NM_001789.2	NP_001780.2	P30304	MPIP1_HUMAN	cell division cycle 25A	275					cell cycle checkpoint|cell division|cell proliferation|cellular response to UV|DNA replication|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitosis|regulation of cyclin-dependent protein kinase activity|S phase of mitotic cell cycle	cytosol|nucleoplasm	protein binding|protein tyrosine phosphatase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	20				BRCA - Breast invasive adenocarcinoma(193;0.000685)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684)		TCGTTCTGGTCTCTTCAACAC	0.507													5	54					0	0	1	0	0	T	48215880	C	T	48215880	3	4	81	1	0	0	0	0	1	0	0	0	3084	913	32	2	778	2	CDC25A	3	48215880	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	326470	48215880	149806550	2921	6537											
ZNF589	51385	broad.mit.edu	37	3	48310236	48310236	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:48310236G>T	ENST00000354698.3	+	4	1127	c.1055G>T	c.(1054-1056)aGa>aTa	p.R352I	ZNF589_ENST00000440261.2_Intron|ZNF589_ENST00000412564.1_Intron|ZNF589_ENST00000427617.2_Intron	NM_016089.2	NP_057173.2	Q86UQ0	ZN589_HUMAN	zinc finger protein 589	352					regulation of transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|lung(1)|ovary(1)|skin(1)	4				BRCA - Breast invasive adenocarcinoma(193;0.000649)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		AAGCACCAGAGAATTCACACG	0.478													37	64					1.07121e-22	1.40807e-22	1	1	0	T	48310236	G	T	48310236	3	4	81	1	0	0	0	0	1	0	0	0	18078	942	33	4	1069	4	ZNF589	3	48310236	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	94356	48310236	149712194	2922	6538											
PLXNB1	5364	broad.mit.edu	37	3	48459659	48459659	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:48459659C>T	ENST00000358536.4	-	15	3432	c.3163G>A	c.(3163-3165)Gag>Aag	p.E1055K	PLXNB1_ENST00000296440.6_Missense_Mutation_p.E1055K|PLXNB1_ENST00000358459.4_Missense_Mutation_p.E872K|PLXNB1_ENST00000456774.1_Missense_Mutation_p.E872K|PLXNB1_ENST00000448774.2_Intron	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN	plexin B1	1055					axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CCACAGGCCTCCCGGGTCACA	0.637													11	13					0	0	1	0	0	T	48459659	C	T	48459659	3	4	81	1	0	0	0	0	1	0	0	0	12171	864	30	2	3340	2	PLXNB1	3	48459659	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	149423	48459659	149562771	2923	6539											
PLXNB1	5364	broad.mit.edu	37	3	48460444	48460444	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:48460444C>T	ENST00000358536.4	-	13	3106	c.2837G>A	c.(2836-2838)gGc>gAc	p.G946D	PLXNB1_ENST00000296440.6_Missense_Mutation_p.G946D|PLXNB1_ENST00000358459.4_Missense_Mutation_p.G763D|PLXNB1_ENST00000456774.1_Missense_Mutation_p.G763D|PLXNB1_ENST00000448774.2_Intron	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN	plexin B1	946					axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GTCTCCTGGGCCATCCTGAGG	0.622													3	30					0	0	1	0	0	T	48460444	C	T	48460444	3	4	81	1	0	0	0	0	1	0	0	0	12171	739	26	2	3674	2	PLXNB1	3	48460444	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	785	48460444	149561986	2924	6540											
PLXNB1	5364	broad.mit.edu	37	3	48465435	48465435	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:48465435C>A	ENST00000358536.4	-	3	855	c.586G>T	c.(586-588)Gct>Tct	p.A196S	PLXNB1_ENST00000296440.6_Missense_Mutation_p.A196S|PLXNB1_ENST00000358459.4_Missense_Mutation_p.A196S|PLXNB1_ENST00000456774.1_Missense_Mutation_p.A196S|PLXNB1_ENST00000448774.2_Intron	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN	plexin B1	196	Sema.				axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GAGAAGGCAGCTTGGGGGTCG	0.662													4	5					0.00024832	0.000269806	1	1	0	A	48465435	C	A	48465435	3	1	81	1	0	0	0	0	1	0	0	0	12171	797	28	4	5965	4	PLXNB1	3	48465435	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	4991	48465435	149556995	2925	6541											
ATRIP	84126	broad.mit.edu	37	3	48498762	48498762	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:48498762C>A	ENST00000412052.1	+	5	958	c.496C>A	c.(496-498)Ctt>Att	p.L166I	ATRIP_ENST00000320211.3_Missense_Mutation_p.L259I|ATRIP_ENST00000346691.4_Missense_Mutation_p.L259I|ATRIP_ENST00000357105.6_Missense_Mutation_p.L132I	NM_001271023.1	NP_001257952.1	Q8WXE1	ATRIP_HUMAN	ATR interacting protein	259					DNA damage checkpoint|DNA repair|DNA replication	nucleoplasm	protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)	22				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TAACATGTCCCTTCCCCACCC	0.438								Other conserved DNA damage response genes					4	28					0.00909568	0.00944708	1	1	0	A	48498762	C	A	48498762	3	1	81	1	0	0	0	0	1	0	0	0	1203	681	24	4	793	4	ATRIP	3	48498762	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	33327	48498762	149523668	2926	6542											
ATRIP	84126	broad.mit.edu	37	3	48501694	48501694	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:48501694C>A	ENST00000412052.1	+	8	1424	c.962C>A	c.(961-963)cCt>cAt	p.P321H	ATRIP_ENST00000320211.3_Missense_Mutation_p.P414H|ATRIP_ENST00000346691.4_Missense_Mutation_p.P414H|ATRIP_ENST00000357105.6_Missense_Mutation_p.P287H	NM_001271023.1	NP_001257952.1	Q8WXE1	ATRIP_HUMAN	ATR interacting protein	414					DNA damage checkpoint|DNA repair|DNA replication	nucleoplasm	protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)	22				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TGCCAGCTTCCTGGAGCCGTG	0.592								Other conserved DNA damage response genes					9	112					1.12685e-05	1.27052e-05	1	1	0	A	48501694	C	A	48501694	3	1	81	1	0	0	0	0	1	0	0	0	1203	681	24	4	1271	4	ATRIP	3	48501694	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2932	48501694	149520736	2927	6543											
TREX1	11277	broad.mit.edu	37	3	48508920	48508920	+	Missense_Mutation	SNP	C	C	T	rs79318303		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:48508920C>T	ENST00000296443.9	+	3	1753	c.866C>T	c.(865-867)gCc>gTc	p.A289V	TREX1_ENST00000436480.2_Missense_Mutation_p.A289V|TREX1_ENST00000456089.1_Missense_Mutation_p.A150V|TREX1_ENST00000444177.1_Missense_Mutation_p.A279V|TREX1_ENST00000422277.2_Missense_Mutation_p.A344V|TREX1_ENST00000433541.1_Missense_Mutation_p.A150V			Q9NSU2	TREX1_HUMAN	three prime repair exonuclease 1	344					cell death|DNA recombination|DNA replication|mismatch repair	nuclear envelope	3'-5'-exodeoxyribonuclease activity|exodeoxyribonuclease III activity|metal ion binding|MutLalpha complex binding|MutSalpha complex binding|protein homodimerization activity|single-stranded DNA binding			breast(1)|kidney(1)|large_intestine(1)|lung(3)|skin(3)	9				BRCA - Breast invasive adenocarcinoma(193;0.000286)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		GGGCTGCTGGCCCCACTGGGT	0.592													30	33					0	0	1	0	0	T	48508920	C	T	48508920	3	4	81	1	0	0	0	0	1	0	0	0	16537	739	26	2	1033	2	TREX1	3	48508920	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	7226	48508920	149513510	2928	6544											
COL7A1	1294	broad.mit.edu	37	3	48605530	48605530	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:48605530C>T	ENST00000328333.8	-	105	7975	c.7868G>A	c.(7867-7869)gGc>gAc	p.G2623D	COL7A1_ENST00000454817.1_Missense_Mutation_p.G2591D	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	2623	Triple-helical region.		G -> C (in PR-DEB; dominant).		cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TACCTTGAGGCCCCGGGGACC	0.537													19	44					0	0	1	0	0	T	48605530	C	T	48605530	3	4	81	1	0	0	0	0	1	0	0	0	3727	739	26	2	1022	2	COL7A1	3	48605530	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	96610	48605530	149416900	2929	6545											
COL7A1	1294	broad.mit.edu	37	3	48608556	48608556	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:48608556G>T	ENST00000328333.8	-	93	7249	c.7142C>A	c.(7141-7143)cCt>cAt	p.P2381H	COL7A1_ENST00000454817.1_Missense_Mutation_p.P2349H	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	2381	Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		AGGGCCAGGAGGCCCAGGGGA	0.632													16	51					1.15088e-07	1.34837e-07	1	1	0	T	48608556	G	T	48608556	3	4	81	1	0	0	0	0	1	0	0	0	3727	1000	35	4	1796	4	COL7A1	3	48608556	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	3026	48608556	149413874	2930	6546											
COL7A1	1294	broad.mit.edu	37	3	48609476	48609476	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:48609476A>G	ENST00000328333.8	-	91	7133	c.7026T>C	c.(7024-7026)ggT>ggC	p.G2342G	COL7A1_ENST00000454817.1_Silent_p.G2310G	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	2342	Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GGCCAGCTTCACCCTGCACAG	0.662													4	11					0	0	1	0	0	G	48609476	A	G	48609476	2	3	81	1	0	0	0	0	0	0	0	1	3727	146	6	3		3	COL7A1	3	48609476	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	920	48609476	149412954	2931	6547											
COL7A1	1294	broad.mit.edu	37	3	48619141	48619141	+	Missense_Mutation	SNP	G	G	A	rs144663654		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:48619141G>A	ENST00000328333.8	-	48	4827	c.4720C>T	c.(4720-4722)Cgg>Tgg	p.R1574W	COL7A1_ENST00000454817.1_Missense_Mutation_p.R1574W	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	1574	Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TCACTTACCCGTTCCCCTTGG	0.582													8	95					0	0	1	0	0	A	48619141	G	A	48619141	3	1	81	1	0	0	0	0	1	0	0	0	3727	1144	40	1	4398	1	COL7A1	3	48619141	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	9665	48619141	149403289	2932	6548											
COL7A1	1294	broad.mit.edu	37	3	48624626	48624626	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:48624626G>T	ENST00000328333.8	-	23	3243	c.3136C>A	c.(3136-3138)Cca>Aca	p.P1046T	COL7A1_ENST00000454817.1_Missense_Mutation_p.P1046T	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	1046	Fibronectin type-III 9.|Nonhelical region (NC1).				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		ACTATACCTGGCGTCTGTGTG	0.612													4	13					3.59834e-05	3.99423e-05	1	1	0	T	48624626	G	T	48624626	3	4	81	1	0	0	0	0	1	0	0	0	3727	1203	42	5	6082	5	COL7A1	3	48624626	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	5485	48624626	149397804	2933	6549											
COL7A1	1294	broad.mit.edu	37	3	48627942	48627942	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:48627942C>T	ENST00000328333.8	-	14	1963	c.1856G>A	c.(1855-1857)gGa>gAa	p.G619E	COL7A1_ENST00000454817.1_Missense_Mutation_p.G619E	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	619	Fibronectin type-III 5.|Nonhelical region (NC1).				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		AGGGACGGGTCCCCAGGCCAC	0.592													14	24					0	0	1	0	0	T	48627942	C	T	48627942	3	4	81	1	0	0	0	0	1	0	0	0	3727	855	30	2	7398	2	COL7A1	3	48627942	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3316	48627942	149394488	2934	6550											
COL7A1	1294	broad.mit.edu	37	3	48629795	48629795	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:48629795C>T	ENST00000328333.8	-	8	1189	c.1082G>A	c.(1081-1083)cGg>cAg	p.R361Q	COL7A1_ENST00000454817.1_Missense_Mutation_p.R361Q	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	361	Fibronectin type-III 2.|Nonhelical region (NC1).				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		ACTGAGGACCCGCCATGTCAC	0.632													11	8					0	0	1	0	0	T	48629795	C	T	48629795	3	4	81	1	0	0	0	0	1	0	0	0	3727	652	23	1	8196	1	COL7A1	3	48629795	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1853	48629795	149392635	2935	6551											
UQCRC1	7384	broad.mit.edu	37	3	48638221	48638221	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:48638221C>A	ENST00000203407.5	-	9	1435	c.1019G>T	c.(1018-1020)aGt>aTt	p.S340I		NM_003365.2	NP_003356.2	P31930	QCR1_HUMAN	ubiquinol-cytochrome c reductase core protein I	340					aerobic respiration|proteolysis		metalloendopeptidase activity|ubiquinol-cytochrome-c reductase activity|zinc ion binding			breast(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)	Atovaquone(DB01117)	GGTCTGGAAACTCTGGCATAG	0.547													4	51					0.00024832	0.000269806	1	1	0	A	48638221	C	A	48638221	3	1	81	1	0	0	0	0	1	0	0	0	17079	565	20	4	443	4	UQCRC1	3	48638221	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	8426	48638221	149384209	2936	6552											
UQCRC1	7384	broad.mit.edu	37	3	48642153	48642153	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:48642153G>T	ENST00000203407.5	-	4	774	c.358C>A	c.(358-360)Ctt>Att	p.L120I		NM_003365.2	NP_003356.2	P31930	QCR1_HUMAN	ubiquinol-cytochrome c reductase core protein I	120					aerobic respiration|proteolysis		metalloendopeptidase activity|ubiquinol-cytochrome-c reductase activity|zinc ion binding			breast(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)	Atovaquone(DB01117)	TAGGCATTAAGATGGGCCCCC	0.557													14	16					2.23348e-06	2.55658e-06	1	1	0	T	48642153	G	T	48642153	3	4	81	1	0	0	0	0	1	0	0	0	17079	942	33	4	1124	4	UQCRC1	3	48642153	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	3932	48642153	149380277	2937	6553											
TMEM89	440955	broad.mit.edu	37	3	48659143	48659143	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:48659143G>A	ENST00000330862.3	-	1	145	c.47C>T	c.(46-48)aCg>aTg	p.T16M		NM_001008269.1	NP_001008270.1	A2RUT3	TMM89_HUMAN	transmembrane protein 89	16						integral to membrane				breast(1)|lung(1)|stomach(1)	3				BRCA - Breast invasive adenocarcinoma(193;0.000286)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		GGAGGCAGACGTCACCAGCAG	0.672													11	25					0	0	1	0	0	A	48659143	G	A	48659143	3	1	81	1	0	0	0	0	1	0	0	0	16273	1145	40	1	439	1	TMEM89	3	48659143	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	16990	48659143	149363287	2938	6554											
SLC26A6	65010	broad.mit.edu	37	3	48669381	48669381	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:48669381C>T	ENST00000358747.6	-	5	869	c.619G>A	c.(619-621)Gtc>Atc	p.V207I	SLC26A6_ENST00000395550.2_Missense_Mutation_p.V228I|SLC26A6_ENST00000482282.1_5'UTR|SLC26A6_ENST00000337000.8_Intron|SLC26A6_ENST00000455886.2_Missense_Mutation_p.R193H|SLC26A6_ENST00000383733.3_Missense_Mutation_p.V228I|SLC26A6_ENST00000420764.2_Missense_Mutation_p.V228I	NM_001040454.1	NP_001035544.1			solute carrier family 26 (anion exchanger), member 6										SLC26A6/PRKAR2A(2)	NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00609)		AGCTGTGAGACGAAGACCTGC	0.582													21	35					0	0	1	0	0	T	48669381	C	T	48669381	3	4	81	1	0	0	0	0	1	0	0	0	14576	536	19	1	1697	1	SLC26A6	3	48669381	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	10238	48669381	149353049	2939	6555											
CELSR3	1951	broad.mit.edu	37	3	48679324	48679324	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:48679324G>A	ENST00000544264.1	-	33	9079	c.8799C>T	c.(8797-8799)tgC>tgT	p.C2933C	CELSR3_ENST00000164024.4_Silent_p.C2928C			Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	2928					homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GGGCTGCTCGGCAGAGTGGCC	0.617													4	3					0	0	1	0	0	A	48679324	G	A	48679324	2	1	81	1	0	0	0	0	0	0	0	1	3245	1195	42	2		2	CELSR3	3	48679324	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	9943	48679324	149343106	2940	6556											
CELSR3	1951	broad.mit.edu	37	3	48685340	48685340	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:48685340C>T	ENST00000544264.1	-	21	7358	c.7078G>A	c.(7078-7080)Gat>Aat	p.D2360N	CELSR3_ENST00000164024.4_Missense_Mutation_p.D2355N			Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	2355					homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		TCCCAGGCATCCTGGCCTCGA	0.647													50	87					0	0	1	0	0	T	48685340	C	T	48685340	3	4	81	1	0	0	0	0	1	0	0	0	3245	855	30	2	2939	2	CELSR3	3	48685340	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	6016	48685340	149337090	2941	6557											
CELSR3	1951	broad.mit.edu	37	3	48689349	48689349	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:48689349G>A	ENST00000544264.1	-	12	6164	c.5884C>T	c.(5884-5886)Cgg>Tgg	p.R1962W	CELSR3_ENST00000164024.4_Missense_Mutation_p.R1962W			Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	1962	EGF-like 5; calcium-binding.				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CAGAGGTCCCGGCAGTCTGCG	0.657													37	67					0	0	1	0	0	A	48689349	G	A	48689349	3	1	81	1	0	0	0	0	1	0	0	0	3245	1115	39	1	4150	1	CELSR3	3	48689349	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	4009	48689349	149333081	2942	6558											
CELSR3	1951	broad.mit.edu	37	3	48689388	48689388	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:48689388C>T	ENST00000544264.1	-	12	6125	c.5845G>A	c.(5845-5847)Gcc>Acc	p.A1949T	CELSR3_ENST00000164024.4_Missense_Mutation_p.A1949T			Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	1949	EGF-like 5; calcium-binding.				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GAGGCACAGGCGTTGGTCACA	0.672													7	56					0	0	1	0	0	T	48689388	C	T	48689388	3	4	81	1	0	0	0	0	1	0	0	0	3245	768	27	1	4189	1	CELSR3	3	48689388	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	39	48689388	149333042	2943	6559											
CELSR3	1951	broad.mit.edu	37	3	48694281	48694281	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:48694281C>T	ENST00000544264.1	-	2	4529	c.4249G>A	c.(4249-4251)Gct>Act	p.A1417T	CELSR3_ENST00000164024.4_Missense_Mutation_p.A1417T			Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	1417	EGF-like 1; calcium-binding.				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CGCAGGCCAGCGATGGGCTGG	0.647													3	3					0	0	1	0	0	T	48694281	C	T	48694281	3	4	81	1	0	0	0	0	1	0	0	0	3245	768	27	1	5825	1	CELSR3	3	48694281	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	4893	48694281	149328149	2944	6560											
CELSR3	1951	broad.mit.edu	37	3	48694535	48694535	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:48694535G>A	ENST00000544264.1	-	2	4275	c.3995C>T	c.(3994-3996)gCg>gTg	p.A1332V	CELSR3_ENST00000164024.4_Missense_Mutation_p.A1332V			Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	1332					homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		TGGAGCTAGCGCCGAGAAACT	0.672													17	23					0	0	1	0	0	A	48694535	G	A	48694535	3	1	81	1	0	0	0	0	1	0	0	0	3245	1087	38	1	6079	1	CELSR3	3	48694535	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	254	48694535	149327895	2945	6561											
CELSR3	1951	broad.mit.edu	37	3	48697457	48697457	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:48697457G>A	ENST00000544264.1	-	1	2891	c.2611C>T	c.(2611-2613)Cgg>Tgg	p.R871W	CELSR3_ENST00000164024.4_Missense_Mutation_p.R871W			Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	871	Cadherin 6.				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		cccattggccgatcttcattc	0.507													24	34					0	0	1	0	0	A	48697457	G	A	48697457	3	1	81	1	0	0	0	0	1	0	0	0	3245	1057	37	1	7467	1	CELSR3	3	48697457	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2922	48697457	149324973	2946	6562											
NCKIPSD	51517	broad.mit.edu	37	3	48717251	48717251	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:48717251C>T	ENST00000294129.2	-	7	1452	c.1333G>A	c.(1333-1335)Gtg>Atg	p.V445M	NCKIPSD_ENST00000416649.2_Missense_Mutation_p.V438M|NCKIPSD_ENST00000341520.4_Missense_Mutation_p.V445M	NM_016453.2	NP_057537.1	Q9NZQ3	SPN90_HUMAN	NCK interacting protein with SH3 domain	445	Leu-rich.				cytoskeleton organization|NLS-bearing substrate import into nucleus|signal transduction	intermediate filament|nucleus	cytoskeletal protein binding|SH3 domain binding			endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		TAATAGGCCACCAAGGCCAGG	0.522													5	73					0	0	1	0	0	T	48717251	C	T	48717251	3	4	81	1	0	0	0	0	1	0	0	0	10272	507	18	2	863	2	NCKIPSD	3	48717251	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	19794	48717251	149305179	2947	6563											
IP6K2	51447	broad.mit.edu	37	3	48732511	48732511	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:48732511G>A	ENST00000431721.2	-	3	616	c.379C>T	c.(379-381)Ctg>Ttg	p.L127L	IP6K2_ENST00000446860.1_Silent_p.L130L|IP6K2_ENST00000443964.1_Silent_p.L131L|IP6K2_ENST00000449610.1_Silent_p.L72L|IP6K2_ENST00000340879.4_Intron|IP6K2_ENST00000436134.1_Intron|IP6K2_ENST00000453202.1_Silent_p.L72L|IP6K2_ENST00000413298.1_Intron|IP6K2_ENST00000432678.2_Intron|IP6K2_ENST00000417896.1_Silent_p.L72L|IP6K2_ENST00000328631.5_Intron|IP6K2_ENST00000450045.1_Intron	NM_001190316.1	NP_001177245.1	Q9UHH9	IP6K2_HUMAN	inositol hexakisphosphate kinase 2	158					negative regulation of cell growth|phosphatidylinositol phosphorylation|positive regulation of apoptosis|type I interferon-mediated signaling pathway	intermediate filament cytoskeleton|nucleus	ATP binding|inositol hexakisphosphate 5-kinase activity|inositol trisphosphate 3-kinase activity			biliary_tract(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	15						CCCTCCAGCAGCTGGGACTTA	0.597													5	48					0	0	1	0	0	A	48732511	G	A	48732511	2	1	81	1	0	0	0	0	0	0	0	1	7833	962	34	2		2	IP6K2	3	48732511	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	15260	48732511	149289919	2948	6564											
SLC25A20	788	broad.mit.edu	37	3	48896032	48896032	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:48896032C>A	ENST00000319017.4	-	8	949	c.751G>T	c.(751-753)Gat>Tat	p.D251Y	SLC25A20_ENST00000430379.1_Missense_Mutation_p.D178Y|SLC25A20_ENST00000544097.1_Missense_Mutation_p.D201Y	NM_000387.5	NP_000378.1	O43772	MCAT_HUMAN	solute carrier family 25 (carnitine/acylcarnitine translocase), member 20	251					carnitine shuttle|cellular lipid metabolic process|regulation of fatty acid oxidation	integral to membrane|mitochondrial inner membrane	acyl carnitine transporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|prostate(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.000168)|Kidney(197;0.00231)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)	L-Carnitine(DB00583)	CTCAGCACATCTCTGAAACCA	0.498													45	80					1.6237e-14	2.06075e-14	1	1	0	A	48896032	C	A	48896032	3	1	81	1	0	0	0	0	1	0	0	0	14538	913	32	4	162	4	SLC25A20	3	48896032	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	163521	48896032	149126398	2949	6565											
ARIH2	10425	broad.mit.edu	37	3	49004629	49004629	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:49004629T>C	ENST00000356401.4	+	6	798	c.459T>C	c.(457-459)tcT>tcC	p.S153S	ARIH2_ENST00000490095.1_3'UTR|ARIH2_ENST00000449376.1_Silent_p.S153S	NM_006321.2	NP_006312.1	O95376	ARI2_HUMAN	ariadne RBR E3 ubiquitin protein ligase 2	153					developmental cell growth|hemopoietic stem cell proliferation|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	13				BRCA - Breast invasive adenocarcinoma(193;9.42e-05)|Kidney(197;0.00258)|KIRC - Kidney renal clear cell carcinoma(197;0.00269)		ACCTACTCTCTCTGGCCTGTC	0.557													13	115					0	0	1	0	0	C	49004629	T	C	49004629	2	2	81	1	0	0	0	0	0	0	0	1	921	1538	54	3		3	ARIH2	3	49004629	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	108597	49004629	149017801	2950	6566											
P4HTM	54681	broad.mit.edu	37	3	49043537	49043537	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:49043537G>A	ENST00000343546.4	+	8	1756	c.1388G>A	c.(1387-1389)aGg>aAg	p.R463K	P4HTM_ENST00000383729.4_Missense_Mutation_p.R402K	NM_177938.2	NP_808807.2	Q9NXG6	P4HTM_HUMAN	prolyl 4-hydroxylase, transmembrane (endoplasmic reticulum)	402						endoplasmic reticulum membrane|integral to membrane	calcium ion binding|iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21					Vitamin C(DB00126)	GACACACGGAGGCACTGTGAC	0.597													42	65					0	0	1	0	0	A	49043537	G	A	49043537	3	1	81	1	0	0	0	0	1	0	0	0	11407	1000	35	2	1418	2	P4HTM	3	49043537	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	38908	49043537	148978893	2951	6567											
P4HTM	54681	broad.mit.edu	37	3	49044189	49044189	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:49044189T>A	ENST00000343546.4	+	9	1909	c.1541T>A	c.(1540-1542)aTt>aAt	p.I514N	P4HTM_ENST00000383729.4_Missense_Mutation_p.I453N	NM_177938.2	NP_808807.2	Q9NXG6	P4HTM_HUMAN	prolyl 4-hydroxylase, transmembrane (endoplasmic reticulum)	453						endoplasmic reticulum membrane|integral to membrane	calcium ion binding|iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21					Vitamin C(DB00126)	ACCAAGTGGATTGCCAACAAC	0.627													12	16					0	0	1	0	0	A	49044189	T	A	49044189	3	1	81	1	0	0	0	0	1	0	0	0	11407	1493	52	4	1575	4	P4HTM	3	49044189	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	652	49044189	148978241	2952	6568											
WDR6	11180	broad.mit.edu	37	3	49049221	49049221	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:49049221C>A	ENST00000395474.3	+	2	624	c.344C>A	c.(343-345)gCt>gAt	p.A115D	WDR6_ENST00000415265.2_Intron|WDR6_ENST00000448293.1_Missense_Mutation_p.A34D|WDR6_ENST00000608424.1_Missense_Mutation_p.A85D|WDR6_ENST00000489684.1_Intron	NM_018031.3	NP_060501.3	Q9NNW5	WDR6_HUMAN	WD repeat domain 6	85					cell cycle arrest|negative regulation of cell proliferation	cytoplasm				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26				Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155)		GCCATGGTGGCTGTGTTTGGA	0.547													19	169					5.49717e-05	6.0878e-05	1	1	0	A	49049221	C	A	49049221	3	1	81	1	0	0	0	0	1	0	0	0	17370	797	28	4	350	4	WDR6	3	49049221	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	5032	49049221	148973209	2953	6569											
WDR6	11180	broad.mit.edu	37	3	49050759	49050759	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:49050759G>A	ENST00000395474.3	+	2	2162	c.1882G>A	c.(1882-1884)Gac>Aac	p.D628N	WDR6_ENST00000415265.2_Missense_Mutation_p.D46N|WDR6_ENST00000448293.1_Missense_Mutation_p.D547N|WDR6_ENST00000608424.1_Missense_Mutation_p.D598N|WDR6_ENST00000489684.1_3'UTR	NM_018031.3	NP_060501.3	Q9NNW5	WDR6_HUMAN	WD repeat domain 6	598					cell cycle arrest|negative regulation of cell proliferation	cytoplasm				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26				Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155)		GTTTGTACGAGACGGCCAGCT	0.577													9	16					0	0	1	0	0	A	49050759	G	A	49050759	3	1	81	1	0	0	0	0	1	0	0	0	17370	942	33	2	1888	2	WDR6	3	49050759	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1538	49050759	148971671	2954	6570											
DALRD3	55152	broad.mit.edu	37	3	49054273	49054273	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:49054273A>G	ENST00000440857.1	-	7	1136	c.434T>C	c.(433-435)cTc>cCc	p.L145P	DALRD3_ENST00000441576.2_Missense_Mutation_p.L312P|DALRD3_ENST00000341949.4_Missense_Mutation_p.L312P|DALRD3_ENST00000313778.5_Missense_Mutation_p.L145P|DALRD3_ENST00000395462.4_Missense_Mutation_p.L145P			Q5D0E6	DALD3_HUMAN	DALR anticodon binding domain containing 3	312					arginyl-tRNA aminoacylation	cytoplasm	arginine-tRNA ligase activity|ATP binding			breast(2)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		GCCACAGATGAGGTGCTTCTG	0.567													5	51					0	0	1	0	0	G	49054273	A	G	49054273	3	3	81	1	0	0	0	0	1	0	0	0	4253	304	11	3	724	3	DALRD3	3	49054273	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	3514	49054273	148968157	2955	6571											
NDUFAF3	25915	broad.mit.edu	37	3	49059860	49059860	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:49059860G>A	ENST00000326925.6	+	2	1293	c.159G>A	c.(157-159)gaG>gaA	p.E53E	NDUFAF3_ENST00000451378.2_5'UTR|NDUFAF3_ENST00000326912.4_5'UTR|NDUFAF3_ENST00000395458.2_5'UTR	NM_199069.1	NP_951032.1	Q9BU61	NDUF3_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 3	53					mitochondrial respiratory chain complex I assembly	mitochondrial inner membrane|nucleus	protein binding			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)	8						TGCAACGCGAGGCCGCTCAGG	0.662													9	21					0	0	1	0	0	A	49059860	G	A	49059860	2	1	81	1	0	0	0	0	0	0	0	1	10323	991	35	2		2	NDUFAF3	3	49059860	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	5587	49059860	148962570	2956	6572											
QARS	5859	broad.mit.edu	37	3	49141388	49141388	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:49141388G>A	ENST00000306125.6	-	3	620	c.283C>T	c.(283-285)Cgg>Tgg	p.R95W	QARS_ENST00000414533.1_Missense_Mutation_p.R84W|QARS_ENST00000420147.2_Missense_Mutation_p.R113W			P47897	SYQ_HUMAN	glutaminyl-tRNA synthetase	95					glutaminyl-tRNA aminoacylation	cytosol|mitochondrial matrix	ATP binding|glutamine-tRNA ligase activity|protein binding			breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	L-Glutamine(DB00130)	GGGTGACTCCGCACATACTCA	0.547													10	16					0	0	1	0	0	A	49141388	G	A	49141388	3	1	81	1	0	0	0	0	1	0	0	0	12923	1086	38	1	2132	1	QARS	3	49141388	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	81528	49141388	148881042	2957	6573											
USP19	10869	broad.mit.edu	37	3	49153548	49153548	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:49153548C>T	ENST00000453664.1	-	10	1691	c.1373G>A	c.(1372-1374)cGc>cAc	p.R458H	USP19_ENST00000398898.2_Missense_Mutation_p.R405H|USP19_ENST00000398888.2_Missense_Mutation_p.R367H|USP19_ENST00000398896.1_Missense_Mutation_p.R173H|USP19_ENST00000434032.2_Missense_Mutation_p.R468H|USP19_ENST00000417901.1_Missense_Mutation_p.R468H|USP19_ENST00000398892.3_Missense_Mutation_p.R405H	NM_001199161.1|NM_001199162.1	NP_001186090.1|NP_001186091.1	O94966	UBP19_HUMAN	ubiquitin specific peptidase 19	367					ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy	endoplasmic reticulum membrane|integral to membrane	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GATGTCGATGCGAGAAGCCGT	0.572													18	18					0	0	1	0	0	T	49153548	C	T	49153548	3	4	81	1	0	0	0	0	1	0	0	0	17110	768	27	1	2928	1	USP19	3	49153548	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	12160	49153548	148868882	2958	6574											
USP19	10869	broad.mit.edu	37	3	49154763	49154763	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:49154763G>A	ENST00000453664.1	-	6	926	c.608C>T	c.(607-609)cCg>cTg	p.P203L	USP19_ENST00000398898.2_Missense_Mutation_p.P150L|USP19_ENST00000398888.2_Intron|USP19_ENST00000398896.1_Intron|USP19_ENST00000434032.2_Missense_Mutation_p.P213L|USP19_ENST00000488993.1_5'UTR|USP19_ENST00000417901.1_Missense_Mutation_p.P213L|USP19_ENST00000398892.3_Missense_Mutation_p.P150L	NM_001199161.1|NM_001199162.1	NP_001186090.1|NP_001186091.1	O94966	UBP19_HUMAN	ubiquitin specific peptidase 19	212					ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy	endoplasmic reticulum membrane|integral to membrane	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CCGCAGCCCCGGCACCAGCTC	0.612													10	8					0	0	1	0	0	A	49154763	G	A	49154763	3	1	81	1	0	0	0	0	1	0	0	0	17110	1131	39	1		1	USP19	3	49154763	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1215	49154763	148867667	2959	6575											
USP19	10869	broad.mit.edu	37	3	49155466	49155466	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:49155466A>G	ENST00000453664.1	-	3	530	c.212T>C	c.(211-213)aTc>aCc	p.I71T	USP19_ENST00000398898.2_Intron|USP19_ENST00000398888.2_Missense_Mutation_p.I71T|USP19_ENST00000434032.2_Missense_Mutation_p.I71T|USP19_ENST00000488993.1_5'UTR|USP19_ENST00000417901.1_Missense_Mutation_p.I71T|USP19_ENST00000398892.3_Intron	NM_001199161.1|NM_001199162.1	NP_001186090.1|NP_001186091.1	O94966	UBP19_HUMAN	ubiquitin specific peptidase 19	71					ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy	endoplasmic reticulum membrane|integral to membrane	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		tgagcctgtgatcccagctgc	0.537													10	25					0	0	1	0	0	G	49155466	A	G	49155466	3	3	81	1	0	0	0	0	1	0	0	0	17110	333	12	3	3840	3	USP19	3	49155466	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	703	49155466	148866964	2960	6576											
LAMB2	3913	broad.mit.edu	37	3	49159017	49159017	+	Silent	SNP	G	G	A	rs151292828	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:49159017G>A	ENST00000418109.1	-	32	5273	c.5109C>T	c.(5107-5109)cgC>cgT	p.R1703R	LAMB2_ENST00000305544.4_Silent_p.R1703R	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN	laminin, beta 2 (laminin S)	1703	Domain I.				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity			NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CCAGAGGACCGCGTAGCAGCT	0.607													4	30					0	0	1	0	0	A	49159017	G	A	49159017	2	1	81	1	0	0	0	0	0	0	0	1	8650	1074	38	1		1	LAMB2	3	49159017	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	3551	49159017	148863413	2961	6577											
LAMB2	3913	broad.mit.edu	37	3	49169107	49169107	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:49169107C>T	ENST00000418109.1	-	6	673	c.509G>A	c.(508-510)cGc>cAc	p.R170H	LAMB2_ENST00000305544.4_Missense_Mutation_p.R170H	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN	laminin, beta 2 (laminin S)	170	Laminin N-terminal.				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity			NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		ATGCCAGGTGCGGCCAAAGTC	0.592													29	48					0	0	1	0	0	T	49169107	C	T	49169107	3	4	81	1	0	0	0	0	1	0	0	0	8650	768	27	1	4999	1	LAMB2	3	49169107	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	10090	49169107	148853323	2962	6578											
KLHDC8B	200942	broad.mit.edu	37	3	49210220	49210220	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:49210220C>T	ENST00000332780.2	+	2	227	c.18C>T	c.(16-18)ggC>ggT	p.G6G	KLHDC8B_ENST00000476495.2_3'UTR	NM_173546.2	NP_775817.1	Q8IXV7	KLD8B_HUMAN	kelch domain containing 8B	6						cytoplasm				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|skin(1)|stomach(1)	7				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		CAGGAGGTGGCCGGGCCTTTG	0.612													11	14					0	0	1	0	0	T	49210220	C	T	49210220	2	4	81	1	0	0	0	0	0	0	0	1	8406	726	26	2		2	KLHDC8B	3	49210220	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	41113	49210220	148812210	2963	6579											
USP4	7375	broad.mit.edu	37	3	49365228	49365228	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:49365228T>G	ENST00000351842.4	-	3	259	c.251A>C	c.(250-252)aAa>aCa	p.K84T	USP4_ENST00000416417.1_Missense_Mutation_p.K84T|USP4_ENST00000265560.4_Missense_Mutation_p.K84T|USP4_ENST00000415188.1_Missense_Mutation_p.K84T	NM_199443.2	NP_955475.1	Q13107	UBP4_HUMAN	ubiquitin specific peptidase 4 (proto-oncogene)	84	DUSP.				negative regulation of protein ubiquitination|protein deubiquitination|protein localization at cell surface|regulation of protein stability|ubiquitin-dependent protein catabolic process	lysosome|nucleus	adenosine receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121)		OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05)		TAAGTGTTCTTTCAAGGTCTG	0.413													12	60					0	0	1	0	0	G	49365228	T	G	49365228	3	3	81	1	0	0	0	0	1	0	0	0	17131	1841	64	5	2720	5	USP4	3	49365228	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	155008	49365228	148657202	2964	6580											
RHOA	387	broad.mit.edu	37	3	49399938	49399938	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:49399938C>T	ENST00000418115.1	-	4	783	c.399G>A	c.(397-399)aaG>aaA	p.K133K	RHOA_ENST00000422781.1_Silent_p.K133K|RHOA_ENST00000454011.2_3'UTR	NM_001664.2	NP_001655.1	P61586	RHOA_HUMAN	ras homolog family member A	133					axon guidance|interspecies interaction between organisms|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of axonogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of neuron differentiation|positive regulation of NF-kappaB import into nucleus|positive regulation of stress fiber assembly|regulation of cell migration|regulation of small GTPase mediated signal transduction|Rho protein signal transduction|spindle assembly involved in mitosis	cytoskeleton|cytosol|plasma membrane	GTP binding|GTPase activity|myosin binding			cervix(1)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.58e-05)|Kidney(197;0.0023)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)	Atorvastatin(DB01076)|Simvastatin(DB00641)	CCTGCTTCATCTTGGCTAGCT	0.532													31	60					0	0	1	0	0	T	49399938	C	T	49399938	2	4	81	1	0	0	0	0	0	0	0	1	13381	912	32	2		2	RHOA	3	49399938	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	34710	49399938	148622492	2965	6581											
NICN1	84276	broad.mit.edu	37	3	49462403	49462403	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:49462403G>A	ENST00000273598.3	-	5	665	c.579C>T	c.(577-579)tcC>tcT	p.S193S	NICN1_ENST00000422593.1_5'UTR|NICN1_ENST00000436744.2_Silent_p.S155S	NM_032316.3	NP_115692.1	Q9BSH3	NICN1_HUMAN	nicolin 1	193						microtubule|nucleus				kidney(1)|large_intestine(3)|lung(1)	5				BRCA - Breast invasive adenocarcinoma(193;4.52e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		CGATCCTTGCGGAGGTGTGAC	0.562													8	23					0	0	1	0	0	A	49462403	G	A	49462403	2	1	81	1	0	0	0	0	0	0	0	1	10460	1103	39	1		1	NICN1	3	49462403	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	62465	49462403	148560027	2966	6582											
BSN	8927	broad.mit.edu	37	3	49689793	49689793	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:49689793A>C	ENST00000296452.4	+	5	2918	c.2804A>C	c.(2803-2805)gAg>gCg	p.E935A		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	935					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		AAGACCATTGAGCTCAACAGC	0.622													16	35					0	0	1	0	0	C	49689793	A	C	49689793	3	2	81	1	0	0	0	0	1	0	0	0	1532	304	11	5	2822	5	BSN	3	49689793	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	227390	49689793	148332637	2967	6583	24	2									
BSN	8927	broad.mit.edu	37	3	49689802	49689802	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:49689802G>A	ENST00000296452.4	+	5	2927	c.2813G>A	c.(2812-2814)aGc>aAc	p.S938N		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	938					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		GAGCTCAACAGCACGGGAAGT	0.622													26	32					0	0	1	0	0	A	49689802	G	A	49689802	3	1	81	1	0	0	0	0	1	0	0	0	1532	971	34	2	2831	2	BSN	3	49689802	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	9	49689802	148332628	2968	6584	24	2									
BSN	8927	broad.mit.edu	37	3	49693336	49693336	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:49693336G>A	ENST00000296452.4	+	5	6461	c.6347G>A	c.(6346-6348)gGc>gAc	p.G2116D		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	2116					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		GGGCGGCATGGCAGTGGTGGT	0.642													11	42					0	0	1	0	0	A	49693336	G	A	49693336	3	1	81	1	0	0	0	0	1	0	0	0	1532	1203	42	2	6365	2	BSN	3	49693336	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	3534	49693336	148329094	2969	6585											
BSN	8927	broad.mit.edu	37	3	49694644	49694644	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:49694644G>A	ENST00000296452.4	+	5	7769	c.7655G>A	c.(7654-7656)gGc>gAc	p.G2552D		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	2552					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		AGCCGTAGTGGCATCAAGAAG	0.637													12	25					0	0	1	0	0	A	49694644	G	A	49694644	3	1	81	1	0	0	0	0	1	0	0	0	1532	1203	42	2	7673	2	BSN	3	49694644	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1308	49694644	148327786	2970	6586											
BSN	8927	broad.mit.edu	37	3	49694787	49694787	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:49694787C>T	ENST00000296452.4	+	5	7912	c.7798C>T	c.(7798-7800)Cgg>Tgg	p.R2600W		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	2600	Poly-Arg.				synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		CCTCTTGAGTCGGCGACGCCG	0.642													19	14					0	0	1	0	0	T	49694787	C	T	49694787	3	4	81	1	0	0	0	0	1	0	0	0	1532	875	31	1	7816	1	BSN	3	49694787	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	143	49694787	148327643	2971	6587											
BSN	8927	broad.mit.edu	37	3	49695448	49695448	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:49695448C>A	ENST00000296452.4	+	5	8573	c.8459C>A	c.(8458-8460)gCt>gAt	p.A2820D		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	2820					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		CTGAACAAAGCTCACGTGAGT	0.627													30	41					7.01153e-11	8.62519e-11	1	1	0	A	49695448	C	A	49695448	3	1	81	1	0	0	0	0	1	0	0	0	1532	797	28	4	8477	4	BSN	3	49695448	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	661	49695448	148326982	2972	6588											
BSN	8927	broad.mit.edu	37	3	49699822	49699822	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:49699822G>A	ENST00000296452.4	+	6	10658	c.10544G>A	c.(10543-10545)cGc>cAc	p.R3515H		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	3515					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		GGGAGGCCCCGCCCTGCCGGA	0.662													10	17					0	0	1	0	0	A	49699822	G	A	49699822	3	1	81	1	0	0	0	0	1	0	0	0	1532	1087	38	1	10566	1	BSN	3	49699822	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	4374	49699822	148322608	2973	6589											
APEH	327	broad.mit.edu	37	3	49720671	49720671	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:49720671C>A	ENST00000296456.5	+	22	2495	c.2095C>A	c.(2095-2097)Ctc>Atc	p.L699I	APEH_ENST00000438011.1_Splice_Site_p.L704I	NM_001640.3	NP_001631.3	P13798	ACPH_HUMAN	acylaminoacyl-peptide hydrolase	699					proteolysis	cytoplasm|nuclear membrane	serine-type endopeptidase activity	p.L699F(1)		endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		TCCCTACAGGCTCCTGCTCTA	0.562													16	139					1.3612e-06	1.56842e-06	1	1	0	A	49720671	C	A	49720671	5	1	81	1	0	0	0	0	0	0	1	0	764	811	28	4	2181	4	APEH	3	49720671	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	20849	49720671	148301759	2974	6590											
MST1	4485	broad.mit.edu	37	3	49721811	49721811	+	Missense_Mutation	SNP	C	C	T	rs138155786		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:49721811C>T	ENST00000449682.2	-	17	2313	c.1952G>A	c.(1951-1953)cGa>cAa	p.R651Q		NM_020998.3	NP_066278.3	P26927	HGFL_HUMAN	macrophage stimulating 1 (hepatocyte growth factor-like)	637	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2)	41				BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		CACACGTCCTCGGTGCTTGAT	0.597													4	56					0	0	1	0	0	T	49721811	C	T	49721811	3	4	81	1	0	0	0	0	1	0	0	0	9938	884	31	1	233	1	MST1	3	49721811	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1140	49721811	148300619	2975	6591											
MST1	4485	broad.mit.edu	37	3	49725255	49725255	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:49725255G>A	ENST00000449682.2	-	2	531	c.170C>T	c.(169-171)cCc>cTc	p.P57L	MST1_ENST00000494828.2_Intron|MST1_ENST00000383728.3_Intron|MST1_ENST00000545762.1_Missense_Mutation_p.P43L	NM_020998.3	NP_066278.3	P26927	HGFL_HUMAN	macrophage stimulating 1 (hepatocyte growth factor-like)	43	PAN.				proteolysis	extracellular region	serine-type endopeptidase activity			NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2)	41				BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		CCAAGGCCCGGGCACCACCGC	0.612													12	16					0	0	1	0	0	A	49725255	G	A	49725255	3	1	81	1	0	0	0	0	1	0	0	0	9938	1232	43	2	2075	2	MST1	3	49725255	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	3444	49725255	148297175	2976	6592											
RNF123	63891	broad.mit.edu	37	3	49751542	49751542	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:49751542G>A	ENST00000327697.6	+	31	3089	c.2945G>A	c.(2944-2946)cGc>cAc	p.R982H	RNF123_ENST00000433785.1_Missense_Mutation_p.R94H	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN	ring finger protein 123	982						cytoplasm	ligase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		TTCGGGTACCGCTATACACGG	0.617													28	33					0	0	1	0	0	A	49751542	G	A	49751542	3	1	81	1	0	0	0	0	1	0	0	0	13485	1087	38	1	3063	1	RNF123	3	49751542	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	26287	49751542	148270888	2977	6593											
AMIGO3	386724	broad.mit.edu	37	3	49755598	49755598	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:49755598G>A	ENST00000535833.1	-	10	4751	c.1301C>T	c.(1300-1302)tCa>tTa	p.S434L	RNF123_ENST00000327697.6_Intron|RNF123_ENST00000497099.1_3'UTR|RNF123_ENST00000433785.1_Intron|AMIGO3_ENST00000320431.7_Missense_Mutation_p.S434L|GMPPB_ENST00000480687.1_3'UTR			Q86WK7	AMGO3_HUMAN	adhesion molecule with Ig-like domain 3	434					heterophilic cell-cell adhesion	integral to membrane				endometrium(1)|pancreas(1)|prostate(2)|urinary_tract(1)	5				BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		GCTGAGTACTGAGGACTGTGC	0.692													6	88					0	0	1	0	0	A	49755598	G	A	49755598	3	1	81	1	0	0	0	0	1	0	0	0	573	1294	45	2	217	2	AMIGO3	3	49755598	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	4056	49755598	148266832	2978	6594											
GMPPB	29925	broad.mit.edu	37	3	49760894	49760894	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:49760894G>A	ENST00000480687.1	-	3	257	c.141C>T	c.(139-141)gaC>gaT	p.D47D	GMPPB_ENST00000308375.6_Silent_p.D47D|GMPPB_ENST00000308388.6_Silent_p.D47D|AMIGO3_ENST00000535833.1_5'UTR			Q9Y5P6	GMPPB_HUMAN	GDP-mannose pyrophosphorylase B	47					dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine		GTP binding|mannose-1-phosphate guanylyltransferase activity			endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		GGATCACGTGGTCCACGCCTG	0.627													13	28					0	0	1	0	0	A	49760894	G	A	49760894	2	1	81	1	0	0	0	0	0	0	0	1	6537	1252	44	2		2	GMPPB	3	49760894	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	5296	49760894	148261536	2979	6595											
IP6K1	9807	broad.mit.edu	37	3	49785313	49785313	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:49785313C>T	ENST00000321599.4	-	2	462	c.161G>A	c.(160-162)cGg>cAg	p.R54Q	IP6K1_ENST00000460540.1_Intron|IP6K1_ENST00000468463.1_Missense_Mutation_p.R54Q|IP6K1_ENST00000395238.1_Intron	NM_001242829.1|NM_153273.3	NP_001229758.1|NP_695005.1	Q92551	IP6K1_HUMAN	inositol hexakisphosphate kinase 1	54					phosphatidylinositol phosphorylation	cytoplasm|nucleus	ATP binding|inositol hexakisphosphate 5-kinase activity|inositol trisphosphate 3-kinase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(2)|skin(2)	15						GCGCTGTTCCCGGGAGATGAG	0.557													9	42					0	0	1	0	0	T	49785313	C	T	49785313	3	4	81	1	0	0	0	0	1	0	0	0	7832	652	23	1	1184	1	IP6K1	3	49785313	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	24419	49785313	148237117	2980	6596											
UBA7	7318	broad.mit.edu	37	3	49847552	49847552	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:49847552G>A	ENST00000333486.3	-	14	1856	c.1698C>T	c.(1696-1698)ggC>ggT	p.G566G		NM_003335.2	NP_003326.2	P41226	UBA7_HUMAN	ubiquitin-like modifier activating enzyme 7	566	2 approximate repeats.				ISG15-protein conjugation|negative regulation of type I interferon production	cytosol	ATP binding|ISG15 activating enzyme activity|ligase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(15)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;3.58e-06)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		TGCCCCAGGTGCCCGATGTGC	0.607													8	32					0	0	1	0	0	A	49847552	G	A	49847552	2	1	81	1	0	0	0	0	0	0	0	1	16894	1306	46	2		2	UBA7	3	49847552	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	62239	49847552	148174878	2981	6597											
UBA7	7318	broad.mit.edu	37	3	49847823	49847823	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:49847823G>A	ENST00000333486.3	-	13	1664	c.1506C>T	c.(1504-1506)ggC>ggT	p.G502G		NM_003335.2	NP_003326.2	P41226	UBA7_HUMAN	ubiquitin-like modifier activating enzyme 7	502	2 approximate repeats.				ISG15-protein conjugation|negative regulation of type I interferon production	cytosol	ATP binding|ISG15 activating enzyme activity|ligase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(15)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;3.58e-06)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		CTGGGTTCAGGCCCCGGGCAG	0.587													28	66					0	0	1	0	0	A	49847823	G	A	49847823	2	1	81	1	0	0	0	0	0	0	0	1	16894	1190	42	2		2	UBA7	3	49847823	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	271	49847823	148174607	2982	6598											
UBA7	7318	broad.mit.edu	37	3	49848098	49848098	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:49848098G>A	ENST00000333486.3	-	12	1477	c.1319C>T	c.(1318-1320)gCt>gTt	p.A440V		NM_003335.2	NP_003326.2	P41226	UBA7_HUMAN	ubiquitin-like modifier activating enzyme 7	440	2 approximate repeats.				ISG15-protein conjugation|negative regulation of type I interferon production	cytosol	ATP binding|ISG15 activating enzyme activity|ligase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(15)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;3.58e-06)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		AATGGCACCAGCGCCCACCTG	0.612													51	105					0	0	1	0	0	A	49848098	G	A	49848098	3	1	81	1	0	0	0	0	1	0	0	0	16894	971	34	2	1771	2	UBA7	3	49848098	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	275	49848098	148174332	2983	6599											
UBA7	7318	broad.mit.edu	37	3	49849917	49849917	+	Silent	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:49849917T>A	ENST00000333486.3	-	6	776	c.618A>T	c.(616-618)ggA>ggT	p.G206G	UBA7_ENST00000494212.1_5'UTR	NM_003335.2	NP_003326.2	P41226	UBA7_HUMAN	ubiquitin-like modifier activating enzyme 7	206	2 approximate repeats.				ISG15-protein conjugation|negative regulation of type I interferon production	cytosol	ATP binding|ISG15 activating enzyme activity|ligase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(15)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;3.58e-06)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		TCACCAAGTCTCCATCACGGA	0.567													5	50					0	0	1	0	0	A	49849917	T	A	49849917	2	1	81	1	0	0	0	0	0	0	0	1	16894	1538	54	5		5	UBA7	3	49849917	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	1819	49849917	148172513	2984	6600	25	2									
UBA7	7318	broad.mit.edu	37	3	49849918	49849918	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:49849918C>A	ENST00000333486.3	-	6	775	c.617G>T	c.(616-618)gGa>gTa	p.G206V	UBA7_ENST00000494212.1_5'UTR	NM_003335.2	NP_003326.2	P41226	UBA7_HUMAN	ubiquitin-like modifier activating enzyme 7	206	2 approximate repeats.				ISG15-protein conjugation|negative regulation of type I interferon production	cytosol	ATP binding|ISG15 activating enzyme activity|ligase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(15)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;3.58e-06)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		CACCAAGTCTCCATCACGGAA	0.567													4	52					0.000602214	0.000646338	1	1	0	A	49849918	C	A	49849918	3	1	81	1	0	0	0	0	1	0	0	0	16894	855	30	5	2497	5	UBA7	3	49849918	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1	49849918	148172512	2985	6601	25	2									
UBA7	7318	broad.mit.edu	37	3	49850778	49850778	+	Silent	SNP	G	G	A	rs144077688	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:49850778G>A	ENST00000333486.3	-	3	422	c.264C>T	c.(262-264)gcC>gcT	p.A88A	UBA7_ENST00000494212.1_5'UTR	NM_003335.2	NP_003326.2	P41226	UBA7_HUMAN	ubiquitin-like modifier activating enzyme 7	88	2 approximate repeats.				ISG15-protein conjugation|negative regulation of type I interferon production	cytosol	ATP binding|ISG15 activating enzyme activity|ligase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(15)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;3.58e-06)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		GAGAGGCCTCGGCTCTGCTCC	0.587													4	46					0	0	1	0	0	A	49850778	G	A	49850778	2	1	81	1	0	0	0	0	0	0	0	1	16894	1103	39	1		1	UBA7	3	49850778	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	860	49850778	148171652	2986	6602											
TRAIP	10293	broad.mit.edu	37	3	49869458	49869458	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:49869458A>G	ENST00000331456.2	-	11	1041	c.928T>C	c.(928-930)Ttc>Ctc	p.F310L	TRAIP_ENST00000469027.1_Missense_Mutation_p.F155L	NM_005879.2	NP_005870.2	Q9BWF2	TRAIP_HUMAN	TRAF interacting protein	310	Interaction with CYLD.				cell proliferation|induction of apoptosis	perinuclear region of cytoplasm	protein binding|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TCATCACGGAAGGATGGCCGG	0.552													7	63					0	0	1	0	0	G	49869458	A	G	49869458	3	3	81	1	0	0	0	0	1	0	0	0	16509	72	3	3	501	3	TRAIP	3	49869458	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	18680	49869458	148152972	2987	6603											
TRAIP	10293	broad.mit.edu	37	3	49879910	49879910	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:49879910C>A	ENST00000331456.2	-	6	592	c.479G>T	c.(478-480)aGg>aTg	p.R160M	TRAIP_ENST00000469027.1_Intron	NM_005879.2	NP_005870.2	Q9BWF2	TRAIP_HUMAN	TRAF interacting protein	160					cell proliferation|induction of apoptosis	perinuclear region of cytoplasm	protein binding|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CATCTTGCTCCTGAGCCGGCG	0.547													5	70					3.59834e-05	3.99423e-05	1	1	0	A	49879910	C	A	49879910	3	1	81	1	0	0	0	0	1	0	0	0	16509	681	24	4	970	4	TRAIP	3	49879910	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	10452	49879910	148142520	2988	6604											
CAMKV	79012	broad.mit.edu	37	3	49896835	49896835	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:49896835G>A	ENST00000463537.1	-	11	1404	c.1217C>T	c.(1216-1218)gCg>gTg	p.A406V	CAMKV_ENST00000466940.1_Silent_p.G400G|CAMKV_ENST00000488336.1_Silent_p.G443G|CAMKV_ENST00000467248.1_Silent_p.G399G|CAMKV_ENST00000296471.7_Silent_p.G446G|CAMKV_ENST00000477224.1_Silent_p.G474G	NM_024046.3	NP_076951.2	Q8NCB2	CAMKV_HUMAN	CaM kinase-like vesicle-associated	0	Ala-rich.					cytoplasmic vesicle membrane|plasma membrane	ATP binding|protein serine/threonine kinase activity			central_nervous_system(1)|large_intestine(2)|lung(2)|ovary(2)	7				BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		GGCCTGTGGCGCCCTCTGGGG	0.652													22	47					0	0	1	0	0	A	49896835	G	A	49896835	3	1	81	1	0	0	0	0	1	0	0	0	2626	1074	38	1	87	1	CAMKV	3	49896835	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	16925	49896835	148125595	2989	6605											
CAMKV	79012	broad.mit.edu	37	3	49898709	49898709	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:49898709G>A	ENST00000477224.1	-	6	944	c.466C>T	c.(466-468)Cgg>Tgg	p.R156W	CAMKV_ENST00000466940.1_Missense_Mutation_p.R113W|CAMKV_ENST00000488336.1_Missense_Mutation_p.R156W|CAMKV_ENST00000467248.1_Missense_Mutation_p.R81W|CAMKV_ENST00000296471.7_Missense_Mutation_p.R156W|CAMKV_ENST00000463537.1_Missense_Mutation_p.R156W			Q8NCB2	CAMKV_HUMAN	CaM kinase-like vesicle-associated	156	Protein kinase.					cytoplasmic vesicle membrane|plasma membrane	ATP binding|protein serine/threonine kinase activity			central_nervous_system(1)|large_intestine(2)|lung(2)|ovary(2)	7				BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		TTCTTCAGCCGGTTGTAGTAA	0.527													10	29					0	0	1	0	0	A	49898709	G	A	49898709	3	1	81	1	0	0	0	0	1	0	0	0	2626	1115	39	1	1063	1	CAMKV	3	49898709	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1874	49898709	148123721	2990	6606											
MST1R	4486	broad.mit.edu	37	3	49932714	49932714	+	Missense_Mutation	SNP	G	G	A	rs144584611		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:49932714G>A	ENST00000296474.3	-	14	3184	c.3157C>T	c.(3157-3159)Cgg>Tgg	p.R1053W	MST1R_ENST00000344206.4_Missense_Mutation_p.R1004W	NM_002447.2	NP_002438	Q04912	RON_HUMAN	macrophage stimulating 1 receptor (c-met-related tyrosine kinase)	1053					cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|macrophage colony-stimulating factor receptor activity|protein binding			cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		GACTCTTTCCGCAGCAGTGGC	0.567													7	143					0	0	1	0	0	A	49932714	G	A	49932714	3	1	81	1	0	0	0	0	1	0	0	0	9939	1086	38	1	1073	1	MST1R	3	49932714	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	34005	49932714	148089716	2991	6607											
MST1R	4486	broad.mit.edu	37	3	49935547	49935547	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:49935547G>A	ENST00000296474.3	-	5	1844	c.1817C>T	c.(1816-1818)aCc>aTc	p.T606I	MST1R_ENST00000344206.4_Missense_Mutation_p.T606I	NM_002447.2	NP_002438	Q04912	RON_HUMAN	macrophage stimulating 1 receptor (c-met-related tyrosine kinase)	606	IPT/TIG 1.				cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|macrophage colony-stimulating factor receptor activity|protein binding			cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		GACCTGATGGGTTCCCTCAGG	0.592													26	44					0	0	1	0	0	A	49935547	G	A	49935547	3	1	81	1	0	0	0	0	1	0	0	0	9939	1261	44	2	2449	2	MST1R	3	49935547	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2833	49935547	148086883	2992	6608											
MST1R	4486	broad.mit.edu	37	3	49940860	49940860	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:49940860G>A	ENST00000296474.3	-	1	210	c.183C>T	c.(181-183)taC>taT	p.Y61Y	MST1R_ENST00000344206.4_Silent_p.Y61Y|CTD-2330K9.2_ENST00000435478.1_RNA	NM_002447.2	NP_002438	Q04912	RON_HUMAN	macrophage stimulating 1 receptor (c-met-related tyrosine kinase)	61	Sema.				cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|macrophage colony-stimulating factor receptor activity|protein binding			cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		TGTCGCCCTCGTAGGTCACCA	0.627													11	70					0	0	1	0	0	A	49940860	G	A	49940860	2	1	81	1	0	0	0	0	0	0	0	1	9939	1140	40	1		1	MST1R	3	49940860	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	5313	49940860	148081570	2993	6609											
RBM6	10180	broad.mit.edu	37	3	50005101	50005101	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:50005101G>A	ENST00000266022.4	+	3	502	c.243G>A	c.(241-243)ccG>ccA	p.P81P	RBM6_ENST00000441115.1_Intron|RBM6_ENST00000539992.1_Intron|RBM6_ENST00000443081.1_5'UTR|RBM6_ENST00000442092.1_Intron|RBM6_ENST00000422955.1_Intron	NM_005777.2	NP_005768.1	P78332	RBM6_HUMAN	RNA binding motif protein 6	81					RNA processing	nucleus	DNA binding|nucleotide binding|RNA binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(4)|urinary_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)		GAGACGGACCGCATGGTGACT	0.507													56	65					0	0	1	0	0	A	50005101	G	A	50005101	2	1	81	1	0	0	0	0	0	0	0	1	13196	1074	38	1		1	RBM6	3	50005101	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	64241	50005101	148017329	2994	6610											
RBM6	10180	broad.mit.edu	37	3	50005258	50005258	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:50005258G>T	ENST00000443081.1	+	3	923	c.4G>T	c.(4-6)Gac>Tac	p.D2Y	RBM6_ENST00000441115.1_Intron|RBM6_ENST00000539992.1_Intron|RBM6_ENST00000442092.1_Intron|RBM6_ENST00000422955.1_Intron|RBM6_ENST00000266022.4_Missense_Mutation_p.D134Y			P78332	RBM6_HUMAN	RNA binding motif protein 6	134					RNA processing	nucleus	DNA binding|nucleotide binding|RNA binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(4)|urinary_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)		ACCACCTATGGACTATAGGGG	0.478													46	84					1.23103e-26	1.63236e-26	1	1	0	T	50005258	G	T	50005258	3	4	81	1	0	0	0	0	1	0	0	0	13196	1174	41	5	406	5	RBM6	3	50005258	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	157	50005258	148017172	2995	6611											
SEMA3F	6405	broad.mit.edu	37	3	50220121	50220121	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:50220121C>T	ENST00000002829.3	+	9	1292	c.808C>T	c.(808-810)Cgc>Tgc	p.R270C	SEMA3F_ENST00000434342.1_Missense_Mutation_p.R239C|SEMA3F_ENST00000413852.1_Missense_Mutation_p.R171C	NM_004186.3	NP_004177.3	Q13275	SEM3F_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F	270	Sema.			Missing (in Ref. 2; AAB18276).	axon guidance	extracellular space|membrane	chemorepellent activity|receptor activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2)	17				BRCA - Breast invasive adenocarcinoma(193;0.00013)|KIRC - Kidney renal clear cell carcinoma(197;0.00599)|Kidney(197;0.00688)		CAGTGCGGAGCGCAATGATGA	0.612													28	38					0	0	1	0	0	T	50220121	C	T	50220121	3	4	81	1	0	0	0	0	1	0	0	0	14083	768	27	1	838	1	SEMA3F	3	50220121	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	214863	50220121	147802309	2996	6612											
SLC38A3	10991	broad.mit.edu	37	3	50252882	50252882	+	RNA	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:50252882G>T	ENST00000420502.1	+	0	517							Q99624	S38A3_HUMAN	solute carrier family 38, member 3						cellular nitrogen compound metabolic process|sodium ion transport	integral to plasma membrane	antiporter activity|L-alanine transmembrane transporter activity|L-asparagine transmembrane transporter activity|L-glutamine transmembrane transporter activity|L-histidine transmembrane transporter activity|symporter activity			breast(1)|cervix(1)|endometrium(1)|lung(3)	6				BRCA - Breast invasive adenocarcinoma(193;0.000275)|KIRC - Kidney renal clear cell carcinoma(197;0.00548)|Kidney(197;0.00615)	L-Asparagine(DB00174)|L-Glutamine(DB00130)|L-Histidine(DB00117)	CAAGTCCTCAGGGGTCGTGGG	0.587													6	61					1.12685e-05	1.27052e-05	1	1	0	T	50252882	G	T	50252882	1	4	81	0	1	0	0	0	0	0	0	0	14660	1000	35	4		4	SLC38A3	3	50252882	RNA	SNP	G	TCGA-DU-6392-01A-11D-1705-08	32761	50252882	147769548	2997	6613											
SLC38A3	10991	broad.mit.edu	37	3	50253068	50253068	+	RNA	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:50253068G>T	ENST00000420502.1	+	0	619							Q99624	S38A3_HUMAN	solute carrier family 38, member 3						cellular nitrogen compound metabolic process|sodium ion transport	integral to plasma membrane	antiporter activity|L-alanine transmembrane transporter activity|L-asparagine transmembrane transporter activity|L-glutamine transmembrane transporter activity|L-histidine transmembrane transporter activity|symporter activity			breast(1)|cervix(1)|endometrium(1)|lung(3)	6				BRCA - Breast invasive adenocarcinoma(193;0.000275)|KIRC - Kidney renal clear cell carcinoma(197;0.00548)|Kidney(197;0.00615)	L-Asparagine(DB00174)|L-Glutamine(DB00130)|L-Histidine(DB00117)	GAACATCGGAGGTAAGAGCAG	0.657													10	24					1.58986e-06	1.82794e-06	1	1	0	T	50253068	G	T	50253068	1	4	81	0	1	0	0	0	0	0	0	0	14660	1014	35	4		4	SLC38A3	3	50253068	RNA	SNP	G	TCGA-DU-6392-01A-11D-1705-08	186	50253068	147769362	2998	6614											
GNAI2	2771	broad.mit.edu	37	3	50293708	50293708	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:50293708G>A	ENST00000313601.6	+	5	933	c.549G>A	c.(547-549)acG>acA	p.T183T	GNAI2_ENST00000536647.1_Silent_p.T102T|GNAI2_ENST00000422163.1_Silent_p.T167T|GNAI2_ENST00000451956.1_Silent_p.T146T|GNAI2_ENST00000440628.1_Silent_p.T131T|GNAI2_ENST00000266027.5_Silent_p.T167T|GNAI2_ENST00000491100.1_3'UTR	NM_002070.2	NP_002061.1	P04899	GNAI2_HUMAN	guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 2	183					adenosine receptor signaling pathway|cell cycle|cell division|gamma-aminobutyric acid signaling pathway|inhibition of adenylate cyclase activity by G-protein signaling pathway|negative regulation of calcium ion transport via voltage-gated calcium channel activity|platelet activation|response to nutrient|synaptic transmission	centrosome|heterotrimeric G-protein complex|midbody	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|liver(2)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;0.000288)|KIRC - Kidney renal clear cell carcinoma(197;0.00571)|Kidney(197;0.00651)		TAAAGACCACGGGGATCGTGG	0.592													14	28					0	0	1	0	0	A	50293708	G	A	50293708	2	1	81	1	0	0	0	0	0	0	0	1	6547	1103	39	1		1	GNAI2	3	50293708	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	40640	50293708	147728722	2999	6615											
GNAI2	2771	broad.mit.edu	37	3	50294242	50294242	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:50294242C>A	ENST00000313601.6	+	6	1065	c.681C>A	c.(679-681)gcC>gcA	p.A227A	GNAI2_ENST00000536647.1_Silent_p.A146A|GNAI2_ENST00000422163.1_Silent_p.A211A|GNAI2_ENST00000451956.1_Silent_p.A190A|GNAI2_ENST00000440628.1_Silent_p.A175A|GNAI2_ENST00000266027.5_Silent_p.A211A|GNAI2_ENST00000491100.1_3'UTR	NM_002070.2	NP_002061.1	P04899	GNAI2_HUMAN	guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 2	227					adenosine receptor signaling pathway|cell cycle|cell division|gamma-aminobutyric acid signaling pathway|inhibition of adenylate cyclase activity by G-protein signaling pathway|negative regulation of calcium ion transport via voltage-gated calcium channel activity|platelet activation|response to nutrient|synaptic transmission	centrosome|heterotrimeric G-protein complex|midbody	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|liver(2)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;0.000288)|KIRC - Kidney renal clear cell carcinoma(197;0.00571)|Kidney(197;0.00651)		TCTGCGTAGCCTTGAGCGCCT	0.572													16	59					2.32078e-09	2.80257e-09	1	1	0	A	50294242	C	A	50294242	2	1	81	1	0	0	0	0	0	0	0	1	6547	668	24	4		4	GNAI2	3	50294242	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	534	50294242	147728188	3000	6616											
RASSF1	11186	broad.mit.edu	37	3	50368872	50368872	+	Missense_Mutation	SNP	G	G	A	rs146926693		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:50368872G>A	ENST00000359365.4	-	5	875	c.769C>T	c.(769-771)Cgg>Tgg	p.R257W	RASSF1_ENST00000357043.2_Missense_Mutation_p.R261W|RASSF1_ENST00000395126.3_Missense_Mutation_p.R106W|RASSF1_ENST00000327761.3_Missense_Mutation_p.R187W	NM_001206957.1|NM_007182.4|NM_170714.1	NP_001193886.1|NP_009113.3|NP_733832.1	Q9NS23	RASF1_HUMAN	Ras association (RalGDS/AF-6) domain family member 1	261	Ras-associating.				cell cycle arrest|negative regulation of cell cycle arrest|positive regulation of protein ubiquitination|protein stabilization|Ras protein signal transduction|response to DNA damage stimulus	microtubule|microtubule cytoskeleton|microtubule organizing center|nucleus|spindle pole	identical protein binding|protein binding|protein N-terminus binding|zinc ion binding			lung(2)|ovary(1)|skin(1)|urinary_tract(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.000278)|OV - Ovarian serous cystadenocarcinoma(275;0.0015)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		AACAGCTTCCGCAAGTACACT	0.582													17	20					0	0	1	0	0	A	50368872	G	A	50368872	3	1	81	1	0	0	0	0	1	0	0	0	13136	1086	38	1	261	1	RASSF1	3	50368872	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	74630	50368872	147653558	3001	6617											
ZMYND10	51364	broad.mit.edu	37	3	50379074	50379074	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:50379074C>T	ENST00000231749.3	-	11	2450	c.1178G>A	c.(1177-1179)cGc>cAc	p.R393H	ZMYND10-AS1_ENST00000440013.1_RNA|ZMYND10_ENST00000360165.3_Missense_Mutation_p.R388H|ZMYND10_ENST00000490675.1_5'UTR	NM_015896.2	NP_056980.2	O75800	ZMY10_HUMAN	zinc finger, MYND-type containing 10	393						cytoplasm	protein binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|urinary_tract(2)	14				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		GTAAGCACAGCGGGGCCGCTC	0.587										TSP Lung(30;0.18)			15	26					0	0	1	0	0	T	50379074	C	T	50379074	3	4	81	1	0	0	0	0	1	0	0	0	17763	768	27	1	152	1	ZMYND10	3	50379074	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	10202	50379074	147643356	3002	6618											
ZMYND10	51364	broad.mit.edu	37	3	50381223	50381223	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:50381223G>T	ENST00000231749.3	-	3	1532	c.260C>A	c.(259-261)cCt>cAt	p.P87H	ZMYND10-AS1_ENST00000440013.1_RNA|ZMYND10_ENST00000360165.3_Missense_Mutation_p.P87H	NM_015896.2	NP_056980.2	O75800	ZMY10_HUMAN	zinc finger, MYND-type containing 10	87						cytoplasm	protein binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|urinary_tract(2)	14				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		GCAGAACACAGGGAACACCTT	0.557										TSP Lung(30;0.18)			13	72					5.50884e-06	6.24461e-06	1	1	0	T	50381223	G	T	50381223	3	4	81	1	0	0	0	0	1	0	0	0	17763	1000	35	4	1102	4	ZMYND10	3	50381223	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2149	50381223	147641207	3003	6619											
NPRL2	10641	broad.mit.edu	37	3	50385824	50385824	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:50385824G>T	ENST00000232501.3	-	8	1176	c.738C>A	c.(736-738)tgC>tgA	p.C246*	NPRL2_ENST00000493465.1_Intron	NM_006545.4	NP_006536.3	Q8WTW4	NPRL2_HUMAN	nitrogen permease regulator-like 2 (S. cerevisiae)	246					negative regulation of kinase activity		protein binding|protein kinase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|urinary_tract(1)	11						TGGGCGTTGGGCAGTATACAT	0.567													4	41					0.00909568	0.00944708	1	1	0	T	50385824	G	T	50385824	4	4	81	1	0	0	0	0	0	1	0	0	10645	1195	42	5	420	5	NPRL2	3	50385824	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	4601	50385824	147636606	3004	6620											
CYB561D2	11068	broad.mit.edu	37	3	50391089	50391089	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:50391089G>T	ENST00000418577.1	+	3	1159	c.583G>T	c.(583-585)Gct>Tct	p.A195S	CYB561D2_ENST00000424512.1_Missense_Mutation_p.A195S|XXcos-LUCA11.5_ENST00000606589.1_Intron|CYB561D2_ENST00000425346.1_Missense_Mutation_p.A195S|CYB561D2_ENST00000232508.5_Missense_Mutation_p.A195S			O14569	C56D2_HUMAN	cytochrome b561 family, member D2	195	Cytochrome b561.				electron transport chain|transport	integral to membrane	metal ion binding			endometrium(1)|lung(1)|urinary_tract(1)	3				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		CTGGTACCTGGCTGTATTATG	0.562													43	81					1.30475e-32	1.74313e-32	1	1	0	T	50391089	G	T	50391089	3	4	81	1	0	0	0	0	1	0	0	0	4144	1203	42	5	593	5	CYB561D2	3	50391089	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	5265	50391089	147631341	3005	6621											
CACNA2D2	9254	broad.mit.edu	37	3	50405102	50405102	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:50405102G>A	ENST00000435965.1	-	27	2462	c.2289C>T	c.(2287-2289)gaC>gaT	p.D763D	XXcos-LUCA11.5_ENST00000606589.1_Intron|CACNA2D2_ENST00000360963.3_Silent_p.D687D|XXcos-LUCA11.4_ENST00000606259.1_RNA|CACNA2D2_ENST00000423994.2_Silent_p.D763D|XXcos-LUCA11.4_ENST00000607121.1_RNA|XXcos-LUCA11.4_ENST00000607088.1_RNA|CACNA2D2_ENST00000395083.1_Silent_p.D756D|XXcos-LUCA11.4_ENST00000606665.1_RNA|XXcos-LUCA11.4_ENST00000607362.1_RNA|CACNA2D2_ENST00000429770.1_Silent_p.D756D|CACNA2D2_ENST00000266039.3_Silent_p.D756D|CACNA2D2_ENST00000424201.2_Silent_p.D756D|CACNA2D2_ENST00000479441.1_Silent_p.D763D			Q9NY47	CA2D2_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 2	763					energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			breast(3)|cervix(1)|endometrium(4)|large_intestine(4)|lung(8)|ovary(2)|prostate(4)|skin(4)|urinary_tract(1)	31				BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	Gabapentin(DB00996)	TGATGCCACCGTCTGTGGCAG	0.642													9	22					0	0	1	0	0	A	50405102	G	A	50405102	2	1	81	1	0	0	0	0	0	0	0	1	2567	1136	40	1		1	CACNA2D2	3	50405102	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	14013	50405102	147617328	3006	6622											
CACNA2D2	9254	broad.mit.edu	37	3	50417156	50417156	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:50417156C>T	ENST00000435965.1	-	10	1166	c.993G>A	c.(991-993)tcG>tcA	p.S331S	CACNA2D2_ENST00000360963.3_Splice_Site_p.S262S|CACNA2D2_ENST00000423994.2_Splice_Site_p.S331S|CACNA2D2_ENST00000395083.1_Splice_Site_p.S331S|CACNA2D2_ENST00000429770.1_Splice_Site_p.S331S|CACNA2D2_ENST00000266039.3_Splice_Site_p.S331S|CACNA2D2_ENST00000424201.2_Splice_Site_p.S331S|CACNA2D2_ENST00000479441.1_Splice_Site_p.S331S			Q9NY47	CA2D2_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 2	331	VWFA.				energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			breast(3)|cervix(1)|endometrium(4)|large_intestine(4)|lung(8)|ovary(2)|prostate(4)|skin(4)|urinary_tract(1)	31				BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	Gabapentin(DB00996)	TGGCACTCACCGAGGCCACAT	0.592													11	22					0	0	1	0	0	T	50417156	C	T	50417156	5	4	81	1	0	0	0	0	0	0	1	0	2567	666	23	1	2585	1	CACNA2D2	3	50417156	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	12054	50417156	147605274	3007	6623											
MAPKAPK3	7867	broad.mit.edu	37	3	50677823	50677823	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:50677823G>A	ENST00000446044.1	+	5	842	c.246G>A	c.(244-246)cgG>cgA	p.R82R	MAPKAPK3_ENST00000357955.2_Silent_p.R82R	NM_001243926.1	NP_001230855.1	Q16644	MAPK3_HUMAN	mitogen-activated protein kinase-activated protein kinase 3	82	Protein kinase.				activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein serine/threonine kinase activity			central_nervous_system(1)|ovary(1)	2				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.0188)|Kidney(197;0.0223)		CCAAGGCCCGGCAGGAGGTAG	0.532													14	124					0	0	1	0	0	A	50677823	G	A	50677823	2	1	81	1	0	0	0	0	0	0	0	1	9340	1190	42	2		2	MAPKAPK3	3	50677823	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	260667	50677823	147344607	3008	6624											
MAPKAPK3	7867	broad.mit.edu	37	3	50683654	50683654	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:50683654A>G	ENST00000446044.1	+	10	1384	c.788A>G	c.(787-789)tAc>tGc	p.Y263C	MAPKAPK3_ENST00000357955.2_Missense_Mutation_p.Y263C	NM_001243926.1	NP_001230855.1	Q16644	MAPK3_HUMAN	mitogen-activated protein kinase-activated protein kinase 3	263	Protein kinase.				activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein serine/threonine kinase activity			central_nervous_system(1)|ovary(1)	2				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.0188)|Kidney(197;0.0223)		CTGGGCCAGTACGGCTTCCCC	0.607													11	119					0	0	1	0	0	G	50683654	A	G	50683654	3	3	81	1	0	0	0	0	1	0	0	0	9340	391	14	3	814	3	MAPKAPK3	3	50683654	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	5831	50683654	147338776	3009	6625											
DOCK3	1795	broad.mit.edu	37	3	51127792	51127792	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:51127792C>T	ENST00000266037.9	+	9	746	c.723C>T	c.(721-723)gaC>gaT	p.D241D		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	241						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		CCTTATATGACATGAGGGAAG	0.458													7	14					0	0	1	0	0	T	51127792	C	T	51127792	2	4	81	1	0	0	0	0	0	0	0	1	4715	477	17	2		2	DOCK3	3	51127792	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	444138	51127792	146894638	3010	6626											
DOCK3	1795	broad.mit.edu	37	3	51263172	51263172	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:51263172T>C	ENST00000266037.9	+	15	1368	c.1345T>C	c.(1345-1347)Tat>Cat	p.Y449H		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	449	DHR-1.					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		AGTGACCATGTATGTGCTTTA	0.443													42	57					0	0	1	0	0	C	51263172	T	C	51263172	3	2	81	1	0	0	0	0	1	0	0	0	4715	1638	57	3	1403	3	DOCK3	3	51263172	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	135380	51263172	146759258	3011	6627											
DOCK3	1795	broad.mit.edu	37	3	51264830	51264830	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:51264830C>T	ENST00000266037.9	+	16	1517	c.1494C>T	c.(1492-1494)gaC>gaT	p.D498D		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	498	DHR-1.					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		TCCCCATTGACCGGTTCCGGG	0.483													30	49					0	0	1	0	0	T	51264830	C	T	51264830	2	4	81	1	0	0	0	0	0	0	0	1	4715	506	18	2		2	DOCK3	3	51264830	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1658	51264830	146757600	3012	6628											
DOCK3	1795	broad.mit.edu	37	3	51395449	51395449	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:51395449C>T	ENST00000266037.9	+	46	4848	c.4825C>T	c.(4825-4827)Cgg>Tgg	p.R1609W		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	1609	DHR-2.					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		CCCAGAAATGCGGCCTCTGCA	0.498													39	52					0	0	1	0	0	T	51395449	C	T	51395449	3	4	81	1	0	0	0	0	1	0	0	0	4715	759	27	1	5007	1	DOCK3	3	51395449	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	130619	51395449	146626981	3013	6629											
RAD54L2	23132	broad.mit.edu	37	3	51667724	51667724	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:51667724C>T	ENST00000409535.2	+	7	1082	c.957C>T	c.(955-957)atC>atT	p.I319I	RAD54L2_ENST00000296477.3_Silent_p.I13I	NM_015106.2	NP_055921.2	Q9Y4B4	ARIP4_HUMAN	RAD54-like 2 (S. cerevisiae)		Helicase ATP-binding.					nucleus	ATP binding|DNA binding|helicase activity			NS(2)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|liver(2)|lung(9)|ovary(4)|skin(2)	31				BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896)		TCTCTTTCATCGACGTCCTCT	0.517													30	47					0	0	1	0	0	T	51667724	C	T	51667724	2	4	81	1	0	0	0	0	0	0	0	1	13046	874	31	1		1	RAD54L2	3	51667724	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	272275	51667724	146354706	3014	6630											
RAD54L2	23132	broad.mit.edu	37	3	51697257	51697257	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:51697257C>A	ENST00000409535.2	+	22	4350	c.4225C>A	c.(4225-4227)Ctt>Att	p.L1409I	RAD54L2_ENST00000296477.3_Missense_Mutation_p.L1103I	NM_015106.2	NP_055921.2	Q9Y4B4	ARIP4_HUMAN	RAD54-like 2 (S. cerevisiae)							nucleus	ATP binding|DNA binding|helicase activity			NS(2)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|liver(2)|lung(9)|ovary(4)|skin(2)	31				BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896)		GCCCAGCAACCTTTCGCGGGG	0.577													7	72					5.18039e-06	5.88187e-06	1	1	0	A	51697257	C	A	51697257	3	1	81	1	0	0	0	0	1	0	0	0	13046	681	24	4	4307	4	RAD54L2	3	51697257	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	29533	51697257	146325173	3015	6631											
TEX264	51368	broad.mit.edu	37	3	51733425	51733425	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:51733425C>T	ENST00000415259.1	+	4	1565	c.484C>T	c.(484-486)Cgg>Tgg	p.R162W	TEX264_ENST00000416589.1_Missense_Mutation_p.R162W|TEX264_ENST00000463857.1_3'UTR|TEX264_ENST00000395057.1_Missense_Mutation_p.R162W|TEX264_ENST00000341333.5_Missense_Mutation_p.R162W|TEX264_ENST00000457573.1_Missense_Mutation_p.R162W			Q9Y6I9	TX264_HUMAN	testis expressed 264	162						extracellular region				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	7				BRCA - Breast invasive adenocarcinoma(193;8.53e-05)|Kidney(197;0.000594)|KIRC - Kidney renal clear cell carcinoma(197;0.000759)		TGACTAGGAGCGGAAGCTGTG	0.542													5	73					0	0	1	0	0	T	51733425	C	T	51733425	3	4	81	1	0	0	0	0	1	0	0	0	15842	759	27	1	494	1	TEX264	3	51733425	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	36168	51733425	146289005	3016	6632											
GRM2	2912	broad.mit.edu	37	3	51747018	51747018	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:51747018T>G	ENST00000395052.3	+	3	1214	c.980T>G	c.(979-981)tTt>tGt	p.F327C	GRM2_ENST00000442933.2_Missense_Mutation_p.F327C|GRM2_ENST00000475478.1_Intron	NM_000839.3	NP_000830.2	Q14416	GRM2_HUMAN	glutamate receptor, metabotropic 2	327					synaptic transmission	integral to plasma membrane				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Acamprosate(DB00659)|Nicotine(DB00184)	ATCAGTGACTTTGCCTCCTAC	0.617													8	52					0	0	1	0	0	G	51747018	T	G	51747018	3	3	81	1	0	0	0	0	1	0	0	0	6838	1841	64	5	986	5	GRM2	3	51747018	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	13593	51747018	146275412	3017	6633											
GRM2	2912	broad.mit.edu	37	3	51749164	51749164	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:51749164C>A	ENST00000395052.3	+	4	1609	c.1375C>A	c.(1375-1377)Ctg>Atg	p.L459M	GRM2_ENST00000442933.2_Missense_Mutation_p.L459M|GRM2_ENST00000475478.1_3'UTR	NM_000839.3	NP_000830.2	Q14416	GRM2_HUMAN	glutamate receptor, metabotropic 2	459					synaptic transmission	integral to plasma membrane				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Acamprosate(DB00659)|Nicotine(DB00184)	CTTCACCTATCTGCGTGCAGG	0.597													14	21					2.35188e-11	2.91332e-11	1	1	0	A	51749164	C	A	51749164	3	1	81	1	0	0	0	0	1	0	0	0	6838	912	32	4	1385	4	GRM2	3	51749164	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2146	51749164	146273266	3018	6634											
GRM2	2912	broad.mit.edu	37	3	51749692	51749692	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:51749692C>T	ENST00000395052.3	+	4	2137	c.1903C>T	c.(1903-1905)Cgg>Tgg	p.R635W	GRM2_ENST00000442933.2_Intron|GRM2_ENST00000475478.1_3'UTR	NM_000839.3	NP_000830.2	Q14416	GRM2_HUMAN	glutamate receptor, metabotropic 2	635					synaptic transmission	integral to plasma membrane				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Acamprosate(DB00659)|Nicotine(DB00184)	GTGTACCTTACGGCGTCTTGG	0.587													21	39					0	0	1	0	0	T	51749692	C	T	51749692	3	4	81	1	0	0	0	0	1	0	0	0	6838	527	19	1	1913	1	GRM2	3	51749692	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	528	51749692	146272738	3019	6635											
IQCF1	132141	broad.mit.edu	37	3	51937000	51937000	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:51937000C>T	ENST00000310914.5	-	2	171		c.e2+1			NM_152397.2	NP_689610.2	Q8N6M8	IQCF1_HUMAN	IQ motif containing F1											central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		GCTCCTCCTACCTCTGCCTTT	0.493													29	267					0	0	1	0	0	T	51937000	C	T	51937000	5	4	81	1	0	0	0	0	0	0	1	0	7851	521	18	2	520	2	IQCF1	3	51937000	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	187308	51937000	146085430	3020	6636											
PARP3	10039	broad.mit.edu	37	3	51979069	51979069	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:51979069C>T	ENST00000417220.2	+	7	1178	c.690C>T	c.(688-690)ttC>ttT	p.F230F	PARP3_ENST00000431474.1_Silent_p.F230F|PARP3_ENST00000398755.3_Silent_p.F237F			Q9Y6F1	PARP3_HUMAN	poly (ADP-ribose) polymerase family, member 3	230	PARP alpha-helical.				DNA repair|protein ADP-ribosylation	centriole|nucleus	NAD+ ADP-ribosyltransferase activity|protein binding			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		CACGGGGTTTCGAGGCCTTGG	0.617													21	57					0	0	1	0	0	T	51979069	C	T	51979069	2	4	81	1	0	0	0	0	0	0	0	1	11509	883	31	1		1	PARP3	3	51979069	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	42069	51979069	146043361	3021	6637											
PCBP4	57060	broad.mit.edu	37	3	51993277	51993277	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:51993277G>A	ENST00000461554.1	-	11	999	c.668C>T	c.(667-669)gCg>gTg	p.A223V	PCBP4_ENST00000322099.7_Missense_Mutation_p.A223V|PCBP4_ENST00000395014.2_Missense_Mutation_p.A244V|PCBP4_ENST00000395013.3_Missense_Mutation_p.A63V|PCBP4_ENST00000355852.2_Missense_Mutation_p.A223V|PCBP4_ENST00000471622.1_Missense_Mutation_p.A223V|PCBP4_ENST00000428823.2_Missense_Mutation_p.A180V|PCBP4_ENST00000484633.1_Missense_Mutation_p.A180V	NM_001174100.1	NP_001167571.1	P57723	PCBP4_HUMAN	poly(rC) binding protein 4	223						cytoplasm|ribonucleoprotein complex	DNA binding|RNA binding			endometrium(2)|large_intestine(2)|lung(2)|prostate(1)|stomach(1)	8				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		AAAGGGGACCGCATGGCTTGA	0.637													13	33					0	0	1	0	0	A	51993277	G	A	51993277	3	1	81	1	0	0	0	0	1	0	0	0	11550	1087	38	1	559	1	PCBP4	3	51993277	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	14208	51993277	146029153	3022	6638											
RPL29	6159	broad.mit.edu	37	3	52028026	52028026	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:52028026C>T	ENST00000466397.1	-	4	359	c.219G>A	c.(217-219)aaG>aaA	p.K73K	RPL29_ENST00000294189.6_Silent_p.K73K|RPL29_ENST00000479017.1_Silent_p.K73K|RPL29_ENST00000495383.1_Silent_p.K73K|RPL29_ENST00000475248.1_Silent_p.K73K			P47914	RL29_HUMAN	ribosomal protein L29	73					embryo implantation|endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	heparin binding|protein binding|RNA binding|structural constituent of ribosome			lung(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		TTACGAGGGCCTTGATAGCCT	0.547													29	35					0	0	1	0	0	T	52028026	C	T	52028026	2	4	81	1	0	0	0	0	0	0	0	1	13630	680	24	2		2	RPL29	3	52028026	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	34749	52028026	145994404	3023	6639											
RPL29	6159	broad.mit.edu	37	3	52029074	52029074	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:52029074T>C	ENST00000481629.1	-	3	118	c.86A>G	c.(85-87)tAc>tGc	p.Y29C	RPL29_ENST00000466397.1_Missense_Mutation_p.Y29C|RPL29_ENST00000294189.6_Missense_Mutation_p.Y29C|RPL29_ENST00000479017.1_Missense_Mutation_p.Y29C|RPL29_ENST00000495383.1_Missense_Mutation_p.Y29C|RPL29_ENST00000475248.1_Missense_Mutation_p.Y29C			P47914	RL29_HUMAN	ribosomal protein L29	29					embryo implantation|endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	heparin binding|protein binding|RNA binding|structural constituent of ribosome			lung(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		AAGAGATTCGTATCTTTGTGA	0.428													10	135					0	0	1	0	0	C	52029074	T	C	52029074	3	2	81	1	0	0	0	0	1	0	0	0	13630	1638	57	3	401	3	RPL29	3	52029074	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	1048	52029074	145993356	3024	6640											
DUSP7	1849	broad.mit.edu	37	3	52084922	52084922	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:52084922G>A	ENST00000495880.1	-	3	1352	c.1169C>T	c.(1168-1170)cCg>cTg	p.P390L	DUSP7_ENST00000296483.6_Missense_Mutation_p.P339L			Q16829	DUS7_HUMAN	dual specificity phosphatase 7	390					inactivation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein binding|protein tyrosine phosphatase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)	17				BRCA - Breast invasive adenocarcinoma(193;5.14e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		GTTGTCGCACGGGCTGCTTAG	0.572													20	24					0	0	1	0	0	A	52084922	G	A	52084922	3	1	81	1	0	0	0	0	1	0	0	0	4856	1116	39	1	94	1	DUSP7	3	52084922	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	55848	52084922	145937508	3025	6641											
DUSP7	1849	broad.mit.edu	37	3	52088116	52088116	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:52088116G>A	ENST00000495880.1	-	2	975	c.792C>T	c.(790-792)gaC>gaT	p.D264D	DUSP7_ENST00000296483.6_Silent_p.D213D			Q16829	DUS7_HUMAN	dual specificity phosphatase 7	264					inactivation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein binding|protein tyrosine phosphatase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)	17				BRCA - Breast invasive adenocarcinoma(193;5.14e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		TGCCGAGCACGTCCAGGTTGG	0.592													47	65					0	0	1	0	0	A	52088116	G	A	52088116	2	1	81	1	0	0	0	0	0	0	0	1	4856	1136	40	1		1	DUSP7	3	52088116	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	3194	52088116	145934314	3026	6642											
DUSP7	1849	broad.mit.edu	37	3	52088295	52088295	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:52088295G>A	ENST00000495880.1	-	2	796	c.613C>T	c.(613-615)Ctg>Ttg	p.L205L	DUSP7_ENST00000296483.6_Silent_p.L154L			Q16829	DUS7_HUMAN	dual specificity phosphatase 7	205	Ser-rich.				inactivation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein binding|protein tyrosine phosphatase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)	17				BRCA - Breast invasive adenocarcinoma(193;5.14e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		CCCAGGCCCAGCACTGAGGTG	0.637													22	30					0	0	1	0	0	A	52088295	G	A	52088295	2	1	81	1	0	0	0	0	0	0	0	1	4856	962	34	2		2	DUSP7	3	52088295	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	179	52088295	145934135	3027	6643											
ALAS1	211	broad.mit.edu	37	3	52238733	52238733	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:52238733G>A	ENST00000394965.2	+	6	962	c.602G>A	c.(601-603)cGt>cAt	p.R201H	ALAS1_ENST00000484952.1_Missense_Mutation_p.R201H|ALAS1_ENST00000310271.2_Missense_Mutation_p.R201H|ALAS1_ENST00000469224.1_Missense_Mutation_p.R201H	NM_000688.5	NP_000679.1	P13196	HEM1_HUMAN	aminolevulinate, delta-, synthase 1	201					heme biosynthetic process	mitochondrial matrix	5-aminolevulinate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			endometrium(3)|kidney(3)|large_intestine(7)|liver(2)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.000583)|KIRC - Kidney renal clear cell carcinoma(197;0.000751)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	CAGTATGATCGTTTCTTTGAG	0.383													16	29					0	0	1	0	0	A	52238733	G	A	52238733	3	1	81	1	0	0	0	0	1	0	0	0	481	1145	40	1	616	1	ALAS1	3	52238733	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	150438	52238733	145783697	3028	6644											
TLR9	54106	broad.mit.edu	37	3	52256729	52256729	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:52256729G>T	ENST00000597542.1	-	9	2632	c.1675C>A	c.(1675-1677)Ctc>Atc	p.L559I	TLR9_ENST00000360658.2_Missense_Mutation_p.L535I|TLR9_ENST00000494383.1_Missense_Mutation_p.P688H			Q9NR96	TLR9_HUMAN	toll-like receptor 9	535					defense response to bacterium|fibroblast growth factor receptor signaling pathway|I-kappaB phosphorylation|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin	apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome	interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity			endometrium(4)|large_intestine(11)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Chloroquine(DB00608)	TCGTGGTAGAGGTCCAGCTTA	0.612													5	50					0.014758	0.0152304	1	1	0	T	52256729	G	T	52256729	3	4	81	1	0	0	0	0	1	0	0	0	16018	1000	35	4	1499	4	TLR9	3	52256729	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	17996	52256729	145765701	3029	6645											
DNAH1	25981	broad.mit.edu	37	3	52387488	52387488	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:52387488C>T	ENST00000420323.2	+	20	3580	c.3319C>T	c.(3319-3321)Cgg>Tgg	p.R1107W		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	1107	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CCCTGGCATGCGGATCCGGCA	0.607													10	34					0	0	1	0	0	T	52387488	C	T	52387488	3	4	81	1	0	0	0	0	1	0	0	0	4625	759	27	1	3393	1	DNAH1	3	52387488	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	130759	52387488	145634942	3030	6646											
DNAH1	25981	broad.mit.edu	37	3	52398868	52398868	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:52398868C>T	ENST00000420323.2	+	34	5612	c.5351C>T	c.(5350-5352)gCc>gTc	p.A1784V		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	1784					ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		TGCCTCCGGGCCATCCGTGAT	0.632													11	24					0	0	1	0	0	T	52398868	C	T	52398868	3	4	81	1	0	0	0	0	1	0	0	0	4625	739	26	2	5481	2	DNAH1	3	52398868	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	11380	52398868	145623562	3031	6647											
DNAH1	25981	broad.mit.edu	37	3	52398885	52398885	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:52398885G>A	ENST00000420323.2	+	34	5629	c.5368G>A	c.(5368-5370)Gtg>Atg	p.V1790M		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	1790					ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		TGATGTGAACGTGCCCAAGTT	0.632													12	27					0	0	1	0	0	A	52398885	G	A	52398885	3	1	81	1	0	0	0	0	1	0	0	0	4625	1145	40	1	5498	1	DNAH1	3	52398885	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	17	52398885	145623545	3032	6648											
DNAH1	25981	broad.mit.edu	37	3	52409983	52409983	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:52409983G>A	ENST00000420323.2	+	46	7433	c.7172G>A	c.(7171-7173)gGa>gAa	p.G2391E		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	2391	AAA 3 (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GGACTCCTTGGAGAAAAAAGC	0.607													34	58					0	0	1	0	0	A	52409983	G	A	52409983	3	1	81	1	0	0	0	0	1	0	0	0	4625	1174	41	2	7350	2	DNAH1	3	52409983	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	11098	52409983	145612447	3033	6649											
DNAH1	25981	broad.mit.edu	37	3	52417476	52417476	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:52417476G>A	ENST00000420323.2	+	51	8277	c.8016G>A	c.(8014-8016)gcG>gcA	p.A2672A		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	2672	AAA 4 (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		TGTATACTGCGGACGAGCAGG	0.557													4	11					0	0	1	0	0	A	52417476	G	A	52417476	2	1	81	1	0	0	0	0	0	0	0	1	4625	1103	39	1		1	DNAH1	3	52417476	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	7493	52417476	145604954	3034	6650											
DNAH1	25981	broad.mit.edu	37	3	52427409	52427409	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:52427409A>G	ENST00000420323.2	+	66	10795	c.10534A>G	c.(10534-10536)Aac>Gac	p.N3512D		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	3577					ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CCTCTACAGCAACGTCTGCCG	0.542													17	30					0	0	1	0	0	G	52427409	A	G	52427409	3	3	81	1	0	0	0	0	1	0	0	0	4625	130	5	3	10792	3	DNAH1	3	52427409	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	9933	52427409	145595021	3035	6651											
DNAH1	25981	broad.mit.edu	37	3	52434366	52434366	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:52434366T>C	ENST00000420323.2	+	78	12963	c.12702T>C	c.(12700-12702)tcT>tcC	p.S4234S		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	4299					ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CAGGACACTCTACCAACTATG	0.557													64	90					0	0	1	0	0	C	52434366	T	C	52434366	2	2	81	1	0	0	0	0	0	0	0	1	4625	1509	53	3		3	DNAH1	3	52434366	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	6957	52434366	145588064	3036	6652											
SEMA3G	56920	broad.mit.edu	37	3	52476300	52476300	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:52476300C>T	ENST00000231721.2	-	4	359	c.360G>A	c.(358-360)gtG>gtA	p.V120V		NM_020163.1	NP_064548.1	Q9NS98	SEM3G_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3G	120	Sema.				multicellular organismal development	extracellular region|membrane	receptor activity			kidney(1)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)	18				BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00173)|KIRC - Kidney renal clear cell carcinoma(197;0.00196)|OV - Ovarian serous cystadenocarcinoma(275;0.0333)		GTAGCACCCGCACGAAGTTGG	0.667													4	51					0	0	1	0	0	T	52476300	C	T	52476300	2	4	81	1	0	0	0	0	0	0	0	1	14084	697	25	2		2	SEMA3G	3	52476300	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	41934	52476300	145546130	3037	6653											
TNNC1	7134	broad.mit.edu	37	3	52485835	52485835	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:52485835A>G	ENST00000232975.3	-	4	296	c.242T>C	c.(241-243)aTg>aCg	p.M81T		NM_003280.2	NP_003271.1	P63316	TNNC1_HUMAN	troponin C type 1 (slow)	81	EF-hand 2.				cardiac muscle contraction|muscle filament sliding|regulation of ATPase activity|regulation of muscle filament sliding speed|ventricular cardiac muscle tissue morphogenesis	cytosol|troponin complex	actin filament binding|calcium ion binding|calcium-dependent protein binding|protein homodimerization activity|troponin I binding|troponin T binding			endometrium(1)|lung(3)|ovary(1)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00175)|KIRC - Kidney renal clear cell carcinoma(197;0.00198)|OV - Ovarian serous cystadenocarcinoma(275;0.0525)	Bepridil(DB01244)|Dihydroxyaluminium(DB01375)|Levosimendan(DB00922)	GCACCGAACCATCATGACCAG	0.577													4	52					0	0	1	0	0	G	52485835	A	G	52485835	3	3	81	1	0	0	0	0	1	0	0	0	16384	217	8	3	255	3	TNNC1	3	52485835	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	9535	52485835	145536595	3038	6654											
NISCH	11188	broad.mit.edu	37	3	52492834	52492834	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:52492834G>A	ENST00000345716.4	+	3	468	c.334G>A	c.(334-336)Gcc>Acc	p.A112T	NISCH_ENST00000479054.1_Missense_Mutation_p.A112T|NISCH_ENST00000488380.1_Missense_Mutation_p.A112T|NISCH_ENST00000420808.2_Missense_Mutation_p.A112T	NM_007184.3	NP_009115	Q9Y2I1	NISCH_HUMAN	nischarin	112	Necessary for binding to phosphoinositide-3-P; not sufficient for targeting to endosomes.|PX.				apoptosis|cell communication	cytosol|early endosome|plasma membrane|recycling endosome	phosphatidylinositol binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)		CAGAGTACTGGCCCACTTCTT	0.527													33	45					0	0	1	0	0	A	52492834	G	A	52492834	3	1	81	1	0	0	0	0	1	0	0	0	10479	1203	42	2	344	2	NISCH	3	52492834	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	6999	52492834	145529596	3039	6655											
NISCH	11188	broad.mit.edu	37	3	52521900	52521900	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:52521900G>A	ENST00000345716.4	+	16	2526	c.2392G>A	c.(2392-2394)Gcc>Acc	p.A798T	NISCH_ENST00000479054.1_Missense_Mutation_p.A798T	NM_007184.3	NP_009115	Q9Y2I1	NISCH_HUMAN	nischarin	798	Interaction with ITGA5 (By similarity).|Interaction with LIMK (By similarity).|Interaction with PAK1 (By similarity).				apoptosis|cell communication	cytosol|early endosome|plasma membrane|recycling endosome	phosphatidylinositol binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)		CTCGGACGCCGCCAACCTGCA	0.607													14	10					0	0	1	0	0	A	52521900	G	A	52521900	3	1	81	1	0	0	0	0	1	0	0	0	10479	1087	38	1	2454	1	NISCH	3	52521900	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	29066	52521900	145500530	3040	6656											
NISCH	11188	broad.mit.edu	37	3	52522138	52522138	+	Missense_Mutation	SNP	G	G	A	rs150671822		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:52522138G>A	ENST00000345716.4	+	16	2764	c.2630G>A	c.(2629-2631)gGc>gAc	p.G877D	NISCH_ENST00000479054.1_Missense_Mutation_p.G877D	NM_007184.3	NP_009115	Q9Y2I1	NISCH_HUMAN	nischarin	877					apoptosis|cell communication	cytosol|early endosome|plasma membrane|recycling endosome	phosphatidylinositol binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)		GACTACTCAGGCAACATCGAG	0.682													12	18					0	0	1	0	0	A	52522138	G	A	52522138	3	1	81	1	0	0	0	0	1	0	0	0	10479	1203	42	2	2692	2	NISCH	3	52522138	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	238	52522138	145500292	3041	6657											
STAB1	23166	broad.mit.edu	37	3	52547929	52547929	+	Missense_Mutation	SNP	G	G	A	rs2286786	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:52547929G>A	ENST00000321725.6	+	32	3455	c.3379G>A	c.(3379-3381)Ggt>Agt	p.G1127S		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	1127			G -> R (in dbSNP:rs2286786).		cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		GGATGTGCCCGGTGGGCAGGG	0.622													21	162					0	0	1	0	0	A	52547929	G	A	52547929	3	1	81	1	0	0	0	0	1	0	0	0	15293	1116	39	1	3505	1	STAB1	3	52547929	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	25791	52547929	145474501	3042	6658											
STAB1	23166	broad.mit.edu	37	3	52553295	52553295	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:52553295A>G	ENST00000321725.6	+	49	5126	c.5050A>G	c.(5050-5052)Aat>Gat	p.N1684D		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	1684	FAS1 5.				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		CATATACCTCAATGACTTCGC	0.642													6	134					0	0	1	0	0	G	52553295	A	G	52553295	3	3	81	1	0	0	0	0	1	0	0	0	15293	130	5	3	5244	3	STAB1	3	52553295	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	5366	52553295	145469135	3043	6659											
STAB1	23166	broad.mit.edu	37	3	52556111	52556111	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:52556111G>A	ENST00000321725.6	+	59	6406	c.6330G>A	c.(6328-6330)caG>caA	p.Q2110Q		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	2110	EGF-like 15.				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		ACTGTAGCCAGGTAGGAACAA	0.652													15	17					0	0	1	0	0	A	52556111	G	A	52556111	2	1	81	1	0	0	0	0	0	0	0	1	15293	991	35	2		2	STAB1	3	52556111	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2816	52556111	145466319	3044	6660											
STAB1	23166	broad.mit.edu	37	3	52556370	52556370	+	Missense_Mutation	SNP	G	G	A	rs141937769		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:52556370G>A	ENST00000321725.6	+	60	6566	c.6490G>A	c.(6490-6492)Gca>Aca	p.A2164T		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	2164	EGF-like 16.				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		TGAGTGCCACGCAGGCTACGT	0.647													13	33					0	0	1	0	0	A	52556370	G	A	52556370	3	1	81	1	0	0	0	0	1	0	0	0	15293	1087	38	1	6728	1	STAB1	3	52556370	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	259	52556370	145466060	3045	6661											
STAB1	23166	broad.mit.edu	37	3	52557070	52557070	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:52557070G>A	ENST00000321725.6	+	63	7016	c.6940G>A	c.(6940-6942)Gtg>Atg	p.V2314M		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	2314					cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		AAATGGCTTCGTGGGTGACGG	0.597													33	39					0	0	1	0	0	A	52557070	G	A	52557070	3	1	81	1	0	0	0	0	1	0	0	0	15293	1145	40	1	7190	1	STAB1	3	52557070	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	700	52557070	145465360	3046	6662											
PBRM1	55193	broad.mit.edu	37	3	52598163	52598163	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:52598163G>A	ENST00000356770.4	-	22	3684	c.3682C>T	c.(3682-3684)Cgc>Tgc	p.R1228C	PBRM1_ENST00000296302.7_Missense_Mutation_p.R1260C|PBRM1_ENST00000394830.3_Missense_Mutation_p.R1235C|PBRM1_ENST00000337303.4_Missense_Mutation_p.R1260C|SMIM4_ENST00000476842.1_Intron|PBRM1_ENST00000409114.3_Missense_Mutation_p.R1275C|PBRM1_ENST00000409767.1_Missense_Mutation_p.R1275C|PBRM1_ENST00000410007.1_Missense_Mutation_p.R1235C|PBRM1_ENST00000409057.1_Missense_Mutation_p.R1260C			Q86U86	PB1_HUMAN	polybromo 1	1260	BAH 2.				chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		TCATTGTAGCGGCTCTCACAA	0.408			"Mis, N, F, S, D, O"		"clear cell renal carcinoma, breast"								25	42					0	0	1	0	0	A	52598163	G	A	52598163	3	1	81	1	0	0	0	0	1	0	0	0	11538	1116	39	1	1154	1	PBRM1	3	52598163	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	41093	52598163	145424267	3047	6663											
PBRM1	55193	broad.mit.edu	37	3	52637555	52637555	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:52637555G>A	ENST00000356770.4	-	16	2667	c.2665C>T	c.(2665-2667)Cga>Tga	p.R889*	PBRM1_ENST00000296302.7_Nonsense_Mutation_p.R921*|PBRM1_ENST00000394830.3_Nonsense_Mutation_p.R921*|PBRM1_ENST00000337303.4_Nonsense_Mutation_p.R921*|PBRM1_ENST00000409114.3_Nonsense_Mutation_p.R936*|PBRM1_ENST00000409767.1_Nonsense_Mutation_p.R936*|PBRM1_ENST00000410007.1_Nonsense_Mutation_p.R921*|PBRM1_ENST00000409057.1_Nonsense_Mutation_p.R921*			Q86U86	PB1_HUMAN	polybromo 1	921					chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding	p.R921*(2)|p.R889*(1)		breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		TCTTCTTCTCGTTTTAGTTTA	0.343			"Mis, N, F, S, D, O"		"clear cell renal carcinoma, breast"								15	20					0	0	1	0	0	A	52637555	G	A	52637555	4	1	81	1	0	0	0	0	0	1	0	0	11538	1153	40	1	2195	1	PBRM1	3	52637555	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	39392	52637555	145384875	3048	6664											
PBRM1	55193	broad.mit.edu	37	3	52643916	52643916	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:52643916C>A	ENST00000356770.4	-	15	1886	c.1884G>T	c.(1882-1884)caG>caT	p.Q628H	PBRM1_ENST00000296302.7_Missense_Mutation_p.Q660H|PBRM1_ENST00000394830.3_Missense_Mutation_p.Q660H|PBRM1_ENST00000337303.4_Missense_Mutation_p.Q660H|PBRM1_ENST00000409114.3_Missense_Mutation_p.Q675H|PBRM1_ENST00000409767.1_Missense_Mutation_p.Q675H|PBRM1_ENST00000410007.1_Missense_Mutation_p.Q660H|PBRM1_ENST00000409057.1_Missense_Mutation_p.Q660H			Q86U86	PB1_HUMAN	polybromo 1	660					chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		CATTTAGTTTCTGCTGCATTG	0.378			"Mis, N, F, S, D, O"		"clear cell renal carcinoma, breast"								49	117					2.72333e-11	3.36953e-11	1	1	0	A	52643916	C	A	52643916	3	1	81	1	0	0	0	0	1	0	0	0	11538	912	32	4	2980	4	PBRM1	3	52643916	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	6361	52643916	145378514	3049	6665											
PBRM1	55193	broad.mit.edu	37	3	52668759	52668760	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:52668759_52668760insA	ENST00000356770.4	-	10	1065_1066	c.1063_1064insT	c.(1063-1065)tatfs	p.Y355fs	PBRM1_ENST00000337303.4_Frame_Shift_Ins_p.Y387fs|PBRM1_ENST00000409057.1_Frame_Shift_Ins_p.Y387fs|PBRM1_ENST00000296302.7_Frame_Shift_Ins_p.Y387fs|PBRM1_ENST00000409767.1_Frame_Shift_Ins_p.Y387fs|PBRM1_ENST00000410007.1_Frame_Shift_Ins_p.Y387fs|PBRM1_ENST00000409114.3_Frame_Shift_Ins_p.Y387fs|PBRM1_ENST00000394830.3_Frame_Shift_Ins_p.Y387fs			Q86U86	PB1_HUMAN	polybromo 1	387					chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		ATAAAGCTGATAAAAAGGATTT	0.371			"Mis, N, F, S, D, O"		"clear cell renal carcinoma, breast"								53	55	---	---	---	---						A	52668760	-	A	52668759	7	5	81	1	0	1	1	0	0	0	0	0	11538	1406	49	0	3820	0	PBRM1	3	52668759	Frame_Shift_Ins	INS	-	TCGA-DU-6392-01A-11D-1705-08	24843	52668759	145353671	3050	6666											
PBRM1	55193	broad.mit.edu	37	3	52678781	52678781	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:52678781A>C	ENST00000356770.4	-	8	840	c.838T>G	c.(838-840)Ttt>Gtt	p.F280V	PBRM1_ENST00000296302.7_Missense_Mutation_p.F280V|PBRM1_ENST00000394830.3_Missense_Mutation_p.F280V|PBRM1_ENST00000337303.4_Missense_Mutation_p.F280V|PBRM1_ENST00000409114.3_Missense_Mutation_p.F280V|PBRM1_ENST00000409767.1_Missense_Mutation_p.F280V|PBRM1_ENST00000410007.1_Missense_Mutation_p.F280V|PBRM1_ENST00000409057.1_Missense_Mutation_p.F280V			Q86U86	PB1_HUMAN	polybromo 1	280					chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		TTCatataaaatattttttta	0.358			"Mis, N, F, S, D, O"		"clear cell renal carcinoma, breast"								6	7					0	0	1	0	0	C	52678781	A	C	52678781	3	2	81	1	0	0	0	0	1	0	0	0	11538	101	4	4	4154	4	PBRM1	3	52678781	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	10022	52678781	145343649	3051	6667											
GNL3	26354	broad.mit.edu	37	3	52724667	52724667	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:52724667A>G	ENST00000394799.2	+	7	775	c.565A>G	c.(565-567)Aca>Gca	p.T189A	GNL3_ENST00000418458.1_Missense_Mutation_p.T201A	NM_206825.1	NP_996561.1	Q9BVP2	GNL3_HUMAN	guanine nucleotide binding protein-like 3 (nucleolar)	201					regulation of cell proliferation	nucleolus	GTP binding|protein binding			breast(4)|endometrium(3)|large_intestine(3)|lung(2)	12				BRCA - Breast invasive adenocarcinoma(193;6.75e-05)|Kidney(197;0.000611)|KIRC - Kidney renal clear cell carcinoma(197;0.000773)|OV - Ovarian serous cystadenocarcinoma(275;0.048)		AGAATTGCCAACAGTGGTGTT	0.388													11	275					0	0	1	0	0	G	52724667	A	G	52724667	3	3	81	1	0	0	0	0	1	0	0	0	6579	43	2	3	627	3	GNL3	3	52724667	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	45886	52724667	145297763	3052	6668											
GNL3	26354	broad.mit.edu	37	3	52724697	52724697	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:52724697A>C	ENST00000394799.2	+	7	805	c.595A>C	c.(595-597)Aag>Cag	p.K199Q	GNL3_ENST00000418458.1_Missense_Mutation_p.K211Q	NM_206825.1	NP_996561.1	Q9BVP2	GNL3_HUMAN	guanine nucleotide binding protein-like 3 (nucleolar)	211					regulation of cell proliferation	nucleolus	GTP binding|protein binding			breast(4)|endometrium(3)|large_intestine(3)|lung(2)	12				BRCA - Breast invasive adenocarcinoma(193;6.75e-05)|Kidney(197;0.000611)|KIRC - Kidney renal clear cell carcinoma(197;0.000773)|OV - Ovarian serous cystadenocarcinoma(275;0.048)		AACAAAACCAAAGGATAAAGG	0.353													20	193					0	0	1	0	0	C	52724697	A	C	52724697	3	2	81	1	0	0	0	0	1	0	0	0	6579	15	1	5	657	5	GNL3	3	52724697	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	30	52724697	145297733	3053	6669											
ITIH1	3697	broad.mit.edu	37	3	52811745	52811745	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:52811745C>T	ENST00000273283.2	+	1	138	c.114C>T	c.(112-114)agC>agT	p.S38S	ITIH1_ENST00000542827.1_Silent_p.S38S	NM_002215.3	NP_002206.2	P19827	ITIH1_HUMAN	inter-alpha-trypsin inhibitor heavy chain 1	38	VIT.				hyaluronan metabolic process|leukocyte activation	extracellular region	calcium ion binding|serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	52				BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)		CCAAGAGCAGCGAGGTATATG	0.632													4	28					0	0	1	0	0	T	52811745	C	T	52811745	2	4	81	1	0	0	0	0	0	0	0	1	7947	767	27	1		1	ITIH1	3	52811745	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	87048	52811745	145210685	3054	6670											
ITIH1	3697	broad.mit.edu	37	3	52812378	52812378	+	Missense_Mutation	SNP	G	G	A	rs150656991	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:52812378G>A	ENST00000273283.2	+	3	185	c.161G>A	c.(160-162)cGg>cAg	p.R54Q	ITIH1_ENST00000542827.1_Missense_Mutation_p.R54Q	NM_002215.3	NP_002206.2	P19827	ITIH1_HUMAN	inter-alpha-trypsin inhibitor heavy chain 1	54	VIT.			R -> A (in Ref. 7; AA sequence).	hyaluronan metabolic process|leukocyte activation	extracellular region	calcium ion binding|serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	52				BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)		GTGTTCATCCGGAGTTTGAAA	0.552													23	44					0	0	1	0	0	A	52812378	G	A	52812378	3	1	81	1	0	0	0	0	1	0	0	0	7947	1116	39	1	171	1	ITIH1	3	52812378	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	633	52812378	145210052	3055	6671											
ITIH3	3699	broad.mit.edu	37	3	52842605	52842605	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:52842605G>A	ENST00000449956.2	+	22	2587	c.2581G>A	c.(2581-2583)Ggc>Agc	p.G861S	ITIH3_ENST00000416872.2_Missense_Mutation_p.G669S	NM_002217.3	NP_002208.3	Q06033	ITIH3_HUMAN	inter-alpha-trypsin inhibitor heavy chain 3	861					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(6)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		TGCCAGCATCGGCACGAAGGT	0.532													3	38					0	0	1	0	0	A	52842605	G	A	52842605	3	1	81	1	0	0	0	0	1	0	0	0	7949	1116	39	1	2667	1	ITIH3	3	52842605	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	30227	52842605	145179825	3056	6672											
ITIH4	3700	broad.mit.edu	37	3	52860641	52860641	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:52860641C>A	ENST00000266041.4	-	5	642	c.546G>T	c.(544-546)caG>caT	p.Q182H	ITIH4_ENST00000485816.1_Missense_Mutation_p.Q182H|RP5-966M1.6_ENST00000468472.1_3'UTR|ITIH4_ENST00000346281.5_Missense_Mutation_p.Q182H|ITIH4_ENST00000434759.3_Missense_Mutation_p.Q94H|ITIH4_ENST00000406595.1_Missense_Mutation_p.Q182H	NM_002218.4	NP_002209.2	Q14624	ITIH4_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 4	182					acute-phase response|hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		AGCTGATGCCCTGGGGCTCGA	0.587													24	23					9.57634e-11	1.17731e-10	1	1	0	A	52860641	C	A	52860641	3	1	81	1	0	0	0	0	1	0	0	0	7950	680	24	4	2326	4	ITIH4	3	52860641	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	18036	52860641	145161789	3057	6673											
SFMBT1	51460	broad.mit.edu	37	3	52941704	52941704	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:52941704G>T	ENST00000394752.3	-	18	2334	c.1952C>A	c.(1951-1953)cCt>cAt	p.P651H	SFMBT1_ENST00000296295.6_Missense_Mutation_p.P651H|SFMBT1_ENST00000358080.2_Missense_Mutation_p.P651H|SFMBT1_ENST00000394750.1_Missense_Mutation_p.P651H	NM_016329.3	NP_057413.2	Q9UHJ3	SMBT1_HUMAN	Scm-like with four mbt domains 1	651					regulation of transcription, DNA-dependent	nucleus				breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	24				BRCA - Breast invasive adenocarcinoma(193;9.91e-05)|Kidney(197;0.000644)|KIRC - Kidney renal clear cell carcinoma(197;0.000792)|OV - Ovarian serous cystadenocarcinoma(275;0.113)		ATGCCCACCAGGTGGCCTCCC	0.388													9	61					1.12685e-05	1.27052e-05	1	1	0	T	52941704	G	T	52941704	3	4	81	1	0	0	0	0	1	0	0	0	14211	1000	35	4	664	4	SFMBT1	3	52941704	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	81063	52941704	145080726	3058	6674											
SFMBT1	51460	broad.mit.edu	37	3	52946575	52946575	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:52946575C>T	ENST00000394752.3	-	16	2091	c.1709G>A	c.(1708-1710)tGt>tAt	p.C570Y	SFMBT1_ENST00000296295.6_Missense_Mutation_p.C570Y|SFMBT1_ENST00000358080.2_Missense_Mutation_p.C570Y|SFMBT1_ENST00000394750.1_Missense_Mutation_p.C570Y	NM_016329.3	NP_057413.2	Q9UHJ3	SMBT1_HUMAN	Scm-like with four mbt domains 1	570					regulation of transcription, DNA-dependent	nucleus				breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	24				BRCA - Breast invasive adenocarcinoma(193;9.91e-05)|Kidney(197;0.000644)|KIRC - Kidney renal clear cell carcinoma(197;0.000792)|OV - Ovarian serous cystadenocarcinoma(275;0.113)		GACTTCCCCACATCCGTGCCA	0.478													21	40					0	0	1	0	0	T	52946575	C	T	52946575	3	4	81	1	0	0	0	0	1	0	0	0	14211	478	17	2	915	2	SFMBT1	3	52946575	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	4871	52946575	145075855	3059	6675											
SFMBT1	51460	broad.mit.edu	37	3	52968829	52968829	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:52968829G>A	ENST00000394752.3	-	5	835	c.453C>T	c.(451-453)ggC>ggT	p.G151G	SFMBT1_ENST00000296295.6_Splice_Site_p.G151G|SFMBT1_ENST00000358080.2_Splice_Site_p.G151G|SFMBT1_ENST00000394750.1_Splice_Site_p.G151G	NM_016329.3	NP_057413.2	Q9UHJ3	SMBT1_HUMAN	Scm-like with four mbt domains 1	151					regulation of transcription, DNA-dependent	nucleus				breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	24				BRCA - Breast invasive adenocarcinoma(193;9.91e-05)|Kidney(197;0.000644)|KIRC - Kidney renal clear cell carcinoma(197;0.000792)|OV - Ovarian serous cystadenocarcinoma(275;0.113)		TAATACTCACGCCCTCTAGCA	0.443													17	17					0	0	1	0	0	A	52968829	G	A	52968829	5	1	81	1	0	0	0	0	0	0	1	0	14211	1101	38	1	2215	1	SFMBT1	3	52968829	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	22254	52968829	145053601	3060	6676											
TKT	7086	broad.mit.edu	37	3	53262328	53262328	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:53262328A>G	ENST00000462138.1	-	11	1531	c.1443T>C	c.(1441-1443)taT>taC	p.Y481Y	TKT_ENST00000461139.1_5'UTR|TKT_ENST00000423525.2_Silent_p.Y481Y|TKT_ENST00000296289.6_Silent_p.Y434Y|TKT_ENST00000423516.1_Silent_p.Y489Y			P29401	TKT_HUMAN	transketolase	481					energy reserve metabolic process|xylulose biosynthetic process	cytosol	protein binding|transketolase activity			endometrium(5)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17		Prostate(884;0.0959)		BRCA - Breast invasive adenocarcinoma(193;0.000159)|OV - Ovarian serous cystadenocarcinoma(275;0.000314)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)	Thiamine(DB00152)	CATTGTTGTTATAGATGATGG	0.557													20	28					0	0	1	0	0	G	53262328	A	G	53262328	2	3	81	1	0	0	0	0	0	0	0	1	15994	456	16	3		3	TKT	3	53262328	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	293499	53262328	144760102	3061	6677											
TKT	7086	broad.mit.edu	37	3	53274267	53274267	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:53274267C>A	ENST00000462138.1	-	4	525	c.437G>T	c.(436-438)aGc>aTc	p.S146I	TKT_ENST00000423525.2_Splice_Site_p.S146I|TKT_ENST00000296289.6_Splice_Site_p.S99I|TKT_ENST00000423516.1_Splice_Site_p.S146I			P29401	TKT_HUMAN	transketolase	146					energy reserve metabolic process|xylulose biosynthetic process	cytosol	protein binding|transketolase activity			endometrium(5)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17		Prostate(884;0.0959)		BRCA - Breast invasive adenocarcinoma(193;0.000159)|OV - Ovarian serous cystadenocarcinoma(275;0.000314)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)	Thiamine(DB00152)	GGTGTGTTACCTGGCCTTGTC	0.612													20	37					0.000958276	0.00102685	1	1	0	A	53274267	C	A	53274267	5	1	81	1	0	0	0	0	0	0	1	0	15994	695	24	4	1478	4	TKT	3	53274267	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	11939	53274267	144748163	3062	6678											
CACNA1D	776	broad.mit.edu	37	3	53756346	53756346	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:53756346G>A	ENST00000288139.4	+	13	1689	c.1571G>A	c.(1570-1572)cGc>cAc	p.R524H	CACNA1D_ENST00000350061.5_Missense_Mutation_p.R504H|CACNA1D_ENST00000422281.2_Missense_Mutation_p.R504H	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit						axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	TTTAGCCGACGCTGGCGTCGC	0.458													17	30					0	0	1	0	0	A	53756346	G	A	53756346	3	1	81	1	0	0	0	0	1	0	0	0	2559	1087	38	1	1729	1	CACNA1D	3	53756346	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	482079	53756346	144266084	3063	6679											
CACNA1D	776	broad.mit.edu	37	3	53835325	53835325	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:53835325G>A	ENST00000288139.4	+	43	5459	c.5341G>A	c.(5341-5343)Gcc>Acc	p.A1781T	CACNA1D_ENST00000350061.5_Missense_Mutation_p.A1761T|CACNA1D_ENST00000422281.2_Missense_Mutation_p.A1746T|CACNA1D_ENST00000544977.1_Missense_Mutation_p.A140T	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit						axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	TCTCAATAATGCCAATATGTC	0.468													20	30					0	0	1	0	0	A	53835325	G	A	53835325	3	1	81	1	0	0	0	0	1	0	0	0	2559	1319	46	2	5619	2	CACNA1D	3	53835325	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	78979	53835325	144187105	3064	6680											
CACNA1D	776	broad.mit.edu	37	3	53839116	53839116	+	Missense_Mutation	SNP	G	G	A	rs142184099	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:53839116G>A	ENST00000288139.4	+	46	5870	c.5752G>A	c.(5752-5754)Gtt>Att	p.V1918I	CACNA1D_ENST00000350061.5_Missense_Mutation_p.V1898I|CACNA1D_ENST00000422281.2_Missense_Mutation_p.V1874I|CACNA1D_ENST00000544977.1_Missense_Mutation_p.V277I	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit						axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	TGACTCGCCCGTTTGCTATGA	0.547													35	50					0	0	1	0	0	A	53839116	G	A	53839116	3	1	81	1	0	0	0	0	1	0	0	0	2559	1145	40	1	6042	1	CACNA1D	3	53839116	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	3791	53839116	144183314	3065	6681											
CACNA1D	776	broad.mit.edu	37	3	53844311	53844311	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:53844311A>G	ENST00000288139.4	+	48	6356	c.6238A>G	c.(6238-6240)Agc>Ggc	p.S2080G	CACNA1D_ENST00000350061.5_Missense_Mutation_p.S2060G|CACNA1D_ENST00000422281.2_Missense_Mutation_p.S2036G|CACNA1D_ENST00000544977.1_3'UTR	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit						axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	GAGTGCGGACAGCTTGGTGGA	0.597													4	54					0	0	1	0	0	G	53844311	A	G	53844311	3	3	81	1	0	0	0	0	1	0	0	0	2559	188	7	3	6536	3	CACNA1D	3	53844311	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	5195	53844311	144178119	3066	6682											
CACNA1D	776	broad.mit.edu	37	3	53845162	53845162	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:53845162G>A	ENST00000288139.4	+	49	6393	c.6275G>A	c.(6274-6276)gGa>gAa	p.G2092E	CACNA1D_ENST00000350061.5_Missense_Mutation_p.G2072E|CACNA1D_ENST00000422281.2_Missense_Mutation_p.G2048E|CACNA1D_ENST00000544977.1_3'UTR	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit						axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	GAAGGCTTGGGACGCTATGCA	0.517													21	41					0	0	1	0	0	A	53845162	G	A	53845162	3	1	81	1	0	0	0	0	1	0	0	0	2559	1174	41	2	6577	2	CACNA1D	3	53845162	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	851	53845162	144177268	3067	6683											
IL17RB	55540	broad.mit.edu	37	3	53890892	53890892	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:53890892T>C	ENST00000288167.3	+	7	560	c.551T>C	c.(550-552)aTc>aCc	p.I184T		NM_018725.3	NP_061195.2	Q9NRM6	I17RB_HUMAN	interleukin 17 receptor B	184					defense response|regulation of cell growth	extracellular region|integral to plasma membrane	cytokine receptor activity			breast(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118)		GATCCGAACATCACTGCTTGT	0.453													4	86					0	0	1	0	0	C	53890892	T	C	53890892	3	2	81	1	0	0	0	0	1	0	0	0	7684	1435	50	3	577	3	IL17RB	3	53890892	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	45730	53890892	144131538	3068	6684											
ACTR8	93973	broad.mit.edu	37	3	53911754	53911754	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:53911754G>A	ENST00000335754.3	-	4	530	c.430C>T	c.(430-432)Cga>Tga	p.R144*	ACTR8_ENST00000482349.1_Nonsense_Mutation_p.R33*	NM_022899.4	NP_075050.3	Q9H981	ARP8_HUMAN	ARP8 actin-related protein 8 homolog (yeast)	144					cell division|DNA recombination|DNA repair|mitosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex	protein binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.000143)|KIRC - Kidney renal clear cell carcinoma(284;0.00544)|Kidney(284;0.00607)|OV - Ovarian serous cystadenocarcinoma(275;0.111)		ATTGCAGGTCGCATCTGCTTA	0.398													30	36					0	0	1	0	0	A	53911754	G	A	53911754	4	1	81	1	0	0	0	0	0	1	0	0	216	1095	38	1	1484	1	ACTR8	3	53911754	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	20862	53911754	144110676	3069	6685											
ERC2	26059	broad.mit.edu	37	3	56114999	56114999	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:56114999C>A	ENST00000288221.6	-	7	1742	c.1487G>T	c.(1486-1488)aGa>aTa	p.R496I		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	496						cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		CAGTCGTAATCTCAGCGCATC	0.438													9	16					5.16669e-11	6.3748e-11	1	1	0	A	56114999	C	A	56114999	3	1	81	1	0	0	0	0	1	0	0	0	5239	913	32	4	1420	4	ERC2	3	56114999	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2203245	56114999	141907431	3070	6686											
ERC2	26059	broad.mit.edu	37	3	56183009	56183009	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:56183009G>A	ENST00000288221.6	-	5	1556	c.1301C>T	c.(1300-1302)aCc>aTc	p.T434I		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	434						cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		CCGTACCTTGGTCTTCATAAA	0.358													41	55					0	0	1	0	0	A	56183009	G	A	56183009	3	1	81	1	0	0	0	0	1	0	0	0	5239	1261	44	2	1614	2	ERC2	3	56183009	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	68010	56183009	141839421	3071	6687											
CCDC66	285331	broad.mit.edu	37	3	56601046	56601046	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:56601046T>C	ENST00000394672.3	+	6	849	c.779T>C	c.(778-780)tTg>tCg	p.L260S	CCDC66_ENST00000538560.1_Missense_Mutation_p.L260S|CCDC66_ENST00000436465.2_Missense_Mutation_p.L260S|CCDC66_ENST00000442522.2_3'UTR|CCDC66_ENST00000326595.7_Missense_Mutation_p.L226S	NM_001012506.4|NM_001141947.1	NP_001012524.4|NP_001135419.1	A2RUB6	CCD66_HUMAN	coiled-coil domain containing 66	260										breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(2)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(284;0.0478)|Kidney(284;0.0597)|OV - Ovarian serous cystadenocarcinoma(275;0.233)		AGAAGTTCGTTGGAAGCAAAA	0.373													17	98					0	0	1	0	0	C	56601046	T	C	56601046	3	2	81	1	0	0	0	0	1	0	0	0	2858	1821	63	3	801	3	CCDC66	3	56601046	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	418037	56601046	141421384	3072	6688											
CCDC66	285331	broad.mit.edu	37	3	56651180	56651180	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:56651180T>A	ENST00000394672.3	+	14	1954	c.1884T>A	c.(1882-1884)caT>caA	p.H628Q	CCDC66_ENST00000326595.7_Missense_Mutation_p.H594Q|CCDC66_ENST00000436465.2_Missense_Mutation_p.H628Q	NM_001012506.4|NM_001141947.1	NP_001012524.4|NP_001135419.1	A2RUB6	CCD66_HUMAN	coiled-coil domain containing 66	628										breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(2)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(284;0.0478)|Kidney(284;0.0597)|OV - Ovarian serous cystadenocarcinoma(275;0.233)		CAGAATCACATTGTGGATCAT	0.299													14	30					0	0	1	0	0	A	56651180	T	A	56651180	3	1	81	1	0	0	0	0	1	0	0	0	2858	1490	52	4	1938	4	CCDC66	3	56651180	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	50134	56651180	141371250	3073	6689											
SPATA12	353324	broad.mit.edu	37	3	57107737	57107737	+	Silent	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:57107737T>A	ENST00000334325.1	+	2	690	c.15T>A	c.(13-15)gcT>gcA	p.A5A	ARHGEF3_ENST00000338458.4_Intron	NM_181727.1	NP_859078.1	Q7Z6I5	SPT12_HUMAN	spermatogenesis associated 12	5										large_intestine(2)|lung(1)	3				KIRC - Kidney renal clear cell carcinoma(284;0.0111)|Kidney(284;0.0129)		CCAGTTCTGCTCTGACTTGTG	0.547													4	40					0	0	1	0	0	A	57107737	T	A	57107737	2	1	81	1	0	0	0	0	0	0	0	1	15055	1538	54	5		5	SPATA12	3	57107737	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	456557	57107737	140914693	3074	6690											
IL17RD	54756	broad.mit.edu	37	3	57132155	57132155	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:57132155G>A	ENST00000296318.7	-	12	1664	c.1576C>T	c.(1576-1578)Cga>Tga	p.R526*	IL17RD_ENST00000427856.2_Nonsense_Mutation_p.R502*|IL17RD_ENST00000320057.5_Nonsense_Mutation_p.R382*|IL17RD_ENST00000463523.1_Nonsense_Mutation_p.R382*	NM_017563.3	NP_060033.3	Q8NFM7	I17RD_HUMAN	interleukin 17 receptor D	526						Golgi membrane|integral to membrane|plasma membrane	receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(1)|ovary(1)|pancreas(1)	16				KIRC - Kidney renal clear cell carcinoma(284;0.0173)|Kidney(284;0.0204)		CTGCCCTGTCGCGTGTGCTGC	0.577													16	18					0	0	1	0	0	A	57132155	G	A	57132155	4	1	81	1	0	0	0	0	0	1	0	0	7686	1095	38	1	651	1	IL17RD	3	57132155	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	24418	57132155	140890275	3075	6691											
IL17RD	54756	broad.mit.edu	37	3	57143645	57143645	+	Missense_Mutation	SNP	G	G	A	rs140018512	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:57143645G>A	ENST00000296318.7	-	5	558	c.470C>T	c.(469-471)aCg>aTg	p.T157M	IL17RD_ENST00000427856.2_Missense_Mutation_p.T133M|IL17RD_ENST00000320057.5_Missense_Mutation_p.T13M|IL17RD_ENST00000463523.1_Missense_Mutation_p.T13M	NM_017563.3	NP_060033.3	Q8NFM7	I17RD_HUMAN	interleukin 17 receptor D	157						Golgi membrane|integral to membrane|plasma membrane	receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(1)|ovary(1)|pancreas(1)	16				KIRC - Kidney renal clear cell carcinoma(284;0.0173)|Kidney(284;0.0204)		GAAATAATCCGTTTCAAATTT	0.408													25	46					0	0	1	0	0	A	57143645	G	A	57143645	3	1	81	1	0	0	0	0	1	0	0	0	7686	1145	40	1	1785	1	IL17RD	3	57143645	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	11490	57143645	140878785	3076	6692											
IL17RD	54756	broad.mit.edu	37	3	57203355	57203355	+	Translation_Start_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:57203355C>A	ENST00000320057.5	-	0	141							Q8NFM7	I17RD_HUMAN	interleukin 17 receptor D							Golgi membrane|integral to membrane|plasma membrane	receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(1)|ovary(1)|pancreas(1)	16				KIRC - Kidney renal clear cell carcinoma(284;0.0173)|Kidney(284;0.0204)		GCCCCCATGCCTAGCACTCTG	0.517													5	3					0.184627	0.18622	1	1	0	A	57203355	C	A	57203355	1	1	81	1	0	0	0	0	0	0	0	0	7686	696	24	4		4	IL17RD	3	57203355	Translation_Start_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	59710	57203355	140819075	3077	6693											
APPL1	26060	broad.mit.edu	37	3	57274504	57274504	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:57274504T>C	ENST00000288266.3	+	5	444	c.297T>C	c.(295-297)tgT>tgC	p.C99C		NM_012096.2	NP_036228.1	Q9UKG1	DP13A_HUMAN	adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1	99	Required for RAB5A binding.				apoptosis|cell cycle|cell proliferation|insulin receptor signaling pathway|regulation of apoptosis|regulation of establishment of protein localization in plasma membrane|regulation of glucose import	cytosol|early endosome membrane|microsome|nucleus|vesicle membrane	protein kinase B binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(10)|liver(2)|lung(4)|prostate(2)	27				KIRC - Kidney renal clear cell carcinoma(284;0.0124)|Kidney(284;0.0144)		TTAGCTCTTGTCATGCAGTGC	0.343													42	53					0	0	1	0	0	C	57274504	T	C	57274504	2	2	81	1	0	0	0	0	0	0	0	1	814	1673	58	3		3	APPL1	3	57274504	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	71149	57274504	140747926	3078	6694											
APPL1	26060	broad.mit.edu	37	3	57276920	57276921	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:57276920_57276921insA	ENST00000288266.3	+	7	599_600	c.452_453insA	c.(451-456)tcaaaafs	p.SK151fs		NM_012096.2	NP_036228.1	Q9UKG1	DP13A_HUMAN	adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1	151	Required for RAB5A binding.				apoptosis|cell cycle|cell proliferation|insulin receptor signaling pathway|regulation of apoptosis|regulation of establishment of protein localization in plasma membrane|regulation of glucose import	cytosol|early endosome membrane|microsome|nucleus|vesicle membrane	protein kinase B binding	p.R154fs*6(1)		breast(3)|endometrium(3)|kidney(3)|large_intestine(10)|liver(2)|lung(4)|prostate(2)	27				KIRC - Kidney renal clear cell carcinoma(284;0.0124)|Kidney(284;0.0144)		AGCCGTTTATCAAAAAAAAGAG	0.297													20	49	---	---	---	---						A	57276921	-	A	57276920	7	5	81	1	0	1	1	0	0	0	0	0	814	838	29	0	478	0	APPL1	3	57276920	Frame_Shift_Ins	INS	-	TCGA-DU-6392-01A-11D-1705-08	2416	57276920	140745510	3079	6695											
APPL1	26060	broad.mit.edu	37	3	57293919	57293919	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:57293919G>T	ENST00000288266.3	+	17	1677	c.1530G>T	c.(1528-1530)atG>atT	p.M510I		NM_012096.2	NP_036228.1	Q9UKG1	DP13A_HUMAN	adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1	510	PID.				apoptosis|cell cycle|cell proliferation|insulin receptor signaling pathway|regulation of apoptosis|regulation of establishment of protein localization in plasma membrane|regulation of glucose import	cytosol|early endosome membrane|microsome|nucleus|vesicle membrane	protein kinase B binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(10)|liver(2)|lung(4)|prostate(2)	27				KIRC - Kidney renal clear cell carcinoma(284;0.0124)|Kidney(284;0.0144)		TTGGTTCAATGGAGGTGAAAT	0.348													5	35					2.0095e-06	2.30238e-06	1	1	0	T	57293919	G	T	57293919	3	4	81	1	0	0	0	0	1	0	0	0	814	1348	47	5	1596	5	APPL1	3	57293919	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	16999	57293919	140728511	3080	6696											
APPL1	26060	broad.mit.edu	37	3	57302429	57302429	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:57302429C>T	ENST00000288266.3	+	21	2044	c.1897C>T	c.(1897-1899)Cgt>Tgt	p.R633C	ASB14_ENST00000389601.3_3'UTR|ASB14_ENST00000487349.1_3'UTR	NM_012096.2	NP_036228.1	Q9UKG1	DP13A_HUMAN	adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1	633	PID.				apoptosis|cell cycle|cell proliferation|insulin receptor signaling pathway|regulation of apoptosis|regulation of establishment of protein localization in plasma membrane|regulation of glucose import	cytosol|early endosome membrane|microsome|nucleus|vesicle membrane	protein kinase B binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(10)|liver(2)|lung(4)|prostate(2)	27				KIRC - Kidney renal clear cell carcinoma(284;0.0124)|Kidney(284;0.0144)		TCTTTAGGATCGTAGGGCATC	0.269													5	8					0	0	1	0	0	T	57302429	C	T	57302429	3	4	81	1	0	0	0	0	1	0	0	0	814	884	31	1	1979	1	APPL1	3	57302429	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	8510	57302429	140720001	3081	6697											
APPL1	26060	broad.mit.edu	37	3	57303661	57303661	+	Silent	SNP	G	G	A	rs146152896		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:57303661G>A	ENST00000288266.3	+	22	2223	c.2076G>A	c.(2074-2076)caG>caA	p.Q692Q	ASB14_ENST00000389601.3_Intron|ASB14_ENST00000487349.1_Intron	NM_012096.2	NP_036228.1	Q9UKG1	DP13A_HUMAN	adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1	692					apoptosis|cell cycle|cell proliferation|insulin receptor signaling pathway|regulation of apoptosis|regulation of establishment of protein localization in plasma membrane|regulation of glucose import	cytosol|early endosome membrane|microsome|nucleus|vesicle membrane	protein kinase B binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(10)|liver(2)|lung(4)|prostate(2)	27				KIRC - Kidney renal clear cell carcinoma(284;0.0124)|Kidney(284;0.0144)		GCAGTAGCCAGTCAGAAGAGA	0.443													7	99					0	0	1	0	0	A	57303661	G	A	57303661	2	1	81	1	0	0	0	0	0	0	0	1	814	1020	36	2		2	APPL1	3	57303661	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1232	57303661	140718769	3082	6698											
APPL1	26060	broad.mit.edu	37	3	57303715	57303715	+	Nonstop_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:57303715A>C	ENST00000288266.3	+	22	2277	c.2130A>C	c.(2128-2130)taA>taC	p.*710Y	ASB14_ENST00000389601.3_Intron|ASB14_ENST00000487349.1_Intron	NM_012096.2	NP_036228.1	Q9UKG1	DP13A_HUMAN	adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1	0					apoptosis|cell cycle|cell proliferation|insulin receptor signaling pathway|regulation of apoptosis|regulation of establishment of protein localization in plasma membrane|regulation of glucose import	cytosol|early endosome membrane|microsome|nucleus|vesicle membrane	protein kinase B binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(10)|liver(2)|lung(4)|prostate(2)	27				KIRC - Kidney renal clear cell carcinoma(284;0.0124)|Kidney(284;0.0144)		CAGAAGCATAAGCTTATACTT	0.413													34	52					0	0	1	0	0	C	57303715	A	C	57303715	4	2	81	1	0	0	0	0	0	0	0	0	814	79	3	5	2216	5	APPL1	3	57303715	Nonstop_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	54	57303715	140718715	3083	6699											
PDE12	201626	broad.mit.edu	37	3	57542583	57542583	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:57542583C>T	ENST00000311180.8	+	1	580	c.477C>T	c.(475-477)cgC>cgT	p.R159R	PDE12_ENST00000487257.1_Silent_p.R159R	NM_177966.5	NP_808881.3	Q6L8Q7	PDE12_HUMAN	phosphodiesterase 12	159							hydrolase activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(4)|lung(3)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20				KIRC - Kidney renal clear cell carcinoma(284;0.011)|Kidney(284;0.0127)		AGGTGGAGCGCAACCCGCCCG	0.622													11	18					0	0	1	0	0	T	57542583	C	T	57542583	2	4	81	1	0	0	0	0	0	0	0	1	11679	697	25	2		2	PDE12	3	57542583	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	238868	57542583	140479847	3084	6700											
SLMAP	7871	broad.mit.edu	37	3	57850573	57850573	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:57850573G>A	ENST00000383718.3	+	11	1273	c.1175G>A	c.(1174-1176)tGc>tAc	p.C392Y	SLMAP_ENST00000295952.3_Intron|SLMAP_ENST00000416870.1_Intron|SLMAP_ENST00000295951.3_Intron|SLMAP_ENST00000449503.2_Intron|SLMAP_ENST00000428312.1_Missense_Mutation_p.C392Y			Q14BN4	SLMAP_HUMAN	sarcolemma associated protein	392					muscle contraction|protein folding	integral to plasma membrane|microtubule organizing center|prefoldin complex|sarcolemma|smooth endoplasmic reticulum	unfolded protein binding			endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(2)	18				BRCA - Breast invasive adenocarcinoma(55;0.000271)|KIRC - Kidney renal clear cell carcinoma(284;0.0602)|Kidney(284;0.0754)|OV - Ovarian serous cystadenocarcinoma(275;0.182)		CTTAAAGAATGCAGCAGCTTG	0.308													4	7					0	0	1	0	0	A	57850573	G	A	57850573	3	1	81	1	0	0	0	0	1	0	0	0	14803	1334	46	2		2	SLMAP	3	57850573	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	307990	57850573	140171857	3085	6701											
SLMAP	7871	broad.mit.edu	37	3	57894828	57894828	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:57894828C>A	ENST00000295951.3	+	17	2765	c.1548C>A	c.(1546-1548)gcC>gcA	p.A516A	SLMAP_ENST00000295952.3_Silent_p.A516A|SLMAP_ENST00000416870.1_Silent_p.A26A|SLMAP_ENST00000472546.1_Intron|SLMAP_ENST00000442599.2_Intron|SLMAP_ENST00000449503.2_Silent_p.A495A|SLMAP_ENST00000494088.1_Silent_p.A26A|SLMAP_ENST00000495364.1_Silent_p.A67A|SLMAP_ENST00000428312.1_Silent_p.A533A			Q14BN4	SLMAP_HUMAN	sarcolemma associated protein	533					muscle contraction|protein folding	integral to plasma membrane|microtubule organizing center|prefoldin complex|sarcolemma|smooth endoplasmic reticulum	unfolded protein binding			endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(2)	18				BRCA - Breast invasive adenocarcinoma(55;0.000271)|KIRC - Kidney renal clear cell carcinoma(284;0.0602)|Kidney(284;0.0754)|OV - Ovarian serous cystadenocarcinoma(275;0.182)		AAAGAAAAGCCTATCGAAATC	0.333													5	76					0.184627	0.18622	1	1	0	A	57894828	C	A	57894828	2	1	81	1	0	0	0	0	0	0	0	1	14803	668	24	4		4	SLMAP	3	57894828	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	44255	57894828	140127602	3086	6702											
FLNB	2317	broad.mit.edu	37	3	58080562	58080562	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:58080562G>T	ENST00000357272.4	+	5	952		c.e5-1		FLNB_ENST00000419752.2_Splice_Site|FLNB_ENST00000493452.1_Splice_Site|FLNB_ENST00000429972.2_Splice_Site|FLNB_ENST00000358537.3_Splice_Site|FLNB_ENST00000490882.1_Splice_Site|FLNB_ENST00000348383.5_Splice_Site|FLNB_ENST00000295956.4_Splice_Site			O75369	FLNB_HUMAN	filamin B, beta						actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		ACCTGTGGCAGGAATCGAGCC	0.562													15	175					1.49906e-05	1.6816e-05	1	1	0	T	58080562	G	T	58080562	5	4	81	1	0	0	0	0	0	0	1	0	5967	1014	35	4	805	4	FLNB	3	58080562	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	185734	58080562	139941868	3087	6703											
FLNB	2317	broad.mit.edu	37	3	58097997	58097997	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:58097997C>T	ENST00000357272.4	+	18	2862	c.2697C>T	c.(2695-2697)atC>atT	p.I899I	FLNB_ENST00000419752.2_Silent_p.I730I|FLNB_ENST00000493452.1_Silent_p.I730I|FLNB_ENST00000429972.2_Silent_p.I899I|FLNB_ENST00000358537.3_Silent_p.I899I|FLNB_ENST00000490882.1_Silent_p.I899I|FLNB_ENST00000348383.5_Silent_p.I899I|FLNB_ENST00000295956.4_Silent_p.I899I			O75369	FLNB_HUMAN	filamin B, beta	899					actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		TGGATATCATCGATAATTATG	0.547													34	57					0	0	1	0	0	T	58097997	C	T	58097997	2	4	81	1	0	0	0	0	0	0	0	1	5967	874	31	1		1	FLNB	3	58097997	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	17435	58097997	139924433	3088	6704											
FLNB	2317	broad.mit.edu	37	3	58132695	58132695	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:58132695C>T	ENST00000357272.4	+	34	5868	c.5703C>T	c.(5701-5703)ggC>ggT	p.G1901G	FLNB_ENST00000419752.2_Silent_p.G1721G|FLNB_ENST00000493452.1_Silent_p.G1708G|FLNB_ENST00000429972.2_Silent_p.G1890G|FLNB_ENST00000358537.3_Silent_p.G1877G|FLNB_ENST00000490882.1_Silent_p.G1932G|FLNB_ENST00000348383.5_Silent_p.G1901G|FLNB_ENST00000295956.4_Silent_p.G1901G			O75369	FLNB_HUMAN	filamin B, beta	1901	Interaction with the cytoplasmic tail of GP1BA.				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		ACATCCCTGGCAGCCCCTTCA	0.542													5	33					0	0	1	0	0	T	58132695	C	T	58132695	2	4	81	1	0	0	0	0	0	0	0	1	5967	697	25	2		2	FLNB	3	58132695	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	34698	58132695	139889735	3089	6705											
FLNB	2317	broad.mit.edu	37	3	58134478	58134478	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:58134478C>T	ENST00000357272.4	+	36	6155	c.5990C>T	c.(5989-5991)tCg>tTg	p.S1997L	FLNB_ENST00000419752.2_Missense_Mutation_p.S1817L|FLNB_ENST00000493452.1_Missense_Mutation_p.S1804L|FLNB_ENST00000429972.2_Missense_Mutation_p.S1986L|FLNB_ENST00000358537.3_Missense_Mutation_p.S1973L|FLNB_ENST00000490882.1_Missense_Mutation_p.S2028L|FLNB_ENST00000348383.5_Missense_Mutation_p.S1997L|FLNB_ENST00000295956.4_Missense_Mutation_p.S1997L			O75369	FLNB_HUMAN	filamin B, beta	1997	Interaction with the cytoplasmic tail of GP1BA.				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		GTGGTCCAGTCGGAGATTGGT	0.567													21	31					0	0	1	0	0	T	58134478	C	T	58134478	3	4	81	1	0	0	0	0	1	0	0	0	5967	893	31	1	6229	1	FLNB	3	58134478	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1783	58134478	139887952	3090	6706											
FLNB	2317	broad.mit.edu	37	3	58135653	58135653	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:58135653C>A	ENST00000357272.4	+	37	6333	c.6168C>A	c.(6166-6168)acC>acA	p.T2056T	FLNB_ENST00000419752.2_Silent_p.T1876T|FLNB_ENST00000493452.1_Silent_p.T1863T|FLNB_ENST00000429972.2_Silent_p.T2045T|FLNB_ENST00000358537.3_Silent_p.T2032T|FLNB_ENST00000490882.1_Silent_p.T2087T|FLNB_ENST00000348383.5_Silent_p.T2056T|FLNB_ENST00000295956.4_Silent_p.T2056T			O75369	FLNB_HUMAN	filamin B, beta	2056	Interaction with the cytoplasmic tail of GP1BA.				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		AAGATGGCACCTGCAAAGTCT	0.567													7	154					0.000157383	0.000171784	1	1	0	A	58135653	C	A	58135653	2	1	81	1	0	0	0	0	0	0	0	1	5967	668	24	4		4	FLNB	3	58135653	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1175	58135653	139886777	3091	6707											
FLNB	2317	broad.mit.edu	37	3	58139357	58139357	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:58139357C>T	ENST00000295956.4	+	39	6788	c.6623C>T	c.(6622-6624)gCg>gTg	p.A2208V	FLNB_ENST00000419752.2_Missense_Mutation_p.A2028V|FLNB_ENST00000493452.1_Missense_Mutation_p.A2015V|FLNB_ENST00000429972.2_Missense_Mutation_p.A2197V|FLNB_ENST00000358537.3_Missense_Mutation_p.A2184V|FLNB_ENST00000490882.1_Missense_Mutation_p.A2239V|FLNB_ENST00000348383.5_Missense_Mutation_p.A2167V|FLNB_ENST00000357272.4_3'UTR	NM_001457.3	NP_001448.2	O75369	FLNB_HUMAN	filamin B, beta	2208	Interaction with FLNA 1.|Interaction with INPPL1.				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding	p.A2239V(1)|p.A2208V(1)		NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		AGAGGAGAAGCGGGAGTCCCA	0.607													8	15					0	0	1	0	0	T	58139357	C	T	58139357	3	4	81	1	0	0	0	0	1	0	0	0	5967	768	27	1	6874	1	FLNB	3	58139357	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3704	58139357	139883073	3092	6708											
DNASE1L3	1776	broad.mit.edu	37	3	58179141	58179141	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:58179141C>T	ENST00000483681.1	-	9	1311	c.730G>A	c.(730-732)Gtc>Atc	p.V244I	DNASE1L3_ENST00000318316.3_Missense_Mutation_p.V244I|DNASE1L3_ENST00000394549.2_Missense_Mutation_p.V244I|DNASE1L3_ENST00000486455.1_Missense_Mutation_p.V214I			Q13609	DNSL3_HUMAN	deoxyribonuclease I-like 3	244					apoptosis|DNA catabolic process	nucleus	calcium ion binding|DNA binding|endodeoxyribonuclease activity, producing 5'-phosphomonoesters			breast(2)|large_intestine(4)|lung(6)	12				BRCA - Breast invasive adenocarcinoma(55;0.00021)|KIRC - Kidney renal clear cell carcinoma(284;0.0445)|Kidney(284;0.0556)|OV - Ovarian serous cystadenocarcinoma(275;0.202)		ACAGAACTGACGATTTCTTGT	0.438													23	33					0	0	1	0	0	T	58179141	C	T	58179141	3	4	81	1	0	0	0	0	1	0	0	0	4690	536	19	1	195	1	DNASE1L3	3	58179141	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	39784	58179141	139843289	3093	6709											
ACOX2	8309	broad.mit.edu	37	3	58510329	58510329	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:58510329G>T	ENST00000302819.5	-	11	1641	c.1350C>A	c.(1348-1350)ttC>ttA	p.F450L	ACOX2_ENST00000459701.2_Missense_Mutation_p.F436L	NM_003500.3	NP_003491.1	Q99424	ACOX2_HUMAN	acyl-CoA oxidase 2, branched chain	450					bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	3alpha,7alpha,12alpha-trihydroxy-5beta-cholestanoyl-CoA 24-hydroxylase activity|acyl-CoA dehydrogenase activity|pristanoyl-CoA oxidase activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(3)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(55;0.000194)|Kidney(10;0.00255)|KIRC - Kidney renal clear cell carcinoma(10;0.00268)|OV - Ovarian serous cystadenocarcinoma(275;0.156)		TCTTCACCAGGAACCTGGGGG	0.592													16	19					1.5739e-10	1.93127e-10	1	1	0	T	58510329	G	T	58510329	3	4	81	1	0	0	0	0	1	0	0	0	159	1165	41	5	715	5	ACOX2	3	58510329	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	331188	58510329	139512101	3094	6710											
ACOX2	8309	broad.mit.edu	37	3	58519234	58519234	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:58519234G>A	ENST00000302819.5	-	5	812	c.521C>T	c.(520-522)gCc>gTc	p.A174V	ACOX2_ENST00000459701.2_Missense_Mutation_p.A174V	NM_003500.3	NP_003491.1	Q99424	ACOX2_HUMAN	acyl-CoA oxidase 2, branched chain	174					bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	3alpha,7alpha,12alpha-trihydroxy-5beta-cholestanoyl-CoA 24-hydroxylase activity|acyl-CoA dehydrogenase activity|pristanoyl-CoA oxidase activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(3)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(55;0.000194)|Kidney(10;0.00255)|KIRC - Kidney renal clear cell carcinoma(10;0.00268)|OV - Ovarian serous cystadenocarcinoma(275;0.156)		CTCCTGGGTGGCTGCGTCATA	0.547											OREG0015638	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	42	60					0	0	1	0	0	A	58519234	G	A	58519234	3	1	81	1	0	0	0	0	1	0	0	0	159	1203	42	2	1568	2	ACOX2	3	58519234	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	8905	58519234	139503196	3095	6711											
C3orf67	200844	broad.mit.edu	37	3	58856000	58856000	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:58856000T>G	ENST00000472469.1	-	7	974	c.136A>C	c.(136-138)Aac>Cac	p.N46H	C3orf67_ENST00000295966.7_Missense_Mutation_p.N126H|RP11-147N17.1_ENST00000482372.1_RNA|RP11-147N17.1_ENST00000493123.1_RNA|RP11-147N17.1_ENST00000492031.1_RNA|RP11-147N17.1_ENST00000463703.1_RNA|C3orf67_ENST00000482387.1_Missense_Mutation_p.N126H			Q6ZVT6	CC067_HUMAN	chromosome 3 open reading frame 67	126										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(3)|prostate(2)|skin(1)	19		all_cancers(2;0.000156)|all_epithelial(2;0.000493)|Breast(2;0.00446)|all_lung(2;0.074)|Lung NSC(2;0.248)		BRCA - Breast invasive adenocarcinoma(55;5.93e-06)|Kidney(10;0.00155)|KIRC - Kidney renal clear cell carcinoma(10;0.00172)|OV - Ovarian serous cystadenocarcinoma(275;0.23)		TTTTTACTGTTCCGTGTAATA	0.383													4	51					0	0	1	0	0	G	58856000	T	G	58856000	3	3	81	1	0	0	0	0	1	0	0	0	2255	1783	62	5	1351	5	C3orf67	3	58856000	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	336766	58856000	139166430	3096	6712											
PTPRG	5793	broad.mit.edu	37	3	62063840	62063840	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:62063840C>T	ENST00000474889.1	+	5	900	c.523C>T	c.(523-525)Cag>Tag	p.Q175*	PTPRG_ENST00000295874.10_Nonsense_Mutation_p.Q175*	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	175	Alpha-carbonic anhydrase.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	identical protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		CTTACAGATGCAGATTTTCTT	0.303													13	20					0	0	1	0	0	T	62063840	C	T	62063840	4	4	81	1	0	0	0	0	0	1	0	0	12854	711	25	2	541	2	PTPRG	3	62063840	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3207840	62063840	135958590	3097	6713											
PTPRG	5793	broad.mit.edu	37	3	62254828	62254828	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:62254828A>G	ENST00000474889.1	+	20	3370	c.2993A>G	c.(2992-2994)aAt>aGt	p.N998S	PTPRG-AS1_ENST00000475371.1_RNA|PTPRG_ENST00000295874.10_Missense_Mutation_p.N969S|PTPRG-AS1_ENST00000474795.1_RNA|PTPRG-AS1_ENST00000479018.1_RNA|PTPRG-AS1_ENST00000462497.1_RNA|PTPRG-AS1_ENST00000495542.1_RNA	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	998	Tyrosine-protein phosphatase 1.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	identical protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		TCAATCAGAAATACAAAAGTG	0.403													25	64					0	0	1	0	0	G	62254828	A	G	62254828	3	3	81	1	0	0	0	0	1	0	0	0	12854	101	4	3	3071	3	PTPRG	3	62254828	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	190988	62254828	135767602	3098	6714											
CADPS	8618	broad.mit.edu	37	3	62385182	62385182	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:62385182G>A	ENST00000383710.4	-	30	4310	c.3961C>T	c.(3961-3963)Cgt>Tgt	p.R1321C	CADPS_ENST00000357948.3_Missense_Mutation_p.R1242C|CADPS_ENST00000283269.9_Missense_Mutation_p.R1282C	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	1321	Mediates targeting and association with DCVs (By similarity).				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		ACAGTGAGACGGTTCCGGATC	0.498													42	71					0	0	1	0	0	A	62385182	G	A	62385182	3	1	81	1	0	0	0	0	1	0	0	0	2588	1116	39	1	104	1	CADPS	3	62385182	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	130354	62385182	135637248	3099	6715											
CADPS	8618	broad.mit.edu	37	3	62385245	62385245	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:62385245A>G	ENST00000383710.4	-	30	4247	c.3898T>C	c.(3898-3900)Ttc>Ctc	p.F1300L	CADPS_ENST00000357948.3_Missense_Mutation_p.F1221L|CADPS_ENST00000283269.9_Missense_Mutation_p.F1261L	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	1300	Mediates targeting and association with DCVs (By similarity).				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		TGCAATCGGAAATCTCTGTAG	0.488													32	45					0	0	1	0	0	G	62385245	A	G	62385245	3	3	81	1	0	0	0	0	1	0	0	0	2588	14	1	3	167	3	CADPS	3	62385245	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	63	62385245	135637185	3100	6716											
CADPS	8618	broad.mit.edu	37	3	62452065	62452065	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:62452065G>A	ENST00000383710.4	-	25	3850	c.3501C>T	c.(3499-3501)gaC>gaT	p.D1167D	CADPS_ENST00000357948.3_Silent_p.D1088D|CADPS_ENST00000283269.9_Silent_p.D1128D|CADPS_ENST00000462768.1_5'UTR	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	1167					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		CAATTAGTTCGTCTATTTTTG	0.363													5	16					0	0	1	0	0	A	62452065	G	A	62452065	2	1	81	1	0	0	0	0	0	0	0	1	2588	1136	40	1		1	CADPS	3	62452065	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	66820	62452065	135570365	3101	6717											
CADPS	8618	broad.mit.edu	37	3	62484908	62484908	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:62484908G>A	ENST00000383710.4	-	18	2984	c.2635C>T	c.(2635-2637)Ctt>Ttt	p.L879F	CADPS_ENST00000357948.3_Missense_Mutation_p.L856F|CADPS_ENST00000283269.9_Missense_Mutation_p.L896F	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	879	Interaction with DRD2.				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		GTATCTTCAAGCTTTTTGGCA	0.428													21	25					0	0	1	0	0	A	62484908	G	A	62484908	3	1	81	1	0	0	0	0	1	0	0	0	2588	971	34	2	1478	2	CADPS	3	62484908	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	32843	62484908	135537522	3102	6718											
CADPS	8618	broad.mit.edu	37	3	62631505	62631505	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:62631505T>C	ENST00000383710.4	-	6	1566	c.1217A>G	c.(1216-1218)gAa>gGa	p.E406G	CADPS_ENST00000357948.3_Missense_Mutation_p.E406G|CADPS_ENST00000490353.2_Missense_Mutation_p.E406G|CADPS_ENST00000283269.9_Missense_Mutation_p.E406G	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	406	C2.				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		GCCTTGGACTTCCATAATTAC	0.468													7	77					0	0	1	0	0	C	62631505	T	C	62631505	3	2	81	1	0	0	0	0	1	0	0	0	2588	1783	62	3	3017	3	CADPS	3	62631505	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	146597	62631505	135390925	3103	6719											
CADPS	8618	broad.mit.edu	37	3	62751556	62751556	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:62751556C>A	ENST00000383710.4	-	2	894	c.545G>T	c.(544-546)aGt>aTt	p.S182I	CADPS_ENST00000357948.3_Missense_Mutation_p.S182I|CADPS_ENST00000490353.2_Missense_Mutation_p.S182I|CADPS_ENST00000283269.9_Missense_Mutation_p.S182I	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	182					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		CTCATAGTAACTCTGCACAGC	0.522													4	66					0.00024832	0.000269806	1	1	0	A	62751556	C	A	62751556	3	1	81	1	0	0	0	0	1	0	0	0	2588	565	20	4	3705	4	CADPS	3	62751556	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	120051	62751556	135270874	3104	6720											
SYNPR	132204	broad.mit.edu	37	3	63466615	63466615	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:63466615G>A	ENST00000478300.1	+	3	603	c.192G>A	c.(190-192)gcG>gcA	p.A64A	SYNPR_ENST00000465156.1_Silent_p.A44A|SYNPR_ENST00000479198.1_Silent_p.A44A|SYNPR_ENST00000295894.5_Silent_p.A44A|SYNPR-AS1_ENST00000488201.1_RNA|SYNPR_ENST00000478744.1_3'UTR|SYNPR_ENST00000460711.1_Silent_p.A55A	NM_001130003.1	NP_001123475.1	Q8TBG9	SYNPR_HUMAN	synaptoporin	44	MARVEL.					cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	transporter activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	8				BRCA - Breast invasive adenocarcinoma(55;0.000918)|KIRC - Kidney renal clear cell carcinoma(15;0.0658)|Kidney(15;0.0904)		TCGACATAGCGTTTGCCTACC	0.478													51	69					0	0	1	0	0	A	63466615	G	A	63466615	2	1	81	1	0	0	0	0	0	0	0	1	15516	1132	40	1		1	SYNPR	3	63466615	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	715059	63466615	134555815	3105	6721											
ATXN7	6314	broad.mit.edu	37	3	63973901	63973901	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:63973901C>T	ENST00000398590.3	+	9	1815	c.1262C>T	c.(1261-1263)aCg>aTg	p.T421M	ATXN7_ENST00000538065.1_Missense_Mutation_p.T421M|ATXN7_ENST00000295900.6_Missense_Mutation_p.T421M|ATXN7_ENST00000484332.1_Missense_Mutation_p.T276M|ATXN7_ENST00000487717.1_Missense_Mutation_p.T421M	NM_001177387.1	NP_001170858.1	O15265	ATX7_HUMAN	ataxin 7	421	Pro-rich.				cell death|histone deubiquitination|nucleus organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nuclear matrix|nucleolus	protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|stomach(1)|urinary_tract(3)	35		Prostate(884;0.0181)		BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305)		CCTCCTAGAACGTCACAGGAG	0.537													13	119					0	0	1	0	0	T	63973901	C	T	63973901	3	4	81	1	0	0	0	0	1	0	0	0	1213	536	19	1	1356	1	ATXN7	3	63973901	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	507286	63973901	134048529	3106	6722	26	2									
ATXN7	6314	broad.mit.edu	37	3	63973906	63973906	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:63973906C>T	ENST00000398590.3	+	9	1820	c.1267C>T	c.(1267-1269)Cag>Tag	p.Q423*	ATXN7_ENST00000538065.1_Nonsense_Mutation_p.Q423*|ATXN7_ENST00000295900.6_Nonsense_Mutation_p.Q423*|ATXN7_ENST00000484332.1_Nonsense_Mutation_p.Q278*|ATXN7_ENST00000487717.1_Nonsense_Mutation_p.Q423*	NM_001177387.1	NP_001170858.1	O15265	ATX7_HUMAN	ataxin 7	423	Pro-rich.				cell death|histone deubiquitination|nucleus organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nuclear matrix|nucleolus	protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|stomach(1)|urinary_tract(3)	35		Prostate(884;0.0181)		BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305)		TAGAACGTCACAGGAGCCGCA	0.532													14	119					0	0	1	0	0	T	63973906	C	T	63973906	4	4	81	1	0	0	0	0	0	1	0	0	1213	479	17	2	1361	2	ATXN7	3	63973906	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	5	63973906	134048524	3107	6723	26	2									
PRICKLE2	166336	broad.mit.edu	37	3	64085353	64085353	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:64085353C>T	ENST00000295902.6	-	8	2494	c.1909G>A	c.(1909-1911)Gga>Aga	p.G637R	RP11-129B22.1_ENST00000482609.1_RNA|PRICKLE2_ENST00000564377.1_Missense_Mutation_p.G693R|PRICKLE2-AS1_ENST00000476308.1_RNA	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN	prickle homolog 2 (Drosophila)	637						cytoplasm|nuclear membrane	zinc ion binding			breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)		TGCATCCTTCCGTGGGACTGC	0.602													30	45					0	0	1	0	0	T	64085353	C	T	64085353	3	4	81	1	0	0	0	0	1	0	0	0	12539	661	23	1	629	1	PRICKLE2	3	64085353	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	111447	64085353	133937077	3108	6724											
PRICKLE2	166336	broad.mit.edu	37	3	64133006	64133006	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:64133006C>T	ENST00000295902.6	-	7	1745	c.1160G>A	c.(1159-1161)aGc>aAc	p.S387N	PRICKLE2_ENST00000564377.1_Missense_Mutation_p.S443N	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN	prickle homolog 2 (Drosophila)	387						cytoplasm|nuclear membrane	zinc ion binding			breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)		CCGGTTGAGGCTGGGTGTCTG	0.607													40	73					0	0	1	0	0	T	64133006	C	T	64133006	3	4	81	1	0	0	0	0	1	0	0	0	12539	797	28	2	1382	2	PRICKLE2	3	64133006	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	47653	64133006	133889424	3109	6725											
PRICKLE2	166336	broad.mit.edu	37	3	64133153	64133153	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:64133153G>A	ENST00000295902.6	-	7	1598	c.1013C>T	c.(1012-1014)gCc>gTc	p.A338V	PRICKLE2_ENST00000564377.1_Missense_Mutation_p.A394V	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN	prickle homolog 2 (Drosophila)	338						cytoplasm|nuclear membrane	zinc ion binding			breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)		GCCAATTTTGGCACTGCGCCG	0.602													59	103					0	0	1	0	0	A	64133153	G	A	64133153	3	1	81	1	0	0	0	0	1	0	0	0	12539	1203	42	2	1529	2	PRICKLE2	3	64133153	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	147	64133153	133889277	3110	6726											
PRICKLE2	166336	broad.mit.edu	37	3	64145736	64145736	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:64145736G>A	ENST00000295902.6	-	4	861	c.276C>T	c.(274-276)tcC>tcT	p.S92S	PRICKLE2_ENST00000564377.1_Silent_p.S148S	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN	prickle homolog 2 (Drosophila)	92	PET.					cytoplasm|nuclear membrane	zinc ion binding			breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)		CCTCATCCAGGGAGTTGCAAT	0.493													38	59					0	0	1	0	0	A	64145736	G	A	64145736	2	1	81	1	0	0	0	0	0	0	0	1	12539	1219	43	2		2	PRICKLE2	3	64145736	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	12583	64145736	133876694	3111	6727											
PRICKLE2	166336	broad.mit.edu	37	3	64184478	64184478	+	Silent	SNP	C	C	T	rs145790169		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:64184478C>T	ENST00000295902.6	-	2	711	c.126G>A	c.(124-126)ccG>ccA	p.P42P	PRICKLE2_ENST00000564377.1_Silent_p.P98P|PRICKLE2-AS3_ENST00000473434.1_RNA	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN	prickle homolog 2 (Drosophila)	42	PET.					cytoplasm|nuclear membrane	zinc ion binding			breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)		GCTTCAGACCCGGCGGGACCC	0.512													18	23					0	0	1	0	0	T	64184478	C	T	64184478	2	4	81	1	0	0	0	0	0	0	0	1	12539	639	23	1		1	PRICKLE2	3	64184478	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	38742	64184478	133837952	3112	6728											
PRICKLE2	166336	broad.mit.edu	37	3	64184562	64184562	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:64184562G>A	ENST00000295902.6	-	2	627	c.42C>T	c.(40-42)agC>agT	p.S14S	PRICKLE2_ENST00000564377.1_Silent_p.S70S|PRICKLE2-AS3_ENST00000473434.1_RNA	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN	prickle homolog 2 (Drosophila)	14						cytoplasm|nuclear membrane	zinc ion binding			breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)		ACATGAGTTTGCTGATGGTCT	0.542													4	43					0	0	1	0	0	A	64184562	G	A	64184562	2	1	81	1	0	0	0	0	0	0	0	1	12539	1310	46	2		2	PRICKLE2	3	64184562	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	84	64184562	133837868	3113	6729											
ADAMTS9	56999	broad.mit.edu	37	3	64601050	64601050	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:64601050G>A	ENST00000498707.1	-	21	3478	c.3136C>T	c.(3136-3138)Cag>Tag	p.Q1046*	ADAMTS9_ENST00000295903.4_Nonsense_Mutation_p.Q1018*	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	1046	TSP type-1 4.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		CTGCACCTCTGAATGGTAACT	0.478													12	78					0	0	1	0	0	A	64601050	G	A	64601050	4	1	81	1	0	0	0	0	0	1	0	0	272	1299	45	2	2747	2	ADAMTS9	3	64601050	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	416488	64601050	133421380	3114	6730											
ADAMTS9	56999	broad.mit.edu	37	3	64617176	64617176	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:64617176G>A	ENST00000498707.1	-	16	2686	c.2344C>T	c.(2344-2346)Cgg>Tgg	p.R782W	ADAMTS9_ENST00000295903.4_Missense_Mutation_p.R754W	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	782	Spacer.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		CTGTGCTGCCGCACATCAATA	0.463													16	120					0	0	1	0	0	A	64617176	G	A	64617176	3	1	81	1	0	0	0	0	1	0	0	0	272	1086	38	1	3559	1	ADAMTS9	3	64617176	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	16126	64617176	133405254	3115	6731											
MAGI1	9223	broad.mit.edu	37	3	65369212	65369212	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:65369212C>T	ENST00000330909.8	-	16	2586	c.2587G>A	c.(2587-2589)Gaa>Aaa	p.E863K	MAGI1_ENST00000402939.2_Missense_Mutation_p.E835K|MAGI1_ENST00000483466.1_Missense_Mutation_p.E863K|MAGI1_ENST00000497477.2_Missense_Mutation_p.E835K	NM_015520.1	NP_056335.1	Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	863	PDZ 4.				cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		CTCACAGGTTCCCCTGGTTCA	0.448													33	27					0	0	1	0	0	T	65369212	C	T	65369212	3	4	81	1	0	0	0	0	1	0	0	0	9240	864	30	2	2067	2	MAGI1	3	65369212	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	752036	65369212	132653218	3116	6732											
MAGI1	9223	broad.mit.edu	37	3	65425626	65425626	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:65425626G>T	ENST00000330909.8	-	9	1197	c.1198C>A	c.(1198-1200)Ctt>Att	p.L400I	MAGI1_ENST00000402939.2_Missense_Mutation_p.L400I|MAGI1_ENST00000470990.1_5'UTR|MAGI1_ENST00000483466.1_Missense_Mutation_p.L400I|MAGI1_ENST00000497477.2_Missense_Mutation_p.L400I	NM_015520.1	NP_056335.1	Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	400					cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		tgctgctCAAGCTGCTTCTTC	0.502											OREG0015658	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	59					0.00024832	0.000269806	1	1	0	T	65425626	G	T	65425626	3	4	81	1	0	0	0	0	1	0	0	0	9240	971	34	4	3484	4	MAGI1	3	65425626	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	56414	65425626	132596804	3117	6733											
LRIG1	26018	broad.mit.edu	37	3	66465424	66465424	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:66465424C>T	ENST00000383703.3	-	5	1170	c.567G>A	c.(565-567)tcG>tcA	p.S189S	LRIG1_ENST00000273261.3_Silent_p.S189S			Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like domains 1	189						integral to membrane				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		GAGTTAGCAGCGACCGTGACA	0.502													29	44					0	0	1	0	0	T	66465424	C	T	66465424	2	4	81	1	0	0	0	0	0	0	0	1	8989	755	27	1		1	LRIG1	3	66465424	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1039798	66465424	131557006	3118	6734											
LRIG1	26018	broad.mit.edu	37	3	66502059	66502059	+	Splice_Site	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:66502059T>C	ENST00000383703.3	-	3	894		c.e3-2		LRIG1_ENST00000273261.3_Splice_Site			Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like domains 1							integral to membrane				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		TTGAGGTACCTGTAACAACAA	0.418													5	79					0	0	1	0	0	C	66502059	T	C	66502059	5	2	81	1	0	0	0	0	0	0	1	0	8989	1594	55	3	3060	3	LRIG1	3	66502059	Splice_Site	SNP	T	TCGA-DU-6392-01A-11D-1705-08	36635	66502059	131520371	3119	6735											
SUCLG2	8801	broad.mit.edu	37	3	67546270	67546270	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:67546270C>A	ENST00000307227.5	-	9	1041	c.1014G>T	c.(1012-1014)aaG>aaT	p.K338N	SUCLG2_ENST00000493112.1_Missense_Mutation_p.K338N|SUCLG2_ENST00000492795.1_Missense_Mutation_p.K338N	NM_003848.3	NP_003839.2	Q96I99	SUCB2_HUMAN	succinate-CoA ligase, GDP-forming, beta subunit	338					succinyl-CoA metabolic process|tricarboxylic acid cycle	mitochondrial matrix	ATP binding|GTP binding|succinate-CoA ligase (GDP-forming) activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|skin(1)	10		Renal(2;0.00294)|Lung NSC(201;0.012)|Hepatocellular(537;0.121)		BRCA - Breast invasive adenocarcinoma(55;3.53e-05)|Epithelial(33;0.000153)	Succinic acid(DB00139)	CTTGAGCTTCCTTTACACCAC	0.433													8	73					0.000157383	0.000171784	1	1	0	A	67546270	C	A	67546270	3	1	81	1	0	0	0	0	1	0	0	0	15421	680	24	4	440	4	SUCLG2	3	67546270	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1044211	67546270	130476160	3120	6736											
TMF1	7110	broad.mit.edu	37	3	69075205	69075205	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:69075205C>T	ENST00000543976.1	-	14	3056	c.2810G>A	c.(2809-2811)cGc>cAc	p.R937H	CTD-2013N24.2_ENST00000598783.1_RNA|CTD-2013N24.2_ENST00000601735.1_RNA|CTD-2013N24.2_ENST00000596523.1_RNA|CTD-2013N24.2_ENST00000601511.1_RNA|CTD-2013N24.2_ENST00000597366.1_RNA|CTD-2013N24.2_ENST00000595925.1_RNA|CTD-2013N24.2_ENST00000597950.1_RNA|TMF1_ENST00000398559.2_Missense_Mutation_p.R934H|CTD-2013N24.2_ENST00000596732.1_RNA|CTD-2013N24.2_ENST00000599467.1_RNA|TMF1_ENST00000489370.1_5'UTR|CTD-2013N24.2_ENST00000482368.2_RNA	NM_007114.2	NP_009045.2	P82094	TMF1_HUMAN	TATA element modulatory factor 1	934					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi membrane|nucleus	DNA binding|protein binding|transcription cofactor activity			cervix(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;4.48e-05)|Epithelial(33;0.000274)|LUSC - Lung squamous cell carcinoma(21;0.0123)|KIRC - Kidney renal clear cell carcinoma(39;0.211)|Kidney(39;0.247)		TGAACTTGAGCGTGACATGGT	0.358													13	27					0	0	1	0	0	T	69075205	C	T	69075205	3	4	81	1	0	0	0	0	1	0	0	0	16288	768	27	1	496	1	TMF1	3	69075205	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1528935	69075205	128947225	3121	6737											
TMF1	7110	broad.mit.edu	37	3	69079032	69079032	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:69079032C>T	ENST00000543976.1	-	11	2783	c.2537G>A	c.(2536-2538)aGt>aAt	p.S846N	CTD-2013N24.2_ENST00000598783.1_RNA|CTD-2013N24.2_ENST00000601735.1_RNA|CTD-2013N24.2_ENST00000596523.1_RNA|CTD-2013N24.2_ENST00000601511.1_RNA|CTD-2013N24.2_ENST00000597366.1_RNA|CTD-2013N24.2_ENST00000595925.1_RNA|CTD-2013N24.2_ENST00000597950.1_RNA|TMF1_ENST00000398559.2_Missense_Mutation_p.S843N|CTD-2013N24.2_ENST00000596732.1_RNA|CTD-2013N24.2_ENST00000599467.1_RNA|CTD-2013N24.2_ENST00000482368.2_RNA	NM_007114.2	NP_009045.2	P82094	TMF1_HUMAN	TATA element modulatory factor 1	843					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi membrane|nucleus	DNA binding|protein binding|transcription cofactor activity			cervix(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;4.48e-05)|Epithelial(33;0.000274)|LUSC - Lung squamous cell carcinoma(21;0.0123)|KIRC - Kidney renal clear cell carcinoma(39;0.211)|Kidney(39;0.247)		TTGAAATCTACTGTTTTCCTG	0.403													41	63					0	0	1	0	0	T	69079032	C	T	69079032	3	4	81	1	0	0	0	0	1	0	0	0	16288	565	20	2	781	2	TMF1	3	69079032	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3827	69079032	128943398	3122	6738											
TMF1	7110	broad.mit.edu	37	3	69088055	69088055	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:69088055C>A	ENST00000543976.1	-	7	2188	c.1942G>T	c.(1942-1944)Gac>Tac	p.D648Y	CTD-2013N24.2_ENST00000598783.1_RNA|CTD-2013N24.2_ENST00000601735.1_RNA|CTD-2013N24.2_ENST00000596523.1_RNA|CTD-2013N24.2_ENST00000595925.1_RNA|CTD-2013N24.2_ENST00000597950.1_RNA|CTD-2013N24.2_ENST00000596274.1_RNA|TMF1_ENST00000398559.2_Missense_Mutation_p.D645Y|CTD-2013N24.2_ENST00000596732.1_RNA|CTD-2013N24.2_ENST00000482368.2_RNA	NM_007114.2	NP_009045.2	P82094	TMF1_HUMAN	TATA element modulatory factor 1	645					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi membrane|nucleus	DNA binding|protein binding|transcription cofactor activity			cervix(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;4.48e-05)|Epithelial(33;0.000274)|LUSC - Lung squamous cell carcinoma(21;0.0123)|KIRC - Kidney renal clear cell carcinoma(39;0.211)|Kidney(39;0.247)		TCATCCATGTCTACCTGAAGA	0.373													34	45					5.8336e-16	7.46609e-16	1	1	0	A	69088055	C	A	69088055	3	1	81	1	0	0	0	0	1	0	0	0	16288	913	32	4	1392	4	TMF1	3	69088055	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	9023	69088055	128934375	3123	6739											
UBA3	9039	broad.mit.edu	37	3	69120750	69120750	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:69120750G>A	ENST00000361055.4	-	5	337	c.283C>T	c.(283-285)Cag>Tag	p.Q95*	UBA3_ENST00000349511.4_Nonsense_Mutation_p.Q81*|UBA3_ENST00000540295.1_Intron|UBA3_ENST00000415609.2_Nonsense_Mutation_p.Q54*	NM_003968.3	NP_003959.3	Q8TBC4	UBA3_HUMAN	ubiquitin-like modifier activating enzyme 3	95					protein neddylation|proteolysis	nucleus	acid-amino acid ligase activity|ATP binding|protein heterodimerization activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;7.98e-05)|Epithelial(33;0.000363)|LUSC - Lung squamous cell carcinoma(21;0.012)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.206)|Kidney(39;0.241)		ACATGAATCTGTCTAAAACCA	0.299													6	31					0	0	1	0	0	A	69120750	G	A	69120750	4	1	81	1	0	0	0	0	0	1	0	0	16890	1386	48	2	1164	2	UBA3	3	69120750	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	32695	69120750	128901680	3124	6740											
ARL6IP5	10550	broad.mit.edu	37	3	69151036	69151036	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:69151036C>T	ENST00000273258.3	+	2	327	c.223C>T	c.(223-225)Ctg>Ttg	p.L75L	ARL6IP5_ENST00000478935.1_Intron	NM_006407.3	NP_006398.1	O75915	PRAF3_HUMAN	ADP-ribosylation-like factor 6 interacting protein 5	75					L-glutamate transport	endoplasmic reticulum membrane|integral to membrane				biliary_tract(1)|endometrium(1)|large_intestine(2)|ovary(1)|prostate(1)|urinary_tract(1)	7		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;7.78e-05)|Epithelial(33;0.000818)|LUSC - Lung squamous cell carcinoma(21;0.0118)|Lung(16;0.0189)|KIRC - Kidney renal clear cell carcinoma(39;0.203)|Kidney(39;0.238)		CGTGGTGGTGCTGGTGTTCAC	0.502													12	22					0	0	1	0	0	T	69151036	C	T	69151036	2	4	81	1	0	0	0	0	0	0	0	1	943	796	28	2		2	ARL6IP5	3	69151036	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	30286	69151036	128871394	3125	6741											
FRMD4B	23150	broad.mit.edu	37	3	69230239	69230239	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:69230239T>C	ENST00000542259.1	-	22	2951	c.2500A>G	c.(2500-2502)Aaa>Gaa	p.K834E	FRMD4B_ENST00000398540.3_Missense_Mutation_p.K888E|FRMD4B_ENST00000478263.1_Missense_Mutation_p.K540E			Q9Y2L6	FRM4B_HUMAN	FERM domain containing 4B	888						cytoplasm|cytoskeleton	binding			NS(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(2)	19		Lung NSC(201;0.0138)|Prostate(884;0.11)		BRCA - Breast invasive adenocarcinoma(55;0.000201)|Epithelial(33;0.00141)|LUSC - Lung squamous cell carcinoma(21;0.00999)|Lung(16;0.0182)		TGGATGTTTTTGGTGATGTGC	0.567													4	43					0	0	1	0	0	C	69230239	T	C	69230239	3	2	81	1	0	0	0	0	1	0	0	0	6087	1821	63	3	454	3	FRMD4B	3	69230239	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	79203	69230239	128792191	3126	6742											
FOXP1	27086	broad.mit.edu	37	3	71026811	71026811	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:71026811C>T	ENST00000318789.4	-	16	1936	c.1411G>A	c.(1411-1413)Gca>Aca	p.A471T	FOXP1_ENST00000491238.1_Missense_Mutation_p.A473T|FOXP1_ENST00000468577.1_Missense_Mutation_p.A471T|FOXP1_ENST00000484350.1_Missense_Mutation_p.A395T|FOXP1_ENST00000498215.1_Missense_Mutation_p.A471T|FOXP1_ENST00000493089.1_Missense_Mutation_p.A470T|FOXP1_ENST00000475937.1_Missense_Mutation_p.A471T	NM_001244810.1|NM_001244813.1|NM_032682.5	NP_001231739.1|NP_001231742.1|NP_116071.2	Q9H334	FOXP1_HUMAN	forkhead box P1	471					cardiac muscle cell differentiation|embryo development|immunoglobulin V(D)J recombination|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of immunoglobulin production|positive regulation of mesenchymal cell proliferation|pre-B cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|skeletal muscle tissue development|smooth muscle tissue development	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)		ATTAAAGATGCATATGTAAAT	0.299			T	PAX5	ALL								6	73					0	0	1	0	0	T	71026811	C	T	71026811	3	4	81	1	0	0	0	0	1	0	0	0	6060	710	25	2	646	2	FOXP1	3	71026811	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1796572	71026811	126995619	3127	6743											
FOXP1	27086	broad.mit.edu	37	3	71102876	71102876	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:71102876G>A	ENST00000318789.4	-	8	856	c.331C>T	c.(331-333)Caa>Taa	p.Q111*	FOXP1_ENST00000472382.1_5'UTR|FOXP1_ENST00000491238.1_Nonsense_Mutation_p.Q113*|FOXP1_ENST00000468577.1_Nonsense_Mutation_p.Q111*|FOXP1_ENST00000484350.1_Intron|FOXP1_ENST00000498215.1_Nonsense_Mutation_p.Q111*|FOXP1_ENST00000493089.1_Nonsense_Mutation_p.Q111*|FOXP1_ENST00000475937.1_Nonsense_Mutation_p.Q111*	NM_001244810.1|NM_001244813.1|NM_032682.5	NP_001231739.1|NP_001231742.1|NP_116071.2	Q9H334	FOXP1_HUMAN	forkhead box P1	111	Gln-rich.				cardiac muscle cell differentiation|embryo development|immunoglobulin V(D)J recombination|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of immunoglobulin production|positive regulation of mesenchymal cell proliferation|pre-B cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|skeletal muscle tissue development|smooth muscle tissue development	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)		TGCTGCATTTGCTGGGGAGTG	0.507			T	PAX5	ALL								19	36					0	0	1	0	0	A	71102876	G	A	71102876	4	1	81	1	0	0	0	0	0	1	0	0	6060	1328	46	2	1758	2	FOXP1	3	71102876	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	76065	71102876	126919554	3128	6744											
GXYLT2	727936	broad.mit.edu	37	3	73024186	73024187	+	Frame_Shift_Ins	INS	-	-	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:73024186_73024187insG	ENST00000389617.4	+	7	1369_1370	c.1208_1209insG	c.(1207-1212)ttggagfs	p.E404fs		NM_001080393.1	NP_001073862.1	A0PJZ3	GXLT2_HUMAN	glucoside xylosyltransferase 2	404					O-glycan processing	integral to membrane	UDP-xylosyltransferase activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	18						CTGAAGTTTTTGGAGACTGTGC	0.371													41	87	---	---	---	---						G	73024187	-	G	73024186	7	5	81	1	0	1	1	0	0	0	0	0	6945	1821	63	0	1234	0	GXYLT2	3	73024186	Frame_Shift_Ins	INS	-	TCGA-DU-6392-01A-11D-1705-08	1921310	73024186	124998244	3129	6745											
PPP4R2	151987	broad.mit.edu	37	3	73096445	73096445	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:73096445C>T	ENST00000356692.5	+	3	478	c.225C>T	c.(223-225)gtC>gtT	p.V75V	PPP4R2_ENST00000295862.9_Silent_p.V19V|PPP4R2_ENST00000394284.3_Intron			Q9NY27	PP4R2_HUMAN	protein phosphatase 4, regulatory subunit 2	75					mRNA processing|protein modification process|regulation of double-strand break repair via homologous recombination|RNA splicing	centrosome|nucleus|protein phosphatase 4 complex	protein binding, bridging|protein phosphatase type 4 regulator activity			breast(2)|endometrium(1)|large_intestine(1)|lung(3)|skin(2)|stomach(1)|urinary_tract(2)	12		Prostate(10;0.0187)|Lung SC(41;0.236)		Epithelial(33;1.76e-07)|BRCA - Breast invasive adenocarcinoma(55;9.42e-05)|LUSC - Lung squamous cell carcinoma(21;0.00211)|Lung(16;0.00643)|KIRC - Kidney renal clear cell carcinoma(39;0.0164)|Kidney(39;0.0193)|OV - Ovarian serous cystadenocarcinoma(275;0.031)		ACCCTAATGTCGAATATATTC	0.348													13	22					0	0	1	0	0	T	73096445	C	T	73096445	2	4	81	1	0	0	0	0	0	0	0	1	12453	871	31	1		1	PPP4R2	3	73096445	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	72259	73096445	124925985	3130	6746											
PDZRN3	23024	broad.mit.edu	37	3	73433282	73433282	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:73433282G>A	ENST00000263666.4	-	10	2549	c.2435C>T	c.(2434-2436)aCg>aTg	p.T812M	PDZRN3_ENST00000535920.1_Missense_Mutation_p.T534M|PDZRN3_ENST00000466780.1_Missense_Mutation_p.T469M|PDZRN3_ENST00000462146.2_Missense_Mutation_p.T469M|PDZRN3_ENST00000479530.1_Missense_Mutation_p.T529M	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	812							ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		GGGATCTTCCGTGATGGAGAG	0.647													10	55					0	0	1	0	0	A	73433282	G	A	73433282	3	1	81	1	0	0	0	0	1	0	0	0	11756	1145	40	1	769	1	PDZRN3	3	73433282	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	336837	73433282	124589148	3131	6747											
PDZRN3	23024	broad.mit.edu	37	3	73651590	73651590	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:73651590C>T	ENST00000263666.4	-	3	947	c.833G>A	c.(832-834)aGt>aAt	p.S278N	PDZRN3_ENST00000308537.4_Missense_Mutation_p.S278N	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	278	PDZ 1.						ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		GATTCCTTCACTGGATGATCC	0.408													10	151					0	0	1	0	0	T	73651590	C	T	73651590	3	4	81	1	0	0	0	0	1	0	0	0	11756	565	20	2	2399	2	PDZRN3	3	73651590	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	218308	73651590	124370840	3132	6748											
CNTN3	5067	broad.mit.edu	37	3	74316426	74316426	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:74316426T>C	ENST00000263665.6	-	20	2835	c.2808A>G	c.(2806-2808)acA>acG	p.T936T	CNTN3_ENST00000477856.1_5'UTR	NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	936	Fibronectin type-III 4.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		CTTTATATCCTGTTACTTCTG	0.358													6	92					0	0	1	0	0	C	74316426	T	C	74316426	2	2	81	1	0	0	0	0	0	0	0	1	3665	1567	55	3		3	CNTN3	3	74316426	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	664836	74316426	123706004	3133	6749											
CNTN3	5067	broad.mit.edu	37	3	74344360	74344360	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:74344360G>T	ENST00000263665.6	-	18	2456	c.2429C>A	c.(2428-2430)tCt>tAt	p.S810Y		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	810	Fibronectin type-III 3.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		GCTATTTGCAGAGACTTGAGA	0.373													23	32					2.32416e-17	2.99827e-17	1	1	0	T	74344360	G	T	74344360	3	4	81	1	0	0	0	0	1	0	0	0	3665	942	33	4	677	4	CNTN3	3	74344360	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	27934	74344360	123678070	3134	6750											
CNTN3	5067	broad.mit.edu	37	3	74347325	74347325	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:74347325T>C	ENST00000263665.6	-	17	2211	c.2184A>G	c.(2182-2184)ctA>ctG	p.L728L		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	728	Fibronectin type-III 2.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		CACCATTCTGTAGTTCTTCAG	0.463													18	12					0	0	1	0	0	C	74347325	T	C	74347325	2	2	81	1	0	0	0	0	0	0	0	1	3665	1625	57	3		3	CNTN3	3	74347325	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	2965	74347325	123675105	3135	6751											
ROBO2	6092	broad.mit.edu	37	3	77147402	77147402	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:77147402G>T	ENST00000461745.1	+	2	1199	c.299G>T	c.(298-300)aGg>aTg	p.R100M	ROBO2_ENST00000332191.8_Missense_Mutation_p.R100M|ROBO2_ENST00000487694.3_Missense_Mutation_p.R116M	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	100	Ig-like C2-type 1.				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		CACGGGCGCAGGAGTAAACCT	0.537													7	34					0.000157383	0.000171784	1	1	0	T	77147402	G	T	77147402	3	4	81	1	0	0	0	0	1	0	0	0	13566	1000	35	4	307	4	ROBO2	3	77147402	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2800077	77147402	120875028	3136	6752											
ROBO2	6092	broad.mit.edu	37	3	77600087	77600087	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:77600087C>A	ENST00000461745.1	+	8	2078	c.1178C>A	c.(1177-1179)gCt>gAt	p.A393D	ROBO2_ENST00000332191.8_Missense_Mutation_p.A393D|ROBO2_ENST00000487694.3_Missense_Mutation_p.A409D	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	393	Ig-like C2-type 4.				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		ATCTGCCAGGCTTTAACTGTG	0.443													23	36					3.83957e-06	4.37676e-06	1	1	0	A	77600087	C	A	77600087	3	1	81	1	0	0	0	0	1	0	0	0	13566	797	28	4	1210	4	ROBO2	3	77600087	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	452685	77600087	120422343	3137	6753											
ROBO2	6092	broad.mit.edu	37	3	77600102	77600102	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:77600102G>A	ENST00000461745.1	+	8	2093	c.1193G>A	c.(1192-1194)gGa>gAa	p.G398E	ROBO2_ENST00000332191.8_Missense_Mutation_p.G398E|ROBO2_ENST00000487694.3_Missense_Mutation_p.G414E	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	398	Ig-like C2-type 4.				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		ACTGTGGCAGGAAGCATTTTA	0.413													21	37					0	0	1	0	0	A	77600102	G	A	77600102	3	1	81	1	0	0	0	0	1	0	0	0	13566	1174	41	2	1225	2	ROBO2	3	77600102	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	15	77600102	120422328	3138	6754											
ROBO2	6092	broad.mit.edu	37	3	77614262	77614262	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:77614262C>T	ENST00000461745.1	+	12	2740	c.1840C>T	c.(1840-1842)Cgc>Tgc	p.R614C	ROBO2_ENST00000332191.8_Missense_Mutation_p.R614C|ROBO2_ENST00000487694.3_Missense_Mutation_p.R630C	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	614					apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		AGATCCTGTGCGCACACAAGG	0.468													31	40					0	0	1	0	0	T	77614262	C	T	77614262	3	4	81	1	0	0	0	0	1	0	0	0	13566	768	27	1	1888	1	ROBO2	3	77614262	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	14160	77614262	120408168	3139	6755											
ROBO2	6092	broad.mit.edu	37	3	77651375	77651375	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:77651375G>T	ENST00000461745.1	+	20	3769	c.2869G>T	c.(2869-2871)Gtt>Ttt	p.V957F	ROBO2_ENST00000332191.8_Missense_Mutation_p.V957F|ROBO2_ENST00000487694.3_Missense_Mutation_p.V973F	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	957					apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		GCTGCCACCAGTTCCAGGCCA	0.438													4	37					0.00024832	0.000269806	1	1	0	T	77651375	G	T	77651375	3	4	81	1	0	0	0	0	1	0	0	0	13566	1029	36	4	2949	4	ROBO2	3	77651375	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	37113	77651375	120371055	3140	6756											
ROBO1	6091	broad.mit.edu	37	3	78708951	78708951	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:78708951C>A	ENST00000436010.2	-	15	3207	c.2210G>T	c.(2209-2211)aGt>aTt	p.S737I	ROBO1_ENST00000464233.1_Missense_Mutation_p.S776I|ROBO1_ENST00000495273.1_Missense_Mutation_p.S740I|ROBO1_ENST00000467549.1_Missense_Mutation_p.S740I			Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	776	Fibronectin type-III 2.				activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		GGGTGGGGCACTGGGTGCTAT	0.383													3	4					0.115264	0.117126	1	1	0	A	78708951	C	A	78708951	3	1	81	1	0	0	0	0	1	0	0	0	13565	565	20	4	2688	4	ROBO1	3	78708951	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1057576	78708951	119313479	3141	6757											
ROBO1	6091	broad.mit.edu	37	3	78763663	78763663	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:78763663C>T	ENST00000436010.2	-	6	1809	c.812G>A	c.(811-813)cGa>cAa	p.R271Q	ROBO1_ENST00000464233.1_Missense_Mutation_p.R310Q|ROBO1_ENST00000495273.1_Missense_Mutation_p.R271Q|ROBO1_ENST00000467549.1_Missense_Mutation_p.R271Q			Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	310	Ig-like C2-type 3.				activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		ATGATCATCTCGGATTTCATA	0.378													14	17					0	0	1	0	0	T	78763663	C	T	78763663	3	4	81	1	0	0	0	0	1	0	0	0	13565	884	31	1	4135	1	ROBO1	3	78763663	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	54712	78763663	119258767	3142	6758											
GBE1	2632	broad.mit.edu	37	3	81584433	81584433	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:81584433A>G	ENST00000429644.2	-	14	2490	c.1847T>C	c.(1846-1848)tTt>tCt	p.F616S	GBE1_ENST00000489715.1_Missense_Mutation_p.F575S	NM_000158.3	NP_000149	Q04446	GLGB_HUMAN	glucan (1,4-alpha-), branching enzyme 1	616					glucose metabolic process|glycogen biosynthetic process	cytosol	1,4-alpha-glucan branching enzyme activity|cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			breast(1)|endometrium(5)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Lung NSC(201;0.0117)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0654)|Epithelial(33;0.00305)|LUSC - Lung squamous cell carcinoma(29;0.00646)|BRCA - Breast invasive adenocarcinoma(55;0.00813)|Lung(72;0.0129)|KIRC - Kidney renal clear cell carcinoma(39;0.212)|Kidney(39;0.247)		TGCTCTTTCAAAAGCAATGAT	0.388									Glycogen Storage Disease, type IV				4	44					0	0	1	0	0	G	81584433	A	G	81584433	3	3	81	1	0	0	0	0	1	0	0	0	6310	14	1	3	273	3	GBE1	3	81584433	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	2820770	81584433	116437997	3143	6759											
CHMP2B	25978	broad.mit.edu	37	3	87294956	87294956	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:87294956G>A	ENST00000263780.4	+	3	457	c.219G>A	c.(217-219)acG>acA	p.T73T	CHMP2B_ENST00000494980.1_Silent_p.T73T|CHMP2B_ENST00000471660.1_Silent_p.T32T|CHMP2B_ENST00000472024.1_3'UTR	NM_014043.3	NP_054762.2	Q9UQN3	CHM2B_HUMAN	charged multivesicular body protein 2B	73					cellular membrane organization|endosome transport|protein transport	cytosol|late endosome membrane|mitochondrion|nucleus	protein domain specific binding	p.T73T(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(1)|ovary(1)|skin(2)	12	all_cancers(8;0.104)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)		AACAGAAGACGAGAACTTTTG	0.363													22	38					0	0	1	0	0	A	87294956	G	A	87294956	2	1	81	1	0	0	0	0	0	0	0	1	3377	1045	37	1		1	CHMP2B	3	87294956	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	5710523	87294956	110727474	3144	6760											
HTR1F	3355	broad.mit.edu	37	3	88040645	88040645	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:88040645A>C	ENST00000319595.4	+	1	800	c.746A>C	c.(745-747)aAg>aCg	p.K249T		NM_000866.3	NP_000857.1	P30939	5HT1F_HUMAN	5-hydroxytryptamine (serotonin) receptor 1F, G protein-coupled	249					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	serotonin binding|serotonin receptor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(8;0.147)	Lung NSC(201;0.0283)		LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00664)	Eletriptan(DB00216)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Zolmitriptan(DB00315)	GTACTAGAAAAGTCTTTATCT	0.408													20	36					0	0	1	0	0	C	88040645	A	C	88040645	3	2	81	1	0	0	0	0	1	0	0	0	7484	72	3	5	748	5	HTR1F	3	88040645	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	745689	88040645	109981785	3145	6761											
HTR1F	3355	broad.mit.edu	37	3	88040979	88040979	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:88040979G>A	ENST00000319595.4	+	1	1134	c.1080G>A	c.(1078-1080)aaG>aaA	p.K360K		NM_000866.3	NP_000857.1	P30939	5HT1F_HUMAN	5-hydroxytryptamine (serotonin) receptor 1F, G protein-coupled	360					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	serotonin binding|serotonin receptor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(8;0.147)	Lung NSC(201;0.0283)		LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00664)	Eletriptan(DB00216)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Zolmitriptan(DB00315)	CATTCCAAAAGCTTGTGCGAT	0.338													4	49					0	0	1	0	0	A	88040979	G	A	88040979	2	1	81	1	0	0	0	0	0	0	0	1	7484	962	34	2		2	HTR1F	3	88040979	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	334	88040979	109981451	3146	6762											
ZNF654	55279	broad.mit.edu	37	3	88188839	88188839	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:88188839G>A	ENST00000309495.5	+	1	586	c.379G>A	c.(379-381)Gaa>Aaa	p.E127K	CGGBP1_ENST00000462901.1_Intron	NM_018293.2	NP_060763.2	Q8IZM8	ZN654_HUMAN	zinc finger protein 654	127					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(3)	12		Lung NSC(201;0.0283)		UCEC - Uterine corpus endometrioid carcinoma (27;0.194)|LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00661)		AGatgttattgaaaatgttat	0.363													3	7					0	0	1	0	0	A	88188839	G	A	88188839	3	1	81	1	0	0	0	0	1	0	0	0	18124	1291	45	2	381	2	ZNF654	3	88188839	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	147860	88188839	109833591	3147	6763											
EPHA6	285220	broad.mit.edu	37	3	97367132	97367132	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:97367132C>T	ENST00000514100.1	+	13	1397	c.1155C>T	c.(1153-1155)gaC>gaT	p.D385D	EPHA6_ENST00000389672.5_Intron|EPHA6_ENST00000502694.1_Silent_p.D321D	NM_001278300.1	NP_001265229.1	Q9UF33	EPHA6_HUMAN	EPH receptor A6	0	Fibronectin type-III 1.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						ATTCATAGGACCTCTTCCAAA	0.343													10	35					0	0	1	0	0	T	97367132	C	T	97367132	2	4	81	1	0	0	0	0	0	0	0	1	5199	506	18	2		2	EPHA6	3	97367132	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	9178293	97367132	100655298	3148	6764											
ARL6	84100	broad.mit.edu	37	3	97487043	97487043	+	Missense_Mutation	SNP	C	C	T	rs104893680		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:97487043C>T	ENST00000463745.1	+	2	569	c.92C>T	c.(91-93)aCg>aTg	p.T31M	ARL6_ENST00000496713.1_3'UTR|ARL6_ENST00000394206.1_Missense_Mutation_p.T31M|ARL6_ENST00000335979.2_Missense_Mutation_p.T31M	NM_001278293.1	NP_001265222.1	Q9H0F7	ARL6_HUMAN	ADP-ribosylation factor-like 6	31			T -> M (in BBS3; abrogates the GTP- binding ability without affecting GDP- binding/dissociating properties; increased proteasomal degradation).|T -> R (in BBS3; locked in a GDP-bound state that differs from its wild-type counterpart which is mainly GTP-bound; increased proteasomal degradation).		cilium assembly|determination of left/right symmetry|melanosome transport|protein polymerization|protein targeting to membrane|small GTPase mediated signal transduction|visual perception|Wnt receptor signaling pathway	axonemal microtubule|cilium axoneme|cilium membrane|membrane coat|microtubule basal body	GTP binding|metal ion binding|phospholipid binding|protein binding			large_intestine(1)|lung(4)	5		Lung NSC(201;0.0193)|Prostate(884;0.174)		LUSC - Lung squamous cell carcinoma(29;0.0118)|Lung(72;0.0189)		AGTGGCAAAACGACGATCATT	0.348													19	40					0	0	1	0	0	T	97487043	C	T	97487043	3	4	81	1	0	0	0	0	1	0	0	0	940	536	19	1	94	1	ARL6	3	97487043	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	119911	97487043	100535387	3149	6765											
MINA	84864	broad.mit.edu	37	3	97668832	97668832	+	Silent	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:97668832T>G	ENST00000333396.7	-	7	1498	c.916A>C	c.(916-918)Aga>Cga	p.R306R	MINA_ENST00000394198.2_Silent_p.R306R|MINA_ENST00000360258.4_Silent_p.R305R	NM_001042533.2|NM_032778.5	NP_001035998.1|NP_116167.3	Q8IUF8	MINA_HUMAN	MYC induced nuclear antigen						ribosome biogenesis	cytoplasm|nucleolus				breast(2)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1)	13						CTTAATCGTCTTGTAGCAACA	0.502													5	64					0	0	1	0	0	G	97668832	T	G	97668832	2	3	81	1	0	0	0	0	0	0	0	1	9634	1617	56	5		5	MINA	3	97668832	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	181789	97668832	100353598	3150	6766											
GABRR3	200959	broad.mit.edu	37	3	97705802	97705802	+	RNA	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:97705802C>T	ENST00000472788.1	-	0	1130					NM_001105580.2	NP_001099050.1	A8MPY1	GBRR3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 3						gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			large_intestine(2)|lung(1)	3						GCTTGAACTGCATCAATATTG	0.338													6	4					0	0	1	0	0	T	97705802	C	T	97705802	1	4	81	0	1	0	0	0	0	0	0	0	6213	710	25	2		2	GABRR3	3	97705802	RNA	SNP	C	TCGA-DU-6392-01A-11D-1705-08	36970	97705802	100316628	3151	6767											
OR5H1	26341	broad.mit.edu	37	3	97851814	97851814	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:97851814G>A	ENST00000354565.2	+	1	273	c.273G>A	c.(271-273)atG>atA	p.M91I	RP11-343D2.11_ENST00000508964.1_RNA	NM_001005338.1	NP_001005338.1	A6NKK0	OR5H1_HUMAN	olfactory receptor, family 5, subfamily H, member 1	91					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(7)|kidney(8)|large_intestine(3)|lung(13)|ovary(1)|skin(1)	34						AGAGTAAGATGATATCTCTCT	0.393													67	115					0	0	1	0	0	A	97851814	G	A	97851814	3	1	81	1	0	0	0	0	1	0	0	0	11206	1290	45	2	275	2	OR5H1	3	97851814	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	146012	97851814	100170616	3152	6768											
OR5H14	403273	broad.mit.edu	37	3	97868254	97868254	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:97868254C>A	ENST00000437310.1	+	1	85	c.25C>A	c.(25-27)Ctg>Atg	p.L9M		NM_001005514.1	NP_001005514.1	A6NHG9	O5H14_HUMAN	olfactory receptor, family 5, subfamily H, member 14	9					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						TGCAACATTGCTGACAGAGTT	0.383													53	78					5.96624e-29	7.94272e-29	1	1	0	A	97868254	C	A	97868254	3	1	81	1	0	0	0	0	1	0	0	0	11207	796	28	4	27	4	OR5H14	3	97868254	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	16440	97868254	100154176	3153	6769											
OR5H15	403274	broad.mit.edu	37	3	97888283	97888283	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:97888283C>A	ENST00000356526.2	+	1	740	c.740C>A	c.(739-741)tCt>tAt	p.S247Y		NM_001005515.1	NP_001005515.1	A6NDH6	O5H15_HUMAN	olfactory receptor, family 5, subfamily H, member 15	247					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(2)|stomach(1)	35						CATCTCTTCTCTGTCTGTTTA	0.428													5	52					0.014758	0.0152304	1	1	0	A	97888283	C	A	97888283	3	1	81	1	0	0	0	0	1	0	0	0	11208	913	32	4	742	4	OR5H15	3	97888283	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	20029	97888283	100134147	3154	6770											
OR5H15	403274	broad.mit.edu	37	3	97888395	97888395	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:97888395G>A	ENST00000356526.2	+	1	852	c.852G>A	c.(850-852)ttG>ttA	p.L284L		NM_001005515.1	NP_001005515.1	A6NDH6	O5H15_HUMAN	olfactory receptor, family 5, subfamily H, member 15	284					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(2)|stomach(1)	35						TCATTCCTTTGTTAAATCCTA	0.363													9	61					0	0	1	0	0	A	97888395	G	A	97888395	2	1	81	1	0	0	0	0	0	0	0	1	11208	1368	48	2		2	OR5H15	3	97888395	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	112	97888395	100134035	3155	6771											
OR5H2	79310	broad.mit.edu	37	3	98001933	98001933	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:98001933C>A	ENST00000355273.2	+	1	202	c.202C>A	c.(202-204)Ctt>Att	p.L68I	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005482.1	NP_001005482.1	Q8NGV7	OR5H2_HUMAN	olfactory receptor, family 5, subfamily H, member 2	68					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(5)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	24						GTACTTTTTTCTTGGGAGTTT	0.408													113	179					2.19568e-55	2.95804e-55	1	1	0	A	98001933	C	A	98001933	3	1	81	1	0	0	0	0	1	0	0	0	11209	913	32	4	204	4	OR5H2	3	98001933	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	113538	98001933	100020497	3156	6772											
OR5H2	79310	broad.mit.edu	37	3	98002546	98002546	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:98002546C>T	ENST00000355273.2	+	1	815	c.815C>T	c.(814-816)gCa>gTa	p.A272V	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005482.1	NP_001005482.1	Q8NGV7	OR5H2_HUMAN	olfactory receptor, family 5, subfamily H, member 2	272					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A272V(1)		breast(1)|endometrium(1)|large_intestine(5)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	24						TCTCCACAAGCAGATGACCAA	0.378													5	43					0	0	1	0	0	T	98002546	C	T	98002546	3	4	81	1	0	0	0	0	1	0	0	0	11209	710	25	2	817	2	OR5H2	3	98002546	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	613	98002546	100019884	3157	6773											
OR5K1	26339	broad.mit.edu	37	3	98188702	98188702	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:98188702C>A	ENST00000332650.5	+	1	379	c.282C>A	c.(280-282)ctC>ctA	p.L94L		NM_001004736.2	NP_001004736.2	Q8NHB7	OR5K1_HUMAN	olfactory receptor, family 5, subfamily K, member 1	94					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(4)|lung(21)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GGATTTCCCTCTATGAATGTG	0.433													17	192					3.45872e-05	3.85959e-05	1	1	0	A	98188702	C	A	98188702	2	1	81	1	0	0	0	0	0	0	0	1	11213	900	32	4		4	OR5K1	3	98188702	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	186156	98188702	99833728	3158	6774											
OR5K1	26339	broad.mit.edu	37	3	98188949	98188949	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:98188949T>G	ENST00000332650.5	+	1	626	c.529T>G	c.(529-531)Ttt>Gtt	p.F177V		NM_001004736.2	NP_001004736.2	Q8NHB7	OR5K1_HUMAN	olfactory receptor, family 5, subfamily K, member 1	177					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(4)|lung(21)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CATCAACCACTTTTACTGTGA	0.398													16	208					0	0	1	0	0	G	98188949	T	G	98188949	3	3	81	1	0	0	0	0	1	0	0	0	11213	1609	56	5	531	5	OR5K1	3	98188949	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	247	98188949	99833481	3159	6775											
OR5K2	402135	broad.mit.edu	37	3	98217292	98217292	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:98217292T>G	ENST00000427338.1	+	1	845	c.768T>G	c.(766-768)ttT>ttG	p.F256L	CLDND1_ENST00000502288.1_Intron	NM_001004737.1	NP_001004737.1	Q8NHB8	OR5K2_HUMAN	olfactory receptor, family 5, subfamily K, member 2	256					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(1)|lung(10)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						GATCTATTTTTTTCCTATACA	0.333													4	62					0	0	1	0	0	G	98217292	T	G	98217292	3	3	81	1	0	0	0	0	1	0	0	0	11214	1838	64	5	770	5	OR5K2	3	98217292	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	28343	98217292	99805138	3160	6776											
GPR15	2838	broad.mit.edu	37	3	98251792	98251792	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:98251792C>T	ENST00000284311.3	+	1	1050	c.915C>T	c.(913-915)ttC>ttT	p.F305F		NM_005290.1	NP_005281.1	P49685	GPR15_HUMAN	G protein-coupled receptor 15	305						integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Lung NSC(201;7.93e-06)|all_neural(597;0.00172)|Hepatocellular(537;0.00825)|Myeloproliferative disorder(1037;0.0255)		Lung(72;0.246)		ACTATATCTTCGACAGCTACA	0.473													25	46					0	0	1	0	0	T	98251792	C	T	98251792	2	4	81	1	0	0	0	0	0	0	0	1	6695	883	31	1		1	GPR15	3	98251792	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	34500	98251792	99770638	3161	6777											
ST3GAL6	10402	broad.mit.edu	37	3	98506939	98506939	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:98506939G>A	ENST00000265261.6	+	7	559	c.137G>A	c.(136-138)cGa>cAa	p.R46Q	ST3GAL6_ENST00000462152.1_3'UTR|ST3GAL6_ENST00000394162.1_Missense_Mutation_p.R164Q|ST3GAL6_ENST00000483910.1_Missense_Mutation_p.R164Q	NM_001271142.1|NM_001271147.1	NP_001258071.1|NP_001258076.1	Q9Y274	SIA10_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 6	164					amino sugar metabolic process|glycolipid metabolic process|protein glycosylation|protein lipoylation	integral to Golgi membrane	sialyltransferase activity			breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(1)	19						ACAACCTTCCGACTTTTTTAT	0.383													15	32					0	0	1	0	0	A	98506939	G	A	98506939	3	1	81	1	0	0	0	0	1	0	0	0	15275	1058	37	1	513	1	ST3GAL6	3	98506939	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	255147	98506939	99515491	3162	6778											
DCBLD2	131566	broad.mit.edu	37	3	98518429	98518429	+	Frame_Shift_Del	DEL	C	C	-	rs141432727	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:98518429delC	ENST00000326840.6	-	16	2477	c.2115delG	c.(2113-2115)gggfs	p.G705fs	DCBLD2_ENST00000326857.9_Frame_Shift_Del_p.G719fs	NM_080927.3	NP_563615.3	Q96PD2	DCBD2_HUMAN	discoidin, CUB and LCCL domain containing 2	705					cell adhesion|intracellular receptor mediated signaling pathway|negative regulation of cell growth|wound healing	cell surface|integral to plasma membrane				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|stomach(2)	25						GAGGTTGGTTCCCCGTAGCCT	0.552													10	113	---	---	---	---						-	98518429	C	-	98518429	7	5	81	1	0	1	0	1	0	0	0	0	4304	842	30	0	216	0	DCBLD2	3	98518429	Frame_Shift_Del	DEL	C	TCGA-DU-6392-01A-11D-1705-08	11490	98518429	99504001	3163	6779											
DCBLD2	131566	broad.mit.edu	37	3	98519468	98519468	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:98519468G>T	ENST00000326840.6	-	15	2175	c.1813C>A	c.(1813-1815)Ctg>Atg	p.L605M	DCBLD2_ENST00000326857.9_Missense_Mutation_p.L619M	NM_080927.3	NP_563615.3	Q96PD2	DCBD2_HUMAN	discoidin, CUB and LCCL domain containing 2	605					cell adhesion|intracellular receptor mediated signaling pathway|negative regulation of cell growth|wound healing	cell surface|integral to plasma membrane				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|stomach(2)	25						CTTGGACTCAGGTGATTAACT	0.502													8	116					0.0477658	0.0487066	1	1	0	T	98519468	G	T	98519468	3	4	81	1	0	0	0	0	1	0	0	0	4304	991	35	4	522	4	DCBLD2	3	98519468	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1039	98519468	99502962	3164	6780											
DCBLD2	131566	broad.mit.edu	37	3	98600529	98600529	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:98600529G>A	ENST00000326840.6	-	2	650	c.288C>T	c.(286-288)agC>agT	p.S96S	DCBLD2_ENST00000326857.9_Silent_p.S96S|DCBLD2_ENST00000469648.1_Intron	NM_080927.3	NP_563615.3	Q96PD2	DCBD2_HUMAN	discoidin, CUB and LCCL domain containing 2	96	CUB.				cell adhesion|intracellular receptor mediated signaling pathway|negative regulation of cell growth|wound healing	cell surface|integral to plasma membrane				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|stomach(2)	25						CACAAACAGTGCTGTTGGGAT	0.413													53	91					0	0	1	0	0	A	98600529	G	A	98600529	2	1	81	1	0	0	0	0	0	0	0	1	4304	1310	46	2		2	DCBLD2	3	98600529	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	81061	98600529	99421901	3165	6781											
TBC1D23	55773	broad.mit.edu	37	3	100015051	100015051	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:100015051G>T	ENST00000394144.4	+	8	815	c.808G>T	c.(808-810)Gaa>Taa	p.E270*	TBC1D23_ENST00000486274.1_3'UTR|TBC1D23_ENST00000475134.1_Nonsense_Mutation_p.E133*|TBC1D23_ENST00000344949.5_Nonsense_Mutation_p.E270*	NM_001199198.2	NP_001186127.1	Q9NUY8	TBC23_HUMAN	TBC1 domain family, member 23	270						intracellular	Rab GTPase activator activity			breast(1)|endometrium(1)|large_intestine(7)|liver(1)|lung(10)|ovary(1)|prostate(2)|skin(2)	25						TCTGAATATAGAAGATATAGA	0.323													26	57					2.70662e-09	3.26459e-09	1	1	0	T	100015051	G	T	100015051	4	4	81	1	0	0	0	0	0	1	0	0	15670	943	33	4	838	4	TBC1D23	3	100015051	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1414522	100015051	98007379	3166	6782											
NIT2	56954	broad.mit.edu	37	3	100057992	100057992	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:100057992C>T	ENST00000394140.4	+	2	160	c.69C>T	c.(67-69)cgC>cgT	p.R23R		NM_020202.4	NP_064587.1	Q9NQR4	NIT2_HUMAN	nitrilase family, member 2		CN hydrolase.				nitrogen compound metabolic process		omega-amidase activity			breast(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(1)	17						ACGTCACTCGCGCTTGTAGCT	0.483													48	152					0	0	1	0	0	T	100057992	C	T	100057992	2	4	81	1	0	0	0	0	0	0	0	1	10481	755	27	1		1	NIT2	3	100057992	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	42941	100057992	97964438	3167	6783											
NIT2	56954	broad.mit.edu	37	3	100058021	100058021	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:100058021C>T	ENST00000394140.4	+	2	189	c.98C>T	c.(97-99)aCg>aTg	p.T33M		NM_020202.4	NP_064587.1	Q9NQR4	NIT2_HUMAN	nitrilase family, member 2		CN hydrolase.				nitrogen compound metabolic process		omega-amidase activity			breast(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(1)	17						GAGGCAGCAACGCAAGGAGCC	0.502													14	144					0	0	1	0	0	T	100058021	C	T	100058021	3	4	81	1	0	0	0	0	1	0	0	0	10481	536	19	1	104	1	NIT2	3	100058021	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	29	100058021	97964409	3168	6784											
NIT2	56954	broad.mit.edu	37	3	100058042	100058042	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:100058042C>A	ENST00000394140.4	+	2	210	c.119C>A	c.(118-120)tCt>tAt	p.S40Y		NM_020202.4	NP_064587.1	Q9NQR4	NIT2_HUMAN	nitrilase family, member 2		CN hydrolase.				nitrogen compound metabolic process		omega-amidase activity			breast(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(1)	17						AAAATAGTTTCTTTGCCGGTC	0.512													43	77					1.8453e-21	2.41717e-21	1	1	0	A	100058042	C	A	100058042	3	1	81	1	0	0	0	0	1	0	0	0	10481	913	32	4	125	4	NIT2	3	100058042	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	21	100058042	97964388	3169	6785											
GPR128	84873	broad.mit.edu	37	3	100365443	100365443	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:100365443T>C	ENST00000273352.3	+	10	1409	c.1141T>C	c.(1141-1143)Tat>Cat	p.Y381H	GPR128_ENST00000475887.1_Missense_Mutation_p.Y86H	NM_032787.2	NP_116176.2	Q96K78	GP128_HUMAN	G protein-coupled receptor 128	381	GPS.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						ACTCTATTCCTATGCCTGTGT	0.378													5	43					0	0	1	0	0	C	100365443	T	C	100365443	3	2	81	1	0	0	0	0	1	0	0	0	6681	1522	53	3	1179	3	GPR128	3	100365443	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	307401	100365443	97656987	3170	6786											
GPR128	84873	broad.mit.edu	37	3	100365530	100365530	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:100365530T>C	ENST00000273352.3	+	10	1496	c.1228T>C	c.(1228-1230)Tgc>Cgc	p.C410R	GPR128_ENST00000475887.1_Missense_Mutation_p.C115R	NM_032787.2	NP_116176.2	Q96K78	GP128_HUMAN	G protein-coupled receptor 128	410	GPS.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						ATTCCTGCGCTGCCGCTGCAA	0.408													11	46					0	0	1	0	0	C	100365530	T	C	100365530	3	2	81	1	0	0	0	0	1	0	0	0	6681	1580	55	3	1266	3	GPR128	3	100365530	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	87	100365530	97656900	3171	6787											
GPR128	84873	broad.mit.edu	37	3	100368606	100368606	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:100368606C>A	ENST00000273352.3	+	11	1602	c.1334C>A	c.(1333-1335)tCt>tAt	p.S445Y	GPR128_ENST00000475887.1_Missense_Mutation_p.S150Y	NM_032787.2	NP_116176.2	Q96K78	GP128_HUMAN	G protein-coupled receptor 128	445					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						TGTGCACTGTCTGTTACTGGT	0.348													26	47					1.75199e-13	2.20964e-13	1	1	0	A	100368606	C	A	100368606	3	1	81	1	0	0	0	0	1	0	0	0	6681	913	32	4	1376	4	GPR128	3	100368606	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3076	100368606	97653824	3172	6788											
TFG	10342	broad.mit.edu	37	3	100447624	100447624	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:100447624C>T	ENST00000240851.4	+	4	677	c.337C>T	c.(337-339)Cga>Tga	p.R113*	TFG_ENST00000490574.1_Nonsense_Mutation_p.R113*|TFG_ENST00000418917.2_Nonsense_Mutation_p.R113*|TFG_ENST00000476228.1_Nonsense_Mutation_p.R113*	NM_001195478.1|NM_001195479.1|NM_006070.5	NP_001182407.1|NP_001182408.1|NP_006061.2	Q92734	TFG_HUMAN	TRK-fused gene	113					positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm	signal transducer activity		TFG/NR4A3(2)|TFG/NTRK1_ENST00000392302(5)|TFG/ALK(9)	large_intestine(4)|lung(2)|prostate(1)|stomach(1)	8						GATAGAACTTCGAAATAAAGT	0.378			T	"NTRK1, ALK"	"papillary thyroid, ALCL, NSCLC"								45	54					0	0	1	0	0	T	100447624	C	T	100447624	4	4	81	1	0	0	0	0	0	1	0	0	15866	876	31	1	347	1	TFG	3	100447624	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	79018	100447624	97574806	3173	6789											
TFG	10342	broad.mit.edu	37	3	100455466	100455466	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:100455466C>T	ENST00000240851.4	+	6	967	c.627C>T	c.(625-627)agC>agT	p.S209S	TFG_ENST00000490574.1_Silent_p.S209S|TFG_ENST00000418917.2_Silent_p.S209S|TFG_ENST00000476228.1_Silent_p.S209S	NM_001195478.1|NM_001195479.1|NM_006070.5	NP_001182407.1|NP_001182408.1|NP_006061.2	Q92734	TFG_HUMAN	TRK-fused gene	209					positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm	signal transducer activity		TFG/NR4A3(2)|TFG/NTRK1_ENST00000392302(5)|TFG/ALK(9)	large_intestine(4)|lung(2)|prostate(1)|stomach(1)	8						CACCCGACAGCATTGCTTCCT	0.527			T	"NTRK1, ALK"	"papillary thyroid, ALCL, NSCLC"								17	22					0	0	1	0	0	T	100455466	C	T	100455466	2	4	81	1	0	0	0	0	0	0	0	1	15866	709	25	2		2	TFG	3	100455466	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	7842	100455466	97566964	3174	6790											
ABI3BP	25890	broad.mit.edu	37	3	100489739	100489739	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:100489739G>A	ENST00000471714.1	-	61	4671	c.4562C>T	c.(4561-4563)tCt>tTt	p.S1521F	ABI3BP_ENST00000284322.5_Missense_Mutation_p.S819F|ABI3BP_ENST00000383691.4_Missense_Mutation_p.S773F			Q7Z7G0	TARSH_HUMAN	ABI family, member 3 (NESH) binding protein	819						extracellular space				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						CCGTTTGACAGAGTCAGTAAT	0.532													39	63					0	0	1	0	0	A	100489739	G	A	100489739	3	1	81	1	0	0	0	0	1	0	0	0	91	942	33	2	799	2	ABI3BP	3	100489739	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	34273	100489739	97532691	3175	6791											
ABI3BP	25890	broad.mit.edu	37	3	100489769	100489769	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:100489769G>T	ENST00000471714.1	-	61	4641	c.4532C>A	c.(4531-4533)cCt>cAt	p.P1511H	ABI3BP_ENST00000284322.5_Missense_Mutation_p.P809H|ABI3BP_ENST00000383691.4_Missense_Mutation_p.P763H			Q7Z7G0	TARSH_HUMAN	ABI family, member 3 (NESH) binding protein	809						extracellular space				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						ACTGTTGTCAGGCTTTTGGAT	0.488													6	80					3.59834e-05	3.99423e-05	1	1	0	T	100489769	G	T	100489769	3	4	81	1	0	0	0	0	1	0	0	0	91	1000	35	4	829	4	ABI3BP	3	100489769	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	30	100489769	97532661	3176	6792											
ABI3BP	25890	broad.mit.edu	37	3	100617649	100617649	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:100617649G>A	ENST00000471714.1	-	4	548	c.439C>T	c.(439-441)Cca>Tca	p.P147S	ABI3BP_ENST00000284322.5_Missense_Mutation_p.P147S|ABI3BP_ENST00000495063.1_Missense_Mutation_p.P147S			Q7Z7G0	TARSH_HUMAN	ABI family, member 3 (NESH) binding protein	147	Fibronectin type-III 1.					extracellular space				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						TCATGGTGTGGGTTGATGAGG	0.473													37	34					0	0	1	0	0	A	100617649	G	A	100617649	3	1	81	1	0	0	0	0	1	0	0	0	91	1232	43	2	2916	2	ABI3BP	3	100617649	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	127880	100617649	97404781	3177	6793											
ZBTB11	27107	broad.mit.edu	37	3	101370464	101370464	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:101370464C>T	ENST00000312938.4	-	11	3288	c.2708G>A	c.(2707-2709)cGc>cAc	p.R903H		NM_014415.3	NP_055230.2	O95625	ZBT11_HUMAN	zinc finger and BTB domain containing 11	903					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R903H(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						TCTGACATGGCGTTTTAGAGA	0.423													5	68					0	0	1	0	0	T	101370464	C	T	101370464	3	4	81	1	0	0	0	0	1	0	0	0	17583	768	27	1	457	1	ZBTB11	3	101370464	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	752815	101370464	96651966	3178	6794											
ZBTB11	27107	broad.mit.edu	37	3	101378786	101378786	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:101378786C>T	ENST00000312938.4	-	6	2467	c.1887G>A	c.(1885-1887)tcG>tcA	p.S629S		NM_014415.3	NP_055230.2	O95625	ZBT11_HUMAN	zinc finger and BTB domain containing 11	629					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						TGGAATTGGACGAGGATGAAG	0.398													26	39					0	0	1	0	0	T	101378786	C	T	101378786	2	4	81	1	0	0	0	0	0	0	0	1	17583	523	19	1		1	ZBTB11	3	101378786	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	8322	101378786	96643644	3179	6795											
ZBTB11	27107	broad.mit.edu	37	3	101383381	101383381	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:101383381C>A	ENST00000312938.4	-	5	2381		c.e5+1			NM_014415.3	NP_055230.2	O95625	ZBT11_HUMAN	zinc finger and BTB domain containing 11						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						CAAATACTTACTGGACATTTG	0.333													7	101					2.7689e-08	3.2887e-08	1	1	0	A	101383381	C	A	101383381	5	1	81	1	0	0	0	0	0	0	1	0	17583	579	20	4	1388	4	ZBTB11	3	101383381	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	4595	101383381	96639049	3180	6796											
ZBTB11	27107	broad.mit.edu	37	3	101383909	101383909	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:101383909G>A	ENST00000312938.4	-	4	2102	c.1522C>T	c.(1522-1524)Cga>Tga	p.R508*		NM_014415.3	NP_055230.2	O95625	ZBT11_HUMAN	zinc finger and BTB domain containing 11	508					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						GAACGTTGTCGAAGCCTGCTT	0.428													64	124					0	0	1	0	0	A	101383909	G	A	101383909	4	1	81	1	0	0	0	0	0	1	0	0	17583	1066	37	1	1671	1	ZBTB11	3	101383909	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	528	101383909	96638521	3181	6797											
CEP97	79598	broad.mit.edu	37	3	101445527	101445527	+	Missense_Mutation	SNP	A	A	G	rs145823858		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:101445527A>G	ENST00000341893.3	+	2	885	c.133A>G	c.(133-135)Aaa>Gaa	p.K45E	CEP97_ENST00000327230.4_Missense_Mutation_p.K45E|CEP97_ENST00000494050.1_Missense_Mutation_p.K45E			Q8IW35	CEP97_HUMAN	centrosomal protein 97kDa	45						centrosome|nucleus	protein binding			cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29						GATTCTGGATAAAAATCAGAT	0.343													4	54					0	0	1	0	0	G	101445527	A	G	101445527	3	3	81	1	0	0	0	0	1	0	0	0	3285	363	13	3	139	3	CEP97	3	101445527	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	61618	101445527	96576903	3182	6798											
CEP97	79598	broad.mit.edu	37	3	101474341	101474341	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:101474341C>T	ENST00000341893.3	+	7	1548	c.796C>T	c.(796-798)Ctt>Ttt	p.L266F	CEP97_ENST00000327230.4_Missense_Mutation_p.L266F|CEP97_ENST00000494050.1_Missense_Mutation_p.L266F			Q8IW35	CEP97_HUMAN	centrosomal protein 97kDa	266						centrosome|nucleus	protein binding			cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29						GCACATCCAGCTTGTCCAATA	0.473													17	36					0	0	1	0	0	T	101474341	C	T	101474341	3	4	81	1	0	0	0	0	1	0	0	0	3285	797	28	2	822	2	CEP97	3	101474341	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	28814	101474341	96548089	3183	6799											
NFKBIZ	64332	broad.mit.edu	37	3	101571607	101571607	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:101571607T>C	ENST00000326172.5	+	3	570	c.455T>C	c.(454-456)tTc>tCc	p.F152S	NFKBIZ_ENST00000326151.5_Missense_Mutation_p.F152S|NFKBIZ_ENST00000394054.2_Missense_Mutation_p.F52S	NM_031419.3	NP_113607.1	Q9BYH8	IKBZ_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, zeta	152					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24						ATAGAACAGTTCAGAGGTAAG	0.289													4	71					0	0	1	0	0	C	101571607	T	C	101571607	3	2	81	1	0	0	0	0	1	0	0	0	10430	1783	62	3	465	3	NFKBIZ	3	101571607	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	97266	101571607	96450823	3184	6800											
NFKBIZ	64332	broad.mit.edu	37	3	101572669	101572669	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:101572669C>T	ENST00000326172.5	+	5	1414	c.1299C>T	c.(1297-1299)tcC>tcT	p.S433S	NFKBIZ_ENST00000326151.5_Silent_p.S311S|NFKBIZ_ENST00000394054.2_Silent_p.S333S	NM_031419.3	NP_113607.1	Q9BYH8	IKBZ_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, zeta	433	Interaction with NFKB1/p50 (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24						CAAATATTTCCCAAGACCAGT	0.408													19	37					0	0	1	0	0	T	101572669	C	T	101572669	2	4	81	1	0	0	0	0	0	0	0	1	10430	610	22	2		2	NFKBIZ	3	101572669	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1062	101572669	96449761	3185	6801											
ALCAM	214	broad.mit.edu	37	3	105253607	105253607	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:105253607G>A	ENST00000306107.5	+	6	1148	c.648G>A	c.(646-648)atG>atA	p.M216I	ALCAM_ENST00000486979.2_Missense_Mutation_p.M165I|ALCAM_ENST00000389927.4_Missense_Mutation_p.M25I|ALCAM_ENST00000472644.2_Missense_Mutation_p.M216I|ALCAM_ENST00000481337.1_3'UTR	NM_001627.3	NP_001618.2	Q13740	CD166_HUMAN	activated leukocyte cell adhesion molecule	216	Ig-like V-type 2.				cell adhesion|signal transduction	integral to membrane	receptor binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						ACATACAAATGCCATTCACCT	0.398													42	77					0	0	1	0	0	A	105253607	G	A	105253607	3	1	81	1	0	0	0	0	1	0	0	0	484	1319	46	2	670	2	ALCAM	3	105253607	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	3680938	105253607	92768823	3186	6802											
ALCAM	214	broad.mit.edu	37	3	105264032	105264032	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:105264032G>A	ENST00000481337.1	+	10	1120		c.e10-1		ALCAM_ENST00000486979.2_Intron|ALCAM_ENST00000389927.4_Intron|ALCAM_ENST00000472644.2_Intron|ALCAM_ENST00000306107.5_Intron			Q13740	CD166_HUMAN	activated leukocyte cell adhesion molecule						cell adhesion|signal transduction	integral to membrane	receptor binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						TTACATTTCAGAGTTAGCACT	0.343													16	15					0	0	1	0	0	A	105264032	G	A	105264032	5	1	81	1	0	0	0	0	0	0	1	0	484	957	33	2		2	ALCAM	3	105264032	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	10425	105264032	92758398	3187	6803											
CBLB	868	broad.mit.edu	37	3	105389183	105389183	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:105389183A>G	ENST00000264122.4	-	18	2904	c.2583T>C	c.(2581-2583)gaT>gaC	p.D861D	CBLB_ENST00000394027.3_Silent_p.D839D|CBLB_ENST00000407712.1_Silent_p.D76D	NM_170662.3	NP_733762.2	Q13191	CBLB_HUMAN	Cbl proto-oncogene B, E3 ubiquitin protein ligase	861	Pro-rich.				cell surface receptor linked signaling pathway|NLS-bearing substrate import into nucleus	cytoplasm|nucleus	calcium ion binding|ligase activity|signal transducer activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2)	49						CACTTGCTAGATCAACAAAGG	0.343			Mis S		AML								16	27					0	0	1	0	0	G	105389183	A	G	105389183	2	3	81	1	0	0	0	0	0	0	0	1	2719	330	12	3		3	CBLB	3	105389183	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	125151	105389183	92633247	3188	6804											
CCDC54	84692	broad.mit.edu	37	3	107096457	107096457	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:107096457G>T	ENST00000261058.1	+	1	270	c.23G>T	c.(22-24)aGg>aTg	p.R8M		NM_032600.2	NP_115989.1	Q8NEL0	CCD54_HUMAN	coiled-coil domain containing 54	8										NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	19						CACACCAAAAGGGTAAAAGCT	0.398													15	68					1.62849e-17	2.10263e-17	1	1	0	T	107096457	G	T	107096457	3	4	81	1	0	0	0	0	1	0	0	0	2844	1000	35	4	25	4	CCDC54	3	107096457	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1707274	107096457	90925973	3189	6805											
HHLA2	11148	broad.mit.edu	37	3	108074138	108074138	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:108074138C>G	ENST00000357759.5	+	5	1009	c.595C>G	c.(595-597)Ctg>Gtg	p.L199V	HHLA2_ENST00000467562.1_Missense_Mutation_p.L135V|HHLA2_ENST00000489514.2_Missense_Mutation_p.L199V|HHLA2_ENST00000467761.1_Missense_Mutation_p.L199V|HHLA2_ENST00000491820.1_Missense_Mutation_p.L199V	NM_007072.2	NP_009003.1	Q9UM44	HHLA2_HUMAN	HERV-H LTR-associating 2	199	Ig-like C1-type.					integral to membrane				endometrium(2)|large_intestine(1)|lung(14)|ovary(1)	18						TAACAGCCCACTGAATATTAC	0.403													19	31					0	0	1	0	0	G	108074138	C	G	108074138	3	3	81	1	0	0	0	0	1	0	0	0	7136	564	20	4	605	4	HHLA2	3	108074138	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	977681	108074138	89948292	3190	6806											
MYH15	22989	broad.mit.edu	37	3	108181966	108181966	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:108181966G>T	ENST00000273353.3	-	17	1972	c.1916C>A	c.(1915-1917)aCt>aAt	p.T639N		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	639	Myosin head-like.					myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						ACCACTGTCAGTACTCATGTA	0.418													41	93					1.00001e-27	1.32875e-27	1	1	0	T	108181966	G	T	108181966	3	4	81	1	0	0	0	0	1	0	0	0	10082	1029	36	4	4028	4	MYH15	3	108181966	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	107828	108181966	89840464	3191	6807											
DZIP3	9666	broad.mit.edu	37	3	108363603	108363603	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:108363603G>T	ENST00000361582.3	+	14	1964	c.1734G>T	c.(1732-1734)caG>caT	p.Q578H	DZIP3_ENST00000463306.1_Missense_Mutation_p.Q578H	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN	DAZ interacting zinc finger protein 3	578					protein polyubiquitination	cytoplasm	polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						AAATCATACAGAGGATGTTAT	0.398													6	76					4.096e-09	4.9227e-09	1	1	0	T	108363603	G	T	108363603	3	4	81	1	0	0	0	0	1	0	0	0	4891	933	33	4	1784	4	DZIP3	3	108363603	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	181637	108363603	89658827	3192	6808											
DZIP3	9666	broad.mit.edu	37	3	108366851	108366851	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:108366851C>T	ENST00000361582.3	+	16	2084	c.1854C>T	c.(1852-1854)taC>taT	p.Y618Y	DZIP3_ENST00000463306.1_Silent_p.Y618Y	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN	DAZ interacting zinc finger protein 3	618					protein polyubiquitination	cytoplasm	polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						TCATGGAGTACAATATAAATG	0.333													12	103					0	0	1	0	0	T	108366851	C	T	108366851	2	4	81	1	0	0	0	0	0	0	0	1	4891	489	17	2		2	DZIP3	3	108366851	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3248	108366851	89655579	3193	6809											
DPPA2	151871	broad.mit.edu	37	3	109027001	109027001	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:109027001G>T	ENST00000478945.1	-	6	782	c.536C>A	c.(535-537)aCt>aAt	p.T179N		NM_138815.3	NP_620170.3	Q7Z7J5	DPPA2_HUMAN	developmental pluripotency associated 2	179						nucleus	nucleic acid binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CGGTGCTGAAGTTATCACTTC	0.463													36	71					1.15183e-24	1.52145e-24	1	1	0	T	109027001	G	T	109027001	3	4	81	1	0	0	0	0	1	0	0	0	4760	1029	36	4	372	4	DPPA2	3	109027001	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	660150	109027001	88995429	3194	6810											
PHLDB2	90102	broad.mit.edu	37	3	111632216	111632216	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:111632216G>A	ENST00000431670.2	+	3	1797	c.1386G>A	c.(1384-1386)aaG>aaA	p.K462K	PHLDB2_ENST00000393925.3_Silent_p.K462K|PHLDB2_ENST00000481953.1_Silent_p.K462K|PHLDB2_ENST00000495180.1_Silent_p.K48K|PHLDB2_ENST00000393923.3_Silent_p.K489K|PHLDB2_ENST00000412622.1_Silent_p.K462K|PHLDB2_ENST00000477695.1_Silent_p.K462K	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	462						cytoplasm|intermediate filament cytoskeleton|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						AATACACAAAGCCTGACAGTC	0.512													69	53					0	0	1	0	0	A	111632216	G	A	111632216	2	1	81	1	0	0	0	0	0	0	0	1	11900	962	34	2		2	PHLDB2	3	111632216	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2605215	111632216	86390214	3195	6811											
ABHD10	55347	broad.mit.edu	37	3	111697940	111697940	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:111697940C>T	ENST00000273359.3	+	1	59	c.32C>T	c.(31-33)gCc>gTc	p.A11V	ABHD10_ENST00000534857.1_5'UTR|ABHD10_ENST00000494817.1_Missense_Mutation_p.A11V	NM_018394.2	NP_060864.1	Q9NUJ1	ABHDA_HUMAN	abhydrolase domain containing 10	11						mitochondrion	serine-type peptidase activity			large_intestine(2)|lung(7)|skin(1)	10						GCTGTGGCGGCCTGGGTACCT	0.687													6	14					0	0	1	0	0	T	111697940	C	T	111697940	3	4	81	1	0	0	0	0	1	0	0	0	74	739	26	2	34	2	ABHD10	3	111697940	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	65724	111697940	86324490	3196	6812											
TAGLN3	29114	broad.mit.edu	37	3	111732374	111732374	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:111732374C>T	ENST00000393917.2	+	5	1128	c.576C>T	c.(574-576)taC>taT	p.Y192Y	TAGLN3_ENST00000273368.4_Silent_p.Y192Y|TAGLN3_ENST00000478951.1_Silent_p.Y192Y|TAGLN3_ENST00000486460.1_Silent_p.Y108Y|TAGLN3_ENST00000455401.2_Silent_p.Y192Y	NM_013259.2	NP_037391.2	Q9UI15	TAGL3_HUMAN	transgelin 3	192					central nervous system development|muscle organ development					endometrium(2)|lung(5)|urinary_tract(1)	8						TGACAGGGTACGGGATGCCCA	0.567											OREG0015708	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	25	41					0	0	1	0	0	T	111732374	C	T	111732374	2	4	81	1	0	0	0	0	0	0	0	1	15597	547	19	1		1	TAGLN3	3	111732374	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	34434	111732374	86290056	3197	6813											
TMPRSS7	344805	broad.mit.edu	37	3	111766665	111766665	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:111766665G>A	ENST00000452346.2	+	7	813	c.810G>A	c.(808-810)agG>agA	p.R270R	TMPRSS7_ENST00000419127.1_Silent_p.R144R			Q7RTY8	TMPS7_HUMAN	transmembrane protease, serine 7	270	CUB 1.				proteolysis	integral to membrane|plasma membrane	serine-type endopeptidase activity			breast(2)|endometrium(6)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						CCTCAGGGAGGCTGATGTGTC	0.517													16	22					0	0	1	0	0	A	111766665	G	A	111766665	2	1	81	1	0	0	0	0	0	0	0	1	16312	1194	42	2		2	TMPRSS7	3	111766665	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	34291	111766665	86255765	3198	6814											
TMPRSS7	344805	broad.mit.edu	37	3	111782478	111782478	+	Splice_Site	SNP	C	C	T	rs150107555	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:111782478C>T	ENST00000452346.2	+	12	1557	c.1554C>T	c.(1552-1554)tgC>tgT	p.C518C	TMPRSS7_ENST00000419127.1_Splice_Site_p.C392C			Q7RTY8	TMPS7_HUMAN	transmembrane protease, serine 7	518	LDL-receptor class A 1.|LDL-receptor class A 2.				proteolysis	integral to membrane|plasma membrane	serine-type endopeptidase activity			breast(2)|endometrium(6)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						AACTGTTTTGCGGTGGGTATT	0.378													60	80					0	0	1	0	0	T	111782478	C	T	111782478	5	4	81	1	0	0	0	0	0	0	1	0	16312	782	27	1	1210	1	TMPRSS7	3	111782478	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	15813	111782478	86239952	3199	6815											
BTLA	151888	broad.mit.edu	37	3	112198487	112198487	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:112198487T>C	ENST00000334529.5	-	2	420	c.218A>G	c.(217-219)aAg>aGg	p.K73R	BTLA_ENST00000383680.4_Missense_Mutation_p.K73R	NM_181780.3	NP_861445	Q7Z6A9	BTLA_HUMAN	B and T lymphocyte associated	73	Ig-like V-type.				T cell costimulation		receptor activity			breast(1)|central_nervous_system(1)|cervix(2)|large_intestine(1)|lung(5)|prostate(1)	11		Acute lymphoblastic leukemia(4;1.34e-07)|all_hematologic(4;0.000361)				TCCATTGAGCTTGCACCAAGT	0.388													9	110					0	0	1	0	0	C	112198487	T	C	112198487	3	2	81	1	0	0	0	0	1	0	0	0	1561	1609	56	3	667	3	BTLA	3	112198487	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	416009	112198487	85823943	3200	6816											
CCDC80	151887	broad.mit.edu	37	3	112337934	112337934	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:112337934G>A	ENST00000206423.3	-	4	3006	c.2053C>T	c.(2053-2055)Cga>Tga	p.R685*	CCDC80_ENST00000439685.2_Nonsense_Mutation_p.R685*	NM_199511.1|NM_199512.1	NP_955805.1|NP_955806.1	Q76M96	CCD80_HUMAN	coiled-coil domain containing 80	685										breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4)	51						TCCACCACTCGCATGGGCTTC	0.463													6	36					0	0	1	0	0	A	112337934	G	A	112337934	4	1	81	1	0	0	0	0	0	1	0	0	2874	1095	38	1	819	1	CCDC80	3	112337934	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	139447	112337934	85684496	3201	6817											
CCDC80	151887	broad.mit.edu	37	3	112357981	112357981	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:112357981A>G	ENST00000206423.3	-	2	1725	c.772T>C	c.(772-774)Tac>Cac	p.Y258H	CCDC80_ENST00000439685.2_Missense_Mutation_p.Y258H	NM_199511.1|NM_199512.1	NP_955805.1|NP_955806.1	Q76M96	CCD80_HUMAN	coiled-coil domain containing 80	258										breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4)	51						ATGACCTCGTACATGGCTTCC	0.557													4	85					0	0	1	0	0	G	112357981	A	G	112357981	3	3	81	1	0	0	0	0	1	0	0	0	2874	391	14	3	2108	3	CCDC80	3	112357981	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	20047	112357981	85664449	3202	6818											
C3orf17	25871	broad.mit.edu	37	3	112732162	112732162	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:112732162T>C	ENST00000314400.5	-	4	621	c.430A>G	c.(430-432)Aag>Gag	p.K144E	C3orf17_ENST00000383675.2_Intron|C3orf17_ENST00000393857.2_Missense_Mutation_p.K8E	NM_015412.3	NP_056227.2	Q6NW34	CC017_HUMAN	chromosome 3 open reading frame 17	144						integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(2)|lung(6)|prostate(2)|skin(1)	13						AGCAACAACTTGCAGGCTCCC	0.398													18	63					0	0	1	0	0	C	112732162	T	C	112732162	3	2	81	1	0	0	0	0	1	0	0	0	2224	1821	63	3	1297	3	C3orf17	3	112732162	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	374181	112732162	85290268	3203	6819											
BOC	91653	broad.mit.edu	37	3	113002407	113002407	+	Missense_Mutation	SNP	G	G	A	rs148702312	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:113002407G>A	ENST00000495514.1	+	16	3285	c.2581G>A	c.(2581-2583)Gtc>Atc	p.V861I	BOC_ENST00000355385.3_Missense_Mutation_p.V861I|BOC_ENST00000273395.4_Missense_Mutation_p.V862I			Q9BWV1	BOC_HUMAN	BOC cell adhesion associated, oncogene regulated	861					cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation	integral to membrane|plasma membrane	protein binding	p.V861I(1)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	68			Epithelial(53;0.227)			TGTCGGGGTCGTCCTGGGCTC	0.612													27	56					0	0	1	0	0	A	113002407	G	A	113002407	3	1	81	1	0	0	0	0	1	0	0	0	1480	1145	40	1	2635	1	BOC	3	113002407	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	270245	113002407	85020023	3204	6820											
KIAA2018	205717	broad.mit.edu	37	3	113377544	113377544	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:113377544G>T	ENST00000316407.4	-	7	3395	c.2985C>A	c.(2983-2985)acC>acA	p.T995T	KIAA2018_ENST00000491165.1_Intron|KIAA2018_ENST00000478658.1_Silent_p.T995T	NM_001009899.2	NP_001009899.2	Q68DE3	K2018_HUMAN	KIAA2018	995					regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						AGAGACCTGTGGTTTGCATTG	0.388													13	134					3.27435e-08	3.88014e-08	1	1	0	T	113377544	G	T	113377544	2	4	81	1	0	0	0	0	0	0	0	1	8310	1335	47	5		5	KIAA2018	3	113377544	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	375137	113377544	84644886	3205	6821											
KIAA2018	205717	broad.mit.edu	37	3	113378522	113378522	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:113378522C>A	ENST00000316407.4	-	7	2417	c.2007G>T	c.(2005-2007)caG>caT	p.Q669H	KIAA2018_ENST00000491165.1_Intron|KIAA2018_ENST00000478658.1_Missense_Mutation_p.Q669H	NM_001009899.2	NP_001009899.2	Q68DE3	K2018_HUMAN	KIAA2018	669					regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						AAGCAAAGAGCTGTCCATTTA	0.398													51	78					2.27781e-18	2.95383e-18	1	1	0	A	113378522	C	A	113378522	3	1	81	1	0	0	0	0	1	0	0	0	8310	796	28	4	4734	4	KIAA2018	3	113378522	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	978	113378522	84643908	3206	6822											
KIAA2018	205717	broad.mit.edu	37	3	113379797	113379797	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:113379797G>A	ENST00000316407.4	-	7	1142	c.732C>T	c.(730-732)agC>agT	p.S244S	KIAA2018_ENST00000491165.1_Intron|KIAA2018_ENST00000478658.1_Silent_p.S244S	NM_001009899.2	NP_001009899.2	Q68DE3	K2018_HUMAN	KIAA2018	244					regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						CATTTGATTCGCTTTCAGAGG	0.473													18	20					0	0	1	0	0	A	113379797	G	A	113379797	2	1	81	1	0	0	0	0	0	0	0	1	8310	1078	38	1		1	KIAA2018	3	113379797	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1275	113379797	84642633	3207	6823											
ATP6V1A	523	broad.mit.edu	37	3	113517137	113517137	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:113517137C>A	ENST00000273398.3	+	12	1446	c.1338C>A	c.(1336-1338)ccC>ccA	p.P446P	ATP6V1A_ENST00000538620.1_Silent_p.P413P	NM_001690.3	NP_001681.2	P38606	VATA_HUMAN	ATPase, H+ transporting, lysosomal 70kDa, V1 subunit A	446					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|integral to plasma membrane|proton-transporting V-type ATPase, V1 domain	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						AGCATTTCCCCTCTGTCAATT	0.393													17	170					1.78486e-19	2.32457e-19	1	1	0	A	113517137	C	A	113517137	2	1	81	1	0	0	0	0	0	0	0	1	1175	668	24	4		4	ATP6V1A	3	113517137	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	137340	113517137	84505293	3208	6824											
GRAMD1C	54762	broad.mit.edu	37	3	113652376	113652376	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:113652376C>T	ENST00000358160.4	+	12	1720	c.1228C>T	c.(1228-1230)Cgg>Tgg	p.R410W	GRAMD1C_ENST00000479212.1_3'UTR|GRAMD1C_ENST00000440446.2_Missense_Mutation_p.R205W|GRAMD1C_ENST00000452134.2_Missense_Mutation_p.R139W|GRAMD1C_ENST00000472026.1_Missense_Mutation_p.R243W	NM_017577.4	NP_060047.3	Q8IYS0	GRM1C_HUMAN	GRAM domain containing 1C	410						integral to membrane				NS(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	26						TAAAGAAAGTCGGGAAGCACG	0.338													7	106					0	0	1	0	0	T	113652376	C	T	113652376	3	4	81	1	0	0	0	0	1	0	0	0	6790	875	31	1	1274	1	GRAMD1C	3	113652376	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	135239	113652376	84370054	3209	6825											
GRAMD1C	54762	broad.mit.edu	37	3	113655184	113655184	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:113655184C>T	ENST00000358160.4	+	14	2020	c.1528C>T	c.(1528-1530)Cga>Tga	p.R510*	GRAMD1C_ENST00000479212.1_3'UTR|GRAMD1C_ENST00000440446.2_Nonsense_Mutation_p.R305*|GRAMD1C_ENST00000452134.2_Nonsense_Mutation_p.R239*|GRAMD1C_ENST00000472026.1_Nonsense_Mutation_p.R343*	NM_017577.4	NP_060047.3	Q8IYS0	GRM1C_HUMAN	GRAM domain containing 1C	510						integral to membrane				NS(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	26						TACTGGCCTACGAAGGAGAAG	0.393													25	51					0	0	1	0	0	T	113655184	C	T	113655184	4	4	81	1	0	0	0	0	0	1	0	0	6790	528	19	1	1582	1	GRAMD1C	3	113655184	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2808	113655184	84367246	3210	6826											
ZDHHC23	254887	broad.mit.edu	37	3	113673059	113673059	+	Missense_Mutation	SNP	C	C	A	rs147787442		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:113673059C>A	ENST00000330212.3	+	3	973	c.674C>A	c.(673-675)cCt>cAt	p.P225H	ZDHHC23_ENST00000498275.1_Missense_Mutation_p.P219H	NM_173570.3	NP_775841.2	Q8IYP9	ZDH23_HUMAN	zinc finger, DHHC-type containing 23	225						integral to membrane	acyltransferase activity|zinc ion binding	p.P225L(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|urinary_tract(2)	16						AAAGGGTTCCCTGGGGCAGAC	0.572													14	118					2.32078e-09	2.80257e-09	1	1	0	A	113673059	C	A	113673059	3	1	81	1	0	0	0	0	1	0	0	0	17672	681	24	4	680	4	ZDHHC23	3	113673059	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	17875	113673059	84349371	3211	6827											
KIAA1407	57577	broad.mit.edu	37	3	113684177	113684177	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:113684177C>T	ENST00000295878.3	-	17	2782	c.2636G>A	c.(2635-2637)tGg>tAg	p.W879*		NM_020817.1	NP_065868.1	Q8NCU4	K1407_HUMAN	KIAA1407	879										endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						AAACTTCTTCCATGTCCGAAG	0.373													10	106					0	0	1	0	0	T	113684177	C	T	113684177	4	4	81	1	0	0	0	0	0	1	0	0	8271	595	21	2	178	2	KIAA1407	3	113684177	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	11118	113684177	84338253	3212	6828											
KIAA1407	57577	broad.mit.edu	37	3	113697048	113697048	+	Missense_Mutation	SNP	G	G	A	rs145062166	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:113697048G>A	ENST00000295878.3	-	16	2737	c.2591C>T	c.(2590-2592)gCg>gTg	p.A864V		NM_020817.1	NP_065868.1	Q8NCU4	K1407_HUMAN	KIAA1407	864										endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						ACTGTGCTCCGCTGCAATCTC	0.423													30	56					0	0	1	0	0	A	113697048	G	A	113697048	3	1	81	1	0	0	0	0	1	0	0	0	8271	1087	38	1	227	1	KIAA1407	3	113697048	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	12871	113697048	84325382	3213	6829											
DRD3	1814	broad.mit.edu	37	3	113866319	113866319	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:113866319C>T	ENST00000383673.2	-	4	899	c.469G>A	c.(469-471)Gtc>Atc	p.V157I	DRD3_ENST00000467632.1_Missense_Mutation_p.V157I|DRD3_ENST00000295881.7_Missense_Mutation_p.V157I|DRD3_ENST00000460779.1_Missense_Mutation_p.V157I	NM_000796.3	NP_000787.2	P35462	DRD3_HUMAN	dopamine receptor D3	157					activation of adenylate cyclase activity by dopamine receptor signaling pathway|arachidonic acid secretion|behavioral response to cocaine|cellular calcium ion homeostasis|circadian regulation of gene expression|G-protein coupled receptor internalization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|locomotory behavior|musculoskeletal movement, spinal reflex action|negative regulation of blood pressure|negative regulation of oligodendrocyte differentiation|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|positive regulation of dopamine receptor signaling pathway|positive regulation of mitosis|prepulse inhibition|regulation of dopamine secretion|response to drug|response to histamine|response to morphine|social behavior|visual learning	integral to plasma membrane	dopamine D3 receptor activity|drug binding			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)	36					Apomorphine(DB00714)|Chlorprothixene(DB01239)|Cocaine(DB00907)|Methotrimeprazine(DB01403)|Olanzapine(DB00334)|Pramipexole(DB00413)|Ropinirole(DB00268)|Ziprasidone(DB00246)	AGTACCCAGACGGCCGTGATC	0.542													8	68					0	0	1	0	0	T	113866319	C	T	113866319	3	4	81	1	0	0	0	0	1	0	0	0	4784	536	19	1	749	1	DRD3	3	113866319	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	169271	113866319	84156111	3214	6830											
DRD3	1814	broad.mit.edu	37	3	113890729	113890729	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:113890729G>A	ENST00000383673.2	-	2	541	c.111C>T	c.(109-111)tgC>tgT	p.C37C	DRD3_ENST00000467632.1_Silent_p.C37C|DRD3_ENST00000295881.7_Silent_p.C37C|DRD3_ENST00000460779.1_Silent_p.C37C	NM_000796.3	NP_000787.2	P35462	DRD3_HUMAN	dopamine receptor D3	37					activation of adenylate cyclase activity by dopamine receptor signaling pathway|arachidonic acid secretion|behavioral response to cocaine|cellular calcium ion homeostasis|circadian regulation of gene expression|G-protein coupled receptor internalization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|locomotory behavior|musculoskeletal movement, spinal reflex action|negative regulation of blood pressure|negative regulation of oligodendrocyte differentiation|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|positive regulation of dopamine receptor signaling pathway|positive regulation of mitosis|prepulse inhibition|regulation of dopamine secretion|response to drug|response to histamine|response to morphine|social behavior|visual learning	integral to plasma membrane	dopamine D3 receptor activity|drug binding			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)	36					Apomorphine(DB00714)|Chlorprothixene(DB01239)|Cocaine(DB00907)|Methotrimeprazine(DB01403)|Olanzapine(DB00334)|Pramipexole(DB00413)|Ropinirole(DB00268)|Ziprasidone(DB00246)	GGATGAGCGCGCAGTAGGAGA	0.612													18	18					0	0	1	0	0	A	113890729	G	A	113890729	2	1	81	1	0	0	0	0	0	0	0	1	4784	1079	38	1		1	DRD3	3	113890729	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	24410	113890729	84131701	3215	6831											
ZBTB20	26137	broad.mit.edu	37	3	114070389	114070389	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:114070389A>G	ENST00000462705.1	-	11	1138	c.317T>C	c.(316-318)aTc>aCc	p.I106T	ZBTB20_ENST00000357258.3_Missense_Mutation_p.I106T|ZBTB20_ENST00000393785.2_Missense_Mutation_p.I106T|ZBTB20_ENST00000464560.1_Missense_Mutation_p.I106T|ZBTB20_ENST00000471418.1_Missense_Mutation_p.I106T|ZBTB20_ENST00000481632.1_Missense_Mutation_p.I106T|ZBTB20_ENST00000474710.1_Missense_Mutation_p.I179T	NM_001164343.1	NP_001157815.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	179	BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		GATCTGCAGGATGCTGGCGGC	0.597													5	41					0	0	1	0	0	G	114070389	A	G	114070389	3	3	81	1	0	0	0	0	1	0	0	0	17588	333	12	3	1697	3	ZBTB20	3	114070389	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	179660	114070389	83952041	3216	6832											
LSAMP	4045	broad.mit.edu	37	3	115561378	115561378	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:115561378G>A	ENST00000490035.2	-	5	1196	c.697C>T	c.(697-699)Cga>Tga	p.R233*	LSAMP_ENST00000539563.1_Nonsense_Mutation_p.R230*|LSAMP_ENST00000498645.1_5'UTR	NM_002338.3	NP_002329.2	Q13449	LSAMP_HUMAN	limbic system-associated membrane protein		Ig-like C2-type 3.				cell adhesion|nervous system development	anchored to membrane|plasma membrane				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(4)|lung(14)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31		all_cancers(1;0.00189)|all_epithelial(1;0.0366)|Myeloproliferative disorder(1037;0.17)|all_neural(597;0.208)|Lung NSC(201;0.215)		GBM - Glioblastoma multiforme(114;0.00117)|LUSC - Lung squamous cell carcinoma(41;0.0407)|Lung(219;0.152)		GAAGCTTGTCGTCCTGTGGTG	0.517													11	25					0	0	1	0	0	A	115561378	G	A	115561378	4	1	81	1	0	0	0	0	0	1	0	0	9093	1153	40	1	331	1	LSAMP	3	115561378	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1490989	115561378	82461052	3217	6833											
IGSF11	152404	broad.mit.edu	37	3	118624442	118624442	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:118624442C>T	ENST00000354673.2	-	7	1081		c.e7+1		IGSF11_ENST00000425327.2_Splice_Site|IGSF11_ENST00000491903.1_Splice_Site|IGSF11_ENST00000441144.2_Intron|IGSF11_ENST00000489689.1_Intron|IGSF11_ENST00000393775.2_Splice_Site	NM_152538.2	NP_689751.2	Q5DX21	IGS11_HUMAN	immunoglobulin superfamily, member 11						cell adhesion|regulation of growth	integral to membrane|plasma membrane	receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						CATATGCTTACGTGAAATAAC	0.428													15	94					0	0	1	0	0	T	118624442	C	T	118624442	5	4	81	1	0	0	0	0	0	0	1	0	7642	550	19	1	603	1	IGSF11	3	118624442	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3063064	118624442	79397988	3218	6834											
IGSF11	152404	broad.mit.edu	37	3	118649028	118649028	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:118649028G>A	ENST00000354673.2	-	4	524	c.144C>T	c.(142-144)agC>agT	p.S48S	IGSF11_ENST00000425327.2_Silent_p.S48S|IGSF11_ENST00000459718.1_5'UTR|IGSF11_ENST00000491903.1_Silent_p.S49S|IGSF11_ENST00000441144.2_Silent_p.S48S|IGSF11_ENST00000489689.1_Silent_p.S49S|IGSF11_ENST00000393775.2_Silent_p.S49S	NM_152538.2	NP_689751.2	Q5DX21	IGS11_HUMAN	immunoglobulin superfamily, member 11	49	Ig-like V-type.				cell adhesion|regulation of growth	integral to membrane|plasma membrane	receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						TGAGGGCAGCGCTGGTAGTGA	0.542													36	63					0	0	1	0	0	A	118649028	G	A	118649028	2	1	81	1	0	0	0	0	0	0	0	1	7642	1078	38	1		1	IGSF11	3	118649028	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	24586	118649028	79373402	3219	6835											
B4GALT4	8702	broad.mit.edu	37	3	118935107	118935107	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:118935107G>A	ENST00000467604.1	-	7	1273	c.882C>T	c.(880-882)ggC>ggT	p.G294G	B4GALT4_ENST00000471675.1_Intron|B4GALT4_ENST00000393765.2_Silent_p.G294G|B4GALT4_ENST00000483209.1_Silent_p.G294G|B4GALT4_ENST00000460321.1_5'UTR|B4GALT4_ENST00000359213.3_Silent_p.G294G			O60513	B4GT4_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 4	294					membrane lipid metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	metal ion binding|N-acetyllactosamine synthase activity			breast(2)|endometrium(1)|large_intestine(1)|lung(6)|skin(2)|stomach(2)	14				GBM - Glioblastoma multiforme(114;0.222)	N-Acetyl-D-glucosamine(DB00141)	TCACCTCATTGCCTTTGTCTC	0.453													11	31					0	0	1	0	0	A	118935107	G	A	118935107	2	1	81	1	0	0	0	0	0	0	0	1	1271	1306	46	2		2	B4GALT4	3	118935107	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	286079	118935107	79087323	3220	6836											
ARHGAP31	57514	broad.mit.edu	37	3	119128599	119128599	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:119128599C>T	ENST00000264245.4	+	11	2434	c.1902C>T	c.(1900-1902)gcC>gcT	p.A634A		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	634					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						GGGCCAGAGCCGAAGCTGTGC	0.532													4	8					0	0	1	0	0	T	119128599	C	T	119128599	2	4	81	1	0	0	0	0	0	0	0	1	877	639	23	1		1	ARHGAP31	3	119128599	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	193492	119128599	78893831	3221	6837											
ARHGAP31	57514	broad.mit.edu	37	3	119134498	119134498	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:119134498G>A	ENST00000264245.4	+	12	4254	c.3722G>A	c.(3721-3723)gGg>gAg	p.G1241E		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	1241					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						TCAACCAGTGGGACCACTCAG	0.562													11	18					0	0	1	0	0	A	119134498	G	A	119134498	3	1	81	1	0	0	0	0	1	0	0	0	877	1232	43	2	3768	2	ARHGAP31	3	119134498	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	5899	119134498	78887932	3222	6838											
TMEM39A	55254	broad.mit.edu	37	3	119176890	119176890	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:119176890T>G	ENST00000319172.5	-	3	731	c.311A>C	c.(310-312)aAt>aCt	p.N104T	TMEM39A_ENST00000486159.1_5'UTR	NM_018266.1	NP_060736.1	Q9NV64	TM39A_HUMAN	transmembrane protein 39A	104						integral to membrane				NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	13				GBM - Glioblastoma multiforme(114;0.244)		AGCAGGATGATTGTAAGGATA	0.373													12	97					0	0	1	0	0	G	119176890	T	G	119176890	3	3	81	1	0	0	0	0	1	0	0	0	16221	1493	52	4	1183	4	TMEM39A	3	119176890	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	42392	119176890	78845540	3223	6839											
ADPRH	141	broad.mit.edu	37	3	119305312	119305312	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:119305312G>A	ENST00000478399.1	+	3	1884	c.479G>A	c.(478-480)cGg>cAg	p.R160Q	ADPRH_ENST00000465513.1_Missense_Mutation_p.R160Q|ADPRH_ENST00000471850.1_3'UTR|ADPRH_ENST00000478927.1_Missense_Mutation_p.R160Q|ADPRH_ENST00000357003.3_Missense_Mutation_p.R160Q			P54922	ADPRH_HUMAN	ADP-ribosylarginine hydrolase	160					protein de-ADP-ribosylation		ADP-ribosylarginine hydrolase activity|magnesium ion binding			breast(1)|kidney(1)|lung(10)|ovary(1)	13		Lung NSC(201;0.0977)		GBM - Glioblastoma multiforme(114;0.23)		GAGAGTGGTCGGATGACCCAC	0.587													77	107					0	0	1	0	0	A	119305312	G	A	119305312	3	1	81	1	0	0	0	0	1	0	0	0	330	1116	39	1	485	1	ADPRH	3	119305312	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	128422	119305312	78717118	3224	6840											
PLA1A	51365	broad.mit.edu	37	3	119328400	119328400	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:119328400G>T	ENST00000273371.4	+	4	611	c.539G>T	c.(538-540)gGa>gTa	p.G180V	PLA1A_ENST00000495992.1_Missense_Mutation_p.G164V|PLA1A_ENST00000488919.1_Missense_Mutation_p.G7V|PLA1A_ENST00000494440.1_Missense_Mutation_p.G164V	NM_015900.3	NP_056984.1	Q53H76	PLA1A_HUMAN	phospholipase A1 member A	180					lipid catabolic process|phosphatidylserine metabolic process	extracellular region	phospholipase A1 activity			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						CAGCTCTTCGGAGGCCAGCTG	0.532													15	89					1.15088e-07	1.34837e-07	1	1	0	T	119328400	G	T	119328400	3	4	81	1	0	0	0	0	1	0	0	0	12036	1174	41	5	553	5	PLA1A	3	119328400	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	23088	119328400	78694030	3225	6841											
PLA1A	51365	broad.mit.edu	37	3	119334871	119334871	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:119334871G>A	ENST00000273371.4	+	6	749	c.677G>A	c.(676-678)cGg>cAg	p.R226Q	PLA1A_ENST00000495992.1_Missense_Mutation_p.R210Q|PLA1A_ENST00000488919.1_Missense_Mutation_p.R53Q|PLA1A_ENST00000494440.1_Missense_Mutation_p.R210Q	NM_015900.3	NP_056984.1	Q53H76	PLA1A_HUMAN	phospholipase A1 member A	226					lipid catabolic process|phosphatidylserine metabolic process	extracellular region	phospholipase A1 activity			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						TTGGGTATTCGGATTCCCGTT	0.537													4	22					0	0	1	0	0	A	119334871	G	A	119334871	3	1	81	1	0	0	0	0	1	0	0	0	12036	1116	39	1	699	1	PLA1A	3	119334871	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	6471	119334871	78687559	3226	6842											
COX17	10063	broad.mit.edu	37	3	119394034	119394034	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:119394034G>T	ENST00000261070.2	-	2	246	c.154C>A	c.(154-156)Cac>Aac	p.H52N	COX17_ENST00000484810.1_Missense_Mutation_p.H87N|COX17_ENST00000497116.1_Missense_Mutation_p.H52N	NM_005694.1	NP_005685.1	Q14061	COX17_HUMAN	COX17 cytochrome c oxidase copper chaperone	52					copper ion transport|generation of precursor metabolites and energy	mitochondrial intermembrane space	copper chaperone activity			central_nervous_system(1)|kidney(1)|large_intestine(1)	3				GBM - Glioblastoma multiforme(114;0.227)		CATTCCTTGTGGGCCTCAATT	0.343													12	74					4.93089e-13	6.20298e-13	1	1	0	T	119394034	G	T	119394034	3	4	81	1	0	0	0	0	1	0	0	0	3789	1348	47	5	41	5	COX17	3	119394034	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	59163	119394034	78628396	3227	6843											
NR1I2	8856	broad.mit.edu	37	3	119530454	119530454	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:119530454G>T	ENST00000393716.2	+	4	2239	c.400G>T	c.(400-402)Ggg>Tgg	p.G134W	NR1I2_ENST00000466380.1_Missense_Mutation_p.G134W|NR1I2_ENST00000337940.4_Missense_Mutation_p.G173W	NM_003889.3	NP_003880	O75469	NR1I2_HUMAN	nuclear receptor subfamily 1, group I, member 2	134	Hinge.				drug export|exogenous drug catabolic process|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|steroid metabolic process|xenobiotic metabolic process|xenobiotic transport	nucleoplasm	drug binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(2)|prostate(2)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.175)	Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Rifampin(DB01045)|Vitamin E(DB00163)	TGAACGGACAGGGACTCAGCC	0.582													3	16					0.004672	0.00489345	1	1	0	T	119530454	G	T	119530454	3	4	81	1	0	0	0	0	1	0	0	0	10668	1000	35	4	531	4	NR1I2	3	119530454	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	136420	119530454	78491976	3228	6844											
FSTL1	11167	broad.mit.edu	37	3	120121677	120121677	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:120121677G>A	ENST00000295633.3	-	9	1139	c.783C>T	c.(781-783)gtC>gtT	p.V261V	FSTL1_ENST00000424703.2_Silent_p.V226V	NM_007085.4	NP_009016.1	Q12841	FSTL1_HUMAN	follistatin-like 1	261	VWFC.				BMP signaling pathway	extracellular space	calcium ion binding|heparin binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|skin(1)	20				GBM - Glioblastoma multiforme(114;0.189)		TGGCTGTACAGACCCAATTTC	0.522													24	60					0	0	1	0	0	A	120121677	G	A	120121677	2	1	81	1	0	0	0	0	0	0	0	1	6112	929	33	2		2	FSTL1	3	120121677	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	591223	120121677	77900753	3229	6845											
HGD	3081	broad.mit.edu	37	3	120352051	120352051	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:120352051G>T	ENST00000283871.5	-	13	1590	c.1131C>A	c.(1129-1131)tgC>tgA	p.C377*		NM_000187.3	NP_000178.2	Q93099	HGD_HUMAN	homogentisate 1,2-dioxygenase	377					L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	homogentisate 1,2-dioxygenase activity|metal ion binding			cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)	25				GBM - Glioblastoma multiforme(114;0.158)		CCTTCTCAAAGCAGTCAGCAT	0.562													20	29					8.28177e-16	1.05926e-15	1	1	0	T	120352051	G	T	120352051	4	4	81	1	0	0	0	0	0	1	0	0	7125	963	34	4	214	4	HGD	3	120352051	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	230374	120352051	77670379	3230	6846											
HGD	3081	broad.mit.edu	37	3	120365896	120365896	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:120365896G>A	ENST00000283871.5	-	8	932	c.473C>T	c.(472-474)cCg>cTg	p.P158L		NM_000187.3	NP_000178.2	Q93099	HGD_HUMAN	homogentisate 1,2-dioxygenase	158					L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	homogentisate 1,2-dioxygenase activity|metal ion binding			cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)	25				GBM - Glioblastoma multiforme(114;0.158)		CCCTTTCTGCGGAACTGACAA	0.448													25	42					0	0	1	0	0	A	120365896	G	A	120365896	3	1	81	1	0	0	0	0	1	0	0	0	7125	1116	39	1	892	1	HGD	3	120365896	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	13845	120365896	77656534	3231	6847											
GTF2E1	2960	broad.mit.edu	37	3	120469544	120469544	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:120469544C>T	ENST00000283875.5	+	2	238	c.145C>T	c.(145-147)Ctg>Ttg	p.L49L		NM_005513.2	NP_005504.2	P29083	T2EA_HUMAN	general transcription factor IIE, polypeptide 1, alpha 56kDa	49	HTH TFE/IIEalpha-type.				interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	nucleoplasm	protein binding|zinc ion binding			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)	22				GBM - Glioblastoma multiforme(114;0.159)		GGAGGATATGCTGGAGCTGCT	0.453													41	56					0	0	1	0	0	T	120469544	C	T	120469544	2	4	81	1	0	0	0	0	0	0	0	1	6897	796	28	2		2	GTF2E1	3	120469544	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	103648	120469544	77552886	3232	6848											
GTF2E1	2960	broad.mit.edu	37	3	120489701	120489701	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:120489701G>A	ENST00000283875.5	+	3	668	c.575G>A	c.(574-576)cGg>cAg	p.R192Q		NM_005513.2	NP_005504.2	P29083	T2EA_HUMAN	general transcription factor IIE, polypeptide 1, alpha 56kDa	192					interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	nucleoplasm	protein binding|zinc ion binding	p.R192L(2)		NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)	22				GBM - Glioblastoma multiforme(114;0.159)		GCATTGCTTCGGGAGACAGAG	0.463													123	187					0	0	1	0	0	A	120489701	G	A	120489701	3	1	81	1	0	0	0	0	1	0	0	0	6897	1116	39	1	581	1	GTF2E1	3	120489701	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	20157	120489701	77532729	3233	6849											
GTF2E1	2960	broad.mit.edu	37	3	120500072	120500072	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:120500072A>T	ENST00000283875.5	+	5	1168	c.1075A>T	c.(1075-1077)Agt>Tgt	p.S359C		NM_005513.2	NP_005504.2	P29083	T2EA_HUMAN	general transcription factor IIE, polypeptide 1, alpha 56kDa	359					interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	nucleoplasm	protein binding|zinc ion binding			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)	22				GBM - Glioblastoma multiforme(114;0.159)		AAGCGAGACCAGTGAGTCAGA	0.532													5	49					0	0	1	0	0	T	120500072	A	T	120500072	3	4	81	1	0	0	0	0	1	0	0	0	6897	188	7	5	1089	5	GTF2E1	3	120500072	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	10371	120500072	77522358	3234	6850											
STXBP5L	9515	broad.mit.edu	37	3	121126116	121126116	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:121126116G>A	ENST00000273666.6	+	24	2957	c.2686G>A	c.(2686-2688)Gtg>Atg	p.V896M	STXBP5L_ENST00000497029.1_Missense_Mutation_p.V870M|STXBP5L_ENST00000471454.1_Missense_Mutation_p.V872M|STXBP5L_ENST00000492541.1_Missense_Mutation_p.V896M|STXBP5L_ENST00000472879.1_Missense_Mutation_p.V872M	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	896					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		GAAAGGAGCTGTGCTAACATT	0.363													21	47					0	0	1	0	0	A	121126116	G	A	121126116	3	1	81	1	0	0	0	0	1	0	0	0	15413	1377	48	2	2776	2	STXBP5L	3	121126116	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	626044	121126116	76896314	3235	6851	27	2									
STXBP5L	9515	broad.mit.edu	37	3	121126125	121126125	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:121126125T>C	ENST00000273666.6	+	24	2966	c.2695T>C	c.(2695-2697)Ttc>Ctc	p.F899L	STXBP5L_ENST00000497029.1_Missense_Mutation_p.F873L|STXBP5L_ENST00000471454.1_Missense_Mutation_p.F875L|STXBP5L_ENST00000492541.1_Missense_Mutation_p.F899L|STXBP5L_ENST00000472879.1_Missense_Mutation_p.F875L	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	899					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		TGTGCTAACATTCTCCTGTAT	0.373													6	60					0	0	1	0	0	C	121126125	T	C	121126125	3	2	81	1	0	0	0	0	1	0	0	0	15413	1493	52	3	2785	3	STXBP5L	3	121126125	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	9	121126125	76896305	3236	6852	27	2									
POLQ	10721	broad.mit.edu	37	3	121207592	121207592	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:121207592C>A	ENST00000264233.5	-	16	4314	c.4186G>T	c.(4186-4188)Ggt>Tgt	p.G1396C		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	1396					DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		TTCATAGTACCTACAGTCTTA	0.418								DNA polymerases (catalytic subunits)					11	112					0.00829132	0.00865729	1	1	0	A	121207592	C	A	121207592	3	1	81	1	0	0	0	0	1	0	0	0	12256	681	24	4	3646	4	POLQ	3	121207592	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	81467	121207592	76814838	3237	6853											
ARGFX	503582	broad.mit.edu	37	3	121304887	121304887	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:121304887C>T	ENST00000334384.3	+	4	398	c.388C>T	c.(388-390)Cga>Tga	p.R130*		NM_001012659.1	NP_001012677.1	A6NJG6	ARGFX_HUMAN	arginine-fifty homeobox	130						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	15				GBM - Glioblastoma multiforme(114;0.152)		CAGGAACCGGCGATTCAAATT	0.522													13	22					0	0	1	0	0	T	121304887	C	T	121304887	4	4	81	1	0	0	0	0	0	1	0	0	856	760	27	1	402	1	ARGFX	3	121304887	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	97295	121304887	76717543	3238	6854											
ARGFX	503582	broad.mit.edu	37	3	121305164	121305164	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:121305164C>A	ENST00000334384.3	+	4	675	c.665C>A	c.(664-666)tCt>tAt	p.S222Y		NM_001012659.1	NP_001012677.1	A6NJG6	ARGFX_HUMAN	arginine-fifty homeobox	222						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	15				GBM - Glioblastoma multiforme(114;0.152)		GCTTTGTACTCTGATGCCTAT	0.448													11	128					0.000978159	0.00104673	1	1	0	A	121305164	C	A	121305164	3	1	81	1	0	0	0	0	1	0	0	0	856	913	32	4	679	4	ARGFX	3	121305164	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	277	121305164	76717266	3239	6855											
FBXO40	51725	broad.mit.edu	37	3	121340550	121340550	+	Missense_Mutation	SNP	G	G	A	rs148128733	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:121340550G>A	ENST00000338040.4	+	3	688	c.274G>A	c.(274-276)Gtg>Atg	p.V92M		NM_016298.3	NP_057382.2	Q9UH90	FBX40_HUMAN	F-box protein 40	92					muscle cell differentiation	centrosome|nucleus	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	46				GBM - Glioblastoma multiforme(114;0.189)		CCCCGCCAGCGTGGTCTGCTG	0.567													23	30					0	0	1	0	0	A	121340550	G	A	121340550	3	1	81	1	0	0	0	0	1	0	0	0	5782	1145	40	1	280	1	FBXO40	3	121340550	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	35386	121340550	76681880	3240	6856											
FBXO40	51725	broad.mit.edu	37	3	121341567	121341567	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:121341567T>A	ENST00000338040.4	+	3	1705	c.1291T>A	c.(1291-1293)Tac>Aac	p.Y431N		NM_016298.3	NP_057382.2	Q9UH90	FBX40_HUMAN	F-box protein 40	431					muscle cell differentiation	centrosome|nucleus	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	46				GBM - Glioblastoma multiforme(114;0.189)		CACACAAACATACAACTTTGA	0.527													51	64					0	0	1	0	0	A	121341567	T	A	121341567	3	1	81	1	0	0	0	0	1	0	0	0	5782	1406	49	4	1297	4	FBXO40	3	121341567	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	1017	121341567	76680863	3241	6857											
GOLGB1	2804	broad.mit.edu	37	3	121396201	121396201	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:121396201C>A	ENST00000393667.3	-	16	9080	c.8970G>T	c.(8968-8970)caG>caT	p.Q2990H	GOLGB1_ENST00000340645.5_Missense_Mutation_p.Q2985H	NM_001256486.1	NP_001243415.1	Q14789	GOGB1_HUMAN	golgin B1	2985					Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		TTATAAGATTCTGCAGATGAC	0.428													6	95					3.09899e-07	3.60815e-07	1	1	0	A	121396201	C	A	121396201	3	1	81	1	0	0	0	0	1	0	0	0	6604	912	32	4	852	4	GOLGB1	3	121396201	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	54634	121396201	76626229	3242	6858											
GOLGB1	2804	broad.mit.edu	37	3	121410038	121410038	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:121410038G>T	ENST00000393667.3	-	14	8283	c.8173C>A	c.(8173-8175)Ctc>Atc	p.L2725I	GOLGB1_ENST00000340645.5_Missense_Mutation_p.L2720I	NM_001256486.1	NP_001243415.1	Q14789	GOGB1_HUMAN	golgin B1	2720					Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		GTGACCATGAGTAATTTCTGT	0.403													24	285					2.27525e-19	2.96239e-19	1	1	0	T	121410038	G	T	121410038	3	4	81	1	0	0	0	0	1	0	0	0	6604	1029	36	4	1657	4	GOLGB1	3	121410038	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	13837	121410038	76612392	3243	6859											
GOLGB1	2804	broad.mit.edu	37	3	121415041	121415041	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:121415041A>G	ENST00000393667.3	-	13	4439	c.4329T>C	c.(4327-4329)gcT>gcC	p.A1443A	GOLGB1_ENST00000340645.5_Silent_p.A1438A	NM_001256486.1	NP_001243415.1	Q14789	GOGB1_HUMAN	golgin B1	1438					Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		GTGTATGCAGAGCCTTAATTA	0.388													56	128					0	0	1	0	0	G	121415041	A	G	121415041	2	3	81	1	0	0	0	0	0	0	0	1	6604	291	11	3		3	GOLGB1	3	121415041	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	5003	121415041	76607389	3244	6860											
GOLGB1	2804	broad.mit.edu	37	3	121433774	121433774	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:121433774C>T	ENST00000393667.3	-	10	1448	c.1338G>A	c.(1336-1338)ctG>ctA	p.L446L	GOLGB1_ENST00000340645.5_Silent_p.L441L	NM_001256486.1	NP_001243415.1	Q14789	GOGB1_HUMAN	golgin B1	441					Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		GTTGCAAGGGCAGTCTATTTA	0.323													39	71					0	0	1	0	0	T	121433774	C	T	121433774	2	4	81	1	0	0	0	0	0	0	0	1	6604	697	25	2		2	GOLGB1	3	121433774	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	18733	121433774	76588656	3245	6861											
SLC15A2	6565	broad.mit.edu	37	3	121634112	121634112	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:121634112G>A	ENST00000489711.1	+	6	955	c.567G>A	c.(565-567)ctG>ctA	p.L189L	SLC15A2_ENST00000295605.2_Silent_p.L158L	NM_021082.3	NP_066568.3	Q16348	S15A2_HUMAN	solute carrier family 15 (oligopeptide transporter), member 2	189					protein transport	integral to plasma membrane	peptide:hydrogen symporter activity|protein binding			NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(114;0.0967)	Cefadroxil(DB01140)	TCTTCTACCTGTCCATCAATG	0.478													7	72					0	0	1	0	0	A	121634112	G	A	121634112	2	1	81	1	0	0	0	0	0	0	0	1	14454	1364	48	2		2	SLC15A2	3	121634112	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	200338	121634112	76388318	3246	6862											
ILDR1	286676	broad.mit.edu	37	3	121720628	121720628	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:121720628C>A	ENST00000273691.3	-	4	568	c.463G>T	c.(463-465)Gga>Tga	p.G155*	ILDR1_ENST00000460554.1_5'UTR|ILDR1_ENST00000462014.1_Nonsense_Mutation_p.G167*|ILDR1_ENST00000344209.5_Nonsense_Mutation_p.G155*|ILDR1_ENST00000393631.1_Intron	NM_175924.3	NP_787120.1	Q86SU0	ILDR1_HUMAN	immunoglobulin-like domain containing receptor 1	155	Ig-like V-type.					cytosol|integral to membrane|plasma membrane	receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(114;0.156)		TCGGGGTCTCCTGATGTGTCC	0.488													47	79					3.86361e-14	4.89604e-14	1	1	0	A	121720628	C	A	121720628	4	1	81	1	0	0	0	0	0	1	0	0	7753	690	24	4	1061	4	ILDR1	3	121720628	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	86516	121720628	76301802	3247	6863											
KPNA1	3836	broad.mit.edu	37	3	122170392	122170392	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:122170392C>A	ENST00000344337.6	-	8	918	c.742G>T	c.(742-744)Gaa>Taa	p.E248*	KPNA1_ENST00000466923.1_5'UTR	NM_002264.3	NP_002255.3	P52294	IMA1_HUMAN	karyopherin alpha 1 (importin alpha 5)	248	Binding to RAG1.				DNA fragmentation involved in apoptotic nuclear change|NLS-bearing substrate import into nucleus|regulation of DNA recombination|viral genome transport in host cell|viral infectious cycle	cytosol|nuclear pore|nucleoplasm	nuclear localization sequence binding|protein binding|protein transporter activity			NS(1)|breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	21				GBM - Glioblastoma multiforme(114;0.0898)		TTTGCAAATTCTGGAGGTGGA	0.398													5	83					0.217242	0.218703	1	1	0	A	122170392	C	A	122170392	4	1	81	1	0	0	0	0	0	1	0	0	8472	922	32	4	902	4	KPNA1	3	122170392	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	449764	122170392	75852038	3248	6864											
PARP9	83666	broad.mit.edu	37	3	122259582	122259582	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:122259582C>A	ENST00000462315.1	-	8	1795	c.1502G>T	c.(1501-1503)aGa>aTa	p.R501I	PARP9_ENST00000477522.2_Missense_Mutation_p.R501I|PARP9_ENST00000492382.1_Missense_Mutation_p.R81I|PARP9_ENST00000360356.2_Missense_Mutation_p.R536I|PARP9_ENST00000471785.1_Missense_Mutation_p.R501I	NM_001146106.1	NP_001139578.1	Q8IXQ6	PARP9_HUMAN	poly (ADP-ribose) polymerase family, member 9	536					cell migration	cytosol|nucleus	NAD+ ADP-ribosyltransferase activity|protein binding			endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	34				GBM - Glioblastoma multiforme(114;0.0519)		ACTCAGGATTCTTTGGATCCA	0.433													54	74					6.176e-18	7.9935e-18	1	1	0	A	122259582	C	A	122259582	3	1	81	1	0	0	0	0	1	0	0	0	11513	913	32	4	1026	4	PARP9	3	122259582	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	89190	122259582	75762848	3249	6865											
DTX3L	151636	broad.mit.edu	37	3	122287567	122287567	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:122287567C>T	ENST00000296161.4	+	3	820	c.631C>T	c.(631-633)Ctc>Ttc	p.L211F	DTX3L_ENST00000383661.3_Intron	NM_138287.3	NP_612144.1	Q8TDB6	DTX3L_HUMAN	deltex 3-like (Drosophila)	211					histone monoubiquitination|response to DNA damage stimulus	cytoplasm|nucleus	histone binding|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(114;0.0459)		GAGGAAGCCACTCAGTCAGCA	0.423													22	28					0	0	1	0	0	T	122287567	C	T	122287567	3	4	81	1	0	0	0	0	1	0	0	0	4822	565	20	2	641	2	DTX3L	3	122287567	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	27985	122287567	75734863	3250	6866											
DTX3L	151636	broad.mit.edu	37	3	122289445	122289445	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:122289445C>T	ENST00000296161.4	+	4	2268	c.2079C>T	c.(2077-2079)cgC>cgT	p.R693R	DTX3L_ENST00000383661.3_Silent_p.R181R	NM_138287.3	NP_612144.1	Q8TDB6	DTX3L_HUMAN	deltex 3-like (Drosophila)	693					histone monoubiquitination|response to DNA damage stimulus	cytoplasm|nucleus	histone binding|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(114;0.0459)		GGTACTCTCGCGTATTAGGAG	0.428													6	67					0	0	1	0	0	T	122289445	C	T	122289445	2	4	81	1	0	0	0	0	0	0	0	1	4822	755	27	1		1	DTX3L	3	122289445	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1878	122289445	75732985	3251	6867											
PARP15	165631	broad.mit.edu	37	3	122351054	122351054	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:122351054C>T	ENST00000483793.1	+	7	1015	c.975C>T	c.(973-975)taC>taT	p.Y325Y	PARP15_ENST00000465304.1_3'UTR|PARP15_ENST00000464300.2_Silent_p.Y520Y|PARP15_ENST00000310366.4_Silent_p.Y286Y|PARP15_ENST00000493645.1_Silent_p.Y217Y			Q460N3	PAR15_HUMAN	poly (ADP-ribose) polymerase family, member 15	498	Macro 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	NAD+ ADP-ribosyltransferase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(114;0.0531)		GTTCTTCCTACGCAATAGAGA	0.358													15	16					0	0	1	0	0	T	122351054	C	T	122351054	2	4	81	1	0	0	0	0	0	0	0	1	11506	547	19	1		1	PARP15	3	122351054	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	61609	122351054	75671376	3252	6868											
PARP14	54625	broad.mit.edu	37	3	122437669	122437669	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:122437669G>T	ENST00000474629.2	+	14	4937	c.4671G>T	c.(4669-4671)gaG>gaT	p.E1557D	PARP14_ENST00000475640.1_3'UTR	NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	1557	WWE.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	NAD+ ADP-ribosyltransferase activity			NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		TGAAATTAGAGGATGCAAGGA	0.378													8	92					0.000157383	0.000171784	1	1	0	T	122437669	G	T	122437669	3	4	81	1	0	0	0	0	1	0	0	0	11505	991	35	4	4725	4	PARP14	3	122437669	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	86615	122437669	75584761	3253	6869											
PARP14	54625	broad.mit.edu	37	3	122447187	122447187	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:122447187G>A	ENST00000474629.2	+	17	5415	c.5149G>A	c.(5149-5151)Gtc>Atc	p.V1717I		NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	1717	PARP catalytic.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	NAD+ ADP-ribosyltransferase activity			NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		CTATTTTGCTGTCAATGCCAA	0.373													34	51					0	0	1	0	0	A	122447187	G	A	122447187	3	1	81	1	0	0	0	0	1	0	0	0	11505	1377	48	2	5215	2	PARP14	3	122447187	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	9518	122447187	75575243	3254	6870											
HSPBAP1	79663	broad.mit.edu	37	3	122496626	122496626	+	Silent	SNP	C	C	T	rs149404291		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:122496626C>T	ENST00000383659.1	-	2	314	c.192G>A	c.(190-192)tcG>tcA	p.S64S	HSPBAP1_ENST00000465044.1_5'UTR|HSPBAP1_ENST00000306103.2_Silent_p.S64S			Q96EW2	HBAP1_HUMAN	HSPB (heat shock 27kDa) associated protein 1	64			S -> A (in dbSNP:rs16833517).			cytoplasm				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|urinary_tract(1)	16				GBM - Glioblastoma multiforme(114;0.0531)		GAAGGACCTGCGAAAGGTATT	0.413													19	28					0	0	1	0	0	T	122496626	C	T	122496626	2	4	81	1	0	0	0	0	0	0	0	1	7469	755	27	1		1	HSPBAP1	3	122496626	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	49439	122496626	75525804	3255	6871											
DIRC2	84925	broad.mit.edu	37	3	122545775	122545775	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:122545775T>G	ENST00000261038.5	+	3	964	c.566T>G	c.(565-567)cTc>cGc	p.L189R		NM_032839.2	NP_116228.1	Q96SL1	DIRC2_HUMAN	disrupted in renal carcinoma 2	189					transport	integral to membrane				endometrium(2)|large_intestine(1)|lung(14)|prostate(1)	18				GBM - Glioblastoma multiforme(114;0.0614)		GCATCAATGCTCAGTTATCTT	0.502													6	108					0	0	1	0	0	G	122545775	T	G	122545775	3	3	81	1	0	0	0	0	1	0	0	0	4562	1551	54	5	576	5	DIRC2	3	122545775	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	49149	122545775	75476655	3256	6872											
DIRC2	84925	broad.mit.edu	37	3	122591370	122591370	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:122591370C>A	ENST00000261038.5	+	8	1645	c.1247C>A	c.(1246-1248)aCt>aAt	p.T416N		NM_032839.2	NP_116228.1	Q96SL1	DIRC2_HUMAN	disrupted in renal carcinoma 2	416					transport	integral to membrane				endometrium(2)|large_intestine(1)|lung(14)|prostate(1)	18				GBM - Glioblastoma multiforme(114;0.0614)		GAAGGAATTACTTGTGGAGTT	0.333													56	79					1.19403e-26	1.58354e-26	1	1	0	A	122591370	C	A	122591370	3	1	81	1	0	0	0	0	1	0	0	0	4562	565	20	4	1277	4	DIRC2	3	122591370	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	45595	122591370	75431060	3257	6873											
SEMA5B	54437	broad.mit.edu	37	3	122641112	122641112	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:122641112G>T	ENST00000195173.4	-	11	1758	c.1455C>A	c.(1453-1455)ctC>ctA	p.L485L	SEMA5B_ENST00000451055.2_Silent_p.L539L|SEMA5B_ENST00000357599.3_Silent_p.L485L			Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B	485	Sema.				cell differentiation|nervous system development	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		GTACATGGTAGAGCGTGTCTT	0.667													3	14					0.004672	0.00489345	1	1	0	T	122641112	G	T	122641112	2	4	81	1	0	0	0	0	0	0	0	1	14092	929	33	4		4	SEMA5B	3	122641112	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	49742	122641112	75381318	3258	6874											
SEMA5B	54437	broad.mit.edu	37	3	122646755	122646755	+	Missense_Mutation	SNP	C	C	A	rs144152379	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:122646755C>A	ENST00000195173.4	-	8	1035	c.732G>T	c.(730-732)caG>caT	p.Q244H	SEMA5B_ENST00000451055.2_Missense_Mutation_p.Q298H|SEMA5B_ENST00000357599.3_Missense_Mutation_p.Q244H			Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B	244	Sema.				cell differentiation|nervous system development	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		AGAGCTCCCCCTGGGAGGAGA	0.617													4	55					2.56e-06	2.92664e-06	1	1	0	A	122646755	C	A	122646755	3	1	81	1	0	0	0	0	1	0	0	0	14092	680	24	4	2787	4	SEMA5B	3	122646755	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	5643	122646755	75375675	3259	6875											
ADCY5	111	broad.mit.edu	37	3	123038541	123038541	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:123038541C>A	ENST00000462833.1	-	10	3448	c.2236G>T	c.(2236-2238)Gag>Tag	p.E746*	ADCY5_ENST00000309879.5_Nonsense_Mutation_p.E396*|ADCY5_ENST00000491190.1_Nonsense_Mutation_p.E379*	NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN	adenylate cyclase 5	746					activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		AAGTCAGGCTCCCTGAAGGTC	0.582													5	29					5.9392e-07	6.87481e-07	1	1	0	A	123038541	C	A	123038541	4	1	81	1	0	0	0	0	0	1	0	0	296	864	30	5	1597	5	ADCY5	3	123038541	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	391786	123038541	74983889	3260	6876											
MYLK	4638	broad.mit.edu	37	3	123451899	123451899	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:123451899C>T	ENST00000360772.3	-	12	1738	c.1360G>A	c.(1360-1362)Gtg>Atg	p.V454M	MYLK_ENST00000360304.3_Missense_Mutation_p.V454M|MYLK_ENST00000346322.5_Intron|MYLK_ENST00000475616.1_Missense_Mutation_p.V454M|MYLK_ENST00000359169.1_Missense_Mutation_p.V454M			Q15746	MYLK_HUMAN	myosin light chain kinase	454	Ig-like C2-type 3.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		TGTCTCCTCACGGGGGTGCCT	0.577													11	14					0	0	1	0	0	T	123451899	C	T	123451899	3	4	81	1	0	0	0	0	1	0	0	0	10104	536	19	1	4480	1	MYLK	3	123451899	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	413358	123451899	74570531	3261	6877											
MYLK	4638	broad.mit.edu	37	3	123452870	123452870	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:123452870A>G	ENST00000360772.3	-	11	1351	c.973T>C	c.(973-975)Tgc>Cgc	p.C325R	MYLK_ENST00000360304.3_Missense_Mutation_p.C325R|MYLK_ENST00000346322.5_Missense_Mutation_p.C325R|MYLK_ENST00000475616.1_Missense_Mutation_p.C325R|MYLK_ENST00000359169.1_Missense_Mutation_p.C325R			Q15746	MYLK_HUMAN	myosin light chain kinase	325					aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		GAGTCCTTGCATGACTCCAGC	0.632													4	59					0	0	1	0	0	G	123452870	A	G	123452870	3	3	81	1	0	0	0	0	1	0	0	0	10104	217	8	3	4871	3	MYLK	3	123452870	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	971	123452870	74569560	3262	6878											
KALRN	8997	broad.mit.edu	37	3	124017690	124017690	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:124017690A>G	ENST00000360013.3	+	6	1143	c.1016A>G	c.(1015-1017)gAg>gGg	p.E339G	KALRN_ENST00000240874.3_Missense_Mutation_p.E339G|KALRN_ENST00000460856.1_Missense_Mutation_p.E339G	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	339					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						AGCCACACGGAGATCGGAGTC	0.522													15	123					0	0	1	0	0	G	124017690	A	G	124017690	3	3	81	1	0	0	0	0	1	0	0	0	8019	304	11	3	1038	3	KALRN	3	124017690	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	564820	124017690	74004740	3263	6879											
KALRN	8997	broad.mit.edu	37	3	124103819	124103819	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:124103819G>A	ENST00000360013.3	+	11	2019	c.1892G>A	c.(1891-1893)cGc>cAc	p.R631H	KALRN_ENST00000240874.3_Missense_Mutation_p.R631H|KALRN_ENST00000460856.1_Missense_Mutation_p.R631H	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	631					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						GACTTCGTGCGCAGGGTGGAG	0.572													25	35					0	0	1	0	0	A	124103819	G	A	124103819	3	1	81	1	0	0	0	0	1	0	0	0	8019	1087	38	1	1934	1	KALRN	3	124103819	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	86129	124103819	73918611	3264	6880											
KALRN	8997	broad.mit.edu	37	3	124181472	124181472	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:124181472C>A	ENST00000360013.3	+	25	4144	c.4017C>A	c.(4015-4017)ttC>ttA	p.F1339L	KALRN_ENST00000240874.3_Missense_Mutation_p.F1339L|KALRN_ENST00000460856.1_Missense_Mutation_p.F1330L	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	1339	DH 1.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						TCTACGATTTCCATAACAAGT	0.483													10	16					1.76689e-08	2.10148e-08	1	1	0	A	124181472	C	A	124181472	3	1	81	1	0	0	0	0	1	0	0	0	8019	854	30	5	4115	5	KALRN	3	124181472	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	77653	124181472	73840958	3265	6881											
KALRN	8997	broad.mit.edu	37	3	124215217	124215217	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:124215217C>A	ENST00000360013.3	+	33	5013	c.4886C>A	c.(4885-4887)tCc>tAc	p.S1629Y	KALRN_ENST00000240874.3_Missense_Mutation_p.S1629Y|KALRN_ENST00000460856.1_Missense_Mutation_p.S1620Y	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	1629					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						GACACCATCTCCATTGCTTCT	0.547													10	61					0.000151284	0.000165917	1	1	0	A	124215217	C	A	124215217	3	1	81	1	0	0	0	0	1	0	0	0	8019	855	30	5	5016	5	KALRN	3	124215217	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	33745	124215217	73807213	3266	6882											
KALRN	8997	broad.mit.edu	37	3	124377281	124377281	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:124377281C>T	ENST00000291478.5	+	9	1109	c.946C>T	c.(946-948)Cgg>Tgg	p.R316W	KALRN_ENST00000360013.3_Missense_Mutation_p.R2013W|KALRN_ENST00000393496.1_Missense_Mutation_p.R354W|KALRN_ENST00000459915.1_Missense_Mutation_p.R105W|KALRN_ENST00000428018.2_Missense_Mutation_p.R284W	NM_007064.3	NP_008995.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase						apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						CTTTCAGGAGCGGAAGCTGCA	0.507													31	59					0	0	1	0	0	T	124377281	C	T	124377281	3	4	81	1	0	0	0	0	1	0	0	0	8019	759	27	1	6359	1	KALRN	3	124377281	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	162064	124377281	73645149	3267	6883											
MUC13	56667	broad.mit.edu	37	3	124635295	124635295	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:124635295G>A	ENST00000311075.3	-	6	868	c.830C>T	c.(829-831)gCt>gTt	p.A277V		NM_033049.3	NP_149038	Q9H3R2	MUC13_HUMAN	mucin 13, cell surface associated	277	SEA.					extracellular region|integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)|stomach(1)	18						CTTGTCATCAGCACGCATTTC	0.333													7	10					0	0	1	0	0	A	124635295	G	A	124635295	3	1	81	1	0	0	0	0	1	0	0	0	10019	971	34	2	729	2	MUC13	3	124635295	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	258014	124635295	73387135	3268	6884											
SLC12A8	84561	broad.mit.edu	37	3	124906141	124906141	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:124906141G>T	ENST00000423114.2	-	4	416	c.417C>A	c.(415-417)atC>atA	p.I139I	SLC12A8_ENST00000314584.7_5'UTR|SLC12A8_ENST00000393469.4_Silent_p.I110I|SLC12A8_ENST00000469902.1_Silent_p.I110I			A0AV02	S12A8_HUMAN	solute carrier family 12, member 8	110					potassium ion transport	integral to membrane	symporter activity			endometrium(2)|kidney(2)|lung(12)	16						GGACCGAGGAGATCATGGAGT	0.662													16	23					1.52009e-12	1.903e-12	1	1	0	T	124906141	G	T	124906141	2	4	81	1	0	0	0	0	0	0	0	1	14444	932	33	4		4	SLC12A8	3	124906141	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	270846	124906141	73116289	3269	6885											
ZNF148	7707	broad.mit.edu	37	3	124952746	124952746	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:124952746C>T	ENST00000360647.4	-	9	1309	c.824G>A	c.(823-825)cGt>cAt	p.R275H	ZNF148_ENST00000497929.1_5'UTR|ZNF148_ENST00000544464.1_Intron|ZNF148_ENST00000484491.1_Missense_Mutation_p.R275H|ZNF148_ENST00000485866.1_Missense_Mutation_p.R275H|ZNF148_ENST00000468369.1_Intron|SLC12A8_ENST00000423114.2_Intron|ZNF148_ENST00000492394.1_Missense_Mutation_p.R275H	NM_021964.2	NP_068799.2	Q9UQR1	ZN148_HUMAN	zinc finger protein 148	275					cellular defense response|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|zinc ion binding			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)	28						ATGGCACATACGTTTATGTTT	0.373													37	50					0	0	1	0	0	T	124952746	C	T	124952746	3	4	81	1	0	0	0	0	1	0	0	0	17792	536	19	1	1564	1	ZNF148	3	124952746	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	46605	124952746	73069684	3270	6886											
SNX4	8723	broad.mit.edu	37	3	125170247	125170247	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:125170247C>T	ENST00000251775.4	-	13	1231	c.1207G>A	c.(1207-1209)Gca>Aca	p.A403T	SNX4_ENST00000536067.1_Missense_Mutation_p.A258T	NM_003794.2	NP_003785.1	O95219	SNX4_HUMAN	sorting nexin 4	403					cell communication|endocytic recycling|endocytosis|protein transport	cytoplasmic dynein complex|early endosome membrane	phosphatidylinositol binding|protein binding			breast(2)|central_nervous_system(1)|lung(6)|ovary(1)|skin(1)	11						TCAGCCCATGCGTTTTTCACA	0.358													45	89					0	0	1	0	0	T	125170247	C	T	125170247	3	4	81	1	0	0	0	0	1	0	0	0	14958	768	27	1	153	1	SNX4	3	125170247	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	217501	125170247	72852183	3271	6887											
SNX4	8723	broad.mit.edu	37	3	125208288	125208288	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:125208288G>A	ENST00000251775.4	-	6	641	c.617C>T	c.(616-618)gCg>gTg	p.A206V	SNX4_ENST00000473417.1_Intron|SNX4_ENST00000536067.1_Missense_Mutation_p.A61V	NM_003794.2	NP_003785.1	O95219	SNX4_HUMAN	sorting nexin 4	206					cell communication|endocytic recycling|endocytosis|protein transport	cytoplasmic dynein complex|early endosome membrane	phosphatidylinositol binding|protein binding			breast(2)|central_nervous_system(1)|lung(6)|ovary(1)|skin(1)	11						TGCATTAAGCGCTTTTAACCT	0.294													18	28					0	0	1	0	0	A	125208288	G	A	125208288	3	1	81	1	0	0	0	0	1	0	0	0	14958	1087	38	1	771	1	SNX4	3	125208288	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	38041	125208288	72814142	3272	6888											
OSBPL11	114885	broad.mit.edu	37	3	125295110	125295110	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:125295110T>C	ENST00000296220.5	-	5	878	c.589A>G	c.(589-591)Aat>Gat	p.N197D		NM_022776.4	NP_073613.2	Q9BXB4	OSB11_HUMAN	oxysterol binding protein-like 11	197					lipid transport		lipid binding			NS(1)|breast(1)|cervix(1)|kidney(2)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	27						TGTCCAACATTAAAAAAAGAA	0.383													6	81					0	0	1	0	0	C	125295110	T	C	125295110	3	2	81	1	0	0	0	0	1	0	0	0	11323	1754	61	3	1690	3	OSBPL11	3	125295110	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	86822	125295110	72727320	3273	6889											
ROPN1B	152015	broad.mit.edu	37	3	125694466	125694466	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:125694466C>T	ENST00000514116.1	+	4	492	c.177C>T	c.(175-177)gtC>gtT	p.V59V	ROPN1B_ENST00000251776.4_Silent_p.V59V|ROPN1B_ENST00000505382.1_5'UTR|ROPN1B_ENST00000511082.1_5'Flank			Q9BZX4	ROP1B_HUMAN	rhophilin associated tail protein 1B	59					acrosome reaction|cell-cell adhesion|cytokinesis|fusion of sperm to egg plasma membrane|Rho protein signal transduction|sperm motility|spermatogenesis	cytoplasm|flagellum	cAMP-dependent protein kinase regulator activity|protein heterodimerization activity|protein homodimerization activity|receptor signaling complex scaffold activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|stomach(1)	8				GBM - Glioblastoma multiforme(114;0.151)		CTGAGCGAGTCGCTTTGTGTA	0.512													23	36					0	0	1	0	0	T	125694466	C	T	125694466	2	4	81	1	0	0	0	0	0	0	0	1	13576	871	31	1		1	ROPN1B	3	125694466	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	399356	125694466	72327964	3274	6890											
SLC41A3	54946	broad.mit.edu	37	3	125741743	125741743	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:125741743G>A	ENST00000383598.2	-	5	838	c.553C>T	c.(553-555)Cga>Tga	p.R185*	SLC41A3_ENST00000360370.4_Nonsense_Mutation_p.R211*|SLC41A3_ENST00000508835.1_Nonsense_Mutation_p.R94*|SLC41A3_ENST00000315891.6_Nonsense_Mutation_p.R211*|SLC41A3_ENST00000346785.5_Nonsense_Mutation_p.R175*	NM_001008487.1	NP_001008487.1	Q96GZ6	S41A3_HUMAN	solute carrier family 41, member 3	211						integral to membrane|plasma membrane	cation transmembrane transporter activity			breast(1)|endometrium(4)|large_intestine(6)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18				GBM - Glioblastoma multiforme(114;0.167)		CCGAGCTTTCGAGCACCAATC	0.547													53	68					0	0	1	0	0	A	125741743	G	A	125741743	4	1	81	1	0	0	0	0	0	1	0	0	14686	1066	37	1	1018	1	SLC41A3	3	125741743	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	47277	125741743	72280687	3275	6891											
ALDH1L1	10840	broad.mit.edu	37	3	125828946	125828946	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:125828946C>A	ENST00000393434.2	-	20	2537	c.2188G>T	c.(2188-2190)Gag>Tag	p.E730*	ALDH1L1_ENST00000393431.2_3'UTR|ALDH1L1_ENST00000273450.3_Nonsense_Mutation_p.E740*|ALDH1L1_ENST00000472186.1_Nonsense_Mutation_p.E730*|ALDH1L1_ENST00000452905.2_Nonsense_Mutation_p.E629*	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	730	Aldehyde dehydrogenase.				10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	TTCCGCACCTCTTCTACCTGC	0.577													4	47					0.217242	0.218703	1	1	0	A	125828946	C	A	125828946	4	1	81	1	0	0	0	0	0	1	0	0	491	922	32	4	536	4	ALDH1L1	3	125828946	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	87203	125828946	72193484	3276	6892											
ALDH1L1	10840	broad.mit.edu	37	3	125872275	125872275	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:125872275C>T	ENST00000455064.2	-	6	768	c.345G>A	c.(343-345)cgG>cgA	p.R115R	ALDH1L1_ENST00000393434.2_Intron|ALDH1L1_ENST00000413612.1_Intron|ALDH1L1_ENST00000452905.2_Intron|ALDH1L1_ENST00000472186.1_Intron|ALDH1L1_ENST00000273450.3_Intron|ALDH1L1_ENST00000393431.2_Intron			O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	0	GART.				10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	TGACCCACAGCCGTGCCCTTA	0.562													4	41					0	0	1	0	0	T	125872275	C	T	125872275	2	4	81	1	0	0	0	0	0	0	0	1	491	754	26	2		2	ALDH1L1	3	125872275	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	43329	125872275	72150155	3277	6893											
CCDC37	348807	broad.mit.edu	37	3	126138971	126138971	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:126138971G>T	ENST00000393425.1	+	11	1083	c.984G>T	c.(982-984)tgG>tgT	p.W328C	CCDC37_ENST00000505024.1_Missense_Mutation_p.W328C|CCDC37_ENST00000352312.1_Missense_Mutation_p.W327C			Q494V2	CCD37_HUMAN	coiled-coil domain containing 37	327										NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.166)		AGAAGCCCTGGAGGTTTCTGC	0.652													16	12					6.72482e-11	8.27642e-11	1	1	0	T	126138971	G	T	126138971	3	4	81	1	0	0	0	0	1	0	0	0	2828	1183	41	5	1019	5	CCDC37	3	126138971	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	266696	126138971	71883459	3278	6894											
ZXDC	79364	broad.mit.edu	37	3	126178503	126178503	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:126178503G>A	ENST00000389709.3	-	7	2258	c.2205C>T	c.(2203-2205)agC>agT	p.S735S		NM_025112.4	NP_079388.3	Q2QGD7	ZXDC_HUMAN	ZXD family zinc finger C	735					positive regulation of transcription, DNA-dependent	nucleus	C2H2 zinc finger domain binding|identical protein binding|LRR domain binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(1)	17				GBM - Glioblastoma multiforme(114;0.155)		CACCTGCATTGCTCCCCGCTC	0.537													36	375					0	0	1	0	0	A	126178503	G	A	126178503	2	1	81	1	0	0	0	0	0	0	0	1	18292	1310	46	2		2	ZXDC	3	126178503	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	39532	126178503	71843927	3279	6895											
ZXDC	79364	broad.mit.edu	37	3	126178581	126178581	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:126178581C>A	ENST00000389709.3	-	7	2181		c.e7-1			NM_025112.4	NP_079388.3	Q2QGD7	ZXDC_HUMAN	ZXD family zinc finger C						positive regulation of transcription, DNA-dependent	nucleus	C2H2 zinc finger domain binding|identical protein binding|LRR domain binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(1)	17				GBM - Glioblastoma multiforme(114;0.155)		CCCCACTTTCCTGAGACCAAA	0.507													27	226					2.70662e-09	3.26459e-09	1	1	0	A	126178581	C	A	126178581	5	1	81	1	0	0	0	0	0	0	1	0	18292	695	24	4	465	4	ZXDC	3	126178581	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	78	126178581	71843849	3280	6896											
UROC1	131669	broad.mit.edu	37	3	126224682	126224682	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:126224682G>A	ENST00000290868.2	-	8	728	c.675C>T	c.(673-675)acC>acT	p.T225T	UROC1_ENST00000383579.3_Silent_p.T225T	NM_144639.2	NP_653240.1	Q96N76	HUTU_HUMAN	urocanate hydratase 1	225					histidine catabolic process	cytosol	urocanate hydratase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1)	39				GBM - Glioblastoma multiforme(114;0.17)		CATTCAACACGGTGAGCTGCA	0.662													7	17					0	0	1	0	0	A	126224682	G	A	126224682	2	1	81	1	0	0	0	0	0	0	0	1	17088	1103	39	1		1	UROC1	3	126224682	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	46101	126224682	71797748	3281	6897											
CHST13	166012	broad.mit.edu	37	3	126255145	126255145	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:126255145G>T	ENST00000319340.2	+	2	179	c.129G>T	c.(127-129)tgG>tgT	p.W43C		NM_152889.2	NP_690849.1	Q8NET6	CHSTD_HUMAN	carbohydrate (chondroitin 4) sulfotransferase 13	43					chondroitin sulfate biosynthetic process	Golgi membrane|integral to membrane	chondroitin 4-sulfotransferase activity|N-acetylgalactosamine 4-O-sulfotransferase activity			central_nervous_system(1)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(114;0.151)		GCTCCAGCTGGCTTGGTGGGG	0.597													17	40					3.41278e-10	4.16681e-10	1	1	0	T	126255145	G	T	126255145	3	4	81	1	0	0	0	0	1	0	0	0	3423	1212	42	5	135	5	CHST13	3	126255145	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	30463	126255145	71767285	3282	6898											
C3orf22	152065	broad.mit.edu	37	3	126268739	126268739	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:126268739G>A	ENST00000318225.2	-	4	776	c.398C>T	c.(397-399)gCg>gTg	p.A133V		NM_152533.1	NP_689746.1	Q8N5N4	CC022_HUMAN	chromosome 3 open reading frame 22	133										large_intestine(1)|lung(3)|ovary(2)|prostate(1)	7				GBM - Glioblastoma multiforme(114;0.147)		CAGCCCTGCCGCCTTGCTGGT	0.627													11	22					0	0	1	0	0	A	126268739	G	A	126268739	3	1	81	1	0	0	0	0	1	0	0	0	2229	1087	38	1	31	1	C3orf22	3	126268739	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	13594	126268739	71753691	3283	6899											
PLXNA1	5361	broad.mit.edu	37	3	126708301	126708301	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:126708301G>A	ENST00000393409.2	+	1	865	c.865G>A	c.(865-867)Gac>Aac	p.D289N	PLXNA1_ENST00000251772.4_Missense_Mutation_p.D266N	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	289	Sema.				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		CTGTGTGGACGACCCCAAATT	0.622													62	108					0	0	1	0	0	A	126708301	G	A	126708301	3	1	81	1	0	0	0	0	1	0	0	0	12167	1058	37	1	867	1	PLXNA1	3	126708301	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	439562	126708301	71314129	3284	6900											
PLXNA1	5361	broad.mit.edu	37	3	126734114	126734114	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:126734114G>T	ENST00000393409.2	+	14	2965	c.2965G>T	c.(2965-2967)Ggc>Tgc	p.G989C	PLXNA1_ENST00000251772.4_Missense_Mutation_p.G966C	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	989	IPT/TIG 2.				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		CCTGAACGCAGGCAGTGATGT	0.662													21	30					1.22574e-08	1.46304e-08	1	1	0	T	126734114	G	T	126734114	3	4	81	1	0	0	0	0	1	0	0	0	12167	1000	35	4	3019	4	PLXNA1	3	126734114	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	25813	126734114	71288316	3285	6901											
PLXNA1	5361	broad.mit.edu	37	3	126735848	126735848	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:126735848C>T	ENST00000393409.2	+	16	3244	c.3244C>T	c.(3244-3246)Cgg>Tgg	p.R1082W	PLXNA1_ENST00000251772.4_Missense_Mutation_p.R1059W	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	1082	IPT/TIG 3.				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		ACCCCGAATCCGGGCCAAGTA	0.637													15	29					0	0	1	0	0	T	126735848	C	T	126735848	3	4	81	1	0	0	0	0	1	0	0	0	12167	643	23	1	3306	1	PLXNA1	3	126735848	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1734	126735848	71286582	3286	6902											
PLXNA1	5361	broad.mit.edu	37	3	126739187	126739187	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:126739187G>T	ENST00000393409.2	+	20	4038	c.4038G>T	c.(4036-4038)gaG>gaT	p.E1346D	PLXNA1_ENST00000251772.4_Splice_Site_p.E1323D	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	1346					axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		AGGAGATGGAGGTAGGACCAC	0.602													6	24					5.9392e-07	6.87481e-07	1	1	0	T	126739187	G	T	126739187	5	4	81	1	0	0	0	0	0	0	1	0	12167	1014	35	4	4116	4	PLXNA1	3	126739187	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	3339	126739187	71283243	3287	6903											
PODXL2	50512	broad.mit.edu	37	3	127390345	127390345	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:127390345C>T	ENST00000342480.6	+	7	1533	c.1494C>T	c.(1492-1494)taC>taT	p.Y498Y		NM_015720.2	NP_056535.1	Q9NZ53	PDXL2_HUMAN	podocalyxin-like 2	498					leukocyte tethering or rolling	integral to plasma membrane	glycosaminoglycan binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	26						GCAGCGACTACGGCACGCTCT	0.627													27	43					0	0	1	0	0	T	127390345	C	T	127390345	2	4	81	1	0	0	0	0	0	0	0	1	12229	547	19	1		1	PODXL2	3	127390345	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	651158	127390345	70632085	3288	6904											
MGLL	11343	broad.mit.edu	37	3	127413948	127413948	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:127413948C>T	ENST00000434178.2	-	7	1552	c.656G>A	c.(655-657)cGg>cAg	p.R219Q	MGLL_ENST00000398101.3_Missense_Mutation_p.R193Q|MGLL_ENST00000476682.1_5'UTR|MGLL_ENST00000453507.2_Missense_Mutation_p.R199Q|MGLL_ENST00000398104.1_Missense_Mutation_p.R219Q|MGLL_ENST00000265052.5_Missense_Mutation_p.R229Q			Q99685	MGLL_HUMAN	monoglyceride lipase	219					arachidonic acid metabolic process|fatty acid biosynthetic process|inflammatory response|platelet activation|regulation of endocannabinoid signaling pathway|regulation of inflammatory response|regulation of sensory perception of pain|triglyceride catabolic process	plasma membrane	acylglycerol lipase activity|carboxylesterase activity|lysophospholipase activity|protein homodimerization activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)	6						GCGCTCCACCCGTGAGACGGC	0.607													7	51					0	0	1	0	0	T	127413948	C	T	127413948	3	4	81	1	0	0	0	0	1	0	0	0	9605	652	23	1	263	1	MGLL	3	127413948	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	23603	127413948	70608482	3289	6905											
KBTBD12	166348	broad.mit.edu	37	3	127642601	127642601	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:127642601G>T	ENST00000405109.1	+	2	1164	c.697G>T	c.(697-699)Gcc>Tcc	p.A233S	KBTBD12_ENST00000407609.3_Intron|KBTBD12_ENST00000405256.1_Missense_Mutation_p.A233S|KBTBD12_ENST00000343941.4_Intron			Q3ZCT8	KBTBC_HUMAN	kelch repeat and BTB (POZ) domain containing 12	233	BACK.									endometrium(1)|large_intestine(6)|lung(5)|ovary(1)	13						TTTAAGACAAGCCCTAAGAAG	0.383													10	67					2.17888e-05	2.43576e-05	1	1	0	T	127642601	G	T	127642601	3	4	81	1	0	0	0	0	1	0	0	0	8035	971	34	4	699	4	KBTBD12	3	127642601	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	228653	127642601	70379829	3290	6906											
KBTBD12	166348	broad.mit.edu	37	3	127642974	127642974	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:127642974G>T	ENST00000405109.1	+	2	1537	c.1070G>T	c.(1069-1071)aGg>aTg	p.R357M	KBTBD12_ENST00000407609.3_Intron|KBTBD12_ENST00000492025.1_3'UTR|KBTBD12_ENST00000405256.1_Splice_Site_p.R357M|KBTBD12_ENST00000343941.4_Intron			Q3ZCT8	KBTBC_HUMAN	kelch repeat and BTB (POZ) domain containing 12	357										endometrium(1)|large_intestine(6)|lung(5)|ovary(1)	13						GAAATTTATAGGTTTGTATCT	0.318													9	55					0.0581538	0.0592525	1	1	0	T	127642974	G	T	127642974	5	4	81	1	0	0	0	0	0	0	1	0	8035	1014	35	4	1072	4	KBTBD12	3	127642974	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	373	127642974	70379456	3291	6907											
RUVBL1	8607	broad.mit.edu	37	3	127831743	127831743	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:127831743G>A	ENST00000464873.1	-	3	919	c.169C>T	c.(169-171)Cgc>Tgc	p.R57C	RUVBL1_ENST00000322623.5_Missense_Mutation_p.R117C|RUVBL1_ENST00000417360.1_Missense_Mutation_p.R117C			Q9Y265	RUVB1_HUMAN	RuvB-like AAA ATPase 1	117					cell division|CenH3-containing nucleosome assembly at centromere|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|mitosis|regulation of growth|regulation of transcription from RNA polymerase II promoter|spermatogenesis|transcription, DNA-dependent	Golgi apparatus|Ino80 complex|membrane|microtubule organizing center|MLL1 complex|NuA4 histone acetyltransferase complex|nuclear matrix	ATP binding|DNA helicase activity|protein binding	p.R117C(2)		endometrium(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26				GBM - Glioblastoma multiforme(114;0.181)		ATGGCCCTGCGGAAGTTCTCC	0.512													30	40					0	0	1	0	0	A	127831743	G	A	127831743	3	1	81	1	0	0	0	0	1	0	0	0	13804	1116	39	1	1057	1	RUVBL1	3	127831743	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	188769	127831743	70190687	3292	6908											
ACAD9	28976	broad.mit.edu	37	3	128627876	128627876	+	Silent	SNP	C	C	T	rs143991763		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:128627876C>T	ENST00000308982.7	+	14	1500	c.1419C>T	c.(1417-1419)gaC>gaT	p.D473D	ACAD9_ENST00000511526.1_3'UTR	NM_014049.4	NP_054768.2	Q9H845	ACAD9_HUMAN	acyl-CoA dehydrogenase family, member 9	473						mitochondrion	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	30						GGCTTCGGGACTCCCTGGGCC	0.587													12	19					0	0	1	0	0	T	128627876	C	T	128627876	2	4	81	1	0	0	0	0	0	0	0	1	111	564	20	2		2	ACAD9	3	128627876	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	796133	128627876	69394554	3293	6909											
ACAD9	28976	broad.mit.edu	37	3	128631414	128631414	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:128631414C>A	ENST00000308982.7	+	18	1911	c.1830C>A	c.(1828-1830)gcC>gcA	p.A610A	ACAD9_ENST00000511526.1_3'UTR|KIAA1257_ENST00000511438.1_Intron|RP11-723O4.6_ENST00000508239.1_Intron	NM_014049.4	NP_054768.2	Q9H845	ACAD9_HUMAN	acyl-CoA dehydrogenase family, member 9	610						mitochondrion	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	30						AGAAGCGAGCCTATATCTGTG	0.552													27	55					1.2476e-16	1.60284e-16	1	1	0	A	128631414	C	A	128631414	2	1	81	1	0	0	0	0	0	0	0	1	111	668	24	4		4	ACAD9	3	128631414	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3538	128631414	69391016	3294	6910											
KIAA1257	57501	broad.mit.edu	37	3	128706480	128706480	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:128706480C>T	ENST00000265068.5	-	4	813	c.646G>A	c.(646-648)Gtg>Atg	p.V216M	KIAA1257_ENST00000510149.1_5'UTR|KIAA1257_ENST00000511438.1_Missense_Mutation_p.V216M|KIAA1257_ENST00000515659.1_Missense_Mutation_p.V104M	NM_020741.2	NP_065792.1	Q9ULG3	K1257_HUMAN	KIAA1257	216										breast(1)|endometrium(2)|large_intestine(3)|lung(6)|skin(2)	14						AAAGCTCCCACGTCGTCTGTG	0.433													24	47					0	0	1	0	0	T	128706480	C	T	128706480	3	4	81	1	0	0	0	0	1	0	0	0	8260	536	19	1	603	1	KIAA1257	3	128706480	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	75066	128706480	69315950	3295	6911	28	2									
KIAA1257	57501	broad.mit.edu	37	3	128706483	128706483	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:128706483C>T	ENST00000265068.5	-	4	810	c.643G>A	c.(643-645)Gac>Aac	p.D215N	KIAA1257_ENST00000510149.1_5'UTR|KIAA1257_ENST00000511438.1_Missense_Mutation_p.D215N|KIAA1257_ENST00000515659.1_Missense_Mutation_p.D103N	NM_020741.2	NP_065792.1	Q9ULG3	K1257_HUMAN	KIAA1257	215										breast(1)|endometrium(2)|large_intestine(3)|lung(6)|skin(2)	14						GCTCCCACGTCGTCTGTGAAG	0.423													25	44					0	0	1	0	0	T	128706483	C	T	128706483	3	4	81	1	0	0	0	0	1	0	0	0	8260	884	31	1	606	1	KIAA1257	3	128706483	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3	128706483	69315947	3296	6912	28	2									
GP9	2815	broad.mit.edu	37	3	128780695	128780695	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:128780695G>A	ENST00000307395.4	+	3	335	c.113G>A	c.(112-114)tGc>tAc	p.C38Y		NM_000174.3	NP_000165.1	P14770	GPIX_HUMAN	glycoprotein IX (platelet)	38	LRRNT.				blood coagulation, intrinsic pathway|cell adhesion|platelet activation	integral to plasma membrane	protein binding			NS(1)|central_nervous_system(1)|lung(4)	6					Quinine(DB00468)	TGGGTGGACTGCAGGGGCCAC	0.697													6	6					0	0	1	0	0	A	128780695	G	A	128780695	3	1	81	1	0	0	0	0	1	0	0	0	6625	1319	46	2	115	2	GP9	3	128780695	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	74212	128780695	69241735	3297	6913											
CNBP	7555	broad.mit.edu	37	3	128889325	128889325	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:128889325G>A	ENST00000422453.2	-	5	665	c.505C>T	c.(505-507)Cgg>Tgg	p.R169W	CNBP_ENST00000451728.2_Missense_Mutation_p.R170W|CNBP_ENST00000441626.2_Missense_Mutation_p.R171W|CNBP_ENST00000500450.2_Missense_Mutation_p.R152W|CNBP_ENST00000504813.1_Missense_Mutation_p.R159W|CNBP_ENST00000502976.1_Missense_Mutation_p.R162W|CNBP_ENST00000446936.2_Missense_Mutation_p.R164W	NM_001127192.1|NM_001127193.1|NM_003418.4	NP_001120664.1|NP_001120665.1|NP_003409.1	P62633	CNBP_HUMAN	CCHC-type zinc finger, nucleic acid binding protein	169					cholesterol biosynthetic process	endoplasmic reticulum	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			biliary_tract(1)|endometrium(1)|kidney(1)|lung(2)	5						GTGCATTCCCGTGCAAGGTGC	0.448													14	163					0	0	1	0	0	A	128889325	G	A	128889325	3	1	81	1	0	0	0	0	1	0	0	0	3615	1144	40	1	32	1	CNBP	3	128889325	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	108630	128889325	69133105	3298	6914											
CNBP	7555	broad.mit.edu	37	3	128890339	128890339	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:128890339C>T	ENST00000422453.2	-	3	327	c.167G>A	c.(166-168)cGc>cAc	p.R56H	CNBP_ENST00000451728.2_Missense_Mutation_p.R56H|CNBP_ENST00000441626.2_Missense_Mutation_p.R56H|CNBP_ENST00000500450.2_Missense_Mutation_p.R39H|CNBP_ENST00000504813.1_Missense_Mutation_p.R46H|CNBP_ENST00000502976.1_Missense_Mutation_p.R49H|CNBP_ENST00000446936.2_Missense_Mutation_p.R49H	NM_001127192.1|NM_001127193.1|NM_003418.4	NP_001120664.1|NP_001120665.1|NP_003409.1	P62633	CNBP_HUMAN	CCHC-type zinc finger, nucleic acid binding protein	56					cholesterol biosynthetic process	endoplasmic reticulum	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			biliary_tract(1)|endometrium(1)|kidney(1)|lung(2)	5						CTCACCACAGCGATAACAAAT	0.423													29	37					0	0	1	0	0	T	128890339	C	T	128890339	3	4	81	1	0	0	0	0	1	0	0	0	3615	768	27	1	384	1	CNBP	3	128890339	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1014	128890339	69132091	3299	6915											
MBD4	8930	broad.mit.edu	37	3	129156736	129156736	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:129156736C>T	ENST00000429544.2	-	2	357	c.162G>A	c.(160-162)atG>atA	p.M54I	MBD4_ENST00000507208.1_Missense_Mutation_p.M54I|MBD4_ENST00000249910.1_Missense_Mutation_p.M54I|MBD4_ENST00000509587.1_5'UTR|MBD4_ENST00000393278.2_Missense_Mutation_p.M54I|MBD4_ENST00000503197.1_Missense_Mutation_p.M54I	NM_001276270.1	NP_001263199.1	O95243	MBD4_HUMAN	methyl-CpG binding domain protein 4	54					depyrimidination	nucleoplasm	DNA N-glycosylase activity|endodeoxyribonuclease activity|protein binding|satellite DNA binding			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)	22						TTCTTTTTATCATCATTTGTT	0.383								Base excision repair (BER), DNA glycosylases					59	81					0	0	1	0	0	T	129156736	C	T	129156736	3	4	81	1	0	0	0	0	1	0	0	0	9396	826	29	2	1608	2	MBD4	3	129156736	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	266397	129156736	68865694	3300	6916											
IFT122	55764	broad.mit.edu	37	3	129196977	129196977	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:129196977G>A	ENST00000296266.3	+	13	1611	c.1419G>A	c.(1417-1419)atG>atA	p.M473I	IFT122_ENST00000431818.2_Missense_Mutation_p.M272I|IFT122_ENST00000507564.1_Missense_Mutation_p.M414I|IFT122_ENST00000504021.1_Missense_Mutation_p.M316I|IFT122_ENST00000348417.2_Missense_Mutation_p.M422I|IFT122_ENST00000349441.2_Missense_Mutation_p.M311I|IFT122_ENST00000347300.2_Missense_Mutation_p.M363I|IFT122_ENST00000440957.2_Missense_Mutation_p.M213I	NM_052985.2	NP_443711.2	Q9HBG6	IF122_HUMAN	intraflagellar transport 122 homolog (Chlamydomonas)	422					camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure	microtubule basal body|photoreceptor connecting cilium				breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						TATCAGACATGCATTACCGGG	0.453													12	24					0	0	1	0	0	A	129196977	G	A	129196977	3	1	81	1	0	0	0	0	1	0	0	0	7599	1319	46	2	1469	2	IFT122	3	129196977	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	40241	129196977	68825453	3301	6917											
IFT122	55764	broad.mit.edu	37	3	129207235	129207235	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:129207235A>G	ENST00000296266.3	+	17	2332	c.2140A>G	c.(2140-2142)Aag>Gag	p.K714E	IFT122_ENST00000431818.2_Missense_Mutation_p.K513E|IFT122_ENST00000507564.1_Missense_Mutation_p.K655E|IFT122_ENST00000504021.1_Missense_Mutation_p.K557E|IFT122_ENST00000348417.2_Missense_Mutation_p.K663E|IFT122_ENST00000349441.2_Missense_Mutation_p.K552E|IFT122_ENST00000347300.2_Missense_Mutation_p.K604E|IFT122_ENST00000440957.2_Missense_Mutation_p.K454E	NM_052985.2	NP_443711.2	Q9HBG6	IF122_HUMAN	intraflagellar transport 122 homolog (Chlamydomonas)	663					camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure	microtubule basal body|photoreceptor connecting cilium				breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						TGAAACAGCAAAGAAGGTAAG	0.522													9	42					0	0	1	0	0	G	129207235	A	G	129207235	3	3	81	1	0	0	0	0	1	0	0	0	7599	15	1	3	2206	3	IFT122	3	129207235	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	10258	129207235	68815195	3302	6918											
RHO	6010	broad.mit.edu	37	3	129252543	129252543	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:129252543C>T	ENST00000296271.3	+	5	1123	c.1029C>T	c.(1027-1029)agC>agT	p.S343S		NM_000539.3	NP_000530.1	P08100	OPSD_HUMAN	rhodopsin	343					protein-chromophore linkage|rhodopsin mediated signaling pathway	Golgi apparatus|integral to plasma membrane|photoreceptor inner segment membrane|photoreceptor outer segment membrane	G-protein coupled receptor activity|metal ion binding|photoreceptor activity|protein binding			breast(1)|endometrium(1)|large_intestine(10)|lung(6)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	22		all_neural(597;0.0227)|Myeloproliferative disorder(1037;0.0255)|Prostate(884;0.183)		GBM - Glioblastoma multiforme(114;2.58e-05)|Lung(219;0.0234)	Halothane(DB01159)	CGGAGACGAGCCAGGTGGCCC	0.627													33	32					0	0	1	0	0	T	129252543	C	T	129252543	2	4	81	1	0	0	0	0	0	0	0	1	13380	738	26	2		2	RHO	3	129252543	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	45308	129252543	68769887	3303	6919											
PLXND1	23129	broad.mit.edu	37	3	129275975	129275975	+	Missense_Mutation	SNP	G	G	A	rs141415531		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:129275975G>A	ENST00000324093.4	-	34	5715	c.5537C>T	c.(5536-5538)aCg>aTg	p.T1846M	PLXND1_ENST00000393239.1_3'UTR|PLXND1_ENST00000504689.1_Missense_Mutation_p.T2M	NM_015103.2	NP_055918	Q9Y4D7	PLXD1_HUMAN	plexin D1	1846					axon guidance	integral to membrane|intracellular|plasma membrane			PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						GCTGAGCGGCGTCATGTCCTG	0.617													26	33					0	0	1	0	0	A	129275975	G	A	129275975	3	1	81	1	0	0	0	0	1	0	0	0	12175	1145	40	1	252	1	PLXND1	3	129275975	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	23432	129275975	68746455	3304	6920											
PLXND1	23129	broad.mit.edu	37	3	129289894	129289894	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:129289894G>T	ENST00000393239.1	-	18	3767	c.3589C>A	c.(3589-3591)Ctc>Atc	p.L1197I	PLXND1_ENST00000324093.4_Missense_Mutation_p.L1197I			Q9Y4D7	PLXD1_HUMAN	plexin D1	1197					axon guidance	integral to membrane|intracellular|plasma membrane			PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						TGGATAACGAGGGTGAGAGGC	0.662													14	185					0.000151284	0.000165917	1	1	0	T	129289894	G	T	129289894	3	4	81	1	0	0	0	0	1	0	0	0	12175	1000	35	4	2264	4	PLXND1	3	129289894	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	13919	129289894	68732536	3305	6921											
PLXND1	23129	broad.mit.edu	37	3	129324846	129324846	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:129324846A>G	ENST00000393239.1	-	1	815	c.637T>C	c.(637-639)Tac>Cac	p.Y213H	PLXND1_ENST00000324093.4_Missense_Mutation_p.Y213H			Q9Y4D7	PLXD1_HUMAN	plexin D1	213	Sema.				axon guidance	integral to membrane|intracellular|plasma membrane			PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						TAACCGGTGTACGTGGCGCCC	0.716													2	5					0	0	1	0	0	G	129324846	A	G	129324846	3	3	81	1	0	0	0	0	1	0	0	0	12175	391	14	3	5284	3	PLXND1	3	129324846	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	34952	129324846	68697584	3306	6922											
TMCC1	23023	broad.mit.edu	37	3	129389445	129389445	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:129389445A>G	ENST00000393238.3	-	4	1579	c.1239T>C	c.(1237-1239)tcT>tcC	p.S413S	TMCC1_ENST00000426664.2_Silent_p.S299S|TMCC1_ENST00000329333.5_Silent_p.S234S|TMCC1_ENST00000432054.2_Silent_p.S89S	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN	transmembrane and coiled-coil domain family 1	413						integral to membrane			PLXND1/TMCC1(4)	breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						ATTTTGGGCTAGACTGAAAGT	0.512													8	64					0	0	1	0	0	G	129389445	A	G	129389445	2	3	81	1	0	0	0	0	0	0	0	1	16052	407	15	3		3	TMCC1	3	129389445	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	64599	129389445	68632985	3307	6923											
TMCC1	23023	broad.mit.edu	37	3	129389913	129389913	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:129389913G>A	ENST00000393238.3	-	4	1111	c.771C>T	c.(769-771)gaC>gaT	p.D257D	TMCC1_ENST00000426664.2_Silent_p.D143D|TMCC1_ENST00000329333.5_Silent_p.D78D|TMCC1_ENST00000432054.2_5'UTR	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN	transmembrane and coiled-coil domain family 1	257						integral to membrane			PLXND1/TMCC1(4)	breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						CAGCAACGTTGTCGTCCCGGG	0.507													69	89					0	0	1	0	0	A	129389913	G	A	129389913	2	1	81	1	0	0	0	0	0	0	0	1	16052	1368	48	2		2	TMCC1	3	129389913	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	468	129389913	68632517	3308	6924											
COL6A5	256076	broad.mit.edu	37	3	130159148	130159148	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:130159148T>C	ENST00000265379.6	+	35	6460	c.5966T>C	c.(5965-5967)gTg>gCg	p.V1989A	COL6A5_ENST00000432398.2_Missense_Mutation_p.V1989A			A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	1989	Nonhelical region.|VWFA 9.				axon guidance|cell adhesion	collagen				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						GTGAGCTCAGTGATTGACAAC	0.413													14	15					0	0	1	0	0	C	130159148	T	C	130159148	3	2	81	1	0	0	0	0	1	0	0	0	3725	1696	59	3	6100	3	COL6A5	3	130159148	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	769235	130159148	67863282	3309	6925											
COL6A6	131873	broad.mit.edu	37	3	130285612	130285612	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:130285612C>T	ENST00000358511.6	+	4	1380	c.1349C>T	c.(1348-1350)aCa>aTa	p.T450I	COL6A6_ENST00000453409.2_Missense_Mutation_p.T450I	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	450	Nonhelical region.|VWFA 3.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						ACCCAGGCCACAGATTTCCAT	0.493													12	51					0	0	1	0	0	T	130285612	C	T	130285612	3	4	81	1	0	0	0	0	1	0	0	0	3726	478	17	2	1363	2	COL6A6	3	130285612	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	126464	130285612	67736818	3310	6926											
COL6A6	131873	broad.mit.edu	37	3	130300717	130300717	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:130300717C>T	ENST00000358511.6	+	8	3891	c.3860C>T	c.(3859-3861)aCa>aTa	p.T1287I	COL6A6_ENST00000453409.2_Missense_Mutation_p.T1287I	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	1287	Nonhelical region.|VWFA 7.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						CTATGGGATACATTTCAGAAT	0.333													54	121					0	0	1	0	0	T	130300717	C	T	130300717	3	4	81	1	0	0	0	0	1	0	0	0	3726	478	17	2	3890	2	COL6A6	3	130300717	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	15105	130300717	67721713	3311	6927											
PIK3R4	30849	broad.mit.edu	37	3	130405075	130405075	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:130405075T>C	ENST00000356763.3	-	15	4012	c.3455A>G	c.(3454-3456)cAc>cGc	p.H1152R	PIK3R4_ENST00000512677.1_5'UTR	NM_014602.2	NP_055417.1	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	1152					fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	77						CCAGCATTGGTGGATGTCCAC	0.458													20	28					0	0	1	0	0	C	130405075	T	C	130405075	3	2	81	1	0	0	0	0	1	0	0	0	11969	1696	59	3	645	3	PIK3R4	3	130405075	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	104358	130405075	67617355	3312	6928											
PIK3R4	30849	broad.mit.edu	37	3	130452730	130452730	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:130452730T>C	ENST00000356763.3	-	4	1669	c.1112A>G	c.(1111-1113)aAg>aGg	p.K371R		NM_014602.2	NP_055417.1	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	371					fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	77						CCCATTTTCCTTAGGCTCTCC	0.423													10	131					0	0	1	0	0	C	130452730	T	C	130452730	3	2	81	1	0	0	0	0	1	0	0	0	11969	1609	56	3	3032	3	PIK3R4	3	130452730	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	47655	130452730	67569700	3313	6929											
ATP2C1	27032	broad.mit.edu	37	3	130714955	130714955	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:130714955C>T	ENST00000510168.1	+	23	2676	c.2126C>T	c.(2125-2127)aCg>aTg	p.T709M	ATP2C1_ENST00000513801.1_Splice_Site_p.T693M|ATP2C1_ENST00000393221.4_Splice_Site_p.T743M|ATP2C1_ENST00000504381.1_Splice_Site_p.T654M|ATP2C1_ENST00000428331.2_Splice_Site_p.T709M|ATP2C1_ENST00000504948.1_Splice_Site_p.T693M|ATP2C1_ENST00000505330.1_Splice_Site_p.T693M|ATP2C1_ENST00000359644.3_Splice_Site_p.T709M|ATP2C1_ENST00000508532.1_Splice_Site_p.T709M|ATP2C1_ENST00000328560.8_Splice_Site_p.T709M|ATP2C1_ENST00000533801.2_Splice_Site_p.T704M|ATP2C1_ENST00000507488.2_Splice_Site_p.T693M|ATP2C1_ENST00000422190.2_Splice_Site_p.T709M			P98194	AT2C1_HUMAN	ATPase, Ca++ transporting, type 2C, member 1	709			T -> M (in HHD).		actin cytoskeleton reorganization|ATP biosynthetic process|calcium-dependent cell-cell adhesion|cellular calcium ion homeostasis|cellular manganese ion homeostasis|epidermis development|Golgi calcium ion homeostasis|Golgi calcium ion transport|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi apparatus|Golgi membrane|integral to membrane|trans-Golgi network	ATP binding|calcium ion binding|calcium-transporting ATPase activity|manganese ion binding|manganese-transporting ATPase activity|metal ion binding|signal transducer activity			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|prostate(2)|skin(2)|urinary_tract(1)	39					Arsenic trioxide(DB01169)|Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Miconazole(DB01110)|Sevoflurane(DB01236)	CAGCTGAGCACGTAAGTTTGC	0.328									Hailey-Hailey disease				6	116					0	0	1	0	0	T	130714955	C	T	130714955	5	4	81	1	0	0	0	0	0	0	1	0	1142	550	19	1	2212	1	ATP2C1	3	130714955	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	262225	130714955	67307475	3314	6930											
ASTE1	28990	broad.mit.edu	37	3	130733175	130733175	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:130733175G>T	ENST00000264992.3	-	6	2207	c.1766C>A	c.(1765-1767)tCt>tAt	p.S589Y	ATP2C1_ENST00000513801.1_Intron|ATP2C1_ENST00000393221.4_Intron|ATP2C1_ENST00000504381.1_Intron|ATP2C1_ENST00000359644.3_Intron|ATP2C1_ENST00000328560.8_Intron|ATP2C1_ENST00000533801.2_Intron|ASTE1_ENST00000514044.1_Missense_Mutation_p.S614Y|ATP2C1_ENST00000507488.2_Intron|ATP2C1_ENST00000422190.2_Intron	NM_014065.2	NP_054784.2	Q2TB18	ASTE1_HUMAN	asteroid homolog 1 (Drosophila)	589					DNA repair		nuclease activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)	22						ACTTTCTACAGAGGTCGATGC	0.428													4	59					5.9392e-07	6.87481e-07	1	1	0	T	130733175	G	T	130733175	3	4	81	1	0	0	0	0	1	0	0	0	1061	942	33	4	277	4	ASTE1	3	130733175	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	18220	130733175	67289255	3315	6931											
DNAJC13	23317	broad.mit.edu	37	3	132169630	132169630	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:132169630T>C	ENST00000260818.6	+	6	724	c.476T>C	c.(475-477)tTt>tCt	p.F159S	DNAJC13_ENST00000486798.1_3'UTR	NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	159							heat shock protein binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						ATTGAAGGATTTGTAGATCTC	0.323													6	66					0	0	1	0	0	C	132169630	T	C	132169630	3	2	81	1	0	0	0	0	1	0	0	0	4659	1841	64	3	494	3	DNAJC13	3	132169630	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	1436455	132169630	65852800	3316	6932											
DNAJC13	23317	broad.mit.edu	37	3	132218639	132218639	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:132218639A>G	ENST00000260818.6	+	38	4651	c.4403A>G	c.(4402-4404)gAc>gGc	p.D1468G		NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	1468							heat shock protein binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						AAACCAAGTGACATGTCAGTA	0.433													78	172					0	0	1	0	0	G	132218639	A	G	132218639	3	3	81	1	0	0	0	0	1	0	0	0	4659	275	10	3	4549	3	DNAJC13	3	132218639	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	49009	132218639	65803791	3317	6933											
ACAD11	84129	broad.mit.edu	37	3	132278741	132278741	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:132278741C>T	ENST00000264990.6	-	19	3135	c.2164G>A	c.(2164-2166)Gtt>Att	p.V722I	ACAD11_ENST00000355458.3_Missense_Mutation_p.V618I|ACAD11_ENST00000545291.1_Missense_Mutation_p.V247I	NM_032169.4	NP_115545			acyl-CoA dehydrogenase family, member 11											breast(2)|endometrium(6)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	36						GCCCAGTCAACGATTTTGCTG	0.438													9	20					0	0	1	0	0	T	132278741	C	T	132278741	3	4	81	1	0	0	0	0	1	0	0	0	109	536	19	1	186	1	ACAD11	3	132278741	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	60102	132278741	65743689	3318	6934											
ACAD11	84129	broad.mit.edu	37	3	132361638	132361638	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:132361638T>G	ENST00000264990.6	-	3	1229	c.258A>C	c.(256-258)agA>agC	p.R86S	ACAD11_ENST00000489991.1_Intron|ACAD11_ENST00000355458.3_Missense_Mutation_p.R86S|ACAD11_ENST00000545291.1_5'UTR|ACAD11_ENST00000481970.2_Missense_Mutation_p.R86S	NM_032169.4	NP_115545			acyl-CoA dehydrogenase family, member 11											breast(2)|endometrium(6)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	36						CTTTAAATTCTCTATCAATCT	0.318													10	67					0	0	1	0	0	G	132361638	T	G	132361638	3	3	81	1	0	0	0	0	1	0	0	0	109	1548	54	5	2156	5	ACAD11	3	132361638	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	82897	132361638	65660792	3319	6935											
NPHP3	27031	broad.mit.edu	37	3	132408040	132408040	+	Nonsense_Mutation	SNP	C	C	A	rs150941925		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:132408040C>A	ENST00000337331.5	-	20	2847	c.2761G>T	c.(2761-2763)Gaa>Taa	p.E921*	NPHP3_ENST00000326682.8_3'UTR	NM_153240.4	NP_694972.3	Q7Z494	NPHP3_HUMAN	nephronophthisis 3 (adolescent)	921					maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway|Wnt receptor signaling pathway	cilium	protein binding			NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TCGAAGTATTCTGTTGCCATT	0.398													10	95					0.0809354	0.0824135	1	1	0	A	132408040	C	A	132408040	4	1	81	1	0	0	0	0	0	1	0	0	10627	922	32	4	1263	4	NPHP3	3	132408040	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	46402	132408040	65614390	3320	6936											
BFSP2	8419	broad.mit.edu	37	3	133118940	133118940	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:133118940C>T	ENST00000302334.2	+	1	102	c.13C>T	c.(13-15)Cga>Tga	p.R5*		NM_003571.2	NP_003562.1	Q13515	BFSP2_HUMAN	beaded filament structural protein 2, phakinin	5	Head.				response to stimulus|visual perception	cytoplasm|intermediate filament|membrane	structural constituent of cytoskeleton|structural constituent of eye lens			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|urinary_tract(1)	13						GAGTGAGAGGCGAGTGGTAGT	0.622													10	98					0	0	1	0	0	T	133118940	C	T	133118940	4	4	81	1	0	0	0	0	0	1	0	0	1415	760	27	1	15	1	BFSP2	3	133118940	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	710900	133118940	64903490	3321	6937											
CDV3	55573	broad.mit.edu	37	3	133306798	133306798	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:133306798G>A	ENST00000264993.3	+	5	1000	c.685G>A	c.(685-687)Gag>Aag	p.E229K	CDV3_ENST00000420115.2_3'UTR|CDV3_ENST00000508481.1_Missense_Mutation_p.E127K|CDV3_ENST00000515421.1_Intron	NM_001134422.1|NM_001282763.1|NM_017548.4	NP_001127894.1|NP_001269692.1|NP_060018.1	Q9UKY7	CDV3_HUMAN	CDV3 homolog (mouse)	229					cell proliferation	cytoplasm				kidney(3)|lung(1)|prostate(1)	5						AGGTAGGGATGAGGTTTCAAA	0.368													41	66					0	0	1	0	0	A	133306798	G	A	133306798	3	1	81	1	0	0	0	0	1	0	0	0	3203	1291	45	2	723	2	CDV3	3	133306798	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	187858	133306798	64715632	3322	6938											
TOPBP1	11073	broad.mit.edu	37	3	133329880	133329880	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:133329880delT	ENST00000260810.5	-	25	4272	c.4141delA	c.(4141-4143)atcfs	p.I1381fs		NM_007027.3	NP_008958.2	Q92547	TOPB1_HUMAN	topoisomerase (DNA) II binding protein 1	1381					DNA repair|response to ionizing radiation	microtubule organizing center|PML body|spindle pole	DNA binding|protein C-terminus binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	40						CTTTGCTGGATTTTTTTTCTC	0.343								Other conserved DNA damage response genes					18	192	---	---	---	---						-	133329880	T	-	133329880	7	5	81	1	0	1	0	1	0	0	0	0	16430	1493	52	0	443	0	TOPBP1	3	133329880	Frame_Shift_Del	DEL	T	TCGA-DU-6392-01A-11D-1705-08	23082	133329880	64692550	3323	6939											
TOPBP1	11073	broad.mit.edu	37	3	133358811	133358811	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:133358811G>A	ENST00000260810.5	-	13	2356	c.2225C>T	c.(2224-2226)aCt>aTt	p.T742I		NM_007027.3	NP_008958.2	Q92547	TOPB1_HUMAN	topoisomerase (DNA) II binding protein 1	742					DNA repair|response to ionizing radiation	microtubule organizing center|PML body|spindle pole	DNA binding|protein C-terminus binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	40						ACCTTCTTTAGTTGAATTTTC	0.363								Other conserved DNA damage response genes					16	25					0	0	1	0	0	A	133358811	G	A	133358811	3	1	81	1	0	0	0	0	1	0	0	0	16430	1029	36	2	2407	2	TOPBP1	3	133358811	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	28931	133358811	64663619	3324	6940											
TOPBP1	11073	broad.mit.edu	37	3	133362997	133362997	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:133362997G>A	ENST00000260810.5	-	11	1846	c.1715C>T	c.(1714-1716)gCa>gTa	p.A572V	TOPBP1_ENST00000511439.1_5'UTR	NM_007027.3	NP_008958.2	Q92547	TOPB1_HUMAN	topoisomerase (DNA) II binding protein 1	572	BRCT 4.				DNA repair|response to ionizing radiation	microtubule organizing center|PML body|spindle pole	DNA binding|protein C-terminus binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	40						TATGATGTTTGCGATGTTAGA	0.403								Other conserved DNA damage response genes					13	26					0	0	1	0	0	A	133362997	G	A	133362997	3	1	81	1	0	0	0	0	1	0	0	0	16430	1319	46	2	2925	2	TOPBP1	3	133362997	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	4186	133362997	64659433	3325	6941											
TF	7018	broad.mit.edu	37	3	133467331	133467331	+	Missense_Mutation	SNP	G	G	A	rs146477698		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:133467331G>A	ENST00000402696.3	+	2	604	c.119G>A	c.(118-120)aGt>aAt	p.S40N	TFP1_ENST00000460564.1_RNA|TF_ENST00000475382.1_3'UTR|TF_ENST00000264998.3_Intron	NM_001063.3	NP_001054	P02787	TRFE_HUMAN	transferrin	40	Transferrin-like 1.				cellular iron ion homeostasis|platelet activation|platelet degranulation|transferrin transport|transmembrane transport	apical plasma membrane|basal plasma membrane|coated pit|early endosome|endocytic vesicle|endosome membrane|extracellular region|late endosome|perinuclear region of cytoplasm|recycling endosome|stored secretory granule	ferric iron binding			NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(7)|large_intestine(13)|liver(2)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49					Aluminium(DB01370)|Bismuth(DB01402)|Iron Dextran(DB00893)	AAGTGCCAGAGTTTCCGCGAC	0.542													14	28					0	0	1	0	0	A	133467331	G	A	133467331	3	1	81	1	0	0	0	0	1	0	0	0	15845	1029	36	2	125	2	TF	3	133467331	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	104334	133467331	64555099	3326	6942											
TF	7018	broad.mit.edu	37	3	133486900	133486900	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:133486900C>A	ENST00000402696.3	+	13	1999	c.1514C>A	c.(1513-1515)cCt>cAt	p.P505H	TF_ENST00000264998.3_Missense_Mutation_p.P378H	NM_001063.3	NP_001054	P02787	TRFE_HUMAN	transferrin	505	Transferrin-like 2.				cellular iron ion homeostasis|platelet activation|platelet degranulation|transferrin transport|transmembrane transport	apical plasma membrane|basal plasma membrane|coated pit|early endosome|endocytic vesicle|endosome membrane|extracellular region|late endosome|perinuclear region of cytoplasm|recycling endosome|stored secretory granule	ferric iron binding			NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(7)|large_intestine(13)|liver(2)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49					Aluminium(DB01370)|Bismuth(DB01402)|Iron Dextran(DB00893)	GGTTGTGCCCCTGGGTCTAAG	0.463													6	108					3.59834e-05	3.99423e-05	1	1	0	A	133486900	C	A	133486900	3	1	81	1	0	0	0	0	1	0	0	0	15845	681	24	4	1564	4	TF	3	133486900	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	19569	133486900	64535530	3327	6943											
SLCO2A1	6578	broad.mit.edu	37	3	133653645	133653645	+	Missense_Mutation	SNP	G	G	A	rs148426132		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:133653645G>A	ENST00000310926.4	-	14	2117	c.1844C>T	c.(1843-1845)gCg>gTg	p.A615V	SLCO2A1_ENST00000493729.1_Missense_Mutation_p.A539V	NM_005630.2	NP_005621.2	Q92959	SO2A1_HUMAN	solute carrier organic anion transporter family, member 2A1	615					sodium-independent organic anion transport	integral to plasma membrane|membrane fraction	prostaglandin transmembrane transporter activity|protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2)	30						CATGCCCAGCGCCTTGTAGCC	0.632													12	23					0	0	1	0	0	A	133653645	G	A	133653645	3	1	81	1	0	0	0	0	1	0	0	0	14781	1087	38	1	91	1	SLCO2A1	3	133653645	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	166745	133653645	64368785	3328	6944											
RYK	6259	broad.mit.edu	37	3	133896788	133896788	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:133896788T>C	ENST00000427044.2	-	12	1345	c.735A>G	c.(733-735)ccA>ccG	p.P245P	RYK_ENST00000296084.4_Silent_p.P435P			P34925	RYK_HUMAN	receptor-like tyrosine kinase	431					corpus callosum development|positive regulation of MAPKKK cascade|Wnt receptor signaling pathway	cytoplasm|integral to plasma membrane|nucleus	ATP binding|transmembrane receptor protein tyrosine kinase activity			lung(1)|ovary(3)	4						TTCTCACCTGTGGATTATTGG	0.328													4	44					0	0	1	0	0	C	133896788	T	C	133896788	2	2	81	1	0	0	0	0	0	0	0	1	13819	1683	59	3		3	RYK	3	133896788	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	243143	133896788	64125642	3329	6945											
AMOTL2	51421	broad.mit.edu	37	3	134085261	134085261	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:134085261G>A	ENST00000514516.1	-	4	1402	c.1224C>T	c.(1222-1224)agC>agT	p.S408S	AMOTL2_ENST00000513145.1_Silent_p.S350S|AMOTL2_ENST00000422605.2_Silent_p.S350S|AMOTL2_ENST00000249883.5_Silent_p.S350S	NM_001278683.1	NP_001265612.1	Q9Y2J4	AMOL2_HUMAN	angiomotin like 2	350										endometrium(8)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	19						GCTGGATTTCGCTTTCCAGCT	0.562													6	64					0	0	1	0	0	A	134085261	G	A	134085261	2	1	81	1	0	0	0	0	0	0	0	1	580	1078	38	1		1	AMOTL2	3	134085261	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	188473	134085261	63937169	3330	6946											
CEP63	80254	broad.mit.edu	37	3	134277156	134277156	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:134277156G>T	ENST00000337090.3	+	13	1813	c.1640G>T	c.(1639-1641)aGc>aTc	p.S547I	CEP63_ENST00000354446.3_Intron|CEP63_ENST00000383229.3_Intron|CEP63_ENST00000332047.5_Intron|CEP63_ENST00000513612.2_Missense_Mutation_p.S547I|CEP63_ENST00000606977.1_Missense_Mutation_p.S547I			Q96MT8	CEP63_HUMAN	centrosomal protein 63kDa	547					cell division|DNA damage checkpoint|G2/M transition of mitotic cell cycle|mitosis|signal transduction in response to DNA damage|spindle assembly	centrosome|cytosol|spindle pole	protein binding			kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						CCAACACACAGCAGAACAACT	0.299													4	57					1.23904e-05	1.39156e-05	1	1	0	T	134277156	G	T	134277156	3	4	81	1	0	0	0	0	1	0	0	0	3279	971	34	4	1686	4	CEP63	3	134277156	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	191895	134277156	63745274	3331	6947											
CEP63	80254	broad.mit.edu	37	3	134278117	134278117	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:134278117G>A	ENST00000337090.3	+	14	1972	c.1799G>A	c.(1798-1800)aGt>aAt	p.S600N	CEP63_ENST00000354446.3_Intron|CEP63_ENST00000383229.3_Intron|CEP63_ENST00000332047.5_Intron|CEP63_ENST00000513612.2_Missense_Mutation_p.S600N|CEP63_ENST00000606977.1_Missense_Mutation_p.S600N			Q96MT8	CEP63_HUMAN	centrosomal protein 63kDa	600					cell division|DNA damage checkpoint|G2/M transition of mitotic cell cycle|mitosis|signal transduction in response to DNA damage|spindle assembly	centrosome|cytosol|spindle pole	protein binding			kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						AGCCCCCTGAGTCCTCAAATC	0.453													79	102					0	0	1	0	0	A	134278117	G	A	134278117	3	1	81	1	0	0	0	0	1	0	0	0	3279	1029	36	2	1849	2	CEP63	3	134278117	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	961	134278117	63744313	3332	6948											
EPHB1	2047	broad.mit.edu	37	3	134881021	134881021	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:134881021C>T	ENST00000398015.3	+	7	1954	c.1584C>T	c.(1582-1584)gaC>gaT	p.D528D	EPHB1_ENST00000493838.1_Splice_Site_p.D89D	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	528						integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						CTCTGACTGACGGTAAGGGTC	0.562													18	34					0	0	1	0	0	T	134881021	C	T	134881021	5	4	81	1	0	0	0	0	0	0	1	0	5202	550	19	1	1610	1	EPHB1	3	134881021	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	602904	134881021	63141409	3333	6949											
PPP2R3A	5523	broad.mit.edu	37	3	135806764	135806764	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:135806764C>T	ENST00000264977.3	+	9	3445	c.2828C>T	c.(2827-2829)gCa>gTa	p.A943V	PPP2R3A_ENST00000334546.2_Missense_Mutation_p.A322V|PPP2R3A_ENST00000490467.1_Missense_Mutation_p.A207V	NM_001190447.1|NM_002718.4	NP_001177376.1|NP_002709.2	Q06190	P2R3A_HUMAN	protein phosphatase 2, regulatory subunit B'', alpha	943					protein dephosphorylation	protein phosphatase type 2A complex	calcium ion binding|protein binding|protein phosphatase type 2A regulator activity			breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						TTCTCTGGTGCAGTAACAAGG	0.318													20	52					0	0	1	0	0	T	135806764	C	T	135806764	3	4	81	1	0	0	0	0	1	0	0	0	12437	710	25	2	2994	2	PPP2R3A	3	135806764	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	925743	135806764	62215666	3334	6950											
MSL2	55167	broad.mit.edu	37	3	135870463	135870463	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:135870463G>T	ENST00000309993.2	-	2	1992	c.1260C>A	c.(1258-1260)caC>caA	p.H420Q	MSL2_ENST00000434835.2_Missense_Mutation_p.H346Q	NM_018133.3	NP_060603.2	Q9HCI7	MSL2_HUMAN	male-specific lethal 2 homolog (Drosophila)	420	Lys-rich.				histone H4-K16 acetylation	MSL complex	zinc ion binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	18						TGGTTTTAGAGTGAGATTTCT	0.373													9	129					7.48243e-07	8.64403e-07	1	1	0	T	135870463	G	T	135870463	3	4	81	1	0	0	0	0	1	0	0	0	9927	1020	36	4	477	4	MSL2	3	135870463	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	63699	135870463	62151967	3335	6951											
MSL2	55167	broad.mit.edu	37	3	135871112	135871112	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:135871112C>A	ENST00000309993.2	-	2	1343	c.611G>T	c.(610-612)aGa>aTa	p.R204I	MSL2_ENST00000434835.2_Missense_Mutation_p.R130I	NM_018133.3	NP_060603.2	Q9HCI7	MSL2_HUMAN	male-specific lethal 2 homolog (Drosophila)	204					histone H4-K16 acetylation	MSL complex	zinc ion binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	18						TATACCAAATCTATCTATTGA	0.388													20	29					1.87028e-06	2.14967e-06	1	1	0	A	135871112	C	A	135871112	3	1	81	1	0	0	0	0	1	0	0	0	9927	913	32	4	1126	4	MSL2	3	135871112	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	649	135871112	62151318	3336	6952											
PCCB	5096	broad.mit.edu	37	3	136045702	136045702	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:136045702C>T	ENST00000471595.1	+	11	1166	c.1148C>T	c.(1147-1149)gCa>gTa	p.A383V	PCCB_ENST00000474833.1_3'UTR|PCCB_ENST00000478469.1_Intron|PCCB_ENST00000251654.4_Missense_Mutation_p.A383V|PCCB_ENST00000462637.1_Missense_Mutation_p.A360V|PCCB_ENST00000482086.1_Missense_Mutation_p.A267V|PCCB_ENST00000469217.1_Missense_Mutation_p.A403V|PCCB_ENST00000483687.1_Missense_Mutation_p.A364V|PCCB_ENST00000490504.1_Missense_Mutation_p.A326V|PCCB_ENST00000466072.1_Missense_Mutation_p.A403V|PCCB_ENST00000468777.1_Missense_Mutation_p.A414V			P05166	PCCB_HUMAN	propionyl CoA carboxylase, beta polypeptide	383	Carboxyltransferase.				fatty acid beta-oxidation	mitochondrial matrix	ATP binding|propionyl-CoA carboxylase activity			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|urinary_tract(1)	25					Biotin(DB00121)|L-Valine(DB00161)	TTCTGTGATGCATTCAATATT	0.428													53	86					0	0	1	0	0	T	136045702	C	T	136045702	3	4	81	1	0	0	0	0	1	0	0	0	11552	710	25	2	1254	2	PCCB	3	136045702	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	174590	136045702	61976728	3337	6953											
PCCB	5096	broad.mit.edu	37	3	136048855	136048855	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:136048855A>C	ENST00000468777.1	+	16	1721	c.1700A>C	c.(1699-1701)aAt>aCt	p.N567T	PCCB_ENST00000478469.1_Intron|PCCB_ENST00000251654.4_Missense_Mutation_p.N536T|PCCB_ENST00000462637.1_Missense_Mutation_p.N513T|PCCB_ENST00000482086.1_Missense_Mutation_p.N420T|PCCB_ENST00000471595.1_Intron|PCCB_ENST00000469217.1_Missense_Mutation_p.N556T|PCCB_ENST00000483687.1_Missense_Mutation_p.N517T|PCCB_ENST00000490504.1_Missense_Mutation_p.N479T|PCCB_ENST00000466072.1_Missense_Mutation_p.N556T			P05166	PCCB_HUMAN	propionyl CoA carboxylase, beta polypeptide	536					fatty acid beta-oxidation	mitochondrial matrix	ATP binding|propionyl-CoA carboxylase activity			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|urinary_tract(1)	25					Biotin(DB00121)|L-Valine(DB00161)	AAACATGCAAATATTCCATTG	0.443													8	67					0	0	1	0	0	C	136048855	A	C	136048855	3	2	81	1	0	0	0	0	1	0	0	0	11552	101	4	4	1729	4	PCCB	3	136048855	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	3153	136048855	61973575	3338	6954											
STAG1	10274	broad.mit.edu	37	3	136076622	136076622	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:136076622G>A	ENST00000383202.2	-	28	3261	c.3005C>T	c.(3004-3006)gCt>gTt	p.A1002V	STAG1_ENST00000434713.2_Missense_Mutation_p.A742V|STAG1_ENST00000536929.1_Missense_Mutation_p.A586V|STAG1_ENST00000236698.5_Missense_Mutation_p.A1002V	NM_005862.2	NP_005853.2	Q8WVM7	STAG1_HUMAN	stromal antigen 1	1002					cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase	cell junction|chromatin|chromosome, centromeric region|nucleoplasm	protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						TTCAAGAAAAGCCAGATTAGG	0.323													8	58					0	0	1	0	0	A	136076622	G	A	136076622	3	1	81	1	0	0	0	0	1	0	0	0	15298	971	34	2	799	2	STAG1	3	136076622	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	27767	136076622	61945808	3339	6955											
STAG1	10274	broad.mit.edu	37	3	136260977	136260977	+	Translation_Start_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:136260977G>T	ENST00000434713.2	-	0	951				STAG1_ENST00000480733.1_Missense_Mutation_p.T152N|STAG1_ENST00000383202.2_Missense_Mutation_p.T152N|STAG1_ENST00000236698.5_Missense_Mutation_p.T152N			Q8WVM7	STAG1_HUMAN	stromal antigen 1						cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase	cell junction|chromatin|chromosome, centromeric region|nucleoplasm	protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						AAATTCTTCAGTCATTTTTCT	0.299													27	49					2.12542e-12	2.65769e-12	1	1	0	T	136260977	G	T	136260977	1	4	81	1	0	0	0	0	0	0	0	0	15298	1029	36	4		4	STAG1	3	136260977	Translation_Start_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	184355	136260977	61761453	3340	6956											
NCK1	4690	broad.mit.edu	37	3	136665137	136665137	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:136665137G>A	ENST00000469404.1	+	2	838	c.747G>A	c.(745-747)tcG>tcA	p.S249S	IL20RB_ENST00000484501.1_3'UTR|NCK1_ENST00000481752.1_Splice_Site_p.S313S|NCK1_ENST00000288986.2_Splice_Site_p.S313S	NM_001190796.1	NP_001177725.1	P16333	NCK1_HUMAN	NCK adaptor protein 1	313	SH3 3.				axon guidance|positive regulation of actin filament polymerization|positive regulation of T cell proliferation|regulation of translation|signal complex assembly|T cell activation|T cell receptor signaling pathway	cytosol|endoplasmic reticulum|nucleus	cytoskeletal adaptor activity|receptor binding|receptor signaling complex scaffold activity			cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	13						GTGAATCTTCGGTAAGTTGAT	0.388													29	75					0	0	1	0	0	A	136665137	G	A	136665137	5	1	81	1	0	0	0	0	0	0	1	0	10266	1130	39	1	945	1	NCK1	3	136665137	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	404160	136665137	61357293	3341	6957											
IL20RB	53833	broad.mit.edu	37	3	136699435	136699435	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:136699435G>T	ENST00000329582.4	+	2	464		c.e2+1		IL20RB_ENST00000484501.1_Intron|IL20RB_ENST00000309741.5_Splice_Site|IL20RB-AS1_ENST00000462176.2_RNA	NM_144717.3	NP_653318.2	Q6UXL0	I20RB_HUMAN	interleukin 20 receptor beta							integral to membrane	receptor activity			kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14						AATACCAGGGGTGAGTTTTTT	0.478													52	71					9.45407e-15	1.20216e-14	1	1	0	T	136699435	G	T	136699435	5	4	81	1	0	0	0	0	0	0	1	0	7713	1275	44	5	222	5	IL20RB	3	136699435	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	34298	136699435	61322995	3342	6958											
DZIP1L	199221	broad.mit.edu	37	3	137790485	137790485	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:137790485C>A	ENST00000327532.2	-	12	1977	c.1615G>T	c.(1615-1617)Gtc>Ttc	p.V539F	DZIP1L_ENST00000488595.1_Intron|DZIP1L_ENST00000469243.1_Splice_Site_p.G539C	NM_173543.2	NP_775814.2	Q8IYY4	DZI1L_HUMAN	DAZ interacting zinc finger protein 1-like	539						intracellular	zinc ion binding			breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(2)|prostate(1)|skin(1)	35						CCCAGTGTACCTGAAGGCTGC	0.562													13	25					7.03913e-09	8.42519e-09	1	1	0	A	137790485	C	A	137790485	5	1	81	1	0	0	0	0	0	0	1	0	4890	695	24	4	717	4	DZIP1L	3	137790485	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1091050	137790485	60231945	3343	6959											
DZIP1L	199221	broad.mit.edu	37	3	137813726	137813726	+	Missense_Mutation	SNP	G	G	A	rs148594666	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:137813726G>A	ENST00000327532.2	-	4	1048	c.686C>T	c.(685-687)gCg>gTg	p.A229V	DZIP1L_ENST00000469243.1_Missense_Mutation_p.A229V	NM_173543.2	NP_775814.2	Q8IYY4	DZI1L_HUMAN	DAZ interacting zinc finger protein 1-like	229						intracellular	zinc ion binding	p.A229V(1)		breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(2)|prostate(1)|skin(1)	35						CTGCCTCTCCGCCTCCCTCTG	0.567													31	45					0	0	1	0	0	A	137813726	G	A	137813726	3	1	81	1	0	0	0	0	1	0	0	0	4890	1087	38	1	1678	1	DZIP1L	3	137813726	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	23241	137813726	60208704	3344	6960											
DBR1	51163	broad.mit.edu	37	3	137881272	137881272	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:137881272G>T	ENST00000260803.4	-	8	1247	c.1094C>A	c.(1093-1095)cCt>cAt	p.P365H	DBR1_ENST00000505015.2_Missense_Mutation_p.P131H	NM_016216.3	NP_057300.2	Q9UK59	DBR1_HUMAN	debranching RNA lariats 1	365						nucleus	metal ion binding|RNA lariat debranching enzyme activity			NS(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						AGTTGTCTGAGGATTGATCCT	0.403													28	47					2.46105e-21	3.22097e-21	1	1	0	T	137881272	G	T	137881272	3	4	81	1	0	0	0	0	1	0	0	0	4281	1000	35	4	544	4	DBR1	3	137881272	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	67546	137881272	60141158	3345	6961											
DBR1	51163	broad.mit.edu	37	3	137890476	137890476	+	Splice_Site	SNP	T	T	G	rs34737927		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:137890476T>G	ENST00000260803.4	-	3	555	c.402A>C	c.(400-402)aaA>aaC	p.K134N	DBR1_ENST00000505015.2_5'UTR|DBR1_ENST00000463982.2_5'UTR	NM_016216.3	NP_057300.2	Q9UK59	DBR1_HUMAN	debranching RNA lariats 1	134						nucleus	metal ion binding|RNA lariat debranching enzyme activity			NS(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						AAACAATACCTTTTCGATAGT	0.338													7	59					0	0	1	0	0	G	137890476	T	G	137890476	5	3	81	1	0	0	0	0	0	0	1	0	4281	1623	56	5	1256	5	DBR1	3	137890476	Splice_Site	SNP	T	TCGA-DU-6392-01A-11D-1705-08	9204	137890476	60131954	3346	6962											
ARMC8	25852	broad.mit.edu	37	3	137982647	137982647	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:137982647C>T	ENST00000469044.1	+	13	1472	c.1201C>T	c.(1201-1203)Cgg>Tgg	p.R401W	NME9_ENST00000536478.1_Intron|NME9_ENST00000484930.1_Intron|ARMC8_ENST00000485396.1_Missense_Mutation_p.R328W|ARMC8_ENST00000481646.1_Missense_Mutation_p.R387W|NME9_ENST00000383180.2_Intron|ARMC8_ENST00000461822.1_Missense_Mutation_p.R334W|NME9_ENST00000341790.5_Intron|ARMC8_ENST00000393058.3_Missense_Mutation_p.R391W|ARMC8_ENST00000538260.1_Missense_Mutation_p.R370W|ARMC8_ENST00000491704.1_Missense_Mutation_p.R359W|NME9_ENST00000317876.4_Intron	NM_001267041.1|NM_001267042.1	NP_001253970.1|NP_001253971.1	Q8IUR7	ARMC8_HUMAN	armadillo repeat containing 8	401							binding			endometrium(2)|kidney(1)|large_intestine(7)|lung(5)|upper_aerodigestive_tract(1)	16						TGTCAAGGTGCGGTTAGCTGC	0.393													66	84					0	0	1	0	0	T	137982647	C	T	137982647	3	4	81	1	0	0	0	0	1	0	0	0	956	759	27	1	1275	1	ARMC8	3	137982647	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	92171	137982647	60039783	3347	6963											
MRAS	22808	broad.mit.edu	37	3	138091848	138091848	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:138091848C>A	ENST00000289104.4	+	2	770	c.123C>A	c.(121-123)gaC>gaA	p.D41E	MRAS_ENST00000464896.1_Intron|MRAS_ENST00000474559.1_Missense_Mutation_p.D41E|MRAS_ENST00000423968.2_Missense_Mutation_p.D41E	NM_001085049.2|NM_001252090.1|NM_001252091.1|NM_012219.4	NP_001078518.1|NP_001239019.1|NP_001239020.1|NP_036351.3	O14807	RASM_HUMAN	muscle RAS oncogene homolog	41					actin cytoskeleton organization|muscle organ development|Ras protein signal transduction	intracellular|plasma membrane	GTP binding|GTP-dependent protein binding|GTPase activity			kidney(1)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	14						TTGTGCCTGACTATGACCCCA	0.542													18	126					2.94398e-08	3.49414e-08	1	1	0	A	138091848	C	A	138091848	3	1	81	1	0	0	0	0	1	0	0	0	9804	564	20	4	125	4	MRAS	3	138091848	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	109201	138091848	59930582	3348	6964											
ESYT3	83850	broad.mit.edu	37	3	138187662	138187662	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:138187662G>T	ENST00000389567.4	+	14	1559	c.1373G>T	c.(1372-1374)aGa>aTa	p.R458I		NM_031913.3	NP_114119.2	A0FGR9	ESYT3_HUMAN	extended synaptotagmin-like protein 3	458	C2 2.					integral to membrane|plasma membrane				breast(1)|endometrium(5)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	25						GTGCTGCAGAGAAACCCTTTT	0.468													118	171					1.1727e-76	1.58106e-76	1	1	0	T	138187662	G	T	138187662	5	4	81	1	0	0	0	0	0	0	1	0	5294	956	33	4	1427	4	ESYT3	3	138187662	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	95814	138187662	59834768	3349	6965											
ESYT3	83850	broad.mit.edu	37	3	138189867	138189867	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:138189867G>A	ENST00000389567.4	+	17	1925	c.1739G>A	c.(1738-1740)cGg>cAg	p.R580Q		NM_031913.3	NP_114119.2	A0FGR9	ESYT3_HUMAN	extended synaptotagmin-like protein 3	580						integral to membrane|plasma membrane				breast(1)|endometrium(5)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	25						CTGGTGCTTCGGGTAAATCTC	0.592													8	68					0	0	1	0	0	A	138189867	G	A	138189867	5	1	81	1	0	0	0	0	0	0	1	0	5294	1130	39	1	1805	1	ESYT3	3	138189867	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2205	138189867	59832563	3350	6966											
CEP70	80321	broad.mit.edu	37	3	138256110	138256110	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:138256110A>G	ENST00000264982.3	-	7	811	c.545T>C	c.(544-546)tTa>tCa	p.L182S	CEP70_ENST00000464035.1_Missense_Mutation_p.L182S|CEP70_ENST00000484888.1_Missense_Mutation_p.L182S|CEP70_ENST00000478673.1_5'UTR|CEP70_ENST00000542237.1_Missense_Mutation_p.L162S|CEP70_ENST00000489254.1_Missense_Mutation_p.L30S|CEP70_ENST00000481834.1_Missense_Mutation_p.L182S	NM_024491.2	NP_077817.2	Q8NHQ1	CEP70_HUMAN	centrosomal protein 70kDa	182					G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	24						CTCCTTTTTTAATCTACAGAC	0.358													31	29					0	0	1	0	0	G	138256110	A	G	138256110	3	3	81	1	0	0	0	0	1	0	0	0	3281	372	13	3	1296	3	CEP70	3	138256110	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	66243	138256110	59766320	3351	6967											
PIK3CB	5291	broad.mit.edu	37	3	138426069	138426069	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:138426069C>T	ENST00000477593.1	-	10	1535	c.1462G>A	c.(1462-1464)Gca>Aca	p.A488T	PIK3CB_ENST00000289153.2_Missense_Mutation_p.A488T|PIK3CB_ENST00000544716.1_Intron			P42338	PK3CB_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta	488					activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						AAAGCTGTTGCATTTTCAGTA	0.313													8	47					0	0	1	0	0	T	138426069	C	T	138426069	3	4	81	1	0	0	0	0	1	0	0	0	11962	710	25	2	1804	2	PIK3CB	3	138426069	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	169959	138426069	59596361	3352	6968											
PIK3CB	5291	broad.mit.edu	37	3	138461598	138461598	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:138461598C>A	ENST00000477593.1	-	4	496	c.423G>T	c.(421-423)aaG>aaT	p.K141N	PIK3CB_ENST00000289153.2_Missense_Mutation_p.K141N			P42338	PK3CB_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta	141					activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						CTTCAGGATCCTTCAAGGAAT	0.323													4	48					0.000602214	0.000646338	1	1	0	A	138461598	C	A	138461598	3	1	81	1	0	0	0	0	1	0	0	0	11962	680	24	4	2867	4	PIK3CB	3	138461598	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	35529	138461598	59560832	3353	6969											
FOXL2	668	broad.mit.edu	37	3	138664485	138664485	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:138664485G>A	ENST00000330315.3	-	1	1497	c.1080C>T	c.(1078-1080)taC>taT	p.Y360Y		NM_023067.3	NP_075555.1	P58012	FOXL2_HUMAN	forkhead box L2	360					convergent extension|DNA fragmentation involved in apoptotic nuclear change|embryonic eye morphogenesis|extraocular skeletal muscle development|female somatic sex determination|induction of apoptosis|menstruation|negative regulation of transcription, DNA-dependent|ovarian follicle development|pattern specification process|positive regulation of caspase activity|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	caspase regulator activity|DNA bending activity|double-stranded DNA binding|estrogen receptor binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|ubiquitin conjugating enzyme binding			large_intestine(1)|lung(1)|ovary(333)|skin(1)	336						CGTGGTCCCAGTAAGAGCAAT	0.711			Mis		granulosa-cell tumour of the ovary		"Blepharophimosis, ptosis and epicanthus inversus Types I, II; Premature ovarian failure type III"						15	23					0	0	1	0	0	A	138664485	G	A	138664485	2	1	81	1	0	0	0	0	0	0	0	1	6051	1024	36	2		2	FOXL2	3	138664485	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	202887	138664485	59357945	3354	6970											
MRPS22	56945	broad.mit.edu	37	3	139069024	139069024	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:139069024C>T	ENST00000495075.1	+	6	940	c.508C>T	c.(508-510)Cgt>Tgt	p.R170C	MRPS22_ENST00000465056.1_Missense_Mutation_p.R169C|MRPS22_ENST00000478464.1_Missense_Mutation_p.R129C|MRPS22_ENST00000310776.4_Missense_Mutation_p.R170C			P82650	RT22_HUMAN	mitochondrial ribosomal protein S22	170			R -> H (in COXPD5).			mitochondrial small ribosomal subunit	protein binding|structural constituent of ribosome			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	12						ATTTTAGGAGCGTTTTATTGT	0.398													18	28					0	0	1	0	0	T	139069024	C	T	139069024	3	4	81	1	0	0	0	0	1	0	0	0	9882	768	27	1	522	1	MRPS22	3	139069024	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	404539	139069024	58953406	3355	6971											
COPB2	9276	broad.mit.edu	37	3	139079976	139079976	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:139079976C>T	ENST00000333188.5	-	17	2338	c.2157G>A	c.(2155-2157)gcG>gcA	p.A719A	COPB2_ENST00000507777.1_Silent_p.A690A	NM_004766.2	NP_004757.1	P35606	COPB2_HUMAN	coatomer protein complex, subunit beta 2 (beta prime)	719					COPI coating of Golgi vesicle|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol	protein binding|structural molecule activity	p.A719A(1)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	24						CATCTCTCTCCGCACCCTCTG	0.443													20	186					0	0	1	0	0	T	139079976	C	T	139079976	2	4	81	1	0	0	0	0	0	0	0	1	3752	639	23	1		1	COPB2	3	139079976	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	10952	139079976	58942454	3356	6972											
COPB2	9276	broad.mit.edu	37	3	139085532	139085532	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:139085532G>T	ENST00000333188.5	-	15	1943	c.1762C>A	c.(1762-1764)Ctg>Atg	p.L588M	COPB2_ENST00000507777.1_Missense_Mutation_p.L559M	NM_004766.2	NP_004757.1	P35606	COPB2_HUMAN	coatomer protein complex, subunit beta 2 (beta prime)	588					COPI coating of Golgi vesicle|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol	protein binding|structural molecule activity			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	24						ACTGAAACCAGCAGGGAATAG	0.443													5	73					0.184627	0.18622	1	1	0	T	139085532	G	T	139085532	3	4	81	1	0	0	0	0	1	0	0	0	3752	962	34	4	990	4	COPB2	3	139085532	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	5556	139085532	58936898	3357	6973											
COPB2	9276	broad.mit.edu	37	3	139090653	139090653	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:139090653C>A	ENST00000333188.5	-	10	1298	c.1117G>T	c.(1117-1119)Ggg>Tgg	p.G373W	COPB2_ENST00000507777.1_Missense_Mutation_p.G344W	NM_004766.2	NP_004757.1	P35606	COPB2_HUMAN	coatomer protein complex, subunit beta 2 (beta prime)	373					COPI coating of Golgi vesicle|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol	protein binding|structural molecule activity			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	24						ATATACTCCCCATCACCACAC	0.433													18	33					1.00905e-13	1.27467e-13	1	1	0	A	139090653	C	A	139090653	3	1	81	1	0	0	0	0	1	0	0	0	3752	594	21	5	1655	5	COPB2	3	139090653	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	5121	139090653	58931777	3358	6974											
COPB2	9276	broad.mit.edu	37	3	139092102	139092102	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:139092102G>A	ENST00000333188.5	-	9	1228	c.1047C>T	c.(1045-1047)ggC>ggT	p.G349G	COPB2_ENST00000507777.1_Silent_p.G320G	NM_004766.2	NP_004757.1	P35606	COPB2_HUMAN	coatomer protein complex, subunit beta 2 (beta prime)	349					COPI coating of Golgi vesicle|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol	protein binding|structural molecule activity			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	24						TTTCACAACTGCCCATATCCT	0.448													31	68					0	0	1	0	0	A	139092102	G	A	139092102	2	1	81	1	0	0	0	0	0	0	0	1	3752	1306	46	2		2	COPB2	3	139092102	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1449	139092102	58930328	3359	6975											
COPB2	9276	broad.mit.edu	37	3	139092254	139092254	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:139092254G>A	ENST00000333188.5	-	9	1076	c.895C>T	c.(895-897)Ctt>Ttt	p.L299F	COPB2_ENST00000507777.1_Splice_Site_p.L270F	NM_004766.2	NP_004757.1	P35606	COPB2_HUMAN	coatomer protein complex, subunit beta 2 (beta prime)	299					COPI coating of Golgi vesicle|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol	protein binding|structural molecule activity			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	24						TCCCGACCAAGCTGAAAGAAA	0.408													4	29					0	0	1	0	0	A	139092254	G	A	139092254	5	1	81	1	0	0	0	0	0	0	1	0	3752	985	34	2	1881	2	COPB2	3	139092254	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	152	139092254	58930176	3360	6976											
RBP1	5947	broad.mit.edu	37	3	139257633	139257633	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:139257633C>T	ENST00000483943.2	-	2	428	c.428G>A	c.(427-429)cGc>cAc	p.R143H	RBP1_ENST00000232219.2_Missense_Mutation_p.R143H|RP11-319G6.1_ENST00000515247.1_RNA|RBP1_ENST00000492918.1_Missense_Mutation_p.R143H	NM_001130993.1	NP_001124465.1	P09455	RET1_HUMAN	retinol binding protein 1, cellular	81						cytoplasm	retinal binding|retinol binding|transporter activity			endometrium(1)|large_intestine(2)|lung(1)|prostate(1)	5					Vitamin A(DB00162)	CATGCACTTGCGGTCATCTAT	0.572													21	58					0	0	1	0	0	T	139257633	C	T	139257633	3	4	81	1	0	0	0	0	1	0	0	0	13207	768	27	1	245	1	RBP1	3	139257633	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	165379	139257633	58764797	3361	6977											
NMNAT3	349565	broad.mit.edu	37	3	139280028	139280028	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:139280028G>A	ENST00000406824.1	-	7	1447	c.253C>T	c.(253-255)Cct>Tct	p.P85S	NMNAT3_ENST00000339837.5_Missense_Mutation_p.P158S|RP11-319G6.1_ENST00000381790.3_RNA|RP11-319G6.1_ENST00000515247.1_RNA|NMNAT3_ENST00000507242.1_5'UTR|NMNAT3_ENST00000406164.1_Missense_Mutation_p.P158S|NMNAT3_ENST00000413939.2_Missense_Mutation_p.P106S|NMNAT3_ENST00000296202.7_Missense_Mutation_p.P195S|NMNAT3_ENST00000511444.1_3'UTR			Q96T66	NMNA3_HUMAN	nicotinamide nucleotide adenylyltransferase 3	195					water-soluble vitamin metabolic process	cytosol|mitochondrion	ATP binding|nicotinamide-nucleotide adenylyltransferase activity|nicotinate-nucleotide adenylyltransferase activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(4)	9						TTCTGCACAGGCTCCTTGGCC	0.542													28	33					0	0	1	0	0	A	139280028	G	A	139280028	3	1	81	1	0	0	0	0	1	0	0	0	10547	1203	42	2	179	2	NMNAT3	3	139280028	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	22395	139280028	58742402	3362	6978											
CLSTN2	64084	broad.mit.edu	37	3	139894901	139894901	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:139894901C>T	ENST00000458420.3	+	2	408	c.218C>T	c.(217-219)cCg>cTg	p.P73L		NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	73	Cadherin 1.				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						AAAGATGCACCGGTTCCTTTT	0.478										HNSCC(16;0.037)			17	22					0	0	1	0	0	T	139894901	C	T	139894901	3	4	81	1	0	0	0	0	1	0	0	0	3585	652	23	1	224	1	CLSTN2	3	139894901	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	614873	139894901	58127529	3363	6979											
CLSTN2	64084	broad.mit.edu	37	3	140123471	140123471	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:140123471C>T	ENST00000458420.3	+	4	690	c.500C>T	c.(499-501)gCt>gTt	p.A167V		NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	167	Cadherin 2.				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						GCCTACAAGGCTGTTGTGACG	0.532										HNSCC(16;0.037)			31	35					0	0	1	0	0	T	140123471	C	T	140123471	3	4	81	1	0	0	0	0	1	0	0	0	3585	797	28	2	514	2	CLSTN2	3	140123471	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	228570	140123471	57898959	3364	6980											
CLSTN2	64084	broad.mit.edu	37	3	140185494	140185494	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:140185494G>A	ENST00000458420.3	+	8	1455	c.1265G>A	c.(1264-1266)cGc>cAc	p.R422H		NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	422					homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						CACAACTGCCGCCTCGTCTTT	0.547										HNSCC(16;0.037)			28	30					0	0	1	0	0	A	140185494	G	A	140185494	3	1	81	1	0	0	0	0	1	0	0	0	3585	1087	38	1	1295	1	CLSTN2	3	140185494	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	62023	140185494	57836936	3365	6981											
TRIM42	287015	broad.mit.edu	37	3	140401710	140401710	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:140401710C>T	ENST00000286349.3	+	2	939	c.748C>T	c.(748-750)Cgc>Tgc	p.R250C		NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN	tripartite motif containing 42	250						intracellular	zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						CGCTTACAAGCGCTGCATCAC	0.622													19	26					0	0	1	0	0	T	140401710	C	T	140401710	3	4	81	1	0	0	0	0	1	0	0	0	16578	768	27	1	754	1	TRIM42	3	140401710	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	216216	140401710	57620720	3366	6982											
TRIM42	287015	broad.mit.edu	37	3	140407030	140407030	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:140407030C>T	ENST00000286349.3	+	3	1697	c.1506C>T	c.(1504-1506)gaC>gaT	p.D502D		NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN	tripartite motif containing 42	502						intracellular	zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						CCTCAGGGGACTCCCTGCCCT	0.557													15	28					0	0	1	0	0	T	140407030	C	T	140407030	2	4	81	1	0	0	0	0	0	0	0	1	16578	564	20	2		2	TRIM42	3	140407030	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	5320	140407030	57615400	3367	6983											
TRIM42	287015	broad.mit.edu	37	3	140409860	140409860	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:140409860C>T	ENST00000286349.3	+	4	2102	c.1911C>T	c.(1909-1911)ttC>ttT	p.F637F		NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN	tripartite motif containing 42	637	Fibronectin type-III.					intracellular	zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						AGATGGAATTCTATGAAGTCA	0.433													36	64					0	0	1	0	0	T	140409860	C	T	140409860	2	4	81	1	0	0	0	0	0	0	0	1	16578	912	32	2		2	TRIM42	3	140409860	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2830	140409860	57612570	3368	6984											
TRIM42	287015	broad.mit.edu	37	3	140419810	140419810	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:140419810C>T	ENST00000286349.3	+	5	2357	c.2166C>T	c.(2164-2166)caC>caT	p.H722H		NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN	tripartite motif containing 42	722						intracellular	zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						TCCAGAAGCACTTCTGAGCCC	0.458													15	23					0	0	1	0	0	T	140419810	C	T	140419810	2	4	81	1	0	0	0	0	0	0	0	1	16578	564	20	2		2	TRIM42	3	140419810	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	9950	140419810	57602620	3369	6985											
ACPL2	92370	broad.mit.edu	37	3	140997342	140997342	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:140997342G>T	ENST00000508812.1	+	2	2118	c.211G>T	c.(211-213)Ggt>Tgt	p.G71C	ACPL2_ENST00000504264.1_Splice_Site_p.G63C|ACPL2_ENST00000393007.1_Splice_Site_p.G64C|ACPL2_ENST00000502783.1_Splice_Site_p.G42C|ACPL2_ENST00000286353.4_Splice_Site_p.G80C|ACPL2_ENST00000393010.2_Splice_Site_p.G80C|RP11-438D8.2_ENST00000507698.1_RNA			Q8TE99	ACPL2_HUMAN	acid phosphatase-like 2	80						extracellular region	acid phosphatase activity			endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(2)	23						CAGCATGGAAGGTAGGCCTGA	0.567													4	60					0.014758	0.0152304	1	1	0	T	140997342	G	T	140997342	5	4	81	1	0	0	0	0	0	0	1	0	166	1014	35	4	244	4	ACPL2	3	140997342	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	577532	140997342	57025088	3370	6986											
ZBTB38	253461	broad.mit.edu	37	3	141161619	141161619	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:141161619C>T	ENST00000514251.1	+	4	668	c.389C>T	c.(388-390)tCc>tTc	p.S130F	ZBTB38_ENST00000441582.2_Missense_Mutation_p.S130F|ZBTB38_ENST00000321464.5_Missense_Mutation_p.S131F			Q8NAP3	ZBT38_HUMAN	zinc finger and BTB domain containing 38	130					positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	41						TTCTCAAATTCCCCGGGTCCC	0.433													19	28					0	0	1	0	0	T	141161619	C	T	141161619	3	4	81	1	0	0	0	0	1	0	0	0	17598	855	30	2	391	2	ZBTB38	3	141161619	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	164277	141161619	56860811	3371	6987											
ZBTB38	253461	broad.mit.edu	37	3	141161791	141161791	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:141161791A>G	ENST00000514251.1	+	4	840	c.561A>G	c.(559-561)gcA>gcG	p.A187A	ZBTB38_ENST00000441582.2_Silent_p.A187A|ZBTB38_ENST00000321464.5_Silent_p.A188A			Q8NAP3	ZBT38_HUMAN	zinc finger and BTB domain containing 38	187					positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	41						ACTTGAGGGCAAGTTTCAAAA	0.502													9	94					0	0	1	0	0	G	141161791	A	G	141161791	2	3	81	1	0	0	0	0	0	0	0	1	17598	117	5	3		3	ZBTB38	3	141161791	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	172	141161791	56860639	3372	6988											
ZBTB38	253461	broad.mit.edu	37	3	141163946	141163946	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:141163946G>A	ENST00000514251.1	+	4	2995	c.2716G>A	c.(2716-2718)Gca>Aca	p.A906T	ZBTB38_ENST00000441582.2_Missense_Mutation_p.A906T|ZBTB38_ENST00000321464.5_Missense_Mutation_p.A907T			Q8NAP3	ZBT38_HUMAN	zinc finger and BTB domain containing 38	906					positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	41						GTTCGATGACGCAAGTGACCA	0.502													16	28					0	0	1	0	0	A	141163946	G	A	141163946	3	1	81	1	0	0	0	0	1	0	0	0	17598	1087	38	1	2718	1	ZBTB38	3	141163946	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2155	141163946	56858484	3373	6989											
RASA2	5922	broad.mit.edu	37	3	141292883	141292883	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:141292883G>A	ENST00000286364.3	+	14	1492	c.1457G>A	c.(1456-1458)aGg>aAg	p.R486K	RASA2_ENST00000452898.1_Missense_Mutation_p.R486K			Q15283	RASA2_HUMAN	RAS p21 protein activator 2	486	Ras-GAP.				intracellular signal transduction|negative regulation of Ras protein signal transduction	intracellular membrane-bounded organelle|intrinsic to internal side of plasma membrane|perinuclear region of cytoplasm	metal ion binding|Ras GTPase activator activity			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	34						TATTCTCTAAGGCAGATGGCT	0.328													14	23					0	0	1	0	0	A	141292883	G	A	141292883	3	1	81	1	0	0	0	0	1	0	0	0	13113	1000	35	2	1511	2	RASA2	3	141292883	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	128937	141292883	56729547	3374	6990											
RASA2	5922	broad.mit.edu	37	3	141327524	141327524	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:141327524G>A	ENST00000286364.3	+	21	2245	c.2210G>A	c.(2209-2211)tGc>tAc	p.C737Y	RASA2_ENST00000509118.1_3'UTR|RASA2_ENST00000452898.1_Missense_Mutation_p.C738Y			Q15283	RASA2_HUMAN	RAS p21 protein activator 2	737					intracellular signal transduction|negative regulation of Ras protein signal transduction	intracellular membrane-bounded organelle|intrinsic to internal side of plasma membrane|perinuclear region of cytoplasm	metal ion binding|Ras GTPase activator activity			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	34						ACTCTCGGCTGCAAGCCATGT	0.393													18	30					0	0	1	0	0	A	141327524	G	A	141327524	3	1	81	1	0	0	0	0	1	0	0	0	13113	1319	46	2	2292	2	RASA2	3	141327524	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	34641	141327524	56694906	3375	6991											
GK5	256356	broad.mit.edu	37	3	141901842	141901842	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:141901842C>A	ENST00000392993.2	-	10	1017	c.866G>T	c.(865-867)gGt>gTt	p.G289V		NM_001039547.2	NP_001034636.1	Q6ZS86	GLPK5_HUMAN	glycerol kinase 5 (putative)	289					glycerol metabolic process		ATP binding|glycerol kinase activity			kidney(1)|large_intestine(1)|lung(7)|urinary_tract(1)	10						TTTCACATCACCTGTCTGGAA	0.413													5	69					0.184627	0.18622	1	1	0	A	141901842	C	A	141901842	3	1	81	1	0	0	0	0	1	0	0	0	6464	507	18	5	751	5	GK5	3	141901842	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	574318	141901842	56120588	3376	6992											
XRN1	54464	broad.mit.edu	37	3	142030504	142030504	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:142030504G>T	ENST00000264951.4	-	42	5087	c.4970C>A	c.(4969-4971)tCt>tAt	p.S1657Y	XRN1_ENST00000392981.2_Missense_Mutation_p.S1645Y	NM_019001.3	NP_061874.3	Q8IZH2	XRN1_HUMAN	5'-3' exoribonuclease 1	1657					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process	cytosol|Golgi apparatus|intermediate filament cytoskeleton|plasma membrane	5'-3' exonuclease activity|DNA binding|protein binding|RNA binding			NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	61						AGCAATCGGAGAGGACTTCAA	0.448													6	94					0.00198382	0.00209725	1	1	0	T	142030504	G	T	142030504	3	4	81	1	0	0	0	0	1	0	0	0	17519	942	33	4	154	4	XRN1	3	142030504	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	128662	142030504	55991926	3377	6993											
XRN1	54464	broad.mit.edu	37	3	142037526	142037526	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:142037526C>T	ENST00000264951.4	-	39	4643	c.4526G>A	c.(4525-4527)gGc>gAc	p.G1509D	XRN1_ENST00000392981.2_Missense_Mutation_p.G1510D	NM_019001.3	NP_061874.3	Q8IZH2	XRN1_HUMAN	5'-3' exoribonuclease 1	1509					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process	cytosol|Golgi apparatus|intermediate filament cytoskeleton|plasma membrane	5'-3' exonuclease activity|DNA binding|protein binding|RNA binding			NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	61						GAAATTCATGCCTAAGGAGCC	0.393													7	14					0	0	1	0	0	T	142037526	C	T	142037526	3	4	81	1	0	0	0	0	1	0	0	0	17519	739	26	2	610	2	XRN1	3	142037526	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	7022	142037526	55984904	3378	6994											
ATR	545	broad.mit.edu	37	3	142168414	142168414	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:142168414G>A	ENST00000350721.4	-	47	7913	c.7792C>T	c.(7792-7794)Cga>Tga	p.R2598*	ATR_ENST00000383101.3_Nonsense_Mutation_p.R2534*	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related	2598					cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						CCTTGTAGTCGCTGCTCAATG	0.353								Other conserved DNA damage response genes					15	29					0	0	1	0	0	A	142168414	G	A	142168414	4	1	81	1	0	0	0	0	0	1	0	0	1202	1095	38	1	146	1	ATR	3	142168414	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	130888	142168414	55854016	3379	6995											
ATR	545	broad.mit.edu	37	3	142226890	142226890	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:142226890C>A	ENST00000350721.4	-	28	5035	c.4914G>T	c.(4912-4914)caG>caT	p.Q1638H	ATR_ENST00000383101.3_Missense_Mutation_p.Q1574H	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related	1638					cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						CCAGAGTATCCTGGGGTATGA	0.363								Other conserved DNA damage response genes					6	63					0.000157383	0.000171784	1	1	0	A	142226890	C	A	142226890	3	1	81	1	0	0	0	0	1	0	0	0	1202	680	24	4	3100	4	ATR	3	142226890	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	58476	142226890	55795540	3380	6996											
ATR	545	broad.mit.edu	37	3	142281097	142281097	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:142281097G>A	ENST00000350721.4	-	4	1268	c.1147C>T	c.(1147-1149)Ctt>Ttt	p.L383F	ATR_ENST00000383101.3_Missense_Mutation_p.L383F	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related	383					cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						TCAATTCCAAGCACATCCAAA	0.333								Other conserved DNA damage response genes					18	29					0	0	1	0	0	A	142281097	G	A	142281097	3	1	81	1	0	0	0	0	1	0	0	0	1202	971	34	2	6963	2	ATR	3	142281097	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	54207	142281097	55741333	3381	6997											
TRPC1	7220	broad.mit.edu	37	3	142496479	142496479	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:142496479G>A	ENST00000273482.6	+	4	927	c.536G>A	c.(535-537)cGt>cAt	p.R179H	TRPC1_ENST00000476941.1_Missense_Mutation_p.R213H	NM_003304.4	NP_003295.1	P48995	TRPC1_HUMAN	transient receptor potential cation channel, subfamily C, member 1	213					axon guidance|cytosolic calcium ion homeostasis|positive regulation of release of sequestered calcium ion into cytosol|response to calcium ion	cytosol|integral to plasma membrane	protein binding|store-operated calcium channel activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(2)|stomach(3)|urinary_tract(1)	37						CACAGGTTTCGTCTTGATATA	0.279													12	29					0	0	1	0	0	A	142496479	G	A	142496479	3	1	81	1	0	0	0	0	1	0	0	0	16639	1145	40	1	550	1	TRPC1	3	142496479	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	215382	142496479	55525951	3382	6998											
PAQR9	344838	broad.mit.edu	37	3	142681702	142681702	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:142681702C>T	ENST00000340634.3	-	1	476	c.477G>A	c.(475-477)gcG>gcA	p.A159A		NM_198504.2	NP_940906.1	Q6ZVX9	PAQR9_HUMAN	progestin and adipoQ receptor family member IX	159						integral to membrane	receptor activity			endometrium(2)|large_intestine(7)|lung(12)|prostate(1)	22						AGCTGATGGACGCGTAGTCCA	0.612													6	11					0	0	1	0	0	T	142681702	C	T	142681702	2	4	81	1	0	0	0	0	0	0	0	1	11489	523	19	1		1	PAQR9	3	142681702	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	185223	142681702	55340728	3383	6999											
C3orf58	205428	broad.mit.edu	37	3	143708484	143708484	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:143708484A>G	ENST00000315691.3	+	3	1629	c.1094A>G	c.(1093-1095)cAg>cGg	p.Q365R	C3orf58_ENST00000495414.1_Missense_Mutation_p.Q156R|C3orf58_ENST00000441925.2_Missense_Mutation_p.Q127R|C3orf58_ENST00000493396.1_Intron	NM_173552.3	NP_775823.1	Q8NDZ4	CC058_HUMAN	chromosome 3 open reading frame 58	365						COPI vesicle coat|extracellular region				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GCTGTTTGTCAGAACCTCTTA	0.473													9	65					0	0	1	0	0	G	143708484	A	G	143708484	3	3	81	1	0	0	0	0	1	0	0	0	2250	188	7	3	1138	3	C3orf58	3	143708484	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	1026782	143708484	54313946	3384	7000											
PLOD2	5352	broad.mit.edu	37	3	145794589	145794589	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:145794589G>A	ENST00000282903.5	-	15	1834	c.1657C>T	c.(1657-1659)Cag>Tag	p.Q553*	PLOD2_ENST00000461497.1_Nonsense_Mutation_p.Q213*|RP11-274H2.2_ENST00000480247.1_RNA|PLOD2_ENST00000360060.3_Nonsense_Mutation_p.Q532*|PLOD2_ENST00000494950.1_Nonsense_Mutation_p.Q498*	NM_182943.2	NP_891988.1	O00469	PLOD2_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2	532					protein modification process|response to hypoxia	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29					Vitamin C(DB00126)	TCAAAAATCTGCCAGAGGTCA	0.289													7	90					0	0	1	0	0	A	145794589	G	A	145794589	4	1	81	1	0	0	0	0	0	1	0	0	12150	1328	46	2	643	2	PLOD2	3	145794589	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2086105	145794589	52227841	3385	7001											
PLSCR4	57088	broad.mit.edu	37	3	145914444	145914444	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:145914444C>T	ENST00000354952.2	-	7	1001	c.761G>A	c.(760-762)gGc>gAc	p.G254D	PLSCR4_ENST00000433593.2_Missense_Mutation_p.G149D|PLSCR4_ENST00000493382.1_Missense_Mutation_p.G254D|PLSCR4_ENST00000383083.2_Missense_Mutation_p.G164D|PLSCR4_ENST00000446574.2_Missense_Mutation_p.G254D	NM_020353.2	NP_065086.2	Q9NRQ2	PLS4_HUMAN	phospholipid scramblase 4	254					blood coagulation|phospholipid scrambling	integral to membrane	calcium ion binding|phospholipid scramblase activity|SH3 domain binding			kidney(1)|large_intestine(6)|lung(9)|urinary_tract(1)	17						TGAACCACAGCCATAGGTTGA	0.403													40	59					0	0	1	0	0	T	145914444	C	T	145914444	3	4	81	1	0	0	0	0	1	0	0	0	12160	739	26	2	240	2	PLSCR4	3	145914444	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	119855	145914444	52107986	3386	7002											
PLSCR2	57047	broad.mit.edu	37	3	146171805	146171805	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:146171805G>A	ENST00000497985.1	-	7	1125	c.686C>T	c.(685-687)gCg>gTg	p.A229V	PLSCR2_ENST00000336685.2_Missense_Mutation_p.A156V	NM_001199978.1	NP_001186907.1	Q9NRY7	PLS2_HUMAN	phospholipid scramblase 2	156					phospholipid scrambling	integral to membrane|plasma membrane	calcium ion binding|phospholipid scramblase activity	p.A156E(1)|p.A156V(1)|p.A229E(1)		endometrium(2)|large_intestine(5)|lung(7)|stomach(1)	15						ATCAACACCCGCAATACAGCT	0.323													36	42					0	0	1	0	0	A	146171805	G	A	146171805	3	1	81	1	0	0	0	0	1	0	0	0	12158	1087	38	1	219	1	PLSCR2	3	146171805	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	257361	146171805	51850625	3387	7003											
PLSCR1	5359	broad.mit.edu	37	3	146239443	146239443	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:146239443G>T	ENST00000342435.4	-	7	1036	c.626C>A	c.(625-627)aCt>aAt	p.T209N	PLSCR1_ENST00000448787.2_Missense_Mutation_p.T128N|PLSCR1_ENST00000487389.1_Missense_Mutation_p.T202N|PLSCR1_ENST00000448205.1_Intron	NM_021105.2	NP_066928.1	O15162	PLS1_HUMAN	phospholipid scramblase 1	209					phospholipid scrambling|platelet activation|response to virus	integral to membrane|plasma membrane	calcium ion binding|phospholipid scramblase activity|SH3 domain binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	15						TGGGTGCCAAGTCTGAATAAC	0.358													32	32					4.31634e-10	5.26538e-10	1	1	0	T	146239443	G	T	146239443	3	4	81	1	0	0	0	0	1	0	0	0	12157	1029	36	4	342	4	PLSCR1	3	146239443	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	67638	146239443	51782987	3388	7004											
PLSCR1	5359	broad.mit.edu	37	3	146246561	146246561	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:146246561G>A	ENST00000342435.4	-	4	562	c.152C>T	c.(151-153)gCc>gTc	p.A51V	PLSCR1_ENST00000448787.2_Intron|PLSCR1_ENST00000487389.1_Missense_Mutation_p.A44V|PLSCR1_ENST00000448205.1_Intron	NM_021105.2	NP_066928.1	O15162	PLS1_HUMAN	phospholipid scramblase 1	51					phospholipid scrambling|platelet activation|response to virus	integral to membrane|plasma membrane	calcium ion binding|phospholipid scramblase activity|SH3 domain binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	15						TGAATGGCCGGCTGGTGGGGG	0.522													14	23					0	0	1	0	0	A	146246561	G	A	146246561	3	1	81	1	0	0	0	0	1	0	0	0	12157	1203	42	2	828	2	PLSCR1	3	146246561	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	7118	146246561	51775869	3389	7005											
ZIC4	84107	broad.mit.edu	37	3	147113651	147113651	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:147113651G>A	ENST00000383075.3	-	3	1188	c.676C>T	c.(676-678)Cga>Tga	p.R226*	ZIC4_ENST00000425731.3_Nonsense_Mutation_p.R264*|ZIC4_ENST00000491672.1_Intron|ZIC4_ENST00000525172.2_Nonsense_Mutation_p.R276*|ZIC4_ENST00000484399.1_Nonsense_Mutation_p.R226*|ZIC4_ENST00000473123.1_Nonsense_Mutation_p.R226*	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN	Zic family member 4	226						nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						GTGTGAGTTCGTTTGTGTATT	0.557													36	48					0	0	1	0	0	A	147113651	G	A	147113651	4	1	81	1	0	0	0	0	0	1	0	0	17739	1153	40	1	340	1	ZIC4	3	147113651	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	867090	147113651	50908779	3390	7006											
HLTF	6596	broad.mit.edu	37	3	148750076	148750076	+	Silent	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:148750076A>T	ENST00000310053.5	-	25	3154	c.2961T>A	c.(2959-2961)acT>acA	p.T987T	HLTF_ENST00000465259.1_Silent_p.T986T|HLTF_ENST00000494055.1_Silent_p.T987T|HLTF_ENST00000392912.2_Silent_p.T987T	NM_003071.3|NM_139048.2	NP_003062.2|NP_620636.1	Q14527	HLTF_HUMAN	helicase-like transcription factor	987	Helicase C-terminal.|Interaction with SP1 and SP3.				chromatin modification|transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			TTGGTTTTTTAGTTCCAAAGG	0.299													10	24					0	0	1	0	0	T	148750076	A	T	148750076	2	4	81	1	0	0	0	0	0	0	0	1	7256	407	15	5		5	HLTF	3	148750076	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	1636425	148750076	49272354	3391	7007											
HLTF	6596	broad.mit.edu	37	3	148756915	148756915	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:148756915G>A	ENST00000310053.5	-	23	2910	c.2717C>T	c.(2716-2718)aCt>aTt	p.T906I	HLTF_ENST00000465259.1_Missense_Mutation_p.T905I|HLTF_ENST00000494055.1_Missense_Mutation_p.T906I|HLTF_ENST00000392912.2_Missense_Mutation_p.T906I	NM_003071.3|NM_139048.2	NP_003062.2|NP_620636.1	Q14527	HLTF_HUMAN	helicase-like transcription factor	906	Helicase C-terminal.				chromatin modification|transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			AAGCATTATAGTTGGAGATCC	0.393													16	42					0	0	1	0	0	A	148756915	G	A	148756915	3	1	81	1	0	0	0	0	1	0	0	0	7256	1029	36	2	324	2	HLTF	3	148756915	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	6839	148756915	49265515	3392	7008											
HLTF	6596	broad.mit.edu	37	3	148757856	148757856	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:148757856C>A	ENST00000310053.5	-	21	2657	c.2464G>T	c.(2464-2466)Gag>Tag	p.E822*	HLTF_ENST00000465259.1_Nonsense_Mutation_p.E821*|HLTF_ENST00000494055.1_Nonsense_Mutation_p.E822*|HLTF_ENST00000392912.2_Nonsense_Mutation_p.E822*	NM_003071.3|NM_139048.2	NP_003062.2|NP_620636.1	Q14527	HLTF_HUMAN	helicase-like transcription factor	822					chromatin modification|transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			GACTTTTTCTCACTGTCACGT	0.323													10	35					2.17888e-05	2.43576e-05	1	1	0	A	148757856	C	A	148757856	4	1	81	1	0	0	0	0	0	1	0	0	7256	835	29	5	585	5	HLTF	3	148757856	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	941	148757856	49264574	3393	7009											
HLTF	6596	broad.mit.edu	37	3	148759321	148759321	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:148759321C>T	ENST00000310053.5	-	20	2525	c.2332G>A	c.(2332-2334)Gta>Ata	p.V778I	HLTF_ENST00000465259.1_Missense_Mutation_p.V777I|HLTF_ENST00000494055.1_Missense_Mutation_p.V778I|HLTF_ENST00000392912.2_Missense_Mutation_p.V778I	NM_003071.3|NM_139048.2	NP_003062.2|NP_620636.1	Q14527	HLTF_HUMAN	helicase-like transcription factor	778					chromatin modification|transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			TTACAAAATACATGTGCACAA	0.378													43	45					0	0	1	0	0	T	148759321	C	T	148759321	3	4	81	1	0	0	0	0	1	0	0	0	7256	478	17	2	721	2	HLTF	3	148759321	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1465	148759321	49263109	3394	7010											
HLTF	6596	broad.mit.edu	37	3	148781309	148781309	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:148781309C>T	ENST00000310053.5	-	10	1262	c.1069G>A	c.(1069-1071)Gca>Aca	p.A357T	HLTF_ENST00000465259.1_Missense_Mutation_p.A357T|HLTF_ENST00000494055.1_Missense_Mutation_p.A357T|HLTF_ENST00000392912.2_Missense_Mutation_p.A357T	NM_003071.3|NM_139048.2	NP_003062.2|NP_620636.1	Q14527	HLTF_HUMAN	helicase-like transcription factor	357					chromatin modification|transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			CATCTAGATGCGTCTATTTCA	0.343													22	50					0	0	1	0	0	T	148781309	C	T	148781309	3	4	81	1	0	0	0	0	1	0	0	0	7256	768	27	1	2024	1	HLTF	3	148781309	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	21988	148781309	49241121	3395	7011											
HLTF	6596	broad.mit.edu	37	3	148789435	148789435	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:148789435C>A	ENST00000310053.5	-	6	830	c.637G>T	c.(637-639)Gaa>Taa	p.E213*	HLTF_ENST00000465259.1_Nonsense_Mutation_p.E213*|HLTF_ENST00000494055.1_Nonsense_Mutation_p.E213*|HLTF_ENST00000392912.2_Nonsense_Mutation_p.E213*	NM_003071.3|NM_139048.2	NP_003062.2|NP_620636.1	Q14527	HLTF_HUMAN	helicase-like transcription factor	213				KTE -> PEF (in Ref. 6; AAB27691).	chromatin modification|transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding	p.E213K(1)		breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			TTGTCAAATTCTGTTTTAAGC	0.259													8	6					2.17888e-05	2.43576e-05	1	1	0	A	148789435	C	A	148789435	4	1	81	1	0	0	0	0	0	1	0	0	7256	922	32	4	2472	4	HLTF	3	148789435	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	8126	148789435	49232995	3396	7012											
HPS3	84343	broad.mit.edu	37	3	148880648	148880648	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:148880648C>T	ENST00000296051.2	+	13	2604	c.2464C>T	c.(2464-2466)Cga>Tga	p.R822*	HPS3_ENST00000460120.1_Nonsense_Mutation_p.R657*	NM_032383.3	NP_115759.2	Q969F9	HPS3_HUMAN	Hermansky-Pudlak syndrome 3	822						cytoplasm		p.R822*(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	34			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			CACACCATTGCGAACATCGGA	0.373									Hermansky-Pudlak syndrome				26	49					0	0	1	0	0	T	148880648	C	T	148880648	4	4	81	1	0	0	0	0	0	1	0	0	7381	760	27	1	2514	1	HPS3	3	148880648	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	91213	148880648	49141782	3397	7013											
CP	1356	broad.mit.edu	37	3	148925399	148925399	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:148925399T>C	ENST00000264613.6	-	5	1049	c.787A>G	c.(787-789)Aat>Gat	p.N263D		NM_000096.3	NP_000087	P00450	CERU_HUMAN	ceruloplasmin (ferroxidase)	263	F5/8 type A 1.|Plastocyanin-like 2.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	extracellular space	chaperone binding|ferroxidase activity			breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		Drotrecogin alfa(DB00055)	GTGTATCCATTCACAGCTGTA	0.398													5	61					0	0	1	0	0	C	148925399	T	C	148925399	3	2	81	1	0	0	0	0	1	0	0	0	3810	1783	62	3	2470	3	CP	3	148925399	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	44751	148925399	49097031	3398	7014											
CP	1356	broad.mit.edu	37	3	148928055	148928055	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:148928055T>C	ENST00000264613.6	-	3	768	c.506A>G	c.(505-507)gAa>gGa	p.E169G		NM_000096.3	NP_000087	P00450	CERU_HUMAN	ceruloplasmin (ferroxidase)	169	F5/8 type A 1.|Plastocyanin-like 1.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	extracellular space	chaperone binding|ferroxidase activity			breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		Drotrecogin alfa(DB00055)	GCCATCTCCTTCCCCAGGACT	0.408													12	98					0	0	1	0	0	C	148928055	T	C	148928055	3	2	81	1	0	0	0	0	1	0	0	0	3810	1783	62	3	2759	3	CP	3	148928055	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	2656	148928055	49094375	3399	7015											
WWTR1	25937	broad.mit.edu	37	3	149290789	149290790	+	Splice_Site	INS	-	-	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:149290789_149290790insA	ENST00000465804.1	-	4	688		c.e4-2		WWTR1_ENST00000360632.3_Splice_Site|WWTR1_ENST00000467467.1_Splice_Site	NM_001168278.1	NP_001161750.1	Q9GZV5	WWTR1_HUMAN	WW domain containing transcription regulator 1						hippo signaling cascade|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of protein kinase activity|negative regulation of protein phosphorylation|positive regulation of cell proliferation|positive regulation of epithelial to mesenchymal transition|regulation of SMAD protein import into nucleus|stem cell division|transcription, DNA-dependent	cytoplasm	transcription coactivator activity			breast(5)|cervix(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	23			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			TCTATGTGACTAAAAGAAGGAA	0.386			T	CAMTA1	epitheliod hemangioendothelioma								22	61	---	---	---	---						A	149290790	-	A	149290789	8	5	81	1	0	1	1	0	0	0	1	0	17477	1536	53	0	792	0	WWTR1	3	149290789	Splice_Site	INS	-	TCGA-DU-6392-01A-11D-1705-08	362734	149290789	48731641	3400	7016											
MED12L	116931	broad.mit.edu	37	3	150877651	150877651	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:150877651G>A	ENST00000474524.1	+	7	908	c.870G>A	c.(868-870)ctG>ctA	p.L290L	MED12L_ENST00000309237.4_Silent_p.L290L|MED12L_ENST00000273432.4_Intron|MED12L_ENST00000422248.2_Silent_p.L290L	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	290					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CGGCCTACCTGTCTCGTCGTC	0.483													90	114					0	0	1	0	0	A	150877651	G	A	150877651	2	1	81	1	0	0	0	0	0	0	0	1	9479	1364	48	2		2	MED12L	3	150877651	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1586862	150877651	47144779	3401	7017											
MED12L	116931	broad.mit.edu	37	3	150883718	150883718	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:150883718G>T	ENST00000474524.1	+	10	1481	c.1443G>T	c.(1441-1443)gaG>gaT	p.E481D	MED12L_ENST00000309237.4_Missense_Mutation_p.E481D|MED12L_ENST00000273432.4_Missense_Mutation_p.E341D|MED12L_ENST00000422248.2_Missense_Mutation_p.E481D	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	481					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			ATTCCATGGAGACACTTTATC	0.353													10	108					9.70103e-10	1.17698e-09	1	1	0	T	150883718	G	T	150883718	3	4	81	1	0	0	0	0	1	0	0	0	9479	933	33	4	1481	4	MED12L	3	150883718	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	6067	150883718	47138712	3402	7018											
GPR171	29909	broad.mit.edu	37	3	150916564	150916564	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:150916564G>A	ENST00000309180.5	-	3	840	c.610C>T	c.(610-612)Cga>Tga	p.R204*	MED12L_ENST00000273432.4_Intron|MED12L_ENST00000474524.1_Intron	NM_013308.3	NP_037440.3	O14626	GP171_HUMAN	G protein-coupled receptor 171	204						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(1)|kidney(4)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1)	15			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TAGAGCTGTCGAATTACAAGG	0.333													17	34					0	0	1	0	0	A	150916564	G	A	150916564	4	1	81	1	0	0	0	0	0	1	0	0	6708	1066	37	1	353	1	GPR171	3	150916564	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	32846	150916564	47105866	3403	7019											
P2RY13	53829	broad.mit.edu	37	3	151046359	151046360	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:151046359_151046360insT	ENST00000325602.5	-	2	503_504	c.484_485insA	c.(484-486)acgfs	p.T162fs	MED12L_ENST00000491549.1_Intron|MED12L_ENST00000273432.4_Intron|MED12L_ENST00000474524.1_Intron	NM_176894.2	NP_795713.2	Q9BPV8	P2Y13_HUMAN	purinergic receptor P2Y, G-protein coupled, 13	162						integral to membrane|plasma membrane				biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	14			LUSC - Lung squamous cell carcinoma(72;0.0189)|Lung(72;0.0278)			GATTGAGACCGTTTTTGCAAAA	0.406													20	35	---	---	---	---						T	151046360	-	T	151046359	7	5	81	1	0	1	1	0	0	0	0	0	11397	1145	40	0	583	0	P2RY13	3	151046359	Frame_Shift_Ins	INS	-	TCGA-DU-6392-01A-11D-1705-08	129795	151046359	46976071	3404	7020											
MED12L	116931	broad.mit.edu	37	3	151101986	151101986	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:151101986A>G	ENST00000474524.1	+	33	4839	c.4801A>G	c.(4801-4803)Aat>Gat	p.N1601D	P2RY12_ENST00000302632.3_Intron|MED12L_ENST00000273432.4_Missense_Mutation_p.N1461D	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	1601					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TGCATACATGAATTTAGTAAA	0.363													8	69					0	0	1	0	0	G	151101986	A	G	151101986	3	3	81	1	0	0	0	0	1	0	0	0	9479	246	9	3	4931	3	MED12L	3	151101986	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	55627	151101986	46920444	3405	7021											
MED12L	116931	broad.mit.edu	37	3	151129147	151129147	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:151129147C>A	ENST00000474524.1	+	39	5925	c.5887C>A	c.(5887-5889)Ctg>Atg	p.L1963M	MED12L_ENST00000273432.4_Intron	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	1963	Gln-rich.				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CAGTGTGGTCCTGTCTCCCAG	0.557													5	58					8.12818e-05	8.94031e-05	1	1	0	A	151129147	C	A	151129147	3	1	81	1	0	0	0	0	1	0	0	0	9479	680	24	4	6041	4	MED12L	3	151129147	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	27161	151129147	46893283	3406	7022											
IGSF10	285313	broad.mit.edu	37	3	151155345	151155345	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:151155345C>A	ENST00000282466.3	-	6	7003	c.7004G>T	c.(7003-7005)aGa>aTa	p.R2335I	IGSF10_ENST00000495443.1_5'UTR	NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	2335					cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TGTCGGTCTTCTCAGCATTTC	0.438													7	142					1.12685e-05	1.27052e-05	1	1	0	A	151155345	C	A	151155345	3	1	81	1	0	0	0	0	1	0	0	0	7641	913	32	4	871	4	IGSF10	3	151155345	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	26198	151155345	46867085	3407	7023											
IGSF10	285313	broad.mit.edu	37	3	151163978	151163978	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:151163978G>T	ENST00000282466.3	-	4	3790	c.3791C>A	c.(3790-3792)tCt>tAt	p.S1264Y		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	1264					cell differentiation|multicellular organismal development|ossification	extracellular region		p.S1264C(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CAAGGTATTAGATGGAATTTG	0.458													46	83					1.6237e-14	2.06075e-14	1	1	0	T	151163978	G	T	151163978	3	4	81	1	0	0	0	0	1	0	0	0	7641	942	33	4	4140	4	IGSF10	3	151163978	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	8633	151163978	46858452	3408	7024											
IGSF10	285313	broad.mit.edu	37	3	151165181	151165181	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:151165181G>A	ENST00000282466.3	-	4	2587	c.2588C>T	c.(2587-2589)aCt>aTt	p.T863I		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	863					cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TTTAATAGCAGTAGACAGTTT	0.383													69	228					0	0	1	0	0	A	151165181	G	A	151165181	3	1	81	1	0	0	0	0	1	0	0	0	7641	1029	36	2	5343	2	IGSF10	3	151165181	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1203	151165181	46857249	3409	7025											
IGSF10	285313	broad.mit.edu	37	3	151165238	151165238	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:151165238G>T	ENST00000282466.3	-	4	2530	c.2531C>A	c.(2530-2532)cCt>cAt	p.P844H		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	844					cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			ATTCACAACAGGAGAGAATTC	0.388													30	210					5.60225e-13	7.04216e-13	1	1	0	T	151165238	G	T	151165238	3	4	81	1	0	0	0	0	1	0	0	0	7641	1000	35	4	5400	4	IGSF10	3	151165238	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	57	151165238	46857192	3410	7026											
IGSF10	285313	broad.mit.edu	37	3	151165712	151165712	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:151165712G>T	ENST00000282466.3	-	4	2056	c.2057C>A	c.(2056-2058)cCt>cAt	p.P686H		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	686					cell differentiation|multicellular organismal development|ossification	extracellular region		p.P686L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			ATGAGCAATAGGATTGGACTC	0.463													22	32					1.96292e-10	2.40212e-10	1	1	0	T	151165712	G	T	151165712	3	4	81	1	0	0	0	0	1	0	0	0	7641	1000	35	4	5874	4	IGSF10	3	151165712	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	474	151165712	46856718	3411	7027											
AADACL2	344752	broad.mit.edu	37	3	151474940	151474940	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:151474940C>A	ENST00000356517.3	+	5	873	c.764C>A	c.(763-765)aCc>aAc	p.T255N	RP11-454C18.2_ENST00000483843.2_RNA|RP11-454C18.2_ENST00000475855.1_RNA	NM_207365.3	NP_997248.2	Q6P093	ADCL2_HUMAN	arylacetamide deacetylase-like 2	255						extracellular region|integral to membrane	carboxylesterase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(13)|skin(2)	24			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			TTATATTTCACCAAGGATGAA	0.403													48	103					5.57489e-27	7.39727e-27	1	1	0	A	151474940	C	A	151474940	3	1	81	1	0	0	0	0	1	0	0	0	11	507	18	5	782	5	AADACL2	3	151474940	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	309228	151474940	46547490	3412	7028											
AADACL2	344752	broad.mit.edu	37	3	151475308	151475308	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:151475308A>T	ENST00000356517.3	+	5	1241	c.1132A>T	c.(1132-1134)Act>Tct	p.T378S	RP11-454C18.2_ENST00000483843.2_RNA|RP11-454C18.2_ENST00000475855.1_RNA	NM_207365.3	NP_997248.2	Q6P093	ADCL2_HUMAN	arylacetamide deacetylase-like 2	378						extracellular region|integral to membrane	carboxylesterase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(13)|skin(2)	24			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			ATCATTCATGACTTCACCATT	0.338													43	68					0	0	1	0	0	T	151475308	A	T	151475308	3	4	81	1	0	0	0	0	1	0	0	0	11	275	10	5	1150	5	AADACL2	3	151475308	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	368	151475308	46547122	3413	7029											
SUCNR1	56670	broad.mit.edu	37	3	151598783	151598783	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:151598783C>T	ENST00000362032.5	+	3	557	c.452C>T	c.(451-453)aCc>aTc	p.T151I	RP11-454C18.2_ENST00000483843.2_RNA|RP11-454C18.2_ENST00000475855.1_RNA	NM_033050.4	NP_149039.2	Q9BXA5	SUCR1_HUMAN	succinate receptor 1							integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	14			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)		Succinic acid(DB00139)	GTTTTAGTAACCTTAGAGTTA	0.378													62	94					0	0	1	0	0	T	151598783	C	T	151598783	3	4	81	1	0	0	0	0	1	0	0	0	15422	507	18	2	458	2	SUCNR1	3	151598783	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	123475	151598783	46423647	3414	7030											
P2RY1	5028	broad.mit.edu	37	3	152553954	152553954	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:152553954G>T	ENST00000305097.3	+	1	1219	c.383G>T	c.(382-384)aGg>aTg	p.R128M		NM_002563.3	NP_002554.1	P47900	P2RY1_HUMAN	purinergic receptor P2Y, G-protein coupled, 1	128					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|platelet activation	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			breast(1)|endometrium(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)	23			LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11)			AAACTGCAGAGGTTCATCTTT	0.517													37	45					7.63091e-17	9.81489e-17	1	1	0	T	152553954	G	T	152553954	3	4	81	1	0	0	0	0	1	0	0	0	11393	1000	35	4	385	4	P2RY1	3	152553954	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	955171	152553954	45468476	3415	7031											
RAP2B	5912	broad.mit.edu	37	3	152880811	152880811	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:152880811C>T	ENST00000323534.2	+	1	783	c.329C>T	c.(328-330)cCc>cTc	p.P110L		NM_002886.2	NP_002877.2	P61225	RAP2B_HUMAN	RAP2B, member of RAS oncogene family	110					Rap protein signal transduction|regulation of protein tyrosine kinase activity	recycling endosome membrane	GTP binding|GTPase activity			NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	7			LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11)			GAGCGCGTGCCCATGATCCTG	0.632													18	32					0	0	1	0	0	T	152880811	C	T	152880811	3	4	81	1	0	0	0	0	1	0	0	0	13093	623	22	2	331	2	RAP2B	3	152880811	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	326857	152880811	45141619	3416	7032											
DHX36	170506	broad.mit.edu	37	3	154024015	154024015	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:154024015G>A	ENST00000496811.1	-	6	963	c.883C>T	c.(883-885)Cgt>Tgt	p.R295C	DHX36_ENST00000329463.5_Missense_Mutation_p.R295C|DHX36_ENST00000544526.1_Missense_Mutation_p.R295C|DHX36_ENST00000308361.6_Missense_Mutation_p.R295C	NM_020865.2	NP_065916.2	Q9H2U1	DHX36_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 36	295	Helicase ATP-binding.					cytoplasm|nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	35			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			CTCTGGAGACGAATTTGATAT	0.348													25	34					0	0	1	0	0	A	154024015	G	A	154024015	3	1	81	1	0	0	0	0	1	0	0	0	4537	1058	37	1	2223	1	DHX36	3	154024015	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1143204	154024015	43998415	3417	7033											
DHX36	170506	broad.mit.edu	37	3	154041998	154041999	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:154041998_154041999insT	ENST00000496811.1	-	1	287_288	c.207_208insA	c.(205-210)aaacagfs	p.Q70fs	DHX36_ENST00000329463.5_Frame_Shift_Ins_p.Q70fs|DHX36_ENST00000544526.1_Frame_Shift_Ins_p.Q70fs|DHX36_ENST00000308361.6_Frame_Shift_Ins_p.Q70fs	NM_020865.2	NP_065916.2	Q9H2U1	DHX36_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 36	70						cytoplasm|nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	35			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			TTCTGCCCCTGTTTTTTCGCGT	0.634													10	189	---	---	---	---						T	154041999	-	T	154041998	7	5	81	1	0	1	1	0	0	0	0	0	4537	1386	48	0	2918	0	DHX36	3	154041998	Frame_Shift_Ins	INS	-	TCGA-DU-6392-01A-11D-1705-08	17983	154041998	43980432	3418	7034											
MME	4311	broad.mit.edu	37	3	154802023	154802023	+	Nonsense_Mutation	SNP	C	C	T	rs150836510		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:154802023C>T	ENST00000460393.1	+	2	187	c.67C>T	c.(67-69)Cga>Tga	p.R23*	MME_ENST00000462745.1_Nonsense_Mutation_p.R23*|MME_ENST00000492661.1_Nonsense_Mutation_p.R23*|MME_ENST00000493237.1_Nonsense_Mutation_p.R23*|MME_ENST00000382989.3_Nonsense_Mutation_p.R23*|MME_ENST00000360490.2_Nonsense_Mutation_p.R23*	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	membrane metallo-endopeptidase	23					cell-cell signaling|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding	p.R23*(1)		central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)	GAAGAAACAGCGATGGACTCC	0.433													39	78					0	0	1	0	0	T	154802023	C	T	154802023	4	4	81	1	0	0	0	0	0	1	0	0	9693	760	27	1	69	1	MME	3	154802023	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	760025	154802023	43220407	3419	7035											
MME	4311	broad.mit.edu	37	3	154859820	154859820	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:154859820C>T	ENST00000460393.1	+	11	1118	c.998C>T	c.(997-999)aCt>aTt	p.T333I	MME_ENST00000462745.1_Missense_Mutation_p.T333I|MME_ENST00000492661.1_Missense_Mutation_p.T333I|MME_ENST00000493237.1_Missense_Mutation_p.T333I|MME_ENST00000360490.2_Missense_Mutation_p.T333I	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	membrane metallo-endopeptidase	333					cell-cell signaling|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)	ATCATGTCAACTGTGAATATT	0.363													40	69					0	0	1	0	0	T	154859820	C	T	154859820	3	4	81	1	0	0	0	0	1	0	0	0	9693	565	20	2	1036	2	MME	3	154859820	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	57797	154859820	43162610	3420	7036											
PLCH1	23007	broad.mit.edu	37	3	155199620	155199620	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:155199620C>T	ENST00000460012.1	-	23	4462	c.4105G>A	c.(4105-4107)Ggc>Agc	p.G1369S	PLCH1_ENST00000447496.2_3'UTR|PLCH1_ENST00000334686.6_Missense_Mutation_p.G1369S|PLCH1_ENST00000494598.1_Intron|PLCH1_ENST00000340059.7_Missense_Mutation_p.G1407S|PLCH1_ENST00000414191.1_Missense_Mutation_p.G1369S			Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	1407					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			TTACAGTAGCCGTTTCTCAAA	0.413													9	98					0	0	1	0	0	T	155199620	C	T	155199620	3	4	81	1	0	0	0	0	1	0	0	0	12085	652	23	1	866	1	PLCH1	3	155199620	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	339800	155199620	42822810	3421	7037											
PLCH1	23007	broad.mit.edu	37	3	155210521	155210521	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:155210521G>A	ENST00000460012.1	-	18	2571	c.2214C>T	c.(2212-2214)ggC>ggT	p.G738G	PLCH1_ENST00000447496.2_Silent_p.G756G|PLCH1_ENST00000334686.6_Silent_p.G738G|PLCH1_ENST00000494598.1_Silent_p.G756G|PLCH1_ENST00000340059.7_Silent_p.G756G|PLCH1_ENST00000414191.1_Silent_p.G738G			Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	756	C2.				lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			AACTTACCTCGCCTCGATCTC	0.438													30	28					0	0	1	0	0	A	155210521	G	A	155210521	2	1	81	1	0	0	0	0	0	0	0	1	12085	1074	38	1		1	PLCH1	3	155210521	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	10901	155210521	42811909	3422	7038											
PLCH1	23007	broad.mit.edu	37	3	155215116	155215116	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:155215116C>A	ENST00000460012.1	-	15	2154	c.1797G>T	c.(1795-1797)gtG>gtT	p.V599V	PLCH1_ENST00000447496.2_Silent_p.V617V|PLCH1_ENST00000334686.6_Silent_p.V599V|PLCH1_ENST00000494598.1_Silent_p.V617V|PLCH1_ENST00000340059.7_Silent_p.V617V|PLCH1_ENST00000414191.1_Silent_p.V599V			Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	617					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			TACCGTCATCCACAATGTCCT	0.413													16	55					2.35188e-11	2.91332e-11	1	1	0	A	155215116	C	A	155215116	2	1	81	1	0	0	0	0	0	0	0	1	12085	581	21	5		5	PLCH1	3	155215116	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	4595	155215116	42807314	3423	7039											
PLCH1	23007	broad.mit.edu	37	3	155311772	155311772	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:155311772C>G	ENST00000460012.1	-	4	695	c.338G>C	c.(337-339)aGt>aCt	p.S113T	PLCH1_ENST00000447496.2_Missense_Mutation_p.S131T|PLCH1_ENST00000334686.6_Missense_Mutation_p.S113T|PLCH1_ENST00000494598.1_Missense_Mutation_p.S131T|PLCH1_ENST00000340059.7_Missense_Mutation_p.S131T|PLCH1_ENST00000414191.1_Missense_Mutation_p.S113T			Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	131	PH.				lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			GTCTTCATCACTGATGCCAGC	0.527													11	30					0	0	1	0	0	G	155311772	C	G	155311772	3	3	81	1	0	0	0	0	1	0	0	0	12085	565	20	4	4788	4	PLCH1	3	155311772	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	96656	155311772	42710658	3424	7040											
SLC33A1	9197	broad.mit.edu	37	3	155560396	155560396	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:155560396delA	ENST00000392845.3	-	2	1168	c.788delT	c.(787-789)ttcfs	p.F263fs	SLC33A1_ENST00000359479.3_Frame_Shift_Del_p.F263fs			O00400	ACATN_HUMAN	solute carrier family 33 (acetyl-CoA transporter), member 1						cell death|transmembrane transport	endoplasmic reticulum membrane|Golgi membrane|integral to plasma membrane|membrane fraction	acetyl-CoA transporter activity			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	22			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			AGTTCCCCAGAAAAAAAGGAA	0.244													10	23	---	---	---	---						-	155560396	A	-	155560396	7	5	81	1	0	1	0	1	0	0	0	0	14621	246	9	0	881	0	SLC33A1	3	155560396	Frame_Shift_Del	DEL	A	TCGA-DU-6392-01A-11D-1705-08	248624	155560396	42462034	3425	7041											
SSR3	6747	broad.mit.edu	37	3	156266708	156266708	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:156266708C>T	ENST00000265044.2	-	3	439	c.345G>A	c.(343-345)aaG>aaA	p.K115K	SSR3_ENST00000467789.1_Silent_p.K115K|SSR3_ENST00000463503.1_Silent_p.K63K|SSR3_ENST00000476217.1_Silent_p.K115K|SSR3_ENST00000496050.1_Silent_p.K63K|SSR3_ENST00000478842.1_5'UTR	NM_007107.3	NP_009038.1	Q9UNL2	SSRG_HUMAN	signal sequence receptor, gamma (translocon-associated protein gamma)	115					cotranslational protein targeting to membrane	integral to endoplasmic reticulum membrane|microsome|Sec61 translocon complex	protein binding|signal sequence binding			endometrium(1)|prostate(2)	3			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			CATCTTTCTCCTTCCGAGACA	0.363													4	40					0	0	1	0	0	T	156266708	C	T	156266708	2	4	81	1	0	0	0	0	0	0	0	1	15248	680	24	2		2	SSR3	3	156266708	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	706312	156266708	41755722	3426	7042											
TIPARP	25976	broad.mit.edu	37	3	156411977	156411977	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:156411977G>T	ENST00000461166.1	+	3	1674	c.1086G>T	c.(1084-1086)gaG>gaT	p.E362D	TIPARP_ENST00000542783.1_Splice_Site_p.E362D|TIPARP_ENST00000295924.7_Splice_Site_p.E362D|TIPARP_ENST00000486483.1_Splice_Site_p.E362D	NM_001184717.1	NP_001171646.1	Q7Z3E1	PARPT_HUMAN	TCDD-inducible poly(ADP-ribose) polymerase	362	WWE.						NAD+ ADP-ribosyltransferase activity|nucleic acid binding|protein binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			AGTATCCCGAGGTATTTACAG	0.373													6	99					3.59834e-05	3.99423e-05	1	1	0	T	156411977	G	T	156411977	5	4	81	1	0	0	0	0	0	0	1	0	15984	1014	35	4	1092	4	TIPARP	3	156411977	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	145269	156411977	41610453	3427	7043											
TIPARP	25976	broad.mit.edu	37	3	156422529	156422529	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:156422529G>C	ENST00000461166.1	+	6	2171	c.1583G>C	c.(1582-1584)aGa>aCa	p.R528T	TIPARP_ENST00000542783.1_Missense_Mutation_p.R528T|TIPARP_ENST00000295924.7_Missense_Mutation_p.R528T|TIPARP_ENST00000486483.1_Missense_Mutation_p.R528T	NM_001184717.1	NP_001171646.1	Q7Z3E1	PARPT_HUMAN	TCDD-inducible poly(ADP-ribose) polymerase	528	PARP catalytic.						NAD+ ADP-ribosyltransferase activity|nucleic acid binding|protein binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			ATAAATGAGAGACATTTATTT	0.388													12	123					0	0	1	0	0	C	156422529	G	C	156422529	3	2	81	1	0	0	0	0	1	0	0	0	15984	942	33	4	1601	4	TIPARP	3	156422529	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	10552	156422529	41599901	3428	7044											
TIPARP	25976	broad.mit.edu	37	3	156422836	156422836	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:156422836G>T	ENST00000461166.1	+	6	2478	c.1890G>T	c.(1888-1890)caG>caT	p.Q630H	TIPARP_ENST00000542783.1_Missense_Mutation_p.Q630H|TIPARP_ENST00000295924.7_Missense_Mutation_p.Q630H|TIPARP_ENST00000486483.1_Missense_Mutation_p.Q630H	NM_001184717.1	NP_001171646.1	Q7Z3E1	PARPT_HUMAN	TCDD-inducible poly(ADP-ribose) polymerase	630	PARP catalytic.						NAD+ ADP-ribosyltransferase activity|nucleic acid binding|protein binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			ttgagcctcagatttttgtca	0.413													8	69					0.0381472	0.0389402	1	1	0	T	156422836	G	T	156422836	3	4	81	1	0	0	0	0	1	0	0	0	15984	933	33	4	1908	4	TIPARP	3	156422836	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	307	156422836	41599594	3429	7045											
CCNL1	57018	broad.mit.edu	37	3	156867624	156867624	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:156867624C>T	ENST00000295926.3	-	8	1140		c.e8+1		CCNL1_ENST00000461804.1_Splice_Site	NM_020307.2	NP_064703.1	Q9UK58	CCNL1_HUMAN	cyclin L1						regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nuclear speck	protein kinase binding			NS(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|stomach(1)	18			LUSC - Lung squamous cell carcinoma(72;0.0295)|Lung(72;0.0308)			ATACATCTTACATGGCTTGGA	0.398													9	60					0	0	1	0	0	T	156867624	C	T	156867624	5	4	81	1	0	0	0	0	0	0	1	0	2953	492	17	2	574	2	CCNL1	3	156867624	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	444788	156867624	41154806	3430	7046											
SHOX2	6474	broad.mit.edu	37	3	157815991	157815991	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:157815991T>C	ENST00000490689.2	-	5	1931	c.398A>G	c.(397-399)tAc>tGc	p.Y133C	SHOX2_ENST00000441443.2_Missense_Mutation_p.Y133C|SHOX2_ENST00000425436.3_Missense_Mutation_p.Y274C|SHOX2_ENST00000483851.2_Missense_Mutation_p.Y262C|SHOX2_ENST00000389589.4_Missense_Mutation_p.Y298C			O60902	SHOX2_HUMAN	short stature homeobox 2	274					nervous system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(10)|skin(3)|upper_aerodigestive_tract(1)	20			Lung(72;0.00318)|LUSC - Lung squamous cell carcinoma(72;0.0043)			GAACATCATGTAGGGCGCGTG	0.706													5	99					0	0	1	0	0	C	157815991	T	C	157815991	3	2	81	1	0	0	0	0	1	0	0	0	14344	1638	57	3	178	3	SHOX2	3	157815991	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	948367	157815991	40206439	3431	7047											
RSRC1	51319	broad.mit.edu	37	3	157841751	157841751	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:157841751G>A	ENST00000464171.1	+	3	416	c.291G>A	c.(289-291)caG>caA	p.Q97Q	RSRC1_ENST00000295930.3_Silent_p.Q97Q|RSRC1_ENST00000475278.2_Silent_p.Q97Q|RSRC1_ENST00000480820.1_Silent_p.Q97Q|RSRC1_ENST00000312179.6_Silent_p.Q97Q	NM_001271834.1	NP_001258763.1	Q96IZ7	RSRC1_HUMAN	arginine/serine-rich coiled-coil 1	97	Arg/Ser-rich.				nucleocytoplasmic transport	cytoplasm|nuclear speck	protein binding			cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|upper_aerodigestive_tract(1)	18			Lung(72;0.00416)|LUSC - Lung squamous cell carcinoma(72;0.00575)			ATAGAGTTCAGAGGTCTAGGT	0.413													17	42					0	0	1	0	0	A	157841751	G	A	157841751	2	1	81	1	0	0	0	0	0	0	0	1	13766	933	33	2		2	RSRC1	3	157841751	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	25760	157841751	40180679	3432	7048											
RSRC1	51319	broad.mit.edu	37	3	158261971	158261971	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:158261971G>A	ENST00000464171.1	+	9	863		c.e9-1		RSRC1_ENST00000295930.3_Splice_Site|RSRC1_ENST00000475278.2_Splice_Site|RSRC1_ENST00000480820.1_Splice_Site|RSRC1_ENST00000312179.6_Splice_Site	NM_001271834.1	NP_001258763.1	Q96IZ7	RSRC1_HUMAN	arginine/serine-rich coiled-coil 1						nucleocytoplasmic transport	cytoplasm|nuclear speck	protein binding			cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|upper_aerodigestive_tract(1)	18			Lung(72;0.00416)|LUSC - Lung squamous cell carcinoma(72;0.00575)			TCTTATTTCAGTTATTTATCG	0.343													24	39					0	0	1	0	0	A	158261971	G	A	158261971	5	1	81	1	0	0	0	0	0	0	1	0	13766	1043	36	2	946	2	RSRC1	3	158261971	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	420220	158261971	39760459	3433	7049											
GFM1	85476	broad.mit.edu	37	3	158366903	158366903	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:158366903G>T	ENST00000486715.1	+	5	1003	c.646G>T	c.(646-648)Gat>Tat	p.D216Y	GFM1_ENST00000264263.5_Missense_Mutation_p.D216Y|GFM1_ENST00000478576.1_Missense_Mutation_p.D216Y	NM_024996.5	NP_079272.4	Q96RP9	EFGM_HUMAN	G elongation factor, mitochondrial 1	216					mitochondrial translational elongation	mitochondrion	GTP binding|GTPase activity|translation elongation factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|urinary_tract(2)	22			Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043)			AGGTATTGTAGATCTTATTGA	0.294													41	68					9.84934e-19	1.27981e-18	1	1	0	T	158366903	G	T	158366903	3	4	81	1	0	0	0	0	1	0	0	0	6383	942	33	4	664	4	GFM1	3	158366903	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	104932	158366903	39655527	3434	7050											
LXN	56925	broad.mit.edu	37	3	158384464	158384464	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:158384464G>A	ENST00000264265.3	-	6	854	c.640C>T	c.(640-642)Cgt>Tgt	p.R214C	GFM1_ENST00000264263.5_Intron|GFM1_ENST00000478576.1_Intron|GFM1_ENST00000486715.1_Intron	NM_020169.3	NP_064554.3	Q9BS40	LXN_HUMAN	latexin	214						cytoplasm	metalloendopeptidase inhibitor activity|protein binding			breast(2)|endometrium(1)|kidney(2)	5			Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043)			TTTGGCAGACGGCTATTATGT	0.388													22	35					0	0	1	0	0	A	158384464	G	A	158384464	3	1	81	1	0	0	0	0	1	0	0	0	9135	1116	39	1	32	1	LXN	3	158384464	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	17561	158384464	39637966	3435	7051											
RARRES1	5918	broad.mit.edu	37	3	158415601	158415601	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:158415601G>A	ENST00000237696.5	-	6	1031	c.751C>T	c.(751-753)Cgc>Tgc	p.R251C		NM_206963.1	NP_996846.1	P49788	TIG1_HUMAN	retinoic acid receptor responder (tazarotene induced) 1	251					negative regulation of cell proliferation	integral to membrane				NS(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)	9			Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043)		Tretinoin(DB00755)	AAGTGAATGCGACAGGGAATT	0.378													28	54					0	0	1	0	0	A	158415601	G	A	158415601	3	1	81	1	0	0	0	0	1	0	0	0	13107	1058	37	1	137	1	RARRES1	3	158415601	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	31137	158415601	39606829	3436	7052											
SMC4	10051	broad.mit.edu	37	3	160148851	160148851	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:160148851G>A	ENST00000357388.3	+	20	3423	c.2972G>A	c.(2971-2973)cGc>cAc	p.R991H	RP11-432B6.3_ENST00000483754.1_Intron|SMC4_ENST00000469762.1_Missense_Mutation_p.R966H|SMC4_ENST00000462787.1_Intron|SMC4_ENST00000360111.2_Intron|SMC4_ENST00000344722.5_Missense_Mutation_p.R991H	NM_001002800.1	NP_001002800.1	Q9NTJ3	SMC4_HUMAN	structural maintenance of chromosomes 4	991					cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	ATP binding|protein heterodimerization activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			AAAGAACATCGCAATCTGCTT	0.338													24	33					0	0	1	0	0	A	160148851	G	A	160148851	3	1	81	1	0	0	0	0	1	0	0	0	14839	1087	38	1	3046	1	SMC4	3	160148851	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1733250	160148851	37873579	3437	7053											
SMC4	10051	broad.mit.edu	37	3	160149499	160149499	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:160149499G>T	ENST00000357388.3	+	21	3634	c.3183G>T	c.(3181-3183)gaG>gaT	p.E1061D	RP11-432B6.3_ENST00000483754.1_Intron|SMC4_ENST00000469762.1_Missense_Mutation_p.E1036D|SMC4_ENST00000462787.1_Missense_Mutation_p.E1003D|SMC4_ENST00000360111.2_Missense_Mutation_p.E1003D|SMC4_ENST00000344722.5_Missense_Mutation_p.E1061D	NM_001002800.1	NP_001002800.1	Q9NTJ3	SMC4_HUMAN	structural maintenance of chromosomes 4	1061					cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	ATP binding|protein heterodimerization activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			TAAGCCCAGAGGATCTTGAAG	0.388													5	65					0.000602214	0.000646338	1	1	0	T	160149499	G	T	160149499	3	4	81	1	0	0	0	0	1	0	0	0	14839	991	35	4	3261	4	SMC4	3	160149499	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	648	160149499	37872931	3438	7054											
TRIM59	286827	broad.mit.edu	37	3	160156009	160156009	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:160156009T>G	ENST00000309784.4	-	3	1148	c.963A>C	c.(961-963)gaA>gaC	p.E321D	RP11-432B6.3_ENST00000483754.1_Intron|TRIM59_ENST00000543469.1_Intron	NM_173084.2	NP_775107.1	Q8IWR1	TRI59_HUMAN	tripartite motif containing 59	321						integral to membrane|intracellular	zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|urinary_tract(3)	15			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			CAACTTCCTTTTCATCCTTAC	0.318													40	52					0	0	1	0	0	G	160156009	T	G	160156009	3	3	81	1	0	0	0	0	1	0	0	0	16593	1838	64	5	252	5	TRIM59	3	160156009	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	6510	160156009	37866421	3439	7055											
ARL14	80117	broad.mit.edu	37	3	160395143	160395143	+	Silent	SNP	G	G	A	rs144011121		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:160395143G>A	ENST00000320767.2	+	1	196	c.9G>A	c.(7-9)tcG>tcA	p.S3S		NM_025047.2	NP_079323.1	Q8N4G2	ARL14_HUMAN	ADP-ribosylation factor-like 14	3					small GTPase mediated signal transduction	intracellular	GTP binding			lung(6)	6			Lung(72;7.02e-05)|LUSC - Lung squamous cell carcinoma(72;7.23e-05)			AAATGGGTTCGCTGGGTTCTA	0.393													30	36					0	0	1	0	0	A	160395143	G	A	160395143	2	1	81	1	0	0	0	0	0	0	0	1	927	1074	38	1		1	ARL14	3	160395143	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	239134	160395143	37627287	3440	7056											
NMD3	51068	broad.mit.edu	37	3	160945126	160945126	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:160945126A>C	ENST00000460469.1	+	3	726	c.271A>C	c.(271-273)Agt>Cgt	p.S91R	NMD3_ENST00000351193.2_Missense_Mutation_p.S91R|NMD3_ENST00000478160.1_3'UTR|NMD3_ENST00000472947.1_Missense_Mutation_p.S91R			Q96D46	NMD3_HUMAN	NMD3 ribosome export adaptor	91					protein transport	cytoplasm|nucleolus|nucleoplasm				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(10)|ovary(1)|skin(1)|urinary_tract(2)	25			Lung(72;0.00111)|LUSC - Lung squamous cell carcinoma(72;0.00156)			AGCCCCTCTGAGTAAGGTAAG	0.348													21	41					0	0	1	0	0	C	160945126	A	C	160945126	3	2	81	1	0	0	0	0	1	0	0	0	10535	304	11	5	281	5	NMD3	3	160945126	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	549983	160945126	37077304	3441	7057											
OTOL1	131149	broad.mit.edu	37	3	161221326	161221326	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:161221326G>A	ENST00000327928.4	+	4	1030	c.1030G>A	c.(1030-1032)Gct>Act	p.A344T		NM_001080440.1	NP_001073909.1	A6NHN0	OTOL1_HUMAN	otolin 1	344	C1q.					collagen				central_nervous_system(2)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)	27						GCCCCGGTCGGCTTTCAGCGC	0.522													5	32					0	0	1	0	0	A	161221326	G	A	161221326	3	1	81	1	0	0	0	0	1	0	0	0	11351	1203	42	2	1044	2	OTOL1	3	161221326	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	276200	161221326	36801104	3442	7058											
SI	6476	broad.mit.edu	37	3	164700137	164700137	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:164700137C>A	ENST00000264382.3	-	47	5371	c.5309G>T	c.(5308-5310)gGa>gTa	p.G1770V		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1770	Sucrase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	ATGAAGGGATCCAAGCCTCGT	0.343										HNSCC(35;0.089)			17	37					0.00400662	0.00421823	1	1	0	A	164700137	C	A	164700137	3	1	81	1	0	0	0	0	1	0	0	0	14352	855	30	5	182	5	SI	3	164700137	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3478811	164700137	33322293	3443	7059											
SI	6476	broad.mit.edu	37	3	164750400	164750400	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:164750400C>T	ENST00000264382.3	-	24	2708	c.2646G>A	c.(2644-2646)ggG>ggA	p.G882G		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	882	Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	TGTCTGTCAACCCAAGGATTT	0.358										HNSCC(35;0.089)			17	34					0	0	1	0	0	T	164750400	C	T	164750400	2	4	81	1	0	0	0	0	0	0	0	1	14352	494	18	2		2	SI	3	164750400	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	50263	164750400	33272030	3444	7060											
SI	6476	broad.mit.edu	37	3	164776843	164776843	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:164776843C>T	ENST00000264382.3	-	12	1368	c.1306G>A	c.(1306-1308)Gcc>Acc	p.A436T		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	436	Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	GTTCCATTGGCACGTCGACCT	0.363										HNSCC(35;0.089)			16	20					0	0	1	0	0	T	164776843	C	T	164776843	3	4	81	1	0	0	0	0	1	0	0	0	14352	710	25	2	4325	2	SI	3	164776843	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	26443	164776843	33245587	3445	7061											
SLITRK3	22865	broad.mit.edu	37	3	164905746	164905746	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:164905746G>A	ENST00000475390.1	-	2	3316	c.2873C>T	c.(2872-2874)gCc>gTc	p.A958V	SLITRK3_ENST00000241274.3_Missense_Mutation_p.A958V			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	958						integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						TTGAAGTTTGGCCCTTAACTC	0.428										HNSCC(40;0.11)			15	181					0	0	1	0	0	A	164905746	G	A	164905746	3	1	81	1	0	0	0	0	1	0	0	0	14798	1203	42	2	64	2	SLITRK3	3	164905746	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	128903	164905746	33116684	3446	7062											
SLITRK3	22865	broad.mit.edu	37	3	164908014	164908014	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:164908014T>C	ENST00000475390.1	-	2	1048	c.605A>G	c.(604-606)gAc>gGc	p.D202G	SLITRK3_ENST00000241274.3_Missense_Mutation_p.D202G			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	202						integral to membrane		p.D202G(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						TCCACGTAGGTCCAAATGGGT	0.408										HNSCC(40;0.11)			4	51					0	0	1	0	0	C	164908014	T	C	164908014	3	2	81	1	0	0	0	0	1	0	0	0	14798	1667	58	3	2332	3	SLITRK3	3	164908014	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	2268	164908014	33114416	3447	7063											
SERPINI2	5276	broad.mit.edu	37	3	167189515	167189515	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:167189515C>A	ENST00000476257.1	-	3	406	c.108G>T	c.(106-108)gaG>gaT	p.E36D	SERPINI2_ENST00000465031.1_5'UTR|SERPINI2_ENST00000471111.1_Missense_Mutation_p.E36D|SERPINI2_ENST00000264677.4_Missense_Mutation_p.E36D|SERPINI2_ENST00000461846.1_Missense_Mutation_p.E36D			O75830	SPI2_HUMAN	serpin peptidase inhibitor, clade I (pancpin), member 2	36					cellular component movement|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(20)|prostate(1)|skin(5)|urinary_tract(1)	41						ATAAGGAAACCTCTTGATAAA	0.398													18	112					3.41278e-10	4.16681e-10	1	1	0	A	167189515	C	A	167189515	3	1	81	1	0	0	0	0	1	0	0	0	14173	680	24	4	1141	4	SERPINI2	3	167189515	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2281501	167189515	30832915	3448	7064											
WDR49	151790	broad.mit.edu	37	3	167245662	167245662	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:167245662G>C	ENST00000308378.3	-	11	1799	c.1494C>G	c.(1492-1494)gaC>gaG	p.D498E	WDR49_ENST00000476376.1_Missense_Mutation_p.D323E|WDR49_ENST00000453925.2_Intron|WDR49_ENST00000479765.1_Intron	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN	WD repeat domain 49	498										breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						AAATACTGCAGTCTGCAGAGG	0.403													20	31					0	0	1	0	0	C	167245662	G	C	167245662	3	2	81	1	0	0	0	0	1	0	0	0	17362	1020	36	4	619	4	WDR49	3	167245662	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	56147	167245662	30776768	3449	7065											
WDR49	151790	broad.mit.edu	37	3	167245747	167245747	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:167245747G>A	ENST00000308378.3	-	11	1714	c.1409C>T	c.(1408-1410)tCa>tTa	p.S470L	WDR49_ENST00000476376.1_Missense_Mutation_p.S295L|WDR49_ENST00000453925.2_Intron|WDR49_ENST00000479765.1_Intron	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN	WD repeat domain 49	470										breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						AGGTTGGAATGATCTTATCAG	0.403													8	57					0	0	1	0	0	A	167245747	G	A	167245747	3	1	81	1	0	0	0	0	1	0	0	0	17362	1294	45	2	704	2	WDR49	3	167245747	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	85	167245747	30776683	3450	7066											
WDR49	151790	broad.mit.edu	37	3	167248987	167248987	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:167248987G>A	ENST00000308378.3	-	9	1383	c.1078C>T	c.(1078-1080)Cgc>Tgc	p.R360C	WDR49_ENST00000476376.1_Missense_Mutation_p.R185C|WDR49_ENST00000453925.2_Missense_Mutation_p.R424C|WDR49_ENST00000479765.1_Intron	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN	WD repeat domain 49	360										breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						TCAAAGTTGCGGACTCCCGTG	0.438													4	68					0	0	1	0	0	A	167248987	G	A	167248987	3	1	81	1	0	0	0	0	1	0	0	0	17362	1116	39	1	1043	1	WDR49	3	167248987	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	3240	167248987	30773443	3451	7067											
SERPINI1	5274	broad.mit.edu	37	3	167510432	167510432	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:167510432C>T	ENST00000295777.5	+	4	967	c.536C>T	c.(535-537)gCc>gTc	p.A179V	SERPINI1_ENST00000446050.2_Missense_Mutation_p.A179V	NM_005025.4	NP_005016.1	Q99574	NEUS_HUMAN	serpin peptidase inhibitor, clade I (neuroserpin), member 1	179					central nervous system development|peripheral nervous system development|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(7)|skin(2)	20						ACTTATCTGGCCCTCATTAAT	0.368													36	52					0	0	1	0	0	T	167510432	C	T	167510432	3	4	81	1	0	0	0	0	1	0	0	0	14172	739	26	2	546	2	SERPINI1	3	167510432	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	261445	167510432	30511998	3452	7068											
MECOM	2122	broad.mit.edu	37	3	168802722	168802722	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:168802722G>A	ENST00000464456.1	-	15	4304	c.3104C>T	c.(3103-3105)gCt>gTt	p.A1035V	MECOM_ENST00000264674.3_Missense_Mutation_p.A1109V|MECOM_ENST00000468789.1_Missense_Mutation_p.A1044V|MECOM_ENST00000392736.3_Missense_Mutation_p.A1044V|MECOM_ENST00000460814.1_3'UTR|MECOM_ENST00000494292.1_Missense_Mutation_p.A1223V|MECOM_ENST00000472280.1_Missense_Mutation_p.A1045V|MECOM_ENST00000433243.2_Missense_Mutation_p.A1045V	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						GGACTGGATAGCACTGGATTC	0.498													32	59					0	0	1	0	0	A	168802722	G	A	168802722	3	1	81	1	0	0	0	0	1	0	0	0	9472	971	34	2	28	2	MECOM	3	168802722	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1292290	168802722	29219708	3453	7069											
MECOM	2122	broad.mit.edu	37	3	168834323	168834323	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:168834323G>T	ENST00000464456.1	-	7	1973	c.773C>A	c.(772-774)cCt>cAt	p.P258H	MECOM_ENST00000264674.3_Missense_Mutation_p.P323H|MECOM_ENST00000468789.1_Missense_Mutation_p.P258H|MECOM_ENST00000392736.3_Missense_Mutation_p.P258H|MECOM_ENST00000460814.1_Missense_Mutation_p.P258H|MECOM_ENST00000494292.1_Missense_Mutation_p.P446H|MECOM_ENST00000472280.1_Missense_Mutation_p.P259H|MECOM_ENST00000433243.2_Missense_Mutation_p.P259H	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						TGGGGTTCCAGGAAGTGAAAT	0.473													12	87					3.03607e-14	3.84953e-14	1	1	0	T	168834323	G	T	168834323	3	4	81	1	0	0	0	0	1	0	0	0	9472	1000	35	4	2422	4	MECOM	3	168834323	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	31601	168834323	29188107	3454	7070											
MECOM	2122	broad.mit.edu	37	3	168834464	168834464	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:168834464G>A	ENST00000464456.1	-	7	1832	c.632C>T	c.(631-633)gCt>gTt	p.A211V	MECOM_ENST00000264674.3_Missense_Mutation_p.A276V|MECOM_ENST00000468789.1_Missense_Mutation_p.A211V|MECOM_ENST00000392736.3_Missense_Mutation_p.A211V|MECOM_ENST00000460814.1_Missense_Mutation_p.A211V|MECOM_ENST00000494292.1_Missense_Mutation_p.A399V|MECOM_ENST00000472280.1_Missense_Mutation_p.A212V|MECOM_ENST00000433243.2_Missense_Mutation_p.A212V	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						TCTGCAATCAGCATGCATGCG	0.418													56	84					0	0	1	0	0	A	168834464	G	A	168834464	3	1	81	1	0	0	0	0	1	0	0	0	9472	971	34	2	2563	2	MECOM	3	168834464	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	141	168834464	29187966	3455	7071											
MECOM	2122	broad.mit.edu	37	3	168840452	168840452	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:168840452C>A	ENST00000464456.1	-	5	1530	c.330G>T	c.(328-330)aaG>aaT	p.K110N	MECOM_ENST00000264674.3_Missense_Mutation_p.K174N|MECOM_ENST00000468789.1_Missense_Mutation_p.K110N|MECOM_ENST00000392736.3_Missense_Mutation_p.K110N|MECOM_ENST00000460814.1_Missense_Mutation_p.K110N|MECOM_ENST00000494292.1_Missense_Mutation_p.K298N|MECOM_ENST00000472280.1_Missense_Mutation_p.K110N|MECOM_ENST00000433243.2_Missense_Mutation_p.K110N	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						AGTTAAATGCCTTGGGACACT	0.398													31	47					8.4185e-14	1.06458e-13	1	1	0	A	168840452	C	A	168840452	3	1	81	1	0	0	0	0	1	0	0	0	9472	680	24	4	2876	4	MECOM	3	168840452	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	5988	168840452	29181978	3456	7072											
MECOM	2122	broad.mit.edu	37	3	168849257	168849257	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:168849257G>A	ENST00000464456.1	-	3	1209	c.9C>T	c.(7-9)agC>agT	p.S3S	MECOM_ENST00000264674.3_Silent_p.S67S|MECOM_ENST00000468789.1_Silent_p.S3S|MECOM_ENST00000392736.3_Silent_p.S3S|MECOM_ENST00000460814.1_Silent_p.S3S|MECOM_ENST00000494292.1_Silent_p.S191S|MECOM_ENST00000472280.1_Silent_p.S3S|MECOM_ENST00000433243.2_Silent_p.S3S	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						GATAGTCTTCGCTCTTCATGA	0.458													16	25					0	0	1	0	0	A	168849257	G	A	168849257	2	1	81	1	0	0	0	0	0	0	0	1	9472	1078	38	1		1	MECOM	3	168849257	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	8805	168849257	29173173	3457	7073											
LRRC34	151827	broad.mit.edu	37	3	169525279	169525279	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:169525279C>A	ENST00000522526.2	-	4	817		c.e4-1		LRRC34_ENST00000316515.7_Splice_Site|LRRC34_ENST00000524327.1_Splice_Site|LRRC34_ENST00000522830.1_Splice_Site|LRRC34_ENST00000446859.1_Splice_Site			Q8IZ02	LRC34_HUMAN	leucine rich repeat containing 34											breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(2)	10	all_cancers(22;4.12e-22)|all_epithelial(15;7.54e-27)|all_lung(20;1.63e-16)|Lung NSC(18;6.92e-16)|Ovarian(172;0.000223)|Breast(254;0.197)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00676)			ACATCCAAACCTGAAGCACAG	0.333													27	50					1.77063e-15	2.25974e-15	1	1	0	A	169525279	C	A	169525279	5	1	81	1	0	0	0	0	0	0	1	0	9034	695	24	4	1069	4	LRRC34	3	169525279	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	676022	169525279	28497151	3458	7074											
LRRIQ4	344657	broad.mit.edu	37	3	169540229	169540229	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:169540229C>T	ENST00000340806.6	+	1	520	c.520C>T	c.(520-522)Cga>Tga	p.R174*		NM_001080460.1	NP_001073929.1	A6NIV6	LRIQ4_HUMAN	leucine-rich repeats and IQ motif containing 4	174										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30						CTACCTGAAGCGAAACCAGTT	0.507													20	50					0	0	1	0	0	T	169540229	C	T	169540229	4	4	81	1	0	0	0	0	0	1	0	0	9076	760	27	1	522	1	LRRIQ4	3	169540229	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	14950	169540229	28482201	3459	7075											
LRRIQ4	344657	broad.mit.edu	37	3	169540252	169540252	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:169540252C>T	ENST00000340806.6	+	1	543	c.543C>T	c.(541-543)ccC>ccT	p.P181P		NM_001080460.1	NP_001073929.1	A6NIV6	LRIQ4_HUMAN	leucine-rich repeats and IQ motif containing 4	181										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30						AAGTTTTCCCCCAGGAGCTCT	0.512													6	69					0	0	1	0	0	T	169540252	C	T	169540252	2	4	81	1	0	0	0	0	0	0	0	1	9076	610	22	2		2	LRRIQ4	3	169540252	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	23	169540252	28482178	3460	7076											
LRRC31	79782	broad.mit.edu	37	3	169574164	169574164	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:169574164T>C	ENST00000316428.5	-	5	840	c.783A>G	c.(781-783)ttA>ttG	p.L261L	LRRC31_ENST00000264676.5_Silent_p.L205L|LRRC31_ENST00000397805.2_5'UTR|LRRC31_ENST00000523069.1_Silent_p.L261L	NM_001277127.1|NM_024727.2	NP_001264056.1|NP_079003.2	Q6UY01	LRC31_HUMAN	leucine rich repeat containing 31	261										cervix(3)|endometrium(3)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	31	all_cancers(22;2.76e-22)|all_epithelial(15;4.73e-27)|all_lung(20;9.24e-17)|Lung NSC(18;3.85e-16)|Ovarian(172;0.000223)|Breast(254;0.197)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00943)			CACATGAATGTAACTTCAGTA	0.323													10	80					0	0	1	0	0	C	169574164	T	C	169574164	2	2	81	1	0	0	0	0	0	0	0	1	9031	1635	57	3		3	LRRC31	3	169574164	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	33912	169574164	28448266	3461	7077											
LRRC31	79782	broad.mit.edu	37	3	169574503	169574503	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:169574503C>T	ENST00000316428.5	-	4	702	c.645G>A	c.(643-645)ggG>ggA	p.G215G	LRRC31_ENST00000264676.5_Silent_p.G159G|LRRC31_ENST00000397805.2_5'UTR|LRRC31_ENST00000523069.1_Silent_p.G215G	NM_001277127.1|NM_024727.2	NP_001264056.1|NP_079003.2	Q6UY01	LRC31_HUMAN	leucine rich repeat containing 31	215										cervix(3)|endometrium(3)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	31	all_cancers(22;2.76e-22)|all_epithelial(15;4.73e-27)|all_lung(20;9.24e-17)|Lung NSC(18;3.85e-16)|Ovarian(172;0.000223)|Breast(254;0.197)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00943)			CCAGAAATGTCCCATCTTCTG	0.403													16	35					0	0	1	0	0	T	169574503	C	T	169574503	2	4	81	1	0	0	0	0	0	0	0	1	9031	842	30	2		2	LRRC31	3	169574503	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	339	169574503	28447927	3462	7078											
SAMD7	344658	broad.mit.edu	37	3	169644693	169644693	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:169644693G>A	ENST00000428432.2	+	6	1032	c.643G>A	c.(643-645)Gca>Aca	p.A215T	SAMD7_ENST00000335556.3_Missense_Mutation_p.A215T	NM_182610.2	NP_872416.1	Q7Z3H4	SAMD7_HUMAN	sterile alpha motif domain containing 7	215										NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)			TCAGACTCATGCAGTTCCCTA	0.433													9	58					0	0	1	0	0	A	169644693	G	A	169644693	3	1	81	1	0	0	0	0	1	0	0	0	13876	1319	46	2	657	2	SAMD7	3	169644693	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	70190	169644693	28377737	3463	7079											
SAMD7	344658	broad.mit.edu	37	3	169644878	169644878	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:169644878C>T	ENST00000428432.2	+	6	1217	c.828C>T	c.(826-828)gaC>gaT	p.D276D	SAMD7_ENST00000335556.3_Silent_p.D276D	NM_182610.2	NP_872416.1	Q7Z3H4	SAMD7_HUMAN	sterile alpha motif domain containing 7	276										NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)			AGGCCTGGGACGATGGGAAAG	0.562													19	40					0	0	1	0	0	T	169644878	C	T	169644878	2	4	81	1	0	0	0	0	0	0	0	1	13876	535	19	1		1	SAMD7	3	169644878	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	185	169644878	28377552	3464	7080											
GPR160	26996	broad.mit.edu	37	3	169802423	169802423	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:169802423C>A	ENST00000355897.5	+	4	1271	c.663C>A	c.(661-663)atC>atA	p.I221I		NM_014373.2	NP_055188.1	Q9UJ42	GP160_HUMAN	G protein-coupled receptor 160	221						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|cervix(1)|kidney(1)|large_intestine(3)|lung(2)	8	all_cancers(22;3.26e-22)|all_epithelial(15;5.71e-27)|all_lung(20;8.41e-17)|Lung NSC(18;3.49e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)			ATGAAACTATCTTATATTTTC	0.338													8	72					7.48243e-07	8.64403e-07	1	1	0	A	169802423	C	A	169802423	2	1	81	1	0	0	0	0	0	0	0	1	6704	903	32	4		4	GPR160	3	169802423	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	157545	169802423	28220007	3465	7081											
PHC3	80012	broad.mit.edu	37	3	169820406	169820406	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:169820406G>A	ENST00000495893.2	-	14	2725	c.2694C>T	c.(2692-2694)agC>agT	p.S898S	PHC3_ENST00000494943.1_Silent_p.S886S|PHC3_ENST00000467570.1_3'UTR	NM_024947.3	NP_079223.3	Q8NDX5	PHC3_HUMAN	polyhomeotic homolog 3 (Drosophila)						multicellular organismal development	PcG protein complex	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|upper_aerodigestive_tract(2)	26	all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)			TTTCCCGCTCGCTCTGCCTGC	0.473													28	50					0	0	1	0	0	A	169820406	G	A	169820406	2	1	81	1	0	0	0	0	0	0	0	1	11866	1078	38	1		1	PHC3	3	169820406	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	17983	169820406	28202024	3466	7082											
PHC3	80012	broad.mit.edu	37	3	169863241	169863241	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:169863241C>T	ENST00000495893.2	-	6	673	c.642G>A	c.(640-642)tcG>tcA	p.S214S	PHC3_ENST00000494943.1_Silent_p.S202S|PHC3_ENST00000467570.1_Silent_p.S161S	NM_024947.3	NP_079223.3	Q8NDX5	PHC3_HUMAN	polyhomeotic homolog 3 (Drosophila)		Ser-rich.				multicellular organismal development	PcG protein complex	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|upper_aerodigestive_tract(2)	26	all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)			AGGAAGATGACGATGACGACG	0.438													10	19					0	0	1	0	0	T	169863241	C	T	169863241	2	4	81	1	0	0	0	0	0	0	0	1	11866	523	19	1		1	PHC3	3	169863241	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	42835	169863241	28159189	3467	7083	29	2									
PHC3	80012	broad.mit.edu	37	3	169863247	169863247	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:169863247C>T	ENST00000495893.2	-	6	667	c.636G>A	c.(634-636)tcG>tcA	p.S212S	PHC3_ENST00000494943.1_Silent_p.S200S|PHC3_ENST00000467570.1_Silent_p.S159S	NM_024947.3	NP_079223.3	Q8NDX5	PHC3_HUMAN	polyhomeotic homolog 3 (Drosophila)		Ser-rich.				multicellular organismal development	PcG protein complex	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|upper_aerodigestive_tract(2)	26	all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)			ATGACGATGACGACGAGACAA	0.438													12	15					0	0	1	0	0	T	169863247	C	T	169863247	2	4	81	1	0	0	0	0	0	0	0	1	11866	523	19	1		1	PHC3	3	169863247	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	6	169863247	28159183	3468	7084	29	2									
PRKCI	5584	broad.mit.edu	37	3	169977800	169977800	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:169977800C>A	ENST00000295797.4	+	3	572	c.267C>A	c.(265-267)gcC>gcA	p.A89A		NM_002740.5	NP_002731.4	P41743	KPCI_HUMAN	protein kinase C, iota	89	Interaction with PARD6A.|OPR.|Regulatory domain.				anti-apoptosis|cellular membrane organization|cellular response to insulin stimulus|establishment or maintenance of epithelial cell apical/basal polarity|intracellular signal transduction|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|protein targeting to membrane|secretion|tight junction assembly|vesicle-mediated transport	cytosol|endosome|nucleus|polarisome	ATP binding|phospholipid binding|protein binding|protein kinase C activity|zinc ion binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	36	all_cancers(22;6.45e-23)|all_epithelial(15;8.52e-28)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)			TAGAAGAAGCCTTTAGACTTT	0.353													8	65					3.09899e-07	3.60815e-07	1	1	0	A	169977800	C	A	169977800	2	1	81	1	0	0	0	0	0	0	0	1	12566	668	24	4		4	PRKCI	3	169977800	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	114553	169977800	28044630	3469	7085											
PRKCI	5584	broad.mit.edu	37	3	170002337	170002337	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:170002337C>A	ENST00000295797.4	+	12	1461	c.1156C>A	c.(1156-1158)Ctg>Atg	p.L386M		NM_002740.5	NP_002731.4	P41743	KPCI_HUMAN	protein kinase C, iota	386	Protein kinase.				anti-apoptosis|cellular membrane organization|cellular response to insulin stimulus|establishment or maintenance of epithelial cell apical/basal polarity|intracellular signal transduction|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|protein targeting to membrane|secretion|tight junction assembly|vesicle-mediated transport	cytosol|endosome|nucleus|polarisome	ATP binding|phospholipid binding|protein binding|protein kinase C activity|zinc ion binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	36	all_cancers(22;6.45e-23)|all_epithelial(15;8.52e-28)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)			CAATGTATTACTGGACTCTGA	0.338													6	63					0.00116845	0.00124301	1	1	0	A	170002337	C	A	170002337	3	1	81	1	0	0	0	0	1	0	0	0	12566	564	20	4	1202	4	PRKCI	3	170002337	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	24537	170002337	28020093	3470	7086											
SKIL	6498	broad.mit.edu	37	3	170078168	170078168	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:170078168A>C	ENST00000458537.3	+	1	758	c.49A>C	c.(49-51)Aaa>Caa	p.K17Q	SKIL_ENST00000259119.4_Missense_Mutation_p.K17Q|SKIL_ENST00000426052.2_5'UTR|SKIL_ENST00000413427.2_Missense_Mutation_p.K17Q	NM_001145097.2|NM_001248008.1|NM_005414.4	NP_001138569.1|NP_001234937.1|NP_005405.2	P12757	SKIL_HUMAN	SKI-like oncogene	17					cell cycle arrest|negative regulation of cell differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of axonogenesis|protein heterotrimerization|protein homotrimerization|regulation of apoptosis|response to antibiotic|response to growth factor stimulus|skeletal muscle tissue development	cytoplasm|PML body	chromatin binding|nucleotide binding|protein complex binding|protein domain specific binding|SMAD binding|transcription corepressor activity|transcription repressor activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	25	all_cancers(22;7.13e-23)|all_epithelial(15;9.95e-28)|all_lung(20;1.23e-16)|Lung NSC(18;5.15e-16)|Ovarian(172;0.000337)|Breast(254;0.137)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)			CTCAACTAAAAAACTGAATGG	0.388													30	46					0	0	1	0	0	C	170078168	A	C	170078168	3	2	81	1	0	0	0	0	1	0	0	0	14413	15	1	5	51	5	SKIL	3	170078168	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	75831	170078168	27944262	3471	7087											
SKIL	6498	broad.mit.edu	37	3	170102422	170102422	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:170102422C>T	ENST00000458537.3	+	3	2007	c.1298C>T	c.(1297-1299)tCc>tTc	p.S433F	SKIL_ENST00000259119.4_Missense_Mutation_p.S433F|SKIL_ENST00000426052.2_Missense_Mutation_p.S413F|SKIL_ENST00000413427.2_Intron	NM_001145097.2|NM_001248008.1|NM_005414.4	NP_001138569.1|NP_001234937.1|NP_005405.2	P12757	SKIL_HUMAN	SKI-like oncogene	433					cell cycle arrest|negative regulation of cell differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of axonogenesis|protein heterotrimerization|protein homotrimerization|regulation of apoptosis|response to antibiotic|response to growth factor stimulus|skeletal muscle tissue development	cytoplasm|PML body	chromatin binding|nucleotide binding|protein complex binding|protein domain specific binding|SMAD binding|transcription corepressor activity|transcription repressor activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	25	all_cancers(22;7.13e-23)|all_epithelial(15;9.95e-28)|all_lung(20;1.23e-16)|Lung NSC(18;5.15e-16)|Ovarian(172;0.000337)|Breast(254;0.137)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)			GCAAGTAAGTCCATATCAAGA	0.403													8	95					0	0	1	0	0	T	170102422	C	T	170102422	3	4	81	1	0	0	0	0	1	0	0	0	14413	855	30	2	1308	2	SKIL	3	170102422	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	24254	170102422	27920008	3472	7088											
SLC7A14	57709	broad.mit.edu	37	3	170204111	170204111	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:170204111T>C	ENST00000231706.5	-	5	1121	c.806A>G	c.(805-807)gAc>gGc	p.D269G	CLDN11_ENST00000486975.1_Intron|CLDN11_ENST00000451576.1_Intron	NM_020949.2	NP_066000.2	Q8TBB6	S7A14_HUMAN	solute carrier family 7, member 14							integral to membrane	amino acid transmembrane transporter activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4)	53	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)			GGCGATGATGTCAAAGCCAAT	0.527													17	32					0	0	1	0	0	C	170204111	T	C	170204111	3	2	81	1	0	0	0	0	1	0	0	0	14751	1667	58	3	1525	3	SLC7A14	3	170204111	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	101689	170204111	27818319	3473	7089											
TNIK	23043	broad.mit.edu	37	3	170819285	170819285	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:170819285G>A	ENST00000436636.2	-	22	2888	c.2544C>T	c.(2542-2544)agC>agT	p.S848S	TNIK_ENST00000284483.8_Silent_p.S840S|TNIK_ENST00000369326.5_Silent_p.S826S|TNIK_ENST00000538048.1_Silent_p.S800S|TNIK_ENST00000475336.1_Silent_p.S756S|TNIK_ENST00000470834.1_Silent_p.S811S|TNIK_ENST00000341852.6_Silent_p.S764S|TNIK_ENST00000488470.1_Silent_p.S793S|TNIK_ENST00000357327.5_Silent_p.S819S|TNIK_ENST00000460047.1_Silent_p.S785S	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	848	Mediates interaction with NEDD4.				actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	p.S848S(2)		cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			CATGGGTCTCGCTCTCTCCAT	0.488													104	192					0	0	1	0	0	A	170819285	G	A	170819285	2	1	81	1	0	0	0	0	0	0	0	1	16373	1078	38	1		1	TNIK	3	170819285	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	615174	170819285	27203145	3474	7090											
PLD1	5337	broad.mit.edu	37	3	171330140	171330140	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:171330140A>G	ENST00000356327.5	-	24	2767	c.2697T>C	c.(2695-2697)gtT>gtC	p.V899V	PLD1_ENST00000340989.4_Silent_p.V937V|PLD1_ENST00000351298.4_Silent_p.V937V|PLD1_ENST00000342215.6_3'UTR	NM_001130081.2	NP_001123553.1	Q13393	PLD1_HUMAN	phospholipase D1, phosphatidylcholine-specific	937	Catalytic.|PLD phosphodiesterase 2.				cell communication|chemotaxis|Ras protein signal transduction	endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	TTACTGAAGGAACAGTCTCTG	0.498													3	46					0	0	1	0	0	G	171330140	A	G	171330140	2	3	81	1	0	0	0	0	0	0	0	1	12093	233	9	3		3	PLD1	3	171330140	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	510855	171330140	26692290	3475	7091											
PLD1	5337	broad.mit.edu	37	3	171392294	171392294	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:171392294A>T	ENST00000356327.5	-	18	2181	c.2111T>A	c.(2110-2112)gTa>gAa	p.V704E	PLD1_ENST00000340989.4_Missense_Mutation_p.V742E|PLD1_ENST00000351298.4_Missense_Mutation_p.V742E|PLD1_ENST00000342215.6_3'UTR	NM_001130081.2	NP_001123553.1	Q13393	PLD1_HUMAN	phospholipase D1, phosphatidylcholine-specific	742	Catalytic.				cell communication|chemotaxis|Ras protein signal transduction	endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	ACTTACCTGTACGTTAGCATG	0.393													28	34					0	0	1	0	0	T	171392294	A	T	171392294	3	4	81	1	0	0	0	0	1	0	0	0	12093	391	14	5	1035	5	PLD1	3	171392294	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	62154	171392294	26630136	3476	7092	30	2									
PLD1	5337	broad.mit.edu	37	3	171392295	171392295	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:171392295C>T	ENST00000356327.5	-	18	2180	c.2110G>A	c.(2110-2112)Gta>Ata	p.V704I	PLD1_ENST00000340989.4_Missense_Mutation_p.V742I|PLD1_ENST00000351298.4_Missense_Mutation_p.V742I|PLD1_ENST00000342215.6_3'UTR	NM_001130081.2	NP_001123553.1	Q13393	PLD1_HUMAN	phospholipase D1, phosphatidylcholine-specific	742	Catalytic.				cell communication|chemotaxis|Ras protein signal transduction	endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	CTTACCTGTACGTTAGCATGG	0.393													10	54					0	0	1	0	0	T	171392295	C	T	171392295	3	4	81	1	0	0	0	0	1	0	0	0	12093	536	19	1	1036	1	PLD1	3	171392295	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1	171392295	26630135	3477	7093	30	2									
PLD1	5337	broad.mit.edu	37	3	171417543	171417543	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:171417543G>A	ENST00000356327.5	-	12	1289	c.1219C>T	c.(1219-1221)Cga>Tga	p.R407*	PLD1_ENST00000340989.4_Nonsense_Mutation_p.R407*|PLD1_ENST00000351298.4_Nonsense_Mutation_p.R407*|PLD1_ENST00000342215.6_Nonsense_Mutation_p.R407*	NM_001130081.2	NP_001123553.1	Q13393	PLD1_HUMAN	phospholipase D1, phosphatidylcholine-specific	407					cell communication|chemotaxis|Ras protein signal transduction	endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	ACTGCTTTTCGTTTAAGAATG	0.383													151	208					0	0	1	0	0	A	171417543	G	A	171417543	4	1	81	1	0	0	0	0	0	1	0	0	12093	1153	40	1	2069	1	PLD1	3	171417543	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	25248	171417543	26604887	3478	7094											
PLD1	5337	broad.mit.edu	37	3	171426565	171426565	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:171426565C>T	ENST00000356327.5	-	11	1195	c.1125G>A	c.(1123-1125)gaG>gaA	p.E375E	PLD1_ENST00000340989.4_Silent_p.E375E|PLD1_ENST00000351298.4_Silent_p.E375E|PLD1_ENST00000342215.6_Silent_p.E375E	NM_001130081.2	NP_001123553.1	Q13393	PLD1_HUMAN	phospholipase D1, phosphatidylcholine-specific	375					cell communication|chemotaxis|Ras protein signal transduction	endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	TGATAAAAATCTCTTCATTTG	0.338													18	37					0	0	1	0	0	T	171426565	C	T	171426565	2	4	81	1	0	0	0	0	0	0	0	1	12093	912	32	2		2	PLD1	3	171426565	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	9022	171426565	26595865	3479	7095											
FNDC3B	64778	broad.mit.edu	37	3	171969176	171969176	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:171969176C>T	ENST00000336824.4	+	6	734	c.635C>T	c.(634-636)tCt>tTt	p.S212F	FNDC3B_ENST00000416957.1_Missense_Mutation_p.S212F|FNDC3B_ENST00000415807.2_Missense_Mutation_p.S212F	NM_001135095.1	NP_001128567.1	Q53EP0	FND3B_HUMAN	fibronectin type III domain containing 3B	212				S -> A (in Ref. 1; BAC53727).		endoplasmic reticulum|integral to membrane		p.S212delS(1)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	69	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)		CCTCCTTCTTCTATCTACAAA	0.537													10	23					0	0	1	0	0	T	171969176	C	T	171969176	3	4	81	1	0	0	0	0	1	0	0	0	6003	913	32	2	653	2	FNDC3B	3	171969176	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	542611	171969176	26053254	3480	7096											
FNDC3B	64778	broad.mit.edu	37	3	172065003	172065003	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:172065003G>T	ENST00000336824.4	+	21	2465	c.2366G>T	c.(2365-2367)aGt>aTt	p.S789I	FNDC3B_ENST00000416957.1_Splice_Site_p.S789I|FNDC3B_ENST00000415807.2_Splice_Site_p.S789I	NM_001135095.1	NP_001128567.1	Q53EP0	FND3B_HUMAN	fibronectin type III domain containing 3B	789	Fibronectin type-III 6.					endoplasmic reticulum|integral to membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	69	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)		CCTTTCCAGAGTCCTGATAGT	0.413													35	64					2.40579e-17	3.1027e-17	1	1	0	T	172065003	G	T	172065003	5	4	81	1	0	0	0	0	0	0	1	0	6003	1043	36	4	2444	4	FNDC3B	3	172065003	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	95827	172065003	25957427	3481	7097											
ECT2	1894	broad.mit.edu	37	3	172482124	172482124	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:172482124C>T	ENST00000417960.1	+	12	1506	c.1029C>T	c.(1027-1029)aaC>aaT	p.N343N	ECT2_ENST00000540509.1_Silent_p.N375N|ECT2_ENST00000441497.2_Silent_p.N344N|ECT2_ENST00000392692.3_Silent_p.N375N|ECT2_ENST00000232458.5_Silent_p.N344N|ECT2_ENST00000427830.1_Silent_p.N344N	NM_001258316.1	NP_001245245.1	Q9H8V3	ECT2_HUMAN	epithelial cell transforming sequence 2 oncogene	344					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity|signal transducer activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)			ATACCCCTAACAGCAATCGCA	0.443													23	30					0	0	1	0	0	T	172482124	C	T	172482124	2	4	81	1	0	0	0	0	0	0	0	1	4927	477	17	2		2	ECT2	3	172482124	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	417121	172482124	25540306	3482	7098											
ECT2	1894	broad.mit.edu	37	3	172482141	172482141	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:172482141G>A	ENST00000417960.1	+	12	1523	c.1046G>A	c.(1045-1047)cGt>cAt	p.R349H	ECT2_ENST00000540509.1_Missense_Mutation_p.R381H|ECT2_ENST00000441497.2_Missense_Mutation_p.R350H|ECT2_ENST00000392692.3_Missense_Mutation_p.R381H|ECT2_ENST00000232458.5_Missense_Mutation_p.R350H|ECT2_ENST00000427830.1_Missense_Mutation_p.R350H	NM_001258316.1	NP_001245245.1	Q9H8V3	ECT2_HUMAN	epithelial cell transforming sequence 2 oncogene	350					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity|signal transducer activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)			CGCAAACGACGTCGTTTAAAA	0.453													28	36					0	0	1	0	0	A	172482141	G	A	172482141	3	1	81	1	0	0	0	0	1	0	0	0	4927	1145	40	1	1087	1	ECT2	3	172482141	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	17	172482141	25540289	3483	7099											
ECT2	1894	broad.mit.edu	37	3	172525559	172525559	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:172525559G>A	ENST00000417960.1	+	22	2626		c.e22-1		ECT2_ENST00000540509.1_Splice_Site|ECT2_ENST00000441497.2_Splice_Site|ECT2_ENST00000392692.3_Splice_Site|ECT2_ENST00000232458.5_Splice_Site|ECT2_ENST00000427830.1_Splice_Site	NM_001258316.1	NP_001245245.1	Q9H8V3	ECT2_HUMAN	epithelial cell transforming sequence 2 oncogene						apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity|signal transducer activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)			TGGAACCCTAGATTGCCATAA	0.398													25	55					0	0	1	0	0	A	172525559	G	A	172525559	5	1	81	1	0	0	0	0	0	0	1	0	4927	956	33	2	2230	2	ECT2	3	172525559	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	43418	172525559	25496871	3484	7100											
NLGN1	22871	broad.mit.edu	37	3	173993227	173993228	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:173993227_173993228insT	ENST00000457714.1	+	5	1198_1199	c.769_770insT	c.(769-771)gttfs	p.V257fs	NLGN1_ENST00000361589.4_Frame_Shift_Ins_p.V257fs|NLGN1_ENST00000401917.3_Frame_Shift_Ins_p.V297fs|NLGN1_ENST00000466350.1_3'UTR|NLGN1_ENST00000545397.1_Frame_Shift_Ins_p.V257fs	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	274					calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			AAGAATCACTGTTTTTGGATCT	0.431													38	67	---	---	---	---						T	173993228	-	T	173993227	7	5	81	1	0	1	1	0	0	0	0	0	10508	1377	48	0	779	0	NLGN1	3	173993227	Frame_Shift_Ins	INS	-	TCGA-DU-6392-01A-11D-1705-08	1467668	173993227	24029203	3485	7101											
NAALADL2	254827	broad.mit.edu	37	3	174814914	174814914	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:174814914delA	ENST00000454872.1	+	2	506	c.378delA	c.(376-378)ttafs	p.L126fs	NAALADL2-AS3_ENST00000453180.1_RNA|NAALADL2_ENST00000473253.1_3'UTR	NM_207015.2	NP_996898.2	Q58DX5	NADL2_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 2	126					proteolysis	integral to membrane	peptidase activity			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)		GCCACGTCTTAAAAATACTTT	0.388													12	116	---	---	---	---						-	174814914	A	-	174814914	7	5	81	1	0	1	0	1	0	0	0	0	10178	359	13	0	384	0	NAALADL2	3	174814914	Frame_Shift_Del	DEL	A	TCGA-DU-6392-01A-11D-1705-08	821687	174814914	23207516	3486	7102											
NAALADL2	254827	broad.mit.edu	37	3	175165105	175165105	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:175165105G>A	ENST00000454872.1	+	6	1307	c.1179G>A	c.(1177-1179)tcG>tcA	p.S393S	NAALADL2_ENST00000473253.1_3'UTR	NM_207015.2	NP_996898.2	Q58DX5	NADL2_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 2	393					proteolysis	integral to membrane	peptidase activity			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)		TGATCTCTTCGCCAAAAGCTA	0.378													9	7					0	0	1	0	0	A	175165105	G	A	175165105	2	1	81	1	0	0	0	0	0	0	0	1	10178	1074	38	1		1	NAALADL2	3	175165105	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	350191	175165105	22857325	3487	7103											
TBL1XR1	79718	broad.mit.edu	37	3	176752029	176752029	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:176752029C>A	ENST00000430069.1	-	13	1466	c.1207G>T	c.(1207-1209)Gga>Tga	p.G403*	TBL1XR1_ENST00000457928.2_Nonsense_Mutation_p.G403*			Q9BZK7	TBL1R_HUMAN	transducin (beta)-like 1 X-linked receptor 1	403					canonical Wnt receptor signaling pathway|cellular lipid metabolic process|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|proteasomal ubiquitin-dependent protein catabolic process|transcription, DNA-dependent	spindle microtubule|transcriptional repressor complex	beta-catenin binding|histone binding|protein N-terminus binding|transcription corepressor activity|transcription regulatory region DNA binding			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(7)|liver(1)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(143;1.44e-17)|Ovarian(172;0.00163)|Breast(254;0.214)	Acute lymphoblastic leukemia(1;0.00599)|all_hematologic(1;0.0632)|Prostate(884;0.215)	OV - Ovarian serous cystadenocarcinoma(80;9.83e-31)			GTCCCTGGTCCTGTTGGACTC	0.328													8	50					0.00307968	0.00324365	1	1	0	A	176752029	C	A	176752029	4	1	81	1	0	0	0	0	0	1	0	0	15700	690	24	4	353	4	TBL1XR1	3	176752029	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1586924	176752029	21270401	3488	7104											
KCNMB2	10242	broad.mit.edu	37	3	178543541	178543541	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:178543541G>A	ENST00000432997.1	+	3	574	c.222G>A	c.(220-222)atG>atA	p.M74I	KCNMB2_ENST00000452583.1_Missense_Mutation_p.M74I|RP11-385J1.2_ENST00000451742.1_RNA|KCNMB2_ENST00000420517.2_Missense_Mutation_p.M74I|KCNMB2_ENST00000358316.3_Missense_Mutation_p.M74I|RP11-385J1.2_ENST00000437488.1_RNA|RP11-385J1.2_ENST00000432385.1_RNA|RP11-385J1.2_ENST00000425330.1_RNA	NM_001278911.1	NP_001265840.1	Q9Y691	KCMB2_HUMAN	potassium large conductance calcium-activated channel, subfamily M, beta member 2	74					detection of calcium ion|platelet activation|regulation of action potential in neuron|regulation of vasoconstriction	voltage-gated potassium channel complex	calcium-activated potassium channel activity|ion channel inhibitor activity|potassium channel regulator activity			NS(2)|endometrium(4)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	12	all_cancers(143;5.38e-18)|Ovarian(172;0.00769)|Breast(254;0.125)		OV - Ovarian serous cystadenocarcinoma(80;1.32e-27)|GBM - Glioblastoma multiforme(14;0.0321)|BRCA - Breast invasive adenocarcinoma(182;0.0841)			GCTCATACATGCAGAGGTAAT	0.532													10	151					0	0	1	0	0	A	178543541	G	A	178543541	3	1	81	1	0	0	0	0	1	0	0	0	8119	1319	46	2	228	2	KCNMB2	3	178543541	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1791512	178543541	19478889	3489	7105											
ZMAT3	64393	broad.mit.edu	37	3	178745246	178745246	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:178745246T>C	ENST00000311417.2	-	5	1364	c.623A>G	c.(622-624)aAc>aGc	p.N208S	ZMAT3_ENST00000432729.1_Missense_Mutation_p.N208S	NM_022470.3	NP_071915.1	Q9HA38	ZMAT3_HUMAN	zinc finger, matrin-type 3	208					apoptosis|protein transport|regulation of growth|response to DNA damage stimulus|transmembrane transport	nucleolus	RNA binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(6)|lung(2)|ovary(2)|prostate(1)|skin(1)	14	all_cancers(143;3.31e-18)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;6.74e-27)|GBM - Glioblastoma multiforme(14;0.00448)|BRCA - Breast invasive adenocarcinoma(182;0.0527)			ATTTCTCCTGTTAGGCATCAT	0.403													21	37					0	0	1	0	0	C	178745246	T	C	178745246	3	2	81	1	0	0	0	0	1	0	0	0	17751	1725	60	3	254	3	ZMAT3	3	178745246	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	201705	178745246	19277184	3490	7106											
ZMAT3	64393	broad.mit.edu	37	3	178748770	178748770	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:178748770C>A	ENST00000311417.2	-	3	1029	c.288G>T	c.(286-288)aaG>aaT	p.K96N	ZMAT3_ENST00000432729.1_Missense_Mutation_p.K96N	NM_022470.3	NP_071915.1	Q9HA38	ZMAT3_HUMAN	zinc finger, matrin-type 3	96					apoptosis|protein transport|regulation of growth|response to DNA damage stimulus|transmembrane transport	nucleolus	RNA binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(6)|lung(2)|ovary(2)|prostate(1)|skin(1)	14	all_cancers(143;3.31e-18)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;6.74e-27)|GBM - Glioblastoma multiforme(14;0.00448)|BRCA - Breast invasive adenocarcinoma(182;0.0527)			TTCGGAGTTTCTTACCATGAT	0.438													22	36					9.04412e-07	1.04362e-06	1	1	0	A	178748770	C	A	178748770	3	1	81	1	0	0	0	0	1	0	0	0	17751	912	32	4	597	4	ZMAT3	3	178748770	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3524	178748770	19273660	3491	7107											
PIK3CA	5290	broad.mit.edu	37	3	178917576	178917576	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:178917576G>A	ENST00000263967.3	+	3	608	c.451G>A	c.(451-453)Gtg>Atg	p.V151M		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	151					epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity			NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TAAAGAAGCTGTGGATCTTAG	0.383		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			10	115					0	0	1	0	0	A	178917576	G	A	178917576	3	1	81	1	0	0	0	0	1	0	0	0	11961	1377	48	2	457	2	PIK3CA	3	178917576	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	168806	178917576	19104854	3492	7108											
KCNMB3	27094	broad.mit.edu	37	3	178960736	178960736	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:178960736G>A	ENST00000392685.2	-	3	1423	c.784C>T	c.(784-786)Ctg>Ttg	p.L262L	KCNMB3_ENST00000486944.1_Intron|KCNMB3_ENST00000314235.5_Silent_p.L266L|KCNMB3_ENST00000349697.2_Silent_p.L264L|KCNMB3_ENST00000497599.1_Intron|KCNMB3_ENST00000485523.1_Silent_p.L244L	NM_171830.1	NP_741981.1	Q9NPA1	KCMB3_HUMAN	potassium large conductance calcium-activated channel, subfamily M beta member 3	266					detection of calcium ion|platelet activation|regulation of action potential in neuron	voltage-gated potassium channel complex	calcium-activated potassium channel activity|potassium channel regulator activity			NS(1)|large_intestine(1)|lung(2)|stomach(1)	5	all_cancers(143;5.6e-17)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;2.41e-27)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.03)			ATAATGCACAGTTTGAACTGA	0.413													46	65					0	0	1	0	0	A	178960736	G	A	178960736	2	1	81	1	0	0	0	0	0	0	0	1	8120	1020	36	2		2	KCNMB3	3	178960736	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	43160	178960736	19061694	3493	7109											
MFN1	55669	broad.mit.edu	37	3	179082095	179082095	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:179082095G>T	ENST00000471841.1	+	6	673	c.547G>T	c.(547-549)Gat>Tat	p.D183Y	MFN1_ENST00000280653.7_Missense_Mutation_p.D183Y|MFN1_ENST00000263969.5_Missense_Mutation_p.D183Y	NM_033540.2	NP_284941	Q8IWA4	MFN1_HUMAN	mitofusin 1	183					mitochondrial fusion	integral to membrane|mitochondrial outer membrane	GTP binding|GTPase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(3)|prostate(1)|urinary_tract(1)	31	all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			TCCAGGCACAGATGTCACTAC	0.323													16	42					0.00400662	0.00421823	1	1	0	T	179082095	G	T	179082095	3	4	81	1	0	0	0	0	1	0	0	0	9573	942	33	4	565	4	MFN1	3	179082095	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	121359	179082095	18940335	3494	7110											
PEX5L	51555	broad.mit.edu	37	3	179519707	179519707	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:179519707G>A	ENST00000467460.1	-	15	2120	c.1790C>T	c.(1789-1791)gCg>gTg	p.A597V	PEX5L_ENST00000392649.3_Missense_Mutation_p.A489V|PEX5L_ENST00000467440.2_5'UTR|PEX5L_ENST00000472994.1_Missense_Mutation_p.A538V|PEX5L_ENST00000263962.8_Missense_Mutation_p.A595V|PEX5L_ENST00000464614.1_Missense_Mutation_p.A489V|PEX5L_ENST00000465751.1_Missense_Mutation_p.A573V|PEX5L_ENST00000476138.1_Missense_Mutation_p.A554V|PEX5L_ENST00000485199.1_Missense_Mutation_p.A562V|PEX5L_ENST00000468741.1_Missense_Mutation_p.A405V	NM_001256751.1|NM_016559.2	NP_001243680.1|NP_057643.1	Q8IYB4	PEX5R_HUMAN	peroxisomal biogenesis factor 5-like	597					protein import into peroxisome matrix|regulation of cAMP-mediated signaling	cytosol|peroxisomal membrane	peroxisome matrix targeting signal-1 binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)			CAGAGAGAGCGCAATTCTGAG	0.473													67	151					0	0	1	0	0	A	179519707	G	A	179519707	3	1	81	1	0	0	0	0	1	0	0	0	11797	1087	38	1	94	1	PEX5L	3	179519707	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	437612	179519707	18502723	3495	7111											
PEX5L	51555	broad.mit.edu	37	3	179576924	179576924	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:179576924G>A	ENST00000467460.1	-	8	1078	c.748C>T	c.(748-750)Cgc>Tgc	p.R250C	PEX5L_ENST00000392649.3_Missense_Mutation_p.R142C|PEX5L_ENST00000467440.2_5'UTR|PEX5L_ENST00000472994.1_Missense_Mutation_p.R191C|PEX5L_ENST00000263962.8_Missense_Mutation_p.R248C|PEX5L_ENST00000465751.1_Missense_Mutation_p.R226C|PEX5L_ENST00000464614.1_Missense_Mutation_p.R142C|PEX5L_ENST00000476138.1_Missense_Mutation_p.R207C|PEX5L_ENST00000485199.1_Missense_Mutation_p.R215C|PEX5L_ENST00000468741.1_Missense_Mutation_p.R58C	NM_001256751.1|NM_016559.2	NP_001243680.1|NP_057643.1	Q8IYB4	PEX5R_HUMAN	peroxisomal biogenesis factor 5-like	250					protein import into peroxisome matrix|regulation of cAMP-mediated signaling	cytosol|peroxisomal membrane	peroxisome matrix targeting signal-1 binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)			CTTCCCCAGCGATGTTCTTTG	0.358													20	37					0	0	1	0	0	A	179576924	G	A	179576924	3	1	81	1	0	0	0	0	1	0	0	0	11797	1058	37	1	1164	1	PEX5L	3	179576924	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	57217	179576924	18445506	3496	7112											
TTC14	151613	broad.mit.edu	37	3	180328127	180328127	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:180328127C>T	ENST00000296015.4	+	12	2242	c.2110C>T	c.(2110-2112)Cgt>Tgt	p.R704C	TTC14_ENST00000382584.4_Intron|TTC14_ENST00000412756.2_3'UTR	NM_133462.3	NP_597719.1	Q96N46	TTC14_HUMAN	tetratricopeptide repeat domain 14	704							RNA binding			endometrium(3)|kidney(5)|large_intestine(9)|lung(24)|ovary(2)|pancreas(1)|skin(1)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			GCAAAGATACCGTTTAAATAC	0.388													5	71					0	0	1	0	0	T	180328127	C	T	180328127	3	4	81	1	0	0	0	0	1	0	0	0	16743	652	23	1	2186	1	TTC14	3	180328127	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	751203	180328127	17694303	3497	7113											
CCDC39	339829	broad.mit.edu	37	3	180334613	180334613	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:180334613C>T	ENST00000273654.4	-	22	3118		c.e22+1		TTC14_ENST00000382584.4_Intron|CCDC39_ENST00000442201.2_Splice_Site			Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39						axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium axoneme|cytoplasm|cytoskeleton				NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			GATATCGATACCTGTTTGGTC	0.308													6	12					0	0	1	0	0	T	180334613	C	T	180334613	5	4	81	1	0	0	0	0	0	0	1	0	2830	521	18	2	434	2	CCDC39	3	180334613	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	6486	180334613	17687817	3498	7114											
CCDC39	339829	broad.mit.edu	37	3	180337714	180337714	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:180337714C>T	ENST00000442201.2	-	15	2162	c.2043G>A	c.(2041-2043)ttG>ttA	p.L681L	CCDC39_ENST00000273654.4_Intron	NM_181426.1	NP_852091.1	Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39	681					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium axoneme|cytoplasm|cytoskeleton				NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			TCTTGGCATCCAAACAGTCAC	0.353													7	15					0	0	1	0	0	T	180337714	C	T	180337714	2	4	81	1	0	0	0	0	0	0	0	1	2830	593	21	2		2	CCDC39	3	180337714	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3101	180337714	17684716	3499	7115											
CCDC39	339829	broad.mit.edu	37	3	180377294	180377294	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:180377294C>T	ENST00000273654.4	-	12	1555	c.936G>A	c.(934-936)gaG>gaA	p.E312E	CCDC39_ENST00000442201.2_Silent_p.E228E			Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39	228					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium axoneme|cytoplasm|cytoskeleton				NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			CTATTGTGTTCTCCCATTGTT	0.368													34	52					0	0	1	0	0	T	180377294	C	T	180377294	2	4	81	1	0	0	0	0	0	0	0	1	2830	912	32	2		2	CCDC39	3	180377294	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	39580	180377294	17645136	3500	7116											
FXR1	8087	broad.mit.edu	37	3	180652995	180652995	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:180652995A>G	ENST00000357559.4	+	3	558	c.174A>G	c.(172-174)gaA>gaG	p.E58E	FXR1_ENST00000480918.1_Silent_p.E45E|FXR1_ENST00000445140.2_Silent_p.E58E|FXR1_ENST00000468861.1_5'UTR|FXR1_ENST00000305586.7_5'UTR|FXR1_ENST00000491062.1_Intron	NM_001013438.2|NM_005087.3	NP_001013456.1|NP_005078.2	P51114	FXR1_HUMAN	fragile X mental retardation, autosomal homolog 1	58					apoptosis|cell differentiation|muscle organ development	nucleolus|polysome				breast(3)|endometrium(4)|large_intestine(5)|lung(12)|skin(2)	26	all_cancers(143;6.07e-14)|Ovarian(172;0.0212)		Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22)			TAAAAAAAGAAATTAGTGAAG	0.303													5	36					0	0	1	0	0	G	180652995	A	G	180652995	2	3	81	1	0	0	0	0	0	0	0	1	6150	11	1	3		3	FXR1	3	180652995	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	275701	180652995	17369435	3501	7117											
FXR1	8087	broad.mit.edu	37	3	180685891	180685891	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:180685891C>T	ENST00000357559.4	+	14	1635	c.1251C>T	c.(1249-1251)gaC>gaT	p.D417D	FXR1_ENST00000480918.1_Silent_p.D404D|FXR1_ENST00000445140.2_Silent_p.D417D|FXR1_ENST00000468861.1_Silent_p.D332D|FXR1_ENST00000305586.7_Silent_p.D332D|FXR1_ENST00000491062.1_Silent_p.D368D	NM_001013438.2|NM_005087.3	NP_001013456.1|NP_005078.2	P51114	FXR1_HUMAN	fragile X mental retardation, autosomal homolog 1	417					apoptosis|cell differentiation|muscle organ development	nucleolus|polysome				breast(3)|endometrium(4)|large_intestine(5)|lung(12)|skin(2)	26	all_cancers(143;6.07e-14)|Ovarian(172;0.0212)		Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22)			AGCGTAAAGACGAGCTGAGTG	0.463													31	40					0	0	1	0	0	T	180685891	C	T	180685891	2	4	81	1	0	0	0	0	0	0	0	1	6150	535	19	1		1	FXR1	3	180685891	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	32896	180685891	17336539	3502	7118											
DNAJC19	131118	broad.mit.edu	37	3	180705837	180705837	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:180705837G>A	ENST00000382564.2	-	3	273	c.103C>T	c.(103-105)Caa>Taa	p.Q35*	DNAJC19_ENST00000479269.1_Nonsense_Mutation_p.Q10*|DNAJC19_ENST00000486355.1_Nonsense_Mutation_p.Q35*|DNAJC19_ENST00000491873.1_Nonsense_Mutation_p.Q10*	NM_145261.3	NP_660304.1	Q96DA6	TIM14_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 19	35					genitalia development|protein folding|protein targeting to mitochondrion|transmembrane transport|visual perception	integral to membrane|mitochondrial inner membrane	heat shock protein binding			large_intestine(2)|lung(1)	3	all_cancers(143;3.12e-14)|Ovarian(172;0.0212)		Epithelial(37;3.05e-36)|OV - Ovarian serous cystadenocarcinoma(80;1.55e-22)			TGAAAAACTTGTTTTACTTGA	0.378													19	40					0	0	1	0	0	A	180705837	G	A	180705837	4	1	81	1	0	0	0	0	0	1	0	0	4665	1386	48	2	263	2	DNAJC19	3	180705837	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	19946	180705837	17316593	3503	7119											
SOX2	6657	broad.mit.edu	37	3	181430973	181430973	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:181430973C>T	ENST00000325404.1	+	1	1252	c.825C>T	c.(823-825)agC>agT	p.S275S	SOX2_ENST00000431565.2_Silent_p.S275S	NM_003106.3	NP_003097.1	P48431	SOX2_HUMAN	SRY (sex determining region Y)-box 2	275					cell cycle arrest|chromatin organization|eye development|glial cell fate commitment|inner ear development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell proliferation|negative regulation of neuron differentiation|osteoblast differentiation|pituitary gland development|positive regulation of MAPKKK cascade|positive regulation of transcription from RNA polymerase II promoter|regulation of caspase activity|response to growth factor stimulus|response to wounding|somatic stem cell maintenance	cytosol|transcription factor complex	miRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(1)|skin(1)	10	all_cancers(143;1.22e-16)|Ovarian(172;0.0283)		all cancers(12;1.82e-48)|Epithelial(37;9.85e-40)|OV - Ovarian serous cystadenocarcinoma(80;7.37e-23)|Lung(8;2.01e-21)|GBM - Glioblastoma multiforme(1;2.13e-08)			ACATGATCAGCATGTATCTCC	0.692			A		"NSCLC, oesophageal squamous carcinoma"		MICROPHTHALMIA AND ESOPHAGEAL ATRESIA SYNDROME						6	37					0	0	1	0	0	T	181430973	C	T	181430973	2	4	81	1	0	0	0	0	0	0	0	1	15003	709	25	2		2	SOX2	3	181430973	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	725136	181430973	16591457	3504	7120											
ATP11B	23200	broad.mit.edu	37	3	182547540	182547540	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:182547540G>T	ENST00000323116.5	+	4	575	c.315G>T	c.(313-315)caG>caT	p.Q105H	ATP11B_ENST00000493826.1_Splice_Site_p.Q105H	NM_014616.2	NP_055431.1	Q9Y2G3	AT11B_HUMAN	ATPase, class VI, type 11B	105					aminophospholipid transport|ATP biosynthetic process	integral to membrane|nuclear inner membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	41	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20)			CCATAAAGCAGGTATGAAATA	0.299													5	10					5.9392e-07	6.87481e-07	1	1	0	T	182547540	G	T	182547540	5	4	81	1	0	0	0	0	0	0	1	0	1119	1014	35	4	329	4	ATP11B	3	182547540	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1116567	182547540	15474890	3505	7121											
ATP11B	23200	broad.mit.edu	37	3	182585172	182585172	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:182585172T>C	ENST00000323116.5	+	15	1888	c.1628T>C	c.(1627-1629)aTt>aCt	p.I543T		NM_014616.2	NP_055431.1	Q9Y2G3	AT11B_HUMAN	ATPase, class VI, type 11B	543					aminophospholipid transport|ATP biosynthetic process	integral to membrane|nuclear inner membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	41	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20)			AGGATTGGTATTGTGTTTATT	0.289													7	54					0	0	1	0	0	C	182585172	T	C	182585172	3	2	81	1	0	0	0	0	1	0	0	0	1119	1493	52	3	1686	3	ATP11B	3	182585172	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	37632	182585172	15437258	3506	7122											
ATP11B	23200	broad.mit.edu	37	3	182635856	182635856	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:182635856C>A	ENST00000323116.5	+	30	3758	c.3498C>A	c.(3496-3498)atC>atA	p.I1166I		NM_014616.2	NP_055431.1	Q9Y2G3	AT11B_HUMAN	ATPase, class VI, type 11B	1166					aminophospholipid transport|ATP biosynthetic process	integral to membrane|nuclear inner membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	41	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20)			ACAGGAGCATCTTGACTCTCT	0.428													5	93					0.00116845	0.00124301	1	1	0	A	182635856	C	A	182635856	2	1	81	1	0	0	0	0	0	0	0	1	1119	903	32	4		4	ATP11B	3	182635856	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	50684	182635856	15386574	3507	7123											
DCUN1D1	54165	broad.mit.edu	37	3	182683487	182683487	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:182683487G>A	ENST00000292782.4	-	2	211	c.58C>T	c.(58-60)Caa>Taa	p.Q20*	DCUN1D1_ENST00000469954.1_Nonsense_Mutation_p.Q5*	NM_020640.2	NP_065691.2	Q96GG9	DCNL1_HUMAN	DCN1, defective in cullin neddylation 1, domain containing 1	20	UBA-like.					ubiquitin ligase complex	protein binding			endometrium(2)|large_intestine(4)|lung(8)|ovary(1)	15	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;2.54e-44)|Epithelial(37;4.71e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)			TCACTAGATTGTGTGAAGATC	0.313													35	56					0	0	1	0	0	A	182683487	G	A	182683487	4	1	81	1	0	0	0	0	0	1	0	0	4336	1386	48	2	745	2	DCUN1D1	3	182683487	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	47631	182683487	15338943	3508	7124											
LAMP3	27074	broad.mit.edu	37	3	182853553	182853553	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:182853553C>T	ENST00000265598.3	-	5	1324	c.1069G>A	c.(1069-1071)Gat>Aat	p.D357N	LAMP3_ENST00000466939.1_Missense_Mutation_p.D333N	NM_014398.3	NP_055213.2	Q9UQV4	LAMP3_HUMAN	lysosomal-associated membrane protein 3	357					cell proliferation	integral to membrane|lysosomal membrane		p.D357N(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(2)	28	all_cancers(143;9.14e-14)|Ovarian(172;0.0355)		all cancers(12;2.91e-44)|Epithelial(37;5.52e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;4.16e-21)			AGTTGGACATCGGTTGTTTTC	0.488													107	140					0	0	1	0	0	T	182853553	C	T	182853553	3	4	81	1	0	0	0	0	1	0	0	0	8658	884	31	1	189	1	LAMP3	3	182853553	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	170066	182853553	15168877	3509	7125											
LAMP3	27074	broad.mit.edu	37	3	182871577	182871577	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:182871577G>A	ENST00000265598.3	-	2	907	c.652C>T	c.(652-654)Cct>Tct	p.P218S	LAMP3_ENST00000466939.1_Missense_Mutation_p.P194S	NM_014398.3	NP_055213.2	Q9UQV4	LAMP3_HUMAN	lysosomal-associated membrane protein 3	218					cell proliferation	integral to membrane|lysosomal membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(2)	28	all_cancers(143;9.14e-14)|Ovarian(172;0.0355)		all cancers(12;2.91e-44)|Epithelial(37;5.52e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;4.16e-21)			GATGGCTGAGGTGCAAGGGTG	0.542													28	36					0	0	1	0	0	A	182871577	G	A	182871577	3	1	81	1	0	0	0	0	1	0	0	0	8658	1261	44	2	618	2	LAMP3	3	182871577	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	18024	182871577	15150853	3510	7126											
MCF2L2	23101	broad.mit.edu	37	3	182910809	182910809	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:182910809G>T	ENST00000328913.3	-	27	3291	c.2994C>A	c.(2992-2994)gcC>gcA	p.A998A	MCF2L2_ENST00000468976.1_5'UTR|MCF2L2_ENST00000473233.1_Silent_p.A998A	NM_015078.2	NP_055893	Q86YR7	MF2L2_HUMAN	MCF.2 cell line derived transforming sequence-like 2	998					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			CTGTGCTGGAGGCCGGGTCTT	0.493													10	89					0.00010058	0.000110448	1	1	0	T	182910809	G	T	182910809	2	4	81	1	0	0	0	0	0	0	0	1	9430	987	35	4		4	MCF2L2	3	182910809	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	39232	182910809	15111621	3511	7127											
B3GNT5	84002	broad.mit.edu	37	3	182987848	182987848	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:182987848G>A	ENST00000326505.3	+	2	792	c.262G>A	c.(262-264)Gtc>Atc	p.V88I	B3GNT5_ENST00000465010.1_Missense_Mutation_p.V88I|MCF2L2_ENST00000473233.1_Intron|B3GNT5_ENST00000460419.1_Missense_Mutation_p.V88I|MCF2L2_ENST00000447025.2_Intron|MCF2L2_ENST00000328913.3_Intron	NM_032047.4	NP_114436.1	Q9BYG0	B3GN5_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 5	88					central nervous system development|glycolipid biosynthetic process|protein glycosylation	Golgi membrane|integral to membrane	beta-galactosyl-N-acetylglucosaminylgalactosylglucosyl-ceramide beta-1,3-acetylglucosaminyltransferase activity|galactosyltransferase activity			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	8	all_cancers(143;8.52e-13)|Ovarian(172;0.0355)		all cancers(12;4.52e-44)|Epithelial(37;8.82e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			AGCTCAAGACGTCCTCCTTTT	0.443													32	58					0	0	1	0	0	A	182987848	G	A	182987848	3	1	81	1	0	0	0	0	1	0	0	0	1258	1145	40	1	264	1	B3GNT5	3	182987848	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	77039	182987848	15034582	3512	7128											
B3GNT5	84002	broad.mit.edu	37	3	182988710	182988710	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:182988710C>A	ENST00000326505.3	+	2	1654	c.1124C>A	c.(1123-1125)gCt>gAt	p.A375D	B3GNT5_ENST00000465010.1_Missense_Mutation_p.A375D|MCF2L2_ENST00000473233.1_Intron|B3GNT5_ENST00000460419.1_Missense_Mutation_p.A375D|MCF2L2_ENST00000447025.2_Intron|MCF2L2_ENST00000328913.3_Intron	NM_032047.4	NP_114436.1	Q9BYG0	B3GN5_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 5	375					central nervous system development|glycolipid biosynthetic process|protein glycosylation	Golgi membrane|integral to membrane	beta-galactosyl-N-acetylglucosaminylgalactosylglucosyl-ceramide beta-1,3-acetylglucosaminyltransferase activity|galactosyltransferase activity			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	8	all_cancers(143;8.52e-13)|Ovarian(172;0.0355)		all cancers(12;4.52e-44)|Epithelial(37;8.82e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			CCTTGTAGGGCTGCGTTTATC	0.333													12	63					9.31168e-06	1.05369e-05	1	1	0	A	182988710	C	A	182988710	3	1	81	1	0	0	0	0	1	0	0	0	1258	797	28	4	1126	4	B3GNT5	3	182988710	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	862	182988710	15033720	3513	7129											
MCF2L2	23101	broad.mit.edu	37	3	183013151	183013151	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:183013151C>T	ENST00000328913.3	-	13	1909	c.1612G>A	c.(1612-1614)Gcc>Acc	p.A538T	B3GNT5_ENST00000462559.1_Intron|MCF2L2_ENST00000414362.2_Missense_Mutation_p.A538T|MCF2L2_ENST00000473233.1_Missense_Mutation_p.A538T|MCF2L2_ENST00000447025.2_Missense_Mutation_p.A538T	NM_015078.2	NP_055893	Q86YR7	MF2L2_HUMAN	MCF.2 cell line derived transforming sequence-like 2	538					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			GGATGTGGGGCCACAGGTTGC	0.488													27	46					0	0	1	0	0	T	183013151	C	T	183013151	3	4	81	1	0	0	0	0	1	0	0	0	9430	739	26	2	1804	2	MCF2L2	3	183013151	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	24441	183013151	15009279	3514	7130											
KLHL6	89857	broad.mit.edu	37	3	183209811	183209811	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:183209811G>A	ENST00000341319.3	-	7	1805	c.1770C>T	c.(1768-1770)tgC>tgT	p.C590C		NM_130446.2	NP_569713.2	Q8WZ60	KLHL6_HUMAN	kelch-like family member 6	590										breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44	all_cancers(143;9.2e-12)|Ovarian(172;0.0172)		all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22)			GGGGCAGGACGCACTCCTCTG	0.652													30	47					0	0	1	0	0	A	183209811	G	A	183209811	2	1	81	1	0	0	0	0	0	0	0	1	8436	1079	38	1		1	KLHL6	3	183209811	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	196660	183209811	14812619	3515	7131											
KLHL24	54800	broad.mit.edu	37	3	183368322	183368322	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:183368322C>T	ENST00000454652.2	+	4	564	c.178C>T	c.(178-180)Cgt>Tgt	p.R60C	KLHL24_ENST00000242810.6_Missense_Mutation_p.R60C|KLHL24_ENST00000476808.1_Missense_Mutation_p.R60C	NM_017644.3	NP_060114.2	Q6TFL4	KLH24_HUMAN	kelch-like family member 24							axon|cytoplasm|perikaryon		p.R60C(1)		NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;2.88e-10)|Ovarian(172;0.0303)		all cancers(12;1.43e-42)|Epithelial(37;1.73e-36)|OV - Ovarian serous cystadenocarcinoma(80;8.75e-22)			TAATGAATTTCGTGATAGCCG	0.413													47	83					0	0	1	0	0	T	183368322	C	T	183368322	3	4	81	1	0	0	0	0	1	0	0	0	8422	884	31	1	180	1	KLHL24	3	183368322	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	158511	183368322	14654108	3516	7132											
KLHL24	54800	broad.mit.edu	37	3	183381373	183381373	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:183381373G>T	ENST00000454652.2	+	5	1434	c.1048G>T	c.(1048-1050)Gaa>Taa	p.E350*	KLHL24_ENST00000242810.6_Nonsense_Mutation_p.E350*|KLHL24_ENST00000476808.1_Nonsense_Mutation_p.E350*	NM_017644.3	NP_060114.2	Q6TFL4	KLH24_HUMAN	kelch-like family member 24							axon|cytoplasm|perikaryon				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;2.88e-10)|Ovarian(172;0.0303)		all cancers(12;1.43e-42)|Epithelial(37;1.73e-36)|OV - Ovarian serous cystadenocarcinoma(80;8.75e-22)			TAAGCTTCCAGAATTTACCAA	0.393													12	83					1.5842e-08	1.88841e-08	1	1	0	T	183381373	G	T	183381373	4	4	81	1	0	0	0	0	0	1	0	0	8422	943	33	4	1054	4	KLHL24	3	183381373	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	13051	183381373	14641057	3517	7133											
PARL	55486	broad.mit.edu	37	3	183585821	183585821	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:183585821G>A	ENST00000317096.4	-	2	213	c.153C>T	c.(151-153)tgC>tgT	p.C51C	PARL_ENST00000435888.1_Silent_p.C51C|PARL_ENST00000311101.5_Silent_p.C51C	NM_018622.5	NP_061092.3	Q9H300	PARL_HUMAN	presenilin associated, rhomboid-like	51					proteolysis	integral to membrane|mitochondrial inner membrane|nucleus	serine-type endopeptidase activity			endometrium(2)|large_intestine(3)|liver(1)|lung(6)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	17	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.21e-41)|Epithelial(37;1.34e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			TTCTGAATCCGCATTTTTGTT	0.423													30	39					0	0	1	0	0	A	183585821	G	A	183585821	2	1	81	1	0	0	0	0	0	0	0	1	11498	1079	38	1		1	PARL	3	183585821	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	204448	183585821	14436609	3518	7134											
ABCC5	10057	broad.mit.edu	37	3	183643470	183643470	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:183643470G>A	ENST00000334444.6	-	29	4325	c.4085C>T	c.(4084-4086)aCa>aTa	p.T1362I	ABCC5_ENST00000265586.6_Missense_Mutation_p.T1319I	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	1362	ABC transporter 2.					integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			GTCTGTCTCTGTGTCCATGGC	0.458													22	47					0	0	1	0	0	A	183643470	G	A	183643470	3	1	81	1	0	0	0	0	1	0	0	0	56	1377	48	2	236	2	ABCC5	3	183643470	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	57649	183643470	14378960	3519	7135											
ABCC5	10057	broad.mit.edu	37	3	183660584	183660584	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:183660584C>T	ENST00000334444.6	-	25	3865	c.3625G>A	c.(3625-3627)Gtc>Atc	p.V1209I	ABCC5_ENST00000265586.6_Missense_Mutation_p.V1166I	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	1209	ABC transporter 2.					integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			TTCTTTAGGACGAGAGGGAGG	0.502													23	39					0	0	1	0	0	T	183660584	C	T	183660584	3	4	81	1	0	0	0	0	1	0	0	0	56	536	19	1	712	1	ABCC5	3	183660584	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	17114	183660584	14361846	3520	7136											
ABCC5	10057	broad.mit.edu	37	3	183677558	183677558	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:183677558T>C	ENST00000334444.6	-	17	2685	c.2445A>G	c.(2443-2445)ggA>ggG	p.G815G	ABCC5_ENST00000265586.6_Silent_p.G815G	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	815						integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			TCTTTACTGATCCTGTTTTAG	0.328													36	50					0	0	1	0	0	C	183677558	T	C	183677558	2	2	81	1	0	0	0	0	0	0	0	1	56	1422	50	3		3	ABCC5	3	183677558	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	16974	183677558	14344872	3521	7137											
ABCC5	10057	broad.mit.edu	37	3	183683285	183683285	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:183683285G>A	ENST00000334444.6	-	13	2078	c.1838C>T	c.(1837-1839)aCg>aTg	p.T613M	ABCC5_ENST00000265586.6_Missense_Mutation_p.T613M	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	613	ABC transporter 1.					integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			CTCTAGAAGCGTCATCTAGGG	0.512													12	42					0	0	1	0	0	A	183683285	G	A	183683285	3	1	81	1	0	0	0	0	1	0	0	0	56	1145	40	1	2547	1	ABCC5	3	183683285	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	5727	183683285	14339145	3522	7138											
HTR3C	170572	broad.mit.edu	37	3	183774017	183774017	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:183774017A>T	ENST00000318351.1	+	4	366	c.332A>T	c.(331-333)aAt>aTt	p.N111I		NM_130770.2	NP_570126.2	Q8WXA8	5HT3C_HUMAN	5-hydroxytryptamine (serotonin) receptor 3C, ionotropic	111						integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(2)	32	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			GTTGGCATCAATAAACTCACA	0.502													8	84					0	0	1	0	0	T	183774017	A	T	183774017	3	4	81	1	0	0	0	0	1	0	0	0	7490	101	4	4	346	4	HTR3C	3	183774017	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	90732	183774017	14248413	3523	7139											
HTR3C	170572	broad.mit.edu	37	3	183774687	183774687	+	Silent	SNP	C	C	T	rs140566773	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:183774687C>T	ENST00000318351.1	+	5	448	c.414C>T	c.(412-414)tcC>tcT	p.S138S		NM_130770.2	NP_570126.2	Q8WXA8	5HT3C_HUMAN	5-hydroxytryptamine (serotonin) receptor 3C, ionotropic	138						integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(2)	32	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			AGACGCCTTCCGGTCTCACTG	0.507													7	112					0	0	1	0	0	T	183774687	C	T	183774687	2	4	81	1	0	0	0	0	0	0	0	1	7490	639	23	1		1	HTR3C	3	183774687	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	670	183774687	14247743	3524	7140											
EIF2B5	8893	broad.mit.edu	37	3	183855492	183855492	+	Silent	SNP	C	C	T	rs4496517		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:183855492C>T	ENST00000273783.3	+	3	527	c.405C>T	c.(403-405)ctC>ctT	p.L135L	EIF2B5_ENST00000498831.1_3'UTR|EIF2B5_ENST00000444495.1_Silent_p.L135L	NM_003907.2	NP_003898.2	Q13144	EI2BE_HUMAN	eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa	135					astrocyte development|myelination|negative regulation of translational initiation in response to stress|oligodendrocyte development|ovarian follicle development|positive regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus|RNA metabolic process	cytosol|eukaryotic translation initiation factor 2B complex|nucleus	guanyl-nucleotide exchange factor activity|transferase activity|translation initiation factor activity|translation initiation factor binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(9)|ovary(5)|urinary_tract(1)	27	all_cancers(143;7.59e-11)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			GAGATGTCCTCCGTGATGTTG	0.483													25	37					0	0	1	0	0	T	183855492	C	T	183855492	2	4	81	1	0	0	0	0	0	0	0	1	5030	842	30	2		2	EIF2B5	3	183855492	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	80805	183855492	14166938	3525	7141											
DVL3	1857	broad.mit.edu	37	3	183882303	183882303	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:183882303A>G	ENST00000313143.3	+	4	625	c.377A>G	c.(376-378)cAg>cGg	p.Q126R	DVL3_ENST00000431765.1_Missense_Mutation_p.Q126R|DVL3_ENST00000462665.1_3'UTR|EIF2B5_ENST00000444495.1_Intron	NM_004423.3	NP_004414.3	Q92997	DVL3_HUMAN	dishevelled segment polarity protein 3	126					canonical Wnt receptor signaling pathway|intracellular signal transduction|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent	cytoplasm	beta-catenin binding|frizzled binding|protease binding|protein heterodimerization activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(6)|liver(1)|lung(13)|ovary(1)|prostate(1)	35	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.08e-34)|OV - Ovarian serous cystadenocarcinoma(80;1.31e-22)			GGGGGCAGCCAGGAGAACCTG	0.647													4	42					0	0	1	0	0	G	183882303	A	G	183882303	3	3	81	1	0	0	0	0	1	0	0	0	4863	188	7	3	391	3	DVL3	3	183882303	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	26811	183882303	14140127	3526	7142											
ABCF3	55324	broad.mit.edu	37	3	183905481	183905481	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:183905481C>T	ENST00000429586.2	+	5	563	c.378C>T	c.(376-378)gcC>gcT	p.A126A	ABCF3_ENST00000292808.5_Silent_p.A120A|EIF2B5_ENST00000444495.1_Intron	NM_018358.2	NP_060828.2	Q9NUQ8	ABCF3_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 3	126							ATP binding|ATPase activity			breast(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(20)|ovary(3)|prostate(5)|upper_aerodigestive_tract(1)	39	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.35e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TAGAGAAGGCCGAGGCTCGAC	0.527													16	20					0	0	1	0	0	T	183905481	C	T	183905481	2	4	81	1	0	0	0	0	0	0	0	1	67	639	23	1		1	ABCF3	3	183905481	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	23178	183905481	14116949	3527	7143											
ALG3	10195	broad.mit.edu	37	3	183960347	183960347	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:183960347C>T	ENST00000455059.1	-	9	1606	c.1152G>A	c.(1150-1152)ccG>ccA	p.P384P	ALG3_ENST00000418734.2_Silent_p.P368P|ALG3_ENST00000445626.2_Silent_p.P376P|EIF2B5_ENST00000444495.1_Intron|ALG3_ENST00000397676.3_Silent_p.P424P			Q92685	ALG3_HUMAN	ALG3, alpha-1,3- mannosyltransferase	424					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	alpha-1,3-mannosyltransferase activity	p.P424P(1)		kidney(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	9	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GGAAAGGCTGCGGGCCCAGCC	0.592													8	13					0	0	1	0	0	T	183960347	C	T	183960347	2	4	81	1	0	0	0	0	0	0	0	1	516	755	27	1		1	ALG3	3	183960347	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	54866	183960347	14062083	3528	7144											
ALG3	10195	broad.mit.edu	37	3	183961690	183961690	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:183961690A>G	ENST00000455059.1	-	6	1155	c.701T>C	c.(700-702)gTg>gCg	p.V234A	ALG3_ENST00000418734.2_Missense_Mutation_p.V218A|ALG3_ENST00000445626.2_Missense_Mutation_p.V226A|EIF2B5_ENST00000444495.1_Intron|ALG3_ENST00000397676.3_Missense_Mutation_p.V274A|ALG3_ENST00000463495.1_5'UTR			Q92685	ALG3_HUMAN	ALG3, alpha-1,3- mannosyltransferase	274					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	alpha-1,3-mannosyltransferase activity			kidney(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	9	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GCGCCAGTTCACTGTCCAGTG	0.637													7	30					0	0	1	0	0	G	183961690	A	G	183961690	3	3	81	1	0	0	0	0	1	0	0	0	516	159	6	3	511	3	ALG3	3	183961690	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	1343	183961690	14060740	3529	7145											
ECE2	9718	broad.mit.edu	37	3	184007445	184007445	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:184007445A>C	ENST00000402825.3	+	13	1844	c.1844A>C	c.(1843-1845)gAt>gCt	p.D615A	ECE2_ENST00000404464.3_Missense_Mutation_p.D497A|ECE2_ENST00000359140.4_Missense_Mutation_p.D468A|EIF2B5_ENST00000444495.1_Intron|ECE2_ENST00000357474.5_Missense_Mutation_p.D543A	NM_014693.3	NP_055508.3	O60344	ECE2_HUMAN	endothelin converting enzyme 2	615	Endothelin-converting enzyme 2 region.				brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing	cytoplasmic vesicle membrane|Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity|methyltransferase activity			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GCCATCTATGATATGATTGGT	0.493											OREG0015946	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	59					0	0	1	0	0	C	184007445	A	C	184007445	3	2	81	1	0	0	0	0	1	0	0	0	4916	333	12	4	2458	4	ECE2	3	184007445	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	45755	184007445	14014985	3530	7146											
PSMD2	5708	broad.mit.edu	37	3	184026613	184026613	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:184026613C>A	ENST00000310118.4	+	21	3220	c.2662C>A	c.(2662-2664)Ctt>Att	p.L888I	PSMD2_ENST00000439383.1_Missense_Mutation_p.L758I|EIF2B5_ENST00000444495.1_Intron|PSMD2_ENST00000435761.1_Missense_Mutation_p.L729I	NM_002808.3	NP_002799.3	Q13200	PSMD2_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 2	888					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	enzyme regulator activity|protein binding	p.L888F(1)		breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|liver(1)|lung(12)|prostate(3)|upper_aerodigestive_tract(2)	27	all_cancers(143;1.54e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Bortezomib(DB00188)	TGAGGAGTTTCTTCCTGTTAC	0.527											OREG0015948	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	53	71					1.39843e-22	1.83753e-22	1	1	0	A	184026613	C	A	184026613	3	1	81	1	0	0	0	0	1	0	0	0	12747	913	32	4	2744	4	PSMD2	3	184026613	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	19168	184026613	13995817	3531	7147											
EIF4G1	1981	broad.mit.edu	37	3	184040467	184040467	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:184040467C>T	ENST00000342981.4	+	11	2158	c.1744C>T	c.(1744-1746)Cac>Tac	p.H582Y	EIF4G1_ENST00000414031.1_Missense_Mutation_p.H542Y|EIF4G1_ENST00000352767.3_Missense_Mutation_p.H589Y|EIF4G1_ENST00000350481.5_Missense_Mutation_p.H418Y|EIF4G1_ENST00000392537.2_Missense_Mutation_p.H495Y|EIF4G1_ENST00000424196.1_Missense_Mutation_p.H589Y|EIF4G1_ENST00000435046.2_Missense_Mutation_p.H386Y|EIF4G1_ENST00000434061.2_Missense_Mutation_p.H386Y|EIF4G1_ENST00000427845.1_Missense_Mutation_p.H495Y|EIF4G1_ENST00000382330.3_Missense_Mutation_p.H589Y|EIF4G1_ENST00000441154.1_Missense_Mutation_p.H418Y|EIF4G1_ENST00000319274.6_Missense_Mutation_p.H582Y|EIF4G1_ENST00000346169.2_Missense_Mutation_p.H582Y|EIF4G1_ENST00000411531.1_Missense_Mutation_p.H542Y|EIF2B5_ENST00000444495.1_Intron	NM_182917.4	NP_886553	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	582	MIF4G.				insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			AGACAAAATTCACAATGCTGA	0.507													18	21					0	0	1	0	0	T	184040467	C	T	184040467	3	4	81	1	0	0	0	0	1	0	0	0	5064	826	29	2	1782	2	EIF4G1	3	184040467	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	13854	184040467	13981963	3532	7148											
CLCN2	1181	broad.mit.edu	37	3	184070836	184070836	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:184070836C>T	ENST00000265593.4	-	18	2299	c.2128G>A	c.(2128-2130)Gga>Aga	p.G710R	CLCN2_ENST00000434054.2_Missense_Mutation_p.G666R|CLCN2_ENST00000423355.2_3'UTR|CLCN2_ENST00000457512.1_Missense_Mutation_p.G710R|EIF2B5_ENST00000444495.1_Intron|CLCN2_ENST00000344937.7_Missense_Mutation_p.G693R	NM_004366.5	NP_004357.3	P51788	CLCN2_HUMAN	chloride channel, voltage-sensitive 2	710						chloride channel complex	voltage-gated chloride channel activity			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Lubiprostone(DB01046)	GGACTCTCTCCGAGGTTCCTG	0.607													62	86					0	0	1	0	0	T	184070836	C	T	184070836	3	4	81	1	0	0	0	0	1	0	0	0	3486	661	23	1	596	1	CLCN2	3	184070836	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	30369	184070836	13951594	3533	7149											
CLCN2	1181	broad.mit.edu	37	3	184073305	184073305	+	Nonsense_Mutation	SNP	C	C	A	rs146097084		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:184073305C>A	ENST00000265593.4	-	12	1354	c.1183G>T	c.(1183-1185)Gag>Tag	p.E395*	CLCN2_ENST00000434054.2_Nonsense_Mutation_p.E351*|CLCN2_ENST00000475279.1_5'UTR|CLCN2_ENST00000423355.2_Nonsense_Mutation_p.E36*|CLCN2_ENST00000457512.1_Nonsense_Mutation_p.E395*|EIF2B5_ENST00000444495.1_Intron|CLCN2_ENST00000344937.7_Nonsense_Mutation_p.E395*	NM_004366.5	NP_004357.3	P51788	CLCN2_HUMAN	chloride channel, voltage-sensitive 2	395						chloride channel complex	voltage-gated chloride channel activity			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Lubiprostone(DB01046)	ACCAGCGTCTCTTTCTGTGAG	0.612													12	51					0.000978159	0.00104673	1	1	0	A	184073305	C	A	184073305	4	1	81	1	0	0	0	0	0	1	0	0	3486	922	32	4	1565	4	CLCN2	3	184073305	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2469	184073305	13949125	3534	7150											
CHRD	8646	broad.mit.edu	37	3	184099582	184099582	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:184099582G>A	ENST00000204604.1	+	5	836	c.590G>A	c.(589-591)cGc>cAc	p.R197H	CHRD_ENST00000450923.1_Missense_Mutation_p.R197H|CHRD_ENST00000348986.3_Missense_Mutation_p.R197H|EIF2B5_ENST00000444495.1_Intron|CHRD_ENST00000482805.1_3'UTR	NM_003741.2	NP_003732.2	Q9H2X0	CHRD_HUMAN	chordin	197	CHRD 1.				BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development	extracellular space	cytokine binding			NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TCTAGCCTCCGCTTCTCTATC	0.672													9	9					0	0	1	0	0	A	184099582	G	A	184099582	3	1	81	1	0	0	0	0	1	0	0	0	3394	1087	38	1	608	1	CHRD	3	184099582	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	26277	184099582	13922848	3535	7151											
EPHB3	2049	broad.mit.edu	37	3	184290522	184290522	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:184290522C>T	ENST00000330394.2	+	3	866	c.414C>T	c.(412-414)gaC>gaT	p.D138D	EIF2B5_ENST00000444495.1_Intron	NM_004443.3	NP_004434.2	P54753	EPHB3_HUMAN	EPH receptor B3	138						integral to plasma membrane	ATP binding|ephrin receptor activity			breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)			ACGAGGCTGACAGCGATGTGG	0.582													12	25					0	0	1	0	0	T	184290522	C	T	184290522	2	4	81	1	0	0	0	0	0	0	0	1	5204	477	17	2		2	EPHB3	3	184290522	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	190940	184290522	13731908	3536	7152											
EPHB3	2049	broad.mit.edu	37	3	184295234	184295234	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:184295234C>T	ENST00000330394.2	+	6	1910	c.1458C>T	c.(1456-1458)taC>taT	p.Y486Y	EIF2B5_ENST00000444495.1_Intron	NM_004443.3	NP_004434.2	P54753	EPHB3_HUMAN	EPH receptor B3	486	Fibronectin type-III 2.					integral to plasma membrane	ATP binding|ephrin receptor activity			breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)			TCCTGGACTACGAGATGAAGT	0.602													33	52					0	0	1	0	0	T	184295234	C	T	184295234	2	4	81	1	0	0	0	0	0	0	0	1	5204	547	19	1		1	EPHB3	3	184295234	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	4712	184295234	13727196	3537	7153											
EPHB3	2049	broad.mit.edu	37	3	184297592	184297592	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:184297592G>A	ENST00000330394.2	+	11	2494	c.2042G>A	c.(2041-2043)aGc>aAc	p.S681N	EIF2B5_ENST00000444495.1_Intron	NM_004443.3	NP_004434.2	P54753	EPHB3_HUMAN	EPH receptor B3	681	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)			GACTTCCTAAGCGAGGCCTCC	0.577													27	24					0	0	1	0	0	A	184297592	G	A	184297592	3	1	81	1	0	0	0	0	1	0	0	0	5204	971	34	2	2084	2	EPHB3	3	184297592	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2358	184297592	13724838	3538	7154											
EHHADH	1962	broad.mit.edu	37	3	184910836	184910836	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:184910836G>T	ENST00000231887.3	-	7	1425	c.1350C>A	c.(1348-1350)taC>taA	p.Y450*	EHHADH_ENST00000456310.1_Nonsense_Mutation_p.Y354*	NM_001166415.1|NM_001966.3	NP_001159887.1|NP_001957.2	Q08426	ECHP_HUMAN	enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase	450	3-hydroxyacyl-CoA dehydrogenase.					peroxisome	3-hydroxyacyl-CoA dehydrogenase activity|coenzyme binding|dodecenoyl-CoA delta-isomerase activity|enoyl-CoA hydratase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(2)|skin(3)	24	all_cancers(143;4.04e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.98e-32)|OV - Ovarian serous cystadenocarcinoma(80;5.55e-21)		NADH(DB00157)	TGGGGGAAGAGTATTGGCTGG	0.428													14	62					1.36491e-13	1.72302e-13	1	1	0	T	184910836	G	T	184910836	4	4	81	1	0	0	0	0	0	1	0	0	5008	1024	36	4	825	4	EHHADH	3	184910836	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	613244	184910836	13111594	3539	7155											
TMEM41A	90407	broad.mit.edu	37	3	185212550	185212550	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:185212550C>A	ENST00000421852.1	-	4	531		c.e4-1		TMEM41A_ENST00000296254.3_Intron|TMEM41A_ENST00000475480.1_Splice_Site	NM_080652.3	NP_542383.1	Q96HV5	TM41A_HUMAN	transmembrane protein 41A							integral to membrane				large_intestine(1)|lung(2)|skin(1)	4	all_cancers(143;7.78e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			TCTCCTCCACCTGTAGCCAAA	0.438													5	95					5.9392e-07	6.87481e-07	1	1	0	A	185212550	C	A	185212550	5	1	81	1	0	0	0	0	0	0	1	0	16224	695	24	4	367	4	TMEM41A	3	185212550	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	301714	185212550	12809880	3540	7156											
LIPH	200879	broad.mit.edu	37	3	185234927	185234927	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:185234927C>A	ENST00000296252.4	-	7	1051	c.910G>T	c.(910-912)Gac>Tac	p.D304Y	LIPH_ENST00000424591.2_Missense_Mutation_p.D270Y	NM_139248.2	NP_640341.1	Q8WWY8	LIPH_HUMAN	lipase, member H	304					lipid catabolic process	extracellular space|plasma membrane	heparin binding|phospholipase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(2)	20	all_cancers(143;8.87e-11)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)			CTTAGATGGTCTTTCCAATTA	0.378													39	82					8.69298e-16	1.11162e-15	1	1	0	A	185234927	C	A	185234927	3	1	81	1	0	0	0	0	1	0	0	0	8865	913	32	4	461	4	LIPH	3	185234927	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	22377	185234927	12787503	3541	7157											
LIPH	200879	broad.mit.edu	37	3	185236961	185236961	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:185236961G>A	ENST00000296252.4	-	6	996	c.855C>T	c.(853-855)ggC>ggT	p.G285G	LIPH_ENST00000424591.2_Silent_p.G251G	NM_139248.2	NP_640341.1	Q8WWY8	LIPH_HUMAN	lipase, member H	285					lipid catabolic process	extracellular space|plasma membrane	heparin binding|phospholipase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(2)	20	all_cancers(143;8.87e-11)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)			TTTGTGACGTGCCGCAGCTGA	0.478													10	83					0	0	1	0	0	A	185236961	G	A	185236961	2	1	81	1	0	0	0	0	0	0	0	1	8865	1306	46	2		2	LIPH	3	185236961	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2034	185236961	12785469	3542	7158											
LIPH	200879	broad.mit.edu	37	3	185251378	185251378	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:185251378T>C	ENST00000296252.4	-	3	648	c.507A>G	c.(505-507)ggA>ggG	p.G169G	LIPH_ENST00000424591.2_Silent_p.G169G	NM_139248.2	NP_640341.1	Q8WWY8	LIPH_HUMAN	lipase, member H	169					lipid catabolic process	extracellular space|plasma membrane	heparin binding|phospholipase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(2)	20	all_cancers(143;8.87e-11)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)			TCCCCAGCCATCCATCGTACA	0.493													13	71					0	0	1	0	0	C	185251378	T	C	185251378	2	2	81	1	0	0	0	0	0	0	0	1	8865	1422	50	3		3	LIPH	3	185251378	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	14417	185251378	12771052	3543	7159											
SENP2	59343	broad.mit.edu	37	3	185304249	185304249	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:185304249C>T	ENST00000296257.5	+	1	288	c.48C>T	c.(46-48)tgC>tgT	p.C16C	SENP2_ENST00000427465.2_5'UTR|SENP2_ENST00000465201.1_Intron|SENP2_ENST00000545472.1_Intron	NM_021627.2	NP_067640.2	Q9HC62	SENP2_HUMAN	SUMO1/sentrin/SMT3 specific peptidase 2	16					mRNA transport|protein desumoylation|protein transport|proteolysis|regulation of Wnt receptor signaling pathway|transmembrane transport|Wnt receptor signaling pathway	cytoplasm|nuclear membrane|nuclear pore	protein binding|SUMO-specific protease activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(3)	12	all_cancers(143;1.28e-10)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)			TCCGTTTCTGCGACCGGTCGG	0.667													15	129					0	0	1	0	0	T	185304249	C	T	185304249	2	4	81	1	0	0	0	0	0	0	0	1	14101	776	27	1		1	SENP2	3	185304249	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	52871	185304249	12718181	3544	7160											
SENP2	59343	broad.mit.edu	37	3	185318632	185318632	+	Silent	SNP	G	G	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:185318632G>C	ENST00000296257.5	+	5	678	c.438G>C	c.(436-438)ctG>ctC	p.L146L	SENP2_ENST00000427465.2_5'UTR|SENP2_ENST00000465201.1_3'UTR|SENP2_ENST00000545472.1_Silent_p.L136L	NM_021627.2	NP_067640.2	Q9HC62	SENP2_HUMAN	SUMO1/sentrin/SMT3 specific peptidase 2	146					mRNA transport|protein desumoylation|protein transport|proteolysis|regulation of Wnt receptor signaling pathway|transmembrane transport|Wnt receptor signaling pathway	cytoplasm|nuclear membrane|nuclear pore	protein binding|SUMO-specific protease activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(3)	12	all_cancers(143;1.28e-10)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)			GCAGAGTCCTGCCTTCCTTTG	0.373													14	194					0	0	1	0	0	C	185318632	G	C	185318632	2	2	81	1	0	0	0	0	0	0	0	1	14101	1306	46	5		5	SENP2	3	185318632	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	14383	185318632	12703798	3545	7161											
SENP2	59343	broad.mit.edu	37	3	185327117	185327117	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:185327117C>A	ENST00000296257.5	+	7	941	c.701C>A	c.(700-702)cCt>cAt	p.P234H	SENP2_ENST00000427465.2_Missense_Mutation_p.P58H|SENP2_ENST00000545472.1_Missense_Mutation_p.P224H	NM_021627.2	NP_067640.2	Q9HC62	SENP2_HUMAN	SUMO1/sentrin/SMT3 specific peptidase 2	234					mRNA transport|protein desumoylation|protein transport|proteolysis|regulation of Wnt receptor signaling pathway|transmembrane transport|Wnt receptor signaling pathway	cytoplasm|nuclear membrane|nuclear pore	protein binding|SUMO-specific protease activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(3)	12	all_cancers(143;1.28e-10)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)			TCTGTCTGTCCTGTAACTTCA	0.378													8	68					0.0477658	0.0487066	1	1	0	A	185327117	C	A	185327117	3	1	81	1	0	0	0	0	1	0	0	0	14101	681	24	4	727	4	SENP2	3	185327117	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	8485	185327117	12695313	3546	7162											
SENP2	59343	broad.mit.edu	37	3	185330425	185330425	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:185330425G>A	ENST00000296257.5	+	9	1088	c.848G>A	c.(847-849)tGt>tAt	p.C283Y	SENP2_ENST00000427465.2_Missense_Mutation_p.C107Y|SENP2_ENST00000545472.1_Missense_Mutation_p.C273Y	NM_021627.2	NP_067640.2	Q9HC62	SENP2_HUMAN	SUMO1/sentrin/SMT3 specific peptidase 2	283					mRNA transport|protein desumoylation|protein transport|proteolysis|regulation of Wnt receptor signaling pathway|transmembrane transport|Wnt receptor signaling pathway	cytoplasm|nuclear membrane|nuclear pore	protein binding|SUMO-specific protease activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(3)	12	all_cancers(143;1.28e-10)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)			GGACCTCTATGTTCATTGAGA	0.308													12	31					0	0	1	0	0	A	185330425	G	A	185330425	3	1	81	1	0	0	0	0	1	0	0	0	14101	1377	48	2	882	2	SENP2	3	185330425	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	3308	185330425	12692005	3547	7163											
IGF2BP2	10644	broad.mit.edu	37	3	185407364	185407364	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:185407364A>G	ENST00000382199.2	-	6	551	c.456T>C	c.(454-456)atT>atC	p.I152I	IGF2BP2_ENST00000457616.2_Silent_p.I158I|IGF2BP2_ENST00000346192.3_Silent_p.I152I|IGF2BP2_ENST00000421047.2_Silent_p.I95I	NM_006548.4	NP_006539.3	Q9Y6M1	IF2B2_HUMAN	insulin-like growth factor 2 mRNA binding protein 2	152	RRM 2.				anatomical structure morphogenesis|negative regulation of translation	cytoskeletal part|cytosol|nucleus	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)	20	all_cancers(143;5.84e-11)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)			GGATGTAGGAAATCTTGAAGG	0.582													34	36					0	0	1	0	0	G	185407364	A	G	185407364	2	3	81	1	0	0	0	0	0	0	0	1	7618	10	1	3		3	IGF2BP2	3	185407364	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	76939	185407364	12615066	3548	7164											
TRA2B	6434	broad.mit.edu	37	3	185643365	185643365	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:185643365G>A	ENST00000453386.2	-	3	495	c.220C>T	c.(220-222)Cgc>Tgc	p.R74C	TRA2B_ENST00000382191.4_5'UTR	NM_004593.2	NP_004584.1	P62995	TRA2B_HUMAN	transformer 2 beta homolog (Drosophila)	74	Arg/Ser-rich (RS1 domain).				nuclear mRNA splicing, via spliceosome	nucleus	nucleotide binding|protein binding|RNA binding			breast(2)|kidney(1)|large_intestine(6)|lung(4)|ovary(3)|prostate(1)|urinary_tract(1)	18						GAGCGGGAGCGAGACCGTGAC	0.507													5	48					0	0	1	0	0	A	185643365	G	A	185643365	3	1	81	1	0	0	0	0	1	0	0	0	16495	1058	37	1	674	1	TRA2B	3	185643365	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	236001	185643365	12379065	3549	7165											
DGKG	1608	broad.mit.edu	37	3	186002489	186002489	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:186002489C>T	ENST00000265022.3	-	7	1093	c.554G>A	c.(553-555)cGc>cAc	p.R185H	DGKG_ENST00000344484.4_Missense_Mutation_p.R185H|DGKG_ENST00000544847.1_Missense_Mutation_p.R185H|DGKG_ENST00000382164.4_Missense_Mutation_p.R185H	NM_001080744.1|NM_001080745.1|NM_001346.2	NP_001074213.1|NP_001074214.1|NP_001337.2	P49619	DGKG_HUMAN	diacylglycerol kinase, gamma 90kDa	185	EF-hand 1.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	42	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	Phosphatidylserine(DB00144)	ATCATAGAGGCGAAACATGAC	0.483													17	44					0	0	1	0	0	T	186002489	C	T	186002489	3	4	81	1	0	0	0	0	1	0	0	0	4497	768	27	1	1897	1	DGKG	3	186002489	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	359124	186002489	12019941	3550	7166											
TBCCD1	55171	broad.mit.edu	37	3	186276249	186276249	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:186276249G>T	ENST00000424280.1	-	3	928	c.449C>A	c.(448-450)tCt>tAt	p.S150Y	TBCCD1_ENST00000446782.1_Missense_Mutation_p.S54Y|TBCCD1_ENST00000338733.5_Missense_Mutation_p.S150Y	NM_001134415.1	NP_001127887.1	Q9NVR7	TBCC1_HUMAN	TBCC domain containing 1	150					cell morphogenesis|maintenance of centrosome location|maintenance of Golgi location|regulation of cell migration|regulation of cell shape	spindle pole centrosome	binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|skin(1)	17	all_cancers(143;3.75e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;4.3e-21)	GBM - Glioblastoma multiforme(93;0.0474)		AGGAGACTGAGATTTGTTTCT	0.408													8	151					0.00621372	0.00649472	1	1	0	T	186276249	G	T	186276249	3	4	81	1	0	0	0	0	1	0	0	0	15692	942	33	4	1244	4	TBCCD1	3	186276249	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	273760	186276249	11746181	3551	7167											
KNG1	3827	broad.mit.edu	37	3	186457161	186457161	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:186457161G>A	ENST00000265023.4	+	9	1295	c.1083G>A	c.(1081-1083)gaG>gaA	p.E361E	RP11-573D15.8_ENST00000354642.2_RNA|KNG1_ENST00000287611.2_Silent_p.E361E|KNG1_ENST00000447445.1_Silent_p.E325E|RP11-573D15.8_ENST00000599314.1_RNA	NM_001102416.2	NP_001095886.1	P01042	KNG1_HUMAN	kininogen 1	361	Cystatin 3.				blood coagulation, intrinsic pathway|elevation of cytosolic calcium ion concentration|inflammatory response|negative regulation of blood coagulation|negative regulation of cell adhesion|platelet activation|platelet degranulation|positive regulation of apoptosis|positive regulation of renal sodium excretion|positive regulation of urine volume|smooth muscle contraction|vasodilation	extracellular space|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding|receptor binding|zinc ion binding			endometrium(1)|lung(15)|prostate(1)|skin(2)|stomach(2)	21	all_cancers(143;8.96e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;4.12e-20)	GBM - Glioblastoma multiforme(93;0.0798)	Ouabain(DB01092)	TACCCTGGGAGAAAAAAATTT	0.403													28	43					0	0	1	0	0	A	186457161	G	A	186457161	2	1	81	1	0	0	0	0	0	0	0	1	8470	933	33	2		2	KNG1	3	186457161	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	180912	186457161	11565269	3552	7168											
KNG1	3827	broad.mit.edu	37	3	186459812	186459812	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:186459812G>A	ENST00000265023.4	+	10	1839	c.1627G>A	c.(1627-1629)Gaa>Aaa	p.E543K	RP11-573D15.8_ENST00000354642.2_RNA|KNG1_ENST00000287611.2_Intron|KNG1_ENST00000447445.1_Intron|RP11-573D15.8_ENST00000599314.1_RNA	NM_001102416.2	NP_001095886.1	P01042	KNG1_HUMAN	kininogen 1	543					blood coagulation, intrinsic pathway|elevation of cytosolic calcium ion concentration|inflammatory response|negative regulation of blood coagulation|negative regulation of cell adhesion|platelet activation|platelet degranulation|positive regulation of apoptosis|positive regulation of renal sodium excretion|positive regulation of urine volume|smooth muscle contraction|vasodilation	extracellular space|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding|receptor binding|zinc ion binding			endometrium(1)|lung(15)|prostate(1)|skin(2)|stomach(2)	21	all_cancers(143;8.96e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;4.12e-20)	GBM - Glioblastoma multiforme(93;0.0798)	Ouabain(DB01092)	AGAGAAGACAGAAGGGCCAAC	0.458													18	34					0	0	1	0	0	A	186459812	G	A	186459812	3	1	81	1	0	0	0	0	1	0	0	0	8470	943	33	2	1665	2	KNG1	3	186459812	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2651	186459812	11562618	3553	7169											
RFC4	5984	broad.mit.edu	37	3	186509558	186509558	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:186509558C>A	ENST00000392481.2	-	8	1038	c.757G>T	c.(757-759)Ggt>Tgt	p.G253C	RFC4_ENST00000296273.2_Missense_Mutation_p.G253C|RFC4_ENST00000433496.1_Missense_Mutation_p.G253C	NM_181573.2	NP_853551.1	P35249	RFC4_HUMAN	replication factor C (activator 1) 4, 37kDa	253					cell cycle checkpoint|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|phosphatidylinositol-mediated signaling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|protein binding			breast(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_cancers(143;2.92e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)	GBM - Glioblastoma multiforme(93;0.0739)		TCCTTTCCACCTGTTAATCGA	0.378													25	76					3.01185e-09	3.62286e-09	1	1	0	A	186509558	C	A	186509558	3	1	81	1	0	0	0	0	1	0	0	0	13299	681	24	4	350	4	RFC4	3	186509558	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	49746	186509558	11512872	3554	7170											
RFC4	5984	broad.mit.edu	37	3	186522387	186522387	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:186522387G>A	ENST00000392481.2	-	2	397	c.116C>T	c.(115-117)cCc>cTc	p.P39L	RFC4_ENST00000296273.2_Missense_Mutation_p.P39L|RFC4_ENST00000433496.1_Missense_Mutation_p.P39L	NM_181573.2	NP_853551.1	P35249	RFC4_HUMAN	replication factor C (activator 1) 4, 37kDa	39					cell cycle checkpoint|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|phosphatidylinositol-mediated signaling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|protein binding	p.P39L(1)		breast(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_cancers(143;2.92e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)	GBM - Glioblastoma multiforme(93;0.0739)		TTCCACCCAGGGAACGGGTTT	0.398													50	96					0	0	1	0	0	A	186522387	G	A	186522387	3	1	81	1	0	0	0	0	1	0	0	0	13299	1232	43	2	1015	2	RFC4	3	186522387	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	12829	186522387	11500043	3555	7171											
RFC4	5984	broad.mit.edu	37	3	186522416	186522416	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:186522416G>A	ENST00000392481.2	-	2	368	c.87C>T	c.(85-87)agC>agT	p.S29S	RFC4_ENST00000296273.2_Silent_p.S29S|RFC4_ENST00000433496.1_Silent_p.S29S	NM_181573.2	NP_853551.1	P35249	RFC4_HUMAN	replication factor C (activator 1) 4, 37kDa	29					cell cycle checkpoint|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|phosphatidylinositol-mediated signaling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|protein binding			breast(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_cancers(143;2.92e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)	GBM - Glioblastoma multiforme(93;0.0739)		TGTTCTCTCCGCTACTTCCCG	0.438													73	85					0	0	1	0	0	A	186522416	G	A	186522416	2	1	81	1	0	0	0	0	0	0	0	1	13299	1078	38	1		1	RFC4	3	186522416	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	29	186522416	11500014	3556	7172											
ST6GAL1	6480	broad.mit.edu	37	3	186760527	186760527	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:186760527C>A	ENST00000169298.3	+	4	710	c.36C>A	c.(34-36)tgC>tgA	p.C12*	ST6GAL1_ENST00000457772.2_Intron|ST6GAL1_ENST00000448044.1_Nonsense_Mutation_p.C12*	NM_173216.2	NP_775323.1	P15907	SIAT1_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 1	12					humoral immune response|post-translational protein modification|protein N-linked glycosylation via asparagine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7	all_cancers(143;2.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;8.53e-19)	GBM - Glioblastoma multiforme(93;0.0939)		AGTTCAGCTGCTGCGTCCTGG	0.403													32	210					4.4194e-11	5.45873e-11	1	1	0	A	186760527	C	A	186760527	4	1	81	1	0	0	0	0	0	1	0	0	15277	805	28	4	38	4	ST6GAL1	3	186760527	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	238111	186760527	11261903	3557	7173											
MASP1	5648	broad.mit.edu	37	3	186937930	186937930	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:186937930G>A	ENST00000337774.5	-	16	2418	c.2029C>T	c.(2029-2031)Cgc>Tgc	p.R677C		NM_001879.5	NP_001870.3	P48740	MASP1_HUMAN	mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)	677	Peptidase S1.				complement activation, lectin pathway|negative regulation of complement activation|proteolysis	extracellular space	calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)		ACTCCGTAGCGGTCCTTCTTC	0.572											OREG0015972	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	50					0	0	1	0	0	A	186937930	G	A	186937930	3	1	81	1	0	0	0	0	1	0	0	0	9372	1116	39	1	74	1	MASP1	3	186937930	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	177403	186937930	11084500	3558	7174											
MASP1	5648	broad.mit.edu	37	3	186943254	186943254	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:186943254G>A	ENST00000337774.5	-	13	1988	c.1599C>T	c.(1597-1599)ctC>ctT	p.L533L		NM_001879.5	NP_001870.3	P48740	MASP1_HUMAN	mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)	533	Peptidase S1.				complement activation, lectin pathway|negative regulation of complement activation|proteolysis	extracellular space	calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)		GTTTGACGCCGAGATGCTGTT	0.532													10	130					0	0	1	0	0	A	186943254	G	A	186943254	2	1	81	1	0	0	0	0	0	0	0	1	9372	1045	37	1		1	MASP1	3	186943254	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	5324	186943254	11079176	3559	7175											
MASP1	5648	broad.mit.edu	37	3	186953538	186953538	+	Silent	SNP	G	G	A	rs144758799		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:186953538G>A	ENST00000296280.6	-	11	2346	c.2121C>T	c.(2119-2121)taC>taT	p.Y707Y	MASP1_ENST00000337774.5_Intron|MASP1_ENST00000392472.2_Silent_p.Y594Y	NM_139125.3	NP_624302.1	P48740	MASP1_HUMAN	mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)	687					complement activation, lectin pathway|negative regulation of complement activation|proteolysis	extracellular space	calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)		CCCAGTCCACGTAATTGGAGA	0.597													5	37					0	0	1	0	0	A	186953538	G	A	186953538	2	1	81	1	0	0	0	0	0	0	0	1	9372	1140	40	1		1	MASP1	3	186953538	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	10284	186953538	11068892	3560	7176											
MASP1	5648	broad.mit.edu	37	3	186969454	186969454	+	Missense_Mutation	SNP	C	C	T	rs142112097	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:186969454C>T	ENST00000337774.5	-	7	1368	c.979G>A	c.(979-981)Gtc>Atc	p.V327I	MASP1_ENST00000296280.6_Missense_Mutation_p.V327I|MASP1_ENST00000495249.1_Intron|MASP1_ENST00000169293.6_Missense_Mutation_p.V327I|MASP1_ENST00000392470.2_Missense_Mutation_p.V301I|MASP1_ENST00000392472.2_Missense_Mutation_p.V214I	NM_001879.5	NP_001870.3	P48740	MASP1_HUMAN	mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)	327	Sushi 1.				complement activation, lectin pathway|negative regulation of complement activation|proteolysis	extracellular space	calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)		TCACAGCTGACGAGCACTTGG	0.552													6	104					0	0	1	0	0	T	186969454	C	T	186969454	3	4	81	1	0	0	0	0	1	0	0	0	9372	536	19	1	2105	1	MASP1	3	186969454	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	15916	186969454	11052976	3561	7177											
SST	6750	broad.mit.edu	37	3	187386859	187386859	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:187386859G>T	ENST00000287641.3	-	2	452	c.345C>A	c.(343-345)tcC>tcA	p.S115S		NM_001048.3	NP_001039.1	P61278	SMS_HUMAN	somatostatin	115					digestion|G-protein coupled receptor protein signaling pathway|induction of apoptosis by hormones|negative regulation of cell proliferation|response to nutrient|synaptic transmission	extracellular space	hormone activity			kidney(1)|large_intestine(1)|lung(6)|pancreas(1)	9	all_cancers(143;4.06e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.00444)	Bromocriptine(DB01200)|Cysteamine(DB00847)	AAAGCTAACAGGATGTGAAAG	0.507													8	150					5.18039e-06	5.88187e-06	1	1	0	T	187386859	G	T	187386859	2	4	81	1	0	0	0	0	0	0	0	1	15252	987	35	4		4	SST	3	187386859	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	417405	187386859	10635571	3562	7178											
BCL6	604	broad.mit.edu	37	3	187446838	187446838	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:187446838C>A	ENST00000406870.2	-	5	1721	c.1355G>T	c.(1354-1356)aGg>aTg	p.R452M	RP11-211G3.3_ENST00000449623.1_Intron|BCL6_ENST00000232014.4_Splice_Site_p.R452M|RP11-211G3.3_ENST00000437407.1_Intron|BCL6_ENST00000450123.2_Splice_Site_p.R452M	NM_001706.4	NP_001697.2	P41182	BCL6_HUMAN	B-cell CLL/lymphoma 6	452					negative regulation of B cell apoptosis|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|protein import into nucleus, translocation|regulation of germinal center formation|response to DNA damage stimulus	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(9)|lung(10)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	40	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)		CTGAAATCACCTGTTAACGAT	0.542			"T, Mis"	"IG loci, ZNFN1A1, LCP1, PIM1, TFRC, CIITA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R,  POU2AF1, ARHH, EIF4A2, SFRS3"	"NHL, CLL"								4	26					0.184627	0.18622	1	1	0	A	187446838	C	A	187446838	5	1	81	1	0	0	0	0	0	0	1	0	1374	695	24	4	789	4	BCL6	3	187446838	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	59979	187446838	10575592	3563	7179											
BCL6	604	broad.mit.edu	37	3	187447458	187447458	+	Silent	SNP	C	C	T	rs2228258	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:187447458C>T	ENST00000406870.2	-	5	1101	c.735G>A	c.(733-735)ccG>ccA	p.P245P	RP11-211G3.3_ENST00000449623.1_Intron|BCL6_ENST00000232014.4_Silent_p.P245P|RP11-211G3.3_ENST00000437407.1_Intron|BCL6_ENST00000450123.2_Silent_p.P245P	NM_001706.4	NP_001697.2	P41182	BCL6_HUMAN	B-cell CLL/lymphoma 6	245					negative regulation of B cell apoptosis|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|protein import into nucleus, translocation|regulation of germinal center formation|response to DNA damage stimulus	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(9)|lung(10)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	40	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)		CCTCCAAAGTCGGCCGGCTGT	0.567			"T, Mis"	"IG loci, ZNFN1A1, LCP1, PIM1, TFRC, CIITA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R,  POU2AF1, ARHH, EIF4A2, SFRS3"	"NHL, CLL"								8	17					0	0	1	0	0	T	187447458	C	T	187447458	2	4	81	1	0	0	0	0	0	0	0	1	1374	871	31	1		1	BCL6	3	187447458	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	620	187447458	10574972	3564	7180											
LPP	4026	broad.mit.edu	37	3	188327202	188327202	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:188327202C>A	ENST00000312675.4	+	6	929	c.683C>A	c.(682-684)gCc>gAc	p.A228D	LPP_ENST00000543006.1_Missense_Mutation_p.A228D|LPP_ENST00000448637.1_Missense_Mutation_p.A228D|LPP_ENST00000471917.1_3'UTR	NM_001167672.1|NM_005578.3	NP_001161144.1|NP_005569.1	Q93052	LPP_HUMAN	LIM domain containing preferred translocation partner in lipoma	228	Pro-rich.				cell adhesion	cytoplasm|focal adhesion|nucleus	protein binding|zinc ion binding		HMGA2/LPP(161)	NS(1)|breast(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10	all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088)	all_lung(153;0.00139)|Lung NSC(153;0.00202)		GBM - Glioblastoma multiforme(93;0.00602)		GTGAAGTCAGCCCAGCCCAGC	0.562			T	"HMGA2, MLL, C12orf9"	"lipoma, leukemia"								27	31					7.07758e-08	8.34444e-08	1	1	0	A	188327202	C	A	188327202	3	1	81	1	0	0	0	0	1	0	0	0	8968	739	26	5	697	5	LPP	3	188327202	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	879744	188327202	9695228	3565	7181											
LPP	4026	broad.mit.edu	37	3	188592251	188592251	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:188592251C>T	ENST00000312675.4	+	11	2069	c.1823C>T	c.(1822-1824)gCg>gTg	p.A608V	LPP_ENST00000543006.1_Missense_Mutation_p.A608V	NM_001167672.1|NM_005578.3	NP_001161144.1|NP_005569.1	Q93052	LPP_HUMAN	LIM domain containing preferred translocation partner in lipoma	608					cell adhesion	cytoplasm|focal adhesion|nucleus	protein binding|zinc ion binding		HMGA2/LPP(161)	NS(1)|breast(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10	all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088)	all_lung(153;0.00139)|Lung NSC(153;0.00202)		GBM - Glioblastoma multiforme(93;0.00602)		ACCGCCAAGGCGAGCACTGAC	0.502			T	"HMGA2, MLL, C12orf9"	"lipoma, leukemia"								23	42					0	0	1	0	0	T	188592251	C	T	188592251	3	4	81	1	0	0	0	0	1	0	0	0	8968	768	27	1	1857	1	LPP	3	188592251	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	265049	188592251	9430179	3566	7182											
TP63	8626	broad.mit.edu	37	3	189587135	189587135	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:189587135T>C	ENST00000264731.3	+	9	1241	c.1152T>C	c.(1150-1152)ggT>ggC	p.G384G	TP63_ENST00000320472.5_Silent_p.G384G|TP63_ENST00000392463.2_Silent_p.G290G|TP63_ENST00000382063.4_Silent_p.G299G|TP63_ENST00000456148.1_Silent_p.G286G|TP63_ENST00000418709.2_Silent_p.G384G|TP63_ENST00000392461.3_Silent_p.G290G|TP63_ENST00000392460.3_Silent_p.G384G|TP63_ENST00000440651.2_Silent_p.G380G|TP63_ENST00000449992.1_Silent_p.G205G|TP63_ENST00000437221.1_Silent_p.G290G|TP63_ENST00000354600.5_Silent_p.G290G	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	384	Interaction with HIPK2.				anti-apoptosis|cellular response to UV|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|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		ACACACATGGTATCCAGATGA	0.383										HNSCC(45;0.13)			3	30					0	0	1	0	0	C	189587135	T	C	189587135	2	2	81	1	0	0	0	0	0	0	0	1	16453	1625	57	3		3	TP63	3	189587135	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	994884	189587135	8435295	3567	7183											
LEPREL1	55214	broad.mit.edu	37	3	189692442	189692442	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:189692442C>T	ENST00000319332.5	-	9	1554	c.1357G>A	c.(1357-1359)Gtc>Atc	p.V453I	LEPREL1_ENST00000427335.2_Missense_Mutation_p.V272I	NM_018192.3	NP_060662.2	Q8IVL5	P3H2_HUMAN	leprecan-like 1	453					collagen metabolic process|negative regulation of cell proliferation|peptidyl-proline hydroxylation	basement membrane|endoplasmic reticulum|Golgi apparatus	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity	p.V453I(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(5)	41	all_cancers(143;4.01e-10)|Ovarian(172;0.0925)		Lung(62;4.35e-05)	GBM - Glioblastoma multiforme(93;0.02)	L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	GAGTTGTAGACGAATGTGATG	0.537													14	27					0	0	1	0	0	T	189692442	C	T	189692442	3	4	81	1	0	0	0	0	1	0	0	0	8769	536	19	1	797	1	LEPREL1	3	189692442	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	105307	189692442	8329988	3568	7184											
CLDN1	9076	broad.mit.edu	37	3	190030679	190030679	+	Missense_Mutation	SNP	C	C	T	rs140846629	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:190030679C>T	ENST00000295522.3	-	2	638	c.370G>A	c.(370-372)Gcg>Acg	p.A124T		NM_021101.4	NP_066924.1	O95832	CLD1_HUMAN	claudin 1	124					calcium-independent cell-cell adhesion|interspecies interaction between organisms	integral to plasma membrane|tight junction	identical protein binding|structural molecule activity			lung(9)	9	all_cancers(143;2.95e-10)|Ovarian(172;0.0512)		Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05)	GBM - Glioblastoma multiforme(93;0.015)		AGAAATATCGCACCCCCAATG	0.458													8	123					0	0	1	0	0	T	190030679	C	T	190030679	3	4	81	1	0	0	0	0	1	0	0	0	3494	710	25	2	277	2	CLDN1	3	190030679	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	338237	190030679	7991751	3569	7185											
IL1RAP	3556	broad.mit.edu	37	3	190345207	190345207	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:190345207G>A	ENST00000412504.2	+	7	1123	c.871G>A	c.(871-873)Gac>Aac	p.D291N	IL1RAP_ENST00000422940.1_Missense_Mutation_p.D291N|IL1RAP_ENST00000434491.1_Missense_Mutation_p.D150N|IL1RAP_ENST00000072516.3_Missense_Mutation_p.D291N|IL1RAP_ENST00000422485.1_Missense_Mutation_p.D291N|IL1RAP_ENST00000317757.3_Missense_Mutation_p.D291N|IL1RAP_ENST00000443369.2_Missense_Mutation_p.D291N|IL1RAP_ENST00000439062.1_Missense_Mutation_p.D291N|IL1RAP_ENST00000447382.1_Missense_Mutation_p.D291N			Q9NPH3	IL1AP_HUMAN	interleukin 1 receptor accessory protein	291	Ig-like C2-type 3.				inflammatory response|innate immune response|protein complex assembly	extracellular region|integral to plasma membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20	all_cancers(143;3.61e-10)|Ovarian(172;0.0733)|Breast(254;0.21)		Lung(62;1.95e-06)|LUSC - Lung squamous cell carcinoma(58;2.05e-06)	GBM - Glioblastoma multiforme(93;0.00851)		AAAACCTGATGACATCACTAT	0.418													4	65					0	0	1	0	0	A	190345207	G	A	190345207	3	1	81	1	0	0	0	0	1	0	0	0	7704	1290	45	2	893	2	IL1RAP	3	190345207	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	314528	190345207	7677223	3570	7186											
OSTN	344901	broad.mit.edu	37	3	190967869	190967869	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:190967869G>A	ENST00000339051.1	+	3	361	c.361G>A	c.(361-363)Gat>Aat	p.D121N	OSTN_ENST00000445281.1_Intron	NM_198184.1	NP_937827.1	P61366	OSTN_HUMAN	osteocrin	121					cell differentiation|multicellular organismal development|ossification		hormone activity			kidney(1)|large_intestine(3)|lung(6)|pancreas(1)|skin(2)	13	all_cancers(143;6.79e-09)|Ovarian(172;0.103)		LUSC - Lung squamous cell carcinoma(58;2.42e-06)|Lung(62;2.86e-06)	GBM - Glioblastoma multiforme(46;0.000254)		TATCCCCATGGATCGGATTGG	0.353													37	58					0	0	1	0	0	A	190967869	G	A	190967869	3	1	81	1	0	0	0	0	1	0	0	0	11346	1174	41	2	371	2	OSTN	3	190967869	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	622662	190967869	7054561	3571	7187											
ATP13A5	344905	broad.mit.edu	37	3	193081988	193081988	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:193081988G>A	ENST00000342358.4	-	2	262	c.145C>T	c.(145-147)Ctg>Ttg	p.L49L		NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	49					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		TAGAACACCAGCAGAAGGCCC	0.537													64	124					0	0	1	0	0	A	193081988	G	A	193081988	2	1	81	1	0	0	0	0	0	0	0	1	1126	962	34	2		2	ATP13A5	3	193081988	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2114119	193081988	4940442	3572	7188											
OPA1	4976	broad.mit.edu	37	3	193333519	193333519	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:193333519G>A	ENST00000361510.2	+	3	642	c.408G>A	c.(406-408)gtG>gtA	p.V136V	OPA1_ENST00000361150.2_Silent_p.V136V|OPA1_ENST00000392438.3_Silent_p.V136V|OPA1_ENST00000361908.3_Silent_p.V136V|OPA1_ENST00000361828.2_Silent_p.V136V|OPA1_ENST00000487986.1_3'UTR|OPA1_ENST00000361715.2_Silent_p.V136V	NM_130837.2	NP_570850.2	O60313	OPA1_HUMAN	optic atrophy 1 (autosomal dominant)	136					apoptosis|axon transport of mitochondrion|inner mitochondrial membrane organization|mitochondrial fission|mitochondrial fusion|positive regulation of anti-apoptosis|response to stimulus|visual perception	dendrite|integral to membrane|mitochondrial crista|mitochondrial intermembrane space|mitochondrial outer membrane	GTP binding|GTPase activity|magnesium ion binding|protein binding			breast(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(4)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(2)	31	all_cancers(143;9.56e-09)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000162)		AATGGATTGTGCCTGACATTG	0.348													8	201					0	0	1	0	0	A	193333519	G	A	193333519	2	1	81	1	0	0	0	0	0	0	0	1	10919	1306	46	2		2	OPA1	3	193333519	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	251531	193333519	4688911	3573	7189											
OPA1	4976	broad.mit.edu	37	3	193336716	193336716	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:193336716T>G	ENST00000361510.2	+	6	903	c.669T>G	c.(667-669)caT>caG	p.H223Q	OPA1_ENST00000361150.2_Missense_Mutation_p.H169Q|OPA1-AS1_ENST00000444085.1_RNA|OPA1_ENST00000392438.3_Missense_Mutation_p.H205Q|OPA1_ENST00000361908.3_Missense_Mutation_p.H205Q|OPA1_ENST00000361828.2_Missense_Mutation_p.H223Q|OPA1-AS1_ENST00000433105.1_RNA|OPA1_ENST00000487986.1_3'UTR|OPA1_ENST00000361715.2_Missense_Mutation_p.H187Q	NM_130837.2	NP_570850.2	O60313	OPA1_HUMAN	optic atrophy 1 (autosomal dominant)	205					apoptosis|axon transport of mitochondrion|inner mitochondrial membrane organization|mitochondrial fission|mitochondrial fusion|positive regulation of anti-apoptosis|response to stimulus|visual perception	dendrite|integral to membrane|mitochondrial crista|mitochondrial intermembrane space|mitochondrial outer membrane	GTP binding|GTPase activity|magnesium ion binding|protein binding			breast(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(4)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(2)	31	all_cancers(143;9.56e-09)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000162)		GTGACAAGCATTTTAGAAAGG	0.333													11	110					0	0	1	0	0	G	193336716	T	G	193336716	3	3	81	1	0	0	0	0	1	0	0	0	10919	1490	52	4	691	4	OPA1	3	193336716	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	3197	193336716	4685714	3574	7190											
OPA1	4976	broad.mit.edu	37	3	193355763	193355763	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:193355763G>T	ENST00000361510.2	+	11	1292	c.1058G>T	c.(1057-1059)aGt>aTt	p.S353I	OPA1_ENST00000361150.2_Missense_Mutation_p.S299I|OPA1_ENST00000392438.3_Missense_Mutation_p.S298I|OPA1_ENST00000361908.3_Missense_Mutation_p.S335I|OPA1_ENST00000361828.2_Missense_Mutation_p.S316I|OPA1_ENST00000361715.2_Missense_Mutation_p.S317I	NM_130837.2	NP_570850.2	O60313	OPA1_HUMAN	optic atrophy 1 (autosomal dominant)	298					apoptosis|axon transport of mitochondrion|inner mitochondrial membrane organization|mitochondrial fission|mitochondrial fusion|positive regulation of anti-apoptosis|response to stimulus|visual perception	dendrite|integral to membrane|mitochondrial crista|mitochondrial intermembrane space|mitochondrial outer membrane	GTP binding|GTPase activity|magnesium ion binding|protein binding			breast(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(4)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(2)	31	all_cancers(143;9.56e-09)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000162)		GGAGATCAGAGTGCTGGAAAG	0.388													4	28					0.00909568	0.00944708	1	1	0	T	193355763	G	T	193355763	3	4	81	1	0	0	0	0	1	0	0	0	10919	1029	36	4	1100	4	OPA1	3	193355763	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	19047	193355763	4666667	3575	7191											
OPA1	4976	broad.mit.edu	37	3	193361390	193361390	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:193361390C>A	ENST00000361510.2	+	15	1685	c.1451C>A	c.(1450-1452)cCt>cAt	p.P484H	OPA1_ENST00000361150.2_Missense_Mutation_p.P430H|OPA1_ENST00000392438.3_Missense_Mutation_p.P429H|OPA1_ENST00000361908.3_Missense_Mutation_p.P466H|OPA1_ENST00000361828.2_Missense_Mutation_p.P447H|OPA1_ENST00000361715.2_Missense_Mutation_p.P448H	NM_130837.2	NP_570850.2	O60313	OPA1_HUMAN	optic atrophy 1 (autosomal dominant)	429					apoptosis|axon transport of mitochondrion|inner mitochondrial membrane organization|mitochondrial fission|mitochondrial fusion|positive regulation of anti-apoptosis|response to stimulus|visual perception	dendrite|integral to membrane|mitochondrial crista|mitochondrial intermembrane space|mitochondrial outer membrane	GTP binding|GTPase activity|magnesium ion binding|protein binding			breast(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(4)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(2)	31	all_cancers(143;9.56e-09)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000162)		ATGCAGAATCCTAATGCCATC	0.328													5	49					5.9392e-07	6.87481e-07	1	1	0	A	193361390	C	A	193361390	3	1	81	1	0	0	0	0	1	0	0	0	10919	681	24	4	1509	4	OPA1	3	193361390	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	5627	193361390	4661040	3576	7192											
OPA1	4976	broad.mit.edu	37	3	193363415	193363415	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:193363415G>A	ENST00000361510.2	+	17	1915		c.e17+1		OPA1_ENST00000361150.2_Splice_Site|OPA1_ENST00000392438.3_Splice_Site|OPA1_ENST00000361908.3_Splice_Site|OPA1_ENST00000361828.2_Splice_Site|OPA1_ENST00000361715.2_Splice_Site	NM_130837.2	NP_570850.2	O60313	OPA1_HUMAN	optic atrophy 1 (autosomal dominant)						apoptosis|axon transport of mitochondrion|inner mitochondrial membrane organization|mitochondrial fission|mitochondrial fusion|positive regulation of anti-apoptosis|response to stimulus|visual perception	dendrite|integral to membrane|mitochondrial crista|mitochondrial intermembrane space|mitochondrial outer membrane	GTP binding|GTPase activity|magnesium ion binding|protein binding			breast(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(4)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(2)	31	all_cancers(143;9.56e-09)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000162)		ACAGGAAAAGGTATGCAAAGA	0.284													17	36					0	0	1	0	0	A	193363415	G	A	193363415	5	1	81	1	0	0	0	0	0	0	1	0	10919	1275	44	2	1748	2	OPA1	3	193363415	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2025	193363415	4659015	3577	7193											
GP5	2814	broad.mit.edu	37	3	194117456	194117456	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:194117456C>T	ENST00000401815.1	-	1	1627	c.1556G>A	c.(1555-1557)aGt>aAt	p.S519N	GP5_ENST00000323007.3_Missense_Mutation_p.S519N			P40197	GPV_HUMAN	glycoprotein V (platelet)	519					blood coagulation, intrinsic pathway|cell adhesion|platelet activation	integral to plasma membrane				breast(3)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(14)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	35	all_cancers(143;6.64e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;7.38e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.06e-05)		CCAGAACGGACTATGATCTTG	0.522													12	173					0	0	1	0	0	T	194117456	C	T	194117456	3	4	81	1	0	0	0	0	1	0	0	0	6623	565	20	2	130	2	GP5	3	194117456	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	754041	194117456	3904974	3578	7194											
ATP13A3	79572	broad.mit.edu	37	3	194154501	194154501	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:194154501C>A	ENST00000439040.1	-	21	3036	c.2245G>T	c.(2245-2247)Ggt>Tgt	p.G749C	ATP13A3_ENST00000256031.4_Splice_Site_p.G749C			Q9H7F0	AT133_HUMAN	ATPase type 13A3	749					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	24	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)		AAAGTCTAACCTGTGACCATG	0.333													6	86					2.0095e-06	2.30238e-06	1	1	0	A	194154501	C	A	194154501	5	1	81	1	0	0	0	0	0	0	1	0	1124	695	24	4	1487	4	ATP13A3	3	194154501	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	37045	194154501	3867929	3579	7195											
ATP13A3	79572	broad.mit.edu	37	3	194159674	194159674	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:194159674T>A	ENST00000439040.1	-	17	2529	c.1738A>T	c.(1738-1740)Aca>Tca	p.T580S	ATP13A3_ENST00000256031.4_Missense_Mutation_p.T580S			Q9H7F0	AT133_HUMAN	ATPase type 13A3	580					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	24	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)		TGAAGTGCTGTTTCTTCTTCA	0.383													28	45					0	0	1	0	0	A	194159674	T	A	194159674	3	1	81	1	0	0	0	0	1	0	0	0	1124	1725	60	5	2010	5	ATP13A3	3	194159674	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	5173	194159674	3862756	3580	7196											
ATP13A3	79572	broad.mit.edu	37	3	194162084	194162084	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:194162084A>T	ENST00000439040.1	-	16	2457	c.1666T>A	c.(1666-1668)Tct>Act	p.S556T	ATP13A3_ENST00000256031.4_Missense_Mutation_p.S556T			Q9H7F0	AT133_HUMAN	ATPase type 13A3	556					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	24	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)		GGATCACCAGAGAGCACTCCT	0.323													8	67					0	0	1	0	0	T	194162084	A	T	194162084	3	4	81	1	0	0	0	0	1	0	0	0	1124	304	11	5	2086	5	ATP13A3	3	194162084	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	2410	194162084	3860346	3581	7197											
ACAP2	23527	broad.mit.edu	37	3	195017950	195017950	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:195017950delT	ENST00000326793.6	-	16	1686	c.1456delA	c.(1456-1458)atgfs	p.M486fs		NM_012287.5	NP_036419.3	Q15057	ACAP2_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 2	486	Arf-GAP.				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	27						TTTATTCCCATTTTTTCCACA	0.313													9	123	---	---	---	---						-	195017950	T	-	195017950	7	5	81	1	0	1	0	1	0	0	0	0	119	1493	52	0	912	0	ACAP2	3	195017950	Frame_Shift_Del	DEL	T	TCGA-DU-6392-01A-11D-1705-08	855866	195017950	3004480	3582	7198											
ACAP2	23527	broad.mit.edu	37	3	195022730	195022730	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:195022730G>A	ENST00000326793.6	-	14	1520	c.1290C>T	c.(1288-1290)ggC>ggT	p.G430G		NM_012287.5	NP_036419.3	Q15057	ACAP2_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 2	430	Arf-GAP.				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	27						ACAAGGTGATGCCCAGGTTGA	0.527													59	73					0	0	1	0	0	A	195022730	G	A	195022730	2	1	81	1	0	0	0	0	0	0	0	1	119	1306	46	2		2	ACAP2	3	195022730	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	4780	195022730	2999700	3583	7199											
ACAP2	23527	broad.mit.edu	37	3	195022752	195022752	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:195022752C>T	ENST00000326793.6	-	14	1498	c.1268G>A	c.(1267-1269)cGg>cAg	p.R423Q		NM_012287.5	NP_036419.3	Q15057	ACAP2_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 2	423	Arf-GAP.				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	27						GCTGGCCCACCGTGGATCTGC	0.527													6	141					0	0	1	0	0	T	195022752	C	T	195022752	3	4	81	1	0	0	0	0	1	0	0	0	119	652	23	1	1108	1	ACAP2	3	195022752	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	22	195022752	2999678	3584	7200											
ACAP2	23527	broad.mit.edu	37	3	195053834	195053834	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:195053834C>T	ENST00000326793.6	-	8	822	c.592G>A	c.(592-594)Gcc>Acc	p.A198T		NM_012287.5	NP_036419.3	Q15057	ACAP2_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 2	198	BAR.				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	27						GCCAAATGGGCATACATAAAT	0.313													4	42					0	0	1	0	0	T	195053834	C	T	195053834	3	4	81	1	0	0	0	0	1	0	0	0	119	710	25	2	1808	2	ACAP2	3	195053834	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	31082	195053834	2968596	3585	7201											
PPP1R2	5504	broad.mit.edu	37	3	195256664	195256664	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:195256664G>A	ENST00000328432.3	-	2	521	c.161C>T	c.(160-162)gCg>gTg	p.A54V		NM_006241.4	NP_006232.1	P41236	IPP2_HUMAN	protein phosphatase 1, regulatory (inhibitor) subunit 2	54	Required for binding PPP1CC (By similarity).				glycogen metabolic process|regulation of phosphoprotein phosphatase activity|regulation of signal transduction		protein binding|protein serine/threonine phosphatase inhibitor activity			endometrium(2)|kidney(1)|large_intestine(1)|urinary_tract(2)	6	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)		Epithelial(36;2.64e-22)|all cancers(36;2.69e-20)|OV - Ovarian serous cystadenocarcinoma(49;3.52e-19)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;9.55e-05)		ATGATACGTCGCCAAGATGTT	0.353													27	62					0	0	1	0	0	A	195256664	G	A	195256664	3	1	81	1	0	0	0	0	1	0	0	0	12419	1087	38	1	476	1	PPP1R2	3	195256664	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	202830	195256664	2765766	3586	7202											
APOD	347	broad.mit.edu	37	3	195300836	195300836	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:195300836C>T	ENST00000343267.3	-	3	491	c.130G>A	c.(130-132)Gga>Aga	p.G44R		NM_001647.3	NP_001638.1	P05090	APOD_HUMAN	apolipoprotein D	44					lipid metabolic process	extracellular space	lipid binding|lipid transporter activity|protein binding			breast(1)|endometrium(1)|large_intestine(1)|lung(1)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	9	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)	Lung NSC(153;0.191)	Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;1.66e-05)		TACCATCTTCCGAGATACTGC	0.498													23	27					0	0	1	0	0	T	195300836	C	T	195300836	3	4	81	1	0	0	0	0	1	0	0	0	798	661	23	1	451	1	APOD	3	195300836	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	44172	195300836	2721594	3587	7203											
MUC20	200958	broad.mit.edu	37	3	195453068	195453068	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:195453068G>T	ENST00000320736.6	+	3	1207	c.1081G>T	c.(1081-1083)Gaa>Taa	p.E361*	MUC20_ENST00000447234.2_Nonsense_Mutation_p.E532*|MUC20_ENST00000445522.2_Nonsense_Mutation_p.E497*|MUC20_ENST00000436408.1_Nonsense_Mutation_p.E532*			Q8N307	MUC20_HUMAN	mucin 20, cell surface associated	532	12 X 20 AA approximate tandem repeats of S-S-E-S-S-A-S-S-D-S-P-H-P-V-I-T-P-S-R-A.|Ser-rich.		Missing.		protein homooligomerization	apical plasma membrane|basal plasma membrane|extracellular region|microvillus membrane				NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)	23	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)	Lung NSC(153;0.191)	Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;1.66e-05)		TCCCCTTGAAGAAACCTCAGC	0.562													6	12					0.00116845	0.00124301	1	1	0	T	195453068	G	T	195453068	4	4	81	1	0	0	0	0	0	1	0	0	10024	943	33	4	1091	4	MUC20	3	195453068	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	152232	195453068	2569362	3588	7204											
MUC4	4585	broad.mit.edu	37	3	195474116	195474116	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:195474116G>T	ENST00000463781.3	-	25	16629	c.16170C>A	c.(16168-16170)gtC>gtA	p.V5390V	MUC4_ENST00000346145.4_Silent_p.V1154V|MUC4_ENST00000349607.4_Silent_p.V1103V|MUC4_ENST00000475231.1_Silent_p.V5338V	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	2147					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		AGAAGCGCAGGACCACGAACG	0.612													8	132					0.000157383	0.000171784	1	1	0	T	195474116	G	T	195474116	2	4	81	1	0	0	0	0	0	0	0	1	10026	1161	41	5		5	MUC4	3	195474116	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	21048	195474116	2548314	3589	7205											
MUC4	4585	broad.mit.edu	37	3	195480103	195480103	+	Splice_Site	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:195480103T>C	ENST00000463781.3	-	20	15788		c.e20-2		MUC4_ENST00000346145.4_Splice_Site|MUC4_ENST00000349607.4_Splice_Site|MUC4_ENST00000475231.1_Splice_Site	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated						cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		TCCCCAGAGCTGCAGAGTGAG	0.612													25	59					0	0	1	0	0	C	195480103	T	C	195480103	5	2	81	1	0	0	0	0	0	0	1	0	10026	1594	55	3	935	3	MUC4	3	195480103	Splice_Site	SNP	T	TCGA-DU-6392-01A-11D-1705-08	5987	195480103	2542327	3590	7206											
MUC4	4585	broad.mit.edu	37	3	195487873	195487873	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:195487873G>T	ENST00000463781.3	-	16	15189	c.14730C>A	c.(14728-14730)atC>atA	p.I4910I	MUC4_ENST00000346145.4_Silent_p.I674I|MUC4_ENST00000349607.4_Silent_p.I623I|MUC4_ENST00000475231.1_Silent_p.I4858I	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	1667					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		CACAGTTGGAGATCAAATGTT	0.512													30	57					4.15321e-07	4.83186e-07	1	1	0	T	195487873	G	T	195487873	2	4	81	1	0	0	0	0	0	0	0	1	10026	932	33	4		4	MUC4	3	195487873	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	7770	195487873	2534557	3591	7207											
MUC4	4585	broad.mit.edu	37	3	195515494	195515494	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:195515494G>A	ENST00000463781.3	-	2	3416	c.2957C>T	c.(2956-2958)tCc>tTc	p.S986F	MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.S986F	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	991	Ser-rich.				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GTGACCTGTGGATGCCGAGGA	0.577													7	9					0	0	1	0	0	A	195515494	G	A	195515494	3	1	81	1	0	0	0	0	1	0	0	0	10026	1174	41	2		2	MUC4	3	195515494	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	27621	195515494	2506936	3592	7208											
MUC4	4585	broad.mit.edu	37	3	195515893	195515893	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:195515893C>T	ENST00000463781.3	-	2	3017	c.2558G>A	c.(2557-2559)aGt>aAt	p.S853N	MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.S853N	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	858	Ser-rich.				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GGCACCATGACTGGCTGAGGC	0.567													6	34					0	0	1	0	0	T	195515893	C	T	195515893	3	4	81	1	0	0	0	0	1	0	0	0	10026	565	20	2		2	MUC4	3	195515893	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	399	195515893	2506537	3593	7209											
MUC4	4585	broad.mit.edu	37	3	195516511	195516511	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:195516511T>C	ENST00000463781.3	-	2	2399	c.1940A>G	c.(1939-1941)cAa>cGa	p.Q647R	MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.Q647R	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	652					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		TTGTGATTCTTGTGTGGTCTG	0.532													57	93					0	0	1	0	0	C	195516511	T	C	195516511	3	2	81	1	0	0	0	0	1	0	0	0	10026	1812	63	3		3	MUC4	3	195516511	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	618	195516511	2505919	3594	7210											
MUC4	4585	broad.mit.edu	37	3	195517305	195517305	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:195517305A>G	ENST00000463781.3	-	2	1605	c.1146T>C	c.(1144-1146)agT>agC	p.S382S	MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Silent_p.S382S	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	387					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		TATTGCTGACACTGGAAGGGG	0.453													55	87					0	0	1	0	0	G	195517305	A	G	195517305	2	3	81	1	0	0	0	0	0	0	0	1	10026	156	6	3		3	MUC4	3	195517305	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	794	195517305	2505125	3595	7211											
MUC4	4585	broad.mit.edu	37	3	195518259	195518259	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:195518259C>T	ENST00000463781.3	-	2	651	c.192G>A	c.(190-192)agG>agA	p.R64R	MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Silent_p.R64R	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	64					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GATTAGAGGTCCTTGAAGAAG	0.488													53	113					0	0	1	0	0	T	195518259	C	T	195518259	2	4	81	1	0	0	0	0	0	0	0	1	10026	854	30	2		2	MUC4	3	195518259	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	954	195518259	2504171	3596	7212											
MUC4	4585	broad.mit.edu	37	3	195538617	195538617	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:195538617A>G	ENST00000463781.3	-	1	531	c.72T>C	c.(70-72)caT>caC	p.H24H	MUC4_ENST00000346145.4_Silent_p.H24H|MUC4_ENST00000349607.4_Silent_p.H24H|MUC4_ENST00000475231.1_Silent_p.H24H|MUC4_ENST00000478685.1_5'UTR	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	24					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		CTGGGACCACATGCGGAAGGA	0.642													7	79					0	0	1	0	0	G	195538617	A	G	195538617	2	3	81	1	0	0	0	0	0	0	0	1	10026	214	8	3		3	MUC4	3	195538617	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	20358	195538617	2483813	3597	7213											
ZDHHC19	131540	broad.mit.edu	37	3	195925736	195925736	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:195925736G>T	ENST00000296326.3	-	6	776	c.697C>A	c.(697-699)Ctt>Att	p.L233I		NM_001039617.1	NP_001034706.1	Q8WVZ1	ZDH19_HUMAN	zinc finger, DHHC-type containing 19	233						integral to membrane	acyltransferase activity|zinc ion binding			breast(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(7)|ovary(3)	14	all_cancers(143;1.68e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.89e-25)|all cancers(36;1.46e-23)|OV - Ovarian serous cystadenocarcinoma(49;2.1e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0022)		TATCCCTGAAGGTGTCTGCAC	0.587													25	31					4.7796e-09	5.73439e-09	1	1	0	T	195925736	G	T	195925736	3	4	81	1	0	0	0	0	1	0	0	0	17667	1000	35	4	240	4	ZDHHC19	3	195925736	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	387119	195925736	2096694	3598	7214											
TM4SF19	116211	broad.mit.edu	37	3	196050709	196050709	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:196050709G>T	ENST00000446879.1	-	5	730	c.605C>A	c.(604-606)tCt>tAt	p.S202Y	TM4SF19-AS1_ENST00000444939.1_RNA|TM4SF19-AS1_ENST00000452051.1_RNA|TM4SF19_ENST00000442633.1_Missense_Mutation_p.F203L|TM4SF19_ENST00000273695.3_Missense_Mutation_p.F203L|TM4SF19_ENST00000454715.1_Missense_Mutation_p.F177L			Q96DZ7	T4S19_HUMAN	transmembrane 4 L six family member 19	0						integral to membrane				endometrium(2)|kidney(2)|large_intestine(3)|lung(5)	12	all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;3.94e-24)|all cancers(36;4.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.53e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00314)		AGAGGCTGCAGAAAAGGCCCA	0.537													19	40					4.35082e-09	5.22652e-09	1	1	0	T	196050709	G	T	196050709	3	4	81	1	0	0	0	0	1	0	0	0	16028	933	33	4	24	4	TM4SF19	3	196050709	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	124973	196050709	1971721	3599	7215											
TM4SF19	116211	broad.mit.edu	37	3	196051280	196051280	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:196051280G>A	ENST00000446879.1	-	4	436	c.311C>T	c.(310-312)gCt>gTt	p.A104V	TM4SF19-AS1_ENST00000452051.1_RNA|TM4SF19_ENST00000442633.1_Missense_Mutation_p.A104V|TM4SF19_ENST00000273695.3_Missense_Mutation_p.A104V|TM4SF19_ENST00000454715.1_Missense_Mutation_p.A78V			Q96DZ7	T4S19_HUMAN	transmembrane 4 L six family member 19	104						integral to membrane				endometrium(2)|kidney(2)|large_intestine(3)|lung(5)	12	all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;3.94e-24)|all cancers(36;4.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.53e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00314)		TCCAAGTAAAGCCAGGCCACC	0.517													16	25					0	0	1	0	0	A	196051280	G	A	196051280	3	1	81	1	0	0	0	0	1	0	0	0	16028	971	34	2	326	2	TM4SF19	3	196051280	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	571	196051280	1971150	3600	7216											
TM4SF19	116211	broad.mit.edu	37	3	196053893	196053893	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:196053893G>A	ENST00000446879.1	-	3	337	c.212C>T	c.(211-213)gCa>gTa	p.A71V	TM4SF19_ENST00000442633.1_Missense_Mutation_p.A71V|TM4SF19_ENST00000273695.3_Missense_Mutation_p.A71V|TM4SF19_ENST00000454715.1_Intron			Q96DZ7	T4S19_HUMAN	transmembrane 4 L six family member 19	71						integral to membrane				endometrium(2)|kidney(2)|large_intestine(3)|lung(5)	12	all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;3.94e-24)|all cancers(36;4.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.53e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00314)		GAGGATAGCTGCAGTGAGTAC	0.532													7	17					0	0	1	0	0	A	196053893	G	A	196053893	3	1	81	1	0	0	0	0	1	0	0	0	16028	1319	46	2	429	2	TM4SF19	3	196053893	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2613	196053893	1968537	3601	7217											
UBXN7	26043	broad.mit.edu	37	3	196089299	196089299	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:196089299G>A	ENST00000296328.4	-	9	1168	c.1094C>T	c.(1093-1095)cCg>cTg	p.P365L	UBXN7_ENST00000428095.1_Missense_Mutation_p.P203L|UBXN7_ENST00000535858.1_Missense_Mutation_p.P217L	NM_015562.1	NP_056377.1	O94888	UBXN7_HUMAN	UBX domain protein 7	365							protein binding			NS(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	18						CTCAGTCAGCGGCCTTCTATT	0.483													36	59					0	0	1	0	0	A	196089299	G	A	196089299	3	1	81	1	0	0	0	0	1	0	0	0	16978	1116	39	1	387	1	UBXN7	3	196089299	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	35406	196089299	1933131	3602	7218											
PIGX	54965	broad.mit.edu	37	3	196454886	196454886	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:196454886G>T	ENST00000314118.4	+	4	570	c.288G>T	c.(286-288)caG>caT	p.Q96H	PIGX_ENST00000541663.1_Missense_Mutation_p.Q29H|PIGX_ENST00000421265.1_Missense_Mutation_p.Q96H	NM_017861.3	NP_060331.3	Q8TBF5	PIGX_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class X	137					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane				endometrium(1)|large_intestine(5)|lung(4)|stomach(1)	11	all_cancers(143;1.41e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.07e-23)|all cancers(36;1.08e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00322)		GAGATTCACAGTGCATTGACT	0.448													4	112					5.9392e-07	6.87481e-07	1	1	0	T	196454886	G	T	196454886	3	4	81	1	0	0	0	0	1	0	0	0	11951	1020	36	4	425	4	PIGX	3	196454886	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	365587	196454886	1567544	3603	7219											
NCBP2	22916	broad.mit.edu	37	3	196663927	196663927	+	Silent	SNP	G	G	A	rs151326192		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:196663927G>A	ENST00000447325.1	-	4	565	c.216C>T	c.(214-216)taC>taT	p.Y72Y	NCBP2_ENST00000452404.2_Silent_p.Y124Y|NCBP2_ENST00000422610.1_Silent_p.Y72Y|NCBP2_ENST00000427641.2_Silent_p.Y89Y|NCBP2_ENST00000321256.5_Silent_p.Y142Y|NCBP2_ENST00000467803.1_5'UTR			P52298	NCBP2_HUMAN	nuclear cap binding protein subunit 2, 20kDa	142	RRM.				gene silencing by RNA|histone mRNA metabolic process|mRNA 3'-end processing|mRNA capping|mRNA export from nucleus|ncRNA metabolic process|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of RNA export from nucleus|positive regulation of viral transcription|regulation of translational initiation|snRNA export from nucleus|spliceosomal snRNP assembly|termination of RNA polymerase II transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	cytosol|mRNA cap binding complex|nucleoplasm	nucleotide binding|protein binding|RNA 7-methylguanosine cap binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	5	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;3.42e-24)|all cancers(36;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(49;4.13e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00551)		TCCCAGCATCGTAGTCCTGCC	0.453													35	49					0	0	1	0	0	A	196663927	G	A	196663927	2	1	81	1	0	0	0	0	0	0	0	1	10259	1140	40	1		1	NCBP2	3	196663927	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	209041	196663927	1358503	3604	7220											
MFI2	4241	broad.mit.edu	37	3	196751283	196751283	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:196751283G>A	ENST00000296350.5	-	4	491	c.378C>T	c.(376-378)ggC>ggT	p.G126G	MFI2_ENST00000296351.4_Silent_p.G126G	NM_005929.5	NP_005920.2	P08582	TRFM_HUMAN	antigen p97 (melanoma associated) identified by monoclonal antibodies 133.2 and 96.5	126	Transferrin-like 1.				cellular iron ion homeostasis|iron ion transport	anchored to membrane|extracellular region|integral to plasma membrane	ferric iron binding|protein binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(1)	20	all_cancers(143;3.95e-09)|Ovarian(172;0.0634)|Breast(254;0.0838)		Epithelial(36;4.55e-24)|all cancers(36;2.87e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00536)		AGGACTTCACGCCTTTCAGGG	0.637													18	40					0	0	1	0	0	A	196751283	G	A	196751283	2	1	81	1	0	0	0	0	0	0	0	1	9572	1074	38	1		1	MFI2	3	196751283	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	87356	196751283	1271147	3605	7221											
DLG1	1739	broad.mit.edu	37	3	196857544	196857545	+	Splice_Site	INS	-	-	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:196857544_196857545insA	ENST00000346964.2	-	12	1309		c.e12-2		DLG1_ENST00000443183.1_Splice_Site|DLG1_ENST00000448528.2_Splice_Site|DLG1_ENST00000357674.4_Splice_Site|DLG1_ENST00000314062.3_Splice_Site|DLG1_ENST00000450955.1_Splice_Site|DLG1_ENST00000392382.2_Splice_Site|DLG1_ENST00000422288.1_Splice_Site|DLG1_ENST00000452595.1_Splice_Site|DLG1_ENST00000419354.1_Splice_Site	NM_004087.2	NP_004078.2	Q12959	DLG1_HUMAN	discs, large homolog 1 (Drosophila)						actin filament organization|axon guidance|cell-cell adhesion|cortical actin cytoskeleton organization|endothelial cell proliferation|establishment or maintenance of cell polarity|interspecies interaction between organisms|mitotic cell cycle G1/S transition checkpoint|negative regulation of mitotic cell cycle|protein localization in plasma membrane|synaptic transmission|tight junction assembly	basolateral plasma membrane|cytosol|endoplasmic reticulum membrane|immunological synapse|MPP7-DLG1-LIN7 complex|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|tight junction	cytoskeletal protein binding|guanylate kinase activity|L27 domain binding|phosphatase binding|phosphoprotein phosphatase activity|potassium channel regulator activity|protein binding|protein C-terminus binding|protein kinase binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(143;6.22e-10)|Ovarian(172;0.0418)|Breast(254;0.0589)	Lung NSC(153;0.133)	Epithelial(36;3.23e-24)|all cancers(36;2.15e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0148)		GTTATTCACCTAAAAAAAGTCC	0.332													22	36	---	---	---	---						A	196857545	-	A	196857544	8	5	81	1	0	1	1	0	0	0	1	0	4582	1536	53	0	1760	0	DLG1	3	196857544	Splice_Site	INS	-	TCGA-DU-6392-01A-11D-1705-08	106261	196857544	1164886	3606	7222											
BDH1	622	broad.mit.edu	37	3	197249573	197249573	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:197249573C>T	ENST00000392379.1	-	6	748	c.347G>A	c.(346-348)aGc>aAc	p.S116N	BDH1_ENST00000392378.2_Missense_Mutation_p.S116N|BDH1_ENST00000358186.2_Missense_Mutation_p.S116N|BDH1_ENST00000441275.1_Missense_Mutation_p.S29N	NM_203314.2	NP_976059.1	Q02338	BDH_HUMAN	3-hydroxybutyrate dehydrogenase, type 1	116				CS -> FR (in Ref. 1; AAA58352).	cellular lipid metabolic process|ketone body biosynthetic process|ketone body catabolic process	mitochondrial matrix	3-hydroxybutyrate dehydrogenase activity			endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)	11	all_cancers(143;3.35e-10)|Ovarian(172;0.0418)|Breast(254;0.0437)	Lung NSC(153;0.118)	Epithelial(36;3.52e-24)|all cancers(36;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;2.32e-19)|LUSC - Lung squamous cell carcinoma(58;1.02e-06)|Lung(62;1.34e-06)	GBM - Glioblastoma multiforme(93;0.0977)	NADH(DB00157)	CTCTTCGCTGCTGCAGACATT	0.582													20	34					0	0	1	0	0	T	197249573	C	T	197249573	3	4	81	1	0	0	0	0	1	0	0	0	1388	797	28	2	696	2	BDH1	3	197249573	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	392029	197249573	772857	3607	7223											
KIAA0226	9711	broad.mit.edu	37	3	197402330	197402330	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:197402330G>T	ENST00000273582.5	-	20	3113	c.2568C>A	c.(2566-2568)atC>atA	p.I856I	KIAA0226_ENST00000296343.5_Silent_p.I901I	NM_001145642.2	NP_001139114.1	Q92622	RUBIC_HUMAN	KIAA0226	901					autophagy|endocytosis|negative regulation of autophagy|negative regulation of endocytosis	early endosome|late endosome|lysosome	protein binding			NS(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)		CAAAGGGAAAGATGATGTCAT	0.537													15	163					0.000566183	0.000611251	1	1	0	T	197402330	G	T	197402330	2	4	81	1	0	0	0	0	0	0	0	1	8204	932	33	4		4	KIAA0226	3	197402330	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	152757	197402330	620100	3608	7224											
KIAA0226	9711	broad.mit.edu	37	3	197430514	197430514	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:197430514G>T	ENST00000273582.5	-	5	840	c.295C>A	c.(295-297)Ctg>Atg	p.L99M	KIAA0226_ENST00000389665.5_Missense_Mutation_p.L159M|KIAA0226_ENST00000467303.1_5'UTR|KIAA0226_ENST00000449205.1_Missense_Mutation_p.L159M|KIAA0226_ENST00000296343.5_Missense_Mutation_p.L159M	NM_001145642.2	NP_001139114.1	Q92622	RUBIC_HUMAN	KIAA0226	159	RUN.				autophagy|endocytosis|negative regulation of autophagy|negative regulation of endocytosis	early endosome|late endosome|lysosome	protein binding			NS(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)		TCACTTAGCAGGAAGGCAGCA	0.562													3	20					1	1	1	1	0	T	197430514	G	T	197430514	3	4	81	1	0	0	0	0	1	0	0	0	8204	991	35	4	2556	4	KIAA0226	3	197430514	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	28184	197430514	591916	3609	7225											
KIAA0226	9711	broad.mit.edu	37	3	197444953	197444953	+	Silent	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:197444953A>C	ENST00000389665.5	-	2	296	c.114T>G	c.(112-114)ggT>ggG	p.G38G	KIAA0226_ENST00000467303.1_Intron|KIAA0226_ENST00000273582.5_5'UTR|KIAA0226_ENST00000449205.1_Silent_p.G38G|KIAA0226_ENST00000296343.5_Silent_p.G38G			Q92622	RUBIC_HUMAN	KIAA0226	38					autophagy|endocytosis|negative regulation of autophagy|negative regulation of endocytosis	early endosome|late endosome|lysosome	protein binding			NS(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)		TTGATACCAAACCCTCCACCG	0.522													13	37					0	0	1	0	0	C	197444953	A	C	197444953	2	2	81	1	0	0	0	0	0	0	0	1	8204	30	2	5		5	KIAA0226	3	197444953	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	14439	197444953	577477	3610	7226	31	2									
KIAA0226	9711	broad.mit.edu	37	3	197444963	197444963	+	Translation_Start_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:197444963G>A	ENST00000273582.5	-	0	469				KIAA0226_ENST00000389665.5_Missense_Mutation_p.T35M|KIAA0226_ENST00000467303.1_Intron|KIAA0226_ENST00000449205.1_Missense_Mutation_p.T35M|KIAA0226_ENST00000296343.5_Missense_Mutation_p.T35M	NM_001145642.2	NP_001139114.1	Q92622	RUBIC_HUMAN	KIAA0226						autophagy|endocytosis|negative regulation of autophagy|negative regulation of endocytosis	early endosome|late endosome|lysosome	protein binding			NS(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)		ACCCTCCACCGTCGTCTTCAA	0.512													28	23					0	0	1	0	0	A	197444963	G	A	197444963	1	1	81	1	0	0	0	0	0	0	0	0	8204	1145	40	1		1	KIAA0226	3	197444963	Translation_Start_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	10	197444963	577467	3611	7227	31	2									
LRCH3	84859	broad.mit.edu	37	3	197559185	197559185	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:197559185G>A	ENST00000438796.2	+	8	1143	c.1099G>A	c.(1099-1101)Gga>Aga	p.G367R	LRCH3_ENST00000414675.2_Missense_Mutation_p.G367R|LRCH3_ENST00000536618.1_5'UTR|LRCH3_ENST00000441090.2_Missense_Mutation_p.G241R|LRCH3_ENST00000425562.2_Missense_Mutation_p.G367R|LRCH3_ENST00000334859.4_Missense_Mutation_p.G367R			Q96II8	LRCH3_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 3	367						extracellular region				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;4.82e-24)|all cancers(36;3.61e-22)|OV - Ovarian serous cystadenocarcinoma(49;7.08e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.119)		AACAAACGGCGGAGGTAAACA	0.408													3	38					0	0	1	0	0	A	197559185	G	A	197559185	3	1	81	1	0	0	0	0	1	0	0	0	8979	1117	39	1	1129	1	LRCH3	3	197559185	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	114222	197559185	463245	3612	7228											
LMLN	89782	broad.mit.edu	37	3	197702952	197702952	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:197702952G>A	ENST00000330198.4	+	4	423	c.401G>A	c.(400-402)cGt>cAt	p.R134H	LMLN_ENST00000420910.2_Missense_Mutation_p.R134H|LMLN_ENST00000482695.1_Missense_Mutation_p.R82H|LMLN_ENST00000332636.5_Missense_Mutation_p.R82H	NM_033029.3	NP_149018.2	Q96KR4	LMLN_HUMAN	leishmanolysin-like (metallopeptidase M8 family)	134					cell adhesion|cell division|mitosis|proteolysis	cytoplasm|membrane	metalloendopeptidase activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)	Lung NSC(153;0.132)	Epithelial(36;9.84e-24)|all cancers(36;3.18e-22)|OV - Ovarian serous cystadenocarcinoma(49;5.35e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.111)		TTTCAGGTCCGTCGACCTGCG	0.363													19	13					0	0	1	0	0	A	197702952	G	A	197702952	3	1	81	1	0	0	0	0	1	0	0	0	8888	1145	40	1	415	1	LMLN	3	197702952	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	143767	197702952	319478	3613	7229											
LMLN	89782	broad.mit.edu	37	3	197762722	197762722	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:197762722G>T	ENST00000330198.4	+	15	1697	c.1675G>T	c.(1675-1677)Ggt>Tgt	p.G559C	LMLN_ENST00000420910.2_Missense_Mutation_p.G596C|LMLN_ENST00000482695.1_Missense_Mutation_p.G544C|LMLN_ENST00000332636.5_Missense_Mutation_p.G507C	NM_033029.3	NP_149018.2	Q96KR4	LMLN_HUMAN	leishmanolysin-like (metallopeptidase M8 family)	559					cell adhesion|cell division|mitosis|proteolysis	cytoplasm|membrane	metalloendopeptidase activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)	Lung NSC(153;0.132)	Epithelial(36;9.84e-24)|all cancers(36;3.18e-22)|OV - Ovarian serous cystadenocarcinoma(49;5.35e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.111)		TTCTCCTCAAGGTCTGAAAGT	0.383													7	86					1	1	1	1	0	T	197762722	G	T	197762722	3	4	81	1	0	0	0	0	1	0	0	0	8888	1000	35	4	1848	4	LMLN	3	197762722	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	59770	197762722	259708	3614	7230											
ZNF721	170960	broad.mit.edu	37	4	437125	437125	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:437125A>G	ENST00000338977.5	-	2	1143	c.1095T>C	c.(1093-1095)aaT>aaC	p.N365N	ZNF721_ENST00000506646.1_Intron|ZNF721_ENST00000511833.2_Silent_p.N377N|ZNF721_ENST00000507078.1_Intron|ABCA11P_ENST00000451020.2_RNA					zinc finger protein 721											endometrium(2)|kidney(2)|large_intestine(15)|lung(6)|ovary(1)|skin(1)|stomach(5)|urinary_tract(1)	33						TCTTGTGTTGATTCAGGGCTG	0.408													19	40					0	0	1	0	0	G	437125	A	G	437125	2	3	81	1	0	0	0	0	0	0	0	1	18176	330	12	3		3	ZNF721	4	437125	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08		437125	190717151	3615	7231											
ZNF721	170960	broad.mit.edu	37	4	438011	438011	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:438011T>C	ENST00000338977.5	-	2	257	c.209A>G	c.(208-210)cAa>cGa	p.Q70R	ZNF721_ENST00000506646.1_Intron|ZNF721_ENST00000511833.2_Missense_Mutation_p.Q82R|ZNF721_ENST00000507078.1_Intron|ABCA11P_ENST00000451020.2_RNA					zinc finger protein 721											endometrium(2)|kidney(2)|large_intestine(15)|lung(6)|ovary(1)|skin(1)|stomach(5)|urinary_tract(1)	33						TGCATTACATTGAAATATTTT	0.318													6	68					0	0	1	0	0	C	438011	T	C	438011	3	2	81	1	0	0	0	0	1	0	0	0	18176	1812	63	3	2530	3	ZNF721	4	438011	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	886	438011	190716265	3616	7232											
PIGG	54872	broad.mit.edu	37	4	515627	515627	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:515627C>T	ENST00000453061.2	+	8	1617	c.1511C>T	c.(1510-1512)tCg>tTg	p.S504L	PIGG_ENST00000383028.4_Missense_Mutation_p.S371L|PIGG_ENST00000509768.1_Missense_Mutation_p.S415L|PIGG_ENST00000504346.1_Missense_Mutation_p.S415L|PIGG_ENST00000310340.5_Missense_Mutation_p.S496L|PIGG_ENST00000536264.1_3'UTR|PIGG_ENST00000503111.1_3'UTR|PIGG_ENST00000296306.7_3'UTR	NM_001127178.1	NP_001120650.1	Q5H8A4	PIGG_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class G	504					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	CP2 mannose-ethanolamine phosphotransferase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	39						TGTGGCCTCTCGTGGCTGGCG	0.562													5	43					0	0	1	0	0	T	515627	C	T	515627	3	4	81	1	0	0	0	0	1	0	0	0	11936	893	31	1	1541	1	PIGG	4	515627	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	77616	515627	190638649	3617	7233											
PDE6B	5158	broad.mit.edu	37	4	619547	619547	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:619547C>T	ENST00000255622.6	+	1	175	c.132C>T	c.(130-132)tgC>tgT	p.C44C	PDE6B_ENST00000496514.1_Silent_p.C44C	NM_000283.3|NM_001145291.1	NP_000274.2|NP_001138763	P35913	PDE6B_HUMAN	phosphodiesterase 6B, cGMP-specific, rod, beta	44					cytosolic calcium ion homeostasis|GMP metabolic process|phototransduction, visible light|platelet activation|visual perception	cytosol|membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30						CGCCGGACTGCGACAGCCTCC	0.632													18	20					0	0	1	0	0	T	619547	C	T	619547	2	4	81	1	0	0	0	0	0	0	0	1	11693	776	27	1		1	PDE6B	4	619547	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	103920	619547	190534729	3618	7234											
PDE6B	5158	broad.mit.edu	37	4	651256	651256	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:651256C>T	ENST00000255622.6	+	10	1417	c.1374C>T	c.(1372-1374)tgC>tgT	p.C458C	PDE6B_ENST00000429163.2_Silent_p.C179C|PDE6B_ENST00000496514.1_Silent_p.C458C	NM_000283.3|NM_001145291.1	NP_000274.2|NP_001138763	P35913	PDE6B_HUMAN	phosphodiesterase 6B, cGMP-specific, rod, beta	458					cytosolic calcium ion homeostasis|GMP metabolic process|phototransduction, visible light|platelet activation|visual perception	cytosol|membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30						ACGTGAAGTGCGACAGGGACG	0.617													19	41					0	0	1	0	0	T	651256	C	T	651256	2	4	81	1	0	0	0	0	0	0	0	1	11693	776	27	1		1	PDE6B	4	651256	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	31709	651256	190503020	3619	7235											
PDE6B	5158	broad.mit.edu	37	4	652779	652779	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:652779C>T	ENST00000255622.6	+	11	1483	c.1440C>T	c.(1438-1440)tgC>tgT	p.C480C	PDE6B_ENST00000429163.2_Silent_p.C201C|PDE6B_ENST00000496514.1_Silent_p.C480C	NM_000283.3|NM_001145291.1	NP_000274.2|NP_001138763	P35913	PDE6B_HUMAN	phosphodiesterase 6B, cGMP-specific, rod, beta	480					cytosolic calcium ion homeostasis|GMP metabolic process|phototransduction, visible light|platelet activation|visual perception	cytosol|membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30						CTGCTGACTGCGATGAGGACG	0.602													8	26					0	0	1	0	0	T	652779	C	T	652779	2	4	81	1	0	0	0	0	0	0	0	1	11693	776	27	1		1	PDE6B	4	652779	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1523	652779	190501497	3620	7236											
PDE6B	5158	broad.mit.edu	37	4	656910	656910	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:656910G>A	ENST00000255622.6	+	15	1897	c.1854G>A	c.(1852-1854)aaG>aaA	p.K618K	PDE6B_ENST00000429163.2_Silent_p.K339K|PDE6B_ENST00000496514.1_Silent_p.K618K	NM_000283.3|NM_001145291.1	NP_000274.2|NP_001138763	P35913	PDE6B_HUMAN	phosphodiesterase 6B, cGMP-specific, rod, beta	618					cytosolic calcium ion homeostasis|GMP metabolic process|phototransduction, visible light|platelet activation|visual perception	cytosol|membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30						CCTTGGCTAAGCTCCACGGCT	0.632													4	39					0	0	1	0	0	A	656910	G	A	656910	2	1	81	1	0	0	0	0	0	0	0	1	11693	962	34	2		2	PDE6B	4	656910	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	4131	656910	190497366	3621	7237											
GAK	2580	broad.mit.edu	37	4	845717	845717	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:845717G>A	ENST00000314167.4	-	25	3439	c.3329C>T	c.(3328-3330)gCc>gTc	p.A1110V	GAK_ENST00000509566.1_5'UTR|GAK_ENST00000511163.1_Missense_Mutation_p.A1031V	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN	cyclin G associated kinase	1110					cell cycle	focal adhesion|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39				Colorectal(103;0.219)		GGGCGTGGTGGCCGTTTTGGG	0.642													9	17					0	0	1	0	0	A	845717	G	A	845717	3	1	81	1	0	0	0	0	1	0	0	0	6235	1203	42	2	622	2	GAK	4	845717	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	188807	845717	190308559	3622	7238											
GAK	2580	broad.mit.edu	37	4	864679	864679	+	Missense_Mutation	SNP	C	C	T	rs140022645	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:864679C>T	ENST00000314167.4	-	19	2178	c.2068G>A	c.(2068-2070)Gcg>Acg	p.A690T	GAK_ENST00000509566.1_5'UTR|GAK_ENST00000511163.1_Missense_Mutation_p.A611T	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN	cyclin G associated kinase	690	C2 tensin-type.				cell cycle	focal adhesion|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39				Colorectal(103;0.219)		ATGTCACACGCGTCCAGGTCA	0.512													19	31					0	0	1	0	0	T	864679	C	T	864679	3	4	81	1	0	0	0	0	1	0	0	0	6235	768	27	1	1907	1	GAK	4	864679	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	18962	864679	190289597	3623	7239											
GAK	2580	broad.mit.edu	37	4	877247	877247	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:877247C>T	ENST00000314167.4	-	13	1370	c.1260G>A	c.(1258-1260)atG>atA	p.M420I	GAK_ENST00000511163.1_Missense_Mutation_p.M341I	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN	cyclin G associated kinase	420	Phosphatase tensin-type.				cell cycle	focal adhesion|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39				Colorectal(103;0.219)		CTGGGAATGACATCACTGAAA	0.602													5	70					0	0	1	0	0	T	877247	C	T	877247	3	4	81	1	0	0	0	0	1	0	0	0	6235	478	17	2	2739	2	GAK	4	877247	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	12568	877247	190277029	3624	7240											
DGKQ	1609	broad.mit.edu	37	4	955517	955517	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:955517C>A	ENST00000273814.3	-	20	2494	c.2421G>T	c.(2419-2421)gaG>gaT	p.E807D		NM_001347.3	NP_001338.2	P52824	DGKQ_HUMAN	diacylglycerol kinase, theta 110kDa	807					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|platelet activation|protein kinase C signaling cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to ATP|thrombin receptor signaling pathway	cytoskeleton|cytosol|nuclear speck|plasma membrane	activating transcription factor binding|ATP binding|diacylglycerol kinase activity|kinase binding|metal ion binding|phospholipase binding			breast(1)|endometrium(2)|kidney(2)|lung(2)|prostate(2)	9			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			TACTGGGCAGCTCCACCTCCT	0.652													5	35					0.217242	0.218703	1	1	0	A	955517	C	A	955517	3	1	81	1	0	0	0	0	1	0	0	0	4501	796	28	4	423	4	DGKQ	4	955517	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	78270	955517	190198759	3625	7241											
FGFRL1	53834	broad.mit.edu	37	4	1018732	1018732	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:1018732C>T	ENST00000398484.2	+	8	1692	c.1112C>T	c.(1111-1113)tCg>tTg	p.S371L	FGFRL1_ENST00000510644.1_Missense_Mutation_p.S371L|FGFRL1_ENST00000504138.1_Missense_Mutation_p.S371L|FGFRL1_ENST00000264748.6_Missense_Mutation_p.S371L			Q8N441	FGRL1_HUMAN	fibroblast growth factor receptor-like 1	371					regulation of cell growth	integral to membrane|plasma membrane	fibroblast growth factor receptor activity|heparin binding			endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	13			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			TCCTCGTCCTCGGCCACTAGC	0.647													14	16					0	0	1	0	0	T	1018732	C	T	1018732	3	4	81	1	0	0	0	0	1	0	0	0	5902	893	31	1	1134	1	FGFRL1	4	1018732	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	63215	1018732	190135544	3626	7242											
FGFRL1	53834	broad.mit.edu	37	4	1018775	1018775	+	Silent	SNP	C	C	T	rs140148549		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:1018775C>T	ENST00000398484.2	+	8	1735	c.1155C>T	c.(1153-1155)gcC>gcT	p.A385A	FGFRL1_ENST00000510644.1_Silent_p.A385A|FGFRL1_ENST00000504138.1_Silent_p.A385A|FGFRL1_ENST00000264748.6_Silent_p.A385A			Q8N441	FGRL1_HUMAN	fibroblast growth factor receptor-like 1	385					regulation of cell growth	integral to membrane|plasma membrane	fibroblast growth factor receptor activity|heparin binding			endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	13			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			GCATCCCAGCCGGCGCTGTCT	0.697													12	16					0	0	1	0	0	T	1018775	C	T	1018775	2	4	81	1	0	0	0	0	0	0	0	1	5902	639	23	1		1	FGFRL1	4	1018775	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	43	1018775	190135501	3627	7243											
SPON2	10417	broad.mit.edu	37	4	1164196	1164196	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:1164196C>T	ENST00000290902.5	-	5	1137	c.805G>A	c.(805-807)Gcc>Acc	p.A269T	SPON2_ENST00000431380.1_Missense_Mutation_p.A269T	NM_012445.3	NP_036577	Q9BUD6	SPON2_HUMAN	spondin 2, extracellular matrix protein	269					axon guidance|cell adhesion|innate immune response	proteinaceous extracellular matrix	metal ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|pancreas(1)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(23;0.00805)	UCEC - Uterine corpus endometrioid carcinoma (64;0.139)|Colorectal(103;0.19)		TTACCTGAGGCGCTGTCTACA	0.617													48	105					0	0	1	0	0	T	1164196	C	T	1164196	3	4	81	1	0	0	0	0	1	0	0	0	15139	768	27	1	198	1	SPON2	4	1164196	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	145421	1164196	189990080	3628	7244											
CTBP1	1487	broad.mit.edu	37	4	1206156	1206156	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:1206156C>A	ENST00000382952.3	-	10	1546	c.1162G>T	c.(1162-1164)Ggt>Tgt	p.G388C	CTBP1_ENST00000290921.6_Missense_Mutation_p.G399C	NM_001012614.1	NP_001012632.1	Q13363	CTBP1_HUMAN	C-terminal binding protein 1	399					interspecies interaction between organisms|negative regulation of cell proliferation|negative regulation of histone H4 acetylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of histone deacetylation|protein phosphorylation|regulation of cell cycle|regulation of transcription by chromatin organization|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|viral genome replication|white fat cell differentiation	cytoplasm|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein C-terminus binding|protein domain specific binding|transcription factor binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|urinary_tract(1)	8			OV - Ovarian serous cystadenocarcinoma(23;0.00818)	Colorectal(103;0.2)		GGGACGATACCTTCCACAGCA	0.711													3	1					0.150653	0.152522	1	1	0	A	1206156	C	A	1206156	3	1	81	1	0	0	0	0	1	0	0	0	4021	681	24	4	131	4	CTBP1	4	1206156	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	41960	1206156	189948120	3629	7245											
CTBP1	1487	broad.mit.edu	37	4	1209931	1209931	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:1209931C>T	ENST00000382952.3	-	6	961	c.577G>A	c.(577-579)Gac>Aac	p.D193N	CTBP1_ENST00000290921.6_Missense_Mutation_p.D204N	NM_001012614.1	NP_001012632.1	Q13363	CTBP1_HUMAN	C-terminal binding protein 1	204					interspecies interaction between organisms|negative regulation of cell proliferation|negative regulation of histone H4 acetylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of histone deacetylation|protein phosphorylation|regulation of cell cycle|regulation of transcription by chromatin organization|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|viral genome replication|white fat cell differentiation	cytoplasm|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein C-terminus binding|protein domain specific binding|transcription factor binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|urinary_tract(1)	8			OV - Ovarian serous cystadenocarcinoma(23;0.00818)	Colorectal(103;0.2)		AAGTAAGGGTCGTAGAAGAGC	0.652													11	7					0	0	1	0	0	T	1209931	C	T	1209931	3	4	81	1	0	0	0	0	1	0	0	0	4021	884	31	1	732	1	CTBP1	4	1209931	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3775	1209931	189944345	3630	7246											
CTBP1	1487	broad.mit.edu	37	4	1232011	1232011	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:1232011G>A	ENST00000510568.1	-	2	713	c.122C>T	c.(121-123)gCc>gTc	p.A41V	CTBP1_ENST00000515690.1_5'UTR|CTBP1_ENST00000290921.6_Missense_Mutation_p.A52V|CTBP1_ENST00000382952.3_Missense_Mutation_p.A41V			Q13363	CTBP1_HUMAN	C-terminal binding protein 1	52	Interaction with GLIS2 1 (By similarity).				interspecies interaction between organisms|negative regulation of cell proliferation|negative regulation of histone H4 acetylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of histone deacetylation|protein phosphorylation|regulation of cell cycle|regulation of transcription by chromatin organization|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|viral genome replication|white fat cell differentiation	cytoplasm|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein C-terminus binding|protein domain specific binding|transcription factor binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|urinary_tract(1)	8			OV - Ovarian serous cystadenocarcinoma(23;0.00818)	Colorectal(103;0.2)		GTCGCAGAAGGCCACAGTGGC	0.657													36	52					0	0	1	0	0	A	1232011	G	A	1232011	3	1	81	1	0	0	0	0	1	0	0	0	4021	1203	42	2	1199	2	CTBP1	4	1232011	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	22080	1232011	189922265	3631	7247											
MAEA	10296	broad.mit.edu	37	4	1316186	1316186	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:1316186G>A	ENST00000303400.4	+	4	537	c.474G>A	c.(472-474)gaG>gaA	p.E158E	MAEA_ENST00000514708.1_Intron|MAEA_ENST00000452175.2_Silent_p.E79E|MAEA_ENST00000505177.2_Silent_p.E158E|MAEA_ENST00000505839.1_Silent_p.E110E|MAEA_ENST00000510794.1_Silent_p.E157E|MAEA_ENST00000264750.6_Intron	NM_001017405.1	NP_001017405.1	Q7L5Y9	MAEA_HUMAN	macrophage erythroblast attacher	158					cell adhesion|cell cycle|cell division|erythrocyte maturation|negative regulation of myeloid cell apoptosis|regulation of mitotic cell cycle	actomyosin contractile ring|integral to plasma membrane|membrane fraction|nuclear matrix|spindle	actin binding			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(23;0.0201)			TGAATATTGAGATGTTCCTGA	0.597													51	83					0	0	1	0	0	A	1316186	G	A	1316186	2	1	81	1	0	0	0	0	0	0	0	1	9199	933	33	2		2	MAEA	4	1316186	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	84175	1316186	189838090	3632	7248											
MAEA	10296	broad.mit.edu	37	4	1332393	1332393	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:1332393C>T	ENST00000303400.4	+	8	1146	c.1083C>T	c.(1081-1083)gtC>gtT	p.V361V	MAEA_ENST00000512289.1_3'UTR|MAEA_ENST00000514708.1_Silent_p.V293V|MAEA_ENST00000452175.2_Silent_p.V282V|MAEA_ENST00000505177.2_Silent_p.V399V|MAEA_ENST00000505839.1_Silent_p.V313V|MAEA_ENST00000510794.1_Silent_p.V360V|MAEA_ENST00000264750.6_Silent_p.V320V	NM_001017405.1	NP_001017405.1	Q7L5Y9	MAEA_HUMAN	macrophage erythroblast attacher	361					cell adhesion|cell cycle|cell division|erythrocyte maturation|negative regulation of myeloid cell apoptosis|regulation of mitotic cell cycle	actomyosin contractile ring|integral to plasma membrane|membrane fraction|nuclear matrix|spindle	actin binding			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(23;0.0201)			ACGGCTACGTCTACGGCTACA	0.662													3	9					0	0	1	0	0	T	1332393	C	T	1332393	2	4	81	1	0	0	0	0	0	0	0	1	9199	900	32	2		2	MAEA	4	1332393	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	16207	1332393	189821883	3633	7249											
CRIPAK	285464	broad.mit.edu	37	4	1389271	1389271	+	Silent	SNP	G	G	A	rs71299249		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:1389271G>A	ENST00000324803.4	+	1	3932	c.972G>A	c.(970-972)acG>acA	p.T324T		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	324					ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus	endoplasmic reticulum|nucleus|plasma membrane	protein binding			NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			CTGCTCACACGTGCCATTGTG	0.667													23	156					0	0	1	0	0	A	1389271	G	A	1389271	2	1	81	1	0	0	0	0	0	0	0	1	3900	1132	40	1		1	CRIPAK	4	1389271	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	56878	1389271	189765005	3634	7250											
TACC3	10460	broad.mit.edu	37	4	1729693	1729693	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:1729693C>A	ENST00000313288.4	+	4	670	c.564C>A	c.(562-564)tcC>tcA	p.S188S		NM_006342.2	NP_006333.1	Q9Y6A5	TACC3_HUMAN	transforming, acidic coiled-coil containing protein 3	188						centrosome				central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	25		Breast(71;0.212)|all_epithelial(65;0.241)	OV - Ovarian serous cystadenocarcinoma(23;0.00765)|Epithelial(3;0.0126)			ACCTTAGTTCCTATTCCTTAG	0.557													7	38					0.248553	0.249876	1	1	0	A	1729693	C	A	1729693	2	1	81	1	0	0	0	0	0	0	0	1	15560	668	24	4		4	TACC3	4	1729693	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	340422	1729693	189424583	3635	7251											
TACC3	10460	broad.mit.edu	37	4	1746548	1746548	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:1746548G>A	ENST00000313288.4	+	15	2546	c.2440G>A	c.(2440-2442)Gtg>Atg	p.V814M		NM_006342.2	NP_006333.1	Q9Y6A5	TACC3_HUMAN	transforming, acidic coiled-coil containing protein 3	814						centrosome				central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	25		Breast(71;0.212)|all_epithelial(65;0.241)	OV - Ovarian serous cystadenocarcinoma(23;0.00765)|Epithelial(3;0.0126)			GGAGAAGACAGTGGAGCAGAA	0.657													4	31					0	0	1	0	0	A	1746548	G	A	1746548	3	1	81	1	0	0	0	0	1	0	0	0	15560	1029	36	2	2494	2	TACC3	4	1746548	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	16855	1746548	189407728	3636	7252											
FGFR3	2261	broad.mit.edu	37	4	1800986	1800986	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:1800986C>A	ENST00000340107.4	+	3	371	c.115C>A	c.(115-117)Ccg>Acg	p.P39T	FGFR3_ENST00000260795.2_Missense_Mutation_p.P39T|FGFR3_ENST00000412135.2_Missense_Mutation_p.P39T|FGFR3_ENST00000440486.2_Missense_Mutation_p.P39T|FGFR3_ENST00000481110.2_Missense_Mutation_p.P39T|FGFR3_ENST00000352904.1_Missense_Mutation_p.P39T	NM_001163213.1	NP_001156685.1	P22607	FGFR3_HUMAN	fibroblast growth factor receptor 3	39	Ig-like C2-type 1.				bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding			NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)	CACAGAAGTCCCGGGCCCAGA	0.682		1	"Mis, T"	"IGH@, ETV6"	"bladder, MM, T-cell lymphoma"		"Hypochondroplasia, Thanatophoric dysplasia"		Saethre-Chotzen syndrome;Muenke syndrome				7	84					8.12818e-05	8.94031e-05	1	1	0	A	1800986	C	A	1800986	3	1	81	1	0	0	0	0	1	0	0	0	5900	623	22	5	121	5	FGFR3	4	1800986	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	54438	1800986	189353290	3637	7253											
FGFR3	2261	broad.mit.edu	37	4	1808273	1808273	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:1808273C>T	ENST00000340107.4	+	16	2293	c.2037C>T	c.(2035-2037)gtC>gtT	p.V679V	FGFR3_ENST00000260795.2_Splice_Site_p.V677V|FGFR3_ENST00000412135.2_Splice_Site_p.V565V|FGFR3_ENST00000440486.2_Splice_Site_p.V677V|FGFR3_ENST00000481110.2_Splice_Site_p.L655L|FGFR3_ENST00000352904.1_Splice_Site_p.V565V	NM_001163213.1	NP_001156685.1	P22607	FGFR3_HUMAN	fibroblast growth factor receptor 3	677	Protein kinase.				bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding			NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)	TCCCCTGCAGCTGGTCCTTTG	0.672		1	"Mis, T"	"IGH@, ETV6"	"bladder, MM, T-cell lymphoma"		"Hypochondroplasia, Thanatophoric dysplasia"		Saethre-Chotzen syndrome;Muenke syndrome				18	23					0	0	1	0	0	T	1808273	C	T	1808273	5	4	81	1	0	0	0	0	0	0	1	0	5900	811	28	2	2244	2	FGFR3	4	1808273	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	7287	1808273	189346003	3638	7254											
WHSC1	7468	broad.mit.edu	37	4	1932478	1932478	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:1932478C>T	ENST00000503128.1	+	6	1743	c.1536C>T	c.(1534-1536)gtC>gtT	p.V512V	WHSC1_ENST00000398261.1_Silent_p.V512V|WHSC1_ENST00000420906.2_Silent_p.V512V|WHSC1_ENST00000514045.1_Silent_p.V512V|WHSC1_ENST00000382891.5_Silent_p.V512V|WHSC1_ENST00000382895.3_Silent_p.V512V|WHSC1_ENST00000508803.1_Silent_p.V512V|WHSC1_ENST00000382892.2_Silent_p.V512V			O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1	512					anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|cytoplasm|nuclear membrane|nucleolus	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		TGGCCCCTGTCCAGGCTGAAG	0.517			T	IGH@	MM								15	31					0	0	1	0	0	T	1932478	C	T	1932478	2	4	81	1	0	0	0	0	0	0	0	1	17422	842	30	2		2	WHSC1	4	1932478	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	124205	1932478	189221798	3639	7255											
NAT8L	339983	broad.mit.edu	37	4	2065625	2065625	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:2065625C>T	ENST00000423729.2	+	3	680	c.680C>T	c.(679-681)gCg>gTg	p.A227V	NAT8L_ENST00000331662.3_Missense_Mutation_p.A59V	NM_178557.3	NP_848652.2	Q8N9F0	NAT8L_HUMAN	N-acetyltransferase 8-like (GCN5-related, putative)	227	N-acetyltransferase.					integral to membrane|microsome|mitochondrial membrane|rough endoplasmic reticulum membrane	aspartate N-acetyltransferase activity			haematopoietic_and_lymphoid_tissue(1)|lung(1)	2			OV - Ovarian serous cystadenocarcinoma(23;0.0315)			ATCGCCAAGGCGCTGGGCCGG	0.662													4	42					0	0	1	0	0	T	2065625	C	T	2065625	3	4	81	1	0	0	0	0	1	0	0	0	10229	768	27	1	690	1	NAT8L	4	2065625	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	133147	2065625	189088651	3640	7256											
MXD4	10608	broad.mit.edu	37	4	2252325	2252325	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:2252325G>A	ENST00000337190.2	-	6	889	c.576C>T	c.(574-576)ggC>ggT	p.G192G		NM_006454.2	NP_006445.1	Q14582	MAD4_HUMAN	MAX dimerization protein 4	192					negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|transcription corepressor activity			breast(1)|endometrium(1)|kidney(1)|lung(3)	6						AGCCACTGTCGCCGCCGGTGC	0.701													4	9					0	0	1	0	0	A	2252325	G	A	2252325	2	1	81	1	0	0	0	0	0	0	0	1	10049	1074	38	1		1	MXD4	4	2252325	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	186700	2252325	188901951	3641	7257											
FAM193A	8603	broad.mit.edu	37	4	2661593	2661593	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:2661593delC	ENST00000324666.5	+	8	1035	c.684delC	c.(682-684)gacfs	p.D228fs	FAM193A_ENST00000502458.1_Frame_Shift_Del_p.D252fs|FAM193A_ENST00000545951.1_Frame_Shift_Del_p.D228fs|FAM193A_ENST00000505311.1_Frame_Shift_Del_p.D228fs|FAM193A_ENST00000382839.3_Frame_Shift_Del_p.D228fs	NM_001256666.1	NP_001243595.1	P78312	F193A_HUMAN	family with sequence similarity 193, member A	228										NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	40						GTATCATGGACCCCCCCGTCA	0.522													33	72	---	---	---	---						-	2661593	C	-	2661593	7	5	81	1	0	1	0	1	0	0	0	0	5556	506	18	0	706	0	FAM193A	4	2661593	Frame_Shift_Del	DEL	C	TCGA-DU-6392-01A-11D-1705-08	409268	2661593	188492683	3642	7258											
FAM193A	8603	broad.mit.edu	37	4	2692619	2692619	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:2692619T>G	ENST00000324666.5	+	13	2203	c.1852T>G	c.(1852-1854)Tct>Gct	p.S618A	FAM193A_ENST00000382839.3_Missense_Mutation_p.S618A|FAM193A_ENST00000502458.1_Missense_Mutation_p.S640A|FAM193A_ENST00000505311.1_Missense_Mutation_p.S618A|FAM193A_ENST00000545951.1_Missense_Mutation_p.S618A	NM_001256666.1	NP_001243595.1	P78312	F193A_HUMAN	family with sequence similarity 193, member A	618										NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	40						AGCCACGTCCTCTGTGTCCTG	0.458													5	64					0	0	1	0	0	G	2692619	T	G	2692619	3	3	81	1	0	0	0	0	1	0	0	0	5556	1551	54	5	1894	5	FAM193A	4	2692619	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	31026	2692619	188461657	3643	7259											
TNIP2	79155	broad.mit.edu	37	4	2749465	2749465	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:2749465C>T	ENST00000510267.1	-	2	590	c.163G>A	c.(163-165)Gcc>Acc	p.A55T	TNIP2_ENST00000315423.7_Missense_Mutation_p.A162T|TNIP2_ENST00000503235.1_Missense_Mutation_p.A162T	NM_001161527.1	NP_001154999.1	Q8NFZ5	TNIP2_HUMAN	TNFAIP3 interacting protein 2	162						cytosol	protein binding			breast(2)|central_nervous_system(1)|large_intestine(4)|lung(6)|prostate(1)	14				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CACATGTGGGCGGTGGCGGTC	0.627													65	93					0	0	1	0	0	T	2749465	C	T	2749465	3	4	81	1	0	0	0	0	1	0	0	0	16375	768	27	1	825	1	TNIP2	4	2749465	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	56846	2749465	188404811	3644	7260											
GRK4	2868	broad.mit.edu	37	4	3015421	3015421	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:3015421G>A	ENST00000398052.4	+	8	950	c.607G>A	c.(607-609)Gcc>Acc	p.A203T	GRK4_ENST00000398051.4_Missense_Mutation_p.A171T|GRK4_ENST00000504933.1_Missense_Mutation_p.A203T|GRK4_ENST00000345167.6_Missense_Mutation_p.A171T	NM_182982.2	NP_892027.2	P32298	GRK4_HUMAN	G protein-coupled receptor kinase 4	203	Protein kinase.					cell cortex	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity			lung(1)|upper_aerodigestive_tract(1)	2				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CTAGGTTTGCGCCTGTCAAGT	0.418													71	132					0	0	1	0	0	A	3015421	G	A	3015421	3	1	81	1	0	0	0	0	1	0	0	0	6832	1087	38	1	637	1	GRK4	4	3015421	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	265956	3015421	188138855	3645	7261											
GRK4	2868	broad.mit.edu	37	4	3029647	3029647	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:3029647C>T	ENST00000398052.4	+	11	1322	c.979C>T	c.(979-981)Cgg>Tgg	p.R327W	GRK4_ENST00000398051.4_Missense_Mutation_p.R295W|GRK4_ENST00000504933.1_Missense_Mutation_p.R327W|GRK4_ENST00000345167.6_Missense_Mutation_p.R295W|GRK4_ENST00000509545.1_3'UTR	NM_182982.2	NP_892027.2	P32298	GRK4_HUMAN	G protein-coupled receptor kinase 4	327	Protein kinase.					cell cortex	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity			lung(1)|upper_aerodigestive_tract(1)	2				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		AGGACACATCCGGATTTCAGA	0.483													7	48					0	0	1	0	0	T	3029647	C	T	3029647	3	4	81	1	0	0	0	0	1	0	0	0	6832	643	23	1	1021	1	GRK4	4	3029647	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	14226	3029647	188124629	3646	7262											
GRK4	2868	broad.mit.edu	37	4	3037201	3037201	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:3037201A>C	ENST00000398052.4	+	13	1701	c.1358A>C	c.(1357-1359)aAc>aCc	p.N453T	GRK4_ENST00000398051.4_Missense_Mutation_p.N421T|GRK4_ENST00000504933.1_Missense_Mutation_p.N453T|GRK4_ENST00000345167.6_Missense_Mutation_p.N421T|GRK4_ENST00000509545.1_Intron	NM_182982.2	NP_892027.2	P32298	GRK4_HUMAN	G protein-coupled receptor kinase 4	453	AGC-kinase C-terminal.					cell cortex	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity			lung(1)|upper_aerodigestive_tract(1)	2				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		AAGGACATCAACTTCAGGAGG	0.592													8	68					0	0	1	0	0	C	3037201	A	C	3037201	3	2	81	1	0	0	0	0	1	0	0	0	6832	43	2	5	1408	5	GRK4	4	3037201	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	7554	3037201	188117075	3647	7263											
HTT	3064	broad.mit.edu	37	4	3174046	3174046	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:3174046G>T	ENST00000355072.5	+	30	4009		c.e30-1			NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin						establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		TCTTTCTACAGTGTGTTGAAG	0.383													11	119					2.27111e-07	2.65192e-07	1	1	0	T	3174046	G	T	3174046	5	4	81	1	0	0	0	0	0	0	1	0	7501	1043	36	4	3982	4	HTT	4	3174046	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	136845	3174046	187980230	3648	7264											
HTT	3064	broad.mit.edu	37	4	3188447	3188447	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:3188447G>A	ENST00000355072.5	+	38	5134		c.e38+1			NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin						establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		AAACACAATGGTGAGTCTCTC	0.498													36	56					0	0	1	0	0	A	3188447	G	A	3188447	5	1	81	1	0	0	0	0	0	0	1	0	7501	1275	44	2	5140	2	HTT	4	3188447	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	14401	3188447	187965829	3649	7265											
HTT	3064	broad.mit.edu	37	4	3237092	3237092	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:3237092C>T	ENST00000355072.5	+	62	8683	c.8538C>T	c.(8536-8538)gaC>gaT	p.D2846D	HTT_ENST00000513806.1_3'UTR	NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin	2846					establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		ATCCTCTGGACGTAGGGCCGG	0.532													24	34					0	0	1	0	0	T	3237092	C	T	3237092	2	4	81	1	0	0	0	0	0	0	0	1	7501	535	19	1		1	HTT	4	3237092	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	48645	3237092	187917184	3650	7266											
RGS12	6002	broad.mit.edu	37	4	3344777	3344777	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:3344777T>C	ENST00000336727.3	+	3	2899	c.1995T>C	c.(1993-1995)ctT>ctC	p.L665L	RGS12_ENST00000382788.3_Silent_p.L665L|RGS12_ENST00000543385.1_Silent_p.L665L|RGS12_ENST00000306648.7_Silent_p.L63L|RGS12_ENST00000344733.5_Silent_p.L665L	NM_002926.3	NP_002917.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12	665						condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		TTGATGATCTTGAGGTAATTT	0.443													4	33					0	0	1	0	0	C	3344777	T	C	3344777	2	2	81	1	0	0	0	0	0	0	0	1	13345	1799	63	3		3	RGS12	4	3344777	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	107685	3344777	187809499	3651	7267											
RGS12	6002	broad.mit.edu	37	4	3418809	3418809	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:3418809C>T	ENST00000336727.3	+	8	3501	c.2597C>T	c.(2596-2598)aCg>aTg	p.T866M	RGS12_ENST00000508158.1_3'UTR|RGS12_ENST00000306648.7_Missense_Mutation_p.T264M|RGS12_ENST00000344733.5_Missense_Mutation_p.T866M|RGS12_ENST00000543385.1_3'UTR|RGS12_ENST00000382788.3_Missense_Mutation_p.T866M|RGS12_ENST00000338806.4_Missense_Mutation_p.T218M|RGS12_ENST00000538395.1_Missense_Mutation_p.T208M	NM_002926.3	NP_002917.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12	866						condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		AGTGTGTCCACGCCAAAAAAG	0.637													17	17					0	0	1	0	0	T	3418809	C	T	3418809	3	4	81	1	0	0	0	0	1	0	0	0	13345	536	19	1	2681	1	RGS12	4	3418809	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	74032	3418809	187735467	3652	7268											
RGS12	6002	broad.mit.edu	37	4	3419179	3419179	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:3419179A>G	ENST00000336727.3	+	9	3576	c.2672A>G	c.(2671-2673)aAg>aGg	p.K891R	RGS12_ENST00000508158.1_3'UTR|RGS12_ENST00000306648.7_Missense_Mutation_p.K289R|RGS12_ENST00000344733.5_Missense_Mutation_p.K891R|RGS12_ENST00000382788.3_Missense_Mutation_p.K891R|RGS12_ENST00000338806.4_Missense_Mutation_p.K243R|RGS12_ENST00000538395.1_Missense_Mutation_p.K233R	NM_002926.3	NP_002917.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12	891						condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		GACAGCGAGAAGAAGCGGAAA	0.537													5	48					0	0	1	0	0	G	3419179	A	G	3419179	3	3	81	1	0	0	0	0	1	0	0	0	13345	72	3	3	2760	3	RGS12	4	3419179	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	370	3419179	187735097	3653	7269											
RGS12	6002	broad.mit.edu	37	4	3432328	3432328	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:3432328G>A	ENST00000336727.3	+	17	4664	c.3760G>A	c.(3760-3762)Gcc>Acc	p.A1254T	RGS12_ENST00000344733.5_Missense_Mutation_p.A1254T|RGS12_ENST00000382788.3_Missense_Mutation_p.A1254T|RGS12_ENST00000338806.4_Missense_Mutation_p.A606T|RGS12_ENST00000538395.1_3'UTR	NM_002926.3	NP_002917.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12	1254						condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CCGGGAGAGCGCCTCCCAGCC	0.677													7	5					0	0	1	0	0	A	3432328	G	A	3432328	3	1	81	1	0	0	0	0	1	0	0	0	13345	1087	38	1	3880	1	RGS12	4	3432328	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	13149	3432328	187721948	3654	7270											
HGFAC	3083	broad.mit.edu	37	4	3443842	3443842	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:3443842C>T	ENST00000382774.3	+	1	229	c.114C>T	c.(112-114)ggC>ggT	p.G38G	HGFAC_ENST00000511533.1_Silent_p.G38G	NM_001528.2	NP_001519.1	Q04756	HGFA_HUMAN	HGF activator	38					proteolysis	extracellular space	protein binding|serine-type endopeptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		CCCAGCCTGGCGGGGTGAGCA	0.711													9	16					0	0	1	0	0	T	3443842	C	T	3443842	2	4	81	1	0	0	0	0	0	0	0	1	7127	755	27	1		1	HGFAC	4	3443842	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	11514	3443842	187710434	3655	7271											
ZBTB49	166793	broad.mit.edu	37	4	4303755	4303755	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:4303755T>C	ENST00000337872.4	+	3	313	c.192T>C	c.(190-192)gtT>gtC	p.V64V	ZBTB49_ENST00000355834.3_Silent_p.V64V|ZBTB49_ENST00000538529.1_5'UTR	NM_145291.3	NP_660334.3	Q6ZSB9	ZBT49_HUMAN	zinc finger and BTB domain containing 49	64	BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	28						AGAATGATGTTTTTCACTTGG	0.363													7	66					0	0	1	0	0	C	4303755	T	C	4303755	2	2	81	1	0	0	0	0	0	0	0	1	17609	1828	64	3		3	ZBTB49	4	4303755	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	859913	4303755	186850521	3656	7272											
ZBTB49	166793	broad.mit.edu	37	4	4317620	4317620	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:4317620C>A	ENST00000337872.4	+	7	1665	c.1544C>A	c.(1543-1545)tCt>tAt	p.S515Y	ZBTB49_ENST00000355834.3_Intron|ZBTB49_ENST00000538529.1_5'UTR	NM_145291.3	NP_660334.3	Q6ZSB9	ZBT49_HUMAN	zinc finger and BTB domain containing 49	515					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	28						TGTGGAAAGTCTTTTAATATG	0.463													33	57					1.06801e-11	1.32596e-11	1	1	0	A	4317620	C	A	4317620	3	1	81	1	0	0	0	0	1	0	0	0	17609	913	32	4	1566	4	ZBTB49	4	4317620	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	13865	4317620	186836656	3657	7273											
MSX1	4487	broad.mit.edu	37	4	4864565	4864565	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:4864565G>A	ENST00000382723.4	+	2	841	c.607G>A	c.(607-609)Gcg>Acg	p.A203T	MSX1_ENST00000468421.1_3'UTR	NM_002448.3	NP_002439.2	P28360	MSX1_HUMAN	msh homeobox 1	197					apoptotic nuclear change|face morphogenesis|negative regulation of cell growth|odontogenesis of dentine-containing tooth|positive regulation of apoptosis|protein localization to nucleus|protein stabilization	nucleus	p53 binding|sequence-specific DNA binding transcription factor activity			endometrium(3)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	11				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		CGCCGAGCGCGCGGAGTTCTC	0.627													24	32					0	0	1	0	0	A	4864565	G	A	4864565	3	1	81	1	0	0	0	0	1	0	0	0	9943	1087	38	1	613	1	MSX1	4	4864565	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	546945	4864565	186289711	3658	7274											
STK32B	55351	broad.mit.edu	37	4	5469740	5469740	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:5469740A>G	ENST00000282908.5	+	11	1471	c.1049A>G	c.(1048-1050)cAc>cGc	p.H350R	STK32B_ENST00000510398.1_Missense_Mutation_p.H303R|STK32B_ENST00000512636.1_Missense_Mutation_p.H273R|STK32B_ENST00000508728.1_3'UTR	NM_018401.1	NP_060871.1	Q9NY57	ST32B_HUMAN	serine/threonine kinase 32B	350							ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	39						CAGAATGGACACCTGCAGCAC	0.517													5	98					0	0	1	0	0	G	5469740	A	G	5469740	3	3	81	1	0	0	0	0	1	0	0	0	15354	159	6	3	1091	3	STK32B	4	5469740	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	605175	5469740	185684536	3659	7275											
EVC	2121	broad.mit.edu	37	4	5721083	5721083	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:5721083G>A	ENST00000382674.2	+	2	467	c.283G>A	c.(283-285)Gac>Aac	p.D95N	EVC_ENST00000264956.6_Missense_Mutation_p.D95N|EVC_ENST00000509451.1_Missense_Mutation_p.D95N			P57679	EVC_HUMAN	Ellis van Creveld syndrome	95					muscle organ development	integral to membrane				NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1)	28		Myeloproliferative disorder(84;0.117)				GATGTCGAAGGACAAGGAAGC	0.512													21	57					0	0	1	0	0	A	5721083	G	A	5721083	3	1	81	1	0	0	0	0	1	0	0	0	5313	1174	41	2	289	2	EVC	4	5721083	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	251343	5721083	185433193	3660	7276											
EVC	2121	broad.mit.edu	37	4	5733317	5733317	+	Missense_Mutation	SNP	G	G	A	rs41269549	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:5733317G>A	ENST00000382674.2	+	4	734	c.550G>A	c.(550-552)Gat>Aat	p.D184N	EVC_ENST00000264956.6_Missense_Mutation_p.D184N|EVC_ENST00000509451.1_Missense_Mutation_p.D184N			P57679	EVC_HUMAN	Ellis van Creveld syndrome	184					muscle organ development	integral to membrane				NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1)	28		Myeloproliferative disorder(84;0.117)				GGCCACCAGCGATGACAGGTT	0.632													4	46					0	0	1	0	0	A	5733317	G	A	5733317	3	1	81	1	0	0	0	0	1	0	0	0	5313	1058	37	1	564	1	EVC	4	5733317	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	12234	5733317	185420959	3661	7277											
EVC	2121	broad.mit.edu	37	4	5811321	5811321	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:5811321C>T	ENST00000382674.2	+	19	2949	c.2765C>T	c.(2764-2766)gCt>gTt	p.A922V	EVC_ENST00000264956.6_Missense_Mutation_p.A922V			P57679	EVC_HUMAN	Ellis van Creveld syndrome	922					muscle organ development	integral to membrane				NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1)	28		Myeloproliferative disorder(84;0.117)				CTGTTGCCTGCTAAGCGTGGG	0.542													12	20					0	0	1	0	0	T	5811321	C	T	5811321	3	4	81	1	0	0	0	0	1	0	0	0	5313	797	28	2	2839	2	EVC	4	5811321	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	78004	5811321	185342955	3662	7278											
C4orf50	389197	broad.mit.edu	37	4	5977631	5977631	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:5977631G>T	ENST00000531445.1	-	3	1688	c.1642C>A	c.(1642-1644)Ctg>Atg	p.L548M	C4orf50_ENST00000324058.5_Missense_Mutation_p.L74M			Q6ZRC1	CD050_HUMAN	chromosome 4 open reading frame 50	74										breast(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(2)|skin(3)|urinary_tract(1)	15						ATTACCTTCAGGGGAGTCACT	0.363													6	57					0.0215528	0.0221217	1	1	0	T	5977631	G	T	5977631	3	4	81	1	0	0	0	0	1	0	0	0	2291	991	35	4	630	4	C4orf50	4	5977631	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	166310	5977631	185176645	3663	7279											
JAKMIP1	152789	broad.mit.edu	37	4	6050601	6050601	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:6050601G>A	ENST00000409021.3	-	16	2460	c.2011C>T	c.(2011-2013)Ctt>Ttt	p.L671F	JAKMIP1_ENST00000409371.3_Missense_Mutation_p.L486F	NM_001099433.1	NP_001092903.1	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein 1	442					protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding			NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CACAGGGCAAGCACAGTTCCA	0.463													3	30					0	0	1	0	0	A	6050601	G	A	6050601	3	1	81	1	0	0	0	0	1	0	0	0	7984	971	34	2	508	2	JAKMIP1	4	6050601	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	72970	6050601	185103675	3664	7280											
JAKMIP1	152789	broad.mit.edu	37	4	6066610	6066610	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:6066610G>A	ENST00000409021.3	-	9	1877	c.1428C>T	c.(1426-1428)gaC>gaT	p.D476D	JAKMIP1_ENST00000410077.2_Silent_p.D311D|JAKMIP1_ENST00000409831.1_Silent_p.D476D|JAKMIP1_ENST00000457227.2_5'UTR|JAKMIP1_ENST00000282924.5_Silent_p.D476D|JAKMIP1_ENST00000409371.3_Silent_p.D291D	NM_001099433.1	NP_001092903.1	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein 1	476	Mediates interaction with TYK2 and GABBR1.				protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding			NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TGCTTACATCGTCCAAGTCTT	0.547													19	19					0	0	1	0	0	A	6066610	G	A	6066610	2	1	81	1	0	0	0	0	0	0	0	1	7984	1136	40	1		1	JAKMIP1	4	6066610	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	16009	6066610	185087666	3665	7281											
JAKMIP1	152789	broad.mit.edu	37	4	6066711	6066712	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:6066711_6066712insA	ENST00000409021.3	-	9	1775_1776	c.1326_1327insT	c.(1324-1329)tttggafs	p.G443fs	JAKMIP1_ENST00000457227.2_5'UTR|JAKMIP1_ENST00000409831.1_Frame_Shift_Ins_p.G443fs|JAKMIP1_ENST00000410077.2_Frame_Shift_Ins_p.G278fs|JAKMIP1_ENST00000409371.3_Frame_Shift_Ins_p.G258fs|JAKMIP1_ENST00000282924.5_Frame_Shift_Ins_p.G443fs	NM_001099433.1	NP_001092903.1	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein 1	443	Mediates interaction with TYK2 and GABBR1.				protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding			NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TCATCAAATCCAAAAAATGTCT	0.49													22	60	---	---	---	---						A	6066712	-	A	6066711	7	5	81	1	0	1	1	0	0	0	0	0	7984	603	21	0	1295	0	JAKMIP1	4	6066711	Frame_Shift_Ins	INS	-	TCGA-DU-6392-01A-11D-1705-08	101	6066711	185087565	3666	7282											
WFS1	7466	broad.mit.edu	37	4	6303631	6303631	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:6303631C>A	ENST00000226760.1	+	8	2279	c.2109C>A	c.(2107-2109)cgC>cgA	p.R703R	WFS1_ENST00000503569.1_Silent_p.R703R	NM_001145853.1|NM_006005.3	NP_001139325.1|NP_005996.2	O76024	WFS1_HUMAN	Wolfram syndrome 1 (wolframin)	703					endoplasmic reticulum calcium ion homeostasis|endoplasmic reticulum unfolded protein response|ER overload response|ER-associated protein catabolic process|glucose homeostasis|kidney development|negative regulation of neuron apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|polyubiquitinated misfolded protein transport|positive regulation of calcium ion transport|positive regulation of growth|positive regulation of protein ubiquitination|positive regulation of proteolysis|protein stabilization|renal water homeostasis|sensory perception of sound|visual perception	dendrite|integral to endoplasmic reticulum membrane	activating transcription factor binding|ATPase binding|transporter activity|ubiquitin protein ligase binding			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	21				Colorectal(103;0.0512)		GGACCGGCCGCTTCAAGTACG	0.652													10	18					1.58986e-06	1.82794e-06	1	1	0	A	6303631	C	A	6303631	2	1	81	1	0	0	0	0	0	0	0	1	17420	784	28	4		4	WFS1	4	6303631	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	236920	6303631	184850645	3667	7283											
WFS1	7466	broad.mit.edu	37	4	6304141	6304141	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:6304141C>T	ENST00000226760.1	+	8	2789	c.2619C>T	c.(2617-2619)ggC>ggT	p.G873G	WFS1_ENST00000503569.1_Silent_p.G873G	NM_001145853.1|NM_006005.3	NP_001139325.1|NP_005996.2	O76024	WFS1_HUMAN	Wolfram syndrome 1 (wolframin)	873					endoplasmic reticulum calcium ion homeostasis|endoplasmic reticulum unfolded protein response|ER overload response|ER-associated protein catabolic process|glucose homeostasis|kidney development|negative regulation of neuron apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|polyubiquitinated misfolded protein transport|positive regulation of calcium ion transport|positive regulation of growth|positive regulation of protein ubiquitination|positive regulation of proteolysis|protein stabilization|renal water homeostasis|sensory perception of sound|visual perception	dendrite|integral to endoplasmic reticulum membrane	activating transcription factor binding|ATPase binding|transporter activity|ubiquitin protein ligase binding			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	21				Colorectal(103;0.0512)		CCGTGCATGGCGCCGTGAAGT	0.617													14	14					0	0	1	0	0	T	6304141	C	T	6304141	2	4	81	1	0	0	0	0	0	0	0	1	17420	755	27	1		1	WFS1	4	6304141	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	510	6304141	184850135	3668	7284											
WFS1	7466	broad.mit.edu	37	4	6304188	6304188	+	Missense_Mutation	SNP	C	C	T	rs147934586		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:6304188C>T	ENST00000226760.1	+	8	2836	c.2666C>T	c.(2665-2667)gCg>gTg	p.A889V	WFS1_ENST00000503569.1_Missense_Mutation_p.A889V	NM_001145853.1|NM_006005.3	NP_001139325.1|NP_005996.2	O76024	WFS1_HUMAN	Wolfram syndrome 1 (wolframin)	889					endoplasmic reticulum calcium ion homeostasis|endoplasmic reticulum unfolded protein response|ER overload response|ER-associated protein catabolic process|glucose homeostasis|kidney development|negative regulation of neuron apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|polyubiquitinated misfolded protein transport|positive regulation of calcium ion transport|positive regulation of growth|positive regulation of protein ubiquitination|positive regulation of proteolysis|protein stabilization|renal water homeostasis|sensory perception of sound|visual perception	dendrite|integral to endoplasmic reticulum membrane	activating transcription factor binding|ATPase binding|transporter activity|ubiquitin protein ligase binding			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	21				Colorectal(103;0.0512)		TTCCTGTCGGCGGCCTGAGGA	0.637													10	12					0	0	1	0	0	T	6304188	C	T	6304188	3	4	81	1	0	0	0	0	1	0	0	0	17420	768	27	1	2692	1	WFS1	4	6304188	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	47	6304188	184850088	3669	7285											
PPP2R2C	5522	broad.mit.edu	37	4	6473900	6473900	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:6473900G>A	ENST00000382599.4	-	1	273	c.57C>T	c.(55-57)agC>agT	p.S19S	PPP2R2C_ENST00000507294.1_Intron|PPP2R2C_ENST00000314348.8_Intron|PPP2R2C_ENST00000506140.1_Intron			Q9Y2T4	2ABG_HUMAN	protein phosphatase 2, regulatory subunit B, gamma	19					signal transduction	protein phosphatase type 2A complex	protein phosphatase type 2A regulator activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	28						CAGTCACATAGCTGTGGTCCC	0.647													28	55					0	0	1	0	0	A	6473900	G	A	6473900	2	1	81	1	0	0	0	0	0	0	0	1	12435	962	34	2		2	PPP2R2C	4	6473900	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	169712	6473900	184680376	3670	7286											
PPP2R2C	5522	broad.mit.edu	37	4	6473947	6473947	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:6473947C>T	ENST00000382599.4	-	1	226	c.10G>A	c.(10-12)Gac>Aac	p.D4N	PPP2R2C_ENST00000507294.1_Intron|PPP2R2C_ENST00000314348.8_Intron|PPP2R2C_ENST00000506140.1_Intron			Q9Y2T4	2ABG_HUMAN	protein phosphatase 2, regulatory subunit B, gamma	4					signal transduction	protein phosphatase type 2A complex	protein phosphatase type 2A regulator activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	28						GTGTCCGTGTCCTCGCCCATT	0.672													20	48					0	0	1	0	0	T	6473947	C	T	6473947	3	4	81	1	0	0	0	0	1	0	0	0	12435	855	30	2	1443	2	PPP2R2C	4	6473947	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	47	6473947	184680329	3671	7287											
MAN2B2	23324	broad.mit.edu	37	4	6588806	6588806	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:6588806A>T	ENST00000285599.3	+	4	511	c.475A>T	c.(475-477)Acg>Tcg	p.T159S	MAN2B2_ENST00000504248.1_Missense_Mutation_p.T159S	NM_015274.1	NP_056089.1	Q9Y2E5	MA2B2_HUMAN	mannosidase, alpha, class 2B, member 2	159					mannose metabolic process	extracellular region	alpha-mannosidase activity|carbohydrate binding|zinc ion binding			breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	30						CTCTGCCACGACGCCCACCCT	0.602													4	39					0	0	1	0	0	T	6588806	A	T	6588806	3	4	81	1	0	0	0	0	1	0	0	0	9267	275	10	5	489	5	MAN2B2	4	6588806	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	114859	6588806	184565470	3672	7288											
MAN2B2	23324	broad.mit.edu	37	4	6588879	6588879	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:6588879C>A	ENST00000285599.3	+	4	584	c.548C>A	c.(547-549)gCc>gAc	p.A183D	MAN2B2_ENST00000504248.1_Missense_Mutation_p.A183D	NM_015274.1	NP_056089.1	Q9Y2E5	MA2B2_HUMAN	mannosidase, alpha, class 2B, member 2	183					mannose metabolic process	extracellular region	alpha-mannosidase activity|carbohydrate binding|zinc ion binding			breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	30						CTGAAGGCAGCCATGCAGGAG	0.652													4	14					1	1	1	1	0	A	6588879	C	A	6588879	3	1	81	1	0	0	0	0	1	0	0	0	9267	739	26	5	562	5	MAN2B2	4	6588879	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	73	6588879	184565397	3673	7289											
MAN2B2	23324	broad.mit.edu	37	4	6595014	6595014	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:6595014C>A	ENST00000285599.3	+	6	831	c.795C>A	c.(793-795)gcC>gcA	p.A265A	MAN2B2_ENST00000504248.1_Intron	NM_015274.1	NP_056089.1	Q9Y2E5	MA2B2_HUMAN	mannosidase, alpha, class 2B, member 2	265					mannose metabolic process	extracellular region	alpha-mannosidase activity|carbohydrate binding|zinc ion binding			breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	30						ATGCCGAGGCCCTGGTGGCCA	0.632													17	25					1.01871e-10	1.25121e-10	1	1	0	A	6595014	C	A	6595014	2	1	81	1	0	0	0	0	0	0	0	1	9267	610	22	5		5	MAN2B2	4	6595014	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	6135	6595014	184559262	3674	7290											
MAN2B2	23324	broad.mit.edu	37	4	6596380	6596380	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:6596380C>T	ENST00000285599.3	+	7	1014	c.978C>T	c.(976-978)ggC>ggT	p.G326G	MAN2B2_ENST00000504248.1_Silent_p.G275G	NM_015274.1	NP_056089.1	Q9Y2E5	MA2B2_HUMAN	mannosidase, alpha, class 2B, member 2	326					mannose metabolic process	extracellular region	alpha-mannosidase activity|carbohydrate binding|zinc ion binding			breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	30						CCACGCTGGGCGACTACTTCC	0.617													7	19					0	0	1	0	0	T	6596380	C	T	6596380	2	4	81	1	0	0	0	0	0	0	0	1	9267	755	27	1		1	MAN2B2	4	6596380	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1366	6596380	184557896	3675	7291											
MAN2B2	23324	broad.mit.edu	37	4	6610849	6610849	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:6610849G>A	ENST00000285599.3	+	12	1866	c.1830G>A	c.(1828-1830)acG>acA	p.T610T	MAN2B2_ENST00000504960.1_3'UTR|MAN2B2_ENST00000504248.1_Silent_p.T559T	NM_015274.1	NP_056089.1	Q9Y2E5	MA2B2_HUMAN	mannosidase, alpha, class 2B, member 2	610					mannose metabolic process	extracellular region	alpha-mannosidase activity|carbohydrate binding|zinc ion binding	p.T610T(1)		breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	30						GTAACCGAACGGTGCGCGTGA	0.567													3	17					0	0	1	0	0	A	6610849	G	A	6610849	2	1	81	1	0	0	0	0	0	0	0	1	9267	1103	39	1		1	MAN2B2	4	6610849	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	14469	6610849	184543427	3676	7292											
KIAA0232	9778	broad.mit.edu	37	4	6864544	6864544	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:6864544A>G	ENST00000307659.5	+	7	2890	c.2435A>G	c.(2434-2436)aAt>aGt	p.N812S	KIAA0232_ENST00000425103.1_Missense_Mutation_p.N812S	NM_014743.2	NP_055558.2	Q92628	K0232_HUMAN	KIAA0232	812							ATP binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(12)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	41						CAAGTATGTAATGAAAGTCCA	0.343													9	67					0	0	1	0	0	G	6864544	A	G	6864544	3	3	81	1	0	0	0	0	1	0	0	0	8205	101	4	3	2453	3	KIAA0232	4	6864544	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	253695	6864544	184289732	3677	7293											
KIAA0232	9778	broad.mit.edu	37	4	6864926	6864926	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:6864926C>A	ENST00000307659.5	+	7	3272	c.2817C>A	c.(2815-2817)acC>acA	p.T939T	KIAA0232_ENST00000425103.1_Silent_p.T939T	NM_014743.2	NP_055558.2	Q92628	K0232_HUMAN	KIAA0232	939							ATP binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(12)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	41						AACTCAAAACCTTCAATAGTG	0.448													4	52					0.00909568	0.00944708	1	1	0	A	6864926	C	A	6864926	2	1	81	1	0	0	0	0	0	0	0	1	8205	668	24	4		4	KIAA0232	4	6864926	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	382	6864926	184289350	3678	7294											
TBC1D14	57533	broad.mit.edu	37	4	7002978	7002978	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:7002978G>A	ENST00000409757.4	+	7	1394	c.1270G>A	c.(1270-1272)Gag>Aag	p.E424K	TBC1D14_ENST00000410031.1_Splice_Site_p.E196K|TBC1D14_ENST00000446947.2_Splice_Site_p.E37K|TBC1D14_ENST00000451522.2_Splice_Site_p.E144K|TBC1D14_ENST00000448507.1_Splice_Site_p.E424K	NM_020773.2	NP_065824.2	Q9P2M4	TBC14_HUMAN	TBC1 domain family, member 14	424	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			breast(1)|endometrium(5)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	22						TATCACCCACGGTGAGTGGCC	0.517													4	17					0	0	1	0	0	A	7002978	G	A	7002978	5	1	81	1	0	0	0	0	0	0	1	0	15660	1130	39	1	1299	1	TBC1D14	4	7002978	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	138052	7002978	184151298	3679	7295											
TBC1D14	57533	broad.mit.edu	37	4	7026800	7026800	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:7026800C>T	ENST00000409757.4	+	13	1951	c.1827C>T	c.(1825-1827)cgC>cgT	p.R609R	TBC1D14_ENST00000410031.1_Silent_p.R381R|TBC1D14_ENST00000446947.2_Silent_p.R256R|TBC1D14_ENST00000451522.2_Silent_p.R329R|TBC1D14_ENST00000448507.1_Silent_p.R609R	NM_020773.2	NP_065824.2	Q9P2M4	TBC14_HUMAN	TBC1 domain family, member 14	609	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			breast(1)|endometrium(5)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	22						TGTTCTGTCGCGATGGGGAAG	0.507													68	112					0	0	1	0	0	T	7026800	C	T	7026800	2	4	81	1	0	0	0	0	0	0	0	1	15660	755	27	1		1	TBC1D14	4	7026800	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	23822	7026800	184127476	3680	7296											
TADA2B	93624	broad.mit.edu	37	4	7056173	7056173	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:7056173C>T	ENST00000310074.7	+	2	844	c.655C>T	c.(655-657)Cgg>Tgg	p.R219W	TADA2B_ENST00000515646.1_Missense_Mutation_p.R127W|TADA2B_ENST00000512388.1_Missense_Mutation_p.R144W	NM_152293.2	NP_689506.2	Q86TJ2	TAD2B_HUMAN	transcriptional adaptor 2B	219					regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|zinc ion binding			breast(3)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)	18						GAGACAGCGGCGGAAGAACAT	0.572													26	53					0	0	1	0	0	T	7056173	C	T	7056173	3	4	81	1	0	0	0	0	1	0	0	0	15568	759	27	1	661	1	TADA2B	4	7056173	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	29373	7056173	184098103	3681	7297											
SORCS2	57537	broad.mit.edu	37	4	7714488	7714488	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:7714488G>A	ENST00000507866.2	+	15	2006	c.1897G>A	c.(1897-1899)Gat>Aat	p.D633N	SORCS2_ENST00000329016.9_Missense_Mutation_p.D461N	NM_020777.2	NP_065828.2	Q96PQ0	SORC2_HUMAN	sortilin-related VPS10 domain containing receptor 2	633						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	42						CTTCCGCTCCGATTGGGAGCT	0.592													7	37					0	0	1	0	0	A	7714488	G	A	7714488	3	1	81	1	0	0	0	0	1	0	0	0	14985	1058	37	1	1955	1	SORCS2	4	7714488	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	658315	7714488	183439788	3682	7298											
SORCS2	57537	broad.mit.edu	37	4	7725423	7725423	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:7725423G>T	ENST00000507866.2	+	19	2533		c.e19-1		SORCS2_ENST00000329016.9_Splice_Site	NM_020777.2	NP_065828.2	Q96PQ0	SORC2_HUMAN	sortilin-related VPS10 domain containing receptor 2							integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	42						TTTCTCTGCAGGGTGATGTCC	0.557													7	101					0.307466	0.308658	1	1	0	T	7725423	G	T	7725423	5	4	81	1	0	0	0	0	0	0	1	0	14985	1014	35	4	2498	4	SORCS2	4	7725423	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	10935	7725423	183428853	3683	7299											
AFAP1	60312	broad.mit.edu	37	4	7844934	7844934	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:7844934G>T	ENST00000420658.1	-	5	750	c.478C>A	c.(478-480)Ctg>Atg	p.L160M	AFAP1_ENST00000382543.3_Missense_Mutation_p.L160M|AFAP1_ENST00000360265.4_Missense_Mutation_p.L160M|AFAP1_ENST00000358461.2_Missense_Mutation_p.L160M	NM_001134647.1	NP_001128119.1	Q8N556	AFAP1_HUMAN	actin filament associated protein 1	160	PH 1.					actin cytoskeleton|cytoplasm|focal adhesion	actin binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(4)|stomach(2)	32						TTCCGCAGCAGGAAGGCGCAG	0.552													28	31					1.08312e-15	1.38358e-15	1	1	0	T	7844934	G	T	7844934	3	4	81	1	0	0	0	0	1	0	0	0	352	991	35	4	2022	4	AFAP1	4	7844934	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	119511	7844934	183309342	3684	7300											
ABLIM2	84448	broad.mit.edu	37	4	7986584	7986584	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:7986584C>T	ENST00000318888.4	-	17	1691	c.820G>A	c.(820-822)Gcc>Acc	p.A274T	ABLIM2_ENST00000296372.8_Intron|ABLIM2_ENST00000361581.5_Intron|ABLIM2_ENST00000545242.1_Intron|ABLIM2_ENST00000546334.1_Intron|ABLIM2_ENST00000505872.1_Missense_Mutation_p.A487T|ABLIM2_ENST00000341937.5_Missense_Mutation_p.A539T|ABLIM2_ENST00000514025.1_Missense_Mutation_p.A274T|ABLIM2_ENST00000361737.5_Intron|ABLIM2_ENST00000447017.2_Missense_Mutation_p.A573T|ABLIM2_ENST00000407564.3_Intron			Q6H8Q1	ABLM2_HUMAN	actin binding LIM protein family, member 2	539			K -> M (in a pancreatic ductal adenocarcinoma sample; somatic mutation).		axon guidance|cytoskeleton organization	actin cytoskeleton|cytoplasm|intermediate filament cytoskeleton|nucleus	actin binding|zinc ion binding			NS(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|pancreas(3)|prostate(2)|urinary_tract(1)	25						CCCCAGCTGGCATCCGGGTCT	0.617													4	4					0	0	1	0	0	T	7986584	C	T	7986584	3	4	81	1	0	0	0	0	1	0	0	0	95	710	25	2	236	2	ABLIM2	4	7986584	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	141650	7986584	183167692	3685	7301											
ABLIM2	84448	broad.mit.edu	37	4	7994606	7994606	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:7994606C>T	ENST00000318888.4	-	16	1641	c.770G>A	c.(769-771)gGc>gAc	p.G257D	ABLIM2_ENST00000296372.8_Intron|ABLIM2_ENST00000361581.5_Intron|ABLIM2_ENST00000545242.1_Intron|ABLIM2_ENST00000546334.1_Intron|ABLIM2_ENST00000505872.1_Missense_Mutation_p.G470D|ABLIM2_ENST00000341937.5_Missense_Mutation_p.G522D|ABLIM2_ENST00000514025.1_Missense_Mutation_p.G257D|ABLIM2_ENST00000361737.5_Intron|ABLIM2_ENST00000447017.2_Missense_Mutation_p.G556D|ABLIM2_ENST00000407564.3_Intron			Q6H8Q1	ABLM2_HUMAN	actin binding LIM protein family, member 2	522	LIM zinc-binding 4.				axon guidance|cytoskeleton organization	actin cytoskeleton|cytoplasm|intermediate filament cytoskeleton|nucleus	actin binding|zinc ion binding			NS(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|pancreas(3)|prostate(2)|urinary_tract(1)	25						CTGGTCCAAGCCATTCTTTCC	0.552													6	15					0	0	1	0	0	T	7994606	C	T	7994606	3	4	81	1	0	0	0	0	1	0	0	0	95	739	26	2	290	2	ABLIM2	4	7994606	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	8022	7994606	183159670	3686	7302											
SH3TC1	54436	broad.mit.edu	37	4	8218777	8218778	+	Frame_Shift_Ins	INS	-	-	T	rs149468044		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:8218777_8218778insT	ENST00000539824.1	+	7	868_869	c.494_495insT	c.(493-498)tcggggfs	p.SG165fs	SH3TC1_ENST00000245105.3_Frame_Shift_Ins_p.SG241fs			Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	241							binding			NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						AGGCAGGCTTCGGGGGCACCCC	0.673													8	36	---	---	---	---						T	8218778	-	T	8218777	7	5	81	1	0	1	1	0	0	0	0	0	14316	893	31	0	744	0	SH3TC1	4	8218777	Frame_Shift_Ins	INS	-	TCGA-DU-6392-01A-11D-1705-08	224171	8218777	182935499	3687	7303											
SH3TC1	54436	broad.mit.edu	37	4	8229811	8229811	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:8229811G>A	ENST00000539824.1	+	12	2536	c.2162G>A	c.(2161-2163)aGc>aAc	p.S721N	SH3TC1_ENST00000245105.3_Missense_Mutation_p.S797N			Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	797							binding			NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						CAGCTGTACAGCCACCATGGC	0.672													7	16					0	0	1	0	0	A	8229811	G	A	8229811	3	1	81	1	0	0	0	0	1	0	0	0	14316	971	34	2	2432	2	SH3TC1	4	8229811	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	11034	8229811	182924465	3688	7304											
SH3TC1	54436	broad.mit.edu	37	4	8233806	8233806	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:8233806C>T	ENST00000539824.1	+	13	3200	c.2826C>T	c.(2824-2826)tgC>tgT	p.C942C	SH3TC1_ENST00000245105.3_Silent_p.C1018C			Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	1018							binding			NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						CCCTGGCCTGCAAGGTGGCCG	0.662													20	26					0	0	1	0	0	T	8233806	C	T	8233806	2	4	81	1	0	0	0	0	0	0	0	1	14316	718	25	2		2	SH3TC1	4	8233806	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3995	8233806	182920470	3689	7305											
ACOX3	8310	broad.mit.edu	37	4	8407741	8407741	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:8407741C>T	ENST00000356406.5	-	7	794	c.717G>A	c.(715-717)atG>atA	p.M239I	ACOX3_ENST00000503233.1_Missense_Mutation_p.M239I|ACOX3_ENST00000413009.2_Missense_Mutation_p.M239I	NM_003501.2	NP_003492.2	O15254	ACOX3_HUMAN	acyl-CoA oxidase 3, pristanoyl	239					bile acid metabolic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|pristanoyl-CoA oxidase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(17)|prostate(1)|skin(3)|stomach(1)	42						TCACTCCAGGCATGGGAAGAA	0.488													60	87					0	0	1	0	0	T	8407741	C	T	8407741	3	4	81	1	0	0	0	0	1	0	0	0	160	710	25	2	1433	2	ACOX3	4	8407741	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	173935	8407741	182746535	3690	7306											
ACOX3	8310	broad.mit.edu	37	4	8418133	8418133	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:8418133G>A	ENST00000356406.5	-	2	193	c.116C>T	c.(115-117)aCg>aTg	p.T39M	ACOX3_ENST00000503233.1_Missense_Mutation_p.T39M|ACOX3_ENST00000413009.2_Missense_Mutation_p.T39M	NM_003501.2	NP_003492.2	O15254	ACOX3_HUMAN	acyl-CoA oxidase 3, pristanoyl	39					bile acid metabolic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|pristanoyl-CoA oxidase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(17)|prostate(1)|skin(3)|stomach(1)	42						CTCCCCTTCCGTGAACAGCGC	0.587													22	61					0	0	1	0	0	A	8418133	G	A	8418133	3	1	81	1	0	0	0	0	1	0	0	0	160	1145	40	1	2054	1	ACOX3	4	8418133	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	10392	8418133	182736143	3691	7307											
CPZ	8532	broad.mit.edu	37	4	8607726	8607726	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:8607726G>T	ENST00000382480.2	+	5	1109	c.309G>T	c.(307-309)gaG>gaT	p.E103D	CPZ_ENST00000360986.4_Missense_Mutation_p.E240D|CPZ_ENST00000429646.2_5'UTR|CPZ_ENST00000315782.6_Missense_Mutation_p.E229D	NM_001014448.2	NP_001014448	Q66K79	CBPZ_HUMAN	carboxypeptidase Z	240	FZ.				proteolysis|Wnt receptor signaling pathway	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding	p.E240D(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						TGGAGCCCGAGGTGAAGCTCA	0.587													5	51					0.014758	0.0152304	1	1	0	T	8607726	G	T	8607726	3	4	81	1	0	0	0	0	1	0	0	0	3862	991	35	4	738	4	CPZ	4	8607726	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	189593	8607726	182546550	3692	7308											
CPZ	8532	broad.mit.edu	37	4	8608505	8608505	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:8608505G>A	ENST00000382480.2	+	6	1337	c.537G>A	c.(535-537)gcG>gcA	p.A179A	CPZ_ENST00000360986.4_Silent_p.A316A|CPZ_ENST00000429646.2_5'UTR|CPZ_ENST00000315782.6_Silent_p.A305A	NM_001014448.2	NP_001014448	Q66K79	CBPZ_HUMAN	carboxypeptidase Z	316					proteolysis|Wnt receptor signaling pathway	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						GGCAGAACGCGCAGAACCTGG	0.662													25	37					0	0	1	0	0	A	8608505	G	A	8608505	2	1	81	1	0	0	0	0	0	0	0	1	3862	1074	38	1		1	CPZ	4	8608505	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	779	8608505	182545771	3693	7309											
CPZ	8532	broad.mit.edu	37	4	8609139	8609139	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:8609139C>T	ENST00000382480.2	+	7	1603	c.803C>T	c.(802-804)aCg>aTg	p.T268M	CPZ_ENST00000360986.4_Missense_Mutation_p.T405M|CPZ_ENST00000429646.2_5'UTR|CPZ_ENST00000315782.6_Missense_Mutation_p.T394M	NM_001014448.2	NP_001014448	Q66K79	CBPZ_HUMAN	carboxypeptidase Z	405					proteolysis|Wnt receptor signaling pathway	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						TTTTCTCCCACGCCCGACGAG	0.632											OREG0016100	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	18					0	0	1	0	0	T	8609139	C	T	8609139	3	4	81	1	0	0	0	0	1	0	0	0	3862	536	19	1	1240	1	CPZ	4	8609139	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	634	8609139	182545137	3694	7310											
CPZ	8532	broad.mit.edu	37	4	8616085	8616085	+	Splice_Site	SNP	G	G	T	rs139636384		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:8616085G>T	ENST00000429646.2	+	7	2980		c.e7-1		CPZ_ENST00000360986.4_Splice_Site|CPZ_ENST00000315782.6_Splice_Site|CPZ_ENST00000382480.2_Splice_Site			Q66K79	CBPZ_HUMAN	carboxypeptidase Z						proteolysis|Wnt receptor signaling pathway	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						CTGTGCCACAGGCATGTCCGA	0.627													6	35					8.28177e-16	1.05926e-15	1	1	0	T	8616085	G	T	8616085	5	4	81	1	0	0	0	0	0	0	1	0	3862	1014	35	4	1397	4	CPZ	4	8616085	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	6946	8616085	182538191	3695	7311											
CPZ	8532	broad.mit.edu	37	4	8621238	8621238	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:8621238C>T	ENST00000429646.2	+	9	3470	c.677C>T	c.(676-678)cCg>cTg	p.P226L	CPZ_ENST00000360986.4_Missense_Mutation_p.P618L|CPZ_ENST00000315782.6_Missense_Mutation_p.P607L|CPZ_ENST00000382480.2_Missense_Mutation_p.P481L			Q66K79	CBPZ_HUMAN	carboxypeptidase Z	618					proteolysis|Wnt receptor signaling pathway	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						GAGCCCGACCCGCTCCGGGCG	0.677													4	37					0	0	1	0	0	T	8621238	C	T	8621238	3	4	81	1	0	0	0	0	1	0	0	0	3862	652	23	1	1895	1	CPZ	4	8621238	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	5153	8621238	182533038	3696	7312											
DRD5	1816	broad.mit.edu	37	4	9784208	9784208	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:9784208G>A	ENST00000304374.2	+	1	951	c.555G>A	c.(553-555)gcG>gcA	p.A185A		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5	185					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane				NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)	GGGACCAGGCGGCCTCTTGGG	0.612													15	38					0	0	1	0	0	A	9784208	G	A	9784208	2	1	81	1	0	0	0	0	0	0	0	1	4786	1103	39	1		1	DRD5	4	9784208	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1162970	9784208	181370068	3697	7313											
WDR1	9948	broad.mit.edu	37	4	10079512	10079512	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:10079512C>T	ENST00000382452.2	-	13	1716	c.1434G>A	c.(1432-1434)acG>acA	p.T478T	WDR1_ENST00000502702.1_Silent_p.T338T|WDR1_ENST00000515743.1_5'UTR|WDR1_ENST00000499869.2_Silent_p.T478T|WDR1_ENST00000382451.2_Silent_p.T338T	NM_017491.3	NP_059830.1	O75083	WDR1_HUMAN	WD repeat domain 1	478					platelet activation|platelet degranulation|sensory perception of sound	cytoskeleton|cytosol|extracellular region	actin binding			endometrium(3)|lung(5)|ovary(2)|pancreas(1)|urinary_tract(1)	12				STAD - Stomach adenocarcinoma(129;0.000703)|Colorectal(103;0.0057)|LUSC - Lung squamous cell carcinoma(721;0.0232)		CATCCTTCAGCGTGGTGCCCA	0.642													3	6					0	0	1	0	0	T	10079512	C	T	10079512	2	4	81	1	0	0	0	0	0	0	0	1	17332	755	27	1		1	WDR1	4	10079512	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	295304	10079512	181074764	3698	7314											
WDR1	9948	broad.mit.edu	37	4	10099412	10099412	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:10099412G>A	ENST00000382452.2	-	5	763	c.481C>T	c.(481-483)Cgg>Tgg	p.R161W	WDR1_ENST00000502702.1_Intron|WDR1_ENST00000499869.2_Missense_Mutation_p.R161W|WDR1_ENST00000382451.2_Intron	NM_017491.3	NP_059830.1	O75083	WDR1_HUMAN	WD repeat domain 1	161					platelet activation|platelet degranulation|sensory perception of sound	cytoskeleton|cytosol|extracellular region	actin binding			endometrium(3)|lung(5)|ovary(2)|pancreas(1)|urinary_tract(1)	12				STAD - Stomach adenocarcinoma(129;0.000703)|Colorectal(103;0.0057)|LUSC - Lung squamous cell carcinoma(721;0.0232)		GTGGCCAGCCGGTATGGCCGG	0.517													3	42					0	0	1	0	0	A	10099412	G	A	10099412	3	1	81	1	0	0	0	0	1	0	0	0	17332	1115	39	1	1383	1	WDR1	4	10099412	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	19900	10099412	181054864	3699	7315											
ZNF518B	85460	broad.mit.edu	37	4	10445301	10445301	+	Silent	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:10445301A>C	ENST00000326756.3	-	3	3090	c.2652T>G	c.(2650-2652)ctT>ctG	p.L884L		NM_053042.2	NP_444270.2	Q9C0D4	Z518B_HUMAN	zinc finger protein 518B	884					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						TACTTATAGAAAGACTTCTGG	0.398													20	52					0	0	1	0	0	C	10445301	A	C	10445301	2	2	81	1	0	0	0	0	0	0	0	1	18020	1	1	5		5	ZNF518B	4	10445301	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	345889	10445301	180708975	3700	7316											
ZNF518B	85460	broad.mit.edu	37	4	10446802	10446802	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:10446802C>T	ENST00000326756.3	-	3	1589	c.1151G>A	c.(1150-1152)cGt>cAt	p.R384H		NM_053042.2	NP_444270.2	Q9C0D4	Z518B_HUMAN	zinc finger protein 518B	384					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						TTTCACCATACGTTCAGAATT	0.413													81	167					0	0	1	0	0	T	10446802	C	T	10446802	3	4	81	1	0	0	0	0	1	0	0	0	18020	536	19	1	2077	1	ZNF518B	4	10446802	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1501	10446802	180707474	3701	7317											
ZNF518B	85460	broad.mit.edu	37	4	10446900	10446900	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:10446900C>A	ENST00000326756.3	-	3	1491	c.1053G>T	c.(1051-1053)aaG>aaT	p.K351N		NM_053042.2	NP_444270.2	Q9C0D4	Z518B_HUMAN	zinc finger protein 518B	351					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						CATTGACAACCTTCACATCTA	0.448													5	112					0.0215528	0.0221217	1	1	0	A	10446900	C	A	10446900	3	1	81	1	0	0	0	0	1	0	0	0	18020	680	24	4	2175	4	ZNF518B	4	10446900	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	98	10446900	180707376	3702	7318											
CLNK	116449	broad.mit.edu	37	4	10560053	10560053	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:10560053G>A	ENST00000226951.6	-	8	662	c.423C>T	c.(421-423)gaC>gaT	p.D141D	CLNK_ENST00000442825.2_Silent_p.D99D|CLNK_ENST00000507719.1_Silent_p.D99D	NM_052964.2	NP_443196.2	Q7Z7G1	CLNK_HUMAN	cytokine-dependent hematopoietic cell linker	141					immune response|intracellular signal transduction	intracellular	SH3/SH2 adaptor activity			NS(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(1)	17						GGCTTCTGACGTCCTTGGAAA	0.383													7	93					0	0	1	0	0	A	10560053	G	A	10560053	2	1	81	1	0	0	0	0	0	0	0	1	3570	1136	40	1		1	CLNK	4	10560053	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	113153	10560053	180594223	3703	7319											
CLNK	116449	broad.mit.edu	37	4	10566361	10566361	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:10566361C>T	ENST00000226951.6	-	7	572	c.333G>A	c.(331-333)ccG>ccA	p.P111P	CLNK_ENST00000442825.2_Silent_p.P69P|CLNK_ENST00000507719.1_Silent_p.P69P	NM_052964.2	NP_443196.2	Q7Z7G1	CLNK_HUMAN	cytokine-dependent hematopoietic cell linker	111					immune response|intracellular signal transduction	intracellular	SH3/SH2 adaptor activity			NS(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(1)	17						TGGTGTCTAACGGAAGGGGAG	0.433													15	23					0	0	1	0	0	T	10566361	C	T	10566361	2	4	81	1	0	0	0	0	0	0	0	1	3570	523	19	1		1	CLNK	4	10566361	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	6308	10566361	180587915	3704	7320											
FGFBP2	83888	broad.mit.edu	37	4	15964500	15964500	+	Missense_Mutation	SNP	C	C	T	rs111244757		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:15964500C>T	ENST00000259989.6	-	1	359	c.253G>A	c.(253-255)Gct>Act	p.A85T	FGFBP2_ENST00000509331.1_Intron	NM_031950.3	NP_114156.1	Q9BYJ0	FGFP2_HUMAN	fibroblast growth factor binding protein 2	85						extracellular space	growth factor binding			central_nervous_system(1)|lung(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	9						GGGTCAGCAGCGAAAGCCTGG	0.622													15	22					0	0	1	0	0	T	15964500	C	T	15964500	3	4	81	1	0	0	0	0	1	0	0	0	5894	768	27	1	422	1	FGFBP2	4	15964500	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	5398139	15964500	175189776	3705	7321											
PROM1	8842	broad.mit.edu	37	4	15985894	15985894	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:15985894C>T	ENST00000505450.1	-	22	2950	c.2338G>A	c.(2338-2340)Gac>Aac	p.D780N	PROM1_ENST00000539194.1_Missense_Mutation_p.D789N|PROM1_ENST00000447510.2_Missense_Mutation_p.D789N|PROM1_ENST00000543373.1_Missense_Mutation_p.D780N|PROM1_ENST00000510224.1_Missense_Mutation_p.D789N|PROM1_ENST00000540805.1_Missense_Mutation_p.D789N|PROM1_ENST00000508167.1_Missense_Mutation_p.D780N	NM_001145848.1	NP_001139320.1	O43490	PROM1_HUMAN	prominin 1	789					camera-type eye photoreceptor cell differentiation|photoreceptor cell maintenance|retina layer formation	apical plasma membrane|cell surface|integral to plasma membrane|microvillus membrane|photoreceptor outer segment membrane|plasma membrane	beta-actinin binding|cadherin binding			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|liver(1)|lung(11)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(2)	35						ACCAAGGGGTCGATAATGTAG	0.393													6	8					0	0	1	0	0	T	15985894	C	T	15985894	3	4	81	1	0	0	0	0	1	0	0	0	12607	884	31	1	252	1	PROM1	4	15985894	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	21394	15985894	175168382	3706	7322											
LDB2	9079	broad.mit.edu	37	4	16504355	16504355	+	Missense_Mutation	SNP	C	C	T	rs138614817		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:16504355C>T	ENST00000304523.5	-	8	1356	c.1033G>A	c.(1033-1035)Gcg>Acg	p.A345T	LDB2_ENST00000441778.2_3'UTR|LDB2_ENST00000515064.1_Missense_Mutation_p.A343T|LDB2_ENST00000502640.1_3'UTR|RP11-446J8.1_ENST00000512370.1_RNA	NM_001290.3	NP_001281.1	O43679	LDB2_HUMAN	LIM domain binding 2	345							LIM domain binding|transcription cofactor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(23)|urinary_tract(1)	33						TTCCCCAGCGCGGGTGAATTG	0.532													16	173					0	0	1	0	0	T	16504355	C	T	16504355	3	4	81	1	0	0	0	0	1	0	0	0	8735	768	27	1	92	1	LDB2	4	16504355	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	518461	16504355	174649921	3707	7323											
QDPR	5860	broad.mit.edu	37	4	17492298	17492298	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:17492298C>A	ENST00000281243.5	-	6	795	c.616G>T	c.(616-618)Gaa>Taa	p.E206*	QDPR_ENST00000428702.2_Nonsense_Mutation_p.E175*|QDPR_ENST00000508623.1_Intron|QDPR_ENST00000513615.1_3'UTR	NM_000320.2	NP_000311.2	P09417	DHPR_HUMAN	quinoid dihydropteridine reductase	206					dihydrobiopterin metabolic process|L-phenylalanine catabolic process|tetrahydrobiopterin biosynthetic process	cytosol	6,7-dihydropteridine reductase activity|binding|electron carrier activity			autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	13					NADH(DB00157)	ACTAGGAATTCTAAGGGTGTC	0.507													7	17					0.0381472	0.0389402	1	1	0	A	17492298	C	A	17492298	4	1	81	1	0	0	0	0	0	1	0	0	12924	922	32	4	126	4	QDPR	4	17492298	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	987943	17492298	173661978	3708	7324											
CLRN2	645104	broad.mit.edu	37	4	17528511	17528511	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:17528511G>A	ENST00000511148.2	+	3	607	c.505G>A	c.(505-507)Gcc>Acc	p.A169T		NM_001079827.2	NP_001073296.1	A0PK11	CLRN2_HUMAN	clarin 2	169						integral to membrane				breast(1)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|upper_aerodigestive_tract(1)	15						GGAACGAATCGCCAACTTTCA	0.537													4	50					0	0	1	0	0	A	17528511	G	A	17528511	3	1	81	1	0	0	0	0	1	0	0	0	3581	1087	38	1	515	1	CLRN2	4	17528511	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	36213	17528511	173625765	3709	7325											
LAP3	51056	broad.mit.edu	37	4	17609105	17609105	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:17609105G>A	ENST00000226299.4	+	13	1727	c.1453G>A	c.(1453-1455)Gtg>Atg	p.V485M	LAP3_ENST00000606142.1_Missense_Mutation_p.V454M|AC006160.5_ENST00000511010.1_RNA|LAP3_ENST00000503467.1_3'UTR	NM_015907.2	NP_056991.2	P28838	AMPL_HUMAN	leucine aminopeptidase 3	485					proteolysis	nucleus	aminopeptidase activity|magnesium ion binding|manganese ion binding|metalloexopeptidase activity|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|urinary_tract(1)	20						CATAGCAGGCGTGATGACCAA	0.448													34	53					0	0	1	0	0	A	17609105	G	A	17609105	3	1	81	1	0	0	0	0	1	0	0	0	8662	1145	40	1	1503	1	LAP3	4	17609105	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	80594	17609105	173545171	3710	7326											
MED28	80306	broad.mit.edu	37	4	17623272	17623273	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:17623272_17623273insA	ENST00000237380.7	+	3	313_314	c.289_290insA	c.(289-291)caafs	p.Q97fs		NM_025205.3	NP_079481.2	Q9H204	MED28_HUMAN	mediator complex subunit 28						regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|membrane|nucleus	actin binding			lung(6)|skin(2)	8						TTTTTTCTTACAAAAAAGATTG	0.337													33	61	---	---	---	---						A	17623273	-	A	17623272	7	5	81	1	0	1	1	0	0	0	0	0	9496	479	17	0	299	0	MED28	4	17623272	Frame_Shift_Ins	INS	-	TCGA-DU-6392-01A-11D-1705-08	14167	17623272	173531004	3711	7327											
MED28	80306	broad.mit.edu	37	4	17625336	17625336	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:17625336A>G	ENST00000237380.7	+	4	476	c.452A>G	c.(451-453)aAa>aGa	p.K151R		NM_025205.3	NP_079481.2	Q9H204	MED28_HUMAN	mediator complex subunit 28						regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|membrane|nucleus	actin binding			lung(6)|skin(2)	8						GTGCAGCACAAAAAGCCCGCC	0.557													4	35					0	0	1	0	0	G	17625336	A	G	17625336	3	3	81	1	0	0	0	0	1	0	0	0	9496	14	1	3	466	3	MED28	4	17625336	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	2064	17625336	173528940	3712	7328											
SLIT2	9353	broad.mit.edu	37	4	20512133	20512133	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:20512133C>T	ENST00000504154.1	+	10	1182	c.930C>T	c.(928-930)aaC>aaT	p.N310N	SLIT2_ENST00000503823.1_Silent_p.N310N|SLIT2_ENST00000273739.5_Silent_p.N314N|SLIT2_ENST00000503837.1_Silent_p.N314N	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	310					apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						TGGAACAGAACACAATCAAAG	0.323													8	78					0	0	1	0	0	T	20512133	C	T	20512133	2	4	81	1	0	0	0	0	0	0	0	1	14794	477	17	2		2	SLIT2	4	20512133	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2886797	20512133	170642143	3713	7329											
SLIT2	9353	broad.mit.edu	37	4	20619166	20619166	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:20619166A>G	ENST00000504154.1	+	36	4493	c.4241A>G	c.(4240-4242)aAc>aGc	p.N1414S	SLIT2_ENST00000503823.1_Missense_Mutation_p.N1406S|SLIT2_ENST00000273739.5_Missense_Mutation_p.N1427S|SLIT2_ENST00000503837.1_Missense_Mutation_p.N1410S	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	1414					apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						GATCTGTTTAACCCATGCCAG	0.552													16	12					0	0	1	0	0	G	20619166	A	G	20619166	3	3	81	1	0	0	0	0	1	0	0	0	14794	43	2	3	4383	3	SLIT2	4	20619166	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	107033	20619166	170535110	3714	7330											
PACRGL	133015	broad.mit.edu	37	4	20711343	20711343	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:20711343G>A	ENST00000360916.5	+	5	704	c.313G>A	c.(313-315)Gaa>Aaa	p.E105K	PACRGL_ENST00000295290.8_Missense_Mutation_p.E105K|PACRGL_ENST00000502374.1_Intron|PACRGL_ENST00000502938.1_Intron|PACRGL_ENST00000538990.1_Intron|PACRGL_ENST00000513459.1_Intron|PACRGL_ENST00000444671.2_Intron|PACRGL_ENST00000507634.1_Missense_Mutation_p.E105K|PACRGL_ENST00000503585.1_Missense_Mutation_p.E105K	NM_145048.3	NP_659485.1	Q8N7B6	PACRL_HUMAN	PARK2 co-regulated-like	105							binding			endometrium(2)|lung(7)|prostate(1)	10						ATTACAGTGGGAATGTCCTCC	0.289													30	58					0	0	1	0	0	A	20711343	G	A	20711343	3	1	81	1	0	0	0	0	1	0	0	0	11418	1175	41	2	327	2	PACRGL	4	20711343	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	92177	20711343	170442933	3715	7331											
KCNIP4	80333	broad.mit.edu	37	4	20733666	20733666	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:20733666A>G	ENST00000382148.3	-	7	929	c.593T>C	c.(592-594)gTt>gCt	p.V198A	KCNIP4_ENST00000447367.2_Missense_Mutation_p.V189A|KCNIP4_ENST00000509207.1_Missense_Mutation_p.V161A|KCNIP4_ENST00000382152.2_Missense_Mutation_p.V223A|KCNIP4_ENST00000382150.4_Missense_Mutation_p.V202A|KCNIP4_ENST00000359001.5_Missense_Mutation_p.V161A|PACRGL_ENST00000507634.1_Intron|KCNIP4_ENST00000382149.4_5'UTR	NM_001035003.1	NP_001030175.1	Q6PIL6	KCIP4_HUMAN	Kv channel interacting protein 4	223						plasma membrane	calcium ion binding|potassium channel activity|protein binding|voltage-gated ion channel activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13		Breast(46;0.134)				TATGGTAACAACCCCATCTTT	0.338													5	49					0	0	1	0	0	G	20733666	A	G	20733666	3	3	81	1	0	0	0	0	1	0	0	0	8086	43	2	3	92	3	KCNIP4	4	20733666	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	22323	20733666	170420610	3716	7332											
GPR125	166647	broad.mit.edu	37	4	22438079	22438079	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:22438079A>T	ENST00000334304.5	-	9	1540	c.1271T>A	c.(1270-1272)cTt>cAt	p.L424H	GPR125_ENST00000508133.1_Missense_Mutation_p.L198H|GPR125_ENST00000502482.1_Missense_Mutation_p.L424H|GPR125_ENST00000282943.5_5'UTR	NM_145290.3	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	424					neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				AAACATATAAAGAACTCTAGT	0.353													4	44					0	0	1	0	0	T	22438079	A	T	22438079	3	4	81	1	0	0	0	0	1	0	0	0	6679	72	3	5	2738	5	GPR125	4	22438079	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	1704413	22438079	168716197	3717	7333											
GBA3	57733	broad.mit.edu	37	4	22729372	22729372	+	RNA	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:22729372G>A	ENST00000508166.1	+	0	160				GBA3_ENST00000503442.1_RNA|GBA3_ENST00000511446.2_RNA	NM_020973.4	NP_066024.1	Q9H227	GBA3_HUMAN	glucosidase, beta, acid 3 (gene/pseudogene)						glycoside catabolic process|glycosylceramide catabolic process	cytosol	beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity			breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						CTCAGCGGTCGTAATCTGTCA	0.398													66	98					0	0	1	0	0	A	22729372	G	A	22729372	1	1	81	0	1	0	0	0	0	0	0	0	6308	1160	40	1		1	GBA3	4	22729372	RNA	SNP	G	TCGA-DU-6392-01A-11D-1705-08	291293	22729372	168424904	3718	7334											
GBA3	57733	broad.mit.edu	37	4	22729544	22729544	+	RNA	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:22729544G>A	ENST00000508166.1	+	0	160				GBA3_ENST00000503442.1_RNA|GBA3_ENST00000511446.2_RNA	NM_020973.4	NP_066024.1	Q9H227	GBA3_HUMAN	glucosidase, beta, acid 3 (gene/pseudogene)						glycoside catabolic process|glycosylceramide catabolic process	cytosol	beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity			breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						CAGCACCATCGCCCACAACAA	0.403													32	41					0	0	1	0	0	A	22729544	G	A	22729544	1	1	81	0	1	0	0	0	0	0	0	0	6308	1102	38	1		1	GBA3	4	22729544	RNA	SNP	G	TCGA-DU-6392-01A-11D-1705-08	172	22729544	168424732	3719	7335											
PPARGC1A	10891	broad.mit.edu	37	4	23803420	23803420	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:23803420G>A	ENST00000264867.2	-	12	2345	c.2226C>T	c.(2224-2226)aaC>aaT	p.N742N	PPARGC1A_ENST00000509702.1_5'UTR	NM_013261.3	NP_037393.1	Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 alpha	742	RRM.				androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription cofactor activity|transcription factor binding			central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51		Breast(46;0.0503)				AGTCAGTTTCGTTTGACCTGC	0.413													7	45					0	0	1	0	0	A	23803420	G	A	23803420	2	1	81	1	0	0	0	0	0	0	0	1	12345	1136	40	1		1	PPARGC1A	4	23803420	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1073876	23803420	167350856	3720	7336											
PPARGC1A	10891	broad.mit.edu	37	4	23814673	23814673	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:23814673A>G	ENST00000264867.2	-	9	1988	c.1869T>C	c.(1867-1869)cgT>cgC	p.R623R	PPARGC1A_ENST00000509702.1_5'UTR	NM_013261.3	NP_037393.1	Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 alpha	623	Arg/Ser-rich.				androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription cofactor activity|transcription factor binding			central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51		Breast(46;0.0503)				GCGATCTTGAACGTGATCTCA	0.483													34	68					0	0	1	0	0	G	23814673	A	G	23814673	2	3	81	1	0	0	0	0	0	0	0	1	12345	30	2	3		3	PPARGC1A	4	23814673	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	11253	23814673	167339603	3721	7337											
PPARGC1A	10891	broad.mit.edu	37	4	23815351	23815351	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:23815351C>T	ENST00000264867.2	-	8	1874	c.1755G>A	c.(1753-1755)agG>agA	p.R585R	PPARGC1A_ENST00000509702.1_5'UTR	NM_013261.3	NP_037393.1	Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 alpha	585	Arg/Ser-rich.				androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription cofactor activity|transcription factor binding			central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51		Breast(46;0.0503)				TTGATCTTGACCTGGAATATG	0.428													13	24					0	0	1	0	0	T	23815351	C	T	23815351	2	4	81	1	0	0	0	0	0	0	0	1	12345	506	18	2		2	PPARGC1A	4	23815351	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	678	23815351	167338925	3722	7338											
PPARGC1A	10891	broad.mit.edu	37	4	23886363	23886363	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:23886363G>T	ENST00000507380.1	-	2	323	c.246C>A	c.(244-246)tcC>tcA	p.S82S	PPARGC1A_ENST00000264867.2_Intron			Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 alpha	0					androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription cofactor activity|transcription factor binding			central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51		Breast(46;0.0503)				TGTTTCCAAAGGATGTCCTTA	0.383													5	53					0.0215528	0.0221217	1	1	0	T	23886363	G	T	23886363	2	4	81	1	0	0	0	0	0	0	0	1	12345	1015	35	4		4	PPARGC1A	4	23886363	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	71012	23886363	167267913	3723	7339											
LGI2	55203	broad.mit.edu	37	4	25005147	25005147	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:25005147C>A	ENST00000382114.4	-	8	1749	c.1564G>T	c.(1564-1566)Gat>Tat	p.D522Y		NM_018176.3	NP_060646.2	Q8N0V4	LGI2_HUMAN	leucine-rich repeat LGI family, member 2	522						extracellular region				breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(2)	33		Breast(46;0.173)				AAAAAGAAATCTCTCCTGTCG	0.393													5	48					0.000602214	0.000646338	1	1	0	A	25005147	C	A	25005147	3	1	81	1	0	0	0	0	1	0	0	0	8792	913	32	4	77	4	LGI2	4	25005147	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1118784	25005147	166149129	3724	7340											
LGI2	55203	broad.mit.edu	37	4	25005708	25005708	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:25005708C>T	ENST00000382114.4	-	8	1188	c.1003G>A	c.(1003-1005)Gac>Aac	p.D335N		NM_018176.3	NP_060646.2	Q8N0V4	LGI2_HUMAN	leucine-rich repeat LGI family, member 2	335						extracellular region				breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(2)	33		Breast(46;0.173)				GTCTCGTCGTCGATCTGAAAC	0.438													37	64					0	0	1	0	0	T	25005708	C	T	25005708	3	4	81	1	0	0	0	0	1	0	0	0	8792	884	31	1	638	1	LGI2	4	25005708	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	561	25005708	166148568	3725	7341											
LGI2	55203	broad.mit.edu	37	4	25013964	25013964	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:25013964G>A	ENST00000382114.4	-	7	998	c.813C>T	c.(811-813)aaC>aaT	p.N271N		NM_018176.3	NP_060646.2	Q8N0V4	LGI2_HUMAN	leucine-rich repeat LGI family, member 2	271						extracellular region				breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(2)	33		Breast(46;0.173)				CACCTGTAATGTTGTCATAGC	0.512													28	60					0	0	1	0	0	A	25013964	G	A	25013964	2	1	81	1	0	0	0	0	0	0	0	1	8792	1368	48	2		2	LGI2	4	25013964	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	8256	25013964	166140312	3726	7342											
PI4K2B	55300	broad.mit.edu	37	4	25258202	25258202	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:25258202C>T	ENST00000264864.6	+	4	851	c.662C>T	c.(661-663)gCg>gTg	p.A221V	PI4K2B_ENST00000512921.1_Missense_Mutation_p.A125V	NM_018323.3	NP_060793.2	Q8TCG2	P4K2B_HUMAN	phosphatidylinositol 4-kinase type 2 beta	221	PI3K/PI4K.					cytoplasm|membrane	1-phosphatidylinositol 4-kinase activity|ATP binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(3)|skin(3)	15		Breast(46;0.173)				AACTATAATGCGATTGACCGT	0.353													33	59					0	0	1	0	0	T	25258202	C	T	25258202	3	4	81	1	0	0	0	0	1	0	0	0	11920	768	27	1	676	1	PI4K2B	4	25258202	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	244238	25258202	165896074	3727	7343											
SLC34A2	10568	broad.mit.edu	37	4	25667852	25667852	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:25667852G>A	ENST00000382051.3	+	5	532	c.482G>A	c.(481-483)aGc>aAc	p.S161N	SLC34A2_ENST00000510033.2_3'UTR|SLC34A2_ENST00000504570.1_Missense_Mutation_p.S160N|SLC34A2_ENST00000503434.1_Missense_Mutation_p.S160N	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415	O95436	NPT2B_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 2	161					cellular phosphate ion homeostasis	apical plasma membrane|brush border membrane|integral to plasma membrane	phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity		SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				CAGAGCTCCAGCACCTCAACG	0.547			T	ROS1	NSCLC								33	54					0	0	1	0	0	A	25667852	G	A	25667852	3	1	81	1	0	0	0	0	1	0	0	0	14623	971	34	2	496	2	SLC34A2	4	25667852	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	409650	25667852	165486424	3728	7344											
SLC34A2	10568	broad.mit.edu	37	4	25676131	25676131	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:25676131C>T	ENST00000382051.3	+	12	1388	c.1338C>T	c.(1336-1338)atC>atT	p.I446I	SLC34A2_ENST00000504570.1_Silent_p.I445I|SLC34A2_ENST00000503434.1_Silent_p.I445I	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415	O95436	NPT2B_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 2	446					cellular phosphate ion homeostasis	apical plasma membrane|brush border membrane|integral to plasma membrane	phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity		SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				CCCCAGGAATCGGCGTGATAA	0.567			T	ROS1	NSCLC								39	61					0	0	1	0	0	T	25676131	C	T	25676131	2	4	81	1	0	0	0	0	0	0	0	1	14623	874	31	1		1	SLC34A2	4	25676131	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	8279	25676131	165478145	3729	7345											
SLC34A2	10568	broad.mit.edu	37	4	25678251	25678251	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:25678251G>A	ENST00000382051.3	+	13	2003	c.1953G>A	c.(1951-1953)gcG>gcA	p.A651A	SLC34A2_ENST00000504570.1_Silent_p.A650A|SLC34A2_ENST00000503434.1_Silent_p.A650A	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415	O95436	NPT2B_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 2	651					cellular phosphate ion homeostasis	apical plasma membrane|brush border membrane|integral to plasma membrane	phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity		SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				TGGAGGAGGCGCAGGAGGGGC	0.617			T	ROS1	NSCLC								9	15					0	0	1	0	0	A	25678251	G	A	25678251	2	1	81	1	0	0	0	0	0	0	0	1	14623	1074	38	1		1	SLC34A2	4	25678251	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2120	25678251	165476025	3730	7346											
SEL1L3	23231	broad.mit.edu	37	4	25789846	25789846	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:25789846C>A	ENST00000399878.3	-	13	2339	c.2217G>T	c.(2215-2217)aaG>aaT	p.K739N	SEL1L3_ENST00000264868.5_Splice_Site_p.K704N|SEL1L3_ENST00000502949.1_Splice_Site_p.K586N	NM_015187.3	NP_056002.2	Q68CR1	SE1L3_HUMAN	sel-1 suppressor of lin-12-like 3 (C. elegans)	739						integral to membrane	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						TGATTCTTACCTTGAATAGCA	0.493													51	101					4.33383e-22	5.68845e-22	1	1	0	A	25789846	C	A	25789846	5	1	81	1	0	0	0	0	0	0	1	0	14066	695	24	4	1229	4	SEL1L3	4	25789846	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	111595	25789846	165364430	3731	7347											
SEL1L3	23231	broad.mit.edu	37	4	25792082	25792082	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:25792082C>T	ENST00000399878.3	-	12	2193	c.2071G>A	c.(2071-2073)Gct>Act	p.A691T	SEL1L3_ENST00000264868.5_Missense_Mutation_p.A656T|SEL1L3_ENST00000502949.1_Missense_Mutation_p.A538T	NM_015187.3	NP_056002.2	Q68CR1	SE1L3_HUMAN	sel-1 suppressor of lin-12-like 3 (C. elegans)	691						integral to membrane	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						TTTACCTGAGCTGCTGCATTG	0.423													18	26					0	0	1	0	0	T	25792082	C	T	25792082	3	4	81	1	0	0	0	0	1	0	0	0	14066	797	28	2	1379	2	SEL1L3	4	25792082	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2236	25792082	165362194	3732	7348	32	2									
SEL1L3	23231	broad.mit.edu	37	4	25792085	25792085	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:25792085C>T	ENST00000399878.3	-	12	2190	c.2068G>A	c.(2068-2070)Gca>Aca	p.A690T	SEL1L3_ENST00000264868.5_Missense_Mutation_p.A655T|SEL1L3_ENST00000502949.1_Missense_Mutation_p.A537T	NM_015187.3	NP_056002.2	Q68CR1	SE1L3_HUMAN	sel-1 suppressor of lin-12-like 3 (C. elegans)	690						integral to membrane	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						ACCTGAGCTGCTGCATTGCCT	0.428													23	25					0	0	1	0	0	T	25792085	C	T	25792085	3	4	81	1	0	0	0	0	1	0	0	0	14066	797	28	2	1382	2	SEL1L3	4	25792085	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3	25792085	165362191	3733	7349	32	2									
SEL1L3	23231	broad.mit.edu	37	4	25819872	25819872	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:25819872G>A	ENST00000399878.3	-	9	1574	c.1452C>T	c.(1450-1452)ctC>ctT	p.L484L	SEL1L3_ENST00000264868.5_Silent_p.L449L|SEL1L3_ENST00000502949.1_Silent_p.L331L	NM_015187.3	NP_056002.2	Q68CR1	SE1L3_HUMAN	sel-1 suppressor of lin-12-like 3 (C. elegans)	484						integral to membrane	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						ACCTGCGCTGGAGGTCCAGGT	0.547													5	4					0	0	1	0	0	A	25819872	G	A	25819872	2	1	81	1	0	0	0	0	0	0	0	1	14066	1161	41	2		2	SEL1L3	4	25819872	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	27787	25819872	165334404	3734	7350											
SEL1L3	23231	broad.mit.edu	37	4	25835087	25835087	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:25835087A>G	ENST00000399878.3	-	4	1087	c.965T>C	c.(964-966)gTa>gCa	p.V322A	SEL1L3_ENST00000264868.5_Missense_Mutation_p.V287A|SEL1L3_ENST00000502949.1_Missense_Mutation_p.V169A|SEL1L3_ENST00000513364.1_5'UTR	NM_015187.3	NP_056002.2	Q68CR1	SE1L3_HUMAN	sel-1 suppressor of lin-12-like 3 (C. elegans)	322						integral to membrane	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						CGTAAGAAATACAGAAGGTGT	0.373													12	19					0	0	1	0	0	G	25835087	A	G	25835087	3	3	81	1	0	0	0	0	1	0	0	0	14066	391	14	3	2517	3	SEL1L3	4	25835087	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	15215	25835087	165319189	3735	7351											
CCKAR	886	broad.mit.edu	37	4	26483461	26483461	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:26483461G>T	ENST00000295589.3	-	5	1280	c.1086C>A	c.(1084-1086)tcC>tcA	p.S362S		NM_000730.2	NP_000721.1	P32238	CCKAR_HUMAN	cholecystokinin A receptor	362					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration|response to nutrient	integral to plasma membrane	cholecystokinin receptor activity			NS(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|pancreas(1)|skin(1)	29		Breast(46;0.0503)			Ceruletide(DB00403)	TGACGCAGGAGGAGGTGTAGG	0.632													35	67					2.42023e-17	3.11933e-17	1	1	0	T	26483461	G	T	26483461	2	4	81	1	0	0	0	0	0	0	0	1	2900	987	35	4		4	CCKAR	4	26483461	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	648374	26483461	164670815	3736	7352											
CCKAR	886	broad.mit.edu	37	4	26490892	26490892	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:26490892G>A	ENST00000295589.3	-	2	521	c.327C>T	c.(325-327)ttC>ttT	p.F109F		NM_000730.2	NP_000721.1	P32238	CCKAR_HUMAN	cholecystokinin A receptor	109					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration|response to nutrient	integral to plasma membrane	cholecystokinin receptor activity	p.F109F(1)		NS(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|pancreas(1)|skin(1)	29		Breast(46;0.0503)			Ceruletide(DB00403)	CGGCGCTCCCGAAGATGAAAT	0.557													52	81					0	0	1	0	0	A	26490892	G	A	26490892	2	1	81	1	0	0	0	0	0	0	0	1	2900	1049	37	1		1	CCKAR	4	26490892	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	7431	26490892	164663384	3737	7353											
TBC1D19	55296	broad.mit.edu	37	4	26640404	26640404	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:26640404A>G	ENST00000264866.4	+	6	659	c.381A>G	c.(379-381)ggA>ggG	p.G127G	TBC1D19_ENST00000511789.1_Silent_p.G62G|TBC1D19_ENST00000515568.1_3'UTR	NM_018317.2	NP_060787.2	Q8N5T2	TBC19_HUMAN	TBC1 domain family, member 19	127						intracellular	Rab GTPase activator activity			breast(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	17		Breast(46;0.0503)				GGCCAGTTGGAGAACAGAAAG	0.303													24	43					0	0	1	0	0	G	26640404	A	G	26640404	2	3	81	1	0	0	0	0	0	0	0	1	15664	291	11	3		3	TBC1D19	4	26640404	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	149512	26640404	164513872	3738	7354											
TBC1D19	55296	broad.mit.edu	37	4	26750113	26750113	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:26750113G>T	ENST00000264866.4	+	19	1678	c.1400G>T	c.(1399-1401)aGa>aTa	p.R467I	TBC1D19_ENST00000511789.1_Missense_Mutation_p.R402I	NM_018317.2	NP_060787.2	Q8N5T2	TBC19_HUMAN	TBC1 domain family, member 19	467	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			breast(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	17		Breast(46;0.0503)				TTATGGGATAGAATCCTAGGA	0.368													36	92					6.97489e-18	9.02363e-18	1	1	0	T	26750113	G	T	26750113	3	4	81	1	0	0	0	0	1	0	0	0	15664	942	33	4	1474	4	TBC1D19	4	26750113	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	109709	26750113	164404163	3739	7355											
STIM2	57620	broad.mit.edu	37	4	27010624	27010624	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:27010624G>A	ENST00000382009.3	+	11	2041	c.1774G>A	c.(1774-1776)Ggg>Agg	p.G592R	STIM2_ENST00000467011.1_Splice_Site_p.G497R|STIM2_ENST00000237364.5_Splice_Site_p.G584R|STIM2_ENST00000465503.1_Splice_Site_p.G505R|STIM2_ENST00000412829.2_Splice_Site_p.G584R|STIM2_ENST00000467087.1_Splice_Site_p.G497R	NM_001169118.1	NP_001162589.1	Q9P246	STIM2_HUMAN	stromal interaction molecule 2	497					activation of store-operated calcium channel activity|calcium ion transport|cellular calcium ion homeostasis|negative regulation of calcium ion transport via store-operated calcium channel activity	endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium channel regulator activity|calcium ion binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	25		Breast(46;0.0503)				ACAATTTCCCGGTAAGTGGCA	0.408													19	61					0	0	1	0	0	A	27010624	G	A	27010624	5	1	81	1	0	0	0	0	0	0	1	0	15340	1130	39	1	1555	1	STIM2	4	27010624	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	260511	27010624	164143652	3740	7356											
PCDH7	5099	broad.mit.edu	37	4	30725518	30725518	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:30725518G>T	ENST00000361762.2	+	1	3482	c.2474G>T	c.(2473-2475)gGg>gTg	p.G825V	PCDH7_ENST00000543491.1_Missense_Mutation_p.G825V	NM_002589.2	NP_002580.2	O60245	PCDH7_HUMAN	protocadherin 7	825	Cadherin 7.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						AATGACAGTGGGCAGCCTTCC	0.473													6	19					0.00116845	0.00124301	1	1	0	T	30725518	G	T	30725518	3	4	81	1	0	0	0	0	1	0	0	0	11563	1232	43	5	2476	5	PCDH7	4	30725518	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	3714894	30725518	160428758	3741	7357											
ARAP2	116984	broad.mit.edu	37	4	36093627	36093627	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:36093627C>A	ENST00000303965.4	-	28	4790	c.4301G>T	c.(4300-4302)gGa>gTa	p.G1434V		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	1434	PH 5.				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						TTTGATGCTTCCCAGTGTACT	0.328													6	142					0.00621372	0.00649472	1	1	0	A	36093627	C	A	36093627	3	1	81	1	0	0	0	0	1	0	0	0	836	855	30	5	837	5	ARAP2	4	36093627	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	5368109	36093627	155060649	3742	7358											
ARAP2	116984	broad.mit.edu	37	4	36134931	36134931	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:36134931C>T	ENST00000303965.4	-	20	3833	c.3344G>A	c.(3343-3345)gGt>gAt	p.G1115D		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	1115					regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						TAAAGCATTACCATCTGTACC	0.378													23	43					0	0	1	0	0	T	36134931	C	T	36134931	3	4	81	1	0	0	0	0	1	0	0	0	836	507	18	2	1826	2	ARAP2	4	36134931	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	41304	36134931	155019345	3743	7359											
C4orf19	55286	broad.mit.edu	37	4	37591844	37591844	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:37591844C>T	ENST00000284437.6	+	3	345	c.167C>T	c.(166-168)cCt>cTt	p.P56L	C4orf19_ENST00000381980.4_Missense_Mutation_p.P56L|C4orf19_ENST00000508175.1_Intron	NM_018302.2	NP_060772.2	Q8IY42	CD019_HUMAN	chromosome 4 open reading frame 19	56										large_intestine(1)|lung(3)|skin(3)|stomach(1)|urinary_tract(1)	9						AAAAATGACCCTCAGAGGCAG	0.532													61	106					0	0	1	0	0	T	37591844	C	T	37591844	3	4	81	1	0	0	0	0	1	0	0	0	2268	681	24	2	173	2	C4orf19	4	37591844	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1456913	37591844	153562432	3744	7360											
PGM2	55276	broad.mit.edu	37	4	37841824	37841824	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:37841824C>T	ENST00000381967.4	+	6	762	c.662C>T	c.(661-663)cCg>cTg	p.P221L	PGM2_ENST00000544359.1_Missense_Mutation_p.P82L|PGM2_ENST00000537241.1_Missense_Mutation_p.P61L	NM_018290.3	NP_060760.2	Q96G03	PGM2_HUMAN	phosphoglucomutase 2	221					glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	magnesium ion binding|phosphoglucomutase activity|phosphopentomutase activity			breast(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1)	19						CTCCACAATCCGAGTGCTTCC	0.393													8	94					0	0	1	0	0	T	37841824	C	T	37841824	3	4	81	1	0	0	0	0	1	0	0	0	11846	652	23	1	684	1	PGM2	4	37841824	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	249980	37841824	153312452	3745	7361											
PGM2	55276	broad.mit.edu	37	4	37848641	37848641	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:37848641G>A	ENST00000381967.4	+	9	1197	c.1097G>A	c.(1096-1098)cGc>cAc	p.R366H	PGM2_ENST00000544359.1_Missense_Mutation_p.R227H|PGM2_ENST00000537241.1_Missense_Mutation_p.R206H	NM_018290.3	NP_060760.2	Q96G03	PGM2_HUMAN	phosphoglucomutase 2	366					glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	magnesium ion binding|phosphoglucomutase activity|phosphopentomutase activity			breast(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1)	19						AACCAGGATCGCAGTGCTCTC	0.488													16	109					0	0	1	0	0	A	37848641	G	A	37848641	3	1	81	1	0	0	0	0	1	0	0	0	11846	1087	38	1	1131	1	PGM2	4	37848641	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	6817	37848641	153305635	3746	7362											
PGM2	55276	broad.mit.edu	37	4	37857286	37857286	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:37857286G>A	ENST00000381967.4	+	13	1760	c.1660G>A	c.(1660-1662)Gtg>Atg	p.V554M	PGM2_ENST00000537241.1_Missense_Mutation_p.V394M	NM_018290.3	NP_060760.2	Q96G03	PGM2_HUMAN	phosphoglucomutase 2	554					glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	magnesium ion binding|phosphoglucomutase activity|phosphopentomutase activity			breast(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1)	19						TAATGGAGGCGTGGCCACCAT	0.468													5	40					0	0	1	0	0	A	37857286	G	A	37857286	3	1	81	1	0	0	0	0	1	0	0	0	11846	1145	40	1	1710	1	PGM2	4	37857286	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	8645	37857286	153296990	3747	7363											
PGM2	55276	broad.mit.edu	37	4	37863187	37863188	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:37863187_37863188insT	ENST00000381967.4	+	14	1893_1894	c.1793_1794insT	c.(1792-1797)cattttfs	p.HF598fs	PGM2_ENST00000537241.1_Frame_Shift_Ins_p.HF438fs	NM_018290.3	NP_060760.2	Q96G03	PGM2_HUMAN	phosphoglucomutase 2	598					glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	magnesium ion binding|phosphoglucomutase activity|phosphopentomutase activity			breast(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1)	19						ATTGAAGAACATTTTTTCCAGC	0.411													41	168	---	---	---	---						T	37863188	-	T	37863187	7	5	81	1	0	1	1	0	0	0	0	0	11846	217	8	0	1847	0	PGM2	4	37863187	Frame_Shift_Ins	INS	-	TCGA-DU-6392-01A-11D-1705-08	5901	37863187	153291089	3748	7364											
KLF3	51274	broad.mit.edu	37	4	38690303	38690303	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:38690303G>A	ENST00000261438.5	+	3	460	c.155G>A	c.(154-156)gGt>gAt	p.G52D	KLF3_ENST00000514033.1_Missense_Mutation_p.G52D	NM_016531.5	NP_057615.3	P57682	KLF3_HUMAN	Kruppel-like factor 3 (basic)	52	Pro-rich.|Repressor domain.				multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(5)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	18						ACCCCAGAAGGTCTGTCGCAC	0.517													6	48					0	0	1	0	0	A	38690303	G	A	38690303	3	1	81	1	0	0	0	0	1	0	0	0	8390	1261	44	2	161	2	KLF3	4	38690303	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	827116	38690303	152463973	3749	7365											
TLR10	81793	broad.mit.edu	37	4	38776080	38776080	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:38776080T>C	ENST00000308973.4	-	4	1737	c.1132A>G	c.(1132-1134)Att>Gtt	p.I378V	TLR10_ENST00000361424.2_Missense_Mutation_p.I378V|TLR10_ENST00000508334.1_Missense_Mutation_p.I378V|TLR10_ENST00000506111.1_Missense_Mutation_p.I378V	NM_001017388.2|NM_001195107.1|NM_030956.3	NP_001017388.1|NP_001182036.1|NP_112218.2	Q9BXR5	TLR10_HUMAN	toll-like receptor 10	378					inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane	transmembrane receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(2)	25						CCATTCAAAATGAGAGTTTTC	0.333													41	57					0	0	1	0	0	C	38776080	T	C	38776080	3	2	81	1	0	0	0	0	1	0	0	0	16010	1464	51	3	1307	3	TLR10	4	38776080	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	85777	38776080	152378196	3750	7366											
TLR10	81793	broad.mit.edu	37	4	38776140	38776140	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:38776140T>C	ENST00000308973.4	-	4	1677	c.1072A>G	c.(1072-1074)Aat>Gat	p.N358D	TLR10_ENST00000361424.2_Missense_Mutation_p.N358D|TLR10_ENST00000508334.1_Missense_Mutation_p.N358D|TLR10_ENST00000506111.1_Missense_Mutation_p.N358D	NM_001017388.2|NM_001195107.1|NM_030956.3	NP_001017388.1|NP_001182036.1|NP_112218.2	Q9BXR5	TLR10_HUMAN	toll-like receptor 10	358					inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane	transmembrane receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(2)	25						GTTAAGATATTATTGGCAAAA	0.333													10	72					0	0	1	0	0	C	38776140	T	C	38776140	3	2	81	1	0	0	0	0	1	0	0	0	16010	1754	61	3	1367	3	TLR10	4	38776140	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	60	38776140	152378136	3751	7367											
TLR10	81793	broad.mit.edu	37	4	38776289	38776289	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:38776289T>C	ENST00000308973.4	-	4	1528	c.923A>G	c.(922-924)cAt>cGt	p.H308R	TLR10_ENST00000361424.2_Missense_Mutation_p.H308R|TLR10_ENST00000508334.1_Missense_Mutation_p.H308R|TLR10_ENST00000506111.1_Missense_Mutation_p.H308R	NM_001017388.2|NM_001195107.1|NM_030956.3	NP_001017388.1|NP_001182036.1|NP_112218.2	Q9BXR5	TLR10_HUMAN	toll-like receptor 10	308					inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane	transmembrane receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(2)	25						CACTCTGAAATGTACATGCTC	0.343													6	82					0	0	1	0	0	C	38776289	T	C	38776289	3	2	81	1	0	0	0	0	1	0	0	0	16010	1464	51	3	1516	3	TLR10	4	38776289	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	149	38776289	152377987	3752	7368											
TLR1	7096	broad.mit.edu	37	4	38799508	38799508	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:38799508C>T	ENST00000308979.2	-	4	1218	c.945G>A	c.(943-945)ccG>ccA	p.P315P	TLR1_ENST00000502213.2_Silent_p.P315P	NM_003263.3	NP_003254.2	Q15399	TLR1_HUMAN	toll-like receptor 1	315	Interaction with bacterial lipopeptide.		P -> L (in dbSNP:rs5743613).		cellular response to triacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|inflammatory response|innate immune response|macrophage activation|positive regulation of interleukin-6 biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	integral to plasma membrane|phagocytic vesicle membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex	protein heterodimerization activity|transmembrane receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(2)	28						TATAACTTTGCGGAAAACCGA	0.418													21	27					0	0	1	0	0	T	38799508	C	T	38799508	2	4	81	1	0	0	0	0	0	0	0	1	16009	755	27	1		1	TLR1	4	38799508	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	23219	38799508	152354768	3753	7369											
FAM114A1	92689	broad.mit.edu	37	4	38930892	38930892	+	Missense_Mutation	SNP	C	C	T	rs148278995	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:38930892C>T	ENST00000358869.2	+	10	1275	c.1099C>T	c.(1099-1101)Cgc>Tgc	p.R367C	FAM114A1_ENST00000515037.1_Missense_Mutation_p.R160C	NM_138389.2	NP_612398.2	Q8IWE2	NXP20_HUMAN	family with sequence similarity 114, member A1	367			R -> H (in dbSNP:rs2306923).			cytoplasm				haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	20						AGAATTTGCTCGCATGCTTAC	0.413													36	33					0	0	1	0	0	T	38930892	C	T	38930892	3	4	81	1	0	0	0	0	1	0	0	0	5434	884	31	1	1129	1	FAM114A1	4	38930892	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	131384	38930892	152223384	3754	7370											
TMEM156	80008	broad.mit.edu	37	4	38995560	38995560	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:38995560C>A	ENST00000381938.3	-	3	524	c.417G>T	c.(415-417)caG>caT	p.Q139H		NM_024943.1	NP_079219.1	Q8N614	TM156_HUMAN	transmembrane protein 156	139						integral to membrane				endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|stomach(1)	10						AGTTAAAGTGCTGACAAGGTG	0.358													37	46					3.03874e-20	3.96671e-20	1	1	0	A	38995560	C	A	38995560	3	1	81	1	0	0	0	0	1	0	0	0	16133	796	28	4	489	4	TMEM156	4	38995560	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	64668	38995560	152158716	3755	7371											
KLB	152831	broad.mit.edu	37	4	39409299	39409299	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:39409299C>A	ENST00000257408.4	+	1	827	c.730C>A	c.(730-732)Cta>Ata	p.L244I		NM_175737.3	NP_783864.1	Q86Z14	KLOTB_HUMAN	klotho beta	244	Glycosyl hydrolase-1 1.				carbohydrate metabolic process	integral to membrane|plasma membrane	cation binding|fibroblast growth factor binding|hydrolase activity, hydrolyzing O-glycosyl compounds			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|skin(6)	29						CAACCCATATCTAGTGGCTTG	0.428													36	44					2.32173e-10	2.84064e-10	1	1	0	A	39409299	C	A	39409299	3	1	81	1	0	0	0	0	1	0	0	0	8375	912	32	4	732	4	KLB	4	39409299	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	413739	39409299	151744977	3756	7372											
UGDH	7358	broad.mit.edu	37	4	39510268	39510268	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:39510268C>T	ENST00000316423.6	-	7	1166	c.824G>A	c.(823-825)aGc>aAc	p.S275N	UGDH_ENST00000501493.2_Missense_Mutation_p.S208N|UGDH_ENST00000507089.1_Missense_Mutation_p.S178N|UGDH_ENST00000506179.1_Missense_Mutation_p.S275N	NM_001184701.1|NM_003359.3	NP_001171630.1|NP_003350.1	O60701	UGDH_HUMAN	UDP-glucose 6-dehydrogenase	275					glycosaminoglycan biosynthetic process|UDP-glucose metabolic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process	cytosol	electron carrier activity|NAD binding|UDP-glucose 6-dehydrogenase activity			breast(1)|central_nervous_system(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(2)	27					NADH(DB00157)	TTGGAAACAGCTCCCACCAAA	0.358													22	36					0	0	1	0	0	T	39510268	C	T	39510268	3	4	81	1	0	0	0	0	1	0	0	0	17000	797	28	2	684	2	UGDH	4	39510268	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	100969	39510268	151644008	3757	7373											
PDS5A	23244	broad.mit.edu	37	4	39878617	39878617	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:39878617G>A	ENST00000303538.8	-	19	2688	c.2149C>T	c.(2149-2151)Cga>Tga	p.R717*		NM_001100399.1	NP_001093869.1	Q29RF7	PDS5A_HUMAN	PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae)	717					cell division|mitosis|negative regulation of DNA replication	chromatin|nucleus	identical protein binding			breast(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(14)|prostate(3)|skin(1)|urinary_tract(1)	39						ACTCACGATCGTATCTGGGGA	0.383													12	24					0	0	1	0	0	A	39878617	G	A	39878617	4	1	81	1	0	0	0	0	0	1	0	0	11738	1153	40	1	1924	1	PDS5A	4	39878617	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	368349	39878617	151275659	3758	7374											
PDS5A	23244	broad.mit.edu	37	4	39881439	39881439	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:39881439A>C	ENST00000303538.8	-	18	2440	c.1901T>G	c.(1900-1902)tTg>tGg	p.L634W		NM_001100399.1	NP_001093869.1	Q29RF7	PDS5A_HUMAN	PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae)	634					cell division|mitosis|negative regulation of DNA replication	chromatin|nucleus	identical protein binding			breast(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(14)|prostate(3)|skin(1)|urinary_tract(1)	39						CTTATTCATCAATTTCACTAG	0.358													27	39					0	0	1	0	0	C	39881439	A	C	39881439	3	2	81	1	0	0	0	0	1	0	0	0	11738	131	5	5	2176	5	PDS5A	4	39881439	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	2822	39881439	151272837	3759	7375											
PDS5A	23244	broad.mit.edu	37	4	39924325	39924325	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:39924325T>C	ENST00000303538.8	-	6	1110	c.571A>G	c.(571-573)Atg>Gtg	p.M191V	PDS5A_ENST00000503396.1_Missense_Mutation_p.M191V	NM_001100399.1	NP_001093869.1	Q29RF7	PDS5A_HUMAN	PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae)	191					cell division|mitosis|negative regulation of DNA replication	chromatin|nucleus	identical protein binding			breast(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(14)|prostate(3)|skin(1)|urinary_tract(1)	39						ATAGAACTCATCAAATCTAGC	0.333													7	19					0	0	1	0	0	C	39924325	T	C	39924325	3	2	81	1	0	0	0	0	1	0	0	0	11738	1435	50	3	3587	3	PDS5A	4	39924325	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	42886	39924325	151229951	3760	7376											
N4BP2	55728	broad.mit.edu	37	4	40108548	40108548	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:40108548G>A	ENST00000261435.6	+	5	1818	c.1402G>A	c.(1402-1404)Gtc>Atc	p.V468I		NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN	NEDD4 binding protein 2	468						cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding			breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						TCCAAGTGGAGTCATTCTTAG	0.318													18	38					0	0	1	0	0	A	40108548	G	A	40108548	3	1	81	1	0	0	0	0	1	0	0	0	10158	1029	36	2	1412	2	N4BP2	4	40108548	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	184223	40108548	151045728	3761	7377											
N4BP2	55728	broad.mit.edu	37	4	40121734	40121734	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:40121734T>C	ENST00000261435.6	+	9	2419	c.2003T>C	c.(2002-2004)aTg>aCg	p.M668T		NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN	NEDD4 binding protein 2	668						cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding			breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						ATAAGTGATATGAATCCTAGC	0.338													7	85					0	0	1	0	0	C	40121734	T	C	40121734	3	2	81	1	0	0	0	0	1	0	0	0	10158	1464	51	3	2029	3	N4BP2	4	40121734	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	13186	40121734	151032542	3762	7378											
N4BP2	55728	broad.mit.edu	37	4	40133443	40133443	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:40133443A>G	ENST00000261435.6	+	13	4966	c.4550A>G	c.(4549-4551)gAa>gGa	p.E1517G		NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN	NEDD4 binding protein 2	1517						cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding			breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						CTTATGTTTGAAAAAGATTGT	0.343													16	28					0	0	1	0	0	G	40133443	A	G	40133443	3	3	81	1	0	0	0	0	1	0	0	0	10158	246	9	3	4592	3	N4BP2	4	40133443	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	11709	40133443	151020833	3763	7379											
APBB2	323	broad.mit.edu	37	4	40823961	40823961	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:40823961C>T	ENST00000295974.8	-	17	2665	c.2036G>A	c.(2035-2037)cGc>cAc	p.R679H	APBB2_ENST00000508593.1_Missense_Mutation_p.R680H|RP11-632F7.3_ENST00000513127.1_RNA|APBB2_ENST00000513140.1_Missense_Mutation_p.R657H|APBB2_ENST00000506352.1_Missense_Mutation_p.R658H|APBB2_ENST00000502841.1_Missense_Mutation_p.R131H|APBB2_ENST00000543538.1_Missense_Mutation_p.R131H|APBB2_ENST00000504305.1_Missense_Mutation_p.R131H	NM_001166050.1|NM_004307.1	NP_001159522.1|NP_004298.1	Q92870	APBB2_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 2	679	PID 2.				cell cycle arrest|intracellular signal transduction|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|regulation of transcription, DNA-dependent	growth cone|lamellipodium|membrane|nucleus|synapse	beta-amyloid binding|transcription factor binding			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|skin(2)|urinary_tract(1)	34						GCACTCAAAGCGCTGGTTCCC	0.552													22	30					0	0	1	0	0	T	40823961	C	T	40823961	3	4	81	1	0	0	0	0	1	0	0	0	757	768	27	1	248	1	APBB2	4	40823961	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	690518	40823961	150330315	3764	7380											
APBB2	323	broad.mit.edu	37	4	40825774	40825774	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:40825774T>G	ENST00000295974.8	-	16	2445	c.1816A>C	c.(1816-1818)Atg>Ctg	p.M606L	APBB2_ENST00000508593.1_Missense_Mutation_p.M607L|RP11-632F7.3_ENST00000513127.1_RNA|APBB2_ENST00000513140.1_Missense_Mutation_p.M584L|APBB2_ENST00000506352.1_Missense_Mutation_p.M585L|APBB2_ENST00000502841.1_Missense_Mutation_p.M58L|APBB2_ENST00000543538.1_Missense_Mutation_p.M58L|APBB2_ENST00000504305.1_Missense_Mutation_p.M58L	NM_001166050.1|NM_004307.1	NP_001159522.1|NP_004298.1	Q92870	APBB2_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 2	606	PID 2.				cell cycle arrest|intracellular signal transduction|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|regulation of transcription, DNA-dependent	growth cone|lamellipodium|membrane|nucleus|synapse	beta-amyloid binding|transcription factor binding			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|skin(2)|urinary_tract(1)	34						AAAATATCCATTCCTGGGGAC	0.448													14	23					0	0	1	0	0	G	40825774	T	G	40825774	3	3	81	1	0	0	0	0	1	0	0	0	757	1493	52	4	472	4	APBB2	4	40825774	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	1813	40825774	150328502	3765	7381											
APBB2	323	broad.mit.edu	37	4	41015610	41015610	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:41015610C>T	ENST00000295974.8	-	6	1454	c.825G>A	c.(823-825)ccG>ccA	p.P275P	APBB2_ENST00000513140.1_Silent_p.P275P|APBB2_ENST00000506352.1_Silent_p.P275P|APBB2_ENST00000508593.1_Silent_p.P275P	NM_001166050.1|NM_004307.1	NP_001159522.1|NP_004298.1	Q92870	APBB2_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 2	275					cell cycle arrest|intracellular signal transduction|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|regulation of transcription, DNA-dependent	growth cone|lamellipodium|membrane|nucleus|synapse	beta-amyloid binding|transcription factor binding			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|skin(2)|urinary_tract(1)	34						CTGTTTCATCCGGGGAGCTGG	0.512													14	167					0	0	1	0	0	T	41015610	C	T	41015610	2	4	81	1	0	0	0	0	0	0	0	1	757	639	23	1		1	APBB2	4	41015610	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	189836	41015610	150138666	3766	7382											
APBB2	323	broad.mit.edu	37	4	41015670	41015670	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:41015670C>T	ENST00000295974.8	-	6	1394	c.765G>A	c.(763-765)ccG>ccA	p.P255P	APBB2_ENST00000513140.1_Silent_p.P255P|APBB2_ENST00000506352.1_Silent_p.P255P|APBB2_ENST00000508593.1_Silent_p.P255P	NM_001166050.1|NM_004307.1	NP_001159522.1|NP_004298.1	Q92870	APBB2_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 2	255					cell cycle arrest|intracellular signal transduction|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|regulation of transcription, DNA-dependent	growth cone|lamellipodium|membrane|nucleus|synapse	beta-amyloid binding|transcription factor binding			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|skin(2)|urinary_tract(1)	34						CCTCATCGCTCGGTGCCAGGT	0.582													19	280					0	0	1	0	0	T	41015670	C	T	41015670	2	4	81	1	0	0	0	0	0	0	0	1	757	871	31	1		1	APBB2	4	41015670	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	60	41015670	150138606	3767	7383											
DCAF4L1	285429	broad.mit.edu	37	4	41984211	41984211	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:41984211G>A	ENST00000333141.5	+	1	499	c.402G>A	c.(400-402)tcG>tcA	p.S134S		NM_001029955.3	NP_001025126.2	Q3SXM0	DC4L1_HUMAN	DDB1 and CUL4 associated factor 4-like 1	134										breast(1)|endometrium(5)|kidney(6)|large_intestine(11)|lung(12)|prostate(1)|skin(1)	37						GCTGGGCCTCGCTGAACCAGT	0.562													25	66					0	0	1	0	0	A	41984211	G	A	41984211	2	1	81	1	0	0	0	0	0	0	0	1	4295	1074	38	1		1	DCAF4L1	4	41984211	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	968541	41984211	149170065	3768	7384											
BEND4	389206	broad.mit.edu	37	4	42119622	42119622	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:42119622G>A	ENST00000502486.1	-	6	2097	c.1518C>T	c.(1516-1518)aaC>aaT	p.N506N	BEND4_ENST00000504360.1_3'UTR	NM_207406.3	NP_997289.2	Q6ZU67	BEND4_HUMAN	BEN domain containing 4	506										NS(2)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	26						ATGAGCCACCGTTGTGCAGGA	0.532													5	8					0	0	1	0	0	A	42119622	G	A	42119622	2	1	81	1	0	0	0	0	0	0	0	1	1398	1136	40	1		1	BEND4	4	42119622	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	135411	42119622	149034654	3769	7385											
ATP8A1	10396	broad.mit.edu	37	4	42445621	42445621	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:42445621C>T	ENST00000381668.5	-	33	3315	c.3084G>A	c.(3082-3084)ctG>ctA	p.L1028L	ATP8A1_ENST00000264449.10_Silent_p.L1013L	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	1028					ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	TGGCAGGCCACAGAGATGAGT	0.438													9	15					0	0	1	0	0	T	42445621	C	T	42445621	2	4	81	1	0	0	0	0	0	0	0	1	1190	465	17	2		2	ATP8A1	4	42445621	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	325999	42445621	148708655	3770	7386											
GUF1	60558	broad.mit.edu	37	4	44682469	44682469	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:44682469C>T	ENST00000281543.5	+	2	371	c.177C>T	c.(175-177)gaC>gaT	p.D59D	GUF1_ENST00000506793.1_Intron	NM_021927.2	NP_068746.2	Q8N442	GUF1_HUMAN	GUF1 GTPase homolog (S. cerevisiae)	59					translation	mitochondrial inner membrane	GTP binding|GTPase activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	19						AAAAACTTGACATGTCTAGGT	0.338													4	13					0	0	1	0	0	T	44682469	C	T	44682469	2	4	81	1	0	0	0	0	0	0	0	1	6940	477	17	2		2	GUF1	4	44682469	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2236848	44682469	146471807	3771	7387											
GABRG1	2565	broad.mit.edu	37	4	46043152	46043152	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:46043152A>G	ENST00000295452.4	-	9	1418	c.1251T>C	c.(1249-1251)tgT>tgC	p.C417C		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	417					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)		CTTCAAAGCAACAGAAGAAGC	0.418													8	81					0	0	1	0	0	G	46043152	A	G	46043152	2	3	81	1	0	0	0	0	0	0	0	1	6206	41	2	3		3	GABRG1	4	46043152	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	1360683	46043152	145111124	3772	7388											
GABRG1	2565	broad.mit.edu	37	4	46060347	46060347	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:46060347C>A	ENST00000295452.4	-	7	970	c.803G>T	c.(802-804)aGa>aTa	p.R268I		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	268					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)		TCCCATTCTTCTGCTCAGGTC	0.318													20	39					6.44725e-10	7.84582e-10	1	1	0	A	46060347	C	A	46060347	3	1	81	1	0	0	0	0	1	0	0	0	6206	913	32	4	606	4	GABRG1	4	46060347	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	17195	46060347	145093929	3773	7389											
GABRG1	2565	broad.mit.edu	37	4	46067578	46067578	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:46067578delA	ENST00000295452.4	-	4	512	c.345delT	c.(343-345)tttfs	p.F115fs		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	115					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)		AGGTTTGGGCAAAAATTATAT	0.284													21	16	---	---	---	---						-	46067578	A	-	46067578	7	5	81	1	0	1	0	1	0	0	0	0	6206	127	5	0	1076	0	GABRG1	4	46067578	Frame_Shift_Del	DEL	A	TCGA-DU-6392-01A-11D-1705-08	7231	46067578	145086698	3774	7390	33	3									
GABRG1	2565	broad.mit.edu	37	4	46067586	46067586	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:46067586T>A	ENST00000295452.4	-	4	504	c.337A>T	c.(337-339)Ata>Tta	p.I113L		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	113					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)		GCAAAAATTATATCTATTGTA	0.274													14	7					0	0	1	0	0	A	46067586	T	A	46067586	3	1	81	1	0	0	0	0	1	0	0	0	6206	1406	49	4	1084	4	GABRG1	4	46067586	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	8	46067586	145086690	3775	7391	33	3									
GABRG1	2565	broad.mit.edu	37	4	46067588	46067588	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:46067588T>A	ENST00000295452.4	-	4	502	c.335A>T	c.(334-336)gAt>gTt	p.D112V		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	112					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)		AAAAATTATATCTATTGTATA	0.269													13	6					0	0	1	0	0	A	46067588	T	A	46067588	3	1	81	1	0	0	0	0	1	0	0	0	6206	1435	50	4	1086	4	GABRG1	4	46067588	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	2	46067588	145086688	3776	7392	33	3									
COX7B2	170712	broad.mit.edu	37	4	46737055	46737055	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:46737055G>A	ENST00000396533.1	-	4	405	c.155C>T	c.(154-156)gCt>gTt	p.A52V	COX7B2_ENST00000302930.5_Missense_Mutation_p.A52V|COX7B2_ENST00000543208.1_Missense_Mutation_p.A51V|COX7B2_ENST00000355591.3_Missense_Mutation_p.A52V			Q8TF08	CX7B2_HUMAN	cytochrome c oxidase subunit VIIb2	52						integral to membrane|mitochondrial respiratory chain	cytochrome-c oxidase activity			large_intestine(1)|lung(4)	5						CACCCATGTAGCAACACAGAA	0.438													36	57					0	0	1	0	0	A	46737055	G	A	46737055	3	1	81	1	0	0	0	0	1	0	0	0	3806	971	34	2	94	2	COX7B2	4	46737055	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	669467	46737055	144417221	3777	7393											
GABRA4	2557	broad.mit.edu	37	4	46981050	46981050	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:46981050delT	ENST00000264318.3	-	3	1253	c.271delA	c.(271-273)atgfs	p.M91fs		NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 4	91					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	ATACCTACCATTTCAACATCA	0.333													9	43	---	---	---	---						-	46981050	T	-	46981050	7	5	81	1	0	1	0	1	0	0	0	0	6198	1493	52	0	1421	0	GABRA4	4	46981050	Frame_Shift_Del	DEL	T	TCGA-DU-6392-01A-11D-1705-08	243995	46981050	144173226	3778	7394											
GABRA4	2557	broad.mit.edu	37	4	46994913	46994913	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:46994913T>C	ENST00000264318.3	-	2	1119	c.137A>G	c.(136-138)gAa>gGa	p.E46G	GABRA4_ENST00000509316.1_5'UTR	NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 4	46					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	GGTGAAATTTTCTGTGCACAA	0.458													5	57					0	0	1	0	0	C	46994913	T	C	46994913	3	2	81	1	0	0	0	0	1	0	0	0	6198	1783	62	3	1559	3	GABRA4	4	46994913	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	13863	46994913	144159363	3779	7395											
GABRB1	2560	broad.mit.edu	37	4	47427785	47427785	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:47427785C>T	ENST00000295454.3	+	9	1467	c.1175C>T	c.(1174-1176)gCc>gTc	p.A392V	GABRB1_ENST00000538619.1_Missense_Mutation_p.A322V	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 1	392					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44					Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	GACCCCAAGGCCACCATGTAC	0.647													31	28					0	0	1	0	0	T	47427785	C	T	47427785	3	4	81	1	0	0	0	0	1	0	0	0	6201	739	26	2	1209	2	GABRB1	4	47427785	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	432872	47427785	143726491	3780	7396											
GABRB1	2560	broad.mit.edu	37	4	47427823	47427823	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:47427823C>T	ENST00000295454.3	+	9	1505	c.1213C>T	c.(1213-1215)Cgc>Tgc	p.R405C	GABRB1_ENST00000538619.1_Missense_Mutation_p.R335C	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 1	405					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44					Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	CATCCAGTACCGCAAGCCCCT	0.662													5	52					0	0	1	0	0	T	47427823	C	T	47427823	3	4	81	1	0	0	0	0	1	0	0	0	6201	652	23	1	1247	1	GABRB1	4	47427823	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	38	47427823	143726453	3781	7397											
ATP10D	57205	broad.mit.edu	37	4	47517672	47517672	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:47517672C>A	ENST00000273859.3	+	3	739	c.470C>A	c.(469-471)aCt>aAt	p.T157N	ATP10D_ENST00000504445.1_Missense_Mutation_p.T157N	NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	157					ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						AATTTAATAACTAAAGTTTAT	0.338													15	39					2.23348e-06	2.55658e-06	1	1	0	A	47517672	C	A	47517672	3	1	81	1	0	0	0	0	1	0	0	0	1117	565	20	4	476	4	ATP10D	4	47517672	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	89849	47517672	143636604	3782	7398											
ATP10D	57205	broad.mit.edu	37	4	47537530	47537530	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:47537530C>T	ENST00000273859.3	+	6	1050	c.781C>T	c.(781-783)Cat>Tat	p.H261Y	ATP10D_ENST00000504445.1_Missense_Mutation_p.H261Y	NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	261					ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						TTATAGAGAACATTCCAACAA	0.373													23	44					0	0	1	0	0	T	47537530	C	T	47537530	3	4	81	1	0	0	0	0	1	0	0	0	1117	478	17	2	799	2	ATP10D	4	47537530	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	19858	47537530	143616746	3783	7399											
ATP10D	57205	broad.mit.edu	37	4	47548731	47548731	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:47548731C>T	ENST00000273859.3	+	10	1756	c.1487C>T	c.(1486-1488)cCg>cTg	p.P496L	ATP10D_ENST00000504445.1_Missense_Mutation_p.P481L	NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	496					ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						ATGGCAAAACCGAGAGCCCCC	0.483													37	64					0	0	1	0	0	T	47548731	C	T	47548731	3	4	81	1	0	0	0	0	1	0	0	0	1117	652	23	1	1521	1	ATP10D	4	47548731	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	11201	47548731	143605545	3784	7400											
ATP10D	57205	broad.mit.edu	37	4	47548743	47548743	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:47548743G>A	ENST00000273859.3	+	10	1768	c.1499G>A	c.(1498-1500)aGc>aAc	p.S500N	ATP10D_ENST00000504445.1_Missense_Mutation_p.S485N	NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	500					ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						AGAGCCCCCAGCTGCAGGACA	0.483													39	53					0	0	1	0	0	A	47548743	G	A	47548743	3	1	81	1	0	0	0	0	1	0	0	0	1117	971	34	2	1533	2	ATP10D	4	47548743	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	12	47548743	143605533	3785	7401											
ATP10D	57205	broad.mit.edu	37	4	47593308	47593308	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:47593308C>A	ENST00000273859.3	+	23	4460	c.4191C>A	c.(4189-4191)aaC>aaA	p.N1397K		NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	1397					ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						AGCAAGGAAACTTATCTCTGT	0.463													42	136					5.34276e-22	7.0107e-22	1	1	0	A	47593308	C	A	47593308	3	1	81	1	0	0	0	0	1	0	0	0	1117	564	20	4	4277	4	ATP10D	4	47593308	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	44565	47593308	143560968	3786	7402											
CORIN	10699	broad.mit.edu	37	4	47625742	47625742	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:47625742C>A	ENST00000273857.4	-	19	2385	c.2386G>T	c.(2386-2388)Gcc>Tcc	p.A796S	CORIN_ENST00000508498.1_Missense_Mutation_p.A657S|CORIN_ENST00000515827.1_5'UTR|CORIN_ENST00000502252.1_Missense_Mutation_p.A729S|CORIN_ENST00000505909.1_Missense_Mutation_p.A759S	NM_006587.2	NP_006578.2	Q9Y5Q5	CORIN_HUMAN	corin, serine peptidase	796	SRCR.				peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						TTCATTCGGGCAGCAGGGCGG	0.532													4	73					0.150653	0.152522	1	1	0	A	47625742	C	A	47625742	3	1	81	1	0	0	0	0	1	0	0	0	3775	710	25	5	758	5	CORIN	4	47625742	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	32434	47625742	143528534	3787	7403											
CORIN	10699	broad.mit.edu	37	4	47645223	47645223	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:47645223G>A	ENST00000273857.4	-	15	2007	c.2008C>T	c.(2008-2010)Cgt>Tgt	p.R670C	CORIN_ENST00000508498.1_Missense_Mutation_p.R531C|CORIN_ENST00000504584.1_Missense_Mutation_p.R633C|CORIN_ENST00000502252.1_Missense_Mutation_p.R603C|CORIN_ENST00000505909.1_Missense_Mutation_p.R633C	NM_006587.2	NP_006578.2	Q9Y5Q5	CORIN_HUMAN	corin, serine peptidase	670	LDL-receptor class A 7.				peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						CACAGGTCACGTGACACACAC	0.453													6	64					0	0	1	0	0	A	47645223	G	A	47645223	3	1	81	1	0	0	0	0	1	0	0	0	3775	1145	40	1	1152	1	CORIN	4	47645223	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	19481	47645223	143509053	3788	7404											
CORIN	10699	broad.mit.edu	37	4	47663803	47663803	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:47663803C>A	ENST00000273857.4	-	12	1659	c.1660G>T	c.(1660-1662)Gac>Tac	p.D554Y	CORIN_ENST00000508498.1_Missense_Mutation_p.D415Y|CORIN_ENST00000504584.1_Missense_Mutation_p.D517Y|CORIN_ENST00000502252.1_Missense_Mutation_p.D487Y|CORIN_ENST00000505909.1_Missense_Mutation_p.D517Y	NM_006587.2	NP_006578.2	Q9Y5Q5	CORIN_HUMAN	corin, serine peptidase	554	FZ 2.				peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						CAATCTGTGTCTTCAGGCCAC	0.398													4	52					0.00909568	0.00944708	1	1	0	A	47663803	C	A	47663803	3	1	81	1	0	0	0	0	1	0	0	0	3775	913	32	4	1512	4	CORIN	4	47663803	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	18580	47663803	143490473	3789	7405											
NFXL1	152518	broad.mit.edu	37	4	47857181	47857181	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:47857181C>T	ENST00000507489.1	-	20	2493		c.e20-1		NFXL1_ENST00000381538.3_Splice_Site	NM_001278624.1	NP_001265553.1	Q6ZNB6	NFXL1_HUMAN	nuclear transcription factor, X-box binding-like 1							integral to membrane|nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(4)	27						CACAAGGAAGCTAAAATAAAA	0.358													26	47					0	0	1	0	0	T	47857181	C	T	47857181	5	4	81	1	0	0	0	0	0	0	1	0	10435	811	28	2	435	2	NFXL1	4	47857181	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	193378	47857181	143297095	3790	7406											
NFXL1	152518	broad.mit.edu	37	4	47887941	47887941	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:47887941C>T	ENST00000507489.1	-	13	1795	c.1619G>A	c.(1618-1620)gGc>gAc	p.G540D	NFXL1_ENST00000381538.3_Missense_Mutation_p.G540D|NFXL1_ENST00000329043.3_Missense_Mutation_p.G540D	NM_001278624.1	NP_001265553.1	Q6ZNB6	NFXL1_HUMAN	nuclear transcription factor, X-box binding-like 1	540						integral to membrane|nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(4)	27						ACGTTCTCGGCCACAGGGCAC	0.438													67	102					0	0	1	0	0	T	47887941	C	T	47887941	3	4	81	1	0	0	0	0	1	0	0	0	10435	739	26	2	1160	2	NFXL1	4	47887941	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	30760	47887941	143266335	3791	7407											
CNGA1	1259	broad.mit.edu	37	4	47942779	47942779	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:47942779C>T	ENST00000402813.3	-	9	1014		c.e9+1		CNGA1_ENST00000514170.1_Splice_Site|CNGA1_ENST00000544810.1_Splice_Site|CNGA1_ENST00000420489.2_Splice_Site|CNGA1_ENST00000358519.4_Splice_Site			P29973	CNGA1_HUMAN	cyclic nucleotide gated channel alpha 1						response to stimulus|visual perception	integral to plasma membrane	cGMP binding|ion channel activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|urinary_tract(1)	28						AACATATTTACCTGTCCTTGT	0.294													21	33					0	0	1	0	0	T	47942779	C	T	47942779	5	4	81	1	0	0	0	0	0	0	1	0	3619	521	18	2	1415	2	CNGA1	4	47942779	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	54838	47942779	143211497	3792	7408											
TXK	7294	broad.mit.edu	37	4	48088512	48088512	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:48088512C>A	ENST00000264316.4	-	10	1012	c.927G>T	c.(925-927)gaG>gaT	p.E309D		NM_003328.2	NP_003319.2	P42681	TXK_HUMAN	TXK tyrosine kinase	309	Protein kinase.					cytoplasm	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(2)	25						CAATGAAATCCTCTTCAGACA	0.443													10	136					2.27111e-07	2.65192e-07	1	1	0	A	48088512	C	A	48088512	3	1	81	1	0	0	0	0	1	0	0	0	16848	680	24	4	680	4	TXK	4	48088512	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	145733	48088512	143065764	3793	7409											
FRYL	285527	broad.mit.edu	37	4	48502119	48502119	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:48502119G>A	ENST00000537810.1	-	63	9315	c.8711C>T	c.(8710-8712)gCc>gTc	p.A2904V	FRYL_ENST00000503238.1_Missense_Mutation_p.A2904V|FRYL_ENST00000358350.4_Missense_Mutation_p.A2904V|FRYL_ENST00000507873.2_Missense_Mutation_p.A294V|FRYL_ENST00000264319.7_Missense_Mutation_p.A294V			O94915	FRYL_HUMAN	FRY-like	2904					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						AGAATGAATGGCAGTTTCTAT	0.368													5	62					0	0	1	0	0	A	48502119	G	A	48502119	3	1	81	1	0	0	0	0	1	0	0	0	6099	1203	42	2	338	2	FRYL	4	48502119	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	413607	48502119	142652157	3794	7410											
FRYL	285527	broad.mit.edu	37	4	48563643	48563643	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:48563643G>A	ENST00000537810.1	-	33	4311	c.3707C>T	c.(3706-3708)cCg>cTg	p.P1236L	FRYL_ENST00000503238.1_Missense_Mutation_p.P1236L|FRYL_ENST00000507711.1_Missense_Mutation_p.P1236L|FRYL_ENST00000358350.4_Missense_Mutation_p.P1236L|FRYL_ENST00000264319.7_5'UTR			O94915	FRYL_HUMAN	FRY-like	1236					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						AAACATCTTCGGTTCCAGAAT	0.338													28	37					0	0	1	0	0	A	48563643	G	A	48563643	3	1	81	1	0	0	0	0	1	0	0	0	6099	1116	39	1	5462	1	FRYL	4	48563643	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	61524	48563643	142590633	3795	7411											
FRYL	285527	broad.mit.edu	37	4	48621374	48621374	+	Translation_Start_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:48621374G>A	ENST00000264319.7	-	0	932				FRYL_ENST00000503238.1_Missense_Mutation_p.R110C|FRYL_ENST00000537810.1_Missense_Mutation_p.R110C|FRYL_ENST00000507711.1_Missense_Mutation_p.R110C|FRYL_ENST00000358350.4_Missense_Mutation_p.R110C			O94915	FRYL_HUMAN	FRY-like						regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						TCTCTTTCACGTTGCTGTTCA	0.333													21	22					0	0	1	0	0	A	48621374	G	A	48621374	1	1	81	1	0	0	0	0	0	0	0	0	6099	1145	40	1		1	FRYL	4	48621374	Translation_Start_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	57731	48621374	142532902	3796	7412											
OCIAD1	54940	broad.mit.edu	37	4	48834663	48834663	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:48834663C>T	ENST00000425583.2	+	2	297	c.22C>T	c.(22-24)Cga>Tga	p.R8*	OCIAD1_ENST00000506801.1_Intron|OCIAD1_ENST00000512981.1_Intron|OCIAD1_ENST00000381473.3_Nonsense_Mutation_p.R8*|OCIAD1_ENST00000444354.2_Nonsense_Mutation_p.R8*|OCIAD1_ENST00000264312.7_Nonsense_Mutation_p.R8*|OCIAD1_ENST00000509122.1_Nonsense_Mutation_p.R8*|OCIAD1_ENST00000396448.2_Nonsense_Mutation_p.R8*|OCIAD1_ENST00000513391.2_Nonsense_Mutation_p.R8*|OCIAD1_ENST00000508293.1_Nonsense_Mutation_p.R8*	NM_001079842.2	NP_001073311.2	Q9NX40	OCAD1_HUMAN	OCIA domain containing 1	8	OCIA.					endosome	protein binding			breast(2)|large_intestine(2)|lung(2)|prostate(1)|skin(2)	9						GGCTGATTTTCGAGAGCCGAA	0.348													56	91					0	0	1	0	0	T	48834663	C	T	48834663	4	4	81	1	0	0	0	0	0	1	0	0	10865	876	31	1	43	1	OCIAD1	4	48834663	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	213289	48834663	142319613	3797	7413											
CWH43	80157	broad.mit.edu	37	4	49005809	49005809	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:49005809G>A	ENST00000226432.4	+	7	1043	c.860G>A	c.(859-861)gGc>gAc	p.G287D	CWH43_ENST00000513409.1_Missense_Mutation_p.G260D	NM_025087.2	NP_079363.2	Q9H720	PG2IP_HUMAN	cell wall biogenesis 43 C-terminal homolog (S. cerevisiae)	287					GPI anchor biosynthetic process	integral to membrane				cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						GCTGTGTCTGGCTGTGTCTTC	0.512													36	56					0	0	1	0	0	A	49005809	G	A	49005809	3	1	81	1	0	0	0	0	1	0	0	0	4096	1203	42	2	886	2	CWH43	4	49005809	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	171146	49005809	142148467	3798	7414											
DCUN1D4	23142	broad.mit.edu	37	4	52729856	52729856	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:52729856C>T	ENST00000334635.5	+	3	297	c.117C>T	c.(115-117)ggC>ggT	p.G39G	DCUN1D4_ENST00000513800.1_3'UTR|DCUN1D4_ENST00000451288.2_Silent_p.G83G|DCUN1D4_ENST00000381437.4_5'UTR|DCUN1D4_ENST00000381441.3_Silent_p.G39G	NM_001040402.1	NP_001035492.1	Q92564	DCNL4_HUMAN	DCN1, defective in cullin neddylation 1, domain containing 4	39										endometrium(2)|large_intestine(2)|lung(2)|ovary(2)|skin(1)	9			GBM - Glioblastoma multiforme(4;1.93e-11)|LUSC - Lung squamous cell carcinoma(32;0.00654)			AAGACATTGGCCAAGACGATC	0.323													19	35					0	0	1	0	0	T	52729856	C	T	52729856	2	4	81	1	0	0	0	0	0	0	0	1	4339	726	26	2		2	DCUN1D4	4	52729856	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3724047	52729856	138424420	3799	7415											
SGCB	6443	broad.mit.edu	37	4	52895891	52895891	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:52895891C>A	ENST00000381431.5	-	3	604	c.382G>T	c.(382-384)Gga>Tga	p.G128*	SGCB_ENST00000535450.1_Nonsense_Mutation_p.G58*	NM_000232.4	NP_000223.1	Q16585	SGCB_HUMAN	sarcoglycan, beta (43kDa dystrophin-associated glycoprotein)	128	Cys-rich.				cytoskeleton organization|muscle organ development	cytoplasm|cytoskeleton|integral to plasma membrane|sarcoglycan complex|sarcolemma				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(6)|prostate(1)	17			GBM - Glioblastoma multiforme(4;7.63e-12)|LUSC - Lung squamous cell carcinoma(32;0.00204)			CGCCTTCCTCCTACTGTGCTT	0.428													31	40					9.65021e-13	1.21012e-12	1	1	0	A	52895891	C	A	52895891	4	1	81	1	0	0	0	0	0	1	0	0	14254	690	24	4	590	4	SGCB	4	52895891	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	166035	52895891	138258385	3800	7416											
SPATA18	132671	broad.mit.edu	37	4	52927056	52927056	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:52927056C>T	ENST00000295213.4	+	3	676	c.302C>T	c.(301-303)tCt>tTt	p.S101F	SPATA18_ENST00000419395.2_Missense_Mutation_p.S101F|SPATA18_ENST00000506829.1_Intron	NM_145263.2	NP_660306.1	Q8TC71	MIEAP_HUMAN	spermatogenesis associated 18	101					mitochondrial protein catabolic process|mitochondrion degradation by induced vacuole formation|response to DNA damage stimulus	mitochondrial outer membrane	protein binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)			AAGGTCCCCTCTCTGCAGGTA	0.463													14	25					0	0	1	0	0	T	52927056	C	T	52927056	3	4	81	1	0	0	0	0	1	0	0	0	15059	913	32	2	312	2	SPATA18	4	52927056	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	31165	52927056	138227220	3801	7417											
RASL11B	65997	broad.mit.edu	37	4	53731770	53731770	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:53731770C>A	ENST00000248706.3	+	4	763	c.545C>A	c.(544-546)tCt>tAt	p.S182Y	RASL11B_ENST00000505041.1_3'UTR	NM_023940.2	NP_076429.1	Q9BPW5	RSLBB_HUMAN	RAS-like, family 11, member B	182	Small GTPase-like.				small GTPase mediated signal transduction	membrane	GTP binding|GTPase activity			autonomic_ganglia(1)|central_nervous_system(1)|lung(5)|ovary(1)|stomach(1)	9			LUSC - Lung squamous cell carcinoma(32;0.0302)			TATGAAGTGTCTGTCAGTGAA	0.498													9	203					0.00829132	0.00865729	1	1	0	A	53731770	C	A	53731770	3	1	81	1	0	0	0	0	1	0	0	0	13134	913	32	4	559	4	RASL11B	4	53731770	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	804714	53731770	137422506	3802	7418											
SCFD2	152579	broad.mit.edu	37	4	53740162	53740162	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:53740162G>A	ENST00000401642.3	-	9	2162	c.2029C>T	c.(2029-2031)Cga>Tga	p.R677*	SCFD2_ENST00000388940.4_Nonsense_Mutation_p.R632*	NM_152540.3	NP_689753.2	Q8WU76	SCFD2_HUMAN	sec1 family domain containing 2	677					protein transport|vesicle docking involved in exocytosis					breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	30			GBM - Glioblastoma multiforme(3;1.07e-26)|LUSC - Lung squamous cell carcinoma(32;0.0134)			GGATGCAGTCGGTCAGTTGCA	0.493													4	59					0	0	1	0	0	A	53740162	G	A	53740162	4	1	81	1	0	0	0	0	0	1	0	0	13943	1124	39	1	29	1	SCFD2	4	53740162	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	8392	53740162	137414114	3803	7419											
SCFD2	152579	broad.mit.edu	37	4	54011572	54011572	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:54011572T>G	ENST00000401642.3	-	5	1622	c.1489A>C	c.(1489-1491)Aaa>Caa	p.K497Q	SCFD2_ENST00000388940.4_Missense_Mutation_p.K497Q	NM_152540.3	NP_689753.2	Q8WU76	SCFD2_HUMAN	sec1 family domain containing 2	497					protein transport|vesicle docking involved in exocytosis					breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	30			GBM - Glioblastoma multiforme(3;1.07e-26)|LUSC - Lung squamous cell carcinoma(32;0.0134)			TTCTTGACTTTTTCTTCTGCT	0.443													44	58					0	0	1	0	0	G	54011572	T	G	54011572	3	3	81	1	0	0	0	0	1	0	0	0	13943	1850	64	5	585	5	SCFD2	4	54011572	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	271410	54011572	137142704	3804	7420											
LNX1	84708	broad.mit.edu	37	4	54362284	54362284	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:54362284C>T	ENST00000306888.2	-	5	1219	c.968G>A	c.(967-969)cGa>cAa	p.R323Q	LNX1_ENST00000263925.7_Missense_Mutation_p.R419Q|FIP1L1_ENST00000507166.1_Intron	NM_032622.2	NP_116011.2	Q8TBB1	LNX1_HUMAN	ligand of numb-protein X 1, E3 ubiquitin protein ligase	419	PDZ 1.					cytoplasm	zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|endometrium(3)|large_intestine(11)|lung(6)|ovary(3)|urinary_tract(4)	32	all_neural(26;0.153)		GBM - Glioblastoma multiforme(3;8.2e-46)|LUSC - Lung squamous cell carcinoma(32;0.0134)			CTGACCATGTCGATATGCCAC	0.507													36	54					0	0	1	0	0	T	54362284	C	T	54362284	3	4	81	1	0	0	0	0	1	0	0	0	8906	884	31	1	954	1	LNX1	4	54362284	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	350712	54362284	136791992	3805	7421											
LNX1	84708	broad.mit.edu	37	4	54374161	54374161	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:54374161C>T	ENST00000306888.2	-	2	577	c.326G>A	c.(325-327)cGa>cAa	p.R109Q	LNX1-AS1_ENST00000510785.1_RNA|LNX1_ENST00000263925.7_Missense_Mutation_p.R205Q|FIP1L1_ENST00000507166.1_Intron|LNX1-AS1_ENST00000514364.1_RNA|LNX1-AS1_ENST00000511989.1_RNA	NM_032622.2	NP_116011.2	Q8TBB1	LNX1_HUMAN	ligand of numb-protein X 1, E3 ubiquitin protein ligase	205						cytoplasm	zinc ion binding	p.R109Q(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|endometrium(3)|large_intestine(11)|lung(6)|ovary(3)|urinary_tract(4)	32	all_neural(26;0.153)		GBM - Glioblastoma multiforme(3;8.2e-46)|LUSC - Lung squamous cell carcinoma(32;0.0134)			ACCCCTAGTTCGGTTGCTCCG	0.552													9	19					0	0	1	0	0	T	54374161	C	T	54374161	3	4	81	1	0	0	0	0	1	0	0	0	8906	884	31	1	1608	1	LNX1	4	54374161	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	11877	54374161	136780115	3806	7422											
PDGFRA	5156	broad.mit.edu	37	4	55156518	55156518	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:55156518C>T	ENST00000257290.5	+	22	3250	c.2919C>T	c.(2917-2919)gaC>gaT	p.D973D	FIP1L1_ENST00000507166.1_Silent_p.D733D	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	973					cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	TGAAGAGTGACCATCCTGCTG	0.418			"Mis, O, T"	FIP1L1	"GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			19	49					0	0	1	0	0	T	55156518	C	T	55156518	2	4	81	1	0	0	0	0	0	0	0	1	11708	506	18	2		2	PDGFRA	4	55156518	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	782357	55156518	135997758	3807	7423											
PDGFRA	5156	broad.mit.edu	37	4	55161339	55161339	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:55161339C>T	ENST00000257290.5	+	23	3501	c.3170C>T	c.(3169-3171)tCc>tTc	p.S1057F	FIP1L1_ENST00000507166.1_Missense_Mutation_p.S817F	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	1057	Ser-rich.				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	TCCAGCAGTTCCACCTTCATC	0.498			"Mis, O, T"	FIP1L1	"GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			31	47					0	0	1	0	0	T	55161339	C	T	55161339	3	4	81	1	0	0	0	0	1	0	0	0	11708	855	30	2	3256	2	PDGFRA	4	55161339	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	4821	55161339	135992937	3808	7424											
PDGFRA	5156	broad.mit.edu	37	4	55161379	55161379	+	Silent	SNP	C	C	T	rs149498489		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:55161379C>T	ENST00000257290.5	+	23	3541	c.3210C>T	c.(3208-3210)atC>atT	p.I1070I	FIP1L1_ENST00000507166.1_Silent_p.I830I	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	1070	Ser-rich.				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity	p.I1070I(1)		NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	TTGAAGACATCGACATGATGG	0.547			"Mis, O, T"	FIP1L1	"GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			29	56					0	0	1	0	0	T	55161379	C	T	55161379	2	4	81	1	0	0	0	0	0	0	0	1	11708	874	31	1		1	PDGFRA	4	55161379	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	40	55161379	135992897	3809	7425											
KIT	3815	broad.mit.edu	37	4	55593703	55593703	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:55593703G>A	ENST00000288135.5	+	11	1866	c.1769G>A	c.(1768-1770)aGt>aAt	p.S590N		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	590	Protein kinase.				male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular space|integral to membrane	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity	p.S590N(3)		NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	AACAGGCTGAGTTTTGGTCAG	0.413		1	"Mis, O"		"GIST, AML, TGCT, mastocytosis, mucosal melanoma"	"GIST, epithelioma"	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors				28	40					0	0	1	0	0	A	55593703	G	A	55593703	3	1	81	1	0	0	0	0	1	0	0	0	8372	1029	36	2	1811	2	KIT	4	55593703	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	432324	55593703	135560573	3810	7426											
KDR	3791	broad.mit.edu	37	4	55968162	55968162	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:55968162G>A	ENST00000263923.4	-	15	2463	c.2168C>T	c.(2167-2169)aCt>aTt	p.T723I		NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	723	Ig-like C2-type 7.				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	TCTGCGGATAGTGAGGTTCCG	0.448			Mis		"NSCLC, angiosarcoma"					TSP Lung(20;0.16)			31	61					0	0	1	0	0	A	55968162	G	A	55968162	3	1	81	1	0	0	0	0	1	0	0	0	8182	1029	36	2	1966	2	KDR	4	55968162	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	374459	55968162	135186114	3811	7427											
KDR	3791	broad.mit.edu	37	4	55976632	55976632	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:55976632A>G	ENST00000263923.4	-	9	1488	c.1193T>C	c.(1192-1194)gTc>gCc	p.V398A		NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	398	Ig-like C2-type 4.				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity	p.V398A(1)		NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	GGTAAGGATGACAGTGTAATT	0.418			Mis		"NSCLC, angiosarcoma"					TSP Lung(20;0.16)			30	53					0	0	1	0	0	G	55976632	A	G	55976632	3	3	81	1	0	0	0	0	1	0	0	0	8182	275	10	3	2965	3	KDR	4	55976632	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	8470	55976632	135177644	3812	7428											
TMEM165	55858	broad.mit.edu	37	4	56290771	56290771	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:56290771G>T	ENST00000381334.5	+	5	1092	c.859G>T	c.(859-861)Gga>Tga	p.G287*	TMEM165_ENST00000542052.1_Nonsense_Mutation_p.G224*|TMEM165_ENST00000506198.1_Nonsense_Mutation_p.G92*|TMEM165_ENST00000514904.1_3'UTR	NM_018475.4	NP_060945.2	Q9HC07	TM165_HUMAN	transmembrane protein 165	287						integral to membrane				endometrium(1)|kidney(1)|large_intestine(2)	4	Lung NSC(11;0.00545)|Glioma(25;0.08)|all_neural(26;0.101)|all_epithelial(27;0.135)		LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0103)			GGCAGTAATTGGAGGAAGAAT	0.443													4	44					0.00024832	0.000269806	1	1	0	T	56290771	G	T	56290771	4	4	81	1	0	0	0	0	0	1	0	0	16140	1349	47	5	877	5	TMEM165	4	56290771	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	314139	56290771	134863505	3813	7429											
PDCL2	132954	broad.mit.edu	37	4	56428578	56428578	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:56428578C>T	ENST00000295645.4	-	5	666	c.564G>A	c.(562-564)aaG>aaA	p.K188K		NM_152401.2	NP_689614.2	Q8N4E4	PDCL2_HUMAN	phosducin-like 2	188										endometrium(1)|kidney(1)|lung(4)|ovary(1)	7	Lung NSC(11;0.00256)|Glioma(25;0.08)|all_epithelial(27;0.0863)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(4;1.69e-07)|Lung(4;1.03e-06)|Epithelial(7;0.00669)			TACCTTCCAGCTTGAGATTTA	0.323													14	27					0	0	1	0	0	T	56428578	C	T	56428578	2	4	81	1	0	0	0	0	0	0	0	1	11674	796	28	2		2	PDCL2	4	56428578	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	137807	56428578	134725698	3814	7430											
EXOC1	55763	broad.mit.edu	37	4	56759926	56759926	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:56759926A>T	ENST00000381295.2	+	15	2281	c.1933A>T	c.(1933-1935)Agg>Tgg	p.R645W	EXOC1_ENST00000346134.7_Missense_Mutation_p.R645W|EXOC1_ENST00000349598.6_Missense_Mutation_p.R630W	NM_001024924.1	NP_001020095.1	Q9NV70	EXOC1_HUMAN	exocyst complex component 1	645					exocytosis|protein transport	exocyst	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	35	Glioma(25;0.08)|all_neural(26;0.101)					GACTGTCAAAAGGAACTTTGA	0.333													8	51					0	0	1	0	0	T	56759926	A	T	56759926	3	4	81	1	0	0	0	0	1	0	0	0	5328	63	3	5	1987	5	EXOC1	4	56759926	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	331348	56759926	134394350	3815	7431											
EXOC1	55763	broad.mit.edu	37	4	56770609	56770609	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:56770609T>C	ENST00000381295.2	+	19	2981	c.2633T>C	c.(2632-2634)tTc>tCc	p.F878S	EXOC1_ENST00000346134.7_Missense_Mutation_p.F878S|EXOC1_ENST00000349598.6_Missense_Mutation_p.F863S	NM_001024924.1	NP_001020095.1	Q9NV70	EXOC1_HUMAN	exocyst complex component 1	878					exocytosis|protein transport	exocyst	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	35	Glioma(25;0.08)|all_neural(26;0.101)					ACAATGGAATTCACTATTCAG	0.398													39	45					0	0	1	0	0	C	56770609	T	C	56770609	3	2	81	1	0	0	0	0	1	0	0	0	5328	1783	62	3	2703	3	EXOC1	4	56770609	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	10683	56770609	134383667	3816	7432											
CEP135	9662	broad.mit.edu	37	4	56858237	56858237	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:56858237G>T	ENST00000257287.4	+	15	2119	c.1995G>T	c.(1993-1995)gaG>gaT	p.E665D		NM_025009.4	NP_079285.2	Q66GS9	CP135_HUMAN	centrosomal protein 135kDa	665					centriole replication|centriole-centriole cohesion|G2/M transition of mitotic cell cycle	centriole|cytosol	protein C-terminus binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(26)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	50	Glioma(25;0.08)|all_neural(26;0.101)					AGAAAACAGAGGTGAACTCAC	0.328													15	26					7.07596e-05	7.81712e-05	1	1	0	T	56858237	G	T	56858237	3	4	81	1	0	0	0	0	1	0	0	0	3269	991	35	4	2049	4	CEP135	4	56858237	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	87628	56858237	134296039	3817	7433											
CEP135	9662	broad.mit.edu	37	4	56877583	56877583	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:56877583C>A	ENST00000257287.4	+	20	2635	c.2511C>A	c.(2509-2511)atC>atA	p.I837I		NM_025009.4	NP_079285.2	Q66GS9	CP135_HUMAN	centrosomal protein 135kDa	837					centriole replication|centriole-centriole cohesion|G2/M transition of mitotic cell cycle	centriole|cytosol	protein C-terminus binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(26)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	50	Glioma(25;0.08)|all_neural(26;0.101)					TGTAGGAAATCTCATTGGAAT	0.323													17	21					3.51602e-12	4.38715e-12	1	1	0	A	56877583	C	A	56877583	2	1	81	1	0	0	0	0	0	0	0	1	3269	903	32	4		4	CEP135	4	56877583	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	19346	56877583	134276693	3818	7434											
CEP135	9662	broad.mit.edu	37	4	56877605	56877605	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:56877605G>T	ENST00000257287.4	+	20	2657	c.2533G>T	c.(2533-2535)Gtg>Ttg	p.V845L		NM_025009.4	NP_079285.2	Q66GS9	CP135_HUMAN	centrosomal protein 135kDa	845					centriole replication|centriole-centriole cohesion|G2/M transition of mitotic cell cycle	centriole|cytosol	protein C-terminus binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(26)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	50	Glioma(25;0.08)|all_neural(26;0.101)					GGAAGCAGCAGTGCAAGAAAA	0.308													13	33					0.0202918	0.0209342	1	1	0	T	56877605	G	T	56877605	3	4	81	1	0	0	0	0	1	0	0	0	3269	1029	36	4	2607	4	CEP135	4	56877605	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	22	56877605	134276671	3819	7435											
KIAA1211	57482	broad.mit.edu	37	4	57181518	57181518	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:57181518C>T	ENST00000504228.1	+	6	1955	c.1850C>T	c.(1849-1851)gCg>gTg	p.A617V	KIAA1211_ENST00000541073.1_Missense_Mutation_p.A610V|KIAA1211_ENST00000264229.6_Missense_Mutation_p.A617V			Q6ZU35	K1211_HUMAN	KIAA1211	617										endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					AAGGACACCGCGTGCAAGTCC	0.701													10	13					0	0	1	0	0	T	57181518	C	T	57181518	3	4	81	1	0	0	0	0	1	0	0	0	8257	768	27	1	1868	1	KIAA1211	4	57181518	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	303913	57181518	133972758	3820	7436											
KIAA1211	57482	broad.mit.edu	37	4	57181557	57181557	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:57181557C>T	ENST00000504228.1	+	6	1994	c.1889C>T	c.(1888-1890)gCg>gTg	p.A630V	KIAA1211_ENST00000541073.1_Missense_Mutation_p.A623V|KIAA1211_ENST00000264229.6_Missense_Mutation_p.A630V			Q6ZU35	K1211_HUMAN	KIAA1211	630										endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					AAGAAGCACGCGGAAGCCCCA	0.706													6	15					0	0	1	0	0	T	57181557	C	T	57181557	3	4	81	1	0	0	0	0	1	0	0	0	8257	768	27	1	1907	1	KIAA1211	4	57181557	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	39	57181557	133972719	3821	7437											
KIAA1211	57482	broad.mit.edu	37	4	57182325	57182325	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:57182325C>T	ENST00000504228.1	+	6	2762	c.2657C>T	c.(2656-2658)gCg>gTg	p.A886V	KIAA1211_ENST00000541073.1_Missense_Mutation_p.A879V|KIAA1211_ENST00000264229.6_Missense_Mutation_p.A886V			Q6ZU35	K1211_HUMAN	KIAA1211	886										endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					CCGCCTGCAGCGGGGAGCGCT	0.617													10	13					0	0	1	0	0	T	57182325	C	T	57182325	3	4	81	1	0	0	0	0	1	0	0	0	8257	768	27	1	2675	1	KIAA1211	4	57182325	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	768	57182325	133971951	3822	7438											
KIAA1211	57482	broad.mit.edu	37	4	57182683	57182683	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:57182683G>T	ENST00000504228.1	+	6	3120	c.3015G>T	c.(3013-3015)aaG>aaT	p.K1005N	KIAA1211_ENST00000541073.1_Missense_Mutation_p.K998N|KIAA1211_ENST00000264229.6_Missense_Mutation_p.K1005N			Q6ZU35	K1211_HUMAN	KIAA1211	1005	Pro-rich.									endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					AGCCGTCCAAGGAGGACCAGG	0.652													3	16					6.4e-05	7.07494e-05	1	1	0	T	57182683	G	T	57182683	3	4	81	1	0	0	0	0	1	0	0	0	8257	991	35	4	3033	4	KIAA1211	4	57182683	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	358	57182683	133971593	3823	7439											
AASDH	132949	broad.mit.edu	37	4	57215453	57215453	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:57215453T>C	ENST00000205214.6	-	11	2644	c.2464A>G	c.(2464-2466)Aag>Gag	p.K822E	AASDH_ENST00000451613.1_Missense_Mutation_p.K822E|AASDH_ENST00000502617.1_Missense_Mutation_p.K822E|AASDH_ENST00000434343.2_Missense_Mutation_p.K337E|AASDH_ENST00000602986.1_Missense_Mutation_p.K669E|AASDH_ENST00000513376.1_Missense_Mutation_p.K722E	NM_181806.2	NP_861522.2	Q4L235	ACSF4_HUMAN	aminoadipate-semialdehyde dehydrogenase	822					fatty acid metabolic process		acid-thiol ligase activity|acyl carrier activity|ATP binding|cofactor binding			endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	40	Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.0017)				TTTCCACACTTAGATACACAT	0.358													9	92					0	0	1	0	0	C	57215453	T	C	57215453	3	2	81	1	0	0	0	0	1	0	0	0	22	1763	61	3	852	3	AASDH	4	57215453	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	32770	57215453	133938823	3824	7440											
AASDH	132949	broad.mit.edu	37	4	57220284	57220284	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:57220284C>A	ENST00000205214.6	-	8	1484	c.1304G>T	c.(1303-1305)gGa>gTa	p.G435V	AASDH_ENST00000451613.1_Missense_Mutation_p.G435V|AASDH_ENST00000502617.1_Missense_Mutation_p.G435V|AASDH_ENST00000434343.2_Intron|AASDH_ENST00000602986.1_Missense_Mutation_p.G282V|AASDH_ENST00000513376.1_Missense_Mutation_p.G335V	NM_181806.2	NP_861522.2	Q4L235	ACSF4_HUMAN	aminoadipate-semialdehyde dehydrogenase	435					fatty acid metabolic process		acid-thiol ligase activity|acyl carrier activity|ATP binding|cofactor binding			endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	40	Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.0017)				AAAAATCTCTCCATCTTTCAC	0.403													20	38					3.51602e-12	4.38715e-12	1	1	0	A	57220284	C	A	57220284	3	1	81	1	0	0	0	0	1	0	0	0	22	855	30	5	2024	5	AASDH	4	57220284	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	4831	57220284	133933992	3825	7441											
PPAT	5471	broad.mit.edu	37	4	57261676	57261676	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:57261676C>T	ENST00000264220.2	-	11	1533	c.1396G>A	c.(1396-1398)Gtt>Att	p.V466I		NM_002703.4	NP_002694.3	Q06203	PUR1_HUMAN	phosphoribosyl pyrophosphate amidotransferase	466					glutamine metabolic process|nucleoside metabolic process|purine base biosynthetic process|purine ribonucleoside monophosphate biosynthetic process	cytosol	4 iron, 4 sulfur cluster binding|amidophosphoribosyltransferase activity|metal ion binding			cervix(1)|endometrium(2)|large_intestine(6)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	20	Glioma(25;0.08)|all_neural(26;0.101)				L-Glutamine(DB00130)|Thioguanine(DB00352)	ACAGATGAAACCAGTCCTTCT	0.333													10	13					0	0	1	0	0	T	57261676	C	T	57261676	3	4	81	1	0	0	0	0	1	0	0	0	12347	507	18	2	161	2	PPAT	4	57261676	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	41392	57261676	133892600	3826	7442											
PPAT	5471	broad.mit.edu	37	4	57267048	57267048	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:57267048A>C	ENST00000264220.2	-	8	1053	c.916T>G	c.(916-918)Tgt>Ggt	p.C306G		NM_002703.4	NP_002694.3	Q06203	PUR1_HUMAN	phosphoribosyl pyrophosphate amidotransferase	306					glutamine metabolic process|nucleoside metabolic process|purine base biosynthetic process|purine ribonucleoside monophosphate biosynthetic process	cytosol	4 iron, 4 sulfur cluster binding|amidophosphoribosyltransferase activity|metal ion binding			cervix(1)|endometrium(2)|large_intestine(6)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	20	Glioma(25;0.08)|all_neural(26;0.101)				L-Glutamine(DB00130)|Thioguanine(DB00352)	TGCTGGCCACAACGGTATCTT	0.423													9	85					0	0	1	0	0	C	57267048	A	C	57267048	3	2	81	1	0	0	0	0	1	0	0	0	12347	130	5	5	653	5	PPAT	4	57267048	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	5372	57267048	133887228	3827	7443											
PAICS	10606	broad.mit.edu	37	4	57325593	57325593	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:57325593G>T	ENST00000514888.1	+	10	1406	c.891G>T	c.(889-891)caG>caT	p.Q297H	PAICS_ENST00000264221.2_Missense_Mutation_p.Q389H|PAICS_ENST00000512576.1_Missense_Mutation_p.Q389H|PAICS_ENST00000399688.3_Missense_Mutation_p.Q396H			P22234	PUR6_HUMAN	phosphoribosylaminoimidazole carboxylase, phosphoribosylaminoimidazole succinocarboxamide synthetase	389	AIR carboxylase.				'de novo' IMP biosynthetic process|purine base biosynthetic process	cytosol	ATP binding|identical protein binding|phosphoribosylaminoimidazole carboxylase activity|phosphoribosylaminoimidazolesuccinocarboxamide synthase activity			endometrium(1)|kidney(2)|large_intestine(1)|urinary_tract(1)	5	Glioma(25;0.08)|all_neural(26;0.101)				L-Aspartic Acid(DB00128)	TTGCTGCTCAGATATTTGGGT	0.413													6	30					0.00116845	0.00124301	1	1	0	T	57325593	G	T	57325593	3	4	81	1	0	0	0	0	1	0	0	0	11442	933	33	4	1226	4	PAICS	4	57325593	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	58545	57325593	133828683	3828	7444											
SRP72	6731	broad.mit.edu	37	4	57340537	57340537	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:57340537A>G	ENST00000342756.5	+	5	1311	c.590A>G	c.(589-591)aAa>aGa	p.K197R	SRP72_ENST00000504757.1_Missense_Mutation_p.K197R|SRP72_ENST00000510663.1_Missense_Mutation_p.K197R	NM_006947.3	NP_008878.3	O76094	SRP72_HUMAN	signal recognition particle 72kDa	197					response to drug|SRP-dependent cotranslational protein targeting to membrane	cytosol|nucleolus|plasma membrane|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding|signal recognition particle binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(7)|ovary(2)	22	Glioma(25;0.08)|all_neural(26;0.101)					CAGGCCATGAAAATCCTACAA	0.428													30	46					0	0	1	0	0	G	57340537	A	G	57340537	3	3	81	1	0	0	0	0	1	0	0	0	15213	14	1	3	608	3	SRP72	4	57340537	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	14944	57340537	133813739	3829	7445											
SRP72	6731	broad.mit.edu	37	4	57344544	57344544	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:57344544G>T	ENST00000342756.5	+	7	1363		c.e7-1		SRP72_ENST00000510663.1_Intron	NM_006947.3	NP_008878.3	O76094	SRP72_HUMAN	signal recognition particle 72kDa						response to drug|SRP-dependent cotranslational protein targeting to membrane	cytosol|nucleolus|plasma membrane|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding|signal recognition particle binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(7)|ovary(2)	22	Glioma(25;0.08)|all_neural(26;0.101)					CTTTCTCTTAGGATGGGACTG	0.413													6	57					0.0215528	0.0221217	1	1	0	T	57344544	G	T	57344544	5	4	81	1	0	0	0	0	0	0	1	0	15213	1014	35	4	668	4	SRP72	4	57344544	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	4007	57344544	133809732	3830	7446											
REST	5978	broad.mit.edu	37	4	57797637	57797637	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:57797637T>G	ENST00000309042.7	+	4	2927	c.2613T>G	c.(2611-2613)aaT>aaG	p.N871K		NM_001193508.1|NM_005612.4	NP_001180437.1|NP_005603.3	Q13127	REST_HUMAN	RE1-silencing transcription factor	871					cardiac muscle cell myoblast differentiation|cellular response to drug|cellular response to electrical stimulus|cellular response to glucocorticoid stimulus|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of aldosterone biosynthetic process|negative regulation of calcium ion-dependent exocytosis|negative regulation of cell proliferation|negative regulation of cortisol biosynthetic process|negative regulation of dense core granule biogenesis|negative regulation of insulin secretion|negative regulation of mesenchymal stem cell differentiation|negative regulation of neurogenesis|negative regulation of neuron differentiation|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of transcription, DNA-dependent	cytoplasm|transcriptional repressor complex	calcium channel activity|chromatin binding|core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|outward rectifier potassium channel activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|zinc ion binding			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	50	Glioma(25;0.08)|all_neural(26;0.181)					CAAAGGAAAATTTAAGAGAAG	0.438													62	90					0	0	1	0	0	G	57797637	T	G	57797637	3	3	81	1	0	0	0	0	1	0	0	0	13286	1490	52	4	2623	4	REST	4	57797637	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	453093	57797637	133356639	3831	7447											
REST	5978	broad.mit.edu	37	4	57797968	57797968	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:57797968C>T	ENST00000309042.7	+	4	3258	c.2944C>T	c.(2944-2946)Cgt>Tgt	p.R982C		NM_001193508.1|NM_005612.4	NP_001180437.1|NP_005603.3	Q13127	REST_HUMAN	RE1-silencing transcription factor	982					cardiac muscle cell myoblast differentiation|cellular response to drug|cellular response to electrical stimulus|cellular response to glucocorticoid stimulus|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of aldosterone biosynthetic process|negative regulation of calcium ion-dependent exocytosis|negative regulation of cell proliferation|negative regulation of cortisol biosynthetic process|negative regulation of dense core granule biogenesis|negative regulation of insulin secretion|negative regulation of mesenchymal stem cell differentiation|negative regulation of neurogenesis|negative regulation of neuron differentiation|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of transcription, DNA-dependent	cytoplasm|transcriptional repressor complex	calcium channel activity|chromatin binding|core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|outward rectifier potassium channel activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|zinc ion binding			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	50	Glioma(25;0.08)|all_neural(26;0.181)					AGTAGAAGAACGTGAAGCAGT	0.448													15	23					0	0	1	0	0	T	57797968	C	T	57797968	3	4	81	1	0	0	0	0	1	0	0	0	13286	536	19	1	2954	1	REST	4	57797968	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	331	57797968	133356308	3832	7448											
POLR2B	5431	broad.mit.edu	37	4	57887151	57887151	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:57887151G>A	ENST00000381227.1	+	18	2823	c.2410G>A	c.(2410-2412)Ggc>Agc	p.G804S	POLR2B_ENST00000314595.5_Missense_Mutation_p.G804S|POLR2B_ENST00000431623.2_Missense_Mutation_p.G729S|POLR2B_ENST00000441246.2_Missense_Mutation_p.G797S			P30876	RPB2_HUMAN	polymerase (RNA) II (DNA directed) polypeptide B, 140kDa	804					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding	p.G804S(1)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1)	52	Glioma(25;0.08)|all_neural(26;0.181)					TGTAGACCGCGGCTTCTTCAG	0.348													26	54					0	0	1	0	0	A	57887151	G	A	57887151	3	1	81	1	0	0	0	0	1	0	0	0	12263	1116	39	1	2476	1	POLR2B	4	57887151	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	89183	57887151	133267125	3833	7449											
LPHN3	23284	broad.mit.edu	37	4	62758588	62758588	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:62758588C>T	ENST00000512091.2	+	9	2238	c.1491C>T	c.(1489-1491)agC>agT	p.S497S	LPHN3_ENST00000506720.1_Silent_p.S565S|LPHN3_ENST00000507625.1_Silent_p.S565S|LPHN3_ENST00000508693.1_Silent_p.S565S|LPHN3_ENST00000514157.1_Silent_p.S497S|LPHN3_ENST00000506746.1_Silent_p.S565S|LPHN3_ENST00000504896.1_Silent_p.S497S|LPHN3_ENST00000514591.1_Silent_p.S497S|LPHN3_ENST00000514996.1_Silent_p.S497S|LPHN3_ENST00000511324.1_Silent_p.S565S|LPHN3_ENST00000507164.1_Silent_p.S565S|LPHN3_ENST00000545650.1_Silent_p.S497S|LPHN3_ENST00000508946.1_Silent_p.S497S|LPHN3_ENST00000506700.1_Silent_p.S497S|LPHN3_ENST00000509896.1_Silent_p.S565S			Q9HAR2	LPHN3_HUMAN	latrophilin 3						neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						TCGAAGAGAGCTGTGAGGCTG	0.517													11	19					0	0	1	0	0	T	62758588	C	T	62758588	2	4	81	1	0	0	0	0	0	0	0	1	8962	796	28	2		2	LPHN3	4	62758588	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	4871437	62758588	128395688	3834	7450											
LPHN3	23284	broad.mit.edu	37	4	62845404	62845404	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:62845404C>T	ENST00000512091.2	+	17	3472	c.2725C>T	c.(2725-2727)Cgt>Tgt	p.R909C	LPHN3_ENST00000506720.1_Missense_Mutation_p.R977C|LPHN3_ENST00000507625.1_Missense_Mutation_p.R977C|LPHN3_ENST00000508693.1_Missense_Mutation_p.R977C|LPHN3_ENST00000514157.1_Missense_Mutation_p.R909C|LPHN3_ENST00000506746.1_Missense_Mutation_p.R977C|LPHN3_ENST00000504896.1_Missense_Mutation_p.R909C|LPHN3_ENST00000514591.1_Missense_Mutation_p.R909C|LPHN3_ENST00000514996.1_Missense_Mutation_p.R909C|LPHN3_ENST00000511324.1_Missense_Mutation_p.R977C|LPHN3_ENST00000507164.1_Missense_Mutation_p.R977C|LPHN3_ENST00000545650.1_Missense_Mutation_p.R909C|LPHN3_ENST00000508946.1_Missense_Mutation_p.R909C|LPHN3_ENST00000506700.1_Missense_Mutation_p.R909C|LPHN3_ENST00000509896.1_Missense_Mutation_p.R977C			Q9HAR2	LPHN3_HUMAN	latrophilin 3						neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						CCAGAGTGACCGTAACACCAT	0.483													66	125					0	0	1	0	0	T	62845404	C	T	62845404	3	4	81	1	0	0	0	0	1	0	0	0	8962	652	23	1	2783	1	LPHN3	4	62845404	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	86816	62845404	128308872	3835	7451											
EPHA5	2044	broad.mit.edu	37	4	66201670	66201670	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:66201670C>T	ENST00000273854.3	-	16	3432	c.2832G>A	c.(2830-2832)acG>acA	p.T944T	EPHA5_ENST00000511294.1_Silent_p.T945T|EPHA5_ENST00000354839.4_Silent_p.T922T|EPHA5_ENST00000432638.2_Silent_p.T781T	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	944					cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						CATTAACCAGCGTCTTCAGAC	0.413										TSP Lung(17;0.13)			20	49					0	0	1	0	0	T	66201670	C	T	66201670	2	4	81	1	0	0	0	0	0	0	0	1	5198	755	27	1		1	EPHA5	4	66201670	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3356266	66201670	124952606	3836	7452											
STAP1	26228	broad.mit.edu	37	4	68436816	68436816	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:68436816C>T	ENST00000265404.2	+	2	217	c.135C>T	c.(133-135)taC>taT	p.Y45Y	STAP1_ENST00000396225.1_Silent_p.Y45Y	NM_012108.2	NP_036240.1	Q9ULZ2	STAP1_HUMAN	signal transducing adaptor family member 1	45	PH.				cellular membrane fusion|intracellular protein transport	cytoplasm				NS(1)|large_intestine(1)|liver(1)|lung(7)|skin(1)|urinary_tract(1)	12						ATGAGCATTACTGGACAGAGT	0.294													7	215					0	0	1	0	0	T	68436816	C	T	68436816	2	4	81	1	0	0	0	0	0	0	0	1	15308	576	20	2		2	STAP1	4	68436816	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2235146	68436816	122717460	3837	7453											
UBA6	55236	broad.mit.edu	37	4	68543398	68543398	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:68543398G>A	ENST00000322244.5	-	6	455	c.396C>T	c.(394-396)taC>taT	p.Y132Y	UBA6_ENST00000420827.2_Silent_p.Y132Y	NM_018227.5	NP_060697.4	A0AVT1	UBA6_HUMAN	ubiquitin-like modifier activating enzyme 6						protein ubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm	ATP binding|FAT10 activating enzyme activity|ligase activity|protein binding	p.Y132*(1)		central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(6)|liver(1)|lung(23)|skin(2)|upper_aerodigestive_tract(2)	44						TGACATGAACGTATGGATTTA	0.294													35	43					0	0	1	0	0	A	68543398	G	A	68543398	2	1	81	1	0	0	0	0	0	0	0	1	16893	1140	40	1		1	UBA6	4	68543398	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	106582	68543398	122610878	3838	7454											
GNRHR	2798	broad.mit.edu	37	4	68619905	68619905	+	Missense_Mutation	SNP	G	G	A	rs150422225		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:68619905G>A	ENST00000226413.4	-	1	173	c.149C>T	c.(148-150)gCg>gTg	p.A50V	UBA6-AS1_ENST00000502758.1_RNA|UBA6-AS1_ENST00000500538.2_RNA|GNRHR_ENST00000420975.2_Missense_Mutation_p.A50V	NM_000406.2	NP_000397.1	P30968	GNRHR_HUMAN	gonadotropin-releasing hormone receptor	50					multicellular organismal development	integral to plasma membrane	gonadotropin-releasing hormone receptor activity			endometrium(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	13					Abarelix(DB00106)|Cetrorelix(DB00050)|Danazol(DB01406)|Gonadorelin(DB00644)|Leuprolide(DB00007)|Nafarelin(DB00666)	ATTAAAGGTCGCAGAGAGCAG	0.443													33	51					0	0	1	0	0	A	68619905	G	A	68619905	3	1	81	1	0	0	0	0	1	0	0	0	6591	1087	38	1	849	1	GNRHR	4	68619905	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	76507	68619905	122534371	3839	7455											
UGT2B15	7366	broad.mit.edu	37	4	69535723	69535723	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:69535723T>C	ENST00000338206.5	-	1	623	c.614A>G	c.(613-615)cAa>cGa	p.Q205R		NM_001076.3	NP_001067.2	P54855	UDB15_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B15	205					steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity										GAAAATCATTTGATCACTTAA	0.343													33	127					0	0	1	0	0	C	69535723	T	C	69535723	3	2	81	1	0	0	0	0	1	0	0	0	17018	1812	63	3	2619	3	UGT2B15	4	69535723	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	915818	69535723	121618553	3840	7456											
UGT2B10	7365	broad.mit.edu	37	4	69682430	69682430	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:69682430G>T	ENST00000265403.7	+	1	720	c.693G>T	c.(691-693)tgG>tgT	p.W231C	UGT2B10_ENST00000458688.2_Intron	NM_001075.4	NP_001066.1	P36537	UDB10_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B10	231					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						TGAAGAAGTGGGATCAGTTTT	0.303													13	28					7.93312e-07	9.15943e-07	1	1	0	T	69682430	G	T	69682430	3	4	81	1	0	0	0	0	1	0	0	0	17016	1241	43	5	695	5	UGT2B10	4	69682430	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	146707	69682430	121471846	3841	7457											
UGT2A3	79799	broad.mit.edu	37	4	69795536	69795536	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:69795536C>T	ENST00000251566.4	-	6	1609	c.1579G>A	c.(1579-1581)Gaa>Aaa	p.E527K	UGT2A3_ENST00000420231.2_Missense_Mutation_p.E238K	NM_024743.3	NP_079019.3	Q6UWM9	UD2A3_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A3	527						integral to membrane	glucuronosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						AAGATCTATTCCCTCTTTTCT	0.333													20	46					0	0	1	0	0	T	69795536	C	T	69795536	3	4	81	1	0	0	0	0	1	0	0	0	17015	864	30	2	8	2	UGT2A3	4	69795536	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	113106	69795536	121358740	3842	7458											
UGT2A3	79799	broad.mit.edu	37	4	69796420	69796420	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:69796420T>C	ENST00000251566.4	-	5	1178	c.1148A>G	c.(1147-1149)tAc>tGc	p.Y383C	UGT2A3_ENST00000420231.2_Missense_Mutation_p.Y94C	NM_024743.3	NP_079019.3	Q6UWM9	UD2A3_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A3	383						integral to membrane	glucuronosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						GACCCCATGGTAAATAGCTTC	0.398													11	51					0	0	1	0	0	C	69796420	T	C	69796420	3	2	81	1	0	0	0	0	1	0	0	0	17015	1638	57	3	443	3	UGT2A3	4	69796420	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	884	69796420	121357856	3843	7459											
UGT2B4	7363	broad.mit.edu	37	4	70361049	70361049	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:70361049G>A	ENST00000305107.6	-	1	577	c.531C>T	c.(529-531)ggC>ggT	p.G177G	UGT2B4_ENST00000512583.1_Silent_p.G177G|UGT2B4_ENST00000506580.1_Intron|UGT2B4_ENST00000381096.3_Silent_p.G41G	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B4	177					estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47						CAATTGCGTAGCCAGGAGAGA	0.458													16	27					0	0	1	0	0	A	70361049	G	A	70361049	2	1	81	1	0	0	0	0	0	0	0	1	17021	958	34	2		2	UGT2B4	4	70361049	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	564629	70361049	120793227	3844	7460											
UGT2B4	7363	broad.mit.edu	37	4	70361517	70361517	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:70361517C>T	ENST00000305107.6	-	1	109	c.63G>A	c.(61-63)ggG>ggA	p.G21G	UGT2B4_ENST00000512583.1_Silent_p.G21G|UGT2B4_ENST00000506580.1_5'UTR|UGT2B4_ENST00000381096.3_Intron	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B4	21					estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47						TTCCACAACTCCCAGAGCTAA	0.468													66	122					0	0	1	0	0	T	70361517	C	T	70361517	2	4	81	1	0	0	0	0	0	0	0	1	17021	842	30	2		2	UGT2B4	4	70361517	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	468	70361517	120792759	3845	7461											
UGT2A1	10941	broad.mit.edu	37	4	70460361	70460361	+	Missense_Mutation	SNP	C	C	T	rs148464836	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:70460361C>T	ENST00000503640.1	-	5	1193	c.1138G>A	c.(1138-1140)Gaa>Aaa	p.E380K	UGT2A1_ENST00000286604.4_Missense_Mutation_p.E380K|UGT2A2_ENST00000457664.2_Missense_Mutation_p.E389K|UGT2A1_ENST00000512704.1_Missense_Mutation_p.E336K|UGT2A1_ENST00000514019.1_Missense_Mutation_p.E546K|UGT2A1_ENST00000502343.1_5'UTR	NM_006798.3	NP_006789.2	Q9Y4X1	UD2A1_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus	380					detection of chemical stimulus|sensory perception of smell	integral to membrane	glucuronosyltransferase activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						TAAATAGCTTCGTAGATCCCA	0.443													16	22					0	0	1	0	0	T	70460361	C	T	70460361	3	4	81	1	0	0	0	0	1	0	0	0	17013	893	31	1	453	1	UGT2A1	4	70460361	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	98844	70460361	120693915	3846	7462											
UGT2A1	10941	broad.mit.edu	37	4	70512749	70512749	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:70512749G>T	ENST00000503640.1	-	1	669	c.614C>A	c.(613-615)tCt>tAt	p.S205Y	UGT2A1_ENST00000286604.4_Missense_Mutation_p.S205Y|UGT2A1_ENST00000512704.1_Missense_Mutation_p.S205Y|UGT2A1_ENST00000514019.1_Missense_Mutation_p.S205Y	NM_006798.3	NP_006789.2	Q9Y4X1	UD2A1_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus	205					detection of chemical stimulus|sensory perception of smell	integral to membrane	glucuronosyltransferase activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						GTCAGTGAAAGACATTTGGTC	0.408													7	64					5.18039e-06	5.88187e-06	1	1	0	T	70512749	G	T	70512749	3	4	81	1	0	0	0	0	1	0	0	0	17013	942	33	4	993	4	UGT2A1	4	70512749	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	52388	70512749	120641527	3847	7463											
UGT2A1	10941	broad.mit.edu	37	4	70512785	70512785	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:70512785A>G	ENST00000503640.1	-	1	633	c.578T>C	c.(577-579)gTt>gCt	p.V193A	UGT2A1_ENST00000286604.4_Missense_Mutation_p.V193A|UGT2A1_ENST00000512704.1_Missense_Mutation_p.V193A|UGT2A1_ENST00000514019.1_Missense_Mutation_p.V193A	NM_006798.3	NP_006789.2	Q9Y4X1	UD2A1_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus	193					detection of chemical stimulus|sensory perception of smell	integral to membrane	glucuronosyltransferase activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						AACAGCAGGAACATAGGAAGG	0.413													17	45					0	0	1	0	0	G	70512785	A	G	70512785	3	3	81	1	0	0	0	0	1	0	0	0	17013	43	2	3	1029	3	UGT2A1	4	70512785	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	36	70512785	120641491	3848	7464	34	2									
UGT2A1	10941	broad.mit.edu	37	4	70512793	70512793	+	Silent	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:70512793A>C	ENST00000503640.1	-	1	625	c.570T>G	c.(568-570)ccT>ccG	p.P190P	UGT2A1_ENST00000286604.4_Silent_p.P190P|UGT2A1_ENST00000512704.1_Silent_p.P190P|UGT2A1_ENST00000514019.1_Silent_p.P190P	NM_006798.3	NP_006789.2	Q9Y4X1	UD2A1_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus	190					detection of chemical stimulus|sensory perception of smell	integral to membrane	glucuronosyltransferase activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						GAACATAGGAAGGAGGGTATG	0.408													8	62					0	0	1	0	0	C	70512793	A	C	70512793	2	2	81	1	0	0	0	0	0	0	0	1	17013	59	3	5		5	UGT2A1	4	70512793	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	8	70512793	120641483	3849	7465	34	2									
SULT1B1	27284	broad.mit.edu	37	4	70596338	70596338	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:70596338A>C	ENST00000310613.3	-	7	956	c.659T>G	c.(658-660)aTc>aGc	p.I220S		NM_014465.3	NP_055280.2	O43704	ST1B1_HUMAN	sulfotransferase family, cytosolic, 1B, member 1						3'-phosphoadenosine 5'-phosphosulfate metabolic process|cellular biogenic amine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|thyroid hormone metabolic process|xenobiotic metabolic process	cytosol				breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(14)|prostate(1)|upper_aerodigestive_tract(1)	24						CCTATCCAAGATCTCATCATT	0.358													5	30					0	0	1	0	0	C	70596338	A	C	70596338	3	2	81	1	0	0	0	0	1	0	0	0	15432	333	12	4	239	4	SULT1B1	4	70596338	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	83545	70596338	120557938	3850	7466											
SULT1B1	27284	broad.mit.edu	37	4	70599226	70599226	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:70599226C>A	ENST00000310613.3	-	6	800		c.e6-1			NM_014465.3	NP_055280.2	O43704	ST1B1_HUMAN	sulfotransferase family, cytosolic, 1B, member 1						3'-phosphoadenosine 5'-phosphosulfate metabolic process|cellular biogenic amine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|thyroid hormone metabolic process|xenobiotic metabolic process	cytosol				breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(14)|prostate(1)|upper_aerodigestive_tract(1)	24						CCATAGGCCACTAAAACCAGA	0.289													35	58					4.65686e-17	5.99349e-17	1	1	0	A	70599226	C	A	70599226	5	1	81	1	0	0	0	0	0	0	1	0	15432	579	20	4	400	4	SULT1B1	4	70599226	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2888	70599226	120555050	3851	7467											
CSN1S1	1446	broad.mit.edu	37	4	70810694	70810695	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:70810694_70810695insA	ENST00000246891.4	+	15	578_579	c.529_530insA	c.(529-531)gaafs	p.E177fs	CSN1S1_ENST00000507763.1_Frame_Shift_Ins_p.E168fs|CSN1S1_ENST00000507772.1_Frame_Shift_Ins_p.E169fs|CSN1S1_ENST00000505782.1_Frame_Shift_Ins_p.E161fs|CSN1S1_ENST00000444405.3_Frame_Shift_Ins_p.E168fs	NM_001890.1	NP_001881.1	P47710	CASA1_HUMAN	casein alpha s1	177						extracellular region	protein binding|transporter activity			lung(5)|prostate(1)|upper_aerodigestive_tract(1)	7						TGAAAATTATGAAAAAAATAAC	0.391													45	86	---	---	---	---						A	70810695	-	A	70810694	7	5	81	1	0	1	1	0	0	0	0	0	3972	1291	45	0	583	0	CSN1S1	4	70810694	Frame_Shift_Ins	INS	-	TCGA-DU-6392-01A-11D-1705-08	211468	70810694	120343582	3852	7468											
CSN3	1448	broad.mit.edu	37	4	71110547	71110547	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:71110547T>A	ENST00000304954.3	+	2	97	c.11T>A	c.(10-12)tTt>tAt	p.F4Y		NM_005212.2	NP_005203.2	P07498	CASK_HUMAN	casein kappa	4						extracellular region	protein binding			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18						ATGAAGAGTTTTCTTCTAGTT	0.284													7	45					0	0	1	0	0	A	71110547	T	A	71110547	3	1	81	1	0	0	0	0	1	0	0	0	3974	1841	64	5	13	5	CSN3	4	71110547	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	299853	71110547	120043729	3853	7469											
MUC7	4589	broad.mit.edu	37	4	71339760	71339760	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:71339760G>A	ENST00000413702.1	+	3	310	c.22G>A	c.(22-24)Gtg>Atg	p.V8M	MUC7_ENST00000514512.1_Intron|MUC7_ENST00000456088.1_Missense_Mutation_p.V8M|MUC7_ENST00000304887.5_Missense_Mutation_p.V8M	NM_001145006.1	NP_001138478.1	Q8TAX7	MUC7_HUMAN	mucin 7, secreted	8						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)			GCCGCTGTTTGTGTGCATCTG	0.398													21	81					0	0	1	0	0	A	71339760	G	A	71339760	3	1	81	1	0	0	0	0	1	0	0	0	10029	1377	48	2	24	2	MUC7	4	71339760	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	229213	71339760	119814516	3854	7470											
ENAM	10117	broad.mit.edu	37	4	71500102	71500102	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:71500102G>A	ENST00000396073.3	+	6	569	c.288G>A	c.(286-288)caG>caA	p.Q96Q		NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	96					bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel			haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			TGTGGCCTCAGCCACCACCCA	0.512													6	102					0	0	1	0	0	A	71500102	G	A	71500102	2	1	81	1	0	0	0	0	0	0	0	1	5140	962	34	2		2	ENAM	4	71500102	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	160342	71500102	119654174	3855	7471											
ENAM	10117	broad.mit.edu	37	4	71507838	71507838	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:71507838C>T	ENST00000396073.3	+	9	976	c.695C>T	c.(694-696)cCt>cTt	p.P232L	ENAM_ENST00000472903.1_Intron	NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	232					bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel			haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			GAAGAAGATCCTCCTAAAGCA	0.413													74	94					0	0	1	0	0	T	71507838	C	T	71507838	3	4	81	1	0	0	0	0	1	0	0	0	5140	681	24	2	725	2	ENAM	4	71507838	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	7736	71507838	119646438	3856	7472											
RUFY3	22902	broad.mit.edu	37	4	71650590	71650590	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:71650590A>G	ENST00000226328.4	+	10	1628	c.1065A>G	c.(1063-1065)ttA>ttG	p.L355L	RUFY3_ENST00000536664.1_Silent_p.L339L|RUFY3_ENST00000502653.1_Silent_p.L302L|RUFY3_ENST00000381006.3_Silent_p.L355L|RUFY3_ENST00000417478.2_Silent_p.L415L	NM_014961.3	NP_055776.1	Q7L099	RUFY3_HUMAN	RUN and FYVE domain containing 3	355					negative regulation of axonogenesis	filopodium|growth cone				endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)	16		all_hematologic(202;0.248)	Lung(101;0.235)			AGACACAATTACGATTGGTAA	0.348													3	14					0	0	1	0	0	G	71650590	A	G	71650590	2	3	81	1	0	0	0	0	0	0	0	1	13792	388	14	3		3	RUFY3	4	71650590	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	142752	71650590	119503686	3857	7473											
SLC4A4	8671	broad.mit.edu	37	4	72332189	72332189	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:72332189C>T	ENST00000340595.3	+	10	1590	c.1394C>T	c.(1393-1395)gCt>gTt	p.A465V	SLC4A4_ENST00000264485.5_Missense_Mutation_p.A509V|SLC4A4_ENST00000514331.1_3'UTR|SLC4A4_ENST00000512686.1_Missense_Mutation_p.A465V|SLC4A4_ENST00000425175.1_Missense_Mutation_p.A509V|SLC4A4_ENST00000351898.6_Missense_Mutation_p.A509V	NM_003759.3	NP_003750.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	509						basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)			CTGGGCACTGCTGTCTCTGGA	0.408													14	197					0	0	1	0	0	T	72332189	C	T	72332189	3	4	81	1	0	0	0	0	1	0	0	0	14711	797	28	2	1693	2	SLC4A4	4	72332189	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	681599	72332189	118822087	3858	7474											
SLC4A4	8671	broad.mit.edu	37	4	72338462	72338462	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:72338462T>C	ENST00000340595.3	+	11	1742	c.1546T>C	c.(1546-1548)Tgg>Cgg	p.W516R	SLC4A4_ENST00000264485.5_Missense_Mutation_p.W560R|SLC4A4_ENST00000514331.1_3'UTR|SLC4A4_ENST00000512686.1_Missense_Mutation_p.W516R|SLC4A4_ENST00000425175.1_Missense_Mutation_p.W560R|SLC4A4_ENST00000351898.6_Missense_Mutation_p.W560R	NM_003759.3	NP_003750.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	560						basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)			GATTGGCCTGTGGTCCGCCTT	0.428													90	123					0	0	1	0	0	C	72338462	T	C	72338462	3	2	81	1	0	0	0	0	1	0	0	0	14711	1696	59	3	1849	3	SLC4A4	4	72338462	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	6273	72338462	118815814	3859	7475											
SLC4A4	8671	broad.mit.edu	37	4	72338541	72338541	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:72338541A>G	ENST00000340595.3	+	11	1821	c.1625A>G	c.(1624-1626)gAg>gGg	p.E542G	SLC4A4_ENST00000264485.5_Missense_Mutation_p.E586G|SLC4A4_ENST00000514331.1_3'UTR|SLC4A4_ENST00000512686.1_Missense_Mutation_p.E542G|SLC4A4_ENST00000425175.1_Missense_Mutation_p.E586G|SLC4A4_ENST00000351898.6_Missense_Mutation_p.E586G	NM_003759.3	NP_003750.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	586						basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)			TTCACGGAGGAGGGCTTTTCC	0.448													52	97					0	0	1	0	0	G	72338541	A	G	72338541	3	3	81	1	0	0	0	0	1	0	0	0	14711	304	11	3	1928	3	SLC4A4	4	72338541	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	79	72338541	118815735	3860	7476											
SLC4A4	8671	broad.mit.edu	37	4	72338701	72338701	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:72338701G>A	ENST00000512686.1	+	11	1981	c.1785G>A	c.(1783-1785)acG>acA	p.T595T	SLC4A4_ENST00000340595.3_Intron|SLC4A4_ENST00000264485.5_Intron|SLC4A4_ENST00000514331.1_3'UTR|SLC4A4_ENST00000425175.1_Intron|SLC4A4_ENST00000351898.6_Intron			Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	0						basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)			AGGGCATTACGCTTTGTGTTT	0.458													26	58					0	0	1	0	0	A	72338701	G	A	72338701	2	1	81	1	0	0	0	0	0	0	0	1	14711	1102	38	1		1	SLC4A4	4	72338701	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	160	72338701	118815575	3861	7477											
SLC4A4	8671	broad.mit.edu	37	4	72400101	72400101	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:72400101T>C	ENST00000340595.3	+	15	2502	c.2306T>C	c.(2305-2307)cTc>cCc	p.L769P	SLC4A4_ENST00000264485.5_Missense_Mutation_p.L813P|SLC4A4_ENST00000425175.1_Missense_Mutation_p.L813P|SLC4A4_ENST00000351898.6_Missense_Mutation_p.L813P	NM_003759.3	NP_003750.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	813	Interaction with CA4.					basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)			GAACATAAACTCAAGGTAAGT	0.383													3	36					0	0	1	0	0	C	72400101	T	C	72400101	3	2	81	1	0	0	0	0	1	0	0	0	14711	1551	54	3	2625	3	SLC4A4	4	72400101	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	61400	72400101	118754175	3862	7478											
SLC4A4	8671	broad.mit.edu	37	4	72412185	72412185	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:72412185G>A	ENST00000340595.3	+	16	2625	c.2429G>A	c.(2428-2430)aGt>aAt	p.S810N	SLC4A4_ENST00000264485.5_Missense_Mutation_p.S854N|SLC4A4_ENST00000425175.1_Missense_Mutation_p.S854N|SLC4A4_ENST00000351898.6_Intron	NM_003759.3	NP_003750.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	854						basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)			CACATCGACAGTTTGAAGATG	0.478													22	37					0	0	1	0	0	A	72412185	G	A	72412185	3	1	81	1	0	0	0	0	1	0	0	0	14711	1029	36	2	2752	2	SLC4A4	4	72412185	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	12084	72412185	118742091	3863	7479											
GC	2638	broad.mit.edu	37	4	72631303	72631303	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:72631303C>A	ENST00000273951.8	-	4	662	c.319G>T	c.(319-321)Ggc>Tgc	p.G107C	GC_ENST00000513476.1_Missense_Mutation_p.G107C|GC_ENST00000504199.1_Missense_Mutation_p.G126C|GC_ENST00000503472.1_Splice_Site	NM_000583.3|NM_001204306.1	NP_000574.2|NP_001191235.1	P02774	VTDB_HUMAN	group-specific component (vitamin D binding protein)	107	Albumin 1.				hormone biosynthetic process|vitamin D metabolic process	cytosol|lysosomal lumen	actin binding|vitamin D binding|vitamin transporter activity			endometrium(5)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	45		all_hematologic(202;0.107)	Lung(101;0.148)		Cholecalciferol(DB00169)	TCAGCAGTGCCTGGGTGAACG	0.498													11	70					1.08611e-07	1.27405e-07	1	1	0	A	72631303	C	A	72631303	3	1	81	1	0	0	0	0	1	0	0	0	6322	681	24	4	1141	4	GC	4	72631303	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	219118	72631303	118522973	3864	7480											
NPFFR2	10886	broad.mit.edu	37	4	72897732	72897732	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:72897732G>A	ENST00000308744.6	+	1	212	c.114G>A	c.(112-114)caG>caA	p.Q38Q	NPFFR2_ENST00000344413.5_Silent_p.Q38Q	NM_004885.2	NP_004876.2	Q9Y5X5	NPFF2_HUMAN	neuropeptide FF receptor 2	38					detection of abiotic stimulus	actin cytoskeleton|integral to plasma membrane	neuropeptide receptor activity			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(24)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43			Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138)			GCGTCCAGCAGCGCGGCGGGC	0.677													16	19					0	0	1	0	0	A	72897732	G	A	72897732	2	1	81	1	0	0	0	0	0	0	0	1	10625	962	34	2		2	NPFFR2	4	72897732	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	266429	72897732	118256544	3865	7481											
ADAMTS3	9508	broad.mit.edu	37	4	73149302	73149302	+	Silent	SNP	G	G	A	rs113342288		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:73149302G>A	ENST00000286657.4	-	22	3205	c.3169C>T	c.(3169-3171)Ctg>Ttg	p.L1057L		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	1057					collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GGTGGTGGCAGGGTGCTACTG	0.463													7	116					0	0	1	0	0	A	73149302	G	A	73149302	2	1	81	1	0	0	0	0	0	0	0	1	266	991	35	2		2	ADAMTS3	4	73149302	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	251570	73149302	118004974	3866	7482											
ADAMTS3	9508	broad.mit.edu	37	4	73179425	73179425	+	Missense_Mutation	SNP	G	G	A	rs150168072		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:73179425G>A	ENST00000286657.4	-	12	1750	c.1714C>T	c.(1714-1716)Cgt>Tgt	p.R572C		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	572	TSP type-1 1.				collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GTTCTGAAACGAACACCAGTT	0.393													19	29					0	0	1	0	0	A	73179425	G	A	73179425	3	1	81	1	0	0	0	0	1	0	0	0	266	1058	37	1	1947	1	ADAMTS3	4	73179425	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	30123	73179425	117974851	3867	7483											
COX18	285521	broad.mit.edu	37	4	73931073	73931073	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:73931073G>A	ENST00000295890.4	-	3	583	c.492C>T	c.(490-492)aaC>aaT	p.N164N	COX18_ENST00000507544.2_Silent_p.N164N	NM_173827.2	NP_776188.1	Q8N8Q8	COX18_HUMAN	COX18 cytochrome C oxidase assembly factor	164					protein insertion into mitochondrial membrane|respiratory chain complex IV assembly	integral to mitochondrial inner membrane	protein transporter activity			large_intestine(4)|lung(2)	6	Breast(15;0.00096)		Epithelial(6;1.26e-06)|OV - Ovarian serous cystadenocarcinoma(6;9.45e-06)|all cancers(17;2.05e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			AAGGGTGGCAGTTATCTCGCA	0.438													28	57					0	0	1	0	0	A	73931073	G	A	73931073	2	1	81	1	0	0	0	0	0	0	0	1	3790	1020	36	2		2	COX18	4	73931073	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	751648	73931073	117223203	3868	7484											
ANKRD17	26057	broad.mit.edu	37	4	73964217	73964217	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:73964217C>A	ENST00000358602.4	-	26	4710	c.4594G>T	c.(4594-4596)Gaa>Taa	p.E1532*	ANKRD17_ENST00000330838.6_Nonsense_Mutation_p.E1281*|ANKRD17_ENST00000509867.2_Nonsense_Mutation_p.E1419*	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	1532					interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			CTTGGAGGTTCTGTCAAGACT	0.383													8	60					0.00448238	0.00470627	1	1	0	A	73964217	C	A	73964217	4	1	81	1	0	0	0	0	0	1	0	0	642	922	32	4	3253	4	ANKRD17	4	73964217	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	33144	73964217	117190059	3869	7485											
ALB	213	broad.mit.edu	37	4	74284028	74284028	+	Splice_Site	SNP	C	C	T	rs149079814	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:74284028C>T	ENST00000295897.4	+	12	1741	c.1652C>T	c.(1651-1653)aCt>aTt	p.T551I	ALB_ENST00000505649.1_3'UTR|ALB_ENST00000401494.3_Splice_Site_p.T436I|ALB_ENST00000415165.2_Splice_Site_p.T359I|ALB_ENST00000509063.1_Splice_Site_p.T551I|ALB_ENST00000503124.1_Splice_Site_p.T401I	NM_000477.5	NP_000468.1	P02768	ALBU_HUMAN	albumin	551	Albumin 3.			T -> A (in Ref. 11; CAH18185).	bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport	extracellular space|platelet alpha granule lumen|protein complex	antioxidant activity|chaperone binding|copper ion binding|DNA binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding			NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	48	Breast(15;0.00102)		Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin iodonated(DB00064)|Serum albumin(DB00096)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137)	AAGAAACAAACGTGAGGAGTA	0.358													15	20					0	0	1	0	0	T	74284028	C	T	74284028	5	4	81	1	0	0	0	0	0	0	1	0	483	550	19	1	1698	1	ALB	4	74284028	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	319811	74284028	116870248	3870	7486											
AFM	173	broad.mit.edu	37	4	74351700	74351700	+	Missense_Mutation	SNP	C	C	A	rs149614377		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:74351700C>A	ENST00000226355.3	+	4	485	c.392C>A	c.(391-393)tCt>tAt	p.S131Y		NM_001133.2	NP_001124.1	P43652	AFAM_HUMAN	afamin	131	Albumin 1.				vitamin transport		vitamin E binding			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	Breast(15;0.00102)		Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			AACAAGAAATCTGATGTGGGA	0.413													37	44					2.32173e-10	2.84064e-10	1	1	0	A	74351700	C	A	74351700	3	1	81	1	0	0	0	0	1	0	0	0	360	913	32	4	406	4	AFM	4	74351700	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	67672	74351700	116802576	3871	7487											
EREG	2069	broad.mit.edu	37	4	75231047	75231047	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:75231047G>A	ENST00000244869.2	+	1	188	c.22G>A	c.(22-24)Gag>Aag	p.E8K		NM_001432.2	NP_001423.1	O14944	EREG_HUMAN	epiregulin	8					angiogenesis|cell-cell signaling|cytokine-mediated signaling pathway|epidermal growth factor receptor signaling pathway|female meiosis|keratinocyte differentiation|keratinocyte proliferation|luteinizing hormone signaling pathway|mRNA transcription|negative regulation of epithelial cell proliferation|negative regulation of smooth muscle cell differentiation|negative regulation of transcription, DNA-dependent|oocyte maturation|organ morphogenesis|ovarian cumulus expansion|ovulation|positive regulation of cell division|positive regulation of cytokine production|positive regulation of DNA replication|positive regulation of epidermal growth factor receptor activity|positive regulation of fibroblast proliferation|positive regulation of innate immune response|positive regulation of interleukin-6 biosynthetic process|positive regulation of mitosis|positive regulation of phosphorylation|positive regulation of smooth muscle cell proliferation|primary follicle stage|wound healing	extracellular space|integral to plasma membrane	epidermal growth factor receptor binding|growth factor activity			breast(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(1)	13			Lung(101;0.196)			GAGGAGGATGGAGATGCTCTG	0.692													7	17					0	0	1	0	0	A	75231047	G	A	75231047	3	1	81	1	0	0	0	0	1	0	0	0	5248	1175	41	2	24	2	EREG	4	75231047	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	879347	75231047	115923229	3872	7488											
AREG	374	broad.mit.edu	37	4	75314872	75314872	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:75314872G>T	ENST00000395748.3	+	3	631	c.419G>T	c.(418-420)aGa>aTa	p.R140I	AREG_ENST00000511560.1_3'UTR|AREG_ENST00000264487.2_Missense_Mutation_p.R140I|AREG_ENST00000502307.1_Missense_Mutation_p.R140I	NM_001657.2	NP_001648.1	P15514	AREG_HUMAN	amphiregulin	140					cell proliferation|cell-cell signaling|epidermal growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|positive regulation of DNA replication	cell surface|extracellular space|integral to membrane	cytokine activity|growth factor activity			lung(4)	4			Lung(101;0.196)			agaagaaacagaaagaagaaa	0.353													8	9					8.00594e-06	9.07183e-06	1	1	0	T	75314872	G	T	75314872	3	4	81	1	0	0	0	0	1	0	0	0	840	942	33	4	429	4	AREG	4	75314872	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	83825	75314872	115839404	3873	7489											
PARM1	25849	broad.mit.edu	37	4	75938264	75938264	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:75938264G>A	ENST00000307428.7	+	2	885	c.673G>A	c.(673-675)Gtg>Atg	p.V225M	PARM1_ENST00000513238.1_Intron|RP11-44F21.2_ENST00000513770.1_RNA	NM_015393.3	NP_056208.2	Q6UWI2	PARM1_HUMAN	prostate androgen-regulated mucin-like protein 1	225					positive regulation of telomerase activity	early endosome|endosome membrane|Golgi membrane|integral to membrane|late endosome|plasma membrane				cervix(1)|endometrium(2)|lung(4)|ovary(1)	8						CCCAACAACTGTGTCAGGCAA	0.532													6	45					0	0	1	0	0	A	75938264	G	A	75938264	3	1	81	1	0	0	0	0	1	0	0	0	11499	1377	48	2	679	2	PARM1	4	75938264	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	623392	75938264	115216012	3874	7490											
RCHY1	25898	broad.mit.edu	37	4	76434492	76434492	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:76434492G>A	ENST00000324439.5	-	2	503	c.105C>T	c.(103-105)gaC>gaT	p.D35D	RCHY1_ENST00000514021.1_5'UTR|RCHY1_ENST00000451788.1_Silent_p.D35D|RCHY1_ENST00000380840.2_Intron|RCHY1_ENST00000512706.1_Silent_p.D13D|RCHY1_ENST00000513257.1_Silent_p.D35D	NM_001278536.1|NM_001278538.1|NM_001278539.1	NP_001265465.1|NP_001265467.1|NP_001265468.1	Q96PM5	ZN363_HUMAN	ring finger and CHY zinc finger domain containing 1, E3 ubiquitin protein ligase	35					positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein autoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nuclear speck|ubiquitin ligase complex	electron carrier activity|p53 binding|protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding			large_intestine(2)|pancreas(1)	3			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			TATAAAGCTTGTCACAGCAAG	0.373													5	13					0	0	1	0	0	A	76434492	G	A	76434492	2	1	81	1	0	0	0	0	0	0	0	1	13229	1368	48	2		2	RCHY1	4	76434492	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	496228	76434492	114719784	3875	7491											
THAP6	152815	broad.mit.edu	37	4	76447088	76447088	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:76447088C>A	ENST00000508105.1	+	3	399	c.308C>A	c.(307-309)gCt>gAt	p.A103D	THAP6_ENST00000507885.1_Intron|THAP6_ENST00000507557.1_Intron|THAP6_ENST00000507556.1_Intron|THAP6_ENST00000311638.3_Intron|THAP6_ENST00000380837.3_Intron|THAP6_ENST00000504190.1_Intron|THAP6_ENST00000514480.1_Intron|THAP6_ENST00000502620.1_Intron			Q8TBB0	THAP6_HUMAN	THAP domain containing 6	0						microtubule cytoskeleton	DNA binding|metal ion binding			lung(5)	5			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			AAATTACTTGCTGAGCTCATG	0.338													25	57					2.79863e-10	3.42042e-10	1	1	0	A	76447088	C	A	76447088	3	1	81	1	0	0	0	0	1	0	0	0	15908	812	28	4		4	THAP6	4	76447088	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	12596	76447088	114707188	3876	7492											
THAP6	152815	broad.mit.edu	37	4	76452331	76452331	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:76452331T>C	ENST00000311638.3	+	5	644	c.576T>C	c.(574-576)gaT>gaC	p.D192D	THAP6_ENST00000507885.1_Intron|THAP6_ENST00000507557.1_Intron|THAP6_ENST00000507556.1_Intron|THAP6_ENST00000380837.3_Silent_p.D150D|THAP6_ENST00000504190.1_Intron|THAP6_ENST00000514480.1_Silent_p.D192D|THAP6_ENST00000502620.1_Intron	NM_144721.4	NP_653322.1	Q8TBB0	THAP6_HUMAN	THAP domain containing 6	192						microtubule cytoskeleton	DNA binding|metal ion binding			lung(5)	5			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			AATTAAAGGATGAATGTCTGA	0.393													11	93					0	0	1	0	0	C	76452331	T	C	76452331	2	2	81	1	0	0	0	0	0	0	0	1	15908	1461	51	3		3	THAP6	4	76452331	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	5243	76452331	114701945	3877	7493											
USO1	8615	broad.mit.edu	37	4	76695832	76695832	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:76695832G>A	ENST00000538159.1	+	8	565	c.565G>A	c.(565-567)Gtc>Atc	p.V189I	USO1_ENST00000514213.2_Missense_Mutation_p.V172I			O60763	USO1_HUMAN	USO1 vesicle transport factor	187	Globular head.				intracellular protein transport|vesicle fusion with Golgi apparatus	cytosol|Golgi membrane	protein binding|protein transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			TCTATAGGGCGTCTTACTACT	0.348													6	44					0	0	1	0	0	A	76695832	G	A	76695832	3	1	81	1	0	0	0	0	1	0	0	0	17099	1145	40	1	430	1	USO1	4	76695832	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	243501	76695832	114458444	3878	7494											
USO1	8615	broad.mit.edu	37	4	76708250	76708250	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:76708250T>C	ENST00000538159.1	+	10	897	c.897T>C	c.(895-897)ccT>ccC	p.P299P	USO1_ENST00000514213.2_Silent_p.P282P			O60763	USO1_HUMAN	USO1 vesicle transport factor	297	Globular head.				intracellular protein transport|vesicle fusion with Golgi apparatus	cytosol|Golgi membrane	protein binding|protein transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			CCAACCCTCCTGGTGCTACCA	0.438													6	81					0	0	1	0	0	C	76708250	T	C	76708250	2	2	81	1	0	0	0	0	0	0	0	1	17099	1567	55	3		3	USO1	4	76708250	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	12418	76708250	114446026	3879	7495											
USO1	8615	broad.mit.edu	37	4	76730167	76730167	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:76730167C>T	ENST00000538159.1	+	22	2465	c.2465C>T	c.(2464-2466)aCa>aTa	p.T822I	USO1_ENST00000514213.2_Missense_Mutation_p.T798I			O60763	USO1_HUMAN	USO1 vesicle transport factor	813					intracellular protein transport|vesicle fusion with Golgi apparatus	cytosol|Golgi membrane	protein binding|protein transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			AAACTACAGACAGAAAAGCAG	0.338													6	4					0	0	1	0	0	T	76730167	C	T	76730167	3	4	81	1	0	0	0	0	1	0	0	0	17099	478	17	2	2361	2	USO1	4	76730167	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	21917	76730167	114424109	3880	7496											
NAAA	27163	broad.mit.edu	37	4	76842225	76842225	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:76842225T>G	ENST00000286733.4	-	6	819	c.718A>C	c.(718-720)Act>Cct	p.T240P	NAAA_ENST00000399497.3_Missense_Mutation_p.T240P|NAAA_ENST00000507956.1_Missense_Mutation_p.T240P|NAAA_ENST00000505594.1_Missense_Mutation_p.T139P	NM_014435.3	NP_055250.2	Q02083	NAAA_HUMAN	N-acylethanolamine acid amidase	240				T -> S (in Ref. 4; AAA60119).	lipid metabolic process	lysosome	hydrolase activity			endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	11						ATAAGGGGAGTCTTGGCCAAC	0.547													4	30					0	0	1	0	0	G	76842225	T	G	76842225	3	3	81	1	0	0	0	0	1	0	0	0	10175	1667	58	5	388	5	NAAA	4	76842225	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	112058	76842225	114312051	3881	7497											
SCARB2	950	broad.mit.edu	37	4	77091087	77091087	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:77091087A>C	ENST00000264896.2	-	8	1395	c.1046T>G	c.(1045-1047)tTt>tGt	p.F349C	SCARB2_ENST00000452464.2_Missense_Mutation_p.F206C	NM_005506.3	NP_005497.1	Q14108	SCRB2_HUMAN	scavenger receptor class B, member 2	349					cell adhesion|protein targeting to lysosome	integral to plasma membrane|lysosomal lumen|lysosomal membrane|membrane fraction	enzyme binding|receptor activity			breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(3)|prostate(2)|skin(1)	22			Lung(101;0.196)			GGCAGAAACAAACCTCTCATC	0.398													37	71					0	0	1	0	0	C	77091087	A	C	77091087	3	2	81	1	0	0	0	0	1	0	0	0	13935	14	1	5	410	5	SCARB2	4	77091087	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	248862	77091087	114063189	3882	7498											
CCDC158	339965	broad.mit.edu	37	4	77305273	77305273	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:77305273C>A	ENST00000388914.3	-	5	846	c.694G>T	c.(694-696)Gag>Tag	p.E232*	CCDC158_ENST00000434846.2_Nonsense_Mutation_p.E232*	NM_001042784.1	NP_001036249.1	Q5M9N0	CD158_HUMAN	coiled-coil domain containing 158	232			E -> D (in dbSNP:rs17001889).							breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						TAAGAAATCTCTGTGTCTAAT	0.343													16	27					2.48551e-13	3.1326e-13	1	1	0	A	77305273	C	A	77305273	4	1	81	1	0	0	0	0	0	1	0	0	2809	922	32	4	2727	4	CCDC158	4	77305273	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	214186	77305273	113849003	3883	7499											
SHROOM3	57619	broad.mit.edu	37	4	77700012	77700012	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:77700012C>A	ENST00000296043.6	+	11	6626	c.5673C>A	c.(5671-5673)gcC>gcA	p.A1891A	RP11-359D14.3_ENST00000449007.1_RNA	NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	1891	ASD2.				apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			ATGAGGATGCCCGGGAGCTGA	0.537													11	33					0.000673444	0.000721718	1	1	0	A	77700012	C	A	77700012	2	1	81	1	0	0	0	0	0	0	0	1	14350	610	22	5		5	SHROOM3	4	77700012	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	394739	77700012	113454264	3884	7500											
CNOT6L	246175	broad.mit.edu	37	4	78647395	78647395	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:78647395T>C	ENST00000504123.1	-	11	1511	c.1381A>G	c.(1381-1383)Aca>Gca	p.T461A	CNOT6L_ENST00000264903.4_Missense_Mutation_p.T461A			Q96LI5	CNO6L_HUMAN	CCR4-NOT transcription complex, subunit 6-like	461					nuclear-transcribed mRNA poly(A) tail shortening	cytosol	exonuclease activity|protein binding			kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1)	9						AAGCCATGTGTGATTCTCCCT	0.423													23	221					0	0	1	0	0	C	78647395	T	C	78647395	3	2	81	1	0	0	0	0	1	0	0	0	3646	1696	59	3	294	3	CNOT6L	4	78647395	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	947383	78647395	112506881	3885	7501											
CNOT6L	246175	broad.mit.edu	37	4	78695850	78695850	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:78695850T>C	ENST00000504123.1	-	3	278	c.148A>G	c.(148-150)Aca>Gca	p.T50A	CNOT6L_ENST00000264903.4_Missense_Mutation_p.T50A|CNOT6L_ENST00000506166.1_5'UTR			Q96LI5	CNO6L_HUMAN	CCR4-NOT transcription complex, subunit 6-like	50					nuclear-transcribed mRNA poly(A) tail shortening	cytosol	exonuclease activity|protein binding			kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1)	9						CAAAGTGATGTACTTAGGCTC	0.418													5	6					0	0	1	0	0	C	78695850	T	C	78695850	3	2	81	1	0	0	0	0	1	0	0	0	3646	1638	57	3	1559	3	CNOT6L	4	78695850	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	48455	78695850	112458426	3886	7502											
MRPL1	65008	broad.mit.edu	37	4	78804490	78804490	+	Missense_Mutation	SNP	G	G	A	rs138407676		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:78804490G>A	ENST00000315567.8	+	3	567	c.238G>A	c.(238-240)Ggc>Agc	p.G80S	MRPL1_ENST00000506674.1_3'UTR	NM_020236.3	NP_064621.3	Q9BYD6	RM01_HUMAN	mitochondrial ribosomal protein L1	80							RNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)	17						CTATATGGAAGGCGAACCTGA	0.328													19	31					0	0	1	0	0	A	78804490	G	A	78804490	3	1	81	1	0	0	0	0	1	0	0	0	9823	1000	35	2	248	2	MRPL1	4	78804490	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	108640	78804490	112349786	3887	7503											
FRAS1	80144	broad.mit.edu	37	4	79434660	79434660	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:79434660C>T	ENST00000264895.6	+	65	10568	c.10128C>T	c.(10126-10128)caC>caT	p.H3376H		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	3371					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						GACACCAGCACGTCTGCTCCA	0.498													54	72					0	0	1	0	0	T	79434660	C	T	79434660	2	4	81	1	0	0	0	0	0	0	0	1	6076	535	19	1		1	FRAS1	4	79434660	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	630170	79434660	111719616	3888	7504											
FRAS1	80144	broad.mit.edu	37	4	79443853	79443853	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:79443853T>C	ENST00000264895.6	+	69	11139	c.10699T>C	c.(10699-10701)Ttg>Ctg	p.L3567L		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	3562					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						ATCTTTCGTATTGACTCCAGA	0.433													14	10					0	0	1	0	0	C	79443853	T	C	79443853	2	2	81	1	0	0	0	0	0	0	0	1	6076	1490	52	3		3	FRAS1	4	79443853	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	9193	79443853	111710423	3889	7505											
FRAS1	80144	broad.mit.edu	37	4	79443936	79443936	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:79443936C>T	ENST00000264895.6	+	69	11222	c.10782C>T	c.(10780-10782)ctC>ctT	p.L3594L		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	3589					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						CACATCAACTCTGGAGAGCCA	0.433													4	14					0	0	1	0	0	T	79443936	C	T	79443936	2	4	81	1	0	0	0	0	0	0	0	1	6076	900	32	2		2	FRAS1	4	79443936	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	83	79443936	111710340	3890	7506											
ANXA3	306	broad.mit.edu	37	4	79522708	79522708	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:79522708C>T	ENST00000264908.6	+	11	1154	c.775C>T	c.(775-777)Cat>Tat	p.H259Y	ANXA3_ENST00000512884.1_Missense_Mutation_p.H220Y|ANXA3_ENST00000503570.2_Missense_Mutation_p.H220Y	NM_005139.2	NP_005130.1	P12429	ANXA3_HUMAN	annexin A3	259					defense response to bacterium|neutrophil degranulation|phagocytosis|positive regulation of angiogenesis|positive regulation of endothelial cell migration|positive regulation of sequence-specific DNA binding transcription factor activity	phagocytic vesicle membrane|plasma membrane|specific granule	calcium ion binding|calcium-dependent phospholipid binding|phospholipase A2 inhibitor activity			NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						CGAAAGACTGCATCGAGCCTT	0.383													20	38					0	0	1	0	0	T	79522708	C	T	79522708	3	4	81	1	0	0	0	0	1	0	0	0	713	710	25	2	813	2	ANXA3	4	79522708	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	78772	79522708	111631568	3891	7507											
FGF5	2250	broad.mit.edu	37	4	81188215	81188215	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:81188215C>A	ENST00000456523.3	+	1	423	c.237C>A	c.(235-237)ttC>ttA	p.F79L	FGF5_ENST00000312465.7_Missense_Mutation_p.F79L	NM_033143.2	NP_149134.1	P12034	FGF5_HUMAN	fibroblast growth factor 5	79					cell proliferation|cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell division|positive regulation of cell proliferation	extracellular space	fibroblast growth factor receptor binding|growth factor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22						AGAGCAGTTTCCAGTGGAGCC	0.612													32	62					1.47244e-24	1.94452e-24	1	1	0	A	81188215	C	A	81188215	3	1	81	1	0	0	0	0	1	0	0	0	5888	854	30	5	239	5	FGF5	4	81188215	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1665507	81188215	109966061	3892	7508											
C4orf22	255119	broad.mit.edu	37	4	81866076	81866076	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:81866076C>A	ENST00000358105.3	+	5	638	c.589C>A	c.(589-591)Ctt>Att	p.L197I	C4orf22_ENST00000508675.1_Missense_Mutation_p.L214I	NM_152770.2	NP_689983.2	Q6V702	CD022_HUMAN	chromosome 4 open reading frame 22	197								p.L197I(1)		NS(1)|large_intestine(3)|lung(5)|prostate(1)|skin(5)	15						CAGAAAAATTCTTAATGTGGA	0.333													16	56					4.7546e-09	5.70666e-09	1	1	0	A	81866076	C	A	81866076	3	1	81	1	0	0	0	0	1	0	0	0	2270	913	32	4	607	4	C4orf22	4	81866076	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	677861	81866076	109288200	3893	7509											
BMP3	651	broad.mit.edu	37	4	81967180	81967180	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:81967180T>C	ENST00000282701.2	+	2	925	c.605T>C	c.(604-606)aTc>aCc	p.I202T		NM_001201.2	NP_001192.2	P12645	BMP3_HUMAN	bone morphogenetic protein 3	202					cartilage development|cell differentiation|cell-cell signaling|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	29						TCTAAAGATATCACTCAACTC	0.438													18	131					0	0	1	0	0	C	81967180	T	C	81967180	3	2	81	1	0	0	0	0	1	0	0	0	1460	1435	50	3	611	3	BMP3	4	81967180	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	101104	81967180	109187096	3894	7510											
RASGEF1B	153020	broad.mit.edu	37	4	82369301	82369301	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:82369301T>C	ENST00000509081.1	-	5	794	c.573A>G	c.(571-573)ccA>ccG	p.P191P	RASGEF1B_ENST00000264400.2_Silent_p.P192P|RASGEF1B_ENST00000335927.7_Silent_p.P150P			Q0VAM2	RGF1B_HUMAN	RasGEF domain family, member 1B	192					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity			endometrium(2)|kidney(5)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	26						GTATAGACTGTGGCTTGGTCT	0.502													43	115					0	0	1	0	0	C	82369301	T	C	82369301	2	2	81	1	0	0	0	0	0	0	0	1	13122	1683	59	3		3	RASGEF1B	4	82369301	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	402121	82369301	108784975	3895	7511											
HNRNPD	3184	broad.mit.edu	37	4	83279852	83279852	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:83279852G>T	ENST00000313899.7	-	4	858	c.581C>A	c.(580-582)cCt>cAt	p.P194H	HNRNPD_ENST00000541060.1_Missense_Mutation_p.P40H|HNRNPD_ENST00000352301.4_Missense_Mutation_p.P175H|HNRNPD_ENST00000543098.1_Missense_Mutation_p.P142H|HNRNPD_ENST00000353341.4_Missense_Mutation_p.P194H	NM_031370.2	NP_112738.1	Q14103	HNRPD_HUMAN	heterogeneous nuclear ribonucleoprotein D (AU-rich element RNA binding protein 1, 37kDa)	194	RRM 2.				nuclear mRNA splicing, via spliceosome|positive regulation of transcription, DNA-dependent|RNA catabolic process|transcription, DNA-dependent	cytosol|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding|telomeric DNA binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(1)	7						TTTCTCTTCAGGTGTATCTGG	0.373													5	89					0.0215528	0.0221217	1	1	0	T	83279852	G	T	83279852	3	4	81	1	0	0	0	0	1	0	0	0	7305	1000	35	4	506	4	HNRNPD	4	83279852	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	910551	83279852	107874424	3896	7512											
HNRNPD	3184	broad.mit.edu	37	4	83279883	83279883	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:83279883delT	ENST00000313899.7	-	4	827	c.550delA	c.(550-552)attfs	p.I184fs	HNRNPD_ENST00000541060.1_Frame_Shift_Del_p.I30fs|HNRNPD_ENST00000352301.4_Frame_Shift_Del_p.I165fs|HNRNPD_ENST00000543098.1_Frame_Shift_Del_p.I132fs|HNRNPD_ENST00000353341.4_Frame_Shift_Del_p.I184fs	NM_031370.2	NP_112738.1	Q14103	HNRPD_HUMAN	heterogeneous nuclear ribonucleoprotein D (AU-rich element RNA binding protein 1, 37kDa)	184	RRM 2.				nuclear mRNA splicing, via spliceosome|positive regulation of transcription, DNA-dependent|RNA catabolic process|transcription, DNA-dependent	cytosol|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding|telomeric DNA binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(1)	7						CCAACAAAAATTTTTTTAACC	0.368													12	92	---	---	---	---						-	83279883	T	-	83279883	7	5	81	1	0	1	0	1	0	0	0	0	7305	1493	52	0	537	0	HNRNPD	4	83279883	Frame_Shift_Del	DEL	T	TCGA-DU-6392-01A-11D-1705-08	31	83279883	107874393	3897	7513											
TMEM150C	441027	broad.mit.edu	37	4	83406871	83406871	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:83406871G>A	ENST00000515780.2	-	8	747	c.543C>T	c.(541-543)taC>taT	p.Y181Y	TMEM150C_ENST00000449862.2_Splice_Site_p.Y181Y			B9EJG8	T150C_HUMAN	transmembrane protein 150C							integral to membrane				ovary(1)	1						TGAGGATGAAGTCTGGGGAGA	0.493													6	13					0	0	1	0	0	A	83406871	G	A	83406871	5	1	81	1	0	0	0	0	0	0	1	0	16129	1043	36	2	210	2	TMEM150C	4	83406871	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	126988	83406871	107747405	3898	7514											
SCD5	79966	broad.mit.edu	37	4	83557907	83557907	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:83557907T>C	ENST00000319540.4	-	4	958	c.639A>G	c.(637-639)ggA>ggG	p.G213G		NM_001037582.2	NP_001032671.2	Q86SK9	SCD5_HUMAN	stearoyl-CoA desaturase 5	213					fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	iron ion binding|stearoyl-CoA 9-desaturase activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)	13		Colorectal(4;0.0323)|Hepatocellular(203;0.115)				ACAGACTCTCTCCCCAGATGT	0.527													6	27					0	0	1	0	0	C	83557907	T	C	83557907	2	2	81	1	0	0	0	0	0	0	0	1	13940	1538	54	3		3	SCD5	4	83557907	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	151036	83557907	107596369	3899	7515											
THAP9	79725	broad.mit.edu	37	4	83826058	83826058	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:83826058G>A	ENST00000302236.5	+	2	301	c.250G>A	c.(250-252)Gct>Act	p.A84T		NM_024672.4	NP_078948.3	Q9H5L6	THAP9_HUMAN	THAP domain containing 9	84							DNA binding|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(13)|lung(5)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(3)	33		Hepatocellular(203;0.114)				GAAAAAAGGAGCTGTGCCTTC	0.353													29	48					0	0	1	0	0	A	83826058	G	A	83826058	3	1	81	1	0	0	0	0	1	0	0	0	15911	971	34	2	256	2	THAP9	4	83826058	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	268151	83826058	107328218	3900	7516											
THAP9	79725	broad.mit.edu	37	4	83828938	83828938	+	Splice_Site	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:83828938A>G	ENST00000302236.5	+	4	632	c.581A>G	c.(580-582)gAt>gGt	p.D194G		NM_024672.4	NP_078948.3	Q9H5L6	THAP9_HUMAN	THAP domain containing 9	194							DNA binding|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(13)|lung(5)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(3)	33		Hepatocellular(203;0.114)				ATTTTAACAGATTTTAAGTGG	0.308													10	26					0	0	1	0	0	G	83828938	A	G	83828938	5	3	81	1	0	0	0	0	0	0	1	0	15911	347	12	3	595	3	THAP9	4	83828938	Splice_Site	SNP	A	TCGA-DU-6392-01A-11D-1705-08	2880	83828938	107325338	3901	7517											
THAP9	79725	broad.mit.edu	37	4	83838258	83838258	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:83838258G>T	ENST00000302236.5	+	5	944	c.893G>T	c.(892-894)aGt>aTt	p.S298I	LIN54_ENST00000505905.1_Intron	NM_024672.4	NP_078948.3	Q9H5L6	THAP9_HUMAN	THAP domain containing 9	298							DNA binding|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(13)|lung(5)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(3)	33		Hepatocellular(203;0.114)				AGCAGTCACAGTTTGCAGGGG	0.418													42	87					2.58029e-29	3.43684e-29	1	1	0	T	83838258	G	T	83838258	3	4	81	1	0	0	0	0	1	0	0	0	15911	1029	36	4	911	4	THAP9	4	83838258	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	9320	83838258	107316018	3902	7518											
LIN54	132660	broad.mit.edu	37	4	83891528	83891528	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:83891528T>C	ENST00000340417.3	-	4	1280	c.903A>G	c.(901-903)acA>acG	p.T301T	LIN54_ENST00000505397.1_Silent_p.T301T|LIN54_ENST00000446851.2_Silent_p.T80T|LIN54_ENST00000395282.2_3'UTR|LIN54_ENST00000395283.2_Intron|LIN54_ENST00000510557.1_Silent_p.T80T|LIN54_ENST00000506560.1_Intron|LIN54_ENST00000442461.2_Silent_p.T80T	NM_194282.2	NP_919258.2	Q6MZP7	LIN54_HUMAN	lin-54 homolog (C. elegans)	301					cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(5)	14		Hepatocellular(203;0.114)				TTGGTGTCTGTGTTGTAGAAT	0.353													6	158					0	0	1	0	0	C	83891528	T	C	83891528	2	2	81	1	0	0	0	0	0	0	0	1	8850	1683	59	3		3	LIN54	4	83891528	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	53270	83891528	107262748	3903	7519											
LIN54	132660	broad.mit.edu	37	4	83905840	83905840	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:83905840G>T	ENST00000340417.3	-	2	535	c.158C>A	c.(157-159)aCt>aAt	p.T53N	LIN54_ENST00000505397.1_Missense_Mutation_p.T53N|LIN54_ENST00000446851.2_Intron|LIN54_ENST00000395282.2_Missense_Mutation_p.T53N|LIN54_ENST00000395283.2_Missense_Mutation_p.T53N|LIN54_ENST00000510557.1_Intron|LIN54_ENST00000506560.1_Missense_Mutation_p.T53N|LIN54_ENST00000442461.2_Intron	NM_194282.2	NP_919258.2	Q6MZP7	LIN54_HUMAN	lin-54 homolog (C. elegans)	53					cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(5)	14		Hepatocellular(203;0.114)				AGAGTCACCAGTAGAATTTAT	0.408													39	44					2.19358e-23	2.88969e-23	1	1	0	T	83905840	G	T	83905840	3	4	81	1	0	0	0	0	1	0	0	0	8850	1029	36	4	2139	4	LIN54	4	83905840	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	14312	83905840	107248436	3904	7520											
LIN54	132660	broad.mit.edu	37	4	83905871	83905871	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:83905871C>T	ENST00000340417.3	-	2	504	c.127G>A	c.(127-129)Gaa>Aaa	p.E43K	LIN54_ENST00000505397.1_Missense_Mutation_p.E43K|LIN54_ENST00000446851.2_Intron|LIN54_ENST00000395282.2_Missense_Mutation_p.E43K|LIN54_ENST00000395283.2_Missense_Mutation_p.E43K|LIN54_ENST00000510557.1_Intron|LIN54_ENST00000506560.1_Missense_Mutation_p.E43K|LIN54_ENST00000442461.2_Intron	NM_194282.2	NP_919258.2	Q6MZP7	LIN54_HUMAN	lin-54 homolog (C. elegans)	43					cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(5)	14		Hepatocellular(203;0.114)				TCTTCCAGTTCTGTCTCCATG	0.413													28	51					0	0	1	0	0	T	83905871	C	T	83905871	3	4	81	1	0	0	0	0	1	0	0	0	8850	922	32	2	2170	2	LIN54	4	83905871	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	31	83905871	107248405	3905	7521											
COPS4	51138	broad.mit.edu	37	4	83971034	83971034	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:83971034G>A	ENST00000509093.1	+	4	1085	c.307G>A	c.(307-309)Gtt>Att	p.V103I	COPS4_ENST00000503682.1_Splice_Site_p.V103I|COPS4_ENST00000264389.2_Splice_Site_p.V103I|COPS4_ENST00000511653.1_Splice_Site_p.V103I	NM_001258006.1	NP_001244935.1	Q9BT78	CSN4_HUMAN	COP9 signalosome subunit 4	103					cullin deneddylation	cytoplasm|signalosome	protein binding			endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|urinary_tract(2)	13		Hepatocellular(203;0.114)				ATTATTCCAGGTTGCTTCCAT	0.333													31	43					0	0	1	0	0	A	83971034	G	A	83971034	5	1	81	1	0	0	0	0	0	0	1	0	3758	1275	44	2	321	2	COPS4	4	83971034	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	65163	83971034	107183242	3906	7522											
COPS4	51138	broad.mit.edu	37	4	83984237	83984237	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:83984237C>T	ENST00000509093.1	+	7	1502	c.724C>T	c.(724-726)Cgt>Tgt	p.R242C	COPS4_ENST00000503682.1_Missense_Mutation_p.R242C|COPS4_ENST00000264389.2_Missense_Mutation_p.R242C|COPS4_ENST00000511653.1_Missense_Mutation_p.R242C	NM_001258006.1	NP_001244935.1	Q9BT78	CSN4_HUMAN	COP9 signalosome subunit 4	242	PCI.				cullin deneddylation	cytoplasm|signalosome	protein binding			endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|urinary_tract(2)	13		Hepatocellular(203;0.114)				AGGGCAGCAGCGTTCTCGGAT	0.378													33	54					0	0	1	0	0	T	83984237	C	T	83984237	3	4	81	1	0	0	0	0	1	0	0	0	3758	768	27	1	750	1	COPS4	4	83984237	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	13203	83984237	107170039	3907	7523											
COPS4	51138	broad.mit.edu	37	4	83984281	83984281	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:83984281G>A	ENST00000509093.1	+	7	1546	c.768G>A	c.(766-768)caG>caA	p.Q256Q	COPS4_ENST00000503682.1_Silent_p.Q256Q|COPS4_ENST00000264389.2_Silent_p.Q256Q|COPS4_ENST00000511653.1_Silent_p.Q256Q	NM_001258006.1	NP_001244935.1	Q9BT78	CSN4_HUMAN	COP9 signalosome subunit 4	256	PCI.				cullin deneddylation	cytoplasm|signalosome	protein binding			endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|urinary_tract(2)	13		Hepatocellular(203;0.114)				AAAGGTGCCAGCAACTTGCTG	0.403													32	54					0	0	1	0	0	A	83984281	G	A	83984281	2	1	81	1	0	0	0	0	0	0	0	1	3758	962	34	2		2	COPS4	4	83984281	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	44	83984281	107169995	3908	7524											
COQ2	27235	broad.mit.edu	37	4	84194771	84194771	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:84194771C>A	ENST00000311469.4	-	3	570		c.e3-1		COQ2_ENST00000514935.1_Splice_Site|COQ2_ENST00000439031.2_Splice_Site|COQ2_ENST00000311461.7_Splice_Site	NM_015697.7	NP_056512.5	Q96H96	COQ2_HUMAN	coenzyme Q2 4-hydroxybenzoate polyprenyltransferase						glycerol metabolic process|isoprenoid biosynthetic process|ubiquinone biosynthetic process	mitochondrial membrane	4-hydroxybenzoate decaprenyltransferase activity|4-hydroxybenzoate nonaprenyltransferase activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|ovary(1)|skin(1)|stomach(1)	8		Hepatocellular(203;0.114)				TTCTTGTAACCTTAAAACATA	0.393													6	100					0.00307968	0.00324365	1	1	0	A	84194771	C	A	84194771	5	1	81	1	0	0	0	0	0	0	1	0	3768	695	24	4	715	4	COQ2	4	84194771	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	210490	84194771	106959505	3909	7525											
HPSE	10855	broad.mit.edu	37	4	84216533	84216533	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:84216533delA	ENST00000405413.2	-	13	1732	c.1596delT	c.(1594-1596)tttfs	p.F532fs	HPSE_ENST00000513463.1_Frame_Shift_Del_p.F474fs|HPSE_ENST00000311412.5_Frame_Shift_Del_p.F532fs|HPSE_ENST00000512196.1_Frame_Shift_Del_p.F458fs	NM_006665.5	NP_006656.2	Q9Y251	HPSE_HUMAN	heparanase	532	Required for transferring proheparanase to the Golgi apparatus, secretion and subsequent enzyme activity and for enhancement of PKB/AKT1 phosphorylation.				carbohydrate metabolic process|cell adhesion|proteoglycan metabolic process	extracellular region|lysosomal membrane|nucleus	beta-glucuronidase activity|cation binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	20		Hepatocellular(203;0.114)		COAD - Colon adenocarcinoma(81;0.141)	Heparin(DB01109)	TTCTTATCACAAAAAAACTAT	0.383													14	117	---	---	---	---						-	84216533	A	-	84216533	7	5	81	1	0	1	0	1	0	0	0	0	7385	127	5	0	39	0	HPSE	4	84216533	Frame_Shift_Del	DEL	A	TCGA-DU-6392-01A-11D-1705-08	21762	84216533	106937743	3910	7526											
HPSE	10855	broad.mit.edu	37	4	84227394	84227394	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:84227394T>C	ENST00000405413.2	-	10	1304	c.1168A>G	c.(1168-1170)Aac>Gac	p.N390D	HPSE_ENST00000513463.1_Missense_Mutation_p.N332D|HPSE_ENST00000512196.1_Intron|HPSE_ENST00000311412.5_Missense_Mutation_p.N390D	NM_006665.5	NP_006656.2	Q9Y251	HPSE_HUMAN	heparanase	390					carbohydrate metabolic process|cell adhesion|proteoglycan metabolic process	extracellular region|lysosomal membrane|nucleus	beta-glucuronidase activity|cation binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	20		Hepatocellular(203;0.114)		COAD - Colon adenocarcinoma(81;0.141)	Heparin(DB01109)	AAATGGTAGTTTCCTGCTCCA	0.443													37	40					0	0	1	0	0	C	84227394	T	C	84227394	3	2	81	1	0	0	0	0	1	0	0	0	7385	1841	64	3	479	3	HPSE	4	84227394	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	10861	84227394	106926882	3911	7527											
MRPS18C	51023	broad.mit.edu	37	4	84379555	84379555	+	Silent	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:84379555A>C	ENST00000295491.4	+	3	320	c.207A>C	c.(205-207)ggA>ggC	p.G69G	MRPS18C_ENST00000507019.1_Intron|MRPS18C_ENST00000507349.1_Intron	NM_016067.2	NP_057151.1	Q9Y3D5	RT18C_HUMAN	mitochondrial ribosomal protein S18C	69					translation	mitochondrial small ribosomal subunit	structural constituent of ribosome			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5		Hepatocellular(203;0.114)				TCTTGTGTGGAAAGCATGTAG	0.328													20	45					0	0	1	0	0	C	84379555	A	C	84379555	2	2	81	1	0	0	0	0	0	0	0	1	9879	233	9	5		5	MRPS18C	4	84379555	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	152161	84379555	106774721	3912	7528											
FAM175A	84142	broad.mit.edu	37	4	84383731	84383731	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:84383731G>T	ENST00000321945.7	-	9	1229	c.1121C>A	c.(1120-1122)aCt>aAt	p.T374N	FAM175A_ENST00000506553.1_Missense_Mutation_p.T325N|MRPS18C_ENST00000509571.1_Intron	NM_139076.2	NP_620775.2	Q6UWZ7	F175A_HUMAN	family with sequence similarity 175, member A	374					chromatin modification|double-strand break repair|G2/M transition DNA damage checkpoint|positive regulation of DNA repair|response to ionizing radiation	BRCA1-A complex	polyubiquitin binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	13						ACTACTACCAGTATCTGCTTT	0.383													69	116					5.98616e-33	8.00097e-33	1	1	0	T	84383731	G	T	84383731	3	4	81	1	0	0	0	0	1	0	0	0	5527	1029	36	4	112	4	FAM175A	4	84383731	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	4176	84383731	106770545	3913	7529											
FAM175A	84142	broad.mit.edu	37	4	84383808	84383808	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:84383808G>T	ENST00000321945.7	-	9	1152	c.1044C>A	c.(1042-1044)gcC>gcA	p.A348A	FAM175A_ENST00000506553.1_Silent_p.A299A|MRPS18C_ENST00000509571.1_Intron	NM_139076.2	NP_620775.2	Q6UWZ7	F175A_HUMAN	family with sequence similarity 175, member A	348			A -> T (common polymorphism not associated with susceptibility to breast cancer; dbSNP:rs12642536).		chromatin modification|double-strand break repair|G2/M transition DNA damage checkpoint|positive regulation of DNA repair|response to ionizing radiation	BRCA1-A complex	polyubiquitin binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	13						CTAAGTCTAAGGCTTTATGCT	0.393													10	152					7.48243e-07	8.64403e-07	1	1	0	T	84383808	G	T	84383808	2	4	81	1	0	0	0	0	0	0	0	1	5527	987	35	4		4	FAM175A	4	84383808	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	77	84383808	106770468	3914	7530											
AGPAT9	84803	broad.mit.edu	37	4	84465730	84465730	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:84465730G>A	ENST00000395226.2	+	3	401	c.183G>A	c.(181-183)tcG>tcA	p.S61S	AGPAT9_ENST00000264409.4_Silent_p.S61S	NM_001256421.1	NP_001243350.1	Q53EU6	GPAT3_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 9	61					phospholipid biosynthetic process|regulation of TOR signaling cascade|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	glycerol-3-phosphate O-acyltransferase activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(3)	13		Hepatocellular(203;0.114)				CAAAGGAGTCGATTCTTAAAA	0.343													59	84					0	0	1	0	0	A	84465730	G	A	84465730	2	1	81	1	0	0	0	0	0	0	0	1	389	1045	37	1		1	AGPAT9	4	84465730	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	81922	84465730	106688546	3915	7531											
CDS1	1040	broad.mit.edu	37	4	85560115	85560115	+	Silent	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:85560115T>A	ENST00000295887.5	+	9	1272	c.849T>A	c.(847-849)ggT>ggA	p.G283G		NM_001263.3	NP_001254.2	Q92903	CDS1_HUMAN	CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 1	283					signal transduction|visual perception	endoplasmic reticulum membrane|integral to membrane	diacylglycerol cholinephosphotransferase activity|phosphatidate cytidylyltransferase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|liver(2)|lung(5)|ovary(1)	20		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.00101)		TCATTGGTGGTTTCTTTTCCA	0.299													14	37					0	0	1	0	0	A	85560115	T	A	85560115	2	1	81	1	0	0	0	0	0	0	0	1	3199	1712	60	5		5	CDS1	4	85560115	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	1094385	85560115	105594161	3916	7532											
WDFY3	23001	broad.mit.edu	37	4	85612936	85612936	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:85612936G>A	ENST00000322366.6	-	59	9408	c.9001C>T	c.(9001-9003)Ctc>Ttc	p.L3001F	WDFY3_ENST00000295888.4_Missense_Mutation_p.L3018F			Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	3018						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		GGTTCTTTGAGTTCTAGAAAA	0.338													15	31					0	0	1	0	0	A	85612936	G	A	85612936	3	1	81	1	0	0	0	0	1	0	0	0	17330	1029	36	2	1564	2	WDFY3	4	85612936	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	52821	85612936	105541340	3917	7533											
WDFY3	23001	broad.mit.edu	37	4	85626601	85626601	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:85626601C>A	ENST00000322366.6	-	53	8637	c.8230G>T	c.(8230-8232)Gat>Tat	p.D2744Y	WDFY3_ENST00000295888.4_Missense_Mutation_p.D2761Y			Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	2761	BEACH.					cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		AATCGTTCATCTGTTTGTGCT	0.383													11	120					4.68919e-08	5.54405e-08	1	1	0	A	85626601	C	A	85626601	3	1	81	1	0	0	0	0	1	0	0	0	17330	913	32	4	2359	4	WDFY3	4	85626601	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	13665	85626601	105527675	3918	7534											
WDFY3	23001	broad.mit.edu	37	4	85719252	85719253	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:85719252_85719253insA	ENST00000322366.6	-	18	3238_3239	c.2831_2832insT	c.(2830-2832)ttafs	p.L944fs	WDFY3_ENST00000295888.4_Frame_Shift_Ins_p.L944fs			Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	944						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		TTGCCAAACGTAAAAACTCCCT	0.317													34	49	---	---	---	---						A	85719253	-	A	85719252	7	5	81	1	0	1	1	0	0	0	0	0	17330	1635	57	0	7952	0	WDFY3	4	85719252	Frame_Shift_Ins	INS	-	TCGA-DU-6392-01A-11D-1705-08	92651	85719252	105435024	3919	7535											
ARHGAP24	83478	broad.mit.edu	37	4	86921845	86921845	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:86921845C>T	ENST00000395184.1	+	10	2683	c.2217C>T	c.(2215-2217)acC>acT	p.T739T	ARHGAP24_ENST00000395183.2_Silent_p.T644T|RP13-514E23.2_ENST00000610225.1_RNA|ARHGAP24_ENST00000264343.4_Silent_p.T646T	NM_001025616.2	NP_001020787.2	Q8N264	RHG24_HUMAN	Rho GTPase activating protein 24	739					angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell projection|cytoskeleton|cytosol|focal adhesion	GTPase activator activity|protein binding			breast(3)|cervix(1)|endometrium(3)|large_intestine(4)|lung(10)|skin(1)|stomach(1)|urinary_tract(1)	24		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000571)		CCAGGAGAACCGAGAGAGGAA	0.473													3	18					0	0	1	0	0	T	86921845	C	T	86921845	2	4	81	1	0	0	0	0	0	0	0	1	870	639	23	1		1	ARHGAP24	4	86921845	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1202593	86921845	104232431	3920	7536											
MAPK10	5602	broad.mit.edu	37	4	87028381	87028381	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:87028381T>C	ENST00000395169.3	-	5	967	c.247A>G	c.(247-249)Aaa>Gaa	p.K83E	MAPK10_ENST00000449047.2_De_novo_Start_InFrame|MAPK10_ENST00000361569.2_Missense_Mutation_p.K121E|MAPK10_ENST00000395160.3_De_novo_Start_InFrame|MAPK10_ENST00000395166.1_Missense_Mutation_p.K83E|MAPK10_ENST00000359221.3_Missense_Mutation_p.K121E|MAPK10_ENST00000395161.2_Missense_Mutation_p.K121E|MAPK10_ENST00000513839.1_5'UTR|MAPK10_ENST00000395157.3_De_novo_Start_InFrame	NM_138980.2|NM_138982.2	NP_620446.1|NP_620448.1	P53779	MK10_HUMAN	mitogen-activated protein kinase 10	121	Protein kinase.				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|JUN kinase activity|MAP kinase kinase activity|protein binding			breast(1)|central_nervous_system(1)|stomach(1)	3		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.243)		OV - Ovarian serous cystadenocarcinoma(123;0.002)		CTCACGTTTTTATGGTTCACA	0.418													15	32					0	0	1	0	0	C	87028381	T	C	87028381	3	2	81	1	0	0	0	0	1	0	0	0	9322	1763	61	3	1078	3	MAPK10	4	87028381	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	106536	87028381	104125895	3921	7537											
PTPN13	5783	broad.mit.edu	37	4	87622930	87622930	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:87622930C>A	ENST00000436978.1	+	7	1651	c.1171C>A	c.(1171-1173)Ctg>Atg	p.L391M	PTPN13_ENST00000316707.6_Missense_Mutation_p.L391M|PTPN13_ENST00000427191.2_Missense_Mutation_p.L391M|PTPN13_ENST00000411767.2_Missense_Mutation_p.L391M|PTPN13_ENST00000511467.1_Missense_Mutation_p.L391M	NM_080683.2|NM_080685.2	NP_542414.1|NP_542416.1	Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	391						cytoplasm|cytoskeleton|plasma membrane	protein binding|protein tyrosine phosphatase activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		ACTTCAGGTTCTGAGGGAAGC	0.358													4	46					0.000602214	0.000646338	1	1	0	A	87622930	C	A	87622930	3	1	81	1	0	0	0	0	1	0	0	0	12832	912	32	4	1193	4	PTPN13	4	87622930	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	594549	87622930	103531346	3922	7538											
SLC10A6	345274	broad.mit.edu	37	4	87745020	87745020	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:87745020G>A	ENST00000273905.6	-	6	1102	c.955C>T	c.(955-957)Cat>Tat	p.H319Y		NM_197965.2	NP_932069.1	Q3KNW5	SOAT_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 6	319						integral to membrane|plasma membrane	bile acid:sodium symporter activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	9		Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248)		OV - Ovarian serous cystadenocarcinoma(123;0.00099)		TTTTTTCCATGTTTGTTCTTC	0.398													12	105					0	0	1	0	0	A	87745020	G	A	87745020	3	1	81	1	0	0	0	0	1	0	0	0	14433	1377	48	2	182	2	SLC10A6	4	87745020	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	122090	87745020	103409256	3923	7539											
SLC10A6	345274	broad.mit.edu	37	4	87752964	87752964	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:87752964T>C	ENST00000273905.6	-	3	713	c.566A>G	c.(565-567)cAa>cGa	p.Q189R	SLC10A6_ENST00000505535.1_5'UTR	NM_197965.2	NP_932069.1	Q3KNW5	SOAT_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 6	189						integral to membrane|plasma membrane	bile acid:sodium symporter activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	9		Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248)		OV - Ovarian serous cystadenocarcinoma(123;0.00099)		GATTTTGGATTGTTTTGGCCA	0.473													9	11					0	0	1	0	0	C	87752964	T	C	87752964	3	2	81	1	0	0	0	0	1	0	0	0	14433	1812	63	3	583	3	SLC10A6	4	87752964	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	7944	87752964	103401312	3924	7540											
SLC10A6	345274	broad.mit.edu	37	4	87769930	87769930	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:87769930G>A	ENST00000273905.6	-	1	486	c.339C>T	c.(337-339)aaC>aaT	p.N113N	SLC10A6_ENST00000505535.1_5'UTR	NM_197965.2	NP_932069.1	Q3KNW5	SOAT_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 6	113						integral to membrane|plasma membrane	bile acid:sodium symporter activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	9		Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248)		OV - Ovarian serous cystadenocarcinoma(123;0.00099)		AGGTGAAAATGTTAGAGATGG	0.493													9	109					0	0	1	0	0	A	87769930	G	A	87769930	2	1	81	1	0	0	0	0	0	0	0	1	14433	1368	48	2		2	SLC10A6	4	87769930	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	16966	87769930	103384346	3925	7541											
AFF1	4299	broad.mit.edu	37	4	87968380	87968380	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:87968380G>A	ENST00000307808.6	+	3	1092	c.672G>A	c.(670-672)acG>acA	p.T224T	AFF1_ENST00000544085.1_Intron|AFF1_ENST00000395146.4_Silent_p.T231T	NM_005935.2	NP_005926.1	P51825	AFF1_HUMAN	AF4/FMR2 family, member 1	224						nucleus	sequence-specific DNA binding transcription factor activity			breast(1)|large_intestine(2)	3		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)		TTCCCCGGACGCAAGGAAGCA	0.498													6	110					0	0	1	0	0	A	87968380	G	A	87968380	2	1	81	1	0	0	0	0	0	0	0	1	355	1074	38	1		1	AFF1	4	87968380	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	198450	87968380	103185896	3926	7542											
AFF1	4299	broad.mit.edu	37	4	88036337	88036337	+	Silent	SNP	C	C	T	rs140176505	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:88036337C>T	ENST00000307808.6	+	11	2751	c.2331C>T	c.(2329-2331)ccC>ccT	p.P777P	AFF1_ENST00000544085.1_Silent_p.P415P|AFF1_ENST00000395146.4_Silent_p.P784P	NM_005935.2	NP_005926.1	P51825	AFF1_HUMAN	AF4/FMR2 family, member 1	777						nucleus	sequence-specific DNA binding transcription factor activity			breast(1)|large_intestine(2)	3		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)		CCCAGCCTCCCGGGAAGGGGA	0.587													11	22					0	0	1	0	0	T	88036337	C	T	88036337	2	4	81	1	0	0	0	0	0	0	0	1	355	639	23	1		1	AFF1	4	88036337	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	67957	88036337	103117939	3927	7543											
AFF1	4299	broad.mit.edu	37	4	88036378	88036378	+	Missense_Mutation	SNP	C	C	T	rs142319329		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:88036378C>T	ENST00000307808.6	+	11	2792	c.2372C>T	c.(2371-2373)cCg>cTg	p.P791L	AFF1_ENST00000544085.1_Missense_Mutation_p.P429L|AFF1_ENST00000395146.4_Missense_Mutation_p.P798L	NM_005935.2	NP_005926.1	P51825	AFF1_HUMAN	AF4/FMR2 family, member 1	791						nucleus	sequence-specific DNA binding transcription factor activity			breast(1)|large_intestine(2)	3		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)		GATAAACAGCCGCCCGCAGGG	0.567													11	8					0	0	1	0	0	T	88036378	C	T	88036378	3	4	81	1	0	0	0	0	1	0	0	0	355	652	23	1	2456	1	AFF1	4	88036378	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	41	88036378	103117898	3928	7544											
HSD17B13	345275	broad.mit.edu	37	4	88238285	88238285	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:88238285T>C	ENST00000328546.4	-	3	473	c.409A>G	c.(409-411)Att>Gtt	p.I137V	HSD17B13_ENST00000302219.6_Missense_Mutation_p.I101V	NM_178135.3	NP_835236.2	Q7Z5P4	DHB13_HUMAN	hydroxysteroid (17-beta) dehydrogenase 13	137						extracellular region	binding|oxidoreductase activity			endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1)	8		Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248)		OV - Ovarian serous cystadenocarcinoma(123;0.000308)		GTCTTGGTAATCTCTTCATCC	0.403													11	80					0	0	1	0	0	C	88238285	T	C	88238285	3	2	81	1	0	0	0	0	1	0	0	0	7423	1435	50	3	513	3	HSD17B13	4	88238285	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	201907	88238285	102915991	3929	7545											
HSD17B11	51170	broad.mit.edu	37	4	88258453	88258453	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:88258453A>G	ENST00000358290.4	-	7	1193	c.878T>C	c.(877-879)aTt>aCt	p.I293T	HSD17B11_ENST00000507518.1_5'UTR|HSD17B11_ENST00000507286.1_Missense_Mutation_p.I249T|RP11-529H2.2_ENST00000508163.1_RNA	NM_016245.3	NP_057329.2	Q8NBQ5	DHB11_HUMAN	hydroxysteroid (17-beta) dehydrogenase 11	293					androgen catabolic process|steroid biosynthetic process	cytoplasm|extracellular region	binding|estradiol 17-beta-dehydrogenase activity			cervix(1)|endometrium(4)|kidney(2)|lung(2)|ovary(2)	11		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000339)		TTTATATCCAATAACTGCATC	0.313													16	31					0	0	1	0	0	G	88258453	A	G	88258453	3	3	81	1	0	0	0	0	1	0	0	0	7421	101	4	3	28	3	HSD17B11	4	88258453	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	20168	88258453	102895823	3930	7546											
HSD17B11	51170	broad.mit.edu	37	4	88278558	88278558	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:88278558A>G	ENST00000358290.4	-	5	883	c.568T>C	c.(568-570)Ttt>Ctt	p.F190L	HSD17B11_ENST00000507518.1_5'UTR|HSD17B11_ENST00000507286.1_Missense_Mutation_p.F146L	NM_016245.3	NP_057329.2	Q8NBQ5	DHB11_HUMAN	hydroxysteroid (17-beta) dehydrogenase 11	190					androgen catabolic process|steroid biosynthetic process	cytoplasm|extracellular region	binding|estradiol 17-beta-dehydrogenase activity			cervix(1)|endometrium(4)|kidney(2)|lung(2)|ovary(2)	11		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000339)		ACAGCAGCAAACTTGCTTGAA	0.378													9	25					0	0	1	0	0	G	88278558	A	G	88278558	3	3	81	1	0	0	0	0	1	0	0	0	7421	43	2	3	346	3	HSD17B11	4	88278558	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	20105	88278558	102875718	3931	7547											
SPARCL1	8404	broad.mit.edu	37	4	88412805	88412805	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:88412805G>A	ENST00000418378.1	-	6	1827	c.1256C>T	c.(1255-1257)aCg>aTg	p.T419M	SPARCL1_ENST00000503414.1_Missense_Mutation_p.T294M|SPARCL1_ENST00000282470.6_Missense_Mutation_p.T419M	NM_001128310.1	NP_001121782.1	Q14515	SPRL1_HUMAN	SPARC-like 1 (hevin)	419			T -> A (in dbSNP:rs1130643).		signal transduction	extracellular space|proteinaceous extracellular matrix	calcium ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(2)	21				OV - Ovarian serous cystadenocarcinoma(123;0.00118)		TTCACTTGACGTTTCCTCCTC	0.398													27	45					0	0	1	0	0	A	88412805	G	A	88412805	3	1	81	1	0	0	0	0	1	0	0	0	15052	1145	40	1	766	1	SPARCL1	4	88412805	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	134247	88412805	102741471	3932	7548											
MEPE	56955	broad.mit.edu	37	4	88766237	88766237	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:88766237T>C	ENST00000497649.2	+	6	523	c.145T>C	c.(145-147)Tcc>Ccc	p.S49P	MEPE_ENST00000361056.3_Missense_Mutation_p.S73P|MEPE_ENST00000511670.1_3'UTR|MEPE_ENST00000540395.1_5'UTR|MEPE_ENST00000560249.1_5'UTR|MEPE_ENST00000395102.4_Missense_Mutation_p.S104P|MEPE_ENST00000508016.1_3'UTR|MEPE_ENST00000424957.3_Missense_Mutation_p.S73P			Q9NQ76	MEPE_HUMAN	matrix extracellular phosphoglycoprotein	73					skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000432)		GAAAGATTTGTCCCTTTCTGA	0.308													31	45					0	0	1	0	0	C	88766237	T	C	88766237	3	2	81	1	0	0	0	0	1	0	0	0	9528	1667	58	3	227	3	MEPE	4	88766237	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	353432	88766237	102388039	3933	7549											
PKD2	5311	broad.mit.edu	37	4	88957479	88957479	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:88957479C>A	ENST00000237596.2	+	3	883	c.817C>A	c.(817-819)Ctg>Atg	p.L273M		NM_000297.3	NP_000288.1	Q13563	PKD2_HUMAN	polycystic kidney disease 2 (autosomal dominant)	273						basal cortex|basal plasma membrane|endoplasmic reticulum|integral to membrane|lamellipodium|microtubule basal body	calcium ion binding|cytoskeletal protein binding|voltage-gated chloride channel activity|voltage-gated sodium channel activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(2)|lung(15)|skin(4)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221)		OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237)		CTTTAAAACTCTGTCTTCCAT	0.413													19	49					5.35267e-07	6.21096e-07	1	1	0	A	88957479	C	A	88957479	3	1	81	1	0	0	0	0	1	0	0	0	12014	912	32	4	827	4	PKD2	4	88957479	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	191242	88957479	102196797	3934	7550											
PPM1K	152926	broad.mit.edu	37	4	89199408	89199408	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:89199408G>A	ENST00000608933.1	-	2	717	c.328C>T	c.(328-330)Cgg>Tgg	p.R110W	PPM1K_ENST00000315194.4_Missense_Mutation_p.R110W|PPM1K_ENST00000506423.1_5'UTR|PPM1K_ENST00000295908.7_Missense_Mutation_p.R110W|PPM1K_ENST00000508256.1_Intron|PPM1K_ENST00000514204.1_Missense_Mutation_p.R110W	NM_152542.4	NP_689755.3	Q8N3J5	PPM1K_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1K		PP2C-like.				protein dephosphorylation	mitochondrial matrix|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	13		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000192)		AAGTCAAACCGATCTTCATTC	0.498													9	23					0	0	1	0	0	A	89199408	G	A	89199408	3	1	81	1	0	0	0	0	1	0	0	0	12392	1057	37	1	814	1	PPM1K	4	89199408	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	241929	89199408	101954868	3935	7551											
HERC6	55008	broad.mit.edu	37	4	89319298	89319298	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:89319298C>T	ENST00000380265.5	+	8	1212	c.1029C>T	c.(1027-1029)ttC>ttT	p.F343F	HERC6_ENST00000264346.7_Silent_p.F343F	NM_001165136.1	NP_001158608.1	Q8IVU3	HERC6_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 6	343			F -> L (in dbSNP:rs17014118).		protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytosol	ubiquitin-protein ligase activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	11		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000222)		TTTTAGACTTCGTGGATGTTC	0.294													5	11					0	0	1	0	0	T	89319298	C	T	89319298	2	4	81	1	0	0	0	0	0	0	0	1	7103	883	31	1		1	HERC6	4	89319298	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	119890	89319298	101834978	3936	7552											
HERC5	51191	broad.mit.edu	37	4	89410380	89410380	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:89410380G>A	ENST00000264350.3	+	16	2179	c.2026G>A	c.(2026-2028)Gct>Act	p.A676T	HERC5_ENST00000508159.1_Missense_Mutation_p.A314T	NM_016323.3	NP_057407.2	Q9UII4	HERC5_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 5	676					innate immune response|ISG15-protein conjugation|negative regulation of type I interferon production|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cyclin-dependent protein kinase activity|regulation of defense response to virus|response to virus	cytosol|perinuclear region of cytoplasm	ISG15 ligase activity|protein binding|ubiquitin-protein ligase activity			NS(2)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|liver(2)|lung(17)|ovary(4)|prostate(1)|skin(4)	53		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000209)		GTCTGAATTCGCTTTGAGGCC	0.368													48	72					0	0	1	0	0	A	89410380	G	A	89410380	3	1	81	1	0	0	0	0	1	0	0	0	7102	1087	38	1	2088	1	HERC5	4	89410380	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	91082	89410380	101743896	3937	7553											
HERC5	51191	broad.mit.edu	37	4	89425652	89425652	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:89425652C>T	ENST00000264350.3	+	22	2926	c.2773C>T	c.(2773-2775)Cgt>Tgt	p.R925C	HERC5_ENST00000508159.1_Missense_Mutation_p.R563C	NM_016323.3	NP_057407.2	Q9UII4	HERC5_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 5	925	HECT.				innate immune response|ISG15-protein conjugation|negative regulation of type I interferon production|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cyclin-dependent protein kinase activity|regulation of defense response to virus|response to virus	cytosol|perinuclear region of cytoplasm	ISG15 ligase activity|protein binding|ubiquitin-protein ligase activity			NS(2)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|liver(2)|lung(17)|ovary(4)|prostate(1)|skin(4)	53		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000209)		CTAGAATGCACGTTATGAACC	0.323													16	28					0	0	1	0	0	T	89425652	C	T	89425652	3	4	81	1	0	0	0	0	1	0	0	0	7102	536	19	1	2859	1	HERC5	4	89425652	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	15272	89425652	101728624	3938	7554											
HERC3	8916	broad.mit.edu	37	4	89577217	89577217	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:89577217T>C	ENST00000407637.1	+	9	1266	c.1100T>C	c.(1099-1101)gTa>gCa	p.V367A	HERC3_ENST00000402738.1_Intron|HERC3_ENST00000264345.3_Intron			Q15034	HERC3_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 3	0					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasmic membrane-bounded vesicle	ubiquitin-protein ligase activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|prostate(2)|skin(2)	45				OV - Ovarian serous cystadenocarcinoma(123;0.000319)		AATTTAAAGGTATTTTAAGTG	0.383													11	20					0	0	1	0	0	C	89577217	T	C	89577217	3	2	81	1	0	0	0	0	1	0	0	0	7100	1653	57	3		3	HERC3	4	89577217	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	151565	89577217	101577059	3939	7555											
HERC3	8916	broad.mit.edu	37	4	89599166	89599166	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:89599166G>A	ENST00000402738.1	+	19	2316	c.2077G>A	c.(2077-2079)Gag>Aag	p.E693K	HERC3_ENST00000543130.1_Missense_Mutation_p.E137K|HERC3_ENST00000264345.3_Missense_Mutation_p.E693K	NM_001271602.1|NM_014606.1	NP_001258531.1|NP_055421.1	Q15034	HERC3_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 3	693					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasmic membrane-bounded vesicle	ubiquitin-protein ligase activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|prostate(2)|skin(2)	45				OV - Ovarian serous cystadenocarcinoma(123;0.000319)		TCTCACCCTGGAGCCTCTGCT	0.512													22	33					0	0	1	0	0	A	89599166	G	A	89599166	3	1	81	1	0	0	0	0	1	0	0	0	7100	1175	41	2	2143	2	HERC3	4	89599166	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	21949	89599166	101555110	3940	7556											
FAM13A	10144	broad.mit.edu	37	4	89827531	89827531	+	Splice_Site	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:89827531T>C	ENST00000264344.5	-	6	1049	c.842A>G	c.(841-843)aAg>aGg	p.K281R	FAM13A_ENST00000511976.1_Splice_Site_p.K72R|FAM13A_ENST00000502459.1_5'UTR	NM_014883.3	NP_055698.2	O94988	FA13A_HUMAN	family with sequence similarity 13, member A	281					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	55						ATAGTTTACCTTGGTTTTTGG	0.358													20	451					0	0	1	0	0	C	89827531	T	C	89827531	5	2	81	1	0	0	0	0	0	0	1	0	5482	1623	56	3	2338	3	FAM13A	4	89827531	Splice_Site	SNP	T	TCGA-DU-6392-01A-11D-1705-08	228365	89827531	101326745	3941	7557											
GPRIN3	285513	broad.mit.edu	37	4	90169635	90169635	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:90169635G>T	ENST00000609438.1	-	2	2145	c.1627C>A	c.(1627-1629)Cct>Act	p.P543T	GPRIN3_ENST00000333209.4_Missense_Mutation_p.P543T	NM_198281.2	NP_938022.2	Q6ZVF9	GRIN3_HUMAN	GPRIN family member 3											breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|prostate(2)|skin(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)		ACTACCTGAGGAGATGCAGGC	0.453													4	53					0.00024832	0.000269806	1	1	0	T	90169635	G	T	90169635	3	4	81	1	0	0	0	0	1	0	0	0	6772	1174	41	5	707	5	GPRIN3	4	90169635	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	342104	90169635	100984641	3942	7558											
GPRIN3	285513	broad.mit.edu	37	4	90170998	90170998	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:90170998C>T	ENST00000609438.1	-	2	782	c.264G>A	c.(262-264)caG>caA	p.Q88Q	GPRIN3_ENST00000333209.4_Silent_p.Q88Q	NM_198281.2	NP_938022.2	Q6ZVF9	GRIN3_HUMAN	GPRIN family member 3											breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|prostate(2)|skin(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)		CAGGTGCTTTCTGCACTTCAT	0.582													5	84					0	0	1	0	0	T	90170998	C	T	90170998	2	4	81	1	0	0	0	0	0	0	0	1	6772	912	32	2		2	GPRIN3	4	90170998	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1363	90170998	100983278	3943	7559											
MMRN1	22915	broad.mit.edu	37	4	90833185	90833185	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:90833185G>A	ENST00000394980.1	+	4	1153	c.834G>A	c.(832-834)ccG>ccA	p.P278P	MMRN1_ENST00000264790.2_Silent_p.P278P|MMRN1_ENST00000508372.1_Silent_p.P20P|MMRN1_ENST00000394981.1_Silent_p.P244P			Q13201	MMRN1_HUMAN	multimerin 1	278	EMI.				cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		ACAGTGGGCCGAAATGTCAAC	0.363													14	27					0	0	1	0	0	A	90833185	G	A	90833185	2	1	81	1	0	0	0	0	0	0	0	1	9719	1045	37	1		1	MMRN1	4	90833185	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	662187	90833185	100321091	3944	7560											
GRID2	2895	broad.mit.edu	37	4	94032058	94032058	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:94032058C>T	ENST00000282020.4	+	4	947	c.689C>T	c.(688-690)gCg>gTg	p.A230V	GRID2_ENST00000510992.1_Missense_Mutation_p.A135V|GRID2_ENST00000505687.1_3'UTR	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	230					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	CTTAGGCGAGCGATCCTTGTT	0.388													32	77					0	0	1	0	0	T	94032058	C	T	94032058	3	4	81	1	0	0	0	0	1	0	0	0	6813	768	27	1	703	1	GRID2	4	94032058	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3198873	94032058	97122218	3945	7561											
GRID2	2895	broad.mit.edu	37	4	94693399	94693399	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:94693399C>T	ENST00000282020.4	+	16	3032	c.2774C>T	c.(2773-2775)aCt>aTt	p.T925I	GRID2_ENST00000510992.1_Missense_Mutation_p.T830I	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	925	Interaction with AP4M1 (By similarity).				glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	TTCAGGAACACTCATATTACC	0.458													28	52					0	0	1	0	0	T	94693399	C	T	94693399	3	4	81	1	0	0	0	0	1	0	0	0	6813	565	20	2	2836	2	GRID2	4	94693399	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	661341	94693399	96460877	3946	7562											
GRID2	2895	broad.mit.edu	37	4	94693538	94693538	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:94693538T>C	ENST00000282020.4	+	16	3171	c.2913T>C	c.(2911-2913)aaT>aaC	p.N971N	GRID2_ENST00000510992.1_Silent_p.N876N	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	971	Interaction with AP4M1 (By similarity).				glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	GGGCACCTAATGGGGGCTTTT	0.498													5	43					0	0	1	0	0	C	94693538	T	C	94693538	2	2	81	1	0	0	0	0	0	0	0	1	6813	1461	51	3		3	GRID2	4	94693538	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	139	94693538	96460738	3947	7563											
SMARCAD1	56916	broad.mit.edu	37	4	95147396	95147396	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:95147396G>A	ENST00000354268.4	+	3	390	c.317G>A	c.(316-318)tGc>tAc	p.C106Y	SMARCAD1_ENST00000457823.2_Missense_Mutation_p.C106Y			Q9H4L7	SMRCD_HUMAN	SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1	106					chromatin modification|nucleotide metabolic process|positive regulation of transcription, DNA-dependent|protein homooligomerization|regulation of DNA recombination	nuclear matrix	ATP binding|DNA binding|helicase activity			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|liver(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44				OV - Ovarian serous cystadenocarcinoma(123;4.33e-08)		TCCCCAAATTGCTCCAATACA	0.303													42	81					0	0	1	0	0	A	95147396	G	A	95147396	3	1	81	1	0	0	0	0	1	0	0	0	14826	1319	46	2	323	2	SMARCAD1	4	95147396	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	453858	95147396	96006880	3948	7564											
SMARCAD1	56916	broad.mit.edu	37	4	95173878	95173878	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:95173878T>C	ENST00000354268.4	+	9	1074	c.1001T>C	c.(1000-1002)aTg>aCg	p.M334T	SMARCAD1_ENST00000457823.2_Missense_Mutation_p.M334T			Q9H4L7	SMRCD_HUMAN	SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1	334					chromatin modification|nucleotide metabolic process|positive regulation of transcription, DNA-dependent|protein homooligomerization|regulation of DNA recombination	nuclear matrix	ATP binding|DNA binding|helicase activity			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|liver(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44				OV - Ovarian serous cystadenocarcinoma(123;4.33e-08)		AAATTTTCAATGAAAGCACAA	0.308													6	16					0	0	1	0	0	C	95173878	T	C	95173878	3	2	81	1	0	0	0	0	1	0	0	0	14826	1464	51	3	1031	3	SMARCAD1	4	95173878	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	26482	95173878	95980398	3949	7565											
SMARCAD1	56916	broad.mit.edu	37	4	95185933	95185933	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:95185933G>A	ENST00000354268.4	+	10	1430	c.1357G>A	c.(1357-1359)Gat>Aat	p.D453N	SMARCAD1_ENST00000457823.2_Missense_Mutation_p.D453N|SMARCAD1_ENST00000509418.1_Missense_Mutation_p.D23N			Q9H4L7	SMRCD_HUMAN	SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1	453					chromatin modification|nucleotide metabolic process|positive regulation of transcription, DNA-dependent|protein homooligomerization|regulation of DNA recombination	nuclear matrix	ATP binding|DNA binding|helicase activity			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|liver(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44				OV - Ovarian serous cystadenocarcinoma(123;4.33e-08)		CCAAGAAAGAGATGTAGTTAT	0.323													32	38					0	0	1	0	0	A	95185933	G	A	95185933	3	1	81	1	0	0	0	0	1	0	0	0	14826	942	33	2	1391	2	SMARCAD1	4	95185933	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	12055	95185933	95968343	3950	7566											
SMARCAD1	56916	broad.mit.edu	37	4	95210632	95210632	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:95210632G>T	ENST00000354268.4	+	24	3101	c.3028G>T	c.(3028-3030)Ggg>Tgg	p.G1010W	SMARCAD1_ENST00000457823.2_Missense_Mutation_p.G1012W|SMARCAD1_ENST00000509418.1_Missense_Mutation_p.G580W			Q9H4L7	SMRCD_HUMAN	SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1	1010	Helicase C-terminal.				chromatin modification|nucleotide metabolic process|positive regulation of transcription, DNA-dependent|protein homooligomerization|regulation of DNA recombination	nuclear matrix	ATP binding|DNA binding|helicase activity	p.G1010W(1)		breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|liver(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44				OV - Ovarian serous cystadenocarcinoma(123;4.33e-08)		AGGTGATGAAGGGAGTATGCC	0.313													9	126					3.09899e-07	3.60815e-07	1	1	0	T	95210632	G	T	95210632	3	4	81	1	0	0	0	0	1	0	0	0	14826	1000	35	4	3124	4	SMARCAD1	4	95210632	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	24699	95210632	95943644	3951	7567											
HPGDS	27306	broad.mit.edu	37	4	95255669	95255669	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:95255669C>T	ENST00000295256.5	-	2	202	c.112G>A	c.(112-114)Gac>Aac	p.D38N	HPGDS_ENST00000514774.1_5'UTR	NM_014485.2	NP_055300.1	O60760	HPGDS_HUMAN	hematopoietic prostaglandin D synthase	38	GST N-terminal.				locomotory behavior|prostaglandin biosynthetic process|signal transduction	cytoplasm|nucleus	calcium ion binding|glutathione transferase activity|magnesium ion binding|prostaglandin-D synthase activity|protein homodimerization activity			breast(1)|cervix(1)|lung(3)|ovary(1)|urinary_tract(1)	7					Glutathione(DB00143)	TCAGGCCAGTCAGCTTGTTCT	0.318													24	38					0	0	1	0	0	T	95255669	C	T	95255669	3	4	81	1	0	0	0	0	1	0	0	0	7376	826	29	2	507	2	HPGDS	4	95255669	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	45037	95255669	95898607	3952	7568											
UNC5C	8633	broad.mit.edu	37	4	96222898	96222898	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:96222898G>A	ENST00000453304.1	-	3	697	c.349C>T	c.(349-351)Ctc>Ttc	p.L117F	UNC5C_ENST00000504962.1_Missense_Mutation_p.L117F|UNC5C_ENST00000506749.1_Missense_Mutation_p.L117F	NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	117	Ig-like.				apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		CGGACAATGAGACCTGACAAG	0.433													4	14					0	0	1	0	0	A	96222898	G	A	96222898	3	1	81	1	0	0	0	0	1	0	0	0	17053	942	33	2	2502	2	UNC5C	4	96222898	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	967229	96222898	94931378	3953	7569											
PDHA2	5161	broad.mit.edu	37	4	96761689	96761689	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:96761689C>T	ENST00000295266.4	+	1	451	c.388C>T	c.(388-390)Cga>Tga	p.R130*		NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 2	130					glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	NADH(DB00157)	ACTTTCTGTCCGATCCATTCT	0.512													16	50					0	0	1	0	0	T	96761689	C	T	96761689	4	4	81	1	0	0	0	0	0	1	0	0	11712	644	23	1	390	1	PDHA2	4	96761689	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	538791	96761689	94392587	3954	7570											
PDHA2	5161	broad.mit.edu	37	4	96761711	96761711	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:96761711C>T	ENST00000295266.4	+	1	473	c.410C>T	c.(409-411)aCg>aTg	p.T137M		NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 2	137					glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity	p.T137M(1)		NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	NADH(DB00157)	GCAGAGCTGACGGGAAGAAGA	0.527													23	47					0	0	1	0	0	T	96761711	C	T	96761711	3	4	81	1	0	0	0	0	1	0	0	0	11712	536	19	1	412	1	PDHA2	4	96761711	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	22	96761711	94392565	3955	7571											
TSPAN5	10098	broad.mit.edu	37	4	99403289	99403289	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:99403289A>G	ENST00000305798.3	-	4	719	c.317T>C	c.(316-318)cTc>cCc	p.L106P	TSPAN5_ENST00000505184.1_Missense_Mutation_p.L35P|TSPAN5_ENST00000509168.1_5'UTR	NM_005723.3	NP_005714.2	P62079	TSN5_HUMAN	tetraspanin 5	106						integral to membrane				kidney(2)|large_intestine(6)|lung(5)|upper_aerodigestive_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(123;1.89e-07)		TCCGGCAGTGAGCTCCAGGAA	0.363													5	70					0	0	1	0	0	G	99403289	A	G	99403289	3	3	81	1	0	0	0	0	1	0	0	0	16711	304	11	3	509	3	TSPAN5	4	99403289	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	2641578	99403289	91750987	3956	7572											
EIF4E	1977	broad.mit.edu	37	4	99812406	99812406	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:99812406G>T	ENST00000450253.2	-	3	1727	c.203C>A	c.(202-204)aCt>aAt	p.T68N	EIF4E_ENST00000280892.6_Missense_Mutation_p.T88N|EIF4E_ENST00000504432.1_Missense_Mutation_p.T96N|EIF4E_ENST00000505992.1_Missense_Mutation_p.T68N	NM_001968.3	NP_001959.1	P06730	IF4E_HUMAN	eukaryotic translation initiation factor 4E	68					G1/S transition of mitotic cell cycle|insulin receptor signaling pathway|interspecies interaction between organisms|mRNA export from nucleus|nuclear-transcribed mRNA poly(A) tail shortening|positive regulation of mitotic cell cycle|regulation of translation	cytoplasmic mRNA processing body|cytosol|eukaryotic translation initiation factor 4F complex|mRNA cap binding complex|RNA-induced silencing complex	protein binding|RNA cap binding|translation initiation factor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)	13				OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)|LUSC - Lung squamous cell carcinoma(721;0.00227)		GTCTTCAACAGTATCAAACTT	0.318													23	31					1.77063e-15	2.25974e-15	1	1	0	T	99812406	G	T	99812406	3	4	81	1	0	0	0	0	1	0	0	0	5056	1029	36	4	567	4	EIF4E	4	99812406	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	409117	99812406	91341870	3957	7573											
ADH5	128	broad.mit.edu	37	4	100002577	100002577	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:100002577G>T	ENST00000296412.8	-	4	333	c.283C>A	c.(283-285)Cca>Aca	p.P95T	ADH5_ENST00000512991.1_5'UTR	NM_000671.3	NP_000662.3	P11766	ADHX_HUMAN	alcohol dehydrogenase 5 (class III), chi polypeptide	95					ethanol oxidation|response to redox state		alcohol dehydrogenase (NAD) activity|electron carrier activity|fatty acid binding|formaldehyde dehydrogenase activity|S-(hydroxymethyl)glutathione dehydrogenase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)	13				OV - Ovarian serous cystadenocarcinoma(123;2.5e-07)	NADH(DB00157)	CCACACTGTGGGATGTAAAGT	0.358													6	12					0.000274275	0.000297259	1	1	0	T	100002577	G	T	100002577	3	4	81	1	0	0	0	0	1	0	0	0	310	1232	43	5	865	5	ADH5	4	100002577	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	190171	100002577	91151699	3958	7574											
ADH6	130	broad.mit.edu	37	4	100129858	100129858	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:100129858G>T	ENST00000394897.1	-	6	877	c.795C>A	c.(793-795)ttC>ttA	p.F265L	ADH6_ENST00000237653.7_Missense_Mutation_p.F265L|ADH6_ENST00000504257.1_5'UTR|ADH6_ENST00000407820.2_Missense_Mutation_p.F56L|RP11-696N14.1_ENST00000506160.1_RNA|RP11-696N14.1_ENST00000506454.1_RNA|ADH6_ENST00000394899.2_Missense_Mutation_p.F265L|RP11-696N14.1_ENST00000500358.2_RNA			P28332	ADH6_HUMAN	alcohol dehydrogenase 6 (class V)	265					ethanol oxidation|response to ethanol|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|electron carrier activity|zinc ion binding			breast(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)	20				OV - Ovarian serous cystadenocarcinoma(123;3.58e-08)	Abacavir(DB01048)|NADH(DB00157)	CCTCAAAGCAGAAGTCTATAC	0.398													106	167					1.37401e-58	1.85122e-58	1	1	0	T	100129858	G	T	100129858	3	4	81	1	0	0	0	0	1	0	0	0	311	933	33	4	352	4	ADH6	4	100129858	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	127281	100129858	91024418	3959	7575											
ADH6	130	broad.mit.edu	37	4	100131284	100131284	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:100131284G>T	ENST00000394897.1	-	5	604	c.522C>A	c.(520-522)agC>agA	p.S174R	ADH6_ENST00000237653.7_Missense_Mutation_p.S174R|ADH6_ENST00000504257.1_5'UTR|ADH6_ENST00000407820.2_Intron|RP11-696N14.1_ENST00000506160.1_RNA|RP11-696N14.1_ENST00000506454.1_RNA|ADH6_ENST00000394899.2_Missense_Mutation_p.S174R|RP11-696N14.1_ENST00000500358.2_RNA			P28332	ADH6_HUMAN	alcohol dehydrogenase 6 (class V)	174					ethanol oxidation|response to ethanol|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|electron carrier activity|zinc ion binding			breast(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)	20				OV - Ovarian serous cystadenocarcinoma(123;3.58e-08)	Abacavir(DB01048)|NADH(DB00157)	AAAAGCCACAGCTAATTAGGC	0.433													23	37					1.36565e-18	1.77349e-18	1	1	0	T	100131284	G	T	100131284	3	4	81	1	0	0	0	0	1	0	0	0	311	962	34	4	629	4	ADH6	4	100131284	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1426	100131284	91022992	3960	7576											
ADH6	130	broad.mit.edu	37	4	100131373	100131373	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:100131373T>A	ENST00000394897.1	-	5	515	c.433A>T	c.(433-435)Agc>Tgc	p.S145C	ADH6_ENST00000237653.7_Missense_Mutation_p.S145C|ADH6_ENST00000504257.1_5'UTR|ADH6_ENST00000407820.2_Intron|RP11-696N14.1_ENST00000506160.1_RNA|RP11-696N14.1_ENST00000506454.1_RNA|ADH6_ENST00000394899.2_Missense_Mutation_p.S145C|RP11-696N14.1_ENST00000500358.2_RNA			P28332	ADH6_HUMAN	alcohol dehydrogenase 6 (class V)	145					ethanol oxidation|response to ethanol|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|electron carrier activity|zinc ion binding			breast(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)	20				OV - Ovarian serous cystadenocarcinoma(123;3.58e-08)	Abacavir(DB01048)|NADH(DB00157)	CAGAAGGTGCTGGTATTACCA	0.398													6	72					0	0	1	0	0	A	100131373	T	A	100131373	3	1	81	1	0	0	0	0	1	0	0	0	311	1580	55	5	718	5	ADH6	4	100131373	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	89	100131373	91022903	3961	7577											
ADH7	131	broad.mit.edu	37	4	100349736	100349736	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:100349736T>C	ENST00000437033.2	-	3	675	c.172A>G	c.(172-174)Atg>Gtg	p.M58V	ADH7_ENST00000476959.1_Missense_Mutation_p.M78V|ADH7_ENST00000209665.4_Missense_Mutation_p.M70V|ADH7_ENST00000482593.1_Start_Codon_SNP_p.M1V			P40394	ADH7_HUMAN	alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide	70					ethanol oxidation|fatty acid omega-oxidation|response to bacterium|response to ethanol|xenobiotic metabolic process	cytosol|soluble fraction	alcohol dehydrogenase activity, zinc-dependent|aldehyde oxidase activity|ethanol binding|receptor antagonist activity|retinol binding|retinol dehydrogenase activity			breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)	19				OV - Ovarian serous cystadenocarcinoma(123;1.75e-08)	NADH(DB00157)	TTGGACACCATTGTTCCTTTT	0.433													16	148					0	0	1	0	0	C	100349736	T	C	100349736	3	2	81	1	0	0	0	0	1	0	0	0	312	1493	52	3	980	3	ADH7	4	100349736	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	218363	100349736	90804540	3962	7578											
C4orf17	84103	broad.mit.edu	37	4	100445677	100445677	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:100445677G>T	ENST00000514652.1	+	4	691		c.e4-1		C4orf17_ENST00000326581.4_Splice_Site|C4orf17_ENST00000503257.1_Splice_Site			Q53FE4	CD017_HUMAN	chromosome 4 open reading frame 17											central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|urinary_tract(3)	18				OV - Ovarian serous cystadenocarcinoma(123;2.08e-08)		TTTTATTTCAGAGCCCAGTAG	0.289													13	29					0.000151284	0.000165917	1	1	0	T	100445677	G	T	100445677	5	4	81	1	0	0	0	0	0	0	1	0	2267	956	33	4	347	4	C4orf17	4	100445677	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	95941	100445677	90708599	3963	7579											
C4orf17	84103	broad.mit.edu	37	4	100451060	100451060	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:100451060A>G	ENST00000514652.1	+	5	845	c.491A>G	c.(490-492)aAt>aGt	p.N164S	C4orf17_ENST00000326581.4_Missense_Mutation_p.N164S|C4orf17_ENST00000503257.1_3'UTR			Q53FE4	CD017_HUMAN	chromosome 4 open reading frame 17	164										central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|urinary_tract(3)	18				OV - Ovarian serous cystadenocarcinoma(123;2.08e-08)		AGTACCAAGAATGATGTGAAA	0.393													8	44					0	0	1	0	0	G	100451060	A	G	100451060	3	3	81	1	0	0	0	0	1	0	0	0	2267	101	4	3	505	3	C4orf17	4	100451060	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	5383	100451060	90703216	3964	7580											
MTTP	4547	broad.mit.edu	37	4	100543915	100543915	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:100543915A>G	ENST00000457717.1	+	19	2851	c.2595A>G	c.(2593-2595)ggA>ggG	p.G865G	RP11-766F14.1_ENST00000508578.1_RNA|MTTP_ENST00000265517.5_Silent_p.G865G|MTTP_ENST00000511045.1_Silent_p.G892G	NM_000253.2	NP_000244.2	P55157	MTP_HUMAN	microsomal triglyceride transfer protein	865					lipid metabolic process|lipoprotein metabolic process	endoplasmic reticulum lumen	lipid binding|lipid transporter activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)	TATTAGCAGGATGTGAATTCC	0.458													11	103					0	0	1	0	0	G	100543915	A	G	100543915	2	3	81	1	0	0	0	0	0	0	0	1	10012	320	12	3		3	MTTP	4	100543915	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	92855	100543915	90610361	3965	7581											
PPP3CA	5530	broad.mit.edu	37	4	101947077	101947077	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:101947077G>T	ENST00000394854.3	-	14	2194	c.1511C>A	c.(1510-1512)aCc>aAc	p.T504N	PPP3CA_ENST00000323055.6_Missense_Mutation_p.T452N|PPP3CA_ENST00000394853.4_Missense_Mutation_p.T494N|PPP3CA_ENST00000507176.1_Missense_Mutation_p.T406N|PPP3CA_ENST00000512215.1_Missense_Mutation_p.T272N|PPP3CA_ENST00000523694.2_Missense_Mutation_p.T437N	NM_000944.4	NP_000935.1	Q08209	PP2BA_HUMAN	protein phosphatase 3, catalytic subunit, alpha isozyme	504					protein dephosphorylation	calcineurin complex|cytosol|nucleus	calcium ion binding|calmodulin binding			breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	20				OV - Ovarian serous cystadenocarcinoma(123;6.79e-08)		AGTCTCTGAGGTGAGAGCCTT	0.448													10	130					1.58986e-06	1.82794e-06	1	1	0	T	101947077	G	T	101947077	3	4	81	1	0	0	0	0	1	0	0	0	12446	1261	44	5	58	5	PPP3CA	4	101947077	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1403162	101947077	89207199	3966	7582											
NFKB1	4790	broad.mit.edu	37	4	103528372	103528372	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:103528372G>A	ENST00000226574.4	+	18	2487	c.2020G>A	c.(2020-2022)Gct>Act	p.A674T	NFKB1_ENST00000394820.4_Missense_Mutation_p.A673T|NFKB1_ENST00000600343.1_Missense_Mutation_p.A493T|NFKB1_ENST00000505458.1_Missense_Mutation_p.A673T	NM_001165412.1|NM_003998.3	NP_001158884.1|NP_003989.2	P19838	NFKB1_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells 1	673	Interaction with CFLAR.				anti-apoptosis|apoptosis|cellular response to mechanical stimulus|inflammatory response|innate immune response|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of calcidiol 1-monooxygenase activity|nerve growth factor receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|Toll signaling pathway|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	cytosol|I-kappaB/NF-kappaB complex|mitochondrion|nucleoplasm	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			biliary_tract(1)|breast(4)|endometrium(2)|large_intestine(6)|lung(7)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	27		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.59e-08)	Dexamethasone(DB01234)|Pranlukast(DB01411)|Thalidomide(DB01041)	GCTGGTGGCCGCTGGGGCTGA	0.577													5	70					0	0	1	0	0	A	103528372	G	A	103528372	3	1	81	1	0	0	0	0	1	0	0	0	10422	1087	38	1	2086	1	NFKB1	4	103528372	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1581295	103528372	87625904	3967	7583											
NFKB1	4790	broad.mit.edu	37	4	103528835	103528835	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:103528835C>T	ENST00000226574.4	+	19	2621	c.2154C>T	c.(2152-2154)taC>taT	p.Y718Y	NFKB1_ENST00000394820.4_Silent_p.Y717Y|NFKB1_ENST00000600343.1_Silent_p.Y537Y|NFKB1_ENST00000505458.1_Silent_p.Y717Y	NM_001165412.1|NM_003998.3	NP_001158884.1|NP_003989.2	P19838	NFKB1_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells 1	717	Interaction with CFLAR.				anti-apoptosis|apoptosis|cellular response to mechanical stimulus|inflammatory response|innate immune response|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of calcidiol 1-monooxygenase activity|nerve growth factor receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|Toll signaling pathway|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	cytosol|I-kappaB/NF-kappaB complex|mitochondrion|nucleoplasm	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			biliary_tract(1)|breast(4)|endometrium(2)|large_intestine(6)|lung(7)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	27		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.59e-08)	Dexamethasone(DB01234)|Pranlukast(DB01411)|Thalidomide(DB01041)	GTACTACCTACGATGGAACCA	0.532													49	77					0	0	1	0	0	T	103528835	C	T	103528835	2	4	81	1	0	0	0	0	0	0	0	1	10422	547	19	1		1	NFKB1	4	103528835	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	463	103528835	87625441	3968	7584											
NFKB1	4790	broad.mit.edu	37	4	103537625	103537625	+	Silent	SNP	C	C	T	rs113109405		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:103537625C>T	ENST00000226574.4	+	24	3251	c.2784C>T	c.(2782-2784)agC>agT	p.S928S	NFKB1_ENST00000394820.4_Silent_p.S927S|NFKB1_ENST00000600343.1_Silent_p.S747S|NFKB1_ENST00000505458.1_Silent_p.S927S	NM_001165412.1|NM_003998.3	NP_001158884.1|NP_003989.2	P19838	NFKB1_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells 1	927	Interaction with CFLAR.				anti-apoptosis|apoptosis|cellular response to mechanical stimulus|inflammatory response|innate immune response|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of calcidiol 1-monooxygenase activity|nerve growth factor receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|Toll signaling pathway|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	cytosol|I-kappaB/NF-kappaB complex|mitochondrion|nucleoplasm	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			biliary_tract(1)|breast(4)|endometrium(2)|large_intestine(6)|lung(7)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	27		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.59e-08)	Dexamethasone(DB01234)|Pranlukast(DB01411)|Thalidomide(DB01041)	TCTGCGACAGCGGCGTGGAGA	0.532													23	48					0	0	1	0	0	T	103537625	C	T	103537625	2	4	81	1	0	0	0	0	0	0	0	1	10422	767	27	1		1	NFKB1	4	103537625	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	8790	103537625	87616651	3969	7585											
BDH2	56898	broad.mit.edu	37	4	104017402	104017402	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:104017402G>A	ENST00000296424.4	-	2	130	c.10C>T	c.(10-12)Ctt>Ttt	p.L4F		NM_020139.3	NP_064524.3	Q9BUT1	BDH2_HUMAN	3-hydroxybutyrate dehydrogenase, type 2	4					fatty acid beta-oxidation|heme metabolic process|iron ion homeostasis|siderophore biosynthetic process	cytoplasm	3-hydroxybutyrate dehydrogenase activity|NAD binding|oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|urinary_tract(1)	10		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.02e-08)		TTCCCATCAAGTCGACCCATA	0.423													4	9					0	0	1	0	0	A	104017402	G	A	104017402	3	1	81	1	0	0	0	0	1	0	0	0	1389	1029	36	2	763	2	BDH2	4	104017402	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	479777	104017402	87136874	3970	7586											
CENPE	1062	broad.mit.edu	37	4	104053958	104053959	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:104053958_104053959insA	ENST00000265148.3	-	42	6904_6905	c.6815_6816insT	c.(6814-6816)ttgfs	p.L2272fs	CENPE_ENST00000380026.3_Frame_Shift_Ins_p.L2151fs	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	2272	Kinetochore-binding domain.				blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		ACCACTCTTCCAAAAACTGTGT	0.312													26	68	---	---	---	---						A	104053959	-	A	104053958	7	5	81	1	0	1	1	0	0	0	0	0	3252	593	21	0	1321	0	CENPE	4	104053958	Frame_Shift_Ins	INS	-	TCGA-DU-6392-01A-11D-1705-08	36556	104053958	87100318	3971	7587											
CENPE	1062	broad.mit.edu	37	4	104080348	104080348	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:104080348G>A	ENST00000265148.3	-	22	2509	c.2420C>T	c.(2419-2421)aCt>aTt	p.T807I	CENPE_ENST00000380026.3_Missense_Mutation_p.T782I	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	807					blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		CGACTGTGTAGTTGCTAGGTC	0.333													33	45					0	0	1	0	0	A	104080348	G	A	104080348	3	1	81	1	0	0	0	0	1	0	0	0	3252	1029	36	2	5797	2	CENPE	4	104080348	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	26390	104080348	87073928	3972	7588											
TET2	54790	broad.mit.edu	37	4	106155088	106155088	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:106155088G>A	ENST00000513237.1	+	3	849	c.52G>A	c.(52-54)Gaa>Aaa	p.E18K	TET2_ENST00000413648.2_5'UTR|TET2_ENST00000540549.1_5'UTR|TET2_ENST00000380013.4_5'UTR|TET2_ENST00000305737.2_5'UTR|TET2_ENST00000394764.1_5'UTR|TET2_ENST00000545826.1_5'UTR			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	0					cell cycle|myeloid cell differentiation		metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		GGATGGCCCCGAAGCAAGCCT	0.413			"Mis N, F"		MDS								6	17					0	0	1	0	0	A	106155088	G	A	106155088	3	1	81	1	0	0	0	0	1	0	0	0	15829	1073	37	1		1	TET2	4	106155088	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2074740	106155088	84999188	3973	7589											
TET2	54790	broad.mit.edu	37	4	106155691	106155691	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:106155691G>A	ENST00000513237.1	+	3	1452	c.655G>A	c.(655-657)Gta>Ata	p.V219I	TET2_ENST00000413648.2_Missense_Mutation_p.V198I|TET2_ENST00000540549.1_Missense_Mutation_p.V198I|TET2_ENST00000380013.4_Missense_Mutation_p.V198I|TET2_ENST00000305737.2_Missense_Mutation_p.V198I|TET2_ENST00000394764.1_Missense_Mutation_p.V198I|TET2_ENST00000545826.1_Missense_Mutation_p.V198I			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	198					cell cycle|myeloid cell differentiation		metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		CAAGAACATTGTATTACTTAA	0.428			"Mis N, F"		MDS								11	31					0	0	1	0	0	A	106155691	G	A	106155691	3	1	81	1	0	0	0	0	1	0	0	0	15829	1377	48	2	594	2	TET2	4	106155691	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	603	106155691	84998585	3974	7590											
TET2	54790	broad.mit.edu	37	4	106158447	106158447	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:106158447delA	ENST00000513237.1	+	3	4208	c.3411delA	c.(3409-3411)atafs	p.I1137fs	TET2_ENST00000380013.4_Frame_Shift_Del_p.I1116fs|TET2_ENST00000413648.2_Frame_Shift_Del_p.I1116fs|TET2_ENST00000394764.1_Frame_Shift_Del_p.I1116fs|TET2_ENST00000545826.1_Frame_Shift_Del_p.I1116fs|TET2_ENST00000305737.2_Frame_Shift_Del_p.I1116fs|TET2_ENST00000540549.1_Frame_Shift_Del_p.I1116fs			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	1116					cell cycle|myeloid cell differentiation		metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		ATACTCCTATAAAAAATTTAT	0.363			"Mis N, F"		MDS								40	56	---	---	---	---						-	106158447	A	-	106158447	7	5	81	1	0	1	0	1	0	0	0	0	15829	352	13	0	3350	0	TET2	4	106158447	Frame_Shift_Del	DEL	A	TCGA-DU-6392-01A-11D-1705-08	2756	106158447	84995829	3975	7591											
GSTCD	79807	broad.mit.edu	37	4	106640343	106640343	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:106640343G>A	ENST00000515279.1	+	3	773	c.553G>A	c.(553-555)Gag>Aag	p.E185K	GSTCD_ENST00000394730.3_Missense_Mutation_p.E98K|GSTCD_ENST00000360505.5_Missense_Mutation_p.E185K|GSTCD_ENST00000515255.1_Intron|GSTCD_ENST00000394728.3_Missense_Mutation_p.E185K|GSTCD_ENST00000507281.1_Missense_Mutation_p.E98K			Q8NEC7	GSTCD_HUMAN	glutathione S-transferase, C-terminal domain containing	185	GST C-terminal.					cytoplasm	rRNA methyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|skin(1)	14		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.15e-07)|READ - Rectum adenocarcinoma(30;0.139)		AAAGCTTAGTGAGCCTGTTAG	0.453													50	81					0	0	1	0	0	A	106640343	G	A	106640343	3	1	81	1	0	0	0	0	1	0	0	0	6876	1291	45	2	559	2	GSTCD	4	106640343	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	481896	106640343	84513933	3976	7592											
GSTCD	79807	broad.mit.edu	37	4	106766643	106766643	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:106766643C>T	ENST00000515279.1	+	12	2031	c.1811C>T	c.(1810-1812)gCa>gTa	p.A604V	GSTCD_ENST00000394728.3_Missense_Mutation_p.A604V|GSTCD_ENST00000360505.5_Missense_Mutation_p.A604V|GSTCD_ENST00000394730.3_Missense_Mutation_p.A517V|GSTCD_ENST00000515255.1_3'UTR			Q8NEC7	GSTCD_HUMAN	glutathione S-transferase, C-terminal domain containing	604						cytoplasm	rRNA methyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|skin(1)	14		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.15e-07)|READ - Rectum adenocarcinoma(30;0.139)		GCAAGAGCTGCAGAAGAATGT	0.448													13	42					0	0	1	0	0	T	106766643	C	T	106766643	3	4	81	1	0	0	0	0	1	0	0	0	6876	710	25	2	1853	2	GSTCD	4	106766643	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	126300	106766643	84387633	3977	7593											
AIMP1	9255	broad.mit.edu	37	4	107253040	107253040	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:107253040G>T	ENST00000394701.4	+	5	716	c.675G>T	c.(673-675)caG>caT	p.Q225H	AIMP1_ENST00000442366.1_Splice_Site_p.Q201H|AIMP1_ENST00000358008.3_Splice_Site_p.Q201H	NM_001142416.1	NP_001135888.1	Q12904	AIMP1_HUMAN	aminoacyl tRNA synthetase complex-interacting multifunctional protein 1	201	tRNA-binding.				angiogenesis|apoptosis|cell adhesion|cell-cell signaling|chemotaxis|glucose metabolic process|inflammatory response|leukocyte migration|negative regulation of endothelial cell proliferation|signal transduction|tRNA aminoacylation for protein translation	aminoacyl-tRNA synthetase multienzyme complex|cytosol|endoplasmic reticulum|extracellular space|Golgi apparatus|nucleus|transport vesicle	cell surface binding|cytokine activity|protein homodimerization activity|tRNA binding			breast(1)|endometrium(2)|kidney(1)|lung(5)|skin(1)|urinary_tract(1)	11						CTCTTGAACAGGTAATCTGTA	0.393													43	84					2.19962e-31	2.93607e-31	1	1	0	T	107253040	G	T	107253040	5	4	81	1	0	0	0	0	0	0	1	0	430	1014	35	4	693	4	AIMP1	4	107253040	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	486397	107253040	83901236	3978	7594											
SGMS2	166929	broad.mit.edu	37	4	108829850	108829850	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:108829850G>A	ENST00000394684.4	+	6	1414	c.857G>A	c.(856-858)cGa>cAa	p.R286Q	SGMS2_ENST00000359079.4_Missense_Mutation_p.R286Q|SGMS2_ENST00000394686.3_Missense_Mutation_p.R286Q|RP11-286E11.1_ENST00000513071.1_RNA|RP11-286E11.1_ENST00000499098.1_RNA	NM_001136258.1	NP_001129730.1	Q8NHU3	SMS2_HUMAN	sphingomyelin synthase 2	286					sphingomyelin biosynthetic process	integral to Golgi membrane|integral to plasma membrane	ceramide cholinephosphotransferase activity|kinase activity|sphingomyelin synthase activity			central_nervous_system(1)|endometrium(2)|large_intestine(8)|liver(2)|lung(6)|prostate(1)	20				OV - Ovarian serous cystadenocarcinoma(123;2.95e-05)	Choline(DB00122)	ATCACAACACGACTGTTTTGG	0.423													49	62					0	0	1	0	0	A	108829850	G	A	108829850	3	1	81	1	0	0	0	0	1	0	0	0	14269	1058	37	1	871	1	SGMS2	4	108829850	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1576810	108829850	82324426	3979	7595											
SGMS2	166929	broad.mit.edu	37	4	108831512	108831512	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:108831512A>C	ENST00000394684.4	+	7	1458	c.901A>C	c.(901-903)Aag>Cag	p.K301Q	SGMS2_ENST00000359079.4_Missense_Mutation_p.K301Q|SGMS2_ENST00000394686.3_Missense_Mutation_p.K301Q|RP11-286E11.1_ENST00000513071.1_RNA|RP11-286E11.1_ENST00000499098.1_RNA	NM_001136258.1	NP_001129730.1	Q8NHU3	SMS2_HUMAN	sphingomyelin synthase 2	301					sphingomyelin biosynthetic process	integral to Golgi membrane|integral to plasma membrane	ceramide cholinephosphotransferase activity|kinase activity|sphingomyelin synthase activity			central_nervous_system(1)|endometrium(2)|large_intestine(8)|liver(2)|lung(6)|prostate(1)	20				OV - Ovarian serous cystadenocarcinoma(123;2.95e-05)	Choline(DB00122)	ACAGAACTTGAAGGTCTCTTC	0.338													22	38					0	0	1	0	0	C	108831512	A	C	108831512	3	2	81	1	0	0	0	0	1	0	0	0	14269	247	9	5	919	5	SGMS2	4	108831512	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	1662	108831512	82322764	3980	7596											
CYP2U1	113612	broad.mit.edu	37	4	108871448	108871448	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:108871448C>A	ENST00000332884.6	+	5	1779	c.1504C>A	c.(1504-1506)Cta>Ata	p.L502I	CYP2U1_ENST00000508453.1_Missense_Mutation_p.L293I|RP11-286E11.1_ENST00000513071.1_RNA	NM_183075.2	NP_898898.1	Q7Z449	CP2U1_HUMAN	cytochrome P450, family 2, subfamily U, polypeptide 1	502					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			breast(1)|large_intestine(2)|lung(4)|skin(2)|urinary_tract(1)	10		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000128)		GGAATTATTCCTAATGTTTGT	0.413													9	127					0.000442599	0.000477972	1	1	0	A	108871448	C	A	108871448	3	1	81	1	0	0	0	0	1	0	0	0	4198	680	24	4	1522	4	CYP2U1	4	108871448	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	39936	108871448	82282828	3981	7597											
LEF1	51176	broad.mit.edu	37	4	109084772	109084772	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:109084772G>A	ENST00000379951.2	-	3	1554	c.366C>T	c.(364-366)aaC>aaT	p.N122N	LEF1_ENST00000438313.2_Silent_p.N122N|LEF1_ENST00000265165.1_Silent_p.N122N|LEF1_ENST00000510624.1_Silent_p.N54N|LEF1_ENST00000512172.1_Silent_p.N54N	NM_001130713.2|NM_001130714.2	NP_001124185.1|NP_001124186.1	Q9UJU2	LEF1_HUMAN	lymphoid enhancer-binding factor 1	122	Pro-rich.				canonical Wnt receptor signaling pathway|cell chemotaxis|cellular response to interleukin-4|epithelial to mesenchymal transition|histone H3 acetylation|histone H4 acetylation|negative regulation of apoptosis in bone marrow|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell-cell adhesion|negative regulation of DNA binding|negative regulation of estrogen receptor binding|negative regulation of interleukin-13 production|negative regulation of interleukin-4 production|negative regulation of interleukin-5 production|negative regulation of transcription, DNA-dependent|neutrophil differentiation|osteoblast differentiation|palate development|positive regulation by host of viral transcription|positive regulation of cell cycle process|positive regulation of cell growth|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of cell proliferation in bone marrow|positive regulation of cell-cell adhesion|positive regulation of epithelial to mesenchymal transition|positive regulation of granulocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|T-helper 1 cell differentiation	cytoplasm|protein-DNA complex|transcription factor complex	armadillo repeat domain binding|beta-catenin binding|C2H2 zinc finger domain binding|caspase inhibitor activity|DNA bending activity|enhancer binding|estrogen receptor activity|estrogen receptor binding|gamma-catenin binding|histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1)	25				OV - Ovarian serous cystadenocarcinoma(123;0.000224)		TGTATGGGTCGTTATTCATAT	0.428													41	60					0	0	1	0	0	A	109084772	G	A	109084772	2	1	81	1	0	0	0	0	0	0	0	1	8753	1136	40	1		1	LEF1	4	109084772	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	213324	109084772	82069504	3982	7598											
COL25A1	84570	broad.mit.edu	37	4	109748331	109748331	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:109748331G>A	ENST00000399132.1	-	33	2254	c.1724C>T	c.(1723-1725)gCt>gTt	p.A575V	COL25A1_ENST00000399127.1_Missense_Mutation_p.A587V|COL25A1_ENST00000399126.1_Missense_Mutation_p.A575V	NM_198721.2	NP_942014.1	Q9BXS0	COPA1_HUMAN	collagen, type XXV, alpha 1	575	Collagen-like 7.					collagen|extracellular space	beta-amyloid binding|heparin binding			NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		CTCTCCCATAGCTCCTTTTTC	0.483													13	26					0	0	1	0	0	A	109748331	G	A	109748331	3	1	81	1	0	0	0	0	1	0	0	0	3707	971	34	2	348	2	COL25A1	4	109748331	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	663559	109748331	81405945	3983	7599											
SEC24B	10427	broad.mit.edu	37	4	110415857	110415857	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:110415857C>T	ENST00000265175.5	+	6	1388	c.1333C>T	c.(1333-1335)Cca>Tca	p.P445S	SEC24B_ENST00000504968.2_Missense_Mutation_p.P476S|SEC24B_ENST00000399100.2_Missense_Mutation_p.P410S	NM_006323.2	NP_006314.2	O95487	SC24B_HUMAN	SEC24 family member B	445					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|transporter activity|zinc ion binding			breast(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)		AGCTTCAGCTCCAGCTCCTGT	0.493													5	91					0	0	1	0	0	T	110415857	C	T	110415857	3	4	81	1	0	0	0	0	1	0	0	0	14049	855	30	2	1355	2	SEC24B	4	110415857	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	667526	110415857	80738419	3984	7600											
SEC24B	10427	broad.mit.edu	37	4	110431221	110431221	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:110431221C>T	ENST00000265175.5	+	8	1785	c.1730C>T	c.(1729-1731)gCt>gTt	p.A577V	SEC24B_ENST00000504968.2_Missense_Mutation_p.A607V|SEC24B_ENST00000399100.2_Missense_Mutation_p.A542V	NM_006323.2	NP_006314.2	O95487	SC24B_HUMAN	SEC24 family member B	577					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|transporter activity|zinc ion binding			breast(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)		CTGAATAAAGCTAAGCTTCCT	0.343													13	24					0	0	1	0	0	T	110431221	C	T	110431221	3	4	81	1	0	0	0	0	1	0	0	0	14049	797	28	2	1760	2	SEC24B	4	110431221	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	15364	110431221	80723055	3985	7601											
SEC24B	10427	broad.mit.edu	37	4	110446649	110446649	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:110446649G>T	ENST00000265175.5	+	16	2835	c.2780G>T	c.(2779-2781)aGg>aTg	p.R927M	SEC24B_ENST00000504968.2_Missense_Mutation_p.R957M|SEC24B_ENST00000399100.2_Missense_Mutation_p.R892M	NM_006323.2	NP_006314.2	O95487	SC24B_HUMAN	SEC24 family member B	927					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|transporter activity|zinc ion binding			breast(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)		ATGAGAATAAGGTGTACTAAA	0.323													5	38					0.000602214	0.000646338	1	1	0	T	110446649	G	T	110446649	3	4	81	1	0	0	0	0	1	0	0	0	14049	1000	35	4	2842	4	SEC24B	4	110446649	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	15428	110446649	80707627	3986	7602											
SEC24B	10427	broad.mit.edu	37	4	110452580	110452580	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:110452580C>T	ENST00000265175.5	+	20	3347	c.3292C>T	c.(3292-3294)Cgt>Tgt	p.R1098C	SEC24B_ENST00000504968.2_Missense_Mutation_p.R1128C|SEC24B_ENST00000399100.2_Missense_Mutation_p.R1063C	NM_006323.2	NP_006314.2	O95487	SC24B_HUMAN	SEC24 family member B	1098					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|transporter activity|zinc ion binding			breast(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)		GCTGGATGATCGTGTATATGC	0.358													29	51					0	0	1	0	0	T	110452580	C	T	110452580	3	4	81	1	0	0	0	0	1	0	0	0	14049	884	31	1	3370	1	SEC24B	4	110452580	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	5931	110452580	80701696	3987	7603											
CCDC109B	55013	broad.mit.edu	37	4	110608696	110608696	+	Missense_Mutation	SNP	G	G	A	rs144584495	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:110608696G>A	ENST00000394650.4	+	8	1092	c.959G>A	c.(958-960)cGt>cAt	p.R320H		NM_017918.4	NP_060388.2	Q9NWR8	C109B_HUMAN	coiled-coil domain containing 109B	320						integral to membrane				breast(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(1)	9				OV - Ovarian serous cystadenocarcinoma(123;6.65e-06)		AAACAGGCGCGTCATTCTCTC	0.353													25	48					0	0	1	0	0	A	110608696	G	A	110608696	3	1	81	1	0	0	0	0	1	0	0	0	2763	1145	40	1	989	1	CCDC109B	4	110608696	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	156116	110608696	80545580	3988	7604											
LRIT3	345193	broad.mit.edu	37	4	110790846	110790846	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:110790846G>T	ENST00000327908.3	+	4	1156	c.392G>T	c.(391-393)aGc>aTc	p.S131I	LRIT3_ENST00000379920.3_Missense_Mutation_p.S269I|LRIT3_ENST00000594814.1_Missense_Mutation_p.S314I|LRIT3_ENST00000409621.2_Missense_Mutation_p.S131I			Q3SXY7	LRIT3_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 3	269						integral to membrane				cervix(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	16				OV - Ovarian serous cystadenocarcinoma(123;0.0011)		TCCATAATGAGCTTGACAGGC	0.433													31	77					2.46105e-21	3.22097e-21	1	1	0	T	110790846	G	T	110790846	3	4	81	1	0	0	0	0	1	0	0	0	8994	971	34	4	816	4	LRIT3	4	110790846	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	182150	110790846	80363430	3989	7605											
LRIT3	345193	broad.mit.edu	37	4	110791214	110791214	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:110791214G>A	ENST00000327908.3	+	4	1524	c.760G>A	c.(760-762)Gcc>Acc	p.A254T	LRIT3_ENST00000379920.3_Missense_Mutation_p.A392T|LRIT3_ENST00000594814.1_Missense_Mutation_p.A437T|LRIT3_ENST00000409621.2_Missense_Mutation_p.A254T			Q3SXY7	LRIT3_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 3	392	Ig-like.					integral to membrane				cervix(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	16				OV - Ovarian serous cystadenocarcinoma(123;0.0011)		TACCACCATGGCCAACAAGCG	0.468													30	32					0	0	1	0	0	A	110791214	G	A	110791214	3	1	81	1	0	0	0	0	1	0	0	0	8994	1203	42	2	1184	2	LRIT3	4	110791214	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	368	110791214	80363062	3990	7606											
LRIT3	345193	broad.mit.edu	37	4	110791385	110791385	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:110791385A>G	ENST00000327908.3	+	4	1695	c.931A>G	c.(931-933)Agt>Ggt	p.S311G	LRIT3_ENST00000379920.3_Missense_Mutation_p.S449G|LRIT3_ENST00000594814.1_Missense_Mutation_p.S494G|LRIT3_ENST00000409621.2_Missense_Mutation_p.S311G			Q3SXY7	LRIT3_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 3	449						integral to membrane				cervix(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	16				OV - Ovarian serous cystadenocarcinoma(123;0.0011)		CAGGGTGGTCAGTGAGACTAA	0.458													9	80					0	0	1	0	0	G	110791385	A	G	110791385	3	3	81	1	0	0	0	0	1	0	0	0	8994	188	7	3	1355	3	LRIT3	4	110791385	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	171	110791385	80362891	3991	7607											
EGF	1950	broad.mit.edu	37	4	110920897	110920897	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:110920897G>A	ENST00000265171.5	+	21	3513	c.3068G>A	c.(3067-3069)cGc>cAc	p.R1023H	EGF_ENST00000503392.1_Missense_Mutation_p.R982H|EGF_ENST00000509793.1_Missense_Mutation_p.R981H	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN	epidermal growth factor	1023					angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity			breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sulindac(DB00605)	TGGGAACTGCGCCACGCTGGC	0.597													8	109					0	0	1	0	0	A	110920897	G	A	110920897	3	1	81	1	0	0	0	0	1	0	0	0	4988	1087	38	1	3150	1	EGF	4	110920897	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	129512	110920897	80233379	3992	7608											
ELOVL6	79071	broad.mit.edu	37	4	110972809	110972809	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:110972809G>A	ENST00000394607.3	-	5	646	c.483C>T	c.(481-483)gcC>gcT	p.A161A	ELOVL6_ENST00000302274.3_Silent_p.A161A			Q9H5J4	ELOV6_HUMAN	ELOVL fatty acid elongase 6	161					fatty acid elongation, saturated fatty acid|long-chain fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process		fatty acid elongase activity|protein binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	8				OV - Ovarian serous cystadenocarcinoma(123;0.00462)		AACCTCCCCCGGCAACCATGT	0.507													3	35					0	0	1	0	0	A	110972809	G	A	110972809	2	1	81	1	0	0	0	0	0	0	0	1	5106	1103	39	1		1	ELOVL6	4	110972809	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	51912	110972809	80181467	3993	7609											
ENPEP	2028	broad.mit.edu	37	4	111441427	111441427	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:111441427T>C	ENST00000265162.5	+	10	1974	c.1632T>C	c.(1630-1632)taT>taC	p.Y544Y		NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	544					cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)	AGATGGGTTATCCTGTGCTTA	0.423													10	91					0	0	1	0	0	C	111441427	T	C	111441427	2	2	81	1	0	0	0	0	0	0	0	1	5156	1442	50	3		3	ENPEP	4	111441427	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	468618	111441427	79712849	3994	7610											
ENPEP	2028	broad.mit.edu	37	4	111464190	111464190	+	Missense_Mutation	SNP	G	G	A	rs142728357	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:111464190G>A	ENST00000265162.5	+	13	2306	c.1964G>A	c.(1963-1965)cGt>cAt	p.R655H		NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	655					cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)	TCAGCAGATCGTGCAAGTCTT	0.328													47	56					0	0	1	0	0	A	111464190	G	A	111464190	3	1	81	1	0	0	0	0	1	0	0	0	5156	1145	40	1	2014	1	ENPEP	4	111464190	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	22763	111464190	79690086	3995	7611											
PITX2	5308	broad.mit.edu	37	4	111539657	111539657	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:111539657C>T	ENST00000354925.2	-	7	2283	c.578G>A	c.(577-579)aGc>aAc	p.S193N	PITX2_ENST00000556049.1_5'UTR|PITX2_ENST00000355080.5_Missense_Mutation_p.S147N|PITX2_ENST00000394598.2_Missense_Mutation_p.S193N|PITX2_ENST00000394595.3_Silent_p.E124E|PITX2_ENST00000306732.3_Missense_Mutation_p.S200N	NM_001204397.1	NP_001191326.1	Q99697	PITX2_HUMAN	paired-like homeodomain 2	193					determination of left/right symmetry|organ morphogenesis	transcription factor complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			breast(1)|endometrium(3)|large_intestine(1)|lung(5)	10		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00222)		GAAGGGGAAGCTCTTGGTGGA	0.537													10	26					0	0	1	0	0	T	111539657	C	T	111539657	3	4	81	1	0	0	0	0	1	0	0	0	12003	797	28	2	379	2	PITX2	4	111539657	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	75467	111539657	79614619	3996	7612											
PITX2	5308	broad.mit.edu	37	4	111539701	111539701	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:111539701G>T	ENST00000354925.2	-	7	2239	c.534C>A	c.(532-534)aaC>aaA	p.N178K	PITX2_ENST00000556049.1_5'UTR|PITX2_ENST00000355080.5_Missense_Mutation_p.N132K|PITX2_ENST00000394598.2_Missense_Mutation_p.N178K|PITX2_ENST00000394595.3_Missense_Mutation_p.L110M|PITX2_ENST00000306732.3_Missense_Mutation_p.N185K	NM_001204397.1	NP_001191326.1	Q99697	PITX2_HUMAN	paired-like homeodomain 2	178					determination of left/right symmetry|organ morphogenesis	transcription factor complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			breast(1)|endometrium(3)|large_intestine(1)|lung(5)	10		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00222)		TGGCGGCCCAGTTGTTGTAGG	0.552													24	20					1.85244e-09	2.23954e-09	1	1	0	T	111539701	G	T	111539701	3	4	81	1	0	0	0	0	1	0	0	0	12003	1020	36	4	423	4	PITX2	4	111539701	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	44	111539701	79614575	3997	7613											
PITX2	5308	broad.mit.edu	37	4	111553567	111553567	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:111553567T>C	ENST00000354925.2	-	5	1821	c.116A>G	c.(115-117)gAc>gGc	p.D39G	PITX2_ENST00000355080.5_Intron|PITX2_ENST00000394598.2_Missense_Mutation_p.D39G|PITX2_ENST00000394595.3_Missense_Mutation_p.D39G	NM_001204397.1	NP_001191326.1	Q99697	PITX2_HUMAN	paired-like homeodomain 2	39					determination of left/right symmetry|organ morphogenesis	transcription factor complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			breast(1)|endometrium(3)|large_intestine(1)|lung(5)	10		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00222)		CTCAGGAGAGTCCGTGAACTC	0.657													19	31					0	0	1	0	0	C	111553567	T	C	111553567	3	2	81	1	0	0	0	0	1	0	0	0	12003	1667	58	3	1058	3	PITX2	4	111553567	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	13866	111553567	79600709	3998	7614											
NEUROG2	63973	broad.mit.edu	37	4	113435853	113435853	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:113435853C>T	ENST00000313341.3	-	2	1105	c.779G>A	c.(778-780)cGc>cAc	p.R260H		NM_024019.3	NP_076924.1	Q9H2A3	NGN2_HUMAN	neurogenin 2	260					positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent	nucleus	E-box binding			central_nervous_system(1)|large_intestine(3)|lung(6)|skin(2)	12		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.00168)		AGGTGCATAGCGGTGCTTGTC	0.607													5	15					0	0	1	0	0	T	113435853	C	T	113435853	3	4	81	1	0	0	0	0	1	0	0	0	10400	768	27	1	43	1	NEUROG2	4	113435853	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1882286	113435853	77718423	3999	7615											
C4orf21	55345	broad.mit.edu	37	4	113530535	113530535	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:113530535C>A	ENST00000505019.1	-	8	2843	c.2718G>T	c.(2716-2718)caG>caT	p.Q906H	C4orf21_ENST00000309071.5_Splice_Site_p.Q906H	NM_018392.4	NP_060862.3	Q86YA3	CD021_HUMAN	chromosome 4 open reading frame 21	906										breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		AATAACTTACCTGCACAGACT	0.383													7	30					5.68852e-11	7.00816e-11	1	1	0	A	113530535	C	A	113530535	5	1	81	1	0	0	0	0	0	0	1	0	2269	695	24	4	3680	4	C4orf21	4	113530535	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	94682	113530535	77623741	4000	7616											
C4orf21	55345	broad.mit.edu	37	4	113540640	113540640	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:113540640C>T	ENST00000505019.1	-	6	683	c.558G>A	c.(556-558)gaG>gaA	p.E186E	C4orf21_ENST00000309071.5_Silent_p.E186E|C4orf21_ENST00000445203.2_Silent_p.E155E	NM_018392.4	NP_060862.3	Q86YA3	CD021_HUMAN	chromosome 4 open reading frame 21	186										breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		TGGCATTTCTCTCCCTGTTCT	0.403													25	42					0	0	1	0	0	T	113540640	C	T	113540640	2	4	81	1	0	0	0	0	0	0	0	1	2269	912	32	2		2	C4orf21	4	113540640	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	10105	113540640	77613636	4001	7617											
ANK2	287	broad.mit.edu	37	4	114120208	114120208	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:114120208A>G	ENST00000357077.4	+	4	380	c.327A>G	c.(325-327)caA>caG	p.Q109Q	ANK2_ENST00000506722.1_Silent_p.Q88Q|ANK2_ENST00000394537.3_Silent_p.Q109Q|ANK2_ENST00000264366.6_Silent_p.Q109Q	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	109					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TGGCTGGACAAGCAGAAGTTG	0.353													22	43					0	0	1	0	0	G	114120208	A	G	114120208	2	3	81	1	0	0	0	0	0	0	0	1	617	69	3	3		3	ANK2	4	114120208	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	579568	114120208	77034068	4002	7618											
ANK2	287	broad.mit.edu	37	4	114158192	114158192	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:114158192C>T	ENST00000357077.4	+	6	586	c.533C>T	c.(532-534)gCg>gTg	p.A178V	ANK2_ENST00000506722.1_Missense_Mutation_p.A157V|ANK2_ENST00000394537.3_Missense_Mutation_p.A178V|ANK2_ENST00000264366.6_Missense_Mutation_p.A178V	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	178					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	p.A178E(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		CACAACCAGGCGGTGGCCATC	0.498													36	73					0	0	1	0	0	T	114158192	C	T	114158192	3	4	81	1	0	0	0	0	1	0	0	0	617	768	27	1	580	1	ANK2	4	114158192	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	37984	114158192	76996084	4003	7619											
ANK2	287	broad.mit.edu	37	4	114274547	114274547	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:114274547A>G	ENST00000357077.4	+	38	4826	c.4773A>G	c.(4771-4773)gaA>gaG	p.E1591E	ANK2_ENST00000506722.1_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000264366.6_Silent_p.E1558E|ANK2_ENST00000509550.1_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	1558					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TTGAAGAGGAATGGGTTATTG	0.403													19	35					0	0	1	0	0	G	114274547	A	G	114274547	2	3	81	1	0	0	0	0	0	0	0	1	617	98	4	3		3	ANK2	4	114274547	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	116355	114274547	76879729	4004	7620											
ANK2	287	broad.mit.edu	37	4	114276477	114276477	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:114276477G>T	ENST00000357077.4	+	38	6756	c.6703G>T	c.(6703-6705)Ggc>Tgc	p.G2235C	ANK2_ENST00000506722.1_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.G2202C|ANK2_ENST00000509550.1_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	2202					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TAAGCATGAAGGCCTAGCAGA	0.507													10	93					1.5842e-08	1.88841e-08	1	1	0	T	114276477	G	T	114276477	3	4	81	1	0	0	0	0	1	0	0	0	617	1000	35	4	6918	4	ANK2	4	114276477	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1930	114276477	76877799	4005	7621											
ANK2	287	broad.mit.edu	37	4	114278095	114278095	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:114278095G>A	ENST00000357077.4	+	38	8374	c.8321G>A	c.(8320-8322)gGc>gAc	p.G2774D	ANK2_ENST00000506722.1_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.G2741D|ANK2_ENST00000509550.1_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	2741					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		ATCTGTGATGGCCATGGATGT	0.488													5	49					0	0	1	0	0	A	114278095	G	A	114278095	3	1	81	1	0	0	0	0	1	0	0	0	617	1203	42	2	8536	2	ANK2	4	114278095	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1618	114278095	76876181	4006	7622											
ANK2	287	broad.mit.edu	37	4	114288729	114288729	+	Silent	SNP	G	G	A	rs72544142		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:114288729G>A	ENST00000357077.4	+	42	11093	c.11040G>A	c.(11038-11040)tcG>tcA	p.S3680S	ANK2_ENST00000506722.1_Silent_p.S1586S|ANK2_ENST00000394537.3_Silent_p.S1595S|ANK2_ENST00000510275.2_Silent_p.S247S|ANK2_ENST00000264366.6_Silent_p.S3647S|ANK2_ENST00000509550.1_Silent_p.S771S	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	3647					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TAGGGTTCTCGGTACTTCAAG	0.363													21	44					0	0	1	0	0	A	114288729	G	A	114288729	2	1	81	1	0	0	0	0	0	0	0	1	617	1103	39	1		1	ANK2	4	114288729	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	10634	114288729	76865547	4007	7623											
ANK2	287	broad.mit.edu	37	4	114290890	114290890	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:114290890G>A	ENST00000357077.4	+	43	11592	c.11539G>A	c.(11539-11541)Gta>Ata	p.V3847I	ANK2_ENST00000506722.1_Missense_Mutation_p.V1753I|ANK2_ENST00000394537.3_Missense_Mutation_p.V1762I|ANK2_ENST00000510275.2_Missense_Mutation_p.V414I|ANK2_ENST00000264366.6_Missense_Mutation_p.V3814I|ANK2_ENST00000509550.1_Missense_Mutation_p.V938I	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	3814					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		AACCAGCCTCGTAATAGTGGA	0.542													17	31					0	0	1	0	0	A	114290890	G	A	114290890	3	1	81	1	0	0	0	0	1	0	0	0	617	1145	40	1	11774	1	ANK2	4	114290890	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2161	114290890	76863386	4008	7624											
NDST4	64579	broad.mit.edu	37	4	115997817	115997817	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:115997817C>A	ENST00000264363.2	-	2	1054	c.376G>T	c.(376-378)Ggg>Tgg	p.G126W		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	126	Heparan sulfate N-deacetylase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		GTATATTTCCCTTTGCCATTA	0.373													7	55					2.0095e-06	2.30238e-06	1	1	0	A	115997817	C	A	115997817	3	1	81	1	0	0	0	0	1	0	0	0	10305	681	24	4	2294	4	NDST4	4	115997817	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1706927	115997817	75156459	4009	7625											
TRAM1L1	133022	broad.mit.edu	37	4	118005516	118005516	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:118005516C>A	ENST00000310754.4	-	1	1220	c.1034G>T	c.(1033-1035)aGa>aTa	p.R345I		NM_152402.2	NP_689615.2	Q8N609	TR1L1_HUMAN	translocation associated membrane protein 1-like 1	345					protein transport|transmembrane transport	endoplasmic reticulum membrane|integral to membrane				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22						GTTTTCTGTTCTTTTTTTAGA	0.388													70	123					8.73484e-25	1.15412e-24	1	1	0	A	118005516	C	A	118005516	3	1	81	1	0	0	0	0	1	0	0	0	16513	913	32	4	79	4	TRAM1L1	4	118005516	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2007699	118005516	73148760	4010	7626											
PRSS12	8492	broad.mit.edu	37	4	119203986	119203986	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:119203986C>A	ENST00000296498.3	-	12	2602	c.2320G>T	c.(2320-2322)Gga>Tga	p.G774*		NM_003619.3	NP_003610.2	P56730	NETR_HUMAN	protease, serine, 12 (neurotrypsin, motopsin)	774	Peptidase S1.					membrane	scavenger receptor activity			endometrium(3)|kidney(1)|large_intestine(9)|lung(11)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	29						TATGCCTTACCTGTGTCACCC	0.433													54	428					4.17463e-26	5.53238e-26	1	1	0	A	119203986	C	A	119203986	5	1	81	1	0	0	0	0	0	0	1	0	12665	695	24	4	315	4	PRSS12	4	119203986	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1198470	119203986	71950290	4011	7627											
PRSS12	8492	broad.mit.edu	37	4	119204261	119204261	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:119204261C>T	ENST00000296498.3	-	12	2327	c.2045G>A	c.(2044-2046)gGc>gAc	p.G682D	PRSS12_ENST00000510903.1_5'UTR	NM_003619.3	NP_003610.2	P56730	NETR_HUMAN	protease, serine, 12 (neurotrypsin, motopsin)	682	Peptidase S1.					membrane	scavenger receptor activity			endometrium(3)|kidney(1)|large_intestine(9)|lung(11)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	29						AGTGCTGTTGCCATACCTGAG	0.403													6	106					0	0	1	0	0	T	119204261	C	T	119204261	3	4	81	1	0	0	0	0	1	0	0	0	12665	739	26	2	590	2	PRSS12	4	119204261	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	275	119204261	71950015	4012	7628											
METTL14	57721	broad.mit.edu	37	4	119625123	119625123	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:119625123G>T	ENST00000388822.5	+	9	939	c.772G>T	c.(772-774)Gat>Tat	p.D258Y	METTL14_ENST00000506780.1_Missense_Mutation_p.D220Y			Q9HCE5	MTL14_HUMAN	methyltransferase like 14							nucleus	mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|stomach(1)	16						AAGATGTGAAGATATTTGTTG	0.303													5	36					0.217242	0.218703	1	1	0	T	119625123	G	T	119625123	3	4	81	1	0	0	0	0	1	0	0	0	9548	942	33	4	806	4	METTL14	4	119625123	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	420862	119625123	71529153	4013	7629											
SEC24D	9871	broad.mit.edu	37	4	119662179	119662179	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:119662179C>A	ENST00000379735.5	-	16	2283	c.2012G>T	c.(2011-2013)aGa>aTa	p.R671I	SEC24D_ENST00000505134.1_5'UTR|SEC24D_ENST00000419654.2_Missense_Mutation_p.R226I|SEC24D_ENST00000511481.1_Missense_Mutation_p.R301I|SEC24D_ENST00000280551.6_Missense_Mutation_p.R670I|SEC24D_ENST00000429811.2_Missense_Mutation_p.R226I	NM_014822.2	NP_055637.2	O94855	SC24D_HUMAN	SEC24 family member D	670					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37						AAATTGTTGTCTATCCAAGTG	0.308													10	5					0.000442599	0.000477972	1	1	0	A	119662179	C	A	119662179	3	1	81	1	0	0	0	0	1	0	0	0	14051	913	32	4	1121	4	SEC24D	4	119662179	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	37056	119662179	71492097	4014	7630											
SEC24D	9871	broad.mit.edu	37	4	119745835	119745835	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:119745835G>T	ENST00000379735.5	-	3	459	c.188C>A	c.(187-189)cCt>cAt	p.P63H	SEC24D_ENST00000419654.2_5'UTR|SEC24D_ENST00000280551.6_Missense_Mutation_p.P63H	NM_014822.2	NP_055637.2	O94855	SC24D_HUMAN	SEC24 family member D	63	Pro-rich.				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37						GGGTCCAGGAGGTGGGGGACC	0.552													6	146					0.00116845	0.00124301	1	1	0	T	119745835	G	T	119745835	3	4	81	1	0	0	0	0	1	0	0	0	14051	1000	35	4	2994	4	SEC24D	4	119745835	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	83656	119745835	71408441	4015	7631											
SEC24D	9871	broad.mit.edu	37	4	119754819	119754819	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:119754819C>T	ENST00000379735.5	-	2	304	c.33G>A	c.(31-33)ccG>ccA	p.P11P	SEC24D_ENST00000419654.2_5'UTR|SEC24D_ENST00000280551.6_Silent_p.P11P	NM_014822.2	NP_055637.2	O94855	SC24D_HUMAN	SEC24 family member D	11	Pro-rich.				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37						GCTGAGAATACGGAGGTGTAG	0.433													22	48					0	0	1	0	0	T	119754819	C	T	119754819	2	4	81	1	0	0	0	0	0	0	0	1	14051	523	19	1		1	SEC24D	4	119754819	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	8984	119754819	71399457	4016	7632											
SYNPO2	171024	broad.mit.edu	37	4	119951134	119951134	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:119951134C>T	ENST00000307142.4	+	4	1400	c.1204C>T	c.(1204-1206)Cgg>Tgg	p.R402W	SYNPO2_ENST00000434046.2_Missense_Mutation_p.R402W|SYNPO2_ENST00000448416.2_Intron|SYNPO2_ENST00000429713.2_Missense_Mutation_p.R402W	NM_133477.2	NP_597734.2	Q9UMS6	SYNP2_HUMAN	synaptopodin 2	402	Poly-Arg.					nucleus|Z disc	14-3-3 protein binding|actin binding|muscle alpha-actinin binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						GAAGCGACGTCGGAGGGCCAG	0.507													29	54					0	0	1	0	0	T	119951134	C	T	119951134	3	4	81	1	0	0	0	0	1	0	0	0	15514	875	31	1	1218	1	SYNPO2	4	119951134	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	196315	119951134	71203142	4017	7633											
SYNPO2	171024	broad.mit.edu	37	4	119951996	119951996	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:119951996G>A	ENST00000307142.4	+	4	2262	c.2066G>A	c.(2065-2067)aGg>aAg	p.R689K	SYNPO2_ENST00000434046.2_Missense_Mutation_p.R689K|SYNPO2_ENST00000448416.2_Intron|SYNPO2_ENST00000429713.2_Missense_Mutation_p.R689K	NM_133477.2	NP_597734.2	Q9UMS6	SYNP2_HUMAN	synaptopodin 2	689						nucleus|Z disc	14-3-3 protein binding|actin binding|muscle alpha-actinin binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						GAGGCCAAAAGGAGAAGCACG	0.468													13	22					0	0	1	0	0	A	119951996	G	A	119951996	3	1	81	1	0	0	0	0	1	0	0	0	15514	1000	35	2	2080	2	SYNPO2	4	119951996	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	862	119951996	71202280	4018	7634											
SYNPO2	171024	broad.mit.edu	37	4	119952838	119952838	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:119952838T>C	ENST00000307142.4	+	4	3104	c.2908T>C	c.(2908-2910)Tat>Cat	p.Y970H	SYNPO2_ENST00000434046.2_Missense_Mutation_p.Y970H|SYNPO2_ENST00000448416.2_Intron|SYNPO2_ENST00000429713.2_Missense_Mutation_p.Y970H	NM_133477.2	NP_597734.2	Q9UMS6	SYNP2_HUMAN	synaptopodin 2	970						nucleus|Z disc	14-3-3 protein binding|actin binding|muscle alpha-actinin binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						GCACCAACCGTATCAGCTCAA	0.488													3	35					0	0	1	0	0	C	119952838	T	C	119952838	3	2	81	1	0	0	0	0	1	0	0	0	15514	1638	57	3	2922	3	SYNPO2	4	119952838	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	842	119952838	71201438	4019	7635											
MYOZ2	51778	broad.mit.edu	37	4	120072113	120072113	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:120072113G>A	ENST00000307128.5	+	3	376	c.163G>A	c.(163-165)Gcc>Acc	p.A55T		NM_016599.4	NP_057683.1	Q9NPC6	MYOZ2_HUMAN	myozenin 2	55							protein phosphatase 2B binding			endometrium(1)|large_intestine(6)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16						TAACCGTGGTGCCAGGCTATT	0.388													44	61					0	0	1	0	0	A	120072113	G	A	120072113	3	1	81	1	0	0	0	0	1	0	0	0	10144	1319	46	2	169	2	MYOZ2	4	120072113	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	119275	120072113	71082163	4020	7636											
USP53	54532	broad.mit.edu	37	4	120177653	120177653	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:120177653C>T	ENST00000450251.1	+	5	1088	c.544C>T	c.(544-546)Cgg>Tgg	p.R182W	USP53_ENST00000274030.6_Missense_Mutation_p.R182W			Q70EK8	UBP53_HUMAN	ubiquitin specific peptidase 53	182					ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	27						AGAATTTGTGCGGTACATTTC	0.313													28	65					0	0	1	0	0	T	120177653	C	T	120177653	3	4	81	1	0	0	0	0	1	0	0	0	17144	759	27	1	562	1	USP53	4	120177653	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	105540	120177653	70976623	4021	7637											
USP53	54532	broad.mit.edu	37	4	120181736	120181736	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:120181736C>A	ENST00000450251.1	+	7	1294	c.750C>A	c.(748-750)gtC>gtA	p.V250V	USP53_ENST00000274030.6_Silent_p.V250V			Q70EK8	UBP53_HUMAN	ubiquitin specific peptidase 53	250					ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	27						TTGGTTTAGTCTGGGACTCCG	0.378													31	45					5.45727e-16	6.98592e-16	1	1	0	A	120181736	C	A	120181736	2	1	81	1	0	0	0	0	0	0	0	1	17144	900	32	4		4	USP53	4	120181736	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	4083	120181736	70972540	4022	7638											
PDE5A	8654	broad.mit.edu	37	4	120528342	120528342	+	Missense_Mutation	SNP	C	C	T	rs150282561	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:120528342C>T	ENST00000354960.3	-	2	582	c.263G>A	c.(262-264)cGt>cAt	p.R88H	PDE5A_ENST00000394439.1_Missense_Mutation_p.R36H|PDE5A_ENST00000264805.5_Missense_Mutation_p.R46H	NM_001083.3	NP_001074.2	O76074	PDE5A_HUMAN	phosphodiesterase 5A, cGMP-specific	88					platelet activation|signal transduction	cytosol	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|zinc ion binding			breast(4)|endometrium(2)|kidney(3)|large_intestine(8)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	27					Dipyridamole(DB00975)|Pentoxifylline(DB00806)|Sildenafil(DB00203)|Tadalafil(DB00820)|Theophylline(DB00277)|Vardenafil(DB00862)	GTTATCTGCACGAGGACTCTG	0.507													22	26					0	0	1	0	0	T	120528342	C	T	120528342	3	4	81	1	0	0	0	0	1	0	0	0	11691	536	19	1	2444	1	PDE5A	4	120528342	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	346606	120528342	70625934	4023	7639											
TNIP3	79931	broad.mit.edu	37	4	122068271	122068271	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:122068271T>C	ENST00000454328.1	-	9	895	c.668A>G	c.(667-669)cAa>cGa	p.Q223R	TNIP3_ENST00000057513.3_Missense_Mutation_p.Q223R|TNIP3_ENST00000509841.1_Missense_Mutation_p.Q300R|TNIP3_ENST00000511909.1_5'UTR|TNIP3_ENST00000507879.1_Missense_Mutation_p.Q293R			Q96KP6	TNIP3_HUMAN	TNFAIP3 interacting protein 3	223										NS(1)|endometrium(4)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(2)	24						CTCTTTCTCTTGATTAAGTCT	0.383													12	129					0	0	1	0	0	C	122068271	T	C	122068271	3	2	81	1	0	0	0	0	1	0	0	0	16376	1812	63	3	329	3	TNIP3	4	122068271	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	1539929	122068271	69086005	4024	7640											
TMEM155	132332	broad.mit.edu	37	4	122681480	122681480	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:122681480G>T	ENST00000337677.5	-	6	920	c.362C>A	c.(361-363)tCa>tAa	p.S121*	TMEM155_ENST00000394394.1_Nonsense_Mutation_p.S121*|TMEM155_ENST00000394396.1_Nonsense_Mutation_p.S121*	NM_152399.2	NP_689612.2	Q4W5P6	TM155_HUMAN	transmembrane protein 155	121						extracellular region				breast(1)|lung(5)	6						agtagccaatgacacagttct	0.413													15	20					7.93312e-07	9.15943e-07	1	1	0	T	122681480	G	T	122681480	4	4	81	1	0	0	0	0	0	1	0	0	16132	1294	45	5	34	5	TMEM155	4	122681480	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	613209	122681480	68472796	4025	7641											
TMEM155	132332	broad.mit.edu	37	4	122682771	122682771	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:122682771T>C	ENST00000337677.5	-	5	692	c.134A>G	c.(133-135)cAt>cGt	p.H45R	TMEM155_ENST00000394394.1_Missense_Mutation_p.H45R|TMEM155_ENST00000394396.1_Missense_Mutation_p.H45R	NM_152399.2	NP_689612.2	Q4W5P6	TM155_HUMAN	transmembrane protein 155	45						extracellular region				breast(1)|lung(5)	6						AGCCAGTGCATGGCACACTCT	0.433													6	44					0	0	1	0	0	C	122682771	T	C	122682771	3	2	81	1	0	0	0	0	1	0	0	0	16132	1464	51	3	266	3	TMEM155	4	122682771	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	1291	122682771	68471505	4026	7642											
BBS7	55212	broad.mit.edu	37	4	122754537	122754537	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:122754537G>T	ENST00000264499.4	-	15	1708	c.1525C>A	c.(1525-1527)Ctg>Atg	p.L509M	BBS7_ENST00000506636.1_Missense_Mutation_p.L509M	NM_176824.2	NP_789794.1	Q8IWZ6	BBS7_HUMAN	Bardet-Biedl syndrome 7	509					cilium morphogenesis|digestive tract morphogenesis|fat cell differentiation|heart looping|melanosome transport|pigment granule aggregation in cell center|response to stimulus|visual perception	BBSome|centrosome|cilium membrane	protein binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						GTTAGGGTCAGTGTATTCATG	0.398									Bardet-Biedl syndrome				8	58					0.00448238	0.00470627	1	1	0	T	122754537	G	T	122754537	3	4	81	1	0	0	0	0	1	0	0	0	1339	1020	36	4	647	4	BBS7	4	122754537	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	71766	122754537	68399739	4027	7643											
KIAA1109	84162	broad.mit.edu	37	4	123109181	123109181	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:123109181G>A	ENST00000264501.4	+	9	1132	c.759G>A	c.(757-759)aaG>aaA	p.K253K	KIAA1109_ENST00000455637.1_Silent_p.K253K|KIAA1109_ENST00000388738.3_Silent_p.K253K			Q2LD37	K1109_HUMAN	KIAA1109	253					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						TGAAAGGAAAGCTTGAAAATG	0.323													4	62					0	0	1	0	0	A	123109181	G	A	123109181	2	1	81	1	0	0	0	0	0	0	0	1	8250	962	34	2		2	KIAA1109	4	123109181	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	354644	123109181	68045095	4028	7644											
KIAA1109	84162	broad.mit.edu	37	4	123160873	123160873	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:123160873T>C	ENST00000264501.4	+	29	4409	c.4036T>C	c.(4036-4038)Tct>Cct	p.S1346P	KIAA1109_ENST00000455637.1_Missense_Mutation_p.S1346P|KIAA1109_ENST00000495260.1_3'UTR|KIAA1109_ENST00000388738.3_Missense_Mutation_p.S1346P			Q2LD37	K1109_HUMAN	KIAA1109	1346					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						TAGTGATGTCTCTCGAAGTGA	0.433													5	74					0	0	1	0	0	C	123160873	T	C	123160873	3	2	81	1	0	0	0	0	1	0	0	0	8250	1551	54	3	4142	3	KIAA1109	4	123160873	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	51692	123160873	67993403	4029	7645											
KIAA1109	84162	broad.mit.edu	37	4	123161240	123161240	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:123161240C>T	ENST00000264501.4	+	29	4776	c.4403C>T	c.(4402-4404)gCg>gTg	p.A1468V	KIAA1109_ENST00000455637.1_Missense_Mutation_p.A1468V|KIAA1109_ENST00000388738.3_Missense_Mutation_p.A1468V			Q2LD37	K1109_HUMAN	KIAA1109	1468					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						TTTGTTTCTGCGTTAGGTGGA	0.423													5	68					0	0	1	0	0	T	123161240	C	T	123161240	3	4	81	1	0	0	0	0	1	0	0	0	8250	768	27	1	4509	1	KIAA1109	4	123161240	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	367	123161240	67993036	4030	7646											
KIAA1109	84162	broad.mit.edu	37	4	123252487	123252487	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:123252487G>A	ENST00000264501.4	+	67	11629	c.11256G>A	c.(11254-11256)acG>acA	p.T3752T	KIAA1109_ENST00000388738.3_Silent_p.T3752T			Q2LD37	K1109_HUMAN	KIAA1109	3752					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						GTAGACATACGTCTCGTAAAA	0.378													8	17					0	0	1	0	0	A	123252487	G	A	123252487	2	1	81	1	0	0	0	0	0	0	0	1	8250	1132	40	1		1	KIAA1109	4	123252487	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	91247	123252487	67901789	4031	7647											
SPATA5	166378	broad.mit.edu	37	4	123978389	123978389	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:123978389C>T	ENST00000274008.4	+	13	2228	c.2159C>T	c.(2158-2160)gCg>gTg	p.A720V	SPATA5_ENST00000422835.2_3'UTR	NM_145207.2	NP_660208.2	Q8NB90	SPAT5_HUMAN	spermatogenesis associated 5						cell differentiation|multicellular organismal development|spermatogenesis	mitochondrion	ATP binding|nucleoside-triphosphatase activity			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24						AGAGCAGTGGCGCCTTCCATT	0.378													22	46					0	0	1	0	0	T	123978389	C	T	123978389	3	4	81	1	0	0	0	0	1	0	0	0	15067	768	27	1	2209	1	SPATA5	4	123978389	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	725902	123978389	67175887	4032	7648											
SPATA5	166378	broad.mit.edu	37	4	124011759	124011759	+	Missense_Mutation	SNP	G	G	A	rs138229076		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:124011759G>A	ENST00000274008.4	+	14	2308	c.2239G>A	c.(2239-2241)Gat>Aat	p.D747N	SPATA5_ENST00000422835.2_3'UTR	NM_145207.2	NP_660208.2	Q8NB90	SPAT5_HUMAN	spermatogenesis associated 5						cell differentiation|multicellular organismal development|spermatogenesis	mitochondrion	ATP binding|nucleoside-triphosphatase activity			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24						GAATGTAGCCGATCGTGTTTT	0.353													40	55					0	0	1	0	0	A	124011759	G	A	124011759	3	1	81	1	0	0	0	0	1	0	0	0	15067	1058	37	1	2293	1	SPATA5	4	124011759	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	33370	124011759	67142517	4033	7649											
SPATA5	166378	broad.mit.edu	37	4	124177314	124177314	+	Silent	SNP	C	C	T	rs76934283	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:124177314C>T	ENST00000274008.4	+	15	2553	c.2484C>T	c.(2482-2484)acC>acT	p.T828T		NM_145207.2	NP_660208.2	Q8NB90	SPAT5_HUMAN	spermatogenesis associated 5						cell differentiation|multicellular organismal development|spermatogenesis	mitochondrion	ATP binding|nucleoside-triphosphatase activity			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24						TCCTTCAAACCGACGCATACT	0.448													23	38					0	0	1	0	0	T	124177314	C	T	124177314	2	4	81	1	0	0	0	0	0	0	0	1	15067	639	23	1		1	SPATA5	4	124177314	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	165555	124177314	66976962	4034	7650											
SPRY1	10252	broad.mit.edu	37	4	124323307	124323307	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:124323307C>T	ENST00000394339.2	+	2	901	c.561C>T	c.(559-561)tgC>tgT	p.C187C	SPRY1_ENST00000339241.1_Silent_p.C187C	NM_001258039.1|NM_005841.2	NP_001244968.1|NP_005832.1	O43609	SPY1_HUMAN	sprouty homolog 1, antagonist of FGF signaling (Drosophila)	187	Cys-rich.|SPR.				epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	cytosol|lamellipodium|plasma membrane				NS(1)|large_intestine(4)|lung(2)|ovary(1)|skin(3)	11						GTGGGAAGTGCAAGTGTGGAG	0.522													26	43					0	0	1	0	0	T	124323307	C	T	124323307	2	4	81	1	0	0	0	0	0	0	0	1	15161	718	25	2		2	SPRY1	4	124323307	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	145993	124323307	66830969	4035	7651											
SPRY1	10252	broad.mit.edu	37	4	124323657	124323657	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:124323657A>G	ENST00000394339.2	+	2	1251	c.911A>G	c.(910-912)tAt>tGt	p.Y304C	SPRY1_ENST00000339241.1_Missense_Mutation_p.Y304C	NM_001258039.1|NM_005841.2	NP_001244968.1|NP_005832.1	O43609	SPY1_HUMAN	sprouty homolog 1, antagonist of FGF signaling (Drosophila)	304	Cys-rich.				epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	cytosol|lamellipodium|plasma membrane				NS(1)|large_intestine(4)|lung(2)|ovary(1)|skin(3)	11						AACACTGTCTATTGTAAGCTG	0.502													11	106					0	0	1	0	0	G	124323657	A	G	124323657	3	3	81	1	0	0	0	0	1	0	0	0	15161	449	16	3	913	3	SPRY1	4	124323657	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	350	124323657	66830619	4036	7652											
ANKRD50	57182	broad.mit.edu	37	4	125591022	125591022	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:125591022C>T	ENST00000504087.1	-	4	4447	c.3410G>A	c.(3409-3411)aGc>aAc	p.S1137N	ANKRD50_ENST00000515641.1_Missense_Mutation_p.S958N	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	1137	Ser-rich.									NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						ACTACCAGAGCTATTTGATTT	0.423													58	116					0	0	1	0	0	T	125591022	C	T	125591022	3	4	81	1	0	0	0	0	1	0	0	0	671	797	28	2	883	2	ANKRD50	4	125591022	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1267365	125591022	65563254	4037	7653											
ANKRD50	57182	broad.mit.edu	37	4	125593066	125593066	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:125593066C>T	ENST00000504087.1	-	4	2403	c.1366G>A	c.(1366-1368)Gca>Aca	p.A456T	ANKRD50_ENST00000515641.1_Missense_Mutation_p.A277T	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	456										NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						AAGTGCAATGCAAATTCTTGT	0.383													42	89					0	0	1	0	0	T	125593066	C	T	125593066	3	4	81	1	0	0	0	0	1	0	0	0	671	710	25	2	2927	2	ANKRD50	4	125593066	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2044	125593066	65561210	4038	7654											
FAT4	79633	broad.mit.edu	37	4	126239717	126239717	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:126239717C>T	ENST00000394329.3	+	1	2164	c.2151C>T	c.(2149-2151)gaC>gaT	p.D717D		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	717	Cadherin 7.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CTGACCCAGACTTGGGTACCA	0.488													18	43					0	0	1	0	0	T	126239717	C	T	126239717	2	4	81	1	0	0	0	0	0	0	0	1	5725	564	20	2		2	FAT4	4	126239717	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	646651	126239717	64914559	4039	7655											
FAT4	79633	broad.mit.edu	37	4	126241177	126241177	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:126241177A>C	ENST00000394329.3	+	1	3624	c.3611A>C	c.(3610-3612)aAt>aCt	p.N1204T		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1204	Cadherin 11.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						AAGGATATAAATGATAATGCT	0.408													5	68					0	0	1	0	0	C	126241177	A	C	126241177	3	2	81	1	0	0	0	0	1	0	0	0	5725	101	4	4	3613	4	FAT4	4	126241177	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	1460	126241177	64913099	4040	7656											
FAT4	79633	broad.mit.edu	37	4	126242732	126242732	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:126242732G>T	ENST00000394329.3	+	1	5179	c.5166G>T	c.(5164-5166)caG>caT	p.Q1722H		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1722	Cadherin 16.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CCAGAACACAGAGAGCAGAGG	0.358													5	60					0.00116845	0.00124301	1	1	0	T	126242732	G	T	126242732	3	4	81	1	0	0	0	0	1	0	0	0	5725	933	33	4	5168	4	FAT4	4	126242732	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1555	126242732	64911544	4041	7657											
FAT4	79633	broad.mit.edu	37	4	126328128	126328128	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:126328128C>T	ENST00000394329.3	+	3	5414	c.5401C>T	c.(5401-5403)Cgg>Tgg	p.R1801W	FAT4_ENST00000335110.5_Missense_Mutation_p.R99W	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1801	Cadherin 17.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						AGCAACCAGGCGGTTGGACAG	0.458													41	73					0	0	1	0	0	T	126328128	C	T	126328128	3	4	81	1	0	0	0	0	1	0	0	0	5725	759	27	1	5411	1	FAT4	4	126328128	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	85396	126328128	64826148	4042	7658											
FAT4	79633	broad.mit.edu	37	4	126336616	126336616	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:126336616C>T	ENST00000394329.3	+	5	6511	c.6498C>T	c.(6496-6498)aaC>aaT	p.N2166N	FAT4_ENST00000335110.5_Silent_p.N464N	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2166	Cadherin 21.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TTAATGAAAACACACTTACTG	0.388													7	90					0	0	1	0	0	T	126336616	C	T	126336616	2	4	81	1	0	0	0	0	0	0	0	1	5725	477	17	2		2	FAT4	4	126336616	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	8488	126336616	64817660	4043	7659											
FAT4	79633	broad.mit.edu	37	4	126336687	126336687	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:126336687G>A	ENST00000394329.3	+	5	6582	c.6569G>A	c.(6568-6570)cGc>cAc	p.R2190H	FAT4_ENST00000335110.5_Missense_Mutation_p.R488H	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2190	Cadherin 21.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GGACAGGTTCGCTATGGCATT	0.413													18	103					0	0	1	0	0	A	126336687	G	A	126336687	3	1	81	1	0	0	0	0	1	0	0	0	5725	1087	38	1	6587	1	FAT4	4	126336687	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	71	126336687	64817589	4044	7660											
FAT4	79633	broad.mit.edu	37	4	126337709	126337709	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:126337709G>A	ENST00000394329.3	+	6	6963	c.6950G>A	c.(6949-6951)gGa>gAa	p.G2317E	FAT4_ENST00000335110.5_Missense_Mutation_p.G615E	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2317	Cadherin 22.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GGAGAACTTGGAGTAACACAG	0.413													73	123					0	0	1	0	0	A	126337709	G	A	126337709	3	1	81	1	0	0	0	0	1	0	0	0	5725	1174	41	2	6972	2	FAT4	4	126337709	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1022	126337709	64816567	4045	7661											
FAT4	79633	broad.mit.edu	37	4	126337763	126337763	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:126337763C>T	ENST00000394329.3	+	6	7017	c.7004C>T	c.(7003-7005)aCa>aTa	p.T2335I	FAT4_ENST00000335110.5_Missense_Mutation_p.T633I	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2335	Cadherin 22.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TTAATGATTACAGCTACAGAT	0.453													7	149					0	0	1	0	0	T	126337763	C	T	126337763	3	4	81	1	0	0	0	0	1	0	0	0	5725	478	17	2	7026	2	FAT4	4	126337763	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	54	126337763	64816513	4046	7662											
FAT4	79633	broad.mit.edu	37	4	126355525	126355525	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:126355525G>T	ENST00000394329.3	+	7	7157	c.7144G>T	c.(7144-7146)Gat>Tat	p.D2382Y	FAT4_ENST00000335110.5_Missense_Mutation_p.D680Y	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2382	Cadherin 23.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						AACTGGAACAGATGTTTTATT	0.368													31	63					1.88708e-17	2.43564e-17	1	1	0	T	126355525	G	T	126355525	3	4	81	1	0	0	0	0	1	0	0	0	5725	942	33	4	7170	4	FAT4	4	126355525	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	17762	126355525	64798751	4047	7663											
FAT4	79633	broad.mit.edu	37	4	126371190	126371190	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:126371190G>T	ENST00000394329.3	+	9	9032	c.9019G>T	c.(9019-9021)Gca>Tca	p.A3007S	FAT4_ENST00000335110.5_Missense_Mutation_p.A1305S	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3007	Cadherin 29.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CAGAGTTACAGCAATAGATGA	0.338													16	49					1.02788e-11	1.2764e-11	1	1	0	T	126371190	G	T	126371190	3	4	81	1	0	0	0	0	1	0	0	0	5725	971	34	4	9053	4	FAT4	4	126371190	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	15665	126371190	64783086	4048	7664											
FAT4	79633	broad.mit.edu	37	4	126398495	126398495	+	Missense_Mutation	SNP	G	G	A	rs143740948		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:126398495G>A	ENST00000335110.5	+	12	7268	c.7268G>A	c.(7267-7269)gGc>gAc	p.G2423D	FAT4_ENST00000394329.3_Intron			Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4160	Cadherin 23.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GATCAGTATGGCGATTTTATT	0.368													5	98					0	0	1	0	0	A	126398495	G	A	126398495	3	1	81	1	0	0	0	0	1	0	0	0	5725	1218	42	2		2	FAT4	4	126398495	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	27305	126398495	64755781	4049	7665											
INTU	27152	broad.mit.edu	37	4	128626764	128626764	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:128626764C>T	ENST00000335251.6	+	11	1688	c.1585C>T	c.(1585-1587)Cat>Tat	p.H529Y	INTU_ENST00000512995.1_3'UTR	NM_015693.3	NP_056508.2	Q9ULD6	PDZD6_HUMAN	inturned planar cell polarity protein											breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	43						GATATGCAGTCATTTGCCCAA	0.368													47	100					0	0	1	0	0	T	128626764	C	T	128626764	3	4	81	1	0	0	0	0	1	0	0	0	7830	826	29	2	1627	2	INTU	4	128626764	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2228269	128626764	62527512	4050	7666											
INTU	27152	broad.mit.edu	37	4	128626796	128626796	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:128626796C>T	ENST00000335251.6	+	11	1720	c.1617C>T	c.(1615-1617)gcC>gcT	p.A539A	INTU_ENST00000512995.1_3'UTR	NM_015693.3	NP_056508.2	Q9ULD6	PDZD6_HUMAN	inturned planar cell polarity protein											breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	43						TTGATATTGCCGTATACTGTC	0.403													19	166					0	0	1	0	0	T	128626796	C	T	128626796	2	4	81	1	0	0	0	0	0	0	0	1	7830	639	23	1		1	INTU	4	128626796	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	32	128626796	62527480	4051	7667											
INTU	27152	broad.mit.edu	37	4	128632127	128632127	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:128632127G>A	ENST00000335251.6	+	14	2532	c.2429G>A	c.(2428-2430)gGa>gAa	p.G810E		NM_015693.3	NP_056508.2	Q9ULD6	PDZD6_HUMAN	inturned planar cell polarity protein											breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	43						ACAGTGCAAGGAATCTTTATT	0.383													21	37					0	0	1	0	0	A	128632127	G	A	128632127	3	1	81	1	0	0	0	0	1	0	0	0	7830	1174	41	2	2483	2	INTU	4	128632127	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	5331	128632127	62522149	4052	7668											
SLC25A31	83447	broad.mit.edu	37	4	128688327	128688327	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:128688327C>T	ENST00000281154.4	+	4	753	c.585C>T	c.(583-585)ggC>ggT	p.G195G		NM_031291.2	NP_112581.1	Q9H0C2	ADT4_HUMAN	solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 31	195					transmembrane transport	cilium|flagellum|integral to membrane|mitochondrial inner membrane	binding|transporter activity			NS(1)|breast(1)|large_intestine(10)|lung(8)|skin(2)	22						CAGTACAGGGCATCATTGTGT	0.378													9	131					0	0	1	0	0	T	128688327	C	T	128688327	2	4	81	1	0	0	0	0	0	0	0	1	14550	697	25	2		2	SLC25A31	4	128688327	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	56200	128688327	62465949	4053	7669											
LARP1B	55132	broad.mit.edu	37	4	129012278	129012278	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:129012278C>T	ENST00000326639.6	+	6	692	c.481C>T	c.(481-483)Cga>Tga	p.R161*	LARP1B_ENST00000441387.1_Nonsense_Mutation_p.R161*|LARP1B_ENST00000432347.2_Nonsense_Mutation_p.R161*|LARP1B_ENST00000427266.1_Nonsense_Mutation_p.R161*|LARP1B_ENST00000394288.3_Nonsense_Mutation_p.R161*|LARP1B_ENST00000264584.5_Nonsense_Mutation_p.R114*|LARP1B_ENST00000512292.1_Nonsense_Mutation_p.R161*|LARP1B_ENST00000354456.3_5'UTR	NM_018078.2	NP_060548.2	Q659C4	LAR1B_HUMAN	La ribonucleoprotein domain family, member 1B	161	Arg-rich.						RNA binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(11)|ovary(1)|prostate(3)	34						GGGAAGAGGACGAGGCAGAGG	0.408													50	63					0	0	1	0	0	T	129012278	C	T	129012278	4	4	81	1	0	0	0	0	0	1	0	0	8668	528	19	1	495	1	LARP1B	4	129012278	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	323951	129012278	62141998	4054	7670											
PCDH18	54510	broad.mit.edu	37	4	138442723	138442723	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:138442723C>T	ENST00000344876.4	-	4	3254	c.2868G>A	c.(2866-2868)acG>acA	p.T956T	PCDH18_ENST00000412923.2_Silent_p.T955T|PCDH18_ENST00000507846.1_Silent_p.T735T|PCDH18_ENST00000511115.1_Silent_p.T136T|PCDH18_ENST00000510305.1_Silent_p.T167T	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	956	Interaction with DAB1 (By similarity).				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.T956T(1)		NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					GCTGGGGTTGCGTTGGGAATT	0.517													33	86					0	0	1	0	0	T	138442723	C	T	138442723	2	4	81	1	0	0	0	0	0	0	0	1	11560	755	27	1		1	PCDH18	4	138442723	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	9430445	138442723	52711553	4055	7671											
SLC7A11	23657	broad.mit.edu	37	4	139140512	139140512	+	Silent	SNP	C	C	T	rs143734527	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:139140512C>T	ENST00000280612.5	-	5	933	c.654G>A	c.(652-654)acG>acA	p.T218T		NM_014331.3	NP_055146.1	Q9UPY5	XCT_HUMAN	solute carrier family 7 (anionic amino acid transporter light chain, xc- system), member 11	218					blood coagulation|cellular nitrogen compound metabolic process|leukocyte migration|response to toxin	integral to membrane|plasma membrane	cystine:glutamate antiporter activity|protein binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(2)	18	all_hematologic(180;0.166)				L-Cystine(DB00138)|L-Glutamic Acid(DB00142)|Sulfasalazine(DB00795)	TAAAGTTCTGCGTTTGACCTG	0.388													29	47					0	0	1	0	0	T	139140512	C	T	139140512	2	4	81	1	0	0	0	0	0	0	0	1	14749	755	27	1		1	SLC7A11	4	139140512	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	697789	139140512	52013764	4056	7672											
ELF2	1998	broad.mit.edu	37	4	139981701	139981701	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:139981701C>A	ENST00000394235.2	-	9	1400	c.898G>T	c.(898-900)Gca>Tca	p.A300S	ELF2_ENST00000379550.1_Missense_Mutation_p.A312S|ELF2_ENST00000379549.2_Missense_Mutation_p.A223S|ELF2_ENST00000510408.1_Missense_Mutation_p.A240S|ELF2_ENST00000515489.1_5'UTR|ELF2_ENST00000358635.3_Missense_Mutation_p.A252S|ELF2_ENST00000265495.4_Missense_Mutation_p.A300S	NM_001276458.1	NP_001263387.1	Q15723	ELF2_HUMAN	E74-like factor 2 (ets domain transcription factor)	312					negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	cytoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	19	all_hematologic(180;0.162)					GTAGTTCCTGCTAAATCTTCA	0.403													10	132					2.17888e-05	2.43576e-05	1	1	0	A	139981701	C	A	139981701	3	1	81	1	0	0	0	0	1	0	0	0	5082	797	28	4	855	4	ELF2	4	139981701	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	841189	139981701	51172575	4057	7673											
ELF2	1998	broad.mit.edu	37	4	139981791	139981791	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:139981791C>A	ENST00000394235.2	-	9	1310	c.808G>T	c.(808-810)Gga>Tga	p.G270*	ELF2_ENST00000379550.1_Nonsense_Mutation_p.G282*|ELF2_ENST00000379549.2_Nonsense_Mutation_p.G193*|ELF2_ENST00000510408.1_Nonsense_Mutation_p.G210*|ELF2_ENST00000358635.3_Nonsense_Mutation_p.G222*|ELF2_ENST00000265495.4_Nonsense_Mutation_p.G270*	NM_001276458.1	NP_001263387.1	Q15723	ELF2_HUMAN	E74-like factor 2 (ets domain transcription factor)	282					negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	cytoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	19	all_hematologic(180;0.162)					AGCCTCTGTCCTTCAACCTTT	0.398													44	83					1.30409e-13	1.64681e-13	1	1	0	A	139981791	C	A	139981791	4	1	81	1	0	0	0	0	0	1	0	0	5082	690	24	4	945	4	ELF2	4	139981791	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	90	139981791	51172485	4058	7674											
NAA15	80155	broad.mit.edu	37	4	140275240	140275240	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:140275240T>C	ENST00000296543.5	+	10	1398	c.1075T>C	c.(1075-1077)Ttt>Ctt	p.F359L	NAA15_ENST00000398947.1_Missense_Mutation_p.F359L	NM_057175.3	NP_476516.1	Q9BXJ9	NAA15_HUMAN	N(alpha)-acetyltransferase 15, NatA auxiliary subunit	359					angiogenesis|cell differentiation|N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|transcription factor complex	protein binding			NS(1)|endometrium(3)|large_intestine(7)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						CTGCCGGTTATTTAACCCCAA	0.308													11	93					0	0	1	0	0	C	140275240	T	C	140275240	3	2	81	1	0	0	0	0	1	0	0	0	10166	1493	52	3	1113	3	NAA15	4	140275240	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	293449	140275240	50879036	4059	7675											
SETD7	80854	broad.mit.edu	37	4	140454392	140454392	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:140454392G>A	ENST00000274031.3	-	3	935	c.299C>T	c.(298-300)aCa>aTa	p.T100I	SETD7_ENST00000406354.1_3'UTR|SETD7_ENST00000506866.2_Missense_Mutation_p.T100I|SETD7_ENST00000404104.3_Missense_Mutation_p.T100I	NM_030648.2	NP_085151.1	Q8WTS6	SETD7_HUMAN	SET domain containing (lysine methyltransferase) 7	100					peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	histone-lysine N-methyltransferase activity|p53 binding			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	8	all_hematologic(180;0.156)					TCTCCCATCTGTGTCATATTC	0.507													9	59					0	0	1	0	0	A	140454392	G	A	140454392	3	1	81	1	0	0	0	0	1	0	0	0	14190	1377	48	2	825	2	SETD7	4	140454392	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	179152	140454392	50699884	4060	7676											
SETD7	80854	broad.mit.edu	37	4	140468102	140468102	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:140468102G>A	ENST00000274031.3	-	2	778	c.142C>T	c.(142-144)Cgg>Tgg	p.R48W	SETD7_ENST00000406354.1_Silent_p.D30D|SETD7_ENST00000506866.2_Missense_Mutation_p.R48W|SETD7_ENST00000404104.3_Missense_Mutation_p.R48W	NM_030648.2	NP_085151.1	Q8WTS6	SETD7_HUMAN	SET domain containing (lysine methyltransferase) 7	48					peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	histone-lysine N-methyltransferase activity|p53 binding			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	8	all_hematologic(180;0.156)					AACTTCCCCCGTCCGTTCTTT	0.458													17	70					0	0	1	0	0	A	140468102	G	A	140468102	3	1	81	1	0	0	0	0	1	0	0	0	14190	1144	40	1	986	1	SETD7	4	140468102	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	13710	140468102	50686174	4061	7677											
MAML3	55534	broad.mit.edu	37	4	140641269	140641269	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:140641269G>A	ENST00000509479.2	-	5	3481	c.2625C>T	c.(2623-2625)agC>agT	p.S875S	MGST2_ENST00000515137.1_Intron	NM_018717.4	NP_061187	Q96JK9	MAML3_HUMAN	mastermind-like 3 (Drosophila)	871	Gln-rich.				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity			breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					TCATGCCTGTGCTCATATTGT	0.582													148	188					0	0	1	0	0	A	140641269	G	A	140641269	2	1	81	1	0	0	0	0	0	0	0	1	9257	1310	46	2		2	MAML3	4	140641269	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	173167	140641269	50513007	4062	7678											
MAML3	55534	broad.mit.edu	37	4	140641415	140641415	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:140641415G>A	ENST00000509479.2	-	5	3335	c.2479C>T	c.(2479-2481)Cgg>Tgg	p.R827W	MGST2_ENST00000515137.1_Intron	NM_018717.4	NP_061187	Q96JK9	MAML3_HUMAN	mastermind-like 3 (Drosophila)	823	Gln-rich.				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity			breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					GCCATCAGCCGTGACGTTCGC	0.587													37	57					0	0	1	0	0	A	140641415	G	A	140641415	3	1	81	1	0	0	0	0	1	0	0	0	9257	1144	40	1	941	1	MAML3	4	140641415	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	146	140641415	50512861	4063	7679											
MAML3	55534	broad.mit.edu	37	4	140810384	140810384	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:140810384G>T	ENST00000398940.1	-	5	783	c.784C>A	c.(784-786)Cct>Act	p.P262T	MAML3_ENST00000509479.2_Intron|MAML3_ENST00000327122.5_Intron			Q96JK9	MAML3_HUMAN	mastermind-like 3 (Drosophila)	0					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity			breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					ACTACCTGAGGATGTGTAAAG	0.433													28	50					1.39806e-14	1.77612e-14	1	1	0	T	140810384	G	T	140810384	3	4	81	1	0	0	0	0	1	0	0	0	9257	1189	41	5		5	MAML3	4	140810384	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	168969	140810384	50343892	4064	7680											
MAML3	55534	broad.mit.edu	37	4	140810709	140810709	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:140810709G>T	ENST00000509479.2	-	2	2737	c.1881C>A	c.(1879-1881)ccC>ccA	p.P627P	MAML3_ENST00000398940.1_Silent_p.P155P|MAML3_ENST00000327122.5_Silent_p.P471P	NM_018717.4	NP_061187	Q96JK9	MAML3_HUMAN	mastermind-like 3 (Drosophila)	623	Gln-rich.				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity			breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					ACGGCATCAAGGGGTTTTTGT	0.562													7	120					0.00198382	0.00209725	1	1	0	T	140810709	G	T	140810709	2	4	81	1	0	0	0	0	0	0	0	1	9257	987	35	4		4	MAML3	4	140810709	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	325	140810709	50343567	4065	7681											
MAML3	55534	broad.mit.edu	37	4	140811295	140811295	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:140811295G>T	ENST00000509479.2	-	2	2151	c.1295C>A	c.(1294-1296)cCt>cAt	p.P432H	MAML3_ENST00000327122.5_Missense_Mutation_p.P276H	NM_018717.4	NP_061187	Q96JK9	MAML3_HUMAN	mastermind-like 3 (Drosophila)	432					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity			breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					TCCAGGCCGAGGTGGAGCTTG	0.597													5	54					0.184627	0.18622	1	1	0	T	140811295	G	T	140811295	3	4	81	1	0	0	0	0	1	0	0	0	9257	1000	35	4	2129	4	MAML3	4	140811295	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	586	140811295	50342981	4066	7682											
MAML3	55534	broad.mit.edu	37	4	140811770	140811770	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:140811770G>T	ENST00000509479.2	-	2	1676	c.820C>A	c.(820-822)Ctc>Atc	p.L274I	MAML3_ENST00000327122.5_Missense_Mutation_p.L118I	NM_018717.4	NP_061187	Q96JK9	MAML3_HUMAN	mastermind-like 3 (Drosophila)	274					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity			breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					TCTTGTTTGAGGTCTTTGCTC	0.423													48	96					1.67753e-36	2.24778e-36	1	1	0	T	140811770	G	T	140811770	3	4	81	1	0	0	0	0	1	0	0	0	9257	1000	35	4	2604	4	MAML3	4	140811770	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	475	140811770	50342506	4067	7683											
CLGN	1047	broad.mit.edu	37	4	141320176	141320176	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:141320176G>A	ENST00000325617.5	-	8	1153	c.713C>T	c.(712-714)aCa>aTa	p.T238I	CLGN_ENST00000414773.1_Missense_Mutation_p.T238I|CLGN_ENST00000537281.1_Missense_Mutation_p.T238I	NM_004362.2	NP_004353.1	O14967	CLGN_HUMAN	calmegin	238					protein folding	endoplasmic reticulum membrane|integral to membrane	calcium ion binding|unfolded protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(5)|ovary(2)|prostate(3)|skin(4)|urinary_tract(1)	25	all_hematologic(180;0.162)					CACCTCAAATGTGTCATCTGG	0.338													18	35					0	0	1	0	0	A	141320176	G	A	141320176	3	1	81	1	0	0	0	0	1	0	0	0	3547	1377	48	2	1151	2	CLGN	4	141320176	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	508406	141320176	49834100	4068	7684											
ELMOD2	255520	broad.mit.edu	37	4	141446679	141446679	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:141446679C>T	ENST00000323570.3	+	2	229	c.97C>T	c.(97-99)Cga>Tga	p.R33*	ELMOD2_ENST00000511887.2_Nonsense_Mutation_p.R33*	NM_153702.3	NP_714913.1	Q8IZ81	ELMD2_HUMAN	ELMO/CED-12 domain containing 2	33					phagocytosis|regulation of defense response to virus|response to virus	cytoskeleton	GTPase activator activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	7	all_hematologic(180;0.162)					TGAATTGCAGCGAATATTTGA	0.343													37	64					0	0	1	0	0	T	141446679	C	T	141446679	4	4	81	1	0	0	0	0	0	1	0	0	5097	760	27	1	99	1	ELMOD2	4	141446679	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	126503	141446679	49707597	4069	7685											
TBC1D9	23158	broad.mit.edu	37	4	141600336	141600336	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:141600336A>G	ENST00000442267.2	-	5	685	c.611T>C	c.(610-612)gTa>gCa	p.V204A		NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	204	GRAM 1.					intracellular	calcium ion binding|Rab GTPase activator activity			endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				AGTGATGTCTACCCACCGGAT	0.488													38	54					0	0	1	0	0	G	141600336	A	G	141600336	3	3	81	1	0	0	0	0	1	0	0	0	15687	391	14	3	3257	3	TBC1D9	4	141600336	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	153657	141600336	49553940	4070	7686											
RNF150	57484	broad.mit.edu	37	4	141832381	141832381	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:141832381G>T	ENST00000515673.2	-	6	1148	c.1115C>A	c.(1114-1116)gCt>gAt	p.A372D	RNF150_ENST00000507500.1_Missense_Mutation_p.A372D|RNF150_ENST00000379512.2_Missense_Mutation_p.A231D|RNF150_ENST00000306799.3_Missense_Mutation_p.A330D|RNF150_ENST00000420921.2_Missense_Mutation_p.A231D			Q9ULK6	RN150_HUMAN	ring finger protein 150							integral to membrane	zinc ion binding			breast(1)|large_intestine(10)|lung(7)|ovary(1)	19	all_hematologic(180;0.162)					AGTCCGGACAGCAGGGTCCAA	0.557													28	37					2.65835e-16	3.41045e-16	1	1	0	T	141832381	G	T	141832381	3	4	81	1	0	0	0	0	1	0	0	0	13503	971	34	4	209	4	RNF150	4	141832381	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	232045	141832381	49321895	4071	7687											
RNF150	57484	broad.mit.edu	37	4	141832500	141832500	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:141832500G>A	ENST00000515673.2	-	6	1029	c.996C>T	c.(994-996)gcC>gcT	p.A332A	RNF150_ENST00000507500.1_Silent_p.A332A|RNF150_ENST00000379512.2_Silent_p.A191A|RNF150_ENST00000306799.3_Silent_p.A290A|RNF150_ENST00000420921.2_Silent_p.A191A			Q9ULK6	RN150_HUMAN	ring finger protein 150							integral to membrane	zinc ion binding			breast(1)|large_intestine(10)|lung(7)|ovary(1)	19	all_hematologic(180;0.162)					CCATGCAGTCGGCATTGGGCT	0.478													10	18					0	0	1	0	0	A	141832500	G	A	141832500	2	1	81	1	0	0	0	0	0	0	0	1	13503	1103	39	1		1	RNF150	4	141832500	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	119	141832500	49321776	4072	7688											
ZNF330	27309	broad.mit.edu	37	4	142151400	142151400	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:142151400G>A	ENST00000262990.4	+	7	727	c.499G>A	c.(499-501)Gtt>Att	p.V167I	ZNF330_ENST00000421169.2_Missense_Mutation_p.V107I	NM_014487.4	NP_055302.1	Q9Y3S2	ZN330_HUMAN	zinc finger protein 330	167						chromosome, centromeric region|midbody|nucleolus	protein binding|zinc ion binding			kidney(1)|large_intestine(4)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	14	all_hematologic(180;0.162)					CAGCTGCCAGGTTTTAGAGGC	0.308													30	44					0	0	1	0	0	A	142151400	G	A	142151400	3	1	81	1	0	0	0	0	1	0	0	0	17905	1261	44	2	521	2	ZNF330	4	142151400	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	318900	142151400	49002876	4073	7689											
IL15	3600	broad.mit.edu	37	4	142653933	142653934	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:142653933_142653934insA	ENST00000477265.1	+	7	5348_5349	c.340_341insA	c.(340-342)gaafs	p.E114fs	IL15_ENST00000394159.1_Frame_Shift_Ins_p.E114fs|IL15_ENST00000514653.1_Frame_Shift_Ins_p.E114fs|IL15_ENST00000296545.7_Frame_Shift_Ins_p.E141fs|IL15_ENST00000529613.1_Frame_Shift_Ins_p.E141fs|IL15_ENST00000320650.4_Frame_Shift_Ins_p.E141fs			P40933	IL15_HUMAN	interleukin 15	141					cell-cell signaling|immune response|positive regulation of interleukin-17 production	endosome|extracellular space|Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	cytokine activity|cytokine receptor binding|signal transducer activity			kidney(1)|large_intestine(1)|lung(2)|stomach(1)	5	all_hematologic(180;0.158)					GGAACTGGAGGAAAAAAATATT	0.272													26	82	---	---	---	---						A	142653934	-	A	142653933	7	5	81	1	0	1	1	0	0	0	0	0	7675	1175	41	0	443	0	IL15	4	142653933	Frame_Shift_Ins	INS	-	TCGA-DU-6392-01A-11D-1705-08	502533	142653933	48500343	4074	7690											
INPP4B	8821	broad.mit.edu	37	4	143044465	143044465	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:143044465T>C	ENST00000513000.1	-	21	2430	c.1997A>G	c.(1996-1998)gAa>gGa	p.E666G	INPP4B_ENST00000262992.4_Missense_Mutation_p.E666G|INPP4B_ENST00000509777.1_Missense_Mutation_p.E666G|INPP4B_ENST00000308502.4_Missense_Mutation_p.E666G|INPP4B_ENST00000508116.1_Missense_Mutation_p.E666G	NM_003866.2	NP_003857.2	O15327	INP4B_HUMAN	inositol polyphosphate-4-phosphatase, type II, 105kDa	666					signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(29)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58	all_hematologic(180;0.158)					TAGCAGTCCTTCATATTGTAC	0.363													5	79					0	0	1	0	0	C	143044465	T	C	143044465	3	2	81	1	0	0	0	0	1	0	0	0	7797	1783	62	3	805	3	INPP4B	4	143044465	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	390532	143044465	48109811	4075	7691											
INPP4B	8821	broad.mit.edu	37	4	143159150	143159150	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:143159150C>A	ENST00000513000.1	-	13	1136	c.703G>T	c.(703-705)Gta>Tta	p.V235L	INPP4B_ENST00000262992.4_Missense_Mutation_p.V235L|INPP4B_ENST00000509777.1_Missense_Mutation_p.V235L|INPP4B_ENST00000308502.4_Missense_Mutation_p.V235L|INPP4B_ENST00000508116.1_Missense_Mutation_p.V235L	NM_003866.2	NP_003857.2	O15327	INP4B_HUMAN	inositol polyphosphate-4-phosphatase, type II, 105kDa	235					signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(29)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58	all_hematologic(180;0.158)					AATTTACATACTGGGTTCTTT	0.313													10	13					3.07112e-06	3.5041e-06	1	1	0	A	143159150	C	A	143159150	3	1	81	1	0	0	0	0	1	0	0	0	7797	565	20	4	2131	4	INPP4B	4	143159150	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	114685	143159150	47995126	4076	7692											
SMARCA5	8467	broad.mit.edu	37	4	144445597	144445597	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:144445597C>T	ENST00000283131.3	+	4	959	c.497C>T	c.(496-498)aCt>aTt	p.T166I		NM_003601.3	NP_003592.3	O60264	SMCA5_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5	166					CenH3-containing nucleosome assembly at centromere|nucleosome positioning|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	condensed chromosome|nucleolus|nucleoplasm|NURF complex|RSF complex	ATP binding|ATPase activity|DNA binding|helicase activity|nucleosome binding|protein binding		EWSR1/SMARCA5(2)	endometrium(2)|kidney(2)|large_intestine(9)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(180;0.158)					AATGTTTGCACTCGATTTGAA	0.358													16	39					0	0	1	0	0	T	144445597	C	T	144445597	3	4	81	1	0	0	0	0	1	0	0	0	14825	565	20	2	511	2	SMARCA5	4	144445597	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1286447	144445597	46708679	4077	7693											
SMARCA5	8467	broad.mit.edu	37	4	144457707	144457707	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:144457707T>C	ENST00000283131.3	+	11	1833	c.1371T>C	c.(1369-1371)tgT>tgC	p.C457C		NM_003601.3	NP_003592.3	O60264	SMCA5_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5	457					CenH3-containing nucleosome assembly at centromere|nucleosome positioning|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	condensed chromosome|nucleolus|nucleoplasm|NURF complex|RSF complex	ATP binding|ATPase activity|DNA binding|helicase activity|nucleosome binding|protein binding		EWSR1/SMARCA5(2)	endometrium(2)|kidney(2)|large_intestine(9)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(180;0.158)					GAAAATGTTGTAATCATCCAT	0.378													5	59					0	0	1	0	0	C	144457707	T	C	144457707	2	2	81	1	0	0	0	0	0	0	0	1	14825	1644	57	3		3	SMARCA5	4	144457707	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	12110	144457707	46696569	4078	7694											
SMARCA5	8467	broad.mit.edu	37	4	144465101	144465101	+	Silent	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:144465101A>T	ENST00000283131.3	+	16	2610	c.2148A>T	c.(2146-2148)ggA>ggT	p.G716G		NM_003601.3	NP_003592.3	O60264	SMCA5_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5	716					CenH3-containing nucleosome assembly at centromere|nucleosome positioning|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	condensed chromosome|nucleolus|nucleoplasm|NURF complex|RSF complex	ATP binding|ATPase activity|DNA binding|helicase activity|nucleosome binding|protein binding		EWSR1/SMARCA5(2)	endometrium(2)|kidney(2)|large_intestine(9)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(180;0.158)					ACTTCGAAGGAGAAGACTATA	0.333													10	79					0	0	1	0	0	T	144465101	A	T	144465101	2	4	81	1	0	0	0	0	0	0	0	1	14825	291	11	5		5	SMARCA5	4	144465101	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	7394	144465101	46689175	4079	7695											
HHIP	64399	broad.mit.edu	37	4	145573764	145573764	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:145573764C>A	ENST00000296575.3	+	2	942	c.287C>A	c.(286-288)tCt>tAt	p.S96Y	HHIP_ENST00000511314.1_3'UTR|HHIP-AS1_ENST00000512359.1_RNA|HHIP_ENST00000434550.2_Missense_Mutation_p.S96Y	NM_022475.2	NP_071920.1	Q96QV1	HHIP_HUMAN	hedgehog interacting protein	96						cytoplasm|extracellular region	catalytic activity|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0185)		CAGATATTTTCTGTTACCAAC	0.343													15	49					1.02788e-11	1.2764e-11	1	1	0	A	145573764	C	A	145573764	3	1	81	1	0	0	0	0	1	0	0	0	7133	913	32	4	293	4	HHIP	4	145573764	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1108663	145573764	45580512	4080	7696											
HHIP	64399	broad.mit.edu	37	4	145635498	145635498	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:145635498T>C	ENST00000296575.3	+	9	2200	c.1545T>C	c.(1543-1545)aaT>aaC	p.N515N		NM_022475.2	NP_071920.1	Q96QV1	HHIP_HUMAN	hedgehog interacting protein	515						cytoplasm|extracellular region	catalytic activity|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0185)		GAGATCGTAATGGGTAGGTTT	0.388													15	28					0	0	1	0	0	C	145635498	T	C	145635498	2	2	81	1	0	0	0	0	0	0	0	1	7133	1461	51	3		3	HHIP	4	145635498	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	61734	145635498	45518778	4081	7697											
ANAPC10	10393	broad.mit.edu	37	4	145916607	145916607	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:145916607T>C	ENST00000507656.1	-	5	569	c.476A>G	c.(475-477)tAc>tGc	p.Y159C	ANAPC10_ENST00000510270.1_5'UTR|ANAPC10_ENST00000451299.2_Missense_Mutation_p.Y159C|ANAPC10_ENST00000309439.5_Missense_Mutation_p.Y159C	NM_001256706.1	NP_001243635.1	Q9UM13	APC10_HUMAN	anaphase promoting complex subunit 10	159	DOC.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	ubiquitin-protein ligase activity			endometrium(1)|large_intestine(3)|lung(1)|skin(1)	6	all_hematologic(180;0.151)					TACTGGTGTGTATATTTTAAT	0.358													41	84					0	0	1	0	0	C	145916607	T	C	145916607	3	2	81	1	0	0	0	0	1	0	0	0	595	1638	57	3	85	3	ANAPC10	4	145916607	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	281109	145916607	45237669	4082	7698											
ABCE1	6059	broad.mit.edu	37	4	146042358	146042358	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:146042358G>A	ENST00000296577.4	+	12	1692	c.1177G>A	c.(1177-1179)Gct>Act	p.A393T	ABCE1_ENST00000502803.1_3'UTR|OTUD4_ENST00000455611.2_Intron	NM_001040876.1|NM_002940.2	NP_001035809.1|NP_002931.2	P61221	ABCE1_HUMAN	ATP-binding cassette, sub-family E (OABP), member 1	393	ABC transporter 2.				interspecies interaction between organisms|response to virus|RNA catabolic process	mitochondrion	ATP binding|ATPase activity|electron carrier activity|iron-sulfur cluster binding|ribonuclease inhibitor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|lung(5)|prostate(2)|skin(3)	18	all_hematologic(180;0.151)					CAGAATGCTTGCTGGAAGACT	0.363													6	118					0	0	1	0	0	A	146042358	G	A	146042358	3	1	81	1	0	0	0	0	1	0	0	0	64	1319	46	2	1219	2	ABCE1	4	146042358	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	125751	146042358	45111918	4083	7699											
ABCE1	6059	broad.mit.edu	37	4	146044650	146044651	+	Frame_Shift_Ins	INS	-	-	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:146044650_146044651insG	ENST00000296577.4	+	16	2053_2054	c.1538_1539insG	c.(1537-1542)aagacafs	p.T514fs	OTUD4_ENST00000455611.2_Intron	NM_001040876.1|NM_002940.2	NP_001035809.1|NP_002931.2	P61221	ABCE1_HUMAN	ATP-binding cassette, sub-family E (OABP), member 1	514	ABC transporter 2.				interspecies interaction between organisms|response to virus|RNA catabolic process	mitochondrion	ATP binding|ATPase activity|electron carrier activity|iron-sulfur cluster binding|ribonuclease inhibitor activity	p.K513R(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|lung(5)|prostate(2)|skin(3)	18	all_hematologic(180;0.151)					CATGCAAAAAAGACAGCCTTTG	0.371													22	38	---	---	---	---						G	146044651	-	G	146044650	7	5	81	1	0	1	1	0	0	0	0	0	64	72	3	0	1596	0	ABCE1	4	146044650	Frame_Shift_Ins	INS	-	TCGA-DU-6392-01A-11D-1705-08	2292	146044650	45109626	4084	7700											
OTUD4	54726	broad.mit.edu	37	4	146059313	146059313	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:146059313C>T	ENST00000454497.2	-	21	2556	c.2419G>A	c.(2419-2421)Gaa>Aaa	p.E807K	OTUD4_ENST00000455611.2_Intron|OTUD4_ENST00000447906.2_Missense_Mutation_p.E872K	NM_001102653.1	NP_001096123.1	Q01804	OTUD4_HUMAN	OTU domain containing 4	871							protein binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					ACTGGATTTTCTATGAATCCC	0.433													21	27					0	0	1	0	0	T	146059313	C	T	146059313	3	4	81	1	0	0	0	0	1	0	0	0	11361	922	32	2	734	2	OTUD4	4	146059313	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	14663	146059313	45094963	4085	7701											
OTUD4	54726	broad.mit.edu	37	4	146067419	146067419	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:146067419G>A	ENST00000454497.2	-	14	1364	c.1227C>T	c.(1225-1227)tcC>tcT	p.S409S	OTUD4_ENST00000455611.2_5'UTR|OTUD4_ENST00000447906.2_Splice_Site_p.S474S	NM_001102653.1	NP_001096123.1	Q01804	OTUD4_HUMAN	OTU domain containing 4	473							protein binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					TCATACATACGGAAAGGGCTG	0.373													16	43					0	0	1	0	0	A	146067419	G	A	146067419	5	1	81	1	0	0	0	0	0	0	1	0	11361	1130	39	1	1954	1	OTUD4	4	146067419	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	8106	146067419	45086857	4086	7702											
OTUD4	54726	broad.mit.edu	37	4	146092833	146092833	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:146092833C>T	ENST00000454497.2	-	3	225	c.88G>A	c.(88-90)Gaa>Aaa	p.E30K	OTUD4_ENST00000455611.2_5'UTR|OTUD4_ENST00000509620.2_Missense_Mutation_p.E30K|OTUD4_ENST00000447906.2_Missense_Mutation_p.E95K|OTUD4_ENST00000296579.6_Missense_Mutation_p.E30K	NM_001102653.1	NP_001096123.1	Q01804	OTUD4_HUMAN	OTU domain containing 4	95							protein binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					TGTGGATTTTCCAAACGCTTT	0.254													10	25					0	0	1	0	0	T	146092833	C	T	146092833	3	4	81	1	0	0	0	0	1	0	0	0	11361	864	30	2	3141	2	OTUD4	4	146092833	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	25414	146092833	45061443	4087	7703											
SMAD1	4086	broad.mit.edu	37	4	146435905	146435905	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:146435905C>T	ENST00000515385.1	+	2	682	c.140C>T	c.(139-141)gCc>gTc	p.A47V	SMAD1_ENST00000302085.4_Missense_Mutation_p.A47V|SMAD1_ENST00000394092.2_Missense_Mutation_p.A47V|RP11-301H24.4_ENST00000513542.1_RNA			Q15797	SMAD1_HUMAN	SMAD family member 1	47	MH1.				BMP signaling pathway|embryonic pattern specification|primary miRNA processing|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway	cytosol|integral to membrane|nuclear inner membrane	co-SMAD binding|I-SMAD binding|identical protein binding|protein kinase binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity			endometrium(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	17	all_hematologic(180;0.151)					AAGAAAGGTGCCATGGAGGAA	0.512													16	17					0	0	1	0	0	T	146435905	C	T	146435905	3	4	81	1	0	0	0	0	1	0	0	0	14811	739	26	2	142	2	SMAD1	4	146435905	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	343072	146435905	44718371	4088	7704											
SMAD1	4086	broad.mit.edu	37	4	146475083	146475083	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:146475083T>A	ENST00000515385.1	+	6	1687	c.1145T>A	c.(1144-1146)aTt>aAt	p.I382N	SMAD1_ENST00000302085.4_Missense_Mutation_p.I382N|SMAD1_ENST00000394092.2_Missense_Mutation_p.I382N			Q15797	SMAD1_HUMAN	SMAD family member 1	382	MH2.				BMP signaling pathway|embryonic pattern specification|primary miRNA processing|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway	cytosol|integral to membrane|nuclear inner membrane	co-SMAD binding|I-SMAD binding|identical protein binding|protein kinase binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity			endometrium(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	17	all_hematologic(180;0.151)					AGTCTGAAAATTTTTAACAAC	0.398													12	111					0	0	1	0	0	A	146475083	T	A	146475083	3	1	81	1	0	0	0	0	1	0	0	0	14811	1493	52	4	1163	4	SMAD1	4	146475083	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	39178	146475083	44679193	4089	7705											
ZNF827	152485	broad.mit.edu	37	4	146824126	146824126	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:146824126C>A	ENST00000508784.1	-	2	512	c.285G>T	c.(283-285)ctG>ctT	p.L95L	ZNF827_ENST00000379448.4_Silent_p.L95L|ZNF827_ENST00000513320.1_Intron			Q17R98	ZN827_HUMAN	zinc finger protein 827	95					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	all_hematologic(180;0.151)					CTTGACACTGCAGTGAGTCTC	0.602													18	24					0.006122	0.00641144	1	1	0	A	146824126	C	A	146824126	2	1	81	1	0	0	0	0	0	0	0	1	18227	697	25	5		5	ZNF827	4	146824126	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	349043	146824126	44330150	4090	7706											
SLC10A7	84068	broad.mit.edu	37	4	147215246	147215246	+	Splice_Site	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:147215246A>G	ENST00000432059.2	-	7	764	c.518T>C	c.(517-519)aTt>aCt	p.I173T	SLC10A7_ENST00000264986.3_3'UTR|SLC10A7_ENST00000335472.7_Splice_Site_p.I186T|SLC10A7_ENST00000507030.1_Splice_Site_p.I186T|SLC10A7_ENST00000394062.3_Splice_Site_p.I186T			Q0GE19	NTCP7_HUMAN	solute carrier family 10, member 7	186						integral to membrane	bile acid:sodium symporter activity			endometrium(1)|kidney(3)|large_intestine(3)|lung(8)|skin(1)	16	all_hematologic(180;0.151)					TCTTCGGACAATCTGAAATAC	0.423													5	36					0	0	1	0	0	G	147215246	A	G	147215246	5	3	81	1	0	0	0	0	0	0	1	0	14434	115	4	3	485	3	SLC10A7	4	147215246	Splice_Site	SNP	A	TCGA-DU-6392-01A-11D-1705-08	391120	147215246	43939030	4091	7707											
TTC29	83894	broad.mit.edu	37	4	147741308	147741308	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:147741308C>T	ENST00000513335.1	-	11	1347	c.1148G>A	c.(1147-1149)aGt>aAt	p.S383N	TTC29_ENST00000398886.4_Missense_Mutation_p.S383N|TTC29_ENST00000325106.4_Missense_Mutation_p.S357N			Q8NA56	TTC29_HUMAN	tetratricopeptide repeat domain 29	357							binding			breast(2)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					AAGCATTGTACTTGCTCTCAC	0.338													5	88					0	0	1	0	0	T	147741308	C	T	147741308	3	4	81	1	0	0	0	0	1	0	0	0	16758	565	20	2	373	2	TTC29	4	147741308	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	526062	147741308	43412968	4092	7708											
TTC29	83894	broad.mit.edu	37	4	147824791	147824791	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:147824791T>A	ENST00000513335.1	-	7	768	c.569A>T	c.(568-570)gAa>gTa	p.E190V	TTC29_ENST00000398886.4_Missense_Mutation_p.E190V|TTC29_ENST00000325106.4_Missense_Mutation_p.E164V			Q8NA56	TTC29_HUMAN	tetratricopeptide repeat domain 29	164							binding			breast(2)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					AAAACATCGTTCATAGAAGTG	0.413													13	18					0	0	1	0	0	A	147824791	T	A	147824791	3	1	81	1	0	0	0	0	1	0	0	0	16758	1783	62	5	968	5	TTC29	4	147824791	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	83483	147824791	43329485	4093	7709											
TMEM184C	55751	broad.mit.edu	37	4	148546069	148546069	+	Missense_Mutation	SNP	C	C	T	rs142288581		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:148546069C>T	ENST00000296582.3	+	4	980	c.406C>T	c.(406-408)Cgg>Tgg	p.R136W	TMEM184C_ENST00000508208.1_Missense_Mutation_p.R136W	NM_018241.2	NP_060711.2	Q9NVA4	T184C_HUMAN	transmembrane protein 184C	136						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(2)|prostate(1)	16						TCTAACTAACCGGTATCCAAA	0.383													47	63					0	0	1	0	0	T	148546069	C	T	148546069	3	4	81	1	0	0	0	0	1	0	0	0	16166	643	23	1	420	1	TMEM184C	4	148546069	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	721278	148546069	42608207	4094	7710											
TMEM184C	55751	broad.mit.edu	37	4	148555495	148555495	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:148555495T>C	ENST00000296582.3	+	10	1801	c.1227T>C	c.(1225-1227)acT>acC	p.T409T	TMEM184C_ENST00000508208.1_Intron	NM_018241.2	NP_060711.2	Q9NVA4	T184C_HUMAN	transmembrane protein 184C	409						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(2)|prostate(1)	16						CTCCCCAGACTACACCTACCA	0.423													14	73					0	0	1	0	0	C	148555495	T	C	148555495	2	2	81	1	0	0	0	0	0	0	0	1	16166	1509	53	3		3	TMEM184C	4	148555495	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	9426	148555495	42598781	4095	7711											
PRMT10	90826	broad.mit.edu	37	4	148579097	148579097	+	Silent	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:148579097A>T	ENST00000322396.6	-	8	1418	c.1176T>A	c.(1174-1176)ccT>ccA	p.P392P	PRMT10_ENST00000541232.1_Silent_p.P279P|TMEM184C_ENST00000508208.1_Intron	NM_138364.2	NP_612373.2	Q6P2P2	ANM10_HUMAN	protein arginine methyltransferase 10 (putative)	392						cytoplasm	binding|protein methyltransferase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28						CAATCTTATCAGGCTTTTTAG	0.328													5	18					0	0	1	0	0	T	148579097	A	T	148579097	2	4	81	1	0	0	0	0	0	0	0	1	12588	175	7	5		5	PRMT10	4	148579097	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	23602	148579097	42575179	4096	7712											
PRMT10	90826	broad.mit.edu	37	4	148591866	148591866	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:148591866C>T	ENST00000322396.6	-	5	1014	c.772G>A	c.(772-774)Gat>Aat	p.D258N	PRMT10_ENST00000541232.1_Missense_Mutation_p.D145N|TMEM184C_ENST00000508208.1_Intron	NM_138364.2	NP_612373.2	Q6P2P2	ANM10_HUMAN	protein arginine methyltransferase 10 (putative)	258						cytoplasm	binding|protein methyltransferase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28						AAACCTGCATCGACAGTTTCT	0.328													32	56					0	0	1	0	0	T	148591866	C	T	148591866	3	4	81	1	0	0	0	0	1	0	0	0	12588	884	31	1	1797	1	PRMT10	4	148591866	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	12769	148591866	42562410	4097	7713											
ARHGAP10	79658	broad.mit.edu	37	4	148886181	148886181	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:148886181G>A	ENST00000336498.3	+	17	1696	c.1457G>A	c.(1456-1458)gGc>gAc	p.G486D	ARHGAP10_ENST00000414545.2_Missense_Mutation_p.G135D	NM_024605.3	NP_078881.3	A1A4S6	RHG10_HUMAN	Rho GTPase activating protein 10	486	Rho-GAP.				apoptosis|filopodium assembly|regulation of apoptosis|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm|plasma membrane	cytoskeletal adaptor activity|SH3 domain binding			autonomic_ganglia(2)|endometrium(5)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33	all_hematologic(180;0.151)	Renal(17;0.0166)		GBM - Glioblastoma multiforme(119;0.0423)		GAAGAAAGCGGCAGCCCAGAA	0.308													6	43					0	0	1	0	0	A	148886181	G	A	148886181	3	1	81	1	0	0	0	0	1	0	0	0	859	1203	42	2	1523	2	ARHGAP10	4	148886181	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	294315	148886181	42268095	4098	7714											
MAB21L2	10586	broad.mit.edu	37	4	151504852	151504852	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:151504852C>T	ENST00000317605.4	+	1	1776	c.671C>T	c.(670-672)tCg>tTg	p.S224L	LRBA_ENST00000535741.1_Intron|LRBA_ENST00000507224.1_Intron|LRBA_ENST00000357115.3_Intron|LRBA_ENST00000510413.1_Intron	NM_006439.4	NP_006430.1	Q9Y586	MB212_HUMAN	mab-21-like 2 (C. elegans)	224					nervous system development	nucleus				breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(2)	21	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.159)		AAGCAGAGCTCGGCAGAGAGC	0.637													24	24					0	0	1	0	0	T	151504852	C	T	151504852	3	4	81	1	0	0	0	0	1	0	0	0	9188	893	31	1	673	1	MAB21L2	4	151504852	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2618671	151504852	39649424	4099	7715											
MAB21L2	10586	broad.mit.edu	37	4	151504913	151504913	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:151504913C>T	ENST00000317605.4	+	1	1837	c.732C>T	c.(730-732)ggC>ggT	p.G244G	LRBA_ENST00000535741.1_Intron|LRBA_ENST00000507224.1_Intron|LRBA_ENST00000357115.3_Intron|LRBA_ENST00000510413.1_Intron	NM_006439.4	NP_006430.1	Q9Y586	MB212_HUMAN	mab-21-like 2 (C. elegans)	244					nervous system development	nucleus				breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(2)	21	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.159)		TGCTGATGGGCGGCTGCCGAA	0.637													7	24					0	0	1	0	0	T	151504913	C	T	151504913	2	4	81	1	0	0	0	0	0	0	0	1	9188	755	27	1		1	MAB21L2	4	151504913	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	61	151504913	39649363	4100	7716											
LRBA	987	broad.mit.edu	37	4	151749600	151749600	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:151749600C>A	ENST00000535741.1	-	30	5376	c.4903G>T	c.(4903-4905)Gat>Tat	p.D1635Y	LRBA_ENST00000507224.1_Missense_Mutation_p.D1635Y|LRBA_ENST00000357115.3_Missense_Mutation_p.D1635Y|LRBA_ENST00000510413.1_Missense_Mutation_p.D1635Y			P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	1635						endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					CTGATTGCATCTGGGCCTGCA	0.483													95	115					1.55521e-42	2.0896e-42	1	1	0	A	151749600	C	A	151749600	3	1	81	1	0	0	0	0	1	0	0	0	8976	913	32	4	3804	4	LRBA	4	151749600	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	244687	151749600	39404676	4101	7717											
LRBA	987	broad.mit.edu	37	4	151791759	151791759	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:151791759C>A	ENST00000535741.1	-	20	2841		c.e20-1		LRBA_ENST00000507224.1_Splice_Site|LRBA_ENST00000357115.3_Splice_Site|LRBA_ENST00000510413.1_Splice_Site			P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing							endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					CTATAAGAATCTACAGAAGTA	0.313													5	62					0.000602214	0.000646338	1	1	0	A	151791759	C	A	151791759	5	1	81	1	0	0	0	0	0	0	1	0	8976	927	32	4	6380	4	LRBA	4	151791759	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	42159	151791759	39362517	4102	7718											
LRBA	987	broad.mit.edu	37	4	151829607	151829607	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:151829607C>T	ENST00000535741.1	-	11	1845	c.1372G>A	c.(1372-1374)Gtt>Att	p.V458I	LRBA_ENST00000507224.1_Missense_Mutation_p.V458I|LRBA_ENST00000357115.3_Missense_Mutation_p.V458I|LRBA_ENST00000510413.1_Missense_Mutation_p.V458I			P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	458						endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					TGTGTTAAAACTGCCTTTACA	0.328													8	26					0	0	1	0	0	T	151829607	C	T	151829607	3	4	81	1	0	0	0	0	1	0	0	0	8976	565	20	2	7411	2	LRBA	4	151829607	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	37848	151829607	39324669	4103	7719											
SH3D19	152503	broad.mit.edu	37	4	152048841	152048841	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:152048841C>T	ENST00000409598.4	-	19	3283	c.2116G>A	c.(2116-2118)Gta>Ata	p.V706I	SH3D19_ENST00000427414.2_Missense_Mutation_p.V670I|SH3D19_ENST00000424281.1_Missense_Mutation_p.V670I|SH3D19_ENST00000304527.4_Missense_Mutation_p.V729I|SH3D19_ENST00000514152.1_Missense_Mutation_p.V706I|SH3D19_ENST00000409252.2_Missense_Mutation_p.V729I|SH3D19_ENST00000455740.1_Missense_Mutation_p.V706I			Q5HYK7	SH319_HUMAN	SH3 domain containing 19	729	SH3 4.				cellular membrane organization|positive regulation of membrane protein ectodomain proteolysis|post-Golgi vesicle-mediated transport	cytosol|Golgi apparatus|nucleus|plasma membrane	proline-rich region binding			autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(1)|skin(3)|urinary_tract(1)	20	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.138)				CCCTTCGGTACTATGGCCAAC	0.358													17	17					0	0	1	0	0	T	152048841	C	T	152048841	3	4	81	1	0	0	0	0	1	0	0	0	14303	565	20	2	195	2	SH3D19	4	152048841	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	219234	152048841	39105435	4104	7720											
SH3D19	152503	broad.mit.edu	37	4	152070714	152070714	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:152070714C>A	ENST00000409598.4	-	10	2083		c.e10-1		SH3D19_ENST00000427414.2_Splice_Site|SH3D19_ENST00000424281.1_Splice_Site|SH3D19_ENST00000304527.4_Splice_Site|SH3D19_ENST00000514152.1_Splice_Site|SH3D19_ENST00000409252.2_Splice_Site|SH3D19_ENST00000455740.1_Splice_Site			Q5HYK7	SH319_HUMAN	SH3 domain containing 19						cellular membrane organization|positive regulation of membrane protein ectodomain proteolysis|post-Golgi vesicle-mediated transport	cytosol|Golgi apparatus|nucleus|plasma membrane	proline-rich region binding			autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(1)|skin(3)|urinary_tract(1)	20	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.138)				GGTTGGATTCCTGCAAGTAGC	0.408													4	59					1.024e-07	1.20612e-07	1	1	0	A	152070714	C	A	152070714	5	1	81	1	0	0	0	0	0	0	1	0	14303	695	24	4	1505	4	SH3D19	4	152070714	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	21873	152070714	39083562	4105	7721											
FBXW7	55294	broad.mit.edu	37	4	153244280	153244280	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:153244280G>T	ENST00000281708.4	-	12	3106	c.1877C>A	c.(1876-1878)gCt>gAt	p.A626D	FBXW7_ENST00000393956.3_Missense_Mutation_p.A450D|FBXW7_ENST00000263981.5_Missense_Mutation_p.A546D|FBXW7_ENST00000603841.1_Missense_Mutation_p.A626D|FBXW7_ENST00000296555.5_Missense_Mutation_p.A508D|FBXW7_ENST00000603548.1_Missense_Mutation_p.A626D	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	626					interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleoplasm|SCF ubiquitin ligase complex	protein binding	p.?(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				ACAGGTCACAGCACTCTGATG	0.348			"Mis, N, D, F"		"colorectal, endometrial, T-ALL"								10	33					4.68919e-08	5.54405e-08	1	1	0	T	153244280	G	T	153244280	3	4	81	1	0	0	0	0	1	0	0	0	5802	971	34	4	250	4	FBXW7	4	153244280	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1173566	153244280	37909996	4106	7722											
FBXW7	55294	broad.mit.edu	37	4	153303537	153303537	+	Translation_Start_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:153303537C>T	ENST00000296555.5	-	0	130				FBXW7_ENST00000603841.1_Intron|FBXW7_ENST00000603548.1_Intron|FBXW7_ENST00000281708.4_Intron	NM_001013415.1	NP_001013433.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase						interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleoplasm|SCF ubiquitin ligase complex	protein binding			NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				AATACAGGCACATTACTAAAA	0.348			"Mis, N, D, F"		"colorectal, endometrial, T-ALL"								11	18					0	0	1	0	0	T	153303537	C	T	153303537	1	4	81	1	0	0	0	0	0	0	0	0	5802	493	17	2		2	FBXW7	4	153303537	Translation_Start_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	59257	153303537	37850739	4107	7723											
TMEM154	201799	broad.mit.edu	37	4	153573838	153573838	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:153573838T>A	ENST00000304385.3	-	2	537	c.306A>T	c.(304-306)aaA>aaT	p.K102N	TMEM154_ENST00000504064.1_Missense_Mutation_p.K102N	NM_152680.2	NP_689893.1	Q6P9G4	TM154_HUMAN	transmembrane protein 154	102						integral to membrane				kidney(2)|large_intestine(1)	3	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.138)				TTCTTTTTCTTTTATAGTATG	0.303													4	48					0	0	1	0	0	A	153573838	T	A	153573838	3	1	81	1	0	0	0	0	1	0	0	0	16131	1838	64	5	269	5	TMEM154	4	153573838	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	270301	153573838	37580438	4108	7724											
TIGD4	201798	broad.mit.edu	37	4	153691371	153691371	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:153691371G>A	ENST00000304337.2	-	2	1606	c.786C>T	c.(784-786)tcC>tcT	p.S262S		NM_145720.3	NP_663772.1	Q8IY51	TIGD4_HUMAN	tigger transposable element derived 4	262	DDE.				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	chromatin binding|DNA binding			breast(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	26	all_hematologic(180;0.093)					CAAATACATCGGAGGTCATCC	0.408													39	90					0	0	1	0	0	A	153691371	G	A	153691371	2	1	81	1	0	0	0	0	0	0	0	1	15958	1103	39	1		1	TIGD4	4	153691371	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	117533	153691371	37462905	4109	7725											
ARFIP1	27236	broad.mit.edu	37	4	153750877	153750877	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:153750877G>T	ENST00000451320.2	+	2	256	c.92G>T	c.(91-93)aGg>aTg	p.R31M	ARFIP1_ENST00000353617.2_Splice_Site_p.R31M|ARFIP1_ENST00000429148.2_Splice_Site_p.R31M|ARFIP1_ENST00000356064.3_Splice_Site_p.R31M|ARFIP1_ENST00000405727.2_Splice_Site_p.R31M			P53367	ARFP1_HUMAN	ADP-ribosylation factor interacting protein 1	31					intracellular protein transport|regulation of protein secretion	cytosol|Golgi membrane			ARFIP1/FHDC1(2)	cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1)	14	all_hematologic(180;0.093)					AGCTTTAATAGGGTAAGAACA	0.338													8	80					5.18039e-06	5.88187e-06	1	1	0	T	153750877	G	T	153750877	5	4	81	1	0	0	0	0	0	0	1	0	851	1014	35	4	94	4	ARFIP1	4	153750877	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	59506	153750877	37403399	4110	7726											
FHDC1	85462	broad.mit.edu	37	4	153886116	153886116	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:153886116G>A	ENST00000511601.1	+	9	1277	c.1089G>A	c.(1087-1089)caG>caA	p.Q363Q	FHDC1_ENST00000260008.3_Silent_p.Q363Q			Q9C0D6	FHDC1_HUMAN	FH2 domain containing 1	363	FH2.				actin cytoskeleton organization		actin binding		ARFIP1/FHDC1(2)	NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43	all_hematologic(180;0.093)					ATCATGTTCAGAAGACTGCTA	0.303													37	64					0	0	1	0	0	A	153886116	G	A	153886116	2	1	81	1	0	0	0	0	0	0	0	1	5909	933	33	2		2	FHDC1	4	153886116	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	135239	153886116	37268160	4111	7727											
FHDC1	85462	broad.mit.edu	37	4	153896906	153896906	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:153896906C>A	ENST00000511601.1	+	12	2651	c.2463C>A	c.(2461-2463)tcC>tcA	p.S821S	FHDC1_ENST00000260008.3_Silent_p.S821S			Q9C0D6	FHDC1_HUMAN	FH2 domain containing 1	821					actin cytoskeleton organization		actin binding		ARFIP1/FHDC1(2)	NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43	all_hematologic(180;0.093)					GCCAAGTCTCCTCCAACCCTA	0.662													7	87					0.000274275	0.000297259	1	1	0	A	153896906	C	A	153896906	2	1	81	1	0	0	0	0	0	0	0	1	5909	668	24	4		4	FHDC1	4	153896906	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	10790	153896906	37257370	4112	7728											
MND1	84057	broad.mit.edu	37	4	154315439	154315439	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:154315439C>T	ENST00000240488.3	+	5	391	c.302C>T	c.(301-303)gCa>gTa	p.A101V	MND1_ENST00000504860.1_Missense_Mutation_p.A86V	NM_001253861.1|NM_032117.3	NP_001240790.1|NP_115493.1	Q9BWT6	MND1_HUMAN	meiotic nuclear divisions 1 homolog (S. cerevisiae)	101					DNA recombination|meiosis	nucleus	DNA binding			large_intestine(2)|lung(1)	3	all_hematologic(180;0.093)					CAAAAGCATGCAAGCCTACAG	0.333													4	30					0	0	1	0	0	T	154315439	C	T	154315439	3	4	81	1	0	0	0	0	1	0	0	0	9724	710	25	2	320	2	MND1	4	154315439	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	418533	154315439	36838837	4113	7729											
MND1	84057	broad.mit.edu	37	4	154318427	154318427	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:154318427G>A	ENST00000240488.3	+	6	497	c.408G>A	c.(406-408)caG>caA	p.Q136Q	MND1_ENST00000504860.1_Silent_p.Q121Q	NM_001253861.1|NM_032117.3	NP_001240790.1|NP_115493.1	Q9BWT6	MND1_HUMAN	meiotic nuclear divisions 1 homolog (S. cerevisiae)	136					DNA recombination|meiosis	nucleus	DNA binding			large_intestine(2)|lung(1)	3	all_hematologic(180;0.093)					AAAGGGAACAGCTAAAGGCAG	0.373													10	7					0	0	1	0	0	A	154318427	G	A	154318427	2	1	81	1	0	0	0	0	0	0	0	1	9724	962	34	2		2	MND1	4	154318427	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2988	154318427	36835849	4114	7730											
KIAA0922	23240	broad.mit.edu	37	4	154525057	154525057	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:154525057G>A	ENST00000409663.3	+	25	2942	c.2890G>A	c.(2890-2892)Gca>Aca	p.A964T	KIAA0922_ENST00000440693.1_Missense_Mutation_p.A881T|KIAA0922_ENST00000409959.3_Missense_Mutation_p.A965T	NM_015196.3	NP_056011.3	A2VDJ0	T131L_HUMAN	KIAA0922	964						integral to membrane				breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	63	all_hematologic(180;0.093)	Renal(120;0.118)				CCAGAATGCTGCAAAGAGGAG	0.498													5	29					0	0	1	0	0	A	154525057	G	A	154525057	3	1	81	1	0	0	0	0	1	0	0	0	8243	1319	46	2	2991	2	KIAA0922	4	154525057	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	206630	154525057	36629219	4115	7731											
KIAA0922	23240	broad.mit.edu	37	4	154541987	154541987	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:154541987G>A	ENST00000409663.3	+	27	3696	c.3644G>A	c.(3643-3645)cGa>cAa	p.R1215Q	KIAA0922_ENST00000440693.1_Missense_Mutation_p.R1132Q|KIAA0922_ENST00000409959.3_Missense_Mutation_p.R1216Q	NM_015196.3	NP_056011.3	A2VDJ0	T131L_HUMAN	KIAA0922	1215						integral to membrane				breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	63	all_hematologic(180;0.093)	Renal(120;0.118)				AGTAAAAGTCGAACATGTAGA	0.308													36	59					0	0	1	0	0	A	154541987	G	A	154541987	3	1	81	1	0	0	0	0	1	0	0	0	8243	1058	37	1	3753	1	KIAA0922	4	154541987	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	16930	154541987	36612289	4116	7732											
KIAA0922	23240	broad.mit.edu	37	4	154557572	154557572	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:154557572G>A	ENST00000409663.3	+	35	4726	c.4674G>A	c.(4672-4674)tcG>tcA	p.S1558S	KIAA0922_ENST00000440693.1_Silent_p.S1475S|KIAA0922_ENST00000409959.3_Silent_p.S1559S	NM_015196.3	NP_056011.3	A2VDJ0	T131L_HUMAN	KIAA0922	1558						integral to membrane				breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	63	all_hematologic(180;0.093)	Renal(120;0.118)				CGGAACATTCGACCCACATGG	0.522													39	45					0	0	1	0	0	A	154557572	G	A	154557572	2	1	81	1	0	0	0	0	0	0	0	1	8243	1045	37	1		1	KIAA0922	4	154557572	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	15585	154557572	36596704	4117	7733											
TLR2	7097	broad.mit.edu	37	4	154625598	154625598	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:154625598G>A	ENST00000260010.6	+	1	2947	c.1539G>A	c.(1537-1539)acG>acA	p.T513T		NM_003264.3	NP_003255.2	O60603	TLR2_HUMAN	toll-like receptor 2	513					cellular response to diacyl bacterial lipopeptide|cellular response to lipoteichoic acid|cellular response to triacyl bacterial lipopeptide|detection of diacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|I-kappaB phosphorylation|induction of apoptosis|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of interferon-beta production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of Wnt receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytoplasm|integral to plasma membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex	Gram-positive bacterial cell surface binding|lipopolysaccharide receptor activity|peptidoglycan binding|protein heterodimerization activity|transmembrane receptor activity|triacyl lipopeptide binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	29	all_hematologic(180;0.093)	Renal(120;0.117)				CAATAACTACGTTTTCTAAGG	0.393													30	43					0	0	1	0	0	A	154625598	G	A	154625598	2	1	81	1	0	0	0	0	0	0	0	1	16011	1132	40	1		1	TLR2	4	154625598	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	68026	154625598	36528678	4118	7734											
RNF175	285533	broad.mit.edu	37	4	154649450	154649450	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:154649450G>A	ENST00000347063.4	-	4	682	c.310C>T	c.(310-312)Cgg>Tgg	p.R104W	RNF175_ENST00000506505.1_Intron|RNF175_ENST00000274068.4_Intron	NM_173662.2	NP_775933	Q8N4F7	RN175_HUMAN	ring finger protein 175	104						integral to membrane	zinc ion binding			breast(1)|endometrium(1)|large_intestine(5)|lung(1)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	13	all_hematologic(180;0.093)	Renal(120;0.118)				GACAGAAACCGCCACCAGTAT	0.448													37	51					0	0	1	0	0	A	154649450	G	A	154649450	3	1	81	1	0	0	0	0	1	0	0	0	13515	1086	38	1	700	1	RNF175	4	154649450	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	23852	154649450	36504826	4119	7735											
SFRP2	6423	broad.mit.edu	37	4	154709570	154709570	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:154709570G>T	ENST00000274063.4	-	1	702	c.418C>A	c.(418-420)Ctt>Att	p.L140I		NM_003013.2	NP_003004.1	Q96HF1	SFRP2_HUMAN	secreted frizzled-related protein 2	140	FZ.				brain development|cardiac left ventricle morphogenesis|cell-cell signaling|dermatome development|hemopoietic stem cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|negative regulation of cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of transcription, DNA-dependent|outflow tract morphogenesis|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell adhesion mediated by integrin|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of fat cell differentiation|positive regulation of peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of stem cell division|sclerotome development	cytoplasm|extracellular matrix|extracellular space|plasma membrane	fibronectin binding|integrin binding|PDZ domain binding|receptor agonist activity|Wnt receptor activity|Wnt-protein binding			breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(1)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	16	all_hematologic(180;0.093)	Renal(120;0.117)				TCGCACTCAAGCATGTCGGGC	0.642													5	70					0.0381472	0.0389402	1	1	0	T	154709570	G	T	154709570	3	4	81	1	0	0	0	0	1	0	0	0	14216	971	34	4	481	4	SFRP2	4	154709570	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	60120	154709570	36444706	4120	7736											
DCHS2	54798	broad.mit.edu	37	4	155160378	155160378	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:155160378T>G	ENST00000357232.4	-	24	6070	c.6071A>C	c.(6070-6072)aAc>aCc	p.N2024T		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2		Cadherin 18.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		GTAAGAAATGTTCTCATTGCT	0.383													9	42					0	0	1	0	0	G	155160378	T	G	155160378	3	3	81	1	0	0	0	0	1	0	0	0	4311	1725	60	5	2687	5	DCHS2	4	155160378	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	450808	155160378	35993898	4121	7737											
DCHS2	54798	broad.mit.edu	37	4	155219766	155219766	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:155219766G>T	ENST00000357232.4	-	18	4334	c.4335C>A	c.(4333-4335)acC>acA	p.T1445T		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2		Cadherin 12.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		GAATGACAAGGGTAAAATTGC	0.438													37	53					2.51541e-25	3.32695e-25	1	1	0	T	155219766	G	T	155219766	2	4	81	1	0	0	0	0	0	0	0	1	4311	1219	43	5		5	DCHS2	4	155219766	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	59388	155219766	35934510	4122	7738											
DCHS2	54798	broad.mit.edu	37	4	155219800	155219800	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:155219800C>T	ENST00000357232.4	-	18	4300	c.4301G>A	c.(4300-4302)cGt>cAt	p.R1434H		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2		Cadherin 12.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		GTCCAAAGCACGAGTGGTTGA	0.393													5	61					0	0	1	0	0	T	155219800	C	T	155219800	3	4	81	1	0	0	0	0	1	0	0	0	4311	536	19	1	4481	1	DCHS2	4	155219800	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	34	155219800	35934476	4123	7739											
DCHS2	54798	broad.mit.edu	37	4	155242188	155242188	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:155242188C>A	ENST00000357232.4	-	14	2997	c.2998G>T	c.(2998-3000)Gac>Tac	p.D1000Y		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2		Cadherin 8.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		GTTGAGCTGTCTATTTCAAAG	0.348													56	86					5.39261e-20	7.03182e-20	1	1	0	A	155242188	C	A	155242188	3	1	81	1	0	0	0	0	1	0	0	0	4311	913	32	4	5800	4	DCHS2	4	155242188	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	22388	155242188	35912088	4124	7740											
PLRG1	5356	broad.mit.edu	37	4	155463420	155463420	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:155463420C>T	ENST00000499023.2	-	8	732	c.606G>A	c.(604-606)ggG>ggA	p.G202G	PLRG1_ENST00000393905.2_Silent_p.G202G|PLRG1_ENST00000302078.5_Silent_p.G193G	NM_001201564.1|NM_002669.3	NP_001188493.1|NP_002660.1	O43660	PLRG1_HUMAN	pleiotropic regulator 1	202						catalytic step 2 spliceosome|nuclear speck	protein binding|signal transducer activity|transcription corepressor activity	p.G202G(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|skin(1)|urinary_tract(1)	22	all_hematologic(180;0.215)	Renal(120;0.0854)				AGCCAAGATGCCCACTGATAA	0.413													21	26					0	0	1	0	0	T	155463420	C	T	155463420	2	4	81	1	0	0	0	0	0	0	0	1	12154	726	26	2		2	PLRG1	4	155463420	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	221232	155463420	35690856	4125	7741											
PLRG1	5356	broad.mit.edu	37	4	155468979	155468979	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:155468979A>C	ENST00000499023.2	-	3	269	c.143T>G	c.(142-144)cTt>cGt	p.L48R	PLRG1_ENST00000393905.2_Missense_Mutation_p.L48R|PLRG1_ENST00000302078.5_Missense_Mutation_p.L48R	NM_001201564.1|NM_002669.3	NP_001188493.1|NP_002660.1	O43660	PLRG1_HUMAN	pleiotropic regulator 1	48						catalytic step 2 spliceosome|nuclear speck	protein binding|signal transducer activity|transcription corepressor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|skin(1)|urinary_tract(1)	22	all_hematologic(180;0.215)	Renal(120;0.0854)				CTCATTACGAAGCTTGATTGC	0.333													7	53					0	0	1	0	0	C	155468979	A	C	155468979	3	2	81	1	0	0	0	0	1	0	0	0	12154	72	3	5	1453	5	PLRG1	4	155468979	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	5559	155468979	35685297	4126	7742											
FGA	2243	broad.mit.edu	37	4	155505592	155505592	+	Missense_Mutation	SNP	G	G	A	rs150073296	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:155505592G>A	ENST00000302053.3	-	6	2363	c.2285C>T	c.(2284-2286)gCg>gTg	p.A762V		NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	762	Fibrinogen C-terminal.				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	AGCATCACCCGCAGTGCCTTC	0.542													30	58					0	0	1	0	0	A	155505592	G	A	155505592	3	1	81	1	0	0	0	0	1	0	0	0	5863	1087	38	1	319	1	FGA	4	155505592	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	36613	155505592	35648684	4127	7743											
FGA	2243	broad.mit.edu	37	4	155506809	155506809	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:155506809C>A	ENST00000302053.3	-	5	1850	c.1772G>T	c.(1771-1773)aGa>aTa	p.R591I	FGA_ENST00000403106.3_Missense_Mutation_p.R591I	NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	591					platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	GGAGTCTCCTCTGTTGTAACT	0.453													44	65					3.4345e-17	4.42625e-17	1	1	0	A	155506809	C	A	155506809	3	1	81	1	0	0	0	0	1	0	0	0	5863	913	32	4	880	4	FGA	4	155506809	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1217	155506809	35647467	4128	7744											
FGA	2243	broad.mit.edu	37	4	155507082	155507082	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:155507082A>G	ENST00000302053.3	-	5	1577	c.1499T>C	c.(1498-1500)tTg>tCg	p.L500S	FGA_ENST00000403106.3_Missense_Mutation_p.L500S	NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	500					platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	TATGCCAGACAATGTGCCTAA	0.488													8	88					0	0	1	0	0	G	155507082	A	G	155507082	3	3	81	1	0	0	0	0	1	0	0	0	5863	131	5	3	1153	3	FGA	4	155507082	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	273	155507082	35647194	4129	7745											
LRAT	9227	broad.mit.edu	37	4	155665575	155665575	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:155665575G>T	ENST00000336356.3	+	2	350	c.97G>T	c.(97-99)Gac>Tac	p.D33Y	LRAT_ENST00000507827.1_Missense_Mutation_p.D33Y	NM_004744.3	NP_004735.2	O95237	LRAT_HUMAN	lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase)	33					response to stimulus|retinoid metabolic process|steroid metabolic process|visual perception	endoplasmic reticulum membrane|integral to membrane|multivesicular body|perinuclear region of cytoplasm|rough endoplasmic reticulum	phosphatidylcholine-retinol O-acyltransferase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)	16	all_hematologic(180;0.215)	Renal(120;0.0458)			Vitamin A(DB00162)	CGCGGGCGAAGACAAAGGGAG	0.562													28	34					6.12954e-19	7.96923e-19	1	1	0	T	155665575	G	T	155665575	3	4	81	1	0	0	0	0	1	0	0	0	8975	942	33	4	99	4	LRAT	4	155665575	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	158493	155665575	35488701	4130	7746											
LRAT	9227	broad.mit.edu	37	4	155665697	155665697	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:155665697G>A	ENST00000336356.3	+	2	472	c.219G>A	c.(217-219)atG>atA	p.M73I	LRAT_ENST00000507827.1_Missense_Mutation_p.M73I	NM_004744.3	NP_004735.2	O95237	LRAT_HUMAN	lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase)	73					response to stimulus|retinoid metabolic process|steroid metabolic process|visual perception	endoplasmic reticulum membrane|integral to membrane|multivesicular body|perinuclear region of cytoplasm|rough endoplasmic reticulum	phosphatidylcholine-retinol O-acyltransferase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)	16	all_hematologic(180;0.215)	Renal(120;0.0458)			Vitamin A(DB00162)	TTGCCCACATGATGCCCGACA	0.587													4	42					0	0	1	0	0	A	155665697	G	A	155665697	3	1	81	1	0	0	0	0	1	0	0	0	8975	1290	45	2	221	2	LRAT	4	155665697	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	122	155665697	35488579	4131	7747											
LRAT	9227	broad.mit.edu	37	4	155670276	155670276	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:155670276G>A	ENST00000336356.3	+	3	934	c.681G>A	c.(679-681)tgG>tgA	p.W227*	LRAT_ENST00000507827.1_Nonsense_Mutation_p.W227*	NM_004744.3	NP_004735.2	O95237	LRAT_HUMAN	lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase)	227					response to stimulus|retinoid metabolic process|steroid metabolic process|visual perception	endoplasmic reticulum membrane|integral to membrane|multivesicular body|perinuclear region of cytoplasm|rough endoplasmic reticulum	phosphatidylcholine-retinol O-acyltransferase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)	16	all_hematologic(180;0.215)	Renal(120;0.0458)			Vitamin A(DB00162)	TCTTCCTATGGATGGCTGGCT	0.383													54	98					0	0	1	0	0	A	155670276	G	A	155670276	4	1	81	1	0	0	0	0	0	1	0	0	8975	1183	41	2	687	2	LRAT	4	155670276	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	4579	155670276	35484000	4132	7748											
GUCY1A3	2982	broad.mit.edu	37	4	156634624	156634624	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:156634624C>T	ENST00000296518.7	+	7	1670	c.1461C>T	c.(1459-1461)atC>atT	p.I487I	GUCY1A3_ENST00000393832.3_Silent_p.I229I|GUCY1A3_ENST00000511507.1_Silent_p.I487I|GUCY1A3_ENST00000455639.2_Silent_p.I487I|GUCY1A3_ENST00000511108.1_Silent_p.I487I|GUCY1A3_ENST00000506455.1_Silent_p.I487I|GUCY1A3_ENST00000513574.1_Silent_p.I487I			Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3	487	Guanylate cyclase.				blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		TCTCAGACATCGTTGGGTTCA	0.537													17	30					0	0	1	0	0	T	156634624	C	T	156634624	2	4	81	1	0	0	0	0	0	0	0	1	6935	874	31	1		1	GUCY1A3	4	156634624	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	964348	156634624	34519652	4133	7749											
PDGFC	56034	broad.mit.edu	37	4	157688928	157688928	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:157688928G>A	ENST00000502773.1	-	5	1408	c.918C>T	c.(916-918)caC>caT	p.H306H	PDGFC_ENST00000504672.1_5'UTR|PDGFC_ENST00000541126.1_Silent_p.H143H|PDGFC_ENST00000422544.2_Intron|PDGFC_ENST00000542208.1_Silent_p.H151H	NM_016205.2	NP_057289.1	Q9NRA1	PDGFC_HUMAN	platelet derived growth factor C	306					central nervous system development|platelet-derived growth factor receptor signaling pathway|positive regulation of cell division|positive regulation of DNA replication|positive regulation of fibroblast proliferation|vascular endothelial growth factor receptor signaling pathway	endoplasmic reticulum lumen|extracellular space|Golgi membrane|nucleus	cell surface binding|growth factor activity|platelet-derived growth factor receptor binding|protein homodimerization activity			central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.08)|Kidney(143;0.0977)|COAD - Colon adenocarcinoma(41;0.212)		TACCTACCTCGTGGTATTTTT	0.383													23	32					0	0	1	0	0	A	157688928	G	A	157688928	2	1	81	1	0	0	0	0	0	0	0	1	11706	1136	40	1		1	PDGFC	4	157688928	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1054304	157688928	33465348	4134	7750											
GLRB	2743	broad.mit.edu	37	4	158057822	158057822	+	Missense_Mutation	SNP	C	C	T	rs145671356		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:158057822C>T	ENST00000264428.4	+	5	769	c.499C>T	c.(499-501)Cgt>Tgt	p.R167C	GLRB_ENST00000512619.1_Intron|GLRB_ENST00000509282.1_Missense_Mutation_p.R167C|GLRB_ENST00000541722.1_Missense_Mutation_p.R167C	NM_000824.4	NP_000815.1	P48167	GLRB_HUMAN	glycine receptor, beta	167					nervous system development|neuropeptide signaling pathway|startle response	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|protein binding|receptor activity	p.R167C(1)		central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(6)|skin(5)|upper_aerodigestive_tract(1)	27	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707)	Glycine(DB00145)	CTTTATTTTTCGTGATGGAGA	0.318													43	71					0	0	1	0	0	T	158057822	C	T	158057822	3	4	81	1	0	0	0	0	1	0	0	0	6500	884	31	1	513	1	GLRB	4	158057822	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	368894	158057822	33096454	4135	7751											
GRIA2	2891	broad.mit.edu	37	4	158257783	158257783	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:158257783G>T	ENST00000296526.7	+	11	2053	c.1728G>T	c.(1726-1728)gaG>gaT	p.E576D	GRIA2_ENST00000449365.1_Missense_Mutation_p.E529D|GRIA2_ENST00000507898.1_Missense_Mutation_p.E529D|GRIA2_ENST00000393815.2_Missense_Mutation_p.E529D|GRIA2_ENST00000264426.9_Missense_Mutation_p.E576D	NM_000826.3	NP_000817	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	576					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)	ACACTGAGGAGTTTGAAGATG	0.418													11	102					0.00010058	0.000110448	1	1	0	T	158257783	G	T	158257783	3	4	81	1	0	0	0	0	1	0	0	0	6809	1020	36	4	1770	4	GRIA2	4	158257783	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	199961	158257783	32896493	4136	7752											
GRIA2	2891	broad.mit.edu	37	4	158257812	158257812	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:158257812G>T	ENST00000296526.7	+	11	2082	c.1757G>T	c.(1756-1758)aGt>aTt	p.S586I	GRIA2_ENST00000449365.1_Missense_Mutation_p.S539I|GRIA2_ENST00000507898.1_Missense_Mutation_p.S539I|GRIA2_ENST00000393815.2_Missense_Mutation_p.S539I|GRIA2_ENST00000264426.9_Missense_Mutation_p.S586I	NM_000826.3	NP_000817	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	586					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)	ACACAAAGTAGTGAATCAACT	0.433													12	107					3.07112e-06	3.5041e-06	1	1	0	T	158257812	G	T	158257812	3	4	81	1	0	0	0	0	1	0	0	0	6809	1029	36	4	1799	4	GRIA2	4	158257812	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	29	158257812	32896464	4137	7753											
RXFP1	59350	broad.mit.edu	37	4	159533502	159533502	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:159533502C>T	ENST00000307765.5	+	8	919	c.668C>T	c.(667-669)tCt>tTt	p.S223F	RXFP1_ENST00000343542.5_Missense_Mutation_p.S223F|RXFP1_ENST00000470033.1_Missense_Mutation_p.S190F|RXFP1_ENST00000460056.2_Missense_Mutation_p.S142F|RXFP1_ENST00000448688.2_Missense_Mutation_p.S142F	NM_001253727.1|NM_001253728.1|NM_001253730.1|NM_001253732.1|NM_001253733.1|NM_021634.3	NP_001240656.1|NP_001240657.1|NP_001240659.1|NP_001240661.1|NP_001240662.1|NP_067647.2	Q9HBX9	RXFP1_HUMAN	relaxin/insulin-like family peptide receptor 1	223						integral to membrane|plasma membrane	G-protein coupled receptor activity|metal ion binding	p.S223Y(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10)	49	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0219)		GGACTAAATTCTCTTATTCTC	0.274													11	14					0	0	1	0	0	T	159533502	C	T	159533502	3	4	81	1	0	0	0	0	1	0	0	0	13811	913	32	2	698	2	RXFP1	4	159533502	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1275690	159533502	31620774	4138	7754											
RXFP1	59350	broad.mit.edu	37	4	159569700	159569700	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:159569700G>A	ENST00000307765.5	+	17	2057	c.1806G>A	c.(1804-1806)atG>atA	p.M602I	RXFP1_ENST00000343542.5_Missense_Mutation_p.M554I|RXFP1_ENST00000470033.1_Missense_Mutation_p.M569I|RXFP1_ENST00000460056.2_Missense_Mutation_p.M521I|RXFP1_ENST00000448688.2_Missense_Mutation_p.M497I	NM_001253727.1|NM_001253728.1|NM_001253730.1|NM_001253732.1|NM_001253733.1|NM_021634.3	NP_001240656.1|NP_001240657.1|NP_001240659.1|NP_001240661.1|NP_001240662.1|NP_067647.2	Q9HBX9	RXFP1_HUMAN	relaxin/insulin-like family peptide receptor 1	602						integral to membrane|plasma membrane	G-protein coupled receptor activity|metal ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10)	49	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0219)		ATGGAAGCATGTTTTATAGTG	0.289													20	46					0	0	1	0	0	A	159569700	G	A	159569700	3	1	81	1	0	0	0	0	1	0	0	0	13811	1377	48	2	1872	2	RXFP1	4	159569700	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	36198	159569700	31584576	4139	7755											
ETFDH	2110	broad.mit.edu	37	4	159606352	159606352	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:159606352C>A	ENST00000511912.1	+	5	919	c.587C>A	c.(586-588)cCt>cAt	p.P196H	ETFDH_ENST00000307738.5_Missense_Mutation_p.P149H	NM_001281738.1|NM_004453.2	NP_001268667.1|NP_004444.2	Q16134	ETFD_HUMAN	electron-transferring-flavoprotein dehydrogenase	196					fatty acid beta-oxidation using acyl-CoA dehydrogenase|respiratory electron transport chain|response to oxidative stress|transport	integral to mitochondrial inner membrane|mitochondrial matrix	4 iron, 4 sulfur cluster binding|electron carrier activity|electron-transferring-flavoprotein dehydrogenase activity|flavin adenine dinucleotide binding|metal ion binding|oxidoreductase activity, oxidizing metal ions with flavin as acceptor|ubiquinone binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|prostate(1)|skin(3)	28	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0172)		GAAGTATACCCTGGTTATGCA	0.368													7	109					0.000157383	0.000171784	1	1	0	A	159606352	C	A	159606352	3	1	81	1	0	0	0	0	1	0	0	0	5299	681	24	4	605	4	ETFDH	4	159606352	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	36652	159606352	31547924	4140	7756											
ETFDH	2110	broad.mit.edu	37	4	159624692	159624692	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:159624692G>T	ENST00000511912.1	+	10	1566	c.1234G>T	c.(1234-1236)Gaa>Taa	p.E412*	ETFDH_ENST00000307738.5_Nonsense_Mutation_p.E365*	NM_001281738.1|NM_004453.2	NP_001268667.1|NP_004444.2	Q16134	ETFD_HUMAN	electron-transferring-flavoprotein dehydrogenase	412					fatty acid beta-oxidation using acyl-CoA dehydrogenase|respiratory electron transport chain|response to oxidative stress|transport	integral to mitochondrial inner membrane|mitochondrial matrix	4 iron, 4 sulfur cluster binding|electron carrier activity|electron-transferring-flavoprotein dehydrogenase activity|flavin adenine dinucleotide binding|metal ion binding|oxidoreductase activity, oxidizing metal ions with flavin as acceptor|ubiquinone binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|prostate(1)|skin(3)	28	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0172)		TTTAGCAGCAGAATCTATTTT	0.338													13	75					1.61879e-10	1.98515e-10	1	1	0	T	159624692	G	T	159624692	4	4	81	1	0	0	0	0	0	1	0	0	5299	943	33	4	1272	4	ETFDH	4	159624692	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	18340	159624692	31529584	4141	7757											
PPID	5481	broad.mit.edu	37	4	159642600	159642600	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:159642600C>T	ENST00000307720.3	-	2	228	c.121G>A	c.(121-123)Gta>Ata	p.V41I		NM_005038.2	NP_005029.1	Q08752	PPID_HUMAN	peptidylprolyl isomerase D	41	PPIase cyclophilin-type.				protein folding	cytoplasm|intermediate filament cytoskeleton	cyclosporin A binding|heat shock protein binding|peptidyl-prolyl cis-trans isomerase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|skin(1)	8	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0159)		GTTTTGGGTACGATATCTGCA	0.378													22	9					0	0	1	0	0	T	159642600	C	T	159642600	3	4	81	1	0	0	0	0	1	0	0	0	12370	536	19	1	1027	1	PPID	4	159642600	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	17908	159642600	31511676	4142	7758											
FNIP2	57600	broad.mit.edu	37	4	159791564	159791564	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:159791564C>T	ENST00000264433.6	+	14	2967	c.2892C>T	c.(2890-2892)acC>acT	p.T964T	FNIP2_ENST00000379346.3_Silent_p.T987T	NM_020840.1	NP_065891.1	Q9P278	FNIP2_HUMAN	folliculin interacting protein 2	964					DNA damage response, signal transduction resulting in induction of apoptosis|protein phosphorylation|regulation of protein phosphorylation	cytoplasm	protein binding	p.T964T(1)|p.T290T(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	9	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.00936)		TTCATGGGACCGGCAGTGATG	0.562													10	21					0	0	1	0	0	T	159791564	C	T	159791564	2	4	81	1	0	0	0	0	0	0	0	1	6009	639	23	1		1	FNIP2	4	159791564	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	148964	159791564	31362712	4143	7759											
RAPGEF2	9693	broad.mit.edu	37	4	160251596	160251596	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:160251596G>A	ENST00000264431.4	+	7	1349	c.930G>A	c.(928-930)atG>atA	p.M310I		NM_014247.2	NP_055062.1	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor (GEF) 2	310	N-terminal Ras-GEF.				cAMP-mediated signaling|MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		CTAGCCCAATGGAAGTGGGCA	0.368													33	61					0	0	1	0	0	A	160251596	G	A	160251596	3	1	81	1	0	0	0	0	1	0	0	0	13096	1348	47	2	956	2	RAPGEF2	4	160251596	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	460032	160251596	30902680	4144	7760											
RAPGEF2	9693	broad.mit.edu	37	4	160252938	160252938	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:160252938G>T	ENST00000264431.4	+	9	1668	c.1249G>T	c.(1249-1251)Gat>Tat	p.D417Y		NM_014247.2	NP_055062.1	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor (GEF) 2	417	PDZ.				cAMP-mediated signaling|MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		TGACAGTGTAGATTCAGGTAG	0.413													17	124					6.49762e-13	8.15126e-13	1	1	0	T	160252938	G	T	160252938	3	4	81	1	0	0	0	0	1	0	0	0	13096	942	33	4	1283	4	RAPGEF2	4	160252938	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1342	160252938	30901338	4145	7761											
RAPGEF2	9693	broad.mit.edu	37	4	160277280	160277280	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:160277280C>T	ENST00000264431.4	+	23	4863	c.4444C>T	c.(4444-4446)Cag>Tag	p.Q1482*		NM_014247.2	NP_055062.1	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor (GEF) 2	1482					cAMP-mediated signaling|MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		CGCCCCCTATCAGTCCCAAGG	0.522													5	13					0	0	1	0	0	T	160277280	C	T	160277280	4	4	81	1	0	0	0	0	0	1	0	0	13096	827	29	2	4534	2	RAPGEF2	4	160277280	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	24342	160277280	30876996	4146	7762											
FSTL5	56884	broad.mit.edu	37	4	162306918	162306918	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:162306918A>C	ENST00000306100.5	-	16	2961	c.2525T>G	c.(2524-2526)aTt>aGt	p.I842S	FSTL5_ENST00000427802.2_Missense_Mutation_p.I832S|FSTL5_ENST00000379164.4_Missense_Mutation_p.I841S|RP11-234O6.2_ENST00000508189.1_RNA|FSTL5_ENST00000536695.1_Missense_Mutation_p.I841S	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	842						extracellular region	calcium ion binding			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		TCCAACCCAAATGACTGTATT	0.348													20	56					0	0	1	0	0	C	162306918	A	C	162306918	3	2	81	1	0	0	0	0	1	0	0	0	6115	101	4	4	22	4	FSTL5	4	162306918	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	2029638	162306918	28847358	4147	7763											
FSTL5	56884	broad.mit.edu	37	4	162402263	162402263	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:162402263G>A	ENST00000306100.5	-	13	1953	c.1517C>T	c.(1516-1518)gCt>gTt	p.A506V	FSTL5_ENST00000427802.2_Missense_Mutation_p.A496V|FSTL5_ENST00000379164.4_Missense_Mutation_p.A505V|FSTL5_ENST00000536695.1_Missense_Mutation_p.A505V	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	506						extracellular region	calcium ion binding			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		GACATTAACAGCTGATGCCCA	0.383													51	94					0	0	1	0	0	A	162402263	G	A	162402263	3	1	81	1	0	0	0	0	1	0	0	0	6115	971	34	2	1042	2	FSTL5	4	162402263	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	95345	162402263	28752013	4148	7764											
NAF1	92345	broad.mit.edu	37	4	164050495	164050495	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:164050495C>A	ENST00000274054.2	-	8	1232	c.1039G>T	c.(1039-1041)Gat>Tat	p.D347Y	NAF1_ENST00000422287.2_Intron|NAF1_ENST00000509434.1_Intron	NM_138386.2	NP_612395.2	Q96HR8	NAF1_HUMAN	nuclear assembly factor 1 ribonucleoprotein	347					rRNA processing|snRNA pseudouridine synthesis	cytoplasm|nucleus|small nucleolar ribonucleoprotein complex	protein binding|snoRNA binding			NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(10)|ovary(2)	21	all_hematologic(180;0.166)	Prostate(90;0.109)				TCAGTAAAATCTTCACCTTTG	0.343													18	37					1.99824e-07	2.33645e-07	1	1	0	A	164050495	C	A	164050495	3	1	81	1	0	0	0	0	1	0	0	0	10188	913	32	4	590	4	NAF1	4	164050495	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1648232	164050495	27103781	4149	7765											
NPY1R	4886	broad.mit.edu	37	4	164246906	164246906	+	Translation_Start_Site	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:164246906T>C	ENST00000509586.1	-	0	236				NPY1R_ENST00000296533.2_Missense_Mutation_p.Y235C			P25929	NPY1R_HUMAN	neuropeptide Y receptor Y1						inhibition of adenylate cyclase activity by G-protein signaling pathway|outflow tract morphogenesis	integral to plasma membrane	protein binding			breast(1)|cervix(1)|large_intestine(4)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)	30	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				TAGGCGTATATATATCTATGG	0.313													4	32					0	0	1	0	0	C	164246906	T	C	164246906	1	2	81	1	0	0	0	0	0	0	0	0	10656	1406	49	3		3	NPY1R	4	164246906	Translation_Start_Site	SNP	T	TCGA-DU-6392-01A-11D-1705-08	196411	164246906	26907370	4150	7766											
TRIM60	166655	broad.mit.edu	37	4	165961663	165961663	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:165961663A>G	ENST00000512596.1	+	3	655	c.439A>G	c.(439-441)Agc>Ggc	p.S147G	TRIM60_ENST00000508504.1_Missense_Mutation_p.S147G|TRIM60_ENST00000341062.5_Missense_Mutation_p.S147G	NM_152620.2	NP_689833.1	Q495X7	TRI60_HUMAN	tripartite motif containing 60	147						intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	29	all_hematologic(180;0.221)	Prostate(90;0.0959)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.0844)		TCTAGAAGGTAGCCTTGAGCC	0.393													4	57					0	0	1	0	0	G	165961663	A	G	165961663	3	3	81	1	0	0	0	0	1	0	0	0	16596	420	15	3	441	3	TRIM60	4	165961663	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	1714757	165961663	25192613	4151	7767											
KLHL2	11275	broad.mit.edu	37	4	166226860	166226860	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:166226860C>T	ENST00000226725.6	+	9	1281	c.1022C>T	c.(1021-1023)tCc>tTc	p.S341F	KLHL2_ENST00000509028.1_Intron|KLHL2_ENST00000506761.1_Missense_Mutation_p.S175F|KLHL2_ENST00000538127.1_Missense_Mutation_p.S253F|KLHL2_ENST00000421009.2_Missense_Mutation_p.S244F|KLHL2_ENST00000514860.1_Missense_Mutation_p.S345F	NM_007246.3	NP_009177.3	O95198	KLHL2_HUMAN	kelch-like family member 2	341					intracellular protein transport	actin cytoskeleton|cytoplasm	actin binding|transporter activity			endometrium(3)|large_intestine(5)|lung(4)|prostate(1)|urinary_tract(1)	14	all_hematologic(180;0.221)			GBM - Glioblastoma multiforme(119;2.94e-27)|COAD - Colon adenocarcinoma(41;1.4e-05)|Kidney(143;4.95e-05)|KIRC - Kidney renal clear cell carcinoma(143;0.000927)		GAGTTGCCTTCCAGGAGGTGC	0.463													37	73					0	0	1	0	0	T	166226860	C	T	166226860	3	4	81	1	0	0	0	0	1	0	0	0	8417	855	30	2	1098	2	KLHL2	4	166226860	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	265197	166226860	24927416	4152	7768											
CPE	1363	broad.mit.edu	37	4	166414350	166414350	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:166414350C>T	ENST00000402744.4	+	7	1421	c.1141C>T	c.(1141-1143)Cga>Tga	p.R381*		NM_001873.2	NP_001864.1	P16870	CBPE_HUMAN	carboxypeptidase E	381					cardiac left ventricle morphogenesis|neuropeptide signaling pathway|protein modification process	extracellular region|nucleus|plasma membrane	metallocarboxypeptidase activity|protein binding|zinc ion binding			endometrium(2)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	26	all_hematologic(180;0.221)	Prostate(90;0.0962)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.137)	Glucagon recombinant(DB00040)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	AGGATTTGTCCGAGACCTTCA	0.403											OREG0016391	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	29					0	0	1	0	0	T	166414350	C	T	166414350	4	4	81	1	0	0	0	0	0	1	0	0	3822	644	23	1	1167	1	CPE	4	166414350	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	187490	166414350	24739926	4153	7769											
TLL1	7092	broad.mit.edu	37	4	166963178	166963178	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:166963178G>T	ENST00000061240.2	+	11	1908		c.e11-1		TLL1_ENST00000507499.1_Splice_Site	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1						cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		ATTTCTTTTAGGTAGATTCTG	0.353													5	118					1	1	1	1	0	T	166963178	G	T	166963178	5	4	81	1	0	0	0	0	0	0	1	0	16005	1014	35	4	1303	4	TLL1	4	166963178	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	548828	166963178	24191098	4154	7770											
TLL1	7092	broad.mit.edu	37	4	166964527	166964527	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:166964527G>T	ENST00000061240.2	+	12	2127	c.1480G>T	c.(1480-1482)Gtg>Ttg	p.V494L	TLL1_ENST00000507499.1_Missense_Mutation_p.V494L	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	494	CUB 2.				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		GAAAATAACAGTGTCTGAGAG	0.433													10	133					9.70103e-10	1.17698e-09	1	1	0	T	166964527	G	T	166964527	3	4	81	1	0	0	0	0	1	0	0	0	16005	1029	36	4	1526	4	TLL1	4	166964527	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1349	166964527	24189749	4155	7771											
TLL1	7092	broad.mit.edu	37	4	166964541	166964541	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:166964541C>T	ENST00000061240.2	+	12	2141	c.1494C>T	c.(1492-1494)taC>taT	p.Y498Y	TLL1_ENST00000507499.1_Silent_p.Y498Y	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	498	CUB 2.				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		CTGAGAGCTACCACGTCGGGC	0.418													56	86					0	0	1	0	0	T	166964541	C	T	166964541	2	4	81	1	0	0	0	0	0	0	0	1	16005	518	18	2		2	TLL1	4	166964541	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	14	166964541	24189735	4156	7772											
TLL1	7092	broad.mit.edu	37	4	166999172	166999172	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:166999172G>A	ENST00000061240.2	+	18	3079	c.2432G>A	c.(2431-2433)cGa>cAa	p.R811Q	TLL1_ENST00000507499.1_Missense_Mutation_p.R834Q	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	811	CUB 4.				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding	p.R811Q(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		CCTGGCCACCGAATCAAATTA	0.458													9	21					0	0	1	0	0	A	166999172	G	A	166999172	3	1	81	1	0	0	0	0	1	0	0	0	16005	1058	37	1	2502	1	TLL1	4	166999172	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	34631	166999172	24155104	4157	7773											
ANXA10	11199	broad.mit.edu	37	4	169105788	169105788	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:169105788C>T	ENST00000359299.3	+	11	1048	c.862C>T	c.(862-864)Cga>Tga	p.R288*		NM_007193.4	NP_009124.2	Q9UJ72	ANX10_HUMAN	annexin A10	288							calcium ion binding|calcium-dependent phospholipid binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(2)	16		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0325)		CATAAGGAAACGATACAAAGA	0.363													45	89					0	0	1	0	0	T	169105788	C	T	169105788	4	4	81	1	0	0	0	0	0	1	0	0	709	528	19	1	904	1	ANXA10	4	169105788	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2106616	169105788	22048488	4158	7774											
DDX60	55601	broad.mit.edu	37	4	169172246	169172246	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:169172246C>A	ENST00000393743.3	-	28	4008	c.3717G>T	c.(3715-3717)aaG>aaT	p.K1239N		NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	1239	Helicase C-terminal.						ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		GACCAAATACCTTCTGCAAAG	0.294													22	30					2.70639e-06	3.09322e-06	1	1	0	A	169172246	C	A	169172246	3	1	81	1	0	0	0	0	1	0	0	0	4401	680	24	4	1465	4	DDX60	4	169172246	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	66458	169172246	21982030	4159	7775											
DDX60	55601	broad.mit.edu	37	4	169183841	169183841	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:169183841C>T	ENST00000393743.3	-	23	3428	c.3137G>A	c.(3136-3138)cGg>cAg	p.R1046Q	DDX60_ENST00000505393.1_5'UTR	NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	1046							ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		TACCTGGGCCCGAGGCCAACT	0.378													35	68					0	0	1	0	0	T	169183841	C	T	169183841	3	4	81	1	0	0	0	0	1	0	0	0	4401	652	23	1	2065	1	DDX60	4	169183841	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	11595	169183841	21970435	4160	7776											
DDX60	55601	broad.mit.edu	37	4	169195159	169195159	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:169195159C>A	ENST00000393743.3	-	17	2671	c.2380G>T	c.(2380-2382)Gcc>Tcc	p.A794S		NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	794	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		TAGTAGGAGGCATAGGTTTTG	0.498													33	50					7.16026e-08	8.44137e-08	1	1	0	A	169195159	C	A	169195159	3	1	81	1	0	0	0	0	1	0	0	0	4401	710	25	5	2846	5	DDX60	4	169195159	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	11318	169195159	21959117	4161	7777											
DDX60L	91351	broad.mit.edu	37	4	169353660	169353660	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:169353660G>A	ENST00000511577.1	-	12	1709	c.1462C>T	c.(1462-1464)Cat>Tat	p.H488Y	DDX60L_ENST00000260184.7_Missense_Mutation_p.H488Y|DDX60L_ENST00000505890.1_Missense_Mutation_p.H488Y			Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	488							ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		CTTTGAGCATGCCAGTGCAAA	0.343													3	29					0	0	1	0	0	A	169353660	G	A	169353660	3	1	81	1	0	0	0	0	1	0	0	0	4402	1319	46	2	3766	2	DDX60L	4	169353660	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	158501	169353660	21800616	4162	7778											
DDX60L	91351	broad.mit.edu	37	4	169383115	169383115	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:169383115T>C	ENST00000511577.1	-	5	588	c.341A>G	c.(340-342)aAt>aGt	p.N114S	DDX60L_ENST00000260184.7_Missense_Mutation_p.N114S|DDX60L_ENST00000505890.1_Missense_Mutation_p.N114S			Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	114							ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		AATGTTAGTATTGTGTTGAAG	0.373													6	17					0	0	1	0	0	C	169383115	T	C	169383115	3	2	81	1	0	0	0	0	1	0	0	0	4402	1493	52	3	4915	3	DDX60L	4	169383115	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	29455	169383115	21771161	4163	7779											
PALLD	23022	broad.mit.edu	37	4	169432880	169432880	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:169432880C>A	ENST00000261509.6	+	2	436	c.225C>A	c.(223-225)ctC>ctA	p.L75L	PALLD_ENST00000505667.1_Silent_p.L75L|PALLD_ENST00000333488.4_5'UTR|PALLD_ENST00000335742.7_5'UTR	NM_001166108.1|NM_016081.3	NP_001159580.1|NP_057165.3	Q8WX93	PALLD_HUMAN	palladin, cytoskeletal associated protein	75					cytoskeleton organization	actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere	actin binding|muscle alpha-actinin binding			breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)		CTGCAAGCCTCTGTGAACATC	0.517									Pancreatic Cancer, Familial Clustering of				5	38					0.000602214	0.000646338	1	1	0	A	169432880	C	A	169432880	2	1	81	1	0	0	0	0	0	0	0	1	11454	900	32	4		4	PALLD	4	169432880	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	49765	169432880	21721396	4164	7780											
PALLD	23022	broad.mit.edu	37	4	169630277	169630277	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:169630277G>A	ENST00000335742.7	+	9	1811	c.454G>A	c.(454-456)Gcc>Acc	p.A152T	PALLD_ENST00000512127.1_Missense_Mutation_p.A152T|PALLD_ENST00000505667.1_Missense_Mutation_p.A534T|PALLD_ENST00000261509.6_Missense_Mutation_p.A534T			Q8WX93	PALLD_HUMAN	palladin, cytoskeletal associated protein	534					cytoskeleton organization	actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere	actin binding|muscle alpha-actinin binding			breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)		AACCAGCACTGCCCAGCTGGT	0.493									Pancreatic Cancer, Familial Clustering of				22	39					0	0	1	0	0	A	169630277	G	A	169630277	3	1	81	1	0	0	0	0	1	0	0	0	11454	1319	46	2	1630	2	PALLD	4	169630277	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	197397	169630277	21523999	4165	7781											
PALLD	23022	broad.mit.edu	37	4	169819820	169819820	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:169819820G>A	ENST00000335742.7	+	14	3259	c.1902G>A	c.(1900-1902)atG>atA	p.M634I	PALLD_ENST00000512127.1_Missense_Mutation_p.M410I|PALLD_ENST00000505667.1_Missense_Mutation_p.M809I|PALLD_ENST00000507735.1_Missense_Mutation_p.M305I|CBR4_ENST00000509108.1_Intron|PALLD_ENST00000261509.6_Missense_Mutation_p.M792I			Q8WX93	PALLD_HUMAN	palladin, cytoskeletal associated protein	1016	Pro-rich.				cytoskeleton organization	actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere	actin binding|muscle alpha-actinin binding			breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)		TTGAGGGAATGCCAGTAACTT	0.428									Pancreatic Cancer, Familial Clustering of				5	58					0	0	1	0	0	A	169819820	G	A	169819820	3	1	81	1	0	0	0	0	1	0	0	0	11454	1319	46	2	2984	2	PALLD	4	169819820	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	189543	169819820	21334456	4166	7782											
PALLD	23022	broad.mit.edu	37	4	169842815	169842815	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:169842815G>A	ENST00000335742.7	+	18	3813	c.2456G>A	c.(2455-2457)cGt>cAt	p.R819H	PALLD_ENST00000512127.1_Missense_Mutation_p.R595H|PALLD_ENST00000505667.1_Missense_Mutation_p.R994H|PALLD_ENST00000507735.1_Missense_Mutation_p.R490H|CBR4_ENST00000509108.1_Intron|PALLD_ENST00000261509.6_Missense_Mutation_p.R977H			Q8WX93	PALLD_HUMAN	palladin, cytoskeletal associated protein	1201	Interaction with ARGBP2, SPIN90, SRC and PFN1.|Interaction with EPS8 (By similarity).|Interaction with VASP (By similarity).|Pro-rich.				cytoskeleton organization	actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere	actin binding|muscle alpha-actinin binding			breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)		GTCACGTCACGTGATGCCGGC	0.537									Pancreatic Cancer, Familial Clustering of				17	31					0	0	1	0	0	A	169842815	G	A	169842815	3	1	81	1	0	0	0	0	1	0	0	0	11454	1145	40	1	3554	1	PALLD	4	169842815	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	22995	169842815	21311461	4167	7783											
CBR4	84869	broad.mit.edu	37	4	169923300	169923300	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:169923300C>A	ENST00000306193.3	-	4	625	c.457G>T	c.(457-459)Gga>Tga	p.G153*	CBR4_ENST00000504480.1_Nonsense_Mutation_p.G153*|CBR4_ENST00000509108.1_5'UTR	NM_032783.4	NP_116172.2	Q8N4T8	CBR4_HUMAN	carbonyl reductase 4	153					fatty acid biosynthetic process|protein homotetramerization	mitochondrial matrix	NADPH binding|NADPH dehydrogenase (quinone) activity|protein binding|quinone binding			kidney(1)|large_intestine(2)|lung(2)	5		Prostate(90;0.00263)|Renal(120;0.0183)|Melanoma(52;0.123)		GBM - Glioblastoma multiforme(119;0.0321)		ACTAATCCTCCTTTACTGGCA	0.343													4	37					0.014758	0.0152304	1	1	0	A	169923300	C	A	169923300	4	1	81	1	0	0	0	0	0	1	0	0	2728	690	24	4	264	4	CBR4	4	169923300	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	80485	169923300	21230976	4168	7784											
CBR4	84869	broad.mit.edu	37	4	169928023	169928023	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:169928023T>A	ENST00000306193.3	-	3	451	c.283A>T	c.(283-285)Aca>Tca	p.T95S	CBR4_ENST00000504480.1_Missense_Mutation_p.T95S	NM_032783.4	NP_116172.2	Q8N4T8	CBR4_HUMAN	carbonyl reductase 4	95					fatty acid biosynthetic process|protein homotetramerization	mitochondrial matrix	NADPH binding|NADPH dehydrogenase (quinone) activity|protein binding|quinone binding			kidney(1)|large_intestine(2)|lung(2)	5		Prostate(90;0.00263)|Renal(120;0.0183)|Melanoma(52;0.123)		GBM - Glioblastoma multiforme(119;0.0321)		TCAGTTTTTGTTCTTACTAAA	0.353													76	111					0	0	1	0	0	A	169928023	T	A	169928023	3	1	81	1	0	0	0	0	1	0	0	0	2728	1725	60	5	442	5	CBR4	4	169928023	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	4723	169928023	21226253	4169	7785											
SH3RF1	57630	broad.mit.edu	37	4	170028083	170028083	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:170028083C>T	ENST00000284637.9	-	11	2754	c.2413G>A	c.(2413-2415)Gca>Aca	p.A805T		NM_020870.3	NP_065921.2	Q7Z6J0	SH3R1_HUMAN	SH3 domain containing ring finger 1	805						Golgi apparatus|lamellipodium|perinuclear region of cytoplasm	ligase activity|zinc ion binding			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31		Prostate(90;0.00267)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)		ATGGGAACTGCGGAGTCCAGG	0.592													5	76					0	0	1	0	0	T	170028083	C	T	170028083	3	4	81	1	0	0	0	0	1	0	0	0	14313	768	27	1	261	1	SH3RF1	4	170028083	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	100060	170028083	21126193	4170	7786											
SH3RF1	57630	broad.mit.edu	37	4	170038810	170038810	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:170038810G>A	ENST00000284637.9	-	9	1982	c.1641C>T	c.(1639-1641)ggC>ggT	p.G547G	SH3RF1_ENST00000508685.1_5'UTR	NM_020870.3	NP_065921.2	Q7Z6J0	SH3R1_HUMAN	SH3 domain containing ring finger 1	547						Golgi apparatus|lamellipodium|perinuclear region of cytoplasm	ligase activity|zinc ion binding			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31		Prostate(90;0.00267)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)		TCCCAGCCACGCCATTTCCCT	0.582													12	25					0	0	1	0	0	A	170038810	G	A	170038810	2	1	81	1	0	0	0	0	0	0	0	1	14313	1074	38	1		1	SH3RF1	4	170038810	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	10727	170038810	21115466	4171	7787											
CLCN3	1182	broad.mit.edu	37	4	170628254	170628254	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:170628254G>T	ENST00000513761.1	+	11	2545	c.1986G>T	c.(1984-1986)agG>agT	p.R662S	CLCN3_ENST00000360642.3_Missense_Mutation_p.R635S|CLCN3_ENST00000504131.2_Missense_Mutation_p.R645S|CLCN3_ENST00000347613.4_Missense_Mutation_p.R662S	NM_001829.3	NP_001820.2	P51790	CLCN3_HUMAN	chloride channel, voltage-sensitive 3	662	CBS 1.				endosomal lumen acidification	cell surface|early endosome membrane|Golgi membrane|integral to membrane|late endosome membrane|transport vesicle membrane	antiporter activity|ATP binding|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|voltage-gated chloride channel activity			breast(5)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	29		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0233)|LUSC - Lung squamous cell carcinoma(193;0.131)		GACCTCGAAGGAATGATCCTC	0.408													11	91					0.000673444	0.000721718	1	1	0	T	170628254	G	T	170628254	3	4	81	1	0	0	0	0	1	0	0	0	3487	1165	41	5	2024	5	CLCN3	4	170628254	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	589444	170628254	20526022	4172	7788											
C4orf27	54969	broad.mit.edu	37	4	170663239	170663240	+	Frame_Shift_Ins	INS	-	-	T	rs34118589		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:170663239_170663240insT	ENST00000393381.2	-	5	591_592	c.516_517insA	c.(514-519)aaacttfs	p.L173fs		NM_017867.2	NP_060337.2	Q9NWY4	CD027_HUMAN	chromosome 4 open reading frame 27	173						nucleus				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)	12		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.018)|LUSC - Lung squamous cell carcinoma(193;0.116)		ATTTCTCTAAGTTTTTTCGTCA	0.361													7	63	---	---	---	---						T	170663240	-	T	170663239	7	5	81	1	0	1	1	0	0	0	0	0	2273	1029	36	0	539	0	C4orf27	4	170663239	Frame_Shift_Ins	INS	-	TCGA-DU-6392-01A-11D-1705-08	34985	170663239	20491037	4173	7789											
C4orf27	54969	broad.mit.edu	37	4	170671750	170671750	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:170671750G>T	ENST00000393381.2	-	3	410	c.335C>A	c.(334-336)cCt>cAt	p.P112H		NM_017867.2	NP_060337.2	Q9NWY4	CD027_HUMAN	chromosome 4 open reading frame 27	112						nucleus				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)	12		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.018)|LUSC - Lung squamous cell carcinoma(193;0.116)		GAACTCAGGAGGATCATAGTA	0.373													7	189					0.000157383	0.000171784	1	1	0	T	170671750	G	T	170671750	3	4	81	1	0	0	0	0	1	0	0	0	2273	1000	35	4	729	4	C4orf27	4	170671750	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	8511	170671750	20482526	4174	7790											
GALNTL6	442117	broad.mit.edu	37	4	173269674	173269674	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:173269674C>T	ENST00000506823.1	+	5	1044	c.387C>T	c.(385-387)aaC>aaT	p.N129N	GALNTL6_ENST00000508122.1_Splice_Site_p.N112N|GALNTL6_ENST00000457021.1_3'UTR	NM_001034845.2	NP_001030017.2	Q49A17	GLTL6_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6	129						Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(2)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	45						TCATCTCCAGCTGTAAGCATA	0.383													5	118					0	0	1	0	0	T	173269674	C	T	173269674	5	4	81	1	0	0	0	0	0	0	1	0	6265	811	28	2	401	2	GALNTL6	4	173269674	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2597924	173269674	17884602	4175	7791											
HMGB2	3148	broad.mit.edu	37	4	174253297	174253297	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:174253297T>C	ENST00000296503.5	-	5	1437	c.564A>G	c.(562-564)gaA>gaG	p.E188E	HMGB2_ENST00000446922.2_Silent_p.E188E|HMGB2_ENST00000438704.2_Silent_p.E188E			P26583	HMGB2_HUMAN	high mobility group box 2	188	Asp/Glu-rich (acidic).				base-excision repair, DNA ligation|cell chemotaxis|cellular response to lipopolysaccharide|DNA fragmentation involved in apoptotic nuclear change|DNA topological change|negative regulation of transcription, DNA-dependent|nucleosome assembly|phosphatidylinositol-mediated signaling|positive regulation of DNA binding|positive regulation of endothelial cell proliferation|positive regulation of erythrocyte differentiation|positive regulation of megakaryocyte differentiation|positive regulation of nuclease activity|positive regulation of transcription from RNA polymerase II promoter|V(D)J recombination	condensed chromosome|extracellular space|nucleolus|nucleoplasm|perinuclear region of cytoplasm|protein complex	chemoattractant activity|damaged DNA binding|DNA bending activity|double-stranded DNA binding|RAGE receptor binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding|transcription regulatory region DNA binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|urinary_tract(3)	14		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)		all cancers(43;9.58e-18)|Epithelial(43;3.75e-16)|OV - Ovarian serous cystadenocarcinoma(60;6.24e-09)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249)		cctcctcatcttctggttcgt	0.458													9	91					0	0	1	0	0	C	174253297	T	C	174253297	2	2	81	1	0	0	0	0	0	0	0	1	7267	1606	56	3		3	HMGB2	4	174253297	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	983623	174253297	16900979	4176	7792											
GLRA3	8001	broad.mit.edu	37	4	175598271	175598271	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:175598271C>T	ENST00000274093.3	-	7	1387	c.885G>A	c.(883-885)acG>acA	p.T295T	GLRA3_ENST00000340217.5_Silent_p.T295T	NM_006529.2	NP_006520.2	O75311	GLRA3_HUMAN	glycine receptor, alpha 3	295					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity			endometrium(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	35		Prostate(90;0.00601)|Breast(14;0.0091)|Melanoma(52;0.00959)|Renal(120;0.0183)|all_neural(102;0.0891)|all_hematologic(60;0.107)		all cancers(43;4.99e-18)|Epithelial(43;1.18e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.88e-09)|STAD - Stomach adenocarcinoma(60;0.00442)|GBM - Glioblastoma multiforme(59;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0421)	Glycine(DB00145)	GTGTAGTCATCGTTAGCACAG	0.463													19	28					0	0	1	0	0	T	175598271	C	T	175598271	2	4	81	1	0	0	0	0	0	0	0	1	6498	871	31	1		1	GLRA3	4	175598271	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1344974	175598271	15556005	4177	7793											
GPM6A	2823	broad.mit.edu	37	4	176556060	176556060	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:176556060G>A	ENST00000280187.7	-	8	878	c.833C>T	c.(832-834)aCa>aTa	p.T278I	GPM6A_ENST00000515090.1_Missense_Mutation_p.T271I|GPM6A_ENST00000506219.1_5'UTR|GPM6A_ENST00000506894.1_Missense_Mutation_p.T267I|GPM6A_ENST00000393658.2_Missense_Mutation_p.T278I	NM_005277.4	NP_005268.1	P51674	GPM6A_HUMAN	glycoprotein M6A	278						cell surface|integral to membrane				NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33		Breast(14;7.35e-05)|Melanoma(52;0.00909)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;9.21e-19)|Epithelial(43;3.01e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.02e-09)|STAD - Stomach adenocarcinoma(60;0.00083)|GBM - Glioblastoma multiforme(59;0.00168)|LUSC - Lung squamous cell carcinoma(193;0.0388)		ATGCATTTATGTGTATGCATT	0.433													6	52					0	0	1	0	0	A	176556060	G	A	176556060	3	1	81	1	0	0	0	0	1	0	0	0	6655	1377	48	2	7	2	GPM6A	4	176556060	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	957789	176556060	14598216	4178	7794											
WDR17	116966	broad.mit.edu	37	4	177052789	177052789	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:177052789C>T	ENST00000393643.2	+	7	1250	c.998C>T	c.(997-999)gCa>gTa	p.A333V	WDR17_ENST00000280190.4_Missense_Mutation_p.A357V|WDR17_ENST00000508596.1_Missense_Mutation_p.A333V|WDR17_ENST00000507824.2_Missense_Mutation_p.A340V	NM_170710.4	NP_733828.2	Q8IZU2	WDR17_HUMAN	WD repeat domain 17	357										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		CAGAATCAAGCATTTTCTCTT	0.398													76	143					0	0	1	0	0	T	177052789	C	T	177052789	3	4	81	1	0	0	0	0	1	0	0	0	17337	710	25	2	1096	2	WDR17	4	177052789	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	496729	177052789	14101487	4179	7795											
WDR17	116966	broad.mit.edu	37	4	177094487	177094487	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:177094487G>A	ENST00000393643.2	+	26	3611	c.3359G>A	c.(3358-3360)cGt>cAt	p.R1120H	WDR17_ENST00000280190.4_Missense_Mutation_p.R1144H|WDR17_ENST00000508596.1_Missense_Mutation_p.R1105H|WDR17_ENST00000507824.2_Missense_Mutation_p.R1119H	NM_170710.4	NP_733828.2	Q8IZU2	WDR17_HUMAN	WD repeat domain 17	1144										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		AGCTATATTCGTACTGAAAAA	0.333													12	30					0	0	1	0	0	A	177094487	G	A	177094487	3	1	81	1	0	0	0	0	1	0	0	0	17337	1145	40	1	3533	1	WDR17	4	177094487	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	41698	177094487	14059789	4180	7796											
SPATA4	132851	broad.mit.edu	37	4	177114617	177114617	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:177114617G>A	ENST00000280191.2	-	2	443	c.335C>T	c.(334-336)gCa>gTa	p.A112V	SPATA4_ENST00000515234.1_5'UTR	NM_144644.2	NP_653245.2	Q8NEY3	SPAT4_HUMAN	spermatogenesis associated 4	112					apoptosis|spermatogenesis			p.A112E(1)		NS(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)	22		Breast(14;0.0011)|Prostate(90;0.0129)|Melanoma(52;0.0133)|Renal(120;0.0376)|all_hematologic(60;0.124)		all cancers(43;2.9e-20)|Epithelial(43;1.99e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.58e-09)|GBM - Glioblastoma multiforme(59;0.000162)|STAD - Stomach adenocarcinoma(60;0.000543)|LUSC - Lung squamous cell carcinoma(193;0.096)		CTCCAACTGTGCCCAGTTATC	0.368													28	48					0	0	1	0	0	A	177114617	G	A	177114617	3	1	81	1	0	0	0	0	1	0	0	0	15066	1319	46	2	602	2	SPATA4	4	177114617	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	20130	177114617	14039659	4181	7797											
ASB5	140458	broad.mit.edu	37	4	177142710	177142710	+	Silent	SNP	G	G	A	rs147166381		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:177142710G>A	ENST00000296525.3	-	4	539	c.426C>T	c.(424-426)aaC>aaT	p.N142N	ASB5_ENST00000511879.1_5'UTR|ASB5_ENST00000512254.1_Silent_p.N89N	NM_080874.3	NP_543150.1	Q8WWX0	ASB5_HUMAN	ankyrin repeat and SOCS box containing 5	142					intracellular signal transduction					endometrium(2)|kidney(1)|large_intestine(9)|lung(18)|prostate(2)|skin(2)	34		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.13e-20)|Epithelial(43;9.94e-18)|OV - Ovarian serous cystadenocarcinoma(60;2e-09)|GBM - Glioblastoma multiforme(59;0.000254)|STAD - Stomach adenocarcinoma(60;0.000653)|LUSC - Lung squamous cell carcinoma(193;0.0393)		GGGAGCATGCGTTGAATAACG	0.478													9	52					0	0	1	0	0	A	177142710	G	A	177142710	2	1	81	1	0	0	0	0	0	0	0	1	1025	1136	40	1		1	ASB5	4	177142710	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	28093	177142710	14011566	4182	7798											
NEIL3	55247	broad.mit.edu	37	4	178274725	178274725	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:178274725A>G	ENST00000264596.3	+	8	1421	c.1303A>G	c.(1303-1305)Aag>Gag	p.K435E	RP11-376O6.2_ENST00000506895.1_RNA	NM_018248.2	NP_060718	Q8TAT5	NEIL3_HUMAN	nei endonuclease VIII-like 3 (E. coli)	435					base-excision repair|nucleotide-excision repair	nucleus	bubble DNA binding|damaged DNA binding|DNA N-glycosylase activity|DNA-(apurinic or apyrimidinic site) lyase activity|double-stranded DNA binding|single-stranded DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.164)		all cancers(43;1.96e-23)|Epithelial(43;2.52e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.89e-11)|GBM - Glioblastoma multiforme(59;9.49e-05)|Colorectal(24;0.00013)|COAD - Colon adenocarcinoma(29;0.000696)|STAD - Stomach adenocarcinoma(60;0.00308)|LUSC - Lung squamous cell carcinoma(193;0.0398)|READ - Rectum adenocarcinoma(43;0.191)		CCCCTCCAAGAAGACAACAAA	0.358								Base excision repair (BER), DNA glycosylases					6	62					0	0	1	0	0	G	178274725	A	G	178274725	3	3	81	1	0	0	0	0	1	0	0	0	10367	247	9	3	1333	3	NEIL3	4	178274725	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	1132015	178274725	12879551	4183	7799											
NEIL3	55247	broad.mit.edu	37	4	178283482	178283482	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:178283482C>T	ENST00000264596.3	+	10	1793	c.1675C>T	c.(1675-1677)Cgt>Tgt	p.R559C		NM_018248.2	NP_060718	Q8TAT5	NEIL3_HUMAN	nei endonuclease VIII-like 3 (E. coli)	559					base-excision repair|nucleotide-excision repair	nucleus	bubble DNA binding|damaged DNA binding|DNA N-glycosylase activity|DNA-(apurinic or apyrimidinic site) lyase activity|double-stranded DNA binding|single-stranded DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.164)		all cancers(43;1.96e-23)|Epithelial(43;2.52e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.89e-11)|GBM - Glioblastoma multiforme(59;9.49e-05)|Colorectal(24;0.00013)|COAD - Colon adenocarcinoma(29;0.000696)|STAD - Stomach adenocarcinoma(60;0.00308)|LUSC - Lung squamous cell carcinoma(193;0.0398)|READ - Rectum adenocarcinoma(43;0.191)		CCATGGCAAGCGTTCCACCAT	0.373								Base excision repair (BER), DNA glycosylases					26	54					0	0	1	0	0	T	178283482	C	T	178283482	3	4	81	1	0	0	0	0	1	0	0	0	10367	768	27	1	1713	1	NEIL3	4	178283482	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	8757	178283482	12870794	4184	7800											
DCTD	1635	broad.mit.edu	37	4	183814219	183814219	+	Silent	SNP	C	C	T	rs147036938	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:183814219C>T	ENST00000438320.2	-	5	713	c.423G>A	c.(421-423)gcG>gcA	p.A141A	DCTD_ENST00000357067.3_Silent_p.A152A|DCTD_ENST00000510370.1_Silent_p.A141A	NM_001921.2	NP_001912.2	P32321	DCTD_HUMAN	dCMP deaminase	141					nucleotide biosynthetic process|pyrimidine base metabolic process|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide metabolic process	cytosol	dCMP deaminase activity|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|urinary_tract(1)	18		all_lung(41;5.16e-14)|Lung NSC(41;1.33e-13)|Colorectal(36;0.00666)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.202)		all cancers(43;1.65e-24)|Epithelial(43;3.44e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.39e-10)|Colorectal(24;4.69e-07)|COAD - Colon adenocarcinoma(29;7.07e-05)|STAD - Stomach adenocarcinoma(60;0.000118)|GBM - Glioblastoma multiforme(59;0.000472)|LUSC - Lung squamous cell carcinoma(40;0.00984)|READ - Rectum adenocarcinoma(43;0.0419)		ACAGGAGCCTCGCAGCAGTTG	0.498													4	22					0	0	1	0	0	T	183814219	C	T	183814219	2	4	81	1	0	0	0	0	0	0	0	1	4328	871	31	1		1	DCTD	4	183814219	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	5530737	183814219	7340057	4185	7801											
WWC2	80014	broad.mit.edu	37	4	184175070	184175070	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:184175070G>A	ENST00000403733.3	+	9	1313	c.1114G>A	c.(1114-1116)Gaa>Aaa	p.E372K	WWC2_ENST00000378925.3_Missense_Mutation_p.E274K|WWC2_ENST00000513834.1_Missense_Mutation_p.E372K|WWC2_ENST00000448232.2_Missense_Mutation_p.E372K|WWC2_ENST00000504005.1_Missense_Mutation_p.E54K	NM_024949.5	NP_079225.5	Q6AWC2	WWC2_HUMAN	WW and C2 domain containing 2	372										NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	32		all_lung(41;5.28e-14)|Lung NSC(41;1.35e-13)|Colorectal(36;0.00681)|Hepatocellular(41;0.00886)|Renal(120;0.00992)|Prostate(90;0.0237)|all_hematologic(60;0.0592)|Esophageal squamous(56;0.179)|all_neural(102;0.202)		all cancers(43;3.38e-24)|Epithelial(43;1.4e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.09e-09)|GBM - Glioblastoma multiforme(59;3.33e-05)|Colorectal(24;3.58e-05)|STAD - Stomach adenocarcinoma(60;4.21e-05)|COAD - Colon adenocarcinoma(29;0.000171)|LUSC - Lung squamous cell carcinoma(40;0.0145)|READ - Rectum adenocarcinoma(43;0.242)		AGATGAATTAGAACGCCTAGA	0.458													12	13					0	0	1	0	0	A	184175070	G	A	184175070	3	1	81	1	0	0	0	0	1	0	0	0	17472	943	33	2	1148	2	WWC2	4	184175070	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	360851	184175070	6979206	4186	7802											
CLDN22	53842	broad.mit.edu	37	4	184240733	184240733	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:184240733C>T	ENST00000323319.5	-	1	1194	c.639G>A	c.(637-639)acG>acA	p.T213T	WWC2_ENST00000403733.3_3'UTR	NM_001111319.1	NP_001104789.1	Q8N7P3	CLD22_HUMAN	claudin 22	213					calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity			cervix(1)|kidney(1)|lung(3)|prostate(1)|skin(1)	7		all_lung(41;6.9e-12)|Lung NSC(41;1.28e-11)|Colorectal(36;0.0172)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)|Esophageal squamous(56;0.176)		all cancers(43;4.1e-26)|Epithelial(43;6.45e-22)|OV - Ovarian serous cystadenocarcinoma(60;7.64e-10)|Colorectal(24;5.87e-06)|GBM - Glioblastoma multiforme(59;6.5e-06)|STAD - Stomach adenocarcinoma(60;2.09e-05)|COAD - Colon adenocarcinoma(29;5.15e-05)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)		TGGTGTTTCTCGTCTCCAGTT	0.542													99	202					0	0	1	0	0	T	184240733	C	T	184240733	2	4	81	1	0	0	0	0	0	0	0	1	3506	871	31	1		1	CLDN22	4	184240733	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	65663	184240733	6913543	4187	7803											
CLDN22	53842	broad.mit.edu	37	4	184241250	184241250	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:184241250delT	ENST00000323319.5	-	1	677	c.122delA	c.(121-123)aatfs	p.N41fs	WWC2_ENST00000403733.3_3'UTR	NM_001111319.1	NP_001104789.1	Q8N7P3	CLD22_HUMAN	claudin 22	41					calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity			cervix(1)|kidney(1)|lung(3)|prostate(1)|skin(1)	7		all_lung(41;6.9e-12)|Lung NSC(41;1.28e-11)|Colorectal(36;0.0172)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)|Esophageal squamous(56;0.176)		all cancers(43;4.1e-26)|Epithelial(43;6.45e-22)|OV - Ovarian serous cystadenocarcinoma(60;7.64e-10)|Colorectal(24;5.87e-06)|GBM - Glioblastoma multiforme(59;6.5e-06)|STAD - Stomach adenocarcinoma(60;2.09e-05)|COAD - Colon adenocarcinoma(29;5.15e-05)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)		TTCCATTTCATTTAAGTCCAG	0.468													8	111	---	---	---	---						-	184241250	T	-	184241250	7	5	81	1	0	1	0	1	0	0	0	0	3506	1493	52	0	544	0	CLDN22	4	184241250	Frame_Shift_Del	DEL	T	TCGA-DU-6392-01A-11D-1705-08	517	184241250	6913026	4188	7804											
CDKN2AIP	55602	broad.mit.edu	37	4	184366750	184366750	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:184366750C>A	ENST00000504169.1	+	2	542	c.335C>A	c.(334-336)gCt>gAt	p.A112D	CDKN2AIP_ENST00000302350.4_Missense_Mutation_p.A112D|CDKN2AIP_ENST00000510928.1_Missense_Mutation_p.A112D|CDKN2AIP_ENST00000506835.1_3'UTR	NM_017632.2	NP_060102.1	Q9NXV6	CARF_HUMAN	CDKN2A interacting protein	112					negative regulation of cell growth|positive regulation of signal transduction|regulation of protein stability	granular component|nucleoplasm	double-stranded RNA binding|p53 binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(1)	6		all_lung(41;6.9e-12)|Lung NSC(41;1.28e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;1.15e-26)|Epithelial(43;2.98e-22)|OV - Ovarian serous cystadenocarcinoma(60;7.64e-10)|GBM - Glioblastoma multiforme(59;4.22e-06)|Colorectal(24;5.87e-06)|STAD - Stomach adenocarcinoma(60;2.09e-05)|COAD - Colon adenocarcinoma(29;5.15e-05)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)		GTGACAGATGCTCCAACCTAT	0.363													39	42					8.16277e-20	1.0641e-19	1	1	0	A	184366750	C	A	184366750	3	1	81	1	0	0	0	0	1	0	0	0	3184	797	28	4	341	4	CDKN2AIP	4	184366750	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	125500	184366750	6787526	4189	7805											
CDKN2AIP	55602	broad.mit.edu	37	4	184367411	184367411	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:184367411C>T	ENST00000504169.1	+	3	781	c.574C>T	c.(574-576)Cgg>Tgg	p.R192W	CDKN2AIP_ENST00000302350.4_3'UTR|CDKN2AIP_ENST00000506835.1_3'UTR	NM_017632.2	NP_060102.1	Q9NXV6	CARF_HUMAN	CDKN2A interacting protein	192	Ser-rich.				negative regulation of cell growth|positive regulation of signal transduction|regulation of protein stability	granular component|nucleoplasm	double-stranded RNA binding|p53 binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(1)	6		all_lung(41;6.9e-12)|Lung NSC(41;1.28e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;1.15e-26)|Epithelial(43;2.98e-22)|OV - Ovarian serous cystadenocarcinoma(60;7.64e-10)|GBM - Glioblastoma multiforme(59;4.22e-06)|Colorectal(24;5.87e-06)|STAD - Stomach adenocarcinoma(60;2.09e-05)|COAD - Colon adenocarcinoma(29;5.15e-05)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)		GAACTCAGCTCGGAGCTCTGG	0.512													19	30					0	0	1	0	0	T	184367411	C	T	184367411	3	4	81	1	0	0	0	0	1	0	0	0	3184	875	31	1	584	1	CDKN2AIP	4	184367411	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	661	184367411	6786865	4190	7806											
STOX2	56977	broad.mit.edu	37	4	184930405	184930405	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:184930405C>T	ENST00000308497.4	+	3	1849	c.414C>T	c.(412-414)atC>atT	p.I138I	STOX2_ENST00000438269.1_Silent_p.I138I	NM_020225.1	NP_064610.1	Q9P2F5	STOX2_HUMAN	storkhead box 2	138					embryo development|maternal placenta development					breast(1)|endometrium(7)|lung(6)	14		all_lung(41;1.89e-12)|Lung NSC(41;3.48e-12)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|all_hematologic(60;0.027)|Prostate(90;0.0283)		all cancers(43;2.85e-26)|Epithelial(43;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-10)|Colorectal(24;8.23e-06)|GBM - Glioblastoma multiforme(59;1.64e-05)|STAD - Stomach adenocarcinoma(60;3.6e-05)|COAD - Colon adenocarcinoma(29;4.37e-05)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.227)		GCTACTTCATCGTGACCCCAC	0.493													10	10					0	0	1	0	0	T	184930405	C	T	184930405	2	4	81	1	0	0	0	0	0	0	0	1	15376	874	31	1		1	STOX2	4	184930405	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	562994	184930405	6223871	4191	7807											
STOX2	56977	broad.mit.edu	37	4	184930527	184930527	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:184930527C>T	ENST00000308497.4	+	3	1971	c.536C>T	c.(535-537)aCg>aTg	p.T179M	STOX2_ENST00000438269.1_Missense_Mutation_p.T179M	NM_020225.1	NP_064610.1	Q9P2F5	STOX2_HUMAN	storkhead box 2	179					embryo development|maternal placenta development					breast(1)|endometrium(7)|lung(6)	14		all_lung(41;1.89e-12)|Lung NSC(41;3.48e-12)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|all_hematologic(60;0.027)|Prostate(90;0.0283)		all cancers(43;2.85e-26)|Epithelial(43;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-10)|Colorectal(24;8.23e-06)|GBM - Glioblastoma multiforme(59;1.64e-05)|STAD - Stomach adenocarcinoma(60;3.6e-05)|COAD - Colon adenocarcinoma(29;4.37e-05)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.227)		GGGACCATCACGCCCTCTGCC	0.557													23	60					0	0	1	0	0	T	184930527	C	T	184930527	3	4	81	1	0	0	0	0	1	0	0	0	15376	536	19	1	546	1	STOX2	4	184930527	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	122	184930527	6223749	4192	7808											
ENPP6	133121	broad.mit.edu	37	4	185074733	185074733	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:185074733C>A	ENST00000296741.2	-	2	536	c.395G>T	c.(394-396)aGg>aTg	p.R132M		NM_153343.3	NP_699174.1	Q6UWR7	ENPP6_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 6	132					lipid catabolic process	extracellular region|integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(2)	15		all_lung(41;7.99e-12)|Lung NSC(41;1.46e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;4.98e-27)|Epithelial(43;3.15e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.09e-12)|Colorectal(24;3.78e-05)|STAD - Stomach adenocarcinoma(60;4.5e-05)|COAD - Colon adenocarcinoma(29;0.000154)|GBM - Glioblastoma multiforme(59;0.000167)|BRCA - Breast invasive adenocarcinoma(30;0.000378)|LUSC - Lung squamous cell carcinoma(40;0.0151)		GTAGACCTTCCTTTTGGCCTT	0.473													14	23					1.3612e-06	1.56842e-06	1	1	0	A	185074733	C	A	185074733	3	1	81	1	0	0	0	0	1	0	0	0	5162	681	24	4	955	4	ENPP6	4	185074733	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	144206	185074733	6079543	4193	7809											
IRF2	3660	broad.mit.edu	37	4	185320164	185320164	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:185320164C>T	ENST00000393593.3	-	7	806	c.599G>A	c.(598-600)tGc>tAc	p.C200Y		NM_002199.3	NP_002190.2	P14316	IRF2_HUMAN	interferon regulatory factor 2	200					blood coagulation|cell proliferation|interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	focal adhesion|nucleoplasm	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(2)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	22		all_lung(41;7.86e-14)|Lung NSC(41;1.87e-13)|Colorectal(36;0.00146)|Hepatocellular(41;0.00826)|Renal(120;0.00992)|Prostate(90;0.0115)|all_neural(102;0.0573)|all_hematologic(60;0.0592)		all cancers(43;3.94e-27)|Epithelial(43;5.3e-24)|OV - Ovarian serous cystadenocarcinoma(60;1.06e-10)|Colorectal(24;7.98e-07)|STAD - Stomach adenocarcinoma(60;3.95e-05)|GBM - Glioblastoma multiforme(59;8.3e-05)|COAD - Colon adenocarcinoma(29;0.000106)|BRCA - Breast invasive adenocarcinoma(30;0.000311)|LUSC - Lung squamous cell carcinoma(40;0.0128)|READ - Rectum adenocarcinoma(43;0.0419)		TACAACTTGGCAAATGTCTGG	0.507													6	52					0	0	1	0	0	T	185320164	C	T	185320164	3	4	81	1	0	0	0	0	1	0	0	0	7872	710	25	2	462	2	IRF2	4	185320164	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	245431	185320164	5834112	4194	7810											
ACSL1	2180	broad.mit.edu	37	4	185684330	185684330	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:185684330G>A	ENST00000515030.1	-	16	1837	c.1512C>T	c.(1510-1512)ggC>ggT	p.G504G	ACSL1_ENST00000454703.2_Silent_p.G333G|ACSL1_ENST00000281455.2_Silent_p.G504G|ACSL1_ENST00000507295.1_Silent_p.G470G|ACSL1_ENST00000513317.1_Silent_p.G504G|ACSL1_ENST00000437665.3_Silent_p.G333G|ACSL1_ENST00000504342.1_Silent_p.G504G			P33121	ACSL1_HUMAN	acyl-CoA synthetase long-chain family member 1	504					digestion|fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|regulation of fatty acid oxidation|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(17)|ovary(2)|prostate(1)|skin(2)	38		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00172)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0315)|all_neural(102;0.107)|Medulloblastoma(177;0.146)		all cancers(43;1.33e-28)|Epithelial(43;5.3e-25)|OV - Ovarian serous cystadenocarcinoma(60;4.88e-11)|Colorectal(24;3.59e-06)|STAD - Stomach adenocarcinoma(60;2.72e-05)|GBM - Glioblastoma multiforme(59;2.83e-05)|BRCA - Breast invasive adenocarcinoma(30;7.66e-05)|COAD - Colon adenocarcinoma(29;0.000538)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.0419)	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	CCTCGCCCTCGCCCTCGGCAG	0.478													12	23					0	0	1	0	0	A	185684330	G	A	185684330	2	1	81	1	0	0	0	0	0	0	0	1	177	1074	38	1		1	ACSL1	4	185684330	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	364166	185684330	5469946	4195	7811											
SNX25	83891	broad.mit.edu	37	4	186283234	186283234	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:186283234G>A	ENST00000504273.1	+	17	2610	c.2316G>A	c.(2314-2316)caG>caA	p.Q772Q	SNX25_ENST00000264694.8_Silent_p.Q772Q|SNX25_ENST00000512853.1_3'UTR			Q9H3E2	SNX25_HUMAN	sorting nexin 25	772					cell communication|protein transport	endosome membrane	phosphatidylinositol binding|signal transducer activity			NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(8)|lung(13)|ovary(2)|pancreas(2)|prostate(2)|urinary_tract(2)	40		all_lung(41;1.03e-13)|Lung NSC(41;2.5e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		all cancers(43;2.13e-24)|Epithelial(43;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.6e-11)|BRCA - Breast invasive adenocarcinoma(30;0.00013)|Colorectal(24;0.000165)|GBM - Glioblastoma multiforme(59;0.000357)|COAD - Colon adenocarcinoma(29;0.000887)|STAD - Stomach adenocarcinoma(60;0.00118)|LUSC - Lung squamous cell carcinoma(40;0.0129)|READ - Rectum adenocarcinoma(43;0.228)		AGAGAGCACAGCAAAAGCTGC	0.453													9	10					0	0	1	0	0	A	186283234	G	A	186283234	2	1	81	1	0	0	0	0	0	0	0	1	14950	962	34	2		2	SNX25	4	186283234	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	598904	186283234	4871042	4196	7812											
LRP2BP	55805	broad.mit.edu	37	4	186288381	186288381	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:186288381C>T	ENST00000362004.3	-	8	1814	c.1003G>A	c.(1003-1005)Gca>Aca	p.A335T	LRP2BP_ENST00000505916.1_Missense_Mutation_p.A333T|LRP2BP_ENST00000510776.1_Missense_Mutation_p.A307T|LRP2BP_ENST00000328559.7_Missense_Mutation_p.A333T			Q9P2M1	LR2BP_HUMAN	LRP2 binding protein	333						cytoplasm	protein binding			breast(1)|endometrium(2)|large_intestine(6)|lung(3)|prostate(1)|skin(2)	15		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;0.00109)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;2.14e-25)|Epithelial(43;1.55e-22)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-11)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.000132)|STAD - Stomach adenocarcinoma(60;0.000766)|Colorectal(24;0.00116)|LUSC - Lung squamous cell carcinoma(40;0.00904)|COAD - Colon adenocarcinoma(29;0.0101)|READ - Rectum adenocarcinoma(43;0.161)		TCTGCCAATGCGGGATTCAGA	0.323													49	71					0	0	1	0	0	T	186288381	C	T	186288381	3	4	81	1	0	0	0	0	1	0	0	0	9002	768	27	1	50	1	LRP2BP	4	186288381	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	5147	186288381	4865895	4197	7813											
SORBS2	8470	broad.mit.edu	37	4	186536048	186536048	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:186536048G>A	ENST00000431808.1	-	18	3383	c.2820C>T	c.(2818-2820)atC>atT	p.I940I	SORBS2_ENST00000393528.3_Silent_p.I506I|SORBS2_ENST00000355634.5_Silent_p.I1040I|SORBS2_ENST00000449407.2_Silent_p.I484I|SORBS2_ENST00000319471.9_Silent_p.I571I|SORBS2_ENST00000284776.7_Silent_p.I940I|SORBS2_ENST00000437304.2_Silent_p.I664I|SORBS2_ENST00000448662.2_Silent_p.I501I|SORBS2_ENST00000498125.1_5'UTR|SORBS2_ENST00000418609.1_Silent_p.I844I			O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	940	SH3 2.					actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		TAGCTTCTCCGATTTCTCCGG	0.453													36	63					0	0	1	0	0	A	186536048	G	A	186536048	2	1	81	1	0	0	0	0	0	0	0	1	14982	1048	37	1		1	SORBS2	4	186536048	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	247667	186536048	4618228	4198	7814											
SORBS2	8470	broad.mit.edu	37	4	186536109	186536109	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:186536109A>T	ENST00000431808.1	-	18	3322	c.2759T>A	c.(2758-2760)cTc>cAc	p.L920H	SORBS2_ENST00000393528.3_Missense_Mutation_p.L486H|SORBS2_ENST00000355634.5_Missense_Mutation_p.L1020H|SORBS2_ENST00000449407.2_Missense_Mutation_p.L464H|SORBS2_ENST00000319471.9_Missense_Mutation_p.L551H|SORBS2_ENST00000284776.7_Missense_Mutation_p.L920H|SORBS2_ENST00000437304.2_Missense_Mutation_p.L644H|SORBS2_ENST00000448662.2_Missense_Mutation_p.L481H|SORBS2_ENST00000498125.1_5'UTR|SORBS2_ENST00000418609.1_Missense_Mutation_p.L824H			O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	920	SH3 1.					actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		AGGAGGTGTGAGTTTCTATGA	0.493													7	99					0	0	1	0	0	T	186536109	A	T	186536109	3	4	81	1	0	0	0	0	1	0	0	0	14982	304	11	5	563	5	SORBS2	4	186536109	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	61	186536109	4618167	4199	7815											
SORBS2	8470	broad.mit.edu	37	4	186544169	186544169	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:186544169T>C	ENST00000431808.1	-	14	2965	c.2402A>G	c.(2401-2403)tAc>tGc	p.Y801C	SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000355634.5_Missense_Mutation_p.Y901C|SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000284776.7_Missense_Mutation_p.Y801C|SORBS2_ENST00000437304.2_Intron|SORBS2_ENST00000448662.2_Intron|SORBS2_ENST00000498125.1_Intron|SORBS2_ENST00000418609.1_Missense_Mutation_p.Y705C			O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	801						actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		GTCATTCTGGTAGGGTGGACA	0.612													36	71					0	0	1	0	0	C	186544169	T	C	186544169	3	2	81	1	0	0	0	0	1	0	0	0	14982	1638	57	3	936	3	SORBS2	4	186544169	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	8060	186544169	4610107	4200	7816											
SORBS2	8470	broad.mit.edu	37	4	186544816	186544816	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:186544816G>A	ENST00000431808.1	-	14	2318	c.1755C>T	c.(1753-1755)agC>agT	p.S585S	SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000355634.5_Silent_p.S685S|SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000284776.7_Silent_p.S585S|SORBS2_ENST00000437304.2_Intron|SORBS2_ENST00000448662.2_Intron|SORBS2_ENST00000498125.1_Intron|SORBS2_ENST00000418609.1_Silent_p.S489S			O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	585						actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		GCTGCTCATCGCTGGTGACTT	0.592													22	32					0	0	1	0	0	A	186544816	G	A	186544816	2	1	81	1	0	0	0	0	0	0	0	1	14982	1078	38	1		1	SORBS2	4	186544816	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	647	186544816	4609460	4201	7817											
SORBS2	8470	broad.mit.edu	37	4	186573858	186573858	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:186573858A>G	ENST00000431808.1	-	8	855	c.292T>C	c.(292-294)Tac>Cac	p.Y98H	SORBS2_ENST00000393528.3_Missense_Mutation_p.Y144H|SORBS2_ENST00000355634.5_Missense_Mutation_p.Y198H|SORBS2_ENST00000449407.2_Missense_Mutation_p.Y184H|SORBS2_ENST00000319471.9_Missense_Mutation_p.Y184H|SORBS2_ENST00000284776.7_Missense_Mutation_p.Y98H|SORBS2_ENST00000437304.2_Missense_Mutation_p.Y277H|SORBS2_ENST00000448662.2_Missense_Mutation_p.Y167H|SORBS2_ENST00000498125.1_5'UTR|SORBS2_ENST00000418609.1_Missense_Mutation_p.Y17H			O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	98	SoHo.					actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		ATCGTCTTGTACCAGTCCTTG	0.473													5	61					0	0	1	0	0	G	186573858	A	G	186573858	3	3	81	1	0	0	0	0	1	0	0	0	14982	391	14	3	3382	3	SORBS2	4	186573858	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	29042	186573858	4580418	4202	7818											
TLR3	7098	broad.mit.edu	37	4	187003547	187003547	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:187003547G>A	ENST00000296795.3	+	4	811	c.707G>A	c.(706-708)aGc>aAc	p.S236N	TLR3_ENST00000508051.1_3'UTR|TLR3_ENST00000504367.1_5'UTR	NM_003265.2	NP_003256.1	O15455	TLR3_HUMAN	toll-like receptor 3						activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|defense response to bacterium|defense response to virus|detection of virus|hyperosmotic response|I-kappaB phosphorylation|inflammatory response|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of osteoclast differentiation|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 3 signaling pathway	endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane	double-stranded RNA binding|transmembrane receptor activity	p.S236T(1)		breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)		CTGGGTCCCAGCCTTACAGAG	0.428													56	78					0	0	1	0	0	A	187003547	G	A	187003547	3	1	81	1	0	0	0	0	1	0	0	0	16012	971	34	2	717	2	TLR3	4	187003547	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	429689	187003547	4150729	4203	7819											
TLR3	7098	broad.mit.edu	37	4	187004162	187004162	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:187004162A>C	ENST00000296795.3	+	4	1426	c.1322A>C	c.(1321-1323)aAt>aCt	p.N441T	TLR3_ENST00000504367.1_Missense_Mutation_p.N164T	NM_003265.2	NP_003256.1	O15455	TLR3_HUMAN	toll-like receptor 3						activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|defense response to bacterium|defense response to virus|detection of virus|hyperosmotic response|I-kappaB phosphorylation|inflammatory response|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of osteoclast differentiation|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 3 signaling pathway	endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane	double-stranded RNA binding|transmembrane receptor activity			breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)		CTGGGCCTTAATGAAATTGGG	0.418													4	60					0	0	1	0	0	C	187004162	A	C	187004162	3	2	81	1	0	0	0	0	1	0	0	0	16012	101	4	4	1332	4	TLR3	4	187004162	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	615	187004162	4150114	4204	7820											
TLR3	7098	broad.mit.edu	37	4	187004232	187004232	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:187004232C>A	ENST00000296795.3	+	4	1496	c.1392C>A	c.(1390-1392)tcC>tcA	p.S464S	TLR3_ENST00000504367.1_Silent_p.S187S	NM_003265.2	NP_003256.1	O15455	TLR3_HUMAN	toll-like receptor 3						activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|defense response to bacterium|defense response to virus|detection of virus|hyperosmotic response|I-kappaB phosphorylation|inflammatory response|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of osteoclast differentiation|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 3 signaling pathway	endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane	double-stranded RNA binding|transmembrane receptor activity			breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)		TCTATCTTTCCTACAACAAGT	0.468													36	52					7.04047e-22	9.23508e-22	1	1	0	A	187004232	C	A	187004232	2	1	81	1	0	0	0	0	0	0	0	1	16012	668	24	4		4	TLR3	4	187004232	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	70	187004232	4150044	4205	7821											
TLR3	7098	broad.mit.edu	37	4	187005136	187005136	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:187005136G>T	ENST00000296795.3	+	4	2400	c.2296G>T	c.(2296-2298)Gat>Tat	p.D766Y	TLR3_ENST00000504367.1_Missense_Mutation_p.D489Y	NM_003265.2	NP_003256.1	O15455	TLR3_HUMAN	toll-like receptor 3		TIR.				activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|defense response to bacterium|defense response to virus|detection of virus|hyperosmotic response|I-kappaB phosphorylation|inflammatory response|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of osteoclast differentiation|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 3 signaling pathway	endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane	double-stranded RNA binding|transmembrane receptor activity			breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)		TGCCTATAAAGATAAGGATTG	0.368													51	74					1.19451e-25	1.58128e-25	1	1	0	T	187005136	G	T	187005136	3	4	81	1	0	0	0	0	1	0	0	0	16012	942	33	4	2306	4	TLR3	4	187005136	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	904	187005136	4149140	4206	7822											
TLR3	7098	broad.mit.edu	37	4	187005843	187005843	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:187005843T>C	ENST00000296795.3	+	5	2635	c.2531T>C	c.(2530-2532)cTg>cCg	p.L844P	TLR3_ENST00000504367.1_Missense_Mutation_p.L567P	NM_003265.2	NP_003256.1	O15455	TLR3_HUMAN	toll-like receptor 3		TIR.				activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|defense response to bacterium|defense response to virus|detection of virus|hyperosmotic response|I-kappaB phosphorylation|inflammatory response|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of osteoclast differentiation|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 3 signaling pathway	endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane	double-stranded RNA binding|transmembrane receptor activity			breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)		GAACAAAATCTGGATTCCATT	0.338													27	21					0	0	1	0	0	C	187005843	T	C	187005843	3	2	81	1	0	0	0	0	1	0	0	0	16012	1580	55	3	2545	3	TLR3	4	187005843	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	707	187005843	4148433	4207	7823											
CYP4V2	285440	broad.mit.edu	37	4	187131752	187131752	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:187131752G>A	ENST00000378802.4	+	11	1839	c.1535G>A	c.(1534-1536)gGc>gAc	p.G512D	CYP4V2_ENST00000502665.1_3'UTR	NM_207352.3	NP_997235.3	Q6ZWL3	CP4V2_HUMAN	cytochrome P450, family 4, subfamily V, polypeptide 2	512					response to stimulus|visual perception	endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(1)|stomach(2)	20		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.33e-10)|BRCA - Breast invasive adenocarcinoma(30;3.84e-05)|GBM - Glioblastoma multiforme(59;0.000132)|STAD - Stomach adenocarcinoma(60;0.000293)|LUSC - Lung squamous cell carcinoma(40;0.00242)|READ - Rectum adenocarcinoma(43;0.17)		CCAAGTAATGGCATCTGGATC	0.398													17	37					0	0	1	0	0	A	187131752	G	A	187131752	3	1	81	1	0	0	0	0	1	0	0	0	4215	1203	42	2	1577	2	CYP4V2	4	187131752	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	125909	187131752	4022524	4208	7824											
KLKB1	3818	broad.mit.edu	37	4	187153431	187153431	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:187153431A>T	ENST00000264690.6	+	3	396	c.209A>T	c.(208-210)gAc>gTc	p.D70V	KLKB1_ENST00000513864.1_Missense_Mutation_p.D70V	NM_000892.3	NP_000883.2	P03952	KLKB1_HUMAN	kallikrein B, plasma (Fletcher factor) 1	70	Apple 1.				blood coagulation, intrinsic pathway|Factor XII activation|fibrinolysis|plasminogen activation|positive regulation of fibrinolysis	cytoplasm|extracellular space|plasma membrane	serine-type endopeptidase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	40		all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168)		TCAATCAATGACATGGAGAAA	0.398													19	58					0	0	1	0	0	T	187153431	A	T	187153431	3	4	81	1	0	0	0	0	1	0	0	0	8455	275	10	5	215	5	KLKB1	4	187153431	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	21679	187153431	4000845	4209	7825											
MTNR1A	4543	broad.mit.edu	37	4	187455433	187455433	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:187455433T>G	ENST00000307161.5	-	2	664	c.463A>C	c.(463-465)Acg>Ccg	p.T155P	RP11-215A19.2_ENST00000509111.1_Intron	NM_005958.3	NP_005949.1	P48039	MTR1A_HUMAN	melatonin receptor 1A	155					circadian rhythm|G-protein signaling, coupled to cyclic nucleotide second messenger|mating behavior	integral to plasma membrane	melatonin receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	14		all_cancers(14;6.39e-56)|all_epithelial(14;1.48e-41)|all_lung(41;2.45e-15)|Lung NSC(41;7.26e-15)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00335)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|Renal(120;0.0183)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;7.63e-12)|BRCA - Breast invasive adenocarcinoma(30;6.68e-07)|GBM - Glioblastoma multiforme(59;3.44e-05)|LUSC - Lung squamous cell carcinoma(40;0.000106)|STAD - Stomach adenocarcinoma(60;0.000279)|READ - Rectum adenocarcinoma(43;0.159)	Melatonin(DB01065)|Ramelteon(DB00980)	GCCGCCAGCGTCAGGAGCCAT	0.597													3	29					0	0	1	0	0	G	187455433	T	G	187455433	3	3	81	1	0	0	0	0	1	0	0	0	9999	1667	58	5	593	5	MTNR1A	4	187455433	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	302002	187455433	3698843	4210	7826											
FAT1	2195	broad.mit.edu	37	4	187521066	187521066	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:187521066G>A	ENST00000441802.2	-	22	12298	c.12089C>T	c.(12088-12090)cCg>cTg	p.P4030L		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	4030	EGF-like 2.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						AGCAGGTGACGGATTGCAAAC	0.512										HNSCC(5;0.00058)			13	28					0	0	1	0	0	A	187521066	G	A	187521066	3	1	81	1	0	0	0	0	1	0	0	0	5722	1116	39	1	1701	1	FAT1	4	187521066	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	65633	187521066	3633210	4211	7827											
FAT1	2195	broad.mit.edu	37	4	187524130	187524130	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:187524130G>A	ENST00000441802.2	-	20	11618	c.11409C>T	c.(11407-11409)tcC>tcT	p.S3803S		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	3803	EGF-like 1.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						ACACACATTCGGATCCCTCAG	0.517										HNSCC(5;0.00058)			39	54					0	0	1	0	0	A	187524130	G	A	187524130	2	1	81	1	0	0	0	0	0	0	0	1	5722	1103	39	1		1	FAT1	4	187524130	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	3064	187524130	3630146	4212	7828											
FAT1	2195	broad.mit.edu	37	4	187531103	187531103	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:187531103G>A	ENST00000441802.2	-	15	10129	c.9920C>T	c.(9919-9921)gCc>gTc	p.A3307V		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	3307	Cadherin 30.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TCCATCAGTGGCCTCTACTGT	0.438										HNSCC(5;0.00058)			8	14					0	0	1	0	0	A	187531103	G	A	187531103	3	1	81	1	0	0	0	0	1	0	0	0	5722	1203	42	2	3898	2	FAT1	4	187531103	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	6973	187531103	3623173	4213	7829											
FAT1	2195	broad.mit.edu	37	4	187539523	187539523	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:187539523T>C	ENST00000441802.2	-	10	8426	c.8217A>G	c.(8215-8217)aaA>aaG	p.K2739K		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2739	Cadherin 25.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						GAGTATTCCCTTTGACCAGGC	0.448										HNSCC(5;0.00058)			49	78					0	0	1	0	0	C	187539523	T	C	187539523	2	2	81	1	0	0	0	0	0	0	0	1	5722	1606	56	3		3	FAT1	4	187539523	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	8420	187539523	3614753	4214	7830											
FAT1	2195	broad.mit.edu	37	4	187541117	187541117	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:187541117C>T	ENST00000441802.2	-	10	6832	c.6623G>A	c.(6622-6624)aGc>aAc	p.S2208N		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2208	Cadherin 20.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						GCCTTCCGGGCTGTTAGCCTG	0.478										HNSCC(5;0.00058)			47	91					0	0	1	0	0	T	187541117	C	T	187541117	3	4	81	1	0	0	0	0	1	0	0	0	5722	797	28	2	7215	2	FAT1	4	187541117	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1594	187541117	3613159	4215	7831											
FAT1	2195	broad.mit.edu	37	4	187557909	187557909	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:187557909G>A	ENST00000441802.2	-	5	4011	c.3802C>T	c.(3802-3804)Cgg>Tgg	p.R1268W		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	1268	Cadherin 11.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						AGCGGCTCCCGTCTGGCATTT	0.473										HNSCC(5;0.00058)			88	119					0	0	1	0	0	A	187557909	G	A	187557909	3	1	81	1	0	0	0	0	1	0	0	0	5722	1144	40	1	10056	1	FAT1	4	187557909	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	16792	187557909	3596367	4216	7832											
ZFP42	132625	broad.mit.edu	37	4	188924294	188924294	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:188924294C>T	ENST00000326866.4	+	4	741	c.333C>T	c.(331-333)ttC>ttT	p.F111F	ZFP42_ENST00000509524.1_Silent_p.F111F	NM_174900.3	NP_777560.2	Q96MM3	ZFP42_HUMAN	ZFP42 zinc finger protein	111					female gonad development|male gonad development|meiosis	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)		AAAAGGTTTTCGAAGCAAGCT	0.408													29	52					0	0	1	0	0	T	188924294	C	T	188924294	2	4	81	1	0	0	0	0	0	0	0	1	17708	883	31	1		1	ZFP42	4	188924294	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1366385	188924294	2229982	4217	7833											
ZFP42	132625	broad.mit.edu	37	4	188924381	188924381	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:188924381G>A	ENST00000326866.4	+	4	828	c.420G>A	c.(418-420)tcG>tcA	p.S140S	ZFP42_ENST00000509524.1_Silent_p.S140S	NM_174900.3	NP_777560.2	Q96MM3	ZFP42_HUMAN	ZFP42 zinc finger protein	140					female gonad development|male gonad development|meiosis	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)		GAGAGAATTCGCTTGAGTATT	0.423													49	67					0	0	1	0	0	A	188924381	G	A	188924381	2	1	81	1	0	0	0	0	0	0	0	1	17708	1074	38	1		1	ZFP42	4	188924381	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	87	188924381	2229895	4218	7834											
TRIML2	205860	broad.mit.edu	37	4	189013034	189013034	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:189013034T>G	ENST00000512729.1	-	7	1031	c.657A>C	c.(655-657)agA>agC	p.R219S	TRIML2_ENST00000326754.3_Missense_Mutation_p.R244S	NM_173553.1	NP_775824.1	Q8N7C3	TRIMM_HUMAN	tripartite motif family-like 2	219	B30.2/SPRY.						ligase activity			central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1)	39		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)		ATCTCATAGTTCTCAGGTCCT	0.512													16	41					0	0	1	0	0	G	189013034	T	G	189013034	3	3	81	1	0	0	0	0	1	0	0	0	16612	1780	62	5	510	5	TRIML2	4	189013034	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	88653	189013034	2141242	4219	7835											
TRIML1	339976	broad.mit.edu	37	4	189063519	189063519	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:189063519G>T	ENST00000332517.3	+	3	758	c.618G>T	c.(616-618)gaG>gaT	p.E206D	RP11-366H4.3_ENST00000501322.2_RNA	NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	206					multicellular organismal development		ligase activity|zinc ion binding			NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		AAGAGAAAGAGAACATGAGGA	0.448													8	35					0.000157383	0.000171784	1	1	0	T	189063519	G	T	189063519	3	4	81	1	0	0	0	0	1	0	0	0	16611	933	33	4	628	4	TRIML1	4	189063519	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	50485	189063519	2090757	4220	7836											
TRIML1	339976	broad.mit.edu	37	4	189068102	189068102	+	Missense_Mutation	SNP	C	C	T	rs147254109		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:189068102C>T	ENST00000332517.3	+	6	1123	c.983C>T	c.(982-984)gCg>gTg	p.A328V	TRIML1_ENST00000507581.1_3'UTR	NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	328	B30.2/SPRY.				multicellular organismal development		ligase activity|zinc ion binding	p.A328V(1)		NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		GACCAGTCTGCGACTGTGCTG	0.537													32	45					0	0	1	0	0	T	189068102	C	T	189068102	3	4	81	1	0	0	0	0	1	0	0	0	16611	768	27	1	1005	1	TRIML1	4	189068102	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	4583	189068102	2086174	4221	7837											
PLEKHG4B	153478	broad.mit.edu	37	5	163454	163454	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:163454T>C	ENST00000283426.6	+	11	2249	c.2199T>C	c.(2197-2199)ccT>ccC	p.P733P		NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4B	733					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		TCGAGATACCTCAGCCCGACA	0.567													12	108					0	0	1	0	0	C	163454	T	C	163454	2	2	81	1	0	0	0	0	0	0	0	1	12120	1538	54	3		3	PLEKHG4B	5	163454	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08		163454	180751806	4222	7838											
PLEKHG4B	153478	broad.mit.edu	37	5	169510	169510	+	Missense_Mutation	SNP	C	C	T	rs149174138	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:169510C>T	ENST00000283426.6	+	12	2514	c.2464C>T	c.(2464-2466)Cgg>Tgg	p.R822W		NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4B	822	DH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	p.R822R(1)|p.R13R(1)		endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		GGAGTACATTCGGTGCTTAGG	0.552													43	79					0	0	1	0	0	T	169510	C	T	169510	3	4	81	1	0	0	0	0	1	0	0	0	12120	875	31	1	2510	1	PLEKHG4B	5	169510	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	6056	169510	180745750	4223	7839											
LRRC14B	389257	broad.mit.edu	37	5	195094	195094	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:195094C>T	ENST00000328278.3	+	2	1199	c.1171C>T	c.(1171-1173)Cgc>Tgc	p.R391C		NM_001080478.1	NP_001073947.1	A6NHZ5	LR14B_HUMAN	leucine rich repeat containing 14B	391										endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)|upper_aerodigestive_tract(2)	10						CCACCGGCTGCGCCAGCTCAA	0.672													8	8					0	0	1	0	0	T	195094	C	T	195094	3	4	81	1	0	0	0	0	1	0	0	0	9014	768	27	1	1177	1	LRRC14B	5	195094	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	25584	195094	180720166	4224	7840											
AHRR	57491	broad.mit.edu	37	5	432971	432971	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:432971G>A	ENST00000316418.5	+	11	1131	c.1087G>A	c.(1087-1089)Gct>Act	p.A363T	AHRR_ENST00000512529.1_Missense_Mutation_p.A191T|AHRR_ENST00000506456.1_Missense_Mutation_p.A201T|AHRR_ENST00000505113.1_Missense_Mutation_p.A345T	NM_020731.4	NP_065782.2	A9YTQ3	AHRR_HUMAN	aryl-hydrocarbon receptor repressor	345					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1)	20			Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)			ACAGACTGACGCTGGCCGATG	0.657													8	16					0	0	1	0	0	A	432971	G	A	432971	3	1	81	1	0	0	0	0	1	0	0	0	414	1087	38	1	1129	1	AHRR	5	432971	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	237877	432971	180482289	4225	7841											
AHRR	57491	broad.mit.edu	37	5	434145	434145	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:434145C>T	ENST00000316418.5	+	12	1400	c.1356C>T	c.(1354-1356)ccC>ccT	p.P452P	AHRR_ENST00000512529.1_Silent_p.P280P|AHRR_ENST00000506456.1_Silent_p.P290P|AHRR_ENST00000505113.1_Silent_p.P434P	NM_020731.4	NP_065782.2	A9YTQ3	AHRR_HUMAN	aryl-hydrocarbon receptor repressor	434					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1)	20			Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)			GCCCCATGCCCCGCGGCTCCT	0.692													8	12					0	0	1	0	0	T	434145	C	T	434145	2	4	81	1	0	0	0	0	0	0	0	1	414	610	22	2		2	AHRR	5	434145	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1174	434145	180481115	4226	7842											
C5orf55	116349	broad.mit.edu	37	5	442595	442595	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:442595C>T	ENST00000408966.2	-	1	663	c.343G>A	c.(343-345)Gca>Aca	p.A115T		NM_138464.2	NP_612473.1	Q8N2X6	CE055_HUMAN	chromosome 5 open reading frame 55	115						extracellular region				large_intestine(1)|lung(2)	3						CGGCCCTCTGCAGCGCGGCCC	0.642													5	48					0	0	1	0	0	T	442595	C	T	442595	3	4	81	1	0	0	0	0	1	0	0	0	2326	710	25	2	20	2	C5orf55	5	442595	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	8450	442595	180472665	4227	7843											
EXOC3	11336	broad.mit.edu	37	5	457018	457018	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:457018G>A	ENST00000512944.1	+	5	1250	c.1061G>A	c.(1060-1062)aGg>aAg	p.R354K	EXOC3_ENST00000315013.5_Missense_Mutation_p.R354K	NM_007277.4	NP_009208.2	O60645	EXOC3_HUMAN	exocyst complex component 3	365					exocytosis|protein transport					breast(2)|cervix(1)|endometrium(4)|large_intestine(1)|lung(13)|ovary(1)|urinary_tract(1)	23		Ovarian(839;0.0563)	Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			GAGATGATGAGGAACGTGGAG	0.547													11	16					0	0	1	0	0	A	457018	G	A	457018	3	1	81	1	0	0	0	0	1	0	0	0	5330	1000	35	2	1075	2	EXOC3	5	457018	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	14423	457018	180458242	4228	7844											
SLC9A3	6550	broad.mit.edu	37	5	476767	476767	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:476767A>G	ENST00000264938.3	-	12	1790	c.1781T>C	c.(1780-1782)gTc>gCc	p.V594A	SLC9A3_ENST00000514375.1_Missense_Mutation_p.V585A|CTD-2228K2.7_ENST00000607286.1_RNA	NM_004174.2	NP_004165.2	P48764	SL9A3_HUMAN	solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3	594	Interaction with PDZD3 (By similarity).					cell surface|integral to membrane	sodium:hydrogen antiporter activity			NS(2)|biliary_tract(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(16)|prostate(3)|skin(2)|urinary_tract(1)	37			Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			GTCCAGGCAGACAGCGCTGAC	0.657													6	13					0	0	1	0	0	G	476767	A	G	476767	3	3	81	1	0	0	0	0	1	0	0	0	14768	275	10	3	747	3	SLC9A3	5	476767	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	19749	476767	180438493	4229	7845											
SLC9A3	6550	broad.mit.edu	37	5	479971	479971	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:479971C>T	ENST00000264938.3	-	10	1636	c.1627G>A	c.(1627-1629)Gcc>Acc	p.A543T	CTD-2228K2.7_ENST00000607005.1_RNA|SLC9A3_ENST00000514375.1_Missense_Mutation_p.A534T|CTD-2228K2.7_ENST00000607286.1_RNA|CTD-2228K2.7_ENST00000606288.1_RNA	NM_004174.2	NP_004165.2	P48764	SL9A3_HUMAN	solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3	543						cell surface|integral to membrane	sodium:hydrogen antiporter activity			NS(2)|biliary_tract(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(16)|prostate(3)|skin(2)|urinary_tract(1)	37			Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			TAGCTGATGGCATCCTTCAGG	0.617													27	31					0	0	1	0	0	T	479971	C	T	479971	3	4	81	1	0	0	0	0	1	0	0	0	14768	710	25	2	909	2	SLC9A3	5	479971	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3204	479971	180435289	4230	7846											
TPPP	11076	broad.mit.edu	37	5	678081	678081	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:678081G>A	ENST00000360578.5	-	2	216	c.95C>T	c.(94-96)tCg>tTg	p.S32L		NM_007030.2	NP_008961.1	O94811	TPPP_HUMAN	tubulin polymerization promoting protein	32	Mediates interaction with LIMK1.				microtubule bundle formation|microtubule polymerization|positive regulation of protein polymerization	nucleus|perinuclear region of cytoplasm|soluble fraction	calcium ion binding|microtubule binding			kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5		Ovarian(839;0.0563)	Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863)	GBM - Glioblastoma multiforme(108;0.0191)		CGATTCCAGCGACAGCCTCTT	0.687													5	5					0	0	1	0	0	A	678081	G	A	678081	3	1	81	1	0	0	0	0	1	0	0	0	16474	1059	37	1	576	1	TPPP	5	678081	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	198110	678081	180237179	4231	7847											
TRIP13	9319	broad.mit.edu	37	5	901528	901528	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:901528C>T	ENST00000166345.3	+	5	873	c.517C>T	c.(517-519)Cgg>Tgg	p.R173W		NM_004237.3	NP_004228.1	Q15645	PCH2_HUMAN	thyroid hormone receptor interactor 13	173					double-strand break repair|reciprocal meiotic recombination|synaptonemal complex assembly|transcription from RNA polymerase II promoter		ATP binding|identical protein binding|nucleoside-triphosphatase activity|transcription cofactor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	18			Epithelial(17;0.00147)|OV - Ovarian serous cystadenocarcinoma(19;0.00271)|all cancers(22;0.00622)|Lung(60;0.165)			CACCTGGAACCGGGTGGTGCT	0.433													13	20					0	0	1	0	0	T	901528	C	T	901528	3	4	81	1	0	0	0	0	1	0	0	0	16618	643	23	1	535	1	TRIP13	5	901528	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	223447	901528	180013732	4232	7848											
SLC12A7	10723	broad.mit.edu	37	5	1053494	1053494	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:1053494G>A	ENST00000264930.5	-	23	3173	c.3130C>T	c.(3130-3132)Cct>Tct	p.P1044S		NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 7	1044					potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	TTTTTGGGAGGACCTGGCATG	0.602													11	24					0	0	1	0	0	A	1053494	G	A	1053494	3	1	81	1	0	0	0	0	1	0	0	0	14443	1174	41	2	129	2	SLC12A7	5	1053494	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	151966	1053494	179861766	4233	7849											
SLC12A7	10723	broad.mit.edu	37	5	1064315	1064315	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:1064315G>A	ENST00000264930.5	-	19	2533	c.2490C>T	c.(2488-2490)aaC>aaT	p.N830N		NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 7	830					potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	ACGAGTCGACGTTCTTGGCCA	0.682													7	15					0	0	1	0	0	A	1064315	G	A	1064315	2	1	81	1	0	0	0	0	0	0	0	1	14443	1136	40	1		1	SLC12A7	5	1064315	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	10821	1064315	179850945	4234	7850											
SLC12A7	10723	broad.mit.edu	37	5	1065545	1065545	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:1065545G>A	ENST00000264930.5	-	18	2333	c.2290C>T	c.(2290-2292)Ctg>Ttg	p.L764L		NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 7	764					potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	GAGACCACCAGCTGGCAGAAG	0.632													25	27					0	0	1	0	0	A	1065545	G	A	1065545	2	1	81	1	0	0	0	0	0	0	0	1	14443	962	34	2		2	SLC12A7	5	1065545	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1230	1065545	179849715	4235	7851											
SLC12A7	10723	broad.mit.edu	37	5	1083924	1083924	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:1083924G>T	ENST00000264930.5	-	8	1108	c.1065C>A	c.(1063-1065)taC>taA	p.Y355*		NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 7	355					potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	TCTGGATGAAGTACTCGTCAC	0.652													18	28					6.94344e-10	8.44171e-10	1	1	0	T	1083924	G	T	1083924	4	4	81	1	0	0	0	0	0	1	0	0	14443	1024	36	4	2254	4	SLC12A7	5	1083924	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	18379	1083924	179831336	4236	7852											
SLC12A7	10723	broad.mit.edu	37	5	1093734	1093734	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:1093734G>A	ENST00000264930.5	-	3	299	c.256C>T	c.(256-258)Ctc>Ttc	p.L86F		NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 7	86					potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	AGCTTGTTGAGCAGCGAGGAC	0.687													7	17					0	0	1	0	0	A	1093734	G	A	1093734	3	1	81	1	0	0	0	0	1	0	0	0	14443	971	34	2	3083	2	SLC12A7	5	1093734	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	9810	1093734	179821526	4237	7853											
SLC6A18	348932	broad.mit.edu	37	5	1235772	1235772	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:1235772G>T	ENST00000324642.3	+	4	739	c.616G>T	c.(616-618)Ggg>Tgg	p.G206W	SLC6A18_ENST00000296821.4_Missense_Mutation_p.G206W	NM_182632.2	NP_872438.2	Q96N87	S6A18_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 18	206					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1)	34	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			TGAGACTACAGGGAAGGTGAG	0.572													27	57					5.61819e-17	7.22971e-17	1	1	0	T	1235772	G	T	1235772	3	4	81	1	0	0	0	0	1	0	0	0	14736	1000	35	4	630	4	SLC6A18	5	1235772	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	142038	1235772	179679488	4238	7854											
SLC6A3	6531	broad.mit.edu	37	5	1403055	1403055	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:1403055C>T	ENST00000270349.9	-	13	1876	c.1749G>A	c.(1747-1749)ctG>ctA	p.L583L	SLC6A3_ENST00000453492.2_Silent_p.L583L	NM_001044.4	NP_001035.1	Q01959	SC6A3_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 3	583	Interaction with TGFB1I1.				cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body				breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)	AGGACCCAGGCAGGCTGCAGA	0.632													7	20					0	0	1	0	0	T	1403055	C	T	1403055	2	4	81	1	0	0	0	0	0	0	0	1	14740	697	25	2		2	SLC6A3	5	1403055	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	167283	1403055	179512205	4239	7855											
SLC6A3	6531	broad.mit.edu	37	5	1420736	1420736	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:1420736T>G	ENST00000270349.9	-	6	1002	c.875A>C	c.(874-876)gAc>gCc	p.D292A	SLC6A3_ENST00000453492.2_Missense_Mutation_p.D292A	NM_001044.4	NP_001035.1	Q01959	SC6A3_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 3	292					cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body				breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)	TCTGATGCCGTCTATGGCTCC	0.597													40	61					0	0	1	0	0	G	1420736	T	G	1420736	3	3	81	1	0	0	0	0	1	0	0	0	14740	1667	58	5	1027	5	SLC6A3	5	1420736	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	17681	1420736	179494524	4240	7856											
SLC6A3	6531	broad.mit.edu	37	5	1441573	1441573	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:1441573C>T	ENST00000270349.9	-	3	446	c.319G>A	c.(319-321)Gtc>Atc	p.V107I	SLC6A3_ENST00000453492.2_Missense_Mutation_p.V107I	NM_001044.4	NP_001035.1	Q01959	SC6A3_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 3	107					cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body				breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)	CCAGCAATGACCATGAAGAGC	0.587													3	37					0	0	1	0	0	T	1441573	C	T	1441573	3	4	81	1	0	0	0	0	1	0	0	0	14740	507	18	2	1595	2	SLC6A3	5	1441573	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	20837	1441573	179473687	4241	7857											
LPCAT1	79888	broad.mit.edu	37	5	1494887	1494887	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:1494887C>T	ENST00000283415.3	-	3	553	c.421G>A	c.(421-423)Gcc>Acc	p.A141T		NM_024830.3	NP_079106.3	Q8NF37	PCAT1_HUMAN	lysophosphatidylcholine acyltransferase 1	141					phospholipid biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	1-acylglycerophosphocholine O-acyltransferase activity|1-alkylglycerophosphocholine O-acetyltransferase activity|calcium ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(19;0.0274)|all cancers(22;0.0534)	GBM - Glioblastoma multiforme(108;0.156)		ACAGGGATGGCGTCGAAGTAG	0.652													5	31					0	0	1	0	0	T	1494887	C	T	1494887	3	4	81	1	0	0	0	0	1	0	0	0	8955	768	27	1	1231	1	LPCAT1	5	1494887	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	53314	1494887	179420373	4242	7858											
MRPL36	64979	broad.mit.edu	37	5	1798862	1798862	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:1798862G>A	ENST00000508987.1	-	2	324	c.188C>T	c.(187-189)gCg>gTg	p.A63V	MRPL36_ENST00000505059.2_Missense_Mutation_p.A63V|MRPL36_ENST00000505818.1_Missense_Mutation_p.A63V|MRPL36_ENST00000382647.7_Missense_Mutation_p.A63V			Q9P0J6	RM36_HUMAN	mitochondrial ribosomal protein L36	63					translation	mitochondrial large ribosomal subunit	structural constituent of ribosome			breast(1)|lung(2)	3				GBM - Glioblastoma multiforme(108;0.241)		GAACCCCAGCGCAGGCAGCAG	0.592													13	32					0	0	1	0	0	A	1798862	G	A	1798862	3	1	81	1	0	0	0	0	1	0	0	0	9848	1087	38	1	127	1	MRPL36	5	1798862	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	303975	1798862	179116398	4243	7859											
IRX1	79192	broad.mit.edu	37	5	3596444	3596444	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:3596444C>A	ENST00000302006.3	+	1	277	c.225C>A	c.(223-225)aaC>aaA	p.N75K	CTD-2012M11.3_ENST00000559410.1_RNA	NM_024337.3	NP_077313.3	P78414	IRX1_HUMAN	iroquois homeobox 1	75						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						GCGCGCCCAACTACAGCGCCT	0.746													4	7					0.150653	0.152522	1	1	0	A	3596444	C	A	3596444	3	1	81	1	0	0	0	0	1	0	0	0	7887	564	20	4	227	4	IRX1	5	3596444	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1797582	3596444	177318816	4244	7860											
ADAMTS16	170690	broad.mit.edu	37	5	5190119	5190119	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:5190119C>A	ENST00000274181.7	+	7	1221	c.1083C>A	c.(1081-1083)acC>acA	p.T361T	ADAMTS16_ENST00000511368.1_Silent_p.T361T	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	361	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						CAGACCACACCTTAAGTAGCT	0.483													8	68					0.000157383	0.000171784	1	1	0	A	5190119	C	A	5190119	2	1	81	1	0	0	0	0	0	0	0	1	260	668	24	4		4	ADAMTS16	5	5190119	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1593675	5190119	175725141	4245	7861											
ADAMTS16	170690	broad.mit.edu	37	5	5235133	5235133	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:5235133G>A	ENST00000274181.7	+	13	1995	c.1857G>A	c.(1855-1857)tcG>tcA	p.S619S		NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	619	TSP type-1 1.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						CCAGGCCATCGCATGGAGGGA	0.433													12	28					0	0	1	0	0	A	5235133	G	A	5235133	2	1	81	1	0	0	0	0	0	0	0	1	260	1074	38	1		1	ADAMTS16	5	5235133	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	45014	5235133	175680127	4246	7862											
ADAMTS16	170690	broad.mit.edu	37	5	5237190	5237190	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:5237190T>C	ENST00000274181.7	+	14	2270	c.2132T>C	c.(2131-2133)gTt>gCt	p.V711A	ADAMTS16_ENST00000513709.1_Intron	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	711	Cys-rich.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						AGCCGTAATGTTTGTATAGAT	0.393													34	58					0	0	1	0	0	C	5237190	T	C	5237190	3	2	81	1	0	0	0	0	1	0	0	0	260	1725	60	3	2186	3	ADAMTS16	5	5237190	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	2057	5237190	175678070	4247	7863											
KIAA0947	23379	broad.mit.edu	37	5	5462688	5462688	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:5462688G>A	ENST00000296564.7	+	13	3463	c.3241G>A	c.(3241-3243)Gag>Aag	p.E1081K		NM_015325.2	NP_056140.1	Q9Y2F5	K0947_HUMAN	KIAA0947	1081										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						AAAACATGGAGAGACACAGGA	0.473													47	80					0	0	1	0	0	A	5462688	G	A	5462688	3	1	81	1	0	0	0	0	1	0	0	0	8244	943	33	2	3291	2	KIAA0947	5	5462688	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	225498	5462688	175452572	4248	7864											
KIAA0947	23379	broad.mit.edu	37	5	5464275	5464275	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:5464275A>G	ENST00000296564.7	+	13	5050	c.4828A>G	c.(4828-4830)Aca>Gca	p.T1610A		NM_015325.2	NP_056140.1	Q9Y2F5	K0947_HUMAN	KIAA0947	1610										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						AAATGCTGATACATCCACTCC	0.448													5	54					0	0	1	0	0	G	5464275	A	G	5464275	3	3	81	1	0	0	0	0	1	0	0	0	8244	391	14	3	4878	3	KIAA0947	5	5464275	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	1587	5464275	175450985	4249	7865											
KIAA0947	23379	broad.mit.edu	37	5	5464590	5464590	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:5464590C>T	ENST00000296564.7	+	13	5365	c.5143C>T	c.(5143-5145)Cag>Tag	p.Q1715*		NM_015325.2	NP_056140.1	Q9Y2F5	K0947_HUMAN	KIAA0947	1715	Pro-rich.									breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						GTCTCCTCTGCAGTTCTGTGC	0.627													19	34					0	0	1	0	0	T	5464590	C	T	5464590	4	4	81	1	0	0	0	0	0	1	0	0	8244	711	25	2	5193	2	KIAA0947	5	5464590	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	315	5464590	175450670	4250	7866											
NSUN2	54888	broad.mit.edu	37	5	6632715	6632715	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:6632715T>C	ENST00000264670.6	-	2	562	c.251A>G	c.(250-252)aAa>aGa	p.K84R	NSUN2_ENST00000506139.1_Missense_Mutation_p.K84R|NSUN2_ENST00000539938.1_5'UTR	NM_017755.5	NP_060225.4	Q08J23	NSUN2_HUMAN	NOP2/Sun RNA methyltransferase family, member 2	84						cytoplasm|nucleolus	tRNA (cytosine-5-)-methyltransferase activity|tRNA binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	41						TCCCTACCTTTTGTAACCAGT	0.547													11	104					0	0	1	0	0	C	6632715	T	C	6632715	3	2	81	1	0	0	0	0	1	0	0	0	10726	1841	64	3	2124	3	NSUN2	5	6632715	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	1168125	6632715	174282545	4251	7867											
PAPD7	11044	broad.mit.edu	37	5	6746508	6746508	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:6746508C>T	ENST00000230859.6	+	7	806	c.677C>T	c.(676-678)tCg>tTg	p.S226L		NM_001171805.1|NM_001171806.1|NM_006999.4	NP_001165276.1|NP_001165277.1|NP_008930.1	Q5XG87	PAPD7_HUMAN	PAP associated domain containing 7	226	PAP-associated.				cell division|DNA replication|double-strand break repair|mitotic chromosome condensation|response to drug|sister chromatid cohesion	nucleus	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|SMC protein binding			cervix(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						TACAGACCGTCGATGCTGTGC	0.542													30	60					0	0	1	0	0	T	6746508	C	T	6746508	3	4	81	1	0	0	0	0	1	0	0	0	11473	893	31	1	699	1	PAPD7	5	6746508	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	113793	6746508	174168752	4252	7868											
ADCY2	108	broad.mit.edu	37	5	7706895	7706895	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:7706895G>A	ENST00000338316.4	+	8	1237	c.1148G>A	c.(1147-1149)cGc>cAc	p.R383H	ADCY2_ENST00000537121.1_Missense_Mutation_p.R203H	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	383					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						ATCAACATGCGCGTGGGCGTG	0.473													51	76					0	0	1	0	0	A	7706895	G	A	7706895	3	1	81	1	0	0	0	0	1	0	0	0	293	1087	38	1	1178	1	ADCY2	5	7706895	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	960387	7706895	173208365	4253	7869											
ADCY2	108	broad.mit.edu	37	5	7789844	7789844	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:7789844C>T	ENST00000338316.4	+	20	2648	c.2559C>T	c.(2557-2559)cgC>cgT	p.R853R	ADCY2_ENST00000537121.1_Silent_p.R673R	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	853					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						ACCTGAACCGCGTGCTGCTGG	0.532													6	43					0	0	1	0	0	T	7789844	C	T	7789844	2	4	81	1	0	0	0	0	0	0	0	1	293	755	27	1		1	ADCY2	5	7789844	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	82949	7789844	173125416	4254	7870											
ADCY2	108	broad.mit.edu	37	5	7816988	7816988	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:7816988C>T	ENST00000338316.4	+	23	2982	c.2893C>T	c.(2893-2895)Cgg>Tgg	p.R965W	ADCY2_ENST00000537121.1_Missense_Mutation_p.R785W	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	965					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						GGAGCCCGAGCGGCAGTACAT	0.507											OREG0016499	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	30					0	0	1	0	0	T	7816988	C	T	7816988	3	4	81	1	0	0	0	0	1	0	0	0	293	759	27	1	2983	1	ADCY2	5	7816988	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	27144	7816988	173098272	4255	7871											
ADCY2	108	broad.mit.edu	37	5	7817086	7817086	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:7817086G>A	ENST00000338316.4	+	23	3080	c.2991G>A	c.(2989-2991)ttG>ttA	p.L997L	ADCY2_ENST00000537121.1_Silent_p.L817L	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	997					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						ACTTCAAATTGCGAGTGGGTA	0.478											OREG0016499	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	27					0	0	1	0	0	A	7817086	G	A	7817086	2	1	81	1	0	0	0	0	0	0	0	1	293	1310	46	2		2	ADCY2	5	7817086	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	98	7817086	173098174	4256	7872											
MTRR	4552	broad.mit.edu	37	5	7878150	7878150	+	Silent	SNP	C	C	T	rs139333376	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:7878150C>T	ENST00000264668.2	+	5	606	c.576C>T	c.(574-576)ggC>ggT	p.G192G	MTRR_ENST00000341013.6_3'UTR|MTRR_ENST00000502509.1_3'UTR|MTRR_ENST00000440940.2_Silent_p.G165G	NM_002454.2|NM_024010.2	NP_002445.2|NP_076915.2	Q9UBK8	MTRR_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase reductase	192					methionine biosynthetic process	cytosol	[methionine synthase] reductase activity|flavin adenine dinucleotide binding|FMN binding|iron ion binding|NADP binding	p.G192G(1)		NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(14)|ovary(1)|prostate(3)|stomach(1)	31					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)	AGATAAGTGGCGCACTCCCGG	0.507													21	29					0	0	1	0	0	T	7878150	C	T	7878150	2	4	81	1	0	0	0	0	0	0	0	1	10009	755	27	1		1	MTRR	5	7878150	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	61064	7878150	173037110	4257	7873											
SEMA5A	9037	broad.mit.edu	37	5	9052040	9052040	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:9052040G>A	ENST00000382496.5	-	20	3455	c.2790C>T	c.(2788-2790)tgC>tgT	p.C930C		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	930	TSP type-1 7.				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						TGTTCCCGGAGCACTGGCTGC	0.552													16	17					0	0	1	0	0	A	9052040	G	A	9052040	2	1	81	1	0	0	0	0	0	0	0	1	14091	963	34	2		2	SEMA5A	5	9052040	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1173890	9052040	171863220	4258	7874											
TAS2R1	50834	broad.mit.edu	37	5	9629871	9629871	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:9629871C>T	ENST00000382492.2	-	1	592	c.274G>A	c.(274-276)Gaa>Aaa	p.E92K	CTD-2001E22.1_ENST00000504182.2_RNA	NM_019599.2	NP_062545.1	Q9NYW7	TA2R1_HUMAN	taste receptor, type 2, member 1	92					chemosensory behavior|sensory perception of taste	integral to membrane	taste receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(19)|ovary(3)|prostate(1)|skin(1)|stomach(1)	39						AGCCAAAGTTCCAATTCATTT	0.413													9	17					0	0	1	0	0	T	9629871	C	T	9629871	3	4	81	1	0	0	0	0	1	0	0	0	15622	864	30	2	629	2	TAS2R1	5	9629871	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	577831	9629871	171285389	4259	7875											
FAM173B	134145	broad.mit.edu	37	5	10227731	10227731	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:10227731C>T	ENST00000280330.8	-	6	638	c.32G>A	c.(31-33)cGt>cAt	p.R11H	FAM173B_ENST00000510047.1_Missense_Mutation_p.R158H|FAM173B_ENST00000511437.1_Missense_Mutation_p.R175H|FAM173B_ENST00000510052.1_5'UTR			Q6P4H8	F173B_HUMAN	family with sequence similarity 173, member B	175						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	16						CTCAAGTTCACGTTCAAGTTT	0.473													12	23					0	0	1	0	0	T	10227731	C	T	10227731	3	4	81	1	0	0	0	0	1	0	0	0	5524	536	19	1	181	1	FAM173B	5	10227731	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	597860	10227731	170687529	4260	7876											
CCT5	22948	broad.mit.edu	37	5	10254886	10254886	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:10254886G>A	ENST00000280326.4	+	3	687	c.267G>A	c.(265-267)aaG>aaA	p.K89K	CCT5_ENST00000506600.1_Intron|CCT5_ENST00000503026.1_Silent_p.K68K|CCT5_ENST00000515676.1_Silent_p.K51K|CCT5_ENST00000515390.1_Intron	NM_012073.3	NP_036205.1	P48643	TCPE_HUMAN	chaperonin containing TCP1, subunit 5 (epsilon)	89					'de novo' posttranslational protein folding|response to virus	microtubule organizing center|nucleolus	ATP binding|unfolded protein binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(2)	26						AGATTGCCAAGCTGATGGTGG	0.428													40	59					0	0	1	0	0	A	10254886	G	A	10254886	2	1	81	1	0	0	0	0	0	0	0	1	2978	962	34	2		2	CCT5	5	10254886	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	27155	10254886	170660374	4261	7877											
CCT5	22948	broad.mit.edu	37	5	10262654	10262654	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:10262654G>A	ENST00000280326.4	+	9	1661	c.1241G>A	c.(1240-1242)cGc>cAc	p.R414H	CCT5_ENST00000506600.1_Missense_Mutation_p.R321H|CCT5_ENST00000503026.1_Missense_Mutation_p.R393H|CCT5_ENST00000515676.1_Missense_Mutation_p.R376H|CCT5_ENST00000515390.1_Missense_Mutation_p.R359H	NM_012073.3	NP_036205.1	P48643	TCPE_HUMAN	chaperonin containing TCP1, subunit 5 (epsilon)	414					'de novo' posttranslational protein folding|response to virus	microtubule organizing center|nucleolus	ATP binding|unfolded protein binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(2)	26						AACCTCATCCGCGATAATCGT	0.493													27	45					0	0	1	0	0	A	10262654	G	A	10262654	3	1	81	1	0	0	0	0	1	0	0	0	2978	1087	38	1	1275	1	CCT5	5	10262654	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	7768	10262654	170652606	4262	7878											
MARCH6	10299	broad.mit.edu	37	5	10387155	10387155	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:10387155G>A	ENST00000274140.5	+	5	516	c.384G>A	c.(382-384)acG>acA	p.T128T	MARCH6_ENST00000449913.2_Silent_p.T80T|MARCH6_ENST00000503788.1_Silent_p.T23T	NM_005885.3	NP_005876.2	O60337	MARH6_HUMAN	membrane-associated ring finger (C3HC4) 6, E3 ubiquitin protein ligase	128					protein K48-linked ubiquitination	integral to endoplasmic reticulum membrane	ubiquitin conjugating enzyme binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(35)|ovary(1)|urinary_tract(3)	54						CACTACTGACGCTGCCATTAG	0.428													24	30					0	0	1	0	0	A	10387155	G	A	10387155	2	1	81	1	0	0	0	0	0	0	0	1	9355	1074	38	1		1	MARCH6	5	10387155	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	124501	10387155	170528105	4263	7879											
MARCH6	10299	broad.mit.edu	37	5	10411624	10411624	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:10411624G>A	ENST00000274140.5	+	19	2003	c.1871G>A	c.(1870-1872)cGc>cAc	p.R624H	MARCH6_ENST00000449913.2_Missense_Mutation_p.R576H|MARCH6_ENST00000510792.1_Missense_Mutation_p.R322H|MARCH6_ENST00000503788.1_Missense_Mutation_p.R519H	NM_005885.3	NP_005876.2	O60337	MARH6_HUMAN	membrane-associated ring finger (C3HC4) 6, E3 ubiquitin protein ligase	624					protein K48-linked ubiquitination	integral to endoplasmic reticulum membrane	ubiquitin conjugating enzyme binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(35)|ovary(1)|urinary_tract(3)	54						CAGCCTTACCGCCGACCTTTA	0.458													16	26					0	0	1	0	0	A	10411624	G	A	10411624	3	1	81	1	0	0	0	0	1	0	0	0	9355	1087	38	1	1945	1	MARCH6	5	10411624	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	24469	10411624	170503636	4264	7880											
CTNND2	1501	broad.mit.edu	37	5	11236855	11236855	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:11236855G>A	ENST00000304623.8	-	10	1898	c.1709C>T	c.(1708-1710)gCg>gTg	p.A570V	CTNND2_ENST00000503622.1_Missense_Mutation_p.A233V|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000359640.2_Missense_Mutation_p.A570V|CTNND2_ENST00000511377.1_Missense_Mutation_p.A479V|CTNND2_ENST00000458100.2_Missense_Mutation_p.A137V	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	570					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						GTAGGCTGCCGCGTTAGACTG	0.473													43	80					0	0	1	0	0	A	11236855	G	A	11236855	3	1	81	1	0	0	0	0	1	0	0	0	4044	1087	38	1	2020	1	CTNND2	5	11236855	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	825231	11236855	169678405	4265	7881											
CTNND2	1501	broad.mit.edu	37	5	11364911	11364911	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:11364911G>T	ENST00000304623.8	-	8	1458	c.1269C>A	c.(1267-1269)atC>atA	p.I423I	CTNND2_ENST00000503622.1_Silent_p.I86I|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000359640.2_Silent_p.I423I|CTNND2_ENST00000511377.1_Silent_p.I332I|CTNND2_ENST00000458100.2_5'UTR	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	423					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						GGTCTTCATAGATGGGATCTA	0.612													7	43					8.12818e-05	8.94031e-05	1	1	0	T	11364911	G	T	11364911	2	4	81	1	0	0	0	0	0	0	0	1	4044	932	33	4		4	CTNND2	5	11364911	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	128056	11364911	169550349	4266	7882											
DNAH5	1767	broad.mit.edu	37	5	13708294	13708294	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:13708294C>T	ENST00000265104.4	-	76	13380	c.13276G>A	c.(13276-13278)Gaa>Aaa	p.E4426K		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	4426					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CGCAGATTTTCGCTCATGATG	0.463									Kartagener syndrome				61	101					0	0	1	0	0	T	13708294	C	T	13708294	3	4	81	1	0	0	0	0	1	0	0	0	4632	893	31	1	614	1	DNAH5	5	13708294	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2343383	13708294	167206966	4267	7883											
DNAH5	1767	broad.mit.edu	37	5	13737379	13737379	+	Missense_Mutation	SNP	G	G	A	rs140948493	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:13737379G>A	ENST00000265104.4	-	66	11541	c.11437C>T	c.(11437-11439)Cgg>Tgg	p.R3813W		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3813					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TATTCCTCCCGGGCTGAGTTA	0.423									Kartagener syndrome				56	79					0	0	1	0	0	A	13737379	G	A	13737379	3	1	81	1	0	0	0	0	1	0	0	0	4632	1115	39	1	2493	1	DNAH5	5	13737379	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	29085	13737379	167177881	4268	7884											
DNAH5	1767	broad.mit.edu	37	5	13758996	13758996	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:13758996C>T	ENST00000265104.4	-	61	10482	c.10378G>A	c.(10378-10380)Gtg>Atg	p.V3460M		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3460	Stalk (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GCCTGCACCACGTCAAGTTCC	0.547									Kartagener syndrome				43	82					0	0	1	0	0	T	13758996	C	T	13758996	3	4	81	1	0	0	0	0	1	0	0	0	4632	536	19	1	3572	1	DNAH5	5	13758996	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	21617	13758996	167156264	4269	7885											
DNAH5	1767	broad.mit.edu	37	5	13759067	13759067	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:13759067C>T	ENST00000265104.4	-	61	10411	c.10307G>A	c.(10306-10308)cGc>cAc	p.R3436H		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3436	Stalk (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CAGGAGATGGCGATTCTCTTG	0.547									Kartagener syndrome				41	69					0	0	1	0	0	T	13759067	C	T	13759067	3	4	81	1	0	0	0	0	1	0	0	0	4632	768	27	1	3643	1	DNAH5	5	13759067	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	71	13759067	167156193	4270	7886											
DNAH5	1767	broad.mit.edu	37	5	13781003	13781004	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:13781003_13781004insT	ENST00000265104.4	-	53	8989_8990	c.8885_8886insA	c.(8884-8886)aagfs	p.K2962fs		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2962	AAA 4 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TCAGGCTCTGCTTTCCTGATCC	0.465									Kartagener syndrome				19	20	---	---	---	---						T	13781004	-	T	13781003	7	5	81	1	0	1	1	0	0	0	0	0	4632	796	28	0	5096	0	DNAH5	5	13781003	Frame_Shift_Ins	INS	-	TCGA-DU-6392-01A-11D-1705-08	21936	13781003	167134257	4271	7887											
DNAH5	1767	broad.mit.edu	37	5	13814920	13814920	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:13814920C>A	ENST00000265104.4	-	43	7128	c.7024G>T	c.(7024-7026)Gat>Tat	p.D2342Y		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2342	AAA 2 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CAGATGGCATCTACTGGACCA	0.398									Kartagener syndrome				18	37					6.49762e-13	8.15126e-13	1	1	0	A	13814920	C	A	13814920	3	1	81	1	0	0	0	0	1	0	0	0	4632	913	32	4	6998	4	DNAH5	5	13814920	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	33917	13814920	167100340	4272	7888											
DNAH5	1767	broad.mit.edu	37	5	13864621	13864621	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:13864621C>T	ENST00000265104.4	-	28	4585	c.4481G>A	c.(4480-4482)cGg>cAg	p.R1494Q	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1494	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TTCCCAGTGCCGCTCCATCAT	0.478									Kartagener syndrome				16	29					0	0	1	0	0	T	13864621	C	T	13864621	3	4	81	1	0	0	0	0	1	0	0	0	4632	652	23	1	9601	1	DNAH5	5	13864621	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	49701	13864621	167050639	4273	7889											
DNAH5	1767	broad.mit.edu	37	5	13891148	13891148	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:13891148C>T	ENST00000265104.4	-	17	2618	c.2514G>A	c.(2512-2514)acG>acA	p.T838T	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	838	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GACAAAGAGGCGTGCTGCTCA	0.408									Kartagener syndrome				39	103					0	0	1	0	0	T	13891148	C	T	13891148	2	4	81	1	0	0	0	0	0	0	0	1	4632	755	27	1		1	DNAH5	5	13891148	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	26527	13891148	167024112	4274	7890											
TRIO	7204	broad.mit.edu	37	5	14399169	14399169	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:14399169G>A	ENST00000344204.4	+	30	4628	c.4604G>A	c.(4603-4605)aGc>aAc	p.S1535N	TRIO_ENST00000509967.2_Missense_Mutation_p.S1486N|TRIO_ENST00000537187.1_Missense_Mutation_p.S1535N	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	1535	PH 1.				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					CTTTATAAAAGCAAATTGTTT	0.358													7	88					0	0	1	0	0	A	14399169	G	A	14399169	3	1	81	1	0	0	0	0	1	0	0	0	16613	971	34	2	4722	2	TRIO	5	14399169	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	508021	14399169	166516091	4275	7891											
TRIO	7204	broad.mit.edu	37	5	14462920	14462920	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:14462920G>T	ENST00000344204.4	+	36	5577	c.5553G>T	c.(5551-5553)ggG>ggT	p.G1851G	TRIO_ENST00000515710.1_3'UTR|TRIO_ENST00000537187.1_Silent_p.G1851G	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	1851					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					CCTCCTCGGGGATGCAGAGCT	0.612													7	98					5.18039e-06	5.88187e-06	1	1	0	T	14462920	G	T	14462920	2	4	81	1	0	0	0	0	0	0	0	1	16613	1161	41	5		5	TRIO	5	14462920	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	63751	14462920	166452340	4276	7892											
TRIO	7204	broad.mit.edu	37	5	14471491	14471491	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:14471491A>G	ENST00000344204.4	+	38	5852	c.5828A>G	c.(5827-5829)aAc>aGc	p.N1943S	TRIO_ENST00000537187.1_Missense_Mutation_p.N1943S	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	1943					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					CCTTCCTTCAACCCTTCGGAT	0.463													8	24					0	0	1	0	0	G	14471491	A	G	14471491	3	3	81	1	0	0	0	0	1	0	0	0	16613	43	2	3	5978	3	TRIO	5	14471491	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	8571	14471491	166443769	4277	7893											
ANKH	56172	broad.mit.edu	37	5	14713083	14713083	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:14713083C>A	ENST00000284268.6	-	11	1596		c.e11-1		ANKH_ENST00000535119.1_Splice_Site	NM_054027.4	NP_473368.1	Q9HCJ1	ANKH_HUMAN	ANKH inorganic pyrophosphate transport regulator						locomotory behavior|regulation of bone mineralization|skeletal system development	integral to plasma membrane|outer membrane	inorganic diphosphate transmembrane transporter activity|inorganic phosphate transmembrane transporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						ACCGTGCACCCTGCAGATGAG	0.577													7	6					1	1	1	1	0	A	14713083	C	A	14713083	5	1	81	1	0	0	0	0	0	0	1	0	623	695	24	4	221	4	ANKH	5	14713083	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	241592	14713083	166202177	4278	7894											
ZNF622	90441	broad.mit.edu	37	5	16465590	16465590	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:16465590C>A	ENST00000308683.2	-	1	311	c.185G>T	c.(184-186)aGc>aTc	p.S62I		NM_033414.2	NP_219482.1	Q969S3	ZN622_HUMAN	zinc finger protein 622	62						cytoplasm|nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1)	25						CGAGCCCTTGCTCTCCTCCTC	0.652													6	63					0.0293803	0.0300537	1	1	0	A	16465590	C	A	16465590	3	1	81	1	0	0	0	0	1	0	0	0	18103	797	28	4	1272	4	ZNF622	5	16465590	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1752507	16465590	164449670	4279	7895											
MYO10	4651	broad.mit.edu	37	5	16671615	16671615	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:16671615C>A	ENST00000513610.1	-	38	5800	c.5346G>T	c.(5344-5346)tgG>tgT	p.W1782C	MYO10_ENST00000274203.9_Missense_Mutation_p.W1139C|MYO10_ENST00000505695.1_Missense_Mutation_p.W1121C|MYO10_ENST00000515803.1_Missense_Mutation_p.W1121C|MYO10_ENST00000427430.2_Missense_Mutation_p.W1139C	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	1782	FERM.				axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						AGTAGAATTTCCATGGCAGGT	0.483													13	25					4.3838e-07	5.09097e-07	1	1	0	A	16671615	C	A	16671615	3	1	81	1	0	0	0	0	1	0	0	0	10110	856	30	5	846	5	MYO10	5	16671615	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	206025	16671615	164243645	4280	7896											
MYO10	4651	broad.mit.edu	37	5	16676221	16676221	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:16676221G>A	ENST00000513610.1	-	34	5039	c.4585C>T	c.(4585-4587)Cgg>Tgg	p.R1529W	MYO10_ENST00000274203.9_Missense_Mutation_p.R886W|MYO10_ENST00000505695.1_Missense_Mutation_p.R868W|MYO10_ENST00000515803.1_Missense_Mutation_p.R868W|MYO10_ENST00000427430.2_Missense_Mutation_p.R886W	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	1529					axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						ATCGGGTTCCGCTTGTAAATC	0.463													31	39					0	0	1	0	0	A	16676221	G	A	16676221	3	1	81	1	0	0	0	0	1	0	0	0	10110	1086	38	1	1623	1	MYO10	5	16676221	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	4606	16676221	164239039	4281	7897											
MYO10	4651	broad.mit.edu	37	5	16689991	16689991	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:16689991C>T	ENST00000513610.1	-	28	4292	c.3838G>A	c.(3838-3840)Gac>Aac	p.D1280N	MYO10_ENST00000274203.9_Missense_Mutation_p.D637N|MYO10_ENST00000505695.1_Missense_Mutation_p.D619N|MYO10_ENST00000515803.1_Missense_Mutation_p.D619N|MYO10_ENST00000427430.2_Missense_Mutation_p.D637N	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	1280	PH 1.				axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						ATAATGATGTCGATCCCATTC	0.463													26	32					0	0	1	0	0	T	16689991	C	T	16689991	3	4	81	1	0	0	0	0	1	0	0	0	10110	884	31	1	2394	1	MYO10	5	16689991	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	13770	16689991	164225269	4282	7898											
MYO10	4651	broad.mit.edu	37	5	16702672	16702672	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:16702672C>T	ENST00000513610.1	-	24	2990	c.2536G>A	c.(2536-2538)Gcc>Acc	p.A846T	MYO10_ENST00000274203.9_Missense_Mutation_p.A203T|MYO10_ENST00000505695.1_Missense_Mutation_p.A185T|MYO10_ENST00000515803.1_Missense_Mutation_p.A185T|MYO10_ENST00000427430.2_Missense_Mutation_p.A203T	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	846					axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						CGGAGCTCGGCTTCTCTTCGC	0.423													3	7					0	0	1	0	0	T	16702672	C	T	16702672	3	4	81	1	0	0	0	0	1	0	0	0	10110	797	28	2	3712	2	MYO10	5	16702672	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	12681	16702672	164212588	4283	7899											
MYO10	4651	broad.mit.edu	37	5	16763613	16763613	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:16763613C>A	ENST00000513610.1	-	14	1925	c.1471G>T	c.(1471-1473)Gaa>Taa	p.E491*		NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	491	Myosin head-like.				axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						TCCAGGCATTCTCCATTGTCT	0.373													6	65					0.27861	0.279815	1	1	0	A	16763613	C	A	16763613	4	1	81	1	0	0	0	0	0	1	0	0	10110	922	32	4	4817	4	MYO10	5	16763613	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	60941	16763613	164151647	4284	7900											
CDH18	1016	broad.mit.edu	37	5	19571703	19571703	+	Missense_Mutation	SNP	G	G	T	rs17856908		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:19571703G>T	ENST00000507958.1	-	10	2228	c.1238C>A	c.(1237-1239)aCt>aAt	p.T413N	CDH18_ENST00000511273.1_Missense_Mutation_p.T413N|CDH18_ENST00000506372.1_Missense_Mutation_p.T413N|CDH18_ENST00000502796.1_Missense_Mutation_p.T413N|CDH18_ENST00000274170.4_Missense_Mutation_p.T413N|CDH18_ENST00000382275.1_Missense_Mutation_p.T413N			Q13634	CAD18_HUMAN	cadherin 18, type 2	413	Cadherin 4.			T -> I (in Ref. 4; AAH31051).	adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					TAAGCTGTTAGTACTGTCAGG	0.378													33	43					5.43694e-19	7.07028e-19	1	1	0	T	19571703	G	T	19571703	3	4	81	1	0	0	0	0	1	0	0	0	3125	1029	36	4	1158	4	CDH18	5	19571703	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2808090	19571703	161343557	4285	7901											
CDH12	1010	broad.mit.edu	37	5	21751923	21751923	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:21751923C>A	ENST00000382254.1	-	15	3394	c.2308G>T	c.(2308-2310)Gac>Tac	p.D770Y	CDH12_ENST00000522262.1_Missense_Mutation_p.D730Y|RP11-804N13.1_ENST00000522350.1_RNA|CDH12_ENST00000521384.1_5'UTR|CDH12_ENST00000504376.2_Missense_Mutation_p.D770Y	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	770					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						GGTCCCCAGTCTGTCAGATAG	0.507										HNSCC(59;0.17)			41	49					1.48646e-12	1.8618e-12	1	1	0	A	21751923	C	A	21751923	3	1	81	1	0	0	0	0	1	0	0	0	3120	913	32	4	80	4	CDH12	5	21751923	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2180220	21751923	159163337	4286	7902											
CDH12	1010	broad.mit.edu	37	5	21854856	21854856	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:21854856C>T	ENST00000382254.1	-	7	1656	c.570G>A	c.(568-570)ccG>ccA	p.P190P	CDH12_ENST00000522262.1_Intron|CDH12_ENST00000521384.1_5'UTR|CDH12_ENST00000504376.2_Silent_p.P190P	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	190	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						TTCCATAGGTCGGGTCATCTG	0.403										HNSCC(59;0.17)			28	37					0	0	1	0	0	T	21854856	C	T	21854856	2	4	81	1	0	0	0	0	0	0	0	1	3120	871	31	1		1	CDH12	5	21854856	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	102933	21854856	159060404	4287	7903											
CDH12	1010	broad.mit.edu	37	5	21975343	21975343	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:21975343C>T	ENST00000382254.1	-	6	1469	c.383G>A	c.(382-384)cGt>cAt	p.R128H	CDH12_ENST00000522262.1_Missense_Mutation_p.R128H|CDH12_ENST00000504376.2_Missense_Mutation_p.R128H	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	128	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						AGCCTGAGCACGAAGAGTGTA	0.443										HNSCC(59;0.17)			32	40					0	0	1	0	0	T	21975343	C	T	21975343	3	4	81	1	0	0	0	0	1	0	0	0	3120	536	19	1	2041	1	CDH12	5	21975343	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	120487	21975343	158939917	4288	7904											
PRDM9	56979	broad.mit.edu	37	5	23523466	23523466	+	Splice_Site	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:23523466A>G	ENST00000296682.3	+	9	1131	c.949A>G	c.(949-951)Agg>Ggg	p.R317G		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	317	SET.				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						CAACTGGATGAGGTAAGGCCA	0.428										HNSCC(3;0.000094)			9	43					0	0	1	0	0	G	23523466	A	G	23523466	5	3	81	1	0	0	0	0	0	0	1	0	12515	318	11	3	979	3	PRDM9	5	23523466	Splice_Site	SNP	A	TCGA-DU-6392-01A-11D-1705-08	1548123	23523466	157391794	4289	7905											
PRDM9	56979	broad.mit.edu	37	5	23524486	23524486	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:23524486G>A	ENST00000296682.3	+	10	1176	c.994G>A	c.(994-996)Gcc>Acc	p.A332T		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	332	SET.				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						GAACCTGGTGGCCTTCCAGTA	0.527										HNSCC(3;0.000094)			19	36					0	0	1	0	0	A	23524486	G	A	23524486	3	1	81	1	0	0	0	0	1	0	0	0	12515	1203	42	2	1028	2	PRDM9	5	23524486	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1020	23524486	157390774	4290	7906											
CDH10	1008	broad.mit.edu	37	5	24488135	24488135	+	Missense_Mutation	SNP	C	C	A	rs146231810		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:24488135C>A	ENST00000264463.4	-	12	2511	c.2004G>T	c.(2002-2004)caG>caT	p.Q668H	CDH10_ENST00000502921.1_5'UTR	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	668					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		TATCAAAGGCCTGGGTGTCCT	0.458										HNSCC(23;0.051)			4	61					0.00909568	0.00944708	1	1	0	A	24488135	C	A	24488135	3	1	81	1	0	0	0	0	1	0	0	0	3118	680	24	4	366	4	CDH10	5	24488135	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	963649	24488135	156427125	4291	7907											
CDH10	1008	broad.mit.edu	37	5	24509872	24509872	+	Silent	SNP	G	G	A	rs144567766	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:24509872G>A	ENST00000264463.4	-	7	1566	c.1059C>T	c.(1057-1059)acC>acT	p.T353T		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	353	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		GATCTACATGGGTGTTTTCTG	0.368										HNSCC(23;0.051)			22	35					0	0	1	0	0	A	24509872	G	A	24509872	2	1	81	1	0	0	0	0	0	0	0	1	3118	1219	43	2		2	CDH10	5	24509872	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	21737	24509872	156405388	4292	7908											
C5orf22	55322	broad.mit.edu	37	5	31552974	31552974	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:31552974C>A	ENST00000355907.3	+	10	1619	c.457C>A	c.(457-459)Ctc>Atc	p.L153I	C5orf22_ENST00000504866.1_3'UTR|C5orf22_ENST00000325366.9_Missense_Mutation_p.L432I			Q49AR2	CE022_HUMAN	chromosome 5 open reading frame 22	432										kidney(3)|large_intestine(2)|lung(10)|ovary(2)|skin(1)	18						AAATCTAGACCTCCAAGTGTA	0.403													23	74					2.41591e-17	3.11509e-17	1	1	0	A	31552974	C	A	31552974	3	1	81	1	0	0	0	0	1	0	0	0	2300	681	24	4	1328	4	C5orf22	5	31552974	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	7043102	31552974	149362286	4293	7909											
PDZD2	23037	broad.mit.edu	37	5	32059379	32059379	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:32059379C>T	ENST00000438447.1	+	13	2623	c.2235C>T	c.(2233-2235)tgC>tgT	p.C745C	PDZD2_ENST00000282493.3_Silent_p.C745C			O15018	PDZD2_HUMAN	PDZ domain containing 2	745	PDZ 4.				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						GTGCCTGCTGCTTGGCTCTGG	0.443													6	44					0	0	1	0	0	T	32059379	C	T	32059379	2	4	81	1	0	0	0	0	0	0	0	1	11748	805	28	2		2	PDZD2	5	32059379	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	506405	32059379	148855881	4294	7910											
PDZD2	23037	broad.mit.edu	37	5	32088109	32088109	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:32088109T>G	ENST00000438447.1	+	20	4943	c.4555T>G	c.(4555-4557)Ttt>Gtt	p.F1519V	PDZD2_ENST00000282493.3_Missense_Mutation_p.F1519V			O15018	PDZD2_HUMAN	PDZ domain containing 2	1519					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						GAACAAAAACTTTCTGAGCAA	0.498													4	45					0	0	1	0	0	G	32088109	T	G	32088109	3	3	81	1	0	0	0	0	1	0	0	0	11748	1609	56	5	4629	5	PDZD2	5	32088109	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	28730	32088109	148827151	4295	7911											
PDZD2	23037	broad.mit.edu	37	5	32089262	32089262	+	Missense_Mutation	SNP	C	C	T	rs138400638		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:32089262C>T	ENST00000438447.1	+	20	6096	c.5708C>T	c.(5707-5709)gCg>gTg	p.A1903V	PDZD2_ENST00000282493.3_Missense_Mutation_p.A1903V			O15018	PDZD2_HUMAN	PDZ domain containing 2	1903					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						GCCCCTGCTGCGAATGCTGTG	0.552													20	46					0	0	1	0	0	T	32089262	C	T	32089262	3	4	81	1	0	0	0	0	1	0	0	0	11748	768	27	1	5782	1	PDZD2	5	32089262	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1153	32089262	148825998	4296	7912											
PDZD2	23037	broad.mit.edu	37	5	32091031	32091031	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:32091031C>A	ENST00000438447.1	+	20	7865	c.7477C>A	c.(7477-7479)Ctt>Att	p.L2493I	PDZD2_ENST00000282493.3_Missense_Mutation_p.L2493I			O15018	PDZD2_HUMAN	PDZ domain containing 2	2493		Cleavage; by caspases (By similarity).			cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						CATGCCTGACCTTGACAAGCT	0.612													15	56					0.00244969	0.00258825	1	1	0	A	32091031	C	A	32091031	3	1	81	1	0	0	0	0	1	0	0	0	11748	681	24	4	7551	4	PDZD2	5	32091031	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1769	32091031	148824229	4297	7913											
GOLPH3	64083	broad.mit.edu	37	5	32126330	32126330	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:32126330C>T	ENST00000265070.6	-	4	1200	c.885G>A	c.(883-885)gcG>gcA	p.A295A		NM_022130.3	NP_071413.1	Q9H4A6	GOLP3_HUMAN	golgi phosphoprotein 3 (coat-protein)	295					cell proliferation|positive regulation of TOR signaling cascade|regulation of mitochondrion organization	cytosol|endosome|Golgi cisterna membrane|mitochondrial intermembrane space|plasma membrane|trans-Golgi network	protein binding	p.A295A(1)		kidney(2)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	11						ACTTGGTGAACGCCGCCACCA	0.478													52	67					0	0	1	0	0	T	32126330	C	T	32126330	2	4	81	1	0	0	0	0	0	0	0	1	6607	523	19	1		1	GOLPH3	5	32126330	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	35299	32126330	148788930	4298	7914											
MTMR12	54545	broad.mit.edu	37	5	32268851	32268851	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:32268851C>T	ENST00000382142.3	-	6	709	c.539G>A	c.(538-540)cGa>cAa	p.R180Q	MTMR12_ENST00000264934.5_Missense_Mutation_p.R180Q|MTMR12_ENST00000280285.5_Missense_Mutation_p.R180Q	NM_001040446.1	NP_001035536.1	Q9C0I1	MTMRC_HUMAN	myotubularin related protein 12	180						cytoplasm	phosphatase activity	p.R180Q(1)		breast(3)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						CAGAAATAATCGTTTAAGCAG	0.378													31	61					0	0	1	0	0	T	32268851	C	T	32268851	3	4	81	1	0	0	0	0	1	0	0	0	9989	884	31	1	1748	1	MTMR12	5	32268851	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	142521	32268851	148646409	4299	7915											
ZFR	51663	broad.mit.edu	37	5	32364315	32364315	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:32364315G>T	ENST00000265069.8	-	18	3004	c.2902C>A	c.(2902-2904)Ctg>Atg	p.L968M	ZFR_ENST00000510369.1_5'UTR	NM_016107.3	NP_057191.2	Q96KR1	ZFR_HUMAN	zinc finger RNA binding protein	968	DZF.				multicellular organismal development	chromosome|cytoplasm|nucleus	DNA binding|RNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2)	32				STAD - Stomach adenocarcinoma(35;0.19)		ACTCTTCTCAGTGCATCCCCA	0.358													12	119					2.23348e-06	2.55658e-06	1	1	0	T	32364315	G	T	32364315	3	4	81	1	0	0	0	0	1	0	0	0	17717	1020	36	4	334	4	ZFR	5	32364315	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	95464	32364315	148550945	4300	7916											
NPR3	4883	broad.mit.edu	37	5	32738972	32738972	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:32738972G>T	ENST00000265074.8	+	3	1238	c.895G>T	c.(895-897)Gat>Tat	p.D299Y	NPR3_ENST00000434067.2_Missense_Mutation_p.D83Y|NPR3_ENST00000415167.2_Missense_Mutation_p.D299Y|NPR3_ENST00000415685.2_Missense_Mutation_p.D83Y	NM_000908.3|NM_001204375.1	NP_000899.1|NP_001191304.1	P17342	ANPRC_HUMAN	natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C)	299					osteoclast proliferation|positive regulation of urine volume|regulation of blood pressure|regulation of osteoblast proliferation|skeletal system development	integral to membrane	hormone binding|natriuretic peptide receptor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24					Nesiritide(DB04899)	TTCCATAGGAGATGGCTCATG	0.458													8	59					0.00448238	0.00470627	1	1	0	T	32738972	G	T	32738972	3	4	81	1	0	0	0	0	1	0	0	0	10644	942	33	4	905	4	NPR3	5	32738972	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	374657	32738972	148176288	4301	7917											
ADAMTS12	81792	broad.mit.edu	37	5	33549430	33549430	+	Missense_Mutation	SNP	C	C	T	rs147732973		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:33549430C>T	ENST00000504830.1	-	21	4519	c.4184G>A	c.(4183-4185)cGg>cAg	p.R1395Q	ADAMTS12_ENST00000352040.3_Missense_Mutation_p.R1310Q	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1395	TSP type-1 6.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						CCGGTGGTCCCGGCTGTCCAC	0.572										HNSCC(64;0.19)			6	75					0	0	1	0	0	T	33549430	C	T	33549430	3	4	81	1	0	0	0	0	1	0	0	0	256	652	23	1	616	1	ADAMTS12	5	33549430	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	810458	33549430	147365830	4302	7918											
ADAMTS12	81792	broad.mit.edu	37	5	33576661	33576661	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:33576661C>A	ENST00000504830.1	-	19	3805	c.3470G>T	c.(3469-3471)aGt>aTt	p.S1157I	ADAMTS12_ENST00000352040.3_Missense_Mutation_p.S1072I	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1157	Spacer 2.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						CCCTGAGCCACTGTGAATCTC	0.468										HNSCC(64;0.19)			11	100					1.5842e-08	1.88841e-08	1	1	0	A	33576661	C	A	33576661	3	1	81	1	0	0	0	0	1	0	0	0	256	565	20	4	1338	4	ADAMTS12	5	33576661	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	27231	33576661	147338599	4303	7919											
ADAMTS12	81792	broad.mit.edu	37	5	33577233	33577233	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:33577233A>G	ENST00000504830.1	-	19	3233	c.2898T>C	c.(2896-2898)atT>atC	p.I966I	ADAMTS12_ENST00000352040.3_Silent_p.I881I|ADAMTS12_ENST00000504582.1_5'UTR	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	966	TSP type-1 4.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						TGACACTGCGAATCCGCACTC	0.498										HNSCC(64;0.19)			31	50					0	0	1	0	0	G	33577233	A	G	33577233	2	3	81	1	0	0	0	0	0	0	0	1	256	242	9	3		3	ADAMTS12	5	33577233	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	572	33577233	147338027	4304	7920											
RXFP3	51289	broad.mit.edu	37	5	33937928	33937928	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:33937928G>T	ENST00000330120.3	+	1	1438	c.1083G>T	c.(1081-1083)caG>caT	p.Q361H		NM_016568.3	NP_057652.1	Q9NSD7	RL3R1_HUMAN	relaxin/insulin-like family peptide receptor 3	361						integral to plasma membrane	N-formyl peptide receptor activity			endometrium(4)|large_intestine(9)|lung(24)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)	42						CCTTCAGCCAGGAGTATTTCC	0.602													6	54					0.00116845	0.00124301	1	1	0	T	33937928	G	T	33937928	3	4	81	1	0	0	0	0	1	0	0	0	13813	991	35	4	1085	4	RXFP3	5	33937928	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	360695	33937928	146977332	4305	7921											
RXFP3	51289	broad.mit.edu	37	5	33937967	33937967	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:33937967C>T	ENST00000330120.3	+	1	1477	c.1122C>T	c.(1120-1122)agC>agT	p.S374S		NM_016568.3	NP_057652.1	Q9NSD7	RL3R1_HUMAN	relaxin/insulin-like family peptide receptor 3	374						integral to plasma membrane	N-formyl peptide receptor activity			endometrium(4)|large_intestine(9)|lung(24)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)	42						TCCCTGTGAGCGTGTGCCTAG	0.622													4	60					0	0	1	0	0	T	33937967	C	T	33937967	2	4	81	1	0	0	0	0	0	0	0	1	13813	767	27	1		1	RXFP3	5	33937967	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	39	33937967	146977293	4306	7922											
SLC45A2	51151	broad.mit.edu	37	5	33984573	33984573	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:33984573C>T	ENST00000382102.3	-	1	173	c.116G>A	c.(115-117)aGc>aAc	p.S39N	SLC45A2_ENST00000509381.1_Missense_Mutation_p.S39N|SLC45A2_ENST00000296589.4_Missense_Mutation_p.S39N|SLC45A2_ENST00000342059.3_Missense_Mutation_p.S39N|SLC45A2_ENST00000345083.5_Missense_Mutation_p.S39N	NM_001012509.2	NP_001012527	Q9UMX9	S45A2_HUMAN	solute carrier family 45, member 2	39					melanin biosynthetic process|response to stimulus|transmembrane transport|visual perception	integral to membrane|melanosome membrane				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(25)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48						CATGGCCATGCTGTGCATGAT	0.577													7	17					0	0	1	0	0	T	33984573	C	T	33984573	3	4	81	1	0	0	0	0	1	0	0	0	14696	797	28	2	1519	2	SLC45A2	5	33984573	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	46606	33984573	146930687	4307	7923											
SLC45A2	51151	broad.mit.edu	37	5	33984677	33984677	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:33984677G>A	ENST00000382102.3	-	1	69	c.12C>T	c.(10-12)aaC>aaT	p.N4N	SLC45A2_ENST00000509381.1_Silent_p.N4N|SLC45A2_ENST00000296589.4_Silent_p.N4N|SLC45A2_ENST00000342059.3_Silent_p.N4N|SLC45A2_ENST00000345083.5_Silent_p.N4N	NM_001012509.2	NP_001012527	Q9UMX9	S45A2_HUMAN	solute carrier family 45, member 2	4					melanin biosynthetic process|response to stimulus|transmembrane transport|visual perception	integral to membrane|melanosome membrane				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(25)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48						CCTGCCCACTGTTGCTACCCA	0.572													20	29					0	0	1	0	0	A	33984677	G	A	33984677	2	1	81	1	0	0	0	0	0	0	0	1	14696	1368	48	2		2	SLC45A2	5	33984677	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	104	33984677	146930583	4308	7924											
RAI14	26064	broad.mit.edu	37	5	34803818	34803818	+	Splice_Site	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:34803818A>G	ENST00000265109.3	+	5	545	c.258A>G	c.(256-258)ggA>ggG	p.G86G	RAI14_ENST00000428746.2_Splice_Site_p.G86G|RAI14_ENST00000397449.1_Splice_Site_p.G79G|RAI14_ENST00000515799.1_Splice_Site_p.G89G|RAI14_ENST00000507276.1_3'UTR|RAI14_ENST00000506376.1_Splice_Site_p.G78G|RAI14_ENST00000503673.1_Splice_Site_p.G86G|RAI14_ENST00000512629.1_Splice_Site_p.G86G	NM_001145522.1|NM_015577.2	NP_001138994.1|NP_056392.2	Q9P0K7	RAI14_HUMAN	retinoic acid induced 14	86						cell cortex|cytoskeleton	protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(31;0.000191)					tCCATTTAGGACACAGCGCCT	0.358													6	7					0	0	1	0	0	G	34803818	A	G	34803818	5	3	81	1	0	0	0	0	0	0	1	0	13060	289	10	3	337	3	RAI14	5	34803818	Splice_Site	SNP	A	TCGA-DU-6392-01A-11D-1705-08	819141	34803818	146111442	4309	7925											
RAI14	26064	broad.mit.edu	37	5	34808726	34808726	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:34808726C>T	ENST00000265109.3	+	7	704	c.417C>T	c.(415-417)tgC>tgT	p.C139C	RAI14_ENST00000428746.2_Silent_p.C139C|RAI14_ENST00000397449.1_Silent_p.C132C|RAI14_ENST00000515799.1_Silent_p.C142C|RAI14_ENST00000507276.1_3'UTR|RAI14_ENST00000506376.1_Silent_p.C131C|RAI14_ENST00000503673.1_Silent_p.C139C|RAI14_ENST00000512629.1_Silent_p.C139C	NM_001145522.1|NM_015577.2	NP_001138994.1|NP_056392.2	Q9P0K7	RAI14_HUMAN	retinoic acid induced 14	139						cell cortex|cytoskeleton	protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(31;0.000191)					AGATTCTCTGCGAACACAAGA	0.478													14	22					0	0	1	0	0	T	34808726	C	T	34808726	2	4	81	1	0	0	0	0	0	0	0	1	13060	776	27	1		1	RAI14	5	34808726	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	4908	34808726	146106534	4310	7926											
RAD1	5810	broad.mit.edu	37	5	34911753	34911753	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:34911753G>T	ENST00000382038.2	-	4	1891	c.472C>A	c.(472-474)Ctg>Atg	p.L158M	RAD1_ENST00000341754.4_Missense_Mutation_p.L158M	NM_002853.3	NP_002844.1	O60671	RAD1_HUMAN	RAD1 homolog (S. pombe)	158					DNA damage checkpoint|DNA repair|DNA replication|meiotic prophase I	nucleoplasm	3'-5' exonuclease activity|damaged DNA binding|exodeoxyribonuclease III activity|protein binding			endometrium(3)|large_intestine(1)|lung(5)|urinary_tract(1)	10	all_lung(31;0.000107)	Lung NSC(810;5.19e-05)|Ovarian(839;0.0448)|Breast(839;0.198)	COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)			TCTGACTGCAGAATAATTTTA	0.423								Other conserved DNA damage response genes					42	61					8.17448e-37	1.09582e-36	1	1	0	T	34911753	G	T	34911753	3	4	81	1	0	0	0	0	1	0	0	0	13030	933	33	4	388	4	RAD1	5	34911753	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	103027	34911753	146003507	4311	7927											
RAD1	5810	broad.mit.edu	37	5	34911885	34911885	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:34911885C>A	ENST00000382038.2	-	4	1759	c.340G>T	c.(340-342)Ggt>Tgt	p.G114C	RAD1_ENST00000341754.4_Missense_Mutation_p.G114C	NM_002853.3	NP_002844.1	O60671	RAD1_HUMAN	RAD1 homolog (S. pombe)	114			G -> D (in dbSNP:rs2308957).		DNA damage checkpoint|DNA repair|DNA replication|meiotic prophase I	nucleoplasm	3'-5' exonuclease activity|damaged DNA binding|exodeoxyribonuclease III activity|protein binding			endometrium(3)|large_intestine(1)|lung(5)|urinary_tract(1)	10	all_lung(31;0.000107)	Lung NSC(810;5.19e-05)|Ovarian(839;0.0448)|Breast(839;0.198)	COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)			TAACCATAACCTTGGTAACAC	0.443								Other conserved DNA damage response genes					13	98					4.3838e-07	5.09097e-07	1	1	0	A	34911885	C	A	34911885	3	1	81	1	0	0	0	0	1	0	0	0	13030	681	24	4	520	4	RAD1	5	34911885	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	132	34911885	146003375	4312	7928											
DNAJC21	134218	broad.mit.edu	37	5	34954715	34954715	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:34954715T>C	ENST00000382021.2	+	13	1854	c.1627T>C	c.(1627-1629)Ttt>Ctt	p.F543L	DNAJC21_ENST00000303525.7_Missense_Mutation_p.F511L|DNAJC21_ENST00000342382.4_Missense_Mutation_p.F498L	NM_194283.3	NP_919259.3	Q5F1R6	DJC21_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 21	498					protein folding	ribosome	heat shock protein binding|nucleic acid binding|unfolded protein binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(2)|upper_aerodigestive_tract(1)	21	all_lung(31;7.08e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)			GAATAAACTTTTTGACCATCT	0.388													6	104					0	0	1	0	0	C	34954715	T	C	34954715	3	2	81	1	0	0	0	0	1	0	0	0	4667	1841	64	3	1677	3	DNAJC21	5	34954715	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	42830	34954715	145960545	4313	7929											
AGXT2	64902	broad.mit.edu	37	5	35040694	35040694	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:35040694G>A	ENST00000231420.6	-	2	363	c.163C>T	c.(163-165)Cct>Tct	p.P55S		NM_031900.3	NP_114106.1	Q9BYV1	AGT2_HUMAN	alanine--glyoxylate aminotransferase 2	55					glyoxylate metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	mitochondrial matrix	(R)-3-amino-2-methylpropionate-pyruvate transaminase activity|alanine-glyoxylate transaminase activity|pyridoxal phosphate binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(18)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	41	all_lung(31;4.52e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)	GBM - Glioblastoma multiforme(108;0.181)	Glycine(DB00145)|L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)	TATCTTTCAGGCATGAAGTCA	0.423													37	70					0	0	1	0	0	A	35040694	G	A	35040694	3	1	81	1	0	0	0	0	1	0	0	0	402	1203	42	2	1433	2	AGXT2	5	35040694	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	85979	35040694	145874566	4314	7930											
PRLR	5618	broad.mit.edu	37	5	35070320	35070320	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:35070320A>T	ENST00000382002.5	-	7	1017	c.591T>A	c.(589-591)caT>caA	p.H197Q	PRLR_ENST00000231423.3_Missense_Mutation_p.H197Q|PRLR_ENST00000342362.5_Missense_Mutation_p.H96Q|PRLR_ENST00000511486.1_Missense_Mutation_p.H96Q|PRLR_ENST00000348262.3_Missense_Mutation_p.H197Q|PRLR_ENST00000513753.1_Missense_Mutation_p.H197Q|PRLR_ENST00000542609.1_Missense_Mutation_p.H197Q|PRLR_ENST00000397391.3_Missense_Mutation_p.H126Q|PRLR_ENST00000509934.1_5'UTR|PRLR_ENST00000310101.5_Missense_Mutation_p.H197Q	NM_000949.5	NP_000940.1	P16471	PRLR_HUMAN	prolactin receptor	197	Fibronectin type-III 2.				activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process|T cell activation	cell surface|extracellular region|integral to membrane	metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48	all_lung(31;3.83e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	TCTGTCCTGGATGTAGGCTGA	0.438													21	39					0	0	1	0	0	T	35070320	A	T	35070320	3	4	81	1	0	0	0	0	1	0	0	0	12583	330	12	4	1293	4	PRLR	5	35070320	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	29626	35070320	145844940	4315	7931											
SPEF2	79925	broad.mit.edu	37	5	35641674	35641674	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:35641674C>T	ENST00000440995.2	+	3	303	c.303C>T	c.(301-303)taC>taT	p.Y101Y	SPEF2_ENST00000509059.1_Silent_p.Y101Y|SPEF2_ENST00000356031.3_Silent_p.Y101Y|SPEF2_ENST00000282469.6_Silent_p.Y101Y			Q9C093	SPEF2_HUMAN	sperm flagellar 2	101	CH.				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			ATCAATTGTACATTGCTCTTC	0.413													33	42					0	0	1	0	0	T	35641674	C	T	35641674	2	4	81	1	0	0	0	0	0	0	0	1	15091	489	17	2		2	SPEF2	5	35641674	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	571354	35641674	145273586	4316	7932											
SPEF2	79925	broad.mit.edu	37	5	35654816	35654816	+	Silent	SNP	C	C	T	rs139014576		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:35654816C>T	ENST00000440995.2	+	7	966	c.966C>T	c.(964-966)caC>caT	p.H322H	SPEF2_ENST00000509059.1_Silent_p.H322H|SPEF2_ENST00000356031.3_Silent_p.H322H|SPEF2_ENST00000282469.6_Silent_p.H322H			Q9C093	SPEF2_HUMAN	sperm flagellar 2	322					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TAATAGCCCACGAAGCACAAG	0.363													19	32					0	0	1	0	0	T	35654816	C	T	35654816	2	4	81	1	0	0	0	0	0	0	0	1	15091	535	19	1		1	SPEF2	5	35654816	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	13142	35654816	145260444	4317	7933											
SPEF2	79925	broad.mit.edu	37	5	35667259	35667259	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:35667259C>A	ENST00000440995.2	+	9	1253	c.1253C>A	c.(1252-1254)gCt>gAt	p.A418D	SPEF2_ENST00000509059.1_Missense_Mutation_p.A418D|SPEF2_ENST00000356031.3_Missense_Mutation_p.A418D|SPEF2_ENST00000282469.6_Missense_Mutation_p.A418D			Q9C093	SPEF2_HUMAN	sperm flagellar 2	418					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GTGGAAAGAGCTCAAGCTCGT	0.348													19	25					5.03518e-11	6.21509e-11	1	1	0	A	35667259	C	A	35667259	3	1	81	1	0	0	0	0	1	0	0	0	15091	797	28	4	1287	4	SPEF2	5	35667259	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	12443	35667259	145248001	4318	7934											
SPEF2	79925	broad.mit.edu	37	5	35691272	35691272	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:35691272C>A	ENST00000440995.2	+	11	1658	c.1658C>A	c.(1657-1659)cCt>cAt	p.P553H	SPEF2_ENST00000509059.1_Missense_Mutation_p.P553H|CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000356031.3_Missense_Mutation_p.P553H			Q9C093	SPEF2_HUMAN	sperm flagellar 2	553					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TCAACAACACCTGAATTACCT	0.388													9	117					0.00448238	0.00470627	1	1	0	A	35691272	C	A	35691272	3	1	81	1	0	0	0	0	1	0	0	0	15091	681	24	4	1721	4	SPEF2	5	35691272	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	24013	35691272	145223988	4319	7935											
SPEF2	79925	broad.mit.edu	37	5	35792449	35792449	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:35792449A>G	ENST00000440995.2	+	31	4440	c.4440A>G	c.(4438-4440)atA>atG	p.I1480M	CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000356031.3_Missense_Mutation_p.I1485M|SPEF2_ENST00000303129.4_Missense_Mutation_p.I282M			Q9C093	SPEF2_HUMAN	sperm flagellar 2	1485					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TAGGCATAATAGGAAATAAAG	0.343													8	66					0	0	1	0	0	G	35792449	A	G	35792449	3	3	81	1	0	0	0	0	1	0	0	0	15091	410	15	3	4598	3	SPEF2	5	35792449	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	101177	35792449	145122811	4320	7936											
IL7R	3575	broad.mit.edu	37	5	35873728	35873728	+	Silent	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:35873728T>A	ENST00000303115.3	+	5	813	c.684T>A	c.(682-684)acT>acA	p.T228T	IL7R_ENST00000506850.1_Silent_p.T228T|IL7R_ENST00000343305.4_Silent_p.T228T	NM_002185.3	NP_002176.2	P16871	IL7RA_HUMAN	interleukin 7 receptor	228					immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			ACTTCAGAACTCCAGAGATCA	0.423			"Mis, O"		"ALL, ETP ALL"		Severe combined immune deficiency						10	88					0	0	1	0	0	A	35873728	T	A	35873728	2	1	81	1	0	0	0	0	0	0	0	1	7749	1538	54	5		5	IL7R	5	35873728	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	81279	35873728	145041532	4321	7937											
CAPSL	133690	broad.mit.edu	37	5	35921134	35921134	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:35921134C>T	ENST00000397367.2	-	2	215	c.89G>A	c.(88-90)cGa>cAa	p.R30Q	CAPSL_ENST00000514524.1_Missense_Mutation_p.R30Q|CAPSL_ENST00000397366.1_Missense_Mutation_p.R30Q	NM_144647.3	NP_653248.3	Q8WWF8	CAPSL_HUMAN	calcyphosine-like	30						cytoplasm	calcium ion binding			central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(10)|skin(1)|urinary_tract(1)	19	all_lung(31;0.000268)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.167)|Colorectal(62;0.202)			GCACTGCAGTCGGAGTCTTTC	0.607													16	39					0	0	1	0	0	T	35921134	C	T	35921134	3	4	81	1	0	0	0	0	1	0	0	0	2657	884	31	1	553	1	CAPSL	5	35921134	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	47406	35921134	144994126	4322	7938											
CAPSL	133690	broad.mit.edu	37	5	35921206	35921206	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:35921206C>T	ENST00000397367.2	-	2	143	c.17G>A	c.(16-18)cGc>cAc	p.R6H	CAPSL_ENST00000514524.1_Missense_Mutation_p.R6H|CAPSL_ENST00000397366.1_Missense_Mutation_p.R6H	NM_144647.3	NP_653248.3	Q8WWF8	CAPSL_HUMAN	calcyphosine-like	6						cytoplasm	calcium ion binding			central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(10)|skin(1)|urinary_tract(1)	19	all_lung(31;0.000268)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.167)|Colorectal(62;0.202)			TCGGTCATGGCGCGCTGTCCC	0.612													10	18					0	0	1	0	0	T	35921206	C	T	35921206	3	4	81	1	0	0	0	0	1	0	0	0	2657	768	27	1	625	1	CAPSL	5	35921206	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	72	35921206	144994054	4323	7939											
UGT3A1	133688	broad.mit.edu	37	5	35954517	35954517	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:35954517C>A	ENST00000274278.3	-	7	1716	c.1359G>T	c.(1357-1359)caG>caT	p.Q453H		NM_152404.3	NP_689617.3	Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1	453						integral to membrane	glucuronosyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CCACCAGCCGCTGTGCGGGGC	0.612													10	20					0.000219431	0.000239308	1	1	0	A	35954517	C	A	35954517	3	1	81	1	0	0	0	0	1	0	0	0	17023	796	28	4	216	4	UGT3A1	5	35954517	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	33311	35954517	144960743	4324	7940											
UGT3A1	133688	broad.mit.edu	37	5	35954554	35954554	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:35954554C>A	ENST00000274278.3	-	7	1679	c.1322G>T	c.(1321-1323)aGt>aTt	p.S441I		NM_152404.3	NP_689617.3	Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1	441						integral to membrane	glucuronosyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CAGGATGACACTGGCTGCCAC	0.587													6	29					0.0293803	0.0300537	1	1	0	A	35954554	C	A	35954554	3	1	81	1	0	0	0	0	1	0	0	0	17023	565	20	4	253	4	UGT3A1	5	35954554	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	37	35954554	144960706	4325	7941											
UGT3A1	133688	broad.mit.edu	37	5	35965820	35965820	+	Missense_Mutation	SNP	C	C	T	rs141076093		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:35965820C>T	ENST00000274278.3	-	4	868	c.511G>A	c.(511-513)Ggc>Agc	p.G171S	UGT3A1_ENST00000503189.1_Missense_Mutation_p.G171S|UGT3A1_ENST00000507113.1_Missense_Mutation_p.G137S|UGT3A1_ENST00000333811.4_Missense_Mutation_p.G117S|UGT3A1_ENST00000513233.1_Intron	NM_152404.3	NP_689617.3	Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1	171						integral to membrane	glucuronosyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TCCAAAGAGCCGAATGTGGTG	0.443													25	31					0	0	1	0	0	T	35965820	C	T	35965820	3	4	81	1	0	0	0	0	1	0	0	0	17023	652	23	1	1158	1	UGT3A1	5	35965820	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	11266	35965820	144949440	4326	7942											
LMBRD2	92255	broad.mit.edu	37	5	36136434	36136434	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:36136434C>T	ENST00000296603.4	-	6	1186	c.724G>A	c.(724-726)Gag>Aag	p.E242K		NM_001007527.1	NP_001007528.1	Q68DH5	LMBD2_HUMAN	LMBR1 domain containing 2	242						integral to membrane				breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(31;0.000146)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TCCAAATTCTCTTCTGCATCT	0.373													65	128					0	0	1	0	0	T	36136434	C	T	36136434	3	4	81	1	0	0	0	0	1	0	0	0	8884	922	32	2	1415	2	LMBRD2	5	36136434	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	170614	36136434	144778826	4327	7943											
LMBRD2	92255	broad.mit.edu	37	5	36137525	36137525	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:36137525C>T	ENST00000296603.4	-	5	849	c.387G>A	c.(385-387)atG>atA	p.M129I		NM_001007527.1	NP_001007528.1	Q68DH5	LMBD2_HUMAN	LMBR1 domain containing 2	129						integral to membrane				breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(31;0.000146)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CATATGACTGCATAAAAGGTA	0.328													16	37					0	0	1	0	0	T	36137525	C	T	36137525	3	4	81	1	0	0	0	0	1	0	0	0	8884	710	25	2	1756	2	LMBRD2	5	36137525	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1091	36137525	144777735	4328	7944											
SKP2	6502	broad.mit.edu	37	5	36168426	36168426	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:36168426T>C	ENST00000274255.6	+	5	744	c.548T>C	c.(547-549)gTa>gCa	p.V183A	SKP2_ENST00000546211.1_Intron|SKP2_ENST00000508514.1_Intron|SKP2_ENST00000274254.5_Missense_Mutation_p.V183A	NM_005983.3	NP_005974.2	Q13309	SKP2_HUMAN	S-phase kinase-associated protein 2, E3 ubiquitin protein ligase	183					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|G1/S transition of mitotic cell cycle|S phase of mitotic cell cycle	nucleoplasm|SCF ubiquitin ligase complex	protein binding			breast(1)|central_nervous_system(2)|ovary(1)	4	all_lung(31;5.63e-05)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CCTTTTCGTGTACAGCACATG	0.498													20	269					0	0	1	0	0	C	36168426	T	C	36168426	3	2	81	1	0	0	0	0	1	0	0	0	14417	1638	57	3	566	3	SKP2	5	36168426	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	30901	36168426	144746834	4329	7945											
NIPBL	25836	broad.mit.edu	37	5	36976068	36976068	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:36976068G>T	ENST00000282516.8	+	9	1558	c.1059G>T	c.(1057-1059)aaG>aaT	p.K353N	NIPBL_ENST00000504430.1_3'UTR|NIPBL_ENST00000448238.2_Missense_Mutation_p.K353N	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	353					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			CTCCATCCAAGGACTCTACTA	0.368													20	40					3.51602e-12	4.38715e-12	1	1	0	T	36976068	G	T	36976068	3	4	81	1	0	0	0	0	1	0	0	0	10475	991	35	4	1089	4	NIPBL	5	36976068	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	807642	36976068	143939192	4330	7946											
NIPBL	25836	broad.mit.edu	37	5	36985354	36985354	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:36985354G>A	ENST00000282516.8	+	10	2571	c.2072G>A	c.(2071-2073)gGc>gAc	p.G691D	NIPBL_ENST00000504430.1_3'UTR|NIPBL_ENST00000448238.2_Missense_Mutation_p.G691D	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	691					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			CAAAATAATGGCAGATCAGAA	0.408													20	39					0	0	1	0	0	A	36985354	G	A	36985354	3	1	81	1	0	0	0	0	1	0	0	0	10475	1203	42	2	2106	2	NIPBL	5	36985354	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	9286	36985354	143929906	4331	7947											
NIPBL	25836	broad.mit.edu	37	5	36986241	36986242	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:36986241_36986242insA	ENST00000282516.8	+	10	3458_3459	c.2959_2960insA	c.(2959-2961)gaafs	p.E987fs	NIPBL_ENST00000504430.1_3'UTR|NIPBL_ENST00000448238.2_Frame_Shift_Ins_p.E987fs	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	987					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			AGACAAAGTAGAAAAAATAGGA	0.337													28	151	---	---	---	---						A	36986242	-	A	36986241	7	5	81	1	0	1	1	0	0	0	0	0	10475	943	33	0	2993	0	NIPBL	5	36986241	Frame_Shift_Ins	INS	-	TCGA-DU-6392-01A-11D-1705-08	887	36986241	143929019	4332	7948											
NIPBL	25836	broad.mit.edu	37	5	37008826	37008826	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:37008826G>T	ENST00000282516.8	+	20	4920		c.e20+1		NIPBL_ENST00000448238.2_Splice_Site	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)						brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			GGAACTTCAGGTAATTAATTA	0.289													27	65					1.39806e-14	1.77612e-14	1	1	0	T	37008826	G	T	37008826	5	4	81	1	0	0	0	0	0	0	1	0	10475	1275	44	5	4496	5	NIPBL	5	37008826	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	22585	37008826	143906434	4333	7949											
NIPBL	25836	broad.mit.edu	37	5	37048693	37048693	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:37048693G>T	ENST00000282516.8	+	39	7178	c.6679G>T	c.(6679-6681)Gtc>Ttc	p.V2227F	NIPBL_ENST00000448238.2_Missense_Mutation_p.V2227F	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	2227					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			GAACTCCTCAGTCAATTTAAA	0.343													19	40					2.35188e-11	2.91332e-11	1	1	0	T	37048693	G	T	37048693	3	4	81	1	0	0	0	0	1	0	0	0	10475	1029	36	4	6829	4	NIPBL	5	37048693	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	39867	37048693	143866567	4334	7950											
C5orf42	65250	broad.mit.edu	37	5	37120417	37120417	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:37120417G>T	ENST00000274258.7	-	49	9330	c.5743C>A	c.(5743-5745)Cta>Ata	p.L1915I	C5orf42_ENST00000512288.1_5'UTR|C5orf42_ENST00000508244.1_Missense_Mutation_p.L3017I|C5orf42_ENST00000425232.2_Missense_Mutation_p.L3017I			E9PH94	E9PH94_HUMAN	chromosome 5 open reading frame 42	3017										breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			CGATTTATTAGAAAACTGTGA	0.368													4	37					0.00024832	0.000269806	1	1	0	T	37120417	G	T	37120417	3	4	81	1	0	0	0	0	1	0	0	0	2316	933	33	4	560	4	C5orf42	5	37120417	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	71724	37120417	143794843	4335	7951											
C5orf42	65250	broad.mit.edu	37	5	37121769	37121769	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:37121769T>C	ENST00000274258.7	-	48	9254	c.5667A>G	c.(5665-5667)aaA>aaG	p.K1889K	C5orf42_ENST00000512288.1_5'UTR|C5orf42_ENST00000508244.1_Silent_p.K2991K|C5orf42_ENST00000425232.2_Silent_p.K2991K			E9PH94	E9PH94_HUMAN	chromosome 5 open reading frame 42	2991										breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			TAGGGCTGGGTTTGTTAGGCA	0.463													17	41					0	0	1	0	0	C	37121769	T	C	37121769	2	2	81	1	0	0	0	0	0	0	0	1	2316	1722	60	3		3	C5orf42	5	37121769	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	1352	37121769	143793491	4336	7952											
C5orf42	65250	broad.mit.edu	37	5	37148318	37148319	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:37148318_37148319insT	ENST00000274258.7	-	42	8544_8545	c.4957_4958insA	c.(4957-4959)acafs	p.T1653fs	C5orf42_ENST00000425232.2_Frame_Shift_Ins_p.T2755fs|C5orf42_ENST00000508244.1_Frame_Shift_Ins_p.T2755fs			E9PH94	E9PH94_HUMAN	chromosome 5 open reading frame 42	2755										breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			TGAAGCTAATGTTTTTTTGAAT	0.371													19	29	---	---	---	---						T	37148319	-	T	37148318	7	5	81	1	0	1	1	0	0	0	0	0	2316	1377	48	0	1373	0	C5orf42	5	37148318	Frame_Shift_Ins	INS	-	TCGA-DU-6392-01A-11D-1705-08	26549	37148318	143766942	4337	7953											
C5orf42	65250	broad.mit.edu	37	5	37153906	37153906	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:37153906T>G	ENST00000274258.7	-	41	8428	c.4841A>C	c.(4840-4842)aAc>aCc	p.N1614T	C5orf42_ENST00000508244.1_Missense_Mutation_p.N2716T|C5orf42_ENST00000425232.2_Missense_Mutation_p.N2716T			E9PH94	E9PH94_HUMAN	chromosome 5 open reading frame 42	2716										breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			TTCAGCAATGTTCTGTATTGC	0.423													35	55					0	0	1	0	0	G	37153906	T	G	37153906	3	3	81	1	0	0	0	0	1	0	0	0	2316	1725	60	5	1494	5	C5orf42	5	37153906	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	5588	37153906	143761354	4338	7954											
C5orf42	65250	broad.mit.edu	37	5	37169450	37169450	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:37169450G>A	ENST00000274258.7	-	34	6903	c.3316C>T	c.(3316-3318)Cct>Tct	p.P1106S	C5orf42_ENST00000508244.1_Missense_Mutation_p.P2226S|C5orf42_ENST00000425232.2_Missense_Mutation_p.P2226S			E9PH94	E9PH94_HUMAN	chromosome 5 open reading frame 42	2226										breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			TGAAGCAAAGGAAAGCCATCA	0.423													32	59					0	0	1	0	0	A	37169450	G	A	37169450	3	1	81	1	0	0	0	0	1	0	0	0	2316	1174	41	2	2993	2	C5orf42	5	37169450	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	15544	37169450	143745810	4339	7955											
C5orf42	65250	broad.mit.edu	37	5	37196095	37196095	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:37196095G>A	ENST00000274258.7	-	21	3906	c.319C>T	c.(319-321)Cga>Tga	p.R107*	C5orf42_ENST00000508244.1_Nonsense_Mutation_p.R1226*|C5orf42_ENST00000425232.2_Nonsense_Mutation_p.R1226*			E9PH94	E9PH94_HUMAN	chromosome 5 open reading frame 42	1226										breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			CCTTTCATTCGAATCTAAAAG	0.358													21	33					0	0	1	0	0	A	37196095	G	A	37196095	4	1	81	1	0	0	0	0	0	1	0	0	2316	1066	37	1	6045	1	C5orf42	5	37196095	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	26645	37196095	143719165	4340	7956											
NUP155	9631	broad.mit.edu	37	5	37294509	37294509	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:37294509G>A	ENST00000231498.3	-	33	4055	c.3852C>T	c.(3850-3852)ttC>ttT	p.F1284F	NUP155_ENST00000381843.2_Silent_p.F1225F|NUP155_ENST00000513532.1_Silent_p.F1220F|NUP155_ENST00000502533.1_5'UTR	NM_153485.1	NP_705618.1	O75694	NU155_HUMAN	nucleoporin 155kDa	1284					carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore	protein binding|structural constituent of nuclear pore|transporter activity			endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	62	all_lung(31;0.000137)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TCTGTATTACGAAGCCCACAT	0.333													13	21					0	0	1	0	0	A	37294509	G	A	37294509	2	1	81	1	0	0	0	0	0	0	0	1	10804	1049	37	1		1	NUP155	5	37294509	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	98414	37294509	143620751	4341	7957											
NUP155	9631	broad.mit.edu	37	5	37324205	37324205	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:37324205T>G	ENST00000231498.3	-	20	2299	c.2096A>C	c.(2095-2097)gAa>gCa	p.E699A	NUP155_ENST00000381843.2_Missense_Mutation_p.E640A|NUP155_ENST00000513532.1_Missense_Mutation_p.E699A	NM_153485.1	NP_705618.1	O75694	NU155_HUMAN	nucleoporin 155kDa	699					carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore	protein binding|structural constituent of nuclear pore|transporter activity			endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	62	all_lung(31;0.000137)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AACACTACTTTCAATCTGTAA	0.338													6	49					0	0	1	0	0	G	37324205	T	G	37324205	3	3	81	1	0	0	0	0	1	0	0	0	10804	1783	62	5	2143	5	NUP155	5	37324205	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	29696	37324205	143591055	4342	7958											
NUP155	9631	broad.mit.edu	37	5	37350344	37350344	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:37350344T>C	ENST00000231498.3	-	7	950	c.747A>G	c.(745-747)caA>caG	p.Q249Q	NUP155_ENST00000381843.2_Silent_p.Q190Q|NUP155_ENST00000513532.1_Silent_p.Q249Q	NM_153485.1	NP_705618.1	O75694	NU155_HUMAN	nucleoporin 155kDa	249					carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore	protein binding|structural constituent of nuclear pore|transporter activity			endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	62	all_lung(31;0.000137)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TCCTACATCTTTGGCTAAACC	0.343													6	95					0	0	1	0	0	C	37350344	T	C	37350344	2	2	81	1	0	0	0	0	0	0	0	1	10804	1838	64	3		3	NUP155	5	37350344	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	26139	37350344	143564916	4343	7959											
WDR70	55100	broad.mit.edu	37	5	37392110	37392110	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:37392110G>T	ENST00000265107.4	+	4	340	c.184G>T	c.(184-186)Gaa>Taa	p.E62*	WDR70_ENST00000504564.1_Nonsense_Mutation_p.E62*	NM_018034.2	NP_060504.1	Q9NW82	WDR70_HUMAN	WD repeat domain 70	62										central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_lung(31;0.000285)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AGAAGCAAGAGAAAAAGAGGA	0.303													18	55					3.32936e-07	3.87413e-07	1	1	0	T	37392110	G	T	37392110	4	4	81	1	0	0	0	0	0	1	0	0	17381	943	33	4	198	4	WDR70	5	37392110	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	41766	37392110	143523150	4344	7960											
WDR70	55100	broad.mit.edu	37	5	37396660	37396660	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:37396660G>T	ENST00000265107.4	+	5	636	c.480G>T	c.(478-480)gaG>gaT	p.E160D	WDR70_ENST00000504564.1_Missense_Mutation_p.E160D	NM_018034.2	NP_060504.1	Q9NW82	WDR70_HUMAN	WD repeat domain 70	160	Glu-rich.									central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_lung(31;0.000285)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			aagaggaagaggaggaagagg	0.373													4	16					0.150653	0.152522	1	1	0	T	37396660	G	T	37396660	3	4	81	1	0	0	0	0	1	0	0	0	17381	991	35	4	498	4	WDR70	5	37396660	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	4550	37396660	143518600	4345	7961											
WDR70	55100	broad.mit.edu	37	5	37703146	37703146	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:37703146G>A	ENST00000265107.4	+	13	1529	c.1373G>A	c.(1372-1374)cGt>cAt	p.R458H		NM_018034.2	NP_060504.1	Q9NW82	WDR70_HUMAN	WD repeat domain 70	458										central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_lung(31;0.000285)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TTCTTTGAGCGTAGGACTTTC	0.423													34	49					0	0	1	0	0	A	37703146	G	A	37703146	3	1	81	1	0	0	0	0	1	0	0	0	17381	1145	40	1	1423	1	WDR70	5	37703146	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	306486	37703146	143212114	4346	7962											
WDR70	55100	broad.mit.edu	37	5	37721297	37721297	+	Silent	SNP	C	C	T	rs112595440	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:37721297C>T	ENST00000265107.4	+	14	1653	c.1497C>T	c.(1495-1497)taC>taT	p.Y499Y		NM_018034.2	NP_060504.1	Q9NW82	WDR70_HUMAN	WD repeat domain 70	499										central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_lung(31;0.000285)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AAGTCTATTACGACCCCAACA	0.468													33	47					0	0	1	0	0	T	37721297	C	T	37721297	2	4	81	1	0	0	0	0	0	0	0	1	17381	547	19	1		1	WDR70	5	37721297	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	18151	37721297	143193963	4347	7963											
EGFLAM	133584	broad.mit.edu	37	5	38435283	38435283	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:38435283C>T	ENST00000322350.5	+	16	2557	c.2211C>T	c.(2209-2211)ggC>ggT	p.G737G	EGFLAM_ENST00000397202.2_Silent_p.G103G|EGFLAM_ENST00000354891.3_Silent_p.G737G|EGFLAM_ENST00000336740.6_Silent_p.G503G	NM_152403.3	NP_689616.2	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	737	Laminin G-like 2.					cell junction|proteinaceous extracellular matrix|synapse				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					TTTTCATTGGCGGAGTCCCCA	0.423													30	38					0	0	1	0	0	T	38435283	C	T	38435283	2	4	81	1	0	0	0	0	0	0	0	1	4992	755	27	1		1	EGFLAM	5	38435283	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	713986	38435283	142479977	4348	7964											
OSMR	9180	broad.mit.edu	37	5	38925354	38925354	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:38925354C>T	ENST00000274276.3	+	15	2495	c.2093C>T	c.(2092-2094)gCa>gTa	p.A698V		NM_003999.2	NP_003990.1	Q99650	OSMR_HUMAN	oncostatin M receptor	698	Fibronectin type-III 4.				cell proliferation|positive regulation of cell proliferation	oncostatin-M receptor complex	growth factor binding|oncostatin-M receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46	all_lung(31;0.000365)					GAAGAAAAGGCATTGATTGTG	0.368													37	59					0	0	1	0	0	T	38925354	C	T	38925354	3	4	81	1	0	0	0	0	1	0	0	0	11339	710	25	2	2185	2	OSMR	5	38925354	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	490071	38925354	141989906	4349	7965											
OSMR	9180	broad.mit.edu	37	5	38933358	38933358	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:38933358G>A	ENST00000274276.3	+	18	3154	c.2752G>A	c.(2752-2754)Gtg>Atg	p.V918M		NM_003999.2	NP_003990.1	Q99650	OSMR_HUMAN	oncostatin M receptor	918					cell proliferation|positive regulation of cell proliferation	oncostatin-M receptor complex	growth factor binding|oncostatin-M receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46	all_lung(31;0.000365)					TTTGAATTATGTGTCCCAGTT	0.443													12	68					0	0	1	0	0	A	38933358	G	A	38933358	3	1	81	1	0	0	0	0	1	0	0	0	11339	1377	48	2	2856	2	OSMR	5	38933358	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	8004	38933358	141981902	4350	7966											
FYB	2533	broad.mit.edu	37	5	39126168	39126168	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:39126168T>C	ENST00000505428.1	-	12	2134	c.1977A>G	c.(1975-1977)aaA>aaG	p.K659K	FYB_ENST00000540520.1_Silent_p.K669K|FYB_ENST00000512982.1_Silent_p.K659K|FYB_ENST00000351578.6_Intron|FYB_ENST00000515010.1_Intron	NM_001465.4	NP_001456.3	O15117	FYB_HUMAN	FYN binding protein	636					cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway	cytosol|nucleus	protein binding			endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45	all_lung(31;0.000343)		Epithelial(62;0.235)			TTCTGTCATCTTTTCCCTTTA	0.408													4	45					0	0	1	0	0	C	39126168	T	C	39126168	2	2	81	1	0	0	0	0	0	0	0	1	6159	1606	56	3		3	FYB	5	39126168	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	192810	39126168	141789092	4351	7967											
FYB	2533	broad.mit.edu	37	5	39202952	39202952	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:39202952G>A	ENST00000351578.6	-	2	301	c.111C>T	c.(109-111)aaC>aaT	p.N37N	FYB_ENST00000540520.1_Silent_p.N47N|FYB_ENST00000512982.1_Silent_p.N37N|FYB_ENST00000505428.1_Silent_p.N37N|FYB_ENST00000515010.1_Silent_p.N37N	NM_199335.3	NP_955367.1	O15117	FYB_HUMAN	FYN binding protein	37					cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway	cytosol|nucleus	protein binding			endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45	all_lung(31;0.000343)		Epithelial(62;0.235)			TGTTGAATAAGTTCTTTCTTG	0.507													14	31					0	0	1	0	0	A	39202952	G	A	39202952	2	1	81	1	0	0	0	0	0	0	0	1	6159	1020	36	2		2	FYB	5	39202952	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	76784	39202952	141712308	4352	7968											
C9	735	broad.mit.edu	37	5	39341683	39341683	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:39341683G>A	ENST00000263408.4	-	3	398	c.303C>T	c.(301-303)tgC>tgT	p.C101C	C9_ENST00000509186.1_5'UTR	NM_001737.3	NP_001728.1	P02748	CO9_HUMAN	complement component 9	101	LDL-receptor class A.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes	extracellular region|membrane attack complex				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	Epithelial(62;0.158)			AGTCATTTCCGCAGTCATCCT	0.448													16	32					0	0	1	0	0	A	39341683	G	A	39341683	2	1	81	1	0	0	0	0	0	0	0	1	2461	1079	38	1		1	C9	5	39341683	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	138731	39341683	141573577	4353	7969											
DAB2	1601	broad.mit.edu	37	5	39375182	39375182	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:39375182G>T	ENST00000545653.1	-	13	2719	c.2189C>A	c.(2188-2190)gCt>gAt	p.A730D	DAB2_ENST00000339788.6_Missense_Mutation_p.A533D|DAB2_ENST00000509337.1_Missense_Mutation_p.A730D|DAB2_ENST00000320816.6_Missense_Mutation_p.A751D	NM_001244871.1	NP_001231800.1	P98082	DAB2_HUMAN	Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila)	751	Required for interaction with MYO6 (By similarity).				cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway	clathrin coated vesicle membrane|coated pit	protein C-terminus binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	47	all_lung(31;0.000197)		Epithelial(62;0.137)			TTGAGAAGAAGCCACCTAAGA	0.343													6	55					0.0215528	0.0221217	1	1	0	T	39375182	G	T	39375182	3	4	81	1	0	0	0	0	1	0	0	0	4242	971	34	4	64	4	DAB2	5	39375182	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	33499	39375182	141540078	4354	7970											
DAB2	1601	broad.mit.edu	37	5	39383090	39383090	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:39383090G>A	ENST00000545653.1	-	9	1438	c.908C>T	c.(907-909)tCg>tTg	p.S303L	DAB2_ENST00000339788.6_Intron|DAB2_ENST00000509337.1_Missense_Mutation_p.S303L|DAB2_ENST00000320816.6_Missense_Mutation_p.S324L	NM_001244871.1	NP_001231800.1	P98082	DAB2_HUMAN	Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila)	324				QPD -> HTR (in Ref. 8; AAA93195).	cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway	clathrin coated vesicle membrane|coated pit	protein C-terminus binding	p.S324*(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	47	all_lung(31;0.000197)		Epithelial(62;0.137)			CGAGCTACTCGAATTCTCTTT	0.468													30	64					0	0	1	0	0	A	39383090	G	A	39383090	3	1	81	1	0	0	0	0	1	0	0	0	4242	1059	37	1	1361	1	DAB2	5	39383090	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	7908	39383090	141532170	4355	7971											
PTGER4	5734	broad.mit.edu	37	5	40681118	40681118	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:40681118C>T	ENST00000302472.3	+	2	1047	c.23C>T	c.(22-24)tCg>tTg	p.S8L	PTGER4_ENST00000514343.1_3'UTR	NM_000958.2	NP_000949.1	P35408	PE2R4_HUMAN	prostaglandin E receptor 4 (subtype EP4)	8					G-protein signaling, coupled to cAMP nucleotide second messenger|immune response	integral to membrane|plasma membrane	prostaglandin E receptor activity			breast(1)|endometrium(3)|liver(1)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						GGGGTCAATTCGTCCGCCTCC	0.627											OREG0016588	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	55					0	0	1	0	0	T	40681118	C	T	40681118	3	4	81	1	0	0	0	0	1	0	0	0	12795	893	31	1	25	1	PTGER4	5	40681118	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1298028	40681118	140234142	4356	7972											
PTGER4	5734	broad.mit.edu	37	5	40681276	40681276	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:40681276C>T	ENST00000302472.3	+	2	1205	c.181C>T	c.(181-183)Ctg>Ttg	p.L61L	PTGER4_ENST00000514343.1_3'UTR	NM_000958.2	NP_000949.1	P35408	PE2R4_HUMAN	prostaglandin E receptor 4 (subtype EP4)	61					G-protein signaling, coupled to cAMP nucleotide second messenger|immune response	integral to membrane|plasma membrane	prostaglandin E receptor activity			breast(1)|endometrium(3)|liver(1)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						GGTATGTGGGCTGGCTGTCAC	0.622											OREG0016588	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	63					0	0	1	0	0	T	40681276	C	T	40681276	2	4	81	1	0	0	0	0	0	0	0	1	12795	796	28	2		2	PTGER4	5	40681276	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	158	40681276	140233984	4357	7973											
PRKAA1	5562	broad.mit.edu	37	5	40764715	40764715	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:40764715G>A	ENST00000397128.2	-	8	1344	c.1336C>T	c.(1336-1338)Cga>Tga	p.R446*	PRKAA1_ENST00000354209.3_Nonsense_Mutation_p.R461*	NM_006251.5|NM_206907.3	NP_006242.5|NP_996790.3	Q13131	AAPK1_HUMAN	protein kinase, AMP-activated, alpha 1 catalytic subunit	446					activation of MAPK activity|cell cycle arrest|cholesterol biosynthetic process|fatty acid biosynthetic process|insulin receptor signaling pathway|negative regulation of glucosylceramide biosynthetic process|positive regulation of anti-apoptosis|positive regulation of cholesterol biosynthetic process|regulation of fatty acid oxidation|response to hypoxia	cytosol	ATP binding|cAMP-dependent protein kinase activity|metal ion binding|protein binding			breast(1)	1					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Phenformin(DB00914)	TTCTTCCTTCGTACACGCAAA	0.353													4	48					0	0	1	0	0	A	40764715	G	A	40764715	4	1	81	1	0	0	0	0	0	1	0	0	12545	1153	40	1	351	1	PRKAA1	5	40764715	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	83439	40764715	140150545	4358	7974											
PRKAA1	5562	broad.mit.edu	37	5	40765006	40765006	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:40765006G>A	ENST00000397128.2	-	7	1164	c.1156C>T	c.(1156-1158)Cgc>Tgc	p.R386C	PRKAA1_ENST00000354209.3_Missense_Mutation_p.R401C	NM_006251.5|NM_206907.3	NP_006242.5|NP_996790.3	Q13131	AAPK1_HUMAN	protein kinase, AMP-activated, alpha 1 catalytic subunit	386					activation of MAPK activity|cell cycle arrest|cholesterol biosynthetic process|fatty acid biosynthetic process|insulin receptor signaling pathway|negative regulation of glucosylceramide biosynthetic process|positive regulation of anti-apoptosis|positive regulation of cholesterol biosynthetic process|regulation of fatty acid oxidation|response to hypoxia	cytosol	ATP binding|cAMP-dependent protein kinase activity|metal ion binding|protein binding			breast(1)	1					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Phenformin(DB00914)	AGGGTATGGCGTGCCCTTGGT	0.438													23	28					0	0	1	0	0	A	40765006	G	A	40765006	3	1	81	1	0	0	0	0	1	0	0	0	12545	1145	40	1	535	1	PRKAA1	5	40765006	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	291	40765006	140150254	4359	7975											
CARD6	84674	broad.mit.edu	37	5	40853382	40853382	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:40853382G>A	ENST00000254691.5	+	3	2147	c.1948G>A	c.(1948-1950)Gcc>Acc	p.A650T	CARD6_ENST00000381677.3_Intron	NM_032587.3	NP_115976.2	Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	650					apoptosis|regulation of apoptosis	intracellular				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						GGCCGCCCTGGCCAGGGAGCT	0.517													82	137					0	0	1	0	0	A	40853382	G	A	40853382	3	1	81	1	0	0	0	0	1	0	0	0	2668	1203	42	2	1958	2	CARD6	5	40853382	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	88376	40853382	140061878	4360	7976											
C7	730	broad.mit.edu	37	5	40964872	40964872	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:40964872A>C	ENST00000313164.9	+	14	2138	c.1779A>C	c.(1777-1779)aaA>aaC	p.K593N		NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	593	Sushi 1.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex							Ovarian(839;0.0112)				CTGTGGGGAAAAATGTAGTGT	0.378													26	49					0	0	1	0	0	C	40964872	A	C	40964872	3	2	81	1	0	0	0	0	1	0	0	0	2391	11	1	5	1833	5	C7	5	40964872	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	111490	40964872	139950388	4361	7977											
C7	730	broad.mit.edu	37	5	40979852	40979852	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:40979852G>T	ENST00000313164.9	+	17	2550	c.2191G>T	c.(2191-2193)Gat>Tat	p.D731Y	C7_ENST00000494960.1_3'UTR	NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	731	Complement control factor I module 1.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex							Ovarian(839;0.0112)				ATGTGCTCAAGATGAGAGAAG	0.388													16	21					3.41278e-10	4.16681e-10	1	1	0	T	40979852	G	T	40979852	3	4	81	1	0	0	0	0	1	0	0	0	2391	942	33	4	2257	4	C7	5	40979852	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	14980	40979852	139935408	4362	7978											
C6	729	broad.mit.edu	37	5	41149403	41149403	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:41149403T>C	ENST00000263413.3	-	17	2827	c.2563A>G	c.(2563-2565)Aac>Gac	p.N855D	C6_ENST00000337836.5_Missense_Mutation_p.N855D	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	855	C5b-binding domain.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				TTTGTGCTGTTGGATGAAAGT	0.413													80	130					0	0	1	0	0	C	41149403	T	C	41149403	3	2	81	1	0	0	0	0	1	0	0	0	2329	1812	63	3	249	3	C6	5	41149403	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	169551	41149403	139765857	4363	7979											
C6	729	broad.mit.edu	37	5	41176734	41176734	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:41176734G>T	ENST00000263413.3	-	8	1275	c.1011C>A	c.(1009-1011)gtC>gtA	p.V337V	C6_ENST00000337836.5_Silent_p.V337V|C6_ENST00000475349.1_5'UTR	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	337	MACPF.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				CTTTCAAAAAGACATCAGAAA	0.383													8	81					0.00448238	0.00470627	1	1	0	T	41176734	G	T	41176734	2	4	81	1	0	0	0	0	0	0	0	1	2329	929	33	4		4	C6	5	41176734	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	27331	41176734	139738526	4364	7980											
PLCXD3	345557	broad.mit.edu	37	5	41381941	41381941	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:41381941T>G	ENST00000377801.3	-	2	873	c.799A>C	c.(799-801)Aca>Cca	p.T267P	PLCXD3_ENST00000328457.3_Missense_Mutation_p.T267P			Q63HM9	PLCX3_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 3	267					intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						TCTGTGATTGTTTCTCTGAGG	0.408													24	41					0	0	1	0	0	G	41381941	T	G	41381941	3	3	81	1	0	0	0	0	1	0	0	0	12091	1725	60	5	174	5	PLCXD3	5	41381941	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	205207	41381941	139533319	4365	7981											
PLCXD3	345557	broad.mit.edu	37	5	41382049	41382049	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:41382049C>A	ENST00000377801.3	-	2	765	c.691G>T	c.(691-693)Gca>Tca	p.A231S	PLCXD3_ENST00000328457.3_Missense_Mutation_p.A231S			Q63HM9	PLCX3_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 3	231					intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						GTGATGGATGCTTGAAGAAAC	0.537													27	31					2.44723e-14	3.10401e-14	1	1	0	A	41382049	C	A	41382049	3	1	81	1	0	0	0	0	1	0	0	0	12091	797	28	4	282	4	PLCXD3	5	41382049	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	108	41382049	139533211	4366	7982											
PLCXD3	345557	broad.mit.edu	37	5	41382286	41382286	+	Nonsense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:41382286T>A	ENST00000377801.3	-	2	528	c.454A>T	c.(454-456)Aaa>Taa	p.K152*	PLCXD3_ENST00000328457.3_Nonsense_Mutation_p.K152*			Q63HM9	PLCX3_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 3	152	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						TGGTGATATTTCTGCATCCCA	0.413													54	91					0	0	1	0	0	A	41382286	T	A	41382286	4	1	81	1	0	0	0	0	0	1	0	0	12091	1792	62	5	519	5	PLCXD3	5	41382286	Nonsense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	237	41382286	139532974	4367	7983											
OXCT1	5019	broad.mit.edu	37	5	41803250	41803250	+	Missense_Mutation	SNP	C	C	T	rs121909301		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:41803250C>T	ENST00000196371.5	-	10	1131	c.971G>A	c.(970-972)gGa>gAa	p.G324E	OXCT1_ENST00000509987.1_Missense_Mutation_p.G138E	NM_000436.3	NP_000427.1	P55809	SCOT1_HUMAN	3-oxoacid CoA transferase 1	324			G -> E (in SCOTD).		cellular lipid metabolic process|ketone body catabolic process	mitochondrial matrix	3-oxoacid CoA-transferase activity|protein homodimerization activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(2)	28					Succinic acid(DB00139)	GAGAGGGATTCCTATGCCCAA	0.353													30	66					0	0	1	0	0	T	41803250	C	T	41803250	3	4	81	1	0	0	0	0	1	0	0	0	11376	855	30	2	623	2	OXCT1	5	41803250	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	420964	41803250	139112010	4368	7984											
C5orf51	285636	broad.mit.edu	37	5	41904531	41904531	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:41904531C>T	ENST00000381647.2	+	1	81	c.62C>T	c.(61-63)gCc>gTc	p.A21V	C5orf51_ENST00000505931.2_Intron	NM_175921.4	NP_787117.3	A6NDU8	CE051_HUMAN	chromosome 5 open reading frame 51	21										endometrium(1)|large_intestine(5)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11						CTGGCTCAGGCCCACATACAG	0.657													8	8					0	0	1	0	0	T	41904531	C	T	41904531	3	4	81	1	0	0	0	0	1	0	0	0	2323	739	26	2	64	2	C5orf51	5	41904531	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	101281	41904531	139010729	4369	7985											
GHR	2690	broad.mit.edu	37	5	42695035	42695035	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:42695035A>G	ENST00000230882.4	+	5	473	c.283A>G	c.(283-285)Act>Gct	p.T95A	GHR_ENST00000357703.3_Missense_Mutation_p.T73A|GHR_ENST00000537449.1_5'UTR	NM_000163.4|NM_001242399.2|NM_001242400.2|NM_001242401.3|NM_001242402.2|NM_001242403.2|NM_001242404.2|NM_001242405.2|NM_001242406.2	NP_000154.1|NP_001229328.1|NP_001229329.1|NP_001229330.1|NP_001229331.1|NP_001229332.1|NP_001229333.1|NP_001229334.1|NP_001229335.1	P10912	GHR_HUMAN	growth hormone receptor	95					2-oxoglutarate metabolic process|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|JAK-STAT cascade|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane	growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding			NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39		Myeloproliferative disorder(839;0.00878)			Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	tcaagaatggactcaagaatg	0.353													9	17					0	0	1	0	0	G	42695035	A	G	42695035	3	3	81	1	0	0	0	0	1	0	0	0	6413	275	10	3	297	3	GHR	5	42695035	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	790504	42695035	138220225	4370	7986											
GHR	2690	broad.mit.edu	37	5	42711316	42711316	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:42711316C>A	ENST00000230882.4	+	7	816	c.626C>A	c.(625-627)cCt>cAt	p.P209H	GHR_ENST00000357703.3_Missense_Mutation_p.P187H|GHR_ENST00000537449.1_Missense_Mutation_p.P22H	NM_000163.4|NM_001242399.2|NM_001242400.2|NM_001242401.3|NM_001242402.2|NM_001242403.2|NM_001242404.2|NM_001242405.2|NM_001242406.2	NP_000154.1|NP_001229328.1|NP_001229329.1|NP_001229330.1|NP_001229331.1|NP_001229332.1|NP_001229333.1|NP_001229334.1|NP_001229335.1	P10912	GHR_HUMAN	growth hormone receptor	209	Fibronectin type-III.				2-oxoglutarate metabolic process|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|JAK-STAT cascade|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane	growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding			NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39		Myeloproliferative disorder(839;0.00878)			Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	AAGATGGACCCTATATTGACA	0.378													9	109					4.68919e-08	5.54405e-08	1	1	0	A	42711316	C	A	42711316	3	1	81	1	0	0	0	0	1	0	0	0	6413	681	24	4	648	4	GHR	5	42711316	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	16281	42711316	138203944	4371	7987											
SEPP1	6414	broad.mit.edu	37	5	42801096	42801096	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:42801096G>A	ENST00000514985.1	-	5	1128	c.872C>T	c.(871-873)aCa>aTa	p.T291I	SEPP1_ENST00000511224.1_Missense_Mutation_p.T291I|SEPP1_ENST00000506577.1_Missense_Mutation_p.T291I|CCDC152_ENST00000361970.5_3'UTR|SEPP1_ENST00000509276.1_5'UTR|SEPP1_ENST00000507920.1_3'UTR	NM_005410.2	NP_005401.3	P49908	SEPP1_HUMAN	selenoprotein P, plasma, 1	291					response to oxidative stress	extracellular region	selenium binding			kidney(10)|large_intestine(1)|lung(4)	15						CTCTGAATCTGTGGGCAATTT	0.408													32	57					0	0	1	0	0	A	42801096	G	A	42801096	3	1	81	1	0	0	0	0	1	0	0	0	14111	1377	48	2	277	2	SEPP1	5	42801096	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	89780	42801096	138114164	4372	7988											
SEPP1	6414	broad.mit.edu	37	5	42801186	42801186	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:42801186C>T	ENST00000514985.1	-	5	1038	c.782G>A	c.(781-783)cGa>cAa	p.R261Q	SEPP1_ENST00000511224.1_Missense_Mutation_p.R261Q|SEPP1_ENST00000506577.1_Missense_Mutation_p.R261Q|CCDC152_ENST00000361970.5_3'UTR|SEPP1_ENST00000509276.1_5'UTR|SEPP1_ENST00000507920.1_Missense_Mutation_p.E151K	NM_005410.2	NP_005401.3	P49908	SEPP1_HUMAN	selenoprotein P, plasma, 1	261					response to oxidative stress	extracellular region	selenium binding			kidney(10)|large_intestine(1)|lung(4)	15						TGGCATATCTCGGTTCTCTGG	0.458													15	17					0	0	1	0	0	T	42801186	C	T	42801186	3	4	81	1	0	0	0	0	1	0	0	0	14111	884	31	1	367	1	SEPP1	5	42801186	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	90	42801186	138114074	4373	7989											
HMGCS1	3157	broad.mit.edu	37	5	43298869	43298869	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:43298869A>T	ENST00000325110.6	-	3	405	c.199T>A	c.(199-201)Tct>Act	p.S67T	HMGCS1_ENST00000433297.2_Missense_Mutation_p.S67T	NM_001098272.2	NP_001091742.1	Q01581	HMCS1_HUMAN	3-hydroxy-3-methylglutaryl-CoA synthase 1 (soluble)	67					cholesterol biosynthetic process|isoprenoid biosynthetic process	cytosol|soluble fraction	hydroxymethylglutaryl-CoA synthase activity			NS(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|stomach(1)|urinary_tract(1)	15						ATGCAAAGAGAGTTAATATCT	0.433													48	78					0	0	1	0	0	T	43298869	A	T	43298869	3	4	81	1	0	0	0	0	1	0	0	0	7273	304	11	5	1399	5	HMGCS1	5	43298869	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	497683	43298869	137616391	4374	7990											
C5orf34	375444	broad.mit.edu	37	5	43506021	43506021	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:43506021G>T	ENST00000306862.2	-	4	1136	c.761C>A	c.(760-762)cCt>cAt	p.P254H	RP11-159F24.3_ENST00000505645.1_RNA	NM_198566.2	NP_940968	Q96MH7	CE034_HUMAN	chromosome 5 open reading frame 34	254										breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|stomach(2)	21	Lung NSC(6;2.07e-05)					TAAAGACAAAGGATATTTCCA	0.398													12	86					7.03913e-09	8.42519e-09	1	1	0	T	43506021	G	T	43506021	3	4	81	1	0	0	0	0	1	0	0	0	2308	1000	35	4	1195	4	C5orf34	5	43506021	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	207152	43506021	137409239	4375	7991											
NNT	23530	broad.mit.edu	37	5	43609301	43609301	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:43609301G>A	ENST00000264663.5	+	2	225	c.4G>A	c.(4-6)Gca>Aca	p.A2T	NNT_ENST00000344920.4_Missense_Mutation_p.A2T|NNT_ENST00000512996.2_Intron	NM_012343.3	NP_036475.3	Q13423	NNTM_HUMAN	nicotinamide nucleotide transhydrogenase	2					tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain	NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(6;2.58e-06)				NADH(DB00157)	TATCAACATGGCAAACCTATT	0.398													23	30					0	0	1	0	0	A	43609301	G	A	43609301	3	1	81	1	0	0	0	0	1	0	0	0	10557	1203	42	2	6	2	NNT	5	43609301	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	103280	43609301	137305959	4376	7992											
NNT	23530	broad.mit.edu	37	5	43655960	43655960	+	Missense_Mutation	SNP	G	G	A	rs139987446		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:43655960G>A	ENST00000264663.5	+	15	2299	c.2078G>A	c.(2077-2079)cGc>cAc	p.R693H	NNT_ENST00000344920.4_Missense_Mutation_p.R693H|NNT_ENST00000512996.2_Missense_Mutation_p.R562H	NM_012343.3	NP_036475.3	Q13423	NNTM_HUMAN	nicotinamide nucleotide transhydrogenase	693					tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain	NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(6;2.58e-06)				NADH(DB00157)	ATTGCCAAACGCATCCAGATT	0.348													15	30					0	0	1	0	0	A	43655960	G	A	43655960	3	1	81	1	0	0	0	0	1	0	0	0	10557	1087	38	1	2132	1	NNT	5	43655960	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	46659	43655960	137259300	4377	7993											
NNT	23530	broad.mit.edu	37	5	43656860	43656860	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:43656860G>T	ENST00000264663.5	+	16	2620	c.2399G>T	c.(2398-2400)aGc>aTc	p.S800I	NNT_ENST00000344920.4_Missense_Mutation_p.S800I|NNT_ENST00000512996.2_Missense_Mutation_p.S669I	NM_012343.3	NP_036475.3	Q13423	NNTM_HUMAN	nicotinamide nucleotide transhydrogenase	800					tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain	NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(6;2.58e-06)				NADH(DB00157)	GTGGACCCAAGCTTTACTACT	0.493													34	41					6.05902e-23	7.96962e-23	1	1	0	T	43656860	G	T	43656860	3	4	81	1	0	0	0	0	1	0	0	0	10557	971	34	4	2457	4	NNT	5	43656860	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	900	43656860	137258400	4378	7994											
FGF10	2255	broad.mit.edu	37	5	44305208	44305208	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:44305208A>G	ENST00000264664.4	-	3	630	c.516T>C	c.(514-516)aaT>aaC	p.N172N		NM_004465.1	NP_004456.1	O15520	FGF10_HUMAN	fibroblast growth factor 10	172					actin cytoskeleton reorganization|activation of MAPK activity|bud outgrowth involved in lung branching|ERK1 and ERK2 cascade|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|insulin receptor signaling pathway|lacrimal gland development|lung saccule development|mesonephros development|negative regulation of cell cycle arrest|positive regulation of ATPase activity|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of DNA repair|positive regulation of DNA replication|positive regulation of epithelial cell migration|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of ERK1 and ERK2 cascade|positive regulation of hair follicle cell proliferation|positive regulation of keratinocyte migration|positive regulation of keratinocyte proliferation|positive regulation of lymphocyte proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of Ras protein signal transduction|positive regulation of transcription, DNA-dependent|positive regulation of urothelial cell proliferation|protein localization at cell surface|radial glial cell differentiation|regulation of saliva secretion|response to protein stimulus|secretion by lung epithelial cell involved in lung growth|tear secretion|thymus development|urothelial cell proliferation	cell surface|extracellular space|nucleus|plasma membrane	chemoattractant activity|growth factor activity|heparin binding|type 2 fibroblast growth factor receptor binding			haematopoietic_and_lymphoid_tissue(1)|lung(11)|skin(1)	13	Lung NSC(6;1.12e-06)					TTTGCCTCCCATTATGCTGCC	0.408													9	147					0	0	1	0	0	G	44305208	A	G	44305208	2	3	81	1	0	0	0	0	0	0	0	1	5872	214	8	3		3	FGF10	5	44305208	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	648348	44305208	136610052	4379	7995											
HCN1	348980	broad.mit.edu	37	5	45262378	45262378	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:45262378G>A	ENST00000303230.4	-	8	2375	c.2318C>T	c.(2317-2319)gCg>gTg	p.A773V		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	773						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						GTTGTGAAGCGCCTGCGTGCT	0.637													15	29					0	0	1	0	0	A	45262378	G	A	45262378	3	1	81	1	0	0	0	0	1	0	0	0	7037	1087	38	1	358	1	HCN1	5	45262378	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	957170	45262378	135652882	4380	7996											
PARP8	79668	broad.mit.edu	37	5	50123879	50123879	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:50123879C>A	ENST00000281631.5	+	20	2237	c.2079C>A	c.(2077-2079)acC>acA	p.T693T	PARP8_ENST00000505554.1_Silent_p.T672T|PARP8_ENST00000505697.2_Silent_p.T693T|PARP8_ENST00000511363.2_3'UTR|PARP8_ENST00000514342.2_Silent_p.T404T|PARP8_ENST00000514067.2_Silent_p.T651T|PARP8_ENST00000503750.2_Silent_p.T651T	NM_001178056.1|NM_024615.3	NP_001171527.1|NP_078891.2	Q8N3A8	PARP8_HUMAN	poly (ADP-ribose) polymerase family, member 8	693	PARP catalytic.					intracellular	NAD+ ADP-ribosyltransferase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Lung NSC(810;0.0305)|Breast(144;0.222)				TTGGAAGCACCTTTGCATTTC	0.393													7	71					0.307466	0.308658	1	1	0	A	50123879	C	A	50123879	2	1	81	1	0	0	0	0	0	0	0	1	11512	668	24	4		4	PARP8	5	50123879	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	4861501	50123879	130791381	4381	7997											
PARP8	79668	broad.mit.edu	37	5	50125766	50125766	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:50125766C>T	ENST00000281631.5	+	22	2362	c.2204C>T	c.(2203-2205)cCa>cTa	p.P735L	PARP8_ENST00000505554.1_Missense_Mutation_p.P714L|PARP8_ENST00000505697.2_Missense_Mutation_p.P735L|PARP8_ENST00000511363.2_3'UTR|PARP8_ENST00000514342.2_Missense_Mutation_p.P446L|PARP8_ENST00000514067.2_Missense_Mutation_p.P693L|PARP8_ENST00000503750.2_Missense_Mutation_p.P693L	NM_001178056.1|NM_024615.3	NP_001171527.1|NP_078891.2	Q8N3A8	PARP8_HUMAN	poly (ADP-ribose) polymerase family, member 8	735	PARP catalytic.					intracellular	NAD+ ADP-ribosyltransferase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Lung NSC(810;0.0305)|Breast(144;0.222)				TATCTTAGTCCAATGTCAAGC	0.333													29	55					0	0	1	0	0	T	50125766	C	T	50125766	3	4	81	1	0	0	0	0	1	0	0	0	11512	594	21	2	2290	2	PARP8	5	50125766	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1887	50125766	130789494	4382	7998											
ISL1	3670	broad.mit.edu	37	5	50680528	50680528	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:50680528G>T	ENST00000230658.7	+	2	767	c.182G>T	c.(181-183)aGg>aTg	p.R61M	ISL1_ENST00000511384.1_Missense_Mutation_p.R61M	NM_002202.2	NP_002193.2	P61371	ISL1_HUMAN	ISL LIM homeobox 1	61	LIM zinc-binding 1.				generation of precursor metabolites and energy|multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(11)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31		Lung NSC(810;0.000845)|Breast(144;0.0411)				TGCTTTGTTAGGGATGGGAAA	0.403													62	107					9.65139e-37	1.29351e-36	1	1	0	T	50680528	G	T	50680528	3	4	81	1	0	0	0	0	1	0	0	0	7900	1000	35	4	188	4	ISL1	5	50680528	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	554762	50680528	130234732	4383	7999											
ITGA1	3672	broad.mit.edu	37	5	52216289	52216289	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:52216289C>A	ENST00000282588.6	+	17	2741	c.2283C>A	c.(2281-2283)ttC>ttA	p.F761L		NM_181501.1	NP_852478.1	P56199	ITA1_HUMAN	integrin, alpha 1	761					axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction	integrin complex	collagen binding|receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(810;5.05e-05)|Breast(144;0.0851)				AGCACTCCTTCTACATGTTGG	0.348													23	27					5.35356e-11	6.60132e-11	1	1	0	A	52216289	C	A	52216289	3	1	81	1	0	0	0	0	1	0	0	0	7916	912	32	4	2349	4	ITGA1	5	52216289	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1535761	52216289	128698971	4384	8000											
ITGA1	3672	broad.mit.edu	37	5	52227879	52227879	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:52227879A>T	ENST00000282588.6	+	22	3232	c.2774A>T	c.(2773-2775)gAc>gTc	p.D925V		NM_181501.1	NP_852478.1	P56199	ITA1_HUMAN	integrin, alpha 1	925					axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction	integrin complex	collagen binding|receptor activity	p.D925G(1)		NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(810;5.05e-05)|Breast(144;0.0851)				TTTTCTAGTGACAGCGAAGAA	0.353													11	35					0	0	1	0	0	T	52227879	A	T	52227879	3	4	81	1	0	0	0	0	1	0	0	0	7916	275	10	5	2860	5	ITGA1	5	52227879	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	11590	52227879	128687381	4385	8001											
ITGA2	3673	broad.mit.edu	37	5	52337985	52337985	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:52337985A>G	ENST00000296585.5	+	3	372	c.229A>G	c.(229-231)Atg>Gtg	p.M77V		NM_002203.3	NP_002194.2	P17301	ITA2_HUMAN	integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	77					axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis	integrin complex	collagen binding|identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)				TGAGAACCGAATGGGAGATGT	0.353													34	65					0	0	1	0	0	G	52337985	A	G	52337985	3	3	81	1	0	0	0	0	1	0	0	0	7919	101	4	3	239	3	ITGA2	5	52337985	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	110106	52337985	128577275	4386	8002											
ITGA2	3673	broad.mit.edu	37	5	52376351	52376351	+	Missense_Mutation	SNP	G	G	T	rs35513357		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:52376351G>T	ENST00000296585.5	+	25	3082	c.2939G>T	c.(2938-2940)gGa>gTa	p.G980V		NM_002203.3	NP_002194.2	P17301	ITA2_HUMAN	integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	980					axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis	integrin complex	collagen binding|identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)				GTAACAACAGGAAGTGTTCCA	0.438													21	40					2.4624e-09	2.97042e-09	1	1	0	T	52376351	G	T	52376351	3	4	81	1	0	0	0	0	1	0	0	0	7919	1174	41	5	3037	5	ITGA2	5	52376351	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	38366	52376351	128538909	4387	8003											
ITGA2	3673	broad.mit.edu	37	5	52376441	52376441	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:52376441delA	ENST00000296585.5	+	25	3172	c.3029delA	c.(3028-3030)caafs	p.Q1010fs		NM_002203.3	NP_002194.2	P17301	ITA2_HUMAN	integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	1010					axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis	integrin complex	collagen binding|identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)				ACTGGGGTGCAAACAGACAAG	0.378													7	53	---	---	---	---						-	52376441	A	-	52376441	7	5	81	1	0	1	0	1	0	0	0	0	7919	130	5	0	3127	0	ITGA2	5	52376441	Frame_Shift_Del	DEL	A	TCGA-DU-6392-01A-11D-1705-08	90	52376441	128538819	4388	8004											
ITGA2	3673	broad.mit.edu	37	5	52379220	52379220	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:52379220T>C	ENST00000296585.5	+	27	3338	c.3195T>C	c.(3193-3195)gtT>gtC	p.V1065V		NM_002203.3	NP_002194.2	P17301	ITA2_HUMAN	integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	1065					axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis	integrin complex	collagen binding|identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)				TGAAAGACGTTCACATGAAAG	0.358													18	29					0	0	1	0	0	C	52379220	T	C	52379220	2	2	81	1	0	0	0	0	0	0	0	1	7919	1770	62	3		3	ITGA2	5	52379220	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	2779	52379220	128536040	4389	8005											
MOCS2	4338	broad.mit.edu	37	5	52397956	52397956	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:52397956G>A	ENST00000396954.3	-	4	874	c.197C>T	c.(196-198)cCg>cTg	p.P66L	MOCS2_ENST00000510818.2_3'UTR|MOCS2_ENST00000582677.1_Intron|MOCS2_ENST00000584946.1_Intron|MOCS2_ENST00000508922.1_3'UTR|MOCS2_ENST00000527216.1_3'UTR|MOCS2_ENST00000450852.3_3'UTR|MOCS2_ENST00000361377.4_3'UTR	NM_004531.3	NP_004522.1	O96033	MOC2A_HUMAN	molybdenum cofactor synthesis 2	0					Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol|molybdopterin synthase complex	nucleotide binding			endometrium(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	5		Lung NSC(810;3.08e-05)|Breast(144;0.0848)				ACCACAGAGCGGAGAAATCAC	0.358													6	27					0	0	1	0	0	A	52397956	G	A	52397956	3	1	81	1	0	0	0	0	1	0	0	0	9740	1116	39	1	385	1	MOCS2	5	52397956	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	18736	52397956	128517304	4390	8006											
MOCS2	4338	broad.mit.edu	37	5	52397989	52397990	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:52397989_52397990insA	ENST00000396954.3	-	4	840_841	c.163_164insT	c.(163-165)tcafs	p.S55fs	MOCS2_ENST00000584946.1_Intron|MOCS2_ENST00000361377.4_3'UTR|MOCS2_ENST00000450852.3_3'UTR|MOCS2_ENST00000510818.2_3'UTR|MOCS2_ENST00000508922.1_3'UTR|MOCS2_ENST00000527216.1_3'UTR|MOCS2_ENST00000582677.1_Intron	NM_004531.3	NP_004522.1	O96033	MOC2A_HUMAN	molybdenum cofactor synthesis 2	0					Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol|molybdopterin synthase complex	nucleotide binding			endometrium(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	5		Lung NSC(810;3.08e-05)|Breast(144;0.0848)				TTCATCTACTGAAAGTTTCTCG	0.347													17	24	---	---	---	---						A	52397990	-	A	52397989	7	5	81	1	0	1	1	0	0	0	0	0	9740	1294	45	0	418	0	MOCS2	5	52397989	Frame_Shift_Ins	INS	-	TCGA-DU-6392-01A-11D-1705-08	33	52397989	128517271	4391	8007											
FST	10468	broad.mit.edu	37	5	52779374	52779374	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:52779374C>T	ENST00000396947.3	+	3	484	c.318C>T	c.(316-318)tgC>tgT	p.C106C	FST_ENST00000256759.3_Silent_p.C106C	NM_006350.3	NP_006341.1	P19883	FST_HUMAN	follistatin	106	Follistatin-like 1.				hemopoietic progenitor cell differentiation|negative regulation of activin receptor signaling pathway|negative regulation of follicle-stimulating hormone secretion|negative regulation of transcription from RNA polymerase II promoter|positive regulation of hair follicle development	extracellular region	activin binding|protein binding|signal transducer activity			breast(1)|endometrium(1)|large_intestine(4)|lung(7)|prostate(1)|urinary_tract(1)	15		Ovarian(174;1.78e-06)|Lung NSC(810;3.55e-06)|Breast(144;4.08e-05)				GGAAAAAATGCCGAATGAACA	0.537													5	22					0	0	1	0	0	T	52779374	C	T	52779374	2	4	81	1	0	0	0	0	0	0	0	1	6111	747	26	2		2	FST	5	52779374	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	381385	52779374	128135886	4392	8008											
ARL15	54622	broad.mit.edu	37	5	53409155	53409155	+	Translation_Start_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:53409155C>A	ENST00000502271.1	-	0	355				ARL15_ENST00000507646.2_Missense_Mutation_p.E113D|ARL15_ENST00000504924.1_Missense_Mutation_p.E113D|ARL15_ENST00000510591.2_5'UTR			Q9NXU5	ARL15_HUMAN	ADP-ribosylation factor-like 15								GTP binding			endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	6		Lung NSC(810;0.000779)				CTAAATCATCCTCTGAAGAGG	0.423													12	23					9.31168e-06	1.05369e-05	1	1	0	A	53409155	C	A	53409155	1	1	81	1	0	0	0	0	0	0	0	0	928	680	24	4		4	ARL15	5	53409155	Translation_Start_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	629781	53409155	127506105	4393	8009											
DHX29	54505	broad.mit.edu	37	5	54579475	54579475	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:54579475T>C	ENST00000251636.5	-	11	1669	c.1521A>G	c.(1519-1521)caA>caG	p.Q507Q	RP11-506H20.1_ENST00000506435.1_RNA	NM_019030.2	NP_061903.2	Q7Z478	DHX29_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 29	507							ATP binding|ATP-dependent helicase activity|translation initiation factor activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|lung(6)|ovary(4)|prostate(1)|skin(3)|urinary_tract(2)	46		Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183)				CAGAATGCTGTTGTTGCTGCT	0.368													7	136					0	0	1	0	0	C	54579475	T	C	54579475	2	2	81	1	0	0	0	0	0	0	0	1	4531	1722	60	3		3	DHX29	5	54579475	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	1170320	54579475	126335785	4394	8010											
SKIV2L2	23517	broad.mit.edu	37	5	54640973	54640973	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:54640973G>A	ENST00000230640.5	+	10	1311	c.1057G>A	c.(1057-1059)Gca>Aca	p.A353T	SKIV2L2_ENST00000545714.1_Missense_Mutation_p.A252T	NM_015360.4	NP_056175.3	P42285	SK2L2_HUMAN	superkiller viralicidic activity 2-like 2 (S. cerevisiae)	353					maturation of 5.8S rRNA	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			NS(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194)				GCTTCGAGATGCAGGTGATTT	0.353													15	22					0	0	1	0	0	A	54640973	G	A	54640973	3	1	81	1	0	0	0	0	1	0	0	0	14415	1319	46	2	1095	2	SKIV2L2	5	54640973	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	61498	54640973	126274287	4395	8011											
PPAP2A	8611	broad.mit.edu	37	5	54763817	54763817	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:54763817C>T	ENST00000307259.8	-	3	791	c.371G>A	c.(370-372)gGc>gAc	p.G124D	PPAP2A_ENST00000264775.5_Missense_Mutation_p.G125D|PPAP2A_ENST00000515132.1_5'UTR	NM_003711.2	NP_003702.2	O14494	LPP1_HUMAN	phosphatidic acid phosphatase type 2A	124					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|androgen receptor signaling pathway|germ cell migration|negative regulation of cell proliferation|phospholipid dephosphorylation|regulation of lipid metabolic process|sphingolipid metabolic process	integral to plasma membrane|membrane fraction	phosphatidate phosphatase activity|sphingosine-1-phosphate phosphatase activity			breast(2)|endometrium(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)	9		Lung NSC(810;4.08e-05)|Prostate(74;0.0181)|Breast(144;0.0544)				CCGCAGTCTGCCTATTGAATA	0.423													46	51					0	0	1	0	0	T	54763817	C	T	54763817	3	4	81	1	0	0	0	0	1	0	0	0	12335	739	26	2	499	2	PPAP2A	5	54763817	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	122844	54763817	126151443	4396	8012											
PPAP2A	8611	broad.mit.edu	37	5	54763910	54763910	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:54763910T>G	ENST00000307259.8	-	3	698	c.278A>C	c.(277-279)aAc>aCc	p.N93T	PPAP2A_ENST00000264775.5_Missense_Mutation_p.N94T|PPAP2A_ENST00000515132.1_5'UTR	NM_003711.2	NP_003702.2	O14494	LPP1_HUMAN	phosphatidic acid phosphatase type 2A	93					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|androgen receptor signaling pathway|germ cell migration|negative regulation of cell proliferation|phospholipid dephosphorylation|regulation of lipid metabolic process|sphingolipid metabolic process	integral to plasma membrane|membrane fraction	phosphatidate phosphatase activity|sphingosine-1-phosphate phosphatase activity			breast(2)|endometrium(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)	9		Lung NSC(810;4.08e-05)|Prostate(74;0.0181)|Breast(144;0.0544)				GGCTATGTAGTTATTCCTGAT	0.368													8	76					0	0	1	0	0	G	54763910	T	G	54763910	3	3	81	1	0	0	0	0	1	0	0	0	12335	1725	60	5	592	5	PPAP2A	5	54763910	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	93	54763910	126151350	4397	8013											
SLC38A9	153129	broad.mit.edu	37	5	54929684	54929684	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:54929684G>A	ENST00000396865.2	-	14	1919	c.1328C>T	c.(1327-1329)gCa>gTa	p.A443V	SLC38A9_ENST00000318672.3_Missense_Mutation_p.A443V|SLC38A9_ENST00000515629.1_Missense_Mutation_p.A380V|SLC38A9_ENST00000539768.1_3'UTR|SLC38A9_ENST00000512595.1_Missense_Mutation_p.A380V|SLC38A9_ENST00000416547.2_Missense_Mutation_p.A319V	NM_173514.3	NP_775785.2	Q8NBW4	S38A9_HUMAN	solute carrier family 38, member 9	443					amino acid transport|sodium ion transport	integral to membrane				endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	8		Lung NSC(810;0.00122)|Prostate(74;0.0376)|Breast(144;0.181)				GAATATCCTTGCAATGAAGGA	0.413													18	23					0	0	1	0	0	A	54929684	G	A	54929684	3	1	81	1	0	0	0	0	1	0	0	0	14666	1319	46	2	369	2	SLC38A9	5	54929684	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	165774	54929684	125985576	4398	8014											
DDX4	54514	broad.mit.edu	37	5	55075867	55075867	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:55075867G>A	ENST00000505374.1	+	8	562	c.470G>A	c.(469-471)cGt>cAt	p.R157H	DDX4_ENST00000514278.2_Missense_Mutation_p.R137H|DDX4_ENST00000353507.5_Intron|DDX4_ENST00000511853.1_Intron|DDX4_ENST00000354991.5_Intron	NM_024415.2	NP_077726.1	Q9NQI0	DDX4_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 4	157	Gly-rich.				multicellular organismal development|sperm motility	perinuclear region of cytoplasm|pi-body|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	24		Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223)				CGAGGTTGCCGTGGAGGATTT	0.373													10	36					0	0	1	0	0	A	55075867	G	A	55075867	3	1	81	1	0	0	0	0	1	0	0	0	4383	1145	40	1	537	1	DDX4	5	55075867	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	146183	55075867	125839393	4399	8015											
DDX4	54514	broad.mit.edu	37	5	55086459	55086459	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:55086459C>T	ENST00000505374.1	+	16	1320	c.1228C>T	c.(1228-1230)Cga>Tga	p.R410*	DDX4_ENST00000514278.2_Nonsense_Mutation_p.R390*|DDX4_ENST00000353507.5_Nonsense_Mutation_p.R376*|DDX4_ENST00000511853.1_Nonsense_Mutation_p.R261*|DDX4_ENST00000354991.5_Nonsense_Mutation_p.R376*	NM_024415.2	NP_077726.1	Q9NQI0	DDX4_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 4	410	Helicase ATP-binding.				multicellular organismal development|sperm motility	perinuclear region of cytoplasm|pi-body|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	24		Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223)				ACATTCAATTCGACAAATAGT	0.343													60	92					0	0	1	0	0	T	55086459	C	T	55086459	4	4	81	1	0	0	0	0	0	1	0	0	4383	876	31	1	1327	1	DDX4	5	55086459	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	10592	55086459	125828801	4400	8016											
IL31RA	133396	broad.mit.edu	37	5	55206493	55206493	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:55206493G>A	ENST00000396834.1	+	14	2074	c.1578G>A	c.(1576-1578)ttG>ttA	p.L526L	IL31RA_ENST00000359040.5_Silent_p.L545L|IL31RA_ENST00000354961.4_Silent_p.L526L|IL31RA_ENST00000490985.1_Silent_p.L403L|IL31RA_ENST00000447346.2_Silent_p.L545L	NM_001242638.1	NP_001229567.1	Q8NI17	IL31R_HUMAN	interleukin 31 receptor A	513					anti-apoptosis|defense response|homeostatic process|JAK-STAT cascade|macrophage differentiation|MAPKKK cascade|monocyte differentiation|negative regulation of macrophage activation|positive regulation of cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|transmembrane receptor protein tyrosine kinase signaling pathway	integral to membrane|plasma membrane	cytokine receptor activity|protein kinase binding|transcription coactivator activity			endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)	21		Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223)				TCAAGACATTGTCATTCAGTG	0.478													8	97					0	0	1	0	0	A	55206493	G	A	55206493	2	1	81	1	0	0	0	0	0	0	0	1	7735	1368	48	2		2	IL31RA	5	55206493	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	120034	55206493	125708767	4401	8017											
IL31RA	133396	broad.mit.edu	37	5	55212718	55212718	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:55212718C>A	ENST00000447346.2	+	15	2130	c.2065C>A	c.(2065-2067)Ctc>Atc	p.L689I	IL31RA_ENST00000396834.1_Intron|IL31RA_ENST00000359040.5_Intron|IL31RA_ENST00000354961.4_Intron|IL31RA_ENST00000490985.1_Missense_Mutation_p.L547I	NM_001242636.1|NM_139017.5	NP_001229565.1|NP_620586.3	Q8NI17	IL31R_HUMAN	interleukin 31 receptor A	657					anti-apoptosis|defense response|homeostatic process|JAK-STAT cascade|macrophage differentiation|MAPKKK cascade|monocyte differentiation|negative regulation of macrophage activation|positive regulation of cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|transmembrane receptor protein tyrosine kinase signaling pathway	integral to membrane|plasma membrane	cytokine receptor activity|protein kinase binding|transcription coactivator activity			endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)	21		Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223)				TTTTGAGGAGCTCCCAGTTTC	0.527													6	64					8.12818e-05	8.94031e-05	1	1	0	A	55212718	C	A	55212718	3	1	81	1	0	0	0	0	1	0	0	0	7735	797	28	4	2123	4	IL31RA	5	55212718	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	6225	55212718	125702542	4402	8018											
IL6ST	3572	broad.mit.edu	37	5	55265611	55265611	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:55265611G>A	ENST00000381298.2	-	4	449	c.137C>T	c.(136-138)gCa>gTa	p.A46V	IL6ST_ENST00000502326.3_Missense_Mutation_p.A46V|IL6ST_ENST00000381286.3_Intron|IL6ST_ENST00000577363.1_Intron|IL6ST_ENST00000381293.2_Missense_Mutation_p.A46V|IL6ST_ENST00000522633.2_Missense_Mutation_p.A46V|IL6ST_ENST00000381287.4_Missense_Mutation_p.A46V|IL6ST_ENST00000396816.1_Intron|IL6ST_ENST00000536319.1_Missense_Mutation_p.A46V|IL6ST_ENST00000336909.5_Missense_Mutation_p.A46V|IL6ST_ENST00000381294.3_Missense_Mutation_p.A46V	NM_001190981.1|NM_002184.3|NM_175767.2	NP_001177910.1|NP_002175.2|NP_786943.1	P40189	IL6RB_HUMAN	interleukin 6 signal transducer (gp130, oncostatin M receptor)	46	Ig-like C2-type.				interleukin-6-mediated signaling pathway|leukemia inhibitory factor signaling pathway|negative regulation of interleukin-6-mediated signaling pathway|positive regulation of anti-apoptosis|positive regulation of cardiac muscle hypertrophy|positive regulation of osteoblast differentiation|positive regulation of T cell proliferation|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation vascular endothelial growth factor production	ciliary neurotrophic factor receptor complex|extracellular region|extracellular space|interleukin-6 receptor complex|oncostatin-M receptor complex	ciliary neurotrophic factor receptor activity|ciliary neurotrophic factor receptor binding|growth factor binding|protein homodimerization activity			breast(2)|endometrium(5)|kidney(5)|large_intestine(4)|liver(2)|lung(1)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223)				CACACAAACTGCAGTGAAATT	0.308			O		hepatocellular ca								27	48					0	0	1	0	0	A	55265611	G	A	55265611	3	1	81	1	0	0	0	0	1	0	0	0	7747	1319	46	2	2675	2	IL6ST	5	55265611	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	52893	55265611	125649649	4403	8019											
MAP3K1	4214	broad.mit.edu	37	5	56160646	56160646	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:56160646G>A	ENST00000399503.3	+	4	920	c.920G>A	c.(919-921)cGt>cAt	p.R307H		NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase	307					cellular response to mechanical stimulus|innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|zinc ion binding			NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		ACAAACCGCCGTGTTAACAAA	0.498													8	42					0	0	1	0	0	A	56160646	G	A	56160646	3	1	81	1	0	0	0	0	1	0	0	0	9293	1145	40	1	934	1	MAP3K1	5	56160646	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	895035	56160646	124754614	4404	8020											
PLK2	10769	broad.mit.edu	37	5	57750455	57750456	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:57750455_57750456insT	ENST00000274289.3	-	14	2312_2313	c.2012_2013insA	c.(2011-2013)aatfs	p.N671fs	PLK2_ENST00000502671.1_Intron	NM_001252226.1|NM_006622.3	NP_001239155.1|NP_006613.2	Q9NYY3	PLK2_HUMAN	polo-like kinase 2	671	POLO box 2.				positive regulation of I-kappaB kinase/NF-kappaB cascade		ATP binding|protein binding|protein serine/threonine kinase activity|signal transducer activity			endometrium(7)|large_intestine(7)|lung(5)|ovary(3)|prostate(2)|skin(2)	26		all_cancers(5;1.76e-12)|all_epithelial(5;2.09e-13)|all_lung(5;6.64e-05)|Lung NSC(5;0.000127)|Prostate(74;0.055)|Breast(144;0.0602)|Ovarian(174;0.182)		OV - Ovarian serous cystadenocarcinoma(10;7.03e-37)		ATTCCATTCGATTTTTTAATTC	0.401													42	89	---	---	---	---						T	57750456	-	T	57750455	7	5	81	1	0	1	1	0	0	0	0	0	12144	330	12	0	48	0	PLK2	5	57750455	Frame_Shift_Ins	INS	-	TCGA-DU-6392-01A-11D-1705-08	1589809	57750455	123164805	4405	8021											
PLK2	10769	broad.mit.edu	37	5	57751143	57751143	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:57751143A>C	ENST00000274289.3	-	12	2024	c.1724T>G	c.(1723-1725)tTt>tGt	p.F575C	PLK2_ENST00000502671.1_Intron	NM_001252226.1|NM_006622.3	NP_001239155.1|NP_006613.2	Q9NYY3	PLK2_HUMAN	polo-like kinase 2	575					positive regulation of I-kappaB kinase/NF-kappaB cascade		ATP binding|protein binding|protein serine/threonine kinase activity|signal transducer activity			endometrium(7)|large_intestine(7)|lung(5)|ovary(3)|prostate(2)|skin(2)	26		all_cancers(5;1.76e-12)|all_epithelial(5;2.09e-13)|all_lung(5;6.64e-05)|Lung NSC(5;0.000127)|Prostate(74;0.055)|Breast(144;0.0602)|Ovarian(174;0.182)		OV - Ovarian serous cystadenocarcinoma(10;7.03e-37)		GTAATGAGAAAAGTATTTCAG	0.438													9	136					0	0	1	0	0	C	57751143	A	C	57751143	3	2	81	1	0	0	0	0	1	0	0	0	12144	14	1	5	345	5	PLK2	5	57751143	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	688	57751143	123164117	4406	8022											
PLK2	10769	broad.mit.edu	37	5	57751594	57751594	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:57751594C>A	ENST00000274289.3	-	11	1697	c.1397G>T	c.(1396-1398)aGt>aTt	p.S466I	PLK2_ENST00000502671.1_Intron	NM_001252226.1|NM_006622.3	NP_001239155.1|NP_006613.2	Q9NYY3	PLK2_HUMAN	polo-like kinase 2	466					positive regulation of I-kappaB kinase/NF-kappaB cascade		ATP binding|protein binding|protein serine/threonine kinase activity|signal transducer activity			endometrium(7)|large_intestine(7)|lung(5)|ovary(3)|prostate(2)|skin(2)	26		all_cancers(5;1.76e-12)|all_epithelial(5;2.09e-13)|all_lung(5;6.64e-05)|Lung NSC(5;0.000127)|Prostate(74;0.055)|Breast(144;0.0602)|Ovarian(174;0.182)		OV - Ovarian serous cystadenocarcinoma(10;7.03e-37)		TCCCATGGTACTGTCTTCAAG	0.438													6	54					3.59834e-05	3.99423e-05	1	1	0	A	57751594	C	A	57751594	3	1	81	1	0	0	0	0	1	0	0	0	12144	565	20	4	676	4	PLK2	5	57751594	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	451	57751594	123163666	4407	8023											
PLK2	10769	broad.mit.edu	37	5	57751887	57751887	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:57751887T>C	ENST00000274289.3	-	10	1650	c.1350A>G	c.(1348-1350)agA>agG	p.R450R	PLK2_ENST00000502671.1_Intron	NM_001252226.1|NM_006622.3	NP_001239155.1|NP_006613.2	Q9NYY3	PLK2_HUMAN	polo-like kinase 2	450					positive regulation of I-kappaB kinase/NF-kappaB cascade		ATP binding|protein binding|protein serine/threonine kinase activity|signal transducer activity			endometrium(7)|large_intestine(7)|lung(5)|ovary(3)|prostate(2)|skin(2)	26		all_cancers(5;1.76e-12)|all_epithelial(5;2.09e-13)|all_lung(5;6.64e-05)|Lung NSC(5;0.000127)|Prostate(74;0.055)|Breast(144;0.0602)|Ovarian(174;0.182)		OV - Ovarian serous cystadenocarcinoma(10;7.03e-37)		CAAGAGTCCCTCTGACTATCA	0.453													11	50					0	0	1	0	0	C	57751887	T	C	57751887	2	2	81	1	0	0	0	0	0	0	0	1	12144	1548	54	3		3	PLK2	5	57751887	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	293	57751887	123163373	4408	8024											
PLK2	10769	broad.mit.edu	37	5	57754828	57754828	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:57754828G>T	ENST00000274289.3	-	2	662	c.362C>A	c.(361-363)cCt>cAt	p.P121H		NM_001252226.1|NM_006622.3	NP_001239155.1|NP_006613.2	Q9NYY3	PLK2_HUMAN	polo-like kinase 2	121	Protein kinase.				positive regulation of I-kappaB kinase/NF-kappaB cascade		ATP binding|protein binding|protein serine/threonine kinase activity|signal transducer activity			endometrium(7)|large_intestine(7)|lung(5)|ovary(3)|prostate(2)|skin(2)	26		all_cancers(5;1.76e-12)|all_epithelial(5;2.09e-13)|all_lung(5;6.64e-05)|Lung NSC(5;0.000127)|Prostate(74;0.055)|Breast(144;0.0602)|Ovarian(174;0.182)		OV - Ovarian serous cystadenocarcinoma(10;7.03e-37)		CCTTTGATGAGGTTTAGCTAC	0.408													5	117					5.9392e-07	6.87481e-07	1	1	0	T	57754828	G	T	57754828	3	4	81	1	0	0	0	0	1	0	0	0	12144	1000	35	4	1747	4	PLK2	5	57754828	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2941	57754828	123160432	4409	8025											
GAPT	202309	broad.mit.edu	37	5	57790694	57790694	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:57790694C>T	ENST00000396776.2	+	3	793	c.331C>T	c.(331-333)Cta>Tta	p.L111L	GAPT_ENST00000318469.2_Silent_p.L111L	NM_152687.2	NP_689900.1	Q8N292	GAPT_HUMAN	GRB2-binding adaptor protein, transmembrane	111					B cell activation	integral to membrane|plasma membrane				NS(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(1)	7						CGATAAGGAACTATATGAAAA	0.418													33	55					0	0	1	0	0	T	57790694	C	T	57790694	2	4	81	1	0	0	0	0	0	0	0	1	6278	564	20	2		2	GAPT	5	57790694	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	35866	57790694	123124566	4410	8026											
PDE4D	5144	broad.mit.edu	37	5	58270808	58270808	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:58270808G>A	ENST00000340635.6	-	15	2288	c.2113C>T	c.(2113-2115)Cgt>Tgt	p.R705C	PDE4D_ENST00000360047.5_Missense_Mutation_p.R569C|PDE4D_ENST00000546160.1_Missense_Mutation_p.R644C|PDE4D_ENST00000405755.2_Missense_Mutation_p.R583C|PDE4D_ENST00000358923.6_Missense_Mutation_p.R403C|PDE4D_ENST00000317118.8_Missense_Mutation_p.R414C|PDE4D_ENST00000503258.1_Missense_Mutation_p.R575C|PDE4D_ENST00000502484.2_Missense_Mutation_p.R644C|PDE4D_ENST00000507116.1_Missense_Mutation_p.R641C	NM_001104631.1	NP_001098101.1	Q08499	PDE4D_HUMAN	phosphodiesterase 4D, cAMP-specific	705					signal transduction	cytosol|insoluble fraction|membrane|microtubule organizing center|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|pancreas(1)	15		all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954)		Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276)	Adenosine monophosphate(DB00131)|Dyphylline(DB00651)	TACCATTCACGATTGTCCTCC	0.537													4	49					0	0	1	0	0	A	58270808	G	A	58270808	3	1	81	1	0	0	0	0	1	0	0	0	11689	1058	37	1	320	1	PDE4D	5	58270808	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	480114	58270808	122644452	4411	8027											
PDE4D	5144	broad.mit.edu	37	5	58271516	58271516	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:58271516C>T	ENST00000340635.6	-	14	2156	c.1981G>A	c.(1981-1983)Gac>Aac	p.D661N	PDE4D_ENST00000360047.5_Missense_Mutation_p.D525N|PDE4D_ENST00000546160.1_Missense_Mutation_p.D600N|PDE4D_ENST00000405755.2_Missense_Mutation_p.D539N|PDE4D_ENST00000358923.6_Missense_Mutation_p.D359N|PDE4D_ENST00000317118.8_Missense_Mutation_p.D370N|PDE4D_ENST00000503258.1_Missense_Mutation_p.D531N|PDE4D_ENST00000502484.2_Missense_Mutation_p.D600N|PDE4D_ENST00000507116.1_Missense_Mutation_p.D597N	NM_001104631.1	NP_001098101.1	Q08499	PDE4D_HUMAN	phosphodiesterase 4D, cAMP-specific	661					signal transduction	cytosol|insoluble fraction|membrane|microtubule organizing center|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|pancreas(1)	15		all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954)		Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276)	Adenosine monophosphate(DB00131)|Dyphylline(DB00651)	TTGTGCTTGTCACACATGGGG	0.493													3	30					0	0	1	0	0	T	58271516	C	T	58271516	3	4	81	1	0	0	0	0	1	0	0	0	11689	826	29	2	456	2	PDE4D	5	58271516	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	708	58271516	122643744	4412	8028											
PDE4D	5144	broad.mit.edu	37	5	59064130	59064130	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:59064130C>A	ENST00000507116.1	-	1	341	c.206G>T	c.(205-207)aGa>aTa	p.R69I	PDE4D_ENST00000340635.6_Intron|PDE4D_ENST00000546160.1_Intron|PDE4D_ENST00000502575.1_Missense_Mutation_p.R69I|PDE4D_ENST00000502484.2_Intron	NM_001197218.1	NP_001184147.1	Q08499	PDE4D_HUMAN	phosphodiesterase 4D, cAMP-specific	0	Pro-rich.				signal transduction	cytosol|insoluble fraction|membrane|microtubule organizing center|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|pancreas(1)	15		all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954)		Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276)	Adenosine monophosphate(DB00131)|Dyphylline(DB00651)	GAGAAGCATTCTGCGCAGAAG	0.537													56	73					1.98717e-13	2.50609e-13	1	1	0	A	59064130	C	A	59064130	3	1	81	1	0	0	0	0	1	0	0	0	11689	928	32	4		4	PDE4D	5	59064130	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	792614	59064130	121851130	4413	8029											
PDE4D	5144	broad.mit.edu	37	5	59064151	59064151	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:59064151T>G	ENST00000507116.1	-	1	320	c.185A>C	c.(184-186)aAt>aCt	p.N62T	PDE4D_ENST00000340635.6_Intron|PDE4D_ENST00000546160.1_Intron|PDE4D_ENST00000502575.1_Missense_Mutation_p.N62T|PDE4D_ENST00000502484.2_Intron	NM_001197218.1	NP_001184147.1	Q08499	PDE4D_HUMAN	phosphodiesterase 4D, cAMP-specific	0	Pro-rich.				signal transduction	cytosol|insoluble fraction|membrane|microtubule organizing center|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|pancreas(1)	15		all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954)		Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276)	Adenosine monophosphate(DB00131)|Dyphylline(DB00651)	CCTGGGGGAATTTCTCGGAGA	0.527													52	66					0	0	1	0	0	G	59064151	T	G	59064151	3	3	81	1	0	0	0	0	1	0	0	0	11689	1508	52	4		4	PDE4D	5	59064151	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	21	59064151	121851109	4414	8030											
DEPDC1B	55789	broad.mit.edu	37	5	59893604	59893604	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:59893604T>A	ENST00000265036.5	-	11	1633	c.1566A>T	c.(1564-1566)caA>caT	p.Q522H	DEPDC1B_ENST00000453022.2_Missense_Mutation_p.Q460H|DEPDC1B_ENST00000545085.1_Missense_Mutation_p.Q433H	NM_018369.2	NP_060839.2	Q8WUY9	DEP1B_HUMAN	DEP domain containing 1B	522					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(2)|skin(2)	17		Lung NSC(810;0.000214)|Prostate(74;0.0147)|Breast(144;0.0991)|Ovarian(174;0.17)				TTCTAGTTCTTTGAAATGGTT	0.418													8	143					0	0	1	0	0	A	59893604	T	A	59893604	3	1	81	1	0	0	0	0	1	0	0	0	4468	1838	64	5	27	5	DEPDC1B	5	59893604	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	829453	59893604	121021656	4415	8031											
ELOVL7	79993	broad.mit.edu	37	5	60053414	60053414	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:60053414G>T	ENST00000505959.1	-	10	1045	c.519C>A	c.(517-519)tcC>tcA	p.S173S	ELOVL7_ENST00000425382.1_Silent_p.S186S|ELOVL7_ENST00000438340.1_Silent_p.S186S|ELOVL7_ENST00000508821.1_Silent_p.S186S			A1L3X0	ELOV7_HUMAN	ELOVL fatty acid elongase 7	186					fatty acid elongation, polyunsaturated fatty acid|fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	fatty acid elongase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(1)	9		Lung NSC(810;2.56e-06)|Prostate(74;0.0115)|Breast(144;0.0244)|Ovarian(174;0.0481)				GTCCATAGTAGGAATACATGA	0.373													6	65					0.00307968	0.00324365	1	1	0	T	60053414	G	T	60053414	2	4	81	1	0	0	0	0	0	0	0	1	5107	987	35	4		4	ELOVL7	5	60053414	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	159810	60053414	120861846	4416	8032											
HTR1A	3350	broad.mit.edu	37	5	63256975	63256975	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:63256975T>G	ENST00000323865.3	-	1	805	c.572A>C	c.(571-573)aAg>aCg	p.K191T	RP11-158J3.2_ENST00000502882.1_RNA	NM_000524.3	NP_000515.2	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	191					behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity			cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	GCCATGATCCTTGCTAATGGT	0.572													14	196					0	0	1	0	0	G	63256975	T	G	63256975	3	3	81	1	0	0	0	0	1	0	0	0	7480	1609	56	5	699	5	HTR1A	5	63256975	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	3203561	63256975	117658285	4417	8033											
ADAMTS6	11174	broad.mit.edu	37	5	64748588	64748588	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:64748588C>A	ENST00000536360.1	-	5	1602	c.789G>T	c.(787-789)gtG>gtT	p.V263V				Q9UKP5	ATS6_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 6	263	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(3)	18		Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235)		Lung(70;0.00942)		CATGGTAGCCCACCATCATTT	0.383													31	55					3.80469e-20	4.96336e-20	1	1	0	A	64748588	C	A	64748588	2	1	81	1	0	0	0	0	0	0	0	1	269	581	21	5		5	ADAMTS6	5	64748588	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1491613	64748588	116166672	4418	8034											
TRIM23	373	broad.mit.edu	37	5	64887632	64887632	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:64887632C>T	ENST00000231524.9	-	11	2060	c.1689G>A	c.(1687-1689)cgG>cgA	p.R563R	TRIM23_ENST00000274327.7_Intron|TRIM23_ENST00000381018.3_Intron	NM_001656.3	NP_001647.1	P36406	TRI23_HUMAN	tripartite motif containing 23	563	ARF-like.				interspecies interaction between organisms|small GTPase mediated signal transduction	Golgi membrane|lysosomal membrane	enzyme activator activity|GDP binding|GTP binding|GTPase activity|protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	28		Lung NSC(167;3.24e-06)|Prostate(74;0.0138)|Breast(144;0.0433)|Ovarian(174;0.0545)|Colorectal(97;0.234)		Lung(70;0.00473)		CTACAAGTTGCCGTGAGAGCC	0.428													22	38					0	0	1	0	0	T	64887632	C	T	64887632	2	4	81	1	0	0	0	0	0	0	0	1	16558	726	26	2		2	TRIM23	5	64887632	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	139044	64887632	116027628	4419	8035											
ERBB2IP	55914	broad.mit.edu	37	5	65349795	65349795	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:65349795C>A	ENST00000284037.5	+	21	3038	c.2649C>A	c.(2647-2649)atC>atA	p.I883I	ERBB2IP_ENST00000511297.1_Silent_p.I879I|ERBB2IP_ENST00000380936.1_Silent_p.I883I|ERBB2IP_ENST00000380943.2_Silent_p.I883I|ERBB2IP_ENST00000380935.1_Silent_p.I883I|ERBB2IP_ENST00000380938.2_Silent_p.I883I|ERBB2IP_ENST00000416865.2_Intron|ERBB2IP_ENST00000380939.2_Silent_p.I883I|ERBB2IP_ENST00000508515.1_Silent_p.I883I|ERBB2IP_ENST00000506030.1_Silent_p.I883I	NM_001253697.1	NP_001240626.1	Q96RT1	LAP2_HUMAN	erbb2 interacting protein	883					basal protein localization|cell adhesion|cell cycle|cell growth|epidermal growth factor receptor signaling pathway|establishment or maintenance of epithelial cell apical/basal polarity|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization	basement membrane|cytoplasm|hemidesmosome|nucleus	ErbB-2 class receptor binding|integrin binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2)	36		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)		GGCTAAAAATCTATGATATTC	0.403													20	950					1.64113e-05	1.8403e-05	1	1	0	A	65349795	C	A	65349795	2	1	81	1	0	0	0	0	0	0	0	1	5235	903	32	4		4	ERBB2IP	5	65349795	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	462163	65349795	115565465	4420	8036											
MAST4	375449	broad.mit.edu	37	5	66426196	66426196	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:66426196G>T	ENST00000404260.3	+	15	2221	c.1913G>T	c.(1912-1914)tGc>tTc	p.C638F	MAST4_ENST00000405643.1_Missense_Mutation_p.C456F|MAST4_ENST00000261569.7_Missense_Mutation_p.C441F|MAST4_ENST00000403625.2_Missense_Mutation_p.C635F|MAST4_ENST00000403666.1_Missense_Mutation_p.C446F			O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	638	Protein kinase.					cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		AGCATGTATTGCTCCTTTGAA	0.468													10	81					2.68362e-12	3.3506e-12	1	1	0	T	66426196	G	T	66426196	3	4	81	1	0	0	0	0	1	0	0	0	9377	1319	46	5	2092	5	MAST4	5	66426196	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1076401	66426196	114489064	4421	8037											
MAST4	375449	broad.mit.edu	37	5	66430419	66430419	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:66430419C>T	ENST00000404260.3	+	18	2612	c.2304C>T	c.(2302-2304)gaC>gaT	p.D768D	MAST4_ENST00000405643.1_Silent_p.D586D|MAST4_ENST00000261569.7_Silent_p.D571D|MAST4_ENST00000403625.2_Silent_p.D765D|MAST4_ENST00000403666.1_Silent_p.D576D			O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	768	Protein kinase.					cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		AGCCGGTGGACTGGTGGGCCA	0.453													11	95					0	0	1	0	0	T	66430419	C	T	66430419	2	4	81	1	0	0	0	0	0	0	0	1	9377	564	20	2		2	MAST4	5	66430419	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	4223	66430419	114484841	4422	8038											
MAST4	375449	broad.mit.edu	37	5	66459617	66459617	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:66459617T>C	ENST00000404260.3	+	29	4927	c.4619T>C	c.(4618-4620)gTg>gCg	p.V1540A	MAST4_ENST00000405643.1_Missense_Mutation_p.V1358A|MAST4_ENST00000261569.7_Missense_Mutation_p.V1343A|MAST4_ENST00000403625.2_Missense_Mutation_p.V1537A|MAST4_ENST00000403666.1_Missense_Mutation_p.V1348A			O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	1540						cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		GCCAAGGTGGTGGTGAAGAAA	0.572													6	5					0	0	1	0	0	C	66459617	T	C	66459617	3	2	81	1	0	0	0	0	1	0	0	0	9377	1696	59	3	4854	3	MAST4	5	66459617	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	29198	66459617	114455643	4423	8039											
CD180	4064	broad.mit.edu	37	5	66478853	66478853	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:66478853C>T	ENST00000256447.4	-	3	1975	c.1818G>A	c.(1816-1818)acG>acA	p.T606T		NM_005582.2	NP_005573.2	Q99467	CD180_HUMAN	CD180 molecule	606	LRRCT.				inflammatory response|innate immune response	integral to membrane|plasma membrane	receptor activity			cervix(1)|endometrium(2)|kidney(7)|large_intestine(12)|liver(1)|lung(8)|ovary(1)|stomach(2)	34		Lung NSC(167;4.94e-05)|Prostate(74;0.00601)|Ovarian(174;0.0654)|Breast(144;0.198)|Colorectal(97;0.234)		Lung(70;0.0046)		GGTTTGCACACGTGGTCTCCT	0.428													27	54					0	0	1	0	0	T	66478853	C	T	66478853	2	4	81	1	0	0	0	0	0	0	0	1	2994	523	19	1		1	CD180	5	66478853	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	19236	66478853	114436407	4424	8040											
CD180	4064	broad.mit.edu	37	5	66480139	66480139	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:66480139G>T	ENST00000256447.4	-	3	689	c.532C>A	c.(532-534)Ctg>Atg	p.L178M		NM_005582.2	NP_005573.2	Q99467	CD180_HUMAN	CD180 molecule	178					inflammatory response|innate immune response	integral to membrane|plasma membrane	receptor activity			cervix(1)|endometrium(2)|kidney(7)|large_intestine(12)|liver(1)|lung(8)|ovary(1)|stomach(2)	34		Lung NSC(167;4.94e-05)|Prostate(74;0.00601)|Ovarian(174;0.0654)|Breast(144;0.198)|Colorectal(97;0.234)		Lung(70;0.0046)		TGAAAATCCAGTACTTTCAGA	0.418													37	75					5.71845e-15	7.28219e-15	1	1	0	T	66480139	G	T	66480139	3	4	81	1	0	0	0	0	1	0	0	0	2994	1020	36	4	1457	4	CD180	5	66480139	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1286	66480139	114435121	4425	8041											
CD180	4064	broad.mit.edu	37	5	66481846	66481846	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:66481846C>A	ENST00000256447.4	-	2	248		c.e2-1			NM_005582.2	NP_005573.2	Q99467	CD180_HUMAN	CD180 molecule						inflammatory response|innate immune response	integral to membrane|plasma membrane	receptor activity			cervix(1)|endometrium(2)|kidney(7)|large_intestine(12)|liver(1)|lung(8)|ovary(1)|stomach(2)	34		Lung NSC(167;4.94e-05)|Prostate(74;0.00601)|Ovarian(174;0.0654)|Breast(144;0.198)|Colorectal(97;0.234)		Lung(70;0.0046)		TGGCTTCTTTctgatgggaga	0.313													26	43					3.01185e-09	3.62286e-09	1	1	0	A	66481846	C	A	66481846	5	1	81	1	0	0	0	0	0	0	1	0	2994	927	32	4	1903	4	CD180	5	66481846	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1707	66481846	114433414	4426	8042											
PIK3R1	5295	broad.mit.edu	37	5	67592152	67592152	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:67592152C>A	ENST00000521381.1	+	15	2584	c.1968C>A	c.(1966-1968)tgC>tgA	p.C656*	PIK3R1_ENST00000396611.1_Nonsense_Mutation_p.C664*|PIK3R1_ENST00000336483.5_Nonsense_Mutation_p.C386*|PIK3R1_ENST00000320694.8_Nonsense_Mutation_p.C356*|PIK3R1_ENST00000521657.1_Nonsense_Mutation_p.C656*|PIK3R1_ENST00000274335.5_Nonsense_Mutation_p.C656*|PIK3R1_ENST00000523872.1_Nonsense_Mutation_p.C293*	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	656	SH2 2.				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	AACAGGGCTGCTATGCCTGCT	0.438			"Mis, F, O"		"gliobastoma, ovarian, colorectal"					TCGA GBM(4;<1E-08)			7	105					8.12818e-05	8.94031e-05	1	1	0	A	67592152	C	A	67592152	4	1	81	1	0	0	0	0	0	1	0	0	11966	805	28	4	2152	4	PIK3R1	5	67592152	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1110306	67592152	113323108	4427	8043											
SLC30A5	64924	broad.mit.edu	37	5	68408995	68408995	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:68408995C>A	ENST00000396591.3	+	6	1086	c.476C>A	c.(475-477)gCt>gAt	p.A159D	CTC-498J12.3_ENST00000504129.1_RNA	NM_022902.4	NP_075053.2	Q8TAD4	ZNT5_HUMAN	solute carrier family 30 (zinc transporter), member 5	159					cellular zinc ion homeostasis|cobalt ion transport|regulation of proton transport|response to zinc ion	apical plasma membrane|Golgi apparatus|integral to plasma membrane|membrane fraction|secretory granule membrane	zinc ion binding|zinc ion transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Lung NSC(167;0.000986)|Prostate(74;0.00809)|Colorectal(97;0.0508)|Ovarian(174;0.16)		OV - Ovarian serous cystadenocarcinoma(47;1.24e-56)|Epithelial(20;1.12e-52)|all cancers(19;2.63e-48)|Lung(70;0.0177)		TTCATTATTGCTGTGATCTGT	0.348													11	39					1.08611e-07	1.27405e-07	1	1	0	A	68408995	C	A	68408995	3	1	81	1	0	0	0	0	1	0	0	0	14613	797	28	4	586	4	SLC30A5	5	68408995	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	816843	68408995	112506265	4428	8044											
SLC30A5	64924	broad.mit.edu	37	5	68412312	68412312	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:68412312G>T	ENST00000396591.3	+	10	1774	c.1164G>T	c.(1162-1164)atG>atT	p.M388I	CTC-498J12.3_ENST00000504129.1_RNA	NM_022902.4	NP_075053.2	Q8TAD4	ZNT5_HUMAN	solute carrier family 30 (zinc transporter), member 5	388					cellular zinc ion homeostasis|cobalt ion transport|regulation of proton transport|response to zinc ion	apical plasma membrane|Golgi apparatus|integral to plasma membrane|membrane fraction|secretory granule membrane	zinc ion binding|zinc ion transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Lung NSC(167;0.000986)|Prostate(74;0.00809)|Colorectal(97;0.0508)|Ovarian(174;0.16)		OV - Ovarian serous cystadenocarcinoma(47;1.24e-56)|Epithelial(20;1.12e-52)|all cancers(19;2.63e-48)|Lung(70;0.0177)		ATAACTTCATGGGTGATGCTT	0.388													10	72					4.68919e-08	5.54405e-08	1	1	0	T	68412312	G	T	68412312	3	4	81	1	0	0	0	0	1	0	0	0	14613	1348	47	5	1290	5	SLC30A5	5	68412312	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	3317	68412312	112502948	4429	8045											
SLC30A5	64924	broad.mit.edu	37	5	68417568	68417568	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:68417568C>A	ENST00000396591.3	+	13	2227	c.1617C>A	c.(1615-1617)gcC>gcA	p.A539A	CTC-498J12.3_ENST00000504129.1_RNA	NM_022902.4	NP_075053.2	Q8TAD4	ZNT5_HUMAN	solute carrier family 30 (zinc transporter), member 5	539					cellular zinc ion homeostasis|cobalt ion transport|regulation of proton transport|response to zinc ion	apical plasma membrane|Golgi apparatus|integral to plasma membrane|membrane fraction|secretory granule membrane	zinc ion binding|zinc ion transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Lung NSC(167;0.000986)|Prostate(74;0.00809)|Colorectal(97;0.0508)|Ovarian(174;0.16)		OV - Ovarian serous cystadenocarcinoma(47;1.24e-56)|Epithelial(20;1.12e-52)|all cancers(19;2.63e-48)|Lung(70;0.0177)		GTATCTGTGCCTTtagccatg	0.428													3	18					6.4e-05	7.07494e-05	1	1	0	A	68417568	C	A	68417568	2	1	81	1	0	0	0	0	0	0	0	1	14613	668	24	4		4	SLC30A5	5	68417568	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	5256	68417568	112497692	4430	8046											
CENPH	64946	broad.mit.edu	37	5	68490518	68490518	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:68490518G>A	ENST00000283006.2	+	3	322	c.235G>A	c.(235-237)Gaa>Aaa	p.E79K	CENPH_ENST00000515001.1_Missense_Mutation_p.E79K	NM_022909.3	NP_075060.1	Q9H3R5	CENPH_HUMAN	centromere protein H	79					cell division|CenH3-containing nucleosome assembly at centromere|chromosome segregation|kinetochore organization|mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleoplasm	kinetochore binding|protein binding			kidney(15)|large_intestine(2)|lung(3)	20		Lung NSC(167;5.51e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.41e-56)|Epithelial(20;1.29e-52)|all cancers(19;3.15e-48)|Lung(70;0.0178)		AAAGCAAATCGAAGCGTATGT	0.279													16	23					0	0	1	0	0	A	68490518	G	A	68490518	3	1	81	1	0	0	0	0	1	0	0	0	3254	1059	37	1	245	1	CENPH	5	68490518	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	72950	68490518	112424742	4431	8047											
CDK7	1022	broad.mit.edu	37	5	68550442	68550442	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:68550442C>T	ENST00000256443.3	+	4	277	c.174C>T	c.(172-174)acC>acT	p.T58T	CDK7_ENST00000513629.1_3'UTR|CDK7_ENST00000502604.1_5'UTR|CDK7_ENST00000514676.1_Silent_p.T58T	NM_001799.3	NP_001790.1	P50613	CDK7_HUMAN	cyclin-dependent kinase 7	58	Protein kinase.				androgen receptor signaling pathway|cell division|cell proliferation|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|regulation of cyclin-dependent protein kinase activity|S phase of mitotic cell cycle|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex|mitochondrion	androgen receptor binding|ATP binding|cyclin-dependent protein kinase activity|DNA-dependent ATPase activity|protein C-terminus binding|RNA polymerase II carboxy-terminal domain kinase activity|transcription coactivator activity			endometrium(1)|lung(2)	3		Lung NSC(167;7.26e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;2.98e-56)|Epithelial(20;3.54e-52)|all cancers(19;9.11e-48)|Lung(70;0.0185)		TAAATAGAACCGCCTTAAGAG	0.308								Nucleotide excision repair (NER)					13	48					0	0	1	0	0	T	68550442	C	T	68550442	2	4	81	1	0	0	0	0	0	0	0	1	3171	639	23	1		1	CDK7	5	68550442	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	59924	68550442	112364818	4432	8048											
CCDC125	202243	broad.mit.edu	37	5	68616261	68616261	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:68616261G>T	ENST00000396496.2	-	2	214	c.107C>A	c.(106-108)cCt>cAt	p.P36H	CCDC125_ENST00000396499.1_Missense_Mutation_p.P36H|CCDC125_ENST00000511257.1_Intron|CCDC125_ENST00000383374.2_Missense_Mutation_p.P36H|CCDC125_ENST00000460090.1_Intron			Q86Z20	CC125_HUMAN	coiled-coil domain containing 125	36						cytoplasm				breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(7)|urinary_tract(1)	19		Lung NSC(167;7.26e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;2.2e-56)|Epithelial(20;2.31e-52)|all cancers(19;5.85e-48)|Lung(70;0.0183)		AATCCCACCAGGTTTCCTTCC	0.438													9	105					3.86212e-05	4.27865e-05	1	1	0	T	68616261	G	T	68616261	3	4	81	1	0	0	0	0	1	0	0	0	2779	1000	35	4	1472	4	CCDC125	5	68616261	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	65819	68616261	112298999	4433	8049											
TAF9	6880	broad.mit.edu	37	5	68647899	68647899	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:68647899G>T	ENST00000380822.4	-	5	559	c.508C>A	c.(508-510)Cat>Aat	p.H170N	TAF9_ENST00000512561.1_Missense_Mutation_p.H139N|TAF9_ENST00000502819.1_5'UTR|TAF9_ENST00000380818.3_Missense_Mutation_p.H167N	NM_016283.4	NP_057367.1	Q9Y3D8	KAD6_HUMAN	TAF9 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 32kDa	170						Cajal body	adenylate kinase activity|ATP binding|protein binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|urinary_tract(1)	8		Lung NSC(167;7.26e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.1e-56)|Epithelial(20;9.54e-53)|all cancers(19;2.2e-48)|Lung(70;0.0176)		CAAGAGTTATGATCTTTGATC	0.358													8	41					0.0381472	0.0389402	1	1	0	T	68647899	G	T	68647899	3	4	81	1	0	0	0	0	1	0	0	0	15592	1290	45	5	14	5	TAF9	5	68647899	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	31638	68647899	112267361	4434	8050											
TAF9	6880	broad.mit.edu	37	5	68648055	68648055	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:68648055C>A	ENST00000380822.4	-	5	403	c.352G>T	c.(352-354)Gac>Tac	p.D118Y	TAF9_ENST00000512561.1_Missense_Mutation_p.D87Y|TAF9_ENST00000502819.1_5'UTR|TAF9_ENST00000380818.3_Missense_Mutation_p.D115Y	NM_016283.4	NP_057367.1	Q9Y3D8	KAD6_HUMAN	TAF9 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 32kDa	118						Cajal body	adenylate kinase activity|ATP binding|protein binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|urinary_tract(1)	8		Lung NSC(167;7.26e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.1e-56)|Epithelial(20;9.54e-53)|all cancers(19;2.2e-48)|Lung(70;0.0176)		TGAATATTGTCTGTTAGTTTC	0.383													4	46					1.23904e-05	1.39156e-05	1	1	0	A	68648055	C	A	68648055	3	1	81	1	0	0	0	0	1	0	0	0	15592	913	32	4	170	4	TAF9	5	68648055	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	156	68648055	112267205	4435	8051											
RAD17	5884	broad.mit.edu	37	5	68687668	68687668	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:68687668C>T	ENST00000509734.1	+	12	1728	c.1050C>T	c.(1048-1050)aaC>aaT	p.N350N	RAD17_ENST00000354312.3_Silent_p.N339N|RAD17_ENST00000358030.2_Silent_p.N174N|RAD17_ENST00000521422.1_Silent_p.N174N|RAD17_ENST00000282891.6_Silent_p.N253N|RAD17_ENST00000305138.4_Silent_p.N339N|RAD17_ENST00000361732.2_Silent_p.N339N|RAD17_ENST00000380774.3_Silent_p.N350N|RAD17_ENST00000504177.1_Intron|RAD17_ENST00000345306.6_Silent_p.N339N|RAD17_ENST00000354868.5_Silent_p.N339N			O75943	RAD17_HUMAN	RAD17 homolog (S. pombe)	350					cell cycle|DNA damage checkpoint|DNA repair|DNA replication|DNA replication checkpoint|mitotic cell cycle checkpoint|negative regulation of DNA replication|regulation of phosphorylation	nucleoplasm	ATP binding|nucleoside-triphosphatase activity|protein binding						Lung NSC(167;5.19e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;9.36e-57)|Epithelial(20;1.21e-52)|all cancers(19;3.34e-48)|Lung(70;0.0183)		GAGAAAACAACTTACGGCCAA	0.289								Other conserved DNA damage response genes					10	71					0	0	1	0	0	T	68687668	C	T	68687668	2	4	81	1	0	0	0	0	0	0	0	1	13031	564	20	2		2	RAD17	5	68687668	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	39613	68687668	112227592	4436	8052											
RAD17	5884	broad.mit.edu	37	5	68695879	68695879	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:68695879C>T	ENST00000509734.1	+	16	2287	c.1609C>T	c.(1609-1611)Cgg>Tgg	p.R537W	RAD17_ENST00000354312.3_Missense_Mutation_p.R526W|RAD17_ENST00000358030.2_Missense_Mutation_p.R361W|RAD17_ENST00000521422.1_Missense_Mutation_p.R361W|RAD17_ENST00000282891.6_Missense_Mutation_p.R440W|RAD17_ENST00000305138.4_Missense_Mutation_p.R526W|RAD17_ENST00000361732.2_Missense_Mutation_p.R526W|RAD17_ENST00000380774.3_Missense_Mutation_p.R537W|RAD17_ENST00000504177.1_Intron|RAD17_ENST00000345306.6_Missense_Mutation_p.R526W|RAD17_ENST00000354868.5_Missense_Mutation_p.R526W			O75943	RAD17_HUMAN	RAD17 homolog (S. pombe)	537	Interaction with MCM7.				cell cycle|DNA damage checkpoint|DNA repair|DNA replication|DNA replication checkpoint|mitotic cell cycle checkpoint|negative regulation of DNA replication|regulation of phosphorylation	nucleoplasm	ATP binding|nucleoside-triphosphatase activity|protein binding						Lung NSC(167;5.19e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;9.36e-57)|Epithelial(20;1.21e-52)|all cancers(19;3.34e-48)|Lung(70;0.0183)		TATACAGTATCGGGAAAATTG	0.328								Other conserved DNA damage response genes					13	27					0	0	1	0	0	T	68695879	C	T	68695879	3	4	81	1	0	0	0	0	1	0	0	0	13031	875	31	1	1676	1	RAD17	5	68695879	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	8211	68695879	112219381	4437	8053											
MARVELD2	153562	broad.mit.edu	37	5	68715327	68715327	+	Missense_Mutation	SNP	C	C	T	rs145027254		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:68715327C>T	ENST00000325631.5	+	2	189	c.115C>T	c.(115-117)Cgg>Tgg	p.R39W	MARVELD2_ENST00000413223.2_Missense_Mutation_p.R39W	NM_001038603.2|NM_001244734.1	NP_001033692.2|NP_001231663.1	Q8N4S9	MALD2_HUMAN	MARVEL domain containing 2	39					sensory perception of sound	integral to membrane|tight junction				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(4)|skin(1)|urinary_tract(1)	15		Lung NSC(167;0.000937)|Prostate(74;0.0187)|Ovarian(174;0.16)		OV - Ovarian serous cystadenocarcinoma(47;7.31e-57)|Epithelial(20;1.05e-52)|all cancers(19;2.63e-48)|Lung(70;0.0183)		TGACAGTGAGCGGGCAGTGAG	0.552													14	21					0	0	1	0	0	T	68715327	C	T	68715327	3	4	81	1	0	0	0	0	1	0	0	0	9368	759	27	1	117	1	MARVELD2	5	68715327	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	19448	68715327	112199933	4438	8054											
MARVELD2	153562	broad.mit.edu	37	5	68715761	68715761	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:68715761C>A	ENST00000325631.5	+	2	623	c.549C>A	c.(547-549)taC>taA	p.Y183*	MARVELD2_ENST00000413223.2_Nonsense_Mutation_p.Y183*	NM_001038603.2|NM_001244734.1	NP_001033692.2|NP_001231663.1	Q8N4S9	MALD2_HUMAN	MARVEL domain containing 2	183					sensory perception of sound	integral to membrane|tight junction				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(4)|skin(1)|urinary_tract(1)	15		Lung NSC(167;0.000937)|Prostate(74;0.0187)|Ovarian(174;0.16)		OV - Ovarian serous cystadenocarcinoma(47;7.31e-57)|Epithelial(20;1.05e-52)|all cancers(19;2.63e-48)|Lung(70;0.0183)		ACCTGAGATACTCCTACATGA	0.517													22	55					3.73194e-20	4.8702e-20	1	1	0	A	68715761	C	A	68715761	4	1	81	1	0	0	0	0	0	1	0	0	9368	576	20	4	551	4	MARVELD2	5	68715761	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	434	68715761	112199499	4439	8055											
MARVELD2	153562	broad.mit.edu	37	5	68715841	68715841	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:68715841G>C	ENST00000325631.5	+	2	703	c.629G>C	c.(628-630)tGt>tCt	p.C210S	MARVELD2_ENST00000413223.2_Missense_Mutation_p.C210S	NM_001038603.2|NM_001244734.1	NP_001033692.2|NP_001231663.1	Q8N4S9	MALD2_HUMAN	MARVEL domain containing 2	210	MARVEL.				sensory perception of sound	integral to membrane|tight junction				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(4)|skin(1)|urinary_tract(1)	15		Lung NSC(167;0.000937)|Prostate(74;0.0187)|Ovarian(174;0.16)		OV - Ovarian serous cystadenocarcinoma(47;7.31e-57)|Epithelial(20;1.05e-52)|all cancers(19;2.63e-48)|Lung(70;0.0183)		GTCTTTGCTTGTGTCACAGCT	0.502													10	108					0	0	1	0	0	C	68715841	G	C	68715841	3	2	81	1	0	0	0	0	1	0	0	0	9368	1377	48	5	631	5	MARVELD2	5	68715841	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	80	68715841	112199419	4440	8056											
MARVELD2	153562	broad.mit.edu	37	5	68716065	68716065	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:68716065G>A	ENST00000325631.5	+	2	927	c.853G>A	c.(853-855)Gac>Aac	p.D285N	MARVELD2_ENST00000413223.2_Intron	NM_001038603.2|NM_001244734.1	NP_001033692.2|NP_001231663.1	Q8N4S9	MALD2_HUMAN	MARVEL domain containing 2	285	MARVEL.				sensory perception of sound	integral to membrane|tight junction				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(4)|skin(1)|urinary_tract(1)	15		Lung NSC(167;0.000937)|Prostate(74;0.0187)|Ovarian(174;0.16)		OV - Ovarian serous cystadenocarcinoma(47;7.31e-57)|Epithelial(20;1.05e-52)|all cancers(19;2.63e-48)|Lung(70;0.0183)		CATTCTTCTGGACTCTAATTG	0.433													43	52					0	0	1	0	0	A	68716065	G	A	68716065	3	1	81	1	0	0	0	0	1	0	0	0	9368	1174	41	2	855	2	MARVELD2	5	68716065	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	224	68716065	112199195	4441	8057											
MARVELD2	153562	broad.mit.edu	37	5	68728780	68728780	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:68728780C>T	ENST00000325631.5	+	5	1437	c.1363C>T	c.(1363-1365)Cga>Tga	p.R455*	MARVELD2_ENST00000413223.2_Nonsense_Mutation_p.R339*	NM_001038603.2|NM_001244734.1	NP_001033692.2|NP_001231663.1	Q8N4S9	MALD2_HUMAN	MARVEL domain containing 2	455					sensory perception of sound	integral to membrane|tight junction				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(4)|skin(1)|urinary_tract(1)	15		Lung NSC(167;0.000937)|Prostate(74;0.0187)|Ovarian(174;0.16)		OV - Ovarian serous cystadenocarcinoma(47;7.31e-57)|Epithelial(20;1.05e-52)|all cancers(19;2.63e-48)|Lung(70;0.0183)		AGATGATGAGCGAGAACGCTA	0.413													38	57					0	0	1	0	0	T	68728780	C	T	68728780	4	4	81	1	0	0	0	0	0	1	0	0	9368	760	27	1	1377	1	MARVELD2	5	68728780	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	12715	68728780	112186480	4442	8058											
OCLN	100506658	broad.mit.edu	37	5	68805040	68805040	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:68805040G>A	ENST00000355237.2	+	3	559	c.123G>A	c.(121-123)caG>caA	p.Q41Q	OCLN_ENST00000396442.2_Silent_p.Q41Q|OCLN_ENST00000542132.1_Intron|OCLN_ENST00000538151.1_Intron|OCLN_ENST00000380766.2_Silent_p.Q41Q	NM_002538.3	NP_002529.1	Q16625	OCLN_HUMAN	occludin	41					cellular component disassembly involved in apoptosis|protein complex assembly	integral to membrane|tight junction	protein binding|structural molecule activity			endometrium(2)|large_intestine(1)|liver(1)|prostate(1)|skin(1)	6		Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174)		TGCTCTCTCAGCCAGCCTACT	0.408													37	72					0	0	1	0	0	A	68805040	G	A	68805040	2	1	81	1	0	0	0	0	0	0	0	1	10868	962	34	2		2	OCLN	5	68805040	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	76260	68805040	112110220	4443	8059											
OCLN	100506658	broad.mit.edu	37	5	68805114	68805114	+	Missense_Mutation	SNP	G	G	A	rs116363086	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:68805114G>A	ENST00000355237.2	+	3	633	c.197G>A	c.(196-198)cGg>cAg	p.R66Q	OCLN_ENST00000396442.2_Missense_Mutation_p.R66Q|OCLN_ENST00000542132.1_Intron|OCLN_ENST00000538151.1_Intron|OCLN_ENST00000380766.2_Missense_Mutation_p.R66Q	NM_002538.3	NP_002529.1	Q16625	OCLN_HUMAN	occludin	66	MARVEL.				cellular component disassembly involved in apoptosis|protein complex assembly	integral to membrane|tight junction	protein binding|structural molecule activity			endometrium(2)|large_intestine(1)|liver(1)|prostate(1)|skin(1)	6		Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174)		GGAGTGATTCGGATCCTGTCT	0.478													62	91					0	0	1	0	0	A	68805114	G	A	68805114	3	1	81	1	0	0	0	0	1	0	0	0	10868	1116	39	1	203	1	OCLN	5	68805114	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	74	68805114	112110146	4444	8060											
BDP1	55814	broad.mit.edu	37	5	70791221	70791221	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:70791221delA	ENST00000358731.4	+	12	2048	c.1785delA	c.(1783-1785)ctafs	p.L595fs	BDP1_ENST00000380675.2_5'UTR	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	595					regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		ATGTTGACCTAAAAAATAATT	0.303													39	76	---	---	---	---						-	70791221	A	-	70791221	7	5	81	1	0	1	0	1	0	0	0	0	1393	349	13	0	1831	0	BDP1	5	70791221	Frame_Shift_Del	DEL	A	TCGA-DU-6392-01A-11D-1705-08	1986107	70791221	110124039	4445	8061											
BDP1	55814	broad.mit.edu	37	5	70798476	70798476	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:70798476G>T	ENST00000358731.4	+	15	2362	c.2099G>T	c.(2098-2100)aGa>aTa	p.R700I	BDP1_ENST00000380675.2_5'UTR	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	700					regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		AAGGCTTTAAGACCTGTACAA	0.383													11	20					9.05144e-12	1.12483e-11	1	1	0	T	70798476	G	T	70798476	3	4	81	1	0	0	0	0	1	0	0	0	1393	942	33	4	2157	4	BDP1	5	70798476	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	7255	70798476	110116784	4446	8062											
BDP1	55814	broad.mit.edu	37	5	70837939	70837939	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:70837939A>C	ENST00000358731.4	+	30	6522	c.6259A>C	c.(6259-6261)Att>Ctt	p.I2087L	BDP1_ENST00000380675.2_Missense_Mutation_p.I223L	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	2087					regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		TAGGAATACAATTTCTAAAGT	0.358													9	17					0	0	1	0	0	C	70837939	A	C	70837939	3	2	81	1	0	0	0	0	1	0	0	0	1393	101	4	4	6377	4	BDP1	5	70837939	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	39463	70837939	110077321	4447	8063											
MCCC2	64087	broad.mit.edu	37	5	70900290	70900290	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:70900290G>A	ENST00000340941.6	+	6	748	c.619G>A	c.(619-621)Gca>Aca	p.A207T	MCCC2_ENST00000509358.2_Missense_Mutation_p.A207T|MCCC2_ENST00000510895.2_3'UTR|MCCC2_ENST00000323375.8_Missense_Mutation_p.A207T	NM_022132.4	NP_071415.1	Q9HCC0	MCCB_HUMAN	methylcrotonoyl-CoA carboxylase 2 (beta)	207	Carboxyltransferase.				leucine catabolic process	mitochondrial inner membrane|mitochondrial matrix	ATP binding|methylcrotonoyl-CoA carboxylase activity			endometrium(2)|kidney(15)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1)	30		Lung NSC(167;0.000697)|Prostate(74;0.0107)|Ovarian(174;0.0175)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;2.04e-54)	Biotin(DB00121)	TAAAAATATTGCACAGGTAAT	0.378													17	28					0	0	1	0	0	A	70900290	G	A	70900290	3	1	81	1	0	0	0	0	1	0	0	0	9425	1319	46	2	641	2	MCCC2	5	70900290	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	62351	70900290	110014970	4448	8064											
MCCC2	64087	broad.mit.edu	37	5	70922494	70922494	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:70922494G>A	ENST00000340941.6	+	7	781	c.652G>A	c.(652-654)Gca>Aca	p.A218T	MCCC2_ENST00000509358.2_Missense_Mutation_p.A218T|MCCC2_ENST00000510895.2_3'UTR|MCCC2_ENST00000323375.8_Intron	NM_022132.4	NP_071415.1	Q9HCC0	MCCB_HUMAN	methylcrotonoyl-CoA carboxylase 2 (beta)	218	Carboxyltransferase.		A -> T (in MCC2 deficiency).		leucine catabolic process	mitochondrial inner membrane|mitochondrial matrix	ATP binding|methylcrotonoyl-CoA carboxylase activity			endometrium(2)|kidney(15)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1)	30		Lung NSC(167;0.000697)|Prostate(74;0.0107)|Ovarian(174;0.0175)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;2.04e-54)	Biotin(DB00121)	CTCCTGCACCGCAGGAGGAGC	0.498													22	29					0	0	1	0	0	A	70922494	G	A	70922494	3	1	81	1	0	0	0	0	1	0	0	0	9425	1087	38	1	678	1	MCCC2	5	70922494	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	22204	70922494	109992766	4449	8065											
MCCC2	64087	broad.mit.edu	37	5	70945895	70945895	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:70945895G>T	ENST00000340941.6	+	15	1502		c.e15-1		MCCC2_ENST00000323375.8_Splice_Site	NM_022132.4	NP_071415.1	Q9HCC0	MCCB_HUMAN	methylcrotonoyl-CoA carboxylase 2 (beta)						leucine catabolic process	mitochondrial inner membrane|mitochondrial matrix	ATP binding|methylcrotonoyl-CoA carboxylase activity			endometrium(2)|kidney(15)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1)	30		Lung NSC(167;0.000697)|Prostate(74;0.0107)|Ovarian(174;0.0175)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;2.04e-54)	Biotin(DB00121)	TCTTCCCCCAGCCCAAGATTT	0.433													14	22					0.000151284	0.000165917	1	1	0	T	70945895	G	T	70945895	5	4	81	1	0	0	0	0	0	0	1	0	9425	985	34	4	1431	4	MCCC2	5	70945895	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	23401	70945895	109969365	4450	8066											
MAP1B	4131	broad.mit.edu	37	5	71482482	71482482	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:71482482C>T	ENST00000296755.7	+	4	709	c.411C>T	c.(409-411)ctC>ctT	p.L137L		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	137						microtubule|microtubule associated complex	structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		ACAAGCTGCTCGTGCTGACCG	0.527													40	61					0	0	1	0	0	T	71482482	C	T	71482482	2	4	81	1	0	0	0	0	0	0	0	1	9278	871	31	1		1	MAP1B	5	71482482	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	536587	71482482	109432778	4451	8067											
MAP1B	4131	broad.mit.edu	37	5	71490623	71490623	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:71490623G>A	ENST00000296755.7	+	5	1739	c.1441G>A	c.(1441-1443)Gcg>Acg	p.A481T		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	481						microtubule|microtubule associated complex	structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		AGCAAACCCTGCGGAGAAAAT	0.463													9	83					0	0	1	0	0	A	71490623	G	A	71490623	3	1	81	1	0	0	0	0	1	0	0	0	9278	1319	46	2	1459	2	MAP1B	5	71490623	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	8141	71490623	109424637	4452	8068											
MAP1B	4131	broad.mit.edu	37	5	71491726	71491726	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:71491726C>T	ENST00000296755.7	+	5	2842	c.2544C>T	c.(2542-2544)gtC>gtT	p.V848V		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	848						microtubule|microtubule associated complex	structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		CTGAAGAGGTCGATGTAACAA	0.488													49	78					0	0	1	0	0	T	71491726	C	T	71491726	2	4	81	1	0	0	0	0	0	0	0	1	9278	871	31	1		1	MAP1B	5	71491726	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1103	71491726	109423534	4453	8069											
MAP1B	4131	broad.mit.edu	37	5	71492953	71492953	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:71492953G>A	ENST00000296755.7	+	5	4069	c.3771G>A	c.(3769-3771)ccG>ccA	p.P1257P		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1257						microtubule|microtubule associated complex	structural molecule activity	p.P1257P(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		CGAAGAGCCCGTCCCTGAGTC	0.498													22	34					0	0	1	0	0	A	71492953	G	A	71492953	2	1	81	1	0	0	0	0	0	0	0	1	9278	1132	40	1		1	MAP1B	5	71492953	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1227	71492953	109422307	4454	8070											
MAP1B	4131	broad.mit.edu	37	5	71494288	71494288	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:71494288G>T	ENST00000296755.7	+	5	5404	c.5106G>T	c.(5104-5106)aaG>aaT	p.K1702N		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1702						microtubule|microtubule associated complex	structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		TATCACATAAGATACCACCTA	0.507													19	44					6.49762e-13	8.15126e-13	1	1	0	T	71494288	G	T	71494288	3	4	81	1	0	0	0	0	1	0	0	0	9278	933	33	4	5124	4	MAP1B	5	71494288	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1335	71494288	109420972	4455	8071											
MAP1B	4131	broad.mit.edu	37	5	71495246	71495246	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:71495246G>T	ENST00000296755.7	+	5	6362	c.6064G>T	c.(6064-6066)Ggt>Tgt	p.G2022C		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	2022						microtubule|microtubule associated complex	structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		TGAGTCTGAAGGTTATTCCTA	0.463													10	139					4.68919e-08	5.54405e-08	1	1	0	T	71495246	G	T	71495246	3	4	81	1	0	0	0	0	1	0	0	0	9278	1000	35	4	6082	4	MAP1B	5	71495246	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	958	71495246	109420014	4456	8072											
MAP1B	4131	broad.mit.edu	37	5	71496185	71496185	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:71496185G>A	ENST00000296755.7	+	5	7301	c.7003G>A	c.(7003-7005)Gcc>Acc	p.A2335T		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	2335						microtubule|microtubule associated complex	structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		GGCCAAGACCGCCACTGCAGG	0.507													6	65					0	0	1	0	0	A	71496185	G	A	71496185	3	1	81	1	0	0	0	0	1	0	0	0	9278	1087	38	1	7021	1	MAP1B	5	71496185	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	939	71496185	109419075	4457	8073											
MRPS27	23107	broad.mit.edu	37	5	71516782	71516782	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:71516782G>A	ENST00000261413.5	-	11	1238	c.1199C>T	c.(1198-1200)gCg>gTg	p.A400V	MRPS27_ENST00000513900.1_Missense_Mutation_p.A414V|MRPS27_ENST00000457646.4_Missense_Mutation_p.A344V	NM_015084.2	NP_055899.2	Q92552	RT27_HUMAN	mitochondrial ribosomal protein S27	400						mitochondrion|ribosome				breast(1)|endometrium(1)|large_intestine(2)|lung(2)	6		Lung NSC(167;0.00237)|Ovarian(174;0.0175)|Prostate(461;0.141)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.46e-53)		CTCCTGCTTCGCTTGCTCCCT	0.547													47	53					0	0	1	0	0	A	71516782	G	A	71516782	3	1	81	1	0	0	0	0	1	0	0	0	9887	1087	38	1	49	1	MRPS27	5	71516782	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	20597	71516782	109398478	4458	8074											
MRPS27	23107	broad.mit.edu	37	5	71528293	71528293	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:71528293G>T	ENST00000261413.5	-	7	607	c.568C>A	c.(568-570)Ctg>Atg	p.L190M	MRPS27_ENST00000515404.1_Missense_Mutation_p.L134M|MRPS27_ENST00000522562.1_5'UTR|MRPS27_ENST00000513900.1_Missense_Mutation_p.L204M|MRPS27_ENST00000457646.4_Missense_Mutation_p.L134M	NM_015084.2	NP_055899.2	Q92552	RT27_HUMAN	mitochondrial ribosomal protein S27	190						mitochondrion|ribosome				breast(1)|endometrium(1)|large_intestine(2)|lung(2)	6		Lung NSC(167;0.00237)|Ovarian(174;0.0175)|Prostate(461;0.141)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.46e-53)		TTCTTTGCCAGGCAATGAAAT	0.418													15	35					3.27435e-08	3.88014e-08	1	1	0	T	71528293	G	T	71528293	3	4	81	1	0	0	0	0	1	0	0	0	9887	991	35	4	696	4	MRPS27	5	71528293	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	11511	71528293	109386967	4459	8075											
ZNF366	167465	broad.mit.edu	37	5	71739619	71739619	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:71739619C>T	ENST00000318442.5	-	5	2689	c.2199G>A	c.(2197-2199)agG>agA	p.R733R		NM_152625.1	NP_689838.1	Q8N895	ZN366_HUMAN	zinc finger protein 366	733					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		TTTCCATTTTCCTCTCCAGTA	0.398													8	58					0	0	1	0	0	T	71739619	C	T	71739619	2	4	81	1	0	0	0	0	0	0	0	1	17927	854	30	2		2	ZNF366	5	71739619	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	211326	71739619	109175641	4460	8076											
ZNF366	167465	broad.mit.edu	37	5	71739898	71739898	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:71739898C>A	ENST00000318442.5	-	5	2410	c.1920G>T	c.(1918-1920)caG>caT	p.Q640H		NM_152625.1	NP_689838.1	Q8N895	ZN366_HUMAN	zinc finger protein 366	640					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		TGCAGAGCTGCTGGCTCTGGG	0.652													27	192					1.42536e-11	1.7684e-11	1	1	0	A	71739898	C	A	71739898	3	1	81	1	0	0	0	0	1	0	0	0	17927	796	28	4	318	4	ZNF366	5	71739898	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	279	71739898	109175362	4461	8077											
ZNF366	167465	broad.mit.edu	37	5	71756469	71756469	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:71756469G>T	ENST00000318442.5	-	2	1345	c.855C>A	c.(853-855)caC>caA	p.H285Q		NM_152625.1	NP_689838.1	Q8N895	ZN366_HUMAN	zinc finger protein 366	285					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		GCTTCCCGCAGTGCGTGCACG	0.632													38	64					4.92203e-23	6.47644e-23	1	1	0	T	71756469	G	T	71756469	3	4	81	1	0	0	0	0	1	0	0	0	17927	1020	36	4	1395	4	ZNF366	5	71756469	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	16571	71756469	109158791	4462	8078											
TNPO1	3842	broad.mit.edu	37	5	72171523	72171523	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:72171523C>T	ENST00000337273.5	+	8	1186	c.760C>T	c.(760-762)Cga>Tga	p.R254*	TNPO1_ENST00000506351.2_Nonsense_Mutation_p.R246*|TNPO1_ENST00000523768.1_Nonsense_Mutation_p.R204*|TNPO1_ENST00000447967.2_3'UTR|TNPO1_ENST00000454282.1_Nonsense_Mutation_p.R204*	NM_002270.3	NP_002261.3	Q92973	TNPO1_HUMAN	transportin 1	254					interspecies interaction between organisms|mRNA metabolic process|protein import into nucleus, translocation	cytosol|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(6)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	36		Lung NSC(167;0.0053)|Ovarian(174;0.0175)		OV - Ovarian serous cystadenocarcinoma(47;6.14e-54)		GCTCGAAGTTCGAATGGATCG	0.408													36	51					0	0	1	0	0	T	72171523	C	T	72171523	4	4	81	1	0	0	0	0	0	1	0	0	16395	876	31	1	790	1	TNPO1	5	72171523	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	415054	72171523	108743737	4463	8079											
TNPO1	3842	broad.mit.edu	37	5	72185660	72185660	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:72185660A>G	ENST00000337273.5	+	14	2003	c.1577A>G	c.(1576-1578)tAc>tGc	p.Y526C	TNPO1_ENST00000506351.2_Missense_Mutation_p.Y518C|TNPO1_ENST00000523768.1_Missense_Mutation_p.Y476C|TNPO1_ENST00000454282.1_Missense_Mutation_p.Y476C	NM_002270.3	NP_002261.3	Q92973	TNPO1_HUMAN	transportin 1	526					interspecies interaction between organisms|mRNA metabolic process|protein import into nucleus, translocation	cytosol|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(6)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	36		Lung NSC(167;0.0053)|Ovarian(174;0.0175)		OV - Ovarian serous cystadenocarcinoma(47;6.14e-54)		CTTGTTCCTTACCTTGCTTAT	0.348													41	56					0	0	1	0	0	G	72185660	A	G	72185660	3	3	81	1	0	0	0	0	1	0	0	0	16395	391	14	3	1631	3	TNPO1	5	72185660	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	14137	72185660	108729600	4464	8080											
TNPO1	3842	broad.mit.edu	37	5	72199591	72199591	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:72199591T>C	ENST00000337273.5	+	23	2996	c.2570T>C	c.(2569-2571)cTc>cCc	p.L857P	TNPO1_ENST00000506351.2_Missense_Mutation_p.L849P|TNPO1_ENST00000523768.1_Missense_Mutation_p.L807P|TNPO1_ENST00000454282.1_Missense_Mutation_p.L807P	NM_002270.3	NP_002261.3	Q92973	TNPO1_HUMAN	transportin 1	857					interspecies interaction between organisms|mRNA metabolic process|protein import into nucleus, translocation	cytosol|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(6)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	36		Lung NSC(167;0.0053)|Ovarian(174;0.0175)		OV - Ovarian serous cystadenocarcinoma(47;6.14e-54)		AAAGATGATCTCAGAGACATG	0.299													39	76					0	0	1	0	0	C	72199591	T	C	72199591	3	2	81	1	0	0	0	0	1	0	0	0	16395	1551	54	3	2660	3	TNPO1	5	72199591	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	13931	72199591	108715669	4465	8081											
ANKRA2	57763	broad.mit.edu	37	5	72858427	72858427	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:72858427G>T	ENST00000296785.3	-	2	938	c.280C>A	c.(280-282)Cta>Ata	p.L94I		NM_023039.4	NP_075526.1	Q9H9E1	ANRA2_HUMAN	ankyrin repeat, family A (RFXANK-like), 2	94						cytoskeleton|cytosol|membrane	low-density lipoprotein particle binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	8		Lung NSC(167;0.0378)|Ovarian(174;0.0908)		OV - Ovarian serous cystadenocarcinoma(47;3.71e-54)		CCTTTAAATAGGACAGATGCC	0.323													13	120					4.3838e-07	5.09097e-07	1	1	0	T	72858427	G	T	72858427	3	4	81	1	0	0	0	0	1	0	0	0	632	991	35	4	693	4	ANKRA2	5	72858427	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	658836	72858427	108056833	4466	8082											
ENC1	8507	broad.mit.edu	37	5	73931595	73931595	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:73931595G>A	ENST00000302351.4	-	2	1846	c.716C>T	c.(715-717)gCa>gTa	p.A239V	ENC1_ENST00000537006.1_Missense_Mutation_p.A239V|ENC1_ENST00000510316.1_Missense_Mutation_p.A166V	NM_003633.3	NP_003624.1	O14682	ENC1_HUMAN	ectodermal-neural cortex 1 (with BTB domain)	239					nervous system development	cytoplasm|cytoskeleton|nuclear matrix	actin binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	20		all_lung(232;0.0154)|Lung NSC(167;0.0331)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;1.45e-59)		TGGCAGAAGTGCCAGCCTTAC	0.488													50	5					0	0	1	0	0	A	73931595	G	A	73931595	3	1	81	1	0	0	0	0	1	0	0	0	5141	1319	46	2	1057	2	ENC1	5	73931595	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1073168	73931595	106983665	4467	8083											
ENC1	8507	broad.mit.edu	37	5	73931707	73931707	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:73931707G>T	ENST00000302351.4	-	2	1734	c.604C>A	c.(604-606)Ctg>Atg	p.L202M	ENC1_ENST00000537006.1_Missense_Mutation_p.L202M|ENC1_ENST00000510316.1_Missense_Mutation_p.L129M	NM_003633.3	NP_003624.1	O14682	ENC1_HUMAN	ectodermal-neural cortex 1 (with BTB domain)	202					nervous system development	cytoplasm|cytoskeleton|nuclear matrix	actin binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	20		all_lung(232;0.0154)|Lung NSC(167;0.0331)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;1.45e-59)		TCTGTCTCCAGCTCTTCACTG	0.483													8	109					0.00448238	0.00470627	1	1	0	T	73931707	G	T	73931707	3	4	81	1	0	0	0	0	1	0	0	0	5141	962	34	4	1169	4	ENC1	5	73931707	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	112	73931707	106983553	4468	8084											
ENC1	8507	broad.mit.edu	37	5	73931761	73931761	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:73931761C>A	ENST00000302351.4	-	2	1680	c.550G>T	c.(550-552)Gat>Tat	p.D184Y	ENC1_ENST00000537006.1_Missense_Mutation_p.D184Y|ENC1_ENST00000510316.1_Missense_Mutation_p.D111Y	NM_003633.3	NP_003624.1	O14682	ENC1_HUMAN	ectodermal-neural cortex 1 (with BTB domain)	184					nervous system development	cytoplasm|cytoskeleton|nuclear matrix	actin binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	20		all_lung(232;0.0154)|Lung NSC(167;0.0331)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;1.45e-59)		TGGAGGAAATCTTCATTCTTC	0.498													55	85					6.09941e-20	7.95288e-20	1	1	0	A	73931761	C	A	73931761	3	1	81	1	0	0	0	0	1	0	0	0	5141	913	32	4	1223	4	ENC1	5	73931761	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	54	73931761	106983499	4469	8085											
HEXB	3074	broad.mit.edu	37	5	73985152	73985152	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:73985152G>T	ENST00000511181.1	+	2	536		c.e2-1		HEXB_ENST00000261416.7_Splice_Site			P07686	HEXB_HUMAN	hexosaminidase B (beta polypeptide)						cell death	lysosome	cation binding|protein heterodimerization activity|protein homodimerization activity			endometrium(2)|kidney(3)|large_intestine(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	14		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Breast(144;0.231)		OV - Ovarian serous cystadenocarcinoma(47;1.72e-57)		TTCTCAAACAGATATCATGGC	0.353													5	85					0.014758	0.0152304	1	1	0	T	73985152	G	T	73985152	5	4	81	1	0	0	0	0	0	0	1	0	7115	956	33	4	305	4	HEXB	5	73985152	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	53391	73985152	106930108	4470	8086											
GCNT4	51301	broad.mit.edu	37	5	74324682	74324682	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:74324682C>T	ENST00000322348.4	-	1	2042	c.1181G>A	c.(1180-1182)gGa>gAa	p.G394E		NM_016591.2	NP_057675.1	Q9P109	GCNT4_HUMAN	glucosaminyl (N-acetyl) transferase 4, core 2	394					protein O-linked glycosylation	Golgi membrane|integral to membrane	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|skin(1)|stomach(2)	19		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;8.44e-57)		TTCTGCAGCTCCATAAATACA	0.403													39	44					0	0	1	0	0	T	74324682	C	T	74324682	3	4	81	1	0	0	0	0	1	0	0	0	6343	855	30	2	184	2	GCNT4	5	74324682	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	339530	74324682	106590578	4471	8087											
GCNT4	51301	broad.mit.edu	37	5	74325630	74325630	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:74325630T>G	ENST00000322348.4	-	1	1094	c.233A>C	c.(232-234)gAa>gCa	p.E78A		NM_016591.2	NP_057675.1	Q9P109	GCNT4_HUMAN	glucosaminyl (N-acetyl) transferase 4, core 2	78					protein O-linked glycosylation	Golgi membrane|integral to membrane	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|skin(1)|stomach(2)	19		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;8.44e-57)		AGGCTCCTGTTCATAGATACC	0.413													54	67					0	0	1	0	0	G	74325630	T	G	74325630	3	3	81	1	0	0	0	0	1	0	0	0	6343	1783	62	5	1132	5	GCNT4	5	74325630	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	948	74325630	106589630	4472	8088											
HMGCR	3156	broad.mit.edu	37	5	74650486	74650486	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:74650486C>T	ENST00000287936.4	+	12	1683	c.1527C>T	c.(1525-1527)ctC>ctT	p.L509L	HMGCR_ENST00000511206.1_Silent_p.L509L|HMGCR_ENST00000343975.5_Silent_p.L509L	NM_000859.2	NP_000850.1	P04035	HMDH_HUMAN	3-hydroxy-3-methylglutaryl-CoA reductase	509	Catalytic.				cholesterol biosynthetic process|coenzyme A metabolic process|germ cell migration|gonad development|isoprenoid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|peroxisomal membrane	hydroxymethylglutaryl-CoA reductase (NADPH) activity|NADP binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	20		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)		OV - Ovarian serous cystadenocarcinoma(47;2.24e-54)	Atorvastatin(DB01076)|Bezafibrate(DB01393)|Cerivastatin(DB00439)|Fluvastatin(DB01095)|Lovastatin(DB00227)|NADH(DB00157)|Pravastatin(DB00175)|Rosuvastatin(DB01098)|Simvastatin(DB00641)	CTTCTTCTCTCCAGTACCTAC	0.378													27	32					0	0	1	0	0	T	74650486	C	T	74650486	2	4	81	1	0	0	0	0	0	0	0	1	7272	842	30	2		2	HMGCR	5	74650486	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	324856	74650486	106264774	4473	8089											
POLK	51426	broad.mit.edu	37	5	74892160	74892160	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:74892160G>T	ENST00000241436.4	+	13	1814	c.1642G>T	c.(1642-1644)Gag>Tag	p.E548*	POLK_ENST00000508526.1_Nonsense_Mutation_p.E350*|POLK_ENST00000506928.1_3'UTR|POLK_ENST00000352007.5_Nonsense_Mutation_p.E350*|POLK_ENST00000380481.3_Nonsense_Mutation_p.E458*|POLK_ENST00000504026.1_Intron	NM_016218.2	NP_057302.1	Q9UBT6	POLK_HUMAN	polymerase (DNA directed) kappa	548					DNA replication|nucleotide-excision repair, DNA gap filling	nucleus	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding			endometrium(1)|kidney(4)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	27		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;2.9e-54)|all cancers(79;1.27e-42)		GTGTACATTAGAGAAAACTGA	0.383								DNA polymerases (catalytic subunits)					5	40					0.000602214	0.000646338	1	1	0	T	74892160	G	T	74892160	4	4	81	1	0	0	0	0	0	1	0	0	12252	943	33	4	1688	4	POLK	5	74892160	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	241674	74892160	106023100	4474	8090											
SV2C	22987	broad.mit.edu	37	5	75427914	75427914	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:75427914G>A	ENST00000502798.2	+	2	781	c.339G>A	c.(337-339)aaG>aaA	p.K113K	SV2C_ENST00000322285.7_Silent_p.K113K	NM_014979.1	NP_055794.1	Q496J9	SV2C_HUMAN	synaptic vesicle glycoprotein 2C	113					neurotransmitter transport	cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40)		GGCAGCCCAAGGGCGATGAGT	0.542													7	25					0	0	1	0	0	A	75427914	G	A	75427914	2	1	81	1	0	0	0	0	0	0	0	1	15475	991	35	2		2	SV2C	5	75427914	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	535754	75427914	105487346	4475	8091											
SV2C	22987	broad.mit.edu	37	5	75621360	75621360	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:75621360G>T	ENST00000502798.2	+	13	2614	c.2172G>T	c.(2170-2172)caG>caT	p.Q724H	SV2C_ENST00000322285.7_Intron	NM_014979.1	NP_055794.1	Q496J9	SV2C_HUMAN	synaptic vesicle glycoprotein 2C	724					neurotransmitter transport	cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40)		CACGAACCCAGGTTCTGATGT	0.517													27	37					2.12542e-12	2.65769e-12	1	1	0	T	75621360	G	T	75621360	3	4	81	1	0	0	0	0	1	0	0	0	15475	991	35	4	2218	4	SV2C	5	75621360	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	193446	75621360	105293900	4476	8092											
IQGAP2	10788	broad.mit.edu	37	5	75902110	75902110	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:75902110A>G	ENST00000274364.6	+	12	1636	c.1339A>G	c.(1339-1341)Att>Gtt	p.I447V	IQGAP2_ENST00000379730.3_Missense_Mutation_p.I6V	NM_006633.2	NP_006624	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	447					small GTPase mediated signal transduction	actin cytoskeleton	actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		TAATGCTCAAATTCAAGAAGA	0.348													16	23					0	0	1	0	0	G	75902110	A	G	75902110	3	3	81	1	0	0	0	0	1	0	0	0	7859	101	4	3	1385	3	IQGAP2	5	75902110	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	280750	75902110	105013150	4477	8093											
IQGAP2	10788	broad.mit.edu	37	5	75927843	75927843	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:75927843C>T	ENST00000274364.6	+	15	2069	c.1772C>T	c.(1771-1773)tCt>tTt	p.S591F	IQGAP2_ENST00000396234.3_Missense_Mutation_p.S144F|IQGAP2_ENST00000502745.1_Missense_Mutation_p.S144F|IQGAP2_ENST00000379730.3_Missense_Mutation_p.S150F	NM_006633.2	NP_006624	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	591					small GTPase mediated signal transduction	actin cytoskeleton	actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		GAGCTCAAATCTGAAAGAGGT	0.328													37	44					0	0	1	0	0	T	75927843	C	T	75927843	3	4	81	1	0	0	0	0	1	0	0	0	7859	913	32	2	1830	2	IQGAP2	5	75927843	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	25733	75927843	104987417	4478	8094											
IQGAP2	10788	broad.mit.edu	37	5	75967619	75967619	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:75967619G>A	ENST00000274364.6	+	24	3176	c.2879G>A	c.(2878-2880)gGt>gAt	p.G960D	IQGAP2_ENST00000396234.3_Missense_Mutation_p.G456D|IQGAP2_ENST00000502745.1_Missense_Mutation_p.G456D|IQGAP2_ENST00000379730.3_Missense_Mutation_p.G462D	NM_006633.2	NP_006624	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	960	Ras-GAP.				small GTPase mediated signal transduction	actin cytoskeleton	actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		ATAGTTACTGGTAACCCTACA	0.433													25	34					0	0	1	0	0	A	75967619	G	A	75967619	3	1	81	1	0	0	0	0	1	0	0	0	7859	1261	44	2	2973	2	IQGAP2	5	75967619	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	39776	75967619	104947641	4479	8095											
IQGAP2	10788	broad.mit.edu	37	5	75969777	75969777	+	Splice_Site	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:75969777T>C	ENST00000274364.6	+	26	3507	c.3210T>C	c.(3208-3210)ccT>ccC	p.P1070P	IQGAP2_ENST00000396234.3_Splice_Site_p.P566P|IQGAP2_ENST00000502745.1_Splice_Site_p.P566P|IQGAP2_ENST00000379730.3_Splice_Site_p.P572P	NM_006633.2	NP_006624	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	1070	Ras-GAP.				small GTPase mediated signal transduction	actin cytoskeleton	actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		TTATATGTAGTTATGGATTGA	0.363													7	76					0	0	1	0	0	C	75969777	T	C	75969777	5	2	81	1	0	0	0	0	0	0	1	0	7859	1739	60	3	3312	3	IQGAP2	5	75969777	Splice_Site	SNP	T	TCGA-DU-6392-01A-11D-1705-08	2158	75969777	104945483	4480	8096											
CRHBP	1393	broad.mit.edu	37	5	76254685	76254685	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:76254685C>A	ENST00000274368.4	+	5	1086	c.664C>A	c.(664-666)Ctg>Atg	p.L222M	CRHBP_ENST00000506501.1_Missense_Mutation_p.L222M|CRHBP_ENST00000514258.1_3'UTR	NM_001882.3	NP_001873.2	P24387	CRHBP_HUMAN	corticotropin releasing hormone binding protein	222					female pregnancy|learning or memory|signal transduction	soluble fraction				kidney(3)|large_intestine(4)|lung(6)|prostate(1)|skin(2)	16		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;2.17e-51)|Epithelial(54;8.79e-46)|all cancers(79;2.49e-41)		TGATCTTACCCTGGGACACGT	0.413													13	39					5.50884e-06	6.24461e-06	1	1	0	A	76254685	C	A	76254685	3	1	81	1	0	0	0	0	1	0	0	0	3893	680	24	4	682	4	CRHBP	5	76254685	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	284908	76254685	104660575	4481	8097											
TBCA	6902	broad.mit.edu	37	5	77004141	77004141	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:77004141C>A	ENST00000306388.6	-	2	114	c.85G>T	c.(85-87)Gag>Tag	p.E29*	TBCA_ENST00000380377.4_Nonsense_Mutation_p.E29*|TBCA_ENST00000518338.2_Nonsense_Mutation_p.E29*|TBCA_ENST00000517679.1_Nonsense_Mutation_p.E40*|TBCA_ENST00000522370.1_Nonsense_Mutation_p.E5*|TBCA_ENST00000520361.1_Nonsense_Mutation_p.E29*|TBCA_ENST00000520039.1_Intron			O75347	TBCA_HUMAN	tubulin folding cofactor A	29					'de novo' posttranslational protein folding|post-chaperonin tubulin folding pathway|tubulin complex assembly	cytoplasm|microtubule	chaperone binding|unfolded protein binding			kidney(1)|large_intestine(2)|lung(1)|ovary(1)	5		all_lung(232;0.000511)|Lung NSC(167;0.000601)|Ovarian(174;0.0105)|Prostate(461;0.214)		OV - Ovarian serous cystadenocarcinoma(54;1.02e-49)|Epithelial(54;1.05e-44)|all cancers(79;4.08e-40)		TGTTTTGCCTCTTTTTCATAC	0.284													4	28					1	1	1	1	0	A	77004141	C	A	77004141	4	1	81	1	0	0	0	0	0	1	0	0	15689	922	32	4	253	4	TBCA	5	77004141	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	749456	77004141	103911119	4482	8098											
BHMT2	23743	broad.mit.edu	37	5	78379191	78379191	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:78379191C>A	ENST00000255192.3	+	6	841	c.775C>A	c.(775-777)Ccc>Acc	p.P259T	BHMT2_ENST00000521567.1_Missense_Mutation_p.P195T|DMGDH_ENST00000520388.1_Intron	NM_017614.4	NP_060084.2	Q9H2M3	BHMT2_HUMAN	betaine--homocysteine S-methyltransferase 2	259	Hcy-binding.				methionine biosynthetic process	cytoplasm	betaine-homocysteine S-methyltransferase activity|homocysteine S-methyltransferase activity|zinc ion binding			endometrium(2)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|urinary_tract(1)	15		all_lung(232;0.00063)|Lung NSC(167;0.00171)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;2.09e-45)|Epithelial(54;9.3e-41)|all cancers(79;4.09e-36)	L-Methionine(DB00134)	CCCAGAATATCCCTTTGGTAA	0.488													6	33					1	1	1	1	0	A	78379191	C	A	78379191	3	1	81	1	0	0	0	0	1	0	0	0	1425	855	30	5	797	5	BHMT2	5	78379191	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1375050	78379191	102536069	4483	8099											
JMY	133746	broad.mit.edu	37	5	78610358	78610358	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:78610358T>C	ENST00000396137.4	+	9	2805	c.2343T>C	c.(2341-2343)ccT>ccC	p.P781P	JMY_ENST00000412001.1_Intron	NM_152405.4	NP_689618.4	Q8N9B5	JMY_HUMAN	junction mediating and regulatory protein, p53 cofactor	781	Pro-rich.				'de novo' actin filament nucleation|actin polymerization-dependent cell motility|Arp2/3 complex-mediated actin nucleation|cell cycle arrest|DNA repair|induction of apoptosis|positive regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter	cell leading edge|cytoplasm|cytoskeleton|nucleus	actin binding|transcription coactivator activity	p.P427P(1)|p.P781P(1)		endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|urinary_tract(1)	16		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35)		CTGAACTGCCTCCCACTATAT	0.468													9	127					0	0	1	0	0	C	78610358	T	C	78610358	2	2	81	1	0	0	0	0	0	0	0	1	8001	1538	54	3		3	JMY	5	78610358	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	231167	78610358	102304902	4484	8100											
HOMER1	9456	broad.mit.edu	37	5	78693448	78693448	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:78693448C>T	ENST00000334082.6	-	7	2139	c.697G>A	c.(697-699)Gaa>Aaa	p.E233K	HOMER1_ENST00000508576.1_Intron|HOMER1_ENST00000282260.6_Missense_Mutation_p.E103K|HOMER1_ENST00000535690.1_Missense_Mutation_p.E59K	NM_004272.3	NP_004263.1	Q86YM7	HOME1_HUMAN	homer homolog 1 (Drosophila)	233					activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic density|postsynaptic membrane				endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|prostate(2)|skin(1)	14		Lung NSC(167;0.00131)|all_lung(232;0.00151)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;1.87e-44)|Epithelial(54;7.07e-41)|all cancers(79;5.5e-36)		CTAACACATTCAAGTTCAGTC	0.328													6	90					0	0	1	0	0	T	78693448	C	T	78693448	3	4	81	1	0	0	0	0	1	0	0	0	7319	835	29	2	379	2	HOMER1	5	78693448	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	83090	78693448	102221812	4485	8101											
PAPD4	167153	broad.mit.edu	37	5	78975427	78975427	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:78975427C>T	ENST00000453514.1	+	13	1927	c.1234C>T	c.(1234-1236)Cgt>Tgt	p.R412C	PAPD4_ENST00000423041.2_Missense_Mutation_p.R408C|PAPD4_ENST00000504233.1_Missense_Mutation_p.R369C|PAPD4_ENST00000428308.2_Missense_Mutation_p.R412C|PAPD4_ENST00000296783.3_Missense_Mutation_p.R412C	NM_001114394.1	NP_001107866.1	Q6PIY7	GLD2_HUMAN	PAP associated domain containing 4	412	PAP-associated.				histone mRNA catabolic process|mRNA processing|RNA polyadenylation	cytoplasm	ATP binding|metal ion binding|polynucleotide adenylyltransferase activity			biliary_tract(1)|breast(2)|endometrium(4)|kidney(3)|large_intestine(9)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Lung NSC(167;0.00293)|all_lung(232;0.00323)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;8.61e-47)|Epithelial(54;1.32e-41)|all cancers(79;2.45e-36)		GATTTCAGTTCGTGAAGCCAA	0.313													18	33					0	0	1	0	0	T	78975427	C	T	78975427	3	4	81	1	0	0	0	0	1	0	0	0	11471	884	31	1	1280	1	PAPD4	5	78975427	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	281979	78975427	101939833	4486	8102											
THBS4	7060	broad.mit.edu	37	5	79355669	79355669	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:79355669T>C	ENST00000350881.2	+	7	1118	c.928T>C	c.(928-930)Tgt>Cgt	p.C310R	CTD-2201I18.1_ENST00000503007.1_RNA|THBS4_ENST00000511733.1_Missense_Mutation_p.C219R	NM_003248.4	NP_003239.2	P35443	TSP4_HUMAN	thrombospondin 4	310	EGF-like 1.				endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation	basement membrane|extracellular space	calcium ion binding|heparin binding|integrin binding|structural molecule activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		TGGCTTCCAGTGTGGGCCCTG	0.572													61	118					0	0	1	0	0	C	79355669	T	C	79355669	3	2	81	1	0	0	0	0	1	0	0	0	15916	1696	59	3	954	3	THBS4	5	79355669	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	380242	79355669	101559591	4487	8103											
THBS4	7060	broad.mit.edu	37	5	79357584	79357584	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:79357584G>A	ENST00000350881.2	+	8	1244	c.1054G>A	c.(1054-1056)Gcc>Acc	p.A352T	CTD-2201I18.1_ENST00000503007.1_RNA|THBS4_ENST00000511733.1_Missense_Mutation_p.A261T	NM_003248.4	NP_003239.2	P35443	TSP4_HUMAN	thrombospondin 4	352	EGF-like 2; calcium-binding (Potential).				endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation	basement membrane|extracellular space	calcium ion binding|heparin binding|integrin binding|structural molecule activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		CAGATGTGACGCCTGCCCAGT	0.498													5	48					0	0	1	0	0	A	79357584	G	A	79357584	3	1	81	1	0	0	0	0	1	0	0	0	15916	1087	38	1	1084	1	THBS4	5	79357584	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1915	79357584	101557676	4488	8104											
SPZ1	84654	broad.mit.edu	37	5	79616311	79616311	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:79616311G>T	ENST00000296739.4	+	1	522	c.277G>T	c.(277-279)Gca>Tca	p.A93S		NM_032567.3	NP_115956.3	Q9BXG8	SPZ1_HUMAN	spermatogenic leucine zipper 1	93					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			endometrium(2)|kidney(5)|large_intestine(4)|lung(12)|ovary(1)|skin(2)	26		Lung NSC(167;0.0393)|all_lung(232;0.0428)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;3.43e-47)|Epithelial(54;2.25e-41)|all cancers(79;4.19e-36)		GATCACAGAAGCAAAAGAACT	0.318													20	41					3.8784e-16	4.9676e-16	1	1	0	T	79616311	G	T	79616311	3	4	81	1	0	0	0	0	1	0	0	0	15183	971	34	4	279	4	SPZ1	5	79616311	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	258727	79616311	101298949	4489	8105											
SPZ1	84654	broad.mit.edu	37	5	79617030	79617030	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:79617030G>A	ENST00000296739.4	+	1	1241	c.996G>A	c.(994-996)caG>caA	p.Q332Q		NM_032567.3	NP_115956.3	Q9BXG8	SPZ1_HUMAN	spermatogenic leucine zipper 1	332					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			endometrium(2)|kidney(5)|large_intestine(4)|lung(12)|ovary(1)|skin(2)	26		Lung NSC(167;0.0393)|all_lung(232;0.0428)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;3.43e-47)|Epithelial(54;2.25e-41)|all cancers(79;4.19e-36)		AAATCTTACAGCAGAGAGTAG	0.418													43	51					0	0	1	0	0	A	79617030	G	A	79617030	2	1	81	1	0	0	0	0	0	0	0	1	15183	962	34	2		2	SPZ1	5	79617030	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	719	79617030	101298230	4490	8106											
SPZ1	84654	broad.mit.edu	37	5	79617181	79617181	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:79617181A>G	ENST00000296739.4	+	1	1392	c.1147A>G	c.(1147-1149)Atg>Gtg	p.M383V		NM_032567.3	NP_115956.3	Q9BXG8	SPZ1_HUMAN	spermatogenic leucine zipper 1	383					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			endometrium(2)|kidney(5)|large_intestine(4)|lung(12)|ovary(1)|skin(2)	26		Lung NSC(167;0.0393)|all_lung(232;0.0428)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;3.43e-47)|Epithelial(54;2.25e-41)|all cancers(79;4.19e-36)		CAAGCAAGCAATGAAGGGTAC	0.363													32	53					0	0	1	0	0	G	79617181	A	G	79617181	3	3	81	1	0	0	0	0	1	0	0	0	15183	101	4	3	1149	3	SPZ1	5	79617181	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	151	79617181	101298079	4491	8107											
ANKRD34B	340120	broad.mit.edu	37	5	79855332	79855332	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:79855332C>T	ENST00000338682.3	-	5	1179	c.507G>A	c.(505-507)atG>atA	p.M169I		NM_001004441.2	NP_001004441.2	A5PLL1	AN34B_HUMAN	ankyrin repeat domain 34B	169						cytoplasm|nucleus				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	28		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;2.17e-46)|Epithelial(54;5.64e-41)|all cancers(79;3.24e-36)		CCACAGGAGGCATATTTAAGT	0.438													51	96					0	0	1	0	0	T	79855332	C	T	79855332	3	4	81	1	0	0	0	0	1	0	0	0	658	710	25	2	1041	2	ANKRD34B	5	79855332	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	238151	79855332	101059928	4492	8108											
MSH3	4437	broad.mit.edu	37	5	79952298	79952298	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:79952298G>T	ENST00000265081.6	+	2	386	c.306G>T	c.(304-306)aaG>aaT	p.K102N		NM_002439.4	NP_002430.3	P20585	MSH3_HUMAN	mutS homolog 3	102	Interaction with EXO1.				maintenance of DNA repeat elements|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|somatic recombination of immunoglobulin gene segments	MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|enzyme binding|loop DNA binding|Y-form DNA binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)		AGAAAGTAAAGAAAGTCCAAC	0.408								Mismatch excision repair (MMR)					26	40					1.66031e-10	2.03454e-10	1	1	0	T	79952298	G	T	79952298	3	4	81	1	0	0	0	0	1	0	0	0	9920	933	33	4	312	4	MSH3	5	79952298	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	96966	79952298	100962962	4493	8109											
MSH3	4437	broad.mit.edu	37	5	80160632	80160632	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:80160632G>T	ENST00000265081.6	+	22	3081	c.3001G>T	c.(3001-3003)Gtg>Ttg	p.V1001L		NM_002439.4	NP_002430.3	P20585	MSH3_HUMAN	mutS homolog 3	1001					maintenance of DNA repeat elements|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|somatic recombination of immunoglobulin gene segments	MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|enzyme binding|loop DNA binding|Y-form DNA binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)		ATTGCTTTAGGTGAAATCCTT	0.313								Mismatch excision repair (MMR)					4	46					0.00909568	0.00944708	1	1	0	T	80160632	G	T	80160632	5	4	81	1	0	0	0	0	0	0	1	0	9920	1275	44	5	3087	5	MSH3	5	80160632	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	208334	80160632	100754628	4494	8110											
RASGRF2	5924	broad.mit.edu	37	5	80382721	80382721	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:80382721G>A	ENST00000265080.4	+	9	1406	c.1339G>A	c.(1339-1341)Gtg>Atg	p.V447M	RASGRF2_ENST00000502677.1_3'UTR	NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 2	447					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	protein binding|Rho guanyl-nucleotide exchange factor activity			biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		AAGAATGATCGTGGAGGGCTG	0.507													5	43					0	0	1	0	0	A	80382721	G	A	80382721	3	1	81	1	0	0	0	0	1	0	0	0	13125	1145	40	1	1373	1	RASGRF2	5	80382721	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	222089	80382721	100532539	4495	8111											
CKMT2	1160	broad.mit.edu	37	5	80559355	80559355	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:80559355C>T	ENST00000424301.2	+	10	1298	c.1060C>T	c.(1060-1062)Cgt>Tgt	p.R354C	CKMT2-AS1_ENST00000500148.2_RNA|CKMT2-AS1_ENST00000512287.1_RNA|CKMT2-AS1_ENST00000502041.2_RNA|CKMT2-AS1_ENST00000501927.2_RNA|CKMT2_ENST00000254035.4_Missense_Mutation_p.R354C|CKMT2-AS1_ENST00000505295.1_RNA|CKMT2-AS1_ENST00000511495.1_RNA|CKMT2-AS1_ENST00000503483.2_RNA|CKMT2_ENST00000437669.1_Missense_Mutation_p.R354C	NM_001825.2	NP_001816.2	P17540	KCRS_HUMAN	creatine kinase, mitochondrial 2 (sarcomeric)	354	Phosphagen kinase C-terminal.				creatine metabolic process|muscle contraction	mitochondrial inner membrane	ATP binding|creatine kinase activity			breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(4)|urinary_tract(1)	17		Lung NSC(167;0.00475)|all_lung(232;0.00502)|Ovarian(174;0.0336)		OV - Ovarian serous cystadenocarcinoma(54;2.29e-44)|Epithelial(54;1.05e-38)|all cancers(79;4.15e-34)	Creatine(DB00148)	ACTCCAGAAGCGTGGCACAGG	0.453													34	55					0	0	1	0	0	T	80559355	C	T	80559355	3	4	81	1	0	0	0	0	1	0	0	0	3474	768	27	1	1090	1	CKMT2	5	80559355	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	176634	80559355	100355905	4496	8112											
SSBP2	23635	broad.mit.edu	37	5	80724478	80724478	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:80724478T>C	ENST00000320672.4	-	16	1192	c.982A>G	c.(982-984)Agt>Ggt	p.S328G	SSBP2_ENST00000515395.1_Missense_Mutation_p.S306G|SSBP2_ENST00000514493.1_Missense_Mutation_p.S298G|SSBP2_ENST00000505980.1_Missense_Mutation_p.S308G|SSBP2_ENST00000510060.1_5'UTR|SSBP2_ENST00000509053.1_Intron	NM_001256732.1|NM_001256733.1|NM_012446.3	NP_001243661.1|NP_001243662.1|NP_036578.2	P81877	SSBP2_HUMAN	single-stranded DNA binding protein 2	328					regulation of transcription, DNA-dependent	cytoplasm|nucleus	single-stranded DNA binding		SSBP2/JAK2(4)	central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	10		Lung NSC(167;0.00154)|all_lung(232;0.00179)|Ovarian(174;0.0338)		OV - Ovarian serous cystadenocarcinoma(54;1.07e-41)|Epithelial(54;2.79e-35)|all cancers(79;1.18e-29)		GGTTGATTACTCAGGCTCATA	0.363													3	62					0	0	1	0	0	C	80724478	T	C	80724478	3	2	81	1	0	0	0	0	1	0	0	0	15236	1551	54	3	111	3	SSBP2	5	80724478	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	165123	80724478	100190782	4497	8113											
SSBP2	23635	broad.mit.edu	37	5	80946145	80946145	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:80946145C>T	ENST00000320672.4	-	2	286	c.76G>A	c.(76-78)Gta>Ata	p.V26I	SSBP2_ENST00000515395.1_Missense_Mutation_p.V26I|SSBP2_ENST00000514493.1_Missense_Mutation_p.V26I|SSBP2_ENST00000505980.1_Missense_Mutation_p.V26I|SSBP2_ENST00000509053.1_Missense_Mutation_p.V26I	NM_001256732.1|NM_001256733.1|NM_012446.3	NP_001243661.1|NP_001243662.1|NP_036578.2	P81877	SSBP2_HUMAN	single-stranded DNA binding protein 2	26	LisH.				regulation of transcription, DNA-dependent	cytoplasm|nucleus	single-stranded DNA binding	p.V26I(1)	SSBP2/JAK2(4)	central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	10		Lung NSC(167;0.00154)|all_lung(232;0.00179)|Ovarian(174;0.0338)		OV - Ovarian serous cystadenocarcinoma(54;1.07e-41)|Epithelial(54;2.79e-35)|all cancers(79;1.18e-29)		TATTCATATACGTAGAGTGCT	0.284													4	9					0	0	1	0	0	T	80946145	C	T	80946145	3	4	81	1	0	0	0	0	1	0	0	0	15236	536	19	1	1073	1	SSBP2	5	80946145	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	221667	80946145	99969115	4498	8114											
VCAN	1462	broad.mit.edu	37	5	82817011	82817011	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:82817011G>T	ENST00000265077.3	+	7	3451	c.2886G>T	c.(2884-2886)gaG>gaT	p.E962D	VCAN_ENST00000502527.2_Intron|VCAN_ENST00000512590.2_Missense_Mutation_p.E914D|VCAN_ENST00000343200.5_Intron|VCAN_ENST00000342785.4_Missense_Mutation_p.E962D	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	962	GAG-alpha (glucosaminoglycan attachment domain).				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		GCACCCAAGAGCCTACTACTT	0.433													45	81					2.74695e-27	3.6465e-27	1	1	0	T	82817011	G	T	82817011	3	4	81	1	0	0	0	0	1	0	0	0	17198	962	34	4	2908	4	VCAN	5	82817011	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1870866	82817011	98098249	4499	8115											
VCAN	1462	broad.mit.edu	37	5	82834120	82834120	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:82834120T>G	ENST00000265077.3	+	8	5863	c.5298T>G	c.(5296-5298)gaT>gaG	p.D1766E	VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000512590.2_Intron|VCAN_ENST00000343200.5_Missense_Mutation_p.D779E|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000342785.4_Intron	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	1766	GAG-beta.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		CATCTAGTGATTCAGGTACCA	0.363													31	61					0	0	1	0	0	G	82834120	T	G	82834120	3	3	81	1	0	0	0	0	1	0	0	0	17198	1490	52	4	5324	4	VCAN	5	82834120	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	17109	82834120	98081140	4500	8116											
VCAN	1462	broad.mit.edu	37	5	82835797	82835797	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:82835797G>A	ENST00000265077.3	+	8	7540	c.6975G>A	c.(6973-6975)ggG>ggA	p.G2325G	VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000512590.2_Intron|VCAN_ENST00000343200.5_Silent_p.G1338G|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000342785.4_Intron	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	2325	GAG-beta.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		AAGGTAGTGGGTCAGTAACCA	0.443													37	56					0	0	1	0	0	A	82835797	G	A	82835797	2	1	81	1	0	0	0	0	0	0	0	1	17198	1248	44	2		2	VCAN	5	82835797	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1677	82835797	98079463	4501	8117											
VCAN	1462	broad.mit.edu	37	5	82836002	82836002	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:82836002A>G	ENST00000265077.3	+	8	7745	c.7180A>G	c.(7180-7182)Aca>Gca	p.T2394A	VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000512590.2_Intron|VCAN_ENST00000343200.5_Missense_Mutation_p.T1407A|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000342785.4_Intron	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	2394	GAG-beta.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		AATTAACGAAACAACAACCTC	0.383													11	38					0	0	1	0	0	G	82836002	A	G	82836002	3	3	81	1	0	0	0	0	1	0	0	0	17198	43	2	3	7206	3	VCAN	5	82836002	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	205	82836002	98079258	4502	8118											
VCAN	1462	broad.mit.edu	37	5	82837275	82837275	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:82837275C>T	ENST00000265077.3	+	8	9018	c.8453C>T	c.(8452-8454)gCg>gTg	p.A2818V	VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000512590.2_Intron|VCAN_ENST00000343200.5_Missense_Mutation_p.A1831V|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000342785.4_Intron	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	2818	GAG-beta.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		TCAACATTTGCGAAGTTGTCT	0.493													16	75					0	0	1	0	0	T	82837275	C	T	82837275	3	4	81	1	0	0	0	0	1	0	0	0	17198	768	27	1	8479	1	VCAN	5	82837275	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1273	82837275	98077985	4503	8119											
EDIL3	10085	broad.mit.edu	37	5	83259100	83259100	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:83259100C>T	ENST00000296591.5	-	10	1635	c.1217G>A	c.(1216-1218)gGc>gAc	p.G406D	EDIL3_ENST00000380138.3_Missense_Mutation_p.G396D	NM_005711.3	NP_005702.3	O43854	EDIL3_HUMAN	EGF-like repeats and discoidin I-like domains 3	406	F5/8 type C 2.				cell adhesion|multicellular organismal development	extracellular region	calcium ion binding|integrin binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(5)|skin(3)	31		Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425)		OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26)		TTTGTAGGAGCCAACAAACTG	0.378													6	102					0	0	1	0	0	T	83259100	C	T	83259100	3	4	81	1	0	0	0	0	1	0	0	0	4941	739	26	2	233	2	EDIL3	5	83259100	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	421825	83259100	97656160	4504	8120											
EDIL3	10085	broad.mit.edu	37	5	83433159	83433159	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:83433159G>A	ENST00000296591.5	-	5	787	c.369C>T	c.(367-369)tgC>tgT	p.C123C	EDIL3_ENST00000380138.3_Silent_p.C113C	NM_005711.3	NP_005702.3	O43854	EDIL3_HUMAN	EGF-like repeats and discoidin I-like domains 3	123	EGF-like 3.				cell adhesion|multicellular organismal development	extracellular region	calcium ion binding|integrin binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(5)|skin(3)	31		Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425)		OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26)		GCTCAACTTCGCATTCATTTA	0.333													31	47					0	0	1	0	0	A	83433159	G	A	83433159	2	1	81	1	0	0	0	0	0	0	0	1	4941	1079	38	1		1	EDIL3	5	83433159	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	174059	83433159	97482101	4505	8121											
RASA1	5921	broad.mit.edu	37	5	86627205	86627205	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:86627205C>T	ENST00000456692.2	+	2	164	c.49C>T	c.(49-51)Cgc>Tgc	p.R17C	RASA1_ENST00000274376.6_Missense_Mutation_p.R194C|RASA1_ENST00000506290.1_Missense_Mutation_p.R28C|RASA1_ENST00000512763.1_Missense_Mutation_p.R27C	NM_022650.2	NP_072179.1	P20936	RASA1_HUMAN	RAS p21 protein activator (GTPase activating protein) 1	194	Poly-Gly.				cytokinesis|embryo development|intracellular signal transduction|negative regulation of cell-matrix adhesion|negative regulation of neuron apoptosis|negative regulation of Ras protein signal transduction|positive regulation of anti-apoptosis|regulation of actin filament polymerization|regulation of cell shape|regulation of RNA metabolic process|vasculogenesis	cytosol|intrinsic to internal side of plasma membrane	glycoprotein binding|GTPase binding|potassium channel inhibitor activity|Ras GTPase activator activity|receptor binding	p.R17C(1)|p.R194C(1)		NS(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(12)|lung(13)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	48		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)		AGCAGAAGAACGCCTCAGGCA	0.428													27	57					0	0	1	0	0	T	86627205	C	T	86627205	3	4	81	1	0	0	0	0	1	0	0	0	13112	536	19	1	598	1	RASA1	5	86627205	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3194046	86627205	94288055	4506	8122											
CCNH	902	broad.mit.edu	37	5	86690887	86690887	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:86690887C>T	ENST00000508855.1	-	7	737	c.685G>A	c.(685-687)Gtc>Atc	p.V229I	CCNH_ENST00000256897.4_Missense_Mutation_p.V303I|CCNH_ENST00000504878.1_Missense_Mutation_p.V229I			P51946	CCNH_HUMAN	cyclin H	303					G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|S phase of mitotic cell cycle|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	cyclin-dependent protein kinase activating kinase holoenzyme complex|holo TFIIH complex	protein kinase binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(1)|lung(2)|ovary(2)	15		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;9.01e-39)|Epithelial(54;5.08e-33)|all cancers(79;4.28e-28)		TTCTTTGAGACGTAATCATCA	0.313								Direct reversal of damage;Direct reversal of damage;Nucleotide excision repair (NER)					51	121					0	0	1	0	0	T	86690887	C	T	86690887	3	4	81	1	0	0	0	0	1	0	0	0	2947	536	19	1	72	1	CCNH	5	86690887	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	63682	86690887	94224373	4507	8123											
CCNH	902	broad.mit.edu	37	5	86707051	86707051	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:86707051C>T	ENST00000508855.1	-	1	60	c.8G>A	c.(7-9)aGa>aAa	p.R3K	CCNH_ENST00000513499.1_5'UTR|CCNH_ENST00000256897.4_Missense_Mutation_p.R77K|CCNH_ENST00000504878.1_Missense_Mutation_p.R3K			P51946	CCNH_HUMAN	cyclin H	77					G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|S phase of mitotic cell cycle|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	cyclin-dependent protein kinase activating kinase holoenzyme complex|holo TFIIH complex	protein kinase binding	p.R77K(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(1)|lung(2)|ovary(2)	15		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;9.01e-39)|Epithelial(54;5.08e-33)|all cancers(79;4.28e-28)		CACAACAGATCTTGGCATTGC	0.383								Direct reversal of damage;Direct reversal of damage;Nucleotide excision repair (NER)					50	73					0	0	1	0	0	T	86707051	C	T	86707051	3	4	81	1	0	0	0	0	1	0	0	0	2947	913	32	2	773	2	CCNH	5	86707051	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	16164	86707051	94208209	4508	8124											
GPR98	84059	broad.mit.edu	37	5	89939703	89939703	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:89939703G>T	ENST00000405460.2	+	14	2733	c.2637G>T	c.(2635-2637)acG>acT	p.T879T		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	879					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TCAATATAACGATTCTGAAAA	0.403													8	12					3.09899e-07	3.60815e-07	1	1	0	T	89939703	G	T	89939703	2	4	81	1	0	0	0	0	0	0	0	1	6762	1045	37	5		5	GPR98	5	89939703	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	3232652	89939703	90975557	4509	8125											
GPR98	84059	broad.mit.edu	37	5	89953850	89953850	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:89953850G>A	ENST00000405460.2	+	21	4603	c.4507G>A	c.(4507-4509)Gca>Aca	p.A1503T		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	1503					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TGCCATGCCCGCAAAAAGTGA	0.408													37	61					0	0	1	0	0	A	89953850	G	A	89953850	3	1	81	1	0	0	0	0	1	0	0	0	6762	1087	38	1	4589	1	GPR98	5	89953850	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	14147	89953850	90961410	4510	8126											
GPR98	84059	broad.mit.edu	37	5	89988577	89988577	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:89988577C>T	ENST00000405460.2	+	32	7203	c.7107C>T	c.(7105-7107)tcC>tcT	p.S2369S		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	2369					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		AAAGAAGTTCCTGTGCTAATA	0.443													3	11					0	0	1	0	0	T	89988577	C	T	89988577	2	4	81	1	0	0	0	0	0	0	0	1	6762	668	24	2		2	GPR98	5	89988577	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	34727	89988577	90926683	4511	8127											
GPR98	84059	broad.mit.edu	37	5	89989955	89989955	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:89989955C>T	ENST00000405460.2	+	33	7478	c.7382C>T	c.(7381-7383)cCc>cTc	p.P2461L		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	2461					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TCTGAGGGTCCCCAGTGTTTC	0.483													22	19					0	0	1	0	0	T	89989955	C	T	89989955	3	4	81	1	0	0	0	0	1	0	0	0	6762	623	22	2	7512	2	GPR98	5	89989955	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1378	89989955	90925305	4512	8128											
GPR98	84059	broad.mit.edu	37	5	90001396	90001396	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:90001396G>T	ENST00000405460.2	+	37	8662	c.8566G>T	c.(8566-8568)Gga>Tga	p.G2856*		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	2856					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TGGATCTCTAGGTTTGTGTTA	0.358													7	42					1.26484e-09	1.5311e-09	1	1	0	T	90001396	G	T	90001396	5	4	81	1	0	0	0	0	0	0	1	0	6762	1014	35	4	8712	4	GPR98	5	90001396	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	11441	90001396	90913864	4513	8129											
GPR98	84059	broad.mit.edu	37	5	90021442	90021442	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:90021442C>T	ENST00000405460.2	+	48	10226	c.10130C>T	c.(10129-10131)gCa>gTa	p.A3377V		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	3377					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TTAATCATTGCAAGTCAAAGA	0.303													7	83					0	0	1	0	0	T	90021442	C	T	90021442	3	4	81	1	0	0	0	0	1	0	0	0	6762	710	25	2	10320	2	GPR98	5	90021442	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	20046	90021442	90893818	4514	8130											
GPR98	84059	broad.mit.edu	37	5	90052412	90052412	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:90052412G>A	ENST00000405460.2	+	56	11818	c.11722G>A	c.(11722-11724)Gat>Aat	p.D3908N		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	3908					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		AGAAAATGACGATCCCAGAGG	0.443													11	27					0	0	1	0	0	A	90052412	G	A	90052412	3	1	81	1	0	0	0	0	1	0	0	0	6762	1058	37	1	11944	1	GPR98	5	90052412	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	30970	90052412	90862848	4515	8131											
GPR98	84059	broad.mit.edu	37	5	90052921	90052921	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:90052921T>G	ENST00000405460.2	+	57	11979	c.11883T>G	c.(11881-11883)agT>agG	p.S3961R		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	3961					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		CACCAGACAGTGCTGGCCTGG	0.448													14	42					0	0	1	0	0	G	90052921	T	G	90052921	3	3	81	1	0	0	0	0	1	0	0	0	6762	1693	59	5	12109	5	GPR98	5	90052921	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	509	90052921	90862339	4516	8132											
GPR98	84059	broad.mit.edu	37	5	90074889	90074889	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:90074889A>C	ENST00000405460.2	+	64	13153	c.13057A>C	c.(13057-13059)Att>Ctt	p.I4353L		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	4353	Calx-beta 29.				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TTCTCTAACAATTACAAAGGT	0.423													15	18					0	0	1	0	0	C	90074889	A	C	90074889	3	2	81	1	0	0	0	0	1	0	0	0	6762	101	4	4	13311	4	GPR98	5	90074889	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	21968	90074889	90840371	4517	8133											
POU5F2	134187	broad.mit.edu	37	5	93076611	93076611	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:93076611C>T	ENST00000510627.4	-	1	732	c.659G>A	c.(658-660)cGa>cAa	p.R220Q	FAM172A_ENST00000395965.3_Intron|FAM172A_ENST00000509739.1_Intron|FAM172A_ENST00000509163.1_Intron|FAM172A_ENST00000505869.1_Intron|POU5F2_ENST00000606183.1_5'UTR	NM_153216.1	NP_694948.1	Q8N7G0	PO5F2_HUMAN	POU domain class 5, transcription factor 2	220						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity						all_cancers(142;3.87e-05)|all_epithelial(76;4.59e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0415)|all cancers(79;2.03e-19)		GTTTCCGATTCGTCGCTCTCT	0.547													20	34					0	0	1	0	0	T	93076611	C	T	93076611	3	4	81	1	0	0	0	0	1	0	0	0	12328	884	31	1	331	1	POU5F2	5	93076611	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3001722	93076611	87838649	4518	8134											
POU5F2	134187	broad.mit.edu	37	5	93076630	93076630	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:93076630G>A	ENST00000510627.4	-	1	713	c.640C>T	c.(640-642)Cgg>Tgg	p.R214W	FAM172A_ENST00000395965.3_Intron|FAM172A_ENST00000509739.1_Intron|FAM172A_ENST00000509163.1_Intron|FAM172A_ENST00000505869.1_Intron|POU5F2_ENST00000606183.1_5'UTR	NM_153216.1	NP_694948.1	Q8N7G0	PO5F2_HUMAN	POU domain class 5, transcription factor 2	214						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity						all_cancers(142;3.87e-05)|all_epithelial(76;4.59e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0415)|all cancers(79;2.03e-19)		CTGCTTGCCCGTCTCCACTTC	0.542													23	40					0	0	1	0	0	A	93076630	G	A	93076630	3	1	81	1	0	0	0	0	1	0	0	0	12328	1144	40	1	350	1	POU5F2	5	93076630	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	19	93076630	87838630	4519	8135											
POU5F2	134187	broad.mit.edu	37	5	93076929	93076929	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:93076929G>A	ENST00000510627.4	-	1	414	c.341C>T	c.(340-342)cCg>cTg	p.P114L	FAM172A_ENST00000395965.3_Intron|FAM172A_ENST00000509739.1_Intron|FAM172A_ENST00000509163.1_Intron|FAM172A_ENST00000505869.1_Intron	NM_153216.1	NP_694948.1	Q8N7G0	PO5F2_HUMAN	POU domain class 5, transcription factor 2	114						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity						all_cancers(142;3.87e-05)|all_epithelial(76;4.59e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0415)|all cancers(79;2.03e-19)		CTCTGGCGGCGGCAACTTCGG	0.627													12	28					0	0	1	0	0	A	93076929	G	A	93076929	3	1	81	1	0	0	0	0	1	0	0	0	12328	1116	39	1	649	1	POU5F2	5	93076929	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	299	93076929	87838331	4520	8136											
FAM172A	83989	broad.mit.edu	37	5	93300165	93300165	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:93300165G>T	ENST00000395965.3	-	5	515	c.373C>A	c.(373-375)Cca>Aca	p.P125T	FAM172A_ENST00000509739.1_Missense_Mutation_p.P42T|FAM172A_ENST00000504768.2_5'UTR|FAM172A_ENST00000509163.1_Missense_Mutation_p.P79T|FAM172A_ENST00000505869.1_Missense_Mutation_p.P79T	NM_032042.5	NP_114431.2	Q8WUF8	F172A_HUMAN	family with sequence similarity 172, member A	125						endoplasmic reticulum|extracellular region				endometrium(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	9						TGACTTACTGGAATAGATACT	0.269													9	16					5.4927e-09	6.5834e-09	1	1	0	T	93300165	G	T	93300165	3	4	81	1	0	0	0	0	1	0	0	0	5522	1174	41	5	905	5	FAM172A	5	93300165	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	223236	93300165	87615095	4521	8137											
ANKRD32	84250	broad.mit.edu	37	5	94024299	94024299	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:94024299G>A	ENST00000265140.5	+	17	2629	c.2210G>A	c.(2209-2211)tGt>tAt	p.C737Y		NM_032290.3	NP_115666.2	Q9BQI6	ANR32_HUMAN	ankyrin repeat domain 32	737										NS(1)|breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|skin(1)	13		all_cancers(142;1.51e-09)|all_epithelial(76;4.68e-12)|all_lung(232;5.94e-05)|Ovarian(174;0.000953)|Lung NSC(167;0.00105)|Colorectal(57;0.122)|Lung SC(612;0.152)		all cancers(79;3.88e-18)		CAGCGGCCTTGTTTTGACTCT	0.428													13	96					0	0	1	0	0	A	94024299	G	A	94024299	3	1	81	1	0	0	0	0	1	0	0	0	655	1377	48	2	2272	2	ANKRD32	5	94024299	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	724134	94024299	86890961	4522	8138											
TTC37	9652	broad.mit.edu	37	5	94858910	94858910	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:94858910C>T	ENST00000358746.2	-	18	2051	c.1753G>A	c.(1753-1755)Gct>Act	p.A585T		NM_014639.3	NP_055454.1	Q6PGP7	TTC37_HUMAN	tetratricopeptide repeat domain 37	585							binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	47						CCTTACTCAGCCACTGCTTGA	0.398													62	131					0	0	1	0	0	T	94858910	C	T	94858910	3	4	81	1	0	0	0	0	1	0	0	0	16767	739	26	2	3045	2	TTC37	5	94858910	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	834611	94858910	86056350	4523	8139											
TTC37	9652	broad.mit.edu	37	5	94872782	94872782	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:94872782C>T	ENST00000358746.2	-	9	905	c.607G>A	c.(607-609)Gta>Ata	p.V203I		NM_014639.3	NP_055454.1	Q6PGP7	TTC37_HUMAN	tetratricopeptide repeat domain 37	203							binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	47						CTATAAAGTACTTGGTGATCT	0.299													12	25					0	0	1	0	0	T	94872782	C	T	94872782	3	4	81	1	0	0	0	0	1	0	0	0	16767	565	20	2	4227	2	TTC37	5	94872782	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	13872	94872782	86042478	4524	8140											
PCSK1	5122	broad.mit.edu	37	5	95730650	95730650	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:95730650A>G	ENST00000311106.3	-	13	2039	c.1802T>C	c.(1801-1803)aTg>aCg	p.M601T	CTD-2337A12.1_ENST00000502645.2_RNA|PCSK1_ENST00000508626.1_Missense_Mutation_p.M554T|PCSK1_ENST00000513085.1_5'UTR	NM_000439.4|NM_001177876.1	NP_000430.3|NP_001171347.1	P29120	NEC1_HUMAN	proprotein convertase subtilisin/kexin type 1	601					cell-cell signaling|cellular nitrogen compound metabolic process|energy reserve metabolic process|hormone biosynthetic process|peptide biosynthetic process|peptide hormone processing|regulation of insulin secretion	extracellular space|stored secretory granule|transport vesicle	serine-type endopeptidase activity			NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	36		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;3.44e-16)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	AGGCTGCTTCATATGCTCTGG	0.473													13	69					0	0	1	0	0	G	95730650	A	G	95730650	3	3	81	1	0	0	0	0	1	0	0	0	11647	217	8	3	467	3	PCSK1	5	95730650	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	857868	95730650	85184610	4525	8141											
LNPEP	4012	broad.mit.edu	37	5	96329619	96329619	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:96329619T>C	ENST00000231368.5	+	6	2043	c.1351T>C	c.(1351-1353)Tca>Cca	p.S451P	LNPEP_ENST00000395770.3_Missense_Mutation_p.S437P	NM_005575.2	NP_005566.2	Q9UIQ6	LCAP_HUMAN	leucyl/cystinyl aminopeptidase	451					cell-cell signaling|female pregnancy|proteolysis	extracellular region|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	34		all_cancers(142;7e-07)|all_epithelial(76;9.52e-10)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0269)|Breast(839;0.244)		COAD - Colon adenocarcinoma(37;0.072)		TAACACTTCTTCAATGGCGGA	0.468													7	96					0	0	1	0	0	C	96329619	T	C	96329619	3	2	81	1	0	0	0	0	1	0	0	0	8905	1783	62	3	1373	3	LNPEP	5	96329619	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	598969	96329619	84585641	4526	8142											
LIX1	167410	broad.mit.edu	37	5	96443187	96443187	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:96443187G>A	ENST00000274382.4	-	3	559	c.264C>T	c.(262-264)gcC>gcT	p.A88A	CTD-2215E18.1_ENST00000509481.1_Intron	NM_153234.4	NP_694966.3	Q8N485	LIX1_HUMAN	Lix1 homolog (chicken)	88										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(2)|ovary(1)	10		all_cancers(142;4.28e-07)|all_epithelial(76;1.06e-09)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0318)|Breast(839;0.244)		COAD - Colon adenocarcinoma(37;0.0733)		GCCTGGCCTCGGCTCTACTTA	0.493													29	38					0	0	1	0	0	A	96443187	G	A	96443187	2	1	81	1	0	0	0	0	0	0	0	1	8872	1103	39	1		1	LIX1	5	96443187	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	113568	96443187	84472073	4527	8143											
RIOK2	55781	broad.mit.edu	37	5	96504510	96504510	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:96504510G>A	ENST00000283109.3	-	7	894	c.826C>T	c.(826-828)Cgt>Tgt	p.R276C	RIOK2_ENST00000508447.1_Missense_Mutation_p.R276C|CTD-2215E18.1_ENST00000509481.1_Intron	NM_018343.2	NP_060813.2	Q9BVS4	RIOK2_HUMAN	RIO kinase 2	276	Protein kinase.						ATP binding|protein serine/threonine kinase activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|urinary_tract(2)	23		all_cancers(142;0.000125)|all_epithelial(76;8.48e-07)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0676)|Ovarian(225;0.105)		COAD - Colon adenocarcinoma(37;0.0657)		TAGCTGAAACGTTTCATAAAG	0.323													6	79					0	0	1	0	0	A	96504510	G	A	96504510	3	1	81	1	0	0	0	0	1	0	0	0	13430	1145	40	1	876	1	RIOK2	5	96504510	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	61323	96504510	84410750	4528	8144											
RIOK2	55781	broad.mit.edu	37	5	96514768	96514768	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:96514768G>T	ENST00000283109.3	-	2	264	c.196C>A	c.(196-198)Cgt>Agt	p.R66S	RIOK2_ENST00000508447.1_Missense_Mutation_p.R66S|CTD-2215E18.1_ENST00000509481.1_Intron	NM_018343.2	NP_060813.2	Q9BVS4	RIOK2_HUMAN	RIO kinase 2	66							ATP binding|protein serine/threonine kinase activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|urinary_tract(2)	23		all_cancers(142;0.000125)|all_epithelial(76;8.48e-07)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0676)|Ovarian(225;0.105)		COAD - Colon adenocarcinoma(37;0.0657)		CTTTTGGTACGCTCCCAAGCT	0.393													9	33					1.76689e-08	2.10148e-08	1	1	0	T	96514768	G	T	96514768	3	4	81	1	0	0	0	0	1	0	0	0	13430	1087	38	5	1526	5	RIOK2	5	96514768	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	10258	96514768	84400492	4529	8145											
CHD1	1105	broad.mit.edu	37	5	98193992	98193992	+	Missense_Mutation	SNP	C	C	T	rs72775611	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:98193992C>T	ENST00000284049.3	-	34	4828	c.4679G>A	c.(4678-4680)cGa>cAa	p.R1560Q		NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	1560					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding			NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	TCCCTGATGTCGGTCTTTATG	0.378													83	142					0	0	1	0	0	T	98193992	C	T	98193992	3	4	81	1	0	0	0	0	1	0	0	0	3345	884	31	1	461	1	CHD1	5	98193992	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1679224	98193992	82721268	4530	8146											
CHD1	1105	broad.mit.edu	37	5	98209391	98209391	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:98209391A>G	ENST00000284049.3	-	25	3626	c.3477T>C	c.(3475-3477)gaT>gaC	p.D1159D		NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	1159					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding			NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	TTTCTGACTTATCAACTAACT	0.348													29	43					0	0	1	0	0	G	98209391	A	G	98209391	2	3	81	1	0	0	0	0	0	0	0	1	3345	446	16	3		3	CHD1	5	98209391	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	15399	98209391	82705869	4531	8147											
SLCO4C1	353189	broad.mit.edu	37	5	101585411	101585411	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:101585411T>C	ENST00000310954.6	-	9	1837	c.1551A>G	c.(1549-1551)ggA>ggG	p.G517G		NM_180991.4	NP_851322.3	Q6ZQN7	SO4C1_HUMAN	solute carrier organic anion transporter family, member 4C1	517	Kazal-like.				cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		GGACTCCATCTCCACAGACAG	0.413													6	43					0	0	1	0	0	C	101585411	T	C	101585411	2	2	81	1	0	0	0	0	0	0	0	1	14785	1538	54	3		3	SLCO4C1	5	101585411	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	3376020	101585411	79329849	4532	8148											
SLCO4C1	353189	broad.mit.edu	37	5	101592827	101592827	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:101592827T>C	ENST00000310954.6	-	8	1747	c.1461A>G	c.(1459-1461)tcA>tcG	p.S487S		NM_180991.4	NP_851322.3	Q6ZQN7	SO4C1_HUMAN	solute carrier organic anion transporter family, member 4C1	487					cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		ACCCATTATATGATTCAGATA	0.338													14	35					0	0	1	0	0	C	101592827	T	C	101592827	2	2	81	1	0	0	0	0	0	0	0	1	14785	1451	51	3		3	SLCO4C1	5	101592827	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	7416	101592827	79322433	4533	8149											
SLCO4C1	353189	broad.mit.edu	37	5	101593758	101593758	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:101593758C>A	ENST00000310954.6	-	7	1448	c.1162G>T	c.(1162-1164)Gtt>Ttt	p.V388F		NM_180991.4	NP_851322.3	Q6ZQN7	SO4C1_HUMAN	solute carrier organic anion transporter family, member 4C1	388					cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		GTTGATAGAACTAAACACATA	0.313													7	49					8.12818e-05	8.94031e-05	1	1	0	A	101593758	C	A	101593758	3	1	81	1	0	0	0	0	1	0	0	0	14785	565	20	4	1040	4	SLCO4C1	5	101593758	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	931	101593758	79321502	4534	8150											
SLCO6A1	133482	broad.mit.edu	37	5	101748843	101748843	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:101748843C>A	ENST00000506729.1	-	9	1648	c.1477G>T	c.(1477-1479)Ggg>Tgg	p.G493W	SLCO6A1_ENST00000389019.3_Missense_Mutation_p.G431W|SLCO6A1_ENST00000379807.3_Missense_Mutation_p.G493W|SLCO6A1_ENST00000379810.1_Missense_Mutation_p.G240W|SLCO6A1_ENST00000513675.1_Missense_Mutation_p.G240W			Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family, member 6A1	493						integral to membrane|plasma membrane	transporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		CCCAACTTCCCTGTTCTGTAA	0.303													7	30					0.000157383	0.000171784	1	1	0	A	101748843	C	A	101748843	3	1	81	1	0	0	0	0	1	0	0	0	14787	681	24	4	702	4	SLCO6A1	5	101748843	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	155085	101748843	79166417	4535	8151											
PAM	5066	broad.mit.edu	37	5	102296885	102296885	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:102296885C>T	ENST00000438793.3	+	13	1584	c.1114C>T	c.(1114-1116)Cct>Tct	p.P372S	PAM_ENST00000379787.4_5'UTR|PAM_ENST00000274392.9_Missense_Mutation_p.P275S|PAM_ENST00000346918.2_Missense_Mutation_p.P372S|PAM_ENST00000455264.2_Missense_Mutation_p.P372S|PAM_ENST00000304400.7_Missense_Mutation_p.P372S|PAM_ENST00000348126.2_Missense_Mutation_p.P372S	NM_000919.3|NM_001177306.1|NM_138766.2	NP_000910.2|NP_001170777.1|NP_620121.1	P19021	AMD_HUMAN	peptidylglycine alpha-amidating monooxygenase	372	Peptidylglycine alpha-hydroxylating monooxygenase (By similarity).				peptide metabolic process|protein modification process	extracellular region|integral to membrane|stored secretory granule	L-ascorbic acid binding|peptidylamidoglycolate lyase activity|peptidylglycine monooxygenase activity|protein binding			endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	25		all_cancers(142;3.12e-07)|all_epithelial(76;3.48e-10)|Prostate(80;0.00914)|Lung NSC(167;0.0213)|Ovarian(225;0.024)|Colorectal(57;0.0251)|all_lung(232;0.0284)		Epithelial(69;1.1e-13)|COAD - Colon adenocarcinoma(37;0.0127)	Vitamin C(DB00126)	AGATAAGATTCCTTTACTACA	0.313													13	43					0	0	1	0	0	T	102296885	C	T	102296885	3	4	81	1	0	0	0	0	1	0	0	0	11459	855	30	2	1164	2	PAM	5	102296885	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	548042	102296885	78618375	4536	8152											
PPIP5K2	23262	broad.mit.edu	37	5	102474096	102474096	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:102474096T>A	ENST00000321521.9	+	5	983	c.410T>A	c.(409-411)gTa>gAa	p.V137E	PPIP5K2_ENST00000414217.1_Missense_Mutation_p.V137E|PPIP5K2_ENST00000358359.3_Missense_Mutation_p.V137E|PPIP5K2_ENST00000513500.1_3'UTR			O43314	VIP2_HUMAN	diphosphoinositol pentakisphosphate kinase 2	137					inositol metabolic process	cytosol	acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						AGGAGAGAAGTATATAGTATT	0.308													5	53					0	0	1	0	0	A	102474096	T	A	102474096	3	1	81	1	0	0	0	0	1	0	0	0	12382	1638	57	5	424	5	PPIP5K2	5	102474096	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	177211	102474096	78441164	4537	8153											
PPIP5K2	23262	broad.mit.edu	37	5	102484967	102484967	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:102484967C>A	ENST00000321521.9	+	8	1429	c.856C>A	c.(856-858)Ctc>Atc	p.L286I	PPIP5K2_ENST00000414217.1_Missense_Mutation_p.L286I|PPIP5K2_ENST00000358359.3_Missense_Mutation_p.L286I|PPIP5K2_ENST00000513500.1_3'UTR			O43314	VIP2_HUMAN	diphosphoinositol pentakisphosphate kinase 2	286					inositol metabolic process	cytosol	acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						CCCTGTTATTCTCAATGCACG	0.398													5	50					3.59834e-05	3.99423e-05	1	1	0	A	102484967	C	A	102484967	3	1	81	1	0	0	0	0	1	0	0	0	12382	913	32	4	882	4	PPIP5K2	5	102484967	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	10871	102484967	78430293	4538	8154											
PPIP5K2	23262	broad.mit.edu	37	5	102503964	102503964	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:102503964C>T	ENST00000321521.9	+	19	2824	c.2251C>T	c.(2251-2253)Ctt>Ttt	p.L751F	PPIP5K2_ENST00000414217.1_Missense_Mutation_p.L751F|PPIP5K2_ENST00000358359.3_Missense_Mutation_p.L751F|PPIP5K2_ENST00000513500.1_3'UTR			O43314	VIP2_HUMAN	diphosphoinositol pentakisphosphate kinase 2	751					inositol metabolic process	cytosol	acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						ATTATATAGGCTTTCGAAGGC	0.284													44	77					0	0	1	0	0	T	102503964	C	T	102503964	3	4	81	1	0	0	0	0	1	0	0	0	12382	797	28	2	2321	2	PPIP5K2	5	102503964	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	18997	102503964	78411296	4539	8155											
PPIP5K2	23262	broad.mit.edu	37	5	102522049	102522049	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:102522049C>A	ENST00000321521.9	+	27	3771	c.3198C>A	c.(3196-3198)acC>acA	p.T1066T	PPIP5K2_ENST00000414217.1_Silent_p.T1066T|PPIP5K2_ENST00000358359.3_Silent_p.T1066T|PPIP5K2_ENST00000513500.1_3'UTR			O43314	VIP2_HUMAN	diphosphoinositol pentakisphosphate kinase 2	1066					inositol metabolic process	cytosol	acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						TGTTTAGCACCTCGGTGCTCG	0.493													22	14					3.62473e-10	4.42231e-10	1	1	0	A	102522049	C	A	102522049	2	1	81	1	0	0	0	0	0	0	0	1	12382	668	24	4		4	PPIP5K2	5	102522049	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	18085	102522049	78393211	4540	8156											
NUDT12	83594	broad.mit.edu	37	5	102894605	102894605	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:102894605A>G	ENST00000230792.2	-	3	867	c.771T>C	c.(769-771)ctT>ctC	p.L257L	NUDT12_ENST00000507423.1_Silent_p.L239L	NM_031438.2	NP_113626.1	Q9BQG2	NUD12_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 12	257						nucleus|peroxisome	metal ion binding|NAD+ diphosphatase activity			endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|urinary_tract(1)	12		all_cancers(142;6.38e-08)|all_epithelial(76;1.99e-10)|Prostate(80;0.0138)|Lung NSC(167;0.0212)|Colorectal(57;0.0247)|all_lung(232;0.0283)|Ovarian(225;0.0423)		Epithelial(69;9.3e-13)|COAD - Colon adenocarcinoma(37;0.0221)		TCAATTGCAGAAGGGCTGGCA	0.378													8	29					0	0	1	0	0	G	102894605	A	G	102894605	2	3	81	1	0	0	0	0	0	0	0	1	10776	233	9	3		3	NUDT12	5	102894605	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	372556	102894605	78020655	4541	8157											
EFNA5	1946	broad.mit.edu	37	5	106722938	106722938	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:106722938G>A	ENST00000333274.6	-	4	844	c.563C>T	c.(562-564)gCa>gTa	p.A188V	EFNA5_ENST00000510359.1_5'UTR|EFNA5_ENST00000509503.1_Intron	NM_001962.2	NP_001953.1	P52803	EFNA5_HUMAN	ephrin-A5	188					cell-cell signaling	anchored to plasma membrane|caveola|extracellular space	ephrin receptor binding			large_intestine(6)	6		all_cancers(142;5.15e-06)|all_epithelial(76;4.39e-07)|Prostate(80;0.00726)|Lung NSC(167;0.0736)|Ovarian(225;0.0797)|all_lung(232;0.0854)|Colorectal(57;0.241)		Epithelial(69;1.25e-12)|OV - Ovarian serous cystadenocarcinoma(64;1.32e-11)|BRCA - Breast invasive adenocarcinoma(61;0.0376)|COAD - Colon adenocarcinoma(37;0.109)		ATACTAACCTGCTGGTTCTAA	0.328													7	13					0	0	1	0	0	A	106722938	G	A	106722938	3	1	81	1	0	0	0	0	1	0	0	0	4980	1319	46	2	131	2	EFNA5	5	106722938	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	3828333	106722938	74192322	4542	8158											
FBXL17	64839	broad.mit.edu	37	5	107216719	107216719	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:107216719C>T	ENST00000496714.1	-	7	991	c.790G>A	c.(790-792)Gtt>Att	p.V264I	FBXL17_ENST00000359660.5_Intron|FBXL17_ENST00000542267.1_Intron			Q9UF56	FXL17_HUMAN	F-box and leucine-rich repeat protein 17	665										endometrium(1)|large_intestine(4)|lung(1)	6		all_cancers(142;0.00273)|all_epithelial(76;0.000362)|Prostate(80;0.0115)|Myeloproliferative disorder(839;0.0393)|Ovarian(225;0.232)		OV - Ovarian serous cystadenocarcinoma(64;9.63e-11)|Epithelial(69;4.02e-10)		AAGCAAACAACTTGATAGTCA	0.383													29	56					0	0	1	0	0	T	107216719	C	T	107216719	3	4	81	1	0	0	0	0	1	0	0	0	5746	580	20	2		2	FBXL17	5	107216719	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	493781	107216719	73698541	4543	8159											
FER	2241	broad.mit.edu	37	5	108134082	108134082	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:108134082G>A	ENST00000281092.4	+	3	583	c.199G>A	c.(199-201)Gta>Ata	p.V67I	FER_ENST00000438717.2_5'UTR|FER_ENST00000502752.1_3'UTR|FER_ENST00000536402.1_Missense_Mutation_p.V67I	NM_005246.2	NP_005237.2	P16591	FER_HUMAN	fer (fps/fes related) tyrosine kinase	67	Important for interaction with membranes containing phosphoinositides.				intracellular signal transduction|peptidyl-tyrosine phosphorylation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			NS(2)|biliary_tract(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	32		all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152)		OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174)		TGTCAGCAACGTATCCAAGGT	0.294													16	29					0	0	1	0	0	A	108134082	G	A	108134082	3	1	81	1	0	0	0	0	1	0	0	0	5846	1145	40	1	201	1	FER	5	108134082	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	917363	108134082	72781178	4544	8160											
PJA2	9867	broad.mit.edu	37	5	108719214	108719214	+	Translation_Start_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:108719214G>T	ENST00000361189.2	-	0	160				PJA2_ENST00000511624.1_5'UTR|PJA2_ENST00000361557.3_De_novo_Start_OutOfFrame	NM_014819.4	NP_055634.3	O43164	PJA2_HUMAN	praja ring finger 2, E3 ubiquitin protein ligase						long-term memory|regulation of protein kinase A signaling cascade	cell junction|endoplasmic reticulum membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	ligase activity|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21		all_cancers(142;4.4e-06)|all_epithelial(76;8.17e-08)|Prostate(80;0.00676)|Lung NSC(167;0.0436)|Ovarian(225;0.0443)|all_lung(232;0.053)|Colorectal(57;0.0946)|Breast(839;0.151)		OV - Ovarian serous cystadenocarcinoma(64;3.46e-10)|Epithelial(69;6.02e-09)|COAD - Colon adenocarcinoma(37;0.224)		acaagccgcagaagattccta	0.338													5	62					3.59834e-05	3.99423e-05	1	1	0	T	108719214	G	T	108719214	1	4	81	1	0	0	0	0	0	0	0	0	12010	957	33	4		4	PJA2	5	108719214	Translation_Start_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	585132	108719214	72196046	4545	8161											
MAN2A1	4124	broad.mit.edu	37	5	109117137	109117137	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:109117137A>G	ENST00000261483.4	+	9	2467	c.1415A>G	c.(1414-1416)gAt>gGt	p.D472G		NM_002372.2	NP_002363.2	Q16706	MA2A1_HUMAN	mannosidase, alpha, class 2A, member 1	472					mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)		GATGCGCTGGATAAAGCAGAT	0.333													5	49					0	0	1	0	0	G	109117137	A	G	109117137	3	3	81	1	0	0	0	0	1	0	0	0	9264	333	12	3	1449	3	MAN2A1	5	109117137	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	397923	109117137	71798123	4546	8162											
MAN2A1	4124	broad.mit.edu	37	5	109159458	109159458	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:109159458T>C	ENST00000261483.4	+	16	3538	c.2486T>C	c.(2485-2487)gTg>gCg	p.V829A		NM_002372.2	NP_002363.2	Q16706	MA2A1_HUMAN	mannosidase, alpha, class 2A, member 1	829					mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)		TTTGTCAGAGTGACACATGGA	0.338													33	48					0	0	1	0	0	C	109159458	T	C	109159458	3	2	81	1	0	0	0	0	1	0	0	0	9264	1696	59	3	2548	3	MAN2A1	5	109159458	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	42321	109159458	71755802	4547	8163											
MAN2A1	4124	broad.mit.edu	37	5	109183481	109183481	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:109183481C>T	ENST00000261483.4	+	19	4018	c.2966C>T	c.(2965-2967)gCt>gTt	p.A989V		NM_002372.2	NP_002363.2	Q16706	MA2A1_HUMAN	mannosidase, alpha, class 2A, member 1	989					mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)		AAAAGAAGTGCTGTTAATACG	0.323													12	22					0	0	1	0	0	T	109183481	C	T	109183481	3	4	81	1	0	0	0	0	1	0	0	0	9264	797	28	2	3040	2	MAN2A1	5	109183481	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	24023	109183481	71731779	4548	8164											
SLC25A46	91137	broad.mit.edu	37	5	110082040	110082040	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:110082040A>C	ENST00000355943.3	+	4	581	c.455A>C	c.(454-456)aAa>aCa	p.K152T	SLC25A46_ENST00000513807.1_5'UTR|SLC25A46_ENST00000504098.1_Missense_Mutation_p.K6T|SLC25A46_ENST00000509442.2_Missense_Mutation_p.K61T|SLC25A46_ENST00000447245.2_Missense_Mutation_p.K152T	NM_138773.1	NP_620128.1	Q96AG3	S2546_HUMAN	solute carrier family 25, member 46	152					transport	integral to membrane|mitochondrial inner membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	10		all_cancers(142;0.00203)|all_epithelial(76;4.52e-05)|Prostate(80;0.0115)|Colorectal(57;0.0676)|Ovarian(225;0.156)		OV - Ovarian serous cystadenocarcinoma(64;2.58e-09)|Epithelial(69;7.29e-08)|all cancers(49;9.35e-06)|COAD - Colon adenocarcinoma(37;0.211)		AGTTTCAACAAAACTCAGGTG	0.289													7	58					0	0	1	0	0	C	110082040	A	C	110082040	3	2	81	1	0	0	0	0	1	0	0	0	14566	14	1	5	469	5	SLC25A46	5	110082040	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	898559	110082040	70833220	4549	8165											
SLC25A46	91137	broad.mit.edu	37	5	110092436	110092436	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:110092436G>A	ENST00000355943.3	+	7	781	c.655G>A	c.(655-657)Gca>Aca	p.A219T	SLC25A46_ENST00000513807.1_Missense_Mutation_p.A57T|SLC25A46_ENST00000504098.1_Missense_Mutation_p.A73T|SLC25A46_ENST00000509442.2_Missense_Mutation_p.A128T|SLC25A46_ENST00000509432.1_Missense_Mutation_p.A6T|SLC25A46_ENST00000513706.1_3'UTR|SLC25A46_ENST00000447245.2_Missense_Mutation_p.A219T	NM_138773.1	NP_620128.1	Q96AG3	S2546_HUMAN	solute carrier family 25, member 46	219					transport	integral to membrane|mitochondrial inner membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	10		all_cancers(142;0.00203)|all_epithelial(76;4.52e-05)|Prostate(80;0.0115)|Colorectal(57;0.0676)|Ovarian(225;0.156)		OV - Ovarian serous cystadenocarcinoma(64;2.58e-09)|Epithelial(69;7.29e-08)|all cancers(49;9.35e-06)|COAD - Colon adenocarcinoma(37;0.211)		TTTTTATTCAGCAAGTCTGAT	0.264													21	44					0	0	1	0	0	A	110092436	G	A	110092436	3	1	81	1	0	0	0	0	1	0	0	0	14566	971	34	2	681	2	SLC25A46	5	110092436	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	10396	110092436	70822824	4550	8166											
WDR36	134430	broad.mit.edu	37	5	110428061	110428061	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:110428061C>T	ENST00000506538.2	+	1	648	c.75C>T	c.(73-75)ctC>ctT	p.L25L	WDR36_ENST00000505303.1_5'UTR|WDR36_ENST00000513710.2_Silent_p.L25L	NM_139281.2	NP_644810.1	Q8NI36	WDR36_HUMAN	WD repeat domain 36	25			L -> P (possible disease-susceptibility mutation).		response to stimulus|rRNA processing|visual perception	small-subunit processome				cervix(1)|endometrium(9)|kidney(4)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.72e-05)|all_epithelial(76;4.4e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0418)|Ovarian(225;0.0443)|Colorectal(57;0.0465)|all_lung(232;0.0508)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;1.39e-08)|Epithelial(69;1.82e-07)|all cancers(49;2.04e-05)|COAD - Colon adenocarcinoma(37;0.111)		GTCTGCAGCTCTGGCAGAGGA	0.587													34	58					0	0	1	0	0	T	110428061	C	T	110428061	2	4	81	1	0	0	0	0	0	0	0	1	17350	900	32	2		2	WDR36	5	110428061	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	335625	110428061	70487199	4551	8167											
WDR36	134430	broad.mit.edu	37	5	110441018	110441018	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:110441018T>G	ENST00000506538.2	+	10	1793	c.1220T>G	c.(1219-1221)tTt>tGt	p.F407C	WDR36_ENST00000505303.1_Missense_Mutation_p.F351C|WDR36_ENST00000513710.2_Missense_Mutation_p.F407C	NM_139281.2	NP_644810.1	Q8NI36	WDR36_HUMAN	WD repeat domain 36	407					response to stimulus|rRNA processing|visual perception	small-subunit processome				cervix(1)|endometrium(9)|kidney(4)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.72e-05)|all_epithelial(76;4.4e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0418)|Ovarian(225;0.0443)|Colorectal(57;0.0465)|all_lung(232;0.0508)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;1.39e-08)|Epithelial(69;1.82e-07)|all cancers(49;2.04e-05)|COAD - Colon adenocarcinoma(37;0.111)		CTTCAGTCATTTTCCACGGTA	0.348													8	82					0	0	1	0	0	G	110441018	T	G	110441018	3	3	81	1	0	0	0	0	1	0	0	0	17350	1841	64	5	1258	5	WDR36	5	110441018	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	12957	110441018	70474242	4552	8168											
WDR36	134430	broad.mit.edu	37	5	110448783	110448783	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:110448783C>A	ENST00000506538.2	+	16	2468	c.1895C>A	c.(1894-1896)cCt>cAt	p.P632H	WDR36_ENST00000513710.2_Missense_Mutation_p.P632H	NM_139281.2	NP_644810.1	Q8NI36	WDR36_HUMAN	WD repeat domain 36	632					response to stimulus|rRNA processing|visual perception	small-subunit processome				cervix(1)|endometrium(9)|kidney(4)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.72e-05)|all_epithelial(76;4.4e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0418)|Ovarian(225;0.0443)|Colorectal(57;0.0465)|all_lung(232;0.0508)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;1.39e-08)|Epithelial(69;1.82e-07)|all cancers(49;2.04e-05)|COAD - Colon adenocarcinoma(37;0.111)		GCTTTTAGTCCTGATGGTCGT	0.274													9	60					0.00448238	0.00470627	1	1	0	A	110448783	C	A	110448783	3	1	81	1	0	0	0	0	1	0	0	0	17350	681	24	4	1957	4	WDR36	5	110448783	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	7765	110448783	70466477	4553	8169											
WDR36	134430	broad.mit.edu	37	5	110461365	110461365	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:110461365C>T	ENST00000506538.2	+	22	3151	c.2578C>T	c.(2578-2580)Cga>Tga	p.R860*	WDR36_ENST00000513710.2_Nonsense_Mutation_p.R860*	NM_139281.2	NP_644810.1	Q8NI36	WDR36_HUMAN	WD repeat domain 36	860					response to stimulus|rRNA processing|visual perception	small-subunit processome				cervix(1)|endometrium(9)|kidney(4)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.72e-05)|all_epithelial(76;4.4e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0418)|Ovarian(225;0.0443)|Colorectal(57;0.0465)|all_lung(232;0.0508)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;1.39e-08)|Epithelial(69;1.82e-07)|all cancers(49;2.04e-05)|COAD - Colon adenocarcinoma(37;0.111)		AACAGAGCTGCGAAGCTTGTC	0.408													28	26					0	0	1	0	0	T	110461365	C	T	110461365	4	4	81	1	0	0	0	0	0	1	0	0	17350	760	27	1	2664	1	WDR36	5	110461365	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	12582	110461365	70453895	4554	8170											
CAMK4	814	broad.mit.edu	37	5	110784900	110784900	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:110784900C>T	ENST00000282356.4	+	7	1022	c.624C>T	c.(622-624)tgC>tgT	p.C208C	CAMK4_ENST00000512453.1_Splice_Site_p.C208C	NM_001744.4	NP_001735.1	Q16566	KCC4_HUMAN	calcium/calmodulin-dependent protein kinase IV	208	Protein kinase.				activation of phospholipase C activity|nerve growth factor receptor signaling pathway|synaptic transmission	cytosol|nucleoplasm	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	p.C208C(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	30		all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109)		CAGGGTACTGCGGTATGCTCT	0.274													6	25					0	0	1	0	0	T	110784900	C	T	110784900	5	4	81	1	0	0	0	0	0	0	1	0	2623	782	27	1	650	1	CAMK4	5	110784900	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	323535	110784900	70130360	4555	8171											
CAMK4	814	broad.mit.edu	37	5	110819737	110819737	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:110819737C>T	ENST00000282356.4	+	11	1393	c.995C>T	c.(994-996)gCt>gTt	p.A332V	CAMK4_ENST00000512890.1_3'UTR|CAMK4_ENST00000512453.1_Missense_Mutation_p.A332V	NM_001744.4	NP_001735.1	Q16566	KCC4_HUMAN	calcium/calmodulin-dependent protein kinase IV	332	Calmodulin-binding (Potential).				activation of phospholipase C activity|nerve growth factor receptor signaling pathway|synaptic transmission	cytosol|nucleoplasm	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	30		all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109)		GCGGTGAAGGCTGTGGTGGCC	0.557													19	30					0	0	1	0	0	T	110819737	C	T	110819737	3	4	81	1	0	0	0	0	1	0	0	0	2623	797	28	2	1037	2	CAMK4	5	110819737	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	34837	110819737	70095523	4556	8172											
EPB41L4A	64097	broad.mit.edu	37	5	111570340	111570340	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:111570340G>A	ENST00000261486.5	-	12	1354	c.1078C>T	c.(1078-1080)Cag>Tag	p.Q360*	RP11-526F3.1_ENST00000504004.1_RNA	NM_022140.3	NP_071423	Q9HCS5	E41LA_HUMAN	erythrocyte membrane protein band 4.1 like 4A	360						cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(2)|skin(1)	34		all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135)		OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791)		CCAGCTGGCTGTGTTTGTGCT	0.433													6	112					0	0	1	0	0	A	111570340	G	A	111570340	4	1	81	1	0	0	0	0	0	1	0	0	5183	1386	48	2	1030	2	EPB41L4A	5	111570340	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	750603	111570340	69344920	4557	8173											
EPB41L4A	64097	broad.mit.edu	37	5	111595639	111595639	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:111595639G>A	ENST00000261486.5	-	8	956	c.680C>T	c.(679-681)cCg>cTg	p.P227L		NM_022140.3	NP_071423	Q9HCS5	E41LA_HUMAN	erythrocyte membrane protein band 4.1 like 4A	227	FERM.					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(2)|skin(1)	34		all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135)		OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791)		AACACCAACCGGAGTTAATCC	0.363													34	56					0	0	1	0	0	A	111595639	G	A	111595639	3	1	81	1	0	0	0	0	1	0	0	0	5183	1116	39	1	1444	1	EPB41L4A	5	111595639	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	25299	111595639	69319621	4558	8174											
EPB41L4A	64097	broad.mit.edu	37	5	111643154	111643154	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:111643154C>T	ENST00000261486.5	-	2	409	c.133G>A	c.(133-135)Gta>Ata	p.V45I		NM_022140.3	NP_071423	Q9HCS5	E41LA_HUMAN	erythrocyte membrane protein band 4.1 like 4A	45	FERM.					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(2)|skin(1)	34		all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135)		OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791)		TGATGGAATACGTGGTCAAGG	0.383													17	23					0	0	1	0	0	T	111643154	C	T	111643154	3	4	81	1	0	0	0	0	1	0	0	0	5183	536	19	1	2015	1	EPB41L4A	5	111643154	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	47515	111643154	69272106	4559	8175											
APC	324	broad.mit.edu	37	5	112173300	112173300	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:112173300A>C	ENST00000457016.1	+	16	2389	c.2009A>C	c.(2008-2010)aAa>aCa	p.K670T	APC_ENST00000508376.2_Missense_Mutation_p.K670T|CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000257430.4_Missense_Mutation_p.K670T			P25054	APC_HUMAN	adenomatous polyposis coli	670	Leu-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		CAACACTTAAAATCTCATAGT	0.368		12	"D, Mis, N, F, S"		"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"	"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)			20	43					0	0	1	0	0	C	112173300	A	C	112173300	3	2	81	1	0	0	0	0	1	0	0	0	759	14	1	5	2067	5	APC	5	112173300	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	530146	112173300	68741960	4560	8176											
APC	324	broad.mit.edu	37	5	112176148	112176148	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:112176148A>G	ENST00000457016.1	+	16	5237	c.4857A>G	c.(4855-4857)ccA>ccG	p.P1619P	APC_ENST00000508376.2_Silent_p.P1619P|CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000257430.4_Silent_p.P1619P			P25054	APC_HUMAN	adenomatous polyposis coli	1619	Ser-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.K1192fs*3(1)|p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		AACTTCTACCATCACAAAACA	0.453		12	"D, Mis, N, F, S"		"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"	"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)			15	176					0	0	1	0	0	G	112176148	A	G	112176148	2	3	81	1	0	0	0	0	0	0	0	1	759	204	8	3		3	APC	5	112176148	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	2848	112176148	68739112	4561	8177											
MCC	4163	broad.mit.edu	37	5	112406886	112406886	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:112406886G>T	ENST00000302475.4	-	10	1823	c.1260C>A	c.(1258-1260)acC>acA	p.T420T	MCC_ENST00000515367.2_Silent_p.T357T|MCC_ENST00000514701.3_5'UTR|MCC_ENST00000408903.3_Silent_p.T610T	NM_002387.2	NP_002378	P23508	CRCM_HUMAN	mutated in colorectal cancers	420					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane	protein binding|receptor activity			endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		ATTCCTCCAAGGTTATGGTCA	0.463													14	133					0.146539	0.148881	1	1	0	T	112406886	G	T	112406886	2	4	81	1	0	0	0	0	0	0	0	1	9423	987	35	4		4	MCC	5	112406886	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	230738	112406886	68508374	4562	8178											
MCC	4163	broad.mit.edu	37	5	112406897	112406897	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:112406897G>T	ENST00000302475.4	-	10	1812	c.1249C>A	c.(1249-1251)Ctg>Atg	p.L417M	MCC_ENST00000515367.2_Missense_Mutation_p.L354M|MCC_ENST00000514701.3_5'UTR|MCC_ENST00000408903.3_Missense_Mutation_p.L607M	NM_002387.2	NP_002378	P23508	CRCM_HUMAN	mutated in colorectal cancers	417					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane	protein binding|receptor activity			endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		GTTATGGTCAGGAGGTCATTT	0.453													41	103					3.38236e-24	4.4635e-24	1	1	0	T	112406897	G	T	112406897	3	4	81	1	0	0	0	0	1	0	0	0	9423	991	35	4	1272	4	MCC	5	112406897	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	11	112406897	68508363	4563	8179											
MCC	4163	broad.mit.edu	37	5	112418619	112418619	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:112418619G>A	ENST00000302475.4	-	9	1715	c.1152C>T	c.(1150-1152)caC>caT	p.H384H	MCC_ENST00000515367.2_Silent_p.H321H|MCC_ENST00000514701.3_5'UTR|MCC_ENST00000408903.3_Silent_p.H574H	NM_002387.2	NP_002378	P23508	CRCM_HUMAN	mutated in colorectal cancers	384					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane	protein binding|receptor activity			endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		TGGCAGATCCGTGTGAGTAGA	0.483													32	55					0	0	1	0	0	A	112418619	G	A	112418619	2	1	81	1	0	0	0	0	0	0	0	1	9423	1136	40	1		1	MCC	5	112418619	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	11722	112418619	68496641	4564	8180											
YTHDC2	64848	broad.mit.edu	37	5	112926833	112926833	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:112926833G>T	ENST00000161863.4	+	27	4134	c.3921G>T	c.(3919-3921)aaG>aaT	p.K1307N		NM_022828.3	NP_073739.3	Q9H6S0	YTDC2_HUMAN	YTH domain containing 2	1307	YTH.						ATP binding|ATP-dependent helicase activity|nucleic acid binding			NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)		CTCAACAGAAGGGTATCTGGT	0.403													14	113					1.49906e-05	1.6816e-05	1	1	0	T	112926833	G	T	112926833	3	4	81	1	0	0	0	0	1	0	0	0	17557	991	35	4	4027	4	YTHDC2	5	112926833	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	508214	112926833	67988427	4565	8181											
YTHDC2	64848	broad.mit.edu	37	5	112927863	112927863	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:112927863C>T	ENST00000161863.4	+	28	4413	c.4200C>T	c.(4198-4200)agC>agT	p.S1400S		NM_022828.3	NP_073739.3	Q9H6S0	YTDC2_HUMAN	YTH domain containing 2	1400	YTH.						ATP binding|ATP-dependent helicase activity|nucleic acid binding			NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)		TGCAGATAAGCAGGGATGGGC	0.358													8	13					0	0	1	0	0	T	112927863	C	T	112927863	2	4	81	1	0	0	0	0	0	0	0	1	17557	709	25	2		2	YTHDC2	5	112927863	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1030	112927863	67987397	4566	8182											
KCNN2	3781	broad.mit.edu	37	5	113831667	113831667	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:113831667C>A	ENST00000512097.3	+	9	2546	c.1528C>A	c.(1528-1530)Ctg>Atg	p.L510M	KCNN2_ENST00000503706.1_Missense_Mutation_p.L162M|KCNN2_ENST00000264773.3_Missense_Mutation_p.L510M|RP11-492A10.1_ENST00000514115.1_RNA			Q9H2S1	KCNN2_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2	510						integral to membrane	calmodulin binding|small conductance calcium-activated potassium channel activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)		GATTGTTACCCTGGAAACAAA	0.448													9	101					7.48243e-07	8.64403e-07	1	1	0	A	113831667	C	A	113831667	3	1	81	1	0	0	0	0	1	0	0	0	8123	680	24	4	1558	4	KCNN2	5	113831667	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	903804	113831667	67083593	4567	8183											
PGGT1B	5229	broad.mit.edu	37	5	114573601	114573601	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:114573601C>A	ENST00000419445.1	-	4	453	c.433G>T	c.(433-435)Gaa>Taa	p.E145*	PGGT1B_ENST00000379615.3_Nonsense_Mutation_p.E145*	NM_005023.3	NP_005014.2	P53609	PGTB1_HUMAN	protein geranylgeranyltransferase type I, beta subunit	145					protein geranylgeranylation	CAAX-protein geranylgeranyltransferase complex	CAAX-protein geranylgeranyltransferase activity			breast(2)|endometrium(1)|large_intestine(2)|lung(1)	6		all_cancers(142;0.000523)|all_epithelial(76;6.45e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)		Epithelial(69;2.95e-08)|OV - Ovarian serous cystadenocarcinoma(64;4.98e-08)|all cancers(49;3.1e-06)	Pravastatin(DB00175)	AAGCAAGCTTCTTTATTTACT	0.408													13	109					2.31682e-05	2.58805e-05	1	1	0	A	114573601	C	A	114573601	4	1	81	1	0	0	0	0	0	1	0	0	11837	922	32	4	724	4	PGGT1B	5	114573601	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	741934	114573601	66341659	4568	8184											
CCDC112	153733	broad.mit.edu	37	5	114604589	114604589	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:114604589T>C	ENST00000379611.5	-	9	1824	c.1537A>G	c.(1537-1539)Atc>Gtc	p.I513V	CCDC112_ENST00000512261.1_Missense_Mutation_p.I430V|CCDC112_ENST00000395557.4_Missense_Mutation_p.I430V|CCDC112_ENST00000506442.1_Missense_Mutation_p.I398V	NM_001040440.2	NP_001035530.1	Q8NEF3	CC112_HUMAN	coiled-coil domain containing 112	430										endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|skin(1)	20		all_cancers(142;0.000523)|all_epithelial(76;6.44e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;4.09e-08)|Epithelial(69;5.28e-08)|all cancers(49;7.06e-06)		CTATGTGGGATATGTAGAAGT	0.353													7	68					0	0	1	0	0	C	114604589	T	C	114604589	3	2	81	1	0	0	0	0	1	0	0	0	2767	1406	49	3	60	3	CCDC112	5	114604589	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	30988	114604589	66310671	4569	8185											
CCDC112	153733	broad.mit.edu	37	5	114610915	114610916	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:114610915_114610916insT	ENST00000379611.5	-	6	1202_1203	c.915_916insA	c.(913-918)aaagagfs	p.E306fs	CCDC112_ENST00000506442.1_Frame_Shift_Ins_p.E223fs|CCDC112_ENST00000512261.1_Frame_Shift_Ins_p.E223fs|CCDC112_ENST00000395557.4_Frame_Shift_Ins_p.E223fs	NM_001040440.2	NP_001035530.1	Q8NEF3	CC112_HUMAN	coiled-coil domain containing 112	223								p.E306fs*20(1)		endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|skin(1)	20		all_cancers(142;0.000523)|all_epithelial(76;6.44e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;4.09e-08)|Epithelial(69;5.28e-08)|all cancers(49;7.06e-06)		ATTATTACCTCTTTTTTTCTTT	0.332													11	29	---	---	---	---						T	114610916	-	T	114610915	7	5	81	1	0	1	1	0	0	0	0	0	2767	922	32	0	693	0	CCDC112	5	114610915	Frame_Shift_Ins	INS	-	TCGA-DU-6392-01A-11D-1705-08	6326	114610915	66304345	4570	8186											
FEM1C	56929	broad.mit.edu	37	5	114860793	114860793	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:114860793G>A	ENST00000274457.3	-	3	1627	c.1066C>T	c.(1066-1068)Cga>Tga	p.R356*		NM_020177.2	NP_064562.1	Q96JP0	FEM1C_HUMAN	fem-1 homolog c (C. elegans)	356						cytoplasm				breast(5)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	18		all_cancers(142;0.000575)|all_epithelial(76;9.98e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;2.5e-07)|Epithelial(69;2.66e-07)|all cancers(49;1.39e-05)		TTGATGCATCGTTTGAAATTT	0.403													52	84					0	0	1	0	0	A	114860793	G	A	114860793	4	1	81	1	0	0	0	0	0	1	0	0	5844	1153	40	1	791	1	FEM1C	5	114860793	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	249878	114860793	66054467	4571	8187											
SEMA6A	57556	broad.mit.edu	37	5	115783357	115783357	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:115783357G>A	ENST00000343348.6	-	19	2832	c.2045C>T	c.(2044-2046)gCt>gTt	p.A682V	SEMA6A_ENST00000503865.1_Missense_Mutation_p.A61V|SEMA6A_ENST00000282394.6_Missense_Mutation_p.A159V|CTB-118N6.3_ENST00000508424.1_RNA|SEMA6A_ENST00000513137.1_Missense_Mutation_p.A109V|CTB-118N6.3_ENST00000512128.1_RNA|SEMA6A_ENST00000510263.1_Missense_Mutation_p.A682V|SEMA6A_ENST00000257414.8_Missense_Mutation_p.A699V	NM_020796.3	NP_065847	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A	682					apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis	axon|integral to membrane|plasma membrane	receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)		CTGCACCACAGCCACGTCTTT	0.607													23	32					0	0	1	0	0	A	115783357	G	A	115783357	3	1	81	1	0	0	0	0	1	0	0	0	14093	971	34	2	1051	2	SEMA6A	5	115783357	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	922564	115783357	65131903	4572	8188											
SEMA6A	57556	broad.mit.edu	37	5	115837950	115837950	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:115837950G>A	ENST00000343348.6	-	3	961	c.174C>T	c.(172-174)atC>atT	p.I58I	SEMA6A_ENST00000503962.1_5'UTR|SEMA6A_ENST00000510263.1_Silent_p.I58I|CTB-118N6.3_ENST00000510682.1_RNA|SEMA6A_ENST00000257414.8_Silent_p.I58I	NM_020796.3	NP_065847	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A	58	Sema.				apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis	axon|integral to membrane|plasma membrane	receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)		TAATCATCTGGATGTCCAGCC	0.507													62	74					0	0	1	0	0	A	115837950	G	A	115837950	2	1	81	1	0	0	0	0	0	0	0	1	14093	1164	41	2		2	SEMA6A	5	115837950	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	54593	115837950	65077310	4573	8189											
DTWD2	285605	broad.mit.edu	37	5	118264322	118264322	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:118264322A>G	ENST00000304058.4	-	4	379	c.309T>C	c.(307-309)gtT>gtC	p.V103V	DTWD2_ENST00000510708.1_Silent_p.V169V|DTWD2_ENST00000515439.3_Intron			Q8NBA8	DTWD2_HUMAN	DTW domain containing 2	169										breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)	13		all_epithelial(76;0.0982)|Prostate(80;0.121)		OV - Ovarian serous cystadenocarcinoma(64;0.000228)|Epithelial(69;0.000941)|all cancers(49;0.00939)		TAGAAGGATAAACAGGAGAAT	0.383													8	96					0	0	1	0	0	G	118264322	A	G	118264322	2	3	81	1	0	0	0	0	0	0	0	1	4818	1	1	3		3	DTWD2	5	118264322	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	2426372	118264322	62650938	4574	8190											
DMXL1	1657	broad.mit.edu	37	5	118484689	118484689	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:118484689G>A	ENST00000311085.8	+	18	3247	c.3167G>A	c.(3166-3168)cGt>cAt	p.R1056H	DMXL1_ENST00000539542.1_Missense_Mutation_p.R1056H	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	1056										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		CATACAAATCGTTTAGCAGTA	0.403													62	100					0	0	1	0	0	A	118484689	G	A	118484689	3	1	81	1	0	0	0	0	1	0	0	0	4622	1145	40	1	3237	1	DMXL1	5	118484689	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	220367	118484689	62430571	4575	8191											
DMXL1	1657	broad.mit.edu	37	5	118484954	118484954	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:118484954G>A	ENST00000311085.8	+	18	3512	c.3432G>A	c.(3430-3432)tgG>tgA	p.W1144*	DMXL1_ENST00000539542.1_Nonsense_Mutation_p.W1144*	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	1144										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		ACTTAGATTGGATGTCTAGAG	0.368													31	67					0	0	1	0	0	A	118484954	G	A	118484954	4	1	81	1	0	0	0	0	0	1	0	0	4622	1183	41	2	3502	2	DMXL1	5	118484954	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	265	118484954	62430306	4576	8192											
DMXL1	1657	broad.mit.edu	37	5	118500881	118500881	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:118500881G>T	ENST00000311085.8	+	21	4956	c.4876G>T	c.(4876-4878)Gct>Tct	p.A1626S	DMXL1_ENST00000539542.1_Missense_Mutation_p.A1626S	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	1626										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		ATTATAGGTAGCTAAAGCAGC	0.313													12	28					7.03913e-09	8.42519e-09	1	1	0	T	118500881	G	T	118500881	3	4	81	1	0	0	0	0	1	0	0	0	4622	971	34	4	4958	4	DMXL1	5	118500881	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	15927	118500881	62414379	4577	8193											
DMXL1	1657	broad.mit.edu	37	5	118500926	118500927	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:118500926_118500927insT	ENST00000311085.8	+	21	5001_5002	c.4921_4922insT	c.(4921-4923)attfs	p.I1641fs	DMXL1_ENST00000539542.1_Frame_Shift_Ins_p.I1641fs	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	1641										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		AGATGCTGCCATTTTTTACCTT	0.302													23	45	---	---	---	---						T	118500927	-	T	118500926	7	5	81	1	0	1	1	0	0	0	0	0	4622	217	8	0	5003	0	DMXL1	5	118500926	Frame_Shift_Ins	INS	-	TCGA-DU-6392-01A-11D-1705-08	45	118500926	62414334	4578	8194											
DMXL1	1657	broad.mit.edu	37	5	118500956	118500956	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:118500956G>A	ENST00000311085.8	+	21	5031	c.4951G>A	c.(4951-4953)Gtg>Atg	p.V1651M	DMXL1_ENST00000539542.1_Missense_Mutation_p.V1651M	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	1651										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		AAAGAAAGCTGTGATTTGGGG	0.299													11	27					0	0	1	0	0	A	118500956	G	A	118500956	3	1	81	1	0	0	0	0	1	0	0	0	4622	1377	48	2	5033	2	DMXL1	5	118500956	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	30	118500956	62414304	4579	8195											
DMXL1	1657	broad.mit.edu	37	5	118502316	118502316	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:118502316delA	ENST00000311085.8	+	22	5056	c.4976delA	c.(4975-4977)gaafs	p.E1659fs	DMXL1_ENST00000539542.1_Frame_Shift_Del_p.E1659fs	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	1659										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		TATAGAGCTGAAAAAAACACC	0.318													33	54	---	---	---	---						-	118502316	A	-	118502316	7	5	81	1	0	1	0	1	0	0	0	0	4622	246	9	0	5062	0	DMXL1	5	118502316	Frame_Shift_Del	DEL	A	TCGA-DU-6392-01A-11D-1705-08	1360	118502316	62412944	4580	8196											
DMXL1	1657	broad.mit.edu	37	5	118503347	118503347	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:118503347G>A	ENST00000311085.8	+	23	5266	c.5186G>A	c.(5185-5187)aGa>aAa	p.R1729K	DMXL1_ENST00000539542.1_Missense_Mutation_p.R1729K	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	1729										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		GTAATAGCAAGACTCTATGAG	0.318													9	21					0	0	1	0	0	A	118503347	G	A	118503347	3	1	81	1	0	0	0	0	1	0	0	0	4622	942	33	2	5276	2	DMXL1	5	118503347	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1031	118503347	62411913	4581	8197											
DMXL1	1657	broad.mit.edu	37	5	118506838	118506839	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:118506838_118506839insA	ENST00000311085.8	+	24	6432_6433	c.6352_6353insA	c.(6352-6354)gaafs	p.E2118fs	DMXL1_ENST00000539542.1_Frame_Shift_Ins_p.E2118fs	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	2118										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		AAATTTTCAGGAAAAAAGACAG	0.386													29	63	---	---	---	---						A	118506839	-	A	118506838	7	5	81	1	0	1	1	0	0	0	0	0	4622	1175	41	0	6446	0	DMXL1	5	118506838	Frame_Shift_Ins	INS	-	TCGA-DU-6392-01A-11D-1705-08	3491	118506838	62408422	4582	8198											
DMXL1	1657	broad.mit.edu	37	5	118556191	118556191	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:118556191G>A	ENST00000311085.8	+	35	8055	c.7975G>A	c.(7975-7977)Gct>Act	p.A2659T	DMXL1_ENST00000539542.1_Missense_Mutation_p.A2680T|DMXL1_ENST00000505312.1_3'UTR	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	2659										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		CATAGCAATCGCTTCCAGTCA	0.373													18	27					0	0	1	0	0	A	118556191	G	A	118556191	3	1	81	1	0	0	0	0	1	0	0	0	4622	1087	38	1	8113	1	DMXL1	5	118556191	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	49353	118556191	62359069	4583	8199											
DMXL1	1657	broad.mit.edu	37	5	118556656	118556656	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:118556656A>G	ENST00000311085.8	+	36	8174	c.8094A>G	c.(8092-8094)atA>atG	p.I2698M	DMXL1_ENST00000539542.1_Missense_Mutation_p.I2719M|DMXL1_ENST00000505312.1_3'UTR	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	2698										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		TCTTGGTTATACATGCTCGTG	0.353													23	47					0	0	1	0	0	G	118556656	A	G	118556656	3	3	81	1	0	0	0	0	1	0	0	0	4622	381	14	3	8236	3	DMXL1	5	118556656	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	465	118556656	62358604	4584	8200											
ZNF474	133923	broad.mit.edu	37	5	121487888	121487888	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:121487888T>C	ENST00000296600.4	+	2	586	c.203T>C	c.(202-204)cTa>cCa	p.L68P	CTC-441N14.2_ENST00000504829.1_RNA|ZNF474_ENST00000514925.1_Intron	NM_207317.1	NP_997200.1	Q6S9Z5	ZN474_HUMAN	zinc finger protein 474	68						intracellular	zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|stomach(1)	21		all_cancers(142;0.229)|Prostate(80;0.0387)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000197)|Epithelial(69;0.00029)|all cancers(49;0.00415)		ACTGTGATACTATCAAAACTG	0.468													16	162					0	0	1	0	0	C	121487888	T	C	121487888	3	2	81	1	0	0	0	0	1	0	0	0	17989	1522	53	3	205	3	ZNF474	5	121487888	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	2931232	121487888	59427372	4585	8201											
PPIC	5480	broad.mit.edu	37	5	122365005	122365005	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:122365005C>A	ENST00000306442.4	-	2	341	c.226G>T	c.(226-228)Gga>Tga	p.G76*		NM_000943.4	NP_000934.1	P45877	PPIC_HUMAN	peptidylprolyl isomerase C (cyclophilin C)	76	PPIase cyclophilin-type.				protein folding|signal transduction	cytoplasm	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity|unfolded protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	6		all_cancers(142;0.0168)|Prostate(80;0.0322)|Lung NSC(810;0.102)|all_lung(232;0.163)	KIRC - Kidney renal clear cell carcinoma(527;0.0897)|Kidney(363;0.137)	OV - Ovarian serous cystadenocarcinoma(64;0.000331)|Epithelial(69;0.000553)|all cancers(49;0.00505)	L-Proline(DB00172)	CATACCTCTCCTGTTGCTAGA	0.353													30	55					5.60225e-13	7.04216e-13	1	1	0	A	122365005	C	A	122365005	4	1	81	1	0	0	0	0	0	1	0	0	12369	690	24	4	428	4	PPIC	5	122365005	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	877117	122365005	58550255	4586	8202											
CEP120	153241	broad.mit.edu	37	5	122718703	122718703	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:122718703T>C	ENST00000306467.5	-	12	2141	c.1837A>G	c.(1837-1839)Att>Gtt	p.I613V	CEP120_ENST00000306481.6_Missense_Mutation_p.I587V|CEP120_ENST00000328236.5_Missense_Mutation_p.I613V			Q8N960	CE120_HUMAN	centrosomal protein 120kDa	613						centrosome				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	29						GAGATAAAAATCTCACGCATT	0.279													15	21					0	0	1	0	0	C	122718703	T	C	122718703	3	2	81	1	0	0	0	0	1	0	0	0	3268	1435	50	3	1159	3	CEP120	5	122718703	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	353698	122718703	58196557	4587	8203											
CSNK1G3	1456	broad.mit.edu	37	5	122950078	122950078	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:122950078G>A	ENST00000395412.1	+	14	2075	c.1356G>A	c.(1354-1356)caG>caA	p.Q452Q	CSNK1G3_ENST00000345990.4_Silent_p.Q420Q|CSNK1G3_ENST00000512718.3_Silent_p.Q345Q|CSNK1G3_ENST00000510842.2_Silent_p.Q421Q|CSNK1G3_ENST00000360683.2_Silent_p.Q452Q|CSNK1G3_ENST00000395411.1_Silent_p.Q444Q|CSNK1G3_ENST00000521364.1_Silent_p.Q420Q|CSNK1G3_ENST00000361991.2_Silent_p.Q444Q|CSNK1G3_ENST00000511130.2_Silent_p.Q308Q			Q9Y6M4	KC1G3_HUMAN	casein kinase 1, gamma 3	444					Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(1)	15		all_cancers(142;0.0156)|Prostate(80;0.0322)|Lung NSC(810;0.245)	KIRC - Kidney renal clear cell carcinoma(527;0.165)|Kidney(363;0.229)	OV - Ovarian serous cystadenocarcinoma(64;0.000121)|Epithelial(69;0.000227)|all cancers(49;0.00176)		AAACCATACAGCGCCACAAAT	0.388													9	47					0	0	1	0	0	A	122950078	G	A	122950078	2	1	81	1	0	0	0	0	0	0	0	1	3981	962	34	2		2	CSNK1G3	5	122950078	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	231375	122950078	57965182	4588	8204											
ZNF608	57507	broad.mit.edu	37	5	123982844	123982844	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:123982844A>G	ENST00000306315.5	-	4	3668	c.3233T>C	c.(3232-3234)cTt>cCt	p.L1078P	ZNF608_ENST00000504926.1_Missense_Mutation_p.L651P	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	1078						intracellular	zinc ion binding			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		GCCATAATAAAGTGACTGAGC	0.483													21	34					0	0	1	0	0	G	123982844	A	G	123982844	3	3	81	1	0	0	0	0	1	0	0	0	18091	72	3	3	1329	3	ZNF608	5	123982844	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	1032766	123982844	56932416	4589	8205											
ZNF608	57507	broad.mit.edu	37	5	123983871	123983871	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:123983871G>A	ENST00000306315.5	-	4	2641	c.2206C>T	c.(2206-2208)Cgg>Tgg	p.R736W	ZNF608_ENST00000504926.1_Missense_Mutation_p.R309W	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	736						intracellular	zinc ion binding			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		GCAATGGGCCGGGCACTTTTC	0.493													7	12					0	0	1	0	0	A	123983871	G	A	123983871	3	1	81	1	0	0	0	0	1	0	0	0	18091	1115	39	1	2356	1	ZNF608	5	123983871	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1027	123983871	56931389	4590	8206											
ZNF608	57507	broad.mit.edu	37	5	124080282	124080282	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:124080282C>T	ENST00000306315.5	-	1	836	c.401G>A	c.(400-402)gGc>gAc	p.G134D		NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	134						intracellular	zinc ion binding			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		CTGCCTCTTGCCAGTGCTGCT	0.527													24	31					0	0	1	0	0	T	124080282	C	T	124080282	3	4	81	1	0	0	0	0	1	0	0	0	18091	739	26	2	4173	2	ZNF608	5	124080282	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	96411	124080282	56834978	4591	8207											
ALDH7A1	501	broad.mit.edu	37	5	125894979	125894979	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:125894979C>T	ENST00000409134.3	-	11	1180	c.961G>A	c.(961-963)Gct>Act	p.A321T	ALDH7A1_ENST00000447989.2_Missense_Mutation_p.A348T|ALDH7A1_ENST00000553117.1_Missense_Mutation_p.A321T	NM_001182.4|NM_001201377.1	NP_001173.2|NP_001188306.1	P49419	AL7A1_HUMAN	aldehyde dehydrogenase 7 family, member A1	321					cellular aldehyde metabolic process|lysine catabolic process|sensory perception of sound	cytosol|mitochondrial matrix|nucleus	aldehyde dehydrogenase (NAD) activity|betaine-aldehyde dehydrogenase activity|L-aminoadipate-semialdehyde dehydrogenase activity			endometrium(1)|kidney(4)|large_intestine(4)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	16		all_cancers(142;0.24)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.0584)|Kidney(363;0.0934)	Epithelial(69;0.0417)|OV - Ovarian serous cystadenocarcinoma(64;0.068)|all cancers(49;0.109)	NADH(DB00157)|Pyridoxine(DB00165)	CCCACAGCAGCGAAGAGAGCT	0.478													14	19					0	0	1	0	0	T	125894979	C	T	125894979	3	4	81	1	0	0	0	0	1	0	0	0	501	768	27	1	690	1	ALDH7A1	5	125894979	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1814697	125894979	55020281	4592	8208											
PHAX	51808	broad.mit.edu	37	5	125939420	125939420	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:125939420G>T	ENST00000297540.4	+	2	950	c.255G>T	c.(253-255)caG>caT	p.Q85H	PHAX_ENST00000514725.1_3'UTR	NM_032177.3	NP_115553.2	Q9H814	PHAX_HUMAN	phosphorylated adaptor for RNA export	85	Necessary for interaction with CBP80 (By similarity).				ncRNA metabolic process|protein transport|snRNA export from nucleus|spliceosomal snRNP assembly	Cajal body|cytosol	RNA binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	8						GCAAACGACAGAAATGTTTTA	0.423													12	122					9.05144e-12	1.12483e-11	1	1	0	T	125939420	G	T	125939420	3	4	81	1	0	0	0	0	1	0	0	0	11861	933	33	4	261	4	PHAX	5	125939420	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	44441	125939420	54975840	4593	8209											
PHAX	51808	broad.mit.edu	37	5	125939431	125939431	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:125939431A>G	ENST00000297540.4	+	2	961	c.266A>G	c.(265-267)aAc>aGc	p.N89S	PHAX_ENST00000514725.1_3'UTR	NM_032177.3	NP_115553.2	Q9H814	PHAX_HUMAN	phosphorylated adaptor for RNA export	89	Necessary for interaction with CBP80 (By similarity).				ncRNA metabolic process|protein transport|snRNA export from nucleus|spliceosomal snRNP assembly	Cajal body|cytosol	RNA binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	8						AAATGTTTTAACCCTCCTCCC	0.433													8	120					0	0	1	0	0	G	125939431	A	G	125939431	3	3	81	1	0	0	0	0	1	0	0	0	11861	43	2	3	272	3	PHAX	5	125939431	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	11	125939431	54975829	4594	8210											
C5orf48	389320	broad.mit.edu	37	5	125967480	125967480	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:125967480C>A	ENST00000357147.3	+	1	67	c.54C>A	c.(52-54)tgC>tgA	p.C18*		NM_207408.1	NP_997291.1	Q6ZNM6	CE048_HUMAN	chromosome 5 open reading frame 48	18										large_intestine(1)|lung(1)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	7						CTAACAACTGCTCTGATGAGA	0.398													26	54					9.57634e-11	1.17731e-10	1	1	0	A	125967480	C	A	125967480	4	1	81	1	0	0	0	0	0	1	0	0	2321	805	28	4	56	4	C5orf48	5	125967480	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	28049	125967480	54947780	4595	8211											
C5orf48	389320	broad.mit.edu	37	5	125967491	125967491	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:125967491G>T	ENST00000357147.3	+	1	78	c.65G>T	c.(64-66)aGt>aTt	p.S22I		NM_207408.1	NP_997291.1	Q6ZNM6	CE048_HUMAN	chromosome 5 open reading frame 48	22										large_intestine(1)|lung(1)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	7						TCTGATGAGAGTCTCTATAAA	0.393													21	51					3.51602e-12	4.38715e-12	1	1	0	T	125967491	G	T	125967491	3	4	81	1	0	0	0	0	1	0	0	0	2321	1029	36	4	67	4	C5orf48	5	125967491	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	11	125967491	54947769	4596	8212											
MEGF10	84466	broad.mit.edu	37	5	126674846	126674846	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:126674846C>A	ENST00000274473.6	+	4	418	c.151C>A	c.(151-153)Ccc>Acc	p.P51T	MEGF10_ENST00000503335.2_Missense_Mutation_p.P51T|MEGF10_ENST00000508365.1_Missense_Mutation_p.P51T|MEGF10_ENST00000418761.2_Missense_Mutation_p.P51T	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10	51	EMI.|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)		ATACCCACATCCCTTTGATCA	0.358													11	93					2.68362e-12	3.3506e-12	1	1	0	A	126674846	C	A	126674846	3	1	81	1	0	0	0	0	1	0	0	0	9510	855	30	5	157	5	MEGF10	5	126674846	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	707355	126674846	54240414	4597	8213											
MEGF10	84466	broad.mit.edu	37	5	126676323	126676323	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:126676323G>A	ENST00000274473.6	+	5	586		c.e5+1		MEGF10_ENST00000503335.2_Splice_Site|MEGF10_ENST00000508365.1_Splice_Site|MEGF10_ENST00000418761.2_Splice_Site	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10						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)		ATGTGTGTCCGTAAGTAAGAC	0.488													22	36					0	0	1	0	0	A	126676323	G	A	126676323	5	1	81	1	0	0	0	0	0	0	1	0	9510	1159	40	1	330	1	MEGF10	5	126676323	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1477	126676323	54238937	4598	8214											
MEGF10	84466	broad.mit.edu	37	5	126781197	126781197	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:126781197C>A	ENST00000274473.6	+	21	2807	c.2540C>A	c.(2539-2541)aCt>aAt	p.T847N	MEGF10_ENST00000510828.1_Intron|MEGF10_ENST00000503335.2_Missense_Mutation_p.T847N	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10	847	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)		CGAACCAGTACTGCTCTCCCT	0.428													29	55					1.88708e-17	2.43564e-17	1	1	0	A	126781197	C	A	126781197	3	1	81	1	0	0	0	0	1	0	0	0	9510	565	20	4	2614	4	MEGF10	5	126781197	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	104874	126781197	54134063	4599	8215											
SLC12A2	6558	broad.mit.edu	37	5	127466827	127466827	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:127466827G>A	ENST00000262461.2	+	5	1306	c.1117G>A	c.(1117-1119)Gcc>Acc	p.A373T	SLC12A2_ENST00000343225.4_Missense_Mutation_p.A373T	NM_001046.2	NP_001037.1	P55011	S12A2_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 2	373					potassium ion transport|sodium ion transport|transepithelial ammonium transport|transepithelial chloride transport	integral to plasma membrane|membrane fraction	ammonia transmembrane transporter activity|sodium:potassium:chloride symporter activity			breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		all_cancers(142;0.0972)|Prostate(80;0.151)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	TCTAATCTTCGCCTTTGCCAA	0.398													60	98					0	0	1	0	0	A	127466827	G	A	127466827	3	1	81	1	0	0	0	0	1	0	0	0	14438	1087	38	1	1135	1	SLC12A2	5	127466827	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	685630	127466827	53448433	4600	8216											
SLC12A2	6558	broad.mit.edu	37	5	127466839	127466839	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:127466839G>A	ENST00000262461.2	+	5	1318	c.1129G>A	c.(1129-1131)Gct>Act	p.A377T	SLC12A2_ENST00000343225.4_Missense_Mutation_p.A377T	NM_001046.2	NP_001037.1	P55011	S12A2_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 2	377					potassium ion transport|sodium ion transport|transepithelial ammonium transport|transepithelial chloride transport	integral to plasma membrane|membrane fraction	ammonia transmembrane transporter activity|sodium:potassium:chloride symporter activity			breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		all_cancers(142;0.0972)|Prostate(80;0.151)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	CTTTGCCAACGCTGTTGCAGT	0.398													11	147					0	0	1	0	0	A	127466839	G	A	127466839	3	1	81	1	0	0	0	0	1	0	0	0	14438	1087	38	1	1147	1	SLC12A2	5	127466839	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	12	127466839	53448421	4601	8217											
SLC12A2	6558	broad.mit.edu	37	5	127503458	127503458	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:127503458T>C	ENST00000262461.2	+	18	2811	c.2622T>C	c.(2620-2622)gcT>gcC	p.A874A	SLC12A2_ENST00000343225.4_Silent_p.A874A	NM_001046.2	NP_001037.1	P55011	S12A2_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 2	874					potassium ion transport|sodium ion transport|transepithelial ammonium transport|transepithelial chloride transport	integral to plasma membrane|membrane fraction	ammonia transmembrane transporter activity|sodium:potassium:chloride symporter activity			breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		all_cancers(142;0.0972)|Prostate(80;0.151)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	TTTAGGCTGCTGGTCTTGGTC	0.338													28	54					0	0	1	0	0	C	127503458	T	C	127503458	2	2	81	1	0	0	0	0	0	0	0	1	14438	1567	55	3		3	SLC12A2	5	127503458	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	36619	127503458	53411802	4602	8218											
SLC12A2	6558	broad.mit.edu	37	5	127516592	127516592	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:127516592C>T	ENST00000262461.2	+	23	3307	c.3118C>T	c.(3118-3120)Cct>Tct	p.P1040S	SLC12A2_ENST00000507791.1_3'UTR|SLC12A2_ENST00000343225.4_Missense_Mutation_p.P1024S	NM_001046.2	NP_001037.1	P55011	S12A2_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 2	1040					potassium ion transport|sodium ion transport|transepithelial ammonium transport|transepithelial chloride transport	integral to plasma membrane|membrane fraction	ammonia transmembrane transporter activity|sodium:potassium:chloride symporter activity			breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		all_cancers(142;0.0972)|Prostate(80;0.151)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	CTTATTGATACCTTACCTTCT	0.323													32	73					0	0	1	0	0	T	127516592	C	T	127516592	3	4	81	1	0	0	0	0	1	0	0	0	14438	507	18	2	3208	2	SLC12A2	5	127516592	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	13134	127516592	53398668	4603	8219											
FBN2	2201	broad.mit.edu	37	5	127610311	127610311	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:127610311delC	ENST00000508053.1	-	66	8633	c.7659delG	c.(7657-7659)gggfs	p.G2553fs	FBN2_ENST00000262464.4_Frame_Shift_Del_p.G2553fs			P35556	FBN2_HUMAN	fibrillin 2	2553	EGF-like 43; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		TACAGGTAAACCCCCCCAGGG	0.423													37	56	---	---	---	---						-	127610311	C	-	127610311	7	5	81	1	0	1	0	1	0	0	0	0	5736	494	18	0	1103	0	FBN2	5	127610311	Frame_Shift_Del	DEL	C	TCGA-DU-6392-01A-11D-1705-08	93719	127610311	53304949	4604	8220											
FBN2	2201	broad.mit.edu	37	5	127641519	127641519	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:127641519A>G	ENST00000508053.1	-	49	6518	c.5544T>C	c.(5542-5544)tgT>tgC	p.C1848C	FBN2_ENST00000262464.4_Silent_p.C1848C			P35556	FBN2_HUMAN	fibrillin 2	1848	EGF-like 29; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		GATTACCTTCACAAACCAACA	0.358													9	93					0	0	1	0	0	G	127641519	A	G	127641519	2	3	81	1	0	0	0	0	0	0	0	1	5736	157	6	3		3	FBN2	5	127641519	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	31208	127641519	53273741	4605	8221											
FBN2	2201	broad.mit.edu	37	5	127674749	127674749	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:127674749G>A	ENST00000508053.1	-	32	4322	c.3348C>T	c.(3346-3348)atC>atT	p.I1116I	FBN2_ENST00000507835.1_5'UTR|FBN2_ENST00000262464.4_Silent_p.I1116I|FBN2_ENST00000508989.1_Silent_p.I1083I			P35556	FBN2_HUMAN	fibrillin 2	1116	EGF-like 16; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		TGCACTCGTCGATGTCTAATT	0.458													28	36					0	0	1	0	0	A	127674749	G	A	127674749	2	1	81	1	0	0	0	0	0	0	0	1	5736	1048	37	1		1	FBN2	5	127674749	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	33230	127674749	53240511	4606	8222											
FBN2	2201	broad.mit.edu	37	5	127680187	127680187	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:127680187T>C	ENST00000508053.1	-	31	4207	c.3233A>G	c.(3232-3234)aAa>aGa	p.K1078R	FBN2_ENST00000262464.4_Missense_Mutation_p.K1078R|FBN2_ENST00000508989.1_Missense_Mutation_p.K1045R			P35556	FBN2_HUMAN	fibrillin 2	1078	EGF-like 15; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		AGGAAATGCTTTGCATTCATT	0.398													15	86					0	0	1	0	0	C	127680187	T	C	127680187	3	2	81	1	0	0	0	0	1	0	0	0	5736	1841	64	3	5669	3	FBN2	5	127680187	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	5438	127680187	53235073	4607	8223											
FBN2	2201	broad.mit.edu	37	5	127702084	127702084	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:127702084G>A	ENST00000508053.1	-	23	3262	c.2288C>T	c.(2287-2289)aCt>aTt	p.T763I	FBN2_ENST00000262464.4_Missense_Mutation_p.T763I|FBN2_ENST00000508989.1_Missense_Mutation_p.T730I|FBN2_ENST00000511489.1_5'UTR			P35556	FBN2_HUMAN	fibrillin 2	763					bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		TCCATCCACAGTGATACCTAC	0.299													11	19					0	0	1	0	0	A	127702084	G	A	127702084	3	1	81	1	0	0	0	0	1	0	0	0	5736	1029	36	2	6646	2	FBN2	5	127702084	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	21897	127702084	53213176	4608	8224											
FBN2	2201	broad.mit.edu	37	5	127744372	127744372	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:127744372C>T	ENST00000508053.1	-	14	2047	c.1073G>A	c.(1072-1074)tGc>tAc	p.C358Y	FBN2_ENST00000262464.4_Missense_Mutation_p.C358Y|FBN2_ENST00000508989.1_Missense_Mutation_p.C325Y			P35556	FBN2_HUMAN	fibrillin 2	358	EGF-like 5; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		CTTACCGATGCATCGAGAGCC	0.418													24	32					0	0	1	0	0	T	127744372	C	T	127744372	3	4	81	1	0	0	0	0	1	0	0	0	5736	710	25	2	7897	2	FBN2	5	127744372	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	42288	127744372	53170888	4609	8225											
SLC27A6	28965	broad.mit.edu	37	5	128365298	128365298	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:128365298T>C	ENST00000262462.4	+	9	2591	c.1581T>C	c.(1579-1581)tcT>tcC	p.S527S	SLC27A6_ENST00000506176.1_Silent_p.S527S|SLC27A6_ENST00000395266.1_Silent_p.S527S			Q9Y2P4	S27A6_HUMAN	solute carrier family 27 (fatty acid transporter), member 6	527					long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process	integral to membrane|sarcolemma	fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding			NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		GAATGGCTTCTATTATTTTAA	0.284													19	41					0	0	1	0	0	C	128365298	T	C	128365298	2	2	81	1	0	0	0	0	0	0	0	1	14585	1509	53	3		3	SLC27A6	5	128365298	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	620926	128365298	52549962	4610	8226											
ADAMTS19	171019	broad.mit.edu	37	5	129070634	129070634	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:129070634A>G	ENST00000274487.4	+	22	3449	c.3304A>G	c.(3304-3306)Acc>Gcc	p.T1102A	CTC-575N7.1_ENST00000503616.1_RNA|ADAMTS19_ENST00000509467.1_3'UTR	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	1102	TSP type-1 5.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		GTGCTCAATTACCTGTGGCAA	0.358													31	31					0	0	1	0	0	G	129070634	A	G	129070634	3	3	81	1	0	0	0	0	1	0	0	0	263	391	14	3	3390	3	ADAMTS19	5	129070634	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	705336	129070634	51844626	4611	8227											
CHSY3	337876	broad.mit.edu	37	5	129241270	129241270	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:129241270T>C	ENST00000305031.4	+	1	1106	c.748T>C	c.(748-750)Tac>Cac	p.Y250H	CTC-575N7.1_ENST00000515569.1_RNA|CTC-575N7.1_ENST00000503616.1_RNA	NM_175856.4	NP_787052.3	Q70JA7	CHSS3_HUMAN	chondroitin sulfate synthase 3	250						Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.136)		GCACGACCACTACCTGGACAA	0.592													8	106					0	0	1	0	0	C	129241270	T	C	129241270	3	2	81	1	0	0	0	0	1	0	0	0	3435	1522	53	3	750	3	CHSY3	5	129241270	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	170636	129241270	51673990	4612	8228											
CHSY3	337876	broad.mit.edu	37	5	129520135	129520135	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:129520135C>T	ENST00000305031.4	+	3	1658	c.1300C>T	c.(1300-1302)Ctc>Ttc	p.L434F	CHSY3_ENST00000507545.1_3'UTR	NM_175856.4	NP_787052.3	Q70JA7	CHSS3_HUMAN	chondroitin sulfate synthase 3	434						Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.136)		GATGAGCAAGCTCAGTAACAC	0.488													9	40					0	0	1	0	0	T	129520135	C	T	129520135	3	4	81	1	0	0	0	0	1	0	0	0	3435	797	28	2	1310	2	CHSY3	5	129520135	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	278865	129520135	51395125	4613	8229											
CHSY3	337876	broad.mit.edu	37	5	129521469	129521469	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:129521469T>C	ENST00000305031.4	+	3	2992	c.2634T>C	c.(2632-2634)aaT>aaC	p.N878N		NM_175856.4	NP_787052.3	Q70JA7	CHSS3_HUMAN	chondroitin sulfate synthase 3	878						Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.136)		TCAGGTACAATCGAACTCTCT	0.393													26	33					0	0	1	0	0	C	129521469	T	C	129521469	2	2	81	1	0	0	0	0	0	0	0	1	3435	1432	50	3		3	CHSY3	5	129521469	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	1334	129521469	51393791	4614	8230											
RAPGEF6	51735	broad.mit.edu	37	5	130769276	130769276	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:130769276C>A	ENST00000509018.1	-	25	4026	c.3821G>T	c.(3820-3822)aGc>aTc	p.S1274I	CTC-432M15.3_ENST00000514667.1_Missense_Mutation_p.S1324I|RAPGEF6_ENST00000307984.5_Missense_Mutation_p.S1287I|RAPGEF6_ENST00000296859.6_Missense_Mutation_p.S1282I|RAPGEF6_ENST00000507093.1_Missense_Mutation_p.S1282I	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6	1274	Ser-rich.				Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		GCTCACGATGCTGGACCGTGA	0.483													15	29					1.3612e-06	1.56842e-06	1	1	0	A	130769276	C	A	130769276	3	1	81	1	0	0	0	0	1	0	0	0	13100	797	28	4	1000	4	RAPGEF6	5	130769276	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1247807	130769276	50145984	4615	8231											
RAPGEF6	51735	broad.mit.edu	37	5	130799818	130799818	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:130799818G>A	ENST00000509018.1	-	18	2601	c.2396C>T	c.(2395-2397)tCt>tTt	p.S799F	CTC-432M15.3_ENST00000514667.1_Missense_Mutation_p.S849F|RAPGEF6_ENST00000512052.1_Missense_Mutation_p.S514F|RAPGEF6_ENST00000307984.5_Missense_Mutation_p.S804F|RAPGEF6_ENST00000296859.6_Missense_Mutation_p.S799F|RAPGEF6_ENST00000510071.1_Missense_Mutation_p.S799F|RAPGEF6_ENST00000308008.6_Missense_Mutation_p.S799F|RAPGEF6_ENST00000507093.1_Missense_Mutation_p.S799F	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6	799	Ras-associating.				Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		AGGAGTAACAGAAACTTCACA	0.383													20	46					0	0	1	0	0	A	130799818	G	A	130799818	3	1	81	1	0	0	0	0	1	0	0	0	13100	942	33	2	2920	2	RAPGEF6	5	130799818	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	30542	130799818	50115442	4616	8232											
RAPGEF6	51735	broad.mit.edu	37	5	130815253	130815253	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:130815253C>T	ENST00000509018.1	-	16	2239	c.2034G>A	c.(2032-2034)aaG>aaA	p.K678K	CTC-432M15.3_ENST00000514667.1_Silent_p.K728K|RAPGEF6_ENST00000512052.1_Silent_p.K393K|RAPGEF6_ENST00000307984.5_Silent_p.K678K|RAPGEF6_ENST00000296859.6_Silent_p.K678K|RAPGEF6_ENST00000510071.1_Silent_p.K678K|RAPGEF6_ENST00000308008.6_Silent_p.K678K|RAPGEF6_ENST00000507093.1_Silent_p.K678K	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6	678					Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		TATCCAAAATCTTCCTGATTT	0.373													32	51					0	0	1	0	0	T	130815253	C	T	130815253	2	4	81	1	0	0	0	0	0	0	0	1	13100	912	32	2		2	RAPGEF6	5	130815253	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	15435	130815253	50100007	4617	8233											
RAPGEF6	51735	broad.mit.edu	37	5	130815437	130815437	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:130815437T>C	ENST00000509018.1	-	16	2055	c.1850A>G	c.(1849-1851)gAg>gGg	p.E617G	CTC-432M15.3_ENST00000514667.1_Missense_Mutation_p.E667G|RAPGEF6_ENST00000512052.1_Missense_Mutation_p.E332G|RAPGEF6_ENST00000307984.5_Missense_Mutation_p.E617G|RAPGEF6_ENST00000296859.6_Missense_Mutation_p.E617G|RAPGEF6_ENST00000510071.1_Missense_Mutation_p.E617G|RAPGEF6_ENST00000308008.6_Missense_Mutation_p.E617G|RAPGEF6_ENST00000507093.1_Missense_Mutation_p.E617G	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6	617					Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		AAAAAGTAACTCTTTGAACAC	0.328													8	69					0	0	1	0	0	C	130815437	T	C	130815437	3	2	81	1	0	0	0	0	1	0	0	0	13100	1551	54	3	3493	3	RAPGEF6	5	130815437	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	184	130815437	50099823	4618	8234											
FNIP1	96459	broad.mit.edu	37	5	131008547	131008547	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:131008547G>A	ENST00000307968.7	-	13	1505	c.1506C>T	c.(1504-1506)gaC>gaT	p.D502D	CTC-432M15.3_ENST00000514667.1_Intron|FNIP1_ENST00000510461.1_Silent_p.D530D|FNIP1_ENST00000307954.8_Silent_p.D485D	NM_001008738.2	NP_001008738			folliculin interacting protein 1											NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0665)		TCTGGACCATGTCTTGTCGTT	0.398													7	78					0	0	1	0	0	A	131008547	G	A	131008547	2	1	81	1	0	0	0	0	0	0	0	1	6008	1368	48	2		2	FNIP1	5	131008547	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	193110	131008547	49906713	4619	8235											
FNIP1	96459	broad.mit.edu	37	5	131014841	131014841	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:131014841C>T	ENST00000307968.7	-	11	1145	c.1146G>A	c.(1144-1146)atG>atA	p.M382I	CTC-432M15.3_ENST00000514667.1_Intron|FNIP1_ENST00000510461.1_Missense_Mutation_p.M410I|FNIP1_ENST00000307954.8_Missense_Mutation_p.M365I|FNIP1_ENST00000511848.1_Missense_Mutation_p.M410I	NM_001008738.2	NP_001008738			folliculin interacting protein 1											NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0665)		CAATTCGTGGCATCGTGTAAA	0.358													21	38					0	0	1	0	0	T	131014841	C	T	131014841	3	4	81	1	0	0	0	0	1	0	0	0	6008	710	25	2	2298	2	FNIP1	5	131014841	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	6294	131014841	49900419	4620	8236											
FNIP1	96459	broad.mit.edu	37	5	131039847	131039847	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:131039847C>A	ENST00000307968.7	-	9	942	c.943G>T	c.(943-945)Gat>Tat	p.D315Y	CTC-432M15.3_ENST00000514667.1_Intron|FNIP1_ENST00000510461.1_Missense_Mutation_p.D343Y|FNIP1_ENST00000307954.8_Missense_Mutation_p.D298Y|FNIP1_ENST00000511848.1_Missense_Mutation_p.D343Y	NM_001008738.2	NP_001008738			folliculin interacting protein 1											NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0665)		TTATTTTCATCTTCATCTTTG	0.343													21	47					5.35356e-11	6.60132e-11	1	1	0	A	131039847	C	A	131039847	3	1	81	1	0	0	0	0	1	0	0	0	6008	913	32	4	2509	4	FNIP1	5	131039847	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	25006	131039847	49875413	4621	8237											
IL3	3562	broad.mit.edu	37	5	131398222	131398222	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:131398222C>A	ENST00000296870.2	+	4	476	c.298C>A	c.(298-300)Ctc>Atc	p.L100I		NM_000588.3	NP_000579.2	P08700	IL3_HUMAN	interleukin 3 (colony-stimulating factor, multiple)	100					cell-cell signaling|immune response|nervous system development|positive regulation of cell proliferation|positive regulation of DNA replication|positive regulation of survival gene product expression|positive regulation of tyrosine phosphorylation of Stat5 protein	extracellular space	cytokine activity|growth factor activity|interleukin-3 receptor binding			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)	10		all_cancers(142;7.42e-12)|Lung NSC(810;4.25e-07)|all_lung(232;1.93e-06)|Prostate(281;0.00741)|Breast(839;0.0544)|Lung SC(612;0.122)|Ovarian(839;0.223)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	GBM - Glioblastoma multiforme(465;0.0161)|Lung(113;0.105)	Amlexanox(DB01025)	TCCACAGAATCTCCTGCCATG	0.607													7	209					0.0293803	0.0300537	1	1	0	A	131398222	C	A	131398222	3	1	81	1	0	0	0	0	1	0	0	0	7733	913	32	4	312	4	IL3	5	131398222	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	358375	131398222	49517038	4622	8238											
P4HA2	8974	broad.mit.edu	37	5	131554263	131554263	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:131554263C>T	ENST00000401867.1	-	3	625	c.57G>A	c.(55-57)gtG>gtA	p.V19V	P4HA2_ENST00000166534.4_Silent_p.V19V|P4HA2_ENST00000379086.1_Silent_p.V19V|P4HA2_ENST00000379100.2_Silent_p.V19V|P4HA2_ENST00000360568.3_Silent_p.V19V|P4HA2_ENST00000379104.2_Silent_p.V19V			O15460	P4HA2_HUMAN	prolyl 4-hydroxylase, alpha polypeptide II	19						endoplasmic reticulum lumen	electron carrier activity|iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity|protein binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		all_cancers(142;0.103)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		L-Proline(DB00172)|Succinic acid(DB00139)	ATTCGGCCTGCACACAGCTCA	0.527													4	13					0	0	1	0	0	T	131554263	C	T	131554263	2	4	81	1	0	0	0	0	0	0	0	1	11404	697	25	2		2	P4HA2	5	131554263	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	156041	131554263	49360997	4623	8239											
SLC22A4	6583	broad.mit.edu	37	5	131671563	131671563	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:131671563C>A	ENST00000200652.3	+	8	1488	c.1314C>A	c.(1312-1314)acC>acA	p.T438T	AC034220.3_ENST00000437091.1_RNA|AC034220.3_ENST00000417795.1_RNA	NM_003059.2	NP_003050.2	Q9H015	S22A4_HUMAN	solute carrier family 22 (organic cation/zwitterion transporter), member 4	438					body fluid secretion|sodium ion transport	apical plasma membrane|integral to plasma membrane|mitochondrion	ATP binding|carnitine transporter activity|cation:cation antiporter activity|PDZ domain binding|secondary active organic cation transmembrane transporter activity|symporter activity			endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|urinary_tract(1)	16		all_cancers(142;0.0752)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		L-Carnitine(DB00583)	TTGGGATCACCTCTGCTTTCT	0.488													7	194					0.00448238	0.00470627	1	1	0	A	131671563	C	A	131671563	2	1	81	1	0	0	0	0	0	0	0	1	14511	668	24	4		4	SLC22A4	5	131671563	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	117300	131671563	49243697	4624	8240											
SLC22A5	6584	broad.mit.edu	37	5	131722800	131722800	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:131722800C>T	ENST00000245407.3	+	5	1129	c.908C>T	c.(907-909)gCc>gTc	p.A303V	SLC22A5_ENST00000435065.2_Missense_Mutation_p.A327V	NM_003060.3	NP_003051.1	O76082	S22A5_HUMAN	solute carrier family 22 (organic cation/carnitine transporter), member 5	303					positive regulation of intestinal epithelial structure maintenance|quorum sensing involved in interaction with host|sodium ion transport|sodium-dependent organic cation transport	apical plasma membrane|brush border membrane|integral to membrane	ATP binding|carnitine transporter activity|PDZ domain binding|symporter activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|stomach(1)	8		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		L-Carnitine(DB00583)	GCTGCCAAAGCCAATGGGATT	0.552											OREG0016767	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	239					0	0	1	0	0	T	131722800	C	T	131722800	3	4	81	1	0	0	0	0	1	0	0	0	14512	739	26	2	926	2	SLC22A5	5	131722800	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	51237	131722800	49192460	4625	8241											
C5orf56	441108	broad.mit.edu	37	5	131796479	131796479	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:131796479G>A	ENST00000337752.2	+	4	445	c.314G>A	c.(313-315)tGc>tAc	p.C105Y	C5orf56_ENST00000378953.4_Intron|C5orf56_ENST00000407797.1_Intron			Q8N8D9	CE056_HUMAN	chromosome 5 open reading frame 56	105										breast(1)|endometrium(1)|large_intestine(1)|lung(3)	6						tggcagcaatgcagcagtgaa	0.418													7	5					0	0	1	0	0	A	131796479	G	A	131796479	3	1	81	1	0	0	0	0	1	0	0	0	2327	1319	46	2	324	2	C5orf56	5	131796479	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	73679	131796479	49118781	4626	8242											
IRF1	3659	broad.mit.edu	37	5	131819745	131819745	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:131819745C>A	ENST00000245414.4	-	10	1134	c.876G>T	c.(874-876)caG>caT	p.Q292H	IRF1_ENST00000405885.2_Missense_Mutation_p.Q292H	NM_002198.2	NP_002189.1	P10914	IRF1_HUMAN	interferon regulatory factor 1	292					blood coagulation|cellular response to mechanical stimulus|interferon-gamma-mediated signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	nucleoplasm				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|urinary_tract(1)	11		all_cancers(142;0.026)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	LUAD - Lung adenocarcinoma(142;0.247)		TGAAGACACGCTGTAGACTCA	0.572													8	19					1.58986e-06	1.82794e-06	1	1	0	A	131819745	C	A	131819745	3	1	81	1	0	0	0	0	1	0	0	0	7871	796	28	4	105	4	IRF1	5	131819745	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	23266	131819745	49095515	4627	8243											
IRF1	3659	broad.mit.edu	37	5	131820178	131820178	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:131820178C>A	ENST00000245414.4	-	9	987	c.729G>T	c.(727-729)caG>caT	p.Q243H	IRF1_ENST00000405885.2_Missense_Mutation_p.Q243H	NM_002198.2	NP_002189.1	P10914	IRF1_HUMAN	interferon regulatory factor 1	243					blood coagulation|cellular response to mechanical stimulus|interferon-gamma-mediated signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	nucleoplasm				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|urinary_tract(1)	11		all_cancers(142;0.026)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	LUAD - Lung adenocarcinoma(142;0.247)		GCCACTCCGACTGCTCCAAGA	0.567													29	52					3.57733e-08	4.23862e-08	1	1	0	A	131820178	C	A	131820178	3	1	81	1	0	0	0	0	1	0	0	0	7871	564	20	4	256	4	IRF1	5	131820178	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	433	131820178	49095082	4628	8244											
IRF1	3659	broad.mit.edu	37	5	131822515	131822515	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:131822515C>T	ENST00000245414.4	-	5	644	c.386G>A	c.(385-387)cGa>cAa	p.R129Q	IRF1_ENST00000405885.2_Missense_Mutation_p.R129Q|IRF1_ENST00000463784.1_5'UTR	NM_002198.2	NP_002189.1	P10914	IRF1_HUMAN	interferon regulatory factor 1	129					blood coagulation|cellular response to mechanical stimulus|interferon-gamma-mediated signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	nucleoplasm				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|urinary_tract(1)	11		all_cancers(142;0.026)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	LUAD - Lung adenocarcinoma(142;0.247)		CTTAGCATCTCGGCTGGACTT	0.592													31	66					0	0	1	0	0	T	131822515	C	T	131822515	3	4	81	1	0	0	0	0	1	0	0	0	7871	884	31	1	615	1	IRF1	5	131822515	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2337	131822515	49092745	4629	8245											
IRF1	3659	broad.mit.edu	37	5	131823680	131823680	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:131823680G>A	ENST00000245414.4	-	3	383	c.125C>T	c.(124-126)gCc>gTc	p.A42V	IRF1_ENST00000405885.2_Missense_Mutation_p.A42V|IRF1_ENST00000463784.1_Intron	NM_002198.2	NP_002189.1	P10914	IRF1_HUMAN	interferon regulatory factor 1	42					blood coagulation|cellular response to mechanical stimulus|interferon-gamma-mediated signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	nucleoplasm				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|urinary_tract(1)	11		all_cancers(142;0.026)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	LUAD - Lung adenocarcinoma(142;0.247)		GCCATGCTTGGCAGCATGCTT	0.537													4	27					0	0	1	0	0	A	131823680	G	A	131823680	3	1	81	1	0	0	0	0	1	0	0	0	7871	1203	42	2	884	2	IRF1	5	131823680	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1165	131823680	49091580	4630	8246											
RAD50	10111	broad.mit.edu	37	5	131953826	131953826	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:131953826C>T	ENST00000378823.3	+	21	3630	c.2812C>T	c.(2812-2814)Cga>Tga	p.R938*	RAD50_ENST00000265335.6_Nonsense_Mutation_p.R1077*	NM_005732.3	NP_005723.2	Q92878	RAD50_HUMAN	RAD50 homolog (S. cerevisiae)	1077					DNA duplex unwinding|double-strand break repair via homologous recombination|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|telomere maintenance via telomerase	Mre11 complex|nuclear chromosome, telomeric region|nucleoplasm	ATP binding|DNA binding|nuclease activity|protein binding, bridging|zinc ion binding			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		all_cancers(142;0.0368)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GGCATTAGGGCGACAGAAAGG	0.318								Homologous recombination					88	176					0	0	1	0	0	T	131953826	C	T	131953826	4	4	81	1	0	0	0	0	0	1	0	0	13036	760	27	1	3311	1	RAD50	5	131953826	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	130146	131953826	48961434	4631	8247											
KIF3A	11127	broad.mit.edu	37	5	132034985	132034985	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:132034985G>T	ENST00000378746.4	-	16	2147	c.1929C>A	c.(1927-1929)ccC>ccA	p.P643P	KIF3A_ENST00000378735.1_Silent_p.P646P|AC004237.1_ENST00000431165.1_RNA|KIF3A_ENST00000403231.1_Silent_p.P670P	NM_007054.5	NP_008985.3	Q9Y496	KIF3A_HUMAN	kinesin family member 3A	643					blood coagulation|organelle organization|plus-end-directed vesicle transport along microtubule	centrosome|cytosol|kinesin II complex|spindle microtubule	ATP binding|plus-end-directed microtubule motor activity|protein binding			endometrium(1)|kidney(4)|large_intestine(8)|lung(3)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	25		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CCACCTCAAAGGGCTAAGTAA	0.403													7	71					2.0095e-06	2.30238e-06	1	1	0	T	132034985	G	T	132034985	2	4	81	1	0	0	0	0	0	0	0	1	8342	987	35	4		4	KIF3A	5	132034985	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	81159	132034985	48880275	4632	8248											
KIF3A	11127	broad.mit.edu	37	5	132038596	132038596	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:132038596C>A	ENST00000378746.4	-	11	1765	c.1547G>T	c.(1546-1548)aGa>aTa	p.R516I	KIF3A_ENST00000487055.1_5'UTR|KIF3A_ENST00000378735.1_Missense_Mutation_p.R519I|AC004237.1_ENST00000431165.1_RNA|KIF3A_ENST00000403231.1_Missense_Mutation_p.R543I	NM_007054.5	NP_008985.3	Q9Y496	KIF3A_HUMAN	kinesin family member 3A	516					blood coagulation|organelle organization|plus-end-directed vesicle transport along microtubule	centrosome|cytosol|kinesin II complex|spindle microtubule	ATP binding|plus-end-directed microtubule motor activity|protein binding			endometrium(1)|kidney(4)|large_intestine(8)|lung(3)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	25		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CTCAAGTTCTCTGCGAAGTTG	0.383													16	224					5.3912e-06	6.11892e-06	1	1	0	A	132038596	C	A	132038596	3	1	81	1	0	0	0	0	1	0	0	0	8342	913	32	4	580	4	KIF3A	5	132038596	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3611	132038596	48876664	4633	8249											
SEPT8	23176	broad.mit.edu	37	5	132099458	132099458	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:132099458C>T	ENST00000296873.7	-	4	757	c.474G>A	c.(472-474)acG>acA	p.T158T	SEPT8_ENST00000378701.1_Silent_p.T156T|SEPT8_ENST00000378721.4_Silent_p.T156T|SEPT8_ENST00000378706.1_Silent_p.T158T|SEPT8_ENST00000458488.2_Silent_p.T158T|SEPT8_ENST00000448933.1_Silent_p.T98T|SEPT8_ENST00000378699.2_Silent_p.T98T|SEPT8_ENST00000378719.2_Silent_p.T158T	NM_001098812.1|NM_015146.1	NP_001092282.1|NP_055961.1	Q92599	SEPT8_HUMAN	septin 8	158					cell cycle	septin complex	GTP binding|protein binding		SEPT8/AFF4(2)	kidney(2)|lung(5)|ovary(2)|skin(1)|urinary_tract(1)	11		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GCCCTGTGGGCGTGATGAAGT	0.517													73	134					0	0	1	0	0	T	132099458	C	T	132099458	2	4	81	1	0	0	0	0	0	0	0	1	14124	755	27	1		1	SEPT8	5	132099458	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	60862	132099458	48815802	4634	8250											
SHROOM1	134549	broad.mit.edu	37	5	132159124	132159124	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:132159124G>A	ENST00000378679.3	-	9	2848	c.2044C>T	c.(2044-2046)Cgc>Tgc	p.R682C	SHROOM1_ENST00000378676.1_Missense_Mutation_p.R613C|SHROOM1_ENST00000488072.1_5'UTR|SHROOM1_ENST00000319854.3_Missense_Mutation_p.R682C	NM_001172700.1	NP_001166171.1	Q2M3G4	SHRM1_HUMAN	shroom family member 1	682	ASD2.				actin filament bundle assembly|cell morphogenesis	cytoplasm|microtubule	actin filament binding			endometrium(1)|kidney(4)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GCCGCTTGGCGCCTGGCCCAC	0.677													15	6					0	0	1	0	0	A	132159124	G	A	132159124	3	1	81	1	0	0	0	0	1	0	0	0	14348	1087	38	1	522	1	SHROOM1	5	132159124	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	59666	132159124	48756136	4635	8251											
GDF9	2661	broad.mit.edu	37	5	132197653	132197653	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:132197653G>T	ENST00000378673.2	-	3	1859	c.993C>A	c.(991-993)ccC>ccA	p.P331P	GDF9_ENST00000296875.2_Silent_p.P331P			O60383	GDF9_HUMAN	growth differentiation factor 9	331					female gamete generation|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			NS(1)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	22		all_cancers(142;0.105)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CTGGGCCCAAGGGCTTCTTCA	0.488													9	76					1.12685e-05	1.27052e-05	1	1	0	T	132197653	G	T	132197653	2	4	81	1	0	0	0	0	0	0	0	1	6361	987	35	4		4	GDF9	5	132197653	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	38529	132197653	48717607	4636	8252	35	2									
GDF9	2661	broad.mit.edu	37	5	132197655	132197655	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:132197655G>A	ENST00000378673.2	-	3	1857	c.991C>T	c.(991-993)Ccc>Tcc	p.P331S	GDF9_ENST00000296875.2_Missense_Mutation_p.P331S			O60383	GDF9_HUMAN	growth differentiation factor 9	331					female gamete generation|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			NS(1)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	22		all_cancers(142;0.105)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GGGCCCAAGGGCTTCTTCAAT	0.483													12	73					0	0	1	0	0	A	132197655	G	A	132197655	3	1	81	1	0	0	0	0	1	0	0	0	6361	1203	42	2	377	2	GDF9	5	132197655	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2	132197655	48717605	4637	8253	35	2									
GDF9	2661	broad.mit.edu	37	5	132198025	132198025	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:132198025C>T	ENST00000378673.2	-	3	1487	c.621G>A	c.(619-621)aaG>aaA	p.K207K	GDF9_ENST00000296875.2_Silent_p.K207K			O60383	GDF9_HUMAN	growth differentiation factor 9	207					female gamete generation|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			NS(1)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	22		all_cancers(142;0.105)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			ATTTGTGTTTCTTTCCAAATT	0.398													43	87					0	0	1	0	0	T	132198025	C	T	132198025	2	4	81	1	0	0	0	0	0	0	0	1	6361	912	32	2		2	GDF9	5	132198025	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	370	132198025	48717235	4638	8254											
AFF4	27125	broad.mit.edu	37	5	132232115	132232115	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:132232115G>A	ENST00000265343.5	-	11	2586	c.2207C>T	c.(2206-2208)cCg>cTg	p.P736L	AFF4_ENST00000378595.3_Missense_Mutation_p.P736L	NM_014423.3	NP_055238.1	Q9UHB7	AFF4_HUMAN	AF4/FMR2 family, member 4	736					transcription from RNA polymerase II promoter	mitochondrion|nucleolus	protein binding|sequence-specific DNA binding transcription factor activity		SEPT8/AFF4(2)	breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(7)|lung(11)|ovary(3)|pancreas(1)|prostate(3)|skin(2)	43		all_cancers(142;0.145)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CCCCTTGGGCGGCTCTGTTTC	0.453													43	54					0	0	1	0	0	A	132232115	G	A	132232115	3	1	81	1	0	0	0	0	1	0	0	0	358	1116	39	1	1328	1	AFF4	5	132232115	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	34090	132232115	48683145	4639	8255											
HSPA4	3308	broad.mit.edu	37	5	132406144	132406144	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:132406144G>A	ENST00000304858.2	+	4	674	c.385G>A	c.(385-387)Gcc>Acc	p.A129T		NM_002154.3	NP_002145.3	P34932	HSP74_HUMAN	heat shock 70kDa protein 4	129					cellular chaperone-mediated protein complex assembly|protein import into mitochondrial outer membrane|response to unfolded protein	cytoplasm|nucleus	ATP binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|stomach(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GAAGGAGACAGCCGAAAGTGT	0.423													33	59					0	0	1	0	0	A	132406144	G	A	132406144	3	1	81	1	0	0	0	0	1	0	0	0	7455	971	34	2	399	2	HSPA4	5	132406144	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	174029	132406144	48509116	4640	8256											
HSPA4	3308	broad.mit.edu	37	5	132424247	132424247	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:132424247G>T	ENST00000304858.2	+	9	1426	c.1137G>T	c.(1135-1137)caG>caT	p.Q379H		NM_002154.3	NP_002145.3	P34932	HSP74_HUMAN	heat shock 70kDa protein 4	379					cellular chaperone-mediated protein complex assembly|protein import into mitochondrial outer membrane|response to unfolded protein	cytoplasm|nucleus	ATP binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|stomach(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GTGCATTGCAGGTGAATATTC	0.373													23	61					6.44725e-10	7.84582e-10	1	1	0	T	132424247	G	T	132424247	5	4	81	1	0	0	0	0	0	0	1	0	7455	1014	35	4	1171	4	HSPA4	5	132424247	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	18103	132424247	48491013	4641	8257											
FSTL4	23105	broad.mit.edu	37	5	132534815	132534815	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:132534815G>A	ENST00000265342.7	-	16	2750	c.2501C>T	c.(2500-2502)aCc>aTc	p.T834I	CTB-49A3.2_ENST00000509051.1_RNA	NM_015082.1	NP_055897.1	Q6MZW2	FSTL4_HUMAN	follistatin-like 4	834						extracellular region	calcium ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(8)|skin(2)|upper_aerodigestive_tract(1)	23		all_cancers(142;0.244)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CACCACTGTGGTCCCCCCCTT	0.582													12	11					0	0	1	0	0	A	132534815	G	A	132534815	3	1	81	1	0	0	0	0	1	0	0	0	6114	1261	44	2	31	2	FSTL4	5	132534815	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	110568	132534815	48380445	4642	8258											
FSTL4	23105	broad.mit.edu	37	5	132537633	132537633	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:132537633G>A	ENST00000265342.7	-	15	2067	c.1818C>T	c.(1816-1818)aaC>aaT	p.N606N	CTB-49A3.2_ENST00000509051.1_RNA	NM_015082.1	NP_055897.1	Q6MZW2	FSTL4_HUMAN	follistatin-like 4	606						extracellular region	calcium ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(8)|skin(2)|upper_aerodigestive_tract(1)	23		all_cancers(142;0.244)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			ACCTGATGTGGTTGATGATGA	0.572													39	59					0	0	1	0	0	A	132537633	G	A	132537633	2	1	81	1	0	0	0	0	0	0	0	1	6114	1252	44	2		2	FSTL4	5	132537633	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2818	132537633	48377627	4643	8259											
FSTL4	23105	broad.mit.edu	37	5	132736489	132736489	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:132736489G>A	ENST00000265342.7	-	4	599	c.350C>T	c.(349-351)gCt>gTt	p.A117V		NM_015082.1	NP_055897.1	Q6MZW2	FSTL4_HUMAN	follistatin-like 4	117	Kazal-like.					extracellular region	calcium ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(8)|skin(2)|upper_aerodigestive_tract(1)	23		all_cancers(142;0.244)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GAGGCAAGCAGCACGGTGGAG	0.562													16	24					0	0	1	0	0	A	132736489	G	A	132736489	3	1	81	1	0	0	0	0	1	0	0	0	6114	971	34	2	2230	2	FSTL4	5	132736489	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	198856	132736489	48178771	4644	8260											
C5orf15	56951	broad.mit.edu	37	5	133295380	133295380	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:133295380C>T	ENST00000231512.3	-	2	673	c.471G>A	c.(469-471)acG>acA	p.T157T	C5orf15_ENST00000507191.1_5'UTR	NM_020199.2	NP_064584.1	Q8NC54	KCT2_HUMAN	chromosome 5 open reading frame 15	157						integral to membrane				endometrium(2)|large_intestine(1)|lung(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00806)|Kidney(363;0.02)			CCCTGGGGCCCGTGGTCCAGT	0.478													5	53					0	0	1	0	0	T	133295380	C	T	133295380	2	4	81	1	0	0	0	0	0	0	0	1	2298	639	23	1		1	C5orf15	5	133295380	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	558891	133295380	47619880	4645	8261											
PPP2CA	5515	broad.mit.edu	37	5	133534873	133534873	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:133534873C>T	ENST00000481195.1	-	6	1041	c.761G>A	c.(760-762)cGg>cAg	p.R254Q	CTD-2410N18.5_ENST00000519718.1_Intron	NM_002715.2	NP_002706.1			protein phosphatase 2, catalytic subunit, alpha isozyme											endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|skin(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TACTACATTCCGGTCATGGCA	0.368													19	48					0	0	1	0	0	T	133534873	C	T	133534873	3	4	81	1	0	0	0	0	1	0	0	0	12429	652	23	1	176	1	PPP2CA	5	133534873	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	239493	133534873	47380387	4646	8262											
PPP2CA	5515	broad.mit.edu	37	5	133536734	133536734	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:133536734G>T	ENST00000481195.1	-	4	798	c.518C>A	c.(517-519)tCt>tAt	p.S173Y	CTD-2410N18.5_ENST00000519718.1_Intron	NM_002715.2	NP_002706.1			protein phosphatase 2, catalytic subunit, alpha isozyme											endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|skin(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TGTATCTATAGATGGCGAGAG	0.373													29	48					3.11337e-16	3.99083e-16	1	1	0	T	133536734	G	T	133536734	3	4	81	1	0	0	0	0	1	0	0	0	12429	942	33	4	427	4	PPP2CA	5	133536734	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1861	133536734	47378526	4647	8263											
PPP2CA	5515	broad.mit.edu	37	5	133541666	133541666	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:133541666C>T	ENST00000481195.1	-	2	539	c.259G>A	c.(259-261)Gtt>Att	p.V87I	PPP2CA_ENST00000231504.5_5'UTR|CTD-2410N18.5_ENST00000519718.1_Intron|CDKL3_ENST00000609654.1_Missense_Mutation_p.V437I|CTD-2410N18.4_ENST00000518409.1_RNA|CDKL3_ENST00000609383.1_3'UTR	NM_002715.2	NP_002706.1			protein phosphatase 2, catalytic subunit, alpha isozyme											endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|skin(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CCTCTGTCAACATAATCTCCC	0.373													5	54					0	0	1	0	0	T	133541666	C	T	133541666	3	4	81	1	0	0	0	0	1	0	0	0	12429	478	17	2	694	2	PPP2CA	5	133541666	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	4932	133541666	47373594	4648	8264											
SEC24A	10802	broad.mit.edu	37	5	133996919	133996919	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:133996919G>T	ENST00000398844.2	+	2	496	c.208G>T	c.(208-210)Gtc>Ttc	p.V70F	SEC24A_ENST00000322887.4_Missense_Mutation_p.V70F	NM_021982.2	NP_068817.1	O95486	SC24A_HUMAN	SEC24 family member A	70					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding			NS(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	36			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TTTGAATCCAGTCTCTGGACA	0.473													17	204					4.7546e-09	5.70666e-09	1	1	0	T	133996919	G	T	133996919	3	4	81	1	0	0	0	0	1	0	0	0	14048	1029	36	4	214	4	SEC24A	5	133996919	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	455253	133996919	46918341	4649	8265											
SEC24A	10802	broad.mit.edu	37	5	134023989	134023989	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:134023989G>T	ENST00000398844.2	+	11	2011	c.1723G>T	c.(1723-1725)Gat>Tat	p.D575Y	SEC24A_ENST00000322887.4_Splice_Site_p.D575Y	NM_021982.2	NP_068817.1	O95486	SC24A_HUMAN	SEC24 family member A	575					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding			NS(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	36			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AGATATTGAAGGTATAGATTT	0.308													5	41					1.23904e-05	1.39156e-05	1	1	0	T	134023989	G	T	134023989	5	4	81	1	0	0	0	0	0	0	1	0	14048	1014	35	4	1765	4	SEC24A	5	134023989	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	27070	134023989	46891271	4650	8266											
SEC24A	10802	broad.mit.edu	37	5	134059261	134059261	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:134059261A>C	ENST00000398844.2	+	22	3356	c.3068A>C	c.(3067-3069)gAc>gCc	p.D1023A		NM_021982.2	NP_068817.1	O95486	SC24A_HUMAN	SEC24 family member A	1023					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding			NS(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	36			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TAACAGACAGACCTTCCAGAA	0.308													17	100					0	0	1	0	0	C	134059261	A	C	134059261	3	2	81	1	0	0	0	0	1	0	0	0	14048	275	10	5	3154	5	SEC24A	5	134059261	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	35272	134059261	46855999	4651	8267											
DDX46	9879	broad.mit.edu	37	5	134109457	134109457	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:134109457G>A	ENST00000452510.2	+	5	677	c.519G>A	c.(517-519)gaG>gaA	p.E173E	DDX46_ENST00000354283.4_Silent_p.E173E	NM_014829.2	NP_055644.2	Q7L014	DDX46_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 46	173					mRNA processing|RNA splicing	Cajal body|nuclear speck	ATP binding|ATP-dependent helicase activity|RNA binding			NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GGCGAGAAGAGCAACGTAAAA	0.373													14	17					0	0	1	0	0	A	134109457	G	A	134109457	2	1	81	1	0	0	0	0	0	0	0	1	4387	962	34	2		2	DDX46	5	134109457	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	50196	134109457	46805803	4652	8268											
DDX46	9879	broad.mit.edu	37	5	134113367	134113367	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:134113367delA	ENST00000452510.2	+	6	875	c.717delA	c.(715-717)gtafs	p.V239fs	DDX46_ENST00000354283.4_Frame_Shift_Del_p.V239fs	NM_014829.2	NP_055644.2	Q7L014	DDX46_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 46	239					mRNA processing|RNA splicing	Cajal body|nuclear speck	ATP binding|ATP-dependent helicase activity|RNA binding			NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			AAGAGGAAGTAAAAAAATTTA	0.378													36	92	---	---	---	---						-	134113367	A	-	134113367	7	5	81	1	0	1	0	1	0	0	0	0	4387	349	13	0	739	0	DDX46	5	134113367	Frame_Shift_Del	DEL	A	TCGA-DU-6392-01A-11D-1705-08	3910	134113367	46801893	4653	8269											
DDX46	9879	broad.mit.edu	37	5	134124246	134124246	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:134124246C>A	ENST00000452510.2	+	12	1666	c.1508C>A	c.(1507-1509)cCt>cAt	p.P503H	DDX46_ENST00000354283.4_Missense_Mutation_p.P503H|DDX46_ENST00000509178.1_3'UTR	NM_014829.2	NP_055644.2	Q7L014	DDX46_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 46	503	Helicase ATP-binding.				mRNA processing|RNA splicing	Cajal body|nuclear speck	ATP binding|ATP-dependent helicase activity|RNA binding			NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GTTTGCACACCTGGTCGAATG	0.308													14	129					1.05317e-09	1.27674e-09	1	1	0	A	134124246	C	A	134124246	3	1	81	1	0	0	0	0	1	0	0	0	4387	681	24	4	1554	4	DDX46	5	134124246	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	10879	134124246	46791014	4654	8270											
DDX46	9879	broad.mit.edu	37	5	134146948	134146948	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:134146948G>A	ENST00000452510.2	+	17	2344	c.2186G>A	c.(2185-2187)cGc>cAc	p.R729H	DDX46_ENST00000354283.4_Missense_Mutation_p.R729H	NM_014829.2	NP_055644.2	Q7L014	DDX46_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 46	729	Helicase C-terminal.				mRNA processing|RNA splicing	Cajal body|nuclear speck	ATP binding|ATP-dependent helicase activity|RNA binding			NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GATCAAGCTCGCTATGCTGGT	0.373													4	65					0	0	1	0	0	A	134146948	G	A	134146948	3	1	81	1	0	0	0	0	1	0	0	0	4387	1087	38	1	2252	1	DDX46	5	134146948	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	22702	134146948	46768312	4655	8271											
DDX46	9879	broad.mit.edu	37	5	134152280	134152280	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:134152280G>A	ENST00000452510.2	+	19	2755	c.2597G>A	c.(2596-2598)gGc>gAc	p.G866D	DDX46_ENST00000354283.4_Missense_Mutation_p.G866D	NM_014829.2	NP_055644.2	Q7L014	DDX46_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 46	866					mRNA processing|RNA splicing	Cajal body|nuclear speck	ATP binding|ATP-dependent helicase activity|RNA binding			NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			AAGAATTTGGGCATCGAGTCT	0.368													11	23					0	0	1	0	0	A	134152280	G	A	134152280	3	1	81	1	0	0	0	0	1	0	0	0	4387	1203	42	2	2671	2	DDX46	5	134152280	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	5332	134152280	46762980	4656	8272											
C5orf24	134553	broad.mit.edu	37	5	134190879	134190879	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:134190879A>G	ENST00000394976.3	+	2	517	c.289A>G	c.(289-291)Acc>Gcc	p.T97A	C5orf24_ENST00000338051.4_Missense_Mutation_p.T97A|C5orf24_ENST00000435259.2_Missense_Mutation_p.T97A|C5orf24_ENST00000504727.1_Missense_Mutation_p.T97A	NM_001135586.1	NP_001129058.1	Q7Z6I8	CE024_HUMAN	chromosome 5 open reading frame 24	97										breast(2)|endometrium(2)|lung(2)	6			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TTCGGGAACCACCAAATCAGC	0.493													18	53					0	0	1	0	0	G	134190879	A	G	134190879	3	3	81	1	0	0	0	0	1	0	0	0	2302	159	6	3	291	3	C5orf24	5	134190879	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	38599	134190879	46724381	4657	8273											
PITX1	5307	broad.mit.edu	37	5	134367153	134367153	+	Missense_Mutation	SNP	G	G	A	rs139844695		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:134367153G>A	ENST00000265340.7	-	2	631	c.215C>T	c.(214-216)gCg>gTg	p.A72V	PITX1_ENST00000506438.1_Missense_Mutation_p.A72V	NM_002653.4	NP_002644.4	P78337	PITX1_HUMAN	paired-like homeodomain 1	72						nucleolus	sequence-specific DNA binding			central_nervous_system(1)|cervix(3)|endometrium(3)|large_intestine(1)|lung(5)|ovary(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)	READ - Rectum adenocarcinoma(2;0.0607)		CGTGCCTCCCGCACCACTGTC	0.677													9	14					0	0	1	0	0	A	134367153	G	A	134367153	3	1	81	1	0	0	0	0	1	0	0	0	12002	1087	38	1	737	1	PITX1	5	134367153	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	176274	134367153	46548107	4658	8274											
H2AFY	9555	broad.mit.edu	37	5	134679121	134679121	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:134679121G>A	ENST00000511689.1	-	8	1375	c.782C>T	c.(781-783)gCt>gTt	p.A261V	H2AFY_ENST00000312469.4_Missense_Mutation_p.A258V|CTC-349C3.1_ENST00000432382.3_Missense_Mutation_p.A135T|H2AFY_ENST00000423969.2_Missense_Mutation_p.A89V|H2AFY_ENST00000510038.1_Missense_Mutation_p.A261V|H2AFY_ENST00000304332.4_Missense_Mutation_p.A260V|H2AFY_ENST00000512507.1_5'UTR	NM_001040158.1|NM_138610.2	NP_001035248.1|NP_613258.2	O75367	H2AY_HUMAN	H2A histone family, member Y	261	Macro.				chromatin modification|dosage compensation|nucleosome assembly	Barr body|nucleosome	DNA binding			endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TGCGCTGACAGCAGCTAGTGG	0.517													41	42					0	0	1	0	0	A	134679121	G	A	134679121	3	1	81	1	0	0	0	0	1	0	0	0	6970	971	34	2	344	2	H2AFY	5	134679121	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	311968	134679121	46236139	4659	8275											
TIFAB	497189	broad.mit.edu	37	5	134785473	134785473	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:134785473G>A	ENST00000537858.1	-	2	357	c.157C>T	c.(157-159)Ctc>Ttc	p.L53F		NM_001099221.1	NP_001092691.1	Q6ZNK6	TIFAB_HUMAN	TRAF-interacting protein with forkhead-associated domain, family member B	53	FHA.									breast(1)|endometrium(1)|liver(1)|lung(5)	8			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CGGCGGGAGAGGCGAGGGAGC	0.657													30	23					0	0	1	0	0	A	134785473	G	A	134785473	3	1	81	1	0	0	0	0	1	0	0	0	15955	1000	35	2	332	2	TIFAB	5	134785473	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	106352	134785473	46129787	4660	8276											
IL9	3578	broad.mit.edu	37	5	135231130	135231130	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:135231130G>T	ENST00000274520.1	-	3	192	c.182C>A	c.(181-183)tCt>tAt	p.S61Y		NM_000590.1	NP_000581.1	P15248	IL9_HUMAN	interleukin 9	61					immune response|inflammatory response|positive regulation of cell proliferation|positive regulation of interleukin-5 biosynthetic process	extracellular space	cytokine activity|cytokine receptor binding|growth factor activity			large_intestine(3)|lung(2)|pancreas(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TATACTTACAGAGGGAATGCC	0.294													8	66					1.76689e-08	2.10148e-08	1	1	0	T	135231130	G	T	135231130	5	4	81	1	0	0	0	0	0	0	1	0	7751	956	33	4	264	4	IL9	5	135231130	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	445657	135231130	45684130	4661	8277											
TGFBI	7045	broad.mit.edu	37	5	135392419	135392419	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:135392419C>T	ENST00000442011.2	+	12	1774	c.1613C>T	c.(1612-1614)aCa>aTa	p.T538I	TGFBI_ENST00000305126.8_Missense_Mutation_p.T538I	NM_000358.2	NP_000349.1	Q15582	BGH3_HUMAN	transforming growth factor, beta-induced, 68kDa	538	FAS1 4.		T -> R (in CDL1; delayed age of onset).		angiogenesis|cell adhesion|cell proliferation|negative regulation of cell adhesion|response to stimulus|visual perception	extracellular space|proteinaceous extracellular matrix	integrin binding			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GGAGTCTACACAGTCTTTGCT	0.507													9	37					0	0	1	0	0	T	135392419	C	T	135392419	3	4	81	1	0	0	0	0	1	0	0	0	15880	478	17	2	1659	2	TGFBI	5	135392419	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	161289	135392419	45522841	4662	8278											
TRPC7	57113	broad.mit.edu	37	5	135583405	135583405	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:135583405G>T	ENST00000513104.1	-	7	1880	c.1598C>A	c.(1597-1599)cCt>cAt	p.P533H	TRPC7_ENST00000426057.2_Missense_Mutation_p.P417H|TRPC7_ENST00000355180.3_Missense_Mutation_p.P472H	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	533					axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			AGGGTCTGAAGGCCACCACTT	0.498													19	44					1.2644e-06	1.45856e-06	1	1	0	T	135583405	G	T	135583405	3	4	81	1	0	0	0	0	1	0	0	0	16645	1000	35	4	1014	4	TRPC7	5	135583405	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	190986	135583405	45331855	4663	8279											
PKD2L2	27039	broad.mit.edu	37	5	137242000	137242000	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:137242000C>A	ENST00000508638.1	+	6	907	c.852C>A	c.(850-852)tcC>tcA	p.S284S	PKD2L2_ENST00000350250.4_Silent_p.S250S|PKD2L2_ENST00000508883.1_Silent_p.S284S|PKD2L2_ENST00000502810.1_Silent_p.S284S|PKD2L2_ENST00000290431.5_Silent_p.S284S	NM_001258449.1	NP_001245378.1	Q9NZM6	PK2L2_HUMAN	polycystic kidney disease 2-like 2	284						integral to membrane	calcium ion binding|ion channel activity			breast(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	28			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			TTATTGCTTCCTGTGAAATCA	0.338													31	61					2.65835e-16	3.41045e-16	1	1	0	A	137242000	C	A	137242000	2	1	81	1	0	0	0	0	0	0	0	1	12016	668	24	4		4	PKD2L2	5	137242000	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1658595	137242000	43673260	4664	8280											
FAM13B	51306	broad.mit.edu	37	5	137289855	137289855	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:137289855C>A	ENST00000033079.3	-	14	2103	c.1652G>T	c.(1651-1653)aGa>aTa	p.R551I	FAM13B_ENST00000425075.2_Splice_Site_p.R455I|FAM13B_ENST00000420893.2_Splice_Site_p.R551I	NM_016603.2	NP_057687.2	Q9NYF5	FA13B_HUMAN	family with sequence similarity 13, member B	551					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			endometrium(4)|kidney(2)|lung(5)	11						AATCATATACCTAGTAAAAGA	0.388													5	41					0.00116845	0.00124301	1	1	0	A	137289855	C	A	137289855	5	1	81	1	0	0	0	0	0	0	1	0	5483	695	24	4	1135	4	FAM13B	5	137289855	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	47855	137289855	43625405	4665	8281											
FAM13B	51306	broad.mit.edu	37	5	137295347	137295347	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:137295347G>A	ENST00000033079.3	-	13	1850	c.1399C>T	c.(1399-1401)Cat>Tat	p.H467Y	FAM13B_ENST00000425075.2_Missense_Mutation_p.H349Y|FAM13B_ENST00000420893.2_Missense_Mutation_p.H467Y	NM_016603.2	NP_057687.2	Q9NYF5	FA13B_HUMAN	family with sequence similarity 13, member B	467					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			endometrium(4)|kidney(2)|lung(5)	11						AGATCTAAATGTGGAATACTG	0.398													5	43					0	0	1	0	0	A	137295347	G	A	137295347	3	1	81	1	0	0	0	0	1	0	0	0	5483	1377	48	2	1462	2	FAM13B	5	137295347	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	5492	137295347	43619913	4666	8282											
FAM13B	51306	broad.mit.edu	37	5	137342722	137342722	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:137342722T>C	ENST00000033079.3	-	7	1256	c.805A>G	c.(805-807)Atg>Gtg	p.M269V	FAM13B_ENST00000425075.2_Missense_Mutation_p.M151V|FAM13B_ENST00000420893.2_Missense_Mutation_p.M269V	NM_016603.2	NP_057687.2	Q9NYF5	FA13B_HUMAN	family with sequence similarity 13, member B	269					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			endometrium(4)|kidney(2)|lung(5)	11						TTTTCAGTCATCCTTAATTGT	0.373													14	122					0	0	1	0	0	C	137342722	T	C	137342722	3	2	81	1	0	0	0	0	1	0	0	0	5483	1435	50	3	2080	3	FAM13B	5	137342722	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	47375	137342722	43572538	4667	8283											
CDC23	8697	broad.mit.edu	37	5	137527974	137527974	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:137527974G>A	ENST00000394886.2	-	11	1300	c.1270C>T	c.(1270-1272)Cgg>Tgg	p.R424W		NM_004661.3	NP_004652.2	Q9UJX2	CDC23_HUMAN	cell division cycle 23	424					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G1 phase of mitotic cell cycle|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase plate congression|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of exit from mitosis	anaphase-promoting complex|cytosol|nucleoplasm	binding|ubiquitin-protein ligase activity			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(6)|prostate(2)|skin(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			TGGTGGGCCCGTCTATAATAA	0.438													26	37					0	0	1	0	0	A	137527974	G	A	137527974	3	1	81	1	0	0	0	0	1	0	0	0	3083	1144	40	1	547	1	CDC23	5	137527974	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	185252	137527974	43387286	4668	8284											
CDC23	8697	broad.mit.edu	37	5	137536863	137536863	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:137536863G>T	ENST00000394886.2	-	6	617	c.587C>A	c.(586-588)aCt>aAt	p.T196N		NM_004661.3	NP_004652.2	Q9UJX2	CDC23_HUMAN	cell division cycle 23	196					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G1 phase of mitotic cell cycle|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase plate congression|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of exit from mitosis	anaphase-promoting complex|cytosol|nucleoplasm	binding|ubiquitin-protein ligase activity			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(6)|prostate(2)|skin(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			CAAAACATGAGTAGCTTCCAC	0.418													33	43					9.17885e-22	1.2033e-21	1	1	0	T	137536863	G	T	137536863	3	4	81	1	0	0	0	0	1	0	0	0	3083	1029	36	4	1250	4	CDC23	5	137536863	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	8889	137536863	43378397	4669	8285											
CDC23	8697	broad.mit.edu	37	5	137548861	137548861	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:137548861G>A	ENST00000394886.2	-	1	171	c.141C>T	c.(139-141)ggC>ggT	p.G47G	CDC23_ENST00000394884.3_Silent_p.G47G|CDC23_ENST00000505120.1_Silent_p.G47G	NM_004661.3	NP_004652.2	Q9UJX2	CDC23_HUMAN	cell division cycle 23	47					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G1 phase of mitotic cell cycle|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase plate congression|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of exit from mitosis	anaphase-promoting complex|cytosol|nucleoplasm	binding|ubiquitin-protein ligase activity			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(6)|prostate(2)|skin(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			TGTGTAGTAGGCCCCGCTCCC	0.552													36	73					0	0	1	0	0	A	137548861	G	A	137548861	2	1	81	1	0	0	0	0	0	0	0	1	3083	1190	42	2		2	CDC23	5	137548861	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	11998	137548861	43366399	4670	8286											
CDC25C	995	broad.mit.edu	37	5	137627773	137627773	+	Silent	SNP	C	C	T	rs116617843	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:137627773C>T	ENST00000323760.6	-	8	926	c.648G>A	c.(646-648)tcG>tcA	p.S216S	CDC25C_ENST00000513970.1_Silent_p.S216S|CDC25C_ENST00000356505.3_Silent_p.S186S|CDC25C_ENST00000357274.3_Silent_p.S173S|CDC25C_ENST00000348983.3_Silent_p.S143S|CDC25C_ENST00000514555.1_Silent_p.S186S|CDC25C_ENST00000415130.2_Silent_p.S143S	NM_001790.3	NP_001781.2	P30307	MPIP3_HUMAN	cell division cycle 25C	216					cell cycle checkpoint|cell division|cell proliferation|DNA replication|G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of mitosis|traversing start control point of mitotic cell cycle	cytosol|nucleoplasm	protein tyrosine phosphatase activity|WW domain binding			endometrium(2)|kidney(3)|large_intestine(5)|lung(5)|skin(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			TCTCTGGCATCGACGGGGAGC	0.448													54	90					0	0	1	0	0	T	137627773	C	T	137627773	2	4	81	1	0	0	0	0	0	0	0	1	3086	871	31	1		1	CDC25C	5	137627773	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	78912	137627773	43287487	4671	8287											
KDM3B	51780	broad.mit.edu	37	5	137717216	137717216	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:137717216C>T	ENST00000314358.5	+	6	917	c.717C>T	c.(715-717)atC>atT	p.I239I		NM_016604.3	NP_057688	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	239					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						GTGGTGAGATCAAGTCGGTAG	0.383													20	52					0	0	1	0	0	T	137717216	C	T	137717216	2	4	81	1	0	0	0	0	0	0	0	1	8171	816	29	2		2	KDM3B	5	137717216	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	89443	137717216	43198044	4672	8288											
KDM3B	51780	broad.mit.edu	37	5	137721803	137721803	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:137721803G>A	ENST00000314358.5	+	7	1073	c.873G>A	c.(871-873)tcG>tcA	p.S291S		NM_016604.3	NP_057688	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	291					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						AAAGTGCTTCGGACTCTGGGT	0.493													24	45					0	0	1	0	0	A	137721803	G	A	137721803	2	1	81	1	0	0	0	0	0	0	0	1	8171	1103	39	1		1	KDM3B	5	137721803	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	4587	137721803	43193457	4673	8289											
KDM3B	51780	broad.mit.edu	37	5	137721960	137721960	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:137721960T>A	ENST00000314358.5	+	7	1230	c.1030T>A	c.(1030-1032)Tct>Act	p.S344T	KDM3B_ENST00000394866.1_Intron	NM_016604.3	NP_057688	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	344					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						GCAGCCACCGTCTACATTTGT	0.572													19	160					0	0	1	0	0	A	137721960	T	A	137721960	3	1	81	1	0	0	0	0	1	0	0	0	8171	1667	58	5	1056	5	KDM3B	5	137721960	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	157	137721960	43193300	4674	8290											
EGR1	1958	broad.mit.edu	37	5	137803019	137803019	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:137803019C>T	ENST00000239938.4	+	2	1153	c.881C>T	c.(880-882)gCc>gTc	p.A294V		NM_001964.2	NP_001955.1	P18146	EGR1_HUMAN	early growth response 1	294					cellular response to heparin|cellular response to mycophenolic acid|glomerular mesangial cell proliferation|interleukin-1-mediated signaling pathway|positive regulation of glomerular metanephric mesangial cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of protein sumoylation|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytoplasm|nucleus	histone acetyltransferase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|ovary(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			ACTATTAAGGCCTTTGCCACT	0.627													47	76					0	0	1	0	0	T	137803019	C	T	137803019	3	4	81	1	0	0	0	0	1	0	0	0	4997	739	26	2	887	2	EGR1	5	137803019	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	81059	137803019	43112241	4675	8291											
CTNNA1	1495	broad.mit.edu	37	5	138264967	138264967	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:138264967G>A	ENST00000302763.7	+	14	2022	c.1932G>A	c.(1930-1932)gaG>gaA	p.E644E	CTNNA1_ENST00000540387.1_Silent_p.E274E|CTNNA1_ENST00000355078.5_Silent_p.E541E|CTNNA1_ENST00000518825.1_Silent_p.E644E	NM_001903.2	NP_001894.2	P35221	CTNA1_HUMAN	catenin (cadherin-associated protein), alpha 1, 102kDa	644					adherens junction organization|apical junction assembly|cell adhesion|cellular response to indole-3-methanol|muscle cell differentiation|positive regulation of muscle cell differentiation	actin cytoskeleton|catenin complex|cytosol	beta-catenin binding|cadherin binding|gamma-catenin binding|structural molecule activity|vinculin binding			NS(1)|breast(7)|cervix(2)|endometrium(4)|kidney(6)|large_intestine(16)|lung(9)|oesophagus(2)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	52			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			CTGACTTTGAGACAGAAGATT	0.582													31	51					0	0	1	0	0	A	138264967	G	A	138264967	2	1	81	1	0	0	0	0	0	0	0	1	4036	933	33	2		2	CTNNA1	5	138264967	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	461948	138264967	42650293	4676	8292											
SIL1	64374	broad.mit.edu	37	5	138362650	138362650	+	Missense_Mutation	SNP	C	C	T	rs138300781		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:138362650C>T	ENST00000394817.2	-	6	624	c.485G>A	c.(484-486)cGc>cAc	p.R162H	CTB-46B19.2_ENST00000512875.2_RNA|SIL1_ENST00000265195.5_Missense_Mutation_p.R162H|SIL1_ENST00000509534.1_Missense_Mutation_p.R169H	NM_022464.4	NP_071909.1	Q9H173	SIL1_HUMAN	SIL1 nucleotide exchange factor	162	Interaction with HSPA5 and localization to the endoplasmic reticulum (By similarity).				intracellular protein transport|protein folding|transmembrane transport	endoplasmic reticulum lumen	unfolded protein binding			endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			CTCAATGGGGCGGAAGAGCCG	0.473									Marinesco-Sjgren syndrome				15	20					0	0	1	0	0	T	138362650	C	T	138362650	3	4	81	1	0	0	0	0	1	0	0	0	14376	768	27	1	920	1	SIL1	5	138362650	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	97683	138362650	42552610	4677	8293											
PSD2	84249	broad.mit.edu	37	5	139193812	139193812	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:139193812G>T	ENST00000274710.3	+	4	1084	c.879G>T	c.(877-879)gaG>gaT	p.E293D		NM_032289.2	NP_115665.1	Q9BQI7	PSD2_HUMAN	pleckstrin and Sec7 domain containing 2	293	SEC7.				regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2)	38			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCAGCTCGGAGGGGTTGGAGC	0.632													5	98					0.000602214	0.000646338	1	1	0	T	139193812	G	T	139193812	3	4	81	1	0	0	0	0	1	0	0	0	12696	991	35	4	889	4	PSD2	5	139193812	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	831162	139193812	41721448	4678	8294											
PSD2	84249	broad.mit.edu	37	5	139216472	139216472	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:139216472C>T	ENST00000274710.3	+	10	1685	c.1480C>T	c.(1480-1482)Cga>Tga	p.R494*		NM_032289.2	NP_115665.1	Q9BQI7	PSD2_HUMAN	pleckstrin and Sec7 domain containing 2	494					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2)	38			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAAGGTGACGCGAATCCTGGA	0.577													39	62					0	0	1	0	0	T	139216472	C	T	139216472	4	4	81	1	0	0	0	0	0	1	0	0	12696	760	27	1	1514	1	PSD2	5	139216472	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	22660	139216472	41698788	4679	8295											
PURA	5813	broad.mit.edu	37	5	139494544	139494544	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:139494544C>T	ENST00000331327.3	+	1	837	c.778C>T	c.(778-780)Ccc>Tcc	p.P260S		NM_005859.4	NP_005850.1	Q00577	PURA_HUMAN	purine-rich element binding protein A	260					DNA unwinding involved in replication|DNA-dependent DNA replication initiation	DNA replication factor A complex	double-stranded telomeric DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|single-stranded DNA binding|transcription factor binding			central_nervous_system(1)|lung(2)|ovary(1)|prostate(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CATCACCGTGCCCTACAAGGT	0.547													12	35					0	0	1	0	0	T	139494544	C	T	139494544	3	4	81	1	0	0	0	0	1	0	0	0	12879	739	26	2	780	2	PURA	5	139494544	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	278072	139494544	41420716	4680	8296											
SLC4A9	83697	broad.mit.edu	37	5	139742030	139742031	+	Splice_Site	INS	-	-	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:139742030_139742031insT	ENST00000230993.6	+	6	827_828	c.792_793insT	c.(793-795)ttt>Tttt	p.F265fs	SLC4A9_ENST00000507527.1_Splice_Site_p.F265fs|SLC4A9_ENST00000432095.2_Splice_Site_p.F241fs|SLC4A9_ENST00000506757.2_Splice_Site_p.F241fs|SLC4A9_ENST00000506545.1_Splice_Site_p.F241fs	NM_001258428.1	NP_001245357.1	Q96Q91	B3A4_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 9	265						integral to membrane|plasma membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity			endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTTCCTCAGGTTTTTCTGCCT	0.594													30	45	---	---	---	---						T	139742031	-	T	139742030	8	5	81	1	0	1	1	0	0	0	1	0	14715	1275	44	0	742	0	SLC4A9	5	139742030	Splice_Site	INS	-	TCGA-DU-6392-01A-11D-1705-08	247486	139742030	41173230	4681	8297											
ANKHD1	54882	broad.mit.edu	37	5	139876355	139876356	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:139876355_139876356insA	ENST00000297183.6	+	15	2620_2621	c.2496_2497insA	c.(2497-2499)aaafs	p.K833fs	ANKHD1-EIF4EBP3_ENST00000532219.1_Frame_Shift_Ins_p.K833fs|ANKHD1_ENST00000462121.1_3'UTR|ANKHD1_ENST00000360839.2_Frame_Shift_Ins_p.K833fs	NM_020690.5	NP_065741.3			ankyrin repeat and KH domain containing 1											breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGAAGAAGAAGAAAATATTGAA	0.376													31	77	---	---	---	---						A	139876356	-	A	139876355	7	5	81	1	0	1	1	0	0	0	0	0	624	933	33	0	2660	0	ANKHD1	5	139876355	Frame_Shift_Ins	INS	-	TCGA-DU-6392-01A-11D-1705-08	134325	139876355	41038905	4682	8298											
ANKHD1	54882	broad.mit.edu	37	5	139887505	139887505	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:139887505C>A	ENST00000297183.6	+	20	3811	c.3687C>A	c.(3685-3687)acC>acA	p.T1229T	ANKHD1_ENST00000360839.2_Silent_p.T1229T|ANKHD1-EIF4EBP3_ENST00000532219.1_Silent_p.T1229T	NM_020690.5	NP_065741.3			ankyrin repeat and KH domain containing 1											breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGCTCTCACCCTGGCCTGTT	0.463													7	61					0.27861	0.279815	1	1	0	A	139887505	C	A	139887505	2	1	81	1	0	0	0	0	0	0	0	1	624	610	22	5		5	ANKHD1	5	139887505	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	11150	139887505	41027755	4683	8299											
ANKHD1	54882	broad.mit.edu	37	5	139909249	139909249	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:139909249G>T	ENST00000297183.6	+	29	6842	c.6718G>T	c.(6718-6720)Gat>Tat	p.D2240Y	ANKHD1_ENST00000360839.2_Missense_Mutation_p.D2240Y|ANKHD1_ENST00000544120.1_Missense_Mutation_p.D623Y|ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.D2240Y	NM_020690.5	NP_065741.3			ankyrin repeat and KH domain containing 1											breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGTTGCTACAGATGCCTCTTT	0.502													12	110					0.0167234	0.0172577	1	1	0	T	139909249	G	T	139909249	3	4	81	1	0	0	0	0	1	0	0	0	624	942	33	4	6938	4	ANKHD1	5	139909249	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	21744	139909249	41006011	4684	8300											
TMCO6	55374	broad.mit.edu	37	5	140023377	140023377	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140023377G>A	ENST00000394671.3	+	9	1032	c.931G>A	c.(931-933)Gtg>Atg	p.V311M	TMCO6_ENST00000252100.6_Missense_Mutation_p.V317M|TMCO6_ENST00000537378.1_Missense_Mutation_p.V71M|NDUFA2_ENST00000510680.1_Intron	NM_018502.3	NP_060972.3	Q96DC7	TMCO6_HUMAN	transmembrane and coiled-coil domains 6	311					protein import into nucleus	cytoplasm|nuclear pore	binding|protein transporter activity	p.V311M(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|urinary_tract(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCATGCCCCGTGCTTCGATG	0.502													17	30					0	0	1	0	0	A	140023377	G	A	140023377	3	1	81	1	0	0	0	0	1	0	0	0	16060	1145	40	1	965	1	TMCO6	5	140023377	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	114128	140023377	40891883	4685	8301											
IK	3550	broad.mit.edu	37	5	140041219	140041219	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140041219G>A	ENST00000417647.2	+	17	1567	c.1428G>A	c.(1426-1428)ggG>ggA	p.G476G		NM_006083.3	NP_006074.2	Q13123	RED_HUMAN	IK cytokine, down-regulator of HLA II	476					cell-cell signaling|immune response	extracellular space|nucleus|soluble fraction				large_intestine(1)	1		all_hematologic(541;4.8e-07)|all_lung(500;0.000434)|Lung NSC(810;0.00161)|Breast(839;0.128)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACAAGAAGGGGCCCTTAGGCC	0.498													3	7					0	0	1	0	0	A	140041219	G	A	140041219	2	1	81	1	0	0	0	0	0	0	0	1	7652	1190	42	2		2	IK	5	140041219	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	17842	140041219	40874041	4686	8302											
WDR55	54853	broad.mit.edu	37	5	140049100	140049100	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140049100G>A	ENST00000358337.5	+	7	1250	c.1013G>A	c.(1012-1014)cGc>cAc	p.R338H	WDR55_ENST00000520764.1_3'UTR	NM_017706.4	NP_060176	Q9H6Y2	WDR55_HUMAN	WD repeat domain 55	338					rRNA processing	cytoplasm|nucleolus		p.R338H(1)		NS(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TACCGTCGGCGCAAAAAAAAG	0.592													5	13					0	0	1	0	0	A	140049100	G	A	140049100	3	1	81	1	0	0	0	0	1	0	0	0	17367	1087	38	1	1039	1	WDR55	5	140049100	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	7881	140049100	40866160	4687	8303											
HARS	3035	broad.mit.edu	37	5	140056271	140056271	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140056271G>A	ENST00000504366.1	-	9	2774	c.955C>T	c.(955-957)Cgg>Tgg	p.R319W	HARS_ENST00000307633.3_Missense_Mutation_p.R328W|HARS_ENST00000431330.2_Missense_Mutation_p.R274W|HARS_ENST00000415192.2_Missense_Mutation_p.R314W|HARS_ENST00000457527.2_Missense_Mutation_p.R368W|HARS_ENST00000504156.1_Missense_Mutation_p.R388W|HARS_ENST00000448240.1_Missense_Mutation_p.R193W|HARS_ENST00000438307.2_Missense_Mutation_p.R348W			P12081	SYHC_HUMAN	histidyl-tRNA synthetase	388					histidyl-tRNA aminoacylation	cytosol	ATP binding|histidine-tRNA ligase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	19			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		L-Histidine(DB00117)	GAGAAAATCCGCTCCACCCCA	0.562													75	65					0	0	1	0	0	A	140056271	G	A	140056271	3	1	81	1	0	0	0	0	1	0	0	0	7000	1086	38	1	383	1	HARS	5	140056271	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	7171	140056271	40858989	4688	8304											
HARS2	23438	broad.mit.edu	37	5	140075366	140075366	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140075366C>T	ENST00000230771.3	+	6	792	c.569C>T	c.(568-570)gCa>gTa	p.A190V	HARS2_ENST00000435019.2_Missense_Mutation_p.A150V|HARS2_ENST00000432671.2_Missense_Mutation_p.A76V|HARS2_ENST00000508522.1_Missense_Mutation_p.A165V|HARS2_ENST00000448069.2_Missense_Mutation_p.A51V|HARS2_ENST00000437649.2_Missense_Mutation_p.A116V	NM_012208.2	NP_036340.1	P49590	SYHM_HUMAN	histidyl-tRNA synthetase 2, mitochondrial	190					histidyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|histidine-tRNA ligase activity			NS(1)|endometrium(3)|large_intestine(5)|lung(10)	19			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATCCCCGATGCAGAGTGTTTG	0.448													41	98					0	0	1	0	0	T	140075366	C	T	140075366	3	4	81	1	0	0	0	0	1	0	0	0	7001	710	25	2	591	2	HARS2	5	140075366	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	19095	140075366	40839894	4689	8305											
ZMAT2	153527	broad.mit.edu	37	5	140085217	140085217	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140085217A>G	ENST00000274712.3	+	6	603	c.476A>G	c.(475-477)tAc>tGc	p.Y159C		NM_144723.1	NP_653324.1	Q96NC0	ZMAT2_HUMAN	zinc finger, matrin-type 2	159						nucleus	DNA binding|zinc ion binding			breast(2)|kidney(2)|large_intestine(1)|liver(1)|lung(2)	8			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			gccaaagcgtacaagaaagag	0.458													5	26					0	0	1	0	0	G	140085217	A	G	140085217	3	3	81	1	0	0	0	0	1	0	0	0	17750	391	14	3	498	3	ZMAT2	5	140085217	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	9851	140085217	40830043	4690	8306											
PCDHA1	56147	broad.mit.edu	37	5	140165879	140165879	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140165879G>A	ENST00000504120.2	+	1	4	c.4G>A	c.(4-6)Gtg>Atg	p.V2M	PCDHA1_ENST00000378133.3_Missense_Mutation_p.V2M|PCDHA1_ENST00000394633.3_Missense_Mutation_p.V2M	NM_018900.2	NP_061723.1														breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTTTGCAATGGTGTTTTCTAG	0.483													48	87					0	0	1	0	0	A	140165879	G	A	140165879	3	1	81	1	0	0	0	0	1	0	0	0	11566	1261	44	2	6	2	PCDHA1	5	140165879	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	80662	140165879	40749381	4691	8307											
PCDHA1	56147	broad.mit.edu	37	5	140167108	140167108	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140167108C>T	ENST00000504120.2	+	1	1233	c.1233C>T	c.(1231-1233)agC>agT	p.S411S	PCDHA1_ENST00000378133.3_Silent_p.S411S|PCDHA1_ENST00000394633.3_Silent_p.S411S	NM_018900.2	NP_061723.1														breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTTGGACAGCGCCCTGGATC	0.632													23	105					0	0	1	0	0	T	140167108	C	T	140167108	2	4	81	1	0	0	0	0	0	0	0	1	11566	767	27	1		1	PCDHA1	5	140167108	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1229	140167108	40748152	4692	8308											
PCDHA1	56147	broad.mit.edu	37	5	140167237	140167237	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140167237G>A	ENST00000504120.2	+	1	1362	c.1362G>A	c.(1360-1362)gcG>gcA	p.A454A	PCDHA1_ENST00000378133.3_Silent_p.A454A|PCDHA1_ENST00000394633.3_Silent_p.A454A	NM_018900.2	NP_061723.1												p.A454A(2)		breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACGCGCCTGCGTTCGCGCAGC	0.677													31	46					0	0	1	0	0	A	140167237	G	A	140167237	2	1	81	1	0	0	0	0	0	0	0	1	11566	1132	40	1		1	PCDHA1	5	140167237	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	129	140167237	40748023	4693	8309											
PCDHA2	56146	broad.mit.edu	37	5	140175795	140175795	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140175795G>A	ENST00000526136.1	+	1	1246	c.1246G>A	c.(1246-1248)Gag>Aag	p.E416K	PCDHA2_ENST00000378132.1_Missense_Mutation_p.E416K|PCDHA2_ENST00000520672.2_Missense_Mutation_p.E416K|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018905.2	NP_061728.1														NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTGGACCGCGAGAGCGTGTC	0.627													46	76					0	0	1	0	0	A	140175795	G	A	140175795	3	1	81	1	0	0	0	0	1	0	0	0	11571	1059	37	1	1248	1	PCDHA2	5	140175795	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	8558	140175795	40739465	4694	8310											
PCDHA3	56145	broad.mit.edu	37	5	140182354	140182354	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140182354C>T	ENST00000522353.2	+	1	1572	c.1572C>T	c.(1570-1572)gaC>gaT	p.D524D	PCDHA3_ENST00000532566.2_Silent_p.D524D|PCDHA2_ENST00000520672.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018906.2	NP_061729.1														NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCCGCTGGACCACGAGGAGC	0.687													5	115					0	0	1	0	0	T	140182354	C	T	140182354	2	4	81	1	0	0	0	0	0	0	0	1	11572	506	18	2		2	PCDHA3	5	140182354	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	6559	140182354	40732906	4695	8311											
PCDHA3	56145	broad.mit.edu	37	5	140182502	140182502	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140182502G>A	ENST00000522353.2	+	1	1720	c.1720G>A	c.(1720-1722)Ggt>Agt	p.G574S	PCDHA3_ENST00000532566.2_Missense_Mutation_p.G574S|PCDHA2_ENST00000520672.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018906.2	NP_061729.1														NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGTGGCATCGGTGGCGCAGT	0.682													7	69					0	0	1	0	0	A	140182502	G	A	140182502	3	1	81	1	0	0	0	0	1	0	0	0	11572	1116	39	1	1722	1	PCDHA3	5	140182502	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	148	140182502	40732758	4696	8312											
PCDHA3	56145	broad.mit.edu	37	5	140182645	140182645	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140182645G>A	ENST00000522353.2	+	1	1863	c.1863G>A	c.(1861-1863)ccG>ccA	p.P621P	PCDHA3_ENST00000532566.2_Silent_p.P621P|PCDHA2_ENST00000520672.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018906.2	NP_061729.1												p.P621P(2)		NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCGCATCCCGTTTCGCGTGG	0.667													5	54					0	0	1	0	0	A	140182645	G	A	140182645	2	1	81	1	0	0	0	0	0	0	0	1	11572	1132	40	1		1	PCDHA3	5	140182645	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	143	140182645	40732615	4697	8313											
PCDHA5	56143	broad.mit.edu	37	5	140201478	140201478	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140201478C>T	ENST00000529859.1	+	1	118	c.118C>T	c.(118-120)Cac>Tac	p.H40Y	PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Missense_Mutation_p.H40Y|PCDHA5_ENST00000378126.3_Missense_Mutation_p.H40Y|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018908.2	NP_061731.1														NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGAAGCCAAACACGGAACCTT	0.672													10	67					0	0	1	0	0	T	140201478	C	T	140201478	3	4	81	1	0	0	0	0	1	0	0	0	11574	478	17	2	120	2	PCDHA5	5	140201478	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	18833	140201478	40713782	4698	8314											
PCDHA5	56143	broad.mit.edu	37	5	140202078	140202078	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140202078G>A	ENST00000529859.1	+	1	718	c.718G>A	c.(718-720)Gaa>Aaa	p.E240K	PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Missense_Mutation_p.E240K|PCDHA5_ENST00000378126.3_Missense_Mutation_p.E240K|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018908.2	NP_061731.1														NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TAACGCCCCAGAATTTGATAA	0.388													39	50					0	0	1	0	0	A	140202078	G	A	140202078	3	1	81	1	0	0	0	0	1	0	0	0	11574	943	33	2	720	2	PCDHA5	5	140202078	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	600	140202078	40713182	4699	8315											
PCDHA5	56143	broad.mit.edu	37	5	140203007	140203007	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140203007G>A	ENST00000529859.1	+	1	1647	c.1647G>A	c.(1645-1647)acG>acA	p.T549T	PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Silent_p.T549T|PCDHA5_ENST00000378126.3_Silent_p.T549T|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018908.2	NP_061731.1														NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCAACGTGACGCTGCAGGTGT	0.701													32	55					0	0	1	0	0	A	140203007	G	A	140203007	2	1	81	1	0	0	0	0	0	0	0	1	11574	1074	38	1		1	PCDHA5	5	140203007	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	929	140203007	40712253	4700	8316											
PCDHA6	56142	broad.mit.edu	37	5	140209489	140209489	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140209489G>A	ENST00000529310.1	+	1	1927	c.1813G>A	c.(1813-1815)Gcg>Acg	p.A605T	PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018909.2|NM_031848.2|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1														NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGCTACAACGCGTGGCTTTC	0.652													16	31					0	0	1	0	0	A	140209489	G	A	140209489	3	1	81	1	0	0	0	0	1	0	0	0	11575	1087	38	1	1815	1	PCDHA6	5	140209489	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	6482	140209489	40705771	4701	8317											
PCDHA6	56142	broad.mit.edu	37	5	140209564	140209564	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140209564G>A	ENST00000529310.1	+	1	2002	c.1888G>A	c.(1888-1890)Gag>Aag	p.E630K	PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018909.2|NM_031848.2|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1														NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTACACGGGCGAGATCAGCAC	0.662													7	65					0	0	1	0	0	A	140209564	G	A	140209564	3	1	81	1	0	0	0	0	1	0	0	0	11575	1059	37	1	1890	1	PCDHA6	5	140209564	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	75	140209564	40705696	4702	8318											
PCDHA7	56141	broad.mit.edu	37	5	140214409	140214409	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140214409G>A	ENST00000525929.1	+	1	441	c.441G>A	c.(439-441)ccG>ccA	p.P147P	PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA7_ENST00000378125.3_Silent_p.P147P|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018910.2	NP_061733.1														NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AATCCAGGCCGCTTGACTCTC	0.547													24	25					0	0	1	0	0	A	140214409	G	A	140214409	2	1	81	1	0	0	0	0	0	0	0	1	11576	1074	38	1		1	PCDHA7	5	140214409	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	4845	140214409	40700851	4703	8319											
PCDHA7	56141	broad.mit.edu	37	5	140215580	140215580	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140215580C>T	ENST00000525929.1	+	1	1612	c.1612C>T	c.(1612-1614)Cgc>Tgc	p.R538C	PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA7_ENST00000378125.3_Missense_Mutation_p.R538C|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018910.2	NP_061733.1														NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTGAGCGCGCGCGATGCGGG	0.682													40	77					0	0	1	0	0	T	140215580	C	T	140215580	3	4	81	1	0	0	0	0	1	0	0	0	11576	768	27	1	1614	1	PCDHA7	5	140215580	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1171	140215580	40699680	4704	8320											
PCDHA8	56140	broad.mit.edu	37	5	140222793	140222793	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140222793C>T	ENST00000531613.1	+	1	1887	c.1887C>T	c.(1885-1887)ggC>ggT	p.G629G	PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000378123.3_Silent_p.G629G|PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018911.2	NP_061734.1														NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTACACGGGCGAGATCAGCA	0.652													8	113					0	0	1	0	0	T	140222793	C	T	140222793	2	4	81	1	0	0	0	0	0	0	0	1	11577	755	27	1		1	PCDHA8	5	140222793	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	7213	140222793	40692467	4705	8321											
PCDHA9	9752	broad.mit.edu	37	5	140229842	140229842	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140229842G>A	ENST00000378122.3	+	1	2486	c.1762G>A	c.(1762-1764)Ggc>Agc	p.G588S	PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Missense_Mutation_p.G588S|PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron	NM_014005.3	NP_054724.1														breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTGGGCGCCGGCGTAGTGGT	0.677													4	55					0	0	1	0	0	A	140229842	G	A	140229842	3	1	81	1	0	0	0	0	1	0	0	0	11578	1116	39	1	1764	1	PCDHA9	5	140229842	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	7049	140229842	40685418	4706	8322											
PCDHA10	56139	broad.mit.edu	37	5	140235801	140235801	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140235801G>A	ENST00000307360.5	+	1	168	c.168G>A	c.(166-168)gcG>gcA	p.A56A	PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA10_ENST00000506939.2_Silent_p.A56A|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018901.2	NP_061724.1												p.A56A(2)		NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGAGCTGGCGGAGCTGGTGC	0.617													46	53					0	0	1	0	0	A	140235801	G	A	140235801	2	1	81	1	0	0	0	0	0	0	0	1	11567	1103	39	1		1	PCDHA10	5	140235801	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	5959	140235801	40679459	4707	8323											
PCDHA10	56139	broad.mit.edu	37	5	140236494	140236494	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140236494G>A	ENST00000307360.5	+	1	861	c.861G>A	c.(859-861)acG>acA	p.T287T	PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA10_ENST00000506939.2_Silent_p.T287T|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018901.2	NP_061724.1														NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCCACCCACGATAAGAAGGA	0.363													32	52					0	0	1	0	0	A	140236494	G	A	140236494	2	1	81	1	0	0	0	0	0	0	0	1	11567	1045	37	1		1	PCDHA10	5	140236494	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	693	140236494	40678766	4708	8324											
PCDHA10	56139	broad.mit.edu	37	5	140237081	140237081	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140237081C>T	ENST00000307360.5	+	1	1448	c.1448C>T	c.(1447-1449)gCg>gTg	p.A483V	PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA10_ENST00000506939.2_Missense_Mutation_p.A483V|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018901.2	NP_061724.1														NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACGCGGACGCGCAGGAGAAC	0.662													24	68					0	0	1	0	0	T	140237081	C	T	140237081	3	4	81	1	0	0	0	0	1	0	0	0	11567	768	27	1	1450	1	PCDHA10	5	140237081	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	587	140237081	40678179	4709	8325											
PCDHA11	56138	broad.mit.edu	37	5	140249195	140249195	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140249195C>A	ENST00000398640.2	+	1	507	c.507C>A	c.(505-507)acC>acA	p.T169T	PCDHA4_ENST00000530339.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron	NM_018902.3	NP_061725.1														breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCTATTGACCTACAGGCTAA	0.388													14	134					6.31663e-08	7.44777e-08	1	1	0	A	140249195	C	A	140249195	2	1	81	1	0	0	0	0	0	0	0	1	11568	668	24	4		4	PCDHA11	5	140249195	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	12114	140249195	40666065	4710	8326											
PCDHA11	56138	broad.mit.edu	37	5	140249367	140249367	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140249367C>T	ENST00000398640.2	+	1	679	c.679C>T	c.(679-681)Cgg>Tgg	p.R227W	PCDHA4_ENST00000530339.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron	NM_018902.3	NP_061725.1														breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGCACCGTTCGGCTGTTAGT	0.413													8	8					0	0	1	0	0	T	140249367	C	T	140249367	3	4	81	1	0	0	0	0	1	0	0	0	11568	875	31	1	681	1	PCDHA11	5	140249367	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	172	140249367	40665893	4711	8327											
PCDHA11	56138	broad.mit.edu	37	5	140249965	140249965	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140249965C>T	ENST00000398640.2	+	1	1277	c.1277C>T	c.(1276-1278)gCg>gTg	p.A426V	PCDHA4_ENST00000530339.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron	NM_018902.3	NP_061725.1														breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGGTGACTGCGCGGGATGGG	0.622													44	75					0	0	1	0	0	T	140249965	C	T	140249965	3	4	81	1	0	0	0	0	1	0	0	0	11568	768	27	1	1279	1	PCDHA11	5	140249965	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	598	140249965	40665295	4712	8328											
PCDHA11	56138	broad.mit.edu	37	5	140250150	140250150	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140250150C>T	ENST00000398640.2	+	1	1462	c.1462C>T	c.(1462-1464)Ctg>Ttg	p.L488L	PCDHA4_ENST00000530339.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron	NM_018902.3	NP_061725.1														breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGAGAACGCGCTGGTGTCCTA	0.677													34	65					0	0	1	0	0	T	140250150	C	T	140250150	2	4	81	1	0	0	0	0	0	0	0	1	11568	796	28	2		2	PCDHA11	5	140250150	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	185	140250150	40665110	4713	8329											
PCDHA11	56138	broad.mit.edu	37	5	140250251	140250251	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140250251G>A	ENST00000398640.2	+	1	1563	c.1563G>A	c.(1561-1563)ccG>ccA	p.P521P	PCDHA4_ENST00000530339.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron	NM_018902.3	NP_061725.1														breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCTGCAGCCGTTGGACCACG	0.682													5	97					0	0	1	0	0	A	140250251	G	A	140250251	2	1	81	1	0	0	0	0	0	0	0	1	11568	1132	40	1		1	PCDHA11	5	140250251	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	101	140250251	40665009	4714	8330											
PCDHA12	56137	broad.mit.edu	37	5	140257242	140257242	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140257242G>A	ENST00000398631.2	+	1	2185	c.2185G>A	c.(2185-2187)Gtg>Atg	p.V729M	PCDHA4_ENST00000530339.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron	NM_018903.2|NM_031864.2	NP_061726.1|NP_114070.1														NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCGCCCACCGTGAGCCGGTG	0.647													18	11					0	0	1	0	0	A	140257242	G	A	140257242	3	1	81	1	0	0	0	0	1	0	0	0	11569	1145	40	1	2187	1	PCDHA12	5	140257242	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	6991	140257242	40658018	4715	8331											
PCDHA13	56136	broad.mit.edu	37	5	140261984	140261984	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140261984T>C	ENST00000289272.2	+	1	131	c.131T>C	c.(130-132)tTc>tCc	p.F44S	PCDHA4_ENST00000530339.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA13_ENST00000409494.1_Missense_Mutation_p.F44S|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA12_ENST00000398631.2_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1														NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACGGCACCTTCGTGGGCCGC	0.657													5	112					0	0	1	0	0	C	140261984	T	C	140261984	3	2	81	1	0	0	0	0	1	0	0	0	11570	1783	62	3	133	3	PCDHA13	5	140261984	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	4742	140261984	40653276	4716	8332											
PCDHA13	56136	broad.mit.edu	37	5	140263264	140263264	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140263264G>A	ENST00000289272.2	+	1	1411	c.1411G>A	c.(1411-1413)Ggc>Agc	p.G471S	PCDHA4_ENST00000530339.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA13_ENST00000409494.1_Missense_Mutation_p.G471S|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA12_ENST00000398631.2_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1														NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAATCCGCCGGGCTGCCACAT	0.677													22	57					0	0	1	0	0	A	140263264	G	A	140263264	3	1	81	1	0	0	0	0	1	0	0	0	11570	1232	43	2	1413	2	PCDHA13	5	140263264	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1280	140263264	40651996	4717	8333											
PCDHAC1	56135	broad.mit.edu	37	5	140307659	140307659	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140307659C>A	ENST00000253807.2	+	1	1182	c.1182C>A	c.(1180-1182)taC>taA	p.Y394*	PCDHA4_ENST00000530339.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHAC1_ENST00000409700.3_Nonsense_Mutation_p.Y394*|PCDHA11_ENST00000398640.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA12_ENST00000398631.2_Intron	NM_018898.3	NP_061721.2														NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	65			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTGACAACTACTACAGCCTGC	0.517													4	22					0.00909568	0.00944708	1	1	0	A	140307659	C	A	140307659	4	1	81	1	0	0	0	0	0	1	0	0	11579	576	20	4	1184	4	PCDHAC1	5	140307659	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	44395	140307659	40607601	4718	8334											
PCDHAC1	56135	broad.mit.edu	37	5	140308746	140308746	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140308746C>T	ENST00000253807.2	+	1	2269	c.2269C>T	c.(2269-2271)Cgg>Tgg	p.R757W	PCDHA4_ENST00000530339.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHAC1_ENST00000409700.3_Missense_Mutation_p.R757W|PCDHA11_ENST00000398640.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA12_ENST00000398631.2_Intron	NM_018898.3	NP_061721.2														NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	65			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTATCTCTATCGGGCCTCTCT	0.473													34	57					0	0	1	0	0	T	140308746	C	T	140308746	3	4	81	1	0	0	0	0	1	0	0	0	11579	875	31	1	2271	1	PCDHAC1	5	140308746	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1087	140308746	40606514	4719	8335											
PCDHAC2	56134	broad.mit.edu	37	5	140347082	140347082	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140347082C>T	ENST00000289269.5	+	1	1263	c.731C>T	c.(730-732)tCt>tTt	p.S244F	PCDHA4_ENST00000530339.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHAC1_ENST00000253807.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA12_ENST00000398631.2_Intron	NM_018899.5|NM_031883.2	NP_061722.1|NP_114089.1	Q9Y5I4	PCDC2_HUMAN		244	Cadherin 2.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCACAGATCTCTGTGCGTGTC	0.622													24	50					0	0	1	0	0	T	140347082	C	T	140347082	3	4	81	1	0	0	0	0	1	0	0	0	11580	913	32	2	733	2	PCDHAC2	5	140347082	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	38336	140347082	40568178	4720	8336											
PCDHAC2	56134	broad.mit.edu	37	5	140347266	140347266	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140347266G>A	ENST00000289269.5	+	1	1447	c.915G>A	c.(913-915)agG>agA	p.R305R	PCDHA4_ENST00000530339.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHAC1_ENST00000253807.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA12_ENST00000398631.2_Intron	NM_018899.5|NM_031883.2	NP_061722.1|NP_114089.1	Q9Y5I4	PCDC2_HUMAN		305	Cadherin 3.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACCGGGAGAGGCAGCTCTTCA	0.572													8	15					0	0	1	0	0	A	140347266	G	A	140347266	2	1	81	1	0	0	0	0	0	0	0	1	11580	1194	42	2		2	PCDHAC2	5	140347266	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	184	140347266	40567994	4721	8337											
PCDHAC2	56134	broad.mit.edu	37	5	140347359	140347359	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140347359G>T	ENST00000289269.5	+	1	1540	c.1008G>T	c.(1006-1008)caG>caT	p.Q336H	PCDHA4_ENST00000530339.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHAC1_ENST00000253807.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA12_ENST00000398631.2_Intron	NM_018899.5|NM_031883.2	NP_061722.1|NP_114089.1	Q9Y5I4	PCDC2_HUMAN		336	Cadherin 3.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTATGTGCAGGCGACTGACC	0.592													4	20					1.23904e-05	1.39156e-05	1	1	0	T	140347359	G	T	140347359	3	4	81	1	0	0	0	0	1	0	0	0	11580	991	35	4	1010	4	PCDHAC2	5	140347359	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	93	140347359	40567901	4722	8338											
PCDHAC2	56134	broad.mit.edu	37	5	140347585	140347585	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140347585C>T	ENST00000289269.5	+	1	1766	c.1234C>T	c.(1234-1236)Ctg>Ttg	p.L412L	PCDHA4_ENST00000530339.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHAC1_ENST00000253807.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA12_ENST00000398631.2_Intron	NM_018899.5|NM_031883.2	NP_061722.1|NP_114089.1	Q9Y5I4	PCDC2_HUMAN		412	Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCTTTCCGACTGAATGGCTT	0.577													7	86					0	0	1	0	0	T	140347585	C	T	140347585	2	4	81	1	0	0	0	0	0	0	0	1	11580	564	20	2		2	PCDHAC2	5	140347585	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	226	140347585	40567675	4723	8339											
PCDHB1	29930	broad.mit.edu	37	5	140431571	140431571	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140431571G>A	ENST00000306549.3	+	1	593	c.516G>A	c.(514-516)ctG>ctA	p.L172L		NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN		172	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACTACACCCTGAGTGCCAATG	0.562													6	37					0	0	1	0	0	A	140431571	G	A	140431571	2	1	81	1	0	0	0	0	0	0	0	1	11581	1277	45	2		2	PCDHB1	5	140431571	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	83986	140431571	40483689	4724	8340											
PCDHB1	29930	broad.mit.edu	37	5	140432410	140432410	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140432410T>C	ENST00000306549.3	+	1	1432	c.1355T>C	c.(1354-1356)tTt>tCt	p.F452S		NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN		452	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCTCCAATATTTCGGGAAGAT	0.433													5	88					0	0	1	0	0	C	140432410	T	C	140432410	3	2	81	1	0	0	0	0	1	0	0	0	11581	1841	64	3	1357	3	PCDHB1	5	140432410	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	839	140432410	40482850	4725	8341											
PCDHB2	56133	broad.mit.edu	37	5	140474606	140474606	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140474606C>T	ENST00000194155.4	+	1	380	c.232C>T	c.(232-234)Cag>Tag	p.Q78*		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN		78	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AATGCATTTGCAGTTCGATAG	0.512													15	39					0	0	1	0	0	T	140474606	C	T	140474606	4	4	81	1	0	0	0	0	0	1	0	0	11589	711	25	2	234	2	PCDHB2	5	140474606	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	42196	140474606	40440654	4726	8342											
PCDHB2	56133	broad.mit.edu	37	5	140475165	140475165	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140475165C>T	ENST00000194155.4	+	1	939	c.791C>T	c.(790-792)gCc>gTc	p.A264V		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN		264	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCCCAGGTTGCCATCGTCTCT	0.468													28	57					0	0	1	0	0	T	140475165	C	T	140475165	3	4	81	1	0	0	0	0	1	0	0	0	11589	739	26	2	793	2	PCDHB2	5	140475165	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	559	140475165	40440095	4727	8343											
PCDHB2	56133	broad.mit.edu	37	5	140475745	140475745	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140475745C>A	ENST00000194155.4	+	1	1519	c.1371C>A	c.(1369-1371)tcC>tcA	p.S457S		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN		457					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCCAAACCTCCTACACCCTGT	0.622													10	82					2.74318e-10	3.35469e-10	1	1	0	A	140475745	C	A	140475745	2	1	81	1	0	0	0	0	0	0	0	1	11589	668	24	4		4	PCDHB2	5	140475745	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	580	140475745	40439515	4728	8344											
PCDHB2	56133	broad.mit.edu	37	5	140476722	140476722	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140476722G>A	ENST00000194155.4	+	1	2496	c.2348G>A	c.(2347-2349)aGg>aAg	p.R783K		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN		783					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGTGCAGAGAGGGTTAGCGAG	0.468													9	100					0	0	1	0	0	A	140476722	G	A	140476722	3	1	81	1	0	0	0	0	1	0	0	0	11589	1000	35	2	2350	2	PCDHB2	5	140476722	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	977	140476722	40438538	4729	8345											
PCDHB3	56132	broad.mit.edu	37	5	140481938	140481938	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140481938T>C	ENST00000231130.2	+	1	1705	c.1705T>C	c.(1705-1707)Tcc>Ccc	p.S569P		NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN		569	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCAGAACGGCTCCGCGCCCTG	0.716													5	51					0	0	1	0	0	C	140481938	T	C	140481938	3	2	81	1	0	0	0	0	1	0	0	0	11590	1551	54	3	1707	3	PCDHB3	5	140481938	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	5216	140481938	40433322	4730	8346											
PCDHB4	56131	broad.mit.edu	37	5	140501652	140501652	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140501652G>T	ENST00000194152.1	+	1	72	c.72G>T	c.(70-72)caG>caT	p.Q24H		NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN		24					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCTTGTCTCAGGTTCGCCTCG	0.498													12	31					0.00185496	0.00197056	1	1	0	T	140501652	G	T	140501652	3	4	81	1	0	0	0	0	1	0	0	0	11591	991	35	4	74	4	PCDHB4	5	140501652	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	19714	140501652	40413608	4731	8347											
PCDHB4	56131	broad.mit.edu	37	5	140502941	140502941	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140502941C>T	ENST00000194152.1	+	1	1361	c.1361C>T	c.(1360-1362)tCc>tTc	p.S454F		NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN		454					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACCCAAACCTCCTACACCCTG	0.617													20	46					0	0	1	0	0	T	140502941	C	T	140502941	3	4	81	1	0	0	0	0	1	0	0	0	11591	855	30	2	1363	2	PCDHB4	5	140502941	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1289	140502941	40412319	4732	8348											
PCDHB4	56131	broad.mit.edu	37	5	140503114	140503114	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140503114C>A	ENST00000194152.1	+	1	1534	c.1534C>A	c.(1534-1536)Ctg>Atg	p.L512M		NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN		512	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CAACGGCCACCTGTTCGCCCT	0.692													23	53					9.73076e-26	1.28862e-25	1	1	0	A	140503114	C	A	140503114	3	1	81	1	0	0	0	0	1	0	0	0	11591	680	24	4	1536	4	PCDHB4	5	140503114	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	173	140503114	40412146	4733	8349											
PCDHB4	56131	broad.mit.edu	37	5	140503618	140503618	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140503618G>A	ENST00000194152.1	+	1	2038	c.2038G>A	c.(2038-2040)Gcc>Acc	p.A680T		NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN		680					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCCGGCCCAGGCCCAGGCCGA	0.701													36	58					0	0	1	0	0	A	140503618	G	A	140503618	3	1	81	1	0	0	0	0	1	0	0	0	11591	1203	42	2	2040	2	PCDHB4	5	140503618	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	504	140503618	40411642	4734	8350											
PCDHB5	26167	broad.mit.edu	37	5	140515416	140515416	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140515416C>T	ENST00000231134.5	+	1	617	c.400C>T	c.(400-402)Cca>Tca	p.P134S		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN		134					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCCAGAGTTCCCAGAGAAGGA	0.443													22	44					0	0	1	0	0	T	140515416	C	T	140515416	3	4	81	1	0	0	0	0	1	0	0	0	11592	623	22	2	402	2	PCDHB5	5	140515416	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	11798	140515416	40399844	4735	8351											
PCDHB5	26167	broad.mit.edu	37	5	140516912	140516912	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140516912C>T	ENST00000231134.5	+	1	2113	c.1896C>T	c.(1894-1896)cgC>cgT	p.R632R		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN		632	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGAGCGAGCGCGACGCGGCCA	0.692													32	24					0	0	1	0	0	T	140516912	C	T	140516912	2	4	81	1	0	0	0	0	0	0	0	1	11592	755	27	1		1	PCDHB5	5	140516912	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1496	140516912	40398348	4736	8352											
PCDHB6	56130	broad.mit.edu	37	5	140531705	140531705	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140531705C>T	ENST00000231136.1	+	1	1867	c.1867C>T	c.(1867-1869)Cgc>Tgc	p.R623C	PCDHB6_ENST00000543635.1_Missense_Mutation_p.R487C	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN		623	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGGCGAGGTGCGCACCGCCAG	0.687													16	23					0	0	1	0	0	T	140531705	C	T	140531705	3	4	81	1	0	0	0	0	1	0	0	0	11593	768	27	1	1869	1	PCDHB6	5	140531705	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	14793	140531705	40383555	4737	8353											
PCDHB7	56129	broad.mit.edu	37	5	140552833	140552833	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140552833C>A	ENST00000231137.3	+	1	591	c.417C>A	c.(415-417)tcC>tcA	p.S139S		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN		139	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GAGAGATTTCCTTGAAAATAT	0.428													32	44					6.97489e-18	9.02363e-18	1	1	0	A	140552833	C	A	140552833	2	1	81	1	0	0	0	0	0	0	0	1	11594	668	24	4		4	PCDHB7	5	140552833	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	21128	140552833	40362427	4738	8354											
PCDHB7	56129	broad.mit.edu	37	5	140553826	140553826	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140553826C>T	ENST00000231137.3	+	1	1584	c.1410C>T	c.(1408-1410)atC>atT	p.I470I		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN		470	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCCTGCCCATCGGCAGTGTCA	0.642													25	55					0	0	1	0	0	T	140553826	C	T	140553826	2	4	81	1	0	0	0	0	0	0	0	1	11594	874	31	1		1	PCDHB7	5	140553826	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	993	140553826	40361434	4739	8355											
PCDHB7	56129	broad.mit.edu	37	5	140554240	140554240	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140554240G>A	ENST00000231137.3	+	1	1998	c.1824G>A	c.(1822-1824)aaG>aaA	p.K608K		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN		608	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGCTGCTCAAGGCCACGGAGC	0.711													9	81					0	0	1	0	0	A	140554240	G	A	140554240	2	1	81	1	0	0	0	0	0	0	0	1	11594	991	35	2		2	PCDHB7	5	140554240	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	414	140554240	40361020	4740	8356											
PCDHB7	56129	broad.mit.edu	37	5	140554318	140554318	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140554318C>T	ENST00000231137.3	+	1	2076	c.1902C>T	c.(1900-1902)gaC>gaT	p.D634D		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN		634	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCGAGCGCGACGCAGCCAAGC	0.692													23	87					0	0	1	0	0	T	140554318	C	T	140554318	2	4	81	1	0	0	0	0	0	0	0	1	11594	535	19	1		1	PCDHB7	5	140554318	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	78	140554318	40360942	4741	8357											
PCDHB16	57717	broad.mit.edu	37	5	140562669	140562669	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140562669C>T	ENST00000361016.2	+	1	1690	c.535C>T	c.(535-537)Cgg>Tgg	p.R179W		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN		179	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTCTCATTTCCGGGTTCTAAT	0.448													21	20					0	0	1	0	0	T	140562669	C	T	140562669	3	4	81	1	0	0	0	0	1	0	0	0	11588	643	23	1	537	1	PCDHB16	5	140562669	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	8351	140562669	40352591	4742	8358											
PCDHB16	57717	broad.mit.edu	37	5	140562776	140562776	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140562776G>A	ENST00000361016.2	+	1	1797	c.642G>A	c.(640-642)gcG>gcA	p.A214A		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN		214	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCCTGACAGCGCTGGATGGTG	0.502													24	38					0	0	1	0	0	A	140562776	G	A	140562776	2	1	81	1	0	0	0	0	0	0	0	1	11588	1074	38	1		1	PCDHB16	5	140562776	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	107	140562776	40352484	4743	8359											
PCDHB16	57717	broad.mit.edu	37	5	140564037	140564037	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140564037G>A	ENST00000361016.2	+	1	3058	c.1903G>A	c.(1903-1905)Gca>Aca	p.A635T		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN		635	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGAGCGCGACGCAGCCAAGCA	0.692													9	56					0	0	1	0	0	A	140564037	G	A	140564037	3	1	81	1	0	0	0	0	1	0	0	0	11588	1087	38	1	1905	1	PCDHB16	5	140564037	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1261	140564037	40351223	4744	8360											
PCDHB10	56126	broad.mit.edu	37	5	140572975	140572975	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140572975G>A	ENST00000239446.4	+	1	1034	c.850G>A	c.(850-852)Gcc>Acc	p.A284T		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN		284	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ATTTTTTGATGCCTCAGAAAA	0.378													30	52					0	0	1	0	0	A	140572975	G	A	140572975	3	1	81	1	0	0	0	0	1	0	0	0	11582	1319	46	2	852	2	PCDHB10	5	140572975	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	8938	140572975	40342285	4745	8361											
PCDHB10	56126	broad.mit.edu	37	5	140574228	140574228	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140574228G>A	ENST00000239446.4	+	1	2287	c.2103G>A	c.(2101-2103)tcG>tcA	p.S701S		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN		701					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGGTGTCTTCGCTCTTCCTCC	0.706													45	67					0	0	1	0	0	A	140574228	G	A	140574228	2	1	81	1	0	0	0	0	0	0	0	1	11582	1074	38	1		1	PCDHB10	5	140574228	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1253	140574228	40341032	4746	8362											
PCDHB12	56124	broad.mit.edu	37	5	140589847	140589847	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140589847C>T	ENST00000239450.2	+	1	1557	c.1368C>T	c.(1366-1368)taC>taT	p.Y456Y	PCDHB12_ENST00000541609.1_Silent_p.Y119Y	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN		456	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AAACTTCCTACGCCCTGTTCG	0.612													32	34					0	0	1	0	0	T	140589847	C	T	140589847	2	4	81	1	0	0	0	0	0	0	0	1	11584	547	19	1		1	PCDHB12	5	140589847	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	15619	140589847	40325413	4747	8363											
PCDHB12	56124	broad.mit.edu	37	5	140590516	140590516	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140590516C>T	ENST00000239450.2	+	1	2226	c.2037C>T	c.(2035-2037)gcC>gcT	p.A679A	PCDHB12_ENST00000541609.1_Silent_p.A342A	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN		679					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGGCCCCGGCCCAGGCCCAGG	0.701													38	45					0	0	1	0	0	T	140590516	C	T	140590516	2	4	81	1	0	0	0	0	0	0	0	1	11584	610	22	2		2	PCDHB12	5	140590516	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	669	140590516	40324744	4748	8364											
PCDHB13	56123	broad.mit.edu	37	5	140594043	140594044	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140594043_140594044insT	ENST00000341948.4	+	1	535_536	c.348_349insT	c.(349-351)tttfs	p.F117fs		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN		117	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GTCCCTTCGAGTTTTTTCAAGC	0.46													8	23	---	---	---	---						T	140594044	-	T	140594043	7	5	81	1	0	1	1	0	0	0	0	0	11585	1020	36	0	350	0	PCDHB13	5	140594043	Frame_Shift_Ins	INS	-	TCGA-DU-6392-01A-11D-1705-08	3527	140594043	40321217	4749	8365											
PCDHB14	56122	broad.mit.edu	37	5	140603415	140603415	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140603415C>A	ENST00000239449.4	+	1	338	c.338C>A	c.(337-339)cCt>cAt	p.P113H	PCDHB14_ENST00000515856.2_Intron	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN		113	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTGGAAAACCCTTTACAGTTT	0.428													11	139					7.03913e-09	8.42519e-09	1	1	0	A	140603415	C	A	140603415	3	1	81	1	0	0	0	0	1	0	0	0	11586	681	24	4	340	4	PCDHB14	5	140603415	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	9372	140603415	40311845	4750	8366											
PCDHB14	56122	broad.mit.edu	37	5	140604400	140604400	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140604400C>T	ENST00000239449.4	+	1	1323	c.1323C>T	c.(1321-1323)ctC>ctT	p.L441L	PCDHB14_ENST00000515856.2_Silent_p.L288L	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN		441	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCGTGCTGCTCTCTGACGTCA	0.582													43	77					0	0	1	0	0	T	140604400	C	T	140604400	2	4	81	1	0	0	0	0	0	0	0	1	11586	900	32	2		2	PCDHB14	5	140604400	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	985	140604400	40310860	4751	8367											
PCDHB14	56122	broad.mit.edu	37	5	140605187	140605187	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140605187T>C	ENST00000239449.4	+	1	2110	c.2110T>C	c.(2110-2112)Tcg>Ccg	p.S704P	PCDHB14_ENST00000515856.2_Missense_Mutation_p.S551P	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN		704					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTTCCTCTTCTCGGTGCTCCT	0.706													7	133					0	0	1	0	0	C	140605187	T	C	140605187	3	2	81	1	0	0	0	0	1	0	0	0	11586	1551	54	3	2112	3	PCDHB14	5	140605187	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	787	140605187	40310073	4752	8368											
PCDHB15	56121	broad.mit.edu	37	5	140627342	140627342	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140627342T>C	ENST00000231173.3	+	1	2196	c.2196T>C	c.(2194-2196)ttT>ttC	p.F732F		NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN		732					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGGGCCCCTTTCCAGGGCATC	0.622													12	162					0	0	1	0	0	C	140627342	T	C	140627342	2	2	81	1	0	0	0	0	0	0	0	1	11587	1780	62	3		3	PCDHB15	5	140627342	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	22155	140627342	40287918	4753	8369											
SLC25A2	83884	broad.mit.edu	37	5	140682820	140682820	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140682820C>A	ENST00000239451.4	-	1	792	c.613G>T	c.(613-615)Gat>Tat	p.D205Y		NM_031947.2	NP_114153.1	Q9BXI2	ORNT2_HUMAN	solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 2	205					mitochondrial ornithine transport|urea cycle	integral to membrane|mitochondrial inner membrane	L-ornithine transmembrane transporter activity			breast(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	19		all_lung(500;0.000249)|Lung NSC(810;0.0011)|Ovarian(839;0.00556)|Breast(839;0.0173)|all_hematologic(541;0.152)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.00204)	L-Ornithine(DB00129)	CCTAGTTCATCTTTTGATCTC	0.438													6	68					0.00116845	0.00124301	1	1	0	A	140682820	C	A	140682820	3	1	81	1	0	0	0	0	1	0	0	0	14537	913	32	4	296	4	SLC25A2	5	140682820	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	55478	140682820	40232440	4754	8370											
SLC25A2	83884	broad.mit.edu	37	5	140683316	140683316	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140683316C>T	ENST00000239451.4	-	1	296	c.117G>A	c.(115-117)acG>acA	p.T39T		NM_031947.2	NP_114153.1	Q9BXI2	ORNT2_HUMAN	solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 2	39					mitochondrial ornithine transport|urea cycle	integral to membrane|mitochondrial inner membrane	L-ornithine transmembrane transporter activity			breast(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	19		all_lung(500;0.000249)|Lung NSC(810;0.0011)|Ovarian(839;0.00556)|Breast(839;0.0173)|all_hematologic(541;0.152)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.00204)	L-Ornithine(DB00129)	GGTCAGGGAACGTCTGCATCT	0.612													4	58					0	0	1	0	0	T	140683316	C	T	140683316	2	4	81	1	0	0	0	0	0	0	0	1	14537	523	19	1		1	SLC25A2	5	140683316	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	496	140683316	40231944	4755	8371											
PCDHGA1	56114	broad.mit.edu	37	5	140710700	140710700	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140710700C>T	ENST00000517417.1	+	1	449	c.449C>T	c.(448-450)aCc>aTc	p.T150I	PCDHGA1_ENST00000378105.3_Missense_Mutation_p.T150I	NM_018912.2	NP_061735.1														breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACTCCAGGTACCAGAGTCTCA	0.418													71	111					0	0	1	0	0	T	140710700	C	T	140710700	3	4	81	1	0	0	0	0	1	0	0	0	11597	507	18	2	451	2	PCDHGA1	5	140710700	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	27384	140710700	40204560	4756	8372											
PCDHGA1	56114	broad.mit.edu	37	5	140711020	140711020	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140711020C>A	ENST00000517417.1	+	1	769	c.769C>A	c.(769-771)Ctg>Atg	p.L257M	PCDHGA1_ENST00000378105.3_Missense_Mutation_p.L257M	NM_018912.2	NP_061735.1														breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAACGTGCCGCTGGGTACTCA	0.493													3	49					0.004672	0.00489345	1	1	0	A	140711020	C	A	140711020	3	1	81	1	0	0	0	0	1	0	0	0	11597	796	28	4	771	4	PCDHGA1	5	140711020	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	320	140711020	40204240	4757	8373											
PCDHGA1	56114	broad.mit.edu	37	5	140711783	140711783	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140711783C>T	ENST00000517417.1	+	1	1532	c.1532C>T	c.(1531-1533)aCt>aTt	p.T511I	PCDHGA1_ENST00000378105.3_Missense_Mutation_p.T511I	NM_018912.2	NP_061735.1														breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AACTCCGACACTGGGGTCCTG	0.557													53	103					0	0	1	0	0	T	140711783	C	T	140711783	3	4	81	1	0	0	0	0	1	0	0	0	11597	565	20	2	1534	2	PCDHGA1	5	140711783	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	763	140711783	40203477	4758	8374											
PCDHGA1	56114	broad.mit.edu	37	5	140712311	140712311	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140712311C>T	ENST00000517417.1	+	1	2060	c.2060C>T	c.(2059-2061)tCg>tTg	p.S687L	PCDHGA1_ENST00000378105.3_Missense_Mutation_p.S687L	NM_018912.2	NP_061735.1														breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCAACGATTCGGACCTCACT	0.687													16	37					0	0	1	0	0	T	140712311	C	T	140712311	3	4	81	1	0	0	0	0	1	0	0	0	11597	893	31	1	2062	1	PCDHGA1	5	140712311	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	528	140712311	40202949	4759	8375											
PCDHGA2	56113	broad.mit.edu	37	5	140718798	140718798	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140718798C>T	ENST00000394576.2	+	1	260	c.260C>T	c.(259-261)gCg>gTg	p.A87V	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1														breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTGGTCACTGCGAACAGGATA	0.547													28	42					0	0	1	0	0	T	140718798	C	T	140718798	3	4	81	1	0	0	0	0	1	0	0	0	11601	768	27	1	262	1	PCDHGA2	5	140718798	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	6487	140718798	40196462	4760	8376											
PCDHGA2	56113	broad.mit.edu	37	5	140719530	140719530	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140719530C>T	ENST00000394576.2	+	1	992	c.992C>T	c.(991-993)gCg>gTg	p.A331V	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1												p.A331V(2)		breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTAACCAGAGCGAAGGTTATC	0.433													77	124					0	0	1	0	0	T	140719530	C	T	140719530	3	4	81	1	0	0	0	0	1	0	0	0	11601	768	27	1	994	1	PCDHGA2	5	140719530	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	732	140719530	40195730	4761	8377											
PCDHGA2	56113	broad.mit.edu	37	5	140720329	140720329	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140720329C>T	ENST00000394576.2	+	1	1791	c.1791C>T	c.(1789-1791)gaC>gaT	p.D597D	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1														breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGACAGAGACTCGGGCCAGA	0.692													46	65					0	0	1	0	0	T	140720329	C	T	140720329	2	4	81	1	0	0	0	0	0	0	0	1	11601	564	20	2		2	PCDHGA2	5	140720329	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	799	140720329	40194931	4762	8378											
PCDHGA3	56112	broad.mit.edu	37	5	140723715	140723715	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140723715C>A	ENST00000253812.6	+	1	115	c.115C>A	c.(115-117)Cta>Ata	p.L39I	PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1														breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTCTGAGGAGCTAGATAAAGG	0.622											OREG0016855	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	74	107					2.94884e-30	3.93265e-30	1	1	0	A	140723715	C	A	140723715	3	1	81	1	0	0	0	0	1	0	0	0	11602	796	28	4	117	4	PCDHGA3	5	140723715	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3386	140723715	40191545	4763	8379											
PCDHGA3	56112	broad.mit.edu	37	5	140725798	140725798	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140725798C>T	ENST00000253812.6	+	1	2198	c.2198C>T	c.(2197-2199)gCg>gTg	p.A733V	PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1														breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCGGCTTGGCGAGTACGCCC	0.672													20	42					0	0	1	0	0	T	140725798	C	T	140725798	3	4	81	1	0	0	0	0	1	0	0	0	11602	768	27	1	2200	1	PCDHGA3	5	140725798	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2083	140725798	40189462	4764	8380											
PCDHGA3	56112	broad.mit.edu	37	5	140725817	140725817	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140725817C>T	ENST00000253812.6	+	1	2217	c.2217C>T	c.(2215-2217)caC>caT	p.H739H	PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1														breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCGGCTCGCACTTTGTGGGCG	0.667													26	36					0	0	1	0	0	T	140725817	C	T	140725817	2	4	81	1	0	0	0	0	0	0	0	1	11602	564	20	2		2	PCDHGA3	5	140725817	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	19	140725817	40189443	4765	8381											
PCDHGB2	56103	broad.mit.edu	37	5	140740498	140740498	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140740498G>A	ENST00000522605.1	+	1	796	c.796G>A	c.(796-798)Gcc>Acc	p.A266T	PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018923.2|NM_032096.1	NP_061746.1|NP_115267.1														endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCAAGTGACAGCCACCGACCG	0.507													22	18					0	0	1	0	0	A	140740498	G	A	140740498	3	1	81	1	0	0	0	0	1	0	0	0	11610	971	34	2	798	2	PCDHGB2	5	140740498	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	14681	140740498	40174762	4766	8382											
PCDHGB2	56103	broad.mit.edu	37	5	140741305	140741305	+	Missense_Mutation	SNP	C	C	T	rs1860251		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140741305C>T	ENST00000522605.1	+	1	1603	c.1603C>T	c.(1603-1605)Cgc>Tgc	p.R535C	PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018923.2|NM_032096.1	NP_061746.1|NP_115267.1														endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACTGCAGGCCCGCGACCAGGG	0.677													3	43					0	0	1	0	0	T	140741305	C	T	140741305	3	4	81	1	0	0	0	0	1	0	0	0	11610	652	23	1	1605	1	PCDHGB2	5	140741305	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	807	140741305	40173955	4767	8383											
PCDHGA5	56110	broad.mit.edu	37	5	140745793	140745793	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140745793G>A	ENST00000518069.1	+	1	1896	c.1896G>A	c.(1894-1896)ctG>ctA	p.L632L	PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1														endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCGAGCCCTGCTGGACAGAG	0.677													7	95					0	0	1	0	0	A	140745793	G	A	140745793	2	1	81	1	0	0	0	0	0	0	0	1	11604	1306	46	2		2	PCDHGA5	5	140745793	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	4488	140745793	40169467	4768	8384											
PCDHGA6	56109	broad.mit.edu	37	5	140753844	140753844	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140753844G>A	ENST00000517434.1	+	1	194	c.194G>A	c.(193-195)cGc>cAc	p.R65H	PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1														breast(1)|large_intestine(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACGGAGTCCGCATCGTCTCC	0.592													4	58					0	0	1	0	0	A	140753844	G	A	140753844	3	1	81	1	0	0	0	0	1	0	0	0	11605	1087	38	1	196	1	PCDHGA6	5	140753844	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	8051	140753844	40161416	4769	8385											
PCDHGA6	56109	broad.mit.edu	37	5	140754977	140754977	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140754977G>A	ENST00000517434.1	+	1	1327	c.1327G>A	c.(1327-1329)Gca>Aca	p.A443T	PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1														breast(1)|large_intestine(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTAAATGTGGCAGACACCAA	0.498													9	105					0	0	1	0	0	A	140754977	G	A	140754977	3	1	81	1	0	0	0	0	1	0	0	0	11605	1203	42	2	1329	2	PCDHGA6	5	140754977	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1133	140754977	40160283	4770	8386											
PCDHGA7	56108	broad.mit.edu	37	5	140764376	140764376	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140764376C>T	ENST00000518325.1	+	1	1910	c.1910C>T	c.(1909-1911)gCc>gTc	p.A637V	PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018920.2	NP_061743.1														NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACAGAGATGCCCTCAAGCAG	0.647													6	22					0	0	1	0	0	T	140764376	C	T	140764376	3	4	81	1	0	0	0	0	1	0	0	0	11606	739	26	2	1912	2	PCDHGA7	5	140764376	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	9399	140764376	40150884	4771	8387											
PCDHGB4	8641	broad.mit.edu	37	5	140769033	140769033	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140769033C>A	ENST00000519479.1	+	1	1582	c.1582C>A	c.(1582-1584)Ctc>Atc	p.L528I	PCDHGA6_ENST00000517434.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_003736.2|NM_018925.2|NM_032098.1	NP_003727.1|NP_061748.1|NP_115269.1														endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2)	37			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCCTTCGAACTCACACTGCA	0.677													17	31					5.3912e-06	6.11892e-06	1	1	0	A	140769033	C	A	140769033	3	1	81	1	0	0	0	0	1	0	0	0	11612	565	20	4	1584	4	PCDHGB4	5	140769033	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	4657	140769033	40146227	4772	8388											
PCDHGA8	9708	broad.mit.edu	37	5	140773751	140773751	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140773751C>A	ENST00000398604.2	+	1	1371	c.1371C>A	c.(1369-1371)taC>taA	p.Y457*	PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA6_ENST00000517434.1_Intron	NM_032088.1	NP_114477.1														endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGCCTCCTACTCAGCGTATA	0.522													3	22					0.115264	0.117126	1	1	0	A	140773751	C	A	140773751	4	1	81	1	0	0	0	0	0	1	0	0	11607	576	20	4	1373	4	PCDHGA8	5	140773751	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	4718	140773751	40141509	4773	8389											
PCDHGA8	9708	broad.mit.edu	37	5	140773877	140773877	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140773877G>A	ENST00000398604.2	+	1	1497	c.1497G>A	c.(1495-1497)gcG>gcA	p.A499A	PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA6_ENST00000517434.1_Intron	NM_032088.1	NP_114477.1														endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCAGGGGGCGCCCCTGTCCT	0.562													19	15					0	0	1	0	0	A	140773877	G	A	140773877	2	1	81	1	0	0	0	0	0	0	0	1	11607	1074	38	1		1	PCDHGA8	5	140773877	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	126	140773877	40141383	4774	8390											
PCDHGA8	9708	broad.mit.edu	37	5	140774315	140774315	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140774315C>A	ENST00000398604.2	+	1	1935	c.1935C>A	c.(1933-1935)gcC>gcA	p.A645A	PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA6_ENST00000517434.1_Intron	NM_032088.1	NP_114477.1														endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCGTGGTGGCCGTCCAGGACC	0.677													6	31					2.7689e-08	3.2887e-08	1	1	0	A	140774315	C	A	140774315	2	1	81	1	0	0	0	0	0	0	0	1	11607	639	23	5		5	PCDHGA8	5	140774315	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	438	140774315	40140945	4775	8391											
PCDHGA9	56107	broad.mit.edu	37	5	140783914	140783914	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140783914C>T	ENST00000573521.1	+	1	1395	c.1395C>T	c.(1393-1395)aaC>aaT	p.N465N	PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA6_ENST00000517434.1_Intron	NM_018921.2|NM_032089.1	NP_061744.1|NP_114478.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGAAAACAACGCCAGAGGTA	0.463													28	34					0	0	1	0	0	T	140783914	C	T	140783914	2	4	81	1	0	0	0	0	0	0	0	1	11608	535	19	1		1	PCDHGA9	5	140783914	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	9599	140783914	40131346	4776	8392											
PCDHGA9	56107	broad.mit.edu	37	5	140784723	140784723	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140784723T>C	ENST00000573521.1	+	1	2204	c.2204T>C	c.(2203-2205)gTg>gCg	p.V735A	PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA6_ENST00000517434.1_Intron	NM_018921.2|NM_032089.1	NP_061744.1|NP_114478.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTGGCTGGTGTGCCCACCTCA	0.572													21	22					0	0	1	0	0	C	140784723	T	C	140784723	3	2	81	1	0	0	0	0	1	0	0	0	11608	1696	59	3	2206	3	PCDHGA9	5	140784723	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	809	140784723	40130537	4777	8393											
PCDHGB6	56100	broad.mit.edu	37	5	140787945	140787945	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140787945T>G	ENST00000520790.1	+	1	176	c.176T>G	c.(175-177)cTg>cGg	p.L59R	PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA6_ENST00000517434.1_Intron	NM_018926.2|NM_032100.1	NP_061749.1|NP_115271.1														breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)	48			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCAGTGTCCTGGATGTGTCG	0.607													7	51					0	0	1	0	0	G	140787945	T	G	140787945	3	3	81	1	0	0	0	0	1	0	0	0	11614	1580	55	5	178	5	PCDHGB6	5	140787945	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	3222	140787945	40127315	4778	8394											
PCDHGB6	56100	broad.mit.edu	37	5	140788094	140788094	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140788094G>A	ENST00000520790.1	+	1	325	c.325G>A	c.(325-327)Gtg>Atg	p.V109M	PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA6_ENST00000517434.1_Intron	NM_018926.2|NM_032100.1	NP_061749.1|NP_115271.1														breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)	48			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATTGGAAGCTGTGGTGGAAAA	0.403													41	67					0	0	1	0	0	A	140788094	G	A	140788094	3	1	81	1	0	0	0	0	1	0	0	0	11614	1377	48	2	327	2	PCDHGB6	5	140788094	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	149	140788094	40127166	4779	8395											
PCDHGB6	56100	broad.mit.edu	37	5	140788107	140788107	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140788107C>A	ENST00000520790.1	+	1	338	c.338C>A	c.(337-339)cCt>cAt	p.P113H	PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA6_ENST00000517434.1_Intron	NM_018926.2|NM_032100.1	NP_061749.1|NP_115271.1														breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)	48			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGGAAAATCCTTTAAATATT	0.383													12	89					0.0202918	0.0209342	1	1	0	A	140788107	C	A	140788107	3	1	81	1	0	0	0	0	1	0	0	0	11614	681	24	4	340	4	PCDHGB6	5	140788107	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	13	140788107	40127153	4780	8396											
PCDHGB6	56100	broad.mit.edu	37	5	140788768	140788768	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140788768A>G	ENST00000520790.1	+	1	999	c.999A>G	c.(997-999)gtA>gtG	p.V333V	PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA6_ENST00000517434.1_Intron	NM_018926.2|NM_032100.1	NP_061749.1|NP_115271.1														breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)	48			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGTGTAAAGTAATCATAGAAA	0.403													33	46					0	0	1	0	0	G	140788768	A	G	140788768	2	3	81	1	0	0	0	0	0	0	0	1	11614	349	13	3		3	PCDHGB6	5	140788768	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	661	140788768	40126492	4781	8397											
PCDHGA10	56106	broad.mit.edu	37	5	140793483	140793483	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140793483C>A	ENST00000398610.2	+	1	741	c.741C>A	c.(739-741)acC>acA	p.T247T	PCDHGB3_ENST00000576222.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA6_ENST00000517434.1_Intron	NM_018913.2|NM_032090.1	NP_061736.1|NP_114479.1														breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGTCTTCACCTTGCCAGAAT	0.577													5	26					0.184627	0.18622	1	1	0	A	140793483	C	A	140793483	2	1	81	1	0	0	0	0	0	0	0	1	11598	668	24	4		4	PCDHGA10	5	140793483	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	4715	140793483	40121777	4782	8398											
PCDHGA10	56106	broad.mit.edu	37	5	140794055	140794055	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140794055C>T	ENST00000398610.2	+	1	1313	c.1313C>T	c.(1312-1314)aCg>aTg	p.T438M	PCDHGB3_ENST00000576222.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA6_ENST00000517434.1_Intron	NM_018913.2|NM_032090.1	NP_061736.1|NP_114479.1														breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTCTATCAACGGAAGCTCAC	0.463													70	111					0	0	1	0	0	T	140794055	C	T	140794055	3	4	81	1	0	0	0	0	1	0	0	0	11598	536	19	1	1315	1	PCDHGA10	5	140794055	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	572	140794055	40121205	4783	8399											
PCDHGB7	56099	broad.mit.edu	37	5	140797471	140797471	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140797471G>T	ENST00000398594.2	+	1	45	c.45G>T	c.(43-45)caG>caT	p.Q15H	PCDHGB3_ENST00000576222.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA6_ENST00000517434.1_Intron	NM_018927.3	NP_061750.1														central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(13)|lung(15)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(3)	56			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			gcccgcggcAGGTACTATTTC	0.642											OREG0016863	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	6					0.004672	0.00489345	1	1	0	T	140797471	G	T	140797471	3	4	81	1	0	0	0	0	1	0	0	0	11615	991	35	4	47	4	PCDHGB7	5	140797471	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	3416	140797471	40117789	4784	8400											
PCDHGB7	56099	broad.mit.edu	37	5	140798177	140798177	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140798177C>A	ENST00000398594.2	+	1	751	c.751C>A	c.(751-753)Ctt>Att	p.L251I	PCDHGB3_ENST00000576222.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA6_ENST00000517434.1_Intron	NM_018927.3	NP_061750.1														central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(13)|lung(15)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(3)	56			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGGGTTAGCCTTCGGGAAGA	0.547													28	30					1.80694e-10	2.21318e-10	1	1	0	A	140798177	C	A	140798177	3	1	81	1	0	0	0	0	1	0	0	0	11615	681	24	4	753	4	PCDHGB7	5	140798177	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	706	140798177	40117083	4785	8401											
PCDHGA12	26025	broad.mit.edu	37	5	140811102	140811102	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140811102C>T	ENST00000252085.3	+	1	918	c.776C>T	c.(775-777)aCg>aTg	p.T259M	PCDHGB3_ENST00000576222.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA6_ENST00000517434.1_Intron	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1														breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCTTGGGCACGCAGCTGCTT	0.597													17	33					0	0	1	0	0	T	140811102	C	T	140811102	3	4	81	1	0	0	0	0	1	0	0	0	11600	536	19	1	778	1	PCDHGA12	5	140811102	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	12925	140811102	40104158	4786	8402											
PCDHGA12	26025	broad.mit.edu	37	5	140811664	140811664	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140811664C>T	ENST00000252085.3	+	1	1480	c.1338C>T	c.(1336-1338)aaC>aaT	p.N446N	PCDHGB3_ENST00000576222.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA6_ENST00000517434.1_Intron	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1														breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGACACCAACGACAACCCGC	0.582													11	29					0	0	1	0	0	T	140811664	C	T	140811664	2	4	81	1	0	0	0	0	0	0	0	1	11600	535	19	1		1	PCDHGA12	5	140811664	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	562	140811664	40103596	4787	8403											
PCDHGA12	26025	broad.mit.edu	37	5	140811962	140811962	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140811962G>A	ENST00000252085.3	+	1	1778	c.1636G>A	c.(1636-1638)Gtg>Atg	p.V546M	PCDHGB3_ENST00000576222.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA6_ENST00000517434.1_Intron	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1														breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGCAGCAACGTGTCGTTGAG	0.627													9	143					0	0	1	0	0	A	140811962	G	A	140811962	3	1	81	1	0	0	0	0	1	0	0	0	11600	1145	40	1	1638	1	PCDHGA12	5	140811962	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	298	140811962	40103298	4788	8404											
PCDHGC3	5098	broad.mit.edu	37	5	140856640	140856640	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140856640G>T	ENST00000308177.3	+	1	1061	c.957G>T	c.(955-957)gaG>gaT	p.E319D	PCDHGB3_ENST00000576222.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA6_ENST00000517434.1_Intron	NM_002588.2|NM_032402.1	NP_002579.2|NP_115778.1														breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(2)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AACTCCATGAGATTTACATCC	0.547													18	30					2.94398e-08	3.49414e-08	1	1	0	T	140856640	G	T	140856640	3	4	81	1	0	0	0	0	1	0	0	0	11616	933	33	4	959	4	PCDHGC3	5	140856640	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	44678	140856640	40058620	4789	8405											
PCDHGC3	5098	broad.mit.edu	37	5	140857116	140857116	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140857116A>G	ENST00000308177.3	+	1	1537	c.1433A>G	c.(1432-1434)aAc>aGc	p.N478S	PCDHGB3_ENST00000576222.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA6_ENST00000517434.1_Intron	NM_002588.2|NM_032402.1	NP_002579.2|NP_115778.1														breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(2)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCAATACTAAACCTAAGTGTC	0.502													14	124					0	0	1	0	0	G	140857116	A	G	140857116	3	3	81	1	0	0	0	0	1	0	0	0	11616	43	2	3	1435	3	PCDHGC3	5	140857116	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	476	140857116	40058144	4790	8406											
PCDHGC4	56098	broad.mit.edu	37	5	140864800	140864800	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140864800C>T	ENST00000306593.1	+	1	60	c.60C>T	c.(58-60)ctC>ctT	p.L20L	PCDHGB3_ENST00000576222.1_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA6_ENST00000517434.1_Intron	NM_018928.2|NM_032406.1	NP_061751.1|NP_115782.1														NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(13)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	42			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTTTGTTCCTCTTTTACCACC	0.552													18	34					0	0	1	0	0	T	140864800	C	T	140864800	2	4	81	1	0	0	0	0	0	0	0	1	11617	900	32	2		2	PCDHGC4	5	140864800	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	7684	140864800	40050460	4791	8407											
DIAPH1	1729	broad.mit.edu	37	5	140905645	140905645	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140905645C>A	ENST00000253811.6	-	26	3677	c.3537G>T	c.(3535-3537)gaG>gaT	p.E1179D	DIAPH1_ENST00000389057.5_Missense_Mutation_p.E1169D|DIAPH1_ENST00000520569.1_Missense_Mutation_p.E1121D|DIAPH1_ENST00000398557.4_Missense_Mutation_p.E1178D|DIAPH1_ENST00000389054.3_Missense_Mutation_p.E1175D|DIAPH1_ENST00000398562.2_Missense_Mutation_p.E1154D|DIAPH1_ENST00000518047.1_Missense_Mutation_p.E1166D|DIAPH1_ENST00000398566.3_Missense_Mutation_p.E1170D			O60610	DIAP1_HUMAN	diaphanous-related formin 1	1178					regulation of microtubule-based process|sensory perception of sound	cytoplasm|cytoskeleton|ruffle membrane	actin binding|receptor binding|Rho GTPase binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2)	23			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTGCTGCTTCTCTAGCCGCT	0.522													6	118					0.27861	0.279815	1	1	0	A	140905645	C	A	140905645	3	1	81	1	0	0	0	0	1	0	0	0	4546	912	32	4	296	4	DIAPH1	5	140905645	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	40845	140905645	40009615	4792	8408											
DIAPH1	1729	broad.mit.edu	37	5	140957091	140957091	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140957091G>T	ENST00000253811.6	-	12	1371	c.1231C>A	c.(1231-1233)Ctt>Att	p.L411I	DIAPH1_ENST00000389057.5_Missense_Mutation_p.L402I|DIAPH1_ENST00000520569.1_Missense_Mutation_p.L357I|DIAPH1_ENST00000398557.4_Missense_Mutation_p.L411I|DIAPH1_ENST00000389054.3_Missense_Mutation_p.L411I|DIAPH1_ENST00000398562.2_Missense_Mutation_p.L402I|DIAPH1_ENST00000518047.1_Missense_Mutation_p.L402I|DIAPH1_ENST00000398566.3_Missense_Mutation_p.L402I			O60610	DIAP1_HUMAN	diaphanous-related formin 1	411	GBD/FH3.				regulation of microtubule-based process|sensory perception of sound	cytoplasm|cytoskeleton|ruffle membrane	actin binding|receptor binding|Rho GTPase binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2)	23			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGATGGAAAGGAAGTGTGGC	0.418													41	71					9.73076e-26	1.28862e-25	1	1	0	T	140957091	G	T	140957091	3	4	81	1	0	0	0	0	1	0	0	0	4546	1000	35	4	2655	4	DIAPH1	5	140957091	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	51446	140957091	39958169	4793	8409											
DIAPH1	1729	broad.mit.edu	37	5	140967806	140967806	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140967806C>T	ENST00000253811.6	-	2	269	c.129G>A	c.(127-129)cgG>cgA	p.R43R	DIAPH1_ENST00000389057.5_Intron|DIAPH1_ENST00000398557.4_Silent_p.R43R|DIAPH1_ENST00000389054.3_Silent_p.R43R|DIAPH1_ENST00000398562.2_Intron|DIAPH1_ENST00000518047.1_Intron|DIAPH1_ENST00000398566.3_Intron			O60610	DIAP1_HUMAN	diaphanous-related formin 1	43					regulation of microtubule-based process|sensory perception of sound	cytoplasm|cytoskeleton|ruffle membrane	actin binding|receptor binding|Rho GTPase binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2)	23			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGCCATGAGCCGCTTCAGAG	0.418													3	21					0	0	1	0	0	T	140967806	C	T	140967806	2	4	81	1	0	0	0	0	0	0	0	1	4546	726	26	2		2	DIAPH1	5	140967806	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	10715	140967806	39947454	4794	8410											
HDAC3	8841	broad.mit.edu	37	5	141007475	141007475	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:141007475C>A	ENST00000305264.3	-	10	894	c.815G>T	c.(814-816)aGc>aTc	p.S272I		NM_003883.3	NP_003874.2	O15379	HDAC3_HUMAN	histone deacetylase 3	272	Histone deacetylase.				anti-apoptosis|cellular lipid metabolic process|negative regulation of cell cycle|negative regulation of JNK cascade|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|spindle assembly|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|spindle microtubule|transcriptional repressor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|transcription corepressor activity|transcription factor binding			endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Vorinostat(DB02546)	CCCTCGGATGCTGAGGTTAAA	0.527													6	60					0.000157383	0.000171784	1	1	0	A	141007475	C	A	141007475	3	1	81	1	0	0	0	0	1	0	0	0	7049	797	28	4	495	4	HDAC3	5	141007475	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	39669	141007475	39907785	4795	8411											
ARAP3	64411	broad.mit.edu	37	5	141039454	141039454	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:141039454C>T	ENST00000239440.4	-	22	3224	c.3159G>A	c.(3157-3159)cgG>cgA	p.R1053R	ARAP3_ENST00000513878.1_Silent_p.R715R|ARAP3_ENST00000512390.1_5'UTR|ARAP3_ENST00000508305.1_Silent_p.R884R	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	1053	Rho-GAP.				cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding	p.R1053R(1)		NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						GAGCCAAGTTCCGCGTGCACA	0.557													6	8					0	0	1	0	0	T	141039454	C	T	141039454	2	4	81	1	0	0	0	0	0	0	0	1	837	842	30	2		2	ARAP3	5	141039454	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	31979	141039454	39875806	4796	8412											
ARAP3	64411	broad.mit.edu	37	5	141041299	141041299	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:141041299G>A	ENST00000239440.4	-	21	3136	c.3071C>T	c.(3070-3072)cCg>cTg	p.P1024L	ARAP3_ENST00000513878.1_Missense_Mutation_p.P686L|ARAP3_ENST00000512390.1_5'UTR|ARAP3_ENST00000508305.1_Missense_Mutation_p.P855L	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	1024	Rho-GAP.				cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						GTTGACCCGCGGCAGGCAGCC	0.572													6	90					0	0	1	0	0	A	141041299	G	A	141041299	3	1	81	1	0	0	0	0	1	0	0	0	837	1116	39	1	1615	1	ARAP3	5	141041299	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1845	141041299	39873961	4797	8413											
ARAP3	64411	broad.mit.edu	37	5	141050955	141050955	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:141050955C>T	ENST00000239440.4	-	13	1932	c.1867G>A	c.(1867-1869)Gct>Act	p.A623T	ARAP3_ENST00000513878.1_Missense_Mutation_p.A285T|ARAP3_ENST00000508305.1_Missense_Mutation_p.A545T	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	623					cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						CTTGCCACAGCTGCACACAGT	0.587													17	27					0	0	1	0	0	T	141050955	C	T	141050955	3	4	81	1	0	0	0	0	1	0	0	0	837	797	28	2	2851	2	ARAP3	5	141050955	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	9656	141050955	39864305	4798	8414											
ARAP3	64411	broad.mit.edu	37	5	141051471	141051471	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:141051471C>A	ENST00000239440.4	-	11	1727	c.1662G>T	c.(1660-1662)gaG>gaT	p.E554D	ARAP3_ENST00000513878.1_Missense_Mutation_p.E216D|ARAP3_ENST00000508305.1_Missense_Mutation_p.E476D	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	554	Arf-GAP.				cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						CCTGTACTATCTCATTACTCC	0.602													7	65					0.27861	0.279815	1	1	0	A	141051471	C	A	141051471	3	1	81	1	0	0	0	0	1	0	0	0	837	912	32	4	3064	4	ARAP3	5	141051471	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	516	141051471	39863789	4799	8415											
PCDH1	5097	broad.mit.edu	37	5	141244899	141244899	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:141244899C>T	ENST00000287008.3	-	3	1144	c.997G>A	c.(997-999)Gac>Aac	p.D333N	PCDH1_ENST00000503492.1_Intron|PCDH1_ENST00000394536.3_Missense_Mutation_p.D333N|PCDH1_ENST00000511044.1_5'UTR|PCDH1_ENST00000456271.1_Missense_Mutation_p.D321N|PCDH1_ENST00000536585.1_Missense_Mutation_p.D311N	NM_032420.2	NP_115796.2	Q08174	PCDH1_HUMAN	protocadherin 1	333	Cadherin 3.				cell-cell signaling|homophilic cell adhesion|nervous system development	cell-cell junction|integral to plasma membrane	calcium ion binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1)	51		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)		GTGTTCCTGTCCAGTCGAAGA	0.557													21	48					0	0	1	0	0	T	141244899	C	T	141244899	3	4	81	1	0	0	0	0	1	0	0	0	11553	855	30	2	2812	2	PCDH1	5	141244899	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	193428	141244899	39670361	4800	8416											
PCDH12	51294	broad.mit.edu	37	5	141336296	141336296	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:141336296G>T	ENST00000231484.3	-	1	2331	c.1121C>A	c.(1120-1122)gCt>gAt	p.A374D		NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	protocadherin 12	374	Cadherin 4.				neuron recognition	integral to plasma membrane	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CATGACAAGAGCAATAAAACT	0.507													33	73					3.11337e-16	3.99083e-16	1	1	0	T	141336296	G	T	141336296	3	4	81	1	0	0	0	0	1	0	0	0	11557	971	34	4	2449	4	PCDH12	5	141336296	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	91397	141336296	39578964	4801	8417											
RNF14	9604	broad.mit.edu	37	5	141357958	141357958	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:141357958G>T	ENST00000394520.2	+	5	706	c.397G>T	c.(397-399)Gag>Tag	p.E133*	RNF14_ENST00000394519.1_Nonsense_Mutation_p.E133*|RNF14_ENST00000356143.1_Nonsense_Mutation_p.E133*|RNF14_ENST00000347642.3_Nonsense_Mutation_p.E133*|RNF14_ENST00000502341.1_3'UTR|RNF14_ENST00000540015.1_Intron|AC005740.5_ENST00000520882.1_RNA|RNF14_ENST00000394514.2_Nonsense_Mutation_p.E7*|RNF14_ENST00000394515.3_Intron	NM_001201365.1|NM_004290.4	NP_001188294.1|NP_004281.1	Q9UBS8	RNF14_HUMAN	ring finger protein 14	133	RWD.				androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|protein ubiquitination|regulation of androgen receptor signaling pathway|regulation of transcription from RNA polymerase II promoter|response to estradiol stimulus|transcription, DNA-dependent	cytoplasm|nucleus	androgen receptor binding|small conjugating protein ligase activity|transcription coactivator activity|zinc ion binding			cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15		all_hematologic(541;0.0536)|Ovarian(839;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.0407)		TCTTAAGGAAGAGACCCTAGC	0.453													5	59					0.000602214	0.000646338	1	1	0	T	141357958	G	T	141357958	4	4	81	1	0	0	0	0	0	1	0	0	13495	943	33	4	407	4	RNF14	5	141357958	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	21662	141357958	39557302	4802	8418											
GNPDA1	10007	broad.mit.edu	37	5	141382753	141382753	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:141382753C>T	ENST00000508177.1	-	5	1427	c.669G>A	c.(667-669)atG>atA	p.M223I	GNPDA1_ENST00000513454.1_Missense_Mutation_p.M223I|GNPDA1_ENST00000503794.1_Missense_Mutation_p.M223I|GNPDA1_ENST00000542860.1_Missense_Mutation_p.M146I|GNPDA1_ENST00000458112.2_Missense_Mutation_p.M189I|GNPDA1_ENST00000311337.6_Missense_Mutation_p.M223I|GNPDA1_ENST00000500692.2_Missense_Mutation_p.M223I			P46926	GNPI1_HUMAN	glucosamine-6-phosphate deaminase 1	223					generation of precursor metabolites and energy|glucosamine catabolic process|N-acetylglucosamine metabolic process|single fertilization	cytoplasm	glucosamine-6-phosphate deaminase activity|hydrolase activity			central_nervous_system(1)|lung(1)|skin(3)|stomach(1)	6		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACACGGTCCACATGTGGTTCA	0.512													4	37					0	0	1	0	0	T	141382753	C	T	141382753	3	4	81	1	0	0	0	0	1	0	0	0	6584	478	17	2	208	2	GNPDA1	5	141382753	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	24795	141382753	39532507	4803	8419											
SPRY4	81848	broad.mit.edu	37	5	141694443	141694443	+	Silent	SNP	C	C	T	rs143709567	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:141694443C>T	ENST00000344120.4	-	3	486	c.300G>A	c.(298-300)acG>acA	p.T100T	SPRY4_ENST00000434127.2_Silent_p.T77T	NM_030964.3	NP_112226.2	Q9C004	SPY4_HUMAN	sprouty homolog 4 (Drosophila)	77	Poly-Ser.				multicellular organismal development	cytoplasm|ruffle membrane	protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(7)|ovary(1)	18		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCGGGCGGGCGTCGGGGCCA	0.662									Testicular Cancer, Familial Clustering of				23	32					0	0	1	0	0	T	141694443	C	T	141694443	2	4	81	1	0	0	0	0	0	0	0	1	15164	755	27	1		1	SPRY4	5	141694443	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	311690	141694443	39220817	4804	8420											
SPRY4	81848	broad.mit.edu	37	5	141694663	141694663	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:141694663G>A	ENST00000344120.4	-	3	266	c.80C>T	c.(79-81)cCg>cTg	p.P27L	SPRY4_ENST00000434127.2_Missense_Mutation_p.P4L	NM_030964.3	NP_112226.2	Q9C004	SPY4_HUMAN	sprouty homolog 4 (Drosophila)	4					multicellular organismal development	cytoplasm|ruffle membrane	protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(7)|ovary(1)	18		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGTGGGATCGGGGGCTCCAT	0.627									Testicular Cancer, Familial Clustering of				13	20					0	0	1	0	0	A	141694663	G	A	141694663	3	1	81	1	0	0	0	0	1	0	0	0	15164	1116	39	1	892	1	SPRY4	5	141694663	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	220	141694663	39220597	4805	8421											
ARHGAP26	23092	broad.mit.edu	37	5	142281518	142281518	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:142281518G>T	ENST00000378004.3	+	7	971	c.616G>T	c.(616-618)Gga>Tga	p.G206*	ARHGAP26_ENST00000274498.4_Nonsense_Mutation_p.G206*	NM_001135608.1	NP_001129080.1	Q9UNA1	RHG26_HUMAN	Rho GTPase activating protein 26	206					actin cytoskeleton organization|filopodium assembly|nervous system development|small GTPase mediated signal transduction	cytoskeleton|cytosol|focal adhesion	cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(7)|ovary(1)	25		all_hematologic(541;0.0416)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTTCCTGCAAGGACTCTTCAC	0.458													7	59					8.12818e-05	8.94031e-05	1	1	0	T	142281518	G	T	142281518	4	4	81	1	0	0	0	0	0	1	0	0	872	1001	35	4	642	4	ARHGAP26	5	142281518	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	586855	142281518	38633742	4806	8422											
ARHGAP26	23092	broad.mit.edu	37	5	142500708	142500708	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:142500708A>G	ENST00000378004.3	+	18	2049	c.1694A>G	c.(1693-1695)gAa>gGa	p.E565G	ARHGAP26_ENST00000274498.4_Missense_Mutation_p.E565G	NM_001135608.1	NP_001129080.1	Q9UNA1	RHG26_HUMAN	Rho GTPase activating protein 26	565	Rho-GAP.				actin cytoskeleton organization|filopodium assembly|nervous system development|small GTPase mediated signal transduction	cytoskeleton|cytosol|focal adhesion	cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(7)|ovary(1)	25		all_hematologic(541;0.0416)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GAAAACCACGAAAAGGTAATA	0.423													7	34					0	0	1	0	0	G	142500708	A	G	142500708	3	3	81	1	0	0	0	0	1	0	0	0	872	246	9	3	1764	3	ARHGAP26	5	142500708	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	219190	142500708	38414552	4807	8423											
NR3C1	2908	broad.mit.edu	37	5	142662143	142662143	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:142662143G>T	ENST00000343796.2	-	8	3164	c.2171C>A	c.(2170-2172)tCt>tAt	p.S724Y	NR3C1_ENST00000503201.1_Missense_Mutation_p.S724Y|NR3C1_ENST00000415690.2_Missense_Mutation_p.S724Y|NR3C1_ENST00000504572.1_Missense_Mutation_p.S725Y|NR3C1_ENST00000416954.2_Missense_Mutation_p.S327Y|NR3C1_ENST00000424646.2_Missense_Mutation_p.S698Y|NR3C1_ENST00000394464.2_Missense_Mutation_p.S724Y|NR3C1_ENST00000394466.2_Missense_Mutation_p.S725Y|NR3C1_ENST00000231509.3_Missense_Mutation_p.S725Y	NM_001018074.1|NM_001018075.1|NM_001018077.1	NP_001018084.1|NP_001018085.1|NP_001018087.1	P04150	GCR_HUMAN	nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)	724	Steroid-binding.				chromatin modification|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus|transcription from RNA polymerase II promoter	mitochondrial matrix|nucleoplasm	glucocorticoid receptor activity|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	35		Acute lymphoblastic leukemia(2;3.2e-05)|all_hematologic(2;0.000361)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)		Amcinonide(DB00288)|Betamethasone(DB00443)|Budesonide(DB01222)|Dexamethasone(DB01234)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluticasone Propionate(DB00588)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Loteprednol Etabonate(DB00873)|Methylprednisolone(DB00959)|Mifepristone(DB00834)|Mometasone(DB00764)|Prednisone(DB00635)	TTCATGCATAGAATCCAAGAG	0.393													23	48					3.28513e-13	4.13666e-13	1	1	0	T	142662143	G	T	142662143	3	4	81	1	0	0	0	0	1	0	0	0	10678	942	33	4	222	4	NR3C1	5	142662143	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	161435	142662143	38253117	4808	8424											
NR3C1	2908	broad.mit.edu	37	5	142780045	142780045	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:142780045C>T	ENST00000343796.2	-	2	1353	c.360G>A	c.(358-360)aaG>aaA	p.K120K	NR3C1_ENST00000503201.1_Silent_p.K120K|NR3C1_ENST00000415690.2_Silent_p.K120K|NR3C1_ENST00000504572.1_Silent_p.K120K|NR3C1_ENST00000416954.2_Intron|NR3C1_ENST00000424646.2_Silent_p.K120K|NR3C1_ENST00000394464.2_Silent_p.K120K|NR3C1_ENST00000394466.2_Silent_p.K120K|NR3C1_ENST00000231509.3_Silent_p.K120K	NM_001018074.1|NM_001018075.1|NM_001018077.1	NP_001018084.1|NP_001018085.1|NP_001018087.1	P04150	GCR_HUMAN	nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)	120	Modulating.				chromatin modification|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus|transcription from RNA polymerase II promoter	mitochondrial matrix|nucleoplasm	glucocorticoid receptor activity|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	35		Acute lymphoblastic leukemia(2;3.2e-05)|all_hematologic(2;0.000361)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)		Amcinonide(DB00288)|Betamethasone(DB00443)|Budesonide(DB01222)|Dexamethasone(DB01234)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluticasone Propionate(DB00588)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Loteprednol Etabonate(DB00873)|Methylprednisolone(DB00959)|Mifepristone(DB00834)|Mometasone(DB00764)|Prednisone(DB00635)	CTTCCAAAAGCTTTAAGTCTG	0.498													54	83					0	0	1	0	0	T	142780045	C	T	142780045	2	4	81	1	0	0	0	0	0	0	0	1	10678	796	28	2		2	NR3C1	5	142780045	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	117902	142780045	38135215	4809	8425											
KCTD16	57528	broad.mit.edu	37	5	143853619	143853619	+	Missense_Mutation	SNP	G	G	A	rs147890155		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:143853619G>A	ENST00000507359.3	+	3	2320	c.1229G>A	c.(1228-1230)cGg>cAg	p.R410Q	KCTD16_ENST00000512467.1_Missense_Mutation_p.R410Q	NM_020768.3	NP_065819.1	Q68DU8	KCD16_HUMAN	potassium channel tetramerization domain containing 16							cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity			large_intestine(5)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	21		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)			ATTCCAGATCGGTTTCCTGAG	0.383													38	78					0	0	1	0	0	A	143853619	G	A	143853619	3	1	81	1	0	0	0	0	1	0	0	0	8147	1116	39	1	1235	1	KCTD16	5	143853619	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1073574	143853619	37061641	4810	8426											
PRELID2	153768	broad.mit.edu	37	5	145176105	145176105	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:145176105T>A	ENST00000334744.4	-	6	462	c.410A>T	c.(409-411)gAg>gTg	p.E137V	PRELID2_ENST00000511435.1_Missense_Mutation_p.E125V|PRELID2_ENST00000394450.2_Missense_Mutation_p.E96V|PRELID2_ENST00000358004.2_Missense_Mutation_p.E125V|PRELID2_ENST00000505416.1_Missense_Mutation_p.E125V	NM_182960.2	NP_892005.1	Q8N945	PRLD2_HUMAN	PRELI domain containing 2	137	PRELI/MSF1.									endometrium(2)|large_intestine(1)|lung(2)|prostate(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTGAATGAACTCTGTCCTGCA	0.383													11	76					0	0	1	0	0	A	145176105	T	A	145176105	3	1	81	1	0	0	0	0	1	0	0	0	12524	1551	54	5	167	5	PRELID2	5	145176105	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	1322486	145176105	35739155	4811	8427											
SH3RF2	153769	broad.mit.edu	37	5	145317698	145317698	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:145317698C>T	ENST00000511217.1	+	1	259	c.207C>T	c.(205-207)ctC>ctT	p.L69L	SH3RF2_ENST00000359120.4_Silent_p.L69L			Q8TEC5	SH3R2_HUMAN	SH3 domain containing ring finger 2	69							ligase activity|protein phosphatase 1 binding|zinc ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ACCTGCTGCTCGTGCGCCTTC	0.622													31	31					0	0	1	0	0	T	145317698	C	T	145317698	2	4	81	1	0	0	0	0	0	0	0	1	14314	871	31	1		1	SH3RF2	5	145317698	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	141593	145317698	35597562	4812	8428											
SH3RF2	153769	broad.mit.edu	37	5	145439660	145439660	+	Missense_Mutation	SNP	C	C	T	rs139582730		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:145439660C>T	ENST00000511217.1	+	8	1839	c.1787C>T	c.(1786-1788)gCg>gTg	p.A596V	SH3RF2_ENST00000511705.1_3'UTR|SH3RF2_ENST00000359120.4_Missense_Mutation_p.A596V			Q8TEC5	SH3R2_HUMAN	SH3 domain containing ring finger 2	596							ligase activity|protein phosphatase 1 binding|zinc ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ATCCACTCCGCGGCCAGCTCC	0.627													29	31					0	0	1	0	0	T	145439660	C	T	145439660	3	4	81	1	0	0	0	0	1	0	0	0	14314	768	27	1	1817	1	SH3RF2	5	145439660	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	121962	145439660	35475600	4813	8429											
PLAC8L1	153770	broad.mit.edu	37	5	145464109	145464109	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:145464109C>T	ENST00000311450.4	-	4	477	c.420G>A	c.(418-420)gcG>gcA	p.A140A		NM_001029869.1	NP_001025040.1	A1L4L8	PL8L1_HUMAN	PLAC8-like 1	140										autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)|stomach(2)	10			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGCAGTGCACCGCCAGCCAGT	0.522													22	32					0	0	1	0	0	T	145464109	C	T	145464109	2	4	81	1	0	0	0	0	0	0	0	1	12064	639	23	1		1	PLAC8L1	5	145464109	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	24449	145464109	35451151	4814	8430											
LARS	51520	broad.mit.edu	37	5	145523015	145523015	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:145523015C>A	ENST00000394434.2	-	19	2003	c.1837G>T	c.(1837-1839)Ggt>Tgt	p.G613C	LARS_ENST00000274562.9_Missense_Mutation_p.G586C|LARS_ENST00000510191.1_Missense_Mutation_p.G559C|LARS_ENST00000545646.1_Missense_Mutation_p.G567C	NM_020117.9	NP_064502.9	Q9P2J5	SYLC_HUMAN	leucyl-tRNA synthetase	613					leucyl-tRNA aminoacylation	cytosol	ATP binding|leucine-tRNA ligase activity|protein binding			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|skin(2)|stomach(8)	34			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Leucine(DB00149)	TGCAAGTTACCCCCCTGCAAT	0.453													11	166					1.08611e-07	1.27405e-07	1	1	0	A	145523015	C	A	145523015	3	1	81	1	0	0	0	0	1	0	0	0	8673	623	22	5	1749	5	LARS	5	145523015	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	58906	145523015	35392245	4815	8431											
LARS	51520	broad.mit.edu	37	5	145524035	145524035	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:145524035G>A	ENST00000394434.2	-	17	1821	c.1655C>T	c.(1654-1656)aCa>aTa	p.T552I	LARS_ENST00000274562.9_Splice_Site_p.T525I|LARS_ENST00000510191.1_Splice_Site_p.T498I|LARS_ENST00000545646.1_Splice_Site_p.T506I	NM_020117.9	NP_064502.9	Q9P2J5	SYLC_HUMAN	leucyl-tRNA synthetase	552					leucyl-tRNA aminoacylation	cytosol	ATP binding|leucine-tRNA ligase activity|protein binding			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|skin(2)|stomach(8)	34			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Leucine(DB00149)	CCCATCTTACGTTTCCAGGTT	0.363													24	70					0	0	1	0	0	A	145524035	G	A	145524035	5	1	81	1	0	0	0	0	0	0	1	0	8673	1159	40	1	1939	1	LARS	5	145524035	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1020	145524035	35391225	4816	8432											
LARS	51520	broad.mit.edu	37	5	145552302	145552302	+	Translation_Start_Site	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:145552302T>C	ENST00000510191.1	-	0	171				LARS_ENST00000394434.2_Missense_Mutation_p.Y54C|LARS_ENST00000274562.9_Missense_Mutation_p.Y54C|LARS_ENST00000545646.1_Missense_Mutation_p.Y54C|LARS_ENST00000511505.1_5'UTR			Q9P2J5	SYLC_HUMAN	leucyl-tRNA synthetase						leucyl-tRNA aminoacylation	cytosol	ATP binding|leucine-tRNA ligase activity|protein binding			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|skin(2)|stomach(8)	34			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Leucine(DB00149)	TCCATTCATATATGGATATGG	0.348													7	45					0	0	1	0	0	C	145552302	T	C	145552302	1	2	81	1	0	0	0	0	0	0	0	0	8673	1406	49	3		3	LARS	5	145552302	Translation_Start_Site	SNP	T	TCGA-DU-6392-01A-11D-1705-08	28267	145552302	35362958	4817	8433											
RBM27	54439	broad.mit.edu	37	5	145664218	145664218	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:145664218C>T	ENST00000265271.5	+	20	3188	c.3022C>T	c.(3022-3024)Cgg>Tgg	p.R1008W	RBM27_ENST00000506502.1_Intron	NM_018989.1	NP_061862.1	Q9P2N5	RBM27_HUMAN	RNA binding motif protein 27	1008					mRNA processing	cytoplasm|nuclear speck	nucleotide binding|RNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(3)|endometrium(4)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TAAAGACCGTCGGCTACAGAT	0.373													29	71					0	0	1	0	0	T	145664218	C	T	145664218	3	4	81	1	0	0	0	0	1	0	0	0	13179	875	31	1	3100	1	RBM27	5	145664218	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	111916	145664218	35251042	4818	8434											
GPR151	134391	broad.mit.edu	37	5	145894747	145894747	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:145894747C>T	ENST00000311104.2	-	1	1006	c.930G>A	c.(928-930)tcG>tcA	p.S310S		NM_194251.2	NP_919227.2	Q8TDV0	GP151_HUMAN	G protein-coupled receptor 151	310						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(2)	14			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGAACTCTTCCGACATCACAA	0.478													10	16					0	0	1	0	0	T	145894747	C	T	145894747	2	4	81	1	0	0	0	0	0	0	0	1	6697	639	23	1		1	GPR151	5	145894747	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	230529	145894747	35020513	4819	8435											
PPP2R2B	5521	broad.mit.edu	37	5	146070694	146070694	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:146070694C>T	ENST00000394413.3	-	4	1014	c.444G>A	c.(442-444)ctG>ctA	p.L148L	PPP2R2B_ENST00000504198.1_Silent_p.L154L|PPP2R2B_ENST00000336640.6_Silent_p.L151L|PPP2R2B_ENST00000356826.3_Silent_p.L148L|PPP2R2B_ENST00000394410.2_Silent_p.L137L|PPP2R2B_ENST00000530902.1_5'UTR|PPP2R2B_ENST00000394414.1_Silent_p.L214L|PPP2R2B_ENST00000394411.4_Silent_p.L148L|PPP2R2B_ENST00000453001.1_Silent_p.L148L|PPP2R2B_ENST00000394409.3_Silent_p.L206L|PPP2R2B_ENST00000508545.2_Silent_p.L137L			Q00005	2ABB_HUMAN	protein phosphatase 2, regulatory subunit B, beta	148					apoptosis|signal transduction	cytoskeleton|mitochondrial outer membrane|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(9)|ovary(1)|prostate(4)|skin(3)	32			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CACTCACCCGCAGGGTTGTGA	0.562													23	35					0	0	1	0	0	T	146070694	C	T	146070694	2	4	81	1	0	0	0	0	0	0	0	1	12434	697	25	2		2	PPP2R2B	5	146070694	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	175947	146070694	34844566	4820	8436											
JAKMIP2	9832	broad.mit.edu	37	5	146997622	146997622	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:146997622A>G	ENST00000265272.5	-	19	2665	c.2198T>C	c.(2197-2199)aTc>aCc	p.I733T	JAKMIP2_ENST00000333010.6_Missense_Mutation_p.I691T|JAKMIP2_ENST00000507386.1_Missense_Mutation_p.I712T	NM_001270941.1|NM_014790.4	NP_001257870.1|NP_055605.2	Q96AA8	JKIP2_HUMAN	janus kinase and microtubule interacting protein 2	733						Golgi apparatus				NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACCAAACTTGATAACAGTTTC	0.408													29	61					0	0	1	0	0	G	146997622	A	G	146997622	3	3	81	1	0	0	0	0	1	0	0	0	7985	333	12	3	246	3	JAKMIP2	5	146997622	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	926928	146997622	33917638	4821	8437											
JAKMIP2	9832	broad.mit.edu	37	5	147020280	147020280	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:147020280T>C	ENST00000265272.5	-	9	1855	c.1388A>G	c.(1387-1389)gAt>gGt	p.D463G	JAKMIP2_ENST00000333010.6_Missense_Mutation_p.D421G|JAKMIP2_ENST00000507386.1_Missense_Mutation_p.D463G	NM_001270941.1|NM_014790.4	NP_001257870.1|NP_055605.2	Q96AA8	JKIP2_HUMAN	janus kinase and microtubule interacting protein 2	463						Golgi apparatus				NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATCCAAGTCATCATCAGGAGT	0.408													39	66					0	0	1	0	0	C	147020280	T	C	147020280	3	2	81	1	0	0	0	0	1	0	0	0	7985	1435	50	3	1096	3	JAKMIP2	5	147020280	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	22658	147020280	33894980	4822	8438											
SCGB3A2	117156	broad.mit.edu	37	5	147261008	147261008	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:147261008G>T	ENST00000296694.4	+	2	148		c.e2-1		SCGB3A2_ENST00000514688.1_Splice_Site|C5orf46_ENST00000510432.1_Intron|SCGB3A2_ENST00000504320.1_Splice_Site	NM_054023.4	NP_473364.1	Q96PL1	SG3A2_HUMAN	secretoglobin, family 3A, member 2							extracellular region	binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTTTCCTGCAGCTACTGCCTT	0.473													36	67					3.33393e-15	4.2498e-15	1	1	0	T	147261008	G	T	147261008	5	4	81	1	0	0	0	0	0	0	1	0	13955	985	34	4	61	4	SCGB3A2	5	147261008	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	240728	147261008	33654252	4823	8439											
ABLIM3	22885	broad.mit.edu	37	5	148627447	148627447	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:148627447C>T	ENST00000506113.1	+	17	2136	c.1654C>T	c.(1654-1656)Cgg>Tgg	p.R552W	ABLIM3_ENST00000504238.1_Missense_Mutation_p.R441W|ABLIM3_ENST00000309868.7_Missense_Mutation_p.R552W|AC012613.2_ENST00000523176.1_RNA|RP11-331K21.1_ENST00000522685.1_RNA|ABLIM3_ENST00000508983.1_Missense_Mutation_p.R519W|ABLIM3_ENST00000326685.7_Missense_Mutation_p.R457W|ABLIM3_ENST00000356541.3_Missense_Mutation_p.R441W|ABLIM3_ENST00000517451.1_Missense_Mutation_p.R38W|RP11-331K21.1_ENST00000512647.2_RNA			O94929	ABLM3_HUMAN	actin binding LIM protein family, member 3	552					axon guidance|cytoskeleton organization	cytoplasm	actin binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACCAGCAGCCGGGAAGCCCT	0.597													12	20					0	0	1	0	0	T	148627447	C	T	148627447	3	4	81	1	0	0	0	0	1	0	0	0	96	643	23	1	1720	1	ABLIM3	5	148627447	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1366439	148627447	32287813	4824	8440											
PCYOX1L	78991	broad.mit.edu	37	5	148747676	148747676	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:148747676T>G	ENST00000514349.1	+	5	1253	c.674T>G	c.(673-675)tTt>tGt	p.F225C	PCYOX1L_ENST00000274569.4_Missense_Mutation_p.F315C			Q8NBM8	PCYXL_HUMAN	prenylcysteine oxidase 1 like	315					prenylcysteine catabolic process	extracellular region	oxidoreductase activity, acting on a sulfur group of donors, oxygen as acceptor			breast(2)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AACTTAACCTTTGCAGGCTTC	0.567											OREG0016912	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	132					0	0	1	0	0	G	148747676	T	G	148747676	3	3	81	1	0	0	0	0	1	0	0	0	11656	1841	64	5	966	5	PCYOX1L	5	148747676	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	120229	148747676	32167584	4825	8441											
IL17B	27190	broad.mit.edu	37	5	148756437	148756437	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:148756437C>T	ENST00000261796.3	-	2	223	c.173G>A	c.(172-174)cGc>cAc	p.R58H	IL17B_ENST00000505432.1_5'UTR	NM_014443.2	NP_055258.1	Q9UHF5	IL17B_HUMAN	interleukin 17B	58					cell-cell signaling|immune response|inflammatory response	extracellular space	cytokine activity|signal transducer activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|prostate(1)|urinary_tract(1)	8			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCCTCCATGCGGGCATACGG	0.617													43	45					0	0	1	0	0	T	148756437	C	T	148756437	3	4	81	1	0	0	0	0	1	0	0	0	7679	768	27	1	377	1	IL17B	5	148756437	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	8761	148756437	32158823	4826	8442											
CSNK1A1	1452	broad.mit.edu	37	5	148885022	148885022	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:148885022T>G	ENST00000377843.2	-	9	1473	c.994A>C	c.(994-996)Agt>Cgt	p.S332R	CSNK1A1_ENST00000515435.1_Intron|CSNK1A1_ENST00000606299.1_Missense_Mutation_p.S92R|CSNK1A1_ENST00000261798.5_Intron|CSNK1A1_ENST00000606719.1_Missense_Mutation_p.S129R|CSNK1A1_ENST00000504676.1_Intron|CSNK1A1_ENST00000515768.1_Missense_Mutation_p.S360R	NM_001025105.1|NM_001892.4	NP_001020276.1|NP_001883.4	P48729	KC1A_HUMAN	casein kinase 1, alpha 1	332					cell division|mitosis|Wnt receptor signaling pathway	centrosome|condensed chromosome kinetochore|cytosol|nuclear speck	ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(4)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.0407)		TTCATGTTACTCTTGGTTTTG	0.448													23	43					0	0	1	0	0	G	148885022	T	G	148885022	3	3	81	1	0	0	0	0	1	0	0	0	3975	1551	54	5	27	5	CSNK1A1	5	148885022	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	128585	148885022	32030238	4827	8443											
CSNK1A1	1452	broad.mit.edu	37	5	148899866	148899866	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:148899866C>T	ENST00000261798.5	-	4	875	c.443G>A	c.(442-444)cGt>cAt	p.R148H	CSNK1A1_ENST00000377843.2_Missense_Mutation_p.R148H|CSNK1A1_ENST00000515435.1_Missense_Mutation_p.R59H|CSNK1A1_ENST00000504676.1_Missense_Mutation_p.R59H|CSNK1A1_ENST00000515768.1_Missense_Mutation_p.R148H	NM_001271741.1	NP_001258670.1	P48729	KC1A_HUMAN	casein kinase 1, alpha 1	148	Protein kinase.				cell division|mitosis|Wnt receptor signaling pathway	centrosome|condensed chromosome kinetochore|cytosol|nuclear speck	ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(4)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.0407)		ATTACAGTGACGCCCAATACC	0.318													25	27					0	0	1	0	0	T	148899866	C	T	148899866	3	4	81	1	0	0	0	0	1	0	0	0	3975	536	19	1	686	1	CSNK1A1	5	148899866	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	14844	148899866	32015394	4828	8444											
ARHGEF37	389337	broad.mit.edu	37	5	148996239	148996239	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:148996239G>C	ENST00000333677.6	+	5	731	c.568G>C	c.(568-570)Gcc>Ccc	p.A190P		NM_001001669.2	NP_001001669.2	A1IGU5	ARH37_HUMAN	Rho guanine nucleotide exchange factor (GEF) 37	190	DH.				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			large_intestine(5)|lung(6)|ovary(1)|prostate(2)|stomach(3)	17						AGTCCCTGATGCCAGTGCCTA	0.517													20	34					0	0	1	0	0	C	148996239	G	C	148996239	3	2	81	1	0	0	0	0	1	0	0	0	903	1319	46	5	582	5	ARHGEF37	5	148996239	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	96373	148996239	31919021	4829	8445											
ARHGEF37	389337	broad.mit.edu	37	5	148997783	148997783	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:148997783C>A	ENST00000333677.6	+	6	866	c.703C>A	c.(703-705)Ctg>Atg	p.L235M		NM_001001669.2	NP_001001669.2	A1IGU5	ARH37_HUMAN	Rho guanine nucleotide exchange factor (GEF) 37	235					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			large_intestine(5)|lung(6)|ovary(1)|prostate(2)|stomach(3)	17						CCGGGAGCGGCTGGCCCGCAT	0.622													35	49					4.32679e-17	5.57264e-17	1	1	0	A	148997783	C	A	148997783	3	1	81	1	0	0	0	0	1	0	0	0	903	796	28	4	721	4	ARHGEF37	5	148997783	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1544	148997783	31917477	4830	8446											
ARHGEF37	389337	broad.mit.edu	37	5	149011551	149011551	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:149011551G>T	ENST00000333677.6	+	13	1988	c.1825G>T	c.(1825-1827)Gcc>Tcc	p.A609S		NM_001001669.2	NP_001001669.2	A1IGU5	ARH37_HUMAN	Rho guanine nucleotide exchange factor (GEF) 37	609	SH3 2.				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			large_intestine(5)|lung(6)|ovary(1)|prostate(2)|stomach(3)	17						TCAGGTCATAGCCGCGTACCC	0.562													14	21					0.00316338	0.00333123	1	1	0	T	149011551	G	T	149011551	3	4	81	1	0	0	0	0	1	0	0	0	903	971	34	4	1871	4	ARHGEF37	5	149011551	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	13768	149011551	31903709	4831	8447											
PPARGC1B	133522	broad.mit.edu	37	5	149212524	149212524	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:149212524C>A	ENST00000309241.5	+	5	920	c.888C>A	c.(886-888)acC>acA	p.T296T	PPARGC1B_ENST00000394320.3_Silent_p.T296T|PPARGC1B_ENST00000360453.4_Silent_p.T257T|PPARGC1B_ENST00000403750.1_Silent_p.T232T	NM_133263.3	NP_573570.3	Q86YN6	PRGC2_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 beta	296					estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter	mediator complex	AF-2 domain binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity|RNA binding|RNA polymerase II transcription cofactor activity			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			ACATGCACACCTACTGCCTCC	0.667													21	40					1.96895e-08	2.34134e-08	1	1	0	A	149212524	C	A	149212524	2	1	81	1	0	0	0	0	0	0	0	1	12346	668	24	4		4	PPARGC1B	5	149212524	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	200973	149212524	31702736	4832	8448	36	2									
PPARGC1B	133522	broad.mit.edu	37	5	149212534	149212534	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:149212534C>A	ENST00000309241.5	+	5	930	c.898C>A	c.(898-900)Ccc>Acc	p.P300T	PPARGC1B_ENST00000394320.3_Missense_Mutation_p.P300T|PPARGC1B_ENST00000360453.4_Missense_Mutation_p.P261T|PPARGC1B_ENST00000403750.1_Missense_Mutation_p.P236T	NM_133263.3	NP_573570.3	Q86YN6	PRGC2_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 beta	300					estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter	mediator complex	AF-2 domain binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity|RNA binding|RNA polymerase II transcription cofactor activity			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			CTACTGCCTCCCCCAGAGGAA	0.662													27	34					1.66031e-10	2.03454e-10	1	1	0	A	149212534	C	A	149212534	3	1	81	1	0	0	0	0	1	0	0	0	12346	623	22	5	923	5	PPARGC1B	5	149212534	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	10	149212534	31702726	4833	8449	36	2									
CSF1R	1436	broad.mit.edu	37	5	149435686	149435686	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:149435686C>T	ENST00000286301.3	-	19	2748	c.2457G>A	c.(2455-2457)gtG>gtA	p.V819V		NM_005211.3	NP_005202.2	P07333	CSF1R_HUMAN	colony stimulating factor 1 receptor	819	Protein kinase.				cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|receptor complex	ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	93			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)	CCATCCACTTCACAGGCAGGC	0.592													13	12					0	0	1	0	0	T	149435686	C	T	149435686	2	4	81	1	0	0	0	0	0	0	0	1	3957	813	29	2		2	CSF1R	5	149435686	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	223152	149435686	31479574	4834	8450											
CSF1R	1436	broad.mit.edu	37	5	149437134	149437134	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:149437134C>T	ENST00000286301.3	-	16	2445	c.2154G>A	c.(2152-2154)caG>caA	p.Q718Q		NM_005211.3	NP_005202.2	P07333	CSF1R_HUMAN	colony stimulating factor 1 receptor	718	Protein kinase.				cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|receptor complex	ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	93			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)	TGTCCACACCCTGGCTGGAGA	0.577													17	26					0	0	1	0	0	T	149437134	C	T	149437134	2	4	81	1	0	0	0	0	0	0	0	1	3957	680	24	2		2	CSF1R	5	149437134	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1448	149437134	31478126	4835	8451											
CSF1R	1436	broad.mit.edu	37	5	149439387	149439387	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:149439387C>T	ENST00000286301.3	-	15	2299	c.2008G>A	c.(2008-2010)Gac>Aac	p.D670N	CSF1R_ENST00000515239.1_5'UTR	NM_005211.3	NP_005202.2	P07333	CSF1R_HUMAN	colony stimulating factor 1 receptor	670	Protein kinase.				cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|receptor complex	ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	93			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)	TTGAGCAGGTCGCCATAGCAA	0.612													19	38					0	0	1	0	0	T	149439387	C	T	149439387	3	4	81	1	0	0	0	0	1	0	0	0	3957	884	31	1	942	1	CSF1R	5	149439387	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2253	149439387	31475873	4836	8452											
CSF1R	1436	broad.mit.edu	37	5	149441346	149441346	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:149441346C>T	ENST00000286301.3	-	12	1984	c.1693G>A	c.(1693-1695)Gac>Aac	p.D565N	CSF1R_ENST00000515239.1_5'UTR	NM_005211.3	NP_005202.2	P07333	CSF1R_HUMAN	colony stimulating factor 1 receptor	565					cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|receptor complex	ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	93			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)	TGCGTGGGGTCGATGAAAGTA	0.552													43	75					0	0	1	0	0	T	149441346	C	T	149441346	3	4	81	1	0	0	0	0	1	0	0	0	3957	884	31	1	1269	1	CSF1R	5	149441346	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1959	149441346	31473914	4837	8453											
CSF1R	1436	broad.mit.edu	37	5	149457685	149457685	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:149457685T>C	ENST00000286301.3	-	5	1010	c.719A>G	c.(718-720)aAc>aGc	p.N240S	CSF1R_ENST00000543093.1_Missense_Mutation_p.N240S	NM_005211.3	NP_005202.2	P07333	CSF1R_HUMAN	colony stimulating factor 1 receptor	240	Ig-like C2-type 3.				cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|receptor complex	ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	93			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)	CTTGGTGTTGTTGTGTTGGAG	0.572													4	91					0	0	1	0	0	C	149457685	T	C	149457685	3	2	81	1	0	0	0	0	1	0	0	0	3957	1725	60	3	2271	3	CSF1R	5	149457685	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	16339	149457685	31457575	4838	8454											
CSF1R	1436	broad.mit.edu	37	5	149459812	149459812	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:149459812G>T	ENST00000286301.3	-	4	686	c.395C>A	c.(394-396)cCg>cAg	p.P132Q	CSF1R_ENST00000543093.1_Missense_Mutation_p.P132Q	NM_005211.3	NP_005202.2	P07333	CSF1R_HUMAN	colony stimulating factor 1 receptor	132	Ig-like C2-type 2.				cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|receptor complex	ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	93			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)	TTCCAGCACCGGGTCTGTGAG	0.642													4	28					0.00024832	0.000269806	1	1	0	T	149459812	G	T	149459812	3	4	81	1	0	0	0	0	1	0	0	0	3957	1116	39	5	2599	5	CSF1R	5	149459812	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2127	149459812	31455448	4839	8455											
PDGFRB	5159	broad.mit.edu	37	5	149501462	149501462	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:149501462G>A	ENST00000261799.4	-	16	2794	c.2325C>T	c.(2323-2325)taC>taT	p.Y775Y		NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor, beta polypeptide	775	Protein kinase.				aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	CGTAGTTATCGTAAGGGGCCA	0.512			T	"ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"	"MPD, AML, CMML, CML"								29	57					0	0	1	0	0	A	149501462	G	A	149501462	2	1	81	1	0	0	0	0	0	0	0	1	11709	1140	40	1		1	PDGFRB	5	149501462	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	41650	149501462	31413798	4840	8456											
SLC6A7	6534	broad.mit.edu	37	5	149578855	149578855	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:149578855C>T	ENST00000230671.2	+	5	1020	c.649C>T	c.(649-651)Ctc>Ttc	p.L217F	SLC6A7_ENST00000524041.1_Missense_Mutation_p.L217F	NM_014228.3	NP_055043.2	Q99884	SC6A7_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 7	217						integral to plasma membrane|membrane fraction	neurotransmitter:sodium symporter activity|proline:sodium symporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1)|stomach(1)	16		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Proline(DB00172)	CCGCTGGAACCTCTGCCTCTG	0.637													29	29					0	0	1	0	0	T	149578855	C	T	149578855	3	4	81	1	0	0	0	0	1	0	0	0	14744	681	24	2	667	2	SLC6A7	5	149578855	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	77393	149578855	31336405	4841	8457											
CAMK2A	815	broad.mit.edu	37	5	149602646	149602646	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:149602646C>T	ENST00000348628.6	-	17	2004	c.1339G>A	c.(1339-1341)Gcc>Acc	p.A447T	CAMK2A_ENST00000351010.6_5'UTR|CAMK2A_ENST00000398376.3_Missense_Mutation_p.A458T	NM_015981.3|NM_171825.2	NP_057065.2|NP_741960.1	Q9UQM7	KCC2A_HUMAN	calcium/calmodulin-dependent protein kinase II alpha	447					interferon-gamma-mediated signaling pathway|positive regulation of NF-kappaB transcription factor activity|synaptic transmission	cell junction|cytosol|endocytic vesicle membrane|nucleoplasm|presynaptic membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|skin(1)|stomach(1)	15		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCCGACTGGGCGGTGCGTGGG	0.642													24	33					0	0	1	0	0	T	149602646	C	T	149602646	3	4	81	1	0	0	0	0	1	0	0	0	2617	768	27	1	105	1	CAMK2A	5	149602646	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	23791	149602646	31312614	4842	8458											
CAMK2A	815	broad.mit.edu	37	5	149619269	149619269	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:149619269T>C	ENST00000398376.3	-	14	1018	c.1015A>G	c.(1015-1017)Atg>Gtg	p.M339V	CAMK2A_ENST00000348628.6_Intron|CAMK2A_ENST00000351010.6_Intron			Q9UQM7	KCC2A_HUMAN	calcium/calmodulin-dependent protein kinase II alpha	328					interferon-gamma-mediated signaling pathway|positive regulation of NF-kappaB transcription factor activity|synaptic transmission	cell junction|cytosol|endocytic vesicle membrane|nucleoplasm|presynaptic membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|skin(1)|stomach(1)	15		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ACACTCACCATTAACTGAACG	0.562													14	18					0	0	1	0	0	C	149619269	T	C	149619269	3	2	81	1	0	0	0	0	1	0	0	0	2617	1493	52	3	478	3	CAMK2A	5	149619269	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	16623	149619269	31295991	4843	8459											
TCOF1	6949	broad.mit.edu	37	5	149749101	149749101	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:149749101C>T	ENST00000451292.1	+	6	683	c.575C>T	c.(574-576)tCa>tTa	p.S192L	TCOF1_ENST00000445265.2_Missense_Mutation_p.S192L|TCOF1_ENST00000394269.3_Missense_Mutation_p.S192L|TCOF1_ENST00000513346.1_Missense_Mutation_p.S192L|TCOF1_ENST00000377797.3_Missense_Mutation_p.S192L|TCOF1_ENST00000504761.2_Missense_Mutation_p.S192L|TCOF1_ENST00000439160.2_Missense_Mutation_p.S192L|TCOF1_ENST00000323668.7_Missense_Mutation_p.S192L			Q13428	TCOF_HUMAN	Treacher Collins-Franceschetti syndrome 1	192					skeletal system development	nucleolus	protein binding|transporter activity			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGGATGGTGTCAGCGGGCCAG	0.632													10	30					0	0	1	0	0	T	149749101	C	T	149749101	3	4	81	1	0	0	0	0	1	0	0	0	15768	838	29	2	597	2	TCOF1	5	149749101	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	129832	149749101	31166159	4844	8460											
TCOF1	6949	broad.mit.edu	37	5	149759187	149759187	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:149759187G>T	ENST00000451292.1	+	17	2859	c.2751G>T	c.(2749-2751)ggG>ggT	p.G917G	TCOF1_ENST00000445265.2_Silent_p.G840G|TCOF1_ENST00000394269.3_Silent_p.G917G|TCOF1_ENST00000513346.1_Silent_p.G917G|TCOF1_ENST00000506063.1_3'UTR|TCOF1_ENST00000377797.3_Silent_p.G917G|TCOF1_ENST00000504761.2_Silent_p.G917G|TCOF1_ENST00000439160.2_Silent_p.G917G|TCOF1_ENST00000323668.7_Silent_p.G840G			Q13428	TCOF_HUMAN	Treacher Collins-Franceschetti syndrome 1	917					skeletal system development	nucleolus	protein binding|transporter activity			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CACCTCCTGGGAAGACAGGGC	0.637													5	63					0.014758	0.0152304	1	1	0	T	149759187	G	T	149759187	2	4	81	1	0	0	0	0	0	0	0	1	15768	1161	41	5		5	TCOF1	5	149759187	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	10086	149759187	31156073	4845	8461											
NDST1	3340	broad.mit.edu	37	5	149901306	149901306	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:149901306G>A	ENST00000261797.6	+	2	992	c.490G>A	c.(490-492)Gtg>Atg	p.V164M	NDST1_ENST00000523767.1_Missense_Mutation_p.V164M	NM_001543.4	NP_001534.1	P52848	NDST1_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1	164	Heparan sulfate N-deacetylase 1.				heparan sulfate proteoglycan biosynthetic process|inflammatory response	Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	34		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGCCTACGGCGTGGGCATCAT	0.542													9	120					0	0	1	0	0	A	149901306	G	A	149901306	3	1	81	1	0	0	0	0	1	0	0	0	10302	1145	40	1	492	1	NDST1	5	149901306	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	142119	149901306	31013954	4846	8462											
NDST1	3340	broad.mit.edu	37	5	149927815	149927815	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:149927815G>A	ENST00000261797.6	+	12	2683	c.2181G>A	c.(2179-2181)aaG>aaA	p.K727K	NDST1_ENST00000523767.1_Intron	NM_001543.4	NP_001534.1	P52848	NDST1_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1	727	Heparan sulfate N-sulfotransferase 1.				heparan sulfate proteoglycan biosynthetic process|inflammatory response	Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	34		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGGCCCTAAAGTACACCTTCC	0.612													14	23					0	0	1	0	0	A	149927815	G	A	149927815	2	1	81	1	0	0	0	0	0	0	0	1	10302	1020	36	2		2	NDST1	5	149927815	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	26509	149927815	30987445	4847	8463											
ZNF300	91975	broad.mit.edu	37	5	150276166	150276166	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:150276166G>T	ENST00000446148.2	-	7	1110	c.683C>A	c.(682-684)cCt>cAt	p.P228H	ZNF300_ENST00000274599.5_Missense_Mutation_p.P212H|ZNF300_ENST00000394226.2_Missense_Mutation_p.P212H|ZNF300_ENST00000418587.2_Missense_Mutation_p.P176H|ZNF300_ENST00000427179.1_3'UTR	NM_001172831.1	NP_001166302.1	Q96RE9	ZN300_HUMAN	zinc finger protein 300	212					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)	27		Medulloblastoma(196;0.109)|all_hematologic(541;0.131)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ACTCTGATCAGGTTTTTTTCT	0.328													20	101					2.37509e-13	2.99406e-13	1	1	0	T	150276166	G	T	150276166	3	4	81	1	0	0	0	0	1	0	0	0	17888	1000	35	4	1183	4	ZNF300	5	150276166	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	348351	150276166	30639094	4848	8464											
ZNF300	91975	broad.mit.edu	37	5	150276343	150276343	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:150276343C>T	ENST00000446148.2	-	7	933	c.506G>A	c.(505-507)aGc>aAc	p.S169N	ZNF300_ENST00000274599.5_Missense_Mutation_p.S153N|ZNF300_ENST00000394226.2_Missense_Mutation_p.S153N|ZNF300_ENST00000418587.2_Missense_Mutation_p.S117N|ZNF300_ENST00000427179.1_3'UTR	NM_001172831.1	NP_001166302.1	Q96RE9	ZN300_HUMAN	zinc finger protein 300	153					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)	27		Medulloblastoma(196;0.109)|all_hematologic(541;0.131)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CACTGTTTTGCTGTTAACAAA	0.378													37	91					0	0	1	0	0	T	150276343	C	T	150276343	3	4	81	1	0	0	0	0	1	0	0	0	17888	797	28	2	1360	2	ZNF300	5	150276343	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	177	150276343	30638917	4849	8465	37	2									
ZNF300	91975	broad.mit.edu	37	5	150276353	150276353	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:150276353A>C	ENST00000446148.2	-	7	923	c.496T>G	c.(496-498)Ttt>Gtt	p.F166V	ZNF300_ENST00000274599.5_Missense_Mutation_p.F150V|ZNF300_ENST00000394226.2_Missense_Mutation_p.F150V|ZNF300_ENST00000418587.2_Missense_Mutation_p.F114V|ZNF300_ENST00000427179.1_3'UTR	NM_001172831.1	NP_001166302.1	Q96RE9	ZN300_HUMAN	zinc finger protein 300	150					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)	27		Medulloblastoma(196;0.109)|all_hematologic(541;0.131)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTGTTAACAAATGTGACCTGC	0.393													47	85					0	0	1	0	0	C	150276353	A	C	150276353	3	2	81	1	0	0	0	0	1	0	0	0	17888	101	4	4	1370	4	ZNF300	5	150276353	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	10	150276353	30638907	4850	8466	37	2									
TNIP1	10318	broad.mit.edu	37	5	150444602	150444602	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:150444602C>A	ENST00000389378.2	-	2	643	c.55G>T	c.(55-57)Gga>Tga	p.G19*	TNIP1_ENST00000523338.1_Nonsense_Mutation_p.G19*|TNIP1_ENST00000518977.1_Nonsense_Mutation_p.G19*|TNIP1_ENST00000523200.1_Nonsense_Mutation_p.G19*|TNIP1_ENST00000521591.1_Nonsense_Mutation_p.G19*|TNIP1_ENST00000520931.1_Intron|TNIP1_ENST00000315050.7_Nonsense_Mutation_p.G19*|TNIP1_ENST00000522226.1_Nonsense_Mutation_p.G19*|TNIP1_ENST00000524280.1_Nonsense_Mutation_p.G19*	NM_001252385.1|NM_001252393.1|NM_001258454.1|NM_006058.4	NP_001239314.1|NP_001239322.1|NP_001245383.1|NP_006049.3	Q15025	TNIP1_HUMAN	TNFAIP3 interacting protein 1	19					defense response|glycoprotein biosynthetic process|negative regulation of viral genome replication|translation	cytoplasm|nucleus	protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(5)|ovary(2)|prostate(2)|skin(3)	23		Medulloblastoma(196;0.0911)|all_hematologic(541;0.207)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GATGCCTCTCCTGAGGGCACG	0.587													18	27					6.94344e-10	8.44171e-10	1	1	0	A	150444602	C	A	150444602	4	1	81	1	0	0	0	0	0	1	0	0	16374	690	24	4	1923	4	TNIP1	5	150444602	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	168249	150444602	30470658	4851	8467											
ANXA6	309	broad.mit.edu	37	5	150488054	150488054	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:150488054T>C	ENST00000354546.5	-	23	1969	c.1742A>G	c.(1741-1743)gAg>gGg	p.E581G	ANXA6_ENST00000356496.5_Missense_Mutation_p.E575G|ANXA6_ENST00000523714.1_Missense_Mutation_p.E549G|ANXA6_ENST00000377751.5_Missense_Mutation_p.E238G|ANXA6_ENST00000521512.1_Missense_Mutation_p.E368G	NM_001155.4	NP_001146.2	P08133	ANXA6_HUMAN	annexin A6	581						melanosome	calcium ion binding|calcium-dependent phospholipid binding|protein binding			endometrium(2)|kidney(1)|lung(9)	12		Medulloblastoma(196;0.0912)|all_hematologic(541;0.208)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCCAGACATCTCCTTCTTGAT	0.537													83	114					0	0	1	0	0	C	150488054	T	C	150488054	3	2	81	1	0	0	0	0	1	0	0	0	716	1551	54	3	295	3	ANXA6	5	150488054	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	43452	150488054	30427206	4852	8468											
ANXA6	309	broad.mit.edu	37	5	150512099	150512099	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:150512099G>A	ENST00000354546.5	-	10	901	c.674C>T	c.(673-675)cCg>cTg	p.P225L	ANXA6_ENST00000356496.5_Missense_Mutation_p.P225L|ANXA6_ENST00000523714.1_Missense_Mutation_p.P193L|ANXA6_ENST00000377751.5_Intron|ANXA6_ENST00000521512.1_Intron	NM_001155.4	NP_001146.2	P08133	ANXA6_HUMAN	annexin A6	225						melanosome	calcium ion binding|calcium-dependent phospholipid binding|protein binding			endometrium(2)|kidney(1)|lung(9)	12		Medulloblastoma(196;0.0912)|all_hematologic(541;0.208)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGCTTCAATCGGCTTCCCTGT	0.542													5	13					0	0	1	0	0	A	150512099	G	A	150512099	3	1	81	1	0	0	0	0	1	0	0	0	716	1116	39	1	1415	1	ANXA6	5	150512099	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	24045	150512099	30403161	4853	8469											
ANXA6	309	broad.mit.edu	37	5	150514015	150514015	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:150514015G>A	ENST00000354546.5	-	8	746	c.519C>T	c.(517-519)agC>agT	p.S173S	ANXA6_ENST00000356496.5_Silent_p.S173S|ANXA6_ENST00000523714.1_Silent_p.S141S|ANXA6_ENST00000377751.5_Intron|ANXA6_ENST00000521512.1_Intron	NM_001155.4	NP_001146.2	P08133	ANXA6_HUMAN	annexin A6	173						melanosome	calcium ion binding|calcium-dependent phospholipid binding|protein binding			endometrium(2)|kidney(1)|lung(9)	12		Medulloblastoma(196;0.0912)|all_hematologic(541;0.208)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCAGGTCCTCGCTCACTACGT	0.562													59	83					0	0	1	0	0	A	150514015	G	A	150514015	2	1	81	1	0	0	0	0	0	0	0	1	716	1078	38	1		1	ANXA6	5	150514015	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1916	150514015	30401245	4854	8470											
FAT2	2196	broad.mit.edu	37	5	150892037	150892037	+	Missense_Mutation	SNP	C	C	T	rs139222111		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:150892037C>T	ENST00000261800.5	-	20	11606	c.11594G>A	c.(11593-11595)cGc>cAc	p.R3865H	CTC-251D13.1_ENST00000606930.1_RNA	NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	3865	Laminin G-like.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AACCATCAGGCGAATGGAAGC	0.582													30	39					0	0	1	0	0	T	150892037	C	T	150892037	3	4	81	1	0	0	0	0	1	0	0	0	5723	768	27	1	1471	1	FAT2	5	150892037	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	378022	150892037	30023223	4855	8471											
FAT2	2196	broad.mit.edu	37	5	150900894	150900894	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:150900894C>T	ENST00000261800.5	-	18	11272	c.11260G>A	c.(11260-11262)Gcc>Acc	p.A3754T		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	3754					epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTGAGCCTGGCGGTGCTGTAC	0.612													20	21					0	0	1	0	0	T	150900894	C	T	150900894	3	4	81	1	0	0	0	0	1	0	0	0	5723	768	27	1	1813	1	FAT2	5	150900894	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	8857	150900894	30014366	4856	8472											
FAT2	2196	broad.mit.edu	37	5	150901209	150901209	+	Missense_Mutation	SNP	G	G	A	rs142359154		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:150901209G>A	ENST00000261800.5	-	18	10957	c.10945C>T	c.(10945-10947)Cgg>Tgg	p.R3649W		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	3649					epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGCAGGTTCCGCCAGTGGTCA	0.607													9	30					0	0	1	0	0	A	150901209	G	A	150901209	3	1	81	1	0	0	0	0	1	0	0	0	5723	1086	38	1	2128	1	FAT2	5	150901209	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	315	150901209	30014051	4857	8473											
FAT2	2196	broad.mit.edu	37	5	150911154	150911154	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:150911154G>A	ENST00000261800.5	-	13	9817	c.9805C>T	c.(9805-9807)Cgc>Tgc	p.R3269C		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	3269	Cadherin 29.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCACCTGTGCGAGCATCCAGG	0.652													8	12					0	0	1	0	0	A	150911154	G	A	150911154	3	1	81	1	0	0	0	0	1	0	0	0	5723	1058	37	1	3288	1	FAT2	5	150911154	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	9945	150911154	30004106	4858	8474											
FAT2	2196	broad.mit.edu	37	5	150917383	150917383	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:150917383G>A	ENST00000261800.5	-	11	9176	c.9164C>T	c.(9163-9165)gCg>gTg	p.A3055V		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	3055	Cadherin 27.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GAATTCATGCGCCCCAGGGCC	0.463													27	35					0	0	1	0	0	A	150917383	G	A	150917383	3	1	81	1	0	0	0	0	1	0	0	0	5723	1087	38	1	3937	1	FAT2	5	150917383	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	6229	150917383	29997877	4859	8475											
FAT2	2196	broad.mit.edu	37	5	150922829	150922829	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:150922829A>G	ENST00000261800.5	-	9	7871	c.7859T>C	c.(7858-7860)gTc>gCc	p.V2620A		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	2620	Cadherin 23.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGAGTAGGTGACATCTGCGTT	0.463													15	165					0	0	1	0	0	G	150922829	A	G	150922829	3	3	81	1	0	0	0	0	1	0	0	0	5723	275	10	3	5250	3	FAT2	5	150922829	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	5446	150922829	29992431	4860	8476											
FAT2	2196	broad.mit.edu	37	5	150929016	150929016	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:150929016A>C	ENST00000261800.5	-	8	4641	c.4629T>G	c.(4627-4629)atT>atG	p.I1543M		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	1543	Cadherin 13.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCTCCACATGAATGGTCACCC	0.542													17	24					0	0	1	0	0	C	150929016	A	C	150929016	3	2	81	1	0	0	0	0	1	0	0	0	5723	242	9	5	8484	5	FAT2	5	150929016	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	6187	150929016	29986244	4861	8477											
FAT2	2196	broad.mit.edu	37	5	150934222	150934222	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:150934222C>T	ENST00000261800.5	-	4	3658	c.3646G>A	c.(3646-3648)Gac>Aac	p.D1216N		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	1216	Cadherin 10.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCCCCATTGTCCAGCACAGTC	0.473													24	39					0	0	1	0	0	T	150934222	C	T	150934222	3	4	81	1	0	0	0	0	1	0	0	0	5723	855	30	2	9483	2	FAT2	5	150934222	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	5206	150934222	29981038	4862	8478											
FAT2	2196	broad.mit.edu	37	5	150945414	150945414	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:150945414G>T	ENST00000261800.5	-	1	3091	c.3079C>A	c.(3079-3081)Ctc>Atc	p.L1027I		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	1027	Cadherin 8.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGAGGGTGGAGATTCTCATTC	0.602													27	28					3.28513e-13	4.13666e-13	1	1	0	T	150945414	G	T	150945414	3	4	81	1	0	0	0	0	1	0	0	0	5723	942	33	4	10062	4	FAT2	5	150945414	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	11192	150945414	29969846	4863	8479											
FAT2	2196	broad.mit.edu	37	5	150945768	150945768	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:150945768T>C	ENST00000261800.5	-	1	2737	c.2725A>G	c.(2725-2727)Act>Gct	p.T909A		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	909	Cadherin 7.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ATCAGGTCAGTGACAGAGAAG	0.562													13	31					0	0	1	0	0	C	150945768	T	C	150945768	3	2	81	1	0	0	0	0	1	0	0	0	5723	1696	59	3	10416	3	FAT2	5	150945768	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	354	150945768	29969492	4864	8480											
FAT2	2196	broad.mit.edu	37	5	150946459	150946459	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:150946459T>G	ENST00000261800.5	-	1	2046	c.2034A>C	c.(2032-2034)caA>caC	p.Q678H		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	678					epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCTTTGTGAATTGTGTCAATA	0.398													11	94					0	0	1	0	0	G	150946459	T	G	150946459	3	3	81	1	0	0	0	0	1	0	0	0	5723	1490	52	4	11107	4	FAT2	5	150946459	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	691	150946459	29968801	4865	8481											
FAT2	2196	broad.mit.edu	37	5	150946498	150946498	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:150946498T>C	ENST00000261800.5	-	1	2007	c.1995A>G	c.(1993-1995)gaA>gaG	p.E665E		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	665	Cadherin 5.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTACAGGAACTTCAAAATGAG	0.423													30	55					0	0	1	0	0	C	150946498	T	C	150946498	2	2	81	1	0	0	0	0	0	0	0	1	5723	1606	56	3		3	FAT2	5	150946498	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	39	150946498	29968762	4866	8482											
FAT2	2196	broad.mit.edu	37	5	150947377	150947377	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:150947377A>G	ENST00000261800.5	-	1	1128	c.1116T>C	c.(1114-1116)agT>agC	p.S372S		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	372	Cadherin 3.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGGAAAACTCACTAAGCTGCA	0.507													5	52					0	0	1	0	0	G	150947377	A	G	150947377	2	3	81	1	0	0	0	0	0	0	0	1	5723	156	6	3		3	FAT2	5	150947377	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	879	150947377	29967883	4867	8483											
FAT2	2196	broad.mit.edu	37	5	150947407	150947407	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:150947407G>A	ENST00000261800.5	-	1	1098	c.1086C>T	c.(1084-1086)ttC>ttT	p.F362F		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	362					epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CAGCCTTCTCGAATTTGAGGG	0.547													48	40					0	0	1	0	0	A	150947407	G	A	150947407	2	1	81	1	0	0	0	0	0	0	0	1	5723	1049	37	1		1	FAT2	5	150947407	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	30	150947407	29967853	4868	8484											
ATOX1	475	broad.mit.edu	37	5	151125971	151125971	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:151125971C>T	ENST00000521264.1	-	3	246	c.137G>A	c.(136-138)tGc>tAc	p.C46Y	ATOX1_ENST00000522314.1_Missense_Mutation_p.C32Y|ATOX1_ENST00000522710.1_Missense_Mutation_p.C41Y|ATOX1_ENST00000524142.1_Missense_Mutation_p.C41Y|ATOX1_ENST00000313115.6_Missense_Mutation_p.C41Y|ATOX1_ENST00000520382.1_Missense_Mutation_p.C32Y			O00244	ATOX1_HUMAN	antioxidant 1 copper chaperone	41	HMA.				cellular copper ion homeostasis|copper ion transport|response to oxidative stress	cytosol	copper chaperone activity|copper-dependent protein binding						Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)			AGATTCAATGCAGACCTTCTT	0.517													7	80					0	0	1	0	0	T	151125971	C	T	151125971	3	4	81	1	0	0	0	0	1	0	0	0	1114	710	25	2	88	2	ATOX1	5	151125971	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	178564	151125971	29789289	4869	8485											
G3BP1	10146	broad.mit.edu	37	5	151179873	151179873	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:151179873A>G	ENST00000394123.3	+	10	1195	c.1050A>G	c.(1048-1050)gaA>gaG	p.E350E	G3BP1_ENST00000543466.1_Silent_p.E168E|G3BP1_ENST00000356245.3_Silent_p.E350E			Q13283	G3BP1_HUMAN	GTPase activating protein (SH3 domain) binding protein 1	350	RRM.				Ras protein signal transduction|transport	cytosol|nucleus|plasma membrane	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|endonuclease activity|protein binding|RNA binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|skin(3)|urinary_tract(2)	29		all_hematologic(541;0.0338)|Medulloblastoma(196;0.091)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)			TGCCTCATGAAGTGGACAAAT	0.433													6	65					0	0	1	0	0	G	151179873	A	G	151179873	2	3	81	1	0	0	0	0	0	0	0	1	6176	69	3	3		3	G3BP1	5	151179873	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	53902	151179873	29735387	4870	8486											
NMUR2	56923	broad.mit.edu	37	5	151784197	151784197	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:151784197G>A	ENST00000255262.3	-	1	643	c.478C>T	c.(478-480)Cgg>Tgg	p.R160W	NMUR2_ENST00000518933.1_Intron	NM_020167.4	NP_064552.3	Q9GZQ4	NMUR2_HUMAN	neuromedin U receptor 2	160					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|arachidonic acid secretion|calcium ion transport|central nervous system development|elevation of cytosolic calcium ion concentration|regulation of smooth muscle contraction	integral to membrane|plasma membrane	GTP binding|intracellular calcium activated chloride channel activity|neuromedin U receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(12)|liver(1)|lung(15)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	44		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672)			GCCCGGCGCCGGGTGCTCTGC	0.632													18	36					0	0	1	0	0	A	151784197	G	A	151784197	3	1	81	1	0	0	0	0	1	0	0	0	10554	1115	39	1	785	1	NMUR2	5	151784197	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	604324	151784197	29131063	4871	8487											
FAM114A2	10827	broad.mit.edu	37	5	153406011	153406011	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:153406011T>A	ENST00000351797.4	-	8	937	c.861A>T	c.(859-861)aaA>aaT	p.K287N	FAM114A2_ENST00000520313.1_Missense_Mutation_p.K217N|FAM114A2_ENST00000520667.1_Missense_Mutation_p.K287N|FAM114A2_ENST00000522858.1_Missense_Mutation_p.K287N	NM_018691.2	NP_061161.2	Q9NRY5	F1142_HUMAN	family with sequence similarity 114, member A2	287							purine nucleotide binding			NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|skin(1)|urinary_tract(1)	18						AAAATGTTTCTTTGAGTTGCT	0.333													9	14					0	0	1	0	0	A	153406011	T	A	153406011	3	1	81	1	0	0	0	0	1	0	0	0	5435	1606	56	5	684	5	FAM114A2	5	153406011	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	1621814	153406011	27509249	4872	8488											
MFAP3	4238	broad.mit.edu	37	5	153432912	153432912	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:153432912C>A	ENST00000436816.1	+	3	947	c.728C>A	c.(727-729)cCt>cAt	p.P243H	MFAP3_ENST00000322602.5_Missense_Mutation_p.P243H|MFAP3_ENST00000439768.2_Missense_Mutation_p.P97H	NM_001242336.1|NM_005927.4	NP_001229265.1|NP_005918.1	P55082	MFAP3_HUMAN	microfibrillar-associated protein 3	243						integral to membrane|plasma membrane				breast(1)|kidney(2)|large_intestine(1)|lung(2)|pancreas(1)	7	Renal(175;0.00488)	Lung NSC(249;0.00145)|all_lung(500;0.00226)|all_neural(177;0.122)|Breast(839;0.14)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)	OV - Ovarian serous cystadenocarcinoma(192;9.69e-06)|GBM - Glioblastoma multiforme(465;0.0201)		CCTCTTCCACCTCTTATTCTA	0.473													8	70					1.12685e-05	1.27052e-05	1	1	0	A	153432912	C	A	153432912	3	1	81	1	0	0	0	0	1	0	0	0	9565	681	24	4	734	4	MFAP3	5	153432912	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	26901	153432912	27482348	4873	8489											
GALNT10	55568	broad.mit.edu	37	5	153795489	153795489	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:153795489C>T	ENST00000297107.6	+	11	1787	c.1650C>T	c.(1648-1650)cgC>cgT	p.R550R	GALNT10_ENST00000377661.2_Silent_p.R488R|GALNT10_ENST00000377657.3_Silent_p.R223R|SAP30L-AS1_ENST00000524264.1_RNA|SAP30L-AS1_ENST00000519727.1_RNA	NM_198321.3	NP_938080.1	Q86SR1	GLT10_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 10 (GalNAc-T10)	550	Ricin B-type lectin.					Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	32	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21)	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)			GGAAATACCGCAAAGTAAGAT	0.502													4	50					0	0	1	0	0	T	153795489	C	T	153795489	2	4	81	1	0	0	0	0	0	0	0	1	6248	697	25	2		2	GALNT10	5	153795489	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	362577	153795489	27119771	4874	8490											
LARP1	23367	broad.mit.edu	37	5	154172182	154172182	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:154172182C>T	ENST00000336314.4	+	4	358	c.334C>T	c.(334-336)Cca>Tca	p.P112S		NM_015315.3	NP_056130.2	Q6PKG0	LARP1_HUMAN	La ribonucleoprotein domain family, member 1	189							protein binding|RNA binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			CCTGCTATAGCCACAGTCCCA	0.522													38	79					0	0	1	0	0	T	154172182	C	T	154172182	5	4	81	1	0	0	0	0	0	0	1	0	8667	753	26	2	348	2	LARP1	5	154172182	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	376693	154172182	26743078	4875	8491											
CNOT8	9337	broad.mit.edu	37	5	154250245	154250245	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:154250245C>A	ENST00000517876.1	+	5	812	c.336C>A	c.(334-336)tcC>tcA	p.S112S	CNOT8_ENST00000519404.1_Intron|CNOT8_ENST00000523698.1_Silent_p.S6S|CNOT8_ENST00000521450.1_Silent_p.S6S|CNOT8_ENST00000403027.2_Silent_p.S112S|CNOT8_ENST00000285896.6_Silent_p.S112S|CNOT8_ENST00000524105.1_Intron|CNOT8_ENST00000521583.1_Silent_p.S6S|CNOT8_ENST00000520671.1_Silent_p.S6S			Q9UFF9	CNOT8_HUMAN	CCR4-NOT transcription complex, subunit 8	112					negative regulation of cell proliferation|nuclear-transcribed mRNA poly(A) tail shortening	cytosol|nucleus	nucleic acid binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	10	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			CCCAGGATTCCATAGATCTCC	0.423													5	114					3.59834e-05	3.99423e-05	1	1	0	A	154250245	C	A	154250245	2	1	81	1	0	0	0	0	0	0	0	1	3648	581	21	5		5	CNOT8	5	154250245	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	78063	154250245	26665015	4876	8492											
CNOT8	9337	broad.mit.edu	37	5	154250340	154250340	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:154250340G>A	ENST00000517876.1	+	5	907	c.431G>A	c.(430-432)gGa>gAa	p.G144E	CNOT8_ENST00000519404.1_Intron|CNOT8_ENST00000523698.1_Missense_Mutation_p.G38E|CNOT8_ENST00000521450.1_Missense_Mutation_p.G38E|CNOT8_ENST00000403027.2_Missense_Mutation_p.G144E|CNOT8_ENST00000285896.6_Missense_Mutation_p.G144E|CNOT8_ENST00000524105.1_Intron|CNOT8_ENST00000521583.1_Missense_Mutation_p.G38E|CNOT8_ENST00000520671.1_Missense_Mutation_p.G38E			Q9UFF9	CNOT8_HUMAN	CCR4-NOT transcription complex, subunit 8	144					negative regulation of cell proliferation|nuclear-transcribed mRNA poly(A) tail shortening	cytosol|nucleus	nucleic acid binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	10	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			ATGACATCAGGAGTGGTTCTC	0.443													55	92					0	0	1	0	0	A	154250340	G	A	154250340	3	1	81	1	0	0	0	0	1	0	0	0	3648	1174	41	2	441	2	CNOT8	5	154250340	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	95	154250340	26664920	4877	8493											
KIF4B	285643	broad.mit.edu	37	5	154394629	154394629	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:154394629C>T	ENST00000435029.4	+	1	1370	c.1210C>T	c.(1210-1212)Cgt>Tgt	p.R404C		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	404					axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity	p.R404C(2)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			AAAATTAAGTCGTTGTCTGAG	0.453													10	104					0	0	1	0	0	T	154394629	C	T	154394629	3	4	81	1	0	0	0	0	1	0	0	0	8346	884	31	1	1212	1	KIF4B	5	154394629	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	144289	154394629	26520631	4878	8494											
SGCD	6444	broad.mit.edu	37	5	156186309	156186309	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:156186309T>G	ENST00000435422.3	+	8	1265	c.778T>G	c.(778-780)Ttc>Gtc	p.F260V	SGCD_ENST00000337851.4_Missense_Mutation_p.F261V	NM_001128209.1	NP_001121681.1	Q92629	SGCD_HUMAN	sarcoglycan, delta (35kDa dystrophin-associated glycoprotein)	260					cytoskeleton organization|muscle organ development	cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|prostate(1)	24	Renal(175;0.00488)	Medulloblastoma(196;0.0378)|all_neural(177;0.106)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GCAGAAGGTCTTCGAGATCTG	0.483													36	64					0	0	1	0	0	G	156186309	T	G	156186309	3	3	81	1	0	0	0	0	1	0	0	0	14255	1609	56	5	883	5	SGCD	5	156186309	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	1791680	156186309	24728951	4879	8495											
HAVCR1	26762	broad.mit.edu	37	5	156479468	156479468	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:156479468T>G	ENST00000339252.3	-	3	1109	c.577A>C	c.(577-579)Aca>Cca	p.T193P	HAVCR1_ENST00000523175.1_Missense_Mutation_p.T193P|HAVCR1_ENST00000522693.1_Missense_Mutation_p.T193P|HAVCR1_ENST00000425854.1_Missense_Mutation_p.T193P|HAVCR1_ENST00000544197.1_Missense_Mutation_p.T193P	NM_012206.2	NP_036338.2	Q96D42	HAVR1_HUMAN	hepatitis A virus cellular receptor 1	188	11 X 6 AA approximate tandem repeats of V-P-T-T-T-T].|Thr-rich.				interspecies interaction between organisms	integral to membrane	receptor activity			endometrium(3)|large_intestine(2)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			ATGCTCGTTGTCGTTGGAACG	0.468													24	352					0	0	1	0	0	G	156479468	T	G	156479468	3	3	81	1	0	0	0	0	1	0	0	0	7014	1667	58	5	541	5	HAVCR1	5	156479468	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	293159	156479468	24435792	4880	8496											
MED7	9443	broad.mit.edu	37	5	156565837	156565837	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:156565837T>C	ENST00000286317.5	-	2	987	c.606A>G	c.(604-606)gaA>gaG	p.E202E	MED7_ENST00000420343.1_Silent_p.E202E	NM_004270.4	NP_004261.1	O43513	MED7_HUMAN	mediator complex subunit 7	202					regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex|transcription factor complex	protein binding|transcription coactivator activity			kidney(1)|large_intestine(1)|lung(3)|urinary_tract(2)	7	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CTCTTTGATGTTCATTCTGTC	0.383													21	140					0	0	1	0	0	C	156565837	T	C	156565837	2	2	81	1	0	0	0	0	0	0	0	1	9502	1722	60	3		3	MED7	5	156565837	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	86369	156565837	24349423	4881	8497											
FAM71B	153745	broad.mit.edu	37	5	156589936	156589936	+	Missense_Mutation	SNP	C	C	T	rs144873852	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:156589936C>T	ENST00000302938.4	-	2	1435	c.1340G>A	c.(1339-1341)cGc>cAc	p.R447H		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	447						nucleus				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			ACCTGCCTTGCGGTGATGAGA	0.498													67	80					0	0	1	0	0	T	156589936	C	T	156589936	3	4	81	1	0	0	0	0	1	0	0	0	5643	768	27	1	481	1	FAM71B	5	156589936	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	24099	156589936	24325324	4882	8498											
FAM71B	153745	broad.mit.edu	37	5	156589951	156589951	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:156589951T>G	ENST00000302938.4	-	2	1420	c.1325A>C	c.(1324-1326)aAa>aCa	p.K442T		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	442						nucleus				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			ATGAGAACTTTTCCTACTGGG	0.502													5	139					0	0	1	0	0	G	156589951	T	G	156589951	3	3	81	1	0	0	0	0	1	0	0	0	5643	1841	64	5	496	5	FAM71B	5	156589951	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	15	156589951	24325309	4883	8499											
ITK	3702	broad.mit.edu	37	5	156641241	156641241	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:156641241C>A	ENST00000422843.3	+	4	517	c.365C>A	c.(364-366)cCt>cAt	p.P122H	CTB-4E7.1_ENST00000519375.1_RNA	NM_005546.3	NP_005537.3	Q08881	ITK_HUMAN	IL2-inducible T-cell kinase	122					cellular defense response|intracellular signal transduction|T cell receptor signaling pathway	cytosol|plasma membrane	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(25)|ovary(8)|prostate(2)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	70	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.1)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			AAATATCATCCTAATTTCTGG	0.448			T	SYK	peripheral T-cell lymphoma								10	87					2.17888e-05	2.43576e-05	1	1	0	A	156641241	C	A	156641241	3	1	81	1	0	0	0	0	1	0	0	0	7953	681	24	4	379	4	ITK	5	156641241	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	51290	156641241	24274019	4884	8500											
CYFIP2	26999	broad.mit.edu	37	5	156727724	156727724	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:156727724G>A	ENST00000347377.6	+	6	820	c.389G>A	c.(388-390)cGc>cAc	p.R130H	CYFIP2_ENST00000521420.1_Splice_Site_p.R104H|CYFIP2_ENST00000377576.3_Splice_Site_p.R130H|CYFIP2_ENST00000318218.6_Splice_Site_p.R130H|CYFIP2_ENST00000522463.1_Intron|CYFIP2_ENST00000541131.1_Splice_Site_p.R55H|CYFIP2_ENST00000442283.2_5'UTR	NM_001037332.2	NP_001032409.2	Q96F07	CYFP2_HUMAN	cytoplasmic FMR1 interacting protein 2	130					apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding			breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TGCCCCCAGCGCAAGGCCATC	0.642													5	5					0	0	1	0	0	A	156727724	G	A	156727724	5	1	81	1	0	0	0	0	0	0	1	0	4161	1101	38	1	407	1	CYFIP2	5	156727724	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	86483	156727724	24187536	4885	8501											
CYFIP2	26999	broad.mit.edu	37	5	156746812	156746812	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:156746812A>G	ENST00000347377.6	+	14	1830	c.1399A>G	c.(1399-1401)Atg>Gtg	p.M467V	CYFIP2_ENST00000521420.1_Missense_Mutation_p.M441V|CYFIP2_ENST00000377576.3_Missense_Mutation_p.M467V|CYFIP2_ENST00000318218.6_Missense_Mutation_p.M467V|CYFIP2_ENST00000522463.1_Missense_Mutation_p.M271V|CYFIP2_ENST00000541131.1_Missense_Mutation_p.M392V|CYFIP2_ENST00000435847.2_Missense_Mutation_p.M141V|CYFIP2_ENST00000442283.2_5'UTR	NM_001037332.2	NP_001032409.2	Q96F07	CYFP2_HUMAN	cytoplasmic FMR1 interacting protein 2	467					apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding			breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CATGGGCAGGATGGAGAGCGT	0.607													4	58					0	0	1	0	0	G	156746812	A	G	156746812	3	3	81	1	0	0	0	0	1	0	0	0	4161	333	12	3	1449	3	CYFIP2	5	156746812	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	19088	156746812	24168448	4886	8502											
CYFIP2	26999	broad.mit.edu	37	5	156750996	156750996	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:156750996G>T	ENST00000347377.6	+	16	2170	c.1739G>T	c.(1738-1740)aGg>aTg	p.R580M	CYFIP2_ENST00000521420.1_Missense_Mutation_p.R554M|CYFIP2_ENST00000377576.3_Missense_Mutation_p.R580M|CYFIP2_ENST00000318218.6_Missense_Mutation_p.R605M|CYFIP2_ENST00000520960.1_3'UTR|CYFIP2_ENST00000522463.1_Missense_Mutation_p.R384M|CYFIP2_ENST00000541131.1_Missense_Mutation_p.R505M|CYFIP2_ENST00000435847.2_Missense_Mutation_p.R279M|CYFIP2_ENST00000442283.2_5'UTR	NM_001037332.2	NP_001032409.2	Q96F07	CYFP2_HUMAN	cytoplasmic FMR1 interacting protein 2	605					apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding			breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			AAGACCCTGAGGAGCAGCCTG	0.493													6	8					5.18039e-06	5.88187e-06	1	1	0	T	156750996	G	T	156750996	3	4	81	1	0	0	0	0	1	0	0	0	4161	1000	35	4	1797	4	CYFIP2	5	156750996	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	4184	156750996	24164264	4887	8503											
CYFIP2	26999	broad.mit.edu	37	5	156757835	156757835	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:156757835C>T	ENST00000347377.6	+	20	2673	c.2242C>T	c.(2242-2244)Ctg>Ttg	p.L748L	CYFIP2_ENST00000521420.1_Silent_p.L722L|CYFIP2_ENST00000377576.3_Silent_p.L748L|CYFIP2_ENST00000318218.6_Silent_p.L773L|CYFIP2_ENST00000522463.1_Silent_p.L552L|CYFIP2_ENST00000541131.1_Silent_p.L673L|CYFIP2_ENST00000435847.2_Silent_p.L447L|CYFIP2_ENST00000442283.2_Silent_p.L33L	NM_001037332.2	NP_001032409.2	Q96F07	CYFP2_HUMAN	cytoplasmic FMR1 interacting protein 2	773					apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding			breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CTATGAAACACTGCTGAAGCA	0.483													3	35					0	0	1	0	0	T	156757835	C	T	156757835	2	4	81	1	0	0	0	0	0	0	0	1	4161	564	20	2		2	CYFIP2	5	156757835	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	6839	156757835	24157425	4888	8504											
ADAM19	8728	broad.mit.edu	37	5	156915368	156915368	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:156915368G>T	ENST00000257527.4	-	21	2533	c.2455C>A	c.(2455-2457)Cca>Aca	p.P819T	ADAM19_ENST00000517905.1_Missense_Mutation_p.P819T|ADAM19_ENST00000394020.1_Missense_Mutation_p.P821T|ADAM19_ENST00000430702.2_Missense_Mutation_p.P552T	NM_033274.3	NP_150377.1	Q9H013	ADA19_HUMAN	ADAM metallopeptidase domain 19	819					proteolysis	integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CCGGGCCCTGGGGAGTTCCTA	0.647													13	82					5.50884e-06	6.24461e-06	1	1	0	T	156915368	G	T	156915368	3	4	81	1	0	0	0	0	1	0	0	0	239	1232	43	5	313	5	ADAM19	5	156915368	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	157533	156915368	23999892	4889	8505											
ADAM19	8728	broad.mit.edu	37	5	156940493	156940493	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:156940493G>A	ENST00000257527.4	-	8	765	c.687C>T	c.(685-687)gaC>gaT	p.D229D	ADAM19_ENST00000517905.1_Silent_p.D229D|ADAM19_ENST00000394020.1_Silent_p.D231D|ADAM19_ENST00000430702.2_5'UTR	NM_033274.3	NP_150377.1	Q9H013	ADA19_HUMAN	ADAM metallopeptidase domain 19	229	Peptidase M12B.				proteolysis	integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TGGCGTCCTGGTCTCGTCGAT	0.493													30	43					0	0	1	0	0	A	156940493	G	A	156940493	2	1	81	1	0	0	0	0	0	0	0	1	239	1252	44	2		2	ADAM19	5	156940493	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	25125	156940493	23974767	4890	8506											
THG1L	54974	broad.mit.edu	37	5	157159948	157159948	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:157159948G>T	ENST00000231198.7	+	2	508	c.264G>T	c.(262-264)caG>caT	p.Q88H		NM_017872.3	NP_060342.2	Q9NWX6	THG1_HUMAN	tRNA-histidine guanylyltransferase 1-like (S. cerevisiae)	88					protein homotetramerization|tRNA modification	mitochondrion	GTP binding|metal ion binding|tRNA guanylyltransferase activity			NS(1)|central_nervous_system(2)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1)	13	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			AATGTGCGCAGACTGTGATGG	0.453													16	102					1.15088e-07	1.34837e-07	1	1	0	T	157159948	G	T	157159948	3	4	81	1	0	0	0	0	1	0	0	0	15921	933	33	4	270	4	THG1L	5	157159948	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	219455	157159948	23755312	4891	8507											
THG1L	54974	broad.mit.edu	37	5	157161716	157161716	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:157161716G>T	ENST00000231198.7	+	3	745	c.501G>T	c.(499-501)caG>caT	p.Q167H	AC026407.1_ENST00000599823.1_Silent_p.V4V	NM_017872.3	NP_060342.2	Q9NWX6	THG1_HUMAN	tRNA-histidine guanylyltransferase 1-like (S. cerevisiae)	167					protein homotetramerization|tRNA modification	mitochondrion	GTP binding|metal ion binding|tRNA guanylyltransferase activity			NS(1)|central_nervous_system(2)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1)	13	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CCAGCAACCAGACTTTAAAGG	0.478													5	54					0.000602214	0.000646338	1	1	0	T	157161716	G	T	157161716	3	4	81	1	0	0	0	0	1	0	0	0	15921	933	33	4	511	4	THG1L	5	157161716	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1768	157161716	23753544	4892	8508	38	2									
THG1L	54974	broad.mit.edu	37	5	157161725	157161725	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:157161725G>T	ENST00000231198.7	+	3	754	c.510G>T	c.(508-510)aaG>aaT	p.K170N	AC026407.1_ENST00000599823.1_Silent_p.S1S	NM_017872.3	NP_060342.2	Q9NWX6	THG1_HUMAN	tRNA-histidine guanylyltransferase 1-like (S. cerevisiae)	170					protein homotetramerization|tRNA modification	mitochondrion	GTP binding|metal ion binding|tRNA guanylyltransferase activity			NS(1)|central_nervous_system(2)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1)	13	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			AGACTTTAAAGGACTACCTCA	0.468													17	33					0.000422831	0.00045788	1	1	0	T	157161725	G	T	157161725	3	4	81	1	0	0	0	0	1	0	0	0	15921	991	35	4	520	4	THG1L	5	157161725	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	9	157161725	23753535	4893	8509	38	2									
LSM11	134353	broad.mit.edu	37	5	157181872	157181872	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:157181872G>A	ENST00000286307.5	+	4	739	c.683G>A	c.(682-684)cGg>cAg	p.R228Q		NM_173491.2	NP_775762.1	P83369	LSM11_HUMAN	LSM11, U7 small nuclear RNA associated	228					histone mRNA 3'-end processing|S phase of mitotic cell cycle|termination of RNA polymerase II transcription	histone pre-mRNA 3'end processing complex|nucleoplasm|U7 snRNP	protein binding|U7 snRNA binding			breast(1)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)	7	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CTATTTGATCGGCTGAAACTT	0.368													25	34					0	0	1	0	0	A	157181872	G	A	157181872	3	1	81	1	0	0	0	0	1	0	0	0	9097	1116	39	1	697	1	LSM11	5	157181872	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	20147	157181872	23733388	4894	8510											
EBF1	1879	broad.mit.edu	37	5	158158077	158158077	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:158158077C>A	ENST00000313708.6	-	11	1407	c.1125G>T	c.(1123-1125)aaG>aaT	p.K375N	EBF1_ENST00000380654.4_Splice_Site_p.K344N|EBF1_ENST00000518836.1_5'UTR|EBF1_ENST00000517373.1_Splice_Site_p.K367N	NM_024007.3	NP_076870.1	Q9UH73	COE1_HUMAN	early B-cell factor 1	375					multicellular organismal development	nucleus	DNA binding|metal ion binding		HMGA2/EBF1(2)	breast(3)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GTATCCTCACCTTTGGCAAAC	0.443			T	HMGA2	lipoma								4	27					0.014758	0.0152304	1	1	0	A	158158077	C	A	158158077	5	1	81	1	0	0	0	0	0	0	1	0	4906	695	24	4	674	4	EBF1	5	158158077	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	976205	158158077	22757183	4895	8511											
RNF145	153830	broad.mit.edu	37	5	158585820	158585820	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:158585820G>T	ENST00000424310.2	-	11	2209	c.1850C>A	c.(1849-1851)aCt>aAt	p.T617N	RNF145_ENST00000520638.1_Missense_Mutation_p.T631N|RNF145_ENST00000518802.1_Missense_Mutation_p.T647N|RNF145_ENST00000518284.1_5'UTR|RNF145_ENST00000521606.2_Missense_Mutation_p.T634N|RNF145_ENST00000519865.1_Missense_Mutation_p.T617N|RNF145_ENST00000274542.2_Missense_Mutation_p.T645N	NM_001199383.1	NP_001186312.1	Q96MT1	RN145_HUMAN	ring finger protein 145	617						integral to membrane	zinc ion binding			endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GGTCCCTGGAGTATGCTCCTG	0.507													40	57					4.32679e-17	5.57264e-17	1	1	0	T	158585820	G	T	158585820	3	4	81	1	0	0	0	0	1	0	0	0	13499	1029	36	4	145	4	RNF145	5	158585820	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	427743	158585820	22329440	4896	8512											
RNF145	153830	broad.mit.edu	37	5	158596065	158596066	+	Splice_Site	INS	-	-	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:158596065_158596066insA	ENST00000424310.2	-	8	1298		c.e8-2		RNF145_ENST00000274542.2_Splice_Site|RNF145_ENST00000520638.1_Splice_Site|RNF145_ENST00000519865.1_Splice_Site|RNF145_ENST00000518802.1_Splice_Site|RNF145_ENST00000521606.2_Splice_Site	NM_001199383.1	NP_001186312.1	Q96MT1	RN145_HUMAN	ring finger protein 145							integral to membrane	zinc ion binding			endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GTCATGCCCCTAAAAAAAGCAT	0.361													23	92	---	---	---	---						A	158596066	-	A	158596065	8	5	81	1	0	1	1	0	0	0	1	0	13499	1536	53	0	1070	0	RNF145	5	158596065	Splice_Site	INS	-	TCGA-DU-6392-01A-11D-1705-08	10245	158596065	22319195	4897	8513											
RNF145	153830	broad.mit.edu	37	5	158601151	158601151	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:158601151C>T	ENST00000424310.2	-	6	996	c.637G>A	c.(637-639)Ggc>Agc	p.G213S	RNF145_ENST00000520638.1_Missense_Mutation_p.G227S|RNF145_ENST00000518802.1_Missense_Mutation_p.G243S|RNF145_ENST00000521606.2_Missense_Mutation_p.G230S|RNF145_ENST00000519865.1_Missense_Mutation_p.G213S|RNF145_ENST00000274542.2_Missense_Mutation_p.G241S	NM_001199383.1	NP_001186312.1	Q96MT1	RN145_HUMAN	ring finger protein 145	213						integral to membrane	zinc ion binding			endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GCGAGAAGGCCATATACCTCC	0.383													16	26					0	0	1	0	0	T	158601151	C	T	158601151	3	4	81	1	0	0	0	0	1	0	0	0	13499	594	21	2	1378	2	RNF145	5	158601151	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	5086	158601151	22314109	4898	8514											
UBLCP1	134510	broad.mit.edu	37	5	158696048	158696048	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:158696048G>A	ENST00000296786.6	+	2	451	c.125G>A	c.(124-126)cGc>cAc	p.R42H		NM_145049.3	NP_659486.2	Q8WVY7	UBCP1_HUMAN	ubiquitin-like domain containing CTD phosphatase 1	42	Ubiquitin-like.					nucleus	phosphoprotein phosphatase activity			endometrium(1)|kidney(3)|large_intestine(4)|ovary(1)	9	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CTTCCAGAACGCCAAAAGTTA	0.363													29	55					0	0	1	0	0	A	158696048	G	A	158696048	3	1	81	1	0	0	0	0	1	0	0	0	16952	1087	38	1	127	1	UBLCP1	5	158696048	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	94897	158696048	22219212	4899	8515											
IL12B	3593	broad.mit.edu	37	5	158753738	158753738	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:158753738G>T	ENST00000231228.2	-	2	508	c.53C>A	c.(52-54)tCt>tAt	p.S18Y		NM_002187.2	NP_002178.2	P29460	IL12B_HUMAN	interleukin 12B (natural killer cell stimulatory factor 2, cytotoxic lymphocyte maturation factor 2, p40)	18					cell cycle arrest|cell migration|defense response to Gram-negative bacterium|interferon-gamma biosynthetic process|natural killer cell activation|negative regulation of interleukin-10 production|negative regulation of interleukin-17 production|negative regulation of smooth muscle cell proliferation|positive regulation of activated T cell proliferation|positive regulation of activation of JAK2 kinase activity|positive regulation of cell adhesion|positive regulation of defense response to virus by host|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-17 production|positive regulation of memory T cell differentiation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|positive regulation of natural killer cell proliferation|positive regulation of NF-kappaB import into nucleus|positive regulation of NK T cell activation|positive regulation of NK T cell proliferation|positive regulation of osteoclast differentiation|positive regulation of smooth muscle cell apoptosis|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat4 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|regulation of tyrosine phosphorylation of Stat1 protein|response to UV-B|sexual reproduction|T-helper 1 type immune response|T-helper cell differentiation	interleukin-12 complex|interleukin-23 complex|membrane	cytokine activity|cytokine receptor activity|interleukin-12 receptor binding|protein heterodimerization activity			cervix(1)|endometrium(1)|large_intestine(5)|lung(4)	11	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)			CACGAGGGGAGATGCCAGAAA	0.507													17	25					7.41877e-09	8.87549e-09	1	1	0	T	158753738	G	T	158753738	3	4	81	1	0	0	0	0	1	0	0	0	7669	942	33	4	957	4	IL12B	5	158753738	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	57690	158753738	22161522	4900	8516											
ADRA1B	147	broad.mit.edu	37	5	159344282	159344282	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:159344282G>A	ENST00000306675.3	+	1	493	c.370G>A	c.(370-372)Gtg>Atg	p.V124M		NM_000679.3	NP_000670.1	P35368	ADA1B_HUMAN	adrenoceptor alpha 1B	124					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)	CTGGGCAGCCGTGGATGTCCT	0.617													25	33					0	0	1	0	0	A	159344282	G	A	159344282	3	1	81	1	0	0	0	0	1	0	0	0	334	1145	40	1	372	1	ADRA1B	5	159344282	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	590544	159344282	21570978	4901	8517											
PWWP2A	114825	broad.mit.edu	37	5	159545952	159545952	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:159545952G>A	ENST00000456329.3	-	1	478	c.444C>T	c.(442-444)ggC>ggT	p.G148G	PWWP2A_ENST00000523662.1_Silent_p.G148G|PWWP2A_ENST00000307063.7_Silent_p.G148G	NM_052927.2	NP_443159.1	Q96N64	PWP2A_HUMAN	PWWP domain containing 2A	148										kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	5	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)			TGGAGTCCCCGCCCGCCGGCG	0.731													7	5					0	0	1	0	0	A	159545952	G	A	159545952	2	1	81	1	0	0	0	0	0	0	0	1	12897	1074	38	1		1	PWWP2A	5	159545952	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	201670	159545952	21369308	4902	8518											
C5orf54	63920	broad.mit.edu	37	5	159821798	159821798	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:159821798G>T	ENST00000408953.3	-	2	1207	c.700C>A	c.(700-702)Ctt>Att	p.L234I	C5orf54_ENST00000523213.1_Missense_Mutation_p.L234I	NM_022090.3	NP_071373.2	Q8IZ13	CE054_HUMAN	chromosome 5 open reading frame 54	234										breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	12						catacatcaagtgctatctta	0.403													7	95					0.00307968	0.00324365	1	1	0	T	159821798	G	T	159821798	3	4	81	1	0	0	0	0	1	0	0	0	2325	1029	36	4	1088	4	C5orf54	5	159821798	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	275846	159821798	21093462	4903	8519											
C5orf54	63920	broad.mit.edu	37	5	159822439	159822439	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:159822439G>A	ENST00000408953.3	-	2	566	c.59C>T	c.(58-60)aCg>aTg	p.T20M	C5orf54_ENST00000523213.1_Missense_Mutation_p.T20M	NM_022090.3	NP_071373.2	Q8IZ13	CE054_HUMAN	chromosome 5 open reading frame 54	20										breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	12						atctacttccgttgtacaggt	0.433													7	117					0	0	1	0	0	A	159822439	G	A	159822439	3	1	81	1	0	0	0	0	1	0	0	0	2325	1145	40	1	1729	1	C5orf54	5	159822439	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	641	159822439	21092821	4904	8520											
PTTG1	9232	broad.mit.edu	37	5	159849771	159849771	+	Silent	SNP	G	G	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:159849771G>C	ENST00000393964.1	+	2	550	c.147G>C	c.(145-147)acG>acC	p.T49T	PTTG1_ENST00000520452.1_Silent_p.T49T|PTTG1_ENST00000519287.1_3'UTR|PTTG1_ENST00000352433.5_Silent_p.T49T	NM_001282382.1	NP_001269311.1	O95997	PTTG1_HUMAN	pituitary tumor-transforming 1	49					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|chromosome organization|chromosome segregation|DNA repair|mitosis|spermatogenesis|transcription from RNA polymerase II promoter	cytosol|nucleus	cysteine-type endopeptidase inhibitor activity|sequence-specific DNA binding transcription factor activity|SH3 domain binding			breast(1)|large_intestine(1)|lung(4)	6	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	OV - Ovarian serous cystadenocarcinoma(192;0.00219)|Epithelial(171;0.00348)|all cancers(165;0.0104)		TTGGCAAAACGTTCGATGCCC	0.433													44	51					0	0	1	0	0	C	159849771	G	C	159849771	2	2	81	1	0	0	0	0	0	0	0	1	12871	1132	40	5		5	PTTG1	5	159849771	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	27332	159849771	21065489	4905	8521											
ATP10B	23120	broad.mit.edu	37	5	160033805	160033805	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:160033805G>A	ENST00000327245.5	-	19	3973	c.3127C>T	c.(3127-3129)Cga>Tga	p.R1043*		NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	1043					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AACTTGTCTCGCACCAGCTTG	0.522													5	47					0	0	1	0	0	A	160033805	G	A	160033805	4	1	81	1	0	0	0	0	0	1	0	0	1116	1095	38	1	1290	1	ATP10B	5	160033805	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	184034	160033805	20881455	4906	8522											
ATP10B	23120	broad.mit.edu	37	5	160047762	160047762	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:160047762T>C	ENST00000327245.5	-	15	2854	c.2008A>G	c.(2008-2010)Agt>Ggt	p.S670G	CTC-348L5.1_ENST00000523598.1_RNA	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	670					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TCACCTCCACTGCACACAGAT	0.582													6	66					0	0	1	0	0	C	160047762	T	C	160047762	3	2	81	1	0	0	0	0	1	0	0	0	1116	1580	55	3	2425	3	ATP10B	5	160047762	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	13957	160047762	20867498	4907	8523											
ATP10B	23120	broad.mit.edu	37	5	160076222	160076222	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:160076222C>T	ENST00000327245.5	-	8	1563	c.717G>A	c.(715-717)gtG>gtA	p.V239V		NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	239					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GTTTCTCACACACGATGGTAT	0.403													8	66					0	0	1	0	0	T	160076222	C	T	160076222	2	4	81	1	0	0	0	0	0	0	0	1	1116	465	17	2		2	ATP10B	5	160076222	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	28460	160076222	20839038	4908	8524											
GABRB2	2561	broad.mit.edu	37	5	160721284	160721284	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:160721284C>A	ENST00000274547.2	-	11	1560	c.1343G>T	c.(1342-1344)aGg>aTg	p.R448M	GABRB2_ENST00000353437.6_Missense_Mutation_p.R410M|GABRB2_ENST00000393959.1_Missense_Mutation_p.R448M|GABRB2_ENST00000517547.1_Missense_Mutation_p.R250M|GABRB2_ENST00000517901.1_Missense_Mutation_p.R347M|GABRB2_ENST00000520240.1_Missense_Mutation_p.R410M	NM_000813.2|NM_021911.2	NP_000804.1|NP_068711.1	P47870	GBRB2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 2	448					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|GABA-A receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	AAAACTATGCCTGGGCAACCC	0.537													32	30					2.09667e-21	2.74506e-21	1	1	0	A	160721284	C	A	160721284	3	1	81	1	0	0	0	0	1	0	0	0	6202	681	24	4	199	4	GABRB2	5	160721284	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	645062	160721284	20193976	4909	8525											
GABRB2	2561	broad.mit.edu	37	5	160763653	160763653	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:160763653A>G	ENST00000274547.2	-	7	882	c.665T>C	c.(664-666)gTt>gCt	p.V222A	GABRB2_ENST00000353437.6_Missense_Mutation_p.V222A|GABRB2_ENST00000393959.1_Missense_Mutation_p.V222A|GABRB2_ENST00000517547.1_Missense_Mutation_p.V62A|GABRB2_ENST00000517901.1_Missense_Mutation_p.V159A|GABRB2_ENST00000520240.1_Missense_Mutation_p.V222A	NM_000813.2|NM_021911.2	NP_000804.1|NP_068711.1	P47870	GBRB2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 2	222					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|GABA-A receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	GGAAAAAACAACCTTCTTGGT	0.358													33	41					0	0	1	0	0	G	160763653	A	G	160763653	3	3	81	1	0	0	0	0	1	0	0	0	6202	43	2	3	893	3	GABRB2	5	160763653	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	42369	160763653	20151607	4910	8526											
GABRA6	2559	broad.mit.edu	37	5	161119197	161119197	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:161119197G>T	ENST00000523217.1	+	8	1289	c.1047G>T	c.(1045-1047)gaG>gaT	p.E349D	GABRA6_ENST00000274545.5_Missense_Mutation_p.E359D	NM_000811.2	NP_000802.2	Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	359					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TGGAAGCTGAGATTGTTTTGG	0.398										TCGA Ovarian(5;0.080)			31	56					1.30897e-18	1.7005e-18	1	1	0	T	161119197	G	T	161119197	3	4	81	1	0	0	0	0	1	0	0	0	6200	933	33	4	1107	4	GABRA6	5	161119197	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	355544	161119197	19796063	4911	8527											
GABRA1	2554	broad.mit.edu	37	5	161317903	161317903	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:161317903G>A	ENST00000428797.2	+	9	1058		c.e9-1		GABRA1_ENST00000393943.4_Splice_Site|GABRA1_ENST00000444819.1_Splice_Site|GABRA1_ENST00000437025.2_Splice_Site|GABRA1_ENST00000023897.6_Splice_Site|GABRA1_ENST00000420560.1_Splice_Site	NM_001127643.1	NP_001121115.1	P14867	GBRA1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 1						gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425)	TTACTTCTCAGGAGAATATGT	0.363													29	36					0	0	1	0	0	A	161317903	G	A	161317903	5	1	81	1	0	0	0	0	0	0	1	0	6195	1014	35	2	729	2	GABRA1	5	161317903	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	198706	161317903	19597357	4912	8528											
GABRA1	2554	broad.mit.edu	37	5	161322744	161322744	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:161322744C>T	ENST00000428797.2	+	10	1284	c.929C>T	c.(928-930)gCa>gTa	p.A310V	GABRA1_ENST00000393943.4_Missense_Mutation_p.A310V|GABRA1_ENST00000444819.1_Missense_Mutation_p.A310V|GABRA1_ENST00000437025.2_Missense_Mutation_p.A310V|GABRA1_ENST00000023897.6_Missense_Mutation_p.A310V|GABRA1_ENST00000420560.1_Missense_Mutation_p.A310V	NM_001127643.1	NP_001121115.1	P14867	GBRA1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 1	310					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425)	GTGGCTTATGCAACAGCTATG	0.413													40	49					0	0	1	0	0	T	161322744	C	T	161322744	3	4	81	1	0	0	0	0	1	0	0	0	6195	710	25	2	959	2	GABRA1	5	161322744	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	4841	161322744	19592516	4913	8529											
GABRA1	2554	broad.mit.edu	37	5	161324157	161324157	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:161324157C>A	ENST00000428797.2	+	11	1455	c.1100C>A	c.(1099-1101)aCt>aAt	p.T367N	GABRA1_ENST00000393943.4_Missense_Mutation_p.T367N|GABRA1_ENST00000444819.1_Missense_Mutation_p.T367N|GABRA1_ENST00000437025.2_Missense_Mutation_p.T367N|GABRA1_ENST00000023897.6_Missense_Mutation_p.T367N|GABRA1_ENST00000420560.1_Missense_Mutation_p.T367N	NM_001127643.1	NP_001121115.1	P14867	GBRA1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 1	367					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425)	AAAAACAACACTTACGCTCCA	0.418													6	94					0.00198382	0.00209725	1	1	0	A	161324157	C	A	161324157	3	1	81	1	0	0	0	0	1	0	0	0	6195	565	20	4	1134	4	GABRA1	5	161324157	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1413	161324157	19591103	4914	8530											
GABRA1	2554	broad.mit.edu	37	5	161324243	161324243	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:161324243G>A	ENST00000428797.2	+	11	1541	c.1186G>A	c.(1186-1188)Gaa>Aaa	p.E396K	GABRA1_ENST00000393943.4_Missense_Mutation_p.E396K|GABRA1_ENST00000444819.1_Missense_Mutation_p.E396K|GABRA1_ENST00000437025.2_Missense_Mutation_p.E396K|GABRA1_ENST00000023897.6_Missense_Mutation_p.E396K|GABRA1_ENST00000420560.1_Missense_Mutation_p.E396K	NM_001127643.1	NP_001121115.1	P14867	GBRA1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 1	396					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425)	TGCAACCATAGAACCTAAAGA	0.478													41	53					0	0	1	0	0	A	161324243	G	A	161324243	3	1	81	1	0	0	0	0	1	0	0	0	6195	943	33	2	1220	2	GABRA1	5	161324243	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	86	161324243	19591017	4915	8531											
GABRG2	2566	broad.mit.edu	37	5	161569262	161569262	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:161569262G>A	ENST00000356592.3	+	7	1322	c.862G>A	c.(862-864)Gtc>Atc	p.V288I	GABRG2_ENST00000393933.4_Missense_Mutation_p.V193I|GABRG2_ENST00000414552.2_Missense_Mutation_p.V328I|GABRG2_ENST00000361925.4_Missense_Mutation_p.V288I	NM_000816.3|NM_198904.2	NP_000807.2|NP_944494.1	P18507	GBRG2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 2	288					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)		ACTCATTGTCGTCCTATCCTG	0.433													51	91					0	0	1	0	0	A	161569262	G	A	161569262	3	1	81	1	0	0	0	0	1	0	0	0	6207	1145	40	1	1012	1	GABRG2	5	161569262	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	245019	161569262	19345998	4916	8532											
WWC1	23286	broad.mit.edu	37	5	167836972	167836972	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:167836972C>T	ENST00000265293.4	+	8	1415	c.913C>T	c.(913-915)Cgc>Tgc	p.R305C	WWC1_ENST00000521089.1_Missense_Mutation_p.R305C	NM_001161661.1|NM_001161662.1|NM_015238.2	NP_001155133.1|NP_001155134.1|NP_056053.1	Q8IX03	KIBRA_HUMAN	WW and C2 domain containing 1	305					cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|ruffle membrane	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		GGTCAGATTGCGCCTTCGATA	0.483													23	34					0	0	1	0	0	T	167836972	C	T	167836972	3	4	81	1	0	0	0	0	1	0	0	0	17471	768	27	1	943	1	WWC1	5	167836972	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	6267710	167836972	13078288	4917	8533											
WWC1	23286	broad.mit.edu	37	5	167891939	167891939	+	Missense_Mutation	SNP	G	G	A	rs145892564		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:167891939G>A	ENST00000265293.4	+	21	3624	c.3122G>A	c.(3121-3123)cGc>cAc	p.R1041H	WWC1_ENST00000521089.1_Missense_Mutation_p.R1047H|WWC1_ENST00000522140.1_3'UTR	NM_001161661.1|NM_001161662.1|NM_015238.2	NP_001155133.1|NP_001155134.1|NP_056053.1	Q8IX03	KIBRA_HUMAN	WW and C2 domain containing 1	1041	Interaction with histone H3.				cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|ruffle membrane	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		GAGCGTTTCCGCCTGCTGCTG	0.647													16	23					0	0	1	0	0	A	167891939	G	A	167891939	3	1	81	1	0	0	0	0	1	0	0	0	17471	1087	38	1	3222	1	WWC1	5	167891939	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	54967	167891939	13023321	4918	8534											
WWC1	23286	broad.mit.edu	37	5	167894882	167894882	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:167894882C>T	ENST00000265293.4	+	22	3690	c.3188C>T	c.(3187-3189)aCa>aTa	p.T1063I	WWC1_ENST00000521089.1_Missense_Mutation_p.T1069I|WWC1_ENST00000522140.1_3'UTR	NM_001161661.1|NM_001161662.1|NM_015238.2	NP_001155133.1|NP_001155134.1|NP_056053.1	Q8IX03	KIBRA_HUMAN	WW and C2 domain containing 1	1063	Interaction with histone H3.				cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|ruffle membrane	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		GAGCTTCAGACAGACAAGATG	0.587													7	34					0	0	1	0	0	T	167894882	C	T	167894882	3	4	81	1	0	0	0	0	1	0	0	0	17471	478	17	2	3292	2	WWC1	5	167894882	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2943	167894882	13020378	4919	8535											
RARS	5917	broad.mit.edu	37	5	167919797	167919797	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:167919797G>A	ENST00000231572.3	+	3	368	c.314G>A	c.(313-315)aGt>aAt	p.S105N	RARS_ENST00000538719.1_5'UTR	NM_002887.3	NP_002878.2	P54136	SYRC_HUMAN	arginyl-tRNA synthetase	105					arginyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	arginine-tRNA ligase activity|ATP binding|protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|stomach(1)	22	Renal(175;0.000159)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0208)|all_neural(177;0.0227)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0693)|Epithelial(171;0.131)|OV - Ovarian serous cystadenocarcinoma(192;0.156)		GTGACACCAAGTCAGCAGGCC	0.398													8	106					0	0	1	0	0	A	167919797	G	A	167919797	3	1	81	1	0	0	0	0	1	0	0	0	13110	1029	36	2	324	2	RARS	5	167919797	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	24915	167919797	12995463	4920	8536											
SLIT3	6586	broad.mit.edu	37	5	168201248	168201248	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:168201248G>A	ENST00000519560.1	-	13	1706	c.1287C>T	c.(1285-1287)atC>atT	p.I429I	SLIT3_ENST00000404867.3_Silent_p.I429I|SLIT3_ENST00000332966.8_Silent_p.I429I	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	429					apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ACAGTGTCTGGATGGACTGCA	0.557													46	111					0	0	1	0	0	A	168201248	G	A	168201248	2	1	81	1	0	0	0	0	0	0	0	1	14795	1164	41	2		2	SLIT3	5	168201248	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	281451	168201248	12714012	4921	8537											
DOCK2	1794	broad.mit.edu	37	5	169141091	169141091	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:169141091C>T	ENST00000256935.8	+	18	1799	c.1719C>T	c.(1717-1719)caC>caT	p.H573H	DOCK2_ENST00000520908.1_Silent_p.H65H|DOCK2_ENST00000540750.1_5'UTR	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	573	DHR-1.				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CTTATCGACACCATGTGGAAA	0.567													12	35					0	0	1	0	0	T	169141091	C	T	169141091	2	4	81	1	0	0	0	0	0	0	0	1	4714	506	18	2		2	DOCK2	5	169141091	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	939843	169141091	11774169	4922	8538											
FOXI1	2299	broad.mit.edu	37	5	169535395	169535395	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:169535395C>A	ENST00000449804.2	+	2	677	c.632C>A	c.(631-633)cCt>cAt	p.P211H	FOXI1_ENST00000306268.6_Missense_Mutation_p.P306H	NM_012188.4|NM_144769.2	NP_036320.2|NP_658982.1	Q12951	FOXI1_HUMAN	forkhead box I1	306					epidermal cell fate specification|otic placode formation|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding			breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GGACTGAGCCCTGAGCCCAGT	0.617									Pendred syndrome				5	49					0.0381472	0.0389402	1	1	0	A	169535395	C	A	169535395	3	1	81	1	0	0	0	0	1	0	0	0	6043	681	24	4	923	4	FOXI1	5	169535395	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	394304	169535395	11379865	4923	8539											
LCP2	3937	broad.mit.edu	37	5	169689860	169689860	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:169689860C>T	ENST00000046794.5	-	12	1419	c.804G>A	c.(802-804)tcG>tcA	p.S268S	LCP2_ENST00000521416.1_Silent_p.S63S	NM_005565.3	NP_005556.1	Q13094	LCP2_HUMAN	lymphocyte cytosolic protein 2 (SH2 domain containing leukocyte protein of 76kDa)	268					immune response|platelet activation|T cell receptor signaling pathway|transmembrane receptor protein tyrosine kinase signaling pathway	cytosol	protein binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	23	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0109)|all_neural(177;0.0146)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	OV - Ovarian serous cystadenocarcinoma(192;0.247)		CCGCTGGAATCGAGGGCTGCA	0.423													22	41					0	0	1	0	0	T	169689860	C	T	169689860	2	4	81	1	0	0	0	0	0	0	0	1	8731	871	31	1		1	LCP2	5	169689860	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	154465	169689860	11225400	4924	8540											
KCNMB1	3779	broad.mit.edu	37	5	169812421	169812421	+	Missense_Mutation	SNP	G	G	A	rs139716868	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:169812421G>A	ENST00000274629.4	-	2	473	c.31C>T	c.(31-33)Cgg>Tgg	p.R11W	KCNIP1_ENST00000377360.4_Intron|KCNMB1_ENST00000521859.1_Missense_Mutation_p.R11W|KCNIP1_ENST00000518527.1_Intron	NM_004137.3	NP_004128.1	Q16558	KCMB1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, beta member 1	11					platelet activation|synaptic transmission		calcium-activated potassium channel activity|potassium channel regulator activity			endometrium(1)|large_intestine(1)|lung(7)|ovary(2)	11	Renal(175;0.000159)|Lung NSC(126;0.0165)|all_lung(126;0.026)	Medulloblastoma(196;0.0109)|all_neural(177;0.0146)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.175)		GTCTCTCCCCGCTTCTGGGCC	0.542													18	20					0	0	1	0	0	A	169812421	G	A	169812421	3	1	81	1	0	0	0	0	1	0	0	0	8118	1086	38	1	556	1	KCNMB1	5	169812421	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	122561	169812421	11102839	4925	8541											
GABRP	2568	broad.mit.edu	37	5	170239075	170239075	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:170239075A>C	ENST00000518525.1	+	11	1600	c.1136A>C	c.(1135-1137)gAc>gCc	p.D379A	GABRP_ENST00000265294.4_Missense_Mutation_p.D379A|GABRP_ENST00000519385.1_3'UTR			O00591	GBRP_HUMAN	gamma-aminobutyric acid (GABA) A receptor, pi	379						cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor 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)			GACAACGTTGACTACAGTGAC	0.403													33	65					0	0	1	0	0	C	170239075	A	C	170239075	3	2	81	1	0	0	0	0	1	0	0	0	6209	275	10	5	1170	5	GABRP	5	170239075	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	426654	170239075	10676185	4926	8542											
RANBP17	64901	broad.mit.edu	37	5	170395324	170395324	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:170395324G>A	ENST00000523189.1	+	14	1817	c.1653G>A	c.(1651-1653)tgG>tgA	p.W551*		NM_022897.3	NP_075048.1	Q9H2T7	RBP17_HUMAN	RAN binding protein 17	551					mRNA transport|protein import into nucleus|transmembrane transport	cytoplasm|nuclear pore	GTP binding|protein transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	50	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CAATTCTGTGGTTCTTGGATC	0.348			T	TRD@	ALL								37	37					0	0	1	0	0	A	170395324	G	A	170395324	4	1	81	1	0	0	0	0	0	1	0	0	13079	1270	44	2	1707	2	RANBP17	5	170395324	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	156249	170395324	10519936	4927	8543											
NPM1	4869	broad.mit.edu	37	5	170817090	170817090	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:170817090A>G	ENST00000296930.5	+	2	395	c.94A>G	c.(94-96)Aag>Gag	p.K32E	NPM1_ENST00000393820.2_Missense_Mutation_p.K32E|NPM1_ENST00000517671.1_Missense_Mutation_p.K32E|NPM1_ENST00000351986.6_Missense_Mutation_p.K32E	NM_002520.6	NP_002511.1	P06748	NPM_HUMAN	nucleophosmin (nucleolar phosphoprotein B23, numatrin)	32	Necessary for interaction with APEX1.|Required for interaction with SENP3.				anti-apoptosis|cell aging|CenH3-containing nucleosome assembly at centromere|centrosome cycle|DNA repair|interspecies interaction between organisms|intracellular protein transport|negative regulation of cell proliferation|negative regulation of centrosome duplication|nucleocytoplasmic transport|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|regulation of endodeoxyribonuclease activity|regulation of endoribonuclease activity|ribosome assembly|signal transduction	nucleolus|nucleoplasm|ribonucleoprotein complex|spindle pole centrosome	histone binding|NF-kappaB binding|protein binding|protein heterodimerization activity|protein homodimerization activity|ribosomal large subunit binding|ribosomal small subunit binding|RNA binding|Tat protein binding|transcription coactivator activity|unfolded protein binding		NPM1/ALK(632)	central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4261)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	4269	Renal(175;0.000159)|Lung NSC(126;0.00576)|all_lung(126;0.00963)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TTATCACTTTAAGGTGGATAA	0.328			"T, F "	"ALK, RARA, MLF1"	"NHL, APL, AML"								17	22					0	0	1	0	0	G	170817090	A	G	170817090	3	3	81	1	0	0	0	0	1	0	0	0	10635	363	13	3	100	3	NPM1	5	170817090	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	421766	170817090	10098170	4928	8544											
NPM1	4869	broad.mit.edu	37	5	170827849	170827849	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:170827849C>T	ENST00000296930.5	+	8	890	c.589C>T	c.(589-591)Cga>Tga	p.R197*	NPM1_ENST00000393820.2_Nonsense_Mutation_p.R197*|NPM1_ENST00000517671.1_Nonsense_Mutation_p.R197*|NPM1_ENST00000351986.6_Intron	NM_002520.6	NP_002511.1	P06748	NPM_HUMAN	nucleophosmin (nucleolar phosphoprotein B23, numatrin)	197					anti-apoptosis|cell aging|CenH3-containing nucleosome assembly at centromere|centrosome cycle|DNA repair|interspecies interaction between organisms|intracellular protein transport|negative regulation of cell proliferation|negative regulation of centrosome duplication|nucleocytoplasmic transport|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|regulation of endodeoxyribonuclease activity|regulation of endoribonuclease activity|ribosome assembly|signal transduction	nucleolus|nucleoplasm|ribonucleoprotein complex|spindle pole centrosome	histone binding|NF-kappaB binding|protein binding|protein heterodimerization activity|protein homodimerization activity|ribosomal large subunit binding|ribosomal small subunit binding|RNA binding|Tat protein binding|transcription coactivator activity|unfolded protein binding		NPM1/ALK(632)	central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4261)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	4269	Renal(175;0.000159)|Lung NSC(126;0.00576)|all_lung(126;0.00963)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GCAGTCTATACGAGATACTCC	0.398			"T, F "	"ALK, RARA, MLF1"	"NHL, APL, AML"								7	31					0	0	1	0	0	T	170827849	C	T	170827849	4	4	81	1	0	0	0	0	0	1	0	0	10635	528	19	1	619	1	NPM1	5	170827849	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	10759	170827849	10087411	4929	8545											
FBXW11	23291	broad.mit.edu	37	5	171303505	171303505	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:171303505G>A	ENST00000296933.6	-	8	1273	c.903C>T	c.(901-903)aaC>aaT	p.N301N	FBXW11_ENST00000522891.1_5'UTR|FBXW11_ENST00000265094.5_Silent_p.N314N|FBXW11_ENST00000425623.2_Silent_p.N282N|FBXW11_ENST00000393802.2_Silent_p.N280N	NM_033644.2|NM_033645.2	NP_387448.2|NP_387449.2	Q9UKB1	FBW1B_HUMAN	F-box and WD repeat domain containing 11	314					cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of circadian rhythm|positive regulation of proteolysis|positive regulation of transcription, DNA-dependent|protein dephosphorylation|protein destabilization|protein polyubiquitination|rhythmic process|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	centrosome|cytosol|nucleus|SCF ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(2)|urinary_tract(2)	21	Renal(175;0.000159)|Lung NSC(126;0.00384)|all_lung(126;0.00659)	Medulloblastoma(196;0.00853)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GGATCAATGTGTTAAGAACTT	0.468													26	31					0	0	1	0	0	A	171303505	G	A	171303505	2	1	81	1	0	0	0	0	0	0	0	1	5797	1368	48	2		2	FBXW11	5	171303505	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	475656	171303505	9611755	4930	8546											
SH3PXD2B	285590	broad.mit.edu	37	5	171765664	171765664	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:171765664C>A	ENST00000311601.5	-	13	2615	c.2445G>T	c.(2443-2445)caG>caT	p.Q815H	SH3PXD2B_ENST00000519643.1_Intron	NM_001017995.2	NP_001017995.1	A1X283	SPD2B_HUMAN	SH3 and PX domains 2B	815					adipose tissue development|bone development|cell communication|cell differentiation|eye development|heart development|podosome assembly	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-5-phosphate binding|SH2 domain binding			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0207)|all_neural(177;0.0625)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GCGTGTCATCCTGGCCCCCCA	0.612													3	23					0.004672	0.00489345	1	1	0	A	171765664	C	A	171765664	3	1	81	1	0	0	0	0	1	0	0	0	14312	680	24	4	294	4	SH3PXD2B	5	171765664	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	462159	171765664	9149596	4931	8547											
SH3PXD2B	285590	broad.mit.edu	37	5	171809059	171809059	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:171809059C>T	ENST00000311601.5	-	5	552	c.382G>A	c.(382-384)Gac>Aac	p.D128N	SH3PXD2B_ENST00000519643.1_Missense_Mutation_p.D128N	NM_001017995.2	NP_001017995.1	A1X283	SPD2B_HUMAN	SH3 and PX domains 2B	128	PX.				adipose tissue development|bone development|cell communication|cell differentiation|eye development|heart development|podosome assembly	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-5-phosphate binding|SH2 domain binding			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0207)|all_neural(177;0.0625)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GGATTCAGGTCCTCAGGTCTT	0.567													5	10					0	0	1	0	0	T	171809059	C	T	171809059	3	4	81	1	0	0	0	0	1	0	0	0	14312	855	30	2	2389	2	SH3PXD2B	5	171809059	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	43395	171809059	9106201	4932	8548											
ERGIC1	57222	broad.mit.edu	37	5	172324045	172324045	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:172324045C>T	ENST00000393784.3	+	3	262	c.123C>T	c.(121-123)ctC>ctT	p.L41L	ERGIC1_ENST00000523291.1_Silent_p.L41L|ERGIC1_ENST00000519860.1_3'UTR	NM_001031711.2	NP_001026881.1	Q969X5	ERGI1_HUMAN	endoplasmic reticulum-golgi intermediate compartment (ERGIC) 1	41					ER to Golgi vesicle-mediated transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane	protein binding			endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(2)	9	Renal(175;0.000159)|Lung NSC(126;0.00344)|all_lung(126;0.00594)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TCCTCTTCCTCTCGGAGCTCA	0.517													9	57					0	0	1	0	0	T	172324045	C	T	172324045	2	4	81	1	0	0	0	0	0	0	0	1	5251	900	32	2		2	ERGIC1	5	172324045	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	514986	172324045	8591215	4933	8549											
RPL26L1	51121	broad.mit.edu	37	5	172387010	172387010	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:172387010G>A	ENST00000521476.1	+	2	258	c.134G>A	c.(133-135)cGc>cAc	p.R45H	RPL26L1_ENST00000519974.1_Missense_Mutation_p.R45H|RPL26L1_ENST00000265100.2_Missense_Mutation_p.R45H|RPL26L1_ENST00000519239.1_Missense_Mutation_p.R45H			Q9UNX3	RL26L_HUMAN	ribosomal protein L26-like 1	45					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|large ribosomal subunit	structural constituent of ribosome			breast(1)|endometrium(1)|kidney(1)|lung(2)|prostate(1)|urinary_tract(1)	7	Renal(175;0.000159)|Lung NSC(126;0.00344)|all_lung(126;0.00594)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TACAATGTCCGCTCCATGCCC	0.592													5	69					0	0	1	0	0	A	172387010	G	A	172387010	3	1	81	1	0	0	0	0	1	0	0	0	13626	1087	38	1	136	1	RPL26L1	5	172387010	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	62965	172387010	8528250	4934	8550											
CPEB4	80315	broad.mit.edu	37	5	173316959	173316959	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:173316959T>G	ENST00000265085.5	+	1	1677	c.223T>G	c.(223-225)Ttg>Gtg	p.L75V	CPEB4_ENST00000520867.1_Missense_Mutation_p.L75V|CPEB4_ENST00000519835.1_Missense_Mutation_p.L75V|CPEB4_ENST00000334035.5_Missense_Mutation_p.L75V	NM_030627.2	NP_085130.2	Q17RY0	CPEB4_HUMAN	cytoplasmic polyadenylation element binding protein 4	75							nucleotide binding|RNA binding			NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	20	Renal(175;0.000159)|Lung NSC(126;0.0128)|all_lung(126;0.0202)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			GGATGAGATCTTGGGGTCAGA	0.478													16	142					0	0	1	0	0	G	173316959	T	G	173316959	3	3	81	1	0	0	0	0	1	0	0	0	3826	1606	56	5	225	5	CPEB4	5	173316959	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	929949	173316959	7598301	4935	8551											
CPEB4	80315	broad.mit.edu	37	5	173378897	173378897	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:173378897G>A	ENST00000265085.5	+	8	3190	c.1736G>A	c.(1735-1737)cGa>cAa	p.R579Q	CPEB4_ENST00000517880.1_Missense_Mutation_p.R172Q|CPEB4_ENST00000519467.1_3'UTR|CPEB4_ENST00000522336.1_Missense_Mutation_p.R189Q|CPEB4_ENST00000520867.1_Missense_Mutation_p.R554Q|CPEB4_ENST00000519835.1_Missense_Mutation_p.R554Q|CPEB4_ENST00000334035.5_Missense_Mutation_p.R562Q	NM_030627.2	NP_085130.2	Q17RY0	CPEB4_HUMAN	cytoplasmic polyadenylation element binding protein 4	579							nucleotide binding|RNA binding			NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	20	Renal(175;0.000159)|Lung NSC(126;0.0128)|all_lung(126;0.0202)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			CTTGACCCACGAAAAACTATA	0.428													11	25					0	0	1	0	0	A	173378897	G	A	173378897	3	1	81	1	0	0	0	0	1	0	0	0	3826	1058	37	1	1766	1	CPEB4	5	173378897	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	61938	173378897	7536363	4936	8552											
CPEB4	80315	broad.mit.edu	37	5	173380103	173380103	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:173380103C>T	ENST00000265085.5	+	9	3244	c.1790C>T	c.(1789-1791)gCg>gTg	p.A597V	CPEB4_ENST00000517880.1_Missense_Mutation_p.A190V|CPEB4_ENST00000519467.1_3'UTR|CPEB4_ENST00000522336.1_Missense_Mutation_p.A207V|CPEB4_ENST00000520867.1_Missense_Mutation_p.A572V|CPEB4_ENST00000519835.1_Missense_Mutation_p.A572V|CPEB4_ENST00000334035.5_Missense_Mutation_p.A580V	NM_030627.2	NP_085130.2	Q17RY0	CPEB4_HUMAN	cytoplasmic polyadenylation element binding protein 4	597	RRM 2.						nucleotide binding|RNA binding			NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	20	Renal(175;0.000159)|Lung NSC(126;0.0128)|all_lung(126;0.0202)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			GTGGAGCTTGCGATGATAATG	0.433													20	141					0	0	1	0	0	T	173380103	C	T	173380103	3	4	81	1	0	0	0	0	1	0	0	0	3826	768	27	1	1824	1	CPEB4	5	173380103	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1206	173380103	7535157	4937	8553											
SFXN1	94081	broad.mit.edu	37	5	174919203	174919203	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:174919203G>A	ENST00000321442.5	+	2	351	c.97G>A	c.(97-99)Gac>Aac	p.D33N	SFXN1_ENST00000502393.1_Missense_Mutation_p.D33N	NM_022754.5	NP_073591.2	Q9H9B4	SFXN1_HUMAN	sideroflexin 1	33					iron ion homeostasis	integral to membrane	cation transmembrane transporter activity|protein binding			endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|skin(3)	15	all_cancers(89;0.00922)|Renal(175;0.000269)|Lung NSC(126;0.00515)|all_lung(126;0.00873)	Medulloblastoma(196;0.0399)|all_neural(177;0.0663)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			CACTGTAACTGACCCCAGGAA	0.388													6	48					0	0	1	0	0	A	174919203	G	A	174919203	3	1	81	1	0	0	0	0	1	0	0	0	14248	1290	45	2	99	2	SFXN1	5	174919203	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1539100	174919203	5996057	4938	8554											
HRH2	3274	broad.mit.edu	37	5	175111286	175111286	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:175111286C>T	ENST00000231683.2	+	1	2823	c.1050C>T	c.(1048-1050)gtC>gtT	p.V350V	HRH2_ENST00000377291.2_Silent_p.V350V	NM_022304.2	NP_071640.1	P25021	HRH2_HUMAN	histamine receptor H2	350					G-protein signaling, coupled to cyclic nucleotide second messenger|immune response	integral to plasma membrane	histamine receptor activity			breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(10)|ovary(1)	22	all_cancers(89;0.00805)|Renal(175;0.000269)|Lung NSC(126;0.00419)|all_lung(126;0.00711)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Colorectal(1;0.0154)|COAD - Colon adenocarcinoma(1;0.149)	Betazole(DB00272)|Cimetidine(DB00501)|Doxepin(DB01142)|Epinastine(DB00751)|Famotidine(DB00927)|Histamine Phosphate(DB00667)|Nizatidine(DB00585)|Ranitidine(DB00863)	GGACAGAAGTCACGGCCCCCC	0.582													37	62					0	0	1	0	0	T	175111286	C	T	175111286	2	4	81	1	0	0	0	0	0	0	0	1	7397	813	29	2		2	HRH2	5	175111286	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	192083	175111286	5803974	4939	8555											
KIAA1191	57179	broad.mit.edu	37	5	175775000	175775000	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:175775000T>C	ENST00000298569.4	-	8	1166	c.633A>G	c.(631-633)ggA>ggG	p.G211G	KIAA1191_ENST00000533553.1_3'UTR|KIAA1191_ENST00000393728.2_5'UTR|RP11-843P14.2_ENST00000508187.1_RNA|KIAA1191_ENST00000510164.1_Silent_p.G211G|KIAA1191_ENST00000393725.2_Silent_p.G192G	NM_020444.3	NP_065177.2	Q96A73	K1191_HUMAN	KIAA1191	211							protein binding			endometrium(1)|kidney(1)|lung(2)|ovary(1)|skin(1)	6	all_cancers(89;0.00575)|Renal(175;0.000269)|Lung NSC(126;0.0105)|all_lung(126;0.0168)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Kidney(146;0.101)		TATCCCCACTTCCAGAGTCCA	0.463													6	88					0	0	1	0	0	C	175775000	T	C	175775000	2	2	81	1	0	0	0	0	0	0	0	1	8254	1770	62	3		3	KIAA1191	5	175775000	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	663714	175775000	5140260	4940	8556											
ARL10	285598	broad.mit.edu	37	5	175793446	175793446	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:175793446C>T	ENST00000310389.5	+	2	343	c.247C>T	c.(247-249)Ctg>Ttg	p.L83L		NM_173664.4	NP_775935.1	Q8N8L6	ARL10_HUMAN	ADP-ribosylation factor-like 10	83							GTP binding			endometrium(2)|lung(1)|ovary(1)	4	all_cancers(89;0.0064)|Renal(175;0.000269)|Lung NSC(126;0.0105)|all_lung(126;0.0168)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Kidney(146;0.0965)		GGTGCTGGTGCTGGGGCTGGA	0.697													6	12					0	0	1	0	0	T	175793446	C	T	175793446	2	4	81	1	0	0	0	0	0	0	0	1	923	796	28	2		2	ARL10	5	175793446	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	18446	175793446	5121814	4941	8557											
ARL10	285598	broad.mit.edu	37	5	175793460	175793460	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:175793460C>T	ENST00000310389.5	+	2	357	c.261C>T	c.(259-261)ggC>ggT	p.G87G		NM_173664.4	NP_775935.1	Q8N8L6	ARL10_HUMAN	ADP-ribosylation factor-like 10	87							GTP binding			endometrium(2)|lung(1)|ovary(1)	4	all_cancers(89;0.0064)|Renal(175;0.000269)|Lung NSC(126;0.0105)|all_lung(126;0.0168)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Kidney(146;0.0965)		GGCTGGATGGCGCAGGCAAGA	0.682													9	12					0	0	1	0	0	T	175793460	C	T	175793460	2	4	81	1	0	0	0	0	0	0	0	1	923	755	27	1		1	ARL10	5	175793460	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	14	175793460	5121800	4942	8558											
NOP16	51491	broad.mit.edu	37	5	175815519	175815519	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:175815519T>C	ENST00000389158.5	-	1	457	c.22A>G	c.(22-24)Acc>Gcc	p.T8A	NOP16_ENST00000509257.1_Missense_Mutation_p.T8A|NOP16_ENST00000510123.1_Missense_Mutation_p.T8A|NOP16_ENST00000507413.1_Missense_Mutation_p.T8A			Q9Y3C1	NOP16_HUMAN	NOP16 nucleolar protein	8						nucleolus				central_nervous_system(1)|endometrium(2)|lung(4)|ovary(1)	8						TGCCTCCGGGTTTTGCCCTTG	0.602													9	62					0	0	1	0	0	C	175815519	T	C	175815519	3	2	81	1	0	0	0	0	1	0	0	0	10584	1725	60	3	533	3	NOP16	5	175815519	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	22059	175815519	5099741	4943	8559											
FAF2	23197	broad.mit.edu	37	5	175913417	175913417	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:175913417C>A	ENST00000261942.6	+	3	247	c.194C>A	c.(193-195)cCa>cAa	p.P65Q	FAF2_ENST00000510446.1_3'UTR	NM_014613.2	NP_055428.1	Q96CS3	FAF2_HUMAN	Fas associated factor family member 2	65					response to unfolded protein	endoplasmic reticulum|lipid particle	protein binding			breast(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	10						AACCCACCTCCATCACGACCC	0.493													26	48					1.66031e-10	2.03454e-10	1	1	0	A	175913417	C	A	175913417	3	1	81	1	0	0	0	0	1	0	0	0	5401	594	21	5	204	5	FAF2	5	175913417	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	97898	175913417	5001843	4944	8560											
RNF44	22838	broad.mit.edu	37	5	175956561	175956561	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:175956561G>A	ENST00000274811.4	-	9	1623	c.1099C>T	c.(1099-1101)Cgc>Tgc	p.R367C	RNF44_ENST00000537487.1_Missense_Mutation_p.R286C	NM_014901.4	NP_055716.1	Q7L0R7	RNF44_HUMAN	ring finger protein 44	367							zinc ion binding			endometrium(2)|lung(3)|prostate(1)|skin(1)|stomach(1)	8	all_cancers(89;0.0029)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGGTTAAAGCGGTACGACGGG	0.657													14	42					0	0	1	0	0	A	175956561	G	A	175956561	3	1	81	1	0	0	0	0	1	0	0	0	13548	1116	39	1	211	1	RNF44	5	175956561	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	43144	175956561	4958699	4945	8561											
CDHR2	54825	broad.mit.edu	37	5	176003072	176003072	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:176003072C>A	ENST00000510636.1	+	12	1354	c.1080C>A	c.(1078-1080)gcC>gcA	p.A360A	CDHR2_ENST00000261944.5_Silent_p.A360A|CDHR2_ENST00000506348.1_Silent_p.A360A	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	360					homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						GCCTCCCAGCCTGCACCTTCA	0.577													5	29					0.184627	0.18622	1	1	0	A	176003072	C	A	176003072	2	1	81	1	0	0	0	0	0	0	0	1	3141	668	24	4		4	CDHR2	5	176003072	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	46511	176003072	4912188	4946	8562											
CDHR2	54825	broad.mit.edu	37	5	176005051	176005051	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:176005051C>T	ENST00000510636.1	+	15	1803	c.1529C>T	c.(1528-1530)aCg>aTg	p.T510M	CDHR2_ENST00000261944.5_Missense_Mutation_p.T510M|CDHR2_ENST00000506348.1_Missense_Mutation_p.T510M	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	510	Cadherin 5.				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						GACCCAGACACGGGCGCGTGG	0.667													3	20					0	0	1	0	0	T	176005051	C	T	176005051	3	4	81	1	0	0	0	0	1	0	0	0	3141	536	19	1	1583	1	CDHR2	5	176005051	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1979	176005051	4910209	4947	8563											
CDHR2	54825	broad.mit.edu	37	5	176011502	176011502	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:176011502C>A	ENST00000510636.1	+	19	2494	c.2220C>A	c.(2218-2220)aaC>aaA	p.N740K	CDHR2_ENST00000261944.5_Missense_Mutation_p.N740K|CDHR2_ENST00000506348.1_Missense_Mutation_p.N740K	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	740	Cadherin 7.				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						GTGGTGCCAACTACTTCATGA	0.642													36	68					5.59293e-11	6.89508e-11	1	1	0	A	176011502	C	A	176011502	3	1	81	1	0	0	0	0	1	0	0	0	3141	564	20	4	2290	4	CDHR2	5	176011502	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	6451	176011502	4903758	4948	8564											
CDHR2	54825	broad.mit.edu	37	5	176011940	176011940	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:176011940C>A	ENST00000510636.1	+	19	2932	c.2658C>A	c.(2656-2658)gcC>gcA	p.A886A	CDHR2_ENST00000261944.5_Silent_p.A886A|CDHR2_ENST00000506348.1_Silent_p.A886A	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	886	Cadherin 8.				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						ACTACGAGGCCTGTGACCTGG	0.627													5	4					0.0215528	0.0221217	1	1	0	A	176011940	C	A	176011940	2	1	81	1	0	0	0	0	0	0	0	1	3141	668	24	4		4	CDHR2	5	176011940	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	438	176011940	4903320	4949	8565											
CDHR2	54825	broad.mit.edu	37	5	176016106	176016106	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:176016106C>T	ENST00000510636.1	+	22	3205	c.2931C>T	c.(2929-2931)gaC>gaT	p.D977D	CDHR2_ENST00000261944.5_Silent_p.D977D|CDHR2_ENST00000506348.1_Silent_p.D977D	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	977	Cadherin 9.				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						TCTCTAAGGACGGGGCCACCA	0.577													84	146					0	0	1	0	0	T	176016106	C	T	176016106	2	4	81	1	0	0	0	0	0	0	0	1	3141	535	19	1		1	CDHR2	5	176016106	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	4166	176016106	4899154	4950	8566											
CDHR2	54825	broad.mit.edu	37	5	176017138	176017138	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:176017138C>A	ENST00000510636.1	+	25	3540	c.3266C>A	c.(3265-3267)tCt>tAt	p.S1089Y	CDHR2_ENST00000261944.5_Missense_Mutation_p.S1089Y|CDHR2_ENST00000506348.1_Missense_Mutation_p.S1089Y	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	1089					homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						GACATAGATTCTGCAGCTCGG	0.582													122	160					6.25825e-54	8.42931e-54	1	1	0	A	176017138	C	A	176017138	3	1	81	1	0	0	0	0	1	0	0	0	3141	913	32	4	3360	4	CDHR2	5	176017138	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1032	176017138	4898122	4951	8567											
GPRIN1	114787	broad.mit.edu	37	5	176025059	176025059	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:176025059C>T	ENST00000303991.4	-	2	1954	c.1777G>A	c.(1777-1779)Gtg>Atg	p.V593M		NM_052899.2	NP_443131.2	Q7Z2K8	GRIN1_HUMAN	G protein regulated inducer of neurite outgrowth 1	593						growth cone|plasma membrane				NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(89;0.00263)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCCAGGGACACGGGATCCACC	0.572													32	46					0	0	1	0	0	T	176025059	C	T	176025059	3	4	81	1	0	0	0	0	1	0	0	0	6770	536	19	1	1253	1	GPRIN1	5	176025059	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	7921	176025059	4890201	4952	8568											
GPRIN1	114787	broad.mit.edu	37	5	176025661	176025661	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:176025661G>A	ENST00000303991.4	-	2	1352	c.1175C>T	c.(1174-1176)aCg>aTg	p.T392M		NM_052899.2	NP_443131.2	Q7Z2K8	GRIN1_HUMAN	G protein regulated inducer of neurite outgrowth 1	392						growth cone|plasma membrane				NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(89;0.00263)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CGTAGTATCCGTGTGGCCAGA	0.522													6	49					0	0	1	0	0	A	176025661	G	A	176025661	3	1	81	1	0	0	0	0	1	0	0	0	6770	1145	40	1	1855	1	GPRIN1	5	176025661	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	602	176025661	4889599	4953	8569											
GPRIN1	114787	broad.mit.edu	37	5	176026572	176026572	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:176026572T>C	ENST00000303991.4	-	2	441	c.264A>G	c.(262-264)agA>agG	p.R88R		NM_052899.2	NP_443131.2	Q7Z2K8	GRIN1_HUMAN	G protein regulated inducer of neurite outgrowth 1	88						growth cone|plasma membrane				NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(89;0.00263)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCAGGCTCCCTCTGGGGCCGT	0.657													5	55					0	0	1	0	0	C	176026572	T	C	176026572	2	2	81	1	0	0	0	0	0	0	0	1	6770	1548	54	3		3	GPRIN1	5	176026572	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	911	176026572	4888688	4954	8570											
TSPAN17	26262	broad.mit.edu	37	5	176078862	176078862	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:176078862C>T	ENST00000405525.2	+	3	475	c.246C>T	c.(244-246)tgC>tgT	p.C82C	TSPAN17_ENST00000508164.1_Silent_p.C82C|TSPAN17_ENST00000515708.1_Silent_p.C82C|TSPAN17_ENST00000298564.10_Intron|TSPAN17_ENST00000310032.8_Silent_p.C82C|TSPAN17_ENST00000503045.1_Silent_p.C82C	NM_001006616.2	NP_001006617.2	Q96FV3	TSN17_HUMAN	tetraspanin 17	82						integral to membrane|ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|urinary_tract(1)	13	all_cancers(89;0.00141)|Renal(175;0.000269)|Lung NSC(126;0.00814)|all_lung(126;0.0133)	Medulloblastoma(196;0.00498)|all_neural(177;0.0212)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TTGCTGGCTGCATTGGGGCCC	0.582													30	50					0	0	1	0	0	T	176078862	C	T	176078862	2	4	81	1	0	0	0	0	0	0	0	1	16702	718	25	2		2	TSPAN17	5	176078862	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	52290	176078862	4836398	4955	8571											
TSPAN17	26262	broad.mit.edu	37	5	176084557	176084557	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:176084557C>T	ENST00000310032.8	+	9	1086	c.857C>T	c.(856-858)aCg>aTg	p.T286M	TSPAN17_ENST00000405525.2_3'UTR|TSPAN17_ENST00000508164.1_Missense_Mutation_p.T283M|TSPAN17_ENST00000515708.1_3'UTR|TSPAN17_ENST00000298564.10_3'UTR|TSPAN17_ENST00000503045.1_Missense_Mutation_p.T263M	NM_012171.2|NM_130465.4	NP_036303.1|NP_569732.2	Q96FV3	TSN17_HUMAN	tetraspanin 17	130						integral to membrane|ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|urinary_tract(1)	13	all_cancers(89;0.00141)|Renal(175;0.000269)|Lung NSC(126;0.00814)|all_lung(126;0.0133)	Medulloblastoma(196;0.00498)|all_neural(177;0.0212)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CACTGGCTTACGCCCACCATT	0.562													6	16					0	0	1	0	0	T	176084557	C	T	176084557	3	4	81	1	0	0	0	0	1	0	0	0	16702	536	19	1	891	1	TSPAN17	5	176084557	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	5695	176084557	4830703	4956	8572											
TSPAN17	26262	broad.mit.edu	37	5	176084699	176084699	+	Nonstop_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:176084699G>T	ENST00000310032.8	+	9	1228	c.999G>T	c.(997-999)taG>taT	p.*333Y	TSPAN17_ENST00000405525.2_3'UTR|TSPAN17_ENST00000508164.1_Nonstop_Mutation_p.*330Y|TSPAN17_ENST00000515708.1_3'UTR|TSPAN17_ENST00000298564.10_3'UTR|TSPAN17_ENST00000503045.1_Nonstop_Mutation_p.*310Y	NM_012171.2|NM_130465.4	NP_036303.1|NP_569732.2	Q96FV3	TSN17_HUMAN	tetraspanin 17	0						integral to membrane|ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|urinary_tract(1)	13	all_cancers(89;0.00141)|Renal(175;0.000269)|Lung NSC(126;0.00814)|all_lung(126;0.0133)	Medulloblastoma(196;0.00498)|all_neural(177;0.0212)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			aaaattggtagatttcacata	0.542													18	35					3.51602e-12	4.38715e-12	1	1	0	T	176084699	G	T	176084699	4	4	81	1	0	0	0	0	0	0	0	0	16702	937	33	4	1033	4	TSPAN17	5	176084699	Nonstop_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	142	176084699	4830561	4957	8573											
UNC5A	90249	broad.mit.edu	37	5	176297468	176297468	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:176297468C>T	ENST00000329542.4	+	6	1093	c.819C>T	c.(817-819)aaC>aaT	p.N273N	UNC5A_ENST00000261961.3_Silent_p.N233N	NM_133369.2	NP_588610.2	Q6ZN44	UNC5A_HUMAN	unc-5 homolog A (C. elegans)	273	TSP type-1.				apoptosis|axon guidance|regulation of apoptosis	integral to membrane|plasma membrane				endometrium(4)|kidney(3)|large_intestine(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	34	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CACCCCGCAACGGAGGGGAGG	0.642													4	58					0	0	1	0	0	T	176297468	C	T	176297468	2	4	81	1	0	0	0	0	0	0	0	1	17051	535	19	1		1	UNC5A	5	176297468	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	212769	176297468	4617792	4958	8574											
HK3	3101	broad.mit.edu	37	5	176308174	176308174	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:176308174C>T	ENST00000292432.5	-	19	2763	c.2672G>A	c.(2671-2673)cGc>cAc	p.R891H		NM_002115.2	NP_002106.2	P52790	HXK3_HUMAN	hexokinase 3 (white cell)	891	Catalytic.				glucose transport|glycolysis|transmembrane transport	cytosol|membrane	ATP binding|glucokinase activity			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GACCACACAGCGAGGGGCCAG	0.672													4	22					0	0	1	0	0	T	176308174	C	T	176308174	3	4	81	1	0	0	0	0	1	0	0	0	7233	768	27	1	103	1	HK3	5	176308174	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	10706	176308174	4607086	4959	8575											
FGFR4	2264	broad.mit.edu	37	5	176517466	176517466	+	Missense_Mutation	SNP	G	G	A	rs150191035		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:176517466G>A	ENST00000292408.4	+	3	412	c.167G>A	c.(166-168)tGc>tAc	p.C56Y	FGFR4_ENST00000393637.1_Missense_Mutation_p.C56Y|FGFR4_ENST00000502906.1_Missense_Mutation_p.C56Y|FGFR4_ENST00000507708.1_3'UTR|FGFR4_ENST00000393648.2_Missense_Mutation_p.C56Y|FGFR4_ENST00000292410.3_Missense_Mutation_p.C56Y	NM_002011.3|NM_213647.1	NP_002002.3|NP_998812.1	P22455	FGFR4_HUMAN	fibroblast growth factor receptor 4	56	Ig-like C2-type 1.				insulin receptor signaling pathway|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	34	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Palifermin(DB00039)	GTGCGTCTGTGCTGTGGGCGG	0.682										TSP Lung(9;0.080)			20	41					0	0	1	0	0	A	176517466	G	A	176517466	3	1	81	1	0	0	0	0	1	0	0	0	5901	1319	46	2	173	2	FGFR4	5	176517466	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	209292	176517466	4397794	4960	8576											
FGFR4	2264	broad.mit.edu	37	5	176518737	176518737	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:176518737C>T	ENST00000292408.4	+	6	900	c.655C>T	c.(655-657)Cgc>Tgc	p.R219C	FGFR4_ENST00000393637.1_Missense_Mutation_p.R219C|FGFR4_ENST00000502906.1_Missense_Mutation_p.R219C|FGFR4_ENST00000393648.2_Missense_Mutation_p.R219C|FGFR4_ENST00000292410.3_Missense_Mutation_p.R219C	NM_002011.3|NM_213647.1	NP_002002.3|NP_998812.1	P22455	FGFR4_HUMAN	fibroblast growth factor receptor 4	219	Ig-like C2-type 2.				insulin receptor signaling pathway|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	34	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Palifermin(DB00039)	GCCCTCGGACCGCGGCACATA	0.637										TSP Lung(9;0.080)			15	31					0	0	1	0	0	T	176518737	C	T	176518737	3	4	81	1	0	0	0	0	1	0	0	0	5901	652	23	1	673	1	FGFR4	5	176518737	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1271	176518737	4396523	4961	8577											
NSD1	64324	broad.mit.edu	37	5	176638615	176638615	+	Missense_Mutation	SNP	G	G	A	rs28932180		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:176638615G>A	ENST00000439151.2	+	5	3260	c.3215G>A	c.(3214-3216)cGa>cAa	p.R1072Q	NSD1_ENST00000354179.4_Missense_Mutation_p.R803Q|NSD1_ENST00000347982.4_Missense_Mutation_p.R803Q|NSD1_ENST00000361032.4_Missense_Mutation_p.R969Q	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1072					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		CAGGGAGACCGAGAACGTGGA	0.463			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			48	67					0	0	1	0	0	A	176638615	G	A	176638615	3	1	81	1	0	0	0	0	1	0	0	0	10717	1058	37	1	3229	1	NSD1	5	176638615	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	119878	176638615	4276645	4962	8578											
NSD1	64324	broad.mit.edu	37	5	176707732	176707732	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:176707732G>A	ENST00000439151.2	+	18	5834	c.5789G>A	c.(5788-5790)cGc>cAc	p.R1930H	NSD1_ENST00000354179.4_Missense_Mutation_p.R1661H|NSD1_ENST00000361032.4_Missense_Mutation_p.R1827H|NSD1_ENST00000347982.4_Missense_Mutation_p.R1661H	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1930	AWS.				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		GCCGGAGGGCGCTGTCAAAAC	0.498			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			4	53					0	0	1	0	0	A	176707732	G	A	176707732	3	1	81	1	0	0	0	0	1	0	0	0	10717	1087	38	1	5855	1	NSD1	5	176707732	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	69117	176707732	4207528	4963	8579											
NSD1	64324	broad.mit.edu	37	5	176722240	176722240	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:176722240C>A	ENST00000439151.2	+	23	7916	c.7871C>A	c.(7870-7872)cCc>cAc	p.P2624H	NSD1_ENST00000354179.4_Missense_Mutation_p.P2355H|NSD1_ENST00000361032.4_Missense_Mutation_p.P2521H|NSD1_ENST00000347982.4_Missense_Mutation_p.P2355H	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	2624					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		GAGCAAAGTCCCTGGGCCCTG	0.587			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			7	49					0.00198382	0.00209725	1	1	0	A	176722240	C	A	176722240	3	1	81	1	0	0	0	0	1	0	0	0	10717	623	22	5	7957	5	NSD1	5	176722240	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	14508	176722240	4193020	4964	8580											
SLC34A1	6569	broad.mit.edu	37	5	176815130	176815130	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:176815130C>T	ENST00000324417.5	+	7	871	c.780C>T	c.(778-780)ggC>ggT	p.G260G	SLC34A1_ENST00000512593.1_Silent_p.G260G	NM_003052.4	NP_003043.3	Q06495	NPT2A_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 1	260					phosphate ion homeostasis|response to cadmium ion|response to lead ion|response to mercury ion|sodium ion transport	brush border membrane|integral to plasma membrane	protein binding|sodium-dependent phosphate transmembrane transporter activity|symporter activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TCCATGGTGGCCGTGATGCTC	0.602													5	36					0	0	1	0	0	T	176815130	C	T	176815130	2	4	81	1	0	0	0	0	0	0	0	1	14622	726	26	2		2	SLC34A1	5	176815130	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	92890	176815130	4100130	4965	8581											
SLC34A1	6569	broad.mit.edu	37	5	176824065	176824065	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:176824065G>A	ENST00000324417.5	+	12	1497	c.1406G>A	c.(1405-1407)aGc>aAc	p.S469N	SLC34A1_ENST00000513614.1_3'UTR	NM_003052.4	NP_003043.3	Q06495	NPT2A_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 1	469					phosphate ion homeostasis|response to cadmium ion|response to lead ion|response to mercury ion|sodium ion transport	brush border membrane|integral to plasma membrane	protein binding|sodium-dependent phosphate transmembrane transporter activity|symporter activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AAGCTGTCCAGCGCTTTCCAG	0.627													9	15					0	0	1	0	0	A	176824065	G	A	176824065	3	1	81	1	0	0	0	0	1	0	0	0	14622	971	34	2	1539	2	SLC34A1	5	176824065	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	8935	176824065	4091195	4966	8582											
DBN1	1627	broad.mit.edu	37	5	176893796	176893796	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:176893796G>A	ENST00000292385.5	-	9	1363	c.754C>T	c.(754-756)Cgg>Tgg	p.R252W	DBN1_ENST00000393565.1_Missense_Mutation_p.R250W|DBN1_ENST00000309007.5_Missense_Mutation_p.R250W	NM_080881.2	NP_543157	Q16643	DREB_HUMAN	drebrin 1	250					actin filament organization|regulation of dendrite development|regulation of neuronal synaptic plasticity	actomyosin|cytoplasm|dendrite	actin binding|profilin binding			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(12)|ovary(1)|skin(2)	25	all_cancers(89;2.17e-05)|Renal(175;0.000269)|Lung NSC(126;0.0014)|all_lung(126;0.0025)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TCCTTCAACCGCCTCTTGGCC	0.602													87	137					0	0	1	0	0	A	176893796	G	A	176893796	3	1	81	1	0	0	0	0	1	0	0	0	4276	1086	38	1	1229	1	DBN1	5	176893796	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	69731	176893796	4021464	4967	8583											
DOK3	79930	broad.mit.edu	37	5	176931113	176931113	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:176931113C>T	ENST00000501403.2	-	6	1543	c.1194G>A	c.(1192-1194)cgG>cgA	p.R398R	DOK3_ENST00000377112.4_Intron|DOK3_ENST00000357198.4_Silent_p.R454R|DOK3_ENST00000312943.6_Intron			Q7L591	DOK3_HUMAN	docking protein 3	454	Pro-rich.					cytoplasm|plasma membrane	insulin receptor binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|lung(7)	13	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191)			CCAGCAGCCGCCGGTACTGGG	0.677													3	10					0	0	1	0	0	T	176931113	C	T	176931113	2	4	81	1	0	0	0	0	0	0	0	1	4725	726	26	2		2	DOK3	5	176931113	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	37317	176931113	3984147	4968	8584											
DOK3	79930	broad.mit.edu	37	5	176931382	176931382	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:176931382G>T	ENST00000501403.2	-	6	1274	c.925C>A	c.(925-927)Ctg>Atg	p.L309M	DOK3_ENST00000377112.4_Intron|DOK3_ENST00000357198.4_Missense_Mutation_p.L365M|DOK3_ENST00000312943.6_Intron			Q7L591	DOK3_HUMAN	docking protein 3	365	IRS-type PTB.					cytoplasm|plasma membrane	insulin receptor binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|lung(7)	13	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191)			AGTAGCGGCAGGCTCTGGGGT	0.672													4	19					0.000602214	0.000646338	1	1	0	T	176931382	G	T	176931382	3	4	81	1	0	0	0	0	1	0	0	0	4725	991	35	4	753	4	DOK3	5	176931382	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	269	176931382	3983878	4969	8585											
DDX41	51428	broad.mit.edu	37	5	176939798	176939798	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:176939798G>A	ENST00000507955.1	-	13	1905	c.1382C>T	c.(1381-1383)gCc>gTc	p.A461V		NM_016222.2	NP_057306.2	Q9UJV9	DDX41_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 41	461	Helicase C-terminal.				apoptosis|multicellular organismal development	catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding|zinc ion binding					all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191)			CCCATGGATGGCTACGGCCTC	0.587													39	58					0	0	1	0	0	A	176939798	G	A	176939798	3	1	81	1	0	0	0	0	1	0	0	0	4384	1203	42	2	506	2	DDX41	5	176939798	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	8416	176939798	3975462	4970	8586											
FAM193B	54540	broad.mit.edu	37	5	176965998	176965998	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:176965998G>A	ENST00000443375.2	-	3	1580	c.22C>T	c.(22-24)Ctc>Ttc	p.L8F	FAM193B_ENST00000329540.5_5'UTR|FAM193B_ENST00000508298.1_Intron|FAM193B_ENST00000514747.1_Missense_Mutation_p.L121F			Q6IPW0	Q6IPW0_HUMAN	family with sequence similarity 193, member B	0										kidney(1)|large_intestine(3)	4						TCGCCTAGGAGATTCTTGACG	0.552													20	42					0	0	1	0	0	A	176965998	G	A	176965998	3	1	81	1	0	0	0	0	1	0	0	0	5557	942	33	2	2379	2	FAM193B	5	176965998	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	26200	176965998	3949262	4971	8587											
RMND5B	64777	broad.mit.edu	37	5	177571012	177571012	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:177571012G>A	ENST00000515098.1	+	8	948	c.597G>A	c.(595-597)ctG>ctA	p.L199L	RMND5B_ENST00000313386.4_Silent_p.L199L|RMND5B_ENST00000542098.1_Silent_p.L186L			Q96G75	RMD5B_HUMAN	required for meiotic nuclear division 5 homolog B (S. cerevisiae)	199	CTLH.									endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)	17	all_cancers(89;0.00294)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGCACCGACTGCACTTCATCC	0.632													7	67					0	0	1	0	0	A	177571012	G	A	177571012	2	1	81	1	0	0	0	0	0	0	0	1	13450	1306	46	2		2	RMND5B	5	177571012	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	605014	177571012	3344248	4972	8588											
ZNF354A	6940	broad.mit.edu	37	5	178139101	178139101	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:178139101A>T	ENST00000335815.2	-	5	1975	c.1778T>A	c.(1777-1779)cTt>cAt	p.L593H		NM_005649.2	NP_005640.2	O60765	Z354A_HUMAN	zinc finger protein 354A	593					regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(7)|lung(3)|ovary(2)|skin(2)|stomach(2)	19	all_cancers(89;0.000536)|Renal(175;0.000159)|all_epithelial(37;0.000221)|Lung NSC(126;0.00308)|all_lung(126;0.00536)	all_cancers(40;0.0452)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.185)		ATGATTAGTAAGGGATGACCT	0.368													6	79					0	0	1	0	0	T	178139101	A	T	178139101	3	4	81	1	0	0	0	0	1	0	0	0	17921	72	3	5	43	5	ZNF354A	5	178139101	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	568089	178139101	2776159	4973	8589											
ZNF354A	6940	broad.mit.edu	37	5	178140504	178140504	+	Silent	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:178140504A>C	ENST00000335815.2	-	5	572	c.375T>G	c.(373-375)ccT>ccG	p.P125P		NM_005649.2	NP_005640.2	O60765	Z354A_HUMAN	zinc finger protein 354A	125					regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(7)|lung(3)|ovary(2)|skin(2)|stomach(2)	19	all_cancers(89;0.000536)|Renal(175;0.000159)|all_epithelial(37;0.000221)|Lung NSC(126;0.00308)|all_lung(126;0.00536)	all_cancers(40;0.0452)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.185)		CATATATGTAAGGCTTTTCTA	0.378													6	104					0	0	1	0	0	C	178140504	A	C	178140504	2	2	81	1	0	0	0	0	0	0	0	1	17921	59	3	5		5	ZNF354A	5	178140504	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	1403	178140504	2774756	4974	8590											
ZNF354B	117608	broad.mit.edu	37	5	178310185	178310185	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:178310185T>C	ENST00000322434.3	+	5	958	c.732T>C	c.(730-732)tgT>tgC	p.C244C		NM_058230.2	NP_478137.1	Q96LW1	Z354B_HUMAN	zinc finger protein 354B	244					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|kidney(2)|large_intestine(7)|liver(2)|lung(2)|ovary(2)|stomach(3)|urinary_tract(1)	21	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TATTTAAATGTAAAGAATGTT	0.333													69	98					0	0	1	0	0	C	178310185	T	C	178310185	2	2	81	1	0	0	0	0	0	0	0	1	17922	1644	57	3		3	ZNF354B	5	178310185	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	169681	178310185	2605075	4975	8591											
ZNF354B	117608	broad.mit.edu	37	5	178310441	178310441	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:178310441C>T	ENST00000322434.3	+	5	1214	c.988C>T	c.(988-990)Cca>Tca	p.P330S		NM_058230.2	NP_478137.1	Q96LW1	Z354B_HUMAN	zinc finger protein 354B	330					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|kidney(2)|large_intestine(7)|liver(2)|lung(2)|ovary(2)|stomach(3)|urinary_tract(1)	21	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TAAATACAATCCAGGCAGGAA	0.388													21	54					0	0	1	0	0	T	178310441	C	T	178310441	3	4	81	1	0	0	0	0	1	0	0	0	17922	855	30	2	1002	2	ZNF354B	5	178310441	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	256	178310441	2604819	4976	8592											
ZNF354B	117608	broad.mit.edu	37	5	178310634	178310634	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:178310634G>T	ENST00000322434.3	+	5	1407	c.1181G>T	c.(1180-1182)aGt>aTt	p.S394I		NM_058230.2	NP_478137.1	Q96LW1	Z354B_HUMAN	zinc finger protein 354B	394					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|kidney(2)|large_intestine(7)|liver(2)|lung(2)|ovary(2)|stomach(3)|urinary_tract(1)	21	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TTCAGCCAGAGTGCCTCTCTT	0.408													27	37					6.70999e-13	8.41593e-13	1	1	0	T	178310634	G	T	178310634	3	4	81	1	0	0	0	0	1	0	0	0	17922	1029	36	4	1195	4	ZNF354B	5	178310634	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	193	178310634	2604626	4977	8593											
ZNF354B	117608	broad.mit.edu	37	5	178311162	178311162	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:178311162G>T	ENST00000322434.3	+	5	1935	c.1709G>T	c.(1708-1710)aGa>aTa	p.R570I	ZNF354B_ENST00000522714.1_3'UTR	NM_058230.2	NP_478137.1	Q96LW1	Z354B_HUMAN	zinc finger protein 354B	570					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|kidney(2)|large_intestine(7)|liver(2)|lung(2)|ovary(2)|stomach(3)|urinary_tract(1)	21	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCACATCAAAGAATTCATACT	0.343													26	36					9.86323e-18	1.27458e-17	1	1	0	T	178311162	G	T	178311162	3	4	81	1	0	0	0	0	1	0	0	0	17922	942	33	4	1723	4	ZNF354B	5	178311162	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	528	178311162	2604098	4978	8594											
ZFP2	80108	broad.mit.edu	37	5	178358812	178358812	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:178358812C>A	ENST00000361362.2	+	5	1028	c.498C>A	c.(496-498)gcC>gcA	p.A166A	ZFP2_ENST00000523286.1_Silent_p.A166A|ZFP2_ENST00000503510.2_Silent_p.A166A|ZFP2_ENST00000520301.1_Silent_p.A166A	NM_030613.2	NP_085116.2	Q6ZN57	ZFP2_HUMAN	ZFP2 zinc finger protein	166					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	20	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.00655)|GBM - Glioblastoma multiforme(465;0.0302)|OV - Ovarian serous cystadenocarcinoma(192;0.0615)|Epithelial(171;0.111)		GTGGGAAAGCCTTTAGTCAGA	0.403													4	39					0.00909568	0.00944708	1	1	0	A	178358812	C	A	178358812	2	1	81	1	0	0	0	0	0	0	0	1	17699	668	24	4		4	ZFP2	5	178358812	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	47650	178358812	2556448	4979	8595											
GRM6	2916	broad.mit.edu	37	5	178416035	178416035	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:178416035G>A	ENST00000231188.5	-	6	1433	c.1255C>T	c.(1255-1257)Cac>Tac	p.H419Y	GRM6_ENST00000517717.1_Missense_Mutation_p.H419Y|RP11-281O15.4_ENST00000519491.1_RNA	NM_000843.3	NP_000834.2	O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	419					detection of visible light|visual perception	integral to plasma membrane				NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		AGCGCCTGGTGCATGCTGTGG	0.627													6	12					0	0	1	0	0	A	178416035	G	A	178416035	3	1	81	1	0	0	0	0	1	0	0	0	6842	1319	46	2	1398	2	GRM6	5	178416035	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	57223	178416035	2499225	4980	8596											
ADAMTS2	9509	broad.mit.edu	37	5	178559886	178559886	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:178559886C>T	ENST00000251582.7	-	14	2202	c.2101G>A	c.(2101-2103)Ggt>Agt	p.G701S		NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	701	Cys-rich.				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		CCGATCACACCGTCACAGCCC	0.582													6	12					0	0	1	0	0	T	178559886	C	T	178559886	3	4	81	1	0	0	0	0	1	0	0	0	264	652	23	1	1570	1	ADAMTS2	5	178559886	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	143851	178559886	2355374	4981	8597											
RUFY1	80230	broad.mit.edu	37	5	178996388	178996388	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:178996388G>A	ENST00000377001.2	+	5	790	c.790G>A	c.(790-792)Gcc>Acc	p.A264T	RUFY1_ENST00000437570.2_Missense_Mutation_p.A156T|RUFY1_ENST00000319449.4_Missense_Mutation_p.A264T|RUFY1_ENST00000393438.2_Missense_Mutation_p.A156T			Q96T51	RUFY1_HUMAN	RUN and FYVE domain containing 1	264	RUN.				endocytosis|protein transport	early endosome membrane	lipid binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	26	all_cancers(89;0.00018)|all_epithelial(37;8.37e-05)|Renal(175;0.000159)|Lung NSC(126;0.00108)|all_lung(126;0.00195)	all_cancers(40;0.0322)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGTTCTCGATGCCAATCTCTG	0.443										HNSCC(44;0.11)			42	79					0	0	1	0	0	A	178996388	G	A	178996388	3	1	81	1	0	0	0	0	1	0	0	0	13790	1319	46	2	808	2	RUFY1	5	178996388	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	436502	178996388	1918872	4982	8598											
HNRNPH1	3187	broad.mit.edu	37	5	179042596	179042596	+	Splice_Site	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:179042596T>C	ENST00000356731.5	-	12	2836	c.1301A>G	c.(1300-1302)gAc>gGc	p.D434G	HNRNPH1_ENST00000510411.1_Splice_Site_p.D414G|HNRNPH1_ENST00000511300.2_Splice_Site_p.D144G|HNRNPH1_ENST00000393432.4_Splice_Site_p.D434G|HNRNPH1_ENST00000442819.2_Splice_Site_p.D434G|HNRNPH1_ENST00000329433.6_Intron			P31943	HNRH1_HUMAN	heterogeneous nuclear ribonucleoprotein H1 (H)	434					regulation of RNA splicing	actin cytoskeleton|catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|poly(U) RNA binding|protein binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|skin(1)	14						TAAAACTTGGTCTGCAAAAGG	0.289													12	23					0	0	1	0	0	C	179042596	T	C	179042596	5	2	81	1	0	0	0	0	0	0	1	0	7307	1681	58	3	52	3	HNRNPH1	5	179042596	Splice_Site	SNP	T	TCGA-DU-6392-01A-11D-1705-08	46208	179042596	1872664	4983	8599											
CANX	821	broad.mit.edu	37	5	179143190	179143190	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:179143190C>A	ENST00000247461.4	+	8	1006	c.806C>A	c.(805-807)cCt>cAt	p.P269H	CANX_ENST00000503126.1_3'UTR|CANX_ENST00000504734.1_Missense_Mutation_p.P269H|CANX_ENST00000512607.2_Missense_Mutation_p.P161H|CANX_ENST00000415618.2_Missense_Mutation_p.P304H|CANX_ENST00000452673.2_Missense_Mutation_p.P269H	NM_001746.3	NP_001737.1	P27824	CALX_HUMAN	calnexin	269					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|protein secretion	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane|melanosome	calcium ion binding|sugar binding|unfolded protein binding			breast(1)|endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|prostate(2)|urinary_tract(3)	22	all_cancers(89;0.000129)|all_epithelial(37;5.59e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0413)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Reteplase(DB00015)|Tenecteplase(DB00031)	ATGACTCCTCCTGTAAATCCT	0.423													7	99					0.00307968	0.00324365	1	1	0	A	179143190	C	A	179143190	3	1	81	1	0	0	0	0	1	0	0	0	2636	681	24	4	832	4	CANX	5	179143190	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	100594	179143190	1772070	4984	8600											
MAML1	9794	broad.mit.edu	37	5	179192400	179192400	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:179192400A>G	ENST00000292599.3	+	2	652	c.389A>G	c.(388-390)tAc>tGc	p.Y130C	MAML1_ENST00000503050.1_3'UTR	NM_014757.4	NP_055572.1	Q92585	MAML1_HUMAN	mastermind-like 1 (Drosophila)	130					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	peptide antigen binding|protein kinase binding|transcription coactivator activity			central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	36	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CAGAATGGCTACGGGGACCTC	0.522													3	55					0	0	1	0	0	G	179192400	A	G	179192400	3	3	81	1	0	0	0	0	1	0	0	0	9255	391	14	3	395	3	MAML1	5	179192400	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	49210	179192400	1722860	4985	8601											
SQSTM1	8878	broad.mit.edu	37	5	179250876	179250876	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:179250876G>A	ENST00000389805.4	+	3	498	c.320G>A	c.(319-321)cGg>cAg	p.R107Q	SQSTM1_ENST00000402874.3_Missense_Mutation_p.R23Q|SQSTM1_ENST00000376929.3_Missense_Mutation_p.R23Q|SQSTM1_ENST00000360718.5_Missense_Mutation_p.R23Q|SQSTM1_ENST00000510187.1_Missense_Mutation_p.R107Q	NM_003900.4	NP_003891.1	Q13501	SQSTM_HUMAN	sequestosome 1	107	Interaction with PRKCZ and dimerization (By similarity).				anti-apoptosis|apoptosis|cell differentiation|endosome transport|induction of apoptosis by extracellular signals|intracellular signal transduction|macroautophagy|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein localization|regulation of I-kappaB kinase/NF-kappaB cascade|ubiquitin-dependent protein catabolic process	cytosol|late endosome|nucleoplasm	protein kinase C binding|receptor tyrosine kinase binding|SH2 domain binding|ubiquitin binding|zinc ion binding		SQSTM1/ALK(2)	NS(1)|breast(1)|endometrium(1)|large_intestine(2)|liver(2)|lung(5)|ovary(1)	13	all_cancers(89;0.000205)|all_epithelial(37;7.15e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0395)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GAGTGCCGGCGGGACCACCGC	0.622													31	38					0	0	1	0	0	A	179250876	G	A	179250876	3	1	81	1	0	0	0	0	1	0	0	0	15186	1116	39	1	330	1	SQSTM1	5	179250876	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	58476	179250876	1664384	4986	8602											
C5orf45	51149	broad.mit.edu	37	5	179264753	179264753	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:179264753C>A	ENST00000292586.6	-	7	760	c.670G>T	c.(670-672)Gcc>Tcc	p.A224S	SQSTM1_ENST00000389805.4_3'UTR|SQSTM1_ENST00000376929.3_3'UTR|C5orf45_ENST00000376931.2_Missense_Mutation_p.A169S|C5orf45_ENST00000403396.2_Intron|C5orf45_ENST00000518219.1_3'UTR|C5orf45_ENST00000521333.1_Missense_Mutation_p.S110I|C5orf45_ENST00000523267.1_5'UTR|C5orf45_ENST00000523084.1_Missense_Mutation_p.A90S|C5orf45_ENST00000520698.1_Intron|C5orf45_ENST00000518235.1_Intron	NM_016175.3	NP_057259.2	Q6NTE8	CE045_HUMAN	chromosome 5 open reading frame 45	224										breast(2)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12						GAGGATGTGGCTGTAACCTGC	0.587													7	45					8.12818e-05	8.94031e-05	1	1	0	A	179264753	C	A	179264753	3	1	81	1	0	0	0	0	1	0	0	0	2319	797	28	4	365	4	C5orf45	5	179264753	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	13877	179264753	1650507	4987	8603											
TBC1D9B	23061	broad.mit.edu	37	5	179292287	179292287	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:179292287C>A	ENST00000356834.3	-	21	3076	c.3039G>T	c.(3037-3039)aaG>aaT	p.K1013N	TBC1D9B_ENST00000518085.1_5'UTR|TBC1D9B_ENST00000355235.3_Missense_Mutation_p.K996N|TBC1D9B_ENST00000444477.2_Missense_Mutation_p.K154N|TBC1D9B_ENST00000519746.1_Missense_Mutation_p.K172N	NM_198868.2	NP_942568.2	Q66K14	TBC9B_HUMAN	TBC1 domain family, member 9B (with GRAM domain)	1013						integral to membrane|intracellular	calcium ion binding|Rab GTPase activator activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	28	all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TAATCGTCTCCTTCTGAGCCT	0.517													8	87					5.4927e-09	6.5834e-09	1	1	0	A	179292287	C	A	179292287	3	1	81	1	0	0	0	0	1	0	0	0	15688	680	24	4	721	4	TBC1D9B	5	179292287	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	27534	179292287	1622973	4988	8604											
RNF130	55819	broad.mit.edu	37	5	179440075	179440075	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:179440075G>A	ENST00000522208.2	-	3	697	c.679C>T	c.(679-681)Cgc>Tgc	p.R227C	RNF130_ENST00000261947.4_Missense_Mutation_p.R227C|RNF130_ENST00000521389.1_Missense_Mutation_p.R227C			Q86XS8	GOLI_HUMAN	ring finger protein 130	227					apoptosis	cytoplasm|integral to membrane|nucleus	ubiquitin-protein ligase activity|zinc ion binding			breast(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	17	all_cancers(89;5.49e-05)|all_epithelial(37;1.94e-05)|Renal(175;0.000159)|Lung NSC(126;0.00118)|all_lung(126;0.00212)	all_cancers(40;0.0294)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TTCCTGTCGCGTGCATTTGTG	0.413													61	107					0	0	1	0	0	A	179440075	G	A	179440075	3	1	81	1	0	0	0	0	1	0	0	0	13490	1145	40	1	608	1	RNF130	5	179440075	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	147788	179440075	1475185	4989	8605											
GFPT2	9945	broad.mit.edu	37	5	179743862	179743862	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:179743862C>A	ENST00000253778.8	-	12	1224		c.e12-1		GFPT2_ENST00000520165.1_Splice_Site	NM_005110.2	NP_005101.1	O94808	GFPT2_HUMAN	glutamine-fructose-6-phosphate transaminase 2						dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34	all_cancers(89;4.97e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	Medulloblastoma(196;0.0392)|all_neural(177;0.0529)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		L-Glutamine(DB00130)	CCCAGGAGCACTGCAGGGCAC	0.587													5	37					0.000602214	0.000646338	1	1	0	A	179743862	C	A	179743862	5	1	81	1	0	0	0	0	0	0	1	0	6388	579	20	4	1026	4	GFPT2	5	179743862	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	303787	179743862	1171398	4990	8606											
FLT4	2324	broad.mit.edu	37	5	180035977	180035977	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:180035977C>T	ENST00000261937.6	-	29	3962	c.3884G>A	c.(3883-3885)aGc>aAc	p.S1295N	FLT4_ENST00000393347.3_Missense_Mutation_p.S1295N|FLT4_ENST00000502649.1_Missense_Mutation_p.S1295N	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	1295					positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	CCTGAAGCCGCTTTCTTGTCT	0.602													25	54					0	0	1	0	0	T	180035977	C	T	180035977	3	4	81	1	0	0	0	0	1	0	0	0	5977	797	28	2	223	2	FLT4	5	180035977	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	292115	180035977	879283	4991	8607											
FLT4	2324	broad.mit.edu	37	5	180049799	180049799	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:180049799G>A	ENST00000261937.6	-	12	1667	c.1589C>T	c.(1588-1590)gCc>gTc	p.A530V	FLT4_ENST00000393347.3_Missense_Mutation_p.A530V|FLT4_ENST00000424276.2_5'UTR|FLT4_ENST00000502649.1_Missense_Mutation_p.A530V	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	530	Ig-like C2-type 5.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	CTTGTACATGGCAGACACGTT	0.577													14	24					0	0	1	0	0	A	180049799	G	A	180049799	3	1	81	1	0	0	0	0	1	0	0	0	5977	1203	42	2	2586	2	FLT4	5	180049799	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	13822	180049799	865461	4992	8608											
MGAT1	4245	broad.mit.edu	37	5	180218882	180218882	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:180218882C>T	ENST00000446023.2	-	3	1840	c.1090G>A	c.(1090-1092)Ggt>Agt	p.G364S	MGAT1_ENST00000333055.3_Missense_Mutation_p.G364S|MGAT1_ENST00000427865.2_Missense_Mutation_p.G364S|MGAT1_ENST00000307826.4_Missense_Mutation_p.G364S|MGAT1_ENST00000393340.3_Missense_Mutation_p.G364S	NM_001114617.1|NM_001114618.1	NP_001108089.1|NP_001108090.1	P26572	MGAT1_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase	364					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity|metal ion binding			endometrium(1)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	13	all_cancers(89;1.11e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.0027)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00356)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGGGGAGCACCGTAGACGCGG	0.587													4	55					0	0	1	0	0	T	180218882	C	T	180218882	3	4	81	1	0	0	0	0	1	0	0	0	9592	652	23	1	251	1	MGAT1	5	180218882	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	169083	180218882	696378	4993	8609											
MGAT1	4245	broad.mit.edu	37	5	180218899	180218899	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:180218899A>G	ENST00000446023.2	-	3	1823	c.1073T>C	c.(1072-1074)tTc>tCc	p.F358S	MGAT1_ENST00000333055.3_Missense_Mutation_p.F358S|MGAT1_ENST00000427865.2_Missense_Mutation_p.F358S|MGAT1_ENST00000307826.4_Missense_Mutation_p.F358S|MGAT1_ENST00000393340.3_Missense_Mutation_p.F358S	NM_001114617.1|NM_001114618.1	NP_001108089.1|NP_001108090.1	P26572	MGAT1_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase	358					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity|metal ion binding			endometrium(1)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	13	all_cancers(89;1.11e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.0027)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00356)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCGGGCGAGGAAATCTCGGTC	0.587													4	60					0	0	1	0	0	G	180218899	A	G	180218899	3	3	81	1	0	0	0	0	1	0	0	0	9592	246	9	3	268	3	MGAT1	5	180218899	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	17	180218899	696361	4994	8610											
BTNL8	79908	broad.mit.edu	37	5	180335749	180335749	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:180335749G>T	ENST00000231229.4	+	2	447	c.213G>T	c.(211-213)aaG>aaT	p.K71N	BTNL8_ENST00000511704.1_Intron|BTNL8_ENST00000508408.1_Missense_Mutation_p.K71N|BTNL8_ENST00000400707.3_Intron|BTNL8_ENST00000340184.4_Missense_Mutation_p.K71N	NM_001159708.1|NM_024850.2	NP_001153180.1|NP_079126.1	Q6UX41	BTNL8_HUMAN	butyrophilin-like 8	71	Ig-like V-type 1.					integral to membrane				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	28	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGGACGGGAAGGACCAGCCAT	0.527													34	80					3.03874e-20	3.96671e-20	1	1	0	T	180335749	G	T	180335749	3	4	81	1	0	0	0	0	1	0	0	0	1570	991	35	4	245	4	BTNL8	5	180335749	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	116850	180335749	579511	4995	8611											
BTNL8	79908	broad.mit.edu	37	5	180377169	180377169	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:180377169G>A	ENST00000340184.4	+	8	1334	c.1128G>A	c.(1126-1128)ggG>ggA	p.G376G	BTNL8_ENST00000505126.1_Silent_p.G169G|BTNL8_ENST00000533815.2_Silent_p.G192G|BTNL8_ENST00000231229.4_3'UTR|BTNL8_ENST00000508408.1_3'UTR|BTNL8_ENST00000511704.1_Silent_p.G260G|BTNL8_ENST00000400707.3_Silent_p.G251G	NM_001040462.2	NP_001035552.1	Q6UX41	BTNL8_HUMAN	butyrophilin-like 8	376	B30.2/SPRY.					integral to membrane				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	28	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCGATCATGGGTACTGGGTCC	0.517													18	33					0	0	1	0	0	A	180377169	G	A	180377169	2	1	81	1	0	0	0	0	0	0	0	1	1570	1248	44	2		2	BTNL8	5	180377169	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	41420	180377169	538091	4996	8612											
BTNL3	10917	broad.mit.edu	37	5	180419996	180419996	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:180419996T>C	ENST00000342868.6	+	2	417	c.233T>C	c.(232-234)aTg>aCg	p.M78T		NM_197975.2	NP_932079.1	Q6UXE8	BTNL3_HUMAN	butyrophilin-like 3	78					lipid metabolic process	integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(10)|prostate(2)|skin(1)	25	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.00336)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)|all_lung(500;0.248)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000272)			TCTAAGCAGATGCCACAGTAT	0.527													11	17					0	0	1	0	0	C	180419996	T	C	180419996	3	2	81	1	0	0	0	0	1	0	0	0	1569	1464	51	3	239	3	BTNL3	5	180419996	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	42827	180419996	495264	4997	8613											
OR2V2	285659	broad.mit.edu	37	5	180582541	180582541	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:180582541T>C	ENST00000328275.1	+	1	599	c.599T>C	c.(598-600)aTa>aCa	p.I200T		NM_206880.1	NP_996763.1	Q96R30	OR2V2_HUMAN	olfactory receptor, family 2, subfamily V, member 2	200					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	all_cancers(89;8.26e-06)|all_epithelial(37;1.02e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.0103)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0652)|all_lung(500;0.149)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GAGAAGGTGATATTTGCTTGC	0.483													77	98					0	0	1	0	0	C	180582541	T	C	180582541	3	2	81	1	0	0	0	0	1	0	0	0	11079	1406	49	3	601	3	OR2V2	5	180582541	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	162545	180582541	332719	4998	8614											
TRIM41	90933	broad.mit.edu	37	5	180660724	180660724	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:180660724G>A	ENST00000315073.5	+	5	1962	c.1252G>A	c.(1252-1254)Gtg>Atg	p.V418M	TRIM41_ENST00000351937.5_Missense_Mutation_p.V418M|TRIM41_ENST00000510072.1_3'UTR	NM_033549.4	NP_291027.3	Q8WV44	TRI41_HUMAN	tripartite motif containing 41	418	B30.2/SPRY.					cytoplasm|nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(3)|prostate(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	26	all_cancers(89;9.17e-06)|all_epithelial(37;1.19e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.000209)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGATGCCATCGTGAGGAAAAT	0.587													27	36					0	0	1	0	0	A	180660724	G	A	180660724	3	1	81	1	0	0	0	0	1	0	0	0	16577	1145	40	1	1270	1	TRIM41	5	180660724	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	78183	180660724	254536	4999	8615											
GNB2L1	10399	broad.mit.edu	37	5	180665164	180665164	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:180665164C>T	ENST00000512805.1	-	6	1120	c.712G>A	c.(712-714)Gcc>Acc	p.A238T	GNB2L1_ENST00000511900.1_Missense_Mutation_p.A190T|GNB2L1_ENST00000511566.1_Intron|GNB2L1_ENST00000504726.1_Intron|GNB2L1_ENST00000376817.4_Missense_Mutation_p.A194T|GNB2L1_ENST00000514455.1_Missense_Mutation_p.A22T	NM_006098.4	NP_006089.1	P63244	GBLP_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 2-like 1	238					apoptosis|cell cycle|gastrulation|interspecies interaction between organisms|negative regulation of cell growth|negative regulation of phagocytosis|negative regulation of translation|negative regulation of Wnt receptor signaling pathway|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of gastrulation|positive regulation of GTPase activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein homooligomerization|positive regulation of protein phosphorylation|regulation of cell cycle|regulation of cell division|regulation of establishment of cell polarity|regulation of protein localization|rhythmic process	cytoskeleton|dendrite|midbody|nucleus|perikaryon|perinuclear region of cytoplasm|phagocytic cup|small ribosomal subunit	ion channel inhibitor activity|protein kinase C binding|protein phosphatase binding|protein tyrosine kinase inhibitor activity|receptor tyrosine kinase binding|SH2 domain binding			lung(3)|skin(2)	5	all_cancers(89;8.79e-06)|all_epithelial(37;1.13e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0654)	all_cancers(40;0.000209)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.101)|all cancers(165;0.11)		AAGCACAGGGCGTTGATGATG	0.542													7	79					0	0	1	0	0	T	180665164	C	T	180665164	3	4	81	1	0	0	0	0	1	0	0	0	6560	768	27	1	253	1	GNB2L1	5	180665164	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	4440	180665164	250096	5000	8616											
DUSP22	56940	broad.mit.edu	37	6	335150	335150	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:335150C>T	ENST00000419235.2	+	4	253	c.175C>T	c.(175-177)Cca>Tca	p.P59S	DUSP22_ENST00000604971.1_Intron|DUSP22_ENST00000344450.5_Missense_Mutation_p.P59S|DUSP22_ENST00000605863.1_Intron|DUSP22_ENST00000603290.1_3'UTR|DUSP22_ENST00000603453.1_5'UTR|DUSP22_ENST00000605035.1_Intron|DUSP22_ENST00000605315.1_Intron			Q9NRW4	DUS22_HUMAN	dual specificity phosphatase 22	59					apoptosis|cell proliferation|inactivation of MAPK activity|multicellular organismal development|positive regulation of JNK cascade|regulation of cell proliferation|transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(2)	26	all_hematologic(77;0.228)	Breast(5;0.0249)|all_hematologic(90;0.0489)		OV - Ovarian serous cystadenocarcinoma(45;0.0277)|BRCA - Breast invasive adenocarcinoma(62;0.0669)		AGCGGATTCACCATCTCAAAA	0.323													7	45					0	0	1	0	0	T	335150	C	T	335150	3	4	81	1	0	0	0	0	1	0	0	0	4847	507	18	2	189	2	DUSP22	6	335150	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08		335150	170779917	5001	8617											
IRF4	3662	broad.mit.edu	37	6	401645	401645	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:401645G>A	ENST00000380956.4	+	7	1093	c.967G>A	c.(967-969)Ggg>Agg	p.G323R		NM_001195286.1|NM_002460.3	NP_001182215.1|NP_002451.2	Q15306	IRF4_HUMAN	interferon regulatory factor 4	323					interferon-gamma-mediated signaling pathway|positive regulation of interleukin-10 biosynthetic process|positive regulation of interleukin-13 biosynthetic process|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of transcription, DNA-dependent|regulation of T-helper cell differentiation|T cell activation|type I interferon-mediated signaling pathway	cytoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	p.G323R(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5		Breast(5;0.0155)|all_lung(73;0.0691)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.03)|BRCA - Breast invasive adenocarcinoma(62;0.0702)		GGCCCCCGACGGGCTCTATGC	0.612			T	IGH@	MM								19	29					0	0	1	0	0	A	401645	G	A	401645	3	1	81	1	0	0	0	0	1	0	0	0	7876	1116	39	1	989	1	IRF4	6	401645	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	66495	401645	170713422	5002	8618											
EXOC2	55770	broad.mit.edu	37	6	491132	491132	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:491132C>T	ENST00000230449.4	-	26	2749	c.2614G>A	c.(2614-2616)Gaa>Aaa	p.E872K	EXOC2_ENST00000448181.3_Missense_Mutation_p.E467K	NM_018303.5	NP_060773.3	Q96KP1	EXOC2_HUMAN	exocyst complex component 2	872					exocytosis|protein transport					breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|liver(1)|lung(16)|ovary(4)|pancreas(1)|prostate(2)	46	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)		TACTTGCTTTCGGGTGTCAGG	0.383													7	157					0	0	1	0	0	T	491132	C	T	491132	3	4	81	1	0	0	0	0	1	0	0	0	5329	893	31	1	172	1	EXOC2	6	491132	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	89487	491132	170623935	5003	8619											
EXOC2	55770	broad.mit.edu	37	6	553879	553879	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:553879A>G	ENST00000230449.4	-	21	2231	c.2096T>C	c.(2095-2097)aTc>aCc	p.I699T	EXOC2_ENST00000448181.3_Missense_Mutation_p.I294T	NM_018303.5	NP_060773.3	Q96KP1	EXOC2_HUMAN	exocyst complex component 2	699					exocytosis|protein transport					breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|liver(1)|lung(16)|ovary(4)|pancreas(1)|prostate(2)	46	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)		GTCTTCATGGATACTTCCAAA	0.358													3	36					0	0	1	0	0	G	553879	A	G	553879	3	3	81	1	0	0	0	0	1	0	0	0	5329	333	12	3	710	3	EXOC2	6	553879	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	62747	553879	170561188	5004	8620											
HUS1B	135458	broad.mit.edu	37	6	656183	656183	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:656183A>G	ENST00000380907.2	-	1	780	c.762T>C	c.(760-762)atT>atC	p.I254I	EXOC2_ENST00000230449.4_Intron|EXOC2_ENST00000448181.3_Intron	NM_148959.3	NP_683762.2	Q8NHY5	HUS1B_HUMAN	HUS1 checkpoint homolog b (S. pombe)	254										endometrium(3)|large_intestine(1)|lung(7)	11	Ovarian(93;0.0733)	Breast(5;0.00139)|all_lung(73;0.0691)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.041)|BRCA - Breast invasive adenocarcinoma(62;0.0965)		TATTGTCCCAAATATTGCACA	0.443													15	140					0	0	1	0	0	G	656183	A	G	656183	2	3	81	1	0	0	0	0	0	0	0	1	7504	10	1	3		3	HUS1B	6	656183	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	102304	656183	170458884	5005	8621											
HUS1B	135458	broad.mit.edu	37	6	656869	656869	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:656869G>A	ENST00000380907.2	-	1	94	c.76C>T	c.(76-78)Cta>Tta	p.L26L	EXOC2_ENST00000230449.4_Intron|EXOC2_ENST00000448181.3_Intron	NM_148959.3	NP_683762.2	Q8NHY5	HUS1B_HUMAN	HUS1 checkpoint homolog b (S. pombe)	26										endometrium(3)|large_intestine(1)|lung(7)	11	Ovarian(93;0.0733)	Breast(5;0.00139)|all_lung(73;0.0691)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.041)|BRCA - Breast invasive adenocarcinoma(62;0.0965)		ACCTTCGCTAGCCTCGCGACG	0.667													13	20					0	0	1	0	0	A	656869	G	A	656869	2	1	81	1	0	0	0	0	0	0	0	1	7504	962	34	2		2	HUS1B	6	656869	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	686	656869	170458198	5006	8622											
FOXQ1	94234	broad.mit.edu	37	6	1313531	1313531	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:1313531C>T	ENST00000296839.2	+	1	857	c.592C>T	c.(592-594)Ccc>Tcc	p.P198S		NM_033260.3	NP_150285.3	Q9C009	FOXQ1_HUMAN	forkhead box Q1	198					DNA fragmentation involved in apoptotic nuclear change|embryo development|hair follicle morphogenesis|pattern specification process|positive regulation of caspase activity|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	caspase regulator activity|DNA bending activity|double-stranded DNA binding|estrogen receptor binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|ubiquitin conjugating enzyme binding			lung(1)|urinary_tract(1)	2	Ovarian(93;0.0733)	Breast(5;0.052)|all_lung(73;0.0713)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.0954)|BRCA - Breast invasive adenocarcinoma(62;0.18)		GATGCTCAACCCCAACAGCGA	0.701													15	22					0	0	1	0	0	T	1313531	C	T	1313531	3	4	81	1	0	0	0	0	1	0	0	0	6064	623	22	2	594	2	FOXQ1	6	1313531	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	656662	1313531	169801536	5007	8623											
FOXF2	2295	broad.mit.edu	37	6	1390670	1390671	+	Frame_Shift_Ins	INS	-	-	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:1390670_1390671insG	ENST00000259806.1	+	1	602_603	c.488_489insG	c.(487-492)aagggcfs	p.KG163fs		NM_001452.1	NP_001443.1	Q12947	FOXF2_HUMAN	forkhead box F2	163					epithelial to mesenchymal transition|genitalia development|palate development|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding			large_intestine(2)|lung(5)|prostate(1)	8	Ovarian(93;0.0733)	all_lung(73;0.0713)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.095)		AAGCTGCCTAAGGGCCTCGGGC	0.673													40	56	---	---	---	---						G	1390671	-	G	1390670	7	5	81	1	0	1	1	0	0	0	0	0	6040	72	3	0	490	0	FOXF2	6	1390670	Frame_Shift_Ins	INS	-	TCGA-DU-6392-01A-11D-1705-08	77139	1390670	169724397	5008	8624											
FOXF2	2295	broad.mit.edu	37	6	1394964	1394964	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:1394964C>A	ENST00000259806.1	+	2	1319	c.1205C>A	c.(1204-1206)cCa>cAa	p.P402Q		NM_001452.1	NP_001443.1	Q12947	FOXF2_HUMAN	forkhead box F2	402					epithelial to mesenchymal transition|genitalia development|palate development|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding			large_intestine(2)|lung(5)|prostate(1)	8	Ovarian(93;0.0733)	all_lung(73;0.0713)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.095)		CACTCTACTCCAGTGTGTGAC	0.463													47	55					1.47857e-17	1.9092e-17	1	1	0	A	1394964	C	A	1394964	3	1	81	1	0	0	0	0	1	0	0	0	6040	594	21	5	1211	5	FOXF2	6	1394964	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	4294	1394964	169720103	5009	8625											
FOXC1	2296	broad.mit.edu	37	6	1610942	1610942	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:1610942A>G	ENST00000380874.2	+	1	262	c.262A>G	c.(262-264)Acc>Gcc	p.T88A		NM_001453.2	NP_001444.2	Q12948	FOXC1_HUMAN	forkhead box C1	88					anti-apoptosis|artery morphogenesis|blood vessel remodeling|brain development|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|germ cell migration|glycosaminoglycan metabolic process|lacrimal gland development|lymphangiogenesis|metanephros development|negative regulation of mitotic cell cycle|neural crest cell fate commitment|Notch signaling pathway|odontogenesis of dentine-containing tooth|ossification|ovarian follicle development|paraxial mesodermal cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|regulation of blood vessel size|regulation of organ growth|regulation of sequence-specific DNA binding transcription factor activity|somitogenesis|ureteric bud development|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	nuclear heterochromatin|transcription factor complex	chromatin DNA binding|DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding			large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	8	Ovarian(93;0.0733)	all_cancers(2;4.45e-07)|all_epithelial(2;4.33e-05)|all_lung(73;0.0713)|all_hematologic(90;0.0895)		Epithelial(2;0.0904)|OV - Ovarian serous cystadenocarcinoma(45;0.095)|all cancers(2;0.168)		CGCGCTCATCACCATGGCCAT	0.632													16	42					0	0	1	0	0	G	1610942	A	G	1610942	3	3	81	1	0	0	0	0	1	0	0	0	6027	159	6	3	264	3	FOXC1	6	1610942	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	215978	1610942	169504125	5010	8626											
SERPINB1	1992	broad.mit.edu	37	6	2836162	2836162	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:2836162G>A	ENST00000380739.5	-	6	865	c.663C>T	c.(661-663)taC>taT	p.Y221Y	SERPINB1_ENST00000537185.1_Silent_p.Y70Y	NM_030666.3	NP_109591.1	P30740	ILEU_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 1	221					regulation of proteolysis	cytoplasm|extracellular space	serine-type endopeptidase inhibitor activity			breast(4)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(2)|ovary(2)	13	Ovarian(93;0.0412)			OV - Ovarian serous cystadenocarcinoma(45;0.0717)		CCTCGCCTTGGTAAGGCAGTT	0.488													7	30					0	0	1	0	0	A	2836162	G	A	2836162	2	1	81	1	0	0	0	0	0	0	0	1	14150	1256	44	2		2	SERPINB1	6	2836162	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1225220	2836162	168278905	5011	8627											
SERPINB1	1992	broad.mit.edu	37	6	2840777	2840777	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:2840777A>G	ENST00000380739.5	-	2	246	c.44T>C	c.(43-45)cTg>cCg	p.L15P	SERPINB1_ENST00000537185.1_5'UTR|SERPINB1_ENST00000476896.1_5'UTR	NM_030666.3	NP_109591.1	P30740	ILEU_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 1	15					regulation of proteolysis	cytoplasm|extracellular space	serine-type endopeptidase inhibitor activity			breast(4)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(2)|ovary(2)	13	Ovarian(93;0.0412)			OV - Ovarian serous cystadenocarcinoma(45;0.0717)		CGCCAGGAACAGGTCCAAGGC	0.547													11	31					0	0	1	0	0	G	2840777	A	G	2840777	3	3	81	1	0	0	0	0	1	0	0	0	14150	188	7	3	1119	3	SERPINB1	6	2840777	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	4615	2840777	168274290	5012	8628											
SERPINB9	5272	broad.mit.edu	37	6	2890440	2890440	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:2890440C>A	ENST00000380698.4	-	7	1177	c.1088G>T	c.(1087-1089)aGa>aTa	p.R363I		NM_004155.5	NP_004146.1	P50453	SPB9_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 9	363					anti-apoptosis|cellular response to estrogen stimulus|immune response|mast cell mediated immunity|regulation of proteolysis	cytosol|extracellular space|nucleus	caspase inhibitor activity|protease binding|serine-type endopeptidase inhibitor activity			breast(1)|endometrium(4)|large_intestine(3)|lung(5)|pancreas(1)|prostate(1)	15	Ovarian(93;0.0412)	all_hematologic(90;0.108)				GCTGTTGGCTCTGTTGTGCCT	0.552													5	40					0.014758	0.0152304	1	1	0	A	2890440	C	A	2890440	3	1	81	1	0	0	0	0	1	0	0	0	14162	913	32	4	46	4	SERPINB9	6	2890440	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	49663	2890440	168224627	5013	8629											
NQO2	4835	broad.mit.edu	37	6	3019874	3019874	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:3019874G>A	ENST00000338130.2	+	10	1393	c.681G>A	c.(679-681)tgG>tgA	p.W227*	NQO2_ENST00000380441.1_Nonsense_Mutation_p.W189*|NQO2_ENST00000380455.4_Nonsense_Mutation_p.W227*|NQO2_ENST00000380430.1_Nonsense_Mutation_p.W227*|NQO2_ENST00000380454.4_Nonsense_Mutation_p.W189*			P16083	NQO2_HUMAN	NAD(P)H dehydrogenase, quinone 2	227						cytoplasm|nucleus	coenzyme binding|dihydronicotinamide riboside quinone reductase activity|electron carrier activity|metal ion binding|NADPH dehydrogenase (quinone) activity			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)	7	Ovarian(93;0.0412)	all_hematologic(90;0.0895)			Menadione(DB00170)|NADH(DB00157)	CAGCCCACTGGCACTTCGGGC	0.552													15	26					0	0	1	0	0	A	3019874	G	A	3019874	4	1	81	1	0	0	0	0	0	1	0	0	10660	1212	42	2	703	2	NQO2	6	3019874	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	129434	3019874	168095193	5014	8630											
RIPK1	8737	broad.mit.edu	37	6	3111146	3111146	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:3111146G>A	ENST00000259808.4	+	10	1984	c.1686G>A	c.(1684-1686)acG>acA	p.T562T	RIPK1_ENST00000541791.1_Silent_p.T516T|RIPK1_ENST00000380409.2_Silent_p.T562T			Q13546	RIPK1_HUMAN	receptor (TNFRSF)-interacting serine-threonine kinase 1	562	Interaction with SQSTM1.				activation of caspase activity|activation of JUN kinase activity|activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|induction of necroptosis by extracellular signals|innate immune response|MyD88-independent toll-like receptor signaling pathway|positive regulation of anti-apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 production|positive regulation of NF-kappaB transcription factor activity|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|protein autophosphorylation|regulation of ATP:ADP antiporter activity|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|death-inducing signaling complex|endosome membrane|mitochondrion|receptor complex	ATP binding|death domain binding|death receptor binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	23	Ovarian(93;0.0386)	all_hematologic(90;0.0895)				GCACAAATACGAACTTCAAAG	0.408													37	62					0	0	1	0	0	A	3111146	G	A	3111146	2	1	81	1	0	0	0	0	0	0	0	1	13432	1045	37	1		1	RIPK1	6	3111146	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	91272	3111146	168003921	5015	8631											
SLC22A23	63027	broad.mit.edu	37	6	3410478	3410478	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:3410478A>C	ENST00000436008.2	-	3	1319	c.857T>G	c.(856-858)cTc>cGc	p.L286R	SLC22A23_ENST00000380298.2_Missense_Mutation_p.L286R|SLC22A23_ENST00000406686.3_Missense_Mutation_p.L286R|SLC22A23_ENST00000380302.4_Missense_Mutation_p.L5R|SLC22A23_ENST00000490273.1_Missense_Mutation_p.L5R			A1A5C7	S22AN_HUMAN	solute carrier family 22, member 23	286					ion transport	integral to membrane	transmembrane transporter activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	14	Ovarian(93;0.0493)	all_hematologic(90;0.0905)				AAAGAACCTGAGTGTGCTGAA	0.463													4	33					0	0	1	0	0	C	3410478	A	C	3410478	3	2	81	1	0	0	0	0	1	0	0	0	14508	304	11	5	1235	5	SLC22A23	6	3410478	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	299332	3410478	167704589	5016	8632											
PRPF4B	8899	broad.mit.edu	37	6	4032437	4032437	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:4032437G>T	ENST00000337659.6	+	2	786	c.686G>T	c.(685-687)aGa>aTa	p.R229I	PRPF4B_ENST00000538861.1_Missense_Mutation_p.R215I	NM_003913.4	NP_003904.3	Q13523	PRP4B_HUMAN	pre-mRNA processing factor 4B	229	Arg/Lys-rich (basic).					catalytic step 2 spliceosome	ATP binding|protein binding|protein serine/threonine kinase activity			breast(6)|endometrium(3)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	22	Ovarian(93;0.0925)	all_hematologic(90;0.0895)				CCATCCAAAAGAAGTAAGTCT	0.383													72	128					3.13743e-37	4.20645e-37	1	1	0	T	4032437	G	T	4032437	3	4	81	1	0	0	0	0	1	0	0	0	12625	942	33	4	692	4	PRPF4B	6	4032437	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	621959	4032437	167082630	5017	8633											
PRPF4B	8899	broad.mit.edu	37	6	4050046	4050046	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:4050046C>T	ENST00000337659.6	+	9	2207	c.2107C>T	c.(2107-2109)Cga>Tga	p.R703*	PRPF4B_ENST00000538861.1_Nonsense_Mutation_p.R689*	NM_003913.4	NP_003904.3	Q13523	PRP4B_HUMAN	pre-mRNA processing factor 4B	703	Protein kinase.					catalytic step 2 spliceosome	ATP binding|protein binding|protein serine/threonine kinase activity			breast(6)|endometrium(3)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	22	Ovarian(93;0.0925)	all_hematologic(90;0.0895)				TAATGTTGTACGAGCCAGAGA	0.398													21	38					0	0	1	0	0	T	4050046	C	T	4050046	4	4	81	1	0	0	0	0	0	1	0	0	12625	528	19	1	2141	1	PRPF4B	6	4050046	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	17609	4050046	167065021	5018	8634											
CDYL	9425	broad.mit.edu	37	6	4892311	4892311	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:4892311G>A	ENST00000328908.5	+	4	682	c.551G>A	c.(550-552)cGg>cAg	p.R184Q	CDYL_ENST00000397588.3_Missense_Mutation_p.R130Q|CDYL_ENST00000449732.2_5'UTR|CDYL_ENST00000472453.1_Intron|CDYL_ENST00000343762.5_5'UTR			Q9Y232	CDYL1_HUMAN	chromodomain protein, Y-like	184					regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	histone acetyltransferase activity			breast(2)|kidney(2)|large_intestine(9)|lung(13)|skin(1)|stomach(2)|urinary_tract(1)	30	Ovarian(93;0.11)	all_hematologic(90;0.0901)|Lung NSC(90;0.244)		OV - Ovarian serous cystadenocarcinoma(45;0.182)		CTCTCCAGCCGGAAGAACATG	0.537													32	30					0	0	1	0	0	A	4892311	G	A	4892311	3	1	81	1	0	0	0	0	1	0	0	0	3207	1116	39	1	395	1	CDYL	6	4892311	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	842265	4892311	166222756	5019	8635											
CDYL	9425	broad.mit.edu	37	6	4952499	4952499	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:4952499G>A	ENST00000328908.5	+	8	1625		c.e8-1		CDYL_ENST00000397588.3_Splice_Site|CDYL_ENST00000449732.2_Splice_Site|CDYL_ENST00000472453.1_Splice_Site|CDYL_ENST00000343762.5_Splice_Site			Q9Y232	CDYL1_HUMAN	chromodomain protein, Y-like						regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	histone acetyltransferase activity			breast(2)|kidney(2)|large_intestine(9)|lung(13)|skin(1)|stomach(2)|urinary_tract(1)	30	Ovarian(93;0.11)	all_hematologic(90;0.0901)|Lung NSC(90;0.244)		OV - Ovarian serous cystadenocarcinoma(45;0.182)		CTTCCTTGCAGGCAAACGAGA	0.562													4	28					0	0	1	0	0	A	4952499	G	A	4952499	5	1	81	1	0	0	0	0	0	0	1	0	3207	1014	35	2	1354	2	CDYL	6	4952499	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	60188	4952499	166162568	5020	8636											
RPP40	10799	broad.mit.edu	37	6	4996278	4996278	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:4996278G>T	ENST00000380051.2	-	7	844	c.800C>A	c.(799-801)cCt>cAt	p.P267H	RPP40_ENST00000319533.5_Missense_Mutation_p.P244H|RPP40_ENST00000464646.1_Missense_Mutation_p.P207H	NM_006638.2	NP_006629.2	O75818	RPP40_HUMAN	ribonuclease P/MRP 40kDa subunit	267					tRNA processing	nucleolar ribonuclease P complex	protein binding|ribonuclease P activity			NS(1)|breast(1)|large_intestine(4)|lung(4)|ovary(1)|skin(2)|urinary_tract(1)	14	Ovarian(93;0.11)	all_hematologic(90;0.0895)				GCTTGGCTCAGGACAGCAATA	0.383													25	45					3.28513e-13	4.13666e-13	1	1	0	T	4996278	G	T	4996278	3	4	81	1	0	0	0	0	1	0	0	0	13666	1000	35	4	299	4	RPP40	6	4996278	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	43779	4996278	166118789	5021	8637											
RPP40	10799	broad.mit.edu	37	6	4996525	4996525	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:4996525G>A	ENST00000380051.2	-	6	733	c.689C>T	c.(688-690)aCg>aTg	p.T230M	RPP40_ENST00000319533.5_Missense_Mutation_p.T207M|RPP40_ENST00000464646.1_Missense_Mutation_p.T170M	NM_006638.2	NP_006629.2	O75818	RPP40_HUMAN	ribonuclease P/MRP 40kDa subunit	230					tRNA processing	nucleolar ribonuclease P complex	protein binding|ribonuclease P activity			NS(1)|breast(1)|large_intestine(4)|lung(4)|ovary(1)|skin(2)|urinary_tract(1)	14	Ovarian(93;0.11)	all_hematologic(90;0.0895)				CACCTCTGGCGTTCCCTCCAG	0.567													31	47					0	0	1	0	0	A	4996525	G	A	4996525	3	1	81	1	0	0	0	0	1	0	0	0	13666	1145	40	1	414	1	RPP40	6	4996525	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	247	4996525	166118542	5022	8638											
FARS2	10667	broad.mit.edu	37	6	5545496	5545496	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:5545496C>T	ENST00000324331.6	+	5	1324	c.988C>T	c.(988-990)Cgt>Tgt	p.R330C	FARS2_ENST00000274680.4_Missense_Mutation_p.R330C			O95363	SYFM_HUMAN	phenylalanyl-tRNA synthetase 2, mitochondrial	330					phenylalanyl-tRNA aminoacylation|tRNA processing	mitochondrial matrix|soluble fraction	ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|tRNA binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|prostate(1)|stomach(2)	15	Ovarian(93;0.11)	all_hematologic(90;0.0104)			L-Phenylalanine(DB00120)	CCCTGATATCCGTCTCTTCTG	0.473													73	119					0	0	1	0	0	T	5545496	C	T	5545496	3	4	81	1	0	0	0	0	1	0	0	0	5711	652	23	1	1002	1	FARS2	6	5545496	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	548971	5545496	165569571	5023	8639											
F13A1	2162	broad.mit.edu	37	6	6318784	6318784	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:6318784C>T	ENST00000264870.3	-	2	379	c.114G>A	c.(112-114)cgG>cgA	p.R38R		NM_000129.3	NP_000120.2	P00488	F13A_HUMAN	coagulation factor XIII, A1 polypeptide	38		Cleavage; by thrombin; to produce active factor XIII-A.			peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	GGTTGACGCCCCGGGGCACCA	0.622													38	85					0	0	1	0	0	T	6318784	C	T	6318784	2	4	81	1	0	0	0	0	0	0	0	1	5368	610	22	2		2	F13A1	6	6318784	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	773288	6318784	164796283	5024	8640											
RREB1	6239	broad.mit.edu	37	6	7230522	7230522	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:7230522C>T	ENST00000379938.2	+	10	2727	c.2190C>T	c.(2188-2190)atC>atT	p.I730I	RREB1_ENST00000349384.6_Silent_p.I730I|RREB1_ENST00000379933.3_Silent_p.I730I|RREB1_ENST00000334984.6_Silent_p.I730I	NM_001003699.3|NM_001003700.1	NP_001003699.1|NP_001003700.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	730					multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				GCAAGGATATCGAGAAGAACA	0.617													23	29					0	0	1	0	0	T	7230522	C	T	7230522	2	4	81	1	0	0	0	0	0	0	0	1	13731	874	31	1		1	RREB1	6	7230522	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	911738	7230522	163884545	5025	8641											
RREB1	6239	broad.mit.edu	37	6	7231482	7231482	+	Silent	SNP	G	G	A	rs146203523		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:7231482G>A	ENST00000379938.2	+	10	3687	c.3150G>A	c.(3148-3150)ccG>ccA	p.P1050P	RREB1_ENST00000349384.6_Silent_p.P1050P|RREB1_ENST00000379933.3_Silent_p.P1050P|RREB1_ENST00000334984.6_Silent_p.P1050P	NM_001003699.3|NM_001003700.1	NP_001003699.1|NP_001003700.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	1050	Pro-rich.				multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				CCAAGCCCCCGCTGCTTTTGC	0.637													18	30					0	0	1	0	0	A	7231482	G	A	7231482	2	1	81	1	0	0	0	0	0	0	0	1	13731	1074	38	1		1	RREB1	6	7231482	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	960	7231482	163883585	5026	8642											
RREB1	6239	broad.mit.edu	37	6	7231795	7231795	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:7231795C>T	ENST00000379938.2	+	10	4000	c.3463C>T	c.(3463-3465)Cgg>Tgg	p.R1155W	RREB1_ENST00000349384.6_Missense_Mutation_p.R1155W|RREB1_ENST00000379933.3_Missense_Mutation_p.R1155W|RREB1_ENST00000334984.6_Missense_Mutation_p.R1155W	NM_001003699.3|NM_001003700.1	NP_001003699.1|NP_001003700.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	1155					multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				GAAGAGGGGCCGGAAAAGGGG	0.677													9	11					0	0	1	0	0	T	7231795	C	T	7231795	3	4	81	1	0	0	0	0	1	0	0	0	13731	643	23	1	3489	1	RREB1	6	7231795	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	313	7231795	163883272	5027	8643											
RIOK1	83732	broad.mit.edu	37	6	7401281	7401281	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:7401281G>T	ENST00000379834.2	+	6	1078	c.571G>T	c.(571-573)Gaa>Taa	p.E191*		NM_031480.2|NM_153005.1	NP_113668.2|NP_694550.1	Q9BRS2	RIOK1_HUMAN	RIO kinase 1	191	Protein kinase.						ATP binding|protein serine/threonine kinase activity			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19	Ovarian(93;0.0418)					CACAGGAAAAGAAGTGAGCTC	0.338													13	30					1.52009e-12	1.903e-12	1	1	0	T	7401281	G	T	7401281	4	4	81	1	0	0	0	0	0	1	0	0	13429	943	33	4	593	4	RIOK1	6	7401281	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	169486	7401281	163713786	5028	8644											
RIOK1	83732	broad.mit.edu	37	6	7411575	7411575	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:7411575G>A	ENST00000379834.2	+	14	1787	c.1280G>A	c.(1279-1281)cGa>cAa	p.R427Q		NM_031480.2|NM_153005.1	NP_113668.2|NP_694550.1	Q9BRS2	RIOK1_HUMAN	RIO kinase 1	427	Protein kinase.						ATP binding|protein serine/threonine kinase activity			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19	Ovarian(93;0.0418)					GTGTTTAAGCGAGCATATATT	0.383													28	45					0	0	1	0	0	A	7411575	G	A	7411575	3	1	81	1	0	0	0	0	1	0	0	0	13429	1058	37	1	1334	1	RIOK1	6	7411575	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	10294	7411575	163703492	5029	8645											
DSP	1832	broad.mit.edu	37	6	7567605	7567605	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:7567605C>T	ENST00000379802.3	+	9	1404	c.1063C>T	c.(1063-1065)Cag>Tag	p.Q355*	DSP_ENST00000418664.2_Nonsense_Mutation_p.Q355*	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	355	Globular 1.|Interacts with plakophilin 1 and junction plakoglobin.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		GGACACTCTGCAGACGCAGTG	0.413													6	109					0	0	1	0	0	T	7567605	C	T	7567605	4	4	81	1	0	0	0	0	0	1	0	0	4807	711	25	2	1097	2	DSP	6	7567605	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	156030	7567605	163547462	5030	8646											
DSP	1832	broad.mit.edu	37	6	7580863	7580863	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:7580863C>A	ENST00000379802.3	+	23	4781	c.4440C>A	c.(4438-4440)aaC>aaA	p.N1480K	DSP_ENST00000418664.2_Intron	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	1480	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		AGGATAAAAACAAGGAGATAG	0.428													26	59					1.5548e-18	2.01812e-18	1	1	0	A	7580863	C	A	7580863	3	1	81	1	0	0	0	0	1	0	0	0	4807	477	17	5	4530	5	DSP	6	7580863	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	13258	7580863	163534204	5031	8647											
DSP	1832	broad.mit.edu	37	6	7581571	7581571	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:7581571G>C	ENST00000379802.3	+	23	5489	c.5148G>C	c.(5146-5148)gaG>gaC	p.E1716D	DSP_ENST00000418664.2_Intron	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	1716	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		TGACCAAGGAGCACTTGATGT	0.453													33	65					0	0	1	0	0	C	7581571	G	C	7581571	3	2	81	1	0	0	0	0	1	0	0	0	4807	962	34	4	5238	4	DSP	6	7581571	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	708	7581571	163533496	5032	8648											
DSP	1832	broad.mit.edu	37	6	7581603	7581603	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:7581603T>C	ENST00000379802.3	+	23	5521	c.5180T>C	c.(5179-5181)cTg>cCg	p.L1727P	DSP_ENST00000418664.2_Intron	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	1727	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		CTGCGGAACCTGAGGCTGGAG	0.473													53	58					0	0	1	0	0	C	7581603	T	C	7581603	3	2	81	1	0	0	0	0	1	0	0	0	4807	1580	55	3	5270	3	DSP	6	7581603	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	32	7581603	163533464	5033	8649											
DSP	1832	broad.mit.edu	37	6	7583532	7583532	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:7583532C>T	ENST00000379802.3	+	24	6378	c.6037C>T	c.(6037-6039)Cgg>Tgg	p.R2013W	DSP_ENST00000418664.2_Missense_Mutation_p.R1414W	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	2013	Globular 2.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		GCCATTCCTTCGGGGTGCAGG	0.453													18	34					0	0	1	0	0	T	7583532	C	T	7583532	3	4	81	1	0	0	0	0	1	0	0	0	4807	875	31	1	6131	1	DSP	6	7583532	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1929	7583532	163531535	5034	8650											
DSP	1832	broad.mit.edu	37	6	7583670	7583670	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:7583670A>C	ENST00000379802.3	+	24	6516	c.6175A>C	c.(6175-6177)Att>Ctt	p.I2059L	DSP_ENST00000418664.2_Missense_Mutation_p.I1460L	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	2059	Globular 2.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		AGGTGGTATAATTGATCCCCA	0.473													9	81					0	0	1	0	0	C	7583670	A	C	7583670	3	2	81	1	0	0	0	0	1	0	0	0	4807	101	4	4	6269	4	DSP	6	7583670	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	138	7583670	163531397	5035	8651											
DSP	1832	broad.mit.edu	37	6	7583868	7583868	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:7583868C>T	ENST00000379802.3	+	24	6714	c.6373C>T	c.(6373-6375)Ctg>Ttg	p.L2125L	DSP_ENST00000418664.2_Silent_p.L1526L	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	2125	Globular 2.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		AATGCGCCTGCTGGAAGCCCA	0.458													36	43					0	0	1	0	0	T	7583868	C	T	7583868	2	4	81	1	0	0	0	0	0	0	0	1	4807	796	28	2		2	DSP	6	7583868	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	198	7583868	163531199	5036	8652											
DSP	1832	broad.mit.edu	37	6	7584793	7584793	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:7584793G>A	ENST00000379802.3	+	24	7639	c.7298G>A	c.(7297-7299)tGc>tAc	p.C2433Y	DSP_ENST00000418664.2_Missense_Mutation_p.C1834Y	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	2433	Globular 2.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		AAAGAAAGATGCATTAAGGAT	0.413													14	86					0	0	1	0	0	A	7584793	G	A	7584793	3	1	81	1	0	0	0	0	1	0	0	0	4807	1319	46	2	7392	2	DSP	6	7584793	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	925	7584793	163530274	5037	8653											
BMP6	654	broad.mit.edu	37	6	7862681	7862681	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:7862681G>A	ENST00000283147.6	+	4	1313	c.1154G>A	c.(1153-1155)cGt>cAt	p.R385H		NM_001718.4	NP_001709.1	P22004	BMP6_HUMAN	bone morphogenetic protein 6	385					BMP signaling pathway|cartilage development|growth|immune response|positive regulation of aldosterone biosynthetic process|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription from RNA polymerase II promoter|SMAD protein signal transduction	extracellular space	BMP receptor binding|cytokine activity|growth factor activity|protein heterodimerization activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	23	Ovarian(93;0.0721)					CAACAGAGTCGTAATCGCTCT	0.597													13	41					0	0	1	0	0	A	7862681	G	A	7862681	3	1	81	1	0	0	0	0	1	0	0	0	1463	1145	40	1	1168	1	BMP6	6	7862681	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	277888	7862681	163252386	5038	8654											
TXNDC5	81567	broad.mit.edu	37	6	7891855	7891855	+	Splice_Site	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:7891855T>G	ENST00000539054.1	-	5	514	c.515A>C	c.(514-516)aAg>aCg	p.K172T	BLOC1S5-TXNDC5_ENST00000439343.2_3'UTR|TXNDC5_ENST00000473453.1_Splice_Site_p.K136T|TXNDC5_ENST00000379757.4_Splice_Site_p.K244T			Q8NBS9	TXND5_HUMAN	thioredoxin domain containing 5 (endoplasmic reticulum)		Thioredoxin 2.				anti-apoptosis|cell redox homeostasis|cellular membrane organization|glycerol ether metabolic process|post-Golgi vesicle-mediated transport	endoplasmic reticulum lumen|lysosomal lumen	electron carrier activity|isomerase activity|protein disulfide oxidoreductase activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|skin(2)	22	Ovarian(93;0.0398)					TTCACTCACCTTGCCAATCTT	0.498													5	42					0	0	1	0	0	G	7891855	T	G	7891855	5	3	81	1	0	0	0	0	0	0	1	0	16861	1623	56	5	591	5	TXNDC5	6	7891855	Splice_Site	SNP	T	TCGA-DU-6392-01A-11D-1705-08	29174	7891855	163223212	5039	8655											
SLC35B3	51000	broad.mit.edu	37	6	8428253	8428253	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:8428253G>T	ENST00000379660.4	-	4	785	c.336C>A	c.(334-336)ggC>ggA	p.G112G	SLC35B3_ENST00000426876.1_Silent_p.G178G|SLC35B3_ENST00000339306.5_Silent_p.G112G	NM_001142540.1|NM_001142541.1|NM_015948.3	NP_001136012.1|NP_001136013.1|NP_057032.2	Q9H1N7	S35B3_HUMAN	solute carrier family 35 (adenosine 3'-phospho 5'-phosphosulfate transporter), member B3	112					transmembrane transport	Golgi membrane|integral to membrane				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(1)|prostate(1)	15	Ovarian(93;0.0569)					TAAGGTACCAGCCACAGGACT	0.378													13	105					3.27435e-08	3.88014e-08	1	1	0	T	8428253	G	T	8428253	2	4	81	1	0	0	0	0	0	0	0	1	14632	958	34	4		4	SLC35B3	6	8428253	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	536398	8428253	162686814	5040	8656											
GCNT2	2651	broad.mit.edu	37	6	10556805	10556805	+	Missense_Mutation	SNP	C	C	T	rs55800934		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:10556805C>T	ENST00000316170.3	+	1	566	c.149C>T	c.(148-150)tCt>tTt	p.S50F	GCNT2_ENST00000410107.1_Intron|GCNT2_ENST00000397423.2_Intron|GCNT2_ENST00000495262.1_Intron|GCNT2_ENST00000379597.3_Intron	NM_001491.2	NP_001482.1	Q8N0V5	GNT2A_HUMAN	glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)	51						Golgi membrane|integral to membrane	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)	12	Ovarian(93;0.107)|Breast(50;0.148)	all_hematologic(90;0.107)		KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119)		GTTTGCACATCTTTTATCAAT	0.393													32	86					0	0	1	0	0	T	10556805	C	T	10556805	3	4	81	1	0	0	0	0	1	0	0	0	6341	913	32	2	1080	2	GCNT2	6	10556805	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2128552	10556805	160558262	5041	8657											
PAK1IP1	55003	broad.mit.edu	37	6	10697569	10697569	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:10697569G>A	ENST00000379568.3	+	2	388	c.97G>A	c.(97-99)Gtg>Atg	p.V33M		NM_017906.2	NP_060376.2	Q9NWT1	PK1IP_HUMAN	PAK1 interacting protein 1	33					negative regulation of signal transduction	nucleolus|plasma membrane				kidney(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(1)	12	Ovarian(93;0.107)|Breast(50;0.137)	all_hematologic(90;0.117)				ATGGACTCTTGTGGCTGACTT	0.438													25	164					0	0	1	0	0	A	10697569	G	A	10697569	3	1	81	1	0	0	0	0	1	0	0	0	11447	1377	48	2	103	2	PAK1IP1	6	10697569	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	140764	10697569	160417498	5042	8658											
GCM2	9247	broad.mit.edu	37	6	10874354	10874354	+	Silent	SNP	G	G	A	rs139538731	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:10874354G>A	ENST00000379491.4	-	5	1542	c.1395C>T	c.(1393-1395)caC>caT	p.H465H	SYCP2L_ENST00000543878.1_Intron|RP11-637O19.3_ENST00000480294.1_Intron	NM_004752.3	NP_004743.1	O75603	GCM2_HUMAN	glial cells missing homolog 2 (Drosophila)	465					cellular calcium ion homeostasis|cellular phosphate ion homeostasis|parathyroid gland development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|sequence-specific DNA binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	30	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)				AAACTGGCTCGTGGGGAATAG	0.572													9	18					0	0	1	0	0	A	10874354	G	A	10874354	2	1	81	1	0	0	0	0	0	0	0	1	6338	1136	40	1		1	GCM2	6	10874354	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	176785	10874354	160240713	5043	8659											
GCM2	9247	broad.mit.edu	37	6	10876185	10876185	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:10876185G>A	ENST00000379491.4	-	4	668	c.521C>T	c.(520-522)gCc>gTc	p.A174V	SYCP2L_ENST00000543878.1_Intron|RP11-637O19.3_ENST00000480294.1_Intron	NM_004752.3	NP_004743.1	O75603	GCM2_HUMAN	glial cells missing homolog 2 (Drosophila)	174					cellular calcium ion homeostasis|cellular phosphate ion homeostasis|parathyroid gland development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|sequence-specific DNA binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	30	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)				TCTCTTGATGGCGCTTCTTCT	0.463													45	71					0	0	1	0	0	A	10876185	G	A	10876185	3	1	81	1	0	0	0	0	1	0	0	0	6338	1203	42	2	1007	2	GCM2	6	10876185	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1831	10876185	160238882	5044	8660											
SYCP2L	221711	broad.mit.edu	37	6	10906267	10906267	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:10906267G>T	ENST00000283141.6	+	9	952	c.656G>T	c.(655-657)aGg>aTg	p.R219M	SYCP2L_ENST00000543878.1_Missense_Mutation_p.R60M|RP11-637O19.3_ENST00000480294.1_3'UTR	NM_001040274.2	NP_001035364.2	Q5T4T6	SYC2L_HUMAN	synaptonemal complex protein 2-like	219						nucleus				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	36	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	Epithelial(50;0.239)			GACCTTGCAAGGACACTCTTG	0.338													11	150					9.31168e-06	1.05369e-05	1	1	0	T	10906267	G	T	10906267	3	4	81	1	0	0	0	0	1	0	0	0	15490	1000	35	4	690	4	SYCP2L	6	10906267	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	30082	10906267	160208800	5045	8661											
NEDD9	4739	broad.mit.edu	37	6	11191146	11191146	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:11191146A>G	ENST00000379446.5	-	5	1122	c.956T>C	c.(955-957)gTc>gCc	p.V319A	RP3-510L9.1_ENST00000500636.2_RNA|NEDD9_ENST00000504387.1_Missense_Mutation_p.V319A	NM_001271033.1|NM_006403.3	NP_001257962.1|NP_006394.1	Q14511	CASL_HUMAN	neural precursor cell expressed, developmentally down-regulated 9	319					actin filament bundle assembly|cell adhesion|cell division|integrin-mediated signaling pathway|mitosis|regulation of growth	cell cortex|focal adhesion|Golgi apparatus|lamellipodium|nucleus	protein binding			endometrium(3)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	Breast(50;0.0768)|Ovarian(93;0.152)	all_hematologic(90;0.135)	Epithelial(50;0.0647)|all cancers(50;0.179)			GCCTCGGGGGACATCATATGC	0.577													24	38					0	0	1	0	0	G	11191146	A	G	11191146	3	3	81	1	0	0	0	0	1	0	0	0	10360	275	10	3	1560	3	NEDD9	6	11191146	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	284879	11191146	159923921	5046	8662											
HIVEP1	3096	broad.mit.edu	37	6	12120714	12120714	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:12120714C>A	ENST00000379388.2	+	4	1018	c.686C>A	c.(685-687)aCt>aAt	p.T229N		NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	229					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				CCAAATAAAACTGCACGTTCC	0.428													10	104					0.00621372	0.00649472	1	1	0	A	12120714	C	A	12120714	3	1	81	1	0	0	0	0	1	0	0	0	7227	565	20	4	696	4	HIVEP1	6	12120714	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	929568	12120714	158994353	5047	8663											
HIVEP1	3096	broad.mit.edu	37	6	12120776	12120776	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:12120776G>A	ENST00000379388.2	+	4	1080	c.748G>A	c.(748-750)Gaa>Aaa	p.E250K		NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	250					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				GACTTCACAGGAATTGGTTGC	0.423													52	94					0	0	1	0	0	A	12120776	G	A	12120776	3	1	81	1	0	0	0	0	1	0	0	0	7227	1175	41	2	758	2	HIVEP1	6	12120776	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	62	12120776	158994291	5048	8664											
HIVEP1	3096	broad.mit.edu	37	6	12122175	12122175	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:12122175C>T	ENST00000379388.2	+	4	2479	c.2147C>T	c.(2146-2148)aCg>aTg	p.T716M		NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	716			T -> A (in dbSNP:rs2228210).		transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				CTTGTCACCACGTCAACACCC	0.527													24	27					0	0	1	0	0	T	12122175	C	T	12122175	3	4	81	1	0	0	0	0	1	0	0	0	7227	536	19	1	2157	1	HIVEP1	6	12122175	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1399	12122175	158992892	5049	8665											
HIVEP1	3096	broad.mit.edu	37	6	12122570	12122570	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:12122570T>C	ENST00000379388.2	+	4	2874	c.2542T>C	c.(2542-2544)Tca>Cca	p.S848P		NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	848					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				CACAGGTTATTCAGCAGTACC	0.398													10	132					0	0	1	0	0	C	12122570	T	C	12122570	3	2	81	1	0	0	0	0	1	0	0	0	7227	1783	62	3	2552	3	HIVEP1	6	12122570	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	395	12122570	158992497	5050	8666											
HIVEP1	3096	broad.mit.edu	37	6	12123223	12123223	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:12123223C>A	ENST00000379388.2	+	4	3527	c.3195C>A	c.(3193-3195)ggC>ggA	p.G1065G		NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	1065					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				ATGCTCTGGGCTGTAATCCCA	0.403													27	61					1.50538e-07	1.76314e-07	1	1	0	A	12123223	C	A	12123223	2	1	81	1	0	0	0	0	0	0	0	1	7227	784	28	4		4	HIVEP1	6	12123223	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	653	12123223	158991844	5051	8667											
HIVEP1	3096	broad.mit.edu	37	6	12164453	12164453	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:12164453C>T	ENST00000379388.2	+	9	8248	c.7916C>T	c.(7915-7917)gCc>gTc	p.A2639V	HIVEP1_ENST00000541134.1_Missense_Mutation_p.A504V	NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	2639					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				GAGAAGGCTGCCTCGGCAAAT	0.517													8	19					0	0	1	0	0	T	12164453	C	T	12164453	3	4	81	1	0	0	0	0	1	0	0	0	7227	739	26	2	7946	2	HIVEP1	6	12164453	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	41230	12164453	158950614	5052	8668											
PHACTR1	221692	broad.mit.edu	37	6	13185034	13185034	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:13185034C>A	ENST00000379345.2	+	5	474	c.233C>A	c.(232-234)tCt>tAt	p.S78Y	PHACTR1_ENST00000379350.1_Intron|PHACTR1_ENST00000457702.2_Intron|PHACTR1_ENST00000332995.7_Intron			Q9C0D0	PHAR1_HUMAN	phosphatase and actin regulator 1	221						cell junction|cytoplasm|synapse	actin binding|protein phosphatase inhibitor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)			CCCTCAGTGTCTGAAGAGAGT	0.572													6	73					8.12818e-05	8.94031e-05	1	1	0	A	13185034	C	A	13185034	3	1	81	1	0	0	0	0	1	0	0	0	11857	928	32	4		4	PHACTR1	6	13185034	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1020581	13185034	157930033	5053	8669											
PHACTR1	221692	broad.mit.edu	37	6	13185202	13185202	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:13185202C>T	ENST00000379345.2	+	5	642	c.401C>T	c.(400-402)cCc>cTc	p.P134L	PHACTR1_ENST00000379350.1_Intron|PHACTR1_ENST00000457702.2_Intron|PHACTR1_ENST00000332995.7_Intron			Q9C0D0	PHAR1_HUMAN	phosphatase and actin regulator 1	512						cell junction|cytoplasm|synapse	actin binding|protein phosphatase inhibitor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)			GCCCTGCCTCCCAAACCCACT	0.562													17	20					0	0	1	0	0	T	13185202	C	T	13185202	3	4	81	1	0	0	0	0	1	0	0	0	11857	638	22	2		2	PHACTR1	6	13185202	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	168	13185202	157929865	5054	8670											
RANBP9	10048	broad.mit.edu	37	6	13657462	13657462	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:13657462C>T	ENST00000011619.3	-	4	841	c.783G>A	c.(781-783)tcG>tcA	p.S261S	RANBP9_ENST00000539980.1_Silent_p.S32S	NM_005493.2	NP_005484.2	Q96S59	RANB9_HUMAN	RAN binding protein 9	261	B30.2/SPRY.				axon guidance|microtubule nucleation|protein complex assembly	cytosol|microtubule associated complex|nucleus	Ran GTPase binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	16	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.117)	Epithelial(50;0.223)			AAGAACAAAACGAATGTCCAT	0.393													24	35					0	0	1	0	0	T	13657462	C	T	13657462	2	4	81	1	0	0	0	0	0	0	0	1	13084	523	19	1		1	RANBP9	6	13657462	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	472260	13657462	157457605	5055	8671											
CD83	9308	broad.mit.edu	37	6	14131769	14131769	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:14131769G>T	ENST00000379153.3	+	3	343	c.172G>T	c.(172-174)Gag>Tag	p.E58*		NM_001040280.1|NM_001251901.1|NM_004233.3	NP_001035370.1|NP_001238830.1|NP_004224.1	Q01151	CD83_HUMAN	CD83 molecule	58	Ig-like V-type.				defense response|humoral immune response|signal transduction	integral to plasma membrane				breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)	12	Breast(50;0.00245)|Ovarian(93;0.137)	all_hematologic(90;0.117)				GGGTGGTGAAGAGAGGATGGA	0.502													4	45					0.00909568	0.00944708	1	1	0	T	14131769	G	T	14131769	4	4	81	1	0	0	0	0	0	1	0	0	3063	943	33	4	182	4	CD83	6	14131769	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	474307	14131769	156983298	5056	8672											
CD83	9308	broad.mit.edu	37	6	14135456	14135456	+	Nonsense_Mutation	SNP	G	G	T	rs147096996	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:14135456G>T	ENST00000379153.3	+	5	778	c.607G>T	c.(607-609)Gaa>Taa	p.E203*		NM_001040280.1|NM_001251901.1|NM_004233.3	NP_001035370.1|NP_001238830.1|NP_004224.1	Q01151	CD83_HUMAN	CD83 molecule	203					defense response|humoral immune response|signal transduction	integral to plasma membrane				breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)	12	Breast(50;0.00245)|Ovarian(93;0.137)	all_hematologic(90;0.117)				TCACAAGACAGAACTGGTATG	0.488													5	54					1	1	1	1	0	T	14135456	G	T	14135456	4	4	81	1	0	0	0	0	0	1	0	0	3063	943	33	4	625	4	CD83	6	14135456	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	3687	14135456	156979611	5057	8673											
JARID2	3720	broad.mit.edu	37	6	15487706	15487706	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:15487706C>T	ENST00000341776.2	+	6	1083	c.839C>T	c.(838-840)gCc>gTc	p.A280V	JARID2_ENST00000397311.3_Missense_Mutation_p.A108V|JARID2_ENST00000541660.1_Missense_Mutation_p.A242V	NM_004973.3	NP_004964.2	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2	280					central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent		chromatin binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				GGTTCCTCGGCCAAGGGGCTT	0.652													15	22					0	0	1	0	0	T	15487706	C	T	15487706	3	4	81	1	0	0	0	0	1	0	0	0	7989	739	26	2	861	2	JARID2	6	15487706	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1352250	15487706	155627361	5058	8674											
DTNBP1	84062	broad.mit.edu	37	6	15524688	15524688	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:15524688G>A	ENST00000338950.5	-	9	985	c.880C>T	c.(880-882)Cgt>Tgt	p.R294C	DTNBP1_ENST00000462989.2_Intron|DTNBP1_ENST00000344537.5_Intron|DTNBP1_ENST00000355917.3_Intron	NM_183040.2	NP_898861.1	Q96EV8	DTBP1_HUMAN	dystrobrevin binding protein 1	0	Dysbindin.				actin cytoskeleton reorganization|cellular membrane organization|neuron projection morphogenesis|post-Golgi vesicle-mediated transport|regulation of dopamine receptor signaling pathway	axon part|BLOC-1 complex|cell junction|dendritic spine|endoplasmic reticulum membrane|endosome membrane|growth cone|melanosome membrane|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|synaptic vesicle membrane|synaptosome	identical protein binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|skin(2)	14	Breast(50;0.0289)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	Epithelial(50;0.211)			TGGTTCTCACGTCTCACCTTT	0.567									Hermansky-Pudlak syndrome				65	131					0	0	1	0	0	A	15524688	G	A	15524688	3	1	81	1	0	0	0	0	1	0	0	0	4816	1145	40	1	284	1	DTNBP1	6	15524688	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	36982	15524688	155590379	5059	8675											
DTNBP1	84062	broad.mit.edu	37	6	15615599	15615599	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:15615599C>A	ENST00000338950.5	-	6	492	c.387G>T	c.(385-387)gaG>gaT	p.E129D	DTNBP1_ENST00000344537.5_Missense_Mutation_p.E129D|DTNBP1_ENST00000355917.3_Missense_Mutation_p.E129D	NM_183040.2	NP_898861.1	Q96EV8	DTBP1_HUMAN	dystrobrevin binding protein 1	129					actin cytoskeleton reorganization|cellular membrane organization|neuron projection morphogenesis|post-Golgi vesicle-mediated transport|regulation of dopamine receptor signaling pathway	axon part|BLOC-1 complex|cell junction|dendritic spine|endoplasmic reticulum membrane|endosome membrane|growth cone|melanosome membrane|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|synaptic vesicle membrane|synaptosome	identical protein binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|skin(2)	14	Breast(50;0.0289)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	Epithelial(50;0.211)			GCAGGTTGTTCTCTACCTCCT	0.368									Hermansky-Pudlak syndrome				40	52					8.16904e-11	1.00477e-10	1	1	0	A	15615599	C	A	15615599	3	1	81	1	0	0	0	0	1	0	0	0	4816	912	32	4	789	4	DTNBP1	6	15615599	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	90911	15615599	155499468	5060	8676											
MYLIP	29116	broad.mit.edu	37	6	16145221	16145221	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:16145221T>C	ENST00000349606.4	+	5	882	c.378T>C	c.(376-378)ctT>ctC	p.L126L	MYLIP_ENST00000356840.3_Silent_p.L307L			Q8WY64	MYLIP_HUMAN	myosin regulatory light chain interacting protein	307	FERM.				cellular component movement|nervous system development	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28	Breast(50;0.0799)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	Epithelial(50;0.241)			ACATTAACCTTGGCAAGAAAT	0.463													46	63					0	0	1	0	0	C	16145221	T	C	16145221	2	2	81	1	0	0	0	0	0	0	0	1	10103	1799	63	3		3	MYLIP	6	16145221	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	529622	16145221	154969846	5061	8677											
MYLIP	29116	broad.mit.edu	37	6	16145386	16145386	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:16145386C>T	ENST00000349606.4	+	5	1047	c.543C>T	c.(541-543)agC>agT	p.S181S	MYLIP_ENST00000356840.3_Silent_p.S362S			Q8WY64	MYLIP_HUMAN	myosin regulatory light chain interacting protein	362	FERM.				cellular component movement|nervous system development	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28	Breast(50;0.0799)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	Epithelial(50;0.241)			ACTGCAGCAGCTGCGAGGGCC	0.572													7	103					0	0	1	0	0	T	16145386	C	T	16145386	2	4	81	1	0	0	0	0	0	0	0	1	10103	796	28	2		2	MYLIP	6	16145386	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	165	16145386	154969681	5062	8678											
ATXN1	6310	broad.mit.edu	37	6	16306647	16306647	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:16306647G>A	ENST00000244769.4	-	9	3297	c.2361C>T	c.(2359-2361)gaC>gaT	p.D787D	ATXN1_ENST00000436367.1_Silent_p.D787D	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN	ataxin 1	787	Interaction with USP7.				cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing	cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm	identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				AAGGTGGTTCGTCTTCTGACT	0.547													34	56					0	0	1	0	0	A	16306647	G	A	16306647	2	1	81	1	0	0	0	0	0	0	0	1	1207	1136	40	1		1	ATXN1	6	16306647	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	161261	16306647	154808420	5063	8679											
ATXN1	6310	broad.mit.edu	37	6	16327654	16327654	+	Silent	SNP	G	G	A	rs140153287		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:16327654G>A	ENST00000244769.4	-	8	1824	c.888C>T	c.(886-888)tcC>tcT	p.S296S	ATXN1_ENST00000436367.1_Silent_p.S296S	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN	ataxin 1	296					cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing	cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm	identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				AGTGGCTGCCGGAGTCGGCGT	0.657													21	24					0	0	1	0	0	A	16327654	G	A	16327654	2	1	81	1	0	0	0	0	0	0	0	1	1207	1103	39	1		1	ATXN1	6	16327654	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	21007	16327654	154787413	5064	8680											
FAM8A1	51439	broad.mit.edu	37	6	17601185	17601185	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:17601185C>T	ENST00000259963.3	+	1	600	c.545C>T	c.(544-546)gCc>gTc	p.A182V		NM_016255.2	NP_057339.1	Q9UBU6	FA8A1_HUMAN	family with sequence similarity 8, member A1	182						integral to membrane				endometrium(1)|large_intestine(2)|lung(3)	6	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.143)	all cancers(50;0.176)|Epithelial(50;0.204)			AGCCCCGGGGCCGCGGGGCCT	0.756													8	7					0	0	1	0	0	T	17601185	C	T	17601185	3	4	81	1	0	0	0	0	1	0	0	0	5680	739	26	2	547	2	FAM8A1	6	17601185	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1273531	17601185	153513882	5065	8681											
FAM8A1	51439	broad.mit.edu	37	6	17605235	17605235	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:17605235A>G	ENST00000259963.3	+	3	987	c.932A>G	c.(931-933)tAc>tGc	p.Y311C		NM_016255.2	NP_057339.1	Q9UBU6	FA8A1_HUMAN	family with sequence similarity 8, member A1	311	RDD.					integral to membrane				endometrium(1)|large_intestine(2)|lung(3)	6	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.143)	all cancers(50;0.176)|Epithelial(50;0.204)			GCACTTATATACAGATTATTA	0.284													5	58					0	0	1	0	0	G	17605235	A	G	17605235	3	3	81	1	0	0	0	0	1	0	0	0	5680	391	14	3	942	3	FAM8A1	6	17605235	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	4050	17605235	153509832	5066	8682											
NUP153	9972	broad.mit.edu	37	6	17624875	17624875	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:17624875G>A	ENST00000262077.2	-	20	4090	c.4091C>T	c.(4090-4092)aCa>aTa	p.T1364I	NUP153_ENST00000537253.1_Missense_Mutation_p.T1395I	NM_005124.2	NP_005115.2	P49790	NU153_HUMAN	nucleoporin 153kDa	1364					carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm	DNA binding|protein binding|transporter activity|zinc ion binding			NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)			GCTTGACACTGTCCCAAAAGT	0.507													5	68					0	0	1	0	0	A	17624875	G	A	17624875	3	1	81	1	0	0	0	0	1	0	0	0	10803	1377	48	2	348	2	NUP153	6	17624875	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	19640	17624875	153490192	5067	8683											
NUP153	9972	broad.mit.edu	37	6	17629558	17629558	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:17629558C>A	ENST00000262077.2	-	18	2871	c.2872G>T	c.(2872-2874)Gat>Tat	p.D958Y	NUP153_ENST00000537253.1_Missense_Mutation_p.D989Y	NM_005124.2	NP_005115.2	P49790	NU153_HUMAN	nucleoporin 153kDa	958					carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm	DNA binding|protein binding|transporter activity|zinc ion binding			NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)			AATTTAAAATCTCCTATTGGT	0.333													6	77					0.00116845	0.00124301	1	1	0	A	17629558	C	A	17629558	3	1	81	1	0	0	0	0	1	0	0	0	10803	913	32	4	1575	4	NUP153	6	17629558	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	4683	17629558	153485509	5068	8684											
NUP153	9972	broad.mit.edu	37	6	17629745	17629745	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:17629745C>T	ENST00000262077.2	-	18	2684	c.2685G>A	c.(2683-2685)tcG>tcA	p.S895S	NUP153_ENST00000537253.1_Silent_p.S926S	NM_005124.2	NP_005115.2	P49790	NU153_HUMAN	nucleoporin 153kDa	895					carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm	DNA binding|protein binding|transporter activity|zinc ion binding			NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)			CTGCTGAGTTCGAAGATGAGG	0.388													5	79					0	0	1	0	0	T	17629745	C	T	17629745	2	4	81	1	0	0	0	0	0	0	0	1	10803	871	31	1		1	NUP153	6	17629745	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	187	17629745	153485322	5069	8685											
NUP153	9972	broad.mit.edu	37	6	17688630	17688630	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:17688630C>T	ENST00000262077.2	-	2	330	c.331G>A	c.(331-333)Gaa>Aaa	p.E111K	NUP153_ENST00000537253.1_Missense_Mutation_p.E111K	NM_005124.2	NP_005115.2	P49790	NU153_HUMAN	nucleoporin 153kDa	111					carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm	DNA binding|protein binding|transporter activity|zinc ion binding			NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)			TACTTACCTTCTGTATTACTG	0.393													24	35					0	0	1	0	0	T	17688630	C	T	17688630	3	4	81	1	0	0	0	0	1	0	0	0	10803	922	32	2	4180	2	NUP153	6	17688630	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	58885	17688630	153426437	5070	8686											
NUP153	9972	broad.mit.edu	37	6	17706523	17706523	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:17706523C>T	ENST00000262077.2	-	1	95	c.96G>A	c.(94-96)ggG>ggA	p.G32G	NUP153_ENST00000537253.1_Silent_p.G32G|RP11-500C11.3_ENST00000606771.1_RNA	NM_005124.2	NP_005115.2	P49790	NU153_HUMAN	nucleoporin 153kDa	32					carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm	DNA binding|protein binding|transporter activity|zinc ion binding			NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)			GCTGTTGTCGCCCCTGCTGGT	0.726													7	16					0	0	1	0	0	T	17706523	C	T	17706523	2	4	81	1	0	0	0	0	0	0	0	1	10803	726	26	2		2	NUP153	6	17706523	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	17893	17706523	153408544	5071	8687											
KIF13A	63971	broad.mit.edu	37	6	17771432	17771432	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:17771432C>T	ENST00000259711.6	-	38	4599	c.4494G>A	c.(4492-4494)caG>caA	p.Q1498Q	KIF13A_ENST00000378816.5_Intron|KIF13A_ENST00000378826.2_Intron|KIF13A_ENST00000378843.2_Intron|KIF13A_ENST00000378814.5_Intron	NM_022113.5	NP_071396.4	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	1498					cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			GGTTATGTGCCTGAGGTGGAG	0.453													5	10					0	0	1	0	0	T	17771432	C	T	17771432	2	4	81	1	0	0	0	0	0	0	0	1	8316	680	24	2		2	KIF13A	6	17771432	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	64909	17771432	153343635	5072	8688											
KIF13A	63971	broad.mit.edu	37	6	17788044	17788044	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:17788044G>A	ENST00000378814.5	-	26	3284	c.3285C>T	c.(3283-3285)taC>taT	p.Y1095Y	KIF13A_ENST00000378816.5_Silent_p.Y1108Y|KIF13A_ENST00000378826.2_Silent_p.Y1108Y|KIF13A_ENST00000259711.6_Silent_p.Y1108Y|KIF13A_ENST00000378843.2_Silent_p.Y1095Y	NM_001105568.2	NP_001099038.1	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	1108					cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			GTTCATCCAGGTATTCTCGTC	0.398													50	66					0	0	1	0	0	A	17788044	G	A	17788044	2	1	81	1	0	0	0	0	0	0	0	1	8316	1256	44	2		2	KIF13A	6	17788044	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	16612	17788044	153327023	5073	8689											
KIF13A	63971	broad.mit.edu	37	6	17794856	17794856	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:17794856C>T	ENST00000378814.5	-	24	3021	c.3022G>A	c.(3022-3024)Gaa>Aaa	p.E1008K	KIF13A_ENST00000378816.5_Missense_Mutation_p.E1008K|KIF13A_ENST00000378826.2_Missense_Mutation_p.E1008K|KIF13A_ENST00000259711.6_Missense_Mutation_p.E1008K|KIF13A_ENST00000378843.2_Missense_Mutation_p.E1008K	NM_001105568.2	NP_001099038.1	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	1008					cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			TGATGAAGTTCCACTGCAGCA	0.388													10	17					0	0	1	0	0	T	17794856	C	T	17794856	3	4	81	1	0	0	0	0	1	0	0	0	8316	864	30	2	2484	2	KIF13A	6	17794856	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	6812	17794856	153320211	5074	8690											
KIF13A	63971	broad.mit.edu	37	6	17826109	17826109	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:17826109G>A	ENST00000378814.5	-	16	1675	c.1676C>T	c.(1675-1677)aCg>aTg	p.T559M	KIF13A_ENST00000378816.5_Missense_Mutation_p.T559M|KIF13A_ENST00000378826.2_Missense_Mutation_p.T559M|KIF13A_ENST00000259711.6_Missense_Mutation_p.T559M|KIF13A_ENST00000378843.2_Missense_Mutation_p.T559M	NM_001105568.2	NP_001099038.1	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	559					cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			TGGCGGGCCCGTTTCTTTTTC	0.423													41	88					0	0	1	0	0	A	17826109	G	A	17826109	3	1	81	1	0	0	0	0	1	0	0	0	8316	1145	40	1	3862	1	KIF13A	6	17826109	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	31253	17826109	153288958	5075	8691											
KIF13A	63971	broad.mit.edu	37	6	17850612	17850612	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:17850612C>T	ENST00000378814.5	-	8	658	c.659G>A	c.(658-660)cGc>cAc	p.R220H	KIF13A_ENST00000378816.5_Missense_Mutation_p.R220H|KIF13A_ENST00000378826.2_Missense_Mutation_p.R220H|KIF13A_ENST00000259711.6_Missense_Mutation_p.R220H|KIF13A_ENST00000378843.2_Missense_Mutation_p.R220H	NM_001105568.2	NP_001099038.1	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	220	Kinesin-motor.				cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			AGCATGGGAGCGGCTGCTTTC	0.468													21	30					0	0	1	0	0	T	17850612	C	T	17850612	3	4	81	1	0	0	0	0	1	0	0	0	8316	768	27	1	4911	1	KIF13A	6	17850612	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	24503	17850612	153264455	5076	8692											
KDM1B	221656	broad.mit.edu	37	6	18215283	18215283	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:18215283G>A	ENST00000388870.2	+	20	2399	c.2158G>A	c.(2158-2160)Gca>Aca	p.A720T	KDM1B_ENST00000546309.2_Missense_Mutation_p.A10T|KDM1B_ENST00000397244.1_Missense_Mutation_p.A488T|KDM1B_ENST00000297792.5_Missense_Mutation_p.A487T			Q8NB78	KDM1B_HUMAN	lysine (K)-specific demethylase 1B	719					multicellular organismal development|regulation of DNA methylation|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-monomethyl-K4 specific)|oxidoreductase activity|zinc ion binding			breast(2)|endometrium(5)|large_intestine(6)|lung(8)|skin(3)|upper_aerodigestive_tract(1)	25						GGAGGCTGTCGCATCCGTGAG	0.572													15	30					0	0	1	0	0	A	18215283	G	A	18215283	3	1	81	1	0	0	0	0	1	0	0	0	8167	1087	38	1	1513	1	KDM1B	6	18215283	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	364671	18215283	152899784	5077	8693											
DEK	7913	broad.mit.edu	37	6	18258281	18258281	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:18258281T>C	ENST00000397239.3	-	4	707	c.260A>G	c.(259-261)aAa>aGa	p.K87R	DEK_ENST00000244776.7_Missense_Mutation_p.K53R	NM_003472.3	NP_003463.1	P35659	DEK_HUMAN	DEK oncogene	87					chromatin modification|regulation of transcription from RNA polymerase II promoter|signal transduction|transcription from RNA polymerase II promoter|viral genome replication	nucleus	DNA binding|histone binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	7	Ovarian(93;0.00769)|Breast(50;0.0495)	all_hematologic(90;0.053)	OV - Ovarian serous cystadenocarcinoma(7;0.00291)|all cancers(50;0.031)|Epithelial(50;0.0332)			TTCACAAAGTTTCTGCCCCTT	0.318			T	NUP214	AML								4	38					0	0	1	0	0	C	18258281	T	C	18258281	3	2	81	1	0	0	0	0	1	0	0	0	4452	1841	64	3	899	3	DEK	6	18258281	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	42998	18258281	152856786	5078	8694											
RNF144B	255488	broad.mit.edu	37	6	18427916	18427916	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:18427916G>A	ENST00000259939.3	+	3	587	c.270G>A	c.(268-270)gaG>gaA	p.E90E	RNF144B_ENST00000429054.2_Intron	NM_182757.3	NP_877434.2	Q7Z419	R144B_HUMAN	ring finger protein 144B	90					apoptosis|positive regulation of anti-apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	integral to membrane|mitochondrial membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(7)	11	Ovarian(93;0.00365)|Breast(50;0.0145)	all_hematologic(90;0.0536)	OV - Ovarian serous cystadenocarcinoma(7;0.00165)|all cancers(50;0.0102)|Epithelial(50;0.0105)			AGGAAGCTGAGGTATGAATGA	0.458													3	24					0	0	1	0	0	A	18427916	G	A	18427916	5	1	81	1	0	0	0	0	0	0	1	0	13498	1014	35	2	276	2	RNF144B	6	18427916	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	169635	18427916	152687151	5079	8695											
RNF144B	255488	broad.mit.edu	37	6	18459946	18459946	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:18459946G>T	ENST00000259939.3	+	6	962	c.645G>T	c.(643-645)aaG>aaT	p.K215N	RNF144B_ENST00000429054.2_Missense_Mutation_p.K126N	NM_182757.3	NP_877434.2	Q7Z419	R144B_HUMAN	ring finger protein 144B	215					apoptosis|positive regulation of anti-apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	integral to membrane|mitochondrial membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(7)	11	Ovarian(93;0.00365)|Breast(50;0.0145)	all_hematologic(90;0.0536)	OV - Ovarian serous cystadenocarcinoma(7;0.00165)|all cancers(50;0.0102)|Epithelial(50;0.0105)			AAAACTGCAAGCATACATTTT	0.468													10	90					0.010729	0.0111384	1	1	0	T	18459946	G	T	18459946	3	4	81	1	0	0	0	0	1	0	0	0	13498	962	34	4	663	4	RNF144B	6	18459946	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	32030	18459946	152655121	5080	8696											
E2F3	1871	broad.mit.edu	37	6	20487011	20487011	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:20487011C>A	ENST00000346618.3	+	5	1042	c.976C>A	c.(976-978)Ctt>Att	p.L326I	E2F3_ENST00000535432.1_Missense_Mutation_p.L195I	NM_001949.4	NP_001940.1	O00716	E2F3_HUMAN	E2F transcription factor 3	326	Dimerization (Potential).				G1 phase of mitotic cell cycle|G2 phase of mitotic cell cycle|transcription initiation from RNA polymerase II promoter	transcription factor complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(3)	7	all_cancers(95;0.154)|all_epithelial(95;0.0585)|Breast(50;0.146)|Ovarian(93;0.148)		OV - Ovarian serous cystadenocarcinoma(7;0.0068)|all cancers(50;0.0148)|Epithelial(50;0.0562)			AGAAACAAGACTTGAAGTGCC	0.383													13	32					1.3612e-06	1.56842e-06	1	1	0	A	20487011	C	A	20487011	3	1	81	1	0	0	0	0	1	0	0	0	4894	565	20	4	994	4	E2F3	6	20487011	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2027065	20487011	150628056	5081	8697											
SOX4	6659	broad.mit.edu	37	6	21595157	21595157	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:21595157G>T	ENST00000244745.1	+	1	1186	c.392G>T	c.(391-393)aGg>aTg	p.R131M	SOX4_ENST00000543472.1_Missense_Mutation_p.R131M	NM_003107.2	NP_003098.1	Q06945	SOX4_HUMAN	SRY (sex determining region Y)-box 4	131					canonical Wnt receptor signaling pathway|cardiac ventricle formation|cellular response to glucose stimulus|DNA damage response, detection of DNA damage|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|glial cell development|glial cell proliferation|limb bud formation|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of protein export from nucleus|negative regulation of protein ubiquitination|neural tube formation|neuroepithelial cell differentiation|noradrenergic neuron differentiation|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|positive regulation of insulin secretion|positive regulation of N-terminal peptidyl-lysine acetylation|positive regulation of translation|pro-B cell differentiation|protein stabilization|skeletal system development|spinal cord motor neuron differentiation|sympathetic nervous system development|T cell differentiation	mitochondrion|nucleus	core promoter sequence-specific DNA binding|protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|RNA polymerase II transcription coactivator activity			kidney(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	6	Ovarian(93;0.163)		all cancers(50;0.0751)|Epithelial(50;0.155)			TACCGGCCCAGGAAGAAGGTG	0.637													4	11					0.000602214	0.000646338	1	1	0	T	21595157	G	T	21595157	3	4	81	1	0	0	0	0	1	0	0	0	15007	1000	35	4	394	4	SOX4	6	21595157	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1108146	21595157	149519910	5082	8698											
PRL	5617	broad.mit.edu	37	6	22294743	22294743	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:22294743G>A	ENST00000306482.1	-	2	617	c.99C>T	c.(97-99)ccC>ccT	p.P33P	RP3-404K8.2_ENST00000561912.1_RNA	NM_000948.5|NM_001163558.2	NP_000939.1|NP_001157030.1	P01236	PRL_HUMAN	prolactin	33					cell proliferation|cell surface receptor linked signaling pathway|female pregnancy|lactation|positive regulation of JAK-STAT cascade|regulation of multicellular organism growth	cytosol|extracellular region	hormone activity|prolactin receptor binding			NS(1)|endometrium(2)|large_intestine(6)|lung(6)|prostate(1)	16	Ovarian(93;0.163)					CAGCCCCGCCGGGACAGATGG	0.607													12	12					0	0	1	0	0	A	22294743	G	A	22294743	2	1	81	1	0	0	0	0	0	0	0	1	12580	1103	39	1		1	PRL	6	22294743	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	699586	22294743	148820324	5083	8699											
HDGFL1	154150	broad.mit.edu	37	6	22569978	22569978	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:22569978G>A	ENST00000510882.2	+	1	184	c.174G>A	c.(172-174)ccG>ccA	p.P58P	HDGFL1_ENST00000230012.3_Silent_p.P58P			Q5TGJ6	HDGL1_HUMAN	hepatoma derived growth factor-like 1	58	PWWP.									kidney(1)|large_intestine(3)|lung(7)	11	Ovarian(93;0.163)					GCCTGTTCCCGTACAAGGAGT	0.622													12	8					0	0	1	0	0	A	22569978	G	A	22569978	2	1	81	1	0	0	0	0	0	0	0	1	7060	1132	40	1		1	HDGFL1	6	22569978	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	275235	22569978	148545089	5084	8700											
NRSN1	140767	broad.mit.edu	37	6	24134670	24134670	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:24134670G>A	ENST00000378491.4	+	3	416	c.115G>A	c.(115-117)Gcc>Acc	p.A39T	NRSN1_ENST00000378475.1_Missense_Mutation_p.A39T|NRSN1_ENST00000378478.1_Missense_Mutation_p.A39T	NM_080723.4	NP_542454.3	Q8IZ57	NRSN1_HUMAN	neurensin 1	39					nervous system development	growth cone|integral to membrane|neuronal cell body|transport vesicle				breast(1)|endometrium(2)|large_intestine(2)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	22						GGACTGTACAGCCTCAATTTG	0.507													7	52					0	0	1	0	0	A	24134670	G	A	24134670	3	1	81	1	0	0	0	0	1	0	0	0	10710	971	34	2	117	2	NRSN1	6	24134670	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1564692	24134670	146980397	5085	8701											
GPLD1	2822	broad.mit.edu	37	6	24475410	24475410	+	Missense_Mutation	SNP	G	G	A	rs143874618		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:24475410G>A	ENST00000230036.1	-	5	490	c.380C>T	c.(379-381)gCg>gTg	p.A127V	GPLD1_ENST00000474784.1_5'UTR	NM_001503.3	NP_001494.2	P80108	PHLD_HUMAN	glycosylphosphatidylinositol specific phospholipase D1	127						extracellular region	glycosylphosphatidylinositol phospholipase D activity			breast(3)|endometrium(5)|kidney(1)|large_intestine(11)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	32						GACATCTGCCGCCATGTGAGA	0.438													21	48					0	0	1	0	0	A	24475410	G	A	24475410	3	1	81	1	0	0	0	0	1	0	0	0	6654	1087	38	1	2267	1	GPLD1	6	24475410	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	340740	24475410	146639657	5086	8702											
ALDH5A1	7915	broad.mit.edu	37	6	24515450	24515450	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:24515450G>A	ENST00000357578.3	+	5	927	c.782G>A	c.(781-783)cGa>cAa	p.R261Q	ALDH5A1_ENST00000546278.1_Missense_Mutation_p.R173Q|ALDH5A1_ENST00000348925.2_Missense_Mutation_p.R274Q|ALDH5A1_ENST00000491546.1_Missense_Mutation_p.R233Q	NM_001080.3	NP_001071.1	P51649	SSDH_HUMAN	aldehyde dehydrogenase 5 family, member A1	261					acetate metabolic process|central nervous system development|galactosylceramide metabolic process|gamma-aminobutyric acid catabolic process|glucose metabolic process|glutamate metabolic process|glutamine metabolic process|glutathione metabolic process|glycerophospholipid metabolic process|neurotransmitter catabolic process|neurotransmitter secretion|protein homotetramerization|respiratory electron transport chain|short-chain fatty acid metabolic process|succinate metabolic process	mitochondrial matrix|soluble fraction	succinate-semialdehyde dehydrogenase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(7)|skin(2)|urinary_tract(1)	20					Chlormerodrin(DB00534)|NADH(DB00157)|Succinic acid(DB00139)	CCCTGTTCTCGAAAGAATGCC	0.423													38	55					0	0	1	0	0	A	24515450	G	A	24515450	3	1	81	1	0	0	0	0	1	0	0	0	499	1058	37	1	843	1	ALDH5A1	6	24515450	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	40040	24515450	146599617	5087	8703											
C6orf62	81688	broad.mit.edu	37	6	24714603	24714603	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:24714603G>A	ENST00000378119.4	-	3	2539	c.372C>T	c.(370-372)atC>atT	p.I124I	C6orf62_ENST00000378102.3_Silent_p.I95I|C6orf62_ENST00000540769.1_Silent_p.I66I	NM_030939.4	NP_112201.1	Q9GZU0	CF062_HUMAN	chromosome 6 open reading frame 62	124						intracellular				endometrium(2)|kidney(3)|large_intestine(2)|lung(3)	10						GGAGACAGACGATTTTTTCAA	0.333													50	66					0	0	1	0	0	A	24714603	G	A	24714603	2	1	81	1	0	0	0	0	0	0	0	1	2383	1048	37	1		1	C6orf62	6	24714603	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	199153	24714603	146400464	5088	8704											
GMNN	51053	broad.mit.edu	37	6	24784318	24784318	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:24784318A>T	ENST00000230056.3	+	5	610	c.278A>T	c.(277-279)aAt>aTt	p.N93I	GMNN_ENST00000356509.3_Missense_Mutation_p.N93I	NM_015895.4	NP_056979.1	O75496	GEMI_HUMAN	geminin, DNA replication inhibitor	93	Necessary and sufficient for interaction with IDAS.				M/G1 transition of mitotic cell cycle|negative regulation of cell cycle|negative regulation of DNA replication|negative regulation of transcription, DNA-dependent	cytosol|nucleoplasm	histone deacetylase binding			endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(1)	10						attttaGAAAATCCATCCTCT	0.303													8	17					0	0	1	0	0	T	24784318	A	T	24784318	3	4	81	1	0	0	0	0	1	0	0	0	6535	101	4	4	292	4	GMNN	6	24784318	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	69715	24784318	146330749	5089	8705											
LRRC16A	55604	broad.mit.edu	37	6	25280063	25280063	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:25280063G>T	ENST00000329474.6	+	1	408	c.40G>T	c.(40-42)Gaa>Taa	p.E14*	LRRC16A_ENST00000377969.3_5'UTR	NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN	leucine rich repeat containing 16A	14					actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process	cytosol|lamellipodium|nucleus				breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						GGAGTTGATAGGTAAGATTCA	0.552													9	102					1.08611e-07	1.27405e-07	1	1	0	T	25280063	G	T	25280063	5	4	81	1	0	0	0	0	0	0	1	0	9016	1014	35	4	42	4	LRRC16A	6	25280063	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	495745	25280063	145835004	5090	8706											
LRRC16A	55604	broad.mit.edu	37	6	25471461	25471461	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:25471461T>C	ENST00000329474.6	+	10	1123	c.755T>C	c.(754-756)gTg>gCg	p.V252A	LRRC16A_ENST00000377969.3_Missense_Mutation_p.V91A	NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN	leucine rich repeat containing 16A	252					actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process	cytosol|lamellipodium|nucleus				breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						GAAGAATTGGTGTTGGAAAAT	0.363													28	47					0	0	1	0	0	C	25471461	T	C	25471461	3	2	81	1	0	0	0	0	1	0	0	0	9016	1696	59	3	793	3	LRRC16A	6	25471461	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	191398	25471461	145643606	5091	8707											
LRRC16A	55604	broad.mit.edu	37	6	25551155	25551155	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:25551155G>T	ENST00000329474.6	+	27	2714	c.2346G>T	c.(2344-2346)atG>atT	p.M782I		NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN	leucine rich repeat containing 16A	782					actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process	cytosol|lamellipodium|nucleus				breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						TTGAGTCCATGGTTGATGCTG	0.458													36	76					5.43694e-19	7.07028e-19	1	1	0	T	25551155	G	T	25551155	3	4	81	1	0	0	0	0	1	0	0	0	9016	1348	47	5	2452	5	LRRC16A	6	25551155	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	79694	25551155	145563912	5092	8708											
HIST1H2BA	255626	broad.mit.edu	37	6	25727362	25727362	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:25727362G>T	ENST00000274764.2	+	1	226	c.226G>T	c.(226-228)Gcg>Tcg	p.A76S		NM_170610.2	NP_733759.1	Q96A08	H2B1A_HUMAN	histone cluster 1, H2ba	76					nucleosome assembly	nucleosome|nucleus	DNA binding			breast(1)|kidney(1)	2						TGAGCGTATAGCGAGCGAGGC	0.507													19	32					6.33239e-15	8.06005e-15	1	1	0	T	25727362	G	T	25727362	3	4	81	1	0	0	0	0	1	0	0	0	7181	971	34	4	228	4	HIST1H2BA	6	25727362	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	176207	25727362	145387705	5093	8709											
SLC17A4	10050	broad.mit.edu	37	6	25777163	25777163	+	Missense_Mutation	SNP	T	T	C	rs150527531		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:25777163T>C	ENST00000377905.4	+	10	1363	c.1244T>C	c.(1243-1245)gTt>gCt	p.V415A	SLC17A4_ENST00000397076.2_Missense_Mutation_p.V213A|SLC17A4_ENST00000439485.2_Missense_Mutation_p.V185A	NM_005495.2	NP_005486.1	Q9Y2C5	S17A4_HUMAN	solute carrier family 17, member 4	415					phosphate metabolic process	integral to plasma membrane|membrane fraction	sodium:phosphate symporter activity			breast(4)|endometrium(1)|kidney(4)|large_intestine(3)|lung(21)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						GGAGCCCTTGTTAACTTCTTG	0.498													33	39					0	0	1	0	0	C	25777163	T	C	25777163	3	2	81	1	0	0	0	0	1	0	0	0	14474	1725	60	3	1278	3	SLC17A4	6	25777163	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	49801	25777163	145337904	5094	8710											
TRIM38	10475	broad.mit.edu	37	6	25983700	25983700	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:25983700G>T	ENST00000357085.3	+	8	1659	c.1183G>T	c.(1183-1185)Gca>Tca	p.A395S	TRIM38_ENST00000349458.3_Missense_Mutation_p.A395S	NM_006355.3	NP_006346.1	O00635	TRI38_HUMAN	tripartite motif containing 38	395	B30.2/SPRY.				positive regulation of I-kappaB kinase/NF-kappaB cascade	intracellular	signal transducer activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	23						AGGCTATGTAGCACTTACTTC	0.493													35	62					7.93934e-33	1.061e-32	1	1	0	T	25983700	G	T	25983700	3	4	81	1	0	0	0	0	1	0	0	0	16573	971	34	4	1205	4	TRIM38	6	25983700	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	206537	25983700	145131367	5095	8711											
HIST1H2AB	8335	broad.mit.edu	37	6	26033407	26033407	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:26033407C>G	ENST00000259791.2	-	1	389	c.390G>C	c.(388-390)aaG>aaC	p.K130N		NM_003513.2	NP_003504.2	P04908	H2A1B_HUMAN	histone cluster 1, H2ab	130					nucleosome assembly	nucleosome|nucleus	DNA binding			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8						TAACTCTTCACTTTCCCTTGG	0.488													14	33					0	0	1	0	0	G	26033407	C	G	26033407	3	3	81	1	0	0	0	0	1	0	0	0	7170	564	20	4	6	4	HIST1H2AB	6	26033407	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	49707	26033407	145081660	5096	8712											
HFE	3077	broad.mit.edu	37	6	26091280	26091280	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:26091280C>T	ENST00000357618.5	+	2	410	c.288C>T	c.(286-288)caC>caT	p.H96H	HFE_ENST00000470149.1_Silent_p.H96H|HFE_ENST00000349999.4_Intron|HFE_ENST00000317896.7_Silent_p.H96H|HFE_ENST00000353147.5_Intron|HFE_ENST00000309234.6_Silent_p.H96H|HFE_ENST00000336625.8_Silent_p.H96H|HFE_ENST00000352392.4_Intron|HFE_ENST00000488199.1_Intron|HFE_ENST00000461397.1_Silent_p.H96H|HFE_ENST00000397022.3_Silent_p.H73H	NM_000410.3|NM_139006.2	NP_000401.1|NP_620575.1	Q30201	HFE_HUMAN	hemochromatosis	96	Alpha-1.				antigen processing and presentation of peptide antigen via MHC class I|cellular iron ion homeostasis|immune response|iron ion transport|protein complex assembly|receptor-mediated endocytosis	apical part of cell|basal part of cell|cytoplasmic vesicle|early endosome|integral to plasma membrane|MHC class I protein complex|perinuclear region of cytoplasm|recycling endosome	protein binding			endometrium(3)|large_intestine(3)|liver(2)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GGTGGGATCACATGTTCACTG	0.507									Hemochromatosis				7	60					0	0	1	0	0	T	26091280	C	T	26091280	2	4	81	1	0	0	0	0	0	0	0	1	7122	477	17	2		2	HFE	6	26091280	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	57873	26091280	145023787	5097	8713	39	2									
HFE	3077	broad.mit.edu	37	6	26091284	26091284	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:26091284T>C	ENST00000357618.5	+	2	414	c.292T>C	c.(292-294)Ttc>Ctc	p.F98L	HFE_ENST00000470149.1_Missense_Mutation_p.F98L|HFE_ENST00000349999.4_Intron|HFE_ENST00000317896.7_Missense_Mutation_p.F98L|HFE_ENST00000353147.5_Intron|HFE_ENST00000309234.6_Missense_Mutation_p.F98L|HFE_ENST00000336625.8_Missense_Mutation_p.F98L|HFE_ENST00000352392.4_Intron|HFE_ENST00000488199.1_Intron|HFE_ENST00000461397.1_Missense_Mutation_p.F98L|HFE_ENST00000397022.3_Missense_Mutation_p.F75L	NM_000410.3|NM_139006.2	NP_000401.1|NP_620575.1	Q30201	HFE_HUMAN	hemochromatosis	98	Alpha-1.				antigen processing and presentation of peptide antigen via MHC class I|cellular iron ion homeostasis|immune response|iron ion transport|protein complex assembly|receptor-mediated endocytosis	apical part of cell|basal part of cell|cytoplasmic vesicle|early endosome|integral to plasma membrane|MHC class I protein complex|perinuclear region of cytoplasm|recycling endosome	protein binding			endometrium(3)|large_intestine(3)|liver(2)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GGATCACATGTTCACTGTTGA	0.507									Hemochromatosis				24	49					0	0	1	0	0	C	26091284	T	C	26091284	3	2	81	1	0	0	0	0	1	0	0	0	7122	1725	60	3	298	3	HFE	6	26091284	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	4	26091284	145023783	5098	8714	39	2									
HIST1H1E	3008	broad.mit.edu	37	6	26156764	26156764	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:26156764C>T	ENST00000304218.3	+	1	206	c.146C>T	c.(145-147)gCc>gTc	p.A49V		NM_005321.2	NP_005312.1	P10412	H14_HUMAN	histone cluster 1, H1e	49	H15.				nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding			NS(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	26						AAAGCTGTTGCCGCCTCCAAG	0.607													8	33					0	0	1	0	0	T	26156764	C	T	26156764	3	4	81	1	0	0	0	0	1	0	0	0	7167	739	26	2	148	2	HIST1H1E	6	26156764	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	65480	26156764	144958303	5099	8715											
HIST1H4E	8367	broad.mit.edu	37	6	26205090	26205090	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:26205090A>G	ENST00000360441.4	+	1	233	c.218A>G	c.(217-219)tAc>tGc	p.Y73C		NM_003545.3	NP_003536.1	P62805	H4_HUMAN	histone cluster 1, H4e	73					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	18		all_hematologic(11;0.196)				GCTGTGACTTACACGGAGCAC	0.557													3	52					0	0	1	0	0	G	26205090	A	G	26205090	3	3	81	1	0	0	0	0	1	0	0	0	7210	391	14	3	220	3	HIST1H4E	6	26205090	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	48326	26205090	144909977	5100	8716											
HIST1H2BG	8339	broad.mit.edu	37	6	26216597	26216597	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:26216597G>A	ENST00000244601.3	-	1	275	c.275C>T	c.(274-276)tCc>tTc	p.S92F		NM_003518.3	NP_003509.1	P62807	H2B1C_HUMAN	histone cluster 1, H2bg	92					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding	p.S92C(1)		endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	8		all_hematologic(11;0.196)				GATCTCCCTGGAGGTAATGGT	0.582													7	74					0	0	1	0	0	A	26216597	G	A	26216597	3	1	81	1	0	0	0	0	1	0	0	0	7187	1174	41	2	109	2	HIST1H2BG	6	26216597	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	11507	26216597	144898470	5101	8717											
BTN2A2	10385	broad.mit.edu	37	6	26385353	26385353	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:26385353C>T	ENST00000356709.4	+	3	316	c.205C>T	c.(205-207)Cgg>Tgg	p.R69W	BTN2A2_ENST00000469230.1_Missense_Mutation_p.R69W|BTN2A2_ENST00000416795.2_Missense_Mutation_p.R69W|BTN2A2_ENST00000352867.2_Intron|BTN2A2_ENST00000432533.2_Missense_Mutation_p.R69W|BTN2A2_ENST00000482536.1_Intron	NM_001197240.1|NM_006995.4	NP_001184169.1|NP_008926.2	Q8WVV5	BT2A2_HUMAN	butyrophilin, subfamily 2, member A2	69	Ig-like V-type.				negative regulation of activated T cell proliferation|negative regulation of cellular metabolic process|negative regulation of cytokine secretion	integral to membrane				breast(2)|endometrium(3)|large_intestine(5)|lung(13)	23						CATGGAGGTGCGGTGGTTCCG	0.547													13	27					0	0	1	0	0	T	26385353	C	T	26385353	3	4	81	1	0	0	0	0	1	0	0	0	1564	759	27	1	211	1	BTN2A2	6	26385353	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	168756	26385353	144729714	5102	8718											
BTN2A2	10385	broad.mit.edu	37	6	26392884	26392884	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:26392884G>A	ENST00000356709.4	+	8	1372	c.1261G>A	c.(1261-1263)Gag>Aag	p.E421K	BTN2A2_ENST00000469230.1_Intron|BTN2A2_ENST00000416795.2_Missense_Mutation_p.E421K|BTN2A2_ENST00000352867.2_Missense_Mutation_p.E305K|BTN2A2_ENST00000432533.2_3'UTR|BTN2A2_ENST00000482536.1_Missense_Mutation_p.E211K	NM_001197240.1|NM_006995.4	NP_001184169.1|NP_008926.2	Q8WVV5	BT2A2_HUMAN	butyrophilin, subfamily 2, member A2	421	B30.2/SPRY.				negative regulation of activated T cell proliferation|negative regulation of cellular metabolic process|negative regulation of cytokine secretion	integral to membrane				breast(2)|endometrium(3)|large_intestine(5)|lung(13)	23						CTGGACCCTGGAGATGTTTGG	0.562													16	35					0	0	1	0	0	A	26392884	G	A	26392884	3	1	81	1	0	0	0	0	1	0	0	0	1564	1175	41	2	1287	2	BTN2A2	6	26392884	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	7531	26392884	144722183	5103	8719											
BTN3A1	11119	broad.mit.edu	37	6	26408056	26408056	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:26408056C>T	ENST00000414912.2	+	4	745	c.435C>T	c.(433-435)gaC>gaT	p.D145D	BTN3A1_ENST00000425234.2_Silent_p.D197D|BTN3A1_ENST00000289361.6_Silent_p.D197D|BTN3A1_ENST00000476549.2_Silent_p.D197D			O00481	BT3A1_HUMAN	butyrophilin, subfamily 3, member A1	197	Ig-like V-type 2.				lipid metabolic process	integral to membrane				breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						TGGTTGCAGACGGAGTGGGCC	0.562													5	94					0	0	1	0	0	T	26408056	C	T	26408056	5	4	81	1	0	0	0	0	0	0	1	0	1565	550	19	1	601	1	BTN3A1	6	26408056	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	15172	26408056	144707011	5104	8720											
BTN3A3	10384	broad.mit.edu	37	6	26451903	26451903	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:26451903C>T	ENST00000244519.2	+	11	1262	c.1019C>T	c.(1018-1020)gCg>gTg	p.A340V	BTN3A3_ENST00000361232.3_Splice_Site_p.A291V|BTN3A3_ENST00000339789.4_Splice_Site_p.A298V	NM_006994.4	NP_008925.1	O00478	BT3A3_HUMAN	butyrophilin, subfamily 3, member A3	340	B30.2/SPRY.					integral to membrane				cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30						CTCTCTGCAGCGGATGTGATT	0.562													10	13					0	0	1	0	0	T	26451903	C	T	26451903	5	4	81	1	0	0	0	0	0	0	1	0	1567	782	27	1	1053	1	BTN3A3	6	26451903	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	43847	26451903	144663164	5105	8721											
BTN2A1	11120	broad.mit.edu	37	6	26463635	26463635	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:26463635C>T	ENST00000429381.1	+	4	806	c.594C>T	c.(592-594)gaC>gaT	p.D198D	BTN2A1_ENST00000469185.1_Silent_p.D198D|BTN2A1_ENST00000312541.5_Silent_p.D198D|BTN2A1_ENST00000541522.1_Silent_p.D137D			Q7KYR7	BT2A1_HUMAN	butyrophilin, subfamily 2, member A1	198					lipid metabolic process	integral to plasma membrane				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(3)	27						CTGATGCAGACGGCCTCTTCA	0.557													46	58					0	0	1	0	0	T	26463635	C	T	26463635	2	4	81	1	0	0	0	0	0	0	0	1	1563	535	19	1		1	BTN2A1	6	26463635	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	11732	26463635	144651432	5106	8722											
BTN2A1	11120	broad.mit.edu	37	6	26465472	26465472	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:26465472C>A	ENST00000429381.1	+	5	984	c.772C>A	c.(772-774)Ctg>Atg	p.L258M	BTN2A1_ENST00000469185.1_Missense_Mutation_p.L258M|BTN2A1_ENST00000312541.5_Missense_Mutation_p.L258M|BTN2A1_ENST00000541522.1_Missense_Mutation_p.L197M			Q7KYR7	BT2A1_HUMAN	butyrophilin, subfamily 2, member A1	258					lipid metabolic process	integral to plasma membrane				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(3)	27						TGTGGTTATTCTGATGATACC	0.428													43	88					1.7489e-18	2.26942e-18	1	1	0	A	26465472	C	A	26465472	3	1	81	1	0	0	0	0	1	0	0	0	1563	912	32	4	786	4	BTN2A1	6	26465472	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1837	26465472	144649595	5107	8723											
HIST1H2BJ	8970	broad.mit.edu	37	6	27100169	27100169	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:27100169T>C	ENST00000607124.1	-	1	360	c.361A>G	c.(361-363)Aag>Gag	p.K121E	HIST1H2BJ_ENST00000339812.2_Missense_Mutation_p.K121E|HIST1H2BJ_ENST00000541790.1_Missense_Mutation_p.K121E			P06899	H2B1J_HUMAN	histone cluster 1, H2bj	121					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding			breast(1)|kidney(2)|lung(5)|ovary(1)|prostate(1)	10						CTGGTGTACTTGGTGACGGCC	0.562													19	36					0	0	1	0	0	C	27100169	T	C	27100169	3	2	81	1	0	0	0	0	1	0	0	0	7190	1821	63	3	23	3	HIST1H2BJ	6	27100169	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	634697	27100169	144014898	5108	8724											
HIST1H1B	3009	broad.mit.edu	37	6	27834869	27834869	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:27834869C>T	ENST00000331442.3	-	1	490	c.439G>A	c.(439-441)Ggg>Agg	p.G147R		NM_005322.2	NP_005313.1	P16401	H15_HUMAN	histone cluster 1, H1b	147					nucleosome assembly	nucleosome|nucleus	DNA binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(12)|prostate(2)|upper_aerodigestive_tract(2)	24						TTTTTCGCCCCTGCAGCCTTC	0.637													6	182					0	0	1	0	0	T	27834869	C	T	27834869	3	4	81	1	0	0	0	0	1	0	0	0	7164	681	24	2	245	2	HIST1H1B	6	27834869	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	734700	27834869	143280198	5109	8725											
HIST1H3I	8354	broad.mit.edu	37	6	27839709	27839709	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:27839709G>A	ENST00000328488.2	-	1	390	c.385C>T	c.(385-387)Cgc>Tgc	p.R129C		NM_003533.2	NP_003524.1	P68431	H31_HUMAN	histone cluster 1, H3i	129					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			endometrium(2)|kidney(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						CGGATGCGGCGCGCAAGCTGG	0.532													97	141					0	0	1	0	0	A	27839709	G	A	27839709	3	1	81	1	0	0	0	0	1	0	0	0	7204	1087	38	1	29	1	HIST1H3I	6	27839709	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	4840	27839709	143275358	5110	8726											
OR2B2	81697	broad.mit.edu	37	6	27880070	27880070	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:27880070G>A	ENST00000303324.2	-	1	104	c.28C>T	c.(28-30)Cag>Tag	p.Q10*		NM_033057.2	NP_149046.2	Q9GZK3	OR2B2_HUMAN	olfactory receptor, family 2, subfamily B, member 2	10					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(4)|large_intestine(5)|lung(10)|prostate(1)|urinary_tract(1)	22						ATGAACTCCTGTGGGACACTC	0.368													35	43					0	0	1	0	0	A	27880070	G	A	27880070	4	1	81	1	0	0	0	0	0	1	0	0	11037	1386	48	2	1049	2	OR2B2	6	27880070	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	40361	27880070	143234997	5111	8727											
ZNF165	7718	broad.mit.edu	37	6	28053407	28053407	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:28053407A>G	ENST00000377325.1	+	2	705	c.149A>G	c.(148-150)cAg>cGg	p.Q50R		NM_003447.3	NP_003438.1	P49910	ZN165_HUMAN	zinc finger protein 165	50					viral reproduction	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CTCTGCAGGCAGCTTTTTAGG	0.522													65	116					0	0	1	0	0	G	28053407	A	G	28053407	3	3	81	1	0	0	0	0	1	0	0	0	17798	188	7	3	151	3	ZNF165	6	28053407	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	173337	28053407	143061660	5112	8728											
ZSCAN16	80345	broad.mit.edu	37	6	28093347	28093347	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:28093347A>G	ENST00000340487.4	+	2	275	c.126A>G	c.(124-126)caA>caG	p.Q42Q	ZSCAN16-AS1_ENST00000600652.1_RNA|ZSCAN16-AS1_ENST00000602810.1_RNA	NM_025231.1	NP_079507.1	Q9H4T2	ZSC16_HUMAN	zinc finger and SCAN domain containing 16	42	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(5)|liver(1)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						TCTATAGACAACACTTCAGGA	0.522													15	255					0	0	1	0	0	G	28093347	A	G	28093347	2	3	81	1	0	0	0	0	0	0	0	1	18270	40	2	3		3	ZSCAN16	6	28093347	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	39940	28093347	143021720	5113	8729											
PGBD1	84547	broad.mit.edu	37	6	28268753	28268753	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:28268753G>A	ENST00000405948.2	+	7	1542	c.1122G>A	c.(1120-1122)caG>caA	p.Q374Q	PGBD1_ENST00000259883.3_Silent_p.Q374Q	NM_001184743.1|NM_032507.3	NP_001171672.1|NP_115896.1	Q96JS3	PGBD1_HUMAN	piggyBac transposable element derived 1	374					viral reproduction	membrane|nucleus	scavenger receptor activity|sequence-specific DNA binding transcription factor activity			endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						CTGAGATCCAGCCTGCTCAAA	0.433													26	44					0	0	1	0	0	A	28268753	G	A	28268753	2	1	81	1	0	0	0	0	0	0	0	1	11828	962	34	2		2	PGBD1	6	28268753	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	175406	28268753	142846314	5114	8730											
PGBD1	84547	broad.mit.edu	37	6	28268879	28268879	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:28268879G>A	ENST00000405948.2	+	7	1668	c.1248G>A	c.(1246-1248)aaG>aaA	p.K416K	PGBD1_ENST00000259883.3_Silent_p.K416K	NM_001184743.1|NM_032507.3	NP_001171672.1|NP_115896.1	Q96JS3	PGBD1_HUMAN	piggyBac transposable element derived 1	416					viral reproduction	membrane|nucleus	scavenger receptor activity|sequence-specific DNA binding transcription factor activity			endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						AGAGCGAAAAGTTGAACCCAG	0.353													7	113					0	0	1	0	0	A	28268879	G	A	28268879	2	1	81	1	0	0	0	0	0	0	0	1	11828	1020	36	2		2	PGBD1	6	28268879	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	126	28268879	142846188	5115	8731											
PGBD1	84547	broad.mit.edu	37	6	28269043	28269043	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:28269043G>T	ENST00000405948.2	+	7	1832	c.1412G>T	c.(1411-1413)aGg>aTg	p.R471M	PGBD1_ENST00000259883.3_Missense_Mutation_p.R471M	NM_001184743.1|NM_032507.3	NP_001171672.1|NP_115896.1	Q96JS3	PGBD1_HUMAN	piggyBac transposable element derived 1	471					viral reproduction	membrane|nucleus	scavenger receptor activity|sequence-specific DNA binding transcription factor activity			endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						GGATTTATGAGGCATCCTAGA	0.398													12	143					4.3838e-07	5.09097e-07	1	1	0	T	28269043	G	T	28269043	3	4	81	1	0	0	0	0	1	0	0	0	11828	1000	35	4	1434	4	PGBD1	6	28269043	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	164	28269043	142846024	5116	8732											
PGBD1	84547	broad.mit.edu	37	6	28269621	28269621	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:28269621G>A	ENST00000405948.2	+	7	2410	c.1990G>A	c.(1990-1992)Gaa>Aaa	p.E664K	PGBD1_ENST00000259883.3_Missense_Mutation_p.E664K	NM_001184743.1|NM_032507.3	NP_001171672.1|NP_115896.1	Q96JS3	PGBD1_HUMAN	piggyBac transposable element derived 1	664					viral reproduction	membrane|nucleus	scavenger receptor activity|sequence-specific DNA binding transcription factor activity			endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						TATGAATGTAGAACATATGAA	0.383													37	53					0	0	1	0	0	A	28269621	G	A	28269621	3	1	81	1	0	0	0	0	1	0	0	0	11828	943	33	2	2012	2	PGBD1	6	28269621	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	578	28269621	142845446	5117	8733											
ZKSCAN3	80317	broad.mit.edu	37	6	28327415	28327415	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:28327415G>T	ENST00000377255.3	+	3	349	c.52G>T	c.(52-54)Gac>Tac	p.D18Y	ZKSCAN3_ENST00000252211.2_Missense_Mutation_p.D18Y|ZKSCAN3_ENST00000341464.5_Intron	NM_001242894.1	NP_001229823.1	Q9BRR0	ZKSC3_HUMAN	zinc finger with KRAB and SCAN domains 3	18					positive regulation of transcription, DNA-dependent|viral reproduction	nucleus	chromatin binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			kidney(4)|large_intestine(3)|lung(8)|pancreas(1)|skin(2)|stomach(2)|urinary_tract(1)	21						GTCTACAGAAGACCAGATGGA	0.547													5	107					0.00116845	0.00124301	1	1	0	T	28327415	G	T	28327415	3	4	81	1	0	0	0	0	1	0	0	0	17746	942	33	4	54	4	ZKSCAN3	6	28327415	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	57794	28327415	142787652	5118	8734											
ZNF311	282890	broad.mit.edu	37	6	28964268	28964268	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:28964268G>T	ENST00000377179.3	-	7	1023	c.511C>A	c.(511-513)Ctc>Atc	p.L171I	ZNF311_ENST00000483450.1_5'UTR	NM_001010877.2	NP_001010877.2	Q5JNZ3	ZN311_HUMAN	zinc finger protein 311	171					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(2)	28						ACTTTTAGGAGACTGTTAAAT	0.388													22	64					9.95505e-16	1.27256e-15	1	1	0	T	28964268	G	T	28964268	3	4	81	1	0	0	0	0	1	0	0	0	17891	942	33	4	1493	4	ZNF311	6	28964268	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	636853	28964268	142150799	5119	8735											
OR2J3	442186	broad.mit.edu	37	6	29079847	29079847	+	Silent	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:29079847A>T	ENST00000377169.1	+	1	180	c.180A>T	c.(178-180)acA>acT	p.T60T		NM_001005216.2	NP_001005216.2	O76001	OR2J3_HUMAN	olfactory receptor, family 2, subfamily J, member 3	60					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24						ATCTGCACACACCAATGTACT	0.453													10	233					0	0	1	0	0	T	29079847	A	T	29079847	2	4	81	1	0	0	0	0	0	0	0	1	11052	146	6	5		5	OR2J3	6	29079847	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	115579	29079847	142035220	5120	8736	40	2									
OR2J3	442186	broad.mit.edu	37	6	29079850	29079850	+	Silent	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:29079850A>C	ENST00000377169.1	+	1	183	c.183A>C	c.(181-183)ccA>ccC	p.P61P		NM_001005216.2	NP_001005216.2	O76001	OR2J3_HUMAN	olfactory receptor, family 2, subfamily J, member 3	61					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24						TGCACACACCAATGTACTTCT	0.458													11	227					0	0	1	0	0	C	29079850	A	C	29079850	2	2	81	1	0	0	0	0	0	0	0	1	11052	117	5	5		5	OR2J3	6	29079850	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	3	29079850	142035217	5121	8737	40	2									
OR5V1	81696	broad.mit.edu	37	6	29323529	29323529	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:29323529G>T	ENST00000377154.1	-	4	743	c.444C>A	c.(442-444)tgC>tgA	p.C148*	OR5V1_ENST00000543825.1_Nonsense_Mutation_p.C148*			Q9UGF6	OR5V1_HUMAN	olfactory receptor, family 5, subfamily V, member 1	148					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(3)|large_intestine(3)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						CAGCAGCCCAGCATGAGGCTG	0.433													6	70					0.217242	0.218703	1	1	0	T	29323529	G	T	29323529	4	4	81	1	0	0	0	0	0	1	0	0	11231	963	34	4	524	4	OR5V1	6	29323529	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	243679	29323529	141791538	5122	8738											
OR12D2	26529	broad.mit.edu	37	6	29365287	29365287	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:29365287C>T	ENST00000383555.2	+	1	872	c.811C>T	c.(811-813)Cgg>Tgg	p.R271W	OR5V1_ENST00000377154.1_Intron	NM_013936.3	NP_039224.2	P58182	O12D2_HUMAN	olfactory receptor, family 12, subfamily D, member 2 (gene/pseudogene)	271					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	31						GGACCAGGACCGGATTGTTGC	0.468													13	150					0	0	1	0	0	T	29365287	C	T	29365287	3	4	81	1	0	0	0	0	1	0	0	0	10979	643	23	1	813	1	OR12D2	6	29365287	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	41758	29365287	141749780	5123	8739											
OR11A1	26531	broad.mit.edu	37	6	29394836	29394836	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:29394836C>T	ENST00000377149.1	-	5	1055	c.583G>A	c.(583-585)Gtg>Atg	p.V195M	OR11A1_ENST00000377147.2_Missense_Mutation_p.V195M|OR11A1_ENST00000377148.1_Missense_Mutation_p.V195M|OR5V1_ENST00000377154.1_Intron			Q9GZK7	O11A1_HUMAN	olfactory receptor, family 11, subfamily A, member 1	195					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|large_intestine(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	19						ACCTGAGCCACTCTGGGATCC	0.522													4	31					0	0	1	0	0	T	29394836	C	T	29394836	3	4	81	1	0	0	0	0	1	0	0	0	10972	565	20	2	368	2	OR11A1	6	29394836	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	29549	29394836	141720231	5124	8740											
UBD	10537	broad.mit.edu	37	6	29523970	29523970	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:29523970C>T	ENST00000377050.4	-	2	408	c.185G>A	c.(184-186)aGc>aAc	p.S62N	GABBR1_ENST00000355973.3_3'UTR	NM_006398.3	NP_006389.2	O15205	UBD_HUMAN	ubiquitin D	62	Ubiquitin 1.				aggresome assembly|myeloid dendritic cell differentiation|negative regulation of mitotic prometaphase|positive regulation of apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein ubiquitination|response to interferon-gamma|response to tumor necrosis factor|ubiquitin-dependent protein catabolic process	aggresome|cytoplasm|nucleus	proteasome binding			kidney(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6						AGATGAGAGGCTTCTCCGTGG	0.483													18	23					0	0	1	0	0	T	29523970	C	T	29523970	3	4	81	1	0	0	0	0	1	0	0	0	16904	797	28	2	316	2	UBD	6	29523970	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	129134	29523970	141591097	5125	8741											
GABBR1	2550	broad.mit.edu	37	6	29577076	29577076	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:29577076C>T	ENST00000377034.4	-	15	2124	c.1789G>A	c.(1789-1791)Gtt>Att	p.V597I	GABBR1_ENST00000377016.4_Missense_Mutation_p.V535I|GABBR1_ENST00000377012.4_Missense_Mutation_p.V480I|GABBR1_ENST00000355973.3_Missense_Mutation_p.V480I|GABBR1_ENST00000376977.3_Intron	NM_001470.2	NP_001461.1	Q9UBS5	GABR1_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 1	597					gamma-aminobutyric acid signaling pathway|negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|extracellular region|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity			endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47					Baclofen(DB00181)|Progabide(DB00837)	CTGGAGAGAACTGAGACGGAG	0.517													17	34					0	0	1	0	0	T	29577076	C	T	29577076	3	4	81	1	0	0	0	0	1	0	0	0	6190	565	20	2	1132	2	GABBR1	6	29577076	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	53106	29577076	141537991	5126	8742											
GABBR1	2550	broad.mit.edu	37	6	29589570	29589570	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:29589570C>T	ENST00000377034.4	-	10	1425	c.1090G>A	c.(1090-1092)Gga>Aga	p.G364R	GABBR1_ENST00000377016.4_Missense_Mutation_p.G302R|GABBR1_ENST00000377012.4_Missense_Mutation_p.G247R|GABBR1_ENST00000355973.3_Missense_Mutation_p.G247R|GABBR1_ENST00000376977.3_Missense_Mutation_p.G364R	NM_001470.2	NP_001461.1	Q9UBS5	GABR1_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 1	364					gamma-aminobutyric acid signaling pathway|negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|extracellular region|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity			endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47					Baclofen(DB00181)|Progabide(DB00837)	TAGAAAAGTCCCACGATGATT	0.527													18	39					0	0	1	0	0	T	29589570	C	T	29589570	3	4	81	1	0	0	0	0	1	0	0	0	6190	632	22	2	1851	2	GABBR1	6	29589570	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	12494	29589570	141525497	5127	8743											
GABBR1	2550	broad.mit.edu	37	6	29591181	29591181	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:29591181T>C	ENST00000377034.4	-	8	1199	c.864A>G	c.(862-864)ccA>ccG	p.P288P	GABBR1_ENST00000377016.4_Silent_p.P226P|GABBR1_ENST00000377012.4_Silent_p.P171P|GABBR1_ENST00000355973.3_Silent_p.P171P|GABBR1_ENST00000376977.3_Silent_p.P288P	NM_001470.2	NP_001461.1	Q9UBS5	GABR1_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 1	288					gamma-aminobutyric acid signaling pathway|negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|extracellular region|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity			endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47					Baclofen(DB00181)|Progabide(DB00837)	GTGTGGCTGATGGGTGCGTTC	0.562													9	21					0	0	1	0	0	C	29591181	T	C	29591181	2	2	81	1	0	0	0	0	0	0	0	1	6190	1451	51	3		3	GABBR1	6	29591181	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	1611	29591181	141523886	5128	8744											
HLA-A	3105	broad.mit.edu	37	6	29912306	29912306	+	Missense_Mutation	SNP	G	G	A	rs45542447		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:29912306G>A	ENST00000396634.1	+	7	1266	c.925G>A	c.(925-927)Gtg>Atg	p.V309M	HLA-A_ENST00000376802.2_Intron|HLA-A_ENST00000376809.5_Missense_Mutation_p.V309M|HLA-A_ENST00000376806.5_Missense_Mutation_p.V309M			P30443	1A01_HUMAN	major histocompatibility complex, class I, A	309					antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						CATCCCCATCGTGGGCATCAT	0.597									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)			4	48					0	0	1	0	0	A	29912306	G	A	29912306	3	1	81	1	0	0	0	0	1	0	0	0	7236	1145	40	1	943	1	HLA-A	6	29912306	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	321125	29912306	141202761	5129	8745											
TRIM40	135644	broad.mit.edu	37	6	30114957	30114957	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:30114957G>A	ENST00000396581.1	+	4	1023	c.637G>A	c.(637-639)Gcc>Acc	p.A213T	TRIM40_ENST00000307859.4_Missense_Mutation_p.A184T|TRIM40_ENST00000376724.2_Missense_Mutation_p.A213T			Q6P9F5	TRI40_HUMAN	tripartite motif containing 40	213						intracellular	zinc ion binding			ovary(1)	1						GGAAAGGACGGCCAAGGAATT	0.572													8	86					0	0	1	0	0	A	30114957	G	A	30114957	3	1	81	1	0	0	0	0	1	0	0	0	16576	1203	42	2	560	2	TRIM40	6	30114957	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	202651	30114957	141000110	5130	8746											
TRIM10	10107	broad.mit.edu	37	6	30122144	30122144	+	Missense_Mutation	SNP	G	G	A	rs146058085	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:30122144G>A	ENST00000449742.2	-	7	1123	c.1048C>T	c.(1048-1050)Cgg>Tgg	p.R350W	TRIM10_ENST00000376704.3_Missense_Mutation_p.R350W	NM_006778.3	NP_006769.2	Q9UDY6	TRI10_HUMAN	tripartite motif containing 10	350	B30.2/SPRY.					cytoplasm	zinc ion binding			ovary(1)	1						CAGGTGGCCCGGTCAAAACGT	0.607													8	23					0	0	1	0	0	A	30122144	G	A	30122144	3	1	81	1	0	0	0	0	1	0	0	0	16547	1115	39	1	489	1	TRIM10	6	30122144	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	7187	30122144	140992923	5131	8747											
RPP21	79897	broad.mit.edu	37	6	30313002	30313002	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:30313002C>A	ENST00000428040.2	+	1	67	c.54C>A	c.(52-54)taC>taA	p.Y18*	TRIM39-RPP21_ENST00000513556.1_Intron|RPP21_ENST00000466327.1_3'UTR|RPP21_ENST00000436442.2_Nonsense_Mutation_p.Y18*|RPP21_ENST00000433076.2_Nonsense_Mutation_p.Y18*|RPP21_ENST00000442966.2_Nonsense_Mutation_p.Y18*					ribonuclease P/MRP 21kDa subunit											endometrium(2)|ovary(1)|prostate(1)	4						ACTTCCTGTACCAGGTGAGTC	0.711													4	4					0.00909568	0.00944708	1	1	0	A	30313002	C	A	30313002	4	1	81	1	0	0	0	0	0	1	0	0	13662	518	18	5	56	5	RPP21	6	30313002	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	190858	30313002	140802065	5132	8748											
HLA-E	3133	broad.mit.edu	37	6	30459017	30459017	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:30459017G>A	ENST00000376630.4	+	4	779	c.714G>A	c.(712-714)tgG>tgA	p.W238*		NM_005516.5	NP_005507.3	P13747	HLAE_HUMAN	major histocompatibility complex, class I, E	238	Alpha-3.|Ig-like C1-type.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex	MHC class I receptor activity			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(2)|lung(1)|ovary(3)|skin(1)|urinary_tract(1)	18						CACTGACCTGGCAGCAGGATG	0.632													31	53					0	0	1	0	0	A	30459017	G	A	30459017	4	1	81	1	0	0	0	0	0	1	0	0	7251	1212	42	2	728	2	HLA-E	6	30459017	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	146015	30459017	140656050	5133	8749											
ABCF1	23	broad.mit.edu	37	6	30553102	30553102	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:30553102C>A	ENST00000326195.8	+	15	1569	c.1457C>A	c.(1456-1458)gCt>gAt	p.A486D	ABCF1_ENST00000376545.3_Missense_Mutation_p.A448D|ABCF1_ENST00000396515.4_Intron	NM_001025091.1	NP_001020262.1	Q8NE71	ABCF1_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 1	486	ABC transporter 1.				inflammatory response|translational initiation	nuclear envelope|nucleoplasm|polysomal ribosome	ATP binding|ATPase activity|protein binding|ribosome binding|translation activator activity|translation factor activity, nucleic acid binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|skin(2)	21						GACCTCAACGCTGTCATCTGG	0.557													7	40					0.0293803	0.0300537	1	1	0	A	30553102	C	A	30553102	3	1	81	1	0	0	0	0	1	0	0	0	65	797	28	4	1515	4	ABCF1	6	30553102	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	94085	30553102	140561965	5134	8750											
PPP1R10	5514	broad.mit.edu	37	6	30570286	30570286	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:30570286C>T	ENST00000376511.2	-	19	2692	c.2140G>A	c.(2140-2142)Gaa>Aaa	p.E714K		NM_002714.3	NP_002705.2	Q96QC0	PP1RA_HUMAN	protein phosphatase 1, regulatory subunit 10	714	Gly-rich.				protein import into nucleus|transcription, DNA-dependent	PTW/PP1 phosphatase complex	DNA binding|protein phosphatase inhibitor activity|RNA binding|zinc ion binding			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1)	25						ggaggaggTTCGTTTCCTCCT	0.682													5	14					0	0	1	0	0	T	30570286	C	T	30570286	3	4	81	1	0	0	0	0	1	0	0	0	12401	893	31	1	690	1	PPP1R10	6	30570286	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	17184	30570286	140544781	5135	8751											
PPP1R10	5514	broad.mit.edu	37	6	30571787	30571787	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:30571787C>T	ENST00000376511.2	-	14	2058	c.1506G>A	c.(1504-1506)gaG>gaA	p.E502E		NM_002714.3	NP_002705.2	Q96QC0	PP1RA_HUMAN	protein phosphatase 1, regulatory subunit 10	502	Interaction with WDR82 (By similarity).				protein import into nucleus|transcription, DNA-dependent	PTW/PP1 phosphatase complex	DNA binding|protein phosphatase inhibitor activity|RNA binding|zinc ion binding			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1)	25						CTGCTCACCTCTCCTTGTTCA	0.542													9	163					0	0	1	0	0	T	30571787	C	T	30571787	2	4	81	1	0	0	0	0	0	0	0	1	12401	912	32	2		2	PPP1R10	6	30571787	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1501	30571787	140543280	5136	8752											
C6orf136	221545	broad.mit.edu	37	6	30617356	30617356	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:30617356C>A	ENST00000293604.6	+	2	830	c.637C>A	c.(637-639)Cta>Ata	p.L213I	C6orf136_ENST00000376471.4_Intron|C6orf136_ENST00000493705.1_3'UTR|C6orf136_ENST00000376473.5_Missense_Mutation_p.L32I	NM_001161376.1	NP_001154848.1	Q5SQH8	CF136_HUMAN	chromosome 6 open reading frame 136	32										endometrium(1)|large_intestine(2)|lung(6)|ovary(1)	10						TCCAGGGACTCTACCATTCCC	0.547													15	208					6.49762e-13	8.15126e-13	1	1	0	A	30617356	C	A	30617356	3	1	81	1	0	0	0	0	1	0	0	0	2345	912	32	4	643	4	C6orf136	6	30617356	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	45569	30617356	140497711	5137	8753											
DHX16	8449	broad.mit.edu	37	6	30623075	30623075	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:30623075C>A	ENST00000376442.3	-	18	2895	c.2700G>T	c.(2698-2700)gaG>gaT	p.E900D	DHX16_ENST00000376437.5_Missense_Mutation_p.E419D	NM_001164239.1|NM_003587.4	NP_001157711.1|NP_003578.2	O60231	DHX16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 16	900					mRNA processing|RNA splicing	nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity			kidney(2)|ovary(2)	4						GTACAAAGTTCTCATAGCACC	0.512													26	54					1.66031e-10	2.03454e-10	1	1	0	A	30623075	C	A	30623075	3	1	81	1	0	0	0	0	1	0	0	0	4530	912	32	4	437	4	DHX16	6	30623075	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	5719	30623075	140491992	5138	8754											
NRM	11270	broad.mit.edu	37	6	30656463	30656463	+	Missense_Mutation	SNP	C	C	T	rs139617550		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:30656463C>T	ENST00000259953.4	-	5	1115	c.764G>A	c.(763-765)cGg>cAg	p.R255Q	NRM_ENST00000376420.5_Missense_Mutation_p.R196Q|NRM_ENST00000470733.1_5'UTR|NRM_ENST00000376421.5_Missense_Mutation_p.R255Q	NM_007243.2	NP_009174.1	Q8IXM6	NRM_HUMAN	nurim (nuclear envelope membrane protein)	255						integral to membrane|nuclear inner membrane				large_intestine(1)|lung(2)	3						ATCCTGGGGCCGAGAGAGCAG	0.572													18	31					0	0	1	0	0	T	30656463	C	T	30656463	3	4	81	1	0	0	0	0	1	0	0	0	10705	652	23	1	28	1	NRM	6	30656463	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	33388	30656463	140458604	5139	8755											
MDC1	9656	broad.mit.edu	37	6	30671864	30671864	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:30671864T>G	ENST00000376406.3	-	10	5743	c.5096A>C	c.(5095-5097)gAa>gCa	p.E1699A	MDC1-AS1_ENST00000442150.1_RNA|MDC1_ENST00000376405.2_Missense_Mutation_p.E1435A	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	1699	Required for nuclear localization (NLS2).				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|kidney(1)|ovary(1)	4						AGATTGGAATTCAGGGGTGGT	0.557								Other conserved DNA damage response genes					6	79					0	0	1	0	0	G	30671864	T	G	30671864	3	3	81	1	0	0	0	0	1	0	0	0	9453	1783	62	5	1197	5	MDC1	6	30671864	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	15401	30671864	140443203	5140	8756											
MDC1	9656	broad.mit.edu	37	6	30671921	30671921	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:30671921T>C	ENST00000376406.3	-	10	5686	c.5039A>G	c.(5038-5040)cAg>cGg	p.Q1680R	MDC1-AS1_ENST00000442150.1_RNA|MDC1_ENST00000376405.2_Missense_Mutation_p.Q1416R	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	1680					cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|kidney(1)|ovary(1)	4						TGTTTTGCTCTGACCACCCTG	0.542								Other conserved DNA damage response genes					37	53					0	0	1	0	0	C	30671921	T	C	30671921	3	2	81	1	0	0	0	0	1	0	0	0	9453	1580	55	3	1254	3	MDC1	6	30671921	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	57	30671921	140443146	5141	8757											
MDC1	9656	broad.mit.edu	37	6	30672521	30672521	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:30672521C>A	ENST00000376406.3	-	10	5086	c.4439G>T	c.(4438-4440)aGa>aTa	p.R1480I	MDC1-AS1_ENST00000442150.1_RNA|MDC1_ENST00000376405.2_Missense_Mutation_p.R1216I	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	1480	Interaction with the PRKDC complex.				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|kidney(1)|ovary(1)	4						GACAGAGGATCTATCTGTTCT	0.587								Other conserved DNA damage response genes					12	146					0.00185496	0.00197056	1	1	0	A	30672521	C	A	30672521	3	1	81	1	0	0	0	0	1	0	0	0	9453	913	32	4	1854	4	MDC1	6	30672521	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	600	30672521	140442546	5142	8758											
MDC1	9656	broad.mit.edu	37	6	30675488	30675488	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:30675488C>A	ENST00000376406.3	-	8	3515	c.2868G>T	c.(2866-2868)caG>caT	p.Q956H	MDC1-AS1_ENST00000442150.1_RNA|MDC1_ENST00000376405.2_Intron	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	956				Missing (in Ref. 2; CAH18685).	cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|kidney(1)|ovary(1)	4						CTTTCTGGTCCTGGCTCCCTC	0.622								Other conserved DNA damage response genes					6	71					5.9392e-07	6.87481e-07	1	1	0	A	30675488	C	A	30675488	3	1	81	1	0	0	0	0	1	0	0	0	9453	680	24	4	3433	4	MDC1	6	30675488	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2967	30675488	140439579	5143	8759											
MDC1	9656	broad.mit.edu	37	6	30679881	30679881	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:30679881G>A	ENST00000376406.3	-	5	2485	c.1838C>T	c.(1837-1839)gCt>gTt	p.A613V	MDC1-AS1_ENST00000442150.1_RNA|MDC1_ENST00000376405.2_Missense_Mutation_p.A613V	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	613					cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|kidney(1)|ovary(1)	4						CTTAAGAACAGCTGCAGCCCA	0.582								Other conserved DNA damage response genes					6	29					0	0	1	0	0	A	30679881	G	A	30679881	3	1	81	1	0	0	0	0	1	0	0	0	9453	971	34	2	4475	2	MDC1	6	30679881	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	4393	30679881	140435186	5144	8760											
MDC1	9656	broad.mit.edu	37	6	30680174	30680174	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:30680174G>T	ENST00000376406.3	-	5	2192	c.1545C>A	c.(1543-1545)gcC>gcA	p.A515A	MDC1-AS1_ENST00000442150.1_RNA|MDC1_ENST00000376405.2_Silent_p.A515A	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	515	Required for nuclear localization (NLS1).				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|kidney(1)|ovary(1)	4						CTGTGGTGGAGGCTTGGCTTC	0.512								Other conserved DNA damage response genes					46	64					2.13384e-23	2.81181e-23	1	1	0	T	30680174	G	T	30680174	2	4	81	1	0	0	0	0	0	0	0	1	9453	987	35	4		4	MDC1	6	30680174	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	293	30680174	140434893	5145	8761											
MDC1	9656	broad.mit.edu	37	6	30680666	30680666	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:30680666C>A	ENST00000376406.3	-	5	1700	c.1053G>T	c.(1051-1053)aaG>aaT	p.K351N	MDC1-AS1_ENST00000442150.1_RNA|MDC1_ENST00000376405.2_Missense_Mutation_p.K351N	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	351	Required for nuclear localization (NLS1).				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|kidney(1)|ovary(1)	4						CATGGAAGATCTTCCTCTTCT	0.542								Other conserved DNA damage response genes					30	49					2.47511e-08	2.94284e-08	1	1	0	A	30680666	C	A	30680666	3	1	81	1	0	0	0	0	1	0	0	0	9453	912	32	4	5260	4	MDC1	6	30680666	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	492	30680666	140434401	5146	8762											
TUBB	203068	broad.mit.edu	37	6	30690417	30690417	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:30690417C>T	ENST00000396389.1	+	2	700	c.107C>T	c.(106-108)gCc>gTc	p.A36V	TUBB_ENST00000327892.8_Missense_Mutation_p.A54V|TUBB_ENST00000330914.3_5'UTR|TUBB_ENST00000435534.1_Missense_Mutation_p.A54V|TUBB_ENST00000396384.1_5'UTR			P07437	TBB5_HUMAN	tubulin, beta class I	54					cellular component movement|G2/M transition of mitotic cell cycle|microtubule-based movement|natural killer cell mediated cytotoxicity|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|MHC class I protein binding			breast(1)|endometrium(1)|kidney(8)|large_intestine(3)|lung(1)|ovary(1)|urinary_tract(1)	16					Colchicine(DB01394)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)	TACAATGAAGCCACAGGTAAG	0.582													10	7					0	0	1	0	0	T	30690417	C	T	30690417	3	4	81	1	0	0	0	0	1	0	0	0	16814	739	26	2	167	2	TUBB	6	30690417	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	9751	30690417	140424650	5147	8763											
TUBB	203068	broad.mit.edu	37	6	30691217	30691217	+	Silent	SNP	C	C	T	rs147158826		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:30691217C>T	ENST00000396389.1	+	4	917	c.324C>T	c.(322-324)agC>agT	p.S108S	XXbac-BPG252P9.9_ENST00000607476.1_RNA|TUBB_ENST00000327892.8_Silent_p.S126S|TUBB_ENST00000330914.3_Silent_p.S54S|TUBB_ENST00000435534.1_Intron|TUBB_ENST00000396384.1_Silent_p.S54S			P07437	TBB5_HUMAN	tubulin, beta class I	126					cellular component movement|G2/M transition of mitotic cell cycle|microtubule-based movement|natural killer cell mediated cytotoxicity|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|MHC class I protein binding			breast(1)|endometrium(1)|kidney(8)|large_intestine(3)|lung(1)|ovary(1)|urinary_tract(1)	16					Colchicine(DB01394)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)	AGGCAGAGAGCTGTGACTGCC	0.592													16	26					0	0	1	0	0	T	30691217	C	T	30691217	2	4	81	1	0	0	0	0	0	0	0	1	16814	796	28	2		2	TUBB	6	30691217	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	800	30691217	140423850	5148	8764											
IER3	8870	broad.mit.edu	37	6	30711721	30711721	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:30711721C>T	ENST00000259874.5	-	2	498	c.463G>A	c.(463-465)Gcc>Acc	p.A155T	IER3_ENST00000376377.2_3'UTR	NM_003897.3	NP_003888.2	P46695	IEX1_HUMAN	immediate early response 3	155					anatomical structure morphogenesis|anti-apoptosis|apoptosis	integral to membrane	protein binding			NS(1)	1						AGTTAGAAGGCGGCCGGGTGT	0.592													14	32					0	0	1	0	0	T	30711721	C	T	30711721	3	4	81	1	0	0	0	0	1	0	0	0	7550	768	27	1	11	1	IER3	6	30711721	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	20504	30711721	140403346	5149	8765											
DDR1	780	broad.mit.edu	37	6	30860315	30860315	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:30860315C>T	ENST00000324771.8	+	10	1643	c.1095C>T	c.(1093-1095)atC>atT	p.I365I	DDR1_ENST00000376570.4_Silent_p.I365I|DDR1_ENST00000446312.1_3'UTR|DDR1_ENST00000376569.3_Silent_p.I365I|DDR1_ENST00000376568.3_Silent_p.I365I|DDR1_ENST00000361741.4_Silent_p.I96I|DDR1_ENST00000376575.3_Silent_p.I365I|DDR1_ENST00000513240.1_Silent_p.I365I|DDR1_ENST00000376567.2_Silent_p.I365I|DDR1_ENST00000508312.1_Silent_p.I383I|DDR1_ENST00000454612.2_Silent_p.I365I|DDR1_ENST00000418800.2_Silent_p.I365I|DDR1_ENST00000452441.1_Silent_p.I365I			Q08345	DDR1_HUMAN	discoidin domain receptor tyrosine kinase 1	365					cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(1)|prostate(1)|skin(1)	29					Imatinib(DB00619)	TCTCCTTCATCTCTGGTAAGC	0.537													27	42					0	0	1	0	0	T	30860315	C	T	30860315	2	4	81	1	0	0	0	0	0	0	0	1	4359	903	32	2		2	DDR1	6	30860315	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	148594	30860315	140254752	5150	8766											
VARS2	57176	broad.mit.edu	37	6	30889947	30889947	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:30889947C>A	ENST00000321897.5	+	19	2493	c.1861C>A	c.(1861-1863)Ctt>Att	p.L621I	VARS2_ENST00000416670.2_Missense_Mutation_p.L621I|VARS2_ENST00000541562.1_Missense_Mutation_p.L651I|VARS2_ENST00000476162.1_3'UTR|VARS2_ENST00000542001.1_Missense_Mutation_p.L481I			Q5ST30	SYVM_HUMAN	valyl-tRNA synthetase 2, mitochondrial	621					valyl-tRNA aminoacylation	mitochondrion	ATP binding|valine-tRNA ligase activity			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(3)|prostate(3)|skin(4)|urinary_tract(1)	46						GGGCAGCGACCTTCTGCTGTT	0.622													17	126					2.35188e-11	2.91332e-11	1	1	0	A	30889947	C	A	30889947	3	1	81	1	0	0	0	0	1	0	0	0	17184	681	24	4	2029	4	VARS2	6	30889947	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	29632	30889947	140225120	5151	8767											
MUC21	394263	broad.mit.edu	37	6	30954212	30954212	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:30954212T>G	ENST00000376296.3	+	2	501	c.260T>G	c.(259-261)aTc>aGc	p.I87S	MUC21_ENST00000486149.2_De_novo_Start_InFrame	NM_001010909.2	NP_001010909.2	Q5SSG8	MUC21_HUMAN	mucin 21, cell surface associated	87	28 X 15 AA approximate tandem repeats.|Ser-rich.					integral to membrane|plasma membrane				NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						TCCAGTGGGATCAGCACAGCC	0.577													32	79					0	0	1	0	0	G	30954212	T	G	30954212	3	3	81	1	0	0	0	0	1	0	0	0	10025	1435	50	4	266	4	MUC21	6	30954212	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	64265	30954212	140160855	5152	8768											
TCF19	6941	broad.mit.edu	37	6	31129330	31129330	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:31129330G>A	ENST00000376257.3	+	3	1099	c.345G>A	c.(343-345)tcG>tcA	p.S115S	TCF19_ENST00000376255.4_Silent_p.S115S|TCF19_ENST00000496421.1_3'UTR	NM_007109.2	NP_009040.2	Q9Y242	TCF19_HUMAN	transcription factor 19	115					cell proliferation|regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)	9						CCAGCCCCTCGGAGTTCTACT	0.562													9	77					0	0	1	0	0	A	31129330	G	A	31129330	2	1	81	1	0	0	0	0	0	0	0	1	15749	1103	39	1		1	TCF19	6	31129330	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	175118	31129330	139985737	5153	8769											
HLA-B	3106	broad.mit.edu	37	6	31323155	31323155	+	Silent	SNP	C	C	T	rs1065502		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:31323155C>T	ENST00000412585.2	-	4	862	c.834G>A	c.(832-834)gaG>gaA	p.E278E		NM_005514.6	NP_005505.2			major histocompatibility complex, class I, B											endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(2)	27						TGTATCTCTGCTCTTCTCCAG	0.567									Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of				7	45					0	0	1	0	0	T	31323155	C	T	31323155	2	4	81	1	0	0	0	0	0	0	0	1	7237	796	28	2		2	HLA-B	6	31323155	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	193825	31323155	139791912	5154	8770											
CSNK2B	1460	broad.mit.edu	37	6	31634614	31634614	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:31634614C>T	ENST00000375880.2	+	2	124	c.6C>T	c.(4-6)agC>agT	p.S2S	CSNK2B_ENST00000375866.2_Silent_p.S2S|CSNK2B_ENST00000375882.2_Silent_p.S2S|CSNK2B_ENST00000375885.4_Silent_p.S21S|CSNK2B_ENST00000375865.2_Silent_p.S2S																							TGAAGATGAGCAGCTCAGAGG	0.512													4	29					0	0	1	0	0	T	31634614	C	T	31634614	2	4	81	1	0	0	0	0	0	0	0	1	3984	709	25	2		2	CSNK2B	6	31634614	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	311459	31634614	139480453	5155	8771											
LY6G5C	80741	broad.mit.edu	37	6	31646976	31646976	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:31646976C>T	ENST00000375858.3	-	2	190	c.182G>A	c.(181-183)cGa>cAa	p.R61Q	LY6G5C_ENST00000375860.2_Missense_Mutation_p.R62Q|LY6G5C_ENST00000383237.4_Missense_Mutation_p.R64Q|LY6G5C_ENST00000474395.1_5'UTR	NM_025262.3	NP_079538.3	Q5SRR4	LY65C_HUMAN	lymphocyte antigen 6 complex, locus G5C	64	UPAR/Ly6.					extracellular region				endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	7						CAAGAGGCATCGGTAGCAGCG	0.527													55	92					0	0	1	0	0	T	31646976	C	T	31646976	3	4	81	1	0	0	0	0	1	0	0	0	9139	884	31	1	269	1	LY6G5C	6	31646976	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	12362	31646976	139468091	5156	8772											
LY6G6D	58530	broad.mit.edu	37	6	31675698	31675698	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:31675698C>A	ENST00000503322.1	+	3	436	c.433C>A	c.(433-435)Ctg>Atg	p.L145M	LY6G6F_ENST00000375832.4_Missense_Mutation_p.L145M|LY6G6F_ENST00000556581.1_Missense_Mutation_p.L145M|XXbac-BPG32J3.20_ENST00000461287.1_Intron																							CAATGTCCTCCTGTGCTCTGT	0.607													8	66					5.18039e-06	5.88187e-06	1	1	0	A	31675698	C	A	31675698	3	1	81	1	0	0	0	0	1	0	0	0	9141	680	24	4		4	LY6G6D	6	31675698	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	28722	31675698	139439369	5157	8773											
DDAH2	23564	broad.mit.edu	37	6	31696257	31696257	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:31696257C>A	ENST00000375792.3	-	4	1072	c.442G>T	c.(442-444)Gga>Tga	p.G148*	DDAH2_ENST00000480913.1_5'UTR|DDAH2_ENST00000375789.2_Nonsense_Mutation_p.G148*|DDAH2_ENST00000375787.2_Nonsense_Mutation_p.G148*			O95865	DDAH2_HUMAN	dimethylarginine dimethylaminohydrolase 2	148					anti-apoptosis|arginine catabolic process|citrulline metabolic process|nitric oxide biosynthetic process|nitric oxide mediated signal transduction	cytoplasm	dimethylargininase activity|protein binding			endometrium(1)|large_intestine(3)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	11					L-Citrulline(DB00155)	ATCTCAGCTCCTCGGTGATTG	0.662													4	23					0.184627	0.18622	1	1	0	A	31696257	C	A	31696257	4	1	81	1	0	0	0	0	0	1	0	0	4345	690	24	4	431	4	DDAH2	6	31696257	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	20559	31696257	139418810	5158	8774											
VARS	7407	broad.mit.edu	37	6	31750347	31750347	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:31750347G>A	ENST00000375663.3	-	16	2391	c.1951C>T	c.(1951-1953)Cgt>Tgt	p.R651C	VARS_ENST00000444930.2_3'UTR	NM_006295.2	NP_006286.1	P26640	SYVC_HUMAN	valyl-tRNA synthetase	651					translational elongation|valyl-tRNA aminoacylation	cytosol	ATP binding|protein binding|valine-tRNA ligase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	30					L-Valine(DB00161)	TCAATGCCACGGAACAGTCCC	0.632													10	16					0	0	1	0	0	A	31750347	G	A	31750347	3	1	81	1	0	0	0	0	1	0	0	0	17183	1116	39	1	1903	1	VARS	6	31750347	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	54090	31750347	139364720	5159	8775											
VARS	7407	broad.mit.edu	37	6	31750377	31750377	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:31750377G>T	ENST00000375663.3	-	16	2361	c.1921C>A	c.(1921-1923)Ctg>Atg	p.L641M	VARS_ENST00000444930.2_3'UTR	NM_006295.2	NP_006286.1	P26640	SYVC_HUMAN	valyl-tRNA synthetase	641					translational elongation|valyl-tRNA aminoacylation	cytosol	ATP binding|protein binding|valine-tRNA ligase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	30					L-Valine(DB00161)	AGCGCCACCAGCACCGCTTTC	0.642													3	24					0.004672	0.00489345	1	1	0	T	31750377	G	T	31750377	3	4	81	1	0	0	0	0	1	0	0	0	17183	962	34	4	1933	4	VARS	6	31750377	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	30	31750377	139364690	5160	8776											
VARS	7407	broad.mit.edu	37	6	31752244	31752244	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:31752244G>T	ENST00000375663.3	-	12	1943	c.1503C>A	c.(1501-1503)ctC>ctA	p.L501L	VARS_ENST00000444930.2_Silent_p.L206L	NM_006295.2	NP_006286.1	P26640	SYVC_HUMAN	valyl-tRNA synthetase	501					translational elongation|valyl-tRNA aminoacylation	cytosol	ATP binding|protein binding|valine-tRNA ligase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	30					L-Valine(DB00161)	CAGGCACGGAGAGCAGGGTGC	0.592													8	82					1.12685e-05	1.27052e-05	1	1	0	T	31752244	G	T	31752244	2	4	81	1	0	0	0	0	0	0	0	1	17183	929	33	4		4	VARS	6	31752244	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1867	31752244	139362823	5161	8777											
VARS	7407	broad.mit.edu	37	6	31760029	31760029	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:31760029G>A	ENST00000375663.3	-	6	1276	c.836C>T	c.(835-837)aCc>aTc	p.T279I	VARS_ENST00000444930.2_5'UTR	NM_006295.2	NP_006286.1	P26640	SYVC_HUMAN	valyl-tRNA synthetase	279					translational elongation|valyl-tRNA aminoacylation	cytosol	ATP binding|protein binding|valine-tRNA ligase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	30					L-Valine(DB00161)	GAGGTCATAGGTAATGACCCC	0.552													27	40					0	0	1	0	0	A	31760029	G	A	31760029	3	1	81	1	0	0	0	0	1	0	0	0	17183	1261	44	2	3058	2	VARS	6	31760029	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	7785	31760029	139355038	5162	8778											
HSPA1L	3305	broad.mit.edu	37	6	31778007	31778007	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:31778007C>T	ENST00000375654.4	-	2	1932	c.1743G>A	c.(1741-1743)tcG>tcA	p.S581S	HSPA1L_ENST00000417199.3_Silent_p.S581S	NM_005527.3	NP_005518.3	P34931	HS71L_HUMAN	heat shock 70kDa protein 1-like	581					response to unfolded protein		ATP binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|pleura(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						CCTCCAGCCACGAAAGGAGCT	0.388													42	63					0	0	1	0	0	T	31778007	C	T	31778007	2	4	81	1	0	0	0	0	0	0	0	1	7453	523	19	1		1	HSPA1L	6	31778007	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	17978	31778007	139337060	5163	8779											
HSPA1L	3305	broad.mit.edu	37	6	31778626	31778626	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:31778626G>T	ENST00000375654.4	-	2	1313	c.1124C>A	c.(1123-1125)gCt>gAt	p.A375D	HSPA1L_ENST00000417199.3_Missense_Mutation_p.A375D	NM_005527.3	NP_005518.3	P34931	HS71L_HUMAN	heat shock 70kDa protein 1-like	375					response to unfolded protein		ATP binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|pleura(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						TTGTACCGCAGCCCCATATGC	0.597													10	52					1.58986e-06	1.82794e-06	1	1	0	T	31778626	G	T	31778626	3	4	81	1	0	0	0	0	1	0	0	0	7453	971	34	4	805	4	HSPA1L	6	31778626	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	619	31778626	139336441	5164	8780											
HSPA1L	3305	broad.mit.edu	37	6	31779560	31779560	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:31779560T>G	ENST00000375654.4	-	2	379	c.190A>C	c.(190-192)Aat>Cat	p.N64H	HSPA1L_ENST00000417199.3_Missense_Mutation_p.N64H	NM_005527.3	NP_005518.3	P34931	HS71L_HUMAN	heat shock 70kDa protein 1-like	64					response to unfolded protein		ATP binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|pleura(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						TTCTGGGGATTCATTGCTACC	0.507													54	66					0	0	1	0	0	G	31779560	T	G	31779560	3	3	81	1	0	0	0	0	1	0	0	0	7453	1783	62	5	1739	5	HSPA1L	6	31779560	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	934	31779560	139335507	5165	8781											
HSPA1B	3304	broad.mit.edu	37	6	31797648	31797648	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:31797648G>T	ENST00000375650.3	+	1	2137	c.1921G>T	c.(1921-1923)Gat>Tat	p.D641Y	HSPA1B_ENST00000545241.1_Missense_Mutation_p.D550Y	NM_005346.4	NP_005337.2	P08107	HSP71_HUMAN	heat shock 70kDa protein 1B	641					anti-apoptosis|mRNA catabolic process|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of inclusion body assembly|protein refolding|response to unfolded protein	cytosol|endoplasmic reticulum|inclusion body|mitochondrion|nuclear speck|perinuclear region of cytoplasm|ribonucleoprotein complex	ATP binding|protein binding involved in protein folding|protein N-terminus binding|receptor activity|ubiquitin protein ligase binding|unfolded protein binding			breast(1)|large_intestine(1)|prostate(1)	3						TGAGGAGGTGGATTAGGGGCC	0.567													6	94					0.000157383	0.000171784	1	1	0	T	31797648	G	T	31797648	3	4	81	1	0	0	0	0	1	0	0	0	7452	1174	41	5	1923	5	HSPA1B	6	31797648	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	18088	31797648	139317419	5166	8782											
SLC44A4	80736	broad.mit.edu	37	6	31832637	31832637	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:31832637C>T	ENST00000544672.1	-	19	1950	c.1654G>A	c.(1654-1656)Gac>Aac	p.D552N	SLC44A4_ENST00000229729.6_Missense_Mutation_p.D628N|SLC44A4_ENST00000375562.4_Missense_Mutation_p.D586N	NM_001178045.1	NP_001171516.1	Q53GD3	CTL4_HUMAN	solute carrier family 44, member 4	628						integral to membrane|plasma membrane	choline transmembrane transporter activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(1)|urinary_tract(2)	35					Choline(DB00122)	CTCTTAAAGTCTTTACCCAGC	0.552													8	17					0	0	1	0	0	T	31832637	C	T	31832637	3	4	81	1	0	0	0	0	1	0	0	0	14693	913	32	2	262	2	SLC44A4	6	31832637	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	34989	31832637	139282430	5167	8783											
EHMT2	10919	broad.mit.edu	37	6	31860293	31860293	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:31860293G>A	ENST00000395728.3	-	6	925	c.926C>T	c.(925-927)aCg>aTg	p.T309M	EHMT2_ENST00000375537.4_Missense_Mutation_p.T252M|EHMT2_ENST00000480912.1_5'UTR|EHMT2_ENST00000375530.4_Missense_Mutation_p.T252M|EHMT2_ENST00000375528.4_Missense_Mutation_p.T309M			Q96KQ7	EHMT2_HUMAN	euchromatic histone-lysine N-methyltransferase 2	252	Poly-Glu.				DNA methylation|peptidyl-lysine dimethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	21						GTCCCCTTTCGTCAGGGTCAC	0.542													18	37					0	0	1	0	0	A	31860293	G	A	31860293	3	1	81	1	0	0	0	0	1	0	0	0	5010	1145	40	1	2965	1	EHMT2	6	31860293	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	27656	31860293	139254774	5168	8784											
CFB	629	broad.mit.edu	37	6	31912542	31912542	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:31912542C>A	ENST00000556679.1	+	13	1537	c.1482C>A	c.(1480-1482)acC>acA	p.T494T	C2_ENST00000442278.2_Silent_p.T515T|CFB_ENST00000477310.1_Silent_p.T418T|C2_ENST00000299367.5_Silent_p.T647T|C2_ENST00000452323.2_Silent_p.T433T|C2_ENST00000469372.1_Silent_p.T401T|C2_ENST00000468407.1_3'UTR|CFB_ENST00000456570.1_Silent_p.T494T			P00751	CFAB_HUMAN	complement factor B	664	Peptidase S1.				complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						AAGAAAAAACCATGTTCCCCA	0.567													4	55					0.150653	0.152522	1	1	0	A	31912542	C	A	31912542	2	1	81	1	0	0	0	0	0	0	0	1	3300	581	21	5		5	CFB	6	31912542	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	52249	31912542	139202525	5169	8785											
CFB	629	broad.mit.edu	37	6	31918103	31918103	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:31918103T>C	ENST00000556679.1	+	24	3108	c.3053T>C	c.(3052-3054)gTg>gCg	p.V1018A	CFB_ENST00000477310.1_Missense_Mutation_p.V867A|CFB_ENST00000425368.2_Missense_Mutation_p.V516A|CFB_ENST00000456570.1_Missense_Mutation_p.V1018A			P00751	CFAB_HUMAN	complement factor B	516					complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						GGGGCTGTGGTGTCTGAGTAC	0.502													3	39					0	0	1	0	0	C	31918103	T	C	31918103	3	2	81	1	0	0	0	0	1	0	0	0	3300	1696	59	3	1593	3	CFB	6	31918103	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	5561	31918103	139196964	5170	8786											
SKIV2L	6499	broad.mit.edu	37	6	31937356	31937356	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:31937356G>A	ENST00000375394.2	+	28	3718	c.3605G>A	c.(3604-3606)cGc>cAc	p.R1202H	SKIV2L_ENST00000544581.1_Missense_Mutation_p.R1009H	NM_006929.4	NP_008860.4	Q15477	SKIV2_HUMAN	superkiller viralicidic activity 2-like (S. cerevisiae)	1202						nucleus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						TGCATTCAGCGCCTGGCTGAG	0.652													31	66					0	0	1	0	0	A	31937356	G	A	31937356	3	1	81	1	0	0	0	0	1	0	0	0	14414	1087	38	1	3715	1	SKIV2L	6	31937356	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	19253	31937356	139177711	5171	8787											
STK19	8859	broad.mit.edu	37	6	31940211	31940211	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:31940211T>C	ENST00000375331.2	+	2	519	c.353T>C	c.(352-354)cTg>cCg	p.L118P	STK19_ENST00000463823.1_3'UTR|STK19_ENST00000375333.2_Missense_Mutation_p.L118P	NM_004197.1	NP_004188.1	P49842	STK19_HUMAN	serine/threonine kinase 19	118						nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			skin(5)|upper_aerodigestive_tract(2)	7						AGGCATCACCTGATCCCGGAG	0.587													29	47					0	0	1	0	0	C	31940211	T	C	31940211	3	2	81	1	0	0	0	0	1	0	0	0	15348	1580	55	3	359	3	STK19	6	31940211	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	2855	31940211	139174856	5172	8788											
STK19	8859	broad.mit.edu	37	6	31940512	31940512	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:31940512G>T	ENST00000375331.2	+	3	711	c.545G>T	c.(544-546)aGg>aTg	p.R182M	STK19_ENST00000463823.1_Intron|STK19_ENST00000375333.2_Missense_Mutation_p.R182M	NM_004197.1	NP_004188.1	P49842	STK19_HUMAN	serine/threonine kinase 19	182						nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			skin(5)|upper_aerodigestive_tract(2)	7						GTGCCTGACAGGACCGTGGCC	0.647													6	47					0.00116845	0.00124301	1	1	0	T	31940512	G	T	31940512	3	4	81	1	0	0	0	0	1	0	0	0	15348	1000	35	4	555	4	STK19	6	31940512	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	301	31940512	139174555	5173	8789											
C4A	720	broad.mit.edu	37	6	31964364	31964364	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:31964364C>T	ENST00000428956.2	+	28	3747	c.3663C>T	c.(3661-3663)gcC>gcT	p.A1221A	C4A_ENST00000498271.1_Silent_p.A1221A	NM_007293.2	NP_009224.2			complement component 4A (Rodgers blood group)																		TGGCAATGGCCCAGGAGACTG	0.642													10	37					0	0	1	0	0	T	31964364	C	T	31964364	2	4	81	1	0	0	0	0	0	0	0	1	2262	610	22	2		2	C4A	6	31964364	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	23852	31964364	139150703	5174	8790											
C4B	721	broad.mit.edu	37	6	31996282	31996282	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:31996282C>T	ENST00000435363.2	+	25	3287	c.3203C>T	c.(3202-3204)gCt>gTt	p.A1068V	C4B_ENST00000425700.2_Missense_Mutation_p.A1068V	NM_001002029.3	NP_001002029.3	P0C0L5	CO4B_HUMAN	complement component 4B (Chido blood group)	1068					complement activation, classical pathway|inflammatory response|innate immune response	extracellular space	endopeptidase inhibitor activity										TCCTATGCGGCTTGGTTGTCA	0.612													17	41					0	0	1	0	0	T	31996282	C	T	31996282	3	4	81	1	0	0	0	0	1	0	0	0	2263	797	28	2	8363	2	C4B	6	31996282	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	31918	31996282	139118785	5175	8791											
C4B	721	broad.mit.edu	37	6	31997102	31997102	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:31997102C>T	ENST00000435363.2	+	28	3747	c.3663C>T	c.(3661-3663)gcC>gcT	p.A1221A	C4B_ENST00000425700.2_Silent_p.A1221A	NM_001002029.3	NP_001002029.3	P0C0L5	CO4B_HUMAN	complement component 4B (Chido blood group)	1221					complement activation, classical pathway|inflammatory response|innate immune response	extracellular space	endopeptidase inhibitor activity										TGGCAATGGCCCAGGAGACTG	0.647													12	17					0	0	1	0	0	T	31997102	C	T	31997102	2	4	81	1	0	0	0	0	0	0	0	1	2263	610	22	2		2	C4B	6	31997102	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	820	31997102	139117965	5176	8792											
TNXB	7148	broad.mit.edu	37	6	32016145	32016145	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:32016145C>A	ENST00000375244.3	-	29	10241	c.10040G>T	c.(10039-10041)aGg>aTg	p.R3347M	TNXB_ENST00000375247.2_Missense_Mutation_p.R3345M			P22105	TENX_HUMAN	tenascin XB	3392	Fibronectin type-III 25.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CTCACCGGTCCTGGCCTCCAC	0.657													5	18					1.23904e-05	1.39156e-05	1	1	0	A	32016145	C	A	32016145	3	1	81	1	0	0	0	0	1	0	0	0	16406	681	24	4	4743	4	TNXB	6	32016145	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	19043	32016145	139098922	5177	8793											
TNXB	7148	broad.mit.edu	37	6	32035474	32035474	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:32035474G>A	ENST00000375244.3	-	18	6709	c.6508C>T	c.(6508-6510)Cgg>Tgg	p.R2170W	TNXB_ENST00000375247.2_Missense_Mutation_p.R2170W			P22105	TENX_HUMAN	tenascin XB	2242	Fibronectin type-III 14.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	p.R2170R(1)|p.R2257R(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CCCACGCGCCGCCCCTCGTGG	0.652													13	17					0	0	1	0	0	A	32035474	G	A	32035474	3	1	81	1	0	0	0	0	1	0	0	0	16406	1086	38	1	8313	1	TNXB	6	32035474	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	19329	32035474	139079593	5178	8794											
TNXB	7148	broad.mit.edu	37	6	32040067	32040067	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:32040067G>T	ENST00000375244.3	-	13	4891	c.4690C>A	c.(4690-4692)Cca>Aca	p.P1564T	TNXB_ENST00000375247.2_Missense_Mutation_p.P1564T			P22105	TENX_HUMAN	tenascin XB	1649	Fibronectin type-III 8.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GGGGCTGGTGGGAGGGGAGCT	0.607													5	22					1.23904e-05	1.39156e-05	1	1	0	T	32040067	G	T	32040067	3	4	81	1	0	0	0	0	1	0	0	0	16406	1232	43	5	10151	5	TNXB	6	32040067	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	4593	32040067	139075000	5179	8795											
TNXB	7148	broad.mit.edu	37	6	32063391	32063391	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:32063391C>A	ENST00000375244.3	-	3	2440	c.2239G>T	c.(2239-2241)Gaa>Taa	p.E747*	TNXB_ENST00000479795.1_Nonsense_Mutation_p.E747*|TNXB_ENST00000375247.2_Nonsense_Mutation_p.E747*			P22105	TENX_HUMAN	tenascin XB	747					actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						TGCTCACCTTCTCCGCAGTCT	0.597													14	34					1.37285e-15	1.7532e-15	1	1	0	A	32063391	C	A	32063391	4	1	81	1	0	0	0	0	0	1	0	0	16406	922	32	4	12642	4	TNXB	6	32063391	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	23324	32063391	139051676	5180	8796											
FKBPL	63943	broad.mit.edu	37	6	32097545	32097545	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:32097545G>A	ENST00000375156.3	-	2	283	c.13C>T	c.(13-15)Cca>Tca	p.P5S		NM_022110.3	NP_071393.2	Q9UIM3	FKBPL_HUMAN	FK506 binding protein like	5					response to radiation	membrane|nucleus	FK506 binding|peptidyl-prolyl cis-trans isomerase activity										GTATTGACTGGTGGCGTCTCC	0.473													11	15					0	0	1	0	0	A	32097545	G	A	32097545	3	1	81	1	0	0	0	0	1	0	0	0	5949	1261	44	2	1040	2	FKBPL	6	32097545	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	34154	32097545	139017522	5181	8797											
PPT2	9374	broad.mit.edu	37	6	32130594	32130594	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:32130594G>A	ENST00000324816.6	+	9	1344	c.776G>A	c.(775-777)cGg>cAg	p.R259Q	PPT2-EGFL8_ENST00000453656.2_Intron|PPT2_ENST00000375143.2_Missense_Mutation_p.R259Q|PPT2_ENST00000395523.1_Missense_Mutation_p.R259Q|PPT2_ENST00000445576.2_Intron|PPT2_ENST00000437001.2_Intron|PPT2_ENST00000361568.2_Missense_Mutation_p.R265Q|PPT2_ENST00000375137.2_Missense_Mutation_p.R259Q|PPT2-EGFL8_ENST00000422437.1_Intron			Q9UMR5	PPT2_HUMAN	palmitoyl-protein thioesterase 2	259					protein modification process	lysosome	palmitoyl-(protein) hydrolase activity	p.R265L(2)		NS(1)|endometrium(2)|large_intestine(2)|lung(10)|prostate(1)|urinary_tract(1)	17						GTTTATCTGCGGGATTCTTTT	0.557													79	95					0	0	1	0	0	A	32130594	G	A	32130594	3	1	81	1	0	0	0	0	1	0	0	0	12461	1116	39	1	828	1	PPT2	6	32130594	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	33049	32130594	138984473	5182	8798											
NOTCH4	4855	broad.mit.edu	37	6	32163319	32163319	+	Silent	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:32163319A>T	ENST00000375023.3	-	30	6045	c.5907T>A	c.(5905-5907)ccT>ccA	p.P1969P		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	1969					cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						TAAGGCAAGGAGGCGGGATCG	0.617													9	66					0	0	1	0	0	T	32163319	A	T	32163319	2	4	81	1	0	0	0	0	0	0	0	1	10598	291	11	5		5	NOTCH4	6	32163319	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	32725	32163319	138951748	5183	8799											
NOTCH4	4855	broad.mit.edu	37	6	32169988	32169988	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:32169988A>G	ENST00000375023.3	-	21	3758	c.3620T>C	c.(3619-3621)gTc>gCc	p.V1207A		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	1207					cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						GGGGTCTGGGACTCCCAGAGA	0.642													17	35					0	0	1	0	0	G	32169988	A	G	32169988	3	3	81	1	0	0	0	0	1	0	0	0	10598	275	10	3	2431	3	NOTCH4	6	32169988	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	6669	32169988	138945079	5184	8800											
NOTCH4	4855	broad.mit.edu	37	6	32170036	32170036	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:32170036C>T	ENST00000375023.3	-	21	3710	c.3572G>A	c.(3571-3573)tGc>tAc	p.C1191Y		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	1191					cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						CGGGCCACTGCAGCCAGCATC	0.662													13	20					0	0	1	0	0	T	32170036	C	T	32170036	3	4	81	1	0	0	0	0	1	0	0	0	10598	710	25	2	2479	2	NOTCH4	6	32170036	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	48	32170036	138945031	5185	8801											
NOTCH4	4855	broad.mit.edu	37	6	32180367	32180367	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:32180367C>T	ENST00000375023.3	-	17	2702	c.2564G>A	c.(2563-2565)cGc>cAc	p.R855H	NOTCH4_ENST00000465528.1_5'UTR	NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	855	EGF-like 22.				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						GTGGGAATTGCGTGGGCAGGG	0.607													35	77					0	0	1	0	0	T	32180367	C	T	32180367	3	4	81	1	0	0	0	0	1	0	0	0	10598	768	27	1	3503	1	NOTCH4	6	32180367	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	10331	32180367	138934700	5186	8802											
C6orf10	10665	broad.mit.edu	37	6	32261804	32261804	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:32261804T>C	ENST00000375015.4	-	26	843	c.643A>G	c.(643-645)Aca>Gca	p.T215A	C6orf10_ENST00000533191.1_Missense_Mutation_p.T214A|C6orf10_ENST00000375007.4_Missense_Mutation_p.T214A|C6orf10_ENST00000442822.2_Missense_Mutation_p.T207A|C6orf10_ENST00000527965.1_Missense_Mutation_p.T200A|C6orf10_ENST00000447241.2_Missense_Mutation_p.T216A			Q5SRN2	CF010_HUMAN	chromosome 6 open reading frame 10	216						integral to membrane				cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	25						ATGTAACCTGTTAATATAACT	0.343													8	84					0	0	1	0	0	C	32261804	T	C	32261804	3	2	81	1	0	0	0	0	1	0	0	0	2331	1725	60	3	1049	3	C6orf10	6	32261804	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	81437	32261804	138853263	5187	8803											
HLA-DRA	3122	broad.mit.edu	37	6	32410377	32410377	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:32410377T>A	ENST00000395388.2	+	2	344	c.235T>A	c.(235-237)Ttt>Att	p.F79I	HLA-DRA_ENST00000374982.5_Missense_Mutation_p.F79I	NM_019111.4	NP_061984.2	P01903	DRA_HUMAN	major histocompatibility complex, class II, DR alpha	79	Alpha-1.				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|Golgi apparatus|integral to plasma membrane|late endosome membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity			NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	19						ATTTGCCAGCTTTGAGGCTCA	0.468									T-cell Lymphoma, (Cutaneous) , Familial Clustering of;Kaposi Sarcoma, Familial Clustering of				34	67					0	0	1	0	0	A	32410377	T	A	32410377	3	1	81	1	0	0	0	0	1	0	0	0	7248	1609	56	5	241	5	HLA-DRA	6	32410377	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	148573	32410377	138704690	5188	8804											
HLA-DRB1	3123	broad.mit.edu	37	6	32557480	32557480	+	Missense_Mutation	SNP	C	C	T	rs17878475		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:32557480C>T	ENST00000360004.5	-	1	145	c.40G>A	c.(40-42)Gcg>Acg	p.A14T		NM_002124.3	NP_002115.2			major histocompatibility complex, class II, DR beta 1											large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(2)|stomach(1)	10						ACTGTCAGCGCTGTCATGCAG	0.592										Multiple Myeloma(14;0.17)			5	48					0	0	1	0	0	T	32557480	C	T	32557480	3	4	81	1	0	0	0	0	1	0	0	0	7249	797	28	2	784	2	HLA-DRB1	6	32557480	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	147103	32557480	138557587	5189	8805											
TAP2	6891	broad.mit.edu	37	6	32805576	32805576	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:32805576G>T	ENST00000374897.2	-	2	566	c.435C>A	c.(433-435)tcC>tcA	p.S145S	TAP2_ENST00000374899.4_Silent_p.S145S|TAP2_ENST00000452392.2_Silent_p.S145S	NM_000544.3	NP_000535.3	Q03519	TAP2_HUMAN	transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)	145					antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent|cytosol to ER transport|intracellular transport of viral proteins in host cell|peptide antigen transport|positive regulation of antigen processing and presentation of peptide antigen via MHC class I|positive regulation of T cell mediated cytotoxicity	nucleus|plasma membrane|TAP complex	ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|tapasin binding										GGTCCGGCCTGGAGAGCTTCA	0.572													21	22					4.63292e-17	5.96565e-17	1	1	0	T	32805576	G	T	32805576	2	4	81	1	0	0	0	0	0	0	0	1	15608	1335	47	5		5	TAP2	6	32805576	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	248096	32805576	138309491	5190	8806											
PSMB8	5696	broad.mit.edu	37	6	32810845	32810845	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:32810845G>T	ENST00000374881.2	-	2	446	c.157C>A	c.(157-159)Ctg>Atg	p.L53M	PSMB8_ENST00000374882.3_Missense_Mutation_p.L57M|PSMB8_ENST00000395339.3_Missense_Mutation_p.L57M	NM_004159.4	NP_004150.1	P28062	PSB8_HUMAN	proteasome (prosome, macropain) subunit, beta type, 8	57					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|type I interferon-mediated signaling pathway|viral reproduction	cytoplasm|nucleus|proteasome core complex	protein binding|threonine-type endopeptidase activity			NS(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(1)	11						TCCCCACCCAGGGACTGGAAG	0.488													5	30					2.0095e-06	2.30238e-06	1	1	0	T	32810845	G	T	32810845	3	4	81	1	0	0	0	0	1	0	0	0	12732	991	35	4	681	4	PSMB8	6	32810845	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	5269	32810845	138304222	5191	8807											
HLA-DMB	3109	broad.mit.edu	37	6	32903412	32903412	+	Missense_Mutation	SNP	T	T	C	rs35339338		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:32903412T>C	ENST00000418107.2	-	4	902	c.640A>G	c.(640-642)Atg>Gtg	p.M214V		NM_002118.4	NP_002109.2	P28068	DMB_HUMAN	major histocompatibility complex, class II, DM beta	214	Connecting peptide (Potential).				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	integral to membrane|late endosome membrane|lysosomal membrane|MHC class II protein complex				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13						AGGGTCTGCATGGGGGACAGC	0.537													17	27					0	0	1	0	0	C	32903412	T	C	32903412	3	2	81	1	0	0	0	0	1	0	0	0	7240	1464	51	3	163	3	HLA-DMB	6	32903412	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	92567	32903412	138211655	5192	8808											
HLA-DMB	3109	broad.mit.edu	37	6	32906533	32906533	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:32906533G>A	ENST00000416244.2	-	2	459	c.265C>T	c.(265-267)Cgc>Tgc	p.R89C	XXbac-BPG181M17.5_ENST00000429234.1_Missense_Mutation_p.R121C|HLA-DMB_ENST00000418107.2_Missense_Mutation_p.R89C			P28068	DMB_HUMAN	major histocompatibility complex, class II, DM beta	89	Beta-1.				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	integral to membrane|late endosome membrane|lysosomal membrane|MHC class II protein complex				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13						TTGCGCAAGCGCTGCATCAGG	0.552													40	53					0	0	1	0	0	A	32906533	G	A	32906533	3	1	81	1	0	0	0	0	1	0	0	0	7240	1087	38	1	546	1	HLA-DMB	6	32906533	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	3121	32906533	138208534	5193	8809											
HLA-DMA	3108	broad.mit.edu	37	6	32917135	32917135	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:32917135G>T	ENST00000374843.4	-	4	779	c.694C>A	c.(694-696)Ctg>Atg	p.L232M	XXbac-BPG181M17.5_ENST00000429234.1_Intron|HLA-DMA_ENST00000395303.3_Missense_Mutation_p.L198M|HLA-DMA_ENST00000464392.1_5'UTR|HLA-DMA_ENST00000395305.3_Missense_Mutation_p.L137M	NM_006120.3	NP_006111.2	Q31604	Q31604_HUMAN	major histocompatibility complex, class II, DM alpha	232						integral to membrane|MHC class II protein complex				kidney(1)|large_intestine(2)|lung(8)	11						ACGCCACACAGCACATTCTCC	0.582													13	9					4.3838e-07	5.09097e-07	1	1	0	T	32917135	G	T	32917135	3	4	81	1	0	0	0	0	1	0	0	0	7239	962	34	4	99	4	HLA-DMA	6	32917135	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	10602	32917135	138197932	5194	8810											
BRD2	6046	broad.mit.edu	37	6	32945321	32945321	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:32945321G>A	ENST00000395289.2	+	8	2904	c.1303G>A	c.(1303-1305)Gtt>Att	p.V435I	BRD2_ENST00000374825.4_Missense_Mutation_p.V435I|BRD2_ENST00000374831.4_Missense_Mutation_p.V435I|BRD2_ENST00000443797.2_Missense_Mutation_p.V315I|BRD2_ENST00000395287.1_Missense_Mutation_p.V435I|BRD2_ENST00000449085.2_Missense_Mutation_p.V388I			P25440	BRD2_HUMAN	bromodomain containing 2	435	Bromo 2.				spermatogenesis	nucleus	protein serine/threonine kinase activity			central_nervous_system(3)|stomach(2)	5						AGATCACGATGTTGTGGCAAT	0.458													59	90					0	0	1	0	0	A	32945321	G	A	32945321	3	1	81	1	0	0	0	0	1	0	0	0	1504	1377	48	2	1329	2	BRD2	6	32945321	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	28186	32945321	138169746	5195	8811											
BRD2	6046	broad.mit.edu	37	6	32947864	32947864	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:32947864C>T	ENST00000395289.2	+	12	3807	c.2206C>T	c.(2206-2208)Cgc>Tgc	p.R736C	BRD2_ENST00000374825.4_Missense_Mutation_p.R701C|BRD2_ENST00000374831.4_Missense_Mutation_p.R701C|BRD2_ENST00000443797.2_Missense_Mutation_p.R581C|BRD2_ENST00000395287.1_Missense_Mutation_p.R736C|BRD2_ENST00000449085.2_Missense_Mutation_p.R654C			P25440	BRD2_HUMAN	bromodomain containing 2	701	ET.				spermatogenesis	nucleus	protein serine/threonine kinase activity			central_nervous_system(3)|stomach(2)	5						AGAGCTTGAGCGCTATGTCCT	0.458													17	33					0	0	1	0	0	T	32947864	C	T	32947864	3	4	81	1	0	0	0	0	1	0	0	0	1504	768	27	1	2139	1	BRD2	6	32947864	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2543	32947864	138167203	5196	8812											
HLA-DPB1	3115	broad.mit.edu	37	6	33054010	33054010	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:33054010G>A	ENST00000418931.2	+	5	888	c.772G>A	c.(772-774)Gca>Aca	p.A258T		NM_002121.5	NP_002112.3	P04440	DPB1_HUMAN	major histocompatibility complex, class II, DP beta 1	258					antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|endosome membrane|Golgi apparatus|integral to membrane|lysosomal membrane|MHC class II protein complex				cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	11						ACGAGGATCTGCATAAACAGG	0.418													5	67					0	0	1	0	0	A	33054010	G	A	33054010	3	1	81	1	0	0	0	0	1	0	0	0	7244	1319	46	2	790	2	HLA-DPB1	6	33054010	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	106146	33054010	138061057	5197	8813											
COL11A2	1302	broad.mit.edu	37	6	33146457	33146457	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:33146457C>A	ENST00000341947.2	-	18	1945	c.1718G>T	c.(1717-1719)aGg>aTg	p.R573M	COL11A2_ENST00000374712.1_Splice_Site_p.R492M|COL11A2_ENST00000357486.1_Splice_Site_p.R552M|COL11A2_ENST00000374713.1_Splice_Site_p.R526M|COL11A2_ENST00000395197.1_Splice_Site_p.R513M|COL11A2_ENST00000374714.1_Splice_Site_p.R547M|COL11A2_ENST00000361917.1_Splice_Site_p.R466M|COL11A2_ENST00000374708.4_Splice_Site_p.R487M	NM_080680.2	NP_542411.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	573	Triple-helical region.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						TGTACTCACCCTATGGCCCTT	0.557													13	179					0.000151284	0.000165917	1	1	0	A	33146457	C	A	33146457	5	1	81	1	0	0	0	0	0	0	1	0	3691	695	24	4	3688	4	COL11A2	6	33146457	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	92447	33146457	137968610	5198	8814											
COL11A2	1302	broad.mit.edu	37	6	33153518	33153518	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:33153518T>C	ENST00000341947.2	-	6	1063	c.836A>G	c.(835-837)tAt>tGt	p.Y279C	COL11A2_ENST00000374712.1_Missense_Mutation_p.Y279C|COL11A2_ENST00000357486.1_Missense_Mutation_p.Y279C|COL11A2_ENST00000374713.1_Intron|COL11A2_ENST00000395197.1_Missense_Mutation_p.Y279C|COL11A2_ENST00000374714.1_Intron|COL11A2_ENST00000361917.1_Intron|COL11A2_ENST00000374708.4_Intron	NM_080680.2	NP_542411.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	279	Nonhelical region.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						CACATCATAATAGGGGGGCTC	0.532													10	61					0	0	1	0	0	C	33153518	T	C	33153518	3	2	81	1	0	0	0	0	1	0	0	0	3691	1406	49	3	4618	3	COL11A2	6	33153518	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	7061	33153518	137961549	5199	8815											
COL11A2	1302	broad.mit.edu	37	6	33157138	33157138	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:33157138C>T	ENST00000341947.2	-	2	418	c.191G>A	c.(190-192)cGa>cAa	p.R64Q	COL11A2_ENST00000374712.1_Missense_Mutation_p.R64Q|COL11A2_ENST00000357486.1_Missense_Mutation_p.R64Q|COL11A2_ENST00000374713.1_Missense_Mutation_p.R64Q|COL11A2_ENST00000395194.1_Missense_Mutation_p.R64Q|COL11A2_ENST00000395197.1_Missense_Mutation_p.R64Q|COL11A2_ENST00000374714.1_Missense_Mutation_p.R64Q|COL11A2_ENST00000361917.1_Missense_Mutation_p.R64Q|COL11A2_ENST00000374708.4_Missense_Mutation_p.R64Q	NM_080680.2	NP_542411.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	64	TSP N-terminal.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						CTGGGCAGGTCGTGCCACTCG	0.632													17	32					0	0	1	0	0	T	33157138	C	T	33157138	3	4	81	1	0	0	0	0	1	0	0	0	3691	884	31	1	5354	1	COL11A2	6	33157138	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3620	33157138	137957929	5200	8816											
RXRB	6257	broad.mit.edu	37	6	33164153	33164153	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:33164153C>A	ENST00000413614.2	-	4	982	c.763G>T	c.(763-765)Ggt>Tgt	p.G255C	RXRB_ENST00000544186.1_Intron|RXRB_ENST00000374685.4_Intron|RXRB_ENST00000374680.3_Intron			P28702	RXRB_HUMAN	retinoid X receptor, beta	141					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	ligand-regulated transcription factor activity|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(1)|skin(2)	15					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755)	TAGAACAGACCTAGACTGCCT	0.582													7	101					0.000274275	0.000297259	1	1	0	A	33164153	C	A	33164153	3	1	81	1	0	0	0	0	1	0	0	0	13816	696	24	4		4	RXRB	6	33164153	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	7015	33164153	137950914	5201	8817											
SLC39A7	7922	broad.mit.edu	37	6	33169641	33169641	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:33169641C>A	ENST00000374677.3	+	2	904	c.531C>A	c.(529-531)tcC>tcA	p.S177S	SLC39A7_ENST00000374675.3_Silent_p.S177S	NM_006979.2	NP_008910.2	Q92504	S39A7_HUMAN	solute carrier family 39 (zinc transporter), member 7	177						endoplasmic reticulum membrane|integral to membrane|membrane fraction	protein binding|zinc ion transmembrane transporter activity			NS(1)|breast(3)|endometrium(2)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						GTTTTGCTTCCGGTGGGCTCC	0.488													9	123					0.000442599	0.000477972	1	1	0	A	33169641	C	A	33169641	2	1	81	1	0	0	0	0	0	0	0	1	14678	639	23	5		5	SLC39A7	6	33169641	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	5488	33169641	137945426	5202	8818											
SLC39A7	7922	broad.mit.edu	37	6	33170830	33170831	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:33170830_33170831insA	ENST00000374677.3	+	6	1457_1458	c.1084_1085insA	c.(1084-1086)cacfs	p.H362fs	SLC39A7_ENST00000374675.3_Frame_Shift_Ins_p.H362fs|SLC39A7_ENST00000463972.1_3'UTR	NM_006979.2	NP_008910.2	Q92504	S39A7_HUMAN	solute carrier family 39 (zinc transporter), member 7	362						endoplasmic reticulum membrane|integral to membrane|membrane fraction	protein binding|zinc ion transmembrane transporter activity			NS(1)|breast(3)|endometrium(2)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						TGAAGTGCCCCACGAGGTCGGA	0.55													10	244	---	---	---	---						A	33170831	-	A	33170830	7	5	81	1	0	1	1	0	0	0	0	0	14678	594	21	0	1106	0	SLC39A7	6	33170830	Frame_Shift_Ins	INS	-	TCGA-DU-6392-01A-11D-1705-08	1189	33170830	137944237	5203	8819											
SLC39A7	7922	broad.mit.edu	37	6	33171570	33171570	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:33171570C>A	ENST00000374677.3	+	7	1763	c.1390C>A	c.(1390-1392)Ctg>Atg	p.L464M	SLC39A7_ENST00000374675.3_Missense_Mutation_p.L464M|SLC39A7_ENST00000463972.1_3'UTR	NM_006979.2	NP_008910.2	Q92504	S39A7_HUMAN	solute carrier family 39 (zinc transporter), member 7	464				CALLTEGGAVGSEIAGGAGPGWVLPFTAGGFIYVATVSVLP ELLREASPLQSLLEVLGLLGGVIMMVLIAHLE -> VPFSL KEEQWTVKLQVVQVLAGSCHLLQVALST (in Ref. 1; BAA11528 and 2; AAD12305).		endoplasmic reticulum membrane|integral to membrane|membrane fraction	protein binding|zinc ion transmembrane transporter activity			NS(1)|breast(3)|endometrium(2)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						CATGATGGTGCTGATTGCCCA	0.592													18	36					3.32936e-07	3.87413e-07	1	1	0	A	33171570	C	A	33171570	3	1	81	1	0	0	0	0	1	0	0	0	14678	796	28	4	1416	4	SLC39A7	6	33171570	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	740	33171570	137943497	5204	8820											
VPS52	6293	broad.mit.edu	37	6	33219411	33219411	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:33219411G>A	ENST00000445902.2	-	19	2127	c.1909C>T	c.(1909-1911)Cgg>Tgg	p.R637W	VPS52_ENST00000436044.2_Missense_Mutation_p.R512W|HCG25_ENST00000442228.1_RNA|HCG25_ENST00000450514.1_RNA|HCG25_ENST00000422366.1_RNA|HCG25_ENST00000427196.1_RNA|VPS52_ENST00000478934.1_5'UTR|VPS52_ENST00000482399.1_3'UTR	NM_022553.4	NP_072047.4	Q8N1B4	VPS52_HUMAN	vacuolar protein sorting 52 homolog (S. cerevisiae)	637					protein transport	endosome membrane|Golgi apparatus		p.R637W(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(8)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28						TGAGTTACCCGGGCTAATAGC	0.478													18	37					0	0	1	0	0	A	33219411	G	A	33219411	3	1	81	1	0	0	0	0	1	0	0	0	17274	1115	39	1	270	1	VPS52	6	33219411	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	47841	33219411	137895656	5205	8821											
VPS52	6293	broad.mit.edu	37	6	33236905	33236905	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:33236905C>T	ENST00000445902.2	-	6	652	c.434G>A	c.(433-435)cGg>cAg	p.R145Q	VPS52_ENST00000436044.2_Missense_Mutation_p.R20Q|VPS52_ENST00000478934.1_5'UTR|VPS52_ENST00000482399.1_3'UTR	NM_022553.4	NP_072047.4	Q8N1B4	VPS52_HUMAN	vacuolar protein sorting 52 homolog (S. cerevisiae)	145					protein transport	endosome membrane|Golgi apparatus				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(8)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28						CTGCAGTGTCCGGATCTCAGA	0.542													74	102					0	0	1	0	0	T	33236905	C	T	33236905	3	4	81	1	0	0	0	0	1	0	0	0	17274	652	23	1	1797	1	VPS52	6	33236905	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	17494	33236905	137878162	5206	8822											
RPS18	6222	broad.mit.edu	37	6	33244215	33244215	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:33244215G>A	ENST00000439602.2	+	6	541	c.431G>A	c.(430-432)cGc>cAc	p.R144H	RPS18_ENST00000474973.1_Missense_Mutation_p.R74H|RPS18_ENST00000476222.1_3'UTR			P62269	RS18_HUMAN	ribosomal protein S18	144					endocrine pancreas development|ribosome biogenesis|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit	rRNA binding|structural constituent of ribosome			kidney(2)|large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1)	9						CGCCGTGGCCGCACCGTGGGT	0.478													6	23					0	0	1	0	0	A	33244215	G	A	33244215	3	1	81	1	0	0	0	0	1	0	0	0	13680	1087	38	1	453	1	RPS18	6	33244215	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	7310	33244215	137870852	5207	8823											
PFDN6	10471	broad.mit.edu	37	6	33257675	33257675	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:33257675G>T	ENST00000463584.1	+	1	124	c.42G>T	c.(40-42)gaG>gaT	p.E14D	PFDN6_ENST00000395131.1_Missense_Mutation_p.E14D|PFDN6_ENST00000374606.5_Missense_Mutation_p.E14D|PFDN6_ENST00000374607.1_Missense_Mutation_p.E14D|PFDN6_ENST00000374610.2_Missense_Mutation_p.E14D			O15212	PFD6_HUMAN	prefoldin subunit 6	14					'de novo' posttranslational protein folding|chaperone-mediated protein complex assembly	prefoldin complex	chaperone binding|unfolded protein binding			kidney(1)|large_intestine(1)	2						GAGAAGTGGAGAAATATCAAC	0.537													22	30					3.7963e-18	4.91491e-18	1	1	0	T	33257675	G	T	33257675	3	4	81	1	0	0	0	0	1	0	0	0	11807	933	33	4	44	4	PFDN6	6	33257675	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	13460	33257675	137857392	5208	8824											
RGL2	5863	broad.mit.edu	37	6	33259951	33259951	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:33259951C>T	ENST00000497454.1	-	18	2757	c.2262G>A	c.(2260-2262)ccG>ccA	p.P754P	PFDN6_ENST00000463584.1_Intron|RGL2_ENST00000437840.2_5'UTR	NM_001243738.1|NM_004761.4	NP_001230667.1|NP_004752.1	O15211	RGL2_HUMAN	ral guanine nucleotide dissociation stimulator-like 2	754					Ras protein signal transduction|regulation of small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity			breast(2)|cervix(2)|endometrium(7)|kidney(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	34						CTCCCTCACTCGGAGGAGTTC	0.607													33	22					0	0	1	0	0	T	33259951	C	T	33259951	2	4	81	1	0	0	0	0	0	0	0	1	13329	871	31	1		1	RGL2	6	33259951	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2276	33259951	137855116	5209	8825											
RGL2	5863	broad.mit.edu	37	6	33261844	33261844	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:33261844C>A	ENST00000497454.1	-	12	1849		c.e12-1		PFDN6_ENST00000463584.1_Intron|RGL2_ENST00000444031.2_Splice_Site|RGL2_ENST00000437840.2_Splice_Site	NM_001243738.1|NM_004761.4	NP_001230667.1|NP_004752.1	O15211	RGL2_HUMAN	ral guanine nucleotide dissociation stimulator-like 2						Ras protein signal transduction|regulation of small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity			breast(2)|cervix(2)|endometrium(7)|kidney(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	34						TGTATCCATTCTGCGAGGAAA	0.517													12	177					0.000978159	0.00104673	1	1	0	A	33261844	C	A	33261844	5	1	81	1	0	0	0	0	0	0	1	0	13329	927	32	4	1008	4	RGL2	6	33261844	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1893	33261844	137853223	5210	8826											
DAXX	1616	broad.mit.edu	37	6	33286883	33286883	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:33286883C>A	ENST00000374542.5	-	7	2258	c.2054G>T	c.(2053-2055)aGg>aTg	p.R685M	DAXX_ENST00000266000.6_Missense_Mutation_p.R685M|DAXX_ENST00000414083.2_Missense_Mutation_p.R610M	NM_001141969.1|NM_001141970.1|NM_001350.4	NP_001135441.1|NP_001135442.1|NP_001341.1	Q9UER7	DAXX_HUMAN	death-domain associated protein	685	Interaction with SPOP.				activation of JUN kinase activity|androgen receptor signaling pathway|apoptosis|induction of apoptosis via death domain receptors|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|regulation of protein ubiquitination|transcription, DNA-dependent	chromosome, centromeric region|cytosol|nucleolus|PML body	androgen receptor binding|heat shock protein binding|p53 binding|protein homodimerization activity|protein N-terminus binding|receptor signaling protein activity|transcription factor binding|ubiquitin protein ligase binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	55						AGAGTCCACCCTCGTGGAGGA	0.602			"Mis, F, N"		Pancreatic neuroendocrine tumors. Paediatric GBM								11	84					0.0135373	0.014045	1	1	0	A	33286883	C	A	33286883	3	1	81	1	0	0	0	0	1	0	0	0	4267	681	24	4	176	4	DAXX	6	33286883	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	25039	33286883	137828184	5211	8827											
DAXX	1616	broad.mit.edu	37	6	33288606	33288606	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:33288606C>T	ENST00000374542.5	-	3	1150	c.946G>A	c.(946-948)Gcc>Acc	p.A316T	DAXX_ENST00000266000.6_Missense_Mutation_p.A316T|DAXX_ENST00000414083.2_Missense_Mutation_p.A241T|DAXX_ENST00000477162.1_Intron	NM_001141969.1|NM_001141970.1|NM_001350.4	NP_001135441.1|NP_001135442.1|NP_001341.1	Q9UER7	DAXX_HUMAN	death-domain associated protein	316					activation of JUN kinase activity|androgen receptor signaling pathway|apoptosis|induction of apoptosis via death domain receptors|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|regulation of protein ubiquitination|transcription, DNA-dependent	chromosome, centromeric region|cytosol|nucleolus|PML body	androgen receptor binding|heat shock protein binding|p53 binding|protein homodimerization activity|protein N-terminus binding|receptor signaling protein activity|transcription factor binding|ubiquitin protein ligase binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	55						TCTCGGAAGGCATCCTGAGCC	0.587			"Mis, F, N"		Pancreatic neuroendocrine tumors. Paediatric GBM								43	68					0	0	1	0	0	T	33288606	C	T	33288606	3	4	81	1	0	0	0	0	1	0	0	0	4267	710	25	2	1300	2	DAXX	6	33288606	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1723	33288606	137826461	5212	8828											
KIFC1	3833	broad.mit.edu	37	6	33371558	33371558	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:33371558C>A	ENST00000428849.2	+	6	858	c.408C>A	c.(406-408)gcC>gcA	p.A136A	KIFC1_ENST00000486695.1_3'UTR	NM_002263.3	NP_002254.2	Q9BW19	KIFC1_HUMAN	kinesin family member C1	136					blood coagulation|cell division|microtubule-based movement|mitotic sister chromatid segregation	early endosome|microtubule|microtubule associated complex|microtubule organizing center|nucleus|spindle	ATP binding|microtubule motor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	13						AACGTCCAGCCTGGGACTTAA	0.502													26	40					4.59853e-10	5.59907e-10	1	1	0	A	33371558	C	A	33371558	2	1	81	1	0	0	0	0	0	0	0	1	8354	668	24	4		4	KIFC1	6	33371558	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	82952	33371558	137743509	5213	8829											
SYNGAP1	8831	broad.mit.edu	37	6	33405668	33405668	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:33405668G>A	ENST00000418600.2	+	8	1087	c.986G>A	c.(985-987)cGt>cAt	p.R329H	SYNGAP1_ENST00000293748.5_Missense_Mutation_p.R329H|SYNGAP1_ENST00000428982.2_Missense_Mutation_p.R270H|SYNGAP1_ENST00000496374.1_3'UTR	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1	329	C2.				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|SH3 domain binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						CATCTGTACCGTGACTCAGAC	0.622													23	27					0	0	1	0	0	A	33405668	G	A	33405668	3	1	81	1	0	0	0	0	1	0	0	0	15504	1145	40	1	1016	1	SYNGAP1	6	33405668	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	34110	33405668	137709399	5214	8830											
ITPR3	3710	broad.mit.edu	37	6	33632961	33632961	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:33632961C>T	ENST00000374316.5	+	14	2440	c.1380C>T	c.(1378-1380)aaC>aaT	p.N460N	ITPR3_ENST00000605930.1_Silent_p.N460N			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	460					activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						AGAAACTCAACGAGGGCTTCA	0.577													28	55					0	0	1	0	0	T	33632961	C	T	33632961	2	4	81	1	0	0	0	0	0	0	0	1	7966	535	19	1		1	ITPR3	6	33632961	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	227293	33632961	137482106	5215	8831											
ITPR3	3710	broad.mit.edu	37	6	33633685	33633685	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:33633685G>T	ENST00000374316.5	+	15	2543	c.1483G>T	c.(1483-1485)Gac>Tac	p.D495Y	ITPR3_ENST00000605930.1_Missense_Mutation_p.D495Y			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	495					activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						GAATGTCCTGGACATCATGGT	0.577													3	21					0.004672	0.00489345	1	1	0	T	33633685	G	T	33633685	3	4	81	1	0	0	0	0	1	0	0	0	7966	1174	41	5	1537	5	ITPR3	6	33633685	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	724	33633685	137481382	5216	8832											
ITPR3	3710	broad.mit.edu	37	6	33635017	33635017	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:33635017C>A	ENST00000374316.5	+	16	2723	c.1663C>A	c.(1663-1665)Ctg>Atg	p.L555M	ITPR3_ENST00000605930.1_Missense_Mutation_p.L555M			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	555					activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						CATGTTCCGCCTGTGCTACCG	0.647													10	17					7.48243e-07	8.64403e-07	1	1	0	A	33635017	C	A	33635017	3	1	81	1	0	0	0	0	1	0	0	0	7966	680	24	4	1721	4	ITPR3	6	33635017	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1332	33635017	137480050	5217	8833											
ITPR3	3710	broad.mit.edu	37	6	33653203	33653203	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:33653203G>A	ENST00000374316.5	+	41	6435	c.5375G>A	c.(5374-5376)cGc>cAc	p.R1792H	ITPR3_ENST00000605930.1_Missense_Mutation_p.R1792H			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	1792					activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						CTGCACGACCGCATGAAGCGG	0.587													6	14					0	0	1	0	0	A	33653203	G	A	33653203	3	1	81	1	0	0	0	0	1	0	0	0	7966	1087	38	1	5533	1	ITPR3	6	33653203	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	18186	33653203	137461864	5218	8834											
ITPR3	3710	broad.mit.edu	37	6	33655082	33655082	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:33655082A>G	ENST00000374316.5	+	46	7215	c.6155A>G	c.(6154-6156)aAc>aGc	p.N2052S	ITPR3_ENST00000605930.1_Missense_Mutation_p.N2052S			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	2052					activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						GTGGGCCATAACATCTATATC	0.622													7	14					0	0	1	0	0	G	33655082	A	G	33655082	3	3	81	1	0	0	0	0	1	0	0	0	7966	43	2	3	6333	3	ITPR3	6	33655082	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	1879	33655082	137459985	5219	8835											
ITPR3	3710	broad.mit.edu	37	6	33657132	33657132	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:33657132G>A	ENST00000374316.5	+	51	7872	c.6812G>A	c.(6811-6813)cGc>cAc	p.R2271H	ITPR3_ENST00000605930.1_Missense_Mutation_p.R2271H			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	2271					activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						CTCATCCTGCGCTCCATCTAC	0.582													24	39					0	0	1	0	0	A	33657132	G	A	33657132	3	1	81	1	0	0	0	0	1	0	0	0	7966	1087	38	1	7010	1	ITPR3	6	33657132	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2050	33657132	137457935	5220	8836											
IP6K3	117283	broad.mit.edu	37	6	33693227	33693227	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:33693227G>A	ENST00000451316.1	-	6	1291	c.756C>T	c.(754-756)tgC>tgT	p.C252C	IP6K3_ENST00000293756.4_Silent_p.C252C	NM_001142883.1	NP_001136355.1	Q96PC2	IP6K3_HUMAN	inositol hexakisphosphate kinase 3	252					inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|protein phosphorylation	cytoplasm	ATP binding|inositol hexakisphosphate 5-kinase activity|inositol hexakisphosphate 6-kinase activity|inositol trisphosphate 3-kinase activity			skin(1)	1						CCTGCATGCCGCAGATGCGCA	0.667													11	18					0	0	1	0	0	A	33693227	G	A	33693227	2	1	81	1	0	0	0	0	0	0	0	1	7834	1079	38	1		1	IP6K3	6	33693227	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	36095	33693227	137421840	5221	8837											
LEMD2	221496	broad.mit.edu	37	6	33740543	33740543	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:33740543C>A	ENST00000293760.5	-	9	1393	c.1374G>T	c.(1372-1374)aaG>aaT	p.K458N	LEMD2_ENST00000508327.1_Missense_Mutation_p.K156N	NM_181336.3	NP_851853.1	Q8NC56	LEMD2_HUMAN	LEM domain containing 2	458						integral to nuclear inner membrane				central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(2)|pancreas(1)	9						CCCAGACACGCTTCATGCGCC	0.622													6	12					0.00198382	0.00209725	1	1	0	A	33740543	C	A	33740543	3	1	81	1	0	0	0	0	1	0	0	0	8759	796	28	4	141	4	LEMD2	6	33740543	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	47316	33740543	137374524	5222	8838											
C6orf1	221491	broad.mit.edu	37	6	34214829	34214829	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:34214829C>T	ENST00000476320.1	-	4	799	c.117G>A	c.(115-117)gaG>gaA	p.E39E	C6orf1_ENST00000481533.1_Silent_p.E39E|C6orf1_ENST00000413013.2_Silent_p.E19E|C6orf1_ENST00000394990.4_Silent_p.E39E|C6orf1_ENST00000468145.1_Silent_p.E39E|C6orf1_ENST00000335352.3_Silent_p.E19E	NM_001008703.1	NP_001008703.1	Q86T20	CF001_HUMAN	chromosome 6 open reading frame 1	39						extracellular region				endometrium(1)|prostate(1)	2		Ovarian(999;0.0228)		BRCA - Breast invasive adenocarcinoma(397;1.11e-10)		ACCTTGGGGTCTCCCATGTCA	0.612											OREG0017364	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	55	81					0	0	1	0	0	T	34214829	C	T	34214829	2	4	81	1	0	0	0	0	0	0	0	1	2330	912	32	2		2	C6orf1	6	34214829	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	474286	34214829	136900238	5223	8839											
UHRF1BP1	54887	broad.mit.edu	37	6	34802047	34802047	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:34802047C>A	ENST00000192788.5	+	5	563	c.392C>A	c.(391-393)tCt>tAt	p.S131Y	UHRF1BP1_ENST00000452449.2_Missense_Mutation_p.S131Y	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	131										breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						ATTGTCAATTCTATCACCATC	0.453													8	30					0.000442599	0.000477972	1	1	0	A	34802047	C	A	34802047	3	1	81	1	0	0	0	0	1	0	0	0	17028	913	32	4	410	4	UHRF1BP1	6	34802047	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	587218	34802047	136313020	5224	8840											
UHRF1BP1	54887	broad.mit.edu	37	6	34825955	34825955	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:34825955C>A	ENST00000192788.5	+	14	1993	c.1822C>A	c.(1822-1824)Ctt>Att	p.L608I	UHRF1BP1_ENST00000452449.2_Missense_Mutation_p.L608I	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	608										breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						TCCCCAGGCCCTTGTCTTCTC	0.498													6	61					1	1	1	1	0	A	34825955	C	A	34825955	3	1	81	1	0	0	0	0	1	0	0	0	17028	681	24	4	1876	4	UHRF1BP1	6	34825955	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	23908	34825955	136289112	5225	8841											
UHRF1BP1	54887	broad.mit.edu	37	6	34831966	34831966	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:34831966T>G	ENST00000192788.5	+	15	3574	c.3403T>G	c.(3403-3405)Ttg>Gtg	p.L1135V	UHRF1BP1_ENST00000452449.2_Missense_Mutation_p.L1135V	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	1135										breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						TGTGATGCTCTTGGAGTCTGG	0.507													5	69					0	0	1	0	0	G	34831966	T	G	34831966	3	3	81	1	0	0	0	0	1	0	0	0	17028	1606	56	5	3461	5	UHRF1BP1	6	34831966	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	6011	34831966	136283101	5226	8842											
ANKS1A	23294	broad.mit.edu	37	6	35051220	35051220	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:35051220C>T	ENST00000360359.3	+	20	3072	c.2934C>T	c.(2932-2934)atC>atT	p.I978I	ANKS1A_ENST00000535627.1_Intron	NM_015245.2	NP_056060.2	Q92625	ANS1A_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1A	978	PID.					cytoplasm	protein binding			cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						TGAAGAAGATCCCCACCATCA	0.547													14	37					0	0	1	0	0	T	35051220	C	T	35051220	2	4	81	1	0	0	0	0	0	0	0	1	682	845	30	2		2	ANKS1A	6	35051220	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	219254	35051220	136063847	5227	8843											
TCP11	6954	broad.mit.edu	37	6	35089995	35089995	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:35089995G>T	ENST00000311875.5	-	5	933	c.516C>A	c.(514-516)ctC>ctA	p.L172L	TCP11_ENST00000244645.3_Silent_p.L97L|TCP11_ENST00000418521.2_Silent_p.L96L|TCP11_ENST00000373974.4_Silent_p.L126L|TCP11_ENST00000444780.2_Silent_p.L167L|TCP11_ENST00000412155.2_Silent_p.L121L|TCP11_ENST00000512012.1_Silent_p.L159L|TCP11_ENST00000373979.2_Silent_p.L97L			Q8WWU5	TCP11_HUMAN	t-complex 11, testis-specific	159					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				breast(1)|kidney(5)|large_intestine(3)|lung(10)|ovary(3)|prostate(1)|skin(4)	27						CGTACTTAGAGAGATAGAGGA	0.483													5	99					0.000602214	0.000646338	1	1	0	T	35089995	G	T	35089995	2	4	81	1	0	0	0	0	0	0	0	1	15772	929	33	4		4	TCP11	6	35089995	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	38775	35089995	136025072	5228	8844											
SCUBE3	222663	broad.mit.edu	37	6	35200674	35200674	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:35200674C>T	ENST00000274938.7	+	5	517	c.517C>T	c.(517-519)Cgg>Tgg	p.R173W	SCUBE3_ENST00000394681.1_Missense_Mutation_p.R173W	NM_152753.2	NP_689966.2	Q8IX30	SCUB3_HUMAN	signal peptide, CUB domain, EGF-like 3	173	EGF-like 4.				protein heterooligomerization|protein homooligomerization	cell surface|extracellular region	calcium ion binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	37						CCACATTTGCCGGGAGACACC	0.493													37	84					0	0	1	0	0	T	35200674	C	T	35200674	3	4	81	1	0	0	0	0	1	0	0	0	14000	643	23	1	535	1	SCUBE3	6	35200674	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	110679	35200674	135914393	5229	8845											
DEF6	50619	broad.mit.edu	37	6	35278292	35278292	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:35278292G>A	ENST00000316637.5	+	3	299	c.294G>A	c.(292-294)acG>acA	p.T98T	DEF6_ENST00000542066.1_5'UTR	NM_022047.3	NP_071330.3	Q9H4E7	DEFI6_HUMAN	differentially expressed in FDCP 6 homolog (mouse)	98						cytoplasm|nucleus|plasma membrane				cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	15						GGACGCTGACGGCCAAGAAGA	0.537													38	37					0	0	1	0	0	A	35278292	G	A	35278292	2	1	81	1	0	0	0	0	0	0	0	1	4409	1103	39	1		1	DEF6	6	35278292	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	77618	35278292	135836775	5230	8846											
TEAD3	7005	broad.mit.edu	37	6	35446068	35446068	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:35446068G>A	ENST00000338863.7	-	7	741	c.514C>T	c.(514-516)Cct>Tct	p.P172S	TEAD3_ENST00000402886.3_Missense_Mutation_p.P112S	NM_003214.3	NP_003205	Q99594	TEAD3_HUMAN	TEA domain family member 3	172	Pro-rich.				female pregnancy|hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	10						GAGGGTCCAGGCTGCTGTCCC	0.607													10	13					0	0	1	0	0	A	35446068	G	A	35446068	3	1	81	1	0	0	0	0	1	0	0	0	15799	1203	42	2	821	2	TEAD3	6	35446068	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	167776	35446068	135668999	5231	8847											
TULP1	7287	broad.mit.edu	37	6	35477678	35477678	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:35477678G>T	ENST00000229771.6	-	6	606	c.527C>A	c.(526-528)cCg>cAg	p.P176Q	TULP1_ENST00000322263.4_Missense_Mutation_p.P123Q	NM_003322.3	NP_003313.3	O00294	TULP1_HUMAN	tubby like protein 1	176					dendrite development|eye photoreceptor cell development|phagocytosis|photoreceptor cell maintenance|positive regulation of phagocytosis	cell junction|cytoplasm|extracellular region|photoreceptor inner segment|photoreceptor outer segment|synapse	actin filament binding|phosphatidylinositol-4,5-bisphosphate binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	19						CAGAGGTTTCGGTGGGGGGTC	0.567													8	110					0.000157383	0.000171784	1	1	0	T	35477678	G	T	35477678	3	4	81	1	0	0	0	0	1	0	0	0	16835	1116	39	5	1141	5	TULP1	6	35477678	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	31610	35477678	135637389	5232	8848											
SRPK1	6732	broad.mit.edu	37	6	35810363	35810363	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:35810363C>A	ENST00000373825.2	-	14	1924	c.1639G>T	c.(1639-1641)Ggt>Tgt	p.G547C	SRPK1_ENST00000373822.1_Missense_Mutation_p.G439C|SRPK1_ENST00000423325.2_Missense_Mutation_p.G531C			Q96SB4	SRPK1_HUMAN	SRSF protein kinase 1	547	Protein kinase.				cell differentiation|chromosome segregation|interspecies interaction between organisms|intracellular protein kinase cascade|mRNA processing|negative regulation of viral genome replication|positive regulation of viral genome replication|regulation of mRNA processing|RNA splicing	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			endometrium(2)|large_intestine(10)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21						AAATAGTCACCTGTGGCCAGT	0.418													9	21					5.4927e-09	6.5834e-09	1	1	0	A	35810363	C	A	35810363	3	1	81	1	0	0	0	0	1	0	0	0	15215	681	24	4	340	4	SRPK1	6	35810363	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	332685	35810363	135304704	5233	8849											
SLC26A8	116369	broad.mit.edu	37	6	35912039	35912039	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:35912039G>A	ENST00000490799.1	-	20	2904	c.2551C>T	c.(2551-2553)Caa>Taa	p.Q851*	SLC26A8_ENST00000394602.2_Nonsense_Mutation_p.Q746*|SLC26A8_ENST00000355574.2_Nonsense_Mutation_p.Q851*	NM_052961.3	NP_443193.1	Q96RN1	S26A8_HUMAN	solute carrier family 26 (anion exchanger), member 8	851	Interaction with RACGAP1.				cell differentiation|meiosis|multicellular organismal development|spermatogenesis	integral to membrane|plasma membrane	anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						ACAGGCTGTTGGATCTTGATG	0.463													22	50					0	0	1	0	0	A	35912039	G	A	35912039	4	1	81	1	0	0	0	0	0	1	0	0	14578	1357	47	2	365	2	SLC26A8	6	35912039	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	101676	35912039	135203028	5234	8850											
SLC26A8	116369	broad.mit.edu	37	6	35943152	35943152	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:35943152C>A	ENST00000490799.1	-	10	1640	c.1287G>T	c.(1285-1287)caG>caT	p.Q429H	SLC26A8_ENST00000394602.2_Splice_Site_p.Q324H|SLC26A8_ENST00000355574.2_Splice_Site_p.Q429H	NM_052961.3	NP_443193.1	Q96RN1	S26A8_HUMAN	solute carrier family 26 (anion exchanger), member 8	429					cell differentiation|meiosis|multicellular organismal development|spermatogenesis	integral to membrane|plasma membrane	anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						TTCAACATACCTGTTGTCTTC	0.338													6	15					0.00198382	0.00209725	1	1	0	A	35943152	C	A	35943152	5	1	81	1	0	0	0	0	0	0	1	0	14578	695	24	4	1669	4	SLC26A8	6	35943152	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	31113	35943152	135171915	5235	8851											
SLC26A8	116369	broad.mit.edu	37	6	35949922	35949922	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:35949922G>A	ENST00000490799.1	-	8	1354	c.1001C>T	c.(1000-1002)aCg>aTg	p.T334M	SLC26A8_ENST00000394602.2_Missense_Mutation_p.T229M|SLC26A8_ENST00000355574.2_Missense_Mutation_p.T334M	NM_052961.3	NP_443193.1	Q96RN1	S26A8_HUMAN	solute carrier family 26 (anion exchanger), member 8	334					cell differentiation|meiosis|multicellular organismal development|spermatogenesis	integral to membrane|plasma membrane	anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						GTCAATAAGCGTCTGGCTGGT	0.423													47	58					0	0	1	0	0	A	35949922	G	A	35949922	3	1	81	1	0	0	0	0	1	0	0	0	14578	1145	40	1	1963	1	SLC26A8	6	35949922	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	6770	35949922	135165145	5236	8852											
SLC26A8	116369	broad.mit.edu	37	6	35965538	35965538	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:35965538T>C	ENST00000490799.1	-	5	957	c.604A>G	c.(604-606)Act>Gct	p.T202A	SLC26A8_ENST00000394602.2_Missense_Mutation_p.T202A|SLC26A8_ENST00000355574.2_Missense_Mutation_p.T202A	NM_052961.3	NP_443193.1	Q96RN1	S26A8_HUMAN	solute carrier family 26 (anion exchanger), member 8	202					cell differentiation|meiosis|multicellular organismal development|spermatogenesis	integral to membrane|plasma membrane	anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						GTCAGAAAAGTTGTGGTTGCC	0.448													3	33					0	0	1	0	0	C	35965538	T	C	35965538	3	2	81	1	0	0	0	0	1	0	0	0	14578	1725	60	3	2372	3	SLC26A8	6	35965538	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	15616	35965538	135149529	5237	8853											
SLC26A8	116369	broad.mit.edu	37	6	35980071	35980071	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:35980071C>A	ENST00000490799.1	-	3	620	c.267G>T	c.(265-267)aaG>aaT	p.K89N	SLC26A8_ENST00000394602.2_Missense_Mutation_p.K89N|SLC26A8_ENST00000355574.2_Missense_Mutation_p.K89N	NM_052961.3	NP_443193.1	Q96RN1	S26A8_HUMAN	solute carrier family 26 (anion exchanger), member 8	89					cell differentiation|meiosis|multicellular organismal development|spermatogenesis	integral to membrane|plasma membrane	anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						GAAGCCAATCCTTTAATCGAT	0.458													21	175					8.10497e-08	9.55076e-08	1	1	0	A	35980071	C	A	35980071	3	1	81	1	0	0	0	0	1	0	0	0	14578	680	24	4	2717	4	SLC26A8	6	35980071	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	14533	35980071	135134996	5238	8854											
SLC26A8	116369	broad.mit.edu	37	6	35987396	35987396	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:35987396T>C	ENST00000490799.1	-	2	442	c.89A>G	c.(88-90)tAc>tGc	p.Y30C	SLC26A8_ENST00000394602.2_Missense_Mutation_p.Y30C|SLC26A8_ENST00000355574.2_Missense_Mutation_p.Y30C	NM_052961.3	NP_443193.1	Q96RN1	S26A8_HUMAN	solute carrier family 26 (anion exchanger), member 8	30					cell differentiation|meiosis|multicellular organismal development|spermatogenesis	integral to membrane|plasma membrane	anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						CTCCTCATTGTATACTTCACG	0.493													6	20					0	0	1	0	0	C	35987396	T	C	35987396	3	2	81	1	0	0	0	0	1	0	0	0	14578	1638	57	3	2899	3	SLC26A8	6	35987396	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	7325	35987396	135127671	5239	8855											
MAPK13	5603	broad.mit.edu	37	6	36103602	36103602	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:36103602C>T	ENST00000211287.4	+	4	643	c.381C>T	c.(379-381)atC>atT	p.I127I	MAPK13_ENST00000490334.1_3'UTR|MAPK13_ENST00000373766.5_Silent_p.I127I|MAPK13_ENST00000373761.6_Silent_p.I127I|MAPK13_ENST00000373759.1_Silent_p.I49I	NM_002754.4	NP_002745.1	O15264	MK13_HUMAN	mitogen-activated protein kinase 13	127	Protein kinase.				cell cycle|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|positive regulation of interleukin-6 production|Ras protein signal transduction|response to stress		ATP binding|MAP kinase activity|protein binding			breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(2)|prostate(2)|skin(1)	12						AGGAGAAGATCCAGTACCTGG	0.552													30	33					0	0	1	0	0	T	36103602	C	T	36103602	2	4	81	1	0	0	0	0	0	0	0	1	9325	845	30	2		2	MAPK13	6	36103602	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	116206	36103602	135011465	5240	8856											
MAPK13	5603	broad.mit.edu	37	6	36107125	36107125	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:36107125G>A	ENST00000211287.4	+	12	1335	c.1073G>A	c.(1072-1074)cGg>cAg	p.R358Q	MAPK13_ENST00000373766.5_3'UTR|MAPK13_ENST00000373761.6_Missense_Mutation_p.R348Q	NM_002754.4	NP_002745.1	O15264	MK13_HUMAN	mitogen-activated protein kinase 13	358					cell cycle|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|positive regulation of interleukin-6 production|Ras protein signal transduction|response to stress		ATP binding|MAP kinase activity|protein binding			breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(2)|prostate(2)|skin(1)	12						AAGGACTCACGGCGCCGGAGT	0.552													28	24					0	0	1	0	0	A	36107125	G	A	36107125	3	1	81	1	0	0	0	0	1	0	0	0	9325	1116	39	1	1119	1	MAPK13	6	36107125	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	3523	36107125	135007942	5241	8857											
BRPF3	27154	broad.mit.edu	37	6	36178155	36178155	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:36178155C>T	ENST00000357641.6	+	6	2282	c.2029C>T	c.(2029-2031)Cga>Tga	p.R677*	BRPF3_ENST00000543502.1_Nonsense_Mutation_p.R677*|BRPF3_ENST00000534694.1_Nonsense_Mutation_p.R677*|BRPF3_ENST00000339717.7_Nonsense_Mutation_p.R677*|BRPF3_ENST00000534400.1_Nonsense_Mutation_p.R677*|BRPF3_ENST00000443324.2_Nonsense_Mutation_p.R677*	NM_015695.2	NP_056510.2	Q9ULD4	BRPF3_HUMAN	bromodomain and PHD finger containing, 3	677					histone H3 acetylation|platelet activation|platelet degranulation	cytosol|extracellular region|MOZ/MORF histone acetyltransferase complex	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	40						AATTTTCCACCGAGCAGCTGT	0.572													17	34					0	0	1	0	0	T	36178155	C	T	36178155	4	4	81	1	0	0	0	0	0	1	0	0	1523	644	23	1	2047	1	BRPF3	6	36178155	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	71030	36178155	134936912	5242	8858											
BRPF3	27154	broad.mit.edu	37	6	36178260	36178260	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:36178260G>A	ENST00000357641.6	+	6	2387	c.2134G>A	c.(2134-2136)Gag>Aag	p.E712K	BRPF3_ENST00000543502.1_Missense_Mutation_p.E712K|BRPF3_ENST00000534694.1_Missense_Mutation_p.E712K|BRPF3_ENST00000339717.7_Missense_Mutation_p.E712K|BRPF3_ENST00000534400.1_Missense_Mutation_p.E712K|BRPF3_ENST00000443324.2_Missense_Mutation_p.E712K	NM_015695.2	NP_056510.2	Q9ULD4	BRPF3_HUMAN	bromodomain and PHD finger containing, 3	712					histone H3 acetylation|platelet activation|platelet degranulation	cytosol|extracellular region|MOZ/MORF histone acetyltransferase complex	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	40						TCACCTGCCCGAGTCACCCAA	0.652													24	34					0	0	1	0	0	A	36178260	G	A	36178260	3	1	81	1	0	0	0	0	1	0	0	0	1523	1059	37	1	2152	1	BRPF3	6	36178260	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	105	36178260	134936807	5243	8859											
PNPLA1	285848	broad.mit.edu	37	6	36262002	36262002	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:36262002C>A	ENST00000394571.2	+	4	540	c.540C>A	c.(538-540)ccC>ccA	p.P180P	PNPLA1_ENST00000388715.3_Silent_p.P85P|PNPLA1_ENST00000312917.5_Silent_p.P94P	NM_001145717.1	NP_001139189.2	Q8N8W4	PLPL1_HUMAN	patatin-like phospholipase domain containing 1	180	Patatin.				lipid catabolic process		hydrolase activity			breast(1)|kidney(1)|large_intestine(4)|lung(9)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	22						GCATGCAGCCCTGTGCCTTCT	0.622													15	31					2.23348e-06	2.55658e-06	1	1	0	A	36262002	C	A	36262002	2	1	81	1	0	0	0	0	0	0	0	1	12212	668	24	4		4	PNPLA1	6	36262002	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	83742	36262002	134853065	5244	8860											
PNPLA1	285848	broad.mit.edu	37	6	36270205	36270205	+	Missense_Mutation	SNP	C	C	A	rs141744967	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:36270205C>A	ENST00000394571.2	+	6	1343	c.1343C>A	c.(1342-1344)gCt>gAt	p.A448D	PNPLA1_ENST00000388715.3_Missense_Mutation_p.A353D|PNPLA1_ENST00000312917.5_Missense_Mutation_p.A362D	NM_001145717.1	NP_001139189.2	Q8N8W4	PLPL1_HUMAN	patatin-like phospholipase domain containing 1	448	Pro-rich.				lipid catabolic process		hydrolase activity			breast(1)|kidney(1)|large_intestine(4)|lung(9)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	22						GCCTTCCCTGCTCAGCCACCT	0.582											OREG0017382	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	60	68					5.62145e-24	7.41505e-24	1	1	0	A	36270205	C	A	36270205	3	1	81	1	0	0	0	0	1	0	0	0	12212	797	28	4	1392	4	PNPLA1	6	36270205	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	8203	36270205	134844862	5245	8861											
C6orf222	389384	broad.mit.edu	37	6	36298234	36298234	+	Silent	SNP	G	G	A	rs138487840	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:36298234G>A	ENST00000437635.2	-	2	411	c.234C>T	c.(232-234)ccC>ccT	p.P78P		NM_001010903.4	NP_001010903.3	P0C671	CF222_HUMAN	chromosome 6 open reading frame 222	78										breast(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(4)|urinary_tract(4)	26						CGGTCTCCTCGGGAGTGGGGG	0.612													31	54					0	0	1	0	0	A	36298234	G	A	36298234	2	1	81	1	0	0	0	0	0	0	0	1	2370	1103	39	1		1	C6orf222	6	36298234	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	28029	36298234	134816833	5246	8862											
ETV7	51513	broad.mit.edu	37	6	36343712	36343712	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:36343712C>A	ENST00000339796.5	-	3	1088	c.243G>T	c.(241-243)gaG>gaT	p.E81D	ETV7_ENST00000538992.1_Intron|ETV7_ENST00000340181.4_Missense_Mutation_p.E81D|ETV7_ENST00000373737.4_Missense_Mutation_p.E81D|ETV7_ENST00000373738.1_Intron	NM_001207035.1	NP_001193964.1	Q9Y603	ETV7_HUMAN	ets variant 7	81	PNT.				organ morphogenesis|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(4)	10						GTCCGTTCATCTCGAACCCGT	0.647													12	72					3.07112e-06	3.5041e-06	1	1	0	A	36343712	C	A	36343712	3	1	81	1	0	0	0	0	1	0	0	0	5312	912	32	4	806	4	ETV7	6	36343712	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	45478	36343712	134771355	5247	8863											
STK38	11329	broad.mit.edu	37	6	36464531	36464531	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:36464531T>C	ENST00000229812.7	-	13	1509	c.1224A>G	c.(1222-1224)tcA>tcG	p.S408S		NM_007271.2	NP_009202.1	Q15208	STK38_HUMAN	serine/threonine kinase 38	408	AGC-kinase C-terminal.				intracellular protein kinase cascade|negative regulation of MAP kinase activity	cytoplasm|MLL5-L complex	ATP binding|magnesium ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine kinase activity			NS(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CATCGAAGTTTGAGGTATCAT	0.378													3	46					0	0	1	0	0	C	36464531	T	C	36464531	2	2	81	1	0	0	0	0	0	0	0	1	15359	1799	63	3		3	STK38	6	36464531	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	120819	36464531	134650536	5248	8864											
C6orf89	221477	broad.mit.edu	37	6	36870003	36870003	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:36870003G>A	ENST00000480824.2	+	4	490	c.196G>A	c.(196-198)Gca>Aca	p.A66T	C6orf89_ENST00000359359.2_5'UTR|C6orf89_ENST00000355190.3_Missense_Mutation_p.A73T|C6orf89_ENST00000373685.1_Missense_Mutation_p.A66T|C6orf89_ENST00000510325.2_Intron			Q6UWU4	CF089_HUMAN	chromosome 6 open reading frame 89	66						integral to membrane				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(2)	15						GTAGGTTCTCGCAACCTTGGG	0.428													19	42					0	0	1	0	0	A	36870003	G	A	36870003	3	1	81	1	0	0	0	0	1	0	0	0	2388	1087	38	1	227	1	C6orf89	6	36870003	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	405472	36870003	134245064	5249	8865											
MTCH1	23787	broad.mit.edu	37	6	36945015	36945015	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:36945015G>A	ENST00000373627.5	-	6	785	c.661C>T	c.(661-663)Cgc>Tgc	p.R221C	MTCH1_ENST00000538808.1_Missense_Mutation_p.R65C|MTCH1_ENST00000373616.5_Missense_Mutation_p.R221C	NM_001271641.1	NP_001258570.1	Q9NZJ7	MTCH1_HUMAN	mitochondrial carrier 1	221					activation of caspase activity|neuronal ion channel clustering|positive regulation of apoptosis|regulation of signal transduction|transport	integral to membrane|mitochondrial inner membrane	protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	6						ACCATGCAGCGCATTGAGATG	0.562											OREG0017393	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	75					0	0	1	0	0	A	36945015	G	A	36945015	3	1	81	1	0	0	0	0	1	0	0	0	9961	1087	38	1	485	1	MTCH1	6	36945015	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	75012	36945015	134170052	5250	8866											
MTCH1	23787	broad.mit.edu	37	6	36945433	36945433	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:36945433C>T	ENST00000373627.5	-	5	750	c.626G>A	c.(625-627)cGc>cAc	p.R209H	MTCH1_ENST00000538808.1_Missense_Mutation_p.R53H|MTCH1_ENST00000373616.5_Missense_Mutation_p.R209H	NM_001271641.1	NP_001258570.1	Q9NZJ7	MTCH1_HUMAN	mitochondrial carrier 1	209					activation of caspase activity|neuronal ion channel clustering|positive regulation of apoptosis|regulation of signal transduction|transport	integral to membrane|mitochondrial inner membrane	protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	6						GGCCAACATGCGGGACACACA	0.662											OREG0017393	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	6					0	0	1	0	0	T	36945433	C	T	36945433	3	4	81	1	0	0	0	0	1	0	0	0	9961	768	27	1	524	1	MTCH1	6	36945433	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	418	36945433	134169634	5251	8867											
MTCH1	23787	broad.mit.edu	37	6	36949365	36949365	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:36949365G>A	ENST00000373627.5	-	2	529	c.405C>T	c.(403-405)taC>taT	p.Y135Y	MTCH1_ENST00000538808.1_Intron|MTCH1_ENST00000373616.5_Splice_Site_p.Y135Y	NM_001271641.1	NP_001258570.1	Q9NZJ7	MTCH1_HUMAN	mitochondrial carrier 1	135					activation of caspase activity|neuronal ion channel clustering|positive regulation of apoptosis|regulation of signal transduction|transport	integral to membrane|mitochondrial inner membrane	protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	6						CACACTCACCGTAGGTGAAGA	0.592													11	14					0	0	1	0	0	A	36949365	G	A	36949365	5	1	81	1	0	0	0	0	0	0	1	0	9961	1159	40	1	757	1	MTCH1	6	36949365	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	3932	36949365	134165702	5252	8868											
MTCH1	23787	broad.mit.edu	37	6	36949430	36949430	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:36949430G>A	ENST00000373627.5	-	2	464	c.340C>T	c.(340-342)Ccc>Tcc	p.P114S	MTCH1_ENST00000538808.1_Intron|MTCH1_ENST00000373616.5_Missense_Mutation_p.P114S	NM_001271641.1	NP_001258570.1	Q9NZJ7	MTCH1_HUMAN	mitochondrial carrier 1	114					activation of caspase activity|neuronal ion channel clustering|positive regulation of apoptosis|regulation of signal transduction|transport	integral to membrane|mitochondrial inner membrane	protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	6						AGGGTGGGGGGCATCGGCTCA	0.577													8	16					0	0	1	0	0	A	36949430	G	A	36949430	3	1	81	1	0	0	0	0	1	0	0	0	9961	1203	42	2	822	2	MTCH1	6	36949430	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	65	36949430	134165637	5253	8869											
PIM1	5292	broad.mit.edu	37	6	37139015	37139015	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:37139015A>C	ENST00000373509.5	+	4	728	c.355A>C	c.(355-357)Atc>Ctc	p.I119L		NM_001243186.1|NM_002648.3	NP_001230115.1|NP_002639.1	P11309	PIM1_HUMAN	pim-1 oncogene	210					cell cycle|cell proliferation|multicellular organismal development|negative regulation of apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|protein autophosphorylation	cytoplasm|nucleus|plasma membrane	ATP binding|manganese ion binding|protein binding|protein serine/threonine kinase activity|transcription factor binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(17)|large_intestine(4)|lung(3)|prostate(2)|skin(2)	30			OV - Ovarian serous cystadenocarcinoma(102;0.241)		Adenosine monophosphate(DB00131)	TTTCGTCCTGATCCTGGAGAG	0.602			T	BCL6	NHL								44	64					0	0	1	0	0	C	37139015	A	C	37139015	3	2	81	1	0	0	0	0	1	0	0	0	11975	333	12	4	369	4	PIM1	6	37139015	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	189585	37139015	133976052	5254	8870											
PIM1	5292	broad.mit.edu	37	6	37139065	37139065	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:37139065A>G	ENST00000373509.5	+	4	778	c.405A>G	c.(403-405)gaA>gaG	p.E135E		NM_001243186.1|NM_002648.3	NP_001230115.1|NP_002639.1	P11309	PIM1_HUMAN	pim-1 oncogene	226	Protein kinase.				cell cycle|cell proliferation|multicellular organismal development|negative regulation of apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|protein autophosphorylation	cytoplasm|nucleus|plasma membrane	ATP binding|manganese ion binding|protein binding|protein serine/threonine kinase activity|transcription factor binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(17)|large_intestine(4)|lung(3)|prostate(2)|skin(2)	30			OV - Ovarian serous cystadenocarcinoma(102;0.241)		Adenosine monophosphate(DB00131)	TCATCACGGAAAGGGGAGCCC	0.632			T	BCL6	NHL								17	103					0	0	1	0	0	G	37139065	A	G	37139065	2	3	81	1	0	0	0	0	0	0	0	1	11975	11	1	3		3	PIM1	6	37139065	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	50	37139065	133976002	5255	8871											
RNF8	9025	broad.mit.edu	37	6	37328321	37328321	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:37328321G>A	ENST00000373479.4	+	2	404	c.211G>A	c.(211-213)Gag>Aag	p.E71K	RNF8_ENST00000394443.4_Missense_Mutation_p.E71K|RNF8_ENST00000479516.1_3'UTR|RNF8_ENST00000469731.1_Missense_Mutation_p.E71K	NM_003958.3|NM_183078.2	NP_003949.1|NP_898901.1	O76064	RNF8_HUMAN	ring finger protein 8, E3 ubiquitin protein ligase	71	FHA.				cell division|double-strand break repair|histone H2A ubiquitination|histone H2B ubiquitination|mitosis|positive regulation of DNA repair|response to ionizing radiation	midbody|nucleus|ubiquitin ligase complex	chromatin binding|histone binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	13						GCAGAATCCTGAGGGCCAATG	0.383													6	63					0	0	1	0	0	A	37328321	G	A	37328321	3	1	81	1	0	0	0	0	1	0	0	0	13552	1291	45	2	217	2	RNF8	6	37328321	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	189256	37328321	133786746	5256	8872											
MDGA1	266727	broad.mit.edu	37	6	37620022	37620022	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:37620022C>A	ENST00000297153.7	-	7	2255	c.1077G>T	c.(1075-1077)gtG>gtT	p.V359V	MDGA1_ENST00000505425.1_Silent_p.V359V|MDGA1_ENST00000434837.3_Silent_p.V359V			Q8NFP4	MDGA1_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 1	359	Ig-like 4.				brain development|neuron migration|spinal cord association neuron differentiation	anchored to plasma membrane				central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	38						GCACTGCATCCACGTGGCACG	0.562													22	32					8.04996e-18	1.041e-17	1	1	0	A	37620022	C	A	37620022	2	1	81	1	0	0	0	0	0	0	0	1	9456	581	21	5		5	MDGA1	6	37620022	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	291701	37620022	133495045	5257	8873											
DNAH8	1769	broad.mit.edu	37	6	38705719	38705719	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:38705719C>T	ENST00000359357.3	+	5	690	c.436C>T	c.(436-438)Ctg>Ttg	p.L146L	DNAH8_ENST00000441566.1_Silent_p.L146L|DNAH8_ENST00000449981.2_Silent_p.L363L					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						GGAGGAAGTGCTGATGGTATG	0.403													7	116					0	0	1	0	0	T	38705719	C	T	38705719	2	4	81	1	0	0	0	0	0	0	0	1	4634	796	28	2		2	DNAH8	6	38705719	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1085697	38705719	132409348	5258	8874											
DNAH8	1769	broad.mit.edu	37	6	38810662	38810662	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:38810662C>T	ENST00000359357.3	+	33	4431	c.4177C>T	c.(4177-4179)Cat>Tat	p.H1393Y	DNAH8_ENST00000441566.1_Missense_Mutation_p.H1393Y|DNAH8_ENST00000449981.2_Missense_Mutation_p.H1610Y					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						ACTCCTTAAACATAAGGATGA	0.358													7	60					0	0	1	0	0	T	38810662	C	T	38810662	3	4	81	1	0	0	0	0	1	0	0	0	4634	478	17	2	4299	2	DNAH8	6	38810662	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	104943	38810662	132304405	5259	8875											
DNAH8	1769	broad.mit.edu	37	6	38879306	38879306	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:38879306A>C	ENST00000359357.3	+	64	9406	c.9152A>C	c.(9151-9153)aAc>aCc	p.N3051T	DNAH8_ENST00000441566.1_Missense_Mutation_p.N3015T|DNAH8_ENST00000449981.2_Missense_Mutation_p.N3268T					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						GGTTATAAAAACATTTATGCT	0.358													4	57					0	0	1	0	0	C	38879306	A	C	38879306	3	2	81	1	0	0	0	0	1	0	0	0	4634	43	2	5	9398	5	DNAH8	6	38879306	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	68644	38879306	132235761	5260	8876											
DNAH8	1769	broad.mit.edu	37	6	38893864	38893864	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:38893864G>T	ENST00000359357.3	+	72	10599	c.10345G>T	c.(10345-10347)Gat>Tat	p.D3449Y	RP1-207H1.3_ENST00000418399.1_RNA|RP1-207H1.3_ENST00000416948.1_RNA|DNAH8_ENST00000441566.1_Missense_Mutation_p.D3413Y|DNAH8_ENST00000449981.2_Missense_Mutation_p.D3666Y					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						ATTACCAGGAGATGATCTCTC	0.418													6	129					5.18039e-06	5.88187e-06	1	1	0	T	38893864	G	T	38893864	3	4	81	1	0	0	0	0	1	0	0	0	4634	942	33	4	10623	4	DNAH8	6	38893864	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	14558	38893864	132221203	5261	8877											
DNAH8	1769	broad.mit.edu	37	6	38905866	38905866	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:38905866G>A	ENST00000359357.3	+	76	11283	c.11029G>A	c.(11029-11031)Gct>Act	p.A3677T	RP1-207H1.3_ENST00000416948.1_RNA|DNAH8_ENST00000441566.1_Missense_Mutation_p.A3641T|DNAH8_ENST00000449981.2_Missense_Mutation_p.A3894T					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						GATCAACGCGGCTCAGGAGGA	0.517													21	31					0	0	1	0	0	A	38905866	G	A	38905866	3	1	81	1	0	0	0	0	1	0	0	0	4634	1203	42	2	11323	2	DNAH8	6	38905866	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	12002	38905866	132209201	5262	8878											
DNAH8	1769	broad.mit.edu	37	6	38905958	38905958	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:38905958G>A	ENST00000359357.3	+	76	11375	c.11121G>A	c.(11119-11121)acG>acA	p.T3707T	RP1-207H1.3_ENST00000416948.1_RNA|DNAH8_ENST00000441566.1_Silent_p.T3671T|DNAH8_ENST00000449981.2_Silent_p.T3924T					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TGTATCAGACGTCATTGGCCC	0.502													36	53					0	0	1	0	0	A	38905958	G	A	38905958	2	1	81	1	0	0	0	0	0	0	0	1	4634	1132	40	1		1	DNAH8	6	38905958	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	92	38905958	132209109	5263	8879											
DNAH8	1769	broad.mit.edu	37	6	38980372	38980372	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:38980372G>T	ENST00000359357.3	+	89	13276	c.13022G>T	c.(13021-13023)aGg>aTg	p.R4341M	DNAH8_ENST00000441566.1_Missense_Mutation_p.R4305M					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TTTGAAGGGAGGCCTAATGTG	0.423													90	135					4.04825e-61	5.45506e-61	1	1	0	T	38980372	G	T	38980372	3	4	81	1	0	0	0	0	1	0	0	0	4634	1000	35	4	13368	4	DNAH8	6	38980372	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	74414	38980372	132134695	5264	8880											
DNAH8	1769	broad.mit.edu	37	6	38998068	38998068	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:38998068G>A	ENST00000359357.3	+	91	13627	c.13373G>A	c.(13372-13374)cGa>cAa	p.R4458Q	DNAH8_ENST00000441566.1_Missense_Mutation_p.R4422Q					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						AAACCCAGGCGAACTGATTTG	0.488													29	26					0	0	1	0	0	A	38998068	G	A	38998068	3	1	81	1	0	0	0	0	1	0	0	0	4634	1058	37	1	13727	1	DNAH8	6	38998068	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	17696	38998068	132116999	5265	8881											
KCNK5	8645	broad.mit.edu	37	6	39159385	39159385	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:39159385G>A	ENST00000359534.3	-	5	1119	c.781C>T	c.(781-783)Cgg>Tgg	p.R261W		NM_003740.3	NP_003731.1	O95279	KCNK5_HUMAN	potassium channel, subfamily K, member 5	261					excretion	integral to plasma membrane	potassium channel activity|voltage-gated ion channel activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(4)|skin(3)	19						TTCCGTCGCCGCCGCCGCTTC	0.572													9	105					0	0	1	0	0	A	39159385	G	A	39159385	3	1	81	1	0	0	0	0	1	0	0	0	8113	1086	38	1	722	1	KCNK5	6	39159385	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	161317	39159385	131955682	5266	8882											
KCNK16	83795	broad.mit.edu	37	6	39284631	39284631	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:39284631G>A	ENST00000425054.2	-	4	587	c.588C>T	c.(586-588)ggC>ggT	p.G196G	KCNK16_ENST00000373227.4_Silent_p.G196G|KCNK16_ENST00000373229.5_Silent_p.G196G|KCNK16_ENST00000507712.1_Silent_p.G131G|KCNK16_ENST00000437525.2_Silent_p.G196G	NM_001135105.1	NP_001128577.1	Q96T55	KCNKG_HUMAN	potassium channel, subfamily K, member 16	196						integral to membrane	potassium channel activity|voltage-gated ion channel activity			large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)	13						TGAAGCTCCAGCCCTCCACAT	0.532													50	94					0	0	1	0	0	A	39284631	G	A	39284631	2	1	81	1	0	0	0	0	0	0	0	1	8107	958	34	2		2	KCNK16	6	39284631	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	125246	39284631	131830436	5267	8883											
KCNK16	83795	broad.mit.edu	37	6	39285629	39285629	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:39285629A>G	ENST00000425054.2	-	3	427	c.428T>C	c.(427-429)cTg>cCg	p.L143P	KCNK16_ENST00000373227.4_Missense_Mutation_p.L143P|KCNK16_ENST00000373229.5_Missense_Mutation_p.L143P|KCNK16_ENST00000507712.1_Missense_Mutation_p.L78P|KCNK16_ENST00000437525.2_Missense_Mutation_p.L143P	NM_001135105.1	NP_001128577.1	Q96T55	KCNKG_HUMAN	potassium channel, subfamily K, member 16	143						integral to membrane	potassium channel activity|voltage-gated ion channel activity			large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)	13						CCCTGTGCCCAGGTGGTTGAG	0.602													3	9					0	0	1	0	0	G	39285629	A	G	39285629	3	3	81	1	0	0	0	0	1	0	0	0	8107	188	7	3	902	3	KCNK16	6	39285629	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	998	39285629	131829438	5268	8884											
KCNK16	83795	broad.mit.edu	37	6	39290160	39290160	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:39290160G>A	ENST00000425054.2	-	1	156	c.157C>T	c.(157-159)Cgc>Tgc	p.R53C	KCNK16_ENST00000373227.4_Missense_Mutation_p.R53C|KCNK16_ENST00000373229.5_Missense_Mutation_p.R53C|KCNK16_ENST00000507712.1_5'UTR|KCNK16_ENST00000437525.2_Missense_Mutation_p.R53C	NM_001135105.1	NP_001128577.1	Q96T55	KCNKG_HUMAN	potassium channel, subfamily K, member 16	53						integral to membrane	potassium channel activity|voltage-gated ion channel activity			large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)	13						TCCAGGAAGCGCAGCTTCTCC	0.592													7	15					0	0	1	0	0	A	39290160	G	A	39290160	3	1	81	1	0	0	0	0	1	0	0	0	8107	1087	38	1	1181	1	KCNK16	6	39290160	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	4531	39290160	131824907	5269	8885											
KIF6	221458	broad.mit.edu	37	6	39507779	39507779	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:39507779C>A	ENST00000287152.7	-	13	1739	c.1645G>T	c.(1645-1647)Gga>Tga	p.G549*	KIF6_ENST00000373216.3_Splice_Site_p.G549*|KIF6_ENST00000373213.4_Splice_Site_p.G388*|KIF6_ENST00000538893.1_Intron|KIF6_ENST00000373215.3_Splice_Site_p.G549*	NM_145027.4	NP_659464.3	Q6ZMV9	KIF6_HUMAN	kinesin family member 6	549					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						GTCAACTGACCTATTTTCTTG	0.418													14	182					1.49906e-05	1.6816e-05	1	1	0	A	39507779	C	A	39507779	5	1	81	1	0	0	0	0	0	0	1	0	8350	695	24	4	843	4	KIF6	6	39507779	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	217619	39507779	131607288	5270	8886											
KIF6	221458	broad.mit.edu	37	6	39554052	39554052	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:39554052C>A	ENST00000287152.7	-	8	1069	c.975G>T	c.(973-975)gaG>gaT	p.E325D	KIF6_ENST00000373216.3_Missense_Mutation_p.E325D|KIF6_ENST00000373213.4_Missense_Mutation_p.E164D|KIF6_ENST00000538893.1_Missense_Mutation_p.E325D|KIF6_ENST00000373215.3_Missense_Mutation_p.E325D	NM_145027.4	NP_659464.3	Q6ZMV9	KIF6_HUMAN	kinesin family member 6	325					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						GATTCCTTTTCTCCAAGGAGA	0.448													5	118					0.0215528	0.0221217	1	1	0	A	39554052	C	A	39554052	3	1	81	1	0	0	0	0	1	0	0	0	8350	912	32	4	1533	4	KIF6	6	39554052	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	46273	39554052	131561015	5271	8887											
MOCS1	4337	broad.mit.edu	37	6	39881125	39881125	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:39881125G>A	ENST00000373186.4	-	5	830	c.693C>T	c.(691-693)gaC>gaT	p.D231D	MOCS1_ENST00000425303.2_Silent_p.D231D|MOCS1_ENST00000308559.7_Silent_p.D231D|MOCS1_ENST00000340692.5_Silent_p.D231D|MOCS1_ENST00000373188.2_Silent_p.D231D|MOCS1_ENST00000432280.2_Silent_p.D202D|MOCS1_ENST00000373195.3_Silent_p.D144D|MOCS1_ENST00000373175.4_Silent_p.D202D	NM_005943.5	NP_005934.2	Q9NZB8	MOCS1_HUMAN	molybdenum cofactor synthesis 1	231	Molybdenum cofactor biosynthesis protein A.				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol|molybdopterin synthase complex|nucleus	4 iron, 4 sulfur cluster binding|catalytic activity|GTP binding|metal ion binding			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	21	Ovarian(28;0.0355)|Colorectal(47;0.196)					AGGCCGCAAAGTCCAGGAGTT	0.567													19	13					0	0	1	0	0	A	39881125	G	A	39881125	2	1	81	1	0	0	0	0	0	0	0	1	9739	1020	36	2		2	MOCS1	6	39881125	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	327073	39881125	131233942	5272	8888											
MOCS1	4337	broad.mit.edu	37	6	39895295	39895295	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:39895295C>T	ENST00000373186.4	-	1	160	c.23G>A	c.(22-24)cGc>cAc	p.R8H	MOCS1_ENST00000425303.2_Missense_Mutation_p.R8H|MOCS1_ENST00000308559.7_Intron|MOCS1_ENST00000340692.5_Intron|MOCS1_ENST00000373188.2_Intron|MOCS1_ENST00000432280.2_Missense_Mutation_p.R8H|MOCS1_ENST00000373195.3_Intron|MOCS1_ENST00000373175.4_Missense_Mutation_p.R8H	NM_005943.5	NP_005934.2	Q9NZB8	MOCS1_HUMAN	molybdenum cofactor synthesis 1	0	Molybdenum cofactor biosynthesis protein A.				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol|molybdopterin synthase complex|nucleus	4 iron, 4 sulfur cluster binding|catalytic activity|GTP binding|metal ion binding			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	21	Ovarian(28;0.0355)|Colorectal(47;0.196)					GACATCTGTGCGGAGCTTCCA	0.592													4	9					0	0	1	0	0	T	39895295	C	T	39895295	3	4	81	1	0	0	0	0	1	0	0	0	9739	768	27	1	1170	1	MOCS1	6	39895295	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	14170	39895295	131219772	5273	8889											
LRFN2	57497	broad.mit.edu	37	6	40400646	40400646	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:40400646G>A	ENST00000338305.6	-	2	749	c.207C>T	c.(205-207)cgC>cgT	p.R69R		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2	69						cell junction|integral to membrane|postsynaptic membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					CAAAGTCCTGGCGGCTGATGT	0.612													20	27					0	0	1	0	0	A	40400646	G	A	40400646	2	1	81	1	0	0	0	0	0	0	0	1	8983	1190	42	2		2	LRFN2	6	40400646	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	505351	40400646	130714421	5274	8890											
UNC5CL	222643	broad.mit.edu	37	6	40996205	40996205	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:40996205C>T	ENST00000244565.3	-	9	1552	c.1464G>A	c.(1462-1464)caG>caA	p.Q488Q	UNC5CL_ENST00000373164.1_Silent_p.Q488Q|UNC5CL_ENST00000470102.1_5'UTR	NM_173561.2	NP_775832.2	Q8IV45	UN5CL_HUMAN	unc-5 homolog C (C. elegans)-like	488	Death.				signal transduction	cytoplasm|integral to membrane				endometrium(1)|kidney(3)|large_intestine(3)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	13	Ovarian(28;0.0418)|Colorectal(47;0.196)					TCAGGTAGTTCTGGATGGCGG	0.667											OREG0017423	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	17					0	0	1	0	0	T	40996205	C	T	40996205	2	4	81	1	0	0	0	0	0	0	0	1	17054	912	32	2		2	UNC5CL	6	40996205	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	595559	40996205	130118862	5275	8891											
UNC5CL	222643	broad.mit.edu	37	6	40998181	40998181	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:40998181C>T	ENST00000244565.3	-	8	1368	c.1280G>A	c.(1279-1281)gGc>gAc	p.G427D	UNC5CL_ENST00000373164.1_Missense_Mutation_p.G427D|UNC5CL_ENST00000470102.1_5'UTR	NM_173561.2	NP_775832.2	Q8IV45	UN5CL_HUMAN	unc-5 homolog C (C. elegans)-like	427	Death.				signal transduction	cytoplasm|integral to membrane				endometrium(1)|kidney(3)|large_intestine(3)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	13	Ovarian(28;0.0418)|Colorectal(47;0.196)					CCAGTCATTGCCGGTGATGCT	0.577													15	24					0	0	1	0	0	T	40998181	C	T	40998181	3	4	81	1	0	0	0	0	1	0	0	0	17054	739	26	2	284	2	UNC5CL	6	40998181	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1976	40998181	130116886	5276	8892											
UNC5CL	222643	broad.mit.edu	37	6	40999435	40999435	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:40999435C>T	ENST00000244565.3	-	6	1192	c.1104G>A	c.(1102-1104)atG>atA	p.M368I	UNC5CL_ENST00000373164.1_Missense_Mutation_p.M368I|UNC5CL_ENST00000470102.1_Intron	NM_173561.2	NP_775832.2	Q8IV45	UN5CL_HUMAN	unc-5 homolog C (C. elegans)-like	368	Interaction with RELA and NFKB1.				signal transduction	cytoplasm|integral to membrane				endometrium(1)|kidney(3)|large_intestine(3)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	13	Ovarian(28;0.0418)|Colorectal(47;0.196)					GGAAGGTGTGCATGGTGACAA	0.552													7	87					0	0	1	0	0	T	40999435	C	T	40999435	3	4	81	1	0	0	0	0	1	0	0	0	17054	710	25	2	468	2	UNC5CL	6	40999435	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1254	40999435	130115632	5277	8893											
UNC5CL	222643	broad.mit.edu	37	6	41000828	41000828	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:41000828C>T	ENST00000244565.3	-	4	832	c.744G>A	c.(742-744)caG>caA	p.Q248Q	UNC5CL_ENST00000373164.1_Silent_p.Q248Q	NM_173561.2	NP_775832.2	Q8IV45	UN5CL_HUMAN	unc-5 homolog C (C. elegans)-like	248	Interaction with RELA and NFKB1.				signal transduction	cytoplasm|integral to membrane				endometrium(1)|kidney(3)|large_intestine(3)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	13	Ovarian(28;0.0418)|Colorectal(47;0.196)					ATACGGCCAGCTGCAGCCATT	0.622													5	9					0	0	1	0	0	T	41000828	C	T	41000828	2	4	81	1	0	0	0	0	0	0	0	1	17054	796	28	2		2	UNC5CL	6	41000828	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1393	41000828	130114239	5278	8894											
APOBEC2	10930	broad.mit.edu	37	6	41029259	41029259	+	Silent	SNP	G	G	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:41029259G>C	ENST00000244669.2	+	2	368	c.324G>C	c.(322-324)ctG>ctC	p.L108L		NM_006789.3	NP_006780.1	Q9Y235	ABEC2_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 2	108					DNA demethylation|mRNA processing		cytidine deaminase activity|RNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|prostate(2)|skin(1)	10	Ovarian(28;0.0418)|Colorectal(47;0.196)					ACACCATCCTGCCAGCCTTCG	0.577													44	71					0	0	1	0	0	C	41029259	G	C	41029259	2	2	81	1	0	0	0	0	0	0	0	1	785	1306	46	5		5	APOBEC2	6	41029259	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	28431	41029259	130085808	5279	8895											
TREML2	79865	broad.mit.edu	37	6	41165904	41165904	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:41165904G>A	ENST00000483722.1	-	2	504	c.319C>T	c.(319-321)Cgc>Tgc	p.R107C		NM_024807.2	NP_079083.2	Q5T2D2	TRML2_HUMAN	triggering receptor expressed on myeloid cells-like 2	107	Ig-like V-type.				T cell activation	cell surface|integral to membrane|plasma membrane	protein binding|receptor activity			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)	18	Ovarian(28;0.0418)|Colorectal(47;0.196)					GAGGTGTTGCGCATGCACCAG	0.627													18	38					0	0	1	0	0	A	41165904	G	A	41165904	3	1	81	1	0	0	0	0	1	0	0	0	16534	1087	38	1	662	1	TREML2	6	41165904	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	136645	41165904	129949163	5280	8896											
MDFI	4188	broad.mit.edu	37	6	41617440	41617440	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:41617440C>T	ENST00000373050.4	+	3	347	c.160C>T	c.(160-162)Cgg>Tgg	p.R54W				Q99750	MDFI_HUMAN	MyoD family inhibitor	115					cytoplasmic sequestering of transcription factor|dorsal/ventral axis specification|negative regulation of DNA binding|negative regulation of transcription from RNA polymerase II promoter|negative regulation of Wnt receptor signaling pathway	cytoplasm|nucleus				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|prostate(2)|skin(1)|urinary_tract(1)	8	Ovarian(28;0.0327)|Colorectal(47;0.121)		Colorectal(64;0.0123)|COAD - Colon adenocarcinoma(64;0.0264)|KIRC - Kidney renal clear cell carcinoma(1;0.138)			CGGCACCAGACGGGCGGGGAA	0.647													16	181					0	0	1	0	0	T	41617440	C	T	41617440	3	4	81	1	0	0	0	0	1	0	0	0	9454	527	19	1	353	1	MDFI	6	41617440	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	451536	41617440	129497627	5281	8897											
MDFI	4188	broad.mit.edu	37	6	41621130	41621130	+	Silent	SNP	C	C	T	rs138239258		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:41621130C>T	ENST00000373050.4	+	4	562	c.375C>T	c.(373-375)tgC>tgT	p.C125C				Q99750	MDFI_HUMAN	MyoD family inhibitor	186					cytoplasmic sequestering of transcription factor|dorsal/ventral axis specification|negative regulation of DNA binding|negative regulation of transcription from RNA polymerase II promoter|negative regulation of Wnt receptor signaling pathway	cytoplasm|nucleus				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|prostate(2)|skin(1)|urinary_tract(1)	8	Ovarian(28;0.0327)|Colorectal(47;0.121)		Colorectal(64;0.0123)|COAD - Colon adenocarcinoma(64;0.0264)|KIRC - Kidney renal clear cell carcinoma(1;0.138)			TCCTGGACTGCGCCACCTGTG	0.657													29	33					0	0	1	0	0	T	41621130	C	T	41621130	2	4	81	1	0	0	0	0	0	0	0	1	9454	776	27	1		1	MDFI	6	41621130	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3690	41621130	129493937	5282	8898											
FRS3	10817	broad.mit.edu	37	6	41738413	41738413	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:41738413G>A	ENST00000373018.3	-	7	1674	c.1423C>T	c.(1423-1425)Cga>Tga	p.R475*	FRS3_ENST00000259748.2_Nonsense_Mutation_p.R475*	NM_006653.3	NP_006644.1	O43559	FRS3_HUMAN	fibroblast growth factor receptor substrate 3	475					fibroblast growth factor receptor signaling pathway	plasma membrane	fibroblast growth factor receptor binding|insulin receptor binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CCATCGTCTCGGGGCAGAGCT	0.632													34	47					0	0	1	0	0	A	41738413	G	A	41738413	4	1	81	1	0	0	0	0	0	1	0	0	6097	1124	39	1	59	1	FRS3	6	41738413	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	117283	41738413	129376654	5283	8899											
FRS3	10817	broad.mit.edu	37	6	41739216	41739216	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:41739216T>C	ENST00000373018.3	-	7	871	c.620A>G	c.(619-621)cAc>cGc	p.H207R	FRS3_ENST00000259748.2_Missense_Mutation_p.H207R	NM_006653.3	NP_006644.1	O43559	FRS3_HUMAN	fibroblast growth factor receptor substrate 3	207					fibroblast growth factor receptor signaling pathway	plasma membrane	fibroblast growth factor receptor binding|insulin receptor binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CTGCAGGCAGTGGCGGCCCCT	0.662													21	43					0	0	1	0	0	C	41739216	T	C	41739216	3	2	81	1	0	0	0	0	1	0	0	0	6097	1696	59	3	862	3	FRS3	6	41739216	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	803	41739216	129375851	5284	8900											
PRICKLE4	29964	broad.mit.edu	37	6	41751912	41751912	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:41751912A>G	ENST00000359201.5	+	3	765	c.176A>G	c.(175-177)aAc>aGc	p.N59S	PRICKLE4_ENST00000394263.1_Missense_Mutation_p.N59S|PRICKLE4_ENST00000394259.1_Missense_Mutation_p.N19S|PRICKLE4_ENST00000458694.1_Missense_Mutation_p.N59S|PRICKLE4_ENST00000394260.1_Missense_Mutation_p.N19S			Q2TBC4	PRIC4_HUMAN	prickle homolog 4 (Drosophila)	19	PET.					nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	13	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CTGGACACCAACCAAGCCCCC	0.547													9	16					0	0	1	0	0	G	41751912	A	G	41751912	3	3	81	1	0	0	0	0	1	0	0	0	12541	43	2	3	182	3	PRICKLE4	6	41751912	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	12696	41751912	129363155	5285	8901											
USP49	25862	broad.mit.edu	37	6	41773651	41773651	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:41773651G>T	ENST00000394253.3	-	3	1400	c.1071C>A	c.(1069-1071)ctC>ctA	p.L357L	USP49_ENST00000373010.1_Silent_p.L357L|USP49_ENST00000297229.2_Silent_p.L357L|USP49_ENST00000373009.3_Silent_p.L357L|USP49_ENST00000373006.1_Silent_p.L357L			Q70CQ1	UBP49_HUMAN	ubiquitin specific peptidase 49	357					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2)|skin(2)	23	Ovarian(28;0.0919)|Colorectal(47;0.121)		STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000309)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			GTTCACGGCAGAGGGAAATGT	0.602													10	23					1.58986e-06	1.82794e-06	1	1	0	T	41773651	G	T	41773651	2	4	81	1	0	0	0	0	0	0	0	1	17140	929	33	4		4	USP49	6	41773651	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	21739	41773651	129341416	5286	8902											
USP49	25862	broad.mit.edu	37	6	41773747	41773747	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:41773747G>A	ENST00000394253.3	-	3	1304	c.975C>T	c.(973-975)tgC>tgT	p.C325C	USP49_ENST00000373010.1_Silent_p.C325C|USP49_ENST00000297229.2_Silent_p.C325C|USP49_ENST00000373009.3_Silent_p.C325C|USP49_ENST00000373006.1_Silent_p.C325C			Q70CQ1	UBP49_HUMAN	ubiquitin specific peptidase 49	325					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2)|skin(2)	23	Ovarian(28;0.0919)|Colorectal(47;0.121)		STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000309)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CCTCCCGCTCGCATGCCTCGG	0.582													10	19					0	0	1	0	0	A	41773747	G	A	41773747	2	1	81	1	0	0	0	0	0	0	0	1	17140	1079	38	1		1	USP49	6	41773747	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	96	41773747	129341320	5287	8903											
USP49	25862	broad.mit.edu	37	6	41773953	41773953	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:41773953T>C	ENST00000394253.3	-	3	1098	c.769A>G	c.(769-771)Aac>Gac	p.N257D	USP49_ENST00000373010.1_Missense_Mutation_p.N257D|USP49_ENST00000297229.2_Missense_Mutation_p.N257D|USP49_ENST00000373009.3_Missense_Mutation_p.N257D|USP49_ENST00000373006.1_Missense_Mutation_p.N257D			Q70CQ1	UBP49_HUMAN	ubiquitin specific peptidase 49	257					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2)|skin(2)	23	Ovarian(28;0.0919)|Colorectal(47;0.121)		STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000309)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			TTGCCCAGGTTGCGCAGGCCC	0.647													13	39					0	0	1	0	0	C	41773953	T	C	41773953	3	2	81	1	0	0	0	0	1	0	0	0	17140	1812	63	3	1169	3	USP49	6	41773953	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	206	41773953	129341114	5288	8904											
TRERF1	55809	broad.mit.edu	37	6	42224502	42224502	+	Silent	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:42224502A>T	ENST00000541110.1	-	12	3172	c.2604T>A	c.(2602-2604)gcT>gcA	p.A868A	TRERF1_ENST00000340840.2_Silent_p.A765A|TRERF1_ENST00000372922.4_Silent_p.A848A|TRERF1_ENST00000372917.4_Silent_p.A765A|TRERF1_ENST00000354325.2_Silent_p.A765A			Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	848	ELM2.|Interacts with CREBBP.				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			GAGAGTGCAAAGCAAATTCAG	0.418													6	38					0	0	1	0	0	T	42224502	A	T	42224502	2	4	81	1	0	0	0	0	0	0	0	1	16536	59	3	5		5	TRERF1	6	42224502	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	450549	42224502	128890565	5289	8905											
TRERF1	55809	broad.mit.edu	37	6	42236363	42236363	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:42236363C>A	ENST00000541110.1	-	5	1534	c.966G>T	c.(964-966)caG>caT	p.Q322H	TRERF1_ENST00000340840.2_Missense_Mutation_p.Q322H|TRERF1_ENST00000372922.4_Missense_Mutation_p.Q322H|TRERF1_ENST00000372917.4_Missense_Mutation_p.Q322H|TRERF1_ENST00000354325.2_Missense_Mutation_p.Q322H			Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	322	Gln-rich.				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			ACTGAGGTATCTGCATTGAAC	0.587													5	73					1.23904e-05	1.39156e-05	1	1	0	A	42236363	C	A	42236363	3	1	81	1	0	0	0	0	1	0	0	0	16536	912	32	4	2692	4	TRERF1	6	42236363	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	11861	42236363	128878704	5290	8906											
CNPY3	10695	broad.mit.edu	37	6	42902286	42902286	+	Silent	SNP	G	G	A	rs75557671	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:42902286G>A	ENST00000372836.4	+	2	596	c.225G>A	c.(223-225)acG>acA	p.T75T	CNPY3_ENST00000394142.3_Intron	NM_006586.3	NP_006577.2	Q9BT09	CNPY3_HUMAN	canopy FGF signaling regulator 3	75	Saposin B-type.				innate immune response	endoplasmic reticulum				central_nervous_system(1)|endometrium(1)|lung(3)|ovary(1)	6	Colorectal(47;0.196)		all cancers(41;0.000954)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|OV - Ovarian serous cystadenocarcinoma(102;0.0218)|Kidney(15;0.0388)			TGATTGGCACGGGCTATGGCA	0.562													16	27					0	0	1	0	0	A	42902286	G	A	42902286	2	1	81	1	0	0	0	0	0	0	0	1	3652	1103	39	1		1	CNPY3	6	42902286	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	665923	42902286	128212781	5291	8907											
PEX6	5190	broad.mit.edu	37	6	42934528	42934528	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:42934528C>A	ENST00000304611.8	-	9	2022	c.1953G>T	c.(1951-1953)aaG>aaT	p.K651N	PEX6_ENST00000244546.4_Missense_Mutation_p.K651N	NM_000287.3	NP_000278.3	Q13608	PEX6_HUMAN	peroxisomal biogenesis factor 6	651					protein import into peroxisome matrix, translocation|protein stabilization	cytosol|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(3)	15			all cancers(41;0.00235)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0562)			ACCCTGAGTTCTTGATCCTGG	0.572													10	257					2.80697e-09	3.37799e-09	1	1	0	A	42934528	C	A	42934528	3	1	81	1	0	0	0	0	1	0	0	0	11798	912	32	4	1025	4	PEX6	6	42934528	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	32242	42934528	128180539	5292	8908											
PEX6	5190	broad.mit.edu	37	6	42936095	42936095	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:42936095G>A	ENST00000304611.8	-	7	1690	c.1621C>T	c.(1621-1623)Ctg>Ttg	p.L541L	PEX6_ENST00000244546.4_Silent_p.L541L	NM_000287.3	NP_000278.3	Q13608	PEX6_HUMAN	peroxisomal biogenesis factor 6	541					protein import into peroxisome matrix, translocation|protein stabilization	cytosol|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(3)	15			all cancers(41;0.00235)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0562)			TCCTCACCCAGCCCATCACGG	0.622													18	27					0	0	1	0	0	A	42936095	G	A	42936095	2	1	81	1	0	0	0	0	0	0	0	1	11798	962	34	2		2	PEX6	6	42936095	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1567	42936095	128178972	5293	8909											
PPP2R5D	5528	broad.mit.edu	37	6	42975016	42975016	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:42975016C>T	ENST00000485511.1	+	5	784	c.605C>T	c.(604-606)aCc>aTc	p.T202I	PPP2R5D_ENST00000472118.1_Missense_Mutation_p.T194I|PPP2R5D_ENST00000394110.3_Missense_Mutation_p.T170I|PPP2R5D_ENST00000461010.1_Missense_Mutation_p.T96I	NM_001270476.1|NM_006245.3	NP_001257405.1|NP_006236.1	Q14738	2A5D_HUMAN	protein phosphatase 2, regulatory subunit B', delta	202					nervous system development|signal transduction	cytoplasm|nucleus|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	25			Colorectal(64;0.00237)|all cancers(41;0.00411)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0664)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			GATGAGCCCACCCTGGAAGCT	0.612													36	65					0	0	1	0	0	T	42975016	C	T	42975016	3	4	81	1	0	0	0	0	1	0	0	0	12444	507	18	2	623	2	PPP2R5D	6	42975016	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	38921	42975016	128140051	5294	8910											
PPP2R5D	5528	broad.mit.edu	37	6	42975803	42975803	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:42975803G>T	ENST00000485511.1	+	7	1036	c.857G>T	c.(856-858)aGg>aTg	p.R286M	PPP2R5D_ENST00000472118.1_Splice_Site_p.R278M|PPP2R5D_ENST00000394110.3_Splice_Site_p.R254M|PPP2R5D_ENST00000461010.1_Splice_Site_p.R180M	NM_001270476.1|NM_006245.3	NP_001257405.1|NP_006236.1	Q14738	2A5D_HUMAN	protein phosphatase 2, regulatory subunit B', delta	286					nervous system development|signal transduction	cytoplasm|nucleus|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	25			Colorectal(64;0.00237)|all cancers(41;0.00411)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0664)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			ATCTTCTACAGGTGAGGCCAG	0.557													9	88					7.48243e-07	8.64403e-07	1	1	0	T	42975803	G	T	42975803	5	4	81	1	0	0	0	0	0	0	1	0	12444	1014	35	4	883	4	PPP2R5D	6	42975803	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	787	42975803	128139264	5295	8911											
MEA1	4201	broad.mit.edu	37	6	42980865	42980865	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:42980865C>A	ENST00000244711.3	-	2	445	c.291G>T	c.(289-291)caG>caT	p.Q97H		NM_014623.2	NP_055438.1	Q16626	MEA1_HUMAN	male-enhanced antigen 1	97					cell differentiation|male gonad development|spermatogenesis		protein binding			central_nervous_system(1)|large_intestine(3)|lung(1)|skin(1)	6			Colorectal(64;0.00237)|all cancers(41;0.00411)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0664)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			GGATTCGATCCTGGATGTCAG	0.577													41	56					2.95478e-19	3.8452e-19	1	1	0	A	42980865	C	A	42980865	3	1	81	1	0	0	0	0	1	0	0	0	9470	680	24	4	278	4	MEA1	6	42980865	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	5062	42980865	128134202	5296	8912											
KLHDC3	116138	broad.mit.edu	37	6	42986283	42986283	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:42986283G>T	ENST00000326974.4	+	6	917	c.722G>T	c.(721-723)aGc>aTc	p.S241I	KLHDC3_ENST00000332245.8_Missense_Mutation_p.S182I|KLHDC3_ENST00000244670.8_Missense_Mutation_p.S107I	NM_057161.3	NP_476502.1	Q9BQ90	KLDC3_HUMAN	kelch domain containing 3	241					reciprocal meiotic recombination	cytoplasm|nuclear chromatin	chromatin binding|protein binding			cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	9			Colorectal(64;0.00237)|all cancers(41;0.0034)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0539)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			GGGCGCCGGAGCCACTCGGCC	0.557													7	151					1.06961e-07	1.25755e-07	1	1	0	T	42986283	G	T	42986283	3	4	81	1	0	0	0	0	1	0	0	0	8400	971	34	4	740	4	KLHDC3	6	42986283	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	5418	42986283	128128784	5297	8913											
CUL7	9820	broad.mit.edu	37	6	43006088	43006088	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:43006088G>A	ENST00000535468.1	-	25	5028	c.4942C>T	c.(4942-4944)Cgg>Tgg	p.R1648W	CUL7_ENST00000265348.3_Missense_Mutation_p.R1564W	NM_001168370.1|NM_014780.4	NP_001161842.1|NP_055595.2	Q14999	CUL7_HUMAN	cullin 7	1564					interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis	anaphase-promoting complex|mitochondrion	ubiquitin protein ligase binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			AGAAGATTCCGTCTCTTCTCC	0.572													13	31					0	0	1	0	0	A	43006088	G	A	43006088	3	1	81	1	0	0	0	0	1	0	0	0	4083	1144	40	1	414	1	CUL7	6	43006088	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	19805	43006088	128108979	5298	8914											
CUL7	9820	broad.mit.edu	37	6	43010902	43010902	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:43010902G>A	ENST00000535468.1	-	18	3710	c.3624C>T	c.(3622-3624)agC>agT	p.S1208S	CUL7_ENST00000265348.3_Silent_p.S1124S	NM_001168370.1|NM_014780.4	NP_001161842.1|NP_055595.2	Q14999	CUL7_HUMAN	cullin 7	1124					interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis	anaphase-promoting complex|mitochondrion	ubiquitin protein ligase binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			TCCAGTCGTGGCTTCTGTTTC	0.617													13	16					0	0	1	0	0	A	43010902	G	A	43010902	2	1	81	1	0	0	0	0	0	0	0	1	4083	1194	42	2		2	CUL7	6	43010902	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	4814	43010902	128104165	5299	8915											
CUL7	9820	broad.mit.edu	37	6	43011309	43011309	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:43011309C>T	ENST00000535468.1	-	17	3570	c.3484G>A	c.(3484-3486)Gct>Act	p.A1162T	CUL7_ENST00000265348.3_Missense_Mutation_p.A1078T	NM_001168370.1|NM_014780.4	NP_001161842.1|NP_055595.2	Q14999	CUL7_HUMAN	cullin 7	1078					interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis	anaphase-promoting complex|mitochondrion	ubiquitin protein ligase binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			TTGAAGACAGCTTCCTGACAC	0.607													5	12					0	0	1	0	0	T	43011309	C	T	43011309	3	4	81	1	0	0	0	0	1	0	0	0	4083	797	28	2	1904	2	CUL7	6	43011309	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	407	43011309	128103758	5300	8916											
MRPL2	51069	broad.mit.edu	37	6	43023921	43023921	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:43023921C>T	ENST00000388752.3	-	4	842	c.418G>A	c.(418-420)Gct>Act	p.A140T	MRPL2_ENST00000230413.5_Missense_Mutation_p.A140T|MRPL2_ENST00000489623.1_Intron	NM_015950.3	NP_057034.2	Q5T653	RM02_HUMAN	mitochondrial ribosomal protein L2	140					translation	mitochondrion|ribosome	structural constituent of ribosome			breast(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(2)	9		Ovarian(999;0.0014)	Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|all cancers(41;0.00708)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)	BRCA - Breast invasive adenocarcinoma(397;0.0026)		GCAACCAGAGCTATGTCTGCT	0.522													21	41					0	0	1	0	0	T	43023921	C	T	43023921	3	4	81	1	0	0	0	0	1	0	0	0	9834	797	28	2	515	2	MRPL2	6	43023921	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	12612	43023921	128091146	5301	8917											
PTK7	5754	broad.mit.edu	37	6	43106885	43106885	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:43106885C>T	ENST00000230419.4	+	9	1595	c.1374C>T	c.(1372-1374)ttC>ttT	p.F458F	PTK7_ENST00000349241.2_Intron|PTK7_ENST00000352931.2_Silent_p.F458F|PTK7_ENST00000481273.1_Silent_p.F466F|PTK7_ENST00000345201.2_Silent_p.F458F	NM_002821.4	NP_002812.2	Q13308	PTK7_HUMAN	protein tyrosine kinase 7	458	Ig-like C2-type 5.				actin cytoskeleton reorganization|canonical Wnt receptor signaling pathway|cell adhesion|cell migration	cell-cell junction|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			ACTCACGGTTCGAGGTCTTCA	0.592													8	10					0	0	1	0	0	T	43106885	C	T	43106885	2	4	81	1	0	0	0	0	0	0	0	1	12815	883	31	1		1	PTK7	6	43106885	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	82964	43106885	128008182	5302	8918											
SRF	6722	broad.mit.edu	37	6	43143694	43143694	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:43143694C>T	ENST00000265354.4	+	3	1389	c.1031C>T	c.(1030-1032)aCc>aTc	p.T344I	SRF_ENST00000457278.2_Missense_Mutation_p.T140I	NM_003131.2	NP_003122.1	P11831	SRF_HUMAN	serum response factor (c-fos serum response element-binding transcription factor)	344					angiogenesis involved in wound healing|cell migration involved in sprouting angiogenesis|cellular senescence|heart looping|muscle cell homeostasis|neuron development|positive regulation of cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription via serum response element binding|regulation of smooth muscle cell differentiation|response to cytokine stimulus|response to hormone stimulus|response to toxin|transcription from RNA polymerase II promoter|trophectodermal cell differentiation	endoplasmic reticulum	protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|serum response element binding|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	12			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.011)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			ACCAGCTTCACCCTCATGCCT	0.587													13	21					0	0	1	0	0	T	43143694	C	T	43143694	3	4	81	1	0	0	0	0	1	0	0	0	15199	507	18	2	1041	2	SRF	6	43143694	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	36809	43143694	127971373	5303	8919											
CUL9	23113	broad.mit.edu	37	6	43153263	43153263	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:43153263G>A	ENST00000252050.4	+	3	749	c.665G>A	c.(664-666)aGt>aAt	p.S222N	CUL9_ENST00000372647.2_Missense_Mutation_p.S222N|CUL9_ENST00000354495.3_Missense_Mutation_p.S222N	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	222					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						GATTTTGACAGTCGCTATACA	0.507													4	44					0	0	1	0	0	A	43153263	G	A	43153263	3	1	81	1	0	0	0	0	1	0	0	0	4084	1029	36	2	671	2	CUL9	6	43153263	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	9569	43153263	127961804	5304	8920											
CUL9	23113	broad.mit.edu	37	6	43168246	43168246	+	Missense_Mutation	SNP	C	C	T	rs148664624	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:43168246C>T	ENST00000252050.4	+	15	3541	c.3457C>T	c.(3457-3459)Ctc>Ttc	p.L1153F	CUL9_ENST00000372647.2_Missense_Mutation_p.L1153F|CUL9_ENST00000354495.3_Missense_Mutation_p.L1043F	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	1153	DOC.				ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						TGATGTGTTCCTCAGGCATCT	0.542													18	23					0	0	1	0	0	T	43168246	C	T	43168246	3	4	81	1	0	0	0	0	1	0	0	0	4084	681	24	2	3511	2	CUL9	6	43168246	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	14983	43168246	127946821	5305	8921											
CUL9	23113	broad.mit.edu	37	6	43172550	43172550	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:43172550C>T	ENST00000252050.4	+	22	4488	c.4404C>T	c.(4402-4404)agC>agT	p.S1468S	CUL9_ENST00000372647.2_Silent_p.S1468S|CUL9_ENST00000354495.3_Silent_p.S1358S	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	1468					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						CAAGCAGCAGCCTGAGGAACA	0.592													45	85					0	0	1	0	0	T	43172550	C	T	43172550	2	4	81	1	0	0	0	0	0	0	0	1	4084	738	26	2		2	CUL9	6	43172550	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	4304	43172550	127942517	5306	8922											
CUL9	23113	broad.mit.edu	37	6	43181530	43181530	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:43181530C>T	ENST00000252050.4	+	29	5652	c.5568C>T	c.(5566-5568)aaC>aaT	p.N1856N	CUL9_ENST00000502937.1_3'UTR|CUL9_ENST00000372647.2_Intron|CUL9_ENST00000354495.3_Silent_p.N1746N	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	1856				Missing (in Ref. 3; CAH18696).	ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						CATACCTGAACGTAGAGAAGG	0.587													24	34					0	0	1	0	0	T	43181530	C	T	43181530	2	4	81	1	0	0	0	0	0	0	0	1	4084	535	19	1		1	CUL9	6	43181530	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	8980	43181530	127933537	5307	8923											
CUL9	23113	broad.mit.edu	37	6	43190124	43190124	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:43190124C>T	ENST00000252050.4	+	36	7001	c.6917C>T	c.(6916-6918)gCg>gTg	p.A2306V	CUL9_ENST00000372647.2_Missense_Mutation_p.A2278V|CUL9_ENST00000354495.3_Missense_Mutation_p.A2196V|RP3-330M21.5_ENST00000500590.1_RNA	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	2306					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						CATCACCAGGCGCGGGTGAGT	0.602													18	31					0	0	1	0	0	T	43190124	C	T	43190124	3	4	81	1	0	0	0	0	1	0	0	0	4084	768	27	1	7055	1	CUL9	6	43190124	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	8594	43190124	127924943	5308	8924											
TTBK1	84630	broad.mit.edu	37	6	43223591	43223591	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:43223591C>T	ENST00000259750.4	+	9	941	c.858C>T	c.(856-858)taC>taT	p.Y286Y	TTBK1_ENST00000304139.5_Silent_p.Y235Y	NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	286	Protein kinase.					cell junction|cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			AGCCCGACTACCAGGTGGGAG	0.617													13	36					0	0	1	0	0	T	43223591	C	T	43223591	2	4	81	1	0	0	0	0	0	0	0	1	16738	518	18	2		2	TTBK1	6	43223591	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	33467	43223591	127891476	5309	8925											
TTBK1	84630	broad.mit.edu	37	6	43251565	43251565	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:43251565G>A	ENST00000259750.4	+	14	3170	c.3087G>A	c.(3085-3087)ccG>ccA	p.P1029P		NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	1029						cell junction|cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			CGGTGTCCCCGCTGGAGCCAA	0.677													19	30					0	0	1	0	0	A	43251565	G	A	43251565	2	1	81	1	0	0	0	0	0	0	0	1	16738	1074	38	1		1	TTBK1	6	43251565	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	27974	43251565	127863502	5310	8926											
SLC22A7	10864	broad.mit.edu	37	6	43269964	43269964	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:43269964G>A	ENST00000372585.5	+	8	1183	c.1088G>A	c.(1087-1089)gGc>gAc	p.G363D	SLC22A7_ENST00000372574.3_Missense_Mutation_p.G361D|SLC22A7_ENST00000372589.3_Missense_Mutation_p.G361D	NM_153320.2	NP_696961.2	Q9Y694	S22A7_HUMAN	solute carrier family 22 (organic anion transporter), member 7	363						basolateral plasma membrane|integral to plasma membrane|membrane fraction	anion:anion antiporter activity|sodium-independent organic anion transmembrane transporter activity			NS(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(3)	26			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)			TCCTATTACGGCCTGAGTCTG	0.567													28	41					0	0	1	0	0	A	43269964	G	A	43269964	3	1	81	1	0	0	0	0	1	0	0	0	14514	1203	42	2	1114	2	SLC22A7	6	43269964	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	18399	43269964	127845103	5311	8927											
SLC22A7	10864	broad.mit.edu	37	6	43270068	43270068	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:43270068C>T	ENST00000372585.5	+	8	1287	c.1192C>T	c.(1192-1194)Cgc>Tgc	p.R398C	SLC22A7_ENST00000372574.3_Missense_Mutation_p.R396C|SLC22A7_ENST00000372589.3_Missense_Mutation_p.R396C	NM_153320.2	NP_696961.2	Q9Y694	S22A7_HUMAN	solute carrier family 22 (organic anion transporter), member 7	398						basolateral plasma membrane|integral to plasma membrane|membrane fraction	anion:anion antiporter activity|sodium-independent organic anion transmembrane transporter activity	p.R398C(1)		NS(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(3)	26			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)			CTTGTCGGTGCGCTACGCAGG	0.637													6	19					0	0	1	0	0	T	43270068	C	T	43270068	3	4	81	1	0	0	0	0	1	0	0	0	14514	768	27	1	1218	1	SLC22A7	6	43270068	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	104	43270068	127844999	5312	8928											
ZNF318	24149	broad.mit.edu	37	6	43306331	43306331	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:43306331C>A	ENST00000361428.2	-	10	5482	c.5405G>T	c.(5404-5406)gGa>gTa	p.G1802V	ZNF318_ENST00000318149.3_Intron	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	1802					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			GCTGTGGGGTCCAATGCTGGT	0.423													6	57					0.00307968	0.00324365	1	1	0	A	43306331	C	A	43306331	3	1	81	1	0	0	0	0	1	0	0	0	17893	855	30	5	1438	5	ZNF318	6	43306331	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	36263	43306331	127808736	5313	8929											
ZNF318	24149	broad.mit.edu	37	6	43307115	43307115	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:43307115G>A	ENST00000361428.2	-	10	4698	c.4621C>T	c.(4621-4623)Ccc>Tcc	p.P1541S	ZNF318_ENST00000318149.3_Intron	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	1541	Pro-rich.				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			CTTGAGAGGGGTGGTGGAGGA	0.488													4	41					0	0	1	0	0	A	43307115	G	A	43307115	3	1	81	1	0	0	0	0	1	0	0	0	17893	1261	44	2	2222	2	ZNF318	6	43307115	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	784	43307115	127807952	5314	8930											
ZNF318	24149	broad.mit.edu	37	6	43310568	43310568	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:43310568G>A	ENST00000361428.2	-	7	3199	c.3122C>T	c.(3121-3123)gCc>gTc	p.A1041V	ZNF318_ENST00000318149.3_Missense_Mutation_p.A1041V	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	1041					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			GGGGCTTTCGGCAGGCTTGGG	0.458													29	43					0	0	1	0	0	A	43310568	G	A	43310568	3	1	81	1	0	0	0	0	1	0	0	0	17893	1203	42	2	3733	2	ZNF318	6	43310568	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	3453	43310568	127804499	5315	8931											
ZNF318	24149	broad.mit.edu	37	6	43316061	43316061	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:43316061C>T	ENST00000361428.2	-	6	3150		c.e6+1		ZNF318_ENST00000318149.3_Splice_Site	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318						meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			TGAGTTGTTACCTTGTTGGAG	0.368													66	131					0	0	1	0	0	T	43316061	C	T	43316061	5	4	81	1	0	0	0	0	0	0	1	0	17893	521	18	2	3786	2	ZNF318	6	43316061	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	5493	43316061	127799006	5316	8932											
ZNF318	24149	broad.mit.edu	37	6	43322515	43322515	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:43322515G>A	ENST00000361428.2	-	4	2634	c.2557C>T	c.(2557-2559)Cga>Tga	p.R853*	ZNF318_ENST00000318149.3_Nonsense_Mutation_p.R853*	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	853					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			ATTGAGCCTCGCAGAGACTCT	0.488													22	42					0	0	1	0	0	A	43322515	G	A	43322515	4	1	81	1	0	0	0	0	0	1	0	0	17893	1095	38	1	4310	1	ZNF318	6	43322515	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	6454	43322515	127792552	5317	8933											
ZNF318	24149	broad.mit.edu	37	6	43323412	43323412	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:43323412G>A	ENST00000361428.2	-	4	1737	c.1660C>T	c.(1660-1662)Ccc>Tcc	p.P554S	ZNF318_ENST00000318149.3_Missense_Mutation_p.P554S	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	554					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			CTCCCAAGGGGCTTTGGTACG	0.478													105	144					0	0	1	0	0	A	43323412	G	A	43323412	3	1	81	1	0	0	0	0	1	0	0	0	17893	1203	42	2	5207	2	ZNF318	6	43323412	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	897	43323412	127791655	5318	8934											
ZNF318	24149	broad.mit.edu	37	6	43325153	43325153	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:43325153C>T	ENST00000361428.2	-	3	976	c.899G>A	c.(898-900)cGa>cAa	p.R300Q	ZNF318_ENST00000318149.3_Missense_Mutation_p.R300Q	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	300					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			TCTACGCTGTCGATAGTTGCG	0.517													23	37					0	0	1	0	0	T	43325153	C	T	43325153	3	4	81	1	0	0	0	0	1	0	0	0	17893	884	31	1	5972	1	ZNF318	6	43325153	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1741	43325153	127789914	5319	8935											
ZNF318	24149	broad.mit.edu	37	6	43325297	43325297	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:43325297C>T	ENST00000361428.2	-	3	832	c.755G>A	c.(754-756)cGg>cAg	p.R252Q	ZNF318_ENST00000318149.3_Missense_Mutation_p.R252Q	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	252					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			TTCTCGATTCCGTTCTGTTCC	0.453													37	57					0	0	1	0	0	T	43325297	C	T	43325297	3	4	81	1	0	0	0	0	1	0	0	0	17893	652	23	1	6116	1	ZNF318	6	43325297	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	144	43325297	127789770	5320	8936											
ABCC10	89845	broad.mit.edu	37	6	43400140	43400140	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:43400140T>C	ENST00000244533.3	+	1	652	c.293T>C	c.(292-294)tTg>tCg	p.L98S	ABCC10_ENST00000372530.4_Missense_Mutation_p.L141S|ABCC10_ENST00000443426.2_Intron	NM_033450.2	NP_258261.2	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	141						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			CTGGTAGCCTTGCTGCCAGCT	0.657													14	42					0	0	1	0	0	C	43400140	T	C	43400140	3	2	81	1	0	0	0	0	1	0	0	0	50	1821	63	3	295	3	ABCC10	6	43400140	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	74843	43400140	127714927	5321	8937											
ABCC10	89845	broad.mit.edu	37	6	43400775	43400775	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:43400775C>A	ENST00000244533.3	+	1	1287	c.928C>A	c.(928-930)Ctt>Att	p.L310I	ABCC10_ENST00000372530.4_Missense_Mutation_p.L353I|ABCC10_ENST00000443426.2_Intron	NM_033450.2	NP_258261.2	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	353	ABC transmembrane type-1 1.					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			TAAGGTAACACTTCAGGCACG	0.592													20	45					1.87028e-06	2.14967e-06	1	1	0	A	43400775	C	A	43400775	3	1	81	1	0	0	0	0	1	0	0	0	50	565	20	4	930	4	ABCC10	6	43400775	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	635	43400775	127714292	5322	8938											
ABCC10	89845	broad.mit.edu	37	6	43410717	43410717	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:43410717C>A	ENST00000244533.3	+	8	2511	c.2152C>A	c.(2152-2154)Ctc>Atc	p.L718I	ABCC10_ENST00000372530.4_Missense_Mutation_p.L746I	NM_033450.2	NP_258261.2	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	746	ABC transporter 1.					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			GGAAAAGGAGCTCTATCTCCT	0.562													11	26					4.3838e-07	5.09097e-07	1	1	0	A	43410717	C	A	43410717	3	1	81	1	0	0	0	0	1	0	0	0	50	797	28	4	2182	4	ABCC10	6	43410717	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	9942	43410717	127704350	5323	8939											
ABCC10	89845	broad.mit.edu	37	6	43415025	43415025	+	Missense_Mutation	SNP	C	C	T	rs144841064		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:43415025C>T	ENST00000244533.3	+	15	3859	c.3500C>T	c.(3499-3501)aCg>aTg	p.T1167M	ABCC10_ENST00000372530.4_Missense_Mutation_p.T1195M	NM_033450.2	NP_258261.2	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	1195	ABC transmembrane type-1 2.					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			CTGTCCCTGACGGGCCTGCTC	0.627													33	60					0	0	1	0	0	T	43415025	C	T	43415025	3	4	81	1	0	0	0	0	1	0	0	0	50	536	19	1	3558	1	ABCC10	6	43415025	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	4308	43415025	127700042	5324	8940											
ABCC10	89845	broad.mit.edu	37	6	43416862	43416862	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:43416862C>A	ENST00000244533.3	+	18	4398	c.4039C>A	c.(4039-4041)Ctg>Atg	p.L1347M	ABCC10_ENST00000372530.4_Missense_Mutation_p.L1375M	NM_033450.2	NP_258261.2	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	1375	ABC transporter 2.					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			GGATGGTGAGCTGGGTGAGGG	0.587													8	68					1.58986e-06	1.82794e-06	1	1	0	A	43416862	C	A	43416862	3	1	81	1	0	0	0	0	1	0	0	0	50	796	28	4	4109	4	ABCC10	6	43416862	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1837	43416862	127698205	5325	8941											
TJAP1	93643	broad.mit.edu	37	6	43472904	43472904	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:43472904C>T	ENST00000372444.2	+	11	1388	c.955C>T	c.(955-957)Cgc>Tgc	p.R319C	TJAP1_ENST00000259751.1_Missense_Mutation_p.R319C|TJAP1_ENST00000483640.1_3'UTR|TJAP1_ENST00000438588.2_Missense_Mutation_p.R329C|TJAP1_ENST00000372445.5_Missense_Mutation_p.R329C|TJAP1_ENST00000436109.2_Missense_Mutation_p.R319C|TJAP1_ENST00000372449.1_Missense_Mutation_p.R329C|TJAP1_ENST00000372452.1_Missense_Mutation_p.R319C	NM_001146018.1	NP_001139490.1	Q5JTD0	TJAP1_HUMAN	tight junction associated protein 1 (peripheral)	329	Pro-rich.					Golgi apparatus|tight junction	protein binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|urinary_tract(2)	21	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0122)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			GTATCCTGGCCGCAGGGTAAT	0.617													21	30					0	0	1	0	0	T	43472904	C	T	43472904	3	4	81	1	0	0	0	0	1	0	0	0	15988	652	23	1	1015	1	TJAP1	6	43472904	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	56042	43472904	127642163	5326	8942											
POLR1C	9533	broad.mit.edu	37	6	43484913	43484913	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:43484913C>T	ENST00000372389.3	+	1	154	c.66C>T	c.(64-66)cgC>cgT	p.R22R	POLR1C_ENST00000372344.2_Silent_p.R22R|POLR1C_ENST00000304004.3_Silent_p.R22R	NM_203290.2	NP_976035.1	O15160	RPAC1_HUMAN	polymerase (RNA) I polypeptide C, 30kDa	22					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein dimerization activity			kidney(1)|large_intestine(2)|lung(1)|prostate(1)	5	all_cancers(18;3.79e-05)|Lung NSC(15;0.00217)|all_lung(25;0.00536)		Colorectal(64;0.00245)|all cancers(41;0.00511)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0711)			TTGGGGTTCGCAATGTAAGCC	0.592													5	104					0	0	1	0	0	T	43484913	C	T	43484913	2	4	81	1	0	0	0	0	0	0	0	1	12259	697	25	2		2	POLR1C	6	43484913	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	12009	43484913	127630154	5327	8943											
POLH	5429	broad.mit.edu	37	6	43573029	43573029	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:43573029G>T	ENST00000372236.4	+	9	1342	c.1047G>T	c.(1045-1047)gaG>gaT	p.E349D	POLH_ENST00000372226.1_Missense_Mutation_p.E349D|POLH_ENST00000535400.1_Missense_Mutation_p.E287D	NM_006502.2	NP_006493.1	Q9Y253	POLH_HUMAN	polymerase (DNA directed), eta	349					DNA replication|DNA synthesis involved in DNA repair|regulation of DNA repair|response to UV-C	cytoplasm|nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding			breast(4)|endometrium(5)|kidney(1)|large_intestine(6)|lung(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	21	all_cancers(18;1.89e-05)|Lung NSC(15;0.00161)|all_lung(25;0.004)		all cancers(41;0.000753)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0826)|OV - Ovarian serous cystadenocarcinoma(102;0.167)			AGGAACTAGAGGAGAGACTGA	0.373								DNA polymerases (catalytic subunits)	Xeroderma Pigmentosum				8	15					5.18039e-06	5.88187e-06	1	1	0	T	43573029	G	T	43573029	3	4	81	1	0	0	0	0	1	0	0	0	12250	991	35	4	1077	4	POLH	6	43573029	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	88116	43573029	127542038	5328	8944											
GTPBP2	54676	broad.mit.edu	37	6	43589768	43589768	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:43589768G>A	ENST00000307126.5	-	11	1603	c.1604C>T	c.(1603-1605)aCg>aTg	p.T535M	GTPBP2_ENST00000476510.1_5'UTR|GTPBP2_ENST00000307114.7_Missense_Mutation_p.T447M	NM_019096.3	NP_061969.3	Q9BX10	GTPB2_HUMAN	GTP binding protein 2	535							GTP binding|GTPase activity	p.T535M(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(18;9.36e-06)|Lung NSC(15;0.00161)|all_lung(25;0.004)		all cancers(41;0.000501)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0826)|OV - Ovarian serous cystadenocarcinoma(102;0.167)			CACCACTGCCGTCTGACGTAC	0.552													5	87					0	0	1	0	0	A	43589768	G	A	43589768	3	1	81	1	0	0	0	0	1	0	0	0	6921	1145	40	1	212	1	GTPBP2	6	43589768	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	16739	43589768	127525299	5329	8945											
GTPBP2	54676	broad.mit.edu	37	6	43589883	43589883	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:43589883C>T	ENST00000307126.5	-	11	1488	c.1489G>A	c.(1489-1491)Gag>Aag	p.E497K	GTPBP2_ENST00000476510.1_5'UTR|GTPBP2_ENST00000307114.7_Missense_Mutation_p.E409K	NM_019096.3	NP_061969.3	Q9BX10	GTPB2_HUMAN	GTP binding protein 2	497							GTP binding|GTPase activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(18;9.36e-06)|Lung NSC(15;0.00161)|all_lung(25;0.004)		all cancers(41;0.000501)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0826)|OV - Ovarian serous cystadenocarcinoma(102;0.167)			GGATTCATCTCCGGGCTCACC	0.582													17	21					0	0	1	0	0	T	43589883	C	T	43589883	3	4	81	1	0	0	0	0	1	0	0	0	6921	864	30	2	327	2	GTPBP2	6	43589883	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	115	43589883	127525184	5330	8946											
GTPBP2	54676	broad.mit.edu	37	6	43590374	43590374	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:43590374C>T	ENST00000307126.5	-	10	1462	c.1463G>A	c.(1462-1464)cGc>cAc	p.R488H	GTPBP2_ENST00000476510.1_5'UTR|GTPBP2_ENST00000307114.7_Missense_Mutation_p.R400H	NM_019096.3	NP_061969.3	Q9BX10	GTPB2_HUMAN	GTP binding protein 2	488							GTP binding|GTPase activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(18;9.36e-06)|Lung NSC(15;0.00161)|all_lung(25;0.004)		all cancers(41;0.000501)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0826)|OV - Ovarian serous cystadenocarcinoma(102;0.167)			CCTCACCTTGCGAAGCAGTGC	0.572													37	80					0	0	1	0	0	T	43590374	C	T	43590374	3	4	81	1	0	0	0	0	1	0	0	0	6921	768	27	1	357	1	GTPBP2	6	43590374	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	491	43590374	127524693	5331	8947											
VEGFA	7422	broad.mit.edu	37	6	43748509	43748509	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:43748509C>T	ENST00000425836.2	+	6	1003	c.1003C>T	c.(1003-1005)Cgc>Tgc	p.R335C	VEGFA_ENST00000372064.4_Intron|VEGFA_ENST00000413642.3_Missense_Mutation_p.R335C|VEGFA_ENST00000518824.1_Intron|VEGFA_ENST00000482630.2_Intron|VEGFA_ENST00000520948.1_Missense_Mutation_p.R155C|VEGFA_ENST00000372055.4_Missense_Mutation_p.R335C|VEGFA_ENST00000372067.3_Intron|VEGFA_ENST00000523873.1_Missense_Mutation_p.R155C|VEGFA_ENST00000523125.1_Intron|VEGFA_ENST00000523950.1_Intron|VEGFA_ENST00000372077.4_Intron|VEGFA_ENST00000457104.2_Intron|VEGFA_ENST00000417285.2_Intron|VEGFA_ENST00000518689.1_Missense_Mutation_p.R155C|VEGFA_ENST00000230480.6_Intron|VEGFA_ENST00000324450.6_Intron			P15692	VEGFA_HUMAN	vascular endothelial growth factor A	155					basophil chemotaxis|cellular response to hypoxia|induction of positive chemotaxis|platelet activation|platelet degranulation|platelet-derived growth factor receptor signaling pathway|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of cell adhesion|positive regulation of cell division|positive regulation of endothelial cell proliferation|positive regulation of leukocyte migration|positive regulation of mast cell chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|positive regulation of vascular permeability|regulation of cell shape|vascular endothelial growth factor receptor signaling pathway|vasculogenesis	cell surface|extracellular space|membrane|platelet alpha granule lumen	cell surface binding|chemoattractant activity|cytokine activity|fibronectin binding|growth factor activity|heparin binding|platelet-derived growth factor receptor binding|protein heterodimerization activity|protein homodimerization activity|vascular endothelial growth factor receptor 1 binding|vascular endothelial growth factor receptor 2 binding|vascular endothelial growth factor receptor binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	9	all_cancers(18;5.46e-07)|all_epithelial(2;5.96e-08)|Lung NSC(15;0.000157)|all_lung(25;0.000486)|Hepatocellular(11;0.00309)		all cancers(41;0.000413)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0742)|OV - Ovarian serous cystadenocarcinoma(102;0.196)		Atorvastatin(DB01076)|Bevacizumab(DB00112)|Carvedilol(DB01136)|Ginkgo biloba(DB01381)|Gliclazide(DB01120)|Minocycline(DB01017)|Ranibizumab(DB01270)|Simvastatin(DB00641)	AAAACGAAAGCGCAAGAAATC	0.547													28	54					0	0	1	0	0	T	43748509	C	T	43748509	3	4	81	1	0	0	0	0	1	0	0	0	17210	768	27	1	1025	1	VEGFA	6	43748509	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	158135	43748509	127366558	5332	8948											
VEGFA	7422	broad.mit.edu	37	6	43749754	43749754	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:43749754A>G	ENST00000372067.3	+	6	1518	c.1024A>G	c.(1024-1026)Aaa>Gaa	p.K342E	VEGFA_ENST00000372064.4_Intron|VEGFA_ENST00000413642.3_Missense_Mutation_p.K360E|VEGFA_ENST00000518824.1_Missense_Mutation_p.K162E|VEGFA_ENST00000482630.2_Missense_Mutation_p.K342E|VEGFA_ENST00000520948.1_Missense_Mutation_p.K186E|VEGFA_ENST00000372055.4_Missense_Mutation_p.K383E|VEGFA_ENST00000425836.2_Missense_Mutation_p.K366E|VEGFA_ENST00000523873.1_Missense_Mutation_p.K203E|VEGFA_ENST00000523125.1_Missense_Mutation_p.K162E|VEGFA_ENST00000523950.1_Missense_Mutation_p.K162E|VEGFA_ENST00000372077.4_Intron|VEGFA_ENST00000457104.2_Intron|VEGFA_ENST00000417285.2_Missense_Mutation_p.K342E|VEGFA_ENST00000518689.1_Missense_Mutation_p.K180E|VEGFA_ENST00000230480.6_Missense_Mutation_p.K134E|VEGFA_ENST00000324450.6_Intron	NM_001025366.2|NM_001025367.2|NM_001025368.2|NM_001025369.2|NM_001033756.2|NM_001171623.1|NM_001171624.1|NM_001171625.1|NM_001171626.1|NM_001171627.1|NM_001171629.1|NM_003376.5	NP_001020537.2|NP_001020538.2|NP_001020539|NP_001020540.2|NP_001028928.1|NP_001165094.1|NP_001165095.1|NP_001165096.1|NP_001165097.1|NP_001165098.1|NP_001165100.1|NP_003367.4	P15692	VEGFA_HUMAN	vascular endothelial growth factor A	203					basophil chemotaxis|cellular response to hypoxia|induction of positive chemotaxis|platelet activation|platelet degranulation|platelet-derived growth factor receptor signaling pathway|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of cell adhesion|positive regulation of cell division|positive regulation of endothelial cell proliferation|positive regulation of leukocyte migration|positive regulation of mast cell chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|positive regulation of vascular permeability|regulation of cell shape|vascular endothelial growth factor receptor signaling pathway|vasculogenesis	cell surface|extracellular space|membrane|platelet alpha granule lumen	cell surface binding|chemoattractant activity|cytokine activity|fibronectin binding|growth factor activity|heparin binding|platelet-derived growth factor receptor binding|protein heterodimerization activity|protein homodimerization activity|vascular endothelial growth factor receptor 1 binding|vascular endothelial growth factor receptor 2 binding|vascular endothelial growth factor receptor binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	9	all_cancers(18;5.46e-07)|all_epithelial(2;5.96e-08)|Lung NSC(15;0.000157)|all_lung(25;0.000486)|Hepatocellular(11;0.00309)		all cancers(41;0.000413)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0742)|OV - Ovarian serous cystadenocarcinoma(102;0.196)		Atorvastatin(DB01076)|Bevacizumab(DB00112)|Carvedilol(DB01136)|Ginkgo biloba(DB01381)|Gliclazide(DB01120)|Minocycline(DB01017)|Ranibizumab(DB01270)|Simvastatin(DB00641)	GCAGACGTGTAAATGTTCCTG	0.493													20	28					0	0	1	0	0	G	43749754	A	G	43749754	3	3	81	1	0	0	0	0	1	0	0	0	17210	363	13	3	1173	3	VEGFA	6	43749754	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	1245	43749754	127365313	5333	8949											
MRPL14	64928	broad.mit.edu	37	6	44081608	44081608	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:44081608A>G	ENST00000372014.3	-	3	541	c.410T>C	c.(409-411)gTg>gCg	p.V137A		NM_032111.2	NP_115487.2	Q6P1L8	RM14_HUMAN	mitochondrial ribosomal protein L14	137					translation	mitochondrion|ribosome	structural constituent of ribosome			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	12	all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0181)			AATGGCCAGCACCTTGGAATA	0.557													17	19					0	0	1	0	0	G	44081608	A	G	44081608	3	3	81	1	0	0	0	0	1	0	0	0	9828	159	6	3	31	3	MRPL14	6	44081608	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	331854	44081608	127033459	5334	8950											
MRPL14	64928	broad.mit.edu	37	6	44081740	44081740	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:44081740C>T	ENST00000372014.3	-	3	409	c.278G>A	c.(277-279)gGc>gAc	p.G93D		NM_032111.2	NP_115487.2	Q6P1L8	RM14_HUMAN	mitochondrial ribosomal protein L14	93					translation	mitochondrion|ribosome	structural constituent of ribosome			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	12	all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0181)			CATTCGGGGGCCAGGCATGCA	0.557													55	91					0	0	1	0	0	T	44081740	C	T	44081740	3	4	81	1	0	0	0	0	1	0	0	0	9828	739	26	2	163	2	MRPL14	6	44081740	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	132	44081740	127033327	5335	8951											
MRPL14	64928	broad.mit.edu	37	6	44081861	44081861	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:44081861G>A	ENST00000372014.3	-	3	288	c.157C>T	c.(157-159)Cgg>Tgg	p.R53W		NM_032111.2	NP_115487.2	Q6P1L8	RM14_HUMAN	mitochondrial ribosomal protein L14	53					translation	mitochondrion|ribosome	structural constituent of ribosome			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	12	all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0181)			CGAGGAGCCCGATGGTATGGG	0.552													21	234					0	0	1	0	0	A	44081861	G	A	44081861	3	1	81	1	0	0	0	0	1	0	0	0	9828	1057	37	1	284	1	MRPL14	6	44081861	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	121	44081861	127033206	5336	8952											
TMEM63B	55362	broad.mit.edu	37	6	44102296	44102296	+	Splice_Site	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:44102296A>G	ENST00000259746.9	+	2	159		c.e2-1		TMEM63B_ENST00000323267.6_Splice_Site			Q5T3F8	TM63B_HUMAN	transmembrane protein 63B							integral to membrane	nucleotide binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(2)|prostate(2)|stomach(4)	35	all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0215)			CCCTCTGCCCAGGAGGACCAT	0.642													5	17					0	0	1	0	0	G	44102296	A	G	44102296	5	3	81	1	0	0	0	0	0	0	1	0	16251	202	7	3		3	TMEM63B	6	44102296	Splice_Site	SNP	A	TCGA-DU-6392-01A-11D-1705-08	20435	44102296	127012771	5337	8953											
CAPN11	11131	broad.mit.edu	37	6	44141025	44141025	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:44141025G>A	ENST00000542245.1	+	7	771	c.733G>A	c.(733-735)Gtg>Atg	p.V245M	CAPN11_ENST00000398776.1_Missense_Mutation_p.V245M			Q9UMQ6	CAN11_HUMAN	calpain 11	245	Calpain catalytic.				proteolysis	acrosomal vesicle	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			breast(3)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	36	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CACAGGAGGCGTGGCCCAGAG	0.597											OREG0017466	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	64					0	0	1	0	0	A	44141025	G	A	44141025	3	1	81	1	0	0	0	0	1	0	0	0	2642	1145	40	1	759	1	CAPN11	6	44141025	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	38729	44141025	126974042	5338	8954											
CAPN11	11131	broad.mit.edu	37	6	44145044	44145044	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:44145044G>A	ENST00000542245.1	+	12	1341	c.1303G>A	c.(1303-1305)Gca>Aca	p.A435T	CAPN11_ENST00000398776.1_Missense_Mutation_p.A435T			Q9UMQ6	CAN11_HUMAN	calpain 11	435	Domain III.				proteolysis	acrosomal vesicle	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			breast(3)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	36	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			AGAGGATGACGCAGAGGGCAA	0.597													8	19					0	0	1	0	0	A	44145044	G	A	44145044	3	1	81	1	0	0	0	0	1	0	0	0	2642	1087	38	1	1349	1	CAPN11	6	44145044	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	4019	44145044	126970023	5339	8955											
HSP90AB1	3326	broad.mit.edu	37	6	44219266	44219266	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:44219266G>A	ENST00000371554.1	+	8	1449	c.1235G>A	c.(1234-1236)tGc>tAc	p.C412Y	HSP90AB1_ENST00000353801.3_Missense_Mutation_p.C412Y|HSP90AB1_ENST00000371646.5_Missense_Mutation_p.C412Y			P08238	HS90B_HUMAN	heat shock protein 90kDa alpha (cytosolic), class B member 1	412					axon guidance|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of nitric oxide biosynthetic process|protein folding|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to unfolded protein	cytosol|melanosome	ATP binding|nitric-oxide synthase regulator activity|TPR domain binding|unfolded protein binding			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(12)|prostate(2)|skin(2)|urinary_tract(2)	33	all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			GTTAAGAAGTGCCTTGAGCTC	0.418													13	14					0	0	1	0	0	A	44219266	G	A	44219266	3	1	81	1	0	0	0	0	1	0	0	0	7445	1319	46	2	1261	2	HSP90AB1	6	44219266	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	74222	44219266	126895801	5340	8956											
NFKBIE	4794	broad.mit.edu	37	6	44227997	44227997	+	Missense_Mutation	SNP	G	G	A	rs145497659		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:44227997G>A	ENST00000275015.5	-	5	1219	c.1220C>T	c.(1219-1221)gCg>gTg	p.A407V		NM_004556.2	NP_004547.2	O00221	IKBE_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, epsilon	407					cytoplasmic sequestering of transcription factor		protein binding			breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|urinary_tract(1)	10	all_cancers(18;2e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CAGGTGCAGCGCTGTCTTACC	0.617													23	33					0	0	1	0	0	A	44227997	G	A	44227997	3	1	81	1	0	0	0	0	1	0	0	0	10427	1087	38	1	290	1	NFKBIE	6	44227997	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	8731	44227997	126887070	5341	8957											
TCTE1	202500	broad.mit.edu	37	6	44250038	44250038	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:44250038G>T	ENST00000371505.4	-	4	1227	c.1105C>A	c.(1105-1107)Cta>Ata	p.L369I	TCTE1_ENST00000371503.3_Intron|RP11-444E17.6_ENST00000505802.1_Intron|TMEM151B_ENST00000438774.2_Intron|TCTE1_ENST00000371504.1_Intron	NM_182539.3	NP_872345.2	Q5JU00	TCTE1_HUMAN	t-complex-associated-testis-expressed 1	369										breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			TTGAGACGTAGGTTGAGGGAA	0.602													10	110					0.000673444	0.000721718	1	1	0	T	44250038	G	T	44250038	3	4	81	1	0	0	0	0	1	0	0	0	15776	991	35	4	408	4	TCTE1	6	44250038	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	22041	44250038	126865029	5342	8958											
TCTE1	202500	broad.mit.edu	37	6	44253802	44253802	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:44253802C>T	ENST00000371505.4	-	3	867	c.745G>A	c.(745-747)Gtc>Atc	p.V249I	TCTE1_ENST00000371503.3_Missense_Mutation_p.V96I|RP11-444E17.6_ENST00000505802.1_Intron|TMEM151B_ENST00000438774.2_Intron|TCTE1_ENST00000371504.1_Missense_Mutation_p.V96I	NM_182539.3	NP_872345.2	Q5JU00	TCTE1_HUMAN	t-complex-associated-testis-expressed 1	249										breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CAGTCCTTGACATCGTACACC	0.587													9	94					0	0	1	0	0	T	44253802	C	T	44253802	3	4	81	1	0	0	0	0	1	0	0	0	15776	478	17	2	772	2	TCTE1	6	44253802	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3764	44253802	126861265	5343	8959											
SUPT3H	8464	broad.mit.edu	37	6	44971423	44971423	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:44971423G>A	ENST00000371460.1	-	8	821	c.504C>T	c.(502-504)gaC>gaT	p.D168D	SUPT3H_ENST00000371459.1_Silent_p.D157D|SUPT3H_ENST00000371461.2_Silent_p.D168D|SUPT3H_ENST00000306867.5_Silent_p.D157D	NM_181356.2	NP_852001.1	O75486	SUPT3_HUMAN	suppressor of Ty 3 homolog (S. cerevisiae)	239					histone deubiquitination|histone H3 acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	STAGA complex|transcription factor TFTC complex	DNA binding|transcription coactivator activity			breast(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)	12						CATCAATTTCGTCATCTTCAA	0.378													28	49					0	0	1	0	0	A	44971423	G	A	44971423	2	1	81	1	0	0	0	0	0	0	0	1	15453	1136	40	1		1	SUPT3H	6	44971423	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	717621	44971423	126143644	5344	8960											
CLIC5	53405	broad.mit.edu	37	6	45870860	45870860	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:45870860A>G	ENST00000185206.6	-	6	1350	c.1198T>C	c.(1198-1200)Tac>Cac	p.Y400H	CLIC5_ENST00000339561.6_Missense_Mutation_p.Y241H	NM_001114086.1	NP_001107558.1	Q9NZA1	CLIC5_HUMAN	chloride intracellular channel 5	400	GST C-terminal.				female pregnancy	actin cytoskeleton|cell cortex|chloride channel complex|Golgi apparatus|insoluble fraction|microtubule organizing center	protein binding|voltage-gated chloride channel activity			endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	13						ACATCAGCGTAGGCCAACTCG	0.587													3	54					0	0	1	0	0	G	45870860	A	G	45870860	3	3	81	1	0	0	0	0	1	0	0	0	3552	420	15	3	38	3	CLIC5	6	45870860	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	899437	45870860	125244207	5345	8961											
ENPP4	22875	broad.mit.edu	37	6	46107349	46107349	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:46107349C>A	ENST00000321037.4	+	2	259	c.29C>A	c.(28-30)tCt>tAt	p.S10Y		NM_014936.4	NP_055751.1	Q9Y6X5	ENPP4_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 4 (putative)	10						integral to membrane	hydrolase activity			central_nervous_system(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	18						CTTTTGTTTTCTGGACTTATA	0.343													5	86					0.000602214	0.000646338	1	1	0	A	46107349	C	A	46107349	3	1	81	1	0	0	0	0	1	0	0	0	5160	913	32	4	31	4	ENPP4	6	46107349	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	236489	46107349	125007718	5346	8962											
ENPP4	22875	broad.mit.edu	37	6	46107506	46107507	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:46107506_46107507insA	ENST00000321037.4	+	2	416_417	c.186_187insA	c.(187-189)aaafs	p.K63fs		NM_014936.4	NP_055751.1	Q9Y6X5	ENPP4_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 4 (putative)	63						integral to membrane	hydrolase activity			central_nervous_system(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	18						TAGAGCATGTTAAAAATGTTTT	0.356													28	68	---	---	---	---						A	46107507	-	A	46107506	7	5	81	1	0	1	1	0	0	0	0	0	5160	1741	61	0	188	0	ENPP4	6	46107506	Frame_Shift_Ins	INS	-	TCGA-DU-6392-01A-11D-1705-08	157	46107506	125007561	5347	8963											
ENPP5	59084	broad.mit.edu	37	6	46129422	46129422	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:46129422A>T	ENST00000371383.2	-	5	1335	c.1075T>A	c.(1075-1077)Ttc>Atc	p.F359I	ENPP5_ENST00000230565.3_Missense_Mutation_p.F359I			Q9UJA9	ENPP5_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 5 (putative)	359						extracellular region|integral to membrane	hydrolase activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	12						TTCTTTCTGAAGGCAGGACCA	0.418													31	347					0	0	1	0	0	T	46129422	A	T	46129422	3	4	81	1	0	0	0	0	1	0	0	0	5161	72	3	5	362	5	ENPP5	6	46129422	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	21916	46129422	124985645	5348	8964											
RCAN2	10231	broad.mit.edu	37	6	46216554	46216554	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:46216554A>G	ENST00000371374.1	-	3	496	c.305T>C	c.(304-306)aTa>aCa	p.I102T	RCAN2_ENST00000330430.6_Missense_Mutation_p.I56T|RCAN2_ENST00000306764.7_Missense_Mutation_p.I102T|RCAN2_ENST00000405162.1_Missense_Mutation_p.I102T	NM_001251974.1	NP_001238903.1	Q14206	RCAN2_HUMAN	regulator of calcineurin 2	56					calcium-mediated signaling|central nervous system development		nucleotide binding|protein phosphatase 2B binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						GCTGAAGTTTATACGGACACG	0.408													26	20					0	0	1	0	0	G	46216554	A	G	46216554	3	3	81	1	0	0	0	0	1	0	0	0	13221	449	16	3	438	3	RCAN2	6	46216554	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	87132	46216554	124898513	5349	8965											
CYP39A1	51302	broad.mit.edu	37	6	46620341	46620341	+	Translation_Start_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:46620341G>T	ENST00000275016.2	-	0	182					NM_016593.3	NP_057677.2	Q9NYL5	CP39A_HUMAN	cytochrome P450, family 39, subfamily A, polypeptide 1						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						GCACCTTCCAGAAGCAGAAAA	0.483													45	76					1.00001e-27	1.32875e-27	1	1	0	T	46620341	G	T	46620341	1	4	81	1	0	0	0	0	0	0	0	0	4200	957	33	4		4	CYP39A1	6	46620341	Translation_Start_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	403787	46620341	124494726	5350	8966											
TDRD6	221400	broad.mit.edu	37	6	46657579	46657579	+	Nonsense_Mutation	SNP	C	C	T	rs141346043		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:46657579C>T	ENST00000544460.1	+	1	1968	c.1714C>T	c.(1714-1716)Cga>Tga	p.R572*	TDRD6_ENST00000316081.6_Nonsense_Mutation_p.R572*	NM_001168359.1	NP_001161831.1	O60522	TDRD6_HUMAN	tudor domain containing 6	572	Tudor 3.				cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			CTTAGTTGACCGAGGCAATTC	0.443													54	97					0	0	1	0	0	T	46657579	C	T	46657579	4	4	81	1	0	0	0	0	0	1	0	0	15793	644	23	1	1716	1	TDRD6	6	46657579	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	37238	46657579	124457488	5351	8967											
MEP1A	4224	broad.mit.edu	37	6	46806765	46806765	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:46806765C>T	ENST00000230588.4	+	14	2142	c.2133C>T	c.(2131-2133)gcC>gcT	p.A711A		NM_005588.2	NP_005579.2	Q16819	MEP1A_HUMAN	meprin A, alpha (PABA peptide hydrolase)	711				AVQ -> SAE (in Ref. 1; AAA21338 and 7; no nucleotide entry).	digestion|proteolysis	extracellular space|integral to plasma membrane|soluble fraction	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42			Lung(136;0.192)			GCTGTCAGGCCGTGCAGGTGC	0.587													39	75					0	0	1	0	0	T	46806765	C	T	46806765	2	4	81	1	0	0	0	0	0	0	0	1	9525	639	23	1		1	MEP1A	6	46806765	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	149186	46806765	124308302	5352	8968											
GPR116	221395	broad.mit.edu	37	6	46826266	46826266	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:46826266G>A	ENST00000283296.7	-	17	3662	c.3374C>T	c.(3373-3375)tCc>tTc	p.S1125F	GPR116_ENST00000362015.4_Missense_Mutation_p.S1125F|GPR116_ENST00000456426.2_Missense_Mutation_p.S983F|GPR116_ENST00000545669.1_Missense_Mutation_p.S554F|GPR116_ENST00000265417.7_Missense_Mutation_p.S1125F	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	1125					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			TTTCTGAGTGGACCTGCTTGT	0.537													11	20					0	0	1	0	0	A	46826266	G	A	46826266	3	1	81	1	0	0	0	0	1	0	0	0	6673	1174	41	2	686	2	GPR116	6	46826266	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	19501	46826266	124288801	5353	8969											
GPR116	221395	broad.mit.edu	37	6	46826811	46826811	+	Silent	SNP	C	C	T	rs144073167		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:46826811C>T	ENST00000283296.7	-	17	3117	c.2829G>A	c.(2827-2829)aaG>aaA	p.K943K	GPR116_ENST00000362015.4_Silent_p.K943K|GPR116_ENST00000456426.2_Silent_p.K801K|GPR116_ENST00000545669.1_Silent_p.K372K|GPR116_ENST00000265417.7_Silent_p.K943K	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	943					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			GGCTATTGTTCTTAAAAGTCA	0.473													36	56					0	0	1	0	0	T	46826811	C	T	46826811	2	4	81	1	0	0	0	0	0	0	0	1	6673	912	32	2		2	GPR116	6	46826811	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	545	46826811	124288256	5354	8970											
GPR116	221395	broad.mit.edu	37	6	46836653	46836653	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:46836653G>T	ENST00000283296.7	-	12	1876	c.1588C>A	c.(1588-1590)Ctg>Atg	p.L530M	GPR116_ENST00000362015.4_Missense_Mutation_p.L530M|GPR116_ENST00000456426.2_Missense_Mutation_p.L388M|GPR116_ENST00000545669.1_De_novo_Start_InFrame|GPR116_ENST00000265417.7_Missense_Mutation_p.L530M	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	530	Ig-like 3.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			TTGACTGTCAGTACTGATTCT	0.438													31	53					4.65686e-17	5.99349e-17	1	1	0	T	46836653	G	T	46836653	3	4	81	1	0	0	0	0	1	0	0	0	6673	1020	36	4	2492	4	GPR116	6	46836653	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	9842	46836653	124278414	5355	8971											
GPR110	266977	broad.mit.edu	37	6	46976733	46976733	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:46976733T>C	ENST00000371253.2	-	11	2653	c.2438A>G	c.(2437-2439)gAc>gGc	p.D813G	GPR110_ENST00000449332.2_5'UTR|GPR110_ENST00000283297.5_Missense_Mutation_p.D616G	NM_153840.2	NP_722582.2	Q5T601	GP110_HUMAN	G protein-coupled receptor 110	813					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	29						ATTCTGGCTGTCCACTATTGT	0.473													18	31					0	0	1	0	0	C	46976733	T	C	46976733	3	2	81	1	0	0	0	0	1	0	0	0	6667	1667	58	3	314	3	GPR110	6	46976733	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	140080	46976733	124138334	5356	8972											
TNFRSF21	27242	broad.mit.edu	37	6	47221096	47221096	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:47221096G>A	ENST00000296861.2	-	4	1798	c.1405C>T	c.(1405-1407)Cgg>Tgg	p.R469W		NM_014452.3	NP_055267.1	O75509	TNR21_HUMAN	tumor necrosis factor receptor superfamily, member 21	469	Death.				cellular lipid metabolic process	cytoplasm|integral to membrane	protein binding|receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(7)|pancreas(1)|skin(2)	21			Lung(136;0.189)			TCGGGGCCCCGGATGGTCCAG	0.607													4	14					0	0	1	0	0	A	47221096	G	A	47221096	3	1	81	1	0	0	0	0	1	0	0	0	16355	1115	39	1	574	1	TNFRSF21	6	47221096	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	244363	47221096	123893971	5357	8973											
TNFRSF21	27242	broad.mit.edu	37	6	47253823	47253823	+	Missense_Mutation	SNP	G	G	A	rs146113475	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:47253823G>A	ENST00000296861.2	-	2	998	c.605C>T	c.(604-606)cCg>cTg	p.P202L		NM_014452.3	NP_055267.1	O75509	TNR21_HUMAN	tumor necrosis factor receptor superfamily, member 21	202					cellular lipid metabolic process	cytoplasm|integral to membrane	protein binding|receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(7)|pancreas(1)|skin(2)	21			Lung(136;0.189)			CTTGGTCCCCGGCTTGATCAC	0.557													9	42					0	0	1	0	0	A	47253823	G	A	47253823	3	1	81	1	0	0	0	0	1	0	0	0	16355	1116	39	1	1382	1	TNFRSF21	6	47253823	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	32727	47253823	123861244	5358	8974											
CD2AP	23607	broad.mit.edu	37	6	47471062	47471062	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:47471062A>G	ENST00000359314.5	+	2	507	c.51A>G	c.(49-51)gaA>gaG	p.E17E		NM_012120.2	NP_036252.1	Q9Y5K6	CD2AP_HUMAN	CD2-associated protein	17	Interaction with ANLN and localization to the midbody.|SH3 1; truncated.				cell division|mitosis|protein complex assembly|signal transduction|substrate-dependent cell migration, cell extension	cytoplasm|filamentous actin|nucleolus|plasma membrane|ruffle	SH3 domain binding|structural constituent of cytoskeleton			kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	20			Lung(136;0.105)|LUSC - Lung squamous cell carcinoma(51;0.138)			ATGATGATGAATTAACTATTC	0.373													7	80					0	0	1	0	0	G	47471062	A	G	47471062	2	3	81	1	0	0	0	0	0	0	0	1	3016	98	4	3		3	CD2AP	6	47471062	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	217239	47471062	123644005	5359	8975											
CD2AP	23607	broad.mit.edu	37	6	47580272	47580272	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:47580272G>T	ENST00000359314.5	+	17	2334	c.1878G>T	c.(1876-1878)gaG>gaT	p.E626D		NM_012120.2	NP_036252.1	Q9Y5K6	CD2AP_HUMAN	CD2-associated protein	626					cell division|mitosis|protein complex assembly|signal transduction|substrate-dependent cell migration, cell extension	cytoplasm|filamentous actin|nucleolus|plasma membrane|ruffle	SH3 domain binding|structural constituent of cytoskeleton			kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	20			Lung(136;0.105)|LUSC - Lung squamous cell carcinoma(51;0.138)			GTAATCTAGAGGTAATTAATT	0.348													10	12					1.08611e-07	1.27405e-07	1	1	0	T	47580272	G	T	47580272	5	4	81	1	0	0	0	0	0	0	1	0	3016	1014	35	4	1944	4	CD2AP	6	47580272	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	109210	47580272	123534795	5360	8976											
GPR111	222611	broad.mit.edu	37	6	47646785	47646785	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:47646785G>A	ENST00000398742.2	+	3	231	c.182G>A	c.(181-183)gGa>gAa	p.G61E	GPR111_ENST00000507065.1_Missense_Mutation_p.G61E|GPR111_ENST00000296862.1_Missense_Mutation_p.G129E			Q8IZF7	GP111_HUMAN	G protein-coupled receptor 111	129					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(15)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						GACACTCAGGGAAATATGGGG	0.458													4	41					0	0	1	0	0	A	47646785	G	A	47646785	3	1	81	1	0	0	0	0	1	0	0	0	6668	1174	41	2	192	2	GPR111	6	47646785	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	66513	47646785	123468282	5361	8977											
MUT	4594	broad.mit.edu	37	6	49412430	49412430	+	Missense_Mutation	SNP	C	C	T	rs139765234		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:49412430C>T	ENST00000274813.3	-	9	1725	c.1598G>A	c.(1597-1599)tGt>tAt	p.C533Y		NM_000255.3	NP_000246.2	P22033	MUTA_HUMAN	methylmalonyl CoA mutase	533					fatty acid beta-oxidation	mitochondrial matrix	cobalamin binding|metal ion binding|methylmalonyl-CoA mutase activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	30	Lung NSC(77;0.0376)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TGCAGCAAGACAACGTTCAGC	0.438													64	87					0	0	1	0	0	T	49412430	C	T	49412430	3	4	81	1	0	0	0	0	1	0	0	0	10039	478	17	2	674	2	MUT	6	49412430	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1765645	49412430	121702637	5362	8978											
CENPQ	55166	broad.mit.edu	37	6	49448778	49448778	+	Silent	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:49448778T>A	ENST00000335783.3	+	6	556	c.462T>A	c.(460-462)ggT>ggA	p.G154G		NM_018132.3	NP_060602.2	Q7L2Z9	CENPQ_HUMAN	centromere protein Q	154					CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	chromosome, centromeric region|cytosol|nucleoplasm				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(4)|ovary(2)|prostate(1)	11	Lung NSC(77;0.0128)					ATGAAGAAGGTCTGGCATTAC	0.358													6	57					0	0	1	0	0	A	49448778	T	A	49448778	2	1	81	1	0	0	0	0	0	0	0	1	3263	1654	58	5		5	CENPQ	6	49448778	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	36348	49448778	121666289	5363	8979											
CENPQ	55166	broad.mit.edu	37	6	49456375	49456375	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:49456375C>A	ENST00000335783.3	+	8	747	c.653C>A	c.(652-654)aCt>aAt	p.T218N		NM_018132.3	NP_060602.2	Q7L2Z9	CENPQ_HUMAN	centromere protein Q	218					CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	chromosome, centromeric region|cytosol|nucleoplasm				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(4)|ovary(2)|prostate(1)	11	Lung NSC(77;0.0128)					TCTCAGAAAACTCTCAAAGCA	0.358													23	41					1.9806e-07	2.31852e-07	1	1	0	A	49456375	C	A	49456375	3	1	81	1	0	0	0	0	1	0	0	0	3263	565	20	4	679	4	CENPQ	6	49456375	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	7597	49456375	121658692	5364	8980											
RHAG	6005	broad.mit.edu	37	6	49585861	49585861	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:49585861G>A	ENST00000371175.4	-	3	438	c.412C>T	c.(412-414)Ccc>Tcc	p.P138S	RHAG_ENST00000229810.7_Missense_Mutation_p.P138S	NM_000324.2	NP_000315.2	Q02094	RHAG_HUMAN	Rh-associated glycoprotein	138					carbon dioxide transport|cellular ion homeostasis	integral to plasma membrane	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding			NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	39	Lung NSC(77;0.0255)					ATTTGGGTGGGGCTCGTTTTT	0.368													11	29					0	0	1	0	0	A	49585861	G	A	49585861	3	1	81	1	0	0	0	0	1	0	0	0	13365	1232	43	2	849	2	RHAG	6	49585861	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	129486	49585861	121529206	5365	8981											
CRISP1	167	broad.mit.edu	37	6	49819840	49819840	+	Missense_Mutation	SNP	C	C	A	rs138699394	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:49819840C>A	ENST00000335847.4	-	3	170	c.69G>T	c.(67-69)aaG>aaT	p.K23N	CRISP1_ENST00000536021.1_Missense_Mutation_p.K23N|CRISP1_ENST00000329411.5_Missense_Mutation_p.K23N|CRISP1_ENST00000507853.1_Missense_Mutation_p.K23N|CRISP1_ENST00000505118.1_Missense_Mutation_p.K23N|CRISP1_ENST00000355791.2_Missense_Mutation_p.K23N	NM_001131.2	NP_001122.2	P54107	CRIS1_HUMAN	cysteine-rich secretory protein 1	23					fusion of sperm to egg plasma membrane	extracellular space				endometrium(1)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|upper_aerodigestive_tract(1)	27	Lung NSC(77;0.0358)					TAGCTGATTTCTTCTGTTACC	0.333													25	52					2.79863e-10	3.42042e-10	1	1	0	A	49819840	C	A	49819840	3	1	81	1	0	0	0	0	1	0	0	0	3902	912	32	4	704	4	CRISP1	6	49819840	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	233979	49819840	121295227	5366	8982											
TFAP2D	83741	broad.mit.edu	37	6	50683315	50683315	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:50683315G>T	ENST00000008391.3	+	2	754	c.526G>T	c.(526-528)Gac>Tac	p.D176Y		NM_172238.3	NP_758438.2	Q7Z6R9	AP2D_HUMAN	transcription factor AP-2 delta (activating enhancer binding protein 2 delta)	176							DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1)	60	Lung NSC(77;0.0334)					CGCGGGAGCAGACGACTTGCA	0.602													44	42					1.72184e-34	2.30426e-34	1	1	0	T	50683315	G	T	50683315	3	4	81	1	0	0	0	0	1	0	0	0	15850	942	33	4	532	4	TFAP2D	6	50683315	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	863475	50683315	120431752	5367	8983											
TFAP2D	83741	broad.mit.edu	37	6	50719023	50719023	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:50719023T>C	ENST00000008391.3	+	7	1353	c.1125T>C	c.(1123-1125)caT>caC	p.H375H		NM_172238.3	NP_758438.2	Q7Z6R9	AP2D_HUMAN	transcription factor AP-2 delta (activating enhancer binding protein 2 delta)	375	H-S-H (helix-span-helix), dimerization.						DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1)	60	Lung NSC(77;0.0334)					TCCAGAGACATTTAACACATT	0.403													5	44					0	0	1	0	0	C	50719023	T	C	50719023	2	2	81	1	0	0	0	0	0	0	0	1	15850	1490	52	3		3	TFAP2D	6	50719023	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	35708	50719023	120396044	5368	8984											
TFAP2B	7021	broad.mit.edu	37	6	50807964	50807964	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:50807964G>T	ENST00000263046.4	+	7	1229	c.1063G>T	c.(1063-1065)Gac>Tac	p.D355Y	TFAP2B_ENST00000393655.3_Missense_Mutation_p.D346Y			Q92481	AP2B_HUMAN	transcription factor AP-2 beta (activating enhancer binding protein 2 beta)	346					nervous system development|positive regulation of transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)	40	Lung NSC(77;0.156)					GCAGCACACAGACCCGAGTGA	0.527													25	53					7.92952e-12	9.86359e-12	1	1	0	T	50807964	G	T	50807964	3	4	81	1	0	0	0	0	1	0	0	0	15848	942	33	4	1058	4	TFAP2B	6	50807964	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	88941	50807964	120307103	5369	8985											
TFAP2B	7021	broad.mit.edu	37	6	50810927	50810927	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:50810927C>T	ENST00000263046.4	+	8	1398	c.1232C>T	c.(1231-1233)aCg>aTg	p.T411M	TFAP2B_ENST00000393655.3_Missense_Mutation_p.T402M			Q92481	AP2B_HUMAN	transcription factor AP-2 beta (activating enhancer binding protein 2 beta)	402				QLCKEFTDLLAQDRTPIGNSRPSPILEPGIQSCLTHFSLIT HGFGAPAICAALTALQNYLTEALKGMDKMFLNNTTTNRHTS GEGPGSKTGDKEEKHRK -> GNFVKNLRIYWRRTGHR (in Ref. 1; CAA71047).	nervous system development|positive regulation of transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)	40	Lung NSC(77;0.156)					AGCCTCATCACGCACGGCTTC	0.632													35	56					0	0	1	0	0	T	50810927	C	T	50810927	3	4	81	1	0	0	0	0	1	0	0	0	15848	536	19	1	1231	1	TFAP2B	6	50810927	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2963	50810927	120304140	5370	8986											
PKHD1	5314	broad.mit.edu	37	6	51484203	51484203	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:51484203C>T	ENST00000371117.3	-	67	12176	c.11901G>A	c.(11899-11901)gtG>gtA	p.V3967V	RP3-335N17.2_ENST00000454361.1_RNA|RP3-335N17.2_ENST00000589278.2_RNA	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	3967					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)					CAGGAGCAGGCACAGCAGCCT	0.567													34	45					0	0	1	0	0	T	51484203	C	T	51484203	2	4	81	1	0	0	0	0	0	0	0	1	12019	697	25	2		2	PKHD1	6	51484203	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	673276	51484203	119630864	5371	8987											
PKHD1	5314	broad.mit.edu	37	6	51524157	51524157	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:51524157C>T	ENST00000371117.3	-	61	11042	c.10767G>A	c.(10765-10767)caG>caA	p.Q3589Q		NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	3589					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	p.Q3589H(1)|p.Q3589_I3590>HV(1)		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)					TTTGGCCAATCTGTAAGAAGT	0.433													10	76					0	0	1	0	0	T	51524157	C	T	51524157	2	4	81	1	0	0	0	0	0	0	0	1	12019	912	32	2		2	PKHD1	6	51524157	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	39954	51524157	119590910	5372	8988											
PKHD1	5314	broad.mit.edu	37	6	51695675	51695675	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:51695675G>A	ENST00000371117.3	-	52	8561	c.8286C>T	c.(8284-8286)gaC>gaT	p.D2762D	PKHD1_ENST00000340994.4_Silent_p.D2762D	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	2762	G8 2.				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)					AAATGAGAACGTCATCCCCAG	0.453													33	37					0	0	1	0	0	A	51695675	G	A	51695675	2	1	81	1	0	0	0	0	0	0	0	1	12019	1136	40	1		1	PKHD1	6	51695675	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	171518	51695675	119419392	5373	8989											
PKHD1	5314	broad.mit.edu	37	6	51748014	51748014	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:51748014A>G	ENST00000371117.3	-	46	7502	c.7227T>C	c.(7225-7227)agT>agC	p.S2409S	PKHD1_ENST00000340994.4_Silent_p.S2409S	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	2409					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)					GAAGATTGCTACTTCTAAAAA	0.343													6	59					0	0	1	0	0	G	51748014	A	G	51748014	2	3	81	1	0	0	0	0	0	0	0	1	12019	388	14	3		3	PKHD1	6	51748014	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	52339	51748014	119367053	5374	8990											
MCM3	4172	broad.mit.edu	37	6	52137116	52137116	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:52137116T>C	ENST00000596288.1	-	12	1972	c.1945A>G	c.(1945-1947)Agc>Ggc	p.S649G	MCM3_ENST00000229854.7_Missense_Mutation_p.S604G|MCM3_ENST00000419835.2_Missense_Mutation_p.S558G	NM_002388.4	NP_002379.3	P25205	MCM3_HUMAN	minichromosome maintenance complex component 3	604					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	alpha DNA polymerase:primase complex|centrosome|MCM complex|perinuclear region of cytoplasm	ATP binding|DNA binding|helicase activity|protein binding			endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	20	Lung NSC(77;0.0931)					GTGTCTGAGCTCATGCTATCC	0.567													10	64					0	0	1	0	0	C	52137116	T	C	52137116	3	2	81	1	0	0	0	0	1	0	0	0	9437	1551	54	3	640	3	MCM3	6	52137116	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	389102	52137116	118977951	5375	8991											
EFHC1	114327	broad.mit.edu	37	6	52334250	52334250	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:52334250G>A	ENST00000371068.5	+	7	1360	c.1257G>A	c.(1255-1257)gtG>gtA	p.V419V	EFHC1_ENST00000433625.2_Silent_p.V328V|EFHC1_ENST00000538167.1_Silent_p.V400V	NM_018100.3	NP_060570.2	Q5JVL4	EFHC1_HUMAN	EF-hand domain (C-terminal) containing 1	419	DM10 3.					axoneme|neuronal cell body	calcium ion binding|protein C-terminus binding			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	27	Lung NSC(77;0.109)					ATAACAAGGTGCTTCGTTATT	0.343													10	111					0	0	1	0	0	A	52334250	G	A	52334250	2	1	81	1	0	0	0	0	0	0	0	1	4972	1306	46	2		2	EFHC1	6	52334250	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	197134	52334250	118780817	5376	8992											
GSTA1	2938	broad.mit.edu	37	6	52657702	52657702	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:52657702G>A	ENST00000334575.5	-	6	653	c.498C>T	c.(496-498)taC>taT	p.Y166Y	GSTA1_ENST00000493331.1_5'UTR	NM_145740.3	NP_665683.1	P08263	GSTA1_HUMAN	glutathione S-transferase alpha 1	166	GST C-terminal.				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity			large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	12	Lung NSC(77;0.118)				Amsacrine(DB00276)|Busulfan(DB01008)|Glutathione(DB00143)	GCTCCTCGACGTAGTAGAGAA	0.527													44	70					0	0	1	0	0	A	52657702	G	A	52657702	2	1	81	1	0	0	0	0	0	0	0	1	6871	1140	40	1		1	GSTA1	6	52657702	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	323452	52657702	118457365	5377	8993											
GSTA5	221357	broad.mit.edu	37	6	52696717	52696717	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:52696717G>A	ENST00000370989.2	-	6	627	c.598C>T	c.(598-600)Cct>Tct	p.P200S	GSTA5_ENST00000284562.2_Missense_Mutation_p.P200S|GSTA5_ENST00000475052.1_5'UTR			Q7RTV2	GSTA5_HUMAN	glutathione S-transferase alpha 5		GST C-terminal.				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity			endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Lung NSC(77;0.0912)				Glutathione(DB00143)	TGGCTGCCAGGCTGCAGAAAC	0.498													39	55					0	0	1	0	0	A	52696717	G	A	52696717	3	1	81	1	0	0	0	0	1	0	0	0	6875	1203	42	2	74	2	GSTA5	6	52696717	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	39015	52696717	118418350	5378	8994											
GSTA5	221357	broad.mit.edu	37	6	52698993	52698993	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:52698993C>A	ENST00000370989.2	-	4	389	c.360G>T	c.(358-360)aaG>aaT	p.K120N	GSTA5_ENST00000284562.2_Missense_Mutation_p.K120N|GSTA5_ENST00000475052.1_5'UTR			Q7RTV2	GSTA5_HUMAN	glutathione S-transferase alpha 5		GST C-terminal.				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity			endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Lung NSC(77;0.0912)				Glutathione(DB00143)	CCAAGGCAGTCTTGGCATCTC	0.383													20	229					3.8784e-16	4.9676e-16	1	1	0	A	52698993	C	A	52698993	3	1	81	1	0	0	0	0	1	0	0	0	6875	912	32	4	320	4	GSTA5	6	52698993	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2276	52698993	118416074	5379	8995											
GSTA5	221357	broad.mit.edu	37	6	52699064	52699064	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:52699064C>T	ENST00000370989.2	-	4	318	c.289G>A	c.(289-291)Gaa>Aaa	p.E97K	GSTA5_ENST00000284562.2_Missense_Mutation_p.E97K|GSTA5_ENST00000475052.1_5'UTR			Q7RTV2	GSTA5_HUMAN	glutathione S-transferase alpha 5		GST C-terminal.				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity			endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Lung NSC(77;0.0912)				Glutathione(DB00143)	ACTATACCTTCTGTGTACATA	0.348													49	68					0	0	1	0	0	T	52699064	C	T	52699064	3	4	81	1	0	0	0	0	1	0	0	0	6875	922	32	2	391	2	GSTA5	6	52699064	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	71	52699064	118416003	5380	8996											
GSTA4	2941	broad.mit.edu	37	6	52849275	52849275	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:52849275G>A	ENST00000541324.1	-	3	387	c.122C>T	c.(121-123)cCt>cTt	p.P41L	GSTA4_ENST00000370960.1_Missense_Mutation_p.P41L|GSTA4_ENST00000370959.1_Missense_Mutation_p.P134L|GSTA4_ENST00000486559.1_5'UTR			O15217	GSTA4_HUMAN	glutathione S-transferase alpha 4	134	GST N-terminal.				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity|protein homodimerization activity			endometrium(1)|lung(3)|skin(2)|urinary_tract(1)	7	Lung NSC(77;0.103)				Glutathione(DB00143)	TTCAAACACAGGAAAGTATCT	0.433													29	58					0	0	1	0	0	A	52849275	G	A	52849275	3	1	81	1	0	0	0	0	1	0	0	0	6874	1000	35	2	279	2	GSTA4	6	52849275	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	150211	52849275	118265792	5381	8997											
GCM1	8521	broad.mit.edu	37	6	52993010	52993010	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:52993010C>T	ENST00000259803.7	-	6	1516	c.1305G>A	c.(1303-1305)ttG>ttA	p.L435L		NM_003643.3	NP_003634.2	Q9NP62	GCM1_HUMAN	glial cells missing homolog 1 (Drosophila)	435						transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|skin(1)	24	Lung NSC(77;0.0755)					TGGGTCATCTCAAAGGACACA	0.418													83	123					0	0	1	0	0	T	52993010	C	T	52993010	2	4	81	1	0	0	0	0	0	0	0	1	6337	825	29	2		2	GCM1	6	52993010	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	143735	52993010	118122057	5382	8998											
GCM1	8521	broad.mit.edu	37	6	52993556	52993556	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:52993556C>T	ENST00000259803.7	-	6	970	c.759G>A	c.(757-759)caG>caA	p.Q253Q		NM_003643.3	NP_003634.2	Q9NP62	GCM1_HUMAN	glial cells missing homolog 1 (Drosophila)	253						transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|skin(1)	24	Lung NSC(77;0.0755)					CAGTGGAAGTCTGGTCAGTCA	0.473													25	32					0	0	1	0	0	T	52993556	C	T	52993556	2	4	81	1	0	0	0	0	0	0	0	1	6337	912	32	2		2	GCM1	6	52993556	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	546	52993556	118121511	5383	8999											
ELOVL5	60481	broad.mit.edu	37	6	53139925	53139925	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:53139925G>T	ENST00000542638.1	-	5	906	c.459C>A	c.(457-459)atC>atA	p.I153I	ELOVL5_ENST00000370918.4_Silent_p.I143I|ELOVL5_ENST00000304434.6_Silent_p.I153I|ELOVL5_ENST00000541407.1_Silent_p.I180I			Q9NYP7	ELOV5_HUMAN	ELOVL fatty acid elongase 5	153					fatty acid elongation, monounsaturated fatty acid|fatty acid elongation, polyunsaturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	fatty acid elongase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7	Lung NSC(77;0.116)					CAAACCACCAGATGTTCAGCA	0.507													8	35					0.00307968	0.00324365	1	1	0	T	53139925	G	T	53139925	2	4	81	1	0	0	0	0	0	0	0	1	5105	932	33	4		4	ELOVL5	6	53139925	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	146369	53139925	117975142	5384	9000											
GCLC	2729	broad.mit.edu	37	6	53370255	53370255	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:53370255A>G	ENST00000229416.6	-	12	1813	c.1330T>C	c.(1330-1332)Ttt>Ctt	p.F444L	RP1-27K12.4_ENST00000508884.1_RNA	NM_001197115.1|NM_001498.3	NP_001184044.1|NP_001489.1	P48506	GSH1_HUMAN	glutamate-cysteine ligase, catalytic subunit	444					anti-apoptosis|cell redox homeostasis|cysteine metabolic process|glutamate metabolic process|glutathione biosynthetic process|negative regulation of transcription, DNA-dependent|regulation of blood vessel size|response to heat|response to hormone stimulus|response to oxidative stress|xenobiotic metabolic process	cytosol	ADP binding|ATP binding|coenzyme binding|glutamate binding|glutamate-cysteine ligase activity|magnesium ion binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22	Lung NSC(77;0.0137)				L-Cysteine(DB00151)|L-Glutamic Acid(DB00142)	AGTACCACAAACACCACATAG	0.418													4	48					0	0	1	0	0	G	53370255	A	G	53370255	3	3	81	1	0	0	0	0	1	0	0	0	6335	43	2	3	603	3	GCLC	6	53370255	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	230330	53370255	117744812	5385	9001											
GCLC	2729	broad.mit.edu	37	6	53370685	53370685	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:53370685C>T	ENST00000229416.6	-	11	1689	c.1206G>A	c.(1204-1206)caG>caA	p.Q402Q	RP1-27K12.4_ENST00000508884.1_RNA	NM_001197115.1|NM_001498.3	NP_001184044.1|NP_001489.1	P48506	GSH1_HUMAN	glutamate-cysteine ligase, catalytic subunit	402					anti-apoptosis|cell redox homeostasis|cysteine metabolic process|glutamate metabolic process|glutathione biosynthetic process|negative regulation of transcription, DNA-dependent|regulation of blood vessel size|response to heat|response to hormone stimulus|response to oxidative stress|xenobiotic metabolic process	cytosol	ADP binding|ATP binding|coenzyme binding|glutamate binding|glutamate-cysteine ligase activity|magnesium ion binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22	Lung NSC(77;0.0137)				L-Cysteine(DB00151)|L-Glutamic Acid(DB00142)	AATTTGTGGACTGAATATTCT	0.393													6	85					0	0	1	0	0	T	53370685	C	T	53370685	2	4	81	1	0	0	0	0	0	0	0	1	6335	564	20	2		2	GCLC	6	53370685	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	430	53370685	117744382	5386	9002											
LRRC1	55227	broad.mit.edu	37	6	53762158	53762158	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:53762158G>A	ENST00000370888.1	+	7	919		c.e7+1			NM_018214.4	NP_060684.4	Q9BTT6	LRRC1_HUMAN	leucine rich repeat containing 1							cytoplasm|membrane				cervix(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20	Lung NSC(77;0.0147)			BRCA - Breast invasive adenocarcinoma(397;0.0745)		ATTACCTCAGGTAAGTGGTAA	0.368													14	6					0	0	1	0	0	A	53762158	G	A	53762158	5	1	81	1	0	0	0	0	0	0	1	0	9011	1275	44	2	669	2	LRRC1	6	53762158	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	391473	53762158	117352909	5387	9003											
TINAG	27283	broad.mit.edu	37	6	54173380	54173380	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:54173380C>A	ENST00000259782.4	+	1	128	c.32C>A	c.(31-33)tCt>tAt	p.S11Y	TINAG_ENST00000486436.1_Intron|TINAG_ENST00000370864.3_5'UTR|TINAG_ENST00000370869.3_Intron	NM_014464.3	NP_055279.3	Q9UJW2	TINAG_HUMAN	tubulointerstitial nephritis antigen	11					cell adhesion|immune response|Malpighian tubule morphogenesis|proteolysis	basement membrane	cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34	Lung NSC(77;0.0518)		LUSC - Lung squamous cell carcinoma(124;0.246)			TTAATCTTCTCTTATCTTACT	0.413													5	68					0.014758	0.0152304	1	1	0	A	54173380	C	A	54173380	3	1	81	1	0	0	0	0	1	0	0	0	15981	913	32	4	34	4	TINAG	6	54173380	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	411222	54173380	116941687	5388	9004											
TINAG	27283	broad.mit.edu	37	6	54208056	54208056	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:54208056G>A	ENST00000259782.4	+	5	753	c.657G>A	c.(655-657)gaG>gaA	p.E219E		NM_014464.3	NP_055279.3	Q9UJW2	TINAG_HUMAN	tubulointerstitial nephritis antigen	219					cell adhesion|immune response|Malpighian tubule morphogenesis|proteolysis	basement membrane	cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34	Lung NSC(77;0.0518)		LUSC - Lung squamous cell carcinoma(124;0.246)			ATCTTCCAGAGTTTTTTGTTG	0.393													23	42					0	0	1	0	0	A	54208056	G	A	54208056	2	1	81	1	0	0	0	0	0	0	0	1	15981	1020	36	2		2	TINAG	6	54208056	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	34676	54208056	116907011	5389	9005											
TINAG	27283	broad.mit.edu	37	6	54208113	54208113	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:54208113A>C	ENST00000259782.4	+	5	810	c.714A>C	c.(712-714)aaA>aaC	p.K238N		NM_014464.3	NP_055279.3	Q9UJW2	TINAG_HUMAN	tubulointerstitial nephritis antigen	238					cell adhesion|immune response|Malpighian tubule morphogenesis|proteolysis	basement membrane	cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34	Lung NSC(77;0.0518)		LUSC - Lung squamous cell carcinoma(124;0.246)			TGGATCAAAAAAATTGTGCTG	0.388													26	43					0	0	1	0	0	C	54208113	A	C	54208113	3	2	81	1	0	0	0	0	1	0	0	0	15981	11	1	5	732	5	TINAG	6	54208113	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	57	54208113	116906954	5390	9006											
TINAG	27283	broad.mit.edu	37	6	54214695	54214695	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:54214695G>A	ENST00000259782.4	+	7	1176		c.e7+1			NM_014464.3	NP_055279.3	Q9UJW2	TINAG_HUMAN	tubulointerstitial nephritis antigen						cell adhesion|immune response|Malpighian tubule morphogenesis|proteolysis	basement membrane	cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34	Lung NSC(77;0.0518)		LUSC - Lung squamous cell carcinoma(124;0.246)			CTCTTCCAACGTAAGTATAAA	0.353													14	23					0	0	1	0	0	A	54214695	G	A	54214695	5	1	81	1	0	0	0	0	0	0	1	0	15981	1159	40	1	1107	1	TINAG	6	54214695	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	6582	54214695	116900372	5391	9007											
FAM83B	222584	broad.mit.edu	37	6	54806043	54806043	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:54806043G>T	ENST00000306858.7	+	5	2390	c.2274G>T	c.(2272-2274)aaG>aaT	p.K758N		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	758										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					TTGCTTCAAAGAAGGAAGTTA	0.378													27	58					6.32553e-13	7.94418e-13	1	1	0	T	54806043	G	T	54806043	3	4	81	1	0	0	0	0	1	0	0	0	5666	933	33	4	2288	4	FAM83B	6	54806043	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	591348	54806043	116309024	5392	9008											
HCRTR2	3062	broad.mit.edu	37	6	55113475	55113475	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:55113475G>T	ENST00000370862.3	+	2	598	c.262G>T	c.(262-264)Gta>Tta	p.V88L		NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2	88					feeding behavior	integral to plasma membrane	neuropeptide receptor activity			breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			CATGAGGACGGTAACCAACTA	0.448													10	121					2.17888e-05	2.43576e-05	1	1	0	T	55113475	G	T	55113475	3	4	81	1	0	0	0	0	1	0	0	0	7043	1261	44	5	268	5	HCRTR2	6	55113475	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	307432	55113475	116001592	5393	9009											
GFRAL	389400	broad.mit.edu	37	6	55196545	55196545	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:55196545T>C	ENST00000340465.2	+	2	141	c.55T>C	c.(55-57)Tcc>Ccc	p.S19P		NM_207410.2	NP_997293.2	Q6UXV0	GFRAL_HUMAN	GDNF family receptor alpha like	19						integral to membrane	receptor activity			NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	48	Lung NSC(77;0.0875)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			TGAATACACTTCCCAAACCAA	0.343													6	51					0	0	1	0	0	C	55196545	T	C	55196545	3	2	81	1	0	0	0	0	1	0	0	0	6393	1783	62	3	61	3	GFRAL	6	55196545	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	83070	55196545	115918522	5394	9010											
BMP5	653	broad.mit.edu	37	6	55625255	55625255	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:55625255C>A	ENST00000370830.3	-	5	1802	c.1104G>T	c.(1102-1104)caG>caT	p.Q368H	BMP5_ENST00000446683.2_Splice_Site_p.Q368H	NM_021073.2	NP_066551.1	P22003	BMP5_HUMAN	bone morphogenetic protein 5	368					cartilage development|cell differentiation|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	45	Lung NSC(77;0.0462)		LUSC - Lung squamous cell carcinoma(124;0.181)			AAATTCCTACCTGCCATCCCA	0.358													9	49					9.70103e-10	1.17698e-09	1	1	0	A	55625255	C	A	55625255	5	1	81	1	0	0	0	0	0	0	1	0	1462	695	24	4	272	4	BMP5	6	55625255	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	428710	55625255	115489812	5395	9011											
BMP5	653	broad.mit.edu	37	6	55684513	55684513	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:55684513C>T	ENST00000370830.3	-	2	1321	c.623G>A	c.(622-624)cGa>cAa	p.R208Q	BMP5_ENST00000446683.2_Missense_Mutation_p.R208Q	NM_021073.2	NP_066551.1	P22003	BMP5_HUMAN	bone morphogenetic protein 5	208					cartilage development|cell differentiation|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	45	Lung NSC(77;0.0462)		LUSC - Lung squamous cell carcinoma(124;0.181)			ATTTTCAAATCGGTTGTTGCT	0.338													12	28					0	0	1	0	0	T	55684513	C	T	55684513	3	4	81	1	0	0	0	0	1	0	0	0	1462	884	31	1	765	1	BMP5	6	55684513	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	59258	55684513	115430554	5396	9012											
BMP5	653	broad.mit.edu	37	6	55739531	55739531	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:55739531T>C	ENST00000370830.3	-	1	831	c.133A>G	c.(133-135)Aac>Gac	p.N45D	BMP5_ENST00000446683.2_Missense_Mutation_p.N45D	NM_021073.2	NP_066551.1	P22003	BMP5_HUMAN	bone morphogenetic protein 5	45					cartilage development|cell differentiation|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	45	Lung NSC(77;0.0462)		LUSC - Lung squamous cell carcinoma(124;0.181)			CTTTCGTGGTTCCGTAGTCTT	0.463													54	81					0	0	1	0	0	C	55739531	T	C	55739531	3	2	81	1	0	0	0	0	1	0	0	0	1462	1783	62	3	1259	3	BMP5	6	55739531	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	55018	55739531	115375536	5397	9013											
DST	667	broad.mit.edu	37	6	56362694	56362695	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:56362694_56362695insT	ENST00000370754.5	-	81	19959_19960	c.19960_19961insA	c.(19960-19962)acafs	p.T6654fs	DST_ENST00000370788.2_Frame_Shift_Ins_p.T4279fs|DST_ENST00000361203.3_Frame_Shift_Ins_p.T6365fs|DST_ENST00000340834.4_5'UTR|DST_ENST00000244364.6_Frame_Shift_Ins_p.T4062fs|DST_ENST00000421834.2_Frame_Shift_Ins_p.T4388fs|DST_ENST00000312431.6_3'UTR|DST_ENST00000446842.2_Frame_Shift_Ins_p.T6150fs|DST_ENST00000370769.4_Frame_Shift_Ins_p.T6476fs			Q03001	DYST_HUMAN	dystonin	6474					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CCTTTGTTCTGTTTTTTCCAAA	0.391													14	35	---	---	---	---						T	56362695	-	T	56362694	7	5	81	1	0	1	1	0	0	0	0	0	4809	1377	48	0	3422	0	DST	6	56362694	Frame_Shift_Ins	INS	-	TCGA-DU-6392-01A-11D-1705-08	623163	56362694	114752373	5398	9014											
DST	667	broad.mit.edu	37	6	56374448	56374448	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:56374448G>T	ENST00000370754.5	-	74	18910	c.18911C>A	c.(18910-18912)tCt>tAt	p.S6304Y	DST_ENST00000370769.4_Missense_Mutation_p.S6126Y|DST_ENST00000312431.6_3'UTR|DST_ENST00000370788.2_Missense_Mutation_p.S3929Y|DST_ENST00000361203.3_Missense_Mutation_p.S6015Y|DST_ENST00000340834.4_5'UTR|DST_ENST00000244364.6_Missense_Mutation_p.S3712Y|DST_ENST00000421834.2_Missense_Mutation_p.S4038Y|DST_ENST00000446842.2_Missense_Mutation_p.S5800Y			Q03001	DYST_HUMAN	dystonin	6124					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			ACCTTTGGCAGATATGTCTTT	0.393													15	19					2.5808e-16	3.3126e-16	1	1	0	T	56374448	G	T	56374448	3	4	81	1	0	0	0	0	1	0	0	0	4809	942	33	4	4500	4	DST	6	56374448	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	11754	56374448	114740619	5399	9015											
DST	667	broad.mit.edu	37	6	56374499	56374499	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:56374499T>C	ENST00000370754.5	-	74	18859	c.18860A>G	c.(18859-18861)cAg>cGg	p.Q6287R	DST_ENST00000370769.4_Missense_Mutation_p.Q6109R|DST_ENST00000312431.6_3'UTR|DST_ENST00000370788.2_Missense_Mutation_p.Q3912R|DST_ENST00000361203.3_Missense_Mutation_p.Q5998R|DST_ENST00000340834.4_5'UTR|DST_ENST00000244364.6_Missense_Mutation_p.Q3695R|DST_ENST00000421834.2_Missense_Mutation_p.Q4021R|DST_ENST00000446842.2_Missense_Mutation_p.Q5783R			Q03001	DYST_HUMAN	dystonin	6107					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CTCTCCCCTCTGTTTAAGAGT	0.388													15	30					0	0	1	0	0	C	56374499	T	C	56374499	3	2	81	1	0	0	0	0	1	0	0	0	4809	1580	55	3	4551	3	DST	6	56374499	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	51	56374499	114740568	5400	9016											
DST	667	broad.mit.edu	37	6	56382357	56382357	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:56382357G>T	ENST00000370754.5	-	70	18097	c.18098C>A	c.(18097-18099)tCt>tAt	p.S6033Y	DST_ENST00000370769.4_Missense_Mutation_p.S5855Y|DST_ENST00000312431.6_3'UTR|DST_ENST00000370788.2_Missense_Mutation_p.S3658Y|DST_ENST00000361203.3_Missense_Mutation_p.S5744Y|DST_ENST00000340834.4_5'UTR|DST_ENST00000244364.6_Missense_Mutation_p.S3441Y|DST_ENST00000421834.2_Missense_Mutation_p.S3767Y|DST_ENST00000446842.2_Missense_Mutation_p.S5529Y			Q03001	DYST_HUMAN	dystonin	5853					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			GTCACCCAGAGACATCAATTT	0.388													9	17					1.76689e-08	2.10148e-08	1	1	0	T	56382357	G	T	56382357	3	4	81	1	0	0	0	0	1	0	0	0	4809	942	33	4	5329	4	DST	6	56382357	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	7858	56382357	114732710	5401	9017											
DST	667	broad.mit.edu	37	6	56391170	56391170	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:56391170G>A	ENST00000370754.5	-	69	18024	c.18025C>T	c.(18025-18027)Cga>Tga	p.R6009*	DST_ENST00000370769.4_Nonsense_Mutation_p.R5831*|DST_ENST00000312431.6_3'UTR|DST_ENST00000370788.2_Nonsense_Mutation_p.R3634*|DST_ENST00000361203.3_Nonsense_Mutation_p.R5720*|DST_ENST00000340834.4_5'UTR|DST_ENST00000244364.6_Nonsense_Mutation_p.R3417*|DST_ENST00000421834.2_Nonsense_Mutation_p.R3743*|DST_ENST00000446842.2_Nonsense_Mutation_p.R5505*			Q03001	DYST_HUMAN	dystonin	5829					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TGCTGTGATCGCAGAATGGCT	0.443													21	43					0	0	1	0	0	A	56391170	G	A	56391170	4	1	81	1	0	0	0	0	0	1	0	0	4809	1095	38	1	5406	1	DST	6	56391170	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	8813	56391170	114723897	5402	9018											
DST	667	broad.mit.edu	37	6	56394563	56394563	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:56394563C>A	ENST00000370754.5	-	66	17184	c.17185G>T	c.(17185-17187)Gat>Tat	p.D5729Y	DST_ENST00000370769.4_Missense_Mutation_p.D5551Y|DST_ENST00000312431.6_3'UTR|DST_ENST00000370788.2_Intron|DST_ENST00000361203.3_Intron|DST_ENST00000340834.4_5'UTR|DST_ENST00000244364.6_Missense_Mutation_p.D3137Y|DST_ENST00000421834.2_Missense_Mutation_p.D3463Y|DST_ENST00000446842.2_Missense_Mutation_p.D5225Y			Q03001	DYST_HUMAN	dystonin	5549					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			ATGATGTCATCTTCTAAGGCC	0.328													10	10					2.17888e-05	2.43576e-05	1	1	0	A	56394563	C	A	56394563	3	1	81	1	0	0	0	0	1	0	0	0	4809	913	32	4	6258	4	DST	6	56394563	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3393	56394563	114720504	5403	9019											
DST	667	broad.mit.edu	37	6	56397210	56397210	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:56397210C>T	ENST00000370754.5	-	64	16946	c.16947G>A	c.(16945-16947)gtG>gtA	p.V5649V	DST_ENST00000370769.4_Silent_p.V5471V|DST_ENST00000312431.6_3'UTR|DST_ENST00000370788.2_Silent_p.V3383V|DST_ENST00000361203.3_Silent_p.V5469V|DST_ENST00000340834.4_5'UTR|DST_ENST00000244364.6_Silent_p.V3057V|DST_ENST00000421834.2_Silent_p.V3383V|DST_ENST00000446842.2_Silent_p.V5145V			Q03001	DYST_HUMAN	dystonin	5469					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TCAAAATCTTCACTTTATCTG	0.403													15	18					0	0	1	0	0	T	56397210	C	T	56397210	2	4	81	1	0	0	0	0	0	0	0	1	4809	813	29	2		2	DST	6	56397210	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2647	56397210	114717857	5404	9020											
DST	667	broad.mit.edu	37	6	56400023	56400023	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:56400023T>A	ENST00000370754.5	-	63	16744	c.16745A>T	c.(16744-16746)gAg>gTg	p.E5582V	DST_ENST00000370769.4_Missense_Mutation_p.E5404V|DST_ENST00000312431.6_3'UTR|DST_ENST00000370788.2_Missense_Mutation_p.E3316V|DST_ENST00000361203.3_Missense_Mutation_p.E5402V|DST_ENST00000340834.4_5'UTR|DST_ENST00000244364.6_Missense_Mutation_p.E2990V|DST_ENST00000421834.2_Missense_Mutation_p.E3316V|DST_ENST00000446842.2_Missense_Mutation_p.E5078V			Q03001	DYST_HUMAN	dystonin	5402					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			GAGCAGGGACTCCAGGGCATC	0.552													6	78					0	0	1	0	0	A	56400023	T	A	56400023	3	1	81	1	0	0	0	0	1	0	0	0	4809	1551	54	5	6710	5	DST	6	56400023	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	2813	56400023	114715044	5405	9021											
DST	667	broad.mit.edu	37	6	56401697	56401697	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:56401697C>T	ENST00000370754.5	-	62	16556	c.16557G>A	c.(16555-16557)caG>caA	p.Q5519Q	DST_ENST00000370769.4_Silent_p.Q5341Q|DST_ENST00000312431.6_3'UTR|DST_ENST00000370788.2_Silent_p.Q3253Q|DST_ENST00000361203.3_Silent_p.Q5339Q|DST_ENST00000340834.4_5'UTR|DST_ENST00000244364.6_Silent_p.Q2927Q|DST_ENST00000421834.2_Silent_p.Q3253Q|DST_ENST00000446842.2_Silent_p.Q5015Q			Q03001	DYST_HUMAN	dystonin	5339					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TTACATCTTGCTGTTTACCTT	0.408													30	38					0	0	1	0	0	T	56401697	C	T	56401697	2	4	81	1	0	0	0	0	0	0	0	1	4809	796	28	2		2	DST	6	56401697	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1674	56401697	114713370	5406	9022											
DST	667	broad.mit.edu	37	6	56417281	56417281	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:56417281C>T	ENST00000370754.5	-	61	16215	c.16216G>A	c.(16216-16218)Gca>Aca	p.A5406T	DST_ENST00000370769.4_Missense_Mutation_p.A5228T|DST_ENST00000312431.6_3'UTR|DST_ENST00000370788.2_Missense_Mutation_p.A3140T|DST_ENST00000361203.3_Missense_Mutation_p.A5226T|DST_ENST00000244364.6_Missense_Mutation_p.A2814T|DST_ENST00000421834.2_Missense_Mutation_p.A3140T|DST_ENST00000446842.2_Missense_Mutation_p.A4902T			Q03001	DYST_HUMAN	dystonin	5226					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TCATTGCTTGCCATGAGGGCT	0.433													20	26					0	0	1	0	0	T	56417281	C	T	56417281	3	4	81	1	0	0	0	0	1	0	0	0	4809	739	26	2	7247	2	DST	6	56417281	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	15584	56417281	114697786	5407	9023											
DST	667	broad.mit.edu	37	6	56468010	56468010	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:56468010G>T	ENST00000370754.5	-	41	11050	c.11051C>A	c.(11050-11052)tCt>tAt	p.S3684Y	DST_ENST00000370769.4_Missense_Mutation_p.S3506Y|DST_ENST00000312431.6_Missense_Mutation_p.S3506Y|DST_ENST00000370788.2_Intron|DST_ENST00000361203.3_Missense_Mutation_p.S3506Y|DST_ENST00000244364.6_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000446842.2_Missense_Mutation_p.S3180Y			Q03001	DYST_HUMAN	dystonin	3506					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TACCATTTCAGAGTCGATCGC	0.363													5	15					0.014758	0.0152304	1	1	0	T	56468010	G	T	56468010	3	4	81	1	0	0	0	0	1	0	0	0	4809	957	33	4		4	DST	6	56468010	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	50729	56468010	114647057	5408	9024											
DST	667	broad.mit.edu	37	6	56468377	56468377	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:56468377T>G	ENST00000370754.5	-	40	10826	c.10827A>C	c.(10825-10827)caA>caC	p.Q3609H	DST_ENST00000370769.4_Missense_Mutation_p.Q3431H|DST_ENST00000312431.6_Missense_Mutation_p.Q3431H|DST_ENST00000370788.2_Intron|DST_ENST00000361203.3_Missense_Mutation_p.Q3431H|DST_ENST00000244364.6_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000446842.2_Missense_Mutation_p.Q3105H			Q03001	DYST_HUMAN	dystonin	3431					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			ACTGTCTAAGTTGATTCTTCA	0.388													24	182					0	0	1	0	0	G	56468377	T	G	56468377	3	3	81	1	0	0	0	0	1	0	0	0	4809	1740	60	5		5	DST	6	56468377	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	367	56468377	114646690	5409	9025											
DST	667	broad.mit.edu	37	6	56492955	56492955	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:56492955G>A	ENST00000370754.5	-	32	4380	c.4381C>T	c.(4381-4383)Cgg>Tgg	p.R1461W	DST_ENST00000370769.4_Missense_Mutation_p.R1283W|DST_ENST00000312431.6_Missense_Mutation_p.R1283W|DST_ENST00000370788.2_Missense_Mutation_p.R1283W|DST_ENST00000518935.1_Missense_Mutation_p.R957W|DST_ENST00000361203.3_Missense_Mutation_p.R1283W|DST_ENST00000370765.6_Missense_Mutation_p.R957W|DST_ENST00000244364.6_Missense_Mutation_p.R957W|DST_ENST00000421834.2_Missense_Mutation_p.R1283W|DST_ENST00000446842.2_Missense_Mutation_p.R957W			Q03001	DYST_HUMAN	dystonin	1283					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TCTAAGTCCCGTAACCTAAGA	0.438													10	31					0	0	1	0	0	A	56492955	G	A	56492955	3	1	81	1	0	0	0	0	1	0	0	0	4809	1144	40	1	17550	1	DST	6	56492955	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	24578	56492955	114622112	5410	9026											
DST	667	broad.mit.edu	37	6	56506847	56506847	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:56506847G>A	ENST00000370754.5	-	16	1825	c.1826C>T	c.(1825-1827)gCt>gTt	p.A609V	DST_ENST00000370769.4_Missense_Mutation_p.A431V|DST_ENST00000312431.6_Missense_Mutation_p.A431V|DST_ENST00000370788.2_Missense_Mutation_p.A431V|DST_ENST00000518935.1_Missense_Mutation_p.A105V|DST_ENST00000361203.3_Missense_Mutation_p.A431V|DST_ENST00000370765.6_Missense_Mutation_p.A105V|DST_ENST00000244364.6_Missense_Mutation_p.A105V|DST_ENST00000421834.2_Missense_Mutation_p.A431V|DST_ENST00000446842.2_Missense_Mutation_p.A105V			Q03001	DYST_HUMAN	dystonin	431					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TATATACCCAGCAATTTCTGC	0.338													19	33					0	0	1	0	0	A	56506847	G	A	56506847	3	1	81	1	0	0	0	0	1	0	0	0	4809	971	34	2	20169	2	DST	6	56506847	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	13892	56506847	114608220	5411	9027											
BEND6	221336	broad.mit.edu	37	6	56846620	56846620	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:56846620C>T	ENST00000370748.3	+	2	447	c.12C>T	c.(10-12)atC>atT	p.I4I	BEND6_ENST00000370746.3_Silent_p.I4I|BEND6_ENST00000370745.1_Silent_p.I4I|BEND6_ENST00000370750.2_Silent_p.I4I			Q5SZJ8	BEND6_HUMAN	BEN domain containing 6	4										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	17						TGCAGAAGATCGTGCAGACAG	0.368													5	90					0	0	1	0	0	T	56846620	C	T	56846620	2	4	81	1	0	0	0	0	0	0	0	1	1400	874	31	1		1	BEND6	6	56846620	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	339773	56846620	114268447	5412	9028											
KIAA1586	57691	broad.mit.edu	37	6	56918203	56918203	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:56918203G>T	ENST00000370733.4	+	4	1113	c.906G>T	c.(904-906)aaG>aaT	p.K302N	KIAA1586_ENST00000545356.1_Missense_Mutation_p.K275N	NM_020931.2	NP_065982.1	Q9HCI6	K1586_HUMAN	KIAA1586	302							nucleic acid binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|skin(1)	18	Lung NSC(77;0.0969)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			TGAAGATGAAGATATTTAAGA	0.313													19	28					7.41877e-09	8.87549e-09	1	1	0	T	56918203	G	T	56918203	3	4	81	1	0	0	0	0	1	0	0	0	8287	933	33	4	920	4	KIAA1586	6	56918203	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	71583	56918203	114196864	5413	9029											
LGSN	51557	broad.mit.edu	37	6	63990679	63990679	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:63990679G>T	ENST00000370657.4	-	4	810	c.777C>A	c.(775-777)tcC>tcA	p.S259S	LGSN_ENST00000370658.5_Intron			Q5TDP6	LGSN_HUMAN	lengsin, lens protein with glutamine synthetase domain	259					glutamine biosynthetic process		glutamate-ammonia ligase activity			NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34					L-Glutamic Acid(DB00142)	GCCTGGTAGAGGAGGAAAAAC	0.438													5	31					0.000602214	0.000646338	1	1	0	T	63990679	G	T	63990679	2	4	81	1	0	0	0	0	0	0	0	1	8799	987	35	4		4	LGSN	6	63990679	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	7072476	63990679	107124388	5414	9030											
PHF3	23469	broad.mit.edu	37	6	64395427	64395427	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:64395427G>A	ENST00000262043.3	+	4	2144	c.1804G>A	c.(1804-1806)Gct>Act	p.A602T	PHF3_ENST00000509330.1_Missense_Mutation_p.A602T|PHF3_ENST00000393387.1_Missense_Mutation_p.A602T			Q92576	PHF3_HUMAN	PHD finger protein 3	602					multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			TAAGTCACACGCTCATCCTGG	0.408													17	28					0	0	1	0	0	A	64395427	G	A	64395427	3	1	81	1	0	0	0	0	1	0	0	0	11884	1087	38	1	1814	1	PHF3	6	64395427	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	404748	64395427	106719640	5415	9031											
PHF3	23469	broad.mit.edu	37	6	64401711	64401711	+	Silent	SNP	C	C	T	rs137872439		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:64401711C>T	ENST00000262043.3	+	5	2614	c.2274C>T	c.(2272-2274)ggC>ggT	p.G758G	PHF3_ENST00000393387.1_Silent_p.G758G			Q92576	PHF3_HUMAN	PHD finger protein 3	758					multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding	p.G758G(2)		breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			AGCAGATGGGCGAGGAAGACA	0.413													57	96					0	0	1	0	0	T	64401711	C	T	64401711	2	4	81	1	0	0	0	0	0	0	0	1	11884	755	27	1		1	PHF3	6	64401711	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	6284	64401711	106713356	5416	9032											
EYS	346007	broad.mit.edu	37	6	66063498	66063498	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:66063498G>T	ENST00000503581.1	-	9	1849	c.1312C>A	c.(1312-1314)Cca>Aca	p.P438T	EYS_ENST00000370616.2_Missense_Mutation_p.P438T|EYS_ENST00000370621.3_Missense_Mutation_p.P438T|EYS_ENST00000342421.5_Missense_Mutation_p.P438T|EYS_ENST00000370618.3_Missense_Mutation_p.P438T|EYS_ENST00000393380.2_Missense_Mutation_p.P438T	NM_001142800.1	NP_001136272.1	Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	438					response to stimulus|visual perception	extracellular region	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						GTGCACCCTGGAATGCATACA	0.313													4	61					1.23904e-05	1.39156e-05	1	1	0	T	66063498	G	T	66063498	3	4	81	1	0	0	0	0	1	0	0	0	5360	1174	41	5	8224	5	EYS	6	66063498	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1661787	66063498	105051569	5417	9033											
BAI3	577	broad.mit.edu	37	6	70071116	70071116	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:70071116T>C	ENST00000370598.1	+	29	4772	c.3951T>C	c.(3949-3951)aaT>aaC	p.N1317N	BAI3_ENST00000546190.1_Silent_p.N281N|BAI3_ENST00000238918.8_Silent_p.N523N	NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1317					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				GTTCTGTAAATAACCAGCCTT	0.393													5	55					0	0	1	0	0	C	70071116	T	C	70071116	2	2	81	1	0	0	0	0	0	0	0	1	1298	1403	49	3		3	BAI3	6	70071116	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	4007618	70071116	101043951	5418	9034											
COL19A1	1310	broad.mit.edu	37	6	70840080	70840080	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:70840080G>T	ENST00000322773.4	+	18	1450	c.1348G>T	c.(1348-1350)Gat>Tat	p.D450Y	COL19A1_ENST00000393344.1_Missense_Mutation_p.D72Y	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	450	Triple-helical region 3 (COL3).				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						CTAGGGAAATGATGAACATGA	0.378													9	19					0.00136819	0.00145431	1	1	0	T	70840080	G	T	70840080	3	4	81	1	0	0	0	0	1	0	0	0	3699	1290	45	5	1414	5	COL19A1	6	70840080	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	768964	70840080	100274987	5419	9035											
COL9A1	1297	broad.mit.edu	37	6	70944298	70944298	+	Splice_Site	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:70944298T>C	ENST00000357250.6	-	35	2418		c.e35-2		COL9A1_ENST00000489611.1_Splice_Site|COL9A1_ENST00000320755.7_Splice_Site|RP1-149L1.1_ENST00000522264.1_RNA|COL9A1_ENST00000370499.4_Splice_Site	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1						axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						TGCTCTACCCTGGGACAGAAA	0.408													7	48					0	0	1	0	0	C	70944298	T	C	70944298	5	2	81	1	0	0	0	0	0	0	1	0	3730	1594	55	3	523	3	COL9A1	6	70944298	Splice_Site	SNP	T	TCGA-DU-6392-01A-11D-1705-08	104218	70944298	100170769	5420	9036											
COL9A1	1297	broad.mit.edu	37	6	70964198	70964198	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:70964198G>A	ENST00000357250.6	-	25	1858	c.1700C>T	c.(1699-1701)gCa>gTa	p.A567V	COL9A1_ENST00000489611.1_5'UTR|COL9A1_ENST00000320755.7_Missense_Mutation_p.A324V|COL9A1_ENST00000370499.4_Missense_Mutation_p.A324V	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1	567	Triple-helical region (COL2).				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						CTGCAATCCTGCATCACCAGG	0.383													22	26					0	0	1	0	0	A	70964198	G	A	70964198	3	1	81	1	0	0	0	0	1	0	0	0	3730	1319	46	2	1121	2	COL9A1	6	70964198	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	19900	70964198	100150869	5421	9037											
COL9A1	1297	broad.mit.edu	37	6	70984468	70984468	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:70984468G>A	ENST00000357250.6	-	11	1141	c.983C>T	c.(982-984)aCa>aTa	p.T328I	COL9A1_ENST00000489611.1_5'UTR|COL9A1_ENST00000320755.7_Missense_Mutation_p.T85I|COL9A1_ENST00000370499.4_Missense_Mutation_p.T85I	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1	328	Triple-helical region (COL3).				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						ATCAGGTCCTGTTAATCCCTA	0.358													16	19					0	0	1	0	0	A	70984468	G	A	70984468	3	1	81	1	0	0	0	0	1	0	0	0	3730	1377	48	2	1894	2	COL9A1	6	70984468	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	20270	70984468	100130599	5422	9038											
COL9A1	1297	broad.mit.edu	37	6	71003927	71003927	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:71003927G>A	ENST00000357250.6	-	5	797	c.639C>T	c.(637-639)gaC>gaT	p.D213D	COL9A1_ENST00000370496.3_Silent_p.D213D	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1	213	Nonhelical region (NC4).|TSP N-terminal.				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						AGCCATCAATGTCAATTGGGC	0.408													55	109					0	0	1	0	0	A	71003927	G	A	71003927	2	1	81	1	0	0	0	0	0	0	0	1	3730	1368	48	2		2	COL9A1	6	71003927	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	19459	71003927	100111140	5423	9039											
FAM135A	57579	broad.mit.edu	37	6	71234659	71234659	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:71234659T>C	ENST00000418814.2	+	15	2486	c.1872T>C	c.(1870-1872)gaT>gaC	p.D624D	FAM135A_ENST00000361499.3_Silent_p.D428D|FAM135A_ENST00000505769.1_Silent_p.D428D|FAM135A_ENST00000505868.1_Silent_p.D624D|FAM135A_ENST00000457062.2_Silent_p.D411D|FAM135A_ENST00000370479.3_Silent_p.D411D	NM_001105531.2|NM_001162529.1	NP_001099001.1|NP_001156001.1	Q9P2D6	F135A_HUMAN	family with sequence similarity 135, member A	624										breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38						CCCAGGACGATAGTGAAATTA	0.398													18	39					0	0	1	0	0	C	71234659	T	C	71234659	2	2	81	1	0	0	0	0	0	0	0	1	5479	1403	49	3		3	FAM135A	6	71234659	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	230732	71234659	99880408	5424	9040											
FAM135A	57579	broad.mit.edu	37	6	71236045	71236045	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:71236045G>T	ENST00000418814.2	+	15	3872	c.3258G>T	c.(3256-3258)gaG>gaT	p.E1086D	FAM135A_ENST00000361499.3_Missense_Mutation_p.E890D|FAM135A_ENST00000505769.1_Missense_Mutation_p.E666D|FAM135A_ENST00000505868.1_Missense_Mutation_p.E1086D|FAM135A_ENST00000457062.2_Missense_Mutation_p.E873D|FAM135A_ENST00000370479.3_Missense_Mutation_p.E873D	NM_001105531.2|NM_001162529.1	NP_001099001.1|NP_001156001.1	Q9P2D6	F135A_HUMAN	family with sequence similarity 135, member A	1086										breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38						AAGAGGATGAGGAGGAAGAGC	0.393													7	38					8.12818e-05	8.94031e-05	1	1	0	T	71236045	G	T	71236045	3	4	81	1	0	0	0	0	1	0	0	0	5479	991	35	4	3386	4	FAM135A	6	71236045	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1386	71236045	99879022	5425	9041											
SMAP1	60682	broad.mit.edu	37	6	71562252	71562252	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:71562252C>A	ENST00000370455.3	+	8	922	c.674C>A	c.(673-675)gCt>gAt	p.A225D	SMAP1_ENST00000370452.3_Missense_Mutation_p.A198D|SMAP1_ENST00000316999.5_Missense_Mutation_p.A198D	NM_001044305.1|NM_001281440.1	NP_001037770.1|NP_001268369.1	Q8IYB5	SMAP1_HUMAN	small ArfGAP 1	225					regulation of ARF GTPase activity	plasma membrane	ARF GTPase activator activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(1)	15						GATGGCCCTGCTGTGGCACCA	0.398													7	96					2.0095e-06	2.30238e-06	1	1	0	A	71562252	C	A	71562252	3	1	81	1	0	0	0	0	1	0	0	0	14820	797	28	4	704	4	SMAP1	6	71562252	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	326207	71562252	99552815	5426	9042											
RIMS1	22999	broad.mit.edu	37	6	72945373	72945373	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:72945373T>G	ENST00000264839.7	+	8	1799	c.1799T>G	c.(1798-1800)gTt>gGt	p.V600G	RIMS1_ENST00000517960.1_Missense_Mutation_p.V600G|RIMS1_ENST00000520567.1_Missense_Mutation_p.V600G|RIMS1_ENST00000517827.1_Missense_Mutation_p.V59G|RIMS1_ENST00000425662.2_5'UTR|RIMS1_ENST00000521978.1_Missense_Mutation_p.V600G|RIMS1_ENST00000401910.3_Missense_Mutation_p.V74G|RIMS1_ENST00000522291.1_Missense_Mutation_p.V600G|RIMS1_ENST00000523963.1_Missense_Mutation_p.V74G|RIMS1_ENST00000348717.5_Missense_Mutation_p.V600G|RIMS1_ENST00000491071.2_Missense_Mutation_p.V600G|RIMS1_ENST00000518273.1_Missense_Mutation_p.V600G			Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	600					calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				ATTGGACGTGTTATTCTTAAC	0.368													7	9					0	0	1	0	0	G	72945373	T	G	72945373	3	3	81	1	0	0	0	0	1	0	0	0	13419	1725	60	5	1992	5	RIMS1	6	72945373	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	1383121	72945373	98169694	5427	9043											
RIMS1	22999	broad.mit.edu	37	6	73110297	73110297	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:73110297G>A	ENST00000264839.7	+	30	4507	c.4507G>A	c.(4507-4509)Gga>Aga	p.G1503R	RIMS1_ENST00000517960.1_Missense_Mutation_p.G1437R|RIMS1_ENST00000520567.1_Missense_Mutation_p.G1304R|RIMS1_ENST00000517827.1_Missense_Mutation_p.G788R|RIMS1_ENST00000425662.2_Missense_Mutation_p.G722R|RIMS1_ENST00000521978.1_Missense_Mutation_p.G1654R|RIMS1_ENST00000401910.3_Missense_Mutation_p.G974R|RIMS1_ENST00000522291.1_Missense_Mutation_p.G1253R|RIMS1_ENST00000523963.1_Missense_Mutation_p.G779R|RIMS1_ENST00000348717.5_Missense_Mutation_p.G1437R|RIMS1_ENST00000538414.1_Missense_Mutation_p.G460R|RIMS1_ENST00000491071.2_Missense_Mutation_p.G1443R|RIMS1_ENST00000431478.2_3'UTR|RIMS1_ENST00000518273.1_Missense_Mutation_p.G1333R|RIMS1_ENST00000414192.2_Missense_Mutation_p.G181R			Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	1654					calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				CATGGTGATCGGATGGTACAA	0.542													31	34					0	0	1	0	0	A	73110297	G	A	73110297	3	1	81	1	0	0	0	0	1	0	0	0	13419	1117	39	1	5257	1	RIMS1	6	73110297	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	164924	73110297	98004770	5428	9044											
KCNQ5	56479	broad.mit.edu	37	6	73713638	73713638	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:73713638C>A	ENST00000342056.2	+	2	804	c.406C>A	c.(406-408)Ctt>Att	p.L136I	KCNQ5_ENST00000403813.2_Missense_Mutation_p.L136I|KCNQ5_ENST00000355194.4_Splice_Site|KCNQ5_ENST00000414165.2_Missense_Mutation_p.L136I|KCNQ5_ENST00000355635.3_Missense_Mutation_p.L136I|KCNQ5_ENST00000370398.1_Missense_Mutation_p.L136I|KCNQ5_ENST00000402622.2_Missense_Mutation_p.L136I|KCNQ5_ENST00000370392.1_Missense_Mutation_p.L136I	NM_001160132.1|NM_001160133.1	NP_001153604.1|NP_001153605.1	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5	136					protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity	p.L136I(1)		breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)		CAGTTTTCTCCTTGTCTTTGG	0.378													6	45					2.0095e-06	2.30238e-06	1	1	0	A	73713638	C	A	73713638	3	1	81	1	0	0	0	0	1	0	0	0	8130	681	24	4	412	4	KCNQ5	6	73713638	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	603341	73713638	97401429	5429	9045											
KCNQ5	56479	broad.mit.edu	37	6	73904319	73904319	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:73904319G>A	ENST00000342056.2	+	15	2436	c.2038G>A	c.(2038-2040)Gtg>Atg	p.V680M	KCNQ5_ENST00000403813.2_Missense_Mutation_p.V652M|KCNQ5_ENST00000355194.4_Missense_Mutation_p.V661M|KCNQ5_ENST00000414165.2_Missense_Mutation_p.V551M|KCNQ5_ENST00000355635.3_Missense_Mutation_p.V662M|KCNQ5_ENST00000370398.1_Missense_Mutation_p.V661M|KCNQ5_ENST00000402622.2_Missense_Mutation_p.V671M	NM_001160132.1|NM_001160133.1	NP_001153604.1|NP_001153605.1	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5	661					protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)		TCAAAGCCCTGTGGATAGCAA	0.502													7	66					0	0	1	0	0	A	73904319	G	A	73904319	3	1	81	1	0	0	0	0	1	0	0	0	8130	1377	48	2	2096	2	KCNQ5	6	73904319	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	190681	73904319	97210748	5430	9046											
KCNQ5	56479	broad.mit.edu	37	6	73905007	73905007	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:73905007C>T	ENST00000342056.2	+	15	3124	c.2726C>T	c.(2725-2727)cCg>cTg	p.P909L	KCNQ5_ENST00000403813.2_Missense_Mutation_p.P881L|KCNQ5_ENST00000355194.4_Missense_Mutation_p.P890L|KCNQ5_ENST00000414165.2_Missense_Mutation_p.P780L|KCNQ5_ENST00000355635.3_Missense_Mutation_p.P891L|KCNQ5_ENST00000370398.1_Missense_Mutation_p.P890L|KCNQ5_ENST00000402622.2_Missense_Mutation_p.P900L	NM_001160132.1|NM_001160133.1	NP_001153604.1|NP_001153605.1	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5	890				R -> Q (in Ref. 6; AAF73446).	protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)		GATGCCGCACCGCAGCCTGCC	0.488													17	45					0	0	1	0	0	T	73905007	C	T	73905007	3	4	81	1	0	0	0	0	1	0	0	0	8130	652	23	1	2784	1	KCNQ5	6	73905007	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	688	73905007	97210060	5431	9047											
KHDC1	80759	broad.mit.edu	37	6	73951801	73951801	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:73951801T>C	ENST00000423730.3	-	3	707	c.272A>G	c.(271-273)cAg>cGg	p.Q91R	KHDC1_ENST00000257765.5_Missense_Mutation_p.Q91R|KHDC1_ENST00000370384.3_Missense_Mutation_p.Q164R																							ATAGGAGTCCTGGCTCCCCAC	0.517													8	13					0	0	1	0	0	C	73951801	T	C	73951801	3	2	81	1	0	0	0	0	1	0	0	0	8187	1580	55	3	230	3	KHDC1	6	73951801	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	46794	73951801	97163266	5432	9048											
KHDC1	80759	broad.mit.edu	37	6	73952237	73952237	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:73952237C>T	ENST00000423730.3	-	2	439	c.4G>A	c.(4-6)Gac>Aac	p.D2N	KHDC1_ENST00000257765.5_Missense_Mutation_p.D2N|KHDC1_ENST00000370384.3_Missense_Mutation_p.D75N																							GTTCCCATGTCCATGCTCTGC	0.527													20	30					0	0	1	0	0	T	73952237	C	T	73952237	3	4	81	1	0	0	0	0	1	0	0	0	8187	855	30	2	502	2	KHDC1	6	73952237	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	436	73952237	97162830	5433	9049											
OOEP	441161	broad.mit.edu	37	6	74104640	74104640	+	Translation_Start_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:74104640C>T	ENST00000370363.1	-	0	176				DDX43_ENST00000370336.4_Silent_p.H4H|DDX43_ENST00000539829.1_Silent_p.H4H			A6NGQ2	OOEP_HUMAN	oocyte expressed protein							cytoplasm		p.H4H(1)		large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	8						TGTCCCACCACGGAGGAGCTC	0.632													7	52					0	0	1	0	0	T	74104640	C	T	74104640	1	4	81	1	0	0	0	0	0	0	0	0	10918	535	19	1		1	OOEP	6	74104640	Translation_Start_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	152403	74104640	97010427	5434	9050											
DDX43	55510	broad.mit.edu	37	6	74104764	74104764	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:74104764G>A	ENST00000370336.4	+	1	294	c.136G>A	c.(136-138)Ggc>Agc	p.G46S	OOEP_ENST00000370363.1_5'UTR|DDX43_ENST00000539829.1_Missense_Mutation_p.G46S	NM_018665.2	NP_061135.2	Q9NXZ2	DDX43_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 43	46						intracellular	ATP binding|ATP-dependent RNA helicase activity|RNA binding			NS(1)|breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						ATATAGTGTCGGCAGAGGTGG	0.622											OREG0003900	type=REGULATORY REGION|Gene=BC024931|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	26	45					0	0	1	0	0	A	74104764	G	A	74104764	3	1	81	1	0	0	0	0	1	0	0	0	4386	1116	39	1	138	1	DDX43	6	74104764	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	124	74104764	97010303	5435	9051											
DDX43	55510	broad.mit.edu	37	6	74123458	74123458	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:74123458G>T	ENST00000370336.4	+	12	1604	c.1446G>T	c.(1444-1446)caG>caT	p.Q482H	MB21D1_ENST00000370318.1_3'UTR|DDX43_ENST00000479773.1_3'UTR	NM_018665.2	NP_061135.2	Q9NXZ2	DDX43_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 43	482	Helicase C-terminal.					intracellular	ATP binding|ATP-dependent RNA helicase activity|RNA binding			NS(1)|breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						CTTTTCTACAGAGTATGTCAT	0.343													28	47					6.38683e-12	7.95227e-12	1	1	0	T	74123458	G	T	74123458	3	4	81	1	0	0	0	0	1	0	0	0	4386	933	33	4	1492	4	DDX43	6	74123458	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	18694	74123458	96991609	5436	9052											
EEF1A1	1915	broad.mit.edu	37	6	74229613	74229613	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:74229613G>T	ENST00000316292.9	-	1	1128	c.137C>A	c.(136-138)gCt>gAt	p.A46D	EEF1A1_ENST00000309268.6_Missense_Mutation_p.A46D|EEF1A1_ENST00000331523.2_Missense_Mutation_p.A46D	NM_001402.5	NP_001393.1	P68104	EF1A1_HUMAN	eukaryotic translation elongation factor 1 alpha 1	46						cytosol|eukaryotic translation elongation factor 1 complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|prostate(2)|skin(3)	18						TACCTCAGCAGCCTCCTTCTC	0.418													35	62					6.04917e-29	8.05194e-29	1	1	0	T	74229613	G	T	74229613	3	4	81	1	0	0	0	0	1	0	0	0	4949	971	34	4	1279	4	EEF1A1	6	74229613	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	106155	74229613	96885454	5437	9053											
SLC17A5	26503	broad.mit.edu	37	6	74304812	74304812	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:74304812T>C	ENST00000355773.5	-	11	1744	c.1476A>G	c.(1474-1476)ggA>ggG	p.G492G		NM_012434.4	NP_036566.1	Q9NRA2	S17A5_HUMAN	solute carrier family 17 (acidic sugar transporter), member 5	492					anion transport	integral to plasma membrane|lysosomal membrane|membrane fraction	sialic acid:hydrogen symporter activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						AGTGTCTGTGTCCATGGTGAT	0.358													34	79					0	0	1	0	0	C	74304812	T	C	74304812	2	2	81	1	0	0	0	0	0	0	0	1	14475	1654	58	3		3	SLC17A5	6	74304812	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	75199	74304812	96810255	5438	9054											
CD109	135228	broad.mit.edu	37	6	74468752	74468752	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:74468752G>T	ENST00000437994.2	+	7	1189		c.e7+1		CD109_ENST00000422508.2_Splice_Site|CD109_ENST00000287097.5_Splice_Site	NM_001159587.1|NM_133493.3	NP_001153059.1|NP_598000.2	Q6YHK3	CD109_HUMAN	CD109 molecule							anchored to membrane|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TCACGGCAAAGTAAGTGTCAT	0.313													7	21					1.06961e-07	1.25755e-07	1	1	0	T	74468752	G	T	74468752	5	4	81	1	0	0	0	0	0	0	1	0	2985	1043	36	4	785	4	CD109	6	74468752	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	163940	74468752	96646315	5439	9055											
CD109	135228	broad.mit.edu	37	6	74517834	74517835	+	Frame_Shift_Ins	INS	-	-	T	rs35580099		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:74517834_74517835insT	ENST00000437994.2	+	26	3649_3650	c.3218_3219insT	c.(3217-3222)cattttfs	p.HF1073fs	CD109_ENST00000422508.2_Frame_Shift_Ins_p.HF996fs|CD109_ENST00000287097.5_Frame_Shift_Ins_p.HF1073fs	NM_001159587.1|NM_133493.3	NP_001153059.1|NP_598000.2	Q6YHK3	CD109_HUMAN	CD109 molecule	1073						anchored to membrane|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GAGTCTATCCATTTTTTGGAGT	0.356													17	47	---	---	---	---						T	74517835	-	T	74517834	7	5	81	1	0	1	1	0	0	0	0	0	2985	217	8	0	3320	0	CD109	6	74517834	Frame_Shift_Ins	INS	-	TCGA-DU-6392-01A-11D-1705-08	49082	74517834	96597233	5440	9056											
CD109	135228	broad.mit.edu	37	6	74520848	74520848	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:74520848G>A	ENST00000422508.2	+	27	3880	c.3449G>A	c.(3448-3450)cGc>cAc	p.R1150H	CD109_ENST00000287097.5_Missense_Mutation_p.R1227H|CD109_ENST00000437994.2_Intron	NM_001159588.1	NP_001153060.1	Q6YHK3	CD109_HUMAN	CD109 molecule	1227						anchored to membrane|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity	p.R1227L(1)		NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						ACACACAACCGCTTACTCCTT	0.428													26	18					0	0	1	0	0	A	74520848	G	A	74520848	3	1	81	1	0	0	0	0	1	0	0	0	2985	1087	38	1	3790	1	CD109	6	74520848	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	3014	74520848	96594219	5441	9057											
COL12A1	1303	broad.mit.edu	37	6	75797421	75797421	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:75797421C>T	ENST00000322507.8	-	65	9362	c.9053G>A	c.(9052-9054)gGt>gAt	p.G3018D	COL12A1_ENST00000483888.2_Missense_Mutation_p.G3014D|COL12A1_ENST00000345356.6_Missense_Mutation_p.G1854D|COL12A1_ENST00000416123.2_Missense_Mutation_p.G2942D	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	3018	Triple-helical region (COL1) with 2 imperfections.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						ACCTCTTGAACCTGTGGACCC	0.532													23	49					0	0	1	0	0	T	75797421	C	T	75797421	3	4	81	1	0	0	0	0	1	0	0	0	3692	507	18	2	146	2	COL12A1	6	75797421	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1276573	75797421	95317646	5442	9058											
COL12A1	1303	broad.mit.edu	37	6	75843580	75843580	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:75843580C>A	ENST00000322507.8	-	33	5967	c.5658G>T	c.(5656-5658)gaG>gaT	p.E1886D	COL12A1_ENST00000483888.2_Missense_Mutation_p.E1886D|COL12A1_ENST00000345356.6_Missense_Mutation_p.E722D|COL12A1_ENST00000416123.2_Missense_Mutation_p.E1886D	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	1886	Fibronectin type-III 14.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						TTACCAGTTCCTCTGGACCAC	0.433													15	26					1.3612e-06	1.56842e-06	1	1	0	A	75843580	C	A	75843580	3	1	81	1	0	0	0	0	1	0	0	0	3692	680	24	4	3669	4	COL12A1	6	75843580	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	46159	75843580	95271487	5443	9059											
COL12A1	1303	broad.mit.edu	37	6	75844497	75844497	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:75844497T>C	ENST00000322507.8	-	32	5778	c.5469A>G	c.(5467-5469)gtA>gtG	p.V1823V	COL12A1_ENST00000483888.2_Silent_p.V1823V|COL12A1_ENST00000345356.6_Silent_p.V659V|COL12A1_ENST00000416123.2_Silent_p.V1823V	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	1823	Fibronectin type-III 13.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						ACAGAGAGGATACGGTGATAG	0.463													28	53					0	0	1	0	0	C	75844497	T	C	75844497	2	2	81	1	0	0	0	0	0	0	0	1	3692	1393	49	3		3	COL12A1	6	75844497	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	917	75844497	95270570	5444	9060	41	2									
COL12A1	1303	broad.mit.edu	37	6	75844499	75844499	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:75844499C>T	ENST00000322507.8	-	32	5776	c.5467G>A	c.(5467-5469)Gta>Ata	p.V1823I	COL12A1_ENST00000483888.2_Missense_Mutation_p.V1823I|COL12A1_ENST00000345356.6_Missense_Mutation_p.V659I|COL12A1_ENST00000416123.2_Missense_Mutation_p.V1823I	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	1823	Fibronectin type-III 13.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						AGAGAGGATACGGTGATAGTG	0.468													24	56					0	0	1	0	0	T	75844499	C	T	75844499	3	4	81	1	0	0	0	0	1	0	0	0	3692	536	19	1	3864	1	COL12A1	6	75844499	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2	75844499	95270568	5445	9061	41	2									
COL12A1	1303	broad.mit.edu	37	6	75875447	75875447	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:75875447G>A	ENST00000322507.8	-	14	3068	c.2759C>T	c.(2758-2760)tCa>tTa	p.S920L	COL12A1_ENST00000483888.2_Missense_Mutation_p.S920L|COL12A1_ENST00000345356.6_Intron|COL12A1_ENST00000416123.2_Missense_Mutation_p.S920L	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	920	Fibronectin type-III 6.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength	p.S920L(1)		breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						AGCCCCAATTGATGTGTCAGT	0.378													15	73					0	0	1	0	0	A	75875447	G	A	75875447	3	1	81	1	0	0	0	0	1	0	0	0	3692	1294	45	2	6644	2	COL12A1	6	75875447	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	30948	75875447	95239620	5446	9062											
COL12A1	1303	broad.mit.edu	37	6	75893332	75893332	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:75893332A>G	ENST00000322507.8	-	10	1634	c.1325T>C	c.(1324-1326)gTg>gCg	p.V442A	COL12A1_ENST00000483888.2_Missense_Mutation_p.V442A|COL12A1_ENST00000345356.6_Intron|COL12A1_ENST00000416123.2_Missense_Mutation_p.V442A	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	442	VWFA 2.			IV -> M (in Ref. 4; AAC01506).	cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						AACCAAAAACACAATATCGGC	0.299													41	72					0	0	1	0	0	G	75893332	A	G	75893332	3	3	81	1	0	0	0	0	1	0	0	0	3692	159	6	3	8094	3	COL12A1	6	75893332	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	17885	75893332	95221735	5447	9063											
SENP6	26054	broad.mit.edu	37	6	76343307	76343307	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:76343307G>A	ENST00000370014.3	+	4	837	c.218G>A	c.(217-219)cGa>cAa	p.R73Q	SENP6_ENST00000370010.2_Missense_Mutation_p.R73Q|SENP6_ENST00000447266.2_Missense_Mutation_p.R73Q|SENP6_ENST00000327284.8_Missense_Mutation_p.R73Q	NM_001100409.1	NP_001093879.1	Q9GZR1	SENP6_HUMAN	SUMO1/sentrin specific peptidase 6	73					proteolysis	cytoplasm|nucleus	cysteine-type peptidase activity			breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(105;0.189)				TTAAATCGTCGATCTGAAATT	0.299													4	46					0	0	1	0	0	A	76343307	G	A	76343307	3	1	81	1	0	0	0	0	1	0	0	0	14104	1058	37	1	232	1	SENP6	6	76343307	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	449975	76343307	94771760	5448	9064											
SENP6	26054	broad.mit.edu	37	6	76343439	76343439	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:76343439T>C	ENST00000370014.3	+	4	969	c.350T>C	c.(349-351)tTg>tCg	p.L117S	SENP6_ENST00000370010.2_Missense_Mutation_p.L117S|SENP6_ENST00000447266.2_Missense_Mutation_p.L117S|SENP6_ENST00000327284.8_Missense_Mutation_p.L117S	NM_001100409.1	NP_001093879.1	Q9GZR1	SENP6_HUMAN	SUMO1/sentrin specific peptidase 6	117					proteolysis	cytoplasm|nucleus	cysteine-type peptidase activity			breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(105;0.189)				AATAAGAAATTGAGGTATAGG	0.358													17	32					0	0	1	0	0	C	76343439	T	C	76343439	3	2	81	1	0	0	0	0	1	0	0	0	14104	1821	63	3	364	3	SENP6	6	76343439	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	132	76343439	94771628	5449	9065											
SENP6	26054	broad.mit.edu	37	6	76385598	76385598	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:76385598G>T	ENST00000370014.3	+	13	2068	c.1449G>T	c.(1447-1449)gaG>gaT	p.E483D	SENP6_ENST00000370010.2_Missense_Mutation_p.E476D|SENP6_ENST00000447266.2_Missense_Mutation_p.E483D|SENP6_ENST00000541192.1_Missense_Mutation_p.E79D|SENP6_ENST00000327284.8_Missense_Mutation_p.E476D	NM_001100409.1	NP_001093879.1	Q9GZR1	SENP6_HUMAN	SUMO1/sentrin specific peptidase 6	483					proteolysis	cytoplasm|nucleus	cysteine-type peptidase activity			breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(105;0.189)				ATCCTGTAGAGATTATATTAA	0.343													19	41					3.99206e-14	5.05776e-14	1	1	0	T	76385598	G	T	76385598	3	4	81	1	0	0	0	0	1	0	0	0	14104	933	33	4	1499	4	SENP6	6	76385598	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	42159	76385598	94729469	5450	9066											
SENP6	26054	broad.mit.edu	37	6	76412676	76412676	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:76412676G>A	ENST00000370014.3	+	19	3223	c.2604G>A	c.(2602-2604)gcG>gcA	p.A868A	SENP6_ENST00000370010.2_Silent_p.A861A|SENP6_ENST00000447266.2_Silent_p.A868A|SENP6_ENST00000541192.1_Intron	NM_001100409.1	NP_001093879.1	Q9GZR1	SENP6_HUMAN	SUMO1/sentrin specific peptidase 6	868	Protease.				proteolysis	cytoplasm|nucleus	cysteine-type peptidase activity			breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(105;0.189)				ATCATACTGCGAGTGAAAATG	0.358													66	88					0	0	1	0	0	A	76412676	G	A	76412676	2	1	81	1	0	0	0	0	0	0	0	1	14104	1045	37	1		1	SENP6	6	76412676	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	27078	76412676	94702391	5451	9067											
MYO6	4646	broad.mit.edu	37	6	76582984	76582984	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:76582984G>A	ENST00000369981.3	+	20	2323	c.2044G>A	c.(2044-2046)Ggt>Agt	p.G682S	MYO6_ENST00000369985.4_Missense_Mutation_p.G682S|MYO6_ENST00000369977.3_Missense_Mutation_p.G682S|MYO6_ENST00000462633.1_3'UTR|MYO6_ENST00000369975.1_Missense_Mutation_p.G682S			Q9UM54	MYO6_HUMAN	myosin VI	682	Myosin head-like.				actin filament-based movement|DNA damage response, signal transduction by p53 class mediator|endocytosis|intracellular protein transport|positive regulation of transcription from RNA polymerase II promoter|regulation of secretion|sensory perception of sound|synaptic transmission	cell cortex|clathrin coated vesicle membrane|coated pit|cytosol|DNA-directed RNA polymerase II, holoenzyme|filamentous actin|Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|ruffle membrane|unconventional myosin complex	actin filament binding|ADP binding|ATP binding|calmodulin binding|minus-end directed microfilament motor activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	58		all_hematologic(105;0.189)		BRCA - Breast invasive adenocarcinoma(397;0.223)		CCACTTTGAAGGTGCTCAAAT	0.358													11	30					0	0	1	0	0	A	76582984	G	A	76582984	3	1	81	1	0	0	0	0	1	0	0	0	10129	1000	35	2	2118	2	MYO6	6	76582984	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	170308	76582984	94532083	5452	9068											
MYO6	4646	broad.mit.edu	37	6	76618317	76618317	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:76618317C>T	ENST00000369981.3	+	33	3694	c.3415C>T	c.(3415-3417)Cgt>Tgt	p.R1139C	MYO6_ENST00000369985.4_Missense_Mutation_p.R1106C|MYO6_ENST00000369977.3_Missense_Mutation_p.R1129C|MYO6_ENST00000369975.1_Missense_Mutation_p.R1106C			Q9UM54	MYO6_HUMAN	myosin VI	1138					actin filament-based movement|DNA damage response, signal transduction by p53 class mediator|endocytosis|intracellular protein transport|positive regulation of transcription from RNA polymerase II promoter|regulation of secretion|sensory perception of sound|synaptic transmission	cell cortex|clathrin coated vesicle membrane|coated pit|cytosol|DNA-directed RNA polymerase II, holoenzyme|filamentous actin|Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|ruffle membrane|unconventional myosin complex	actin filament binding|ADP binding|ATP binding|calmodulin binding|minus-end directed microfilament motor activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	58		all_hematologic(105;0.189)		BRCA - Breast invasive adenocarcinoma(397;0.223)		AACAGAGCAACGTGCTCCAAA	0.343													36	63					0	0	1	0	0	T	76618317	C	T	76618317	3	4	81	1	0	0	0	0	1	0	0	0	10129	536	19	1	3507	1	MYO6	6	76618317	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	35333	76618317	94496750	5453	9069											
IMPG1	3617	broad.mit.edu	37	6	76715175	76715175	+	Missense_Mutation	SNP	G	G	T	rs140525637	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:76715175G>T	ENST00000369950.3	-	10	1153	c.964C>A	c.(964-966)Ctc>Atc	p.L322I	IMPG1_ENST00000369963.3_3'UTR	NM_001282368.1|NM_001563.2	NP_001269297.1|NP_001554.2	Q17R60	IMPG1_HUMAN	interphotoreceptor matrix proteoglycan 1	322	SEA 1.				visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity			breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				AAAGACAGGAGGTCACTTGCA	0.453													28	46					2.44723e-14	3.10401e-14	1	1	0	T	76715175	G	T	76715175	3	4	81	1	0	0	0	0	1	0	0	0	7772	1000	35	4	1461	4	IMPG1	6	76715175	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	96858	76715175	94399892	5454	9070											
PHIP	55023	broad.mit.edu	37	6	79650991	79650991	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:79650991C>A	ENST00000275034.4	-	40	5052	c.4885G>T	c.(4885-4887)Gga>Tga	p.G1629*	PHIP_ENST00000479165.1_5'UTR	NM_017934.5	NP_060404	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	1629					insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis	nucleus	insulin receptor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		GATGGCTGTCCTCCATGGCCA	0.383													21	116					1.9806e-07	2.31852e-07	1	1	0	A	79650991	C	A	79650991	4	1	81	1	0	0	0	0	0	1	0	0	11890	690	24	4	584	4	PHIP	6	79650991	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2935816	79650991	91464076	5455	9071											
PHIP	55023	broad.mit.edu	37	6	79655810	79655810	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:79655810A>G	ENST00000275034.4	-	38	4705	c.4538T>C	c.(4537-4539)gTa>gCa	p.V1513A	PHIP_ENST00000479165.1_5'UTR	NM_017934.5	NP_060404	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	1513					insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis	nucleus	insulin receptor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		AACTGGATCTACAACCACTCG	0.423													16	60					0	0	1	0	0	G	79655810	A	G	79655810	3	3	81	1	0	0	0	0	1	0	0	0	11890	391	14	3	939	3	PHIP	6	79655810	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	4819	79655810	91459257	5456	9072											
PHIP	55023	broad.mit.edu	37	6	79657341	79657341	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:79657341C>A	ENST00000275034.4	-	36	4372	c.4205G>T	c.(4204-4206)aGg>aTg	p.R1402M	PHIP_ENST00000479165.1_5'UTR	NM_017934.5	NP_060404	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	1402	Bromo 2.				insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis	nucleus	insulin receptor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		ATTATATACCCTTGATCTTTT	0.303													15	29					1.45105e-14	1.84293e-14	1	1	0	A	79657341	C	A	79657341	5	1	81	1	0	0	0	0	0	0	1	0	11890	695	24	4	1280	4	PHIP	6	79657341	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1531	79657341	91457726	5457	9073											
PHIP	55023	broad.mit.edu	37	6	79700587	79700587	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:79700587T>C	ENST00000275034.4	-	20	2484	c.2317A>G	c.(2317-2319)Aag>Gag	p.K773E		NM_017934.5	NP_060404	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	773					insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis	nucleus	insulin receptor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		ATATGTACCTTTGAGACAGTG	0.303													4	41					0	0	1	0	0	C	79700587	T	C	79700587	3	2	81	1	0	0	0	0	1	0	0	0	11890	1850	64	3	3232	3	PHIP	6	79700587	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	43246	79700587	91414480	5458	9074											
LCA5	167691	broad.mit.edu	37	6	80196729	80196729	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:80196729G>A	ENST00000392959.1	-	9	2697	c.2086C>T	c.(2086-2088)Ctg>Ttg	p.L696L	LCA5_ENST00000369846.4_Silent_p.L696L	NM_181714.3	NP_859065.2	Q86VQ0	LCA5_HUMAN	Leber congenital amaurosis 5	696					protein transport	cilium axoneme|microtubule basal body	protein binding			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	32		all_cancers(76;3.32e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.0176)		BRCA - Breast invasive adenocarcinoma(397;0.0657)		AGTCATCTCAGTGCTACTTCT	0.279													5	35					0	0	1	0	0	A	80196729	G	A	80196729	2	1	81	1	0	0	0	0	0	0	0	1	8695	1020	36	2		2	LCA5	6	80196729	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	496142	80196729	90918338	5459	9075											
LCA5	167691	broad.mit.edu	37	6	80197018	80197018	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:80197018C>A	ENST00000392959.1	-	9	2408	c.1797G>T	c.(1795-1797)gaG>gaT	p.E599D	LCA5_ENST00000369846.4_Missense_Mutation_p.E599D	NM_181714.3	NP_859065.2	Q86VQ0	LCA5_HUMAN	Leber congenital amaurosis 5	599					protein transport	cilium axoneme|microtubule basal body	protein binding	p.E599D(1)		haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	32		all_cancers(76;3.32e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.0176)		BRCA - Breast invasive adenocarcinoma(397;0.0657)		TAGCTTTTTTCTCTTTTCTTG	0.358													44	72					6.21074e-16	7.94764e-16	1	1	0	A	80197018	C	A	80197018	3	1	81	1	0	0	0	0	1	0	0	0	8695	912	32	4	300	4	LCA5	6	80197018	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	289	80197018	90918049	5460	9076											
TTK	7272	broad.mit.edu	37	6	80717747	80717747	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:80717747G>T	ENST00000509894.1	+	3	1190	c.361G>T	c.(361-363)Gct>Tct	p.A121S	TTK_ENST00000230510.3_Splice_Site_p.A121S|TTK_ENST00000369798.2_Splice_Site_p.A121S			P33981	TTK_HUMAN	TTK protein kinase	121					mitotic cell cycle spindle assembly checkpoint|mitotic spindle organization|positive regulation of cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation	spindle	ATP binding|identical protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1)	53		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)		BRCA - Breast invasive adenocarcinoma(397;0.0321)		TGAATTAAAAGCGTAAGTATT	0.333													9	20					2.17888e-05	2.43576e-05	1	1	0	T	80717747	G	T	80717747	5	4	81	1	0	0	0	0	0	0	1	0	16782	985	34	4	367	4	TTK	6	80717747	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	520729	80717747	90397320	5461	9077											
TTK	7272	broad.mit.edu	37	6	80744846	80744846	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:80744846C>T	ENST00000509894.1	+	15	2585	c.1756C>T	c.(1756-1758)Cga>Tga	p.R586*	TTK_ENST00000369798.2_Nonsense_Mutation_p.R587*|TTK_ENST00000230510.3_Nonsense_Mutation_p.R586*			P33981	TTK_HUMAN	TTK protein kinase	587	Protein kinase.				mitotic cell cycle spindle assembly checkpoint|mitotic spindle organization|positive regulation of cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation	spindle	ATP binding|identical protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1)	53		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)		BRCA - Breast invasive adenocarcinoma(397;0.0321)		TAAGATCATCCGACTTTATGA	0.279													28	47					0	0	1	0	0	T	80744846	C	T	80744846	4	4	81	1	0	0	0	0	0	1	0	0	16782	644	23	1	1813	1	TTK	6	80744846	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	27099	80744846	90370221	5462	9078											
FAM46A	55603	broad.mit.edu	37	6	82459934	82459934	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:82459934C>A	ENST00000369754.3	-	3	1176	c.864G>T	c.(862-864)caG>caT	p.Q288H	FAM46A_ENST00000320172.6_Missense_Mutation_p.Q269H|FAM46A_ENST00000369756.3_Missense_Mutation_p.Q350H			Q96IP4	FA46A_HUMAN	family with sequence similarity 46, member A	269										endometrium(2)|large_intestine(3)|lung(5)|skin(1)|urinary_tract(1)	12		all_cancers(76;6.74e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000282)|all_epithelial(107;0.0104)		BRCA - Breast invasive adenocarcinoma(397;0.0428)		CAAAGGCTTCCTGGAAATCGC	0.478													16	39					1.56452e-12	1.95836e-12	1	1	0	A	82459934	C	A	82459934	3	1	81	1	0	0	0	0	1	0	0	0	5601	680	24	4	525	4	FAM46A	6	82459934	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1715088	82459934	88655133	5463	9079											
IBTK	25998	broad.mit.edu	37	6	82883084	82883084	+	Splice_Site	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:82883084T>C	ENST00000306270.7	-	27	4346	c.3797A>G	c.(3796-3798)aAt>aGt	p.N1266S	IBTK_ENST00000510291.1_Splice_Site_p.N1251S|IBTK_ENST00000503631.1_Splice_Site_p.N1065S	NM_015525.2	NP_056340.2	Q9P2D0	IBTK_HUMAN	inhibitor of Bruton agammaglobulinemia tyrosine kinase	1266					negative regulation of protein phosphorylation|release of sequestered calcium ion into cytosol	cytoplasm|membrane|nucleus	protein kinase binding|protein tyrosine kinase inhibitor activity			central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(10)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	54		all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037)		BRCA - Breast invasive adenocarcinoma(397;0.0901)		TTAACCTTACTTGGGACTGTC	0.423													16	49					0	0	1	0	0	C	82883084	T	C	82883084	5	2	81	1	0	0	0	0	0	0	1	0	7520	1623	56	3	276	3	IBTK	6	82883084	Splice_Site	SNP	T	TCGA-DU-6392-01A-11D-1705-08	423150	82883084	88231983	5464	9080											
IBTK	25998	broad.mit.edu	37	6	82883097	82883097	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:82883097G>T	ENST00000306270.7	-	27	4333	c.3784C>A	c.(3784-3786)Cta>Ata	p.L1262I	IBTK_ENST00000510291.1_Missense_Mutation_p.L1247I|IBTK_ENST00000503631.1_Missense_Mutation_p.L1061I	NM_015525.2	NP_056340.2	Q9P2D0	IBTK_HUMAN	inhibitor of Bruton agammaglobulinemia tyrosine kinase	1262					negative regulation of protein phosphorylation|release of sequestered calcium ion into cytosol	cytoplasm|membrane|nucleus	protein kinase binding|protein tyrosine kinase inhibitor activity			central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(10)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	54		all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037)		BRCA - Breast invasive adenocarcinoma(397;0.0901)		GGACTGTCTAGAAGTGGTAAA	0.413													19	53					4.54149e-19	5.90752e-19	1	1	0	T	82883097	G	T	82883097	3	4	81	1	0	0	0	0	1	0	0	0	7520	933	33	4	289	4	IBTK	6	82883097	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	13	82883097	88231970	5465	9081											
IBTK	25998	broad.mit.edu	37	6	82912354	82912354	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:82912354T>G	ENST00000306270.7	-	18	3169	c.2620A>C	c.(2620-2622)Aag>Cag	p.K874Q	IBTK_ENST00000510291.1_Missense_Mutation_p.K874Q|IBTK_ENST00000503631.1_Missense_Mutation_p.K673Q	NM_015525.2	NP_056340.2	Q9P2D0	IBTK_HUMAN	inhibitor of Bruton agammaglobulinemia tyrosine kinase	874					negative regulation of protein phosphorylation|release of sequestered calcium ion into cytosol	cytoplasm|membrane|nucleus	protein kinase binding|protein tyrosine kinase inhibitor activity			central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(10)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	54		all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037)		BRCA - Breast invasive adenocarcinoma(397;0.0901)		GCAGCATTCTTCAGGGTAACT	0.328													46	63					0	0	1	0	0	G	82912354	T	G	82912354	3	3	81	1	0	0	0	0	1	0	0	0	7520	1792	62	5	1489	5	IBTK	6	82912354	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	29257	82912354	88202713	5466	9082											
IBTK	25998	broad.mit.edu	37	6	82925825	82925825	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:82925825G>T	ENST00000306270.7	-	11	2118	c.1569C>A	c.(1567-1569)aaC>aaA	p.N523K	IBTK_ENST00000510291.1_Missense_Mutation_p.N523K|IBTK_ENST00000503631.1_Missense_Mutation_p.N523K	NM_015525.2	NP_056340.2	Q9P2D0	IBTK_HUMAN	inhibitor of Bruton agammaglobulinemia tyrosine kinase	523					negative regulation of protein phosphorylation|release of sequestered calcium ion into cytosol	cytoplasm|membrane|nucleus	protein kinase binding|protein tyrosine kinase inhibitor activity			central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(10)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	54		all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037)		BRCA - Breast invasive adenocarcinoma(397;0.0901)		GGATTGCAAAGTTGCATCCAC	0.338													19	45					1.64293e-13	2.07283e-13	1	1	0	T	82925825	G	T	82925825	3	4	81	1	0	0	0	0	1	0	0	0	7520	1020	36	4	2568	4	IBTK	6	82925825	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	13471	82925825	88189242	5467	9083											
IBTK	25998	broad.mit.edu	37	6	82933169	82933169	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:82933169T>C	ENST00000306270.7	-	8	1661	c.1112A>G	c.(1111-1113)aAg>aGg	p.K371R	IBTK_ENST00000510291.1_Missense_Mutation_p.K371R|IBTK_ENST00000503631.1_Missense_Mutation_p.K371R	NM_015525.2	NP_056340.2	Q9P2D0	IBTK_HUMAN	inhibitor of Bruton agammaglobulinemia tyrosine kinase	371					negative regulation of protein phosphorylation|release of sequestered calcium ion into cytosol	cytoplasm|membrane|nucleus	protein kinase binding|protein tyrosine kinase inhibitor activity			central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(10)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	54		all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037)		BRCA - Breast invasive adenocarcinoma(397;0.0901)		AGAAGCCATCTTCTTGCACTG	0.368													6	52					0	0	1	0	0	C	82933169	T	C	82933169	3	2	81	1	0	0	0	0	1	0	0	0	7520	1609	56	3	3037	3	IBTK	6	82933169	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	7344	82933169	88181898	5468	9084											
DOPEY1	23033	broad.mit.edu	37	6	83831684	83831684	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:83831684T>G	ENST00000349129.2	+	11	1395	c.1135T>G	c.(1135-1137)Ttt>Gtt	p.F379V	DOPEY1_ENST00000369739.3_Missense_Mutation_p.F370V|DOPEY1_ENST00000536812.1_3'UTR|DOPEY1_ENST00000237163.5_Missense_Mutation_p.F370V	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	379					protein transport					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		GATTGAAGTGTTTAGAACATT	0.338													34	49					0	0	1	0	0	G	83831684	T	G	83831684	3	3	81	1	0	0	0	0	1	0	0	0	4734	1725	60	5	1169	5	DOPEY1	6	83831684	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	898515	83831684	87283383	5469	9085											
DOPEY1	23033	broad.mit.edu	37	6	83848136	83848136	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:83848136C>A	ENST00000349129.2	+	21	4635	c.4375C>A	c.(4375-4377)Ctc>Atc	p.L1459I	DOPEY1_ENST00000369739.3_Missense_Mutation_p.L1450I|DOPEY1_ENST00000484282.1_3'UTR|DOPEY1_ENST00000237163.5_Missense_Mutation_p.L1440I	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	1459					protein transport					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		TCTTATTTCTCTCTGCTTATA	0.363													12	109					2.80697e-09	3.37799e-09	1	1	0	A	83848136	C	A	83848136	3	1	81	1	0	0	0	0	1	0	0	0	4734	913	32	4	4449	4	DOPEY1	6	83848136	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	16452	83848136	87266931	5470	9086											
DOPEY1	23033	broad.mit.edu	37	6	83857007	83857007	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:83857007A>G	ENST00000349129.2	+	26	5989	c.5729A>G	c.(5728-5730)cAa>cGa	p.Q1910R	DOPEY1_ENST00000369739.3_Missense_Mutation_p.Q1901R|DOPEY1_ENST00000484282.1_3'UTR|DOPEY1_ENST00000237163.5_Missense_Mutation_p.Q1891R	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	1910					protein transport					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		GCTTATATTCAAAGGTAAGAT	0.284													12	24					0	0	1	0	0	G	83857007	A	G	83857007	3	3	81	1	0	0	0	0	1	0	0	0	4734	130	5	3	5823	3	DOPEY1	6	83857007	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	8871	83857007	87258060	5471	9087											
ME1	4199	broad.mit.edu	37	6	83938602	83938602	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:83938602C>A	ENST00000369705.3	-	10	1191	c.1075G>T	c.(1075-1077)Gaa>Taa	p.E359*	ME1_ENST00000541327.1_Nonsense_Mutation_p.E193*|ME1_ENST00000543031.1_Nonsense_Mutation_p.E284*	NM_002395.4	NP_002386.1	P48163	MAOX_HUMAN	malic enzyme 1, NADP(+)-dependent, cytosolic	359					carbohydrate metabolic process|cellular lipid metabolic process|malate metabolic process|NADP biosynthetic process|response to carbohydrate stimulus|response to hormone stimulus	cytosol	ADP binding|electron carrier activity|malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|manganese ion binding|NAD binding|NADP binding			NS(2)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_cancers(76;1.28e-06)|Acute lymphoblastic leukemia(125;5.03e-07)|all_hematologic(105;0.000238)|all_epithelial(107;0.00218)		BRCA - Breast invasive adenocarcinoma(397;0.0641)	NADH(DB00157)	TTCATTTCTTCATGTTCATGG	0.408													45	89					4.01344e-20	5.23454e-20	1	1	0	A	83938602	C	A	83938602	4	1	81	1	0	0	0	0	0	1	0	0	9467	835	29	5	663	5	ME1	6	83938602	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	81595	83938602	87176465	5472	9088											
KIAA1009	22832	broad.mit.edu	37	6	84865090	84865090	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:84865090G>T	ENST00000403245.3	-	22	3035	c.2921C>A	c.(2920-2922)gCt>gAt	p.A974D	KIAA1009_ENST00000257766.4_Missense_Mutation_p.A898D|KIAA1009_ENST00000461137.1_5'UTR	NM_014895.2	NP_055710.2	Q5TB80	QN1_HUMAN	KIAA1009	974					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)		CTCCAGATCAGCTTCTAGCTT	0.383													16	48					6.31663e-08	7.44777e-08	1	1	0	T	84865090	G	T	84865090	3	4	81	1	0	0	0	0	1	0	0	0	8245	971	34	4	1314	4	KIAA1009	6	84865090	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	926488	84865090	86249977	5473	9089											
KIAA1009	22832	broad.mit.edu	37	6	84865120	84865120	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:84865120A>C	ENST00000403245.3	-	22	3005	c.2891T>G	c.(2890-2892)tTt>tGt	p.F964C	KIAA1009_ENST00000257766.4_Missense_Mutation_p.F888C|KIAA1009_ENST00000461137.1_5'UTR	NM_014895.2	NP_055710.2	Q5TB80	QN1_HUMAN	KIAA1009	964					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)		TTTCTCCATAAATTCCACTGT	0.388													5	61					0	0	1	0	0	C	84865120	A	C	84865120	3	2	81	1	0	0	0	0	1	0	0	0	8245	14	1	5	1344	5	KIAA1009	6	84865120	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	30	84865120	86249947	5474	9090											
SNX14	57231	broad.mit.edu	37	6	86224236	86224236	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:86224236G>T	ENST00000314673.3	-	24	2556	c.2380C>A	c.(2380-2382)Ctg>Atg	p.L794M	SNX14_ENST00000505648.1_Missense_Mutation_p.L742M|SNX14_ENST00000369627.2_Missense_Mutation_p.L785M|SNX14_ENST00000346348.3_Missense_Mutation_p.L741M|SNX14_ENST00000513865.1_Missense_Mutation_p.L513M|SNX14_ENST00000508980.1_5'UTR	NM_153816.3	NP_722523.1	Q9Y5W7	SNX14_HUMAN	sorting nexin 14	794					cell communication|protein transport	integral to membrane	phosphatidylinositol binding|signal transducer activity			NS(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(11)|skin(1)	22		all_cancers(76;4.83e-07)|Acute lymphoblastic leukemia(125;3.3e-08)|Prostate(29;2.55e-07)|all_hematologic(105;3.66e-05)|all_epithelial(107;0.000695)|Lung NSC(302;0.197)|all_lung(197;0.24)		BRCA - Breast invasive adenocarcinoma(108;0.0423)		ACATACATCAGGTAATCATAG	0.333													37	85					1.04594e-18	1.35899e-18	1	1	0	T	86224236	G	T	86224236	3	4	81	1	0	0	0	0	1	0	0	0	14939	991	35	4	484	4	SNX14	6	86224236	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1359116	86224236	84890831	5475	9091											
SNX14	57231	broad.mit.edu	37	6	86227481	86227481	+	Missense_Mutation	SNP	T	T	C	rs138417324		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:86227481T>C	ENST00000314673.3	-	23	2437	c.2261A>G	c.(2260-2262)aAc>aGc	p.N754S	SNX14_ENST00000505648.1_Missense_Mutation_p.N702S|SNX14_ENST00000369627.2_Missense_Mutation_p.N745S|SNX14_ENST00000346348.3_Missense_Mutation_p.N701S|SNX14_ENST00000513865.1_Missense_Mutation_p.N473S|SNX14_ENST00000508980.1_5'UTR	NM_153816.3	NP_722523.1	Q9Y5W7	SNX14_HUMAN	sorting nexin 14	754					cell communication|protein transport	integral to membrane	phosphatidylinositol binding|signal transducer activity			NS(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(11)|skin(1)	22		all_cancers(76;4.83e-07)|Acute lymphoblastic leukemia(125;3.3e-08)|Prostate(29;2.55e-07)|all_hematologic(105;3.66e-05)|all_epithelial(107;0.000695)|Lung NSC(302;0.197)|all_lung(197;0.24)		BRCA - Breast invasive adenocarcinoma(108;0.0423)		TACCTTCTTGTTGTTTTCTGA	0.348													40	51					0	0	1	0	0	C	86227481	T	C	86227481	3	2	81	1	0	0	0	0	1	0	0	0	14939	1725	60	3	607	3	SNX14	6	86227481	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	3245	86227481	84887586	5476	9092											
SYNCRIP	10492	broad.mit.edu	37	6	86332297	86332297	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:86332297C>T	ENST00000355238.6	-	8	1117	c.911G>A	c.(910-912)cGt>cAt	p.R304H	SYNCRIP_ENST00000369622.3_Missense_Mutation_p.R304H	NM_001159673.1|NM_001159674.1|NM_001159676.1|NM_001159677.1|NM_001253771.1	NP_001153145.1|NP_001153146.1|NP_001153148.1|NP_001153149.1|NP_001240700.1	O60506	HNRPQ_HUMAN	synaptotagmin binding, cytoplasmic RNA interacting protein	304	RRM 2.				CRD-mediated mRNA stabilization|interspecies interaction between organisms	catalytic step 2 spliceosome|CRD-mediated mRNA stability complex|endoplasmic reticulum|histone pre-mRNA 3'end processing complex|microsome|nucleoplasm	nucleotide binding|protein binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_cancers(76;0.000137)|Acute lymphoblastic leukemia(125;3.66e-08)|Prostate(29;8.2e-07)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0297)		BRCA - Breast invasive adenocarcinoma(108;0.0389)		CATTAACCTACGCCTTGCCTG	0.433													83	194					0	0	1	0	0	T	86332297	C	T	86332297	3	4	81	1	0	0	0	0	1	0	0	0	15501	536	19	1	1022	1	SYNCRIP	6	86332297	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	104816	86332297	84782770	5477	9093											
ZNF292	23036	broad.mit.edu	37	6	87943143	87943143	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:87943143G>A	ENST00000369577.3	+	5	682	c.639G>A	c.(637-639)aaG>aaA	p.K213K	ZNF292_ENST00000339907.4_Silent_p.K208K	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	213					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		CTCTAGCAAAGCTGTGTTCTG	0.358													35	58					0	0	1	0	0	A	87943143	G	A	87943143	2	1	81	1	0	0	0	0	0	0	0	1	17883	962	34	2		2	ZNF292	6	87943143	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1610846	87943143	83171924	5478	9094											
ZNF292	23036	broad.mit.edu	37	6	87966302	87966302	+	Silent	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:87966302T>G	ENST00000369577.3	+	8	2998	c.2955T>G	c.(2953-2955)ggT>ggG	p.G985G	ZNF292_ENST00000339907.4_Silent_p.G980G	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	985					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		GTCATCCAGGTTTCCAGGAGA	0.403													37	49					0	0	1	0	0	G	87966302	T	G	87966302	2	3	81	1	0	0	0	0	0	0	0	1	17883	1712	60	5		5	ZNF292	6	87966302	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	23159	87966302	83148765	5479	9095											
ZNF292	23036	broad.mit.edu	37	6	87968797	87968797	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:87968797G>A	ENST00000369577.3	+	8	5493	c.5450G>A	c.(5449-5451)aGt>aAt	p.S1817N	ZNF292_ENST00000339907.4_Missense_Mutation_p.S1812N	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	1817					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		TCCTTTATAAGTGTCATGCCA	0.323													8	13					0	0	1	0	0	A	87968797	G	A	87968797	3	1	81	1	0	0	0	0	1	0	0	0	17883	1029	36	2	5480	2	ZNF292	6	87968797	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2495	87968797	83146270	5480	9096											
ZNF292	23036	broad.mit.edu	37	6	87969868	87969868	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:87969868G>A	ENST00000369577.3	+	8	6564	c.6521G>A	c.(6520-6522)tGt>tAt	p.C2174Y	ZNF292_ENST00000339907.4_Missense_Mutation_p.C2169Y	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	2174					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		GAATTTCGATGTCAGGTAAGT	0.368													68	99					0	0	1	0	0	A	87969868	G	A	87969868	3	1	81	1	0	0	0	0	1	0	0	0	17883	1377	48	2	6551	2	ZNF292	6	87969868	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1071	87969868	83145199	5481	9097											
ZNF292	23036	broad.mit.edu	37	6	87970355	87970356	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:87970355_87970356insA	ENST00000369577.3	+	8	7051_7052	c.7008_7009insA	c.(7009-7011)aaafs	p.K2337fs	ZNF292_ENST00000339907.4_Frame_Shift_Ins_p.K2332fs	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	2337					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		CCAAACGAAAGAAAAAAAATAA	0.366													10	26	---	---	---	---						A	87970356	-	A	87970355	7	5	81	1	0	1	1	0	0	0	0	0	17883	933	33	0	7038	0	ZNF292	6	87970355	Frame_Shift_Ins	INS	-	TCGA-DU-6392-01A-11D-1705-08	487	87970355	83144712	5482	9098											
ZNF292	23036	broad.mit.edu	37	6	87970632	87970632	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:87970632C>T	ENST00000369577.3	+	8	7328	c.7285C>T	c.(7285-7287)Cgg>Tgg	p.R2429W	ZNF292_ENST00000339907.4_Missense_Mutation_p.R2424W	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	2429					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		TGTATTCAAACGGTGTTGCAA	0.348													8	13					0	0	1	0	0	T	87970632	C	T	87970632	3	4	81	1	0	0	0	0	1	0	0	0	17883	527	19	1	7315	1	ZNF292	6	87970632	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	277	87970632	83144435	5483	9099											
C6orf165	154313	broad.mit.edu	37	6	88123597	88123597	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:88123597G>A	ENST00000507897.1	+	4	345	c.262G>A	c.(262-264)Gat>Aat	p.D88N	C6ORF165_ENST00000369562.4_Missense_Mutation_p.D88N			Q8IYR0	CF165_HUMAN	chromosome 6 open reading frame 165	88								p.D88N(2)		NS(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0419)		AGTCTACTTCGATATGAATTA	0.338													4	60					0	0	1	0	0	A	88123597	G	A	88123597	3	1	81	1	0	0	0	0	1	0	0	0	2355	1058	37	1	272	1	C6orf165	6	88123597	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	152965	88123597	82991470	5484	9100											
RARS2	57038	broad.mit.edu	37	6	88229379	88229379	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:88229379T>C	ENST00000369536.5	-	14	1204	c.1159A>G	c.(1159-1161)Aga>Gga	p.R387G		NM_020320.3	NP_064716.2	Q5T160	SYRM_HUMAN	arginyl-tRNA synthetase 2, mitochondrial	387					arginyl-tRNA aminoacylation	mitochondrial matrix	arginine-tRNA ligase activity|ATP binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	22		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0456)		ACATCTCCTCTTCGAGTCTTC	0.398													4	46					0	0	1	0	0	C	88229379	T	C	88229379	3	2	81	1	0	0	0	0	1	0	0	0	13111	1617	56	3	605	3	RARS2	6	88229379	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	105782	88229379	82885688	5485	9101											
RARS2	57038	broad.mit.edu	37	6	88251665	88251665	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:88251665G>A	ENST00000369536.5	-	8	628	c.583C>T	c.(583-585)Cag>Tag	p.Q195*		NM_020320.3	NP_064716.2	Q5T160	SYRM_HUMAN	arginyl-tRNA synthetase 2, mitochondrial	195					arginyl-tRNA aminoacylation	mitochondrial matrix	arginine-tRNA ligase activity|ATP binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	22		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0456)		GGATTGGACTGCAGTTTTTCC	0.358													19	48					0	0	1	0	0	A	88251665	G	A	88251665	4	1	81	1	0	0	0	0	0	1	0	0	13111	1328	46	2	1205	2	RARS2	6	88251665	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	22286	88251665	82863402	5486	9102											
SPACA1	81833	broad.mit.edu	37	6	88763681	88763681	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:88763681G>A	ENST00000237201.1	+	2	343	c.226G>A	c.(226-228)Gtc>Atc	p.V76I		NM_030960.2	NP_112222.1	Q9HBV2	SACA1_HUMAN	sperm acrosome associated 1	76						integral to membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	20		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.11)		TAGGAATGTCGTCAAAGAAGT	0.348													5	40					0	0	1	0	0	A	88763681	G	A	88763681	3	1	81	1	0	0	0	0	1	0	0	0	15026	1145	40	1	232	1	SPACA1	6	88763681	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	512016	88763681	82351386	5487	9103											
CNR1	1268	broad.mit.edu	37	6	88853609	88853609	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:88853609G>T	ENST00000537554.1	-	2	4947	c.1385C>A	c.(1384-1386)tCt>tAt	p.S462Y	CNR1_ENST00000369499.2_Missense_Mutation_p.S462Y|CNR1_ENST00000362094.5_3'UTR|CNR1_ENST00000468898.1_Missense_Mutation_p.S429Y|CNR1_ENST00000549716.1_Missense_Mutation_p.S401Y|CNR1_ENST00000535130.1_Missense_Mutation_p.S462Y|CNR1_ENST00000549890.1_Missense_Mutation_p.S462Y|CNR1_ENST00000369501.2_Missense_Mutation_p.S462Y|CNR1_ENST00000428600.2_Missense_Mutation_p.S462Y	NM_001160226.1|NM_001160258.1	NP_001153698.1|NP_001153730.1	P21554	CNR1_HUMAN	cannabinoid receptor 1 (brain)	462					G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	cannabinoid receptor activity|protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(10)|urinary_tract(1)	37		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.15)	Marinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155)	TGTGGACACAGACATGGTTAC	0.502													96	182					1.90054e-66	2.5612e-66	1	1	0	T	88853609	G	T	88853609	3	4	81	1	0	0	0	0	1	0	0	0	3654	942	33	4	37	4	CNR1	6	88853609	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	89928	88853609	82261458	5488	9104											
PM20D2	135293	broad.mit.edu	37	6	89859062	89859062	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:89859062C>A	ENST00000275072.4	+	2	639	c.544C>A	c.(544-546)Ctt>Att	p.L182I		NM_001010853.1	NP_001010853.1	Q8IYS1	P20D2_HUMAN	peptidase M20 domain containing 2	182							hydrolase activity			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(2)|skin(1)	12		all_cancers(76;9.47e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)		BRCA - Breast invasive adenocarcinoma(108;0.00813)		TTTTACAAATCTTGATGTTGT	0.403													16	139					2.23348e-06	2.55658e-06	1	1	0	A	89859062	C	A	89859062	3	1	81	1	0	0	0	0	1	0	0	0	12177	913	32	4	550	4	PM20D2	6	89859062	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1005453	89859062	81256005	5489	9105											
PM20D2	135293	broad.mit.edu	37	6	89862821	89862821	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:89862821T>C	ENST00000275072.4	+	3	769	c.674T>C	c.(673-675)tTa>tCa	p.L225S		NM_001010853.1	NP_001010853.1	Q8IYS1	P20D2_HUMAN	peptidase M20 domain containing 2	225							hydrolase activity			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(2)|skin(1)	12		all_cancers(76;9.47e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)		BRCA - Breast invasive adenocarcinoma(108;0.00813)		TGGGAAGGATTAAATGCATTA	0.358													5	74					0	0	1	0	0	C	89862821	T	C	89862821	3	2	81	1	0	0	0	0	1	0	0	0	12177	1764	61	3	684	3	PM20D2	6	89862821	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	3759	89862821	81252246	5490	9106											
GABRR1	2569	broad.mit.edu	37	6	89891699	89891699	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:89891699C>T	ENST00000435811.1	-	7	1277	c.823G>A	c.(823-825)Gct>Act	p.A275T	GABRR1_ENST00000369451.3_Missense_Mutation_p.A205T|GABRR1_ENST00000454853.2_Missense_Mutation_p.A292T	NM_001256703.1	NP_001243632.1	P24046	GBRR1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 1	292					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	p.A286T(3)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(7)|lung(16)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	35		all_cancers(76;9.49e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.46e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)		BRCA - Breast invasive adenocarcinoma(108;0.00917)	Picrotoxin(DB00466)	ATCAGGGTAGCGGGGAAATAA	0.507													31	49					0	0	1	0	0	T	89891699	C	T	89891699	3	4	81	1	0	0	0	0	1	0	0	0	6211	768	27	1	577	1	GABRR1	6	89891699	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	28878	89891699	81223368	5491	9107											
GABRR1	2569	broad.mit.edu	37	6	89899961	89899961	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:89899961G>A	ENST00000435811.1	-	5	981	c.527C>T	c.(526-528)aCa>aTa	p.T176I	GABRR1_ENST00000369451.3_Missense_Mutation_p.T106I|GABRR1_ENST00000454853.2_Missense_Mutation_p.T193I	NM_001256703.1	NP_001243632.1	P24046	GBRR1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 1	193					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(7)|lung(16)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	35		all_cancers(76;9.49e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.46e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)		BRCA - Breast invasive adenocarcinoma(108;0.00917)	Picrotoxin(DB00466)	TGCAGTTACTGTAACCCTAGG	0.438													7	51					0	0	1	0	0	A	89899961	G	A	89899961	3	1	81	1	0	0	0	0	1	0	0	0	6211	1377	48	2	881	2	GABRR1	6	89899961	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	8262	89899961	81215106	5492	9108											
GABRR2	2570	broad.mit.edu	37	6	89977468	89977468	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:89977468C>T	ENST00000402938.3	-	6	799	c.666G>A	c.(664-666)aaG>aaA	p.K222K	GABRR2_ENST00000602399.1_Silent_p.K247K	NM_002043.3	NP_002034.3	P28476	GBRR2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 2	247					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(10)|prostate(2)|urinary_tract(1)	21		all_cancers(76;1.67e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.77e-07)|all_epithelial(107;2.51e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0158)		ACAAGGAGATCTTCTCATCTG	0.403													27	68					0	0	1	0	0	T	89977468	C	T	89977468	2	4	81	1	0	0	0	0	0	0	0	1	6212	912	32	2		2	GABRR2	6	89977468	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	77507	89977468	81137599	5493	9109											
ANKRD6	22881	broad.mit.edu	37	6	90340257	90340257	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:90340257G>A	ENST00000369408.5	+	15	1962	c.1613G>A	c.(1612-1614)aGa>aAa	p.R538K	ANKRD6_ENST00000522441.1_Missense_Mutation_p.R573K|ANKRD6_ENST00000520793.1_Missense_Mutation_p.R509K|ANKRD6_ENST00000339746.4_Missense_Mutation_p.R573K|ANKRD6_ENST00000447838.2_Missense_Mutation_p.R568K|LYRM2_ENST00000520441.1_Intron	NM_001242813.1	NP_001229742.1	Q9Y2G4	ANKR6_HUMAN	ankyrin repeat domain 6	573							protein binding			NS(1)|endometrium(3)|large_intestine(7)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|stomach(2)	21		all_cancers(76;1.22e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;1.83e-05)|Lung NSC(302;0.239)		BRCA - Breast invasive adenocarcinoma(108;0.0209)		GCTACCCAGAGACTCCAGCAG	0.567													9	17					0	0	1	0	0	A	90340257	G	A	90340257	3	1	81	1	0	0	0	0	1	0	0	0	679	942	33	2	1761	2	ANKRD6	6	90340257	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	362789	90340257	80774810	5494	9110											
MDN1	23195	broad.mit.edu	37	6	90384300	90384300	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:90384300A>C	ENST00000369393.3	-	79	12885	c.12770T>G	c.(12769-12771)cTc>cGc	p.L4257R	RP1-122O8.7_ENST00000438877.1_RNA|MDN1_ENST00000428876.1_Missense_Mutation_p.L4257R			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	4257					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		CACACAGCTGAGGAGGTTCCT	0.512													6	31					0	0	1	0	0	C	90384300	A	C	90384300	3	2	81	1	0	0	0	0	1	0	0	0	9465	304	11	5	4116	5	MDN1	6	90384300	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	44043	90384300	80730767	5495	9111											
MDN1	23195	broad.mit.edu	37	6	90394655	90394655	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:90394655G>T	ENST00000369393.3	-	71	11884	c.11769C>A	c.(11767-11769)ttC>ttA	p.F3923L	MDN1_ENST00000428876.1_Missense_Mutation_p.F3923L			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	3923					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		CCCGGTCAAAGAATTGCTTGT	0.403													19	22					1.01871e-10	1.25121e-10	1	1	0	T	90394655	G	T	90394655	3	4	81	1	0	0	0	0	1	0	0	0	9465	933	33	4	5149	4	MDN1	6	90394655	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	10355	90394655	80720412	5496	9112											
MDN1	23195	broad.mit.edu	37	6	90428292	90428292	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:90428292T>C	ENST00000369393.3	-	43	6491	c.6376A>G	c.(6376-6378)Agg>Ggg	p.R2126G	MDN1_ENST00000428876.1_Missense_Mutation_p.R2126G			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	2126					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		AACAGTGCCCTTACAGTTCCC	0.463													19	46					0	0	1	0	0	C	90428292	T	C	90428292	3	2	81	1	0	0	0	0	1	0	0	0	9465	1608	56	3	10654	3	MDN1	6	90428292	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	33637	90428292	80686775	5497	9113											
MDN1	23195	broad.mit.edu	37	6	90460196	90460196	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:90460196G>T	ENST00000369393.3	-	24	3398	c.3283C>A	c.(3283-3285)Cag>Aag	p.Q1095K	MDN1_ENST00000428876.1_Missense_Mutation_p.Q1095K			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	1095					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		GCCAGCCACTGGATCAGGCTT	0.423													32	260					2.87052e-16	3.68187e-16	1	1	0	T	90460196	G	T	90460196	3	4	81	1	0	0	0	0	1	0	0	0	9465	1357	47	5	13823	5	MDN1	6	90460196	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	31904	90460196	80654871	5498	9114											
MDN1	23195	broad.mit.edu	37	6	90468059	90468059	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:90468059G>A	ENST00000369393.3	-	19	2732	c.2617C>T	c.(2617-2619)Cgg>Tgg	p.R873W	MDN1_ENST00000428876.1_Missense_Mutation_p.R873W			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	873					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		TCAGGATGCCGAACCAGTGGC	0.453													6	8					0	0	1	0	0	A	90468059	G	A	90468059	3	1	81	1	0	0	0	0	1	0	0	0	9465	1057	37	1	14509	1	MDN1	6	90468059	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	7863	90468059	80647008	5499	9115											
MDN1	23195	broad.mit.edu	37	6	90513145	90513145	+	Silent	SNP	G	G	A	rs147300618	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:90513145G>A	ENST00000369393.3	-	2	346	c.231C>T	c.(229-231)gcC>gcT	p.A77A	MDN1_ENST00000428876.1_Silent_p.A77A			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	77					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		TAATGGCTTCGGCATTCCTTT	0.493													50	73					0	0	1	0	0	A	90513145	G	A	90513145	2	1	81	1	0	0	0	0	0	0	0	1	9465	1103	39	1		1	MDN1	6	90513145	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	45086	90513145	80601922	5500	9116											
CASP8AP2	9994	broad.mit.edu	37	6	90573337	90573337	+	RNA	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:90573337G>A	ENST00000551025.1	+	0	3346							Q9UKL3	C8AP2_HUMAN	caspase 8 associated protein 2						cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasm|nucleus	caspase activator activity|death receptor binding|transcription corepressor activity			NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2)	51		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0953)		ACCAAAGGTTGCTCTTCTAGC	0.438													11	12					0	0	1	0	0	A	90573337	G	A	90573337	1	1	81	0	1	0	0	0	0	0	0	0	2696	1319	46	2		2	CASP8AP2	6	90573337	RNA	SNP	G	TCGA-DU-6392-01A-11D-1705-08	60192	90573337	80541730	5501	9117											
GJA10	84694	broad.mit.edu	37	6	90605392	90605392	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:90605392T>C	ENST00000369352.1	+	1	1205	c.1205T>C	c.(1204-1206)cTt>cCt	p.L402P		NM_032602.1	NP_115991.1	Q969M2	CXA10_HUMAN	gap junction protein, alpha 10, 62kDa	402					synaptic transmission	connexon complex|integral to membrane	gap junction channel activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|skin(3)|urinary_tract(1)	37		all_cancers(76;5.71e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527)		BRCA - Breast invasive adenocarcinoma(108;0.0915)		CTCACAGATCTTCATAGTCAC	0.547													6	40					0	0	1	0	0	C	90605392	T	C	90605392	3	2	81	1	0	0	0	0	1	0	0	0	6443	1609	56	3	1207	3	GJA10	6	90605392	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	32055	90605392	80509675	5502	9118											
BACH2	60468	broad.mit.edu	37	6	90648063	90648063	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:90648063G>A	ENST00000257749.4	-	8	2550	c.1843C>T	c.(1843-1845)Ctt>Ttt	p.L615F	BACH2_ENST00000537989.1_Missense_Mutation_p.L615F|BACH2_ENST00000343122.3_Missense_Mutation_p.L615F	NM_021813.2	NP_068585.1	Q9BYV9	BACH2_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 2	615						nucleus	protein dimerization activity|sequence-specific DNA binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	45		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)		GGAAAAGGAAGTTTTACCTGA	0.353													22	30					0	0	1	0	0	A	90648063	G	A	90648063	3	1	81	1	0	0	0	0	1	0	0	0	1282	1029	36	2	690	2	BACH2	6	90648063	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	42671	90648063	80467004	5503	9119											
BACH2	60468	broad.mit.edu	37	6	90660619	90660619	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:90660619C>T	ENST00000257749.4	-	7	1913	c.1206G>A	c.(1204-1206)gtG>gtA	p.V402V	RP3-512E2.2_ENST00000413986.1_RNA|BACH2_ENST00000537989.1_Silent_p.V402V|RP3-512E2.2_ENST00000445838.1_RNA|BACH2_ENST00000343122.3_Silent_p.V402V	NM_021813.2	NP_068585.1	Q9BYV9	BACH2_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 2	402						nucleus	protein dimerization activity|sequence-specific DNA binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	45		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)		TGAAGTTGGACACCTCCTTCT	0.582													16	24					0	0	1	0	0	T	90660619	C	T	90660619	2	4	81	1	0	0	0	0	0	0	0	1	1282	465	17	2		2	BACH2	6	90660619	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	12556	90660619	80454448	5504	9120											
MAP3K7	6885	broad.mit.edu	37	6	91263201	91263201	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:91263201G>T	ENST00000369329.3	-	7	873	c.712C>A	c.(712-714)Cga>Aga	p.R238R	MAP3K7_ENST00000369327.3_Silent_p.R238R|MAP3K7_ENST00000369332.3_Silent_p.R238R|MAP3K7_ENST00000369325.3_Silent_p.R238R	NM_145331.2	NP_663304.1	O43318	M3K7_HUMAN	mitogen-activated protein kinase kinase kinase 7	238	Protein kinase.				activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|histone H3 acetylation|I-kappaB phosphorylation|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transforming growth factor beta receptor signaling pathway	Ada2/Gcn5/Ada3 transcription activator complex|cytosol|endosome membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	28		all_cancers(76;6.4e-08)|Acute lymphoblastic leukemia(125;1.43e-09)|Prostate(29;9.32e-09)|all_hematologic(105;3.69e-06)|all_epithelial(107;0.000187)|Ovarian(999;0.0164)		OV - Ovarian serous cystadenocarcinoma(136;2.05e-11)|all cancers(137;3.25e-11)|GBM - Glioblastoma multiforme(226;0.0416)|BRCA - Breast invasive adenocarcinoma(108;0.0429)		CACATGATTCGGAAAGCTGGG	0.403													5	107					4.096e-09	4.9227e-09	1	1	0	T	91263201	G	T	91263201	2	4	81	1	0	0	0	0	0	0	0	1	9305	1124	39	5		5	MAP3K7	6	91263201	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	602582	91263201	79851866	5505	9121											
EPHA7	2045	broad.mit.edu	37	6	93953252	93953252	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:93953252C>T	ENST00000369303.4	-	17	3073	c.2889G>A	c.(2887-2889)gtG>gtA	p.V963V		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	963	SAM.					integral to plasma membrane	ATP binding|ephrin receptor activity	p.V963V(1)		NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		CTAAACTCATCACATCCCTGA	0.353													33	56					0	0	1	0	0	T	93953252	C	T	93953252	2	4	81	1	0	0	0	0	0	0	0	1	5200	813	29	2		2	EPHA7	6	93953252	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2690051	93953252	77161815	5506	9122											
EPHA7	2045	broad.mit.edu	37	6	93982040	93982040	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:93982040T>G	ENST00000369303.4	-	6	1609	c.1425A>C	c.(1423-1425)gaA>gaC	p.E475D		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	475	Fibronectin type-III 2.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		TGATTTCATATTCTGTGATGA	0.443													13	118					0	0	1	0	0	G	93982040	T	G	93982040	3	3	81	1	0	0	0	0	1	0	0	0	5200	1490	52	4	1619	4	EPHA7	6	93982040	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	28788	93982040	77133027	5507	9123											
EPHA7	2045	broad.mit.edu	37	6	94120584	94120584	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:94120584G>A	ENST00000369303.4	-	3	651	c.467C>T	c.(466-468)aCc>aTc	p.T156I	EPHA7_ENST00000369297.1_Missense_Mutation_p.T156I	NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	156						integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		GTCACCTTGGGTAAAACTTTC	0.373													40	67					0	0	1	0	0	A	94120584	G	A	94120584	3	1	81	1	0	0	0	0	1	0	0	0	5200	1261	44	2	2589	2	EPHA7	6	94120584	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	138544	94120584	76994483	5508	9124											
EPHA7	2045	broad.mit.edu	37	6	94120851	94120851	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:94120851G>A	ENST00000369303.4	-	3	384	c.200C>T	c.(199-201)cCg>cTg	p.P67L	EPHA7_ENST00000369297.1_Missense_Mutation_p.P67L	NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	67						integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		TGTTCGTATCGGGGTATAGTT	0.393													7	120					0	0	1	0	0	A	94120851	G	A	94120851	3	1	81	1	0	0	0	0	1	0	0	0	5200	1116	39	1	2856	1	EPHA7	6	94120851	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	267	94120851	76994216	5509	9125											
FUT9	10690	broad.mit.edu	37	6	96651394	96651394	+	Silent	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:96651394T>A	ENST00000302103.5	+	3	689	c.363T>A	c.(361-363)ccT>ccA	p.P121P		NM_006581.3	NP_006572.2	Q9Y231	FUT9_HUMAN	fucosyltransferase 9 (alpha (1,3) fucosyltransferase)	121					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	34		all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356)		BRCA - Breast invasive adenocarcinoma(108;0.08)		CAAATTTACCTCAGCAAGCTA	0.463													8	41					0	0	1	0	0	A	96651394	T	A	96651394	2	1	81	1	0	0	0	0	0	0	0	1	6146	1538	54	5		5	FUT9	6	96651394	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	2530543	96651394	74463673	5510	9126											
GPR63	81491	broad.mit.edu	37	6	97247454	97247454	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:97247454C>T	ENST00000229955.3	-	2	499	c.154G>A	c.(154-156)Gct>Act	p.A52T	GPR63_ENST00000417980.1_Missense_Mutation_p.A52T	NM_001143957.2|NM_030784.3	NP_001137429.1|NP_110411.1	Q9BZJ6	GPR63_HUMAN	G protein-coupled receptor 63	52						integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			kidney(1)|large_intestine(5)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(76;6.89e-05)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.0618)|Colorectal(196;0.0721)		BRCA - Breast invasive adenocarcinoma(108;0.0912)		CCAGTGGGAGCCATGGTTTCA	0.448													11	35					0	0	1	0	0	T	97247454	C	T	97247454	3	4	81	1	0	0	0	0	1	0	0	0	6744	739	26	2	1109	2	GPR63	6	97247454	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	596060	97247454	73867613	5511	9127											
NDUFAF4	29078	broad.mit.edu	37	6	97339264	97339264	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:97339264T>C	ENST00000316149.7	-	3	323	c.244A>G	c.(244-246)Aaa>Gaa	p.K82E	NDUFAF4_ENST00000489477.1_5'UTR	NM_014165.3	NP_054884.1	Q9P032	NDUF4_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 4	82					mitochondrial respiratory chain complex I assembly	mitochondrial membrane	calmodulin binding			large_intestine(5)|lung(3)|ovary(1)|skin(1)	10						TCAGCAGCTTTTACCTAGTAT	0.328													12	63					0	0	1	0	0	C	97339264	T	C	97339264	3	2	81	1	0	0	0	0	1	0	0	0	10324	1850	64	3	287	3	NDUFAF4	6	97339264	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	91810	97339264	73775803	5512	9128											
CCNC	892	broad.mit.edu	37	6	100009529	100009529	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:100009529T>C	ENST00000520429.1	-	3	613	c.168A>G	c.(166-168)aaA>aaG	p.K56K	CCNC_ENST00000523799.1_5'UTR|CCNC_ENST00000482541.2_Silent_p.K56K|CCNC_ENST00000523985.1_5'UTR|CCNC_ENST00000369220.4_Silent_p.K56K|CCNC_ENST00000521017.1_5'UTR|CCNC_ENST00000520371.1_Silent_p.K56K|CCNC_ENST00000518714.1_Silent_p.K56K	NM_001013399.1|NM_005190.3	NP_001013417.1|NP_005181.2	P24863	CCNC_HUMAN	cyclin C	56	Cyclin N-terminal.				regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	DNA-directed RNA polymerase II, holoenzyme	protein kinase binding						all_cancers(76;8.46e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0128)|Colorectal(196;0.069)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.064)		GTTGTCTTAATTTAAGATGTT	0.274													8	77					0	0	1	0	0	C	100009529	T	C	100009529	2	2	81	1	0	0	0	0	0	0	0	1	2937	1490	52	3		3	CCNC	6	100009529	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	2670265	100009529	71105538	5513	9129											
SIM1	6492	broad.mit.edu	37	6	100841366	100841366	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:100841366G>T	ENST00000369208.3	-	11	2349	c.1567C>A	c.(1567-1569)Cat>Aat	p.H523N	SIM1_ENST00000262901.4_Missense_Mutation_p.H523N			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	523	Single-minded C-terminal.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		CTCTTACCATGGATCCTGTGG	0.522													5	72					0.00307968	0.00324365	1	1	0	T	100841366	G	T	100841366	3	4	81	1	0	0	0	0	1	0	0	0	14378	1348	47	5	741	5	SIM1	6	100841366	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	831837	100841366	70273701	5514	9130											
SIM1	6492	broad.mit.edu	37	6	100841384	100841384	+	Missense_Mutation	SNP	C	C	T	rs141685162		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:100841384C>T	ENST00000369208.3	-	11	2331	c.1549G>A	c.(1549-1551)Gct>Act	p.A517T	SIM1_ENST00000262901.4_Missense_Mutation_p.A517T			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	517	Single-minded C-terminal.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		TGGACTGAAGCGATGTGAGGC	0.572													32	51					0	0	1	0	0	T	100841384	C	T	100841384	3	4	81	1	0	0	0	0	1	0	0	0	14378	768	27	1	759	1	SIM1	6	100841384	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	18	100841384	70273683	5515	9131											
ASCC3	10973	broad.mit.edu	37	6	101086606	101086606	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:101086606C>A	ENST00000369162.2	-	25	4337	c.3993G>T	c.(3991-3993)caG>caT	p.Q1331H		NM_006828.2	NP_006819.2	Q8N3C0	HELC1_HUMAN	activating signal cointegrator 1 complex subunit 3	1331					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		ATATTTGTGTCTGTACAGGGT	0.408													8	178					1.12685e-05	1.27052e-05	1	1	0	A	101086606	C	A	101086606	3	1	81	1	0	0	0	0	1	0	0	0	1032	912	32	4	2687	4	ASCC3	6	101086606	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	245222	101086606	70028461	5516	9132											
ASCC3	10973	broad.mit.edu	37	6	101247437	101247437	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:101247437A>C	ENST00000369162.2	-	7	1483	c.1139T>G	c.(1138-1140)cTt>cGt	p.L380R	ASCC3_ENST00000522650.1_Missense_Mutation_p.L380R	NM_006828.2	NP_006819.2	Q8N3C0	HELC1_HUMAN	activating signal cointegrator 1 complex subunit 3	380					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		AGCATTCAGAAGTGCCTGTTC	0.378													4	44					0	0	1	0	0	C	101247437	A	C	101247437	3	2	81	1	0	0	0	0	1	0	0	0	1032	72	3	5	5613	5	ASCC3	6	101247437	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	160831	101247437	69867630	5517	9133											
ASCC3	10973	broad.mit.edu	37	6	101296419	101296419	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:101296419G>A	ENST00000369162.2	-	4	750	c.406C>T	c.(406-408)Cga>Tga	p.R136*	ASCC3_ENST00000522650.1_Nonsense_Mutation_p.R136*	NM_006828.2	NP_006819.2	Q8N3C0	HELC1_HUMAN	activating signal cointegrator 1 complex subunit 3	136					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		GAAATAATTCGATTAGTAGCA	0.383													5	65					0	0	1	0	0	A	101296419	G	A	101296419	4	1	81	1	0	0	0	0	0	1	0	0	1032	1066	37	1	6358	1	ASCC3	6	101296419	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	48982	101296419	69818648	5518	9134											
HACE1	57531	broad.mit.edu	37	6	105244881	105244881	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:105244881C>A	ENST00000262903.4	-	8	913	c.637G>T	c.(637-639)Gca>Tca	p.A213S	HACE1_ENST00000369125.2_Missense_Mutation_p.A213S	NM_020771.3	NP_065822.2	Q8IYU2	HACE1_HUMAN	HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1	213					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	endoplasmic reticulum	ubiquitin-protein ligase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	44		all_cancers(87;6.89e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0216)|Colorectal(196;0.202)		BRCA - Breast invasive adenocarcinoma(108;0.122)|Epithelial(106;0.204)		AGGATCTGTGCTGTATCTCTC	0.333													14	48					1.49906e-05	1.6816e-05	1	1	0	A	105244881	C	A	105244881	3	1	81	1	0	0	0	0	1	0	0	0	6981	797	28	4	2160	4	HACE1	6	105244881	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3948462	105244881	65870186	5519	9135											
HACE1	57531	broad.mit.edu	37	6	105291136	105291136	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:105291136C>T	ENST00000262903.4	-	5	640	c.364G>A	c.(364-366)Gct>Act	p.A122T	RP11-809N15.2_ENST00000422930.2_RNA|HACE1_ENST00000369125.2_Missense_Mutation_p.A122T	NM_020771.3	NP_065822.2	Q8IYU2	HACE1_HUMAN	HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1	122					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	endoplasmic reticulum	ubiquitin-protein ligase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	44		all_cancers(87;6.89e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0216)|Colorectal(196;0.202)		BRCA - Breast invasive adenocarcinoma(108;0.122)|Epithelial(106;0.204)		TTGACATCAGCGCTATATTCT	0.279													32	98					0	0	1	0	0	T	105291136	C	T	105291136	3	4	81	1	0	0	0	0	1	0	0	0	6981	768	27	1	2445	1	HACE1	6	105291136	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	46255	105291136	65823931	5520	9136											
POPDC3	64208	broad.mit.edu	37	6	105607695	105607695	+	Splice_Site	SNP	C	C	A	rs113419658		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:105607695C>A	ENST00000254765.3	-	3	764		c.e3-1		BVES-AS1_ENST00000580511.1_RNA|BVES-AS1_ENST00000580854.1_RNA|POPDC3_ENST00000474760.1_Splice_Site|BVES-AS1_ENST00000369122.3_RNA	NM_022361.4	NP_071756.2	Q9HBV1	POPD3_HUMAN	popeye domain containing 3							integral to membrane				NS(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(3)|urinary_tract(1)	26		all_cancers(87;4.87e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0157)|Colorectal(196;0.202)|Lung NSC(302;0.238)				CACTCTGATCCTATCAAAACA	0.463													16	20					0.00316338	0.00333123	1	1	0	A	105607695	C	A	105607695	5	1	81	1	0	0	0	0	0	0	1	0	12304	695	24	4	398	4	POPDC3	6	105607695	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	316559	105607695	65507372	5521	9137											
POPDC3	64208	broad.mit.edu	37	6	105609839	105609839	+	Translation_Start_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:105609839G>T	ENST00000254765.3	-	0	224				BVES-AS1_ENST00000580511.1_RNA|BVES-AS1_ENST00000580854.1_RNA|POPDC3_ENST00000474760.1_5'UTR|BVES-AS1_ENST00000369122.3_RNA	NM_022361.4	NP_071756.2	Q9HBV1	POPD3_HUMAN	popeye domain containing 3							integral to membrane				NS(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(3)|urinary_tract(1)	26		all_cancers(87;4.87e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0157)|Colorectal(196;0.202)|Lung NSC(302;0.238)				CACTGAAACAGGTAACTAAGT	0.403													20	34					1.15919e-05	1.30633e-05	1	1	0	T	105609839	G	T	105609839	1	4	81	1	0	0	0	0	0	0	0	0	12304	1015	35	4		4	POPDC3	6	105609839	Translation_Start_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2144	105609839	65505228	5522	9138											
PREP	5550	broad.mit.edu	37	6	105771585	105771585	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:105771585C>A	ENST00000369110.3	-	10	1464	c.1272G>T	c.(1270-1272)gaG>gaT	p.E424D		NM_002726.4	NP_002717.3	P48147	PPCE_HUMAN	prolyl endopeptidase	424					proteolysis		serine-type endopeptidase activity			breast(1)|endometrium(2)|large_intestine(7)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		all_cancers(87;0.000128)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0344)|Lung NSC(302;0.191)|Colorectal(196;0.202)			Oxytocin(DB00107)	TTACGGTCACCTCTCGGAAAA	0.418													7	122					0.248553	0.249876	1	1	0	A	105771585	C	A	105771585	3	1	81	1	0	0	0	0	1	0	0	0	12526	680	24	4	884	4	PREP	6	105771585	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	161746	105771585	65343482	5523	9139											
PREP	5550	broad.mit.edu	37	6	105800935	105800935	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:105800935G>T	ENST00000369110.3	-	7	927	c.735C>A	c.(733-735)cgC>cgA	p.R245R		NM_002726.4	NP_002717.3	P48147	PPCE_HUMAN	prolyl endopeptidase	245				R -> C (in Ref. 2; BAA04661).	proteolysis		serine-type endopeptidase activity			breast(1)|endometrium(2)|large_intestine(7)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		all_cancers(87;0.000128)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0344)|Lung NSC(302;0.191)|Colorectal(196;0.202)			Oxytocin(DB00107)	ACAAGACATAGCGGCCATCAT	0.353													9	116					3.09899e-07	3.60815e-07	1	1	0	T	105800935	G	T	105800935	2	4	81	1	0	0	0	0	0	0	0	1	12526	958	34	4		4	PREP	6	105800935	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	29350	105800935	65314132	5524	9140											
PRDM1	639	broad.mit.edu	37	6	106554794	106554794	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:106554794C>T	ENST00000369096.4	+	7	2145	c.1911C>T	c.(1909-1911)caC>caT	p.H637H	PRDM1_ENST00000369089.3_Silent_p.H503H|PRDM1_ENST00000369091.2_Silent_p.H601H	NM_001198.3	NP_001189.2	O75626	PRDM1_HUMAN	PR domain containing 1, with ZNF domain	637					negative regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(59)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(5)|urinary_tract(2)	94	Breast(9;0.022)	all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365)		all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05)		AGGTCTGCCACAAGAGATTTA	0.547			"D, N, Mis, F, S"		DLBCL								9	78					0	0	1	0	0	T	106554794	C	T	106554794	2	4	81	1	0	0	0	0	0	0	0	1	12502	477	17	2		2	PRDM1	6	106554794	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	753859	106554794	64560273	5525	9141											
AIM1	202	broad.mit.edu	37	6	106968990	106968990	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:106968990C>A	ENST00000369066.3	+	2	3170	c.2683C>A	c.(2683-2685)Ctt>Att	p.L895I		NM_001624.2	NP_001615	Q9Y4K1	AIM1_HUMAN	absent in melanoma 1	895							sugar binding			breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		ACAGTCAAATCTTCTGCCCGA	0.463													33	63					1.56738e-10	1.9247e-10	1	1	0	A	106968990	C	A	106968990	3	1	81	1	0	0	0	0	1	0	0	0	427	913	32	4	2689	4	AIM1	6	106968990	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	414196	106968990	64146077	5526	9142											
AIM1	202	broad.mit.edu	37	6	106969007	106969007	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:106969007C>A	ENST00000369066.3	+	2	3187	c.2700C>A	c.(2698-2700)tcC>tcA	p.S900S		NM_001624.2	NP_001615	Q9Y4K1	AIM1_HUMAN	absent in melanoma 1	900							sugar binding			breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		CCGACAACTCCTTAAAGGTCT	0.463													6	113					0.0293803	0.0300537	1	1	0	A	106969007	C	A	106969007	2	1	81	1	0	0	0	0	0	0	0	1	427	668	24	4		4	AIM1	6	106969007	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	17	106969007	64146060	5527	9143											
AIM1	202	broad.mit.edu	37	6	106969187	106969187	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:106969187A>G	ENST00000369066.3	+	2	3367	c.2880A>G	c.(2878-2880)gaA>gaG	p.E960E		NM_001624.2	NP_001615	Q9Y4K1	AIM1_HUMAN	absent in melanoma 1	960							sugar binding			breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		ATGATATGGAAAAGGCTAATC	0.363													5	62					0	0	1	0	0	G	106969187	A	G	106969187	2	3	81	1	0	0	0	0	0	0	0	1	427	11	1	3		3	AIM1	6	106969187	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	180	106969187	64145880	5528	9144											
AIM1	202	broad.mit.edu	37	6	106978132	106978132	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:106978132G>T	ENST00000369066.3	+	6	3923	c.3436G>T	c.(3436-3438)Gaa>Taa	p.E1146*		NM_001624.2	NP_001615	Q9Y4K1	AIM1_HUMAN	absent in melanoma 1	1146	Beta/gamma crystallin 'Greek key' 3.						sugar binding			breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		TGATACTGAAGAAATGCAGGG	0.328													8	121					0.00621372	0.00649472	1	1	0	T	106978132	G	T	106978132	4	4	81	1	0	0	0	0	0	1	0	0	427	943	33	4	3458	4	AIM1	6	106978132	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	8945	106978132	64136935	5529	9145											
AIM1	202	broad.mit.edu	37	6	107000063	107000063	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:107000063C>A	ENST00000369066.3	+	13	4707	c.4220C>A	c.(4219-4221)tCt>tAt	p.S1407Y	AIM1_ENST00000535438.1_Missense_Mutation_p.S226Y|AIM1_ENST00000487681.1_3'UTR	NM_001624.2	NP_001615	Q9Y4K1	AIM1_HUMAN	absent in melanoma 1	1407							sugar binding			breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		TTTTAGGATTCTTTCACTGGC	0.279													3	19					6.4e-05	7.07494e-05	1	1	0	A	107000063	C	A	107000063	3	1	81	1	0	0	0	0	1	0	0	0	427	913	32	4	4270	4	AIM1	6	107000063	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	21931	107000063	64115004	5530	9146											
QRSL1	55278	broad.mit.edu	37	6	107113856	107113856	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:107113856C>A	ENST00000369046.4	+	11	1670	c.1566C>A	c.(1564-1566)gcC>gcA	p.A522A		NM_018292.4	NP_060762.3	Q9H0R6	QRSL1_HUMAN	glutaminyl-tRNA synthase (glutamine-hydrolyzing)-like 1	522					translation		ATP binding|carbon-nitrogen ligase activity, with glutamine as amido-N-donor			endometrium(2)|kidney(1)|large_intestine(4)|lung(4)	11	Breast(9;0.0107)|all_epithelial(6;0.14)	all_cancers(87;0.00768)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.248)	Epithelial(6;0.000334)|all cancers(7;0.00157)|BRCA - Breast invasive adenocarcinoma(8;0.00721)|OV - Ovarian serous cystadenocarcinoma(5;0.0152)	BRCA - Breast invasive adenocarcinoma(108;0.118)|all cancers(137;0.167)|Epithelial(106;0.176)		AAAAGTTAGCCTCTGTCTCTC	0.393													15	26					5.01169e-05	5.55051e-05	1	1	0	A	107113856	C	A	107113856	2	1	81	1	0	0	0	0	0	0	0	1	12933	668	24	4		4	QRSL1	6	107113856	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	113793	107113856	64001211	5531	9147											
C6orf203	51250	broad.mit.edu	37	6	107372330	107372330	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:107372330C>T	ENST00000443043.1	+	5	1303	c.628C>T	c.(628-630)Cgg>Tgg	p.R210W	C6orf203_ENST00000405204.2_Missense_Mutation_p.R205W|C6orf203_ENST00000311381.5_Missense_Mutation_p.R205W	NM_001142470.1	NP_001135942.1	Q9P0P8	CF203_HUMAN	chromosome 6 open reading frame 203	205										large_intestine(4)|lung(2)|prostate(1)|urinary_tract(1)	8	Breast(9;0.00124)|all_epithelial(6;0.0729)	all_cancers(87;0.00461)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|Colorectal(196;0.171)|all_epithelial(87;0.23)	BRCA - Breast invasive adenocarcinoma(8;0.000395)|all cancers(7;0.00065)|Epithelial(6;0.000834)|OV - Ovarian serous cystadenocarcinoma(5;0.244)	BRCA - Breast invasive adenocarcinoma(108;0.117)		GACAGTTATGCGGATTCTCTT	0.383													42	53					0	0	1	0	0	T	107372330	C	T	107372330	3	4	81	1	0	0	0	0	1	0	0	0	2366	759	27	1	642	1	C6orf203	6	107372330	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	258474	107372330	63742737	5532	9148											
BEND3	57673	broad.mit.edu	37	6	107390158	107390158	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:107390158C>T	ENST00000429433.2	-	5	2886	c.2237G>A	c.(2236-2238)cGc>cAc	p.R746H	BEND3_ENST00000369042.1_Missense_Mutation_p.R746H	NM_001080450.2	NP_001073919.1	Q5T5X7	BEND3_HUMAN	BEN domain containing 3	746	BEN 4.									central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(7)|lung(10)|ovary(4)|prostate(3)	30						GGGAAACAGGCGGACGAGGAG	0.632													21	32					0	0	1	0	0	T	107390158	C	T	107390158	3	4	81	1	0	0	0	0	1	0	0	0	1397	768	27	1	253	1	BEND3	6	107390158	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	17828	107390158	63724909	5533	9149											
BEND3	57673	broad.mit.edu	37	6	107390799	107390799	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:107390799C>T	ENST00000429433.2	-	5	2245	c.1596G>A	c.(1594-1596)gtG>gtA	p.V532V	BEND3_ENST00000369042.1_Silent_p.V532V	NM_001080450.2	NP_001073919.1	Q5T5X7	BEND3_HUMAN	BEN domain containing 3	532										central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(7)|lung(10)|ovary(4)|prostate(3)	30						AGTCGATGGGCACCAGCCAGA	0.622													18	27					0	0	1	0	0	T	107390799	C	T	107390799	2	4	81	1	0	0	0	0	0	0	0	1	1397	697	25	2		2	BEND3	6	107390799	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	641	107390799	63724268	5534	9150											
BEND3	57673	broad.mit.edu	37	6	107390913	107390913	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:107390913C>T	ENST00000429433.2	-	5	2131	c.1482G>A	c.(1480-1482)ccG>ccA	p.P494P	BEND3_ENST00000369042.1_Silent_p.P494P	NM_001080450.2	NP_001073919.1	Q5T5X7	BEND3_HUMAN	BEN domain containing 3	494										central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(7)|lung(10)|ovary(4)|prostate(3)	30						AGTCATCACGCGGGGGGTCGC	0.672													6	25					0	0	1	0	0	T	107390913	C	T	107390913	2	4	81	1	0	0	0	0	0	0	0	1	1397	755	27	1		1	BEND3	6	107390913	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	114	107390913	63724154	5535	9151											
SOBP	55084	broad.mit.edu	37	6	107827511	107827511	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:107827511G>T	ENST00000317357.5	+	3	960	c.301G>T	c.(301-303)Ggc>Tgc	p.G101C		NM_018013.3	NP_060483.3	A7XYQ1	SOBP_HUMAN	sine oculis binding protein homolog (Drosophila)	101							metal ion binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	26		all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156)		BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154)		TATAAGCACAGGCTATTCAGG	0.408													17	164					3.52763e-06	4.02143e-06	1	1	0	T	107827511	G	T	107827511	3	4	81	1	0	0	0	0	1	0	0	0	14966	1000	35	4	311	4	SOBP	6	107827511	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	436598	107827511	63287556	5536	9152											
SCML4	256380	broad.mit.edu	37	6	108070930	108070930	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:108070930C>T	ENST00000369022.2	-	2	279	c.70G>A	c.(70-72)Gca>Aca	p.A24T	SCML4_ENST00000369021.3_Missense_Mutation_p.A53T|SCML4_ENST00000369020.3_Missense_Mutation_p.A82T			Q8N228	SCML4_HUMAN	sex comb on midleg-like 4 (Drosophila)	82					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			endometrium(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(1)	25		all_cancers(87;3.26e-06)|Acute lymphoblastic leukemia(125;3.08e-08)|all_hematologic(75;1.15e-06)|all_epithelial(87;0.00142)|Colorectal(196;0.0316)		BRCA - Breast invasive adenocarcinoma(108;0.01)|Epithelial(106;0.0509)|all cancers(137;0.0586)|OV - Ovarian serous cystadenocarcinoma(136;0.0758)		ACCGTGGCTGCGTCCTGAGGG	0.602													8	78					0	0	1	0	0	T	108070930	C	T	108070930	3	4	81	1	0	0	0	0	1	0	0	0	13965	768	27	1	1024	1	SCML4	6	108070930	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	243419	108070930	63044137	5537	9153											
NR2E1	7101	broad.mit.edu	37	6	108497746	108497746	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:108497746G>A	ENST00000368986.4	+	4	1007	c.299G>A	c.(298-300)cGc>cAc	p.R100H	NR2E1_ENST00000484978.1_3'UTR|NR2E1_ENST00000368983.3_Missense_Mutation_p.R137H	NM_003269.3	NP_003260.1	Q9Y466	NR2E1_HUMAN	nuclear receptor subfamily 2, group E, member 1	100					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(16)|prostate(1)|skin(3)	30		all_cancers(87;8.13e-05)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00866)|Colorectal(196;0.0637)		BRCA - Breast invasive adenocarcinoma(108;0.013)|Epithelial(106;0.0521)|all cancers(137;0.068)|OV - Ovarian serous cystadenocarcinoma(136;0.0689)		TCCACCATCCGCAAGCAAGTG	0.672													7	16					0	0	1	0	0	A	108497746	G	A	108497746	3	1	81	1	0	0	0	0	1	0	0	0	10673	1087	38	1	313	1	NR2E1	6	108497746	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	426816	108497746	62617321	5538	9154											
LACE1	246269	broad.mit.edu	37	6	108687461	108687461	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:108687461A>G	ENST00000368977.4	+	6	859	c.673A>G	c.(673-675)Att>Gtt	p.I225V		NM_145315.3	NP_660358.2	Q8WV93	LACE1_HUMAN	lactation elevated 1	225							ATP binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	15		all_cancers(87;1.5e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;6.79e-05)|Colorectal(196;0.0294)|all_lung(197;0.0486)|Lung SC(18;0.152)		BRCA - Breast invasive adenocarcinoma(108;0.00179)|Epithelial(106;0.0024)|all cancers(137;0.00379)|OV - Ovarian serous cystadenocarcinoma(136;0.0118)		TGATGCCATGATTCTGAAACA	0.378													3	30					0	0	1	0	0	G	108687461	A	G	108687461	3	3	81	1	0	0	0	0	1	0	0	0	8634	333	12	3	695	3	LACE1	6	108687461	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	189715	108687461	62427606	5539	9155											
SESN1	27244	broad.mit.edu	37	6	109321740	109321740	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:109321740T>A	ENST00000436639.2	-	4	1428	c.683A>T	c.(682-684)aAa>aTa	p.K228I	SESN1_ENST00000302071.2_Missense_Mutation_p.K103I|SESN1_ENST00000356644.7_Missense_Mutation_p.K169I	NM_014454.2	NP_055269.1	Q9Y6P5	SESN1_HUMAN	sestrin 1	169					cell cycle arrest|negative regulation of cell proliferation|response to DNA damage stimulus	nucleus				cervix(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	10		all_cancers(87;6.45e-05)|Acute lymphoblastic leukemia(125;3.55e-10)|all_hematologic(75;1.68e-07)|all_epithelial(87;0.0106)|Colorectal(196;0.0637)		Epithelial(106;0.0014)|BRCA - Breast invasive adenocarcinoma(108;0.00146)|all cancers(137;0.0031)|OV - Ovarian serous cystadenocarcinoma(136;0.0117)		GGCTAACACTTTGTTAAGTTC	0.403													14	77					0	0	1	0	0	A	109321740	T	A	109321740	3	1	81	1	0	0	0	0	1	0	0	0	14178	1841	64	5	1000	5	SESN1	6	109321740	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	634279	109321740	61793327	5540	9156											
CD164	8763	broad.mit.edu	37	6	109700818	109700818	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:109700818C>T	ENST00000368961.5	-	2	403	c.223G>A	c.(223-225)Gtt>Att	p.V75I	CD164_ENST00000275080.7_Missense_Mutation_p.V75I|CD164_ENST00000324953.5_Missense_Mutation_p.V75I|CD164_ENST00000310786.4_Missense_Mutation_p.V75I|CD164_ENST00000504373.1_Missense_Mutation_p.V41I|CD164_ENST00000512821.1_Missense_Mutation_p.V75I|CD164_ENST00000413644.2_Missense_Mutation_p.V75I|CD164_ENST00000506649.1_5'UTR			Q04900	MUC24_HUMAN	CD164 molecule, sialomucin	75					hemopoiesis|heterophilic cell-cell adhesion|immune response|muscle organ development|negative regulation of cell adhesion|negative regulation of cell proliferation|signal transduction	endosome membrane|extracellular region|integral to plasma membrane|lysosomal membrane	protein binding			breast(1)|lung(2)	3		all_cancers(87;4.65e-22)|all_epithelial(87;2.54e-20)|all_lung(197;1.6e-05)|Lung NSC(302;2.92e-05)|Colorectal(196;3.46e-05)|Ovarian(999;0.0175)		Epithelial(106;7.83e-46)|all cancers(137;1.15e-45)|OV - Ovarian serous cystadenocarcinoma(136;2.89e-26)|BRCA - Breast invasive adenocarcinoma(108;0.00128)|GBM - Glioblastoma multiforme(226;0.16)		GTATTAACAACGCTAACATTA	0.353													20	60					0	0	1	0	0	T	109700818	C	T	109700818	3	4	81	1	0	0	0	0	1	0	0	0	2991	536	19	1	441	1	CD164	6	109700818	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	379078	109700818	61414249	5541	9157											
PPIL6	285755	broad.mit.edu	37	6	109748356	109748356	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:109748356C>A	ENST00000521072.2	-	4	1004	c.424G>T	c.(424-426)Gat>Tat	p.D142Y	PPIL6_ENST00000424445.2_Missense_Mutation_p.D110Y|PPIL6_ENST00000440797.2_Missense_Mutation_p.D142Y|PPIL6_ENST00000524031.1_5'UTR	NM_173672.4	NP_775943.1	Q8IXY8	PPIL6_HUMAN	peptidylprolyl isomerase (cyclophilin)-like 6	142					protein folding		peptidyl-prolyl cis-trans isomerase activity			large_intestine(3)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6		all_cancers(87;1.1e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000144)|all_lung(197;0.0221)|Colorectal(196;0.0488)|Lung SC(18;0.0548)		Epithelial(106;0.00684)|BRCA - Breast invasive adenocarcinoma(108;0.00889)|all cancers(137;0.0106)|OV - Ovarian serous cystadenocarcinoma(136;0.0259)		AACACGAAATCATGCTGTGAA	0.318													9	33					0.361761	0.363003	1	1	0	A	109748356	C	A	109748356	3	1	81	1	0	0	0	0	1	0	0	0	12380	826	29	5	613	5	PPIL6	6	109748356	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	47538	109748356	61366711	5542	9158											
MICAL1	64780	broad.mit.edu	37	6	109767545	109767545	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:109767545G>A	ENST00000368952.4	-	19	2722	c.2432C>T	c.(2431-2433)gCc>gTc	p.A811V	MICAL1_ENST00000358577.3_Missense_Mutation_p.A706V|MICAL1_ENST00000358807.3_Missense_Mutation_p.A792V			Q8TDZ2	MICA1_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 1	792					cytoskeleton organization|signal transduction	cytoplasm|intermediate filament	SH3 domain binding|zinc ion binding			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574)		AACAGGACCGGCCCCCTCCTG	0.647													37	64					0	0	1	0	0	A	109767545	G	A	109767545	3	1	81	1	0	0	0	0	1	0	0	0	9617	1203	42	2	856	2	MICAL1	6	109767545	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	19189	109767545	61347522	5543	9159											
MICAL1	64780	broad.mit.edu	37	6	109769590	109769590	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:109769590G>T	ENST00000368952.4	-	13	2018	c.1728C>A	c.(1726-1728)ccC>ccA	p.P576P	MICAL1_ENST00000358577.3_Silent_p.P471P|MICAL1_ENST00000358807.3_Silent_p.P557P			Q8TDZ2	MICA1_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 1	557	CH.				cytoskeleton organization|signal transduction	cytoplasm|intermediate filament	SH3 domain binding|zinc ion binding			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574)		GCAGCTCTGAGGGTTCCCTGT	0.607													11	104					9.70103e-10	1.17698e-09	1	1	0	T	109769590	G	T	109769590	2	4	81	1	0	0	0	0	0	0	0	1	9617	987	35	4		4	MICAL1	6	109769590	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2045	109769590	61345477	5544	9160											
MICAL1	64780	broad.mit.edu	37	6	109775385	109775385	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:109775385G>T	ENST00000368952.4	-	2	362	c.72C>A	c.(70-72)acC>acA	p.T24T	MICAL1_ENST00000358577.3_Silent_p.T5T|MICAL1_ENST00000358807.3_Silent_p.T5T			Q8TDZ2	MICA1_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 1	5					cytoskeleton organization|signal transduction	cytoplasm|intermediate filament	SH3 domain binding|zinc ion binding			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574)		GGTTGGTGGAGGTAGGTGAAG	0.627													4	6					2.56e-06	2.92664e-06	1	1	0	T	109775385	G	T	109775385	2	4	81	1	0	0	0	0	0	0	0	1	9617	987	35	4		4	MICAL1	6	109775385	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	5795	109775385	61339682	5545	9161											
GPR6	2830	broad.mit.edu	37	6	110301030	110301030	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:110301030G>A	ENST00000414000.2	+	3	999	c.760G>A	c.(760-762)Ggc>Agc	p.G254S	GPR6_ENST00000275169.3_Missense_Mutation_p.G239S			P46095	GPR6_HUMAN	G protein-coupled receptor 6	239						integral to plasma membrane				breast(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)	18		all_cancers(87;1.64e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;2.83e-05)|all_lung(197;0.00016)|Lung NSC(302;0.000318)|Colorectal(196;0.0488)		BRCA - Breast invasive adenocarcinoma(108;8.01e-05)|Epithelial(106;8.76e-05)|all cancers(137;0.000197)|OV - Ovarian serous cystadenocarcinoma(136;0.0307)		CATGGTCTTCGGCATCATGCT	0.701													6	16					0	0	1	0	0	A	110301030	G	A	110301030	3	1	81	1	0	0	0	0	1	0	0	0	6741	1116	39	1	717	1	GPR6	6	110301030	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	525645	110301030	60814037	5546	9162											
WASF1	8936	broad.mit.edu	37	6	110423283	110423283	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:110423283T>C	ENST00000392589.1	-	10	1866	c.1030A>G	c.(1030-1032)Atg>Gtg	p.M344V	WASF1_ENST00000392586.1_Missense_Mutation_p.M344V|WASF1_ENST00000392588.1_Missense_Mutation_p.M344V|WASF1_ENST00000359451.2_Missense_Mutation_p.M344V|WASF1_ENST00000392587.2_Missense_Mutation_p.M344V	NM_003931.2	NP_003922.1	Q92558	WASF1_HUMAN	WAS protein family, member 1	344					actin filament polymerization|cellular component movement	actin cytoskeleton	actin binding			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(87;1.18e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488)		OV - Ovarian serous cystadenocarcinoma(136;0.0364)|Epithelial(106;0.051)|all cancers(137;0.0687)		GTTGAAGTCATTGAAGCTCTT	0.562													40	57					0	0	1	0	0	C	110423283	T	C	110423283	3	2	81	1	0	0	0	0	1	0	0	0	17312	1493	52	3	657	3	WASF1	6	110423283	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	122253	110423283	60691784	5547	9163											
CDK19	23097	broad.mit.edu	37	6	110953232	110953232	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:110953232C>T	ENST00000368911.3	-	6	826		c.e6+1		CDK19_ENST00000413605.2_Splice_Site|CDK19_ENST00000323817.3_Splice_Site	NM_015076.3	NP_055891.1	Q9BWU1	CDK19_HUMAN	cyclin-dependent kinase 19								ATP binding|cyclin-dependent protein kinase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)	22						GACCAACTTACCAATGGCCTT	0.338													23	68					0	0	1	0	0	T	110953232	C	T	110953232	5	4	81	1	0	0	0	0	0	0	1	0	3157	521	18	2	893	2	CDK19	6	110953232	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	529949	110953232	60161835	5548	9164											
KIAA1919	91749	broad.mit.edu	37	6	111587087	111587087	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:111587087G>A	ENST00000368847.4	+	4	675	c.322G>A	c.(322-324)Gtc>Atc	p.V108I		NM_153369.2	NP_699200.2	Q5TF39	NAGT1_HUMAN	KIAA1919	108					carbohydrate transport|sodium ion transport	apical plasma membrane|integral to membrane	symporter activity			large_intestine(3)|lung(2)|ovary(4)|skin(3)	12		all_cancers(87;2.35e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.0209)		OV - Ovarian serous cystadenocarcinoma(136;0.055)|all cancers(137;0.0871)|Epithelial(106;0.0884)		AGGTGGTAACGTCCTTATCTT	0.408													18	36					0	0	1	0	0	A	111587087	G	A	111587087	3	1	81	1	0	0	0	0	1	0	0	0	8304	1145	40	1	336	1	KIAA1919	6	111587087	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	633855	111587087	59527980	5549	9165											
KIAA1919	91749	broad.mit.edu	37	6	111587479	111587480	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:111587479_111587480insT	ENST00000368847.4	+	4	1067_1068	c.714_715insT	c.(715-717)tttfs	p.F239fs		NM_153369.2	NP_699200.2	Q5TF39	NAGT1_HUMAN	KIAA1919	239					carbohydrate transport|sodium ion transport	apical plasma membrane|integral to membrane	symporter activity			large_intestine(3)|lung(2)|ovary(4)|skin(3)	12		all_cancers(87;2.35e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.0209)		OV - Ovarian serous cystadenocarcinoma(136;0.055)|all cancers(137;0.0871)|Epithelial(106;0.0884)		TTCTGTTCTTCTTTTTTTATGT	0.401													23	27	---	---	---	---						T	111587480	-	T	111587479	7	5	81	1	0	1	1	0	0	0	0	0	8304	912	32	0	728	0	KIAA1919	6	111587479	Frame_Shift_Ins	INS	-	TCGA-DU-6392-01A-11D-1705-08	392	111587479	59527588	5550	9166											
KIAA1919	91749	broad.mit.edu	37	6	111587679	111587679	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:111587679G>A	ENST00000368847.4	+	4	1267	c.914G>A	c.(913-915)aGc>aAc	p.S305N		NM_153369.2	NP_699200.2	Q5TF39	NAGT1_HUMAN	KIAA1919	305					carbohydrate transport|sodium ion transport	apical plasma membrane|integral to membrane	symporter activity			large_intestine(3)|lung(2)|ovary(4)|skin(3)	12		all_cancers(87;2.35e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.0209)		OV - Ovarian serous cystadenocarcinoma(136;0.055)|all cancers(137;0.0871)|Epithelial(106;0.0884)		AACATTGGCAGCCTGACTTCA	0.468													17	163					0	0	1	0	0	A	111587679	G	A	111587679	3	1	81	1	0	0	0	0	1	0	0	0	8304	971	34	2	928	2	KIAA1919	6	111587679	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	200	111587679	59527388	5551	9167											
REV3L	5980	broad.mit.edu	37	6	111694798	111694798	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:111694798C>A	ENST00000435970.1	-	15	5342	c.4526G>T	c.(4525-4527)aGa>aTa	p.R1509I	REV3L_ENST00000368802.3_Missense_Mutation_p.R1587I|REV3L_ENST00000358835.3_Missense_Mutation_p.R1587I|REV3L_ENST00000368805.1_Missense_Mutation_p.R1587I			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	1587					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		TTTTGTACTTCTGGGAGTTCG	0.358								DNA polymerases (catalytic subunits)					9	290					3.07112e-06	3.5041e-06	1	1	0	A	111694798	C	A	111694798	3	1	81	1	0	0	0	0	1	0	0	0	13292	913	32	4	4712	4	REV3L	6	111694798	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	107119	111694798	59420269	5552	9168											
REV3L	5980	broad.mit.edu	37	6	111695487	111695488	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:111695487_111695488insT	ENST00000435970.1	-	15	4652_4653	c.3836_3837insA	c.(3835-3837)aatfs	p.N1279fs	REV3L_ENST00000368805.1_Frame_Shift_Ins_p.N1357fs|REV3L_ENST00000368802.3_Frame_Shift_Ins_p.N1357fs|REV3L_ENST00000358835.3_Frame_Shift_Ins_p.N1357fs			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	1357					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		GGTCAAATATATTTTTTTGAAT	0.307								DNA polymerases (catalytic subunits)					39	74	---	---	---	---						T	111695488	-	T	111695487	7	5	81	1	0	1	1	0	0	0	0	0	13292	446	16	0	5401	0	REV3L	6	111695487	Frame_Shift_Ins	INS	-	TCGA-DU-6392-01A-11D-1705-08	689	111695487	59419580	5553	9169											
REV3L	5980	broad.mit.edu	37	6	111695589	111695589	+	Silent	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:111695589A>T	ENST00000435970.1	-	15	4551	c.3735T>A	c.(3733-3735)gtT>gtA	p.V1245V	REV3L_ENST00000368802.3_Silent_p.V1323V|REV3L_ENST00000358835.3_Silent_p.V1323V|REV3L_ENST00000368805.1_Silent_p.V1323V			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	1323					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		TAGAATTACAAACAACTGATG	0.353								DNA polymerases (catalytic subunits)					5	124					0	0	1	0	0	T	111695589	A	T	111695589	2	4	81	1	0	0	0	0	0	0	0	1	13292	1	1	5		5	REV3L	6	111695589	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	102	111695589	59419478	5554	9170											
REV3L	5980	broad.mit.edu	37	6	111697474	111697474	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:111697474C>T	ENST00000435970.1	-	15	2666	c.1850G>A	c.(1849-1851)cGt>cAt	p.R617H	REV3L_ENST00000368802.3_Missense_Mutation_p.R695H|REV3L_ENST00000358835.3_Missense_Mutation_p.R695H|REV3L_ENST00000368805.1_Missense_Mutation_p.R695H			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	695					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		GTTAGGGTGACGGTGCATATG	0.313								DNA polymerases (catalytic subunits)					20	32					0	0	1	0	0	T	111697474	C	T	111697474	3	4	81	1	0	0	0	0	1	0	0	0	13292	536	19	1	7388	1	REV3L	6	111697474	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1885	111697474	59417593	5555	9171											
TRAF3IP2	10758	broad.mit.edu	37	6	111887723	111887723	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:111887723T>C	ENST00000368761.5	-	7	1878	c.1400A>G	c.(1399-1401)aAa>aGa	p.K467R	TRAF3IP2_ENST00000359831.4_Missense_Mutation_p.K466R|TRAF3IP2_ENST00000392556.4_Missense_Mutation_p.K55R|TRAF3IP2-AS1_ENST00000449449.2_RNA|TRAF3IP2-AS1_ENST00000456352.2_RNA|TRAF3IP2-AS1_ENST00000440395.1_RNA|TRAF3IP2_ENST00000340026.6_Missense_Mutation_p.K476R|TRAF3IP2-AS1_ENST00000606892.1_RNA|TRAF3IP2-AS1_ENST00000438298.2_RNA|TRAF3IP2_ENST00000368731.2_5'UTR|TRAF3IP2-AS1_ENST00000442928.2_RNA|TRAF3IP2_ENST00000368735.1_Missense_Mutation_p.K11R|TRAF3IP2-AS1_ENST00000532353.1_RNA	NM_001164281.2|NM_147686.3	NP_001157753.1|NP_679211.2	O43734	CIKS_HUMAN	TRAF3 interacting protein 2	476	SEFIR.				intracellular signal transduction|positive regulation of I-kappaB kinase/NF-kappaB cascade	intracellular				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	18		all_cancers(87;7.87e-06)|Acute lymphoblastic leukemia(125;3.61e-09)|all_hematologic(75;2.63e-07)|all_epithelial(87;0.0024)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.033)|all cancers(137;0.0412)|Epithelial(106;0.0732)		CACGTCCTGTTTGTATTTGGG	0.488													43	68					0	0	1	0	0	C	111887723	T	C	111887723	3	2	81	1	0	0	0	0	1	0	0	0	16502	1841	64	3	309	3	TRAF3IP2	6	111887723	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	190249	111887723	59227344	5556	9172											
FYN	2534	broad.mit.edu	37	6	111983139	111983139	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:111983139G>A	ENST00000354650.3	-	14	2023	c.1417C>T	c.(1417-1419)Cgg>Tgg	p.R473W	FYN_ENST00000356013.2_Missense_Mutation_p.R418W|FYN_ENST00000229471.4_Missense_Mutation_p.R418W|FYN_ENST00000538466.1_Missense_Mutation_p.R470W|FYN_ENST00000368682.3_Missense_Mutation_p.R470W|FYN_ENST00000368678.4_Missense_Mutation_p.R470W|FYN_ENST00000229470.5_Missense_Mutation_p.R421W|FYN_ENST00000368667.2_Missense_Mutation_p.R473W	NM_002037.5	NP_002028.1	P06241	FYN_HUMAN	FYN oncogene related to SRC, FGR, YES	473	Protein kinase.				axon guidance|calcium ion transport|feeding behavior|interspecies interaction between organisms|intracellular protein kinase cascade|learning|leukocyte migration|platelet activation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|viral reproduction	cytosol|endosome|plasma membrane	ATP binding|glycoprotein binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(17)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	30		all_cancers(87;1.37e-05)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00125)|Colorectal(196;0.0211)		all cancers(137;0.0451)|OV - Ovarian serous cystadenocarcinoma(136;0.0476)|Epithelial(106;0.102)	Dasatinib(DB01254)	AGCACCTCCCGGTTGTTCATG	0.602													10	71					0	0	1	0	0	A	111983139	G	A	111983139	3	1	81	1	0	0	0	0	1	0	0	0	6161	1115	39	1	200	1	FYN	6	111983139	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	95416	111983139	59131928	5557	9173											
WISP3	8838	broad.mit.edu	37	6	112390780	112390780	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:112390780G>A	ENST00000361714.1	+	5	1121	c.1076G>A	c.(1075-1077)tGc>tAc	p.C359Y	WISP3_ENST00000368666.2_Missense_Mutation_p.C341Y|WISP3_ENST00000409166.1_Missense_Mutation_p.C117Y|WISP3_ENST00000368663.3_Missense_Mutation_p.C318Y|WISP3_ENST00000604763.1_Missense_Mutation_p.C341Y|WISP3_ENST00000230529.5_Missense_Mutation_p.C341Y			O95389	WISP3_HUMAN	WNT1 inducible signaling pathway protein 3	341					cell-cell signaling|regulation of cell growth|signal transduction	extracellular region|soluble fraction	growth factor activity|insulin-like growth factor binding			breast(1)|central_nervous_system(1)|large_intestine(3)|lung(7)|prostate(1)	13		all_cancers(87;0.000196)|Acute lymphoblastic leukemia(125;1.18e-05)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0283)|OV - Ovarian serous cystadenocarcinoma(136;0.0613)|Epithelial(106;0.0827)|GBM - Glioblastoma multiforme(226;0.0972)|BRCA - Breast invasive adenocarcinoma(108;0.246)		CAGAGAAACTGCAGAGAACCT	0.343													8	92					0	0	1	0	0	A	112390780	G	A	112390780	3	1	81	1	0	0	0	0	1	0	0	0	17434	1319	46	2	1094	2	WISP3	6	112390780	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	407641	112390780	58724287	5558	9174											
LAMA4	3910	broad.mit.edu	37	6	112499372	112499372	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:112499372G>A	ENST00000230538.7	-	10	1537	c.1140C>T	c.(1138-1140)caC>caT	p.H380H	LAMA4_ENST00000522006.1_Silent_p.H373H|LAMA4_ENST00000389463.4_Silent_p.H373H|LAMA4_ENST00000424408.2_Silent_p.H373H	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	380	Domain II and I.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		GCTGACTTGCGTGGTTAATGG	0.373													28	53					0	0	1	0	0	A	112499372	G	A	112499372	2	1	81	1	0	0	0	0	0	0	0	1	8647	1136	40	1		1	LAMA4	6	112499372	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	108592	112499372	58615695	5559	9175											
LAMA4	3910	broad.mit.edu	37	6	112535229	112535229	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:112535229A>C	ENST00000431543.2	-	4	594	c.340T>G	c.(340-342)Tcg>Gcg	p.S114A	LAMA4_ENST00000522006.1_Intron|LAMA4_ENST00000389463.4_Intron|LAMA4_ENST00000424408.2_Intron|LAMA4_ENST00000230538.7_Intron|LAMA4_ENST00000524032.1_Intron			Q16363	LAMA4_HUMAN	laminin, alpha 4	0	Laminin EGF-like 1.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		AGAATGAACGATAGGGCAGAA	0.483													25	39					0	0	1	0	0	C	112535229	A	C	112535229	3	2	81	1	0	0	0	0	1	0	0	0	8647	348	12	4		4	LAMA4	6	112535229	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	35857	112535229	58579838	5560	9176											
LAMA4	3910	broad.mit.edu	37	6	112575078	112575078	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:112575078G>A	ENST00000368638.4	-	2	545	c.275C>T	c.(274-276)tCt>tTt	p.S92F	LAMA4_ENST00000522006.1_Intron|LAMA4_ENST00000389463.4_Intron|LAMA4_ENST00000431543.2_Intron|LAMA4_ENST00000424408.2_Intron|RP11-506B6.6_ENST00000588837.1_RNA|RP11-506B6.6_ENST00000585504.1_RNA|RP11-506B6.6_ENST00000585450.1_RNA|RP11-506B6.6_ENST00000587816.1_RNA|RP11-506B6.6_ENST00000590673.1_RNA|LAMA4_ENST00000230538.7_Intron|RP11-506B6.6_ENST00000590804.1_RNA|RP11-506B6.6_ENST00000590293.1_RNA|RP11-506B6.6_ENST00000433684.3_RNA|RP11-506B6.6_ENST00000585611.1_RNA|LAMA4_ENST00000453937.2_Missense_Mutation_p.S92F|RP11-506B6.6_ENST00000590584.1_RNA			Q16363	LAMA4_HUMAN	laminin, alpha 4	0	Laminin EGF-like 1.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		AAGAGGCGGAGAGAGAGAGAA	0.587													12	23					0	0	1	0	0	A	112575078	G	A	112575078	3	1	81	1	0	0	0	0	1	0	0	0	8647	942	33	2	5516	2	LAMA4	6	112575078	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	39849	112575078	58539989	5561	9177											
HDAC2	3066	broad.mit.edu	37	6	114279819	114279819	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:114279819G>A	ENST00000519065.1	-	3	653	c.277C>T	c.(277-279)Cag>Tag	p.Q93*	HDAC2_ENST00000519108.1_Nonsense_Mutation_p.Q63*|HDAC2_ENST00000368632.2_Nonsense_Mutation_p.Q63*|HDAC2_ENST00000398283.2_Nonsense_Mutation_p.Q187*			Q92769	HDAC2_HUMAN	histone deacetylase 2	93	Histone deacetylase.			QR -> HI (in Ref. 1; AAC50814).	blood coagulation|dendrite development|embryonic digit morphogenesis|epidermal cell differentiation|eyelid development in camera-type eye|fungiform papilla formation|hair follicle placode formation|maintenance of chromatin silencing|negative regulation of apoptosis|negative regulation of cell cycle|negative regulation of neuron projection development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|odontogenesis of dentine-containing tooth|positive regulation of cell proliferation|positive regulation of proteolysis|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|ESC/E(Z) complex|NuRD complex|Sin3 complex	chromatin binding|enzyme binding|histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|sequence-specific DNA binding|transcription factor binding			biliary_tract(1)|central_nervous_system(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(2)	27		all_cancers(87;0.000629)|all_epithelial(87;0.00274)|Colorectal(196;0.0317)|all_lung(197;0.24)		all cancers(137;0.00318)|OV - Ovarian serous cystadenocarcinoma(136;0.00569)|Epithelial(106;0.0112)|GBM - Glioblastoma multiforme(226;0.0832)	Vorinostat(DB02546)	GTACATCTCTGCATCTGCTTA	0.318													39	57					0	0	1	0	0	A	114279819	G	A	114279819	4	1	81	1	0	0	0	0	0	1	0	0	7048	1328	46	2	1237	2	HDAC2	6	114279819	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1704741	114279819	56835248	5562	9178											
FRK	2444	broad.mit.edu	37	6	116263743	116263743	+	Missense_Mutation	SNP	C	C	A	rs12209851		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:116263743C>A	ENST00000606080.1	-	8	1798	c.1352G>T	c.(1351-1353)aGa>aTa	p.R451I	FRK_ENST00000538210.1_Missense_Mutation_p.R309I	NM_002031.2	NP_002022.1	P42685	FRK_HUMAN	fyn-related kinase	451	Protein kinase.				negative regulation of cell proliferation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|skin(1)|urinary_tract(1)	27		all_cancers(87;0.00559)|all_epithelial(87;0.00738)|Colorectal(196;0.0465)		all cancers(137;0.0128)|OV - Ovarian serous cystadenocarcinoma(136;0.0209)|GBM - Glioblastoma multiforme(226;0.0459)|Epithelial(106;0.0625)		TTGCGGAAGTCTATAGTTTTG	0.423													9	106					0.00448238	0.00470627	1	1	0	A	116263743	C	A	116263743	3	1	81	1	0	0	0	0	1	0	0	0	6083	913	32	4	169	4	FRK	6	116263743	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1983924	116263743	54851324	5563	9179											
FRK	2444	broad.mit.edu	37	6	116277640	116277640	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:116277640A>G	ENST00000606080.1	-	5	1379	c.933T>C	c.(931-933)caT>caC	p.H311H	FRK_ENST00000538210.1_Silent_p.H169H	NM_002031.2	NP_002022.1	P42685	FRK_HUMAN	fyn-related kinase	311	Protein kinase.				negative regulation of cell proliferation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|skin(1)|urinary_tract(1)	27		all_cancers(87;0.00559)|all_epithelial(87;0.00738)|Colorectal(196;0.0465)		all cancers(137;0.0128)|OV - Ovarian serous cystadenocarcinoma(136;0.0209)|GBM - Glioblastoma multiforme(226;0.0459)|Epithelial(106;0.0625)		GCAGACTTCCATGTCTCATCA	0.333													5	80					0	0	1	0	0	G	116277640	A	G	116277640	2	3	81	1	0	0	0	0	0	0	0	1	6083	214	8	3		3	FRK	6	116277640	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	13897	116277640	54837427	5564	9180											
TSPYL1	7259	broad.mit.edu	37	6	116600638	116600638	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:116600638C>T	ENST00000368608.3	-	1	428	c.356G>A	c.(355-357)cGc>cAc	p.R119H	DSE_ENST00000540275.1_Intron	NM_003309.3	NP_003300.1	Q9H0U9	TSYL1_HUMAN	TSPY-like 1	119					nucleosome assembly	nucleolus				breast(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(3)|urinary_tract(1)	11		all_cancers(87;0.0144)|all_epithelial(87;0.021)|Colorectal(196;0.234)		all cancers(137;0.0235)|OV - Ovarian serous cystadenocarcinoma(136;0.0469)|GBM - Glioblastoma multiforme(226;0.0503)|Epithelial(106;0.094)		TTTCAGGCTGCGGTCGGCTGC	0.672													18	36					0	0	1	0	0	T	116600638	C	T	116600638	3	4	81	1	0	0	0	0	1	0	0	0	16720	768	27	1	961	1	TSPYL1	6	116600638	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	322998	116600638	54514429	5565	9181											
DSE	29940	broad.mit.edu	37	6	116720538	116720538	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:116720538G>T	ENST00000331677.3	+	3	569	c.125G>T	c.(124-126)aGc>aTc	p.S42I	DSE_ENST00000540275.1_3'UTR|DSE_ENST00000452085.3_Missense_Mutation_p.S42I|DSE_ENST00000537543.1_Missense_Mutation_p.S61I|DSE_ENST00000359564.2_Missense_Mutation_p.S42I			Q9UL01	DSE_HUMAN	dermatan sulfate epimerase	42					dermatan sulfate biosynthetic process	endoplasmic reticulum|Golgi apparatus|integral to membrane	chondroitin-glucuronate 5-epimerase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)		AACTACGACAGCCATCCCATG	0.547													4	36					0.150653	0.152522	1	1	0	T	116720538	G	T	116720538	3	4	81	1	0	0	0	0	1	0	0	0	4800	971	34	4	127	4	DSE	6	116720538	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	119900	116720538	54394529	5566	9182											
RSPH4A	345895	broad.mit.edu	37	6	116948877	116948877	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:116948877G>A	ENST00000229554.5	+	3	1144	c.1007G>A	c.(1006-1008)cGc>cAc	p.R336H	RSPH4A_ENST00000368580.4_Intron|RSPH4A_ENST00000368581.4_Missense_Mutation_p.R336H	NM_001010892.2	NP_001010892.1	Q5TD94	RSH4A_HUMAN	radial spoke head 4 homolog A (Chlamydomonas)	336					cilium axoneme assembly|cilium movement	cytoplasm|cytoskeleton|radial spoke		p.R336H(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						GAGACATACCGCATATTTCTT	0.438									Kartagener syndrome				30	54					0	0	1	0	0	A	116948877	G	A	116948877	3	1	81	1	0	0	0	0	1	0	0	0	13758	1087	38	1	1017	1	RSPH4A	6	116948877	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	228339	116948877	54166190	5567	9183											
RSPH4A	345895	broad.mit.edu	37	6	116949302	116949302	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:116949302G>T	ENST00000229554.5	+	3	1569	c.1432G>T	c.(1432-1434)Gga>Tga	p.G478*	RSPH4A_ENST00000368580.4_Intron|RSPH4A_ENST00000368581.4_Nonsense_Mutation_p.G478*	NM_001010892.2	NP_001010892.1	Q5TD94	RSH4A_HUMAN	radial spoke head 4 homolog A (Chlamydomonas)	478					cilium axoneme assembly|cilium movement	cytoplasm|cytoskeleton|radial spoke				breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						ACCTTTCCCAGGAAATGAGAG	0.418									Kartagener syndrome				14	40					0.000219431	0.000239308	1	1	0	T	116949302	G	T	116949302	4	4	81	1	0	0	0	0	0	1	0	0	13758	1001	35	4	1442	4	RSPH4A	6	116949302	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	425	116949302	54165765	5568	9184											
ZUFSP	221302	broad.mit.edu	37	6	116973311	116973311	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:116973311C>T	ENST00000368576.3	-	6	1249	c.1006G>A	c.(1006-1008)Gat>Aat	p.D336N	ZUFSP_ENST00000471919.1_5'UTR|ZUFSP_ENST00000368573.1_Silent_p.Q279Q	NM_145062.2	NP_659499.2	Q96AP4	ZUFSP_HUMAN	zinc finger with UFM1-specific peptidase domain	336						intracellular	zinc ion binding			NS(1)|endometrium(2)|kidney(6)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	21				GBM - Glioblastoma multiforme(226;0.0258)|all cancers(137;0.0368)|OV - Ovarian serous cystadenocarcinoma(136;0.0464)|Epithelial(106;0.186)		CGTCTCACATCTGTGGCAGCA	0.393													32	49					0	0	1	0	0	T	116973311	C	T	116973311	3	4	81	1	0	0	0	0	1	0	0	0	18286	913	32	2	750	2	ZUFSP	6	116973311	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	24009	116973311	54141756	5569	9185											
ZUFSP	221302	broad.mit.edu	37	6	116988279	116988279	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:116988279T>A	ENST00000368576.3	-	2	320	c.77A>T	c.(76-78)gAa>gTa	p.E26V	ZUFSP_ENST00000471919.1_Intron|ZUFSP_ENST00000368573.1_Missense_Mutation_p.E26V	NM_145062.2	NP_659499.2	Q96AP4	ZUFSP_HUMAN	zinc finger with UFM1-specific peptidase domain	26						intracellular	zinc ion binding			NS(1)|endometrium(2)|kidney(6)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	21				GBM - Glioblastoma multiforme(226;0.0258)|all cancers(137;0.0368)|OV - Ovarian serous cystadenocarcinoma(136;0.0464)|Epithelial(106;0.186)		AATTTCACTTTCCATGTGAAC	0.353													7	76					0	0	1	0	0	A	116988279	T	A	116988279	3	1	81	1	0	0	0	0	1	0	0	0	18286	1783	62	5	1695	5	ZUFSP	6	116988279	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	14968	116988279	54126788	5570	9186											
KPNA5	3841	broad.mit.edu	37	6	117045503	117045503	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:117045503G>A	ENST00000368564.1	+	10	1112	c.964G>A	c.(964-966)Ggt>Agt	p.G322S	KPNA5_ENST00000356348.1_Missense_Mutation_p.G322S			O15131	IMA5_HUMAN	karyopherin alpha 5 (importin alpha 6)	319	NLS binding site (minor) (By similarity).				NLS-bearing substrate import into nucleus	cytoplasm|nuclear pore	protein binding|protein transporter activity			breast(6)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0298)|all cancers(137;0.0461)|OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.212)		AAGGGCAGTTGGTAATATTGT	0.274													27	31					0	0	1	0	0	A	117045503	G	A	117045503	3	1	81	1	0	0	0	0	1	0	0	0	8476	1348	47	2	1002	2	KPNA5	6	117045503	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	57224	117045503	54069564	5571	9187											
RFX6	222546	broad.mit.edu	37	6	117246619	117246619	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:117246619C>T	ENST00000332958.2	+	16	1698	c.1682C>T	c.(1681-1683)gCg>gTg	p.A561V		NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	561					glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding	p.A561V(3)		cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						TTTCCAGATGCGAGTAAAGCT	0.393													6	113					0	0	1	0	0	T	117246619	C	T	117246619	3	4	81	1	0	0	0	0	1	0	0	0	13319	768	27	1	1744	1	RFX6	6	117246619	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	201116	117246619	53868448	5572	9188											
RFX6	222546	broad.mit.edu	37	6	117246731	117246731	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:117246731C>A	ENST00000332958.2	+	16	1810	c.1794C>A	c.(1792-1794)acC>acA	p.T598T		NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	598					glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						TGGAGACAACCTATCTCCCTC	0.542													38	41					1.36161e-19	1.77385e-19	1	1	0	A	117246731	C	A	117246731	2	1	81	1	0	0	0	0	0	0	0	1	13319	668	24	4		4	RFX6	6	117246731	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	112	117246731	53868336	5573	9189											
ROS1	6098	broad.mit.edu	37	6	117681540	117681540	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:117681540C>T	ENST00000368508.3	-	22	3608	c.3410G>A	c.(3409-3411)gGa>gAa	p.G1137E	GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Missense_Mutation_p.G1132E	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	1137	Fibronectin type-III 5.				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		AGCATATGGTCCTGGCCCCTT	0.398			T	"GOPC, SDC4, SLC34A2, EZR, LRIG3"	"glioblastoma, NSCLC"								4	47					0	0	1	0	0	T	117681540	C	T	117681540	3	4	81	1	0	0	0	0	1	0	0	0	13583	855	30	2	3721	2	ROS1	6	117681540	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	434809	117681540	53433527	5574	9190											
GOPC	57120	broad.mit.edu	37	6	117892043	117892043	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:117892043C>A	ENST00000535237.1	-	6	1121	c.892G>T	c.(892-894)Ggc>Tgc	p.G298C	GOPC_ENST00000467125.1_5'UTR|GOPC_ENST00000052569.6_Missense_Mutation_p.G290C|GOPC_ENST00000368498.2_Missense_Mutation_p.G298C					golgi-associated PDZ and coiled-coil motif containing										GOPC/ROS1(14)	endometrium(1)|large_intestine(3)|lung(4)|ovary(1)	9		all_cancers(87;0.00844)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0363)|OV - Ovarian serous cystadenocarcinoma(136;0.0821)|all cancers(137;0.0976)		ATGCCAAGGCCTTCATGATCT	0.378			O	ROS1	glioblastoma								4	50					1	1	1	1	0	A	117892043	C	A	117892043	3	1	81	1	0	0	0	0	1	0	0	0	6612	681	24	4	512	4	GOPC	6	117892043	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	210503	117892043	53223024	5575	9191											
MCM9	254394	broad.mit.edu	37	6	119232882	119232882	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:119232882G>A	ENST00000316316.6	-	7	1369	c.1083C>T	c.(1081-1083)ttC>ttT	p.F361F	MCM9_ENST00000316068.3_Silent_p.F361F	NM_017696.2	NP_060166.2	Q9NXL9	MCM9_HUMAN	minichromosome maintenance complex component 9	361	MCM.				DNA replication		ATP binding|DNA binding|nucleoside-triphosphatase activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		all_cancers(87;0.122)|all_epithelial(87;0.179)		GBM - Glioblastoma multiforme(226;0.0676)|OV - Ovarian serous cystadenocarcinoma(136;0.194)		CATATTTGAGGAACTGAGATT	0.373													25	42					0	0	1	0	0	A	119232882	G	A	119232882	2	1	81	1	0	0	0	0	0	0	0	1	9444	1165	41	2		2	MCM9	6	119232882	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1340839	119232882	51882185	5576	9192											
FAM184A	79632	broad.mit.edu	37	6	119295646	119295646	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:119295646A>C	ENST00000338891.7	-	14	3305	c.2862T>G	c.(2860-2862)gaT>gaG	p.D954E	FAM184A_ENST00000352896.5_Intron|FAM184A_ENST00000521531.1_Intron|FAM184A_ENST00000368475.4_Intron|RP11-351A11.1_ENST00000518570.1_RNA	NM_024581.4	NP_078857.5	Q8NB25	F184A_HUMAN	family with sequence similarity 184, member A	954										breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						TCTTATTAAAATCTGCCCGCA	0.343													90	137					0	0	1	0	0	C	119295646	A	C	119295646	3	2	81	1	0	0	0	0	1	0	0	0	5542	98	4	4	580	4	FAM184A	6	119295646	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	62764	119295646	51819421	5577	9193											
MAN1A1	4121	broad.mit.edu	37	6	119501064	119501064	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:119501064G>A	ENST00000368468.3	-	13	2323	c.1882C>T	c.(1882-1884)Cat>Tat	p.H628Y		NM_005907.3	NP_005898.2	P33908	MA1A1_HUMAN	mannosidase, alpha, class 1A, member 1	628					post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum|ER-Golgi intermediate compartment|Golgi membrane|integral to membrane|membrane fraction	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|skin(3)	24		all_epithelial(87;0.173)		OV - Ovarian serous cystadenocarcinoma(136;0.0612)|GBM - Glioblastoma multiforme(226;0.0702)|all cancers(137;0.115)		AAGATCCAATGCTCCAGTGGA	0.378													25	46					0	0	1	0	0	A	119501064	G	A	119501064	3	1	81	1	0	0	0	0	1	0	0	0	9260	1319	46	2	83	2	MAN1A1	6	119501064	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	205418	119501064	51614003	5578	9194											
MAN1A1	4121	broad.mit.edu	37	6	119669662	119669662	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:119669662G>A	ENST00000368468.3	-	2	1010	c.569C>T	c.(568-570)gCc>gTc	p.A190V	MAN1A1_ENST00000368466.2_Missense_Mutation_p.A190V	NM_005907.3	NP_005898.2	P33908	MA1A1_HUMAN	mannosidase, alpha, class 1A, member 1	190					post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum|ER-Golgi intermediate compartment|Golgi membrane|integral to membrane|membrane fraction	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|skin(3)	24		all_epithelial(87;0.173)		OV - Ovarian serous cystadenocarcinoma(136;0.0612)|GBM - Glioblastoma multiforme(226;0.0702)|all cancers(137;0.115)		GCGGATGGCGGCGTCGGCGGG	0.662													13	16					0	0	1	0	0	A	119669662	G	A	119669662	3	1	81	1	0	0	0	0	1	0	0	0	9260	1203	42	2	1440	2	MAN1A1	6	119669662	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	168598	119669662	51445405	5579	9195											
GJA1	2697	broad.mit.edu	37	6	121768052	121768052	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:121768052C>T	ENST00000282561.3	+	2	216	c.59C>T	c.(58-60)gCt>gTt	p.A20V		NM_000165.3	NP_000156.1	P17302	CXA1_HUMAN	gap junction protein, alpha 1, 43kDa	20					cell-cell signaling|cellular membrane organization|gap junction assembly|heart development|muscle contraction|positive regulation of I-kappaB kinase/NF-kappaB cascade	connexon complex|Golgi-associated vesicle membrane|integral to plasma membrane|membrane raft	ion transmembrane transporter activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(2)|large_intestine(10)|liver(2)|lung(13)|ovary(2)	33				GBM - Glioblastoma multiforme(226;0.00252)	Carvedilol(DB01136)	TACTCAACTGCTGGAGGGAAG	0.522													50	65					0	0	1	0	0	T	121768052	C	T	121768052	3	4	81	1	0	0	0	0	1	0	0	0	6442	797	28	2	61	2	GJA1	6	121768052	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2098390	121768052	49347015	5580	9196											
GJA1	2697	broad.mit.edu	37	6	121768220	121768220	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:121768220G>A	ENST00000282561.3	+	2	384	c.227G>A	c.(226-228)cGc>cAc	p.R76H		NM_000165.3	NP_000156.1	P17302	CXA1_HUMAN	gap junction protein, alpha 1, 43kDa	76			R -> H (in HSS; overlapping features with oculodentodigital dysplasia).|R -> S (in ODDD).		cell-cell signaling|cellular membrane organization|gap junction assembly|heart development|muscle contraction|positive regulation of I-kappaB kinase/NF-kappaB cascade	connexon complex|Golgi-associated vesicle membrane|integral to plasma membrane|membrane raft	ion transmembrane transporter activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(2)|large_intestine(10)|liver(2)|lung(13)|ovary(2)	33				GBM - Glioblastoma multiforme(226;0.00252)	Carvedilol(DB01136)	TCTCATGTGCGCTTCTGGGTC	0.463													22	26					0	0	1	0	0	A	121768220	G	A	121768220	3	1	81	1	0	0	0	0	1	0	0	0	6442	1087	38	1	229	1	GJA1	6	121768220	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	168	121768220	49346847	5581	9197											
GJA1	2697	broad.mit.edu	37	6	121768987	121768987	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:121768987G>A	ENST00000282561.3	+	2	1151	c.994G>A	c.(994-996)Gca>Aca	p.A332T		NM_000165.3	NP_000156.1	P17302	CXA1_HUMAN	gap junction protein, alpha 1, 43kDa	332					cell-cell signaling|cellular membrane organization|gap junction assembly|heart development|muscle contraction|positive regulation of I-kappaB kinase/NF-kappaB cascade	connexon complex|Golgi-associated vesicle membrane|integral to plasma membrane|membrane raft	ion transmembrane transporter activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(2)|large_intestine(10)|liver(2)|lung(13)|ovary(2)	33				GBM - Glioblastoma multiforme(226;0.00252)	Carvedilol(DB01136)	TAACTCCCATGCACAGCCTTT	0.468													36	46					0	0	1	0	0	A	121768987	G	A	121768987	3	1	81	1	0	0	0	0	1	0	0	0	6442	1319	46	2	996	2	GJA1	6	121768987	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	767	121768987	49346080	5582	9198											
FABP7	2173	broad.mit.edu	37	6	123104897	123104897	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:123104897C>A	ENST00000368444.3	+	4	704	c.384C>A	c.(382-384)caC>caA	p.H128Q		NM_001446.3	NP_001437.1	O15540	FABP7_HUMAN	fatty acid binding protein 7, brain	128	Fatty acid binding.				negative regulation of cell proliferation	cytoplasm	lipid binding|transporter activity			kidney(1)|large_intestine(1)|lung(2)|stomach(1)	5				GBM - Glioblastoma multiforme(226;0.226)	Alpha-Linolenic Acid(DB00132)|gamma-Homolinolenic acid(DB00154)|Icosapent(DB00159)	CTGTTCGCCACTATGAGAAGG	0.403													12	101					0.0202918	0.0209342	1	1	0	A	123104897	C	A	123104897	3	1	81	1	0	0	0	0	1	0	0	0	5393	564	20	4	398	4	FABP7	6	123104897	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1335910	123104897	48010170	5583	9199											
TRDN	10345	broad.mit.edu	37	6	123673693	123673693	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:123673693C>T	ENST00000334268.4	-	21	1677	c.1360G>A	c.(1360-1362)Gtg>Atg	p.V454M	TRDN_ENST00000398178.3_Missense_Mutation_p.V454M			Q13061	TRDN_HUMAN	triadin	454					muscle contraction	integral to membrane|plasma membrane|sarcoplasmic reticulum membrane	receptor binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	41				GBM - Glioblastoma multiforme(226;0.184)		CCTTGCTCCACTGTCTTGGTT	0.398													4	36					0	0	1	0	0	T	123673693	C	T	123673693	3	4	81	1	0	0	0	0	1	0	0	0	16529	565	20	2	913	2	TRDN	6	123673693	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	568796	123673693	47441374	5584	9200											
TPD52L1	7164	broad.mit.edu	37	6	125574876	125574876	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:125574876C>A	ENST00000534000.1	+	5	696	c.400C>A	c.(400-402)Cat>Aat	p.H134N	TPD52L1_ENST00000368402.5_Missense_Mutation_p.H134N|TPD52L1_ENST00000392482.2_Intron|TPD52L1_ENST00000530868.1_3'UTR|TPD52L1_ENST00000304877.13_Missense_Mutation_p.H139N|TPD52L1_ENST00000524679.1_Intron|TPD52L1_ENST00000527711.1_Intron|TPD52L1_ENST00000528193.1_Missense_Mutation_p.H134N|TPD52L1_ENST00000532429.1_Missense_Mutation_p.H105N|TPD52L1_ENST00000368388.2_Intron|HDDC2_ENST00000608456.1_Intron|TPD52L1_ENST00000534199.1_Intron	NM_003287.2	NP_003278.1	Q16890	TPD53_HUMAN	tumor protein D52-like 1	134					DNA fragmentation involved in apoptotic nuclear change|G2/M transition of mitotic cell cycle|induction of apoptosis|positive regulation of JNK cascade|positive regulation of MAP kinase activity	perinuclear region of cytoplasm	caspase activator activity|protein heterodimerization activity|protein homodimerization activity			endometrium(2)|large_intestine(2)|prostate(1)	5			LUSC - Lung squamous cell carcinoma(4;0.0263)|Lung(4;0.0828)	GBM - Glioblastoma multiforme(226;0.0265)		CTCCATTCGCCATTCCATAAG	0.299													23	45					0.000586117	0.000632696	1	1	0	A	125574876	C	A	125574876	3	1	81	1	0	0	0	0	1	0	0	0	16459	594	21	5	418	5	TPD52L1	6	125574876	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1901183	125574876	45540191	5585	9201											
TPD52L1	7164	broad.mit.edu	37	6	125584090	125584090	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:125584090G>A	ENST00000534000.1	+	7	893	c.597G>A	c.(595-597)gaG>gaA	p.E199E	TPD52L1_ENST00000368402.5_3'UTR|TPD52L1_ENST00000392482.2_3'UTR|TPD52L1_ENST00000530868.1_3'UTR|TPD52L1_ENST00000304877.13_Silent_p.E204E|TPD52L1_ENST00000524679.1_3'UTR|TPD52L1_ENST00000527711.1_Silent_p.E186E|TPD52L1_ENST00000528193.1_3'UTR|TPD52L1_ENST00000532429.1_Silent_p.E170E|TPD52L1_ENST00000368388.2_3'UTR|HDDC2_ENST00000608456.1_Intron|TPD52L1_ENST00000534199.1_3'UTR	NM_003287.2	NP_003278.1	Q16890	TPD53_HUMAN	tumor protein D52-like 1	199					DNA fragmentation involved in apoptotic nuclear change|G2/M transition of mitotic cell cycle|induction of apoptosis|positive regulation of JNK cascade|positive regulation of MAP kinase activity	perinuclear region of cytoplasm	caspase activator activity|protein heterodimerization activity|protein homodimerization activity			endometrium(2)|large_intestine(2)|prostate(1)	5			LUSC - Lung squamous cell carcinoma(4;0.0263)|Lung(4;0.0828)	GBM - Glioblastoma multiforme(226;0.0265)		GGACCAAGGAGGAGGAGCTGC	0.607													7	14					0	0	1	0	0	A	125584090	G	A	125584090	2	1	81	1	0	0	0	0	0	0	0	1	16459	991	35	2		2	TPD52L1	6	125584090	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	9214	125584090	45530977	5586	9202											
HDDC2	51020	broad.mit.edu	37	6	125614012	125614012	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:125614012C>A	ENST00000368377.4	-	4	454	c.251G>T	c.(250-252)aGa>aTa	p.R84I	HDDC2_ENST00000608295.1_Intron|HDDC2_ENST00000398153.2_Missense_Mutation_p.R118I			Q7Z4H3	HDDC2_HUMAN	HD domain containing 2	118	HD.						metal ion binding|phosphoric diester hydrolase activity			endometrium(1)|large_intestine(1)|lung(4)	6			LUSC - Lung squamous cell carcinoma(4;0.0263)|Lung(4;0.0828)	GBM - Glioblastoma multiforme(226;0.0186)		GAGCTCCTTTCTGAGGTCCTC	0.343													43	90					3.68337e-26	4.88207e-26	1	1	0	A	125614012	C	A	125614012	3	1	81	1	0	0	0	0	1	0	0	0	7057	913	32	4	273	4	HDDC2	6	125614012	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	29922	125614012	45501055	5587	9203											
NCOA7	135112	broad.mit.edu	37	6	126210549	126210549	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:126210549C>A	ENST00000368357.3	+	10	1701	c.1349C>A	c.(1348-1350)gCt>gAt	p.A450D	NCOA7_ENST00000392477.2_Missense_Mutation_p.A450D|NCOA7_ENST00000229634.9_Missense_Mutation_p.A335D	NM_001199619.1|NM_001199620.1	NP_001186548.1|NP_001186549.1	Q8NI08	NCOA7_HUMAN	nuclear receptor coactivator 7	450					cell wall macromolecule catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(2)	39				UCEC - Uterine corpus endometrioid carcinoma (4;0.0803)|GBM - Glioblastoma multiforme(226;0.0193)|all cancers(137;0.237)		CGAAAGAAAGCTGAGTCACAA	0.458													26	31					4.59853e-10	5.59907e-10	1	1	0	A	126210549	C	A	126210549	3	1	81	1	0	0	0	0	1	0	0	0	10281	797	28	4	1379	4	NCOA7	6	126210549	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	596537	126210549	44904518	5588	9204											
NCOA7	135112	broad.mit.edu	37	6	126236496	126236496	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:126236496C>T	ENST00000368357.3	+	12	2466	c.2114C>T	c.(2113-2115)aCa>aTa	p.T705I	NCOA7_ENST00000392477.2_Missense_Mutation_p.T705I|NCOA7_ENST00000229634.9_Missense_Mutation_p.T590I	NM_001199619.1|NM_001199620.1	NP_001186548.1|NP_001186549.1	Q8NI08	NCOA7_HUMAN	nuclear receptor coactivator 7	705					cell wall macromolecule catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(2)	39				UCEC - Uterine corpus endometrioid carcinoma (4;0.0803)|GBM - Glioblastoma multiforme(226;0.0193)|all cancers(137;0.237)		CATTTGTACACATTCTTTGTT	0.433													11	120					0	0	1	0	0	T	126236496	C	T	126236496	3	4	81	1	0	0	0	0	1	0	0	0	10281	478	17	2	2152	2	NCOA7	6	126236496	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	25947	126236496	44878571	5589	9205											
NCOA7	135112	broad.mit.edu	37	6	126242113	126242113	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:126242113C>T	ENST00000368357.3	+	13	2621	c.2269C>T	c.(2269-2271)Cgc>Tgc	p.R757C	NCOA7_ENST00000392477.2_Missense_Mutation_p.R757C|NCOA7_ENST00000229634.9_Missense_Mutation_p.R642C	NM_001199619.1|NM_001199620.1	NP_001186548.1|NP_001186549.1	Q8NI08	NCOA7_HUMAN	nuclear receptor coactivator 7	757					cell wall macromolecule catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(2)	39				UCEC - Uterine corpus endometrioid carcinoma (4;0.0803)|GBM - Glioblastoma multiforme(226;0.0193)|all cancers(137;0.237)		AGAGGCAAAGCGCAGGAAGAG	0.453													18	35					0	0	1	0	0	T	126242113	C	T	126242113	3	4	81	1	0	0	0	0	1	0	0	0	10281	768	27	1	2311	1	NCOA7	6	126242113	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	5617	126242113	44872954	5590	9206											
NCOA7	135112	broad.mit.edu	37	6	126243846	126243846	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:126243846G>A	ENST00000368357.3	+	14	2741	c.2389G>A	c.(2389-2391)Gca>Aca	p.A797T	NCOA7_ENST00000392477.2_Missense_Mutation_p.A797T|NCOA7_ENST00000229634.9_Missense_Mutation_p.A682T	NM_001199619.1|NM_001199620.1	NP_001186548.1|NP_001186549.1	Q8NI08	NCOA7_HUMAN	nuclear receptor coactivator 7	797					cell wall macromolecule catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(2)	39				UCEC - Uterine corpus endometrioid carcinoma (4;0.0803)|GBM - Glioblastoma multiforme(226;0.0193)|all cancers(137;0.237)		ACGCCTTCCTGCAAGGGTGCA	0.512													28	36					0	0	1	0	0	A	126243846	G	A	126243846	3	1	81	1	0	0	0	0	1	0	0	0	10281	1319	46	2	2435	2	NCOA7	6	126243846	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1733	126243846	44871221	5591	9207											
TRMT11	60487	broad.mit.edu	37	6	126342392	126342392	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:126342392G>A	ENST00000334379.5	+	12	1347	c.1226G>A	c.(1225-1227)cGc>cAc	p.R409H	TRMT11_ENST00000368332.3_Missense_Mutation_p.R409H	NM_001031712.2	NP_001026882.2	Q7Z4G4	TRM11_HUMAN	tRNA methyltransferase 11 homolog (S. cerevisiae)	409					tRNA processing		methyltransferase activity|nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				GBM - Glioblastoma multiforme(226;0.0356)		ACATCAAGGCGCTTGATCACA	0.398													21	39					0	0	1	0	0	A	126342392	G	A	126342392	3	1	81	1	0	0	0	0	1	0	0	0	16623	1087	38	1	1272	1	TRMT11	6	126342392	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	98546	126342392	44772675	5592	9208											
CENPW	387103	broad.mit.edu	37	6	126667456	126667456	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:126667456G>A	ENST00000368328.4	+	2	332	c.232G>A	c.(232-234)Gca>Aca	p.A78T	CENPW_ENST00000368326.1_Silent_p.P64P|CENPW_ENST00000368325.1_Missense_Mutation_p.A93T			Q5EE01	CENPW_HUMAN	centromere protein W	78						chromosome, centromeric region|nucleus	DNA binding			kidney(2)|large_intestine(1)|lung(3)	6						TGTACTGGCCGCAGCAAAGGT	0.398													5	52					0	0	1	0	0	A	126667456	G	A	126667456	3	1	81	1	0	0	0	0	1	0	0	0	3266	1087	38	1	238	1	CENPW	6	126667456	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	325064	126667456	44447611	5593	9209											
RSPO3	84870	broad.mit.edu	37	6	127471638	127471638	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:127471638C>A	ENST00000356698.4	+	3	946	c.357C>A	c.(355-357)taC>taA	p.Y119*	RSPO3_ENST00000485757.1_3'UTR|RSPO3_ENST00000368317.3_Nonsense_Mutation_p.Y119*	NM_032784.3	NP_116173.2	Q9BXY4	RSPO3_HUMAN	R-spondin 3	119						extracellular region	heparin binding		PTPRK/RSPO3(10)	breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(8)|skin(1)	17				GBM - Glioblastoma multiforme(226;0.0555)		GTGGATTTTACTTACACCTTG	0.373													6	87					8.12818e-05	8.94031e-05	1	1	0	A	127471638	C	A	127471638	4	1	81	1	0	0	0	0	0	1	0	0	13763	576	20	4	367	4	RSPO3	6	127471638	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	804182	127471638	43643429	5594	9210											
RNF146	81847	broad.mit.edu	37	6	127607801	127607801	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:127607801C>T	ENST00000368314.1	+	3	467	c.43C>T	c.(43-45)Ctt>Ttt	p.L15F	RNF146_ENST00000476956.1_3'UTR|RNF146_ENST00000480444.1_3'UTR|RNF146_ENST00000477776.1_3'UTR|RNF146_ENST00000309649.3_Missense_Mutation_p.L14F|RNF146_ENST00000608991.1_Missense_Mutation_p.L14F|RNF146_ENST00000356799.2_3'UTR|RNF146_ENST00000489534.1_3'UTR|RNF146_ENST00000610153.1_Missense_Mutation_p.L15F	NM_001242850.1|NM_001242851.1	NP_001229779.1|NP_001229780.1	Q9NTX7	RN146_HUMAN	ring finger protein 146	15					positive regulation of canonical Wnt receptor signaling pathway|protein autoubiquitination|protein K48-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	cytosol	poly-ADP-D-ribose binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	10				GBM - Glioblastoma multiforme(226;0.0407)|all cancers(137;0.2)		AATAAACATGCTTCCTACAAA	0.353													24	38					0	0	1	0	0	T	127607801	C	T	127607801	3	4	81	1	0	0	0	0	1	0	0	0	13500	797	28	2	42	2	RNF146	6	127607801	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	136163	127607801	43507266	5595	9211											
RNF146	81847	broad.mit.edu	37	6	127608039	127608039	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:127608039T>C	ENST00000368314.1	+	3	705	c.281T>C	c.(280-282)cTc>cCc	p.L94P	RNF146_ENST00000480444.1_3'UTR|RNF146_ENST00000309649.3_Missense_Mutation_p.L93P|RNF146_ENST00000608991.1_Missense_Mutation_p.L93P|RNF146_ENST00000356799.2_3'UTR|RNF146_ENST00000489534.1_3'UTR|RNF146_ENST00000610153.1_Missense_Mutation_p.L94P	NM_001242850.1|NM_001242851.1	NP_001229779.1|NP_001229780.1	Q9NTX7	RN146_HUMAN	ring finger protein 146	94	WWE.				positive regulation of canonical Wnt receptor signaling pathway|protein autoubiquitination|protein K48-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	cytosol	poly-ADP-D-ribose binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	10				GBM - Glioblastoma multiforme(226;0.0407)|all cancers(137;0.2)		CCAGAAGAACTCAAGGCAGCA	0.463													14	38					0	0	1	0	0	C	127608039	T	C	127608039	3	2	81	1	0	0	0	0	1	0	0	0	13500	1551	54	3	280	3	RNF146	6	127608039	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	238	127608039	43507028	5596	9212											
ECHDC1	55862	broad.mit.edu	37	6	127611167	127611167	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:127611167C>T	ENST00000531967.1	-	6	1274	c.771G>A	c.(769-771)ccG>ccA	p.P257P	ECHDC1_ENST00000368291.2_3'UTR|ECHDC1_ENST00000454591.2_Silent_p.P176P|ECHDC1_ENST00000528402.1_3'UTR|ECHDC1_ENST00000309620.9_Silent_p.P234P|ECHDC1_ENST00000474289.2_Silent_p.P251P|ECHDC1_ENST00000454859.3_Silent_p.P251P|ECHDC1_ENST00000430841.2_Silent_p.P251P|ECHDC1_ENST00000368289.2_3'UTR	NM_001139510.1	NP_001132982.1	Q9NTX5	ECHD1_HUMAN	enoyl CoA hydratase domain containing 1	257							catalytic activity			large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	4				GBM - Glioblastoma multiforme(226;0.0423)|all cancers(137;0.156)		TAATTACTTCCGGTGGCCCTT	0.398													49	81					0	0	1	0	0	T	127611167	C	T	127611167	2	4	81	1	0	0	0	0	0	0	0	1	4919	639	23	1		1	ECHDC1	6	127611167	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3128	127611167	43503900	5597	9213											
KIAA0408	9729	broad.mit.edu	37	6	127768259	127768259	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:127768259T>C	ENST00000483725.3	-	5	1541	c.1205A>G	c.(1204-1206)cAt>cGt	p.H402R	SOGA3_ENST00000556132.1_3'UTR|SOGA3_ENST00000481848.2_3'UTR	NM_014702.4	NP_055517.3	Q6ZU52	K0408_HUMAN	KIAA0408	402							protein binding			endometrium(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|skin(1)	28				GBM - Glioblastoma multiforme(226;0.0217)|all cancers(137;0.13)		AAGATCAGGATGAGATTTAGC	0.438													54	72					0	0	1	0	0	C	127768259	T	C	127768259	3	2	81	1	0	0	0	0	1	0	0	0	8216	1464	51	3	887	3	KIAA0408	6	127768259	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	157092	127768259	43346808	5598	9214											
PTPRK	5796	broad.mit.edu	37	6	128330384	128330384	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:128330384G>T	ENST00000368227.3	-	14	2590	c.2224C>A	c.(2224-2226)Cca>Aca	p.P742T	PTPRK_ENST00000524481.1_5'UTR|PTPRK_ENST00000368213.5_Missense_Mutation_p.P742T|PTPRK_ENST00000368215.3_Missense_Mutation_p.P741T|PTPRK_ENST00000368226.4_Missense_Mutation_p.P742T|PTPRK_ENST00000368210.3_Missense_Mutation_p.P742T|PTPRK_ENST00000368207.3_Missense_Mutation_p.P742T|PTPRK_ENST00000532331.1_Missense_Mutation_p.P742T			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	741					cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		GCGGGATCTGGGATCACTTCT	0.373													7	97					0.00448238	0.00470627	1	1	0	T	128330384	G	T	128330384	3	4	81	1	0	0	0	0	1	0	0	0	12857	1232	43	5	2188	5	PTPRK	6	128330384	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	562125	128330384	42784683	5599	9215											
LAMA2	3908	broad.mit.edu	37	6	129571302	129571302	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:129571302C>A	ENST00000421865.2	+	13	1877	c.1828C>A	c.(1828-1830)Ctt>Att	p.L610I		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	610	Laminin IV type A 1.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		ATCATATGACCTTGAAGAAGA	0.413													9	86					2.27111e-07	2.65192e-07	1	1	0	A	129571302	C	A	129571302	3	1	81	1	0	0	0	0	1	0	0	0	8645	681	24	4	1878	4	LAMA2	6	129571302	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1240918	129571302	41543765	5600	9216											
LAMA2	3908	broad.mit.edu	37	6	129573422	129573422	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:129573422G>A	ENST00000421865.2	+	14	2127	c.2078G>A	c.(2077-2079)gGg>gAg	p.G693E		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	693	Laminin IV type A 1.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		TACAGCTTTGGGATGGATGCC	0.448													3	56					0	0	1	0	0	A	129573422	G	A	129573422	3	1	81	1	0	0	0	0	1	0	0	0	8645	1232	43	2	2132	2	LAMA2	6	129573422	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2120	129573422	41541645	5601	9217											
LAMA2	3908	broad.mit.edu	37	6	129601266	129601266	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:129601266C>T	ENST00000421865.2	+	18	2560	c.2511C>T	c.(2509-2511)gtC>gtT	p.V837V		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	837	Laminin EGF-like 7.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		GATGCCCTGTCGGGTACACAG	0.453													13	30					0	0	1	0	0	T	129601266	C	T	129601266	2	4	81	1	0	0	0	0	0	0	0	1	8645	871	31	1		1	LAMA2	6	129601266	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	27844	129601266	41513801	5602	9218											
LAMA2	3908	broad.mit.edu	37	6	129724975	129724975	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:129724975T>C	ENST00000421865.2	+	40	5785	c.5736T>C	c.(5734-5736)gaT>gaC	p.D1912D		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1912	Domain II and I.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		GAATCCTTGATGAGGCTAAAA	0.398													24	50					0	0	1	0	0	C	129724975	T	C	129724975	2	2	81	1	0	0	0	0	0	0	0	1	8645	1461	51	3		3	LAMA2	6	129724975	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	123709	129724975	41390092	5603	9219											
LAMA2	3908	broad.mit.edu	37	6	129813206	129813206	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:129813206C>T	ENST00000421865.2	+	57	8108	c.8059C>T	c.(8059-8061)Ctt>Ttt	p.L2687F	LAMA2_ENST00000498257.1_3'UTR	NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	2687	Laminin G-like 3.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	p.L2687I(1)		NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		CATATGGAATCTTGTTATTAA	0.383													21	57					0	0	1	0	0	T	129813206	C	T	129813206	3	4	81	1	0	0	0	0	1	0	0	0	8645	913	32	2	8285	2	LAMA2	6	129813206	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	88231	129813206	41301861	5604	9220											
LAMA2	3908	broad.mit.edu	37	6	129835534	129835534	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:129835534A>G	ENST00000421865.2	+	64	9054	c.9005A>G	c.(9004-9006)gAc>gGc	p.D3002G		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	3002	Laminin G-like 5.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		TTTCATGTGGACAATGGTGCG	0.428													14	23					0	0	1	0	0	G	129835534	A	G	129835534	3	3	81	1	0	0	0	0	1	0	0	0	8645	275	10	3	9259	3	LAMA2	6	129835534	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	22328	129835534	41279533	5605	9221											
ARHGAP18	93663	broad.mit.edu	37	6	129959757	129959757	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:129959757C>T	ENST00000368149.2	-	3	422	c.334G>A	c.(334-336)Gag>Aag	p.E112K		NM_033515.2	NP_277050.2	Q8N392	RHG18_HUMAN	Rho GTPase activating protein 18	112					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			NS(2)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(3)	18				OV - Ovarian serous cystadenocarcinoma(136;0.0621)|GBM - Glioblastoma multiforme(226;0.0638)|all cancers(137;0.074)		TTAAGCCACTCTTCTTCCAAT	0.388													7	27					0	0	1	0	0	T	129959757	C	T	129959757	3	4	81	1	0	0	0	0	1	0	0	0	865	922	32	2	1709	2	ARHGAP18	6	129959757	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	124223	129959757	41155310	5606	9222											
L3MBTL3	84456	broad.mit.edu	37	6	130372423	130372423	+	Silent	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:130372423A>C	ENST00000529410.1	+	8	798	c.319A>C	c.(319-321)Agg>Cgg	p.R107R	L3MBTL3_ENST00000368139.2_Silent_p.R82R|L3MBTL3_ENST00000361794.2_Silent_p.R107R|L3MBTL3_ENST00000533560.1_Silent_p.R82R|L3MBTL3_ENST00000526019.1_Silent_p.R82R|L3MBTL3_ENST00000368136.2_Silent_p.R107R			Q96JM7	LMBL3_HUMAN	l(3)mbt-like 3 (Drosophila)	107					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|skin(4)|stomach(1)|urinary_tract(1)	43				GBM - Glioblastoma multiforme(226;0.0266)|OV - Ovarian serous cystadenocarcinoma(155;0.154)		GATGCCTTTCAGGTTGAAGGA	0.388													36	51					0	0	1	0	0	C	130372423	A	C	130372423	2	2	81	1	0	0	0	0	0	0	0	1	8632	179	7	5		5	L3MBTL3	6	130372423	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	412666	130372423	40742644	5607	9223											
EPB41L2	2037	broad.mit.edu	37	6	131225615	131225615	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:131225615C>A	ENST00000337057.3	-	6	1100	c.919G>T	c.(919-921)Gat>Tat	p.D307Y	EPB41L2_ENST00000525271.1_Missense_Mutation_p.D307Y|EPB41L2_ENST00000525193.1_Missense_Mutation_p.D307Y|EPB41L2_ENST00000530481.1_Missense_Mutation_p.D307Y|EPB41L2_ENST00000528282.1_Missense_Mutation_p.D307Y|EPB41L2_ENST00000392427.3_Missense_Mutation_p.D307Y|EPB41L2_ENST00000527659.1_Missense_Mutation_p.D307Y|EPB41L2_ENST00000445890.2_Missense_Mutation_p.D307Y|EPB41L2_ENST00000527411.1_Missense_Mutation_p.D307Y|EPB41L2_ENST00000368128.2_Missense_Mutation_p.D307Y|EPB41L2_ENST00000529208.1_Missense_Mutation_p.D307Y|EPB41L2_ENST00000530148.1_5'UTR	NM_001431.3	NP_001422.1	O43491	E41L2_HUMAN	erythrocyte membrane protein band 4.1-like 2	307	FERM.				cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		CTGGTGATATCTTCAGTCAAT	0.353													4	45					0.00024832	0.000269806	1	1	0	A	131225615	C	A	131225615	3	1	81	1	0	0	0	0	1	0	0	0	5181	913	32	4	2154	4	EPB41L2	6	131225615	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	853192	131225615	39889452	5608	9224											
AKAP7	9465	broad.mit.edu	37	6	131490380	131490380	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:131490380G>T	ENST00000431975.2	+	5	654	c.556G>T	c.(556-558)Gga>Tga	p.G186*	AKAP7_ENST00000368123.4_Nonsense_Mutation_p.G164*|AKAP7_ENST00000366358.2_Intron|AKAP7_ENST00000541650.1_Nonsense_Mutation_p.G185*	NM_016377.3	NP_057461.2	O43687	AKA7A_HUMAN	A kinase (PRKA) anchor protein 7	0					intracellular signal transduction|ion transport	apical plasma membrane|intracellular|lateral plasma membrane	protein kinase A binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|stomach(1)	13	Breast(56;0.152)			GBM - Glioblastoma multiforme(226;0.0184)|OV - Ovarian serous cystadenocarcinoma(155;0.0345)		GCTGGCAGAAGGAGATCATGT	0.383													18	129					0.000175454	0.000191485	1	1	0	T	131490380	G	T	131490380	4	4	81	1	0	0	0	0	0	1	0	0	453	1001	35	4	504	4	AKAP7	6	131490380	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	264765	131490380	39624687	5609	9225											
ARG1	383	broad.mit.edu	37	6	131904949	131904949	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:131904949T>C	ENST00000368087.3	+	8	1009	c.870T>C	c.(868-870)acT>acC	p.T290T	MED23_ENST00000354577.4_Intron|ARG1_ENST00000356962.2_Silent_p.T298T			P05089	ARGI1_HUMAN	arginase 1	290			T -> S (could be a polymorphism).		arginine catabolic process|urea cycle	cytosol	arginase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)|skin(3)	14	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0106)|OV - Ovarian serous cystadenocarcinoma(155;0.0713)	L-Ornithine(DB00129)	AAGAAGTAACTCGAACAGTGA	0.413													6	50					0	0	1	0	0	C	131904949	T	C	131904949	2	2	81	1	0	0	0	0	0	0	0	1	854	1538	54	3		3	ARG1	6	131904949	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	414569	131904949	39210118	5610	9226											
MED23	9439	broad.mit.edu	37	6	131929180	131929180	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:131929180T>G	ENST00000403834.3	-	12	1300	c.1127A>C	c.(1126-1128)gAt>gCt	p.D376A	MED23_ENST00000368053.4_Missense_Mutation_p.D376A|MED23_ENST00000368058.1_Missense_Mutation_p.D376A|MED23_ENST00000354577.4_Missense_Mutation_p.D376A|MED23_ENST00000368068.3_Missense_Mutation_p.D370A|MED23_ENST00000539158.1_Missense_Mutation_p.D370A|MED23_ENST00000368060.3_Missense_Mutation_p.D370A|MED23_ENST00000545957.1_Intron|MED23_ENST00000540546.1_Missense_Mutation_p.D376A			Q9ULK4	MED23_HUMAN	mediator complex subunit 23	370					regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor complex	protein binding|transcription coactivator activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	44	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)		CATAAGATGATCTCTGCCTTT	0.373													26	53					0	0	1	0	0	G	131929180	T	G	131929180	3	3	81	1	0	0	0	0	1	0	0	0	9491	1435	50	4	3076	4	MED23	6	131929180	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	24231	131929180	39185887	5611	9227											
ENPP1	5167	broad.mit.edu	37	6	132211485	132211485	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:132211485G>T	ENST00000360971.2	+	25	2632	c.2612G>T	c.(2611-2613)gGg>gTg	p.G871V		NM_006208.2	NP_006199.2	P22413	ENPP1_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 1	871	Nuclease.				3'-phosphoadenosine 5'-phosphosulfate metabolic process|biomineral tissue development|cellular phosphate ion homeostasis|cellular response to insulin stimulus|generation of precursor metabolites and energy|immune response|inorganic diphosphate transport|negative regulation of cell growth|negative regulation of fat cell differentiation|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of protein autophosphorylation|nucleoside triphosphate catabolic process|phosphate metabolic process|sequestering of triglyceride|water-soluble vitamin metabolic process	basolateral plasma membrane|cell surface|extracellular space|integral to membrane	ATP binding|insulin receptor binding|metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|protein homodimerization activity|scavenger receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(22)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	46	Breast(56;0.0505)			GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	Amifostine(DB01143)|Ribavirin(DB00811)	TCCTAGCATGGGAAGCATGAC	0.398													9	76					3.86212e-05	4.27865e-05	1	1	0	T	132211485	G	T	132211485	3	4	81	1	0	0	0	0	1	0	0	0	5157	1232	43	5	2710	5	ENPP1	6	132211485	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	282305	132211485	38903582	5612	9228											
CTGF	1490	broad.mit.edu	37	6	132270531	132270531	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:132270531G>T	ENST00000367976.3	-	5	1123	c.923C>A	c.(922-924)cCt>cAt	p.P308H		NM_001901.2	NP_001892	P29279	CTGF_HUMAN	connective tissue growth factor	308	CTCK.|Heparin-binding.				cellular lipid metabolic process|DNA replication|epidermis development|regulation of cell growth|response to wounding	plasma membrane|proteinaceous extracellular matrix	heparin binding|insulin-like growth factor binding			breast(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	13	Breast(56;0.0602)			GBM - Glioblastoma multiforme(226;0.015)|OV - Ovarian serous cystadenocarcinoma(155;0.0169)		CTCGCCGTCAGGGCACTTGAA	0.522													14	117					4.36969e-10	5.3233e-10	1	1	0	T	132270531	G	T	132270531	3	4	81	1	0	0	0	0	1	0	0	0	4032	1000	35	4	130	4	CTGF	6	132270531	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	59046	132270531	38844536	5613	9229											
MOXD1	26002	broad.mit.edu	37	6	132618927	132618927	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:132618927G>A	ENST00000367963.3	-	11	1794	c.1676C>T	c.(1675-1677)tCg>tTg	p.S559L	MOXD1_ENST00000336749.3_Splice_Site_p.S491L	NM_015529.2	NP_056344.2	Q6UVY6	MOXD1_HUMAN	monooxygenase, DBH-like 1	559					catecholamine metabolic process	endoplasmic reticulum membrane|integral to membrane	copper ion binding|dopamine beta-monooxygenase activity	p.S491L(1)|p.S559L(1)		breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(3)|skin(1)	37	Breast(56;0.0495)			OV - Ovarian serous cystadenocarcinoma(155;0.0132)|GBM - Glioblastoma multiforme(226;0.0191)		AGAGCTTACCGACCACTCAGC	0.418													29	44					0	0	1	0	0	A	132618927	G	A	132618927	5	1	81	1	0	0	0	0	0	0	1	0	9769	1072	37	1	173	1	MOXD1	6	132618927	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	348396	132618927	38496140	5614	9230											
MOXD1	26002	broad.mit.edu	37	6	132695805	132695805	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:132695805G>T	ENST00000367963.3	-	2	494	c.376C>A	c.(376-378)Ctg>Atg	p.L126M	MOXD1_ENST00000336749.3_Missense_Mutation_p.L58M	NM_015529.2	NP_056344.2	Q6UVY6	MOXD1_HUMAN	monooxygenase, DBH-like 1	126	DOMON.				catecholamine metabolic process	endoplasmic reticulum membrane|integral to membrane	copper ion binding|dopamine beta-monooxygenase activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(3)|skin(1)	37	Breast(56;0.0495)			OV - Ovarian serous cystadenocarcinoma(155;0.0132)|GBM - Glioblastoma multiforme(226;0.0191)		CATGTATGCAGCTCTCTGGTA	0.343													25	68					2.14196e-07	2.50434e-07	1	1	0	T	132695805	G	T	132695805	3	4	81	1	0	0	0	0	1	0	0	0	9769	962	34	4	1509	4	MOXD1	6	132695805	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	76878	132695805	38419262	5615	9231											
TAAR6	319100	broad.mit.edu	37	6	132892264	132892264	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:132892264G>A	ENST00000275198.1	+	1	804	c.804G>A	c.(802-804)atG>atA	p.M268I		NM_175067.1	NP_778237.1	Q96RI8	TAAR6_HUMAN	trace amine associated receptor 6	268						plasma membrane	G-protein coupled receptor activity			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(19)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.006)|GBM - Glioblastoma multiforme(226;0.00792)		TAGCATTTATGATTTCATGGT	0.418													23	43					0	0	1	0	0	A	132892264	G	A	132892264	3	1	81	1	0	0	0	0	1	0	0	0	15549	1290	45	2	806	2	TAAR6	6	132892264	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	196459	132892264	38222803	5616	9232											
TAAR5	9038	broad.mit.edu	37	6	132910361	132910361	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:132910361G>T	ENST00000258034.2	-	1	516	c.465C>A	c.(463-465)atC>atA	p.I155I		NM_003967.2	NP_003958.2	O14804	TAAR5_HUMAN	trace amine associated receptor 5	155					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	32	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.00604)|GBM - Glioblastoma multiforme(226;0.015)		ATCCTGCCAGGATGTACCTGA	0.542													4	54					0.00909568	0.00944708	1	1	0	T	132910361	G	T	132910361	2	4	81	1	0	0	0	0	0	0	0	1	15548	1164	41	5		5	TAAR5	6	132910361	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	18097	132910361	38204706	5617	9233											
RPS12	6206	broad.mit.edu	37	6	133138166	133138166	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:133138166G>A	ENST00000230050.3	+	5	512	c.302G>A	c.(301-303)cGt>cAt	p.R101H		NM_001016.3	NP_001007.2	P25398	RS12_HUMAN	ribosomal protein S12	101					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit	structural constituent of ribosome			endometrium(1)|kidney(13)|lung(3)|urinary_tract(1)	18	Breast(56;0.214)			OV - Ovarian serous cystadenocarcinoma(155;0.00284)|GBM - Glioblastoma multiforme(226;0.0256)		GGGAAACCCCGTAAAGTGGTT	0.373													24	38					0	0	1	0	0	A	133138166	G	A	133138166	3	1	81	1	0	0	0	0	1	0	0	0	13674	1145	40	1	316	1	RPS12	6	133138166	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	227805	133138166	37976901	5618	9234											
TCF21	6943	broad.mit.edu	37	6	134210781	134210781	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:134210781C>T	ENST00000367882.4	+	1	506	c.246C>T	c.(244-246)aaC>aaT	p.N82N	RP3-323P13.2_ENST00000607573.1_RNA|TCF21_ENST00000237316.3_Silent_p.N82N	NM_003206.3	NP_003197.2	O43680	TCF21_HUMAN	transcription factor 21	82					branching involved in ureteric bud morphogenesis|mesoderm development|negative regulation of androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent	nucleus	androgen receptor binding|E-box binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity	p.N82N(1)		cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	13	Colorectal(23;0.221)|Breast(56;0.247)			GBM - Glioblastoma multiforme(68;0.00518)|OV - Ovarian serous cystadenocarcinoma(155;0.00783)		TCCAGCGCAACGCCGCCAACG	0.701													14	26					0	0	1	0	0	T	134210781	C	T	134210781	2	4	81	1	0	0	0	0	0	0	0	1	15751	535	19	1		1	TCF21	6	134210781	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1072615	134210781	36904286	5619	9235											
TBPL1	9519	broad.mit.edu	37	6	134301387	134301387	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:134301387C>T	ENST00000237264.4	+	2	399	c.124C>T	c.(124-126)Cgt>Tgt	p.R42C	TBPL1_ENST00000367871.1_Missense_Mutation_p.R42C	NM_001253676.1|NM_004865.3	NP_001240605.1|NP_004856.1	P62380	TBPL1_HUMAN	TBP-like 1	42					regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase II promoter	cytoplasm	DNA binding|protein binding|transcription coactivator activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	6	Colorectal(23;0.221)|Breast(56;0.247)			GBM - Glioblastoma multiforme(68;0.00591)|OV - Ovarian serous cystadenocarcinoma(155;0.00848)		AATTTATAAACGTGATGTTGG	0.289													30	70					0	0	1	0	0	T	134301387	C	T	134301387	3	4	81	1	0	0	0	0	1	0	0	0	15705	536	19	1	126	1	TBPL1	6	134301387	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	90606	134301387	36813680	5620	9236											
SLC2A12	154091	broad.mit.edu	37	6	134323202	134323202	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:134323202C>T	ENST00000275230.5	-	4	1788	c.1633G>A	c.(1633-1635)Gtt>Att	p.V545I		NM_145176.2	NP_660159.1	Q8TD20	GTR12_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 12	545						endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity			NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	17	Breast(56;0.214)|Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.0101)|GBM - Glioblastoma multiforme(68;0.0123)		AACATAACAACAAAAAGCAGG	0.348													6	82					0	0	1	0	0	T	134323202	C	T	134323202	3	4	81	1	0	0	0	0	1	0	0	0	14596	478	17	2	228	2	SLC2A12	6	134323202	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	21815	134323202	36791865	5621	9237											
SLC2A12	154091	broad.mit.edu	37	6	134350230	134350230	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:134350230C>A	ENST00000275230.5	-	2	888	c.733G>T	c.(733-735)Gat>Tat	p.D245Y		NM_145176.2	NP_660159.1	Q8TD20	GTR12_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 12	245						endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity			NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	17	Breast(56;0.214)|Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.0101)|GBM - Glioblastoma multiforme(68;0.0123)		TCAGTTGTATCTGAGAGTGCT	0.443													25	56					1.16021e-09	1.40594e-09	1	1	0	A	134350230	C	A	134350230	3	1	81	1	0	0	0	0	1	0	0	0	14596	913	32	4	1136	4	SLC2A12	6	134350230	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	27028	134350230	36764837	5622	9238											
SLC2A12	154091	broad.mit.edu	37	6	134350472	134350472	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:134350472C>A	ENST00000275230.5	-	2	646	c.491G>T	c.(490-492)aGa>aTa	p.R164I		NM_145176.2	NP_660159.1	Q8TD20	GTR12_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 12	164						endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity			NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	17	Breast(56;0.214)|Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.0101)|GBM - Glioblastoma multiforme(68;0.0123)		AAGAAGGCCTCTTCTGTGTTG	0.458													14	73					1.5739e-10	1.93127e-10	1	1	0	A	134350472	C	A	134350472	3	1	81	1	0	0	0	0	1	0	0	0	14596	913	32	4	1378	4	SLC2A12	6	134350472	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	242	134350472	36764595	5623	9239											
SGK1	6446	broad.mit.edu	37	6	134491471	134491471	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:134491471C>T	ENST00000367858.5	-	14	2113	c.1516G>A	c.(1516-1518)Gtc>Atc	p.V506I	SGK1_ENST00000237305.7_Missense_Mutation_p.V411I|SGK1_ENST00000475719.2_Missense_Mutation_p.V367I|SGK1_ENST00000367857.5_Missense_Mutation_p.V401I|SGK1_ENST00000413996.3_Missense_Mutation_p.V425I|SGK1_ENST00000528577.1_Missense_Mutation_p.V439I	NM_001143676.1	NP_001137148.1	O00141	SGK1_HUMAN	serum/glucocorticoid regulated kinase 1	411					apoptosis|response to stress|sodium ion transport	endoplasmic reticulum|nucleus|plasma membrane	ATP binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(21)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(4)|stomach(1)	46	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00317)|GBM - Glioblastoma multiforme(68;0.00847)		GCTTCCTTGACGCTGGCTGTG	0.552													14	13					0	0	1	0	0	T	134491471	C	T	134491471	3	4	81	1	0	0	0	0	1	0	0	0	14261	536	19	1	68	1	SGK1	6	134491471	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	140999	134491471	36623596	5624	9240											
SGK1	6446	broad.mit.edu	37	6	134493435	134493435	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:134493435T>C	ENST00000367858.5	-	10	1564	c.967A>G	c.(967-969)Att>Gtt	p.I323V	SGK1_ENST00000237305.7_Missense_Mutation_p.I228V|SGK1_ENST00000475719.2_Missense_Mutation_p.I184V|SGK1_ENST00000367857.5_Missense_Mutation_p.I218V|SGK1_ENST00000413996.3_Missense_Mutation_p.I242V|SGK1_ENST00000489458.2_5'UTR|SGK1_ENST00000528577.1_Missense_Mutation_p.I256V	NM_001143676.1	NP_001137148.1	O00141	SGK1_HUMAN	serum/glucocorticoid regulated kinase 1	228	Protein kinase.				apoptosis|response to stress|sodium ion transport	endoplasmic reticulum|nucleus|plasma membrane	ATP binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(21)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(4)|stomach(1)	46	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00317)|GBM - Glioblastoma multiforme(68;0.00847)		TCTAGCAAAATATTCTCTGGT	0.383													44	87					0	0	1	0	0	C	134493435	T	C	134493435	3	2	81	1	0	0	0	0	1	0	0	0	14261	1406	49	3	633	3	SGK1	6	134493435	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	1964	134493435	36621632	5625	9241											
SGK1	6446	broad.mit.edu	37	6	134583151	134583151	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:134583151G>T	ENST00000367858.5	-	2	802	c.205C>A	c.(205-207)Ctg>Atg	p.L69M	SGK1_ENST00000524929.1_Missense_Mutation_p.L69M	NM_001143676.1	NP_001137148.1	O00141	SGK1_HUMAN	serum/glucocorticoid regulated kinase 1	0					apoptosis|response to stress|sodium ion transport	endoplasmic reticulum|nucleus|plasma membrane	ATP binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(21)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(4)|stomach(1)	46	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00317)|GBM - Glioblastoma multiforme(68;0.00847)		TGTTCACCCAGGCATGTTTGA	0.527													10	119					0.0581538	0.0592525	1	1	0	T	134583151	G	T	134583151	3	4	81	1	0	0	0	0	1	0	0	0	14261	991	35	4	1793	4	SGK1	6	134583151	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	89716	134583151	36531916	5626	9242											
ALDH8A1	64577	broad.mit.edu	37	6	135250346	135250346	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:135250346A>C	ENST00000265605.2	-	6	925	c.857T>G	c.(856-858)aTc>aGc	p.I286S	ALDH8A1_ENST00000367847.2_Missense_Mutation_p.I236S|ALDH8A1_ENST00000367845.2_Intron	NM_022568.3	NP_072090.1	Q9H2A2	AL8A1_HUMAN	aldehyde dehydrogenase 8 family, member A1	286					retinal metabolic process	cytoplasm	retinal dehydrogenase activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	36	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00401)|GBM - Glioblastoma multiforme(68;0.0058)		ACAGAGACAGATTTCACCCTG	0.463													14	21					0	0	1	0	0	C	135250346	A	C	135250346	3	2	81	1	0	0	0	0	1	0	0	0	502	333	12	4	614	4	ALDH8A1	6	135250346	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	667195	135250346	35864721	5627	9243											
MYB	4602	broad.mit.edu	37	6	135515004	135515004	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:135515004C>T	ENST00000341911.5	+	7	990	c.791C>T	c.(790-792)gCg>gTg	p.A264V	MYB_ENST00000442647.2_Missense_Mutation_p.A264V|MYB_ENST00000533624.1_Missense_Mutation_p.A264V|MYB_ENST00000534121.1_Missense_Mutation_p.A264V|MYB_ENST00000531845.1_3'UTR|MYB_ENST00000316528.8_Missense_Mutation_p.A264V|MYB_ENST00000534044.1_Missense_Mutation_p.A264V|MYB_ENST00000367814.4_Missense_Mutation_p.A264V|MYB_ENST00000528774.1_Missense_Mutation_p.A264V|MYB_ENST00000527615.1_Missense_Mutation_p.A264V|MYB_ENST00000420123.2_Missense_Mutation_p.A240V|MYB_ENST00000525369.1_Missense_Mutation_p.A264V	NM_001130173.1|NM_001161656.1|NM_001161658.1	NP_001123645.1|NP_001155128.1|NP_001155130.1	P10242	MYB_HUMAN	v-myb avian myeloblastosis viral oncogene homolog	264					blood coagulation|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of histone H3-K4 methylation|positive regulation of histone H3-K9 methylation|positive regulation of T-helper cell differentiation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear matrix	DNA binding|protein binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	all_epithelial(2;0.109)|Breast(56;0.158)|Colorectal(23;0.221)	Lung NSC(302;3.08e-05)|Ovarian(999;0.208)		OV - Ovarian serous cystadenocarcinoma(155;0.0079)|GBM - Glioblastoma multiforme(68;0.0117)		TACCCTGTAGCGTTACATGTA	0.448			T	NFIB	adenoid cystic carcinoma								37	60					0	0	1	0	0	T	135515004	C	T	135515004	3	4	81	1	0	0	0	0	1	0	0	0	10055	768	27	1	817	1	MYB	6	135515004	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	264658	135515004	35600063	5628	9244											
MYB	4602	broad.mit.edu	37	6	135518458	135518458	+	Silent	SNP	G	G	A	rs55983257		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:135518458G>A	ENST00000341911.5	+	10	1762	c.1563G>A	c.(1561-1563)tcG>tcA	p.S521S	MYB_ENST00000442647.2_Intron|MYB_ENST00000533624.1_Intron|MYB_ENST00000534121.1_Silent_p.S505S|MYB_ENST00000531845.1_Intron|MYB_ENST00000316528.8_Intron|MYB_ENST00000534044.1_Intron|MYB_ENST00000367814.4_Intron|MYB_ENST00000528774.1_Silent_p.S518S|MYB_ENST00000527615.1_Intron|MYB_ENST00000525369.1_Intron	NM_001130173.1|NM_001161656.1|NM_001161658.1	NP_001123645.1|NP_001155128.1|NP_001155130.1	P10242	MYB_HUMAN	v-myb avian myeloblastosis viral oncogene homolog	468					blood coagulation|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of histone H3-K4 methylation|positive regulation of histone H3-K9 methylation|positive regulation of T-helper cell differentiation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear matrix	DNA binding|protein binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	all_epithelial(2;0.109)|Breast(56;0.158)|Colorectal(23;0.221)	Lung NSC(302;3.08e-05)|Ovarian(999;0.208)		OV - Ovarian serous cystadenocarcinoma(155;0.0079)|GBM - Glioblastoma multiforme(68;0.0117)		TCTCTCCCTCGCAGGTAGAAC	0.453			T	NFIB	adenoid cystic carcinoma								22	29					0	0	1	0	0	A	135518458	G	A	135518458	2	1	81	1	0	0	0	0	0	0	0	1	10055	1074	38	1		1	MYB	6	135518458	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	3454	135518458	35596609	5629	9245											
AHI1	54806	broad.mit.edu	37	6	135732581	135732581	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:135732581G>A	ENST00000367800.4	-	19	3082	c.2866C>T	c.(2866-2868)Ccc>Tcc	p.P956S	AHI1_ENST00000327035.6_Missense_Mutation_p.P956S|AHI1_ENST00000417892.2_Missense_Mutation_p.P310S|AHI1_ENST00000457866.2_Missense_Mutation_p.P956S	NM_001134830.1	NP_001128302.1	Q8N157	AHI1_HUMAN	Abelson helper integration site 1	956						adherens junction|cilium|microtubule basal body				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)	37	Breast(56;0.239)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)		CCTTGATGGGGTAGTTTTGGA	0.428													29	57					0	0	1	0	0	A	135732581	G	A	135732581	3	1	81	1	0	0	0	0	1	0	0	0	410	1261	44	2	817	2	AHI1	6	135732581	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	214123	135732581	35382486	5630	9246											
AHI1	54806	broad.mit.edu	37	6	135787489	135787489	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:135787489A>T	ENST00000367800.4	-	5	428	c.212T>A	c.(211-213)cTt>cAt	p.L71H	AHI1_ENST00000327035.6_Missense_Mutation_p.L71H|AHI1_ENST00000457866.2_Missense_Mutation_p.L71H	NM_001134830.1	NP_001128302.1	Q8N157	AHI1_HUMAN	Abelson helper integration site 1	71						adherens junction|cilium|microtubule basal body		p.L71P(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)	37	Breast(56;0.239)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)		AATATGGGGAAGATTGCTTCT	0.328													8	200					0	0	1	0	0	T	135787489	A	T	135787489	3	4	81	1	0	0	0	0	1	0	0	0	410	72	3	5	3527	5	AHI1	6	135787489	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	54908	135787489	35327578	5631	9247											
AHI1	54806	broad.mit.edu	37	6	135788751	135788751	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:135788751G>T	ENST00000367800.4	-	4	373	c.157C>A	c.(157-159)Ctt>Att	p.L53I	AHI1_ENST00000327035.6_Missense_Mutation_p.L53I|AHI1_ENST00000457866.2_Missense_Mutation_p.L53I	NM_001134830.1	NP_001128302.1	Q8N157	AHI1_HUMAN	Abelson helper integration site 1	53						adherens junction|cilium|microtubule basal body				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)	37	Breast(56;0.239)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)		ATATAGTGAAGATTGCTTCTA	0.328													8	25					3.09899e-07	3.60815e-07	1	1	0	T	135788751	G	T	135788751	3	4	81	1	0	0	0	0	1	0	0	0	410	942	33	4	3586	4	AHI1	6	135788751	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1262	135788751	35326316	5632	9248											
PDE7B	27115	broad.mit.edu	37	6	136495026	136495026	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:136495026C>T	ENST00000308191.6	+	9	1106	c.803C>T	c.(802-804)aCa>aTa	p.T268I	RP13-143G15.4_ENST00000591521.1_RNA|RP13-143G15.4_ENST00000417643.1_RNA|RP13-143G15.4_ENST00000585946.1_RNA	NM_018945.3	NP_061818.1	Q9NP56	PDE7B_HUMAN	phosphodiesterase 7B	268	Catalytic (By similarity).				signal transduction|synaptic transmission	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding	p.T268I(1)		breast(1)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Colorectal(23;0.24)			OV - Ovarian serous cystadenocarcinoma(155;0.0136)|GBM - Glioblastoma multiforme(68;0.0147)	Dyphylline(DB00651)|Ketotifen(DB00920)	AAGGAAATGACGTAAGTGCTG	0.458													22	36					0	0	1	0	0	T	136495026	C	T	136495026	5	4	81	1	0	0	0	0	0	0	1	0	11699	550	19	1	837	1	PDE7B	6	136495026	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	706275	136495026	34620041	5633	9249											
BCLAF1	9774	broad.mit.edu	37	6	136582540	136582540	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:136582540C>A	ENST00000531224.1	-	12	2872	c.2620G>T	c.(2620-2622)Ggg>Tgg	p.G874W	BCLAF1_ENST00000527759.1_Missense_Mutation_p.G872W|BCLAF1_ENST00000392348.2_Missense_Mutation_p.G823W|BCLAF1_ENST00000529917.1_5'UTR|BCLAF1_ENST00000353331.4_Missense_Mutation_p.G823W|BCLAF1_ENST00000530767.1_Missense_Mutation_p.G701W|BCLAF1_ENST00000031135.9_Missense_Mutation_p.G92W|BCLAF1_ENST00000527536.1_Missense_Mutation_p.G825W	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	874					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		TTAAAGCGCCCTCTGCCACGT	0.423													57	254					9.72345e-25	1.28446e-24	1	1	0	A	136582540	C	A	136582540	3	1	81	1	0	0	0	0	1	0	0	0	1381	681	24	4	150	4	BCLAF1	6	136582540	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	87514	136582540	34532527	5634	9250											
MAP7	9053	broad.mit.edu	37	6	136698913	136698913	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:136698913G>T	ENST00000354570.3	-	7	1141	c.731C>A	c.(730-732)gCt>gAt	p.A244D	MAP7_ENST00000432797.2_Missense_Mutation_p.A98D|MAP7_ENST00000544465.1_Missense_Mutation_p.A229D|MAP7_ENST00000438100.2_Missense_Mutation_p.A229D|MAP7_ENST00000454590.1_Missense_Mutation_p.A266D	NM_001198616.1|NM_001198617.1|NM_001198619.1|NM_003980.4	NP_001185545.1|NP_001185546.1|NP_001185548.1|NP_003971.1	Q14244	MAP7_HUMAN	microtubule-associated protein 7	244					establishment or maintenance of cell polarity|microtubule cytoskeleton organization|protein localization in plasma membrane|response to osmotic stress	basolateral plasma membrane|microtubule|microtubule associated complex|nucleus|perinuclear region of cytoplasm	receptor binding|structural molecule activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(11)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643)		AGACAAGGCAGCTGTGCTTTT	0.517													22	15					5.45024e-15	6.94259e-15	1	1	0	T	136698913	G	T	136698913	3	4	81	1	0	0	0	0	1	0	0	0	9316	971	34	4	1566	4	MAP7	6	136698913	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	116373	136698913	34416154	5635	9251											
PEX7	5191	broad.mit.edu	37	6	137193348	137193348	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:137193348C>A	ENST00000318471.4	+	8	841	c.760C>A	c.(760-762)Cat>Aat	p.H254N	PEX7_ENST00000541292.1_3'UTR	NM_000288.3	NP_000279.1	O00628	PEX7_HUMAN	peroxisomal biogenesis factor 7	254					ether lipid biosynthetic process|protein import into peroxisome matrix	peroxisome	peroxisome matrix targeting signal-2 binding			lung(7)|prostate(1)	8	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000257)|OV - Ovarian serous cystadenocarcinoma(155;0.00492)		TTCACCATTTCATGCTTCTGT	0.318													36	60					1.36161e-19	1.77385e-19	1	1	0	A	137193348	C	A	137193348	3	1	81	1	0	0	0	0	1	0	0	0	11799	826	29	5	790	5	PEX7	6	137193348	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	494435	137193348	33921719	5636	9252											
SLC35D3	340146	broad.mit.edu	37	6	137245552	137245552	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:137245552G>A	ENST00000331858.4	+	2	1134	c.969G>A	c.(967-969)gcG>gcA	p.A323A		NM_001008783.1	NP_001008783.1	Q5M8T2	S35D3_HUMAN	solute carrier family 35, member D3	323					carbohydrate transport	integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	13	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000136)|OV - Ovarian serous cystadenocarcinoma(155;0.00365)		GAGAGGAGGCGCAGCTAAGTG	0.622													10	13					0	0	1	0	0	A	137245552	G	A	137245552	2	1	81	1	0	0	0	0	0	0	0	1	14638	1074	38	1		1	SLC35D3	6	137245552	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	52204	137245552	33869515	5637	9253											
IL20RA	53832	broad.mit.edu	37	6	137330486	137330486	+	Missense_Mutation	SNP	C	C	T	rs143005532	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:137330486C>T	ENST00000367748.1	-	3	800	c.214G>A	c.(214-216)Gtg>Atg	p.V72M	IL20RA_ENST00000316649.5_Missense_Mutation_p.V183M|IL20RA_ENST00000468393.1_5'UTR|IL20RA_ENST00000367746.3_Missense_Mutation_p.V183M|IL20RA_ENST00000541547.1_Missense_Mutation_p.V134M	NM_001278723.1	NP_001265652.1	Q9UHF4	I20RA_HUMAN	interleukin 20 receptor, alpha	183	Fibronectin type-III 1.					integral to membrane	receptor activity			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000351)|OV - Ovarian serous cystadenocarcinoma(155;0.00459)		AACACAGACACGTTATACTTC	0.418													35	79					0	0	1	0	0	T	137330486	C	T	137330486	3	4	81	1	0	0	0	0	1	0	0	0	7712	536	19	1	1130	1	IL20RA	6	137330486	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	84934	137330486	33784581	5638	9254											
IL20RA	53832	broad.mit.edu	37	6	137338236	137338236	+	Translation_Start_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:137338236G>T	ENST00000367748.1	-	0	525				IL20RA_ENST00000316649.5_Silent_p.P31P|IL20RA_ENST00000468393.1_5'UTR|IL20RA_ENST00000367746.3_Silent_p.P31P|IL20RA_ENST00000541547.1_De_novo_Start_OutOfFrame	NM_001278723.1	NP_001265652.1	Q9UHF4	I20RA_HUMAN	interleukin 20 receptor, alpha							integral to membrane	receptor activity			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000351)|OV - Ovarian serous cystadenocarcinoma(155;0.00459)		CAGAGACACAGGGAACTGAAA	0.463													12	18					5.50884e-06	6.24461e-06	1	1	0	T	137338236	G	T	137338236	1	4	81	1	0	0	0	0	0	0	0	0	7712	987	35	4		4	IL20RA	6	137338236	Translation_Start_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	7750	137338236	33776831	5639	9255											
KIAA1244	57221	broad.mit.edu	37	6	138576703	138576703	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:138576703C>A	ENST00000251691.4	+	10	1067	c.901C>A	c.(901-903)Cac>Aac	p.H301N		NM_020340.4	NP_065073.3	Q5TH69	BIG3_HUMAN	KIAA1244	301					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		AGTGTCTGACCACGGCCGAGG	0.617													6	60					0.00198382	0.00209725	1	1	0	A	138576703	C	A	138576703	3	1	81	1	0	0	0	0	1	0	0	0	8259	594	21	5	939	5	KIAA1244	6	138576703	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1238467	138576703	32538364	5640	9256											
KIAA1244	57221	broad.mit.edu	37	6	138584261	138584261	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:138584261G>A	ENST00000251691.4	+	12	1807	c.1641G>A	c.(1639-1641)acG>acA	p.T547T		NM_020340.4	NP_065073.3	Q5TH69	BIG3_HUMAN	KIAA1244	547					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		GTAAGGAGACGCTGAGCAAAG	0.542													6	22					0	0	1	0	0	A	138584261	G	A	138584261	2	1	81	1	0	0	0	0	0	0	0	1	8259	1074	38	1		1	KIAA1244	6	138584261	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	7558	138584261	32530806	5641	9257											
KIAA1244	57221	broad.mit.edu	37	6	138599732	138599732	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:138599732C>T	ENST00000251691.4	+	13	2439	c.2273C>T	c.(2272-2274)cCg>cTg	p.P758L		NM_020340.4	NP_065073.3	Q5TH69	BIG3_HUMAN	KIAA1244	758	SEC7.				regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		AGGAAGCGGCCGACCCTGGCG	0.607													30	42					0	0	1	0	0	T	138599732	C	T	138599732	3	4	81	1	0	0	0	0	1	0	0	0	8259	652	23	1	2323	1	KIAA1244	6	138599732	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	15471	138599732	32515335	5642	9258											
ECT2L	345930	broad.mit.edu	37	6	139164158	139164158	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:139164158C>A	ENST00000423192.1	+	5	546	c.385C>A	c.(385-387)Ctg>Atg	p.L129M	ECT2L_ENST00000541398.1_Missense_Mutation_p.L60M|ECT2L_ENST00000367682.2_Missense_Mutation_p.L129M			Q008S8	ECT2L_HUMAN	epithelial cell transforming sequence 2 oncogene-like	129					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(1)	30						CGGATGGTTTCTGCCCTATAC	0.448			"N, Splice, Mis"		ETP ALL								7	75					0.00448238	0.00470627	1	1	0	A	139164158	C	A	139164158	3	1	81	1	0	0	0	0	1	0	0	0	4928	912	32	4	399	4	ECT2L	6	139164158	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	564426	139164158	31950909	5643	9259											
ECT2L	345930	broad.mit.edu	37	6	139164320	139164320	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:139164320G>T	ENST00000423192.1	+	5	708	c.547G>T	c.(547-549)Gaa>Taa	p.E183*	ECT2L_ENST00000541398.1_Nonsense_Mutation_p.E114*|ECT2L_ENST00000367682.2_Nonsense_Mutation_p.E183*			Q008S8	ECT2L_HUMAN	epithelial cell transforming sequence 2 oncogene-like	183					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(1)	30						GAGACAAAGAGAAAAGTGCCT	0.408			"N, Splice, Mis"		ETP ALL								30	38					6.04164e-23	7.94791e-23	1	1	0	T	139164320	G	T	139164320	4	4	81	1	0	0	0	0	0	1	0	0	4928	943	33	4	561	4	ECT2L	6	139164320	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	162	139164320	31950747	5644	9260											
ECT2L	345930	broad.mit.edu	37	6	139202188	139202188	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:139202188T>G	ENST00000423192.1	+	14	1921	c.1760T>G	c.(1759-1761)aTt>aGt	p.I587S	ECT2L_ENST00000541398.1_Missense_Mutation_p.I518S|ECT2L_ENST00000367682.2_Missense_Mutation_p.I587S			Q008S8	ECT2L_HUMAN	epithelial cell transforming sequence 2 oncogene-like	587	DH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(1)	30						ATACTGGAAATTGTGAGAGAT	0.428			"N, Splice, Mis"		ETP ALL								5	33					0	0	1	0	0	G	139202188	T	G	139202188	3	3	81	1	0	0	0	0	1	0	0	0	4928	1493	52	4	1810	4	ECT2L	6	139202188	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	37868	139202188	31912879	5645	9261											
ECT2L	345930	broad.mit.edu	37	6	139222212	139222212	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:139222212G>T	ENST00000423192.1	+	20	2703	c.2542G>T	c.(2542-2544)Gtg>Ttg	p.V848L	ECT2L_ENST00000541398.1_Missense_Mutation_p.V702L|ECT2L_ENST00000367682.2_Missense_Mutation_p.V848L			Q008S8	ECT2L_HUMAN	epithelial cell transforming sequence 2 oncogene-like	848					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(1)	30						CATTGCATCAGTGGCCCTTCA	0.408			"N, Splice, Mis"		ETP ALL								7	86					3.09899e-07	3.60815e-07	1	1	0	T	139222212	G	T	139222212	3	4	81	1	0	0	0	0	1	0	0	0	4928	1029	36	4	2616	4	ECT2L	6	139222212	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	20024	139222212	31892855	5646	9262											
REPS1	85021	broad.mit.edu	37	6	139266781	139266781	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:139266781G>A	ENST00000450536.2	-	3	905	c.331C>T	c.(331-333)Cgc>Tgc	p.R111C	REPS1_ENST00000258062.5_Missense_Mutation_p.R111C|REPS1_ENST00000409812.2_Missense_Mutation_p.R111C|REPS1_ENST00000367663.4_Missense_Mutation_p.R111C|REPS1_ENST00000415951.2_Missense_Mutation_p.R111C			Q96D71	REPS1_HUMAN	RALBP1 associated Eps domain containing 1	111	EH 1.					coated pit|plasma membrane	calcium ion binding|SH3 domain binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	19				GBM - Glioblastoma multiforme(68;0.000434)|OV - Ovarian serous cystadenocarcinoma(155;0.000548)		GCTGCATGGCGAGATTCCTGT	0.413													39	70					0	0	1	0	0	A	139266781	G	A	139266781	3	1	81	1	0	0	0	0	1	0	0	0	13280	1058	37	1	2131	1	REPS1	6	139266781	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	44569	139266781	31848286	5647	9263											
REPS1	85021	broad.mit.edu	37	6	139269016	139269016	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:139269016T>C	ENST00000450536.2	-	2	762	c.188A>G	c.(187-189)tAt>tGt	p.Y63C	REPS1_ENST00000258062.5_Missense_Mutation_p.Y63C|REPS1_ENST00000409812.2_Missense_Mutation_p.Y63C|REPS1_ENST00000367663.4_Missense_Mutation_p.Y63C|REPS1_ENST00000415951.2_Missense_Mutation_p.Y63C			Q96D71	REPS1_HUMAN	RALBP1 associated Eps domain containing 1	63	EH 1.					coated pit|plasma membrane	calcium ion binding|SH3 domain binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	19				GBM - Glioblastoma multiforme(68;0.000434)|OV - Ovarian serous cystadenocarcinoma(155;0.000548)		TCTTCCAAAATAACCAAGTCT	0.338													19	30					0	0	1	0	0	C	139269016	T	C	139269016	3	2	81	1	0	0	0	0	1	0	0	0	13280	1406	49	3	2278	3	REPS1	6	139269016	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	2235	139269016	31846051	5648	9264											
HECA	51696	broad.mit.edu	37	6	139487642	139487642	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:139487642A>G	ENST00000367658.2	+	2	778	c.493A>G	c.(493-495)Aca>Gca	p.T165A	RP1-225E12.2_ENST00000586266.1_RNA|RP1-225E12.3_ENST00000585874.1_RNA|RP1-225E12.2_ENST00000588529.1_RNA|RP1-225E12.2_ENST00000589192.1_RNA|RP1-225E12.2_ENST00000415194.2_RNA|RP1-225E12.2_ENST00000586229.1_RNA|RP1-225E12.2_ENST00000588638.1_RNA|RP1-225E12.2_ENST00000590679.1_RNA|RP1-225E12.2_ENST00000587577.1_RNA	NM_016217.2	NP_057301.1	Q9UBI9	HDC_HUMAN	headcase homolog (Drosophila)	165					respiratory tube development					endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)	15				GBM - Glioblastoma multiforme(68;0.000252)|OV - Ovarian serous cystadenocarcinoma(155;0.000387)		GAACATGTGGACAAAGAAGGG	0.592													34	49					0	0	1	0	0	G	139487642	A	G	139487642	3	3	81	1	0	0	0	0	1	0	0	0	7079	275	10	3	499	3	HECA	6	139487642	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	218626	139487642	31627425	5649	9265											
CITED2	10370	broad.mit.edu	37	6	139694780	139694780	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:139694780G>A	ENST00000367651.2	-	2	517	c.302C>T	c.(301-303)cCc>cTc	p.P101L	CITED2_ENST00000537332.1_Missense_Mutation_p.P101L|CITED2_ENST00000536159.1_Missense_Mutation_p.P101L	NM_006079.4	NP_006070.2	Q99967	CITE2_HUMAN	Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2	101					adrenal cortex formation|anti-apoptosis|cell proliferation|determination of left/right symmetry|heart development|liver development|negative regulation of cell migration|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cell cycle|positive regulation of cell-cell adhesion|positive regulation of male gonad development|positive regulation of peroxisome proliferator activated receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of organ formation|response to estrogen stimulus|response to fluid shear stress|response to hypoxia|sex determination	cytoplasm|nuclear chromatin|nucleus	chromatin binding|LBD domain binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity			large_intestine(1)|lung(4)	5	Breast(32;0.226)			GBM - Glioblastoma multiforme(68;0.000171)|OV - Ovarian serous cystadenocarcinoma(155;0.00134)		GGCCACCGGGGGACCCATGAA	0.657													16	19					0	0	1	0	0	A	139694780	G	A	139694780	3	1	81	1	0	0	0	0	1	0	0	0	3463	1232	43	2	514	2	CITED2	6	139694780	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	207138	139694780	31420287	5650	9266											
NMBR	4829	broad.mit.edu	37	6	142397024	142397024	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:142397024G>T	ENST00000258042.1	-	3	1074	c.934C>A	c.(934-936)Ctc>Atc	p.L312I	NMBR_ENST00000480652.1_5'UTR	NM_002511.2	NP_002502.2	P28336	NMBR_HUMAN	neuromedin B receptor	312					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	cytoplasm|integral to plasma membrane	bombesin receptor activity			breast(2)|central_nervous_system(3)|endometrium(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23	Breast(32;0.155)			OV - Ovarian serous cystadenocarcinoma(155;9.93e-06)|GBM - Glioblastoma multiforme(68;0.0013)		CCAAAACTGAGAACCCGGGCA	0.443													26	40					7.92952e-12	9.86359e-12	1	1	0	T	142397024	G	T	142397024	3	4	81	1	0	0	0	0	1	0	0	0	10534	942	33	4	242	4	NMBR	6	142397024	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2702244	142397024	28718043	5651	9267											
NMBR	4829	broad.mit.edu	37	6	142409507	142409507	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:142409507C>T	ENST00000258042.1	-	1	429	c.289G>A	c.(289-291)Gtc>Atc	p.V97I	RP11-137J7.2_ENST00000454401.1_RNA	NM_002511.2	NP_002502.2	P28336	NMBR_HUMAN	neuromedin B receptor	97					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	cytoplasm|integral to plasma membrane	bombesin receptor activity			breast(2)|central_nervous_system(3)|endometrium(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23	Breast(32;0.155)			OV - Ovarian serous cystadenocarcinoma(155;9.93e-06)|GBM - Glioblastoma multiforme(68;0.0013)		TCCACCGGGACGCAGGTGAGC	0.592													7	18					0	0	1	0	0	T	142409507	C	T	142409507	3	4	81	1	0	0	0	0	1	0	0	0	10534	536	19	1	895	1	NMBR	6	142409507	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	12483	142409507	28705560	5652	9268											
VTA1	51534	broad.mit.edu	37	6	142491540	142491540	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:142491540T>C	ENST00000367630.4	+	4	451	c.393T>C	c.(391-393)ttT>ttC	p.F131F	VTA1_ENST00000367621.1_Silent_p.F73F|VTA1_ENST00000452973.2_Silent_p.F73F|VTA1_ENST00000491881.1_3'UTR	NM_016485.3	NP_057569.2	Q9NP79	VTA1_HUMAN	vesicle (multivesicular body) trafficking 1	131	Interaction with IST1.				cellular membrane organization|endosome transport|protein transport	cytosol|endosome membrane	protein binding			endometrium(2)|large_intestine(1)|lung(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	Breast(32;0.155)			OV - Ovarian serous cystadenocarcinoma(155;1.34e-05)|GBM - Glioblastoma multiforme(68;0.00182)		TAACAGTATTTGGAGAACTCA	0.318													6	150					0	0	1	0	0	C	142491540	T	C	142491540	2	2	81	1	0	0	0	0	0	0	0	1	17293	1809	63	3		3	VTA1	6	142491540	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	82033	142491540	28623527	5653	9269											
HIVEP2	3097	broad.mit.edu	37	6	143074516	143074516	+	Missense_Mutation	SNP	G	G	A	rs78304150	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:143074516G>A	ENST00000367603.2	-	10	7811	c.7069C>T	c.(7069-7071)Ccc>Tcc	p.P2357S	RP1-67K17.3_ENST00000437067.1_RNA|HIVEP2_ENST00000012134.2_Missense_Mutation_p.P2357S|HIVEP2_ENST00000367604.1_Missense_Mutation_p.P2357S	NM_006734.3	NP_006725.3	P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	2357					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		TTCTGGTGGGGCTCCTGCACC	0.567													12	29					0	0	1	0	0	A	143074516	G	A	143074516	3	1	81	1	0	0	0	0	1	0	0	0	7228	1203	42	2	275	2	HIVEP2	6	143074516	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	582976	143074516	28040551	5654	9270											
HIVEP2	3097	broad.mit.edu	37	6	143074858	143074858	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:143074858C>T	ENST00000367603.2	-	10	7469	c.6727G>A	c.(6727-6729)Gcc>Acc	p.A2243T	RP1-67K17.3_ENST00000437067.1_RNA|HIVEP2_ENST00000012134.2_Missense_Mutation_p.A2243T|HIVEP2_ENST00000367604.1_Missense_Mutation_p.A2243T	NM_006734.3	NP_006725.3	P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	2243					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		CTGGAAAGGGCTGGCGGCATG	0.567													15	45					0	0	1	0	0	T	143074858	C	T	143074858	3	4	81	1	0	0	0	0	1	0	0	0	7228	797	28	2	617	2	HIVEP2	6	143074858	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	342	143074858	28040209	5655	9271											
HIVEP2	3097	broad.mit.edu	37	6	143081036	143081036	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:143081036G>A	ENST00000367603.2	-	9	7131	c.6389C>T	c.(6388-6390)tCt>tTt	p.S2130F	HIVEP2_ENST00000012134.2_Missense_Mutation_p.S2130F|HIVEP2_ENST00000367604.1_Missense_Mutation_p.S2130F	NM_006734.3	NP_006725.3	P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	2130	10 X 4 AA tandem repeats of S-P-[RGMKC]- [RK].|Arg-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		TCTTCTAGGAGAGAGGTCTCT	0.463													22	37					0	0	1	0	0	A	143081036	G	A	143081036	3	1	81	1	0	0	0	0	1	0	0	0	7228	942	33	2	959	2	HIVEP2	6	143081036	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	6178	143081036	28034031	5656	9272											
HIVEP2	3097	broad.mit.edu	37	6	143081223	143081223	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:143081223C>A	ENST00000367603.2	-	9	6944	c.6202G>T	c.(6202-6204)Gga>Tga	p.G2068*	HIVEP2_ENST00000012134.2_Nonsense_Mutation_p.G2068*|HIVEP2_ENST00000367604.1_Nonsense_Mutation_p.G2068*	NM_006734.3	NP_006725.3	P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	2068	10 X 4 AA tandem repeats of S-P-[RGMKC]- [RK].				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		GATAAATCTCCTTTGGGTATC	0.463													5	57					0.00116845	0.00124301	1	1	0	A	143081223	C	A	143081223	4	1	81	1	0	0	0	0	0	1	0	0	7228	690	24	4	1146	4	HIVEP2	6	143081223	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	187	143081223	28033844	5657	9273											
HIVEP2	3097	broad.mit.edu	37	6	143091681	143091681	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:143091681C>T	ENST00000367603.2	-	5	4937	c.4195G>A	c.(4195-4197)Gcg>Acg	p.A1399T	HIVEP2_ENST00000012134.2_Missense_Mutation_p.A1399T|HIVEP2_ENST00000367604.1_Missense_Mutation_p.A1399T	NM_006734.3	NP_006725.3	P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	1399					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		TCCAAGCCCGCATGCTGCCCC	0.527													14	28					0	0	1	0	0	T	143091681	C	T	143091681	3	4	81	1	0	0	0	0	1	0	0	0	7228	710	25	2	3169	2	HIVEP2	6	143091681	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	10458	143091681	28023386	5658	9274											
HIVEP2	3097	broad.mit.edu	37	6	143094683	143094683	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:143094683G>A	ENST00000367603.2	-	5	1935	c.1193C>T	c.(1192-1194)tCt>tTt	p.S398F	HIVEP2_ENST00000012134.2_Missense_Mutation_p.S398F|HIVEP2_ENST00000367604.1_Missense_Mutation_p.S398F	NM_006734.3	NP_006725.3	P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	398					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		AAAGTAACCAGAATCAGTGCT	0.433													56	76					0	0	1	0	0	A	143094683	G	A	143094683	3	1	81	1	0	0	0	0	1	0	0	0	7228	942	33	2	6171	2	HIVEP2	6	143094683	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	3002	143094683	28020384	5659	9275											
HIVEP2	3097	broad.mit.edu	37	6	143095871	143095871	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:143095871T>C	ENST00000367603.2	-	5	747	c.5A>G	c.(4-6)gAc>gGc	p.D2G	HIVEP2_ENST00000012134.2_Missense_Mutation_p.D2G|HIVEP2_ENST00000367604.1_Missense_Mutation_p.D2G	NM_006734.3	NP_006725.3	P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	2					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		GTCCCCAGTGTCCATTTTGTT	0.453													47	91					0	0	1	0	0	C	143095871	T	C	143095871	3	2	81	1	0	0	0	0	1	0	0	0	7228	1667	58	3	7359	3	HIVEP2	6	143095871	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	1188	143095871	28019196	5660	9276											
AIG1	51390	broad.mit.edu	37	6	143654485	143654485	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:143654485A>G	ENST00000357847.4	+	5	632	c.582A>G	c.(580-582)ggA>ggG	p.G194G	AIG1_ENST00000344492.5_Silent_p.G142G|AIG1_ENST00000275235.4_Silent_p.G194G	NM_016108.2	NP_057192.2	Q9NVV5	AIG1_HUMAN	androgen-induced 1	194						integral to membrane				endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(155;2.34e-05)|GBM - Glioblastoma multiforme(68;0.0246)		TTGGCCCAGGAGCCAGAATCA	0.468													89	85					0	0	1	0	0	G	143654485	A	G	143654485	2	3	81	1	0	0	0	0	0	0	0	1	426	291	11	3		3	AIG1	6	143654485	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	558614	143654485	27460582	5661	9277											
PEX3	8504	broad.mit.edu	37	6	143810334	143810334	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:143810334T>G	ENST00000367591.4	+	12	1156	c.1093T>G	c.(1093-1095)Ttt>Gtt	p.F365V	RP1-20N2.6_ENST00000591892.1_RNA	NM_003630.2	NP_003621.1	P56589	PEX3_HUMAN	peroxisomal biogenesis factor 3	365					protein import into peroxisome membrane|transmembrane transport	integral to peroxisomal membrane	protein binding			endometrium(1)|large_intestine(9)|lung(4)|ovary(2)|skin(2)	18				OV - Ovarian serous cystadenocarcinoma(155;5.73e-06)|GBM - Glioblastoma multiforme(68;0.0117)		GTATGAAGCTTTTAGTACCCC	0.338													8	108					0	0	1	0	0	G	143810334	T	G	143810334	3	3	81	1	0	0	0	0	1	0	0	0	11795	1841	64	5	1139	5	PEX3	6	143810334	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	155849	143810334	27304733	5662	9278											
PHACTR2	9749	broad.mit.edu	37	6	144093464	144093464	+	Silent	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:144093464T>G	ENST00000427704.2	+	7	1399	c.1269T>G	c.(1267-1269)tcT>tcG	p.S423S	PHACTR2_ENST00000367584.4_Silent_p.S411S|PHACTR2_ENST00000367582.3_Silent_p.S354S|PHACTR2_ENST00000440869.2_Silent_p.S434S|PHACTR2_ENST00000305766.6_Silent_p.S343S	NM_001100166.1|NM_014721.2	NP_001093636.1|NP_055536.2	O75167	PHAR2_HUMAN	phosphatase and actin regulator 2	423							actin binding|protein phosphatase inhibitor activity			NS(3)|breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30				OV - Ovarian serous cystadenocarcinoma(155;1.58e-05)|GBM - Glioblastoma multiforme(68;0.0386)		TGGGCGAATCTTCAGAATCCT	0.512													5	46					0	0	1	0	0	G	144093464	T	G	144093464	2	3	81	1	0	0	0	0	0	0	0	1	11858	1596	56	5		5	PHACTR2	6	144093464	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	283130	144093464	27021603	5663	9279											
SF3B5	83443	broad.mit.edu	37	6	144416569	144416569	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:144416569G>A	ENST00000367569.2	-	1	185	c.66C>T	c.(64-66)ggC>ggT	p.G22G		NM_031287.2	NP_112577.1	Q9BWJ5	SF3B5_HUMAN	splicing factor 3b, subunit 5, 10kDa	22					nuclear mRNA splicing, via spliceosome	nucleoplasm|U12-type spliceosomal complex				lung(2)|prostate(1)	3				OV - Ovarian serous cystadenocarcinoma(155;1.68e-06)|GBM - Glioblastoma multiforme(68;0.0638)		TGTCGGCGTGGCCCGTGCCGA	0.592													19	24					0	0	1	0	0	A	144416569	G	A	144416569	2	1	81	1	0	0	0	0	0	0	0	1	14208	1190	42	2		2	SF3B5	6	144416569	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	323105	144416569	26698498	5664	9280											
UTRN	7402	broad.mit.edu	37	6	144747452	144747452	+	Silent	SNP	G	G	A	rs138951487	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:144747452G>A	ENST00000367545.3	+	6	435	c.435G>A	c.(433-435)tcG>tcA	p.S145S		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	145	Actin-binding.				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		ATGTCATGTCGGACCTGCAGC	0.473													24	26					0	0	1	0	0	A	144747452	G	A	144747452	2	1	81	1	0	0	0	0	0	0	0	1	17163	1103	39	1		1	UTRN	6	144747452	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	330883	144747452	26367615	5665	9281											
UTRN	7402	broad.mit.edu	37	6	144769783	144769783	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:144769783G>T	ENST00000367545.3	+	16	1950	c.1950G>T	c.(1948-1950)aaG>aaT	p.K650N		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	650	Interaction with SYNM.				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		TTCCTCAGAAGGACCTTTTGG	0.428													11	102					1.61879e-10	1.98515e-10	1	1	0	T	144769783	G	T	144769783	3	4	81	1	0	0	0	0	1	0	0	0	17163	991	35	4	2012	4	UTRN	6	144769783	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	22331	144769783	26345284	5666	9282											
UTRN	7402	broad.mit.edu	37	6	144803408	144803408	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:144803408T>C	ENST00000367545.3	+	26	3571	c.3571T>C	c.(3571-3573)Tta>Cta	p.L1191L		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	1191					muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		CAACATCAAGTTATTAGCTGC	0.448													20	32					0	0	1	0	0	C	144803408	T	C	144803408	2	2	81	1	0	0	0	0	0	0	0	1	17163	1722	60	3		3	UTRN	6	144803408	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	33625	144803408	26311659	5667	9283											
UTRN	7402	broad.mit.edu	37	6	144844245	144844245	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:144844245G>T	ENST00000367545.3	+	40	5827	c.5827G>T	c.(5827-5829)Gcc>Tcc	p.A1943S		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	1943					muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		TGGACCTGAAGCCATTCAGAT	0.383													15	31					1.3612e-06	1.56842e-06	1	1	0	T	144844245	G	T	144844245	3	4	81	1	0	0	0	0	1	0	0	0	17163	971	34	4	5985	4	UTRN	6	144844245	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	40837	144844245	26270822	5668	9284											
UTRN	7402	broad.mit.edu	37	6	144878296	144878296	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:144878296C>A	ENST00000367545.3	+	49	7138	c.7138C>A	c.(7138-7140)Ctg>Atg	p.L2380M		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	2380					muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		ACCTCAGATACTGCTTCAAGA	0.443													6	40					0.000274275	0.000297259	1	1	0	A	144878296	C	A	144878296	3	1	81	1	0	0	0	0	1	0	0	0	17163	564	20	4	7332	4	UTRN	6	144878296	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	34051	144878296	26236771	5669	9285											
UTRN	7402	broad.mit.edu	37	6	144898291	144898291	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:144898291G>A	ENST00000367545.3	+	50	7346	c.7346G>A	c.(7345-7347)cGc>cAc	p.R2449H		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	2449					muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		CAGGCCTCTCGCAGAGATCTG	0.498													4	36					0	0	1	0	0	A	144898291	G	A	144898291	3	1	81	1	0	0	0	0	1	0	0	0	17163	1087	38	1	7544	1	UTRN	6	144898291	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	19995	144898291	26216776	5670	9286											
UTRN	7402	broad.mit.edu	37	6	145142120	145142120	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:145142120G>A	ENST00000367545.3	+	65	9460	c.9460G>A	c.(9460-9462)Gtc>Atc	p.V3154I	UTRN_ENST00000367526.4_Missense_Mutation_p.V709I	NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	3154	Interaction with SYNM.				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		TTACCTGCCTGTCCAGACAGT	0.373													11	62					0	0	1	0	0	A	145142120	G	A	145142120	3	1	81	1	0	0	0	0	1	0	0	0	17163	1377	48	2	9718	2	UTRN	6	145142120	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	243829	145142120	25972947	5671	9287											
FBXO30	84085	broad.mit.edu	37	6	146127055	146127055	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:146127055G>T	ENST00000237281.4	-	2	653	c.487C>A	c.(487-489)Cca>Aca	p.P163T		NM_032145.4	NP_115521.3	Q8TB52	FBX30_HUMAN	F-box protein 30	163							ubiquitin-protein ligase activity|zinc ion binding			NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26		Ovarian(120;0.0776)		OV - Ovarian serous cystadenocarcinoma(155;1.95e-07)|GBM - Glioblastoma multiforme(68;0.0149)		GGTATTTCTGGGACACTTGAT	0.393													17	158					1.02788e-11	1.2764e-11	1	1	0	T	146127055	G	T	146127055	3	4	81	1	0	0	0	0	1	0	0	0	5773	1232	43	5	1758	5	FBXO30	6	146127055	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	984935	146127055	24988012	5672	9288											
FBXO30	84085	broad.mit.edu	37	6	146127372	146127372	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:146127372C>T	ENST00000237281.4	-	2	336	c.170G>A	c.(169-171)cGa>cAa	p.R57Q		NM_032145.4	NP_115521.3	Q8TB52	FBX30_HUMAN	F-box protein 30	57							ubiquitin-protein ligase activity|zinc ion binding			NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26		Ovarian(120;0.0776)		OV - Ovarian serous cystadenocarcinoma(155;1.95e-07)|GBM - Glioblastoma multiforme(68;0.0149)		GCAAGGCACTCGTTCAAATGG	0.423													15	134					0	0	1	0	0	T	146127372	C	T	146127372	3	4	81	1	0	0	0	0	1	0	0	0	5773	884	31	1	2075	1	FBXO30	6	146127372	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	317	146127372	24987695	5673	9289											
SHPRH	257218	broad.mit.edu	37	6	146266768	146266768	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:146266768G>A	ENST00000367503.3	-	8	1725	c.1327C>T	c.(1327-1329)Cgt>Tgt	p.R443C	SHPRH_ENST00000367505.2_Missense_Mutation_p.R443C|SHPRH_ENST00000438092.2_Missense_Mutation_p.R443C|SHPRH_ENST00000275233.7_Missense_Mutation_p.R443C	NM_001042683.2	NP_001036148.2	Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase	443	H15.				DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		ATCATCACACGTGTAGCTAAA	0.313													11	19					0	0	1	0	0	A	146266768	G	A	146266768	3	1	81	1	0	0	0	0	1	0	0	0	14346	1145	40	1	3860	1	SHPRH	6	146266768	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	139396	146266768	24848299	5674	9290											
GRM1	2911	broad.mit.edu	37	6	146719914	146719914	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:146719914C>T	ENST00000392299.2	+	8	2209	c.1739C>T	c.(1738-1740)cCc>cTc	p.P580L	GRM1_ENST00000507907.1_Missense_Mutation_p.P580L|GRM1_ENST00000492807.2_Missense_Mutation_p.P580L|GRM1_ENST00000355289.4_Missense_Mutation_p.P580L|GRM1_ENST00000282753.1_Missense_Mutation_p.P580L|GRM1_ENST00000361719.2_Missense_Mutation_p.P580L			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	580					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	GGCTGTGAGCCCATTCCTGTG	0.428													56	70					0	0	1	0	0	T	146719914	C	T	146719914	3	4	81	1	0	0	0	0	1	0	0	0	6837	623	22	2	1765	2	GRM1	6	146719914	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	453146	146719914	24395153	5675	9291											
GRM1	2911	broad.mit.edu	37	6	146755570	146755570	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:146755570C>A	ENST00000361719.2	+	9	3693	c.3223C>A	c.(3223-3225)Ctg>Atg	p.L1075M	GRM1_ENST00000507907.1_3'UTR|GRM1_ENST00000492807.2_3'UTR|GRM1_ENST00000392299.2_3'UTR|GRM1_ENST00000355289.4_3'UTR|GRM1_ENST00000282753.1_Missense_Mutation_p.L1075M	NM_001278064.1	NP_001264993.1	Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	1075	Gln/Pro-rich.				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	TCCGCAGCACCTGCAGATGCT	0.692													5	51					0.014758	0.0152304	1	1	0	A	146755570	C	A	146755570	3	1	81	1	0	0	0	0	1	0	0	0	6837	680	24	4	3318	4	GRM1	6	146755570	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	35656	146755570	24359497	5676	9292											
STXBP5	134957	broad.mit.edu	37	6	147703945	147703945	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:147703945G>A	ENST00000367481.3	+	25	3225	c.3117G>A	c.(3115-3117)agG>agA	p.R1039R	STXBP5_ENST00000367480.3_Silent_p.R1022R|STXBP5_ENST00000321680.6_Silent_p.R1075R|STXBP5_ENST00000179882.6_Silent_p.R730R	NM_139244.4	NP_640337.3	Q5T5C0	STXB5_HUMAN	syntaxin binding protein 5 (tomosyn)	1075					exocytosis|positive regulation of exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|nicotinic acetylcholine-gated receptor-channel complex|synaptic vesicle	syntaxin-1 binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	42		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)		AGGCTTCAAGGAGCCTTGCAC	0.443													67	114					0	0	1	0	0	A	147703945	G	A	147703945	2	1	81	1	0	0	0	0	0	0	0	1	15412	1165	41	2		2	STXBP5	6	147703945	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	948375	147703945	23411122	5677	9293											
TAB2	23118	broad.mit.edu	37	6	149699899	149699899	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:149699899T>G	ENST00000367456.1	+	4	1425	c.848T>G	c.(847-849)gTc>gGc	p.V283G	TAB2_ENST00000538427.1_Missense_Mutation_p.V283G|TAB2_ENST00000286332.5_Missense_Mutation_p.V283G|TAB2_ENST00000536230.1_Missense_Mutation_p.V251G|TAB2_ENST00000392282.1_Missense_Mutation_p.V283G			Q9NYJ8	TAB2_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 2	283					activation of MAPK activity|heart development|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	K63-linked polyubiquitin binding|zinc ion binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	22						ACCTCTCATGTCTACATGCCA	0.468													10	77					0	0	1	0	0	G	149699899	T	G	149699899	3	3	81	1	0	0	0	0	1	0	0	0	15553	1667	58	5	854	5	TAB2	6	149699899	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	1995954	149699899	21415168	5678	9294											
TAB2	23118	broad.mit.edu	37	6	149718775	149718775	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:149718775C>T	ENST00000367456.1	+	5	2216	c.1639C>T	c.(1639-1641)Ctt>Ttt	p.L547F	TAB2_ENST00000538427.1_Missense_Mutation_p.L547F|TAB2_ENST00000286332.5_Missense_Mutation_p.L547F|TAB2_ENST00000536230.1_Missense_Mutation_p.L515F			Q9NYJ8	TAB2_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 2	547					activation of MAPK activity|heart development|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	K63-linked polyubiquitin binding|zinc ion binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	22						AATGGAACGACTTCAAAGAGA	0.373													90	158					0	0	1	0	0	T	149718775	C	T	149718775	3	4	81	1	0	0	0	0	1	0	0	0	15553	565	20	2	1649	2	TAB2	6	149718775	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	18876	149718775	21396292	5679	9295											
ZC3H12D	340152	broad.mit.edu	37	6	149772540	149772540	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:149772540G>A	ENST00000389942.5	-	6	1110	c.863C>T	c.(862-864)gCc>gTc	p.A288V	ZC3H12D_ENST00000416573.2_Missense_Mutation_p.A288V|ZC3H12D_ENST00000542614.1_Missense_Mutation_p.A288V|ZC3H12D_ENST00000409806.3_Missense_Mutation_p.A288V			A2A288	ZC12D_HUMAN	zinc finger CCCH-type containing 12D	288						cytoplasm|nucleus	endonuclease activity|nucleic acid binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|prostate(1)	6		Ovarian(120;0.0907)		OV - Ovarian serous cystadenocarcinoma(155;1.23e-11)|GBM - Glioblastoma multiforme(68;0.0921)		GAGCTCGTCGGCCACCGCCAG	0.731													7	11					0	0	1	0	0	A	149772540	G	A	149772540	3	1	81	1	0	0	0	0	1	0	0	0	17623	1203	42	2	724	2	ZC3H12D	6	149772540	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	53765	149772540	21342527	5680	9296											
PPIL4	85313	broad.mit.edu	37	6	149826712	149826712	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:149826712A>T	ENST00000253329.2	-	13	1388	c.1356T>A	c.(1354-1356)caT>caA	p.H452Q	PPIL4_ENST00000340881.2_Missense_Mutation_p.I85N	NM_139126.3	NP_624311.1	Q8WUA2	PPIL4_HUMAN	peptidylprolyl isomerase (cyclophilin)-like 4	452					protein folding	nucleus	nucleotide binding|peptidyl-prolyl cis-trans isomerase activity|RNA binding			endometrium(2)|kidney(4)|large_intestine(1)|lung(4)|prostate(1)|urinary_tract(1)	13		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.11e-11)|GBM - Glioblastoma multiforme(68;0.0885)		TATTACTATAATGGCCATCCC	0.393													33	66					0	0	1	0	0	T	149826712	A	T	149826712	3	4	81	1	0	0	0	0	1	0	0	0	12378	98	4	4	126	4	PPIL4	6	149826712	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	54172	149826712	21288355	5681	9297											
KATNA1	11104	broad.mit.edu	37	6	149922851	149922851	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:149922851G>A	ENST00000367411.2	-	7	1025	c.767C>T	c.(766-768)aCg>aTg	p.T256M	KATNA1_ENST00000335643.8_Missense_Mutation_p.T180M|KATNA1_ENST00000335647.5_Missense_Mutation_p.T256M|KATNA1_ENST00000494504.1_5'UTR	NM_007044.3	NP_008975.1	O75449	KTNA1_HUMAN	katanin p60 (ATPase containing) subunit A 1	256					cell division|interphase of mitotic cell cycle|mitosis	microtubule|microtubule organizing center|spindle pole	ATP binding|microtubule binding|microtubule-severing ATPase activity|protein heterodimerization activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	12		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;2.95e-12)|GBM - Glioblastoma multiforme(68;0.173)		AGCAAGGAGCGTCTTCCCCGT	0.438													18	34					0	0	1	0	0	A	149922851	G	A	149922851	3	1	81	1	0	0	0	0	1	0	0	0	8028	1145	40	1	728	1	KATNA1	6	149922851	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	96139	149922851	21192216	5682	9298											
LATS1	9113	broad.mit.edu	37	6	150005294	150005294	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:150005294T>C	ENST00000543571.1	-	4	1478	c.931A>G	c.(931-933)Aat>Gat	p.N311D	LATS1_ENST00000392273.3_Missense_Mutation_p.N311D|LATS1_ENST00000253339.5_Missense_Mutation_p.N311D|LATS1_ENST00000542747.1_5'UTR	NM_004690.3	NP_004681.1	O95835	LATS1_HUMAN	large tumor suppressor kinase 1	311					cell division|cytoplasmic sequestering of protein|G2/M transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|positive regulation of peptidyl-serine phosphorylation|regulation of actin filament polymerization|sister chromatid segregation	microtubule organizing center|spindle pole	ATP binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity			central_nervous_system(1)|lung(5)	6		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)		TTAGGAGGATTCATGGGGGAA	0.483													9	111					0	0	1	0	0	C	150005294	T	C	150005294	3	2	81	1	0	0	0	0	1	0	0	0	8685	1783	62	3	2481	3	LATS1	6	150005294	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	82443	150005294	21109773	5683	9299											
NUP43	348995	broad.mit.edu	37	6	150059820	150059820	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:150059820A>C	ENST00000340413.2	-	5	673	c.597T>G	c.(595-597)gaT>gaG	p.D199E	NUP43_ENST00000367404.4_Intron|NUP43_ENST00000367403.3_Intron|NUP43_ENST00000460354.2_Missense_Mutation_p.D199E	NM_198887.1	NP_942590.1	Q8NFH3	NUP43_HUMAN	nucleoporin 43kDa	199					carbohydrate metabolic process|cell division|chromosome segregation|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	protein binding			breast(1)|large_intestine(2)|lung(8)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	18		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;4.71e-13)|GBM - Glioblastoma multiforme(68;0.101)		GTTGTCTGAAATCCCATATTT	0.338													11	63					0	0	1	0	0	C	150059820	A	C	150059820	3	2	81	1	0	0	0	0	1	0	0	0	10813	98	4	4	561	4	NUP43	6	150059820	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	54526	150059820	21055247	5684	9300											
ULBP2	80328	broad.mit.edu	37	6	150267536	150267536	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:150267536T>C	ENST00000367351.3	+	3	451	c.378T>C	c.(376-378)tcT>tcC	p.S126S		NM_025217.2	NP_079493.1	Q9BZM5	N2DL2_HUMAN	UL16 binding protein 2	126	MHC class I alpha-2 like.				antigen processing and presentation|immune response|natural killer cell activation|regulation of immune response	anchored to membrane|cell surface|extracellular space|MHC class I protein complex	MHC class I receptor activity			breast(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|skin(1)	10		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.58e-12)		CAAGGATGTCTTGTGAGCAGA	0.498													10	92					0	0	1	0	0	C	150267536	T	C	150267536	2	2	81	1	0	0	0	0	0	0	0	1	17033	1596	56	3		3	ULBP2	6	150267536	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	207716	150267536	20847531	5685	9301											
RAET1L	154064	broad.mit.edu	37	6	150342236	150342236	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:150342236G>A	ENST00000367341.1	-	3	435	c.436C>T	c.(436-438)Cag>Tag	p.Q146*	RAET1L_ENST00000286380.2_Nonsense_Mutation_p.Q146*			Q5VY80	RET1L_HUMAN	retinoic acid early transcript 1L	146	MHC class I alpha-2 like (By similarity).				antigen processing and presentation|immune response	anchored to membrane|MHC class I protein complex				endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	5		Ovarian(120;0.028)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.4e-12)		AGGAAGGTCTGTCCATCGATA	0.502													51	84					0	0	1	0	0	A	150342236	G	A	150342236	4	1	81	1	0	0	0	0	0	1	0	0	13053	1386	48	2	311	2	RAET1L	6	150342236	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	74700	150342236	20772831	5686	9302											
ULBP3	79465	broad.mit.edu	37	6	150386666	150386666	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:150386666C>A	ENST00000367339.2	-	3	524	c.496G>T	c.(496-498)Gcc>Tcc	p.A166S	ULBP3_ENST00000438272.2_Missense_Mutation_p.A166S			Q9BZM4	N2DL3_HUMAN	UL16 binding protein 3		MHC class I alpha-2 like.				antigen processing and presentation|immune response|natural killer cell activation	anchored to membrane|MHC class I protein complex	MHC class I receptor activity			central_nervous_system(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	9		Ovarian(120;0.12)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.45e-12)		ATCCGCCTGGCTCCAGCGTGA	0.512													12	107					1.05317e-09	1.27674e-09	1	1	0	A	150386666	C	A	150386666	3	1	81	1	0	0	0	0	1	0	0	0	17034	797	28	4	245	4	ULBP3	6	150386666	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	44430	150386666	20728401	5687	9303											
ULBP3	79465	broad.mit.edu	37	6	150387291	150387291	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:150387291G>A	ENST00000367339.2	-	2	124	c.96C>T	c.(94-96)caC>caT	p.H32H	ULBP3_ENST00000438272.2_Silent_p.H32H			Q9BZM4	N2DL3_HUMAN	UL16 binding protein 3		MHC class I alpha-1 like.				antigen processing and presentation|immune response|natural killer cell activation	anchored to membrane|MHC class I protein complex	MHC class I receptor activity			central_nervous_system(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	9		Ovarian(120;0.12)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.45e-12)		ACCAGAGAGAGTGAGCGTCTA	0.488													18	23					0	0	1	0	0	A	150387291	G	A	150387291	2	1	81	1	0	0	0	0	0	0	0	1	17034	1020	36	2		2	ULBP3	6	150387291	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	625	150387291	20727776	5688	9304											
ULBP3	79465	broad.mit.edu	37	6	150390163	150390163	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:150390163C>T	ENST00000367339.2	-	1	68	c.40G>A	c.(40-42)Gcg>Acg	p.A14T	ULBP3_ENST00000438272.2_Missense_Mutation_p.A14T			Q9BZM4	N2DL3_HUMAN	UL16 binding protein 3						antigen processing and presentation|immune response|natural killer cell activation	anchored to membrane|MHC class I protein complex	MHC class I receptor activity			central_nervous_system(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	9		Ovarian(120;0.12)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.45e-12)		GGAAGAATCGCGAGGCGCGGA	0.677													9	3					0	0	1	0	0	T	150390163	C	T	150390163	3	4	81	1	0	0	0	0	1	0	0	0	17034	768	27	1	709	1	ULBP3	6	150390163	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2872	150390163	20724904	5689	9305											
PLEKHG1	57480	broad.mit.edu	37	6	151125863	151125863	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:151125863G>A	ENST00000367328.1	+	8	1210	c.898G>A	c.(898-900)Gcg>Acg	p.A300T	PLEKHG1_ENST00000358517.2_Missense_Mutation_p.A300T	NM_001029884.1	NP_001025055.1	Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 1	300					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		ACACGAGCACGCGGTCCGGTT	0.512													19	28					0	0	1	0	0	A	151125863	G	A	151125863	3	1	81	1	0	0	0	0	1	0	0	0	12116	1087	38	1	920	1	PLEKHG1	6	151125863	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	735700	151125863	19989204	5690	9306											
MTHFD1L	25902	broad.mit.edu	37	6	151203944	151203944	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:151203944G>A	ENST00000367321.3	+	5	738	c.464G>A	c.(463-465)gGc>gAc	p.G155D	MTHFD1L_ENST00000367307.4_Missense_Mutation_p.G155D	NM_001242767.1|NM_001242768.1|NM_015440.4	NP_001229696.1|NP_001229697.1|NP_056255.2	Q6UB35	C1TM_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like	155	Methylenetetrahydrofolate dehydrogenase and cyclohydrolase.				folic acid-containing compound biosynthetic process|formate metabolic process|one-carbon metabolic process|tetrahydrofolate metabolic process	mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|protein homodimerization activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	29		Ovarian(120;0.128)		OV - Ovarian serous cystadenocarcinoma(155;8.7e-12)		AGAGTACATGGCCTTGCCCTT	0.318													8	19					0	0	1	0	0	A	151203944	G	A	151203944	3	1	81	1	0	0	0	0	1	0	0	0	9976	1203	42	2	482	2	MTHFD1L	6	151203944	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	78081	151203944	19911123	5691	9307											
AKAP12	9590	broad.mit.edu	37	6	151672950	151672950	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:151672950G>A	ENST00000402676.2	+	4	3664	c.3424G>A	c.(3424-3426)Gaa>Aaa	p.E1142K	AKAP12_ENST00000354675.6_Missense_Mutation_p.E1044K|AKAP12_ENST00000359755.5_Missense_Mutation_p.E1037K|AKAP12_ENST00000253332.1_Missense_Mutation_p.E1142K	NM_005100.3	NP_005091.2	Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	1142					G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting	cell cortex|cytoskeleton|plasma membrane	adenylate cyclase binding|protein kinase A binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		TTGTCAAGCCGAAACCTTAGC	0.522													8	45					0	0	1	0	0	A	151672950	G	A	151672950	3	1	81	1	0	0	0	0	1	0	0	0	445	1059	37	1	3463	1	AKAP12	6	151672950	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	469006	151672950	19442117	5692	9308											
AKAP12	9590	broad.mit.edu	37	6	151674767	151674767	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:151674767G>A	ENST00000402676.2	+	4	5481	c.5241G>A	c.(5239-5241)caG>caA	p.Q1747Q	AKAP12_ENST00000354675.6_Silent_p.Q1649Q|AKAP12_ENST00000359755.5_Silent_p.Q1642Q|AKAP12_ENST00000253332.1_Silent_p.Q1747Q	NM_005100.3	NP_005091.2	Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	1747					G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting	cell cortex|cytoskeleton|plasma membrane	adenylate cyclase binding|protein kinase A binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		TAGAATTGCAGGAAGGAAAAG	0.453													3	32					0	0	1	0	0	A	151674767	G	A	151674767	2	1	81	1	0	0	0	0	0	0	0	1	445	991	35	2		2	AKAP12	6	151674767	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1817	151674767	19440300	5693	9309											
ZBTB2	57621	broad.mit.edu	37	6	151694680	151694680	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:151694680G>A	ENST00000325144.4	-	2	233	c.93C>T	c.(91-93)ggC>ggT	p.G31G		NM_020861.1	NP_065912.1	Q8N680	ZBTB2_HUMAN	zinc finger and BTB domain containing 2	31	BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(2)|lung(6)|skin(1)	12			BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.63e-11)		AGTATACATCGCCGATTGCAA	0.408													37	58					0	0	1	0	0	A	151694680	G	A	151694680	2	1	81	1	0	0	0	0	0	0	0	1	17587	1074	38	1		1	ZBTB2	6	151694680	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	19913	151694680	19420387	5694	9310											
RMND1	55005	broad.mit.edu	37	6	151766610	151766610	+	Silent	SNP	G	G	A	rs150212790		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:151766610G>A	ENST00000367303.4	-	2	459	c.337C>T	c.(337-339)Ctg>Ttg	p.L113L	RMND1_ENST00000491268.1_5'UTR	NM_017909.2	NP_060379.2	Q9NWS8	RMND1_HUMAN	required for meiotic nuclear division 1 homolog (S. cerevisiae)	113										central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.146)	OV - Ovarian serous cystadenocarcinoma(155;6.8e-11)		GAACCCAACAGATTTGGTTTG	0.408													62	113					0	0	1	0	0	A	151766610	G	A	151766610	2	1	81	1	0	0	0	0	0	0	0	1	13448	933	33	2		2	RMND1	6	151766610	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	71930	151766610	19348457	5695	9311											
C6orf211	79624	broad.mit.edu	37	6	151779496	151779496	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:151779496C>A	ENST00000367294.3	+	3	440	c.181C>A	c.(181-183)Ctc>Atc	p.L61I	C6orf211_ENST00000545879.1_5'UTR|C6orf211_ENST00000483931.1_3'UTR	NM_024573.1	NP_078849.1	Q9H993	CF211_HUMAN	chromosome 6 open reading frame 211	61							protein binding	p.L61I(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(7)	15			BRCA - Breast invasive adenocarcinoma(37;0.183)	OV - Ovarian serous cystadenocarcinoma(155;5.27e-11)		AGCTATCTCTCTCCTTTCTAA	0.358													37	51					5.71845e-15	7.28219e-15	1	1	0	A	151779496	C	A	151779496	3	1	81	1	0	0	0	0	1	0	0	0	2368	913	32	4	191	4	C6orf211	6	151779496	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	12886	151779496	19335571	5696	9312											
C6orf211	79624	broad.mit.edu	37	6	151785753	151785753	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:151785753G>T	ENST00000367294.3	+	4	817	c.558G>T	c.(556-558)caG>caT	p.Q186H	C6orf211_ENST00000545879.1_Splice_Site_p.Q67H	NM_024573.1	NP_078849.1	Q9H993	CF211_HUMAN	chromosome 6 open reading frame 211	186							protein binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(7)	15			BRCA - Breast invasive adenocarcinoma(37;0.183)	OV - Ovarian serous cystadenocarcinoma(155;5.27e-11)		AACTTCTGCAGGTAAATGTGA	0.279													4	26					0.00024832	0.000269806	1	1	0	T	151785753	G	T	151785753	5	4	81	1	0	0	0	0	0	0	1	0	2368	1014	35	4	572	4	C6orf211	6	151785753	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	6257	151785753	19329314	5697	9313											
ESR1	2099	broad.mit.edu	37	6	152332875	152332875	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:152332875G>A	ENST00000440973.1	+	7	1551	c.1181G>A	c.(1180-1182)cGc>cAc	p.R394H	ESR1_ENST00000427531.2_Missense_Mutation_p.R221H|ESR1_ENST00000206249.3_Missense_Mutation_p.R394H|ESR1_ENST00000406599.1_Intron|ESR1_ENST00000338799.5_Missense_Mutation_p.R394H|ESR1_ENST00000443427.1_Missense_Mutation_p.R394H|ESR1_ENST00000456483.2_Missense_Mutation_p.R282H	NM_001122742.1	NP_001116214.1	P03372	ESR1_HUMAN	estrogen receptor 1	394	Interaction with AKAP13.|Steroid-binding.				positive regulation of retinoic acid receptor signaling pathway|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to estradiol stimulus	chromatin remodeling complex|cytoplasm|nucleoplasm	beta-catenin binding|enzyme binding|estrogen receptor activity|estrogen response element binding|nitric-oxide synthase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(19)|ovary(1)|prostate(2)|skin(1)	49		Ovarian(120;0.0448)	BRCA - Breast invasive adenocarcinoma(37;0.0841)	OV - Ovarian serous cystadenocarcinoma(155;4.55e-10)	Chlorotrianisene(DB00269)|Clomifene(DB00882)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Desogestrel(DB00304)|Dienestrol(DB00890)|Diethylstilbestrol(DB00255)|Dromostanolone(DB00858)|Drospirenone(DB01395)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Fluoxymesterone(DB01185)|Fulvestrant(DB00947)|Letrozole(DB01006)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Melatonin(DB01065)|Mestranol(DB01357)|Naloxone(DB01183)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)|Quinestrol(DB04575)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Toremifene(DB00539)	CTCGTCTGGCGCTCCATGGAG	0.498													34	53					0	0	1	0	0	A	152332875	G	A	152332875	3	1	81	1	0	0	0	0	1	0	0	0	5284	1087	38	1	1199	1	ESR1	6	152332875	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	547122	152332875	18782192	5698	9314											
SYNE1	23345	broad.mit.edu	37	6	152462343	152462343	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:152462343G>A	ENST00000367255.5	-	139	25842	c.25241C>T	c.(25240-25242)aCg>aTg	p.T8414M	SYNE1_ENST00000448038.1_Missense_Mutation_p.T8366M|SYNE1_ENST00000356820.4_Missense_Mutation_p.T2938M|SYNE1_ENST00000423061.1_Missense_Mutation_p.T8366M|SYNE1_ENST00000539504.1_Missense_Mutation_p.T569M|SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000341594.5_Missense_Mutation_p.T8026M|SYNE1_ENST00000354674.4_Missense_Mutation_p.T592M|SYNE1_ENST00000265368.4_Missense_Mutation_p.T8414M	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	8414					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	p.T8414M(2)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CTCACCAGCCGTTTGGGTTTC	0.478										HNSCC(10;0.0054)			46	69					0	0	1	0	0	A	152462343	G	A	152462343	3	1	81	1	0	0	0	0	1	0	0	0	15502	1145	40	1	1184	1	SYNE1	6	152462343	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	129468	152462343	18652724	5699	9315											
SYNE1	23345	broad.mit.edu	37	6	152470620	152470620	+	Missense_Mutation	SNP	G	G	A	rs139885317		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:152470620G>A	ENST00000367255.5	-	136	25235	c.24634C>T	c.(24634-24636)Cgc>Tgc	p.R8212C	SYNE1_ENST00000448038.1_Missense_Mutation_p.R8141C|SYNE1_ENST00000356820.4_Missense_Mutation_p.R2736C|SYNE1_ENST00000423061.1_Missense_Mutation_p.R8141C|SYNE1_ENST00000539504.1_Missense_Mutation_p.R367C|SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000341594.5_Missense_Mutation_p.R7824C|SYNE1_ENST00000354674.4_Missense_Mutation_p.R367C|SYNE1_ENST00000265368.4_Missense_Mutation_p.R8212C	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	8212					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		ACAGGCAGGCGGATCAGTTTC	0.468										HNSCC(10;0.0054)			28	25					0	0	1	0	0	A	152470620	G	A	152470620	3	1	81	1	0	0	0	0	1	0	0	0	15502	1116	39	1	1876	1	SYNE1	6	152470620	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	8277	152470620	18644447	5700	9316											
SYNE1	23345	broad.mit.edu	37	6	152476032	152476032	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:152476032A>T	ENST00000367255.5	-	133	24725	c.24124T>A	c.(24124-24126)Ttt>Att	p.F8042I	SYNE1_ENST00000448038.1_Missense_Mutation_p.F7971I|SYNE1_ENST00000356820.4_Missense_Mutation_p.F2566I|SYNE1_ENST00000423061.1_Missense_Mutation_p.F7971I|SYNE1_ENST00000539504.1_Missense_Mutation_p.F197I|SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000341594.5_Missense_Mutation_p.F7654I|SYNE1_ENST00000354674.4_Missense_Mutation_p.F197I|SYNE1_ENST00000265368.4_Missense_Mutation_p.F8042I	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	8042					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		ATTACCTCAAATTTCTTTAGT	0.388										HNSCC(10;0.0054)			9	117					0	0	1	0	0	T	152476032	A	T	152476032	3	4	81	1	0	0	0	0	1	0	0	0	15502	101	4	4	2398	4	SYNE1	6	152476032	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	5412	152476032	18639035	5701	9317											
SYNE1	23345	broad.mit.edu	37	6	152553312	152553312	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:152553312T>C	ENST00000367255.5	-	113	21402	c.20801A>G	c.(20800-20802)gAa>gGa	p.E6934G	SYNE1_ENST00000448038.1_Missense_Mutation_p.E6863G|SYNE1_ENST00000356820.4_Missense_Mutation_p.E1458G|SYNE1_ENST00000423061.1_Missense_Mutation_p.E6863G|SYNE1_ENST00000341594.5_Missense_Mutation_p.E6546G|SYNE1_ENST00000265368.4_Missense_Mutation_p.E6934G	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	6934					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		AATATTATCTTCATCCTTCTG	0.318										HNSCC(10;0.0054)			15	85					0	0	1	0	0	C	152553312	T	C	152553312	3	2	81	1	0	0	0	0	1	0	0	0	15502	1783	62	3	5801	3	SYNE1	6	152553312	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	77280	152553312	18561755	5702	9318											
SYNE1	23345	broad.mit.edu	37	6	152557334	152557334	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:152557334T>C	ENST00000367255.5	-	110	20905	c.20304A>G	c.(20302-20304)caA>caG	p.Q6768Q	SYNE1_ENST00000448038.1_Silent_p.Q6697Q|SYNE1_ENST00000356820.4_Silent_p.Q1292Q|SYNE1_ENST00000423061.1_Silent_p.Q6697Q|SYNE1_ENST00000341594.5_Silent_p.Q6380Q|SYNE1_ENST00000265368.4_Silent_p.Q6768Q	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	6768					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GTTGATTTAGTTGGCTTTCTA	0.373										HNSCC(10;0.0054)			8	121					0	0	1	0	0	C	152557334	T	C	152557334	2	2	81	1	0	0	0	0	0	0	0	1	15502	1722	60	3		3	SYNE1	6	152557334	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	4022	152557334	18557733	5703	9319											
SYNE1	23345	broad.mit.edu	37	6	152560749	152560749	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:152560749G>T	ENST00000367255.5	-	108	20587	c.19986C>A	c.(19984-19986)ttC>ttA	p.F6662L	SYNE1_ENST00000448038.1_Missense_Mutation_p.F6591L|SYNE1_ENST00000356820.4_Missense_Mutation_p.F1186L|SYNE1_ENST00000423061.1_Missense_Mutation_p.F6591L|SYNE1_ENST00000341594.5_Missense_Mutation_p.F6274L|SYNE1_ENST00000265368.4_Missense_Mutation_p.F6662L	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	6662					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GCTCTGTATGGAACTGGGTTT	0.458										HNSCC(10;0.0054)			28	35					4.22769e-11	5.22336e-11	1	1	0	T	152560749	G	T	152560749	3	4	81	1	0	0	0	0	1	0	0	0	15502	1165	41	5	6636	5	SYNE1	6	152560749	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	3415	152560749	18554318	5704	9320											
SYNE1	23345	broad.mit.edu	37	6	152589210	152589210	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:152589210C>A	ENST00000367255.5	-	100	19397	c.18796G>T	c.(18796-18798)Gag>Tag	p.E6266*	SYNE1_ENST00000448038.1_Nonsense_Mutation_p.E6195*|SYNE1_ENST00000356820.4_Nonsense_Mutation_p.E790*|SYNE1_ENST00000423061.1_Nonsense_Mutation_p.E6195*|SYNE1_ENST00000341594.5_Nonsense_Mutation_p.E5878*|SYNE1_ENST00000265368.4_Nonsense_Mutation_p.E6266*	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	6266					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CCAGAGGTCTCTGCCGCCGAA	0.438										HNSCC(10;0.0054)			23	23					1.96895e-08	2.34134e-08	1	1	0	A	152589210	C	A	152589210	4	1	81	1	0	0	0	0	0	1	0	0	15502	922	32	4	7858	4	SYNE1	6	152589210	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	28461	152589210	18525857	5705	9321											
SYNE1	23345	broad.mit.edu	37	6	152646334	152646334	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:152646334A>G	ENST00000367255.5	-	81	16143	c.15542T>C	c.(15541-15543)cTg>cCg	p.L5181P	SYNE1_ENST00000448038.1_Missense_Mutation_p.L5110P|SYNE1_ENST00000423061.1_Missense_Mutation_p.L5110P|SYNE1_ENST00000341594.5_Missense_Mutation_p.L4874P|SYNE1_ENST00000265368.4_Missense_Mutation_p.L5181P	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	5181					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TGACCTGCTCAGGGTGGCTTT	0.527										HNSCC(10;0.0054)			14	185					0	0	1	0	0	G	152646334	A	G	152646334	3	3	81	1	0	0	0	0	1	0	0	0	15502	188	7	3	11188	3	SYNE1	6	152646334	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	57124	152646334	18468733	5706	9322											
SYNE1	23345	broad.mit.edu	37	6	152647664	152647664	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:152647664G>A	ENST00000367255.5	-	79	15661	c.15060C>T	c.(15058-15060)ggC>ggT	p.G5020G	SYNE1_ENST00000448038.1_Silent_p.G4949G|SYNE1_ENST00000423061.1_Silent_p.G4949G|SYNE1_ENST00000341594.5_Silent_p.G4767G|SYNE1_ENST00000265368.4_Silent_p.G5020G	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	5020					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CTAGGCCATTGCCTGCCAGCT	0.458										HNSCC(10;0.0054)			4	29					0	0	1	0	0	A	152647664	G	A	152647664	2	1	81	1	0	0	0	0	0	0	0	1	15502	1306	46	2		2	SYNE1	6	152647664	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1330	152647664	18467403	5707	9323											
SYNE1	23345	broad.mit.edu	37	6	152674457	152674457	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:152674457C>T	ENST00000367255.5	-	69	11795	c.11194G>A	c.(11194-11196)Gct>Act	p.A3732T	SYNE1_ENST00000448038.1_Missense_Mutation_p.A3717T|SYNE1_ENST00000423061.1_Missense_Mutation_p.A3717T|SYNE1_ENST00000341594.5_Missense_Mutation_p.A3703T|SYNE1_ENST00000265368.4_Missense_Mutation_p.A3732T	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	3732					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		ATCTTGGTAGCCACATTCTTG	0.413										HNSCC(10;0.0054)			16	181					0	0	1	0	0	T	152674457	C	T	152674457	3	4	81	1	0	0	0	0	1	0	0	0	15502	739	26	2	15584	2	SYNE1	6	152674457	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	26793	152674457	18440610	5708	9324											
SYNE1	23345	broad.mit.edu	37	6	152702469	152702469	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:152702469G>A	ENST00000367255.5	-	56	9282	c.8681C>T	c.(8680-8682)gCa>gTa	p.A2894V	SYNE1-AS1_ENST00000412161.1_RNA|SYNE1_ENST00000448038.1_Missense_Mutation_p.A2901V|SYNE1_ENST00000423061.1_Missense_Mutation_p.A2901V|SYNE1_ENST00000341594.5_Missense_Mutation_p.A2933V|SYNE1_ENST00000265368.4_Missense_Mutation_p.A2894V	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	2894					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GAGACGGCTTGCACCAATCTC	0.517										HNSCC(10;0.0054)			13	158					0	0	1	0	0	A	152702469	G	A	152702469	3	1	81	1	0	0	0	0	1	0	0	0	15502	1319	46	2	18149	2	SYNE1	6	152702469	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	28012	152702469	18412598	5709	9325											
SYNE1	23345	broad.mit.edu	37	6	152712526	152712526	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:152712526C>A	ENST00000367255.5	-	52	8491	c.7890G>T	c.(7888-7890)gaG>gaT	p.E2630D	SYNE1_ENST00000448038.1_Missense_Mutation_p.E2637D|SYNE1_ENST00000423061.1_Missense_Mutation_p.E2637D|SYNE1_ENST00000341594.5_Missense_Mutation_p.E2669D|SYNE1_ENST00000265368.4_Missense_Mutation_p.E2630D	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	2630					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GCAGTGCTTCCTCCAGGGCTT	0.562										HNSCC(10;0.0054)			20	23					9.7654e-05	0.000107398	1	1	0	A	152712526	C	A	152712526	3	1	81	1	0	0	0	0	1	0	0	0	15502	680	24	4	18956	4	SYNE1	6	152712526	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	10057	152712526	18402541	5710	9326											
SYNE1	23345	broad.mit.edu	37	6	152718083	152718083	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:152718083G>A	ENST00000367255.5	-	50	7984	c.7383C>T	c.(7381-7383)agC>agT	p.S2461S	SYNE1_ENST00000448038.1_Silent_p.S2468S|SYNE1_ENST00000423061.1_Silent_p.S2468S|SYNE1_ENST00000341594.5_Silent_p.S2500S|SYNE1_ENST00000265368.4_Silent_p.S2461S	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	2461					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CATCAAGTTTGCTCTGCCCAT	0.383										HNSCC(10;0.0054)			32	69					0	0	1	0	0	A	152718083	G	A	152718083	2	1	81	1	0	0	0	0	0	0	0	1	15502	1310	46	2		2	SYNE1	6	152718083	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	5557	152718083	18396984	5711	9327											
SYNE1	23345	broad.mit.edu	37	6	152722419	152722419	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:152722419C>T	ENST00000367255.5	-	47	7484	c.6883G>A	c.(6883-6885)Gca>Aca	p.A2295T	SYNE1_ENST00000448038.1_Missense_Mutation_p.A2302T|SYNE1_ENST00000423061.1_Missense_Mutation_p.A2302T|SYNE1_ENST00000341594.5_Missense_Mutation_p.A2332T|SYNE1_ENST00000265368.4_Missense_Mutation_p.A2295T	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	2295					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GTTCCTTTTGCTACTTCAGTT	0.363										HNSCC(10;0.0054)			29	56					0	0	1	0	0	T	152722419	C	T	152722419	3	4	81	1	0	0	0	0	1	0	0	0	15502	797	28	2	19983	2	SYNE1	6	152722419	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	4336	152722419	18392648	5712	9328											
SYNE1	23345	broad.mit.edu	37	6	152728208	152728208	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:152728208C>A	ENST00000367255.5	-	45	7265	c.6664G>T	c.(6664-6666)Gaa>Taa	p.E2222*	SYNE1_ENST00000448038.1_Nonsense_Mutation_p.E2229*|SYNE1_ENST00000423061.1_Nonsense_Mutation_p.E2229*|SYNE1_ENST00000341594.5_Nonsense_Mutation_p.E2259*|SYNE1_ENST00000265368.4_Nonsense_Mutation_p.E2222*	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	2222					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CTGATGTTTTCTGCCATCTGT	0.443										HNSCC(10;0.0054)			6	68					0.0215528	0.0221217	1	1	0	A	152728208	C	A	152728208	4	1	81	1	0	0	0	0	0	1	0	0	15502	922	32	4	20210	4	SYNE1	6	152728208	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	5789	152728208	18386859	5713	9329											
SYNE1	23345	broad.mit.edu	37	6	152730694	152730694	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:152730694C>A	ENST00000367255.5	-	43	6982	c.6381G>T	c.(6379-6381)aaG>aaT	p.K2127N	SYNE1_ENST00000448038.1_Splice_Site_p.K2134N|SYNE1_ENST00000423061.1_Splice_Site_p.K2134N|SYNE1_ENST00000341594.5_Splice_Site_p.K2164N|SYNE1_ENST00000265368.4_Splice_Site_p.K2127N	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	2127					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TGAATTTTACCTTGGAAAAAG	0.333										HNSCC(10;0.0054)			4	54					0.150653	0.152522	1	1	0	A	152730694	C	A	152730694	5	1	81	1	0	0	0	0	0	0	1	0	15502	695	24	4	20501	4	SYNE1	6	152730694	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2486	152730694	18384373	5714	9330											
SYNE1	23345	broad.mit.edu	37	6	152737985	152737985	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:152737985G>A	ENST00000367255.5	-	41	6188	c.5587C>T	c.(5587-5589)Cgg>Tgg	p.R1863W	SYNE1_ENST00000448038.1_Missense_Mutation_p.R1870W|SYNE1_ENST00000423061.1_Missense_Mutation_p.R1870W|SYNE1_ENST00000341594.5_Missense_Mutation_p.R1900W|SYNE1_ENST00000265368.4_Missense_Mutation_p.R1863W	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1863					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GCAAGCTGCCGCCTCTCCACA	0.602										HNSCC(10;0.0054)			7	62					0	0	1	0	0	A	152737985	G	A	152737985	3	1	81	1	0	0	0	0	1	0	0	0	15502	1086	38	1	21303	1	SYNE1	6	152737985	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	7291	152737985	18377082	5715	9331											
SYNE1	23345	broad.mit.edu	37	6	152771814	152771814	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:152771814C>T	ENST00000367255.5	-	27	3942	c.3341G>A	c.(3340-3342)aGc>aAc	p.S1114N	SYNE1_ENST00000448038.1_Missense_Mutation_p.S1121N|SYNE1_ENST00000367253.4_Missense_Mutation_p.S1114N|SYNE1_ENST00000423061.1_Missense_Mutation_p.S1121N|SYNE1_ENST00000341594.5_Missense_Mutation_p.S1180N|SYNE1_ENST00000265368.4_Missense_Mutation_p.S1114N|SYNE1_ENST00000413186.2_Missense_Mutation_p.S1114N|SYNE1_ENST00000367248.3_Missense_Mutation_p.S1104N	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1114					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CCTGTAGGTGCTGTCAATGGC	0.522										HNSCC(10;0.0054)			104	138					0	0	1	0	0	T	152771814	C	T	152771814	3	4	81	1	0	0	0	0	1	0	0	0	15502	797	28	2	23605	2	SYNE1	6	152771814	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	33829	152771814	18343253	5716	9332											
SYNE1	23345	broad.mit.edu	37	6	152771912	152771912	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:152771912G>A	ENST00000367255.5	-	27	3844	c.3243C>T	c.(3241-3243)atC>atT	p.I1081I	SYNE1_ENST00000448038.1_Silent_p.I1088I|SYNE1_ENST00000367253.4_Silent_p.I1081I|SYNE1_ENST00000423061.1_Silent_p.I1088I|SYNE1_ENST00000341594.5_Silent_p.I1147I|SYNE1_ENST00000265368.4_Silent_p.I1081I|SYNE1_ENST00000413186.2_Silent_p.I1081I|SYNE1_ENST00000367248.3_Silent_p.I1071I	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1081					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		AGAGTTCCTCGATGAGCTGTA	0.463										HNSCC(10;0.0054)			21	199					0	0	1	0	0	A	152771912	G	A	152771912	2	1	81	1	0	0	0	0	0	0	0	1	15502	1048	37	1		1	SYNE1	6	152771912	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	98	152771912	18343155	5717	9333											
SYNE1	23345	broad.mit.edu	37	6	152782732	152782732	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:152782732C>A	ENST00000367255.5	-	21	2995	c.2394G>T	c.(2392-2394)aaG>aaT	p.K798N	SYNE1_ENST00000495090.2_Splice_Site_p.K365N|SYNE1_ENST00000448038.1_Splice_Site_p.K805N|SYNE1_ENST00000367253.4_Splice_Site_p.K798N|SYNE1_ENST00000423061.1_Splice_Site_p.K805N|SYNE1_ENST00000341594.5_Splice_Site_p.K805N|SYNE1_ENST00000265368.4_Splice_Site_p.K798N|SYNE1_ENST00000413186.2_Splice_Site_p.K798N|SYNE1_ENST00000367248.3_Splice_Site_p.K788N	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	798					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		ATTTTCGCACCTTGGTTAGCT	0.433										HNSCC(10;0.0054)			12	96					0.00010058	0.000110448	1	1	0	A	152782732	C	A	152782732	5	1	81	1	0	0	0	0	0	0	1	0	15502	695	24	4	24576	4	SYNE1	6	152782732	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	10820	152782732	18332335	5718	9334											
SYNE1	23345	broad.mit.edu	37	6	152792774	152792774	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:152792774G>A	ENST00000367255.5	-	16	2191	c.1590C>T	c.(1588-1590)taC>taT	p.Y530Y	SYNE1_ENST00000495090.2_Silent_p.Y97Y|SYNE1_ENST00000448038.1_Silent_p.Y537Y|SYNE1_ENST00000466159.2_Silent_p.Y530Y|SYNE1_ENST00000367253.4_Silent_p.Y530Y|SYNE1_ENST00000423061.1_Silent_p.Y537Y|SYNE1_ENST00000341594.5_Silent_p.Y537Y|SYNE1_ENST00000265368.4_Silent_p.Y530Y|SYNE1_ENST00000413186.2_Silent_p.Y530Y|SYNE1_ENST00000367248.3_Silent_p.Y520Y	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	530					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CTCTCCTCCCGTACTTAATGA	0.443										HNSCC(10;0.0054)			36	69					0	0	1	0	0	A	152792774	G	A	152792774	2	1	81	1	0	0	0	0	0	0	0	1	15502	1140	40	1		1	SYNE1	6	152792774	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	10042	152792774	18322293	5719	9335											
FBXO5	26271	broad.mit.edu	37	6	153292398	153292398	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:153292398G>T	ENST00000367241.3	-	5	1486	c.1106C>A	c.(1105-1107)aCt>aAt	p.T369N	FBXO5_ENST00000477822.1_5'UTR|FBXO5_ENST00000229758.3_Missense_Mutation_p.T415N	NM_001142522.1	NP_001135994.1	Q9UKT4	FBX5_HUMAN	F-box protein 5	415					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle	cytosol|nucleoplasm|spindle	metal ion binding|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)	15		Ovarian(120;0.125)		OV - Ovarian serous cystadenocarcinoma(155;4.38e-10)|BRCA - Breast invasive adenocarcinoma(81;0.0893)		GTCTTTAGTAGTATGATAATT	0.388													21	40					7.87624e-14	9.96214e-14	1	1	0	T	153292398	G	T	153292398	3	4	81	1	0	0	0	0	1	0	0	0	5791	1029	36	4	103	4	FBXO5	6	153292398	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	499624	153292398	17822669	5720	9336											
OPRM1	4988	broad.mit.edu	37	6	154439843	154439843	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:154439843C>A	ENST00000522236.1	+	4	2198	c.890C>A	c.(889-891)gCt>gAt	p.A297D	OPRM1_ENST00000330432.7_Missense_Mutation_p.A397D|OPRM1_ENST00000337049.4_Intron|OPRM1_ENST00000434900.2_Missense_Mutation_p.A490D|OPRM1_ENST00000518759.1_Missense_Mutation_p.A316D|OPRM1_ENST00000520708.1_Missense_Mutation_p.A297D|OPRM1_ENST00000522555.1_Missense_Mutation_p.A297D	NM_001145287.1	NP_001138759.1	P35372	OPRM_HUMAN	opioid receptor, mu 1	397					behavior|negative regulation of cell proliferation|sensory perception	endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	mu-opioid receptor activity|protein binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	33		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;9.26e-11)|BRCA - Breast invasive adenocarcinoma(81;0.0154)	Alfentanil(DB00802)|Anileridine(DB00913)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dezocine(DB01209)|Diphenoxylate(DB01081)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Levallorphan(DB00504)|Levomethadyl Acetate(DB01227)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Methadyl Acetate(DB01433)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tramadol(DB00193)	GCAGAAACTGCTCCGTTGCCC	0.463													54	78					9.53978e-28	1.26796e-27	1	1	0	A	154439843	C	A	154439843	3	1	81	1	0	0	0	0	1	0	0	0	10935	797	28	4	1994	4	OPRM1	6	154439843	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1147445	154439843	16675224	5721	9337											
IPCEF1	26034	broad.mit.edu	37	6	154489055	154489055	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:154489055C>A	ENST00000265198.4	-	11	1256	c.1101G>T	c.(1099-1101)aaG>aaT	p.K367N	OPRM1_ENST00000337049.4_Intron|IPCEF1_ENST00000367220.4_Splice_Site_p.K368N|IPCEF1_ENST00000519344.1_Splice_Site_p.K339N|IPCEF1_ENST00000422970.2_Splice_Site_p.K368N	NM_001130700.1|NM_015553.2	NP_001124172.1|NP_056368.1			interaction protein for cytohesin exchange factors 1											breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	12						ATTTTGTTACCTTTAATGTGC	0.388													25	49					1.36565e-18	1.77349e-18	1	1	0	A	154489055	C	A	154489055	5	1	81	1	0	0	0	0	0	0	1	0	7835	695	24	4	220	4	IPCEF1	6	154489055	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	49212	154489055	16626012	5722	9338											
TIAM2	26230	broad.mit.edu	37	6	155154476	155154476	+	Translation_Start_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:155154476G>A	ENST00000461783.3	+	0	646				SCAF8_ENST00000367178.3_Missense_Mutation_p.A1255T|SCAF8_ENST00000367186.4_Missense_Mutation_p.A1321T|SCAF8_ENST00000417268.1_Missense_Mutation_p.A1255T			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2						apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		TGACACAGTTGCTGATATAGA	0.383													17	31					0	0	1	0	0	A	155154476	G	A	155154476	1	1	81	1	0	0	0	0	0	0	0	0	15951	1319	46	2		2	TIAM2	6	155154476	Translation_Start_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	665421	155154476	15960591	5723	9339											
TIAM2	26230	broad.mit.edu	37	6	155451107	155451107	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:155451107C>T	ENST00000461783.3	+	6	2023	c.750C>T	c.(748-750)taC>taT	p.Y250Y	TIAM2_ENST00000318981.5_Silent_p.Y250Y|TIAM2_ENST00000529824.2_Silent_p.Y250Y|TIAM2_ENST00000360366.4_Silent_p.Y250Y|TIAM2_ENST00000456144.1_Silent_p.Y250Y|TIAM2_ENST00000367174.2_5'UTR			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	250					apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		CATCCTGGTACGACTCCCCTT	0.662													19	48					0	0	1	0	0	T	155451107	C	T	155451107	2	4	81	1	0	0	0	0	0	0	0	1	15951	547	19	1		1	TIAM2	6	155451107	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	296631	155451107	15663960	5724	9340											
TIAM2	26230	broad.mit.edu	37	6	155451209	155451209	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:155451209C>T	ENST00000461783.3	+	6	2125	c.852C>T	c.(850-852)ggC>ggT	p.G284G	TIAM2_ENST00000318981.5_Silent_p.G284G|TIAM2_ENST00000529824.2_Silent_p.G284G|TIAM2_ENST00000360366.4_Silent_p.G284G|TIAM2_ENST00000456144.1_Silent_p.G284G|TIAM2_ENST00000367174.2_5'UTR			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	284					apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		TCCCACCTGGCGATGCCAAAA	0.622													6	50					0	0	1	0	0	T	155451209	C	T	155451209	2	4	81	1	0	0	0	0	0	0	0	1	15951	755	27	1		1	TIAM2	6	155451209	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	102	155451209	15663858	5725	9341											
TIAM2	26230	broad.mit.edu	37	6	155458711	155458711	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:155458711G>A	ENST00000461783.3	+	7	2868	c.1595G>A	c.(1594-1596)cGa>cAa	p.R532Q	TIAM2_ENST00000318981.5_Missense_Mutation_p.R532Q|TIAM2_ENST00000529824.2_Missense_Mutation_p.R532Q|TIAM2_ENST00000360366.4_Missense_Mutation_p.R532Q|TIAM2_ENST00000456144.1_Missense_Mutation_p.R532Q|TIAM2_ENST00000367174.2_5'UTR			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	532	PH 1.				apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		CTGGTGGCACGAAGGAAATGG	0.572													16	33					0	0	1	0	0	A	155458711	G	A	155458711	3	1	81	1	0	0	0	0	1	0	0	0	15951	1058	37	1	1601	1	TIAM2	6	155458711	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	7502	155458711	15656356	5726	9342											
TIAM2	26230	broad.mit.edu	37	6	155532416	155532416	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:155532416G>T	ENST00000461783.3	+	17	4416	c.3143G>T	c.(3142-3144)aGg>aTg	p.R1048M	TIAM2_ENST00000318981.5_Missense_Mutation_p.R1048M|TIAM2_ENST00000528391.2_Missense_Mutation_p.R384M|TIAM2_ENST00000529824.2_Missense_Mutation_p.R1048M|TIAM2_ENST00000456877.2_Missense_Mutation_p.R360M|TIAM2_ENST00000360366.4_Missense_Mutation_p.R1072M|TIAM2_ENST00000456144.1_Missense_Mutation_p.R1048M|TIAM2_ENST00000367174.2_Missense_Mutation_p.R424M			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	1048					apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		GTTTCCCACAGGGAGAAAATG	0.473													4	21					1	1	1	1	0	T	155532416	G	T	155532416	3	4	81	1	0	0	0	0	1	0	0	0	15951	1000	35	4	3189	4	TIAM2	6	155532416	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	73705	155532416	15582651	5727	9343											
NOX3	50508	broad.mit.edu	37	6	155732473	155732473	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:155732473G>A	ENST00000159060.2	-	11	1432	c.1330C>T	c.(1330-1332)Cgg>Tgg	p.R444W		NM_015718.2	NP_056533.1	Q9HBY0	NOX3_HUMAN	NADPH oxidase 3	444							electron carrier activity|flavin adenine dinucleotide binding|iron ion binding			cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	45		Breast(66;0.0183)		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)		CTTGCATCCCGGCAAATCCAG	0.413													20	27					0	0	1	0	0	A	155732473	G	A	155732473	3	1	81	1	0	0	0	0	1	0	0	0	10604	1115	39	1	388	1	NOX3	6	155732473	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	200057	155732473	15382594	5728	9344											
NOX3	50508	broad.mit.edu	37	6	155761125	155761125	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:155761125G>A	ENST00000159060.2	-	6	735	c.633C>T	c.(631-633)atC>atT	p.I211I		NM_015718.2	NP_056533.1	Q9HBY0	NOX3_HUMAN	NADPH oxidase 3	211	Ferric oxidoreductase.						electron carrier activity|flavin adenine dinucleotide binding|iron ion binding			cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	45		Breast(66;0.0183)		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)		GAAAGAAGACGATGAAAACAT	0.463													17	24					0	0	1	0	0	A	155761125	G	A	155761125	2	1	81	1	0	0	0	0	0	0	0	1	10604	1048	37	1		1	NOX3	6	155761125	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	28652	155761125	15353942	5729	9345											
ARID1B	57492	broad.mit.edu	37	6	157256605	157256605	+	Missense_Mutation	SNP	G	G	A	rs142897795		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:157256605G>A	ENST00000346085.5	+	5	1933	c.1932G>A	c.(1930-1932)atG>atA	p.M644I	ARID1B_ENST00000275248.4_Missense_Mutation_p.M573I|ARID1B_ENST00000367148.1_Missense_Mutation_p.M631I|ARID1B_ENST00000350026.5_Missense_Mutation_p.M631I	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	631					chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		TTTAGGACATGTCTCAGGAAG	0.383													14	60					0	0	1	0	0	A	157256605	G	A	157256605	3	1	81	1	0	0	0	0	1	0	0	0	911	1377	48	2	1950	2	ARID1B	6	157256605	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1495480	157256605	13858462	5730	9346											
ARID1B	57492	broad.mit.edu	37	6	157454310	157454310	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:157454310C>T	ENST00000346085.5	+	8	2521	c.2520C>T	c.(2518-2520)taC>taT	p.Y840Y	ARID1B_ENST00000275248.4_Silent_p.Y769Y|ARID1B_ENST00000350026.5_Silent_p.Y827Y|ARID1B_ENST00000367148.1_Silent_p.Y827Y	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	827					chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		GTGGGACTTACGGTCCACAGA	0.478													11	23					0	0	1	0	0	T	157454310	C	T	157454310	2	4	81	1	0	0	0	0	0	0	0	1	911	547	19	1		1	ARID1B	6	157454310	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	197705	157454310	13660757	5731	9347											
ARID1B	57492	broad.mit.edu	37	6	157502125	157502125	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:157502125C>T	ENST00000346085.5	+	12	3159	c.3158C>T	c.(3157-3159)aCt>aTt	p.T1053I	ARID1B_ENST00000275248.4_Missense_Mutation_p.T1035I|ARID1B_ENST00000350026.5_Missense_Mutation_p.T1040I|ARID1B_ENST00000478761.2_3'UTR|ARID1B_ENST00000367148.1_Missense_Mutation_p.T1093I	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1040	ARID.				chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		TCCACCACTACTGGGGAGAAG	0.547													7	17					0	0	1	0	0	T	157502125	C	T	157502125	3	4	81	1	0	0	0	0	1	0	0	0	911	565	20	2	3204	2	ARID1B	6	157502125	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	47815	157502125	13612942	5732	9348											
ARID1B	57492	broad.mit.edu	37	6	157502224	157502224	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:157502224C>T	ENST00000346085.5	+	12	3258	c.3257C>T	c.(3256-3258)cCt>cTt	p.P1086L	ARID1B_ENST00000275248.4_Missense_Mutation_p.P1068L|ARID1B_ENST00000350026.5_Missense_Mutation_p.P1073L|ARID1B_ENST00000478761.2_3'UTR|ARID1B_ENST00000367148.1_Missense_Mutation_p.P1126L	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1073	ARID.				chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		AGAGGCTCTCCTGTCTCAAGT	0.562													17	33					0	0	1	0	0	T	157502224	C	T	157502224	3	4	81	1	0	0	0	0	1	0	0	0	911	681	24	2	3303	2	ARID1B	6	157502224	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	99	157502224	13612843	5733	9349											
ARID1B	57492	broad.mit.edu	37	6	157505375	157505375	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:157505375A>G	ENST00000346085.5	+	13	3357	c.3356A>G	c.(3355-3357)aAc>aGc	p.N1119S	ARID1B_ENST00000275248.4_Missense_Mutation_p.N1101S|ARID1B_ENST00000350026.5_Missense_Mutation_p.N1106S|ARID1B_ENST00000367148.1_Missense_Mutation_p.N1159S	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1106	ARID.				chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		GTTAATAAAAACAAGAAGTGG	0.433													18	19					0	0	1	0	0	G	157505375	A	G	157505375	3	3	81	1	0	0	0	0	1	0	0	0	911	43	2	3	3406	3	ARID1B	6	157505375	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	3151	157505375	13609692	5734	9350											
ARID1B	57492	broad.mit.edu	37	6	157528220	157528220	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:157528220A>G	ENST00000346085.5	+	20	5946	c.5945A>G	c.(5944-5946)cAc>cGc	p.H1982R	ARID1B_ENST00000275248.4_Missense_Mutation_p.H1964R|ARID1B_ENST00000350026.5_Missense_Mutation_p.H1969R|ARID1B_ENST00000367148.1_Missense_Mutation_p.H2022R	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1969					chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		ATTCTTCTTCACCACGAGCAT	0.537													4	103					0	0	1	0	0	G	157528220	A	G	157528220	3	3	81	1	0	0	0	0	1	0	0	0	911	159	6	3	6023	3	ARID1B	6	157528220	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	22845	157528220	13586847	5735	9351											
ARID1B	57492	broad.mit.edu	37	6	157528784	157528784	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:157528784C>T	ENST00000346085.5	+	20	6510	c.6509C>T	c.(6508-6510)gCc>gTc	p.A2170V	ARID1B_ENST00000275248.4_Missense_Mutation_p.A2152V|ARID1B_ENST00000350026.5_Missense_Mutation_p.A2157V|ARID1B_ENST00000367148.1_Missense_Mutation_p.A2210V	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	2157					chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		GTCACGATGGCCCAGTACCAG	0.572													34	39					0	0	1	0	0	T	157528784	C	T	157528784	3	4	81	1	0	0	0	0	1	0	0	0	911	739	26	2	6587	2	ARID1B	6	157528784	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	564	157528784	13586283	5736	9352											
SNX9	51429	broad.mit.edu	37	6	158323018	158323018	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:158323018C>T	ENST00000392185.3	+	6	732	c.561C>T	c.(559-561)ggC>ggT	p.G187G		NM_016224.3	NP_057308.1	Q9Y5X1	SNX9_HUMAN	sorting nexin 9	187					cell communication|intracellular protein transport|lipid tube assembly|positive regulation of GTPase activity|positive regulation of protein oligomerization|receptor-mediated endocytosis	clathrin-coated vesicle|cytoplasmic vesicle membrane|extrinsic to internal side of plasma membrane|ruffle|trans-Golgi network	1-phosphatidylinositol binding|protein homodimerization activity|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	20		Breast(66;0.000776)|Ovarian(120;0.0303)|Prostate(117;0.167)		OV - Ovarian serous cystadenocarcinoma(65;8.06e-18)|BRCA - Breast invasive adenocarcinoma(81;4.48e-05)		CTGATGCAGGCGGCGCTCAGC	0.502													19	39					0	0	1	0	0	T	158323018	C	T	158323018	2	4	81	1	0	0	0	0	0	0	0	1	14963	755	27	1		1	SNX9	6	158323018	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	794234	158323018	12792049	5737	9353											
SNX9	51429	broad.mit.edu	37	6	158330965	158330965	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:158330965G>T	ENST00000392185.3	+	9	1028	c.857G>T	c.(856-858)aGg>aTg	p.R286M		NM_016224.3	NP_057308.1	Q9Y5X1	SNX9_HUMAN	sorting nexin 9	286	PX.				cell communication|intracellular protein transport|lipid tube assembly|positive regulation of GTPase activity|positive regulation of protein oligomerization|receptor-mediated endocytosis	clathrin-coated vesicle|cytoplasmic vesicle membrane|extrinsic to internal side of plasma membrane|ruffle|trans-Golgi network	1-phosphatidylinositol binding|protein homodimerization activity|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	20		Breast(66;0.000776)|Ovarian(120;0.0303)|Prostate(117;0.167)		OV - Ovarian serous cystadenocarcinoma(65;8.06e-18)|BRCA - Breast invasive adenocarcinoma(81;4.48e-05)		GTAAACCACAGGTATAAGCAC	0.408													13	124					2.32078e-09	2.80257e-09	1	1	0	T	158330965	G	T	158330965	3	4	81	1	0	0	0	0	1	0	0	0	14963	1000	35	4	891	4	SNX9	6	158330965	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	7947	158330965	12784102	5738	9354											
SNX9	51429	broad.mit.edu	37	6	158349675	158349675	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:158349675A>G	ENST00000392185.3	+	12	1400	c.1229A>G	c.(1228-1230)gAt>gGt	p.D410G		NM_016224.3	NP_057308.1	Q9Y5X1	SNX9_HUMAN	sorting nexin 9	410	BAR.				cell communication|intracellular protein transport|lipid tube assembly|positive regulation of GTPase activity|positive regulation of protein oligomerization|receptor-mediated endocytosis	clathrin-coated vesicle|cytoplasmic vesicle membrane|extrinsic to internal side of plasma membrane|ruffle|trans-Golgi network	1-phosphatidylinositol binding|protein homodimerization activity|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	20		Breast(66;0.000776)|Ovarian(120;0.0303)|Prostate(117;0.167)		OV - Ovarian serous cystadenocarcinoma(65;8.06e-18)|BRCA - Breast invasive adenocarcinoma(81;4.48e-05)		AAGGCCATGGATGACGGCGTG	0.622													3	10					0	0	1	0	0	G	158349675	A	G	158349675	3	3	81	1	0	0	0	0	1	0	0	0	14963	333	12	3	1275	3	SNX9	6	158349675	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	18710	158349675	12765392	5739	9355											
SYNJ2	8871	broad.mit.edu	37	6	158449920	158449920	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:158449920G>A	ENST00000355585.4	+	3	422	c.347G>A	c.(346-348)cGc>cAc	p.R116H	SYNJ2_ENST00000367121.3_Missense_Mutation_p.R116H|SYNJ2_ENST00000367122.2_Missense_Mutation_p.R116H|SYNJ2_ENST00000449859.2_Missense_Mutation_p.R65H	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	116							nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		GAGGAGGAACGCCTCATAGCT	0.507													23	26					0	0	1	0	0	A	158449920	G	A	158449920	3	1	81	1	0	0	0	0	1	0	0	0	15510	1087	38	1	357	1	SYNJ2	6	158449920	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	100245	158449920	12665147	5740	9356											
SYNJ2	8871	broad.mit.edu	37	6	158454662	158454662	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:158454662C>T	ENST00000355585.4	+	4	736	c.661C>T	c.(661-663)Cgt>Tgt	p.R221C	SYNJ2_ENST00000367121.3_Missense_Mutation_p.R221C|SYNJ2_ENST00000367122.2_Missense_Mutation_p.R221C|SYNJ2_ENST00000449859.2_Missense_Mutation_p.R170C	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	221	SAC.						nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		CTTCCACACCCGTGGCGTGAA	0.627													13	19					0	0	1	0	0	T	158454662	C	T	158454662	3	4	81	1	0	0	0	0	1	0	0	0	15510	652	23	1	675	1	SYNJ2	6	158454662	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	4742	158454662	12660405	5741	9357											
SYNJ2	8871	broad.mit.edu	37	6	158464356	158464356	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:158464356C>T	ENST00000355585.4	+	5	795	c.720C>T	c.(718-720)taC>taT	p.Y240Y	SYNJ2_ENST00000367121.3_Silent_p.Y240Y|SYNJ2_ENST00000367122.2_Silent_p.Y240Y|SYNJ2_ENST00000449859.2_Silent_p.Y189Y	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	240	SAC.						nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		AGATGATTTACATGGACGATG	0.502													4	29					0	0	1	0	0	T	158464356	C	T	158464356	2	4	81	1	0	0	0	0	0	0	0	1	15510	489	17	2		2	SYNJ2	6	158464356	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	9694	158464356	12650711	5742	9358											
SYNJ2	8871	broad.mit.edu	37	6	158490681	158490681	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:158490681G>A	ENST00000355585.4	+	14	1991	c.1916G>A	c.(1915-1917)cGt>cAt	p.R639H	SYNJ2_ENST00000367121.3_Missense_Mutation_p.R639H|SYNJ2_ENST00000367122.2_Missense_Mutation_p.R639H	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	639							nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		ATCTTTGTACGTCCATACCAT	0.458													21	25					0	0	1	0	0	A	158490681	G	A	158490681	3	1	81	1	0	0	0	0	1	0	0	0	15510	1145	40	1	1970	1	SYNJ2	6	158490681	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	26325	158490681	12624386	5743	9359											
SYNJ2	8871	broad.mit.edu	37	6	158514936	158514936	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:158514936G>A	ENST00000367121.3	+	27	3867	c.3761G>A	c.(3760-3762)cGc>cAc	p.R1254H	SYNJ2_ENST00000367122.2_Intron|SYNJ2_ENST00000355585.4_Intron|SYNJ2_ENST00000367112.1_Intron			O15056	SYNJ2_HUMAN	synaptojanin 2	0	Pro-rich.						nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		TTTTGCTCTCGCTCTCAAGCT	0.488													31	52					0	0	1	0	0	A	158514936	G	A	158514936	3	1	81	1	0	0	0	0	1	0	0	0	15510	1102	38	1		1	SYNJ2	6	158514936	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	24255	158514936	12600131	5744	9360											
SYNJ2	8871	broad.mit.edu	37	6	158516690	158516690	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:158516690A>G	ENST00000355585.4	+	27	3860	c.3785A>G	c.(3784-3786)cAt>cGt	p.H1262R	SYNJ2_ENST00000367122.2_Missense_Mutation_p.H1217R|SYNJ2_ENST00000367112.1_Missense_Mutation_p.H347R	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	1262	Pro-rich.						nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		CAGACTGTCCATTTTACAATC	0.532													33	39					0	0	1	0	0	G	158516690	A	G	158516690	3	3	81	1	0	0	0	0	1	0	0	0	15510	217	8	3	3891	3	SYNJ2	6	158516690	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	1754	158516690	12598377	5745	9361											
SYNJ2	8871	broad.mit.edu	37	6	158516907	158516907	+	Silent	SNP	G	G	A	rs3749847		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:158516907G>A	ENST00000355585.4	+	27	4077	c.4002G>A	c.(4000-4002)ccG>ccA	p.P1334P	SYNJ2_ENST00000367122.2_Silent_p.P1289P|SYNJ2_ENST00000367112.1_Silent_p.P419P	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	1334	Pro-rich.						nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		AGGTACCCCCGAGGAGGAAGA	0.637													29	40					0	0	1	0	0	A	158516907	G	A	158516907	2	1	81	1	0	0	0	0	0	0	0	1	15510	1045	37	1		1	SYNJ2	6	158516907	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	217	158516907	12598160	5746	9362											
SERAC1	84947	broad.mit.edu	37	6	158569913	158569913	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:158569913C>T	ENST00000367102.2	-	5	480	c.339G>A	c.(337-339)ctG>ctA	p.L113L	SERAC1_ENST00000367101.1_Silent_p.L113L|SERAC1_ENST00000607000.1_Silent_p.L113L|SERAC1_ENST00000367104.3_Silent_p.L113L			Q96JX3	SRAC1_HUMAN	serine active site containing 1	113					GPI anchor metabolic process|intracellular protein transport	integral to membrane|intrinsic to endoplasmic reticulum membrane	binding|hydrolase activity, acting on ester bonds			endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	15		Breast(66;0.00519)|Ovarian(120;0.123)|Prostate(117;0.178)		OV - Ovarian serous cystadenocarcinoma(65;1.37e-18)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)		ATGGATTCCGCAGTATCTTGG	0.338													9	30					0	0	1	0	0	T	158569913	C	T	158569913	2	4	81	1	0	0	0	0	0	0	0	1	14128	697	25	2		2	SERAC1	6	158569913	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	53006	158569913	12545154	5747	9363											
SERAC1	84947	broad.mit.edu	37	6	158571620	158571620	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:158571620C>A	ENST00000367102.2	-	4	271	c.130G>T	c.(130-132)Ggt>Tgt	p.G44C	SERAC1_ENST00000367101.1_Splice_Site_p.G44C|SERAC1_ENST00000607000.1_Splice_Site_p.G44C|SERAC1_ENST00000367104.3_Splice_Site_p.G44C			Q96JX3	SRAC1_HUMAN	serine active site containing 1	44					GPI anchor metabolic process|intracellular protein transport	integral to membrane|intrinsic to endoplasmic reticulum membrane	binding|hydrolase activity, acting on ester bonds			endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	15		Breast(66;0.00519)|Ovarian(120;0.123)|Prostate(117;0.178)		OV - Ovarian serous cystadenocarcinoma(65;1.37e-18)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)		AATAAAGAACCTCTTAAAGAG	0.308													4	58					0.00909568	0.00944708	1	1	0	A	158571620	C	A	158571620	5	1	81	1	0	0	0	0	0	0	1	0	14128	695	24	4	1890	4	SERAC1	6	158571620	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1707	158571620	12543447	5748	9364											
TULP4	56995	broad.mit.edu	37	6	158735283	158735283	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:158735283C>T	ENST00000367097.3	+	1	1592	c.235C>T	c.(235-237)Cgg>Tgg	p.R79W	TULP4_ENST00000367094.2_Missense_Mutation_p.R79W	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN	tubby like protein 4	79					intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity			endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		TTTCAACCTCCGGGGCCACAA	0.522													22	28					0	0	1	0	0	T	158735283	C	T	158735283	3	4	81	1	0	0	0	0	1	0	0	0	16838	643	23	1	237	1	TULP4	6	158735283	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	163663	158735283	12379784	5749	9365											
TULP4	56995	broad.mit.edu	37	6	158850911	158850911	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:158850911G>A	ENST00000367097.3	+	3	1882	c.525G>A	c.(523-525)tgG>tgA	p.W175*	TULP4_ENST00000367094.2_Nonsense_Mutation_p.W175*	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN	tubby like protein 4	175					intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity			endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		GTGGCATATGGACTCCTGACG	0.498													11	81					0	0	1	0	0	A	158850911	G	A	158850911	4	1	81	1	0	0	0	0	0	1	0	0	16838	1183	41	2	535	2	TULP4	6	158850911	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	115628	158850911	12264156	5750	9366											
TULP4	56995	broad.mit.edu	37	6	158923090	158923090	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:158923090C>T	ENST00000367097.3	+	13	3752	c.2395C>T	c.(2395-2397)Cag>Tag	p.Q799*	TULP4_ENST00000367094.2_Intron	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN	tubby like protein 4	799					intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity			endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		CGAACACCTGCAGAAGTCAGC	0.647													7	47					0	0	1	0	0	T	158923090	C	T	158923090	4	4	81	1	0	0	0	0	0	1	0	0	16838	711	25	2	2445	2	TULP4	6	158923090	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	72179	158923090	12191977	5751	9367											
TULP4	56995	broad.mit.edu	37	6	158923412	158923412	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:158923412G>A	ENST00000367097.3	+	13	4074	c.2717G>A	c.(2716-2718)cGg>cAg	p.R906Q	TULP4_ENST00000367094.2_Intron	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN	tubby like protein 4	906					intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity			endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		CCCCGCACCCGGATGCTGTGC	0.652													30	36					0	0	1	0	0	A	158923412	G	A	158923412	3	1	81	1	0	0	0	0	1	0	0	0	16838	1116	39	1	2767	1	TULP4	6	158923412	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	322	158923412	12191655	5752	9368											
TMEM181	57583	broad.mit.edu	37	6	159010761	159010761	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:159010761G>T	ENST00000367090.3	+	6	861	c.850G>T	c.(850-852)Gtg>Ttg	p.V284L		NM_020823.1	NP_065874.1	Q9P2C4	TM181_HUMAN	transmembrane protein 181	284					pathogenesis	integral to membrane	toxin binding			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)	22		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;8.15e-18)|BRCA - Breast invasive adenocarcinoma(81;1.38e-05)		TCAGTATACAGTGATAGTGGG	0.433													5	35					3.59834e-05	3.99423e-05	1	1	0	T	159010761	G	T	159010761	3	4	81	1	0	0	0	0	1	0	0	0	16160	1029	36	4	872	4	TMEM181	6	159010761	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	87349	159010761	12104306	5753	9369											
DYNLT1	6993	broad.mit.edu	37	6	159058914	159058914	+	Missense_Mutation	SNP	C	C	T	rs142843740		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:159058914C>T	ENST00000367085.3	-	3	111	c.82G>A	c.(82-84)Gca>Aca	p.A28T	DYNLT1_ENST00000367089.3_Missense_Mutation_p.A28T|DYNLT1_ENST00000367088.1_5'UTR			P63172	DYLT1_HUMAN	dynein, light chain, Tctex-type 1	28					cell division|establishment of mitotic spindle orientation|intracellular transport of viral proteins in host cell|mitosis|negative regulation of neurogenesis|regulation of G-protein coupled receptor protein signaling pathway	cytoplasmic dynein complex|Golgi apparatus|microtubule|spindle	identical protein binding|motor activity			lung(2)	2		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;4.02e-18)|BRCA - Breast invasive adenocarcinoma(81;9.53e-06)		CCACCAATTGCGCTTTCTATA	0.463													25	50					0	0	1	0	0	T	159058914	C	T	159058914	3	4	81	1	0	0	0	0	1	0	0	0	4878	768	27	1	271	1	DYNLT1	6	159058914	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	48153	159058914	12056153	5754	9370											
SYTL3	94120	broad.mit.edu	37	6	159084380	159084380	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:159084380C>T	ENST00000297239.9	+	3	274	c.80C>T	c.(79-81)gCg>gTg	p.A27V	SYTL3_ENST00000360448.3_Missense_Mutation_p.A27V|SYTL3_ENST00000367081.3_5'UTR			Q4VX76	SYTL3_HUMAN	synaptotagmin-like 3	27	RabBD.				intracellular protein transport	endomembrane system|membrane	Rab GTPase binding			endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|urinary_tract(1)	20		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.54e-17)|BRCA - Breast invasive adenocarcinoma(81;8.24e-06)		CGAGACCAGGCGGTTCAAAAC	0.557													16	23					0	0	1	0	0	T	159084380	C	T	159084380	3	4	81	1	0	0	0	0	1	0	0	0	15541	768	27	1	82	1	SYTL3	6	159084380	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	25466	159084380	12030687	5755	9371											
EZR	7430	broad.mit.edu	37	6	159187958	159187958	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:159187958G>A	ENST00000367075.3	-	14	1917	c.1749C>T	c.(1747-1749)ttC>ttT	p.F583F	EZR_ENST00000392177.4_Silent_p.F551F|EZR_ENST00000337147.7_Silent_p.F583F	NM_001111077.1	NP_001104547.1	P15311	EZRI_HUMAN	ezrin	583	Interaction with SCYL3.				actin filament bundle assembly|axon guidance|cytoskeletal anchoring at plasma membrane|leukocyte cell-cell adhesion|membrane to membrane docking|regulation of cell shape	actin filament|apical plasma membrane|basolateral plasma membrane|cortical cytoskeleton|cytosol|extrinsic to membrane|filopodium|microvillus membrane|nucleolus|ruffle membrane	actin filament binding|cell adhesion molecule binding		EZR/ROS1(4)	breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)	15		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-17)|BRCA - Breast invasive adenocarcinoma(81;6.58e-06)		ACAGGGCCTCGAACTCGTCGA	0.607			T	ROS1	NSCLC								51	67					0	0	1	0	0	A	159187958	G	A	159187958	2	1	81	1	0	0	0	0	0	0	0	1	5363	1049	37	1		1	EZR	6	159187958	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	103578	159187958	11927109	5756	9372											
EZR	7430	broad.mit.edu	37	6	159190828	159190828	+	Silent	SNP	G	G	A	rs145874025		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:159190828G>A	ENST00000367075.3	-	11	1407	c.1239C>T	c.(1237-1239)agC>agT	p.S413S	EZR_ENST00000392177.4_Silent_p.S381S|EZR_ENST00000337147.7_Silent_p.S413S	NM_001111077.1	NP_001104547.1	P15311	EZRI_HUMAN	ezrin	413	Interaction with SCYL3.				actin filament bundle assembly|axon guidance|cytoskeletal anchoring at plasma membrane|leukocyte cell-cell adhesion|membrane to membrane docking|regulation of cell shape	actin filament|apical plasma membrane|basolateral plasma membrane|cortical cytoskeleton|cytosol|extrinsic to membrane|filopodium|microvillus membrane|nucleolus|ruffle membrane	actin filament binding|cell adhesion molecule binding		EZR/ROS1(4)	breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)	15		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-17)|BRCA - Breast invasive adenocarcinoma(81;6.58e-06)		GCTGCTCCTGGCTCTTTATCT	0.542			T	ROS1	NSCLC								37	94					0	0	1	0	0	A	159190828	G	A	159190828	2	1	81	1	0	0	0	0	0	0	0	1	5363	1194	42	2		2	EZR	6	159190828	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2870	159190828	11924239	5757	9373											
FNDC1	84624	broad.mit.edu	37	6	159687220	159687220	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:159687220G>A	ENST00000297267.9	+	21	5589	c.5389G>A	c.(5389-5391)Gga>Aga	p.G1797R	FNDC1_ENST00000340366.6_Missense_Mutation_p.G1734R	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	1797						extracellular region				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		AAAGTTCGTGGGAGTTGTTCT	0.458													32	54					0	0	1	0	0	A	159687220	G	A	159687220	3	1	81	1	0	0	0	0	1	0	0	0	6001	1233	43	2	5471	2	FNDC1	6	159687220	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	496392	159687220	11427847	5758	9374											
SOD2	6648	broad.mit.edu	37	6	160113695	160113695	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:160113695T>G	ENST00000538183.2	-	2	384	c.224A>C	c.(223-225)aAg>aCg	p.K75T	SOD2_ENST00000452684.2_Missense_Mutation_p.K75T|SOD2_ENST00000444946.2_Missense_Mutation_p.K75T|SOD2_ENST00000367054.2_Missense_Mutation_p.K75T|SOD2_ENST00000546087.1_Missense_Mutation_p.K29T|SOD2_ENST00000367055.4_Missense_Mutation_p.K75T|SOD2_ENST00000337404.4_Missense_Mutation_p.K75T	NM_000636.2	NP_000627.2	P04179	SODM_HUMAN	superoxide dismutase 2, mitochondrial						age-dependent response to reactive oxygen species|negative regulation of neuron apoptosis|oxygen homeostasis|protein homotetramerization|regulation of transcription from RNA polymerase II promoter|release of cytochrome c from mitochondria|removal of superoxide radicals|vasodilation by acetylcholine involved in regulation of systemic arterial blood pressure		manganese ion binding|superoxide dismutase activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(3)|skin(1)	14		Breast(66;0.000776)|Ovarian(120;0.0303)|Prostate(117;0.103)		OV - Ovarian serous cystadenocarcinoma(65;1.4e-18)|BRCA - Breast invasive adenocarcinoma(81;5.77e-06)		GAACCTACCCTTGGCCAACGC	0.652													6	36					0	0	1	0	0	G	160113695	T	G	160113695	3	3	81	1	0	0	0	0	1	0	0	0	14975	1609	56	5	460	5	SOD2	6	160113695	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	426475	160113695	11001372	5759	9375											
WTAP	9589	broad.mit.edu	37	6	160176190	160176190	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:160176190C>A	ENST00000358372.4	+	8	2495	c.738C>A	c.(736-738)gcC>gcA	p.A246A	SOD2_ENST00000546087.1_Intron	NM_001270531.1|NM_004906.4	NP_001257460.1|NP_004897.2	Q15007	FL2D_HUMAN	Wilms tumor 1 associated protein	246					cell cycle|mRNA processing|RNA splicing	nuclear membrane|nucleolus				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	18		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.75e-18)|BRCA - Breast invasive adenocarcinoma(81;5.93e-06)		AGTCTCAGGCCTCTGCCCCAA	0.522													4	25					0.150653	0.152522	1	1	0	A	160176190	C	A	160176190	2	1	81	1	0	0	0	0	0	0	0	1	17469	668	24	4		4	WTAP	6	160176190	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	62495	160176190	10938877	5760	9376											
WTAP	9589	broad.mit.edu	37	6	160176228	160176228	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:160176228C>A	ENST00000358372.4	+	8	2533	c.776C>A	c.(775-777)cCt>cAt	p.P259H	SOD2_ENST00000546087.1_Intron	NM_001270531.1|NM_004906.4	NP_001257460.1|NP_004897.2	Q15007	FL2D_HUMAN	Wilms tumor 1 associated protein	259					cell cycle|mRNA processing|RNA splicing	nuclear membrane|nucleolus				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	18		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.75e-18)|BRCA - Breast invasive adenocarcinoma(81;5.93e-06)		GCTTCTGAACCTGTAGAACAG	0.557													15	10					0.000219431	0.000239308	1	1	0	A	160176228	C	A	160176228	3	1	81	1	0	0	0	0	1	0	0	0	17469	681	24	4	806	4	WTAP	6	160176228	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	38	160176228	10938839	5761	9377											
PNLDC1	154197	broad.mit.edu	37	6	160237602	160237602	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:160237602C>T	ENST00000610273.1	+	14	1226	c.1055C>T	c.(1054-1056)gCg>gTg	p.A352V	PNLDC1_ENST00000392167.3_Missense_Mutation_p.A363V	NM_001271862.1|NM_173516.1	NP_001258791.1|NP_775787.1	Q8NA58	PNDC1_HUMAN	poly(A)-specific ribonuclease (PARN)-like domain containing 1							integral to membrane|nucleus	nucleic acid binding	p.A352E(2)|p.A352V(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	31		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;1.55e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		CACGAAGCCGCGTATGATGCC	0.468													31	54					0	0	1	0	0	T	160237602	C	T	160237602	3	4	81	1	0	0	0	0	1	0	0	0	12196	768	27	1	1105	1	PNLDC1	6	160237602	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	61374	160237602	10877465	5762	9378											
IGF2R	3482	broad.mit.edu	37	6	160453618	160453618	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:160453618C>T	ENST00000356956.1	+	8	1066	c.918C>T	c.(916-918)tgC>tgT	p.C306C		NM_000876.2	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	306					receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)		AATCCAACTGCCGCTATGAAA	0.428													36	52					0	0	1	0	0	T	160453618	C	T	160453618	2	4	81	1	0	0	0	0	0	0	0	1	7620	747	26	2		2	IGF2R	6	160453618	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	216016	160453618	10661449	5763	9379											
IGF2R	3482	broad.mit.edu	37	6	160468835	160468835	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:160468835C>T	ENST00000356956.1	+	17	2389	c.2241C>T	c.(2239-2241)aaC>aaT	p.N747N		NM_000876.2	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	747					receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)		AAGAGGATAACTCCACCTACA	0.537													29	56					0	0	1	0	0	T	160468835	C	T	160468835	2	4	81	1	0	0	0	0	0	0	0	1	7620	564	20	2		2	IGF2R	6	160468835	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	15217	160468835	10646232	5764	9380											
IGF2R	3482	broad.mit.edu	37	6	160483581	160483581	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:160483581G>T	ENST00000356956.1	+	26	3748	c.3600G>T	c.(3598-3600)caG>caT	p.Q1200H		NM_000876.2	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	1200					receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)		CAGCATTTCAGCTTCAGGATG	0.473													9	30					9.70103e-10	1.17698e-09	1	1	0	T	160483581	G	T	160483581	3	4	81	1	0	0	0	0	1	0	0	0	7620	962	34	4	3702	4	IGF2R	6	160483581	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	14746	160483581	10631486	5765	9381											
IGF2R	3482	broad.mit.edu	37	6	160485509	160485509	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:160485509G>T	ENST00000356956.1	+	28	4111	c.3963G>T	c.(3961-3963)aaG>aaT	p.K1321N		NM_000876.2	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	1321					receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)		CTTGCCATAAGGTTTATCAGC	0.522													15	113					2.32078e-09	2.80257e-09	1	1	0	T	160485509	G	T	160485509	3	4	81	1	0	0	0	0	1	0	0	0	7620	991	35	4	4073	4	IGF2R	6	160485509	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1928	160485509	10629558	5766	9382											
IGF2R	3482	broad.mit.edu	37	6	160496974	160496974	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:160496974G>A	ENST00000356956.1	+	36	5410	c.5262G>A	c.(5260-5262)aaG>aaA	p.K1754K		NM_000876.2	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	1754					receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)		TAGCGGACAAGCATTTCAACT	0.463													10	85					0	0	1	0	0	A	160496974	G	A	160496974	2	1	81	1	0	0	0	0	0	0	0	1	7620	962	34	2		2	IGF2R	6	160496974	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	11465	160496974	10618093	5767	9383											
SLC22A1	6580	broad.mit.edu	37	6	160543249	160543249	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:160543249C>T	ENST00000366963.4	+	1	429	c.282C>T	c.(280-282)gaC>gaT	p.D94D	SLC22A1_ENST00000324965.4_Silent_p.D94D|SLC22A1_ENST00000457470.2_Silent_p.D94D	NM_003057.2|NM_153187.1	NP_003048.1|NP_694857.1	O15245	S22A1_HUMAN	solute carrier family 22 (organic cation transporter), member 1	94						basolateral plasma membrane|integral to plasma membrane|membrane fraction	organic cation transmembrane transporter activity|protein binding		SLC22A1/CUTA(2)	breast(1)|endometrium(3)|large_intestine(3)|lung(13)|upper_aerodigestive_tract(1)	21		Breast(66;0.000776)|Ovarian(120;0.00556)		OV - Ovarian serous cystadenocarcinoma(65;2.73e-17)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)		ATGAAGTGGACTGGAACCAGA	0.667													28	37					0	0	1	0	0	T	160543249	C	T	160543249	2	4	81	1	0	0	0	0	0	0	0	1	14495	564	20	2		2	SLC22A1	6	160543249	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	46275	160543249	10571818	5768	9384											
SLC22A3	6581	broad.mit.edu	37	6	160829798	160829798	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:160829798A>G	ENST00000392145.1	+	4	729	c.702A>G	c.(700-702)gtA>gtG	p.V234V	SLC22A3_ENST00000275300.2_Silent_p.V234V			O75751	S22A3_HUMAN	solute carrier family 22 (organic cation transporter), member 3	234						integral to plasma membrane|membrane fraction	protein binding|quaternary ammonium group transmembrane transporter activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		Breast(66;0.00028)|Ovarian(120;0.0308)|Prostate(117;0.218)		OV - Ovarian serous cystadenocarcinoma(65;9.47e-17)|BRCA - Breast invasive adenocarcinoma(81;9.75e-06)		CAGAAATAGTAGGTTCGAAAC	0.403													4	53					0	0	1	0	0	G	160829798	A	G	160829798	2	3	81	1	0	0	0	0	0	0	0	1	14510	407	15	3		3	SLC22A3	6	160829798	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	286549	160829798	10285269	5769	9385											
SLC22A3	6581	broad.mit.edu	37	6	160864714	160864714	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:160864714G>A	ENST00000392145.1	+	9	1480	c.1453G>A	c.(1453-1455)Gcc>Acc	p.A485T	SLC22A3_ENST00000275300.2_Missense_Mutation_p.A484T			O75751	S22A3_HUMAN	solute carrier family 22 (organic cation transporter), member 3	484						integral to plasma membrane|membrane fraction	protein binding|quaternary ammonium group transmembrane transporter activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		Breast(66;0.00028)|Ovarian(120;0.0308)|Prostate(117;0.218)		OV - Ovarian serous cystadenocarcinoma(65;9.47e-17)|BRCA - Breast invasive adenocarcinoma(81;9.75e-06)		GGGAATCATAGCCCCATTTCT	0.403													20	43					0	0	1	0	0	A	160864714	G	A	160864714	3	1	81	1	0	0	0	0	1	0	0	0	14510	971	34	2	1484	2	SLC22A3	6	160864714	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	34916	160864714	10250353	5770	9386											
LPA	4018	broad.mit.edu	37	6	160999636	160999636	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:160999636G>A	ENST00000447678.1	-	28	4510	c.4390C>T	c.(4390-4392)Cga>Tga	p.R1464*	LPA_ENST00000316300.5_Nonsense_Mutation_p.R1464*	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN	lipoprotein, Lp(a)	3972	Kringle 13.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	ACTGGACATCGTGTCAGGTTG	0.527													9	63					0	0	1	0	0	A	160999636	G	A	160999636	4	1	81	1	0	0	0	0	0	1	0	0	8948	1153	40	1	1784	1	LPA	6	160999636	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	134922	160999636	10115431	5771	9387											
LPA	4018	broad.mit.edu	37	6	161010738	161010738	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:161010738G>A	ENST00000447678.1	-	25	3914	c.3794C>T	c.(3793-3795)aCg>aTg	p.T1265M	LPA_ENST00000316300.5_Missense_Mutation_p.T1265M	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN	lipoprotein, Lp(a)	3773	Kringle 11.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	GCTTTGCTCCGTTGGTGCTGA	0.448													25	23					0	0	1	0	0	A	161010738	G	A	161010738	3	1	81	1	0	0	0	0	1	0	0	0	8948	1145	40	1	2392	1	LPA	6	161010738	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	11102	161010738	10104329	5772	9388											
LPA	4018	broad.mit.edu	37	6	161015120	161015120	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:161015120C>A	ENST00000447678.1	-	23	3619	c.3499G>T	c.(3499-3501)Gat>Tat	p.D1167Y	LPA_ENST00000316300.5_Missense_Mutation_p.D1167Y	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN	lipoprotein, Lp(a)	3675	Kringle 11.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	TGGTAGCAATCCTGGACCCCG	0.478													6	61					0.0381472	0.0389402	1	1	0	A	161015120	C	A	161015120	3	1	81	1	0	0	0	0	1	0	0	0	8948	855	30	5	2695	5	LPA	6	161015120	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	4382	161015120	10099947	5773	9389											
LPA	4018	broad.mit.edu	37	6	161027655	161027655	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:161027655G>T	ENST00000447678.1	-	18	2759	c.2639C>A	c.(2638-2640)cCt>cAt	p.P880H	LPA_ENST00000316300.5_Missense_Mutation_p.P880H	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN	lipoprotein, Lp(a)	3388	Kringle 8.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	GGCTGCCACAGGATCTGGATT	0.537													56	72					1.80625e-27	2.39933e-27	1	1	0	T	161027655	G	T	161027655	3	4	81	1	0	0	0	0	1	0	0	0	8948	1000	35	4	3575	4	LPA	6	161027655	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	12535	161027655	10087412	5774	9390											
PLG	5340	broad.mit.edu	37	6	161137785	161137785	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:161137785C>A	ENST00000308192.9	+	7	840	c.777C>A	c.(775-777)atC>atA	p.I259I		NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	259	Kringle 2.				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	TTTGTGACATCCCCCGCTGCA	0.517													11	29					4.36969e-10	5.3233e-10	1	1	0	A	161137785	C	A	161137785	2	1	81	1	0	0	0	0	0	0	0	1	12134	845	30	5		5	PLG	6	161137785	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	110130	161137785	9977282	5775	9391											
PLG	5340	broad.mit.edu	37	6	161160111	161160111	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:161160111C>A	ENST00000308192.9	+	16	1952	c.1889C>A	c.(1888-1890)cCt>cAt	p.P630H		NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	630	Peptidase S1.				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	TCCCCAAGGCCTTCATCCTAC	0.502													10	80					0.00621372	0.00649472	1	1	0	A	161160111	C	A	161160111	3	1	81	1	0	0	0	0	1	0	0	0	12134	681	24	4	1955	4	PLG	6	161160111	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	22326	161160111	9954956	5776	9392											
PLG	5340	broad.mit.edu	37	6	161173248	161173248	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:161173248G>A	ENST00000308192.9	+	18	2290	c.2227G>A	c.(2227-2229)Gaa>Aaa	p.E743K		NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	743	Peptidase S1.				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	CCAATCCACCGAACTCTGTGC	0.488													19	49					0	0	1	0	0	A	161173248	G	A	161173248	3	1	81	1	0	0	0	0	1	0	0	0	12134	1059	37	1	2301	1	PLG	6	161173248	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	13137	161173248	9941819	5777	9393											
MAP3K4	4216	broad.mit.edu	37	6	161508878	161508878	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:161508878G>A	ENST00000392142.4	+	10	2863	c.2715G>A	c.(2713-2715)aaG>aaA	p.K905K	MAP3K4_ENST00000366919.2_Silent_p.K905K|MAP3K4_ENST00000366920.2_Silent_p.K905K|MAP3K4_ENST00000348824.7_Silent_p.K905K	NM_005922.2	NP_005913	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	905					activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		TTCTGACCAAGCACGGTGATC	0.507													4	50					0	0	1	0	0	A	161508878	G	A	161508878	2	1	81	1	0	0	0	0	0	0	0	1	9302	962	34	2		2	MAP3K4	6	161508878	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	335630	161508878	9606189	5778	9394											
MAP3K4	4216	broad.mit.edu	37	6	161508949	161508949	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:161508949C>A	ENST00000392142.4	+	10	2934	c.2786C>A	c.(2785-2787)cCt>cAt	p.P929H	MAP3K4_ENST00000366919.2_Missense_Mutation_p.P929H|MAP3K4_ENST00000366920.2_Missense_Mutation_p.P929H|MAP3K4_ENST00000348824.7_Missense_Mutation_p.P929H	NM_005922.2	NP_005913	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	929					activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		AAAGTCGTGCCTCAGGTGGAG	0.522													9	29					7.48243e-07	8.64403e-07	1	1	0	A	161508949	C	A	161508949	3	1	81	1	0	0	0	0	1	0	0	0	9302	681	24	4	2824	4	MAP3K4	6	161508949	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	71	161508949	9606118	5779	9395											
AGPAT4	56895	broad.mit.edu	37	6	161587376	161587376	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:161587376C>T	ENST00000320285.4	-	3	464	c.252G>A	c.(250-252)aaG>aaA	p.K84K	AGPAT4_ENST00000457520.2_Intron|AGPAT4_ENST00000366911.5_Intron|AGPAT4_ENST00000366908.5_Silent_p.K84K|AGPAT4_ENST00000366905.3_Silent_p.K84K|AGPAT4_ENST00000366906.5_Silent_p.K22K	NM_020133.2	NP_064518.1	Q9NRZ5	PLCD_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 4	84					phospholipid biosynthetic process	integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity|protein binding			endometrium(1)|large_intestine(10)|lung(10)|ovary(2)|skin(2)	25		Breast(66;0.000289)|Ovarian(120;0.0266)|Prostate(117;0.0285)		OV - Ovarian serous cystadenocarcinoma(65;2.23e-17)|BRCA - Breast invasive adenocarcinoma(81;3.58e-05)		CCTTCCCATACTTGAGGTAGG	0.532													4	49					0	0	1	0	0	T	161587376	C	T	161587376	2	4	81	1	0	0	0	0	0	0	0	1	386	564	20	2		2	AGPAT4	6	161587376	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	78427	161587376	9527691	5780	9396											
PACRG	135138	broad.mit.edu	37	6	163510401	163510401	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:163510401C>T	ENST00000337019.3	+	5	798	c.574C>T	c.(574-576)Caa>Taa	p.Q192*	PACRG_ENST00000366888.2_Nonsense_Mutation_p.Q192*|PACRG_ENST00000366889.2_Nonsense_Mutation_p.Q192*	NM_152410.2	NP_689623.2	Q96M98	PACRG_HUMAN	PARK2 co-regulated	192										endometrium(2)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Breast(66;2.41e-05)|Ovarian(120;0.0245)|Prostate(117;0.0273)|all_neural(5;0.0416)|Glioma(2;0.203)		OV - Ovarian serous cystadenocarcinoma(33;4.31e-19)|GBM - Glioblastoma multiforme(2;7.42e-11)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)|KIRC - Kidney renal clear cell carcinoma(3;0.205)|Kidney(3;0.242)		TTATTACCGTCAAATCCTCCC	0.478													26	32					0	0	1	0	0	T	163510401	C	T	163510401	4	4	81	1	0	0	0	0	0	1	0	0	11417	827	29	2	588	2	PACRG	6	163510401	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1923025	163510401	7604666	5781	9397											
C6orf118	168090	broad.mit.edu	37	6	165706881	165706881	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:165706881G>T	ENST00000543069.1	-	6	1410	c.829C>A	c.(829-831)Ctt>Att	p.L277I	C6orf118_ENST00000230301.8_Intron			Q5T5N4	CF118_HUMAN	chromosome 6 open reading frame 118	0										breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)		CCATAAGGAAGGACATCACAC	0.483													7	120					2.0095e-06	2.30238e-06	1	1	0	T	165706881	G	T	165706881	3	4	81	1	0	0	0	0	1	0	0	0	2337	1015	35	4		4	C6orf118	6	165706881	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2196480	165706881	5408186	5782	9398											
PDE10A	10846	broad.mit.edu	37	6	165749631	165749631	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:165749631G>A	ENST00000366882.1	-	22	2372	c.2218C>T	c.(2218-2220)Cct>Tct	p.P740S	PDE10A_ENST00000354448.4_Missense_Mutation_p.P740S|PDE10A_ENST00000539869.2_Missense_Mutation_p.P750S			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A	740					platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding			breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Dipyridamole(DB00975)	TTCAGAAGAGGCTCCGTGGGA	0.468													16	21					0	0	1	0	0	A	165749631	G	A	165749631	3	1	81	1	0	0	0	0	1	0	0	0	11677	1203	42	2	129	2	PDE10A	6	165749631	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	42750	165749631	5365436	5783	9399											
RPS6KA2	6196	broad.mit.edu	37	6	166831722	166831722	+	Silent	SNP	G	G	A	rs149521975	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:166831722G>A	ENST00000510118.1	-	21	2344	c.2004C>T	c.(2002-2004)gaC>gaT	p.D668D	RPS6KA2_ENST00000481261.2_Silent_p.D554D|RPS6KA2_ENST00000405189.3_Silent_p.D554D|RPS6KA2_ENST00000509742.1_5'UTR|RPS6KA2_ENST00000503859.1_Silent_p.D651D|RPS6KA2_ENST00000265678.4_Silent_p.D643D			Q15349	KS6A2_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 2	643	Protein kinase 2.				axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05)		CTTTAGCTGCGTCAGATATCG	0.473													8	80					0	0	1	0	0	A	166831722	G	A	166831722	2	1	81	1	0	0	0	0	0	0	0	1	13703	1136	40	1		1	RPS6KA2	6	166831722	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1082091	166831722	4283345	5784	9400											
RPS6KA2	6196	broad.mit.edu	37	6	166836766	166836766	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:166836766G>A	ENST00000510118.1	-	19	2136	c.1796C>T	c.(1795-1797)aCg>aTg	p.T599M	RPS6KA2_ENST00000481261.2_Missense_Mutation_p.T485M|RPS6KA2_ENST00000405189.3_Missense_Mutation_p.T485M|RPS6KA2_ENST00000509742.1_5'UTR|RPS6KA2_ENST00000503859.1_Missense_Mutation_p.T582M|RPS6KA2_ENST00000265678.4_Missense_Mutation_p.T574M			Q15349	KS6A2_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 2	574	Protein kinase 2.				axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05)		GAAATTGGCCGTGTAGCAGGG	0.642													13	28					0	0	1	0	0	A	166836766	G	A	166836766	3	1	81	1	0	0	0	0	1	0	0	0	13703	1145	40	1	500	1	RPS6KA2	6	166836766	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	5044	166836766	4278301	5785	9401											
RPS6KA2	6196	broad.mit.edu	37	6	167271707	167271707	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:167271707G>A	ENST00000507747.1	-	8	474	c.475C>T	c.(475-477)Cag>Tag	p.Q159*	RPS6KA2_ENST00000510118.1_Missense_Mutation_p.T35I|RPS6KA2_ENST00000503859.1_Missense_Mutation_p.T35I																							AGTGTCTTCTGTGGTGGGCTC	0.458													11	85					0	0	1	0	0	A	167271707	G	A	167271707	4	1	81	1	0	0	0	0	0	1	0	0	13703	1377	48	2	2308	2	RPS6KA2	6	167271707	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	434941	167271707	3843360	5786	9402											
CCR6	1235	broad.mit.edu	37	6	167549745	167549745	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:167549745C>T	ENST00000341935.5	+	3	579	c.27C>T	c.(25-27)agC>agT	p.S9S	RP11-517H2.6_ENST00000609590.1_RNA|CCR6_ENST00000400926.2_Silent_p.S9S|CCR6_ENST00000349984.4_Silent_p.S9S	NM_031409.3	NP_113597.2	P51684	CCR6_HUMAN	chemokine (C-C motif) receptor 6	9					cellular defense response|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|humoral immune response	integral to plasma membrane	C-C chemokine receptor activity			endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)	14		Breast(66;1.53e-05)|Ovarian(120;0.0606)		OV - Ovarian serous cystadenocarcinoma(33;8.21e-20)|BRCA - Breast invasive adenocarcinoma(81;4.55e-06)|GBM - Glioblastoma multiforme(31;0.00507)		TGAATTTCAGCGATGTTTTCG	0.408													63	103					0	0	1	0	0	T	167549745	C	T	167549745	2	4	81	1	0	0	0	0	0	0	0	1	2967	767	27	1		1	CCR6	6	167549745	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	278038	167549745	3565322	5787	9403											
CCR6	1235	broad.mit.edu	37	6	167549772	167549772	+	Nonsense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:167549772T>G	ENST00000341935.5	+	3	606	c.54T>G	c.(52-54)taT>taG	p.Y18*	RP11-517H2.6_ENST00000609590.1_RNA|CCR6_ENST00000400926.2_Nonsense_Mutation_p.Y18*|CCR6_ENST00000349984.4_Nonsense_Mutation_p.Y18*	NM_031409.3	NP_113597.2	P51684	CCR6_HUMAN	chemokine (C-C motif) receptor 6	18					cellular defense response|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|humoral immune response	integral to plasma membrane	C-C chemokine receptor activity			endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)	14		Breast(66;1.53e-05)|Ovarian(120;0.0606)		OV - Ovarian serous cystadenocarcinoma(33;8.21e-20)|BRCA - Breast invasive adenocarcinoma(81;4.55e-06)|GBM - Glioblastoma multiforme(31;0.00507)		GTGAAGATTATTTTGTGTCAG	0.413													56	87					0	0	1	0	0	G	167549772	T	G	167549772	4	3	81	1	0	0	0	0	0	1	0	0	2967	1500	52	4	60	4	CCR6	6	167549772	Nonsense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	27	167549772	3565295	5788	9404											
UNC93A	54346	broad.mit.edu	37	6	167708048	167708048	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:167708048G>T	ENST00000230256.3	+	2	306	c.131G>T	c.(130-132)aGc>aTc	p.S44I	UNC93A_ENST00000366830.2_3'UTR|UNC93A_ENST00000366829.2_Missense_Mutation_p.S44I	NM_018974.3	NP_061847.2	Q86WB7	UN93A_HUMAN	unc-93 homolog A (C. elegans)	44						integral to membrane|plasma membrane				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	40		Breast(66;7.62e-05)|Ovarian(120;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		ACAGCGCTCAGCACCCTCTAT	0.617													51	56					4.10826e-27	5.45241e-27	1	1	0	T	167708048	G	T	167708048	3	4	81	1	0	0	0	0	1	0	0	0	17056	971	34	4	137	4	UNC93A	6	167708048	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	158276	167708048	3407019	5789	9405											
UNC93A	54346	broad.mit.edu	37	6	167721318	167721318	+	Missense_Mutation	SNP	G	G	A	rs143452023	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:167721318G>A	ENST00000230256.3	+	7	1203	c.1028G>A	c.(1027-1029)cGt>cAt	p.R343H	UNC93A_ENST00000366829.2_Missense_Mutation_p.R301H	NM_018974.3	NP_061847.2	Q86WB7	UN93A_HUMAN	unc-93 homolog A (C. elegans)	343						integral to membrane|plasma membrane				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	40		Breast(66;7.62e-05)|Ovarian(120;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		TGGAGACCTCGTGCTGACCAT	0.617													22	48					0	0	1	0	0	A	167721318	G	A	167721318	3	1	81	1	0	0	0	0	1	0	0	0	17056	1145	40	1	1054	1	UNC93A	6	167721318	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	13270	167721318	3393749	5790	9406											
MLLT4	4301	broad.mit.edu	37	6	168276093	168276093	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:168276093G>T	ENST00000366806.2	+	5	799	c.657G>T	c.(655-657)gaG>gaT	p.E219D	MLLT4_ENST00000400822.3_Missense_Mutation_p.E218D|MLLT4_ENST00000344191.4_Missense_Mutation_p.E219D|MLLT4_ENST00000351017.4_Missense_Mutation_p.E219D|MLLT4_ENST00000392108.3_Missense_Mutation_p.E219D|MLLT4_ENST00000447894.2_Missense_Mutation_p.E219D|MLLT4_ENST00000392112.1_Missense_Mutation_p.E218D			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	219					adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		CTAATCCTGAGGTGGTTATGA	0.423			T	MLL	AL								20	203					1.33834e-09	1.61909e-09	1	1	0	T	168276093	G	T	168276093	3	4	81	1	0	0	0	0	1	0	0	0	9677	991	35	4	675	4	MLLT4	6	168276093	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	554775	168276093	2838974	5791	9407											
MLLT4	4301	broad.mit.edu	37	6	168314887	168314887	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:168314887G>T	ENST00000366806.2	+	16	2219	c.2077G>T	c.(2077-2079)Gca>Tca	p.A693S	MLLT4_ENST00000400822.3_Missense_Mutation_p.A692S|MLLT4_ENST00000344191.4_Missense_Mutation_p.A693S|MLLT4_ENST00000351017.4_Missense_Mutation_p.A700S|MLLT4_ENST00000392108.3_Missense_Mutation_p.A693S|MLLT4_ENST00000447894.2_Missense_Mutation_p.A693S|MLLT4_ENST00000392112.1_Missense_Mutation_p.A677S			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	693	Dilute.				adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		CTTCTGGATGGCAAATGCATC	0.388			T	MLL	AL								5	60					0.014758	0.0152304	1	1	0	T	168314887	G	T	168314887	3	4	81	1	0	0	0	0	1	0	0	0	9677	1203	42	5	2139	5	MLLT4	6	168314887	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	38794	168314887	2800180	5792	9408											
MLLT4	4301	broad.mit.edu	37	6	168352039	168352039	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:168352039G>A	ENST00000366806.2	+	30	4126	c.3984G>A	c.(3982-3984)tcG>tcA	p.S1328S	MLLT4_ENST00000400822.3_Silent_p.S1327S|MLLT4_ENST00000344191.4_Silent_p.S1328S|MLLT4_ENST00000351017.4_Silent_p.S1335S|MLLT4_ENST00000392108.3_Silent_p.S1328S|MLLT4_ENST00000447894.2_Silent_p.S1328S|MLLT4_ENST00000392112.1_Silent_p.S1311S			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	1328					adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		CCTCTAAGTCGGTCACCCCTG	0.547			T	MLL	AL								8	111					0	0	1	0	0	A	168352039	G	A	168352039	2	1	81	1	0	0	0	0	0	0	0	1	9677	1103	39	1		1	MLLT4	6	168352039	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	37152	168352039	2763028	5793	9409											
MLLT4	4301	broad.mit.edu	37	6	168352062	168352062	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:168352062C>T	ENST00000366806.2	+	30	4149	c.4007C>T	c.(4006-4008)aCc>aTc	p.T1336I	MLLT4_ENST00000400822.3_Missense_Mutation_p.T1335I|MLLT4_ENST00000344191.4_Missense_Mutation_p.T1336I|MLLT4_ENST00000351017.4_Missense_Mutation_p.T1343I|MLLT4_ENST00000392108.3_Missense_Mutation_p.T1336I|MLLT4_ENST00000447894.2_Missense_Mutation_p.T1336I|MLLT4_ENST00000392112.1_Missense_Mutation_p.T1319I			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	1336					adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		TCCACACTGACCAAAAGTGGC	0.587			T	MLL	AL								39	86					0	0	1	0	0	T	168352062	C	T	168352062	3	4	81	1	0	0	0	0	1	0	0	0	9677	507	18	2	4121	2	MLLT4	6	168352062	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	23	168352062	2763005	5794	9410											
KIF25	3834	broad.mit.edu	37	6	168445637	168445637	+	Silent	SNP	G	G	A	rs139018818		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:168445637G>A	ENST00000443060.2	+	10	1507	c.1116G>A	c.(1114-1116)ccG>ccA	p.P372P	KIF25_ENST00000354419.2_Silent_p.P372P|KIF25_ENST00000351261.3_Silent_p.P320P			Q9UIL4	KIF25_HUMAN	kinesin family member 25	372					microtubule-based movement|mitotic sister chromatid segregation	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity			NS(2)|breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		Breast(66;1.07e-05)|Ovarian(120;0.0728)		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)		GAAAGAAGCCGCCCAGCTCCC	0.547													26	40					0	0	1	0	0	A	168445637	G	A	168445637	2	1	81	1	0	0	0	0	0	0	0	1	8335	1074	38	1		1	KIF25	6	168445637	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	93575	168445637	2669430	5795	9411											
THBS2	7058	broad.mit.edu	37	6	169622506	169622506	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:169622506C>T	ENST00000366787.3	-	20	3308	c.3059G>A	c.(3058-3060)cGg>cAg	p.R1020Q	XXyac-YX65C7_A.2_ENST00000444188.1_RNA|THBS2_ENST00000488355.1_5'UTR	NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	1020	TSP C-terminal.				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity			NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		GTCGTCGTCCCGGTCAGTGTT	0.522													4	41					0	0	1	0	0	T	169622506	C	T	169622506	3	4	81	1	0	0	0	0	1	0	0	0	15914	652	23	1	475	1	THBS2	6	169622506	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1176869	169622506	1492561	5796	9412											
THBS2	7058	broad.mit.edu	37	6	169622519	169622519	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:169622519C>T	ENST00000366787.3	-	20	3295	c.3046G>A	c.(3046-3048)Gta>Ata	p.V1016I	XXyac-YX65C7_A.2_ENST00000444188.1_RNA|THBS2_ENST00000488355.1_5'UTR	NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	1016	TSP C-terminal.				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity			NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		TCAGTGTTTACGTAGAATGTG	0.522													23	37					0	0	1	0	0	T	169622519	C	T	169622519	3	4	81	1	0	0	0	0	1	0	0	0	15914	536	19	1	488	1	THBS2	6	169622519	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	13	169622519	1492548	5797	9413											
THBS2	7058	broad.mit.edu	37	6	169637723	169637723	+	Missense_Mutation	SNP	G	G	A	rs148970069	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:169637723G>A	ENST00000366787.3	-	9	1546	c.1297C>T	c.(1297-1299)Cgc>Tgc	p.R433C	XXyac-YX65C7_A.2_ENST00000444188.1_RNA	NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	433					cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity			NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		CACTCACTGCGGGTGTCACAC	0.647													5	46					0	0	1	0	0	A	169637723	G	A	169637723	3	1	81	1	0	0	0	0	1	0	0	0	15914	1116	39	1	2281	1	THBS2	6	169637723	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	15204	169637723	1477344	5798	9414											
THBS2	7058	broad.mit.edu	37	6	169641932	169641932	+	Silent	SNP	C	C	T	rs145867791	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:169641932C>T	ENST00000366787.3	-	6	1065	c.816G>A	c.(814-816)gaG>gaA	p.E272E		NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	272					cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity			NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		TGTTTCCCAGCTCCTCGCACG	0.657													34	34					0	0	1	0	0	T	169641932	C	T	169641932	2	4	81	1	0	0	0	0	0	0	0	1	15914	796	28	2		2	THBS2	6	169641932	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	4209	169641932	1473135	5799	9415											
WDR27	253769	broad.mit.edu	37	6	170033068	170033068	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:170033068G>A	ENST00000333572.6	-	21	2717	c.2198C>T	c.(2197-2199)cCt>cTt	p.P733L	WDR27_ENST00000448612.1_Missense_Mutation_p.P733L|WDR27_ENST00000546525.1_5'UTR|WDR27_ENST00000423258.1_Missense_Mutation_p.P606L			A2RRH5	WDR27_HUMAN	WD repeat domain 27	703										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1)	12		Breast(66;1.53e-05)|Ovarian(120;0.216)		OV - Ovarian serous cystadenocarcinoma(33;6.48e-20)|BRCA - Breast invasive adenocarcinoma(81;3.56e-07)|GBM - Glioblastoma multiforme(31;0.00168)		TTGATGGACAGGCCGTGAGTG	0.468													8	13					0	0	1	0	0	A	170033068	G	A	170033068	3	1	81	1	0	0	0	0	1	0	0	0	17344	1000	35	2	395	2	WDR27	6	170033068	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	391136	170033068	1081999	5800	9416											
WDR27	253769	broad.mit.edu	37	6	170064353	170064353	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:170064353G>A	ENST00000333572.6	-	8	1332	c.813C>T	c.(811-813)caC>caT	p.H271H	WDR27_ENST00000448612.1_Silent_p.H271H|WDR27_ENST00000546525.1_5'UTR|WDR27_ENST00000420344.2_3'UTR|WDR27_ENST00000423258.1_Silent_p.H144H			A2RRH5	WDR27_HUMAN	WD repeat domain 27	241										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1)	12		Breast(66;1.53e-05)|Ovarian(120;0.216)		OV - Ovarian serous cystadenocarcinoma(33;6.48e-20)|BRCA - Breast invasive adenocarcinoma(81;3.56e-07)|GBM - Glioblastoma multiforme(31;0.00168)		GACGATAATGGTGTCCATCCA	0.522													11	22					0	0	1	0	0	A	170064353	G	A	170064353	2	1	81	1	0	0	0	0	0	0	0	1	17344	1252	44	2		2	WDR27	6	170064353	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	31285	170064353	1050714	5801	9417											
FAM120B	84498	broad.mit.edu	37	6	170626873	170626873	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:170626873T>A	ENST00000476287.1	+	2	503	c.395T>A	c.(394-396)tTc>tAc	p.F132Y	FAM120B_ENST00000252510.9_Intron|FAM120B_ENST00000537664.1_Missense_Mutation_p.F155Y|FAM120B_ENST00000540480.1_Missense_Mutation_p.F144Y	NM_032448.1	NP_115824.1	Q96EK7	F120B_HUMAN	family with sequence similarity 120B	132					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(2)	44		Breast(66;0.000338)|Esophageal squamous(34;0.241)		OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899)		AATATGTTCTTCATCCCCTCA	0.453													34	68					0	0	1	0	0	A	170626873	T	A	170626873	3	1	81	1	0	0	0	0	1	0	0	0	5448	1783	62	5	397	5	FAM120B	6	170626873	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	562520	170626873	488194	5802	9418											
PDCD2	5134	broad.mit.edu	37	6	170889156	170889156	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:170889156T>C	ENST00000541970.1	-	4	774	c.696A>G	c.(694-696)aaA>aaG	p.K232K	PDCD2_ENST00000542896.1_Silent_p.K232K|PDCD2_ENST00000392090.2_Silent_p.K199K	NM_001199462.1|NM_002598.3	NP_001186391.1|NP_002589.2	Q16342	PDCD2_HUMAN	programmed cell death 2	232					apoptosis	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(1)|lung(5)	9		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;6.91e-23)|BRCA - Breast invasive adenocarcinoma(81;4.82e-06)|GBM - Glioblastoma multiforme(31;0.142)		TGGATTCATGTTTTGCCATGG	0.393													5	44					0	0	1	0	0	C	170889156	T	C	170889156	2	2	81	1	0	0	0	0	0	0	0	1	11666	1722	60	3		3	PDCD2	6	170889156	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	262283	170889156	225911	5803	9419											
FAM20C	56975	broad.mit.edu	37	7	195656	195656	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:195656C>T	ENST00000313766.5	+	2	939	c.708C>T	c.(706-708)taC>taT	p.Y236Y	FAM20C_ENST00000471328.1_3'UTR	NM_020223.3	NP_064608.2	Q8IXL6	DMP4_HUMAN	family with sequence similarity 20, member C	236						extracellular region				endometrium(1)|lung(2)|urinary_tract(1)	4		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.57e-17)|Epithelial(4;1.26e-16)|all cancers(6;4.79e-14)		TCAACCGGTACGAGCTGTACT	0.617													51	24					0	0	1	0	0	T	195656	C	T	195656	2	4	81	1	0	0	0	0	0	0	0	1	5571	547	19	1		1	FAM20C	7	195656	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08		195656	158943007	5804	9420											
HEATR2	54919	broad.mit.edu	37	7	794228	794228	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:794228C>T	ENST00000297440.6	+	5	1047	c.1027C>T	c.(1027-1029)Cgc>Tgc	p.R343C	HEATR2_ENST00000313147.5_Missense_Mutation_p.R343C	NM_017802.3	NP_060272.3	Q86Y56	HEAT2_HUMAN	HEAT repeat containing 2	343							protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(4)|skin(1)	22		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0182)|Epithelial(4;5.48e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.95e-16)|all cancers(6;2.98e-14)		CGTTCCAGAGCGCCGCCCTGT	0.547													147	100					0	0	1	0	0	T	794228	C	T	794228	3	4	81	1	0	0	0	0	1	0	0	0	7069	768	27	1	1045	1	HEATR2	7	794228	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	598572	794228	158344435	5805	9421											
HEATR2	54919	broad.mit.edu	37	7	794424	794424	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:794424C>T	ENST00000297440.6	+	5	1243	c.1223C>T	c.(1222-1224)gCc>gTc	p.A408V	HEATR2_ENST00000313147.5_Missense_Mutation_p.A408V	NM_017802.3	NP_060272.3	Q86Y56	HEAT2_HUMAN	HEAT repeat containing 2	408							protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(4)|skin(1)	22		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0182)|Epithelial(4;5.48e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.95e-16)|all cancers(6;2.98e-14)		CTGTTCCAGGCCTGCACCGAC	0.637													18	3					0	0	1	0	0	T	794424	C	T	794424	3	4	81	1	0	0	0	0	1	0	0	0	7069	739	26	2	1241	2	HEATR2	7	794424	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	196	794424	158344239	5806	9422											
INTS1	26173	broad.mit.edu	37	7	1518100	1518100	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:1518100C>T	ENST00000389470.4	-	34	5128	c.5129G>A	c.(5128-5130)cGt>cAt	p.R1710H	INTS1_ENST00000404767.3_Missense_Mutation_p.R1511H			Q8N201	INT1_HUMAN	integrator complex subunit 1	1511					snRNA processing	integral to membrane|integrator complex|nuclear membrane				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		CAGGTCCTGACGGAAGGCCAG	0.677													26	12					0	0	1	0	0	T	1518100	C	T	1518100	3	4	81	1	0	0	0	0	1	0	0	0	7819	536	19	1	2104	1	INTS1	7	1518100	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	723676	1518100	157620563	5807	9423											
LFNG	3955	broad.mit.edu	37	7	2565976	2565976	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:2565976G>A	ENST00000222725.5	+	6	940	c.920G>A	c.(919-921)cGc>cAc	p.R307H	LFNG_ENST00000359574.3_Missense_Mutation_p.R307H|LFNG_ENST00000402045.1_Missense_Mutation_p.R178H|LFNG_ENST00000402506.1_Missense_Mutation_p.R236H|LFNG_ENST00000338732.3_Missense_Mutation_p.R178H	NM_001040167.1	NP_001035257.1	Q8NES3	LFNG_HUMAN	LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase	307					organ morphogenesis	extracellular region|integral to Golgi membrane	O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|ovary(1)|urinary_tract(2)	6		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;2.54e-14)		CCCCTCATCCGCAGCGGCCTC	0.667													65	29					0	0	1	0	0	A	2565976	G	A	2565976	3	1	81	1	0	0	0	0	1	0	0	0	8776	1087	38	1	1218	1	LFNG	7	2565976	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1047876	2565976	156572687	5808	9424											
CARD11	84433	broad.mit.edu	37	7	2984158	2984158	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:2984158G>A	ENST00000396946.4	-	5	775	c.372C>T	c.(370-372)caC>caT	p.H124H	AC004906.3_ENST00000423194.1_RNA	NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	124					positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		TGAGGCCCTCGTGGCCTTCCT	0.612			Mis		DLBCL								4	26					0	0	1	0	0	A	2984158	G	A	2984158	2	1	81	1	0	0	0	0	0	0	0	1	2663	1136	40	1		1	CARD11	7	2984158	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	418182	2984158	156154505	5809	9425											
SDK1	221935	broad.mit.edu	37	7	4089042	4089042	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:4089042C>A	ENST00000404826.2	+	18	2804	c.2665C>A	c.(2665-2667)Ctg>Atg	p.L889M	SDK1_ENST00000389531.3_Missense_Mutation_p.L889M	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	889	Fibronectin type-III 3.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CATTCAGTTCCTGTGGAACCC	0.577													4	12					0.248553	0.249876	1	1	0	A	4089042	C	A	4089042	3	1	81	1	0	0	0	0	1	0	0	0	14022	680	24	4	2735	4	SDK1	7	4089042	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1104884	4089042	155049621	5810	9426											
SDK1	221935	broad.mit.edu	37	7	4260953	4260953	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:4260953C>T	ENST00000404826.2	+	40	5923	c.5784C>T	c.(5782-5784)ggC>ggT	p.G1928G	SDK1_ENST00000389531.3_Silent_p.G1908G	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1928	Fibronectin type-III 13.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		GACACTCTGGCGACACACCTA	0.622													4	6					0	0	1	0	0	T	4260953	C	T	4260953	2	4	81	1	0	0	0	0	0	0	0	1	14022	755	27	1		1	SDK1	7	4260953	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	171911	4260953	154877710	5811	9427											
RADIL	55698	broad.mit.edu	37	7	4855923	4855923	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:4855923C>T	ENST00000399583.3	-	8	2089	c.1902G>A	c.(1900-1902)tcG>tcA	p.S634S	RADIL_ENST00000538469.1_Silent_p.S394S|RADIL_ENST00000536091.1_3'UTR	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN	Ras association and DIL domains	634	Dilute.				cell adhesion|multicellular organismal development|signal transduction		protein binding			NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		CGAGCATCTGCGAGGCCACCT	0.682													10	3					0	0	1	0	0	T	4855923	C	T	4855923	2	4	81	1	0	0	0	0	0	0	0	1	13049	755	27	1		1	RADIL	7	4855923	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	594970	4855923	154282740	5812	9428											
RBAK	57786	broad.mit.edu	37	7	5104164	5104164	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:5104164T>C	ENST00000396912.1	+	5	1596	c.1077T>C	c.(1075-1077)caT>caC	p.H359H	RBAK-RBAKDN_ENST00000396904.2_Intron|RBAK_ENST00000353796.3_Silent_p.H359H|RBAK-RBAKDN_ENST00000407184.1_Intron	NM_021163.3	NP_066986.1	Q9NYW8	RBAK_HUMAN	RB-associated KRAB zinc finger	359					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			NS(1)|kidney(1)|large_intestine(2)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	10		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0916)|OV - Ovarian serous cystadenocarcinoma(56;2.44e-14)		AAAAGACACATCTCACCCTGC	0.473													39	38					0	0	1	0	0	C	5104164	T	C	5104164	2	2	81	1	0	0	0	0	0	0	0	1	13152	1432	50	3		3	RBAK	7	5104164	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	248241	5104164	154034499	5813	9429											
WIPI2	26100	broad.mit.edu	37	7	5232791	5232791	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:5232791C>T	ENST00000288828.4	+	2	349	c.117C>T	c.(115-117)cgC>cgT	p.R39R	WIPI2_ENST00000485854.1_Intron|WIPI2_ENST00000404704.3_Silent_p.R39R|WIPI2_ENST00000401525.3_Intron|WIPI2_ENST00000382384.2_Intron	NM_001033518.1|NM_001278299.1|NM_015610.3	NP_001028690.1|NP_001265228.1|NP_056425.1	Q9Y4P8	WIPI2_HUMAN	WD repeat domain, phosphoinositide interacting 2	39					autophagic vacuole assembly	cytosol|PAS complex|pre-autophagosomal structure membrane	phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)	16		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0925)|OV - Ovarian serous cystadenocarcinoma(56;2.59e-14)		TTGGCCGTCGCGCTGTTGTCT	0.388													11	150					0	0	1	0	0	T	5232791	C	T	5232791	2	4	81	1	0	0	0	0	0	0	0	1	17431	755	27	1		1	WIPI2	7	5232791	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	128627	5232791	153905872	5814	9430											
SLC29A4	222962	broad.mit.edu	37	7	5327557	5327557	+	Missense_Mutation	SNP	C	C	T	rs137876561	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:5327557C>T	ENST00000396872.3	+	2	271	c.110C>T	c.(109-111)gCg>gTg	p.A37V	SLC29A4_ENST00000406453.3_Missense_Mutation_p.A37V|SLC29A4_ENST00000297195.4_Missense_Mutation_p.A37V			Q7RTT9	S29A4_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 4						nucleobase, nucleoside and nucleotide metabolic process	apical plasma membrane|integral to membrane	nucleoside transmembrane transporter activity			breast(1)|cervix(2)|kidney(7)|large_intestine(1)|liver(1)|lung(7)|urinary_tract(1)	20		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0903)|OV - Ovarian serous cystadenocarcinoma(56;2.65e-15)		GAGGAGGCGGCGGAGGCGGCT	0.667													5	27					0	0	1	0	0	T	5327557	C	T	5327557	3	4	81	1	0	0	0	0	1	0	0	0	14592	768	27	1	112	1	SLC29A4	7	5327557	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	94766	5327557	153811106	5815	9431											
SLC29A4	222962	broad.mit.edu	37	7	5330479	5330479	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:5330479C>T	ENST00000396872.3	+	3	447	c.286C>T	c.(286-288)Cat>Tat	p.H96Y	SLC29A4_ENST00000406453.3_Missense_Mutation_p.H96Y|SLC29A4_ENST00000297195.4_Missense_Mutation_p.H96Y			Q7RTT9	S29A4_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 4						nucleobase, nucleoside and nucleotide metabolic process	apical plasma membrane|integral to membrane	nucleoside transmembrane transporter activity			breast(1)|cervix(2)|kidney(7)|large_intestine(1)|liver(1)|lung(7)|urinary_tract(1)	20		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0903)|OV - Ovarian serous cystadenocarcinoma(56;2.65e-15)		GGACTACCTGCATCACAAGTA	0.627													9	71					0	0	1	0	0	T	5330479	C	T	5330479	3	4	81	1	0	0	0	0	1	0	0	0	14592	710	25	2	292	2	SLC29A4	7	5330479	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2922	5330479	153808184	5816	9432											
SLC29A4	222962	broad.mit.edu	37	7	5338707	5338707	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:5338707G>A	ENST00000396872.3	+	8	1132	c.971G>A	c.(970-972)cGc>cAc	p.R324H	SLC29A4_ENST00000406453.3_Missense_Mutation_p.R310H|SLC29A4_ENST00000297195.4_Missense_Mutation_p.R324H			Q7RTT9	S29A4_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 4						nucleobase, nucleoside and nucleotide metabolic process	apical plasma membrane|integral to membrane	nucleoside transmembrane transporter activity			breast(1)|cervix(2)|kidney(7)|large_intestine(1)|liver(1)|lung(7)|urinary_tract(1)	20		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0903)|OV - Ovarian serous cystadenocarcinoma(56;2.65e-15)		GCCTACATGCGCTTTGATGTG	0.711													18	8					0	0	1	0	0	A	5338707	G	A	5338707	3	1	81	1	0	0	0	0	1	0	0	0	14592	1087	38	1	997	1	SLC29A4	7	5338707	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	8228	5338707	153799956	5817	9433											
TNRC18	84629	broad.mit.edu	37	7	5347924	5347924	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:5347924G>A	ENST00000399537.4	-	30	9068	c.8720C>T	c.(8719-8721)tCg>tTg	p.S2907L	TNRC18_ENST00000430969.1_Missense_Mutation_p.S2907L			O15417	TNC18_HUMAN	trinucleotide repeat containing 18	2907	BAH.						DNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		GTCCACATGCGAGGACTGGTA	0.627													14	6					0	0	1	0	0	A	5347924	G	A	5347924	3	1	81	1	0	0	0	0	1	0	0	0	16399	1059	37	1	190	1	TNRC18	7	5347924	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	9217	5347924	153790739	5818	9434											
TNRC18	84629	broad.mit.edu	37	7	5348995	5348995	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:5348995C>T	ENST00000399537.4	-	28	8741	c.8393G>A	c.(8392-8394)cGt>cAt	p.R2798H	TNRC18_ENST00000430969.1_Missense_Mutation_p.R2798H			O15417	TNC18_HUMAN	trinucleotide repeat containing 18	2798							DNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		CTTCATGCCACGCCGCTGCAA	0.682													5	11					0	0	1	0	0	T	5348995	C	T	5348995	3	4	81	1	0	0	0	0	1	0	0	0	16399	536	19	1	525	1	TNRC18	7	5348995	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1071	5348995	153789668	5819	9435											
TNRC18	84629	broad.mit.edu	37	7	5399145	5399145	+	Silent	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:5399145T>G	ENST00000399537.4	-	15	5065	c.4717A>C	c.(4717-4719)Aga>Cga	p.R1573R	TNRC18_ENST00000430969.1_Silent_p.R1573R			O15417	TNC18_HUMAN	trinucleotide repeat containing 18	1573							DNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		TGTCTCTTTCTTATCCCTGCT	0.557													130	84					0	0	1	0	0	G	5399145	T	G	5399145	2	3	81	1	0	0	0	0	0	0	0	1	16399	1617	56	5		5	TNRC18	7	5399145	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	50150	5399145	153739518	5820	9436											
FBXL18	80028	broad.mit.edu	37	7	5529774	5529774	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:5529774C>T	ENST00000453700.3	-	5	2187	c.2070G>A	c.(2068-2070)acG>acA	p.T690T	FBXL18_ENST00000382368.3_Intron			Q96ME1	FXL18_HUMAN	F-box and leucine-rich repeat protein 18	690									FBXL18/RNF216(2)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)	21		Ovarian(82;0.0607)		UCEC - Uterine corpus endometrioid carcinoma (126;0.181)|OV - Ovarian serous cystadenocarcinoma(56;3.64e-13)		TGGCTCGAGACGTCCTGGCTG	0.607													4	14					0	0	1	0	0	T	5529774	C	T	5529774	2	4	81	1	0	0	0	0	0	0	0	1	5747	551	19	1		1	FBXL18	7	5529774	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	130629	5529774	153608889	5821	9437											
FBXL18	80028	broad.mit.edu	37	7	5540990	5540990	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:5540990C>T	ENST00000382368.3	-	3	1033	c.910G>A	c.(910-912)Ggc>Agc	p.G304S	FBXL18_ENST00000453700.3_Missense_Mutation_p.G304S	NM_024963.4	NP_079239.3	Q96ME1	FXL18_HUMAN	F-box and leucine-rich repeat protein 18	304									FBXL18/RNF216(2)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)	21		Ovarian(82;0.0607)		UCEC - Uterine corpus endometrioid carcinoma (126;0.181)|OV - Ovarian serous cystadenocarcinoma(56;3.64e-13)		AGGGAAGAGCCGTTCAGCCAG	0.592													14	22					0	0	1	0	0	T	5540990	C	T	5540990	3	4	81	1	0	0	0	0	1	0	0	0	5747	652	23	1	1258	1	FBXL18	7	5540990	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	11216	5540990	153597673	5822	9438											
ACTB	60	broad.mit.edu	37	7	5568063	5568063	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:5568063G>A	ENST00000331789.5	-	4	842	c.651C>T	c.(649-651)tgC>tgT	p.C217C		NM_001101.3	NP_001092.1	P60709	ACTB_HUMAN	actin, beta	217					'de novo' posttranslational protein folding|adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement	cytoskeleton|cytosol|MLL5-L complex|NuA4 histone acetyltransferase complex|ribonucleoprotein complex	ATP binding|kinesin binding|nitric-oxide synthase binding|structural constituent of cytoskeleton			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(2)	8		Ovarian(82;0.0606)		UCEC - Uterine corpus endometrioid carcinoma (126;0.175)|OV - Ovarian serous cystadenocarcinoma(56;4.24e-37)		GGGCGACGTAGCACAGCTTCT	0.592													59	34					0	0	1	0	0	A	5568063	G	A	5568063	2	1	81	1	0	0	0	0	0	0	0	1	193	963	34	2		2	ACTB	7	5568063	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	27073	5568063	153570600	5823	9439											
FSCN1	6624	broad.mit.edu	37	7	5643168	5643168	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:5643168G>A	ENST00000382361.3	+	3	1145	c.1031G>A	c.(1030-1032)cGc>cAc	p.R344H	FSCN1_ENST00000340250.6_Missense_Mutation_p.R323H	NM_003088.3	NP_003079.1	Q16658	FSCN1_HUMAN	fascin homolog 1, actin-bundling protein (Strongylocentrotus purpuratus)	344					actin filament bundle assembly|cell migration|cell proliferation	cell junction|cytoplasm|filopodium|invadopodium|stress fiber	actin filament binding|drug binding|protein binding, bridging			central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	9		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;1.21e-13)		CGTGACCGGCGCATCACACTG	0.622													10	48					0	0	1	0	0	A	5643168	G	A	5643168	3	1	81	1	0	0	0	0	1	0	0	0	6102	1087	38	1	1041	1	FSCN1	7	5643168	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	75105	5643168	153495495	5824	9440											
FSCN1	6624	broad.mit.edu	37	7	5645040	5645040	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:5645040G>A	ENST00000382361.3	+	5	1531	c.1417G>A	c.(1417-1419)Gac>Aac	p.D473N	FSCN1_ENST00000340250.6_Missense_Mutation_p.D452N	NM_003088.3	NP_003079.1	Q16658	FSCN1_HUMAN	fascin homolog 1, actin-bundling protein (Strongylocentrotus purpuratus)	473					actin filament bundle assembly|cell migration|cell proliferation	cell junction|cytoplasm|filopodium|invadopodium|stress fiber	actin filament binding|drug binding|protein binding, bridging			central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	9		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;1.21e-13)		CCTGAAGGGCGACCACGCAGG	0.667													16	9					0	0	1	0	0	A	5645040	G	A	5645040	3	1	81	1	0	0	0	0	1	0	0	0	6102	1058	37	1	1435	1	FSCN1	7	5645040	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1872	5645040	153493623	5825	9441											
RNF216	54476	broad.mit.edu	37	7	5692115	5692115	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:5692115G>A	ENST00000425013.2	-	14	2141	c.1917C>T	c.(1915-1917)ctC>ctT	p.L639L	RNF216_ENST00000389902.3_Silent_p.L696L	NM_207111.3|NM_207116.2	NP_996994.1|NP_996999.1	Q9NWF9	RN216_HUMAN	ring finger protein 216	639					apoptosis|interspecies interaction between organisms|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination|regulation of defense response to virus by host|regulation of interferon-beta production	cytoplasm|nucleus	ligase activity|protein binding|zinc ion binding		FBXL18/RNF216(2)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|urinary_tract(4)	33		Ovarian(82;0.07)		UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13)		GTTCTTTCCAGAGTCCCTGAC	0.478													6	174					0	0	1	0	0	A	5692115	G	A	5692115	2	1	81	1	0	0	0	0	0	0	0	1	13532	929	33	2		2	RNF216	7	5692115	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	47075	5692115	153446548	5826	9442											
RNF216	54476	broad.mit.edu	37	7	5781361	5781361	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:5781361G>T	ENST00000389902.3	-	4	554	c.287C>A	c.(286-288)cCt>cAt	p.P96H	RNF216_ENST00000425013.2_Intron			Q9NWF9	RN216_HUMAN	ring finger protein 216	64					apoptosis|interspecies interaction between organisms|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination|regulation of defense response to virus by host|regulation of interferon-beta production	cytoplasm|nucleus	ligase activity|protein binding|zinc ion binding		FBXL18/RNF216(2)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|urinary_tract(4)	33		Ovarian(82;0.07)		UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13)		AGACTTTTTAGGCCTTTCTTC	0.413													7	201					0.000157383	0.000171784	1	1	0	T	5781361	G	T	5781361	3	4	81	1	0	0	0	0	1	0	0	0	13532	1000	35	4	2540	4	RNF216	7	5781361	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	89246	5781361	153357302	5827	9443											
PMS2	5395	broad.mit.edu	37	7	6026903	6026903	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:6026903C>A	ENST00000265849.7	-	11	1598	c.1493G>T	c.(1492-1494)aGc>aTc	p.S498I	PMS2_ENST00000406569.3_Missense_Mutation_p.S498I|PMS2_ENST00000469652.1_Intron|PMS2_ENST00000382321.4_Intron|PMS2_ENST00000441476.2_Missense_Mutation_p.S392I	NM_000535.5	NP_000526	P54278	PMS2_HUMAN	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)	498					mismatch repair|reciprocal meiotic recombination|somatic hypermutation of immunoglobulin genes	MutLalpha complex	ATP binding|ATPase activity|endonuclease activity|protein binding|single base insertion or deletion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)		CACGGAAGTGCTGCCGTGCCC	0.627			"Mis, N, F"			"colorectal, endometrial, ovarian, medulloblastoma, glioma"		Direct reversal of damage;Mismatch excision repair (MMR)	Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				7	102					8.12818e-05	8.94031e-05	1	1	0	A	6026903	C	A	6026903	3	1	81	1	0	0	0	0	1	0	0	0	12191	797	28	4	1115	4	PMS2	7	6026903	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	245542	6026903	153111760	5828	9444											
PMS2	5395	broad.mit.edu	37	7	6042121	6042121	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:6042121G>A	ENST00000265849.7	-	5	605	c.500C>T	c.(499-501)cCt>cTt	p.P167L	PMS2_ENST00000469652.1_Intron|PMS2_ENST00000406569.3_Missense_Mutation_p.P167L|PMS2_ENST00000382321.4_Missense_Mutation_p.P167L|PMS2_ENST00000441476.2_Missense_Mutation_p.P61L	NM_000535.5	NP_000526	P54278	PMS2_HUMAN	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)	167					mismatch repair|reciprocal meiotic recombination|somatic hypermutation of immunoglobulin genes	MutLalpha complex	ATP binding|ATPase activity|endonuclease activity|protein binding|single base insertion or deletion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)		ATGGCGCACAGGTAGTGTGGA	0.423			"Mis, N, F"			"colorectal, endometrial, ovarian, medulloblastoma, glioma"		Direct reversal of damage;Mismatch excision repair (MMR)	Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				63	68					0	0	1	0	0	A	6042121	G	A	6042121	3	1	81	1	0	0	0	0	1	0	0	0	12191	1000	35	2	2132	2	PMS2	7	6042121	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	15218	6042121	153096542	5829	9445											
PMS2	5395	broad.mit.edu	37	7	6043351	6043351	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:6043351C>T	ENST00000265849.7	-	4	428	c.323G>A	c.(322-324)gGg>gAg	p.G108E	PMS2_ENST00000469652.1_Intron|PMS2_ENST00000406569.3_Missense_Mutation_p.G108E|PMS2_ENST00000382321.4_Missense_Mutation_p.G108E|PMS2_ENST00000441476.2_Intron	NM_000535.5	NP_000526	P54278	PMS2_HUMAN	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)	108					mismatch repair|reciprocal meiotic recombination|somatic hypermutation of immunoglobulin genes	MutLalpha complex	ATP binding|ATPase activity|endonuclease activity|protein binding|single base insertion or deletion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)		CAGAGCTTCCCCCCGAAAGCC	0.403			"Mis, N, F"			"colorectal, endometrial, ovarian, medulloblastoma, glioma"		Direct reversal of damage;Mismatch excision repair (MMR)	Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				17	44					0	0	1	0	0	T	6043351	C	T	6043351	3	4	81	1	0	0	0	0	1	0	0	0	12191	623	22	2	2313	2	PMS2	7	6043351	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1230	6043351	153095312	5830	9446											
AIMP2	7965	broad.mit.edu	37	7	6054859	6054859	+	Missense_Mutation	SNP	T	T	C	rs150139402		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:6054859T>C	ENST00000223029.3	+	2	337	c.218T>C	c.(217-219)gTt>gCt	p.V73A	AIMP2_ENST00000400479.2_5'UTR|AIMP2_ENST00000395236.2_Intron	NM_006303.3	NP_006294.2	Q13155	AIMP2_HUMAN	aminoacyl tRNA synthetase complex-interacting multifunctional protein 2	73					apoptosis|cell differentiation|multicellular organismal development|tRNA aminoacylation for protein translation	cytosol|nucleus	protein binding			large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						AAAGCTGCAGTTGATGGCCTC	0.458													9	122					0	0	1	0	0	C	6054859	T	C	6054859	3	2	81	1	0	0	0	0	1	0	0	0	431	1725	60	3	224	3	AIMP2	7	6054859	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	11508	6054859	153083804	5831	9447											
EIF2AK1	27102	broad.mit.edu	37	7	6078266	6078266	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:6078266G>A	ENST00000199389.6	-	10	1302	c.1156C>T	c.(1156-1158)Ctg>Ttg	p.L386L	EIF2AK1_ENST00000536084.1_Silent_p.L262L	NM_001134335.1|NM_014413.3	NP_001127807.1|NP_055228.2	Q9BQI3	E2AK1_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 1	386	Protein kinase.				negative regulation of hemoglobin biosynthetic process|negative regulation of translational initiation by iron|protein autophosphorylation|response to external stimulus|response to stress	cytoplasm	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|heme binding|protein homodimerization activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	27		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.106)|OV - Ovarian serous cystadenocarcinoma(56;5.22e-14)		AGCTCACACAGCTGCATCTGG	0.547													31	78					0	0	1	0	0	A	6078266	G	A	6078266	2	1	81	1	0	0	0	0	0	0	0	1	5022	962	34	2		2	EIF2AK1	7	6078266	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	23407	6078266	153060397	5832	9448											
RAC1	5879	broad.mit.edu	37	7	6426844	6426844	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:6426844G>A	ENST00000348035.4	+	2	250	c.37G>A	c.(37-39)Gct>Act	p.A13T	RAC1_ENST00000356142.4_Splice_Site_p.A13T|RAC1_ENST00000488373.1_3'UTR	NM_006908.4	NP_008839.2	P63000	RAC1_HUMAN	ras-related C3 botulinum toxin substrate 1 (rho family, small GTP binding protein Rac1)	13					actin filament polymerization|apoptosis|axon guidance|cell motility|cell-matrix adhesion|induction of apoptosis by extracellular signals|inflammatory response|lamellipodium assembly|localization within membrane|negative regulation of interleukin-23 production|negative regulation of receptor-mediated endocytosis|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of lamellipodium assembly|positive regulation of Rho protein signal transduction|regulation of cell migration|regulation of defense response to virus by virus|regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|ruffle organization|small GTPase mediated signal transduction|T cell costimulation|viral reproduction	cytosol|melanosome|plasma membrane	GTP binding|GTP-dependent protein binding|GTPase activity|thioesterase binding			cervix(1)|endometrium(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	8		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.104)	Pravastatin(DB00175)|Simvastatin(DB00641)	TCTCTTTAGAGCTGTAGGTAA	0.323													72	42					0	0	1	0	0	A	6426844	G	A	6426844	5	1	81	1	0	0	0	0	0	0	1	0	13026	985	34	2	43	2	RAC1	7	6426844	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	348578	6426844	152711819	5833	9449											
DAGLB	221955	broad.mit.edu	37	7	6452454	6452454	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:6452454G>A	ENST00000428902.2	-	12	1433	c.1135C>T	c.(1135-1137)Caa>Taa	p.Q379*	DAGLB_ENST00000425398.2_Silent_p.C390C|DAGLB_ENST00000297056.6_Silent_p.C519C|DAGLB_ENST00000436575.1_Silent_p.C478C			Q8NCG7	DGLB_HUMAN	diacylglycerol lipase, beta	0					lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|urinary_tract(2)	26		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.102)		TGGGTTTATTGCAGTGCGCGA	0.572													3	6					0	0	1	0	0	A	6452454	G	A	6452454	4	1	81	1	0	0	0	0	0	1	0	0	4251	1311	46	2	473	2	DAGLB	7	6452454	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	25610	6452454	152686209	5834	9450											
KDELR2	11014	broad.mit.edu	37	7	6505922	6505922	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:6505922G>A	ENST00000258739.4	-	4	568	c.384C>T	c.(382-384)tcC>tcT	p.S128S	DAGLB_ENST00000436575.1_Intron|KDELR2_ENST00000463747.1_Intron|KDELR2_ENST00000490996.1_Intron	NM_006854.3	NP_006845.1	P33947	ERD22_HUMAN	KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 2	128					intracellular protein transport|protein retention in ER lumen|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi apparatus|integral to membrane	KDEL sequence binding|protein binding|receptor activity	p.S128S(1)		central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(1)	10		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)		GGATAGCCACGGACTCCAGGT	0.542													4	85					0	0	1	0	0	A	6505922	G	A	6505922	2	1	81	1	0	0	0	0	0	0	0	1	8164	1103	39	1		1	KDELR2	7	6505922	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	53468	6505922	152632741	5835	9451											
ZDHHC4	55146	broad.mit.edu	37	7	6621738	6621738	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:6621738C>T	ENST00000396706.2	+	5	669	c.226C>T	c.(226-228)Caa>Taa	p.Q76*	ZDHHC4_ENST00000396709.1_Nonsense_Mutation_p.Q76*|ZDHHC4_ENST00000396707.2_Nonsense_Mutation_p.Q76*|ZDHHC4_ENST00000335965.6_Nonsense_Mutation_p.Q76*|ZDHHC4_ENST00000405731.3_Nonsense_Mutation_p.Q76*|ZDHHC4_ENST00000396713.2_Nonsense_Mutation_p.Q76*|AC079742.4_ENST00000434951.1_RNA			Q9NPG8	ZDHC4_HUMAN	zinc finger, DHHC-type containing 4	76						integral to membrane	acyltransferase activity|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.1)		CCTGGTCTTGCAAGGGATGGT	0.453													53	149					0	0	1	0	0	T	6621738	C	T	6621738	4	4	81	1	0	0	0	0	0	1	0	0	17675	711	25	2	236	2	ZDHHC4	7	6621738	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	115816	6621738	152516925	5836	9452											
ZNF12	7559	broad.mit.edu	37	7	6732108	6732108	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:6732108A>G	ENST00000405858.1	-	5	1006	c.465T>C	c.(463-465)agT>agC	p.S155S	ZNF12_ENST00000404360.1_Silent_p.S81S|ZNF12_ENST00000342651.5_Silent_p.S117S|AC073343.13_ENST00000366167.2_RNA	NM_006956.2|NM_016265.3	NP_008887.2|NP_057349.2	P17014	ZNF12_HUMAN	zinc finger protein 12	155					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(3)	16		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0231)		TTCCATCACTACTAATATATT	0.373													7	121					0	0	1	0	0	G	6732108	A	G	6732108	2	3	81	1	0	0	0	0	0	0	0	1	17776	388	14	3		3	ZNF12	7	6732108	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	110370	6732108	152406555	5837	9453											
ZNF12	7559	broad.mit.edu	37	7	6732277	6732277	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:6732277G>T	ENST00000405858.1	-	5	837	c.296C>A	c.(295-297)cCt>cAt	p.P99H	ZNF12_ENST00000404360.1_Missense_Mutation_p.P63H|ZNF12_ENST00000342651.5_Missense_Mutation_p.P99H|AC073343.13_ENST00000366167.2_RNA	NM_006956.2|NM_016265.3	NP_008887.2|NP_057349.2	P17014	ZNF12_HUMAN	zinc finger protein 12	99					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(3)	16		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0231)		TTGCCTTGAAGGTTTATTTTC	0.363													119	104					6.87118e-46	9.24114e-46	1	1	0	T	6732277	G	T	6732277	3	4	81	1	0	0	0	0	1	0	0	0	17776	1000	35	4	1801	4	ZNF12	7	6732277	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	169	6732277	152406386	5838	9454											
ZNF12	7559	broad.mit.edu	37	7	6736973	6736973	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:6736973G>A	ENST00000405858.1	-	4	776	c.235C>T	c.(235-237)Cca>Tca	p.P79S	ZNF12_ENST00000404360.1_Missense_Mutation_p.P43S|ZNF12_ENST00000342651.5_Missense_Mutation_p.P79S|AC073343.13_ENST00000366167.2_RNA	NM_006956.2|NM_016265.3	NP_008887.2|NP_057349.2	P17014	ZNF12_HUMAN	zinc finger protein 12	79	KRAB.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(3)	16		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0231)		AACACACCTGGATAGCTCTGA	0.433													4	19					0	0	1	0	0	A	6736973	G	A	6736973	3	1	81	1	0	0	0	0	1	0	0	0	17776	1174	41	2	1866	2	ZNF12	7	6736973	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	4696	6736973	152401690	5839	9455											
COL28A1	340267	broad.mit.edu	37	7	7410484	7410484	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:7410484delT	ENST00000399429.3	-	33	3078	c.2938delA	c.(2938-2940)attfs	p.I980fs		NM_001037763.2	NP_001032852.2	Q2UY09	COSA1_HUMAN	collagen, type XXVIII, alpha 1	980	VWFA 2.				cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		TCCTCACAAATTTTTTGAAAC	0.338													7	88	---	---	---	---						-	7410484	T	-	7410484	7	5	81	1	0	1	0	1	0	0	0	0	3709	1493	52	0	451	0	COL28A1	7	7410484	Frame_Shift_Del	DEL	T	TCGA-DU-6392-01A-11D-1705-08	673511	7410484	151728179	5840	9456											
COL28A1	340267	broad.mit.edu	37	7	7412808	7412808	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:7412808C>T	ENST00000399429.3	-	32	2869	c.2729G>A	c.(2728-2730)cGt>cAt	p.R910H		NM_001037763.2	NP_001032852.2	Q2UY09	COSA1_HUMAN	collagen, type XXVIII, alpha 1	910	VWFA 2.				cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		CTCTTTATCACGAGAATCTGT	0.453													11	42					0	0	1	0	0	T	7412808	C	T	7412808	3	4	81	1	0	0	0	0	1	0	0	0	3709	536	19	1	664	1	COL28A1	7	7412808	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2324	7412808	151725855	5841	9457											
COL28A1	340267	broad.mit.edu	37	7	7476095	7476095	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:7476095C>A	ENST00000399429.3	-	23	1932		c.e23-1			NM_001037763.2	NP_001032852.2	Q2UY09	COSA1_HUMAN	collagen, type XXVIII, alpha 1						cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		CTCTATCTCCCTGTACATTTC	0.398													19	65					7.45023e-12	9.27121e-12	1	1	0	A	7476095	C	A	7476095	5	1	81	1	0	0	0	0	0	0	1	0	3709	695	24	4	1638	4	COL28A1	7	7476095	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	63287	7476095	151662568	5842	9458											
MIOS	54468	broad.mit.edu	37	7	7612975	7612975	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:7612975G>T	ENST00000340080.4	+	4	1290	c.869G>T	c.(868-870)aGt>aTt	p.S290I	MIOS_ENST00000405785.1_Missense_Mutation_p.S290I	NM_019005.3	NP_061878.3	Q9NXC5	MIO_HUMAN	missing oocyte, meiosis regulator, homolog (Drosophila)	290										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						ACAAGGGATAGTAATATTATT	0.408													8	139					1.06961e-07	1.25755e-07	1	1	0	T	7612975	G	T	7612975	3	4	81	1	0	0	0	0	1	0	0	0	9637	1029	36	4	871	4	MIOS	7	7612975	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	136880	7612975	151525688	5843	9459											
MIOS	54468	broad.mit.edu	37	7	7625343	7625343	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:7625343G>A	ENST00000340080.4	+	7	2146	c.1725G>A	c.(1723-1725)atG>atA	p.M575I	MIOS_ENST00000405785.1_Missense_Mutation_p.M575I	NM_019005.3	NP_061878.3	Q9NXC5	MIO_HUMAN	missing oocyte, meiosis regulator, homolog (Drosophila)	575										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GGAGAGAAATGTGTAGCACAC	0.408													128	99					0	0	1	0	0	A	7625343	G	A	7625343	3	1	81	1	0	0	0	0	1	0	0	0	9637	1377	48	2	1739	2	MIOS	7	7625343	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	12368	7625343	151513320	5844	9460											
MIOS	54468	broad.mit.edu	37	7	7646672	7646672	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:7646672G>A	ENST00000340080.4	+	13	2998	c.2577G>A	c.(2575-2577)atG>atA	p.M859I	MIOS_ENST00000405785.1_Missense_Mutation_p.M859I	NM_019005.3	NP_061878.3	Q9NXC5	MIO_HUMAN	missing oocyte, meiosis regulator, homolog (Drosophila)	859										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GTAAATGTATGCAGTTGGATA	0.418													50	53					0	0	1	0	0	A	7646672	G	A	7646672	3	1	81	1	0	0	0	0	1	0	0	0	9637	1319	46	2	2615	2	MIOS	7	7646672	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	21329	7646672	151491991	5845	9461											
ICA1	3382	broad.mit.edu	37	7	8167510	8167510	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:8167510C>T	ENST00000402384.3	-	13	1589	c.1323G>A	c.(1321-1323)tcG>tcA	p.S441S	ICA1_ENST00000396675.3_Silent_p.S441S|ICA1_ENST00000422063.2_Silent_p.S470S|ICA1_ENST00000265577.7_Silent_p.S440S|ICA1_ENST00000406470.2_Silent_p.S441S|ICA1_ENST00000401396.1_Silent_p.S429S			Q05084	ICA69_HUMAN	islet cell autoantigen 1, 69kDa	441					neurotransmitter transport	cell junction|cytosol|Golgi membrane|nucleus|secretory granule membrane|synaptic vesicle membrane|transport vesicle membrane				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	23		Ovarian(82;0.0612)		UCEC - Uterine corpus endometrioid carcinoma (126;0.246)		TACCTTGTAGCGAGGCCTGTA	0.438													39	142					0	0	1	0	0	T	8167510	C	T	8167510	2	4	81	1	0	0	0	0	0	0	0	1	7521	755	27	1		1	ICA1	7	8167510	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	520838	8167510	150971153	5846	9462											
ICA1	3382	broad.mit.edu	37	7	8167563	8167563	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:8167563C>A	ENST00000402384.3	-	13	1536	c.1270G>T	c.(1270-1272)Ggt>Tgt	p.G424C	ICA1_ENST00000396675.3_Missense_Mutation_p.G424C|ICA1_ENST00000422063.2_Missense_Mutation_p.G453C|ICA1_ENST00000265577.7_Missense_Mutation_p.G423C|ICA1_ENST00000406470.2_Missense_Mutation_p.G424C|ICA1_ENST00000401396.1_Missense_Mutation_p.G412C			Q05084	ICA69_HUMAN	islet cell autoantigen 1, 69kDa	424					neurotransmitter transport	cell junction|cytosol|Golgi membrane|nucleus|secretory granule membrane|synaptic vesicle membrane|transport vesicle membrane				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	23		Ovarian(82;0.0612)		UCEC - Uterine corpus endometrioid carcinoma (126;0.246)		GGAAGGAAACCTGAGCCTGTC	0.527													59	154					5.73376e-24	7.56265e-24	1	1	0	A	8167563	C	A	8167563	3	1	81	1	0	0	0	0	1	0	0	0	7521	681	24	4	189	4	ICA1	7	8167563	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	53	8167563	150971100	5847	9463											
ICA1	3382	broad.mit.edu	37	7	8178614	8178614	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:8178614C>A	ENST00000402384.3	-	11	1285		c.e11+1		ICA1_ENST00000396675.3_Splice_Site|ICA1_ENST00000422063.2_Splice_Site|ICA1_ENST00000265577.7_Splice_Site|ICA1_ENST00000406470.2_Splice_Site|ICA1_ENST00000401396.1_Splice_Site			Q05084	ICA69_HUMAN	islet cell autoantigen 1, 69kDa						neurotransmitter transport	cell junction|cytosol|Golgi membrane|nucleus|secretory granule membrane|synaptic vesicle membrane|transport vesicle membrane				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	23		Ovarian(82;0.0612)		UCEC - Uterine corpus endometrioid carcinoma (126;0.246)		ATCTAGGTTACCTGAGCATGC	0.333													5	108					0.014758	0.0152304	1	1	0	A	8178614	C	A	8178614	5	1	81	1	0	0	0	0	0	0	1	0	7521	521	18	5	448	5	ICA1	7	8178614	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	11051	8178614	150960049	5848	9464											
ICA1	3382	broad.mit.edu	37	7	8261009	8261009	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:8261009G>A	ENST00000402384.3	-	5	542	c.276C>T	c.(274-276)aaC>aaT	p.N92N	ICA1_ENST00000396675.3_Silent_p.N92N|ICA1_ENST00000422063.2_Silent_p.N92N|ICA1_ENST00000265577.7_Silent_p.N91N|ICA1_ENST00000406470.2_Silent_p.N92N|ICA1_ENST00000407906.1_Silent_p.N92N|ICA1_ENST00000401396.1_Silent_p.N80N			Q05084	ICA69_HUMAN	islet cell autoantigen 1, 69kDa	92	AH.				neurotransmitter transport	cell junction|cytosol|Golgi membrane|nucleus|secretory granule membrane|synaptic vesicle membrane|transport vesicle membrane				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	23		Ovarian(82;0.0612)		UCEC - Uterine corpus endometrioid carcinoma (126;0.246)		TTCCCAGTTCGTTTTCTTCTT	0.423													15	78					0	0	1	0	0	A	8261009	G	A	8261009	2	1	81	1	0	0	0	0	0	0	0	1	7521	1136	40	1		1	ICA1	7	8261009	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	82395	8261009	150877654	5849	9465											
PHF14	9678	broad.mit.edu	37	7	11075411	11075411	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:11075411C>T	ENST00000403050.3	+	8	2052	c.1600C>T	c.(1600-1602)Cag>Tag	p.Q534*	PHF14_ENST00000445996.2_Nonsense_Mutation_p.Q249*	NM_014660.3	NP_055475.2	O94880	PHF14_HUMAN	PHD finger protein 14	534							zinc ion binding			NS(2)|breast(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	35				UCEC - Uterine corpus endometrioid carcinoma (126;0.205)		ACCAGAAGCACAGGTATGGGA	0.393													66	181					0	0	1	0	0	T	11075411	C	T	11075411	4	4	81	1	0	0	0	0	0	1	0	0	11873	479	17	2	1630	2	PHF14	7	11075411	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2814402	11075411	148063252	5850	9466											
PHF14	9678	broad.mit.edu	37	7	11076172	11076172	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:11076172G>A	ENST00000403050.3	+	9	2182	c.1730G>A	c.(1729-1731)cGt>cAt	p.R577H	PHF14_ENST00000445996.2_Missense_Mutation_p.R292H	NM_014660.3	NP_055475.2	O94880	PHF14_HUMAN	PHD finger protein 14	577							zinc ion binding			NS(2)|breast(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	35				UCEC - Uterine corpus endometrioid carcinoma (126;0.205)		TCAGCTATTCGTAAACTTATG	0.468													25	55					0	0	1	0	0	A	11076172	G	A	11076172	3	1	81	1	0	0	0	0	1	0	0	0	11873	1145	40	1	1764	1	PHF14	7	11076172	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	761	11076172	148062491	5851	9467											
PHF14	9678	broad.mit.edu	37	7	11091395	11091395	+	Silent	SNP	G	G	A	rs150763937	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:11091395G>A	ENST00000403050.3	+	14	2921	c.2469G>A	c.(2467-2469)ccG>ccA	p.P823P	PHF14_ENST00000445996.2_Silent_p.P538P	NM_014660.3	NP_055475.2	O94880	PHF14_HUMAN	PHD finger protein 14	823							zinc ion binding			NS(2)|breast(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	35				UCEC - Uterine corpus endometrioid carcinoma (126;0.205)		AGAAGATTCCGATAAGAAACA	0.393													16	30					0	0	1	0	0	A	11091395	G	A	11091395	2	1	81	1	0	0	0	0	0	0	0	1	11873	1045	37	1		1	PHF14	7	11091395	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	15223	11091395	148047268	5852	9468											
THSD7A	221981	broad.mit.edu	37	7	11676125	11676125	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:11676125C>T	ENST00000423059.4	-	2	905	c.654G>A	c.(652-654)acG>acA	p.T218T		NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A		TSP type-1 2.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		CCACATGACGCGTCCGGTGCT	0.612										HNSCC(18;0.044)			9	23					0	0	1	0	0	T	11676125	C	T	11676125	2	4	81	1	0	0	0	0	0	0	0	1	15939	755	27	1		1	THSD7A	7	11676125	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	584730	11676125	147462538	5853	9469											
TMEM106B	54664	broad.mit.edu	37	7	12271476	12271476	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:12271476A>G	ENST00000396667.3	+	9	1022	c.700A>G	c.(700-702)Aca>Gca	p.T234A	TMEM106B_ENST00000396668.3_Missense_Mutation_p.T234A	NM_018374.3	NP_060844.2	Q9NUM4	T106B_HUMAN	transmembrane protein 106B							integral to membrane				NS(1)|endometrium(8)|large_intestine(2)|lung(7)	18				UCEC - Uterine corpus endometrioid carcinoma (126;0.185)		TACTGTGACAACAACATACTT	0.343													12	57					0	0	1	0	0	G	12271476	A	G	12271476	3	3	81	1	0	0	0	0	1	0	0	0	16081	43	2	3	726	3	TMEM106B	7	12271476	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	595351	12271476	146867187	5854	9470											
SCIN	85477	broad.mit.edu	37	7	12668726	12668727	+	Splice_Site	INS	-	-	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:12668726_12668727insT	ENST00000297029.5	+	9	1299_1300	c.1198_1199insT	c.(1198-1200)att>aTtt	p.I400fs	SCIN_ENST00000473722.1_3'UTR|SCIN_ENST00000519209.1_Splice_Site_p.I153fs|SCIN_ENST00000445618.2_Splice_Site_p.I153fs	NM_001112706.2	NP_001106177.1	Q9Y6U3	ADSV_HUMAN	scinderin	400	Ca(2+)-dependent actin binding.				actin filament capping|actin filament severing|actin nucleation|calcium ion-dependent exocytosis|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of megakaryocyte differentiation|positive regulation of secretion|regulation of chondrocyte differentiation	cell cortex|cytoskeleton	1-phosphatidylinositol binding|actin filament binding|calcium ion binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	17				UCEC - Uterine corpus endometrioid carcinoma (126;0.195)		TTCCTTCCAGATTTGGCGTGTA	0.322													12	55	---	---	---	---						T	12668727	-	T	12668726	8	5	81	1	0	1	1	0	0	0	1	0	13959	347	12	0	1232	0	SCIN	7	12668726	Splice_Site	INS	-	TCGA-DU-6392-01A-11D-1705-08	397250	12668726	146469937	5855	9471											
SCIN	85477	broad.mit.edu	37	7	12680116	12680116	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:12680116C>T	ENST00000297029.5	+	11	1656	c.1555C>T	c.(1555-1557)Ctg>Ttg	p.L519L	SCIN_ENST00000519209.1_Silent_p.L272L|SCIN_ENST00000445618.2_Silent_p.L272L	NM_001112706.2	NP_001106177.1	Q9Y6U3	ADSV_HUMAN	scinderin	519	Ca(2+)-dependent actin binding.				actin filament capping|actin filament severing|actin nucleation|calcium ion-dependent exocytosis|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of megakaryocyte differentiation|positive regulation of secretion|regulation of chondrocyte differentiation	cell cortex|cytoskeleton	1-phosphatidylinositol binding|actin filament binding|calcium ion binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	17				UCEC - Uterine corpus endometrioid carcinoma (126;0.195)		CCGGAGAAACCTGGCATCTAT	0.448													15	7					0	0	1	0	0	T	12680116	C	T	12680116	2	4	81	1	0	0	0	0	0	0	0	1	13959	680	24	2		2	SCIN	7	12680116	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	11390	12680116	146458547	5856	9472											
ARL4A	10124	broad.mit.edu	37	7	12727892	12727892	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:12727892C>A	ENST00000396663.1	+	2	495	c.13C>A	c.(13-15)Ctg>Atg	p.L5M	ARL4A_ENST00000396662.1_Missense_Mutation_p.L5M|ARL4A_ENST00000396664.2_Missense_Mutation_p.L5M|ARL4A_ENST00000356797.3_Missense_Mutation_p.L5M|ARL4A_ENST00000404894.1_Missense_Mutation_p.L5M	NM_001037164.2|NM_001195396.1|NM_005738.4|NM_212460.3	NP_001032241.1|NP_001182325.1|NP_005729.1|NP_997625.1	P40617	ARL4A_HUMAN	ADP-ribosylation factor-like 4A	5					small GTPase mediated signal transduction	cytoplasm|nucleolus|plasma membrane	GTP binding|protein binding			NS(2)|lung(3)|ovary(1)	6				UCEC - Uterine corpus endometrioid carcinoma (126;0.176)		GGGGAATGGGCTGTCAGACCA	0.418													24	242					7.38237e-10	8.97233e-10	1	1	0	A	12727892	C	A	12727892	3	1	81	1	0	0	0	0	1	0	0	0	935	796	28	4	15	4	ARL4A	7	12727892	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	47776	12727892	146410771	5857	9473											
ARL4A	10124	broad.mit.edu	37	7	12728276	12728276	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:12728276G>A	ENST00000396663.1	+	2	879	c.397G>A	c.(397-399)Gct>Act	p.A133T	ARL4A_ENST00000396662.1_Missense_Mutation_p.A133T|ARL4A_ENST00000396664.2_Missense_Mutation_p.A133T|ARL4A_ENST00000356797.3_Missense_Mutation_p.A133T|ARL4A_ENST00000404894.1_Missense_Mutation_p.A133T	NM_001037164.2|NM_001195396.1|NM_005738.4|NM_212460.3	NP_001032241.1|NP_001182325.1|NP_005729.1|NP_997625.1	P40617	ARL4A_HUMAN	ADP-ribosylation factor-like 4A	133					small GTPase mediated signal transduction	cytoplasm|nucleolus|plasma membrane	GTP binding|protein binding			NS(2)|lung(3)|ovary(1)	6				UCEC - Uterine corpus endometrioid carcinoma (126;0.176)		ACTTATAGTTGCTAACAAACA	0.398													5	101					0	0	1	0	0	A	12728276	G	A	12728276	3	1	81	1	0	0	0	0	1	0	0	0	935	1319	46	2	399	2	ARL4A	7	12728276	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	384	12728276	146410387	5858	9474											
ETV1	2115	broad.mit.edu	37	7	13978856	13978856	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:13978856A>G	ENST00000343495.5	-	6	935	c.197T>C	c.(196-198)cTg>cCg	p.L66P	ETV1_ENST00000405192.2_Missense_Mutation_p.L84P|ETV1_ENST00000405218.2_Missense_Mutation_p.L84P|ETV1_ENST00000242066.5_Missense_Mutation_p.L66P|ETV1_ENST00000420159.2_Missense_Mutation_p.L26P|ETV1_ENST00000476720.2_5'UTR|ETV1_ENST00000403685.1_Missense_Mutation_p.L66P|ETV1_ENST00000399357.3_Missense_Mutation_p.L44P|ETV1_ENST00000403527.1_Missense_Mutation_p.L44P|ETV1_ENST00000430479.1_Missense_Mutation_p.L84P|ETV1_ENST00000405358.4_Missense_Mutation_p.L98P			P50549	ETV1_HUMAN	ets variant 1	84					transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		TMPRSS2/ETV1(34)|ACSL3_ENST00000357430/ETV1(2)|EWSR1/ETV1(7)|KLK2/ETV1(3)|SLC45A3/ETV1(3)|HNRNPA2B1/ETV1(8)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31						TTTCAGTGGCAGGCCATGAAA	0.373			T	"EWSR1, TMPRSS2, SLC45A3, C15orf21, HNRNPA2B1. ACSL3"	"Ewing sarcoma, prostate"								5	89					0	0	1	0	0	G	13978856	A	G	13978856	3	3	81	1	0	0	0	0	1	0	0	0	5305	188	7	3	1214	3	ETV1	7	13978856	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	1250580	13978856	145159807	5859	9475											
ETV1	2115	broad.mit.edu	37	7	14027793	14027793	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:14027793C>T	ENST00000343495.5	-	4	789	c.51G>A	c.(49-51)caG>caA	p.Q17Q	ETV1_ENST00000405192.2_Silent_p.Q17Q|ETV1_ENST00000405218.2_Silent_p.Q17Q|ETV1_ENST00000242066.5_Silent_p.Q17Q|ETV1_ENST00000403685.1_Silent_p.Q17Q|ETV1_ENST00000430479.1_Silent_p.Q17Q|ETV1_ENST00000405358.4_Silent_p.Q31Q			P50549	ETV1_HUMAN	ets variant 1	17					transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		TMPRSS2/ETV1(34)|ACSL3_ENST00000357430/ETV1(2)|EWSR1/ETV1(7)|KLK2/ETV1(3)|SLC45A3/ETV1(3)|HNRNPA2B1/ETV1(8)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31						TTCTCCCACGCTGACTCTACA	0.418			T	"EWSR1, TMPRSS2, SLC45A3, C15orf21, HNRNPA2B1. ACSL3"	"Ewing sarcoma, prostate"								32	43					0	0	1	0	0	T	14027793	C	T	14027793	2	4	81	1	0	0	0	0	0	0	0	1	5305	796	28	2		2	ETV1	7	14027793	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	48937	14027793	145110870	5860	9476											
DGKB	1607	broad.mit.edu	37	7	14722263	14722263	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:14722263C>T	ENST00000403951.2	-	12	1369	c.950G>A	c.(949-951)tGc>tAc	p.C317Y	DGKB_ENST00000407950.1_Missense_Mutation_p.C310Y|DGKB_ENST00000399322.3_Missense_Mutation_p.C317Y|DGKB_ENST00000258767.5_Missense_Mutation_p.C317Y|DGKB_ENST00000403963.1_5'UTR|DGKB_ENST00000402815.1_Missense_Mutation_p.C317Y|DGKB_ENST00000406247.3_Missense_Mutation_p.C317Y|DGKB_ENST00000444700.2_Missense_Mutation_p.C310Y			Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta 90kDa	317					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72					Phosphatidylserine(DB00144)	CTTGGTTGGGCAGTTACCTTC	0.433													41	94					0	0	1	0	0	T	14722263	C	T	14722263	3	4	81	1	0	0	0	0	1	0	0	0	4494	710	25	2	1539	2	DGKB	7	14722263	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	694470	14722263	144416400	5861	9477											
DGKB	1607	broad.mit.edu	37	7	14797357	14797357	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:14797357C>T	ENST00000403951.2	-	3	490		c.e3-1		DGKB_ENST00000407950.1_Splice_Site|DGKB_ENST00000399322.3_Splice_Site|DGKB_ENST00000258767.5_Splice_Site|DGKB_ENST00000403963.1_Splice_Site|DGKB_ENST00000402815.1_Splice_Site|DGKB_ENST00000406247.3_Splice_Site|DGKB_ENST00000444700.2_Splice_Site			Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta 90kDa						activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72					Phosphatidylserine(DB00144)	TTTGTAGAATCTATAAAAAAC	0.323													14	44					0	0	1	0	0	T	14797357	C	T	14797357	5	4	81	1	0	0	0	0	0	0	1	0	4494	927	32	2	2455	2	DGKB	7	14797357	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	75094	14797357	144341306	5862	9478											
ISPD	729920	broad.mit.edu	37	7	16131379	16131379	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:16131379T>A	ENST00000407010.2	-	10	1296	c.1297A>T	c.(1297-1299)Att>Ttt	p.I433F	ISPD_ENST00000399310.3_Missense_Mutation_p.I383F	NM_001101426.3	NP_001094896.1	A4D126	ISPD_HUMAN	isoprenoid synthase domain containing	433					isoprenoid biosynthetic process		nucleotidyltransferase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)	9						AATGAAGCAATAATGATAGCA	0.328										Multiple Myeloma(15;0.18)			5	0					0	0	1	0	0	A	16131379	T	A	16131379	3	1	81	1	0	0	0	0	1	0	0	0	7908	1406	49	4	62	4	ISPD	7	16131379	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	1334022	16131379	143007284	5863	9479											
ANKMY2	57037	broad.mit.edu	37	7	16642099	16642099	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:16642099G>T	ENST00000306999.2	-	9	1290	c.1047C>A	c.(1045-1047)caC>caA	p.H349Q		NM_020319.2	NP_064715.1	Q8IV38	ANKY2_HUMAN	ankyrin repeat and MYND domain containing 2	349						cilium	zinc ion binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	23	Lung NSC(10;0.103)|all_lung(11;0.204)			UCEC - Uterine corpus endometrioid carcinoma (126;0.195)		GAGTAAACCAGTGTGTTTTCT	0.368													9	166					3.09899e-07	3.60815e-07	1	1	0	T	16642099	G	T	16642099	3	4	81	1	0	0	0	0	1	0	0	0	631	1020	36	4	286	4	ANKMY2	7	16642099	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	510720	16642099	142496564	5864	9480											
ANKMY2	57037	broad.mit.edu	37	7	16642112	16642112	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:16642112C>T	ENST00000306999.2	-	9	1277	c.1034G>A	c.(1033-1035)tGc>tAc	p.C345Y		NM_020319.2	NP_064715.1	Q8IV38	ANKY2_HUMAN	ankyrin repeat and MYND domain containing 2	345						cilium	zinc ion binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	23	Lung NSC(10;0.103)|all_lung(11;0.204)			UCEC - Uterine corpus endometrioid carcinoma (126;0.195)		TGTTTTCTGGCAGGTTTGATC	0.363													75	83					0	0	1	0	0	T	16642112	C	T	16642112	3	4	81	1	0	0	0	0	1	0	0	0	631	710	25	2	299	2	ANKMY2	7	16642112	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	13	16642112	142496551	5865	9481											
ANKMY2	57037	broad.mit.edu	37	7	16650315	16650315	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:16650315T>C	ENST00000306999.2	-	6	848	c.605A>G	c.(604-606)gAt>gGt	p.D202G		NM_020319.2	NP_064715.1	Q8IV38	ANKY2_HUMAN	ankyrin repeat and MYND domain containing 2	202						cilium	zinc ion binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	23	Lung NSC(10;0.103)|all_lung(11;0.204)			UCEC - Uterine corpus endometrioid carcinoma (126;0.195)		ACAAATCAAATCCATCACTCT	0.383													10	118					0	0	1	0	0	C	16650315	T	C	16650315	3	2	81	1	0	0	0	0	1	0	0	0	631	1435	50	3	740	3	ANKMY2	7	16650315	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	8203	16650315	142488348	5866	9482											
BZW2	28969	broad.mit.edu	37	7	16737688	16737688	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:16737688C>A	ENST00000433922.2	+	10	1163	c.985C>A	c.(985-987)Ctg>Atg	p.L329M	BZW2_ENST00000258761.3_Missense_Mutation_p.L329M|BZW2_ENST00000405202.1_Missense_Mutation_p.L253M|BZW2_ENST00000407633.1_Missense_Mutation_p.L135M|AC073333.8_ENST00000418907.1_RNA|BZW2_ENST00000452975.2_3'UTR	NM_001159767.1	NP_001153239.1	Q9Y6E2	BZW2_HUMAN	basic leucine zipper and W2 domains 2	329	W2.				cell differentiation|nervous system development|RNA metabolic process		protein binding			cervix(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	15	Lung NSC(10;0.0367)|all_lung(11;0.0837)			UCEC - Uterine corpus endometrioid carcinoma (126;0.199)		TGCTCCCCTGCTGGCCGTGTT	0.507													6	85					8.12818e-05	8.94031e-05	1	1	0	A	16737688	C	A	16737688	3	1	81	1	0	0	0	0	1	0	0	0	1582	796	28	4	1019	4	BZW2	7	16737688	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	87373	16737688	142400975	5867	9483											
AHR	196	broad.mit.edu	37	7	17379003	17379003	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:17379003G>T	ENST00000242057.4	+	10	2197	c.1554G>T	c.(1552-1554)caG>caT	p.Q518H	AHR_ENST00000492120.1_3'UTR	NM_001621.4	NP_001612.1	P35869	AHR_HUMAN	aryl hydrocarbon receptor	518					apoptosis|blood vessel development|cell cycle|regulation of B cell proliferation|response to stress|transcription from RNA polymerase II promoter|xenobiotic metabolic process	cytosolic aryl hydrocarbon receptor complex|transcription factor complex	Hsp90 protein binding|ligand-dependent nuclear receptor activity|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|urinary_tract(3)	33	Lung NSC(10;0.0392)|all_lung(11;0.0754)					ACCAGCCTCAGGATGTGAACT	0.393													28	109					4.22769e-11	5.22336e-11	1	1	0	T	17379003	G	T	17379003	3	4	81	1	0	0	0	0	1	0	0	0	413	991	35	4	1592	4	AHR	7	17379003	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	641315	17379003	141759660	5868	9484											
SNX13	23161	broad.mit.edu	37	7	17836527	17836527	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:17836527G>T	ENST00000409389.1	-	25	2754	c.2582C>A	c.(2581-2583)gCt>gAt	p.A861D	SNX13_ENST00000496855.1_5'UTR|SNX13_ENST00000428135.3_Missense_Mutation_p.A850D			Q9Y5W8	SNX13_HUMAN	sorting nexin 13	861					cell communication|intracellular protein transport|negative regulation of signal transduction|positive regulation of GTPase activity	early endosome membrane	phosphatidylinositol binding|signal transducer activity			breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(13)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(10;0.0261)|all_lung(11;0.0521)					GCATGGAACAGCCTCTGCTAA	0.323													9	126					3.86212e-05	4.27865e-05	1	1	0	T	17836527	G	T	17836527	3	4	81	1	0	0	0	0	1	0	0	0	14938	971	34	4	332	4	SNX13	7	17836527	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	457524	17836527	141302136	5869	9485											
HDAC9	9734	broad.mit.edu	37	7	18625144	18625144	+	Splice_Site	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:18625144A>C	ENST00000406451.4	+	3	413	c.263A>C	c.(262-264)aAg>aCg	p.K88T	HDAC9_ENST00000401921.1_Splice_Site_p.K88T|HDAC9_ENST00000476135.1_3'UTR|HDAC9_ENST00000406072.1_Splice_Site_p.K116T|HDAC9_ENST00000456174.2_Splice_Site_p.K57T|HDAC9_ENST00000524023.1_Splice_Site_p.K57T|HDAC9_ENST00000417496.2_Splice_Site_p.K130T|HDAC9_ENST00000405010.3_Splice_Site_p.K88T|HDAC9_ENST00000428307.2_Splice_Site_p.K88T|HDAC9_ENST00000441542.2_Splice_Site_p.K88T|HDAC9_ENST00000432645.2_Splice_Site_p.K88T	NM_178423.1	NP_848510.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9						B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	GAGCATATCAAGGTAGCAAAT	0.502													4	27					0	0	1	0	0	C	18625144	A	C	18625144	5	2	81	1	0	0	0	0	0	0	1	0	7055	86	3	5	269	5	HDAC9	7	18625144	Splice_Site	SNP	A	TCGA-DU-6392-01A-11D-1705-08	788617	18625144	140513519	5870	9486											
TWISTNB	221830	broad.mit.edu	37	7	19737998	19737998	+	Missense_Mutation	SNP	C	C	T	rs61734275	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:19737998C>T	ENST00000222567.5	-	4	1028	c.958G>A	c.(958-960)Gaa>Aaa	p.E320K		NM_001002926.1	NP_001002926.1	Q3B726	RPA43_HUMAN	TWIST neighbor	320	Lys-rich.					microtubule cytoskeleton|nucleolus	DNA-directed RNA polymerase activity	p.E320K(1)		kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	20						GGGGTAAATTCGGCCTCTTCA	0.368													98	73					0	0	1	0	0	T	19737998	C	T	19737998	3	4	81	1	0	0	0	0	1	0	0	0	16846	893	31	1	62	1	TWISTNB	7	19737998	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1112854	19737998	139400665	5871	9487											
MACC1	346389	broad.mit.edu	37	7	20199790	20199790	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:20199790T>G	ENST00000400331.5	-	5	502	c.194A>C	c.(193-195)aAt>aCt	p.N65T	MACC1_ENST00000332878.4_Missense_Mutation_p.N65T|MACC1_ENST00000589011.1_Missense_Mutation_p.N65T	NM_182762.3	NP_877439.3	Q6ZN28	MACC1_HUMAN	metastasis associated in colon cancer 1	65					positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	growth factor activity			endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1)	39						CCAGAATGGATTTGCAACTTT	0.378													61	44					0	0	1	0	0	G	20199790	T	G	20199790	3	3	81	1	0	0	0	0	1	0	0	0	9189	1493	52	4	2376	4	MACC1	7	20199790	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	461792	20199790	138938873	5872	9488											
ITGB8	3696	broad.mit.edu	37	7	20403300	20403300	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:20403300C>A	ENST00000222573.4	+	2	852	c.168C>A	c.(166-168)gcC>gcA	p.A56A	ITGB8_ENST00000537992.1_5'UTR	NM_002214.2	NP_002205.1	P26012	ITB8_HUMAN	integrin, beta 8						cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development	integrin complex	protein binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(4)|stomach(2)|urinary_tract(1)	37						CATCCTGTGCCAGGTGCCTTG	0.393													3	29					0.004672	0.00489345	1	1	0	A	20403300	C	A	20403300	2	1	81	1	0	0	0	0	0	0	0	1	7945	581	21	5		5	ITGB8	7	20403300	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	203510	20403300	138735363	5873	9489											
ABCB5	340273	broad.mit.edu	37	7	20682994	20682994	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:20682994A>C	ENST00000404938.2	+	6	1154	c.502A>C	c.(502-504)Aca>Cca	p.T168P		NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	354	ABC transporter 1.				regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						CACTCGCATGACAGAGTAAGA	0.383													8	57					0	0	1	0	0	C	20682994	A	C	20682994	3	2	81	1	0	0	0	0	1	0	0	0	44	275	10	5	520	5	ABCB5	7	20682994	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	279694	20682994	138455669	5874	9490											
ABCB5	340273	broad.mit.edu	37	7	20689654	20689654	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:20689654G>T	ENST00000404938.2	+	12	1868	c.1216G>T	c.(1216-1218)Ggt>Tgt	p.G406C	ABCB5_ENST00000406935.1_5'UTR|ABCB5_ENST00000258738.6_5'UTR|ABCB5_ENST00000443026.2_5'UTR|ABCB5_ENST00000477094.1_3'UTR	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	590	ABC transmembrane type-1.				regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						GATTCTGAAAGGTCTGAATCT	0.393													9	22					0.000274275	0.000297259	1	1	0	T	20689654	G	T	20689654	3	4	81	1	0	0	0	0	1	0	0	0	44	1000	35	4	1258	4	ABCB5	7	20689654	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	6660	20689654	138449009	5875	9491											
ABCB5	340273	broad.mit.edu	37	7	20778740	20778740	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:20778740G>A	ENST00000404938.2	+	24	3654	c.3002G>A	c.(3001-3003)cGc>cAc	p.R1001H	ABCB5_ENST00000258738.6_Missense_Mutation_p.R556H	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	556					regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						ATAGACAGCCGCAGTCAAGAA	0.468													11	10					0	0	1	0	0	A	20778740	G	A	20778740	3	1	81	1	0	0	0	0	1	0	0	0	44	1087	38	1	3133	1	ABCB5	7	20778740	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	89086	20778740	138359923	5876	9492											
ABCB5	340273	broad.mit.edu	37	7	20784923	20784923	+	Silent	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:20784923T>A	ENST00000404938.2	+	26	3943	c.3291T>A	c.(3289-3291)ccT>ccA	p.P1097P	ABCB5_ENST00000258738.6_Silent_p.P652P	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	652					regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						CAATCGTTCCTCAAGAGCCTG	0.468													5	125					0	0	1	0	0	A	20784923	T	A	20784923	2	1	81	1	0	0	0	0	0	0	0	1	44	1538	54	5		5	ABCB5	7	20784923	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	6183	20784923	138353740	5877	9493											
SP8	221833	broad.mit.edu	37	7	20824833	20824833	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:20824833G>A	ENST00000361443.4	-	3	786	c.549C>T	c.(547-549)caC>caT	p.H183H	SP8_ENST00000418710.2_Silent_p.H201H	NM_198956.2	NP_945194.1	Q8IXZ3	SP8_HUMAN	Sp8 transcription factor	183					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	8						ACTCGTACGGGTGCGCCATGC	0.716													3	10					0	0	1	0	0	A	20824833	G	A	20824833	2	1	81	1	0	0	0	0	0	0	0	1	15024	1252	44	2		2	SP8	7	20824833	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	39910	20824833	138313830	5878	9494											
SP4	6671	broad.mit.edu	37	7	21470442	21470442	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:21470442T>C	ENST00000222584.3	+	3	1877	c.1659T>C	c.(1657-1659)gtT>gtC	p.V553V		NM_003112.3	NP_003103.2	Q02446	SP4_HUMAN	Sp4 transcription factor	553					regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	35						GAGTTCCCGTTACAATCACTA	0.408													5	110					0	0	1	0	0	C	21470442	T	C	21470442	2	2	81	1	0	0	0	0	0	0	0	1	15020	1741	61	3		3	SP4	7	21470442	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	645609	21470442	137668221	5879	9495											
SP4	6671	broad.mit.edu	37	7	21516748	21516748	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:21516748C>A	ENST00000222584.3	+	4	1948	c.1730C>A	c.(1729-1731)cCt>cAt	p.P577H		NM_003112.3	NP_003103.2	Q02446	SP4_HUMAN	Sp4 transcription factor	577					regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	35						ACTATAGCTCCTGTAACTGTA	0.423													5	56					0.014758	0.0152304	1	1	0	A	21516748	C	A	21516748	3	1	81	1	0	0	0	0	1	0	0	0	15020	681	24	4	1744	4	SP4	7	21516748	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	46306	21516748	137621915	5880	9496											
DNAH11	8701	broad.mit.edu	37	7	21599273	21599273	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:21599273G>A	ENST00000328843.6	+	4	776	c.745G>A	c.(745-747)Gaa>Aaa	p.E249K	DNAH11_ENST00000409508.3_Missense_Mutation_p.E249K			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	249	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TGTGGTTATTGAATGGTCACA	0.338									Kartagener syndrome				3	24					0	0	1	0	0	A	21599273	G	A	21599273	3	1	81	1	0	0	0	0	1	0	0	0	4627	1291	45	2	759	2	DNAH11	7	21599273	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	82525	21599273	137539390	5881	9497											
DNAH11	8701	broad.mit.edu	37	7	21631042	21631042	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:21631042G>T	ENST00000328843.6	+	14	2545	c.2514G>T	c.(2512-2514)caG>caT	p.Q838H	DNAH11_ENST00000409508.3_Missense_Mutation_p.Q838H			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	838	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						AGGTGATCCAGCAGACCATGA	0.582									Kartagener syndrome				38	31					8.73648e-17	1.12305e-16	1	1	0	T	21631042	G	T	21631042	3	4	81	1	0	0	0	0	1	0	0	0	4627	962	34	4	2568	4	DNAH11	7	21631042	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	31769	21631042	137507621	5882	9498											
DNAH11	8701	broad.mit.edu	37	7	21654888	21654888	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:21654888C>T	ENST00000328843.6	+	21	4040	c.4009C>T	c.(4009-4011)Cga>Tga	p.R1337*	DNAH11_ENST00000409508.3_Nonsense_Mutation_p.R1337*			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1337	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TATTTATGTTCGAGTAAGATG	0.333									Kartagener syndrome				32	40					0	0	1	0	0	T	21654888	C	T	21654888	4	4	81	1	0	0	0	0	0	1	0	0	4627	876	31	1	4091	1	DNAH11	7	21654888	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	23846	21654888	137483775	5883	9499											
DNAH11	8701	broad.mit.edu	37	7	21730484	21730484	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:21730484T>C	ENST00000328843.6	+	36	6078	c.6047T>C	c.(6046-6048)cTc>cCc	p.L2016P	DNAH11_ENST00000409508.3_Missense_Mutation_p.L2009P			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	2016	AAA 1 (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						CCGGAAAATCTCAAAGCTCTT	0.418									Kartagener syndrome				46	136					0	0	1	0	0	C	21730484	T	C	21730484	3	2	81	1	0	0	0	0	1	0	0	0	4627	1551	54	3	6186	3	DNAH11	7	21730484	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	75596	21730484	137408179	5884	9500											
DNAH11	8701	broad.mit.edu	37	7	21789968	21789968	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:21789968C>T	ENST00000328843.6	+	55	8978	c.8947C>T	c.(8947-8949)Cga>Tga	p.R2983*	DNAH11_ENST00000409508.3_Nonsense_Mutation_p.R2976*			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	2983	AAA 4 (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						GGCCAGGGTGCGACTACAGCT	0.373									Kartagener syndrome				3	11					0	0	1	0	0	T	21789968	C	T	21789968	4	4	81	1	0	0	0	0	0	1	0	0	4627	760	27	1	9162	1	DNAH11	7	21789968	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	59484	21789968	137348695	5885	9501											
CDCA7L	55536	broad.mit.edu	37	7	21946038	21946038	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:21946038G>A	ENST00000406877.3	-	6	1069	c.790C>T	c.(790-792)Cag>Tag	p.Q264*	CDCA7L_ENST00000373934.4_Nonsense_Mutation_p.Q218*|CDCA7L_ENST00000356195.5_Nonsense_Mutation_p.Q230*|CDCA7L_ENST00000465490.1_5'UTR	NM_018719.4	NP_061189.2	Q96GN5	CDA7L_HUMAN	cell division cycle associated 7-like	264					positive regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	29						CGCGTGATCTGTCCCTCCGAG	0.542													44	145					0	0	1	0	0	A	21946038	G	A	21946038	4	1	81	1	0	0	0	0	0	1	0	0	3113	1386	48	2	594	2	CDCA7L	7	21946038	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	156070	21946038	137192625	5886	9502											
KLHL7	55975	broad.mit.edu	37	7	23205476	23205476	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:23205476C>T	ENST00000339077.5	+	8	1339	c.1096C>T	c.(1096-1098)Ctg>Ttg	p.L366L	KLHL7_ENST00000539124.1_Silent_p.L290L|KLHL7_ENST00000545443.1_Silent_p.L344L|KLHL7_ENST00000409689.1_Silent_p.L318L|KLHL7_ENST00000322231.7_Silent_p.L344L|KLHL7_ENST00000542558.1_Silent_p.L141L	NM_001031710.2	NP_001026880.2	Q8IXQ5	KLHL7_HUMAN	kelch-like family member 7							Golgi apparatus|nucleolus|plasma membrane				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						GTATTCGAAACTGGGTCCTCC	0.438													16	59					0	0	1	0	0	T	23205476	C	T	23205476	2	4	81	1	0	0	0	0	0	0	0	1	8437	564	20	2		2	KLHL7	7	23205476	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1259438	23205476	135933187	5887	9503											
NUPL2	11097	broad.mit.edu	37	7	23240207	23240207	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:23240207C>A	ENST00000258742.5	+	7	1374	c.1115C>A	c.(1114-1116)tCt>tAt	p.S372Y		NM_007342.2	NP_031368.1	O15504	NUPL2_HUMAN	nucleoporin like 2	372	Interaction with GLE1.|Ser-rich.				carbohydrate metabolic process|glucose transport|mRNA transport|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nuclear pore	nuclear export signal receptor activity|nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						ATATCCACTTCTCTGTCAGCC	0.428													12	242					9.31168e-06	1.05369e-05	1	1	0	A	23240207	C	A	23240207	3	1	81	1	0	0	0	0	1	0	0	0	10823	913	32	4	1141	4	NUPL2	7	23240207	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	34731	23240207	135898456	5888	9504											
GPNMB	10457	broad.mit.edu	37	7	23299713	23299713	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:23299713C>T	ENST00000258733.4	+	5	951	c.656C>T	c.(655-657)gCa>gTa	p.A219V	GPNMB_ENST00000453162.2_Missense_Mutation_p.A161V|GPNMB_ENST00000539136.1_Missense_Mutation_p.A120V|GPNMB_ENST00000381990.2_Missense_Mutation_p.A219V			Q14956	GPNMB_HUMAN	glycoprotein (transmembrane) nmb	219					negative regulation of cell proliferation	melanosome				breast(5)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(3)|stomach(2)	41			GBM - Glioblastoma multiforme(13;0.154)			CATGGACGGGCATATGTTCCC	0.468													37	49					0	0	1	0	0	T	23299713	C	T	23299713	3	4	81	1	0	0	0	0	1	0	0	0	6660	710	25	2	674	2	GPNMB	7	23299713	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	59506	23299713	135838950	5889	9505											
GPNMB	10457	broad.mit.edu	37	7	23306199	23306199	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:23306199G>T	ENST00000258733.4	+	7	1377	c.1082G>T	c.(1081-1083)aGa>aTa	p.R361I	GPNMB_ENST00000453162.2_Missense_Mutation_p.R315I|GPNMB_ENST00000539136.1_Missense_Mutation_p.R262I|GPNMB_ENST00000381990.2_Missense_Mutation_p.R373I			Q14956	GPNMB_HUMAN	glycoprotein (transmembrane) nmb	373					negative regulation of cell proliferation	melanosome				breast(5)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(3)|stomach(2)	41			GBM - Glioblastoma multiforme(13;0.154)			CAGATTAACAGATATGGCCAC	0.478													5	51					1.23904e-05	1.39156e-05	1	1	0	T	23306199	G	T	23306199	3	4	81	1	0	0	0	0	1	0	0	0	6660	942	33	4	1144	4	GPNMB	7	23306199	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	6486	23306199	135832464	5890	9506											
GPNMB	10457	broad.mit.edu	37	7	23309606	23309606	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:23309606C>T	ENST00000258733.4	+	9	1536	c.1241C>T	c.(1240-1242)aCc>aTc	p.T414I	GPNMB_ENST00000453162.2_Missense_Mutation_p.T368I|GPNMB_ENST00000539136.1_Missense_Mutation_p.T315I|GPNMB_ENST00000381990.2_Missense_Mutation_p.T426I			Q14956	GPNMB_HUMAN	glycoprotein (transmembrane) nmb	426					negative regulation of cell proliferation	melanosome				breast(5)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(3)|stomach(2)	41			GBM - Glioblastoma multiforme(13;0.154)			GAGGTCTGTACCATCATTTCT	0.557													8	135					0	0	1	0	0	T	23309606	C	T	23309606	3	4	81	1	0	0	0	0	1	0	0	0	6660	507	18	2	1311	2	GPNMB	7	23309606	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3407	23309606	135829057	5891	9507											
TRA2A	29896	broad.mit.edu	37	7	23545428	23545428	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:23545428G>A	ENST00000297071.4	-	7	991	c.775C>T	c.(775-777)Cga>Tga	p.R259*	TRA2A_ENST00000538367.1_Nonsense_Mutation_p.R158*|TRA2A_ENST00000392502.4_Splice_Site_p.R157*	NM_013293.3	NP_037425.1	Q13595	TRA2A_HUMAN	transformer 2 alpha homolog (Drosophila)	259	Arg/Ser-rich (RS2 domain).				nuclear mRNA splicing, via spliceosome	nucleus	nucleotide binding|RNA binding			endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	10						GAAGGTGATCGTCTTCTGTAA	0.333													61	46					0	0	1	0	0	A	23545428	G	A	23545428	4	1	81	1	0	0	0	0	0	1	0	0	16494	1153	40	1	81	1	TRA2A	7	23545428	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	235822	23545428	135593235	5892	9508											
TRA2A	29896	broad.mit.edu	37	7	23545848	23545848	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:23545848C>A	ENST00000297071.4	-	6	895	c.679G>T	c.(679-681)Ggt>Tgt	p.G227C	TRA2A_ENST00000538367.1_Missense_Mutation_p.G126C|TRA2A_ENST00000392502.4_Missense_Mutation_p.G126C	NM_013293.3	NP_037425.1	Q13595	TRA2A_HUMAN	transformer 2 alpha homolog (Drosophila)	227	Arg/Ser-rich (RS2 domain).				nuclear mRNA splicing, via spliceosome	nucleus	nucleotide binding|RNA binding			endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	10						ccacctccacctccaccgccg	0.448													13	33					9.31168e-06	1.05369e-05	1	1	0	A	23545848	C	A	23545848	3	1	81	1	0	0	0	0	1	0	0	0	16494	681	24	4	181	4	TRA2A	7	23545848	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	420	23545848	135592815	5893	9509											
TRA2A	29896	broad.mit.edu	37	7	23547109	23547109	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:23547109G>A	ENST00000297071.4	-	5	787	c.571C>T	c.(571-573)Cgg>Tgg	p.R191W	TRA2A_ENST00000474586.1_5'UTR|TRA2A_ENST00000538367.1_Missense_Mutation_p.R90W|TRA2A_ENST00000392502.4_Missense_Mutation_p.R90W	NM_013293.3	NP_037425.1	Q13595	TRA2A_HUMAN	transformer 2 alpha homolog (Drosophila)	191	RRM.				nuclear mRNA splicing, via spliceosome	nucleus	nucleotide binding|RNA binding			endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	10						TAATCCACCCGAATTCTTCTA	0.423													50	128					0	0	1	0	0	A	23547109	G	A	23547109	3	1	81	1	0	0	0	0	1	0	0	0	16494	1057	37	1	293	1	TRA2A	7	23547109	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1261	23547109	135591554	5894	9510											
STK31	56164	broad.mit.edu	37	7	23768859	23768859	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:23768859G>T	ENST00000354639.3	+	6	869	c.405G>T	c.(403-405)caG>caT	p.Q135H	STK31_ENST00000405627.3_3'UTR|STK31_ENST00000355870.3_Missense_Mutation_p.Q158H|STK31_ENST00000428484.1_Missense_Mutation_p.Q135H|STK31_ENST00000433467.2_Missense_Mutation_p.Q158H	NM_001260504.1|NM_032944.3	NP_001247433.1|NP_116562.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	158	Tudor.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						AAGTTACCCAGTTTGATCAGG	0.318													5	68					5.9392e-07	6.87481e-07	1	1	0	T	23768859	G	T	23768859	3	4	81	1	0	0	0	0	1	0	0	0	15352	1020	36	4	496	4	STK31	7	23768859	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	221750	23768859	135369804	5895	9511											
STK31	56164	broad.mit.edu	37	7	23775374	23775374	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:23775374G>T	ENST00000354639.3	+	7	1096	c.632G>T	c.(631-633)aGg>aTg	p.R211M	STK31_ENST00000405627.3_3'UTR|STK31_ENST00000355870.3_Missense_Mutation_p.R234M|STK31_ENST00000428484.1_Missense_Mutation_p.R211M|STK31_ENST00000433467.2_Missense_Mutation_p.R234M	NM_001260504.1|NM_032944.3	NP_001247433.1|NP_116562.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	234							ATP binding|nucleic acid binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						CTTGTTCTCAGGAACCTCAAA	0.453													6	74					0.00116845	0.00124301	1	1	0	T	23775374	G	T	23775374	3	4	81	1	0	0	0	0	1	0	0	0	15352	1000	35	4	727	4	STK31	7	23775374	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	6515	23775374	135363289	5896	9512											
STK31	56164	broad.mit.edu	37	7	23808768	23808768	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:23808768T>C	ENST00000354639.3	+	12	1966	c.1502T>C	c.(1501-1503)gTa>gCa	p.V501A	STK31_ENST00000405627.3_3'UTR|STK31_ENST00000355870.3_Missense_Mutation_p.V524A|STK31_ENST00000428484.1_Missense_Mutation_p.V501A|STK31_ENST00000433467.2_Missense_Mutation_p.V524A	NM_001260504.1|NM_032944.3	NP_001247433.1|NP_116562.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	524							ATP binding|nucleic acid binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						CACCGTCTTGTAGCATGGTTC	0.378													39	94					0	0	1	0	0	C	23808768	T	C	23808768	3	2	81	1	0	0	0	0	1	0	0	0	15352	1638	57	3	1617	3	STK31	7	23808768	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	33394	23808768	135329895	5897	9513											
STK31	56164	broad.mit.edu	37	7	23809314	23809314	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:23809314T>C	ENST00000354639.3	+	13	2047	c.1583T>C	c.(1582-1584)aTt>aCt	p.I528T	STK31_ENST00000405627.3_3'UTR|STK31_ENST00000355870.3_Missense_Mutation_p.I551T|STK31_ENST00000428484.1_Missense_Mutation_p.I528T|STK31_ENST00000433467.2_Missense_Mutation_p.I551T	NM_001260504.1|NM_032944.3	NP_001247433.1|NP_116562.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	551							ATP binding|nucleic acid binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						ATGGATAATATTGATGAAATC	0.358													13	219					0	0	1	0	0	C	23809314	T	C	23809314	3	2	81	1	0	0	0	0	1	0	0	0	15352	1493	52	3	1702	3	STK31	7	23809314	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	546	23809314	135329349	5898	9514											
STK31	56164	broad.mit.edu	37	7	23810623	23810623	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:23810623G>T	ENST00000354639.3	+	14	2108		c.e14-1		STK31_ENST00000405627.3_Splice_Site|STK31_ENST00000355870.3_Splice_Site|STK31_ENST00000428484.1_Splice_Site|STK31_ENST00000433467.2_Splice_Site	NM_001260504.1|NM_032944.3	NP_001247433.1|NP_116562.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31								ATP binding|nucleic acid binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						ATTTCATTTAGGATCAAGGTG	0.343													15	131					3.52763e-06	4.02143e-06	1	1	0	T	23810623	G	T	23810623	5	4	81	1	0	0	0	0	0	0	1	0	15352	1014	35	4	1767	4	STK31	7	23810623	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1309	23810623	135328040	5899	9515											
STK31	56164	broad.mit.edu	37	7	23830448	23830448	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:23830448G>T	ENST00000354639.3	+	22	3038	c.2574G>T	c.(2572-2574)caG>caT	p.Q858H	STK31_ENST00000405627.3_3'UTR|STK31_ENST00000355870.3_Missense_Mutation_p.Q881H|STK31_ENST00000428484.1_Missense_Mutation_p.Q858H|STK31_ENST00000433467.2_Missense_Mutation_p.Q881H	NM_001260504.1|NM_032944.3	NP_001247433.1|NP_116562.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	881	Protein kinase.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						TGCAGAGTCAGCGAGCCTCGG	0.378													6	74					1.6384e-10	2.00851e-10	1	1	0	T	23830448	G	T	23830448	3	4	81	1	0	0	0	0	1	0	0	0	15352	962	34	4	2729	4	STK31	7	23830448	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	19825	23830448	135308215	5900	9516											
NPY	4852	broad.mit.edu	37	7	24324914	24324914	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:24324914C>T	ENST00000407573.1	+	3	345	c.55C>T	c.(55-57)Ctc>Ttc	p.L19F	NPY_ENST00000242152.2_Missense_Mutation_p.L19F|NPY_ENST00000405982.1_Missense_Mutation_p.L19F			P01303	NPY_HUMAN	neuropeptide Y	19					adult feeding behavior|calcium ion transport|cell proliferation|cellular component movement|central nervous system neuron development|cerebral cortex development|digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|neuron projection development|neuropeptide signaling pathway|positive regulation of appetite|synaptic transmission	cell|extracellular space	calcium channel regulator activity|G-protein coupled receptor activity|neuropeptide hormone activity			breast(1)|kidney(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	9						CCTGTCCCTGCTCGTGTGCCT	0.657													40	44					0	0	1	0	0	T	24324914	C	T	24324914	3	4	81	1	0	0	0	0	1	0	0	0	10655	797	28	2	57	2	NPY	7	24324914	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	494466	24324914	134813749	5901	9517											
MPP6	51678	broad.mit.edu	37	7	24727059	24727059	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:24727059C>T	ENST00000222644.5	+	12	1699	c.1449C>T	c.(1447-1449)gaC>gaT	p.D483D	MPP6_ENST00000396475.2_Silent_p.D483D|MPP6_ENST00000409761.1_Silent_p.D371D			Q9NZW5	MPP6_HUMAN	membrane protein, palmitoylated 6 (MAGUK p55 subfamily member 6)		Guanylate kinase-like.				protein complex assembly		protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|skin(2)	20						TTCAACAGGACTCTGACTTGA	0.318													80	53					0	0	1	0	0	T	24727059	C	T	24727059	2	4	81	1	0	0	0	0	0	0	0	1	9787	564	20	2		2	MPP6	7	24727059	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	402145	24727059	134411604	5902	9518											
DFNA5	1687	broad.mit.edu	37	7	24749948	24749948	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:24749948C>T	ENST00000545231.1	-	8	1415	c.265G>A	c.(265-267)Gtc>Atc	p.V89I	DFNA5_ENST00000419307.1_Missense_Mutation_p.V89I|DFNA5_ENST00000342947.3_Missense_Mutation_p.V253I|DFNA5_ENST00000559637.1_5'UTR|DFNA5_ENST00000409970.1_Missense_Mutation_p.V89I|DFNA5_ENST00000409775.3_Missense_Mutation_p.V253I			O60443	DFNA5_HUMAN	deafness, autosomal dominant 5	253					sensory perception of sound					endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)|stomach(1)	19						TCCAGGTAGACAGAGTCAATT	0.468													65	38					0	0	1	0	0	T	24749948	C	T	24749948	3	4	81	1	0	0	0	0	1	0	0	0	4482	478	17	2	753	2	DFNA5	7	24749948	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	22889	24749948	134388715	5903	9519											
OSBPL3	26031	broad.mit.edu	37	7	24839811	24839811	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:24839811G>A	ENST00000313367.2	-	23	3106	c.2655C>T	c.(2653-2655)gtC>gtT	p.V885V	OSBPL3_ENST00000409069.1_Silent_p.V818V|OSBPL3_ENST00000487020.1_5'UTR|OSBPL3_ENST00000431825.2_Silent_p.V818V|OSBPL3_ENST00000353930.1_Silent_p.V849V|OSBPL3_ENST00000396429.1_Silent_p.V849V|OSBPL3_ENST00000396431.1_Silent_p.V854V|OSBPL3_ENST00000352860.1_Silent_p.V854V	NM_015550.2	NP_056365.1	Q9H4L5	OSBL3_HUMAN	oxysterol binding protein-like 3	885					lipid transport		lipid binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1)	43						TTCACCATAAGACAGGATGGT	0.383													6	39					0	0	1	0	0	A	24839811	G	A	24839811	2	1	81	1	0	0	0	0	0	0	0	1	11326	929	33	2		2	OSBPL3	7	24839811	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	89863	24839811	134298852	5904	9520											
CYCS	54205	broad.mit.edu	37	7	25163588	25163588	+	Missense_Mutation	SNP	C	C	T	rs11548772		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:25163588C>T	ENST00000305786.2	-	2	320	c.151G>A	c.(151-153)Gcc>Acc	p.A51T	CYCS_ENST00000409409.1_Missense_Mutation_p.A51T|CYCS_ENST00000409764.1_Missense_Mutation_p.A51T	NM_018947.5	NP_061820.1	P99999	CYC_HUMAN	cytochrome c, somatic	51					activation of caspase activity by cytochrome c|DNA fragmentation involved in apoptotic nuclear change|induction of apoptosis by intracellular signals|respiratory electron transport chain|transport	cytosol|mitochondrial inner membrane|mitochondrial intermembrane space|mitochondrial matrix|nucleus|protein phosphatase type 2A complex|respiratory chain	electron transporter, transferring electrons from CoQH2-cytochrome c reductase complex and cytochrome c oxidase complex activity|heme binding|protein binding			endometrium(1)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	4					Melatonin(DB01065)|Minocycline(DB01017)	TTATTGGCGGCTGTGTAAGAG	0.458													18	47					0	0	1	0	0	T	25163588	C	T	25163588	3	4	81	1	0	0	0	0	1	0	0	0	4159	797	28	2	174	2	CYCS	7	25163588	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	323777	25163588	133975075	5905	9521											
C7orf31	136895	broad.mit.edu	37	7	25176355	25176355	+	Nonsense_Mutation	SNP	G	G	A	rs146941527	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:25176355G>A	ENST00000409280.1	-	10	1317	c.1009C>T	c.(1009-1011)Cga>Tga	p.R337*	C7orf31_ENST00000283905.3_Nonsense_Mutation_p.R337*			Q8N865	CG031_HUMAN	chromosome 7 open reading frame 31	337										autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1)	14						TGAATTAATCGGGCAATTCGT	0.428													51	158					0	0	1	0	0	A	25176355	G	A	25176355	4	1	81	1	0	0	0	0	0	1	0	0	2403	1124	39	1	767	1	C7orf31	7	25176355	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	12767	25176355	133962308	5906	9522											
NFE2L3	9603	broad.mit.edu	37	7	26224454	26224454	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:26224454A>G	ENST00000056233.3	+	4	1395	c.1136A>G	c.(1135-1137)gAc>gGc	p.D379G		NM_004289.6	NP_004280.5	Q9Y4A8	NF2L3_HUMAN	nuclear factor, erythroid 2-like 3	379					transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(5)|urinary_tract(7)	29						ACAAGCCAAGACCTACTGTAT	0.373													13	161					0	0	1	0	0	G	26224454	A	G	26224454	3	3	81	1	0	0	0	0	1	0	0	0	10416	275	10	3	1150	3	NFE2L3	7	26224454	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	1048099	26224454	132914209	5907	9523											
HOXA1	3198	broad.mit.edu	37	7	27134370	27134370	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:27134370G>A	ENST00000343060.4	-	2	758	c.697C>T	c.(697-699)Cgc>Tgc	p.R233C	HOXA1_ENST00000355633.5_3'UTR	NM_005522.4	NP_005513	P49639	HXA1_HUMAN	homeobox A1	233						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.R233C(2)		endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						AAGTTGGTGCGCACCGCGTTG	0.537													5	96					0	0	1	0	0	A	27134370	G	A	27134370	3	1	81	1	0	0	0	0	1	0	0	0	7329	1087	38	1	314	1	HOXA1	7	27134370	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	909916	27134370	132004293	5908	9524											
HOXA2	3199	broad.mit.edu	37	7	27140382	27140382	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:27140382G>A	ENST00000222718.5	-	2	1404	c.1094C>T	c.(1093-1095)aCa>aTa	p.T365I		NM_006735.3	NP_006726.1	O43364	HXA2_HUMAN	homeobox A2	365						nucleus	sequence-specific DNA binding transcription factor activity			breast(3)|cervix(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(1)	22						TGTGGTGAGTGTGTCTGTAAA	0.433													34	135					0	0	1	0	0	A	27140382	G	A	27140382	3	1	81	1	0	0	0	0	1	0	0	0	7333	1377	48	2	40	2	HOXA2	7	27140382	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	6012	27140382	131998281	5909	9525											
HOXA3	3200	broad.mit.edu	37	7	27149775	27149775	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:27149775G>A	ENST00000396352.4	-	2	684	c.485C>T	c.(484-486)tCt>tTt	p.S162F	HOXA-AS2_ENST00000518088.1_RNA|HOXA3_ENST00000317201.2_Missense_Mutation_p.S162F	NM_030661.4	NP_109377.1	O43365	HXA3_HUMAN	homeobox A3	162					angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(18)|skin(1)	29						GTTTTGTCGAGACTCTTTCAT	0.562													23	73					0	0	1	0	0	A	27149775	G	A	27149775	3	1	81	1	0	0	0	0	1	0	0	0	7334	942	33	2	854	2	HOXA3	7	27149775	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	9393	27149775	131988888	5910	9526											
HOXA7	3204	broad.mit.edu	37	7	27194841	27194841	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:27194841C>T	ENST00000242159.3	-	2	513	c.380G>A	c.(379-381)gGa>gAa	p.G127E	HOXA7_ENST00000523796.2_5'UTR|HOXA-AS3_ENST00000518947.2_RNA	NM_006896.3	NP_008827.2	P31268	HXA7_HUMAN	homeobox A7	127					angiogenesis|negative regulation of cell-matrix adhesion|negative regulation of keratinocyte differentiation|negative regulation of leukocyte migration|negative regulation of monocyte differentiation|negative regulation of transcription from RNA polymerase II promoter		sequence-specific DNA binding|transcription factor binding			endometrium(3)|large_intestine(1)|lung(10)|prostate(1)|urinary_tract(1)	16						CCTGTCAGGTCCTGAGAACAG	0.617													34	35					0	0	1	0	0	T	27194841	C	T	27194841	5	4	81	1	0	0	0	0	0	0	1	0	7338	869	30	2	316	2	HOXA7	7	27194841	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	45066	27194841	131943822	5911	9527											
HOXA9	3205	broad.mit.edu	37	7	27203268	27203268	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:27203268C>A	ENST00000343483.6	-	2	845	c.773G>T	c.(772-774)aGg>aTg	p.R258M	RP1-170O19.20_ENST00000470747.4_Missense_Mutation_p.R98M|HOXA9_ENST00000497089.1_5'UTR|HOXA9_ENST00000396345.1_3'UTR	NM_152739.3	NP_689952.1	P31269	HXA9_HUMAN	homeobox A9	258							protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(1)|lung(5)|prostate(1)	8						CATTTTCATCCTGCGGTTCTG	0.463			T	"NUP98, MSI2"	AML*								19	183					1.01871e-10	1.25121e-10	1	1	0	A	27203268	C	A	27203268	3	1	81	1	0	0	0	0	1	0	0	0	7339	681	24	4	49	4	HOXA9	7	27203268	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	8427	27203268	131935395	5912	9528											
HOXA9	3205	broad.mit.edu	37	7	27203390	27203390	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:27203390C>A	ENST00000343483.6	-	2	723	c.651G>T	c.(649-651)caG>caT	p.Q217H	RP1-170O19.20_ENST00000465941.1_5'UTR|RP1-170O19.20_ENST00000470747.4_Missense_Mutation_p.Q57H|HOXA9_ENST00000497089.1_5'UTR|HOXA9_ENST00000396345.1_3'UTR	NM_152739.3	NP_689952.1	P31269	HXA9_HUMAN	homeobox A9	217							protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(1)|lung(5)|prostate(1)	8						GTTCCAGGGTCTGGTGTTTTG	0.552			T	"NUP98, MSI2"	AML*								5	82					0.184627	0.18622	1	1	0	A	27203390	C	A	27203390	3	1	81	1	0	0	0	0	1	0	0	0	7339	912	32	4	171	4	HOXA9	7	27203390	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	122	27203390	131935273	5913	9529											
HIBADH	11112	broad.mit.edu	37	7	27565877	27565877	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:27565877A>T	ENST00000265395.2	-	8	1173	c.967T>A	c.(967-969)Ttc>Atc	p.F323I		NM_152740.3	NP_689953.1	P31937	3HIDH_HUMAN	3-hydroxyisobutyrate dehydrogenase	323					branched chain family amino acid catabolic process|pentose-phosphate shunt|valine metabolic process	mitochondrial matrix	3-hydroxyisobutyrate dehydrogenase activity|NAD binding|phosphogluconate dehydrogenase (decarboxylating) activity			endometrium(4)|kidney(2)|lung(3)|ovary(2)|prostate(1)	12			GBM - Glioblastoma multiforme(3;0.0368)		NADH(DB00157)	ACGGATGAGAAGTCTTTCTTT	0.517													4	38					0	0	1	0	0	T	27565877	A	T	27565877	3	4	81	1	0	0	0	0	1	0	0	0	7140	72	3	5	47	5	HIBADH	7	27565877	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	362487	27565877	131572786	5914	9530											
TAX1BP1	8887	broad.mit.edu	37	7	27788186	27788186	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:27788186G>A	ENST00000396319.2	+	2	131	c.43G>A	c.(43-45)Gcc>Acc	p.A15T	TAX1BP1_ENST00000433216.2_5'UTR|TAX1BP1_ENST00000409980.1_Missense_Mutation_p.A15T|TAX1BP1_ENST00000265393.6_Missense_Mutation_p.A15T|TAX1BP1_ENST00000543117.1_Missense_Mutation_p.A15T	NM_006024.6	NP_006015.4	Q86VP1	TAXB1_HUMAN	Tax1 (human T-cell leukemia virus type I) binding protein 1	15					anti-apoptosis|apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production	cytosol	identical protein binding|kinase binding|zinc ion binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(8)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31			GBM - Glioblastoma multiforme(3;0.0823)			TTCCAACTTTGCCCATGTCAT	0.358													8	69					0	0	1	0	0	A	27788186	G	A	27788186	3	1	81	1	0	0	0	0	1	0	0	0	15651	1319	46	2	45	2	TAX1BP1	7	27788186	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	222309	27788186	131350477	5915	9531											
TAX1BP1	8887	broad.mit.edu	37	7	27831736	27831736	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:27831736C>T	ENST00000396319.2	+	9	1238	c.1150C>T	c.(1150-1152)Cga>Tga	p.R384*	TAX1BP1_ENST00000433216.2_Nonsense_Mutation_p.R227*|TAX1BP1_ENST00000409980.1_Nonsense_Mutation_p.R384*|TAX1BP1_ENST00000265393.6_Nonsense_Mutation_p.R384*|TAX1BP1_ENST00000543117.1_Nonsense_Mutation_p.R384*	NM_006024.6	NP_006015.4	Q86VP1	TAXB1_HUMAN	Tax1 (human T-cell leukemia virus type I) binding protein 1	384	Oligomerization.				anti-apoptosis|apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production	cytosol	identical protein binding|kinase binding|zinc ion binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(8)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31			GBM - Glioblastoma multiforme(3;0.0823)			TGTCAACGTACGAGACAGAAC	0.438													6	95					0	0	1	0	0	T	27831736	C	T	27831736	4	4	81	1	0	0	0	0	0	1	0	0	15651	528	19	1	1180	1	TAX1BP1	7	27831736	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	43550	27831736	131306927	5916	9532											
CHN2	1124	broad.mit.edu	37	7	29552185	29552185	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:29552185C>T	ENST00000222792.6	+	13	1771	c.1241C>T	c.(1240-1242)aCt>aTt	p.T414I	CHN2_ENST00000421775.2_Missense_Mutation_p.T220I|CHN2_ENST00000435288.2_Missense_Mutation_p.T138I|CHN2_ENST00000410098.1_3'UTR|CHN2_ENST00000439711.2_Missense_Mutation_p.T232I|CHN2_ENST00000409041.4_Missense_Mutation_p.T278I|CHN2_ENST00000539406.1_Missense_Mutation_p.T489I|CHN2_ENST00000424025.2_Missense_Mutation_p.T233I|CHN2_ENST00000539389.1_Missense_Mutation_p.T270I|CHN2_ENST00000546235.1_Missense_Mutation_p.T399I|CHN2_ENST00000495789.2_Missense_Mutation_p.T427I	NM_004067.2	NP_004058.1	P52757	CHIO_HUMAN	chimerin 2	414	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|membrane	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity			breast(2)|endometrium(3)|large_intestine(2)|lung(12)|ovary(2)|urinary_tract(2)	23						TGCAGGGTTACTATGAATGAA	0.423													18	52					0	0	1	0	0	T	29552185	C	T	29552185	3	4	81	1	0	0	0	0	1	0	0	0	3385	565	20	2	1459	2	CHN2	7	29552185	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1720449	29552185	129586478	5917	9533											
WIPF3	644150	broad.mit.edu	37	7	29915574	29915574	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:29915574C>T	ENST00000409290.1	+	2	219	c.219C>T	c.(217-219)atC>atT	p.I73I	WIPF3_ENST00000242140.5_Silent_p.I73I|WIPF3_ENST00000409123.1_Silent_p.I73I	NM_001080529.2	NP_001073998.2	B8ZZV2	B8ZZV2_HUMAN	WAS/WASL interacting protein family, member 3	73										breast(2)|large_intestine(3)|lung(6)|ovary(1)	12						CCCCGCAGATCGAGAGTAAGT	0.627													21	14					0	0	1	0	0	T	29915574	C	T	29915574	2	4	81	1	0	0	0	0	0	0	0	1	17429	874	31	1		1	WIPF3	7	29915574	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	363389	29915574	129223089	5918	9534											
FKBP14	55033	broad.mit.edu	37	7	30054474	30054474	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:30054474A>G	ENST00000222803.5	-	4	688	c.513T>C	c.(511-513)caT>caC	p.H171H	AC007285.6_ENST00000419103.1_RNA|AC007285.6_ENST00000422239.1_RNA	NM_017946.3	NP_060416.1	Q9NWM8	FKB14_HUMAN	FK506 binding protein 14, 22 kDa	171					protein folding	endoplasmic reticulum lumen|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity			breast(1)|large_intestine(2)|lung(2)	5						CCACCGCACCATGTTTTTCAA	0.338													4	99					0	0	1	0	0	G	30054474	A	G	30054474	2	3	81	1	0	0	0	0	0	0	0	1	5937	214	8	3		3	FKBP14	7	30054474	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	138900	30054474	129084189	5919	9535											
FKBP14	55033	broad.mit.edu	37	7	30058726	30058726	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:30058726T>C	ENST00000222803.5	-	3	538	c.363A>G	c.(361-363)ccA>ccG	p.P121P	AC007285.6_ENST00000419103.1_RNA|AC007285.6_ENST00000422239.1_RNA	NM_017946.3	NP_060416.1	Q9NWM8	FKB14_HUMAN	FK506 binding protein 14, 22 kDa	121	PPIase FKBP-type.				protein folding	endoplasmic reticulum lumen|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity			breast(1)|large_intestine(2)|lung(2)	5						GTGTACTTTCTGGGGGAATTT	0.333													8	115					0	0	1	0	0	C	30058726	T	C	30058726	2	2	81	1	0	0	0	0	0	0	0	1	5937	1567	55	3		3	FKBP14	7	30058726	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	4252	30058726	129079937	5920	9536											
ZNRF2	223082	broad.mit.edu	37	7	30363339	30363339	+	Missense_Mutation	SNP	G	G	A	rs142290977		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:30363339G>A	ENST00000323037.4	+	2	1602	c.551G>A	c.(550-552)cGa>cAa	p.R184Q		NM_147128.3	NP_667339.1	Q8NHG8	ZNRF2_HUMAN	zinc and ring finger 2	184						cell junction|endosome membrane|lysosomal membrane|presynaptic membrane	ligase activity|zinc ion binding	p.R184L(1)		breast(1)|endometrium(1)|lung(2)|prostate(1)	5						ACAAAGCCACGAATAACCTAT	0.269													29	96					0	0	1	0	0	A	30363339	G	A	30363339	3	1	81	1	0	0	0	0	1	0	0	0	18254	1058	37	1	557	1	ZNRF2	7	30363339	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	304613	30363339	128775324	5921	9537											
ZNRF2	223082	broad.mit.edu	37	7	30402073	30402073	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:30402073G>A	ENST00000323037.4	+	4	1802		c.e4+1			NM_147128.3	NP_667339.1	Q8NHG8	ZNRF2_HUMAN	zinc and ring finger 2							cell junction|endosome membrane|lysosomal membrane|presynaptic membrane	ligase activity|zinc ion binding			breast(1)|endometrium(1)|lung(2)|prostate(1)	5						TGTTTTATAGGTAATTTTTTT	0.328													14	42					0	0	1	0	0	A	30402073	G	A	30402073	5	1	81	1	0	0	0	0	0	0	1	0	18254	1275	44	2		2	ZNRF2	7	30402073	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	38734	30402073	128736590	5922	9538											
NOD1	10392	broad.mit.edu	37	7	30491398	30491398	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:30491398C>A	ENST00000222823.4	-	6	2160	c.1635G>T	c.(1633-1635)caG>caT	p.Q545H		NM_006092.2	NP_006083.1	Q9Y239	NOD1_HUMAN	nucleotide-binding oligomerization domain containing 1	545					activation of MAPK activity|detection of bacterium|induction of apoptosis|inflammatory response|innate immune response|interleukin-8 biosynthetic process|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	basolateral plasma membrane|cytosol	ATP binding|CARD domain binding|caspase activator activity|peptidoglycan binding|protein homodimerization activity			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|skin(2)	39						GCATCCACTCCTGGAAGAACC	0.627													13	129					1.61879e-10	1.98515e-10	1	1	0	A	30491398	C	A	30491398	3	1	81	1	0	0	0	0	1	0	0	0	10563	680	24	4	1262	4	NOD1	7	30491398	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	89325	30491398	128647265	5923	9539											
GARS	2617	broad.mit.edu	37	7	30668232	30668232	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:30668232T>C	ENST00000389266.3	+	14	1997	c.1756T>C	c.(1756-1758)Tat>Cat	p.Y586H		NM_002047.2	NP_002038.2	P41250	SYG_HUMAN	glycyl-tRNA synthetase	586					cell death|diadenosine tetraphosphate biosynthetic process|glycyl-tRNA aminoacylation	cytosol|mitochondrial matrix|soluble fraction	ATP binding|glycine-tRNA ligase activity|protein dimerization activity			breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1)	24					Glycine(DB00145)	TAGGATCATGTATACGGTATT	0.368													6	145					0	0	1	0	0	C	30668232	T	C	30668232	3	2	81	1	0	0	0	0	1	0	0	0	6282	1638	57	3	1810	3	GARS	7	30668232	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	176834	30668232	128470431	5924	9540											
GARS	2617	broad.mit.edu	37	7	30673355	30673355	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:30673355C>A	ENST00000389266.3	+	17	2340	c.2099C>A	c.(2098-2100)tCt>tAt	p.S700Y		NM_002047.2	NP_002038.2	P41250	SYG_HUMAN	glycyl-tRNA synthetase	700					cell death|diadenosine tetraphosphate biosynthetic process|glycyl-tRNA aminoacylation	cytosol|mitochondrial matrix|soluble fraction	ATP binding|glycine-tRNA ligase activity|protein dimerization activity			breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1)	24					Glycine(DB00145)	CTCTAGATCTCTGAGCTGCCC	0.458													40	80					2.87052e-16	3.68187e-16	1	1	0	A	30673355	C	A	30673355	3	1	81	1	0	0	0	0	1	0	0	0	6282	913	32	4	2165	4	GARS	7	30673355	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	5123	30673355	128465308	5925	9541											
FAM188B	84182	broad.mit.edu	37	7	30876364	30876364	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:30876364A>G	ENST00000265299.6	+	7	1300	c.1223A>G	c.(1222-1224)gAc>gGc	p.D408G	INMT-FAM188B_ENST00000458257.1_3'UTR	NM_032222.2	NP_115598.2	Q4G0A6	F188B_HUMAN	family with sequence similarity 188, member B	408										endometrium(1)|large_intestine(5)|lung(19)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						AAACCAATTGACCTCTCAGTA	0.448													35	91					0	0	1	0	0	G	30876364	A	G	30876364	3	3	81	1	0	0	0	0	1	0	0	0	5546	275	10	3	1249	3	FAM188B	7	30876364	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	203009	30876364	128262299	5926	9542											
AQP1	358	broad.mit.edu	37	7	30951901	30951901	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:30951901G>A	ENST00000311813.4	+	1	432	c.377G>A	c.(376-378)cGc>cAc	p.R126H	AQP1_ENST00000434909.2_Missense_Mutation_p.R186H|AQP1_ENST00000509504.1_Missense_Mutation_p.R303H	NM_198098.2	NP_932766.1			aquaporin 1									p.R126H(1)		kidney(1)|large_intestine(2)|lung(9)	12		Melanoma(862;0.16)				TCGCTTGGCCGCAATGACGTG	0.612													28	97					0	0	1	0	0	A	30951901	G	A	30951901	3	1	81	1	0	0	0	0	1	0	0	0	818	1087	38	1	379	1	AQP1	7	30951901	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	75537	30951901	128186762	5927	9543											
GHRHR	2692	broad.mit.edu	37	7	31009572	31009572	+	Missense_Mutation	SNP	C	C	T	rs138751215		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:31009572C>T	ENST00000409904.3	+	1	425	c.167C>T	c.(166-168)gCt>gTt	p.A56V	GHRHR_ENST00000409316.1_5'UTR|GHRHR_ENST00000326139.2_Missense_Mutation_p.A120V			Q02643	GHRHR_HUMAN	growth hormone releasing hormone receptor	120					activation of adenylate cyclase activity by G-protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation|positive regulation of growth hormone secretion|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of multicellular organism growth|response to estrogen stimulus|response to glucocorticoid stimulus	cell surface|integral to membrane|nuclear inner membrane|nuclear matrix|nuclear outer membrane|plasma membrane|stored secretory granule	growth factor binding|growth hormone-releasing hormone receptor activity|peptide hormone binding			biliary_tract(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35					Sermorelin(DB00010)	GAGCTGCTGGCTGAGGAGGTA	0.577													8	99					0	0	1	0	0	T	31009572	C	T	31009572	3	4	81	1	0	0	0	0	1	0	0	0	6415	797	28	2	373	2	GHRHR	7	31009572	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	57671	31009572	128129091	5928	9544											
GHRHR	2692	broad.mit.edu	37	7	31011684	31011684	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:31011684G>A	ENST00000409904.3	+	3	637	c.379G>A	c.(379-381)Gac>Aac	p.D127N	GHRHR_ENST00000409316.1_Silent_p.T8T|GHRHR_ENST00000326139.2_Missense_Mutation_p.D191N|GHRHR_ENST00000461424.1_3'UTR			Q02643	GHRHR_HUMAN	growth hormone releasing hormone receptor	191					activation of adenylate cyclase activity by G-protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation|positive regulation of growth hormone secretion|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of multicellular organism growth|response to estrogen stimulus|response to glucocorticoid stimulus	cell surface|integral to membrane|nuclear inner membrane|nuclear matrix|nuclear outer membrane|plasma membrane|stored secretory granule	growth factor binding|growth hormone-releasing hormone receptor activity|peptide hormone binding			biliary_tract(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35					Sermorelin(DB00010)	CCACAGCGACGACACTGACCA	0.587													27	30					0	0	1	0	0	A	31011684	G	A	31011684	3	1	81	1	0	0	0	0	1	0	0	0	6415	1058	37	1	593	1	GHRHR	7	31011684	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2112	31011684	128126979	5929	9545											
GHRHR	2692	broad.mit.edu	37	7	31018826	31018826	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:31018826C>T	ENST00000409904.3	+	10	1305	c.1047C>T	c.(1045-1047)cgC>cgT	p.R349R	GHRHR_ENST00000409316.1_3'UTR|GHRHR_ENST00000326139.2_Silent_p.R413R|GHRHR_ENST00000461424.1_Intron			Q02643	GHRHR_HUMAN	growth hormone releasing hormone receptor	413					activation of adenylate cyclase activity by G-protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation|positive regulation of growth hormone secretion|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of multicellular organism growth|response to estrogen stimulus|response to glucocorticoid stimulus	cell surface|integral to membrane|nuclear inner membrane|nuclear matrix|nuclear outer membrane|plasma membrane|stored secretory granule	growth factor binding|growth hormone-releasing hormone receptor activity|peptide hormone binding			biliary_tract(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35					Sermorelin(DB00010)	CGCCTTCCCGCTCGGCGGCAA	0.602													5	54					0	0	1	0	0	T	31018826	C	T	31018826	2	4	81	1	0	0	0	0	0	0	0	1	6415	784	28	2		2	GHRHR	7	31018826	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	7142	31018826	128119837	5930	9546											
ADCYAP1R1	117	broad.mit.edu	37	7	31117681	31117681	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:31117681C>A	ENST00000304166.4	+	4	522	c.233C>A	c.(232-234)cCt>cAt	p.P78H	ADCYAP1R1_ENST00000409363.1_Missense_Mutation_p.P78H|ADCYAP1R1_ENST00000396211.2_Missense_Mutation_p.P78H|ADCYAP1R1_ENST00000409489.1_Missense_Mutation_p.P78H	NM_001118.4|NM_001199635.1|NM_001199636.1	NP_001109.2|NP_001186564.1|NP_001186565.1	P41586	PACR_HUMAN	adenylate cyclase activating polypeptide 1 (pituitary) receptor type I	78					activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|spermatogenesis	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity			endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1)	35						GTCAGCTGCCCTGAGCTCTTC	0.592													9	62					2.17888e-05	2.43576e-05	1	1	0	A	31117681	C	A	31117681	3	1	81	1	0	0	0	0	1	0	0	0	302	681	24	4	243	4	ADCYAP1R1	7	31117681	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	98855	31117681	128020982	5931	9547											
NEUROD6	63974	broad.mit.edu	37	7	31377922	31377922	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:31377922G>A	ENST00000297142.3	-	2	1283	c.961C>T	c.(961-963)Cgc>Tgc	p.R321C		NM_022728.2	NP_073565.2	Q96NK8	NDF6_HUMAN	neuronal differentiation 6	321					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.R321C(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	32						GATTGGCTGCGCAGATGTAAG	0.478													5	73					0	0	1	0	0	A	31377922	G	A	31377922	3	1	81	1	0	0	0	0	1	0	0	0	10398	1087	38	1	56	1	NEUROD6	7	31377922	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	260241	31377922	127760741	5932	9548											
CCDC129	223075	broad.mit.edu	37	7	31592682	31592682	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:31592682G>A	ENST00000319386.3	+	2	1037	c.44G>A	c.(43-45)gGc>gAc	p.G15D	CCDC129_ENST00000407970.3_Missense_Mutation_p.G15D|CCDC129_ENST00000451887.2_Missense_Mutation_p.G41D|CCDC129_ENST00000482748.1_Intron			Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	15										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						CTTCAGGAAGGCCAGGAAAAG	0.498													7	5					0	0	1	0	0	A	31592682	G	A	31592682	3	1	81	1	0	0	0	0	1	0	0	0	2782	1203	42	2	46	2	CCDC129	7	31592682	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	214760	31592682	127545981	5933	9549											
CCDC129	223075	broad.mit.edu	37	7	31617984	31617984	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:31617984C>T	ENST00000409210.1	+	6	1014	c.830C>T	c.(829-831)aCt>aTt	p.T277I	CCDC129_ENST00000407970.3_Missense_Mutation_p.T369I|CCDC129_ENST00000451887.2_Missense_Mutation_p.T395I|CCDC129_ENST00000319386.3_Intron			Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	369										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						TTATTTCAGACTAACAAGCTC	0.517													23	28					0	0	1	0	0	T	31617984	C	T	31617984	3	4	81	1	0	0	0	0	1	0	0	0	2782	565	20	2	1132	2	CCDC129	7	31617984	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	25302	31617984	127520679	5934	9550											
CCDC129	223075	broad.mit.edu	37	7	31682426	31682426	+	Missense_Mutation	SNP	C	C	T	rs138066602	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:31682426C>T	ENST00000319386.3	+	11	1991	c.998C>T	c.(997-999)gCg>gTg	p.A333V	CCDC129_ENST00000407970.3_Missense_Mutation_p.A481V|CCDC129_ENST00000451887.2_Missense_Mutation_p.A507V|CCDC129_ENST00000409210.1_Missense_Mutation_p.A389V			Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	481										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						AAAAGTAGGGCGAGCATGTCT	0.512													36	99					0	0	1	0	0	T	31682426	C	T	31682426	3	4	81	1	0	0	0	0	1	0	0	0	2782	768	27	1	1480	1	CCDC129	7	31682426	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	64442	31682426	127456237	5935	9551											
CCDC129	223075	broad.mit.edu	37	7	31682533	31682533	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:31682533C>A	ENST00000319386.3	+	11	2098	c.1105C>A	c.(1105-1107)Ctg>Atg	p.L369M	CCDC129_ENST00000407970.3_Missense_Mutation_p.L517M|CCDC129_ENST00000451887.2_Missense_Mutation_p.L543M|CCDC129_ENST00000409210.1_Missense_Mutation_p.L425M			Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	517										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						GCCACCAGAGCTGTATATCCC	0.542													100	70					4.91162e-27	6.51813e-27	1	1	0	A	31682533	C	A	31682533	3	1	81	1	0	0	0	0	1	0	0	0	2782	796	28	4	1587	4	CCDC129	7	31682533	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	107	31682533	127456130	5936	9552											
PDE1C	5137	broad.mit.edu	37	7	31855724	31855724	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:31855724C>T	ENST00000396184.3	-	16	1831	c.1627G>A	c.(1627-1629)Gca>Aca	p.A543T	PDE1C_ENST00000479980.1_5'UTR|PDE1C_ENST00000321453.7_Missense_Mutation_p.A543T|PDE1C_ENST00000396182.2_Missense_Mutation_p.A543T|PDE1C_ENST00000396191.1_Missense_Mutation_p.A543T|PDE1C_ENST00000396193.1_Missense_Mutation_p.A603T	NM_005020.2	NP_005011.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	543					activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	p.A543S(2)|p.A603S(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			TGCTCCTCTGCGGCCAGGCGA	0.502													10	180					0	0	1	0	0	T	31855724	C	T	31855724	3	4	81	1	0	0	0	0	1	0	0	0	11682	768	27	1	289	1	PDE1C	7	31855724	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	173191	31855724	127282939	5937	9553											
PDE1C	5137	broad.mit.edu	37	7	31877483	31877483	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:31877483C>T	ENST00000396184.3	-	11	1287		c.e11+1		PDE1C_ENST00000321453.7_Splice_Site|PDE1C_ENST00000396182.2_Splice_Site|PDE1C_ENST00000396191.1_Splice_Site|PDE1C_ENST00000396193.1_Splice_Site	NM_005020.2	NP_005011.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa						activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			AGCACACTTACGCTTCTGGCT	0.423													54	147					0	0	1	0	0	T	31877483	C	T	31877483	5	4	81	1	0	0	0	0	0	0	1	0	11682	550	19	1	853	1	PDE1C	7	31877483	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	21759	31877483	127261180	5938	9554											
PDE1C	5137	broad.mit.edu	37	7	32209452	32209452	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:32209452C>T	ENST00000396193.1	-	3	846	c.253G>A	c.(253-255)Gct>Act	p.A85T		NM_001191058.1	NP_001177987.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	0					activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			AATTCATCAGCTAGGATCTCC	0.498													20	64					0	0	1	0	0	T	32209452	C	T	32209452	3	4	81	1	0	0	0	0	1	0	0	0	11682	812	28	2		2	PDE1C	7	32209452	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	331969	32209452	126929211	5939	9555											
PDE1C	5137	broad.mit.edu	37	7	32209518	32209518	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:32209518C>A	ENST00000396193.1	-	3	780	c.187G>T	c.(187-189)Ggg>Tgg	p.G63W		NM_001191058.1	NP_001177987.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	0					activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			TTGACATTCCCTGTGAGCCCA	0.517													9	154					0.000673444	0.000721718	1	1	0	A	32209518	C	A	32209518	3	1	81	1	0	0	0	0	1	0	0	0	11682	696	24	4		4	PDE1C	7	32209518	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	66	32209518	126929145	5940	9556											
AVL9	23080	broad.mit.edu	37	7	32615649	32615649	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:32615649C>T	ENST00000318709.4	+	13	1874	c.1653C>T	c.(1651-1653)agC>agT	p.S551S	AVL9_ENST00000404479.1_Intron|AVL9_ENST00000409301.1_Silent_p.S551S	NM_015060.1	NP_055875.1	Q8NBF6	AVL9_HUMAN	AVL9 homolog (S. cerevisiase)	551						integral to membrane				endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						TGTGGAACAGCAACAAGCATC	0.398													45	128					0	0	1	0	0	T	32615649	C	T	32615649	2	4	81	1	0	0	0	0	0	0	0	1	1226	709	25	2		2	AVL9	7	32615649	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	406131	32615649	126523014	5941	9557											
FKBP9	11328	broad.mit.edu	37	7	33039868	33039868	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:33039868C>T	ENST00000242209.4	+	8	1537	c.1368C>T	c.(1366-1368)ggC>ggT	p.G456G	FKBP9_ENST00000538443.1_Silent_p.G318G|FKBP9_ENST00000538336.1_Silent_p.G509G|AVL9_ENST00000404479.1_Intron|FKBP9_ENST00000490776.2_Silent_p.G224G	NM_001284343.1|NM_007270.3	NP_001271272.1|NP_009201.2	O95302	FKBP9_HUMAN	FK506 binding protein 9, 63 kDa	456	PPIase FKBP-type 4.				protein folding	endoplasmic reticulum|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity			central_nervous_system(13)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	39			GBM - Glioblastoma multiforme(11;0.0156)			GGGAAGCTGGCGTGGGTGAGT	0.527													8	26					0	0	1	0	0	T	33039868	C	T	33039868	2	4	81	1	0	0	0	0	0	0	0	1	5948	755	27	1		1	FKBP9	7	33039868	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	424219	33039868	126098795	5942	9558											
BBS9	27241	broad.mit.edu	37	7	33380508	33380508	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:33380508G>A	ENST00000242067.6	+	11	1719		c.e11-1		BBS9_ENST00000355070.2_Splice_Site|BBS9_ENST00000350941.3_Splice_Site|BBS9_ENST00000354265.4_Splice_Site|BBS9_ENST00000396127.2_Splice_Site	NM_198428.2	NP_940820.1	Q3SYG4	PTHB1_HUMAN	Bardet-Biedl syndrome 9						fat cell differentiation|response to stimulus|visual perception	BBSome|cilium membrane|microtubule organizing center|nucleus	protein binding		BBS9/PKD1L1(2)	NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	50			GBM - Glioblastoma multiforme(11;0.0894)			TTAAATCACAGGTGTTTGGCC	0.308									Bardet-Biedl syndrome				40	30					0	0	1	0	0	A	33380508	G	A	33380508	5	1	81	1	0	0	0	0	0	0	1	0	1340	1014	35	2	1236	2	BBS9	7	33380508	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	340640	33380508	125758155	5943	9559											
BMPER	168667	broad.mit.edu	37	7	34125702	34125702	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:34125702C>T	ENST00000297161.2	+	14	2117	c.1743C>T	c.(1741-1743)taC>taT	p.Y581Y	BMPER_ENST00000426693.1_Silent_p.Y581Y	NM_133468.4	NP_597725.1	Q8N8U9	BMPER_HUMAN	BMP binding endothelial regulator	581					blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation	extracellular space				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						CCACTTTCTACCGGTAAGTAC	0.483													16	38					0	0	1	0	0	T	34125702	C	T	34125702	2	4	81	1	0	0	0	0	0	0	0	1	1467	518	18	2		2	BMPER	7	34125702	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	745194	34125702	125012961	5944	9560											
NPSR1	387129	broad.mit.edu	37	7	34698114	34698114	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:34698114G>T	ENST00000360581.1	+	1	218	c.90G>T	c.(88-90)gtG>gtT	p.V30V	NPSR1_ENST00000381553.3_Silent_p.V30V|NPSR1_ENST00000381542.1_Silent_p.V30V|AC005493.1_ENST00000399077.1_Intron|NPSR1_ENST00000381539.3_Silent_p.V30V|NPSR1-AS1_ENST00000419766.1_RNA|NPSR1_ENST00000531252.1_Silent_p.V30V|NPSR1_ENST00000465305.1_Silent_p.V30V|NPSR1_ENST00000359791.1_Silent_p.V30V	NM_207172.1	NP_997055.1	Q6W5P4	NPSR1_HUMAN	neuropeptide S receptor 1	30						cytoplasm|integral to membrane|plasma membrane	vasopressin receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7)	31					Halothane(DB01159)	CTGAAACAGTGACTTTTACTG	0.507													6	80					0.0215528	0.0221217	1	1	0	T	34698114	G	T	34698114	2	4	81	1	0	0	0	0	0	0	0	1	10648	1277	45	5		5	NPSR1	7	34698114	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	572412	34698114	124440549	5945	9561											
NPSR1	387129	broad.mit.edu	37	7	34888157	34888157	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:34888157C>T	ENST00000360581.1	+	8	1035	c.907C>T	c.(907-909)Cca>Tca	p.P303S	NPSR1_ENST00000381542.1_Missense_Mutation_p.P237S|NPSR1_ENST00000381539.3_Missense_Mutation_p.P303S|NPSR1_ENST00000531252.1_Missense_Mutation_p.P292S|NPSR1_ENST00000359791.1_Missense_Mutation_p.P303S	NM_207172.1	NP_997055.1	Q6W5P4	NPSR1_HUMAN	neuropeptide S receptor 1	303						cytoplasm|integral to membrane|plasma membrane	vasopressin receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7)	31					Halothane(DB01159)	CAACCTCCTTCCAGACACCCA	0.493													101	253					0	0	1	0	0	T	34888157	C	T	34888157	3	4	81	1	0	0	0	0	1	0	0	0	10648	855	30	2	937	2	NPSR1	7	34888157	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	190043	34888157	124250506	5946	9562											
DPY19L1	23333	broad.mit.edu	37	7	34985313	34985313	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:34985313A>C	ENST00000310974.4	-	16	1435	c.1291T>G	c.(1291-1293)Tgg>Ggg	p.W431G		NM_015283.1	NP_056098.1	Q2PZI1	D19L1_HUMAN	dpy-19-like 1 (C. elegans)	431						integral to membrane				endometrium(3)|kidney(5)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	31						AAGACACCCCACATATCACTA	0.264													5	56					0	0	1	0	0	C	34985313	A	C	34985313	3	2	81	1	0	0	0	0	1	0	0	0	4766	159	6	5	764	5	DPY19L1	7	34985313	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	97156	34985313	124153350	5947	9563											
EEPD1	80820	broad.mit.edu	37	7	36194070	36194070	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:36194070C>T	ENST00000242108.4	+	2	855	c.137C>T	c.(136-138)aCg>aTg	p.T46M	EEPD1_ENST00000534978.1_Missense_Mutation_p.T46M	NM_030636.2	NP_085139.2	Q7L9B9	EEPD1_HUMAN	endonuclease/exonuclease/phosphatase family domain containing 1	46	HhH.				DNA repair		DNA binding			endometrium(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|skin(1)	18						AACACTGCCACGGAGGAGGAG	0.587													33	104					0	0	1	0	0	T	36194070	C	T	36194070	3	4	81	1	0	0	0	0	1	0	0	0	4958	536	19	1	139	1	EEPD1	7	36194070	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1208757	36194070	122944593	5948	9564											
KIAA0895	23366	broad.mit.edu	37	7	36397121	36397121	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:36397121T>G	ENST00000317020.6	-	2	404	c.104A>C	c.(103-105)aAa>aCa	p.K35T	KIAA0895_ENST00000440378.1_Missense_Mutation_p.K35T|KIAA0895_ENST00000480192.1_Intron|KIAA0895_ENST00000436884.1_5'UTR|KIAA0895_ENST00000297063.6_Missense_Mutation_p.K86T|KIAA0895_ENST00000338533.5_Missense_Mutation_p.K73T|KIAA0895_ENST00000415803.2_Missense_Mutation_p.K73T|KIAA0895_ENST00000453212.1_Intron	NM_015314.2	NP_056129.2	Q8NCT3	K0895_HUMAN	KIAA0895	86	Arg-rich.									breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						AATGCTTCTTTTGTTGTCAAT	0.368													5	60					0	0	1	0	0	G	36397121	T	G	36397121	3	3	81	1	0	0	0	0	1	0	0	0	8239	1841	64	5	1325	5	KIAA0895	7	36397121	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	203051	36397121	122741542	5949	9565											
ANLN	54443	broad.mit.edu	37	7	36450152	36450152	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:36450152C>T	ENST00000265748.2	+	6	1347	c.1126C>T	c.(1126-1128)Cgc>Tgc	p.R376C	ANLN_ENST00000495714.1_3'UTR|ANLN_ENST00000396068.2_Missense_Mutation_p.R376C	NM_018685.2	NP_061155.2	Q9NQW6	ANLN_HUMAN	anillin, actin binding protein	376	Interaction with F-actin.				cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly	actomyosin contractile ring|nucleus	actin binding			breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2)	45						TTTCCTGGAACGCTTTGGAGA	0.398													39	20					0	0	1	0	0	T	36450152	C	T	36450152	3	4	81	1	0	0	0	0	1	0	0	0	688	536	19	1	1148	1	ANLN	7	36450152	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	53031	36450152	122688511	5950	9566											
AOAH	313	broad.mit.edu	37	7	36571896	36571896	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:36571896A>T	ENST00000431169.1	-	17	1661	c.1361T>A	c.(1360-1362)cTc>cAc	p.L454H	AOAH_ENST00000538464.1_Missense_Mutation_p.L176H|AOAH_ENST00000258749.5_Missense_Mutation_p.L454H|AOAH_ENST00000491444.1_5'UTR|AOAH_ENST00000535891.1_Missense_Mutation_p.L422H	NM_001177506.1	NP_001170977.1	P28039	AOAH_HUMAN	acyloxyacyl hydrolase (neutrophil)	454					inflammatory response|lipid metabolic process	extracellular region	acyloxyacyl hydrolase activity|lipoprotein lipase activity			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(21)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	41						GCTCACCTGGAGGCAGTTCAG	0.527													6	127					0	0	1	0	0	T	36571896	A	T	36571896	3	4	81	1	0	0	0	0	1	0	0	0	722	304	11	5	727	5	AOAH	7	36571896	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	121744	36571896	122566767	5951	9567											
AOAH	313	broad.mit.edu	37	7	36713578	36713578	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:36713578A>G	ENST00000431169.1	-	3	560	c.260T>C	c.(259-261)aTt>aCt	p.I87T	AOAH_ENST00000258749.5_Missense_Mutation_p.I87T|AOAH_ENST00000535891.1_Missense_Mutation_p.I55T	NM_001177506.1	NP_001170977.1	P28039	AOAH_HUMAN	acyloxyacyl hydrolase (neutrophil)	87	Saposin B-type.				inflammatory response|lipid metabolic process	extracellular region	acyloxyacyl hydrolase activity|lipoprotein lipase activity			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(21)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	41						AAACTTGTCAATGACTAAATA	0.348													7	59					0	0	1	0	0	G	36713578	A	G	36713578	3	3	81	1	0	0	0	0	1	0	0	0	722	101	4	3	1884	3	AOAH	7	36713578	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	141682	36713578	122425085	5952	9568											
ELMO1	9844	broad.mit.edu	37	7	36927174	36927174	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:36927174G>A	ENST00000310758.4	-	18	2352	c.1705C>T	c.(1705-1707)Cgg>Tgg	p.R569W	ELMO1_ENST00000448602.1_Missense_Mutation_p.R569W|ELMO1_ENST00000341056.3_Missense_Mutation_p.R271W|ELMO1_ENST00000396045.3_Missense_Mutation_p.R89W|ELMO1_ENST00000396040.2_Missense_Mutation_p.R89W|ELMO1_ENST00000442504.1_Missense_Mutation_p.R569W	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	569	PH.				actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						CCTTGCCTCCGCCGGGCATTG	0.512													5	42					0	0	1	0	0	A	36927174	G	A	36927174	3	1	81	1	0	0	0	0	1	0	0	0	5093	1086	38	1	498	1	ELMO1	7	36927174	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	213596	36927174	122211489	5953	9569											
GPR141	353345	broad.mit.edu	37	7	37780630	37780630	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:37780630G>A	ENST00000447769.1	+	4	924	c.635G>A	c.(634-636)cGc>cAc	p.R212H	EPDR1_ENST00000476620.1_Intron|GPR141_ENST00000334425.1_Missense_Mutation_p.R212H|GPR141_ENST00000461610.1_Intron			Q7Z602	GP141_HUMAN	G protein-coupled receptor 141	212						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(13)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CAGAAGCTACGCCACTCTTTA	0.413													49	149					0	0	1	0	0	A	37780630	G	A	37780630	3	1	81	1	0	0	0	0	1	0	0	0	6689	1087	38	1	637	1	GPR141	7	37780630	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	853456	37780630	121358033	5954	9570											
SFRP4	6424	broad.mit.edu	37	7	37953882	37953883	+	Splice_Site	INS	-	-	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:37953882_37953883insA	ENST00000436072.2	-	3	904		c.e3-2		EPDR1_ENST00000476620.1_Intron	NM_003014.3	NP_003005.2	Q6FHJ7	SFRP4_HUMAN	secreted frizzled-related protein 4						brain development|cell differentiation|decidualization|embryo development|epithelium development|gonad development|mammary gland involution|menstrual cycle phase|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell proliferation|negative regulation of JNK cascade|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of sodium-dependent phosphate transport|phosphate ion homeostasis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epidermal cell differentiation|positive regulation of gene expression|positive regulation of receptor internalization|vasculature development|Wnt receptor signaling pathway	cell surface|cytoplasm|extracellular space|nucleus	PDZ domain binding|Wnt receptor activity|Wnt-protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						TGCACCGATCTAAAAAAGGCAG	0.426													29	91	---	---	---	---						A	37953883	-	A	37953882	8	5	81	1	0	1	1	0	0	0	1	0	14217	1536	53	0	531	0	SFRP4	7	37953882	Splice_Site	INS	-	TCGA-DU-6392-01A-11D-1705-08	173252	37953882	121184781	5955	9571											
EPDR1	54749	broad.mit.edu	37	7	37960397	37960397	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:37960397G>A	ENST00000559325.1	+	1	235	c.216G>A	c.(214-216)agG>agA	p.R72R	EPDR1_ENST00000476620.1_Intron|EPDR1_ENST00000423717.1_5'UTR|EPDR1_ENST00000199448.4_5'UTR			Q9UM22	EPDR1_HUMAN	ependymin related 1	0					cell-matrix adhesion	extracellular region	calcium ion binding			breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	22						AGCGGCAGAGGCCACCGAAGG	0.677													25	22					0	0	1	0	0	A	37960397	G	A	37960397	2	1	81	1	0	0	0	0	0	0	0	1	5191	1194	42	2		2	EPDR1	7	37960397	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	6515	37960397	121178266	5956	9572											
VPS41	27072	broad.mit.edu	37	7	38857475	38857475	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:38857475G>T	ENST00000310301.4	-	7	446	c.392C>A	c.(391-393)gCt>gAt	p.A131D	VPS41_ENST00000395969.2_Missense_Mutation_p.A106D	NM_014396.3	NP_055211.2	P49754	VPS41_HUMAN	vacuolar protein sorting 41 homolog (S. cerevisiae)	131					Golgi vesicle transport|intracellular protein transport|vesicle-mediated transport	cytosol|Golgi-associated vesicle|HOPS complex|membrane fraction	zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	44						TGGGTGCACAGCAATAATCTA	0.463													27	54					2.49675e-24	3.29553e-24	1	1	0	T	38857475	G	T	38857475	3	4	81	1	0	0	0	0	1	0	0	0	17270	971	34	4	2264	4	VPS41	7	38857475	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	897078	38857475	120281188	5957	9573											
VPS41	27072	broad.mit.edu	37	7	38902182	38902182	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:38902182A>G	ENST00000310301.4	-	4	263	c.209T>C	c.(208-210)cTt>cCt	p.L70P	VPS41_ENST00000395969.2_Missense_Mutation_p.L70P	NM_014396.3	NP_055211.2	P49754	VPS41_HUMAN	vacuolar protein sorting 41 homolog (S. cerevisiae)	70					Golgi vesicle transport|intracellular protein transport|vesicle-mediated transport	cytosol|Golgi-associated vesicle|HOPS complex|membrane fraction	zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	44						CTGGACATCAAGTAAATAAAC	0.308													8	74					0	0	1	0	0	G	38902182	A	G	38902182	3	3	81	1	0	0	0	0	1	0	0	0	17270	72	3	3	2459	3	VPS41	7	38902182	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	44707	38902182	120236481	5958	9574											
RALA	5898	broad.mit.edu	37	7	39730138	39730138	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:39730138G>A	ENST00000005257.2	+	3	652	c.272G>A	c.(271-273)tGt>tAt	p.C91Y	RALA_ENST00000468201.1_Intron	NM_005402.3	NP_005393.2	P11233	RALA_HUMAN	v-ral simian leukemia viral oncogene homolog A (ras related)	91					actin cytoskeleton reorganization|cell cycle|chemotaxis|cytokinesis|exocytosis|interspecies interaction between organisms|membrane raft localization|nerve growth factor receptor signaling pathway|positive regulation of filopodium assembly|Ras protein signal transduction|regulation of exocytosis	cell surface|cleavage furrow|cytosol|midbody|plasma membrane	Edg-2 lysophosphatidic acid receptor binding|GTP binding|GTPase activity			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(9)|skin(3)	16						GGGTTCCTCTGTGTTTTCTCT	0.443													5	74					0	0	1	0	0	A	39730138	G	A	39730138	3	1	81	1	0	0	0	0	1	0	0	0	13062	1377	48	2	278	2	RALA	7	39730138	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	827956	39730138	119408525	5959	9575											
CDK13	8621	broad.mit.edu	37	7	40027399	40027399	+	Silent	SNP	G	G	A	rs144712960		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:40027399G>A	ENST00000181839.4	+	2	2018	c.1413G>A	c.(1411-1413)gcG>gcA	p.A471A	CDK13_ENST00000340829.5_Silent_p.A471A	NM_003718.4|NM_031267.3	NP_003709.3|NP_112557.2	Q14004	CDK13_HUMAN	cyclin-dependent kinase 13	471					alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1)	49						cagaagcagcgaaagctgcag	0.502													23	12					0	0	1	0	0	A	40027399	G	A	40027399	2	1	81	1	0	0	0	0	0	0	0	1	3151	1045	37	1		1	CDK13	7	40027399	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	297261	40027399	119111264	5960	9576											
CDK13	8621	broad.mit.edu	37	7	40133841	40133841	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:40133841A>G	ENST00000181839.4	+	14	4406	c.3801A>G	c.(3799-3801)ccA>ccG	p.P1267P	CDK13_ENST00000340829.5_Silent_p.P1207P	NM_003718.4|NM_031267.3	NP_003709.3|NP_112557.2	Q14004	CDK13_HUMAN	cyclin-dependent kinase 13	1267					alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1)	49						CTCCTGAACCACCACCAGTCA	0.527													8	129					0	0	1	0	0	G	40133841	A	G	40133841	2	3	81	1	0	0	0	0	0	0	0	1	3151	146	6	3		3	CDK13	7	40133841	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	106442	40133841	119004822	5961	9577											
CDK13	8621	broad.mit.edu	37	7	40133900	40133900	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:40133900C>T	ENST00000181839.4	+	14	4465	c.3860C>T	c.(3859-3861)aCc>aTc	p.T1287I	CDK13_ENST00000340829.5_Missense_Mutation_p.T1227I	NM_003718.4|NM_031267.3	NP_003709.3|NP_112557.2	Q14004	CDK13_HUMAN	cyclin-dependent kinase 13	1287					alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1)	49						GTACCCACCACCAGTTCTTCA	0.542													29	104					0	0	1	0	0	T	40133900	C	T	40133900	3	4	81	1	0	0	0	0	1	0	0	0	3151	507	18	2	3914	2	CDK13	7	40133900	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	59	40133900	119004763	5962	9578											
GLI3	2737	broad.mit.edu	37	7	42004149	42004149	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:42004149C>T	ENST00000395925.3	-	15	4606	c.4522G>A	c.(4522-4524)Gcc>Acc	p.A1508T	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	1508	Asp/Glu-rich (acidic).				negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						TCTATGATGGCATCGAAGTCA	0.552									Pallister-Hall syndrome;Greig Cephalopolysyndactyly				30	33					0	0	1	0	0	T	42004149	C	T	42004149	3	4	81	1	0	0	0	0	1	0	0	0	6481	710	25	2	224	2	GLI3	7	42004149	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1870249	42004149	117134514	5963	9579											
GLI3	2737	broad.mit.edu	37	7	42004302	42004302	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:42004302C>A	ENST00000395925.3	-	15	4453	c.4369G>T	c.(4369-4371)Gct>Tct	p.A1457S	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	1457					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						AATGAACCAGCTTTCGTGTCT	0.517									Pallister-Hall syndrome;Greig Cephalopolysyndactyly				17	48					3.41278e-10	4.16681e-10	1	1	0	A	42004302	C	A	42004302	3	1	81	1	0	0	0	0	1	0	0	0	6481	797	28	4	377	4	GLI3	7	42004302	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	153	42004302	117134361	5964	9580											
GLI3	2737	broad.mit.edu	37	7	42005518	42005518	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:42005518C>T	ENST00000395925.3	-	15	3237	c.3153G>A	c.(3151-3153)cgG>cgA	p.R1051R	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	1051					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						CGCCCTCGGGCCGCGTGTAAT	0.657									Pallister-Hall syndrome;Greig Cephalopolysyndactyly				11	33					0	0	1	0	0	T	42005518	C	T	42005518	2	4	81	1	0	0	0	0	0	0	0	1	6481	726	26	2		2	GLI3	7	42005518	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1216	42005518	117133145	5965	9581											
GLI3	2737	broad.mit.edu	37	7	42065984	42065984	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:42065984G>A	ENST00000395925.3	-	8	1140	c.1056C>T	c.(1054-1056)tcC>tcT	p.S352S	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	352					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						AGACGGGCGCGGAAGAGTAGG	0.537									Pallister-Hall syndrome;Greig Cephalopolysyndactyly				11	23					0	0	1	0	0	A	42065984	G	A	42065984	2	1	81	1	0	0	0	0	0	0	0	1	6481	1103	39	1		1	GLI3	7	42065984	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	60466	42065984	117072679	5966	9582											
C7orf25	79020	broad.mit.edu	37	7	42950214	42950214	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:42950214C>A	ENST00000350427.4	-	2	561	c.286G>T	c.(286-288)Gat>Tat	p.D96Y	PSMA2_ENST00000442788.1_3'UTR|C7orf25_ENST00000438029.1_Missense_Mutation_p.D96Y|C7orf25_ENST00000431882.2_Missense_Mutation_p.D154Y|C7orf25_ENST00000447342.1_Missense_Mutation_p.D96Y			Q9BPX7	CG025_HUMAN	chromosome 7 open reading frame 25	96										endometrium(6)|kidney(1)|large_intestine(7)|lung(2)|skin(1)	17						CCTAAGGTATCTGTATAACCA	0.428													13	188					0.00316338	0.00333123	1	1	0	A	42950214	C	A	42950214	3	1	81	1	0	0	0	0	1	0	0	0	2396	913	32	4	983	4	C7orf25	7	42950214	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	884230	42950214	116188449	5967	9583											
PSMA2	5683	broad.mit.edu	37	7	42964361	42964361	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:42964361T>C	ENST00000538645.1	-	3	225	c.53A>G	c.(52-54)cAa>cGa	p.Q18R	PSMA2_ENST00000442788.1_Missense_Mutation_p.Q96R|PSMA2_ENST00000445517.1_Missense_Mutation_p.Q26R|PSMA2_ENST00000223321.4_Missense_Mutation_p.Q96R			P25787	PSA2_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 2	96					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|response to virus|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex, alpha-subunit complex	protein binding|threonine-type endopeptidase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(2)	10						AAGATAGTATTGTTGAGCTAG	0.403													18	78					0	0	1	0	0	C	42964361	T	C	42964361	3	2	81	1	0	0	0	0	1	0	0	0	12716	1812	63	3	437	3	PSMA2	7	42964361	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	14147	42964361	116174302	5968	9584											
HECW1	23072	broad.mit.edu	37	7	43483896	43483896	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:43483896C>T	ENST00000395891.2	+	11	1730	c.1125C>T	c.(1123-1125)agC>agT	p.S375S	HECW1_ENST00000453890.1_Silent_p.S375S	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1						protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity	p.S354S(1)		NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						TGATGGAAAGCGGCAGTGGGG	0.552													11	32					0	0	1	0	0	T	43483896	C	T	43483896	2	4	81	1	0	0	0	0	0	0	0	1	7083	767	27	1		1	HECW1	7	43483896	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	519535	43483896	115654767	5969	9585											
HECW1	23072	broad.mit.edu	37	7	43508613	43508613	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:43508613A>T	ENST00000395891.2	+	16	3613	c.3008A>T	c.(3007-3009)aAc>aTc	p.N1003I	HECW1_ENST00000453890.1_Missense_Mutation_p.N969I	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1						protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						TACCAGCACAACCGGGACTTG	0.532													66	31					0	0	1	0	0	T	43508613	A	T	43508613	3	4	81	1	0	0	0	0	1	0	0	0	7083	43	2	5	3062	5	HECW1	7	43508613	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	24717	43508613	115630050	5970	9586											
HECW1	23072	broad.mit.edu	37	7	43519258	43519258	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:43519258G>A	ENST00000395891.2	+	17	3754	c.3149G>A	c.(3148-3150)cGa>cAa	p.R1050Q	HECW1_ENST00000453890.1_Missense_Mutation_p.R1016Q	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1		WW 2.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						ATTGACCCCCGAATCCCTCTT	0.517													45	103					0	0	1	0	0	A	43519258	G	A	43519258	3	1	81	1	0	0	0	0	1	0	0	0	7083	1058	37	1	3207	1	HECW1	7	43519258	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	10645	43519258	115619405	5971	9587											
STK17A	9263	broad.mit.edu	37	7	43664326	43664326	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:43664326C>A	ENST00000319357.5	+	7	1309	c.1130C>A	c.(1129-1131)aCt>aAt	p.T377N		NM_004760.2	NP_004751.2	Q9UEE5	ST17A_HUMAN	serine/threonine kinase 17a	377					apoptosis|induction of apoptosis|intracellular protein kinase cascade	nucleus	ATP binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|prostate(1)|skin(2)	11						ACTTCATATACTCTAGGACAA	0.373													69	59					6.07242e-22	7.96643e-22	1	1	0	A	43664326	C	A	43664326	3	1	81	1	0	0	0	0	1	0	0	0	15346	565	20	4	1156	4	STK17A	7	43664326	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	145068	43664326	115474337	5972	9588											
BLVRA	644	broad.mit.edu	37	7	43846772	43846772	+	Missense_Mutation	SNP	C	C	T	rs138692014	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:43846772C>T	ENST00000402924.1	+	9	992	c.829C>T	c.(829-831)Cgc>Tgc	p.R277C	BLVRA_ENST00000265523.4_Missense_Mutation_p.R277C	NM_001253823.1	NP_001240752.1	P53004	BIEA_HUMAN	biliverdin reductase A	277					heme catabolic process	cytosol	biliverdin reductase activity|zinc ion binding			endometrium(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(2)	12					NADH(DB00157)	TGAAAAGAAACGCATCCTGCA	0.438													20	55					0	0	1	0	0	T	43846772	C	T	43846772	3	4	81	1	0	0	0	0	1	0	0	0	1450	536	19	1	855	1	BLVRA	7	43846772	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	182446	43846772	115291891	5973	9589											
URGCP	55665	broad.mit.edu	37	7	43916585	43916585	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:43916585G>T	ENST00000336086.6	-	4	4584	c.2348C>A	c.(2347-2349)tCt>tAt	p.S783Y	URGCP_ENST00000453200.1_Missense_Mutation_p.S826Y|URGCP_ENST00000443736.1_Missense_Mutation_p.S783Y|URGCP_ENST00000402306.3_Missense_Mutation_p.S817Y|URGCP_ENST00000447717.3_Missense_Mutation_p.S783Y|URGCP_ENST00000497914.1_5'UTR|URGCP_ENST00000223341.7_Missense_Mutation_p.S783Y|URGCP-MRPS24_ENST00000603700.1_Intron			Q8TCY9	URGCP_HUMAN	upregulator of cell proliferation	826					cell cycle	centrosome|nucleus	GTP binding			breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|liver(1)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GCCGGGAACAGATACATCATG	0.532													42	30					3.61848e-18	4.68703e-18	1	1	0	T	43916585	G	T	43916585	3	4	81	1	0	0	0	0	1	0	0	0	17086	942	33	4	322	4	URGCP	7	43916585	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	69813	43916585	115222078	5974	9590											
URGCP	55665	broad.mit.edu	37	7	43917062	43917062	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:43917062G>A	ENST00000336086.6	-	4	4107	c.1871C>T	c.(1870-1872)aCg>aTg	p.T624M	URGCP_ENST00000453200.1_Missense_Mutation_p.T667M|URGCP_ENST00000443736.1_Missense_Mutation_p.T624M|URGCP_ENST00000402306.3_Missense_Mutation_p.T658M|URGCP_ENST00000447717.3_Missense_Mutation_p.T624M|URGCP_ENST00000497914.1_5'UTR|URGCP_ENST00000223341.7_Missense_Mutation_p.T624M|URGCP-MRPS24_ENST00000603700.1_Intron			Q8TCY9	URGCP_HUMAN	upregulator of cell proliferation	667					cell cycle	centrosome|nucleus	GTP binding			breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|liver(1)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CATGCTCAGCGTGCTCCCATC	0.657													27	14					0	0	1	0	0	A	43917062	G	A	43917062	3	1	81	1	0	0	0	0	1	0	0	0	17086	1145	40	1	799	1	URGCP	7	43917062	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	477	43917062	115221601	5975	9591											
URGCP	55665	broad.mit.edu	37	7	43917891	43917891	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:43917891G>A	ENST00000336086.6	-	4	3278	c.1042C>T	c.(1042-1044)Cgt>Tgt	p.R348C	URGCP_ENST00000453200.1_Missense_Mutation_p.R391C|URGCP_ENST00000443736.1_Missense_Mutation_p.R348C|URGCP_ENST00000402306.3_Missense_Mutation_p.R382C|URGCP_ENST00000447717.3_Missense_Mutation_p.R348C|URGCP_ENST00000497914.1_5'UTR|URGCP_ENST00000223341.7_Missense_Mutation_p.R348C|URGCP-MRPS24_ENST00000603700.1_Intron			Q8TCY9	URGCP_HUMAN	upregulator of cell proliferation	391					cell cycle	centrosome|nucleus	GTP binding			breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|liver(1)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CGCTTCCCACGGTAGGGACTC	0.413													40	150					0	0	1	0	0	A	43917891	G	A	43917891	3	1	81	1	0	0	0	0	1	0	0	0	17086	1116	39	1	1628	1	URGCP	7	43917891	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	829	43917891	115220772	5976	9592											
UBE2D4	51619	broad.mit.edu	37	7	43982631	43982631	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:43982631G>T	ENST00000222402.3	+	4	287		c.e4+1		UBE2D4_ENST00000394798.4_Splice_Site|POLR2J4_ENST00000427076.1_RNA|UBE2D4_ENST00000446008.1_Splice_Site	NM_015983.3	NP_057067.1	Q9Y2X8	UB2D4_HUMAN	ubiquitin-conjugating enzyme E2D 4 (putative)						protein K11-linked ubiquitination|protein K27-linked ubiquitination|protein K29-linked ubiquitination|protein K48-linked ubiquitination|protein K6-linked ubiquitination|protein K63-linked ubiquitination		ATP binding|protein binding|ubiquitin-protein ligase activity			endometrium(1)|large_intestine(2)|lung(1)|pancreas(1)	5						GCCCCCAAAGGTGAGGTCCCT	0.498													54	51					6.60958e-23	8.69252e-23	1	1	0	T	43982631	G	T	43982631	5	4	81	1	0	0	0	0	0	0	1	0	16912	1275	44	5	213	5	UBE2D4	7	43982631	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	64740	43982631	115156032	5977	9593											
SPDYE1	285955	broad.mit.edu	37	7	44044819	44044819	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:44044819C>T	ENST00000258704.3	+	4	762	c.625C>T	c.(625-627)Ctg>Ttg	p.L209L	AC004951.6_ENST00000447643.1_lincRNA|POLR2J4_ENST00000427076.1_RNA|RP5-1165K10.2_ENST00000454572.1_RNA	NM_001099435.2|NM_175064.2	NP_001092905.2|NP_778234.2	Q8NFV5	SPDE1_HUMAN	speedy/RINGO cell cycle regulator family member E1	209										endometrium(1)|kidney(4)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	11						TCATTTCTTCCTGGCTCTGTG	0.507													80	212					0	0	1	0	0	T	44044819	C	T	44044819	2	4	81	1	0	0	0	0	0	0	0	1	15085	680	24	2		2	SPDYE1	7	44044819	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	62188	44044819	115093844	5978	9594											
DBNL	28988	broad.mit.edu	37	7	44096431	44096431	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:44096431G>A	ENST00000494774.1	+	5	424	c.403G>A	c.(403-405)Gct>Act	p.A135T	DBNL_ENST00000452943.1_Missense_Mutation_p.A110T|DBNL_ENST00000497184.1_3'UTR|DBNL_ENST00000468694.1_Missense_Mutation_p.A135T|DBNL_ENST00000490734.2_Missense_Mutation_p.A40T|DBNL_ENST00000440166.1_Missense_Mutation_p.A32T|DBNL_ENST00000456905.1_Intron|DBNL_ENST00000448521.1_Missense_Mutation_p.A135T	NM_014063.6	NP_054782.2	Q9UJU6	DBNL_HUMAN	drebrin-like	135					activation of JUN kinase activity|cellular component disassembly involved in apoptosis|endocytosis|Rac protein signal transduction	cell cortex|cytoskeleton|cytosol|lamellipodium	actin binding|enzyme activator activity|identical protein binding			breast(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|stomach(1)	12						GGTGGCCAAGGCTTCAGGTGC	0.622													30	62					0	0	1	0	0	A	44096431	G	A	44096431	3	1	81	1	0	0	0	0	1	0	0	0	4279	1203	42	2	421	2	DBNL	7	44096431	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	51612	44096431	115042232	5979	9595											
POLM	27434	broad.mit.edu	37	7	44113479	44113479	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:44113479G>A	ENST00000242248.5	-	9	1318	c.1217C>T	c.(1216-1218)aCg>aTg	p.T406M	POLM_ENST00000395831.3_Missense_Mutation_p.T326M|POLM_ENST00000335195.6_Missense_Mutation_p.T369M	NM_013284.2	NP_037416.1	Q9NP87	DPOLM_HUMAN	polymerase (DNA directed), mu	406					DNA recombination|DNA repair	nucleus	DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(3)|skin(2)	22						GCAGGGCCTCGTGGATCCCCC	0.607								DNA polymerases (catalytic subunits)					5	76					0	0	1	0	0	A	44113479	G	A	44113479	3	1	81	1	0	0	0	0	1	0	0	0	12254	1145	40	1	279	1	POLM	7	44113479	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	17048	44113479	115025184	5980	9596											
POLM	27434	broad.mit.edu	37	7	44113534	44113534	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:44113534T>C	ENST00000242248.5	-	9	1263	c.1162A>G	c.(1162-1164)Agt>Ggt	p.S388G	POLM_ENST00000395831.3_Missense_Mutation_p.S308G|POLM_ENST00000335195.6_Missense_Mutation_p.S351G	NM_013284.2	NP_037416.1	Q9NP87	DPOLM_HUMAN	polymerase (DNA directed), mu	388					DNA recombination|DNA repair	nucleus	DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(3)|skin(2)	22						ATGCAGAAACTTCTCTCAAAA	0.612								DNA polymerases (catalytic subunits)					24	59					0	0	1	0	0	C	44113534	T	C	44113534	3	2	81	1	0	0	0	0	1	0	0	0	12254	1609	56	3	334	3	POLM	7	44113534	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	55	44113534	115025129	5981	9597											
POLM	27434	broad.mit.edu	37	7	44113546	44113546	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:44113546C>T	ENST00000242248.5	-	9	1251	c.1150G>A	c.(1150-1152)Gct>Act	p.A384T	POLM_ENST00000395831.3_Missense_Mutation_p.A304T|POLM_ENST00000335195.6_Missense_Mutation_p.A347T	NM_013284.2	NP_037416.1	Q9NP87	DPOLM_HUMAN	polymerase (DNA directed), mu	384					DNA recombination|DNA repair	nucleus	DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(3)|skin(2)	22						CTCTCAAAAGCGTCCATGTGG	0.632								DNA polymerases (catalytic subunits)					41	34					0	0	1	0	0	T	44113546	C	T	44113546	3	4	81	1	0	0	0	0	1	0	0	0	12254	768	27	1	346	1	POLM	7	44113546	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	12	44113546	115025117	5982	9598											
POLD2	5425	broad.mit.edu	37	7	44154395	44154395	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:44154395G>T	ENST00000406581.2	-	12	2048	c.1399C>A	c.(1399-1401)Ctg>Atg	p.L467M	POLD2_ENST00000452185.1_Missense_Mutation_p.L467M|POLD2_ENST00000223361.3_Missense_Mutation_p.L453M	NM_001256879.1	NP_001243808.1	P49005	DPOD2_HUMAN	polymerase (DNA directed), delta 2, accessory subunit	467					base-excision repair|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	DNA binding|DNA-directed DNA polymerase activity|protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	12						CAGGGGCCCAGCCCCAGGCCT	0.602													7	31					5.18039e-06	5.88187e-06	1	1	0	T	44154395	G	T	44154395	3	4	81	1	0	0	0	0	1	0	0	0	12239	962	34	4	14	4	POLD2	7	44154395	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	40849	44154395	114984268	5983	9599											
POLD2	5425	broad.mit.edu	37	7	44156081	44156081	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:44156081G>A	ENST00000406581.2	-	8	1458	c.809C>T	c.(808-810)gCa>gTa	p.A270V	POLD2_ENST00000452185.1_Missense_Mutation_p.A270V|POLD2_ENST00000223361.3_Missense_Mutation_p.A270V	NM_001256879.1	NP_001243808.1	P49005	DPOD2_HUMAN	polymerase (DNA directed), delta 2, accessory subunit	270					base-excision repair|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	DNA binding|DNA-directed DNA polymerase activity|protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	12						CACGCTGGCTGCCTGGGTTTT	0.592													7	9					0	0	1	0	0	A	44156081	G	A	44156081	3	1	81	1	0	0	0	0	1	0	0	0	12239	1319	46	2	620	2	POLD2	7	44156081	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1686	44156081	114982582	5984	9600											
GCK	2645	broad.mit.edu	37	7	44189415	44189415	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:44189415G>A	ENST00000403799.3	-	6	1092	c.623C>T	c.(622-624)gCc>gTc	p.A208V	GCK_ENST00000395796.3_Missense_Mutation_p.A207V|GCK_ENST00000437084.1_Missense_Mutation_p.A191V|GCK_ENST00000345378.2_Missense_Mutation_p.A209V	NM_000162.3	NP_000153.1	P35557	HXK4_HUMAN	glucokinase (hexokinase 4)	208					cellular response to insulin stimulus|cellular response to leptin stimulus|detection of glucose|endocrine pancreas development|glucose homeostasis|glucose transport|glycolysis|negative regulation of gluconeogenesis|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|regulation of glucose transport|regulation of glycolysis|transmembrane transport	cytosol|nucleoplasm	ATP binding|glucokinase activity|glucose binding|protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	37						GATCATCGTGGCCACCGTGTC	0.567													20	74					0	0	1	0	0	A	44189415	G	A	44189415	3	1	81	1	0	0	0	0	1	0	0	0	6333	1203	42	2	794	2	GCK	7	44189415	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	33334	44189415	114949248	5985	9601											
NPC1L1	29881	broad.mit.edu	37	7	44575999	44575999	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:44575999C>A	ENST00000289547.4	-	4	1765	c.1710G>T	c.(1708-1710)ctG>ctT	p.L570L	NPC1L1_ENST00000381160.3_Silent_p.L570L|NPC1L1_ENST00000546276.1_Silent_p.L570L|NPC1L1_ENST00000423141.1_Silent_p.L570L	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	570					cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	ACGTCATGATCAGGGCCTCTG	0.587													4	72					0.014758	0.0152304	1	1	0	A	44575999	C	A	44575999	2	1	81	1	0	0	0	0	0	0	0	1	10618	813	29	5		5	NPC1L1	7	44575999	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	386584	44575999	114562664	5986	9602											
NPC1L1	29881	broad.mit.edu	37	7	44579468	44579468	+	Silent	SNP	G	G	A	rs114482489	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:44579468G>A	ENST00000289547.4	-	2	583	c.528C>T	c.(526-528)cgC>cgT	p.R176R	NPC1L1_ENST00000381160.3_Silent_p.R176R|NPC1L1_ENST00000546276.1_Silent_p.R176R|NPC1L1_ENST00000423141.1_Silent_p.R176R	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	176					cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	CTGCAGGGACGCGCACACGGC	0.622													18	45					0	0	1	0	0	A	44579468	G	A	44579468	2	1	81	1	0	0	0	0	0	0	0	1	10618	1074	38	1		1	NPC1L1	7	44579468	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	3469	44579468	114559195	5987	9603											
DDX56	54606	broad.mit.edu	37	7	44612025	44612025	+	Missense_Mutation	SNP	C	C	T	rs140918826		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:44612025C>T	ENST00000258772.5	-	5	672	c.566G>A	c.(565-567)cGg>cAg	p.R189Q	DDX56_ENST00000431640.1_Missense_Mutation_p.R189Q|DDX56_ENST00000485367.1_5'UTR	NM_001257189.1|NM_019082.3	NP_001244118.1|NP_061955.1	Q9NY93	DDX56_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 56	189	Helicase ATP-binding.				rRNA processing	nucleolus	ATP binding|ATP-dependent RNA helicase activity|identical protein binding|RNA binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(5)|upper_aerodigestive_tract(1)	16						CTGGTAAATCCGGGGCAAGTG	0.493													18	40					0	0	1	0	0	T	44612025	C	T	44612025	3	4	81	1	0	0	0	0	1	0	0	0	4397	652	23	1	1117	1	DDX56	7	44612025	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	32557	44612025	114526638	5988	9604											
OGDH	4967	broad.mit.edu	37	7	44737282	44737282	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:44737282G>A	ENST00000222673.5	+	17	2301	c.2259G>A	c.(2257-2259)acG>acA	p.T753T	OGDH_ENST00000449767.1_Silent_p.T749T|OGDH_ENST00000439616.2_Silent_p.T603T|OGDH_ENST00000444676.1_Silent_p.T768T|OGDH_ENST00000543843.1_Silent_p.T704T|OGDH_ENST00000447398.1_Silent_p.T764T	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN	oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	753					glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					NADH(DB00157)	TCCACAACACGGCCCAGTGTA	0.582													8	94					0	0	1	0	0	A	44737282	G	A	44737282	2	1	81	1	0	0	0	0	0	0	0	1	10887	1103	39	1		1	OGDH	7	44737282	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	125257	44737282	114401381	5989	9605											
OGDH	4967	broad.mit.edu	37	7	44737297	44737297	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:44737297C>T	ENST00000222673.5	+	17	2316	c.2274C>T	c.(2272-2274)atC>atT	p.I758I	OGDH_ENST00000449767.1_Silent_p.I754I|OGDH_ENST00000439616.2_Silent_p.I608I|OGDH_ENST00000444676.1_Silent_p.I773I|OGDH_ENST00000543843.1_Silent_p.I709I|OGDH_ENST00000447398.1_Silent_p.I769I	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN	oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	758					glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					NADH(DB00157)	AGTGTATCATCGACCAGTTCA	0.592													29	69					0	0	1	0	0	T	44737297	C	T	44737297	2	4	81	1	0	0	0	0	0	0	0	1	10887	874	31	1		1	OGDH	7	44737297	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	15	44737297	114401366	5990	9606											
OGDH	4967	broad.mit.edu	37	7	44739829	44739829	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:44739829C>T	ENST00000222673.5	+	19	2562	c.2520C>T	c.(2518-2520)caC>caT	p.H840H	OGDH_ENST00000449767.1_Silent_p.H836H|OGDH_ENST00000439616.2_Silent_p.H690H|OGDH_ENST00000444676.1_Silent_p.H855H|OGDH_ENST00000543843.1_Silent_p.H791H|OGDH_ENST00000447398.1_Silent_p.H851H	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN	oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	840					glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					NADH(DB00157)	ACTTCTTCCACGTGCTACGAC	0.567													8	99					0	0	1	0	0	T	44739829	C	T	44739829	2	4	81	1	0	0	0	0	0	0	0	1	10887	535	19	1		1	OGDH	7	44739829	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2532	44739829	114398834	5991	9607											
OGDH	4967	broad.mit.edu	37	7	44746903	44746903	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:44746903C>T	ENST00000222673.5	+	21	2754	c.2712C>T	c.(2710-2712)tgC>tgT	p.C904C	OGDH_ENST00000449767.1_Silent_p.C900C|OGDH_ENST00000439616.2_Silent_p.C754C|OGDH_ENST00000444676.1_Silent_p.C919C|OGDH_ENST00000543843.1_Silent_p.C855C|OGDH_ENST00000447398.1_Silent_p.C915C	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN	oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	904					glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					NADH(DB00157)	TTCTCTTCTGCACCGGCAAAG	0.567													29	30					0	0	1	0	0	T	44746903	C	T	44746903	2	4	81	1	0	0	0	0	0	0	0	1	10887	718	25	2		2	OGDH	7	44746903	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	7074	44746903	114391760	5992	9608											
OGDH	4967	broad.mit.edu	37	7	44747186	44747186	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:44747186G>A	ENST00000222673.5	+	22	2844	c.2802G>A	c.(2800-2802)tcG>tcA	p.S934S	OGDH_ENST00000449767.1_Silent_p.S930S|OGDH_ENST00000439616.2_Silent_p.S784S|OGDH_ENST00000444676.1_Silent_p.S949S|OGDH_ENST00000543843.1_Silent_p.S885S|OGDH_ENST00000447398.1_Silent_p.S945S	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN	oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	934					glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					NADH(DB00157)	CCTAGCTGTCGCCATTCCCCT	0.552													76	64					0	0	1	0	0	A	44747186	G	A	44747186	2	1	81	1	0	0	0	0	0	0	0	1	10887	1074	38	1		1	OGDH	7	44747186	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	283	44747186	114391477	5993	9609											
ZMIZ2	83637	broad.mit.edu	37	7	44802511	44802511	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:44802511G>A	ENST00000309315.4	+	12	1751	c.1628G>A	c.(1627-1629)cGc>cAc	p.R543H	ZMIZ2_ENST00000433667.1_Missense_Mutation_p.R511H|ZMIZ2_ENST00000441627.1_Missense_Mutation_p.R543H|ZMIZ2_ENST00000265346.7_Missense_Mutation_p.R517H|ZMIZ2_ENST00000413916.1_Missense_Mutation_p.R485H	NM_031449.3	NP_113637.3	Q8NF64	ZMIZ2_HUMAN	zinc finger, MIZ-type containing 2	543					positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear replication fork	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding			breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						CTAGTGCACCGCCCATCCGTC	0.637													70	268					0	0	1	0	0	A	44802511	G	A	44802511	3	1	81	1	0	0	0	0	1	0	0	0	17755	1087	38	1	1670	1	ZMIZ2	7	44802511	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	55325	44802511	114336152	5994	9610											
ZMIZ2	83637	broad.mit.edu	37	7	44802966	44802966	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:44802966G>A	ENST00000309315.4	+	13	1937	c.1814G>A	c.(1813-1815)cGc>cAc	p.R605H	ZMIZ2_ENST00000433667.1_Missense_Mutation_p.R573H|ZMIZ2_ENST00000441627.1_Missense_Mutation_p.R605H|ZMIZ2_ENST00000265346.7_Missense_Mutation_p.R579H|ZMIZ2_ENST00000413916.1_Missense_Mutation_p.R547H	NM_031449.3	NP_113637.3	Q8NF64	ZMIZ2_HUMAN	zinc finger, MIZ-type containing 2	605					positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear replication fork	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding			breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						ATCACCTTCCGCAGGATCCAG	0.582													9	156					0	0	1	0	0	A	44802966	G	A	44802966	3	1	81	1	0	0	0	0	1	0	0	0	17755	1087	38	1	1860	1	ZMIZ2	7	44802966	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	455	44802966	114335697	5995	9611											
MYO1G	64005	broad.mit.edu	37	7	45005867	45005867	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:45005867G>T	ENST00000258787.7	-	16	2098	c.1962C>A	c.(1960-1962)acC>acA	p.T654T		NM_033054.2	NP_149043.2	B0I1T2	MYO1G_HUMAN	myosin IG	654	Myosin head-like.					myosin complex|plasma membrane	actin binding|ATP binding|calmodulin binding|motor activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|skin(4)	28						TGTATTCACAGGTCATCTTGT	0.657													5	23					5.9392e-07	6.87481e-07	1	1	0	T	45005867	G	T	45005867	2	4	81	1	0	0	0	0	0	0	0	1	10122	987	35	4		4	MYO1G	7	45005867	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	202901	45005867	114132796	5996	9612											
ADCY1	107	broad.mit.edu	37	7	45719377	45719377	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:45719377C>T	ENST00000297323.7	+	11	1990	c.1968C>T	c.(1966-1968)caC>caT	p.H656H		NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	656					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)	TGTACCTGCACATCACCCGGG	0.542													45	36					0	0	1	0	0	T	45719377	C	T	45719377	2	4	81	1	0	0	0	0	0	0	0	1	291	477	17	2		2	ADCY1	7	45719377	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	713510	45719377	113419286	5997	9613											
ADCY1	107	broad.mit.edu	37	7	45724577	45724577	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:45724577G>A	ENST00000297323.7	+	12	2005		c.e12-1			NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)						activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)	TTCTTATTCAGTGTTTTCCAG	0.413													13	130					0	0	1	0	0	A	45724577	G	A	45724577	5	1	81	1	0	0	0	0	0	0	1	0	291	1043	36	2	2029	2	ADCY1	7	45724577	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	5200	45724577	113414086	5998	9614											
TNS3	64759	broad.mit.edu	37	7	47342575	47342575	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:47342575C>T	ENST00000398879.1	-	22	3796	c.3430G>A	c.(3430-3432)Gct>Act	p.A1144T	TNS3_ENST00000355730.3_Missense_Mutation_p.A904T|TNS3_ENST00000311160.9_Missense_Mutation_p.A1144T			Q68CZ2	TENS3_HUMAN	tensin 3	1144						focal adhesion	protein binding			NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						GCTTCTGAAGCCTTGGAAAAG	0.587													34	110					0	0	1	0	0	T	47342575	C	T	47342575	3	4	81	1	0	0	0	0	1	0	0	0	16404	739	26	2	947	2	TNS3	7	47342575	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1617998	47342575	111796088	5999	9615											
TNS3	64759	broad.mit.edu	37	7	47384355	47384355	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:47384355C>T	ENST00000398879.1	-	20	3014	c.2648G>A	c.(2647-2649)cGt>cAt	p.R883H	TNS3_ENST00000355730.3_Missense_Mutation_p.R643H|TNS3_ENST00000311160.9_Missense_Mutation_p.R883H			Q68CZ2	TENS3_HUMAN	tensin 3	883						focal adhesion	protein binding			NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						TTTCTTACCACGTCCTCCTTT	0.582													36	36					0	0	1	0	0	T	47384355	C	T	47384355	3	4	81	1	0	0	0	0	1	0	0	0	16404	536	19	1	1737	1	TNS3	7	47384355	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	41780	47384355	111754308	6000	9616											
PKD1L1	168507	broad.mit.edu	37	7	47847887	47847887	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:47847887G>A	ENST00000289672.2	-	52	7835	c.7785C>T	c.(7783-7785)tgC>tgT	p.C2595C	C7orf69_ENST00000258776.4_Intron|C7orf69_ENST00000418326.2_Intron	NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	2595					cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						TAAATGCTCGGCAAAGTCCTC	0.517													5	58					0	0	1	0	0	A	47847887	G	A	47847887	2	1	81	1	0	0	0	0	0	0	0	1	12012	1195	42	2		2	PKD1L1	7	47847887	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	463532	47847887	111290776	6001	9617											
PKD1L1	168507	broad.mit.edu	37	7	47851554	47851554	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:47851554G>T	ENST00000289672.2	-	50	7492	c.7442C>A	c.(7441-7443)cCt>cAt	p.P2481H	C7orf69_ENST00000258776.4_Intron|C7orf69_ENST00000418326.2_Intron	NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	2481					cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						TTGGGTTGGAGGGTTATAGAG	0.587													9	2					1.58986e-06	1.82794e-06	1	1	0	T	47851554	G	T	47851554	3	4	81	1	0	0	0	0	1	0	0	0	12012	1000	35	4	1139	4	PKD1L1	7	47851554	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	3667	47851554	111287109	6002	9618											
PKD1L1	168507	broad.mit.edu	37	7	47869717	47869717	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:47869717C>T	ENST00000289672.2	-	43	6529	c.6479G>A	c.(6478-6480)gGc>gAc	p.G2160D		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	2160					cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						TTGCTCCTGGCCAAACCTGCC	0.582													12	27					0	0	1	0	0	T	47869717	C	T	47869717	3	4	81	1	0	0	0	0	1	0	0	0	12012	739	26	2	2130	2	PKD1L1	7	47869717	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	18163	47869717	111268946	6003	9619											
PKD1L1	168507	broad.mit.edu	37	7	47894786	47894786	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:47894786G>A	ENST00000289672.2	-	29	4718	c.4668C>T	c.(4666-4668)ccC>ccT	p.P1556P		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	1556	REJ.				cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						CGACCATCACGGGTTTCCTTA	0.488													37	37					0	0	1	0	0	A	47894786	G	A	47894786	2	1	81	1	0	0	0	0	0	0	0	1	12012	1103	39	1		1	PKD1L1	7	47894786	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	25069	47894786	111243877	6004	9620											
PKD1L1	168507	broad.mit.edu	37	7	47925295	47925295	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:47925295G>T	ENST00000289672.2	-	18	3244	c.3194C>A	c.(3193-3195)cCt>cAt	p.P1065H		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	1065	REJ.				cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						AGAGAGGTGAGGGTCAGGGCT	0.557													8	169					1.06961e-07	1.25755e-07	1	1	0	T	47925295	G	T	47925295	3	4	81	1	0	0	0	0	1	0	0	0	12012	1000	35	4	5515	4	PKD1L1	7	47925295	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	30509	47925295	111213368	6005	9621											
HUS1	3364	broad.mit.edu	37	7	48016412	48016412	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:48016412C>T	ENST00000258774.5	-	4	403	c.380G>A	c.(379-381)cGc>cAc	p.R127H	HUS1_ENST00000432325.1_Missense_Mutation_p.R106H	NM_004507.3	NP_004498.1	O60921	HUS1_HUMAN	HUS1 checkpoint homolog (S. pombe)	127					DNA damage checkpoint|DNA replication	Golgi apparatus|nucleolus|nucleoplasm	protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(3)|ovary(2)|prostate(1)	13		Breast(660;0.00139)				GGTCACAATGCGGCTACTGCT	0.418								Direct reversal of damage;Other conserved DNA damage response genes					9	148					0	0	1	0	0	T	48016412	C	T	48016412	3	4	81	1	0	0	0	0	1	0	0	0	7503	768	27	1	482	1	HUS1	7	48016412	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	91117	48016412	111122251	6006	9622											
SUN3	256979	broad.mit.edu	37	7	48068486	48068486	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:48068486C>T	ENST00000297325.4	-	1	209	c.50G>A	c.(49-51)tGc>tAc	p.C17Y	SUN3_ENST00000453192.2_5'UTR|SUN3_ENST00000412142.1_5'UTR|SUN3_ENST00000395572.2_Missense_Mutation_p.C17Y	NM_001030019.1	NP_001025190.1	Q8TAQ9	SUN3_HUMAN	Sad1 and UNC84 domain containing 3	17						integral to membrane				central_nervous_system(1)|endometrium(3)|large_intestine(8)|liver(1)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GTCTTCAGAGCAACGTCTAAA	0.483													5	101					0	0	1	0	0	T	48068486	C	T	48068486	3	4	81	1	0	0	0	0	1	0	0	0	15449	710	25	2	1063	2	SUN3	7	48068486	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	52074	48068486	111070177	6007	9623											
UPP1	7378	broad.mit.edu	37	7	48139382	48139382	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:48139382A>C	ENST00000331803.4	+	5	783	c.160A>C	c.(160-162)Aag>Cag	p.K54Q	UPP1_ENST00000341253.4_Missense_Mutation_p.K54Q|UPP1_ENST00000482015.1_Intron|UPP1_ENST00000395564.4_Missense_Mutation_p.K54Q|UPP1_ENST00000429491.2_Intron			Q16831	UPP1_HUMAN	uridine phosphorylase 1	54					nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage	cytosol	uridine phosphorylase activity			breast(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	18						TGGAGATGTGAAGGTAAGAGG	0.403													15	233					0	0	1	0	0	C	48139382	A	C	48139382	3	2	81	1	0	0	0	0	1	0	0	0	17072	247	9	5	166	5	UPP1	7	48139382	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	70896	48139382	110999281	6008	9624											
ABCA13	154664	broad.mit.edu	37	7	48280594	48280594	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:48280594C>T	ENST00000435803.1	+	10	1217	c.1193C>T	c.(1192-1194)aCt>aTt	p.T398I		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	398					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						GCTCTGCACACTGCACTGCTC	0.473													31	115					0	0	1	0	0	T	48280594	C	T	48280594	3	4	81	1	0	0	0	0	1	0	0	0	31	565	20	2	1060	2	ABCA13	7	48280594	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	141212	48280594	110858069	6009	9625											
ABCA13	154664	broad.mit.edu	37	7	48312581	48312581	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:48312581C>T	ENST00000435803.1	+	17	3342	c.3318C>T	c.(3316-3318)caC>caT	p.H1106H		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	1106					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						ACAATAAACACATTTCTTCCG	0.318													21	36					0	0	1	0	0	T	48312581	C	T	48312581	2	4	81	1	0	0	0	0	0	0	0	1	31	477	17	2		2	ABCA13	7	48312581	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	31987	48312581	110826082	6010	9626											
ABCA13	154664	broad.mit.edu	37	7	48313911	48313911	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:48313911C>T	ENST00000435803.1	+	17	4672	c.4648C>T	c.(4648-4650)Ctg>Ttg	p.L1550L		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	1550					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TTTAATAACACTGGGGAAGGA	0.299													53	39					0	0	1	0	0	T	48313911	C	T	48313911	2	4	81	1	0	0	0	0	0	0	0	1	31	564	20	2		2	ABCA13	7	48313911	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1330	48313911	110824752	6011	9627											
ABCA13	154664	broad.mit.edu	37	7	48314705	48314705	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:48314705G>T	ENST00000435803.1	+	17	5466	c.5442G>T	c.(5440-5442)gaG>gaT	p.E1814D		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	1814					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TTATTTCAGAGGCTTTAGCTT	0.373													4	28					0.00909568	0.00944708	1	1	0	T	48314705	G	T	48314705	3	4	81	1	0	0	0	0	1	0	0	0	31	991	35	4	5337	4	ABCA13	7	48314705	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	794	48314705	110823958	6012	9628											
ABCA13	154664	broad.mit.edu	37	7	48315032	48315032	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:48315032G>T	ENST00000435803.1	+	17	5793	c.5769G>T	c.(5767-5769)aaG>aaT	p.K1923N		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	1923					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TTTGGCATAAGATATTACCGT	0.378													72	147					1.34917e-44	1.8137e-44	1	1	0	T	48315032	G	T	48315032	3	4	81	1	0	0	0	0	1	0	0	0	31	933	33	4	5664	4	ABCA13	7	48315032	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	327	48315032	110823631	6013	9629											
ABCA13	154664	broad.mit.edu	37	7	48319206	48319206	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:48319206G>T	ENST00000435803.1	+	18	8439	c.8415G>T	c.(8413-8415)caG>caT	p.Q2805H		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	2805					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						CTTTGAGTCAGAATATAACTC	0.328													5	104					0.217242	0.218703	1	1	0	T	48319206	G	T	48319206	3	4	81	1	0	0	0	0	1	0	0	0	31	933	33	4	8314	4	ABCA13	7	48319206	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	4174	48319206	110819457	6014	9630											
ABCA13	154664	broad.mit.edu	37	7	48634360	48634360	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:48634360A>G	ENST00000435803.1	+	58	14719	c.14695A>G	c.(14695-14697)Ata>Gta	p.I4899V	ABCA13_ENST00000544596.1_Missense_Mutation_p.I629V	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	4899	ABC transporter 2.				transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						GTGGCAAACAATAATGAAGGA	0.483													5	145					0	0	1	0	0	G	48634360	A	G	48634360	3	3	81	1	0	0	0	0	1	0	0	0	31	101	4	3	14754	3	ABCA13	7	48634360	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	315154	48634360	110504303	6015	9631											
ABCA13	154664	broad.mit.edu	37	7	48684218	48684218	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:48684218G>T	ENST00000435803.1	+	61	14973	c.14949G>T	c.(14947-14949)caG>caT	p.Q4983H	ABCA13_ENST00000544596.1_Missense_Mutation_p.Q713H	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	4983					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TTTAGGGACAGCACCTGAATT	0.279													15	10					2.31682e-05	2.58805e-05	1	1	0	T	48684218	G	T	48684218	3	4	81	1	0	0	0	0	1	0	0	0	31	962	34	4	15020	4	ABCA13	7	48684218	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	49858	48684218	110454445	6016	9632											
FIGNL1	63979	broad.mit.edu	37	7	50513423	50513423	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:50513423T>G	ENST00000419119.1	-	2	3116	c.1563A>C	c.(1561-1563)aaA>aaC	p.K521N	FIGNL1_ENST00000356889.4_Missense_Mutation_p.K521N|FIGNL1_ENST00000433017.1_Missense_Mutation_p.K521N|FIGNL1_ENST00000395556.2_Missense_Mutation_p.K521N			Q6PIW4	FIGL1_HUMAN	fidgetin-like 1	521					ATP metabolic process|negative regulation of apoptosis|osteoblast differentiation|osteoblast proliferation|regulation of cell cycle	cytoplasm|nucleus	ATP binding|magnesium ion binding|nucleoside-triphosphatase activity			endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	29	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;3.73e-08)|all_hematologic(4;7.51e-06)				AAAATTCTGTTTTTATCCTTC	0.403													101	60					0	0	1	0	0	G	50513423	T	G	50513423	3	3	81	1	0	0	0	0	1	0	0	0	5925	1838	64	5	465	5	FIGNL1	7	50513423	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	1829205	50513423	108625240	6017	9633											
DDC	1644	broad.mit.edu	37	7	50530956	50530956	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:50530956G>A	ENST00000444124.2	-	14	1616	c.1416C>T	c.(1414-1416)gcC>gcT	p.A472A	DDC_ENST00000426377.1_Silent_p.A394A|DDC_ENST00000357936.5_Silent_p.A472A|DDC_ENST00000431062.1_Silent_p.A379A	NM_001082971.1	NP_001076440	P20711	DDC_HUMAN	dopa decarboxylase (aromatic L-amino acid decarboxylase)	472					cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion	cytosol	aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1)	40	Glioma(55;0.08)|all_neural(89;0.245)				Amantadine(DB00915)|Carbidopa(DB00190)|Flupenthixol(DB00875)|L-Tryptophan(DB00150)|Levodopa(DB01235)|Pimozide(DB01100)|Pyridoxal Phosphate(DB00114)|Remoxipride(DB00409)	GCAGCACGTCGGCCGCCAGCT	0.597													4	16					0	0	1	0	0	A	50530956	G	A	50530956	2	1	81	1	0	0	0	0	0	0	0	1	4348	1103	39	1		1	DDC	7	50530956	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	17533	50530956	108607707	6018	9634											
DDC	1644	broad.mit.edu	37	7	50530983	50530983	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:50530983G>T	ENST00000444124.2	-	14	1589	c.1389C>A	c.(1387-1389)gcC>gcA	p.A463A	DDC_ENST00000426377.1_Silent_p.A385A|DDC_ENST00000357936.5_Silent_p.A463A|DDC_ENST00000431062.1_Silent_p.A370A	NM_001082971.1	NP_001076440	P20711	DDC_HUMAN	dopa decarboxylase (aromatic L-amino acid decarboxylase)	463					cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion	cytosol	aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1)	40	Glioma(55;0.08)|all_neural(89;0.245)				Amantadine(DB00915)|Carbidopa(DB00190)|Flupenthixol(DB00875)|L-Tryptophan(DB00150)|Levodopa(DB01235)|Pimozide(DB01100)|Pyridoxal Phosphate(DB00114)|Remoxipride(DB00409)	TGTGTTCCCAGGCCCGCTGCA	0.577													13	12					1.49906e-05	1.6816e-05	1	1	0	T	50530983	G	T	50530983	2	4	81	1	0	0	0	0	0	0	0	1	4348	987	35	4		4	DDC	7	50530983	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	27	50530983	108607680	6019	9635											
COBL	23242	broad.mit.edu	37	7	51095461	51095461	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:51095461G>T	ENST00000395542.2	-	12	3762	c.3578C>A	c.(3577-3579)tCt>tAt	p.S1193Y	COBL_ENST00000265136.7_Missense_Mutation_p.S1111Y			O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	1111										NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					CATCAGGGCAGAGTGCAGGGA	0.542													6	128					5.68852e-11	7.00816e-11	1	1	0	T	51095461	G	T	51095461	3	4	81	1	0	0	0	0	1	0	0	0	3676	942	33	4	469	4	COBL	7	51095461	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	564478	51095461	108043202	6020	9636											
COBL	23242	broad.mit.edu	37	7	51095935	51095935	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:51095935T>C	ENST00000395542.2	-	12	3288	c.3104A>G	c.(3103-3105)gAg>gGg	p.E1035G	COBL_ENST00000265136.7_Missense_Mutation_p.E953G			O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	953										NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					GCCAATGACCTCCCCCCTAGG	0.567													11	50					0	0	1	0	0	C	51095935	T	C	51095935	3	2	81	1	0	0	0	0	1	0	0	0	3676	1551	54	3	943	3	COBL	7	51095935	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	474	51095935	108042728	6021	9637											
COBL	23242	broad.mit.edu	37	7	51096641	51096641	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:51096641G>A	ENST00000395542.2	-	12	2582	c.2398C>T	c.(2398-2400)Cga>Tga	p.R800*	COBL_ENST00000265136.7_Nonsense_Mutation_p.R718*			O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	718								p.R718*(1)		NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					TCGTAACATCGCATCTCTGAC	0.507													26	43					0	0	1	0	0	A	51096641	G	A	51096641	4	1	81	1	0	0	0	0	0	1	0	0	3676	1095	38	1	1649	1	COBL	7	51096641	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	706	51096641	108042022	6022	9638											
COBL	23242	broad.mit.edu	37	7	51152918	51152918	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:51152918A>G	ENST00000395542.2	-	8	1300	c.1116T>C	c.(1114-1116)agT>agC	p.S372S	COBL_ENST00000265136.7_Silent_p.S347S|COBL_ENST00000395540.2_Silent_p.S347S|COBL_ENST00000441453.1_Silent_p.S347S			O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	311										NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					GGATCAGGGGACTCGGTGGTG	0.572													14	55					0	0	1	0	0	G	51152918	A	G	51152918	2	3	81	1	0	0	0	0	0	0	0	1	3676	272	10	3		3	COBL	7	51152918	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	56277	51152918	107985745	6023	9639											
POM121L12	285877	broad.mit.edu	37	7	53103889	53103889	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:53103889G>T	ENST00000408890.4	+	1	541	c.525G>T	c.(523-525)cgG>cgT	p.R175R		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	175										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						CCTGCACCCGGGAGACTCTGC	0.716													5	31					0.00116845	0.00124301	1	1	0	T	53103889	G	T	53103889	2	4	81	1	0	0	0	0	0	0	0	1	12289	1219	43	5		5	POM121L12	7	53103889	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1950971	53103889	106034774	6024	9640											
VSTM2A	222008	broad.mit.edu	37	7	54612359	54612359	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:54612359C>T	ENST00000302287.3	+	2	530	c.124C>T	c.(124-126)Cag>Tag	p.Q42*	VSTM2A_ENST00000404951.1_Nonsense_Mutation_p.Q42*|VSTM2A_ENST00000402613.3_Nonsense_Mutation_p.Q42*|VSTM2A_ENST00000402026.2_Nonsense_Mutation_p.Q41*|VSTM2A_ENST00000407838.3_Nonsense_Mutation_p.Q42*			Q8TAG5	VTM2A_HUMAN	V-set and transmembrane domain containing 2A	42	Ig-like V-type.					extracellular region				endometrium(1)|large_intestine(2)|lung(12)|prostate(1)	16			STAD - Stomach adenocarcinoma(5;0.0525)			GACCGAGGGGCAGAATGTGGA	0.592													10	54					0	0	1	0	0	T	54612359	C	T	54612359	4	4	81	1	0	0	0	0	0	1	0	0	17289	711	25	2	130	2	VSTM2A	7	54612359	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1508470	54612359	104526304	6025	9641											
EGFR	1956	broad.mit.edu	37	7	55210006	55210006	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:55210006C>T	ENST00000275493.2	+	2	293	c.116C>T	c.(115-117)aCg>aTg	p.T39M	EGFR_ENST00000344576.2_Missense_Mutation_p.T39M|EGFR_ENST00000455089.1_Missense_Mutation_p.T39M|EGFR_ENST00000342916.3_Missense_Mutation_p.T39M|EGFR_ENST00000420316.2_Missense_Mutation_p.T39M|EGFR_ENST00000442591.1_Missense_Mutation_p.T39M|EGFR_ENST00000454757.2_5'UTR	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	39					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	AACAAGCTCACGCAGTTGGGC	0.408		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			6	146					0	0	1	0	0	T	55210006	C	T	55210006	3	4	81	1	0	0	0	0	1	0	0	0	4993	536	19	1	122	1	EGFR	7	55210006	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	597647	55210006	103928657	6026	9642											
EGFR	1956	broad.mit.edu	37	7	55233088	55233088	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:55233088C>T	ENST00000275493.2	+	15	2015	c.1838C>T	c.(1837-1839)gCc>gTc	p.A613V	EGFR_ENST00000344576.2_Missense_Mutation_p.A613V|EGFR_ENST00000455089.1_Missense_Mutation_p.A568V|EGFR_ENST00000342916.3_Missense_Mutation_p.A613V|EGFR_ENST00000442591.1_Missense_Mutation_p.A613V|EGFR_ENST00000454757.2_Missense_Mutation_p.A560V	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	613					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	TACGCAGACGCCGGCCATGTG	0.542		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			11	55					0	0	1	0	0	T	55233088	C	T	55233088	3	4	81	1	0	0	0	0	1	0	0	0	4993	739	26	2	1907	2	EGFR	7	55233088	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	23082	55233088	103905575	6027	9643											
EGFR	1956	broad.mit.edu	37	7	55238146	55238146	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:55238146C>T	ENST00000344576.2	+	16	2272	c.2027C>T	c.(2026-2028)cCg>cTg	p.P676L	EGFR_ENST00000455089.1_Intron|EGFR_ENST00000442591.1_Intron|EGFR_ENST00000454757.2_Intron|EGFR_ENST00000275493.2_Intron	NM_201284.1	NP_958441.1	P00533	EGFR_HUMAN	epidermal growth factor receptor	0					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	TCTCTTCTGCCGTCAGAGTTT	0.567		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			15	56					0	0	1	0	0	T	55238146	C	T	55238146	3	4	81	1	0	0	0	0	1	0	0	0	4993	652	23	1	2111	1	EGFR	7	55238146	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	5058	55238146	103900517	6028	9644											
LANCL2	55915	broad.mit.edu	37	7	55466181	55466181	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:55466181C>A	ENST00000254770.2	+	3	966	c.388C>A	c.(388-390)Ctg>Atg	p.L130M	LANCL2_ENST00000486376.1_3'UTR	NM_018697.3	NP_061167.1	Q9NS86	LANC2_HUMAN	LanC lantibiotic synthetase component C-like 2 (bacterial)	130					negative regulation of transcription, DNA-dependent|positive regulation of abscisic acid mediated signaling pathway	cortical actin cytoskeleton|cytosol|nucleus|plasma membrane	ATP binding|catalytic activity|GTP binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	25	Breast(14;0.0379)		Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00128)|Epithelial(13;0.0706)			GCTCCGATCCCTGGATTACGT	0.502													6	64					8.12818e-05	8.94031e-05	1	1	0	A	55466181	C	A	55466181	3	1	81	1	0	0	0	0	1	0	0	0	8660	680	24	4	398	4	LANCL2	7	55466181	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	228035	55466181	103672482	6029	9645											
SEPT14	346288	broad.mit.edu	37	7	55910781	55910781	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:55910781C>T	ENST00000388975.3	-	5	528	c.412G>A	c.(412-414)Gcc>Acc	p.A138T		NM_207366.2	NP_997249.2	Q6ZU15	SEP14_HUMAN	septin 14	138					cell cycle|cell division	septin complex	GTP binding|protein binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|skin(2)	23	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			TGAAGATAGGCCTCAAATTGG	0.358													7	12					0	0	1	0	0	T	55910781	C	T	55910781	3	4	81	1	0	0	0	0	1	0	0	0	14117	739	26	2	910	2	SEPT14	7	55910781	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	444600	55910781	103227882	6030	9646											
SEPT14	346288	broad.mit.edu	37	7	55914312	55914312	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:55914312G>A	ENST00000388975.3	-	3	189	c.73C>T	c.(73-75)Cgt>Tgt	p.R25C	SEPT14_ENST00000477628.1_5'UTR	NM_207366.2	NP_997249.2	Q6ZU15	SEP14_HUMAN	septin 14	25					cell cycle|cell division	septin complex	GTP binding|protein binding	p.R25C(2)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|skin(2)	23	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			GTTAAACAACGAATATTATTT	0.284													28	53					0	0	1	0	0	A	55914312	G	A	55914312	3	1	81	1	0	0	0	0	1	0	0	0	14117	1058	37	1	1257	1	SEPT14	7	55914312	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	3531	55914312	103224351	6031	9647											
CCT6A	908	broad.mit.edu	37	7	56127304	56127304	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:56127304C>T	ENST00000275603.4	+	9	1255	c.1036C>T	c.(1036-1038)Cat>Tat	p.H346Y	CCT6A_ENST00000540286.1_Missense_Mutation_p.H315Y|CCT6A_ENST00000335503.3_Missense_Mutation_p.H301Y	NM_001762.3	NP_001753.1	P40227	TCPZ_HUMAN	chaperonin containing TCP1, subunit 6A (zeta 1)	346					'de novo' posttranslational protein folding	cytosol	ATP binding|unfolded protein binding			breast(1)|cervix(2)|endometrium(1)|large_intestine(4)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)	15	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			CTGCTTGGGACATGCAGGACT	0.383													26	60					0	0	1	0	0	T	56127304	C	T	56127304	3	4	81	1	0	0	0	0	1	0	0	0	2979	478	17	2	1070	2	CCT6A	7	56127304	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	212992	56127304	103011359	6032	9648											
SUMF2	25870	broad.mit.edu	37	7	56140721	56140721	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:56140721G>T	ENST00000434526.2	+	3	344	c.313G>T	c.(313-315)Gaa>Taa	p.E105*	SUMF2_ENST00000395435.2_Nonsense_Mutation_p.E105*|SUMF2_ENST00000342190.6_Nonsense_Mutation_p.E105*|SUMF2_ENST00000395436.2_Nonsense_Mutation_p.E105*|SUMF2_ENST00000437307.2_Nonsense_Mutation_p.E86*|SUMF2_ENST00000275607.9_5'UTR|SUMF2_ENST00000413756.1_Nonsense_Mutation_p.E86*	NM_001042469.1|NM_015411.2	NP_001035934.2|NP_056226	Q8NBJ7	SUMF2_HUMAN	sulfatase modifying factor 2	86						endoplasmic reticulum lumen	metal ion binding			breast(2)|endometrium(2)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	14	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			GTATCGGACAGAAGCTGAGAT	0.483													4	48					5.9392e-07	6.87481e-07	1	1	0	T	56140721	G	T	56140721	4	4	81	1	0	0	0	0	0	1	0	0	15442	943	33	4	323	4	SUMF2	7	56140721	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	13417	56140721	102997942	6033	9649											
SUMF2	25870	broad.mit.edu	37	7	56141896	56141896	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:56141896G>T	ENST00000434526.2	+	4	457	c.426G>T	c.(424-426)aaG>aaT	p.K142N	SUMF2_ENST00000395435.2_Intron|SUMF2_ENST00000342190.6_Missense_Mutation_p.K142N|SUMF2_ENST00000395436.2_Intron|SUMF2_ENST00000437307.2_Missense_Mutation_p.K123N|SUMF2_ENST00000275607.9_Missense_Mutation_p.K35N|SUMF2_ENST00000413756.1_Missense_Mutation_p.K123N	NM_001042469.1|NM_015411.2	NP_001035934.2|NP_056226	Q8NBJ7	SUMF2_HUMAN	sulfatase modifying factor 2	123						endoplasmic reticulum lumen	metal ion binding			breast(2)|endometrium(2)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	14	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			CAGTGGAAAAGGCATTTTGGA	0.552											OREG0018081	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	184					0.00010058	0.000110448	1	1	0	T	56141896	G	T	56141896	3	4	81	1	0	0	0	0	1	0	0	0	15442	991	35	4	440	4	SUMF2	7	56141896	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1175	56141896	102996767	6034	9650											
SUMF2	25870	broad.mit.edu	37	7	56145875	56145875	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:56145875C>T	ENST00000434526.2	+	7	760	c.729C>T	c.(727-729)aaC>aaT	p.N243N	SUMF2_ENST00000395435.2_Silent_p.N159N|SUMF2_ENST00000342190.6_Silent_p.N243N|SUMF2_ENST00000395436.2_Silent_p.N228N|SUMF2_ENST00000437307.2_Silent_p.N155N|SUMF2_ENST00000275607.9_Silent_p.N136N|SUMF2_ENST00000413756.1_Silent_p.N224N	NM_001042469.1|NM_015411.2	NP_001035934.2|NP_056226	Q8NBJ7	SUMF2_HUMAN	sulfatase modifying factor 2	224						endoplasmic reticulum lumen	metal ion binding			breast(2)|endometrium(2)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	14	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			CCCAGAACAACTACGGTAAGA	0.567													38	55					0	0	1	0	0	T	56145875	C	T	56145875	2	4	81	1	0	0	0	0	0	0	0	1	15442	564	20	2		2	SUMF2	7	56145875	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3979	56145875	102992788	6035	9651											
PHKG1	5260	broad.mit.edu	37	7	56148787	56148787	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:56148787G>A	ENST00000452681.2	-	11	1369	c.1220C>T	c.(1219-1221)cCc>cTc	p.P407L	PHKG1_ENST00000297373.2_Missense_Mutation_p.P375L|PHKG1_ENST00000537360.1_Missense_Mutation_p.P321L	NM_001258459.1	NP_001245388.1	Q16816	PHKG1_HUMAN	phosphorylase kinase, gamma 1 (muscle)	375					glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	ATP binding|calmodulin binding|phosphorylase kinase activity			endometrium(1)|large_intestine(1)|lung(5)	7	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			CACGGCCTTGGGTGTGTTCTC	0.637													3	58					0	0	1	0	0	A	56148787	G	A	56148787	3	1	81	1	0	0	0	0	1	0	0	0	11894	1232	43	2	43	2	PHKG1	7	56148787	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2912	56148787	102989876	6036	9652											
PHKG1	5260	broad.mit.edu	37	7	56151049	56151049	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:56151049G>T	ENST00000452681.2	-	7	714	c.565C>A	c.(565-567)Ctc>Atc	p.L189I	PHKG1_ENST00000297373.2_Missense_Mutation_p.L157I|PHKG1_ENST00000537360.1_Missense_Mutation_p.L103I	NM_001258459.1	NP_001245388.1	Q16816	PHKG1_HUMAN	phosphorylase kinase, gamma 1 (muscle)	157	Protein kinase.				glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	ATP binding|calmodulin binding|phosphorylase kinase activity			endometrium(1)|large_intestine(1)|lung(5)	7	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			TCATCCAAGAGAATGTTCTCG	0.552													17	46					2.35188e-11	2.91332e-11	1	1	0	T	56151049	G	T	56151049	3	4	81	1	0	0	0	0	1	0	0	0	11894	942	33	4	714	4	PHKG1	7	56151049	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2262	56151049	102987614	6037	9653											
CHCHD2	51142	broad.mit.edu	37	7	56171941	56171941	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:56171941G>A	ENST00000395422.3	-	2	440	c.278C>T	c.(277-279)gCg>gTg	p.A93V		NM_016139.2	NP_057223.1	Q9Y6H1	CHCH2_HUMAN	coiled-coil-helix-coiled-coil-helix domain containing 2	93						mitochondrion				endometrium(1)|large_intestine(1)|lung(3)	5	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			GTCAGGCCTCGCAGGCTCAGC	0.532													31	96					0	0	1	0	0	A	56171941	G	A	56171941	3	1	81	1	0	0	0	0	1	0	0	0	3338	1087	38	1	189	1	CHCHD2	7	56171941	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	20892	56171941	102966722	6038	9654	42	2									
CHCHD2	51142	broad.mit.edu	37	7	56171950	56171950	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:56171950G>A	ENST00000395422.3	-	2	431	c.269C>T	c.(268-270)gCt>gTt	p.A90V		NM_016139.2	NP_057223.1	Q9Y6H1	CHCH2_HUMAN	coiled-coil-helix-coiled-coil-helix domain containing 2	90						mitochondrion				endometrium(1)|large_intestine(1)|lung(3)	5	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			CGCAGGCTCAGCATTACTTCC	0.547													29	88					0	0	1	0	0	A	56171950	G	A	56171950	3	1	81	1	0	0	0	0	1	0	0	0	3338	971	34	2	198	2	CHCHD2	7	56171950	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	9	56171950	102966713	6039	9655	42	2									
ZNF479	90827	broad.mit.edu	37	7	57188713	57188713	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:57188713C>A	ENST00000331162.4	-	5	679	c.409G>T	c.(409-411)Gtg>Ttg	p.V137L		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	137					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			CCCTTGTGCACCTCATATTCA	0.318													8	179					0.000157383	0.000171784	1	1	0	A	57188713	C	A	57188713	3	1	81	1	0	0	0	0	1	0	0	0	17990	507	18	5	1169	5	ZNF479	7	57188713	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1016763	57188713	101949950	6040	9656											
ZNF107	51427	broad.mit.edu	37	7	64168631	64168631	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:64168631C>T	ENST00000395391.1	+	4	3324	c.1949C>T	c.(1948-1950)aCc>aTc	p.T650I	ZNF107_ENST00000344930.3_Missense_Mutation_p.T650I|ZNF107_ENST00000423627.1_Missense_Mutation_p.T650I			Q9UII5	ZN107_HUMAN	zinc finger protein 107	650					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(18)|ovary(1)|stomach(1)	37		Lung NSC(55;0.00948)|all_lung(88;0.0249)				TGCTCCTCAACCCTTAATAGA	0.373													4	43					0	0	1	0	0	T	64168631	C	T	64168631	3	4	81	1	0	0	0	0	1	0	0	0	17773	507	18	2	1955	2	ZNF107	7	64168631	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	6979918	64168631	94970032	6041	9657											
ZNF117	51351	broad.mit.edu	37	7	64441793	64441793	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:64441793C>T	ENST00000282869.6	-	3	1290	c.6G>A	c.(4-6)aaG>aaA	p.K2K		NM_015852.3	NP_056936.2	Q03924	ZN117_HUMAN	zinc finger protein 117							nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(1)|skin(1)	22		Lung NSC(55;0.0295)|all_lung(88;0.0691)				TCTCATGTCTCTTCATATTCC	0.403													100	84					0	0	1	0	0	T	64441793	C	T	64441793	2	4	81	1	0	0	0	0	0	0	0	1	17775	912	32	2		2	ZNF117	7	64441793	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	273162	64441793	94696870	6042	9658											
GUSB	2990	broad.mit.edu	37	7	65432799	65432799	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:65432799C>A	ENST00000304895.4	-	10	1702	c.1572G>T	c.(1570-1572)caG>caT	p.Q524H	GUSB_ENST00000345660.6_Missense_Mutation_p.Q473H|GUSB_ENST00000421103.1_Missense_Mutation_p.Q378H	NM_000181.3	NP_000172.2	P08236	BGLR_HUMAN	glucuronidase, beta	524					glycosaminoglycan catabolic process	lysosome	beta-glucuronidase activity|cation binding			breast(1)|cervix(2)|kidney(2)|large_intestine(4)|lung(10)|skin(1)	20						AGTTCTCAAACTGGGTGGCCA	0.483													22	76					1.9806e-07	2.31852e-07	1	1	0	A	65432799	C	A	65432799	3	1	81	1	0	0	0	0	1	0	0	0	6943	564	20	4	395	4	GUSB	7	65432799	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	991006	65432799	93705864	6043	9659											
GUSB	2990	broad.mit.edu	37	7	65435343	65435343	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:65435343C>T	ENST00000304895.4	-	9	1532	c.1402G>A	c.(1402-1404)Gct>Act	p.A468T	GUSB_ENST00000345660.6_Missense_Mutation_p.A417T|GUSB_ENST00000421103.1_Missense_Mutation_p.A322T	NM_000181.3	NP_000172.2	P08236	BGLR_HUMAN	glucuronidase, beta	468					glycosaminoglycan catabolic process	lysosome	beta-glucuronidase activity|cation binding			breast(1)|cervix(2)|kidney(2)|large_intestine(4)|lung(10)|skin(1)	20						TTGGTGTGAGCGATCACCATC	0.572													32	18					0	0	1	0	0	T	65435343	C	T	65435343	3	4	81	1	0	0	0	0	1	0	0	0	6943	768	27	1	569	1	GUSB	7	65435343	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2544	65435343	93703320	6044	9660											
ASL	435	broad.mit.edu	37	7	65554633	65554633	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:65554633C>A	ENST00000304874.9	+	14	1115	c.1013C>A	c.(1012-1014)aCt>aAt	p.T338N	ASL_ENST00000395332.3_Missense_Mutation_p.T338N|ASL_ENST00000464970.1_3'UTR|ASL_ENST00000395331.3_Missense_Mutation_p.T318N|AC068533.7_ENST00000450043.1_Missense_Mutation_p.H106Q|ASL_ENST00000380839.4_Missense_Mutation_p.T312N	NM_000048.3	NP_000039.2	P04424	ARLY_HUMAN	argininosuccinate lyase	338					arginine biosynthetic process via ornithine|arginine catabolic process|urea cycle	cytosol	argininosuccinate lyase activity			breast(3)|endometrium(3)|large_intestine(2)|lung(9)|upper_aerodigestive_tract(1)	18					L-Arginine(DB00125)	GTGTCAGACACTATGAGTGCC	0.637													15	28					0.146539	0.148881	1	1	0	A	65554633	C	A	65554633	3	1	81	1	0	0	0	0	1	0	0	0	1043	565	20	4	1063	4	ASL	7	65554633	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	119290	65554633	93584030	6045	9661											
TPST1	8460	broad.mit.edu	37	7	65751514	65751514	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:65751514G>A	ENST00000304842.5	+	3	1287	c.862G>A	c.(862-864)Gac>Aac	p.D288N	TPST1_ENST00000480281.1_3'UTR	NM_003596.3	NP_003587.1	O60507	TPST1_HUMAN	tyrosylprotein sulfotransferase 1	288					inflammatory response|peptidyl-tyrosine sulfation	Golgi membrane|integral to membrane|membrane fraction	protein-tyrosine sulfotransferase activity			NS(1)|biliary_tract(1)|breast(1)|kidney(3)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11						GAGATCTACAGACCAAGTAAT	0.323													34	26					0	0	1	0	0	A	65751514	G	A	65751514	3	1	81	1	0	0	0	0	1	0	0	0	16488	942	33	2	868	2	TPST1	7	65751514	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	196881	65751514	93387149	6046	9662											
TPST1	8460	broad.mit.edu	37	7	65817504	65817504	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:65817504G>T	ENST00000304842.5	+	4	1482	c.1057G>T	c.(1057-1059)Gaa>Taa	p.E353*	TPST1_ENST00000480281.1_3'UTR	NM_003596.3	NP_003587.1	O60507	TPST1_HUMAN	tyrosylprotein sulfotransferase 1	353					inflammatory response|peptidyl-tyrosine sulfation	Golgi membrane|integral to membrane|membrane fraction	protein-tyrosine sulfotransferase activity			NS(1)|biliary_tract(1)|breast(1)|kidney(3)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11						CTATAAGGGAGAATTCCAACT	0.453													43	150					4.18559e-23	5.51063e-23	1	1	0	T	65817504	G	T	65817504	4	4	81	1	0	0	0	0	0	1	0	0	16488	943	33	4	1067	4	TPST1	7	65817504	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	65990	65817504	93321159	6047	9663											
KCTD7	154881	broad.mit.edu	37	7	66104046	66104046	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:66104046G>T	ENST00000275532.3	+	4	881	c.697G>T	c.(697-699)Ggg>Tgg	p.G233W	KCTD7_ENST00000443322.1_Missense_Mutation_p.G233W	NM_001167961.2|NM_153033.4	NP_001161433.1|NP_694578.1	Q96MP8	KCTD7_HUMAN	potassium channel tetramerization domain containing 7	233						voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|urinary_tract(1)	16						TGTGTCTTTTGGGCCCTGGGA	0.597													6	86					2.0095e-06	2.30238e-06	1	1	0	T	66104046	G	T	66104046	3	4	81	1	0	0	0	0	1	0	0	0	8158	1348	47	5	711	5	KCTD7	7	66104046	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	286542	66104046	93034617	6048	9664											
KCTD7	154881	broad.mit.edu	37	7	66248680	66248680	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:66248680C>T	ENST00000380828.2	+	6	639	c.485C>T	c.(484-486)gCt>gTt	p.A162V	RABGEF1_ENST00000439720.2_Missense_Mutation_p.A135V|RABGEF1_ENST00000437078.2_Missense_Mutation_p.A136V|RABGEF1_ENST00000284957.5_Missense_Mutation_p.A122V|KCTD7_ENST00000451741.2_Missense_Mutation_p.A122V|RABGEF1_ENST00000484547.2_3'UTR|KCTD7_ENST00000510829.2_Missense_Mutation_p.A122V|RABGEF1_ENST00000450873.2_Missense_Mutation_p.A122V			Q96MP8	KCTD7_HUMAN	potassium channel tetramerization domain containing 7	0						voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|urinary_tract(1)	16						GAAGCAAAAGCTCCCAGTCCT	0.388													35	24					0	0	1	0	0	T	66248680	C	T	66248680	3	4	81	1	0	0	0	0	1	0	0	0	8158	797	28	2		2	KCTD7	7	66248680	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	144634	66248680	92889983	6049	9665											
SBDS	51119	broad.mit.edu	37	7	66458363	66458363	+	Silent	SNP	T	T	C	rs113993994		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:66458363T>C	ENST00000246868.2	-	3	483	c.300A>G	c.(298-300)agA>agG	p.R100R		NM_016038.2	NP_057122.2	Q9Y3A5	SBDS_HUMAN	Shwachman-Bodian-Diamond syndrome	100					bone marrow development|bone mineralization|leukocyte chemotaxis|mature ribosome assembly|mitotic spindle stabilization|positive regulation of translation|ribosomal large subunit biogenesis|rRNA processing	cytoplasm|nucleolus|nucleoplasm|spindle pole	microtubule binding|ribosome binding|rRNA binding			cervix(1)|endometrium(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	7						GTTGTGTGTGTCTTTCTTTAT	0.353			Gene Conversion			"AML, MDS"			Shwachman-Diamond syndrome				102	86					0	0	1	0	0	C	66458363	T	C	66458363	2	2	81	1	0	0	0	0	0	0	0	1	13910	1664	58	3		3	SBDS	7	66458363	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	209683	66458363	92680300	6050	9666											
SBDS	51119	broad.mit.edu	37	7	66459326	66459326	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:66459326T>C	ENST00000246868.2	-	2	314	c.131A>G	c.(130-132)gAa>gGa	p.E44G		NM_016038.2	NP_057122.2	Q9Y3A5	SBDS_HUMAN	Shwachman-Bodian-Diamond syndrome	44			E -> G (in SDS).		bone marrow development|bone mineralization|leukocyte chemotaxis|mature ribosome assembly|mitotic spindle stabilization|positive regulation of translation|ribosomal large subunit biogenesis|rRNA processing	cytoplasm|nucleolus|nucleoplasm|spindle pole	microtubule binding|ribosome binding|rRNA binding			cervix(1)|endometrium(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	7						GAGGTCTTTTTCCCTTGTGAG	0.413			Gene Conversion			"AML, MDS"			Shwachman-Diamond syndrome				10	93					0	0	1	0	0	C	66459326	T	C	66459326	3	2	81	1	0	0	0	0	1	0	0	0	13910	1783	62	3	637	3	SBDS	7	66459326	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	963	66459326	92679337	6051	9667											
TYW1	55253	broad.mit.edu	37	7	66463908	66463908	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:66463908G>T	ENST00000359626.5	+	3	404	c.240G>T	c.(238-240)aaG>aaT	p.K80N		NM_018264.2	NP_060734.2	Q9NV66	TYW1_HUMAN	tRNA-yW synthesizing protein 1 homolog (S. cerevisiae)	80	Flavodoxin-like.				tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity			breast(1)|endometrium(8)|kidney(10)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(3)|stomach(2)|urinary_tract(2)	46		Lung NSC(55;0.0846)|all_lung(88;0.183)				CTGGAGTGAAGATTTTTTATG	0.368													28	100					1.68575e-08	2.00735e-08	1	1	0	T	66463908	G	T	66463908	3	4	81	1	0	0	0	0	1	0	0	0	16880	933	33	4	250	4	TYW1	7	66463908	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	4582	66463908	92674755	6052	9668											
TYW1	55253	broad.mit.edu	37	7	66532272	66532272	+	Splice_Site	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:66532272T>C	ENST00000359626.5	+	10	1320	c.1156T>C	c.(1156-1158)Tcc>Ccc	p.S386P		NM_018264.2	NP_060734.2	Q9NV66	TYW1_HUMAN	tRNA-yW synthesizing protein 1 homolog (S. cerevisiae)	386					tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity			breast(1)|endometrium(8)|kidney(10)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(3)|stomach(2)|urinary_tract(2)	46		Lung NSC(55;0.0846)|all_lung(88;0.183)				CTTGTCATAGTCCATGCTCCG	0.418													76	52					0	0	1	0	0	C	66532272	T	C	66532272	5	2	81	1	0	0	0	0	0	0	1	0	16880	1681	58	3	1194	3	TYW1	7	66532272	Splice_Site	SNP	T	TCGA-DU-6392-01A-11D-1705-08	68364	66532272	92606391	6053	9669											
TYW1	55253	broad.mit.edu	37	7	66532333	66532333	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:66532333G>A	ENST00000359626.5	+	10	1381	c.1217G>A	c.(1216-1218)cGc>cAc	p.R406H		NM_018264.2	NP_060734.2	Q9NV66	TYW1_HUMAN	tRNA-yW synthesizing protein 1 homolog (S. cerevisiae)	406					tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity			breast(1)|endometrium(8)|kidney(10)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(3)|stomach(2)|urinary_tract(2)	46		Lung NSC(55;0.0846)|all_lung(88;0.183)				GAGAGCCATCGCTGCATGGAA	0.413													99	68					0	0	1	0	0	A	66532333	G	A	66532333	3	1	81	1	0	0	0	0	1	0	0	0	16880	1087	38	1	1255	1	TYW1	7	66532333	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	61	66532333	92606330	6054	9670											
TYW1	55253	broad.mit.edu	37	7	66548517	66548517	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:66548517C>T	ENST00000359626.5	+	11	1539	c.1375C>T	c.(1375-1377)Cag>Tag	p.Q459*		NM_018264.2	NP_060734.2	Q9NV66	TYW1_HUMAN	tRNA-yW synthesizing protein 1 homolog (S. cerevisiae)	459					tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity			breast(1)|endometrium(8)|kidney(10)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(3)|stomach(2)|urinary_tract(2)	46		Lung NSC(55;0.0846)|all_lung(88;0.183)				CATGATTAAGCAGTTTAAAGG	0.433													25	35					0	0	1	0	0	T	66548517	C	T	66548517	4	4	81	1	0	0	0	0	0	1	0	0	16880	711	25	2	1417	2	TYW1	7	66548517	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	16184	66548517	92590146	6055	9671											
AUTS2	26053	broad.mit.edu	37	7	69364466	69364466	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:69364466G>A	ENST00000342771.4	+	2	825	c.504G>A	c.(502-504)atG>atA	p.M168I	AUTS2_ENST00000403018.2_Missense_Mutation_p.M168I|AUTS2_ENST00000406775.2_Missense_Mutation_p.M168I	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	168										breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		GAAAGAAAATGCCGAAGGCAC	0.502													49	46					0	0	1	0	0	A	69364466	G	A	69364466	3	1	81	1	0	0	0	0	1	0	0	0	1223	1319	46	2	510	2	AUTS2	7	69364466	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2815949	69364466	89774197	6056	9672											
AUTS2	26053	broad.mit.edu	37	7	70229955	70229955	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:70229955C>T	ENST00000342771.4	+	8	1753	c.1432C>T	c.(1432-1434)Cag>Tag	p.Q478*	AUTS2_ENST00000406775.2_Nonsense_Mutation_p.Q478*	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	478										breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		AGGAAGTCTGCAGGTGGCCGG	0.662													12	20					0	0	1	0	0	T	70229955	C	T	70229955	4	4	81	1	0	0	0	0	0	1	0	0	1223	711	25	2	1607	2	AUTS2	7	70229955	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	865489	70229955	88908708	6057	9673											
WBSCR17	64409	broad.mit.edu	37	7	70885988	70885988	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:70885988C>T	ENST00000333538.5	+	5	1493	c.859C>T	c.(859-861)Cgg>Tgg	p.R287W	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	287						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)				TGAGGTGCAGCGGTACGAGAA	0.577													10	192					0	0	1	0	0	T	70885988	C	T	70885988	3	4	81	1	0	0	0	0	1	0	0	0	17324	759	27	1	877	1	WBSCR17	7	70885988	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	656033	70885988	88252675	6058	9674											
POM121	9883	broad.mit.edu	37	7	72412550	72412550	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:72412550C>T	ENST00000395270.1	+	14	2264	c.1223C>T	c.(1222-1224)gCc>gTc	p.A408V	POM121_ENST00000358357.3_Missense_Mutation_p.A408V|POM121_ENST00000257622.4_Missense_Mutation_p.A408V|POM121_ENST00000446813.1_Missense_Mutation_p.A408V|POM121_ENST00000434423.2_Missense_Mutation_p.A673V	NM_001257190.1	NP_001244119.1	Q96HA1	P121A_HUMAN	POM121 transmembrane nucleoporin	673	Pore side (Potential).|Ser-rich.				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				ATGGTACCAGCCACTGACACC	0.627													7	81					0	0	1	0	0	T	72412550	C	T	72412550	3	4	81	1	0	0	0	0	1	0	0	0	12287	739	26	2	1261	2	POM121	7	72412550	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1526562	72412550	86726113	6059	9675											
POM121	9883	broad.mit.edu	37	7	72416129	72416129	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:72416129C>T	ENST00000395270.1	+	15	3780	c.2739C>T	c.(2737-2739)acC>acT	p.T913T	POM121_ENST00000358357.3_Silent_p.T913T|POM121_ENST00000257622.4_Silent_p.T913T|POM121_ENST00000446813.1_Silent_p.T913T|POM121_ENST00000434423.2_Silent_p.T1178T	NM_001257190.1	NP_001244119.1	Q96HA1	P121A_HUMAN	POM121 transmembrane nucleoporin	1178	Pore side (Potential).|Thr-rich.				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				TTCCAGGCACCGCCACCCCCA	0.652													18	19					0	0	1	0	0	T	72416129	C	T	72416129	2	4	81	1	0	0	0	0	0	0	0	1	12287	639	23	1		1	POM121	7	72416129	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3579	72416129	86722534	6060	9676											
NSUN5	55695	broad.mit.edu	37	7	72717608	72717608	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:72717608G>A	ENST00000428206.1	-	9	1174	c.1161C>T	c.(1159-1161)gtC>gtT	p.V387V	NSUN5_ENST00000252594.6_Silent_p.V425V|NSUN5_ENST00000310326.8_Silent_p.V425V|NSUN5_ENST00000438747.2_Silent_p.V425V	NM_001168348.1	NP_001161820.1	Q96P11	NSUN5_HUMAN	NOP2/Sun domain family, member 5	425							methyltransferase activity			breast(1)|endometrium(3)|large_intestine(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	8		Lung NSC(55;0.163)				TTGGCACCTCGACCCGTTCAA	0.612													26	27					0	0	1	0	0	A	72717608	G	A	72717608	2	1	81	1	0	0	0	0	0	0	0	1	10729	1045	37	1		1	NSUN5	7	72717608	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	301479	72717608	86421055	6061	9677											
TRIM50	135892	broad.mit.edu	37	7	72732972	72732972	+	Missense_Mutation	SNP	C	C	T	rs147367299	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:72732972C>T	ENST00000333149.2	-	4	775	c.575G>A	c.(574-576)cGc>cAc	p.R192H	TRIM50_ENST00000453152.1_Missense_Mutation_p.R192H	NM_178125.2	NP_835226.2	Q86XT4	TRI50_HUMAN	tripartite motif containing 50	192						cytoplasm|intracellular membrane-bounded organelle	ligase activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|skin(2)	20						CTCCAGGCAGCGGGCCTTCTC	0.677													68	122					0	0	1	0	0	T	72732972	C	T	72732972	3	4	81	1	0	0	0	0	1	0	0	0	16587	768	27	1	904	1	TRIM50	7	72732972	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	15364	72732972	86405691	6062	9678											
FZD9	8326	broad.mit.edu	37	7	72849436	72849436	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:72849436G>A	ENST00000344575.3	+	1	1328	c.1099G>A	c.(1099-1101)Gcg>Acg	p.A367T		NM_003508.2	NP_003499.1	O00144	FZD9_HUMAN	frizzled family receptor 9	367					B cell differentiation|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|neuroblast proliferation|vasculature development	cell surface|filopodium membrane|integral to membrane|perinuclear region of cytoplasm	G-protein coupled receptor activity|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|skin(1)	14		Lung NSC(55;0.0659)|all_lung(88;0.152)				GGGCCTGCCCGCGCTCAAGAC	0.657													11	38					0	0	1	0	0	A	72849436	G	A	72849436	3	1	81	1	0	0	0	0	1	0	0	0	6172	1087	38	1	1101	1	FZD9	7	72849436	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	116464	72849436	86289227	6063	9679											
BAZ1B	9031	broad.mit.edu	37	7	72892056	72892056	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:72892056G>A	ENST00000339594.4	-	7	2073	c.1735C>T	c.(1735-1737)Cgg>Tgg	p.R579W	BAZ1B_ENST00000404251.1_Missense_Mutation_p.R579W	NM_032408.3	NP_115784.1	Q9UIG0	BAZ1B_HUMAN	bromodomain adjacent to zinc finger domain, 1B	579					ATP-dependent chromatin remodeling|chromatin-mediated maintenance of transcription|DNA replication-dependent nucleosome disassembly|double-strand break repair|heart morphogenesis|transcription, DNA-dependent	WINAC complex	ATP binding|chromatin binding|histone acetyl-lysine binding|histone kinase activity|non-membrane spanning protein tyrosine kinase activity|protein complex scaffold|vitamin D receptor activator activity|vitamin D receptor binding|zinc ion binding			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Lung NSC(55;0.0659)|all_lung(88;0.152)				TCCTCATACCGCTTCTGTTTT	0.438													177	152					0	0	1	0	0	A	72892056	G	A	72892056	3	1	81	1	0	0	0	0	1	0	0	0	1328	1086	38	1	2768	1	BAZ1B	7	72892056	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	42620	72892056	86246607	6064	9680											
MLXIPL	51085	broad.mit.edu	37	7	73010520	73010520	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:73010520C>A	ENST00000313375.3	-	13	2068	c.2021G>T	c.(2020-2022)gGg>gTg	p.G674V	MLXIPL_ENST00000395189.1_Missense_Mutation_p.G581V|MLXIPL_ENST00000429400.2_Missense_Mutation_p.G674V|MLXIPL_ENST00000414749.2_Missense_Mutation_p.G672V|MLXIPL_ENST00000354613.1_Missense_Mutation_p.G672V|MLXIPL_ENST00000434326.1_Missense_Mutation_p.G580V	NM_032951.2|NM_032953.2	NP_116569.1|NP_116571.1	Q9NP71	WBS14_HUMAN	MLX interacting protein-like	674					anatomical structure morphogenesis|energy reserve metabolic process|glucose mediated signaling pathway|intracellular protein kinase cascade|negative regulation of cell cycle arrest|negative regulation of oxidative phosphorylation|negative regulation of peptidyl-serine phosphorylation|positive regulation of cell proliferation|positive regulation of fatty acid biosynthetic process|positive regulation of glycolysis|positive regulation of transcription from RNA polymerase II promoter|triglyceride homeostasis	cytosol|transcription factor complex	carbohydrate response element binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding			cervix(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	13		Lung NSC(55;0.0659)|all_lung(88;0.152)				GCTCACGAGCCCATGAAGGGT	0.642													23	52					4.26978e-12	5.32034e-12	1	1	0	A	73010520	C	A	73010520	3	1	81	1	0	0	0	0	1	0	0	0	9685	623	22	5	557	5	MLXIPL	7	73010520	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	118464	73010520	86128143	6065	9681											
WBSCR22	114049	broad.mit.edu	37	7	73108321	73108321	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:73108321G>T	ENST00000423166.2	+	8	564		c.e8-1		WBSCR22_ENST00000265758.2_Splice_Site|WBSCR22_ENST00000423497.1_Splice_Site			O43709	WBS22_HUMAN	Williams Beuren syndrome chromosome region 22							nucleus	methyltransferase activity			autonomic_ganglia(1)|large_intestine(2)|lung(9)|prostate(1)	13		Lung NSC(55;0.0908)|all_lung(88;0.198)				GGTTCCTGCAGGGGCTGAGTG	0.587													5	66					0.184627	0.18622	1	1	0	T	73108321	G	T	73108321	5	4	81	1	0	0	0	0	0	0	1	0	17325	1014	35	4	680	4	WBSCR22	7	73108321	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	97801	73108321	86030342	6066	9682											
CLDN4	1364	broad.mit.edu	37	7	73245993	73245993	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:73245993C>T	ENST00000435050.1	+	2	3142	c.462C>T	c.(460-462)tcC>tcT	p.S154S	CLDN4_ENST00000340958.2_Silent_p.S154S|CLDN4_ENST00000431918.1_Silent_p.S154S			O14493	CLD4_HUMAN	claudin 4	154					calcium-independent cell-cell adhesion	integral to plasma membrane|tight junction	identical protein binding|structural molecule activity|transmembrane receptor activity			kidney(2)|lung(4)|urinary_tract(1)	7		Lung NSC(55;0.159)				TGGTGGCCTCCGGGCAGAAGC	0.657													32	21					0	0	1	0	0	T	73245993	C	T	73245993	2	4	81	1	0	0	0	0	0	0	0	1	3510	639	23	1		1	CLDN4	7	73245993	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	137672	73245993	85892670	6067	9683											
ELN	2006	broad.mit.edu	37	7	73456972	73456972	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:73456972T>C	ENST00000252034.7	+	6	660	c.261T>C	c.(259-261)ttT>ttC	p.F87F	ELN_ENST00000320492.7_Silent_p.F75F|ELN_ENST00000429192.1_Silent_p.F87F|ELN_ENST00000320399.6_Silent_p.F87F|ELN_ENST00000380576.5_Silent_p.F87F|ELN_ENST00000380562.4_Silent_p.F87F|ELN_ENST00000380575.4_Silent_p.F77F|ELN_ENST00000458204.1_Silent_p.F77F|ELN_ENST00000358929.4_Silent_p.F87F|ELN_ENST00000414324.1_Silent_p.F77F|ELN_ENST00000380584.4_Silent_p.F87F|ELN_ENST00000357036.5_Silent_p.F87F|ELN_ENST00000445912.1_Silent_p.F87F|ELN_ENST00000380553.4_Intron	NM_000501.2|NM_001278915.1	NP_000492.2|NP_001265844.1	P15502	ELN_HUMAN	elastin	87					blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange	proteinaceous extracellular matrix	extracellular matrix constituent conferring elasticity|protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)			Rofecoxib(DB00533)	CAGTTACCTTTCCGGGGGCTC	0.627			T	PAX5	B-ALL		"Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"						7	98					0	0	1	0	0	C	73456972	T	C	73456972	2	2	81	1	0	0	0	0	0	0	0	1	5099	1780	62	3		3	ELN	7	73456972	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	210979	73456972	85681691	6068	9684											
ELN	2006	broad.mit.edu	37	7	73475434	73475434	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:73475434C>A	ENST00000252034.7	+	26	2150	c.1751C>A	c.(1750-1752)cCt>cAt	p.P584H	ELN_ENST00000320492.7_Missense_Mutation_p.P503H|ELN_ENST00000429192.1_Missense_Mutation_p.P570H|ELN_ENST00000320399.6_Missense_Mutation_p.P617H|ELN_ENST00000380576.5_Missense_Mutation_p.P565H|ELN_ENST00000380562.4_Missense_Mutation_p.P590H|ELN_ENST00000380575.4_Missense_Mutation_p.P555H|ELN_ENST00000458204.1_Missense_Mutation_p.P574H|CTB-51J22.1_ENST00000435932.1_RNA|ELN_ENST00000358929.4_Missense_Mutation_p.P652H|ELN_ENST00000414324.1_Missense_Mutation_p.P560H|ELN_ENST00000380584.4_Missense_Mutation_p.P536H|ELN_ENST00000357036.5_Missense_Mutation_p.P589H|ELN_ENST00000445912.1_Missense_Mutation_p.P584H|ELN_ENST00000380553.4_Missense_Mutation_p.P448H	NM_000501.2|NM_001278915.1	NP_000492.2|NP_001265844.1	P15502	ELN_HUMAN	elastin	646	Ala-rich.				blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange	proteinaceous extracellular matrix	extracellular matrix constituent conferring elasticity|protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)			Rofecoxib(DB00533)	TCCCCAGTACCTGGAGCCCTG	0.597			T	PAX5	B-ALL		"Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"						17	67					4.75885e-15	6.06359e-15	1	1	0	A	73475434	C	A	73475434	3	1	81	1	0	0	0	0	1	0	0	0	5099	681	24	4	1868	4	ELN	7	73475434	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	18462	73475434	85663229	6069	9685											
ELN	2006	broad.mit.edu	37	7	73477524	73477524	+	Missense_Mutation	SNP	G	G	A	rs140425210	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:73477524G>A	ENST00000252034.7	+	27	2227	c.1828G>A	c.(1828-1830)Ggt>Agt	p.G610S	ELN_ENST00000320492.7_Missense_Mutation_p.G529S|ELN_ENST00000429192.1_Missense_Mutation_p.G596S|ELN_ENST00000320399.6_Missense_Mutation_p.G643S|ELN_ENST00000380576.5_Missense_Mutation_p.G591S|ELN_ENST00000380562.4_Missense_Mutation_p.G616S|ELN_ENST00000380575.4_Missense_Mutation_p.G581S|ELN_ENST00000458204.1_Missense_Mutation_p.G600S|ELN_ENST00000358929.4_Missense_Mutation_p.G678S|ELN_ENST00000414324.1_Missense_Mutation_p.G586S|ELN_ENST00000380584.4_Missense_Mutation_p.G562S|ELN_ENST00000357036.5_Missense_Mutation_p.G615S|ELN_ENST00000445912.1_Missense_Mutation_p.G610S|ELN_ENST00000380553.4_Missense_Mutation_p.G474S	NM_000501.2|NM_001278915.1	NP_000492.2|NP_001265844.1	P15502	ELN_HUMAN	elastin	672	Ala-rich.		G -> R (in dbSNP:rs17855988).		blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange	proteinaceous extracellular matrix	extracellular matrix constituent conferring elasticity|protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)			Rofecoxib(DB00533)	CGGGGCTCTCGGTGGAGTAGG	0.622			T	PAX5	B-ALL		"Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"						12	11					0	0	1	0	0	A	73477524	G	A	73477524	3	1	81	1	0	0	0	0	1	0	0	0	5099	1116	39	1	1949	1	ELN	7	73477524	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2090	73477524	85661139	6070	9686											
CLIP2	7461	broad.mit.edu	37	7	73770789	73770789	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:73770789G>A	ENST00000223398.6	+	5	1180	c.853G>A	c.(853-855)Gtg>Atg	p.V285M	CLIP2_ENST00000395060.1_Missense_Mutation_p.V285M|CLIP2_ENST00000361545.5_Missense_Mutation_p.V285M	NM_003388.4	NP_003379	Q9UDT6	CLIP2_HUMAN	CAP-GLY domain containing linker protein 2	285						microtubule associated complex				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						CATCCACAAAGTGATCCGTAT	0.587													9	94					0	0	1	0	0	A	73770789	G	A	73770789	3	1	81	1	0	0	0	0	1	0	0	0	3556	1029	36	2	867	2	CLIP2	7	73770789	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	293265	73770789	85367874	6071	9687											
CLIP2	7461	broad.mit.edu	37	7	73770800	73770800	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:73770800C>T	ENST00000223398.6	+	5	1191	c.864C>T	c.(862-864)atC>atT	p.I288I	CLIP2_ENST00000395060.1_Silent_p.I288I|CLIP2_ENST00000361545.5_Silent_p.I288I	NM_003388.4	NP_003379	Q9UDT6	CLIP2_HUMAN	CAP-GLY domain containing linker protein 2	288						microtubule associated complex				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						TGATCCGTATCGGCTTCCCAT	0.587													8	86					0	0	1	0	0	T	73770800	C	T	73770800	2	4	81	1	0	0	0	0	0	0	0	1	3556	874	31	1		1	CLIP2	7	73770800	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	11	73770800	85367863	6072	9688											
CLIP2	7461	broad.mit.edu	37	7	73790597	73790597	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:73790597G>A	ENST00000223398.6	+	10	2193	c.1866G>A	c.(1864-1866)tcG>tcA	p.S622S	CLIP2_ENST00000395060.1_Silent_p.S622S|CLIP2_ENST00000361545.5_Silent_p.S587S	NM_003388.4	NP_003379	Q9UDT6	CLIP2_HUMAN	CAP-GLY domain containing linker protein 2	622						microtubule associated complex				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						CGCTGGCCTCGGACCACCAGA	0.622													14	42					0	0	1	0	0	A	73790597	G	A	73790597	2	1	81	1	0	0	0	0	0	0	0	1	3556	1103	39	1		1	CLIP2	7	73790597	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	19797	73790597	85348066	6073	9689											
CLIP2	7461	broad.mit.edu	37	7	73814804	73814804	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:73814804C>T	ENST00000223398.6	+	15	3312	c.2985C>T	c.(2983-2985)gaC>gaT	p.D995D	CLIP2_ENST00000395060.1_Silent_p.D995D|CLIP2_ENST00000361545.5_Silent_p.D960D	NM_003388.4	NP_003379	Q9UDT6	CLIP2_HUMAN	CAP-GLY domain containing linker protein 2	995						microtubule associated complex				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						GCACGGAGGACGCCCTGCGGG	0.657													14	24					0	0	1	0	0	T	73814804	C	T	73814804	2	4	81	1	0	0	0	0	0	0	0	1	3556	535	19	1		1	CLIP2	7	73814804	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	24207	73814804	85323859	6074	9690											
GTF2IRD1	9569	broad.mit.edu	37	7	73973325	73973325	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:73973325C>A	ENST00000476977.1	+	21	3933	c.2242C>A	c.(2242-2244)Ctg>Atg	p.L748M	GTF2IRD1_ENST00000424337.2_Missense_Mutation_p.L748M|GTF2IRD1_ENST00000455841.2_Missense_Mutation_p.L780M|GTF2IRD1_ENST00000489094.1_3'UTR|GTF2IRD1_ENST00000265755.3_Missense_Mutation_p.L763M			Q9UHL9	GT2D1_HUMAN	GTF2I repeat domain containing 1	763						nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(19)|ovary(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						CTCCCAGAACCTGGAGAGGAT	0.577													6	80					5.18039e-06	5.88187e-06	1	1	0	A	73973325	C	A	73973325	3	1	81	1	0	0	0	0	1	0	0	0	6909	680	24	4	2365	4	GTF2IRD1	7	73973325	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	158521	73973325	85165338	6075	9691											
NCF1	653361	broad.mit.edu	37	7	74191612	74191612	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:74191612G>T	ENST00000289473.4	+	2	142		c.e2-1		NCF1_ENST00000443956.3_Splice_Site	NM_000265.4	NP_000256.4	P14598	NCF1_HUMAN	neutrophil cytosolic factor 1						cell communication|cellular defense response|innate immune response|protein targeting to membrane|respiratory burst|superoxide anion generation	cytosol|NADPH oxidase complex|soluble fraction	electron carrier activity|GTP binding|GTPase activity|phosphatidylinositol binding|SH3 domain binding|superoxide-generating NADPH oxidase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|skin(3)	10						CTTTCCCCCAGGTGTACATGT	0.587													7	59					0.0477658	0.0487066	1	1	0	T	74191612	G	T	74191612	5	4	81	1	0	0	0	0	0	0	1	0	10263	1014	35	4	78	4	NCF1	7	74191612	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	218287	74191612	84947051	6076	9692											
STAG3L2	442582	broad.mit.edu	37	7	74301237	74301237	+	RNA	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:74301237G>T	ENST00000423186.1	-	0	499							P0CL84	ST3L2_HUMAN								nucleus	binding			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)|pancreas(1)	5						AATGCAGATAGCACGGATCTC	0.458													21	346					1.38267e-23	1.82264e-23	1	1	0	T	74301237	G	T	74301237	1	4	81	0	1	0	0	0	0	0	0	0	15301	971	34	4		4	STAG3L2	7	74301237	RNA	SNP	G	TCGA-DU-6392-01A-11D-1705-08	109625	74301237	84837426	6077	9693											
WBSCR16	81554	broad.mit.edu	37	7	74470046	74470046	+	Missense_Mutation	SNP	C	C	T	rs140481718	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:74470046C>T	ENST00000503250.2	-	9	1262	c.1193G>A	c.(1192-1194)cGc>cAc	p.R398H	WBSCR16_ENST00000329959.4_Missense_Mutation_p.R398H	NM_148842.2	NP_683682.1	Q96I51	WBS16_HUMAN	Williams-Beuren syndrome chromosome region 16	398										kidney(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	4						ACATCGGATGCGGGAAACCTG	0.542													23	12					0	0	1	0	0	T	74470046	C	T	74470046	3	4	81	1	0	0	0	0	1	0	0	0	17323	768	27	1	213	1	WBSCR16	7	74470046	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	168809	74470046	84668617	6078	9694											
POM121C	100101267	broad.mit.edu	37	7	75051127	75051127	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:75051127A>G	ENST00000453279.2	-	13	3272	c.2408T>C	c.(2407-2409)tTc>tCc	p.F803S	POM121C_ENST00000257665.5_Missense_Mutation_p.F1045S	NM_001099415.1	NP_001092885	A8CG34	P121C_HUMAN	POM121 transmembrane nucleoporin C	1045	Pore side (Potential).|Thr-rich.				mRNA transport|protein transport|transmembrane transport	endoplasmic reticulum membrane|nuclear membrane|nuclear pore	protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14						GGCTGCACCGAAGGAGAAGAC	0.657													15	44					0	0	1	0	0	G	75051127	A	G	75051127	3	3	81	1	0	0	0	0	1	0	0	0	12288	246	9	3	567	3	POM121C	7	75051127	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	581081	75051127	84087536	6079	9695											
HIP1	3092	broad.mit.edu	37	7	75184725	75184725	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:75184725G>A	ENST00000336926.6	-	19	1984	c.1958C>T	c.(1957-1959)tCt>tTt	p.S653F	HIP1_ENST00000434438.2_Missense_Mutation_p.S653F	NM_005338.5	NP_005329.3	O00291	HIP1_HUMAN	huntingtin interacting protein 1	653					activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	clathrin coated vesicle membrane|cytoskeleton|Golgi apparatus|membrane fraction|nucleus	actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton			breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						TGTACCTGCAGACCCAGCGCA	0.557			T	PDGFRB	CMML								12	51					0	0	1	0	0	A	75184725	G	A	75184725	3	1	81	1	0	0	0	0	1	0	0	0	7155	942	33	2	1207	2	HIP1	7	75184725	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	133598	75184725	83953938	6080	9696											
HIP1	3092	broad.mit.edu	37	7	75187036	75187036	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:75187036T>G	ENST00000336926.6	-	16	1529	c.1503A>C	c.(1501-1503)caA>caC	p.Q501H	HIP1_ENST00000434438.2_Missense_Mutation_p.Q501H	NM_005338.5	NP_005329.3	O00291	HIP1_HUMAN	huntingtin interacting protein 1	501					activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	clathrin coated vesicle membrane|cytoskeleton|Golgi apparatus|membrane fraction|nucleus	actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton			breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						CTACCTGGGCTTGTCTGGCCA	0.532			T	PDGFRB	CMML								8	152					0	0	1	0	0	G	75187036	T	G	75187036	3	3	81	1	0	0	0	0	1	0	0	0	7155	1606	56	5	1674	5	HIP1	7	75187036	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	2311	75187036	83951627	6081	9697											
CCL26	10344	broad.mit.edu	37	7	75399066	75399066	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:75399066C>T	ENST00000394905.2	-	4	487	c.230G>A	c.(229-231)aGg>aAg	p.R77K	CCL26_ENST00000005180.4_Missense_Mutation_p.R77K	NM_006072.4	NP_006063.1	Q9Y258	CCL26_HUMAN	chemokine (C-C motif) ligand 26	77					cell-cell signaling|chemotaxis|immune response|inflammatory response|positive regulation of actin filament polymerization|positive regulation of cell migration|positive regulation of endothelial cell proliferation|positive regulation of Rac GTPase activity|signal transduction	extracellular space	chemokine activity			lung(3)	3						CCATTTTTTCCTTGGATGGGT	0.438													4	62					0	0	1	0	0	T	75399066	C	T	75399066	3	4	81	1	0	0	0	0	1	0	0	0	2918	681	24	2	58	2	CCL26	7	75399066	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	212030	75399066	83739597	6082	9698											
CCL26	10344	broad.mit.edu	37	7	75401213	75401213	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:75401213G>A	ENST00000394905.2	-	3	439	c.182C>T	c.(181-183)gCt>gTt	p.A61V	CCL26_ENST00000005180.4_Missense_Mutation_p.A61V	NM_006072.4	NP_006063.1	Q9Y258	CCL26_HUMAN	chemokine (C-C motif) ligand 26	61					cell-cell signaling|chemotaxis|immune response|inflammatory response|positive regulation of actin filament polymerization|positive regulation of cell migration|positive regulation of endothelial cell proliferation|positive regulation of Rac GTPase activity|signal transduction	extracellular space	chemokine activity			lung(3)	3						TCACATCACAGCCCGCTGGGA	0.562													7	83					0	0	1	0	0	A	75401213	G	A	75401213	3	1	81	1	0	0	0	0	1	0	0	0	2918	971	34	2	110	2	CCL26	7	75401213	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2147	75401213	83737450	6083	9699											
TMEM120A	83862	broad.mit.edu	37	7	75621548	75621548	+	RNA	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:75621548C>A	ENST00000493111.2	-	0	230				TMEM120A_ENST00000338761.4_RNA			Q9BXJ8	T120A_HUMAN	transmembrane protein 120A							integral to membrane											GTGCGGCCCCCTCGGCCTCTG	0.602													9	124					7.03913e-09	8.42519e-09	1	1	0	A	75621548	C	A	75621548	1	1	81	0	1	0	0	0	0	0	0	0	16093	680	24	4		4	TMEM120A	7	75621548	RNA	SNP	C	TCGA-DU-6392-01A-11D-1705-08	220335	75621548	83517115	6084	9700											
STYXL1	51657	broad.mit.edu	37	7	75634663	75634663	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:75634663G>A	ENST00000451157.1	-	6	682	c.513C>T	c.(511-513)ggC>ggT	p.G171G	STYXL1_ENST00000360591.3_3'UTR|STYXL1_ENST00000359697.3_Silent_p.G171G|STYXL1_ENST00000340062.5_Silent_p.G75G|STYXL1_ENST00000248600.1_Silent_p.G171G|STYXL1_ENST00000431581.1_Silent_p.G171G			Q9Y6J8	STYL1_HUMAN	serine/threonine/tyrosine interacting-like 1	171	Tyrosine-protein phosphatase.				intracellular signal transduction|protein dephosphorylation	intracellular	protein binding|protein tyrosine/serine/threonine phosphatase activity			endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	10						GACTGAAATTGCCAACGAAGA	0.468													7	90					0	0	1	0	0	A	75634663	G	A	75634663	2	1	81	1	0	0	0	0	0	0	0	1	15417	1306	46	2		2	STYXL1	7	75634663	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	13115	75634663	83504000	6085	9701											
YWHAG	7532	broad.mit.edu	37	7	75958909	75958909	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:75958909G>A	ENST00000307630.3	-	2	951	c.729C>T	c.(727-729)ggC>ggT	p.G243G		NM_012479.3	NP_036611.2	P61981	1433G_HUMAN	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, gamma polypeptide	243					G2/M transition of mitotic cell cycle|regulation of neuron differentiation|regulation of signal transduction|regulation of synaptic plasticity	cytosol	insulin-like growth factor receptor binding|protein kinase C binding|protein kinase C inhibitor activity	p.G243G(1)		endometrium(2)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)	8						TGTTGCCTTCGCCGCCATCGT	0.597													15	9					0	0	1	0	0	A	75958909	G	A	75958909	2	1	81	1	0	0	0	0	0	0	0	1	17563	1074	38	1		1	YWHAG	7	75958909	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	324246	75958909	83179754	6086	9702											
SRCRB4D	136853	broad.mit.edu	37	7	76024571	76024571	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:76024571G>A	ENST00000275560.3	-	7	1292	c.945C>T	c.(943-945)tcC>tcT	p.S315S		NM_080744.1	NP_542782.1	Q8WTU2	SRB4D_HUMAN	scavenger receptor cysteine rich domain containing, group B (4 domains)	315						extracellular region|membrane	scavenger receptor activity			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(9)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21						GCTCTTTACCGGACGGATCTG	0.632													14	51					0	0	1	0	0	A	76024571	G	A	76024571	5	1	81	1	0	0	0	0	0	0	1	0	15193	1130	39	1	802	1	SRCRB4D	7	76024571	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	65662	76024571	83114092	6087	9703											
CCDC146	57639	broad.mit.edu	37	7	76871012	76871012	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:76871012C>T	ENST00000285871.4	+	4	371	c.244C>T	c.(244-246)Caa>Taa	p.Q82*	CCDC146_ENST00000431197.1_5'UTR	NM_020879.2	NP_065930.2	Q8IYE0	CC146_HUMAN	coiled-coil domain containing 146	82										breast(3)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	34		all_cancers(73;0.128)|all_lung(88;0.0986)|all_epithelial(88;0.163)|Myeloproliferative disorder(862;0.205)				ACCCAGCACACAAGAGTCAGA	0.483													18	42					0	0	1	0	0	T	76871012	C	T	76871012	4	4	81	1	0	0	0	0	0	1	0	0	2798	479	17	2	254	2	CCDC146	7	76871012	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	846441	76871012	82267651	6088	9704											
CCDC146	57639	broad.mit.edu	37	7	76912054	76912054	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:76912054G>A	ENST00000285871.4	+	15	2227	c.2100G>A	c.(2098-2100)ctG>ctA	p.L700L	CCDC146_ENST00000431197.1_Silent_p.L414L|CCDC146_ENST00000415740.2_3'UTR	NM_020879.2	NP_065930.2	Q8IYE0	CC146_HUMAN	coiled-coil domain containing 146	700										breast(3)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	34		all_cancers(73;0.128)|all_lung(88;0.0986)|all_epithelial(88;0.163)|Myeloproliferative disorder(862;0.205)				AGAAATTACTGCCAGCCAAGA	0.433													8	63					0	0	1	0	0	A	76912054	G	A	76912054	2	1	81	1	0	0	0	0	0	0	0	1	2798	1306	46	2		2	CCDC146	7	76912054	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	41042	76912054	82226609	6089	9705											
CCDC146	57639	broad.mit.edu	37	7	76922406	76922406	+	Silent	SNP	C	C	T	rs149134416		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:76922406C>T	ENST00000285871.4	+	18	2680	c.2553C>T	c.(2551-2553)tgC>tgT	p.C851C	CCDC146_ENST00000431197.1_Silent_p.C565C|CCDC146_ENST00000415740.2_3'UTR	NM_020879.2	NP_065930.2	Q8IYE0	CC146_HUMAN	coiled-coil domain containing 146	851										breast(3)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	34		all_cancers(73;0.128)|all_lung(88;0.0986)|all_epithelial(88;0.163)|Myeloproliferative disorder(862;0.205)				TCTTCACTTGCAATTCCAGGA	0.433													7	133					0	0	1	0	0	T	76922406	C	T	76922406	2	4	81	1	0	0	0	0	0	0	0	1	2798	718	25	2		2	CCDC146	7	76922406	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	10352	76922406	82216257	6090	9706											
PTPN12	5782	broad.mit.edu	37	7	77256149	77256149	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:77256149G>A	ENST00000248594.6	+	13	1425	c.1153G>A	c.(1153-1155)Gat>Aat	p.D385N	PTPN12_ENST00000415482.2_Missense_Mutation_p.D266N|PTPN12_ENST00000435495.2_Missense_Mutation_p.D255N	NM_002835.3	NP_002826.3	Q05209	PTN12_HUMAN	protein tyrosine phosphatase, non-receptor type 12	385	Interaction with TGFB1I1 (By similarity).					soluble fraction	non-membrane spanning protein tyrosine phosphatase activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(12)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	39						GCAGGACAATGATAGATACCA	0.458													35	27					0	0	1	0	0	A	77256149	G	A	77256149	3	1	81	1	0	0	0	0	1	0	0	0	12831	1290	45	2	1203	2	PTPN12	7	77256149	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	333743	77256149	81882514	6091	9707											
TMEM60	85025	broad.mit.edu	37	7	77423538	77423538	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:77423538G>A	ENST00000257663.3	-	2	529	c.153C>T	c.(151-153)gtC>gtT	p.V51V		NM_032936.3	NP_116325.1	Q9H2L4	TMM60_HUMAN	transmembrane protein 60	51						integral to membrane				endometrium(1)|large_intestine(1)|lung(2)	4						CAATCAGCAGGACAAGAAGGA	0.418													22	57					0	0	1	0	0	A	77423538	G	A	77423538	2	1	81	1	0	0	0	0	0	0	0	1	16247	1161	41	2		2	TMEM60	7	77423538	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	167389	77423538	81715125	6092	9708											
PHTF2	57157	broad.mit.edu	37	7	77569596	77569596	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:77569596G>A	ENST00000416283.2	+	12	1741	c.1615G>A	c.(1615-1617)Gta>Ata	p.V539I	PHTF2_ENST00000424760.1_Missense_Mutation_p.V535I|PHTF2_ENST00000422959.2_Missense_Mutation_p.V539I|PHTF2_ENST00000307305.8_Missense_Mutation_p.V535I|PHTF2_ENST00000248550.7_Missense_Mutation_p.V573I|PHTF2_ENST00000275575.7_Missense_Mutation_p.V535I	NM_001127357.1|NM_020432.4	NP_001120829.1|NP_065165.3	Q8N3S3	PHTF2_HUMAN	putative homeodomain transcription factor 2	573					regulation of transcription, DNA-dependent|transcription, DNA-dependent	endoplasmic reticulum|nucleus	DNA binding			endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	19						TTTGCTCTGTGTAGCAGAAAG	0.308													40	119					0	0	1	0	0	A	77569596	G	A	77569596	3	1	81	1	0	0	0	0	1	0	0	0	11911	1377	48	2	1715	2	PHTF2	7	77569596	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	146058	77569596	81569067	6093	9709											
PHTF2	57157	broad.mit.edu	37	7	77569880	77569880	+	Silent	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:77569880A>C	ENST00000416283.2	+	13	1800	c.1674A>C	c.(1672-1674)acA>acC	p.T558T	PHTF2_ENST00000422959.2_Silent_p.T558T|PHTF2_ENST00000307305.8_Silent_p.T554T|PHTF2_ENST00000248550.7_Silent_p.T592T|PHTF2_ENST00000275575.7_Silent_p.T554T	NM_001127357.1|NM_020432.4	NP_001120829.1|NP_065165.3	Q8N3S3	PHTF2_HUMAN	putative homeodomain transcription factor 2	592					regulation of transcription, DNA-dependent|transcription, DNA-dependent	endoplasmic reticulum|nucleus	DNA binding			endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	19						GACATTTAACATCTGCAAGGA	0.338													7	82					0	0	1	0	0	C	77569880	A	C	77569880	2	2	81	1	0	0	0	0	0	0	0	1	11911	204	8	4		4	PHTF2	7	77569880	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	284	77569880	81568783	6094	9710											
PHTF2	57157	broad.mit.edu	37	7	77579012	77579012	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:77579012G>A	ENST00000416283.2	+	15	2001	c.1875G>A	c.(1873-1875)gaG>gaA	p.E625E	PHTF2_ENST00000422959.2_Silent_p.E625E|PHTF2_ENST00000307305.8_Silent_p.E621E|PHTF2_ENST00000248550.7_Silent_p.E659E|PHTF2_ENST00000275575.7_Intron	NM_001127357.1|NM_020432.4	NP_001120829.1|NP_065165.3	Q8N3S3	PHTF2_HUMAN	putative homeodomain transcription factor 2	659					regulation of transcription, DNA-dependent|transcription, DNA-dependent	endoplasmic reticulum|nucleus	DNA binding			endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	19						ATGTACACGAGATCTTCCTTG	0.328													10	5					0	0	1	0	0	A	77579012	G	A	77579012	2	1	81	1	0	0	0	0	0	0	0	1	11911	933	33	2		2	PHTF2	7	77579012	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	9132	77579012	81559651	6095	9711											
MAGI2	9863	broad.mit.edu	37	7	77789561	77789561	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:77789561G>A	ENST00000354212.4	-	16	2879	c.2626C>T	c.(2626-2628)Cca>Tca	p.P876S	MAGI2_ENST00000522391.1_Missense_Mutation_p.P876S|MAGI2_ENST00000419488.1_Missense_Mutation_p.P862S	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	876						cell junction|synapse|synaptosome	phosphatase binding	p.P876S(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				ACAGAGCCTGGACTTCTCCCG	0.532													35	36					0	0	1	0	0	A	77789561	G	A	77789561	3	1	81	1	0	0	0	0	1	0	0	0	9241	1174	41	2	1769	2	MAGI2	7	77789561	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	210549	77789561	81349102	6096	9712											
CD36	948	broad.mit.edu	37	7	80276087	80276087	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:80276087G>A	ENST00000435819.1	+	6	715	c.31G>A	c.(31-33)Gct>Act	p.A11T	CD36_ENST00000432207.1_Missense_Mutation_p.A11T|CD36_ENST00000309881.7_Missense_Mutation_p.A11T|CD36_ENST00000441109.2_3'UTR|CD36_ENST00000433696.2_Missense_Mutation_p.A11T|CD36_ENST00000447544.2_Missense_Mutation_p.A11T|CD36_ENST00000544133.1_Missense_Mutation_p.A11T|CD36_ENST00000538969.1_Missense_Mutation_p.A11T|CD36_ENST00000534394.1_Intron|CD36_ENST00000394788.3_Missense_Mutation_p.A11T			P16671	CD36_HUMAN	CD36 molecule (thrombospondin receptor)	11					cell adhesion|cGMP-mediated signaling|cholesterol transport|lipid metabolic process|lipid storage|lipoprotein transport|low-density lipoprotein particle clearance|nitric oxide mediated signal transduction|plasma membrane long-chain fatty acid transport|platelet activation|platelet degranulation|positive regulation of cell-matrix adhesion|positive regulation of macrophage derived foam cell differentiation	integral to plasma membrane|membrane fraction|platelet alpha granule membrane	lipid binding|low-density lipoprotein receptor activity|thrombospondin receptor activity|transforming growth factor beta binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(10)|large_intestine(1)|lung(6)|ovary(1)	21						TGGGCTCATCGCTGGGGCTGT	0.453													73	52					0	0	1	0	0	A	80276087	G	A	80276087	3	1	81	1	0	0	0	0	1	0	0	0	3029	1087	38	1	33	1	CD36	7	80276087	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2486526	80276087	78862576	6097	9713											
CD36	948	broad.mit.edu	37	7	80292424	80292424	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:80292424G>A	ENST00000435819.1	+	9	1232	c.548G>A	c.(547-549)aGg>aAg	p.R183K	CD36_ENST00000432207.1_Missense_Mutation_p.R183K|CD36_ENST00000309881.7_Missense_Mutation_p.R183K|CD36_ENST00000433696.2_Missense_Mutation_p.R183K|CD36_ENST00000447544.2_Missense_Mutation_p.R183K|CD36_ENST00000544133.1_Missense_Mutation_p.R183K|CD36_ENST00000538969.1_Intron|CD36_ENST00000534394.1_Missense_Mutation_p.R107K|CD36_ENST00000394788.3_Missense_Mutation_p.R183K			P16671	CD36_HUMAN	CD36 molecule (thrombospondin receptor)	183					cell adhesion|cGMP-mediated signaling|cholesterol transport|lipid metabolic process|lipid storage|lipoprotein transport|low-density lipoprotein particle clearance|nitric oxide mediated signal transduction|plasma membrane long-chain fatty acid transport|platelet activation|platelet degranulation|positive regulation of cell-matrix adhesion|positive regulation of macrophage derived foam cell differentiation	integral to plasma membrane|membrane fraction|platelet alpha granule membrane	lipid binding|low-density lipoprotein receptor activity|thrombospondin receptor activity|transforming growth factor beta binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(10)|large_intestine(1)|lung(6)|ovary(1)	21						TGGGGCTATAGGGATCCATTT	0.338													35	112					0	0	1	0	0	A	80292424	G	A	80292424	3	1	81	1	0	0	0	0	1	0	0	0	3029	1000	35	2	562	2	CD36	7	80292424	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	16337	80292424	78846239	6098	9714											
CACNA2D1	781	broad.mit.edu	37	7	81588629	81588629	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:81588629G>A	ENST00000356860.3	-	38	3459	c.3121C>T	c.(3121-3123)Cga>Tga	p.R1041*	CACNA2D1_ENST00000535308.1_Nonsense_Mutation_p.R253*|CACNA2D1_ENST00000356253.5_Nonsense_Mutation_p.R1053*	NM_000722.2	NP_000713.2	P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	1053						voltage-gated calcium channel complex	metal ion binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)	GGCCCTTTTCGGTATCTGGGT	0.358													54	45					0	0	1	0	0	A	81588629	G	A	81588629	4	1	81	1	0	0	0	0	0	1	0	0	2566	1124	39	1	162	1	CACNA2D1	7	81588629	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1296205	81588629	77550034	6099	9715											
CACNA2D1	781	broad.mit.edu	37	7	81746384	81746384	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:81746384T>C	ENST00000356860.3	-	6	840	c.502A>G	c.(502-504)Att>Gtt	p.I168V	CACNA2D1_ENST00000423588.1_Missense_Mutation_p.I168V|CACNA2D1_ENST00000356253.5_Missense_Mutation_p.I168V	NM_000722.2	NP_000713.2	P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	168						voltage-gated calcium channel complex	metal ion binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)	TCAGTAGGAATATGGACTGCT	0.418													90	76					0	0	1	0	0	C	81746384	T	C	81746384	3	2	81	1	0	0	0	0	1	0	0	0	2566	1406	49	3	2909	3	CACNA2D1	7	81746384	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	157755	81746384	77392279	6100	9716											
PCLO	27445	broad.mit.edu	37	7	82545693	82545693	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:82545693G>T	ENST00000333891.9	-	7	11946	c.11609C>A	c.(11608-11610)cCa>cAa	p.P3870Q	PCLO_ENST00000437081.1_Missense_Mutation_p.P590Q|PCLO_ENST00000423517.2_Missense_Mutation_p.P3870Q	NM_033026.5	NP_149015.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein		Gln-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TTGGGTTTGTGGTGGTATAAA	0.478													24	499					1.5548e-18	2.01812e-18	1	1	0	T	82545693	G	T	82545693	3	4	81	1	0	0	0	0	1	0	0	0	11630	1348	47	5	3912	5	PCLO	7	82545693	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	799309	82545693	76592970	6101	9717											
PCLO	27445	broad.mit.edu	37	7	82764321	82764321	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:82764321C>T	ENST00000333891.9	-	3	2882	c.2545G>A	c.(2545-2547)Gta>Ata	p.V849I	PCLO_ENST00000423517.2_Missense_Mutation_p.V849I	NM_033026.5	NP_149015.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein		Pro-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TTCTTTTGTACGGGGTCAACT	0.453													76	213					0	0	1	0	0	T	82764321	C	T	82764321	3	4	81	1	0	0	0	0	1	0	0	0	11630	536	19	1	12992	1	PCLO	7	82764321	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	218628	82764321	76374342	6102	9718											
PCLO	27445	broad.mit.edu	37	7	82764401	82764401	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:82764401G>T	ENST00000333891.9	-	3	2802	c.2465C>A	c.(2464-2466)cCt>cAt	p.P822H	PCLO_ENST00000423517.2_Missense_Mutation_p.P822H	NM_033026.5	NP_149015.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein		Pro-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TGCAGGTCGAGGTATGGCTTT	0.443													17	209					1.99824e-07	2.33645e-07	1	1	0	T	82764401	G	T	82764401	3	4	81	1	0	0	0	0	1	0	0	0	11630	1000	35	4	13072	4	PCLO	7	82764401	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	80	82764401	76374262	6103	9719											
PCLO	27445	broad.mit.edu	37	7	82784980	82784980	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:82784980G>T	ENST00000333891.9	-	2	1314	c.977C>A	c.(976-978)cCt>cAt	p.P326H	PCLO_ENST00000423517.2_Missense_Mutation_p.P326H	NM_033026.5	NP_149015.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein		Gln-rich.|Pro-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TGCAGGCCCAGGCTGTGATTT	0.552													10	38					4.68919e-08	5.54405e-08	1	1	0	T	82784980	G	T	82784980	3	4	81	1	0	0	0	0	1	0	0	0	11630	1000	35	4	14564	4	PCLO	7	82784980	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	20579	82784980	76353683	6104	9720											
SEMA3E	9723	broad.mit.edu	37	7	83014660	83014660	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:83014660C>A	ENST00000307792.3	-	16	2292	c.1825G>T	c.(1825-1827)Gcg>Tcg	p.A609S	SEMA3E_ENST00000427262.1_Missense_Mutation_p.A549S	NM_012431.2	NP_036563.1	O15041	SEM3E_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E	609	Ig-like C2-type.				axon guidance	extracellular space|membrane	receptor activity			breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				ATAACTTTCGCTTGTAAAGAT	0.398													13	193					2.32078e-09	2.80257e-09	1	1	0	A	83014660	C	A	83014660	3	1	81	1	0	0	0	0	1	0	0	0	14082	797	28	4	510	4	SEMA3E	7	83014660	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	229680	83014660	76124003	6105	9721											
SEMA3E	9723	broad.mit.edu	37	7	83032043	83032043	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:83032043G>A	ENST00000307792.3	-	10	1515	c.1048C>T	c.(1048-1050)Cgg>Tgg	p.R350W	SEMA3E_ENST00000427262.1_Missense_Mutation_p.R290W	NM_012431.2	NP_036563.1	O15041	SEM3E_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E	350	Sema.				axon guidance	extracellular space|membrane	receptor activity			breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				AAGGCTGCCCGAATGCTAGAC	0.408													23	44					0	0	1	0	0	A	83032043	G	A	83032043	3	1	81	1	0	0	0	0	1	0	0	0	14082	1057	37	1	1311	1	SEMA3E	7	83032043	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	17383	83032043	76106620	6106	9722											
SEMA3E	9723	broad.mit.edu	37	7	83119465	83119465	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:83119465G>T	ENST00000307792.3	-	2	708	c.241C>A	c.(241-243)Ctc>Atc	p.L81I	SEMA3E_ENST00000427262.1_Missense_Mutation_p.L21I	NM_012431.2	NP_036563.1	O15041	SEM3E_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E	81	Sema.				axon guidance	extracellular space|membrane	receptor activity			breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				TCCAAGCTGAGGGAATATACA	0.403													5	70					2.0095e-06	2.30238e-06	1	1	0	T	83119465	G	T	83119465	3	4	81	1	0	0	0	0	1	0	0	0	14082	1000	35	4	2150	4	SEMA3E	7	83119465	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	87422	83119465	76019198	6107	9723											
SEMA3A	10371	broad.mit.edu	37	7	83592532	83592532	+	Nonsense_Mutation	SNP	G	G	A	rs144701441		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:83592532G>A	ENST00000265362.4	-	16	2163	c.1849C>T	c.(1849-1851)Cga>Tga	p.R617*	SEMA3A_ENST00000436949.1_Nonsense_Mutation_p.R617*	NM_006080.2	NP_006071.1	Q14563	SEM3A_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A		Ig-like C2-type.				axon guidance	extracellular region|membrane	receptor activity			breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						TCTTCTTTTCGCTCTTCATTT	0.388													47	133					0	0	1	0	0	A	83592532	G	A	83592532	4	1	81	1	0	0	0	0	0	1	0	0	14078	1095	38	1	474	1	SEMA3A	7	83592532	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	473067	83592532	75546131	6108	9724											
SEMA3A	10371	broad.mit.edu	37	7	83592606	83592606	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:83592606C>A	ENST00000265362.4	-	16	2089	c.1775G>T	c.(1774-1776)aGc>aTc	p.S592I	SEMA3A_ENST00000436949.1_Missense_Mutation_p.S592I	NM_006080.2	NP_006071.1	Q14563	SEM3A_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A		Ig-like C2-type.				axon guidance	extracellular region|membrane	receptor activity			breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						CAAAAATGTGCTACTATTCTC	0.438													9	125					0.307466	0.308658	1	1	0	A	83592606	C	A	83592606	3	1	81	1	0	0	0	0	1	0	0	0	14078	797	28	4	548	4	SEMA3A	7	83592606	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	74	83592606	75546057	6109	9725											
SEMA3A	10371	broad.mit.edu	37	7	83610649	83610649	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:83610649G>T	ENST00000265362.4	-	14	1954	c.1640C>A	c.(1639-1641)cCc>cAc	p.P547H	SEMA3A_ENST00000436949.1_Missense_Mutation_p.P547H	NM_006080.2	NP_006071.1	Q14563	SEM3A_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A						axon guidance	extracellular region|membrane	receptor activity			breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						CTTTGCAGTGGGAAAATAGCG	0.408													11	28					2.80697e-09	3.37799e-09	1	1	0	T	83610649	G	T	83610649	3	4	81	1	0	0	0	0	1	0	0	0	14078	1232	43	5	691	5	SEMA3A	7	83610649	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	18043	83610649	75528014	6110	9726											
SEMA3D	223117	broad.mit.edu	37	7	84628908	84628908	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:84628908C>T	ENST00000284136.6	-	17	2225	c.2182G>A	c.(2182-2184)Gac>Aac	p.D728N	SEMA3D_ENST00000484038.1_5'UTR	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D	728					cell differentiation|nervous system development	extracellular region|membrane	receptor activity			NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						CAGTACTGGTCGAGGCTGAAG	0.507													21	69					0	0	1	0	0	T	84628908	C	T	84628908	3	4	81	1	0	0	0	0	1	0	0	0	14081	884	31	1	155	1	SEMA3D	7	84628908	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1018259	84628908	74509755	6111	9727											
SEMA3D	223117	broad.mit.edu	37	7	84636118	84636118	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:84636118C>A	ENST00000284136.6	-	16	1951	c.1908G>T	c.(1906-1908)gaG>gaT	p.E636D	SEMA3D_ENST00000484038.1_5'UTR	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D	636	Ig-like C2-type.				cell differentiation|nervous system development	extracellular region|membrane	receptor activity			NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						AACAGCTTACCTCCTCTCGAT	0.373													14	296					5.01169e-05	5.55051e-05	1	1	0	A	84636118	C	A	84636118	5	1	81	1	0	0	0	0	0	0	1	0	14081	695	24	4	433	4	SEMA3D	7	84636118	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	7210	84636118	74502545	6112	9728											
SEMA3D	223117	broad.mit.edu	37	7	84666263	84666263	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:84666263C>T	ENST00000284136.6	-	10	1176	c.1133G>A	c.(1132-1134)aGt>aAt	p.S378N	SEMA3D_ENST00000484038.1_5'UTR	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D	378	Sema.				cell differentiation|nervous system development	extracellular region|membrane	receptor activity			NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						ATGGTCTGCACTTTCCTTATG	0.403													11	116					0	0	1	0	0	T	84666263	C	T	84666263	3	4	81	1	0	0	0	0	1	0	0	0	14081	565	20	2	1232	2	SEMA3D	7	84666263	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	30145	84666263	74472400	6113	9729											
GRM3	2913	broad.mit.edu	37	7	86394808	86394808	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:86394808C>A	ENST00000361669.2	+	2	1446	c.347C>A	c.(346-348)tCt>tAt	p.S116Y	GRM3_ENST00000439827.1_Missense_Mutation_p.S116Y|GRM3_ENST00000536043.1_Intron|GRM3_ENST00000546348.1_Intron|GRM3_ENST00000394720.2_Missense_Mutation_p.S114Y	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	116					synaptic transmission	integral to plasma membrane				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	GTCAGGGCATCTTTGACAAAA	0.443													82	145					2.43516e-34	3.25839e-34	1	1	0	A	86394808	C	A	86394808	3	1	81	1	0	0	0	0	1	0	0	0	6839	913	32	4	349	4	GRM3	7	86394808	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1728545	86394808	72743855	6114	9730											
GRM3	2913	broad.mit.edu	37	7	86394888	86394888	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:86394888G>A	ENST00000361669.2	+	2	1526	c.427G>A	c.(427-429)Gca>Aca	p.A143T	GRM3_ENST00000439827.1_Missense_Mutation_p.A143T|GRM3_ENST00000536043.1_Intron|GRM3_ENST00000546348.1_Intron|GRM3_ENST00000394720.2_Missense_Mutation_p.A141T	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	143					synaptic transmission	integral to plasma membrane				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	ACTTCTCATTGCAGGGGTCAT	0.428													8	110					0	0	1	0	0	A	86394888	G	A	86394888	3	1	81	1	0	0	0	0	1	0	0	0	6839	1319	46	2	429	2	GRM3	7	86394888	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	80	86394888	72743775	6115	9731											
GRM3	2913	broad.mit.edu	37	7	86468230	86468230	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:86468230A>G	ENST00000361669.2	+	4	2499	c.1400A>G	c.(1399-1401)aAc>aGc	p.N467S	GRM3_ENST00000439827.1_Intron|GRM3_ENST00000536043.1_Missense_Mutation_p.N339S|GRM3_ENST00000546348.1_Missense_Mutation_p.N59S|GRM3_ENST00000394720.2_Intron	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	467					synaptic transmission	integral to plasma membrane				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	GGGCGATACAACGTGTTCAAT	0.403													23	19					0	0	1	0	0	G	86468230	A	G	86468230	3	3	81	1	0	0	0	0	1	0	0	0	6839	43	2	3	1410	3	GRM3	7	86468230	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	73342	86468230	72670433	6116	9732											
DMTF1	9988	broad.mit.edu	37	7	86803975	86803975	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:86803975G>A	ENST00000394703.5	+	9	1072	c.509G>A	c.(508-510)cGc>cAc	p.R170H	DMTF1_ENST00000414194.2_5'UTR|DMTF1_ENST00000413276.2_Missense_Mutation_p.R170H|DMTF1_ENST00000432937.2_Missense_Mutation_p.R82H|DMTF1_ENST00000394702.3_Missense_Mutation_p.R170H|DMTF1_ENST00000331242.7_Missense_Mutation_p.R170H|DMTF1_ENST00000411766.2_Missense_Mutation_p.R129H	NM_021145.3	NP_066968.3	Q9Y222	DMTF1_HUMAN	cyclin D binding myb-like transcription factor 1	170	Interaction with CCND2 (By similarity).|Required for DNA-binding (By similarity).|Required for transcriptional activation (By similarity).				cell cycle	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)	16	Esophageal squamous(14;0.0058)					AATATTGAACGCTATCTTAAG	0.303													39	42					0	0	1	0	0	A	86803975	G	A	86803975	3	1	81	1	0	0	0	0	1	0	0	0	4620	1087	38	1	527	1	DMTF1	7	86803975	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	335745	86803975	72334688	6117	9733											
DMTF1	9988	broad.mit.edu	37	7	86823402	86823402	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:86823402G>T	ENST00000414194.2	+	16	3006	c.1214G>T	c.(1213-1215)aGt>aTt	p.S405I	DMTF1_ENST00000413276.2_Missense_Mutation_p.S601I|DMTF1_ENST00000394703.5_Missense_Mutation_p.S671I|DMTF1_ENST00000432937.2_Missense_Mutation_p.S583I|DMTF1_ENST00000331242.7_Missense_Mutation_p.S671I			Q9Y222	DMTF1_HUMAN	cyclin D binding myb-like transcription factor 1	671	Interaction with CCND1, CCND2 and CCND3 (By similarity).|Required for DNA-binding (By similarity).				cell cycle	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)	16	Esophageal squamous(14;0.0058)					GATTTAGCCAGTGCTTATGTT	0.398													27	108					7.38237e-10	8.97233e-10	1	1	0	T	86823402	G	T	86823402	3	4	81	1	0	0	0	0	1	0	0	0	4620	1029	36	4	2066	4	DMTF1	7	86823402	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	19427	86823402	72315261	6118	9734											
DMTF1	9988	broad.mit.edu	37	7	86824052	86824052	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:86824052delA	ENST00000414194.2	+	17	3075	c.1283delA	c.(1282-1284)gaafs	p.E428fs	DMTF1_ENST00000394703.5_Frame_Shift_Del_p.E694fs|DMTF1_ENST00000413276.2_Frame_Shift_Del_p.E624fs|DMTF1_ENST00000331242.7_Frame_Shift_Del_p.E694fs|DMTF1_ENST00000432937.2_Frame_Shift_Del_p.E606fs			Q9Y222	DMTF1_HUMAN	cyclin D binding myb-like transcription factor 1	694	Interaction with CCND1, CCND2 and CCND3 (By similarity).|Required for DNA-binding (By similarity).				cell cycle	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)	16	Esophageal squamous(14;0.0058)					ATTGATGATGAAACAATACTT	0.333													7	82	---	---	---	---						-	86824052	A	-	86824052	7	5	81	1	0	1	0	1	0	0	0	0	4620	246	9	0	2139	0	DMTF1	7	86824052	Frame_Shift_Del	DEL	A	TCGA-DU-6392-01A-11D-1705-08	650	86824052	72314611	6119	9735											
ABCB4	5244	broad.mit.edu	37	7	87043000	87043000	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:87043000C>T	ENST00000265723.4	-	22	2827	c.2716G>A	c.(2716-2718)Gtt>Att	p.V906I	ABCB4_ENST00000453593.1_Missense_Mutation_p.V906I|ABCB4_ENST00000359206.3_Missense_Mutation_p.V906I|ABCB4_ENST00000545634.1_Missense_Mutation_p.V906I|ABCB4_ENST00000358400.3_Missense_Mutation_p.V906I	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	906	ABC transmembrane type-1 2.				cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity			breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)					AAAGACACAACTGTCCTAATA	0.343													42	65					0	0	1	0	0	T	87043000	C	T	87043000	3	4	81	1	0	0	0	0	1	0	0	0	43	565	20	2	1172	2	ABCB4	7	87043000	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	218948	87043000	72095663	6120	9736											
ABCB4	5244	broad.mit.edu	37	7	87069024	87069024	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:87069024C>T	ENST00000265723.4	-	14	1801	c.1690G>A	c.(1690-1692)Gac>Aac	p.D564N	ABCB4_ENST00000453593.1_Missense_Mutation_p.D564N|ABCB4_ENST00000359206.3_Missense_Mutation_p.D564N|ABCB4_ENST00000545634.1_Missense_Mutation_p.D564N|ABCB4_ENST00000358400.3_Missense_Mutation_p.D564N	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	564	ABC transporter 1.		D -> G (in PFIC3).		cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity			breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)					CTTTCTGTGTCCAATGCTGAC	0.527													61	38					0	0	1	0	0	T	87069024	C	T	87069024	3	4	81	1	0	0	0	0	1	0	0	0	43	855	30	2	2230	2	ABCB4	7	87069024	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	26024	87069024	72069639	6121	9737											
ABCB1	5243	broad.mit.edu	37	7	87180053	87180053	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:87180053C>A	ENST00000265724.3	-	11	1518	c.1101G>T	c.(1099-1101)aaG>aaT	p.K367N	ABCB1_ENST00000543898.1_Missense_Mutation_p.K303N	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	367					G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	TATCAATTATCTTGAAGATTT	0.368													35	36					3.86903e-22	5.07873e-22	1	1	0	A	87180053	C	A	87180053	3	1	81	1	0	0	0	0	1	0	0	0	40	912	32	4	2817	4	ABCB1	7	87180053	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	111029	87180053	71958610	6122	9738											
RUNDC3B	154661	broad.mit.edu	37	7	87339908	87339908	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:87339908C>T	ENST00000338056.3	+	5	857	c.446C>T	c.(445-447)gCa>gTa	p.A149V	RUNDC3B_ENST00000394654.3_Missense_Mutation_p.A132V|RUNDC3B_ENST00000496000.1_3'UTR|RUNDC3B_ENST00000493037.1_Missense_Mutation_p.A132V|ABCB1_ENST00000265724.3_Intron	NM_001134405.1|NM_138290.2	NP_001127877.1|NP_612147.1	Q96NL0	RUN3B_HUMAN	RUN domain containing 3B	149	RUN.									breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(2)	26	Esophageal squamous(14;0.00164)					ATCAGAGTAGCACTCATGGAA	0.289													7	37					0	0	1	0	0	T	87339908	C	T	87339908	3	4	81	1	0	0	0	0	1	0	0	0	13797	710	25	2	464	2	RUNDC3B	7	87339908	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	159855	87339908	71798755	6123	9739											
SLC25A40	55972	broad.mit.edu	37	7	87476283	87476283	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:87476283A>G	ENST00000341119.5	-	8	958	c.612T>C	c.(610-612)ctT>ctC	p.L204L		NM_018843.3	NP_061331.2	Q8TBP6	S2540_HUMAN	solute carrier family 25, member 40	204					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	17	Esophageal squamous(14;0.00202)					GTACATCTCTAAGAACAGTAG	0.378													7	154					0	0	1	0	0	G	87476283	A	G	87476283	2	3	81	1	0	0	0	0	0	0	0	1	14560	349	13	3		3	SLC25A40	7	87476283	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	136375	87476283	71662380	6124	9740											
SLC25A40	55972	broad.mit.edu	37	7	87476301	87476301	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:87476301G>A	ENST00000341119.5	-	8	940	c.594C>T	c.(592-594)ggC>ggT	p.G198G		NM_018843.3	NP_061331.2	Q8TBP6	S2540_HUMAN	solute carrier family 25, member 40	198					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	17	Esophageal squamous(14;0.00202)					TAGGAGCCCAGCCCCTCCAAA	0.388													98	94					0	0	1	0	0	A	87476301	G	A	87476301	2	1	81	1	0	0	0	0	0	0	0	1	14560	958	34	2		2	SLC25A40	7	87476301	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	18	87476301	71662362	6125	9741											
DBF4	10926	broad.mit.edu	37	7	87526619	87526620	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:87526619_87526620insA	ENST00000265728.1	+	8	1149_1150	c.645_646insA	c.(646-648)aaafs	p.K216fs		NM_006716.3	NP_006707.1	Q9UBU7	DBF4A_HUMAN	DBF4 homolog (S. cerevisiae)	216					cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle	nucleoplasm	enzyme activator activity|nucleic acid binding|protein binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|skin(3)	28	Esophageal squamous(14;0.00202)	Breast(660;0.0334)				CAGGAAGACTCAAAAAGCCTTT	0.317													7	451	---	---	---	---						A	87526620	-	A	87526619	7	5	81	1	0	1	1	0	0	0	0	0	4272	813	29	0	675	0	DBF4	7	87526619	Frame_Shift_Ins	INS	-	TCGA-DU-6392-01A-11D-1705-08	50318	87526619	71612044	6126	9742											
DBF4	10926	broad.mit.edu	37	7	87536520	87536520	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:87536520G>T	ENST00000265728.1	+	12	1571	c.1067G>T	c.(1066-1068)gGa>gTa	p.G356V		NM_006716.3	NP_006707.1	Q9UBU7	DBF4A_HUMAN	DBF4 homolog (S. cerevisiae)	356					cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle	nucleoplasm	enzyme activator activity|nucleic acid binding|protein binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|skin(3)	28	Esophageal squamous(14;0.00202)	Breast(660;0.0334)				TACAGTGTTGGATCCCTTTCT	0.299													20	67					2.4624e-09	2.97042e-09	1	1	0	T	87536520	G	T	87536520	3	4	81	1	0	0	0	0	1	0	0	0	4272	1174	41	5	1113	5	DBF4	7	87536520	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	9901	87536520	71602143	6127	9743											
DBF4	10926	broad.mit.edu	37	7	87536622	87536622	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:87536622C>T	ENST00000265728.1	+	12	1673	c.1169C>T	c.(1168-1170)aCa>aTa	p.T390I		NM_006716.3	NP_006707.1	Q9UBU7	DBF4A_HUMAN	DBF4 homolog (S. cerevisiae)	390					cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle	nucleoplasm	enzyme activator activity|nucleic acid binding|protein binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|skin(3)	28	Esophageal squamous(14;0.00202)	Breast(660;0.0334)				GAAGATGATACAACAGTGAAG	0.403													15	143					0	0	1	0	0	T	87536622	C	T	87536622	3	4	81	1	0	0	0	0	1	0	0	0	4272	478	17	2	1215	2	DBF4	7	87536622	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	102	87536622	71602041	6128	9744											
DBF4	10926	broad.mit.edu	37	7	87536982	87536982	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:87536982C>A	ENST00000265728.1	+	12	2033	c.1529C>A	c.(1528-1530)aCt>aAt	p.T510N		NM_006716.3	NP_006707.1	Q9UBU7	DBF4A_HUMAN	DBF4 homolog (S. cerevisiae)	510					cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle	nucleoplasm	enzyme activator activity|nucleic acid binding|protein binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|skin(3)	28	Esophageal squamous(14;0.00202)	Breast(660;0.0334)				AAGTCAGATACTGTGCTTTTT	0.363													29	92					2.12542e-12	2.65769e-12	1	1	0	A	87536982	C	A	87536982	3	1	81	1	0	0	0	0	1	0	0	0	4272	565	20	4	1575	4	DBF4	7	87536982	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	360	87536982	71601681	6129	9745											
ADAM22	53616	broad.mit.edu	37	7	87795162	87795162	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:87795162C>T	ENST00000398204.4	+	24	2415	c.2092C>T	c.(2092-2094)Ctg>Ttg	p.L698L	ADAM22_ENST00000398209.3_Silent_p.L698L|ADAM22_ENST00000315984.7_Silent_p.L698L|ADAM22_ENST00000398201.4_Silent_p.L698L|ADAM22_ENST00000265727.7_Silent_p.L698L	NM_016351.4|NM_021723.3	NP_057435.2|NP_068369.1	Q9P0K1	ADA22_HUMAN	ADAM metallopeptidase domain 22	698	EGF-like.				cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis	integral to membrane	integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding			endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3)	53	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)			CAGTAATGAGCTGAAGTGTGT	0.378													5	66					0	0	1	0	0	T	87795162	C	T	87795162	2	4	81	1	0	0	0	0	0	0	0	1	243	796	28	2		2	ADAM22	7	87795162	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	258180	87795162	71343501	6130	9746											
ADAM22	53616	broad.mit.edu	37	7	87822530	87822530	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:87822530G>T	ENST00000398204.4	+	29	2891	c.2568G>T	c.(2566-2568)aaG>aaT	p.K856N	ADAM22_ENST00000398209.3_Missense_Mutation_p.K885N|ADAM22_ENST00000315984.7_Missense_Mutation_p.K885N|ADAM22_ENST00000265727.7_Missense_Mutation_p.K892N	NM_016351.4|NM_021723.3	NP_057435.2|NP_068369.1	Q9P0K1	ADA22_HUMAN	ADAM metallopeptidase domain 22	892					cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis	integral to membrane	integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding			endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3)	53	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)			ATGAGGACAAGAAAGTGAACC	0.428													11	43					6.40141e-05	7.07494e-05	1	1	0	T	87822530	G	T	87822530	3	4	81	1	0	0	0	0	1	0	0	0	243	933	33	4	2889	4	ADAM22	7	87822530	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	27368	87822530	71316133	6131	9747											
ZNF804B	219578	broad.mit.edu	37	7	88965809	88965809	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:88965809G>T	ENST00000333190.4	+	4	4122	c.3513G>T	c.(3511-3513)aaG>aaT	p.K1171N		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	1171						intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			ATATGCAGAAGCAACTCCTAT	0.468										HNSCC(36;0.09)			6	76					5.9392e-07	6.87481e-07	1	1	0	T	88965809	G	T	88965809	3	4	81	1	0	0	0	0	1	0	0	0	18220	962	34	4	3527	4	ZNF804B	7	88965809	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1143279	88965809	70172854	6132	9748											
C7orf63	79846	broad.mit.edu	37	7	89909125	89909125	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:89909125G>T	ENST00000389297.4	+	12	1541	c.1290G>T	c.(1288-1290)gtG>gtT	p.V430V	C7orf63_ENST00000316089.8_Silent_p.V430V|C7orf63_ENST00000497910.1_Silent_p.V412V	NM_001039706.2|NM_001160138.1	NP_001034795.2|NP_001153610.1	A5D8W1	CG063_HUMAN	chromosome 7 open reading frame 63	430							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|prostate(3)	37						TGTCATCAGTGGCTCCTTTAT	0.418											OREG0003793	type=REGULATORY REGION|Gene=AK024715|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	10	140					0.000442599	0.000477972	1	1	0	T	89909125	G	T	89909125	2	4	81	1	0	0	0	0	0	0	0	1	2425	1335	47	5		5	C7orf63	7	89909125	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	943316	89909125	69229538	6133	9749											
C7orf63	79846	broad.mit.edu	37	7	89915682	89915682	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:89915682C>A	ENST00000389297.4	+	14	1876	c.1625C>A	c.(1624-1626)tCt>tAt	p.S542Y	C7orf63_ENST00000316089.8_Missense_Mutation_p.S542Y|C7orf63_ENST00000497910.1_Missense_Mutation_p.S524Y	NM_001039706.2|NM_001160138.1	NP_001034795.2|NP_001153610.1	A5D8W1	CG063_HUMAN	chromosome 7 open reading frame 63	542							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|prostate(3)	37						CTTATCCTATCTGGCCTTTGT	0.348													26	78					4.59853e-10	5.59907e-10	1	1	0	A	89915682	C	A	89915682	3	1	81	1	0	0	0	0	1	0	0	0	2425	913	32	4	1679	4	C7orf63	7	89915682	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	6557	89915682	69222981	6134	9750											
C7orf63	79846	broad.mit.edu	37	7	89936342	89936342	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:89936342C>A	ENST00000389297.4	+	20	2644	c.2393C>A	c.(2392-2394)tCt>tAt	p.S798Y	C7orf63_ENST00000316089.8_Missense_Mutation_p.S752Y|C7orf63_ENST00000497910.1_Missense_Mutation_p.S780Y	NM_001039706.2|NM_001160138.1	NP_001034795.2|NP_001153610.1	A5D8W1	CG063_HUMAN	chromosome 7 open reading frame 63	798							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|prostate(3)	37						ATGGTTGCTTCTCTGCAAAGT	0.338													22	20					2.21704e-12	2.77053e-12	1	1	0	A	89936342	C	A	89936342	3	1	81	1	0	0	0	0	1	0	0	0	2425	913	32	4	2471	4	C7orf63	7	89936342	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	20660	89936342	69202321	6135	9751											
GTPBP10	85865	broad.mit.edu	37	7	90012310	90012310	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:90012310C>T	ENST00000222511.6	+	9	884	c.818C>T	c.(817-819)gCa>gTa	p.A273V	GTPBP10_ENST00000257659.8_Missense_Mutation_p.A194V	NM_033107.3	NP_149098.2	A4D1E9	GTPBA_HUMAN	GTP-binding protein 10 (putative)	273					ribosome biogenesis	chromosome|nucleolus	GTP binding|GTPase activity|magnesium ion binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(4)	10						ACAAAACCTGCACTCTTGGCA	0.353													13	131					0	0	1	0	0	T	90012310	C	T	90012310	3	4	81	1	0	0	0	0	1	0	0	0	6920	710	25	2	852	2	GTPBP10	7	90012310	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	75968	90012310	69126353	6136	9752											
CDK14	5218	broad.mit.edu	37	7	90613515	90613515	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:90613515G>T	ENST00000406263.1	+	9	1304	c.862G>T	c.(862-864)Gga>Tga	p.G288*	CDK14_ENST00000265741.3_Nonsense_Mutation_p.G316*|CDK14_ENST00000436577.2_Nonsense_Mutation_p.G205*|CDK14_ENST00000380050.3_Nonsense_Mutation_p.G334*			O94921	CDK14_HUMAN	cyclin-dependent kinase 14	334	Protein kinase.				cell division|G2/M transition of mitotic cell cycle|regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytoplasmic cyclin-dependent protein kinase holoenzyme complex|nucleus|plasma membrane	ATP binding|cyclin binding|cyclin-dependent protein kinase activity			breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(12)|ovary(1)|skin(4)	32						TGCTTTTCCAGGAATGAAAGA	0.353													32	99					2.20262e-25	2.91474e-25	1	1	0	T	90613515	G	T	90613515	4	4	81	1	0	0	0	0	0	1	0	0	3152	1001	35	4	980	4	CDK14	7	90613515	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	601205	90613515	68525148	6137	9753											
FZD1	8321	broad.mit.edu	37	7	90896036	90896036	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:90896036G>A	ENST00000287934.2	+	1	2254	c.1841G>A	c.(1840-1842)gGc>gAc	p.G614D		NM_003505.1	NP_003496.1	Q9UP38	FZD1_HUMAN	frizzled family receptor 1	614					autocrine signaling|axonogenesis|brain development|canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|embryo development|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|lung alveolus development|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to drug|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cell surface|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|receptor binding|Wnt receptor activity|Wnt-protein binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24	all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215)		STAD - Stomach adenocarcinoma(171;0.0134)			CTGATCGTGGGCATCACGTCG	0.607													38	32					0	0	1	0	0	A	90896036	G	A	90896036	3	1	81	1	0	0	0	0	1	0	0	0	6163	1203	42	2	1843	2	FZD1	7	90896036	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	282521	90896036	68242627	6138	9754											
AKAP9	10142	broad.mit.edu	37	7	91671467	91671467	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:91671467T>G	ENST00000359028.2	+	20	5286	c.5061T>G	c.(5059-5061)tgT>tgG	p.C1687W	AKAP9_ENST00000358100.2_Missense_Mutation_p.C1687W|AKAP9_ENST00000356239.3_Missense_Mutation_p.C1675W			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	1687					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			AGAAGCTGTGTTGTGAGCTGC	0.463			T	BRAF	papillary thyroid								4	69					0	0	1	0	0	G	91671467	T	G	91671467	3	3	81	1	0	0	0	0	1	0	0	0	456	1731	60	5	5099	5	AKAP9	7	91671467	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	775431	91671467	67467196	6139	9755											
AKAP9	10142	broad.mit.edu	37	7	91690677	91690677	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:91690677G>A	ENST00000359028.2	+	24	5966	c.5741G>A	c.(5740-5742)cGc>cAc	p.R1914H	AKAP9_ENST00000358100.2_Missense_Mutation_p.R1914H|AKAP9_ENST00000491695.1_3'UTR|AKAP9_ENST00000356239.3_Missense_Mutation_p.R1902H			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	1914	Glu-rich.				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			CTTCGAGAGCGCCTTCATGAG	0.483			T	BRAF	papillary thyroid								28	47					0	0	1	0	0	A	91690677	G	A	91690677	3	1	81	1	0	0	0	0	1	0	0	0	456	1087	38	1	5795	1	AKAP9	7	91690677	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	19210	91690677	67447986	6140	9756											
AKAP9	10142	broad.mit.edu	37	7	91708647	91708647	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:91708647G>A	ENST00000359028.2	+	32	7461	c.7236G>A	c.(7234-7236)caG>caA	p.Q2412Q	AKAP9_ENST00000358100.2_Silent_p.Q2412Q|AKAP9_ENST00000356239.3_Silent_p.Q2400Q			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	2412	Glu-rich.				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			CCTTGGAACAGCAAGTAGAAA	0.358			T	BRAF	papillary thyroid								52	35					0	0	1	0	0	A	91708647	G	A	91708647	2	1	81	1	0	0	0	0	0	0	0	1	456	962	34	2		2	AKAP9	7	91708647	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	17970	91708647	67430016	6141	9757											
AKAP9	10142	broad.mit.edu	37	7	91715584	91715584	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:91715584C>T	ENST00000359028.2	+	37	9304	c.9079C>T	c.(9079-9081)Cga>Tga	p.R3027*	AKAP9_ENST00000358100.2_Nonsense_Mutation_p.R2973*|AKAP9_ENST00000356239.3_Nonsense_Mutation_p.R3023*			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	3027					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			CTCAGACTGGCGAGGTGAACT	0.393			T	BRAF	papillary thyroid								137	99					0	0	1	0	0	T	91715584	C	T	91715584	4	4	81	1	0	0	0	0	0	1	0	0	456	760	27	1	9213	1	AKAP9	7	91715584	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	6937	91715584	67423079	6142	9758											
AKAP9	10142	broad.mit.edu	37	7	91731986	91731986	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:91731986C>A	ENST00000359028.2	+	46	11413	c.11188C>A	c.(11188-11190)Ctg>Atg	p.L3730M	AKAP9_ENST00000358100.2_Missense_Mutation_p.L3676M|AKAP9_ENST00000356239.3_Missense_Mutation_p.L3726M			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	3730	Poly-Leu.				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			GCTGCTGTTACTGGGTGGGTT	0.488			T	BRAF	papillary thyroid								14	207					9.31168e-06	1.05369e-05	1	1	0	A	91731986	C	A	91731986	3	1	81	1	0	0	0	0	1	0	0	0	456	564	20	4	11358	4	AKAP9	7	91731986	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	16402	91731986	67406677	6143	9759											
CYP51A1	1595	broad.mit.edu	37	7	91758259	91758259	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:91758259C>A	ENST00000003100.8	-	3	568	c.403G>T	c.(403-405)Gat>Tat	p.D135Y	CYP51A1_ENST00000450723.1_Missense_Mutation_p.D30Y|LRRD1_ENST00000422722.1_5'UTR	NM_000786.3	NP_000777.1	Q16850	CP51A_HUMAN	cytochrome P450, family 51, subfamily A, polypeptide 1	129					cholesterol biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|sterol 14-demethylase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|skin(1)	10	all_cancers(62;2.16e-09)|all_epithelial(64;3.86e-08)|Breast(17;0.00206)|all_lung(186;0.169)|all_hematologic(106;0.215)|Lung NSC(181;0.227)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		Fluconazole(DB00196)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Miconazole(DB01110)|Terconazole(DB00251)	CTGTAGACATCTTCTGCATTC	0.413													69	188					3.12118e-38	4.18746e-38	1	1	0	A	91758259	C	A	91758259	3	1	81	1	0	0	0	0	1	0	0	0	4218	913	32	4	1158	4	CYP51A1	7	91758259	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	26273	91758259	67380404	6144	9760											
KRIT1	889	broad.mit.edu	37	7	91830633	91830633	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:91830633T>C	ENST00000394507.1	-	19	2913	c.2130A>G	c.(2128-2130)gtA>gtG	p.V710V	KRIT1_ENST00000394505.2_Silent_p.V710V|KRIT1_ENST00000340022.2_Silent_p.V710V|AC000120.7_ENST00000414227.1_RNA|KRIT1_ENST00000394503.2_Silent_p.V662V|KRIT1_ENST00000412043.2_Silent_p.V710V	NM_194456.1	NP_919438.1	O00522	KRIT1_HUMAN	KRIT1, ankyrin repeat containing	710	FERM.|Required for RAP1A binding.				angiogenesis|cell redox homeostasis|negative regulation of angiogenesis|negative regulation of endothelial cell apoptosis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|regulation of establishment of cell polarity|small GTPase mediated signal transduction	cell-cell junction|cytoskeleton	protein binding|small GTPase regulator activity			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(2)|stomach(1)	22	all_cancers(62;1.04e-09)|all_epithelial(64;5.75e-09)|Breast(17;0.00206)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			GTTTTGTATGTACTATAAAGC	0.289													6	80					0	0	1	0	0	C	91830633	T	C	91830633	2	2	81	1	0	0	0	0	0	0	0	1	8488	1625	57	3		3	KRIT1	7	91830633	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	72374	91830633	67308030	6145	9761											
KRIT1	889	broad.mit.edu	37	7	91844019	91844019	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:91844019C>A	ENST00000394507.1	-	16	2419	c.1636G>T	c.(1636-1638)Gct>Tct	p.A546S	KRIT1_ENST00000394505.2_Missense_Mutation_p.A546S|KRIT1_ENST00000340022.2_Missense_Mutation_p.A546S|KRIT1_ENST00000394503.2_Missense_Mutation_p.A498S|KRIT1_ENST00000412043.2_Missense_Mutation_p.A546S	NM_194456.1	NP_919438.1	O00522	KRIT1_HUMAN	KRIT1, ankyrin repeat containing	546	FERM.|Required for RAP1A binding.				angiogenesis|cell redox homeostasis|negative regulation of angiogenesis|negative regulation of endothelial cell apoptosis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|regulation of establishment of cell polarity|small GTPase mediated signal transduction	cell-cell junction|cytoskeleton	protein binding|small GTPase regulator activity			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(2)|stomach(1)	22	all_cancers(62;1.04e-09)|all_epithelial(64;5.75e-09)|Breast(17;0.00206)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			GCATCAGGAGCTGTATAAAAG	0.328													25	59					2.98393e-07	3.48382e-07	1	1	0	A	91844019	C	A	91844019	3	1	81	1	0	0	0	0	1	0	0	0	8488	797	28	4	594	4	KRIT1	7	91844019	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	13386	91844019	67294644	6146	9762											
KRIT1	889	broad.mit.edu	37	7	91852280	91852280	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:91852280G>A	ENST00000394507.1	-	14	2050	c.1267C>T	c.(1267-1269)Cga>Tga	p.R423*	KRIT1_ENST00000394505.2_Nonsense_Mutation_p.R423*|KRIT1_ENST00000340022.2_Nonsense_Mutation_p.R423*|KRIT1_ENST00000394503.2_Nonsense_Mutation_p.R375*|KRIT1_ENST00000412043.2_Nonsense_Mutation_p.R423*	NM_194456.1	NP_919438.1	O00522	KRIT1_HUMAN	KRIT1, ankyrin repeat containing	423	FERM.				angiogenesis|cell redox homeostasis|negative regulation of angiogenesis|negative regulation of endothelial cell apoptosis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|regulation of establishment of cell polarity|small GTPase mediated signal transduction	cell-cell junction|cytoskeleton	protein binding|small GTPase regulator activity			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(2)|stomach(1)	22	all_cancers(62;1.04e-09)|all_epithelial(64;5.75e-09)|Breast(17;0.00206)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			CTGTATATTCGAACTTTTTCA	0.343													17	52					0	0	1	0	0	A	91852280	G	A	91852280	4	1	81	1	0	0	0	0	0	1	0	0	8488	1066	37	1	971	1	KRIT1	7	91852280	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	8261	91852280	67286383	6147	9763											
PEX1	5189	broad.mit.edu	37	7	92126080	92126080	+	Silent	SNP	T	T	C	rs61750423		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:92126080T>C	ENST00000248633.4	-	17	2825	c.2730A>G	c.(2728-2730)ttA>ttG	p.L910L	PEX1_ENST00000541751.1_3'UTR|PEX1_ENST00000438045.1_Silent_p.L588L|PEX1_ENST00000428214.1_Silent_p.L853L	NM_000466.2	NP_000457.1	O43933	PEX1_HUMAN	peroxisomal biogenesis factor 1	910					microtubule-based peroxisome localization|protein import into peroxisome matrix	cytosol|nucleus|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			ATTTGCTGAGTAACTCTGGCC	0.303													98	70					0	0	1	0	0	C	92126080	T	C	92126080	2	2	81	1	0	0	0	0	0	0	0	1	11783	1635	57	3		3	PEX1	7	92126080	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	273800	92126080	67012583	6148	9764											
SAMD9	54809	broad.mit.edu	37	7	92730919	92730919	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:92730919delT	ENST00000379958.2	-	3	4761	c.4492delA	c.(4492-4494)attfs	p.I1498fs		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	1498						cytoplasm				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			CACTGGTCAATTTTTCCTTTG	0.378													13	101	---	---	---	---						-	92730919	T	-	92730919	7	5	81	1	0	1	0	1	0	0	0	0	13878	1493	52	0	281	0	SAMD9	7	92730919	Frame_Shift_Del	DEL	T	TCGA-DU-6392-01A-11D-1705-08	604839	92730919	66407744	6149	9765											
SAMD9	54809	broad.mit.edu	37	7	92731698	92731698	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:92731698A>C	ENST00000379958.2	-	3	3982	c.3713T>G	c.(3712-3714)aTt>aGt	p.I1238S		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	1238						cytoplasm				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			ATCCCCTGGAATATCACTACT	0.274													20	100					0	0	1	0	0	C	92731698	A	C	92731698	3	2	81	1	0	0	0	0	1	0	0	0	13878	101	4	4	1060	4	SAMD9	7	92731698	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	779	92731698	66406965	6150	9766											
SAMD9	54809	broad.mit.edu	37	7	92732292	92732292	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:92732292C>T	ENST00000379958.2	-	3	3388	c.3119G>A	c.(3118-3120)cGc>cAc	p.R1040H		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	1040						cytoplasm		p.R1040L(1)		NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			ATGTTCATCGCGGTGTCTTGT	0.363													6	132					0	0	1	0	0	T	92732292	C	T	92732292	3	4	81	1	0	0	0	0	1	0	0	0	13878	768	27	1	1654	1	SAMD9	7	92732292	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	594	92732292	66406371	6151	9767											
SAMD9L	219285	broad.mit.edu	37	7	92761246	92761246	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:92761246G>A	ENST00000318238.4	-	5	5255	c.4039C>T	c.(4039-4041)Ctt>Ttt	p.L1347F	SAMD9L_ENST00000437805.1_Missense_Mutation_p.L1347F|SAMD9L_ENST00000411955.1_Missense_Mutation_p.L1347F	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	1347										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			TTTGGATTAAGATATTCCAAG	0.388													7	196					0	0	1	0	0	A	92761246	G	A	92761246	3	1	81	1	0	0	0	0	1	0	0	0	13879	942	33	2	719	2	SAMD9L	7	92761246	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	28954	92761246	66377417	6152	9768											
SAMD9L	219285	broad.mit.edu	37	7	92761672	92761672	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:92761672G>T	ENST00000318238.4	-	5	4829	c.3613C>A	c.(3613-3615)Ctt>Att	p.L1205I	SAMD9L_ENST00000437805.1_Missense_Mutation_p.L1205I|SAMD9L_ENST00000411955.1_Missense_Mutation_p.L1205I	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	1205										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			ATAGTGTAAAGACCAACTTCT	0.373													55	184					1.63038e-21	2.13596e-21	1	1	0	T	92761672	G	T	92761672	3	4	81	1	0	0	0	0	1	0	0	0	13879	942	33	4	1145	4	SAMD9L	7	92761672	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	426	92761672	66376991	6153	9769											
SAMD9L	219285	broad.mit.edu	37	7	92762300	92762300	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:92762300G>A	ENST00000318238.4	-	5	4201	c.2985C>T	c.(2983-2985)taC>taT	p.Y995Y	SAMD9L_ENST00000437805.1_Silent_p.Y995Y|SAMD9L_ENST00000411955.1_Silent_p.Y995Y	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	995										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			CTTTTAGACAGTACAGGGCAA	0.353													38	97					0	0	1	0	0	A	92762300	G	A	92762300	2	1	81	1	0	0	0	0	0	0	0	1	13879	1024	36	2		2	SAMD9L	7	92762300	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	628	92762300	66376363	6154	9770											
SAMD9L	219285	broad.mit.edu	37	7	92762895	92762895	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:92762895G>T	ENST00000318238.4	-	5	3606	c.2390C>A	c.(2389-2391)cCt>cAt	p.P797H	SAMD9L_ENST00000437805.1_Missense_Mutation_p.P797H|SAMD9L_ENST00000411955.1_Missense_Mutation_p.P797H	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	797										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			GAGAAGCACAGGAATGTAATC	0.383													39	113					2.75727e-19	3.58843e-19	1	1	0	T	92762895	G	T	92762895	3	4	81	1	0	0	0	0	1	0	0	0	13879	1000	35	4	2368	4	SAMD9L	7	92762895	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	595	92762895	66375768	6155	9771											
SAMD9L	219285	broad.mit.edu	37	7	92763849	92763849	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:92763849T>C	ENST00000318238.4	-	5	2652	c.1436A>G	c.(1435-1437)aAc>aGc	p.N479S	SAMD9L_ENST00000437805.1_Missense_Mutation_p.N479S|SAMD9L_ENST00000411955.1_Missense_Mutation_p.N479S	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	479										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			CTCCCACATGTTAGTTGTCTT	0.403													41	137					0	0	1	0	0	C	92763849	T	C	92763849	3	2	81	1	0	0	0	0	1	0	0	0	13879	1725	60	3	3322	3	SAMD9L	7	92763849	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	954	92763849	66374814	6156	9772											
CCDC132	55610	broad.mit.edu	37	7	92887538	92887538	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:92887538C>T	ENST00000544910.1	+	8	620	c.400C>T	c.(400-402)Cgt>Tgt	p.R134C	CCDC132_ENST00000305866.5_Missense_Mutation_p.R164C|CCDC132_ENST00000251739.5_Missense_Mutation_p.R164C|CCDC132_ENST00000535481.1_Intron|CCDC132_ENST00000541136.1_5'UTR|CCDC132_ENST00000317751.6_5'UTR	NM_001257998.1	NP_001244927.1	Q96JG6	CC132_HUMAN	coiled-coil domain containing 132	164										endometrium(1)|large_intestine(2)|lung(5)	8	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		STAD - Stomach adenocarcinoma(171;0.000302)			TCAAAGGAAACGTCAGTTGCT	0.313													10	48					0	0	1	0	0	T	92887538	C	T	92887538	3	4	81	1	0	0	0	0	1	0	0	0	2785	536	19	1	516	1	CCDC132	7	92887538	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	123689	92887538	66251125	6157	9773											
CCDC132	55610	broad.mit.edu	37	7	92938235	92938235	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:92938235G>A	ENST00000544910.1	+	20	1859	c.1639G>A	c.(1639-1641)Gga>Aga	p.G547R	CCDC132_ENST00000305866.5_Missense_Mutation_p.G577R|CCDC132_ENST00000535481.1_Missense_Mutation_p.G297R|CCDC132_ENST00000541136.1_Missense_Mutation_p.G388R|CCDC132_ENST00000317751.6_Missense_Mutation_p.G308R	NM_001257998.1	NP_001244927.1	Q96JG6	CC132_HUMAN	coiled-coil domain containing 132	577										endometrium(1)|large_intestine(2)|lung(5)	8	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		STAD - Stomach adenocarcinoma(171;0.000302)			TGAGCAGACAGGAGATGGTCC	0.378													53	39					0	0	1	0	0	A	92938235	G	A	92938235	3	1	81	1	0	0	0	0	1	0	0	0	2785	1001	35	2	1845	2	CCDC132	7	92938235	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	50697	92938235	66200428	6158	9774											
COL1A2	1278	broad.mit.edu	37	7	94038679	94038679	+	Missense_Mutation	SNP	G	G	A	rs72656387		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:94038679G>A	ENST00000297268.6	+	17	1309	c.838G>A	c.(838-840)Ggt>Agt	p.G280S		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	280					axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	TGGTCCCGCCGGTCCCCGTGG	0.473										HNSCC(75;0.22)			35	106					0	0	1	0	0	A	94038679	G	A	94038679	3	1	81	1	0	0	0	0	1	0	0	0	3701	1116	39	1	904	1	COL1A2	7	94038679	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1100444	94038679	65099984	6159	9775											
COL1A2	1278	broad.mit.edu	37	7	94039589	94039589	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:94039589C>T	ENST00000297268.6	+	20	1542	c.1071C>T	c.(1069-1071)agC>agT	p.S357S		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	357					axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	AAGGAGAGAGCGGTAACAAGG	0.418										HNSCC(75;0.22)			20	20					0	0	1	0	0	T	94039589	C	T	94039589	2	4	81	1	0	0	0	0	0	0	0	1	3701	767	27	1		1	COL1A2	7	94039589	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	910	94039589	65099074	6160	9776											
COL1A2	1278	broad.mit.edu	37	7	94054475	94054475	+	Missense_Mutation	SNP	G	G	T	rs121912900		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:94054475G>T	ENST00000297268.6	+	42	3191	c.2720G>T	c.(2719-2721)gGt>gTt	p.G907V		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	907					axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	GGGGCCCGTGGTCCTCCTGGT	0.522										HNSCC(75;0.22)			16	55					7.07596e-05	7.81712e-05	1	1	0	T	94054475	G	T	94054475	3	4	81	1	0	0	0	0	1	0	0	0	3701	1261	44	5	2886	5	COL1A2	7	94054475	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	14886	94054475	65084188	6161	9777											
COL1A2	1278	broad.mit.edu	37	7	94059628	94059628	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:94059628C>A	ENST00000297268.6	+	52	4495	c.4024C>A	c.(4024-4026)Ctt>Att	p.L1342I		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	1342	Fibrillar collagen NC1.				axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	CCTGCCCTTCCTTGATATTGC	0.363										HNSCC(75;0.22)			79	180					1.75807e-36	2.35553e-36	1	1	0	A	94059628	C	A	94059628	3	1	81	1	0	0	0	0	1	0	0	0	3701	681	24	4	4230	4	COL1A2	7	94059628	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	5153	94059628	65079035	6162	9778											
CASD1	64921	broad.mit.edu	37	7	94157499	94157499	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:94157499G>T	ENST00000297273.4	+	5	683		c.e5-1			NM_022900.4	NP_075051.4	Q96PB1	CASD1_HUMAN	CAS1 domain containing 1							integral to membrane				NS(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(3)|stomach(2)|upper_aerodigestive_tract(1)	31	all_cancers(62;6.71e-10)|all_epithelial(64;5e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			TTCTCTTTTAGGATTTTCTGT	0.289													7	113					0.000673444	0.000721718	1	1	0	T	94157499	G	T	94157499	5	4	81	1	0	0	0	0	0	0	1	0	2682	1014	35	4	414	4	CASD1	7	94157499	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	97871	94157499	64981164	6163	9779											
CASD1	64921	broad.mit.edu	37	7	94175012	94175012	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:94175012C>T	ENST00000297273.4	+	12	1919	c.1632C>T	c.(1630-1632)aaC>aaT	p.N544N		NM_022900.4	NP_075051.4	Q96PB1	CASD1_HUMAN	CAS1 domain containing 1	544						integral to membrane				NS(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(3)|stomach(2)|upper_aerodigestive_tract(1)	31	all_cancers(62;6.71e-10)|all_epithelial(64;5e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			AAAAAGCAAACGGTAAATATA	0.284													23	17					0	0	1	0	0	T	94175012	C	T	94175012	5	4	81	1	0	0	0	0	0	0	1	0	2682	550	19	1	1678	1	CASD1	7	94175012	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	17513	94175012	64963651	6164	9780											
CASD1	64921	broad.mit.edu	37	7	94176487	94176487	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:94176487G>T	ENST00000297273.4	+	13	2000	c.1713G>T	c.(1711-1713)caG>caT	p.Q571H		NM_022900.4	NP_075051.4	Q96PB1	CASD1_HUMAN	CAS1 domain containing 1	571						integral to membrane				NS(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(3)|stomach(2)|upper_aerodigestive_tract(1)	31	all_cancers(62;6.71e-10)|all_epithelial(64;5e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			CATATTCTCAGGTTTGTACAA	0.279													6	61					5.18039e-06	5.88187e-06	1	1	0	T	94176487	G	T	94176487	5	4	81	1	0	0	0	0	0	0	1	0	2682	1014	35	4	1763	4	CASD1	7	94176487	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1475	94176487	64962176	6165	9781											
SGCE	8910	broad.mit.edu	37	7	94259103	94259103	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:94259103C>A	ENST00000415788.2	-	3	355	c.268G>T	c.(268-270)Gca>Tca	p.A90S	SGCE_ENST00000447873.1_Missense_Mutation_p.A54S|SGCE_ENST00000445866.2_Missense_Mutation_p.A54S|SGCE_ENST00000428696.2_Missense_Mutation_p.A54S|SGCE_ENST00000265735.7_Missense_Mutation_p.A54S|SGCE_ENST00000437425.2_Intron			O43556	SGCE_HUMAN	sarcoglycan, epsilon	54					cell-matrix adhesion|muscle organ development	cytoplasm|cytoskeleton|integral to plasma membrane|sarcoglycan complex|sarcolemma	calcium ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|skin(1)	14	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			AGGACACCTGCTGATGGGTAT	0.378													110	93					3.24833e-45	4.36774e-45	1	1	0	A	94259103	C	A	94259103	3	1	81	1	0	0	0	0	1	0	0	0	14256	797	28	4	1345	4	SGCE	7	94259103	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	82616	94259103	64879560	6166	9782											
PEG10	23089	broad.mit.edu	37	7	94293536	94293536	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:94293536T>C	ENST00000482108.1	+	2	1147	c.668T>C	c.(667-669)gTc>gCc	p.V223A	PEG10_ENST00000488574.1_Missense_Mutation_p.V223A	NM_001040152.1|NM_001172438.1|NM_001184962.1	NP_001035242.1|NP_001165909.1|NP_001171891.1	Q86TG7	PEG10_HUMAN	paternally expressed 10	223	Necessary for interaction with ALK1.				apoptosis|cell differentiation|negative regulation of transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(9)|prostate(3)|skin(1)	21	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			CACCTCGAGGTCGCCAAGTCG	0.622													11	102					0	0	1	0	0	C	94293536	T	C	94293536	3	2	81	1	0	0	0	0	1	0	0	0	11766	1667	58	3	902	3	PEG10	7	94293536	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	34433	94293536	64845127	6167	9783											
PPP1R9A	55607	broad.mit.edu	37	7	94915538	94915538	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:94915538C>A	ENST00000289495.5	+	16	3612	c.3396C>A	c.(3394-3396)gaC>gaA	p.D1132E	PPP1R9A_ENST00000433360.1_Missense_Mutation_p.D1210E|PPP1R9A_ENST00000340694.4_Missense_Mutation_p.D926E|PPP1R9A_ENST00000433881.1_Missense_Mutation_p.D926E|PPP1R9A_ENST00000424654.1_Missense_Mutation_p.D1150E|PPP1R9A_ENST00000456331.2_Missense_Mutation_p.D1150E	NM_001166161.1	NP_001159633.1	Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A	926						cell junction|synapse|synaptosome	actin binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			TCAATGATGACTTCAGTCCCA	0.453										HNSCC(28;0.073)			27	17					6.32553e-13	7.94418e-13	1	1	0	A	94915538	C	A	94915538	3	1	81	1	0	0	0	0	1	0	0	0	12427	564	20	4	3696	4	PPP1R9A	7	94915538	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	622002	94915538	64223125	6168	9784											
PPP1R9A	55607	broad.mit.edu	37	7	94915620	94915620	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:94915620G>T	ENST00000289495.5	+	16	3694	c.3478G>T	c.(3478-3480)Gca>Tca	p.A1160S	PPP1R9A_ENST00000433360.1_Missense_Mutation_p.A1238S|PPP1R9A_ENST00000340694.4_Missense_Mutation_p.A954S|PPP1R9A_ENST00000433881.1_Missense_Mutation_p.A954S|PPP1R9A_ENST00000424654.1_Missense_Mutation_p.A1178S|PPP1R9A_ENST00000456331.2_Missense_Mutation_p.A1178S	NM_001166161.1	NP_001159633.1	Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A	954						cell junction|synapse|synaptosome	actin binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			TCAGTCCTTAGCACTGTCATC	0.458										HNSCC(28;0.073)			13	32					6.81908e-15	8.67891e-15	1	1	0	T	94915620	G	T	94915620	3	4	81	1	0	0	0	0	1	0	0	0	12427	971	34	4	3778	4	PPP1R9A	7	94915620	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	82	94915620	64223043	6169	9785											
PPP1R9A	55607	broad.mit.edu	37	7	94917922	94917922	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:94917922G>T	ENST00000289495.5	+	17	3786	c.3570G>T	c.(3568-3570)caG>caT	p.Q1190H	PPP1R9A_ENST00000433360.1_Missense_Mutation_p.Q1268H|PPP1R9A_ENST00000340694.4_Missense_Mutation_p.Q992H|PPP1R9A_ENST00000433881.1_Missense_Mutation_p.Q992H|PPP1R9A_ENST00000424654.1_Intron|PPP1R9A_ENST00000456331.2_Intron	NM_001166161.1	NP_001159633.1	Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A	992						cell junction|synapse|synaptosome	actin binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			GTGTGCAGCAGGTTTCTCACT	0.453										HNSCC(28;0.073)			21	93					1.55795e-14	1.97772e-14	1	1	0	T	94917922	G	T	94917922	3	4	81	1	0	0	0	0	1	0	0	0	12427	991	35	4	3902	4	PPP1R9A	7	94917922	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2302	94917922	64220741	6170	9786											
PON3	5446	broad.mit.edu	37	7	94991693	94991693	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:94991693T>G	ENST00000265627.5	-	8	897	c.887A>C	c.(886-888)gAg>gCg	p.E296A	PON3_ENST00000427422.1_Intron|PON3_ENST00000451904.1_3'UTR|PON1_ENST00000542556.1_Intron	NM_000940.2	NP_000931.1			paraoxonase 3											breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	24	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		STAD - Stomach adenocarcinoma(171;0.0151)			TGGAGGGTCCTCAGGGTTATA	0.468													5	52					0	0	1	0	0	G	94991693	T	G	94991693	3	3	81	1	0	0	0	0	1	0	0	0	12298	1551	54	5	185	5	PON3	7	94991693	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	73771	94991693	64146970	6171	9787											
PDK4	5166	broad.mit.edu	37	7	95217073	95217073	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:95217073A>G	ENST00000005178.5	-	8	1033	c.836T>C	c.(835-837)aTt>aCt	p.I279T		NM_002612.3	NP_002603.1	Q16654	PDK4_HUMAN	pyruvate dehydrogenase kinase, isozyme 4	279	Histidine kinase.				glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	ATP binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	15	all_cancers(62;1.06e-10)|all_epithelial(64;1.04e-09)|Lung NSC(181;0.128)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0151)			CAAGACAACAATAACCTCTAT	0.383													4	56					0	0	1	0	0	G	95217073	A	G	95217073	3	3	81	1	0	0	0	0	1	0	0	0	11725	101	4	3	415	3	PDK4	7	95217073	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	225380	95217073	63921590	6172	9788											
DYNC1I1	1780	broad.mit.edu	37	7	95665036	95665036	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:95665036A>G	ENST00000324972.6	+	13	1580	c.1387A>G	c.(1387-1389)Aca>Gca	p.T463A	DYNC1I1_ENST00000457059.1_Missense_Mutation_p.T446A|DYNC1I1_ENST00000497626.1_3'UTR|DYNC1I1_ENST00000537881.1_Missense_Mutation_p.T426A|DYNC1I1_ENST00000359388.4_Missense_Mutation_p.T426A|DYNC1I1_ENST00000437599.1_Missense_Mutation_p.T443A|DYNC1I1_ENST00000447467.2_Missense_Mutation_p.T446A	NM_004411.4	NP_004402.1	O14576	DC1I1_HUMAN	dynein, cytoplasmic 1, intermediate chain 1	463					vesicle transport along microtubule	condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle	microtubule binding|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	54	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		STAD - Stomach adenocarcinoma(171;0.0957)			TGAGGAAGGTACAGTCTACAC	0.448													139	111					0	0	1	0	0	G	95665036	A	G	95665036	3	3	81	1	0	0	0	0	1	0	0	0	4868	391	14	3	1433	3	DYNC1I1	7	95665036	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	447963	95665036	63473627	6173	9789											
SLC25A13	10165	broad.mit.edu	37	7	95775888	95775888	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:95775888C>T	ENST00000416240.2	-	14	1625	c.1435G>A	c.(1435-1437)Ggg>Agg	p.G479R	SLC25A13_ENST00000265631.5_Missense_Mutation_p.G478R|SLC25A13_ENST00000542654.1_Missense_Mutation_p.G370R	NM_001160210.1|NM_014251.2	NP_001153682.1|NP_055066.1	Q9UJS0	CMC2_HUMAN	solute carrier family 25 (aspartate/glutamate carrier), member 13	478					ATP biosynthetic process|gluconeogenesis|malate-aspartate shuttle|response to calcium ion	integral to plasma membrane|mitochondrial inner membrane	calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity			breast(4)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|prostate(1)|skin(4)	42	all_cancers(62;7.75e-08)|all_epithelial(64;1.16e-07)		STAD - Stomach adenocarcinoma(171;0.194)		L-Aspartic Acid(DB00128)	CCAAAAAACCCCAGGTCCCGC	0.393													8	207					0	0	1	0	0	T	95775888	C	T	95775888	3	4	81	1	0	0	0	0	1	0	0	0	14530	623	22	2	615	2	SLC25A13	7	95775888	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	110852	95775888	63362775	6174	9790	43	2									
SLC25A13	10165	broad.mit.edu	37	7	95775897	95775897	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:95775897G>A	ENST00000416240.2	-	14	1616	c.1426C>T	c.(1426-1428)Cgg>Tgg	p.R476W	SLC25A13_ENST00000265631.5_Missense_Mutation_p.R475W|SLC25A13_ENST00000542654.1_Missense_Mutation_p.R367W	NM_001160210.1|NM_014251.2	NP_001153682.1|NP_055066.1	Q9UJS0	CMC2_HUMAN	solute carrier family 25 (aspartate/glutamate carrier), member 13	475					ATP biosynthetic process|gluconeogenesis|malate-aspartate shuttle|response to calcium ion	integral to plasma membrane|mitochondrial inner membrane	calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity			breast(4)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|prostate(1)|skin(4)	42	all_cancers(62;7.75e-08)|all_epithelial(64;1.16e-07)		STAD - Stomach adenocarcinoma(171;0.194)		L-Aspartic Acid(DB00128)	CCCAGGTCCCGCACGACAGAC	0.403													15	213					0	0	1	0	0	A	95775897	G	A	95775897	3	1	81	1	0	0	0	0	1	0	0	0	14530	1086	38	1	624	1	SLC25A13	7	95775897	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	9	95775897	63362766	6175	9791	43	2									
SLC25A13	10165	broad.mit.edu	37	7	95822374	95822374	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:95822374G>T	ENST00000416240.2	-	6	780	c.590C>A	c.(589-591)cCt>cAt	p.P197H	SLC25A13_ENST00000265631.5_Missense_Mutation_p.P197H|SLC25A13_ENST00000542654.1_Missense_Mutation_p.P89H	NM_001160210.1|NM_014251.2	NP_001153682.1|NP_055066.1	Q9UJS0	CMC2_HUMAN	solute carrier family 25 (aspartate/glutamate carrier), member 13	197					ATP biosynthetic process|gluconeogenesis|malate-aspartate shuttle|response to calcium ion	integral to plasma membrane|mitochondrial inner membrane	calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity			breast(4)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|prostate(1)|skin(4)	42	all_cancers(62;7.75e-08)|all_epithelial(64;1.16e-07)		STAD - Stomach adenocarcinoma(171;0.194)		L-Aspartic Acid(DB00128)	TTCTACAAAAGGAGTCAAGAC	0.418													5	78					0.000602214	0.000646338	1	1	0	T	95822374	G	T	95822374	3	4	81	1	0	0	0	0	1	0	0	0	14530	1000	35	4	1492	4	SLC25A13	7	95822374	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	46477	95822374	63316289	6176	9792											
DLX6	1750	broad.mit.edu	37	7	96639119	96639119	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:96639119G>A	ENST00000518156.2	+	3	1072	c.642G>A	c.(640-642)tgG>tgA	p.W214*	DLX6-AS1_ENST00000437541.1_RNA|DLX6-AS1_ENST00000430027.3_RNA|DLX6-AS1_ENST00000437331.2_RNA|DLX6-AS1_ENST00000458352.2_RNA|DLX6_ENST00000555308.1_Nonsense_Mutation_p.W86*|DLX6_ENST00000007660.5_Nonsense_Mutation_p.W186*|DLX6-AS1_ENST00000452769.2_RNA|DLX6-AS1_ENST00000430404.2_RNA|DLX6-AS1_ENST00000605417.1_RNA|DLX6_ENST00000493273.2_3'UTR			P56179	DLX6_HUMAN	distal-less homeobox 6	96					nervous system development|skeletal system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(2)|lung(4)|ovary(2)|urinary_tract(1)	12	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)					TGAAGATATGGTTTCAGAACA	0.478													75	58					0	0	1	0	0	A	96639119	G	A	96639119	4	1	81	1	0	0	0	0	0	1	0	0	4603	1270	44	2	652	2	DLX6	7	96639119	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	816745	96639119	62499544	6177	9793											
DLX5	1749	broad.mit.edu	37	7	96651589	96651589	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:96651589C>A	ENST00000222598.4	-	2	921	c.448G>T	c.(448-450)Gcc>Tcc	p.A150S	DLX5_ENST00000486603.2_Missense_Mutation_p.A150S|DLX5_ENST00000493764.1_5'UTR	NM_005221.5	NP_005212.1	P56178	DLX5_HUMAN	distal-less homeobox 5	150					cell proliferation|endochondral ossification|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)	20	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)					TGTAATGCGGCCAGCTGAAAG	0.498													6	152					0.217242	0.218703	1	1	0	A	96651589	C	A	96651589	3	1	81	1	0	0	0	0	1	0	0	0	4602	739	26	5	429	5	DLX5	7	96651589	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	12470	96651589	62487074	6178	9794											
ASNS	440	broad.mit.edu	37	7	97498288	97498288	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:97498288G>A	ENST00000175506.4	-	4	709	c.181C>T	c.(181-183)Cca>Tca	p.P61S	ASNS_ENST00000422745.1_Missense_Mutation_p.P40S|ASNS_ENST00000437628.1_Intron|ASNS_ENST00000444334.1_Missense_Mutation_p.P40S|ASNS_ENST00000394309.3_Missense_Mutation_p.P61S|ASNS_ENST00000455086.1_Intron|ASNS_ENST00000394308.3_Missense_Mutation_p.P61S	NM_183356.3	NP_899199.2	P08243	ASNS_HUMAN	asparagine synthetase (glutamine-hydrolyzing)	61	Glutamine amidotransferase type-2.				cellular response to glucose starvation|glutamine metabolic process|negative regulation of apoptosis|positive regulation of mitotic cell cycle	cytosol|soluble fraction	asparagine synthase (glutamine-hydrolyzing) activity|ATP binding			ovary(1)	1	all_cancers(62;6.64e-09)|all_epithelial(64;1.58e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0342)|all_lung(186;0.0369)				Adenosine triphosphate(DB00171)|L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	ACTCGAATTGGCTGCATTCCA	0.453													28	83					0	0	1	0	0	A	97498288	G	A	97498288	3	1	81	1	0	0	0	0	1	0	0	0	1047	1203	42	2	1548	2	ASNS	7	97498288	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	846699	97498288	61640375	6179	9795											
LMTK2	22853	broad.mit.edu	37	7	97822147	97822147	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:97822147G>T	ENST00000297293.5	+	11	2663	c.2370G>T	c.(2368-2370)aaG>aaT	p.K790N		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	790					early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					TAAGCACAAAGGGTGACGATA	0.453													12	157					2.32078e-09	2.80257e-09	1	1	0	T	97822147	G	T	97822147	3	4	81	1	0	0	0	0	1	0	0	0	8900	991	35	4	2412	4	LMTK2	7	97822147	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	323859	97822147	61316516	6180	9796											
LMTK2	22853	broad.mit.edu	37	7	97822821	97822821	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:97822821C>A	ENST00000297293.5	+	11	3337	c.3044C>A	c.(3043-3045)tCt>tAt	p.S1015Y		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	1015					early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					TCTTTAGGATCTCACACTCCC	0.587													7	105					0.0293803	0.0300537	1	1	0	A	97822821	C	A	97822821	3	1	81	1	0	0	0	0	1	0	0	0	8900	913	32	4	3086	4	LMTK2	7	97822821	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	674	97822821	61315842	6181	9797											
LMTK2	22853	broad.mit.edu	37	7	97822889	97822889	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:97822889G>A	ENST00000297293.5	+	11	3405	c.3112G>A	c.(3112-3114)Gag>Aag	p.E1038K		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	1038					early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					AGAGAACTTGGAGTCTCCCGA	0.617													36	28					0	0	1	0	0	A	97822889	G	A	97822889	3	1	81	1	0	0	0	0	1	0	0	0	8900	1175	41	2	3154	2	LMTK2	7	97822889	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	68	97822889	61315774	6182	9798											
LMTK2	22853	broad.mit.edu	37	7	97833470	97833470	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:97833470C>A	ENST00000297293.5	+	13	4748	c.4455C>A	c.(4453-4455)caC>caA	p.H1485Q		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	1485				Missing (in Ref. 2; BAA83031).	early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					CCCTCACACACCTGACCGACT	0.682													49	45					1.51926e-22	1.99601e-22	1	1	0	A	97833470	C	A	97833470	3	1	81	1	0	0	0	0	1	0	0	0	8900	506	18	5	4505	5	LMTK2	7	97833470	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	10581	97833470	61305193	6183	9799											
TECPR1	25851	broad.mit.edu	37	7	97861270	97861270	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:97861270G>A	ENST00000447648.2	-	13	2119	c.1820C>T	c.(1819-1821)tCg>tTg	p.S607L	TECPR1_ENST00000542604.1_Splice_Site_p.S537L|TECPR1_ENST00000379795.3_Splice_Site_p.S608L			Q7Z6L1	TCPR1_HUMAN	tectonin beta-propeller repeat containing 1	607						integral to membrane	protein binding			central_nervous_system(2)|endometrium(8)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						CACCCACACCGACTGCGCAGG	0.721													6	12					0	0	1	0	0	A	97861270	G	A	97861270	5	1	81	1	0	0	0	0	0	0	1	0	15802	1072	37	1	1733	1	TECPR1	7	97861270	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	27800	97861270	61277393	6184	9800											
TECPR1	25851	broad.mit.edu	37	7	97862928	97862928	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:97862928T>C	ENST00000447648.2	-	11	1776	c.1477A>G	c.(1477-1479)Aag>Gag	p.K493E	TECPR1_ENST00000542604.1_Missense_Mutation_p.K423E|TECPR1_ENST00000379795.3_Missense_Mutation_p.K493E			Q7Z6L1	TCPR1_HUMAN	tectonin beta-propeller repeat containing 1	493						integral to membrane	protein binding			central_nervous_system(2)|endometrium(8)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						TTGGCCTCCTTGAGGTCAATA	0.692													4	36					0	0	1	0	0	C	97862928	T	C	97862928	3	2	81	1	0	0	0	0	1	0	0	0	15802	1821	63	3	2084	3	TECPR1	7	97862928	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	1658	97862928	61275735	6185	9801											
TECPR1	25851	broad.mit.edu	37	7	97874290	97874290	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:97874290C>T	ENST00000447648.2	-	4	614	c.315G>A	c.(313-315)ccG>ccA	p.P105P	TECPR1_ENST00000542604.1_Silent_p.P26P|TECPR1_ENST00000379795.3_Silent_p.P105P			Q7Z6L1	TCPR1_HUMAN	tectonin beta-propeller repeat containing 1	105						integral to membrane	protein binding			central_nervous_system(2)|endometrium(8)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						CCCTGTCCAGCGGCCGGTGCT	0.637													15	10					0	0	1	0	0	T	97874290	C	T	97874290	2	4	81	1	0	0	0	0	0	0	0	1	15802	755	27	1		1	TECPR1	7	97874290	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	11362	97874290	61264373	6186	9802											
BAIAP2L1	55971	broad.mit.edu	37	7	97944811	97944811	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:97944811G>A	ENST00000005260.8	-	7	815	c.600C>T	c.(598-600)caC>caT	p.H200H	BAIAP2L1_ENST00000462558.1_5'UTR	NM_018842.4	NP_061330.2	Q9UHR4	BI2L1_HUMAN	BAI1-associated protein 2-like 1	200	IMD.				filopodium assembly|positive regulation of actin cytoskeleton reorganization|positive regulation of actin filament polymerization|response to bacterium|signal transduction	cell junction|cytoskeleton|cytosol|nucleus	actin binding|cytoskeletal adaptor activity|proline-rich region binding|SH3 domain binding			NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)	23	all_cancers(62;4.34e-10)|all_epithelial(64;5e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0113)|all_lung(186;0.0126)		STAD - Stomach adenocarcinoma(171;0.215)			CAAAGCCACAGTGCTTATCAA	0.408													18	195					0	0	1	0	0	A	97944811	G	A	97944811	2	1	81	1	0	0	0	0	0	0	0	1	1300	1020	36	2		2	BAIAP2L1	7	97944811	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	70521	97944811	61193852	6187	9803											
BAIAP2L1	55971	broad.mit.edu	37	7	97949586	97949586	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:97949586C>T	ENST00000005260.8	-	4	454	c.239G>A	c.(238-240)aGt>aAt	p.S80N	BAIAP2L1_ENST00000462558.1_5'UTR	NM_018842.4	NP_061330.2	Q9UHR4	BI2L1_HUMAN	BAI1-associated protein 2-like 1	80	IMD.				filopodium assembly|positive regulation of actin cytoskeleton reorganization|positive regulation of actin filament polymerization|response to bacterium|signal transduction	cell junction|cytoskeleton|cytosol|nucleus	actin binding|cytoskeletal adaptor activity|proline-rich region binding|SH3 domain binding			NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)	23	all_cancers(62;4.34e-10)|all_epithelial(64;5e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0113)|all_lung(186;0.0126)		STAD - Stomach adenocarcinoma(171;0.215)			CTTGTGGGTACTTGAAATCTC	0.363													28	20					0	0	1	0	0	T	97949586	C	T	97949586	3	4	81	1	0	0	0	0	1	0	0	0	1300	565	20	2	1340	2	BAIAP2L1	7	97949586	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	4775	97949586	61189077	6188	9804											
NPTX2	4885	broad.mit.edu	37	7	98256624	98256624	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:98256624C>T	ENST00000265634.3	+	4	1201	c.1036C>T	c.(1036-1038)Ccc>Tcc	p.P346S		NM_002523.2	NP_002514.1	P47972	NPTX2_HUMAN	neuronal pentraxin II	346	Pentaxin.				synaptic transmission	extracellular region	metal ion binding|sugar binding			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18	all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142)		STAD - Stomach adenocarcinoma(171;0.215)			CCCCATCAAGCCCGGGGGCGT	0.677													28	18					0	0	1	0	0	T	98256624	C	T	98256624	3	4	81	1	0	0	0	0	1	0	0	0	10651	739	26	2	1050	2	NPTX2	7	98256624	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	307038	98256624	60882039	6189	9805											
TRRAP	8295	broad.mit.edu	37	7	98506447	98506447	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:98506447G>A	ENST00000359863.4	+	14	1421	c.1212G>A	c.(1210-1212)aaG>aaA	p.K404K	TRRAP_ENST00000446306.3_Silent_p.K404K|TRRAP_ENST00000355540.3_Silent_p.K404K	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	404					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TCTTCGCCAAGAACATCGACG	0.642													3	14					0	0	1	0	0	A	98506447	G	A	98506447	2	1	81	1	0	0	0	0	0	0	0	1	16662	933	33	2		2	TRRAP	7	98506447	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	249823	98506447	60632216	6190	9806											
TRRAP	8295	broad.mit.edu	37	7	98515137	98515137	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:98515137G>A	ENST00000359863.4	+	20	2666	c.2457G>A	c.(2455-2457)tcG>tcA	p.S819S	TRRAP_ENST00000446306.3_Silent_p.S818S|TRRAP_ENST00000355540.3_Silent_p.S819S	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	819					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			GGCTGAGCTCGCTTTTGCCGT	0.572													19	70					0	0	1	0	0	A	98515137	G	A	98515137	2	1	81	1	0	0	0	0	0	0	0	1	16662	1074	38	1		1	TRRAP	7	98515137	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	8690	98515137	60623526	6191	9807	44	2									
TRRAP	8295	broad.mit.edu	37	7	98515147	98515147	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:98515147T>C	ENST00000359863.4	+	20	2676	c.2467T>C	c.(2467-2469)Tac>Cac	p.Y823H	TRRAP_ENST00000446306.3_Missense_Mutation_p.Y822H|TRRAP_ENST00000355540.3_Missense_Mutation_p.Y823H	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	823					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			GCTTTTGCCGTACCTGCCCAT	0.567													4	92					0	0	1	0	0	C	98515147	T	C	98515147	3	2	81	1	0	0	0	0	1	0	0	0	16662	1638	57	3	2541	3	TRRAP	7	98515147	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	10	98515147	60623516	6192	9808	44	2									
TRRAP	8295	broad.mit.edu	37	7	98524833	98524833	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:98524833T>C	ENST00000359863.4	+	23	3228	c.3019T>C	c.(3019-3021)Tac>Cac	p.Y1007H	TRRAP_ENST00000446306.3_Missense_Mutation_p.Y1006H|TRRAP_ENST00000355540.3_Missense_Mutation_p.Y1007H	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	1007					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			CTCACATCGCTACAAAGCCCA	0.542													8	63					0	0	1	0	0	C	98524833	T	C	98524833	3	2	81	1	0	0	0	0	1	0	0	0	16662	1522	53	3	3105	3	TRRAP	7	98524833	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	9686	98524833	60613830	6193	9809											
TRRAP	8295	broad.mit.edu	37	7	98527692	98527692	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:98527692G>T	ENST00000359863.4	+	24	3465	c.3256G>T	c.(3256-3258)Gga>Tga	p.G1086*	TRRAP_ENST00000446306.3_Nonsense_Mutation_p.G1085*|TRRAP_ENST00000355540.3_Nonsense_Mutation_p.G1086*	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	1086					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TGGCTCGAAAGGAATGGATCC	0.478													6	140					1.26484e-09	1.5311e-09	1	1	0	T	98527692	G	T	98527692	4	4	81	1	0	0	0	0	0	1	0	0	16662	1001	35	4	3346	4	TRRAP	7	98527692	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2859	98527692	60610971	6194	9810											
TRRAP	8295	broad.mit.edu	37	7	98555694	98555694	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:98555694C>A	ENST00000359863.4	+	43	6510	c.6301C>A	c.(6301-6303)Ctt>Att	p.L2101I	TRRAP_ENST00000446306.3_Missense_Mutation_p.L2082I|TRRAP_ENST00000355540.3_Missense_Mutation_p.L2083I	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	2101	Interaction with TP53.				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			GGTGAACTTCCTTATCCGCGT	0.572													10	26					0.010729	0.0111384	1	1	0	A	98555694	C	A	98555694	3	1	81	1	0	0	0	0	1	0	0	0	16662	681	24	4	6409	4	TRRAP	7	98555694	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	28002	98555694	60582969	6195	9811											
TRRAP	8295	broad.mit.edu	37	7	98562283	98562283	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:98562283C>T	ENST00000359863.4	+	47	7049	c.6840C>T	c.(6838-6840)agC>agT	p.S2280S	TRRAP_ENST00000446306.3_Silent_p.S2261S|TRRAP_ENST00000355540.3_Silent_p.S2262S	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	2280	Interaction with TP53.				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			CTGCCTGCAGCAACAACCCCA	0.478													21	79					0	0	1	0	0	T	98562283	C	T	98562283	2	4	81	1	0	0	0	0	0	0	0	1	16662	709	25	2		2	TRRAP	7	98562283	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	6589	98562283	60576380	6196	9812											
TRRAP	8295	broad.mit.edu	37	7	98564774	98564774	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:98564774C>T	ENST00000359863.4	+	49	7475	c.7266C>T	c.(7264-7266)aaC>aaT	p.N2422N	TRRAP_ENST00000446306.3_Silent_p.N2404N|TRRAP_ENST00000355540.3_Silent_p.N2404N	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	2422					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			ATCTTGTTAACTATGTCTACA	0.393													14	110					0	0	1	0	0	T	98564774	C	T	98564774	2	4	81	1	0	0	0	0	0	0	0	1	16662	564	20	2		2	TRRAP	7	98564774	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2491	98564774	60573889	6197	9813											
TRRAP	8295	broad.mit.edu	37	7	98606006	98606006	+	Missense_Mutation	SNP	G	G	T	rs141778269		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:98606006G>T	ENST00000359863.4	+	69	10927	c.10718G>T	c.(10717-10719)cGg>cTg	p.R3573L	TRRAP_ENST00000446306.3_Missense_Mutation_p.R3562L|TRRAP_ENST00000355540.3_Missense_Mutation_p.R3544L	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	3573	PI3K/PI4K.				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			CCAGTGCCCCGGGTTGTGGCA	0.627													7	110					3.09899e-07	3.60815e-07	1	1	0	T	98606006	G	T	98606006	3	4	81	1	0	0	0	0	1	0	0	0	16662	1116	39	5	10897	5	TRRAP	7	98606006	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	41232	98606006	60532657	6198	9814											
SMURF1	57154	broad.mit.edu	37	7	98645338	98645338	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:98645338C>T	ENST00000361125.1	-	11	1518	c.1199G>A	c.(1198-1200)cGc>cAc	p.R400H	AC004893.11_ENST00000482799.2_RNA|AC004893.11_ENST00000468960.2_RNA|SMURF1_ENST00000361368.2_Missense_Mutation_p.R374H	NM_020429.2	NP_065162.1	Q9HCE7	SMUF1_HUMAN	SMAD specific E3 ubiquitin protein ligase 1	400					BMP signaling pathway|cell differentiation|ectoderm development|negative regulation of BMP signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process|protein export from nucleus|protein localization at cell surface|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent SMAD protein catabolic process	cytosol|plasma membrane	activin binding|I-SMAD binding|R-SMAD binding|ubiquitin-protein ligase activity			endometrium(3)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|urinary_tract(1)	25	all_cancers(62;1.05e-08)|all_epithelial(64;4.34e-09)|Lung NSC(181;0.00902)|all_lung(186;0.0145)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)|Lung(104;0.224)			CACTTCGATGCGGCAATGACC	0.498													64	62					0	0	1	0	0	T	98645338	C	T	98645338	3	4	81	1	0	0	0	0	1	0	0	0	14873	768	27	1	1110	1	SMURF1	7	98645338	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	39332	98645338	60493325	6199	9815											
BUD31	8896	broad.mit.edu	37	7	99013877	99013877	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:99013877A>T	ENST00000403633.2	+	4	740	c.211A>T	c.(211-213)Agc>Tgc	p.S71C	BUD31_ENST00000222969.5_Missense_Mutation_p.S71C|BUD31_ENST00000431419.1_Missense_Mutation_p.S42C|BUD31_ENST00000456893.1_Intron			P41223	BUD31_HUMAN	BUD31 homolog (S. cerevisiae)	71					regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity			autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|ovary(1)	4	all_cancers(62;1.76e-08)|all_epithelial(64;1.63e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)			GAAAGCCATCAGCAGAGGTAA	0.473													5	121					0	0	1	0	0	T	99013877	A	T	99013877	3	4	81	1	0	0	0	0	1	0	0	0	1577	188	7	5	217	5	BUD31	7	99013877	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	368539	99013877	60124786	6200	9816											
PTCD1	26024	broad.mit.edu	37	7	99022750	99022750	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:99022750C>A	ENST00000292478.4	-	6	1655	c.1405G>T	c.(1405-1407)Ggg>Tgg	p.G469W	PTCD1_ENST00000555673.1_Missense_Mutation_p.G518W|ATP5J2-PTCD1_ENST00000413834.1_Missense_Mutation_p.G518W	NM_015545.3	NP_056360.2			pentatricopeptide repeat domain 1											endometrium(5)|large_intestine(3)|lung(16)|ovary(2)|skin(1)	27	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)			TCCAGGCCCCCTATCAAGGCC	0.657													9	75					0.000274275	0.000297259	1	1	0	A	99022750	C	A	99022750	3	1	81	1	0	0	0	0	1	0	0	0	12776	681	24	4	709	4	PTCD1	7	99022750	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	8873	99022750	60115913	6201	9817											
PTCD1	26024	broad.mit.edu	37	7	99026725	99026725	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:99026725C>A	ENST00000292478.4	-	5	1166		c.e5+1		PTCD1_ENST00000555673.1_Splice_Site|PTCD1_ENST00000485746.1_5'UTR|ATP5J2-PTCD1_ENST00000413834.1_Splice_Site	NM_015545.3	NP_056360.2			pentatricopeptide repeat domain 1											endometrium(5)|large_intestine(3)|lung(16)|ovary(2)|skin(1)	27	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)			GAGGGACATACCTGGAGGGCG	0.572													88	61					4.21773e-46	5.6729e-46	1	1	0	A	99026725	C	A	99026725	5	1	81	1	0	0	0	0	0	0	1	0	12776	521	18	5	1202	5	PTCD1	7	99026725	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3975	99026725	60111938	6202	9818											
PTCD1	26024	broad.mit.edu	37	7	99032629	99032629	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:99032629C>A	ENST00000292478.4	-	2	487	c.237G>T	c.(235-237)caG>caT	p.Q79H	PTCD1_ENST00000555673.1_Missense_Mutation_p.Q128H|PTCD1_ENST00000485746.1_5'UTR|ATP5J2-PTCD1_ENST00000413834.1_Missense_Mutation_p.Q128H	NM_015545.3	NP_056360.2			pentatricopeptide repeat domain 1											endometrium(5)|large_intestine(3)|lung(16)|ovary(2)|skin(1)	27	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)			CGTCTTCTTCCTGCGTGGCCG	0.607													8	82					1.12685e-05	1.27052e-05	1	1	0	A	99032629	C	A	99032629	3	1	81	1	0	0	0	0	1	0	0	0	12776	680	24	4	1893	4	PTCD1	7	99032629	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	5904	99032629	60106034	6203	9819											
CPSF4	10898	broad.mit.edu	37	7	99042455	99042455	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:99042455C>T	ENST00000436336.2	+	2	308	c.147C>T	c.(145-147)tgC>tgT	p.C49C	CPSF4_ENST00000441580.1_5'UTR|CPSF4_ENST00000451876.1_Silent_p.C49C|PTCD1_ENST00000555673.1_Intron|CPSF4_ENST00000292476.5_Silent_p.C49C|ATP5J2-PTCD1_ENST00000437572.1_Intron|ATP5J2-PTCD1_ENST00000413834.1_Intron|CPSF4_ENST00000471455.1_3'UTR	NM_001081559.1|NM_006693.2	NP_001075028.1|NP_006684.1	O95639	CPSF4_HUMAN	cleavage and polyadenylation specific factor 4, 30kDa	49					modification by virus of host mRNA processing|mRNA processing|viral infectious cycle	mRNA cleavage and polyadenylation specificity factor complex	RNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(5)	14	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					AAGCTGCCTGCGGCAAAGGTA	0.547													61	239					0	0	1	0	0	T	99042455	C	T	99042455	2	4	81	1	0	0	0	0	0	0	0	1	3851	776	27	1		1	CPSF4	7	99042455	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	9826	99042455	60096208	6204	9820											
CPSF4	10898	broad.mit.edu	37	7	99051747	99051747	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:99051747C>T	ENST00000436336.2	+	7	815	c.654C>T	c.(652-654)gtC>gtT	p.V218V	CPSF4_ENST00000441580.1_Silent_p.V165V|ATP5J2_ENST00000466753.1_Intron|CPSF4_ENST00000451876.1_Silent_p.V185V|PTCD1_ENST00000555673.1_Intron|CPSF4_ENST00000292476.5_Silent_p.V243V|ATP5J2-PTCD1_ENST00000437572.1_Intron|ATP5J2-PTCD1_ENST00000413834.1_Intron	NM_001081559.1|NM_006693.2	NP_001075028.1|NP_006684.1	O95639	CPSF4_HUMAN	cleavage and polyadenylation specific factor 4, 30kDa	243					modification by virus of host mRNA processing|mRNA processing|viral infectious cycle	mRNA cleavage and polyadenylation specificity factor complex	RNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(5)	14	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					TGGAGCAGGTCACCTGTTACA	0.602													20	64					0	0	1	0	0	T	99051747	C	T	99051747	2	4	81	1	0	0	0	0	0	0	0	1	3851	813	29	2		2	CPSF4	7	99051747	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	9292	99051747	60086916	6205	9821											
ZKSCAN5	23660	broad.mit.edu	37	7	99123670	99123670	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:99123670C>A	ENST00000394170.2	+	6	1258	c.1007C>A	c.(1006-1008)cCt>cAt	p.P336H	ZKSCAN5_ENST00000326775.5_Missense_Mutation_p.P336H|ZKSCAN5_ENST00000451158.1_Missense_Mutation_p.P336H	NM_014569.3	NP_055384.1	Q9Y2L8	ZKSC5_HUMAN	zinc finger with KRAB and SCAN domains 5	336					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	21	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					GACATCAGCCCTAAGCAAAGC	0.507													7	55					1.06961e-07	1.25755e-07	1	1	0	A	99123670	C	A	99123670	3	1	81	1	0	0	0	0	1	0	0	0	17748	681	24	4	1025	4	ZKSCAN5	7	99123670	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	71923	99123670	60014993	6206	9822											
ZKSCAN5	23660	broad.mit.edu	37	7	99129118	99129118	+	Missense_Mutation	SNP	G	G	A	rs141273536		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:99129118G>A	ENST00000394170.2	+	7	2017	c.1766G>A	c.(1765-1767)cGc>cAc	p.R589H	ZKSCAN5_ENST00000326775.5_Missense_Mutation_p.R589H|ZKSCAN5_ENST00000451158.1_Missense_Mutation_p.R589H	NM_014569.3	NP_055384.1	Q9Y2L8	ZKSC5_HUMAN	zinc finger with KRAB and SCAN domains 5	589					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R589H(1)		breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	21	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					TACAACCAACGCGTGCACCTA	0.488													15	38					0	0	1	0	0	A	99129118	G	A	99129118	3	1	81	1	0	0	0	0	1	0	0	0	17748	1087	38	1	1788	1	ZKSCAN5	7	99129118	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	5448	99129118	60009545	6207	9823											
ZSCAN21	7589	broad.mit.edu	37	7	99654957	99654957	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:99654957C>T	ENST00000292450.4	+	2	492	c.328C>T	c.(328-330)Ccg>Tcg	p.P110S	ZSCAN21_ENST00000477297.1_3'UTR|ZSCAN21_ENST00000543588.1_Missense_Mutation_p.P110S|ZSCAN21_ENST00000456748.2_Missense_Mutation_p.P110S	NM_145914.2	NP_666019.1	Q9Y5A6	ZSC21_HUMAN	zinc finger and SCAN domain containing 21	110	SCAN box.				positive regulation of transcription, DNA-dependent|viral reproduction	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|skin(1)	21	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			GGAGCATTGCCCGGAGAGCGC	0.592													7	25					0	0	1	0	0	T	99654957	C	T	99654957	3	4	81	1	0	0	0	0	1	0	0	0	18274	623	22	2	330	2	ZSCAN21	7	99654957	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	525839	99654957	59483706	6208	9824											
ZNF3	7551	broad.mit.edu	37	7	99669446	99669446	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:99669446T>G	ENST00000303915.6	-	5	1628	c.661A>C	c.(661-663)Atc>Ctc	p.I221L	ZNF3_ENST00000299667.4_Missense_Mutation_p.I221L|ZNF3_ENST00000424697.1_Missense_Mutation_p.I221L|ZNF3_ENST00000413658.2_Intron			P17036	ZNF3_HUMAN	zinc finger protein 3	221					cell differentiation|leukocyte activation|multicellular organismal development	nucleus	DNA binding|identical protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.I221V(1)		NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(8)|ovary(1)|skin(2)	25	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)	Ovarian(593;2.06e-05)|Myeloproliferative disorder(862;0.0122)|Breast(660;0.029)	STAD - Stomach adenocarcinoma(171;0.129)			CCAGTGTGGATTCTCTGATGT	0.463													6	103					0	0	1	0	0	G	99669446	T	G	99669446	3	3	81	1	0	0	0	0	1	0	0	0	17886	1493	52	4	812	4	ZNF3	7	99669446	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	14489	99669446	59469217	6209	9825											
ZNF3	7551	broad.mit.edu	37	7	99669634	99669634	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:99669634A>G	ENST00000303915.6	-	5	1440	c.473T>C	c.(472-474)gTg>gCg	p.V158A	ZNF3_ENST00000299667.4_Missense_Mutation_p.V158A|ZNF3_ENST00000424697.1_Missense_Mutation_p.V158A|ZNF3_ENST00000413658.2_Intron			P17036	ZNF3_HUMAN	zinc finger protein 3	158					cell differentiation|leukocyte activation|multicellular organismal development	nucleus	DNA binding|identical protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(8)|ovary(1)|skin(2)	25	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)	Ovarian(593;2.06e-05)|Myeloproliferative disorder(862;0.0122)|Breast(660;0.029)	STAD - Stomach adenocarcinoma(171;0.129)			CTCAACTGTCACTTGACCAAA	0.453													19	252					0	0	1	0	0	G	99669634	A	G	99669634	3	3	81	1	0	0	0	0	1	0	0	0	17886	159	6	3	1000	3	ZNF3	7	99669634	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	188	99669634	59469029	6210	9826											
ZNF3	7551	broad.mit.edu	37	7	99673193	99673193	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:99673193G>A	ENST00000303915.6	-	3	1083	c.116C>T	c.(115-117)gCg>gTg	p.A39V	ZNF3_ENST00000299667.4_Missense_Mutation_p.A39V|ZNF3_ENST00000424697.1_Missense_Mutation_p.A39V|ZNF3_ENST00000413658.2_Missense_Mutation_p.A39V			P17036	ZNF3_HUMAN	zinc finger protein 3	39					cell differentiation|leukocyte activation|multicellular organismal development	nucleus	DNA binding|identical protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.A39G(2)		NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(8)|ovary(1)|skin(2)	25	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)	Ovarian(593;2.06e-05)|Myeloproliferative disorder(862;0.0122)|Breast(660;0.029)	STAD - Stomach adenocarcinoma(171;0.129)			GAGCGCAGCCGCCAACATCTC	0.502													5	45					0	0	1	0	0	A	99673193	G	A	99673193	3	1	81	1	0	0	0	0	1	0	0	0	17886	1087	38	1	1365	1	ZNF3	7	99673193	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	3559	99673193	59465470	6211	9827											
COPS6	10980	broad.mit.edu	37	7	99688570	99688570	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:99688570G>T	ENST00000303904.3	+	6	569	c.532G>T	c.(532-534)Gag>Tag	p.E178*	COPS6_ENST00000418625.1_Nonsense_Mutation_p.E177*	NM_006833.4	NP_006824.2	Q7L5N1	CSN6_HUMAN	COP9 signalosome subunit 6	178					cullin deneddylation|interspecies interaction between organisms	cytoplasm|signalosome	protein binding			breast(1)|endometrium(3)|large_intestine(4)|lung(2)|prostate(1)|stomach(1)	12	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			AATCAATGGAGAGGTAATACC	0.478													31	102					9.80977e-26	1.29898e-25	1	1	0	T	99688570	G	T	99688570	4	4	81	1	0	0	0	0	0	1	0	0	3760	943	33	4	554	4	COPS6	7	99688570	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	15377	99688570	59450093	6212	9828											
MCM7	4176	broad.mit.edu	37	7	99690594	99690594	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:99690594C>T	ENST00000303887.5	-	15	2766	c.2121G>A	c.(2119-2121)tgG>tgA	p.W707*	MCM7_ENST00000354230.3_Nonsense_Mutation_p.W531*|MCM7_ENST00000343023.6_Nonsense_Mutation_p.W377*	NM_005916.3	NP_005907.3	P33993	MCM7_HUMAN	minichromosome maintenance complex component 7	707	Interaction with ATRIP.				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of phosphorylation|response to DNA damage stimulus|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|protein binding			endometrium(1)|kidney(5)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	17	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)				Atorvastatin(DB01076)	CATTGACCTGCCAGACATTGA	0.587													36	29					0	0	1	0	0	T	99690594	C	T	99690594	4	4	81	1	0	0	0	0	0	1	0	0	9442	740	26	2	42	2	MCM7	7	99690594	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2024	99690594	59448069	6213	9829											
MCM7	4176	broad.mit.edu	37	7	99695277	99695277	+	Silent	SNP	G	G	A	rs146058965		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:99695277G>A	ENST00000303887.5	-	9	1722	c.1077C>T	c.(1075-1077)gtC>gtT	p.V359V	MCM7_ENST00000354230.3_Silent_p.V183V|MCM7_ENST00000343023.6_Intron	NM_005916.3	NP_005907.3	P33993	MCM7_HUMAN	minichromosome maintenance complex component 7	359	MCM.				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of phosphorylation|response to DNA damage stimulus|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|protein binding	p.V359V(1)|p.V183V(1)		endometrium(1)|kidney(5)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	17	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)				Atorvastatin(DB01076)	CCACACCCCCGACTAGCAGGA	0.502													20	419					0	0	1	0	0	A	99695277	G	A	99695277	2	1	81	1	0	0	0	0	0	0	0	1	9442	1045	37	1		1	MCM7	7	99695277	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	4683	99695277	59443386	6214	9830											
MCM7	4176	broad.mit.edu	37	7	99695537	99695537	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:99695537C>A	ENST00000303887.5	-	8	1550	c.905G>T	c.(904-906)cGg>cTg	p.R302L	MCM7_ENST00000354230.3_Missense_Mutation_p.R126L|MCM7_ENST00000343023.6_Missense_Mutation_p.R302L	NM_005916.3	NP_005907.3	P33993	MCM7_HUMAN	minichromosome maintenance complex component 7	302					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of phosphorylation|response to DNA damage stimulus|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|protein binding			endometrium(1)|kidney(5)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	17	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)				Atorvastatin(DB01076)	CTTCACAATCCGATGGGCTTC	0.522													6	78					0.248553	0.249876	1	1	0	A	99695537	C	A	99695537	3	1	81	1	0	0	0	0	1	0	0	0	9442	652	23	5	1286	5	MCM7	7	99695537	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	260	99695537	59443126	6215	9831											
TAF6	6878	broad.mit.edu	37	7	99710503	99710503	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:99710503G>A	ENST00000344095.4	-	6	1017	c.492C>T	c.(490-492)ccC>ccT	p.P164P	TAF6_ENST00000437822.2_Silent_p.P201P|TAF6_ENST00000452041.1_Silent_p.P164P|TAF6_ENST00000418432.2_Silent_p.P88P|TAF6_ENST00000472509.1_Silent_p.P221P|TAF6_ENST00000453269.2_Silent_p.P164P	NM_005641.3	NP_005632.1	P49848	TAF6_HUMAN	TAF6 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 80kDa	164					negative regulation of cell cycle|negative regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(2)	26	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CTGACTTCAGGGGTTCTGTGG	0.582													29	320					0	0	1	0	0	A	99710503	G	A	99710503	2	1	81	1	0	0	0	0	0	0	0	1	15587	1219	43	2		2	TAF6	7	99710503	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	14966	99710503	59428160	6216	9832											
C7orf43	55262	broad.mit.edu	37	7	99754506	99754506	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:99754506G>T	ENST00000316937.3	-	6	1140	c.955C>A	c.(955-957)Ctg>Atg	p.L319M	C7orf43_ENST00000419841.1_Missense_Mutation_p.L87M|C7orf43_ENST00000457641.1_Missense_Mutation_p.L50M|C7orf43_ENST00000498638.1_5'UTR	NM_018275.3	NP_060745.3	Q8WVR3	CG043_HUMAN	chromosome 7 open reading frame 43	319										breast(1)|endometrium(3)|large_intestine(3)|lung(2)|prostate(1)	10	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CCCCCTCTCAGCTGAAACAGG	0.602													9	114					2.17888e-05	2.43576e-05	1	1	0	T	99754506	G	T	99754506	3	4	81	1	0	0	0	0	1	0	0	0	2409	962	34	4	811	4	C7orf43	7	99754506	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	44003	99754506	59384157	6217	9833											
GAL3ST4	79690	broad.mit.edu	37	7	99757975	99757975	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:99757975C>T	ENST00000360039.4	-	4	1429	c.1037G>A	c.(1036-1038)aGt>aAt	p.S346N	GAL3ST4_ENST00000423751.1_3'UTR|GAL3ST4_ENST00000413800.1_Missense_Mutation_p.S346N|GAL3ST4_ENST00000426974.2_Missense_Mutation_p.S284N|GAL3ST4_ENST00000411994.1_3'UTR	NM_024637.4	NP_078913.3	Q96RP7	G3ST4_HUMAN	galactose-3-O-sulfotransferase 4	346					cell-cell signaling|oligosaccharide metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi cisterna membrane|integral to membrane|membrane fraction	3'-phosphoadenosine 5'-phosphosulfate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(5)|prostate(1)|upper_aerodigestive_tract(1)	26	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					AGTCAGTCCACTGTTGCTGAC	0.612													49	41					0	0	1	0	0	T	99757975	C	T	99757975	3	4	81	1	0	0	0	0	1	0	0	0	6240	565	20	2	427	2	GAL3ST4	7	99757975	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3469	99757975	59380688	6218	9834											
GAL3ST4	79690	broad.mit.edu	37	7	99758203	99758203	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:99758203C>T	ENST00000360039.4	-	4	1201	c.809G>A	c.(808-810)cGc>cAc	p.R270H	GAL3ST4_ENST00000423751.1_Missense_Mutation_p.A169T|GAL3ST4_ENST00000413800.1_Missense_Mutation_p.R270H|GAL3ST4_ENST00000426974.2_Missense_Mutation_p.R208H|GAL3ST4_ENST00000411994.1_Missense_Mutation_p.A169T	NM_024637.4	NP_078913.3	Q96RP7	G3ST4_HUMAN	galactose-3-O-sulfotransferase 4	270					cell-cell signaling|oligosaccharide metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi cisterna membrane|integral to membrane|membrane fraction	3'-phosphoadenosine 5'-phosphosulfate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(5)|prostate(1)|upper_aerodigestive_tract(1)	26	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TATCTGGCTGCGATGATCAGT	0.557													51	151					0	0	1	0	0	T	99758203	C	T	99758203	3	4	81	1	0	0	0	0	1	0	0	0	6240	768	27	1	655	1	GAL3ST4	7	99758203	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	228	99758203	59380460	6219	9835											
STAG3	10734	broad.mit.edu	37	7	99794891	99794891	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:99794891C>A	ENST00000426455.1	+	10	1461	c.1054C>A	c.(1054-1056)Ctg>Atg	p.L352M	STAG3_ENST00000317296.5_Missense_Mutation_p.L352M|STAG3_ENST00000394018.2_Missense_Mutation_p.L294M	NM_001282716.1	NP_001269645.1	Q9UJ98	STAG3_HUMAN	stromal antigen 3	352	SCD.				chromosome segregation|synaptonemal complex assembly	chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex	binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	66	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TGGTTGGACTCTGCATGATAA	0.453													16	351					1.99824e-07	2.33645e-07	1	1	0	A	99794891	C	A	99794891	3	1	81	1	0	0	0	0	1	0	0	0	15300	912	32	4	1088	4	STAG3	7	99794891	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	36688	99794891	59343772	6220	9836											
STAG3	10734	broad.mit.edu	37	7	99800141	99800141	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:99800141G>A	ENST00000426455.1	+	25	3035	c.2628G>A	c.(2626-2628)ggG>ggA	p.G876G	GATS_ENST00000436886.2_3'UTR|STAG3_ENST00000440830.1_3'UTR|STAG3_ENST00000317296.5_Silent_p.G876G|GATS_ENST00000543273.1_RNA|STAG3_ENST00000394018.2_Silent_p.G818G	NM_001282716.1	NP_001269645.1	Q9UJ98	STAG3_HUMAN	stromal antigen 3	876					chromosome segregation|synaptonemal complex assembly	chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex	binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	66	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TCCTAGCCGGGTTCTGCAAGC	0.512													137	116					0	0	1	0	0	A	99800141	G	A	99800141	2	1	81	1	0	0	0	0	0	0	0	1	15300	1248	44	2		2	STAG3	7	99800141	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	5250	99800141	59338522	6221	9837											
ZCWPW1	55063	broad.mit.edu	37	7	100006188	100006188	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:100006188G>T	ENST00000398027.2	-	10	1210	c.963C>A	c.(961-963)atC>atA	p.I321I	ZCWPW1_ENST00000324725.6_Silent_p.I201I|ZCWPW1_ENST00000490721.1_Silent_p.I201I|ZCWPW1_ENST00000360951.4_Silent_p.I322I	NM_017984.4	NP_060454.3	Q9H0M4	ZCPW1_HUMAN	zinc finger, CW type with PWWP domain 1	321	PWWP.						zinc ion binding			breast(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GCTTGGCCCAGATGATGGATC	0.512													68	59					1.88737e-50	2.54098e-50	1	1	0	T	100006188	G	T	100006188	2	4	81	1	0	0	0	0	0	0	0	1	17655	932	33	4		4	ZCWPW1	7	100006188	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	206047	100006188	59132475	6222	9838											
ZCWPW1	55063	broad.mit.edu	37	7	100016806	100016806	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:100016806A>C	ENST00000398027.2	-	5	536	c.289T>G	c.(289-291)Tca>Gca	p.S97A	ZCWPW1_ENST00000324725.6_5'UTR|ZCWPW1_ENST00000490721.1_5'UTR|ZCWPW1_ENST00000360951.4_Missense_Mutation_p.S97A	NM_017984.4	NP_060454.3	Q9H0M4	ZCPW1_HUMAN	zinc finger, CW type with PWWP domain 1	97							zinc ion binding			breast(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GTAAGACTTGATTTTTCCTGC	0.453													33	85					0	0	1	0	0	C	100016806	A	C	100016806	3	2	81	1	0	0	0	0	1	0	0	0	17655	333	12	4	1713	4	ZCWPW1	7	100016806	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	10618	100016806	59121857	6223	9839											
MEPCE	56257	broad.mit.edu	37	7	100028273	100028273	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:100028273C>T	ENST00000310512.2	+	1	1020	c.632C>T	c.(631-633)gCg>gTg	p.A211V	MEPCE_ENST00000414441.1_5'UTR	NM_019606.5	NP_062552.2	Q7L2J0	MEPCE_HUMAN	methylphosphate capping enzyme	211							methyltransferase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(9)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					ACTCTCAACGCGGAGACCCCT	0.552													42	100					0	0	1	0	0	T	100028273	C	T	100028273	3	4	81	1	0	0	0	0	1	0	0	0	9527	768	27	1	634	1	MEPCE	7	100028273	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	11467	100028273	59110390	6224	9840											
TSC22D4	81628	broad.mit.edu	37	7	100071955	100071955	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:100071955A>C	ENST00000300181.2	-	3	1625	c.871T>G	c.(871-873)Ttc>Gtc	p.F291V	TSC22D4_ENST00000393991.1_Missense_Mutation_p.F52V|TSC22D4_ENST00000496728.1_5'UTR	NM_030935.3	NP_112197.1	Q9Y3Q8	T22D4_HUMAN	TSC22 domain family, member 4	291					negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|urinary_tract(1)	8	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GCCAGGCTGAACTTCTGAGCT	0.597													52	39					0	0	1	0	0	C	100071955	A	C	100071955	3	2	81	1	0	0	0	0	1	0	0	0	16671	43	2	5	328	5	TSC22D4	7	100071955	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	43682	100071955	59066708	6225	9841											
AGFG2	3268	broad.mit.edu	37	7	100153290	100153290	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:100153290G>T	ENST00000300176.4	+	6	931	c.809G>T	c.(808-810)aGc>aTc	p.S270I	AGFG2_ENST00000474713.1_3'UTR|AGFG2_ENST00000262935.4_3'UTR	NM_006076.4	NP_006067.3	O95081	AGFG2_HUMAN	ArfGAP with FG repeats 2	270					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						AGTGGCCCCAGCTCTTCTGTG	0.522													9	143					2.62144e-13	3.30369e-13	1	1	0	T	100153290	G	T	100153290	3	4	81	1	0	0	0	0	1	0	0	0	378	971	34	4	831	4	AGFG2	7	100153290	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	81335	100153290	58985373	6226	9842											
AGFG2	3268	broad.mit.edu	37	7	100160220	100160220	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:100160220C>A	ENST00000300176.4	+	8	1124	c.1002C>A	c.(1000-1002)ctC>ctA	p.L334L	AGFG2_ENST00000474713.1_3'UTR|AGFG2_ENST00000262935.4_3'UTR	NM_006076.4	NP_006067.3	O95081	AGFG2_HUMAN	ArfGAP with FG repeats 2	334					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GTTGTAGCCTCTTCGGGATGG	0.642													5	39					0.0215528	0.0221217	1	1	0	A	100160220	C	A	100160220	2	1	81	1	0	0	0	0	0	0	0	1	378	900	32	4		4	AGFG2	7	100160220	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	6930	100160220	58978443	6227	9843											
AGFG2	3268	broad.mit.edu	37	7	100162563	100162563	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:100162563C>A	ENST00000300176.4	+	12	1517	c.1395C>A	c.(1393-1395)ccC>ccA	p.P465P	AGFG2_ENST00000474713.1_3'UTR|AGFG2_ENST00000262935.4_3'UTR	NM_006076.4	NP_006067.3	O95081	AGFG2_HUMAN	ArfGAP with FG repeats 2	465					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						AGACTGGACCCTCATCAAGCC	0.517											OREG0018204	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	204					0.00621372	0.00649472	1	1	0	A	100162563	C	A	100162563	2	1	81	1	0	0	0	0	0	0	0	1	378	668	24	4		4	AGFG2	7	100162563	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2343	100162563	58976100	6228	9844											
FBXO24	26261	broad.mit.edu	37	7	100190525	100190525	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:100190525C>A	ENST00000241071.6	+	5	1000	c.678C>A	c.(676-678)gtC>gtA	p.V226V	PCOLCE-AS1_ENST00000442166.2_RNA|FBXO24_ENST00000465843.1_Silent_p.V212V|FBXO24_ENST00000468962.1_Silent_p.V214V|FBXO24_ENST00000427939.2_Silent_p.V264V|FBXO24_ENST00000360609.2_Silent_p.V212V|PCOLCE-AS1_ENST00000544873.1_RNA	NM_033506.2	NP_277041.1	O75426	FBX24_HUMAN	F-box protein 24	226						ubiquitin ligase complex	ubiquitin-protein ligase activity			NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2)	28	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					GTGTTGAGGTCTATCTGCAGT	0.567													18	52					9.16793e-09	1.09544e-08	1	1	0	A	100190525	C	A	100190525	2	1	81	1	0	0	0	0	0	0	0	1	5768	900	32	4		4	FBXO24	7	100190525	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	27962	100190525	58948138	6229	9845											
FBXO24	26261	broad.mit.edu	37	7	100198336	100198336	+	Silent	SNP	C	C	T	rs139735860		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:100198336C>T	ENST00000241071.6	+	10	1879	c.1557C>T	c.(1555-1557)tgC>tgT	p.C519C	PCOLCE-AS1_ENST00000442166.2_RNA|FBXO24_ENST00000468962.1_Silent_p.C507C|FBXO24_ENST00000427939.2_Silent_p.C557C|FBXO24_ENST00000360609.2_3'UTR|PCOLCE-AS1_ENST00000544873.1_RNA	NM_033506.2	NP_277041.1	O75426	FBX24_HUMAN	F-box protein 24	519						ubiquitin ligase complex	ubiquitin-protein ligase activity			NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2)	28	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					CCCAGGCCTGCGAGGAGTACC	0.667													32	23					0	0	1	0	0	T	100198336	C	T	100198336	2	4	81	1	0	0	0	0	0	0	0	1	5768	776	27	1		1	FBXO24	7	100198336	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	7811	100198336	58940327	6230	9846											
PCOLCE	5118	broad.mit.edu	37	7	100205657	100205657	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:100205657G>T	ENST00000223061.5	+	9	1561	c.1281G>T	c.(1279-1281)caG>caT	p.Q427H		NM_002593.3	NP_002584.2	Q15113	PCOC1_HUMAN	procollagen C-endopeptidase enhancer	427	NTR.				multicellular organismal development	extracellular space	collagen binding|heparin binding|peptidase activator activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	23	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					ACCAGGACCAGATCCTCACCA	0.617													25	63					2.21704e-12	2.77053e-12	1	1	0	T	100205657	G	T	100205657	3	4	81	1	0	0	0	0	1	0	0	0	11641	933	33	4	1315	4	PCOLCE	7	100205657	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	7321	100205657	58933006	6231	9847											
MOSPD3	64598	broad.mit.edu	37	7	100211276	100211276	+	Missense_Mutation	SNP	G	G	A	rs144565703		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:100211276G>A	ENST00000393950.2	+	3	740	c.458G>A	c.(457-459)cGc>cAc	p.R153H	MOSPD3_ENST00000424091.2_Missense_Mutation_p.R143H|MOSPD3_ENST00000223054.4_Missense_Mutation_p.R153H|MOSPD3_ENST00000379527.2_Missense_Mutation_p.R153H	NM_023948.4	NP_076438.1	O75425	MSPD3_HUMAN	motile sperm domain containing 3	153						integral to membrane	structural molecule activity	p.R153H(1)		breast(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					CCAGCGCCTCGCCCAGGGCCT	0.627													18	37					0	0	1	0	0	A	100211276	G	A	100211276	3	1	81	1	0	0	0	0	1	0	0	0	9766	1087	38	1	468	1	MOSPD3	7	100211276	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	5619	100211276	58927387	6232	9848											
TFR2	7036	broad.mit.edu	37	7	100218520	100218520	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:100218520G>A	ENST00000462107.1	-	19	2653	c.2366C>T	c.(2365-2367)gCg>gTg	p.A789V	TFR2_ENST00000544242.1_Missense_Mutation_p.A330V|TFR2_ENST00000431692.1_3'UTR|TFR2_ENST00000223051.3_Missense_Mutation_p.A789V			Q9UP52	TFR2_HUMAN	transferrin receptor 2	789					cellular iron ion homeostasis|iron ion transport|proteolysis	cytoplasm|integral to plasma membrane	peptidase activity|transferrin receptor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					CCCGCTAAGCGCATTGGCTGC	0.632													17	35					0	0	1	0	0	A	100218520	G	A	100218520	3	1	81	1	0	0	0	0	1	0	0	0	15871	1087	38	1	43	1	TFR2	7	100218520	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	7244	100218520	58920143	6233	9849											
TFR2	7036	broad.mit.edu	37	7	100228540	100228540	+	Missense_Mutation	SNP	G	G	A	rs150883560	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:100228540G>A	ENST00000431692.1	-	7	1025	c.985C>T	c.(985-987)Cgg>Tgg	p.R329W	TFR2_ENST00000544242.1_5'UTR|TFR2_ENST00000223051.3_Silent_p.F414F|TFR2_ENST00000462107.1_Silent_p.F414F			Q9UP52	TFR2_HUMAN	transferrin receptor 2	0					cellular iron ion homeostasis|iron ion transport|proteolysis	cytoplasm|integral to plasma membrane	peptidase activity|transferrin receptor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					CGATGCAGCCGAAGATGTTGT	0.602													4	59					0	0	1	0	0	A	100228540	G	A	100228540	3	1	81	1	0	0	0	0	1	0	0	0	15871	1049	37	1	1203	1	TFR2	7	100228540	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	10020	100228540	58910123	6234	9850											
TFR2	7036	broad.mit.edu	37	7	100238479	100238479	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:100238479G>A	ENST00000462107.1	-	4	590	c.303C>T	c.(301-303)taC>taT	p.Y101Y	TFR2_ENST00000431692.1_Silent_p.Y101Y|TFR2_ENST00000223051.3_Silent_p.Y101Y			Q9UP52	TFR2_HUMAN	transferrin receptor 2	101					cellular iron ion homeostasis|iron ion transport|proteolysis	cytoplasm|integral to plasma membrane	peptidase activity|transferrin receptor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					GGAAGGCGACGTAGCCCAGTA	0.597													5	61					0	0	1	0	0	A	100238479	G	A	100238479	2	1	81	1	0	0	0	0	0	0	0	1	15871	1140	40	1		1	TFR2	7	100238479	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	9939	100238479	58900184	6235	9851											
ACTL6B	51412	broad.mit.edu	37	7	100244418	100244418	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:100244418C>T	ENST00000160382.5	-	11	1079	c.973G>A	c.(973-975)Gtg>Atg	p.V325M		NM_016188.4	NP_057272.1	O94805	ACL6B_HUMAN	actin-like 6B	325					chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nBAF complex|SWI/SNF complex	ATP binding|protein binding|structural constituent of cytoskeleton			endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|skin(1)	13	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					GTGGTCACCACGTGGCCCACA	0.652													9	41					0	0	1	0	0	T	100244418	C	T	100244418	3	4	81	1	0	0	0	0	1	0	0	0	199	536	19	1	323	1	ACTL6B	7	100244418	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	5939	100244418	58894245	6236	9852											
ACTL6B	51412	broad.mit.edu	37	7	100253147	100253147	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:100253147C>A	ENST00000160382.5	-	3	271	c.165G>T	c.(163-165)gaG>gaT	p.E55D		NM_016188.4	NP_057272.1	O94805	ACL6B_HUMAN	actin-like 6B	55	Essential for mediating its function in dendritic development; may contribute to neuronal-specific targeting (By similarity).				chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nBAF complex|SWI/SNF complex	ATP binding|protein binding|structural constituent of cytoskeleton			endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|skin(1)	13	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					CTTTGTCCCCCTCCAGCTCCA	0.637													5	68					0.0293803	0.0300537	1	1	0	A	100253147	C	A	100253147	3	1	81	1	0	0	0	0	1	0	0	0	199	680	24	4	1163	4	ACTL6B	7	100253147	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	8729	100253147	58885516	6237	9853											
GNB2	2783	broad.mit.edu	37	7	100276322	100276322	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:100276322C>T	ENST00000303210.4	+	10	1403	c.921C>T	c.(919-921)gtC>gtT	p.V307V	GNB2_ENST00000424361.1_Silent_p.V263V|GNB2_ENST00000393924.1_Silent_p.V307V|GNB2_ENST00000419828.1_Silent_p.V207V|GNB2_ENST00000427895.1_Silent_p.V207V|GNB2_ENST00000393926.1_Silent_p.V307V|GNB2_ENST00000436220.1_Silent_p.V263V	NM_005273.3	NP_005264.2	P62879	GBB2_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 2	307					cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|synaptic transmission	perinuclear region of cytoplasm|plasma membrane	GTPase activity|GTPase binding|signal transducer activity			endometrium(1)|lung(3)|ovary(2)|prostate(1)	7	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)	Ovarian(593;0.238)				TCACAGGAGTCCTCGCTGGCC	0.647													45	39					0	0	1	0	0	T	100276322	C	T	100276322	2	4	81	1	0	0	0	0	0	0	0	1	6559	842	30	2		2	GNB2	7	100276322	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	23175	100276322	58862341	6238	9854											
GIGYF1	64599	broad.mit.edu	37	7	100280061	100280061	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:100280061G>A	ENST00000275732.5	-	21	3854	c.2645C>T	c.(2644-2646)aCg>aTg	p.T882M		NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN	GRB10 interacting GYF protein 1	882								p.T882M(1)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					TTCTTCCTCCGTCTTTTTGCG	0.617													21	22					0	0	1	0	0	A	100280061	G	A	100280061	3	1	81	1	0	0	0	0	1	0	0	0	6419	1145	40	1	478	1	GIGYF1	7	100280061	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	3739	100280061	58858602	6239	9855											
ZAN	7455	broad.mit.edu	37	7	100344289	100344289	+	RNA	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:100344289C>T	ENST00000542585.1	+	0	1043				ZAN_ENST00000348028.3_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546213.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			GGGCCAGTCTCCTGGTGCAGC	0.552													7	171					0	0	1	0	0	T	100344289	C	T	100344289	1	4	81	0	1	0	0	0	0	0	0	0	17573	855	30	2		2	ZAN	7	100344289	RNA	SNP	C	TCGA-DU-6392-01A-11D-1705-08	64228	100344289	58794374	6240	9856											
ZAN	7455	broad.mit.edu	37	7	100373104	100373104	+	RNA	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:100373104G>T	ENST00000542585.1	+	0	6079				ZAN_ENST00000348028.3_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546213.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			AGCATGAGAAGGAGGAAGGTG	0.557													10	23					0.361761	0.363003	1	1	0	T	100373104	G	T	100373104	1	4	81	0	1	0	0	0	0	0	0	0	17573	991	35	4		4	ZAN	7	100373104	RNA	SNP	G	TCGA-DU-6392-01A-11D-1705-08	28815	100373104	58765559	6241	9857											
EPHB4	2050	broad.mit.edu	37	7	100410454	100410454	+	Missense_Mutation	SNP	C	C	T	rs55692440		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:100410454C>T	ENST00000358173.3	-	12	2501	c.2033G>A	c.(2032-2034)cGc>cAc	p.R678H	EPHB4_ENST00000360620.3_Missense_Mutation_p.R678H	NM_004444.4	NP_004435.3	P54760	EPHB4_HUMAN	EPH receptor B4	678	Protein kinase.		R -> H (in dbSNP:rs55692440).		cell proliferation|organ morphogenesis|regulation of angiogenesis	cell surface|integral to plasma membrane	ATP binding|ephrin receptor activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47	Lung NSC(181;0.041)|all_lung(186;0.0581)					GCCCTCCAGGCGGATGATATT	0.612													31	72					0	0	1	0	0	T	100410454	C	T	100410454	3	4	81	1	0	0	0	0	1	0	0	0	5205	768	27	1	954	1	EPHB4	7	100410454	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	37350	100410454	58728209	6242	9858											
SLC12A9	56996	broad.mit.edu	37	7	100452273	100452273	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:100452273G>T	ENST00000354161.3	+	3	338	c.213G>T	c.(211-213)caG>caT	p.Q71H	SLC12A9_ENST00000415287.1_Intron|SLC12A9_ENST00000428758.1_Missense_Mutation_p.Q71H|SLC12A9_ENST00000540482.1_Missense_Mutation_p.Q71H|SLC12A9_ENST00000275729.3_Intron	NM_020246.3	NP_064631.2	Q9BXP2	S12A9_HUMAN	solute carrier family 12, member 9	71						integral to membrane|plasma membrane	cation:chloride symporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(20)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	41	Lung NSC(181;0.041)|all_lung(186;0.0581)					GGCTACTGCAGGCCCTGGCCA	0.632													5	97					0.0215528	0.0221217	1	1	0	T	100452273	G	T	100452273	3	4	81	1	0	0	0	0	1	0	0	0	14445	991	35	4	219	4	SLC12A9	7	100452273	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	41819	100452273	58686390	6243	9859											
SLC12A9	56996	broad.mit.edu	37	7	100453411	100453411	+	Missense_Mutation	SNP	G	G	A	rs145345547		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:100453411G>A	ENST00000354161.3	+	4	525	c.400G>A	c.(400-402)Gtc>Atc	p.V134I	SLC12A9_ENST00000415287.1_Intron|SLC12A9_ENST00000428758.1_Missense_Mutation_p.V134I|SLC12A9_ENST00000540482.1_Missense_Mutation_p.V134I|SLC12A9_ENST00000275729.3_Intron	NM_020246.3	NP_064631.2	Q9BXP2	S12A9_HUMAN	solute carrier family 12, member 9	134						integral to membrane|plasma membrane	cation:chloride symporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(20)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	41	Lung NSC(181;0.041)|all_lung(186;0.0581)					TGGCTGTGCCGTCTCCCTCCT	0.622													42	86					0	0	1	0	0	A	100453411	G	A	100453411	3	1	81	1	0	0	0	0	1	0	0	0	14445	1145	40	1	410	1	SLC12A9	7	100453411	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1138	100453411	58685252	6244	9860											
SLC12A9	56996	broad.mit.edu	37	7	100457591	100457591	+	Silent	SNP	G	G	A	rs140502011	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:100457591G>A	ENST00000354161.3	+	8	1187	c.1062G>A	c.(1060-1062)gcG>gcA	p.A354A	SLC12A9_ENST00000475623.1_3'UTR|SLC12A9_ENST00000415287.1_Silent_p.A265A|SLC12A9_ENST00000428758.1_Silent_p.A354A|SLC12A9_ENST00000540482.1_Silent_p.A354A|SLC12A9_ENST00000275729.3_Silent_p.A265A	NM_020246.3	NP_064631.2	Q9BXP2	S12A9_HUMAN	solute carrier family 12, member 9	354						integral to membrane|plasma membrane	cation:chloride symporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(20)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	41	Lung NSC(181;0.041)|all_lung(186;0.0581)					ATGCCACAGCGCTCTCAGCGT	0.597													35	95					0	0	1	0	0	A	100457591	G	A	100457591	2	1	81	1	0	0	0	0	0	0	0	1	14445	1074	38	1		1	SLC12A9	7	100457591	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	4180	100457591	58681072	6245	9861											
SRRT	51593	broad.mit.edu	37	7	100482442	100482442	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:100482442G>A	ENST00000388793.4	+	8	1244	c.1024G>A	c.(1024-1026)Gag>Aag	p.E342K	SRRT_ENST00000347433.4_Missense_Mutation_p.E342K|SRRT_ENST00000457580.2_Missense_Mutation_p.E342K|SRRT_ENST00000432932.1_Missense_Mutation_p.E342K	NM_001128852.1|NM_015908.5	NP_001122324.1|NP_056992.4	Q9BXP5	SRRT_HUMAN	serrate RNA effector molecule homolog (Arabidopsis)	342	Glu-rich.				cell proliferation|primary miRNA processing|response to arsenic-containing substance	cytoplasm|nucleoplasm	protein binding			breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						AGAAGACTCCGAGAAGGAAGC	0.517													6	88					0	0	1	0	0	A	100482442	G	A	100482442	3	1	81	1	0	0	0	0	1	0	0	0	15228	1059	37	1	1050	1	SRRT	7	100482442	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	24851	100482442	58656221	6246	9862											
SRRT	51593	broad.mit.edu	37	7	100485034	100485034	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:100485034G>A	ENST00000388793.4	+	16	2286	c.2066G>A	c.(2065-2067)cGc>cAc	p.R689H	SRRT_ENST00000347433.4_Missense_Mutation_p.R690H|SRRT_ENST00000457580.2_Missense_Mutation_p.R690H|SRRT_ENST00000432932.1_Missense_Mutation_p.R689H	NM_001128852.1|NM_015908.5	NP_001122324.1|NP_056992.4	Q9BXP5	SRRT_HUMAN	serrate RNA effector molecule homolog (Arabidopsis)	690					cell proliferation|primary miRNA processing|response to arsenic-containing substance	cytoplasm|nucleoplasm	protein binding			breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						AAGATGGGGCGCAAAGACCCA	0.552													54	31					0	0	1	0	0	A	100485034	G	A	100485034	3	1	81	1	0	0	0	0	1	0	0	0	15228	1087	38	1	2127	1	SRRT	7	100485034	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2592	100485034	58653629	6247	9863											
ACHE	43	broad.mit.edu	37	7	100490882	100490882	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:100490882G>A	ENST00000302913.4	-	2	1110	c.972C>T	c.(970-972)agC>agT	p.S324S	ACHE_ENST00000419336.2_Silent_p.S324S|ACHE_ENST00000428317.1_Silent_p.S324S|ACHE_ENST00000412389.1_Silent_p.S324S|ACHE_ENST00000241069.5_Silent_p.S324S|ACHE_ENST00000411582.1_Silent_p.S324S	NM_015831.2	NP_056646.1	P22303	ACES_HUMAN	acetylcholinesterase	324					acetylcholine catabolic process in synaptic cleft|amyloid precursor protein metabolic process|cell adhesion|cell proliferation|choline metabolic process|DNA replication|muscle organ development|neurotransmitter biosynthetic process|osteoblast development|positive regulation of protein secretion|regulation of axonogenesis|regulation of dendrite morphogenesis|response to wounding|synapse assembly	anchored to membrane|axon|basal lamina|cell junction|cell surface|dendrite|endoplasmic reticulum lumen|extracellular space|Golgi apparatus|neuromuscular junction|nucleus|perinuclear region of cytoplasm|postsynaptic membrane|presynaptic membrane|synaptic cleft	acetylcholine binding|acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|collagen binding|laminin-1 binding|protein homodimerization activity|serine hydrolase activity			large_intestine(3)|lung(7)|skin(3)|urinary_tract(3)	16	Lung NSC(181;0.041)|all_lung(186;0.0581)				Ambenonium(DB01122)|Atropine(DB00572)|Choline(DB00122)|Decamethonium(DB01245)|Demecarium bromide(DB00944)|Donepezil(DB00843)|Edrophonium(DB01010)|Ephedrine(DB01364)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Isoflurophate(DB00677)|Neostigmine(DB01400)|Physostigmine(DB00981)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Tacrine(DB00382)|Tubocurarine(DB01199)	ACCGGAAGACGCTTTCTTGAG	0.602													9	36					0	0	1	0	0	A	100490882	G	A	100490882	2	1	81	1	0	0	0	0	0	0	0	1	141	1078	38	1		1	ACHE	7	100490882	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	5848	100490882	58647781	6248	9864											
ACHE	43	broad.mit.edu	37	7	100491199	100491199	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:100491199C>T	ENST00000302913.4	-	2	793	c.655G>A	c.(655-657)Gca>Aca	p.A219T	ACHE_ENST00000419336.2_Missense_Mutation_p.A219T|ACHE_ENST00000428317.1_Missense_Mutation_p.A219T|ACHE_ENST00000412389.1_Missense_Mutation_p.A219T|ACHE_ENST00000241069.5_Missense_Mutation_p.A219T|ACHE_ENST00000411582.1_Missense_Mutation_p.A219T	NM_015831.2	NP_056646.1	P22303	ACES_HUMAN	acetylcholinesterase	219					acetylcholine catabolic process in synaptic cleft|amyloid precursor protein metabolic process|cell adhesion|cell proliferation|choline metabolic process|DNA replication|muscle organ development|neurotransmitter biosynthetic process|osteoblast development|positive regulation of protein secretion|regulation of axonogenesis|regulation of dendrite morphogenesis|response to wounding|synapse assembly	anchored to membrane|axon|basal lamina|cell junction|cell surface|dendrite|endoplasmic reticulum lumen|extracellular space|Golgi apparatus|neuromuscular junction|nucleus|perinuclear region of cytoplasm|postsynaptic membrane|presynaptic membrane|synaptic cleft	acetylcholine binding|acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|collagen binding|laminin-1 binding|protein homodimerization activity|serine hydrolase activity			large_intestine(3)|lung(7)|skin(3)|urinary_tract(3)	16	Lung NSC(181;0.041)|all_lung(186;0.0581)				Ambenonium(DB01122)|Atropine(DB00572)|Choline(DB00122)|Decamethonium(DB01245)|Demecarium bromide(DB00944)|Donepezil(DB00843)|Edrophonium(DB01010)|Ephedrine(DB01364)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Isoflurophate(DB00677)|Neostigmine(DB01400)|Physostigmine(DB00981)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Tacrine(DB00382)|Tubocurarine(DB01199)	CCGAAGGCTGCCACGTTCTCC	0.701													18	81					0	0	1	0	0	T	100491199	C	T	100491199	3	4	81	1	0	0	0	0	1	0	0	0	141	739	26	2	1340	2	ACHE	7	100491199	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	317	100491199	58647464	6249	9865											
ACHE	43	broad.mit.edu	37	7	100491612	100491612	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:100491612G>A	ENST00000302913.4	-	2	380	c.242C>T	c.(241-243)cCg>cTg	p.P81L	ACHE_ENST00000419336.2_Missense_Mutation_p.P81L|ACHE_ENST00000428317.1_Missense_Mutation_p.P81L|ACHE_ENST00000412389.1_Missense_Mutation_p.P81L|ACHE_ENST00000241069.5_Missense_Mutation_p.P81L|ACHE_ENST00000411582.1_Missense_Mutation_p.P81L	NM_015831.2	NP_056646.1	P22303	ACES_HUMAN	acetylcholinesterase	81					acetylcholine catabolic process in synaptic cleft|amyloid precursor protein metabolic process|cell adhesion|cell proliferation|choline metabolic process|DNA replication|muscle organ development|neurotransmitter biosynthetic process|osteoblast development|positive regulation of protein secretion|regulation of axonogenesis|regulation of dendrite morphogenesis|response to wounding|synapse assembly	anchored to membrane|axon|basal lamina|cell junction|cell surface|dendrite|endoplasmic reticulum lumen|extracellular space|Golgi apparatus|neuromuscular junction|nucleus|perinuclear region of cytoplasm|postsynaptic membrane|presynaptic membrane|synaptic cleft	acetylcholine binding|acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|collagen binding|laminin-1 binding|protein homodimerization activity|serine hydrolase activity			large_intestine(3)|lung(7)|skin(3)|urinary_tract(3)	16	Lung NSC(181;0.041)|all_lung(186;0.0581)				Ambenonium(DB01122)|Atropine(DB00572)|Choline(DB00122)|Decamethonium(DB01245)|Demecarium bromide(DB00944)|Donepezil(DB00843)|Edrophonium(DB01010)|Ephedrine(DB01364)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Isoflurophate(DB00677)|Neostigmine(DB01400)|Physostigmine(DB00981)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Tacrine(DB00382)|Tubocurarine(DB01199)	CTTGGGCTCCGGTGGCAGAAA	0.622													25	45					0	0	1	0	0	A	100491612	G	A	100491612	3	1	81	1	0	0	0	0	1	0	0	0	141	1116	39	1	1753	1	ACHE	7	100491612	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	413	100491612	58647051	6250	9866											
MUC17	140453	broad.mit.edu	37	7	100674976	100674976	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:100674976G>A	ENST00000306151.4	+	3	343	c.279G>A	c.(277-279)tcG>tcA	p.S93S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	93	Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					AGATGACCTCGATTGAGTCCA	0.488													24	59					0	0	1	0	0	A	100674976	G	A	100674976	2	1	81	1	0	0	0	0	0	0	0	1	10022	1045	37	1		1	MUC17	7	100674976	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	183364	100674976	58463687	6251	9867											
MUC17	140453	broad.mit.edu	37	7	100675272	100675272	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:100675272C>A	ENST00000306151.4	+	3	639	c.575C>A	c.(574-576)aCt>aAt	p.T192N		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	192	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					ACCACTTCTACTCAGGCAAGT	0.453													7	240					0.248553	0.249876	1	1	0	A	100675272	C	A	100675272	3	1	81	1	0	0	0	0	1	0	0	0	10022	565	20	4	585	4	MUC17	7	100675272	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	296	100675272	58463391	6252	9868											
MUC17	140453	broad.mit.edu	37	7	100675687	100675687	+	Silent	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:100675687T>G	ENST00000306151.4	+	3	1054	c.990T>G	c.(988-990)acT>acG	p.T330T		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	330	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CAACTTATACTGAAGGAAGCA	0.493													13	208					0	0	1	0	0	G	100675687	T	G	100675687	2	3	81	1	0	0	0	0	0	0	0	1	10022	1567	55	5		5	MUC17	7	100675687	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	415	100675687	58462976	6253	9869											
MUC17	140453	broad.mit.edu	37	7	100676655	100676655	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:100676655C>A	ENST00000306151.4	+	3	2022	c.1958C>A	c.(1957-1959)cCt>cAt	p.P653H		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	653	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TCAACAACTCCTGTTGACTCC	0.478													29	377					3.73148e-12	4.65439e-12	1	1	0	A	100676655	C	A	100676655	3	1	81	1	0	0	0	0	1	0	0	0	10022	681	24	4	1968	4	MUC17	7	100676655	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	968	100676655	58462008	6254	9870											
MUC17	140453	broad.mit.edu	37	7	100677590	100677590	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:100677590C>T	ENST00000306151.4	+	3	2957	c.2893C>T	c.(2893-2895)Cct>Tct	p.P965S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	965	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CACTTCATCTCCTACAACTGC	0.522													211	221					0	0	1	0	0	T	100677590	C	T	100677590	3	4	81	1	0	0	0	0	1	0	0	0	10022	855	30	2	2903	2	MUC17	7	100677590	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	935	100677590	58461073	6255	9871											
MUC17	140453	broad.mit.edu	37	7	100679256	100679256	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:100679256C>A	ENST00000306151.4	+	3	4623	c.4559C>A	c.(4558-4560)cCt>cAt	p.P1520H		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1520	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					ACAAGTATACCTGTCAGCACC	0.478													54	186					5.99346e-17	7.71207e-17	1	1	0	A	100679256	C	A	100679256	3	1	81	1	0	0	0	0	1	0	0	0	10022	681	24	4	4569	4	MUC17	7	100679256	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1666	100679256	58459407	6256	9872											
MUC17	140453	broad.mit.edu	37	7	100680859	100680859	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:100680859G>A	ENST00000306151.4	+	3	6226	c.6162G>A	c.(6160-6162)acG>acA	p.T2054T		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2054	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TCAGCACTACGCTTGTGGTCA	0.493													94	59					0	0	1	0	0	A	100680859	G	A	100680859	2	1	81	1	0	0	0	0	0	0	0	1	10022	1074	38	1		1	MUC17	7	100680859	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1603	100680859	58457804	6257	9873											
MUC17	140453	broad.mit.edu	37	7	100681191	100681191	+	Missense_Mutation	SNP	G	G	A	rs148535690		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:100681191G>A	ENST00000306151.4	+	3	6558	c.6494G>A	c.(6493-6495)aGt>aAt	p.S2165N		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2165	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CCTTTAACAAGTATGCCTGTC	0.468													20	315					0	0	1	0	0	A	100681191	G	A	100681191	3	1	81	1	0	0	0	0	1	0	0	0	10022	1029	36	2	6504	2	MUC17	7	100681191	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	332	100681191	58457472	6258	9874											
MUC17	140453	broad.mit.edu	37	7	100682290	100682290	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:100682290G>T	ENST00000306151.4	+	3	7657	c.7593G>T	c.(7591-7593)gaG>gaT	p.E2531D		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2531	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CCAGTCCTGAGGCTAGCACCC	0.488													22	358					2.89027e-11	3.57291e-11	1	1	0	T	100682290	G	T	100682290	3	4	81	1	0	0	0	0	1	0	0	0	10022	991	35	4	7603	4	MUC17	7	100682290	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1099	100682290	58456373	6259	9875											
MUC17	140453	broad.mit.edu	37	7	100683263	100683263	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:100683263G>T	ENST00000306151.4	+	3	8630	c.8566G>T	c.(8566-8568)Ggt>Tgt	p.G2856C		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2856	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					AACTGCTGAAGGTATCGTCGT	0.512													217	152					6.72445e-110	9.06937e-110	1	1	0	T	100683263	G	T	100683263	3	4	81	1	0	0	0	0	1	0	0	0	10022	1000	35	4	8576	4	MUC17	7	100683263	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	973	100683263	58455400	6260	9876											
MUC17	140453	broad.mit.edu	37	7	100684837	100684837	+	Silent	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:100684837T>A	ENST00000306151.4	+	3	10204	c.10140T>A	c.(10138-10140)tcT>tcA	p.S3380S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3380	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CCAGTTTATCTCCTACAACTG	0.522													26	371					0	0	1	0	0	A	100684837	T	A	100684837	2	1	81	1	0	0	0	0	0	0	0	1	10022	1538	54	5		5	MUC17	7	100684837	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	1574	100684837	58453826	6261	9877											
MUC17	140453	broad.mit.edu	37	7	100684913	100684913	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:100684913G>A	ENST00000306151.4	+	3	10280	c.10216G>A	c.(10216-10218)Gtc>Atc	p.V3406I		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3406	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					AAGTATGCCTGTCAGCACCAC	0.493													38	370					0	0	1	0	0	A	100684913	G	A	100684913	3	1	81	1	0	0	0	0	1	0	0	0	10022	1377	48	2	10226	2	MUC17	7	100684913	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	76	100684913	58453750	6262	9878											
MUC17	140453	broad.mit.edu	37	7	100685598	100685598	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:100685598G>T	ENST00000306151.4	+	3	10965	c.10901G>T	c.(10900-10902)aGc>aTc	p.S3634I		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3634	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					AGTGAAGTAAGCACTCCATTA	0.488													6	119					0.00116845	0.00124301	1	1	0	T	100685598	G	T	100685598	3	4	81	1	0	0	0	0	1	0	0	0	10022	971	34	4	10911	4	MUC17	7	100685598	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	685	100685598	58453065	6263	9879											
MUC17	140453	broad.mit.edu	37	7	100686241	100686241	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:100686241C>A	ENST00000306151.4	+	3	11608	c.11544C>A	c.(11542-11544)acC>acA	p.T3848T		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3848						extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CTTTGCTCACCTCTACCAAAG	0.458													48	38					8.00217e-19	1.04002e-18	1	1	0	A	100686241	C	A	100686241	2	1	81	1	0	0	0	0	0	0	0	1	10022	668	24	4		4	MUC17	7	100686241	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	643	100686241	58452422	6264	9880											
MUC17	140453	broad.mit.edu	37	7	100693793	100693793	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:100693793G>A	ENST00000306151.4	+	7	12815	c.12751G>A	c.(12751-12753)Gtc>Atc	p.V4251I		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	4251	SEA.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GGAGCATGACGTCCTCCTAAG	0.478													42	37					0	0	1	0	0	A	100693793	G	A	100693793	3	1	81	1	0	0	0	0	1	0	0	0	10022	1145	40	1	12777	1	MUC17	7	100693793	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	7552	100693793	58444870	6265	9881											
SERPINE1	5054	broad.mit.edu	37	7	100779016	100779016	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:100779016G>A	ENST00000223095.4	+	7	1178	c.1021G>A	c.(1021-1023)Gcg>Acg	p.A341T	SERPINE1_ENST00000445463.2_Missense_Mutation_p.A326T	NM_000602.4	NP_000593.1	P05121	PAI1_HUMAN	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	341					angiogenesis|cellular response to chemical stimulus|cellular response to lipopolysaccharide|chronological cell aging|defense response to Gram-negative bacterium|fibrinolysis|negative regulation of apoptosis|negative regulation of cell adhesion mediated by integrin|negative regulation of fibrinolysis|negative regulation of plasminogen activation|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell-matrix adhesion|negative regulation of vascular wound healing|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of interleukin-8 production|positive regulation of leukotriene production involved in inflammatory response|positive regulation of monocyte chemotaxis|positive regulation of receptor-mediated endocytosis|regulation of receptor activity	extracellular matrix|extracellular space|plasma membrane|platelet alpha granule lumen	protease binding|serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)	20	Lung NSC(181;0.136)|all_lung(186;0.182)				Atorvastatin(DB01076)|Dimethyl sulfoxide(DB01093)|Drotrecogin alfa(DB00055)|Simvastatin(DB00641)|Tenecteplase(DB00031)|Troglitazone(DB00197)|Urokinase(DB00013)	TCTCCACGTCGCGCAGGCGCT	0.582													7	82					0	0	1	0	0	A	100779016	G	A	100779016	3	1	81	1	0	0	0	0	1	0	0	0	14165	1087	38	1	1043	1	SERPINE1	7	100779016	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	85223	100779016	58359647	6266	9882											
MOGAT3	346606	broad.mit.edu	37	7	100839254	100839254	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:100839254G>A	ENST00000379423.3	-	6	856	c.796C>T	c.(796-798)Cgc>Tgc	p.R266C	MOGAT3_ENST00000440203.2_3'UTR|MOGAT3_ENST00000223114.4_Silent_p.P333P			Q86VF5	MOGT3_HUMAN	monoacylglycerol O-acyltransferase 3	0					glycerol metabolic process|lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity|diacylglycerol O-acyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(3)	22	Lung NSC(181;0.168)|all_lung(186;0.215)					AGGTGGAAGCGGGGACCCCAC	0.632													22	83					0	0	1	0	0	A	100839254	G	A	100839254	3	1	81	1	0	0	0	0	1	0	0	0	9745	1103	39	1	30	1	MOGAT3	7	100839254	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	60238	100839254	58299409	6267	9883											
MOGAT3	346606	broad.mit.edu	37	7	100839654	100839654	+	Missense_Mutation	SNP	C	C	T	rs151326500		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:100839654C>T	ENST00000223114.4	-	6	851	c.685G>A	c.(685-687)Gtg>Atg	p.V229M	MOGAT3_ENST00000440203.2_Missense_Mutation_p.V229M|MOGAT3_ENST00000379423.3_Intron	NM_178176.2	NP_835470.1	Q86VF5	MOGT3_HUMAN	monoacylglycerol O-acyltransferase 3	229					glycerol metabolic process|lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity|diacylglycerol O-acyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(3)	22	Lung NSC(181;0.168)|all_lung(186;0.215)					AAGGAGTACACGGGCACCAGG	0.587													17	11					0	0	1	0	0	T	100839654	C	T	100839654	3	4	81	1	0	0	0	0	1	0	0	0	9745	536	19	1	348	1	MOGAT3	7	100839654	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	400	100839654	58299009	6268	9884											
MOGAT3	346606	broad.mit.edu	37	7	100843729	100843729	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:100843729G>T	ENST00000223114.4	-	2	343	c.177C>A	c.(175-177)taC>taA	p.Y59*	MOGAT3_ENST00000440203.2_Nonsense_Mutation_p.Y59*|MOGAT3_ENST00000379423.3_Nonsense_Mutation_p.Y59*	NM_178176.2	NP_835470.1	Q86VF5	MOGT3_HUMAN	monoacylglycerol O-acyltransferase 3	59					glycerol metabolic process|lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity|diacylglycerol O-acyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(3)	22	Lung NSC(181;0.168)|all_lung(186;0.215)					GCCACACCAAGTAAAAAACAG	0.557													6	11					3.59834e-05	3.99423e-05	1	1	0	T	100843729	G	T	100843729	4	4	81	1	0	0	0	0	0	1	0	0	9745	1024	36	4	872	4	MOGAT3	7	100843729	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	4075	100843729	58294934	6269	9885											
PLOD3	8985	broad.mit.edu	37	7	100859762	100859762	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:100859762C>A	ENST00000223127.3	-	3	665	c.267G>T	c.(265-267)aaG>aaT	p.K89N		NM_001084.4	NP_001075.1	O60568	PLOD3_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3	89					protein modification process	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	31	Lung NSC(181;0.168)|all_lung(186;0.215)				Succinic acid(DB00139)|Vitamin C(DB00126)	ACCACCGGACCTTCTGTCCTC	0.577													14	38					6.31663e-08	7.44777e-08	1	1	0	A	100859762	C	A	100859762	3	1	81	1	0	0	0	0	1	0	0	0	12151	680	24	4	2017	4	PLOD3	7	100859762	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	16033	100859762	58278901	6270	9886											
RABL5	64792	broad.mit.edu	37	7	100959652	100959652	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:100959652G>A	ENST00000517481.1	-	5	517	c.147C>T	c.(145-147)ggC>ggT	p.G49G	RABL5_ENST00000495166.1_5'UTR|RABL5_ENST00000437644.2_Silent_p.G96G|RABL5_ENST00000315322.4_Silent_p.G126G|RABL5_ENST00000498704.2_Silent_p.G49G			Q9H7X7	RABL5_HUMAN	RAB, member RAS oncogene family-like 5	126							GTP binding			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	7	Lung NSC(181;0.215)					CATCTCCAGAGCCTGGTTTGT	0.448													65	50					0	0	1	0	0	A	100959652	G	A	100959652	2	1	81	1	0	0	0	0	0	0	0	1	13025	958	34	2		2	RABL5	7	100959652	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	99890	100959652	58179011	6271	9887											
CUX1	1523	broad.mit.edu	37	7	101838849	101838849	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:101838849C>T	ENST00000360264.3	+	14	1241	c.1221C>T	c.(1219-1221)aaC>aaT	p.N407N	CUX1_ENST00000549414.2_Silent_p.N396N|CUX1_ENST00000292535.7_Silent_p.N396N|CUX1_ENST00000546411.2_Silent_p.N396N|CUX1_ENST00000550008.2_Silent_p.N396N|CUX1_ENST00000560541.1_3'UTR|CUX1_ENST00000393824.3_Silent_p.N368N|CUX1_ENST00000547394.2_Silent_p.N391N|CUX1_ENST00000556210.1_Silent_p.N396N|CUX1_ENST00000292538.4_Silent_p.N407N|CUX1_ENST00000425244.2_Silent_p.N361N|CUX1_ENST00000437600.4_Silent_p.N405N	NM_001202543.1	NP_001189472.1	P39880	CUX1_HUMAN	cut-like homeobox 1	396					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						AGTCCGAGAACGCCGCGCTGC	0.682													8	16					0	0	1	0	0	T	101838849	C	T	101838849	2	4	81	1	0	0	0	0	0	0	0	1	4087	535	19	1		1	CUX1	7	101838849	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	879197	101838849	57299814	6272	9888											
CUX1	1523	broad.mit.edu	37	7	101842124	101842124	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:101842124C>T	ENST00000360264.3	+	16	1990	c.1970C>T	c.(1969-1971)cCg>cTg	p.P657L	CUX1_ENST00000549414.2_Intron|CUX1_ENST00000292535.7_Missense_Mutation_p.P646L|CUX1_ENST00000546411.2_Missense_Mutation_p.P544L|CUX1_ENST00000550008.2_Intron|CUX1_ENST00000560541.1_Intron|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000547394.2_Intron|CUX1_ENST00000556210.1_Intron|CUX1_ENST00000292538.4_Intron|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000437600.4_Intron	NM_001202543.1	NP_001189472.1	P39880	CUX1_HUMAN	cut-like homeobox 1	646					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						CAGGAAGTACCGAAACGAAGA	0.458													4	84					0	0	1	0	0	T	101842124	C	T	101842124	3	4	81	1	0	0	0	0	1	0	0	0	4087	652	23	1	2066	1	CUX1	7	101842124	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3275	101842124	57296539	6273	9889											
CUX1	1523	broad.mit.edu	37	7	101845057	101845057	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:101845057C>T	ENST00000360264.3	+	18	2533	c.2513C>T	c.(2512-2514)gCg>gTg	p.A838V	CUX1_ENST00000549414.2_Missense_Mutation_p.A805V|CUX1_ENST00000292535.7_Missense_Mutation_p.A827V|CUX1_ENST00000546411.2_Missense_Mutation_p.A725V|CUX1_ENST00000550008.2_Missense_Mutation_p.A771V|CUX1_ENST00000560541.1_Intron|CUX1_ENST00000547394.2_Intron|CUX1_ENST00000556210.1_Missense_Mutation_p.A669V|CUX1_ENST00000292538.4_Intron|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000437600.4_Intron|CUX1_ENST00000393824.3_Intron	NM_001202543.1	NP_001189472.1	P39880	CUX1_HUMAN	cut-like homeobox 1	827					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						TGGTGGAGCGCGGTGCAGCCG	0.662													18	18					0	0	1	0	0	T	101845057	C	T	101845057	3	4	81	1	0	0	0	0	1	0	0	0	4087	768	27	1	2617	1	CUX1	7	101845057	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2933	101845057	57293606	6274	9890											
CUX1	1523	broad.mit.edu	37	7	101877506	101877506	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:101877506G>A	ENST00000360264.3	+	22	3661	c.3641G>A	c.(3640-3642)cGg>cAg	p.R1214Q	CUX1_ENST00000549414.2_Missense_Mutation_p.R1181Q|CUX1_ENST00000292535.7_Missense_Mutation_p.R1203Q|CUX1_ENST00000546411.2_Missense_Mutation_p.R1101Q|CUX1_ENST00000550008.2_Missense_Mutation_p.R1147Q|CUX1_ENST00000560541.1_Intron|CUX1_ENST00000547394.2_Intron|CUX1_ENST00000556210.1_Missense_Mutation_p.R1045Q|CUX1_ENST00000292538.4_Intron|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000437600.4_Intron|CUX1_ENST00000393824.3_Intron	NM_001202543.1	NP_001189472.1	P39880	CUX1_HUMAN	cut-like homeobox 1	1203					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						GACATGAAACGGATGGAGAAG	0.547													11	30					0	0	1	0	0	A	101877506	G	A	101877506	3	1	81	1	0	0	0	0	1	0	0	0	4087	1116	39	1	3761	1	CUX1	7	101877506	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	32449	101877506	57261157	6275	9891											
CUX1	1523	broad.mit.edu	37	7	101891755	101891755	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:101891755C>T	ENST00000360264.3	+	24	4004	c.3984C>T	c.(3982-3984)ggC>ggT	p.G1328G	CUX1_ENST00000549414.2_Silent_p.G1295G|CUX1_ENST00000292535.7_Silent_p.G1317G|CUX1_ENST00000546411.2_Silent_p.G1215G|CUX1_ENST00000550008.2_Silent_p.G1261G|CUX1_ENST00000560541.1_Intron|CUX1_ENST00000547394.2_Intron|CUX1_ENST00000556210.1_Silent_p.G1159G|CUX1_ENST00000292538.4_Intron|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000437600.4_Intron|CUX1_ENST00000393824.3_Intron	NM_001202543.1	NP_001189472.1	P39880	CUX1_HUMAN	cut-like homeobox 1	1317					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						GCCAGGCGGGCGCCAGCGACT	0.711													5	7					0	0	1	0	0	T	101891755	C	T	101891755	2	4	81	1	0	0	0	0	0	0	0	1	4087	755	27	1		1	CUX1	7	101891755	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	14249	101891755	57246908	6276	9892											
ORAI2	80228	broad.mit.edu	37	7	102087139	102087139	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:102087139C>T	ENST00000356387.2	+	4	640	c.405C>T	c.(403-405)agC>agT	p.S135S	ORAI2_ENST00000473939.1_Silent_p.S135S|ORAI2_ENST00000478730.2_Silent_p.S135S|ORAI2_ENST00000403646.3_Silent_p.S135S|ORAI2_ENST00000488996.1_3'UTR	NM_001126340.1|NM_001271818.1|NM_001271819.1|NM_032831.3	NP_001119812.1|NP_001258747.1|NP_001258748.1|NP_116220.1	Q96SN7	ORAI2_HUMAN	ORAI calcium release-activated calcium modulator 2	135						integral to membrane	protein binding			autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|lung(4)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	15						ACTCCATCAGCGAGTCCCCGC	0.627													92	52					0	0	1	0	0	T	102087139	C	T	102087139	2	4	81	1	0	0	0	0	0	0	0	1	11305	767	27	1		1	ORAI2	7	102087139	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	195384	102087139	57051524	6277	9893											
ALKBH4	54784	broad.mit.edu	37	7	102098304	102098304	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:102098304C>T	ENST00000292566.3	-	3	485	c.446G>A	c.(445-447)cGg>cAg	p.R149Q		NM_017621.3	NP_060091.1	Q9NXW9	ALKB4_HUMAN	alkB, alkylation repair homolog 4 (E. coli)	149						cytoplasm|nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			kidney(1)|lung(5)|skin(2)	8						CTCGACGGGCCGGAAGCCCTC	0.692													25	19					0	0	1	0	0	T	102098304	C	T	102098304	3	4	81	1	0	0	0	0	1	0	0	0	525	652	23	1	466	1	ALKBH4	7	102098304	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	11165	102098304	57040359	6278	9894											
ALKBH4	54784	broad.mit.edu	37	7	102100177	102100177	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:102100177G>A	ENST00000292566.3	-	2	234	c.195C>T	c.(193-195)ggC>ggT	p.G65G		NM_017621.3	NP_060091.1	Q9NXW9	ALKB4_HUMAN	alkB, alkylation repair homolog 4 (E. coli)	65						cytoplasm|nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			kidney(1)|lung(5)|skin(2)	8						GGAAGGCCCAGCCCTCAAAGT	0.577													6	117					0	0	1	0	0	A	102100177	G	A	102100177	2	1	81	1	0	0	0	0	0	0	0	1	525	958	34	2		2	ALKBH4	7	102100177	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1873	102100177	57038486	6279	9895											
LRWD1	222229	broad.mit.edu	37	7	102106493	102106493	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:102106493C>A	ENST00000292616.5	+	2	462	c.310C>A	c.(310-312)Ctg>Atg	p.L104M		NM_152892.1	NP_690852.1	Q9UFC0	LRWD1_HUMAN	leucine-rich repeats and WD repeat domain containing 1	104					chromatin modification|DNA-dependent DNA replication initiation|establishment of protein localization to chromatin|G1 phase of mitotic cell cycle	centromeric heterochromatin|nuclear origin of replication recognition complex|telomeric heterochromatin	chromatin binding|methyl-CpG binding|methylated histone residue binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|skin(1)|stomach(2)	20						CAACCCCTTCCTGACGGTAAG	0.617													4	45					0.150653	0.152522	1	1	0	A	102106493	C	A	102106493	3	1	81	1	0	0	0	0	1	0	0	0	9092	680	24	4	316	4	LRWD1	7	102106493	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	6316	102106493	57032170	6280	9896											
LRWD1	222229	broad.mit.edu	37	7	102110021	102110021	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:102110021C>T	ENST00000292616.5	+	10	1381	c.1229C>T	c.(1228-1230)aCg>aTg	p.T410M		NM_152892.1	NP_690852.1	Q9UFC0	LRWD1_HUMAN	leucine-rich repeats and WD repeat domain containing 1	410					chromatin modification|DNA-dependent DNA replication initiation|establishment of protein localization to chromatin|G1 phase of mitotic cell cycle	centromeric heterochromatin|nuclear origin of replication recognition complex|telomeric heterochromatin	chromatin binding|methyl-CpG binding|methylated histone residue binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|skin(1)|stomach(2)	20						CCCTCTTCAGCGGCCTCCTAT	0.647													26	67					0	0	1	0	0	T	102110021	C	T	102110021	5	4	81	1	0	0	0	0	0	0	1	0	9092	782	27	1	1267	1	LRWD1	7	102110021	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3528	102110021	57028642	6281	9897											
LRRC17	10234	broad.mit.edu	37	7	102574889	102574889	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:102574889A>T	ENST00000249377.4	+	2	810	c.529A>T	c.(529-531)Atg>Ttg	p.M177L	FBXL13_ENST00000313221.4_Intron|FBXL13_ENST00000455112.2_Intron|FBXL13_ENST00000456695.1_Intron|FBXL13_ENST00000436908.1_Intron|FBXL13_ENST00000379308.3_Intron|FBXL13_ENST00000379305.3_Intron|FBXL13_ENST00000379306.3_Intron|FBXL13_ENST00000393772.2_Intron|LRRC17_ENST00000339431.4_Missense_Mutation_p.M177L	NM_005824.2	NP_005815.2	Q8N6Y2	LRC17_HUMAN	leucine rich repeat containing 17	177	LRRCT 1.				bone marrow development|negative regulation of osteoclast differentiation|ossification	extracellular space				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	17						GCTTATTTCAATGTTGCAGAT	0.428													10	117					0	0	1	0	0	T	102574889	A	T	102574889	3	4	81	1	0	0	0	0	1	0	0	0	9018	101	4	4	531	4	LRRC17	7	102574889	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	464868	102574889	56563774	6282	9898											
NAPEPLD	222236	broad.mit.edu	37	7	102760494	102760494	+	Silent	SNP	C	C	T	rs144069186		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:102760494C>T	ENST00000417955.1	-	3	625	c.471G>A	c.(469-471)tcG>tcA	p.S157S	NAPEPLD_ENST00000455523.2_Silent_p.S230S|NAPEPLD_ENST00000465647.1_Silent_p.S157S|NAPEPLD_ENST00000427257.1_Silent_p.S157S|NAPEPLD_ENST00000341533.4_Silent_p.S157S			Q6IQ20	NAPEP_HUMAN	N-acyl phosphatidylethanolamine phospholipase D	157					phospholipid catabolic process	membrane	metal ion binding			endometrium(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						CCATGTACTGCGATGGTGAAG	0.493													44	122					0	0	1	0	0	T	102760494	C	T	102760494	2	4	81	1	0	0	0	0	0	0	0	1	10211	755	27	1		1	NAPEPLD	7	102760494	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	185605	102760494	56378169	6283	9899											
PMPCB	9512	broad.mit.edu	37	7	102944426	102944426	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:102944426G>A	ENST00000249269.4	+	5	633	c.595G>A	c.(595-597)Gcc>Acc	p.A199T	PMPCB_ENST00000428154.1_Missense_Mutation_p.A199T|PMPCB_ENST00000420236.2_Missense_Mutation_p.A94T	NM_004279.2	NP_004270.2	O75439	MPPB_HUMAN	peptidase (mitochondrial processing) beta	199					proteolysis	mitochondrial matrix	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(9)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TTATCTTCATGCCACAGCTTA	0.373													6	67					0	0	1	0	0	A	102944426	G	A	102944426	3	1	81	1	0	0	0	0	1	0	0	0	12189	1319	46	2	613	2	PMPCB	7	102944426	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	183932	102944426	56194237	6284	9900											
DNAJC2	27000	broad.mit.edu	37	7	102956235	102956235	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:102956235C>T	ENST00000379263.3	-	15	1862	c.1612G>A	c.(1612-1614)Gca>Aca	p.A538T	PMPCB_ENST00000420236.2_Intron|DNAJC2_ENST00000249270.7_Missense_Mutation_p.A485T	NM_014377.1	NP_055192.1	Q99543	DNJC2_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 2	538					'de novo' cotranslational protein folding|chromatin modification|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nuclear membrane	chromatin binding|DNA binding|histone binding|Hsp70 protein binding|ubiquitin binding			endometrium(1)|kidney(9)|large_intestine(6)|lung(4)|ovary(1)	21						GAAGGCGTTGCGTTGTCTGCT	0.373													47	50					0	0	1	0	0	T	102956235	C	T	102956235	3	4	81	1	0	0	0	0	1	0	0	0	4666	768	27	1	265	1	DNAJC2	7	102956235	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	11809	102956235	56182428	6285	9901											
PSMC2	5701	broad.mit.edu	37	7	103003137	103003137	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:103003137G>A	ENST00000435765.1	+	7	838	c.427G>A	c.(427-429)Gat>Aat	p.D143N	SLC26A5_ENST00000339444.6_Intron|SLC26A5_ENST00000393735.2_Intron|SLC26A5_ENST00000356767.4_Intron|PSMC2_ENST00000292644.3_Missense_Mutation_p.D143N|PSMC2_ENST00000544811.1_Missense_Mutation_p.D6N	NM_002803.3	NP_002794.1	P35998	PRS7_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 2	143					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	mitochondrion|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding			breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	21						CCTTAGCGTGGATAGAAATAA	0.343													36	32					0	0	1	0	0	A	103003137	G	A	103003137	3	1	81	1	0	0	0	0	1	0	0	0	12735	1174	41	2	449	2	PSMC2	7	103003137	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	46902	103003137	56135526	6286	9902											
PSMC2	5701	broad.mit.edu	37	7	103008238	103008238	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:103008238C>T	ENST00000435765.1	+	12	1537	c.1126C>T	c.(1126-1128)Ctg>Ttg	p.L376L	SLC26A5_ENST00000339444.6_Intron|SLC26A5_ENST00000393735.2_Intron|SLC26A5_ENST00000356767.4_Intron|PSMC2_ENST00000292644.3_Silent_p.L376L|PSMC2_ENST00000544811.1_Silent_p.L239L	NM_002803.3	NP_002794.1	P35998	PRS7_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 2	376					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	mitochondrion|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding			breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	21						GTTAGCACGACTGTGTCCAAA	0.373													7	126					0	0	1	0	0	T	103008238	C	T	103008238	2	4	81	1	0	0	0	0	0	0	0	1	12735	564	20	2		2	PSMC2	7	103008238	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	5101	103008238	56130425	6287	9903											
RELN	5649	broad.mit.edu	37	7	103132400	103132400	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:103132400C>T	ENST00000428762.1	-	58	9602	c.9443G>A	c.(9442-9444)aGa>aAa	p.R3148K	CTB-107G13.1_ENST00000422488.1_RNA|RELN_ENST00000343529.5_Splice_Site_p.R3148K|RELN_ENST00000424685.2_Splice_Site_p.R3148K	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	3148					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		TTTCACAAACCTTGCATCCTT	0.388													7	17					0	0	1	0	0	T	103132400	C	T	103132400	5	4	81	1	0	0	0	0	0	0	1	0	13272	695	24	2	971	2	RELN	7	103132400	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	124162	103132400	56006263	6288	9904											
RELN	5649	broad.mit.edu	37	7	103138684	103138684	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:103138684G>A	ENST00000428762.1	-	54	8842	c.8683C>T	c.(8683-8685)Cgc>Tgc	p.R2895C	CTB-107G13.1_ENST00000422488.1_RNA|RELN_ENST00000343529.5_Missense_Mutation_p.R2895C|RELN_ENST00000424685.2_Missense_Mutation_p.R2895C	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	2895					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CTGTCAAAGCGTTCCTTCAGG	0.378													9	77					0	0	1	0	0	A	103138684	G	A	103138684	3	1	81	1	0	0	0	0	1	0	0	0	13272	1145	40	1	1747	1	RELN	7	103138684	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	6284	103138684	55999979	6289	9905											
RELN	5649	broad.mit.edu	37	7	103159852	103159852	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:103159852C>T	ENST00000424685.2	-	49	7939	c.7780G>A	c.(7780-7782)Gtt>Att	p.V2594I	RELN_ENST00000343529.5_Missense_Mutation_p.V2594I|RELN_ENST00000428762.1_Missense_Mutation_p.V2594I			P78509	RELN_HUMAN	reelin	2594					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		TCCAAGAGAACACCTTGGTTA	0.408													21	64					0	0	1	0	0	T	103159852	C	T	103159852	3	4	81	1	0	0	0	0	1	0	0	0	13272	478	17	2	2670	2	RELN	7	103159852	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	21168	103159852	55978811	6290	9906											
RELN	5649	broad.mit.edu	37	7	103202385	103202385	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:103202385C>A	ENST00000424685.2	-	35	5385	c.5226G>T	c.(5224-5226)cgG>cgT	p.R1742R	RELN_ENST00000343529.5_Silent_p.R1742R|RELN_ENST00000428762.1_Silent_p.R1742R			P78509	RELN_HUMAN	reelin	1742					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		TCCATCTGAACCGGGTCCTGG	0.453													7	32					0.248553	0.249876	1	1	0	A	103202385	C	A	103202385	2	1	81	1	0	0	0	0	0	0	0	1	13272	494	18	5		5	RELN	7	103202385	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	42533	103202385	55936278	6291	9907											
RELN	5649	broad.mit.edu	37	7	103234855	103234855	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:103234855G>T	ENST00000424685.2	-	26	3783	c.3624C>A	c.(3622-3624)gaC>gaA	p.D1208E	RELN_ENST00000343529.5_Missense_Mutation_p.D1208E|RELN_ENST00000428762.1_Missense_Mutation_p.D1208E			P78509	RELN_HUMAN	reelin	1208					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		ACTGGTCATAGTCCTCCCCTG	0.493													170	98					1.0846e-72	1.46216e-72	1	1	0	T	103234855	G	T	103234855	3	4	81	1	0	0	0	0	1	0	0	0	13272	1020	36	4	6918	4	RELN	7	103234855	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	32470	103234855	55903808	6292	9908											
RELN	5649	broad.mit.edu	37	7	103293192	103293192	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:103293192A>G	ENST00000424685.2	-	14	1728	c.1569T>C	c.(1567-1569)gtT>gtC	p.V523V	RELN_ENST00000343529.5_Silent_p.V523V|RELN_ENST00000428762.1_Silent_p.V523V			P78509	RELN_HUMAN	reelin	523					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		TGACCACAGAAACCAAAGACG	0.413													8	119					0	0	1	0	0	G	103293192	A	G	103293192	2	3	81	1	0	0	0	0	0	0	0	1	13272	1	1	3		3	RELN	7	103293192	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	58337	103293192	55845471	6293	9909											
PUS7	54517	broad.mit.edu	37	7	105148912	105148912	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:105148912C>A	ENST00000356362.2	-	2	262	c.48G>T	c.(46-48)ctG>ctT	p.L16L	PUS7_ENST00000469408.1_Silent_p.L16L	NM_019042.3	NP_061915.2	Q96PZ0	PUS7_HUMAN	pseudouridylate synthase 7 homolog (S. cerevisiae)	16					pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|pancreas(1)|skin(1)	23						CTTCGACAACCAGTGCCCCAC	0.433													8	121					1.12685e-05	1.27052e-05	1	1	0	A	105148912	C	A	105148912	2	1	81	1	0	0	0	0	0	0	0	1	12885	581	21	5		5	PUS7	7	105148912	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1855720	105148912	53989751	6294	9910											
RINT1	60561	broad.mit.edu	37	7	105177032	105177032	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:105177032C>T	ENST00000257700.2	+	3	340	c.109C>T	c.(109-111)Ctt>Ttt	p.L37F		NM_021930.4	NP_068749.3	Q6NUQ1	RINT1_HUMAN	RAD50 interactor 1	37					cell cycle|G2/M transition DNA damage checkpoint|protein transport|vesicle-mediated transport	endoplasmic reticulum membrane	protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						TGTTACAGTTCTTATTGGAAG	0.323													57	127					0	0	1	0	0	T	105177032	C	T	105177032	3	4	81	1	0	0	0	0	1	0	0	0	13428	913	32	2	119	2	RINT1	7	105177032	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	28120	105177032	53961631	6295	9911											
CDHR3	222256	broad.mit.edu	37	7	105662783	105662783	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:105662783C>T	ENST00000542731.1	+	14	2073	c.1965C>T	c.(1963-1965)gaC>gaT	p.D655D	CDHR3_ENST00000470188.1_Intron|CDHR3_ENST00000317716.9_Silent_p.D655D|CDHR3_ENST00000478080.1_Silent_p.D567D|CDHR3_ENST00000343407.5_Intron			Q6ZTQ4	CDHR3_HUMAN	cadherin-related family member 3	655	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)|cervix(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)	23						TAACTGATGACAACTTGATGT	0.463													101	65					0	0	1	0	0	T	105662783	C	T	105662783	2	4	81	1	0	0	0	0	0	0	0	1	3142	477	17	2		2	CDHR3	7	105662783	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	485751	105662783	53475880	6296	9912											
CDHR3	222256	broad.mit.edu	37	7	105664969	105664969	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:105664969G>T	ENST00000542731.1	+	15	2327	c.2219G>T	c.(2218-2220)aGa>aTa	p.R740I	CDHR3_ENST00000470188.1_3'UTR|CDHR3_ENST00000317716.9_Missense_Mutation_p.R740I|CDHR3_ENST00000478080.1_Missense_Mutation_p.R652I|CDHR3_ENST00000343407.5_Missense_Mutation_p.Q242H			Q6ZTQ4	CDHR3_HUMAN	cadherin-related family member 3	740					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)|cervix(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)	23						GCCATCCACAGACACTGCCCC	0.547													12	40					0.00136819	0.00145431	1	1	0	T	105664969	G	T	105664969	3	4	81	1	0	0	0	0	1	0	0	0	3142	942	33	4	2277	4	CDHR3	7	105664969	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2186	105664969	53473694	6297	9913											
NAMPT	10135	broad.mit.edu	37	7	105893480	105893480	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:105893480G>T	ENST00000222553.3	-	10	1655	c.1348C>A	c.(1348-1350)Ctt>Att	p.L450I		NM_005746.2	NP_005737.1	P43490	NAMPT_HUMAN	nicotinamide phosphoribosyltransferase	450					cell-cell signaling|NAD biosynthetic process|nicotinamide metabolic process|positive regulation of cell proliferation|positive regulation of nitric-oxide synthase biosynthetic process|signal transduction|water-soluble vitamin metabolic process	cytosol	cytokine activity|nicotinamide phosphoribosyltransferase activity|nicotinate phosphoribosyltransferase activity|nicotinate-nucleotide diphosphorylase (carboxylating) activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	14						TATTCCTCAAGGTCTCCTTTT	0.398													26	103					8.24728e-16	1.05515e-15	1	1	0	T	105893480	G	T	105893480	3	4	81	1	0	0	0	0	1	0	0	0	10197	1000	35	4	135	4	NAMPT	7	105893480	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	228511	105893480	53245183	6298	9914											
NAMPT	10135	broad.mit.edu	37	7	105909631	105909631	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:105909631T>A	ENST00000222553.3	-	5	882	c.575A>T	c.(574-576)gAt>gTt	p.D192V	NAMPT_ENST00000354289.4_Missense_Mutation_p.D192V|NAMPT_ENST00000484527.1_5'UTR	NM_005746.2	NP_005737.1	P43490	NAMPT_HUMAN	nicotinamide phosphoribosyltransferase	192					cell-cell signaling|NAD biosynthetic process|nicotinamide metabolic process|positive regulation of cell proliferation|positive regulation of nitric-oxide synthase biosynthetic process|signal transduction|water-soluble vitamin metabolic process	cytosol	cytokine activity|nicotinamide phosphoribosyltransferase activity|nicotinate phosphoribosyltransferase activity|nicotinate-nucleotide diphosphorylase (carboxylating) activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	14						GTAGCCAAAATCATGTAACTT	0.363													47	24					0	0	1	0	0	A	105909631	T	A	105909631	3	1	81	1	0	0	0	0	1	0	0	0	10197	1435	50	4	928	4	NAMPT	7	105909631	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	16151	105909631	53229032	6299	9915											
NAMPT	10135	broad.mit.edu	37	7	105925305	105925305	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:105925305A>G	ENST00000222553.3	-	1	333	c.26T>C	c.(25-27)tTc>tCc	p.F9S	NAMPT_ENST00000354289.4_Missense_Mutation_p.F9S	NM_005746.2	NP_005737.1	P43490	NAMPT_HUMAN	nicotinamide phosphoribosyltransferase	9					cell-cell signaling|NAD biosynthetic process|nicotinamide metabolic process|positive regulation of cell proliferation|positive regulation of nitric-oxide synthase biosynthetic process|signal transduction|water-soluble vitamin metabolic process	cytosol	cytokine activity|nicotinamide phosphoribosyltransferase activity|nicotinate phosphoribosyltransferase activity|nicotinate-nucleotide diphosphorylase (carboxylating) activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	14						GAGGATGTTGAACTCGGCTTC	0.692													5	5					0	0	1	0	0	G	105925305	A	G	105925305	3	3	81	1	0	0	0	0	1	0	0	0	10197	246	9	3	1493	3	NAMPT	7	105925305	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	15674	105925305	53213358	6300	9916											
PIK3CG	5294	broad.mit.edu	37	7	106508578	106508578	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:106508578G>A	ENST00000359195.3	+	2	882	c.572G>A	c.(571-573)cGc>cAc	p.R191H	PIK3CG_ENST00000496166.1_Missense_Mutation_p.R191H|PIK3CG_ENST00000440650.2_Missense_Mutation_p.R191H	NM_001282427.1|NM_002649.2	NP_001269356.1|NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	191					G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						GTGGCCAGCCGCGACCCCAAG	0.607													16	47					0	0	1	0	0	A	106508578	G	A	106508578	3	1	81	1	0	0	0	0	1	0	0	0	11964	1087	38	1	574	1	PIK3CG	7	106508578	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	583273	106508578	52630085	6301	9917											
PIK3CG	5294	broad.mit.edu	37	7	106509841	106509841	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:106509841C>T	ENST00000359195.3	+	2	2145	c.1835C>T	c.(1834-1836)gCc>gTc	p.A612V	PIK3CG_ENST00000496166.1_Missense_Mutation_p.A612V|PIK3CG_ENST00000440650.2_Missense_Mutation_p.A612V	NM_001282427.1|NM_002649.2	NP_001269356.1|NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	612					G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						CAATTGTTGGCCAGAAGGGAA	0.428													54	110					0	0	1	0	0	T	106509841	C	T	106509841	3	4	81	1	0	0	0	0	1	0	0	0	11964	739	26	2	1837	2	PIK3CG	7	106509841	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1263	106509841	52628822	6302	9918											
COG5	10466	broad.mit.edu	37	7	106871105	106871105	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:106871105C>T	ENST00000393603.2	-	19	2487	c.2216G>A	c.(2215-2217)cGa>cAa	p.R739Q	COG5_ENST00000297135.3_Missense_Mutation_p.R739Q|COG5_ENST00000347053.3_Missense_Mutation_p.R718Q	NM_001161520.1	NP_001154992.1	Q9UP83	COG5_HUMAN	component of oligomeric golgi complex 5	718					intra-Golgi vesicle-mediated transport|protein transport	cytosol|Golgi membrane|Golgi transport complex|nucleus	protein binding	p.R739L(1)		breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|skin(4)|stomach(1)	40						ATCAGATACTCGTCTACAGAA	0.388													18	214					0	0	1	0	0	T	106871105	C	T	106871105	3	4	81	1	0	0	0	0	1	0	0	0	3684	884	31	1	386	1	COG5	7	106871105	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	361264	106871105	52267558	6303	9919											
COG5	10466	broad.mit.edu	37	7	106898773	106898773	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:106898773C>A	ENST00000393603.2	-	15	1995	c.1724G>T	c.(1723-1725)aGa>aTa	p.R575I	COG5_ENST00000297135.3_Missense_Mutation_p.R575I|COG5_ENST00000347053.3_Missense_Mutation_p.R575I	NM_001161520.1	NP_001154992.1	Q9UP83	COG5_HUMAN	component of oligomeric golgi complex 5	575					intra-Golgi vesicle-mediated transport|protein transport	cytosol|Golgi membrane|Golgi transport complex|nucleus	protein binding			breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|skin(4)|stomach(1)	40						CACATTTCTTCTCTGTCCTTC	0.328													18	170					5.35267e-07	6.21096e-07	1	1	0	A	106898773	C	A	106898773	3	1	81	1	0	0	0	0	1	0	0	0	3684	913	32	4	894	4	COG5	7	106898773	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	27668	106898773	52239890	6304	9920											
COG5	10466	broad.mit.edu	37	7	107052970	107052970	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:107052970G>A	ENST00000393603.2	-	7	1010	c.739C>T	c.(739-741)Cta>Tta	p.L247L	COG5_ENST00000475638.2_5'UTR|COG5_ENST00000297135.3_Silent_p.L247L|COG5_ENST00000347053.3_Silent_p.L247L	NM_001161520.1	NP_001154992.1	Q9UP83	COG5_HUMAN	component of oligomeric golgi complex 5	247					intra-Golgi vesicle-mediated transport|protein transport	cytosol|Golgi membrane|Golgi transport complex|nucleus	protein binding			breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|skin(4)|stomach(1)	40						CCCTGCTCTAGTAGGCGCTTA	0.338													5	106					0	0	1	0	0	A	107052970	G	A	107052970	2	1	81	1	0	0	0	0	0	0	0	1	3684	1020	36	2		2	COG5	7	107052970	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	154197	107052970	52085693	6305	9921											
GPR22	2845	broad.mit.edu	37	7	107114902	107114903	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:107114902_107114903insT	ENST00000304402.4	+	3	1740_1741	c.397_398insT	c.(397-399)gttfs	p.V133fs	COG5_ENST00000347053.3_Intron|COG5_ENST00000393603.2_Intron|COG5_ENST00000297135.3_Intron|COG5_ENST00000475638.2_Intron	NM_005295.2	NP_005286.2	Q99680	GPR22_HUMAN	G protein-coupled receptor 22	133						integral to plasma membrane	G-protein coupled receptor activity			large_intestine(3)|lung(6)|ovary(2)|stomach(1)	12						AGCAATCAACGTTTTTGCTATC	0.391													92	75	---	---	---	---						T	107114903	-	T	107114902	7	5	81	1	0	1	1	0	0	0	0	0	6722	1145	40	0	399	0	GPR22	7	107114902	Frame_Shift_Ins	INS	-	TCGA-DU-6392-01A-11D-1705-08	61932	107114902	52023761	6306	9922											
SLC26A4	5172	broad.mit.edu	37	7	107314714	107314714	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:107314714C>A	ENST00000265715.3	+	5	745	c.521C>A	c.(520-522)aCt>aAt	p.T174N		NM_000441.1	NP_000432.1	O43511	S26A4_HUMAN	solute carrier family 26 (anion exchanger), member 4	174					regulation of pH|regulation of protein localization|sensory perception of sound	apical plasma membrane|integral to membrane	chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity			central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						TTAAATACTACTATGATAGAC	0.438									Pendred syndrome				53	59					1.54886e-18	2.01113e-18	1	1	0	A	107314714	C	A	107314714	3	1	81	1	0	0	0	0	1	0	0	0	14574	565	20	4	535	4	SLC26A4	7	107314714	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	199812	107314714	51823949	6307	9923											
SLC26A4	5172	broad.mit.edu	37	7	107323797	107323797	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:107323797G>A	ENST00000265715.3	+	7	1140	c.916G>A	c.(916-918)Gtg>Atg	p.V306M		NM_000441.1	NP_000432.1	O43511	S26A4_HUMAN	solute carrier family 26 (anion exchanger), member 4	306					regulation of pH|regulation of protein localization|sensory perception of sound	apical plasma membrane|integral to membrane	chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity			central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						AGAAGTAATTGTGGTAAGTAG	0.338									Pendred syndrome				35	119					0	0	1	0	0	A	107323797	G	A	107323797	3	1	81	1	0	0	0	0	1	0	0	0	14574	1377	48	2	938	2	SLC26A4	7	107323797	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	9083	107323797	51814866	6308	9924											
SLC26A4	5172	broad.mit.edu	37	7	107330592	107330592	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:107330592C>T	ENST00000265715.3	+	10	1397	c.1173C>T	c.(1171-1173)agC>agT	p.S391S		NM_000441.1	NP_000432.1	O43511	S26A4_HUMAN	solute carrier family 26 (anion exchanger), member 4	391			S -> N (in PDS).		regulation of pH|regulation of protein localization|sensory perception of sound	apical plasma membrane|integral to membrane	chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity			central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						TTGGGATCAGCAACATCTTCT	0.473									Pendred syndrome				14	102					0	0	1	0	0	T	107330592	C	T	107330592	2	4	81	1	0	0	0	0	0	0	0	1	14574	709	25	2		2	SLC26A4	7	107330592	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	6795	107330592	51808071	6309	9925											
CBLL1	79872	broad.mit.edu	37	7	107395924	107395924	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:107395924A>T	ENST00000440859.3	+	5	895	c.428A>T	c.(427-429)aAg>aTg	p.K143M	CBLL1_ENST00000415884.2_Intron|CBLL1_ENST00000222597.2_Missense_Mutation_p.K142M	NM_001284291.1|NM_024814.2	NP_001271220.1|NP_079090.2	Q75N03	HAKAI_HUMAN	Cbl proto-oncogene-like 1, E3 ubiquitin protein ligase						cell-cell adhesion|negative regulation of cell adhesion|positive regulation of cell migration|positive regulation of endocytosis		protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(3)	21						AAGGGAGATAAGATGTGTCCA	0.299													7	126					0	0	1	0	0	T	107395924	A	T	107395924	3	4	81	1	0	0	0	0	1	0	0	0	2721	72	3	5	446	5	CBLL1	7	107395924	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	65332	107395924	51742739	6310	9926											
CBLL1	79872	broad.mit.edu	37	7	107399325	107399325	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:107399325C>T	ENST00000440859.3	+	6	1645	c.1178C>T	c.(1177-1179)gCc>gTc	p.A393V	CBLL1_ENST00000222597.2_Missense_Mutation_p.A392V	NM_001284291.1|NM_024814.2	NP_001271220.1|NP_079090.2	Q75N03	HAKAI_HUMAN	Cbl proto-oncogene-like 1, E3 ubiquitin protein ligase		Pro-rich.				cell-cell adhesion|negative regulation of cell adhesion|positive regulation of cell migration|positive regulation of endocytosis		protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(3)	21						CATATTATTGCCCAGATGCCA	0.532													61	168					0	0	1	0	0	T	107399325	C	T	107399325	3	4	81	1	0	0	0	0	1	0	0	0	2721	739	26	2	1200	2	CBLL1	7	107399325	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3401	107399325	51739338	6311	9927											
CBLL1	79872	broad.mit.edu	37	7	107399540	107399540	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:107399540C>T	ENST00000440859.3	+	6	1860	c.1393C>T	c.(1393-1395)Cga>Tga	p.R465*	CBLL1_ENST00000222597.2_Nonsense_Mutation_p.R464*	NM_001284291.1|NM_024814.2	NP_001271220.1|NP_079090.2	Q75N03	HAKAI_HUMAN	Cbl proto-oncogene-like 1, E3 ubiquitin protein ligase		Pro-rich.				cell-cell adhesion|negative regulation of cell adhesion|positive regulation of cell migration|positive regulation of endocytosis		protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(3)	21						ACCACCTCCACGATTGCAGGG	0.488													13	119					0	0	1	0	0	T	107399540	C	T	107399540	4	4	81	1	0	0	0	0	0	1	0	0	2721	528	19	1	1415	1	CBLL1	7	107399540	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	215	107399540	51739123	6312	9928											
SLC26A3	1811	broad.mit.edu	37	7	107415298	107415298	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:107415298C>T	ENST00000340010.5	-	16	1881	c.1697G>A	c.(1696-1698)cGa>cAa	p.R566Q	SLC26A3_ENST00000422236.2_Missense_Mutation_p.R531Q	NM_000111.2	NP_000102.1	P40879	S26A3_HUMAN	solute carrier family 26 (anion exchanger), member 3	566	STAS.				excretion	integral to membrane|membrane fraction	inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						GCGTAGAATTCGAAGTGGACT	0.398													24	55					0	0	1	0	0	T	107415298	C	T	107415298	3	4	81	1	0	0	0	0	1	0	0	0	14573	884	31	1	621	1	SLC26A3	7	107415298	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	15758	107415298	51723365	6313	9929											
SLC26A3	1811	broad.mit.edu	37	7	107427951	107427951	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:107427951G>A	ENST00000340010.5	-	7	923	c.739C>T	c.(739-741)Cta>Tta	p.L247L	SLC26A3_ENST00000422236.2_Silent_p.L212L	NM_000111.2	NP_000102.1	P40879	S26A3_HUMAN	solute carrier family 26 (anion exchanger), member 3	247					excretion	integral to membrane|membrane fraction	inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						ACAGAGTATAGTACCTACAAT	0.323													73	41					0	0	1	0	0	A	107427951	G	A	107427951	2	1	81	1	0	0	0	0	0	0	0	1	14573	1020	36	2		2	SLC26A3	7	107427951	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	12653	107427951	51710712	6314	9930											
LAMB1	3912	broad.mit.edu	37	7	107600145	107600145	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:107600145C>T	ENST00000393561.1	-	17	2705	c.2521G>A	c.(2521-2523)Gga>Aga	p.G841R	LAMB1_ENST00000222399.6_Missense_Mutation_p.G817R|LAMB1_ENST00000393560.1_Missense_Mutation_p.G817R			P07942	LAMB1_HUMAN	laminin, beta 1	817	Laminin EGF-like 7.				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CGTTTGCATCCACTGGGGCCA	0.532													12	34					0	0	1	0	0	T	107600145	C	T	107600145	3	4	81	1	0	0	0	0	1	0	0	0	8649	603	21	2	2975	2	LAMB1	7	107600145	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	172194	107600145	51538518	6315	9931											
LAMB1	3912	broad.mit.edu	37	7	107618547	107618547	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:107618547G>T	ENST00000393561.1	-	7	1201	c.1017C>A	c.(1015-1017)ttC>ttA	p.F339L	LAMB1_ENST00000222399.6_Missense_Mutation_p.F315L|LAMB1_ENST00000393560.1_Missense_Mutation_p.F315L			P07942	LAMB1_HUMAN	laminin, beta 1	315	Laminin EGF-like 2.				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AATCATGGTAGAAATCCATGC	0.433													6	157					0.00116845	0.00124301	1	1	0	T	107618547	G	T	107618547	3	4	81	1	0	0	0	0	1	0	0	0	8649	933	33	4	4519	4	LAMB1	7	107618547	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	18402	107618547	51520116	6316	9932											
LAMB4	22798	broad.mit.edu	37	7	107696370	107696370	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:107696370G>A	ENST00000388781.3	-	25	3545	c.3462C>T	c.(3460-3462)agC>agT	p.S1154S	LAMB4_ENST00000205386.4_Silent_p.S1154S|LAMB4_ENST00000388780.3_Silent_p.S1154S	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	1154	Laminin EGF-like 13.				cell adhesion	basement membrane				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						ATCTCTGGCCGCTGACACCCT	0.527													43	25					0	0	1	0	0	A	107696370	G	A	107696370	2	1	81	1	0	0	0	0	0	0	0	1	8652	1078	38	1		1	LAMB4	7	107696370	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	77823	107696370	51442293	6317	9933											
LAMB4	22798	broad.mit.edu	37	7	107707029	107707029	+	Silent	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:107707029A>T	ENST00000388781.3	-	20	2546	c.2463T>A	c.(2461-2463)ccT>ccA	p.P821P	LAMB4_ENST00000205386.4_Silent_p.P821P|LAMB4_ENST00000388780.3_Silent_p.P821P	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	821	Laminin EGF-like 7.				cell adhesion	basement membrane				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						TTGATCCTTGAGGATGGCAGT	0.537													4	24					0	0	1	0	0	T	107707029	A	T	107707029	2	4	81	1	0	0	0	0	0	0	0	1	8652	291	11	5		5	LAMB4	7	107707029	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	10659	107707029	51431634	6318	9934											
LAMB4	22798	broad.mit.edu	37	7	107752304	107752304	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:107752304C>T	ENST00000388781.3	-	4	363	c.280G>A	c.(280-282)Gta>Ata	p.V94I	LAMB4_ENST00000418464.1_Missense_Mutation_p.V94I|LAMB4_ENST00000205386.4_Missense_Mutation_p.V94I|LAMB4_ENST00000414450.2_Missense_Mutation_p.V94I|LAMB4_ENST00000388780.3_Missense_Mutation_p.V94I	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	94	Laminin N-terminal.				cell adhesion	basement membrane				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						TCAAAACTTACAATGACATTC	0.363													34	111					0	0	1	0	0	T	107752304	C	T	107752304	3	4	81	1	0	0	0	0	1	0	0	0	8652	478	17	2	5129	2	LAMB4	7	107752304	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	45275	107752304	51386359	6319	9935											
LAMB4	22798	broad.mit.edu	37	7	107763606	107763606	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:107763606G>A	ENST00000388781.3	-	2	87	c.4C>T	c.(4-6)Caa>Taa	p.Q2*	LAMB4_ENST00000418464.1_Nonsense_Mutation_p.Q2*|LAMB4_ENST00000205386.4_Nonsense_Mutation_p.Q2*|LAMB4_ENST00000414450.2_Nonsense_Mutation_p.Q2*|LAMB4_ENST00000388780.3_Nonsense_Mutation_p.Q2*	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	2					cell adhesion	basement membrane				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						AGTTGAAATTGCATTCTTTTG	0.308													53	8					0	0	1	0	0	A	107763606	G	A	107763606	4	1	81	1	0	0	0	0	0	1	0	0	8652	1328	46	2	5413	2	LAMB4	7	107763606	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	11302	107763606	51375057	6320	9936											
NRCAM	4897	broad.mit.edu	37	7	107834511	107834511	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:107834511C>T	ENST00000379028.3	-	17	2205	c.1735G>A	c.(1735-1737)Gtc>Atc	p.V579I	NRCAM_ENST00000413765.2_Missense_Mutation_p.V560I|NRCAM_ENST00000379022.4_Missense_Mutation_p.V579I|NRCAM_ENST00000351718.4_Missense_Mutation_p.V573I|NRCAM_ENST00000425651.2_Missense_Mutation_p.V579I|NRCAM_ENST00000379024.4_Missense_Mutation_p.V560I			Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	579	Ig-like 6.				angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						AGCCACAGGACAGTGAGGGAT	0.418													52	52					0	0	1	0	0	T	107834511	C	T	107834511	3	4	81	1	0	0	0	0	1	0	0	0	10692	478	17	2	2277	2	NRCAM	7	107834511	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	70905	107834511	51304152	6321	9937											
NRCAM	4897	broad.mit.edu	37	7	107834762	107834762	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:107834762C>T	ENST00000379028.3	-	16	2044	c.1574G>A	c.(1573-1575)tGt>tAt	p.C525Y	NRCAM_ENST00000413765.2_Missense_Mutation_p.C506Y|NRCAM_ENST00000379022.4_Missense_Mutation_p.C525Y|NRCAM_ENST00000351718.4_Missense_Mutation_p.C519Y|NRCAM_ENST00000425651.2_Missense_Mutation_p.C525Y|NRCAM_ENST00000379024.4_Missense_Mutation_p.C506Y			Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	525	Ig-like 5.				angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						CCTTGCAACACACGTATAAGT	0.353													6	142					0	0	1	0	0	T	107834762	C	T	107834762	3	4	81	1	0	0	0	0	1	0	0	0	10692	478	17	2	2442	2	NRCAM	7	107834762	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	251	107834762	51303901	6322	9938											
THAP5	168451	broad.mit.edu	37	7	108205181	108205181	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:108205181A>G	ENST00000415914.3	-	3	795	c.642T>C	c.(640-642)agT>agC	p.S214S	THAP5_ENST00000493722.1_5'UTR|THAP5_ENST00000313516.5_Silent_p.S172S|THAP5_ENST00000438865.1_3'UTR	NM_001130475.1	NP_001123947.1	Q7Z6K1	THAP5_HUMAN	THAP domain containing 5	214					cell cycle|negative regulation of cell cycle	nucleus	DNA binding|metal ion binding|protease binding			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	8						ATTGATGAATACTTTCTGAAT	0.328													43	35					0	0	1	0	0	G	108205181	A	G	108205181	2	3	81	1	0	0	0	0	0	0	0	1	15907	388	14	3		3	THAP5	7	108205181	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	370419	108205181	50933482	6323	9939											
LRRN3	54674	broad.mit.edu	37	7	110763060	110763060	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:110763060A>T	ENST00000451085.1	+	4	1278	c.232A>T	c.(232-234)Act>Tct	p.T78S	LRRN3_ENST00000422987.3_Missense_Mutation_p.T78S|IMMP2L_ENST00000452895.1_Intron|IMMP2L_ENST00000415362.1_Intron|IMMP2L_ENST00000405709.2_Intron|IMMP2L_ENST00000489381.1_Intron|IMMP2L_ENST00000331762.3_Intron|LRRN3_ENST00000308478.5_Missense_Mutation_p.T78S|IMMP2L_ENST00000447215.1_Intron|IMMP2L_ENST00000437687.1_Intron|IMMP2L_ENST00000450877.1_Intron	NM_001099660.1	NP_001093130.1	Q9H3W5	LRRN3_HUMAN	leucine rich repeat neuronal 3	78						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)		TCTCCTACAGACTAACAATAT	0.353													9	119					0	0	1	0	0	T	110763060	A	T	110763060	3	4	81	1	0	0	0	0	1	0	0	0	9081	275	10	5	234	5	LRRN3	7	110763060	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	2557879	110763060	48375603	6324	9940											
LRRN3	54674	broad.mit.edu	37	7	110764050	110764050	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:110764050C>T	ENST00000451085.1	+	4	2268	c.1222C>T	c.(1222-1224)Cgg>Tgg	p.R408W	LRRN3_ENST00000422987.3_Missense_Mutation_p.R408W|IMMP2L_ENST00000452895.1_Intron|IMMP2L_ENST00000415362.1_Intron|IMMP2L_ENST00000405709.2_Intron|IMMP2L_ENST00000489381.1_Intron|IMMP2L_ENST00000331762.3_Intron|LRRN3_ENST00000308478.5_Missense_Mutation_p.R408W|IMMP2L_ENST00000447215.1_Intron|IMMP2L_ENST00000437687.1_Intron|IMMP2L_ENST00000450877.1_Intron	NM_001099660.1	NP_001093130.1	Q9H3W5	LRRN3_HUMAN	leucine rich repeat neuronal 3	408	LRRCT.					integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)		TCAGAATGTTCGGCAAGTGCA	0.438													6	107					0	0	1	0	0	T	110764050	C	T	110764050	3	4	81	1	0	0	0	0	1	0	0	0	9081	875	31	1	1224	1	LRRN3	7	110764050	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	990	110764050	48374613	6325	9941											
LRRN3	54674	broad.mit.edu	37	7	110764150	110764150	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:110764150C>A	ENST00000451085.1	+	4	2368	c.1322C>A	c.(1321-1323)tCc>tAc	p.S441Y	LRRN3_ENST00000422987.3_Missense_Mutation_p.S441Y|IMMP2L_ENST00000452895.1_Intron|IMMP2L_ENST00000415362.1_Intron|IMMP2L_ENST00000405709.2_Intron|IMMP2L_ENST00000489381.1_Intron|IMMP2L_ENST00000331762.3_Intron|LRRN3_ENST00000308478.5_Missense_Mutation_p.S441Y|IMMP2L_ENST00000447215.1_Intron|IMMP2L_ENST00000437687.1_Intron|IMMP2L_ENST00000450877.1_Intron	NM_001099660.1	NP_001093130.1	Q9H3W5	LRRN3_HUMAN	leucine rich repeat neuronal 3	441	Ig-like C2-type.					integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)		AGCTATGTTTCCTTTCACTGT	0.433													9	200					0.000673444	0.000721718	1	1	0	A	110764150	C	A	110764150	3	1	81	1	0	0	0	0	1	0	0	0	9081	855	30	5	1324	5	LRRN3	7	110764150	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	100	110764150	48374513	6326	9942											
DOCK4	9732	broad.mit.edu	37	7	111382077	111382077	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:111382077C>A	ENST00000428084.1	-	45	5061	c.4789G>T	c.(4789-4791)Ggg>Tgg	p.G1597W	DOCK4_ENST00000494651.2_Missense_Mutation_p.G471W|DOCK4_ENST00000437633.1_Missense_Mutation_p.G1588W			Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	1588	DHR-2.				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				ACCTGTATCCCTAAGCTCGAC	0.448													5	73					1.23904e-05	1.39156e-05	1	1	0	A	111382077	C	A	111382077	3	1	81	1	0	0	0	0	1	0	0	0	4716	681	24	4	1174	4	DOCK4	7	111382077	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	617927	111382077	47756586	6327	9943											
DOCK4	9732	broad.mit.edu	37	7	111484843	111484843	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:111484843C>T	ENST00000428084.1	-	25	2984	c.2712G>A	c.(2710-2712)atG>atA	p.M904I	DOCK4_ENST00000437633.1_Missense_Mutation_p.M904I			Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	904					cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				ACTGGAACCGCATTGCTGAGC	0.512													12	160					0	0	1	0	0	T	111484843	C	T	111484843	3	4	81	1	0	0	0	0	1	0	0	0	4716	710	25	2	3300	2	DOCK4	7	111484843	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	102766	111484843	47653820	6328	9944											
DOCK4	9732	broad.mit.edu	37	7	111617249	111617249	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:111617249G>A	ENST00000428084.1	-	8	911	c.639C>T	c.(637-639)aaC>aaT	p.N213N	DOCK4_ENST00000476846.1_5'UTR|DOCK4_ENST00000437633.1_Silent_p.N213N			Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	213					cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				CCTCTCCCAGGTTGGAACACA	0.507													6	16					0	0	1	0	0	A	111617249	G	A	111617249	2	1	81	1	0	0	0	0	0	0	0	1	4716	1252	44	2		2	DOCK4	7	111617249	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	132406	111617249	47521414	6329	9945											
ZNF277	11179	broad.mit.edu	37	7	111958314	111958314	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:111958314A>G	ENST00000361822.3	+	5	672	c.543A>G	c.(541-543)gaA>gaG	p.E181E	ZNF277_ENST00000450657.1_Silent_p.E181E	NM_021994.2	NP_068834.2	Q9NRM2	ZN277_HUMAN	zinc finger protein 277	181						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	15						GCAATGAAGAATTCCTTGGAA	0.328													4	58					0	0	1	0	0	G	111958314	A	G	111958314	2	3	81	1	0	0	0	0	0	0	0	1	17870	98	4	3		3	ZNF277	7	111958314	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	341065	111958314	47180349	6330	9946											
TMEM168	64418	broad.mit.edu	37	7	112424426	112424426	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:112424426G>A	ENST00000312814.6	-	2	1015	c.455C>T	c.(454-456)aCt>aTt	p.T152I	TMEM168_ENST00000454074.1_Missense_Mutation_p.T152I	NM_022484.4	NP_071929.3	Q9H0V1	TM168_HUMAN	transmembrane protein 168							integral to membrane|transport vesicle				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|stomach(1)	32						GGTTAGTAAAGTGGGCCGATG	0.408													8	82					0	0	1	0	0	A	112424426	G	A	112424426	3	1	81	1	0	0	0	0	1	0	0	0	16143	1029	36	2	1654	2	TMEM168	7	112424426	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	466112	112424426	46714237	6331	9947											
C7orf60	154743	broad.mit.edu	37	7	112461820	112461820	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:112461820G>A	ENST00000297145.4	-	5	1362	c.1197C>T	c.(1195-1197)gaC>gaT	p.D399D		NM_152556.2	NP_689769.2	Q1RMZ1	CG060_HUMAN	chromosome 7 open reading frame 60	399										breast(1)|endometrium(2)|lung(7)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	17						GTAATATGGGGTCTTCTAGCT	0.393													89	80					0	0	1	0	0	A	112461820	G	A	112461820	2	1	81	1	0	0	0	0	0	0	0	1	2423	1252	44	2		2	C7orf60	7	112461820	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	37394	112461820	46676843	6332	9948											
PPP1R3A	5506	broad.mit.edu	37	7	113519195	113519195	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:113519195T>C	ENST00000284601.3	-	4	2020	c.1952A>G	c.(1951-1953)cAg>cGg	p.Q651R		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	651					glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						TTGTTTATGCTGTGGGCTATT	0.353													7	204					0	0	1	0	0	C	113519195	T	C	113519195	3	2	81	1	0	0	0	0	1	0	0	0	12420	1580	55	3	1420	3	PPP1R3A	7	113519195	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	1057375	113519195	45619468	6333	9949											
PPP1R3A	5506	broad.mit.edu	37	7	113519733	113519733	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:113519733C>A	ENST00000284601.3	-	4	1482	c.1414G>T	c.(1414-1416)Gga>Tga	p.G472*		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	472					glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						TTAGCTCCTCCTTCATGTTTT	0.398													23	65					1.10513e-12	1.38486e-12	1	1	0	A	113519733	C	A	113519733	4	1	81	1	0	0	0	0	0	1	0	0	12420	690	24	4	1958	4	PPP1R3A	7	113519733	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	538	113519733	45618930	6334	9950											
PPP1R3A	5506	broad.mit.edu	37	7	113519835	113519835	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:113519835G>T	ENST00000284601.3	-	4	1380	c.1312C>A	c.(1312-1314)Ctg>Atg	p.L438M		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	438					glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						TTATCATCCAGGACTTCTTTG	0.408													8	181					2.17888e-05	2.43576e-05	1	1	0	T	113519835	G	T	113519835	3	4	81	1	0	0	0	0	1	0	0	0	12420	991	35	4	2060	4	PPP1R3A	7	113519835	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	102	113519835	45618828	6335	9951											
PPP1R3A	5506	broad.mit.edu	37	7	113522168	113522168	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:113522168C>A	ENST00000284601.3	-	3	960	c.892G>T	c.(892-894)Gaa>Taa	p.E298*		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	298					glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						TTACTGGCTTCCAAATCTTCC	0.333													6	95					0.00198382	0.00209725	1	1	0	A	113522168	C	A	113522168	4	1	81	1	0	0	0	0	0	1	0	0	12420	864	30	5	2484	5	PPP1R3A	7	113522168	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2333	113522168	45616495	6336	9952											
FOXP2	93986	broad.mit.edu	37	7	114302238	114302238	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:114302238C>T	ENST00000408937.3	+	15	2215	c.1841C>T	c.(1840-1842)aCa>aTa	p.T614I	FOXP2_ENST00000393494.2_Missense_Mutation_p.T589I|FOXP2_ENST00000350908.4_Missense_Mutation_p.T589I|FOXP2_ENST00000393498.2_Missense_Mutation_p.T568I|FOXP2_ENST00000403559.4_Missense_Mutation_p.T606I|FOXP2_ENST00000393491.3_Missense_Mutation_p.T404I|FOXP2_ENST00000393500.3_3'UTR|FOXP2_ENST00000393489.3_Missense_Mutation_p.T497I	NM_001172766.2|NM_014491.3|NM_148898.3	NP_001166237.1|NP_055306.1|NP_683696.2	O15409	FOXP2_HUMAN	forkhead box P2	589					camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding			breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						CAAAAGATAACAGGGTATGTT	0.413													10	73					0	0	1	0	0	T	114302238	C	T	114302238	3	4	81	1	0	0	0	0	1	0	0	0	6061	478	17	2	1983	2	FOXP2	7	114302238	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	780070	114302238	44836425	6337	9953											
FOXP2	93986	broad.mit.edu	37	7	114304486	114304486	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:114304486G>A	ENST00000408937.3	+	17	2447	c.2073G>A	c.(2071-2073)ccG>ccA	p.P691P	FOXP2_ENST00000393494.2_Silent_p.P666P|FOXP2_ENST00000350908.4_Silent_p.P666P|FOXP2_ENST00000393498.2_Silent_p.P645P|FOXP2_ENST00000403559.4_Silent_p.P683P|FOXP2_ENST00000393491.3_Silent_p.P481P|FOXP2_ENST00000393500.3_3'UTR|FOXP2_ENST00000393489.3_Silent_p.P574P	NM_001172766.2|NM_014491.3|NM_148898.3	NP_001166237.1|NP_055306.1|NP_683696.2	O15409	FOXP2_HUMAN	forkhead box P2	666					camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding			breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						CACCTCAGCCGCACATGTAAG	0.428													14	43					0	0	1	0	0	A	114304486	G	A	114304486	2	1	81	1	0	0	0	0	0	0	0	1	6061	1074	38	1		1	FOXP2	7	114304486	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2248	114304486	44834177	6338	9954											
TFEC	22797	broad.mit.edu	37	7	115594657	115594657	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:115594657delT	ENST00000265440.7	-	5	602	c.422delA	c.(421-423)aagfs	p.K141fs	TFEC_ENST00000320239.7_Frame_Shift_Del_p.K112fs|TFEC_ENST00000393485.1_Frame_Shift_Del_p.K112fs|TFEC_ENST00000457268.1_Frame_Shift_Del_p.K74fs|TFEC_ENST00000484212.1_Frame_Shift_Del_p.K231fs	NM_012252.3	NP_036384.1	O14948	TFEC_HUMAN	transcription factor EC	141	Helix-loop-helix motif.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity	p.K141fs*42(1)		NS(1)|kidney(1)|large_intestine(5)|lung(13)|prostate(2)|skin(1)|urinary_tract(2)	25			STAD - Stomach adenocarcinoma(10;0.00878)			GTGGTTGTCCTTTTTTTGTCT	0.333													18	82	---	---	---	---						-	115594657	T	-	115594657	7	5	81	1	0	1	0	1	0	0	0	0	15862	1609	56	0	637	0	TFEC	7	115594657	Frame_Shift_Del	DEL	T	TCGA-DU-6392-01A-11D-1705-08	1290171	115594657	43544006	6339	9955											
TES	26136	broad.mit.edu	37	7	115889304	115889304	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:115889304C>T	ENST00000358204.4	+	3	559	c.344C>T	c.(343-345)cCt>cTt	p.P115L	AC002066.1_ENST00000446355.2_RNA|TES_ENST00000393481.2_Missense_Mutation_p.P106L|AC073130.3_ENST00000444244.1_RNA|TES_ENST00000485009.1_3'UTR|TES_ENST00000537767.1_Intron	NM_015641.3	NP_056456.1	Q9UGI8	TES_HUMAN	testis derived transcript (3 LIM domains)	115	PET.				negative regulation of cell proliferation	cytoplasm|focal adhesion|nucleus|protein complex	zinc ion binding			endometrium(4)|large_intestine(4)|lung(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	12	Lung NSC(10;0.0137)|all_lung(10;0.0148)	Breast(660;0.0602)	STAD - Stomach adenocarcinoma(10;0.00878)			GAGTGGGCTCCTCCTGTCCAG	0.393													81	56					0	0	1	0	0	T	115889304	C	T	115889304	3	4	81	1	0	0	0	0	1	0	0	0	15824	681	24	2	354	2	TES	7	115889304	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	294647	115889304	43249359	6340	9956											
MET	4233	broad.mit.edu	37	7	116395560	116395560	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:116395560C>T	ENST00000397752.3	+	6	2053	c.1853C>T	c.(1852-1854)aCg>aTg	p.T618M	MET_ENST00000436117.2_Missense_Mutation_p.T618M|MET_ENST00000318493.6_Missense_Mutation_p.T618M	NM_000245.2|NM_001127500.1	NP_000236.2|NP_001120972.1	P08581	MET_HUMAN	met proto-oncogene	618	IPT/TIG 1.				axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			AGTGAGAGCACGATGAATACG	0.363			Mis		"papillary renal, head-neck squamous cell "	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)				48	48					0	0	1	0	0	T	116395560	C	T	116395560	3	4	81	1	0	0	0	0	1	0	0	0	9535	536	19	1	1871	1	MET	7	116395560	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	506256	116395560	42743103	6341	9957											
MET	4233	broad.mit.edu	37	7	116418857	116418857	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:116418857A>G	ENST00000397752.3	+	17	3568	c.3368A>G	c.(3367-3369)cAa>cGa	p.Q1123R	MET_ENST00000539704.1_5'UTR|MET_ENST00000318493.6_Missense_Mutation_p.Q1141R	NM_000245.2|NM_001127500.1	NP_000236.2|NP_001120972.1	P08581	MET_HUMAN	met proto-oncogene	1123	Protein kinase.				axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			GAAGTTTCCCAATTTCTGACC	0.438			Mis		"papillary renal, head-neck squamous cell "	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)				7	57					0	0	1	0	0	G	116418857	A	G	116418857	3	3	81	1	0	0	0	0	1	0	0	0	9535	130	5	3	3484	3	MET	7	116418857	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	23297	116418857	42719806	6342	9958											
MET	4233	broad.mit.edu	37	7	116435789	116435789	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:116435789T>C	ENST00000397752.3	+	20	4079	c.3879T>C	c.(3877-3879)acT>acC	p.T1293T	MET_ENST00000539704.1_Silent_p.T163T|MET_ENST00000318493.6_Silent_p.T1311T	NM_000245.2|NM_001127500.1	NP_000236.2|NP_001120972.1	P08581	MET_HUMAN	met proto-oncogene	1293	Interaction with RANBP9.|Protein kinase.				axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			TTGATATAACTGTTTACTTGT	0.453			Mis		"papillary renal, head-neck squamous cell "	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)		OREG0003446	type=REGULATORY REGION|Gene=MET|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	179	144					0	0	1	0	0	C	116435789	T	C	116435789	2	2	81	1	0	0	0	0	0	0	0	1	9535	1567	55	3		3	MET	7	116435789	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	16932	116435789	42702874	6343	9959											
MET	4233	broad.mit.edu	37	7	116436105	116436105	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:116436105C>A	ENST00000397752.3	+	21	4300	c.4100C>A	c.(4099-4101)tCt>tAt	p.S1367Y	MET_ENST00000539704.1_Missense_Mutation_p.S237Y|MET_ENST00000318493.6_Missense_Mutation_p.S1385Y	NM_000245.2|NM_001127500.1	NP_000236.2|NP_001120972.1	P08581	MET_HUMAN	met proto-oncogene	1367	Interaction with RANBP9.				axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			CCGTATCCTTCTCTGTTGTCA	0.468			Mis		"papillary renal, head-neck squamous cell "	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)				143	104					5.35463e-67	7.2165e-67	1	1	0	A	116436105	C	A	116436105	3	1	81	1	0	0	0	0	1	0	0	0	9535	913	32	4	4232	4	MET	7	116436105	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	316	116436105	42702558	6344	9960											
CAPZA2	830	broad.mit.edu	37	7	116533072	116533072	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:116533072A>G	ENST00000361183.3	+	3	267	c.128A>G	c.(127-129)gAc>gGc	p.D43G	CAPZA2_ENST00000490693.1_Missense_Mutation_p.D43G|CAPZA2_ENST00000458284.2_Missense_Mutation_p.D43G	NM_006136.2	NP_006127.1	P47755	CAZA2_HUMAN	capping protein (actin filament) muscle Z-line, alpha 2						actin cytoskeleton organization|actin filament capping|blood coagulation|cellular component movement|innate immune response|protein complex assembly	cytosol|extracellular region|F-actin capping protein complex	actin binding			endometrium(2)|kidney(3)|large_intestine(4)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	13	all_cancers(3;8.53e-08)|all_epithelial(6;7.79e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)		GBM - Glioblastoma multiforme(2;5.01e-06)|STAD - Stomach adenocarcinoma(10;0.000512)|all cancers(2;0.00326)			CTTAATAATGACAATCTTCTC	0.338													5	57					0	0	1	0	0	G	116533072	A	G	116533072	3	3	81	1	0	0	0	0	1	0	0	0	2659	275	10	3	138	3	CAPZA2	7	116533072	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	96967	116533072	42605591	6345	9961											
ST7	7982	broad.mit.edu	37	7	116862958	116862958	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:116862958G>A	ENST00000265437.5	+	16	1896	c.1682G>A	c.(1681-1683)tGc>tAc	p.C561Y	ST7_ENST00000393449.1_Intron|ST7_ENST00000422922.1_Intron|ST7_ENST00000393447.4_Intron|ST7_ENST00000393451.3_Intron|ST7_ENST00000323984.3_Intron|ST7_ENST00000393446.2_Intron|ST7_ENST00000432298.1_Intron|ST7_ENST00000393443.1_Intron|ST7_ENST00000393444.3_Intron	NM_021908.2	NP_068708.1	Q9NRC1	ST7_HUMAN	suppression of tumorigenicity 7	561						integral to membrane	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(1)	21	all_cancers(3;3.88e-07)|all_epithelial(6;3.42e-07)|Lung NSC(10;0.00072)|all_lung(10;0.000847)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		GACTGGAATTGCAAGAGTATT	0.448													14	146					0	0	1	0	0	A	116862958	G	A	116862958	3	1	81	1	0	0	0	0	1	0	0	0	15285	1319	46	2	1744	2	ST7	7	116862958	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	329886	116862958	42275705	6346	9962											
WNT2	7472	broad.mit.edu	37	7	116963006	116963006	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:116963006G>T	ENST00000265441.3	-	1	337	c.38C>A	c.(37-39)cCt>cAt	p.P13H		NM_003391.2	NP_003382.1	P09544	WNT2_HUMAN	wingless-type MMTV integration site family member 2	13					atrial cardiac muscle tissue morphogenesis|canonical Wnt receptor signaling pathway|cardiac epithelial to mesenchymal transition|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|dorsal/ventral axis specification|iris morphogenesis|labyrinthine layer blood vessel development|lens development in camera-type eye|lung induction|mammary gland epithelium development|neuron differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of fibroblast proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, calcium modulating pathway	cytoplasm|extracellular space|proteinaceous extracellular matrix	cytokine activity|frizzled binding|frizzled-2 binding|signal transducer activity			breast(2)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|ovary(3)|prostate(1)|skin(2)	31	all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		CAAGAGCAGAGGGAGCCAGAG	0.622													19	39					1.01871e-10	1.25121e-10	1	1	0	T	116963006	G	T	116963006	3	4	81	1	0	0	0	0	1	0	0	0	17446	1000	35	4	1064	4	WNT2	7	116963006	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	100048	116963006	42175657	6347	9963											
CFTR	1080	broad.mit.edu	37	7	117254736	117254736	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:117254736C>A	ENST00000003084.6	+	21	3569	c.3437C>A	c.(3436-3438)gCt>gAt	p.A1146D	CFTR_ENST00000454343.1_Missense_Mutation_p.A1085D|AC000111.6_ENST00000456270.1_RNA	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	1146	ABC transmembrane type-1 2.				respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	TTGCAGTGGGCTGTAAACTCC	0.353									Cystic Fibrosis				7	144					1.12685e-05	1.27052e-05	1	1	0	A	117254736	C	A	117254736	3	1	81	1	0	0	0	0	1	0	0	0	3316	797	28	4	3519	4	CFTR	7	117254736	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	291730	117254736	41883927	6348	9964											
CTTNBP2	83992	broad.mit.edu	37	7	117424357	117424357	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:117424357G>T	ENST00000160373.3	-	5	2311	c.2220C>A	c.(2218-2220)tcC>tcA	p.S740S		NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	740										breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		CATCTTCACAGGAGTAATTAA	0.448													59	165					7.59065e-32	1.01335e-31	1	1	0	T	117424357	G	T	117424357	2	4	81	1	0	0	0	0	0	0	0	1	4069	987	35	4		4	CTTNBP2	7	117424357	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	169621	117424357	41714306	6349	9965											
CTTNBP2	83992	broad.mit.edu	37	7	117432640	117432640	+	Nonsense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:117432640T>A	ENST00000160373.3	-	4	701	c.610A>T	c.(610-612)Aaa>Taa	p.K204*		NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	204										breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		TTCGTCTTTTTCTTTTCCTCT	0.463													63	58					0	0	1	0	0	A	117432640	T	A	117432640	4	1	81	1	0	0	0	0	0	1	0	0	4069	1792	62	5	4461	5	CTTNBP2	7	117432640	Nonsense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	8283	117432640	41706023	6350	9966											
ANKRD7	56311	broad.mit.edu	37	7	117874815	117874815	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:117874815G>T	ENST00000357099.4	+	4	588	c.415G>T	c.(415-417)Gat>Tat	p.D139Y	ANKRD7_ENST00000265224.4_Missense_Mutation_p.D119Y|ANKRD7_ENST00000417525.1_Missense_Mutation_p.D66Y|ANKRD7_ENST00000433239.1_Missense_Mutation_p.D66Y|ANKRD7_ENST00000477532.1_3'UTR			Q92527	ANKR7_HUMAN	ankyrin repeat domain 7	119					male gonad development					breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)	29						TGCAGACCCAGATCTGAGGGA	0.368													38	147					1.30998e-17	1.69175e-17	1	1	0	T	117874815	G	T	117874815	3	4	81	1	0	0	0	0	1	0	0	0	680	942	33	4	365	4	ANKRD7	7	117874815	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	442175	117874815	41263848	6351	9967											
PTPRZ1	5803	broad.mit.edu	37	7	121650826	121650826	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:121650826A>G	ENST00000393386.2	+	12	2137	c.1726A>G	c.(1726-1728)Agt>Ggt	p.S576G	PTPRZ1_ENST00000449182.1_Missense_Mutation_p.S576G	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	576					central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						TTTATTGACCAGTTTCAAGCT	0.403													3	61					0	0	1	0	0	G	121650826	A	G	121650826	3	3	81	1	0	0	0	0	1	0	0	0	12866	188	7	3	1772	3	PTPRZ1	7	121650826	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	3776011	121650826	37487837	6352	9968											
PTPRZ1	5803	broad.mit.edu	37	7	121650943	121650943	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:121650943G>T	ENST00000393386.2	+	12	2254	c.1843G>T	c.(1843-1845)Gag>Tag	p.E615*	PTPRZ1_ENST00000449182.1_Nonsense_Mutation_p.E615*	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	615					central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						CGAAAACCCAGAGACAATAAC	0.413													20	78					8.10497e-08	9.55076e-08	1	1	0	T	121650943	G	T	121650943	4	4	81	1	0	0	0	0	0	1	0	0	12866	943	33	4	1889	4	PTPRZ1	7	121650943	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	117	121650943	37487720	6353	9969											
PTPRZ1	5803	broad.mit.edu	37	7	121651950	121651950	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:121651950G>A	ENST00000393386.2	+	12	3261	c.2850G>A	c.(2848-2850)gtG>gtA	p.V950V	PTPRZ1_ENST00000449182.1_Intron|PTPRZ1_ENST00000483028.1_Intron	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	950					central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						CAATACCTGTGCATGATTCTG	0.443													33	99					0	0	1	0	0	A	121651950	G	A	121651950	2	1	81	1	0	0	0	0	0	0	0	1	12866	1306	46	2		2	PTPRZ1	7	121651950	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1007	121651950	37486713	6354	9970											
PTPRZ1	5803	broad.mit.edu	37	7	121652220	121652220	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:121652220G>A	ENST00000393386.2	+	12	3531	c.3120G>A	c.(3118-3120)gcG>gcA	p.A1040A	PTPRZ1_ENST00000449182.1_Intron|PTPRZ1_ENST00000483028.1_Intron	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	1040					central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						ATAATAAGGCGCTTTCTAAAA	0.383													25	72					0	0	1	0	0	A	121652220	G	A	121652220	2	1	81	1	0	0	0	0	0	0	0	1	12866	1074	38	1		1	PTPRZ1	7	121652220	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	270	121652220	37486443	6355	9971											
PTPRZ1	5803	broad.mit.edu	37	7	121653746	121653746	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:121653746G>A	ENST00000393386.2	+	12	5057	c.4646G>A	c.(4645-4647)aGt>aAt	p.S1549N	PTPRZ1_ENST00000449182.1_Intron	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	1549					central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity	p.G1549E(1)		NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						GATGAAGAAAGTGGATCAGGG	0.433													30	69					0	0	1	0	0	A	121653746	G	A	121653746	3	1	81	1	0	0	0	0	1	0	0	0	12866	1029	36	2	4692	2	PTPRZ1	7	121653746	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1526	121653746	37484917	6356	9972											
PTPRZ1	5803	broad.mit.edu	37	7	121698887	121698887	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:121698887T>C	ENST00000393386.2	+	28	6973	c.6562T>C	c.(6562-6564)Tgt>Cgt	p.C2188R	PTPRZ1_ENST00000449182.1_Missense_Mutation_p.C1321R	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	2188	Tyrosine-protein phosphatase 2.				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						GCACTTTCAGTGTCCTAAATG	0.368													9	85					0	0	1	0	0	C	121698887	T	C	121698887	3	2	81	1	0	0	0	0	1	0	0	0	12866	1696	59	3	6672	3	PTPRZ1	7	121698887	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	45141	121698887	37439776	6357	9973											
FEZF1	389549	broad.mit.edu	37	7	121944301	121944301	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:121944301G>T	ENST00000442488.2	-	1	258	c.191C>A	c.(190-192)tCt>tAt	p.S64Y	FEZF1_ENST00000427185.2_Missense_Mutation_p.S64Y|FEZF1-AS1_ENST00000428449.1_RNA|FEZF1_ENST00000331178.4_Missense_Mutation_p.S64Y	NM_001024613.2|NM_001160264.1	NP_001019784.2|NP_001153736.1	A0PJY2	FEZF1_HUMAN	FEZ family zinc finger 1	64					cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.S64Y(1)		breast(1)|large_intestine(3)|lung(18)|ovary(2)|prostate(1)	25						GAGATGCAGAGAGTGCTTGGG	0.632													35	94					1.36161e-19	1.77385e-19	1	1	0	T	121944301	G	T	121944301	3	4	81	1	0	0	0	0	1	0	0	0	5858	942	33	4	1252	4	FEZF1	7	121944301	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	245414	121944301	37194362	6358	9974											
CADPS2	93664	broad.mit.edu	37	7	122047655	122047655	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:122047655C>T	ENST00000334010.7	-	18	3100	c.2679G>A	c.(2677-2679)ccG>ccA	p.P893P	RP5-1101C3.1_ENST00000591140.1_RNA|RP5-1101C3.1_ENST00000593910.1_RNA|CADPS2_ENST00000412584.2_Silent_p.P889P|CADPS2_ENST00000313070.7_Silent_p.P889P|CADPS2_ENST00000449022.2_Silent_p.P895P	NM_001167940.1	NP_001161412.1	Q86UW7	CAPS2_HUMAN	Ca++-dependent secretion activator 2	895	Interaction with DRD2.|MHD1.				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						AGGAGTCTTGCGGTTGAGCCT	0.428													3	21					0	0	1	0	0	T	122047655	C	T	122047655	2	4	81	1	0	0	0	0	0	0	0	1	2589	755	27	1		1	CADPS2	7	122047655	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	103354	122047655	37091008	6359	9975											
CADPS2	93664	broad.mit.edu	37	7	122111440	122111440	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:122111440C>T	ENST00000334010.7	-	13	2599	c.2178G>A	c.(2176-2178)gtG>gtA	p.V726V	CADPS2_ENST00000412584.2_Silent_p.V722V|CADPS2_ENST00000313070.7_Silent_p.V722V|CADPS2_ENST00000449022.2_Silent_p.V725V	NM_001167940.1	NP_001161412.1	Q86UW7	CAPS2_HUMAN	Ca++-dependent secretion activator 2	725					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						TGTTGCCGTGCACATGAGAGG	0.423													5	33					0	0	1	0	0	T	122111440	C	T	122111440	2	4	81	1	0	0	0	0	0	0	0	1	2589	697	25	2		2	CADPS2	7	122111440	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	63785	122111440	37027223	6360	9976											
RNF148	378925	broad.mit.edu	37	7	122342350	122342350	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:122342350G>A	ENST00000434824.1	-	1	671	c.455C>T	c.(454-456)gCg>gTg	p.A152V	RNF148_ENST00000447240.1_Missense_Mutation_p.A54V|CADPS2_ENST00000334010.7_Intron|CADPS2_ENST00000412584.2_Intron|CADPS2_ENST00000313070.7_Intron|CADPS2_ENST00000449022.2_Intron	NM_198085.1	NP_932351.1	Q8N7C7	RN148_HUMAN	ring finger protein 148	152	PA.					integral to membrane	zinc ion binding			endometrium(2)|kidney(1)|large_intestine(6)|lung(7)	16						TATCATCACCGCGACTATATT	0.463													23	391					0	0	1	0	0	A	122342350	G	A	122342350	3	1	81	1	0	0	0	0	1	0	0	0	13501	1087	38	1	466	1	RNF148	7	122342350	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	230910	122342350	36796313	6361	9977											
CADPS2	93664	broad.mit.edu	37	7	122526096	122526096	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:122526096A>G	ENST00000334010.7	-	1	717	c.296T>C	c.(295-297)tTc>tCc	p.F99S	CADPS2_ENST00000412584.2_Missense_Mutation_p.F99S|CADPS2_ENST00000313070.7_Missense_Mutation_p.F99S|CADPS2_ENST00000449022.2_Missense_Mutation_p.F99S	NM_001167940.1	NP_001161412.1	Q86UW7	CAPS2_HUMAN	Ca++-dependent secretion activator 2	99					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						CTTGGCGTTGAAGGGGTACGC	0.662													6	21					0	0	1	0	0	G	122526096	A	G	122526096	3	3	81	1	0	0	0	0	1	0	0	0	2589	246	9	3	3758	3	CADPS2	7	122526096	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	183746	122526096	36612567	6362	9978											
SLC13A1	6561	broad.mit.edu	37	7	122811844	122811844	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:122811844T>A	ENST00000194130.2	-	3	382	c.343A>T	c.(343-345)Atg>Ttg	p.M115L	SLC13A1_ENST00000539873.1_Missense_Mutation_p.M51L	NM_022444.3	NP_071889.2	Q9BZW2	S13A1_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 1	115						integral to membrane|plasma membrane	sodium:sulfate symporter activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	45					Succinic acid(DB00139)	ACACCAACCATCATCACCATT	0.358													72	166					0	0	1	0	0	A	122811844	T	A	122811844	3	1	81	1	0	0	0	0	1	0	0	0	14446	1435	50	4	1496	4	SLC13A1	7	122811844	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	285748	122811844	36326819	6363	9979											
IQUB	154865	broad.mit.edu	37	7	123143079	123143079	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:123143079T>C	ENST00000466202.1	-	5	1362	c.786A>G	c.(784-786)ggA>ggG	p.G262G	IQUB_ENST00000324698.6_Silent_p.G262G|IQUB_ENST00000434450.1_Silent_p.G262G|IQUB_ENST00000488987.1_5'UTR	NM_001282855.1	NP_001269784.1	Q8NA54	IQUB_HUMAN	IQ motif and ubiquitin domain containing	262										breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)	45						GATACTCTACTCCTGTTACTT	0.383													8	167					0	0	1	0	0	C	123143079	T	C	123143079	2	2	81	1	0	0	0	0	0	0	0	1	7864	1538	54	3		3	IQUB	7	123143079	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	331235	123143079	35995584	6364	9980											
ASB15	142685	broad.mit.edu	37	7	123267271	123267271	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:123267271G>A	ENST00000451558.1	+	11	1326	c.805G>A	c.(805-807)Gga>Aga	p.G269R	ASB15_ENST00000434204.1_Missense_Mutation_p.G269R|ASB15_ENST00000275699.3_Missense_Mutation_p.G269R|ASB15_ENST00000540573.1_Missense_Mutation_p.G269R|ASB15_ENST00000451215.1_Missense_Mutation_p.G269R			Q8WXK1	ASB15_HUMAN	ankyrin repeat and SOCS box containing 15	269					intracellular signal transduction					breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3)	12						TGGAGGAAGCGGAAATGTACC	0.493													10	44					0	0	1	0	0	A	123267271	G	A	123267271	3	1	81	1	0	0	0	0	1	0	0	0	1018	1117	39	1	827	1	ASB15	7	123267271	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	124192	123267271	35871392	6365	9981											
LMOD2	442721	broad.mit.edu	37	7	123302331	123302331	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:123302331C>T	ENST00000458573.2	+	2	848	c.691C>T	c.(691-693)Cgc>Tgc	p.R231C	LMOD2_ENST00000456238.2_Intron	NM_207163.1	NP_997046.1	Q6P5Q4	LMOD2_HUMAN	leiomodin 2 (cardiac)	231						cytoskeleton	actin binding|tropomyosin binding										GACCCTTACCCGCTTTGCTGA	0.493													25	25					0	0	1	0	0	T	123302331	C	T	123302331	3	4	81	1	0	0	0	0	1	0	0	0	8898	652	23	1	697	1	LMOD2	7	123302331	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	35060	123302331	35836332	6366	9982											
WASL	8976	broad.mit.edu	37	7	123332603	123332603	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:123332603G>T	ENST00000223023.4	-	9	1477	c.1145C>A	c.(1144-1146)cCt>cAt	p.P382H		NM_003941.2	NP_003932.3	O00401	WASL_HUMAN	Wiskott-Aldrich syndrome-like	382	Pro-rich.				actin polymerization or depolymerization|axon guidance|cellular component movement|nitric oxide metabolic process|protein complex assembly|regulation of nitric-oxide synthase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	actin cytoskeleton|cytosol|nucleolus|plasma membrane	actin binding|small GTPase regulator activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TGGCCCAGGAGGAGGTGGAGG	0.617													26	68					1.75199e-13	2.20964e-13	1	1	0	T	123332603	G	T	123332603	3	4	81	1	0	0	0	0	1	0	0	0	17316	1000	35	4	384	4	WASL	7	123332603	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	30272	123332603	35806060	6367	9983											
WASL	8976	broad.mit.edu	37	7	123332912	123332912	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:123332912G>T	ENST00000223023.4	-	9	1168	c.836C>A	c.(835-837)cCt>cAt	p.P279H		NM_003941.2	NP_003932.3	O00401	WASL_HUMAN	Wiskott-Aldrich syndrome-like	279	Pro-rich.				actin polymerization or depolymerization|axon guidance|cellular component movement|nitric oxide metabolic process|protein complex assembly|regulation of nitric-oxide synthase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	actin cytoskeleton|cytosol|nucleolus|plasma membrane	actin binding|small GTPase regulator activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TGGTGGTGGAGGTGGTGGTGC	0.473													8	133					0.00448238	0.00470627	1	1	0	T	123332912	G	T	123332912	3	4	81	1	0	0	0	0	1	0	0	0	17316	1000	35	4	693	4	WASL	7	123332912	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	309	123332912	35805751	6368	9984											
GPR37	2861	broad.mit.edu	37	7	124404176	124404176	+	Silent	SNP	G	G	A	rs149674781	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:124404176G>A	ENST00000303921.2	-	1	1505	c.855C>T	c.(853-855)atC>atT	p.I285I		NM_005302.3	NP_005293.1	O15354	GPR37_HUMAN	G protein-coupled receptor 37 (endothelin receptor type B-like)	285						endoplasmic reticulum membrane|integral to plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						TGTGGCACACGATGCACATCA	0.572													4	55					0	0	1	0	0	A	124404176	G	A	124404176	2	1	81	1	0	0	0	0	0	0	0	1	6731	1048	37	1		1	GPR37	7	124404176	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1071264	124404176	34734487	6369	9985											
GPR37	2861	broad.mit.edu	37	7	124404931	124404931	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:124404931A>C	ENST00000303921.2	-	1	750	c.100T>G	c.(100-102)Tcc>Gcc	p.S34A		NM_005302.3	NP_005293.1	O15354	GPR37_HUMAN	G protein-coupled receptor 37 (endothelin receptor type B-like)	34						endoplasmic reticulum membrane|integral to plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						TCGTTTCTGGACGCAGGGGCG	0.642													12	9					0	0	1	0	0	C	124404931	A	C	124404931	3	2	81	1	0	0	0	0	1	0	0	0	6731	275	10	5	1749	5	GPR37	7	124404931	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	755	124404931	34733732	6370	9986											
POT1	25913	broad.mit.edu	37	7	124493083	124493083	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:124493083T>C	ENST00000357628.3	-	10	1410	c.812A>G	c.(811-813)tAc>tGc	p.Y271C	POT1_ENST00000393329.1_Missense_Mutation_p.Y140C	NM_015450.2	NP_056265.2	Q9NUX5	POTE1_HUMAN	protection of telomeres 1	271	DNA binding.				DNA duplex unwinding|negative regulation of telomere maintenance via telomerase|positive regulation of DNA strand elongation|positive regulation of helicase activity|positive regulation of telomerase activity|positive regulation of telomere maintenance via telomerase|telomere capping|telomere formation via telomerase|telomere maintenance via telomerase	nuclear telomere cap complex|nucleoplasm	DEAD/H-box RNA helicase binding|single-stranded telomeric DNA binding|telomerase inhibitor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47						TCCCCGACCGTAACTGGTACC	0.348													6	59					0	0	1	0	0	C	124493083	T	C	124493083	3	2	81	1	0	0	0	0	1	0	0	0	12308	1638	57	3	1132	3	POT1	7	124493083	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	88152	124493083	34645580	6371	9987											
POT1	25913	broad.mit.edu	37	7	124503570	124503570	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:124503570G>A	ENST00000357628.3	-	8	978	c.380C>T	c.(379-381)aCt>aTt	p.T127I	POT1_ENST00000393329.1_5'UTR	NM_015450.2	NP_056265.2	Q9NUX5	POTE1_HUMAN	protection of telomeres 1	127					DNA duplex unwinding|negative regulation of telomere maintenance via telomerase|positive regulation of DNA strand elongation|positive regulation of helicase activity|positive regulation of telomerase activity|positive regulation of telomere maintenance via telomerase|telomere capping|telomere formation via telomerase|telomere maintenance via telomerase	nuclear telomere cap complex|nucleoplasm	DEAD/H-box RNA helicase binding|single-stranded telomeric DNA binding|telomerase inhibitor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47						GTGGTCCTCAGTAGTGAAGTT	0.448													38	127					0	0	1	0	0	A	124503570	G	A	124503570	3	1	81	1	0	0	0	0	1	0	0	0	12308	1029	36	2	1572	2	POT1	7	124503570	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	10487	124503570	34635093	6372	9988											
GRM8	2918	broad.mit.edu	37	7	126173165	126173165	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:126173165G>T	ENST00000339582.2	-	9	3079	c.2271C>A	c.(2269-2271)atC>atA	p.I757I	GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000444921.2_Silent_p.I757I|GRM8_ENST00000358373.3_Silent_p.I757I			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	757					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	CCATCAAGAGGATACTGTATC	0.443										HNSCC(24;0.065)			12	29					1.08611e-07	1.27405e-07	1	1	0	T	126173165	G	T	126173165	2	4	81	1	0	0	0	0	0	0	0	1	6844	1164	41	5		5	GRM8	7	126173165	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1669595	126173165	32965498	6373	9989											
GRM8	2918	broad.mit.edu	37	7	126173388	126173388	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:126173388G>T	ENST00000339582.2	-	9	2856	c.2048C>A	c.(2047-2049)tCt>tAt	p.S683Y	GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000444921.2_Missense_Mutation_p.S683Y|GRM8_ENST00000358373.3_Missense_Mutation_p.S683Y			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	683					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	CGCTGTGACAGATTTCTTCCC	0.502										HNSCC(24;0.065)			27	52					6.38683e-12	7.95227e-12	1	1	0	T	126173388	G	T	126173388	3	4	81	1	0	0	0	0	1	0	0	0	6844	942	33	4	740	4	GRM8	7	126173388	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	223	126173388	32965275	6374	9990											
GCC1	79571	broad.mit.edu	37	7	127222701	127222701	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:127222701C>A	ENST00000321407.2	-	2	2119	c.1695G>T	c.(1693-1695)caG>caT	p.Q565H		NM_024523.5	NP_078799.2	Q96CN9	GCC1_HUMAN	GRIP and coiled-coil domain containing 1	565						Golgi membrane|plasma membrane	protein binding			breast(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						GCTCCAGCTCCTGCCGGTGGA	0.647													5	72					0.000602214	0.000646338	1	1	0	A	127222701	C	A	127222701	3	1	81	1	0	0	0	0	1	0	0	0	6325	680	24	4	636	4	GCC1	7	127222701	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1049313	127222701	31915962	6375	9991											
GCC1	79571	broad.mit.edu	37	7	127224742	127224742	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:127224742C>T	ENST00000321407.2	-	1	919	c.495G>A	c.(493-495)ttG>ttA	p.L165L	GCC1_ENST00000497650.1_Intron	NM_024523.5	NP_078799.2	Q96CN9	GCC1_HUMAN	GRIP and coiled-coil domain containing 1	165						Golgi membrane|plasma membrane	protein binding			breast(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						TCAAAGTAGCCAACTGAGTCT	0.522													30	78					0	0	1	0	0	T	127224742	C	T	127224742	2	4	81	1	0	0	0	0	0	0	0	1	6325	593	21	2		2	GCC1	7	127224742	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2041	127224742	31913921	6376	9992											
GCC1	79571	broad.mit.edu	37	7	127225066	127225066	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:127225066C>A	ENST00000321407.2	-	1	595	c.171G>T	c.(169-171)aaG>aaT	p.K57N	GCC1_ENST00000497650.1_Intron	NM_024523.5	NP_078799.2	Q96CN9	GCC1_HUMAN	GRIP and coiled-coil domain containing 1	57						Golgi membrane|plasma membrane	protein binding			breast(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						CCGACAGCACCTTGATGCTGG	0.567													24	94					2.44723e-14	3.10401e-14	1	1	0	A	127225066	C	A	127225066	3	1	81	1	0	0	0	0	1	0	0	0	6325	680	24	4	2164	4	GCC1	7	127225066	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	324	127225066	31913597	6377	9993											
PAX4	5078	broad.mit.edu	37	7	127252041	127252041	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:127252041C>T	ENST00000341640.2	-	7	910	c.705G>A	c.(703-705)ggG>ggA	p.G235G	PAX4_ENST00000378740.2_Silent_p.G235G|PAX4_ENST00000338516.3_Intron|PAX4_ENST00000463946.1_Silent_p.G233G	NM_006193.2	NP_006184.2	O43316	PAX4_HUMAN	paired box 4	243					cell differentiation|endocrine pancreas development|organ morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|kidney(2)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						GTACAGTCAGCCCCTGGGAAG	0.557													14	41					0	0	1	0	0	T	127252041	C	T	127252041	2	4	81	1	0	0	0	0	0	0	0	1	11528	726	26	2		2	PAX4	7	127252041	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	26975	127252041	31886622	6378	9994											
PAX4	5078	broad.mit.edu	37	7	127255455	127255455	+	Translation_Start_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:127255455C>A	ENST00000463946.1	-	0	269				PAX4_ENST00000378740.2_Splice_Site_p.K40N|PAX4_ENST00000341640.2_Splice_Site_p.K40N|PAX4_ENST00000338516.3_Splice_Site_p.K48N			O43316	PAX4_HUMAN	paired box 4						cell differentiation|endocrine pancreas development|organ morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|kidney(2)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						GGCCCATTACCTTAAGGATCC	0.592													26	66					1.26454e-06	1.45862e-06	1	1	0	A	127255455	C	A	127255455	1	1	81	1	0	0	0	0	0	0	0	0	11528	695	24	4		4	PAX4	7	127255455	Translation_Start_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3414	127255455	31883208	6379	9995											
SND1	27044	broad.mit.edu	37	7	127326801	127326801	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:127326801G>T	ENST00000354725.3	+	2	407	c.213G>T	c.(211-213)aaG>aaT	p.K71N		NM_014390.2	NP_055205.2	Q7KZF4	SND1_HUMAN	staphylococcal nuclease and tudor domain containing 1	71	TNase-like 1.				gene silencing by RNA|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	melanosome|nucleus|RNA-induced silencing complex	nuclease activity|nucleic acid binding|protein binding|transcription cofactor activity			central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	41						CTGATGCAAAGGATACCCCTG	0.557													17	69					7.21436e-19	9.37898e-19	1	1	0	T	127326801	G	T	127326801	3	4	81	1	0	0	0	0	1	0	0	0	14898	991	35	4	219	4	SND1	7	127326801	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	71346	127326801	31811862	6380	9996											
SND1	27044	broad.mit.edu	37	7	127342560	127342560	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:127342560G>T	ENST00000354725.3	+	6	855	c.661G>T	c.(661-663)Gtc>Ttc	p.V221F		NM_014390.2	NP_055205.2	Q7KZF4	SND1_HUMAN	staphylococcal nuclease and tudor domain containing 1	221	TNase-like 2.				gene silencing by RNA|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	melanosome|nucleus|RNA-induced silencing complex	nuclease activity|nucleic acid binding|protein binding|transcription cofactor activity			central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	41						CCTGGTTACAGTCATGCTGTC	0.512													11	109					3.86212e-05	4.27865e-05	1	1	0	T	127342560	G	T	127342560	3	4	81	1	0	0	0	0	1	0	0	0	14898	1029	36	4	683	4	SND1	7	127342560	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	15759	127342560	31796103	6381	9997											
SND1	27044	broad.mit.edu	37	7	127569379	127569379	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:127569379G>A	ENST00000354725.3	+	15	1860	c.1666G>A	c.(1666-1668)Gca>Aca	p.A556T		NM_014390.2	NP_055205.2	Q7KZF4	SND1_HUMAN	staphylococcal nuclease and tudor domain containing 1	556	TNase-like 4.				gene silencing by RNA|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	melanosome|nucleus|RNA-induced silencing complex	nuclease activity|nucleic acid binding|protein binding|transcription cofactor activity			central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	41						CTTCTTGCTTGCAGGTAAGTC	0.483													111	107					0	0	1	0	0	A	127569379	G	A	127569379	3	1	81	1	0	0	0	0	1	0	0	0	14898	1319	46	2	1724	2	SND1	7	127569379	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	226819	127569379	31569284	6382	9998											
RBM28	55131	broad.mit.edu	37	7	127965879	127965879	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:127965879C>A	ENST00000223073.2	-	11	1309	c.1195G>T	c.(1195-1197)Gag>Tag	p.E399*	RBM28_ENST00000415472.2_Nonsense_Mutation_p.E258*	NM_018077.2	NP_060547.2	Q9NW13	RBM28_HUMAN	RNA binding motif protein 28		RRM 3.				mRNA processing|RNA splicing	Golgi apparatus|nucleolus|spliceosomal complex	nucleotide binding|RNA binding			breast(1)|kidney(7)|large_intestine(3)|lung(8)|ovary(2)	21						ACCTCATTCTCTGGAGAAGCA	0.413													9	38					0.00621372	0.00649472	1	1	0	A	127965879	C	A	127965879	4	1	81	1	0	0	0	0	0	1	0	0	13180	922	32	4	1120	4	RBM28	7	127965879	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	396500	127965879	31172784	6383	9999											
IMPDH1	3614	broad.mit.edu	37	7	128038586	128038586	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:128038586G>T	ENST00000338791.6	-	10	1306	c.956C>A	c.(955-957)cCt>cAt	p.P319H	IMPDH1_ENST00000470772.1_Missense_Mutation_p.P233H|IMPDH1_ENST00000343214.4_Missense_Mutation_p.P209H|IMPDH1_ENST00000348127.6_Missense_Mutation_p.P283H|IMPDH1_ENST00000354269.5_Missense_Mutation_p.P309H|IMPDH1_ENST00000496200.1_Missense_Mutation_p.P209H|IMPDH1_ENST00000378717.4_Missense_Mutation_p.P250H|IMPDH1_ENST00000480861.1_Missense_Mutation_p.P229H|IMPDH1_ENST00000419067.2_Missense_Mutation_p.P286H	NM_000883.3	NP_000874.2	P20839	IMDH1_HUMAN	IMP (inosine 5'-monophosphate) dehydrogenase 1	234					GMP biosynthetic process|purine base metabolic process	cytosol|nucleus	DNA binding|IMP dehydrogenase activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)	22					Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|NADH(DB00157)|Ribavirin(DB00811)|Thioguanine(DB00352)	GGAGGCCAGAGGGTAGTCTCG	0.602											OREG0018292	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	124					0.000157383	0.000171784	1	1	0	T	128038586	G	T	128038586	3	4	81	1	0	0	0	0	1	0	0	0	7770	1000	35	4	875	4	IMPDH1	7	128038586	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	72707	128038586	31100077	6384	10000											
IMPDH1	3614	broad.mit.edu	37	7	128040230	128040230	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:128040230T>C	ENST00000338791.6	-	9	1143	c.793A>G	c.(793-795)Acg>Gcg	p.T265A	IMPDH1_ENST00000470772.1_Missense_Mutation_p.T179A|IMPDH1_ENST00000343214.4_Missense_Mutation_p.T155A|IMPDH1_ENST00000348127.6_Missense_Mutation_p.T229A|IMPDH1_ENST00000354269.5_Missense_Mutation_p.T255A|IMPDH1_ENST00000496200.1_Missense_Mutation_p.T155A|IMPDH1_ENST00000378717.4_Missense_Mutation_p.T196A|IMPDH1_ENST00000480861.1_Missense_Mutation_p.T175A|IMPDH1_ENST00000419067.2_Missense_Mutation_p.T232A	NM_000883.3	NP_000874.2	P20839	IMDH1_HUMAN	IMP (inosine 5'-monophosphate) dehydrogenase 1	180					GMP biosynthetic process|purine base metabolic process	cytosol|nucleus	DNA binding|IMP dehydrogenase activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)	22					Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|NADH(DB00157)|Ribavirin(DB00811)|Thioguanine(DB00352)	ATCCTTGGCGTCATCACCTGT	0.572													57	122					0	0	1	0	0	C	128040230	T	C	128040230	3	2	81	1	0	0	0	0	1	0	0	0	7770	1667	58	3	1042	3	IMPDH1	7	128040230	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	1644	128040230	31098433	6385	10001											
IMPDH1	3614	broad.mit.edu	37	7	128049358	128049358	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:128049358C>T	ENST00000338791.6	-	3	589	c.239G>A	c.(238-240)cGc>cAc	p.R80H	IMPDH1_ENST00000343214.4_Intron|IMPDH1_ENST00000348127.6_Intron|IMPDH1_ENST00000354269.5_Missense_Mutation_p.R70H|IMPDH1_ENST00000378717.4_Intron|IMPDH1_ENST00000419067.2_Missense_Mutation_p.R80H	NM_000883.3	NP_000874.2	P20839	IMDH1_HUMAN	IMP (inosine 5'-monophosphate) dehydrogenase 1	0					GMP biosynthetic process|purine base metabolic process	cytosol|nucleus	DNA binding|IMP dehydrogenase activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)	22					Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|NADH(DB00157)|Ribavirin(DB00811)|Thioguanine(DB00352)	CCTGCGAAGGCGATCCATCTG	0.562													11	23					0	0	1	0	0	T	128049358	C	T	128049358	3	4	81	1	0	0	0	0	1	0	0	0	7770	768	27	1	1620	1	IMPDH1	7	128049358	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	9128	128049358	31089305	6386	10002											
METTL2B	55798	broad.mit.edu	37	7	128119311	128119311	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:128119311C>A	ENST00000480046.1	+	2	222	c.107C>A	c.(106-108)cCt>cAt	p.P36H	RP11-212P7.3_ENST00000462662.1_RNA|METTL2B_ENST00000262432.8_Missense_Mutation_p.P101H			Q6P1Q9	MTL2B_HUMAN	methyltransferase like 2B	101							methyltransferase activity			breast(1)|cervix(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						ACCGAATTCCCTGAGCTGGCA	0.393													9	80					7.48243e-07	8.64403e-07	1	1	0	A	128119311	C	A	128119311	3	1	81	1	0	0	0	0	1	0	0	0	9550	681	24	4	312	4	METTL2B	7	128119311	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	69953	128119311	31019352	6387	10003											
METTL2B	55798	broad.mit.edu	37	7	128119556	128119556	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:128119556C>T	ENST00000480046.1	+	2	467	c.352C>T	c.(352-354)Cga>Tga	p.R118*	METTL2B_ENST00000473488.1_3'UTR|RP11-212P7.3_ENST00000462662.1_RNA|METTL2B_ENST00000262432.8_Nonsense_Mutation_p.R183*			Q6P1Q9	MTL2B_HUMAN	methyltransferase like 2B	183							methyltransferase activity			breast(1)|cervix(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						AGCCACCTACCGAATACTGGA	0.408													5	73					0	0	1	0	0	T	128119556	C	T	128119556	4	4	81	1	0	0	0	0	0	1	0	0	9550	644	23	1	557	1	METTL2B	7	128119556	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	245	128119556	31019107	6388	10004											
METTL2B	55798	broad.mit.edu	37	7	128141876	128141876	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:128141876G>A	ENST00000480046.1	+	8	963	c.848G>A	c.(847-849)cGc>cAc	p.R283H	METTL2B_ENST00000262432.8_Missense_Mutation_p.R348H			Q6P1Q9	MTL2B_HUMAN	methyltransferase like 2B	348							methyltransferase activity			breast(1)|cervix(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						CTGGTGGACCGCCGACTGCAG	0.493													92	59					0	0	1	0	0	A	128141876	G	A	128141876	3	1	81	1	0	0	0	0	1	0	0	0	9550	1087	38	1	1077	1	METTL2B	7	128141876	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	22320	128141876	30996787	6389	10005											
CALU	813	broad.mit.edu	37	7	128394464	128394464	+	Missense_Mutation	SNP	G	G	A	rs147388270		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:128394464G>A	ENST00000535623.1	+	4	1337	c.394G>A	c.(394-396)Gtt>Att	p.V132I	CALU_ENST00000535011.2_Missense_Mutation_p.V124I|CALU_ENST00000479257.1_Missense_Mutation_p.V132I|CALU_ENST00000449187.2_Intron|CALU_ENST00000542996.2_Intron|CALU_ENST00000538546.1_Intron|CALU_ENST00000249364.4_Missense_Mutation_p.V124I	NM_001199671.1	NP_001186600.1	O43852	CALU_HUMAN	calumenin	124	EF-hand 2.				platelet activation|platelet degranulation	extracellular region|Golgi apparatus|melanosome|sarcoplasmic reticulum lumen	calcium ion binding|protein binding			kidney(2)|large_intestine(3)|lung(5)	10						GGACGGCCTCGTTTCCTGGGA	0.502													20	17					0	0	1	0	0	A	128394464	G	A	128394464	3	1	81	1	0	0	0	0	1	0	0	0	2612	1145	40	1	376	1	CALU	7	128394464	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	252588	128394464	30744199	6390	10006											
CALU	813	broad.mit.edu	37	7	128409143	128409143	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:128409143C>T	ENST00000535011.2	+	6	822	c.670C>T	c.(670-672)Cgt>Tgt	p.R224C	CALU_ENST00000479257.1_Silent_p.I298I|CALU_ENST00000449187.2_Silent_p.I290I|CALU_ENST00000542996.2_Silent_p.I298I|CALU_ENST00000535623.1_3'UTR|CALU_ENST00000538546.1_Silent_p.I139I|CALU_ENST00000249364.4_Silent_p.I290I	NM_001199673.1	NP_001186602.1	O43852	CALU_HUMAN	calumenin	0					platelet activation|platelet degranulation	extracellular region|Golgi apparatus|melanosome|sarcoplasmic reticulum lumen	calcium ion binding|protein binding			kidney(2)|large_intestine(3)|lung(5)	10						AGGAGGAGATCGTTGACAAGT	0.423													8	36					0	0	1	0	0	T	128409143	C	T	128409143	3	4	81	1	0	0	0	0	1	0	0	0	2612	874	31	1	1090	1	CALU	7	128409143	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	14679	128409143	30729520	6391	10007											
OPN1SW	611	broad.mit.edu	37	7	128413872	128413872	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:128413872A>G	ENST00000249389.2	-	4	757	c.758T>C	c.(757-759)gTg>gCg	p.V253A		NM_001708.2	NP_001699.1	P03999	OPSB_HUMAN	opsin 1 (cone pigments), short-wave-sensitive	253					phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity			NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|stomach(1)	19						TCCTACCATCACAACCACCAT	0.577													9	29					0	0	1	0	0	G	128413872	A	G	128413872	3	3	81	1	0	0	0	0	1	0	0	0	10928	159	6	3	296	3	OPN1SW	7	128413872	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	4729	128413872	30724791	6392	10008											
CCDC136	64753	broad.mit.edu	37	7	128441482	128441482	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:128441482G>A	ENST00000297788.4	+	4	956	c.589G>A	c.(589-591)Gcc>Acc	p.A197T	CCDC136_ENST00000487361.1_Missense_Mutation_p.A197T|CCDC136_ENST00000464832.1_Missense_Mutation_p.A247T|CCDC136_ENST00000378685.4_Missense_Mutation_p.A247T	NM_022742.4	NP_073579	Q96JN2	CC136_HUMAN	coiled-coil domain containing 136	197	Glu-rich.					integral to membrane	protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)	24						GATGGAGATCGCCTCCCTCCG	0.488													12	14					0	0	1	0	0	A	128441482	G	A	128441482	3	1	81	1	0	0	0	0	1	0	0	0	2788	1087	38	1	603	1	CCDC136	7	128441482	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	27610	128441482	30697181	6393	10009											
FLNC	2318	broad.mit.edu	37	7	128470777	128470777	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:128470777C>T	ENST00000325888.8	+	1	347	c.86C>T	c.(85-87)gCg>gTg	p.A29V	FLNC_ENST00000346177.6_Missense_Mutation_p.A29V	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	29	Actin-binding.				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						AAGGACCTGGCGGAGGACGCG	0.647													5	33					0	0	1	0	0	T	128470777	C	T	128470777	3	4	81	1	0	0	0	0	1	0	0	0	5968	768	27	1	88	1	FLNC	7	128470777	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	29295	128470777	30667886	6394	10010											
FLNC	2318	broad.mit.edu	37	7	128488685	128488685	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:128488685G>A	ENST00000325888.8	+	27	4912	c.4651G>A	c.(4651-4653)Gcc>Acc	p.A1551T	FLNC_ENST00000346177.6_Missense_Mutation_p.A1551T	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	1551					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						AGGCCTCAACGCCTCTGGCAT	0.622													21	114					0	0	1	0	0	A	128488685	G	A	128488685	3	1	81	1	0	0	0	0	1	0	0	0	5968	1087	38	1	4757	1	FLNC	7	128488685	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	17908	128488685	30649978	6395	10011											
FLNC	2318	broad.mit.edu	37	7	128496579	128496579	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:128496579G>T	ENST00000325888.8	+	44	7520	c.7259G>T	c.(7258-7260)gGg>gTg	p.G2420V	FLNC_ENST00000346177.6_Missense_Mutation_p.G2387V|RP11-309L24.2_ENST00000469965.1_RNA	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	2420	Interaction with INPPL1.				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						CAGGAGACGGGGCTCAAGGTG	0.657													21	94					9.57634e-11	1.17731e-10	1	1	0	T	128496579	G	T	128496579	3	4	81	1	0	0	0	0	1	0	0	0	5968	1232	43	5	7433	5	FLNC	7	128496579	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	7894	128496579	30642084	6396	10012											
IRF5	3663	broad.mit.edu	37	7	128588072	128588072	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:128588072G>T	ENST00000402030.2	+	7	1101	c.1029G>T	c.(1027-1029)aaG>aaT	p.K343N	IRF5_ENST00000477535.1_Missense_Mutation_p.K257N|IRF5_ENST00000473745.1_Missense_Mutation_p.K343N|IRF5_ENST00000249375.4_Missense_Mutation_p.K343N|IRF5_ENST00000357234.5_Missense_Mutation_p.K359N	NM_001098629.1|NM_001098630.1	NP_001092099.1|NP_001092100.1	Q13568	IRF5_HUMAN	interferon regulatory factor 5	343					interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(1)|prostate(1)	15						GTCAGTGCAAGGTGTTCTGGA	0.592													5	118					0.014758	0.0152304	1	1	0	T	128588072	G	T	128588072	3	4	81	1	0	0	0	0	1	0	0	0	7877	991	35	4	1099	4	IRF5	7	128588072	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	91493	128588072	30550591	6397	10013											
TNPO3	23534	broad.mit.edu	37	7	128641137	128641137	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:128641137G>A	ENST00000393245.1	-	6	1221	c.848C>T	c.(847-849)gCc>gTc	p.A283V	TNPO3_ENST00000265388.5_Missense_Mutation_p.A283V|TNPO3_ENST00000471166.1_Missense_Mutation_p.A283V|TNPO3_ENST00000471234.1_Missense_Mutation_p.A283V|TNPO3_ENST00000482320.1_Missense_Mutation_p.A217V	NM_012470.3	NP_036602.1	Q9Y5L0	TNPO3_HUMAN	transportin 3	283					splicing factor protein import into nucleus	cytoplasm|nucleus	protein binding|receptor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(3)	22						ACGTGCCACGGCCATATGATA	0.428													44	105					0	0	1	0	0	A	128641137	G	A	128641137	3	1	81	1	0	0	0	0	1	0	0	0	16397	1203	42	2	1991	2	TNPO3	7	128641137	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	53065	128641137	30497526	6398	10014											
TNPO3	23534	broad.mit.edu	37	7	128641247	128641247	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:128641247C>T	ENST00000393245.1	-	6	1111	c.738G>A	c.(736-738)tcG>tcA	p.S246S	TNPO3_ENST00000265388.5_Silent_p.S246S|TNPO3_ENST00000471166.1_Silent_p.S246S|TNPO3_ENST00000471234.1_Silent_p.S246S|TNPO3_ENST00000482320.1_Silent_p.S180S	NM_012470.3	NP_036602.1	Q9Y5L0	TNPO3_HUMAN	transportin 3	246					splicing factor protein import into nucleus	cytoplasm|nucleus	protein binding|receptor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(3)	22						ATACACAGTCCGAAGCAGCTT	0.473													62	170					0	0	1	0	0	T	128641247	C	T	128641247	2	4	81	1	0	0	0	0	0	0	0	1	16397	639	23	1		1	TNPO3	7	128641247	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	110	128641247	30497416	6399	10015											
SMO	6608	broad.mit.edu	37	7	128845485	128845485	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:128845485G>A	ENST00000249373.3	+	4	1062	c.782G>A	c.(781-783)cGc>cAc	p.R261H		NM_005631.4	NP_005622.1	Q99835	SMO_HUMAN	smoothened, frizzled family receptor	261					adenohypophysis development|axon extension involved in axon guidance|canonical Wnt receptor signaling pathway|cardioblast differentiation|central nervous system neuron differentiation|cerebellar cortex morphogenesis|ciliary receptor clustering involved in smoothened signaling pathway|determination of left/right symmetry|dorsal/ventral neural tube patterning|embryonic camera-type eye development|embryonic digestive tract morphogenesis|embryonic neurocranium morphogenesis|embryonic viscerocranium morphogenesis|exocrine pancreas development|facial nerve development|floor plate formation|gonad development|heart morphogenesis|muscle cell fate commitment|negative regulation of apoptosis|neural crest cell migration|neuron fate commitment|neuron projection regeneration|odontogenesis of dentine-containing tooth|osteoblast differentiation|otolith morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of neuroblast proliferation|positive regulation of smoothened signaling pathway|semicircular canal morphogenesis|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation|smoothened signaling pathway involved in ventral spinal cord patterning|spermatogenesis|vasculogenesis	cilium|cytoplasm|integral to membrane|neuronal cell body|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			biliary_tract(1)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(14)|liver(1)|lung(11)|pancreas(2)|prostate(1)|skin(20)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						AACTCGAATCGCTACCCTGCT	0.537			Mis		skin basal cell								25	96					0	0	1	0	0	A	128845485	G	A	128845485	3	1	81	1	0	0	0	0	1	0	0	0	14854	1087	38	1	796	1	SMO	7	128845485	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	204238	128845485	30293178	6400	10016											
SMO	6608	broad.mit.edu	37	7	128846053	128846053	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:128846053G>A	ENST00000249373.3	+	5	1263	c.983G>A	c.(982-984)gGt>gAt	p.G328D		NM_005631.4	NP_005622.1	Q99835	SMO_HUMAN	smoothened, frizzled family receptor	328					adenohypophysis development|axon extension involved in axon guidance|canonical Wnt receptor signaling pathway|cardioblast differentiation|central nervous system neuron differentiation|cerebellar cortex morphogenesis|ciliary receptor clustering involved in smoothened signaling pathway|determination of left/right symmetry|dorsal/ventral neural tube patterning|embryonic camera-type eye development|embryonic digestive tract morphogenesis|embryonic neurocranium morphogenesis|embryonic viscerocranium morphogenesis|exocrine pancreas development|facial nerve development|floor plate formation|gonad development|heart morphogenesis|muscle cell fate commitment|negative regulation of apoptosis|neural crest cell migration|neuron fate commitment|neuron projection regeneration|odontogenesis of dentine-containing tooth|osteoblast differentiation|otolith morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of neuroblast proliferation|positive regulation of smoothened signaling pathway|semicircular canal morphogenesis|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation|smoothened signaling pathway involved in ventral spinal cord patterning|spermatogenesis|vasculogenesis	cilium|cytoplasm|integral to membrane|neuronal cell body|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			biliary_tract(1)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(14)|liver(1)|lung(11)|pancreas(2)|prostate(1)|skin(20)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						CTGATGGCTGGTGTGGTTTGG	0.557			Mis		skin basal cell								133	92					0	0	1	0	0	A	128846053	G	A	128846053	3	1	81	1	0	0	0	0	1	0	0	0	14854	1261	44	2	1001	2	SMO	7	128846053	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	568	128846053	30292610	6401	10017											
NRF1	4899	broad.mit.edu	37	7	129357079	129357079	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:129357079G>A	ENST00000393232.1	+	9	1203	c.1086G>A	c.(1084-1086)acG>acA	p.T362T	NRF1_ENST00000393231.3_Silent_p.T362T|NRF1_ENST00000393230.2_Silent_p.T362T|NRF1_ENST00000311967.2_Silent_p.T362T|NRF1_ENST00000539636.1_Silent_p.T201T|NRF1_ENST00000353868.4_Silent_p.T296T|NRF1_ENST00000223190.4_Silent_p.T362T	NM_005011.3	NP_005002.3	Q16656	NRF1_HUMAN	nuclear respiratory factor 1	362	Required for transcriptional activation.				generation of precursor metabolites and energy|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding			breast(2)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	24						ATTGGGCCACGTTACAGGGAG	0.473													9	46					0	0	1	0	0	A	129357079	G	A	129357079	2	1	81	1	0	0	0	0	0	0	0	1	10694	1132	40	1		1	NRF1	7	129357079	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	511026	129357079	29781584	6402	10018											
UBE2H	7328	broad.mit.edu	37	7	129474840	129474840	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:129474840G>A	ENST00000355621.3	-	7	882	c.489C>T	c.(487-489)gaC>gaT	p.D163D	UBE2H_ENST00000473814.2_Silent_p.D132D	NM_001202498.1|NM_003344.3	NP_001189427.1|NP_003335.1	P62256	UBE2H_HUMAN	ubiquitin-conjugating enzyme E2H	163					protein K11-linked ubiquitination|protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process		ATP binding|ubiquitin-protein ligase activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|skin(1)	10	Melanoma(18;0.0435)					CCGATGAGCTGTCCCCGGTAC	0.498													10	75					0	0	1	0	0	A	129474840	G	A	129474840	2	1	81	1	0	0	0	0	0	0	0	1	16919	1368	48	2		2	UBE2H	7	129474840	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	117761	129474840	29663823	6403	10019											
TMEM209	84928	broad.mit.edu	37	7	129841754	129841754	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:129841754G>A	ENST00000397622.2	-	5	631	c.509C>T	c.(508-510)tCc>tTc	p.S170F	TMEM209_ENST00000473456.1_Missense_Mutation_p.S170F|TMEM209_ENST00000336804.8_Missense_Mutation_p.S169F|TMEM209_ENST00000462753.1_Missense_Mutation_p.S169F|RP11-775D22.3_ENST00000483283.1_RNA	NM_032842.3	NP_116231.2	Q96SK2	TM209_HUMAN	transmembrane protein 209	170	Ser-rich.					integral to membrane				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	12	Melanoma(18;0.0435)					GCCACCTGAGGACAGACCTTG	0.493													11	38					0	0	1	0	0	A	129841754	G	A	129841754	3	1	81	1	0	0	0	0	1	0	0	0	16194	1174	41	2	1220	2	TMEM209	7	129841754	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	366914	129841754	29296909	6404	10020											
CPA2	1358	broad.mit.edu	37	7	129909568	129909568	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:129909568C>T	ENST00000222481.4	+	3	268	c.213C>T	c.(211-213)ttC>ttT	p.F71F		NM_001869.2	NP_001860.2	P48052	CBPA2_HUMAN	carboxypeptidase A2 (pancreatic)	71					proteolysis|vacuolar protein catabolic process	extracellular region|vacuole	metallocarboxypeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Melanoma(18;0.0435)					GAGTTCCCTTCGTCAACGTCC	0.502													7	79					0	0	1	0	0	T	129909568	C	T	129909568	2	4	81	1	0	0	0	0	0	0	0	1	3813	883	31	1		1	CPA2	7	129909568	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	67814	129909568	29229095	6405	10021											
CPA2	1358	broad.mit.edu	37	7	129915044	129915044	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:129915044G>A	ENST00000222481.4	+	6	597	c.542G>A	c.(541-543)cGa>cAa	p.R181Q		NM_001869.2	NP_001860.2	P48052	CBPA2_HUMAN	carboxypeptidase A2 (pancreatic)	181	Substrate binding (By similarity).				proteolysis|vacuolar protein catabolic process	extracellular region|vacuole	metallocarboxypeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Melanoma(18;0.0435)					ATCCATGCTCGAGAGTGGGTT	0.517													4	64					0	0	1	0	0	A	129915044	G	A	129915044	3	1	81	1	0	0	0	0	1	0	0	0	3813	1058	37	1	564	1	CPA2	7	129915044	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	5476	129915044	29223619	6406	10022											
CPA5	93979	broad.mit.edu	37	7	130007766	130007766	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:130007766C>T	ENST00000485477.1	+	11	2187	c.1058C>T	c.(1057-1059)gCg>gTg	p.A353V	CPA5_ENST00000474905.1_Missense_Mutation_p.A353V|CPA5_ENST00000466363.2_Missense_Mutation_p.A353V|CPA5_ENST00000461828.1_Missense_Mutation_p.A353V|CPA5_ENST00000431780.2_Intron|CPA5_ENST00000393213.3_Missense_Mutation_p.A353V|CPA5_ENST00000355388.3_Missense_Mutation_p.A353V			Q8WXQ8	CBPA5_HUMAN	carboxypeptidase A5	353					proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			NS(2)|breast(2)|endometrium(2)|large_intestine(7)|lung(4)|ovary(3)|pancreas(1)|skin(2)	23	Melanoma(18;0.0435)					GCCAAGGATGCGGTGGAGGCC	0.602													31	26					0	0	1	0	0	T	130007766	C	T	130007766	3	4	81	1	0	0	0	0	1	0	0	0	3816	768	27	1	1096	1	CPA5	7	130007766	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	92722	130007766	29130897	6407	10023											
CPA1	1357	broad.mit.edu	37	7	130020367	130020367	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:130020367G>A	ENST00000011292.3	+	1	156	c.6G>A	c.(4-6)cgG>cgA	p.R2R		NM_001868.2	NP_001859.1	P15085	CBPA1_HUMAN	carboxypeptidase A1 (pancreatic)	2					proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)	21	Melanoma(18;0.0435)					GCAGCATGCGGGGGTTGCTGG	0.632													47	41					0	0	1	0	0	A	130020367	G	A	130020367	2	1	81	1	0	0	0	0	0	0	0	1	3812	1219	43	2		2	CPA1	7	130020367	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	12601	130020367	29118296	6408	10024											
CPA1	1357	broad.mit.edu	37	7	130023239	130023240	+	Frame_Shift_Ins	INS	-	-	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:130023239_130023240insG	ENST00000011292.3	+	5	641_642	c.491_492insG	c.(490-495)acggggfs	p.TG164fs	CPA1_ENST00000484324.1_Frame_Shift_Ins_p.TG76fs	NM_001868.2	NP_001859.1	P15085	CBPA1_HUMAN	carboxypeptidase A1 (pancreatic)	164					proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)	21	Melanoma(18;0.0435)					CAGTTCAGCACGGGGGGCAGTA	0.614													12	44	---	---	---	---						G	130023240	-	G	130023239	7	5	81	1	0	1	1	0	0	0	0	0	3812	536	19	0	509	0	CPA1	7	130023239	Frame_Shift_Ins	INS	-	TCGA-DU-6392-01A-11D-1705-08	2872	130023239	29115424	6409	10025											
TSGA13	114960	broad.mit.edu	37	7	130364093	130364093	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:130364093A>G	ENST00000456951.1	-	6	1138	c.287T>C	c.(286-288)tTa>tCa	p.L96S	TSGA13_ENST00000356588.3_Missense_Mutation_p.L96S			Q96PP4	TSG13_HUMAN	testis specific, 13	96										endometrium(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	18	Melanoma(18;0.0435)					CATAATCAGTAACGTCTTATC	0.443													23	84					0	0	1	0	0	G	130364093	A	G	130364093	3	3	81	1	0	0	0	0	1	0	0	0	16680	372	13	3	556	3	TSGA13	7	130364093	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	340854	130364093	28774570	6410	10026											
MKLN1	4289	broad.mit.edu	37	7	131073706	131073706	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:131073706G>A	ENST00000352689.6	+	4	415	c.375G>A	c.(373-375)atG>atA	p.M125I	MKLN1_ENST00000421797.2_Missense_Mutation_p.M33I|MKLN1_ENST00000429546.1_Missense_Mutation_p.M33I	NM_013255.4	NP_037387.2	Q9UL63	MKLN1_HUMAN	muskelin 1, intracellular mediator containing kelch motifs	125					signal transduction	cytoplasm	protein binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	28	Melanoma(18;0.162)					ATGAACAGATGTTCCCTTGTC	0.313													4	45					0	0	1	0	0	A	131073706	G	A	131073706	3	1	81	1	0	0	0	0	1	0	0	0	9651	1377	48	2	422	2	MKLN1	7	131073706	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	709613	131073706	28064957	6411	10027											
PODXL	5420	broad.mit.edu	37	7	131196042	131196042	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:131196042C>T	ENST00000541194.1	-	2	514	c.257G>A	c.(256-258)gGt>gAt	p.G86D	PODXL_ENST00000465001.1_5'UTR|PODXL_ENST00000537928.1_Missense_Mutation_p.G84D|PODXL_ENST00000322985.9_Missense_Mutation_p.G84D|PODXL_ENST00000378555.3_Missense_Mutation_p.G84D	NM_001018111.2	NP_001018121.1	O00592	PODXL_HUMAN	podocalyxin-like	84	Thr-rich.				cell adhesion|epithelial tube formation|negative regulation of cell-cell adhesion|positive regulation of cell migration|positive regulation of cell-cell adhesion mediated by integrin|regulation of microvillus assembly	actin cytoskeleton|apical plasma membrane|centrosome|filopodium|integral to plasma membrane|lamellipodium|membrane raft|microvillus membrane|nucleolus|ruffle				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Melanoma(18;0.162)					ACTGGATACACCAAGGGTGGT	0.582													35	72					0	0	1	0	0	T	131196042	C	T	131196042	3	4	81	1	0	0	0	0	1	0	0	0	12228	507	18	2	1457	2	PODXL	7	131196042	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	122336	131196042	27942621	6412	10028											
PLXNA4	91584	broad.mit.edu	37	7	131817900	131817900	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:131817900G>T	ENST00000359827.3	-	31	6459	c.5497C>A	c.(5497-5499)Ctg>Atg	p.L1833M	PLXNA4_ENST00000321063.4_Missense_Mutation_p.L1833M			Q9HCM2	PLXA4_HUMAN	plexin A4	1833						integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						TGCTCAGCCAGGTATGCGTTC	0.498													5	98					0.000602214	0.000646338	1	1	0	T	131817900	G	T	131817900	3	4	81	1	0	0	0	0	1	0	0	0	12170	991	35	4	195	4	PLXNA4	7	131817900	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	621858	131817900	27320763	6413	10029											
PLXNA4	91584	broad.mit.edu	37	7	131831449	131831449	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:131831449G>A	ENST00000359827.3	-	28	5837	c.4875C>T	c.(4873-4875)atC>atT	p.I1625I	PLXNA4_ENST00000321063.4_Silent_p.I1625I			Q9HCM2	PLXA4_HUMAN	plexin A4	1625						integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						CCGTGTACCGGATCATGTTTT	0.577													44	104					0	0	1	0	0	A	131831449	G	A	131831449	2	1	81	1	0	0	0	0	0	0	0	1	12170	1164	41	2		2	PLXNA4	7	131831449	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	13549	131831449	27307214	6414	10030											
PLXNA4	91584	broad.mit.edu	37	7	131859595	131859595	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:131859595T>C	ENST00000359827.3	-	21	4921	c.3959A>G	c.(3958-3960)tAc>tGc	p.Y1320C	PLXNA4_ENST00000321063.4_Missense_Mutation_p.Y1320C			Q9HCM2	PLXA4_HUMAN	plexin A4	1320						integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						CCGCATGGTGTAAGTTCTATA	0.577													37	122					0	0	1	0	0	C	131859595	T	C	131859595	3	2	81	1	0	0	0	0	1	0	0	0	12170	1638	57	3	1773	3	PLXNA4	7	131859595	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	28146	131859595	27279068	6415	10031											
PLXNA4	91584	broad.mit.edu	37	7	131887409	131887409	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:131887409G>A	ENST00000359827.3	-	12	3544	c.2582C>T	c.(2581-2583)aCa>aTa	p.T861I	PLXNA4_ENST00000321063.4_Missense_Mutation_p.T861I			Q9HCM2	PLXA4_HUMAN	plexin A4	861	IPT/TIG 1.					integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						GCTTACCTCTGTGATGCGGGG	0.662													35	27					0	0	1	0	0	A	131887409	G	A	131887409	3	1	81	1	0	0	0	0	1	0	0	0	12170	1377	48	2	3186	2	PLXNA4	7	131887409	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	27814	131887409	27251254	6416	10032											
PLXNA4	91584	broad.mit.edu	37	7	132192525	132192525	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:132192525G>A	ENST00000359827.3	-	2	1890	c.928C>T	c.(928-930)Ctg>Ttg	p.L310L	PLXNA4_ENST00000423507.2_Silent_p.L310L|PLXNA4_ENST00000378539.5_Silent_p.L310L|PLXNA4_ENST00000321063.4_Silent_p.L310L			Q9HCM2	PLXA4_HUMAN	plexin A4	310	Sema.					integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						GCAGCCTGCAGCAGGCGGTAC	0.592													15	29					0	0	1	0	0	A	132192525	G	A	132192525	2	1	81	1	0	0	0	0	0	0	0	1	12170	962	34	2		2	PLXNA4	7	132192525	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	305116	132192525	26946138	6417	10033											
EXOC4	60412	broad.mit.edu	37	7	133749118	133749118	+	Missense_Mutation	SNP	C	C	T	rs149542788	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:133749118C>T	ENST00000253861.4	+	18	2791	c.2762C>T	c.(2761-2763)aCg>aTg	p.T921M	EXOC4_ENST00000545148.1_Missense_Mutation_p.T531M|EXOC4_ENST00000541309.1_Missense_Mutation_p.T209M|EXOC4_ENST00000539845.1_Missense_Mutation_p.T820M	NM_021807.3	NP_068579.3	Q96A65	EXOC4_HUMAN	exocyst complex component 4	921					vesicle docking involved in exocytosis	exocyst	protein N-terminus binding			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	50		Esophageal squamous(399;0.129)				GTGAAGTACACGGAGCTGGAG	0.572													14	31					0	0	1	0	0	T	133749118	C	T	133749118	3	4	81	1	0	0	0	0	1	0	0	0	5333	536	19	1	2841	1	EXOC4	7	133749118	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1556593	133749118	25389545	6418	10034											
LRGUK	136332	broad.mit.edu	37	7	133812281	133812281	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:133812281C>A	ENST00000285928.2	+	1	230	c.161C>A	c.(160-162)tCt>tAt	p.S54Y	LRGUK_ENST00000473068.1_3'UTR	NM_144648.1	NP_653249.1	Q96M69	LRGUK_HUMAN	leucine-rich repeats and guanylate kinase domain containing	54							ATP binding|kinase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	49						AAAGGCAGCTCTAACATAGCC	0.597													8	87					0.0381472	0.0389402	1	1	0	A	133812281	C	A	133812281	3	1	81	1	0	0	0	0	1	0	0	0	8988	913	32	4	163	4	LRGUK	7	133812281	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	63163	133812281	25326382	6419	10035											
LRGUK	136332	broad.mit.edu	37	7	133881836	133881836	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:133881836C>T	ENST00000285928.2	+	13	1593	c.1524C>T	c.(1522-1524)agC>agT	p.S508S		NM_144648.1	NP_653249.1	Q96M69	LRGUK_HUMAN	leucine-rich repeats and guanylate kinase domain containing	508	Guanylate kinase-like.						ATP binding|kinase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	49						GTTTGGCAAGCTGTATTCATA	0.373													50	59					0	0	1	0	0	T	133881836	C	T	133881836	2	4	81	1	0	0	0	0	0	0	0	1	8988	796	28	2		2	LRGUK	7	133881836	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	69555	133881836	25256827	6420	10036											
AKR1B10	57016	broad.mit.edu	37	7	134217814	134217814	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:134217814C>T	ENST00000359579.4	+	4	730	c.410C>T	c.(409-411)aCg>aTg	p.T137M	AKR1B10_ENST00000475559.1_3'UTR	NM_020299.4	NP_064695.3	O60218	AK1BA_HUMAN	aldo-keto reductase family 1, member B10 (aldose reductase)	137					cellular aldehyde metabolic process|digestion|steroid metabolic process	cytoplasm	aldo-keto reductase (NADP) activity|protein binding			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(9)|skin(5)	20						GGAAAAGCAACGTTCTTGGAT	0.463													45	135					0	0	1	0	0	T	134217814	C	T	134217814	3	4	81	1	0	0	0	0	1	0	0	0	464	536	19	1	424	1	AKR1B10	7	134217814	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	335978	134217814	24920849	6421	10037											
CALD1	800	broad.mit.edu	37	7	134618793	134618793	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:134618793G>T	ENST00000361675.2	+	5	1502	c.1273G>T	c.(1273-1275)Gaa>Taa	p.E425*	CALD1_ENST00000361901.2_Intron|CALD1_ENST00000361388.2_Intron|CALD1_ENST00000422748.1_Intron|CALD1_ENST00000393118.2_Intron|CALD1_ENST00000417172.1_Intron|CALD1_ENST00000424922.1_Intron|CALD1_ENST00000495522.1_Intron|CALD1_ENST00000543443.1_Intron			Q05682	CALD1_HUMAN	caldesmon 1	425					cellular component movement|muscle contraction	cytosol|focal adhesion|myofibril	actin binding|calmodulin binding|myosin binding|tropomyosin binding			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(15)|lung(10)	43						GAAAGCACAAGAAGATAAACT	0.373													25	125					1.42536e-11	1.7684e-11	1	1	0	T	134618793	G	T	134618793	4	4	81	1	0	0	0	0	0	1	0	0	2599	943	33	4	1340	4	CALD1	7	134618793	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	400979	134618793	24519870	6422	10038											
CALD1	800	broad.mit.edu	37	7	134635185	134635185	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:134635185C>T	ENST00000361388.2	+	9	1634	c.1168C>T	c.(1168-1170)Cgc>Tgc	p.R390C	CALD1_ENST00000466704.1_3'UTR|CALD1_ENST00000361901.2_Missense_Mutation_p.R364C|CALD1_ENST00000422748.1_Missense_Mutation_p.R390C|CALD1_ENST00000393118.2_Missense_Mutation_p.R384C|CALD1_ENST00000417172.1_Missense_Mutation_p.R364C|CALD1_ENST00000361675.2_Missense_Mutation_p.R619C|CALD1_ENST00000424922.1_Missense_Mutation_p.R358C|CALD1_ENST00000495522.1_Missense_Mutation_p.R384C|CALD1_ENST00000543443.1_Missense_Mutation_p.R369C	NM_033138.3|NM_033157.3	NP_149129.2|NP_149347.2	Q05682	CALD1_HUMAN	caldesmon 1	619					cellular component movement|muscle contraction	cytosol|focal adhesion|myofibril	actin binding|calmodulin binding|myosin binding|tropomyosin binding			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(15)|lung(10)	43						TGCTGAGAAACGCCAGAAGAT	0.433													39	39					0	0	1	0	0	T	134635185	C	T	134635185	3	4	81	1	0	0	0	0	1	0	0	0	2599	536	19	1	1938	1	CALD1	7	134635185	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	16392	134635185	24503478	6423	10039											
CALD1	800	broad.mit.edu	37	7	134644788	134644788	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:134644788G>A	ENST00000361388.2	+	12	1904	c.1438G>A	c.(1438-1440)Gta>Ata	p.V480I	CALD1_ENST00000466704.1_3'UTR|CALD1_ENST00000361901.2_Missense_Mutation_p.V454I|CALD1_ENST00000422748.1_Missense_Mutation_p.V479I|CALD1_ENST00000393118.2_Missense_Mutation_p.V474I|CALD1_ENST00000417172.1_Missense_Mutation_p.V454I|CALD1_ENST00000361675.2_Missense_Mutation_p.V709I|CALD1_ENST00000424922.1_Missense_Mutation_p.V448I|CALD1_ENST00000495522.1_Missense_Mutation_p.V473I|CALD1_ENST00000543443.1_Missense_Mutation_p.V459I	NM_033138.3|NM_033157.3	NP_149129.2|NP_149347.2	Q05682	CALD1_HUMAN	caldesmon 1	709					cellular component movement|muscle contraction	cytosol|focal adhesion|myofibril	actin binding|calmodulin binding|myosin binding|tropomyosin binding			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(15)|lung(10)	43						TGCTGAAGGTGTACGCAACAT	0.458													7	78					0	0	1	0	0	A	134644788	G	A	134644788	3	1	81	1	0	0	0	0	1	0	0	0	2599	1377	48	2	2220	2	CALD1	7	134644788	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	9603	134644788	24493875	6424	10040											
TMEM140	55281	broad.mit.edu	37	7	134849717	134849717	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:134849717C>T	ENST00000275767.3	+	2	747	c.524C>T	c.(523-525)gCt>gTt	p.A175V	C7orf49_ENST00000459937.1_Intron	NM_018295.3	NP_060765.4	Q9NV12	TM140_HUMAN	transmembrane protein 140							integral to membrane				kidney(1)|large_intestine(2)|lung(2)	5						CCTCTGAGGGCTGAGAGGGCT	0.577													32	29					0	0	1	0	0	T	134849717	C	T	134849717	3	4	81	1	0	0	0	0	1	0	0	0	16115	797	28	2	526	2	TMEM140	7	134849717	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	204929	134849717	24288946	6425	10041											
C7orf49	78996	broad.mit.edu	37	7	134851540	134851540	+	Silent	SNP	C	C	T	rs146289482		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:134851540C>T	ENST00000424142.1	-	4	734	c.132G>A	c.(130-132)tcG>tcA	p.S44S	C7orf49_ENST00000483029.2_Silent_p.S44S|C7orf49_ENST00000430372.1_Silent_p.S98S|C7orf49_ENST00000459937.1_Intron|C7orf49_ENST00000393114.3_Silent_p.S99S	NM_001243749.1|NM_001243753.1	NP_001230678.1|NP_001230682.1	Q9BWK5	MRI_HUMAN	chromosome 7 open reading frame 49	99						cytoplasm				endometrium(1)|large_intestine(4)|lung(1)|ovary(1)	7						TTGTGTGAGGCGACACGGAGC	0.642													59	45					0	0	1	0	0	T	134851540	C	T	134851540	2	4	81	1	0	0	0	0	0	0	0	1	2414	755	27	1		1	C7orf49	7	134851540	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1823	134851540	24287123	6426	10042											
CNOT4	4850	broad.mit.edu	37	7	135082964	135082964	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:135082964G>T	ENST00000428680.2	-	8	1106	c.827C>A	c.(826-828)cCt>cAt	p.P276H	CNOT4_ENST00000356162.4_Missense_Mutation_p.P279H|CNOT4_ENST00000414802.1_Missense_Mutation_p.P279H|CNOT4_ENST00000541284.1_Missense_Mutation_p.P279H|CNOT4_ENST00000451834.1_Missense_Mutation_p.P276H|CNOT4_ENST00000315544.5_Missense_Mutation_p.P279H|CNOT4_ENST00000361528.4_Missense_Mutation_p.P276H|CNOT4_ENST00000423368.2_Missense_Mutation_p.P279H	NM_001008225.2	NP_001008226.1	O95628	CNOT4_HUMAN	CCR4-NOT transcription complex, subunit 4	279					nuclear-transcribed mRNA poly(A) tail shortening|protein autoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	nucleotide binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	22						AGAATCTGAAGGTTTGTCAAT	0.323													9	58					7.48243e-07	8.64403e-07	1	1	0	T	135082964	G	T	135082964	3	4	81	1	0	0	0	0	1	0	0	0	3644	1000	35	4	1213	4	CNOT4	7	135082964	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	231424	135082964	24055699	6427	10043											
NUP205	23165	broad.mit.edu	37	7	135304414	135304414	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:135304414C>T	ENST00000285968.6	+	29	4233	c.4207C>T	c.(4207-4209)Ctg>Ttg	p.L1403L		NM_015135.2	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	1403					carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						ATTGAAGAAACTGTTAGACTT	0.303													18	54					0	0	1	0	0	T	135304414	C	T	135304414	2	4	81	1	0	0	0	0	0	0	0	1	10807	564	20	2		2	NUP205	7	135304414	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	221450	135304414	23834249	6428	10044											
NUP205	23165	broad.mit.edu	37	7	135307563	135307563	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:135307563G>A	ENST00000285968.6	+	31	4395	c.4369G>A	c.(4369-4371)Gat>Aat	p.D1457N		NM_015135.2	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	1457					carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						AGCCCCTGAAGATGTATTTAG	0.403													24	73					0	0	1	0	0	A	135307563	G	A	135307563	3	1	81	1	0	0	0	0	1	0	0	0	10807	942	33	2	4491	2	NUP205	7	135307563	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	3149	135307563	23831100	6429	10045											
NUP205	23165	broad.mit.edu	37	7	135310033	135310033	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:135310033G>A	ENST00000285968.6	+	32	4627	c.4601G>A	c.(4600-4602)cGt>cAt	p.R1534H		NM_015135.2	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	1534					carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						GAAGATGACCGTACTTTGCAG	0.413													101	80					0	0	1	0	0	A	135310033	G	A	135310033	3	1	81	1	0	0	0	0	1	0	0	0	10807	1145	40	1	4727	1	NUP205	7	135310033	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2470	135310033	23828630	6430	10046											
SLC13A4	26266	broad.mit.edu	37	7	135391027	135391027	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:135391027G>T	ENST00000354042.4	-	4	1076	c.387C>A	c.(385-387)tgC>tgA	p.C129*		NM_012450.2	NP_036582.2	Q9UKG4	S13A4_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 4	129						integral to plasma membrane	sodium:sulfate symporter activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	24						ACGTGGTACAGCACATGAAGC	0.632													6	67					0.00116845	0.00124301	1	1	0	T	135391027	G	T	135391027	4	4	81	1	0	0	0	0	0	1	0	0	14449	963	34	4	1545	4	SLC13A4	7	135391027	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	80994	135391027	23747636	6431	10047											
CREB3L2	64764	broad.mit.edu	37	7	137569746	137569746	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:137569746G>T	ENST00000330387.6	-	10	1616	c.1265C>A	c.(1264-1266)tCc>tAc	p.S422Y	CREB3L2_ENST00000456390.1_Missense_Mutation_p.S422Y	NM_194071.3	NP_919047.2	Q70SY1	CR3L2_HUMAN	cAMP responsive element binding protein 3-like 2	422					chondrocyte differentiation|positive regulation of transcription, DNA-dependent|response to endoplasmic reticulum stress|response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	cAMP response element binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		FUS/CREB3L2(158)	breast(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						CTTACCCACGGAGGCTGTGTA	0.532			T	FUS	fibromyxoid sarcoma								55	57					8.72158e-25	1.15245e-24	1	1	0	T	137569746	G	T	137569746	3	4	81	1	0	0	0	0	1	0	0	0	3880	1174	41	5	309	5	CREB3L2	7	137569746	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2178719	137569746	21568917	6432	10048											
AKR1D1	6718	broad.mit.edu	37	7	137776629	137776629	+	Splice_Site	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:137776629A>C	ENST00000242375.3	+	3	419	c.377A>C	c.(376-378)aAg>aCg	p.K126T	AKR1D1_ENST00000411726.2_Splice_Site_p.K126T|AKR1D1_ENST00000432161.1_Splice_Site_p.K126T|AKR1D1_ENST00000468877.2_3'UTR	NM_005989.3	NP_005980.1	P51857	AK1D1_HUMAN	aldo-keto reductase family 1, member D1	126					androgen metabolic process|bile acid biosynthetic process|bile acid catabolic process|C21-steroid hormone metabolic process|cholesterol catabolic process|digestion	cytosol	aldo-keto reductase (NADP) activity|delta4-3-oxosteroid 5beta-reductase activity|steroid binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	23						ATGGCCTTTAAGGTGAGTTCA	0.512													8	88					0	0	1	0	0	C	137776629	A	C	137776629	5	2	81	1	0	0	0	0	0	0	1	0	470	86	3	5	387	5	AKR1D1	7	137776629	Splice_Site	SNP	A	TCGA-DU-6392-01A-11D-1705-08	206883	137776629	21362034	6433	10049											
KIAA1549	57670	broad.mit.edu	37	7	138588381	138588381	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:138588381G>A	ENST00000440172.1	-	8	3670	c.3622C>T	c.(3622-3624)Cgg>Tgg	p.R1208W	KIAA1549_ENST00000422774.1_Missense_Mutation_p.R1208W|KIAA1549_ENST00000242365.4_Missense_Mutation_p.R1158W	NM_001164665.1|NM_020910.2	NP_001158137.1|NP_065961.2	Q9HCM3	K1549_HUMAN	KIAA1549	1208						integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						CTCCACATCCGCCTTCTGGTG	0.572			O	BRAF	pilocytic astrocytoma								16	11					0	0	1	0	0	A	138588381	G	A	138588381	3	1	81	1	0	0	0	0	1	0	0	0	8286	1086	38	1	2282	1	KIAA1549	7	138588381	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	811752	138588381	20550282	6434	10050											
KIAA1549	57670	broad.mit.edu	37	7	138602434	138602434	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:138602434C>T	ENST00000440172.1	-	2	1986	c.1938G>A	c.(1936-1938)gcG>gcA	p.A646A	KIAA1549_ENST00000422774.1_Silent_p.A646A|KIAA1549_ENST00000242365.4_Silent_p.A596A	NM_001164665.1|NM_020910.2	NP_001158137.1|NP_065961.2	Q9HCM3	K1549_HUMAN	KIAA1549	646	Ser-rich.					integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						GAGACAGAGACGCAGGTGCTT	0.498			O	BRAF	pilocytic astrocytoma								11	4					0	0	1	0	0	T	138602434	C	T	138602434	2	4	81	1	0	0	0	0	0	0	0	1	8286	523	19	1		1	KIAA1549	7	138602434	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	14053	138602434	20536229	6435	10051											
KIAA1549	57670	broad.mit.edu	37	7	138603183	138603183	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:138603183A>G	ENST00000440172.1	-	2	1237	c.1189T>C	c.(1189-1191)Tca>Cca	p.S397P	KIAA1549_ENST00000422774.1_Missense_Mutation_p.S397P|KIAA1549_ENST00000242365.4_Missense_Mutation_p.S347P	NM_001164665.1|NM_020910.2	NP_001158137.1|NP_065961.2	Q9HCM3	K1549_HUMAN	KIAA1549	397						integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						GGGAGGGCTGAATTGCTATGC	0.522			O	BRAF	pilocytic astrocytoma								6	90					0	0	1	0	0	G	138603183	A	G	138603183	3	3	81	1	0	0	0	0	1	0	0	0	8286	246	9	3	4739	3	KIAA1549	7	138603183	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	749	138603183	20535480	6436	10052											
KIAA1549	57670	broad.mit.edu	37	7	138603454	138603454	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:138603454C>A	ENST00000440172.1	-	2	966	c.918G>T	c.(916-918)gaG>gaT	p.E306D	KIAA1549_ENST00000422774.1_Missense_Mutation_p.E306D|KIAA1549_ENST00000242365.4_Missense_Mutation_p.E256D	NM_001164665.1|NM_020910.2	NP_001158137.1|NP_065961.2	Q9HCM3	K1549_HUMAN	KIAA1549	306						integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						GCTGTGAGACCTCCCCCAAGG	0.512			O	BRAF	pilocytic astrocytoma								11	88					9.70103e-10	1.17698e-09	1	1	0	A	138603454	C	A	138603454	3	1	81	1	0	0	0	0	1	0	0	0	8286	680	24	4	5010	4	KIAA1549	7	138603454	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	271	138603454	20535209	6437	10053											
ZC3HAV1	56829	broad.mit.edu	37	7	138793934	138793934	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:138793934G>A	ENST00000242351.5	-	1	460	c.144C>T	c.(142-144)cgC>cgT	p.R48R	ZC3HAV1_ENST00000471652.1_Silent_p.R48R|ZC3HAV1_ENST00000464606.1_Silent_p.R48R	NM_020119.3	NP_064504.2	Q7Z2W4	ZCCHV_HUMAN	zinc finger CCCH-type, antiviral 1	48					response to virus	cytoplasm|nucleus	NAD+ ADP-ribosyltransferase activity|RNA binding|zinc ion binding			cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1)	37						ACACCACAAAGCGGTCGGGCC	0.711													8	11					0	0	1	0	0	A	138793934	G	A	138793934	2	1	81	1	0	0	0	0	0	0	0	1	17634	958	34	2		2	ZC3HAV1	7	138793934	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	190480	138793934	20344729	6438	10054											
TTC26	79989	broad.mit.edu	37	7	138872160	138872160	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:138872160G>T	ENST00000464848.1	+	17	1508	c.1428G>T	c.(1426-1428)caG>caT	p.Q476H	TTC26_ENST00000343187.4_Missense_Mutation_p.Q445H|TTC26_ENST00000478836.2_Missense_Mutation_p.Q369H|TTC26_ENST00000495038.1_Missense_Mutation_p.Q345H|TTC26_ENST00000430935.1_Intron			A0AVF1	TTC26_HUMAN	tetratricopeptide repeat domain 26	476							binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	24						AGATGGGCCAGTTTTACTATT	0.433													51	139					1.4374e-25	1.90267e-25	1	1	0	T	138872160	G	T	138872160	3	4	81	1	0	0	0	0	1	0	0	0	16756	1020	36	4	1494	4	TTC26	7	138872160	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	78226	138872160	20266503	6439	10055											
UBN2	254048	broad.mit.edu	37	7	138969078	138969078	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:138969078C>T	ENST00000473989.3	+	15	3427	c.3427C>T	c.(3427-3429)Ctt>Ttt	p.L1143F	UBN2_ENST00000288561.8_Missense_Mutation_p.L1060F	NM_173569.3	NP_775840.3	Q6ZU65	UBN2_HUMAN	ubinuclein 2		Ser-rich.									NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						TACAAAAAATCTTCAGGCCCC	0.473													8	41					0	0	1	0	0	T	138969078	C	T	138969078	3	4	81	1	0	0	0	0	1	0	0	0	16954	913	32	2	3485	2	UBN2	7	138969078	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	96918	138969078	20169585	6440	10056											
UBN2	254048	broad.mit.edu	37	7	138969195	138969195	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:138969195G>A	ENST00000473989.3	+	15	3544	c.3544G>A	c.(3544-3546)Gga>Aga	p.G1182R	UBN2_ENST00000288561.8_Missense_Mutation_p.G1099R	NM_173569.3	NP_775840.3	Q6ZU65	UBN2_HUMAN	ubinuclein 2		Ser-rich.									NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						TAACTCAAGCGGAGCTAATAG	0.493													34	26					0	0	1	0	0	A	138969195	G	A	138969195	3	1	81	1	0	0	0	0	1	0	0	0	16954	1117	39	1	3602	1	UBN2	7	138969195	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	117	138969195	20169468	6441	10057											
HIPK2	28996	broad.mit.edu	37	7	139285180	139285180	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:139285180C>T	ENST00000406875.3	-	11	2512	c.2418G>A	c.(2416-2418)caG>caA	p.Q806Q	HIPK2_ENST00000428878.2_Silent_p.Q779Q|HIPK2_ENST00000342645.6_Silent_p.Q806Q	NM_022740.4	NP_073577.3	Q9H2X6	HIPK2_HUMAN	homeodomain interacting protein kinase 2	806	Interaction with CTBP1 (By similarity).|Interaction with HMGA1 (By similarity).|Interaction with POU4F1 (By similarity).|Interaction with SKI and SMAD1.				apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation of BMP signaling pathway|positive regulation of JNK cascade|positive regulation of transforming growth factor beta receptor signaling pathway|SMAD protein signal transduction|transcription, DNA-dependent|virus-host interaction	centrosome|nuclear membrane|PML body	ATP binding|protein serine/threonine kinase activity|SMAD binding|transcription corepressor activity|virion binding			breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Melanoma(164;0.205)					ATGACTGGTGCTGCTTACTCT	0.552													16	43					0	0	1	0	0	T	139285180	C	T	139285180	2	4	81	1	0	0	0	0	0	0	0	1	7158	796	28	2		2	HIPK2	7	139285180	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	315985	139285180	19853483	6442	10058											
HIPK2	28996	broad.mit.edu	37	7	139288934	139288934	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:139288934A>G	ENST00000406875.3	-	10	2242	c.2148T>C	c.(2146-2148)ctT>ctC	p.L716L	HIPK2_ENST00000428878.2_Silent_p.L689L|HIPK2_ENST00000342645.6_Silent_p.L716L	NM_022740.4	NP_073577.3	Q9H2X6	HIPK2_HUMAN	homeodomain interacting protein kinase 2	716	Interaction with SKI and SMAD1.				apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation of BMP signaling pathway|positive regulation of JNK cascade|positive regulation of transforming growth factor beta receptor signaling pathway|SMAD protein signal transduction|transcription, DNA-dependent|virus-host interaction	centrosome|nuclear membrane|PML body	ATP binding|protein serine/threonine kinase activity|SMAD binding|transcription corepressor activity|virion binding			breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Melanoma(164;0.205)					ATGCTGGGGGAAGCAGGATCT	0.562													11	180					0	0	1	0	0	G	139288934	A	G	139288934	2	3	81	1	0	0	0	0	0	0	0	1	7158	233	9	3		3	HIPK2	7	139288934	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	3754	139288934	19849729	6443	10059											
TBXAS1	6916	broad.mit.edu	37	7	139661747	139661747	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:139661747G>T	ENST00000263552.6	+	13	1390	c.852G>T	c.(850-852)ctG>ctT	p.L284L	TBXAS1_ENST00000416849.2_Silent_p.L330L|TBXAS1_ENST00000462275.1_3'UTR|TBXAS1_ENST00000414508.2_Silent_p.L284L|TBXAS1_ENST00000336425.5_Silent_p.L283L|TBXAS1_ENST00000425687.1_Silent_p.L216L|TBXAS1_ENST00000458722.1_Silent_p.L329L|TBXAS1_ENST00000411653.1_Silent_p.L283L|TBXAS1_ENST00000436047.2_Silent_p.L284L|TBXAS1_ENST00000448866.1_Silent_p.L283L	NM_001130966.2	NP_001124438	P24557	THAS_HUMAN	thromboxane A synthase 1 (platelet)	283					hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|thromboxane-A synthase activity			breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	28	Melanoma(164;0.0142)					AAATGGTCCTGGATGCCCGAC	0.507													9	41					3.07112e-06	3.5041e-06	1	1	0	T	139661747	G	T	139661747	2	4	81	1	0	0	0	0	0	0	0	1	15724	1335	47	5		5	TBXAS1	7	139661747	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	372813	139661747	19476916	6444	10060											
PARP12	64761	broad.mit.edu	37	7	139734114	139734114	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:139734114G>T	ENST00000263549.3	-	8	2215	c.1342C>A	c.(1342-1344)Ctg>Atg	p.L448M	PARP12_ENST00000470515.1_5'UTR	NM_022750.2	NP_073587.1	Q9H0J9	PAR12_HUMAN	poly (ADP-ribose) polymerase family, member 12	448	WWE 2.			VQKNLVY -> MGGFGQH (in Ref. 4).		nucleus	NAD+ ADP-ribosyltransferase activity|nucleic acid binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	19	Melanoma(164;0.0142)					CCATAGACCAGGTTTTTCTGA	0.408													17	9					1.00905e-13	1.27467e-13	1	1	0	T	139734114	G	T	139734114	3	4	81	1	0	0	0	0	1	0	0	0	11504	991	35	4	783	4	PARP12	7	139734114	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	72367	139734114	19404549	6445	10061											
RAB19	401409	broad.mit.edu	37	7	140125904	140125904	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:140125904T>C	ENST00000275874.5	+	5	947	c.749T>C	c.(748-750)gTt>gCt	p.V250A	RAB19_ENST00000537763.1_Missense_Mutation_p.V203A|RAB19_ENST00000356407.3_Missense_Mutation_p.V203A			A4D1S5	RAB19_HUMAN	RAB19, member RAS oncogene family	203					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding			breast(3)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	9	Melanoma(164;0.0142)					TCCAGCCCCGTTCTTATGGCC	0.577													9	94					0	0	1	0	0	C	140125904	T	C	140125904	3	2	81	1	0	0	0	0	1	0	0	0	12956	1725	60	3	618	3	RAB19	7	140125904	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	391790	140125904	19012759	6446	10062											
DENND2A	27147	broad.mit.edu	37	7	140244525	140244525	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:140244525G>A	ENST00000275884.6	-	13	2637	c.2220C>T	c.(2218-2220)caC>caT	p.H740H	DENND2A_ENST00000496613.1_Silent_p.H740H|DENND2A_ENST00000492720.1_Silent_p.H740H|DENND2A_ENST00000537639.1_Silent_p.H740H			Q9ULE3	DEN2A_HUMAN	DENN/MADD domain containing 2A	740	DENN.									breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49	Melanoma(164;0.00956)					CAAAGTCCACGTGCTCGAGCC	0.617													7	7					0	0	1	0	0	A	140244525	G	A	140244525	2	1	81	1	0	0	0	0	0	0	0	1	4457	1136	40	1		1	DENND2A	7	140244525	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	118621	140244525	18894138	6447	10063											
DENND2A	27147	broad.mit.edu	37	7	140287481	140287481	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:140287481C>T	ENST00000275884.6	-	3	1512	c.1095G>A	c.(1093-1095)tcG>tcA	p.S365S	DENND2A_ENST00000496613.1_Silent_p.S365S|DENND2A_ENST00000492720.1_Silent_p.S365S|DENND2A_ENST00000537639.1_Silent_p.S365S			Q9ULE3	DEN2A_HUMAN	DENN/MADD domain containing 2A	365										breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49	Melanoma(164;0.00956)					CGTTCTCCTCCGATAAAGTGC	0.527													25	114					0	0	1	0	0	T	140287481	C	T	140287481	2	4	81	1	0	0	0	0	0	0	0	1	4457	639	23	1		1	DENND2A	7	140287481	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	42956	140287481	18851182	6448	10064											
ADCK2	90956	broad.mit.edu	37	7	140373929	140373929	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:140373929C>A	ENST00000072869.4	+	1	977	c.799C>A	c.(799-801)Ctc>Atc	p.L267I	ADCK2_ENST00000476491.1_Missense_Mutation_p.L267I	NM_052853.3	NP_443085.2	Q7Z695	ADCK2_HUMAN	aarF domain containing kinase 2	267	Protein kinase.					integral to membrane	ATP binding|protein serine/threonine kinase activity			cervix(1)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|skin(4)	15	Melanoma(164;0.00956)					TCCAGAAAATCTCGCAGACCA	0.577													5	72					1	1	1	1	0	A	140373929	C	A	140373929	3	1	81	1	0	0	0	0	1	0	0	0	288	913	32	4	801	4	ADCK2	7	140373929	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	86448	140373929	18764734	6449	10065											
BRAF	673	broad.mit.edu	37	7	140500184	140500184	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:140500184C>T	ENST00000288602.6	-	7	1018	c.958G>A	c.(958-960)Gca>Aca	p.A320T		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	320					activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding		SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	GAGGCGGGTGCGGAAGGGGAT	0.493		61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				50	42					0	0	1	0	0	T	140500184	C	T	140500184	3	4	81	1	0	0	0	0	1	0	0	0	1498	768	27	1	1390	1	BRAF	7	140500184	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	126255	140500184	18638479	6450	10066											
BRAF	673	broad.mit.edu	37	7	140508788	140508788	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:140508788G>T	ENST00000288602.6	-	4	572	c.512C>A	c.(511-513)gCa>gAa	p.A171E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	171	RBD.				activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding		SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCCACACCTTGCAGGTACCTA	0.348		61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				24	76					0.000586117	0.000632696	1	1	0	T	140508788	G	T	140508788	3	4	81	1	0	0	0	0	1	0	0	0	1498	1319	46	5	1848	5	BRAF	7	140508788	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	8604	140508788	18629875	6451	10067											
KIAA1147	57189	broad.mit.edu	37	7	141385376	141385376	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:141385376G>A	ENST00000536163.1	-	3	428	c.429C>T	c.(427-429)agC>agT	p.S143S	KIAA1147_ENST00000482493.1_Silent_p.S52S	NM_001080392.1	NP_001073861.1	A4D1U4	LCHN_HUMAN	KIAA1147	143										breast(3)|endometrium(4)|kidney(2)|large_intestine(1)|ovary(1)|skin(1)	12	Melanoma(164;0.0171)					GTTCCAGCTCGCTCTCCACGG	0.557													42	34					0	0	1	0	0	A	141385376	G	A	141385376	2	1	81	1	0	0	0	0	0	0	0	1	8252	1078	38	1		1	KIAA1147	7	141385376	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	876588	141385376	17753287	6452	10068											
WEE2	494551	broad.mit.edu	37	7	141420793	141420793	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:141420793G>A	ENST00000397541.2	+	5	1223	c.817G>A	c.(817-819)Gta>Ata	p.V273I	WEE2-AS1_ENST00000484172.1_RNA|WEE2-AS1_ENST00000495800.1_RNA|WEE2-AS1_ENST00000478332.1_RNA|WEE2-AS1_ENST00000459753.1_RNA|WEE2-AS1_ENST00000462383.1_RNA|WEE2-AS1_ENST00000488785.1_RNA|WEE2-AS1_ENST00000465110.1_RNA|WEE2-AS1_ENST00000471512.1_RNA	NM_001105558.1	NP_001099028.1	P0C1S8	WEE2_HUMAN	WEE1 homolog 2 (S. pombe)	273	Protein kinase.				egg activation|female meiosis|female pronucleus assembly|meiotic metaphase II|meiotic prophase I|mitosis|negative regulation of oocyte development|regulation of meiosis I	centrosome|nucleus	ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31	Melanoma(164;0.0171)					CCCCCATGTGGTACGTTACTA	0.408													89	77					0	0	1	0	0	A	141420793	G	A	141420793	3	1	81	1	0	0	0	0	1	0	0	0	17405	1261	44	2	835	2	WEE2	7	141420793	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	35417	141420793	17717870	6453	10069											
TAS2R3	50831	broad.mit.edu	37	7	141464473	141464473	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:141464473G>T	ENST00000247879.2	+	1	577	c.515G>T	c.(514-516)aGa>aTa	p.R172I	SSBP1_ENST00000465582.1_Intron	NM_016943.2	NP_058639.1	Q9NYW6	TA2R3_HUMAN	taste receptor, type 2, member 3	172					sensory perception of taste		taste receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)	14	Melanoma(164;0.0171)					GAACACTTCAGAAAGAAGAGG	0.458													9	73					0.000274275	0.000297259	1	1	0	T	141464473	G	T	141464473	3	4	81	1	0	0	0	0	1	0	0	0	15629	942	33	4	517	4	TAS2R3	7	141464473	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	43680	141464473	17674190	6454	10070											
TAS2R5	54429	broad.mit.edu	37	7	141490585	141490585	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:141490585G>A	ENST00000247883.4	+	1	569	c.424G>A	c.(424-426)Gtc>Atc	p.V142I		NM_018980.2	NP_061853.1	Q9NYW4	TA2R5_HUMAN	taste receptor, type 2, member 5	142					chemosensory behavior|sensory perception of taste		taste receptor activity			breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1)	9	Melanoma(164;0.0171)					GTTACTTACAGTCCAAATTGG	0.468													30	25					0	0	1	0	0	A	141490585	G	A	141490585	3	1	81	1	0	0	0	0	1	0	0	0	15640	1029	36	2	426	2	TAS2R5	7	141490585	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	26112	141490585	17648078	6455	10071											
OR9A4	130075	broad.mit.edu	37	7	141619580	141619580	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:141619580G>A	ENST00000548136.1	+	1	964	c.905G>A	c.(904-906)cGg>cAg	p.R302Q	MGAM_ENST00000497554.1_Intron	NM_001001656.1	NP_001001656.1	Q8NGU2	OR9A4_HUMAN	olfactory receptor, family 9, subfamily A, member 4	302					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|large_intestine(9)|lung(7)|prostate(1)|skin(2)	22	Melanoma(164;0.0171)					GAGGCCCTTCGGGATGGGGTG	0.423													7	71					0	0	1	0	0	A	141619580	G	A	141619580	3	1	81	1	0	0	0	0	1	0	0	0	11296	1116	39	1	907	1	OR9A4	7	141619580	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	128995	141619580	17519083	6456	10072											
TAS2R38	5726	broad.mit.edu	37	7	141673327	141673327	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:141673327A>G	ENST00000547270.1	-	1	246	c.163T>C	c.(163-165)Tgt>Cgt	p.C55R		NM_176817.4	NP_789787	P59533	T2R38_HUMAN	taste receptor, type 2, member 38	55					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			NS(2)|breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)|stomach(1)	21	Melanoma(164;0.0171)					AGCAGCACACAATCACTGTTG	0.498													4	86					0	0	1	0	0	G	141673327	A	G	141673327	3	3	81	1	0	0	0	0	1	0	0	0	15632	130	5	3	842	3	TAS2R38	7	141673327	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	53747	141673327	17465336	6457	10073											
MGAM	8972	broad.mit.edu	37	7	141719014	141719014	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:141719014C>T	ENST00000475668.2	+	4	397	c.343C>T	c.(343-345)Cgt>Tgt	p.R115C	MGAM_ENST00000549489.2_Missense_Mutation_p.R115C			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	115	P-type 1.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	ATGTGACCAACGTGGCTGTTG	0.433													6	152					0	0	1	0	0	T	141719014	C	T	141719014	3	4	81	1	0	0	0	0	1	0	0	0	9591	536	19	1	353	1	MGAM	7	141719014	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	45687	141719014	17419649	6458	10074											
MGAM	8972	broad.mit.edu	37	7	141727476	141727476	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:141727476G>T	ENST00000475668.2	+	10	1216	c.1162G>T	c.(1162-1164)Gga>Tga	p.G388*	MGAM_ENST00000549489.2_Nonsense_Mutation_p.G388*			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	388	Maltase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TTACGAATATGGAACCTTAGA	0.448													4	52					2.56e-06	2.92664e-06	1	1	0	T	141727476	G	T	141727476	4	4	81	1	0	0	0	0	0	1	0	0	9591	1349	47	5	1196	5	MGAM	7	141727476	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	8462	141727476	17411187	6459	10075											
MGAM	8972	broad.mit.edu	37	7	141759732	141759732	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:141759732A>C	ENST00000475668.2	+	33	4079	c.4025A>C	c.(4024-4026)aAa>aCa	p.K1342T	MGAM_ENST00000549489.2_Missense_Mutation_p.K1342T			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1342	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GTCTTCATCAAATACCCAAAT	0.498													10	8					0	0	1	0	0	C	141759732	A	C	141759732	3	2	81	1	0	0	0	0	1	0	0	0	9591	14	1	5	4151	5	MGAM	7	141759732	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	32256	141759732	17378931	6460	10076											
PRSS1	5644	broad.mit.edu	37	7	142460314	142460314	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:142460314G>A	ENST00000486171.1	+	5	546	c.529G>A	c.(529-531)Gct>Act	p.A177T	PRSS1_ENST00000311737.7_Missense_Mutation_p.A163T			P07477	TRY1_HUMAN	protease, serine, 1 (trypsin 1)	163	Peptidase S1.				digestion|proteolysis	extracellular space	metal ion binding|protein binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)			GTGCCTGGATGCTCCTGTGCT	0.522													57	363					0	0	1	0	0	A	142460314	G	A	142460314	3	1	81	1	0	0	0	0	1	0	0	0	12664	1319	46	2	501	2	PRSS1	7	142460314	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	700582	142460314	16678349	6461	10077											
EPHB6	2051	broad.mit.edu	37	7	142561789	142561794	+	In_Frame_Del	DEL	GGCAGG	GGCAGG	-			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:142561789_142561794delGGCAGG	ENST00000392957.2	+	7	1018_1023	c.231_236delGGCAGG	c.(229-237)gtggcaggg>gtg	p.AG78del	EPHB6_ENST00000442129.1_In_Frame_Del_p.AG78del|EPHB6_ENST00000411471.2_Intron	NM_004445.3	NP_004436.3	O15197	EPHB6_HUMAN	EPH receptor B6	78						extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					CATGTCATGTGGCAGGGGCCCCTCCA	0.636													7	320	---	---	---	---						-	142561794	GGCAGG	-	142561789	7	5	81	1	0	1	0	1	0	0	0	0	5206	1335	47	0	241	0	EPHB6	7	142561789	In_Frame_Del	DEL	GGCAGG	TCGA-DU-6392-01A-11D-1705-08	101475	142561789	16576874	6462	10078											
TRPV6	55503	broad.mit.edu	37	7	142569693	142569693	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:142569693G>A	ENST00000359396.3	-	15	2190	c.1945C>T	c.(1945-1947)Cag>Tag	p.Q649*		NM_018646.3	NP_061116	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel, subfamily V, member 6	649					regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					TGGAAGGCCTGTGCGTAGCGT	0.572													27	86					0	0	1	0	0	A	142569693	G	A	142569693	4	1	81	1	0	0	0	0	0	1	0	0	16661	1386	48	2	236	2	TRPV6	7	142569693	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	7904	142569693	16568970	6463	10079											
TRPV6	55503	broad.mit.edu	37	7	142574279	142574279	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:142574279A>T	ENST00000359396.3	-	6	889	c.644T>A	c.(643-645)aTg>aAg	p.M215K	RP11-114L10.2_ENST00000438839.1_RNA	NM_018646.3	NP_061116	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel, subfamily V, member 6	215					regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					CAGGTTGTACATCTGGCAGGC	0.562													5	96					0	0	1	0	0	T	142574279	A	T	142574279	3	4	81	1	0	0	0	0	1	0	0	0	16661	217	8	4	1573	4	TRPV6	7	142574279	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	4586	142574279	16564384	6464	10080											
TRPV5	56302	broad.mit.edu	37	7	142612660	142612660	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:142612660G>T	ENST00000265310.1	-	9	1549	c.1201C>A	c.(1201-1203)Ctc>Atc	p.L401I		NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	401					protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					ACCTCTAGGAGCAGGATGATC	0.547													12	28					7.03913e-09	8.42519e-09	1	1	0	T	142612660	G	T	142612660	3	4	81	1	0	0	0	0	1	0	0	0	16660	971	34	4	1016	4	TRPV5	7	142612660	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	38381	142612660	16526003	6465	10081											
KEL	3792	broad.mit.edu	37	7	142640600	142640600	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:142640600G>A	ENST00000355265.2	-	15	2150	c.1676C>T	c.(1675-1677)cCc>cTc	p.P559L		NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	559					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)					GAAGAATGGGGGTTGGAGGAG	0.537													31	26					0	0	1	0	0	A	142640600	G	A	142640600	3	1	81	1	0	0	0	0	1	0	0	0	8185	1232	43	2	542	2	KEL	7	142640600	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	27940	142640600	16498063	6466	10082											
KEL	3792	broad.mit.edu	37	7	142655508	142655508	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:142655508C>A	ENST00000355265.2	-	5	882	c.408G>T	c.(406-408)caG>caT	p.Q136H	KEL_ENST00000479768.2_5'UTR	NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	136					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)					GCCAGGAATTCTGGACCTCTA	0.502													5	69					0.000602214	0.000646338	1	1	0	A	142655508	C	A	142655508	3	1	81	1	0	0	0	0	1	0	0	0	8185	912	32	4	1850	4	KEL	7	142655508	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	14908	142655508	16483155	6467	10083											
OR6V1	346517	broad.mit.edu	37	7	142749947	142749947	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:142749947C>T	ENST00000418316.1	+	1	531	c.510C>T	c.(508-510)gaC>gaT	p.D170D		NM_001001667.1	NP_001001667.1	Q8N148	OR6V1_HUMAN	olfactory receptor, family 6, subfamily V, member 1	170					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	20	Melanoma(164;0.059)					GCCATGGCGACGTCATCAACC	0.542													89	91					0	0	1	0	0	T	142749947	C	T	142749947	2	4	81	1	0	0	0	0	0	0	0	1	11258	535	19	1		1	OR6V1	7	142749947	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	94439	142749947	16388716	6468	10084											
CLCN1	1180	broad.mit.edu	37	7	143028657	143028657	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:143028657C>T	ENST00000343257.2	+	10	1165	c.1078C>T	c.(1078-1080)Ctc>Ttc	p.L360F		NM_000083.2	NP_000074	P35523	CLCN1_HUMAN	chloride channel, voltage-sensitive 1	360					muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					TTGCTGTGGGCTCCTGGGAGC	0.473													55	34					0	0	1	0	0	T	143028657	C	T	143028657	3	4	81	1	0	0	0	0	1	0	0	0	3485	797	28	2	1116	2	CLCN1	7	143028657	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	278710	143028657	16110006	6469	10085											
CLCN1	1180	broad.mit.edu	37	7	143039110	143039110	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:143039110G>A	ENST00000343257.2	+	15	1758	c.1671G>A	c.(1669-1671)ctG>ctA	p.L557L		NM_000083.2	NP_000074	P35523	CLCN1_HUMAN	chloride channel, voltage-sensitive 1	557					muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					CTCACATCCTGCCCATGATGG	0.537													23	70					0	0	1	0	0	A	143039110	G	A	143039110	2	1	81	1	0	0	0	0	0	0	0	1	3485	1306	46	2		2	CLCN1	7	143039110	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	10453	143039110	16099553	6470	10086											
EPHA1	2041	broad.mit.edu	37	7	143088766	143088766	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:143088766G>A	ENST00000275815.3	-	17	2885	c.2799C>T	c.(2797-2799)caC>caT	p.H933H		NM_005232.4	NP_005223.4	P21709	EPHA1_HUMAN	EPH receptor A1	933	SAM.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				CCGAGTGGAAGTGCAGGATGT	0.612													4	39					0	0	1	0	0	A	143088766	G	A	143088766	2	1	81	1	0	0	0	0	0	0	0	1	5193	1020	36	2		2	EPHA1	7	143088766	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	49656	143088766	16049897	6471	10087											
TAS2R41	259287	broad.mit.edu	37	7	143175323	143175323	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:143175323C>A	ENST00000408916.1	+	1	358	c.358C>A	c.(358-360)Ctg>Atg	p.L120M	EPHA1-AS1_ENST00000429289.1_RNA	NM_176883.2	NP_795364.2	P59536	T2R41_HUMAN	taste receptor, type 2, member 41	120					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			endometrium(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(2)|skin(1)	18	Melanoma(164;0.15)					CTCCACCTTCCTGTGGCTGAA	0.522													13	60					4.3838e-07	5.09097e-07	1	1	0	A	143175323	C	A	143175323	3	1	81	1	0	0	0	0	1	0	0	0	15636	680	24	4	360	4	TAS2R41	7	143175323	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	86557	143175323	15963340	6472	10088											
OR6B1	135946	broad.mit.edu	37	7	143701154	143701154	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:143701154G>T	ENST00000408922.2	+	1	133	c.65G>T	c.(64-66)aGt>aTt	p.S22I		NM_001005281.1	NP_001005281.1	O95007	OR6B1_HUMAN	olfactory receptor, family 6, subfamily B, member 1	22					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|large_intestine(3)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	27	Melanoma(164;0.0783)					GGGAGCTTGAGTATGCGGGCA	0.502													5	72					1.23904e-05	1.39156e-05	1	1	0	T	143701154	G	T	143701154	3	4	81	1	0	0	0	0	1	0	0	0	11234	1029	36	4	67	4	OR6B1	7	143701154	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	525831	143701154	15437509	6473	10089											
OR2A2	442361	broad.mit.edu	37	7	143807592	143807592	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:143807592G>A	ENST00000408979.2	+	1	986	c.917G>A	c.(916-918)aGg>aAg	p.R306K		NM_001005480.2	NP_001005480.2	Q6IF42	OR2A2_HUMAN	olfactory receptor, family 2, subfamily A, member 2	306					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4)	22	Melanoma(164;0.0783)					GCACTCCAGAGGAAGAGGTCC	0.438													92	76					0	0	1	0	0	A	143807592	G	A	143807592	3	1	81	1	0	0	0	0	1	0	0	0	11025	1000	35	2	919	2	OR2A2	7	143807592	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	106438	143807592	15331071	6474	10090											
OR2A7	401427	broad.mit.edu	37	7	143956719	143956720	+	Translation_Start_Site	INS	-	-	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:143956719_143956720insA	ENST00000493325.1	-	0	95_96				OR2A1-AS1_ENST00000476560.1_RNA|RP4-545C24.1_ENST00000460955.1_RNA|OR2A1-AS1_ENST00000489488.1_RNA|OR2A1-AS1_ENST00000463561.1_RNA|OR2A1-AS1_ENST00000461843.1_RNA|OR2A1-AS1_ENST00000487102.1_RNA|OR2A1-AS1_ENST00000478806.1_RNA|ARHGEF35_ENST00000543357.1_Intron	NM_001005328.1	NP_001005328.1	Q96R45	OR2A7_HUMAN	olfactory receptor, family 2, subfamily A, member 7						sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)	6	Melanoma(164;0.14)					TATTGTCCCCCATATCCCTATG	0.436													9	435	---	---	---	---						A	143956720	-	A	143956719	6	5	81	1	0	1	1	0	0	0	0	0	11030	594	21	0		0	OR2A7	7	143956719	Translation_Start_Site	INS	-	TCGA-DU-6392-01A-11D-1705-08	149127	143956719	15181944	6475	10091											
NOBOX	135935	broad.mit.edu	37	7	144097329	144097329	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:144097329C>A	ENST00000467773.1	-	5	920	c.921G>T	c.(919-921)caG>caT	p.Q307H	NOBOX_ENST00000483238.1_Missense_Mutation_p.Q307H|NOBOX_ENST00000223140.5_Missense_Mutation_p.Q222H	NM_001080413.3	NP_001073882.3	O60393	NOBOX_HUMAN	NOBOX oogenesis homeobox	307					cell differentiation|oogenesis	nucleus	sequence-specific DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	26	Melanoma(164;0.14)					CCCCCACCGTCTGGGCAATCT	0.552													9	63					1.58986e-06	1.82794e-06	1	1	0	A	144097329	C	A	144097329	3	1	81	1	0	0	0	0	1	0	0	0	10559	912	32	4	1082	4	NOBOX	7	144097329	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	140610	144097329	15041334	6476	10092											
TPK1	27010	broad.mit.edu	37	7	144288549	144288549	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:144288549G>A	ENST00000549981.1	-	9	840	c.117C>T	c.(115-117)atC>atT	p.I39I	TPK1_ENST00000538212.2_Intron|TPK1_ENST00000360057.3_Silent_p.I156I|TPK1_ENST00000378099.3_Intron|TPK1_ENST00000547966.1_5'UTR			Q9H3S4	TPK1_HUMAN	thiamin pyrophosphokinase 1	156					thiamine diphosphate biosynthetic process	cytosol	ATP binding|kinase activity|thiamine diphosphokinase activity			large_intestine(3)|lung(12)|ovary(2)|urinary_tract(2)	19					Thiamine(DB00152)	ATTCCTCTTGGATTATTATAA	0.443													104	71					0	0	1	0	0	A	144288549	G	A	144288549	2	1	81	1	0	0	0	0	0	0	0	1	16465	1164	41	2		2	TPK1	7	144288549	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	191220	144288549	14850114	6477	10093											
CNTNAP2	26047	broad.mit.edu	37	7	147336303	147336303	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:147336303C>T	ENST00000361727.3	+	13	2519	c.2003C>T	c.(2002-2004)tCc>tTc	p.S668F		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	668	Fibrinogen C-terminal.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			TACAGCGCCTCCATGGACCAG	0.498										HNSCC(39;0.1)			60	44					0	0	1	0	0	T	147336303	C	T	147336303	3	4	81	1	0	0	0	0	1	0	0	0	3670	855	30	2	2053	2	CNTNAP2	7	147336303	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3047754	147336303	11802360	6478	10094											
CNTNAP2	26047	broad.mit.edu	37	7	148080782	148080782	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:148080782C>A	ENST00000361727.3	+	22	4033	c.3517C>A	c.(3517-3519)Cca>Aca	p.P1173T	CNTNAP2_ENST00000538075.1_Missense_Mutation_p.P232T|CNTNAP2_ENST00000463592.2_3'UTR	NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	1173	Laminin G-like 4.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			ATACAACACCCCAGGATTCAC	0.468										HNSCC(39;0.1)			28	60					9.39395e-14	1.1871e-13	1	1	0	A	148080782	C	A	148080782	3	1	81	1	0	0	0	0	1	0	0	0	3670	623	22	5	3603	5	CNTNAP2	7	148080782	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	744479	148080782	11057881	6479	10095											
EZH2	2146	broad.mit.edu	37	7	148506461	148506461	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:148506461C>T	ENST00000320356.2	-	18	2172	c.2051G>A	c.(2050-2052)cGc>cAc	p.R684H	EZH2_ENST00000476773.1_Missense_Mutation_p.R628H|EZH2_ENST00000541220.1_Missense_Mutation_p.R628H|EZH2_ENST00000350995.2_Missense_Mutation_p.R640H|EZH2_ENST00000483967.1_Missense_Mutation_p.R670H|EZH2_ENST00000478654.1_Missense_Mutation_p.R628H|EZH2_ENST00000460911.1_Missense_Mutation_p.R679H	NM_001203247.1|NM_001203248.1|NM_004456.4	NP_001190176.1|NP_001190177.1|NP_004447.2	Q15910	EZH2_HUMAN	enhancer of zeste homolog 2 (Drosophila)	679	SET.				negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	DNA binding|histone-lysine N-methyltransferase activity|protein binding	p.R684H(1)|p.R640H(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(313)|kidney(3)|large_intestine(8)|liver(1)|lung(23)|parathyroid(2)|skin(3)|upper_aerodigestive_tract(3)	359	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00239)			GTTACCCTTGCGGGTTGCATC	0.358			Mis		DLBCL								40	124					0	0	1	0	0	T	148506461	C	T	148506461	3	4	81	1	0	0	0	0	1	0	0	0	5362	768	27	1	216	1	EZH2	7	148506461	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	425679	148506461	10632202	6480	10096											
PDIA4	9601	broad.mit.edu	37	7	148718144	148718144	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:148718144T>G	ENST00000286091.4	-	2	416	c.184A>C	c.(184-186)Aat>Cat	p.N62H		NM_004911.4	NP_004902.1	P13667	PDIA4_HUMAN	protein disulfide isomerase family A, member 4	62	Thioredoxin 1.				cell redox homeostasis|glycerol ether metabolic process|protein secretion	endoplasmic reticulum lumen|melanosome	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			large_intestine(6)|lung(15)|ovary(2)|prostate(1)	24	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00385)			AAGACTCCATTTTCTTCCTTA	0.433													3	50					0	0	1	0	0	G	148718144	T	G	148718144	3	3	81	1	0	0	0	0	1	0	0	0	11717	1841	64	5	1789	5	PDIA4	7	148718144	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	211683	148718144	10420519	6481	10097											
ZNF786	136051	broad.mit.edu	37	7	148768026	148768026	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:148768026C>T	ENST00000316286.9	-	3	1852	c.1580G>A	c.(1579-1581)cGc>cAc	p.R527H	ZNF786_ENST00000451334.3_Missense_Mutation_p.R576H|ZNF786_ENST00000491431.1_Missense_Mutation_p.R613H			Q8N393	ZN786_HUMAN	zinc finger protein 786	613					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(2)	26	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			CGTGTGCAGGCGCTGATGGCT	0.657													12	37					0	0	1	0	0	T	148768026	C	T	148768026	3	4	81	1	0	0	0	0	1	0	0	0	18207	768	27	1	514	1	ZNF786	7	148768026	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	49882	148768026	10370637	6482	10098											
ZNF786	136051	broad.mit.edu	37	7	148768624	148768624	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:148768624C>T	ENST00000316286.9	-	3	1254	c.982G>A	c.(982-984)Gtc>Atc	p.V328I	ZNF786_ENST00000451334.3_Missense_Mutation_p.V377I|ZNF786_ENST00000491431.1_Missense_Mutation_p.V414I			Q8N393	ZN786_HUMAN	zinc finger protein 786	414					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(2)	26	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			TGCTGGTGGACCTGCAGCAGG	0.642													17	28					0	0	1	0	0	T	148768624	C	T	148768624	3	4	81	1	0	0	0	0	1	0	0	0	18207	507	18	2	1112	2	ZNF786	7	148768624	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	598	148768624	10370039	6483	10099											
ZNF425	155054	broad.mit.edu	37	7	148809279	148809279	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:148809279G>T	ENST00000378061.2	-	3	386	c.254C>A	c.(253-255)cCt>cAt	p.P85H	ZNF425_ENST00000484196.1_5'UTR	NM_001001661.2	NP_001001661.1	Q6IV72	ZN425_HUMAN	zinc finger protein 425	85					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	50	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			TTCATCAGTAGGAGGGCTAGT	0.373													10	189					0.000442599	0.000477972	1	1	0	T	148809279	G	T	148809279	3	4	81	1	0	0	0	0	1	0	0	0	17956	1000	35	4	2012	4	ZNF425	7	148809279	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	40655	148809279	10329384	6484	10100											
ZNF425	155054	broad.mit.edu	37	7	148809367	148809367	+	Missense_Mutation	SNP	C	C	A	rs144417073		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:148809367C>A	ENST00000378061.2	-	3	298	c.166G>T	c.(166-168)Gat>Tat	p.D56Y	ZNF425_ENST00000484196.1_5'UTR	NM_001001661.2	NP_001001661.1	Q6IV72	ZN425_HUMAN	zinc finger protein 425	56	KRAB.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	50	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			GTGATCAAATCTGGCTTGGAA	0.428													114	129					1.46925e-46	1.9763e-46	1	1	0	A	148809367	C	A	148809367	3	1	81	1	0	0	0	0	1	0	0	0	17956	913	32	4	2100	4	ZNF425	7	148809367	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	88	148809367	10329296	6485	10101											
ZNF398	57541	broad.mit.edu	37	7	148876569	148876569	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:148876569C>T	ENST00000420008.2	+	6	1880	c.1092C>T	c.(1090-1092)ggC>ggT	p.G364G	ZNF398_ENST00000483892.1_Silent_p.G364G|ZNF398_ENST00000475153.1_Silent_p.G535G|ZNF398_ENST00000540950.1_Silent_p.G540G|ZNF398_ENST00000491174.1_Silent_p.G364G|ZNF398_ENST00000426851.2_Silent_p.G364G|ZNF398_ENST00000335901.4_Silent_p.G364G	NM_170686.2	NP_733787.1	Q8TD17	ZN398_HUMAN	zinc finger protein 398	535					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)	25	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00143)			TGCACACAGGCGAGCGGCCCT	0.607													18	42					0	0	1	0	0	T	148876569	C	T	148876569	2	4	81	1	0	0	0	0	0	0	0	1	17942	755	27	1		1	ZNF398	7	148876569	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	67202	148876569	10262094	6486	10102											
ZNF282	8427	broad.mit.edu	37	7	148909549	148909549	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:148909549C>T	ENST00000262085.3	+	6	1157	c.1052C>T	c.(1051-1053)aCg>aTg	p.T351M	ZNF282_ENST00000479907.1_Missense_Mutation_p.T351M	NM_003575.2	NP_003566.1	Q9UDV7	ZN282_HUMAN	zinc finger protein 282	351					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(3)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	17	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00171)	Lung(243;0.145)		GATATTCCCACGGATCCCAAT	0.433													4	18					0	0	1	0	0	T	148909549	C	T	148909549	3	4	81	1	0	0	0	0	1	0	0	0	17877	536	19	1	1074	1	ZNF282	7	148909549	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	32980	148909549	10229114	6487	10103											
ZNF212	7988	broad.mit.edu	37	7	148947529	148947529	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:148947529C>T	ENST00000335870.2	+	2	432	c.304C>T	c.(304-306)Cag>Tag	p.Q102*		NM_012256.3	NP_036388.2	Q9UDV6	ZN212_HUMAN	zinc finger protein 212	102					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|identical protein binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(4)|ovary(1)|prostate(1)	9	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00171)			GACCCTGCTGCAGGAGTATGG	0.652													20	144					0	0	1	0	0	T	148947529	C	T	148947529	4	4	81	1	0	0	0	0	0	1	0	0	17826	711	25	2	310	2	ZNF212	7	148947529	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	37980	148947529	10191134	6488	10104											
ZNF777	27153	broad.mit.edu	37	7	149129626	149129626	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:149129626G>A	ENST00000247930.4	-	6	2060	c.1737C>T	c.(1735-1737)tgC>tgT	p.C579C		NM_015694.2	NP_056509.2	Q9ULD5	ZN777_HUMAN	zinc finger protein 777	579					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1)	26	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			AGCTGATCTCGCATTCGGCGC	0.627													21	25					0	0	1	0	0	A	149129626	G	A	149129626	2	1	81	1	0	0	0	0	0	0	0	1	18199	1079	38	1		1	ZNF777	7	149129626	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	182097	149129626	10009037	6489	10105											
ZNF777	27153	broad.mit.edu	37	7	149152973	149152973	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:149152973A>G	ENST00000247930.4	-	2	464	c.141T>C	c.(139-141)tcT>tcC	p.S47S		NM_015694.2	NP_056509.2	Q9ULD5	ZN777_HUMAN	zinc finger protein 777	47					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1)	26	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			GAATGGTGGGAGACAAAGAAG	0.557													6	113					0	0	1	0	0	G	149152973	A	G	149152973	2	3	81	1	0	0	0	0	0	0	0	1	18199	291	11	3		3	ZNF777	7	149152973	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	23347	149152973	9985690	6490	10106											
ZNF746	155061	broad.mit.edu	37	7	149174013	149174013	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:149174013C>A	ENST00000340622.3	-	6	1118	c.838G>T	c.(838-840)Gat>Tat	p.D280Y	ZNF746_ENST00000458143.2_Splice_Site_p.A280S			Q6NUN9	ZN746_HUMAN	zinc finger protein 746	280					negative regulation of transcription, DNA-dependent|neuron death|regulation of cell death|transcription, DNA-dependent	cytoplasm|nucleus	transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			CCACCTGTACCTTCCGTGGAG	0.612													11	227					0.000219431	0.000239308	1	1	0	A	149174013	C	A	149174013	5	1	81	1	0	0	0	0	0	0	1	0	18179	695	24	4	1107	4	ZNF746	7	149174013	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	21040	149174013	9964650	6491	10107											
SSPO	23145	broad.mit.edu	37	7	149479958	149479958	+	RNA	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:149479958G>T	ENST00000378016.2	+	0	1924							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CAATGGGCAGGATGTGGGCTT	0.652													6	27					8.12818e-05	8.94031e-05	1	1	0	T	149479958	G	T	149479958	1	4	81	0	1	0	0	0	0	0	0	0	15245	1174	41	5		5	SSPO	7	149479958	RNA	SNP	G	TCGA-DU-6392-01A-11D-1705-08	305945	149479958	9658705	6492	10108											
SSPO	23145	broad.mit.edu	37	7	149481158	149481158	+	RNA	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:149481158C>T	ENST00000378016.2	+	0	2640							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CCAGCTTGTGCCCCTGCCAGC	0.642													3	10					0	0	1	0	0	T	149481158	C	T	149481158	1	4	81	0	1	0	0	0	0	0	0	0	15245	747	26	2		2	SSPO	7	149481158	RNA	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1200	149481158	9657505	6493	10109											
SSPO	23145	broad.mit.edu	37	7	149485905	149485905	+	RNA	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:149485905C>T	ENST00000378016.2	+	0	4124							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CTTGTGCCTGCCTGTGCAGAG	0.612													10	44					0	0	1	0	0	T	149485905	C	T	149485905	1	4	81	0	1	0	0	0	0	0	0	0	15245	739	26	2		2	SSPO	7	149485905	RNA	SNP	C	TCGA-DU-6392-01A-11D-1705-08	4747	149485905	9652758	6494	10110											
SSPO	23145	broad.mit.edu	37	7	149486406	149486406	+	RNA	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:149486406A>G	ENST00000378016.2	+	0	4382							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GCCTGTGCCGATGGACGCTGC	0.677													3	42					0	0	1	0	0	G	149486406	A	G	149486406	1	3	81	0	1	0	0	0	0	0	0	0	15245	333	12	3		3	SSPO	7	149486406	RNA	SNP	A	TCGA-DU-6392-01A-11D-1705-08	501	149486406	9652257	6495	10111											
SSPO	23145	broad.mit.edu	37	7	149489043	149489043	+	RNA	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:149489043G>A	ENST00000378016.2	+	0	5384							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GGCCTGCACAGCACCCGCCAG	0.657													11	26					0	0	1	0	0	A	149489043	G	A	149489043	1	1	81	0	1	0	0	0	0	0	0	0	15245	971	34	2		2	SSPO	7	149489043	RNA	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2637	149489043	9649620	6496	10112											
SSPO	23145	broad.mit.edu	37	7	149500075	149500075	+	RNA	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:149500075C>T	ENST00000378016.2	+	0	7701							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GGGGACCCTGCAGCGTCTCCT	0.672													3	7					0	0	1	0	0	T	149500075	C	T	149500075	1	4	81	0	1	0	0	0	0	0	0	0	15245	718	25	2		2	SSPO	7	149500075	RNA	SNP	C	TCGA-DU-6392-01A-11D-1705-08	11032	149500075	9638588	6497	10113											
SSPO	23145	broad.mit.edu	37	7	149508800	149508800	+	RNA	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:149508800C>T	ENST00000378016.2	+	0	9539							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			TGGCCTTGTGCGGAGGGTAAG	0.642													49	37					0	0	1	0	0	T	149508800	C	T	149508800	1	4	81	0	1	0	0	0	0	0	0	0	15245	768	27	1		1	SSPO	7	149508800	RNA	SNP	C	TCGA-DU-6392-01A-11D-1705-08	8725	149508800	9629863	6498	10114											
SSPO	23145	broad.mit.edu	37	7	149509032	149509032	+	RNA	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:149509032G>A	ENST00000378016.2	+	0	9578							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			ACCCCTTGGAGCCAGTGTTCA	0.682													9	40					0	0	1	0	0	A	149509032	G	A	149509032	1	1	81	0	1	0	0	0	0	0	0	0	15245	971	34	2		2	SSPO	7	149509032	RNA	SNP	G	TCGA-DU-6392-01A-11D-1705-08	232	149509032	9629631	6499	10115											
SSPO	23145	broad.mit.edu	37	7	149519666	149519666	+	RNA	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:149519666C>T	ENST00000378016.2	+	0	13156							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GGTGCAGCAGCGCTACCGACA	0.697													13	6					0	0	1	0	0	T	149519666	C	T	149519666	1	4	81	0	1	0	0	0	0	0	0	0	15245	768	27	1		1	SSPO	7	149519666	RNA	SNP	C	TCGA-DU-6392-01A-11D-1705-08	10634	149519666	9618997	6500	10116											
ZNF775	285971	broad.mit.edu	37	7	150094418	150094418	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:150094418C>T	ENST00000329630.5	+	3	956	c.849C>T	c.(847-849)tgC>tgT	p.C283C		NM_173680.3	NP_775951.2	Q96BV0	ZN775_HUMAN	zinc finger protein 775	283					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(7)|skin(1)	11	Ovarian(565;0.183)|Melanoma(164;0.226)		OV - Ovarian serous cystadenocarcinoma(82;0.0173)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AGTTCATCTGCAACGAGTGTG	0.741													4	25					0	0	1	0	0	T	150094418	C	T	150094418	2	4	81	1	0	0	0	0	0	0	0	1	18197	718	25	2		2	ZNF775	7	150094418	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	574752	150094418	9044245	6501	10117											
GIMAP8	155038	broad.mit.edu	37	7	150174255	150174255	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:150174255T>C	ENST00000307271.3	+	5	1959	c.1385T>C	c.(1384-1386)cTc>cCc	p.L462P		NM_175571.2	NP_783161.1	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	462						endoplasmic reticulum|Golgi apparatus|mitochondrion	GTP binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		CTGGGGAGCCTCGTCTTCACC	0.587													8	83					0	0	1	0	0	C	150174255	T	C	150174255	3	2	81	1	0	0	0	0	1	0	0	0	6427	1551	54	3	1399	3	GIMAP8	7	150174255	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	79837	150174255	8964408	6502	10118											
GIMAP8	155038	broad.mit.edu	37	7	150174764	150174764	+	Missense_Mutation	SNP	G	G	A	rs144516226	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:150174764G>A	ENST00000307271.3	+	5	2468	c.1894G>A	c.(1894-1896)Ggg>Agg	p.G632R		NM_175571.2	NP_783161.1	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	632						endoplasmic reticulum|Golgi apparatus|mitochondrion	GTP binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		TGGGTGGTCCGGGTATCCCCA	0.403													34	108					0	0	1	0	0	A	150174764	G	A	150174764	3	1	81	1	0	0	0	0	1	0	0	0	6427	1116	39	1	1908	1	GIMAP8	7	150174764	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	509	150174764	8963899	6503	10119											
GIMAP4	55303	broad.mit.edu	37	7	150269743	150269743	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:150269743C>T	ENST00000255945.2	+	3	760	c.585C>T	c.(583-585)ggC>ggT	p.G195G	GIMAP4_ENST00000461940.1_Silent_p.G209G|GIMAP4_ENST00000494750.1_3'UTR	NM_018326.2	NP_060796.1	Q9NUV9	GIMA4_HUMAN	GTPase, IMAP family member 4	195							GTP binding			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(82;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AGGCAACAGGCGCTGAGCAGG	0.522													35	99					0	0	1	0	0	T	150269743	C	T	150269743	2	4	81	1	0	0	0	0	0	0	0	1	6423	755	27	1		1	GIMAP4	7	150269743	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	94979	150269743	8868920	6504	10120											
GIMAP4	55303	broad.mit.edu	37	7	150270110	150270110	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:150270110G>A	ENST00000255945.2	+	3	1127	c.952G>A	c.(952-954)Gct>Act	p.A318T	GIMAP4_ENST00000461940.1_Missense_Mutation_p.A332T	NM_018326.2	NP_060796.1	Q9NUV9	GIMA4_HUMAN	GTPase, IMAP family member 4	318							GTP binding			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(82;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GTTACAGATTGCTTCCTTTAT	0.408													31	65					0	0	1	0	0	A	150270110	G	A	150270110	3	1	81	1	0	0	0	0	1	0	0	0	6423	1319	46	2	958	2	GIMAP4	7	150270110	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	367	150270110	8868553	6505	10121											
GIMAP6	474344	broad.mit.edu	37	7	150325355	150325355	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:150325355C>T	ENST00000328902.5	-	3	547	c.331G>A	c.(331-333)Gct>Act	p.A111T	GIMAP6_ENST00000493969.1_Missense_Mutation_p.R36H	NM_001244072.1|NM_024711.5	NP_001231001.1|NP_078987.3	Q6P9H5	GIMA6_HUMAN	GTPase, IMAP family member 6	111							GTP binding			endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TGGCAGATAGCGTCTGCCACC	0.627													6	98					0	0	1	0	0	T	150325355	C	T	150325355	3	4	81	1	0	0	0	0	1	0	0	0	6425	768	27	1	551	1	GIMAP6	7	150325355	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	55245	150325355	8813308	6506	10122											
GIMAP6	474344	broad.mit.edu	37	7	150327221	150327221	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:150327221C>A	ENST00000328902.5	-	2	226	c.10G>T	c.(10-12)Gaa>Taa	p.E4*	GIMAP6_ENST00000493969.1_Nonsense_Mutation_p.E4*	NM_001244072.1|NM_024711.5	NP_001231001.1|NP_078987.3	Q6P9H5	GIMA6_HUMAN	GTPase, IMAP family member 6	4							GTP binding			endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TCATATTCTTCTTCCTCCATC	0.433													18	75					0.000566183	0.000611251	1	1	0	A	150327221	C	A	150327221	4	1	81	1	0	0	0	0	0	1	0	0	6425	922	32	4	876	4	GIMAP6	7	150327221	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1866	150327221	8811442	6507	10123											
GIMAP1	170575	broad.mit.edu	37	7	150417359	150417359	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:150417359C>T	ENST00000307194.5	+	3	407	c.267C>T	c.(265-267)tcC>tcT	p.S89S		NM_130759.3	NP_570115.1			GTPase, IMAP family member 1											NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TTTTCAGCTCCCAAGTGTCCA	0.652													17	52					0	0	1	0	0	T	150417359	C	T	150417359	2	4	81	1	0	0	0	0	0	0	0	1	6421	610	22	2		2	GIMAP1	7	150417359	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	90138	150417359	8721304	6508	10124											
GIMAP1	170575	broad.mit.edu	37	7	150417510	150417510	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:150417510G>A	ENST00000307194.5	+	3	558	c.418G>A	c.(418-420)Ggg>Agg	p.G140R		NM_130759.3	NP_570115.1			GTPase, IMAP family member 1											NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GGACATGTTCGGGGAGGACGT	0.652													35	30					0	0	1	0	0	A	150417510	G	A	150417510	3	1	81	1	0	0	0	0	1	0	0	0	6421	1116	39	1	424	1	GIMAP1	7	150417510	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	151	150417510	8721153	6509	10125											
GIMAP5	55340	broad.mit.edu	37	7	150439967	150439967	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:150439967C>T	ENST00000358647.3	+	3	1107	c.740C>T	c.(739-741)gCc>gTc	p.A247V	GIMAP5_ENST00000479556.1_3'UTR	NM_018384.4	NP_060854.2			GTPase, IMAP family member 5											central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|urinary_tract(2)	19			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CAGTACCAGGCCAAAGTGGAA	0.552													45	39					0	0	1	0	0	T	150439967	C	T	150439967	3	4	81	1	0	0	0	0	1	0	0	0	6424	739	26	2	746	2	GIMAP5	7	150439967	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	22457	150439967	8698696	6510	10126											
TMEM176B	28959	broad.mit.edu	37	7	150490258	150490258	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:150490258G>A	ENST00000447204.2	-	5	890	c.518C>T	c.(517-519)aCc>aTc	p.T173I	TMEM176B_ENST00000450753.2_Missense_Mutation_p.T136I|TMEM176B_ENST00000492607.1_Missense_Mutation_p.T173I|TMEM176B_ENST00000429904.2_Missense_Mutation_p.T173I|TMEM176B_ENST00000326442.5_Missense_Mutation_p.T173I|TMEM176B_ENST00000434545.1_Missense_Mutation_p.T173I	NM_014020.3	NP_054739.3	Q3YBM2	T176B_HUMAN	transmembrane protein 176B	173					cell differentiation|organ morphogenesis	integral to membrane|nuclear membrane				cervix(1)|large_intestine(4)|lung(10)|ovary(1)|skin(3)	19			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GTACCCAGTGGTAGGGAAGAC	0.507													49	45					0	0	1	0	0	A	150490258	G	A	150490258	3	1	81	1	0	0	0	0	1	0	0	0	16153	1261	44	2	306	2	TMEM176B	7	150490258	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	50291	150490258	8648405	6511	10127											
TMEM176B	28959	broad.mit.edu	37	7	150490279	150490279	+	Missense_Mutation	SNP	C	C	T	rs144557912		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:150490279C>T	ENST00000447204.2	-	5	869	c.497G>A	c.(496-498)cGc>cAc	p.R166H	TMEM176B_ENST00000450753.2_Missense_Mutation_p.R129H|TMEM176B_ENST00000492607.1_Missense_Mutation_p.R166H|TMEM176B_ENST00000429904.2_Missense_Mutation_p.R166H|TMEM176B_ENST00000326442.5_Missense_Mutation_p.R166H|TMEM176B_ENST00000434545.1_Missense_Mutation_p.R166H	NM_014020.3	NP_054739.3	Q3YBM2	T176B_HUMAN	transmembrane protein 176B	166					cell differentiation|organ morphogenesis	integral to membrane|nuclear membrane				cervix(1)|large_intestine(4)|lung(10)|ovary(1)|skin(3)	19			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AGGGTCTGAGCGATCACACAC	0.507													46	41					0	0	1	0	0	T	150490279	C	T	150490279	3	4	81	1	0	0	0	0	1	0	0	0	16153	768	27	1	327	1	TMEM176B	7	150490279	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	21	150490279	8648384	6512	10128											
KCNH2	3757	broad.mit.edu	37	7	150649611	150649611	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:150649611C>T	ENST00000392968.2	-	4	2291	c.1171G>A	c.(1171-1173)Ggc>Agc	p.G391S	KCNH2_ENST00000330883.4_Missense_Mutation_p.G147S|KCNH2_ENST00000262186.5_Missense_Mutation_p.G487S|KCNH2_ENST00000430723.3_Missense_Mutation_p.G487S			Q12809	KCNH2_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 2	487					blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661)	GCGATGCGGCCGGGGTGGCTG	0.587													11	56					0	0	1	0	0	T	150649611	C	T	150649611	3	4	81	1	0	0	0	0	1	0	0	0	8076	652	23	1	2329	1	KCNH2	7	150649611	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	159332	150649611	8489052	6513	10129											
KCNH2	3757	broad.mit.edu	37	7	150656821	150656821	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:150656821C>A	ENST00000392968.2	-	1	1143	c.23G>T	c.(22-24)aGc>aTc	p.S8I	KCNH2_ENST00000262186.5_Missense_Mutation_p.S104I|KCNH2_ENST00000430723.3_Missense_Mutation_p.S104I			Q12809	KCNH2_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 2	104					blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661)	TAGGAAGCAGCTCCCTGCAGA	0.582													8	26					1.06961e-07	1.25755e-07	1	1	0	A	150656821	C	A	150656821	3	1	81	1	0	0	0	0	1	0	0	0	8076	797	28	4	3601	4	KCNH2	7	150656821	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	7210	150656821	8481842	6514	10130											
NOS3	4846	broad.mit.edu	37	7	150698337	150698337	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:150698337G>A	ENST00000297494.3	+	11	1609	c.1252G>A	c.(1252-1254)Gtg>Atg	p.V418M	NOS3_ENST00000467517.1_Missense_Mutation_p.V418M|NOS3_ENST00000484524.1_Missense_Mutation_p.V418M|NOS3_ENST00000461406.1_Missense_Mutation_p.V212M	NM_000603.4	NP_000594.2	P29474	NOS3_HUMAN	nitric oxide synthase 3 (endothelial cell)	418	Interaction with NOSIP.				anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	caveola|cytoskeleton|cytosol|Golgi membrane	actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)	AGTCACCATCGTGGACCACCA	0.637													70	57					0	0	1	0	0	A	150698337	G	A	150698337	3	1	81	1	0	0	0	0	1	0	0	0	10591	1145	40	1	1290	1	NOS3	7	150698337	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	41516	150698337	8440326	6515	10131											
NOS3	4846	broad.mit.edu	37	7	150706122	150706122	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:150706122C>A	ENST00000297494.3	+	18	2574	c.2217C>A	c.(2215-2217)gcC>gcA	p.A739A	NOS3_ENST00000461406.1_Silent_p.A533A	NM_000603.4	NP_000594.2	P29474	NOS3_HUMAN	nitric oxide synthase 3 (endothelial cell)	739					anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	caveola|cytoskeleton|cytosol|Golgi membrane	actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)	GGCTGAGCGCCCAGGCCGAGG	0.672											OREG0018442	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	18	17					4.35082e-09	5.22652e-09	1	1	0	A	150706122	C	A	150706122	2	1	81	1	0	0	0	0	0	0	0	1	10591	610	22	5		5	NOS3	7	150706122	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	7785	150706122	8432541	6516	10132											
NOS3	4846	broad.mit.edu	37	7	150710953	150710953	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:150710953A>G	ENST00000297494.3	+	26	3754	c.3397A>G	c.(3397-3399)Acg>Gcg	p.T1133A	NOS3_ENST00000477227.1_3'UTR|ATG9B_ENST00000605938.1_3'UTR|ATG9B_ENST00000444312.1_3'UTR|ATG9B_ENST00000494791.1_5'UTR|NOS3_ENST00000461406.1_Missense_Mutation_p.T927A|ATG9B_ENST00000377974.2_3'UTR	NM_000603.4	NP_000594.2	P29474	NOS3_HUMAN	nitric oxide synthase 3 (endothelial cell)	1133					anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	caveola|cytoskeleton|cytosol|Golgi membrane	actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)	CATCCTGGCGACGGAGGGCGA	0.697													3	5					0	0	1	0	0	G	150710953	A	G	150710953	3	3	81	1	0	0	0	0	1	0	0	0	10591	275	10	3	3777	3	NOS3	7	150710953	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	4831	150710953	8427710	6517	10133											
NOS3	4846	broad.mit.edu	37	7	150711138	150711138	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:150711138C>T	ENST00000297494.3	+	27	3850	c.3493C>T	c.(3493-3495)Cgc>Tgc	p.R1165C	NOS3_ENST00000477227.1_3'UTR|ATG9B_ENST00000605938.1_Intron|ATG9B_ENST00000444312.1_Intron|ATG9B_ENST00000494791.1_Intron|NOS3_ENST00000461406.1_Missense_Mutation_p.R959C|ATG9B_ENST00000377974.2_Intron	NM_000603.4	NP_000594.2	P29474	NOS3_HUMAN	nitric oxide synthase 3 (endothelial cell)	1165					anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	caveola|cytoskeleton|cytosol|Golgi membrane	actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)	GCTCACGCTGCGCACCCAGGA	0.617													17	19					0	0	1	0	0	T	150711138	C	T	150711138	3	4	81	1	0	0	0	0	1	0	0	0	10591	768	27	1	3877	1	NOS3	7	150711138	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	185	150711138	8427525	6518	10134											
ATG9B	285973	broad.mit.edu	37	7	150713794	150713794	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:150713794C>T	ENST00000377974.2	-	11	2477	c.2402G>A	c.(2401-2403)cGa>cAa	p.R801Q	ATG9B_ENST00000605938.1_3'UTR|ATG9B_ENST00000444312.1_Missense_Mutation_p.R287Q|ATG9B_ENST00000494791.1_5'UTR			Q674R7	ATG9B_HUMAN	autophagy related 9B	802					autophagic vacuole assembly	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane				cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(4)|prostate(1)	14	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CTGGGCAATTCGGGAAATGGA	0.662													8	6					0	0	1	0	0	T	150713794	C	T	150713794	3	4	81	1	0	0	0	0	1	0	0	0	1102	893	31	1	385	1	ATG9B	7	150713794	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2656	150713794	8424869	6519	10135											
ATG9B	285973	broad.mit.edu	37	7	150714129	150714129	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:150714129C>T	ENST00000605938.1	-	9	2358	c.2283G>A	c.(2281-2283)tcG>tcA	p.S761S	ATG9B_ENST00000444312.1_Silent_p.S247S|ATG9B_ENST00000494791.1_5'UTR|ATG9B_ENST00000377974.2_Silent_p.S761S	NM_173681.5	NP_775952.4	Q674R7	ATG9B_HUMAN	autophagy related 9B	761					autophagic vacuole assembly	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane				cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(4)|prostate(1)	14	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TCACCAGGGGCGAGGTGCAGT	0.652													6	11					0	0	1	0	0	T	150714129	C	T	150714129	2	4	81	1	0	0	0	0	0	0	0	1	1102	755	27	1		1	ATG9B	7	150714129	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	335	150714129	8424534	6520	10136											
ATG9B	285973	broad.mit.edu	37	7	150714325	150714325	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:150714325G>T	ENST00000605938.1	-	9	2162	c.2087C>A	c.(2086-2088)tCt>tAt	p.S696Y	ATG9B_ENST00000444312.1_Missense_Mutation_p.S182Y|ATG9B_ENST00000494791.1_5'UTR|ATG9B_ENST00000377974.2_Missense_Mutation_p.S696Y	NM_173681.5	NP_775952.4	Q674R7	ATG9B_HUMAN	autophagy related 9B	696					autophagic vacuole assembly	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane				cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(4)|prostate(1)	14	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CGCACGCTGAGACAGCGAGGC	0.592													13	14					9.31168e-06	1.05369e-05	1	1	0	T	150714325	G	T	150714325	3	4	81	1	0	0	0	0	1	0	0	0	1102	942	33	4	706	4	ATG9B	7	150714325	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	196	150714325	8424338	6521	10137											
ABCB8	11194	broad.mit.edu	37	7	150739132	150739132	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:150739132G>A	ENST00000358849.4	+	14	1795	c.1702G>A	c.(1702-1704)Gcc>Acc	p.A568T	ABCB8_ENST00000542328.1_Missense_Mutation_p.A480T|ABCB8_ENST00000297504.6_Missense_Mutation_p.A585T|ABCB8_ENST00000356058.4_3'UTR|ABCB8_ENST00000498578.1_Missense_Mutation_p.A568T	NM_001282291.1|NM_001282293.1|NM_007188.3	NP_001269220.1|NP_001269222.1|NP_009119.2	Q9NUT2	ABCB8_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 8	585	ABC transporter.					ATP-binding cassette (ABC) transporter complex|integral to membrane|membrane fraction|mitochondrial inner membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	26			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GTACACAGCCGCCCGGGAAGC	0.607													25	66					0	0	1	0	0	A	150739132	G	A	150739132	3	1	81	1	0	0	0	0	1	0	0	0	47	1087	38	1	1756	1	ABCB8	7	150739132	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	24807	150739132	8399531	6522	10138											
SLC4A2	6522	broad.mit.edu	37	7	150771489	150771489	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:150771489C>T	ENST00000485713.1	+	18	3834	c.2794C>T	c.(2794-2796)Cgg>Tgg	p.R932W	SLC4A2_ENST00000310317.5_Missense_Mutation_p.R850W|SLC4A2_ENST00000392826.2_Missense_Mutation_p.R923W|SLC4A2_ENST00000461735.1_Missense_Mutation_p.R918W|SLC4A2_ENST00000413384.2_Missense_Mutation_p.R932W	NM_001199692.1	NP_001186621.1	P04920	B3A2_HUMAN	solute carrier family 4 (anion exchanger), member 2	932	Membrane (anion exchange).				bicarbonate transport	integral to membrane|membrane fraction	inorganic anion exchanger activity			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(14)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CACTCAGATCCGGCGGGTGAT	0.602													6	132					0	0	1	0	0	T	150771489	C	T	150771489	3	4	81	1	0	0	0	0	1	0	0	0	14709	643	23	1	2860	1	SLC4A2	7	150771489	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	32357	150771489	8367174	6523	10139											
SLC4A2	6522	broad.mit.edu	37	7	150772400	150772400	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:150772400C>A	ENST00000485713.1	+	20	4146	c.3106C>A	c.(3106-3108)Ctg>Atg	p.L1036M	SLC4A2_ENST00000310317.5_Missense_Mutation_p.L954M|SLC4A2_ENST00000392826.2_Missense_Mutation_p.L1027M|SLC4A2_ENST00000461735.1_Missense_Mutation_p.L1022M|SLC4A2_ENST00000413384.2_Missense_Mutation_p.L1036M|RP11-148K1.12_ENST00000485974.1_RNA	NM_001199692.1	NP_001186621.1	P04920	B3A2_HUMAN	solute carrier family 4 (anion exchanger), member 2	1036	Membrane (anion exchange).				bicarbonate transport	integral to membrane|membrane fraction	inorganic anion exchanger activity			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(14)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CCACCTGGACCTGCTGCTCAT	0.647													9	42					1.58986e-06	1.82794e-06	1	1	0	A	150772400	C	A	150772400	3	1	81	1	0	0	0	0	1	0	0	0	14709	680	24	4	3180	4	SLC4A2	7	150772400	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	911	150772400	8366263	6524	10140											
AGAP3	116988	broad.mit.edu	37	7	150840969	150840969	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:150840969G>A	ENST00000397238.2	+	18	2675	c.2675G>A	c.(2674-2676)aGa>aAa	p.R892K	AGAP3_ENST00000463381.1_Missense_Mutation_p.R561K	NM_031946.4	NP_114152.3	Q96P47	AGAP3_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 3	856					regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm|membrane	ARF GTPase activator activity|GTP binding|GTPase activity|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1)	28						ACCCCCAACAGAGAGCCTGCC	0.632													47	31					0	0	1	0	0	A	150840969	G	A	150840969	3	1	81	1	0	0	0	0	1	0	0	0	368	942	33	2	2812	2	AGAP3	7	150840969	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	68569	150840969	8297694	6525	10141											
GBX1	2636	broad.mit.edu	37	7	150846052	150846052	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:150846052C>A	ENST00000297537.4	-	2	715	c.716G>T	c.(715-717)aGc>aTc	p.S239I		NM_001098834.1	NP_001092304.1	Q14549	GBX1_HUMAN	gastrulation brain homeobox 1	239						nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|lung(5)|skin(1)	7			OV - Ovarian serous cystadenocarcinoma(82;0.00989)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AGTCCCCAGGCTTCCCTTTAG	0.642													8	200					0.00307968	0.00324365	1	1	0	A	150846052	C	A	150846052	3	1	81	1	0	0	0	0	1	0	0	0	6320	797	28	4	378	4	GBX1	7	150846052	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	5083	150846052	8292611	6526	10142											
ABCF2	10061	broad.mit.edu	37	7	150921061	150921061	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:150921061C>A	ENST00000287844.2	-	4	616	c.507G>T	c.(505-507)cgG>cgT	p.R169R	ABCF2_ENST00000222388.2_Silent_p.R169R	NM_007189.1	NP_009120.1	Q9UG63	ABCF2_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 2	169	ABC transporter 1.					ATP-binding cassette (ABC) transporter complex|mitochondrial envelope	ATP binding|ATPase activity|transporter activity			breast(1)|central_nervous_system(1)|large_intestine(4)|lung(15)|ovary(1)|skin(2)	24			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CCAGCATGGCCCGCTCTGTGT	0.597													5	70					0.00116845	0.00124301	1	1	0	A	150921061	C	A	150921061	2	1	81	1	0	0	0	0	0	0	0	1	66	610	22	5		5	ABCF2	7	150921061	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	75009	150921061	8217602	6527	10143											
ABCF2	10061	broad.mit.edu	37	7	150921997	150921997	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:150921997C>T	ENST00000287844.2	-	3	341	c.232G>A	c.(232-234)Gcc>Acc	p.A78T	ABCF2_ENST00000222388.2_Missense_Mutation_p.A78T	NM_007189.1	NP_009120.1	Q9UG63	ABCF2_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 2	78						ATP-binding cassette (ABC) transporter complex|mitochondrial envelope	ATP binding|ATPase activity|transporter activity			breast(1)|central_nervous_system(1)|large_intestine(4)|lung(15)|ovary(1)|skin(2)	24			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GGGTGAGAGGCCAGGACGCCA	0.483													21	74					0	0	1	0	0	T	150921997	C	T	150921997	3	4	81	1	0	0	0	0	1	0	0	0	66	739	26	2	1732	2	ABCF2	7	150921997	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	936	150921997	8216666	6528	10144											
CHPF2	54480	broad.mit.edu	37	7	150932416	150932416	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:150932416G>T	ENST00000035307.2	+	2	2059	c.546G>T	c.(544-546)caG>caT	p.Q182H	CHPF2_ENST00000495645.1_Missense_Mutation_p.Q174H	NM_019015.1	NP_061888.1	Q9P2E5	CHPF2_HUMAN	chondroitin polymerizing factor 2	182						Golgi cisterna membrane|integral to membrane	N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity			breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(4)|prostate(1)|skin(3)	17						TCATCATGCAGGATGACACAT	0.602													7	132					0.307466	0.308658	1	1	0	T	150932416	G	T	150932416	3	4	81	1	0	0	0	0	1	0	0	0	3391	991	35	4	552	4	CHPF2	7	150932416	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	10419	150932416	8206247	6529	10145											
CHPF2	54480	broad.mit.edu	37	7	150935111	150935111	+	Missense_Mutation	SNP	C	C	T	rs139831103		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:150935111C>T	ENST00000035307.2	+	4	3176	c.1663C>T	c.(1663-1665)Cgg>Tgg	p.R555W	CHPF2_ENST00000495645.1_Missense_Mutation_p.R547W	NM_019015.1	NP_061888.1	Q9P2E5	CHPF2_HUMAN	chondroitin polymerizing factor 2	555						Golgi cisterna membrane|integral to membrane	N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity			breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(4)|prostate(1)|skin(3)	17						GTTAGAGCGACGGTACCCTGG	0.632													17	40					0	0	1	0	0	T	150935111	C	T	150935111	3	4	81	1	0	0	0	0	1	0	0	0	3391	527	19	1	1677	1	CHPF2	7	150935111	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2695	150935111	8203552	6530	10146											
SMARCD3	6604	broad.mit.edu	37	7	150972252	150972252	+	Translation_Start_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:150972252C>A	ENST00000392811.2	-	0	461				SMARCD3_ENST00000356800.2_De_novo_Start_InFrame	NM_003078.3	NP_003069.2	Q6STE5	SMRD3_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 3						cellular lipid metabolic process|chromatin modification|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	nuclear hormone receptor binding|protein binding|transcription coactivator activity|transcription factor binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(6)|ovary(2)	15			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TGGCAGGGTCCTGCACCTGGA	0.652													4	19					0.150653	0.152522	1	1	0	A	150972252	C	A	150972252	1	1	81	1	0	0	0	0	0	0	0	0	14833	696	24	4		4	SMARCD3	7	150972252	Translation_Start_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	37141	150972252	8166411	6531	10147											
NUB1	51667	broad.mit.edu	37	7	151065934	151065934	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:151065934C>T	ENST00000568733.1	+	11	1347	c.1281C>T	c.(1279-1281)aaC>aaT	p.N427N	NUB1_ENST00000355851.4_Silent_p.N403N|NUB1_ENST00000566856.1_Silent_p.N403N|NUB1_ENST00000413040.2_Silent_p.N427N			Q9Y5A7	NUB1_HUMAN	negative regulator of ubiquitin-like proteins 1	403	NEDD8-binding 1.|UBA 2.				positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|response to interferon-gamma|response to tumor necrosis factor|ubiquitin-dependent protein catabolic process	nucleus	protein binding			endometrium(1)|large_intestine(7)|lung(3)	11			OV - Ovarian serous cystadenocarcinoma(82;0.00569)	UCEC - Uterine corpus endometrioid carcinoma (81;0.172)		GTGATGGGAACGTGGATCATG	0.473													29	76					0	0	1	0	0	T	151065934	C	T	151065934	2	4	81	1	0	0	0	0	0	0	0	1	10762	535	19	1		1	NUB1	7	151065934	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	93682	151065934	8072729	6532	10148											
CRYGN	155051	broad.mit.edu	37	7	151133382	151133382	+	Silent	SNP	G	G	A	rs113942095	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:151133382G>A	ENST00000337323.2	-	3	426	c.300C>T	c.(298-300)ttC>ttT	p.F100F	CRYGN_ENST00000491928.1_Intron|RP4-555L14.4_ENST00000465549.1_RNA|CRYGN_ENST00000476631.1_5'UTR	NM_144727.1	NP_653328.1	Q8WXF5	CRGN_HUMAN	crystallin, gamma N	100	Beta/gamma crystallin 'Greek key' 3.									central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(1)|lung(4)	8			OV - Ovarian serous cystadenocarcinoma(82;0.00358)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TGCAACCCTCGAAGATTTCTA	0.537													19	47					0	0	1	0	0	A	151133382	G	A	151133382	2	1	81	1	0	0	0	0	0	0	0	1	3941	1049	37	1		1	CRYGN	7	151133382	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	67448	151133382	8005281	6533	10149											
PRKAG2	51422	broad.mit.edu	37	7	151265822	151265822	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:151265822G>T	ENST00000287878.4	-	11	1717	c.1213C>A	c.(1213-1215)Ctc>Atc	p.L405I	PRKAG2_ENST00000433631.2_Missense_Mutation_p.L280I|PRKAG2_ENST00000418337.2_Missense_Mutation_p.L164I|PRKAG2_ENST00000492843.1_Missense_Mutation_p.L281I|PRKAG2_ENST00000392801.2_Missense_Mutation_p.L361I	NM_016203.3	NP_057287.2	Q9UGJ0	AAKG2_HUMAN	protein kinase, AMP-activated, gamma 2 non-catalytic subunit	405	CBS 2.				ATP biosynthetic process|carnitine shuttle|cell cycle arrest|fatty acid biosynthetic process|glycogen metabolic process|insulin receptor signaling pathway|intracellular protein kinase cascade|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein kinase activity|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation|regulation of glucose import|regulation of glycolysis|sterol biosynthetic process	AMP-activated protein kinase complex|cytosol|nucleoplasm	ADP binding|ATP binding|cAMP-dependent protein kinase inhibitor activity|cAMP-dependent protein kinase regulator activity|phosphorylase kinase regulator activity|protein kinase activator activity|protein kinase binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|upper_aerodigestive_tract(1)	26	all_neural(206;0.187)	all_hematologic(28;0.0605)	OV - Ovarian serous cystadenocarcinoma(82;0.00252)	UCEC - Uterine corpus endometrioid carcinoma (81;0.185)		AGGAACTTGAGGATTCTTTTG	0.343													6	76					0.00116845	0.00124301	1	1	0	T	151265822	G	T	151265822	3	4	81	1	0	0	0	0	1	0	0	0	12553	1000	35	4	520	4	PRKAG2	7	151265822	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	132440	151265822	7872841	6534	10150											
GALNT11	63917	broad.mit.edu	37	7	151805282	151805282	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:151805282G>A	ENST00000434507.1	+	8	1309	c.872G>A	c.(871-873)cGc>cAc	p.R291H	GALNT11_ENST00000422997.2_3'UTR|GALNT11_ENST00000430044.2_Missense_Mutation_p.R291H|GALNT11_ENST00000452146.2_Missense_Mutation_p.R210H|GALNT11_ENST00000320311.2_Missense_Mutation_p.R291H			Q8NCW6	GLT11_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 11 (GalNAc-T11)	291						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|prostate(5)|skin(2)	27	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.214)	OV - Ovarian serous cystadenocarcinoma(82;0.00168)	UCEC - Uterine corpus endometrioid carcinoma (81;0.177)|BRCA - Breast invasive adenocarcinoma(188;0.0932)		CCTGTCGTCCGCGGAGGGTTC	0.602													5	68					0	0	1	0	0	A	151805282	G	A	151805282	3	1	81	1	0	0	0	0	1	0	0	0	6249	1087	38	1	890	1	GALNT11	7	151805282	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	539460	151805282	7333381	6535	10151											
GALNT11	63917	broad.mit.edu	37	7	151807673	151807673	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:151807673A>G	ENST00000434507.1	+	9	1460	c.1023A>G	c.(1021-1023)ggA>ggG	p.G341G	GALNT11_ENST00000430044.2_Silent_p.G341G|GALNT11_ENST00000452146.2_Silent_p.G260G|GALNT11_ENST00000320311.2_Silent_p.G341G			Q8NCW6	GLT11_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 11 (GalNAc-T11)	341	Catalytic subdomain B.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|prostate(5)|skin(2)	27	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.214)	OV - Ovarian serous cystadenocarcinoma(82;0.00168)	UCEC - Uterine corpus endometrioid carcinoma (81;0.177)|BRCA - Breast invasive adenocarcinoma(188;0.0932)		ATGAACTTGGACAGTATGATA	0.368													168	131					0	0	1	0	0	G	151807673	A	G	151807673	2	3	81	1	0	0	0	0	0	0	0	1	6249	262	10	3		3	GALNT11	7	151807673	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	2391	151807673	7330990	6536	10152											
XRCC2	7516	broad.mit.edu	37	7	152346195	152346195	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:152346195G>A	ENST00000359321.1	-	3	460	c.375C>T	c.(373-375)caC>caT	p.H125H	XRCC2_ENST00000495707.1_5'UTR	NM_005431.1	NP_005422.1	O43543	XRCC2_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 2	125					meiosis	nucleus	ATP binding|DNA binding|DNA-dependent ATPase activity			NS(1)|breast(1)|large_intestine(5)|liver(1)|lung(1)|prostate(2)	11		all_hematologic(28;0.0592)|Prostate(32;0.081)	OV - Ovarian serous cystadenocarcinoma(82;0.0423)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0429)		TAAGAAGTAAGTGGGTGCTAC	0.388								Homologous recombination					49	38					0	0	1	0	0	A	152346195	G	A	152346195	2	1	81	1	0	0	0	0	0	0	0	1	17513	1020	36	2		2	XRCC2	7	152346195	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	538522	152346195	6792468	6537	10153											
XRCC2	7516	broad.mit.edu	37	7	152357857	152357857	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:152357857C>T	ENST00000359321.1	-	2	135	c.50G>A	c.(49-51)cGa>cAa	p.R17Q	XRCC2_ENST00000495707.1_5'UTR	NM_005431.1	NP_005422.1	O43543	XRCC2_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 2	17					meiosis	nucleus	ATP binding|DNA binding|DNA-dependent ATPase activity			NS(1)|breast(1)|large_intestine(5)|liver(1)|lung(1)|prostate(2)	11		all_hematologic(28;0.0592)|Prostate(32;0.081)	OV - Ovarian serous cystadenocarcinoma(82;0.0423)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0429)		ACCTTCAAGTCGGGCAAGGAG	0.308								Homologous recombination					33	48					0	0	1	0	0	T	152357857	C	T	152357857	3	4	81	1	0	0	0	0	1	0	0	0	17513	884	31	1	800	1	XRCC2	7	152357857	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	11662	152357857	6780806	6538	10154											
ACTR3B	57180	broad.mit.edu	37	7	152517446	152517446	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:152517446G>A	ENST00000256001.8	+	7	737	c.603G>A	c.(601-603)acG>acA	p.T201T	ACTR3B_ENST00000537264.1_Silent_p.T113T|ACTR3B_ENST00000397282.2_Silent_p.T113T|ACTR3B_ENST00000377776.3_Silent_p.T201T	NM_020445.5	NP_065178.1	Q9P1U1	ARP3B_HUMAN	ARP3 actin-related protein 3 homolog B (yeast)	201					regulation of actin filament polymerization	cell projection|cytoplasm|cytoskeleton	actin binding|ATP binding			breast(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	13		all_hematologic(28;0.0592)|Prostate(32;0.191)	OV - Ovarian serous cystadenocarcinoma(82;0.0287)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0434)		GAGATATTACGTATTTCATTC	0.468													4	30					0	0	1	0	0	A	152517446	G	A	152517446	2	1	81	1	0	0	0	0	0	0	0	1	213	1132	40	1		1	ACTR3B	7	152517446	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	159589	152517446	6621217	6539	10155											
DPP6	1804	broad.mit.edu	37	7	154143357	154143357	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:154143357T>C	ENST00000404039.1	+	2	697	c.110T>C	c.(109-111)cTt>cCt	p.L37P	DPP6_ENST00000496611.1_3'UTR|DPP6_ENST00000427557.1_Missense_Mutation_p.L39P|DPP6_ENST00000332007.3_Missense_Mutation_p.L39P|DPP6_ENST00000406326.1_Missense_Mutation_p.L101P|DPP6_ENST00000377770.3_Missense_Mutation_p.L101P	NM_001039350.1|NM_001936.3|NM_130797.2	NP_001034439.1|NP_001927.3|NP_570629.2	P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	101					cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			ATTGCACTGCTTGTCATTCTG	0.458													48	45					0	0	1	0	0	C	154143357	T	C	154143357	3	2	81	1	0	0	0	0	1	0	0	0	4756	1609	56	3	424	3	DPP6	7	154143357	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	1625911	154143357	4995306	6540	10156											
DPP6	1804	broad.mit.edu	37	7	154172024	154172024	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:154172024C>T	ENST00000404039.1	+	3	754	c.167C>T	c.(166-168)gCg>gTg	p.A56V	DPP6_ENST00000496611.1_3'UTR|DPP6_ENST00000427557.1_Splice_Site_p.A58V|DPP6_ENST00000332007.3_Splice_Site_p.A58V|DPP6_ENST00000406326.1_Splice_Site_p.A120V|DPP6_ENST00000377770.3_Splice_Site_p.A120V	NM_001039350.1|NM_001936.3|NM_130797.2	NP_001034439.1|NP_001927.3|NP_570629.2	P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	120					cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			TTTTTTCTAGCGGAAGATAAT	0.343													10	48					0	0	1	0	0	T	154172024	C	T	154172024	5	4	81	1	0	0	0	0	0	0	1	0	4756	782	27	1	485	1	DPP6	7	154172024	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	28667	154172024	4966639	6541	10157											
PAXIP1	22976	broad.mit.edu	37	7	154767645	154767645	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:154767645G>A	ENST00000404141.1	-	6	989	c.835C>T	c.(835-837)Cgc>Tgc	p.R279C	PAXIP1_ENST00000473219.1_5'UTR|PAXIP1_ENST00000397192.1_Missense_Mutation_p.R279C			Q6ZW49	PAXI1_HUMAN	PAX interacting (with transcription-activation domain) protein 1	279					DNA damage response, signal transduction by p53 class mediator|DNA recombination|DNA repair|histone H3-K4 methylation|positive regulation of histone acetylation|positive regulation of histone H3-K36 methylation|positive regulation of histone H3-K4 methylation|positive regulation of isotype switching|positive regulation of protein ubiquitination|positive regulation of transcription initiation from RNA polymerase II promoter|response to ionizing radiation|transcription, DNA-dependent	histone methyltransferase complex|nuclear matrix				NS(1)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	33	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0296)	UCEC - Uterine corpus endometrioid carcinoma (81;0.178)		GGCAGCCTGCGTTTTGCTGCA	0.498													16	23					0	0	1	0	0	A	154767645	G	A	154767645	3	1	81	1	0	0	0	0	1	0	0	0	11534	1145	40	1	2438	1	PAXIP1	7	154767645	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	595621	154767645	4371018	6542	10158											
HTR5A	3361	broad.mit.edu	37	7	154863181	154863181	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:154863181A>G	ENST00000287907.2	+	1	1148	c.572A>G	c.(571-573)gAg>gGg	p.E191G	HTR5A-AS1_ENST00000395731.2_5'UTR|HTR5A-AS1_ENST00000493904.1_5'UTR|HTR5A-AS1_ENST00000543018.1_5'UTR	NM_024012.3	NP_076917.1	P47898	5HT5A_HUMAN	5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled	191						integral to plasma membrane	serotonin receptor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)		GGCAGCGAGGAGTGCCAGGTA	0.607													7	31					0	0	1	0	0	G	154863181	A	G	154863181	3	3	81	1	0	0	0	0	1	0	0	0	7494	304	11	3	574	3	HTR5A	7	154863181	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	95536	154863181	4275482	6543	10159											
HTR5A	3361	broad.mit.edu	37	7	154863210	154863210	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:154863210G>A	ENST00000287907.2	+	1	1177	c.601G>A	c.(601-603)Gcc>Acc	p.A201T	HTR5A-AS1_ENST00000395731.2_5'UTR|HTR5A-AS1_ENST00000493904.1_5'UTR|HTR5A-AS1_ENST00000543018.1_5'UTR	NM_024012.3	NP_076917.1	P47898	5HT5A_HUMAN	5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled	201						integral to plasma membrane	serotonin receptor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)		GCCTTCCTACGCCGTGTTCTC	0.612													9	26					0	0	1	0	0	A	154863210	G	A	154863210	3	1	81	1	0	0	0	0	1	0	0	0	7494	1087	38	1	603	1	HTR5A	7	154863210	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	29	154863210	4275453	6544	10160											
CNPY1	285888	broad.mit.edu	37	7	155301617	155301617	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:155301617G>A	ENST00000321736.5	-	2	278	c.116C>T	c.(115-117)tCt>tTt	p.S39F	CNPY1_ENST00000406197.1_Missense_Mutation_p.S39F	NM_001103176.1	NP_001096646.1	Q3B7I2	CNPY1_HUMAN	canopy FGF signaling regulator 1	39										breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)	8	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)		GTAAGCATCAGAATAAAAATA	0.368													57	40					0	0	1	0	0	A	155301617	G	A	155301617	3	1	81	1	0	0	0	0	1	0	0	0	3650	942	33	2	174	2	CNPY1	7	155301617	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	438407	155301617	3837046	6545	10161											
RNF32	140545	broad.mit.edu	37	7	156468554	156468554	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:156468554G>A	ENST00000405335.1	+	9	1258	c.849G>A	c.(847-849)gtG>gtA	p.V283V	RNF32_ENST00000432459.2_Silent_p.V283V|RNF32_ENST00000343665.4_Silent_p.V259V|RNF32_ENST00000392743.2_Silent_p.V283V|LMBR1_ENST00000430825.2_Intron|RNF32_ENST00000317955.5_Silent_p.V283V|RNF32_ENST00000311822.8_Silent_p.V283V			Q9H0A6	RNF32_HUMAN	ring finger protein 32	283						aggresome|endosome	protein binding|zinc ion binding			cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(2)	15	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00291)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		AAATCCAAGTGCAGGTAGGTT	0.527													18	52					0	0	1	0	0	A	156468554	G	A	156468554	2	1	81	1	0	0	0	0	0	0	0	1	13540	1306	46	2		2	RNF32	7	156468554	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1166937	156468554	2670109	6546	10162											
RNF32	140545	broad.mit.edu	37	7	156469001	156469001	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:156469001G>A	ENST00000311822.8	+	9	1019	c.865G>A	c.(865-867)Gca>Aca	p.A289T	RNF32_ENST00000432459.2_Intron|RNF32_ENST00000343665.4_Intron|RNF32_ENST00000392743.2_Intron|RNF32_ENST00000405335.1_Intron|LMBR1_ENST00000430825.2_Intron|RNF32_ENST00000317955.5_Intron			Q9H0A6	RNF32_HUMAN	ring finger protein 32	292						aggresome|endosome	protein binding|zinc ion binding			cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(2)	15	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00291)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		TGAAACTTCCGCATGTTTCGA	0.398													11	5					0	0	1	0	0	A	156469001	G	A	156469001	3	1	81	1	0	0	0	0	1	0	0	0	13540	1102	38	1		1	RNF32	7	156469001	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	447	156469001	2669662	6547	10163											
LMBR1	64327	broad.mit.edu	37	7	156549115	156549115	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:156549115C>A	ENST00000353442.5	-	9	965	c.729G>T	c.(727-729)gaG>gaT	p.E243D	LMBR1_ENST00000540390.1_Missense_Mutation_p.E222D|LMBR1_ENST00000359422.4_Missense_Mutation_p.E91D|LMBR1_ENST00000354505.4_Missense_Mutation_p.E243D	NM_022458.3	NP_071903.2	Q8WVP7	LMBR1_HUMAN	limb development membrane protein 1							integral to membrane	receptor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	18	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.208)		GTGCTTCTTCCTCTAAGGTAA	0.269													25	107					2.48779e-11	3.08063e-11	1	1	0	A	156549115	C	A	156549115	3	1	81	1	0	0	0	0	1	0	0	0	8881	680	24	4	779	4	LMBR1	7	156549115	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	80114	156549115	2589548	6548	10164											
LMBR1	64327	broad.mit.edu	37	7	156555833	156555833	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:156555833A>G	ENST00000353442.5	-	7	824	c.588T>C	c.(586-588)tgT>tgC	p.C196C	LMBR1_ENST00000540390.1_Silent_p.C175C|LMBR1_ENST00000359422.4_Silent_p.C44C|LMBR1_ENST00000354505.4_Silent_p.C196C	NM_022458.3	NP_071903.2	Q8WVP7	LMBR1_HUMAN	limb development membrane protein 1							integral to membrane	receptor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	18	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.208)		TCAATGATATACAGGAATATA	0.294													4	40					0	0	1	0	0	G	156555833	A	G	156555833	2	3	81	1	0	0	0	0	0	0	0	1	8881	389	14	3		3	LMBR1	7	156555833	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	6718	156555833	2582830	6549	10165											
NOM1	64434	broad.mit.edu	37	7	156743262	156743262	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:156743262A>C	ENST00000275820.3	+	1	846	c.831A>C	c.(829-831)gaA>gaC	p.E277D		NM_138400.1	NP_612409.1	Q5C9Z4	NOM1_HUMAN	nucleolar protein with MIF4G domain 1	277	Glu-rich.				RNA metabolic process	nucleolus	protein binding			endometrium(5)|kidney(4)|large_intestine(9)|lung(7)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	31	Ovarian(565;0.218)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		aggaagcagaagcgcagagcg	0.542													9	8					0	0	1	0	0	C	156743262	A	C	156743262	3	2	81	1	0	0	0	0	1	0	0	0	10577	69	3	5	833	5	NOM1	7	156743262	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	187429	156743262	2395401	6550	10166											
UBE3C	9690	broad.mit.edu	37	7	156994433	156994433	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:156994433C>A	ENST00000348165.5	+	11	1710	c.1350C>A	c.(1348-1350)gcC>gcA	p.A450A		NM_014671.2	NP_055486.2	Q15386	UBE3C_HUMAN	ubiquitin protein ligase E3C	450					protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity			central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1)	63		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)		ACAGTTTAGCCTTTAATGCCA	0.308													32	101					6.90743e-12	8.5981e-12	1	1	0	A	156994433	C	A	156994433	2	1	81	1	0	0	0	0	0	0	0	1	16942	668	24	4		4	UBE3C	7	156994433	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	251171	156994433	2144230	6551	10167											
UBE3C	9690	broad.mit.edu	37	7	157041083	157041083	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:157041083G>A	ENST00000348165.5	+	19	2863	c.2503G>A	c.(2503-2505)Gtg>Atg	p.V835M		NM_014671.2	NP_055486.2	Q15386	UBE3C_HUMAN	ubiquitin protein ligase E3C	835	HECT.				protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity			central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1)	63		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)		GAACATGCTGGTGGAGCTGCC	0.473													35	84					0	0	1	0	0	A	157041083	G	A	157041083	3	1	81	1	0	0	0	0	1	0	0	0	16942	1261	44	2	2577	2	UBE3C	7	157041083	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	46650	157041083	2097580	6552	10168											
PTPRN2	5799	broad.mit.edu	37	7	157370773	157370773	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:157370773G>A	ENST00000389413.3	-	17	2572	c.2469C>T	c.(2467-2469)ggC>ggT	p.G823G	PTPRN2_ENST00000389416.4_Silent_p.G835G|PTPRN2_ENST00000409483.1_Silent_p.G814G|PTPRN2_ENST00000389418.4_Silent_p.G852G|PTPRN2_ENST00000404321.2_Silent_p.G875G	NM_130843.2	NP_570858.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	852	Tyrosine-protein phosphatase.					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		ACTGCCGGACGCCGTTCTCCG	0.632													35	28					0	0	1	0	0	A	157370773	G	A	157370773	2	1	81	1	0	0	0	0	0	0	0	1	12860	1074	38	1		1	PTPRN2	7	157370773	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	329690	157370773	1767890	6553	10169											
PTPRN2	5799	broad.mit.edu	37	7	157370803	157370803	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:157370803G>A	ENST00000389413.3	-	17	2542	c.2439C>T	c.(2437-2439)atC>atT	p.I813I	PTPRN2_ENST00000389416.4_Silent_p.I825I|PTPRN2_ENST00000409483.1_Silent_p.I804I|PTPRN2_ENST00000389418.4_Silent_p.I842I|PTPRN2_ENST00000404321.2_Silent_p.I865I	NM_130843.2	NP_570858.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	842	Tyrosine-protein phosphatase.					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		TCAGCATGACGATCACCACGC	0.592													40	29					0	0	1	0	0	A	157370803	G	A	157370803	2	1	81	1	0	0	0	0	0	0	0	1	12860	1048	37	1		1	PTPRN2	7	157370803	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	30	157370803	1767860	6554	10170											
NCAPG2	54892	broad.mit.edu	37	7	158455046	158455046	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:158455046G>A	ENST00000409339.3	-	16	1942	c.1829C>T	c.(1828-1830)aCa>aTa	p.T610I	NCAPG2_ENST00000356309.3_Missense_Mutation_p.T610I|NCAPG2_ENST00000275830.10_Missense_Mutation_p.T402I|NCAPG2_ENST00000409423.1_Missense_Mutation_p.T610I|NCAPG2_ENST00000541468.1_Missense_Mutation_p.T111I|NCAPG2_ENST00000449727.2_Missense_Mutation_p.T610I	NM_001281933.1	NP_001268862.1	Q86XI2	CNDG2_HUMAN	non-SMC condensin II complex, subunit G2	610					cell division|chromosome condensation|mitosis	nucleus	methylated histone residue binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	39	Ovarian(565;0.152)	all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18)		TACTGACAGTGTTTTGTCCAG	0.343													9	89					0	0	1	0	0	A	158455046	G	A	158455046	3	1	81	1	0	0	0	0	1	0	0	0	10255	1377	48	2	1654	2	NCAPG2	7	158455046	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1084243	158455046	683617	6555	10171											
ESYT2	57488	broad.mit.edu	37	7	158529800	158529800	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:158529800G>A	ENST00000251527.5	-	19	2484	c.2419C>T	c.(2419-2421)Cgg>Tgg	p.R807W	ESYT2_ENST00000435514.2_Missense_Mutation_p.R242W	NM_020728.2	NP_065779.1	A0FGR8	ESYT2_HUMAN	extended synaptotagmin-like protein 2	835	C2 3.					integral to membrane|plasma membrane				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(16)|prostate(2)	32						CTTCCTGACCGCCTCTTGTCT	0.443													6	161					0	0	1	0	0	A	158529800	G	A	158529800	3	1	81	1	0	0	0	0	1	0	0	0	5293	1086	38	1	278	1	ESYT2	7	158529800	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	74754	158529800	608863	6556	10172											
WDR60	55112	broad.mit.edu	37	7	158716267	158716267	+	Silent	SNP	G	G	A	rs141953924	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:158716267G>A	ENST00000407559.3	+	17	2258	c.2100G>A	c.(2098-2100)acG>acA	p.T700T		NM_018051.4	NP_060521.4	Q8WVS4	WDR60_HUMAN	WD repeat domain 60	700										NS(3)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(4)|lung(16)|ovary(2)	35	Ovarian(565;0.152)	all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18)		TTTAGGTCACGTGTTGCTGCT	0.463													22	69					0	0	1	0	0	A	158716267	G	A	158716267	2	1	81	1	0	0	0	0	0	0	0	1	17371	1132	40	1		1	WDR60	7	158716267	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	186467	158716267	422396	6557	10173											
ZNF596	169270	broad.mit.edu	37	8	195916	195916	+	Missense_Mutation	SNP	C	C	T	rs137958651		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:195916C>T	ENST00000398612.1	+	6	1452	c.1069C>T	c.(1069-1071)Cac>Tac	p.H357Y	ZNF596_ENST00000320552.2_Missense_Mutation_p.H287Y|ZNF596_ENST00000308811.4_Missense_Mutation_p.H357Y	NM_001042415.1|NM_001042416.1	NP_001035880.1|NP_001035881.1	Q8TC21	ZN596_HUMAN	zinc finger protein 596	357					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|endometrium(2)|large_intestine(6)|lung(5)	14		all_cancers(2;4.81e-29)|all_epithelial(2;5.03e-19)|Lung NSC(2;8.68e-08)|all_lung(2;1.52e-07)|Ovarian(12;0.00965)|Colorectal(14;0.0367)|all_neural(12;0.0837)|Myeloproliferative disorder(644;0.116)|all_hematologic(2;0.138)|Acute lymphoblastic leukemia(644;0.242)		Epithelial(5;3.77e-18)|all cancers(2;5.2e-17)|OV - Ovarian serous cystadenocarcinoma(5;5.37e-09)|BRCA - Breast invasive adenocarcinoma(11;1.7e-06)|Colorectal(2;6.51e-05)|READ - Rectum adenocarcinoma(2;0.0276)|COAD - Colon adenocarcinoma(149;0.0702)		TGAGCGAAGTCACAATGGAGA	0.408													15	35					0	0	1	0	0	T	195916	C	T	195916	3	4	81	1	0	0	0	0	1	0	0	0	18083	826	29	2	1087	2	ZNF596	8	195916	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08		195916	146168106	6558	10174											
FBXO25	26260	broad.mit.edu	37	8	381365	381365	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:381365A>G	ENST00000352684.2	+	3	425	c.8A>G	c.(7-9)aAa>aGa	p.K3R	FBXO25_ENST00000276326.5_Silent_p.E53E|FBXO25_ENST00000350302.3_Silent_p.E53E|FBXO25_ENST00000382824.1_Missense_Mutation_p.K3R	NM_012173.3	NP_036305.2	Q8TCJ0	FBX25_HUMAN	F-box protein 25	0	Interaction with beta-actin.					nucleus|SCF ubiquitin ligase complex	actin binding|ubiquitin-protein ligase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	10		Ovarian(12;0.00965)|Colorectal(14;0.0815)|Myeloproliferative disorder(644;0.116)|all_neural(12;0.122)		Epithelial(5;3.14e-14)|OV - Ovarian serous cystadenocarcinoma(5;1.56e-07)|BRCA - Breast invasive adenocarcinoma(11;1.88e-06)		AAGATGGAGAAATATTCAATA	0.269													6	39					0	0	1	0	0	G	381365	A	G	381365	3	3	81	1	0	0	0	0	1	0	0	0	5769	14	1	3	165	3	FBXO25	8	381365	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	185449	381365	145982657	6559	10175											
FBXO25	26260	broad.mit.edu	37	8	418714	418714	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:418714G>T	ENST00000352684.2	+	9	1203		c.e9-1		FBXO25_ENST00000276326.5_Splice_Site|FBXO25_ENST00000350302.3_Splice_Site|FBXO25_ENST00000382824.1_Splice_Site	NM_012173.3	NP_036305.2	Q8TCJ0	FBX25_HUMAN	F-box protein 25							nucleus|SCF ubiquitin ligase complex	actin binding|ubiquitin-protein ligase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	10		Ovarian(12;0.00965)|Colorectal(14;0.0815)|Myeloproliferative disorder(644;0.116)|all_neural(12;0.122)		Epithelial(5;3.14e-14)|OV - Ovarian serous cystadenocarcinoma(5;1.56e-07)|BRCA - Breast invasive adenocarcinoma(11;1.88e-06)		CCTCCCCACAGGACTCAGGAC	0.617													4	12					0.014758	0.0152304	1	1	0	T	418714	G	T	418714	5	4	81	1	0	0	0	0	0	0	1	0	5769	1014	35	4	1052	4	FBXO25	8	418714	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	37349	418714	145945308	6560	10176											
ERICH1	157697	broad.mit.edu	37	8	618675	618675	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:618675G>A	ENST00000262109.7	-	5	1258	c.1181C>T	c.(1180-1182)aCg>aTg	p.T394M	ERICH1_ENST00000522706.1_Missense_Mutation_p.T300M	NM_207332.1	NP_997215.1	Q86X53	ERIC1_HUMAN	glutamate-rich 1	394										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1)	20		Colorectal(14;0.158)|Ovarian(12;0.17)|Myeloproliferative disorder(644;0.185)|Hepatocellular(245;0.236)		Epithelial(5;3.29e-14)|BRCA - Breast invasive adenocarcinoma(11;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(5;3.65e-06)|READ - Rectum adenocarcinoma(1;0.0325)		GAGCAGCAGCGTTTTCATGTG	0.537													24	39					0	0	1	0	0	A	618675	G	A	618675	3	1	81	1	0	0	0	0	1	0	0	0	5258	1145	40	1	158	1	ERICH1	8	618675	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	199961	618675	145745347	6561	10177											
CLN8	2055	broad.mit.edu	37	8	1728703	1728703	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:1728703C>T	ENST00000331222.4	+	3	1078	c.831C>T	c.(829-831)aaC>aaT	p.N277N	CLN8_ENST00000523237.1_3'UTR	NM_018941.3	NP_061764.2	Q9UBY8	CLN8_HUMAN	ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)	277					cell death|ceramide biosynthetic process|cholesterol metabolic process|lipid transport|negative regulation of proteolysis|phospholipid metabolic process	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|integral to membrane				central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24		Ovarian(12;0.0563)|Colorectal(14;0.0815)|Hepatocellular(245;0.0831)		BRCA - Breast invasive adenocarcinoma(11;7.67e-05)|READ - Rectum adenocarcinoma(644;0.0913)		CAGAAGGCAACGGGCAGCTGC	0.592													31	66					0	0	1	0	0	T	1728703	C	T	1728703	2	4	81	1	0	0	0	0	0	0	0	1	3569	535	19	1		1	CLN8	8	1728703	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1110028	1728703	144635319	6562	10178											
ARHGEF10	9639	broad.mit.edu	37	8	1817379	1817379	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:1817379C>T	ENST00000518288.1	+	8	880	c.717C>T	c.(715-717)taC>taT	p.Y239Y	ARHGEF10_ENST00000398564.1_Silent_p.Y239Y|ARHGEF10_ENST00000398560.1_Silent_p.Y239Y|ARHGEF10_ENST00000520359.1_Silent_p.Y215Y|ARHGEF10_ENST00000262112.6_Silent_p.Y239Y|ARHGEF10_ENST00000349830.3_Silent_p.Y214Y			O15013	ARHGA_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10	239					centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis	centrosome|cytosol|soluble fraction	kinesin binding|Rho guanyl-nucleotide exchange factor activity			endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1)	35		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)		AAGCAATTTACGATGACGTTC	0.443													30	46					0	0	1	0	0	T	1817379	C	T	1817379	2	4	81	1	0	0	0	0	0	0	0	1	891	547	19	1		1	ARHGEF10	8	1817379	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	88676	1817379	144546643	6563	10179											
ARHGEF10	9639	broad.mit.edu	37	8	1828318	1828318	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:1828318G>T	ENST00000518288.1	+	10	1186	c.1023G>T	c.(1021-1023)aaG>aaT	p.K341N	ARHGEF10_ENST00000398564.1_Missense_Mutation_p.K341N|ARHGEF10_ENST00000398560.1_Intron|ARHGEF10_ENST00000520359.1_Intron|ARHGEF10_ENST00000262112.6_Missense_Mutation_p.K341N|ARHGEF10_ENST00000349830.3_Missense_Mutation_p.K316N			O15013	ARHGA_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10	341					centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis	centrosome|cytosol|soluble fraction	kinesin binding|Rho guanyl-nucleotide exchange factor activity			endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1)	35		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)		TCAGGCAGAAGCATGAACTGA	0.557													12	22					5.16669e-11	6.3748e-11	1	1	0	T	1828318	G	T	1828318	3	4	81	1	0	0	0	0	1	0	0	0	891	962	34	4	978	4	ARHGEF10	8	1828318	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	10939	1828318	144535704	6564	10180											
ARHGEF10	9639	broad.mit.edu	37	8	1882009	1882009	+	Silent	SNP	C	C	T	rs146918202		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:1882009C>T	ENST00000518288.1	+	27	3358	c.3195C>T	c.(3193-3195)ggC>ggT	p.G1065G	ARHGEF10_ENST00000398564.1_Silent_p.G1066G|ARHGEF10_ENST00000520359.1_Silent_p.G1003G|ARHGEF10_ENST00000262112.6_Silent_p.G1037G|ARHGEF10_ENST00000349830.3_Silent_p.G1041G			O15013	ARHGA_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10	1066					centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis	centrosome|cytosol|soluble fraction	kinesin binding|Rho guanyl-nucleotide exchange factor activity			endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1)	35		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)		TCAAGTTAGGCGTCCTACCAG	0.438													12	99					0	0	1	0	0	T	1882009	C	T	1882009	2	4	81	1	0	0	0	0	0	0	0	1	891	755	27	1		1	ARHGEF10	8	1882009	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	53691	1882009	144482013	6565	10181											
MYOM2	9172	broad.mit.edu	37	8	2007344	2007344	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:2007344G>A	ENST00000262113.4	+	6	772	c.631G>A	c.(631-633)Gta>Ata	p.V211I	MYOM2_ENST00000523438.1_Intron	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	211	Ig-like C2-type 1.				muscle contraction	myosin filament	structural constituent of muscle			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		CAACTATGGCGTACACACACT	0.502													19	19					0	0	1	0	0	A	2007344	G	A	2007344	3	1	81	1	0	0	0	0	1	0	0	0	10140	1145	40	1	649	1	MYOM2	8	2007344	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	125335	2007344	144356678	6566	10182											
MYOM2	9172	broad.mit.edu	37	8	2026940	2026940	+	Missense_Mutation	SNP	C	C	T	rs144104874		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:2026940C>T	ENST00000262113.4	+	12	1529	c.1388C>T	c.(1387-1389)gCg>gTg	p.A463V	MYOM2_ENST00000523438.1_Intron	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	463	Fibronectin type-III 1.				muscle contraction	myosin filament	structural constituent of muscle	p.A463V(1)		autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		GTGAACAGTGCGGGCATCAGC	0.537													8	234					0	0	1	0	0	T	2026940	C	T	2026940	3	4	81	1	0	0	0	0	1	0	0	0	10140	768	27	1	1430	1	MYOM2	8	2026940	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	19596	2026940	144337082	6567	10183											
MYOM2	9172	broad.mit.edu	37	8	2046693	2046693	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:2046693G>A	ENST00000262113.4	+	19	2461	c.2320G>A	c.(2320-2322)Ggc>Agc	p.G774S	MYOM2_ENST00000523438.1_Missense_Mutation_p.G199S	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	774	Fibronectin type-III 4.				muscle contraction	myosin filament	structural constituent of muscle			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		ATAGGTGGACGGCTTGACGGA	0.493													6	9					0	0	1	0	0	A	2046693	G	A	2046693	3	1	81	1	0	0	0	0	1	0	0	0	10140	1116	39	1	2390	1	MYOM2	8	2046693	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	19753	2046693	144317329	6568	10184											
CSMD1	64478	broad.mit.edu	37	8	2876089	2876089	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:2876089T>C	ENST00000602557.1	-	53	8497	c.7942A>G	c.(7942-7944)Acg>Gcg	p.T2648A	CSMD1_ENST00000400186.3_Intron|CSMD1_ENST00000537824.1_Missense_Mutation_p.T2647A|CSMD1_ENST00000542608.1_Intron|CSMD1_ENST00000602723.1_Intron|CSMD1_ENST00000520002.1_Missense_Mutation_p.T2648A			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2648	Sushi 17.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GTGTTGCACGTAAATATAGCT	0.483													5	180					0	0	1	0	0	C	2876089	T	C	2876089	3	2	81	1	0	0	0	0	1	0	0	0	3969	1638	57	3	2831	3	CSMD1	8	2876089	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	829396	2876089	143487933	6569	10185											
CSMD1	64478	broad.mit.edu	37	8	2967741	2967741	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:2967741C>A	ENST00000602557.1	-	44	7105	c.6550G>T	c.(6550-6552)Gga>Tga	p.G2184*	CSMD1_ENST00000400186.3_Nonsense_Mutation_p.G2184*|CSMD1_ENST00000537824.1_Nonsense_Mutation_p.G2183*|CSMD1_ENST00000542608.1_Nonsense_Mutation_p.G2183*|CSMD1_ENST00000602723.1_Nonsense_Mutation_p.G2184*|CSMD1_ENST00000520002.1_Nonsense_Mutation_p.G2184*			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2184	CUB 13.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		ATGTAAACTCCGTGCCCTGGA	0.473													5	10					0.014758	0.0152304	1	1	0	A	2967741	C	A	2967741	4	1	81	1	0	0	0	0	0	1	0	0	3969	661	23	5	4259	5	CSMD1	8	2967741	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	91652	2967741	143396281	6570	10186											
MCPH1	79648	broad.mit.edu	37	8	6302093	6302093	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:6302093G>A	ENST00000344683.5	+	8	926	c.850G>A	c.(850-852)Gat>Aat	p.D284N	MCPH1_ENST00000522905.1_Missense_Mutation_p.D236N|MCPH1_ENST00000519480.1_Missense_Mutation_p.D284N	NM_024596.3	NP_078872	Q8NEM0	MCPH1_HUMAN	microcephalin 1	284						microtubule organizing center			AGPAT5/MCPH1(2)	central_nervous_system(1)|large_intestine(4)|skin(1)	6		Hepatocellular(245;0.0663)		Colorectal(4;0.0505)		CACTCACCTCGATAAATCAAG	0.338													8	52					0	0	1	0	0	A	6302093	G	A	6302093	3	1	81	1	0	0	0	0	1	0	0	0	9448	1058	37	1	880	1	MCPH1	8	6302093	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	3334352	6302093	140061929	6571	10187											
MCPH1	79648	broad.mit.edu	37	8	6312716	6312716	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:6312716C>A	ENST00000344683.5	+	9	1954	c.1878C>A	c.(1876-1878)ggC>ggA	p.G626G		NM_024596.3	NP_078872	Q8NEM0	MCPH1_HUMAN	microcephalin 1	626						microtubule organizing center			AGPAT5/MCPH1(2)	central_nervous_system(1)|large_intestine(4)|skin(1)	6		Hepatocellular(245;0.0663)		Colorectal(4;0.0505)		CATGTGACGGCTTTAAGGACC	0.348													13	97					0.0242445	0.0248788	1	1	0	A	6312716	C	A	6312716	2	1	81	1	0	0	0	0	0	0	0	1	9448	784	28	4		4	MCPH1	8	6312716	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	10623	6312716	140051306	6572	10188											
AGPAT5	55326	broad.mit.edu	37	8	6605223	6605223	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:6605223C>T	ENST00000285518.6	+	6	931	c.619C>T	c.(619-621)Cga>Tga	p.R207*	AGPAT5_ENST00000530716.1_3'UTR	NM_018361.3	NP_060831.2	Q9NUQ2	PLCE_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 5	207					phospholipid biosynthetic process	integral to membrane|mitochondrion	1-acylglycerol-3-phosphate O-acyltransferase activity		AGPAT5/MCPH1(2)	endometrium(2)|kidney(2)|large_intestine(4)|lung(3)	11			STAD - Stomach adenocarcinoma(24;0.0578)	READ - Rectum adenocarcinoma(644;0.156)|COAD - Colon adenocarcinoma(149;0.191)		GCTAACACCACGAATAAAGGC	0.373													7	42					0	0	1	0	0	T	6605223	C	T	6605223	4	4	81	1	0	0	0	0	0	1	0	0	387	528	19	1	641	1	AGPAT5	8	6605223	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	292507	6605223	139758799	6573	10189											
DEFA4	1669	broad.mit.edu	37	8	6794287	6794287	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:6794287G>T	ENST00000297435.2	-	2	259	c.135C>A	c.(133-135)tcC>tcA	p.S45S		NM_001925.1	NP_001916.1	P12838	DEF4_HUMAN	defensin, alpha 4, corticostatin	45					defense response to bacterium|defense response to fungus|killing of cells of other organism	extracellular space				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)	10				COAD - Colon adenocarcinoma(149;0.0572)|READ - Rectum adenocarcinoma(644;0.121)		CCCATGCAAAGGAAATAGATA	0.562													4	58					0.150653	0.152522	1	1	0	T	6794287	G	T	6794287	2	4	81	1	0	0	0	0	0	0	0	1	4414	987	35	4		4	DEFA4	8	6794287	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	189064	6794287	139569735	6574	10190											
DEFA5	1670	broad.mit.edu	37	8	6913035	6913035	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:6913035C>T	ENST00000330590.2	-	2	239	c.203G>A	c.(202-204)cGa>cAa	p.R68Q		NM_021010.1	NP_066290.1	Q01523	DEF5_HUMAN	defensin, alpha 5, Paneth cell-specific	68					defense response to bacterium|defense response to fungus|killing of cells of other organism	extracellular space				NS(1)|lung(4)|skin(1)|stomach(1)	7				COAD - Colon adenocarcinoma(149;0.0572)|READ - Rectum adenocarcinoma(644;0.121)		ACGGCCGGTTCGGCAATAGCA	0.567													3	8					0	0	1	0	0	T	6913035	C	T	6913035	3	4	81	1	0	0	0	0	1	0	0	0	4415	884	31	1	85	1	DEFA5	8	6913035	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	118748	6913035	139450987	6575	10191											
SPAG11B	10407	broad.mit.edu	37	8	7308697	7308697	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:7308697C>T	ENST00000297498.2	-	3	405	c.239G>A	c.(238-240)cGa>cAa	p.R80Q	SPAG11B_ENST00000361111.2_Intron|SPAG11B_ENST00000398462.2_Intron|SPAG11B_ENST00000528168.1_Missense_Mutation_p.R27Q|SPAG11B_ENST00000359758.5_Intron|SPAG11B_ENST00000458665.1_Intron	NM_016512.3	NP_057596.1	Q08648	SG11B_HUMAN	sperm associated antigen 11B	80					spermatogenesis	extracellular region		p.R80Q(1)		large_intestine(2)|lung(3)|urinary_tract(1)	6				COAD - Colon adenocarcinoma(149;0.0162)|READ - Rectum adenocarcinoma(644;0.236)		TGAGGGTCCTCGAGCCTCCCG	0.468													7	44					0	0	1	0	0	T	7308697	C	T	7308697	3	4	81	1	0	0	0	0	1	0	0	0	15033	884	31	1	285	1	SPAG11B	8	7308697	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	395662	7308697	139055325	6576	10192											
SGK223	157285	broad.mit.edu	37	8	8175940	8175940	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:8175940G>A	ENST00000520004.1	-	6	4209	c.3945C>T	c.(3943-3945)ggC>ggT	p.G1315G	SGK223_ENST00000330777.4_Silent_p.G1315G			Q86YV5	SG223_HUMAN		1315	Protein kinase.						ATP binding|non-membrane spanning protein tyrosine kinase activity										GCTTGGCCTCGCCGATGCGGA	0.711													23	29					0	0	1	0	0	A	8175940	G	A	8175940	2	1	81	1	0	0	0	0	0	0	0	1	14264	1074	38	1		1	SGK223	8	8175940	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	867243	8175940	138188082	6577	10193											
SGK223	157285	broad.mit.edu	37	8	8176527	8176527	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:8176527C>T	ENST00000520004.1	-	6	3622	c.3358G>A	c.(3358-3360)Gtg>Atg	p.V1120M	SGK223_ENST00000330777.4_Missense_Mutation_p.V1120M			Q86YV5	SG223_HUMAN		1120	Protein kinase.						ATP binding|non-membrane spanning protein tyrosine kinase activity										AGGAAGCACACGCGCCGCTCG	0.667													43	72					0	0	1	0	0	T	8176527	C	T	8176527	3	4	81	1	0	0	0	0	1	0	0	0	14264	536	19	1	854	1	SGK223	8	8176527	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	587	8176527	138187495	6578	10194											
SGK223	157285	broad.mit.edu	37	8	8185546	8185546	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:8185546C>T	ENST00000520004.1	-	5	3010	c.2746G>A	c.(2746-2748)Gcc>Acc	p.A916T	SGK223_ENST00000330777.4_Missense_Mutation_p.A916T			Q86YV5	SG223_HUMAN		916							ATP binding|non-membrane spanning protein tyrosine kinase activity										GAGGATGAGGCGGAGGGGGCC	0.667													18	33					0	0	1	0	0	T	8185546	C	T	8185546	3	4	81	1	0	0	0	0	1	0	0	0	14264	768	27	1	1470	1	SGK223	8	8185546	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	9019	8185546	138178476	6579	10195											
SGK223	157285	broad.mit.edu	37	8	8235357	8235357	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:8235357C>T	ENST00000520004.1	-	3	826	c.562G>A	c.(562-564)Gtg>Atg	p.V188M	SGK223_ENST00000330777.4_Missense_Mutation_p.V188M			Q86YV5	SG223_HUMAN		188							ATP binding|non-membrane spanning protein tyrosine kinase activity										TCTTTGTGCACAGCCTTCTCC	0.602													7	86					0	0	1	0	0	T	8235357	C	T	8235357	3	4	81	1	0	0	0	0	1	0	0	0	14264	478	17	2	3662	2	SGK223	8	8235357	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	49811	8235357	138128665	6580	10196											
MFHAS1	9258	broad.mit.edu	37	8	8747988	8747988	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:8747988C>T	ENST00000276282.6	-	1	3167	c.2581G>A	c.(2581-2583)Gca>Aca	p.A861T		NM_004225.2	NP_004216.2	Q9Y4C4	MFHA1_HUMAN	malignant fibrous histiocytoma amplified sequence 1	861										endometrium(1)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|stomach(1)	21		Hepatocellular(245;0.217)		COAD - Colon adenocarcinoma(149;0.124)		CAGGCTTCTGCATGGGGCACC	0.488													8	72					0	0	1	0	0	T	8747988	C	T	8747988	3	4	81	1	0	0	0	0	1	0	0	0	9571	710	25	2	589	2	MFHAS1	8	8747988	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	512631	8747988	137616034	6581	10197											
MFHAS1	9258	broad.mit.edu	37	8	8748217	8748217	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:8748217C>T	ENST00000276282.6	-	1	2938	c.2352G>A	c.(2350-2352)caG>caA	p.Q784Q		NM_004225.2	NP_004216.2	Q9Y4C4	MFHA1_HUMAN	malignant fibrous histiocytoma amplified sequence 1	784										endometrium(1)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|stomach(1)	21		Hepatocellular(245;0.217)		COAD - Colon adenocarcinoma(149;0.124)		ACTGATGGAGCTGGGTGGCCC	0.632													16	32					0	0	1	0	0	T	8748217	C	T	8748217	2	4	81	1	0	0	0	0	0	0	0	1	9571	796	28	2		2	MFHAS1	8	8748217	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	229	8748217	137615805	6582	10198											
RP1L1	94137	broad.mit.edu	37	8	10465182	10465182	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:10465182C>A	ENST00000382483.3	-	4	6649	c.6426G>T	c.(6424-6426)caG>caT	p.Q2142H		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	2142					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		CTGACTCAGGCTGGGCCTCCC	0.617													11	178					4.36969e-10	5.3233e-10	1	1	0	A	10465182	C	A	10465182	3	1	81	1	0	0	0	0	1	0	0	0	13585	796	28	4	780	4	RP1L1	8	10465182	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1716965	10465182	135898840	6583	10199											
RP1L1	94137	broad.mit.edu	37	8	10465534	10465534	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:10465534G>A	ENST00000382483.3	-	4	6297	c.6074C>T	c.(6073-6075)gCc>gTc	p.A2025V		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	2025					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		CTTTGGCTGGGCCTCTACACC	0.612													89	125					0	0	1	0	0	A	10465534	G	A	10465534	3	1	81	1	0	0	0	0	1	0	0	0	13585	1203	42	2	1132	2	RP1L1	8	10465534	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	352	10465534	135898488	6584	10200											
RP1L1	94137	broad.mit.edu	37	8	10465764	10465764	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:10465764C>A	ENST00000382483.3	-	4	6067	c.5844G>T	c.(5842-5844)caG>caT	p.Q1948H		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	1948					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		CTTCTGCCTCCTGGGCCGCCT	0.602													11	134					0.105934	0.107844	1	1	0	A	10465764	C	A	10465764	3	1	81	1	0	0	0	0	1	0	0	0	13585	680	24	4	1362	4	RP1L1	8	10465764	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	230	10465764	135898258	6585	10201											
RP1L1	94137	broad.mit.edu	37	8	10466584	10466584	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:10466584G>A	ENST00000382483.3	-	4	5247	c.5024C>T	c.(5023-5025)aCa>aTa	p.T1675I		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	1675					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		TGCCCCCATTGTGGCCTTGGG	0.627													34	59					0	0	1	0	0	A	10466584	G	A	10466584	3	1	81	1	0	0	0	0	1	0	0	0	13585	1377	48	2	2182	2	RP1L1	8	10466584	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	820	10466584	135897438	6586	10202											
RP1L1	94137	broad.mit.edu	37	8	10466941	10466941	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:10466941A>G	ENST00000382483.3	-	4	4890	c.4667T>C	c.(4666-4668)aTg>aCg	p.M1556T		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	1556					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		CTCGGCCGCCATCTGGTCCAG	0.657													4	21					0	0	1	0	0	G	10466941	A	G	10466941	3	3	81	1	0	0	0	0	1	0	0	0	13585	217	8	3	2539	3	RP1L1	8	10466941	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	357	10466941	135897081	6587	10203											
RP1L1	94137	broad.mit.edu	37	8	10467277	10467277	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:10467277G>A	ENST00000382483.3	-	4	4554	c.4331C>T	c.(4330-4332)gCa>gTa	p.A1444V		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	1444					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		TGTGCCCTCTGCGGGGCACGG	0.632													17	192					0	0	1	0	0	A	10467277	G	A	10467277	3	1	81	1	0	0	0	0	1	0	0	0	13585	1319	46	2	2875	2	RP1L1	8	10467277	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	336	10467277	135896745	6588	10204											
RP1L1	94137	broad.mit.edu	37	8	10469301	10469301	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:10469301C>A	ENST00000382483.3	-	4	2530	c.2307G>T	c.(2305-2307)agG>agT	p.R769S		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	769					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		GCGAGCATGTCCTGGACCCCG	0.662													21	41					1.10513e-12	1.38486e-12	1	1	0	A	10469301	C	A	10469301	3	1	81	1	0	0	0	0	1	0	0	0	13585	854	30	5	4899	5	RP1L1	8	10469301	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2024	10469301	135894721	6589	10205											
RP1L1	94137	broad.mit.edu	37	8	10470315	10470315	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:10470315G>A	ENST00000382483.3	-	4	1516	c.1293C>T	c.(1291-1293)caC>caT	p.H431H		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	431					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		TGCAGCGGACGTGCTGGGCCA	0.687													9	39					0	0	1	0	0	A	10470315	G	A	10470315	2	1	81	1	0	0	0	0	0	0	0	1	13585	1136	40	1		1	RP1L1	8	10470315	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1014	10470315	135893707	6590	10206											
RP1L1	94137	broad.mit.edu	37	8	10470542	10470542	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:10470542C>A	ENST00000382483.3	-	4	1289	c.1066G>T	c.(1066-1068)Gac>Tac	p.D356Y		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	356					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		AGAACGGGGTCTTCCCCACTG	0.682													31	63					1.88708e-17	2.43564e-17	1	1	0	A	10470542	C	A	10470542	3	1	81	1	0	0	0	0	1	0	0	0	13585	913	32	4	6140	4	RP1L1	8	10470542	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	227	10470542	135893480	6591	10207											
RP1L1	94137	broad.mit.edu	37	8	10480458	10480458	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:10480458C>T	ENST00000382483.3	-	2	477	c.254G>A	c.(253-255)cGg>cAg	p.R85Q	RP1L1_ENST00000329335.3_5'UTR	NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	85					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		ATGCAGGCCCCGGGGTGTGGT	0.652													10	18					0	0	1	0	0	T	10480458	C	T	10480458	3	4	81	1	0	0	0	0	1	0	0	0	13585	652	23	1	6960	1	RP1L1	8	10480458	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	9916	10480458	135883564	6592	10208											
C8orf74	203076	broad.mit.edu	37	8	10555162	10555162	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:10555162C>T	ENST00000304519.5	+	3	324	c.295C>T	c.(295-297)Cgg>Tgg	p.R99W	RP1L1_ENST00000329335.3_Intron	NM_001040032.1	NP_001035121	Q6P047	CH074_HUMAN	chromosome 8 open reading frame 74	99										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	13				COAD - Colon adenocarcinoma(149;0.0811)		TAGAGATTACCGGGGCCATTT	0.567													51	76					0	0	1	0	0	T	10555162	C	T	10555162	3	4	81	1	0	0	0	0	1	0	0	0	2454	643	23	1	305	1	C8orf74	8	10555162	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	74704	10555162	135808860	6593	10209											
SOX7	83595	broad.mit.edu	37	8	10583430	10583430	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:10583430G>A	ENST00000304501.1	-	2	1063	c.985C>T	c.(985-987)Cgc>Tgc	p.R329C	SOX7_ENST00000553390.1_Missense_Mutation_p.R381C|SOX7_ENST00000554914.1_Missense_Mutation_p.R381C	NM_031439.2	NP_113627.1	Q9BT81	SOX7_HUMAN	SRY (sex determining region Y)-box 7	329	Sox C-terminal.				endoderm formation|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of caspase activity|regulation of canonical Wnt receptor signaling pathway	cytoplasm|nucleus	transcription regulatory region DNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20				COAD - Colon adenocarcinoma(149;0.0732)		AATTCATTGCGATCCATGTCC	0.627													15	24					0	0	1	0	0	A	10583430	G	A	10583430	3	1	81	1	0	0	0	0	1	0	0	0	15010	1058	37	1	185	1	SOX7	8	10583430	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	28268	10583430	135780592	6594	10210											
SOX7	83595	broad.mit.edu	37	8	10583614	10583614	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:10583614G>A	ENST00000304501.1	-	2	879	c.801C>T	c.(799-801)ggC>ggT	p.G267G	SOX7_ENST00000553390.1_Silent_p.G319G|SOX7_ENST00000554914.1_Silent_p.G319G	NM_031439.2	NP_113627.1	Q9BT81	SOX7_HUMAN	SRY (sex determining region Y)-box 7	267					endoderm formation|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of caspase activity|regulation of canonical Wnt receptor signaling pathway	cytoplasm|nucleus	transcription regulatory region DNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20				COAD - Colon adenocarcinoma(149;0.0732)		TCATGGAGACGCCGGGGGACT	0.677													19	19					0	0	1	0	0	A	10583614	G	A	10583614	2	1	81	1	0	0	0	0	0	0	0	1	15010	1074	38	1		1	SOX7	8	10583614	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	184	10583614	135780408	6595	10211											
SOX7	83595	broad.mit.edu	37	8	10583854	10583854	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:10583854G>A	ENST00000304501.1	-	2	639	c.561C>T	c.(559-561)ggC>ggT	p.G187G	SOX7_ENST00000553390.1_Silent_p.G239G|SOX7_ENST00000554914.1_Silent_p.G239G	NM_031439.2	NP_113627.1	Q9BT81	SOX7_HUMAN	SRY (sex determining region Y)-box 7	187					endoderm formation|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of caspase activity|regulation of canonical Wnt receptor signaling pathway	cytoplasm|nucleus	transcription regulatory region DNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20				COAD - Colon adenocarcinoma(149;0.0732)		GGGTGCCGCCGCCGCCACCAC	0.701													10	7					0	0	1	0	0	A	10583854	G	A	10583854	2	1	81	1	0	0	0	0	0	0	0	1	15010	1074	38	1		1	SOX7	8	10583854	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	240	10583854	135780168	6596	10212											
PINX1	54984	broad.mit.edu	37	8	10623373	10623373	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:10623373G>T	ENST00000426190.2	-	6	567	c.442C>A	c.(442-444)Ctt>Att	p.L148I	SOX7_ENST00000553390.1_Intron|SOX7_ENST00000554914.1_Intron|PINX1_ENST00000314787.3_Silent_p.A175A|CTD-2135J3.3_ENST00000519568.1_RNA|PINX1_ENST00000519088.1_Missense_Mutation_p.L150I	NM_001284356.1	NP_001271285.1			PIN2/TERF1 interacting, telomerase inhibitor 1											kidney(2)|large_intestine(4)|lung(8)|ovary(1)|skin(2)	17				Kidney(29;0.0595)|COAD - Colon adenocarcinoma(149;0.105)|KIRC - Kidney renal clear cell carcinoma(542;0.201)		GGATGGTGAAGGCGCTGGTTG	0.542													8	177					3.09899e-07	3.60815e-07	1	1	0	T	10623373	G	T	10623373	3	4	81	1	0	0	0	0	1	0	0	0	11981	987	35	4	465	4	PINX1	8	10623373	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	39519	10623373	135740649	6597	10213											
NEIL2	252969	broad.mit.edu	37	8	11637279	11637279	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:11637279C>T	ENST00000284503.6	+	3	910	c.311C>T	c.(310-312)tCt>tTt	p.S104F	NEIL2_ENST00000455213.2_Missense_Mutation_p.S104F|NEIL2_ENST00000403422.3_Missense_Mutation_p.S43F|NEIL2_ENST00000528323.1_Intron|NEIL2_ENST00000436750.3_Missense_Mutation_p.S104F	NM_145043.2	NP_659480.1	Q969S2	NEIL2_HUMAN	nei endonuclease VIII-like 2 (E. coli)	104					base-excision repair|nucleotide-excision repair	nucleus	damaged DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|hydrolase activity, hydrolyzing N-glycosyl compounds|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10	all_epithelial(15;0.103)		STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.166)		TCCTCACGGTCTGCAGAGCTC	0.602								Base excision repair (BER), DNA glycosylases					32	48					0	0	1	0	0	T	11637279	C	T	11637279	3	4	81	1	0	0	0	0	1	0	0	0	10366	913	32	2	322	2	NEIL2	8	11637279	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1013906	11637279	134726743	6598	10214											
FDFT1	2222	broad.mit.edu	37	8	11687765	11687765	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:11687765T>C	ENST00000220584.4	+	6	937	c.715T>C	c.(715-717)Tat>Cat	p.Y239H	FDFT1_ENST00000538689.1_Missense_Mutation_p.Y128H|FDFT1_ENST00000525900.1_Missense_Mutation_p.Y232H|FDFT1_ENST00000530664.1_Missense_Mutation_p.Y175H|FDFT1_ENST00000528812.1_Missense_Mutation_p.Y175H|FDFT1_ENST00000525777.1_Missense_Mutation_p.Y154H|FDFT1_ENST00000528643.1_Missense_Mutation_p.Y154H|FDFT1_ENST00000446331.2_3'UTR|FDFT1_ENST00000443614.2_Missense_Mutation_p.Y196H	NM_004462.3	NP_004453.3	P37268	FDFT_HUMAN	farnesyl-diphosphate farnesyltransferase 1	239					cholesterol biosynthetic process|isoprenoid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	farnesyl-diphosphate farnesyltransferase activity|oxidoreductase activity|protein binding|squalene synthase activity			breast(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)	12	all_epithelial(15;0.234)		STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.18)		TTGGAGCAGGTATGTTAAGAA	0.423													47	61					0	0	1	0	0	C	11687765	T	C	11687765	3	2	81	1	0	0	0	0	1	0	0	0	5835	1638	57	3	737	3	FDFT1	8	11687765	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	50486	11687765	134676257	6599	10215											
CTSB	1508	broad.mit.edu	37	8	11705621	11705621	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:11705621T>C	ENST00000353047.6	-	6	740	c.487A>G	c.(487-489)Aca>Gca	p.T163A	CTSB_ENST00000415599.2_3'UTR|CTSB_ENST00000434271.1_Missense_Mutation_p.T163A|CTSB_ENST00000531089.1_Missense_Mutation_p.T163A|CTSB_ENST00000530640.2_Missense_Mutation_p.T163A|CTSB_ENST00000453527.2_Missense_Mutation_p.T163A|CTSB_ENST00000345125.3_Missense_Mutation_p.T163A|CTSB_ENST00000533455.1_Missense_Mutation_p.T163A|CTSB_ENST00000534510.1_Missense_Mutation_p.T163A	NM_001908.3	NP_001899.1	P07858	CATB_HUMAN	cathepsin B	163					proteolysis|regulation of apoptosis|regulation of catalytic activity	lysosome|melanosome	cysteine-type endopeptidase activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(1)	16	all_epithelial(15;0.205)		STAD - Stomach adenocarcinoma(15;0.00546)	COAD - Colon adenocarcinoma(149;0.184)		CCTTTTCTTGTCCAGAAGTTC	0.488													41	32					0	0	1	0	0	C	11705621	T	C	11705621	3	2	81	1	0	0	0	0	1	0	0	0	4054	1667	58	3	552	3	CTSB	8	11705621	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	17856	11705621	134658401	6600	10216											
LONRF1	91694	broad.mit.edu	37	8	12594616	12594616	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:12594616C>T	ENST00000398246.3	-	5	1216	c.1147G>A	c.(1147-1149)Gtc>Atc	p.V383I	LONRF1_ENST00000533751.1_Missense_Mutation_p.V26I	NM_152271.3	NP_689484.3	Q17RB8	LONF1_HUMAN	LON peptidase N-terminal domain and ring finger 1	383					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)		CTTCCTTTGACAGGCTCTGAA	0.388													6	92					0	0	1	0	0	T	12594616	C	T	12594616	3	4	81	1	0	0	0	0	1	0	0	0	8939	478	17	2	1206	2	LONRF1	8	12594616	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	888995	12594616	133769406	6601	10217											
DLC1	10395	broad.mit.edu	37	8	13356716	13356716	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:13356716A>G	ENST00000276297.4	-	2	1274	c.865T>C	c.(865-867)Tca>Cca	p.S289P	DLC1_ENST00000316609.5_Missense_Mutation_p.S289P|DLC1_ENST00000511869.1_Missense_Mutation_p.S289P	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1	289					actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						TTTTCAGCTGACATTCCATTG	0.433													53	88					0	0	1	0	0	G	13356716	A	G	13356716	3	3	81	1	0	0	0	0	1	0	0	0	4578	275	10	3	3874	3	DLC1	8	13356716	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	762100	13356716	133007306	6602	10218											
DLC1	10395	broad.mit.edu	37	8	13356887	13356887	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:13356887C>T	ENST00000276297.4	-	2	1103	c.694G>A	c.(694-696)Gct>Act	p.A232T	DLC1_ENST00000316609.5_Missense_Mutation_p.A232T|DLC1_ENST00000511869.1_Missense_Mutation_p.A232T	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1	232					actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						CGTTGCTGAGCAATTACAGCA	0.393													14	207					0	0	1	0	0	T	13356887	C	T	13356887	3	4	81	1	0	0	0	0	1	0	0	0	4578	710	25	2	4045	2	DLC1	8	13356887	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	171	13356887	133007135	6603	10219											
DLC1	10395	broad.mit.edu	37	8	13357024	13357024	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:13357024G>T	ENST00000276297.4	-	2	966	c.557C>A	c.(556-558)tCt>tAt	p.S186Y	DLC1_ENST00000316609.5_Missense_Mutation_p.S186Y|DLC1_ENST00000511869.1_Missense_Mutation_p.S186Y	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1	186					actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						TTTACTTATAGAGTCAGTAAC	0.363													56	93					4.58403e-41	6.15643e-41	1	1	0	T	13357024	G	T	13357024	3	4	81	1	0	0	0	0	1	0	0	0	4578	942	33	4	4182	4	DLC1	8	13357024	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	137	13357024	133006998	6604	10220											
CNOT7	29883	broad.mit.edu	37	8	17089983	17089983	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:17089983C>A	ENST00000361272.4	-	6	980	c.682G>T	c.(682-684)Gga>Tga	p.G228*	CNOT7_ENST00000523917.1_Nonsense_Mutation_p.G228*	NM_013354.5	NP_037486.2	Q9UIV1	CNOT7_HUMAN	CCR4-NOT transcription complex, subunit 7	228					carbohydrate metabolic process|nuclear-transcribed mRNA poly(A) tail shortening	CCR4-NOT complex|cytoplasmic mRNA processing body|cytosol	nucleic acid binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)	11				Colorectal(111;0.0523)|COAD - Colon adenocarcinoma(73;0.209)		GAATCAGATCCTGCCTGATGT	0.398													38	85					2.00842e-17	2.59206e-17	1	1	0	A	17089983	C	A	17089983	4	1	81	1	0	0	0	0	0	1	0	0	3647	690	24	4	189	4	CNOT7	8	17089983	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3732959	17089983	129274039	6605	10221											
CNOT7	29883	broad.mit.edu	37	8	17102653	17102653	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:17102653C>T	ENST00000361272.4	-	2	307	c.9G>A	c.(7-9)gcG>gcA	p.A3A	CNOT7_ENST00000518885.1_5'UTR|CNOT7_ENST00000523917.1_Silent_p.A3A	NM_013354.5	NP_037486.2	Q9UIV1	CNOT7_HUMAN	CCR4-NOT transcription complex, subunit 7	3					carbohydrate metabolic process|nuclear-transcribed mRNA poly(A) tail shortening	CCR4-NOT complex|cytoplasmic mRNA processing body|cytosol	nucleic acid binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)	11				Colorectal(111;0.0523)|COAD - Colon adenocarcinoma(73;0.209)		CTACAGTTGCCGCTGGCATAG	0.353													15	37					0	0	1	0	0	T	17102653	C	T	17102653	2	4	81	1	0	0	0	0	0	0	0	1	3647	639	23	1		1	CNOT7	8	17102653	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	12670	17102653	129261369	6606	10222											
MTMR7	9108	broad.mit.edu	37	8	17170828	17170828	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:17170828T>C	ENST00000180173.5	-	8	982	c.948A>G	c.(946-948)atA>atG	p.I316M	MTMR7_ENST00000521857.1_Missense_Mutation_p.I316M	NM_004686.4	NP_004677.3	Q9Y216	MTMR7_HUMAN	myotubularin related protein 7	316	Myotubularin phosphatase.						protein tyrosine phosphatase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(8)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	32				Colorectal(111;0.112)		CTGCATCCATTATGGCTTTAA	0.418													7	53					0	0	1	0	0	C	17170828	T	C	17170828	3	2	81	1	0	0	0	0	1	0	0	0	9996	1744	61	3	1062	3	MTMR7	8	17170828	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	68175	17170828	129193194	6607	10223											
SLC7A2	6542	broad.mit.edu	37	8	17415834	17415834	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:17415834C>T	ENST00000470360.1	+	10	1460	c.1343C>T	c.(1342-1344)gCg>gTg	p.A448V	SLC7A2_ENST00000494857.1_Missense_Mutation_p.A409V|SLC7A2_ENST00000004531.10_Missense_Mutation_p.A449V|SLC7A2_ENST00000398090.3_Missense_Mutation_p.A448V|SLC7A2_ENST00000522656.1_Missense_Mutation_p.A409V			P52569	CTR2_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 2	409					cellular amino acid metabolic process|ion transport	cytoplasm|integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	25				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	L-Lysine(DB00123)|L-Ornithine(DB00129)	GACCTGAAGGCGCTTGTGGAC	0.507													26	36					0	0	1	0	0	T	17415834	C	T	17415834	3	4	81	1	0	0	0	0	1	0	0	0	14752	768	27	1	1517	1	SLC7A2	8	17415834	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	245006	17415834	128948188	6608	10224											
PDGFRL	5157	broad.mit.edu	37	8	17500218	17500218	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:17500218G>T	ENST00000541323.1	+	7	1481	c.1036G>T	c.(1036-1038)Gac>Tac	p.D346Y	PDGFRL_ENST00000523248.1_Intron|PDGFRL_ENST00000251630.6_Missense_Mutation_p.D346Y|PDGFRL_ENST00000398074.3_Missense_Mutation_p.D346Y	NM_006207.2	NP_006198.1	Q15198	PGFRL_HUMAN	platelet-derived growth factor receptor-like	346	Ig-like C2-type 2.					extracellular region	platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)	9				Colorectal(111;0.0752)		TACAGTGGAAGACTTTGAGAC	0.468													27	47					2.65835e-16	3.41045e-16	1	1	0	T	17500218	G	T	17500218	3	4	81	1	0	0	0	0	1	0	0	0	11710	942	33	4	1058	4	PDGFRL	8	17500218	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	84384	17500218	128863804	6609	10225											
MTUS1	57509	broad.mit.edu	37	8	17573323	17573323	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:17573323G>T	ENST00000381869.3	-	4	2848	c.2375C>A	c.(2374-2376)cCt>cAt	p.P792H	MTUS1_ENST00000381861.3_Missense_Mutation_p.P93H|MTUS1_ENST00000544260.1_5'UTR|MTUS1_ENST00000262102.6_Missense_Mutation_p.P846H|MTUS1_ENST00000519263.1_Missense_Mutation_p.P792H	NM_001001925.2	NP_001001925.1	Q9ULD2	MTUS1_HUMAN	microtubule associated tumor suppressor 1	846						Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36				Colorectal(111;0.0778)		GGATACCAAAGGCTTCAAATA	0.433													56	88					1.70205e-38	2.28386e-38	1	1	0	T	17573323	G	T	17573323	3	4	81	1	0	0	0	0	1	0	0	0	10013	1000	35	4	1444	4	MTUS1	8	17573323	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	73105	17573323	128790699	6610	10226											
MTUS1	57509	broad.mit.edu	37	8	17611316	17611316	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:17611316C>T	ENST00000381869.3	-	2	2474	c.2001G>A	c.(1999-2001)aaG>aaA	p.K667K	MTUS1_ENST00000381862.3_Silent_p.K667K|MTUS1_ENST00000262102.6_Silent_p.K667K|MTUS1_ENST00000519263.1_Silent_p.K667K	NM_001001925.2	NP_001001925.1	Q9ULD2	MTUS1_HUMAN	microtubule associated tumor suppressor 1	667						Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36				Colorectal(111;0.0778)		CTTTTTCACCCTTCTTTTCAG	0.353													7	64					0	0	1	0	0	T	17611316	C	T	17611316	2	4	81	1	0	0	0	0	0	0	0	1	10013	680	24	2		2	MTUS1	8	17611316	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	37993	17611316	128752706	6611	10227											
FGL1	2267	broad.mit.edu	37	8	17739544	17739544	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:17739544T>C	ENST00000398056.2	-	5	1023	c.208A>G	c.(208-210)Act>Gct	p.T70A	FGL1_ENST00000398054.1_Missense_Mutation_p.T70A|FGL1_ENST00000522444.1_Missense_Mutation_p.T70A|FGL1_ENST00000381841.2_Missense_Mutation_p.T70A|FGL1_ENST00000427924.1_Missense_Mutation_p.T70A|FGL1_ENST00000381840.2_Missense_Mutation_p.T70A|FGL1_ENST00000518650.1_Missense_Mutation_p.T70A			Q08830	FGL1_HUMAN	fibrinogen-like 1	70					signal transduction	fibrinogen complex	receptor binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)	13				Colorectal(111;0.0573)|COAD - Colon adenocarcinoma(73;0.215)		TCAATGACAGTATTCTCATCT	0.443													30	49					0	0	1	0	0	C	17739544	T	C	17739544	3	2	81	1	0	0	0	0	1	0	0	0	5905	1638	57	3	754	3	FGL1	8	17739544	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	128228	17739544	128624478	6612	10228											
PCM1	5108	broad.mit.edu	37	8	17810546	17810546	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:17810546G>A	ENST00000325083.8	+	9	1578	c.1139G>A	c.(1138-1140)aGc>aAc	p.S380N	PCM1_ENST00000519253.1_Missense_Mutation_p.S380N|PCM1_ENST00000524226.1_Missense_Mutation_p.S380N|PCM1_ENST00000518537.1_Missense_Mutation_p.S419N	NM_006197.3	NP_006188	Q15154	PCM1_HUMAN	pericentriolar material 1	380					centrosome organization|cilium assembly|G2/M transition of mitotic cell cycle|interkinetic nuclear migration|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome	centriolar satellite|cytosol|nuclear membrane|pericentriolar material	identical protein binding		PCM1/JAK2(30)	breast(4)|endometrium(8)|kidney(5)|large_intestine(16)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	48				Colorectal(111;0.0789)		GTTTCCCAGAGCAGGAAACCA	0.368			T	"RET, JAK2"	"papillary thyroid, CML, MPD"								5	12					0	0	1	0	0	A	17810546	G	A	17810546	3	1	81	1	0	0	0	0	1	0	0	0	11631	971	34	2	1165	2	PCM1	8	17810546	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	71002	17810546	128553476	6613	10229											
PCM1	5108	broad.mit.edu	37	8	17814820	17814820	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:17814820A>T	ENST00000325083.8	+	12	2133	c.1694A>T	c.(1693-1695)aAt>aTt	p.N565I	PCM1_ENST00000519253.1_Missense_Mutation_p.N565I|PCM1_ENST00000524226.1_Missense_Mutation_p.N565I	NM_006197.3	NP_006188	Q15154	PCM1_HUMAN	pericentriolar material 1	565					centrosome organization|cilium assembly|G2/M transition of mitotic cell cycle|interkinetic nuclear migration|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome	centriolar satellite|cytosol|nuclear membrane|pericentriolar material	identical protein binding		PCM1/JAK2(30)	breast(4)|endometrium(8)|kidney(5)|large_intestine(16)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	48				Colorectal(111;0.0789)		AGTCATAGTAATGCACAGTGT	0.358			T	"RET, JAK2"	"papillary thyroid, CML, MPD"								8	116					0	0	1	0	0	T	17814820	A	T	17814820	3	4	81	1	0	0	0	0	1	0	0	0	11631	101	4	4	1732	4	PCM1	8	17814820	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	4274	17814820	128549202	6614	10230											
PCM1	5108	broad.mit.edu	37	8	17822079	17822079	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:17822079C>T	ENST00000325083.8	+	18	3096	c.2657C>T	c.(2656-2658)aCg>aTg	p.T886M	PCM1_ENST00000519253.1_Missense_Mutation_p.T886M|PCM1_ENST00000524226.1_Missense_Mutation_p.T887M	NM_006197.3	NP_006188	Q15154	PCM1_HUMAN	pericentriolar material 1	886					centrosome organization|cilium assembly|G2/M transition of mitotic cell cycle|interkinetic nuclear migration|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome	centriolar satellite|cytosol|nuclear membrane|pericentriolar material	identical protein binding		PCM1/JAK2(30)	breast(4)|endometrium(8)|kidney(5)|large_intestine(16)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	48				Colorectal(111;0.0789)		ATCACTAGAACGATGGCAACT	0.418			T	"RET, JAK2"	"papillary thyroid, CML, MPD"								6	15					0	0	1	0	0	T	17822079	C	T	17822079	3	4	81	1	0	0	0	0	1	0	0	0	11631	536	19	1	2719	1	PCM1	8	17822079	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	7259	17822079	128541943	6615	10231											
NAT1	9	broad.mit.edu	37	8	18080414	18080415	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:18080414_18080415insT	ENST00000539092.1	+	5	1549_1550	c.858_859insT	c.(859-861)tttfs	p.F287fs	NAT1_ENST00000517492.1_Frame_Shift_Ins_p.F287fs|NAT1_ENST00000545197.1_Frame_Shift_Ins_p.F349fs|NAT1_ENST00000307719.4_Frame_Shift_Ins_p.F287fs|NAT1_ENST00000518029.1_Frame_Shift_Ins_p.F287fs|NAT1_ENST00000541942.1_Frame_Shift_Ins_p.F287fs|NAT1_ENST00000535084.1_Frame_Shift_Ins_p.F287fs|NAT1_ENST00000520546.1_Frame_Shift_Ins_p.F287fs	NM_001160170.1|NM_001160172.1	NP_001153642.1|NP_001153644.1	P18440	ARY1_HUMAN	N-acetyltransferase 1 (arylamine N-acetyltransferase)	287					xenobiotic metabolic process	cytosol	arylamine N-acetyltransferase activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|lung(2)|urinary_tract(1)	9				Colorectal(111;0.0519)|COAD - Colon adenocarcinoma(73;0.208)		ATGGTGATAGATTTTTTACTAT	0.342													30	39	---	---	---	---						T	18080415	-	T	18080414	7	5	81	1	0	1	1	0	0	0	0	0	10221	330	12	0	1054	0	NAT1	8	18080414	Frame_Shift_Ins	INS	-	TCGA-DU-6392-01A-11D-1705-08	258335	18080414	128283608	6616	10232											
PSD3	23362	broad.mit.edu	37	8	18430054	18430054	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:18430054G>A	ENST00000440756.2	-	14	2876	c.2774C>T	c.(2773-2775)aCa>aTa	p.T925I	PSD3_ENST00000428502.2_Missense_Mutation_p.T252I|PSD3_ENST00000523619.1_Missense_Mutation_p.T858I|PSD3_ENST00000327040.8_Missense_Mutation_p.T923I|PSD3_ENST00000286485.8_Missense_Mutation_p.T389I			Q9NYI0	PSD3_HUMAN	pleckstrin and Sec7 domain containing 3	924					regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		CAGTTTTGTTGTAGTGGCAGG	0.403													39	58					0	0	1	0	0	A	18430054	G	A	18430054	3	1	81	1	0	0	0	0	1	0	0	0	12697	1377	48	2	387	2	PSD3	8	18430054	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	349640	18430054	127933968	6617	10233											
CSGALNACT1	55790	broad.mit.edu	37	8	19316023	19316023	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:19316023C>T	ENST00000454498.2	-	5	1778	c.765G>A	c.(763-765)aaG>aaA	p.K255K	CSGALNACT1_ENST00000544602.1_Silent_p.K255K|CSGALNACT1_ENST00000311540.4_Silent_p.K255K|CSGALNACT1_ENST00000518542.1_5'UTR|CSGALNACT1_ENST00000522854.1_Silent_p.K255K|CSGALNACT1_ENST00000332246.6_Silent_p.K255K	NM_001130518.1	NP_001123990.1	Q8TDX6	CGAT1_HUMAN	chondroitin sulfate N-acetylgalactosaminyltransferase 1	255					anatomical structure morphogenesis|cell proliferation|cell recognition|chondroitin sulfate biosynthetic process|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process|extracellular matrix organization|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|heparin biosynthetic process|nervous system development|UDP-glucuronate metabolic process|UDP-N-acetylgalactosamine metabolic process	Golgi cisterna membrane|integral to Golgi membrane|soluble fraction	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|glucuronosyltransferase activity|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|peptidoglycan glycosyltransferase activity			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31				Colorectal(111;0.182)		CCATGTTGAGCTTTTCATTTT	0.448													31	262					0	0	1	0	0	T	19316023	C	T	19316023	2	4	81	1	0	0	0	0	0	0	0	1	3963	796	28	2		2	CSGALNACT1	8	19316023	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	885969	19316023	127047999	6618	10234											
INTS10	55174	broad.mit.edu	37	8	19675794	19675794	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:19675794G>A	ENST00000397977.3	+	2	536	c.138G>A	c.(136-138)atG>atA	p.M46I	INTS10_ENST00000521758.1_3'UTR	NM_018142.2	NP_060612.2	Q9NVR2	INT10_HUMAN	integrator complex subunit 10	46					snRNA processing	integrator complex	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	20				Colorectal(111;0.057)|COAD - Colon adenocarcinoma(73;0.215)		AGTATGAGATGTACACCATCG	0.587													31	82					0	0	1	0	0	A	19675794	G	A	19675794	3	1	81	1	0	0	0	0	1	0	0	0	7820	1377	48	2	144	2	INTS10	8	19675794	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	359771	19675794	126688228	6619	10235											
LPL	4023	broad.mit.edu	37	8	19805744	19805744	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:19805744G>T	ENST00000311322.8	+	2	612	c.142G>T	c.(142-144)Gac>Tac	p.D48Y	LPL_ENST00000521994.1_3'UTR	NM_000237.2	NP_000228.1	P06858	LIPL_HUMAN	lipoprotein lipase	48					fatty acid biosynthetic process|lipoprotein metabolic process|phospholipid metabolic process|positive regulation of cholesterol storage|positive regulation of sequestering of triglyceride|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling	anchored to membrane|chylomicron|plasma membrane|very-low-density lipoprotein particle	heparin binding|lipoprotein lipase activity|phospholipase activity|receptor binding|triglyceride lipase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	36				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	Clofibrate(DB00636)|Gemfibrozil(DB01241)|Orlistat(DB01083)	GACCCCTGAAGACACAGCTGA	0.458													16	95					1.99824e-07	2.33645e-07	1	1	0	T	19805744	G	T	19805744	3	4	81	1	0	0	0	0	1	0	0	0	8966	942	33	4	148	4	LPL	8	19805744	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	129950	19805744	126558278	6620	10236											
ATP6V1B2	526	broad.mit.edu	37	8	20070400	20070400	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:20070400C>T	ENST00000276390.2	+	9	951	c.911C>T	c.(910-912)gCt>gTt	p.A304V		NM_001693.3	NP_001684.2	P21281	VATB2_HUMAN	ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B2	304					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|endomembrane system|Golgi apparatus|melanosome|plasma membrane|proton-transporting V-type ATPase, V1 domain	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			endometrium(1)|kidney(2)|lung(5)|prostate(1)	9				Colorectal(74;0.0535)|COAD - Colon adenocarcinoma(73;0.211)		AGTTCTTATGCTGAAGCACTT	0.383													52	75					0	0	1	0	0	T	20070400	C	T	20070400	3	4	81	1	0	0	0	0	1	0	0	0	1177	797	28	2	945	2	ATP6V1B2	8	20070400	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	264656	20070400	126293622	6621	10237											
LZTS1	11178	broad.mit.edu	37	8	20110344	20110344	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:20110344G>A	ENST00000381569.1	-	3	1455	c.1098C>T	c.(1096-1098)taC>taT	p.Y366Y	LZTS1_ENST00000522290.1_Silent_p.Y366Y|LZTS1_ENST00000265801.6_Silent_p.Y366Y			Q9Y250	LZTS1_HUMAN	leucine zipper, putative tumor suppressor 1	366					cell cycle|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	cell junction|dendritic spine|Golgi apparatus|nucleolus|nucleoplasm|postsynaptic density|postsynaptic membrane	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(2)|skin(1)|urinary_tract(1)	29				Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207)		TCTCCCTCTCGTAGGACCTGA	0.642													18	18					0	0	1	0	0	A	20110344	G	A	20110344	2	1	81	1	0	0	0	0	0	0	0	1	9184	1140	40	1		1	LZTS1	8	20110344	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	39944	20110344	126253678	6622	10238											
LZTS1	11178	broad.mit.edu	37	8	20110545	20110545	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:20110545C>T	ENST00000381569.1	-	3	1254	c.897G>A	c.(895-897)ccG>ccA	p.P299P	LZTS1_ENST00000522290.1_Silent_p.P299P|LZTS1_ENST00000265801.6_Silent_p.P299P			Q9Y250	LZTS1_HUMAN	leucine zipper, putative tumor suppressor 1	299					cell cycle|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	cell junction|dendritic spine|Golgi apparatus|nucleolus|nucleoplasm|postsynaptic density|postsynaptic membrane	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(2)|skin(1)|urinary_tract(1)	29				Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207)		TGCAGCGCCGCGGCCGCTCCT	0.682													16	23					0	0	1	0	0	T	20110545	C	T	20110545	2	4	81	1	0	0	0	0	0	0	0	1	9184	755	27	1		1	LZTS1	8	20110545	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	201	20110545	126253477	6623	10239											
GFRA2	2675	broad.mit.edu	37	8	21560348	21560348	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:21560348G>A	ENST00000524240.1	-	7	1837	c.1187C>T	c.(1186-1188)aCc>aTc	p.T396I	GFRA2_ENST00000517328.1_Missense_Mutation_p.T396I|GFRA2_ENST00000400782.4_Missense_Mutation_p.T291I|GFRA2_ENST00000518077.1_Missense_Mutation_p.T263I	NM_001495.4	NP_001486.4	O00451	GFRA2_HUMAN	GDNF family receptor alpha 2	396						anchored to membrane|extrinsic to membrane|plasma membrane	glial cell-derived neurotrophic factor receptor activity			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|prostate(1)|skin(1)	7				Colorectal(74;0.0189)|COAD - Colon adenocarcinoma(73;0.0727)		GATGACACTGGTCCCCAAGCT	0.622													13	33					0	0	1	0	0	A	21560348	G	A	21560348	3	1	81	1	0	0	0	0	1	0	0	0	6390	1261	44	2	219	2	GFRA2	8	21560348	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1449803	21560348	124803674	6624	10240											
DOK2	9046	broad.mit.edu	37	8	21771103	21771103	+	Missense_Mutation	SNP	C	C	T	rs149394218	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:21771103C>T	ENST00000276420.4	-	1	268	c.10G>A	c.(10-12)Ggg>Agg	p.G4R	DOK2_ENST00000544659.1_5'UTR	NM_003974.2	NP_003965.2	O60496	DOK2_HUMAN	docking protein 2, 56kDa	4	PH.				blood coagulation|leukocyte migration	cytosol	identical protein binding|insulin receptor binding			NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(3)|skin(1)	26				Colorectal(74;0.0145)|COAD - Colon adenocarcinoma(73;0.0608)		TTCACTGCCCCGTCTCCCATC	0.587													23	35					0	0	1	0	0	T	21771103	C	T	21771103	3	4	81	1	0	0	0	0	1	0	0	0	4724	652	23	1	1248	1	DOK2	8	21771103	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	210755	21771103	124592919	6625	10241											
XPO7	23039	broad.mit.edu	37	8	21833992	21833992	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:21833992C>T	ENST00000434536.1	+	7	852	c.750C>T	c.(748-750)gaC>gaT	p.D250D	XPO7_ENST00000518017.1_3'UTR|XPO7_ENST00000433566.4_Silent_p.D242D|XPO7_ENST00000252512.9_Silent_p.D241D			Q9UIA9	XPO7_HUMAN	exportin 7	241					mRNA transport|protein export from nucleus|transmembrane transport	cytoplasm|nuclear pore	nuclear export signal receptor activity|protein transporter activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724)		AGTCCTCAGACGACCTGTGTA	0.498													34	64					0	0	1	0	0	T	21833992	C	T	21833992	2	4	81	1	0	0	0	0	0	0	0	1	17509	535	19	1		1	XPO7	8	21833992	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	62889	21833992	124530030	6626	10242											
XPO7	23039	broad.mit.edu	37	8	21848376	21848376	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:21848376C>T	ENST00000434536.1	+	18	2116	c.2014C>T	c.(2014-2016)Cgg>Tgg	p.R672W	XPO7_ENST00000433566.4_Missense_Mutation_p.R664W|XPO7_ENST00000252512.9_Missense_Mutation_p.R663W			Q9UIA9	XPO7_HUMAN	exportin 7	663					mRNA transport|protein export from nucleus|transmembrane transport	cytoplasm|nuclear pore	nuclear export signal receptor activity|protein transporter activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724)		GACAGACATGCGGTGTCGGAC	0.418													7	232					0	0	1	0	0	T	21848376	C	T	21848376	3	4	81	1	0	0	0	0	1	0	0	0	17509	759	27	1	2109	1	XPO7	8	21848376	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	14384	21848376	124515646	6627	10243											
FAM160B2	64760	broad.mit.edu	37	8	21955336	21955336	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:21955336G>A	ENST00000289921.7	+	5	557	c.511G>A	c.(511-513)Gcc>Acc	p.A171T		NM_022749.5	NP_073586.5	Q86V87	F16B2_HUMAN	family with sequence similarity 160, member B2	171										endometrium(2)|kidney(1)|lung(2)|prostate(3)|urinary_tract(1)	9						AGAGCTGCTCGCCTACATCCT	0.617													9	16					0	0	1	0	0	A	21955336	G	A	21955336	3	1	81	1	0	0	0	0	1	0	0	0	5501	1087	38	1	529	1	FAM160B2	8	21955336	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	106960	21955336	124408686	6628	10244											
FAM160B2	64760	broad.mit.edu	37	8	21957283	21957283	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:21957283C>T	ENST00000289921.7	+	10	1266	c.1220C>T	c.(1219-1221)gCg>gTg	p.A407V		NM_022749.5	NP_073586.5	Q86V87	F16B2_HUMAN	family with sequence similarity 160, member B2	407										endometrium(2)|kidney(1)|lung(2)|prostate(3)|urinary_tract(1)	9						CGCTCCCCTGCGCTGCTGCGG	0.672													17	14					0	0	1	0	0	T	21957283	C	T	21957283	3	4	81	1	0	0	0	0	1	0	0	0	5501	768	27	1	1057	1	FAM160B2	8	21957283	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1947	21957283	124406739	6629	10245											
HR	55806	broad.mit.edu	37	8	21984708	21984708	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:21984708C>A	ENST00000381418.4	-	3	2727	c.1247G>T	c.(1246-1248)aGc>aTc	p.S416I	HR_ENST00000312841.8_Missense_Mutation_p.S416I	NM_005144.4	NP_005135.2	O43593	HAIR_HUMAN	hair growth associated	416							DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	27		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		GACCTCGGGGCTGCCTGCCCT	0.677													6	74					5.9392e-07	6.87481e-07	1	1	0	A	21984708	C	A	21984708	3	1	81	1	0	0	0	0	1	0	0	0	7388	797	28	4	2390	4	HR	8	21984708	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	27425	21984708	124379314	6630	10246											
LGI3	203190	broad.mit.edu	37	8	22006277	22006277	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:22006277C>T	ENST00000306317.2	-	8	1332	c.1043G>A	c.(1042-1044)aGc>aAc	p.S348N	LGI3_ENST00000424267.2_Missense_Mutation_p.S324N	NM_139278.2	NP_644807.1	Q8N145	LGI3_HUMAN	leucine-rich repeat LGI family, member 3	348					exocytosis	cell junction|extracellular region|synaptic vesicle|synaptosome				endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	17				Colorectal(74;0.00189)|COAD - Colon adenocarcinoma(73;0.0612)|READ - Rectum adenocarcinoma(644;0.0999)		TGCCTTGGAGCTGTCAGCCAC	0.617													17	20					0	0	1	0	0	T	22006277	C	T	22006277	3	4	81	1	0	0	0	0	1	0	0	0	8793	797	28	2	607	2	LGI3	8	22006277	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	21569	22006277	124357745	6631	10247											
LGI3	203190	broad.mit.edu	37	8	22011708	22011708	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:22011708G>A	ENST00000306317.2	-	4	658	c.369C>T	c.(367-369)gaC>gaT	p.D123D	LGI3_ENST00000424267.2_Intron	NM_139278.2	NP_644807.1	Q8N145	LGI3_HUMAN	leucine-rich repeat LGI family, member 3	123					exocytosis	cell junction|extracellular region|synaptic vesicle|synaptosome				endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	17				Colorectal(74;0.00189)|COAD - Colon adenocarcinoma(73;0.0612)|READ - Rectum adenocarcinoma(644;0.0999)		GTGCCCAGATGTCATTGTTCT	0.557													20	41					0	0	1	0	0	A	22011708	G	A	22011708	2	1	81	1	0	0	0	0	0	0	0	1	8793	1368	48	2		2	LGI3	8	22011708	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	5431	22011708	124352314	6632	10248											
BMP1	649	broad.mit.edu	37	8	22051656	22051656	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:22051656G>T	ENST00000306385.5	+	10	1936	c.1266G>T	c.(1264-1266)tgG>tgT	p.W422C	BMP1_ENST00000397816.3_Missense_Mutation_p.W422C|BMP1_ENST00000306349.8_Missense_Mutation_p.W422C|BMP1_ENST00000397814.3_Missense_Mutation_p.W422C|BMP1_ENST00000354870.5_3'UTR	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN	bone morphogenetic protein 1	422	CUB 1.				cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis	extracellular space	calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		GCAGCAATTGGGTTGGAAAGG	0.577													5	65					0.000602214	0.000646338	1	1	0	T	22051656	G	T	22051656	3	4	81	1	0	0	0	0	1	0	0	0	1455	1241	43	5	1304	5	BMP1	8	22051656	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	39948	22051656	124312366	6633	10249											
BMP1	649	broad.mit.edu	37	8	22052380	22052380	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:22052380C>T	ENST00000306385.5	+	12	2257	c.1587C>T	c.(1585-1587)ttC>ttT	p.F529F	BMP1_ENST00000397816.3_Silent_p.F529F|BMP1_ENST00000306349.8_Silent_p.F529F|BMP1_ENST00000397814.3_Silent_p.F529F|BMP1_ENST00000354870.5_3'UTR	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN	bone morphogenetic protein 1	529	CUB 2.				cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis	extracellular space	calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		GGCTCAAGTTCGTCTCTGACG	0.577													34	38					0	0	1	0	0	T	22052380	C	T	22052380	2	4	81	1	0	0	0	0	0	0	0	1	1455	883	31	1		1	BMP1	8	22052380	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	724	22052380	124311642	6634	10250											
BMP1	649	broad.mit.edu	37	8	22054225	22054225	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:22054225G>A	ENST00000306385.5	+	14	2468	c.1798G>A	c.(1798-1800)Ggc>Agc	p.G600S	BMP1_ENST00000397816.3_Missense_Mutation_p.G600S|BMP1_ENST00000306349.8_Missense_Mutation_p.G600S|BMP1_ENST00000354870.5_3'UTR	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN	bone morphogenetic protein 1	600	CUB 3.				cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis	extracellular space	calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		CAAGCTCAACGGCTCCATCAC	0.647													17	29					0	0	1	0	0	A	22054225	G	A	22054225	3	1	81	1	0	0	0	0	1	0	0	0	1455	1116	39	1	1852	1	BMP1	8	22054225	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1845	22054225	124309797	6635	10251											
BMP1	649	broad.mit.edu	37	8	22056812	22056812	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:22056812A>G	ENST00000397816.3	+	16	2604	c.2385A>G	c.(2383-2385)cgA>cgG	p.R795R	BMP1_ENST00000306385.5_Intron|BMP1_ENST00000306349.8_Intron|BMP1_ENST00000354870.5_Intron			P13497	BMP1_HUMAN	bone morphogenetic protein 1	0	CUB 4.				cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis	extracellular space	calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		ACACCCACCGAGGAGACCCTA	0.622													9	66					0	0	1	0	0	G	22056812	A	G	22056812	2	3	81	1	0	0	0	0	0	0	0	1	1455	319	11	3		3	BMP1	8	22056812	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	2587	22056812	124307210	6636	10252											
PHYHIP	9796	broad.mit.edu	37	8	22085844	22085844	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:22085844G>A	ENST00000454243.2	-	2	601	c.27C>T	c.(25-27)agC>agT	p.S9S	PHYHIP_ENST00000321613.3_Silent_p.S9S	NM_014759.3	NP_055574.3	Q92561	PHYIP_HUMAN	phytanoyl-CoA 2-hydroxylase interacting protein	9	Fibronectin type-III.									endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	10				Colorectal(74;0.0152)|COAD - Colon adenocarcinoma(73;0.0629)		TGATCTCAATGCTGTGGGGCG	0.577													3	7					0	0	1	0	0	A	22085844	G	A	22085844	2	1	81	1	0	0	0	0	0	0	0	1	11914	1310	46	2		2	PHYHIP	8	22085844	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	29032	22085844	124278178	6637	10253											
PIWIL2	55124	broad.mit.edu	37	8	22211839	22211839	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:22211839C>T	ENST00000356766.6	+	22	2861	c.2713C>T	c.(2713-2715)Cat>Tat	p.H905Y	PIWIL2_ENST00000454009.2_Missense_Mutation_p.H905Y|PIWIL2_ENST00000521356.1_Intron	NM_018068.3	NP_060538.2	Q8TC59	PIWL2_HUMAN	piwi-like RNA-mediated gene silencing 2	905	Piwi.				DNA methylation involved in gamete generation|gene silencing by RNA|germ-line stem cell maintenance|multicellular organismal development|oogenesis|piRNA metabolic process|positive regulation of translation|RNA 5'-end processing|spermatogenesis	chromatoid body|pi-body	piRNA binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(14)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	46				Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)		CATTCCTACGCATTATGTCTG	0.458													6	53					0	0	1	0	0	T	22211839	C	T	22211839	3	4	81	1	0	0	0	0	1	0	0	0	12006	710	25	2	2795	2	PIWIL2	8	22211839	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	125995	22211839	124152183	6638	10254											
SLC39A14	23516	broad.mit.edu	37	8	22273680	22273680	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:22273680G>A	ENST00000381237.1	+	7	1153	c.1034G>A	c.(1033-1035)gGc>gAc	p.G345D	SLC39A14_ENST00000289952.5_Missense_Mutation_p.G345D|SLC39A14_ENST00000240095.6_Missense_Mutation_p.G345D|SLC39A14_ENST00000359741.5_Missense_Mutation_p.G345D	NM_001128431.2	NP_001121903.1	Q15043	S39AE_HUMAN	solute carrier family 39 (zinc transporter), member 14	345						endoplasmic reticulum|Golgi apparatus|integral to membrane|lamellipodium|plasma membrane	zinc ion transmembrane transporter activity			NS(1)|endometrium(4)|large_intestine(2)|lung(4)|prostate(1)	12				Colorectal(74;0.019)|COAD - Colon adenocarcinoma(73;0.0731)		CTGAGCGACGGCCTCCATAAT	0.557													29	52					0	0	1	0	0	A	22273680	G	A	22273680	3	1	81	1	0	0	0	0	1	0	0	0	14672	1203	42	2	1230	2	SLC39A14	8	22273680	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	61841	22273680	124090342	6639	10255											
SLC39A14	23516	broad.mit.edu	37	8	22275310	22275310	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:22275310G>A	ENST00000381237.1	+	8	1413	c.1294G>A	c.(1294-1296)Gct>Act	p.A432T	SLC39A14_ENST00000289952.5_Missense_Mutation_p.A432T|SLC39A14_ENST00000240095.6_Missense_Mutation_p.A432T|SLC39A14_ENST00000359741.5_Missense_Mutation_p.A432T	NM_001128431.2	NP_001121903.1	Q15043	S39AE_HUMAN	solute carrier family 39 (zinc transporter), member 14	432						endoplasmic reticulum|Golgi apparatus|integral to membrane|lamellipodium|plasma membrane	zinc ion transmembrane transporter activity			NS(1)|endometrium(4)|large_intestine(2)|lung(4)|prostate(1)	12				Colorectal(74;0.019)|COAD - Colon adenocarcinoma(73;0.0731)		TTTTGCGCTAGCTGGAGGAAT	0.512													18	33					0	0	1	0	0	A	22275310	G	A	22275310	3	1	81	1	0	0	0	0	1	0	0	0	14672	971	34	2	1494	2	SLC39A14	8	22275310	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1630	22275310	124088712	6640	10256											
PPP3CC	5533	broad.mit.edu	37	8	22368598	22368598	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:22368598G>T	ENST00000240139.5	+	5	811		c.e5-1		PPP3CC_ENST00000397775.3_Splice_Site|PPP3CC_ENST00000518852.1_Splice_Site|PPP3CC_ENST00000289963.8_Splice_Site	NM_005605.4	NP_005596.2	P48454	PP2BC_HUMAN	protein phosphatase 3, catalytic subunit, gamma isozyme						activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals	cytosol	calmodulin binding|metal ion binding|phosphoprotein phosphatase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17		Prostate(55;0.104)		BRCA - Breast invasive adenocarcinoma(99;0.00756)|Colorectal(74;0.0238)|COAD - Colon adenocarcinoma(73;0.0835)		TTTTTTGTTAGGTCGAATCAA	0.388													6	91					1.12685e-05	1.27052e-05	1	1	0	T	22368598	G	T	22368598	5	4	81	1	0	0	0	0	0	0	1	0	12448	1014	35	4	502	4	PPP3CC	8	22368598	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	93288	22368598	123995424	6641	10257											
BIN3	55909	broad.mit.edu	37	8	22479052	22479052	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:22479052G>T	ENST00000276416.6	-	9	713	c.645C>A	c.(643-645)atC>atA	p.I215I	BIN3_ENST00000519513.1_Silent_p.I161I|BIN3_ENST00000519335.1_5'UTR|BIN3_ENST00000399977.4_Silent_p.I167I	NM_018688.4	NP_061158.1	Q9NQY0	BIN3_HUMAN	bridging integrator 3	215	BAR.				actin filament organization|barrier septum formation|cell cycle|protein localization|unidimensional cell growth	cytoplasm|cytoskeleton	cytoskeletal adaptor activity			kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	9		Prostate(55;0.0424)|Breast(100;0.102)|all_epithelial(46;0.143)		BRCA - Breast invasive adenocarcinoma(99;0.00664)|Colorectal(74;0.0189)|COAD - Colon adenocarcinoma(73;0.0727)		GGTCTCCAAAGATCTTGTGCA	0.622													29	38					2.85442e-18	3.69892e-18	1	1	0	T	22479052	G	T	22479052	2	4	81	1	0	0	0	0	0	0	0	1	1433	932	33	4		4	BIN3	8	22479052	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	110454	22479052	123884970	6642	10258											
BIN3	55909	broad.mit.edu	37	8	22481832	22481832	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:22481832C>T	ENST00000276416.6	-	7	451	c.383G>A	c.(382-384)cGg>cAg	p.R128Q	BIN3_ENST00000519513.1_Missense_Mutation_p.R74Q|BIN3_ENST00000519335.1_5'UTR|BIN3_ENST00000399977.4_Missense_Mutation_p.R80Q	NM_018688.4	NP_061158.1	Q9NQY0	BIN3_HUMAN	bridging integrator 3	128	BAR.				actin filament organization|barrier septum formation|cell cycle|protein localization|unidimensional cell growth	cytoplasm|cytoskeleton	cytoskeletal adaptor activity			kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	9		Prostate(55;0.0424)|Breast(100;0.102)|all_epithelial(46;0.143)		BRCA - Breast invasive adenocarcinoma(99;0.00664)|Colorectal(74;0.0189)|COAD - Colon adenocarcinoma(73;0.0727)		GGCCTGTTCCCGCCTCTTCAC	0.607													9	33					0	0	1	0	0	T	22481832	C	T	22481832	3	4	81	1	0	0	0	0	1	0	0	0	1433	652	23	1	390	1	BIN3	8	22481832	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2780	22481832	123882190	6643	10259											
EGR3	1960	broad.mit.edu	37	8	22548564	22548564	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:22548564G>T	ENST00000317216.2	-	2	943	c.586C>A	c.(586-588)Ctc>Atc	p.L196I	RP11-459E5.1_ENST00000523627.1_RNA|EGR3_ENST00000522910.1_Missense_Mutation_p.L158I|EGR3_ENST00000519492.1_3'UTR|EGR3_ENST00000524088.1_5'UTR	NM_001199881.1|NM_004430.2	NP_001186810.1|NP_004421.2	Q06889	EGR3_HUMAN	early growth response 3	196					circadian rhythm|muscle organ development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		Prostate(55;0.0421)|Breast(100;0.102)		Colorectal(74;0.0145)|BRCA - Breast invasive adenocarcinoma(99;0.053)|COAD - Colon adenocarcinoma(73;0.0608)		TGGTGGTAGAGGTTGTAGTCA	0.617													25	28					7.38237e-10	8.97233e-10	1	1	0	T	22548564	G	T	22548564	3	4	81	1	0	0	0	0	1	0	0	0	4999	1000	35	4	581	4	EGR3	8	22548564	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	66732	22548564	123815458	6644	10260											
PEBP4	157310	broad.mit.edu	37	8	22584731	22584731	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:22584731G>A	ENST00000256404.6	-	5	451	c.360C>T	c.(358-360)ggC>ggT	p.G120G	RP11-459E5.1_ENST00000523627.1_RNA	NM_144962.2	NP_659399.2	Q96S96	PEBP4_HUMAN	phosphatidylethanolamine-binding protein 4	120						lysosome		p.G120G(1)		breast(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)|stomach(2)	10		Prostate(55;0.0453)|Breast(100;0.103)		Colorectal(74;0.0434)|COAD - Colon adenocarcinoma(73;0.124)		TCAGGTCGGCGCCCTGAAAGA	0.572													11	23					0	0	1	0	0	A	22584731	G	A	22584731	2	1	81	1	0	0	0	0	0	0	0	1	11761	1074	38	1		1	PEBP4	8	22584731	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	36167	22584731	123779291	6645	10261											
TNFRSF10B	8795	broad.mit.edu	37	8	22900721	22900721	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:22900721G>A	ENST00000276431.4	-	2	464	c.180C>T	c.(178-180)gaC>gaT	p.D60D	TNFRSF10B_ENST00000542226.1_Intron|TNFRSF10B_ENST00000519910.1_5'UTR|TNFRSF10B_ENST00000347739.3_Silent_p.D60D	NM_003842.4|NM_147187.2	NP_003833.4|NP_671716.2	O14763	TR10B_HUMAN	tumor necrosis factor receptor superfamily, member 10b	60					activation of NF-kappaB-inducing kinase activity|activation of pro-apoptotic gene products|cell surface receptor linked signaling pathway|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|positive regulation of I-kappaB kinase/NF-kappaB cascade	plasma membrane	caspase activator activity|receptor activity|TRAIL binding			NS(1)|endometrium(2)|large_intestine(7)|liver(1)|lung(3)|skin(1)	15		Prostate(55;0.0421)|Breast(100;0.067)		Colorectal(74;0.0179)|COAD - Colon adenocarcinoma(73;0.0703)		GGGGAGCTAGGTCTTGTTGGG	0.572													12	20					0	0	1	0	0	A	22900721	G	A	22900721	2	1	81	1	0	0	0	0	0	0	0	1	16341	1252	44	2		2	TNFRSF10B	8	22900721	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	315990	22900721	123463301	6646	10262											
TNFRSF10D	8793	broad.mit.edu	37	8	23003220	23003220	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:23003220G>T	ENST00000312584.3	-	5	791	c.697C>A	c.(697-699)Cgg>Agg	p.R233R		NM_003840.4	NP_003831.2	Q9UBN6	TR10D_HUMAN	tumor necrosis factor receptor superfamily, member 10d, decoy with truncated death domain	233					anti-apoptosis|apoptosis	integral to membrane	TRAIL binding|transmembrane receptor activity			endometrium(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9		Prostate(55;0.0421)|Breast(100;0.067)		Colorectal(74;0.0147)|COAD - Colon adenocarcinoma(73;0.0612)		AATTTCTTCCGACATGAAAAG	0.517													23	25					1.10513e-12	1.38486e-12	1	1	0	T	23003220	G	T	23003220	2	4	81	1	0	0	0	0	0	0	0	1	16343	1057	37	5		5	TNFRSF10D	8	23003220	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	102499	23003220	123360802	6647	10263											
LOXL2	4017	broad.mit.edu	37	8	23155602	23155602	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:23155602A>G	ENST00000389131.3	-	14	2648	c.2279T>C	c.(2278-2280)tTt>tCt	p.F760S		NM_002318.2	NP_002309.1	Q9Y4K0	LOXL2_HUMAN	lysyl oxidase-like 2	760					aging|cell adhesion|protein modification process	extracellular space|membrane	copper ion binding|electron carrier activity|oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor|scavenger receptor activity			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(55;0.0453)|Breast(100;0.143)		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)		GAAGTGCTCAAACTTTTTTTC	0.537													4	20					0	0	1	0	0	G	23155602	A	G	23155602	3	3	81	1	0	0	0	0	1	0	0	0	8945	14	1	3	49	3	LOXL2	8	23155602	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	152382	23155602	123208420	6648	10264											
LOXL2	4017	broad.mit.edu	37	8	23167278	23167278	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:23167278G>A	ENST00000389131.3	-	10	2152	c.1783C>T	c.(1783-1785)Cgg>Tgg	p.R595W		NM_002318.2	NP_002309.1	Q9Y4K0	LOXL2_HUMAN	lysyl oxidase-like 2	595	Lysyl-oxidase like.				aging|cell adhesion|protein modification process	extracellular space|membrane	copper ion binding|electron carrier activity|oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor|scavenger receptor activity			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(55;0.0453)|Breast(100;0.143)		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)		CGCAGGAGCCGGCGGTAGCCC	0.652													6	15					0	0	1	0	0	A	23167278	G	A	23167278	3	1	81	1	0	0	0	0	1	0	0	0	8945	1115	39	1	561	1	LOXL2	8	23167278	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	11676	23167278	123196744	6649	10265											
LOXL2	4017	broad.mit.edu	37	8	23177529	23177529	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:23177529G>A	ENST00000389131.3	-	8	1708	c.1339C>T	c.(1339-1341)Cga>Tga	p.R447*		NM_002318.2	NP_002309.1	Q9Y4K0	LOXL2_HUMAN	lysyl oxidase-like 2	447	SRCR 4.				aging|cell adhesion|protein modification process	extracellular space|membrane	copper ion binding|electron carrier activity|oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor|scavenger receptor activity			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(55;0.0453)|Breast(100;0.143)		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)		ACCTCCACTCGGCCCTCGTAG	0.652													13	22					0	0	1	0	0	A	23177529	G	A	23177529	4	1	81	1	0	0	0	0	0	1	0	0	8945	1124	39	1	1013	1	LOXL2	8	23177529	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	10251	23177529	123186493	6650	10266											
LOXL2	4017	broad.mit.edu	37	8	23217682	23217682	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:23217682G>A	ENST00000389131.3	-	3	821	c.452C>T	c.(451-453)aCg>aTg	p.T151M	RP11-177H13.2_ENST00000519692.1_RNA	NM_002318.2	NP_002309.1	Q9Y4K0	LOXL2_HUMAN	lysyl oxidase-like 2	151	SRCR 1.				aging|cell adhesion|protein modification process	extracellular space|membrane	copper ion binding|electron carrier activity|oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor|scavenger receptor activity	p.T151M(1)		breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(55;0.0453)|Breast(100;0.143)		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)		GACATCCTCCGTGTGCTTGCA	0.527													13	25					0	0	1	0	0	A	23217682	G	A	23217682	3	1	81	1	0	0	0	0	1	0	0	0	8945	1145	40	1	1920	1	LOXL2	8	23217682	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	40153	23217682	123146340	6651	10267											
ADAM28	10863	broad.mit.edu	37	8	24170973	24170973	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:24170973G>A	ENST00000265769.4	+	6	566	c.456G>A	c.(454-456)gaG>gaA	p.E152E	RP11-624C23.1_ENST00000523578.1_RNA|ADAM28_ENST00000437154.2_Silent_p.E152E|RP11-624C23.1_ENST00000523700.1_RNA|RP11-624C23.1_ENST00000518988.1_RNA|ADAM28_ENST00000540823.1_Intron|ADAM28_ENST00000397649.3_5'UTR|RP11-624C23.1_ENST00000519689.1_RNA	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28	152					proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		ATGGACAGGAGCATGCACTCT	0.468													34	49					0	0	1	0	0	A	24170973	G	A	24170973	2	1	81	1	0	0	0	0	0	0	0	1	245	962	34	2		2	ADAM28	8	24170973	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	953291	24170973	122193049	6652	10268											
ADAM28	10863	broad.mit.edu	37	8	24188819	24188819	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:24188819C>A	ENST00000265769.4	+	12	1370	c.1260C>A	c.(1258-1260)gaC>gaA	p.D420E	RP11-624C23.1_ENST00000523578.1_RNA|ADAM28_ENST00000437154.2_Missense_Mutation_p.D420E|RP11-624C23.1_ENST00000523700.1_RNA|RP11-624C23.1_ENST00000518988.1_RNA|ADAM28_ENST00000540823.1_Missense_Mutation_p.D187E|ADAM28_ENST00000397649.3_Missense_Mutation_p.D167E|RP11-624C23.1_ENST00000519689.1_RNA|ADAM28_ENST00000518516.1_3'UTR	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28	420	Disintegrin.				proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		TGGGAGAGGACTGTGATTGTG	0.393													15	30					0.000422831	0.00045788	1	1	0	A	24188819	C	A	24188819	3	1	81	1	0	0	0	0	1	0	0	0	245	564	20	4	1306	4	ADAM28	8	24188819	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	17846	24188819	122175203	6653	10269											
ADAMDEC1	27299	broad.mit.edu	37	8	24250788	24250788	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:24250788C>T	ENST00000256412.4	+	3	441	c.221C>T	c.(220-222)cCt>cTt	p.P74L	RP11-624C23.1_ENST00000523578.1_RNA|ADAMDEC1_ENST00000522298.1_5'UTR|RP11-624C23.1_ENST00000519689.1_RNA|ADAMDEC1_ENST00000538205.1_5'UTR	NM_014479.3	NP_055294.1	O15204	ADEC1_HUMAN	ADAM-like, decysin 1	74					integrin-mediated signaling pathway|negative regulation of cell adhesion|proteolysis	extracellular region|integral to membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1)	9		Prostate(55;0.0181)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168)		AGGTATGAACCTGAAGTTCAA	0.284													12	36					0	0	1	0	0	T	24250788	C	T	24250788	3	4	81	1	0	0	0	0	1	0	0	0	253	681	24	2	231	2	ADAMDEC1	8	24250788	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	61969	24250788	122113234	6654	10270											
ADAMDEC1	27299	broad.mit.edu	37	8	24256482	24256482	+	Silent	SNP	G	G	A	rs7018313	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:24256482G>A	ENST00000538205.1	+	10	1168	c.621G>A	c.(619-621)acG>acA	p.T207T	RP11-624C23.1_ENST00000523578.1_RNA|ADAMDEC1_ENST00000522298.1_Silent_p.T207T|ADAMDEC1_ENST00000256412.4_Silent_p.T286T|RP11-624C23.1_ENST00000519689.1_RNA	NM_001145271.1	NP_001138743.1	O15204	ADEC1_HUMAN	ADAM-like, decysin 1	286					integrin-mediated signaling pathway|negative regulation of cell adhesion|proteolysis	extracellular region|integral to membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1)	9		Prostate(55;0.0181)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168)		CAAGCACCACGTTTGACAACT	0.488													33	36					0	0	1	0	0	A	24256482	G	A	24256482	2	1	81	1	0	0	0	0	0	0	0	1	253	1132	40	1		1	ADAMDEC1	8	24256482	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	5694	24256482	122107540	6655	10271											
ADAMDEC1	27299	broad.mit.edu	37	8	24256926	24256926	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:24256926G>A	ENST00000538205.1	+	11	1260	c.713G>A	c.(712-714)cGa>cAa	p.R238Q	RP11-624C23.1_ENST00000523578.1_RNA|ADAMDEC1_ENST00000522298.1_Missense_Mutation_p.R238Q|ADAMDEC1_ENST00000256412.4_Missense_Mutation_p.R317Q|RP11-624C23.1_ENST00000519689.1_RNA	NM_001145271.1	NP_001138743.1	O15204	ADEC1_HUMAN	ADAM-like, decysin 1	317	Peptidase M12B.				integrin-mediated signaling pathway|negative regulation of cell adhesion|proteolysis	extracellular region|integral to membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1)	9		Prostate(55;0.0181)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168)		TTCAACAATCGACGTGTGGGA	0.388													47	70					0	0	1	0	0	A	24256926	G	A	24256926	3	1	81	1	0	0	0	0	1	0	0	0	253	1058	37	1	988	1	ADAMDEC1	8	24256926	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	444	24256926	122107096	6656	10272											
ADAM7	8756	broad.mit.edu	37	8	24324368	24324368	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:24324368A>G	ENST00000175238.6	+	6	529	c.446A>G	c.(445-447)gAt>gGt	p.D149G	RP11-624C23.1_ENST00000523578.1_RNA|ADAM7_ENST00000441335.2_Missense_Mutation_p.D149G|RP11-624C23.1_ENST00000519689.1_RNA|ADAM7_ENST00000380789.1_Missense_Mutation_p.D149G	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN	ADAM metallopeptidase domain 7	149					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		AAATACTCAGATGAGGGAGAA	0.388													9	103					0	0	1	0	0	G	24324368	A	G	24324368	3	3	81	1	0	0	0	0	1	0	0	0	250	333	12	3	468	3	ADAM7	8	24324368	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	67442	24324368	122039654	6657	10273											
NEFL	4747	broad.mit.edu	37	8	24811116	24811116	+	RNA	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:24811116C>T	ENST00000221169.5	-	0	1957							P07196	NFL_HUMAN	neurofilament, light polypeptide						anterograde axon cargo transport|axon transport of mitochondrion|neurofilament bundle assembly|retrograde axon cargo transport|synaptic transmission	cytosol|neurofilament	identical protein binding|protein C-terminus binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)	21		Ovarian(32;0.00965)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		ATGGTTTCCTCCACTTCGATC	0.582													18	23					0	0	1	0	0	T	24811116	C	T	24811116	1	4	81	0	1	0	0	0	0	0	0	0	10362	864	30	2		2	NEFL	8	24811116	RNA	SNP	C	TCGA-DU-6392-01A-11D-1705-08	486748	24811116	121552906	6658	10274											
DOCK5	80005	broad.mit.edu	37	8	25159865	25159865	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:25159865C>T	ENST00000276440.7	+	10	915	c.871C>T	c.(871-873)Cgg>Tgg	p.R291W	DOCK5_ENST00000481100.1_Missense_Mutation_p.R291W	NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	291						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		GGACCTCATCCGGCCCCGCGT	0.557													6	23					0	0	1	0	0	T	25159865	C	T	25159865	3	4	81	1	0	0	0	0	1	0	0	0	4717	643	23	1	909	1	DOCK5	8	25159865	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	348749	25159865	121204157	6659	10275											
DOCK5	80005	broad.mit.edu	37	8	25224467	25224467	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:25224467C>T	ENST00000276440.7	+	31	3249	c.3205C>T	c.(3205-3207)Cgc>Tgc	p.R1069C		NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	1069						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		ACAAGCCAAGCGCAACAAAAT	0.383													10	24					0	0	1	0	0	T	25224467	C	T	25224467	3	4	81	1	0	0	0	0	1	0	0	0	4717	768	27	1	3327	1	DOCK5	8	25224467	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	64602	25224467	121139555	6660	10276											
DOCK5	80005	broad.mit.edu	37	8	25230229	25230229	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:25230229G>A	ENST00000276440.7	+	35	3723	c.3679G>A	c.(3679-3681)Gtg>Atg	p.V1227M		NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	1227	DHR-2.					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		CACTGTGAACGTGCTGGTATG	0.557													6	10					0	0	1	0	0	A	25230229	G	A	25230229	3	1	81	1	0	0	0	0	1	0	0	0	4717	1145	40	1	3817	1	DOCK5	8	25230229	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	5762	25230229	121133793	6661	10277											
DOCK5	80005	broad.mit.edu	37	8	25249495	25249495	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:25249495C>A	ENST00000276440.7	+	43	4483	c.4439C>A	c.(4438-4440)gCt>gAt	p.A1480D		NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	1480	DHR-2.					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		AATGAATTTGCTGTGAGTTCA	0.522													11	8					1.58986e-06	1.82794e-06	1	1	0	A	25249495	C	A	25249495	5	1	81	1	0	0	0	0	0	0	1	0	4717	811	28	4	4609	4	DOCK5	8	25249495	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	19266	25249495	121114527	6662	10278											
EBF2	64641	broad.mit.edu	37	8	25890667	25890667	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:25890667C>T	ENST00000520164.1	-	6	1022	c.485G>A	c.(484-486)cGa>cAa	p.R162Q	EBF2_ENST00000408929.3_Missense_Mutation_p.R14Q	NM_022659.3	NP_073150.2	Q9HAK2	COE2_HUMAN	early B-cell factor 2	162		Interaction with DNA (By similarity).			multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)		TTCGCAGCATCGACTGTAGAT	0.398													17	50					0	0	1	0	0	T	25890667	C	T	25890667	3	4	81	1	0	0	0	0	1	0	0	0	4907	884	31	1	1286	1	EBF2	8	25890667	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	641172	25890667	120473355	6663	10279											
PPP2R2A	5520	broad.mit.edu	37	8	26217769	26217769	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:26217769G>T	ENST00000380737.3	+	5	760	c.431G>T	c.(430-432)aGa>aTa	p.R144I	PPP2R2A_ENST00000315985.7_Missense_Mutation_p.R154I	NM_002717.3	NP_002708.1			protein phosphatase 2, regulatory subunit B, alpha											kidney(1)|large_intestine(2)|ovary(1)	4		all_cancers(63;0.086)|Ovarian(32;2.61e-05)|all_epithelial(46;0.0514)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.000754)|Epithelial(17;3.02e-15)|all cancers(2;1.52e-13)|OV - Ovarian serous cystadenocarcinoma(2;1.89e-10)|Colorectal(74;0.155)		GGAAGGTATAGAGATCCTACT	0.343													8	57					0.00307968	0.00324365	1	1	0	T	26217769	G	T	26217769	3	4	81	1	0	0	0	0	1	0	0	0	12433	942	33	4	490	4	PPP2R2A	8	26217769	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	327102	26217769	120146253	6664	10280											
PPP2R2A	5520	broad.mit.edu	37	8	26221333	26221333	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:26221333T>C	ENST00000380737.3	+	8	1228	c.899T>C	c.(898-900)aTg>aCg	p.M300T	PPP2R2A_ENST00000315985.7_Missense_Mutation_p.M310T	NM_002717.3	NP_002708.1			protein phosphatase 2, regulatory subunit B, alpha											kidney(1)|large_intestine(2)|ovary(1)	4		all_cancers(63;0.086)|Ovarian(32;2.61e-05)|all_epithelial(46;0.0514)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.000754)|Epithelial(17;3.02e-15)|all cancers(2;1.52e-13)|OV - Ovarian serous cystadenocarcinoma(2;1.89e-10)|Colorectal(74;0.155)		GGTCGATATATGATGACTAGA	0.363													25	54					0	0	1	0	0	C	26221333	T	C	26221333	3	2	81	1	0	0	0	0	1	0	0	0	12433	1464	51	3	970	3	PPP2R2A	8	26221333	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	3564	26221333	120142689	6665	10281											
PPP2R2A	5520	broad.mit.edu	37	8	26227731	26227731	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:26227731G>A	ENST00000380737.3	+	10	1475	c.1146G>A	c.(1144-1146)tcG>tcA	p.S382S	PPP2R2A_ENST00000315985.7_Silent_p.S392S	NM_002717.3	NP_002708.1			protein phosphatase 2, regulatory subunit B, alpha									p.S382S(1)		kidney(1)|large_intestine(2)|ovary(1)	4		all_cancers(63;0.086)|Ovarian(32;2.61e-05)|all_epithelial(46;0.0514)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.000754)|Epithelial(17;3.02e-15)|all cancers(2;1.52e-13)|OV - Ovarian serous cystadenocarcinoma(2;1.89e-10)|Colorectal(74;0.155)		TAGAAGCATCGCGGGAAAACA	0.418													22	26					0	0	1	0	0	A	26227731	G	A	26227731	2	1	81	1	0	0	0	0	0	0	0	1	12433	1074	38	1		1	PPP2R2A	8	26227731	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	6398	26227731	120136291	6666	10282											
PNMA2	10687	broad.mit.edu	37	8	26366088	26366088	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:26366088C>T	ENST00000522362.2	-	3	1078	c.184G>A	c.(184-186)Gcc>Acc	p.A62T		NM_007257.5	NP_009188.1	Q9UL42	PNMA2_HUMAN	paraneoplastic Ma antigen 2	62					apoptosis	nucleolus	protein binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)	11		all_cancers(63;0.109)|Ovarian(32;2.61e-05)|all_epithelial(46;0.105)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0196)|Epithelial(17;3.13e-11)|Colorectal(74;0.123)		acagcattggcattctcctgc	0.502													10	61					0	0	1	0	0	T	26366088	C	T	26366088	3	4	81	1	0	0	0	0	1	0	0	0	12202	710	25	2	914	2	PNMA2	8	26366088	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	138357	26366088	119997934	6667	10283											
ADRA1A	148	broad.mit.edu	37	8	26623572	26623572	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:26623572C>T	ENST00000354550.4	-	3	1563	c.1364G>A	c.(1363-1365)tGc>tAc	p.C455Y	ADRA1A_ENST00000380586.1_Intron|ADRA1A_ENST00000380582.3_Intron|ADRA1A_ENST00000519229.1_Intron|ADRA1A_ENST00000380587.1_Intron|ADRA1A_ENST00000380581.2_Intron	NM_033304.2	NP_150647.2	P35348	ADA1A_HUMAN	adrenoceptor alpha 1A	0					activation of phospholipase C activity|aging|apoptosis|calcium ion transport into cytosol|cell-cell signaling|intracellular protein kinase cascade|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of synaptic transmission, GABAergic|positive regulation of action potential|positive regulation of cardiac muscle contraction|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase C signaling cascade|positive regulation of vasoconstriction|response to drug|response to hormone stimulus|response to stress|smooth muscle contraction	integral to plasma membrane	alpha1-adrenergic receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|skin(1)	36		all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115)	Alfuzosin(DB00346)|Amiodarone(DB01118)|Amphetamine(DB00182)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Carvedilol(DB01136)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Maprotiline(DB00934)|Mephentermine(DB01365)|Metaraminol(DB00610)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Nefazodone(DB01149)|Nicergoline(DB00699)|Nilutamide(DB00665)|Norepinephrine(DB00368)|Norgestrel(DB00506)|Oxymetazoline(DB00935)|Perphenazine(DB00850)|Phendimetrazine(DB01579)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Prazosin(DB00457)|Promazine(DB00420)|Promethazine(DB01069)|Propericiazine(DB01608)|Propiomazine(DB00777)|Pseudoephedrine(DB00852)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Thioridazine(DB00679)|Tolazoline(DB00797)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Ziprasidone(DB00246)	TGGAGATCAGCATTCTGAACC	0.448													9	82					0	0	1	0	0	T	26623572	C	T	26623572	3	4	81	1	0	0	0	0	1	0	0	0	333	710	25	2	195	2	ADRA1A	8	26623572	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	257484	26623572	119740450	6668	10284											
ADRA1A	148	broad.mit.edu	37	8	26721922	26721922	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:26721922C>T	ENST00000380573.3	-	2	1588	c.565G>A	c.(565-567)Gcg>Acg	p.A189T	ADRA1A_ENST00000380586.1_Missense_Mutation_p.A189T|ADRA1A_ENST00000358857.5_Missense_Mutation_p.A189T|ADRA1A_ENST00000380582.3_Missense_Mutation_p.A189T|ADRA1A_ENST00000519229.1_Missense_Mutation_p.A189T|ADRA1A_ENST00000354550.4_Missense_Mutation_p.A189T|ADRA1A_ENST00000380587.1_Missense_Mutation_p.A189T|ADRA1A_ENST00000380581.2_Missense_Mutation_p.A189T|ADRA1A_ENST00000276393.4_Missense_Mutation_p.A189T|ADRA1A_ENST00000380572.3_Missense_Mutation_p.A189T			P35348	ADA1A_HUMAN	adrenoceptor alpha 1A	189					activation of phospholipase C activity|aging|apoptosis|calcium ion transport into cytosol|cell-cell signaling|intracellular protein kinase cascade|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of synaptic transmission, GABAergic|positive regulation of action potential|positive regulation of cardiac muscle contraction|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase C signaling cascade|positive regulation of vasoconstriction|response to drug|response to hormone stimulus|response to stress|smooth muscle contraction	integral to plasma membrane	alpha1-adrenergic receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|skin(1)	36		all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115)	Alfuzosin(DB00346)|Amiodarone(DB01118)|Amphetamine(DB00182)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Carvedilol(DB01136)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Maprotiline(DB00934)|Mephentermine(DB01365)|Metaraminol(DB00610)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Nefazodone(DB01149)|Nicergoline(DB00699)|Nilutamide(DB00665)|Norepinephrine(DB00368)|Norgestrel(DB00506)|Oxymetazoline(DB00935)|Perphenazine(DB00850)|Phendimetrazine(DB01579)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Prazosin(DB00457)|Promazine(DB00420)|Promethazine(DB01069)|Propericiazine(DB01608)|Propiomazine(DB00777)|Pseudoephedrine(DB00852)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Thioridazine(DB00679)|Tolazoline(DB00797)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Ziprasidone(DB00246)	GAGCCCAGCGCTGAGAAGAGC	0.637													4	17					0	0	1	0	0	T	26721922	C	T	26721922	3	4	81	1	0	0	0	0	1	0	0	0	333	797	28	2	1134	2	ADRA1A	8	26721922	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	98350	26721922	119642100	6669	10285											
TRIM35	23087	broad.mit.edu	37	8	27151645	27151645	+	Silent	SNP	G	G	A	rs144594991	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:27151645G>A	ENST00000305364.4	-	3	797	c.714C>T	c.(712-714)atC>atT	p.I238I	TRIM35_ENST00000521253.1_Silent_p.I206I	NM_171982.3	NP_741983.2	Q9UPQ4	TRI35_HUMAN	tripartite motif containing 35	238					apoptosis|induction of apoptosis|negative regulation of mitotic cell cycle	cytoplasm|nucleus	zinc ion binding			breast(1)|endometrium(6)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	14		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0213)|Epithelial(17;9.34e-10)|Colorectal(74;0.141)		GCAGCCGCTCGATCTCATGTG	0.552													25	30					0	0	1	0	0	A	27151645	G	A	27151645	2	1	81	1	0	0	0	0	0	0	0	1	16570	1048	37	1		1	TRIM35	8	27151645	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	429723	27151645	119212377	6670	10286											
PTK2B	2185	broad.mit.edu	37	8	27287914	27287914	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:27287914G>A	ENST00000397501.1	+	12	1456	c.648G>A	c.(646-648)aaG>aaA	p.K216K	PTK2B_ENST00000338238.4_Silent_p.K216K|PTK2B_ENST00000346049.5_Silent_p.K216K|PTK2B_ENST00000517339.1_Silent_p.K216K|PTK2B_ENST00000544172.1_Silent_p.K216K|PTK2B_ENST00000420218.2_Silent_p.K216K	NM_173174.2	NP_775266.1	Q14289	FAK2_HUMAN	protein tyrosine kinase 2 beta	216	FERM.				apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Ovarian(32;2.72e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)		TTTTCCCAAAGCAGATGCAGG	0.547													25	58					0	0	1	0	0	A	27287914	G	A	27287914	2	1	81	1	0	0	0	0	0	0	0	1	12813	962	34	2		2	PTK2B	8	27287914	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	136269	27287914	119076108	6671	10287											
PTK2B	2185	broad.mit.edu	37	8	27288419	27288419	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:27288419G>A	ENST00000397501.1	+	13	1504	c.696G>A	c.(694-696)caG>caA	p.Q232Q	PTK2B_ENST00000338238.4_Silent_p.Q232Q|PTK2B_ENST00000346049.5_Silent_p.Q232Q|PTK2B_ENST00000517339.1_Silent_p.Q232Q|PTK2B_ENST00000544172.1_Silent_p.Q232Q|PTK2B_ENST00000420218.2_Silent_p.Q232Q|PTK2B_ENST00000397497.4_5'UTR	NM_173174.2	NP_775266.1	Q14289	FAK2_HUMAN	protein tyrosine kinase 2 beta	232	FERM.				apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Ovarian(32;2.72e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)		AGATGATCCAGCAGACCTTCC	0.602													19	35					0	0	1	0	0	A	27288419	G	A	27288419	2	1	81	1	0	0	0	0	0	0	0	1	12813	962	34	2		2	PTK2B	8	27288419	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	505	27288419	119075603	6672	10288											
CLU	1191	broad.mit.edu	37	8	27456013	27456013	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:27456013G>A	ENST00000316403.10	-	8	1709	c.1304C>T	c.(1303-1305)gCg>gTg	p.A435V	CLU_ENST00000523500.1_Missense_Mutation_p.A435V|CLU_ENST00000405140.3_Missense_Mutation_p.A435V|CLU_ENST00000560366.1_Missense_Mutation_p.A487V|CLU_ENST00000546343.1_Missense_Mutation_p.A446V			P10909	CLUS_HUMAN	clusterin	435					chaperone-mediated protein folding|complement activation, classical pathway|innate immune response|lipid metabolic process|negative regulation of apoptosis|negative regulation of protein homooligomerization|platelet activation|platelet degranulation|positive regulation of NF-kappaB transcription factor activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|response to misfolded protein|response to virus|reverse cholesterol transport	chromaffin granule|cytosol|endoplasmic reticulum|microsome|mitochondrial membrane|nucleus|perinuclear region of cytoplasm|platelet alpha granule lumen|spherical high-density lipoprotein particle	misfolded protein binding|ubiquitin protein ligase binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)	21		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|Colorectal(74;0.132)		CGCTTTCTCCGCCACGGTCTC	0.557													38	68					0	0	1	0	0	A	27456013	G	A	27456013	3	1	81	1	0	0	0	0	1	0	0	0	3591	1087	38	1	53	1	CLU	8	27456013	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	167594	27456013	118908009	6673	10289											
SCARA3	51435	broad.mit.edu	37	8	27516827	27516827	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:27516827C>T	ENST00000301904.3	+	5	1160	c.1140C>T	c.(1138-1140)gaC>gaT	p.D380D	SCARA3_ENST00000337221.4_Silent_p.D380D	NM_016240.2	NP_057324.2	Q6AZY7	SCAR3_HUMAN	scavenger receptor class A, member 3	380					response to oxidative stress|UV protection	collagen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	scavenger receptor activity			breast(1)|large_intestine(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	9		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0219)|Colorectal(74;0.148)		ACCTGGATGACGTGCGGCTCT	0.557													22	24					0	0	1	0	0	T	27516827	C	T	27516827	2	4	81	1	0	0	0	0	0	0	0	1	13932	535	19	1		1	SCARA3	8	27516827	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	60814	27516827	118847195	6674	10290											
ESCO2	157570	broad.mit.edu	37	8	27657152	27657152	+	Missense_Mutation	SNP	C	C	T	rs144956719		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:27657152C>T	ENST00000305188.8	+	10	1830	c.1592C>T	c.(1591-1593)gCa>gTa	p.A531V	ESCO2_ENST00000397418.2_Missense_Mutation_p.A179V	NM_001017420.2	NP_001017420.1	Q56NI9	ESCO2_HUMAN	establishment of sister chromatid cohesion N-acetyltransferase 2	531					cell cycle|post-translational protein acetylation|regulation of DNA replication	chromatin|nucleus	acyltransferase activity|metal ion binding			autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Ovarian(32;0.000953)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|KIRC - Kidney renal clear cell carcinoma(542;0.0955)|Kidney(114;0.115)|Colorectal(74;0.132)		CCAGAACCTGCAGTCTGTGGG	0.463									SC Phocomelia syndrome				50	88					0	0	1	0	0	T	27657152	C	T	27657152	3	4	81	1	0	0	0	0	1	0	0	0	5277	710	25	2	1626	2	ESCO2	8	27657152	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	140325	27657152	118706870	6675	10291											
PBK	55872	broad.mit.edu	37	8	27668569	27668569	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:27668569G>A	ENST00000301905.4	-	7	1141	c.678C>T	c.(676-678)gaC>gaT	p.D226D	PBK_ENST00000522944.1_Silent_p.D237D|ESCO2_ENST00000397418.2_Intron	NM_018492.2	NP_060962.2	Q96KB5	TOPK_HUMAN	PDZ binding kinase	226	Protein kinase.				mitosis		ATP binding|protein binding|protein serine/threonine kinase activity			endometrium(1)|large_intestine(2)|lung(1)	4		Ovarian(32;0.000953)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0213)|KIRC - Kidney renal clear cell carcinoma(542;0.101)|Kidney(114;0.121)|Colorectal(74;0.141)		TGTCTGCCTTGTCAGTAATAA	0.418													7	49					0	0	1	0	0	A	27668569	G	A	27668569	2	1	81	1	0	0	0	0	0	0	0	1	11535	1368	48	2		2	PBK	8	27668569	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	11417	27668569	118695453	6676	10292											
PBK	55872	broad.mit.edu	37	8	27680707	27680707	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:27680707C>T	ENST00000301905.4	-	4	631	c.168G>A	c.(166-168)ttG>ttA	p.L56L	PBK_ENST00000522944.1_Silent_p.L56L	NM_018492.2	NP_060962.2	Q96KB5	TOPK_HUMAN	PDZ binding kinase	56	Protein kinase.				mitosis		ATP binding|protein binding|protein serine/threonine kinase activity			endometrium(1)|large_intestine(2)|lung(1)	4		Ovarian(32;0.000953)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0213)|KIRC - Kidney renal clear cell carcinoma(542;0.101)|Kidney(114;0.121)|Colorectal(74;0.141)		GAGAATGAGACAAACCTCTTG	0.289													6	33					0	0	1	0	0	T	27680707	C	T	27680707	2	4	81	1	0	0	0	0	0	0	0	1	11535	477	17	2		2	PBK	8	27680707	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	12138	27680707	118683315	6677	10293											
SCARA5	286133	broad.mit.edu	37	8	27737199	27737199	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:27737199C>T	ENST00000354914.3	-	8	1723	c.1238G>A	c.(1237-1239)cGt>cAt	p.R413H	SCARA5_ENST00000380385.2_Missense_Mutation_p.R188H	NM_173833.5	NP_776194.2	Q6ZMJ2	SCAR5_HUMAN	scavenger receptor class A, member 5 (putative)	413	SRCR.				cellular iron ion homeostasis|endocytosis|iron ion transmembrane transport|protein homotrimerization	integral to plasma membrane	ferritin receptor activity|scavenger receptor activity			central_nervous_system(1)|large_intestine(6)|lung(5)|prostate(3)|skin(3)	18		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)|Colorectal(74;0.228)		GGTGCCCCAACGCCGGTCGTG	0.667													27	36					0	0	1	0	0	T	27737199	C	T	27737199	3	4	81	1	0	0	0	0	1	0	0	0	13933	536	19	1	257	1	SCARA5	8	27737199	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	56492	27737199	118626823	6678	10294											
EXTL3	2137	broad.mit.edu	37	8	28573827	28573827	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:28573827G>A	ENST00000220562.4	+	3	1153	c.251G>A	c.(250-252)cGc>cAc	p.R84H	EXTL3_ENST00000519886.1_Intron|EXTL3_ENST00000523149.1_Intron	NM_001440.2	NP_001431.1	O43909	EXTL3_HUMAN	exostosin-like glycosyltransferase 3	84						integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding|protein binding	p.R84H(1)		biliary_tract(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(8)|ovary(1)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(1)	36		Ovarian(32;0.069)		KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228)		GATCTGTGCCGCATCCGGGAG	0.597													12	24					0	0	1	0	0	A	28573827	G	A	28573827	3	1	81	1	0	0	0	0	1	0	0	0	5355	1087	38	1	253	1	EXTL3	8	28573827	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	836628	28573827	117790195	6679	10295											
EXTL3	2137	broad.mit.edu	37	8	28573840	28573840	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:28573840G>A	ENST00000220562.4	+	3	1166	c.264G>A	c.(262-264)tcG>tcA	p.S88S	EXTL3_ENST00000519886.1_Intron|EXTL3_ENST00000523149.1_Intron	NM_001440.2	NP_001431.1	O43909	EXTL3_HUMAN	exostosin-like glycosyltransferase 3	88						integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding|protein binding	p.S88S(2)		biliary_tract(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(8)|ovary(1)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(1)	36		Ovarian(32;0.069)		KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228)		TCCGGGAGTCGGTGAGTGAAG	0.582													12	27					0	0	1	0	0	A	28573840	G	A	28573840	2	1	81	1	0	0	0	0	0	0	0	1	5355	1103	39	1		1	EXTL3	8	28573840	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	13	28573840	117790182	6680	10296											
EXTL3	2137	broad.mit.edu	37	8	28574068	28574068	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:28574068C>T	ENST00000220562.4	+	3	1394	c.492C>T	c.(490-492)gaC>gaT	p.D164D	EXTL3_ENST00000519886.1_Intron|EXTL3_ENST00000523149.1_Intron	NM_001440.2	NP_001431.1	O43909	EXTL3_HUMAN	exostosin-like glycosyltransferase 3	164						integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding|protein binding			biliary_tract(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(8)|ovary(1)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(1)	36		Ovarian(32;0.069)		KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228)		CAGAGAAGGACGATGCCGGCC	0.602													12	29					0	0	1	0	0	T	28574068	C	T	28574068	2	4	81	1	0	0	0	0	0	0	0	1	5355	535	19	1		1	EXTL3	8	28574068	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	228	28574068	117789954	6681	10297											
HMBOX1	79618	broad.mit.edu	37	8	28906606	28906606	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:28906606G>T	ENST00000523613.1	+	9	1498	c.1166G>T	c.(1165-1167)aGc>aTc	p.S389I	HMBOX1_ENST00000524238.1_Intron|HMBOX1_ENST00000355231.5_Intron|HMBOX1_ENST00000519047.1_Intron|HMBOX1_ENST00000397358.3_Intron|HMBOX1_ENST00000558662.1_Intron|HMBOX1_ENST00000517386.1_Intron|HMBOX1_ENST00000444075.1_Intron|HMBOX1_ENST00000287701.10_Intron			Q6NT76	HMBX1_HUMAN	homeobox containing 1	0					negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	11		Ovarian(32;0.0192)		KIRC - Kidney renal clear cell carcinoma(542;0.135)|Kidney(114;0.161)		TGGTGCCTGAGCAGGGGGTAT	0.582													13	17					1.61879e-10	1.98515e-10	1	1	0	T	28906606	G	T	28906606	3	4	81	1	0	0	0	0	1	0	0	0	7259	986	34	4		4	HMBOX1	8	28906606	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	332538	28906606	117457416	6682	10298											
KIF13B	23303	broad.mit.edu	37	8	29006204	29006204	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:29006204G>T	ENST00000524189.1	-	16	1741	c.1703C>A	c.(1702-1704)tCt>tAt	p.S568Y	KIF13B_ENST00000521515.1_Missense_Mutation_p.S568Y	NM_015254.3	NP_056069.2	Q9NQT8	KI13B_HUMAN	kinesin family member 13B	568					microtubule-based movement|protein targeting|signal transduction|T cell activation	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein kinase binding			endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		CAGCTGCTCAGAACTATTCTC	0.463													35	59					2.48696e-23	3.27521e-23	1	1	0	T	29006204	G	T	29006204	3	4	81	1	0	0	0	0	1	0	0	0	8317	942	33	4	3877	4	KIF13B	8	29006204	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	99598	29006204	117357818	6683	10299											
KIF13B	23303	broad.mit.edu	37	8	29048567	29048567	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:29048567G>A	ENST00000524189.1	-	4	208	c.170C>T	c.(169-171)gCt>gTt	p.A57V	KIF13B_ENST00000521515.1_Missense_Mutation_p.A57V	NM_015254.3	NP_056069.2	Q9NQT8	KI13B_HUMAN	kinesin family member 13B	57	Kinesin-motor.				microtubule-based movement|protein targeting|signal transduction|T cell activation	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein kinase binding			endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		ATGATCATAAGCAAACACCTG	0.343													34	73					0	0	1	0	0	A	29048567	G	A	29048567	3	1	81	1	0	0	0	0	1	0	0	0	8317	971	34	2	5458	2	KIF13B	8	29048567	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	42363	29048567	117315455	6684	10300											
DUSP4	1846	broad.mit.edu	37	8	29194883	29194883	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:29194883G>A	ENST00000240100.2	-	4	1234	c.845C>T	c.(844-846)gCg>gTg	p.A282V	DUSP4_ENST00000240101.2_Missense_Mutation_p.A191V	NM_001394.6	NP_001385.1	Q13115	DUS4_HUMAN	dual specificity phosphatase 4	282	Tyrosine-protein phosphatase.				endoderm formation|inactivation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/threonine phosphatase activity			endometrium(1)|large_intestine(1)|lung(4)	6				KIRC - Kidney renal clear cell carcinoma(542;0.094)|Kidney(114;0.113)		CGAGATGCCCGCCTGGCAGTG	0.637													5	46					0	0	1	0	0	A	29194883	G	A	29194883	3	1	81	1	0	0	0	0	1	0	0	0	4853	1087	38	1	343	1	DUSP4	8	29194883	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	146316	29194883	117169139	6685	10301											
PPP2CB	5516	broad.mit.edu	37	8	30655186	30655186	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:30655186A>G	ENST00000221138.4	-	3	847	c.397T>C	c.(397-399)Tgt>Cgt	p.C133R	PPP2CB_ENST00000518564.1_Intron	NM_001009552.1	NP_001009552.1	P62714	PP2AB_HUMAN	protein phosphatase 2, catalytic subunit, beta isozyme	133					protein dephosphorylation	chromosome, centromeric region|cytoplasm|nucleus|protein phosphatase type 2A complex|spindle pole	metal ion binding			breast(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	9				KIRC - Kidney renal clear cell carcinoma(542;0.095)|Kidney(114;0.114)	Vitamin E(DB00163)	TTTCGCAGACATTCATCATAA	0.378													10	56					0	0	1	0	0	G	30655186	A	G	30655186	3	3	81	1	0	0	0	0	1	0	0	0	12430	217	8	3	552	3	PPP2CB	8	30655186	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	1460303	30655186	115708836	6686	10302											
TEX15	56154	broad.mit.edu	37	8	30700227	30700227	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:30700227C>T	ENST00000256246.2	-	1	6381	c.6307G>A	c.(6307-6309)Gtt>Att	p.V2103I		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	2103										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		TGGCACTGAACCAGCTCAGGA	0.358													16	48					0	0	1	0	0	T	30700227	C	T	30700227	3	4	81	1	0	0	0	0	1	0	0	0	15838	507	18	2	2078	2	TEX15	8	30700227	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	45041	30700227	115663795	6687	10303											
TEX15	56154	broad.mit.edu	37	8	30701743	30701743	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:30701743G>A	ENST00000256246.2	-	1	4865	c.4791C>T	c.(4789-4791)taC>taT	p.Y1597Y		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	1597										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		AATCACTCACGTATGACGCAG	0.403													55	66					0	0	1	0	0	A	30701743	G	A	30701743	2	1	81	1	0	0	0	0	0	0	0	1	15838	1140	40	1		1	TEX15	8	30701743	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1516	30701743	115662279	6688	10304											
WRN	7486	broad.mit.edu	37	8	30922521	30922521	+	Missense_Mutation	SNP	G	G	A	rs61761625		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:30922521G>A	ENST00000298139.5	+	5	695	c.446G>A	c.(445-447)cGt>cAt	p.R149H		NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like	149	3'-5' exonuclease.|Interaction with WRNIP1 (By similarity).				base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding			central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		AAACTTCTACGTGACTTTGAT	0.308			"Mis, N, F, S"			"osteosarcoma, meningioma, others"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome				31	46					0	0	1	0	0	A	30922521	G	A	30922521	3	1	81	1	0	0	0	0	1	0	0	0	17462	1145	40	1	460	1	WRN	8	30922521	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	220778	30922521	115441501	6689	10305											
WRN	7486	broad.mit.edu	37	8	30938402	30938402	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:30938402G>T	ENST00000298139.5	+	9	1108	c.859G>T	c.(859-861)Gat>Tat	p.D287Y		NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like	287					base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding			central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		CTTACTAAAGGATATTTCAGA	0.299			"Mis, N, F, S"			"osteosarcoma, meningioma, others"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome				8	22					0.000157383	0.000171784	1	1	0	T	30938402	G	T	30938402	3	4	81	1	0	0	0	0	1	0	0	0	17462	1174	41	5	889	5	WRN	8	30938402	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	15881	30938402	115425620	6690	10306											
WRN	7486	broad.mit.edu	37	8	30945300	30945300	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:30945300A>T	ENST00000298139.5	+	12	1689	c.1440A>T	c.(1438-1440)gaA>gaT	p.E480D		NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like	480					base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding			central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		AGTCTTTAGAAAACCTCAATA	0.343			"Mis, N, F, S"			"osteosarcoma, meningioma, others"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome				37	74					0	0	1	0	0	T	30945300	A	T	30945300	3	4	81	1	0	0	0	0	1	0	0	0	17462	11	1	5	1482	5	WRN	8	30945300	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	6898	30945300	115418722	6691	10307											
WRN	7486	broad.mit.edu	37	8	30973987	30973987	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:30973987C>T	ENST00000298139.5	+	20	2640	c.2391C>T	c.(2389-2391)ggC>ggT	p.G797G		NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like	797	Helicase C-terminal.				base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding			central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		ACCATGCGGGCATGAGTTTTA	0.398			"Mis, N, F, S"			"osteosarcoma, meningioma, others"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome				39	68					0	0	1	0	0	T	30973987	C	T	30973987	2	4	81	1	0	0	0	0	0	0	0	1	17462	697	25	2		2	WRN	8	30973987	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	28687	30973987	115390035	6692	10308											
NRG1	3084	broad.mit.edu	37	8	32453412	32453412	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:32453412G>A	ENST00000341377.5	+	2	684	c.167G>A	c.(166-168)cGg>cAg	p.R56Q	NRG1_ENST00000287842.3_Missense_Mutation_p.R56Q|NRG1_ENST00000287845.5_Missense_Mutation_p.R56Q|NRG1_ENST00000356819.4_Missense_Mutation_p.R56Q|NRG1_ENST00000405005.3_Missense_Mutation_p.R56Q|NRG1_ENST00000338921.4_Missense_Mutation_p.R56Q|NRG1_ENST00000521670.1_Missense_Mutation_p.R56Q|NRG1_ENST00000523079.1_Missense_Mutation_p.R56Q|NRG1_ENST00000519301.1_Missense_Mutation_p.R35Q|NRG1_ENST00000520407.1_Missense_Mutation_p.R271Q	NM_013964.3	NP_039258.1	Q02297	NRG1_HUMAN	neuregulin 1	56	Ig-like C2-type.				activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	cytokine activity|ErbB-3 class receptor binding|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		CTAGTCCTTCGGTGTGAAACC	0.398													56	78					0	0	1	0	0	A	32453412	G	A	32453412	3	1	81	1	0	0	0	0	1	0	0	0	10695	1116	39	1	924	1	NRG1	8	32453412	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1479425	32453412	113910610	6693	10309											
NRG1	3084	broad.mit.edu	37	8	32474382	32474382	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:32474382G>T	ENST00000341377.5	+	5	998	c.481G>T	c.(481-483)Gaa>Taa	p.E161*	NRG1_ENST00000287842.3_Nonsense_Mutation_p.E161*|NRG1_ENST00000287845.5_Intron|NRG1_ENST00000356819.4_Nonsense_Mutation_p.E161*|NRG1_ENST00000405005.3_Nonsense_Mutation_p.E161*|NRG1_ENST00000338921.4_Nonsense_Mutation_p.E161*|NRG1_ENST00000521670.1_Nonsense_Mutation_p.E161*|NRG1_ENST00000523079.1_Nonsense_Mutation_p.E161*|NRG1_ENST00000519301.1_Intron|NRG1_ENST00000520407.1_Intron	NM_013964.3	NP_039258.1	Q02297	NRG1_HUMAN	neuregulin 1	161					activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	cytokine activity|ErbB-3 class receptor binding|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		AGTATCCACAGAAGGAGCAAA	0.353													5	109					1.23904e-05	1.39156e-05	1	1	0	T	32474382	G	T	32474382	4	4	81	1	0	0	0	0	0	1	0	0	10695	943	33	4	1250	4	NRG1	8	32474382	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	20970	32474382	113889640	6694	10310											
NRG1	3084	broad.mit.edu	37	8	32585588	32585588	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:32585588C>T	ENST00000341377.5	+	6	1141	c.624C>T	c.(622-624)taC>taT	p.Y208Y	NRG1_ENST00000287842.3_Silent_p.Y208Y|NRG1_ENST00000287845.5_Silent_p.Y174Y|NRG1_ENST00000356819.4_Silent_p.Y208Y|NRG1_ENST00000405005.3_Silent_p.Y208Y|NRG1_ENST00000338921.4_Silent_p.Y208Y|NRG1_ENST00000521670.1_Silent_p.Y208Y|NRG1_ENST00000539990.1_Silent_p.Y54Y|NRG1_ENST00000523079.1_Silent_p.Y208Y|NRG1_ENST00000519301.1_Silent_p.Y153Y|NRG1_ENST00000520502.2_Silent_p.Y263Y|NRG1_ENST00000520407.1_Silent_p.Y389Y	NM_013964.3	NP_039258.1	Q02297	NRG1_HUMAN	neuregulin 1	208	EGF-like.				activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	cytokine activity|ErbB-3 class receptor binding|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		CCTCGAGATACTTGTGCAAGT	0.403													35	61					0	0	1	0	0	T	32585588	C	T	32585588	2	4	81	1	0	0	0	0	0	0	0	1	10695	576	20	2		2	NRG1	8	32585588	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	111206	32585588	113778434	6695	10311											
RNF122	79845	broad.mit.edu	37	8	33406360	33406360	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:33406360G>A	ENST00000256257.1	-	6	780	c.379C>T	c.(379-381)Cgc>Tgc	p.R127C		NM_024787.2	NP_079063.2	Q9H9V4	RN122_HUMAN	ring finger protein 122	127						endoplasmic reticulum|Golgi apparatus|integral to membrane	zinc ion binding	p.R127C(1)		endometrium(2)|large_intestine(3)|ovary(1)|upper_aerodigestive_tract(1)	7				KIRC - Kidney renal clear cell carcinoma(67;0.0966)|Kidney(114;0.116)		CAGACACAGCGAACTTCCAGC	0.498													54	55					0	0	1	0	0	A	33406360	G	A	33406360	3	1	81	1	0	0	0	0	1	0	0	0	13484	1058	37	1	92	1	RNF122	8	33406360	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	820772	33406360	112957662	6696	10312											
UNC5D	137970	broad.mit.edu	37	8	35541169	35541169	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:35541169C>T	ENST00000287272.2	+	5	695	c.675C>T	c.(673-675)gaC>gaT	p.D225D	UNC5D_ENST00000404895.2_Silent_p.D225D|UNC5D_ENST00000420357.1_Silent_p.D225D|UNC5D_ENST00000453357.2_Silent_p.D220D|UNC5D_ENST00000416672.1_Silent_p.D225D			Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	225	Ig-like C2-type.				apoptosis|axon guidance	integral to membrane	receptor activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		GGCTCTCGGACTCAGGAAATT	0.517													14	27					0	0	1	0	0	T	35541169	C	T	35541169	2	4	81	1	0	0	0	0	0	0	0	1	17055	564	20	2		2	UNC5D	8	35541169	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2134809	35541169	110822853	6697	10313											
UNC5D	137970	broad.mit.edu	37	8	35579906	35579906	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:35579906C>T	ENST00000453357.2	+	9	1337	c.1281C>T	c.(1279-1281)gtC>gtT	p.V427V	UNC5D_ENST00000287272.2_Intron|UNC5D_ENST00000404895.2_Silent_p.V432V|UNC5D_ENST00000420357.1_Silent_p.V365V|UNC5D_ENST00000416672.1_Silent_p.V437V			Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	432					apoptosis|axon guidance	integral to membrane	receptor activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		TCAAAACAGTCCGTCAAGGTC	0.552													46	83					0	0	1	0	0	T	35579906	C	T	35579906	2	4	81	1	0	0	0	0	0	0	0	1	17055	842	30	2		2	UNC5D	8	35579906	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	38737	35579906	110784116	6698	10314											
UNC5D	137970	broad.mit.edu	37	8	35616915	35616915	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:35616915C>A	ENST00000287272.2	+	13	2054	c.2034C>A	c.(2032-2034)acC>acA	p.T678T	UNC5D_ENST00000449677.1_Silent_p.T323T|UNC5D_ENST00000404895.2_Silent_p.T747T|UNC5D_ENST00000420357.1_Silent_p.T680T|UNC5D_ENST00000453357.2_Silent_p.T742T|UNC5D_ENST00000416672.1_Silent_p.T752T			Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	747					apoptosis|axon guidance	integral to membrane	receptor activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		AAGGGAATACCTTTAGTCTTC	0.418													62	92					1.31726e-23	1.73667e-23	1	1	0	A	35616915	C	A	35616915	2	1	81	1	0	0	0	0	0	0	0	1	17055	668	24	4		4	UNC5D	8	35616915	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	37009	35616915	110747107	6699	10315											
KCNU1	157855	broad.mit.edu	37	8	36793350	36793350	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:36793350C>A	ENST00000399881.3	+	27	3399	c.3362C>A	c.(3361-3363)cCt>cAt	p.P1121H		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	1121						voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		TCTCAGATACCTTTAGGTGAC	0.388													7	89					0.00198382	0.00209725	1	1	0	A	36793350	C	A	36793350	3	1	81	1	0	0	0	0	1	0	0	0	8137	681	24	4	3468	4	KCNU1	8	36793350	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1176435	36793350	109570672	6700	10316											
ZNF703	80139	broad.mit.edu	37	8	37555577	37555577	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:37555577C>T	ENST00000331569.4	+	2	1387	c.1158C>T	c.(1156-1158)caC>caT	p.H386H		NM_025069.1	NP_079345.1	Q9H7S9	ZN703_HUMAN	zinc finger protein 703	386	Gly-rich.				adherens junction assembly|mammary gland epithelial cell differentiation|negative regulation of homotypic cell-cell adhesion|negative regulation of transcription, DNA-dependent|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of mammary gland epithelial cell proliferation|regulation of canonical Wnt receptor signaling pathway|regulation of cell cycle|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein binding|zinc ion binding		FGFR1/ZNF703(2)	breast(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(1)|pancreas(1)	7			BRCA - Breast invasive adenocarcinoma(5;7.93e-25)|LUSC - Lung squamous cell carcinoma(8;1.05e-09)			GAGGTTACCACGGCGCCTCGC	0.736													5	4					0	0	1	0	0	T	37555577	C	T	37555577	2	4	81	1	0	0	0	0	0	0	0	1	18162	535	19	1		1	ZNF703	8	37555577	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	762227	37555577	108808445	6701	10317											
ZNF703	80139	broad.mit.edu	37	8	37556060	37556060	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:37556060C>A	ENST00000331569.4	+	2	1870	c.1641C>A	c.(1639-1641)ccC>ccA	p.P547P		NM_025069.1	NP_079345.1	Q9H7S9	ZN703_HUMAN	zinc finger protein 703	547					adherens junction assembly|mammary gland epithelial cell differentiation|negative regulation of homotypic cell-cell adhesion|negative regulation of transcription, DNA-dependent|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of mammary gland epithelial cell proliferation|regulation of canonical Wnt receptor signaling pathway|regulation of cell cycle|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein binding|zinc ion binding		FGFR1/ZNF703(2)	breast(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(1)|pancreas(1)	7			BRCA - Breast invasive adenocarcinoma(5;7.93e-25)|LUSC - Lung squamous cell carcinoma(8;1.05e-09)			GGTACCACCCCTATGGCAAGA	0.677													3	13					1	1	1	1	0	A	37556060	C	A	37556060	2	1	81	1	0	0	0	0	0	0	0	1	18162	668	24	4		4	ZNF703	8	37556060	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	483	37556060	108807962	6702	10318											
BRF2	55290	broad.mit.edu	37	8	37704663	37704663	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:37704663A>G	ENST00000220659.6	-	3	365	c.245T>C	c.(244-246)gTt>gCt	p.V82A	BRF2_ENST00000520601.1_Missense_Mutation_p.V82A|BRF2_ENST00000521170.1_3'UTR	NM_018310.3	NP_060780.2	Q9HAW0	BRF2_HUMAN	BRF2, RNA polymerase III transcription initiation factor 50 kDa subunit	82					regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter|transcription initiation, DNA-dependent	nucleoplasm	protein binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)	12		Lung NSC(58;0.118)|all_lung(54;0.195)	BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;1.81e-10)			CAACTGCAGAACTCGACAAAG	0.532													33	46					0	0	1	0	0	G	37704663	A	G	37704663	3	3	81	1	0	0	0	0	1	0	0	0	1513	43	2	3	1022	3	BRF2	8	37704663	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	148603	37704663	108659359	6703	10319											
RAB11FIP1	80223	broad.mit.edu	37	8	37728878	37728878	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:37728878G>C	ENST00000330843.4	-	4	3454	c.3442C>G	c.(3442-3444)Ctc>Gtc	p.L1148V	RAB11FIP1_ENST00000522727.1_Intron|RAB11FIP1_ENST00000524118.1_Intron|RAB11FIP1_ENST00000287263.4_Intron|RAB11FIP1_ENST00000523182.1_5'UTR	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 (class I)	1148					protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding			NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			GCCTGGAGGAGTGGCTTCCTC	0.552											OREG0018713	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	37	66					0	0	1	0	0	C	37728878	G	C	37728878	3	2	81	1	0	0	0	0	1	0	0	0	12945	1029	36	4	421	4	RAB11FIP1	8	37728878	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	24215	37728878	108635144	6704	10320											
RAB11FIP1	80223	broad.mit.edu	37	8	37732659	37732659	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:37732659C>A	ENST00000330843.4	-	3	1008	c.996G>T	c.(994-996)aaG>aaT	p.K332N	RAB11FIP1_ENST00000522727.1_Missense_Mutation_p.K184N|RAB11FIP1_ENST00000524118.1_Missense_Mutation_p.K184N|RAB11FIP1_ENST00000287263.4_Missense_Mutation_p.K332N	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 (class I)	332				EAK -> QPT (in Ref. 1; AAM09571).	protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding			NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			TGATCTCACCCTTGGCTTCTG	0.517													30	375					9.04072e-19	1.17483e-18	1	1	0	A	37732659	C	A	37732659	3	1	81	1	0	0	0	0	1	0	0	0	12945	680	24	4	2871	4	RAB11FIP1	8	37732659	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3781	37732659	108631363	6705	10321											
GOT1L1	137362	broad.mit.edu	37	8	37793302	37793302	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:37793302C>A	ENST00000307599.4	-	7	948	c.849G>T	c.(847-849)caG>caT	p.Q283H	GOT1L1_ENST00000518826.1_Missense_Mutation_p.Q24H	NM_152413.2	NP_689626.2	Q8NHS2	AATC2_HUMAN	glutamic-oxaloacetic transaminase 1-like 1	283					biosynthetic process|cellular amino acid metabolic process	cytoplasm	pyridoxal phosphate binding|transaminase activity			central_nervous_system(1)|endometrium(3)|lung(8)|ovary(1)|prostate(1)	14	Colorectal(12;0.00627)	Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;1.37e-11)			GCCACAGGGCCTGGGCTAATC	0.592													6	40					0.00116845	0.00124301	1	1	0	A	37793302	C	A	37793302	3	1	81	1	0	0	0	0	1	0	0	0	6619	680	24	4	428	4	GOT1L1	8	37793302	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	60643	37793302	108570720	6706	10322											
ASH2L	9070	broad.mit.edu	37	8	37967910	37967910	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:37967910T>C	ENST00000343823.6	+	4	724	c.415T>C	c.(415-417)Ttc>Ctc	p.F139L	ASH2L_ENST00000521652.1_Missense_Mutation_p.F45L|ASH2L_ENST00000428278.2_Missense_Mutation_p.F45L|ASH2L_ENST00000250635.7_Missense_Mutation_p.F45L|ASH2L_ENST00000545394.1_5'UTR	NM_004674.4	NP_004665.2	Q9UBL3	ASH2L_HUMAN	ash2 (absent, small, or homeotic)-like (Drosophila)	139					hemopoiesis|histone H3-K4 methylation|positive regulation of cell proliferation|regulation of transcription, DNA-dependent|response to estrogen stimulus|transcription from RNA polymerase II promoter	Set1C/COMPASS complex	metal ion binding|protein binding|transcription regulatory region DNA binding	p.F139L(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|stomach(1)	19	Colorectal(12;0.000501)	Lung NSC(58;0.0295)|all_lung(54;0.0413)				CTGTCTACCTTTCATGACCAA	0.408													10	74					0	0	1	0	0	C	37967910	T	C	37967910	3	2	81	1	0	0	0	0	1	0	0	0	1041	1841	64	3	429	3	ASH2L	8	37967910	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	174608	37967910	108396112	6707	10323											
ASH2L	9070	broad.mit.edu	37	8	37985945	37985945	+	Silent	SNP	C	C	T	rs145960167	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:37985945C>T	ENST00000343823.6	+	11	1611	c.1302C>T	c.(1300-1302)acC>acT	p.T434T	ASH2L_ENST00000521652.1_Silent_p.T340T|ASH2L_ENST00000428278.2_Silent_p.T340T|ASH2L_ENST00000250635.7_Silent_p.T340T|ASH2L_ENST00000545394.1_Silent_p.T295T	NM_004674.4	NP_004665.2	Q9UBL3	ASH2L_HUMAN	ash2 (absent, small, or homeotic)-like (Drosophila)	434	B30.2/SPRY.				hemopoiesis|histone H3-K4 methylation|positive regulation of cell proliferation|regulation of transcription, DNA-dependent|response to estrogen stimulus|transcription from RNA polymerase II promoter	Set1C/COMPASS complex	metal ion binding|protein binding|transcription regulatory region DNA binding			NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|stomach(1)	19	Colorectal(12;0.000501)	Lung NSC(58;0.0295)|all_lung(54;0.0413)				CACCAGATACCGCTGCCAGAC	0.532													14	25					0	0	1	0	0	T	37985945	C	T	37985945	2	4	81	1	0	0	0	0	0	0	0	1	1041	639	23	1		1	ASH2L	8	37985945	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	18035	37985945	108378077	6708	10324											
BAG4	9530	broad.mit.edu	37	8	38065263	38065263	+	Silent	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:38065263T>A	ENST00000287322.4	+	3	883	c.612T>A	c.(610-612)gtT>gtA	p.V204V	BAG4_ENST00000432471.2_Silent_p.V168V	NM_004874.3	NP_004865.1	O95429	BAG4_HUMAN	BCL2-associated athanogene 4	204					anti-apoptosis|apoptosis|protein folding	cytoplasm|nucleus	receptor signaling protein activity			breast(1)|kidney(2)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|urinary_tract(1)	11	Colorectal(12;0.000442)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.121)				GGGGGCAGGTTCCAGGATATC	0.483													4	54					0	0	1	0	0	A	38065263	T	A	38065263	2	1	81	1	0	0	0	0	0	0	0	1	1287	1770	62	5		5	BAG4	8	38065263	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	79318	38065263	108298759	6709	10325											
DDHD2	23259	broad.mit.edu	37	8	38090666	38090666	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:38090666T>G	ENST00000397166.2	+	2	679	c.154T>G	c.(154-156)Tct>Gct	p.S52A	DDHD2_ENST00000520272.2_Missense_Mutation_p.S52A	NM_015214.2	NP_056029.2	O94830	DDHD2_HUMAN	DDHD domain containing 2	52	WWE.				lipid catabolic process	centrosome	hydrolase activity|metal ion binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)|urinary_tract(2)	28	Colorectal(12;0.000442)	all_lung(54;0.0657)|Lung NSC(58;0.175)	BRCA - Breast invasive adenocarcinoma(5;3.76e-25)|COAD - Colon adenocarcinoma(9;0.0977)			GATAATAGATTCTAAGGAGAC	0.403													25	42					0	0	1	0	0	G	38090666	T	G	38090666	3	3	81	1	0	0	0	0	1	0	0	0	4350	1783	62	5	156	5	DDHD2	8	38090666	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	25403	38090666	108273356	6710	10326											
DDHD2	23259	broad.mit.edu	37	8	38092032	38092032	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:38092032C>T	ENST00000397166.2	+	3	866	c.341C>T	c.(340-342)aCg>aTg	p.T114M	DDHD2_ENST00000520272.2_Missense_Mutation_p.T114M	NM_015214.2	NP_056029.2	O94830	DDHD2_HUMAN	DDHD domain containing 2	114					lipid catabolic process	centrosome	hydrolase activity|metal ion binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)|urinary_tract(2)	28	Colorectal(12;0.000442)	all_lung(54;0.0657)|Lung NSC(58;0.175)	BRCA - Breast invasive adenocarcinoma(5;3.76e-25)|COAD - Colon adenocarcinoma(9;0.0977)			AGACGATGTACGTGGTTTTAC	0.438													66	92					0	0	1	0	0	T	38092032	C	T	38092032	3	4	81	1	0	0	0	0	1	0	0	0	4350	536	19	1	347	1	DDHD2	8	38092032	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1366	38092032	108271990	6711	10327											
DDHD2	23259	broad.mit.edu	37	8	38099780	38099780	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:38099780G>A	ENST00000397166.2	+	7	1250	c.725G>A	c.(724-726)cGc>cAc	p.R242H	DDHD2_ENST00000520272.2_Missense_Mutation_p.R242H|DDHD2_ENST00000528888.1_3'UTR	NM_015214.2	NP_056029.2	O94830	DDHD2_HUMAN	DDHD domain containing 2	242					lipid catabolic process	centrosome	hydrolase activity|metal ion binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)|urinary_tract(2)	28	Colorectal(12;0.000442)	all_lung(54;0.0657)|Lung NSC(58;0.175)	BRCA - Breast invasive adenocarcinoma(5;3.76e-25)|COAD - Colon adenocarcinoma(9;0.0977)			AATGATTTTCGCAGTGTTTCC	0.358													16	29					0	0	1	0	0	A	38099780	G	A	38099780	3	1	81	1	0	0	0	0	1	0	0	0	4350	1087	38	1	809	1	DDHD2	8	38099780	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	7748	38099780	108264242	6712	10328											
DDHD2	23259	broad.mit.edu	37	8	38099827	38099827	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:38099827G>T	ENST00000397166.2	+	7	1297	c.772G>T	c.(772-774)Gaa>Taa	p.E258*	DDHD2_ENST00000520272.2_Nonsense_Mutation_p.E258*|DDHD2_ENST00000528888.1_3'UTR	NM_015214.2	NP_056029.2	O94830	DDHD2_HUMAN	DDHD domain containing 2	258					lipid catabolic process	centrosome	hydrolase activity|metal ion binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)|urinary_tract(2)	28	Colorectal(12;0.000442)	all_lung(54;0.0657)|Lung NSC(58;0.175)	BRCA - Breast invasive adenocarcinoma(5;3.76e-25)|COAD - Colon adenocarcinoma(9;0.0977)			GAAAGCCCAAGAAAATCAGCA	0.378													5	44					3.59834e-05	3.99423e-05	1	1	0	T	38099827	G	T	38099827	4	4	81	1	0	0	0	0	0	1	0	0	4350	943	33	4	856	4	DDHD2	8	38099827	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	47	38099827	108264195	6713	10329											
PPAPDC1B	84513	broad.mit.edu	37	8	38124795	38124795	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:38124795T>C	ENST00000529359.1	-	4	528	c.330A>G	c.(328-330)ggA>ggG	p.G110G	PPAPDC1B_ENST00000424479.2_Silent_p.G151G|PPAPDC1B_ENST00000531823.1_Silent_p.G19G|PPAPDC1B_ENST00000422581.2_Silent_p.G151G|PPAPDC1B_ENST00000419686.2_Silent_p.G151G			Q8NEB5	PPC1B_HUMAN	phosphatidic acid phosphatase type 2 domain containing 1B	151	Phosphatase sequence motif I.				phospholipid dephosphorylation	cytoplasm|integral to membrane|plasma membrane	phosphatidate phosphatase activity			kidney(1)|lung(1)	2	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.121)	BRCA - Breast invasive adenocarcinoma(5;3.04e-26)|COAD - Colon adenocarcinoma(9;0.188)			AGGAAGAATGTCCACTGGGGA	0.453													25	31					0	0	1	0	0	C	38124795	T	C	38124795	2	2	81	1	0	0	0	0	0	0	0	1	12339	1654	58	3		3	PPAPDC1B	8	38124795	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	24968	38124795	108239227	6714	10330											
WHSC1L1	54904	broad.mit.edu	37	8	38162272	38162272	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:38162272C>T	ENST00000317025.8	-	14	2961	c.2444G>A	c.(2443-2445)cGc>cAc	p.R815H	WHSC1L1_ENST00000433384.2_Missense_Mutation_p.R815H|WHSC1L1_ENST00000527502.1_Missense_Mutation_p.R815H	NM_023034.1	NP_075447.1	Q9BZ95	NSD3_HUMAN	Wolf-Hirschhorn syndrome candidate 1-like 1	815					cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome	histone-lysine N-methyltransferase activity|zinc ion binding			NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)			TCTCATCATGCGGCCTGTTTA	0.438			T	NUP98	AML								19	38					0	0	1	0	0	T	38162272	C	T	38162272	3	4	81	1	0	0	0	0	1	0	0	0	17423	768	27	1	1913	1	WHSC1L1	8	38162272	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	37477	38162272	108201750	6715	10331											
WHSC1L1	54904	broad.mit.edu	37	8	38173513	38173513	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:38173513G>A	ENST00000317025.8	-	10	2420	c.1903C>T	c.(1903-1905)Cgc>Tgc	p.R635C	WHSC1L1_ENST00000433384.2_Missense_Mutation_p.R635C|WHSC1L1_ENST00000527502.1_Missense_Mutation_p.R635C	NM_023034.1	NP_075447.1	Q9BZ95	NSD3_HUMAN	Wolf-Hirschhorn syndrome candidate 1-like 1	635					cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome	histone-lysine N-methyltransferase activity|zinc ion binding			NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)			GTTGAGGCGCGACTCCTTTTC	0.403			T	NUP98	AML								26	47					0	0	1	0	0	A	38173513	G	A	38173513	3	1	81	1	0	0	0	0	1	0	0	0	17423	1058	37	1	2470	1	WHSC1L1	8	38173513	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	11241	38173513	108190509	6716	10332											
WHSC1L1	54904	broad.mit.edu	37	8	38187117	38187117	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:38187117G>A	ENST00000317025.8	-	6	1877	c.1360C>T	c.(1360-1362)Cgg>Tgg	p.R454W	WHSC1L1_ENST00000316985.3_Missense_Mutation_p.R454W|WHSC1L1_ENST00000433384.2_Missense_Mutation_p.R454W|WHSC1L1_ENST00000527502.1_Missense_Mutation_p.R454W	NM_023034.1	NP_075447.1	Q9BZ95	NSD3_HUMAN	Wolf-Hirschhorn syndrome candidate 1-like 1	454					cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome	histone-lysine N-methyltransferase activity|zinc ion binding			NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)			CTTGTGTGCCGCCTCTGGCTA	0.517			T	NUP98	AML								34	45					0	0	1	0	0	A	38187117	G	A	38187117	3	1	81	1	0	0	0	0	1	0	0	0	17423	1086	38	1	3116	1	WHSC1L1	8	38187117	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	13604	38187117	108176905	6717	10333											
FGFR1	2260	broad.mit.edu	37	8	38285863	38285863	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:38285863C>T	ENST00000447712.2	-	4	1390		c.e4+1		FGFR1_ENST00000326324.6_Intron|FGFR1_ENST00000397103.1_Intron|FGFR1_ENST00000532791.1_Splice_Site|FGFR1_ENST00000397091.5_Intron|FGFR1_ENST00000356207.5_Splice_Site|FGFR1_ENST00000397113.2_Intron|FGFR1_ENST00000425967.3_Intron|FGFR1_ENST00000341462.5_Intron|FGFR1_ENST00000397108.4_Intron|FGFR1_ENST00000335922.5_Splice_Site	NM_001174063.1|NM_015850.3|NM_023110.2	NP_001167534.1|NP_056934.2|NP_075598.2	P11362	FGFR1_HUMAN	fibroblast growth factor receptor 1						axon guidance|cell growth|insulin receptor signaling pathway|MAPKKK cascade|positive regulation of cell proliferation|skeletal system development	extracellular region|integral to plasma membrane|membrane fraction	ATP binding|fibroblast growth factor receptor activity|heparin binding|protein homodimerization activity		FGFR1/ZNF703(2)	breast(2)|central_nervous_system(7)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	50	all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442)	Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065)	Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24)		Palifermin(DB00039)	CAGTGTCTCACGCATACGGTT	0.512		1	T	"BCR, FOP, ZNF198, CEP1"	"MPD, NHL"		"Pfeiffer syndrome, Kallman syndrome"						13	28					0	0	1	0	0	T	38285863	C	T	38285863	5	4	81	1	0	0	0	0	0	0	1	0	5896	550	19	1	2319	1	FGFR1	8	38285863	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	98746	38285863	108078159	6718	10334											
C8orf86	389649	broad.mit.edu	37	8	38386085	38386085	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:38386085C>T	ENST00000358138.1	-	1	95	c.71G>A	c.(70-72)aGc>aAc	p.S24N	C8orf86_ENST00000437935.2_Missense_Mutation_p.S24N	NM_207412.1	NP_997295.1	Q6ZUL3	CH086_HUMAN	chromosome 8 open reading frame 86	24										breast(1)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	5						GTCTCTAAGGCTCCTGCCAAC	0.552													23	25					0	0	1	0	0	T	38386085	C	T	38386085	3	4	81	1	0	0	0	0	1	0	0	0	2460	797	28	2	612	2	C8orf86	8	38386085	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	100222	38386085	107977937	6719	10335											
PLEKHA2	59339	broad.mit.edu	37	8	38809772	38809772	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:38809772G>A	ENST00000420274.1	+	7	809	c.575G>A	c.(574-576)cGt>cAt	p.R192H	PLEKHA2_ENST00000521746.1_Missense_Mutation_p.R192H|PLEKHA2_ENST00000388745.4_3'UTR	NM_021623.1	NP_067636.1	Q9HB19	PKHA2_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 2	192					positive regulation of cell-matrix adhesion	cytoplasm|nucleus|plasma membrane|protein complex	fibronectin binding|laminin binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	13		all_lung(54;0.0413)|Lung NSC(58;0.115)|Hepatocellular(245;0.152)	LUSC - Lung squamous cell carcinoma(45;4.68e-08)|COAD - Colon adenocarcinoma(9;0.235)			TCAGGCTGCCGTGCTTCCACT	0.582													7	9					0	0	1	0	0	A	38809772	G	A	38809772	3	1	81	1	0	0	0	0	1	0	0	0	12104	1145	40	1	597	1	PLEKHA2	8	38809772	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	423687	38809772	107554250	6720	10336											
HTRA4	203100	broad.mit.edu	37	8	38832617	38832617	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:38832617G>A	ENST00000302495.4	+	2	634	c.534G>A	c.(532-534)gcG>gcA	p.A178A		NM_153692.3	NP_710159.1	P83105	HTRA4_HUMAN	HtrA serine peptidase 4	178					proteolysis|regulation of cell growth	extracellular region	insulin-like growth factor binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)	11		all_lung(54;0.0344)|Hepatocellular(245;0.0512)|Lung NSC(58;0.0955)	LUSC - Lung squamous cell carcinoma(45;1.5e-07)			AGAAGGTGGCGCCATCGGTGG	0.577													50	94					0	0	1	0	0	A	38832617	G	A	38832617	2	1	81	1	0	0	0	0	0	0	0	1	7500	1074	38	1		1	HTRA4	8	38832617	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	22845	38832617	107531405	6721	10337											
HTRA4	203100	broad.mit.edu	37	8	38840057	38840057	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:38840057G>A	ENST00000302495.4	+	7	1255	c.1155G>A	c.(1153-1155)atG>atA	p.M385I		NM_153692.3	NP_710159.1	P83105	HTRA4_HUMAN	HtrA serine peptidase 4	385	PDZ.				proteolysis|regulation of cell growth	extracellular region	insulin-like growth factor binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)	11		all_lung(54;0.0344)|Hepatocellular(245;0.0512)|Lung NSC(58;0.0955)	LUSC - Lung squamous cell carcinoma(45;1.5e-07)			GTCTGCAAATGCTGTCCCTCA	0.413													47	62					0	0	1	0	0	A	38840057	G	A	38840057	3	1	81	1	0	0	0	0	1	0	0	0	7500	1319	46	2	1181	2	HTRA4	8	38840057	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	7440	38840057	107523965	6722	10338											
ADAM9	8754	broad.mit.edu	37	8	38884200	38884200	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:38884200G>T	ENST00000487273.2	+	11	1079	c.1001G>T	c.(1000-1002)gGa>gTa	p.G334V		NM_003816.2	NP_003807.1	Q13443	ADAM9_HUMAN	ADAM metallopeptidase domain 9	334	Peptidase M12B.				activation of MAPKK activity|cell-cell adhesion mediated by integrin|cell-matrix adhesion|keratinocyte differentiation|monocyte activation|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell adhesion mediated by integrin|positive regulation of keratinocyte migration|positive regulation of macrophage fusion|positive regulation of membrane protein ectodomain proteolysis|positive regulation of protein secretion|response to calcium ion|response to glucocorticoid stimulus|response to hydrogen peroxide|response to manganese ion|response to tumor necrosis factor|transforming growth factor beta receptor signaling pathway	extracellular space|integral to membrane|intrinsic to external side of plasma membrane	collagen binding|integrin binding|laminin binding|metalloendopeptidase activity|protein kinase C binding|SH3 domain binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.0153)	LUSC - Lung squamous cell carcinoma(45;2.74e-07)			GAACAGTTTGGACAAATCACT	0.373													10	142					3.86212e-05	4.27865e-05	1	1	0	T	38884200	G	T	38884200	3	4	81	1	0	0	0	0	1	0	0	0	252	1174	41	5	1043	5	ADAM9	8	38884200	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	44143	38884200	107479822	6723	10339											
ADAM9	8754	broad.mit.edu	37	8	38940565	38940565	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:38940565A>G	ENST00000487273.2	+	18	2119	c.2041A>G	c.(2041-2043)Agt>Ggt	p.S681G		NM_003816.2	NP_003807.1	Q13443	ADAM9_HUMAN	ADAM metallopeptidase domain 9	681	EGF-like.				activation of MAPKK activity|cell-cell adhesion mediated by integrin|cell-matrix adhesion|keratinocyte differentiation|monocyte activation|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell adhesion mediated by integrin|positive regulation of keratinocyte migration|positive regulation of macrophage fusion|positive regulation of membrane protein ectodomain proteolysis|positive regulation of protein secretion|response to calcium ion|response to glucocorticoid stimulus|response to hydrogen peroxide|response to manganese ion|response to tumor necrosis factor|transforming growth factor beta receptor signaling pathway	extracellular space|integral to membrane|intrinsic to external side of plasma membrane	collagen binding|integrin binding|laminin binding|metalloendopeptidase activity|protein kinase C binding|SH3 domain binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.0153)	LUSC - Lung squamous cell carcinoma(45;2.74e-07)			ATACGGAGGAAGTGTGGACAG	0.418													4	43					0	0	1	0	0	G	38940565	A	G	38940565	3	3	81	1	0	0	0	0	1	0	0	0	252	72	3	3	2111	3	ADAM9	8	38940565	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	56365	38940565	107423457	6724	10340											
ADAM18	8749	broad.mit.edu	37	8	39505913	39505913	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:39505913G>T	ENST00000265707.5	+	12	1142	c.1097G>T	c.(1096-1098)aGa>aTa	p.R366I	ADAM18_ENST00000541111.1_Intron|ADAM18_ENST00000379866.1_Missense_Mutation_p.R342I	NM_014237.2	NP_055052.1	Q9Y3Q7	ADA18_HUMAN	ADAM metallopeptidase domain 18	366	Peptidase M12B.				cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding			NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			CACGACTATAGATATTTTGTT	0.348													20	41					3.10358e-05	3.46628e-05	1	1	0	T	39505913	G	T	39505913	3	4	81	1	0	0	0	0	1	0	0	0	238	942	33	4	1143	4	ADAM18	8	39505913	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	565348	39505913	106858109	6725	10341											
ADAM18	8749	broad.mit.edu	37	8	39550173	39550173	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:39550173G>A	ENST00000265707.5	+	17	1921	c.1876G>A	c.(1876-1878)Gcc>Acc	p.A626T	ADAM18_ENST00000523755.1_3'UTR|ADAM18_ENST00000541111.1_Missense_Mutation_p.A40T|ADAM18_ENST00000379866.1_Missense_Mutation_p.A602T	NM_014237.2	NP_055052.1	Q9Y3Q7	ADA18_HUMAN	ADAM metallopeptidase domain 18	626	EGF-like.				cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding			NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			TAACTGTAATGCCACCACAAA	0.303													23	35					0	0	1	0	0	A	39550173	G	A	39550173	3	1	81	1	0	0	0	0	1	0	0	0	238	1319	46	2	1942	2	ADAM18	8	39550173	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	44260	39550173	106813849	6726	10342											
ADAM18	8749	broad.mit.edu	37	8	39550197	39550197	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:39550197G>T	ENST00000265707.5	+	17	1945	c.1900G>T	c.(1900-1902)Ggg>Tgg	p.G634W	ADAM18_ENST00000523755.1_3'UTR|ADAM18_ENST00000541111.1_Missense_Mutation_p.G48W|ADAM18_ENST00000379866.1_Missense_Mutation_p.G610W	NM_014237.2	NP_055052.1	Q9Y3Q7	ADA18_HUMAN	ADAM metallopeptidase domain 18	634	EGF-like.				cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding			NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			CAAAGGGAAAGGGGTAAGTCA	0.338													5	48					3.59834e-05	3.99423e-05	1	1	0	T	39550197	G	T	39550197	3	4	81	1	0	0	0	0	1	0	0	0	238	1000	35	4	1966	4	ADAM18	8	39550197	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	24	39550197	106813825	6727	10343											
ZMAT4	79698	broad.mit.edu	37	8	40554769	40554769	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:40554769G>A	ENST00000297737.6	-	4	490	c.344C>T	c.(343-345)aCc>aTc	p.T115I	ZMAT4_ENST00000315769.7_Missense_Mutation_p.T115I	NM_024645.2	NP_078921.1	Q9H898	ZMAT4_HUMAN	zinc finger, matrin-type 4	115						nucleus	DNA binding|zinc ion binding	p.T115I(1)		NS(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	18	Ovarian(28;0.00724)|Colorectal(14;0.0468)	all_cancers(7;0.00936)|all_epithelial(6;3.53e-06)|all_lung(54;0.0318)|Lung NSC(58;0.0919)|Esophageal squamous(32;0.15)|Hepatocellular(245;0.152)	LUSC - Lung squamous cell carcinoma(45;0.00722)			CGTACCTGTGGTCTTTAATGG	0.507													38	76					0	0	1	0	0	A	40554769	G	A	40554769	3	1	81	1	0	0	0	0	1	0	0	0	17752	1261	44	2	361	2	ZMAT4	8	40554769	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1004572	40554769	105809253	6728	10344											
SFRP1	6422	broad.mit.edu	37	8	41122976	41122977	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:41122976_41122977insT	ENST00000220772.3	-	3	991_992	c.654_655insA	c.(652-657)aaagaafs	p.E219fs	SFRP1_ENST00000379845.3_Frame_Shift_Ins_p.E83fs	NM_003012.4	NP_003003.3	Q8N474	SFRP1_HUMAN	secreted frizzled-related protein 1	219	NTR.				brain development|canonical Wnt receptor signaling pathway|cellular response to BMP stimulus|cellular response to estradiol stimulus|cellular response to fibroblast growth factor stimulus|cellular response to heparin|cellular response to hypoxia|cellular response to interleukin-1|cellular response to prostaglandin E stimulus|cellular response to starvation|cellular response to transforming growth factor beta stimulus|cellular response to tumor necrosis factor|cellular response to vitamin D|DNA fragmentation involved in apoptotic nuclear change|dorsal/ventral axis specification|hemopoietic progenitor cell differentiation|hemopoietic stem cell differentiation|menstrual cycle phase|negative regulation of androgen receptor signaling pathway|negative regulation of B cell differentiation|negative regulation of bone remodeling|negative regulation of canonical Wnt receptor signaling pathway involved in controlling type B pancreatic cell proliferation|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cysteine-type endopeptidase activity|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast apoptosis|negative regulation of fibroblast proliferation|negative regulation of insulin secretion|negative regulation of ossification|negative regulation of osteoblast proliferation|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|osteoblast differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell growth|positive regulation of epithelial cell proliferation|positive regulation of fat cell differentiation|positive regulation of fibroblast apoptosis|positive regulation of focal adhesion assembly|positive regulation of non-canonical Wnt receptor signaling pathway|positive regulation of Rac GTPase activity|positive regulation of smoothened signaling pathway|positive regulation of stress fiber assembly|positive regulation of transcription, DNA-dependent|regulation of angiogenesis|regulation of cell cycle process|response to drug|response to organic cyclic compound|vasculature development	cell surface|cytosol|extracellular space|plasma membrane|proteinaceous extracellular matrix	cysteine-type endopeptidase activity|drug binding|frizzled binding|heparin binding|identical protein binding|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			breast(1)|central_nervous_system(1)|large_intestine(2)|liver(1)|lung(1)|skin(1)	7	Breast(1;9.19e-13)|Ovarian(28;0.00769)|Colorectal(14;0.0305)|Lung SC(25;0.211)	all_lung(54;0.0034)|Lung NSC(58;0.0134)|Hepatocellular(245;0.023)|Esophageal squamous(32;0.0559)	BRCA - Breast invasive adenocarcinoma(1;1.11e-10)|LUSC - Lung squamous cell carcinoma(45;0.00894)|COAD - Colon adenocarcinoma(11;0.0174)			TCGCCATTTTCTTTTTTCACTT	0.421													18	36	---	---	---	---						T	41122977	-	T	41122976	7	5	81	1	0	1	1	0	0	0	0	0	14215	922	32	0	293	0	SFRP1	8	41122976	Frame_Shift_Ins	INS	-	TCGA-DU-6392-01A-11D-1705-08	568207	41122976	105241046	6729	10345											
ANK1	286	broad.mit.edu	37	8	41559097	41559097	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:41559097T>C	ENST00000396942.1	-	22	2515	c.2432A>G	c.(2431-2433)gAt>gGt	p.D811G	ANK1_ENST00000352337.4_Missense_Mutation_p.D811G|ANK1_ENST00000265709.8_Missense_Mutation_p.D844G|ANK1_ENST00000347528.4_Missense_Mutation_p.D811G|ANK1_ENST00000289734.7_Missense_Mutation_p.D811G|ANK1_ENST00000396945.1_Missense_Mutation_p.D811G|ANK1_ENST00000379758.2_Missense_Mutation_p.D811G			P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	811	89 kDa domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			CAGGATCTCATCAACTGTCTC	0.493											OREG0018740	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	83					0	0	1	0	0	C	41559097	T	C	41559097	3	2	81	1	0	0	0	0	1	0	0	0	616	1435	50	3	3651	3	ANK1	8	41559097	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	436121	41559097	104804925	6730	10346											
IKBKB	3551	broad.mit.edu	37	8	42163935	42163935	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:42163935G>A	ENST00000520810.1	+	7	738	c.552G>A	c.(550-552)ggG>ggA	p.G184G	IKBKB_ENST00000416505.2_Silent_p.G125G|IKBKB_ENST00000520835.1_Silent_p.G182G|IKBKB_ENST00000379708.3_Intron|IKBKB_ENST00000522147.1_Intron|IKBKB_ENST00000519735.1_Silent_p.G184G	NM_001556.2	NP_001547.1	O14920	IKKB_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta	184	Protein kinase.				anti-apoptosis|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane|membrane raft	ATP binding|identical protein binding|IkappaB kinase activity			breast(4)|lung(1)|ovary(2)|skin(1)	8	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264)		Arsenic trioxide(DB01169)|Auranofin(DB00995)	CATTCGTGGGGACCCTGCAGT	0.512													11	21					0	0	1	0	0	A	42163935	G	A	42163935	2	1	81	1	0	0	0	0	0	0	0	1	7655	1161	41	2		2	IKBKB	8	42163935	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	604838	42163935	104200087	6731	10347											
POLB	5423	broad.mit.edu	37	8	42196180	42196180	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:42196180G>T	ENST00000265421.4	+	1	208	c.38G>T	c.(37-39)gGg>gTg	p.G13V	POLB_ENST00000530566.1_Intron|POLB_ENST00000538005.1_5'UTR	NM_002690.2	NP_002681.1	P06746	DPOLB_HUMAN	polymerase (DNA directed), beta	13					DNA-dependent DNA replication	cytoplasm|nucleoplasm|spindle microtubule	DNA-(apurinic or apyrimidinic site) lyase activity|DNA-directed DNA polymerase activity|enzyme binding|metal ion binding|microtubule binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(5)|ovary(1)	16	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;2.58e-12)|Lung NSC(13;4.24e-11)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.1)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	BRCA - Breast invasive adenocarcinoma(8;3.18e-11)|Lung(22;0.00467)|OV - Ovarian serous cystadenocarcinoma(14;0.00523)|LUSC - Lung squamous cell carcinoma(45;0.024)		Cytarabine(DB00987)	ACTCTCAACGGGGGAATCACC	0.622								DNA polymerases (catalytic subunits)					11	93					3.07112e-06	3.5041e-06	1	1	0	T	42196180	G	T	42196180	3	4	81	1	0	0	0	0	1	0	0	0	12237	1232	43	5	40	5	POLB	8	42196180	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	32245	42196180	104167842	6732	10348											
DKK4	27121	broad.mit.edu	37	8	42234530	42234530	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:42234530G>A	ENST00000220812.2	-	1	220	c.34C>T	c.(34-36)Ctc>Ttc	p.L12F		NM_014420.2	NP_055235.1	Q9UBT3	DKK4_HUMAN	dickkopf WNT signaling pathway inhibitor 4	12					multicellular organismal development|negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	extracellular region				NS(1)|endometrium(1)|large_intestine(7)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	14	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;2.58e-12)|Lung NSC(13;4.24e-11)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.1)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;3.48e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00523)|Lung(22;0.00597)|LUSC - Lung squamous cell carcinoma(45;0.024)			GGAGAGCAGAGCCAGCTCAGC	0.657													16	22					0	0	1	0	0	A	42234530	G	A	42234530	3	1	81	1	0	0	0	0	1	0	0	0	4575	971	34	2	656	2	DKK4	8	42234530	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	38350	42234530	104129492	6733	10349											
DKK4	27121	broad.mit.edu	37	8	42234556	42234556	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:42234556G>A	ENST00000220812.2	-	1	194	c.8C>T	c.(7-9)gCg>gTg	p.A3V		NM_014420.2	NP_055235.1	Q9UBT3	DKK4_HUMAN	dickkopf WNT signaling pathway inhibitor 4	3					multicellular organismal development|negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	extracellular region				NS(1)|endometrium(1)|large_intestine(7)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	14	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;2.58e-12)|Lung NSC(13;4.24e-11)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.1)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;3.48e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00523)|Lung(22;0.00597)|LUSC - Lung squamous cell carcinoma(45;0.024)			CAGGACGGCCGCCACCATCCT	0.647													8	19					0	0	1	0	0	A	42234556	G	A	42234556	3	1	81	1	0	0	0	0	1	0	0	0	4575	1087	38	1	682	1	DKK4	8	42234556	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	26	42234556	104129466	6734	10350											
VDAC3	7419	broad.mit.edu	37	8	42260974	42260974	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:42260974C>A	ENST00000392935.3	+	8	843	c.700C>A	c.(700-702)Ctc>Atc	p.L234I	VDAC3_ENST00000022615.4_Missense_Mutation_p.L233I|VDAC3_ENST00000521158.1_Missense_Mutation_p.L234I|VDAC3_ENST00000522572.1_Intron	NM_001135694.2|NM_005662.6	NP_001129166.1|NP_005653.3	Q9Y277	VDAC3_HUMAN	voltage-dependent anion channel 3	233					adenine transport	mitochondrial outer membrane|pore complex	nucleotide binding|porin activity|protein binding|voltage-gated anion channel activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	7	all_cancers(6;3.86e-23)|all_lung(13;6.47e-12)|Lung NSC(13;1.08e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	BRCA - Breast invasive adenocarcinoma(8;3.48e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00266)|Lung(22;0.00849)|LUSC - Lung squamous cell carcinoma(45;0.024)		Dihydroxyaluminium(DB01375)	TAGAACTTCTCTCTCTGTAAG	0.398													20	34					8.34094e-07	9.62661e-07	1	1	0	A	42260974	C	A	42260974	3	1	81	1	0	0	0	0	1	0	0	0	17208	913	32	4	722	4	VDAC3	8	42260974	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	26418	42260974	104103048	6735	10351											
SLC20A2	6575	broad.mit.edu	37	8	42320605	42320605	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:42320605G>A	ENST00000342228.3	-	4	803	c.434C>T	c.(433-435)gCt>gTt	p.A145V	SLC20A2_ENST00000520262.1_Missense_Mutation_p.A145V|SLC20A2_ENST00000520179.1_Missense_Mutation_p.A145V	NM_006749.4	NP_006740.1	Q08357	S20A2_HUMAN	solute carrier family 20 (phosphate transporter), member 2	145					interspecies interaction between organisms	integral to plasma membrane|membrane fraction	inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity			breast(1)|endometrium(6)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|stomach(1)	26	all_lung(13;8.33e-12)|Lung NSC(13;1.41e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	BRCA - Breast invasive adenocarcinoma(8;5.73e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00419)|Lung(22;0.0302)|LUSC - Lung squamous cell carcinoma(45;0.0869)			AAACCAAGAAGCAACTGAATA	0.308													10	18					0	0	1	0	0	A	42320605	G	A	42320605	3	1	81	1	0	0	0	0	1	0	0	0	14494	971	34	2	1556	2	SLC20A2	8	42320605	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	59631	42320605	104043417	6736	10352											
SLC20A2	6575	broad.mit.edu	37	8	42329808	42329808	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:42329808C>T	ENST00000342228.3	-	2	470	c.101G>A	c.(100-102)gGt>gAt	p.G34D	SLC20A2_ENST00000520262.1_Missense_Mutation_p.G34D|SLC20A2_ENST00000520179.1_Missense_Mutation_p.G34D	NM_006749.4	NP_006740.1	Q08357	S20A2_HUMAN	solute carrier family 20 (phosphate transporter), member 2	34					interspecies interaction between organisms	integral to plasma membrane|membrane fraction	inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity			breast(1)|endometrium(6)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|stomach(1)	26	all_lung(13;8.33e-12)|Lung NSC(13;1.41e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	BRCA - Breast invasive adenocarcinoma(8;5.73e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00419)|Lung(22;0.0302)|LUSC - Lung squamous cell carcinoma(45;0.0869)			CACGGCTGTACCAAAGGAGTT	0.478													57	97					0	0	1	0	0	T	42329808	C	T	42329808	3	4	81	1	0	0	0	0	1	0	0	0	14494	507	18	2	1897	2	SLC20A2	8	42329808	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	9203	42329808	104034214	6737	10353											
SLC20A2	6575	broad.mit.edu	37	8	42329846	42329846	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:42329846G>T	ENST00000342228.3	-	2	432	c.63C>A	c.(61-63)gcC>gcA	p.A21A	SLC20A2_ENST00000520262.1_Silent_p.A21A|SLC20A2_ENST00000520179.1_Silent_p.A21A	NM_006749.4	NP_006740.1	Q08357	S20A2_HUMAN	solute carrier family 20 (phosphate transporter), member 2	21					interspecies interaction between organisms	integral to plasma membrane|membrane fraction	inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity			breast(1)|endometrium(6)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|stomach(1)	26	all_lung(13;8.33e-12)|Lung NSC(13;1.41e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	BRCA - Breast invasive adenocarcinoma(8;5.73e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00419)|Lung(22;0.0302)|LUSC - Lung squamous cell carcinoma(45;0.0869)			CAACAGAAAAGGCCAAGATGA	0.463													5	87					0.000602214	0.000646338	1	1	0	T	42329846	G	T	42329846	2	4	81	1	0	0	0	0	0	0	0	1	14494	987	35	4		4	SLC20A2	8	42329846	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	38	42329846	104034176	6738	10354											
CHRNB3	1142	broad.mit.edu	37	8	42552708	42552708	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:42552708C>T	ENST00000289957.2	+	1	147	c.19C>T	c.(19-21)Ctg>Ttg	p.L7L	CHRNB3_ENST00000531610.1_3'UTR	NM_000749.3	NP_000740.1	Q05901	ACHB3_HUMAN	cholinergic receptor, nicotinic, beta 3 (neuronal)	7					synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity			endometrium(4)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25	all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869)			AGATTTTATGCTGGTTCTCAT	0.398													38	52					0	0	1	0	0	T	42552708	C	T	42552708	2	4	81	1	0	0	0	0	0	0	0	1	3414	796	28	2		2	CHRNB3	8	42552708	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	222862	42552708	103811314	6739	10355											
THAP1	55145	broad.mit.edu	37	8	42694369	42694369	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:42694369G>T	ENST00000254250.3	-	2	457	c.227C>A	c.(226-228)gCt>gAt	p.A76D	THAP1_ENST00000532093.1_5'UTR|THAP1_ENST00000345117.2_Intron	NM_018105.2	NP_060575.1	Q9NVV9	THAP1_HUMAN	THAP domain containing, apoptosis associated protein 1	76					cell cycle|endothelial cell proliferation|regulation of mitotic cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	sequence-specific DNA binding|zinc ion binding			NS(1)|lung(4)|prostate(1)|skin(1)	7	all_lung(13;3.33e-12)|Lung NSC(13;9.17e-11)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00026)|Acute lymphoblastic leukemia(644;0.000299)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.0377)|LUSC - Lung squamous cell carcinoma(45;0.0869)			TGTGGGCACAGCATTCTCTTT	0.353													46	80					6.61955e-31	8.83192e-31	1	1	0	T	42694369	G	T	42694369	3	4	81	1	0	0	0	0	1	0	0	0	15901	971	34	4	422	4	THAP1	8	42694369	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	141661	42694369	103669653	6740	10356											
HOOK3	84376	broad.mit.edu	37	8	42841911	42841911	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:42841911G>A	ENST00000307602.4	+	15	1705	c.1505G>A	c.(1504-1506)cGc>cAc	p.R502H		NM_032410.3	NP_115786.1	Q86VS8	HOOK3_HUMAN	hook microtubule-tethering protein 3	502					cytoplasmic microtubule organization|early endosome to late endosome transport|endosome organization|endosome to lysosome transport|Golgi localization|interkinetic nuclear migration|lysosome organization|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome|protein transport	cis-Golgi network|FHF complex|microtubule|pericentriolar material	identical protein binding|microtubule binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	31	Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.000105)|Lung NSC(58;0.000419)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.048)|LUSC - Lung squamous cell carcinoma(45;0.114)			GCAAATCTACGCAAGAATGAA	0.393			T	RET	papillary thyroid								6	117					0	0	1	0	0	A	42841911	G	A	42841911	3	1	81	1	0	0	0	0	1	0	0	0	7325	1087	38	1	1563	1	HOOK3	8	42841911	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	147542	42841911	103522111	6741	10357											
HGSNAT	138050	broad.mit.edu	37	8	43002131	43002131	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:43002131G>T	ENST00000458501.2	+	2	243	c.243G>T	c.(241-243)caG>caT	p.Q81H	HGSNAT_ENST00000379644.4_Missense_Mutation_p.Q53H			Q68CP4	HGNAT_HUMAN	heparan-alpha-glucosaminide N-acetyltransferase	81					lysosomal transport|protein oligomerization	integral to membrane|lysosomal membrane	heparan-alpha-glucosaminide N-acetyltransferase activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(6)	13	Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184)	all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17)			AGATGGATCAGGCTTTGCTAC	0.378													13	20					9.05144e-12	1.12483e-11	1	1	0	T	43002131	G	T	43002131	3	4	81	1	0	0	0	0	1	0	0	0	7129	991	35	4	165	4	HGSNAT	8	43002131	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	160220	43002131	103361891	6742	10358											
HGSNAT	138050	broad.mit.edu	37	8	43014188	43014188	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:43014188G>A	ENST00000458501.2	+	4	577		c.e4+1		HGSNAT_ENST00000379644.4_Splice_Site			Q68CP4	HGNAT_HUMAN	heparan-alpha-glucosaminide N-acetyltransferase						lysosomal transport|protein oligomerization	integral to membrane|lysosomal membrane	heparan-alpha-glucosaminide N-acetyltransferase activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(6)	13	Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184)	all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17)			AGTAACCTTCGTACGTATATG	0.393													8	23					0	0	1	0	0	A	43014188	G	A	43014188	5	1	81	1	0	0	0	0	0	0	1	0	7129	1159	40	1	508	1	HGSNAT	8	43014188	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	12057	43014188	103349834	6743	10359											
POTEA	340441	broad.mit.edu	37	8	43152139	43152140	+	RNA	INS	-	-	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:43152139_43152140insA	ENST00000522175.2	+	0	301							Q6S8J7	POTEA_HUMAN	POTE ankyrin domain family, member A											breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						TACAATTTCCTAAAAAAGTCTC	0.381													27	53	---	---	---	---						A	43152140	-	A	43152139	6	5	81	0	1	1	1	0	0	0	0	0	12309	1537	53	0		0	POTEA	8	43152139	RNA	INS	-	TCGA-DU-6392-01A-11D-1705-08	137951	43152139	103211883	6744	10360											
PRKDC	5591	broad.mit.edu	37	8	48715981	48715981	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:48715981C>A	ENST00000314191.2	-	71	9861	c.9805G>T	c.(9805-9807)Gac>Tac	p.D3269Y	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Missense_Mutation_p.D3269Y	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	3270	FAT.				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				AGCCAATCGTCTCTGGTTTTT	0.498								Non-homologous end-joining					9	89					2.17888e-05	2.43576e-05	1	1	0	A	48715981	C	A	48715981	3	1	81	1	0	0	0	0	1	0	0	0	12573	913	32	4	2646	4	PRKDC	8	48715981	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	5563842	48715981	97648041	6745	10361											
PRKDC	5591	broad.mit.edu	37	8	48715996	48715996	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:48715996C>A	ENST00000314191.2	-	71	9846	c.9790G>T	c.(9790-9792)Gag>Tag	p.E3264*	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Nonsense_Mutation_p.E3264*	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	3265	FAT.				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				GTTTTTGACTCTTTATGCAGC	0.493								Non-homologous end-joining					15	92					1.15088e-07	1.34837e-07	1	1	0	A	48715996	C	A	48715996	4	1	81	1	0	0	0	0	0	1	0	0	12573	922	32	4	2661	4	PRKDC	8	48715996	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	15	48715996	97648026	6746	10362											
PRKDC	5591	broad.mit.edu	37	8	48731985	48731985	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:48731985G>T	ENST00000314191.2	-	68	9476	c.9420C>A	c.(9418-9420)ttC>ttA	p.F3140L	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Missense_Mutation_p.F3140L	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	3141	FAT.|KIP-binding.				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				TAAAGCTGATGAACTCCTGAA	0.299								Non-homologous end-joining					6	75					0.00307968	0.00324365	1	1	0	T	48731985	G	T	48731985	3	4	81	1	0	0	0	0	1	0	0	0	12573	1281	45	5	3043	5	PRKDC	8	48731985	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	15989	48731985	97632037	6747	10363											
PRKDC	5591	broad.mit.edu	37	8	48749833	48749833	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:48749833G>A	ENST00000314191.2	-	58	7754	c.7698C>T	c.(7696-7698)agC>agT	p.S2566S	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Silent_p.S2566S	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	2567	KIP-binding.				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				CTGGGCTCATGCTGGTCATTT	0.403								Non-homologous end-joining					11	18					0	0	1	0	0	A	48749833	G	A	48749833	2	1	81	1	0	0	0	0	0	0	0	1	12573	1310	46	2		2	PRKDC	8	48749833	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	17848	48749833	97614189	6748	10364											
PRKDC	5591	broad.mit.edu	37	8	48761853	48761853	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:48761853G>A	ENST00000314191.2	-	55	7195	c.7139C>T	c.(7138-7140)gCt>gTt	p.A2380V	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Missense_Mutation_p.A2380V	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	2381					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				AAAGAACACAGCATTCATGAA	0.542								Non-homologous end-joining					40	96					0	0	1	0	0	A	48761853	G	A	48761853	3	1	81	1	0	0	0	0	1	0	0	0	12573	971	34	2	5376	2	PRKDC	8	48761853	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	12020	48761853	97602169	6749	10365											
PRKDC	5591	broad.mit.edu	37	8	48766717	48766717	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:48766717T>C	ENST00000314191.2	-	52	6873	c.6817A>G	c.(6817-6819)Att>Gtt	p.I2273V	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Missense_Mutation_p.I2273V	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	2274					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				AGCAATTGAATCCCTACTGAG	0.403								Non-homologous end-joining					11	19					0	0	1	0	0	C	48766717	T	C	48766717	3	2	81	1	0	0	0	0	1	0	0	0	12573	1435	50	3	5710	3	PRKDC	8	48766717	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	4864	48766717	97597305	6750	10366											
PRKDC	5591	broad.mit.edu	37	8	48771461	48771461	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:48771461C>T	ENST00000314191.2	-	48	6347	c.6291G>A	c.(6289-6291)acG>acA	p.T2097T	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Silent_p.T2097T	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	2098					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				TGACCAGGGCCGTCAGGGGCG	0.567								Non-homologous end-joining					35	35					0	0	1	0	0	T	48771461	C	T	48771461	2	4	81	1	0	0	0	0	0	0	0	1	12573	639	23	1		1	PRKDC	8	48771461	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	4744	48771461	97592561	6751	10367											
PRKDC	5591	broad.mit.edu	37	8	48826496	48826496	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:48826496C>A	ENST00000314191.2	-	24	2802	c.2746G>T	c.(2746-2748)Gaa>Taa	p.E916*	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Nonsense_Mutation_p.E916*	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	916					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding	p.V909_L917delVFLPRVTEL(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				AGCGCTAATTCTGTGACTCGA	0.423								Non-homologous end-joining					12	102					0.0135373	0.014045	1	1	0	A	48826496	C	A	48826496	4	1	81	1	0	0	0	0	0	1	0	0	12573	922	32	4	9891	4	PRKDC	8	48826496	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	55035	48826496	97537526	6752	10368											
MCM4	4173	broad.mit.edu	37	8	48883349	48883349	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:48883349C>A	ENST00000262105.2	+	11	1922	c.1713C>A	c.(1711-1713)tgC>tgA	p.C571*	MCM4_ENST00000523944.1_Nonsense_Mutation_p.C571*	NM_005914.3	NP_005905.2	P33991	MCM4_HUMAN	minichromosome maintenance complex component 4	571	MCM.				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|DNA binding|helicase activity|protein binding			biliary_tract(1)|breast(1)|endometrium(7)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	44		all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354)				ACGGCATCTGCTGTATCGATG	0.502													15	24					0.000422831	0.00045788	1	1	0	A	48883349	C	A	48883349	4	1	81	1	0	0	0	0	0	1	0	0	9439	805	28	4	1755	4	MCM4	8	48883349	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	56853	48883349	97480673	6753	10369											
MCM4	4173	broad.mit.edu	37	8	48885589	48885589	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:48885589C>T	ENST00000262105.2	+	13	2310	c.2101C>T	c.(2101-2103)Cgg>Tgg	p.R701W	MCM4_ENST00000523944.1_Missense_Mutation_p.R701W	NM_005914.3	NP_005905.2	P33991	MCM4_HUMAN	minichromosome maintenance complex component 4	701					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|DNA binding|helicase activity|protein binding			biliary_tract(1)|breast(1)|endometrium(7)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	44		all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354)				CATCATGCCGCGGCTAAGTGA	0.552													12	13					0	0	1	0	0	T	48885589	C	T	48885589	3	4	81	1	0	0	0	0	1	0	0	0	9439	759	27	1	2151	1	MCM4	8	48885589	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2240	48885589	97478433	6754	10370											
MCM4	4173	broad.mit.edu	37	8	48887319	48887319	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:48887319G>A	ENST00000262105.2	+	14	2371	c.2162G>A	c.(2161-2163)gGc>gAc	p.G721D	MCM4_ENST00000523944.1_Missense_Mutation_p.G721D	NM_005914.3	NP_005905.2	P33991	MCM4_HUMAN	minichromosome maintenance complex component 4	721					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|DNA binding|helicase activity|protein binding			biliary_tract(1)|breast(1)|endometrium(7)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	44		all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354)				AGGAAGATTGGCAGTAGCCGG	0.408													98	145					0	0	1	0	0	A	48887319	G	A	48887319	3	1	81	1	0	0	0	0	1	0	0	0	9439	1203	42	2	2216	2	MCM4	8	48887319	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1730	48887319	97476703	6755	10371											
ST18	9705	broad.mit.edu	37	8	53076618	53076618	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:53076618T>G	ENST00000276480.7	-	13	2011	c.1328A>C	c.(1327-1329)aAa>aCa	p.K443T		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)	443						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				CATTGCCAATTTTTCAGCTGC	0.418													33	58					0	0	1	0	0	G	53076618	T	G	53076618	3	3	81	1	0	0	0	0	1	0	0	0	15268	1841	64	5	1871	5	ST18	8	53076618	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	4189299	53076618	93287404	6756	10372											
ST18	9705	broad.mit.edu	37	8	53084707	53084707	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:53084707A>G	ENST00000276480.7	-	10	1397	c.714T>C	c.(712-714)acT>acC	p.T238T		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)	238						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				TGTCACCTTCAGTTTTTATTT	0.428													29	48					0	0	1	0	0	G	53084707	A	G	53084707	2	3	81	1	0	0	0	0	0	0	0	1	15268	175	7	3		3	ST18	8	53084707	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	8089	53084707	93279315	6757	10373											
ST18	9705	broad.mit.edu	37	8	53084774	53084774	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:53084774G>T	ENST00000276480.7	-	10	1330	c.647C>A	c.(646-648)cCt>cAt	p.P216H		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)	216						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				TGGGACTCTAGGTGGTTTGGT	0.413													19	47					7.07596e-05	7.81712e-05	1	1	0	T	53084774	G	T	53084774	3	4	81	1	0	0	0	0	1	0	0	0	15268	1000	35	4	2564	4	ST18	8	53084774	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	67	53084774	93279248	6758	10374											
RB1CC1	9821	broad.mit.edu	37	8	53570292	53570292	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:53570292C>T	ENST00000025008.5	-	15	2620	c.2097G>A	c.(2095-2097)acG>acA	p.T699T	RB1CC1_ENST00000435644.2_Silent_p.T699T|RB1CC1_ENST00000539297.1_Silent_p.T699T|RB1CC1_ENST00000521611.1_Intron	NM_014781.4	NP_055596.3	Q8TDY2	RBCC1_HUMAN	RB1-inducible coiled-coil 1	699					autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	protein binding			NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				CAAAATCAAACGTATGTGCAT	0.398													6	97					0	0	1	0	0	T	53570292	C	T	53570292	2	4	81	1	0	0	0	0	0	0	0	1	13151	523	19	1		1	RB1CC1	8	53570292	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	485518	53570292	92793730	6759	10375											
RB1CC1	9821	broad.mit.edu	37	8	53586799	53586799	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:53586799G>T	ENST00000025008.5	-	7	1131	c.608C>A	c.(607-609)cCa>cAa	p.P203Q	RB1CC1_ENST00000435644.2_Missense_Mutation_p.P203Q|RB1CC1_ENST00000539297.1_Missense_Mutation_p.P203Q|RB1CC1_ENST00000521611.1_Intron	NM_014781.4	NP_055596.3	Q8TDY2	RBCC1_HUMAN	RB1-inducible coiled-coil 1	203					autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	protein binding			NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				CTCCAACAGTGGAATCTTGGC	0.373													14	140					2.32078e-09	2.80257e-09	1	1	0	T	53586799	G	T	53586799	3	4	81	1	0	0	0	0	1	0	0	0	13151	1348	47	5	4248	5	RB1CC1	8	53586799	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	16507	53586799	92777223	6760	10376											
NPBWR1	2831	broad.mit.edu	37	8	53852687	53852687	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:53852687C>A	ENST00000331251.3	+	1	1697	c.220C>A	c.(220-222)Ctg>Atg	p.L74M		NM_005285.3	NP_005276.2	P48145	NPBW1_HUMAN	neuropeptides B/W receptor 1	74					synaptic transmission	plasma membrane	opioid receptor activity|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)	17		Lung NSC(129;0.0222)|all_epithelial(80;0.0301)|all_lung(136;0.0431)				CGTCACCAACCTGTTCATCCT	0.647													10	12					0.00621372	0.00649472	1	1	0	A	53852687	C	A	53852687	3	1	81	1	0	0	0	0	1	0	0	0	10615	680	24	4	222	4	NPBWR1	8	53852687	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	265888	53852687	92511335	6761	10377											
NPBWR1	2831	broad.mit.edu	37	8	53853034	53853034	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:53853034G>A	ENST00000331251.3	+	1	2044	c.567G>A	c.(565-567)gtG>gtA	p.V189V		NM_005285.3	NP_005276.2	P48145	NPBW1_HUMAN	neuropeptides B/W receptor 1	189					synaptic transmission	plasma membrane	opioid receptor activity|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)	17		Lung NSC(129;0.0222)|all_epithelial(80;0.0301)|all_lung(136;0.0431)				GCCAGTGCGTGCTAGTCTTTC	0.687													3	3					0	0	1	0	0	A	53853034	G	A	53853034	2	1	81	1	0	0	0	0	0	0	0	1	10615	1306	46	2		2	NPBWR1	8	53853034	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	347	53853034	92510988	6762	10378											
LYPLA1	10434	broad.mit.edu	37	8	54963656	54963656	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:54963656C>T	ENST00000316963.3	-	8	748	c.555G>A	c.(553-555)acG>acA	p.T185T	LYPLA1_ENST00000522007.1_3'UTR|LYPLA1_ENST00000343231.6_Silent_p.T169T	NM_001279360.1|NM_006330.2	NP_001266289.1|NP_006321.1	O75608	LYPA1_HUMAN	lysophospholipase I	185					fatty acid metabolic process|nitric oxide metabolic process|regulation of nitric-oxide synthase activity	cytosol	lysophospholipase activity|palmitoyl-(protein) hydrolase activity			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)	6		Lung NSC(129;0.109)|all_epithelial(80;0.11)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;8.48e-07)|Epithelial(17;9.29e-05)|all cancers(17;0.000689)			GTTTTTCCACCGTAAGAGAAC	0.443													34	55					0	0	1	0	0	T	54963656	C	T	54963656	2	4	81	1	0	0	0	0	0	0	0	1	9162	639	23	1		1	LYPLA1	8	54963656	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1110622	54963656	91400366	6763	10379											
MRPL15	29088	broad.mit.edu	37	8	55055240	55055240	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:55055240G>A	ENST00000260102.4	+	4	521	c.447G>A	c.(445-447)acG>acA	p.T149T		NM_014175.3	NP_054894.1	Q9P015	RM15_HUMAN	mitochondrial ribosomal protein L15	149					translation	large ribosomal subunit|mitochondrion	structural constituent of ribosome			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)|skin(3)	10		Lung NSC(129;0.109)|all_epithelial(80;0.134)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;4.3e-07)|Epithelial(17;5.79e-05)|all cancers(17;0.000458)			ACACCTTTACGGCAAAAGTTA	0.368													23	30					0	0	1	0	0	A	55055240	G	A	55055240	2	1	81	1	0	0	0	0	0	0	0	1	9829	1103	39	1		1	MRPL15	8	55055240	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	91584	55055240	91308782	6764	10380											
RP1	6101	broad.mit.edu	37	8	55539476	55539476	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:55539476C>A	ENST00000220676.1	+	4	3182	c.3034C>A	c.(3034-3036)Ctg>Atg	p.L1012M		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1012					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			GGTTGGATCTCTGAATGATGC	0.388													84	183					2.99311e-26	3.96746e-26	1	1	0	A	55539476	C	A	55539476	3	1	81	1	0	0	0	0	1	0	0	0	13584	912	32	4	3044	4	RP1	8	55539476	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	484236	55539476	90824546	6765	10381											
RP1	6101	broad.mit.edu	37	8	55541245	55541245	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:55541245G>T	ENST00000220676.1	+	4	4951	c.4803G>T	c.(4801-4803)gaG>gaT	p.E1601D		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1601					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			GTGACAGTGAGCAGCCATATA	0.393													9	68					4.68919e-08	5.54405e-08	1	1	0	T	55541245	G	T	55541245	3	4	81	1	0	0	0	0	1	0	0	0	13584	962	34	4	4813	4	RP1	8	55541245	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1769	55541245	90822777	6766	10382											
RP1	6101	broad.mit.edu	37	8	55541382	55541382	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:55541382T>G	ENST00000220676.1	+	4	5088	c.4940T>G	c.(4939-4941)tTt>tGt	p.F1647C		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1647					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			CCATCTTTTTTTCCTGGGTCT	0.373													5	131					0	0	1	0	0	G	55541382	T	G	55541382	3	3	81	1	0	0	0	0	1	0	0	0	13584	1841	64	5	4950	5	RP1	8	55541382	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	137	55541382	90822640	6767	10383											
RP1	6101	broad.mit.edu	37	8	55542081	55542081	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:55542081C>A	ENST00000220676.1	+	4	5787	c.5639C>A	c.(5638-5640)cCt>cAt	p.P1880H		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1880					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	p.P1880L(1)		NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			AAAGTCTACCCTGTCTCTGAT	0.398													5	65					0.184627	0.18622	1	1	0	A	55542081	C	A	55542081	3	1	81	1	0	0	0	0	1	0	0	0	13584	681	24	4	5649	4	RP1	8	55542081	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	699	55542081	90821941	6768	10384											
IMPAD1	54928	broad.mit.edu	37	8	57876370	57876370	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:57876370T>G	ENST00000262644.4	-	5	1320	c.1062A>C	c.(1060-1062)gaA>gaC	p.E354D		NM_017813.4	NP_060283.3	Q9NX62	IMPA3_HUMAN	inositol monophosphatase domain containing 1	354						Golgi apparatus|integral to membrane	inositol-1(or 4)-monophosphatase activity|metal ion binding			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7		all_cancers(86;0.175)|all_lung(136;0.0321)|Lung NSC(129;0.0417)|all_epithelial(80;0.0448)				GTCCTGTCTTTTCTAGATCTG	0.458													32	47					0	0	1	0	0	G	57876370	T	G	57876370	3	3	81	1	0	0	0	0	1	0	0	0	7769	1838	64	5	21	5	IMPAD1	8	57876370	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	2334289	57876370	88487652	6769	10385											
FAM110B	90362	broad.mit.edu	37	8	59059400	59059400	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:59059400G>A	ENST00000361488.3	+	5	1491	c.611G>A	c.(610-612)cGc>cAc	p.R204H	FAM110B_ENST00000520369.1_Intron	NM_147189.2	NP_671722.1	Q8TC76	F110B_HUMAN	family with sequence similarity 110, member B	204						microtubule organizing center|mitochondrion|nucleus		p.R204H(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2)	26		all_epithelial(80;0.025)|all_lung(136;0.0274)|Lung NSC(129;0.0355)				TCGGACATCCGCAAGGTGACC	0.657													22	31					0	0	1	0	0	A	59059400	G	A	59059400	3	1	81	1	0	0	0	0	1	0	0	0	5428	1087	38	1	613	1	FAM110B	8	59059400	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1183030	59059400	87304622	6770	10386											
CYP7A1	1581	broad.mit.edu	37	8	59409377	59409377	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:59409377G>T	ENST00000301645.3	-	3	831	c.694C>A	c.(694-696)Cac>Aac	p.H232N		NM_000780.3	NP_000771.2	P22680	CP7A1_HUMAN	cytochrome P450, family 7, subfamily A, polypeptide 1	232					bile acid biosynthetic process|cellular lipid metabolic process|cellular response to cholesterol|cellular response to glucose stimulus|cholesterol catabolic process|cholesterol homeostasis|regulation of bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	cholesterol 7-alpha-monooxygenase activity|electron carrier activity|heme binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(1)|urinary_tract(1)	34		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)				CGGGCATTGTGCGCAGTCCTG	0.488									Neonatal Giant Cell Hepatitis				10	118					0.00621372	0.00649472	1	1	0	T	59409377	G	T	59409377	3	4	81	1	0	0	0	0	1	0	0	0	4219	1319	46	5	836	5	CYP7A1	8	59409377	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	349977	59409377	86954645	6771	10387											
NSMAF	8439	broad.mit.edu	37	8	59498525	59498525	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:59498525G>A	ENST00000038176.3	-	29	2693	c.2481C>T	c.(2479-2481)ggC>ggT	p.G827G	NSMAF_ENST00000427130.2_Silent_p.G858G	NM_003580.3	NP_003571.2	Q92636	FAN_HUMAN	neutral sphingomyelinase (N-SMase) activation associated factor	827					ceramide metabolic process	cytoplasm|soluble fraction	protein binding|receptor signaling protein activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	38		all_lung(136;0.174)|Lung NSC(129;0.2)				cattaagacagccatctgttc	0.463													33	56					0	0	1	0	0	A	59498525	G	A	59498525	2	1	81	1	0	0	0	0	0	0	0	1	10722	958	34	2		2	NSMAF	8	59498525	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	89148	59498525	86865497	6772	10388	45	2									
NSMAF	8439	broad.mit.edu	37	8	59498535	59498535	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:59498535C>A	ENST00000038176.3	-	29	2683	c.2471G>T	c.(2470-2472)gGa>gTa	p.G824V	NSMAF_ENST00000427130.2_Missense_Mutation_p.G855V	NM_003580.3	NP_003571.2	Q92636	FAN_HUMAN	neutral sphingomyelinase (N-SMase) activation associated factor	824					ceramide metabolic process	cytoplasm|soluble fraction	protein binding|receptor signaling protein activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	38		all_lung(136;0.174)|Lung NSC(129;0.2)				gccatctgttcctgtgctgag	0.443													7	83					0.0293803	0.0300537	1	1	0	A	59498535	C	A	59498535	3	1	81	1	0	0	0	0	1	0	0	0	10722	855	30	5	294	5	NSMAF	8	59498535	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	10	59498535	86865487	6773	10389	45	2									
TOX	9760	broad.mit.edu	37	8	59851961	59851961	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:59851961C>T	ENST00000361421.1	-	3	531	c.311G>A	c.(310-312)gGc>gAc	p.G104D		NM_014729.2	NP_055544.1	O94900	TOX_HUMAN	thymocyte selection-associated high mobility group box	104						nucleus	DNA binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(13)|prostate(1)|skin(2)|stomach(1)	33		all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607)				TGGTAGCAGGCCATTATGGTT	0.488													15	40					0	0	1	0	0	T	59851961	C	T	59851961	3	4	81	1	0	0	0	0	1	0	0	0	16438	739	26	2	1297	2	TOX	8	59851961	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	353426	59851961	86512061	6774	10390											
RAB2A	5862	broad.mit.edu	37	8	61533300	61533300	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:61533300G>A	ENST00000262646.7	+	8	962	c.611G>A	c.(610-612)gGa>gAa	p.G204E	RAB2A_ENST00000529579.1_Missense_Mutation_p.D167N|RAB2A_ENST00000531289.1_Missense_Mutation_p.G180E|RAB2A_ENST00000530071.1_3'UTR	NM_002865.2	NP_002856.1	P61019	RAB2A_HUMAN	RAB2A, member RAS oncogene family	204					ER to Golgi vesicle-mediated transport|protein transport|small GTPase mediated signal transduction	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|melanosome	GDP binding|GTP binding|GTPase activity			endometrium(1)|large_intestine(1)|lung(4)	6			BRCA - Breast invasive adenocarcinoma(89;0.0805)			AATCAGGGAGGACAGCAGGCT	0.493													14	31					0	0	1	0	0	A	61533300	G	A	61533300	3	1	81	1	0	0	0	0	1	0	0	0	12969	1174	41	2	641	2	RAB2A	8	61533300	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1681339	61533300	84830722	6775	10391											
CHD7	55636	broad.mit.edu	37	8	61654159	61654159	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:61654159T>C	ENST00000423902.2	+	2	647	c.168T>C	c.(166-168)caT>caC	p.H56H	CHD7_ENST00000525508.1_Silent_p.H56H|CHD7_ENST00000524602.1_Silent_p.H56H	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	56					central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			CCCTTCATCATCCTTCAACTA	0.413													4	17					0	0	1	0	0	C	61654159	T	C	61654159	2	2	81	1	0	0	0	0	0	0	0	1	3352	1432	50	3		3	CHD7	8	61654159	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	120859	61654159	84709863	6776	10392											
CHD7	55636	broad.mit.edu	37	8	61750301	61750301	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:61750301T>C	ENST00000423902.2	+	18	4739	c.4260T>C	c.(4258-4260)taT>taC	p.Y1420Y	CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	1420	Helicase C-terminal.				central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			GAAATTCCTATGAAAGGGAAA	0.393													6	7					0	0	1	0	0	C	61750301	T	C	61750301	2	2	81	1	0	0	0	0	0	0	0	1	3352	1471	51	3		3	CHD7	8	61750301	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	96142	61750301	84613721	6777	10393											
ASPH	444	broad.mit.edu	37	8	62475386	62475386	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:62475386T>C	ENST00000541428.1	-	18	1427	c.1267A>G	c.(1267-1269)Aat>Gat	p.N423D	ASPH_ENST00000379454.4_Missense_Mutation_p.N452D	NM_001164750.1	NP_001158222.1	Q12797	ASPH_HUMAN	aspartate beta-hydroxylase	452					muscle contraction	integral to endoplasmic reticulum membrane	calcium ion binding|electron carrier activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity|structural constituent of muscle			breast(1)|cervix(1)|endometrium(5)|large_intestine(5)|lung(16)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	Lung SC(2;0.153)	Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101)			L-Aspartic Acid(DB00128)|Succinic acid(DB00139)	GAAGTATCATTGGGAAATAGT	0.358													24	57					0	0	1	0	0	C	62475386	T	C	62475386	3	2	81	1	0	0	0	0	1	0	0	0	1052	1812	63	3	954	3	ASPH	8	62475386	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	725085	62475386	83888636	6778	10394											
ASPH	444	broad.mit.edu	37	8	62563619	62563619	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:62563619G>A	ENST00000541428.1	-	5	553	c.393C>T	c.(391-393)caC>caT	p.H131H	ASPH_ENST00000517847.2_Silent_p.H146H|ASPH_ENST00000518068.1_Silent_p.H160H|ASPH_ENST00000379454.4_Silent_p.H160H|ASPH_ENST00000522835.1_Silent_p.H146H|ASPH_ENST00000517903.1_Silent_p.H146H|ASPH_ENST00000356457.5_Silent_p.H160H|ASPH_ENST00000445642.3_Silent_p.H146H	NM_001164750.1	NP_001158222.1	Q12797	ASPH_HUMAN	aspartate beta-hydroxylase	160	Glu-rich.				muscle contraction	integral to endoplasmic reticulum membrane	calcium ion binding|electron carrier activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity|structural constituent of muscle			breast(1)|cervix(1)|endometrium(5)|large_intestine(5)|lung(16)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	Lung SC(2;0.153)	Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101)			L-Aspartic Acid(DB00128)|Succinic acid(DB00139)	CATGTTCTGCGTGTACCATTT	0.313													30	56					0	0	1	0	0	A	62563619	G	A	62563619	2	1	81	1	0	0	0	0	0	0	0	1	1052	1136	40	1		1	ASPH	8	62563619	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	88233	62563619	83800403	6779	10395											
GGH	8836	broad.mit.edu	37	8	63948219	63948219	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:63948219C>T	ENST00000260118.6	-	2	622	c.220G>A	c.(220-222)Gta>Ata	p.V74I		NM_003878.2	NP_003869.1	Q92820	GGH_HUMAN	gamma-glutamyl hydrolase (conjugase, folylpolygammaglutamyl hydrolase)	74	Gamma-glutamyl hydrolase.				glutamine metabolic process	extracellular space|lysosome|melanosome	gamma-glutamyl-peptidase activity			breast(1)|kidney(1)|large_intestine(1)|liver(1)|lung(6)|stomach(1)	11	Breast(64;0.0716)	all_cancers(86;0.189)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.131)			Folic Acid(DB00158)|L-Glutamic Acid(DB00142)	TCATACCTTACTGGTACAACT	0.393													13	54					0	0	1	0	0	T	63948219	C	T	63948219	3	4	81	1	0	0	0	0	1	0	0	0	6399	565	20	2	768	2	GGH	8	63948219	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1384600	63948219	82415803	6780	10396											
CYP7B1	9420	broad.mit.edu	37	8	65528285	65528285	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:65528285C>A	ENST00000310193.3	-	3	986	c.813G>T	c.(811-813)ctG>ctT	p.L271L	CYP7B1_ENST00000523954.1_5'UTR	NM_004820.3	NP_004811.1	O75881	CP7B1_HUMAN	cytochrome P450, family 7, subfamily B, polypeptide 1	271					bile acid biosynthetic process|cell death|cholesterol metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	25-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215)				AATATTTCTCCAGGACATCTT	0.353													15	196					1.02788e-11	1.2764e-11	1	1	0	A	65528285	C	A	65528285	2	1	81	1	0	0	0	0	0	0	0	1	4220	581	21	5		5	CYP7B1	8	65528285	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1580066	65528285	80835737	6781	10397											
MTFR1	9650	broad.mit.edu	37	8	66605934	66605934	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:66605934C>T	ENST00000262146.4	+	4	347	c.221C>T	c.(220-222)gCg>gTg	p.A74V	MTFR1_ENST00000517944.1_3'UTR|MTFR1_ENST00000458689.2_Missense_Mutation_p.A41V	NM_014637.3	NP_055452.3	Q15390	MTFR1_HUMAN	mitochondrial fission regulator 1	74						mitochondrion|plasma membrane				cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(1)|pancreas(1)|urinary_tract(1)	11			Epithelial(68;0.0526)|BRCA - Breast invasive adenocarcinoma(89;0.156)|all cancers(69;0.171)|OV - Ovarian serous cystadenocarcinoma(28;0.194)			GATGCAGTGGCGTCTTTTGCT	0.448													6	20					0	0	1	0	0	T	66605934	C	T	66605934	3	4	81	1	0	0	0	0	1	0	0	0	9973	768	27	1	231	1	MTFR1	8	66605934	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1077649	66605934	79758088	6782	10398											
PDE7A	5150	broad.mit.edu	37	8	66637059	66637059	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:66637059C>A	ENST00000401827.3	-	10	1461	c.1018G>T	c.(1018-1020)Ggt>Tgt	p.G340C	PDE7A_ENST00000379419.4_Missense_Mutation_p.G314C|PDE7A_ENST00000396642.3_Missense_Mutation_p.G340C	NM_001242318.2	NP_001229247.1	Q13946	PDE7A_HUMAN	phosphodiesterase 7A	340	Catalytic (By similarity).					cell fraction|cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			large_intestine(5)|lung(3)|stomach(1)|urinary_tract(1)	10			Epithelial(68;0.0509)|BRCA - Breast invasive adenocarcinoma(89;0.111)|all cancers(69;0.168)|OV - Ovarian serous cystadenocarcinoma(28;0.238)		Dyphylline(DB00651)|Ketotifen(DB00920)	CATAAATCACCTCTATCCAAA	0.413													7	94					1	1	1	1	0	A	66637059	C	A	66637059	3	1	81	1	0	0	0	0	1	0	0	0	11698	681	24	4	478	4	PDE7A	8	66637059	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	31125	66637059	79726963	6783	10399											
ADHFE1	137872	broad.mit.edu	37	8	67355048	67355048	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:67355048C>A	ENST00000396623.3	+	3	144	c.113C>A	c.(112-114)cCt>cAt	p.P38H	ADHFE1_ENST00000379385.4_Missense_Mutation_p.P38H|ADHFE1_ENST00000415254.1_5'UTR|ADHFE1_ENST00000496501.1_Intron	NM_144650.2	NP_653251.2	Q8IWW8	HOT_HUMAN	alcohol dehydrogenase, iron containing, 1	38					2-oxoglutarate metabolic process|molecular hydrogen transport	mitochondrial matrix	hydroxyacid-oxoacid transhydrogenase activity|metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	29		Lung NSC(129;0.197)	Epithelial(68;0.0321)|all cancers(69;0.0751)|BRCA - Breast invasive adenocarcinoma(89;0.0855)|OV - Ovarian serous cystadenocarcinoma(28;0.226)			GGACTTTCACCTTCTGGGAAA	0.303													19	48					1.22574e-08	1.46304e-08	1	1	0	A	67355048	C	A	67355048	3	1	81	1	0	0	0	0	1	0	0	0	313	681	24	4	123	4	ADHFE1	8	67355048	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	717989	67355048	79008974	6784	10400											
ADHFE1	137872	broad.mit.edu	37	8	67369316	67369316	+	Silent	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:67369316T>G	ENST00000396623.3	+	12	1108	c.1077T>G	c.(1075-1077)ctT>ctG	p.L359L	ADHFE1_ENST00000415254.1_Silent_p.L311L|ADHFE1_ENST00000496501.1_3'UTR	NM_144650.2	NP_653251.2	Q8IWW8	HOT_HUMAN	alcohol dehydrogenase, iron containing, 1	359					2-oxoglutarate metabolic process|molecular hydrogen transport	mitochondrial matrix	hydroxyacid-oxoacid transhydrogenase activity|metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	29		Lung NSC(129;0.197)	Epithelial(68;0.0321)|all cancers(69;0.0751)|BRCA - Breast invasive adenocarcinoma(89;0.0855)|OV - Ovarian serous cystadenocarcinoma(28;0.226)			CCCATGGCCTTTCTGTGGTGC	0.507													16	149					0	0	1	0	0	G	67369316	T	G	67369316	2	3	81	1	0	0	0	0	0	0	0	1	313	1828	64	5		5	ADHFE1	8	67369316	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	14268	67369316	78994706	6785	10401											
ADHFE1	137872	broad.mit.edu	37	8	67372645	67372645	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:67372645C>A	ENST00000396623.3	+	13	1296	c.1265C>A	c.(1264-1266)gCt>gAt	p.A422D	C8orf46_ENST00000482608.2_3'UTR|ADHFE1_ENST00000415254.1_Missense_Mutation_p.A374D|ADHFE1_ENST00000496501.1_3'UTR	NM_144650.2	NP_653251.2	Q8IWW8	HOT_HUMAN	alcohol dehydrogenase, iron containing, 1	422					2-oxoglutarate metabolic process|molecular hydrogen transport	mitochondrial matrix	hydroxyacid-oxoacid transhydrogenase activity|metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	29		Lung NSC(129;0.197)	Epithelial(68;0.0321)|all cancers(69;0.0751)|BRCA - Breast invasive adenocarcinoma(89;0.0855)|OV - Ovarian serous cystadenocarcinoma(28;0.226)			GGCCTAGCAGCTGTTGGTTAC	0.572											OREG0018808	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	72					9.31168e-06	1.05369e-05	1	1	0	A	67372645	C	A	67372645	3	1	81	1	0	0	0	0	1	0	0	0	313	797	28	4	1315	4	ADHFE1	8	67372645	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3329	67372645	78991377	6786	10402											
C8orf46	254778	broad.mit.edu	37	8	67428264	67428264	+	Nonsense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:67428264A>T	ENST00000305454.3	+	6	1018	c.577A>T	c.(577-579)Aag>Tag	p.K193*	C8orf46_ENST00000522977.1_3'UTR	NM_152765.3	NP_689978.2	Q8TAG6	CH046_HUMAN	chromosome 8 open reading frame 46	193										endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|skin(2)	6			Epithelial(68;0.0224)|BRCA - Breast invasive adenocarcinoma(89;0.0508)|all cancers(69;0.0558)|OV - Ovarian serous cystadenocarcinoma(28;0.226)			GCACAAGAAGAAGTCTGAATA	0.577													10	18					0	0	1	0	0	T	67428264	A	T	67428264	4	4	81	1	0	0	0	0	0	1	0	0	2448	247	9	5	599	5	C8orf46	8	67428264	Nonsense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	55619	67428264	78935758	6787	10403											
MYBL1	4603	broad.mit.edu	37	8	67484760	67484760	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:67484760G>A	ENST00000522677.3	-	12	2095	c.1685C>T	c.(1684-1686)gCg>gTg	p.A562V	MYBL1_ENST00000524176.2_Missense_Mutation_p.A562V|MYBL1_ENST00000517885.1_Missense_Mutation_p.A220V	NM_001080416.2|NM_001144755.1	NP_001073885.1|NP_001138227.1	P10243	MYBA_HUMAN	v-myb avian myeloblastosis viral oncogene homolog-like 1	562					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|skin(1)	25			Epithelial(68;0.00211)|all cancers(69;0.00726)|OV - Ovarian serous cystadenocarcinoma(28;0.00989)|BRCA - Breast invasive adenocarcinoma(89;0.0938)			AGCAGCAAGCGCATTCTTAAA	0.294													11	11					0	0	1	0	0	A	67484760	G	A	67484760	3	1	81	1	0	0	0	0	1	0	0	0	10057	1087	38	1	593	1	MYBL1	8	67484760	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	56496	67484760	78879262	6788	10404											
SGK3	23678	broad.mit.edu	37	8	67752295	67752295	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:67752295G>A	ENST00000396596.1	+	11	1013	c.799G>A	c.(799-801)Gct>Act	p.A267T	C8orf44-SGK3_ENST00000519289.1_Missense_Mutation_p.A267T|SGK3_ENST00000522398.1_Missense_Mutation_p.A267T|SGK3_ENST00000521198.2_Missense_Mutation_p.A267T|SGK3_ENST00000521435.1_3'UTR|SGK3_ENST00000345714.4_Missense_Mutation_p.A267T|SGK3_ENST00000520976.1_Missense_Mutation_p.A267T	NM_013257.4	NP_037389.4	Q96BR1	SGK3_HUMAN	serum/glucocorticoid regulated kinase family, member 3	267	Protein kinase.				cell communication|response to stress	cytoplasmic membrane-bounded vesicle|early endosome	ATP binding|phosphatidylinositol binding|protein serine/threonine kinase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	18	Breast(64;0.186)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0046)|OV - Ovarian serous cystadenocarcinoma(28;0.0112)|all cancers(69;0.0141)|BRCA - Breast invasive adenocarcinoma(89;0.206)			TAGGTTTTACGCTGCTGAAAT	0.368													31	50					0	0	1	0	0	A	67752295	G	A	67752295	3	1	81	1	0	0	0	0	1	0	0	0	14266	1087	38	1	837	1	SGK3	8	67752295	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	267535	67752295	78611727	6789	10405											
CSPP1	79848	broad.mit.edu	37	8	67998332	67998332	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:67998332G>A	ENST00000262210.5	+	4	429	c.398G>A	c.(397-399)cGt>cAt	p.R133H	CSPP1_ENST00000412460.1_5'UTR	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	centrosome and spindle pole associated protein 1	133						centrosome|microtubule|spindle				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)			GATTACAGACGTTATCTTACT	0.308													34	35					0	0	1	0	0	A	67998332	G	A	67998332	3	1	81	1	0	0	0	0	1	0	0	0	3987	1145	40	1	412	1	CSPP1	8	67998332	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	246037	67998332	78365690	6790	10406											
CSPP1	79848	broad.mit.edu	37	8	68107748	68107748	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:68107748C>T	ENST00000262210.5	+	29	3617	c.3586C>T	c.(3586-3588)Cag>Tag	p.Q1196*	CSPP1_ENST00000521168.1_3'UTR|ARFGEF1_ENST00000520381.1_Intron|CSPP1_ENST00000412460.1_Nonsense_Mutation_p.Q851*	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	centrosome and spindle pole associated protein 1	1231						centrosome|microtubule|spindle				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)			CATGGCAGAGCAGCTGAACCA	0.522													39	62					0	0	1	0	0	T	68107748	C	T	68107748	4	4	81	1	0	0	0	0	0	1	0	0	3987	711	25	2	3813	2	CSPP1	8	68107748	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	109416	68107748	78256274	6791	10407											
ARFGEF1	10565	broad.mit.edu	37	8	68116985	68116985	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:68116985G>T	ENST00000262215.3	-	35	5278	c.4889C>A	c.(4888-4890)aCt>aAt	p.T1630N	ARFGEF1_ENST00000520381.1_Missense_Mutation_p.T1084N|ARFGEF1_ENST00000518230.1_Missense_Mutation_p.T468N	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	1630					exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			GTTGTCGATAGTCTGGATGAG	0.443													6	91					0.0215528	0.0221217	1	1	0	T	68116985	G	T	68116985	3	4	81	1	0	0	0	0	1	0	0	0	849	1029	36	4	680	4	ARFGEF1	8	68116985	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	9237	68116985	78247037	6792	10408											
ARFGEF1	10565	broad.mit.edu	37	8	68123763	68123763	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:68123763C>G	ENST00000262215.3	-	34	5163	c.4774G>C	c.(4774-4776)Gcg>Ccg	p.A1592P	ARFGEF1_ENST00000520381.1_Missense_Mutation_p.A1046P|ARFGEF1_ENST00000518230.1_Missense_Mutation_p.A430P	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	1592					exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			ACAGCAGACGCAGAAACCAGT	0.323													4	38					0	0	1	0	0	G	68123763	C	G	68123763	3	3	81	1	0	0	0	0	1	0	0	0	849	710	25	5	799	5	ARFGEF1	8	68123763	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	6778	68123763	78240259	6793	10409											
CPA6	57094	broad.mit.edu	37	8	68334878	68334878	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:68334878G>T	ENST00000297770.4	-	11	1390	c.1175C>A	c.(1174-1176)cCt>cAt	p.P392H	CPA6_ENST00000297769.4_Missense_Mutation_p.P148H	NM_020361.4	NP_065094.3	Q8N4T0	CBPA6_HUMAN	carboxypeptidase A6	392					proteolysis	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding			NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(5)	26			Epithelial(68;0.04)|OV - Ovarian serous cystadenocarcinoma(28;0.0593)|all cancers(69;0.136)			AAATGCATAAGGTATTCCATT	0.388													8	66					1.12685e-05	1.27052e-05	1	1	0	T	68334878	G	T	68334878	3	4	81	1	0	0	0	0	1	0	0	0	3817	1000	35	4	142	4	CPA6	8	68334878	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	211115	68334878	78029144	6794	10410											
CPA6	57094	broad.mit.edu	37	8	68430256	68430256	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:68430256G>A	ENST00000297770.4	-	3	434	c.219C>T	c.(217-219)atC>atT	p.I73I	CPA6_ENST00000518549.1_Silent_p.I73I|CPA6_ENST00000297769.4_5'UTR	NM_020361.4	NP_065094.3	Q8N4T0	CBPA6_HUMAN	carboxypeptidase A6	73					proteolysis	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding			NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(5)	26			Epithelial(68;0.04)|OV - Ovarian serous cystadenocarcinoma(28;0.0593)|all cancers(69;0.136)			ATACATAGGAGATACTGCTGG	0.478													7	65					0	0	1	0	0	A	68430256	G	A	68430256	2	1	81	1	0	0	0	0	0	0	0	1	3817	932	33	2		2	CPA6	8	68430256	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	95378	68430256	77933766	6795	10411											
PREX2	80243	broad.mit.edu	37	8	68939479	68939479	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:68939479G>A	ENST00000288368.4	+	5	741	c.464G>A	c.(463-465)cGg>cAg	p.R155Q	PREX2_ENST00000529398.1_3'UTR	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	155	DH.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity	p.R155Q(2)		NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						CTTGGAGGACGGAAGAACACA	0.358													29	52					0	0	1	0	0	A	68939479	G	A	68939479	3	1	81	1	0	0	0	0	1	0	0	0	12529	1116	39	1	482	1	PREX2	8	68939479	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	509223	68939479	77424543	6796	10412											
PREX2	80243	broad.mit.edu	37	8	68995502	68995503	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:68995502_68995503insT	ENST00000288368.4	+	18	2183_2184	c.1906_1907insT	c.(1906-1908)attfs	p.I636fs	PREX2_ENST00000529398.1_3'UTR|RP11-403D15.2_ENST00000526901.1_RNA	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	636	PDZ 1.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						CGGGAAAAAGATTTTTGCTATT	0.317													29	62	---	---	---	---						T	68995503	-	T	68995502	7	5	81	1	0	1	1	0	0	0	0	0	12529	333	12	0	1976	0	PREX2	8	68995502	Frame_Shift_Ins	INS	-	TCGA-DU-6392-01A-11D-1705-08	56023	68995502	77368520	6797	10413											
PREX2	80243	broad.mit.edu	37	8	69069574	69069574	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:69069574G>T	ENST00000288368.4	+	35	4526	c.4249G>T	c.(4249-4251)Gga>Tga	p.G1417*		NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	1417					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						GAGCATGGAAGGATATTATTA	0.343													4	43					0.150653	0.152522	1	1	0	T	69069574	G	T	69069574	4	4	81	1	0	0	0	0	0	1	0	0	12529	1001	35	4	4616	4	PREX2	8	69069574	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	74072	69069574	77294448	6798	10414											
C8orf34	116328	broad.mit.edu	37	8	69633665	69633665	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:69633665C>T	ENST00000337103.4	+	9	2656	c.1064C>T	c.(1063-1065)aCa>aTa	p.T355I	C8orf34_ENST00000518698.1_Missense_Mutation_p.T466I|C8orf34_ENST00000539993.1_Missense_Mutation_p.T380I|C8orf34_ENST00000325233.3_Missense_Mutation_p.T124I			Q49A92	CH034_HUMAN	chromosome 8 open reading frame 34	380					signal transduction		cAMP-dependent protein kinase regulator activity			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	36			Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)			TCTAAACTAACAGGACCTGTA	0.274													9	31					0	0	1	0	0	T	69633665	C	T	69633665	3	4	81	1	0	0	0	0	1	0	0	0	2439	478	17	2	1098	2	C8orf34	8	69633665	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	564091	69633665	76730357	6799	10415											
SULF1	23213	broad.mit.edu	37	8	70514019	70514019	+	Missense_Mutation	SNP	G	G	A	rs61747207	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:70514019G>A	ENST00000260128.4	+	10	1733	c.1016G>A	c.(1015-1017)cGt>cAt	p.R339H	SULF1_ENST00000458141.2_Missense_Mutation_p.R339H|SULF1_ENST00000419716.3_Missense_Mutation_p.R339H|SULF1_ENST00000402687.4_Missense_Mutation_p.R339H|SULF1_ENST00000521946.1_3'UTR	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	339					apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding	p.R339H(1)		breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			TTTGATATTCGTGTGCCTTTT	0.423													10	208					0	0	1	0	0	A	70514019	G	A	70514019	3	1	81	1	0	0	0	0	1	0	0	0	15426	1145	40	1	1038	1	SULF1	8	70514019	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	880354	70514019	75850003	6800	10416											
PRDM14	63978	broad.mit.edu	37	8	70964426	70964426	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:70964426G>A	ENST00000276594.2	-	8	1803	c.1602C>T	c.(1600-1602)agC>agT	p.S534S		NM_024504.3	NP_078780.1	Q9GZV8	PRD14_HUMAN	PR domain containing 14	534					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Breast(64;0.193)		Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)			GCCGGACATGGCTGTCATGGG	0.502													46	84					0	0	1	0	0	A	70964426	G	A	70964426	2	1	81	1	0	0	0	0	0	0	0	1	12507	1194	42	2		2	PRDM14	8	70964426	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	450407	70964426	75399596	6801	10417											
NCOA2	10499	broad.mit.edu	37	8	71075085	71075085	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:71075085C>T	ENST00000452400.2	-	9	1018	c.837G>A	c.(835-837)aaG>aaA	p.K279K		NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	279					cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity		PAX3/NCOA2(4)|HEY1/NCOA2(10)	NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			GAGACGTGATCTTGCCTATTA	0.403			T	"RUNXBP2, HEY1"	"AML, Chondrosarcoma"								63	114					0	0	1	0	0	T	71075085	C	T	71075085	2	4	81	1	0	0	0	0	0	0	0	1	10276	912	32	2		2	NCOA2	8	71075085	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	110659	71075085	75288937	6802	10418											
NCOA2	10499	broad.mit.edu	37	8	71128943	71128943	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:71128943C>A	ENST00000452400.2	-	3	219	c.38G>T	c.(37-39)aGg>aTg	p.R13M		NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	13					cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity		PAX3/NCOA2(4)|HEY1/NCOA2(10)	NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			TGTCTCTGCCCTGGAGGGGTC	0.433			T	"RUNXBP2, HEY1"	"AML, Chondrosarcoma"								5	116					8.12818e-05	8.94031e-05	1	1	0	A	71128943	C	A	71128943	3	1	81	1	0	0	0	0	1	0	0	0	10276	681	24	4	4440	4	NCOA2	8	71128943	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	53858	71128943	75235079	6803	10419											
TRAM1	23471	broad.mit.edu	37	8	71495549	71495549	+	Missense_Mutation	SNP	G	G	T	rs145093693	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:71495549G>T	ENST00000521425.1	-	10	1679	c.643C>A	c.(643-645)Ctg>Atg	p.L215M	TRAM1_ENST00000536748.1_Missense_Mutation_p.L270M|TRAM1_ENST00000262213.2_Missense_Mutation_p.L301M			Q15629	TRAM1_HUMAN	translocation associated membrane protein 1	301	TLC.				cotranslational protein targeting to membrane|transmembrane transport	endoplasmic reticulum membrane|integral to membrane	protein binding|receptor activity			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)	17			Epithelial(68;0.00679)|all cancers(69;0.0324)|OV - Ovarian serous cystadenocarcinoma(28;0.0509)			ATGGATGCCAGAACAGCGATT	0.343													14	20					4.36969e-10	5.3233e-10	1	1	0	T	71495549	G	T	71495549	3	4	81	1	0	0	0	0	1	0	0	0	16512	933	33	4	231	4	TRAM1	8	71495549	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	366606	71495549	74868473	6804	10420											
TRAM1	23471	broad.mit.edu	37	8	71510176	71510176	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:71510176G>A	ENST00000521425.1	-	4	1158	c.122C>T	c.(121-123)gCg>gTg	p.A41V	TRAM1_ENST00000536748.1_Missense_Mutation_p.A96V|TRAM1_ENST00000521049.1_5'UTR|TRAM1_ENST00000262213.2_Missense_Mutation_p.A127V			Q15629	TRAM1_HUMAN	translocation associated membrane protein 1	127					cotranslational protein targeting to membrane|transmembrane transport	endoplasmic reticulum membrane|integral to membrane	protein binding|receptor activity			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)	17			Epithelial(68;0.00679)|all cancers(69;0.0324)|OV - Ovarian serous cystadenocarcinoma(28;0.0509)			AAGGTAGAACGCACTAAGCTG	0.358													16	16					0	0	1	0	0	A	71510176	G	A	71510176	3	1	81	1	0	0	0	0	1	0	0	0	16512	1087	38	1	776	1	TRAM1	8	71510176	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	14627	71510176	74853846	6805	10421											
TRPA1	8989	broad.mit.edu	37	8	72964986	72964986	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:72964986G>T	ENST00000262209.4	-	14	1866	c.1659C>A	c.(1657-1659)caC>caA	p.H553Q	RP11-383H13.1_ENST00000457356.4_3'UTR|RP11-383H13.1_ENST00000537896.1_3'UTR	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	553						integral to plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	TTGCAGCAAAGTGAAGTGCAG	0.458													10	67					9.70103e-10	1.17698e-09	1	1	0	T	72964986	G	T	72964986	3	4	81	1	0	0	0	0	1	0	0	0	16638	1020	36	4	1756	4	TRPA1	8	72964986	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1454810	72964986	73399036	6806	10422											
KCNB2	9312	broad.mit.edu	37	8	73849975	73849975	+	Silent	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:73849975T>A	ENST00000523207.1	+	3	2973	c.2385T>A	c.(2383-2385)ccT>ccA	p.P795P		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	795					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)			AACTGTTCCCTTTCTCTTCAA	0.552													5	43					0	0	1	0	0	A	73849975	T	A	73849975	2	1	81	1	0	0	0	0	0	0	0	1	8057	1596	56	5		5	KCNB2	8	73849975	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	884989	73849975	72514047	6807	10423											
TERF1	7013	broad.mit.edu	37	8	73937122	73937122	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:73937122C>A	ENST00000276602.6	+	5	713	c.690C>A	c.(688-690)caC>caA	p.H230Q	TERF1_ENST00000276603.5_Missense_Mutation_p.H230Q	NM_003218.3	NP_003209.2	P54274	TERF1_HUMAN	telomeric repeat binding factor (NIMA-interacting) 1	230	TRFH dimerization.				age-dependent telomere shortening|cell division|G2/M transition of mitotic cell cycle|induction of apoptosis|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of telomere maintenance via semi-conservative replication|negative regulation of telomere maintenance via telomerase|positive regulation of microtubule polymerization|positive regulation of mitosis|positive regulation of mitotic cell cycle|protein homooligomerization|regulation of transcription, DNA-dependent|telomere maintenance via telomerase|telomere maintenance via telomere shortening	chromosome, telomeric region|cytoplasm|nuclear telomere cap complex|nucleoplasm|nucleus|spindle	caspase activator activity|DNA bending activity|double-stranded telomeric DNA binding|identical protein binding|microtubule binding|protein heterodimerization activity|protein homodimerization activity|telomerase inhibitor activity|telomeric DNA binding			central_nervous_system(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	9	Breast(64;0.218)		Epithelial(68;0.0984)			TTTTTCAACACTTCAGCTACA	0.284													4	30					0.00909568	0.00944708	1	1	0	A	73937122	C	A	73937122	3	1	81	1	0	0	0	0	1	0	0	0	15820	564	20	4	708	4	TERF1	8	73937122	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	87147	73937122	72426900	6808	10424											
RPL7	6129	broad.mit.edu	37	8	74203795	74203795	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:74203795C>T	ENST00000396467.1	-	5	548	c.410G>A	c.(409-411)cGa>cAa	p.R137Q	RPL7_ENST00000352983.2_Missense_Mutation_p.R177Q|RPL7_ENST00000396466.1_Missense_Mutation_p.R137Q|RPL7_ENST00000396465.1_Missense_Mutation_p.R137Q	NM_000971.3	NP_000962.2	P18124	RL7_HUMAN	ribosomal protein L7	177					endocrine pancreas development|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	DNA binding|mRNA binding|protein homodimerization activity|structural constituent of ribosome			breast(1)|kidney(1)|large_intestine(2)|lung(1)	5	Breast(64;0.0954)		Epithelial(68;0.0193)|all cancers(69;0.0766)|BRCA - Breast invasive adenocarcinoma(89;0.134)			ACCAAGAGATCGAGCAATCAA	0.388													16	28					0	0	1	0	0	T	74203795	C	T	74203795	3	4	81	1	0	0	0	0	1	0	0	0	13651	884	31	1	224	1	RPL7	8	74203795	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	266673	74203795	72160227	6809	10425											
STAU2	27067	broad.mit.edu	37	8	74529527	74529527	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:74529527C>A	ENST00000355780.5	-	6	692	c.474G>T	c.(472-474)caG>caT	p.Q158H	STAU2_ENST00000521210.1_Splice_Site_p.Q86H|STAU2_ENST00000523558.1_Splice_Site_p.Q18H|STAU2_ENST00000522695.1_Splice_Site_p.Q158H|STAU2_ENST00000524300.1_Splice_Site_p.Q190H|STAU2_ENST00000521451.1_5'UTR|STAU2_ENST00000517542.1_Splice_Site_p.Q152H|STAU2_ENST00000521727.1_Splice_Site_p.Q170H|STAU2_ENST00000519961.1_Splice_Site_p.Q190H|STAU2_ENST00000522509.1_Splice_Site_p.Q158H	NM_014393.2	NP_055208.2	Q9NUL3	STAU2_HUMAN	staufen double-stranded RNA binding protein 2	190	DRBM 2.				transport	endoplasmic reticulum|microtubule|nucleolus	double-stranded RNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)	19	Breast(64;0.0138)		Epithelial(68;0.026)|BRCA - Breast invasive adenocarcinoma(89;0.0483)|all cancers(69;0.0972)			AGCACCACACCTGAGGAGATC	0.413													10	30					7.03913e-09	8.42519e-09	1	1	0	A	74529527	C	A	74529527	5	1	81	1	0	0	0	0	0	0	1	0	15329	695	24	4	1302	4	STAU2	8	74529527	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	325732	74529527	71834495	6810	10426											
STAU2	27067	broad.mit.edu	37	8	74650573	74650573	+	Translation_Start_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:74650573C>T	ENST00000355780.5	-	0	182				STAU2_ENST00000521210.1_De_novo_Start_InFrame|STAU2_ENST00000523558.1_Intron|STAU2_ENST00000524300.1_De_novo_Start_InFrame|STAU2_ENST00000522962.1_5'UTR|STAU2_ENST00000521451.1_Intron|STAU2_ENST00000521419.1_De_novo_Start_OutOfFrame|RP11-463D19.2_ENST00000358757.5_3'UTR|STAU2_ENST00000517542.1_Intron|STAU2_ENST00000524104.1_De_novo_Start_OutOfFrame|STAU2_ENST00000521727.1_Intron|STAU2_ENST00000519961.1_De_novo_Start_InFrame|STAU2_ENST00000522509.1_De_novo_Start_OutOfFrame	NM_014393.2	NP_055208.2	Q9NUL3	STAU2_HUMAN	staufen double-stranded RNA binding protein 2						transport	endoplasmic reticulum|microtubule|nucleolus	double-stranded RNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)	19	Breast(64;0.0138)		Epithelial(68;0.026)|BRCA - Breast invasive adenocarcinoma(89;0.0483)|all cancers(69;0.0972)			GTATCCCTCACGGCTCCAAAA	0.363													15	31					0	0	1	0	0	T	74650573	C	T	74650573	1	4	81	1	0	0	0	0	0	0	0	0	15329	551	19	1		1	STAU2	8	74650573	Translation_Start_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	121046	74650573	71713449	6811	10427											
JPH1	56704	broad.mit.edu	37	8	75227367	75227367	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:75227367G>A	ENST00000342232.4	-	2	908	c.868C>T	c.(868-870)Cgc>Tgc	p.R290C		NM_020647.2	NP_065698.1	Q9HDC5	JPH1_HUMAN	junctophilin 1	290					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional membrane complex|junctional sarcoplasmic reticulum membrane|plasma membrane				endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	24	Breast(64;0.00576)		BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)			AAGCCGTTGCGCTTGTCGTTC	0.537													43	55					0	0	1	0	0	A	75227367	G	A	75227367	3	1	81	1	0	0	0	0	1	0	0	0	8004	1087	38	1	1133	1	JPH1	8	75227367	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	576794	75227367	71136655	6812	10428											
CRISPLD1	83690	broad.mit.edu	37	8	75929589	75929589	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:75929589G>T	ENST00000262207.4	+	10	1499	c.1031G>T	c.(1030-1032)gGt>gTt	p.G344V	CRISPLD1_ENST00000517786.1_Missense_Mutation_p.G158V|CRISPLD1_ENST00000523524.1_Missense_Mutation_p.G156V	NM_031461.5	NP_113649.1	Q9H336	CRLD1_HUMAN	cysteine-rich secretory protein LCCL domain containing 1	344	LCCL 1.					extracellular region				biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(64;0.0799)		Epithelial(68;0.155)|BRCA - Breast invasive adenocarcinoma(89;0.161)			ATTCATTATGGTATAATAGAC	0.343													43	76					1.02591e-13	1.29588e-13	1	1	0	T	75929589	G	T	75929589	3	4	81	1	0	0	0	0	1	0	0	0	3905	1261	44	5	1065	5	CRISPLD1	8	75929589	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	702222	75929589	70434433	6813	10429											
HNF4G	3174	broad.mit.edu	37	8	76471094	76471094	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:76471094C>T	ENST00000396423.2	+	8	1039	c.915C>T	c.(913-915)atC>atT	p.I305I	HNF4G_ENST00000354370.1_Silent_p.I268I	NM_004133.4	NP_004124.4	Q14541	HNF4G_HUMAN	hepatocyte nuclear factor 4, gamma	268					endocrine pancreas development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	37	Breast(64;0.0448)		BRCA - Breast invasive adenocarcinoma(89;0.161)			AAGTGCAGATCGGTTTGGAGG	0.468													5	58					0	0	1	0	0	T	76471094	C	T	76471094	2	4	81	1	0	0	0	0	0	0	0	1	7295	874	31	1		1	HNF4G	8	76471094	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	541505	76471094	69892928	6814	10430											
HNF4G	3174	broad.mit.edu	37	8	76472629	76472629	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:76472629T>C	ENST00000396423.2	+	9	1268	c.1144T>C	c.(1144-1146)Tct>Cct	p.S382P	HNF4G_ENST00000354370.1_Missense_Mutation_p.S345P	NM_004133.4	NP_004124.4	Q14541	HNF4G_HUMAN	hepatocyte nuclear factor 4, gamma	345					endocrine pancreas development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	37	Breast(64;0.0448)		BRCA - Breast invasive adenocarcinoma(89;0.161)			TCCACATTTGTCTCAAGACCC	0.393													5	53					0	0	1	0	0	C	76472629	T	C	76472629	3	2	81	1	0	0	0	0	1	0	0	0	7295	1667	58	3	1178	3	HNF4G	8	76472629	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	1535	76472629	69891393	6815	10431											
ZFHX4	79776	broad.mit.edu	37	8	77763428	77763428	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:77763428C>T	ENST00000521891.2	+	10	4719	c.4271C>T	c.(4270-4272)gCg>gTg	p.A1424V	ZFHX4_ENST00000518282.1_Missense_Mutation_p.A1398V|ZFHX4_ENST00000455469.2_Missense_Mutation_p.A1379V|ZFHX4_ENST00000050961.6_Missense_Mutation_p.A1379V	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1379						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			ATTCGGGCTGCGACAATGTGT	0.458										HNSCC(33;0.089)			9	16					0	0	1	0	0	T	77763428	C	T	77763428	3	4	81	1	0	0	0	0	1	0	0	0	17693	768	27	1	4305	1	ZFHX4	8	77763428	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1290799	77763428	68600594	6816	10432											
ZFHX4	79776	broad.mit.edu	37	8	77765105	77765105	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:77765105G>A	ENST00000521891.2	+	10	6396	c.5948G>A	c.(5947-5949)cGt>cAt	p.R1983H	ZFHX4_ENST00000518282.1_Missense_Mutation_p.R1957H|ZFHX4_ENST00000455469.2_Missense_Mutation_p.R1938H|ZFHX4_ENST00000050961.6_Missense_Mutation_p.R1938H	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1938	Pro-rich.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R1983H(2)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AAATTTGCTCGTCAATACAGG	0.458										HNSCC(33;0.089)			13	18					0	0	1	0	0	A	77765105	G	A	77765105	3	1	81	1	0	0	0	0	1	0	0	0	17693	1145	40	1	5982	1	ZFHX4	8	77765105	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1677	77765105	68598917	6817	10433											
ZFHX4	79776	broad.mit.edu	37	8	77765762	77765762	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:77765762T>C	ENST00000521891.2	+	10	7053	c.6605T>C	c.(6604-6606)gTt>gCt	p.V2202A	ZFHX4_ENST00000518282.1_Missense_Mutation_p.V2176A|ZFHX4_ENST00000455469.2_Missense_Mutation_p.V2157A|ZFHX4_ENST00000050961.6_Missense_Mutation_p.V2157A	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2157						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CCTATAACGGTTTTAGAAGAT	0.358										HNSCC(33;0.089)			46	68					0	0	1	0	0	C	77765762	T	C	77765762	3	2	81	1	0	0	0	0	1	0	0	0	17693	1725	60	3	6639	3	ZFHX4	8	77765762	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	657	77765762	68598260	6818	10434											
ZFHX4	79776	broad.mit.edu	37	8	77766211	77766211	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:77766211T>A	ENST00000521891.2	+	10	7502	c.7054T>A	c.(7054-7056)Tcc>Acc	p.S2352T	ZFHX4_ENST00000518282.1_Missense_Mutation_p.S2326T|ZFHX4_ENST00000455469.2_Missense_Mutation_p.S2307T|ZFHX4_ENST00000050961.6_Missense_Mutation_p.S2307T	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2307	Pro-rich.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AACAGAAGACTCCATGGATGC	0.473										HNSCC(33;0.089)			13	130					0	0	1	0	0	A	77766211	T	A	77766211	3	1	81	1	0	0	0	0	1	0	0	0	17693	1551	54	5	7088	5	ZFHX4	8	77766211	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	449	77766211	68597811	6819	10435											
ZFHX4	79776	broad.mit.edu	37	8	77766653	77766653	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:77766653C>A	ENST00000521891.2	+	10	7944	c.7496C>A	c.(7495-7497)aCa>aAa	p.T2499K	ZFHX4_ENST00000518282.1_Missense_Mutation_p.T2473K|ZFHX4_ENST00000455469.2_Missense_Mutation_p.T2454K|ZFHX4_ENST00000050961.6_Missense_Mutation_p.T2454K	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2454						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GATCAGTGTACAGTTGCCTTC	0.493										HNSCC(33;0.089)			8	88					0.00307968	0.00324365	1	1	0	A	77766653	C	A	77766653	3	1	81	1	0	0	0	0	1	0	0	0	17693	478	17	5	7530	5	ZFHX4	8	77766653	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	442	77766653	68597369	6820	10436											
ZFHX4	79776	broad.mit.edu	37	8	77767503	77767503	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:77767503G>T	ENST00000521891.2	+	10	8794	c.8346G>T	c.(8344-8346)gaG>gaT	p.E2782D	ZFHX4_ENST00000518282.1_Missense_Mutation_p.E2756D|ZFHX4_ENST00000455469.2_Missense_Mutation_p.E2737D|ZFHX4_ENST00000050961.6_Missense_Mutation_p.E2737D	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2737						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AGGATGTAGAGAATTTAAATG	0.428										HNSCC(33;0.089)			5	32					0.184627	0.18622	1	1	0	T	77767503	G	T	77767503	3	4	81	1	0	0	0	0	1	0	0	0	17693	933	33	4	8380	4	ZFHX4	8	77767503	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	850	77767503	68596519	6821	10437											
MRPS28	28957	broad.mit.edu	37	8	80831363	80831363	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:80831363C>A	ENST00000276585.4	-	3	438	c.416G>T	c.(415-417)aGg>aTg	p.R139M	MRPS28_ENST00000521434.1_Missense_Mutation_p.R77M|MRPS28_ENST00000521605.1_Missense_Mutation_p.Q78H	NM_014018.2	NP_054737.1	Q9Y2Q9	RT28_HUMAN	mitochondrial ribosomal protein S28	139						mitochondrial small ribosomal subunit				endometrium(1)|large_intestine(1)|lung(2)|skin(1)	5	Lung NSC(7;1.86e-06)|all_lung(9;6.91e-06)		BRCA - Breast invasive adenocarcinoma(6;0.00769)|Epithelial(68;0.0208)|all cancers(69;0.0805)			CAACCGGACCCTGGTTCCTTT	0.358													10	72					0.000442599	0.000477972	1	1	0	A	80831363	C	A	80831363	3	1	81	1	0	0	0	0	1	0	0	0	9888	681	24	4	151	4	MRPS28	8	80831363	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3063860	80831363	65532659	6822	10438											
TPD52	7163	broad.mit.edu	37	8	80950356	80950356	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:80950356G>T	ENST00000379096.5	-	6	664	c.550C>A	c.(550-552)Ctg>Atg	p.L184M	TPD52_ENST00000537855.1_Intron|TPD52_ENST00000379097.3_Missense_Mutation_p.L224M|TPD52_ENST00000518937.1_Missense_Mutation_p.L207M|TPD52_ENST00000523395.1_5'UTR|TPD52_ENST00000517427.1_Missense_Mutation_p.L233M|TPD52_ENST00000448733.2_Missense_Mutation_p.L238M|TPD52_ENST00000519303.2_Missense_Mutation_p.L60M|TPD52_ENST00000520527.1_Missense_Mutation_p.L247M	NM_005079.2	NP_005070.1	P55327	TPD52_HUMAN	tumor protein D52	224					anatomical structure morphogenesis|B cell differentiation|secretion	endoplasmic reticulum|perinuclear region of cytoplasm	calcium ion binding|protein heterodimerization activity|protein homodimerization activity			endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	8	all_epithelial(4;1.13e-09)|Lung NSC(7;9.71e-07)|all_lung(9;3.75e-06)	Lung NSC(129;3.55e-06)|all_lung(136;1.53e-05)|Acute lymphoblastic leukemia(644;0.158)	BRCA - Breast invasive adenocarcinoma(6;0.00181)|Epithelial(68;0.0149)|all cancers(69;0.0612)			GAATCTCACAGGCTCTCCTGT	0.498													10	101					3.86212e-05	4.27865e-05	1	1	0	T	80950356	G	T	80950356	3	4	81	1	0	0	0	0	1	0	0	0	16458	991	35	4	8	4	TPD52	8	80950356	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	118993	80950356	65413666	6823	10439											
ZBTB10	65986	broad.mit.edu	37	8	81412269	81412269	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:81412269C>T	ENST00000430430.1	+	3	2292	c.1513C>T	c.(1513-1515)Cgg>Tgg	p.R505W	ZBTB10_ENST00000455036.3_Missense_Mutation_p.R505W|ZBTB10_ENST00000379091.4_Missense_Mutation_p.R213W|ZBTB10_ENST00000426744.2_Missense_Mutation_p.R505W	NM_001277145.1	NP_001264074.1	Q96DT7	ZBT10_HUMAN	zinc finger and BTB domain containing 10	505					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(4)	20	all_cancers(3;1.68e-09)|all_epithelial(4;5.13e-11)|Lung NSC(7;1.75e-07)|all_lung(9;7.38e-07)|Breast(3;2.96e-06)		BRCA - Breast invasive adenocarcinoma(6;0.000434)|Epithelial(68;0.00486)|all cancers(69;0.0296)			TTGGGCAACACGGAATCTTAC	0.373													10	111					0	0	1	0	0	T	81412269	C	T	81412269	3	4	81	1	0	0	0	0	1	0	0	0	17582	527	19	1	1519	1	ZBTB10	8	81412269	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	461913	81412269	64951753	6824	10440											
ZNF704	619279	broad.mit.edu	37	8	81733613	81733613	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:81733613C>T	ENST00000327835.3	-	2	448	c.217G>A	c.(217-219)Gca>Aca	p.A73T		NM_001033723.2	NP_001028895.1	Q6ZNC4	ZN704_HUMAN	zinc finger protein 704	73						intracellular	zinc ion binding			lung(9)|skin(1)|upper_aerodigestive_tract(1)	11	all_cancers(3;8.53e-08)|all_epithelial(4;4.59e-10)|Breast(3;2.56e-06)|Lung NSC(7;2.58e-06)|all_lung(9;9.4e-06)		BRCA - Breast invasive adenocarcinoma(6;0.00401)|Epithelial(68;0.00448)|all cancers(69;0.0277)			CCTTACCTTGCTGGAGGAACA	0.448													94	144					0	0	1	0	0	T	81733613	C	T	81733613	3	4	81	1	0	0	0	0	1	0	0	0	18163	797	28	2	1053	2	ZNF704	8	81733613	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	321344	81733613	64630409	6825	10441											
PAG1	55824	broad.mit.edu	37	8	81899628	81899628	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:81899628T>G	ENST00000220597.4	-	6	961	c.251A>C	c.(250-252)aAt>aCt	p.N84T		NM_018440.3	NP_060910.3	Q9NWQ8	PAG1_HUMAN	phosphoprotein associated with glycosphingolipid microdomains 1	84					epidermal growth factor receptor signaling pathway|intracellular signal transduction|T cell receptor signaling pathway	integral to membrane|intracellular|membrane raft|plasma membrane	SH2 domain binding|SH3/SH2 adaptor activity			breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(2)	11	Lung NSC(7;5.76e-06)|all_lung(9;2e-05)		BRCA - Breast invasive adenocarcinoma(6;0.0567)|Epithelial(68;0.0634)|all cancers(69;0.197)			GAGTGCCCCATTCTGCTCACT	0.463													5	43					0	0	1	0	0	G	81899628	T	G	81899628	3	3	81	1	0	0	0	0	1	0	0	0	11435	1493	52	4	1063	4	PAG1	8	81899628	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	166015	81899628	64464394	6826	10442											
PMP2	5375	broad.mit.edu	37	8	82359586	82359586	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:82359586G>T	ENST00000256103.2	-	1	172	c.36C>A	c.(34-36)gtC>gtA	p.V12V	RP11-157I4.4_ENST00000524085.2_RNA|PMP2_ENST00000519260.1_Silent_p.V12V	NM_002677.3	NP_002668.1	P02689	MYP2_HUMAN	peripheral myelin protein 2	12						cytoplasm	cholesterol binding|fatty acid binding|transporter activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6			Epithelial(68;0.186)			TCTCACTAGAGACAAGTTTCC	0.408													25	84					1.32181e-22	1.7371e-22	1	1	0	T	82359586	G	T	82359586	2	4	81	1	0	0	0	0	0	0	0	1	12186	929	33	4		4	PMP2	8	82359586	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	459958	82359586	64004436	6827	10443											
SLC10A5	347051	broad.mit.edu	37	8	82606128	82606128	+	Silent	SNP	C	C	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:82606128C>G	ENST00000518568.1	-	1	2281	c.1080G>C	c.(1078-1080)ctG>ctC	p.L360L		NM_001010893.2	NP_001010893.1	Q5PT55	NTCP5_HUMAN	solute carrier family 10, member 5	360						integral to membrane	bile acid:sodium symporter activity			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)	15						CAGGAAGAGGCAGCGTACAAA	0.408													23	40					0	0	1	0	0	G	82606128	C	G	82606128	2	3	81	1	0	0	0	0	0	0	0	1	14432	697	25	5		5	SLC10A5	8	82606128	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	246542	82606128	63757894	6828	10444											
ZFAND1	79752	broad.mit.edu	37	8	82615065	82615065	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:82615065G>T	ENST00000521895.1	-	7	602	c.343C>A	c.(343-345)Ctt>Att	p.L115I	ZFAND1_ENST00000523096.1_Silent_p.A217A|ZFAND1_ENST00000522520.1_Silent_p.A117A|ZFAND1_ENST00000519338.1_5'UTR|ZFAND1_ENST00000220669.5_Silent_p.A224A|ZFAND1_ENST00000521287.1_Silent_p.A117A			Q8TCF1	ZFAN1_HUMAN	zinc finger, AN1-type domain 1	0							zinc ion binding			kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13						CCAAGGGTAAGGCTTCTCCTG	0.358													7	141					0.00448238	0.00470627	1	1	0	T	82615065	G	T	82615065	3	4	81	1	0	0	0	0	1	0	0	0	17684	987	35	4	138	4	ZFAND1	8	82615065	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	8937	82615065	63748957	6829	10445											
RALYL	138046	broad.mit.edu	37	8	85441713	85441713	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:85441713G>A	ENST00000521268.1	+	2	1262	c.157G>A	c.(157-159)Gtt>Att	p.V53I	RALYL_ENST00000517638.1_Missense_Mutation_p.V66I|RALYL_ENST00000521695.1_Missense_Mutation_p.V53I|RALYL_ENST00000522455.1_Missense_Mutation_p.V53I|RALYL_ENST00000518566.1_Missense_Mutation_p.V53I	NM_173848.5	NP_776247.3	Q86SE5	RALYL_HUMAN	RALY RNA binding protein-like	53	RRM.						identical protein binding|nucleotide binding|RNA binding	p.V53I(3)		endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)	24						TGGATGTTCCGTTCACAAAGG	0.438													4	35					0	0	1	0	0	A	85441713	G	A	85441713	3	1	81	1	0	0	0	0	1	0	0	0	13072	1145	40	1	202	1	RALYL	8	85441713	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2826648	85441713	60922309	6830	10446											
LRRCC1	85444	broad.mit.edu	37	8	86021909	86021909	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:86021909G>A	ENST00000414626.2	+	1	1013	c.124G>A	c.(124-126)Gat>Aat	p.D42N	LRRCC1_ENST00000360375.3_Missense_Mutation_p.D62N			Q9C099	LRCC1_HUMAN	leucine rich repeat and coiled-coil centrosomal protein 1	62					cell division|mitosis	centriole|nucleus				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						CGAAGCCATTGATCATATTTG	0.308													4	24					0	0	1	0	0	A	86021909	G	A	86021909	3	1	81	1	0	0	0	0	1	0	0	0	9071	1290	45	2	190	2	LRRCC1	8	86021909	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	580196	86021909	60342113	6831	10447											
LRRCC1	85444	broad.mit.edu	37	8	86035730	86035730	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:86035730G>A	ENST00000414626.2	+	6	1842	c.953G>A	c.(952-954)gGa>gAa	p.G318E	LRRCC1_ENST00000360375.3_Missense_Mutation_p.G338E			Q9C099	LRCC1_HUMAN	leucine rich repeat and coiled-coil centrosomal protein 1	338					cell division|mitosis	centriole|nucleus				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						AGTGACTATGGAAACAGAAAA	0.328													38	45					0	0	1	0	0	A	86035730	G	A	86035730	3	1	81	1	0	0	0	0	1	0	0	0	9071	1174	41	2	1039	2	LRRCC1	8	86035730	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	13821	86035730	60328292	6832	10448											
LRRCC1	85444	broad.mit.edu	37	8	86044046	86044046	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:86044046C>A	ENST00000414626.2	+	11	2647	c.1758C>A	c.(1756-1758)gcC>gcA	p.A586A	LRRCC1_ENST00000360375.3_Silent_p.A606A			Q9C099	LRCC1_HUMAN	leucine rich repeat and coiled-coil centrosomal protein 1	606					cell division|mitosis	centriole|nucleus				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						TCCAGGATGCCTTAGCTAAAG	0.358													15	36					2.35188e-11	2.91332e-11	1	1	0	A	86044046	C	A	86044046	2	1	81	1	0	0	0	0	0	0	0	1	9071	668	24	4		4	LRRCC1	8	86044046	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	8316	86044046	60319976	6833	10449											
E2F5	1875	broad.mit.edu	37	8	86124439	86124439	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:86124439G>A	ENST00000418930.2	+	7	1124	c.928G>A	c.(928-930)Gtg>Atg	p.V310M	E2F5_ENST00000519128.1_3'UTR|E2F5_ENST00000517476.1_Splice_Site_p.V150M|E2F5_ENST00000416274.2_Splice_Site_p.V311M|E2F5_ENST00000521429.1_Splice_Site_p.V138M|E2F5_ENST00000256117.5_Splice_Site_p.V312M			Q15329	E2F5_HUMAN	E2F transcription factor 5, p130-binding	311	Transactivation (Potential).				G1 phase of mitotic cell cycle	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			NS(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)	8						GTCTTCTGACGGTAAGTAGGT	0.294													3	31					0	0	1	0	0	A	86124439	G	A	86124439	5	1	81	1	0	0	0	0	0	0	1	0	4896	1130	39	1	957	1	E2F5	8	86124439	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	80393	86124439	60239583	6834	10450											
C8orf59	401466	broad.mit.edu	37	8	86129663	86129663	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:86129663G>T	ENST00000417663.2	-	2	137	c.66C>A	c.(64-66)aaC>aaA	p.N22K	C8orf59_ENST00000321777.5_Missense_Mutation_p.N22K|C8orf59_ENST00000518091.1_Missense_Mutation_p.N22K|C8orf59_ENST00000545322.1_Missense_Mutation_p.N22K|C8orf59_ENST00000458398.2_Missense_Mutation_p.N22K|C8orf59_ENST00000421308.2_Missense_Mutation_p.N22K|C8orf59_ENST00000431163.2_Missense_Mutation_p.N22K|C8orf59_ENST00000518562.1_Missense_Mutation_p.N22K|C8orf59_ENST00000524353.1_Missense_Mutation_p.N22K	NM_001099670.1|NM_001099671.1|NM_001099672.1|NM_001099673.1	NP_001093140.1|NP_001093141.1|NP_001093142.1|NP_001093143	Q8N0T1	CH059_HUMAN	chromosome 8 open reading frame 59	22																	TAGCCTTAAAGTTTTTTTGGC	0.338													28	61					2.49675e-24	3.29553e-24	1	1	0	T	86129663	G	T	86129663	3	4	81	1	0	0	0	0	1	0	0	0	2452	1020	36	4	242	4	C8orf59	8	86129663	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	5224	86129663	60234359	6835	10451											
CA13	377677	broad.mit.edu	37	8	86158064	86158064	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:86158064A>T	ENST00000321764.3	+	1	309	c.7A>T	c.(7-9)Agg>Tgg	p.R3W	CA13_ENST00000517298.1_Intron	NM_198584.2	NP_940986.1	Q8N1Q1	CAH13_HUMAN	carbonic anhydrase XIII	3					one-carbon metabolic process		carbonate dehydratase activity|zinc ion binding			large_intestine(1)|lung(6)	7						GACCATGTCGAGGCTCAGCTG	0.662													51	148					0	0	1	0	0	T	86158064	A	T	86158064	3	4	81	1	0	0	0	0	1	0	0	0	2532	295	11	5	9	5	CA13	8	86158064	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	28401	86158064	60205958	6836	10452											
PSKH2	85481	broad.mit.edu	37	8	87076754	87076754	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:87076754C>A	ENST00000276616.2	-	2	366	c.292G>T	c.(292-294)Gag>Tag	p.E98*	PSKH2_ENST00000517981.1_5'UTR	NM_033126.1	NP_149117.1	Q96QS6	KPSH2_HUMAN	protein serine kinase H2	98	Protein kinase.						ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|kidney(11)|large_intestine(2)|lung(26)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(1)	47			STAD - Stomach adenocarcinoma(118;0.129)			CCTTCCCTCTCTCTGGTTTCC	0.502													29	61					7.38237e-10	8.97233e-10	1	1	0	A	87076754	C	A	87076754	4	1	81	1	0	0	0	0	0	1	0	0	12714	922	32	4	871	4	PSKH2	8	87076754	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	918690	87076754	59287268	6837	10453											
ATP6V0D2	245972	broad.mit.edu	37	8	87111268	87111268	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:87111268C>T	ENST00000285393.3	+	1	203	c.61C>T	c.(61-63)Cga>Tga	p.R21*	CTD-3118D11.2_ENST00000522679.1_RNA	NM_152565.1	NP_689778.1	Q8N8Y2	VA0D2_HUMAN	ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d2	21					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	apical plasma membrane|endosome membrane|proton-transporting V-type ATPase, V0 domain|vacuolar proton-transporting V-type ATPase complex	hydrogen ion transmembrane transporter activity|protein binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(9)|prostate(1)	27						GGGCCTGGTTCGAGGATGCAA	0.532													16	29					0	0	1	0	0	T	87111268	C	T	87111268	4	4	81	1	0	0	0	0	0	1	0	0	1172	876	31	1	63	1	ATP6V0D2	8	87111268	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	34514	87111268	59252754	6838	10454											
ATP6V0D2	245972	broad.mit.edu	37	8	87165057	87165057	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:87165057G>A	ENST00000285393.3	+	8	1046	c.904G>A	c.(904-906)Gtg>Atg	p.V302M	CTD-3118D11.2_ENST00000522679.1_RNA	NM_152565.1	NP_689778.1	Q8N8Y2	VA0D2_HUMAN	ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d2	302					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	apical plasma membrane|endosome membrane|proton-transporting V-type ATPase, V0 domain|vacuolar proton-transporting V-type ATPase complex	hydrogen ion transmembrane transporter activity|protein binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(9)|prostate(1)	27						ACAAATGAATGTGCTGGCATT	0.353													6	98					0	0	1	0	0	A	87165057	G	A	87165057	3	1	81	1	0	0	0	0	1	0	0	0	1172	1377	48	2	934	2	ATP6V0D2	8	87165057	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	53789	87165057	59198965	6839	10455											
SLC7A13	157724	broad.mit.edu	37	8	87242328	87242328	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:87242328G>A	ENST00000297524.3	-	1	282	c.179C>T	c.(178-180)gCc>gTc	p.A60V	SLC7A13_ENST00000419776.2_Missense_Mutation_p.A60V|SLC7A13_ENST00000520624.1_Intron	NM_138817.2	NP_620172.2	Q8TCU3	S7A13_HUMAN	solute carrier family 7 (anionic amino acid transporter), member 13	60						integral to membrane	amino acid transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	45						TGATGTCATGGCCAGTATGGC	0.483													6	50					0	0	1	0	0	A	87242328	G	A	87242328	3	1	81	1	0	0	0	0	1	0	0	0	14750	1203	42	2	1249	2	SLC7A13	8	87242328	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	77271	87242328	59121694	6840	10456											
WWP1	11059	broad.mit.edu	37	8	87447713	87447713	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:87447713G>A	ENST00000517970.1	+	15	1941	c.1634G>A	c.(1633-1635)cGc>cAc	p.R545H	WWP1_ENST00000265428.4_Missense_Mutation_p.R545H|WWP1_ENST00000341922.2_Missense_Mutation_p.R415H|WWP1_ENST00000349423.2_Missense_Mutation_p.R327H	NM_007013.3	NP_008944.1	Q9H0M0	WWP1_HUMAN	WW domain containing E3 ubiquitin protein ligase 1	545					central nervous system development|entry of virus into host cell|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|signal transduction	cytoplasm|nucleus|plasma membrane|ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			endometrium(3)|kidney(2)|large_intestine(9)|liver(4)|lung(10)|prostate(2)|urinary_tract(1)	31						GCTTATGAACGCGGCTTTAGG	0.299													23	34					0	0	1	0	0	A	87447713	G	A	87447713	3	1	81	1	0	0	0	0	1	0	0	0	17475	1087	38	1	1684	1	WWP1	8	87447713	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	205385	87447713	58916309	6841	10457											
WWP1	11059	broad.mit.edu	37	8	87474066	87474066	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:87474066G>A	ENST00000517970.1	+	24	2967	c.2660G>A	c.(2659-2661)aGc>aAc	p.S887N	WWP1_ENST00000265428.4_Missense_Mutation_p.S887N|WWP1_ENST00000341922.2_Missense_Mutation_p.S757N|WWP1_ENST00000349423.2_Missense_Mutation_p.S669N	NM_007013.3	NP_008944.1	Q9H0M0	WWP1_HUMAN	WW domain containing E3 ubiquitin protein ligase 1	887	HECT.				central nervous system development|entry of virus into host cell|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|signal transduction	cytoplasm|nucleus|plasma membrane|ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			endometrium(3)|kidney(2)|large_intestine(9)|liver(4)|lung(10)|prostate(2)|urinary_tract(1)	31						TTACCAAGAAGCCATACATGG	0.348													34	54					0	0	1	0	0	A	87474066	G	A	87474066	3	1	81	1	0	0	0	0	1	0	0	0	17475	971	34	2	2746	2	WWP1	8	87474066	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	26353	87474066	58889956	6842	10458											
WWP1	11059	broad.mit.edu	37	8	87479030	87479030	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:87479030C>T	ENST00000517970.1	+	25	2984	c.2677C>T	c.(2677-2679)Cgc>Tgc	p.R893C	WWP1_ENST00000265428.4_Missense_Mutation_p.R893C|WWP1_ENST00000341922.2_Missense_Mutation_p.R763C|WWP1_ENST00000349423.2_Missense_Mutation_p.R675C	NM_007013.3	NP_008944.1	Q9H0M0	WWP1_HUMAN	WW domain containing E3 ubiquitin protein ligase 1	893	HECT.				central nervous system development|entry of virus into host cell|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|signal transduction	cytoplasm|nucleus|plasma membrane|ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			endometrium(3)|kidney(2)|large_intestine(9)|liver(4)|lung(10)|prostate(2)|urinary_tract(1)	31						CAGTTTTAATCGCTTGGATCT	0.308													32	75					0	0	1	0	0	T	87479030	C	T	87479030	3	4	81	1	0	0	0	0	1	0	0	0	17475	884	31	1	2767	1	WWP1	8	87479030	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	4964	87479030	58884992	6843	10459											
CNGB3	54714	broad.mit.edu	37	8	87656038	87656038	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:87656038C>A	ENST00000320005.5	-	10	1166	c.1119G>T	c.(1117-1119)tgG>tgT	p.W373C		NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	373					signal transduction|visual perception	integral to membrane	cGMP binding			NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						AGTTTGAAGCCCAGTAATAAA	0.353													12	91					6.40141e-05	7.07494e-05	1	1	0	A	87656038	C	A	87656038	3	1	81	1	0	0	0	0	1	0	0	0	3624	624	22	5	1346	5	CNGB3	8	87656038	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	177008	87656038	58707984	6844	10460											
DCAF4L2	138009	broad.mit.edu	37	8	88885128	88885128	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:88885128C>T	ENST00000319675.3	-	1	1168	c.1072G>A	c.(1072-1074)Gcc>Acc	p.A358T		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	358										breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						TTCTCCGAGGCGGGGTATGGG	0.622													23	32					0	0	1	0	0	T	88885128	C	T	88885128	3	4	81	1	0	0	0	0	1	0	0	0	4296	768	27	1	119	1	DCAF4L2	8	88885128	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1229090	88885128	57478894	6845	10461											
DCAF4L2	138009	broad.mit.edu	37	8	88885738	88885738	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:88885738G>T	ENST00000319675.3	-	1	558	c.462C>A	c.(460-462)agC>agA	p.S154R		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	154										breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						GCACGGCACAGCTTGGAGTAT	0.552													13	50					0.00010058	0.000110448	1	1	0	T	88885738	G	T	88885738	3	4	81	1	0	0	0	0	1	0	0	0	4296	962	34	4	729	4	DCAF4L2	8	88885738	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	610	88885738	57478284	6846	10462											
MMP16	4325	broad.mit.edu	37	8	89053797	89053797	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:89053797G>T	ENST00000286614.6	-	10	1997	c.1716C>A	c.(1714-1716)atC>atA	p.I572I		NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	572					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						ATAAGGCCAAGATGCAGGGAA	0.458													8	95					0.000157383	0.000171784	1	1	0	T	89053797	G	T	89053797	2	4	81	1	0	0	0	0	0	0	0	1	9703	932	33	4		4	MMP16	8	89053797	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	168059	89053797	57310225	6847	10463											
NBN	4683	broad.mit.edu	37	8	90960053	90960053	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:90960053G>A	ENST00000265433.3	-	12	2067	c.1913C>T	c.(1912-1914)tCt>tTt	p.S638F	NBN_ENST00000409330.1_Splice_Site_p.S556F	NM_002485.4	NP_002476.2	O60934	NBN_HUMAN	nibrin	638					cell cycle arrest|DNA damage response, signal transduction by p53 class mediator|DNA duplex unwinding|double-strand break repair via homologous recombination|meiosis|mitotic cell cycle G1/S transition checkpoint|mitotic cell cycle G2/M transition DNA damage checkpoint|positive regulation of kinase activity|positive regulation of protein autophosphorylation|regulation of DNA-dependent DNA replication initiation|telomere maintenance	Mre11 complex|nuclear chromosome, telomeric region|nuclear inclusion body|nucleolus|nucleoplasm	protein N-terminus binding|transcription factor binding			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(11;0.0344)			GTTTCTCACAGATATTTCTTT	0.303								Homologous recombination					6	9					0	0	1	0	0	A	90960053	G	A	90960053	5	1	81	1	0	0	0	0	0	0	1	0	10239	956	33	2	371	2	NBN	8	90960053	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1906256	90960053	55403969	6848	10464											
NBN	4683	broad.mit.edu	37	8	90993001	90993001	+	Silent	SNP	G	G	A	rs137857529	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:90993001G>A	ENST00000265433.3	-	4	595	c.441C>T	c.(439-441)tgC>tgT	p.C147C	NBN_ENST00000409330.1_Silent_p.C65C	NM_002485.4	NP_002476.2	O60934	NBN_HUMAN	nibrin	147	BRCT.				cell cycle arrest|DNA damage response, signal transduction by p53 class mediator|DNA duplex unwinding|double-strand break repair via homologous recombination|meiosis|mitotic cell cycle G1/S transition checkpoint|mitotic cell cycle G2/M transition DNA damage checkpoint|positive regulation of kinase activity|positive regulation of protein autophosphorylation|regulation of DNA-dependent DNA replication initiation|telomere maintenance	Mre11 complex|nuclear chromosome, telomeric region|nuclear inclusion body|nucleolus|nucleoplasm	protein N-terminus binding|transcription factor binding			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(11;0.0344)			CAAGGTGAGTGCATTCTTCTG	0.338								Homologous recombination					7	74					0	0	1	0	0	A	90993001	G	A	90993001	2	1	81	1	0	0	0	0	0	0	0	1	10239	1311	46	2		2	NBN	8	90993001	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	32948	90993001	55371021	6849	10465											
DECR1	1666	broad.mit.edu	37	8	91033202	91033202	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:91033202G>A	ENST00000522161.1	+	7	1139	c.456G>A	c.(454-456)tgG>tgA	p.W152*	DECR1_ENST00000519007.1_3'UTR|DECR1_ENST00000220764.2_Nonsense_Mutation_p.W161*			Q16698	DECR_HUMAN	2,4-dienoyl CoA reductase 1, mitochondrial	161					fatty acid beta-oxidation|protein homotetramerization	mitochondrial matrix|nucleus|plasma membrane	2,4-dienoyl-CoA reductase (NADPH) activity|NADPH binding|oxidoreductase activity, acting on NADH or NADPH			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	15			BRCA - Breast invasive adenocarcinoma(11;0.00953)			CTAATGCTTGGAAAACCATAA	0.333													30	37					0	0	1	0	0	A	91033202	G	A	91033202	4	1	81	1	0	0	0	0	0	1	0	0	4405	1183	41	2	501	2	DECR1	8	91033202	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	40201	91033202	55330820	6850	10466											
CALB1	793	broad.mit.edu	37	8	91072448	91072448	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:91072448G>A	ENST00000265431.3	-	11	920	c.739C>T	c.(739-741)Ctg>Ttg	p.L247L	CALB1_ENST00000518457.1_Silent_p.L190L	NM_004929.2	NP_004920.1	P05937	CALB1_HUMAN	calbindin 1, 28kDa	247						nucleus	calcium ion binding|vitamin D binding			breast(1)|kidney(1)|lung(8)|pancreas(1)	11			BRCA - Breast invasive adenocarcinoma(11;0.00953)			GTTCGGTACAGCTTCCCTCCA	0.393													55	70					0	0	1	0	0	A	91072448	G	A	91072448	2	1	81	1	0	0	0	0	0	0	0	1	2591	962	34	2		2	CALB1	8	91072448	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	39246	91072448	55291574	6851	10467											
CALB1	793	broad.mit.edu	37	8	91094331	91094331	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:91094331C>A	ENST00000265431.3	-	2	261		c.e2-1			NM_004929.2	NP_004920.1	P05937	CALB1_HUMAN	calbindin 1, 28kDa							nucleus	calcium ion binding|vitamin D binding			breast(1)|kidney(1)|lung(8)|pancreas(1)	11			BRCA - Breast invasive adenocarcinoma(11;0.00953)			TAACCACTTCCTGCAAAGACA	0.502													7	101					0.00198382	0.00209725	1	1	0	A	91094331	C	A	91094331	5	1	81	1	0	0	0	0	0	0	1	0	2591	695	24	4	746	4	CALB1	8	91094331	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	21883	91094331	55269691	6852	10468											
OTUD6B	51633	broad.mit.edu	37	8	92090721	92090721	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:92090721G>A	ENST00000285420.4	+	4	642	c.543G>A	c.(541-543)caG>caA	p.Q181Q	OTUD6B_ENST00000404789.3_Silent_p.Q50Q	NM_016023.3	NP_057107.3	Q8N6M0	OTU6B_HUMAN	OTU domain containing 6B	151	OTU.									endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11			BRCA - Breast invasive adenocarcinoma(11;0.0187)			AAATTAAACAGATTCCATCTG	0.408													3	4					0	0	1	0	0	A	92090721	G	A	92090721	2	1	81	1	0	0	0	0	0	0	0	1	11364	933	33	2		2	OTUD6B	8	92090721	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	996390	92090721	54273301	6853	10469											
SLC26A7	115111	broad.mit.edu	37	8	92261894	92261894	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:92261894G>T	ENST00000276609.3	+	2	254	c.15G>T	c.(13-15)aaG>aaT	p.K5N	SLC26A7_ENST00000523719.1_Missense_Mutation_p.K5N|SLC26A7_ENST00000309536.2_Missense_Mutation_p.K5N	NM_001282356.1|NM_052832.2	NP_001269285.1|NP_439897.1	Q8TE54	S26A7_HUMAN	solute carrier family 26 (anion exchanger), member 7	5						basolateral plasma membrane|integral to membrane|recycling endosome membrane	anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50			BRCA - Breast invasive adenocarcinoma(11;0.00802)			CAGGAGCAAAGAGGAAAAAGA	0.413													5	34					8.12818e-05	8.94031e-05	1	1	0	T	92261894	G	T	92261894	3	4	81	1	0	0	0	0	1	0	0	0	14577	933	33	4	17	4	SLC26A7	8	92261894	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	171173	92261894	54102128	6854	10470											
SLC26A7	115111	broad.mit.edu	37	8	92330558	92330558	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:92330558C>A	ENST00000276609.3	+	5	831	c.592C>A	c.(592-594)Ctc>Atc	p.L198I	SLC26A7_ENST00000523719.1_Missense_Mutation_p.L198I|SLC26A7_ENST00000309536.2_Missense_Mutation_p.L198I	NM_001282356.1|NM_052832.2	NP_001269285.1|NP_439897.1	Q8TE54	S26A7_HUMAN	solute carrier family 26 (anion exchanger), member 7	198						basolateral plasma membrane|integral to membrane|recycling endosome membrane	anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50			BRCA - Breast invasive adenocarcinoma(11;0.00802)			AGTCAAATATCTCTTGGGAAT	0.443													8	80					5.18039e-06	5.88187e-06	1	1	0	A	92330558	C	A	92330558	3	1	81	1	0	0	0	0	1	0	0	0	14577	913	32	4	606	4	SLC26A7	8	92330558	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	68664	92330558	54033464	6855	10471											
SLC26A7	115111	broad.mit.edu	37	8	92352738	92352738	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:92352738G>T	ENST00000276609.3	+	8	1224	c.985G>T	c.(985-987)Gga>Tga	p.G329*	SLC26A7_ENST00000523719.1_Nonsense_Mutation_p.G329*|SLC26A7_ENST00000309536.2_Nonsense_Mutation_p.G329*	NM_001282356.1|NM_052832.2	NP_001269285.1|NP_439897.1	Q8TE54	S26A7_HUMAN	solute carrier family 26 (anion exchanger), member 7	329						basolateral plasma membrane|integral to membrane|recycling endosome membrane	anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50			BRCA - Breast invasive adenocarcinoma(11;0.00802)			TCTTGCTCAAGGATCTGCCAA	0.512													11	41					1.08611e-07	1.27405e-07	1	1	0	T	92352738	G	T	92352738	4	4	81	1	0	0	0	0	0	1	0	0	14577	1001	35	4	1011	4	SLC26A7	8	92352738	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	22180	92352738	54011284	6856	10472											
RUNX1T1	862	broad.mit.edu	37	8	92972475	92972475	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:92972475G>A	ENST00000523629.1	-	12	2264	c.1810C>T	c.(1810-1812)Cgc>Tgc	p.R604C	RUNX1T1_ENST00000396218.1_Missense_Mutation_p.R577C|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.R604C|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.R615C|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.R567C|RUNX1T1_ENST00000520724.1_Missense_Mutation_p.R567C|RUNX1T1_ENST00000518844.1_Missense_Mutation_p.R577C|RUNX1T1_ENST00000422361.2_Missense_Mutation_p.R567C	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	604					generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			CACGTCTAGCGAGGGGTTGTC	0.542													6	8					0	0	1	0	0	A	92972475	G	A	92972475	3	1	81	1	0	0	0	0	1	0	0	0	13799	1058	37	1	8	1	RUNX1T1	8	92972475	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	619737	92972475	53391547	6857	10473											
RBM12B	389677	broad.mit.edu	37	8	94746082	94746082	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:94746082C>A	ENST00000399300.2	-	3	2770	c.2557G>T	c.(2557-2559)Gaa>Taa	p.E853*	RBM12B_ENST00000517700.1_Nonsense_Mutation_p.E733*|RP11-10N23.4_ENST00000517998.1_RNA|RBM12B_ENST00000520961.1_Intron	NM_203390.2	NP_976324.2	Q8IXT5	RB12B_HUMAN	RNA binding motif protein 12B	853							nucleotide binding|RNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			TCCGGAGCTTCCCTAAGGTCT	0.527													7	82					2.7689e-08	3.2887e-08	1	1	0	A	94746082	C	A	94746082	4	1	81	1	0	0	0	0	0	1	0	0	13166	864	30	5	452	5	RBM12B	8	94746082	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1773607	94746082	51617940	6858	10474											
RBM12B	389677	broad.mit.edu	37	8	94748355	94748355	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:94748355C>T	ENST00000399300.2	-	3	497	c.284G>A	c.(283-285)cGt>cAt	p.R95H	RBM12B_ENST00000517700.1_Missense_Mutation_p.R95H|RBM12B_ENST00000520961.1_Intron	NM_203390.2	NP_976324.2	Q8IXT5	RB12B_HUMAN	RNA binding motif protein 12B	95							nucleotide binding|RNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			AGATCCTGGACGCCCTCTTCC	0.408													64	121					0	0	1	0	0	T	94748355	C	T	94748355	3	4	81	1	0	0	0	0	1	0	0	0	13166	536	19	1	2725	1	RBM12B	8	94748355	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2273	94748355	51615667	6859	10475											
TMEM67	91147	broad.mit.edu	37	8	94793134	94793134	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:94793134A>G	ENST00000453321.3	+	9	960	c.902A>G	c.(901-903)gAc>gGc	p.D301G	TMEM67_ENST00000425545.2_3'UTR|TMEM67_ENST00000409623.3_Missense_Mutation_p.D220G	NM_153704.5	NP_714915.3	Q5HYA8	MKS3_HUMAN	transmembrane protein 67	301					cilium assembly|ER-associated protein catabolic process|negative regulation of centrosome duplication	centrosome|cilium membrane|cytoplasmic vesicle membrane|endoplasmic reticulum membrane|integral to membrane|microtubule basal body	unfolded protein binding			breast(3)|endometrium(8)|kidney(5)|large_intestine(4)|liver(2)|lung(15)|ovary(2)|skin(1)|urinary_tract(1)	41	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.00896)			TTTTATGGAGACCAGTTAGGA	0.318													54	98					0	0	1	0	0	G	94793134	A	G	94793134	3	3	81	1	0	0	0	0	1	0	0	0	16256	275	10	3	1074	3	TMEM67	8	94793134	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	44779	94793134	51570888	6860	10476											
PDP1	54704	broad.mit.edu	37	8	94934696	94934696	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:94934696G>T	ENST00000396200.3	+	3	760	c.484G>T	c.(484-486)Ggg>Tgg	p.G162W	PDP1_ENST00000297598.4_Missense_Mutation_p.G137W|PDP1_ENST00000520728.1_Missense_Mutation_p.G137W|PDP1_ENST00000517764.1_Missense_Mutation_p.G137W	NM_001161779.1	NP_001155251.1	Q9P0J1	PDP1_HUMAN	pyruvate dehyrogenase phosphatase catalytic subunit 1	137					pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix|protein serine/threonine phosphatase complex	[pyruvate dehydrogenase (lipoamide)] phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)	18						GCAGACCAGAGGGATGCTTTT	0.473													6	65					0.00116845	0.00124301	1	1	0	T	94934696	G	T	94934696	3	4	81	1	0	0	0	0	1	0	0	0	11732	1000	35	4	592	4	PDP1	8	94934696	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	141562	94934696	51429326	6861	10477											
CDH17	1015	broad.mit.edu	37	8	95183096	95183096	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:95183096C>A	ENST00000027335.3	-	8	1025	c.901G>T	c.(901-903)Gaa>Taa	p.E301*	CDH17_ENST00000441892.2_Intron|CDH17_ENST00000450165.2_Nonsense_Mutation_p.E301*	NM_004063.3	NP_004054.3	Q12864	CAD17_HUMAN	cadherin 17, LI cadherin (liver-intestine)	301	Cadherin 3.					integral to membrane	calcium ion binding			NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			TCCTTTTCTTCTCGGTCCAAG	0.418													6	105					0.0293803	0.0300537	1	1	0	A	95183096	C	A	95183096	4	1	81	1	0	0	0	0	0	1	0	0	3124	922	32	4	1641	4	CDH17	8	95183096	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	248400	95183096	51180926	6862	10478											
CDH17	1015	broad.mit.edu	37	8	95189855	95189855	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:95189855C>T	ENST00000027335.3	-	4	369	c.245G>A	c.(244-246)aGa>aAa	p.R82K	CDH17_ENST00000441892.2_Missense_Mutation_p.R82K|CDH17_ENST00000450165.2_Missense_Mutation_p.R82K	NM_004063.3	NP_004054.3	Q12864	CAD17_HUMAN	cadherin 17, LI cadherin (liver-intestine)	82	Cadherin 1.					integral to membrane	calcium ion binding			NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			GTCCAAGGCTCTGTTGTAATA	0.463													41	52					0	0	1	0	0	T	95189855	C	T	95189855	3	4	81	1	0	0	0	0	1	0	0	0	3124	913	32	2	2313	2	CDH17	8	95189855	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	6759	95189855	51174167	6863	10479											
RAD54B	25788	broad.mit.edu	37	8	95412549	95412549	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:95412549G>A	ENST00000336148.5	-	7	1211	c.1087C>T	c.(1087-1089)Cct>Tct	p.P363S		NM_012415.3	NP_036547.1	O95073	FSBP_HUMAN	RAD54 homolog B (S. cerevisiae)	0					double-strand break repair via homologous recombination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA translocase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(10)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(36;4.5e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00217)			AAGCTTCCAGGTGTGACAATT	0.393								Direct reversal of damage;Homologous recombination					8	48					0	0	1	0	0	A	95412549	G	A	95412549	3	1	81	1	0	0	0	0	1	0	0	0	13044	1261	44	2	1681	2	RAD54B	8	95412549	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	222694	95412549	50951473	6864	10480											
RAD54B	25788	broad.mit.edu	37	8	95470649	95470649	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:95470649T>C	ENST00000336148.5	-	3	275	c.151A>G	c.(151-153)Aac>Gac	p.N51D	RAD54B_ENST00000297592.5_Missense_Mutation_p.N51D	NM_012415.3	NP_036547.1	O95073	FSBP_HUMAN	RAD54 homolog B (S. cerevisiae)	0					double-strand break repair via homologous recombination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA translocase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(10)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(36;4.5e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00217)			AGAAAGGTGTTATTAATTGCA	0.284								Direct reversal of damage;Homologous recombination					5	49					0	0	1	0	0	C	95470649	T	C	95470649	3	2	81	1	0	0	0	0	1	0	0	0	13044	1754	61	3	2633	3	RAD54B	8	95470649	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	58100	95470649	50893373	6865	10481											
KIAA1429	25962	broad.mit.edu	37	8	95522041	95522041	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:95522041C>A	ENST00000297591.5	-	15	3829	c.3754G>T	c.(3754-3756)Ggt>Tgt	p.G1252C	KIAA1429_ENST00000523405.1_5'UTR|KIAA1429_ENST00000437199.1_Missense_Mutation_p.G1252C	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	1252					mRNA processing|RNA splicing	nucleus				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			CTTTCATCACCTTTAATAGTT	0.403													4	44					0.00909568	0.00944708	1	1	0	A	95522041	C	A	95522041	3	1	81	1	0	0	0	0	1	0	0	0	8273	681	24	4	1724	4	KIAA1429	8	95522041	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	51392	95522041	50841981	6866	10482											
KIAA1429	25962	broad.mit.edu	37	8	95531688	95531688	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:95531688G>A	ENST00000297591.5	-	9	2113	c.2038C>T	c.(2038-2040)Cac>Tac	p.H680Y	KIAA1429_ENST00000421249.2_Missense_Mutation_p.H680Y|KIAA1429_ENST00000437199.1_Missense_Mutation_p.H680Y	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	680					mRNA processing|RNA splicing	nucleus				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			TCCAAGAAGTGATGACTGTGA	0.388													16	92					0	0	1	0	0	A	95531688	G	A	95531688	3	1	81	1	0	0	0	0	1	0	0	0	8273	1290	45	2	3518	2	KIAA1429	8	95531688	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	9647	95531688	50832334	6867	10483											
DPY19L4	286148	broad.mit.edu	37	8	95750652	95750652	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:95750652A>G	ENST00000414645.2	+	4	407	c.308A>G	c.(307-309)tAt>tGt	p.Y103C		NM_181787.2	NP_861452.2	Q7Z388	D19L4_HUMAN	dpy-19-like 4 (C. elegans)	103						integral to membrane				breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)	21	Breast(36;3.85e-06)					TACTCCTATTATAAAGATATG	0.249													4	70					0	0	1	0	0	G	95750652	A	G	95750652	3	3	81	1	0	0	0	0	1	0	0	0	4769	449	16	3	322	3	DPY19L4	8	95750652	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	218964	95750652	50613370	6868	10484											
INTS8	55656	broad.mit.edu	37	8	95877901	95877901	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:95877901G>A	ENST00000523731.1	+	17	2377	c.2244G>A	c.(2242-2244)acG>acA	p.T748T	INTS8_ENST00000447247.1_Silent_p.T748T|INTS8_ENST00000520845.1_Intron	NM_017864.2	NP_060334.2	Q75QN2	INT8_HUMAN	integrator complex subunit 8	748					snRNA processing	integrator complex	protein binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	28	Breast(36;1.05e-06)					GGGAATCTACGTTAGGTATCA	0.338													60	112					0	0	1	0	0	A	95877901	G	A	95877901	2	1	81	1	0	0	0	0	0	0	0	1	7828	1132	40	1		1	INTS8	8	95877901	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	127249	95877901	50486121	6869	10485											
TP53INP1	94241	broad.mit.edu	37	8	95953126	95953126	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:95953126G>A	ENST00000342697.4	-	2	451	c.44C>T	c.(43-45)tCt>tTt	p.S15F	TP53INP1_ENST00000378776.4_Missense_Mutation_p.S15F|TP53INP1_ENST00000448464.2_Missense_Mutation_p.S15F|NDUFAF6_ENST00000396113.1_Intron	NM_033285.3	NP_150601.1	Q96A56	T53I1_HUMAN	tumor protein p53 inducible nuclear protein 1	15	Poly-Ser.				apoptosis	PML body				kidney(2)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	9	Breast(36;8.75e-07)					GTTGGAGGAAGAACTGACTTC	0.393													4	86					0	0	1	0	0	A	95953126	G	A	95953126	3	1	81	1	0	0	0	0	1	0	0	0	16449	942	33	2	716	2	TP53INP1	8	95953126	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	75225	95953126	50410896	6870	10486											
PTDSS1	9791	broad.mit.edu	37	8	97345702	97345702	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:97345702C>T	ENST00000517309.1	+	13	1656	c.1330C>T	c.(1330-1332)Ccc>Tcc	p.P444S	PTDSS1_ENST00000455950.2_Missense_Mutation_p.P298S|PTDSS1_ENST00000522072.1_Missense_Mutation_p.P241S	NM_014754.1	NP_055569.1	P48651	PTSS1_HUMAN	phosphatidylserine synthase 1	444					phosphatidylserine biosynthetic process	integral to membrane	transferase activity			endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|stomach(1)	29	Breast(36;6.18e-05)				Phosphatidylserine(DB00144)	AGACAGCCCACCCAAGCATGC	0.527											OREG0018880	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	59	84					0	0	1	0	0	T	97345702	C	T	97345702	3	4	81	1	0	0	0	0	1	0	0	0	12785	507	18	2	1380	2	PTDSS1	8	97345702	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1392576	97345702	49018320	6871	10487											
TSPYL5	85453	broad.mit.edu	37	8	98289179	98289179	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:98289179G>A	ENST00000322128.3	-	1	997	c.894C>T	c.(892-894)ttC>ttT	p.F298F		NM_033512.2	NP_277047.2	Q86VY4	TSYL5_HUMAN	TSPY-like 5	298					cellular response to gamma radiation|nucleosome assembly|positive regulation of cell proliferation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|regulation of growth	nucleus	protein binding			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	20	Breast(36;2.56e-06)					GGTTGCGATCGAAGTAGAACT	0.478													4	44					0	0	1	0	0	A	98289179	G	A	98289179	2	1	81	1	0	0	0	0	0	0	0	1	16723	1049	37	1		1	TSPYL5	8	98289179	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	943477	98289179	48074843	6872	10488											
MTDH	92140	broad.mit.edu	37	8	98735147	98735147	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:98735147C>A	ENST00000336273.3	+	11	1890	c.1562C>A	c.(1561-1563)tCt>tAt	p.S521Y	MTDH_ENST00000519934.1_Missense_Mutation_p.S465Y	NM_178812.3	NP_848927.2	Q86UE4	LYRIC_HUMAN	metadherin	521					lipopolysaccharide-mediated signaling pathway|negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of angiogenesis|positive regulation of autophagy|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein kinase B signaling cascade	apical plasma membrane|endoplasmic reticulum membrane|integral to membrane|intercellular canaliculus|nuclear body|nuclear membrane|nucleolus|perinuclear region of cytoplasm|tight junction	NF-kappaB binding|RNA polymerase II transcription factor binding|transcription coactivator activity	p.S521F(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Breast(36;2.56e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.178)			ACCGAGCCATCTGTAATCTTA	0.353													11	97					0.00136819	0.00145431	1	1	0	A	98735147	C	A	98735147	3	1	81	1	0	0	0	0	1	0	0	0	9965	913	32	4	1604	4	MTDH	8	98735147	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	445968	98735147	47628875	6873	10489											
POP1	10940	broad.mit.edu	37	8	99168368	99168368	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:99168368G>A	ENST00000401707.2	+	15	2229	c.2148G>A	c.(2146-2148)gaG>gaA	p.E716E	POP1_ENST00000349693.3_Silent_p.E716E	NM_001145860.1|NM_001145861.1	NP_001139332.1|NP_001139333.1	Q99575	POP1_HUMAN	processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae)	716					tRNA 5'-leader removal|tRNA catabolic process	nucleolar ribonuclease P complex|ribonuclease MRP complex	identical protein binding|ribonuclease MRP activity|ribonuclease P activity			autonomic_ganglia(1)|breast(3)|endometrium(4)|large_intestine(9)|lung(15)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Breast(36;1.78e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.145)			AAGACTGGGAGTCAAGAGTCC	0.502													36	62					0	0	1	0	0	A	99168368	G	A	99168368	2	1	81	1	0	0	0	0	0	0	0	1	12299	1020	36	2		2	POP1	8	99168368	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	433221	99168368	47195654	6874	10490											
KCNS2	3788	broad.mit.edu	37	8	99440410	99440410	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:99440410A>G	ENST00000287042.4	+	2	553	c.203A>G	c.(202-204)gAg>gGg	p.E68G	KCNS2_ENST00000521839.1_Missense_Mutation_p.E68G	NM_020697.2	NP_065748.1	Q9ULS6	KCNS2_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 2	68						voltage-gated potassium channel complex	voltage-gated potassium channel activity			autonomic_ganglia(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	31	Breast(36;2.4e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.0448)			GTCCAGCGGGAGTTCTACTTC	0.607													29	46					0	0	1	0	0	G	99440410	A	G	99440410	3	3	81	1	0	0	0	0	1	0	0	0	8133	304	11	3	205	3	KCNS2	8	99440410	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	272042	99440410	46923612	6875	10491											
STK3	6788	broad.mit.edu	37	8	99718840	99718840	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:99718840G>A	ENST00000523601.1	-	8	1022	c.623C>T	c.(622-624)aCt>aTt	p.T208I	STK3_ENST00000419617.2_Missense_Mutation_p.T180I	NM_001256312.1	NP_001243241.1	Q13188	STK3_HUMAN	serine/threonine kinase 3	180	Protein kinase.				apoptosis|hippo signaling cascade|intracellular protein kinase cascade|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of apoptosis	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein dimerization activity|protein serine/threonine kinase activator activity|protein serine/threonine kinase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	17	Breast(36;2.4e-06)	Breast(495;0.106)	OV - Ovarian serous cystadenocarcinoma(57;0.0382)	KIRC - Kidney renal clear cell carcinoma(542;9.44e-06)		TCCTATTACAGTATTGCGTTT	0.378													7	98					0	0	1	0	0	A	99718840	G	A	99718840	3	1	81	1	0	0	0	0	1	0	0	0	15351	1029	36	2	960	2	STK3	8	99718840	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	278430	99718840	46645182	6876	10492											
VPS13B	157680	broad.mit.edu	37	8	100205171	100205171	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:100205171A>G	ENST00000395996.1	+	17	2512	c.2401A>G	c.(2401-2403)Aca>Gca	p.T801A	VPS13B_ENST00000521932.1_3'UTR|VPS13B_ENST00000357162.2_Missense_Mutation_p.T801A|VPS13B_ENST00000355155.1_Missense_Mutation_p.T801A|VPS13B_ENST00000358544.2_Missense_Mutation_p.T801A			Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	801					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			AATTCAAGCTACAAGAGCACA	0.373													6	83					0	0	1	0	0	G	100205171	A	G	100205171	3	3	81	1	0	0	0	0	1	0	0	0	17250	391	14	3	2505	3	VPS13B	8	100205171	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	486331	100205171	46158851	6877	10493											
VPS13B	157680	broad.mit.edu	37	8	100286531	100286531	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:100286531G>A	ENST00000395996.1	+	18	2732	c.2621G>A	c.(2620-2622)gGa>gAa	p.G874E	VPS13B_ENST00000357162.2_Missense_Mutation_p.G874E|VPS13B_ENST00000358544.2_Missense_Mutation_p.G874E			Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	874					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			GGGACCATGGGATCAATAAAA	0.448													23	63					0	0	1	0	0	A	100286531	G	A	100286531	3	1	81	1	0	0	0	0	1	0	0	0	17250	1174	41	2	2810	2	VPS13B	8	100286531	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	81360	100286531	46077491	6878	10494											
VPS13B	157680	broad.mit.edu	37	8	100396497	100396497	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:100396497G>A	ENST00000395996.1	+	20	2997	c.2886G>A	c.(2884-2886)acG>acA	p.T962T	VPS13B_ENST00000357162.2_Silent_p.T962T|VPS13B_ENST00000358544.2_Silent_p.T962T			Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	962					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TCTTATATACGTGGCTCATCT	0.313													10	99					0	0	1	0	0	A	100396497	G	A	100396497	2	1	81	1	0	0	0	0	0	0	0	1	17250	1132	40	1		1	VPS13B	8	100396497	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	109966	100396497	45967525	6879	10495											
VPS13B	157680	broad.mit.edu	37	8	100479713	100479713	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:100479713C>A	ENST00000395996.1	+	24	3628	c.3517C>A	c.(3517-3519)Ctt>Att	p.L1173I	VPS13B_ENST00000357162.2_Missense_Mutation_p.L1173I|VPS13B_ENST00000358544.2_Missense_Mutation_p.L1173I			Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	1173					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			ACAAGTGACACTTTGCCTAGT	0.443													63	152					7.05995e-25	9.33088e-25	1	1	0	A	100479713	C	A	100479713	3	1	81	1	0	0	0	0	1	0	0	0	17250	565	20	4	3730	4	VPS13B	8	100479713	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	83216	100479713	45884309	6880	10496											
VPS13B	157680	broad.mit.edu	37	8	100493863	100493863	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:100493863A>G	ENST00000395996.1	+	25	3814	c.3703A>G	c.(3703-3705)Aag>Gag	p.K1235E	VPS13B_ENST00000357162.2_Missense_Mutation_p.K1235E|VPS13B_ENST00000358544.2_Missense_Mutation_p.K1235E			Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	1235					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TATCATGAATAAGGTCTGGAA	0.413													25	173					0	0	1	0	0	G	100493863	A	G	100493863	3	3	81	1	0	0	0	0	1	0	0	0	17250	363	13	3	3920	3	VPS13B	8	100493863	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	14150	100493863	45870159	6881	10497											
VPS13B	157680	broad.mit.edu	37	8	100493974	100493974	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:100493974G>A	ENST00000395996.1	+	25	3925	c.3814G>A	c.(3814-3816)Gct>Act	p.A1272T	VPS13B_ENST00000357162.2_Missense_Mutation_p.A1272T|VPS13B_ENST00000358544.2_Missense_Mutation_p.A1272T			Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	1272					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TATAGGCACAGCTCCTCCAGA	0.453													28	43					0	0	1	0	0	A	100493974	G	A	100493974	3	1	81	1	0	0	0	0	1	0	0	0	17250	971	34	2	4031	2	VPS13B	8	100493974	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	111	100493974	45870048	6882	10498											
VPS13B	157680	broad.mit.edu	37	8	100523657	100523657	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:100523657G>A	ENST00000358544.2	+	29	4736	c.4625G>A	c.(4624-4626)cGc>cAc	p.R1542H	VPS13B_ENST00000357162.2_Missense_Mutation_p.R1517H|VPS13B_ENST00000395996.1_3'UTR	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	1542					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			CTGACATCCCGCAATTTACCT	0.368													19	17					0	0	1	0	0	A	100523657	G	A	100523657	3	1	81	1	0	0	0	0	1	0	0	0	17250	1087	38	1	4929	1	VPS13B	8	100523657	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	29683	100523657	45840365	6883	10499											
VPS13B	157680	broad.mit.edu	37	8	100711875	100711875	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:100711875A>G	ENST00000358544.2	+	36	6355	c.6244A>G	c.(6244-6246)Act>Gct	p.T2082A	VPS13B_ENST00000357162.2_Missense_Mutation_p.T2057A|VPS13B_ENST00000395996.1_3'UTR	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	2082					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TAGTGAAGAGACTTCAGCCAT	0.383													22	52					0	0	1	0	0	G	100711875	A	G	100711875	3	3	81	1	0	0	0	0	1	0	0	0	17250	275	10	3	6576	3	VPS13B	8	100711875	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	188218	100711875	45652147	6884	10500											
VPS13B	157680	broad.mit.edu	37	8	100830943	100830943	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:100830943T>C	ENST00000358544.2	+	47	8634	c.8523T>C	c.(8521-8523)atT>atC	p.I2841I	VPS13B_ENST00000357162.2_Silent_p.I2816I|VPS13B_ENST00000395996.1_3'UTR	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	2841					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TTTTATAGATTGTGTTCAGCC	0.353													17	186					0	0	1	0	0	C	100830943	T	C	100830943	2	2	81	1	0	0	0	0	0	0	0	1	17250	1800	63	3		3	VPS13B	8	100830943	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	119068	100830943	45533079	6885	10501											
VPS13B	157680	broad.mit.edu	37	8	100866174	100866174	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:100866174G>A	ENST00000358544.2	+	56	10743	c.10632G>A	c.(10630-10632)ttG>ttA	p.L3544L	VPS13B_ENST00000357162.2_Silent_p.L3519L|VPS13B_ENST00000395996.1_3'UTR	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	3544					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TCAAGACTTTGTTTGACACCT	0.478													36	63					0	0	1	0	0	A	100866174	G	A	100866174	2	1	81	1	0	0	0	0	0	0	0	1	17250	1368	48	2		2	VPS13B	8	100866174	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	35231	100866174	45497848	6886	10502											
RGS22	26166	broad.mit.edu	37	8	101018281	101018281	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:101018281C>A	ENST00000360863.6	-	16	2612	c.2418G>T	c.(2416-2418)caG>caT	p.Q806H	RGS22_ENST00000519421.1_5'UTR|RGS22_ENST00000523437.1_Missense_Mutation_p.Q794H|RGS22_ENST00000523287.1_Missense_Mutation_p.Q625H	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	806					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity		RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			TATGCAAAGCCTGTAGCTTTC	0.368													5	51					0.014758	0.0152304	1	1	0	A	101018281	C	A	101018281	3	1	81	1	0	0	0	0	1	0	0	0	13355	680	24	4	1424	4	RGS22	8	101018281	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	152107	101018281	45345741	6887	10503											
RGS22	26166	broad.mit.edu	37	8	101076146	101076146	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:101076146C>T	ENST00000360863.6	-	8	1044	c.850G>A	c.(850-852)Gac>Aac	p.D284N	RGS22_ENST00000523437.1_Missense_Mutation_p.D272N|RGS22_ENST00000523287.1_Missense_Mutation_p.D103N	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	284					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity		RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			GAAGGAGTGTCTTGTAGAGAT	0.373													77	97					0	0	1	0	0	T	101076146	C	T	101076146	3	4	81	1	0	0	0	0	1	0	0	0	13355	913	32	2	3024	2	RGS22	8	101076146	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	57865	101076146	45287876	6888	10504											
FBXO43	286151	broad.mit.edu	37	8	101153118	101153118	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:101153118C>A	ENST00000428847.2	-	2	1680	c.1364G>T	c.(1363-1365)aGg>aTg	p.R455M		NM_001029860.3	NP_001025031.2	Q4G163	FBX43_HUMAN	F-box protein 43	455					meiosis		zinc ion binding			endometrium(1)|kidney(4)|large_intestine(5)|lung(14)|prostate(1)|skin(5)|urinary_tract(1)	31	all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798)		Epithelial(11;1.17e-09)|all cancers(13;1.34e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957)			TAATCTTTTCCTCTTGCTTTT	0.423													10	172					0.000978159	0.00104673	1	1	0	A	101153118	C	A	101153118	3	1	81	1	0	0	0	0	1	0	0	0	5785	681	24	4	778	4	FBXO43	8	101153118	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	76972	101153118	45210904	6889	10505											
FBXO43	286151	broad.mit.edu	37	8	101153262	101153262	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:101153262G>T	ENST00000428847.2	-	2	1536	c.1220C>A	c.(1219-1221)tCt>tAt	p.S407Y		NM_001029860.3	NP_001025031.2	Q4G163	FBX43_HUMAN	F-box protein 43	407					meiosis		zinc ion binding			endometrium(1)|kidney(4)|large_intestine(5)|lung(14)|prostate(1)|skin(5)|urinary_tract(1)	31	all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798)		Epithelial(11;1.17e-09)|all cancers(13;1.34e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957)			TCTTTTTTCAGAGTCAGGGTG	0.473													47	60					3.10996e-30	4.14692e-30	1	1	0	T	101153262	G	T	101153262	3	4	81	1	0	0	0	0	1	0	0	0	5785	942	33	4	922	4	FBXO43	8	101153262	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	144	101153262	45210760	6890	10506											
RNF19A	25897	broad.mit.edu	37	8	101299988	101299988	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:101299988G>C	ENST00000519449.1	-	3	731	c.415C>G	c.(415-417)Cat>Gat	p.H139D	RNF19A_ENST00000341084.2_Missense_Mutation_p.H139D	NM_001280539.1|NM_015435.3	NP_001267468.1|NP_056250.3	Q9NV58	RN19A_HUMAN	ring finger protein 19A, RBR E3 ubiquitin protein ligase	139					microtubule cytoskeleton organization|protein modification process	centrosome|integral to membrane	ligase activity|transcription factor binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	30	all_cancers(14;3.5e-05)|all_epithelial(15;8.91e-08)|Lung NSC(17;0.000615)|all_lung(17;0.00166)		Epithelial(11;3.06e-11)|all cancers(13;5.78e-09)|OV - Ovarian serous cystadenocarcinoma(57;2.24e-05)|STAD - Stomach adenocarcinoma(118;0.0525)			TCTTTAGAATGCCGCAAAAGG	0.378													35	99					0	0	1	0	0	C	101299988	G	C	101299988	3	2	81	1	0	0	0	0	1	0	0	0	13522	1319	46	5	2137	5	RNF19A	8	101299988	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	146726	101299988	45064034	6891	10507											
ANKRD46	157567	broad.mit.edu	37	8	101541754	101541754	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:101541754A>C	ENST00000520311.1	-	3	1111	c.308T>G	c.(307-309)aTt>aGt	p.I103S	ANKRD46_ENST00000520552.1_Missense_Mutation_p.I103S|ANKRD46_ENST00000519316.1_Missense_Mutation_p.I103S|ANKRD46_ENST00000519597.1_Missense_Mutation_p.I103S|ANKRD46_ENST00000335659.3_Missense_Mutation_p.I103S	NM_001270378.1	NP_001257307.1	Q86W74	ANR46_HUMAN	ankyrin repeat domain 46	103						integral to membrane				kidney(1)|large_intestine(2)|lung(4)	7	all_cancers(14;5.07e-05)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000353)|all_lung(17;0.000998)		Epithelial(11;2.61e-11)|all cancers(13;5.03e-09)|OV - Ovarian serous cystadenocarcinoma(57;4.49e-06)|STAD - Stomach adenocarcinoma(118;0.0957)			AACTTACCAAATATCAATTTT	0.373													4	54					0	0	1	0	0	C	101541754	A	C	101541754	3	2	81	1	0	0	0	0	1	0	0	0	668	101	4	4	390	4	ANKRD46	8	101541754	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	241766	101541754	44822268	6892	10508											
SNX31	169166	broad.mit.edu	37	8	101642602	101642602	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:101642602C>T	ENST00000311812.2	-	4	424	c.274G>A	c.(274-276)Gtg>Atg	p.V92M		NM_152628.3	NP_689841.3	Q8N9S9	SNX31_HUMAN	sorting nexin 31	92	PX.				cell communication|protein transport		phosphatidylinositol binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|skin(3)|urinary_tract(1)	26	all_cancers(14;4.01e-05)|all_epithelial(15;1.26e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;1.21e-11)|all cancers(13;2.62e-09)|OV - Ovarian serous cystadenocarcinoma(57;3.22e-06)|STAD - Stomach adenocarcinoma(118;0.206)			CTTCTCAACACGTTTGGGTCC	0.493													7	12					0	0	1	0	0	T	101642602	C	T	101642602	3	4	81	1	0	0	0	0	1	0	0	0	14955	536	19	1	1092	1	SNX31	8	101642602	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	100848	101642602	44721420	6893	10509											
PABPC1	26986	broad.mit.edu	37	8	101724636	101724636	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:101724636C>T	ENST00000318607.5	-	7	2054	c.926G>A	c.(925-927)cGt>cAt	p.R309H	PABPC1_ENST00000519004.1_Missense_Mutation_p.R264H|PABPC1_ENST00000519596.1_5'UTR|PABPC1_ENST00000522387.1_Missense_Mutation_p.R277H	NM_002568.3	NP_002559.2	P11940	PABP1_HUMAN	poly(A) binding protein, cytoplasmic 1	309	RRM 4.				mRNA polyadenylation|mRNA stabilization|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|translation	catalytic step 2 spliceosome|cytosol	nucleotide binding|poly(A) RNA binding|protein C-terminus binding|translation activator activity			breast(2)|endometrium(4)|kidney(15)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	40	all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206)			TTTCCGGAGACGTTCATCATC	0.318													86	162					0	0	1	0	0	T	101724636	C	T	101724636	3	4	81	1	0	0	0	0	1	0	0	0	11410	536	19	1	1016	1	PABPC1	8	101724636	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	82034	101724636	44639386	6894	10510											
PABPC1	26986	broad.mit.edu	37	8	101724669	101724669	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:101724669A>G	ENST00000318607.5	-	7	2021	c.893T>C	c.(892-894)gTg>gCg	p.V298A	PABPC1_ENST00000519004.1_Missense_Mutation_p.V253A|PABPC1_ENST00000519596.1_5'UTR|PABPC1_ENST00000522387.1_Missense_Mutation_p.V266A	NM_002568.3	NP_002559.2	P11940	PABP1_HUMAN	poly(A) binding protein, cytoplasmic 1	298	RRM 4.				mRNA polyadenylation|mRNA stabilization|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|translation	catalytic step 2 spliceosome|cytosol	nucleotide binding|poly(A) RNA binding|protein C-terminus binding|translation activator activity			breast(2)|endometrium(4)|kidney(15)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	40	all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206)			AAGATTTTTCACATAAAGATT	0.333													5	174					0	0	1	0	0	G	101724669	A	G	101724669	3	3	81	1	0	0	0	0	1	0	0	0	11410	159	6	3	1049	3	PABPC1	8	101724669	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	33	101724669	44639353	6895	10511											
YWHAZ	7534	broad.mit.edu	37	8	101936203	101936203	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:101936203A>C	ENST00000395957.2	-	6	999	c.658T>G	c.(658-660)Tta>Gta	p.L220V	YWHAZ_ENST00000457309.1_Missense_Mutation_p.L220V|YWHAZ_ENST00000522819.1_Missense_Mutation_p.L100V|YWHAZ_ENST00000353245.3_Missense_Mutation_p.L220V|YWHAZ_ENST00000395951.3_Missense_Mutation_p.L220V|YWHAZ_ENST00000419477.2_Missense_Mutation_p.L220V|YWHAZ_ENST00000522542.1_Missense_Mutation_p.L145V|YWHAZ_ENST00000395953.2_Missense_Mutation_p.L220V|YWHAZ_ENST00000395948.2_Missense_Mutation_p.L143V|YWHAZ_ENST00000395956.3_Missense_Mutation_p.L220V|YWHAZ_ENST00000521309.1_Missense_Mutation_p.L100V|YWHAZ_ENST00000395958.2_Missense_Mutation_p.L220V			P63104	1433Z_HUMAN	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta polypeptide	220					anti-apoptosis|mRNA metabolic process|platelet activation|signal transduction	cytosol|melanosome	transcription factor binding			large_intestine(1)|lung(2)	3	all_cancers(14;7.43e-06)|all_epithelial(15;2.77e-08)|Lung NSC(17;6.08e-05)|all_lung(17;0.000197)		Epithelial(11;2.79e-11)|all cancers(13;5.45e-09)|OV - Ovarian serous cystadenocarcinoma(57;4.75e-05)		Ginkgo biloba(DB01381)	TCTCTCAGTAATTGCATTATT	0.323													57	74					0	0	1	0	0	C	101936203	A	C	101936203	3	2	81	1	0	0	0	0	1	0	0	0	17566	98	4	4	87	4	YWHAZ	8	101936203	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	211534	101936203	44427819	6896	10512											
GRHL2	79977	broad.mit.edu	37	8	102631870	102631870	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:102631870G>A	ENST00000251808.3	+	9	1540	c.1202G>A	c.(1201-1203)cGt>cAt	p.R401H	GRHL2_ENST00000395927.1_Missense_Mutation_p.R385H	NM_024915.3	NP_079191.2	Q6ISB3	GRHL2_HUMAN	grainyhead-like 2 (Drosophila)	401						cytoplasm|nucleus	DNA binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05)		Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213)			TATAACAATCGTAGCAATAAA	0.363													31	58					0	0	1	0	0	A	102631870	G	A	102631870	3	1	81	1	0	0	0	0	1	0	0	0	6805	1145	40	1	1236	1	GRHL2	8	102631870	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	695667	102631870	43732152	6897	10513											
GRHL2	79977	broad.mit.edu	37	8	102661726	102661726	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:102661726C>A	ENST00000251808.3	+	14	2035	c.1697C>A	c.(1696-1698)gCg>gAg	p.A566E	GRHL2_ENST00000395927.1_Splice_Site_p.A550E|GRHL2_ENST00000517674.1_Intron	NM_024915.3	NP_079191.2	Q6ISB3	GRHL2_HUMAN	grainyhead-like 2 (Drosophila)	566						cytoplasm|nucleus	DNA binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05)		Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213)			CTGATGGAAGCGGTAAGCCAT	0.507													10	16					2.17888e-05	2.43576e-05	1	1	0	A	102661726	C	A	102661726	5	1	81	1	0	0	0	0	0	0	1	0	6805	782	27	5	1751	5	GRHL2	8	102661726	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	29856	102661726	43702296	6898	10514											
UBR5	51366	broad.mit.edu	37	8	103266626	103266626	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:103266626G>A	ENST00000520539.1	-	59	8910	c.8304C>T	c.(8302-8304)tgC>tgT	p.C2768C	UBR5_ENST00000521922.1_Silent_p.C2761C|UBR5_ENST00000518205.1_Silent_p.C496C|UBR5_ENST00000220959.4_Silent_p.C2767C	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	2768	HECT.				cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			GTCGAGAAATGCAAGTATTTG	0.423													21	33					0	0	1	0	0	A	103266626	G	A	103266626	2	1	81	1	0	0	0	0	0	0	0	1	16966	1311	46	2		2	UBR5	8	103266626	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	604900	103266626	43097396	6899	10515											
UBR5	51366	broad.mit.edu	37	8	103288036	103288036	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:103288036C>T	ENST00000520539.1	-	46	7136	c.6530G>A	c.(6529-6531)gGa>gAa	p.G2177E	UBR5_ENST00000220959.4_Missense_Mutation_p.G2177E|UBR5_ENST00000521922.1_Missense_Mutation_p.G2171E	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	2177					cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			AATAACCATTCCCATAAAGCT	0.443													12	32					0	0	1	0	0	T	103288036	C	T	103288036	3	4	81	1	0	0	0	0	1	0	0	0	16966	855	30	2	1925	2	UBR5	8	103288036	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	21410	103288036	43075986	6900	10516											
UBR5	51366	broad.mit.edu	37	8	103312275	103312275	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:103312275G>T	ENST00000520539.1	-	23	3665	c.3059C>A	c.(3058-3060)cCc>cAc	p.P1020H	UBR5_ENST00000220959.4_Missense_Mutation_p.P1020H|UBR5_ENST00000521922.1_Missense_Mutation_p.P1014H	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	1020					cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			GGGAGCTATGGGGGGTGAAAC	0.478													9	117					3.86212e-05	4.27865e-05	1	1	0	T	103312275	G	T	103312275	3	4	81	1	0	0	0	0	1	0	0	0	16966	1232	43	5	5488	5	UBR5	8	103312275	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	24239	103312275	43051747	6901	10517											
UBR5	51366	broad.mit.edu	37	8	103312351	103312351	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:103312351A>G	ENST00000520539.1	-	23	3589	c.2983T>C	c.(2983-2985)Tcg>Ccg	p.S995P	UBR5_ENST00000220959.4_Missense_Mutation_p.S995P|UBR5_ENST00000521922.1_Missense_Mutation_p.S989P	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	995					cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			GCTCTCAACGAACGTCTCATC	0.463													14	107					0	0	1	0	0	G	103312351	A	G	103312351	3	3	81	1	0	0	0	0	1	0	0	0	16966	246	9	3	5564	3	UBR5	8	103312351	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	76	103312351	43051671	6902	10518											
UBR5	51366	broad.mit.edu	37	8	103327066	103327066	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:103327066C>A	ENST00000520539.1	-	15	2406	c.1800G>T	c.(1798-1800)caG>caT	p.Q600H	UBR5_ENST00000220959.4_Missense_Mutation_p.Q600H|UBR5_ENST00000521922.1_Missense_Mutation_p.Q594H	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	600					cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			TCACTGGCTCCTGCTTACTTT	0.373													16	15					9.16793e-09	1.09544e-08	1	1	0	A	103327066	C	A	103327066	3	1	81	1	0	0	0	0	1	0	0	0	16966	680	24	4	6779	4	UBR5	8	103327066	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	14715	103327066	43036956	6903	10519											
UBR5	51366	broad.mit.edu	37	8	103341316	103341316	+	Splice_Site	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:103341316A>G	ENST00000520539.1	-	11	1933		c.e11+1		UBR5_ENST00000220959.4_Splice_Site|UBR5_ENST00000521922.1_Splice_Site	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5						cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			AGTGTTTCATACCTTGTTATT	0.323													51	81					0	0	1	0	0	G	103341316	A	G	103341316	5	3	81	1	0	0	0	0	0	0	1	0	16966	405	14	3	7267	3	UBR5	8	103341316	Splice_Site	SNP	A	TCGA-DU-6392-01A-11D-1705-08	14250	103341316	43022706	6904	10520											
UBR5	51366	broad.mit.edu	37	8	103354859	103354859	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:103354859C>T	ENST00000520539.1	-	9	1546	c.940G>A	c.(940-942)Gtt>Att	p.V314I	UBR5_ENST00000220959.4_Missense_Mutation_p.V314I|UBR5_ENST00000521922.1_Missense_Mutation_p.V308I	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	314					cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			AAACGTAAAACGGATTCACGT	0.458													29	64					0	0	1	0	0	T	103354859	C	T	103354859	3	4	81	1	0	0	0	0	1	0	0	0	16966	536	19	1	7663	1	UBR5	8	103354859	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	13543	103354859	43009163	6905	10521											
FZD6	8323	broad.mit.edu	37	8	104342067	104342067	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:104342067A>G	ENST00000358755.4	+	6	2043	c.1726A>G	c.(1726-1728)Act>Gct	p.T576A	FZD6_ENST00000523739.1_Missense_Mutation_p.T544A|FZD6_ENST00000540287.1_Missense_Mutation_p.T271A|FZD6_ENST00000522566.1_Missense_Mutation_p.T576A	NM_001164616.1|NM_003506.3	NP_001158088.1|NP_003497.2	O60353	FZD6_HUMAN	frizzled family receptor 6	576					angiogenesis|axonogenesis|cell proliferation in midbrain|establishment of planar polarity|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|inner ear morphogenesis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|neural tube closure|non-canonical Wnt receptor signaling pathway	apical part of cell|apicolateral plasma membrane|cytoplasm|integral to plasma membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	24			OV - Ovarian serous cystadenocarcinoma(57;2.86e-05)|STAD - Stomach adenocarcinoma(118;0.197)			AGTAGCAATTACTAGCCATGA	0.463													4	31					0	0	1	0	0	G	104342067	A	G	104342067	3	3	81	1	0	0	0	0	1	0	0	0	6169	391	14	3	1744	3	FZD6	8	104342067	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	987208	104342067	42021955	6906	10522											
DCAF13	25879	broad.mit.edu	37	8	104453788	104453788	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:104453788A>C	ENST00000297579.5	+	10	1925	c.1648A>C	c.(1648-1650)Aaa>Caa	p.K550Q		NM_015420.6	NP_056235.4	Q9NV06	DCA13_HUMAN	DDB1 and CUL4 associated factor 13	398					rRNA processing	CUL4 RING ubiquitin ligase complex|nucleolus|ribonucleoprotein complex				NS(1)|breast(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						ACATCTACCAAAATCTATCTA	0.383													10	126					0	0	1	0	0	C	104453788	A	C	104453788	3	2	81	1	0	0	0	0	1	0	0	0	4290	15	1	5	1686	5	DCAF13	8	104453788	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	111721	104453788	41910234	6907	10523											
RIMS2	9699	broad.mit.edu	37	8	104897549	104897549	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:104897549G>T	ENST00000507740.1	+	2	382	c.146G>T	c.(145-147)aGa>aTa	p.R49I	RIMS2_ENST00000406091.3_Missense_Mutation_p.R241I|RIMS2_ENST00000436393.2_Missense_Mutation_p.R19I|RIMS2_ENST00000522174.1_3'UTR|RIMS2_ENST00000262231.10_Missense_Mutation_p.R49I	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	272	RabBD.				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			TCTGTGTCCAGAGATCAGAAT	0.388										HNSCC(12;0.0054)			11	23					2.68362e-12	3.3506e-12	1	1	0	T	104897549	G	T	104897549	3	4	81	1	0	0	0	0	1	0	0	0	13420	942	33	4	862	4	RIMS2	8	104897549	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	443761	104897549	41466473	6908	10524											
RIMS2	9699	broad.mit.edu	37	8	104955039	104955039	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:104955039G>A	ENST00000507740.1	+	11	2198	c.1962G>A	c.(1960-1962)gaG>gaA	p.E654E	RIMS2_ENST00000406091.3_Silent_p.E862E|RIMS2_ENST00000436393.2_Silent_p.E640E|RIMS2_ENST00000262231.10_Silent_p.E701E	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	924					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			TAGATGATGAGCCACATTGGT	0.378										HNSCC(12;0.0054)			16	29					0	0	1	0	0	A	104955039	G	A	104955039	2	1	81	1	0	0	0	0	0	0	0	1	13420	962	34	2		2	RIMS2	8	104955039	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	57490	104955039	41408983	6909	10525											
RIMS2	9699	broad.mit.edu	37	8	105257185	105257185	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:105257185A>G	ENST00000507740.1	+	18	3054	c.2818A>G	c.(2818-2820)Aca>Gca	p.T940A	RIMS2_ENST00000339750.2_Missense_Mutation_p.T62A|RIMS2_ENST00000406091.3_Missense_Mutation_p.T1126A|RIMS2_ENST00000436393.2_Missense_Mutation_p.T1144A|RIMS2_ENST00000262231.10_Missense_Mutation_p.T965A	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1188					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			CCAAAGAAGTACAGAAACAGG	0.438										HNSCC(12;0.0054)			50	66					0	0	1	0	0	G	105257185	A	G	105257185	3	3	81	1	0	0	0	0	1	0	0	0	13420	391	14	3	3650	3	RIMS2	8	105257185	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	302146	105257185	41106837	6910	10526											
LRP12	29967	broad.mit.edu	37	8	105503269	105503269	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:105503269G>A	ENST00000276654.5	-	7	2320	c.2212C>T	c.(2212-2214)Cgc>Tgc	p.R738C	LRP12_ENST00000424843.2_Missense_Mutation_p.R719C|LRP12_ENST00000518375.1_5'UTR	NM_013437.4	NP_038465.1	Q9Y561	LRP12_HUMAN	low density lipoprotein receptor-related protein 12	738					endocytosis|regulation of growth	coated pit|integral to plasma membrane	low-density lipoprotein receptor activity|protein binding			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			CGTACCCAGCGTAGCCCCTGA	0.478													21	46					0	0	1	0	0	A	105503269	G	A	105503269	3	1	81	1	0	0	0	0	1	0	0	0	8999	1145	40	1	371	1	LRP12	8	105503269	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	246084	105503269	40860753	6911	10527											
ZFPM2	23414	broad.mit.edu	37	8	106814684	106814684	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:106814684C>T	ENST00000407775.2	+	8	2624	c.2374C>T	c.(2374-2376)Cca>Tca	p.P792S	ZFPM2_ENST00000517361.1_Missense_Mutation_p.P660S|ZFPM2_ENST00000520492.1_Missense_Mutation_p.P660S|RP11-152P17.2_ENST00000521622.1_RNA|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000509144.2_RNA|ZFPM2_ENST00000378472.4_Missense_Mutation_p.P523S|RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000524045.2_RNA|RP11-152P17.2_ENST00000520594.1_RNA|RP11-152P17.2_ENST00000518932.1_RNA	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	792					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			TGATATCTTTCCAGGAATTGT	0.438													9	13					0	0	1	0	0	T	106814684	C	T	106814684	3	4	81	1	0	0	0	0	1	0	0	0	17716	855	30	2	2404	2	ZFPM2	8	106814684	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1311415	106814684	39549338	6912	10528											
OXR1	55074	broad.mit.edu	37	8	107715311	107715311	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:107715311T>G	ENST00000445937.1	+	8	1114	c.853T>G	c.(853-855)Tta>Gta	p.L285V	OXR1_ENST00000517566.2_Missense_Mutation_p.L285V|OXR1_ENST00000442977.2_Missense_Mutation_p.L286V|OXR1_ENST00000497705.1_Missense_Mutation_p.L218V|OXR1_ENST00000531443.1_Missense_Mutation_p.L285V|OXR1_ENST00000452423.2_5'UTR|OXR1_ENST00000312046.6_Missense_Mutation_p.L278V	NM_018002.3	NP_060472.2	Q8N573	OXR1_HUMAN	oxidation resistance 1	286					cell wall macromolecule catabolic process|response to oxidative stress	mitochondrion				NS(2)|breast(2)|endometrium(2)|large_intestine(9)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31			OV - Ovarian serous cystadenocarcinoma(57;1.81e-09)			AAAGGAATCTTTACCCATGTA	0.333													33	33					0	0	1	0	0	G	107715311	T	G	107715311	3	3	81	1	0	0	0	0	1	0	0	0	11381	1838	64	5	1082	5	OXR1	8	107715311	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	900627	107715311	38648711	6913	10529											
OXR1	55074	broad.mit.edu	37	8	107722882	107722882	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:107722882C>T	ENST00000445937.1	+	10	1918	c.1657C>T	c.(1657-1659)Cga>Tga	p.R553*	OXR1_ENST00000517566.2_Nonsense_Mutation_p.R553*|OXR1_ENST00000442977.2_Nonsense_Mutation_p.R554*|OXR1_ENST00000531443.1_Nonsense_Mutation_p.R553*|OXR1_ENST00000452423.2_Nonsense_Mutation_p.R43*|OXR1_ENST00000312046.6_Nonsense_Mutation_p.R546*	NM_018002.3	NP_060472.2	Q8N573	OXR1_HUMAN	oxidation resistance 1	554					cell wall macromolecule catabolic process|response to oxidative stress	mitochondrion				NS(2)|breast(2)|endometrium(2)|large_intestine(9)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31			OV - Ovarian serous cystadenocarcinoma(57;1.81e-09)			GCAAAGGCATCGATTACATAA	0.358													6	49					0	0	1	0	0	T	107722882	C	T	107722882	4	4	81	1	0	0	0	0	0	1	0	0	11381	876	31	1	1894	1	OXR1	8	107722882	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	7571	107722882	38641140	6914	10530											
OXR1	55074	broad.mit.edu	37	8	107763107	107763107	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:107763107C>T	ENST00000445937.1	+	16	2740	c.2479C>T	c.(2479-2481)Cgt>Tgt	p.R827C	OXR1_ENST00000449762.2_Missense_Mutation_p.R197C|OXR1_ENST00000517566.2_Missense_Mutation_p.R854C|OXR1_ENST00000297447.6_Missense_Mutation_p.R224C|OXR1_ENST00000442977.2_Missense_Mutation_p.R855C|OXR1_ENST00000531443.1_Missense_Mutation_p.R827C|OXR1_ENST00000521592.1_Missense_Mutation_p.R100C|OXR1_ENST00000452423.2_Missense_Mutation_p.R275C|OXR1_ENST00000312046.6_Missense_Mutation_p.R820C	NM_018002.3	NP_060472.2	Q8N573	OXR1_HUMAN	oxidation resistance 1	855	TLD.				cell wall macromolecule catabolic process|response to oxidative stress	mitochondrion				NS(2)|breast(2)|endometrium(2)|large_intestine(9)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31			OV - Ovarian serous cystadenocarcinoma(57;1.81e-09)			GTTTGGGAATCGTACACTTTC	0.363													27	60					0	0	1	0	0	T	107763107	C	T	107763107	3	4	81	1	0	0	0	0	1	0	0	0	11381	884	31	1	2740	1	OXR1	8	107763107	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	40225	107763107	38600915	6915	10531											
ABRA	137735	broad.mit.edu	37	8	107781845	107781845	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:107781845C>A	ENST00000311955.3	-	1	628	c.574G>T	c.(574-576)Gag>Tag	p.E192*		NM_139166.4	NP_631905.1	Q8N0Z2	ABRA_HUMAN	actin-binding Rho activating protein	192					positive regulation of Rho protein signal transduction|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent|transmembrane transport	actin cytoskeleton|plasma membrane|sarcomere	actin binding			breast(1)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)	27			OV - Ovarian serous cystadenocarcinoma(57;3.83e-09)			CCGCTGTCCTCTGTGTCTACG	0.602													85	136					8.45761e-33	1.13018e-32	1	1	0	A	107781845	C	A	107781845	4	1	81	1	0	0	0	0	0	1	0	0	100	922	32	4	579	4	ABRA	8	107781845	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	18738	107781845	38582177	6916	10532											
ANGPT1	284	broad.mit.edu	37	8	108296915	108296915	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:108296915G>T	ENST00000520734.1	-	6	885	c.600C>A	c.(598-600)aaC>aaA	p.N200K	ANGPT1_ENST00000518386.1_Intron|ANGPT1_ENST00000520052.1_Missense_Mutation_p.N199K			Q15389	ANGP1_HUMAN	angiopoietin 1	400					activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|blood coagulation|cell differentiation|heparin biosynthetic process|leukocyte migration|negative regulation of cell adhesion|negative regulation of endothelial cell apoptosis|negative regulation of vascular permeability|positive chemotaxis|positive regulation of blood vessel endothelial cell migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|positive regulation of receptor internalization|protein localization at cell surface|regulation of satellite cell proliferation|sprouting angiogenesis|Tie receptor signaling pathway	extracellular space|membrane raft|microvillus|plasma membrane	receptor tyrosine kinase binding			NS(1)|breast(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(13)|ovary(4)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	43	Breast(1;5.06e-08)		OV - Ovarian serous cystadenocarcinoma(57;5.53e-09)			CTTACCTATAGTTTTGCTTTT	0.378													25	39					9.86323e-18	1.27458e-17	1	1	0	T	108296915	G	T	108296915	3	4	81	1	0	0	0	0	1	0	0	0	606	1020	36	4	308	4	ANGPT1	8	108296915	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	515070	108296915	38067107	6917	10533											
ANGPT1	284	broad.mit.edu	37	8	108296941	108296941	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:108296941A>C	ENST00000520734.1	-	6	859	c.574T>G	c.(574-576)Ttc>Gtc	p.F192V	ANGPT1_ENST00000518386.1_Intron|ANGPT1_ENST00000520052.1_Missense_Mutation_p.F191V			Q15389	ANGP1_HUMAN	angiopoietin 1	392					activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|blood coagulation|cell differentiation|heparin biosynthetic process|leukocyte migration|negative regulation of cell adhesion|negative regulation of endothelial cell apoptosis|negative regulation of vascular permeability|positive chemotaxis|positive regulation of blood vessel endothelial cell migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|positive regulation of receptor internalization|protein localization at cell surface|regulation of satellite cell proliferation|sprouting angiogenesis|Tie receptor signaling pathway	extracellular space|membrane raft|microvillus|plasma membrane	receptor tyrosine kinase binding			NS(1)|breast(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(13)|ovary(4)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	43	Breast(1;5.06e-08)		OV - Ovarian serous cystadenocarcinoma(57;5.53e-09)			CCTATGTGGAATCTGTCATAC	0.388													13	55					0	0	1	0	0	C	108296941	A	C	108296941	3	2	81	1	0	0	0	0	1	0	0	0	606	101	4	4	334	4	ANGPT1	8	108296941	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	26	108296941	38067081	6918	10534											
RSPO2	340419	broad.mit.edu	37	8	108913404	108913404	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:108913404T>G	ENST00000276659.5	-	6	1251	c.631A>C	c.(631-633)Aag>Cag	p.K211Q	RSPO2_ENST00000378439.2_Missense_Mutation_p.K147Q|RSPO2_ENST00000517781.1_Missense_Mutation_p.K147Q|RSPO2_ENST00000517939.1_Missense_Mutation_p.K144Q	NM_178565.4	NP_848660.3	Q6UXX9	RSPO2_HUMAN	R-spondin 2	211					Wnt receptor signaling pathway	extracellular region	heparin binding		EIF3E/RSPO2(6)	haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	28			OV - Ovarian serous cystadenocarcinoma(57;1.55e-09)			tccttcgccttTGGTGTTCTC	0.423													14	22					0	0	1	0	0	G	108913404	T	G	108913404	3	3	81	1	0	0	0	0	1	0	0	0	13762	1850	64	5	104	5	RSPO2	8	108913404	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	616463	108913404	37450618	6919	10535											
TRHR	7201	broad.mit.edu	37	8	110099767	110099767	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:110099767T>G	ENST00000518632.1	+	2	377	c.26T>G	c.(25-27)cTg>cGg	p.L9R	TRHR_ENST00000311762.2_Missense_Mutation_p.L9R			P34981	TRFR_HUMAN	thyrotropin-releasing hormone receptor	9						integral to plasma membrane	thyrotropin-releasing hormone receptor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(12)|prostate(4)|skin(4)|urinary_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(57;2.3e-11)			GTCAGTGAACTGAACCAAACA	0.458													5	41					0	0	1	0	0	G	110099767	T	G	110099767	3	3	81	1	0	0	0	0	1	0	0	0	16541	1580	55	5	28	5	TRHR	8	110099767	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	1186363	110099767	36264255	6920	10536											
TRHR	7201	broad.mit.edu	37	8	110131387	110131387	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:110131387G>A	ENST00000518632.1	+	3	1251	c.900G>A	c.(898-900)tgG>tgA	p.W300*	TRHR_ENST00000311762.2_Nonsense_Mutation_p.W300*			P34981	TRFR_HUMAN	thyrotropin-releasing hormone receptor	300						integral to plasma membrane	thyrotropin-releasing hormone receptor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(12)|prostate(4)|skin(4)|urinary_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(57;2.3e-11)			AAGAAAATTGGTTTTTGCTCT	0.433													98	162					0	0	1	0	0	A	110131387	G	A	110131387	4	1	81	1	0	0	0	0	0	1	0	0	16541	1270	44	2	906	2	TRHR	8	110131387	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	31620	110131387	36232635	6921	10537											
ENY2	56943	broad.mit.edu	37	8	110348394	110348394	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:110348394C>T	ENST00000521688.1	+	2	189	c.44C>T	c.(43-45)gCg>gTg	p.A15V	ENY2_ENST00000520147.1_Missense_Mutation_p.A10V|ENY2_ENST00000522407.1_Intron|ENY2_ENST00000521662.1_Missense_Mutation_p.A10V	NM_001193557.1|NM_020189.5	NP_001180486.1|NP_064574.1	Q9NPA8	ENY2_HUMAN	enhancer of yellow 2 homolog (Drosophila)	15					histone deubiquitination|mRNA transport|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	SAGA complex	ligand-dependent nuclear receptor transcription coactivator activity			endometrium(2)|large_intestine(1)|lung(1)	4	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;9.05e-13)			ATGAGAGCAGCGATTAACCAA	0.348													5	17					0	0	1	0	0	T	110348394	C	T	110348394	3	4	81	1	0	0	0	0	1	0	0	0	5174	768	27	1	50	1	ENY2	8	110348394	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	217007	110348394	36015628	6922	10538											
ENY2	56943	broad.mit.edu	37	8	110352717	110352717	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:110352717G>T	ENST00000521688.1	+	4	299		c.e4-1		ENY2_ENST00000520147.1_Splice_Site|ENY2_ENST00000522407.1_Splice_Site|ENY2_ENST00000521662.1_Splice_Site	NM_001193557.1|NM_020189.5	NP_001180486.1|NP_064574.1	Q9NPA8	ENY2_HUMAN	enhancer of yellow 2 homolog (Drosophila)						histone deubiquitination|mRNA transport|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	SAGA complex	ligand-dependent nuclear receptor transcription coactivator activity			endometrium(2)|large_intestine(1)|lung(1)	4	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;9.05e-13)			TTTTGCATAAGAGGTAATTAA	0.328													4	52					3.59834e-05	3.99423e-05	1	1	0	T	110352717	G	T	110352717	5	4	81	1	0	0	0	0	0	0	1	0	5174	956	33	4	168	4	ENY2	8	110352717	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	4323	110352717	36011305	6923	10539											
PKHD1L1	93035	broad.mit.edu	37	8	110448591	110448591	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:110448591G>A	ENST00000378402.5	+	30	3634	c.3530G>A	c.(3529-3531)gGa>gAa	p.G1177E		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1177	IPT/TIG 5.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			ACTTTATCTGGATTTGGCTTT	0.318										HNSCC(38;0.096)			18	36					0	0	1	0	0	A	110448591	G	A	110448591	3	1	81	1	0	0	0	0	1	0	0	0	12020	1174	41	2	3648	2	PKHD1L1	8	110448591	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	95874	110448591	35915431	6924	10540											
PKHD1L1	93035	broad.mit.edu	37	8	110456104	110456104	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:110456104C>A	ENST00000378402.5	+	37	4868	c.4764C>A	c.(4762-4764)ggC>ggA	p.G1588G		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1588	IPT/TIG 8.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TTGGACATGGCTTTAGTAATC	0.328										HNSCC(38;0.096)			22	40					5.45024e-15	6.94259e-15	1	1	0	A	110456104	C	A	110456104	2	1	81	1	0	0	0	0	0	0	0	1	12020	784	28	4		4	PKHD1L1	8	110456104	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	7513	110456104	35907918	6925	10541											
PKHD1L1	93035	broad.mit.edu	37	8	110464461	110464461	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:110464461G>A	ENST00000378402.5	+	42	6563	c.6459G>A	c.(6457-6459)ggG>ggA	p.G2153G		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2153	IPT/TIG 14.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CTCTATCAGGGTGGGCTCCAG	0.448										HNSCC(38;0.096)			33	36					0	0	1	0	0	A	110464461	G	A	110464461	2	1	81	1	0	0	0	0	0	0	0	1	12020	1248	44	2		2	PKHD1L1	8	110464461	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	8357	110464461	35899561	6926	10542											
PKHD1L1	93035	broad.mit.edu	37	8	110476889	110476889	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:110476889G>A	ENST00000378402.5	+	49	7932	c.7828G>A	c.(7828-7830)Gaa>Aaa	p.E2610K		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2610					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TCCCCTTGGCGAATTTTTTAA	0.443										HNSCC(38;0.096)			18	94					0	0	1	0	0	A	110476889	G	A	110476889	3	1	81	1	0	0	0	0	1	0	0	0	12020	1059	37	1	8022	1	PKHD1L1	8	110476889	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	12428	110476889	35887133	6927	10543											
PKHD1L1	93035	broad.mit.edu	37	8	110498895	110498895	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:110498895C>A	ENST00000378402.5	+	59	9829	c.9725C>A	c.(9724-9726)cCt>cAt	p.P3242H		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	3242					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TACCATGTCCCTGGAACTGGT	0.423										HNSCC(38;0.096)			11	135					0.0135373	0.014045	1	1	0	A	110498895	C	A	110498895	3	1	81	1	0	0	0	0	1	0	0	0	12020	681	24	4	9959	4	PKHD1L1	8	110498895	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	22006	110498895	35865127	6928	10544											
PKHD1L1	93035	broad.mit.edu	37	8	110535097	110535097	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:110535097C>T	ENST00000378402.5	+	75	12412	c.12308C>T	c.(12307-12309)tCg>tTg	p.S4103L		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	4103					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CAGCAGCCTTCGGTAAAGGCA	0.458										HNSCC(38;0.096)			4	10					0	0	1	0	0	T	110535097	C	T	110535097	3	4	81	1	0	0	0	0	1	0	0	0	12020	893	31	1	12606	1	PKHD1L1	8	110535097	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	36202	110535097	35828925	6929	10545											
EBAG9	9166	broad.mit.edu	37	8	110569236	110569236	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:110569236G>T	ENST00000337573.5	+	5	694	c.394G>T	c.(394-396)Gca>Tca	p.A132S	EBAG9_ENST00000531677.1_Missense_Mutation_p.A132S|EBAG9_ENST00000529502.1_3'UTR|EBAG9_ENST00000395785.2_Missense_Mutation_p.A132S	NM_001278938.1|NM_004215.3	NP_001265867.1|NP_004206.1	O00559	RCAS1_HUMAN	estrogen receptor binding site associated, antigen, 9	132					apoptosis|regulation of cell growth	focal adhesion|Golgi membrane|integral to membrane|soluble fraction	apoptotic protease activator activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(2)	10			OV - Ovarian serous cystadenocarcinoma(57;1.39e-14)			TAGTAGATTAGCAGCTACACA	0.343													6	30					0.0293803	0.0300537	1	1	0	T	110569236	G	T	110569236	3	4	81	1	0	0	0	0	1	0	0	0	4905	971	34	4	408	4	EBAG9	8	110569236	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	34139	110569236	35794786	6930	10546											
EBAG9	9166	broad.mit.edu	37	8	110575634	110575634	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:110575634C>T	ENST00000531677.1	+	6	530	c.530C>T	c.(529-531)aCc>aTc	p.T177I	EBAG9_ENST00000395785.2_Intron|EBAG9_ENST00000337573.5_Intron			O00559	RCAS1_HUMAN	estrogen receptor binding site associated, antigen, 9	174					apoptosis|regulation of cell growth	focal adhesion|Golgi membrane|integral to membrane|soluble fraction	apoptotic protease activator activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(2)	10			OV - Ovarian serous cystadenocarcinoma(57;1.39e-14)			AGATCCAGGACCAATGTATGT	0.443													102	180					0	0	1	0	0	T	110575634	C	T	110575634	3	4	81	1	0	0	0	0	1	0	0	0	4905	522	18	2		2	EBAG9	8	110575634	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	6398	110575634	35788388	6931	10547											
CSMD3	114788	broad.mit.edu	37	8	113275879	113275879	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:113275879G>A	ENST00000297405.5	-	61	10095	c.9851C>T	c.(9850-9852)cCg>cTg	p.P3284L	CSMD3_ENST00000455883.2_Missense_Mutation_p.P3115L|CSMD3_ENST00000343508.3_Missense_Mutation_p.P3244L|CSMD3_ENST00000352409.3_Missense_Mutation_p.P3214L	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3284	Sushi 25.					integral to membrane|plasma membrane		p.P3284Q(1)|p.P3244L(1)|p.P3284L(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TAAGCACTGCGGTACTTCACC	0.398										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			17	15					0	0	1	0	0	A	113275879	G	A	113275879	3	1	81	1	0	0	0	0	1	0	0	0	3971	1116	39	1	1316	1	CSMD3	8	113275879	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2700245	113275879	33088143	6932	10548											
CSMD3	114788	broad.mit.edu	37	8	113347559	113347559	+	Splice_Site	SNP	G	G	A	rs61754528		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:113347559G>A	ENST00000297405.5	-	45	7408	c.7164C>T	c.(7162-7164)caC>caT	p.H2388H	CSMD3_ENST00000455883.2_Splice_Site_p.H2284H|CSMD3_ENST00000343508.3_Splice_Site_p.H2348H|CSMD3_ENST00000352409.3_Splice_Site_p.H2318H	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2388	CUB 13.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AATACCAACCGTGATAACTGA	0.333										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			4	34					0	0	1	0	0	A	113347559	G	A	113347559	5	1	81	1	0	0	0	0	0	0	1	0	3971	1159	40	1	4067	1	CSMD3	8	113347559	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	71680	113347559	33016463	6933	10549											
CSMD3	114788	broad.mit.edu	37	8	113529312	113529312	+	Silent	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:113529312A>T	ENST00000297405.5	-	28	4951	c.4707T>A	c.(4705-4707)atT>atA	p.I1569I	CSMD3_ENST00000455883.2_Silent_p.I1465I|CSMD3_ENST00000343508.3_Silent_p.I1529I|CSMD3_ENST00000352409.3_Silent_p.I1569I	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1569	Sushi 8.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TTTCTACCTGAATGCAGGTTA	0.393										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			11	79					0	0	1	0	0	T	113529312	A	T	113529312	2	4	81	1	0	0	0	0	0	0	0	1	3971	242	9	5		5	CSMD3	8	113529312	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	181753	113529312	32834710	6934	10550											
CSMD3	114788	broad.mit.edu	37	8	114327022	114327022	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:114327022C>A	ENST00000297405.5	-	2	423	c.179G>T	c.(178-180)gGa>gTa	p.G60V	CSMD3_ENST00000455883.2_Splice_Site_p.G60V|CSMD3_ENST00000343508.3_Splice_Site_p.G20V|CSMD3_ENST00000352409.3_Splice_Site_p.G60V	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	60						integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ATAAATAAATCCTGCAACAAA	0.318										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			25	54					1.64293e-13	2.07283e-13	1	1	0	A	114327022	C	A	114327022	5	1	81	1	0	0	0	0	0	0	1	0	3971	869	30	5	11224	5	CSMD3	8	114327022	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	797710	114327022	32037000	6935	10551											
TRPS1	7227	broad.mit.edu	37	8	116599751	116599751	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:116599751G>T	ENST00000395715.3	-	5	2754	c.2177C>A	c.(2176-2178)aCt>aAt	p.T726N	TRPS1_ENST00000220888.5_Missense_Mutation_p.T713N|TRPS1_ENST00000519076.1_Missense_Mutation_p.T467N|TRPS1_ENST00000520276.1_Missense_Mutation_p.T717N|TRPS1_ENST00000519674.1_Missense_Mutation_p.T713N	NM_001282902.1|NM_001282903.1|NM_014112.2	NP_001269831.1|NP_001269832.1|NP_054831.2	Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	713	Mediates interaction with GLI3.				negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			GCAGTGAACAGTGTTGAAGTG	0.502									Langer-Giedion syndrome				11	83					4.68919e-08	5.54405e-08	1	1	0	T	116599751	G	T	116599751	3	4	81	1	0	0	0	0	1	0	0	0	16654	1029	36	4	1719	4	TRPS1	8	116599751	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2272729	116599751	29764271	6936	10552											
EXT1	2131	broad.mit.edu	37	8	118834803	118834803	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:118834803G>A	ENST00000378204.2	-	5	2124	c.1318C>T	c.(1318-1320)Cgt>Tgt	p.R440C		NM_000127.2	NP_000118.2	Q16394	EXT1_HUMAN	exostosin glycosyltransferase 1	440					glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction|skeletal system development	Golgi membrane|integral to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|endometrium(7)|kidney(1)|large_intestine(12)|lung(10)|ovary(3)|prostate(1)|stomach(1)|urinary_tract(2)	38	all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.012)			AAACTGTTACGTGATATGTGC	0.358			"Mis, N, F, S"			"exostoses, osteosarcoma"			Langer-Giedion syndrome;Hereditary Multiple Exostoses				22	49					0	0	1	0	0	A	118834803	G	A	118834803	3	1	81	1	0	0	0	0	1	0	0	0	5351	1145	40	1	950	1	EXT1	8	118834803	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2235052	118834803	27529219	6937	10553											
EXT1	2131	broad.mit.edu	37	8	119122459	119122459	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:119122459C>A	ENST00000378204.2	-	1	1633	c.827G>T	c.(826-828)gGa>gTa	p.G276V		NM_000127.2	NP_000118.2	Q16394	EXT1_HUMAN	exostosin glycosyltransferase 1	276					glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction|skeletal system development	Golgi membrane|integral to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|endometrium(7)|kidney(1)|large_intestine(12)|lung(10)|ovary(3)|prostate(1)|stomach(1)|urinary_tract(2)	38	all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.012)			GGTGTCTGATCCTATCCCTGT	0.517			"Mis, N, F, S"			"exostoses, osteosarcoma"			Langer-Giedion syndrome;Hereditary Multiple Exostoses				5	56					0.000602214	0.000646338	1	1	0	A	119122459	C	A	119122459	3	1	81	1	0	0	0	0	1	0	0	0	5351	855	30	5	1457	5	EXT1	8	119122459	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	287656	119122459	27241563	6938	10554											
SAMD12	401474	broad.mit.edu	37	8	119593026	119593027	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:119593026_119593027insT	ENST00000409003.4	-	2	247_248	c.119_120insA	c.(118-120)aatfs	p.N40fs	SAMD12_ENST00000314727.4_Frame_Shift_Ins_p.N40fs	NM_001101676.1	NP_001095146.1	Q8N8I0	SAM12_HUMAN	sterile alpha motif domain containing 12	40										endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)	9	all_cancers(13;3.91e-25)|Lung NSC(37;1.13e-07)|Ovarian(258;0.0249)		STAD - Stomach adenocarcinoma(47;0.00391)			GGAAATTTTTATTTTTAATGGA	0.45													26	55	---	---	---	---						T	119593027	-	T	119593026	7	5	81	1	0	1	1	0	0	0	0	0	13869	446	16	0	524	0	SAMD12	8	119593026	Frame_Shift_Ins	INS	-	TCGA-DU-6392-01A-11D-1705-08	470567	119593026	26770996	6939	10555											
TNFRSF11B	4982	broad.mit.edu	37	8	119936679	119936679	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:119936679C>T	ENST00000297350.4	-	5	1518	c.1140G>A	c.(1138-1140)ttG>ttA	p.L380L		NM_002546.3	NP_002537.3	O00300	TR11B_HUMAN	tumor necrosis factor receptor superfamily, member 11b	380					apoptosis|skeletal system development		cytokine activity|receptor activity			breast(1)|central_nervous_system(3)|endometrium(4)|large_intestine(6)|lung(7)|prostate(3)|skin(1)	25	all_cancers(13;3.71e-26)|Lung NSC(37;1.69e-07)|Ovarian(258;0.018)|all_neural(195;0.0592)|Hepatocellular(40;0.234)		STAD - Stomach adenocarcinoma(47;0.00193)			ACTTCTGATACAATTTGTACA	0.383													57	95					0	0	1	0	0	T	119936679	C	T	119936679	2	4	81	1	0	0	0	0	0	0	0	1	16345	477	17	2		2	TNFRSF11B	8	119936679	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	343653	119936679	26427343	6940	10556											
TNFRSF11B	4982	broad.mit.edu	37	8	119941092	119941092	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:119941092G>T	ENST00000297350.4	-	3	855	c.477C>A	c.(475-477)ccC>ccA	p.P159P		NM_002546.3	NP_002537.3	O00300	TR11B_HUMAN	tumor necrosis factor receptor superfamily, member 11b	159					apoptosis|skeletal system development		cytokine activity|receptor activity			breast(1)|central_nervous_system(3)|endometrium(4)|large_intestine(6)|lung(7)|prostate(3)|skin(1)	25	all_cancers(13;3.71e-26)|Lung NSC(37;1.69e-07)|Ovarian(258;0.018)|all_neural(195;0.0592)|Hepatocellular(40;0.234)		STAD - Stomach adenocarcinoma(47;0.00193)			GTTTTCTACAGGGTGCTTTAG	0.413													47	75					6.61955e-31	8.83192e-31	1	1	0	T	119941092	G	T	119941092	2	4	81	1	0	0	0	0	0	0	0	1	16345	987	35	4		4	TNFRSF11B	8	119941092	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	4413	119941092	26422930	6941	10557											
ENPP2	5168	broad.mit.edu	37	8	120612990	120612990	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:120612990C>T	ENST00000427067.2	-	11	1068	c.888G>A	c.(886-888)agG>agA	p.R296R	ENPP2_ENST00000259486.6_Splice_Site_p.R300R|ENPP2_ENST00000522826.1_Splice_Site_p.R300R|ENPP2_ENST00000075322.6_Splice_Site_p.R300R			Q13822	ENPP2_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 2	300					cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration	extracellular space|integral to plasma membrane	alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			AGACCGAAGGCCTATAAGAAA	0.378													13	35					0	0	1	0	0	T	120612990	C	T	120612990	5	4	81	1	0	0	0	0	0	0	1	0	5158	753	26	2	1990	2	ENPP2	8	120612990	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	671898	120612990	25751032	6942	10558											
ENPP2	5168	broad.mit.edu	37	8	120628563	120628563	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:120628563G>A	ENST00000427067.2	-	8	887	c.707C>T	c.(706-708)gCc>gTc	p.A236V	ENPP2_ENST00000259486.6_Missense_Mutation_p.A240V|ENPP2_ENST00000522826.1_Missense_Mutation_p.A240V|ENPP2_ENST00000075322.6_Missense_Mutation_p.A240V			Q13822	ENPP2_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 2	240					cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration	extracellular space|integral to plasma membrane	alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			ATGAAAAGTGGCATCAAATAC	0.363													4	56					0	0	1	0	0	A	120628563	G	A	120628563	3	1	81	1	0	0	0	0	1	0	0	0	5158	1203	42	2	2183	2	ENPP2	8	120628563	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	15573	120628563	25735459	6943	10559											
TAF2	6873	broad.mit.edu	37	8	120818592	120818592	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:120818592C>T	ENST00000378164.2	-	4	647	c.349G>A	c.(349-351)Gtg>Atg	p.V117M		NM_003184.3	NP_003175	Q6P1X5	TAF2_HUMAN	TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa	117					G2/M transition of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor TFIID complex|transcription factor TFTC complex	metallopeptidase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(2)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(21)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	49	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			TCAGGGTCCACAGCACTAACT	0.398													10	152					0	0	1	0	0	T	120818592	C	T	120818592	3	4	81	1	0	0	0	0	1	0	0	0	15581	478	17	2	3342	2	TAF2	8	120818592	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	190029	120818592	25545430	6944	10560											
COL14A1	7373	broad.mit.edu	37	8	121344960	121344960	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:121344960G>A	ENST00000297848.3	+	42	5041	c.4771G>A	c.(4771-4773)Gcc>Acc	p.A1591T	COL14A1_ENST00000247781.3_Missense_Mutation_p.A1496T|COL14A1_ENST00000309791.4_Missense_Mutation_p.A1591T	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	1591	Triple-helical region 1 (COL2).				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging	p.A1591T(1)		NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			ACCGCAAGGCGCCCTGGGACC	0.507													13	24					0	0	1	0	0	A	121344960	G	A	121344960	3	1	81	1	0	0	0	0	1	0	0	0	3694	1087	38	1	4933	1	COL14A1	8	121344960	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	526368	121344960	25019062	6945	10561											
MTBP	27085	broad.mit.edu	37	8	121463488	121463488	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:121463488C>T	ENST00000305949.1	+	4	396	c.351C>T	c.(349-351)atC>atT	p.I117I		NM_022045.4	NP_071328.2	Q96DY7	MTBP_HUMAN	Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse) binding protein, 104kDa	117					cell cycle arrest					NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00503)			AAACGAATATCGAAGAATGTT	0.313													7	53					0	0	1	0	0	T	121463488	C	T	121463488	2	4	81	1	0	0	0	0	0	0	0	1	9960	874	31	1		1	MTBP	8	121463488	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	118528	121463488	24900534	6946	10562											
MTBP	27085	broad.mit.edu	37	8	121467747	121467747	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:121467747C>T	ENST00000305949.1	+	6	602	c.557C>T	c.(556-558)aCt>aTt	p.T186I		NM_022045.4	NP_071328.2	Q96DY7	MTBP_HUMAN	Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse) binding protein, 104kDa	186					cell cycle arrest					NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00503)			TATTTACCTACTGTAGGAGCA	0.318													40	68					0	0	1	0	0	T	121467747	C	T	121467747	3	4	81	1	0	0	0	0	1	0	0	0	9960	565	20	2	579	2	MTBP	8	121467747	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	4259	121467747	24896275	6947	10563											
ZHX2	22882	broad.mit.edu	37	8	123964116	123964116	+	Silent	SNP	C	C	T	rs139940405	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:123964116C>T	ENST00000314393.4	+	3	1201	c.366C>T	c.(364-366)taC>taT	p.Y122Y		NM_014943.3	NP_055758.1	Q9Y6X8	ZHX2_HUMAN	zinc fingers and homeoboxes 2	122						cytoplasm|nucleus|plasma membrane	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	45	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		STAD - Stomach adenocarcinoma(47;0.00527)			CCAAAAAGTACGACTCCCTAT	0.478													15	39					0	0	1	0	0	T	123964116	C	T	123964116	2	4	81	1	0	0	0	0	0	0	0	1	17734	547	19	1		1	ZHX2	8	123964116	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2496369	123964116	22399906	6948	10564											
FAM83A	84985	broad.mit.edu	37	8	124195134	124195134	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:124195134G>A	ENST00000518448.1	+	2	2052	c.38G>A	c.(37-39)cGt>cAt	p.R13H	FAM83A_ENST00000546351.1_Missense_Mutation_p.R13H|FAM83A_ENST00000536633.1_Missense_Mutation_p.R13H|FAM83A_ENST00000522648.1_Missense_Mutation_p.R13H|FAM83A_ENST00000318462.6_Missense_Mutation_p.R13H|FAM83A_ENST00000276699.6_Missense_Mutation_p.R13H			Q86UY5	FA83A_HUMAN	family with sequence similarity 83, member A	13										breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(2)|skin(1)	17	Lung NSC(37;1.55e-09)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)			ATCCGGAAGCGTCTGGAAGAT	0.647													3	11					0	0	1	0	0	A	124195134	G	A	124195134	3	1	81	1	0	0	0	0	1	0	0	0	5665	1145	40	1	40	1	FAM83A	8	124195134	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	231018	124195134	22168888	6949	10565											
FAM83A	84985	broad.mit.edu	37	8	124219712	124219712	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:124219712G>A	ENST00000518448.1	+	5	3103	c.1089G>A	c.(1087-1089)ccG>ccA	p.P363P	FAM83A_ENST00000546351.1_Intron|FAM83A_ENST00000536633.1_Intron|FAM83A_ENST00000522648.1_Intron|FAM83A_ENST00000318462.6_Silent_p.P363P|FAM83A_ENST00000276699.6_Intron			Q86UY5	FA83A_HUMAN	family with sequence similarity 83, member A	363	Pro-rich.									breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(2)|skin(1)	17	Lung NSC(37;1.55e-09)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)			CCCCACACCCGCCTCCACCGC	0.766													4	3					0	0	1	0	0	A	124219712	G	A	124219712	2	1	81	1	0	0	0	0	0	0	0	1	5665	1074	38	1		1	FAM83A	8	124219712	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	24578	124219712	22144310	6950	10566											
C8orf76	84933	broad.mit.edu	37	8	124243798	124243798	+	Missense_Mutation	SNP	G	G	A	rs149988027		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:124243798G>A	ENST00000276704.4	-	4	608	c.557C>T	c.(556-558)gCg>gTg	p.A186V	C8orf76_ENST00000521310.1_5'UTR|ZHX1-C8ORF76_ENST00000357082.4_Missense_Mutation_p.A154V	NM_032847.2	NP_116236.1	Q96K31	CH076_HUMAN	chromosome 8 open reading frame 76	186							binding			NS(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(4)	17	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		STAD - Stomach adenocarcinoma(47;0.00527)			CTGAGATGACGCAAGTGCTGC	0.443													43	76					0	0	1	0	0	A	124243798	G	A	124243798	3	1	81	1	0	0	0	0	1	0	0	0	2455	1087	38	1	597	1	C8orf76	8	124243798	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	24086	124243798	22120224	6951	10567											
ATAD2	29028	broad.mit.edu	37	8	124340563	124340563	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:124340563A>G	ENST00000287394.5	-	25	3842	c.3735T>C	c.(3733-3735)acT>acC	p.T1245T	ATAD2_ENST00000521903.1_Silent_p.T563T	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	1245					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			CTATATTACAAGTATTTGAAT	0.378													23	41					0	0	1	0	0	G	124340563	A	G	124340563	2	3	81	1	0	0	0	0	0	0	0	1	1070	59	3	3		3	ATAD2	8	124340563	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	96765	124340563	22023459	6952	10568											
KLHL38	340359	broad.mit.edu	37	8	124658070	124658070	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:124658070G>T	ENST00000325995.7	-	3	1678	c.1655C>A	c.(1654-1656)aCc>aAc	p.T552N	CTD-2552K11.2_ENST00000524355.1_RNA	NM_001081675.2	NP_001075144.2	Q2WGJ6	KLH38_HUMAN	kelch-like family member 38	552										breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1)	38						GGATGTCCAGGTGTCCGTCTC	0.612													5	62					1.6384e-10	2.00851e-10	1	1	0	T	124658070	G	T	124658070	3	4	81	1	0	0	0	0	1	0	0	0	8433	1261	44	5	94	5	KLHL38	8	124658070	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	317507	124658070	21705952	6953	10569											
FAM91A1	157769	broad.mit.edu	37	8	124792766	124792766	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:124792766T>C	ENST00000334705.7	+	8	933	c.687T>C	c.(685-687)gaT>gaC	p.D229D	FAM91A1_ENST00000521166.1_Silent_p.D229D	NM_144963.2	NP_659400	Q658Y4	F91A1_HUMAN	family with sequence similarity 91, member A1	229										breast(4)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28	Lung NSC(37;8.76e-13)|Ovarian(258;0.00744)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00192)			CAATATCTGATGACAGTTGTA	0.348													3	32					0	0	1	0	0	C	124792766	T	C	124792766	2	2	81	1	0	0	0	0	0	0	0	1	5684	1461	51	3		3	FAM91A1	8	124792766	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	134696	124792766	21571256	6954	10570											
FER1L6	654463	broad.mit.edu	37	8	124987529	124987529	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:124987529C>T	ENST00000522917.1	+	8	872	c.666C>T	c.(664-666)acC>acT	p.T222T	FER1L6_ENST00000399018.1_Silent_p.T222T	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	222						integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			CTTCTGACACCGAGGAGCCAA	0.453													39	52					0	0	1	0	0	T	124987529	C	T	124987529	2	4	81	1	0	0	0	0	0	0	0	1	5848	639	23	1		1	FER1L6	8	124987529	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	194763	124987529	21376493	6955	10571											
FER1L6	654463	broad.mit.edu	37	8	124992896	124992896	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:124992896C>A	ENST00000522917.1	+	11	1461	c.1255C>A	c.(1255-1257)Ctg>Atg	p.L419M	FER1L6_ENST00000399018.1_Missense_Mutation_p.L419M	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	419						integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			TTCCAAGGCCCTGAAGGAGCT	0.468											OREG0018964	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	74					0.00116845	0.00124301	1	1	0	A	124992896	C	A	124992896	3	1	81	1	0	0	0	0	1	0	0	0	5848	680	24	4	1293	4	FER1L6	8	124992896	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	5367	124992896	21371126	6956	10572											
FER1L6	654463	broad.mit.edu	37	8	125131098	125131098	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:125131098C>T	ENST00000522917.1	+	40	5509	c.5303C>T	c.(5302-5304)gCt>gTt	p.A1768V	FER1L6_ENST00000399018.1_Missense_Mutation_p.A1768V|FER1L6-AS2_ENST00000520031.1_RNA	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	1768						integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			AAGGTTGAAGCTGAGTTCCAC	0.488													4	19					0	0	1	0	0	T	125131098	C	T	125131098	3	4	81	1	0	0	0	0	1	0	0	0	5848	797	28	2	5457	2	FER1L6	8	125131098	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	138202	125131098	21232924	6957	10573											
TRMT12	55039	broad.mit.edu	37	8	125464168	125464168	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:125464168C>T	ENST00000328599.3	+	1	1121	c.1000C>T	c.(1000-1002)Cat>Tat	p.H334Y	TRMT12_ENST00000521443.1_Intron	NM_017956.3	NP_060426.2	Q53H54	TYW2_HUMAN	tRNA methyltransferase 12 homolog (S. cerevisiae)	334					tRNA processing		methyltransferase activity			breast(2)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			AGGCATTTTGCATATCCACCA	0.478													19	39					0	0	1	0	0	T	125464168	C	T	125464168	3	4	81	1	0	0	0	0	1	0	0	0	16625	710	25	2	1002	2	TRMT12	8	125464168	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	333070	125464168	20899854	6958	10574											
MTSS1	9788	broad.mit.edu	37	8	125575091	125575091	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:125575091C>A	ENST00000518547.1	-	10	1440	c.967G>T	c.(967-969)Gga>Tga	p.G323*	MTSS1_ENST00000325064.5_Nonsense_Mutation_p.G327*|MTSS1_ENST00000354184.4_Nonsense_Mutation_p.G123*|NDUFB9_ENST00000522532.1_Intron|MTSS1_ENST00000395508.2_Nonsense_Mutation_p.G57*|MTSS1_ENST00000524090.1_Nonsense_Mutation_p.G213*|MTSS1_ENST00000431961.2_Nonsense_Mutation_p.G123*|MTSS1_ENST00000523587.1_5'UTR|MTSS1_ENST00000378017.3_Nonsense_Mutation_p.G323*	NM_001282971.1|NM_014751.4	NP_001269900.1|NP_055566.3	O43312	MTSS1_HUMAN	metastasis suppressor 1	323	Ser-rich.				actin cytoskeleton organization|cell adhesion|cellular component movement|filopodium assembly|transmembrane receptor protein tyrosine kinase signaling pathway	actin cytoskeleton|endocytic vesicle|ruffle	actin monomer binding|cytoskeletal adaptor activity|receptor binding|SH3 domain binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37	Ovarian(258;0.00438)|all_neural(195;0.00459)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			GATATGAATCCTGAGTCATGG	0.622													18	33					4.96729e-08	5.86596e-08	1	1	0	A	125575091	C	A	125575091	4	1	81	1	0	0	0	0	0	1	0	0	10010	690	24	4	1320	4	MTSS1	8	125575091	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	110923	125575091	20788931	6959	10575											
MTSS1	9788	broad.mit.edu	37	8	125579376	125579376	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:125579376G>A	ENST00000518547.1	-	8	1135	c.662C>T	c.(661-663)aCc>aTc	p.T221I	MTSS1_ENST00000325064.5_Missense_Mutation_p.T225I|MTSS1_ENST00000354184.4_Missense_Mutation_p.T21I|NDUFB9_ENST00000522532.1_Intron|MTSS1_ENST00000524090.1_Missense_Mutation_p.T111I|MTSS1_ENST00000431961.2_Missense_Mutation_p.T21I|MTSS1_ENST00000378017.3_Missense_Mutation_p.T221I	NM_001282971.1|NM_014751.4	NP_001269900.1|NP_055566.3	O43312	MTSS1_HUMAN	metastasis suppressor 1	221	IMD.				actin cytoskeleton organization|cell adhesion|cellular component movement|filopodium assembly|transmembrane receptor protein tyrosine kinase signaling pathway	actin cytoskeleton|endocytic vesicle|ruffle	actin monomer binding|cytoskeletal adaptor activity|receptor binding|SH3 domain binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37	Ovarian(258;0.00438)|all_neural(195;0.00459)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			TTCCGAGATGGTCTGAAGGTG	0.443													30	59					0	0	1	0	0	A	125579376	G	A	125579376	3	1	81	1	0	0	0	0	1	0	0	0	10010	1261	44	2	1633	2	MTSS1	8	125579376	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	4285	125579376	20784646	6960	10576											
ZNF572	137209	broad.mit.edu	37	8	125989977	125989977	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:125989977T>C	ENST00000319286.5	+	3	1621	c.1467T>C	c.(1465-1467)atT>atC	p.I489I		NM_152412.2	NP_689625.2	Q7Z3I7	ZN572_HUMAN	zinc finger protein 572	489					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	31	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			ATCGGAAAATTCACGTAGAAA	0.463										HNSCC(60;0.17)			9	128					0	0	1	0	0	C	125989977	T	C	125989977	2	2	81	1	0	0	0	0	0	0	0	1	18061	1771	62	3		3	ZNF572	8	125989977	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	410601	125989977	20374045	6961	10577											
SQLE	6713	broad.mit.edu	37	8	126017926	126017926	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:126017926A>G	ENST00000265896.5	+	3	1602	c.704A>G	c.(703-705)aAa>aGa	p.K235R	SQLE_ENST00000523430.1_Missense_Mutation_p.K140R	NM_003129.3	NP_003120.2	Q14534	ERG1_HUMAN	squalene epoxidase	235					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome	flavin adenine dinucleotide binding|squalene monooxygenase activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	14	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)		Butenafine(DB01091)|Naftifine(DB00735)|Terbinafine(DB00857)	AGTCTCCGGAAAGCAGCTATG	0.373													16	24					0	0	1	0	0	G	126017926	A	G	126017926	3	3	81	1	0	0	0	0	1	0	0	0	15184	14	1	3	714	3	SQLE	8	126017926	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	27949	126017926	20346096	6962	10578											
KIAA0196	9897	broad.mit.edu	37	8	126044599	126044599	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:126044599C>T	ENST00000318410.7	-	27	3568	c.3219G>A	c.(3217-3219)tgG>tgA	p.W1073*	KIAA0196_ENST00000517845.1_Nonsense_Mutation_p.W925*	NM_014846.3	NP_055661.3	Q12768	STRUM_HUMAN	KIAA0196	1073					cell death	WASH complex				NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	42	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			CAAGTGGTGGCCAATCAACCG	0.522													9	69					0	0	1	0	0	T	126044599	C	T	126044599	4	4	81	1	0	0	0	0	0	1	0	0	8203	740	26	2	272	2	KIAA0196	8	126044599	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	26673	126044599	20319423	6963	10579											
KIAA0196	9897	broad.mit.edu	37	8	126073352	126073353	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:126073352_126073353insT	ENST00000318410.7	-	12	1841_1842	c.1492_1493insA	c.(1492-1494)actfs	p.T498fs	KIAA0196_ENST00000517845.1_Frame_Shift_Ins_p.T350fs	NM_014846.3	NP_055661.3	Q12768	STRUM_HUMAN	KIAA0196	498					cell death	WASH complex				NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	42	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			CAGTTGTACAGTTTTTCTGCCC	0.376													10	34	---	---	---	---						T	126073353	-	T	126073352	7	5	81	1	0	1	1	0	0	0	0	0	8203	1029	36	0	2058	0	KIAA0196	8	126073352	Frame_Shift_Ins	INS	-	TCGA-DU-6392-01A-11D-1705-08	28753	126073352	20290670	6964	10580											
TRIB1	10221	broad.mit.edu	37	8	126445615	126445615	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:126445615G>A	ENST00000311922.3	+	2	999	c.417G>A	c.(415-417)tcG>tcA	p.S139S	TRIB1_ENST00000520847.1_5'UTR|TRIB1_ENST00000521778.1_3'UTR	NM_001282985.1|NM_025195.2	NP_001269914.1|NP_079471.1	Q96RU8	TRIB1_HUMAN	tribbles pseudokinase 1	139	Protein kinase.				JNK cascade|negative regulation of lipopolysaccharide-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell proliferation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|regulation of MAP kinase activity|response to lipopolysaccharide	cytoplasm|nucleus	ATP binding|mitogen-activated protein kinase kinase binding|protein kinase activity|protein kinase inhibitor activity|transcription factor binding|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity	p.S139S(2)		NS(1)|large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1)	8	all_hematologic(1;4.97e-05)|Ovarian(258;0.00167)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)			AGCTGCCATCGCACAGCAACA	0.493													11	234					0	0	1	0	0	A	126445615	G	A	126445615	2	1	81	1	0	0	0	0	0	0	0	1	16543	1074	38	1		1	TRIB1	8	126445615	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	372263	126445615	19918407	6965	10581											
FAM84B	157638	broad.mit.edu	37	8	127569239	127569239	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:127569239G>T	ENST00000304916.3	-	2	851	c.396C>A	c.(394-396)caC>caA	p.H132Q	RP11-103H7.5_ENST00000524320.1_RNA	NM_174911.4	NP_777571.1	Q96KN1	FA84B_HUMAN	family with sequence similarity 84, member B	132						cytoplasm|plasma membrane	protein binding			lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	5	Ovarian(5;9.43e-05)|Esophageal squamous(12;0.0012)|Hepatocellular(40;0.128)|Myeloproliferative disorder(2;0.135)		STAD - Stomach adenocarcinoma(47;0.000556)|Colorectal(2;0.0102)|Lung(2;0.0136)|READ - Rectum adenocarcinoma(2;0.0723)			ATACGGCCCAGTGCGGGTACT	0.647													10	13					4.68919e-08	5.54405e-08	1	1	0	T	127569239	G	T	127569239	3	4	81	1	0	0	0	0	1	0	0	0	5674	1020	36	4	540	4	FAM84B	8	127569239	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1123624	127569239	18794783	6966	10582											
ASAP1	50807	broad.mit.edu	37	8	131124478	131124478	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:131124478C>A	ENST00000357668.1	-	23	2290	c.2263G>T	c.(2263-2265)Gga>Tga	p.G755*	ASAP1_ENST00000518721.1_Nonsense_Mutation_p.G755*			Q9ULH1	ASAP1_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	755					cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						GTGCTGAATCCTGGCAGTGCC	0.572													7	73					0.00198382	0.00209725	1	1	0	A	131124478	C	A	131124478	4	1	81	1	0	0	0	0	0	1	0	0	1009	690	24	4	1154	4	ASAP1	8	131124478	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3555239	131124478	15239544	6967	10583											
ASAP1	50807	broad.mit.edu	37	8	131191542	131191542	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:131191542C>T	ENST00000357668.1	-	8	741	c.714G>A	c.(712-714)caG>caA	p.Q238Q	ASAP1_ENST00000518721.1_Silent_p.Q238Q			Q9ULH1	ASAP1_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	238					cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding	p.Q238H(1)		breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						TTATAAGATTCTGCAGCAGAT	0.368													18	29					0	0	1	0	0	T	131191542	C	T	131191542	2	4	81	1	0	0	0	0	0	0	0	1	1009	912	32	2		2	ASAP1	8	131191542	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	67064	131191542	15172480	6968	10584											
KCNQ3	3786	broad.mit.edu	37	8	133152421	133152421	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:133152421G>A	ENST00000388996.4	-	11	1890	c.1470C>T	c.(1468-1470)gcC>gcT	p.A490A	KCNQ3_ENST00000519445.1_Silent_p.A490A|KCNQ3_ENST00000521134.1_Silent_p.A370A	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	490					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			CACCTGTCCCGGCATCTGGGA	0.602													13	15					0	0	1	0	0	A	133152421	G	A	133152421	2	1	81	1	0	0	0	0	0	0	0	1	8128	1103	39	1		1	KCNQ3	8	133152421	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1960879	133152421	13211601	6969	10585											
KCNQ3	3786	broad.mit.edu	37	8	133153429	133153429	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:133153429C>T	ENST00000388996.4	-	10	1832	c.1412G>A	c.(1411-1413)cGt>cAt	p.R471H	KCNQ3_ENST00000519445.1_Missense_Mutation_p.R471H|KCNQ3_ENST00000521134.1_Missense_Mutation_p.R351H	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	471					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			CGTGCGGAAACGCTCTTTATT	0.453													6	80					0	0	1	0	0	T	133153429	C	T	133153429	3	4	81	1	0	0	0	0	1	0	0	0	8128	536	19	1	1230	1	KCNQ3	8	133153429	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1008	133153429	13210593	6970	10586											
KCNQ3	3786	broad.mit.edu	37	8	133182641	133182641	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:133182641C>T	ENST00000388996.4	-	8	1595	c.1175G>A	c.(1174-1176)aGg>aAg	p.R392K	KCNQ3_ENST00000519445.1_Missense_Mutation_p.R392K|KCNQ3_ENST00000521134.1_Missense_Mutation_p.R272K	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	392					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			CAGGTCAATCCTGTTGGGGTT	0.532													24	40					0	0	1	0	0	T	133182641	C	T	133182641	3	4	81	1	0	0	0	0	1	0	0	0	8128	681	24	2	1475	2	KCNQ3	8	133182641	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	29212	133182641	13181381	6971	10587											
KCNQ3	3786	broad.mit.edu	37	8	133192544	133192544	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:133192544C>T	ENST00000388996.4	-	4	1057	c.637G>A	c.(637-639)Gtt>Att	p.V213I	KCNQ3_ENST00000519445.1_Missense_Mutation_p.V213I|KCNQ3_ENST00000521134.1_Missense_Mutation_p.V93I	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	213					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			CCCACAGCAACCACTGGCACA	0.582													16	53					0	0	1	0	0	T	133192544	C	T	133192544	3	4	81	1	0	0	0	0	1	0	0	0	8128	507	18	2	2029	2	KCNQ3	8	133192544	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	9903	133192544	13171478	6972	10588											
PHF20L1	51105	broad.mit.edu	37	8	133816941	133816941	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:133816941G>A	ENST00000395386.2	+	8	1102	c.803G>A	c.(802-804)gGc>gAc	p.G268D	PHF20L1_ENST00000395376.1_Missense_Mutation_p.G273D|PHF20L1_ENST00000220847.7_5'UTR|PHF20L1_ENST00000395390.2_Missense_Mutation_p.G243D|PHF20L1_ENST00000395379.1_Missense_Mutation_p.G268D|PHF20L1_ENST00000337920.4_Missense_Mutation_p.G242D	NM_016018.4	NP_057102.4	A8MW92	P20L1_HUMAN	PHD finger protein 20-like 1	268							nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(1)|lung(10)|ovary(2)	15	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			AATAATCAAGGCAACTCGTTT	0.383													38	59					0	0	1	0	0	A	133816941	G	A	133816941	3	1	81	1	0	0	0	0	1	0	0	0	11880	1203	42	2	829	2	PHF20L1	8	133816941	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	624397	133816941	12547081	6973	10589											
PHF20L1	51105	broad.mit.edu	37	8	133854807	133854807	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:133854807G>A	ENST00000395386.2	+	19	2734	c.2435G>A	c.(2434-2436)cGa>cAa	p.R812Q	AF230666.2_ENST00000429151.1_RNA|PHF20L1_ENST00000220847.7_Missense_Mutation_p.R199Q|AF230666.2_ENST00000608375.1_RNA|PHF20L1_ENST00000395390.2_Missense_Mutation_p.R787Q	NM_016018.4	NP_057102.4	A8MW92	P20L1_HUMAN	PHD finger protein 20-like 1	812							nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(1)|lung(10)|ovary(2)	15	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			TCCGGGAAGCGAAAAGACCAA	0.348													17	28					0	0	1	0	0	A	133854807	G	A	133854807	3	1	81	1	0	0	0	0	1	0	0	0	11880	1058	37	1	2601	1	PHF20L1	8	133854807	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	37866	133854807	12509215	6974	10590											
PHF20L1	51105	broad.mit.edu	37	8	133854893	133854893	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:133854893A>C	ENST00000395386.2	+	19	2820	c.2521A>C	c.(2521-2523)Aac>Cac	p.N841H	AF230666.2_ENST00000429151.1_RNA|PHF20L1_ENST00000220847.7_Missense_Mutation_p.N228H|AF230666.2_ENST00000608375.1_RNA|PHF20L1_ENST00000395390.2_Missense_Mutation_p.N816H	NM_016018.4	NP_057102.4	A8MW92	P20L1_HUMAN	PHD finger protein 20-like 1	841							nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(1)|lung(10)|ovary(2)	15	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			ATATGTACAGAACCATAAAGA	0.383													17	32					0	0	1	0	0	C	133854893	A	C	133854893	3	2	81	1	0	0	0	0	1	0	0	0	11880	246	9	5	2687	5	PHF20L1	8	133854893	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	86	133854893	12509129	6975	10591											
PHF20L1	51105	broad.mit.edu	37	8	133854925	133854925	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:133854925A>G	ENST00000395386.2	+	19	2852	c.2553A>G	c.(2551-2553)aaA>aaG	p.K851K	AF230666.2_ENST00000429151.1_RNA|PHF20L1_ENST00000220847.7_Silent_p.K238K|AF230666.2_ENST00000608375.1_RNA|PHF20L1_ENST00000395390.2_Silent_p.K826K	NM_016018.4	NP_057102.4	A8MW92	P20L1_HUMAN	PHD finger protein 20-like 1	851							nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(1)|lung(10)|ovary(2)	15	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			TGCCCCTAAAAATGGAAGGAA	0.403													4	50					0	0	1	0	0	G	133854925	A	G	133854925	2	3	81	1	0	0	0	0	0	0	0	1	11880	11	1	3		3	PHF20L1	8	133854925	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	32	133854925	12509097	6976	10592											
TG	7038	broad.mit.edu	37	8	133899498	133899498	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:133899498G>T	ENST00000220616.4	+	9	1921	c.1881G>T	c.(1879-1881)gaG>gaT	p.E627D	TG_ENST00000377869.1_Missense_Mutation_p.E627D	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	627	Thyroglobulin type-1 5.				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		GAAGCTATGAGGATGTCCAAT	0.522													7	74					1.06961e-07	1.25755e-07	1	1	0	T	133899498	G	T	133899498	3	4	81	1	0	0	0	0	1	0	0	0	15873	991	35	4	1915	4	TG	8	133899498	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	44573	133899498	12464524	6977	10593											
TG	7038	broad.mit.edu	37	8	133900548	133900548	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:133900548C>T	ENST00000220616.4	+	10	2536	c.2496C>T	c.(2494-2496)gtC>gtT	p.V832V	TG_ENST00000377869.1_Silent_p.V832V	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	832	Thyroglobulin type-1 7.				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		AGCAAGATGTCTTCCCGGTGC	0.527													9	40					0	0	1	0	0	T	133900548	C	T	133900548	2	4	81	1	0	0	0	0	0	0	0	1	15873	900	32	2		2	TG	8	133900548	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1050	133900548	12463474	6978	10594											
TG	7038	broad.mit.edu	37	8	133935689	133935689	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:133935689C>T	ENST00000220616.4	+	22	4675	c.4635C>T	c.(4633-4635)gaC>gaT	p.D1545D	TG_ENST00000542445.1_5'UTR|TG_ENST00000377869.1_Intron	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1545	Thyroglobulin type-1 11.				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	p.D1545D(1)		NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		TCTGTGTGGACGGCGAGGGGC	0.592													23	42					0	0	1	0	0	T	133935689	C	T	133935689	2	4	81	1	0	0	0	0	0	0	0	1	15873	535	19	1		1	TG	8	133935689	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	35141	133935689	12428333	6979	10595											
TG	7038	broad.mit.edu	37	8	133961178	133961178	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:133961178G>T	ENST00000220616.4	+	27	5431	c.5391G>T	c.(5389-5391)gaG>gaT	p.E1797D	TG_ENST00000542445.1_Missense_Mutation_p.E167D|TG_ENST00000377869.1_Missense_Mutation_p.E1740D	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1797					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		GAGACCAGGAGTTCATCAAGA	0.478													32	62					6.00712e-18	7.77549e-18	1	1	0	T	133961178	G	T	133961178	3	4	81	1	0	0	0	0	1	0	0	0	15873	1020	36	4	5497	4	TG	8	133961178	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	25489	133961178	12402844	6980	10596											
TG	7038	broad.mit.edu	37	8	134024203	134024203	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:134024203T>G	ENST00000220616.4	+	36	6360	c.6320T>G	c.(6319-6321)aTt>aGt	p.I2107S	TG_ENST00000522523.1_3'UTR|TG_ENST00000542445.1_Missense_Mutation_p.I477S|TG_ENST00000519543.1_Missense_Mutation_p.I240S|TG_ENST00000377869.1_Missense_Mutation_p.I2050S	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	2107					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		GATCCATCCATTAGGCACTTT	0.537													34	265					0	0	1	0	0	G	134024203	T	G	134024203	3	3	81	1	0	0	0	0	1	0	0	0	15873	1493	52	4	6462	4	TG	8	134024203	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	63025	134024203	12339819	6981	10597											
SLA	6503	broad.mit.edu	37	8	134050923	134050923	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:134050923C>A	ENST00000338087.5	-	9	1496	c.677G>T	c.(676-678)aGc>aTc	p.S226I	SLA_ENST00000524345.1_Missense_Mutation_p.S118I|TG_ENST00000220616.4_Intron|SLA_ENST00000427060.2_Missense_Mutation_p.S266I|TG_ENST00000542445.1_Intron|SLA_ENST00000395352.3_Missense_Mutation_p.S243I|SLA_ENST00000517648.1_Missense_Mutation_p.S199I|TG_ENST00000519543.1_Intron|TG_ENST00000377869.1_Intron	NM_001045556.2	NP_001039021.1	Q13239	SLAP1_HUMAN	Src-like-adaptor	226	SLA C-terminal.					endosome	SH3/SH2 adaptor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(6)|prostate(1)|skin(1)	17	all_epithelial(106;3.51e-21)|Lung NSC(106;4.24e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0279)|Breast(495;0.037)	BRCA - Breast invasive adenocarcinoma(115;0.000701)			AAGGCCATAGCTGAAAAGGGA	0.512													6	40					3.59834e-05	3.99423e-05	1	1	0	A	134050923	C	A	134050923	3	1	81	1	0	0	0	0	1	0	0	0	14418	797	28	4	157	4	SLA	8	134050923	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	26720	134050923	12313099	6982	10598											
WISP1	8840	broad.mit.edu	37	8	134225108	134225108	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:134225108C>T	ENST00000250160.6	+	2	177	c.71C>T	c.(70-72)gCc>gTc	p.A24V	WISP1_ENST00000220856.6_Splice_Site_p.A24V|WISP1_ENST00000519433.1_Intron|WISP1_ENST00000377863.2_Intron|WISP1_ENST00000517423.1_Splice_Site_p.A24V	NM_003882.3	NP_003873.1	O95388	WISP1_HUMAN	WNT1 inducible signaling pathway protein 1	24					cell adhesion|cell-cell signaling|regulation of cell growth|Wnt receptor signaling pathway	extracellular region|soluble fraction	insulin-like growth factor binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	21	all_epithelial(106;5.39e-23)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0107)			CCCCCGCAGGCCCTCTCTCCA	0.617													3	3					0	0	1	0	0	T	134225108	C	T	134225108	5	4	81	1	0	0	0	0	0	0	1	0	17432	753	26	2	77	2	WISP1	8	134225108	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	174185	134225108	12138914	6983	10599											
ST3GAL1	6482	broad.mit.edu	37	8	134488066	134488066	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:134488066G>A	ENST00000319914.5	-	4	1229	c.202C>T	c.(202-204)Cgc>Tgc	p.R68C	ST3GAL1_ENST00000399640.2_Missense_Mutation_p.R68C|ST3GAL1_ENST00000521180.1_Missense_Mutation_p.R68C|ST3GAL1_ENST00000522652.1_Missense_Mutation_p.R68C			Q11201	SIA4A_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 1	68					protein glycosylation	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,3-sialyltransferase activity			endometrium(3)|large_intestine(2)|lung(11)|prostate(1)	17	all_epithelial(106;1.53e-23)|Lung NSC(106;3.15e-07)|all_lung(105;1.26e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.00721)			GAGAGCTTGCGCTGCCCGATG	0.612													11	12					0	0	1	0	0	A	134488066	G	A	134488066	3	1	81	1	0	0	0	0	1	0	0	0	15270	1087	38	1	844	1	ST3GAL1	8	134488066	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	262958	134488066	11875956	6984	10600											
ZFAT	57623	broad.mit.edu	37	8	135524755	135524755	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:135524755C>T	ENST00000520727.1	-	15	3587	c.3288G>A	c.(3286-3288)gtG>gtA	p.V1096V	ZFAT_ENST00000429442.2_Silent_p.V1096V|ZFAT_ENST00000523399.1_Silent_p.V1046V|ZFAT_ENST00000520356.1_Intron|ZFAT_ENST00000520214.1_Silent_p.V1096V|ZFAT_ENST00000377838.3_Silent_p.V1108V	NM_001029939.3	NP_001025110.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	1108					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			GGAGCGCGGCCACCGCTGCCT	0.527													55	98					0	0	1	0	0	T	135524755	C	T	135524755	2	4	81	1	0	0	0	0	0	0	0	1	17690	581	21	2		2	ZFAT	8	135524755	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1036689	135524755	10839267	6985	10601											
ZFAT	57623	broad.mit.edu	37	8	135614391	135614391	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:135614391G>A	ENST00000520727.1	-	7	1834	c.1535C>T	c.(1534-1536)gCc>gTc	p.A512V	ZFAT_ENST00000429442.2_Missense_Mutation_p.A512V|ZFAT_ENST00000523399.1_Missense_Mutation_p.A462V|ZFAT_ENST00000520356.1_Missense_Mutation_p.A512V|ZFAT_ENST00000520214.1_Missense_Mutation_p.A512V|ZFAT_ENST00000377838.3_Missense_Mutation_p.A524V	NM_001029939.3	NP_001025110.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	524					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			GCCCTGGAGGGCAAACTCCTC	0.622													6	10					0	0	1	0	0	A	135614391	G	A	135614391	3	1	81	1	0	0	0	0	1	0	0	0	17690	1203	42	2	2204	2	ZFAT	8	135614391	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	89636	135614391	10749631	6986	10602											
ZFAT	57623	broad.mit.edu	37	8	135649810	135649810	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:135649810G>A	ENST00000520727.1	-	4	605	c.306C>T	c.(304-306)agC>agT	p.S102S	ZFAT_ENST00000429442.2_Silent_p.S102S|ZFAT_ENST00000523399.1_Silent_p.S114S|ZFAT_ENST00000520356.1_Silent_p.S102S|ZFAT_ENST00000520214.1_Silent_p.S102S|ZFAT_ENST00000377838.3_Silent_p.S114S	NM_001029939.3	NP_001025110.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	114			P -> S (in dbSNP:rs12541381).		regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			ACTCCAAGCTGCTTGGAGGCA	0.572													16	31					0	0	1	0	0	A	135649810	G	A	135649810	2	1	81	1	0	0	0	0	0	0	0	1	17690	1310	46	2		2	ZFAT	8	135649810	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	35419	135649810	10714212	6987	10603											
FAM135B	51059	broad.mit.edu	37	8	139155321	139155321	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:139155321G>A	ENST00000395297.1	-	16	3742	c.3572C>T	c.(3571-3573)aCg>aTg	p.T1191M		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	1191										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			TAACCGATCCGTCATAGTATC	0.463										HNSCC(54;0.14)			19	24					0	0	1	0	0	A	139155321	G	A	139155321	3	1	81	1	0	0	0	0	1	0	0	0	5480	1145	40	1	668	1	FAM135B	8	139155321	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	3505511	139155321	7208701	6988	10604											
FAM135B	51059	broad.mit.edu	37	8	139158255	139158255	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:139158255C>T	ENST00000395297.1	-	15	3657	c.3487G>A	c.(3487-3489)Gaa>Aaa	p.E1163K		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	1163								p.E1163*(4)		NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			AGCCCCAGTTCTATGAAAGTC	0.448										HNSCC(54;0.14)			28	49					0	0	1	0	0	T	139158255	C	T	139158255	3	4	81	1	0	0	0	0	1	0	0	0	5480	922	32	2	757	2	FAM135B	8	139158255	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2934	139158255	7205767	6989	10605											
COL22A1	169044	broad.mit.edu	37	8	139788214	139788214	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:139788214C>A	ENST00000303045.6	-	16	2244	c.1798G>T	c.(1798-1800)Gaa>Taa	p.E600*	COL22A1_ENST00000435777.1_Nonsense_Mutation_p.E600*	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	600	Collagen-like 3.|Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			AATACCTTTTCTCCTCGAGTT	0.483										HNSCC(7;0.00092)			26	62					9.39395e-14	1.1871e-13	1	1	0	A	139788214	C	A	139788214	4	1	81	1	0	0	0	0	0	1	0	0	3704	922	32	4	3282	4	COL22A1	8	139788214	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	629959	139788214	6575808	6990	10606											
KCNK9	51305	broad.mit.edu	37	8	140631313	140631313	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:140631313C>T	ENST00000520439.1	-	2	376	c.313G>A	c.(313-315)Gcg>Acg	p.A105T	KCNK9_ENST00000303015.1_Missense_Mutation_p.A105T	NM_001282534.1	NP_001269463.1	Q9NPC2	KCNK9_HUMAN	potassium channel, subfamily K, member 9	105						integral to membrane|membrane fraction	potassium channel activity|voltage-gated ion channel activity			NS(1)|endometrium(9)|kidney(1)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)	43	all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;0.134)	BRCA - Breast invasive adenocarcinoma(115;0.0855)			GCCTTGCCCGCATCGGTGCCA	0.607													9	17					0	0	1	0	0	T	140631313	C	T	140631313	3	4	81	1	0	0	0	0	1	0	0	0	8116	710	25	2	815	2	KCNK9	8	140631313	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	843099	140631313	5732709	6991	10607											
TRAPPC9	83696	broad.mit.edu	37	8	141381153	141381153	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:141381153C>T	ENST00000389328.4	-	8	1569	c.1555G>A	c.(1555-1557)Gcg>Acg	p.A519T	TRAPPC9_ENST00000438773.2_Missense_Mutation_p.A421T|TRAPPC9_ENST00000389327.3_Missense_Mutation_p.A412T	NM_031466.5	NP_113654.4	Q96Q05	TPPC9_HUMAN	trafficking protein particle complex 9	421					cell differentiation	endoplasmic reticulum|Golgi apparatus				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	47						CCAGGCTCCGCGATGCTTGGG	0.597													25	41					0	0	1	0	0	T	141381153	C	T	141381153	3	4	81	1	0	0	0	0	1	0	0	0	16526	768	27	1	2249	1	TRAPPC9	8	141381153	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	749840	141381153	4982869	6992	10608											
TRAPPC9	83696	broad.mit.edu	37	8	141381168	141381168	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:141381168C>T	ENST00000389328.4	-	8	1554	c.1540G>A	c.(1540-1542)Gtg>Atg	p.V514M	TRAPPC9_ENST00000438773.2_Missense_Mutation_p.V416M|TRAPPC9_ENST00000389327.3_Missense_Mutation_p.V407M	NM_031466.5	NP_113654.4	Q96Q05	TPPC9_HUMAN	trafficking protein particle complex 9	416					cell differentiation	endoplasmic reticulum|Golgi apparatus				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	47						CTTGGGGCCACGCACTGCATG	0.587													4	48					0	0	1	0	0	T	141381168	C	T	141381168	3	4	81	1	0	0	0	0	1	0	0	0	16526	536	19	1	2264	1	TRAPPC9	8	141381168	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	15	141381168	4982854	6993	10609											
TRAPPC9	83696	broad.mit.edu	37	8	141381188	141381188	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:141381188C>T	ENST00000389328.4	-	8	1534	c.1520G>A	c.(1519-1521)cGc>cAc	p.R507H	TRAPPC9_ENST00000438773.2_Missense_Mutation_p.R409H|TRAPPC9_ENST00000389327.3_Missense_Mutation_p.R400H	NM_031466.5	NP_113654.4	Q96Q05	TPPC9_HUMAN	trafficking protein particle complex 9	409					cell differentiation	endoplasmic reticulum|Golgi apparatus				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	47						GGCGGCCACGCGCTTGAAGAA	0.592													16	31					0	0	1	0	0	T	141381188	C	T	141381188	3	4	81	1	0	0	0	0	1	0	0	0	16526	768	27	1	2284	1	TRAPPC9	8	141381188	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	20	141381188	4982834	6994	10610											
PTK2	5747	broad.mit.edu	37	8	141711023	141711023	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:141711023A>G	ENST00000522684.1	-	26	2695	c.2466T>C	c.(2464-2466)gaT>gaC	p.D822D	PTK2_ENST00000430260.2_Silent_p.D132D|PTK2_ENST00000521059.1_Silent_p.D822D|PTK2_ENST00000535192.1_Silent_p.D776D|PTK2_ENST00000538769.1_Silent_p.D490D|PTK2_ENST00000519419.1_Silent_p.D866D|PTK2_ENST00000517887.1_Silent_p.D866D|PTK2_ENST00000340930.3_Silent_p.D822D|PTK2_ENST00000395218.2_Silent_p.D822D|PTK2_ENST00000519465.1_Silent_p.D450D	NM_153831.3	NP_722560.1	Q05397	FAK1_HUMAN	protein tyrosine kinase 2	822	Interaction with TGFB1I1.				axon guidance|blood coagulation|cellular component disassembly involved in apoptosis|ephrin receptor signaling pathway|growth hormone receptor signaling pathway|integrin-mediated signaling pathway|peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of cell adhesion mediated by integrin|signal complex assembly	cytoskeleton|cytosol|focal adhesion	ATP binding|JUN kinase binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(6)|lung(23)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	48	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.137)			GCCAGCGCTGATCTTCTTCCA	0.438													31	58					0	0	1	0	0	G	141711023	A	G	141711023	2	3	81	1	0	0	0	0	0	0	0	1	12812	330	12	3		3	PTK2	8	141711023	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	329835	141711023	4652999	6995	10611											
PTK2	5747	broad.mit.edu	37	8	141889570	141889570	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:141889570T>A	ENST00000519881.1	-	3	553	c.362A>T	c.(361-363)aAg>aTg	p.K121M	PTK2_ENST00000521059.1_Splice_Site_p.K121I|PTK2_ENST00000535192.1_Splice_Site_p.K121I|PTK2_ENST00000519419.1_Splice_Site_p.K165I|PTK2_ENST00000517887.1_Splice_Site_p.K165I|PTK2_ENST00000520892.1_Missense_Mutation_p.K121M|PTK2_ENST00000522684.1_Splice_Site_p.K121I|PTK2_ENST00000340930.3_Splice_Site_p.K121I|PTK2_ENST00000395218.2_Splice_Site_p.K121I			Q05397	FAK1_HUMAN	protein tyrosine kinase 2	121	FERM.				axon guidance|blood coagulation|cellular component disassembly involved in apoptosis|ephrin receptor signaling pathway|growth hormone receptor signaling pathway|integrin-mediated signaling pathway|peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of cell adhesion mediated by integrin|signal complex assembly	cytoskeleton|cytosol|focal adhesion	ATP binding|JUN kinase binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(6)|lung(23)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	48	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.137)			TGTATCTTACTTCCACTCCTC	0.438													62	96					0	0	1	0	0	A	141889570	T	A	141889570	3	1	81	1	0	0	0	0	1	0	0	0	12812	1623	56	5	2912	5	PTK2	8	141889570	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	178547	141889570	4474452	6996	10612											
DENND3	22898	broad.mit.edu	37	8	142175310	142175310	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:142175310C>A	ENST00000519811.1	+	11	1545	c.1475C>A	c.(1474-1476)tCt>tAt	p.S492Y	DENND3_ENST00000424248.1_Missense_Mutation_p.S360Y|DENND3_ENST00000262585.2_Missense_Mutation_p.S412Y			A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	412										breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			ATGTTCCATTCTTTTCTTAAA	0.557													40	50					3.43241e-23	4.51968e-23	1	1	0	A	142175310	C	A	142175310	3	1	81	1	0	0	0	0	1	0	0	0	4460	913	32	4	1273	4	DENND3	8	142175310	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	285740	142175310	4188712	6997	10613											
DENND3	22898	broad.mit.edu	37	8	142176404	142176404	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:142176404C>T	ENST00000519811.1	+	12	1739	c.1669C>T	c.(1669-1671)Cag>Tag	p.Q557*	DENND3_ENST00000424248.1_Nonsense_Mutation_p.Q425*|DENND3_ENST00000262585.2_Nonsense_Mutation_p.Q477*			A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	477										breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			GCCCAACCTGCAGGACATTGC	0.642													10	114					0	0	1	0	0	T	142176404	C	T	142176404	4	4	81	1	0	0	0	0	0	1	0	0	4460	711	25	2	1471	2	DENND3	8	142176404	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1094	142176404	4187618	6998	10614											
PTP4A3	11156	broad.mit.edu	37	8	142435204	142435204	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:142435204C>T	ENST00000520105.1	+	3	1105	c.162C>T	c.(160-162)gaC>gaT	p.D54D	PTP4A3_ENST00000524028.1_Intron|PTP4A3_ENST00000521578.1_Silent_p.D54D|PTP4A3_ENST00000349124.1_Silent_p.D54D|PTP4A3_ENST00000329397.1_Silent_p.D54D			O75365	TP4A3_HUMAN	protein tyrosine phosphatase type IVA, member 3	54						early endosome|plasma membrane	identical protein binding|prenylated protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			endometrium(2)|large_intestine(1)|lung(3)	6	all_cancers(97;2.55e-15)|all_epithelial(106;1.39e-13)|Lung NSC(106;2.07e-05)|all_lung(105;2.89e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0474)			TGACCTATGACAAAACGCCGC	0.672													4	17					0	0	1	0	0	T	142435204	C	T	142435204	2	4	81	1	0	0	0	0	0	0	0	1	12822	477	17	2		2	PTP4A3	8	142435204	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	258800	142435204	3928818	6999	10615											
TSNARE1	203062	broad.mit.edu	37	8	143310941	143310941	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:143310941C>A	ENST00000524325.1	-	13	1619		c.e13-1		TSNARE1_ENST00000520166.1_Splice_Site|TSNARE1_ENST00000307180.3_Splice_Site			Q96NA8	TSNA1_HUMAN	t-SNARE domain containing 1						vesicle-mediated transport	integral to membrane				breast(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(6)|ovary(2)|stomach(2)|urinary_tract(1)	20	all_cancers(97;7.39e-11)|all_epithelial(106;8.98e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000332)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					GTCTCTGGAGCTGGGAGAGAG	0.537													11	20					3.86212e-05	4.27865e-05	1	1	0	A	143310941	C	A	143310941	5	1	81	1	0	0	0	0	0	0	1	0	16691	811	28	4	99	4	TSNARE1	8	143310941	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	875737	143310941	3053081	7000	10616											
BAI1	575	broad.mit.edu	37	8	143623496	143623496	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:143623496G>A	ENST00000517894.1	+	28	4795	c.3901G>A	c.(3901-3903)Gac>Aac	p.D1301N	BAI1_ENST00000323289.5_Missense_Mutation_p.D1301N			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	1301					axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					GCCCCTGCCCGACTTCCCCAA	0.647													16	18					0	0	1	0	0	A	143623496	G	A	143623496	3	1	81	1	0	0	0	0	1	0	0	0	1296	1058	37	1	4007	1	BAI1	8	143623496	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	312555	143623496	2740526	7001	10617											
LY6K	54742	broad.mit.edu	37	8	143784766	143784766	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:143784766G>A	ENST00000292430.6	+	3	892	c.475G>A	c.(475-477)Gca>Aca	p.A159T	LY6K_ENST00000519390.1_3'UTR|LY6K_ENST00000522591.1_3'UTR|LY6K_ENST00000519387.1_3'UTR|LY6K_ENST00000561179.1_Missense_Mutation_p.A217T|CTD-2292P10.4_ENST00000520572.1_RNA			Q17RY6	LY6K_HUMAN	lymphocyte antigen 6 complex, locus K	159						anchored to membrane|cytoplasm|extracellular region|nucleolus|plasma membrane				NS(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)	10	all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					GGCCTCCATTGCAGCCGGCCT	0.577													9	19					0	0	1	0	0	A	143784766	G	A	143784766	3	1	81	1	0	0	0	0	1	0	0	0	9144	1319	46	2	635	2	LY6K	8	143784766	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	161270	143784766	2579256	7002	10618											
GML	2765	broad.mit.edu	37	8	143922552	143922552	+	Missense_Mutation	SNP	G	G	A	rs45437692		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:143922552G>A	ENST00000220940.1	+	3	182	c.92G>A	c.(91-93)tGc>tAc	p.C31Y		NM_002066.2	NP_002057.1	Q99445	GML_HUMAN	glycosylphosphatidylinositol anchored molecule like	31	UPAR/Ly6.				apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|negative regulation of cell proliferation	anchored to membrane|extrinsic to membrane|plasma membrane				NS(1)|central_nervous_system(2)|endometrium(1)|large_intestine(6)|lung(8)	18	all_cancers(97;4.26e-11)|all_epithelial(106;1.85e-08)|Lung NSC(106;0.000274)|all_lung(105;0.000755)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					AGTTTGAGATGCCATGACTGT	0.478													25	43					0	0	1	0	0	A	143922552	G	A	143922552	3	1	81	1	0	0	0	0	1	0	0	0	6534	1319	46	2	98	2	GML	8	143922552	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	137786	143922552	2441470	7003	10619											
CYP11B1	1584	broad.mit.edu	37	8	143955889	143955889	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:143955889A>G	ENST00000292427.4	-	9	1444	c.1412T>C	c.(1411-1413)cTc>cCc	p.L471P	CYP11B1_ENST00000517471.1_Missense_Mutation_p.L405P|CYP11B1_ENST00000377675.3_Missense_Mutation_p.L542P	NM_000497.3	NP_000488.3	P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 1	471					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process	mitochondrial inner membrane	electron carrier activity|steroid 11-beta-monooxygenase activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Mitotane(DB00648)	CTCCACCTGGAGGTGTTTCAG	0.532									Familial Hyperaldosteronism type I				7	50					0	0	1	0	0	G	143955889	A	G	143955889	3	3	81	1	0	0	0	0	1	0	0	0	4168	304	11	3	103	3	CYP11B1	8	143955889	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	33337	143955889	2408133	7004	10620											
CYP11B1	1584	broad.mit.edu	37	8	143957747	143957747	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:143957747G>A	ENST00000292427.4	-	5	896	c.864C>T	c.(862-864)agC>agT	p.S288S	CYP11B1_ENST00000517471.1_Silent_p.S288S|CYP11B1_ENST00000377675.3_Silent_p.S359S	NM_000497.3	NP_000488.3	P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 1	288					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process	mitochondrial inner membrane	electron carrier activity|steroid 11-beta-monooxygenase activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Mitotane(DB00648)	CCGCCACGATGCTGGTGTACT	0.587									Familial Hyperaldosteronism type I				8	14					0	0	1	0	0	A	143957747	G	A	143957747	2	1	81	1	0	0	0	0	0	0	0	1	4168	1310	46	2		2	CYP11B1	8	143957747	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1858	143957747	2406275	7005	10621											
LY6E	4061	broad.mit.edu	37	8	144102376	144102376	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:144102376T>G	ENST00000520466.1	+	3	423	c.20T>G	c.(19-21)gTg>gGg	p.V7G	LY6E_ENST00000522024.1_Missense_Mutation_p.V7G|LY6E_ENST00000522971.1_Missense_Mutation_p.V7G|LY6E_ENST00000519546.1_Missense_Mutation_p.V7G|LY6E_ENST00000519611.1_Missense_Mutation_p.V7G|LY6E_ENST00000292494.6_Missense_Mutation_p.V7G|LY6E_ENST00000523847.1_Missense_Mutation_p.V7G|LY6E_ENST00000520531.1_Missense_Mutation_p.V7G|LY6E_ENST00000521699.1_Missense_Mutation_p.V7G|LY6E_ENST00000522528.1_Missense_Mutation_p.V7G|LY6E_ENST00000521003.1_Missense_Mutation_p.V7G|LY6E_ENST00000517503.1_Missense_Mutation_p.S101R|LY6E_ENST00000521182.1_Missense_Mutation_p.V7G|LY6E_ENST00000429120.2_Missense_Mutation_p.V7G			Q16553	LY6E_HUMAN	lymphocyte antigen 6 complex, locus E	7					cell surface receptor linked signaling pathway	anchored to membrane|integral to plasma membrane				endometrium(1)|kidney(3)|large_intestine(2)|lung(1)	7	all_cancers(97;1.94e-10)|all_epithelial(106;1.22e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					TTCTTGCCAGTGCTGCTGGCT	0.612													19	30					0	0	1	0	0	G	144102376	T	G	144102376	3	3	81	1	0	0	0	0	1	0	0	0	9137	1696	59	5	22	5	LY6E	8	144102376	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	144629	144102376	2261646	7006	10622											
TOP1MT	116447	broad.mit.edu	37	8	144400187	144400187	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:144400187C>T	ENST00000523676.1	-	10	1327		c.e10+1		TOP1MT_ENST00000329245.4_Splice_Site|TOP1MT_ENST00000521193.1_Splice_Site|TOP1MT_ENST00000519148.1_Splice_Site			Q969P6	TOP1M_HUMAN	topoisomerase (DNA) I, mitochondrial						DNA topological change	chromosome|mitochondrial nucleoid	ATP binding|chromatin DNA binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity			endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	23	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)		Irinotecan(DB00762)|Topotecan(DB01030)	AGCCGGCTTACGGTCAGCCTG	0.582													14	25					0	0	1	0	0	T	144400187	C	T	144400187	5	4	81	1	0	0	0	0	0	0	1	0	16425	550	19	1	613	1	TOP1MT	8	144400187	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	297811	144400187	1963835	7007	10623											
RHPN1	114822	broad.mit.edu	37	8	144459625	144459625	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:144459625G>T	ENST00000289013.6	+	4	482	c.381G>T	c.(379-381)aaG>aaT	p.K127N		NM_052924.2	NP_443156.2	Q8TCX5	RHPN1_HUMAN	rhophilin, Rho GTPase binding protein 1	127	BRO1.				signal transduction	intracellular				endometrium(1)|large_intestine(1)|lung(7)	9	all_cancers(97;7.39e-11)|all_epithelial(106;5.44e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.156)			CACCGCTGAAGGTAGGTACTG	0.582													5	28					0.00116845	0.00124301	1	1	0	T	144459625	G	T	144459625	5	4	81	1	0	0	0	0	0	0	1	0	13400	1014	35	4	395	4	RHPN1	8	144459625	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	59438	144459625	1904397	7008	10624											
ZC3H3	23144	broad.mit.edu	37	8	144621170	144621170	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:144621170C>T	ENST00000262577.5	-	2	398	c.367G>A	c.(367-369)Gtg>Atg	p.V123M		NM_015117.2	NP_055932.2	Q8IXZ2	ZC3H3_HUMAN	zinc finger CCCH-type containing 3	123					mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus	nucleus	nucleic acid binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)			TTGATGACCACGTTCTGACCC	0.617													33	50					0	0	1	0	0	T	144621170	C	T	144621170	3	4	81	1	0	0	0	0	1	0	0	0	17628	536	19	1	2523	1	ZC3H3	8	144621170	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	161545	144621170	1742852	7009	10625											
ZC3H3	23144	broad.mit.edu	37	8	144621219	144621219	+	Silent	SNP	C	C	T	rs150401031	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:144621219C>T	ENST00000262577.5	-	2	349	c.318G>A	c.(316-318)ccG>ccA	p.P106P		NM_015117.2	NP_055932.2	Q8IXZ2	ZC3H3_HUMAN	zinc finger CCCH-type containing 3	106					mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus	nucleus	nucleic acid binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)			CATGCTGCTGCGGGACAGGAG	0.632													39	55					0	0	1	0	0	T	144621219	C	T	144621219	2	4	81	1	0	0	0	0	0	0	0	1	17628	755	27	1		1	ZC3H3	8	144621219	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	49	144621219	1742803	7010	10626											
EEF1D	1936	broad.mit.edu	37	8	144663400	144663400	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:144663400G>A	ENST00000532741.1	-	4	1764	c.1536C>T	c.(1534-1536)ggC>ggT	p.G512G	EEF1D_ENST00000528610.1_Splice_Site_p.G72G|EEF1D_ENST00000524624.1_Splice_Site_p.G72G|EEF1D_ENST00000529272.1_Splice_Site_p.G96G|EEF1D_ENST00000532400.1_Intron|EEF1D_ENST00000442189.2_Splice_Site_p.G462G|EEF1D_ENST00000531621.1_Intron|EEF1D_ENST00000423316.2_Splice_Site_p.G462G|EEF1D_ENST00000526838.1_Intron|EEF1D_ENST00000317198.6_Splice_Site_p.G96G|EEF1D_ENST00000419152.2_Splice_Site_p.G96G|EEF1D_ENST00000395119.3_Splice_Site_p.G96G			P29692	EF1D_HUMAN	eukaryotic translation elongation factor 1 delta (guanine nucleotide exchange protein)	96					positive regulation of I-kappaB kinase/NF-kappaB cascade	cytosol|eukaryotic translation elongation factor 1 complex	protein binding|signal transducer activity|translation elongation factor activity			breast(2)|cervix(1)|endometrium(1)|kidney(4)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)			GGGCCTCACCGCCACGCAGAC	0.687													4	28					0	0	1	0	0	A	144663400	G	A	144663400	5	1	81	1	0	0	0	0	0	0	1	0	4952	1101	38	1	577	1	EEF1D	8	144663400	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	42181	144663400	1700622	7011	10627											
TIGD5	84948	broad.mit.edu	37	8	144681088	144681088	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:144681088G>T	ENST00000321385.3	+	1	1015	c.868G>T	c.(868-870)Ggc>Tgc	p.G290C	TIGD5_ENST00000504548.2_Missense_Mutation_p.G339C			E7EWS2	E7EWS2_HUMAN	tigger transposable element derived 5	339					regulation of transcription, DNA-dependent	chromosome, centromeric region	DNA binding			NS(1)|lung(3)|ovary(1)|soft_tissue(1)|urinary_tract(1)	7	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)			ATTTGTCCCAGGCGTCAAACG	0.677													3	12					0.004672	0.00489345	1	1	0	T	144681088	G	T	144681088	3	4	81	1	0	0	0	0	1	0	0	0	15959	1000	35	4	1017	4	TIGD5	8	144681088	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	17688	144681088	1682934	7012	10628											
PYCRL	65263	broad.mit.edu	37	8	144689168	144689168	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:144689168G>T	ENST00000220966.6	-	3	356	c.327C>A	c.(325-327)atC>atA	p.I109I	PYCRL_ENST00000495276.1_5'UTR|PYCRL_ENST00000377579.3_5'UTR	NM_023078.3	NP_075566.2	Q53H96	P5CR3_HUMAN	pyrroline-5-carboxylate reductase-like	97					proline biosynthetic process		pyrroline-5-carboxylate reductase activity			central_nervous_system(1)|endometrium(1)|lung(2)|ovary(1)	5	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.17e-38)|Epithelial(56;7.17e-37)|all cancers(56;2.46e-32)|Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)			CGGACACCAAGATGTGTTCAG	0.612													8	45					0.000274275	0.000297259	1	1	0	T	144689168	G	T	144689168	2	4	81	1	0	0	0	0	0	0	0	1	12909	932	33	4		4	PYCRL	8	144689168	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	8080	144689168	1674854	7013	10629											
ZNF707	286075	broad.mit.edu	37	8	144775881	144775881	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:144775881T>C	ENST00000532205.1	+	8	1196	c.297T>C	c.(295-297)caT>caC	p.H99H	ZNF707_ENST00000418203.2_Silent_p.H99H|ZNF707_ENST00000358656.4_Silent_p.H99H|ZNF707_ENST00000532158.1_Silent_p.H99H|ZNF707_ENST00000454097.1_Silent_p.H99H			Q96C28	ZN707_HUMAN	zinc finger protein 707	99					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			breast(1)	1	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;5.6e-41)|Epithelial(56;1.02e-39)|all cancers(56;9.65e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			CTTGTGATCATCCAGCTTGGG	0.592													10	17					0	0	1	0	0	C	144775881	T	C	144775881	2	2	81	1	0	0	0	0	0	0	0	1	18167	1432	50	3		3	ZNF707	8	144775881	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	86713	144775881	1588141	7014	10630											
ZNF707	286075	broad.mit.edu	37	8	144776283	144776283	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:144776283C>T	ENST00000532205.1	+	8	1598	c.699C>T	c.(697-699)tgC>tgT	p.C233C	ZNF707_ENST00000418203.2_Silent_p.C233C|ZNF707_ENST00000358656.4_Silent_p.C233C|ZNF707_ENST00000532158.1_Silent_p.C233C|ZNF707_ENST00000454097.1_Silent_p.C233C			Q96C28	ZN707_HUMAN	zinc finger protein 707	233					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			breast(1)	1	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;5.6e-41)|Epithelial(56;1.02e-39)|all cancers(56;9.65e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			AGCCCTTCTGCTGCGAGGCCT	0.662													5	11					0	0	1	0	0	T	144776283	C	T	144776283	2	4	81	1	0	0	0	0	0	0	0	1	18167	805	28	2		2	ZNF707	8	144776283	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	402	144776283	1587739	7015	10631											
FAM83H	286077	broad.mit.edu	37	8	144808233	144808233	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:144808233T>C	ENST00000388913.3	-	5	3523	c.3398A>G	c.(3397-3399)tAc>tGc	p.Y1133C		NM_198488.3	NP_940890	Q6ZRV2	FA83H_HUMAN	family with sequence similarity 83, member H	1133					biomineral tissue development					central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1)	21	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			GAAGCGGCTGTACACGCGCTT	0.701													3	21					0	0	1	0	0	C	144808233	T	C	144808233	3	2	81	1	0	0	0	0	1	0	0	0	5672	1638	57	3	145	3	FAM83H	8	144808233	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	31950	144808233	1555789	7016	10632											
FAM83H	286077	broad.mit.edu	37	8	144808666	144808666	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:144808666C>T	ENST00000388913.3	-	5	3090	c.2965G>A	c.(2965-2967)Gtg>Atg	p.V989M		NM_198488.3	NP_940890	Q6ZRV2	FA83H_HUMAN	family with sequence similarity 83, member H	989					biomineral tissue development					central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1)	21	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			TCCTGCGGCACTGGGAAGCCA	0.697													5	10					0	0	1	0	0	T	144808666	C	T	144808666	3	4	81	1	0	0	0	0	1	0	0	0	5672	565	20	2	578	2	FAM83H	8	144808666	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	433	144808666	1555356	7017	10633											
SCRIB	23513	broad.mit.edu	37	8	144893380	144893380	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:144893380C>T	ENST00000356994.2	-	10	1048	c.1042G>A	c.(1042-1044)Gcc>Acc	p.A348T	SCRIB_ENST00000320476.3_Missense_Mutation_p.A348T|SCRIB_ENST00000377533.3_Missense_Mutation_p.A267T	NM_182706.4	NP_874365	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	348	Sufficient for targeting to adherens junction and to inhibit cell proliferation.				activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	cell-cell adherens junction|Scrib-APC-beta-catenin complex	protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			GGCAGGACGGCCAGGCGGTTG	0.687													8	5					0	0	1	0	0	T	144893380	C	T	144893380	3	4	81	1	0	0	0	0	1	0	0	0	13991	739	26	2	4037	2	SCRIB	8	144893380	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	84714	144893380	1470642	7018	10634											
PUF60	22827	broad.mit.edu	37	8	144898851	144898851	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:144898851C>A	ENST00000526683.1	-	12	2074	c.1519G>T	c.(1519-1521)Gag>Tag	p.E507*	PUF60_ENST00000453551.2_Nonsense_Mutation_p.E464*|PUF60_ENST00000349157.6_Nonsense_Mutation_p.E490*|PUF60_ENST00000527197.1_Nonsense_Mutation_p.E461*|PUF60_ENST00000456095.2_Nonsense_Mutation_p.E478*|PUF60_ENST00000313352.7_Nonsense_Mutation_p.E447*	NM_001271098.1|NM_078480.2	NP_001258027.1|NP_510965.1	Q9UHX1	PUF60_HUMAN	poly-U binding splicing factor 60KDa	507	Inhibits homodimerization.|Inhibits transcriptional repression, interaction with ERCC3 and apoptosis induction.|RRM 3; atypical.				apoptosis|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	nucleus|ribonucleoprotein complex	DNA binding|nucleotide binding|protein binding|RNA binding			NS(1)|endometrium(1)|kidney(3)|lung(7)|prostate(2)	14	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;6.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			TCTGCATCCTCCTCCTCGCCT	0.542													47	162					3.39706e-21	4.44502e-21	1	1	0	A	144898851	C	A	144898851	4	1	81	1	0	0	0	0	0	1	0	0	12876	864	30	5	164	5	PUF60	8	144898851	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	5471	144898851	1465171	7019	10635											
EPPK1	83481	broad.mit.edu	37	8	144940270	144940270	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:144940270C>A	ENST00000525985.1	-	2	7223	c.7152G>T	c.(7150-7152)aaG>aaT	p.K2384N				P58107	EPIPL_HUMAN	epiplakin 1	2384						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)			CGAAGAAGCCCTTGGTGTCGT	0.647													19	220					1.96292e-10	2.40212e-10	1	1	0	A	144940270	C	A	144940270	3	1	81	1	0	0	0	0	1	0	0	0	5218	680	24	4	114	4	EPPK1	8	144940270	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	41419	144940270	1423752	7020	10636											
EPPK1	83481	broad.mit.edu	37	8	144940549	144940549	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:144940549C>T	ENST00000525985.1	-	2	6944	c.6873G>A	c.(6871-6873)gtG>gtA	p.V2291V				P58107	EPIPL_HUMAN	epiplakin 1	2291						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)			CGCCGCCCACCACGCCCGCGG	0.721													7	42					0	0	1	0	0	T	144940549	C	T	144940549	2	4	81	1	0	0	0	0	0	0	0	1	5218	581	21	2		2	EPPK1	8	144940549	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	279	144940549	1423473	7021	10637											
EPPK1	83481	broad.mit.edu	37	8	144941327	144941327	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:144941327C>T	ENST00000525985.1	-	2	6166	c.6095G>A	c.(6094-6096)aGa>aAa	p.R2032K				P58107	EPIPL_HUMAN	epiplakin 1	2032						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)			ACAGCCCCGTCTGTAGGCTGT	0.602													20	21					0	0	1	0	0	T	144941327	C	T	144941327	3	4	81	1	0	0	0	0	1	0	0	0	5218	913	32	2	1171	2	EPPK1	8	144941327	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	778	144941327	1422695	7022	10638											
EPPK1	83481	broad.mit.edu	37	8	144941538	144941538	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:144941538C>T	ENST00000525985.1	-	2	5955	c.5884G>A	c.(5884-5886)Gag>Aag	p.E1962K				P58107	EPIPL_HUMAN	epiplakin 1	1962						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)			CGCAGCTCCTCGTTCACCAGG	0.652													32	48					0	0	1	0	0	T	144941538	C	T	144941538	3	4	81	1	0	0	0	0	1	0	0	0	5218	893	31	1	1382	1	EPPK1	8	144941538	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	211	144941538	1422484	7023	10639											
EPPK1	83481	broad.mit.edu	37	8	144943348	144943348	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:144943348C>T	ENST00000525985.1	-	2	4145	c.4074G>A	c.(4072-4074)gtG>gtA	p.V1358V				P58107	EPIPL_HUMAN	epiplakin 1	1358						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)			TGGCCAGCTGCACCTGCAGGA	0.677													9	10					0	0	1	0	0	T	144943348	C	T	144943348	2	4	81	1	0	0	0	0	0	0	0	1	5218	697	25	2		2	EPPK1	8	144943348	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1810	144943348	1420674	7024	10640											
EPPK1	83481	broad.mit.edu	37	8	144943428	144943428	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:144943428A>C	ENST00000525985.1	-	2	4065	c.3994T>G	c.(3994-3996)Tct>Gct	p.S1332A				P58107	EPIPL_HUMAN	epiplakin 1	1332						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)			GAGGCCCTAGAGTAGGGATCT	0.682													27	34					0	0	1	0	0	C	144943428	A	C	144943428	3	2	81	1	0	0	0	0	1	0	0	0	5218	304	11	5	3272	5	EPPK1	8	144943428	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	80	144943428	1420594	7025	10641											
EPPK1	83481	broad.mit.edu	37	8	144945427	144945427	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:144945427C>A	ENST00000525985.1	-	2	2066	c.1995G>T	c.(1993-1995)gaG>gaT	p.E665D				P58107	EPIPL_HUMAN	epiplakin 1	665						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)			TCAGTGCCTCCTCAACGGAGT	0.627													4	19					0.150653	0.152522	1	1	0	A	144945427	C	A	144945427	3	1	81	1	0	0	0	0	1	0	0	0	5218	680	24	4	5271	4	EPPK1	8	144945427	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1999	144945427	1418595	7026	10642											
EPPK1	83481	broad.mit.edu	37	8	144947316	144947316	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:144947316G>T	ENST00000525985.1	-	2	177	c.106C>A	c.(106-108)Ccc>Acc	p.P36T				P58107	EPIPL_HUMAN	epiplakin 1	36						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)			TGGGGCCTGGGGGGCGTGCCG	0.692													16	23					2.39187e-15	3.05109e-15	1	1	0	T	144947316	G	T	144947316	3	4	81	1	0	0	0	0	1	0	0	0	5218	1232	43	5	7160	5	EPPK1	8	144947316	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1889	144947316	1416706	7027	10643	46	2									
EPPK1	83481	broad.mit.edu	37	8	144947320	144947320	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:144947320C>T	ENST00000525985.1	-	2	173	c.102G>A	c.(100-102)acG>acA	p.T34T				P58107	EPIPL_HUMAN	epiplakin 1	34						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)			GCCTGGGGGGCGTGCCGGCTC	0.687													14	24					0	0	1	0	0	T	144947320	C	T	144947320	2	4	81	1	0	0	0	0	0	0	0	1	5218	755	27	1		1	EPPK1	8	144947320	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	4	144947320	1416702	7028	10644	46	2									
PLEC	5339	broad.mit.edu	37	8	144993745	144993745	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:144993745G>A	ENST00000322810.4	-	32	10824	c.10655C>T	c.(10654-10656)gCg>gTg	p.A3552V	PLEC_ENST00000398774.2_Missense_Mutation_p.A3383V|PLEC_ENST00000345136.3_Missense_Mutation_p.A3415V|PLEC_ENST00000436759.2_Missense_Mutation_p.A3442V|PLEC_ENST00000357649.2_Missense_Mutation_p.A3419V|PLEC_ENST00000354958.2_Missense_Mutation_p.A3393V|PLEC_ENST00000527096.1_Missense_Mutation_p.A3438V|PLEC_ENST00000354589.3_Missense_Mutation_p.A3415V|PLEC_ENST00000356346.3_Missense_Mutation_p.A3401V	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	3552	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CACCACGCCCGCCTTCACGGC	0.687													11	22					0	0	1	0	0	A	144993745	G	A	144993745	3	1	81	1	0	0	0	0	1	0	0	0	12100	1087	38	1	3403	1	PLEC	8	144993745	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	46425	144993745	1370277	7029	10645											
PLEC	5339	broad.mit.edu	37	8	144994814	144994814	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:144994814C>T	ENST00000322810.4	-	32	9755	c.9586G>A	c.(9586-9588)Gaa>Aaa	p.E3196K	PLEC_ENST00000398774.2_Missense_Mutation_p.E3027K|PLEC_ENST00000345136.3_Missense_Mutation_p.E3059K|PLEC_ENST00000436759.2_Missense_Mutation_p.E3086K|PLEC_ENST00000357649.2_Missense_Mutation_p.E3063K|PLEC_ENST00000354958.2_Missense_Mutation_p.E3037K|PLEC_ENST00000527096.1_Missense_Mutation_p.E3082K|PLEC_ENST00000354589.3_Missense_Mutation_p.E3059K|PLEC_ENST00000356346.3_Missense_Mutation_p.E3045K	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	3196	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GCCTGGGCTTCCAACAGGGCC	0.662													8	24					0	0	1	0	0	T	144994814	C	T	144994814	3	4	81	1	0	0	0	0	1	0	0	0	12100	864	30	2	4472	2	PLEC	8	144994814	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1069	144994814	1369208	7030	10646											
PLEC	5339	broad.mit.edu	37	8	144999605	144999605	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:144999605G>A	ENST00000322810.4	-	31	5072	c.4903C>T	c.(4903-4905)Cgc>Tgc	p.R1635C	PLEC_ENST00000398774.2_Missense_Mutation_p.R1466C|PLEC_ENST00000345136.3_Missense_Mutation_p.R1498C|PLEC_ENST00000436759.2_Missense_Mutation_p.R1525C|PLEC_ENST00000357649.2_Missense_Mutation_p.R1502C|PLEC_ENST00000354958.2_Missense_Mutation_p.R1476C|PLEC_ENST00000527096.1_Missense_Mutation_p.R1521C|PLEC_ENST00000354589.3_Missense_Mutation_p.R1498C|PLEC_ENST00000356346.3_Missense_Mutation_p.R1484C	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	1635	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CTCCGCAAGCGCTCGGCCTCC	0.731													4	8					0	0	1	0	0	A	144999605	G	A	144999605	3	1	81	1	0	0	0	0	1	0	0	0	12100	1087	38	1	9159	1	PLEC	8	144999605	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	4791	144999605	1364417	7031	10647											
PLEC	5339	broad.mit.edu	37	8	145001826	145001826	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:145001826G>A	ENST00000322810.4	-	27	4088	c.3919C>T	c.(3919-3921)Cgg>Tgg	p.R1307W	PLEC_ENST00000398774.2_Missense_Mutation_p.R1138W|PLEC_ENST00000345136.3_Missense_Mutation_p.R1170W|PLEC_ENST00000436759.2_Missense_Mutation_p.R1197W|PLEC_ENST00000357649.2_Missense_Mutation_p.R1174W|PLEC_ENST00000354958.2_Missense_Mutation_p.R1148W|PLEC_ENST00000527096.1_Missense_Mutation_p.R1193W|PLEC_ENST00000354589.3_Missense_Mutation_p.R1170W|PLEC_ENST00000356346.3_Missense_Mutation_p.R1156W	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	1307	Globular 1.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						TCCACGTCCCGCTCCCCGTGC	0.741													3	5					0	0	1	0	0	A	145001826	G	A	145001826	3	1	81	1	0	0	0	0	1	0	0	0	12100	1086	38	1	10159	1	PLEC	8	145001826	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2221	145001826	1362196	7032	10648											
PLEC	5339	broad.mit.edu	37	8	145004373	145004373	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:145004373C>T	ENST00000322810.4	-	21	3131	c.2962G>A	c.(2962-2964)Gtg>Atg	p.V988M	PLEC_ENST00000398774.2_Missense_Mutation_p.V819M|PLEC_ENST00000345136.3_Missense_Mutation_p.V851M|PLEC_ENST00000436759.2_Missense_Mutation_p.V878M|PLEC_ENST00000357649.2_Missense_Mutation_p.V855M|PLEC_ENST00000354958.2_Missense_Mutation_p.V829M|PLEC_ENST00000527096.1_Missense_Mutation_p.V874M|PLEC_ENST00000354589.3_Missense_Mutation_p.V851M|PLEC_ENST00000356346.3_Missense_Mutation_p.V837M	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	988	Globular 1.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						ACGGAGGGCACGGCGGCCTCG	0.716													6	4					0	0	1	0	0	T	145004373	C	T	145004373	3	4	81	1	0	0	0	0	1	0	0	0	12100	536	19	1	11140	1	PLEC	8	145004373	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2547	145004373	1359649	7033	10649											
PLEC	5339	broad.mit.edu	37	8	145011406	145011406	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:145011406C>T	ENST00000322810.4	-	4	849	c.680G>A	c.(679-681)cGg>cAg	p.R227Q	PLEC_ENST00000398774.2_Missense_Mutation_p.R58Q|PLEC_ENST00000345136.3_Missense_Mutation_p.R90Q|PLEC_ENST00000436759.2_Missense_Mutation_p.R117Q|PLEC_ENST00000357649.2_Missense_Mutation_p.R94Q|PLEC_ENST00000354958.2_Missense_Mutation_p.R68Q|PLEC_ENST00000527096.1_Missense_Mutation_p.R117Q|PLEC_ENST00000354589.3_Missense_Mutation_p.R90Q|PLEC_ENST00000356346.3_Missense_Mutation_p.R76Q	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	227	Actin-binding.|CH 1.|Globular 1.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CCCCTTCTCCCGGGGCTGTGG	0.677													6	16					0	0	1	0	0	T	145011406	C	T	145011406	3	4	81	1	0	0	0	0	1	0	0	0	12100	652	23	1	13490	1	PLEC	8	145011406	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	7033	145011406	1352616	7034	10650											
PLEC	5339	broad.mit.edu	37	8	145016656	145016656	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:145016656A>G	ENST00000357649.2	-	1	36	c.28T>C	c.(28-30)Tcg>Ccg	p.S10P	PLEC_ENST00000398774.2_Intron|PLEC_ENST00000436759.2_Intron|PLEC_ENST00000354958.2_Intron|PLEC_ENST00000527096.1_Intron|PLEC_ENST00000354589.3_Intron|PLEC_ENST00000356346.3_Intron|PLEC_ENST00000322810.4_Intron	NM_201383.1	NP_958785.1	Q15149	PLEC_HUMAN	plectin	0	Globular 1.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						TCCCTCGGCGAGGCAAAGGCG	0.751													5	4					0	0	1	0	0	G	145016656	A	G	145016656	3	3	81	1	0	0	0	0	1	0	0	0	12100	304	11	3	13871	3	PLEC	8	145016656	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	5250	145016656	1347366	7035	10651											
PLEC	5339	broad.mit.edu	37	8	145024784	145024784	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:145024784G>A	ENST00000322810.4	-	1	260	c.91C>T	c.(91-93)Cgg>Tgg	p.R31W	PLEC_ENST00000436759.2_Intron|PLEC_ENST00000354958.2_Intron|PLEC_ENST00000527096.1_Intron|PLEC_ENST00000356346.3_Intron	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	31	Globular 1.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle	p.R31R(1)		NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CGGGGCCGCCGGTCCTTCTTG	0.697													3	2					0	0	1	0	0	A	145024784	G	A	145024784	3	1	81	1	0	0	0	0	1	0	0	0	12100	1115	39	1	14471	1	PLEC	8	145024784	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	8128	145024784	1339238	7036	10652											
SPATC1	375686	broad.mit.edu	37	8	145094990	145094990	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:145094990C>T	ENST00000377470.3	+	2	494	c.392C>T	c.(391-393)aCg>aTg	p.T131M	SPATC1_ENST00000447830.2_Missense_Mutation_p.T131M	NM_198572.2	NP_940974.2	Q76KD6	SPERI_HUMAN	spermatogenesis and centriole associated 1	131										NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.67e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CCAGCACCCACGTCACAGAGC	0.667													8	11					0	0	1	0	0	T	145094990	C	T	145094990	3	4	81	1	0	0	0	0	1	0	0	0	15073	536	19	1	398	1	SPATC1	8	145094990	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	70206	145094990	1269032	7037	10653											
OPLAH	26873	broad.mit.edu	37	8	145111623	145111623	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:145111623C>T	ENST00000426825.1	-	13	1823	c.1742G>A	c.(1741-1743)cGc>cAc	p.R581H	OPLAH_ENST00000534424.1_5'UTR	NM_017570.3	NP_060040.1	O14841	OPLA_HUMAN	5-oxoprolinase (ATP-hydrolysing)	581							5-oxoprolinase (ATP-hydrolyzing) activity|ATP binding			breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		L-Glutamic Acid(DB00142)	GCCCTGGTAGCGCAGGTGCAG	0.682													9	12					0	0	1	0	0	T	145111623	C	T	145111623	3	4	81	1	0	0	0	0	1	0	0	0	10924	768	27	1	2186	1	OPLAH	8	145111623	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	16633	145111623	1252399	7038	10654											
OPLAH	26873	broad.mit.edu	37	8	145112765	145112765	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:145112765G>A	ENST00000426825.1	-	9	1231	c.1150C>T	c.(1150-1152)Cgc>Tgc	p.R384C	OPLAH_ENST00000534424.1_5'UTR	NM_017570.3	NP_060040.1	O14841	OPLA_HUMAN	5-oxoprolinase (ATP-hydrolysing)	384							5-oxoprolinase (ATP-hydrolyzing) activity|ATP binding	p.R384C(1)		breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		L-Glutamic Acid(DB00142)	TTACCTTTGCGGTAGCAGGCG	0.662													7	14					0	0	1	0	0	A	145112765	G	A	145112765	3	1	81	1	0	0	0	0	1	0	0	0	10924	1116	39	1	2794	1	OPLAH	8	145112765	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1142	145112765	1251257	7039	10655											
GPAA1	8733	broad.mit.edu	37	8	145139388	145139388	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:145139388C>T	ENST00000355091.4	+	7	1007	c.886C>T	c.(886-888)Cgg>Tgg	p.R296W	GPAA1_ENST00000527144.1_3'UTR|GPAA1_ENST00000361036.6_Missense_Mutation_p.R236W	NM_003801.3	NP_003792.1	O43292	GPAA1_HUMAN	glycosylphosphatidylinositol anchor attachment 1	296					attachment of GPI anchor to protein|C-terminal protein lipidation|protein complex assembly|protein retention in ER lumen	GPI-anchor transamidase complex	tubulin binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(2)	19	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.02e-40)|all cancers(56;2.11e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CATGGTTCTGCGGCAGGCCTC	0.627													10	24					0	0	1	0	0	T	145139388	C	T	145139388	3	4	81	1	0	0	0	0	1	0	0	0	6627	759	27	1	912	1	GPAA1	8	145139388	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	26623	145139388	1224634	7040	10656											
GPAA1	8733	broad.mit.edu	37	8	145139718	145139718	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:145139718C>T	ENST00000355091.4	+	8	1225	c.1104C>T	c.(1102-1104)ttC>ttT	p.F368F	GPAA1_ENST00000361036.6_Silent_p.F308F	NM_003801.3	NP_003792.1	O43292	GPAA1_HUMAN	glycosylphosphatidylinositol anchor attachment 1	368					attachment of GPI anchor to protein|C-terminal protein lipidation|protein complex assembly|protein retention in ER lumen	GPI-anchor transamidase complex	tubulin binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(2)	19	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.02e-40)|all cancers(56;2.11e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TCTCCCGCTTCGTCTCCATCG	0.607													24	69					0	0	1	0	0	T	145139718	C	T	145139718	2	4	81	1	0	0	0	0	0	0	0	1	6627	883	31	1		1	GPAA1	8	145139718	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	330	145139718	1224304	7041	10657											
SHARPIN	81858	broad.mit.edu	37	8	145153817	145153817	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:145153817G>T	ENST00000398712.2	-	8	1564	c.1128C>A	c.(1126-1128)ccC>ccA	p.P376P		NM_030974.3	NP_112236.3	Q9H0F6	SHRPN_HUMAN	SHANK-associated RH domain interactor	376					negative regulation of inflammatory response|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein linear polyubiquitination|regulation of CD40 signaling pathway|regulation of tumor necrosis factor-mediated signaling pathway	cytosol|LUBAC complex	polyubiquitin binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|lung(2)|ovary(2)	7	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;4.1e-42)|Epithelial(56;1.58e-40)|all cancers(56;6.12e-36)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CCCAAGTGCAGGGCCTCTGGG	0.632													12	19					1.61879e-10	1.98515e-10	1	1	0	T	145153817	G	T	145153817	2	4	81	1	0	0	0	0	0	0	0	1	14322	987	35	4		4	SHARPIN	8	145153817	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	14099	145153817	1210205	7042	10658											
SHARPIN	81858	broad.mit.edu	37	8	145154071	145154071	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:145154071G>A	ENST00000398712.2	-	7	1396	c.960C>T	c.(958-960)gaC>gaT	p.D320D		NM_030974.3	NP_112236.3	Q9H0F6	SHRPN_HUMAN	SHANK-associated RH domain interactor	320					negative regulation of inflammatory response|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein linear polyubiquitination|regulation of CD40 signaling pathway|regulation of tumor necrosis factor-mediated signaling pathway	cytosol|LUBAC complex	polyubiquitin binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|lung(2)|ovary(2)	7	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;4.1e-42)|Epithelial(56;1.58e-40)|all cancers(56;6.12e-36)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CAAGTTCCCCGTCCATCTTCT	0.677													10	18					0	0	1	0	0	A	145154071	G	A	145154071	2	1	81	1	0	0	0	0	0	0	0	1	14322	1136	40	1		1	SHARPIN	8	145154071	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	254	145154071	1209951	7043	10659											
MAF1	84232	broad.mit.edu	37	8	145161325	145161325	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:145161325C>T	ENST00000534585.1	+	5	849	c.458C>T	c.(457-459)gCg>gTg	p.A153V	MAF1_ENST00000322428.5_Missense_Mutation_p.A153V|MAF1_ENST00000532522.1_Missense_Mutation_p.A153V			Q9H063	MAF1_HUMAN	MAF1 homolog (S. cerevisiae)	153					negative regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	cytoplasm|nucleus				central_nervous_system(1)|lung(8)|urinary_tract(1)	10	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.1e-42)|Epithelial(56;1.23e-40)|all cancers(56;4.84e-36)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CTGTGGAACGCGGTGGACGAG	0.592													10	21					0	0	1	0	0	T	145161325	C	T	145161325	3	4	81	1	0	0	0	0	1	0	0	0	9202	768	27	1	472	1	MAF1	8	145161325	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	7254	145161325	1202697	7044	10660											
HSF1	3297	broad.mit.edu	37	8	145535674	145535674	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:145535674C>T	ENST00000528838.1	+	9	1046	c.886C>T	c.(886-888)Cgt>Tgt	p.R296C	HSF1_ENST00000400780.4_Missense_Mutation_p.R231C	NM_005526.2	NP_005517.1	Q00613	HSF1_HUMAN	heat shock transcription factor 1	296	Regulatory domain.					cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(1)|lung(3)|prostate(3)|skin(1)|urinary_tract(2)	11	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;3.94e-40)|Epithelial(56;1.12e-39)|all cancers(56;9.11e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0547)|Colorectal(110;0.055)			CCCCCTGGTGCGTGTCAAGGA	0.721													6	2					0	0	1	0	0	T	145535674	C	T	145535674	3	4	81	1	0	0	0	0	1	0	0	0	7436	768	27	1	920	1	HSF1	8	145535674	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	374349	145535674	828348	7045	10661											
DGAT1	8694	broad.mit.edu	37	8	145540576	145540576	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:145540576G>A	ENST00000332324.4	-	16	1524	c.1251C>T	c.(1249-1251)taC>taT	p.Y417Y	DGAT1_ENST00000527438.1_5'UTR	NM_012079.4	NP_036211.2	O75907	DGAT1_HUMAN	diacylglycerol O-acyltransferase 1	417					triglyceride biosynthetic process|very-low-density lipoprotein particle assembly	endoplasmic reticulum membrane|integral to membrane	diacylglycerol O-acyltransferase activity			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	9	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;3.94e-40)|Epithelial(56;7.67e-40)|all cancers(56;7.88e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)			CGCTCACCAGGTACTGAGATG	0.642													5	6					0	0	1	0	0	A	145540576	G	A	145540576	2	1	81	1	0	0	0	0	0	0	0	1	4485	1256	44	2		2	DGAT1	8	145540576	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	4902	145540576	823446	7046	10662											
ADCK5	203054	broad.mit.edu	37	8	145617300	145617300	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:145617300C>T	ENST00000308860.6	+	11	1149	c.1105C>T	c.(1105-1107)Cgg>Tgg	p.R369W		NM_174922.3	NP_777582.4	Q3MIX3	ADCK5_HUMAN	aarF domain containing kinase 5	369	Protein kinase.					integral to membrane	protein serine/threonine kinase activity			endometrium(1)|lung(2)|prostate(2)|skin(1)|stomach(2)	8	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;8.96e-41)|Epithelial(56;4.08e-40)|all cancers(56;4.51e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			AGTTCTGGTGCGGAAAGGCCC	0.662													7	12					0	0	1	0	0	T	145617300	C	T	145617300	3	4	81	1	0	0	0	0	1	0	0	0	290	759	27	1	1147	1	ADCK5	8	145617300	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	76724	145617300	746722	7047	10663											
CPSF1	29894	broad.mit.edu	37	8	145626853	145626853	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:145626853C>A	ENST00000349769.3	-	4	371	c.277G>T	c.(277-279)Gcc>Tcc	p.A93S		NM_013291.2	NP_037423.2	Q10570	CPSF1_HUMAN	cleavage and polyadenylation specific factor 1, 160kDa	93					mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	mRNA 3'-UTR binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38	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;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			AGGAGCAGGGCATCCCGCTTG	0.637													7	15					0.00307968	0.00324365	1	1	0	A	145626853	C	A	145626853	3	1	81	1	0	0	0	0	1	0	0	0	3847	710	25	5	4194	5	CPSF1	8	145626853	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	9553	145626853	737169	7048	10664											
VPS28	51160	broad.mit.edu	37	8	145651093	145651093	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:145651093T>C	ENST00000377348.2	-	5	256	c.167A>G	c.(166-168)tAc>tGc	p.Y56C	VPS28_ENST00000529182.1_Missense_Mutation_p.Y56C|VPS28_ENST00000526734.1_5'UTR|VPS28_ENST00000292510.4_Missense_Mutation_p.Y56C|VPS28_ENST00000526054.1_Missense_Mutation_p.Y56C	NM_183057.1	NP_898880.1	Q9UK41	VPS28_HUMAN	vacuolar protein sorting 28 homolog (S. cerevisiae)	56	VPS28 N-terminal.				cellular membrane organization|endosome transport|negative regulation of protein ubiquitination|protein transport	cytosol|late endosome membrane|plasma membrane	protein binding			kidney(1)|large_intestine(1)|lung(4)|prostate(1)	7	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;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)			GTCCTTGATGTAGGCCTTCTC	0.612													15	26					0	0	1	0	0	C	145651093	T	C	145651093	3	2	81	1	0	0	0	0	1	0	0	0	17259	1638	57	3	636	3	VPS28	8	145651093	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	24240	145651093	712929	7049	10665											
FOXH1	8928	broad.mit.edu	37	8	145699694	145699694	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:145699694T>C	ENST00000377317.4	-	3	1603	c.1025A>G	c.(1024-1026)gAc>gGc	p.D342G		NM_003923.2	NP_003914.1	O75593	FOXH1_HUMAN	forkhead box H1	342	SMAD-interaction domain (SID).				axial mesoderm development|blood vessel development|cell migration involved in gastrulation|embryonic heart tube anterior/posterior pattern formation|floor plate formation|heart looping|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|specification of organ position|transforming growth factor beta receptor signaling pathway	activin responsive factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|R-SMAD binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5	all_cancers(97;4.61e-11)|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;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.76e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)			GACCCAAACGTCGTAGATGCT	0.667													3	41					0	0	1	0	0	C	145699694	T	C	145699694	3	2	81	1	0	0	0	0	1	0	0	0	6042	1667	58	3	76	3	FOXH1	8	145699694	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	48601	145699694	664328	7050	10666											
PPP1R16A	84988	broad.mit.edu	37	8	145726987	145726987	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:145726987C>T	ENST00000292539.4	+	11	2205	c.1288C>T	c.(1288-1290)Cgg>Tgg	p.R430W	PPP1R16A_ENST00000435887.1_Missense_Mutation_p.R430W			Q96I34	PP16A_HUMAN	protein phosphatase 1, regulatory subunit 16A	430						plasma membrane	protein binding			NS(1)|endometrium(1)|kidney(2)|lung(3)|prostate(1)	8	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-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;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			GCGACTAGACCGGAGTGTCTC	0.657													4	3					0	0	1	0	0	T	145726987	C	T	145726987	3	4	81	1	0	0	0	0	1	0	0	0	12414	643	23	1	1326	1	PPP1R16A	8	145726987	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	27293	145726987	637035	7051	10667											
RECQL4	9401	broad.mit.edu	37	8	145739847	145739847	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:145739847T>C	ENST00000428558.2	-	10	1724	c.1683A>G	c.(1681-1683)caA>caG	p.Q561Q	RECQL4_ENST00000532237.1_5'UTR	NM_004260.3	NP_004251.3	O94761	RECQ4_HUMAN	RecQ protein-like 4	561	Helicase ATP-binding.				DNA duplex unwinding|DNA recombination|DNA repair	cytoplasm|nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|DNA strand annealing activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-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;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			CAGATTCCCGTTGCTTCCTGG	0.647			"N, F, S"			"osteosarcoma, skin basal and sqamous cell"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Rothmund-Thomson syndrome;RAPADILINO syndrome;Baller-Gerold syndrome				3	21					0	0	1	0	0	C	145739847	T	C	145739847	2	2	81	1	0	0	0	0	0	0	0	1	13254	1722	60	3		3	RECQL4	8	145739847	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	12860	145739847	624175	7052	10668											
RECQL4	9401	broad.mit.edu	37	8	145741146	145741146	+	Splice_Site	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:145741146A>G	ENST00000428558.2	-	6	1300		c.e6+1		RECQL4_ENST00000532237.1_Splice_Site	NM_004260.3	NP_004251.3	O94761	RECQ4_HUMAN	RecQ protein-like 4						DNA duplex unwinding|DNA recombination|DNA repair	cytoplasm|nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|DNA strand annealing activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-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;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			CAGATGTCTCACCTGGCCGGG	0.592			"N, F, S"			"osteosarcoma, skin basal and sqamous cell"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Rothmund-Thomson syndrome;RAPADILINO syndrome;Baller-Gerold syndrome				7	9					0	0	1	0	0	G	145741146	A	G	145741146	5	3	81	1	0	0	0	0	0	0	1	0	13254	173	6	3	2431	3	RECQL4	8	145741146	Splice_Site	SNP	A	TCGA-DU-6392-01A-11D-1705-08	1299	145741146	622876	7053	10669											
ARHGAP39	80728	broad.mit.edu	37	8	145773468	145773468	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:145773468G>A	ENST00000276826.5	-	4	1203	c.1002C>T	c.(1000-1002)ttC>ttT	p.F334F	ARHGAP39_ENST00000540274.1_Silent_p.F334F|ARHGAP39_ENST00000377307.2_Silent_p.F334F			Q9C0H5	RHG39_HUMAN	Rho GTPase activating protein 39	334	Pro-rich.				axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|nucleus	GTPase activator activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						CGCCAGCCTCGAATTGCACGT	0.706													15	29					0	0	1	0	0	A	145773468	G	A	145773468	2	1	81	1	0	0	0	0	0	0	0	1	881	1049	37	1		1	ARHGAP39	8	145773468	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	32322	145773468	590554	7054	10670											
ZNF251	90987	broad.mit.edu	37	8	145947321	145947321	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:145947321A>G	ENST00000292562.7	-	5	1999	c.1724T>C	c.(1723-1725)tTc>tCc	p.F575S	ZNF251_ENST00000524394.1_Intron	NM_138367.1	NP_612376.1	Q9BRH9	ZN251_HUMAN	zinc finger protein 251	575					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|kidney(1)|large_intestine(5)|lung(9)|stomach(1)	17	all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;7.54e-38)|all cancers(56;6.19e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.198)		GGTGGGACTGAAAGCTTTTCC	0.458													5	85					0	0	1	0	0	G	145947321	A	G	145947321	3	3	81	1	0	0	0	0	1	0	0	0	17854	246	9	3	295	3	ZNF251	8	145947321	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	173853	145947321	416701	7055	10671											
ZNF251	90987	broad.mit.edu	37	8	145947656	145947656	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:145947656G>A	ENST00000292562.7	-	5	1664	c.1389C>T	c.(1387-1389)tgC>tgT	p.C463C	ZNF251_ENST00000524394.1_Intron	NM_138367.1	NP_612376.1	Q9BRH9	ZN251_HUMAN	zinc finger protein 251	463					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|kidney(1)|large_intestine(5)|lung(9)|stomach(1)	17	all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;7.54e-38)|all cancers(56;6.19e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.198)		CACATTCAACGCACTGGTAGG	0.517													13	30					0	0	1	0	0	A	145947656	G	A	145947656	2	1	81	1	0	0	0	0	0	0	0	1	17854	1079	38	1		1	ZNF251	8	145947656	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	335	145947656	416366	7056	10672											
ZNF34	80778	broad.mit.edu	37	8	145999691	145999691	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:145999691G>A	ENST00000429371.2	-	6	733	c.580C>T	c.(580-582)Cgt>Tgt	p.R194C	ZNF34_ENST00000343459.4_Missense_Mutation_p.R215C	NM_030580.3	NP_085057.3	Q8IZ26	ZNF34_HUMAN	zinc finger protein 34	215					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|skin(1)	11	all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.221)	OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;5.18e-38)|all cancers(56;4.41e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.0179)		CTGTGTACACGCTTATGGTTG	0.388													11	20					0	0	1	0	0	A	145999691	G	A	145999691	3	1	81	1	0	0	0	0	1	0	0	0	17913	1087	38	1	1043	1	ZNF34	8	145999691	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	52035	145999691	364331	7057	10673											
ZNF7	7553	broad.mit.edu	37	8	146066770	146066770	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:146066770C>T	ENST00000528372.1	+	5	518	c.278C>T	c.(277-279)gCc>gTc	p.A93V	ZNF7_ENST00000325217.5_Intron|ZNF7_ENST00000529819.1_Intron|ZNF7_ENST00000532393.1_3'UTR|ZNF7_ENST00000325241.6_Missense_Mutation_p.A93V|ZNF7_ENST00000525266.1_Intron|ZNF7_ENST00000544249.1_5'UTR|ZNF7_ENST00000446747.2_Missense_Mutation_p.A104V			P17097	ZNF7_HUMAN	zinc finger protein 7	93					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|ovary(5)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Breast(495;0.0812)|Ovarian(118;0.0822)|Acute lymphoblastic leukemia(644;0.143)	Epithelial(56;8.75e-39)|OV - Ovarian serous cystadenocarcinoma(54;1.13e-38)|all cancers(56;8.48e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;2.11e-07)		AATGAGCAGGCCTGTGAGGAC	0.453													7	172					0	0	1	0	0	T	146066770	C	T	146066770	3	4	81	1	0	0	0	0	1	0	0	0	18158	739	26	2	292	2	ZNF7	8	146066770	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	67079	146066770	297252	7058	10674											
ZNF7	7553	broad.mit.edu	37	8	146068162	146068162	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:146068162A>C	ENST00000528372.1	+	5	1910	c.1670A>C	c.(1669-1671)gAa>gCa	p.E557A	ZNF7_ENST00000325217.5_Intron|ZNF7_ENST00000325241.6_Missense_Mutation_p.E557A|ZNF7_ENST00000525266.1_Intron|ZNF7_ENST00000544249.1_Missense_Mutation_p.E461A|ZNF7_ENST00000446747.2_Missense_Mutation_p.E568A			P17097	ZNF7_HUMAN	zinc finger protein 7	557					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|ovary(5)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Breast(495;0.0812)|Ovarian(118;0.0822)|Acute lymphoblastic leukemia(644;0.143)	Epithelial(56;8.75e-39)|OV - Ovarian serous cystadenocarcinoma(54;1.13e-38)|all cancers(56;8.48e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;2.11e-07)		AAATGTAATGAATGTGGGAAA	0.463													37	74					0	0	1	0	0	C	146068162	A	C	146068162	3	2	81	1	0	0	0	0	1	0	0	0	18158	246	9	5	1684	5	ZNF7	8	146068162	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	1392	146068162	295860	7059	10675											
ZNF16	7564	broad.mit.edu	37	8	146156218	146156218	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:146156218G>T	ENST00000276816.4	-	4	2141	c.1955C>A	c.(1954-1956)aCt>aAt	p.T652N	ZNF16_ENST00000394909.2_Missense_Mutation_p.T652N	NM_001029976.2	NP_001025147.2	P17020	ZNF16_HUMAN	zinc finger protein 16	652					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|lung(9)|ovary(5)|prostate(1)|skin(1)|urinary_tract(1)	29	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.136)	Epithelial(56;3.45e-38)|all cancers(56;3.04e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.02)|KIRC - Kidney renal clear cell carcinoma(644;0.0486)		CTTCACCCCAGTGTGAATCCT	0.527													40	77					7.04047e-22	9.23508e-22	1	1	0	T	146156218	G	T	146156218	3	4	81	1	0	0	0	0	1	0	0	0	17796	1029	36	4	97	4	ZNF16	8	146156218	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	88056	146156218	207804	7060	10676	47	2									
ZNF16	7564	broad.mit.edu	37	8	146156226	146156226	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:146156226C>A	ENST00000276816.4	-	4	2133	c.1947G>T	c.(1945-1947)agG>agT	p.R649S	ZNF16_ENST00000394909.2_Missense_Mutation_p.R649S	NM_001029976.2	NP_001025147.2	P17020	ZNF16_HUMAN	zinc finger protein 16	649					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|lung(9)|ovary(5)|prostate(1)|skin(1)|urinary_tract(1)	29	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.136)	Epithelial(56;3.45e-38)|all cancers(56;3.04e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.02)|KIRC - Kidney renal clear cell carcinoma(644;0.0486)		CAGTGTGAATCCTCTGGTGCT	0.522													7	101					2.7689e-08	3.2887e-08	1	1	0	A	146156226	C	A	146156226	3	1	81	1	0	0	0	0	1	0	0	0	17796	854	30	5	105	5	ZNF16	8	146156226	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	8	146156226	207796	7061	10677	47	2									
ZNF16	7564	broad.mit.edu	37	8	146156927	146156927	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:146156927G>A	ENST00000276816.4	-	4	1432	c.1246C>T	c.(1246-1248)Cgg>Tgg	p.R416W	ZNF16_ENST00000394909.2_Missense_Mutation_p.R416W	NM_001029976.2	NP_001025147.2	P17020	ZNF16_HUMAN	zinc finger protein 16	416					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|lung(9)|ovary(5)|prostate(1)|skin(1)|urinary_tract(1)	29	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.136)	Epithelial(56;3.45e-38)|all cancers(56;3.04e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.02)|KIRC - Kidney renal clear cell carcinoma(644;0.0486)		TTGGAGACCCGACTGAAGGGC	0.517													17	36					0	0	1	0	0	A	146156927	G	A	146156927	3	1	81	1	0	0	0	0	1	0	0	0	17796	1057	37	1	806	1	ZNF16	8	146156927	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	701	146156927	207095	7062	10678											
ZNF16	7564	broad.mit.edu	37	8	146157522	146157522	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:146157522G>T	ENST00000276816.4	-	4	837	c.651C>A	c.(649-651)acC>acA	p.T217T	ZNF16_ENST00000394909.2_Silent_p.T217T	NM_001029976.2	NP_001025147.2	P17020	ZNF16_HUMAN	zinc finger protein 16	217					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|lung(9)|ovary(5)|prostate(1)|skin(1)|urinary_tract(1)	29	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.136)	Epithelial(56;3.45e-38)|all cancers(56;3.04e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.02)|KIRC - Kidney renal clear cell carcinoma(644;0.0486)		TTCCTTGGAAGGTTTTCCCAC	0.488													19	132					5.03518e-11	6.21509e-11	1	1	0	T	146157522	G	T	146157522	2	4	81	1	0	0	0	0	0	0	0	1	17796	987	35	4		4	ZNF16	8	146157522	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	595	146157522	206500	7063	10679											
C8orf33	65265	broad.mit.edu	37	8	146278270	146278270	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:146278270G>A	ENST00000331434.6	+	2	419	c.305G>A	c.(304-306)aGc>aAc	p.S102N		NM_023080.2	NP_075568.1	Q9H7E9	CH033_HUMAN	chromosome 8 open reading frame 33	102										endometrium(1)|large_intestine(1)|lung(4)|urinary_tract(1)	7	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;9.1e-38)|all cancers(56;7.37e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.243)		GTTCCCCTAAGCGCTGAGGCC	0.582													5	15					0	0	1	0	0	A	146278270	G	A	146278270	3	1	81	1	0	0	0	0	1	0	0	0	2438	971	34	2	311	2	C8orf33	8	146278270	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	120748	146278270	85752	7064	10680											
FOXD4	2298	broad.mit.edu	37	9	117021	117021	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:117021G>A	ENST00000382500.2	-	1	1396	c.1099C>T	c.(1099-1101)Cgg>Tgg	p.R367W		NM_207305.4	NP_997188.2	Q12950	FOXD4_HUMAN	forkhead box D4	367					axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			endometrium(5)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	14	all_lung(41;0.218)	all_cancers(5;0.0395)|Acute lymphoblastic leukemia(5;1.91e-07)|all_hematologic(5;1.95e-06)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		TCCTGATGCCGCTGCTGTTGC	0.687													32	141					0	0	1	0	0	A	117021	G	A	117021	3	1	81	1	0	0	0	0	1	0	0	0	6032	1086	38	1	224	1	FOXD4	9	117021	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08		117021	141096410	7065	10681											
DOCK8	81704	broad.mit.edu	37	9	328087	328087	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:328087G>A	ENST00000432829.2	+	9	1072	c.756G>A	c.(754-756)acG>acA	p.T252T	DOCK8_ENST00000469391.1_Silent_p.T252T|DOCK8_ENST00000453981.1_Silent_p.T320T	NM_203447.3	NP_982272.2	Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	320					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		GAGCTCACACGCCTTCAGTGG	0.458													24	35					0	0	1	0	0	A	328087	G	A	328087	2	1	81	1	0	0	0	0	0	0	0	1	4720	1074	38	1		1	DOCK8	9	328087	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	211066	328087	140885344	7066	10682											
DOCK8	81704	broad.mit.edu	37	9	379793	379793	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:379793C>T	ENST00000432829.2	+	21	2575	c.2259C>T	c.(2257-2259)ttC>ttT	p.F753F	DOCK8_ENST00000382331.1_Silent_p.F123F|DOCK8_ENST00000469391.1_Silent_p.F753F|DOCK8_ENST00000453981.1_Silent_p.F821F|DOCK8_ENST00000382329.1_Silent_p.F288F	NM_203447.3	NP_982272.2	Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	821					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		AGTTTGCCTTCGAGTCCGTGG	0.557													9	12					0	0	1	0	0	T	379793	C	T	379793	2	4	81	1	0	0	0	0	0	0	0	1	4720	883	31	1		1	DOCK8	9	379793	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	51706	379793	140833638	7067	10683											
DOCK8	81704	broad.mit.edu	37	9	439372	439372	+	Missense_Mutation	SNP	C	C	T	rs139990627	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:439372C>T	ENST00000432829.2	+	40	5319	c.5003C>T	c.(5002-5004)gCg>gTg	p.A1668V	DOCK8_ENST00000469391.1_Missense_Mutation_p.A1636V|DOCK8_ENST00000453981.1_Missense_Mutation_p.A1736V|DOCK8_ENST00000382329.1_Missense_Mutation_p.A1203V	NM_203447.3	NP_982272.2	Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	1736	DHR-2.				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		GAGCAGGCCGCGGAGCTCTTC	0.642													22	22					0	0	1	0	0	T	439372	C	T	439372	3	4	81	1	0	0	0	0	1	0	0	0	4720	768	27	1	5365	1	DOCK8	9	439372	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	59579	439372	140774059	7068	10684											
DOCK8	81704	broad.mit.edu	37	9	441969	441969	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:441969C>A	ENST00000432829.2	+	42	5562	c.5246C>A	c.(5245-5247)cCt>cAt	p.P1749H	DOCK8_ENST00000469391.1_Missense_Mutation_p.P1717H|DOCK8_ENST00000453981.1_Missense_Mutation_p.P1817H|DOCK8_ENST00000382329.1_Missense_Mutation_p.P1284H	NM_203447.3	NP_982272.2	Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	1817	DHR-2.				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		TACAAAGAGCCTGCAATTACC	0.423													11	68					6.40141e-05	7.07494e-05	1	1	0	A	441969	C	A	441969	3	1	81	1	0	0	0	0	1	0	0	0	4720	681	24	4	5616	4	DOCK8	9	441969	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2597	441969	140771462	7069	10685											
KANK1	23189	broad.mit.edu	37	9	711585	711585	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:711585C>T	ENST00000382303.1	+	7	1471	c.819C>T	c.(817-819)cgC>cgT	p.R273R	KANK1_ENST00000489369.1_3'UTR|KANK1_ENST00000382297.2_Silent_p.R273R|KANK1_ENST00000382293.3_Silent_p.R115R	NM_001256876.1	NP_001243805.1	Q14678	KANK1_HUMAN	KN motif and ankyrin repeat domains 1	273					negative regulation of actin filament polymerization	cytoplasm				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1)	43		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)		CTCTGAAACGCCTGAAGGAGC	0.572													18	36					0	0	1	0	0	T	711585	C	T	711585	2	4	81	1	0	0	0	0	0	0	0	1	8020	726	26	2		2	KANK1	9	711585	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	269616	711585	140501846	7070	10686											
DMRT3	58524	broad.mit.edu	37	9	990083	990083	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:990083A>G	ENST00000190165.2	+	2	535	c.497A>G	c.(496-498)aAt>aGt	p.N166S		NM_021240.2	NP_067063.1	Q9NQL9	DMRT3_HUMAN	doublesex and mab-3 related transcription factor 3	166					cell differentiation|multicellular organismal development|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08)		Lung(218;0.0196)		TCGGCAGACAATACAGAGGTC	0.493													21	35					0	0	1	0	0	G	990083	A	G	990083	3	3	81	1	0	0	0	0	1	0	0	0	4615	101	4	3	503	3	DMRT3	9	990083	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	278498	990083	140223348	7071	10687											
SMARCA2	6595	broad.mit.edu	37	9	2054698	2054698	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:2054698T>G	ENST00000382203.1	+	6	1357	c.1148T>G	c.(1147-1149)cTt>cGt	p.L383R	SMARCA2_ENST00000349721.2_Missense_Mutation_p.L383R|SMARCA2_ENST00000357248.2_Missense_Mutation_p.L383R|SMARCA2_ENST00000382194.1_Missense_Mutation_p.L383R			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	383					chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		CTAAAAGCACTTCGGTTACTC	0.423													5	93					0	0	1	0	0	G	2054698	T	G	2054698	3	3	81	1	0	0	0	0	1	0	0	0	14823	1609	56	5	1166	5	SMARCA2	9	2054698	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	1064615	2054698	139158733	7072	10688											
VLDLR	7436	broad.mit.edu	37	9	2643437	2643437	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:2643437C>T	ENST00000382100.3	+	5	1082	c.726C>T	c.(724-726)agC>agT	p.S242S	VLDLR_ENST00000382099.2_Silent_p.S242S	NM_003383.3	NP_003374.3	P98155	VLDLR_HUMAN	very low density lipoprotein receptor		LDL-receptor class A 6.				cholesterol metabolic process|endocytosis|lipid transport|memory|very-low-density lipoprotein particle clearance	coated pit|integral to membrane|membrane fraction|plasma membrane|very-low-density lipoprotein particle	apolipoprotein binding|calcium ion binding|low-density lipoprotein receptor activity|very-low-density lipoprotein particle receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	24				GBM - Glioblastoma multiforme(50;0.0668)|Lung(218;0.123)		GTCCAGCCAGCGAAATCCAGT	0.562													13	16					0	0	1	0	0	T	2643437	C	T	2643437	2	4	81	1	0	0	0	0	0	0	0	1	17234	767	27	1		1	VLDLR	9	2643437	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	588739	2643437	138569994	7073	10689											
VLDLR	7436	broad.mit.edu	37	9	2645695	2645695	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:2645695T>C	ENST00000382100.3	+	10	1790	c.1434T>C	c.(1432-1434)atT>atC	p.I478I	VLDLR_ENST00000382099.2_Silent_p.I478I	NM_003383.3	NP_003374.3	P98155	VLDLR_HUMAN	very low density lipoprotein receptor						cholesterol metabolic process|endocytosis|lipid transport|memory|very-low-density lipoprotein particle clearance	coated pit|integral to membrane|membrane fraction|plasma membrane|very-low-density lipoprotein particle	apolipoprotein binding|calcium ion binding|low-density lipoprotein receptor activity|very-low-density lipoprotein particle receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	24				GBM - Glioblastoma multiforme(50;0.0668)|Lung(218;0.123)		ATGCTGACATTGCTGCCCAGA	0.423													59	140					0	0	1	0	0	C	2645695	T	C	2645695	2	2	81	1	0	0	0	0	0	0	0	1	17234	1800	63	3		3	VLDLR	9	2645695	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	2258	2645695	138567736	7074	10690											
VLDLR	7436	broad.mit.edu	37	9	2646507	2646507	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:2646507C>A	ENST00000382100.3	+	11	2014	c.1658C>A	c.(1657-1659)tCt>tAt	p.S553Y	VLDLR_ENST00000382099.2_Missense_Mutation_p.S553Y|VLDLR_ENST00000478776.1_3'UTR	NM_003383.3	NP_003374.3	P98155	VLDLR_HUMAN	very low density lipoprotein receptor						cholesterol metabolic process|endocytosis|lipid transport|memory|very-low-density lipoprotein particle clearance	coated pit|integral to membrane|membrane fraction|plasma membrane|very-low-density lipoprotein particle	apolipoprotein binding|calcium ion binding|low-density lipoprotein receptor activity|very-low-density lipoprotein particle receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	24				GBM - Glioblastoma multiforme(50;0.0668)|Lung(218;0.123)		CTGTTTAACTCTGACTTGCGA	0.473													5	39					0.000602214	0.000646338	1	1	0	A	2646507	C	A	2646507	3	1	81	1	0	0	0	0	1	0	0	0	17234	913	32	4	1700	4	VLDLR	9	2646507	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	812	2646507	138566924	7075	10691											
VLDLR	7436	broad.mit.edu	37	9	2650376	2650376	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:2650376A>G	ENST00000382100.3	+	15	2467	c.2111A>G	c.(2110-2112)aAt>aGt	p.N704S	VLDLR_ENST00000382099.2_Missense_Mutation_p.N704S	NM_003383.3	NP_003374.3	P98155	VLDLR_HUMAN	very low density lipoprotein receptor		EGF-like 3.				cholesterol metabolic process|endocytosis|lipid transport|memory|very-low-density lipoprotein particle clearance	coated pit|integral to membrane|membrane fraction|plasma membrane|very-low-density lipoprotein particle	apolipoprotein binding|calcium ion binding|low-density lipoprotein receptor activity|very-low-density lipoprotein particle receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	24				GBM - Glioblastoma multiforme(50;0.0668)|Lung(218;0.123)		CTAGGTAAAAATTGGTGTGAA	0.413													3	37					0	0	1	0	0	G	2650376	A	G	2650376	3	3	81	1	0	0	0	0	1	0	0	0	17234	101	4	3	2169	3	VLDLR	9	2650376	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	3869	2650376	138563055	7076	10692											
KIAA0020	9933	broad.mit.edu	37	9	2828698	2828698	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:2828698C>T	ENST00000397885.2	-	9	1139	c.933G>A	c.(931-933)caG>caA	p.Q311Q	KIAA0020_ENST00000469168.1_5'UTR	NM_014878.4	NP_055693.4	Q15397	K0020_HUMAN	KIAA0020	311	PUM-HD.					endoplasmic reticulum|nucleolus	RNA binding			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)	21				GBM - Glioblastoma multiforme(50;0.0319)		GAGTTAGAATCTGTTTCATTT	0.358													15	37					0	0	1	0	0	T	2828698	C	T	2828698	2	4	81	1	0	0	0	0	0	0	0	1	8194	912	32	2		2	KIAA0020	9	2828698	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	178322	2828698	138384733	7077	10693											
KIAA0020	9933	broad.mit.edu	37	9	2831319	2831319	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:2831319C>T	ENST00000397885.2	-	6	748	c.542G>A	c.(541-543)cGt>cAt	p.R181H		NM_014878.4	NP_055693.4	Q15397	K0020_HUMAN	KIAA0020	181	PUM-HD.					endoplasmic reticulum|nucleolus	RNA binding	p.R181P(1)		NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)	21				GBM - Glioblastoma multiforme(50;0.0319)		CTGGATCACACGAGTTGAATC	0.338													18	47					0	0	1	0	0	T	2831319	C	T	2831319	3	4	81	1	0	0	0	0	1	0	0	0	8194	536	19	1	1456	1	KIAA0020	9	2831319	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2621	2831319	138382112	7078	10694											
GLIS3	169792	broad.mit.edu	37	9	4125771	4125771	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:4125771T>C	ENST00000324333.10	-	2	287	c.94A>G	c.(94-96)Aat>Gat	p.N32D	GLIS3_ENST00000381971.3_Missense_Mutation_p.N187D	NM_152629.3	NP_689842.3	Q8NEA6	GLIS3_HUMAN	GLIS family zinc finger 3	32					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)		TTGGCTGCATTCATTGCCCTC	0.463													35	70					0	0	1	0	0	C	4125771	T	C	4125771	3	2	81	1	0	0	0	0	1	0	0	0	6489	1783	62	3	2269	3	GLIS3	9	4125771	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	1294452	4125771	137087660	7079	10695											
GLIS3	169792	broad.mit.edu	37	9	4286206	4286206	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:4286206C>T	ENST00000381971.3	-	2	813	c.220G>A	c.(220-222)Gtg>Atg	p.V74M		NM_001042413.1	NP_001035878.1	Q8NEA6	GLIS3_HUMAN	GLIS family zinc finger 3	0	Ser-rich.				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)		CTCTCAGCCACGTTGTTCTGA	0.587													12	38					0	0	1	0	0	T	4286206	C	T	4286206	3	4	81	1	0	0	0	0	1	0	0	0	6489	536	19	1	2612	1	GLIS3	9	4286206	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	160435	4286206	136927225	7080	10696											
SLC1A1	6505	broad.mit.edu	37	9	4567705	4567705	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:4567705G>A	ENST00000262352.3	+	6	756	c.520G>A	c.(520-522)Gat>Aat	p.D174N		NM_004170.5	NP_004161.4	P43005	EAA3_HUMAN	solute carrier family 1 (neuronal/epithelial high affinity glutamate transporter, system Xag), member 1	174					D-aspartate import|L-glutamate import|synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|pancreas(1)|skin(1)	15		Acute lymphoblastic leukemia(2;0.0359)|Breast(48;0.0457)		GBM - Glioblastoma multiforme(50;0.0124)|Lung(218;0.183)	L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)	GCCTCCCAGCGATCCAGAGAT	0.413													6	10					0	0	1	0	0	A	4567705	G	A	4567705	3	1	81	1	0	0	0	0	1	0	0	0	14486	1058	37	1	542	1	SLC1A1	9	4567705	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	281499	4567705	136645726	7081	10697											
CDC37L1	55664	broad.mit.edu	37	9	4701964	4701964	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:4701964C>T	ENST00000381854.3	+	6	1050	c.848C>T	c.(847-849)aCa>aTa	p.T283I	CDC37L1_ENST00000381858.1_Missense_Mutation_p.T283I	NM_017913.2	NP_060383.2	Q7L3B6	CD37L_HUMAN	cell division cycle 37-like 1	283	Interaction with Hsp70.|Required for interaction with STIP1.					cytoplasm				breast(1)|kidney(1)|lung(2)	4	all_hematologic(13;0.137)	Breast(48;0.238)		GBM - Glioblastoma multiforme(50;0.0318)		CAACCTATGACAGTTCAGAAT	0.338													15	40					0	0	1	0	0	T	4701964	C	T	4701964	3	4	81	1	0	0	0	0	1	0	0	0	3091	478	17	2	870	2	CDC37L1	9	4701964	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	134259	4701964	136511467	7082	10698											
JAK2	3717	broad.mit.edu	37	9	5050690	5050690	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:5050690G>A	ENST00000381652.3	+	6	967	c.473G>A	c.(472-474)cGg>cAg	p.R158Q	JAK2_ENST00000544510.1_Missense_Mutation_p.R9Q|JAK2_ENST00000539801.1_Missense_Mutation_p.R158Q	NM_004972.3	NP_004963.1	O60674	JAK2_HUMAN	Janus kinase 2	158	FERM.|Interaction with cytokine/interferon/growth hormone receptors (By similarity).				actin filament polymerization|activation of caspase activity by protein phosphorylation|activation of JAK2 kinase activity|blood coagulation|cellular component movement|erythrocyte differentiation|interferon-gamma-mediated signaling pathway|interleukin-12-mediated signaling pathway|JAK-STAT cascade involved in growth hormone signaling pathway|mammary gland epithelium development|mesoderm development|negative regulation of cell proliferation|negative regulation of DNA binding|positive regulation of apoptosis|positive regulation of cell-substrate adhesion|positive regulation of growth hormone receptor signaling pathway|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|protein autophosphorylation|regulation of inflammatory response|regulation of interferon-gamma-mediated signaling pathway|response to antibiotic|response to lipopolysaccharide|STAT protein import into nucleus|tumor necrosis factor-mediated signaling pathway|tyrosine phosphorylation of STAT protein	caveola|cytoskeleton|cytosol|endomembrane system|nucleus	ATP binding|growth hormone receptor binding|heme binding|histone binding|histone kinase activity (H3-Y41 specific)|interleukin-12 receptor binding|non-membrane spanning protein tyrosine kinase activity|protein kinase binding|SH2 domain binding		BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)|ETV6/JAK2(11)|PCM1/JAK2(30)|PAX5/JAK2(18)	breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(32944)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(4)|skin(2)|urinary_tract(1)	32998	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)		TTTTAGTGGCGGCATGATTTT	0.328		1	"T, Mis, O"	"ETV6, PCM1, BCR"	"ALL, AML, MPD,  CML"				Polycythemia Vera, Familial				13	34					0	0	1	0	0	A	5050690	G	A	5050690	3	1	81	1	0	0	0	0	1	0	0	0	7982	1116	39	1	487	1	JAK2	9	5050690	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	348726	5050690	136162741	7083	10699											
JAK2	3717	broad.mit.edu	37	9	5050723	5050723	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:5050723C>A	ENST00000381652.3	+	6	1000	c.506C>A	c.(505-507)cCt>cAt	p.P169H	JAK2_ENST00000544510.1_Missense_Mutation_p.P20H|JAK2_ENST00000539801.1_Missense_Mutation_p.P169H	NM_004972.3	NP_004963.1	O60674	JAK2_HUMAN	Janus kinase 2	169	FERM.|Interaction with cytokine/interferon/growth hormone receptors (By similarity).				actin filament polymerization|activation of caspase activity by protein phosphorylation|activation of JAK2 kinase activity|blood coagulation|cellular component movement|erythrocyte differentiation|interferon-gamma-mediated signaling pathway|interleukin-12-mediated signaling pathway|JAK-STAT cascade involved in growth hormone signaling pathway|mammary gland epithelium development|mesoderm development|negative regulation of cell proliferation|negative regulation of DNA binding|positive regulation of apoptosis|positive regulation of cell-substrate adhesion|positive regulation of growth hormone receptor signaling pathway|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|protein autophosphorylation|regulation of inflammatory response|regulation of interferon-gamma-mediated signaling pathway|response to antibiotic|response to lipopolysaccharide|STAT protein import into nucleus|tumor necrosis factor-mediated signaling pathway|tyrosine phosphorylation of STAT protein	caveola|cytoskeleton|cytosol|endomembrane system|nucleus	ATP binding|growth hormone receptor binding|heme binding|histone binding|histone kinase activity (H3-Y41 specific)|interleukin-12 receptor binding|non-membrane spanning protein tyrosine kinase activity|protein kinase binding|SH2 domain binding		BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)|ETV6/JAK2(11)|PCM1/JAK2(30)|PAX5/JAK2(18)	breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(32944)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(4)|skin(2)|urinary_tract(1)	32998	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)		ATAAAAGTACCTGTGACTCAT	0.378		1	"T, Mis, O"	"ETV6, PCM1, BCR"	"ALL, AML, MPD,  CML"				Polycythemia Vera, Familial				6	50					3.59834e-05	3.99423e-05	1	1	0	A	5050723	C	A	5050723	3	1	81	1	0	0	0	0	1	0	0	0	7982	681	24	4	520	4	JAK2	9	5050723	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	33	5050723	136162708	7084	10700											
JAK2	3717	broad.mit.edu	37	9	5089777	5089777	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:5089777T>C	ENST00000381652.3	+	20	3169	c.2675T>C	c.(2674-2676)cTa>cCa	p.L892P	JAK2_ENST00000544510.1_Missense_Mutation_p.L743P|JAK2_ENST00000539801.1_Missense_Mutation_p.L892P	NM_004972.3	NP_004963.1	O60674	JAK2_HUMAN	Janus kinase 2	892	Protein kinase 2.				actin filament polymerization|activation of caspase activity by protein phosphorylation|activation of JAK2 kinase activity|blood coagulation|cellular component movement|erythrocyte differentiation|interferon-gamma-mediated signaling pathway|interleukin-12-mediated signaling pathway|JAK-STAT cascade involved in growth hormone signaling pathway|mammary gland epithelium development|mesoderm development|negative regulation of cell proliferation|negative regulation of DNA binding|positive regulation of apoptosis|positive regulation of cell-substrate adhesion|positive regulation of growth hormone receptor signaling pathway|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|protein autophosphorylation|regulation of inflammatory response|regulation of interferon-gamma-mediated signaling pathway|response to antibiotic|response to lipopolysaccharide|STAT protein import into nucleus|tumor necrosis factor-mediated signaling pathway|tyrosine phosphorylation of STAT protein	caveola|cytoskeleton|cytosol|endomembrane system|nucleus	ATP binding|growth hormone receptor binding|heme binding|histone binding|histone kinase activity (H3-Y41 specific)|interleukin-12 receptor binding|non-membrane spanning protein tyrosine kinase activity|protein kinase binding|SH2 domain binding		BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)|ETV6/JAK2(11)|PCM1/JAK2(30)|PAX5/JAK2(18)	breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(32944)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(4)|skin(2)|urinary_tract(1)	32998	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)		GAAGAGCACCTAAGAGACTTT	0.458		1	"T, Mis, O"	"ETV6, PCM1, BCR"	"ALL, AML, MPD,  CML"				Polycythemia Vera, Familial				3	54					0	0	1	0	0	C	5089777	T	C	5089777	3	2	81	1	0	0	0	0	1	0	0	0	7982	1522	53	3	2745	3	JAK2	9	5089777	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	39054	5089777	136123654	7085	10701											
CD274	29126	broad.mit.edu	37	9	5457177	5457177	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:5457177G>A	ENST00000381577.3	+	3	237	c.151G>A	c.(151-153)Gct>Act	p.A51T	CD274_ENST00000381573.4_Intron|CD274_ENST00000498261.1_3'UTR	NM_014143.3	NP_054862.1	Q9NZQ7	PD1L1_HUMAN	CD274 molecule	51	Ig-like V-type.				cell proliferation|cell surface receptor linked signaling pathway|immune response|T cell costimulation	endomembrane system|integral to membrane	receptor activity			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)	11	all_hematologic(13;0.158)	Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000742)|Lung(218;0.111)		ATTAGACCTGGCTGCACTAAT	0.403			T	CIITA	"PMBL, Hodgkin Lymphona, "								28	42					0	0	1	0	0	A	5457177	G	A	5457177	3	1	81	1	0	0	0	0	1	0	0	0	3013	1203	42	2	157	2	CD274	9	5457177	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	367400	5457177	135756254	7086	10702											
PDCD1LG2	80380	broad.mit.edu	37	9	5534953	5534953	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:5534953C>T	ENST00000397747.3	+	3	512	c.264C>T	c.(262-264)caC>caT	p.H88H	PDCD1LG2_ENST00000397745.2_Silent_p.H88H	NM_025239.3	NP_079515.2	Q9BQ51	PD1L2_HUMAN	programmed cell death 1 ligand 2	88	Ig-like V-type.				immune response|T cell costimulation	endomembrane system|extracellular region|integral to membrane|plasma membrane	receptor activity			large_intestine(2)|lung(4)|prostate(2)	8	all_hematologic(13;0.158)	Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000767)|Lung(218;0.112)		CCTCGTTCCACATACCTCAAG	0.507													6	33					0	0	1	0	0	T	5534953	C	T	5534953	2	4	81	1	0	0	0	0	0	0	0	1	11665	477	17	2		2	PDCD1LG2	9	5534953	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	77776	5534953	135678478	7087	10703											
PDCD1LG2	80380	broad.mit.edu	37	9	5534981	5534981	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:5534981G>A	ENST00000397747.3	+	3	540	c.292G>A	c.(292-294)Gga>Aga	p.G98R	PDCD1LG2_ENST00000397745.2_Missense_Mutation_p.G98R	NM_025239.3	NP_079515.2	Q9BQ51	PD1L2_HUMAN	programmed cell death 1 ligand 2	98	Ig-like V-type.				immune response|T cell costimulation	endomembrane system|extracellular region|integral to membrane|plasma membrane	receptor activity			large_intestine(2)|lung(4)|prostate(2)	8	all_hematologic(13;0.158)	Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000767)|Lung(218;0.112)		GAGGGACGAAGGACAGTACCA	0.517													11	25					0	0	1	0	0	A	5534981	G	A	5534981	3	1	81	1	0	0	0	0	1	0	0	0	11665	1001	35	2	298	2	PDCD1LG2	9	5534981	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	28	5534981	135678450	7088	10704											
KIAA1432	57589	broad.mit.edu	37	9	5747416	5747416	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:5747416A>G	ENST00000414202.2	+	12	1554	c.1363A>G	c.(1363-1365)Agt>Ggt	p.S455G	KIAA1432_ENST00000449720.2_Missense_Mutation_p.S376G|KIAA1432_ENST00000381532.2_Missense_Mutation_p.S376G|KIAA1432_ENST00000251879.6_Missense_Mutation_p.S455G|KIAA1432_ENST00000418622.3_Missense_Mutation_p.S376G	NM_001206557.1|NM_020829.3	NP_001193486.1|NP_065880.2	Q4ADV7	RIC1_HUMAN	KIAA1432	455						integral to membrane				breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1)	45		Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)		GCATAAGCCCAGTCGAGAAAA	0.468													18	54					0	0	1	0	0	G	5747416	A	G	5747416	3	3	81	1	0	0	0	0	1	0	0	0	8275	188	7	3	1168	3	KIAA1432	9	5747416	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	212435	5747416	135466015	7089	10705											
KIAA1432	57589	broad.mit.edu	37	9	5765701	5765701	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:5765701C>T	ENST00000414202.2	+	21	3231	c.3040C>T	c.(3040-3042)Cga>Tga	p.R1014*	KIAA1432_ENST00000449720.2_Nonsense_Mutation_p.R898*|KIAA1432_ENST00000381532.2_Nonsense_Mutation_p.R935*|KIAA1432_ENST00000251879.6_Nonsense_Mutation_p.R1014*|KIAA1432_ENST00000418622.3_Nonsense_Mutation_p.R935*	NM_001206557.1|NM_020829.3	NP_001193486.1|NP_065880.2	Q4ADV7	RIC1_HUMAN	KIAA1432	1014						integral to membrane				breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1)	45		Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)		CTTCAGGAATCGAAGCATCAG	0.428													15	190					0	0	1	0	0	T	5765701	C	T	5765701	4	4	81	1	0	0	0	0	0	1	0	0	8275	876	31	1	2881	1	KIAA1432	9	5765701	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	18285	5765701	135447730	7090	10706											
ERMP1	79956	broad.mit.edu	37	9	5812154	5812154	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:5812154C>A	ENST00000339450.5	-	6	1174	c.1085G>T	c.(1084-1086)aGa>aTa	p.R362I	ERMP1_ENST00000381506.3_Missense_Mutation_p.R138I|ERMP1_ENST00000214893.5_5'UTR	NM_024896.2	NP_079172.2	Q7Z2K6	ERMP1_HUMAN	endoplasmic reticulum metallopeptidase 1	362					proteolysis	endoplasmic reticulum membrane|integral to membrane	metal ion binding|metallopeptidase activity			endometrium(2)|kidney(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|skin(1)	20		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00115)|Lung(218;0.111)		TGTTAGAATTCTGTCCGCTGT	0.313													6	92					0.0293803	0.0300537	1	1	0	A	5812154	C	A	5812154	3	1	81	1	0	0	0	0	1	0	0	0	5264	913	32	4	1669	4	ERMP1	9	5812154	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	46453	5812154	135401277	7091	10707											
ERMP1	79956	broad.mit.edu	37	9	5812918	5812918	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:5812918C>T	ENST00000339450.5	-	5	1081	c.992G>A	c.(991-993)cGt>cAt	p.R331H	ERMP1_ENST00000381506.3_Missense_Mutation_p.R107H|ERMP1_ENST00000214893.5_5'UTR	NM_024896.2	NP_079172.2	Q7Z2K6	ERMP1_HUMAN	endoplasmic reticulum metallopeptidase 1	331					proteolysis	endoplasmic reticulum membrane|integral to membrane	metal ion binding|metallopeptidase activity			endometrium(2)|kidney(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|skin(1)	20		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00115)|Lung(218;0.111)		CCTGTAGATACGAAAGTCAGT	0.388													6	83					0	0	1	0	0	T	5812918	C	T	5812918	3	4	81	1	0	0	0	0	1	0	0	0	5264	536	19	1	1766	1	ERMP1	9	5812918	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	764	5812918	135400513	7092	10708											
RANBP6	26953	broad.mit.edu	37	9	6012454	6012454	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:6012454C>A	ENST00000259569.5	-	1	3164	c.3154G>T	c.(3154-3156)Gaa>Taa	p.E1052*		NM_001243202.1|NM_001243203.1|NM_012416.3	NP_001230131.1|NP_001230132.1|NP_036548.1	O60518	RNBP6_HUMAN	RAN binding protein 6	1052					protein transport	cytoplasm|nucleus	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(5)|large_intestine(8)|lung(9)|ovary(7)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)		ATTTTTCCTTCTGCAATTATA	0.373													6	55					2.0095e-06	2.30238e-06	1	1	0	A	6012454	C	A	6012454	4	1	81	1	0	0	0	0	0	1	0	0	13083	922	32	4	167	4	RANBP6	9	6012454	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	199536	6012454	135200977	7093	10709											
RANBP6	26953	broad.mit.edu	37	9	6013420	6013420	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:6013420C>T	ENST00000259569.5	-	1	2198	c.2188G>A	c.(2188-2190)Gca>Aca	p.A730T		NM_001243202.1|NM_001243203.1|NM_012416.3	NP_001230131.1|NP_001230132.1|NP_036548.1	O60518	RNBP6_HUMAN	RAN binding protein 6	730					protein transport	cytoplasm|nucleus	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(5)|large_intestine(8)|lung(9)|ovary(7)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)		TCTGCTGCTGCCACTCGAACA	0.428													35	54					0	0	1	0	0	T	6013420	C	T	6013420	3	4	81	1	0	0	0	0	1	0	0	0	13083	739	26	2	1133	2	RANBP6	9	6013420	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	966	6013420	135200011	7094	10710											
RANBP6	26953	broad.mit.edu	37	9	6014625	6014625	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:6014625T>C	ENST00000259569.5	-	1	993	c.983A>G	c.(982-984)gAc>gGc	p.D328G	RANBP6_ENST00000485372.1_Intron	NM_001243202.1|NM_001243203.1|NM_012416.3	NP_001230131.1|NP_001230132.1|NP_036548.1	O60518	RNBP6_HUMAN	RAN binding protein 6	328					protein transport	cytoplasm|nucleus	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(5)|large_intestine(8)|lung(9)|ovary(7)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)		ATTTACCCAGTCCTCATCATC	0.418													5	64					0	0	1	0	0	C	6014625	T	C	6014625	3	2	81	1	0	0	0	0	1	0	0	0	13083	1667	58	3	2338	3	RANBP6	9	6014625	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	1205	6014625	135198806	7095	10711											
IL33	90865	broad.mit.edu	37	9	6250588	6250588	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:6250588C>T	ENST00000381434.3	+	2	219	c.206C>T	c.(205-207)tCa>tTa	p.S69L	IL33_ENST00000417746.2_Intron|IL33_ENST00000456383.2_Missense_Mutation_p.S69L	NM_033439.3	NP_254274.1	O95760	IL33_HUMAN	interleukin 33	69					positive regulation of chemokine secretion|positive regulation of inflammatory response|positive regulation of macrophage activation|positive regulation of transcription from RNA polymerase II promoter	extracellular space	cytokine activity			breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|stomach(1)|urinary_tract(1)	16		Acute lymphoblastic leukemia(23;0.158)|Prostate(43;0.167)		GBM - Glioblastoma multiforme(50;0.0161)|Lung(218;0.105)		AAAAGGCCTTCACTGAAAACA	0.413													24	32					0	0	1	0	0	T	6250588	C	T	6250588	3	4	81	1	0	0	0	0	1	0	0	0	7737	838	29	2	212	2	IL33	9	6250588	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	235963	6250588	134962843	7096	10712											
TPD52L3	89882	broad.mit.edu	37	9	6328717	6328717	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:6328717C>A	ENST00000344545.5	+	1	369	c.122C>A	c.(121-123)gCt>gAt	p.A41D	TPD52L3_ENST00000381428.1_Missense_Mutation_p.A41D|TPD52L3_ENST00000314556.3_Missense_Mutation_p.A41D	NM_033516.5	NP_277051	Q96J77	TPD55_HUMAN	tumor protein D52-like 3	41							protein binding			large_intestine(1)|lung(9)|skin(1)	11		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0198)|Lung(218;0.1)		AAATTGGAGGCTGAAATTGTA	0.517													5	48					0.000602214	0.000646338	1	1	0	A	6328717	C	A	6328717	3	1	81	1	0	0	0	0	1	0	0	0	16461	797	28	4	124	4	TPD52L3	9	6328717	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	78129	6328717	134884714	7097	10713											
GLDC	2731	broad.mit.edu	37	9	6540085	6540085	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:6540085C>T	ENST00000321612.6	-	22	2781	c.2631G>A	c.(2629-2631)gaG>gaA	p.E877E		NM_000170.2	NP_000161.2	P23378	GCSP_HUMAN	glycine dehydrogenase (decarboxylating)	877					glycine catabolic process	mitochondrion	electron carrier activity|glycine dehydrogenase (decarboxylating) activity|lyase activity|pyridoxal phosphate binding			cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Acute lymphoblastic leukemia(23;0.161)		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	CATCCACAGCCTCAATATTTG	0.458													30	50					0	0	1	0	0	T	6540085	C	T	6540085	2	4	81	1	0	0	0	0	0	0	0	1	6475	680	24	2		2	GLDC	9	6540085	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	211368	6540085	134673346	7098	10714											
GLDC	2731	broad.mit.edu	37	9	6602179	6602179	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:6602179C>T	ENST00000321612.6	-	8	1235	c.1085G>A	c.(1084-1086)cGt>cAt	p.R362H		NM_000170.2	NP_000161.2	P23378	GCSP_HUMAN	glycine dehydrogenase (decarboxylating)	362					glycine catabolic process	mitochondrion	electron carrier activity|glycine dehydrogenase (decarboxylating) activity|lyase activity|pyridoxal phosphate binding			cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Acute lymphoblastic leukemia(23;0.161)		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	AAGAGCAAGACGATACACTTC	0.448													20	40					0	0	1	0	0	T	6602179	C	T	6602179	3	4	81	1	0	0	0	0	1	0	0	0	6475	536	19	1	2049	1	GLDC	9	6602179	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	62094	6602179	134611252	7099	10715											
KDM4C	23081	broad.mit.edu	37	9	6990511	6990511	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:6990511G>T	ENST00000381309.3	+	12	2338	c.1773G>T	c.(1771-1773)gcG>gcT	p.A591A	KDM4C_ENST00000381306.3_Silent_p.A591A|KDM4C_ENST00000535193.1_Silent_p.A613A|KDM4C_ENST00000442236.2_Intron|KDM4C_ENST00000536108.1_Silent_p.A410A|KDM4C_ENST00000428870.2_Silent_p.A278A|KDM4C_ENST00000543771.1_Silent_p.A591A	NM_015061.3	NP_055876.2	Q9H3R0	KDM4C_HUMAN	lysine (K)-specific demethylase 4C	591					positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	nuclear chromatin	androgen receptor binding|enzyme binding|histone demethylase activity (H3-K9 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43						AGCAGCAGGCGCCAAGTGATG	0.408													16	15					1.15088e-07	1.34837e-07	1	1	0	T	6990511	G	T	6990511	2	4	81	1	0	0	0	0	0	0	0	1	8174	1074	38	5		5	KDM4C	9	6990511	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	388332	6990511	134222920	7100	10716											
KDM4C	23081	broad.mit.edu	37	9	7013989	7013989	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:7013989C>T	ENST00000381309.3	+	14	2735	c.2170C>T	c.(2170-2172)Cgg>Tgg	p.R724W	KDM4C_ENST00000381306.3_Missense_Mutation_p.R724W|KDM4C_ENST00000535193.1_Missense_Mutation_p.R746W|KDM4C_ENST00000442236.2_Missense_Mutation_p.R469W|KDM4C_ENST00000536108.1_Missense_Mutation_p.R543W|KDM4C_ENST00000428870.2_Missense_Mutation_p.R411W|KDM4C_ENST00000543771.1_Missense_Mutation_p.R724W	NM_015061.3	NP_055876.2	Q9H3R0	KDM4C_HUMAN	lysine (K)-specific demethylase 4C	724					positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	nuclear chromatin	androgen receptor binding|enzyme binding|histone demethylase activity (H3-K9 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43						GTGCTGCGTACGGGTTCATGC	0.368													6	117					0	0	1	0	0	T	7013989	C	T	7013989	3	4	81	1	0	0	0	0	1	0	0	0	8174	527	19	1	2290	1	KDM4C	9	7013989	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	23478	7013989	134199442	7101	10717											
PTPRD	5789	broad.mit.edu	37	9	8331643	8331643	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:8331643C>T	ENST00000381196.4	-	41	6016	c.5473G>A	c.(5473-5475)Ggc>Agc	p.G1825S	PTPRD_ENST00000360074.4_Missense_Mutation_p.G1812S|PTPRD_ENST00000397611.3_Missense_Mutation_p.G1415S|PTPRD_ENST00000356435.5_Missense_Mutation_p.G1825S|PTPRD_ENST00000355233.5_Missense_Mutation_p.G1419S|PTPRD_ENST00000358503.5_Missense_Mutation_p.G1803S|PTPRD_ENST00000486161.1_Missense_Mutation_p.G1418S|PTPRD_ENST00000397606.3_Missense_Mutation_p.G1418S|PTPRD_ENST00000397617.3_Missense_Mutation_p.G1418S|PTPRD_ENST00000540109.1_Missense_Mutation_p.G1825S|PTPRD_ENST00000537002.1_Missense_Mutation_p.G1415S	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1825	Tyrosine-protein phosphatase 2.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.G1825R(2)|p.G1419R(1)|p.G1296R(1)		NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		TGGACTTGGCCGATGAAGTCA	0.463										TSP Lung(15;0.13)			6	126					0	0	1	0	0	T	8331643	C	T	8331643	3	4	81	1	0	0	0	0	1	0	0	0	12851	652	23	1	277	1	PTPRD	9	8331643	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1317654	8331643	132881788	7102	10718											
PTPRD	5789	broad.mit.edu	37	9	8340357	8340357	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:8340357G>A	ENST00000381196.4	-	39	5782	c.5239C>T	c.(5239-5241)Cgt>Tgt	p.R1747C	PTPRD_ENST00000360074.4_Missense_Mutation_p.R1734C|PTPRD_ENST00000397611.3_Missense_Mutation_p.R1337C|PTPRD_ENST00000356435.5_Missense_Mutation_p.R1747C|PTPRD_ENST00000355233.5_Missense_Mutation_p.R1341C|PTPRD_ENST00000358503.5_Missense_Mutation_p.R1725C|PTPRD_ENST00000486161.1_Missense_Mutation_p.R1340C|PTPRD_ENST00000397606.3_Missense_Mutation_p.R1340C|PTPRD_ENST00000397617.3_Missense_Mutation_p.R1340C|PTPRD_ENST00000540109.1_Missense_Mutation_p.R1747C|PTPRD_ENST00000537002.1_Missense_Mutation_p.R1337C	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1747	Tyrosine-protein phosphatase 2.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		CCCATTTCACGCAGCTTGGTG	0.488										TSP Lung(15;0.13)			24	35					0	0	1	0	0	A	8340357	G	A	8340357	3	1	81	1	0	0	0	0	1	0	0	0	12851	1087	38	1	519	1	PTPRD	9	8340357	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	8714	8340357	132873074	7103	10719											
PTPRD	5789	broad.mit.edu	37	9	8460414	8460414	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:8460414T>G	ENST00000381196.4	-	30	4415	c.3872A>C	c.(3871-3873)aAa>aCa	p.K1291T	PTPRD_ENST00000360074.4_Missense_Mutation_p.K1278T|PTPRD_ENST00000397611.3_Missense_Mutation_p.K877T|PTPRD_ENST00000356435.5_Missense_Mutation_p.K1291T|PTPRD_ENST00000355233.5_Missense_Mutation_p.K880T|PTPRD_ENST00000358503.5_Missense_Mutation_p.K1269T|PTPRD_ENST00000486161.1_Missense_Mutation_p.K880T|PTPRD_ENST00000397606.3_Missense_Mutation_p.K870T|PTPRD_ENST00000397617.3_Missense_Mutation_p.K870T|PTPRD_ENST00000540109.1_Missense_Mutation_p.K1291T|PTPRD_ENST00000537002.1_Missense_Mutation_p.K877T	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1291					transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		AACCTACCTTTTATAAAGAAG	0.398										TSP Lung(15;0.13)			30	47					0	0	1	0	0	G	8460414	T	G	8460414	3	3	81	1	0	0	0	0	1	0	0	0	12851	1841	64	5	1987	5	PTPRD	9	8460414	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	120057	8460414	132753017	7104	10720											
PTPRD	5789	broad.mit.edu	37	9	8471069	8471069	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:8471069T>A	ENST00000381196.4	-	28	3973	c.3430A>T	c.(3430-3432)Att>Ttt	p.I1144F	PTPRD_ENST00000360074.4_Missense_Mutation_p.I1131F|PTPRD_ENST00000397611.3_Missense_Mutation_p.I730F|PTPRD_ENST00000356435.5_Missense_Mutation_p.I1144F|PTPRD_ENST00000355233.5_Missense_Mutation_p.I733F|PTPRD_ENST00000358503.5_Missense_Mutation_p.I1122F|PTPRD_ENST00000486161.1_Missense_Mutation_p.I733F|PTPRD_ENST00000397606.3_Missense_Mutation_p.I723F|PTPRD_ENST00000397617.3_Missense_Mutation_p.I723F|PTPRD_ENST00000540109.1_Missense_Mutation_p.I1144F|PTPRD_ENST00000537002.1_Missense_Mutation_p.I730F	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1144					transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		AAAGGCACAATTATTATGTAG	0.393										TSP Lung(15;0.13)			43	74					0	0	1	0	0	A	8471069	T	A	8471069	3	1	81	1	0	0	0	0	1	0	0	0	12851	1493	52	4	2437	4	PTPRD	9	8471069	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	10655	8471069	132742362	7105	10721											
PTPRD	5789	broad.mit.edu	37	9	8501014	8501014	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:8501014G>A	ENST00000381196.4	-	21	2411	c.1868C>T	c.(1867-1869)tCc>tTc	p.S623F	PTPRD_ENST00000360074.4_Missense_Mutation_p.S610F|PTPRD_ENST00000397611.3_Intron|PTPRD_ENST00000356435.5_Missense_Mutation_p.S623F|PTPRD_ENST00000355233.5_Intron|PTPRD_ENST00000358503.5_Missense_Mutation_p.S610F|PTPRD_ENST00000486161.1_Intron|PTPRD_ENST00000397606.3_Intron|PTPRD_ENST00000397617.3_Intron|PTPRD_ENST00000471274.1_5'UTR|PTPRD_ENST00000540109.1_Missense_Mutation_p.S623F|PTPRD_ENST00000537002.1_Intron	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	623	Fibronectin type-III 4.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.S623F(1)		NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		AATACTAGTGGAACTTGGGCT	0.443										TSP Lung(15;0.13)			24	21					0	0	1	0	0	A	8501014	G	A	8501014	3	1	81	1	0	0	0	0	1	0	0	0	12851	1174	41	2	4030	2	PTPRD	9	8501014	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	29945	8501014	132712417	7106	10722											
TYRP1	7306	broad.mit.edu	37	9	12695729	12695729	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:12695729C>T	ENST00000388918.5	+	3	729	c.600C>T	c.(598-600)ttC>ttT	p.F200F	TYRP1_ENST00000381137.2_5'UTR|TYRP1_ENST00000381136.2_5'UTR	NM_000550.2	NP_000541.1	P17643	TYRP1_HUMAN	tyrosinase-related protein 1	200					melanin biosynthetic process	clathrin-coated endocytic vesicle membrane|endosome membrane|integral to membrane|melanosome membrane	copper ion binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, another compound as one donor, and incorporation of one atom of oxygen|protein heterodimerization activity|protein homodimerization activity			NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|stomach(1)	22		all_cancers(3;3.1e-05)|all_lung(3;1.7e-06)|Lung NSC(3;2.09e-06)|all_epithelial(3;0.000695)|all_hematologic(3;0.0033)|Acute lymphoblastic leukemia(23;0.0744)		GBM - Glioblastoma multiforme(50;9.85e-06)		AAAAGACTTTCCTTGGGGTAG	0.448									Oculocutaneous Albinism				28	57					0	0	1	0	0	T	12695729	C	T	12695729	2	4	81	1	0	0	0	0	0	0	0	1	16878	854	30	2		2	TYRP1	9	12695729	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	4194715	12695729	128517702	7107	10723											
TYRP1	7306	broad.mit.edu	37	9	12702354	12702354	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:12702354G>A	ENST00000388918.5	+	5	1126	c.997G>A	c.(997-999)Gtc>Atc	p.V333I	TYRP1_ENST00000381137.2_Missense_Mutation_p.V43I|RP11-3L8.3_ENST00000417638.1_RNA|TYRP1_ENST00000381136.2_Missense_Mutation_p.V43I	NM_000550.2	NP_000541.1	P17643	TYRP1_HUMAN	tyrosinase-related protein 1	333					melanin biosynthetic process	clathrin-coated endocytic vesicle membrane|endosome membrane|integral to membrane|melanosome membrane	copper ion binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, another compound as one donor, and incorporation of one atom of oxygen|protein heterodimerization activity|protein homodimerization activity			NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|stomach(1)	22		all_cancers(3;3.1e-05)|all_lung(3;1.7e-06)|Lung NSC(3;2.09e-06)|all_epithelial(3;0.000695)|all_hematologic(3;0.0033)|Acute lymphoblastic leukemia(23;0.0744)		GBM - Glioblastoma multiforme(50;9.85e-06)		ACCACAGGATGTCGCTCAGTG	0.463									Oculocutaneous Albinism				17	30					0	0	1	0	0	A	12702354	G	A	12702354	3	1	81	1	0	0	0	0	1	0	0	0	16878	1377	48	2	1011	2	TYRP1	9	12702354	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	6625	12702354	128511077	7108	10724											
MPDZ	8777	broad.mit.edu	37	9	13107046	13107046	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:13107046C>A	ENST00000319217.7	-	47	6378	c.6131G>T	c.(6130-6132)aGt>aTt	p.S2044I	MPDZ_ENST00000381022.2_Missense_Mutation_p.S2015I|MPDZ_ENST00000541093.1_Missense_Mutation_p.S278I|MPDZ_ENST00000447879.1_Missense_Mutation_p.S2011I|MPDZ_ENST00000536827.1_Missense_Mutation_p.S1982I|MPDZ_ENST00000546205.1_Missense_Mutation_p.S2058I|MPDZ_ENST00000541718.1_Missense_Mutation_p.S2015I|MPDZ_ENST00000381015.4_Missense_Mutation_p.S2044I|MPDZ_ENST00000538841.1_Missense_Mutation_p.S903I	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	2044	PDZ 13.				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		TCCTTCTAGACTCTGCCCATT	0.448													49	111					3.50607e-19	4.56197e-19	1	1	0	A	13107046	C	A	13107046	3	1	81	1	0	0	0	0	1	0	0	0	9771	565	20	4	85	4	MPDZ	9	13107046	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	404692	13107046	128106385	7109	10725											
MPDZ	8777	broad.mit.edu	37	9	13119520	13119520	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:13119520G>A	ENST00000319217.7	-	39	5607	c.5360C>T	c.(5359-5361)gCg>gTg	p.A1787V	MPDZ_ENST00000381022.2_Missense_Mutation_p.A1787V|MPDZ_ENST00000541093.1_Missense_Mutation_p.A21V|MPDZ_ENST00000447879.1_Missense_Mutation_p.A1754V|MPDZ_ENST00000536827.1_Missense_Mutation_p.A1754V|MPDZ_ENST00000546205.1_Missense_Mutation_p.A1801V|MPDZ_ENST00000541718.1_Missense_Mutation_p.A1787V|MPDZ_ENST00000381015.4_Missense_Mutation_p.A1787V|MPDZ_ENST00000538841.1_Missense_Mutation_p.A646V	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	1787	PDZ 11.				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		AGCGGCAACCGCTTCTTGGGT	0.388													13	82					0	0	1	0	0	A	13119520	G	A	13119520	3	1	81	1	0	0	0	0	1	0	0	0	9771	1087	38	1	797	1	MPDZ	9	13119520	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	12474	13119520	128093911	7110	10726											
MPDZ	8777	broad.mit.edu	37	9	13122139	13122139	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:13122139C>T	ENST00000319217.7	-	37	5231	c.4984G>A	c.(4984-4986)Gaa>Aaa	p.E1662K	MPDZ_ENST00000381022.2_Missense_Mutation_p.E1662K|MPDZ_ENST00000541093.1_Intron|MPDZ_ENST00000447879.1_Missense_Mutation_p.E1629K|MPDZ_ENST00000536827.1_Missense_Mutation_p.E1629K|MPDZ_ENST00000546205.1_Missense_Mutation_p.E1676K|MPDZ_ENST00000541718.1_Missense_Mutation_p.E1662K|MPDZ_ENST00000381015.4_Missense_Mutation_p.E1662K|MPDZ_ENST00000538841.1_Missense_Mutation_p.E521K	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	1662	PDZ 10.				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		GCTGCTCCTTCTTCATAAACT	0.418													11	32					0	0	1	0	0	T	13122139	C	T	13122139	3	4	81	1	0	0	0	0	1	0	0	0	9771	922	32	2	1181	2	MPDZ	9	13122139	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2619	13122139	128091292	7111	10727											
MPDZ	8777	broad.mit.edu	37	9	13168512	13168512	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:13168512A>G	ENST00000319217.7	-	22	3354	c.3107T>C	c.(3106-3108)aTt>aCt	p.I1036T	MPDZ_ENST00000381022.2_Missense_Mutation_p.I1036T|MPDZ_ENST00000447879.1_Missense_Mutation_p.I1036T|MPDZ_ENST00000536827.1_Missense_Mutation_p.I1036T|MPDZ_ENST00000546205.1_Missense_Mutation_p.I1036T|MPDZ_ENST00000541718.1_Missense_Mutation_p.I1036T|MPDZ_ENST00000381015.4_Missense_Mutation_p.I1036T	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	1036	PDZ 6.				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		TCCATGAATAATGCTTCGAAC	0.403													91	129					0	0	1	0	0	G	13168512	A	G	13168512	3	3	81	1	0	0	0	0	1	0	0	0	9771	101	4	3	3118	3	MPDZ	9	13168512	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	46373	13168512	128044919	7112	10728											
MPDZ	8777	broad.mit.edu	37	9	13222443	13222443	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:13222443T>G	ENST00000319217.7	-	6	783	c.536A>C	c.(535-537)gAt>gCt	p.D179A	MPDZ_ENST00000381022.2_Missense_Mutation_p.D179A|MPDZ_ENST00000447879.1_Missense_Mutation_p.D179A|MPDZ_ENST00000536827.1_Missense_Mutation_p.D179A|MPDZ_ENST00000546205.1_Missense_Mutation_p.D179A|MPDZ_ENST00000541718.1_Missense_Mutation_p.D179A|MPDZ_ENST00000381015.4_Missense_Mutation_p.D179A	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	179	PDZ 1.				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		CAATCTTCCATCTCTATCAAG	0.388													6	102					0	0	1	0	0	G	13222443	T	G	13222443	3	3	81	1	0	0	0	0	1	0	0	0	9771	1435	50	4	5753	4	MPDZ	9	13222443	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	53931	13222443	127990988	7113	10729											
NFIB	4781	broad.mit.edu	37	9	14150255	14150255	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:14150255G>A	ENST00000380959.3	-	5	1168	c.695C>T	c.(694-696)aCc>aTc	p.T232I	NFIB_ENST00000543693.1_5'UTR|NFIB_ENST00000397575.3_Missense_Mutation_p.T232I|NFIB_ENST00000397579.2_Missense_Mutation_p.T232I|NFIB_ENST00000397581.2_Missense_Mutation_p.T232I|NFIB_ENST00000380934.4_Missense_Mutation_p.T258I|NFIB_ENST00000380924.1_5'UTR|NFIB_ENST00000380953.1_Missense_Mutation_p.T232I	NM_005596.3	NP_005587.2	O00712	NFIB_HUMAN	nuclear factor I/B	232					anterior commissure morphogenesis|chondrocyte differentiation|Clara cell differentiation|commissural neuron axon guidance|DNA replication|glial cell differentiation|lung ciliated cell differentiation|negative regulation of DNA binding|negative regulation of epithelial cell proliferation involved in lung morphogenesis|negative regulation of mesenchymal cell proliferation involved in lung development|positive regulation of transcription from RNA polymerase II promoter|principal sensory nucleus of trigeminal nerve development|Type I pneumocyte differentiation|Type II pneumocyte differentiation	cerebellar mossy fiber|nucleolus|nucleus	RNA polymerase II transcription corepressor activity|sequence-specific DNA binding RNA polymerase II transcription factor activity			central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(50;4.4e-08)|LUAD - Lung adenocarcinoma(58;0.119)|Lung(218;0.164)		AGTTCCCTGGGTTATGGGCGC	0.443			T	"MYB, HGMA2"	"adenoid cystic carcinoma, lipoma"								7	227					0	0	1	0	0	A	14150255	G	A	14150255	3	1	81	1	0	0	0	0	1	0	0	0	10418	1261	44	2	587	2	NFIB	9	14150255	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	927812	14150255	127063176	7114	10730											
CER1	9350	broad.mit.edu	37	9	14722362	14722362	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:14722362C>T	ENST00000380911.3	-	1	353	c.309G>A	c.(307-309)gaG>gaA	p.E103E		NM_005454.2	NP_005445.1	O95813	CER1_HUMAN	cerberus 1, DAN family BMP antagonist	103					BMP signaling pathway	extracellular space	cytokine activity			endometrium(2)|large_intestine(3)|lung(6)	11				GBM - Glioblastoma multiforme(50;3.16e-06)		GTGGGAAGGGCTCACTATCTG	0.522													14	32					0	0	1	0	0	T	14722362	C	T	14722362	2	4	81	1	0	0	0	0	0	0	0	1	3287	796	28	2		2	CER1	9	14722362	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	572107	14722362	126491069	7115	10731											
FREM1	158326	broad.mit.edu	37	9	14747275	14747275	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:14747275T>C	ENST00000380881.4	-	34	6814	c.5999A>G	c.(5998-6000)cAc>cGc	p.H2000R	FREM1_ENST00000422223.2_Missense_Mutation_p.H1999R|FREM1_ENST00000380880.3_Missense_Mutation_p.H1999R|FREM1_ENST00000380894.1_Missense_Mutation_p.H535R			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	1999					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		TCTGGGGAAGTGTGAGTCAGT	0.418													15	161					0	0	1	0	0	C	14747275	T	C	14747275	3	2	81	1	0	0	0	0	1	0	0	0	6079	1696	59	3	563	3	FREM1	9	14747275	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	24913	14747275	126466156	7116	10732											
FREM1	158326	broad.mit.edu	37	9	14748498	14748498	+	Silent	SNP	A	A	C	rs17852893		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:14748498A>C	ENST00000380881.4	-	32	6515	c.5700T>G	c.(5698-5700)tcT>tcG	p.S1900S	FREM1_ENST00000422223.2_Silent_p.S1899S|FREM1_ENST00000380880.3_Silent_p.S1899S|FREM1_ENST00000380894.1_Silent_p.S435S			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	1899					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		GCTGCATGGAAGATGGAAGAG	0.522													13	141					0	0	1	0	0	C	14748498	A	C	14748498	2	2	81	1	0	0	0	0	0	0	0	1	6079	59	3	5		5	FREM1	9	14748498	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	1223	14748498	126464933	7117	10733											
FREM1	158326	broad.mit.edu	37	9	14770771	14770771	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:14770771T>C	ENST00000380881.4	-	27	5709	c.4894A>G	c.(4894-4896)Aca>Gca	p.T1632A	FREM1_ENST00000486223.1_5'UTR|FREM1_ENST00000422223.2_Missense_Mutation_p.T1631A|FREM1_ENST00000380880.3_Missense_Mutation_p.T1631A|FREM1_ENST00000380894.1_Missense_Mutation_p.T167A			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	1631					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		TGCAAGAGTGTGATACGAGGA	0.493													11	16					0	0	1	0	0	C	14770771	T	C	14770771	3	2	81	1	0	0	0	0	1	0	0	0	6079	1696	59	3	1696	3	FREM1	9	14770771	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	22273	14770771	126442660	7118	10734											
FREM1	158326	broad.mit.edu	37	9	14808009	14808009	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:14808009G>A	ENST00000380881.4	-	18	3835	c.3020C>T	c.(3019-3021)gCg>gTg	p.A1007V	FREM1_ENST00000422223.2_Missense_Mutation_p.A1006V|FREM1_ENST00000380880.3_Missense_Mutation_p.A1006V			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	1006					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		TGGAAAGGACGCATGAAGTGG	0.453													48	109					0	0	1	0	0	A	14808009	G	A	14808009	3	1	81	1	0	0	0	0	1	0	0	0	6079	1087	38	1	3656	1	FREM1	9	14808009	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	37238	14808009	126405422	7119	10735											
FREM1	158326	broad.mit.edu	37	9	14819255	14819255	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:14819255G>A	ENST00000380881.4	-	15	3341	c.2526C>T	c.(2524-2526)ggC>ggT	p.G842G	FREM1_ENST00000422223.2_Silent_p.G841G|FREM1_ENST00000380880.3_Silent_p.G841G			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	841					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		TATGGAGATCGCCCCAAGAAA	0.423													6	28					0	0	1	0	0	A	14819255	G	A	14819255	2	1	81	1	0	0	0	0	0	0	0	1	6079	1074	38	1		1	FREM1	9	14819255	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	11246	14819255	126394176	7120	10736											
PSIP1	11168	broad.mit.edu	37	9	15479598	15479598	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:15479598G>A	ENST00000380733.4	-	7	887	c.544C>T	c.(544-546)Cga>Tga	p.R182*	PSIP1_ENST00000380716.4_Nonsense_Mutation_p.R182*|PSIP1_ENST00000380715.1_Nonsense_Mutation_p.R182*|PSIP1_ENST00000380738.4_Nonsense_Mutation_p.R182*|PSIP1_ENST00000397519.2_Nonsense_Mutation_p.R182*			O75475	PSIP1_HUMAN	PC4 and SFRS1 interacting protein 1	182					initiation of viral infection|interspecies interaction between organisms|nuclear mRNA 5'-splice site recognition|provirus integration|regulation of transcription, DNA-dependent|response to heat|response to oxidative stress|transcription, DNA-dependent	cytosol|nuclear heterochromatin|nuclear periphery|nucleoplasm|transcriptionally active chromatin	activating transcription factor binding|chromatin binding|DNA secondary structure binding|RNA polymerase II transcription coactivator activity			breast(2)|endometrium(2)|kidney(1)|lung(3)|prostate(1)	9				GBM - Glioblastoma multiforme(50;2.38e-06)		CCTGCAGGTCGTCCTCTTTTA	0.373													25	43					0	0	1	0	0	A	15479598	G	A	15479598	4	1	81	1	0	0	0	0	0	1	0	0	12712	1153	40	1	1117	1	PSIP1	9	15479598	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	660343	15479598	125733833	7121	10737											
BNC2	54796	broad.mit.edu	37	9	16727882	16727882	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:16727882G>A	ENST00000380672.4	-	3	300	c.243C>T	c.(241-243)ttC>ttT	p.F81F	BNC2_ENST00000380667.2_Intron|BNC2_ENST00000545497.1_Intron|BNC2_ENST00000380666.2_Silent_p.F81F	NM_017637.5	NP_060107.3	Q6ZN30	BNC2_HUMAN	basonuclin 2	81					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		TTCTGGTTCCGAACTGCATGG	0.468													54	87					0	0	1	0	0	A	16727882	G	A	16727882	2	1	81	1	0	0	0	0	0	0	0	1	1474	1049	37	1		1	BNC2	9	16727882	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1248284	16727882	124485549	7122	10738											
SH3GL2	6456	broad.mit.edu	37	9	17786520	17786520	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:17786520T>C	ENST00000380607.4	+	4	449	c.329T>C	c.(328-330)tTt>tCt	p.F110S	SH3GL2_ENST00000537391.1_Missense_Mutation_p.F63S	NM_003026.2	NP_003017.1	Q99962	SH3G2_HUMAN	SH3-domain GRB2-like 2	110	BAR.|Binds and tubulates liposomes (By similarity).				axon guidance|central nervous system development|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport	cytosol|Golgi membrane|plasma membrane	identical protein binding|lipid binding			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(50;2.71e-10)|Lung(42;0.203)		GATTGCAACTTTGGTAACAAG	0.468													5	44					0	0	1	0	0	C	17786520	T	C	17786520	3	2	81	1	0	0	0	0	1	0	0	0	14306	1841	64	3	343	3	SH3GL2	9	17786520	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	1058638	17786520	123426911	7123	10739											
ADAMTSL1	92949	broad.mit.edu	37	9	18639269	18639269	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:18639269C>A	ENST00000380548.4	+	7	1033	c.694C>A	c.(694-696)Ctc>Atc	p.L232I	ADAMTSL1_ENST00000327883.7_Missense_Mutation_p.L232I|ADAMTSL1_ENST00000276935.6_Missense_Mutation_p.L232I|ADAMTSL1_ENST00000380566.4_Missense_Mutation_p.L232I	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	232						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		AACCAAAACCCTCCAGGGGAC	0.428													5	39					3.59834e-05	3.99423e-05	1	1	0	A	18639269	C	A	18639269	3	1	81	1	0	0	0	0	1	0	0	0	273	681	24	4	720	4	ADAMTSL1	9	18639269	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	852749	18639269	122574162	7124	10740											
ADAMTSL1	92949	broad.mit.edu	37	9	18661965	18661965	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:18661965C>T	ENST00000380548.4	+	9	1318	c.979C>T	c.(979-981)Ctg>Ttg	p.L327L	ADAMTSL1_ENST00000327883.7_Silent_p.L327L|ADAMTSL1_ENST00000276935.6_Silent_p.L327L|ADAMTSL1_ENST00000380566.4_Silent_p.L327L	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	327						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		GTGCTACGATCTGAGGAGCAA	0.438													28	41					0	0	1	0	0	T	18661965	C	T	18661965	2	4	81	1	0	0	0	0	0	0	0	1	273	912	32	2		2	ADAMTSL1	9	18661965	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	22696	18661965	122551466	7125	10741											
ADAMTSL1	92949	broad.mit.edu	37	9	18680537	18680537	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:18680537T>C	ENST00000380566.4	+	10	1377	c.1313T>C	c.(1312-1314)gTt>gCt	p.V438A	ADAMTSL1_ENST00000327883.7_Intron|ADAMTSL1_ENST00000276935.6_Intron|ADAMTSL1_ENST00000380548.4_Intron			Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	1625	TSP type-1 3.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		TCTTTCTTTGTTCATTAGGAG	0.527													15	33					0	0	1	0	0	C	18680537	T	C	18680537	3	2	81	1	0	0	0	0	1	0	0	0	273	1740	60	3		3	ADAMTSL1	9	18680537	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	18572	18680537	122532894	7126	10742											
ADAMTSL1	92949	broad.mit.edu	37	9	18721614	18721614	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:18721614C>T	ENST00000380548.4	+	15	2296	c.1957C>T	c.(1957-1959)Cgg>Tgg	p.R653W	ADAMTSL1_ENST00000276935.6_Missense_Mutation_p.R653W	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	653	TSP type-1 5.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		GACCAGCCGCCGGCCCCCACA	0.602													20	30					0	0	1	0	0	T	18721614	C	T	18721614	3	4	81	1	0	0	0	0	1	0	0	0	273	643	23	1	2019	1	ADAMTSL1	9	18721614	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	41077	18721614	122491817	7127	10743											
ADAMTSL1	92949	broad.mit.edu	37	9	18776887	18776887	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:18776887C>T	ENST00000380548.4	+	19	2999	c.2660C>T	c.(2659-2661)gCc>gTc	p.A887V		NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	887	Ig-like C2-type 1.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		GGGGGCTTCGCCTACCTGCTC	0.677													6	12					0	0	1	0	0	T	18776887	C	T	18776887	3	4	81	1	0	0	0	0	1	0	0	0	273	739	26	2	2738	2	ADAMTSL1	9	18776887	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	55273	18776887	122436544	7128	10744											
ADAMTSL1	92949	broad.mit.edu	37	9	18777290	18777290	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:18777290C>T	ENST00000380548.4	+	19	3402	c.3063C>T	c.(3061-3063)taC>taT	p.Y1021Y		NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	1021						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		GGAGCCGCTACGACGACCTCG	0.692													6	2					0	0	1	0	0	T	18777290	C	T	18777290	2	4	81	1	0	0	0	0	0	0	0	1	273	547	19	1		1	ADAMTSL1	9	18777290	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	403	18777290	122436141	7129	10745											
ADAMTSL1	92949	broad.mit.edu	37	9	18777746	18777746	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:18777746C>T	ENST00000380548.4	+	19	3858	c.3519C>T	c.(3517-3519)gcC>gcT	p.A1173A		NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	1173	Ig-like C2-type 2.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		TCTCAGCGGCCCAGCAGCTCT	0.687													6	8					0	0	1	0	0	T	18777746	C	T	18777746	2	4	81	1	0	0	0	0	0	0	0	1	273	610	22	2		2	ADAMTSL1	9	18777746	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	456	18777746	122435685	7130	10746											
ADAMTSL1	92949	broad.mit.edu	37	9	18795491	18795491	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:18795491C>T	ENST00000380548.4	+	20	4113	c.3774C>T	c.(3772-3774)taC>taT	p.Y1258Y	ADAMTSL1_ENST00000496521.2_3'UTR	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	1258	Ig-like C2-type 2.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		CCTTGGGATACGACTCTGTCT	0.443													10	20					0	0	1	0	0	T	18795491	C	T	18795491	2	4	81	1	0	0	0	0	0	0	0	1	273	547	19	1		1	ADAMTSL1	9	18795491	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	17745	18795491	122417940	7131	10747											
ADAMTSL1	92949	broad.mit.edu	37	9	18889718	18889718	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:18889718G>A	ENST00000380548.4	+	25	4954	c.4615G>A	c.(4615-4617)Gcg>Acg	p.A1539T	ADAMTSL1_ENST00000380545.5_Missense_Mutation_p.A240T	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	1539						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		GCAGCCCATCGCGTGCAACCG	0.667													9	11					0	0	1	0	0	A	18889718	G	A	18889718	3	1	81	1	0	0	0	0	1	0	0	0	273	1087	38	1	4717	1	ADAMTSL1	9	18889718	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	94227	18889718	122323713	7132	10748											
FAM154A	158297	broad.mit.edu	37	9	18928081	18928081	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:18928081G>T	ENST00000380534.4	-	4	1673	c.1394C>A	c.(1393-1395)cCc>cAc	p.P465H	FAM154A_ENST00000380530.1_3'UTR|FAM154A_ENST00000542071.1_Missense_Mutation_p.P273H	NM_153707.2	NP_714918.2	Q8IYX7	F154A_HUMAN	family with sequence similarity 154, member A	465										breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|skin(1)	26				GBM - Glioblastoma multiforme(50;6.53e-16)		CCTCTGGTTGGGGTTTTCTGA	0.403													54	74					7.10676e-39	9.53815e-39	1	1	0	T	18928081	G	T	18928081	3	4	81	1	0	0	0	0	1	0	0	0	5493	1232	43	5	34	5	FAM154A	9	18928081	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	38363	18928081	122285350	7133	10749											
RRAGA	10670	broad.mit.edu	37	9	19050474	19050474	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:19050474A>G	ENST00000380527.1	+	1	1103	c.817A>G	c.(817-819)Atg>Gtg	p.M273V		NM_006570.4	NP_006561.1	Q7L523	RRAGA_HUMAN	Ras-related GTP binding A	273					apoptosis|cellular protein localization|cellular response to amino acid stimulus|positive regulation of cytolysis|positive regulation of TOR signaling cascade|virus-host interaction	Golgi apparatus|lysosome|nucleus	GTP binding|phosphoprotein binding|protein heterodimerization activity|protein homodimerization activity			endometrium(1)|large_intestine(1)|lung(1)	3						TACGTACGTGATGGTGGTCAT	0.512													12	85					0	0	1	0	0	G	19050474	A	G	19050474	3	3	81	1	0	0	0	0	1	0	0	0	13724	333	12	3	819	3	RRAGA	9	19050474	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	122393	19050474	122162957	7134	10750											
HAUS6	54801	broad.mit.edu	37	9	19102726	19102726	+	Translation_Start_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:19102726C>A	ENST00000380502.3	-	0	391					NM_001270890.1|NM_017645.4	NP_001257819.1|NP_060115.3	Q7Z4H7	HAUS6_HUMAN	HAUS augmin-like complex, subunit 6						cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|nucleus|spindle				autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						AGATCCCTCCCTACGGTCAGC	0.632													3	12					0.004672	0.00489345	1	1	0	A	19102726	C	A	19102726	1	1	81	1	0	0	0	0	0	0	0	0	7011	696	24	4		4	HAUS6	9	19102726	Translation_Start_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	52252	19102726	122110705	7135	10751											
PLIN2	123	broad.mit.edu	37	9	19123610	19123610	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:19123610C>A	ENST00000276914.2	-	4	441	c.262G>T	c.(262-264)Gac>Tac	p.D88Y	PLIN2_ENST00000411567.1_Missense_Mutation_p.D88Y|PLIN2_ENST00000380464.3_Missense_Mutation_p.D88Y|PLIN2_ENST00000380465.3_Missense_Mutation_p.D88Y	NM_001122.3	NP_001113.2	Q99541	PLIN2_HUMAN	perilipin 2	88					cellular lipid metabolic process	endoplasmic reticulum|extracellular region|lipid particle				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	19						TCAATCCTGTCTAGCCCCTTA	0.413													17	29					3.62473e-10	4.42231e-10	1	1	0	A	19123610	C	A	19123610	3	1	81	1	0	0	0	0	1	0	0	0	12138	913	32	4	1071	4	PLIN2	9	19123610	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	20884	19123610	122089821	7136	10752											
DENND4C	55667	broad.mit.edu	37	9	19369969	19369969	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:19369969G>T	ENST00000380432.2	+	26	4837	c.4804G>T	c.(4804-4806)Ggc>Tgc	p.G1602C	DENND4C_ENST00000602925.1_Missense_Mutation_p.G1838C|DENND4C_ENST00000434457.2_Missense_Mutation_p.G1887C			Q5VZ89	DEN4C_HUMAN	DENN/MADD domain containing 4C	1602						integral to membrane				breast(1)|endometrium(8)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						AATGAAGCCAGGCATGAAAAG	0.333													6	79					5.9392e-07	6.87481e-07	1	1	0	T	19369969	G	T	19369969	3	4	81	1	0	0	0	0	1	0	0	0	4463	1000	35	4	4906	4	DENND4C	9	19369969	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	246359	19369969	121843462	7137	10753											
SLC24A2	25769	broad.mit.edu	37	9	19550257	19550257	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:19550257C>T	ENST00000341998.2	-	7	1418	c.1357G>A	c.(1357-1359)Gag>Aag	p.E453K	SLC24A2_ENST00000286344.3_Missense_Mutation_p.E436K	NM_001193288.2|NM_020344.3	NP_001180217.1|NP_065077.1	Q9UI40	NCKX2_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 2	453					visual perception	integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			endometrium(3)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33				GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443)		TCCTCCTCCTCATCAGCGGTC	0.458													45	63					0	0	1	0	0	T	19550257	C	T	19550257	3	4	81	1	0	0	0	0	1	0	0	0	14521	835	29	2	644	2	SLC24A2	9	19550257	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	180288	19550257	121663174	7138	10754											
MLLT3	4300	broad.mit.edu	37	9	20414197	20414197	+	Translation_Start_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:20414197C>T	ENST00000355930.6	-	0	905				MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Missense_Mutation_p.S213N|MLLT3_ENST00000380338.4_Missense_Mutation_p.S216N			P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		TTTGAAGGCACTTTTATGTTC	0.393			T	MLL	ALL								30	274					0	0	1	0	0	T	20414197	C	T	20414197	1	4	81	1	0	0	0	0	0	0	0	0	9676	565	20	2		2	MLLT3	9	20414197	Translation_Start_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	863940	20414197	120799234	7139	10755											
PTPLAD2	401494	broad.mit.edu	37	9	21015896	21015896	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:21015896C>T	ENST00000495827.2	-	4	429		c.e4+1		PTPLAD2_ENST00000488436.1_5'UTR|PTPLAD2_ENST00000513293.2_Splice_Site	NM_001010915.3	NP_001010915.2	Q5VWC8	HACD4_HUMAN	protein tyrosine phosphatase-like A domain containing 2						fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	lyase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)	10				Lung(24;6.02e-14)|LUSC - Lung squamous cell carcinoma(38;1.29e-10)		TGCCTTCTTACCTAACCATAT	0.378													9	74					0	0	1	0	0	T	21015896	C	T	21015896	5	4	81	1	0	0	0	0	0	0	1	0	12826	521	18	2	330	2	PTPLAD2	9	21015896	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	601699	21015896	120197535	7140	10756											
IFNW1	3467	broad.mit.edu	37	9	21141206	21141206	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:21141206A>T	ENST00000380229.2	-	1	938	c.364T>A	c.(364-366)Tgc>Agc	p.C122S		NM_002177.1	NP_002168.1	P05000	IFNW1_HUMAN	interferon, omega 1	122					cell cycle arrest|defense response|response to virus	extracellular space	cytokine activity|cytokine receptor binding			endometrium(1)|kidney(1)|lung(2)|ovary(1)	5				GBM - Glioblastoma multiforme(5;2.35e-185)|Lung(24;2.24e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		TGCAGCAAGCAGGTCTCCAGG	0.557													20	32					0	0	1	0	0	T	21141206	A	T	21141206	3	4	81	1	0	0	0	0	1	0	0	0	7596	188	7	5	227	5	IFNW1	9	21141206	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	125310	21141206	120072225	7141	10757											
IFNA21	3452	broad.mit.edu	37	9	21166323	21166323	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:21166323A>G	ENST00000380225.1	-	1	336	c.289T>C	c.(289-291)Tct>Cct	p.S97P		NM_002175.2	NP_002166.2	P01568	IFN21_HUMAN	interferon, alpha 21	97					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(3)	14				GBM - Glioblastoma multiforme(5;1.93e-187)|Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		CAAGTAGCAGATGAGTCCTTT	0.498													18	114					0	0	1	0	0	G	21166323	A	G	21166323	3	3	81	1	0	0	0	0	1	0	0	0	7582	333	12	3	284	3	IFNA21	9	21166323	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	25117	21166323	120047108	7142	10758											
IFNA7	3444	broad.mit.edu	37	9	21201944	21201944	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:21201944G>A	ENST00000239347.3	-	1	260	c.221C>T	c.(220-222)aCt>aTt	p.T74I		NM_021057.2	NP_066401.2	P01567	IFNA7_HUMAN	interferon, alpha 7	74					blood coagulation|cell-cell signaling|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding			endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(6)	12				GBM - Glioblastoma multiforme(5;4.75e-197)|Lung(24;1.26e-23)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		GATGGCTTGAGTCTTCTGGAA	0.488													45	77					0	0	1	0	0	A	21201944	G	A	21201944	3	1	81	1	0	0	0	0	1	0	0	0	7586	1029	36	2	352	2	IFNA7	9	21201944	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	35621	21201944	120011487	7143	10759											
KLHL9	55958	broad.mit.edu	37	9	21333832	21333832	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:21333832C>A	ENST00000359039.4	-	1	1547	c.1027G>T	c.(1027-1029)Gct>Tct	p.A343S	KLHL9_ENST00000537938.1_Missense_Mutation_p.A275S			Q9P2J3	KLHL9_HUMAN	kelch-like family member 9	343					cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex|midbody				endometrium(9)|large_intestine(7)|lung(10)|ovary(4)|skin(2)	32				Lung(24;8.52e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.118)		CCAATGACAGCAATACCATGC	0.408													38	61					8.69298e-16	1.11162e-15	1	1	0	A	21333832	C	A	21333832	3	1	81	1	0	0	0	0	1	0	0	0	8439	710	25	5	830	5	KLHL9	9	21333832	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	131888	21333832	119879599	7144	10760											
KLHL9	55958	broad.mit.edu	37	9	21334319	21334319	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:21334319G>A	ENST00000359039.4	-	1	1060	c.540C>T	c.(538-540)aaC>aaT	p.N180N	KLHL9_ENST00000537938.1_Silent_p.N112N			Q9P2J3	KLHL9_HUMAN	kelch-like family member 9	180	BACK.				cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex|midbody				endometrium(9)|large_intestine(7)|lung(10)|ovary(4)|skin(2)	32				Lung(24;8.52e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.118)		AAGCAGGAAAGTTCTTCAGGA	0.378													21	33					0	0	1	0	0	A	21334319	G	A	21334319	2	1	81	1	0	0	0	0	0	0	0	1	8439	1020	36	2		2	KLHL9	9	21334319	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	487	21334319	119879112	7145	10761											
IFNA8	3445	broad.mit.edu	37	9	21409185	21409185	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:21409185A>C	ENST00000380205.1	+	1	40	c.10A>C	c.(10-12)Act>Cct	p.T4P		NM_002170.3	NP_002161.2	P32881	IFNA8_HUMAN	interferon, alpha 8	4					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)	9				Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.0174)		AATGGCCTTGACTTTTTATTT	0.498													5	64					0	0	1	0	0	C	21409185	A	C	21409185	3	2	81	1	0	0	0	0	1	0	0	0	7587	275	10	5	12	5	IFNA8	9	21409185	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	74866	21409185	119804246	7146	10762											
CDKN2A	1029	broad.mit.edu	37	9	21971038	21971038	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:21971038C>T	ENST00000304494.5	-	2	590	c.320G>A	c.(319-321)cGc>cAc	p.R107H	CDKN2A_ENST00000497750.1_Missense_Mutation_p.R56H|CDKN2A_ENST00000479692.2_Missense_Mutation_p.R56H|CDKN2A_ENST00000361570.3_Silent_p.A162A|CDKN2A_ENST00000530628.2_Silent_p.A121A|CDKN2A_ENST00000579755.1_Silent_p.A121A|CDKN2A_ENST00000498628.2_Missense_Mutation_p.R56H|CDKN2A_ENST00000498124.1_Missense_Mutation_p.R107H|CDKN2A_ENST00000446177.1_Missense_Mutation_p.R107H|CDKN2A_ENST00000494262.1_Missense_Mutation_p.R56H|CDKN2A_ENST00000578845.2_Missense_Mutation_p.R56H|CDKN2A_ENST00000579122.1_Missense_Mutation_p.R107H|RP11-145E5.5_ENST00000404796.2_Intron	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	107			R -> C (in CMM2).|R -> H.		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(44)|p.H83fs*2(2)|p.D105fs*8(1)|p.0(1)|p.A68fs*3(1)|p.R107fs*33(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CCAGGCATCGCGCACGTCCAG	0.746		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			6	10					0	0	1	0	0	T	21971038	C	T	21971038	3	4	81	1	0	0	0	0	1	0	0	0	3183	768	27	1	158	1	CDKN2A	9	21971038	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	561853	21971038	119242393	7147	10763											
CDKN2B	1030	broad.mit.edu	37	9	22006082	22006082	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:22006082G>A	ENST00000276925.6	-	2	730	c.321C>T	c.(319-321)gaC>gaT	p.D107D	CDKN2B-AS1_ENST00000584816.1_RNA|CDKN2B-AS1_ENST00000584351.1_RNA|CDKN2B-AS1_ENST00000584637.1_RNA|CDKN2B-AS1_ENST00000580576.1_RNA|CDKN2B-AS1_ENST00000455933.2_RNA|CDKN2B-AS1_ENST00000583719.1_RNA|CDKN2B-AS1_ENST00000582072.1_RNA|CDKN2B-AS1_ENST00000577551.1_RNA|CDKN2B-AS1_ENST00000468603.2_RNA|CDKN2B-AS1_ENST00000580467.1_RNA|CDKN2B-AS1_ENST00000581051.1_RNA|CDKN2B_ENST00000380142.4_3'UTR|CDKN2B-AS1_ENST00000428597.1_RNA|CDKN2B-AS1_ENST00000585267.1_RNA|CDKN2B-AS1_ENST00000582301.1_RNA|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2B-AS1_ENST00000584020.1_RNA	NM_004936.3|NM_078487.2	NP_004927.2|NP_511042.1	P42772	CDN2B_HUMAN	cyclin-dependent kinase inhibitor 2B (p15, inhibits CDK4)	107					cell cycle arrest|cellular response to nutrient|G1 phase of mitotic cell cycle|G2/M transition of mitotic cell cycle|megakaryocyte differentiation|mitotic cell cycle G1/S transition checkpoint|negative regulation of epithelial cell proliferation|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of cyclin-dependent protein kinase activity	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|protein kinase binding	p.0(1)|p.0?(1)		lung(2)	2		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;1.31e-280)|Lung NSC(2;2.28e-131)|all_lung(2;2.11e-123)|Glioma(2;5.66e-57)|all_neural(2;3.05e-50)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;8.01e-33)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00369)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;3.29e-71)|Epithelial(2;9.08e-60)|LUSC - Lung squamous cell carcinoma(2;5.8e-46)|LUAD - Lung adenocarcinoma(2;1.43e-25)|BRCA - Breast invasive adenocarcinoma(2;5.37e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;6.92e-07)|KIRC - Kidney renal clear cell carcinoma(2;8.63e-07)|OV - Ovarian serous cystadenocarcinoma(39;0.014)|COAD - Colon adenocarcinoma(8;0.143)		CATCGCGCACGTCCAGCCGCG	0.731													11	9					0	0	1	0	0	A	22006082	G	A	22006082	2	1	81	1	0	0	0	0	0	0	0	1	3186	1136	40	1		1	CDKN2B	9	22006082	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	35044	22006082	119207349	7148	10764											
PLAA	9373	broad.mit.edu	37	9	26919311	26919311	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:26919311T>C	ENST00000397292.3	-	9	1831	c.1414A>G	c.(1414-1416)Aca>Gca	p.T472A	PLAA_ENST00000520884.1_Missense_Mutation_p.T472A|PLAA_ENST00000520641.1_5'UTR	NM_001031689.2	NP_001026859.1	Q9Y263	PLAP_HUMAN	phospholipase A2-activating protein	472					phospholipid metabolic process|signal transduction		phospholipase A2 activator activity			breast(1)|endometrium(7)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)	17		all_neural(3;3.53e-10)|Glioma(3;2.71e-09)		Lung(218;1.32e-05)|LUSC - Lung squamous cell carcinoma(38;0.00011)		AACTTACCTGTAAATGGATCT	0.303													25	36					0	0	1	0	0	C	26919311	T	C	26919311	3	2	81	1	0	0	0	0	1	0	0	0	12059	1638	57	3	997	3	PLAA	9	26919311	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	4913229	26919311	114294120	7149	10765											
IFT74	80173	broad.mit.edu	37	9	26984505	26984505	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:26984505C>T	ENST00000443698.1	+	6	584	c.413C>T	c.(412-414)aCt>aTt	p.T138I	IFT74_ENST00000433700.1_Missense_Mutation_p.T138I|IFT74_ENST00000380062.5_Missense_Mutation_p.T138I|IFT74_ENST00000429045.2_Missense_Mutation_p.T138I	NM_001099222.1	NP_001092692.1	Q96LB3	IFT74_HUMAN	intraflagellar transport 74 homolog (Chlamydomonas)	138						cytoplasmic membrane-bounded vesicle|intraflagellar transport particle B|microtubule-based flagellum				endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	6		all_neural(11;2.36e-10)		Lung(218;1.4e-05)|LUSC - Lung squamous cell carcinoma(38;0.000114)		AGGGCTGAGACTTTAGCTGTT	0.274													9	104					0	0	1	0	0	T	26984505	C	T	26984505	3	4	81	1	0	0	0	0	1	0	0	0	7607	565	20	2	431	2	IFT74	9	26984505	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	65194	26984505	114228926	7150	10766											
LRRC19	64922	broad.mit.edu	37	9	26995813	26995813	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:26995813A>G	ENST00000380055.5	-	5	929	c.819T>C	c.(817-819)ctT>ctC	p.L273L	IFT74_ENST00000433700.1_Intron|IFT74_ENST00000380062.5_Intron|LRRC19_ENST00000482770.1_5'UTR|IFT74_ENST00000443698.1_Intron|IFT74_ENST00000429045.2_Intron	NM_022901.2	NP_075052.1	Q9H756	LRC19_HUMAN	leucine rich repeat containing 19	273						integral to membrane				breast(1)|endometrium(2)|kidney(1)|lung(2)	6		all_neural(11;1.81e-09)		Lung(218;1.06e-05)|LUSC - Lung squamous cell carcinoma(38;0.0001)		CAACACCAACAAGAAAAGCCC	0.333													3	47					0	0	1	0	0	G	26995813	A	G	26995813	2	3	81	1	0	0	0	0	0	0	0	1	9020	117	5	3		3	LRRC19	9	26995813	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	11308	26995813	114217618	7151	10767											
TEK	7010	broad.mit.edu	37	9	27157963	27157963	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:27157963G>A	ENST00000380036.4	+	2	629	c.187G>A	c.(187-189)Gcc>Acc	p.A63T	TEK_ENST00000519097.1_Intron|TEK_ENST00000406359.4_Missense_Mutation_p.A63T	NM_000459.3	NP_000450	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial	63	Ig-like C2-type 1.				angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)		GGACTTTGAAGCCTTAATGAA	0.478													26	36					0	0	1	0	0	A	27157963	G	A	27157963	3	1	81	1	0	0	0	0	1	0	0	0	15810	971	34	2	193	2	TEK	9	27157963	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	162150	27157963	114055468	7152	10768											
TEK	7010	broad.mit.edu	37	9	27168541	27168541	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:27168541A>G	ENST00000380036.4	+	3	855	c.413A>G	c.(412-414)aAc>aGc	p.N138S	TEK_ENST00000519097.1_Missense_Mutation_p.N34S|TEK_ENST00000406359.4_Missense_Mutation_p.N138S	NM_000459.3	NP_000450	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial	138					angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)		AAGGGAGATAACGTGAACATA	0.353													3	42					0	0	1	0	0	G	27168541	A	G	27168541	3	3	81	1	0	0	0	0	1	0	0	0	15810	43	2	3	423	3	TEK	9	27168541	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	10578	27168541	114044890	7153	10769											
TEK	7010	broad.mit.edu	37	9	27192502	27192502	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:27192502T>C	ENST00000380036.4	+	11	1947	c.1505T>C	c.(1504-1506)gTt>gCt	p.V502A	TEK_ENST00000519097.1_Missense_Mutation_p.V355A|TEK_ENST00000406359.4_Missense_Mutation_p.V459A	NM_000459.3	NP_000450	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial	502	Fibronectin type-III 1.				angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)		AATGAGATTGTTACACTCAAC	0.473													46	56					0	0	1	0	0	C	27192502	T	C	27192502	3	2	81	1	0	0	0	0	1	0	0	0	15810	1725	60	3	1547	3	TEK	9	27192502	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	23961	27192502	114020929	7154	10770											
IFNK	56832	broad.mit.edu	37	9	27524785	27524785	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:27524785G>T	ENST00000276943.2	+	1	474	c.451G>T	c.(451-453)Gaa>Taa	p.E151*	MOB3B_ENST00000262244.5_Intron	NM_020124.2	NP_064509.2	Q9P0W0	IFNK_HUMAN	interferon, kappa	151					cytokine-mediated signaling pathway|defense response|natural killer cell activation|negative regulation of cell proliferation|positive regulation of innate immune response|regulation of transcription, DNA-dependent|response to virus	extracellular space	cytokine activity|interferon-alpha/beta receptor binding			large_intestine(1)	1		all_neural(11;7.9e-11)		LUSC - Lung squamous cell carcinoma(38;0.0001)|Lung(218;0.000158)		GAAACCCTCAGAAGCCAGGGT	0.443													25	36					1.85244e-09	2.23954e-09	1	1	0	T	27524785	G	T	27524785	4	4	81	1	0	0	0	0	0	1	0	0	7595	943	33	4	453	4	IFNK	9	27524785	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	332283	27524785	113688646	7155	10771											
C9orf72	203228	broad.mit.edu	37	9	27548406	27548406	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:27548406delT	ENST00000380003.3	-	11	1337	c.1274delA	c.(1273-1275)aagfs	p.K425fs	C9orf72_ENST00000488117.1_5'UTR	NM_001256054.1|NM_018325.3	NP_001242983.1|NP_060795.1	Q96LT7	CI072_HUMAN	chromosome 9 open reading frame 72	425										breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|ovary(4)|pancreas(1)	23		all_neural(11;7.57e-10)		LUSC - Lung squamous cell carcinoma(38;0.0001)|Lung(218;0.00016)		TTTAAAGGGCTTTTTTCCCTT	0.318													26	39	---	---	---	---						-	27548406	T	-	27548406	7	5	81	1	0	1	0	1	0	0	0	0	2513	1609	56	0	175	0	C9orf72	9	27548406	Frame_Shift_Del	DEL	T	TCGA-DU-6392-01A-11D-1705-08	23621	27548406	113665025	7156	10772											
LINGO2	158038	broad.mit.edu	37	9	27949356	27949356	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:27949356C>T	ENST00000379992.2	-	6	1763	c.1314G>A	c.(1312-1314)ccG>ccA	p.P438P	LINGO2_ENST00000308675.3_Silent_p.P438P	NM_152570.2	NP_689783.1	Q7L985	LIGO2_HUMAN	leucine rich repeat and Ig domain containing 2	438	Ig-like C2-type.					integral to membrane				autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		TCACAGGCTGCGGGTCTCCAT	0.517													4	47					0	0	1	0	0	T	27949356	C	T	27949356	2	4	81	1	0	0	0	0	0	0	0	1	8856	755	27	1		1	LINGO2	9	27949356	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	400950	27949356	113264075	7157	10773											
LINGO2	158038	broad.mit.edu	37	9	27949585	27949585	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:27949585C>T	ENST00000379992.2	-	6	1534	c.1085G>A	c.(1084-1086)cGc>cAc	p.R362H	LINGO2_ENST00000308675.3_Missense_Mutation_p.R362H	NM_152570.2	NP_689783.1	Q7L985	LIGO2_HUMAN	leucine rich repeat and Ig domain containing 2	362	LRRCT.					integral to membrane				autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		CCAGAGAAGGCGGCAGTCACA	0.547													8	24					0	0	1	0	0	T	27949585	C	T	27949585	3	4	81	1	0	0	0	0	1	0	0	0	8856	768	27	1	739	1	LINGO2	9	27949585	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	229	27949585	113263846	7158	10774											
ACO1	48	broad.mit.edu	37	9	32408516	32408516	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:32408516G>A	ENST00000309951.6	+	4	409	c.271G>A	c.(271-273)Gtg>Atg	p.V91M	ACO1_ENST00000379923.1_Missense_Mutation_p.V91M|ACO1_ENST00000541043.1_5'UTR	NM_002197.2	NP_002188.1	P21399	ACOC_HUMAN	aconitase 1, soluble						citrate metabolic process|response to iron(II) ion|tricarboxylic acid cycle	cytosol|endoplasmic reticulum|Golgi apparatus	4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron-responsive element binding|isocitrate hydro-lyase (cis-aconitate-forming) activity|metal ion binding|protein binding			breast(1)|endometrium(7)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	30			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;3.94e-06)		TCTTAGGGGTGTGCCCGCTGT	0.423													5	70					0	0	1	0	0	A	32408516	G	A	32408516	3	1	81	1	0	0	0	0	1	0	0	0	146	1377	48	2	281	2	ACO1	9	32408516	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	4458931	32408516	108804915	7159	10775											
ACO1	48	broad.mit.edu	37	9	32425917	32425917	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:32425917C>A	ENST00000309951.6	+	11	1408	c.1270C>A	c.(1270-1272)Ctt>Att	p.L424I	ACO1_ENST00000379923.1_Missense_Mutation_p.L424I|ACO1_ENST00000541043.1_Missense_Mutation_p.L325I	NM_002197.2	NP_002188.1	P21399	ACOC_HUMAN	aconitase 1, soluble						citrate metabolic process|response to iron(II) ion|tricarboxylic acid cycle	cytosol|endoplasmic reticulum|Golgi apparatus	4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron-responsive element binding|isocitrate hydro-lyase (cis-aconitate-forming) activity|metal ion binding|protein binding			breast(1)|endometrium(7)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	30			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;3.94e-06)		TGAATTCACCCTTGCTCATGG	0.413													4	56					0.00909568	0.00944708	1	1	0	A	32425917	C	A	32425917	3	1	81	1	0	0	0	0	1	0	0	0	146	681	24	4	1308	4	ACO1	9	32425917	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	17401	32425917	108787514	7160	10776											
TOPORS	10210	broad.mit.edu	37	9	32541485	32541485	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:32541485C>A	ENST00000360538.2	-	3	3154	c.3038G>T	c.(3037-3039)aGt>aTt	p.S1013I	TOPORS_ENST00000379858.1_Missense_Mutation_p.S948I	NM_005802.4	NP_005793.2	Q9NS56	TOPRS_HUMAN	topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase	1013					DNA damage response, signal transduction resulting in induction of apoptosis|maintenance of protein location in nucleus|proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation|transcription, DNA-dependent	nuclear speck|PML body	antigen binding|DNA binding|DNA topoisomerase I binding|SUMO ligase activity|ubiquitin-protein ligase activity|zinc ion binding			large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)		CACAATGTTACTGGGCTGGTT	0.418													9	115					0.00448238	0.00470627	1	1	0	A	32541485	C	A	32541485	3	1	81	1	0	0	0	0	1	0	0	0	16431	565	20	4	103	4	TOPORS	9	32541485	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	115568	32541485	108671946	7161	10777											
TOPORS	10210	broad.mit.edu	37	9	32542146	32542146	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:32542146C>T	ENST00000360538.2	-	3	2493	c.2377G>A	c.(2377-2379)Gga>Aga	p.G793R	TOPORS_ENST00000379858.1_Missense_Mutation_p.G728R	NM_005802.4	NP_005793.2	Q9NS56	TOPRS_HUMAN	topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase	793	Interaction with TOP1.				DNA damage response, signal transduction resulting in induction of apoptosis|maintenance of protein location in nucleus|proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation|transcription, DNA-dependent	nuclear speck|PML body	antigen binding|DNA binding|DNA topoisomerase I binding|SUMO ligase activity|ubiquitin-protein ligase activity|zinc ion binding			large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)		CGTTTCCCTCCAGGCTTTTCA	0.453													33	64					0	0	1	0	0	T	32542146	C	T	32542146	3	4	81	1	0	0	0	0	1	0	0	0	16431	603	21	2	764	2	TOPORS	9	32542146	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	661	32542146	108671285	7162	10778											
TAF1L	138474	broad.mit.edu	37	9	32630510	32630510	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:32630510A>G	ENST00000242310.4	-	1	5157	c.5068T>C	c.(5068-5070)Ttg>Ctg	p.L1690L		NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	1690					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		AAGACAGACAAATTGCTCTCA	0.493													6	150					0	0	1	0	0	G	32630510	A	G	32630510	2	3	81	1	0	0	0	0	0	0	0	1	15580	11	1	3		3	TAF1L	9	32630510	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	88364	32630510	108582921	7163	10779											
APTX	54840	broad.mit.edu	37	9	32973503	32973503	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:32973503G>A	ENST00000379817.2	-	7	1218	c.1022C>T	c.(1021-1023)aCa>aTa	p.T341I	APTX_ENST00000379819.1_Missense_Mutation_p.T355I|APTX_ENST00000379825.2_3'UTR|APTX_ENST00000397172.3_Missense_Mutation_p.T283I|APTX_ENST00000468275.1_Missense_Mutation_p.T341I|APTX_ENST00000476858.1_Missense_Mutation_p.T301I|APTX_ENST00000463596.1_Missense_Mutation_p.T341I|APTX_ENST00000436040.2_3'UTR|APTX_ENST00000309615.3_3'UTR|APTX_ENST00000379813.3_Missense_Mutation_p.T341I			Q7Z2E3	APTX_HUMAN	aprataxin	355					cell death|double-strand break repair|regulation of protein stability|response to hydrogen peroxide|single strand break repair	chromatin|nucleolus|nucleoplasm	chromatin binding|damaged DNA binding|DNA 5'-adenosine monophosphate hydrolase activity|double-stranded DNA binding|double-stranded RNA binding|phosphoglycolate phosphatase activity|phosphoprotein binding|polynucleotide 3'-phosphatase activity|protein N-terminus binding|zinc ion binding			endometrium(1)|lung(1)|ovary(2)|prostate(2)	6			LUSC - Lung squamous cell carcinoma(29;0.0302)	GBM - Glioblastoma multiforme(74;0.105)		GAATCACTGTGTCCAGTGCTT	0.542								Editing and processing nucleases					7	35					0	0	1	0	0	A	32973503	G	A	32973503	3	1	81	1	0	0	0	0	1	0	0	0	817	1377	48	2	10	2	APTX	9	32973503	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	342993	32973503	108239928	7164	10780											
DNAJA1	3301	broad.mit.edu	37	9	33029970	33029970	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:33029970T>G	ENST00000330899.4	+	4	581	c.398T>G	c.(397-399)aTt>aGt	p.I133S	DNAJA1_ENST00000544625.1_De_novo_Start_InFrame|DNAJA1_ENST00000495015.1_Intron	NM_001539.2	NP_001530.1	P31689	DNJA1_HUMAN	DnaJ (Hsp40) homolog, subfamily A, member 1	133					protein folding|response to heat|response to unfolded protein	membrane	ATP binding|heat shock protein binding|low-density lipoprotein particle receptor binding|metal ion binding|unfolded protein binding			large_intestine(2)|ovary(1)|skin(3)	6			LUSC - Lung squamous cell carcinoma(29;0.0227)	GBM - Glioblastoma multiforme(74;0.102)		AAGAATGTGATTTGTGACAAA	0.328													4	71					0	0	1	0	0	G	33029970	T	G	33029970	3	3	81	1	0	0	0	0	1	0	0	0	4638	1493	52	4	408	4	DNAJA1	9	33029970	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	56467	33029970	108183461	7165	10781											
SMU1	55234	broad.mit.edu	37	9	33073796	33073796	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:33073796C>T	ENST00000397149.3	-	2	85	c.35G>A	c.(34-36)cGc>cAc	p.R12H	SMU1_ENST00000536631.1_Intron	NM_018225.2	NP_060695.2	Q2TAY7	SMU1_HUMAN	smu-1 suppressor of mec-8 and unc-52 homolog (C. elegans)	12	LisH.					cytoplasm|nucleus				endometrium(2)|lung(4)|ovary(2)|prostate(1)	9			LUSC - Lung squamous cell carcinoma(29;0.0227)	GBM - Glioblastoma multiforme(74;0.11)		CATAATAAGGCGGATCACACT	0.443													27	26					0	0	1	0	0	T	33073796	C	T	33073796	3	4	81	1	0	0	0	0	1	0	0	0	14871	768	27	1	1550	1	SMU1	9	33073796	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	43826	33073796	108139635	7166	10782											
BAG1	573	broad.mit.edu	37	9	33256830	33256830	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:33256830A>C	ENST00000472232.3	-	5	940	c.854T>G	c.(853-855)tTt>tGt	p.F285C	BAG1_ENST00000379704.2_Missense_Mutation_p.F170C|BAG1_ENST00000467389.2_5'UTR	NM_001172415.1|NM_004323.5	NP_001165886.1|NP_004314	Q99933	BAG1_HUMAN	BCL2-associated athanogene	285	BAG.|Interaction with PPP1R15A.				anti-apoptosis|apoptosis|cell surface receptor linked signaling pathway|chaperone cofactor-dependent protein refolding	cytoplasm|intermediate filament cytoskeleton|nucleus	protein binding|receptor signaling protein activity			endometrium(1)|large_intestine(3)|lung(3)|ovary(1)	8			LUSC - Lung squamous cell carcinoma(29;0.00506)			GATCTTCATAAACTGCTCTAT	0.393													28	38					0	0	1	0	0	C	33256830	A	C	33256830	3	2	81	1	0	0	0	0	1	0	0	0	1284	14	1	5	195	5	BAG1	9	33256830	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	183034	33256830	107956601	7167	10783											
NFX1	4799	broad.mit.edu	37	9	33295380	33295380	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:33295380C>T	ENST00000379540.3	+	2	1050	c.988C>T	c.(988-990)Cga>Tga	p.R330*	NFX1_ENST00000379521.4_Nonsense_Mutation_p.R330*|NFX1_ENST00000318524.6_Nonsense_Mutation_p.R330*	NM_002504.4	NP_002495.2	Q12986	NFX1_HUMAN	nuclear transcription factor, X-box binding 1	330					inflammatory response|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|ligase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25			LUSC - Lung squamous cell carcinoma(29;0.00506)	GBM - Glioblastoma multiforme(74;0.224)		TCCTTTCTCCCGAGGCAAACA	0.408													13	33					0	0	1	0	0	T	33295380	C	T	33295380	4	4	81	1	0	0	0	0	0	1	0	0	10434	644	23	1	994	1	NFX1	9	33295380	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	38550	33295380	107918051	7168	10784											
AQP3	360	broad.mit.edu	37	9	33442479	33442479	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:33442479G>T	ENST00000297991.4	-	5	610	c.530C>A	c.(529-531)gCc>gAc	p.A177D	AQP3_ENST00000493581.1_5'UTR	NM_004925.4	NP_004916.1	Q92482	AQP3_HUMAN	aquaporin 3 (Gill blood group)	177					excretion|odontogenesis|positive regulation of immune system process|regulation of keratinocyte differentiation|response to calcium ion|response to retinoic acid|response to vitamin D	basolateral plasma membrane|cell-cell junction|cytoplasm	glycerol channel activity|water channel activity			endometrium(2)|large_intestine(3)|lung(2)|ovary(1)	8			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.0899)		GTCAACAATGGCCAGCACACA	0.612													5	11					2.0095e-06	2.30238e-06	1	1	0	T	33442479	G	T	33442479	3	4	81	1	0	0	0	0	1	0	0	0	824	1203	42	5	356	5	AQP3	9	33442479	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	147099	33442479	107770952	7169	10785											
AQP3	360	broad.mit.edu	37	9	33442895	33442895	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:33442895G>T	ENST00000297991.4	-	4	527	c.447C>A	c.(445-447)acC>acA	p.T149T	AQP3_ENST00000493581.1_5'UTR	NM_004925.4	NP_004916.1	Q92482	AQP3_HUMAN	aquaporin 3 (Gill blood group)	149					excretion|odontogenesis|positive regulation of immune system process|regulation of keratinocyte differentiation|response to calcium ion|response to retinoic acid|response to vitamin D	basolateral plasma membrane|cell-cell junction|cytoplasm	glycerol channel activity|water channel activity			endometrium(2)|large_intestine(3)|lung(2)|ovary(1)	8			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.0899)		CAGAGGGGTAGGTAGCAAAGA	0.552													38	84					2.09667e-21	2.74506e-21	1	1	0	T	33442895	G	T	33442895	2	4	81	1	0	0	0	0	0	0	0	1	824	987	35	4		4	AQP3	9	33442895	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	416	33442895	107770536	7170	10786											
NOL6	65083	broad.mit.edu	37	9	33466321	33466321	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:33466321C>T	ENST00000379471.2	-	17	2281	c.2194G>A	c.(2194-2196)Gtg>Atg	p.V732M	NOL6_ENST00000455041.2_Missense_Mutation_p.V680M|NOL6_ENST00000464829.1_Intron			Q9H6R4	NOL6_HUMAN	nucleolar protein 6 (RNA-associated)	732					rRNA processing	condensed nuclear chromosome|nucleolus	RNA binding			endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2)	27			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)		ATGGGCTCCACGTAGGCCGGA	0.612											OREG0019137	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	76					0	0	1	0	0	T	33466321	C	T	33466321	3	4	81	1	0	0	0	0	1	0	0	0	10572	536	19	1	1286	1	NOL6	9	33466321	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	23426	33466321	107747110	7171	10787											
NOL6	65083	broad.mit.edu	37	9	33467152	33467152	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:33467152G>A	ENST00000379471.2	-	14	1921	c.1834C>T	c.(1834-1836)Cgc>Tgc	p.R612C	NOL6_ENST00000455041.2_Missense_Mutation_p.R560C|NOL6_ENST00000464829.1_Intron			Q9H6R4	NOL6_HUMAN	nucleolar protein 6 (RNA-associated)	612					rRNA processing	condensed nuclear chromosome|nucleolus	RNA binding			endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2)	27			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)		GGAATAAGGCGCTTCTGGGAC	0.607											OREG0019137	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	16	24					0	0	1	0	0	A	33467152	G	A	33467152	3	1	81	1	0	0	0	0	1	0	0	0	10572	1087	38	1	1658	1	NOL6	9	33467152	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	831	33467152	107746279	7172	10788											
NOL6	65083	broad.mit.edu	37	9	33468871	33468871	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:33468871C>A	ENST00000379471.2	-	8	1114		c.e8-1		NOL6_ENST00000455041.2_Splice_Site|NOL6_ENST00000464829.1_Splice_Site			Q9H6R4	NOL6_HUMAN	nucleolar protein 6 (RNA-associated)						rRNA processing	condensed nuclear chromosome|nucleolus	RNA binding			endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2)	27			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)		CACCCTGGCCCTGAAAGAGAC	0.592													48	102					2.27781e-18	2.95383e-18	1	1	0	A	33468871	C	A	33468871	5	1	81	1	0	0	0	0	0	0	1	0	10572	695	24	4	2490	4	NOL6	9	33468871	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1719	33468871	107744560	7173	10789											
PRSS3	5646	broad.mit.edu	37	9	33797979	33797979	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:33797979T>C	ENST00000361005.5	+	3	524	c.524T>C	c.(523-525)gTc>gCc	p.V175A	RP11-133O22.6_ENST00000454429.2_RNA|PRSS3_ENST00000429677.3_Missense_Mutation_p.V111A|PRSS3_ENST00000379405.3_Missense_Mutation_p.V118A|PRSS3_ENST00000342836.4_Missense_Mutation_p.V132A	NM_007343.3	NP_031369	P35030	TRY3_HUMAN	protease, serine, 3	175	Peptidase S1.				digestion|endothelial cell migration|zymogen activation	extracellular space	calcium ion binding|protein binding|serine-type endopeptidase activity|serine-type peptidase activity			large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	13			LUSC - Lung squamous cell carcinoma(29;0.0176)			TCACCTGCCGTCATCAATGCC	0.562													21	33					0	0	1	0	0	C	33797979	T	C	33797979	3	2	81	1	0	0	0	0	1	0	0	0	12671	1667	58	3	578	3	PRSS3	9	33797979	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	329108	33797979	107415452	7174	10790											
UBAP2	55833	broad.mit.edu	37	9	33926987	33926987	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:33926987C>T	ENST00000379238.1	-	21	2580	c.2463G>A	c.(2461-2463)ccG>ccA	p.P821P	UBAP2_ENST00000449054.1_Splice_Site_p.P821P|UBAP2_ENST00000360802.1_Splice_Site_p.P821P|UBAP2_ENST00000379239.4_Splice_Site_p.P554P|UBAP2_ENST00000379235.1_Splice_Site_p.P60P|UBAP2_ENST00000539807.1_Splice_Site_p.P576P			Q5T6F2	UBAP2_HUMAN	ubiquitin associated protein 2	821										endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(13)|ovary(3)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)		ATACACTCACCGGGTAGGCAG	0.647													5	28					0	0	1	0	0	T	33926987	C	T	33926987	5	4	81	1	0	0	0	0	0	0	1	0	16898	666	23	1	932	1	UBAP2	9	33926987	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	129008	33926987	107286444	7175	10791											
UBAP1	51271	broad.mit.edu	37	9	34241252	34241252	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:34241252C>T	ENST00000536252.1	+	5	627	c.229C>T	c.(229-231)Cgg>Tgg	p.R77W	UBAP1_ENST00000543944.1_Missense_Mutation_p.R113W|UBAP1_ENST00000359544.2_Missense_Mutation_p.R77W|UBAP1_ENST00000297661.4_Missense_Mutation_p.R77W|UBAP1_ENST00000540348.1_Missense_Mutation_p.R77W|UBAP1_ENST00000545103.1_Missense_Mutation_p.R141W|UBAP1_ENST00000379186.4_Missense_Mutation_p.R77W	NM_001171203.2	NP_001164674.1	Q9NZ09	UBAP1_HUMAN	ubiquitin associated protein 1	77						cytoplasm				endometrium(4)|kidney(2)|lung(6)|upper_aerodigestive_tract(1)	13			LUSC - Lung squamous cell carcinoma(29;0.00272)			AGAAGCCGAGCGGGAAGCAGA	0.458													52	62					0	0	1	0	0	T	34241252	C	T	34241252	3	4	81	1	0	0	0	0	1	0	0	0	16897	759	27	1	476	1	UBAP1	9	34241252	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	314265	34241252	106972179	7176	10792											
KIF24	347240	broad.mit.edu	37	9	34256112	34256112	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:34256112C>T	ENST00000379166.2	-	11	3612	c.3493G>A	c.(3493-3495)Gaa>Aaa	p.E1165K	KIF24_ENST00000379174.3_Missense_Mutation_p.E1031K|KIF24_ENST00000345050.2_Missense_Mutation_p.E1031K|KIF24_ENST00000402558.2_Missense_Mutation_p.E1165K	NM_194313.2	NP_919289.2	Q5T7B8	KIF24_HUMAN	kinesin family member 24	1165					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(13)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	32			LUSC - Lung squamous cell carcinoma(29;0.0107)			CCCATGTGTTCGTGGGAGAAA	0.582													4	49					0	0	1	0	0	T	34256112	C	T	34256112	3	4	81	1	0	0	0	0	1	0	0	0	8334	893	31	1	625	1	KIF24	9	34256112	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	14860	34256112	106957319	7177	10793											
KIF24	347240	broad.mit.edu	37	9	34256522	34256522	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:34256522G>C	ENST00000379166.2	-	11	3202	c.3083C>G	c.(3082-3084)gCt>gGt	p.A1028G	KIF24_ENST00000379174.3_Missense_Mutation_p.A894G|KIF24_ENST00000345050.2_Missense_Mutation_p.A894G|KIF24_ENST00000402558.2_Missense_Mutation_p.A1028G	NM_194313.2	NP_919289.2	Q5T7B8	KIF24_HUMAN	kinesin family member 24	1028					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(13)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	32			LUSC - Lung squamous cell carcinoma(29;0.0107)			TCCTGGGACAGCATGACCGTT	0.562													6	94					0	0	1	0	0	C	34256522	G	C	34256522	3	2	81	1	0	0	0	0	1	0	0	0	8334	971	34	4	1035	4	KIF24	9	34256522	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	410	34256522	106956909	7178	10794											
KIAA1161	57462	broad.mit.edu	37	9	34372131	34372131	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:34372131C>T	ENST00000297625.7	-	2	934	c.709G>A	c.(709-711)Gcc>Acc	p.A237T		NM_020702.3	NP_065753.2	Q6NSJ0	K1161_HUMAN	KIAA1161	271					carbohydrate metabolic process	integral to membrane	hydrolase activity, hydrolyzing O-glycosyl compounds			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.126)		GCGCGGCCGGCGGGTGGCTTG	0.642													3	17					0	0	1	0	0	T	34372131	C	T	34372131	3	4	81	1	0	0	0	0	1	0	0	0	8253	768	27	1	1337	1	KIAA1161	9	34372131	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	115609	34372131	106841300	7179	10795											
KIAA1161	57462	broad.mit.edu	37	9	34372162	34372162	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:34372162C>T	ENST00000297625.7	-	2	903	c.678G>A	c.(676-678)gcG>gcA	p.A226A		NM_020702.3	NP_065753.2	Q6NSJ0	K1161_HUMAN	KIAA1161	260					carbohydrate metabolic process	integral to membrane	hydrolase activity, hydrolyzing O-glycosyl compounds			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.126)		CGTGGTAGCGCGCCTGAAGCC	0.667													6	10					0	0	1	0	0	T	34372162	C	T	34372162	2	4	81	1	0	0	0	0	0	0	0	1	8253	755	27	1		1	KIAA1161	9	34372162	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	31	34372162	106841269	7180	10796											
DNAI1	27019	broad.mit.edu	37	9	34514424	34514424	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:34514424C>T	ENST00000242317.4	+	17	1773	c.1602C>T	c.(1600-1602)gaC>gaT	p.D534D		NM_001281428.1|NM_012144.2	NP_001268357.1|NP_036276.1	Q9UI46	DNAI1_HUMAN	dynein, axonemal, intermediate chain 1	534					cell projection organization	cilium axoneme|cytoplasm|dynein complex|microtubule	motor activity			autonomic_ganglia(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|prostate(1)|skin(2)|urinary_tract(1)	34	all_epithelial(49;0.244)		LUSC - Lung squamous cell carcinoma(29;0.0107)|STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.0222)		AATTCCTCGACACCTATGACG	0.557									Kartagener syndrome				8	111					0	0	1	0	0	T	34514424	C	T	34514424	2	4	81	1	0	0	0	0	0	0	0	1	4636	477	17	2		2	DNAI1	9	34514424	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	142262	34514424	106699007	7181	10797											
DNAI1	27019	broad.mit.edu	37	9	34514513	34514513	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:34514513C>T	ENST00000242317.4	+	17	1862	c.1691C>T	c.(1690-1692)aCa>aTa	p.T564I		NM_001281428.1|NM_012144.2	NP_001268357.1|NP_036276.1	Q9UI46	DNAI1_HUMAN	dynein, axonemal, intermediate chain 1	564					cell projection organization	cilium axoneme|cytoplasm|dynein complex|microtubule	motor activity			autonomic_ganglia(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|prostate(1)|skin(2)|urinary_tract(1)	34	all_epithelial(49;0.244)		LUSC - Lung squamous cell carcinoma(29;0.0107)|STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.0222)		TCCGACTGGACAGTGAAGATC	0.587									Kartagener syndrome				6	97					0	0	1	0	0	T	34514513	C	T	34514513	3	4	81	1	0	0	0	0	1	0	0	0	4636	478	17	2	1757	2	DNAI1	9	34514513	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	89	34514513	106698918	7182	10798											
DNAI1	27019	broad.mit.edu	37	9	34514703	34514703	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:34514703C>A	ENST00000242317.4	+	18	1955	c.1784C>A	c.(1783-1785)tCt>tAt	p.S595Y		NM_001281428.1|NM_012144.2	NP_001268357.1|NP_036276.1	Q9UI46	DNAI1_HUMAN	dynein, axonemal, intermediate chain 1	595					cell projection organization	cilium axoneme|cytoplasm|dynein complex|microtubule	motor activity			autonomic_ganglia(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|prostate(1)|skin(2)|urinary_tract(1)	34	all_epithelial(49;0.244)		LUSC - Lung squamous cell carcinoma(29;0.0107)|STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.0222)		CCATACTCTTCTACTGTGTTC	0.567									Kartagener syndrome				8	81					0.00448238	0.00470627	1	1	0	A	34514703	C	A	34514703	3	1	81	1	0	0	0	0	1	0	0	0	4636	913	32	4	1854	4	DNAI1	9	34514703	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	190	34514703	106698728	7183	10799											
DNAI1	27019	broad.mit.edu	37	9	34517367	34517367	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:34517367G>A	ENST00000242317.4	+	19	2074	c.1903G>A	c.(1903-1905)Gtg>Atg	p.V635M		NM_001281428.1|NM_012144.2	NP_001268357.1|NP_036276.1	Q9UI46	DNAI1_HUMAN	dynein, axonemal, intermediate chain 1	635					cell projection organization	cilium axoneme|cytoplasm|dynein complex|microtubule	motor activity			autonomic_ganglia(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|prostate(1)|skin(2)|urinary_tract(1)	34	all_epithelial(49;0.244)		LUSC - Lung squamous cell carcinoma(29;0.0107)|STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.0222)		GCTCACCCACGTGCAGTTCAA	0.532									Kartagener syndrome				15	12					0	0	1	0	0	A	34517367	G	A	34517367	3	1	81	1	0	0	0	0	1	0	0	0	4636	1145	40	1	1977	1	DNAI1	9	34517367	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2664	34517367	106696064	7184	10800											
CNTFR	1271	broad.mit.edu	37	9	34564615	34564615	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:34564615C>T	ENST00000378980.3	-	4	594	c.301G>A	c.(301-303)Gtc>Atc	p.V101I	CNTFR_ENST00000351266.4_Missense_Mutation_p.V101I	NM_001207011.1|NM_147164.2	NP_001193940.1|NP_671693.1	P26992	CNTFR_HUMAN	ciliary neurotrophic factor receptor	101	Ig-like C2-type.				nervous system development	anchored to membrane|extrinsic to membrane|plasma membrane	ciliary neurotrophic factor receptor activity|receptor binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(4)|skin(1)	15	all_epithelial(49;0.0899)		STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.00494)		TGCAGCAGGACTTGGTGGCGC	0.627													7	6					0	0	1	0	0	T	34564615	C	T	34564615	3	4	81	1	0	0	0	0	1	0	0	0	3661	565	20	2	845	2	CNTFR	9	34564615	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	47248	34564615	106648816	7185	10801											
DCTN3	11258	broad.mit.edu	37	9	34617963	34617963	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:34617963C>A	ENST00000447983.2	-	3	240	c.187G>T	c.(187-189)Gat>Tat	p.D63Y	DCTN3_ENST00000341694.2_Missense_Mutation_p.D63Y|DCTN3_ENST00000477738.2_Missense_Mutation_p.D63Y|DCTN3_ENST00000378913.2_Missense_Mutation_p.D63Y|DCTN3_ENST00000378916.4_Missense_Mutation_p.D63Y|DCTN3_ENST00000259632.7_Missense_Mutation_p.D63Y			O75935	DCTN3_HUMAN	dynactin 3 (p22)	63					cytokinesis|G2/M transition of mitotic cell cycle|mitosis	centrosome|cleavage furrow|condensed chromosome kinetochore|cytosol|dynactin complex|midbody|perinuclear region of cytoplasm|spindle	protein binding|structural molecule activity			large_intestine(1)|skin(1)	2	all_epithelial(49;0.0863)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.0388)		TTGATCAGATCTTCAACTAGA	0.463													11	22					1.08611e-07	1.27405e-07	1	1	0	A	34617963	C	A	34617963	3	1	81	1	0	0	0	0	1	0	0	0	4331	913	32	4	490	4	DCTN3	9	34617963	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	53348	34617963	106595468	7186	10802											
ARID3C	138715	broad.mit.edu	37	9	34622473	34622473	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:34622473C>A	ENST00000378909.2	-	5	1011	c.919G>T	c.(919-921)Gga>Tga	p.G307*		NM_001017363.1	NP_001017363.1	A6NKF2	ARI3C_HUMAN	AT rich interactive domain 3C (BRIGHT-like)	307	Pro-rich.|REKLES.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)	14	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.175)		CGTGTAGGTCCCAGTGCCAGG	0.577													7	48					5.18039e-06	5.88187e-06	1	1	0	A	34622473	C	A	34622473	4	1	81	1	0	0	0	0	0	1	0	0	915	632	22	5	330	5	ARID3C	9	34622473	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	4510	34622473	106590958	7187	10803											
ARID3C	138715	broad.mit.edu	37	9	34623516	34623516	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:34623516C>T	ENST00000378909.2	-	4	863	c.771G>A	c.(769-771)ccG>ccA	p.P257P		NM_001017363.1	NP_001017363.1	A6NKF2	ARI3C_HUMAN	AT rich interactive domain 3C (BRIGHT-like)	257	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)	14	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.175)		ACTGGGTCGCCGGAGGGGCGG	0.706													4	39					0	0	1	0	0	T	34623516	C	T	34623516	2	4	81	1	0	0	0	0	0	0	0	1	915	639	23	1		1	ARID3C	9	34623516	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1043	34623516	106589915	7188	10804											
SIGMAR1	10280	broad.mit.edu	37	9	34636994	34636994	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:34636994C>A	ENST00000378892.1	-	2	605	c.178G>T	c.(178-180)Ggg>Tgg	p.G60W	SIGMAR1_ENST00000277010.4_Splice_Site_p.G149W|SIGMAR1_ENST00000477726.1_Intron|SIGMAR1_ENST00000461426.1_Intron			Q99720	SGMR1_HUMAN	sigma non-opioid intracellular receptor 1	149					ergosterol biosynthetic process|lipid transport	cell junction|endoplasmic reticulum membrane|growth cone|integral to plasma membrane|lipid particle|nuclear inner membrane|nuclear outer membrane	C-8 sterol isomerase activity|drug binding			large_intestine(1)|lung(1)	2					Dextromethorphan(DB00514)	TCTTACCCACCTGGGTAGAAG	0.592													4	24					0.00909568	0.00944708	1	1	0	A	34636994	C	A	34636994	5	1	81	1	0	0	0	0	0	0	1	0	14371	695	24	4	234	4	SIGMAR1	9	34636994	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	13478	34636994	106576437	7189	10805											
IL11RA	3590	broad.mit.edu	37	9	34658656	34658656	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:34658656G>A	ENST00000555003.1	+	8	2142	c.786G>A	c.(784-786)ccG>ccA	p.P262P	IL11RA_ENST00000318041.9_Silent_p.P262P|IL11RA_ENST00000441545.2_Silent_p.P262P|IL11RA_ENST00000378817.4_Silent_p.P262P|IL11RA_ENST00000602473.1_Silent_p.P262P			Q14626	I11RA_HUMAN	interleukin 11 receptor, alpha	262	Fibronectin type-III 2.					integral to plasma membrane	cytokine receptor activity			breast(1)|large_intestine(1)|ovary(1)|skin(1)	4	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.174)	Oprelvekin(DB00038)	AGTACCGTCCGGCGCAGCATC	0.627													17	39					0	0	1	0	0	A	34658656	G	A	34658656	2	1	81	1	0	0	0	0	0	0	0	1	7667	1103	39	1		1	IL11RA	9	34658656	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	21662	34658656	106554775	7190	10806											
CCL27	10850	broad.mit.edu	37	9	34662395	34662395	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:34662395C>A	ENST00000259631.4	-	2	147	c.89G>T	c.(88-90)aGc>aTc	p.S30I	RP11-195F19.30_ENST00000564224.1_RNA|CCL27_ENST00000557161.1_5'UTR	NM_006664.2	NP_006655.1	Q9Y4X3	CCL27_HUMAN	chemokine (C-C motif) ligand 27	30					cell-cell signaling|chemotaxis|immune response	extracellular space	chemokine activity			kidney(1)|large_intestine(3)|ovary(1)	5	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.173)		GCAGGCAGTGCTGGGTGGCAG	0.562													9	19					0.0692343	0.0705186	1	1	0	A	34662395	C	A	34662395	3	1	81	1	0	0	0	0	1	0	0	0	2919	797	28	4	257	4	CCL27	9	34662395	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3739	34662395	106551036	7191	10807											
KIAA1045	23349	broad.mit.edu	37	9	34977131	34977131	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:34977131G>A	ENST00000242315.3	+	6	983	c.901G>A	c.(901-903)Gcc>Acc	p.A301T	KIAA1045_ENST00000476115.2_3'UTR|KIAA1045_ENST00000544237.1_Missense_Mutation_p.A301T	NM_015297.1	NP_056112.1	Q9UPV7	K1045_HUMAN	KIAA1045	301							calcium ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			LUSC - Lung squamous cell carcinoma(32;0.00575)			AGCCCGAGCCGCCTTCCTGGC	0.582													22	38					0	0	1	0	0	A	34977131	G	A	34977131	3	1	81	1	0	0	0	0	1	0	0	0	8249	1087	38	1	919	1	KIAA1045	9	34977131	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	314736	34977131	106236300	7192	10808											
DNAJB5	25822	broad.mit.edu	37	9	34996467	34996467	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:34996467C>T	ENST00000541010.1	+	2	3429	c.417C>T	c.(415-417)ggC>ggT	p.G139G	DNAJB5_ENST00000312316.5_Silent_p.G139G|DNAJB5_ENST00000545841.1_Silent_p.G139G|DNAJB5_ENST00000453597.3_Silent_p.G253G|DNAJB5_ENST00000335998.3_Silent_p.G173G|DNAJB5_ENST00000454002.2_Silent_p.G211G			O75953	DNJB5_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 5	139					protein folding|response to unfolded protein		heat shock protein binding|unfolded protein binding			kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(32;0.00575)			ACCCATTTGGCGCTTTCGGCC	0.592													19	19					0	0	1	0	0	T	34996467	C	T	34996467	2	4	81	1	0	0	0	0	0	0	0	1	4650	755	27	1		1	DNAJB5	9	34996467	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	19336	34996467	106216964	7193	10809											
DNAJB5	25822	broad.mit.edu	37	9	34996478	34996478	+	Missense_Mutation	SNP	G	G	A	rs35837382		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:34996478G>A	ENST00000541010.1	+	2	3440	c.428G>A	c.(427-429)cGt>cAt	p.R143H	DNAJB5_ENST00000312316.5_Missense_Mutation_p.R143H|DNAJB5_ENST00000545841.1_Missense_Mutation_p.R143H|DNAJB5_ENST00000453597.3_Missense_Mutation_p.R257H|DNAJB5_ENST00000335998.3_Missense_Mutation_p.R177H|DNAJB5_ENST00000454002.2_Missense_Mutation_p.R215H			O75953	DNJB5_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 5	143					protein folding|response to unfolded protein		heat shock protein binding|unfolded protein binding			kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(32;0.00575)			GCTTTCGGCCGTTTTGGCTTC	0.602													16	18					0	0	1	0	0	A	34996478	G	A	34996478	3	1	81	1	0	0	0	0	1	0	0	0	4650	1145	40	1	654	1	DNAJB5	9	34996478	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	11	34996478	106216953	7194	10810											
C9orf131	138724	broad.mit.edu	37	9	35043629	35043629	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:35043629G>T	ENST00000312292.5	+	2	1050	c.1003G>T	c.(1003-1005)Gct>Tct	p.A335S	C9orf131_ENST00000421362.2_Missense_Mutation_p.A287S|C9orf131_ENST00000354479.5_Missense_Mutation_p.A262S	NM_001040410.1|NM_203299.2	NP_001035500.1|NP_976044.2	Q5VYM1	CI131_HUMAN	chromosome 9 open reading frame 131	335										cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39	all_epithelial(49;0.22)		LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)			GATGCCCCAAGCTTTTGAGCC	0.532													89	194					5.21634e-54	7.02647e-54	1	1	0	T	35043629	G	T	35043629	3	4	81	1	0	0	0	0	1	0	0	0	2475	971	34	4	1025	4	C9orf131	9	35043629	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	47151	35043629	106169802	7195	10811											
C9orf131	138724	broad.mit.edu	37	9	35044203	35044203	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:35044203A>C	ENST00000312292.5	+	2	1624	c.1577A>C	c.(1576-1578)gAa>gCa	p.E526A	C9orf131_ENST00000421362.2_Missense_Mutation_p.E478A|C9orf131_ENST00000354479.5_Missense_Mutation_p.E453A	NM_001040410.1|NM_203299.2	NP_001035500.1|NP_976044.2	Q5VYM1	CI131_HUMAN	chromosome 9 open reading frame 131	526										cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39	all_epithelial(49;0.22)		LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)			ACCCTTATGGAACCACACAGA	0.507													60	116					0	0	1	0	0	C	35044203	A	C	35044203	3	2	81	1	0	0	0	0	1	0	0	0	2475	246	9	5	1599	5	C9orf131	9	35044203	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	574	35044203	106169228	7196	10812											
C9orf131	138724	broad.mit.edu	37	9	35045619	35045619	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:35045619G>T	ENST00000312292.5	+	2	3040	c.2993G>T	c.(2992-2994)aGc>aTc	p.S998I	C9orf131_ENST00000421362.2_Missense_Mutation_p.S950I|C9orf131_ENST00000354479.5_Missense_Mutation_p.S925I	NM_001040410.1|NM_203299.2	NP_001035500.1|NP_976044.2	Q5VYM1	CI131_HUMAN	chromosome 9 open reading frame 131	998										cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39	all_epithelial(49;0.22)		LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)			AGGGGCCAGAGCTCTCAACAC	0.582													33	41					9.17885e-22	1.2033e-21	1	1	0	T	35045619	G	T	35045619	3	4	81	1	0	0	0	0	1	0	0	0	2475	971	34	4	3015	4	C9orf131	9	35045619	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1416	35045619	106167812	7197	10813											
VCP	7415	broad.mit.edu	37	9	35066787	35066787	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:35066787G>A	ENST00000358901.6	-	4	1225	c.330C>T	c.(328-330)taC>taT	p.Y110Y		NM_007126.3	NP_009057.1	P55072	TERA_HUMAN	valosin containing protein	110					activation of caspase activity|double-strand break repair|endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|retrograde protein transport, ER to cytosol	cytosol|endoplasmic reticulum|microsome|nucleus|proteasome complex	ATP binding|ATPase activity|lipid binding|polyubiquitin binding|protein domain specific binding|protein phosphatase binding			breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			TACGTTTGCCGTACTTCACAT	0.512													28	49					0	0	1	0	0	A	35066787	G	A	35066787	2	1	81	1	0	0	0	0	0	0	0	1	17200	1140	40	1		1	VCP	9	35066787	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	21168	35066787	106146644	7198	10814											
VCP	7415	broad.mit.edu	37	9	35068295	35068295	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:35068295C>G	ENST00000358901.6	-	2	977	c.82G>C	c.(82-84)Gtt>Ctt	p.V28L		NM_007126.3	NP_009057.1	P55072	TERA_HUMAN	valosin containing protein	28					activation of caspase activity|double-strand break repair|endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|retrograde protein transport, ER to cytosol	cytosol|endoplasmic reticulum|microsome|nucleus|proteasome complex	ATP binding|ATPase activity|lipid binding|polyubiquitin binding|protein domain specific binding|protein phosphatase binding			breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			GCTTCATCAACAATTAACCGA	0.453													20	342					0	0	1	0	0	G	35068295	C	G	35068295	3	3	81	1	0	0	0	0	1	0	0	0	17200	478	17	5	2402	5	VCP	9	35068295	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1508	35068295	106145136	7199	10815											
FANCG	2189	broad.mit.edu	37	9	35076575	35076575	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:35076575C>T	ENST00000378643.3	-	8	1421	c.930G>A	c.(928-930)ttG>ttA	p.L310L		NM_004629.1	NP_004620.1	O15287	FANCG_HUMAN	Fanconi anemia, complementation group G	310					cell cycle checkpoint|DNA repair|mitochondrion organization	mitochondrion|nucleoplasm	damaged DNA binding|protein binding	p.L310F(1)		NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(7)|ovary(2)|prostate(3)|stomach(1)	28			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			ATGGGACATTCAAGGCCTAAA	0.443			"Mis, N, F, S"			"AML, leukemia"		Involved in tolerance or repair of DNA crosslinks					27	50					0	0	1	0	0	T	35076575	C	T	35076575	2	4	81	1	0	0	0	0	0	0	0	1	5701	825	29	2		2	FANCG	9	35076575	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	8280	35076575	106136856	7200	10816											
PIGO	84720	broad.mit.edu	37	9	35090505	35090505	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:35090505G>T	ENST00000378617.3	-	8	3206	c.2812C>A	c.(2812-2814)Cta>Ata	p.L938I	PIGO_ENST00000361778.2_Missense_Mutation_p.L521I|PIGO_ENST00000341666.3_Missense_Mutation_p.L938I|PIGO_ENST00000298004.5_Missense_Mutation_p.L521I	NM_032634.3	NP_116023.2	Q8TEQ8	PIGO_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class O	938				PFTVPWQAVSAWALMATQTFYSTGHQPVFPAIHWHAAFVGF PEGHGSCTWLPALLVGANTFASHLLFAVGCPLLLLWPFLCE SQGL -> KYLSSDSLKDNSDVSSAPLVFKEVLLLMFLSLT EGPMPHTTRKVFLVSSLLPAIAKQIDPSCWFPGFMERRDKE SSKTPCGNAASS (in Ref. 8).	C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	transferase activity			endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			GCTCCCACTAGCAAAGCAGGC	0.557													13	24					4.36969e-10	5.3233e-10	1	1	0	T	35090505	G	T	35090505	3	4	81	1	0	0	0	0	1	0	0	0	11942	962	34	4	473	4	PIGO	9	35090505	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	13930	35090505	106122926	7201	10817											
PIGO	84720	broad.mit.edu	37	9	35091816	35091816	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:35091816G>A	ENST00000378617.3	-	7	2462	c.2068C>T	c.(2068-2070)Cgc>Tgc	p.R690C	PIGO_ENST00000361778.2_Intron|PIGO_ENST00000341666.3_Missense_Mutation_p.R690C|PIGO_ENST00000298004.5_Intron	NM_032634.3	NP_116023.2	Q8TEQ8	PIGO_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class O	690					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	transferase activity			endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			TTACCATAGCGGCGAAGCCAC	0.602													13	15					0	0	1	0	0	A	35091816	G	A	35091816	3	1	81	1	0	0	0	0	1	0	0	0	11942	1116	39	1	1221	1	PIGO	9	35091816	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1311	35091816	106121615	7202	10818											
PIGO	84720	broad.mit.edu	37	9	35093169	35093169	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:35093169G>A	ENST00000378617.3	-	6	1371	c.977C>T	c.(976-978)aCg>aTg	p.T326M	PIGO_ENST00000361778.2_Missense_Mutation_p.T326M|PIGO_ENST00000341666.3_Missense_Mutation_p.T326M|PIGO_ENST00000298004.5_Missense_Mutation_p.T326M	NM_032634.3	NP_116023.2	Q8TEQ8	PIGO_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class O	326					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	transferase activity			endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			CAGGGCCAGCGTGGGCACAAG	0.542													13	21					0	0	1	0	0	A	35093169	G	A	35093169	3	1	81	1	0	0	0	0	1	0	0	0	11942	1145	40	1	2316	1	PIGO	9	35093169	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1353	35093169	106120262	7203	10819											
STOML2	30968	broad.mit.edu	37	9	35100655	35100655	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:35100655C>A	ENST00000356493.5	-	9	935	c.873G>T	c.(871-873)aaG>aaT	p.K291N	STOML2_ENST00000452248.2_Missense_Mutation_p.K246N	NM_013442.1	NP_038470.1	Q9UJZ1	STML2_HUMAN	stomatin (EPB72)-like 2	291						cytoskeleton	receptor binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|prostate(1)	16			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			TGTTGGAGTCCTTGGCCAGTT	0.547													43	95					7.05121e-23	9.27266e-23	1	1	0	A	35100655	C	A	35100655	3	1	81	1	0	0	0	0	1	0	0	0	15370	680	24	4	205	4	STOML2	9	35100655	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	7486	35100655	106112776	7204	10820											
STOML2	30968	broad.mit.edu	37	9	35101490	35101490	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:35101490C>T	ENST00000356493.5	-	6	574	c.512G>A	c.(511-513)cGc>cAc	p.R171H	STOML2_ENST00000452248.2_Intron	NM_013442.1	NP_038470.1	Q9UJZ1	STML2_HUMAN	stomatin (EPB72)-like 2	171						cytoskeleton	receptor binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|prostate(1)	16			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			ACGGAGGCAGCGGATACCCCA	0.567													51	88					0	0	1	0	0	T	35101490	C	T	35101490	3	4	81	1	0	0	0	0	1	0	0	0	15370	768	27	1	578	1	STOML2	9	35101490	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	835	35101490	106111941	7205	10821											
UNC13B	10497	broad.mit.edu	37	9	35375166	35375166	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:35375166G>T	ENST00000378495.3	+	13	1558	c.1336G>T	c.(1336-1338)Gct>Tct	p.A446S	UNC13B_ENST00000378496.4_Missense_Mutation_p.A446S|UNC13B_ENST00000396787.1_Missense_Mutation_p.A458S	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	unc-13 homolog B (C. elegans)	446					excretion|induction of apoptosis|intracellular signal transduction	cell junction|Golgi apparatus|synapse	metal ion binding|receptor activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			TTCTGCAATGGCTACACGCAC	0.537													75	129					6.43283e-47	8.65544e-47	1	1	0	T	35375166	G	T	35375166	3	4	81	1	0	0	0	0	1	0	0	0	17045	1203	42	5	1386	5	UNC13B	9	35375166	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	273676	35375166	105838265	7206	10822											
UNC13B	10497	broad.mit.edu	37	9	35381199	35381199	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:35381199C>T	ENST00000378495.3	+	18	2453	c.2231C>T	c.(2230-2232)aCa>aTa	p.T744I	UNC13B_ENST00000378496.4_Missense_Mutation_p.T744I|UNC13B_ENST00000396787.1_Missense_Mutation_p.T756I	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	unc-13 homolog B (C. elegans)	744					excretion|induction of apoptosis|intracellular signal transduction	cell junction|Golgi apparatus|synapse	metal ion binding|receptor activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			GTGCAGTATACATGTCTCCAT	0.527													6	12					0	0	1	0	0	T	35381199	C	T	35381199	3	4	81	1	0	0	0	0	1	0	0	0	17045	478	17	2	2301	2	UNC13B	9	35381199	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	6033	35381199	105832232	7207	10823											
UNC13B	10497	broad.mit.edu	37	9	35386236	35386236	+	Silent	SNP	A	A	G	rs150519290		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:35386236A>G	ENST00000378495.3	+	23	3015	c.2793A>G	c.(2791-2793)acA>acG	p.T931T	UNC13B_ENST00000378496.4_Silent_p.T931T|UNC13B_ENST00000396787.1_Silent_p.T943T	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	unc-13 homolog B (C. elegans)	931					excretion|induction of apoptosis|intracellular signal transduction	cell junction|Golgi apparatus|synapse	metal ion binding|receptor activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			TGAACTCCACATATGAATATA	0.483													3	54					0	0	1	0	0	G	35386236	A	G	35386236	2	3	81	1	0	0	0	0	0	0	0	1	17045	204	8	3		3	UNC13B	9	35386236	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	5037	35386236	105827195	7208	10824											
UNC13B	10497	broad.mit.edu	37	9	35396556	35396556	+	Missense_Mutation	SNP	C	C	T	rs151027172	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:35396556C>T	ENST00000378495.3	+	26	3367	c.3145C>T	c.(3145-3147)Cgg>Tgg	p.R1049W	UNC13B_ENST00000378496.4_Missense_Mutation_p.R1049W|UNC13B_ENST00000396787.1_Missense_Mutation_p.R1061W|UNC13B_ENST00000481299.1_3'UTR	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	unc-13 homolog B (C. elegans)	1049	MHD1.				excretion|induction of apoptosis|intracellular signal transduction	cell junction|Golgi apparatus|synapse	metal ion binding|receptor activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			TGAATACGTGCGGGATCTGCC	0.552													19	28					0	0	1	0	0	T	35396556	C	T	35396556	3	4	81	1	0	0	0	0	1	0	0	0	17045	759	27	1	3247	1	UNC13B	9	35396556	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	10320	35396556	105816875	7209	10825											
UNC13B	10497	broad.mit.edu	37	9	35396885	35396885	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:35396885T>C	ENST00000378495.3	+	27	3458	c.3236T>C	c.(3235-3237)gTa>gCa	p.V1079A	UNC13B_ENST00000378496.4_Missense_Mutation_p.V1079A|UNC13B_ENST00000396787.1_Missense_Mutation_p.V1091A|UNC13B_ENST00000481299.1_3'UTR	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	unc-13 homolog B (C. elegans)	1079	MHD1.				excretion|induction of apoptosis|intracellular signal transduction	cell junction|Golgi apparatus|synapse	metal ion binding|receptor activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			AATGAGGATGTATCCCTGGAA	0.557													91	112					0	0	1	0	0	C	35396885	T	C	35396885	3	2	81	1	0	0	0	0	1	0	0	0	17045	1638	57	3	3342	3	UNC13B	9	35396885	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	329	35396885	105816546	7210	10826											
UNC13B	10497	broad.mit.edu	37	9	35403967	35403967	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:35403967C>T	ENST00000378495.3	+	39	4935	c.4713C>T	c.(4711-4713)gaC>gaT	p.D1571D	UNC13B_ENST00000378496.4_Silent_p.D1590D|UNC13B_ENST00000396787.1_Silent_p.D1602D	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	unc-13 homolog B (C. elegans)	1571					excretion|induction of apoptosis|intracellular signal transduction	cell junction|Golgi apparatus|synapse	metal ion binding|receptor activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			GGAGCAATGACGAGGTGGCCC	0.552													5	51					0	0	1	0	0	T	35403967	C	T	35403967	2	4	81	1	0	0	0	0	0	0	0	1	17045	535	19	1		1	UNC13B	9	35403967	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	7082	35403967	105809464	7211	10827											
RUSC2	9853	broad.mit.edu	37	9	35560530	35560530	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:35560530G>A	ENST00000455600.1	+	10	4462	c.3893G>A	c.(3892-3894)aGc>aAc	p.S1298N		NM_001135999.1	NP_001129471	Q8N2Y8	RUSC2_HUMAN	RUN and SH3 domain containing 2	1298						cytosol				NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			AGCAGCAACAGCAGCAGCGAG	0.642													22	36					0	0	1	0	0	A	35560530	G	A	35560530	3	1	81	1	0	0	0	0	1	0	0	0	13803	971	34	2	3927	2	RUSC2	9	35560530	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	156563	35560530	105652901	7212	10828											
CCDC107	203260	broad.mit.edu	37	9	35660849	35660849	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:35660849G>T	ENST00000426546.2	+	5	583	c.517G>T	c.(517-519)Gaa>Taa	p.E173*	CCDC107_ENST00000421582.2_3'UTR|CCDC107_ENST00000327351.2_3'UTR|ARHGEF39_ENST00000343259.3_3'UTR|CCDC107_ENST00000378406.1_3'UTR|ARHGEF39_ENST00000378387.3_3'UTR|ARHGEF39_ENST00000378395.2_3'UTR|CCDC107_ENST00000378407.3_3'UTR|CCDC107_ENST00000378409.3_Nonsense_Mutation_p.E173*	NM_001195200.1|NM_001195201.1|NM_001195217.1|NM_174923.2	NP_001182129.1|NP_001182130.1|NP_001182146.1|NP_777583.2	Q8WV48	CC107_HUMAN	coiled-coil domain containing 107	173						integral to membrane				endometrium(1)|lung(3)|skin(1)	5	all_epithelial(49;0.217)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GGAGGCTTCAGAACCAGGTGA	0.557													14	205					1.15088e-07	1.34837e-07	1	1	0	T	35660849	G	T	35660849	4	4	81	1	0	0	0	0	0	1	0	0	2760	943	33	4	535	4	CCDC107	9	35660849	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	100319	35660849	105552582	7213	10829											
CCDC107	203260	broad.mit.edu	37	9	35661071	35661071	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:35661071C>T	ENST00000426546.2	+	5	805	c.739C>T	c.(739-741)Cgg>Tgg	p.R247W	CCDC107_ENST00000421582.2_3'UTR|CCDC107_ENST00000327351.2_3'UTR|ARHGEF39_ENST00000343259.3_3'UTR|CCDC107_ENST00000378406.1_3'UTR|ARHGEF39_ENST00000378387.3_3'UTR|ARHGEF39_ENST00000378395.2_3'UTR|CCDC107_ENST00000378407.3_3'UTR|CCDC107_ENST00000378409.3_Missense_Mutation_p.R220W	NM_001195200.1|NM_001195201.1|NM_001195217.1|NM_174923.2	NP_001182129.1|NP_001182130.1|NP_001182146.1|NP_777583.2	Q8WV48	CC107_HUMAN	coiled-coil domain containing 107	247						integral to membrane				endometrium(1)|lung(3)|skin(1)	5	all_epithelial(49;0.217)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GGAGGTGGGGCGGGGACTACG	0.592													5	76					0	0	1	0	0	T	35661071	C	T	35661071	3	4	81	1	0	0	0	0	1	0	0	0	2760	759	27	1	757	1	CCDC107	9	35661071	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	222	35661071	105552360	7214	10830											
CA9	768	broad.mit.edu	37	9	35675906	35675906	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:35675906C>T	ENST00000378357.4	+	3	686	c.582C>T	c.(580-582)cgC>cgT	p.R194R		NM_001216.2	NP_001207.2	Q16790	CAH9_HUMAN	carbonic anhydrase IX	194	Catalytic.				one-carbon metabolic process	integral to membrane|microvillus membrane|nucleolus	carbonate dehydratase activity|zinc ion binding			kidney(1)|large_intestine(3)|lung(5)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	17	all_epithelial(49;0.217)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CAGAACTGCGCCTGCGCAACA	0.726													7	10					0	0	1	0	0	T	35675906	C	T	35675906	2	4	81	1	0	0	0	0	0	0	0	1	2542	726	26	2		2	CA9	9	35675906	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	14835	35675906	105537525	7215	10831											
CREB3	10488	broad.mit.edu	37	9	35736702	35736702	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:35736702G>A	ENST00000353704.2	+	9	1533	c.1095G>A	c.(1093-1095)ttG>ttA	p.L365L	CREB3_ENST00000486056.1_3'UTR	NM_006368.4	NP_006359.3	O43889	CREB3_HUMAN	cAMP responsive element binding protein 3	389	Pro-rich.				chemotaxis|induction of positive chemotaxis|interspecies interaction between organisms|negative regulation of cell cycle|positive regulation of calcium ion transport|positive regulation of cell migration|positive regulation of transcription, DNA-dependent|reactivation of latent virus|regulation of cell proliferation	cytosol|endoplasmic reticulum|endoplasmic reticulum membrane|Golgi apparatus|integral to membrane|nucleus	cAMP response element binding protein binding|CCR1 chemokine receptor binding|DNA binding|protein dimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|urinary_tract(1)	9	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)	GBM - Glioblastoma multiforme(74;0.0285)		CTGTCATTTTGCAGGACAGAT	0.562											OREG0019176	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	21	149					0	0	1	0	0	A	35736702	G	A	35736702	2	1	81	1	0	0	0	0	0	0	0	1	3878	1310	46	2		2	CREB3	9	35736702	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	60796	35736702	105476729	7216	10832											
GBA2	57704	broad.mit.edu	37	9	35738597	35738597	+	Translation_Start_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:35738597C>A	ENST00000378088.1	-	0	35				GBA2_ENST00000467252.1_5'UTR|GBA2_ENST00000545786.1_Missense_Mutation_p.K666N|GBA2_ENST00000378094.4_Missense_Mutation_p.K660N|GBA2_ENST00000378103.3_Missense_Mutation_p.K660N			Q9HCG7	GBA2_HUMAN	glucosidase, beta (bile acid) 2						bile acid metabolic process|glucosylceramide catabolic process|O-glycoside catabolic process	integral to membrane|microsome|plasma membrane|smooth endoplasmic reticulum	beta-glucosidase activity|glucosylceramidase activity			NS(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(4)|skin(3)	21	all_epithelial(49;0.167)		Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CATCATGGTCCTTGTCAAACT	0.517													9	66					0.38729	0.388598	1	1	0	A	35738597	C	A	35738597	1	1	81	1	0	0	0	0	0	0	0	0	6307	680	24	4		4	GBA2	9	35738597	Translation_Start_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1895	35738597	105474834	7217	10833											
RGP1	9827	broad.mit.edu	37	9	35750902	35750902	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:35750902G>A	ENST00000378078.4	+	5	544	c.403G>A	c.(403-405)Gtc>Atc	p.V135I	RGP1_ENST00000456972.2_Missense_Mutation_p.V175I	NM_001080496.2	NP_001073965.2	Q92546	RGP1_HUMAN	RGP1 retrograde golgi transport homolog (S. cerevisiae)	135										cervix(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	14	all_epithelial(49;0.167)		Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			AGTCAAGTACGTCTACAAACT	0.542													16	28					0	0	1	0	0	A	35750902	G	A	35750902	3	1	81	1	0	0	0	0	1	0	0	0	13336	1145	40	1	545	1	RGP1	9	35750902	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	12305	35750902	105462529	7218	10834											
NPR2	4882	broad.mit.edu	37	9	35792411	35792411	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:35792411G>A	ENST00000342694.2	+	1	261	c.6G>A	c.(4-6)gcG>gcA	p.A2A		NM_003995.3	NP_003986.2	P20594	ANPRB_HUMAN	natriuretic peptide receptor B/guanylate cyclase B (atrionatriuretic peptide receptor B)	2					intracellular signal transduction|ossification|receptor guanylyl cyclase signaling pathway|regulation of blood pressure	integral to membrane|plasma membrane	GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|protein kinase activity|transmembrane receptor activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)	TCCCCATGGCGCTGCCATCAC	0.687													9	11					0	0	1	0	0	A	35792411	G	A	35792411	2	1	81	1	0	0	0	0	0	0	0	1	10643	1074	38	1		1	NPR2	9	35792411	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	41509	35792411	105421020	7219	10835											
NPR2	4882	broad.mit.edu	37	9	35805938	35805938	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:35805938G>A	ENST00000342694.2	+	14	2414	c.2159G>A	c.(2158-2160)cGc>cAc	p.R720H		NM_003995.3	NP_003986.2	P20594	ANPRB_HUMAN	natriuretic peptide receptor B/guanylate cyclase B (atrionatriuretic peptide receptor B)	720	Protein kinase.				intracellular signal transduction|ossification|receptor guanylyl cyclase signaling pathway|regulation of blood pressure	integral to membrane|plasma membrane	GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|protein kinase activity|transmembrane receptor activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)	ATAGCACTTCGCAGTGGTCCT	0.547													40	49					0	0	1	0	0	A	35805938	G	A	35805938	3	1	81	1	0	0	0	0	1	0	0	0	10643	1087	38	1	2213	1	NPR2	9	35805938	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	13527	35805938	105407493	7220	10836											
NPR2	4882	broad.mit.edu	37	9	35807348	35807348	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:35807348C>A	ENST00000342694.2	+	18	2920	c.2665C>A	c.(2665-2667)Ctg>Atg	p.L889M		NM_003995.3	NP_003986.2	P20594	ANPRB_HUMAN	natriuretic peptide receptor B/guanylate cyclase B (atrionatriuretic peptide receptor B)	889	Guanylate cyclase.				intracellular signal transduction|ossification|receptor guanylyl cyclase signaling pathway|regulation of blood pressure	integral to membrane|plasma membrane	GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|protein kinase activity|transmembrane receptor activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)	TCTTAATGACCTGTATACCTG	0.428													58	126					3.30712e-30	4.40949e-30	1	1	0	A	35807348	C	A	35807348	3	1	81	1	0	0	0	0	1	0	0	0	10643	680	24	4	2735	4	NPR2	9	35807348	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1410	35807348	105406083	7221	10837											
RECK	8434	broad.mit.edu	37	9	36109991	36109991	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:36109991T>C	ENST00000377966.3	+	15	2369	c.1803T>C	c.(1801-1803)tgT>tgC	p.C601C		NM_021111.2	NP_066934.1	O95980	RECK_HUMAN	reversion-inducing-cysteine-rich protein with kazal motifs	601						anchored to membrane|peripheral to membrane of membrane fraction|plasma membrane	metalloendopeptidase inhibitor activity|serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228)			GCAATGTCTGTTCTTGTTTTG	0.438													76	96					0	0	1	0	0	C	36109991	T	C	36109991	2	2	81	1	0	0	0	0	0	0	0	1	13252	1731	60	3		3	RECK	9	36109991	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	302643	36109991	105103440	7222	10838											
RECK	8434	broad.mit.edu	37	9	36121545	36121545	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:36121545C>T	ENST00000377966.3	+	20	3120	c.2554C>T	c.(2554-2556)Cca>Tca	p.P852S		NM_021111.2	NP_066934.1	O95980	RECK_HUMAN	reversion-inducing-cysteine-rich protein with kazal motifs	852						anchored to membrane|peripheral to membrane of membrane fraction|plasma membrane	metalloendopeptidase inhibitor activity|serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228)			AAATAAAAAGCCAATAACAGT	0.403													24	54					0	0	1	0	0	T	36121545	C	T	36121545	3	4	81	1	0	0	0	0	1	0	0	0	13252	739	26	2	2632	2	RECK	9	36121545	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	11554	36121545	105091886	7223	10839											
CLTA	1211	broad.mit.edu	37	9	36199092	36199092	+	Splice_Site	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:36199092T>C	ENST00000433436.2	+	3	573	c.372T>C	c.(370-372)ctT>ctC	p.L124L	CLTA_ENST00000345519.5_Splice_Site_p.L124L|CLTA_ENST00000540080.1_Intron|CLTA_ENST00000538225.1_Splice_Site_p.L124L|CLTA_ENST00000470744.1_Splice_Site_p.L124L|CLTA_ENST00000466396.1_Intron|CLTA_ENST00000242285.6_Splice_Site_p.L124L|CLTA_ENST00000396603.2_Splice_Site_p.L124L	NM_007096.3	NP_009027.1	P09496	CLCA_HUMAN	clathrin, light chain A	124	Involved in binding clathrin heavy chain.				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol	structural molecule activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(1)	6			STAD - Stomach adenocarcinoma(86;0.228)			TGGAAGCCCTTGGTAAGGAAT	0.423													9	122					0	0	1	0	0	C	36199092	T	C	36199092	5	2	81	1	0	0	0	0	0	0	1	0	3587	1826	63	3	382	3	CLTA	9	36199092	Splice_Site	SNP	T	TCGA-DU-6392-01A-11D-1705-08	77547	36199092	105014339	7224	10840											
RNF38	152006	broad.mit.edu	37	9	36357831	36357831	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:36357831G>T	ENST00000357058.3	-	5	1036	c.430C>A	c.(430-432)Cca>Aca	p.P144T	RNF38_ENST00000259605.6_Missense_Mutation_p.P227T|RNF38_ENST00000350199.4_Missense_Mutation_p.P144T|RNF38_ENST00000491349.1_5'UTR|RNF38_ENST00000377885.2_Missense_Mutation_p.P144T|RNF38_ENST00000377877.4_Missense_Mutation_p.P151T|RNF38_ENST00000353739.4_Missense_Mutation_p.P177T	NM_194328.2	NP_919309.1	Q9H0F5	RNF38_HUMAN	ring finger protein 38	227							zinc ion binding			breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|liver(1)|lung(3)|stomach(1)	11			STAD - Stomach adenocarcinoma(86;0.228)			GAGCATCCTGGGACCTGCTGT	0.483													29	33					1.77063e-15	2.25974e-15	1	1	0	T	36357831	G	T	36357831	3	4	81	1	0	0	0	0	1	0	0	0	13542	1232	43	5	900	5	RNF38	9	36357831	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	158739	36357831	104855600	7225	10841											
PAX5	5079	broad.mit.edu	37	9	36882013	36882013	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:36882013C>A	ENST00000358127.4	-	8	1074	c.1000G>T	c.(1000-1002)Ggg>Tgg	p.G334W	PAX5_ENST00000523145.1_Intron|PAX5_ENST00000520154.1_Intron|PAX5_ENST00000377847.2_Intron|PAX5_ENST00000446742.1_Intron|PAX5_ENST00000523241.1_Intron|PAX5_ENST00000414447.1_Missense_Mutation_p.G291W|PAX5_ENST00000377853.2_Missense_Mutation_p.G334W|PAX5_ENST00000377852.2_Intron|PAX5_ENST00000522003.1_Missense_Mutation_p.G226W|PAX5_ENST00000520281.1_Missense_Mutation_p.G291W	NM_001280554.1|NM_001280556.1|NM_016734.1	NP_001267483.1|NP_001267485.1|NP_057953.1	Q02548	PAX5_HUMAN	paired box 5	334					cell differentiation|humoral immune response|nervous system development|organ morphogenesis|spermatogenesis|transcription from RNA polymerase II promoter	nucleus	DNA binding	p.?(22)	PAX5/JAK2(18)	NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(151)|kidney(1)|lung(10)|prostate(1)|skin(1)	171		all_cancers(2;3.46e-10)|Acute lymphoblastic leukemia(2;7.09e-56)|all_hematologic(2;6.65e-44)		GBM - Glioblastoma multiforme(29;0.0108)		GGCACCATCCCTGTCAGCGTC	0.667			"T, Mis, D, F, S"	"IGH@, ETV6, PML, FOXP1, ZNF521, ELN"	"NHL, ALL, B-ALL"								8	8					0.000157383	0.000171784	1	1	0	A	36882013	C	A	36882013	3	1	81	1	0	0	0	0	1	0	0	0	11529	681	24	4	187	4	PAX5	9	36882013	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	524182	36882013	104331418	7226	10842											
PAX5	5079	broad.mit.edu	37	9	37014994	37014994	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:37014994C>A	ENST00000358127.4	-	3	484	c.410G>T	c.(409-411)aGg>aTg	p.R137M	PAX5_ENST00000523145.1_Splice_Site_p.R29M|PAX5_ENST00000520154.1_Splice_Site_p.R137M|PAX5_ENST00000377847.2_Splice_Site_p.R137M|PAX5_ENST00000446742.1_Intron|PAX5_ENST00000523241.1_Splice_Site_p.R137M|PAX5_ENST00000414447.1_Splice_Site_p.R137M|PAX5_ENST00000377853.2_Splice_Site_p.R137M|PAX5_ENST00000377852.2_Splice_Site_p.R137M|PAX5_ENST00000522003.1_Splice_Site_p.R29M|PAX5_ENST00000520281.1_Splice_Site_p.R137M	NM_001280554.1|NM_001280556.1|NM_016734.1	NP_001267483.1|NP_001267485.1|NP_057953.1	Q02548	PAX5_HUMAN	paired box 5	137	Paired.				cell differentiation|humoral immune response|nervous system development|organ morphogenesis|spermatogenesis|transcription from RNA polymerase II promoter	nucleus	DNA binding	p.?(42)	PAX5/JAK2(18)	NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(151)|kidney(1)|lung(10)|prostate(1)|skin(1)	171		all_cancers(2;3.46e-10)|Acute lymphoblastic leukemia(2;7.09e-56)|all_hematologic(2;6.65e-44)		GBM - Glioblastoma multiforme(29;0.0108)		AGCCCCTCACCTGTTGATGGA	0.582			"T, Mis, D, F, S"	"IGH@, ETV6, PML, FOXP1, ZNF521, ELN"	"NHL, ALL, B-ALL"								6	140					0.217242	0.218703	1	1	0	A	37014994	C	A	37014994	5	1	81	1	0	0	0	0	0	0	1	0	11529	695	24	4	797	4	PAX5	9	37014994	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	132981	37014994	104198437	7227	10843											
ZCCHC7	84186	broad.mit.edu	37	9	37126625	37126625	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:37126625G>T	ENST00000336755.5	+	2	402	c.296G>T	c.(295-297)aGt>aTt	p.S99I	ZCCHC7_ENST00000461038.1_3'UTR|ZCCHC7_ENST00000534928.1_Intron|ZCCHC7_ENST00000322831.6_Missense_Mutation_p.S98I	NM_032226.2	NP_115602.2	Q8N3Z6	ZCHC7_HUMAN	zinc finger, CCHC domain containing 7	99							nucleic acid binding|zinc ion binding	p.S99T(1)		central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	30				GBM - Glioblastoma multiforme(29;0.0137)		GATGAAGACAGTATTTATAGA	0.383													17	191					9.16793e-09	1.09544e-08	1	1	0	T	37126625	G	T	37126625	3	4	81	1	0	0	0	0	1	0	0	0	17651	1029	36	4	298	4	ZCCHC7	9	37126625	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	111631	37126625	104086806	7228	10844											
ZCCHC7	84186	broad.mit.edu	37	9	37304256	37304256	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:37304256C>A	ENST00000336755.5	+	4	832	c.726C>A	c.(724-726)atC>atA	p.I242I	ZCCHC7_ENST00000461038.1_3'UTR|ZCCHC7_ENST00000534928.1_5'UTR	NM_032226.2	NP_115602.2	Q8N3Z6	ZCHC7_HUMAN	zinc finger, CCHC domain containing 7	242							nucleic acid binding|zinc ion binding			central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	30				GBM - Glioblastoma multiforme(29;0.0137)		AAAACATTATCTGTAGAAATT	0.373													5	68					0.0215528	0.0221217	1	1	0	A	37304256	C	A	37304256	2	1	81	1	0	0	0	0	0	0	0	1	17651	903	32	4		4	ZCCHC7	9	37304256	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	177631	37304256	103909175	7229	10845											
ZBTB5	9925	broad.mit.edu	37	9	37442057	37442057	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:37442057G>A	ENST00000307750.4	-	2	680	c.492C>T	c.(490-492)ggC>ggT	p.G164G		NM_014872.2	NP_055687.1	O15062	ZBTB5_HUMAN	zinc finger and BTB domain containing 5	164					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)	8				GBM - Glioblastoma multiforme(29;0.00733)|Lung(182;0.226)		GCTGCTCCTCGCCATTCTGGC	0.602													22	45					0	0	1	0	0	A	37442057	G	A	37442057	2	1	81	1	0	0	0	0	0	0	0	1	17610	1074	38	1		1	ZBTB5	9	37442057	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	137801	37442057	103771374	7230	10846											
FBXO10	26267	broad.mit.edu	37	9	37512652	37512652	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:37512652G>T	ENST00000432825.2	-	11	2811	c.2763C>A	c.(2761-2763)ccC>ccA	p.P921P	FBXO10_ENST00000541829.1_Silent_p.P446P|RP11-613M10.8_ENST00000544475.1_5'UTR	NM_012166.2	NP_036298.2	Q9UK96	FBX10_HUMAN	F-box protein 10	921						ubiquitin ligase complex	ubiquitin-protein ligase activity			breast(1)|endometrium(5)|large_intestine(11)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	34				GBM - Glioblastoma multiforme(29;0.0107)		GGGCTGCCGAGGGACGTCTGA	0.577													8	79					1.06961e-07	1.25755e-07	1	1	0	T	37512652	G	T	37512652	2	4	81	1	0	0	0	0	0	0	0	1	5759	987	35	4		4	FBXO10	9	37512652	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	70595	37512652	103700779	7231	10847											
FBXO10	26267	broad.mit.edu	37	9	37518375	37518375	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:37518375G>A	ENST00000432825.2	-	9	2309	c.2261C>T	c.(2260-2262)gCg>gTg	p.A754V	FBXO10_ENST00000541829.1_Missense_Mutation_p.A279V|RP11-613M10.8_ENST00000544475.1_5'UTR	NM_012166.2	NP_036298.2	Q9UK96	FBX10_HUMAN	F-box protein 10	754						ubiquitin ligase complex	ubiquitin-protein ligase activity			breast(1)|endometrium(5)|large_intestine(11)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	34				GBM - Glioblastoma multiforme(29;0.0107)		GTCCCCATTCGCGTGGATCAC	0.587													12	20					0	0	1	0	0	A	37518375	G	A	37518375	3	1	81	1	0	0	0	0	1	0	0	0	5759	1087	38	1	621	1	FBXO10	9	37518375	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	5723	37518375	103695056	7232	10848											
FRMPD1	22844	broad.mit.edu	37	9	37740152	37740152	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:37740152C>T	ENST00000539465.1	+	15	2220	c.1627C>T	c.(1627-1629)Cgc>Tgc	p.R543C	RP11-613M10.9_ENST00000540557.1_Intron|FRMPD1_ENST00000377765.3_Missense_Mutation_p.R543C|FRMPD1_ENST00000541302.1_Missense_Mutation_p.R412C|FRMPD1_ENST00000536622.1_Missense_Mutation_p.R365C			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	543						cytoskeleton|cytosol|plasma membrane				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		CTCTGACAGGCGCCTGGTGAA	0.597													35	58					0	0	1	0	0	T	37740152	C	T	37740152	3	4	81	1	0	0	0	0	1	0	0	0	6092	768	27	1	1681	1	FRMPD1	9	37740152	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	221777	37740152	103473279	7233	10849											
DCAF10	79269	broad.mit.edu	37	9	37854804	37854804	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:37854804G>T	ENST00000242323.7	+	4	953	c.879G>T	c.(877-879)aaG>aaT	p.K293N	DCAF10_ENST00000377724.3_Missense_Mutation_p.K293N|RP11-613M10.9_ENST00000540557.1_Intron			Q5QP82	DCA10_HUMAN	DDB1 and CUL4 associated factor 10	293						CUL4 RING ubiquitin ligase complex				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	12						GTCCACATAAGAAATTCTTTC	0.343													13	121					2.61681e-11	3.23796e-11	1	1	0	T	37854804	G	T	37854804	3	4	81	1	0	0	0	0	1	0	0	0	4285	933	33	4	893	4	DCAF10	9	37854804	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	114652	37854804	103358627	7234	10850											
DCAF10	79269	broad.mit.edu	37	9	37857348	37857348	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:37857348G>T	ENST00000377724.3	+	5	1530	c.1165G>T	c.(1165-1167)Gga>Tga	p.G389*	DCAF10_ENST00000242323.7_Intron|RP11-613M10.9_ENST00000540557.1_Intron|DCAF10_ENST00000483167.1_Intron	NM_024345.3	NP_077321.3	Q5QP82	DCA10_HUMAN	DDB1 and CUL4 associated factor 10	389						CUL4 RING ubiquitin ligase complex				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	12						TCAAAGAGAAGGTAGGTTAAA	0.333													25	37					7.33532e-06	8.31348e-06	1	1	0	T	37857348	G	T	37857348	5	4	81	1	0	0	0	0	0	0	1	0	4285	1014	35	4	1183	4	DCAF10	9	37857348	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2544	37857348	103356083	7235	10851											
SHB	6461	broad.mit.edu	37	9	38068631	38068631	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:38068631C>T	ENST00000377707.3	-	1	577	c.12G>A	c.(10-12)tgG>tgA	p.W4*	SHB_ENST00000377700.4_Nonsense_Mutation_p.W4*|RP11-613M10.9_ENST00000540557.1_Nonsense_Mutation_p.W4*	NM_003028.2	NP_003019.2	Q15464	SHB_HUMAN	Src homology 2 domain containing adaptor protein B	4	Mediates interaction with LAT, FAK1, JAK1 and JAK3.				angiogenesis|apoptosis|cell differentiation|signal transduction	cytoplasm|plasma membrane	SH3/SH2 adaptor activity			central_nervous_system(2)|endometrium(4)|lung(1)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)	11		all_epithelial(88;0.122)		GBM - Glioblastoma multiforme(29;3.27e-05)|Lung(182;0.0658)		ACTTGTTTAGCCACTTGGCCA	0.741													5	7					0	0	1	0	0	T	38068631	C	T	38068631	4	4	81	1	0	0	0	0	0	1	0	0	14323	740	26	2	1541	2	SHB	9	38068631	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	211283	38068631	103144800	7236	10852											
ALDH1B1	219	broad.mit.edu	37	9	38395947	38395947	+	Missense_Mutation	SNP	G	G	A	rs143477600		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:38395947G>A	ENST00000377698.3	+	2	355	c.202G>A	c.(202-204)Gtg>Atg	p.V68M		NM_000692.4	NP_000683.3	P30837	AL1B1_HUMAN	aldehyde dehydrogenase 1 family, member B1	68					carbohydrate metabolic process	mitochondrial matrix|nucleus	aldehyde dehydrogenase (NAD) activity			NS(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(2)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(29;0.043)|Lung(182;0.115)	NADH(DB00157)	CATTGGGCACGTGGCTGAAGG	0.617													30	41					0	0	1	0	0	A	38395947	G	A	38395947	3	1	81	1	0	0	0	0	1	0	0	0	490	1145	40	1	204	1	ALDH1B1	9	38395947	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	327316	38395947	102817484	7237	10853											
ALDH1B1	219	broad.mit.edu	37	9	38396998	38396998	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:38396998T>G	ENST00000377698.3	+	2	1406	c.1253T>G	c.(1252-1254)tTt>tGt	p.F418C		NM_000692.4	NP_000683.3	P30837	AL1B1_HUMAN	aldehyde dehydrogenase 1 family, member B1	418					carbohydrate metabolic process	mitochondrial matrix|nucleus	aldehyde dehydrogenase (NAD) activity			NS(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(2)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(29;0.043)|Lung(182;0.115)	NADH(DB00157)	GAGGAGATCTTTGGGCCTGTG	0.557													12	26					0	0	1	0	0	G	38396998	T	G	38396998	3	3	81	1	0	0	0	0	1	0	0	0	490	1841	64	5	1255	5	ALDH1B1	9	38396998	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	1051	38396998	102816433	7238	10854											
IGFBPL1	347252	broad.mit.edu	37	9	38411458	38411458	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:38411458G>A	ENST00000377694.1	-	4	798	c.776C>T	c.(775-777)aCg>aTg	p.T259M		NM_001007563.1	NP_001007564.1	Q8WX77	IBPL1_HUMAN	insulin-like growth factor binding protein-like 1	259	Ig-like C2-type.				regulation of cell growth	extracellular region	insulin-like growth factor binding			endometrium(1)|lung(2)|upper_aerodigestive_tract(1)	4				GBM - Glioblastoma multiforme(29;0.0437)|Lung(182;0.116)		ATCTAGAACCGTCACTGTGCT	0.483													19	21					0	0	1	0	0	A	38411458	G	A	38411458	3	1	81	1	0	0	0	0	1	0	0	0	7629	1145	40	1	64	1	IGFBPL1	9	38411458	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	14460	38411458	102801973	7239	10855											
IGFBPL1	347252	broad.mit.edu	37	9	38413250	38413250	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:38413250G>T	ENST00000377694.1	-	3	693	c.671C>A	c.(670-672)gCc>gAc	p.A224D		NM_001007563.1	NP_001007564.1	Q8WX77	IBPL1_HUMAN	insulin-like growth factor binding protein-like 1	224	Ig-like C2-type.				regulation of cell growth	extracellular region	insulin-like growth factor binding			endometrium(1)|lung(2)|upper_aerodigestive_tract(1)	4				GBM - Glioblastoma multiforme(29;0.0437)|Lung(182;0.116)		CCAGGCCGTGGCCTCATGGTC	0.473													22	33					4.26978e-12	5.32034e-12	1	1	0	T	38413250	G	T	38413250	3	4	81	1	0	0	0	0	1	0	0	0	7629	1203	42	5	173	5	IGFBPL1	9	38413250	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1792	38413250	102800181	7240	10856											
ZNF658	26149	broad.mit.edu	37	9	40773300	40773300	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:40773300C>T	ENST00000602553.1	-	5	2269	c.1975G>A	c.(1975-1977)Gaa>Aaa	p.E659K	ZNF658_ENST00000441795.1_Intron|ZNF658_ENST00000377626.3_Missense_Mutation_p.E659K			Q5TYW1	ZN658_HUMAN	zinc finger protein 658	659					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	46				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		TCATTACATTCATAGGGTTTC	0.418													53	136					0	0	1	0	0	T	40773300	C	T	40773300	3	4	81	1	0	0	0	0	1	0	0	0	18126	835	29	2	1208	2	ZNF658	9	40773300	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2360050	40773300	100440131	7241	10857											
PGM5	5239	broad.mit.edu	37	9	71114241	71114241	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:71114241C>T	ENST00000396396.1	+	10	1807	c.1578C>T	c.(1576-1578)taC>taT	p.Y526Y		NM_021965.3	NP_068800.2	Q15124	PGM5_HUMAN	phosphoglucomutase 5	526					cell adhesion|cellular calcium ion homeostasis|glucose metabolic process	costamere|dystrophin-associated glycoprotein complex|focal adhesion|intercalated disc|internal side of plasma membrane|sarcolemma|spot adherens junction|stress fiber|Z disc	intramolecular transferase activity, phosphotransferases|magnesium ion binding|structural molecule activity			endometrium(5)|kidney(1)|large_intestine(5)|liver(2)|lung(15)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	34						CAGAGAGCTACGAGAGGGATC	0.577													14	26					0	0	1	0	0	T	71114241	C	T	71114241	2	4	81	1	0	0	0	0	0	0	0	1	11849	547	19	1		1	PGM5	9	71114241	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	30340941	71114241	70099190	7242	10858											
TJP2	9414	broad.mit.edu	37	9	71833262	71833262	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:71833262A>G	ENST00000377245.4	+	4	537	c.329A>G	c.(328-330)aAg>aGg	p.K110R	TJP2_ENST00000535702.1_Missense_Mutation_p.K114R|TJP2_ENST00000539225.1_Missense_Mutation_p.K141R|TJP2_ENST00000377259.1_Missense_Mutation_p.K87R|TJP2_ENST00000453658.2_Missense_Mutation_p.K87R|TJP2_ENST00000265384.7_Missense_Mutation_p.K110R|TJP2_ENST00000348208.4_Missense_Mutation_p.K110R	NM_004817.3	NP_004808.2	Q9UDY2	ZO2_HUMAN	tight junction protein 2	110	PDZ 1.				cellular component disassembly involved in apoptosis	adherens junction|cytoplasm|nucleus|tight junction	guanylate kinase activity|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(5)|lung(9)|prostate(3)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	35						AAAAGTGGGAAGGTCGCTGCT	0.433													10	21					0	0	1	0	0	G	71833262	A	G	71833262	3	3	81	1	0	0	0	0	1	0	0	0	15990	72	3	3	500	3	TJP2	9	71833262	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	719021	71833262	69380169	7243	10859											
TJP2	9414	broad.mit.edu	37	9	71869245	71869245	+	Silent	SNP	C	C	T	rs147675640		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:71869245C>T	ENST00000377245.4	+	23	3736	c.3528C>T	c.(3526-3528)cgC>cgT	p.R1176R	TJP2_ENST00000535702.1_Silent_p.R1143R|TJP2_ENST00000539225.1_Silent_p.R1207R|TJP2_ENST00000453658.2_Silent_p.R1006R|TJP2_ENST00000348208.4_Silent_p.R1029R	NM_004817.3	NP_004808.2	Q9UDY2	ZO2_HUMAN	tight junction protein 2	1176					cellular component disassembly involved in apoptosis	adherens junction|cytoplasm|nucleus|tight junction	guanylate kinase activity|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(5)|lung(9)|prostate(3)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	35						ACTCCAAGCGCGGTTACTATG	0.552													6	71					0	0	1	0	0	T	71869245	C	T	71869245	2	4	81	1	0	0	0	0	0	0	0	1	15990	755	27	1		1	TJP2	9	71869245	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	35983	71869245	69344186	7244	10860											
APBA1	320	broad.mit.edu	37	9	72131307	72131307	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:72131307C>A	ENST00000265381.4	-	2	1042	c.820G>T	c.(820-822)Gtg>Ttg	p.V274L		NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 1	274	Munc-18-1 binding.				axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle				endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						ACCTCGGCCACTATCTGGTCG	0.677													5	17					1	1	1	1	0	A	72131307	C	A	72131307	3	1	81	1	0	0	0	0	1	0	0	0	752	565	20	4	1741	4	APBA1	9	72131307	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	262062	72131307	69082124	7245	10861											
APBA1	320	broad.mit.edu	37	9	72131763	72131763	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:72131763A>G	ENST00000265381.4	-	2	586	c.364T>C	c.(364-366)Tac>Cac	p.Y122H		NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 1	122					axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle				endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						TCGGGCCGGTACTGCACAGCA	0.731													3	25					0	0	1	0	0	G	72131763	A	G	72131763	3	3	81	1	0	0	0	0	1	0	0	0	752	391	14	3	2197	3	APBA1	9	72131763	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	456	72131763	69081668	7246	10862											
PTAR1	375743	broad.mit.edu	37	9	72338485	72338485	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:72338485C>A	ENST00000377200.5	-	4	469	c.467G>T	c.(466-468)aGt>aTt	p.S156I	PTAR1_ENST00000340434.4_Missense_Mutation_p.S235I			Q7Z6K3	PTAR1_HUMAN	protein prenyltransferase alpha subunit repeat containing 1	235					protein prenylation		protein prenyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)	5						GTGAAATCCACTGTGGTCTGA	0.398													21	65					1.50039e-11	1.86073e-11	1	1	0	A	72338485	C	A	72338485	3	1	81	1	0	0	0	0	1	0	0	0	12773	565	20	4	516	4	PTAR1	9	72338485	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	206722	72338485	68874946	7247	10863											
SMC5	23137	broad.mit.edu	37	9	72897424	72897424	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:72897424G>A	ENST00000361138.5	+	7	964	c.906G>A	c.(904-906)ggG>ggA	p.G302G		NM_015110.3	NP_055925.2	Q8IY18	SMC5_HUMAN	structural maintenance of chromosomes 5	302					DNA recombination|DNA repair	chromosome|nucleus	ATP binding			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(4)	35						TTAAAGAAGGGCAGATTCCTG	0.368													36	40					0	0	1	0	0	A	72897424	G	A	72897424	2	1	81	1	0	0	0	0	0	0	0	1	14840	1190	42	2		2	SMC5	9	72897424	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	558939	72897424	68316007	7248	10864											
SMC5	23137	broad.mit.edu	37	9	72962005	72962006	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:72962005_72962006insT	ENST00000361138.5	+	20	2650_2651	c.2592_2593insT	c.(2593-2595)ttgfs	p.L865fs	SMC5_ENST00000471372.1_3'UTR	NM_015110.3	NP_055925.2	Q8IY18	SMC5_HUMAN	structural maintenance of chromosomes 5	865					DNA recombination|DNA repair	chromosome|nucleus	ATP binding			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(4)	35						TTCCAAACACATTGGATGAAAT	0.356													7	50	---	---	---	---						T	72962006	-	T	72962005	7	5	81	1	0	1	1	0	0	0	0	0	14840	204	8	0	2670	0	SMC5	9	72962005	Frame_Shift_Ins	INS	-	TCGA-DU-6392-01A-11D-1705-08	64581	72962005	68251426	7249	10865											
SMC5	23137	broad.mit.edu	37	9	72967143	72967143	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:72967143G>A	ENST00000361138.5	+	25	3260	c.3202G>A	c.(3202-3204)Gtt>Att	p.V1068I	SMC5_ENST00000471372.1_3'UTR	NM_015110.3	NP_055925.2	Q8IY18	SMC5_HUMAN	structural maintenance of chromosomes 5	1068					DNA recombination|DNA repair	chromosome|nucleus	ATP binding			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(4)	35						AAAGATGACAGTTTTGTTTGT	0.378													41	61					0	0	1	0	0	A	72967143	G	A	72967143	3	1	81	1	0	0	0	0	1	0	0	0	14840	1029	36	2	3300	2	SMC5	9	72967143	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	5138	72967143	68246288	7250	10866											
TRPM3	80036	broad.mit.edu	37	9	73426150	73426150	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:73426150C>T	ENST00000377106.1	-	7	879	c.525G>A	c.(523-525)ccG>ccA	p.P175P	TRPM3_ENST00000396280.5_Intron|TRPM3_ENST00000396285.1_Intron|TRPM3_ENST00000377110.3_Intron|TRPM3_ENST00000377101.1_Intron|TRPM3_ENST00000358082.3_Silent_p.P175P|TRPM3_ENST00000423814.3_Silent_p.P330P|TRPM3_ENST00000396292.4_Silent_p.P175P|TRPM3_ENST00000361823.5_Intron|TRPM3_ENST00000357533.2_Intron|TRPM3_ENST00000396283.1_Silent_p.P175P|TRPM3_ENST00000377111.2_Intron|TRPM3_ENST00000377105.1_Intron|TRPM3_ENST00000408909.2_Intron|TRPM3_ENST00000360823.2_Silent_p.P175P	NM_020952.4|NM_206946.3	NP_066003.3|NP_996829.3	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	328						integral to membrane	calcium channel activity			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						GAGAGAAAAACGGCAGGCATC	0.338													5	11					0	0	1	0	0	T	73426150	C	T	73426150	2	4	81	1	0	0	0	0	0	0	0	1	16648	523	19	1		1	TRPM3	9	73426150	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	459007	73426150	67787281	7251	10867											
TRPM3	80036	broad.mit.edu	37	9	73461449	73461449	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:73461449T>C	ENST00000377110.3	-	4	764	c.521A>G	c.(520-522)gAa>gGa	p.E174G	TRPM3_ENST00000396280.5_Missense_Mutation_p.E21G|TRPM3_ENST00000396285.1_Missense_Mutation_p.E21G|TRPM3_ENST00000377101.1_Missense_Mutation_p.E21G|TRPM3_ENST00000358082.3_Missense_Mutation_p.E21G|TRPM3_ENST00000423814.3_Missense_Mutation_p.E176G|TRPM3_ENST00000396292.4_Missense_Mutation_p.E21G|TRPM3_ENST00000361823.5_Missense_Mutation_p.E21G|TRPM3_ENST00000357533.2_Missense_Mutation_p.E176G|TRPM3_ENST00000396283.1_Missense_Mutation_p.E21G|TRPM3_ENST00000377097.3_Missense_Mutation_p.E21G|TRPM3_ENST00000377106.1_Missense_Mutation_p.E21G|TRPM3_ENST00000377111.2_Missense_Mutation_p.E174G|TRPM3_ENST00000377105.1_Missense_Mutation_p.E21G|TRPM3_ENST00000408909.2_Missense_Mutation_p.E21G|TRPM3_ENST00000360823.2_Missense_Mutation_p.E21G			Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3							integral to membrane	calcium channel activity			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						CAACTGCCATTCCTTGGTCAT	0.478													9	79					0	0	1	0	0	C	73461449	T	C	73461449	3	2	81	1	0	0	0	0	1	0	0	0	16648	1783	62	3	4813	3	TRPM3	9	73461449	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	35299	73461449	67751982	7252	10868											
TMEM2	23670	broad.mit.edu	37	9	74300191	74300191	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:74300191G>A	ENST00000377044.4	-	24	4613	c.4074C>T	c.(4072-4074)gaC>gaT	p.D1358D	TMEM2_ENST00000377066.5_Silent_p.D1295D|TMEM2_ENST00000396272.3_Silent_p.D351D	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2	1358						integral to membrane				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		AACCATATTCGTCCAGCTGCA	0.463													38	51					0	0	1	0	0	A	74300191	G	A	74300191	2	1	81	1	0	0	0	0	0	0	0	1	16181	1136	40	1		1	TMEM2	9	74300191	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	838742	74300191	66913240	7253	10869											
TMEM2	23670	broad.mit.edu	37	9	74345048	74345048	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:74345048G>A	ENST00000377044.4	-	9	2434	c.1895C>T	c.(1894-1896)cCc>cTc	p.P632L	TMEM2_ENST00000377066.5_Missense_Mutation_p.P569L	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2	632						integral to membrane				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		CCTATCGGTGGGCAGGAGAGT	0.458													21	58					0	0	1	0	0	A	74345048	G	A	74345048	3	1	81	1	0	0	0	0	1	0	0	0	16181	1232	43	2	2320	2	TMEM2	9	74345048	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	44857	74345048	66868383	7254	10870											
TMEM2	23670	broad.mit.edu	37	9	74345102	74345102	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:74345102C>A	ENST00000377044.4	-	9	2380	c.1841G>T	c.(1840-1842)aGg>aTg	p.R614M	TMEM2_ENST00000377066.5_Missense_Mutation_p.R551M	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2	614						integral to membrane				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		CAAAGTATTCCTCTGTTCAAT	0.423													7	53					8.12818e-05	8.94031e-05	1	1	0	A	74345102	C	A	74345102	3	1	81	1	0	0	0	0	1	0	0	0	16181	681	24	4	2374	4	TMEM2	9	74345102	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	54	74345102	66868329	7255	10871											
TMEM2	23670	broad.mit.edu	37	9	74361227	74361227	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:74361227C>A	ENST00000377044.4	-	3	901	c.362G>T	c.(361-363)aGg>aTg	p.R121M	TMEM2_ENST00000377066.5_Missense_Mutation_p.R121M	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2	121	G8.					integral to membrane				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		ATCCCAATTCCTGAGACGAGG	0.418													31	43					1.21669e-08	1.4531e-08	1	1	0	A	74361227	C	A	74361227	3	1	81	1	0	0	0	0	1	0	0	0	16181	681	24	4	3877	4	TMEM2	9	74361227	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	16125	74361227	66852204	7256	10872											
TRPM6	140803	broad.mit.edu	37	9	77365589	77365589	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:77365589C>A	ENST00000451710.3	-	30	5285	c.5048G>T	c.(5047-5049)aGg>aTg	p.R1683M	TRPM6_ENST00000376864.4_Missense_Mutation_p.R1683M|TRPM6_ENST00000376872.3_Missense_Mutation_p.R634M|TRPM6_ENST00000361255.3_Missense_Mutation_p.R1678M|TRPM6_ENST00000360774.1_Missense_Mutation_p.R1683M|TRPM6_ENST00000449912.2_Missense_Mutation_p.R1678M|TRPM6_ENST00000376871.3_Missense_Mutation_p.R516M			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1683					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						CAGGGAGTTCCTATTGAGGTT	0.418													31	50					3.90053e-15	4.97134e-15	1	1	0	A	77365589	C	A	77365589	3	1	81	1	0	0	0	0	1	0	0	0	16651	681	24	4	1060	4	TRPM6	9	77365589	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3004362	77365589	63847842	7257	10873											
TRPM6	140803	broad.mit.edu	37	9	77377064	77377064	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:77377064T>C	ENST00000451710.3	-	26	4760	c.4523A>G	c.(4522-4524)cAg>cGg	p.Q1508R	TRPM6_ENST00000376864.4_Missense_Mutation_p.Q1508R|TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000361255.3_Missense_Mutation_p.Q1503R|TRPM6_ENST00000360774.1_Missense_Mutation_p.Q1508R|TRPM6_ENST00000449912.2_Missense_Mutation_p.Q1503R|TRPM6_ENST00000376871.3_Intron			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1508					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						TTCACTACTCTGGGCCGATCT	0.527													8	73					0	0	1	0	0	C	77377064	T	C	77377064	3	2	81	1	0	0	0	0	1	0	0	0	16651	1580	55	3	1601	3	TRPM6	9	77377064	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	11475	77377064	63836367	7258	10874											
TRPM6	140803	broad.mit.edu	37	9	77386687	77386687	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:77386687delT	ENST00000451710.3	-	25	3705	c.3468delA	c.(3466-3468)aaafs	p.K1156fs	TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000376864.4_Frame_Shift_Del_p.K1156fs|TRPM6_ENST00000360774.1_Frame_Shift_Del_p.K1156fs|TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000361255.3_Frame_Shift_Del_p.K1151fs|TRPM6_ENST00000449912.2_Frame_Shift_Del_p.K1151fs			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1156					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						CATGGAAGTATTTTTCCACGC	0.353													14	81	---	---	---	---						-	77386687	T	-	77386687	7	5	81	1	0	1	0	1	0	0	0	0	16651	1490	52	0	2660	0	TRPM6	9	77386687	Frame_Shift_Del	DEL	T	TCGA-DU-6392-01A-11D-1705-08	9623	77386687	63826744	7259	10875											
TRPM6	140803	broad.mit.edu	37	9	77400893	77400893	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:77400893C>A	ENST00000451710.3	-	21	3053	c.2816G>T	c.(2815-2817)aGa>aTa	p.R939I	TRPM6_ENST00000376864.4_Missense_Mutation_p.R939I|TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000361255.3_Missense_Mutation_p.R934I|TRPM6_ENST00000360774.1_Missense_Mutation_p.R939I|TRPM6_ENST00000449912.2_Missense_Mutation_p.R934I|TRPM6_ENST00000376871.3_Intron			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	939					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						GTAGATCAGTCTTCCCGCTGT	0.468													23	142					1.50039e-11	1.86073e-11	1	1	0	A	77400893	C	A	77400893	3	1	81	1	0	0	0	0	1	0	0	0	16651	913	32	4	3328	4	TRPM6	9	77400893	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	14206	77400893	63812538	7260	10876											
TRPM6	140803	broad.mit.edu	37	9	77457137	77457137	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:77457137G>A	ENST00000451710.3	-	4	512	c.275C>T	c.(274-276)aCa>aTa	p.T92I	TRPM6_ENST00000376864.4_Missense_Mutation_p.T92I|TRPM6_ENST00000376872.3_Missense_Mutation_p.T92I|TRPM6_ENST00000361255.3_Missense_Mutation_p.T87I|TRPM6_ENST00000360774.1_Missense_Mutation_p.T92I|TRPM6_ENST00000359047.2_Missense_Mutation_p.T92I|TRPM6_ENST00000449912.2_Missense_Mutation_p.T87I|TRPM6_ENST00000376871.3_Missense_Mutation_p.T92I			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	92					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						AAAAGTATCTGTTGGGCTTTT	0.418													10	101					0	0	1	0	0	A	77457137	G	A	77457137	3	1	81	1	0	0	0	0	1	0	0	0	16651	1377	48	2	5937	2	TRPM6	9	77457137	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	56244	77457137	63756294	7261	10877											
PCSK5	5125	broad.mit.edu	37	9	78601108	78601108	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:78601108C>T	ENST00000545128.1	+	3	896	c.358C>T	c.(358-360)Cgt>Tgt	p.R120C	PCSK5_ENST00000376767.3_Missense_Mutation_p.R120C|PCSK5_ENST00000376752.4_Missense_Mutation_p.R120C	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	120	Catalytic.				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						TGACTTCAGTCGTGCCCAGTC	0.473													19	35					0	0	1	0	0	T	78601108	C	T	78601108	3	4	81	1	0	0	0	0	1	0	0	0	11650	884	31	1	368	1	PCSK5	9	78601108	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1143971	78601108	62612323	7262	10878											
PCSK5	5125	broad.mit.edu	37	9	78638728	78638728	+	Silent	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:78638728A>C	ENST00000545128.1	+	4	1024	c.486A>C	c.(484-486)ggA>ggC	p.G162G	PCSK5_ENST00000376767.3_Silent_p.G162G|PCSK5_ENST00000376752.4_Silent_p.G162G	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	162	Catalytic.				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						GCTACACGGGAAAGAACATTG	0.473													5	69					0	0	1	0	0	C	78638728	A	C	78638728	2	2	81	1	0	0	0	0	0	0	0	1	11650	233	9	5		5	PCSK5	9	78638728	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	37620	78638728	62574703	7263	10879											
PCSK5	5125	broad.mit.edu	37	9	78710934	78710934	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:78710934C>T	ENST00000545128.1	+	8	1561	c.1023C>T	c.(1021-1023)agC>agT	p.S341S	PCSK5_ENST00000376752.4_Silent_p.S341S|PCSK5_ENST00000376767.3_Silent_p.S341S	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	341	Catalytic.				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						CTGCAGAAAGCGGAAAGAAAC	0.512													17	32					0	0	1	0	0	T	78710934	C	T	78710934	2	4	81	1	0	0	0	0	0	0	0	1	11650	767	27	1		1	PCSK5	9	78710934	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	72206	78710934	62502497	7264	10880											
PCSK5	5125	broad.mit.edu	37	9	78808156	78808156	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:78808156C>T	ENST00000376752.4	+	21	3107	c.2630C>T	c.(2629-2631)aCg>aTg	p.T877M	PCSK5_ENST00000545128.1_Intron	NM_006200.3	NP_006191.2	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	877	PLAC.				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						GGAAAAGCAACGGAAGAGTCC	0.473													10	22					0	0	1	0	0	T	78808156	C	T	78808156	3	4	81	1	0	0	0	0	1	0	0	0	11650	536	19	1	2712	1	PCSK5	9	78808156	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	97222	78808156	62405275	7265	10881											
PCSK5	5125	broad.mit.edu	37	9	78923581	78923581	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:78923581C>A	ENST00000545128.1	+	28	4082	c.3544C>A	c.(3544-3546)Cct>Act	p.P1182T		NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	901					anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						AAAACTCCAGCCTTGTCATTC	0.423													11	16					2.80697e-09	3.37799e-09	1	1	0	A	78923581	C	A	78923581	3	1	81	1	0	0	0	0	1	0	0	0	11650	754	26	5		5	PCSK5	9	78923581	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	115425	78923581	62289850	7266	10882											
PCSK5	5125	broad.mit.edu	37	9	78973785	78973785	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:78973785G>A	ENST00000545128.1	+	37	6068	c.5530G>A	c.(5530-5532)Gat>Aat	p.D1844N		NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	0					anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						GCTGGATGACGATGACATAGA	0.493													14	40					0	0	1	0	0	A	78973785	G	A	78973785	3	1	81	1	0	0	0	0	1	0	0	0	11650	1073	37	1		1	PCSK5	9	78973785	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	50204	78973785	62239646	7267	10883											
PRUNE2	158471	broad.mit.edu	37	9	79321301	79321301	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:79321301C>A	ENST00000428286.1	-	8	6012	c.4812G>T	c.(4810-4812)atG>atT	p.M1604I	PRUNE2_ENST00000376718.3_Missense_Mutation_p.M1963I			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	1963					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						AGACTGGCAGCATGGTGTCCT	0.438													9	99					0.0692343	0.0705186	1	1	0	A	79321301	C	A	79321301	3	1	81	1	0	0	0	0	1	0	0	0	12690	710	25	5	3425	5	PRUNE2	9	79321301	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	347516	79321301	61892130	7268	10884											
PRUNE2	158471	broad.mit.edu	37	9	79324162	79324162	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:79324162T>G	ENST00000428286.1	-	8	3151	c.1951A>C	c.(1951-1953)Att>Ctt	p.I651L	PRUNE2_ENST00000376718.3_Missense_Mutation_p.I1010L			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	1010					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						TGAGGAGGAATGTCAGTCTCC	0.453													12	29					0	0	1	0	0	G	79324162	T	G	79324162	3	3	81	1	0	0	0	0	1	0	0	0	12690	1464	51	4	6286	4	PRUNE2	9	79324162	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	2861	79324162	61889269	7269	10885											
VPS13A	23230	broad.mit.edu	37	9	79952386	79952386	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:79952386T>C	ENST00000360280.3	+	47	6571	c.6311T>C	c.(6310-6312)aTa>aCa	p.I2104T	VPS13A_ENST00000376636.3_Missense_Mutation_p.I2065T|VPS13A_ENST00000376634.4_Missense_Mutation_p.I2104T|VPS13A_ENST00000357409.5_Missense_Mutation_p.I2104T	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	2104					Golgi to endosome transport|protein transport	intracellular	protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						TTACCATACATAATGCATTTG	0.348													32	58					0	0	1	0	0	C	79952386	T	C	79952386	3	2	81	1	0	0	0	0	1	0	0	0	17249	1406	49	3	6497	3	VPS13A	9	79952386	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	628224	79952386	61261045	7270	10886											
VPS13A	23230	broad.mit.edu	37	9	79954682	79954682	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:79954682C>T	ENST00000360280.3	+	48	6889	c.6629C>T	c.(6628-6630)gCa>gTa	p.A2210V	VPS13A_ENST00000376636.3_Missense_Mutation_p.A2171V|VPS13A_ENST00000376634.4_Missense_Mutation_p.A2210V|VPS13A_ENST00000357409.5_Missense_Mutation_p.A2210V	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	2210					Golgi to endosome transport|protein transport	intracellular	protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						ACAGTTGTGGCATTTCATAGT	0.368													39	87					0	0	1	0	0	T	79954682	C	T	79954682	3	4	81	1	0	0	0	0	1	0	0	0	17249	710	25	2	6819	2	VPS13A	9	79954682	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2296	79954682	61258749	7271	10887											
VPS13A	23230	broad.mit.edu	37	9	79955198	79955198	+	Splice_Site	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:79955198A>G	ENST00000360280.3	+	49	7139	c.6879A>G	c.(6877-6879)caA>caG	p.Q2293Q	VPS13A_ENST00000376636.3_Splice_Site_p.Q2254Q|VPS13A_ENST00000376634.4_Splice_Site_p.Q2293Q|VPS13A_ENST00000357409.5_Splice_Site_p.Q2293Q	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	2293					Golgi to endosome transport|protein transport	intracellular	protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						TGGACTATCAAGTGAGTTCAT	0.284													5	105					0	0	1	0	0	G	79955198	A	G	79955198	5	3	81	1	0	0	0	0	0	0	1	0	17249	86	3	3	7073	3	VPS13A	9	79955198	Splice_Site	SNP	A	TCGA-DU-6392-01A-11D-1705-08	516	79955198	61258233	7272	10888											
GNA14	9630	broad.mit.edu	37	9	80040524	80040524	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:80040524C>A	ENST00000341700.6	-	6	1344	c.831G>T	c.(829-831)gaG>gaT	p.E277D	GNA14_ENST00000464095.1_5'UTR	NM_004297.3	NP_004288.1	O95837	GNA14_HUMAN	guanine nucleotide binding protein (G protein), alpha 14	277					activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			endometrium(3)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	24						ACATGATTTTCTCTTCCAAAA	0.403													35	39					1.22384e-17	1.58083e-17	1	1	0	A	80040524	C	A	80040524	3	1	81	1	0	0	0	0	1	0	0	0	6544	912	32	4	244	4	GNA14	9	80040524	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	85326	80040524	61172907	7273	10889											
CEP78	84131	broad.mit.edu	37	9	80866931	80866931	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:80866931C>T	ENST00000424347.2	+	9	1466	c.1177C>T	c.(1177-1179)Cgt>Tgt	p.R393C	CEP78_ENST00000376597.4_Missense_Mutation_p.R394C|CEP78_ENST00000415759.2_Missense_Mutation_p.R394C|CEP78_ENST00000277082.5_Missense_Mutation_p.R393C|CEP78_ENST00000376598.2_Missense_Mutation_p.R393C			Q5JTW2	CEP78_HUMAN	centrosomal protein 78kDa	393					G2/M transition of mitotic cell cycle	centrosome|cytosol				breast(1)|cervix(1)|endometrium(5)|large_intestine(7)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	21						CTTGCCGTGGCGTACTGCAGA	0.403													4	17					0	0	1	0	0	T	80866931	C	T	80866931	3	4	81	1	0	0	0	0	1	0	0	0	3284	768	27	1	1214	1	CEP78	9	80866931	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	826407	80866931	60346500	7274	10890											
PSAT1	29968	broad.mit.edu	37	9	80921249	80921249	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:80921249C>A	ENST00000376588.3	+	5	485	c.417C>A	c.(415-417)acC>acA	p.T139T	PSAT1_ENST00000347159.2_Silent_p.T139T	NM_058179.2	NP_478059.1	Q9Y617	SERC_HUMAN	phosphoserine aminotransferase 1	139					L-serine biosynthetic process|pyridoxine biosynthetic process		O-phospho-L-serine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|urinary_tract(1)	20					L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)	ATCCAAGCACCTGGAACCTCA	0.463													29	259					8.58068e-18	1.1094e-17	1	1	0	A	80921249	C	A	80921249	2	1	81	1	0	0	0	0	0	0	0	1	12693	668	24	4		4	PSAT1	9	80921249	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	54318	80921249	60292182	7275	10891											
RASEF	158158	broad.mit.edu	37	9	85615413	85615413	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:85615413C>A	ENST00000376447.3	-	11	1770	c.1510G>T	c.(1510-1512)Ggg>Tgg	p.G504W		NM_152573.2	NP_689786.2	Q8IZ41	RASEF_HUMAN	RAS and EF-hand domain containing	504					protein transport|small GTPase mediated signal transduction	perinuclear region of cytoplasm	calcium ion binding|GTP binding			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(4)|liver(1)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						CTAACAGACCCTTGGGGCTTC	0.448													14	33					6.31663e-08	7.44777e-08	1	1	0	A	85615413	C	A	85615413	3	1	81	1	0	0	0	0	1	0	0	0	13120	681	24	4	740	4	RASEF	9	85615413	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	4694164	85615413	55598018	7276	10892											
RASEF	158158	broad.mit.edu	37	9	85640766	85640766	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:85640766G>A	ENST00000376447.3	-	2	762	c.502C>T	c.(502-504)Cat>Tat	p.H168Y		NM_152573.2	NP_689786.2	Q8IZ41	RASEF_HUMAN	RAS and EF-hand domain containing	168					protein transport|small GTPase mediated signal transduction	perinuclear region of cytoplasm	calcium ion binding|GTP binding			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(4)|liver(1)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						TTTATAACATGTTCATATGGC	0.358													12	166					0	0	1	0	0	A	85640766	G	A	85640766	3	1	81	1	0	0	0	0	1	0	0	0	13120	1377	48	2	1784	2	RASEF	9	85640766	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	25353	85640766	55572665	7277	10893											
UBQLN1	29979	broad.mit.edu	37	9	86297963	86297963	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:86297963A>G	ENST00000376395.4	-	3	874	c.351T>C	c.(349-351)gcT>gcC	p.A117A	UBQLN1_ENST00000257468.7_Silent_p.A117A	NM_013438.4|NM_053067.2	NP_038466.2|NP_444295.1	Q9UMX0	UBQL1_HUMAN	ubiquilin 1	117					apoptosis|regulation of protein ubiquitination|response to hypoxia	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm|proteasome complex	kinase binding			breast(4)|endometrium(2)|kidney(4)|large_intestine(6)|lung(10)|prostate(1)	27						TTGTTTGCTGAGCTGAATGAT	0.408													6	74					0	0	1	0	0	G	86297963	A	G	86297963	2	3	81	1	0	0	0	0	0	0	0	1	16957	291	11	3		3	UBQLN1	9	86297963	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	657197	86297963	54915468	7278	10894											
GKAP1	80318	broad.mit.edu	37	9	86399660	86399660	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:86399660T>C	ENST00000376371.2	-	6	932	c.532A>G	c.(532-534)Aca>Gca	p.T178A	GKAP1_ENST00000376365.3_Missense_Mutation_p.T178A	NM_025211.3	NP_079487.2	Q5VSY0	GKAP1_HUMAN	G kinase anchoring protein 1	178					signal transduction	Golgi apparatus				endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)	14						AGTGATACTGTGAGAGGTCTG	0.299													13	139					0	0	1	0	0	C	86399660	T	C	86399660	3	2	81	1	0	0	0	0	1	0	0	0	6465	1696	59	3	600	3	GKAP1	9	86399660	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	101697	86399660	54813771	7279	10895											
KIF27	55582	broad.mit.edu	37	9	86518586	86518586	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:86518586C>T	ENST00000297814.2	-	4	990	c.847G>A	c.(847-849)Gac>Aac	p.D283N	KIF27_ENST00000413982.1_Missense_Mutation_p.D283N|KIF27_ENST00000334204.2_Missense_Mutation_p.D283N	NM_017576.1	NP_060046.1	Q86VH2	KIF27_HUMAN	kinesin family member 27	283					cilium assembly|microtubule-based movement	cilium|cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						CTGCGTGGGTCCCCAAGAGCG	0.438													25	34					0	0	1	0	0	T	86518586	C	T	86518586	3	4	81	1	0	0	0	0	1	0	0	0	8338	855	30	2	3418	2	KIF27	9	86518586	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	118926	86518586	54694845	7280	10896											
KIF27	55582	broad.mit.edu	37	9	86523414	86523414	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:86523414G>A	ENST00000297814.2	-	3	595	c.452C>T	c.(451-453)aCa>aTa	p.T151I	KIF27_ENST00000413982.1_Missense_Mutation_p.T151I|KIF27_ENST00000334204.2_Missense_Mutation_p.T151I	NM_017576.1	NP_060046.1	Q86VH2	KIF27_HUMAN	kinesin family member 27	151	Kinesin-motor.				cilium assembly|microtubule-based movement	cilium|cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						CTTCATGGATGTCTCCAATTC	0.358													52	79					0	0	1	0	0	A	86523414	G	A	86523414	3	1	81	1	0	0	0	0	1	0	0	0	8338	1377	48	2	3817	2	KIF27	9	86523414	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	4828	86523414	54690017	7281	10897											
HNRNPK	3190	broad.mit.edu	37	9	86592687	86592687	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:86592687C>T	ENST00000376263.3	-	4	296	c.73G>A	c.(73-75)Gaa>Aaa	p.E25K	HNRNPK_ENST00000351839.3_Missense_Mutation_p.E25K|HNRNPK_ENST00000376281.4_Missense_Mutation_p.E25K|HNRNPK_ENST00000376264.2_Missense_Mutation_p.E25K|HNRNPK_ENST00000360384.5_Missense_Mutation_p.E25K	NM_031263.2	NP_112553.1	P61978	HNRPK_HUMAN	heterogeneous nuclear ribonucleoprotein K	25	Necessary for interaction with DDX1.				interspecies interaction between organisms|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of receptor-mediated endocytosis|regulation of lipid transport by positive regulation of transcription from an RNA polymerase II promoter|regulation of low-density lipoprotein particle clearance|signal transduction	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nuclear chromatin|nucleoplasm	protein binding|RNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|single-stranded DNA binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|stomach(1)	19						TCCATATCTTCTGCAGGGCGT	0.358													3	51					0	0	1	0	0	T	86592687	C	T	86592687	3	4	81	1	0	0	0	0	1	0	0	0	7310	922	32	2	1412	2	HNRNPK	9	86592687	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	69273	86592687	54620744	7282	10898											
RMI1	80010	broad.mit.edu	37	9	86616977	86616977	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:86616977C>T	ENST00000325875.3	+	3	1408	c.1076C>T	c.(1075-1077)aCg>aTg	p.T359M		NM_024945.2	NP_079221.2	Q9H9A7	RMI1_HUMAN	RecQ mediated genome instability 1	359					DNA replication	nucleus				biliary_tract(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18						CCTAATACTACGAATAACTTT	0.323													31	34					0	0	1	0	0	T	86616977	C	T	86616977	3	4	81	1	0	0	0	0	1	0	0	0	13447	536	19	1	1078	1	RMI1	9	86616977	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	24290	86616977	54596454	7283	10899											
SLC28A3	64078	broad.mit.edu	37	9	86917129	86917129	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:86917129C>A	ENST00000376238.4	-	5	559	c.510G>T	c.(508-510)tgG>tgT	p.W170C	SLC28A3_ENST00000537648.1_Missense_Mutation_p.W101C	NM_001199633.1|NM_022127.2	NP_001186562.1|NP_071410.1	Q9HAS3	S28A3_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 3	170					nucleobase, nucleoside and nucleotide metabolic process	integral to membrane|plasma membrane	nucleoside binding			endometrium(2)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						TCAGCCAGAACCAATGGCTGT	0.413													11	65					4.3838e-07	5.09097e-07	1	1	0	A	86917129	C	A	86917129	3	1	81	1	0	0	0	0	1	0	0	0	14588	508	18	5	1621	5	SLC28A3	9	86917129	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	300152	86917129	54296302	7284	10900											
NTRK2	4915	broad.mit.edu	37	9	87342789	87342789	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:87342789C>T	ENST00000304053.6	+	9	1557	c.1074C>T	c.(1072-1074)gaC>gaT	p.D358D	NTRK2_ENST00000376214.1_Silent_p.D358D|NTRK2_ENST00000376213.1_Silent_p.D358D|NTRK2_ENST00000395866.2_Silent_p.D202D|NTRK2_ENST00000323115.4_Silent_p.D358D|NTRK2_ENST00000359847.3_Silent_p.D358D|NTRK2_ENST00000277120.3_Silent_p.D358D|NTRK2_ENST00000376208.1_Silent_p.D358D|NTRK2_ENST00000395882.1_Silent_p.D358D	NM_001018065.2	NP_001018075.1	Q16620	NTRK2_HUMAN	neurotrophic tyrosine kinase, receptor, type 2	358	Ig-like C2-type 2.				activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development	integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein tyrosine kinase activity			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	46						ACAATGGGGACTACACTCTAA	0.453										TSP Lung(25;0.17)			21	50					0	0	1	0	0	T	87342789	C	T	87342789	2	4	81	1	0	0	0	0	0	0	0	1	10755	564	20	2		2	NTRK2	9	87342789	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	425660	87342789	53870642	7285	10901											
NTRK2	4915	broad.mit.edu	37	9	87635123	87635123	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:87635123C>T	ENST00000376214.1	+	20	3113	c.2175C>T	c.(2173-2175)gtC>gtT	p.V725V	NTRK2_ENST00000376213.1_Silent_p.V709V|NTRK2_ENST00000323115.4_Silent_p.V709V|NTRK2_ENST00000277120.3_Silent_p.V725V	NM_006180.3	NP_006171.2	Q16620	NTRK2_HUMAN	neurotrophic tyrosine kinase, receptor, type 2	709	Protein kinase.				activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development	integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein tyrosine kinase activity			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	46						CTCCCCAGGTCGGTGGCCACA	0.567										TSP Lung(25;0.17)			39	50					0	0	1	0	0	T	87635123	C	T	87635123	2	4	81	1	0	0	0	0	0	0	0	1	10755	871	31	1		1	NTRK2	9	87635123	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	292334	87635123	53578308	7286	10902											
AGTPBP1	23287	broad.mit.edu	37	9	88248234	88248234	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:88248234C>T	ENST00000357081.3	-	14	1502	c.1358G>A	c.(1357-1359)cGt>cAt	p.R453H	AGTPBP1_ENST00000376109.3_Missense_Mutation_p.R465H|AGTPBP1_ENST00000376083.3_Missense_Mutation_p.R413H|AGTPBP1_ENST00000337006.4_3'UTR|AGTPBP1_ENST00000432218.1_Missense_Mutation_p.R291H			Q9UPW5	CBPC1_HUMAN	ATP/GTP binding protein 1	453					C-terminal protein deglutamylation|cerebellar Purkinje cell differentiation|eye photoreceptor cell differentiation|mitochondrion organization|neuromuscular process|olfactory bulb development|protein side chain deglutamylation|proteolysis	cytosol|mitochondrion|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(12)|ovary(5)|skin(2)|urinary_tract(3)	44						AATAGGACCACGTACTTTTCC	0.333													32	74					0	0	1	0	0	T	88248234	C	T	88248234	3	4	81	1	0	0	0	0	1	0	0	0	397	536	19	1	2374	1	AGTPBP1	9	88248234	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	613111	88248234	52965197	7287	10903											
NAA35	60560	broad.mit.edu	37	9	88576971	88576971	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:88576971C>T	ENST00000361671.5	+	6	525	c.392C>T	c.(391-393)aCg>aTg	p.T131M	NAA35_ENST00000376040.1_Missense_Mutation_p.T131M	NM_024635.3	NP_078911.3	Q5VZE5	NAA35_HUMAN	N(alpha)-acetyltransferase 35, NatC auxiliary subunit	131					smooth muscle cell proliferation	cytoplasm|nucleus|plasma membrane		p.T131M(1)		central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(9)|ovary(2)|skin(2)|urinary_tract(1)	25						ACAGTATTTACGTGCCTTTAC	0.363													16	44					0	0	1	0	0	T	88576971	C	T	88576971	3	4	81	1	0	0	0	0	1	0	0	0	10171	536	19	1	410	1	NAA35	9	88576971	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	328737	88576971	52636460	7288	10904											
NAA35	60560	broad.mit.edu	37	9	88590033	88590033	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:88590033G>A	ENST00000361671.5	+	8	721	c.588G>A	c.(586-588)atG>atA	p.M196I	NAA35_ENST00000376040.1_Missense_Mutation_p.M196I	NM_024635.3	NP_078911.3	Q5VZE5	NAA35_HUMAN	N(alpha)-acetyltransferase 35, NatC auxiliary subunit	196					smooth muscle cell proliferation	cytoplasm|nucleus|plasma membrane				central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(9)|ovary(2)|skin(2)|urinary_tract(1)	25						TTCTAGGCATGCTAAAAGATG	0.299													7	75					0	0	1	0	0	A	88590033	G	A	88590033	3	1	81	1	0	0	0	0	1	0	0	0	10171	1319	46	2	614	2	NAA35	9	88590033	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	13062	88590033	52623398	7289	10905											
NAA35	60560	broad.mit.edu	37	9	88628649	88628649	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:88628649G>A	ENST00000361671.5	+	17	1538	c.1405G>A	c.(1405-1407)Gca>Aca	p.A469T		NM_024635.3	NP_078911.3	Q5VZE5	NAA35_HUMAN	N(alpha)-acetyltransferase 35, NatC auxiliary subunit	469					smooth muscle cell proliferation	cytoplasm|nucleus|plasma membrane				central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(9)|ovary(2)|skin(2)|urinary_tract(1)	25						GAAGGTTGATGCAGCGCTTCA	0.383													37	63					0	0	1	0	0	A	88628649	G	A	88628649	3	1	81	1	0	0	0	0	1	0	0	0	10171	1319	46	2	1467	2	NAA35	9	88628649	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	38616	88628649	52584782	7290	10906											
ZCCHC6	79670	broad.mit.edu	37	9	88940264	88940264	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:88940264G>A	ENST00000375961.2	-	12	1988	c.1774C>T	c.(1774-1776)Cgc>Tgc	p.R592C	ZCCHC6_ENST00000375963.3_Missense_Mutation_p.R592C|ZCCHC6_ENST00000375960.2_Missense_Mutation_p.R469C|ZCCHC6_ENST00000277141.6_5'UTR			Q5VYS8	TUT7_HUMAN	zinc finger, CCHC domain containing 6	592	PAP-associated 1.				RNA 3'-end processing		nucleic acid binding|RNA uridylyltransferase activity|zinc ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	46						ATGGCAATGCGCTTTTTGGGC	0.373													31	65					0	0	1	0	0	A	88940264	G	A	88940264	3	1	81	1	0	0	0	0	1	0	0	0	17650	1087	38	1	2777	1	ZCCHC6	9	88940264	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	311615	88940264	52273167	7291	10907											
DAPK1	1612	broad.mit.edu	37	9	90272950	90272950	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:90272950C>T	ENST00000469640.2	+	18	2206	c.1831C>T	c.(1831-1833)Cga>Tga	p.R611*	DAPK1_ENST00000358077.5_Nonsense_Mutation_p.R611*|DAPK1_ENST00000491893.1_Nonsense_Mutation_p.R611*|DAPK1_ENST00000408954.3_Nonsense_Mutation_p.R611*|DAPK1_ENST00000466188.1_3'UTR|DAPK1_ENST00000472284.1_Nonsense_Mutation_p.R611*			P53355	DAPK1_HUMAN	death-associated protein kinase 1	611					apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade	actin cytoskeleton|cytoplasm	ATP binding|calmodulin binding|protein serine/threonine kinase activity			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						CCAGTATGGGCGAACGCCTCT	0.567									Chronic Lymphocytic Leukemia, Familial Clustering of				9	5					0	0	1	0	0	T	90272950	C	T	90272950	4	4	81	1	0	0	0	0	0	1	0	0	4259	760	27	1	1897	1	DAPK1	9	90272950	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1332686	90272950	50940481	7292	10908											
DAPK1	1612	broad.mit.edu	37	9	90273032	90273032	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:90273032C>T	ENST00000469640.2	+	18	2288	c.1913C>T	c.(1912-1914)gCg>gTg	p.A638V	DAPK1_ENST00000358077.5_Missense_Mutation_p.A638V|DAPK1_ENST00000491893.1_Missense_Mutation_p.A638V|DAPK1_ENST00000408954.3_Missense_Mutation_p.A638V|DAPK1_ENST00000466188.1_3'UTR|DAPK1_ENST00000472284.1_Missense_Mutation_p.A638V			P53355	DAPK1_HUMAN	death-associated protein kinase 1	638					apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade	actin cytoskeleton|cytoplasm	ATP binding|calmodulin binding|protein serine/threonine kinase activity			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						AGCGTTGAGGCGCTGACCACG	0.627									Chronic Lymphocytic Leukemia, Familial Clustering of				4	4					0	0	1	0	0	T	90273032	C	T	90273032	3	4	81	1	0	0	0	0	1	0	0	0	4259	768	27	1	1979	1	DAPK1	9	90273032	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	82	90273032	50940399	7293	10909											
DAPK1	1612	broad.mit.edu	37	9	90313593	90313593	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:90313593C>T	ENST00000469640.2	+	23	3009	c.2634C>T	c.(2632-2634)aaC>aaT	p.N878N	DAPK1_ENST00000358077.5_Silent_p.N878N|DAPK1_ENST00000491893.1_Silent_p.N812N|DAPK1_ENST00000408954.3_Silent_p.N878N|DAPK1_ENST00000472284.1_Silent_p.N878N			P53355	DAPK1_HUMAN	death-associated protein kinase 1	878					apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade	actin cytoskeleton|cytoplasm	ATP binding|calmodulin binding|protein serine/threonine kinase activity			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						AGCTGAAGAACCCACTCCAAG	0.597									Chronic Lymphocytic Leukemia, Familial Clustering of				12	45					0	0	1	0	0	T	90313593	C	T	90313593	2	4	81	1	0	0	0	0	0	0	0	1	4259	506	18	2		2	DAPK1	9	90313593	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	40561	90313593	50899838	7294	10910											
DAPK1	1612	broad.mit.edu	37	9	90315107	90315107	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:90315107G>T	ENST00000469640.2	+	24	3201	c.2826G>T	c.(2824-2826)aaG>aaT	p.K942N	DAPK1_ENST00000358077.5_Missense_Mutation_p.K942N|DAPK1_ENST00000491893.1_Missense_Mutation_p.K876N|DAPK1_ENST00000408954.3_Missense_Mutation_p.K942N|DAPK1_ENST00000472284.1_Missense_Mutation_p.K942N			P53355	DAPK1_HUMAN	death-associated protein kinase 1	942					apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade	actin cytoskeleton|cytoplasm	ATP binding|calmodulin binding|protein serine/threonine kinase activity			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						AGGACATGAAGGTACTTCGAA	0.463									Chronic Lymphocytic Leukemia, Familial Clustering of				35	81					4.3181e-19	5.61734e-19	1	1	0	T	90315107	G	T	90315107	3	4	81	1	0	0	0	0	1	0	0	0	4259	991	35	4	2916	4	DAPK1	9	90315107	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1514	90315107	50898324	7295	10911											
CDK20	23552	broad.mit.edu	37	9	90586220	90586220	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:90586220C>T	ENST00000375883.3	-	3	526	c.220G>A	c.(220-222)Ggt>Agt	p.G74S	CDK20_ENST00000336654.5_Missense_Mutation_p.G87S|CDK20_ENST00000375871.4_Missense_Mutation_p.G74S|CDK20_ENST00000605159.1_Missense_Mutation_p.G74S|CDK20_ENST00000325303.8_Missense_Mutation_p.G74S	NM_001170639.1|NM_012119.4|NM_178432.3	NP_001164110.1|NP_036251.2|NP_848519.1	Q8IZL9	CDK20_HUMAN	cyclin-dependent kinase 20	74	Protein kinase.				cell division|multicellular organismal development	cilium|mitochondrion|nucleus	ATP binding|cyclin-dependent protein kinase activity			skin(1)	1						AAGCCTCCACCGTGTGGGAAC	0.592													7	15					0	0	1	0	0	T	90586220	C	T	90586220	3	4	81	1	0	0	0	0	1	0	0	0	3159	652	23	1	844	1	CDK20	9	90586220	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	271113	90586220	50627211	7296	10912											
SPIN1	10927	broad.mit.edu	37	9	91077536	91077536	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:91077536T>C	ENST00000375859.3	+	4	505	c.227T>C	c.(226-228)gTt>gCt	p.V76A	SPIN1_ENST00000469017.2_3'UTR|SPIN1_ENST00000541629.1_Missense_Mutation_p.V76A	NM_006717.2	NP_006708.2	Q9Y657	SPIN1_HUMAN	spindlin 1	76					cell cycle|gamete generation|multicellular organismal development	nucleus	methylated histone residue binding			endometrium(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	4						AAAGGAACCGTTCTGGACCAG	0.458													3	40					0	0	1	0	0	C	91077536	T	C	91077536	3	2	81	1	0	0	0	0	1	0	0	0	15108	1725	60	3	237	3	SPIN1	9	91077536	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	491316	91077536	50135895	7297	10913											
SPIN1	10927	broad.mit.edu	37	9	91083495	91083495	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:91083495C>T	ENST00000375859.3	+	5	842	c.564C>T	c.(562-564)ggC>ggT	p.G188G	SPIN1_ENST00000469017.2_3'UTR|SPIN1_ENST00000541629.1_Silent_p.G188G	NM_006717.2	NP_006708.2	Q9Y657	SPIN1_HUMAN	spindlin 1	188					cell cycle|gamete generation|multicellular organismal development	nucleus	methylated histone residue binding			endometrium(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	4						ACAAAGAAGGCGACCTTCGCA	0.378													36	48					0	0	1	0	0	T	91083495	C	T	91083495	2	4	81	1	0	0	0	0	0	0	0	1	15108	755	27	1		1	SPIN1	9	91083495	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	5959	91083495	50129936	7298	10914											
S1PR3	1903	broad.mit.edu	37	9	91616912	91616912	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:91616912A>G	ENST00000375846.3	+	1	5492	c.797A>G	c.(796-798)gAt>gGt	p.D266G	S1PR3_ENST00000358157.2_Missense_Mutation_p.D266G			Q99500	S1PR3_HUMAN	sphingosine-1-phosphate receptor 3	266					anatomical structure morphogenesis|elevation of cytosolic calcium ion concentration|inflammatory response|positive regulation of cell proliferation	integral to plasma membrane	lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(1)	34						TTCCTCATTGATGTGGCCTGC	0.587													7	39					0	0	1	0	0	G	91616912	A	G	91616912	3	3	81	1	0	0	0	0	1	0	0	0	13847	333	12	3	799	3	S1PR3	9	91616912	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	533417	91616912	49596519	7299	10915											
SECISBP2	79048	broad.mit.edu	37	9	91940432	91940432	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:91940432C>A	ENST00000375807.3	+	3	344	c.273C>A	c.(271-273)gcC>gcA	p.A91A	SECISBP2_ENST00000470305.1_3'UTR|SECISBP2_ENST00000534113.2_Silent_p.A23A|SECISBP2_ENST00000339901.4_Intron	NM_001282688.1|NM_001282690.1|NM_024077.3	NP_001269617.1|NP_001269619.1|NP_076982.3	Q96T21	SEBP2_HUMAN	SECIS binding protein 2	91					translation	nucleus	mRNA 3'-UTR binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(3)|skin(2)	32						ATCCATATGCCTATTCTCCTT	0.398													22	182					0.000229342	0.000250086	1	1	0	A	91940432	C	A	91940432	2	1	81	1	0	0	0	0	0	0	0	1	14060	668	24	4		4	SECISBP2	9	91940432	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	323520	91940432	49272999	7300	10916											
SECISBP2	79048	broad.mit.edu	37	9	91963028	91963028	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:91963028G>A	ENST00000375807.3	+	12	1708	c.1637G>A	c.(1636-1638)cGt>cAt	p.R546H	SECISBP2_ENST00000534113.2_Missense_Mutation_p.R478H|SECISBP2_ENST00000339901.4_Missense_Mutation_p.R473H	NM_001282688.1|NM_001282690.1|NM_024077.3	NP_001269617.1|NP_001269619.1|NP_076982.3	Q96T21	SEBP2_HUMAN	SECIS binding protein 2	546					translation	nucleus	mRNA 3'-UTR binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(3)|skin(2)	32						AGAAAGCAGCGTCTCCAAGAA	0.393													21	39					0	0	1	0	0	A	91963028	G	A	91963028	3	1	81	1	0	0	0	0	1	0	0	0	14060	1145	40	1	1683	1	SECISBP2	9	91963028	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	22596	91963028	49250403	7301	10917											
SECISBP2	79048	broad.mit.edu	37	9	91964707	91964707	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:91964707C>T	ENST00000375807.3	+	13	1826	c.1755C>T	c.(1753-1755)gaC>gaT	p.D585D	SECISBP2_ENST00000534113.2_Silent_p.D517D|SECISBP2_ENST00000339901.4_Silent_p.D512D	NM_001282688.1|NM_001282690.1|NM_024077.3	NP_001269617.1|NP_001269619.1|NP_076982.3	Q96T21	SEBP2_HUMAN	SECIS binding protein 2	585					translation	nucleus	mRNA 3'-UTR binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(3)|skin(2)	32						AGGGGATGGACGAACTGATCT	0.567													10	61					0	0	1	0	0	T	91964707	C	T	91964707	2	4	81	1	0	0	0	0	0	0	0	1	14060	535	19	1		1	SECISBP2	9	91964707	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1679	91964707	49248724	7302	10918											
SEMA4D	10507	broad.mit.edu	37	9	91978850	91978850	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:91978850C>T	ENST00000420987.1	-	18	2344	c.1898G>A	c.(1897-1899)cGc>cAc	p.R633H	SEMA4D_ENST00000420101.2_Missense_Mutation_p.R18H|SEMA4D_ENST00000343780.4_Missense_Mutation_p.R633H|SEMA4D_ENST00000469653.1_5'UTR|SEMA4D_ENST00000455551.2_Missense_Mutation_p.R633H|SEMA4D_ENST00000339861.4_Missense_Mutation_p.R633H	NM_001142287.1	NP_001135759.1	Q92854	SEM4D_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4D	0	Ig-like C2-type.				anti-apoptosis|axon guidance|cell adhesion|immune response	integral to membrane|plasma membrane	receptor activity|receptor binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(8)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34						CCAGACAAAGCGAATGTCTGC	0.597													19	30					0	0	1	0	0	T	91978850	C	T	91978850	3	4	81	1	0	0	0	0	1	0	0	0	14088	768	27	1	330	1	SEMA4D	9	91978850	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	14143	91978850	49234581	7303	10919											
SEMA4D	10507	broad.mit.edu	37	9	92003880	92003880	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:92003880C>T	ENST00000450295.1	-	10	1633	c.857G>A	c.(856-858)aGc>aAc	p.S286N	SEMA4D_ENST00000422704.2_Missense_Mutation_p.S286N|SEMA4D_ENST00000343780.4_Missense_Mutation_p.S286N|SEMA4D_ENST00000438547.2_Missense_Mutation_p.S286N|SEMA4D_ENST00000420987.1_Missense_Mutation_p.S286N|SEMA4D_ENST00000356444.2_Missense_Mutation_p.S286N|SEMA4D_ENST00000455551.2_Missense_Mutation_p.S286N|SEMA4D_ENST00000339861.4_Missense_Mutation_p.S286N			Q92854	SEM4D_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4D	286	Sema.				anti-apoptosis|axon guidance|cell adhesion|immune response	integral to membrane|plasma membrane	receptor activity|receptor binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(8)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34						GACCAAGCCGCTGTCTGGCCG	0.582													20	185					0	0	1	0	0	T	92003880	C	T	92003880	3	4	81	1	0	0	0	0	1	0	0	0	14088	797	28	2	2329	2	SEMA4D	9	92003880	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	25030	92003880	49209551	7304	10920											
NFIL3	4783	broad.mit.edu	37	9	94172307	94172307	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:94172307C>T	ENST00000297689.3	-	2	1104	c.710G>A	c.(709-711)gGc>gAc	p.G237D		NM_005384.2	NP_005375.2	Q16649	NFIL3_HUMAN	nuclear factor, interleukin 3 regulated	237					circadian rhythm|immune response|transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	16						TGTGTAAGAGCCTCGGTCATC	0.488													32	42					0	0	1	0	0	T	94172307	C	T	94172307	3	4	81	1	0	0	0	0	1	0	0	0	10420	739	26	2	682	2	NFIL3	9	94172307	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2168427	94172307	47041124	7305	10921											
NFIL3	4783	broad.mit.edu	37	9	94172623	94172623	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:94172623T>C	ENST00000297689.3	-	2	788	c.394A>G	c.(394-396)Aca>Gca	p.T132A		NM_005384.2	NP_005375.2	Q16649	NFIL3_HUMAN	nuclear factor, interleukin 3 regulated	132					circadian rhythm|immune response|transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	16						GCATATGCTGTGGAGCTAATT	0.378													45	58					0	0	1	0	0	C	94172623	T	C	94172623	3	2	81	1	0	0	0	0	1	0	0	0	10420	1696	59	3	998	3	NFIL3	9	94172623	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	316	94172623	47040808	7306	10922											
ROR2	4920	broad.mit.edu	37	9	94486137	94486137	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:94486137T>A	ENST00000375708.3	-	9	2837	c.2639A>T	c.(2638-2640)aAc>aTc	p.N880I	ROR2_ENST00000375715.1_Intron|ROR2_ENST00000550066.1_5'UTR	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	880	Ser/Thr-rich.				negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						CATGGATGTGTTGGAGGGGGC	0.652													13	78					0	0	1	0	0	A	94486137	T	A	94486137	3	1	81	1	0	0	0	0	1	0	0	0	13579	1725	60	5	196	5	ROR2	9	94486137	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	313514	94486137	46727294	7307	10923											
SPTLC1	10558	broad.mit.edu	37	9	94842325	94842325	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:94842325C>A	ENST00000262554.2	-	5	405	c.400G>T	c.(400-402)Gga>Tga	p.G134*	SPTLC1_ENST00000482632.1_5'UTR|SPTLC1_ENST00000337841.4_Nonsense_Mutation_p.G134*	NM_006415.2	NP_006406.1	O15269	SPTC1_HUMAN	serine palmitoyltransferase, long chain base subunit 1	134						integral to membrane|SPOTS complex	protein binding|pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups			breast(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	14					L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	CCTCTGGGTCCACAAGTCCCC	0.358													5	73					0.00116845	0.00124301	1	1	0	A	94842325	C	A	94842325	4	1	81	1	0	0	0	0	0	1	0	0	15179	603	21	5	1074	5	SPTLC1	9	94842325	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	356188	94842325	46371106	7308	10924											
SPTLC1	10558	broad.mit.edu	37	9	94874736	94874736	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:94874736C>T	ENST00000262554.2	-	2	171		c.e2+1		SPTLC1_ENST00000482632.1_Splice_Site|SPTLC1_ENST00000337841.4_Splice_Site	NM_006415.2	NP_006406.1	O15269	SPTC1_HUMAN	serine palmitoyltransferase, long chain base subunit 1							integral to membrane|SPOTS complex	protein binding|pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups			breast(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	14					L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	TAATTTCGTACCTTGACTGTA	0.348													15	39					0	0	1	0	0	T	94874736	C	T	94874736	5	4	81	1	0	0	0	0	0	0	1	0	15179	521	18	2	1320	2	SPTLC1	9	94874736	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	32411	94874736	46338695	7309	10925											
SPTLC1	10558	broad.mit.edu	37	9	94877622	94877622	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:94877622C>A	ENST00000262554.2	-	1	36	c.31G>T	c.(31-33)Gtg>Ttg	p.V11L	SPTLC1_ENST00000482632.1_5'UTR|SPTLC1_ENST00000337841.4_Missense_Mutation_p.V11L	NM_006415.2	NP_006406.1	O15269	SPTC1_HUMAN	serine palmitoyltransferase, long chain base subunit 1	11						integral to membrane|SPOTS complex	protein binding|pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups			breast(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	14					L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	ACCATCTCCACCAGAACCCAC	0.657													12	23					1.3612e-06	1.56842e-06	1	1	0	A	94877622	C	A	94877622	3	1	81	1	0	0	0	0	1	0	0	0	15179	507	18	5	1459	5	SPTLC1	9	94877622	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2886	94877622	46335809	7310	10926											
IARS	3376	broad.mit.edu	37	9	95033829	95033829	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:95033829C>A	ENST00000375643.3	-	11	1365	c.1099G>T	c.(1099-1101)Gga>Tga	p.G367*	IARS_ENST00000375629.3_De_novo_Start_OutOfFrame|IARS_ENST00000443024.2_Nonsense_Mutation_p.G367*|IARS_ENST00000447699.2_Nonsense_Mutation_p.G257*	NM_013417.2	NP_038203.2	P41252	SYIC_HUMAN	isoleucyl-tRNA synthetase	367					isoleucyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	ATP binding|isoleucine-tRNA ligase activity|protein binding			breast(3)|endometrium(2)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	35					L-Isoleucine(DB00167)	ACATACTGTCCTGCGAAATCT	0.418													6	78					0.00198382	0.00209725	1	1	0	A	95033829	C	A	95033829	4	1	81	1	0	0	0	0	0	1	0	0	7517	690	24	4	2785	4	IARS	9	95033829	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	156207	95033829	46179602	7311	10927											
NOL8	55035	broad.mit.edu	37	9	95077759	95077759	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:95077759T>C	ENST00000545558.1	-	7	1640	c.1148A>G	c.(1147-1149)gAa>gGa	p.E383G	NOL8_ENST00000358855.4_Missense_Mutation_p.E315G|NOL8_ENST00000442668.2_Missense_Mutation_p.E383G|NOL8_ENST00000535387.1_Missense_Mutation_p.E383G|NOL8_ENST00000542053.1_Missense_Mutation_p.E315G			Q76FK4	NOL8_HUMAN	nucleolar protein 8	383					DNA replication|positive regulation of cell growth	nucleolus	nucleotide binding|protein binding|RNA binding			endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	16						CGCAATAATTTCATCTGTATC	0.308													8	14					0	0	1	0	0	C	95077759	T	C	95077759	3	2	81	1	0	0	0	0	1	0	0	0	10574	1783	62	3	2399	3	NOL8	9	95077759	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	43930	95077759	46135672	7312	10928											
OGN	4969	broad.mit.edu	37	9	95155416	95155416	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:95155416G>A	ENST00000262551.4	-	4	799	c.379C>T	c.(379-381)Cga>Tga	p.R127*	OGN_ENST00000468743.1_5'UTR|OGN_ENST00000375561.5_Nonsense_Mutation_p.R127*|CENPP_ENST00000375587.3_Intron	NM_033014.2	NP_148935.1	P20774	MIME_HUMAN	osteoglycin	127						extracellular space|proteinaceous extracellular matrix	growth factor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|prostate(1)|urinary_tract(1)	13						TTGTTGAATCGTGCGTAAAGA	0.358													6	39					0	0	1	0	0	A	95155416	G	A	95155416	4	1	81	1	0	0	0	0	0	1	0	0	10894	1153	40	1	533	1	OGN	9	95155416	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	77657	95155416	46058015	7313	10929											
OMD	4958	broad.mit.edu	37	9	95179567	95179567	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:95179567G>A	ENST00000375550.4	-	2	549	c.274C>T	c.(274-276)Cac>Tac	p.H92Y	CENPP_ENST00000375587.3_Intron	NM_005014.2	NP_005005.1	Q99983	OMD_HUMAN	osteomodulin	92					cell adhesion	proteinaceous extracellular matrix				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(3)|skin(2)	16						TGCTGAATGTGCATCGGAATA	0.383			T	USP6	aneurysmal bone cysts								70	138					0	0	1	0	0	A	95179567	G	A	95179567	3	1	81	1	0	0	0	0	1	0	0	0	10913	1319	46	2	999	2	OMD	9	95179567	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	24151	95179567	46033864	7314	10930											
ASPN	54829	broad.mit.edu	37	9	95228754	95228754	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:95228754T>A	ENST00000375544.3	-	4	730	c.487A>T	c.(487-489)Agt>Tgt	p.S163C	ASPN_ENST00000375543.1_Missense_Mutation_p.S163C|ASPN_ENST00000395538.3_Missense_Mutation_p.S163C|CENPP_ENST00000375587.3_Intron	NM_017680.4	NP_060150	Q9BXN1	ASPN_HUMAN	asporin	163					bone mineralization|negative regulation of tooth mineralization|negative regulation of transforming growth factor beta receptor signaling pathway	proteinaceous extracellular matrix	calcium ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	9						GGTATTTCACTTAGTTGATTG	0.373													10	126					0	0	1	0	0	A	95228754	T	A	95228754	3	1	81	1	0	0	0	0	1	0	0	0	1056	1609	56	5	675	5	ASPN	9	95228754	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	49187	95228754	45984677	7315	10931											
ECM2	1842	broad.mit.edu	37	9	95263331	95263331	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:95263331G>A	ENST00000344604.5	-	9	1758	c.1609C>T	c.(1609-1611)Cta>Tta	p.L537L	CENPP_ENST00000375587.3_Intron|ECM2_ENST00000444490.2_Silent_p.L515L	NM_001197295.1|NM_001393.3	NP_001184224.1|NP_001384.1	O94769	ECM2_HUMAN	extracellular matrix protein 2, female organ and adipocyte specific	537					cell-matrix adhesion		integrin binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						ATGGATTCTAGATTTCTGCAG	0.448													15	30					0	0	1	0	0	A	95263331	G	A	95263331	2	1	81	1	0	0	0	0	0	0	0	1	4924	933	33	2		2	ECM2	9	95263331	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	34577	95263331	45950100	7316	10932											
ECM2	1842	broad.mit.edu	37	9	95277058	95277058	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:95277058T>C	ENST00000344604.5	-	4	1058	c.909A>G	c.(907-909)cgA>cgG	p.R303R	CENPP_ENST00000375587.3_Intron|ECM2_ENST00000444490.2_Silent_p.R281R	NM_001197295.1|NM_001393.3	NP_001184224.1|NP_001384.1	O94769	ECM2_HUMAN	extracellular matrix protein 2, female organ and adipocyte specific	303					cell-matrix adhesion		integrin binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						GAAGCGGGGATCGAGAGGGCA	0.607													4	41					0	0	1	0	0	C	95277058	T	C	95277058	2	2	81	1	0	0	0	0	0	0	0	1	4924	1422	50	3		3	ECM2	9	95277058	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	13727	95277058	45936373	7317	10933	48	2									
ECM2	1842	broad.mit.edu	37	9	95277059	95277059	+	Missense_Mutation	SNP	C	C	T	rs143789386	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:95277059C>T	ENST00000344604.5	-	4	1057	c.908G>A	c.(907-909)cGa>cAa	p.R303Q	CENPP_ENST00000375587.3_Intron|ECM2_ENST00000444490.2_Missense_Mutation_p.R281Q	NM_001197295.1|NM_001393.3	NP_001184224.1|NP_001384.1	O94769	ECM2_HUMAN	extracellular matrix protein 2, female organ and adipocyte specific	303					cell-matrix adhesion		integrin binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						AAGCGGGGATCGAGAGGGCAT	0.612													16	29					0	0	1	0	0	T	95277059	C	T	95277059	3	4	81	1	0	0	0	0	1	0	0	0	4924	884	31	1	1219	1	ECM2	9	95277059	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1	95277059	45936372	7318	10934	48	2									
IPPK	64768	broad.mit.edu	37	9	95400540	95400540	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:95400540C>T	ENST00000287996.3	-	9	935	c.659G>A	c.(658-660)tGc>tAc	p.C220Y		NM_022755.5	NP_073592.1	Q9H8X2	IPPK_HUMAN	inositol 1,3,4,5,6-pentakisphosphate 2-kinase	220					inositol or phosphatidylinositol phosphorylation	cytoplasm|nucleus	ATP binding|inositol pentakisphosphate 2-kinase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(2)|urinary_tract(1)	15						GGCATCTTTGCAGCCGTAAAT	0.567													5	47					0	0	1	0	0	T	95400540	C	T	95400540	3	4	81	1	0	0	0	0	1	0	0	0	7845	710	25	2	836	2	IPPK	9	95400540	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	123481	95400540	45812891	7319	10935											
BICD2	23299	broad.mit.edu	37	9	95481452	95481452	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:95481452C>T	ENST00000356884.6	-	5	1542	c.1475G>A	c.(1474-1476)aGc>aAc	p.S492N	BICD2_ENST00000375512.3_Missense_Mutation_p.S492N	NM_001003800.1	NP_001003800.1	Q8TD16	BICD2_HUMAN	bicaudal D homolog 2 (Drosophila)	492					microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule	cytoplasmic vesicle|cytoskeleton|Golgi apparatus|plasma membrane	Rab GTPase binding			cervix(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						GTCCTGGCGGCTGGCCTTCTC	0.672													16	28					0	0	1	0	0	T	95481452	C	T	95481452	3	4	81	1	0	0	0	0	1	0	0	0	1428	797	28	2	1114	2	BICD2	9	95481452	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	80912	95481452	45731979	7320	10936											
BICD2	23299	broad.mit.edu	37	9	95481641	95481641	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:95481641A>G	ENST00000356884.6	-	5	1353	c.1286T>C	c.(1285-1287)aTc>aCc	p.I429T	BICD2_ENST00000375512.3_Missense_Mutation_p.I429T	NM_001003800.1	NP_001003800.1	Q8TD16	BICD2_HUMAN	bicaudal D homolog 2 (Drosophila)	429					microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule	cytoplasmic vesicle|cytoskeleton|Golgi apparatus|plasma membrane	Rab GTPase binding			cervix(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						AGGCCCGTTGATGTCCACCTC	0.647													13	29					0	0	1	0	0	G	95481641	A	G	95481641	3	3	81	1	0	0	0	0	1	0	0	0	1428	333	12	3	1303	3	BICD2	9	95481641	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	189	95481641	45731790	7321	10937											
BICD2	23299	broad.mit.edu	37	9	95482688	95482688	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:95482688G>A	ENST00000356884.6	-	4	1023	c.956C>T	c.(955-957)aCg>aTg	p.T319M	BICD2_ENST00000375512.3_Missense_Mutation_p.T319M	NM_001003800.1	NP_001003800.1	Q8TD16	BICD2_HUMAN	bicaudal D homolog 2 (Drosophila)	319					microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule	cytoplasmic vesicle|cytoskeleton|Golgi apparatus|plasma membrane	Rab GTPase binding			cervix(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						CTTCTTGGGCGTGGAGGTCTT	0.622													30	32					0	0	1	0	0	A	95482688	G	A	95482688	3	1	81	1	0	0	0	0	1	0	0	0	1428	1145	40	1	1637	1	BICD2	9	95482688	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1047	95482688	45730743	7322	10938											
FGD3	89846	broad.mit.edu	37	9	95796895	95796895	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:95796895T>C	ENST00000375482.3	+	17	2354	c.1858T>C	c.(1858-1860)Tgg>Cgg	p.W620R	FGD3_ENST00000538555.1_Missense_Mutation_p.W223R|FGD3_ENST00000337352.6_Missense_Mutation_p.W620R|FGD3_ENST00000416701.2_Missense_Mutation_p.W619R	NM_001083536.1	NP_001077005.1	Q5JSP0	FGD3_HUMAN	FYVE, RhoGEF and PH domain containing 3	620	PH 2.				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1)	17						CGGTGAGACCTGGAGCGAGGT	0.677													21	22					0	0	1	0	0	C	95796895	T	C	95796895	3	2	81	1	0	0	0	0	1	0	0	0	5867	1580	55	3	1916	3	FGD3	9	95796895	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	314207	95796895	45416536	7323	10939											
NINJ1	4814	broad.mit.edu	37	9	95888857	95888857	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:95888857C>T	ENST00000375446.4	-	2	209	c.139G>A	c.(139-141)Gca>Aca	p.A47T		NM_004148.3	NP_004139.2	Q92982	NINJ1_HUMAN	ninjurin 1	47					cell adhesion|nervous system development|tissue regeneration	integral to membrane				kidney(1)|large_intestine(2)|upper_aerodigestive_tract(1)	4						CTCTCGGCTGCGCTCTTCTTG	0.667													17	35					0	0	1	0	0	T	95888857	C	T	95888857	3	4	81	1	0	0	0	0	1	0	0	0	10465	768	27	1	327	1	NINJ1	9	95888857	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	91962	95888857	45324574	7324	10940											
WNK2	65268	broad.mit.edu	37	9	96051595	96051595	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:96051595G>A	ENST00000297954.4	+	20	4670	c.4670G>A	c.(4669-4671)gGg>gAg	p.G1557E	WNK2_ENST00000395477.2_Missense_Mutation_p.G1520E|WNK2_ENST00000427277.2_Missense_Mutation_p.G1132E|WNK2_ENST00000395475.2_3'UTR|WNK2_ENST00000356055.3_5'UTR|WNK2_ENST00000349097.3_Missense_Mutation_p.G1169E	NM_001282394.1	NP_001269323.1	Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	1557					intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						CCACCCCTGGGGCCCACCGTC	0.721													4	3					0	0	1	0	0	A	96051595	G	A	96051595	3	1	81	1	0	0	0	0	1	0	0	0	17438	1232	43	2	4633	2	WNK2	9	96051595	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	162738	96051595	45161836	7325	10941											
FAM120A	23196	broad.mit.edu	37	9	96214350	96214350	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:96214350C>T	ENST00000277165.6	+	1	347	c.153C>T	c.(151-153)gaC>gaT	p.D51D	FAM120A_ENST00000333936.5_Silent_p.D51D|FAM120A_ENST00000340893.4_Silent_p.D51D|FAM120AOS_ENST00000375412.5_Intron|FAM120A_ENST00000375389.3_Silent_p.D51D	NM_014612.3	NP_055427.2	Q9NZB2	F120A_HUMAN	family with sequence similarity 120A	51						cytoplasm|plasma membrane	RNA binding			endometrium(5)|kidney(3)|large_intestine(8)|lung(12)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						TGGACGCCGACAACTGCCTGC	0.731													4	1					0	0	1	0	0	T	96214350	C	T	96214350	2	4	81	1	0	0	0	0	0	0	0	1	5446	477	17	2		2	FAM120A	9	96214350	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	162755	96214350	44999081	7326	10942											
FAM120A	23196	broad.mit.edu	37	9	96305688	96305688	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:96305688C>T	ENST00000277165.6	+	11	2288	c.2094C>T	c.(2092-2094)gaC>gaT	p.D698D	FAM120A_ENST00000333936.5_Silent_p.D726D|FAM120A_ENST00000340893.4_Silent_p.D698D	NM_014612.3	NP_055427.2	Q9NZB2	F120A_HUMAN	family with sequence similarity 120A	698						cytoplasm|plasma membrane	RNA binding			endometrium(5)|kidney(3)|large_intestine(8)|lung(12)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						TGAGGTCGGACACCCCAGCCA	0.632													20	42					0	0	1	0	0	T	96305688	C	T	96305688	2	4	81	1	0	0	0	0	0	0	0	1	5446	477	17	2		2	FAM120A	9	96305688	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	91338	96305688	44907743	7327	10943											
PHF2	5253	broad.mit.edu	37	9	96339133	96339133	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:96339133C>T	ENST00000359246.4	+	1	445	c.78C>T	c.(76-78)tgC>tgT	p.C26C	PHF2_ENST00000375376.4_Silent_p.C26C	NM_005392.3	NP_005383.3	O75151	PHF2_HUMAN	PHD finger protein 2	26				FMIECDACKDWFHGSCVGVEEEE -> PRAARPPARPGPTR AAQRRGRAT (in Ref. 2; BAA31637).	liver development|negative regulation of chromatin silencing at rDNA|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K9 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;9.11e-28)		GCGACGCCTGCAAGGACTGGT	0.756													3	8					0	0	1	0	0	T	96339133	C	T	96339133	2	4	81	1	0	0	0	0	0	0	0	1	11878	718	25	2		2	PHF2	9	96339133	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	33445	96339133	44874298	7328	10944											
PTPDC1	138639	broad.mit.edu	37	9	96847558	96847558	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:96847558G>T	ENST00000375360.3	+	3	448	c.108G>T	c.(106-108)aaG>aaT	p.K36N	PTPDC1_ENST00000288976.3_Missense_Mutation_p.K88N	NM_001253830.1|NM_177995.2	NP_001240759.1|NP_818931.1	A2A3K4	PTPC1_HUMAN	protein tyrosine phosphatase domain containing 1	36							protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	32						CAACACCAAAGTACACAAAAG	0.433													16	38					4.96729e-08	5.86596e-08	1	1	0	T	96847558	G	T	96847558	3	4	81	1	0	0	0	0	1	0	0	0	12823	1020	36	4	356	4	PTPDC1	9	96847558	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	508425	96847558	44365873	7329	10945											
PTPDC1	138639	broad.mit.edu	37	9	96847695	96847695	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:96847695A>G	ENST00000375360.3	+	3	585	c.245A>G	c.(244-246)tAc>tGc	p.Y82C	PTPDC1_ENST00000288976.3_Missense_Mutation_p.Y134C	NM_001253830.1|NM_177995.2	NP_001240759.1|NP_818931.1	A2A3K4	PTPC1_HUMAN	protein tyrosine phosphatase domain containing 1	82							protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	32						AAGGGGGTTTACTCATCCTGG	0.547													17	29					0	0	1	0	0	G	96847695	A	G	96847695	3	3	81	1	0	0	0	0	1	0	0	0	12823	391	14	3	493	3	PTPDC1	9	96847695	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	137	96847695	44365736	7330	10946											
ZNF169	169841	broad.mit.edu	37	9	97062159	97062159	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:97062159C>A	ENST00000395395.2	+	5	409	c.319C>A	c.(319-321)Ctc>Atc	p.L107I	ZNF169_ENST00000340911.4_3'UTR	NM_194320.2	NP_919301.2	Q14929	ZN169_HUMAN	zinc finger protein 169	107						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	24		Acute lymphoblastic leukemia(62;0.136)				CTCGCAGCTCCTCAGACAATA	0.498													4	42					0.150653	0.152522	1	1	0	A	97062159	C	A	97062159	3	1	81	1	0	0	0	0	1	0	0	0	17800	681	24	4	333	4	ZNF169	9	97062159	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	214464	97062159	44151272	7331	10947											
FBP1	2203	broad.mit.edu	37	9	97380054	97380054	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:97380054C>A	ENST00000415431.1	-	4	651	c.422G>T	c.(421-423)aGa>aTa	p.R141I	FBP1_ENST00000375326.4_Missense_Mutation_p.R141I	NM_001127628.1	NP_001121100.1	P09467	F16P1_HUMAN	fructose-1,6-bisphosphatase 1	141					gluconeogenesis	cytosol	fructose 1,6-bisphosphate 1-phosphatase activity|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding|metal ion binding			kidney(1)|liver(1)|lung(1)	3		Acute lymphoblastic leukemia(62;0.136)			Adenosine monophosphate(DB00131)	TTTTACCTTTCTATAGATGCC	0.443													12	22					3.07112e-06	3.5041e-06	1	1	0	A	97380054	C	A	97380054	3	1	81	1	0	0	0	0	1	0	0	0	5738	913	32	4	614	4	FBP1	9	97380054	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	317895	97380054	43833377	7332	10948											
C9orf3	84909	broad.mit.edu	37	9	97522193	97522193	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:97522193T>C	ENST00000375315.2	+	1	128	c.128T>C	c.(127-129)aTa>aCa	p.I43T	C9orf3_ENST00000277198.2_Missense_Mutation_p.I43T|C9orf3_ENST00000297979.5_Missense_Mutation_p.I43T	NM_001193329.1	NP_001180258.1	Q8N6M6	AMPO_HUMAN	chromosome 9 open reading frame 3	43					leukotriene biosynthetic process|proteolysis	cytoplasm	aminopeptidase activity|metallopeptidase activity|zinc ion binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(323;0.000275)		GAGGGGACCATAGTGCTTTTC	0.443													8	58					0	0	1	0	0	C	97522193	T	C	97522193	3	2	81	1	0	0	0	0	1	0	0	0	2495	1406	49	3	130	3	C9orf3	9	97522193	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	142139	97522193	43691238	7333	10949											
C9orf3	84909	broad.mit.edu	37	9	97563235	97563235	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:97563235C>T	ENST00000375315.2	+	4	1315	c.1315C>T	c.(1315-1317)Ctg>Ttg	p.L439L	C9orf3_ENST00000277198.2_Silent_p.L439L|C9orf3_ENST00000395357.2_Silent_p.L59L|C9orf3_ENST00000297979.5_Silent_p.L439L	NM_001193329.1	NP_001180258.1	Q8N6M6	AMPO_HUMAN	chromosome 9 open reading frame 3	439					leukotriene biosynthetic process|proteolysis	cytoplasm	aminopeptidase activity|metallopeptidase activity|zinc ion binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(323;0.000275)		GTTCTCTCGGCTGGATGTTCT	0.537													11	110					0	0	1	0	0	T	97563235	C	T	97563235	2	4	81	1	0	0	0	0	0	0	0	1	2495	796	28	2		2	C9orf3	9	97563235	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	41042	97563235	43650196	7334	10950											
PTCH1	5727	broad.mit.edu	37	9	98212155	98212155	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:98212155C>T	ENST00000430669.2	-	21	3904	c.3319G>A	c.(3319-3321)Gtg>Atg	p.V1107M	PTCH1_ENST00000375274.2_Missense_Mutation_p.V1172M|PTCH1_ENST00000331920.6_Missense_Mutation_p.V1173M|PTCH1_ENST00000421141.1_Missense_Mutation_p.V1022M|PTCH1_ENST00000437951.1_Missense_Mutation_p.V1107M|PTCH1_ENST00000418258.1_Missense_Mutation_p.V1022M|PTCH1_ENST00000429896.2_Missense_Mutation_p.V1022M			Q13635	PTC1_HUMAN	patched 1	1173					embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity	p.L1170_P1180>WT(1)		NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				GACAAAAGCACGGGAAGCAAA	0.542													5	15					0	0	1	0	0	T	98212155	C	T	98212155	3	4	81	1	0	0	0	0	1	0	0	0	12779	536	19	1	838	1	PTCH1	9	98212155	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	648920	98212155	43001276	7335	10951											
PTCH1	5727	broad.mit.edu	37	9	98239054	98239054	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:98239054C>T	ENST00000430669.2	-	11	1976	c.1391G>A	c.(1390-1392)aGa>aAa	p.R464K	PTCH1_ENST00000375274.2_Missense_Mutation_p.R529K|PTCH1_ENST00000331920.6_Missense_Mutation_p.R530K|PTCH1_ENST00000421141.1_Missense_Mutation_p.R379K|PTCH1_ENST00000437951.1_Missense_Mutation_p.R464K|PTCH1_ENST00000418258.1_Missense_Mutation_p.R379K|PTCH1_ENST00000429896.2_Missense_Mutation_p.R379K			Q13635	PTC1_HUMAN	patched 1	530	SSD.				embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity			NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				AAAAGGGATTCTTTTATTCTG	0.418													5	14					0	0	1	0	0	T	98239054	C	T	98239054	3	4	81	1	0	0	0	0	1	0	0	0	12779	913	32	2	2806	2	PTCH1	9	98239054	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	26899	98239054	42974377	7336	10952											
CDC14B	8555	broad.mit.edu	37	9	99272007	99272007	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:99272007C>A	ENST00000375241.1	-	13	1859	c.1408G>T	c.(1408-1410)Ggc>Tgc	p.G470C	CDC14B_ENST00000375242.3_Missense_Mutation_p.G433C|CDC14B_ENST00000463569.1_Intron|CDC14B_ENST00000375240.3_Intron|CDC14B_ENST00000265659.2_Intron	NM_003671.3|NM_033331.2	NP_003662.1|NP_201588.1	O60729	CC14B_HUMAN	cell division cycle 14B	470					activation of anaphase-promoting complex activity|DNA repair|G2/M transition DNA damage checkpoint	nucleolus|nucleoplasm	protein binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)	15		Acute lymphoblastic leukemia(62;0.0559)				TTAGTAATGCCTGCACTGCCA	0.358													5	113					0.184627	0.18622	1	1	0	A	99272007	C	A	99272007	3	1	81	1	0	0	0	0	1	0	0	0	3079	681	24	4	96	4	CDC14B	9	99272007	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1032953	99272007	41941424	7337	10953											
CDC14B	8555	broad.mit.edu	37	9	99285544	99285544	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:99285544G>A	ENST00000375241.1	-	11	1695	c.1244C>T	c.(1243-1245)cCg>cTg	p.P415L	CDC14B_ENST00000375242.3_Splice_Site_p.P378L|CDC14B_ENST00000375236.1_Splice_Site_p.P415L|CDC14B_ENST00000463569.1_Splice_Site_p.P415L|CDC14B_ENST00000375240.3_Splice_Site_p.P415L|CDC14B_ENST00000265659.2_Splice_Site_p.P415L	NM_003671.3|NM_033331.2	NP_003662.1|NP_201588.1	O60729	CC14B_HUMAN	cell division cycle 14B	415					activation of anaphase-promoting complex activity|DNA repair|G2/M transition DNA damage checkpoint	nucleolus|nucleoplasm	protein binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)	15		Acute lymphoblastic leukemia(62;0.0559)				CTTGATTACCGGTTCGGGTTC	0.443													10	71					0	0	1	0	0	A	99285544	G	A	99285544	5	1	81	1	0	0	0	0	0	0	1	0	3079	1130	39	1	268	1	CDC14B	9	99285544	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	13537	99285544	41927887	7338	10954											
CDC14B	8555	broad.mit.edu	37	9	99285970	99285970	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:99285970G>A	ENST00000375241.1	-	10	1435	c.984C>T	c.(982-984)taC>taT	p.Y328Y	CDC14B_ENST00000375242.3_Silent_p.Y291Y|CDC14B_ENST00000375236.1_Silent_p.Y328Y|CDC14B_ENST00000463569.1_Silent_p.Y328Y|CDC14B_ENST00000375240.3_Silent_p.Y328Y|CDC14B_ENST00000265659.2_Silent_p.Y328Y	NM_003671.3|NM_033331.2	NP_003662.1|NP_201588.1	O60729	CC14B_HUMAN	cell division cycle 14B	328	B.				activation of anaphase-promoting complex activity|DNA repair|G2/M transition DNA damage checkpoint	nucleolus|nucleoplasm	protein binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)	15		Acute lymphoblastic leukemia(62;0.0559)				GCTTCATGATGTAGCAGGCTA	0.517													15	25					0	0	1	0	0	A	99285970	G	A	99285970	2	1	81	1	0	0	0	0	0	0	0	1	3079	1372	48	2		2	CDC14B	9	99285970	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	426	99285970	41927461	7339	10955											
ZNF510	22869	broad.mit.edu	37	9	99521449	99521449	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:99521449G>A	ENST00000375231.1	-	6	2313	c.1663C>T	c.(1663-1665)Cga>Tga	p.R555*	ZNF510_ENST00000223428.4_Nonsense_Mutation_p.R555*			Q9Y2H8	ZN510_HUMAN	zinc finger protein 510	555					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|stomach(1)|urinary_tract(1)	21		Acute lymphoblastic leukemia(62;0.0527)				TGATCTTTTCGCCAGAAGGAT	0.413													51	88					0	0	1	0	0	A	99521449	G	A	99521449	4	1	81	1	0	0	0	0	0	1	0	0	18011	1095	38	1	392	1	ZNF510	9	99521449	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	235479	99521449	41691982	7340	10956											
ZNF782	158431	broad.mit.edu	37	9	99581278	99581278	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:99581278A>G	ENST00000481138.1	-	6	1688	c.1027T>C	c.(1027-1029)Tgt>Cgt	p.C343R	ZNF782_ENST00000535338.1_Missense_Mutation_p.C211R	NM_001001662.1	NP_001001662.1	Q6ZMW2	ZN782_HUMAN	zinc finger protein 782	343					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(8)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)	33		Acute lymphoblastic leukemia(62;0.0527)				GTCTCTGTACATGGGTGATAA	0.408													14	218					0	0	1	0	0	G	99581278	A	G	99581278	3	3	81	1	0	0	0	0	1	0	0	0	18204	217	8	3	1076	3	ZNF782	9	99581278	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	59829	99581278	41632153	7341	10957											
ZNF782	158431	broad.mit.edu	37	9	99581760	99581760	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:99581760G>T	ENST00000481138.1	-	6	1206	c.545C>A	c.(544-546)aCt>aAt	p.T182N	ZNF782_ENST00000466833.1_5'UTR|ZNF782_ENST00000535338.1_Missense_Mutation_p.T50N	NM_001001662.1	NP_001001662.1	Q6ZMW2	ZN782_HUMAN	zinc finger protein 782	182					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(8)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)	33		Acute lymphoblastic leukemia(62;0.0527)				TTTCTCTTGAGTGTTAGTTCT	0.398													7	75					0.000157383	0.000171784	1	1	0	T	99581760	G	T	99581760	3	4	81	1	0	0	0	0	1	0	0	0	18204	1029	36	4	1558	4	ZNF782	9	99581760	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	482	99581760	41631671	7342	10958											
TDRD7	23424	broad.mit.edu	37	9	100193223	100193223	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:100193223C>T	ENST00000355295.4	+	3	511	c.216C>T	c.(214-216)tgC>tgT	p.C72C	TDRD7_ENST00000422139.2_5'UTR	NM_014290.2	NP_055105.2	Q8NHU6	TDRD7_HUMAN	tudor domain containing 7	72	Lotus/OST-HTH 1.				lens fiber cell differentiation|lens morphogenesis in camera-type eye|posttranscriptional regulation of gene expression|spermatogenesis	chromatoid body	mRNA binding			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Acute lymphoblastic leukemia(62;0.158)				AGATTACCTGCTATGCCATGG	0.448													9	95					0	0	1	0	0	T	100193223	C	T	100193223	2	4	81	1	0	0	0	0	0	0	0	1	15794	805	28	2		2	TDRD7	9	100193223	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	611463	100193223	41020208	7343	10959											
TDRD7	23424	broad.mit.edu	37	9	100204072	100204072	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:100204072T>C	ENST00000355295.4	+	6	1065	c.770T>C	c.(769-771)cTt>cCt	p.L257P	TDRD7_ENST00000422139.2_Missense_Mutation_p.L183P	NM_014290.2	NP_055105.2	Q8NHU6	TDRD7_HUMAN	tudor domain containing 7	257	Lotus/OST-HTH 2.				lens fiber cell differentiation|lens morphogenesis in camera-type eye|posttranscriptional regulation of gene expression|spermatogenesis	chromatoid body	mRNA binding			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Acute lymphoblastic leukemia(62;0.158)				ATATCTAAGCTTCCACATTTT	0.343													33	52					0	0	1	0	0	C	100204072	T	C	100204072	3	2	81	1	0	0	0	0	1	0	0	0	15794	1609	56	3	788	3	TDRD7	9	100204072	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	10849	100204072	41009359	7344	10960											
TDRD7	23424	broad.mit.edu	37	9	100222971	100222971	+	Missense_Mutation	SNP	C	C	A	rs17852595		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:100222971C>A	ENST00000355295.4	+	7	1662	c.1367C>A	c.(1366-1368)cCt>cAt	p.P456H	TDRD7_ENST00000422139.2_Missense_Mutation_p.P382H	NM_014290.2	NP_055105.2	Q8NHU6	TDRD7_HUMAN	tudor domain containing 7	456			P -> L (in dbSNP:rs17852595).		lens fiber cell differentiation|lens morphogenesis in camera-type eye|posttranscriptional regulation of gene expression|spermatogenesis	chromatoid body	mRNA binding			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Acute lymphoblastic leukemia(62;0.158)				ACAGTTCCTCCTTTAATGATT	0.368													29	29					4.22769e-11	5.22336e-11	1	1	0	A	100222971	C	A	100222971	3	1	81	1	0	0	0	0	1	0	0	0	15794	681	24	4	1389	4	TDRD7	9	100222971	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	18899	100222971	40990460	7345	10961											
NCBP1	4686	broad.mit.edu	37	9	100407398	100407398	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:100407398G>T	ENST00000375147.3	+	5	637		c.e5-1			NM_002486.4	NP_002477.1	Q09161	NCBP1_HUMAN	nuclear cap binding protein subunit 1, 80kDa						gene silencing by RNA|histone mRNA metabolic process|mRNA 3'-end processing|mRNA capping|mRNA cleavage|mRNA export from nucleus|ncRNA metabolic process|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of mRNA 3'-end processing|positive regulation of viral transcription|regulation of translational initiation|spliceosomal snRNP assembly|termination of RNA polymerase II transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	cytosol|mRNA cap binding complex|nucleoplasm|ribonucleoprotein complex	protein binding|RNA cap binding			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)	19		Acute lymphoblastic leukemia(62;0.158)				TGCCCCAACAGGTCCGTTTTT	0.338													37	51					2.04263e-09	2.46931e-09	1	1	0	T	100407398	G	T	100407398	5	4	81	1	0	0	0	0	0	0	1	0	10258	1014	35	4	399	4	NCBP1	9	100407398	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	184427	100407398	40806033	7346	10962											
FOXE1	2304	broad.mit.edu	37	9	100616505	100616505	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:100616505C>T	ENST00000375123.3	+	1	970	c.309C>T	c.(307-309)caC>caT	p.H103H		NM_004473.3	NP_004464.2	O00358	FOXE1_HUMAN	forkhead box E1 (thyroid transcription factor 2)	103					cell migration|embryonic organ morphogenesis|hair follicle morphogenesis|hard palate development|lens morphogenesis in camera-type eye|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|peripheral nervous system development|pharynx development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|soft palate development|thymus development|thyroid gland development|thyroid hormone generation	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			central_nervous_system(1)|endometrium(1)|lung(2)|upper_aerodigestive_tract(1)	5		Acute lymphoblastic leukemia(62;0.158)				GCATCCGCCACAACCTCACAC	0.632													4	37					0	0	1	0	0	T	100616505	C	T	100616505	2	4	81	1	0	0	0	0	0	0	0	1	6037	477	17	2		2	FOXE1	9	100616505	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	209107	100616505	40596926	7347	10963											
C9orf156	51531	broad.mit.edu	37	9	100667245	100667246	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:100667245_100667246insA	ENST00000375119.3	-	5	1171_1172	c.1095_1096insT	c.(1093-1098)tttcagfs	p.Q366fs		NM_016481.3	NP_057565.3	Q9BU70	NAP1_HUMAN	chromosome 9 open reading frame 156	366					interspecies interaction between organisms		hydrolase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)|skin(1)	13		Acute lymphoblastic leukemia(62;0.158)				TCTGCTGACTGAAAATATTTAA	0.436													28	59	---	---	---	---						A	100667246	-	A	100667245	7	5	81	1	0	1	1	0	0	0	0	0	2483	1299	45	0	233	0	C9orf156	9	100667245	Frame_Shift_Ins	INS	-	TCGA-DU-6392-01A-11D-1705-08	50740	100667245	40546186	7348	10964											
C9orf156	51531	broad.mit.edu	37	9	100672556	100672556	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:100672556G>A	ENST00000375119.3	-	4	828	c.752C>T	c.(751-753)gCa>gTa	p.A251V	C9orf156_ENST00000478126.1_5'UTR	NM_016481.3	NP_057565.3	Q9BU70	NAP1_HUMAN	chromosome 9 open reading frame 156	251					interspecies interaction between organisms		hydrolase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)|skin(1)	13		Acute lymphoblastic leukemia(62;0.158)				AAAATCCACTGCTATCTCCCT	0.443													11	113					0	0	1	0	0	A	100672556	G	A	100672556	3	1	81	1	0	0	0	0	1	0	0	0	2483	1319	46	2	581	2	C9orf156	9	100672556	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	5311	100672556	40540875	7349	10965											
HEMGN	55363	broad.mit.edu	37	9	100693430	100693430	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:100693430C>T	ENST00000259456.3	-	4	390	c.247G>A	c.(247-249)Gaa>Aaa	p.E83K		NM_018437.3|NM_197978.2	NP_060907.2|NP_932095.1	Q9BXL5	HEMGN_HUMAN	hemogen	83	Necessary for nuclear localization.				cell differentiation|multicellular organismal development					NS(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|skin(2)|urinary_tract(1)	27		Acute lymphoblastic leukemia(62;0.0559)				ACCTTCAATTCTGTGTTTTGT	0.433													23	59					0	0	1	0	0	T	100693430	C	T	100693430	3	4	81	1	0	0	0	0	1	0	0	0	7091	922	32	2	1215	2	HEMGN	9	100693430	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	20874	100693430	40520001	7350	10966											
NANS	54187	broad.mit.edu	37	9	100843121	100843121	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:100843121C>T	ENST00000210444.5	+	5	697	c.627C>T	c.(625-627)gaC>gaT	p.D209D	TRIM14_ENST00000478530.1_Intron|TRIM14_ENST00000375098.3_Intron|NANS_ENST00000461452.1_3'UTR	NM_018946.3	NP_061819.2	Q9NR45	SIAS_HUMAN	N-acetylneuraminic acid synthase	209					lipopolysaccharide biosynthetic process	cytoplasm	N-acetylneuraminate synthase activity|N-acylneuraminate cytidylyltransferase activity|N-acylneuraminate-9-phosphate synthase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)	11		Acute lymphoblastic leukemia(62;0.0559)				TCTTTCCTGACATTCCCATAG	0.428													7	115					0	0	1	0	0	T	100843121	C	T	100843121	2	4	81	1	0	0	0	0	0	0	0	1	10203	477	17	2		2	NANS	9	100843121	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	149691	100843121	40370310	7351	10967											
CORO2A	7464	broad.mit.edu	37	9	100897184	100897184	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:100897184G>A	ENST00000343933.5	-	4	629	c.372C>T	c.(370-372)taC>taT	p.Y124Y	CORO2A_ENST00000375077.4_Silent_p.Y124Y	NM_003389.3	NP_003380.3	Q92828	COR2A_HUMAN	coronin, actin binding protein, 2A	124					actin cytoskeleton organization|intracellular signal transduction	actin cytoskeleton|transcriptional repressor complex	actin filament binding			endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|skin(4)|urinary_tract(1)	26		Acute lymphoblastic leukemia(62;0.0559)				GTTCCTTCCTGTAGGCCGTGA	0.612													5	48					0	0	1	0	0	A	100897184	G	A	100897184	2	1	81	1	0	0	0	0	0	0	0	1	3779	1372	48	2		2	CORO2A	9	100897184	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	54063	100897184	40316247	7352	10968											
TBC1D2	55357	broad.mit.edu	37	9	100961719	100961719	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:100961719G>A	ENST00000375066.5	-	13	2789	c.2698C>T	c.(2698-2700)Cgc>Tgc	p.R900C	TBC1D2_ENST00000375063.1_Missense_Mutation_p.R451C|TBC1D2_ENST00000375064.1_3'UTR|TBC1D2_ENST00000342112.5_Missense_Mutation_p.R693C	NM_018421.3	NP_060891.3	Q9BYX2	TBD2A_HUMAN	TBC1 domain family, member 2	911						cell junction|cytoplasmic membrane-bounded vesicle|nucleus	Rab GTPase activator activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)		ACAGCTCTGCGCCGGGATGCC	0.692													18	118					0	0	1	0	0	A	100961719	G	A	100961719	3	1	81	1	0	0	0	0	1	0	0	0	15665	1087	38	1	59	1	TBC1D2	9	100961719	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	64535	100961719	40251712	7353	10969											
TBC1D2	55357	broad.mit.edu	37	9	100961731	100961731	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:100961731G>A	ENST00000375066.5	-	13	2777	c.2686C>T	c.(2686-2688)Cgg>Tgg	p.R896W	TBC1D2_ENST00000375063.1_Missense_Mutation_p.R447W|TBC1D2_ENST00000375064.1_3'UTR|TBC1D2_ENST00000342112.5_Missense_Mutation_p.R689W	NM_018421.3	NP_060891.3	Q9BYX2	TBD2A_HUMAN	TBC1 domain family, member 2	907						cell junction|cytoplasmic membrane-bounded vesicle|nucleus	Rab GTPase activator activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)		CGGGATGCCCGCCTCTCCAGG	0.682													66	91					0	0	1	0	0	A	100961731	G	A	100961731	3	1	81	1	0	0	0	0	1	0	0	0	15665	1086	38	1	71	1	TBC1D2	9	100961731	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	12	100961731	40251700	7354	10970											
TBC1D2	55357	broad.mit.edu	37	9	100983342	100983342	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:100983342G>A	ENST00000375066.5	-	6	1238	c.1147C>T	c.(1147-1149)Cgg>Tgg	p.R383W	TBC1D2_ENST00000493589.2_Intron|TBC1D2_ENST00000375064.1_Missense_Mutation_p.R383W|TBC1D2_ENST00000342112.5_Missense_Mutation_p.R165W	NM_018421.3	NP_060891.3	Q9BYX2	TBD2A_HUMAN	TBC1 domain family, member 2	383	Interaction with RAC1.					cell junction|cytoplasmic membrane-bounded vesicle|nucleus	Rab GTPase activator activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)		AGGCTCTCCCGCTCCTGCTCC	0.687													5	10					0	0	1	0	0	A	100983342	G	A	100983342	3	1	81	1	0	0	0	0	1	0	0	0	15665	1086	38	1	1638	1	TBC1D2	9	100983342	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	21611	100983342	40230089	7355	10971											
GABBR2	9568	broad.mit.edu	37	9	101068592	101068592	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:101068592G>A	ENST00000259455.2	-	15	2499	c.2040C>T	c.(2038-2040)aaC>aaT	p.N680N		NM_005458.7	NP_005449.5	O75899	GABR2_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 2	680					negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity		NOTCH1_ENST00000277541/GABBR2(2)	breast(4)|endometrium(4)|large_intestine(12)|lung(21)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	49		Acute lymphoblastic leukemia(62;0.0527)			Baclofen(DB00181)	GGATGCTGACGTTGCGGGTCT	0.547													11	16					0	0	1	0	0	A	101068592	G	A	101068592	2	1	81	1	0	0	0	0	0	0	0	1	6191	1136	40	1		1	GABBR2	9	101068592	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	85250	101068592	40144839	7356	10972											
ANKS6	203286	broad.mit.edu	37	9	101518861	101518861	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:101518861G>A	ENST00000353234.4	-	12	2214	c.2167C>T	c.(2167-2169)Cca>Tca	p.P723S	ANKS6_ENST00000540940.1_Missense_Mutation_p.P528S|ANKS6_ENST00000375018.1_Missense_Mutation_p.P724S|ANKS6_ENST00000375019.2_Missense_Mutation_p.P422S			Q68DC2	ANKS6_HUMAN	ankyrin repeat and sterile alpha motif domain containing 6	723	Ser-rich.									endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	21		Acute lymphoblastic leukemia(62;0.0527)				GTTCCAGATGGAGGCCTTTTG	0.512													23	29					0	0	1	0	0	A	101518861	G	A	101518861	3	1	81	1	0	0	0	0	1	0	0	0	686	1174	41	2	464	2	ANKS6	9	101518861	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	450269	101518861	39694570	7357	10973											
ANKS6	203286	broad.mit.edu	37	9	101530377	101530377	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:101530377C>T	ENST00000353234.4	-	11	2175	c.2128G>A	c.(2128-2130)Gct>Act	p.A710T	ANKS6_ENST00000540940.1_Missense_Mutation_p.A515T|ANKS6_ENST00000375018.1_Missense_Mutation_p.A710T|ANKS6_ENST00000375019.2_Missense_Mutation_p.A409T			Q68DC2	ANKS6_HUMAN	ankyrin repeat and sterile alpha motif domain containing 6	710	Ser-rich.									endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	21		Acute lymphoblastic leukemia(62;0.0527)				CCAACAGGAGCGCTGCCACCT	0.602													4	4					0	0	1	0	0	T	101530377	C	T	101530377	3	4	81	1	0	0	0	0	1	0	0	0	686	768	27	1	507	1	ANKS6	9	101530377	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	11516	101530377	39683054	7358	10974											
ANKS6	203286	broad.mit.edu	37	9	101536295	101536295	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:101536295A>G	ENST00000353234.4	-	9	1732	c.1685T>C	c.(1684-1686)cTa>cCa	p.L562P	ANKS6_ENST00000540940.1_Missense_Mutation_p.L367P|ANKS6_ENST00000375018.1_Missense_Mutation_p.L562P|ANKS6_ENST00000375019.2_Missense_Mutation_p.L261P			Q68DC2	ANKS6_HUMAN	ankyrin repeat and sterile alpha motif domain containing 6	562										endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	21		Acute lymphoblastic leukemia(62;0.0527)				GGAAGGGGGTAGGAATGGGGG	0.592													3	37					0	0	1	0	0	G	101536295	A	G	101536295	3	3	81	1	0	0	0	0	1	0	0	0	686	420	15	3	958	3	ANKS6	9	101536295	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	5918	101536295	39677136	7359	10975											
ANKS6	203286	broad.mit.edu	37	9	101552558	101552558	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:101552558C>T	ENST00000353234.4	-	2	737	c.690G>A	c.(688-690)atG>atA	p.M230I	ANKS6_ENST00000471846.1_5'UTR|ANKS6_ENST00000540940.1_Missense_Mutation_p.M35I|ANKS6_ENST00000375018.1_Missense_Mutation_p.M230I|ANKS6_ENST00000375019.2_Intron			Q68DC2	ANKS6_HUMAN	ankyrin repeat and sterile alpha motif domain containing 6	230										endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	21		Acute lymphoblastic leukemia(62;0.0527)				GTGCGGCCAGCATCAGCGGGC	0.697													16	25					0	0	1	0	0	T	101552558	C	T	101552558	3	4	81	1	0	0	0	0	1	0	0	0	686	710	25	2	1981	2	ANKS6	9	101552558	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	16263	101552558	39660873	7360	10976											
GALNT12	79695	broad.mit.edu	37	9	101599426	101599426	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:101599426G>A	ENST00000375011.3	+	6	1208	c.1208G>A	c.(1207-1209)cGc>cAc	p.R403H		NM_024642.4	NP_078918.3	Q8IXK2	GLT12_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 12 (GalNAc-T12)	403						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(1)|endometrium(2)|large_intestine(3)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	17		Acute lymphoblastic leukemia(62;0.0559)				CCCCGTGCCCGCTTGGTGAGT	0.532													48	60					0	0	1	0	0	A	101599426	G	A	101599426	3	1	81	1	0	0	0	0	1	0	0	0	6250	1087	38	1	1230	1	GALNT12	9	101599426	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	46868	101599426	39614005	7361	10977											
GALNT12	79695	broad.mit.edu	37	9	101611353	101611353	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:101611353C>A	ENST00000375011.3	+	10	1725	c.1725C>A	c.(1723-1725)ttC>ttA	p.F575L	RP11-92C4.3_ENST00000589257.1_RNA|RP11-92C4.3_ENST00000433997.1_RNA|GALNT12_ENST00000470473.1_3'UTR	NM_024642.4	NP_078918.3	Q8IXK2	GLT12_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 12 (GalNAc-T12)	575	Ricin B-type lectin.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(1)|endometrium(2)|large_intestine(3)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	17		Acute lymphoblastic leukemia(62;0.0559)				AGAAATGGTTCTTCAAAGAGC	0.498											OREG0019361	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	19	29					8.00594e-06	9.07183e-06	1	1	0	A	101611353	C	A	101611353	3	1	81	1	0	0	0	0	1	0	0	0	6250	912	32	4	1763	4	GALNT12	9	101611353	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	11927	101611353	39602078	7362	10978											
COL15A1	1306	broad.mit.edu	37	9	101748295	101748295	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:101748295C>T	ENST00000375001.3	+	3	972	c.549C>T	c.(547-549)agC>agT	p.S183S		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	183	TSP N-terminal.				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				AGGAGCACAGCCGCATCCCCT	0.587													29	33					0	0	1	0	0	T	101748295	C	T	101748295	2	4	81	1	0	0	0	0	0	0	0	1	3695	738	26	2		2	COL15A1	9	101748295	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	136942	101748295	39465136	7363	10979											
TGFBR1	7046	broad.mit.edu	37	9	101894964	101894964	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:101894964G>T	ENST00000374994.4	+	3	634	c.517G>T	c.(517-519)Gag>Tag	p.E173*	TGFBR1_ENST00000552516.1_Nonsense_Mutation_p.E177*|TGFBR1_ENST00000550253.1_Nonsense_Mutation_p.E104*|TGFBR1_ENST00000374990.2_Intron	NM_004612.2	NP_004603.1	P36897	TGFR1_HUMAN	transforming growth factor, beta receptor 1	173					activation of MAPKK activity|anterior/posterior pattern formation|artery morphogenesis|collagen fibril organization|embryonic cranial skeleton morphogenesis|germ cell migration|heart development|kidney development|neuron fate commitment|palate development|parathyroid gland development|pathway-restricted SMAD protein phosphorylation|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|pharyngeal system development|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of cellular component movement|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of SMAD protein import into nucleus|positive regulation of survival gene product expression|positive regulation of transcription, DNA-dependent|response to cholesterol|thymus development|transforming growth factor beta receptor signaling pathway		ATP binding|I-SMAD binding|metal ion binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type I|type II transforming growth factor beta receptor binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	27		Acute lymphoblastic leukemia(62;0.0559)				TTTTATTTCAGAGGGTACTAC	0.398													5	112					3.59834e-05	3.99423e-05	1	1	0	T	101894964	G	T	101894964	4	4	81	1	0	0	0	0	0	1	0	0	15881	943	33	4	527	4	TGFBR1	9	101894964	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	146669	101894964	39318467	7364	10980											
INVS	27130	broad.mit.edu	37	9	103027136	103027136	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:103027136T>C	ENST00000262457.2	+	11	1682	c.1497T>C	c.(1495-1497)aaT>aaC	p.N499N	INVS_ENST00000541287.1_Silent_p.N403N|INVS_ENST00000262456.2_Silent_p.N499N	NM_014425.3	NP_055240.2	Q9Y283	INVS_HUMAN	inversin	499					negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytoplasm|membrane|microtubule|nucleus|spindle	calmodulin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31		Acute lymphoblastic leukemia(62;0.056)				CCTGCAACAATGGATACCTTG	0.343													28	44					0	0	1	0	0	C	103027136	T	C	103027136	2	2	81	1	0	0	0	0	0	0	0	1	7831	1461	51	3		3	INVS	9	103027136	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	1132172	103027136	38186295	7365	10981											
INVS	27130	broad.mit.edu	37	9	103054731	103054731	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:103054731G>A	ENST00000262457.2	+	14	2377	c.2192G>A	c.(2191-2193)gGc>gAc	p.G731D	INVS_ENST00000541287.1_Missense_Mutation_p.G635D|INVS_ENST00000262456.2_Intron	NM_014425.3	NP_055240.2	Q9Y283	INVS_HUMAN	inversin	731					negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytoplasm|membrane|microtubule|nucleus|spindle	calmodulin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31		Acute lymphoblastic leukemia(62;0.056)				GAGACAGCTGGCGATGAGCGG	0.577													8	36					0	0	1	0	0	A	103054731	G	A	103054731	3	1	81	1	0	0	0	0	1	0	0	0	7831	1203	42	2	2242	2	INVS	9	103054731	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	27595	103054731	38158700	7366	10982											
TEX10	54881	broad.mit.edu	37	9	103092422	103092422	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:103092422T>C	ENST00000374902.4	-	6	1456	c.1280A>G	c.(1279-1281)aAc>aGc	p.N427S	TEX10_ENST00000535814.1_Missense_Mutation_p.N430S|TEX10_ENST00000537512.1_Missense_Mutation_p.N362S	NM_017746.3	NP_060216.2	Q9NXF1	TEX10_HUMAN	testis expressed 10	427						integral to membrane|MLL1 complex|nuclear membrane|nucleolus	binding			NS(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	38		Acute lymphoblastic leukemia(62;0.0527)		OV - Ovarian serous cystadenocarcinoma(323;0.157)		ATGATCTATGTTATTGGAGAG	0.373													69	85					0	0	1	0	0	C	103092422	T	C	103092422	3	2	81	1	0	0	0	0	1	0	0	0	15831	1725	60	3	1549	3	TEX10	9	103092422	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	37691	103092422	38121009	7367	10983											
TEX10	54881	broad.mit.edu	37	9	103109222	103109222	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:103109222C>T	ENST00000374902.4	-	3	823	c.647G>A	c.(646-648)cGg>cAg	p.R216Q	TEX10_ENST00000535814.1_Missense_Mutation_p.R219Q|TEX10_ENST00000537512.1_Missense_Mutation_p.R151Q	NM_017746.3	NP_060216.2	Q9NXF1	TEX10_HUMAN	testis expressed 10	216						integral to membrane|MLL1 complex|nuclear membrane|nucleolus	binding			NS(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	38		Acute lymphoblastic leukemia(62;0.0527)		OV - Ovarian serous cystadenocarcinoma(323;0.157)		AGTGAGTCTCCGATTAGGATT	0.418													25	44					0	0	1	0	0	T	103109222	C	T	103109222	3	4	81	1	0	0	0	0	1	0	0	0	15831	652	23	1	2194	1	TEX10	9	103109222	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	16800	103109222	38104209	7368	10984											
TEX10	54881	broad.mit.edu	37	9	103109555	103109555	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:103109555G>A	ENST00000374902.4	-	3	490	c.314C>T	c.(313-315)gCt>gTt	p.A105V	TEX10_ENST00000535814.1_Missense_Mutation_p.A108V|TEX10_ENST00000537512.1_Missense_Mutation_p.A40V	NM_017746.3	NP_060216.2	Q9NXF1	TEX10_HUMAN	testis expressed 10	105						integral to membrane|MLL1 complex|nuclear membrane|nucleolus	binding			NS(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	38		Acute lymphoblastic leukemia(62;0.0527)		OV - Ovarian serous cystadenocarcinoma(323;0.157)		TGTAAACACAGCAGTCACTTC	0.368													19	191					0	0	1	0	0	A	103109555	G	A	103109555	3	1	81	1	0	0	0	0	1	0	0	0	15831	971	34	2	2527	2	TEX10	9	103109555	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	333	103109555	38103876	7369	10985											
TEX10	54881	broad.mit.edu	37	9	103111563	103111563	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:103111563G>A	ENST00000374902.4	-	2	259	c.83C>T	c.(82-84)gCt>gTt	p.A28V	TEX10_ENST00000535814.1_Missense_Mutation_p.A31V|TEX10_ENST00000537512.1_Intron	NM_017746.3	NP_060216.2	Q9NXF1	TEX10_HUMAN	testis expressed 10	28						integral to membrane|MLL1 complex|nuclear membrane|nucleolus	binding			NS(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	38		Acute lymphoblastic leukemia(62;0.0527)		OV - Ovarian serous cystadenocarcinoma(323;0.157)		TGTAGGAGTAGCATTTTGTAA	0.318													12	27					0	0	1	0	0	A	103111563	G	A	103111563	3	1	81	1	0	0	0	0	1	0	0	0	15831	971	34	2	2762	2	TEX10	9	103111563	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2008	103111563	38101868	7370	10986											
TMEFF1	8577	broad.mit.edu	37	9	103338803	103338803	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:103338803G>A	ENST00000374879.4	+	10	1496	c.1064G>A	c.(1063-1065)tGc>tAc	p.C355Y	MSANTD3-TMEFF1_ENST00000502978.1_Missense_Mutation_p.M318I|TMEFF1_ENST00000334943.6_Missense_Mutation_p.C316Y	NM_003692.4	NP_003683.2			transmembrane protein with EGF-like and two follistatin-like domains 1											NS(1)|kidney(1)|large_intestine(7)|lung(9)|stomach(1)	19		Acute lymphoblastic leukemia(62;0.0452)				AACAGAAAATGCCCCAAAAAC	0.318													31	40					0	0	1	0	0	A	103338803	G	A	103338803	3	1	81	1	0	0	0	0	1	0	0	0	16073	1319	46	2	1102	2	TMEFF1	9	103338803	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	227240	103338803	37874628	7371	10987											
ZNF189	7743	broad.mit.edu	37	9	104171082	104171082	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:104171082T>A	ENST00000374861.3	+	3	1274	c.990T>A	c.(988-990)ttT>ttA	p.F330L	ZNF189_ENST00000339664.2_Missense_Mutation_p.F344L|ZNF189_ENST00000259395.4_Missense_Mutation_p.F302L	NM_001278231.1|NM_001278232.1|NM_003452.2	NP_001265160.1|NP_001265161.1|NP_003443.2	O75820	ZN189_HUMAN	zinc finger protein 189	344					negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	26		Acute lymphoblastic leukemia(62;0.0559)				AGAAGCCTTTTCTTTGTATTG	0.418													10	82					0	0	1	0	0	A	104171082	T	A	104171082	3	1	81	1	0	0	0	0	1	0	0	0	17812	1780	62	5	1042	5	ZNF189	9	104171082	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	832279	104171082	37042349	7372	10988											
ALDOB	229	broad.mit.edu	37	9	104193166	104193166	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:104193166C>T	ENST00000374855.4	-	2	128	c.4G>A	c.(4-6)Gcc>Acc	p.A2T		NM_000035.3	NP_000026.2	P05062	ALDOB_HUMAN	aldolase B, fructose-bisphosphate	2					fructose 1,6-bisphosphate metabolic process|fructose catabolic process|gluconeogenesis|glycolysis|NADH oxidation|positive regulation of ATPase activity|vacuolar proton-transporting V-type ATPase complex assembly	centriolar satellite|cytosol	ATPase binding|cytoskeletal protein binding|fructose binding|fructose-bisphosphate aldolase activity|identical protein binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(5)|prostate(2)|skin(4)|urinary_tract(1)	24		Acute lymphoblastic leukemia(62;0.0559)				AATCGGTGGGCCATGGTGACA	0.547													6	17					0	0	1	0	0	T	104193166	C	T	104193166	3	4	81	1	0	0	0	0	1	0	0	0	505	739	26	2	1122	2	ALDOB	9	104193166	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	22084	104193166	37020265	7373	10989											
GRIN3A	116443	broad.mit.edu	37	9	104432710	104432710	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:104432710T>C	ENST00000361820.3	-	3	2584	c.1984A>G	c.(1984-1986)Aca>Gca	p.T662A		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	662					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	GGAGCTGCTGTATCTCGGGTC	0.522													6	77					0	0	1	0	0	C	104432710	T	C	104432710	3	2	81	1	0	0	0	0	1	0	0	0	6824	1638	57	3	1391	3	GRIN3A	9	104432710	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	239544	104432710	36780721	7374	10990											
SMC2	10592	broad.mit.edu	37	9	106877012	106877012	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:106877012C>T	ENST00000286398.7	+	13	1861	c.1573C>T	c.(1573-1575)Ctt>Ttt	p.L525F	SMC2_ENST00000303219.8_Missense_Mutation_p.L525F|SMC2_ENST00000374793.3_Missense_Mutation_p.L525F|SMC2_ENST00000374787.3_Missense_Mutation_p.L525F	NM_001042551.1|NM_001265602.1|NM_006444.2	NP_001036016.1|NP_001252531.1|NP_006435.2	O95347	SMC2_HUMAN	structural maintenance of chromosomes 2	525	Flexible hinge.				cell division|mitotic chromosome condensation|symbiosis, encompassing mutualism through parasitism	condensin complex|cytoplasm|nuclear chromosome	ATP binding|protein heterodimerization activity			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						TGTGAAAGGACTTGTGGCTTC	0.353													7	57					0	0	1	0	0	T	106877012	C	T	106877012	3	4	81	1	0	0	0	0	1	0	0	0	14837	565	20	2	1619	2	SMC2	9	106877012	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2444302	106877012	34336419	7375	10991											
SMC2	10592	broad.mit.edu	37	9	106880543	106880543	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:106880543T>G	ENST00000286398.7	+	15	2171	c.1883T>G	c.(1882-1884)tTt>tGt	p.F628C	SMC2_ENST00000303219.8_Missense_Mutation_p.F628C|SMC2_ENST00000374793.3_Missense_Mutation_p.F628C|SMC2_ENST00000374787.3_Missense_Mutation_p.F628C	NM_001042551.1|NM_001265602.1|NM_006444.2	NP_001036016.1|NP_001252531.1|NP_006435.2	O95347	SMC2_HUMAN	structural maintenance of chromosomes 2	628	Flexible hinge.				cell division|mitotic chromosome condensation|symbiosis, encompassing mutualism through parasitism	condensin complex|cytoplasm|nuclear chromosome	ATP binding|protein heterodimerization activity			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						GGAACAACATTTGTTTGTGAC	0.418													9	92					0	0	1	0	0	G	106880543	T	G	106880543	3	3	81	1	0	0	0	0	1	0	0	0	14837	1841	64	5	1937	5	SMC2	9	106880543	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	3531	106880543	34332888	7376	10992											
SMC2	10592	broad.mit.edu	37	9	106887381	106887381	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:106887381C>T	ENST00000286398.7	+	18	2734	c.2446C>T	c.(2446-2448)Caa>Taa	p.Q816*	SMC2_ENST00000303219.8_Nonsense_Mutation_p.Q816*|SMC2_ENST00000374793.3_Nonsense_Mutation_p.Q816*|SMC2_ENST00000374787.3_Nonsense_Mutation_p.Q816*	NM_001042551.1|NM_001265602.1|NM_006444.2	NP_001036016.1|NP_001252531.1|NP_006435.2	O95347	SMC2_HUMAN	structural maintenance of chromosomes 2	816					cell division|mitotic chromosome condensation|symbiosis, encompassing mutualism through parasitism	condensin complex|cytoplasm|nuclear chromosome	ATP binding|protein heterodimerization activity			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						GAAAGAAAAACAACAGGTAAT	0.373													38	68					0	0	1	0	0	T	106887381	C	T	106887381	4	4	81	1	0	0	0	0	0	1	0	0	14837	479	17	2	2512	2	SMC2	9	106887381	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	6838	106887381	34326050	7377	10993											
OR13F1	138805	broad.mit.edu	37	9	107267193	107267193	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:107267193C>A	ENST00000334726.2	+	1	739	c.650C>A	c.(649-651)tCt>tAt	p.S217Y		NM_001004485.1	NP_001004485.1	Q8NGS4	O13F1_HUMAN	olfactory receptor, family 13, subfamily F, member 1	217					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						ATTTGTATCTCTTATGCATTT	0.458													17	195					1.99824e-07	2.33645e-07	1	1	0	A	107267193	C	A	107267193	3	1	81	1	0	0	0	0	1	0	0	0	10989	913	32	4	652	4	OR13F1	9	107267193	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	379812	107267193	33946238	7378	10994											
OR13C2	392376	broad.mit.edu	37	9	107367204	107367204	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:107367204G>A	ENST00000542196.1	-	1	747	c.705C>T	c.(703-705)agC>agT	p.S235S		NM_001004481.1	NP_001004481.1	Q8NGS9	O13C2_HUMAN	olfactory receptor, family 13, subfamily C, member 2	235					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						AGGAAGCTTTGCTTCTCCCCT	0.403													50	63					0	0	1	0	0	A	107367204	G	A	107367204	2	1	81	1	0	0	0	0	0	0	0	1	10982	1310	46	2		2	OR13C2	9	107367204	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	100011	107367204	33846227	7379	10995											
OR13C9	286362	broad.mit.edu	37	9	107380071	107380071	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:107380071T>G	ENST00000259362.1	-	1	414	c.415A>C	c.(415-417)Aat>Cat	p.N139H		NM_001001956.1	NP_001001956.1	Q8NGT0	O13C9_HUMAN	olfactory receptor, family 13, subfamily C, member 9	139					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(6)|lung(9)|prostate(1)|skin(4)	22						ACATAGGCATTCTTGCTCATG	0.488													37	49					0	0	1	0	0	G	107380071	T	G	107380071	3	3	81	1	0	0	0	0	1	0	0	0	10987	1783	62	5	544	5	OR13C9	9	107380071	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	12867	107380071	33833360	7380	10996											
NIPSNAP3B	55335	broad.mit.edu	37	9	107528737	107528737	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:107528737C>A	ENST00000374762.3	+	2	263	c.192C>A	c.(190-192)acC>acA	p.T64T	NIPSNAP3B_ENST00000461177.1_Intron	NM_018376.2	NP_060846.2	Q9BS92	NPS3B_HUMAN	nipsnap homolog 3B (C. elegans)	64										breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	11						ATCTTCGGACCTCTTACTCTG	0.343													6	147					0.00198382	0.00209725	1	1	0	A	107528737	C	A	107528737	2	1	81	1	0	0	0	0	0	0	0	1	10478	668	24	4		4	NIPSNAP3B	9	107528737	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	148666	107528737	33684694	7381	10997											
ABCA1	19	broad.mit.edu	37	9	107555451	107555451	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:107555451C>A	ENST00000374736.3	-	41	6031		c.e41+1			NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1						Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	AAAAAGCTCACCTGGGCCTGA	0.532													41	79					6.57855e-14	8.32541e-14	1	1	0	A	107555451	C	A	107555451	5	1	81	1	0	0	0	0	0	0	1	0	28	521	18	5	1188	5	ABCA1	9	107555451	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	26714	107555451	33657980	7382	10998											
ABCA1	19	broad.mit.edu	37	9	107581161	107581161	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:107581161C>T	ENST00000374736.3	-	23	3639	c.3245G>A	c.(3244-3246)cGc>cAc	p.R1082H		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	1082	ABC transporter 1.				Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	AATAATGGTGCGGCCTGCCAG	0.547													10	14					0	0	1	0	0	T	107581161	C	T	107581161	3	4	81	1	0	0	0	0	1	0	0	0	28	768	27	1	3652	1	ABCA1	9	107581161	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	25710	107581161	33632270	7383	10999											
SLC44A1	23446	broad.mit.edu	37	9	108110667	108110667	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:108110667G>T	ENST00000374720.3	+	5	682	c.435G>T	c.(433-435)aaG>aaT	p.K145N	SLC44A1_ENST00000374723.1_Missense_Mutation_p.K145N|SLC44A1_ENST00000374724.1_Missense_Mutation_p.K145N	NM_080546.3	NP_536856.2	Q8WWI5	CTL1_HUMAN	solute carrier family 44 (choline transporter), member 1	145						integral to membrane|mitochondrial outer membrane|plasma membrane	choline transmembrane transporter activity			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	38					Choline(DB00122)	ACAACCTAAAGCCTTCTGAAT	0.363													34	51					3.66082e-28	4.86891e-28	1	1	0	T	108110667	G	T	108110667	3	4	81	1	0	0	0	0	1	0	0	0	14690	962	34	4	453	4	SLC44A1	9	108110667	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	529506	108110667	33102764	7384	11000											
SLC44A1	23446	broad.mit.edu	37	9	108120657	108120657	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:108120657T>C	ENST00000374720.3	+	7	950	c.703T>C	c.(703-705)Tat>Cat	p.Y235H	SLC44A1_ENST00000374723.1_Missense_Mutation_p.Y235H|SLC44A1_ENST00000374724.1_Missense_Mutation_p.Y235H|SLC44A1_ENST00000343170.7_Missense_Mutation_p.Y27H	NM_080546.3	NP_536856.2	Q8WWI5	CTL1_HUMAN	solute carrier family 44 (choline transporter), member 1	235						integral to membrane|mitochondrial outer membrane|plasma membrane	choline transmembrane transporter activity			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	38					Choline(DB00122)	GATAATCAGGTATATATCAAG	0.333													41	59					0	0	1	0	0	C	108120657	T	C	108120657	3	2	81	1	0	0	0	0	1	0	0	0	14690	1638	57	3	729	3	SLC44A1	9	108120657	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	9990	108120657	33092774	7385	11001											
SLC44A1	23446	broad.mit.edu	37	9	108120689	108120689	+	Silent	SNP	G	G	A	rs146574269		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:108120689G>A	ENST00000374720.3	+	7	982	c.735G>A	c.(733-735)acG>acA	p.T245T	SLC44A1_ENST00000374723.1_Silent_p.T245T|SLC44A1_ENST00000374724.1_Silent_p.T245T|SLC44A1_ENST00000343170.7_Silent_p.T37T	NM_080546.3	NP_536856.2	Q8WWI5	CTL1_HUMAN	solute carrier family 44 (choline transporter), member 1	245						integral to membrane|mitochondrial outer membrane|plasma membrane	choline transmembrane transporter activity			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	38					Choline(DB00122)	GGATCTTAACGATTCTGGTCA	0.323													40	67					0	0	1	0	0	A	108120689	G	A	108120689	2	1	81	1	0	0	0	0	0	0	0	1	14690	1045	37	1		1	SLC44A1	9	108120689	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	32	108120689	33092742	7386	11002											
SLC44A1	23446	broad.mit.edu	37	9	108126892	108126892	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:108126892C>T	ENST00000374720.3	+	10	1391	c.1144C>T	c.(1144-1146)Cag>Tag	p.Q382*	SLC44A1_ENST00000374723.1_Nonsense_Mutation_p.Q382*|SLC44A1_ENST00000374724.1_Nonsense_Mutation_p.Q382*|SLC44A1_ENST00000343170.7_Nonsense_Mutation_p.Q174*	NM_080546.3	NP_536856.2	Q8WWI5	CTL1_HUMAN	solute carrier family 44 (choline transporter), member 1	382						integral to membrane|mitochondrial outer membrane|plasma membrane	choline transmembrane transporter activity			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	38					Choline(DB00122)	TGGGCCTCTGCAGTACATGTG	0.443													6	150					0	0	1	0	0	T	108126892	C	T	108126892	4	4	81	1	0	0	0	0	0	1	0	0	14690	711	25	2	1182	2	SLC44A1	9	108126892	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	6203	108126892	33086539	7387	11003											
FKTN	2218	broad.mit.edu	37	9	108380347	108380347	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:108380347C>T	ENST00000223528.2	+	8	1142	c.1018C>T	c.(1018-1020)Ctt>Ttt	p.L340F	FKTN_ENST00000357998.5_Missense_Mutation_p.L340F|FKTN_ENST00000602661.1_Missense_Mutation_p.L340F|FKTN_ENST00000448551.2_Missense_Mutation_p.L340F|FKTN_ENST00000540160.1_Intron	NM_006731.2	NP_006722.2	O75072	FKTN_HUMAN	fukutin	340					muscle organ development|negative regulation of cell proliferation|negative regulation of JNK cascade|nervous system development|regulation of protein glycosylation	cis-Golgi network|endoplasmic reticulum|extracellular space|Golgi membrane|integral to membrane|nucleus	transferase activity			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	25						GGATGCAGGACTTCCGCTCAA	0.333													16	24					0	0	1	0	0	T	108380347	C	T	108380347	3	4	81	1	0	0	0	0	1	0	0	0	5952	565	20	2	1044	2	FKTN	9	108380347	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	253455	108380347	32833084	7388	11004											
FKTN	2218	broad.mit.edu	37	9	108382276	108382276	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:108382276T>A	ENST00000223528.2	+	9	1230	c.1106T>A	c.(1105-1107)tTc>tAc	p.F369Y	FKTN_ENST00000357998.5_Missense_Mutation_p.F369Y|FKTN_ENST00000602661.1_Missense_Mutation_p.F369Y|FKTN_ENST00000448551.2_Missense_Mutation_p.F369Y|FKTN_ENST00000540160.1_Intron	NM_006731.2	NP_006722.2	O75072	FKTN_HUMAN	fukutin	369					muscle organ development|negative regulation of cell proliferation|negative regulation of JNK cascade|nervous system development|regulation of protein glycosylation	cis-Golgi network|endoplasmic reticulum|extracellular space|Golgi membrane|integral to membrane|nucleus	transferase activity			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	25						GATGTTTTTTTCTTCTATGAA	0.353													8	36					0	0	1	0	0	A	108382276	T	A	108382276	3	1	81	1	0	0	0	0	1	0	0	0	5952	1783	62	5	1136	5	FKTN	9	108382276	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	1929	108382276	32831155	7389	11005											
TMEM38B	55151	broad.mit.edu	37	9	108483913	108483913	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:108483913G>A	ENST00000374688.1	+	3	913	c.203G>A	c.(202-204)aGa>aAa	p.R68K	TMEM38B_ENST00000374692.3_Missense_Mutation_p.R122K			Q9NVV0	TM38B_HUMAN	transmembrane protein 38B	122						integral to membrane|nuclear membrane|sarcoplasmic reticulum membrane	potassium channel activity			kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	13						GAAGTGACCAGAACTTGGAAA	0.418													20	43					0	0	1	0	0	A	108483913	G	A	108483913	3	1	81	1	0	0	0	0	1	0	0	0	16220	942	33	2	375	2	TMEM38B	9	108483913	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	101637	108483913	32729518	7390	11006											
TMEM38B	55151	broad.mit.edu	37	9	108536258	108536258	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:108536258G>T	ENST00000374688.1	+	6	1321	c.611G>T	c.(610-612)aGt>aTt	p.S204I	TMEM38B_ENST00000374692.3_Missense_Mutation_p.S258I			Q9NVV0	TM38B_HUMAN	transmembrane protein 38B	258						integral to membrane|nuclear membrane|sarcoplasmic reticulum membrane	potassium channel activity			kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	13						GAGAAGAAAAGTGAAGCAAAG	0.413													27	65					0.000117367	0.000128867	1	1	0	T	108536258	G	T	108536258	3	4	81	1	0	0	0	0	1	0	0	0	16220	1029	36	4	795	4	TMEM38B	9	108536258	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	52345	108536258	32677173	7391	11007											
ZNF462	58499	broad.mit.edu	37	9	109686747	109686747	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:109686747A>G	ENST00000277225.5	+	3	843	c.554A>G	c.(553-555)cAc>cGc	p.H185R	ZNF462_ENST00000457913.1_Missense_Mutation_p.H185R			Q96JM2	ZN462_HUMAN	zinc finger protein 462	185					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						AAGATGTATCACAAAAACAAT	0.488													16	51					0	0	1	0	0	G	109686747	A	G	109686747	3	3	81	1	0	0	0	0	1	0	0	0	17983	159	6	3	560	3	ZNF462	9	109686747	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	1150489	109686747	31526684	7392	11008											
ZNF462	58499	broad.mit.edu	37	9	109687614	109687614	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:109687614A>G	ENST00000277225.5	+	3	1710	c.1421A>G	c.(1420-1422)gAa>gGa	p.E474G	ZNF462_ENST00000457913.1_Missense_Mutation_p.E474G			Q96JM2	ZN462_HUMAN	zinc finger protein 462	474					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						AAATGTGACGAATGTCCGTTT	0.468													17	44					0	0	1	0	0	G	109687614	A	G	109687614	3	3	81	1	0	0	0	0	1	0	0	0	17983	246	9	3	1427	3	ZNF462	9	109687614	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	867	109687614	31525817	7393	11009											
ZNF462	58499	broad.mit.edu	37	9	109689094	109689094	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:109689094G>T	ENST00000277225.5	+	3	3190	c.2901G>T	c.(2899-2901)caG>caT	p.Q967H	ZNF462_ENST00000457913.1_Missense_Mutation_p.Q967H			Q96JM2	ZN462_HUMAN	zinc finger protein 462	967					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						TGGAGCAGCAGGAAGGGCTGA	0.512													4	57					0.150653	0.152522	1	1	0	T	109689094	G	T	109689094	3	4	81	1	0	0	0	0	1	0	0	0	17983	991	35	4	2907	4	ZNF462	9	109689094	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1480	109689094	31524337	7394	11010											
ZNF462	58499	broad.mit.edu	37	9	109689801	109689801	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:109689801G>T	ENST00000277225.5	+	3	3897	c.3608G>T	c.(3607-3609)cGg>cTg	p.R1203L	ZNF462_ENST00000441147.2_Missense_Mutation_p.R48L|ZNF462_ENST00000457913.1_Missense_Mutation_p.R1203L			Q96JM2	ZN462_HUMAN	zinc finger protein 462	1203					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						TATGGGAACCGGACGGTCAAA	0.532													145	218					2.58994e-81	3.49232e-81	1	1	0	T	109689801	G	T	109689801	3	4	81	1	0	0	0	0	1	0	0	0	17983	1116	39	5	3614	5	ZNF462	9	109689801	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	707	109689801	31523630	7395	11011											
ZNF462	58499	broad.mit.edu	37	9	109690567	109690567	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:109690567A>G	ENST00000277225.5	+	3	4663	c.4374A>G	c.(4372-4374)ctA>ctG	p.L1458L	ZNF462_ENST00000441147.2_Silent_p.L303L|ZNF462_ENST00000457913.1_Silent_p.L1458L			Q96JM2	ZN462_HUMAN	zinc finger protein 462	1458					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						GCCTGCAGCTAGCTTCAGCCA	0.522													4	15					0	0	1	0	0	G	109690567	A	G	109690567	2	3	81	1	0	0	0	0	0	0	0	1	17983	407	15	3		3	ZNF462	9	109690567	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	766	109690567	31522864	7396	11012											
ZNF462	58499	broad.mit.edu	37	9	109690956	109690956	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:109690956C>T	ENST00000277225.5	+	3	5052	c.4763C>T	c.(4762-4764)aCt>aTt	p.T1588I	ZNF462_ENST00000441147.2_Missense_Mutation_p.T433I|ZNF462_ENST00000457913.1_Missense_Mutation_p.T1588I			Q96JM2	ZN462_HUMAN	zinc finger protein 462	1588					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						ACACACGGCACTTTGGAGAAA	0.527													20	39					0	0	1	0	0	T	109690956	C	T	109690956	3	4	81	1	0	0	0	0	1	0	0	0	17983	565	20	2	4769	2	ZNF462	9	109690956	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	389	109690956	31522475	7397	11013											
RAD23B	5887	broad.mit.edu	37	9	110086280	110086280	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:110086280G>T	ENST00000358015.3	+	8	1278	c.927G>T	c.(925-927)gaG>gaT	p.E309D	RAD23B_ENST00000416373.2_Missense_Mutation_p.E237D	NM_001244713.1|NM_002874.4	NP_001231642.1|NP_002865.1	P54727	RD23B_HUMAN	RAD23 homolog B (S. cerevisiae)	309	STI1.				nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|regulation of proteasomal ubiquitin-dependent protein catabolic process	cytoplasm|nucleoplasm|proteasome complex|XPC complex	damaged DNA binding|polyubiquitin binding|single-stranded DNA binding			breast(3)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						TAGGTCGAGAGAATCCTCAAT	0.413								Direct reversal of damage;Nucleotide excision repair (NER)					6	81					0.00307968	0.00324365	1	1	0	T	110086280	G	T	110086280	3	4	81	1	0	0	0	0	1	0	0	0	13035	933	33	4	957	4	RAD23B	9	110086280	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	395324	110086280	31127151	7398	11014											
KLF4	9314	broad.mit.edu	37	9	110250325	110250325	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:110250325G>A	ENST00000374672.4	-	3	823	c.350C>T	c.(349-351)cCg>cTg	p.P117L		NM_004235.4	NP_004226.3	O43474	KLF4_HUMAN	Kruppel-like factor 4 (gut)	117					fat cell differentiation|mesodermal cell fate determination|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|stem cell maintenance|transcription from RNA polymerase II promoter	nucleus	RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor recruiting transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(5)|large_intestine(1)|lung(3)|pancreas(1)|prostate(2)	16						CACTGACTCCGGAGGATGGGT	0.647													8	11					0	0	1	0	0	A	110250325	G	A	110250325	3	1	81	1	0	0	0	0	1	0	0	0	8391	1116	39	1	1101	1	KLF4	9	110250325	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	164045	110250325	30963106	7399	11015											
ACTL7B	10880	broad.mit.edu	37	9	111617534	111617534	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:111617534C>T	ENST00000374667.3	-	1	1705	c.677G>A	c.(676-678)gGg>gAg	p.G226E		NM_006686.3	NP_006677.1	Q9Y614	ACL7B_HUMAN	actin-like 7B	226						actin cytoskeleton|cytoplasm	structural constituent of cytoskeleton			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						GAGGTCACCCCCAGCGTAGTC	0.647													14	17					0	0	1	0	0	T	111617534	C	T	111617534	3	4	81	1	0	0	0	0	1	0	0	0	201	623	22	2	574	2	ACTL7B	9	111617534	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1367209	111617534	29595897	7400	11016											
ACTL7B	10880	broad.mit.edu	37	9	111617633	111617633	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:111617633G>A	ENST00000374667.3	-	1	1606	c.578C>T	c.(577-579)tCg>tTg	p.S193L		NM_006686.3	NP_006677.1	Q9Y614	ACL7B_HUMAN	actin-like 7B	193						actin cytoskeleton|cytoplasm	structural constituent of cytoskeleton			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						CACCAGCCCCGAGGTCTTGCC	0.662													5	32					0	0	1	0	0	A	111617633	G	A	111617633	3	1	81	1	0	0	0	0	1	0	0	0	201	1059	37	1	673	1	ACTL7B	9	111617633	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	99	111617633	29595798	7401	11017											
IKBKAP	8518	broad.mit.edu	37	9	111651668	111651668	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:111651668G>A	ENST00000374647.5	-	29	3473	c.3166C>T	c.(3166-3168)Ctg>Ttg	p.L1056L	IKBKAP_ENST00000537196.1_Silent_p.L707L|IKBKAP_ENST00000467959.1_5'UTR	NM_003640.3	NP_003631.2	O95163	ELP1_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein	1056					immune response|protein complex assembly|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|nucleolus|transcription elongation factor complex	phosphorylase kinase regulator activity|protein binding|signal transducer activity			NS(2)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						TGCTCAACCAGCTTTCCTGTA	0.413													7	98					0	0	1	0	0	A	111651668	G	A	111651668	2	1	81	1	0	0	0	0	0	0	0	1	7654	962	34	2		2	IKBKAP	9	111651668	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	34035	111651668	29561763	7402	11018											
IKBKAP	8518	broad.mit.edu	37	9	111674654	111674654	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:111674654T>C	ENST00000374647.5	-	11	1386	c.1079A>G	c.(1078-1080)cAt>cGt	p.H360R	IKBKAP_ENST00000537196.1_Missense_Mutation_p.H11R	NM_003640.3	NP_003631.2	O95163	ELP1_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein	360					immune response|protein complex assembly|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|nucleolus|transcription elongation factor complex	phosphorylase kinase regulator activity|protein binding|signal transducer activity			NS(2)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						ACAGAGAACATGCAGCCGGTA	0.512													6	35					0	0	1	0	0	C	111674654	T	C	111674654	3	2	81	1	0	0	0	0	1	0	0	0	7654	1464	51	3	3027	3	IKBKAP	9	111674654	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	22986	111674654	29538777	7403	11019											
CTNNAL1	8727	broad.mit.edu	37	9	111732743	111732743	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:111732743G>A	ENST00000374595.4	-	10	1458	c.1379C>T	c.(1378-1380)aCa>aTa	p.T460I	CTNNAL1_ENST00000325580.6_Intron|CTNNAL1_ENST00000325551.4_Missense_Mutation_p.T460I			Q9UBT7	CTNL1_HUMAN	catenin (cadherin-associated protein), alpha-like 1	460					cell adhesion|Rho protein signal transduction	actin cytoskeleton|cytosol|plasma membrane	cadherin binding|structural molecule activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(4)|urinary_tract(2)	25				STAD - Stomach adenocarcinoma(157;0.0768)		CAGAGGTTCTGTCCCAGATAT	0.398													6	29					0	0	1	0	0	A	111732743	G	A	111732743	3	1	81	1	0	0	0	0	1	0	0	0	4039	1377	48	2	865	2	CTNNAL1	9	111732743	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	58089	111732743	29480688	7404	11020											
EPB41L4B	54566	broad.mit.edu	37	9	111979388	111979388	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:111979388G>A	ENST00000374566.3	-	16	1964	c.1447C>T	c.(1447-1449)Cgg>Tgg	p.R483W		NM_019114.3	NP_061987.3	Q9H329	E41LB_HUMAN	erythrocyte membrane protein band 4.1 like 4B	483						cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|structural constituent of cytoskeleton			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						AAAGGCAACCGGTCCGAGCTG	0.567													14	28					0	0	1	0	0	A	111979388	G	A	111979388	3	1	81	1	0	0	0	0	1	0	0	0	5184	1115	39	1	1299	1	EPB41L4B	9	111979388	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	246645	111979388	29234043	7405	11021											
PTPN3	5774	broad.mit.edu	37	9	112166788	112166788	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:112166788C>A	ENST00000412145.1	-	14	4053	c.1500G>T	c.(1498-1500)gaG>gaT	p.E500D	PTPN3_ENST00000374541.2_Missense_Mutation_p.E631D|PTPN3_ENST00000394827.3_Missense_Mutation_p.E99D|PTPN3_ENST00000262539.3_Missense_Mutation_p.E477D|PTPN3_ENST00000446349.1_Missense_Mutation_p.E455D	NM_001145369.1|NM_001145371.1	NP_001138841.1|NP_001138843.1	P26045	PTN3_HUMAN	protein tyrosine phosphatase, non-receptor type 3	631					negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle	cytoplasm|cytoskeleton|internal side of plasma membrane	ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						CCATGGATCCCTCCAAAGTGT	0.552													8	57					0.27861	0.279815	1	1	0	A	112166788	C	A	112166788	3	1	81	1	0	0	0	0	1	0	0	0	12841	680	24	4	880	4	PTPN3	9	112166788	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	187400	112166788	29046643	7406	11022											
PTPN3	5774	broad.mit.edu	37	9	112170621	112170621	+	Silent	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:112170621T>G	ENST00000412145.1	-	12	3775	c.1222A>C	c.(1222-1224)Agg>Cgg	p.R408R	PTPN3_ENST00000374541.2_Silent_p.R539R|PTPN3_ENST00000394827.3_Silent_p.R7R|PTPN3_ENST00000262539.3_Silent_p.R385R|PTPN3_ENST00000446349.1_Silent_p.R363R	NM_001145369.1|NM_001145371.1	NP_001138841.1|NP_001138843.1	P26045	PTN3_HUMAN	protein tyrosine phosphatase, non-receptor type 3	539					negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle	cytoplasm|cytoskeleton|internal side of plasma membrane	ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						GGGTTTATCCTTGATACCACA	0.338													5	65					0	0	1	0	0	G	112170621	T	G	112170621	2	3	81	1	0	0	0	0	0	0	0	1	12841	1608	56	5		5	PTPN3	9	112170621	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	3833	112170621	29042810	7407	11023											
PALM2-AKAP2	445815	broad.mit.edu	37	9	112899207	112899207	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:112899207C>T	ENST00000374530.3	+	8	1563	c.1383C>T	c.(1381-1383)gcC>gcT	p.A461A	AKAP2_ENST00000434623.2_Silent_p.A319A|AKAP2_ENST00000555236.1_Silent_p.A461A|PALM2-AKAP2_ENST00000302798.7_Silent_p.A461A|AKAP2_ENST00000259318.7_Silent_p.A230A|AKAP2_ENST00000374525.1_Silent_p.A319A|AKAP2_ENST00000510514.5_Silent_p.A461A	NM_007203.4|NM_147150.2	NP_009134.1|NP_671492.1	Q9Y2D5	AKAP2_HUMAN		230							enzyme binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	44						GCAGCCAGGCCGTCAAGAAGA	0.512													12	32					0	0	1	0	0	T	112899207	C	T	112899207	2	4	81	1	0	0	0	0	0	0	0	1	11457	639	23	1		1	PALM2-AKAP2	9	112899207	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	728586	112899207	28314224	7408	11024											
PALM2-AKAP2	445815	broad.mit.edu	37	9	112899576	112899576	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:112899576G>A	ENST00000374530.3	+	8	1932	c.1752G>A	c.(1750-1752)aaG>aaA	p.K584K	AKAP2_ENST00000434623.2_Silent_p.K442K|AKAP2_ENST00000555236.1_Silent_p.K584K|PALM2-AKAP2_ENST00000302798.7_Silent_p.K584K|AKAP2_ENST00000259318.7_Silent_p.K353K|AKAP2_ENST00000374525.1_Silent_p.K442K|AKAP2_ENST00000510514.5_Silent_p.K584K	NM_007203.4|NM_147150.2	NP_009134.1|NP_671492.1	Q9Y2D5	AKAP2_HUMAN		353							enzyme binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	44						TCTCCATCAAGCCTTTCTACA	0.542													16	31					0	0	1	0	0	A	112899576	G	A	112899576	2	1	81	1	0	0	0	0	0	0	0	1	11457	962	34	2		2	PALM2-AKAP2	9	112899576	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	369	112899576	28313855	7409	11025											
PALM2-AKAP2	445815	broad.mit.edu	37	9	112899787	112899787	+	Missense_Mutation	SNP	C	C	T	rs150767444		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:112899787C>T	ENST00000374530.3	+	8	2143	c.1963C>T	c.(1963-1965)Cgt>Tgt	p.R655C	AKAP2_ENST00000434623.2_Missense_Mutation_p.R513C|AKAP2_ENST00000555236.1_Missense_Mutation_p.R655C|PALM2-AKAP2_ENST00000302798.7_Missense_Mutation_p.R655C|AKAP2_ENST00000259318.7_Missense_Mutation_p.R424C|AKAP2_ENST00000374525.1_Missense_Mutation_p.R513C|AKAP2_ENST00000510514.5_Missense_Mutation_p.R655C	NM_007203.4|NM_147150.2	NP_009134.1|NP_671492.1	Q9Y2D5	AKAP2_HUMAN		424							enzyme binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	44						GCCTTCTAAACGTGGGCCCTT	0.577													41	41					0	0	1	0	0	T	112899787	C	T	112899787	3	4	81	1	0	0	0	0	1	0	0	0	11457	536	19	1	1993	1	PALM2-AKAP2	9	112899787	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	211	112899787	28313644	7410	11026											
SVEP1	79987	broad.mit.edu	37	9	113132260	113132260	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:113132260C>T	ENST00000401783.2	-	47	10973	c.10637G>A	c.(10636-10638)tGt>tAt	p.C3546Y	SVEP1_ENST00000297826.5_Missense_Mutation_p.C1472Y|SVEP1_ENST00000374469.1_Missense_Mutation_p.C3523Y	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	3546	EGF-like 9.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						TGGTCTTACACATTTTCCACC	0.368													8	9					0	0	1	0	0	T	113132260	C	T	113132260	3	4	81	1	0	0	0	0	1	0	0	0	15476	478	17	2	86	2	SVEP1	9	113132260	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	232473	113132260	28081171	7411	11027											
SVEP1	79987	broad.mit.edu	37	9	113168817	113168817	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:113168817A>C	ENST00000401783.2	-	38	9399	c.9063T>G	c.(9061-9063)gaT>gaG	p.D3021E	SVEP1_ENST00000297826.5_Missense_Mutation_p.D947E|SVEP1_ENST00000374469.1_Missense_Mutation_p.D2998E	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	3021	Sushi 27.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						CACAGTCAAAATCTGTCCCAT	0.522													11	13					0	0	1	0	0	C	113168817	A	C	113168817	3	2	81	1	0	0	0	0	1	0	0	0	15476	98	4	4	1696	4	SVEP1	9	113168817	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	36557	113168817	28044614	7412	11028											
SVEP1	79987	broad.mit.edu	37	9	113170044	113170044	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:113170044G>A	ENST00000401783.2	-	38	8172	c.7836C>T	c.(7834-7836)gaC>gaT	p.D2612D	SVEP1_ENST00000297826.5_Silent_p.D538D|SVEP1_ENST00000374469.1_Silent_p.D2589D	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	2612					cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						GGAGGCCACAGTCTATTGGCA	0.463													68	108					0	0	1	0	0	A	113170044	G	A	113170044	2	1	81	1	0	0	0	0	0	0	0	1	15476	1020	36	2		2	SVEP1	9	113170044	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1227	113170044	28043387	7413	11029											
SVEP1	79987	broad.mit.edu	37	9	113191537	113191537	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:113191537G>A	ENST00000401783.2	-	35	6029	c.5693C>T	c.(5692-5694)cCt>cTt	p.P1898L	SVEP1_ENST00000374469.1_Missense_Mutation_p.P1875L	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	1898	Sushi 8.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						TTCACACACAGGAGGGGAATG	0.378													3	4					0	0	1	0	0	A	113191537	G	A	113191537	3	1	81	1	0	0	0	0	1	0	0	0	15476	1000	35	2	5078	2	SVEP1	9	113191537	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	21493	113191537	28021894	7414	11030											
SVEP1	79987	broad.mit.edu	37	9	113212497	113212497	+	Silent	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:113212497T>G	ENST00000401783.2	-	24	4281	c.3945A>C	c.(3943-3945)ccA>ccC	p.P1315P	SVEP1_ENST00000374469.1_Silent_p.P1292P|SVEP1_ENST00000302728.8_Silent_p.P1315P|SVEP1_ENST00000467821.1_5'UTR	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	1315	EGF-like 4; calcium-binding (Potential).				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						TATTTAAGCATGGGTTTGACT	0.468													40	54					0	0	1	0	0	G	113212497	T	G	113212497	2	3	81	1	0	0	0	0	0	0	0	1	15476	1451	51	4		4	SVEP1	9	113212497	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	20960	113212497	28000934	7415	11031											
SVEP1	79987	broad.mit.edu	37	9	113234560	113234560	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:113234560G>A	ENST00000401783.2	-	15	2979	c.2643C>T	c.(2641-2643)taC>taT	p.Y881Y	SVEP1_ENST00000374469.1_Silent_p.Y858Y|SVEP1_ENST00000302728.8_Silent_p.Y881Y|SVEP1_ENST00000467821.1_5'UTR	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	881					cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						GGAAGTCATCGTAAGAGTAAT	0.478													32	50					0	0	1	0	0	A	113234560	G	A	113234560	2	1	81	1	0	0	0	0	0	0	0	1	15476	1140	40	1		1	SVEP1	9	113234560	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	22063	113234560	27978871	7416	11032											
SVEP1	79987	broad.mit.edu	37	9	113312385	113312385	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:113312385C>A	ENST00000401783.2	-	2	868		c.e2-1		SVEP1_ENST00000374469.1_Splice_Site|SVEP1_ENST00000374461.1_Splice_Site|SVEP1_ENST00000302728.8_Splice_Site	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1						cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						GAAGAATTTGCTGTAATGAAA	0.393													22	190					5.35047e-06	6.0746e-06	1	1	0	A	113312385	C	A	113312385	5	1	81	1	0	0	0	0	0	0	1	0	15476	811	28	4	10372	4	SVEP1	9	113312385	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	77825	113312385	27901046	7417	11033											
MUSK	4593	broad.mit.edu	37	9	113509925	113509925	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:113509925C>A	ENST00000416899.2	+	7	884	c.758C>A	c.(757-759)tCt>tAt	p.S253Y	MUSK_ENST00000374448.4_Missense_Mutation_p.S253Y|MUSK_ENST00000189978.5_Missense_Mutation_p.S253Y			O15146	MUSK_HUMAN	muscle, skeletal, receptor tyrosine kinase	253	Ig-like 3.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						TGTCAGGTTTCTTCTGGGTCC	0.393													60	75					3.39796e-24	4.48376e-24	1	1	0	A	113509925	C	A	113509925	3	1	81	1	0	0	0	0	1	0	0	0	10037	913	32	4	818	4	MUSK	9	113509925	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	197540	113509925	27703506	7418	11034											
OR2K2	26248	broad.mit.edu	37	9	114089774	114089774	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:114089774C>T	ENST00000374428.1	-	1	1026	c.1027G>A	c.(1027-1029)Gaa>Aaa	p.E343K	OR2K2_ENST00000302681.1_Missense_Mutation_p.E314K			Q8NGT1	OR2K2_HUMAN	olfactory receptor, family 2, subfamily K, member 2	343					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.E314K(1)|p.E343K(1)		breast(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)	20						CAGAGATGTTCGTGTGTTTGA	0.408													20	41					0	0	1	0	0	T	114089774	C	T	114089774	3	4	81	1	0	0	0	0	1	0	0	0	11053	893	31	1	13	1	OR2K2	9	114089774	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	579849	114089774	27123657	7419	11035											
KIAA0368	23392	broad.mit.edu	37	9	114154072	114154072	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:114154072A>G	ENST00000259335.4	-	30	3658	c.3659T>C	c.(3658-3660)gTa>gCa	p.V1220A	KIAA0368_ENST00000338205.5_Missense_Mutation_p.V1042A|KIAA0368_ENST00000374378.3_5'UTR	NM_001080398.1	NP_001073867.1			KIAA0368											NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						CCCTTGAAATACCACTGTCTC	0.338													5	12					0	0	1	0	0	G	114154072	A	G	114154072	3	3	81	1	0	0	0	0	1	0	0	0	8213	391	14	3	2482	3	KIAA0368	9	114154072	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	64298	114154072	27059359	7420	11036											
KIAA0368	23392	broad.mit.edu	37	9	114176796	114176796	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:114176796C>A	ENST00000259335.4	-	20	2433	c.2434G>T	c.(2434-2436)Gca>Tca	p.A812S	KIAA0368_ENST00000338205.5_Missense_Mutation_p.A634S	NM_001080398.1	NP_001073867.1			KIAA0368											NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						GATGAGGGTGCCATCTGCCCG	0.537													28	64					1.42536e-11	1.7684e-11	1	1	0	A	114176796	C	A	114176796	3	1	81	1	0	0	0	0	1	0	0	0	8213	739	26	5	3747	5	KIAA0368	9	114176796	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	22724	114176796	27036635	7421	11037											
KIAA0368	23392	broad.mit.edu	37	9	114190321	114190321	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:114190321C>T	ENST00000259335.4	-	11	1584		c.e11+1		KIAA0368_ENST00000338205.5_Splice_Site	NM_001080398.1	NP_001073867.1			KIAA0368											NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						AAACAAATTACCTGAATGTTG	0.408													15	13					0	0	1	0	0	T	114190321	C	T	114190321	5	4	81	1	0	0	0	0	0	0	1	0	8213	521	18	2	4632	2	KIAA0368	9	114190321	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	13525	114190321	27023110	7422	11038											
KIAA0368	23392	broad.mit.edu	37	9	114195561	114195561	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:114195561C>T	ENST00000259335.4	-	9	1333	c.1334G>A	c.(1333-1335)cGc>cAc	p.R445H	KIAA0368_ENST00000338205.5_Missense_Mutation_p.R267H	NM_001080398.1	NP_001073867.1			KIAA0368											NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						CACACTGTGGCGTGTATCACT	0.423													27	27					0	0	1	0	0	T	114195561	C	T	114195561	3	4	81	1	0	0	0	0	1	0	0	0	8213	768	27	1	4891	1	KIAA0368	9	114195561	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	5240	114195561	27017870	7423	11039											
ZNF483	158399	broad.mit.edu	37	9	114289834	114289834	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:114289834G>A	ENST00000309235.5	+	2	317	c.159G>A	c.(157-159)caG>caA	p.Q53Q	ZNF483_ENST00000355824.3_Silent_p.Q53Q|ZNF483_ENST00000358151.4_Silent_p.Q53Q|ZNF483_ENST00000374374.3_Silent_p.Q53Q	NM_133464.2	NP_597721.2	Q8TF39	ZN483_HUMAN	zinc finger protein 483	53	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(11)|ovary(1)|skin(5)	31						CTTTCAGACAGAGGTTTAGGT	0.473													27	48					0	0	1	0	0	A	114289834	G	A	114289834	2	1	81	1	0	0	0	0	0	0	0	1	17993	933	33	2		2	ZNF483	9	114289834	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	94273	114289834	26923597	7424	11040											
ZNF483	158399	broad.mit.edu	37	9	114304804	114304804	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:114304804G>A	ENST00000309235.5	+	6	1747	c.1589G>A	c.(1588-1590)aGa>aAa	p.R530K	ZNF483_ENST00000358151.4_Intron	NM_133464.2	NP_597721.2	Q8TF39	ZN483_HUMAN	zinc finger protein 483	530					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(11)|ovary(1)|skin(5)	31						GACTGTGGGAGACCCTTTAGT	0.388													4	73					0	0	1	0	0	A	114304804	G	A	114304804	3	1	81	1	0	0	0	0	1	0	0	0	17993	942	33	2	1607	2	ZNF483	9	114304804	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	14970	114304804	26908627	7425	11041											
C9orf84	158401	broad.mit.edu	37	9	114454223	114454223	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:114454223G>T	ENST00000394779.3	-	23	3969	c.3725C>A	c.(3724-3726)cCt>cAt	p.P1242H	C9orf84_ENST00000318737.4_Missense_Mutation_p.P1281H|C9orf84_ENST00000394777.4_Missense_Mutation_p.P1207H|C9orf84_ENST00000374287.3_Missense_Mutation_p.P1281H	NM_001080551.1	NP_001074020.1	Q5VXU9	CI084_HUMAN	chromosome 9 open reading frame 84	1281										breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						TGAAAAGATAGGGTCCGATAC	0.383													4	48					2.56e-06	2.92664e-06	1	1	0	T	114454223	G	T	114454223	3	4	81	1	0	0	0	0	1	0	0	0	2518	1000	35	4	500	4	C9orf84	9	114454223	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	149419	114454223	26759208	7426	11042											
C9orf84	158401	broad.mit.edu	37	9	114456636	114456636	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:114456636delT	ENST00000394779.3	-	21	3125	c.2881delA	c.(2881-2883)attfs	p.I961fs	C9orf84_ENST00000374287.3_Frame_Shift_Del_p.I1000fs|C9orf84_ENST00000394777.4_Frame_Shift_Del_p.I926fs|C9orf84_ENST00000318737.4_Frame_Shift_Del_p.I1000fs	NM_001080551.1	NP_001074020.1	Q5VXU9	CI084_HUMAN	chromosome 9 open reading frame 84	1000										breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						CCTGGGGCAATTATAAGCTAA	0.294													30	308	---	---	---	---						-	114456636	T	-	114456636	7	5	81	1	0	1	0	1	0	0	0	0	2518	1493	52	0	1352	0	C9orf84	9	114456636	Frame_Shift_Del	DEL	T	TCGA-DU-6392-01A-11D-1705-08	2413	114456636	26756795	7427	11043											
C9orf84	158401	broad.mit.edu	37	9	114467552	114467552	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:114467552C>T	ENST00000394779.3	-	17	2765	c.2521G>A	c.(2521-2523)Gac>Aac	p.D841N	C9orf84_ENST00000318737.4_Missense_Mutation_p.D880N|C9orf84_ENST00000394777.4_Missense_Mutation_p.D806N|C9orf84_ENST00000374287.3_Missense_Mutation_p.D880N	NM_001080551.1	NP_001074020.1	Q5VXU9	CI084_HUMAN	chromosome 9 open reading frame 84	880										breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						TGAAGTATGTCTGGAGTATTA	0.338													11	43					0	0	1	0	0	T	114467552	C	T	114467552	3	4	81	1	0	0	0	0	1	0	0	0	2518	913	32	2	1728	2	C9orf84	9	114467552	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	10916	114467552	26745879	7428	11044											
C9orf84	158401	broad.mit.edu	37	9	114518719	114518719	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:114518719G>T	ENST00000394779.3	-	4	683	c.439C>A	c.(439-441)Cca>Aca	p.P147T	C9orf84_ENST00000374283.5_Missense_Mutation_p.P250T|C9orf84_ENST00000318737.4_Missense_Mutation_p.P186T|C9orf84_ENST00000394777.4_Missense_Mutation_p.P147T|C9orf84_ENST00000374287.3_Missense_Mutation_p.P186T	NM_001080551.1	NP_001074020.1	Q5VXU9	CI084_HUMAN	chromosome 9 open reading frame 84	186										breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						TTGAGGCTTGGAGGTATTAAG	0.308													8	56					1.06961e-07	1.25755e-07	1	1	0	T	114518719	G	T	114518719	3	4	81	1	0	0	0	0	1	0	0	0	2518	1174	41	5	3862	5	C9orf84	9	114518719	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	51167	114518719	26694712	7429	11045											
C9orf84	158401	broad.mit.edu	37	9	114543212	114543212	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:114543212C>A	ENST00000374287.3	-	4	323	c.63G>T	c.(61-63)gaG>gaT	p.E21D	C9orf84_ENST00000374283.5_Missense_Mutation_p.E85D|C9orf84_ENST00000318737.4_Missense_Mutation_p.E21D			Q5VXU9	CI084_HUMAN	chromosome 9 open reading frame 84	21										breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						ATACATACTTCTCAAGGAAAT	0.368													5	45					0.014758	0.0152304	1	1	0	A	114543212	C	A	114543212	3	1	81	1	0	0	0	0	1	0	0	0	2518	912	32	4	4508	4	C9orf84	9	114543212	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	24493	114543212	26670219	7430	11046											
UGCG	7357	broad.mit.edu	37	9	114688752	114688752	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:114688752G>T	ENST00000374279.3	+	5	984	c.534G>T	c.(532-534)caG>caT	p.Q178H	UGCG_ENST00000495085.1_3'UTR	NM_003358.1	NP_003349.1	Q16739	CEGT_HUMAN	UDP-glucose ceramide glucosyltransferase	178					epidermis development|glucosylceramide biosynthetic process	Golgi membrane|integral to membrane|membrane fraction	ceramide glucosyltransferase activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|ovary(1)|urinary_tract(1)	12				OV - Ovarian serous cystadenocarcinoma(323;0.0433)	Miglustat(DB00419)	CAGACAGACAGGGCTTTGCTG	0.443													5	56					5.9392e-07	6.87481e-07	1	1	0	T	114688752	G	T	114688752	3	4	81	1	0	0	0	0	1	0	0	0	16999	991	35	4	552	4	UGCG	9	114688752	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	145540	114688752	26524679	7431	11047											
UGCG	7357	broad.mit.edu	37	9	114695147	114695147	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:114695147C>T	ENST00000374279.3	+	9	1505	c.1055C>T	c.(1054-1056)gCc>gTc	p.A352V		NM_003358.1	NP_003349.1	Q16739	CEGT_HUMAN	UDP-glucose ceramide glucosyltransferase	352					epidermis development|glucosylceramide biosynthetic process	Golgi membrane|integral to membrane|membrane fraction	ceramide glucosyltransferase activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|ovary(1)|urinary_tract(1)	12				OV - Ovarian serous cystadenocarcinoma(323;0.0433)	Miglustat(DB00419)	TATGCAGTCGCCTGGTTCATC	0.393													37	91					0	0	1	0	0	T	114695147	C	T	114695147	3	4	81	1	0	0	0	0	1	0	0	0	16999	739	26	2	1089	2	UGCG	9	114695147	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	6395	114695147	26518284	7432	11048											
SUSD1	64420	broad.mit.edu	37	9	114860832	114860832	+	Silent	SNP	C	C	T	rs139934700	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:114860832C>T	ENST00000374270.3	-	10	1564	c.1392G>A	c.(1390-1392)acG>acA	p.T464T	SUSD1_ENST00000374264.2_Silent_p.T464T|SUSD1_ENST00000374263.3_Silent_p.T464T	NM_022486.3	NP_071931.2	Q6UWL2	SUSD1_HUMAN	sushi domain containing 1	464						integral to membrane	calcium ion binding		SUSD1/ROD1(2)	central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						TATAATCAGTCGTAGGGTACA	0.478													23	39					0	0	1	0	0	T	114860832	C	T	114860832	2	4	81	1	0	0	0	0	0	0	0	1	15463	871	31	1		1	SUSD1	9	114860832	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	165685	114860832	26352599	7433	11049											
SUSD1	64420	broad.mit.edu	37	9	114874116	114874116	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:114874116G>A	ENST00000374270.3	-	8	1161	c.989C>T	c.(988-990)tCc>tTc	p.S330F	SUSD1_ENST00000374264.2_Missense_Mutation_p.S330F|SUSD1_ENST00000374263.3_Missense_Mutation_p.S330F	NM_022486.3	NP_071931.2	Q6UWL2	SUSD1_HUMAN	sushi domain containing 1	330						integral to membrane	calcium ion binding		SUSD1/ROD1(2)	central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						TCCTTTTATGGATATCTTTGA	0.468													7	36					0	0	1	0	0	A	114874116	G	A	114874116	3	1	81	1	0	0	0	0	1	0	0	0	15463	1174	41	2	1294	2	SUSD1	9	114874116	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	13284	114874116	26339315	7434	11050											
SUSD1	64420	broad.mit.edu	37	9	114886614	114886614	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:114886614A>C	ENST00000374270.3	-	6	981	c.809T>G	c.(808-810)tTt>tGt	p.F270C	SUSD1_ENST00000482851.1_5'UTR|SUSD1_ENST00000374264.2_Missense_Mutation_p.F270C|SUSD1_ENST00000374263.3_Missense_Mutation_p.F270C	NM_022486.3	NP_071931.2	Q6UWL2	SUSD1_HUMAN	sushi domain containing 1	270	Sushi 2.					integral to membrane	calcium ion binding		SUSD1/ROD1(2)	central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						AGGGCTCTCAAAGCCCTCTTG	0.522													37	63					0	0	1	0	0	C	114886614	A	C	114886614	3	2	81	1	0	0	0	0	1	0	0	0	15463	14	1	5	1482	5	SUSD1	9	114886614	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	12498	114886614	26326817	7435	11051											
KIAA1958	158405	broad.mit.edu	37	9	115336718	115336718	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:115336718T>C	ENST00000337530.6	+	2	654	c.358T>C	c.(358-360)Tgt>Cgt	p.C120R	KIAA1958_ENST00000374244.3_Missense_Mutation_p.C120R|KIAA1958_ENST00000536272.1_Missense_Mutation_p.C120R	NM_133465.2	NP_597722.1	Q8N8K9	K1958_HUMAN	KIAA1958	120										endometrium(1)|large_intestine(9)|lung(10)|prostate(2)|skin(3)	25						CAGAGACTCTTGTGACTTCTC	0.473													42	59					0	0	1	0	0	C	115336718	T	C	115336718	3	2	81	1	0	0	0	0	1	0	0	0	8306	1812	63	3	360	3	KIAA1958	9	115336718	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	450104	115336718	25876713	7436	11052											
KIAA1958	158405	broad.mit.edu	37	9	115422292	115422292	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:115422292C>T	ENST00000337530.6	+	4	2390	c.2094C>T	c.(2092-2094)acC>acT	p.T698T	KIAA1958_ENST00000536272.1_Silent_p.T726T	NM_133465.2	NP_597722.1	Q8N8K9	K1958_HUMAN	KIAA1958	698										endometrium(1)|large_intestine(9)|lung(10)|prostate(2)|skin(3)	25						AGAACTTCACCTTTGTCTCGT	0.607													16	30					0	0	1	0	0	T	115422292	C	T	115422292	2	4	81	1	0	0	0	0	0	0	0	1	8306	668	24	2		2	KIAA1958	9	115422292	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	85574	115422292	25791139	7437	11053											
SLC46A2	57864	broad.mit.edu	37	9	115651934	115651934	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:115651934C>T	ENST00000374228.4	-	1	1259	c.1028G>A	c.(1027-1029)cGc>cAc	p.R343H		NM_033051.3	NP_149040.3	Q9BY10	TSCOT_HUMAN	solute carrier family 46, member 2	343						integral to membrane|plasma membrane	symporter activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(1)	18						CCGAAAGCAGCGGGAGAAGAC	0.527													8	13					0	0	1	0	0	T	115651934	C	T	115651934	3	4	81	1	0	0	0	0	1	0	0	0	14700	768	27	1	415	1	SLC46A2	9	115651934	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	229642	115651934	25561497	7438	11054											
ZNF883	169834	broad.mit.edu	37	9	115760310	115760310	+	RNA	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:115760310G>A	ENST00000427548.1	-	0	1503							P0CG24	ZN883_HUMAN	zinc finger protein 883						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding										CTGACTAAAAGCTTTCCCACA	0.358													13	27					0	0	1	0	0	A	115760310	G	A	115760310	1	1	81	0	1	0	0	0	0	0	0	0	18241	971	34	2		2	ZNF883	9	115760310	RNA	SNP	G	TCGA-DU-6392-01A-11D-1705-08	108376	115760310	25453121	7439	11055											
ZFP37	7539	broad.mit.edu	37	9	115806439	115806439	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:115806439G>A	ENST00000374227.3	-	4	486	c.459C>T	c.(457-459)gaC>gaT	p.D153D	ZFP37_ENST00000555206.1_Silent_p.D154D|ZFP37_ENST00000553380.1_Silent_p.D168D	NM_001282515.1|NM_001282518.1	NP_001269444.1|NP_001269447.1	Q9Y6Q3	ZFP37_HUMAN	ZFP37 zinc finger protein	153						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						GTGAACCACAGTCACTGCCAT	0.348													53	75					0	0	1	0	0	A	115806439	G	A	115806439	2	1	81	1	0	0	0	0	0	0	0	1	17706	1020	36	2		2	ZFP37	9	115806439	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	46129	115806439	25406992	7440	11056											
FKBP15	23307	broad.mit.edu	37	9	115932853	115932853	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:115932853C>T	ENST00000238256.3	-	25	2832	c.2715G>A	c.(2713-2715)gaG>gaA	p.E905E		NM_015258.1	NP_056073.1	Q5T1M5	FKB15_HUMAN	FK506 binding protein 15, 133kDa	905					endocytosis|protein folding	axon|early endosome	actin binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(9)|ovary(3)|urinary_tract(1)	26						TGTAAGATTCCTCCAGCTCAA	0.438													32	86					0	0	1	0	0	T	115932853	C	T	115932853	2	4	81	1	0	0	0	0	0	0	0	1	5938	680	24	2		2	FKBP15	9	115932853	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	126414	115932853	25280578	7441	11057											
FKBP15	23307	broad.mit.edu	37	9	115950167	115950167	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:115950167G>T	ENST00000238256.3	-	14	1406	c.1289C>A	c.(1288-1290)tCt>tAt	p.S430Y		NM_015258.1	NP_056073.1	Q5T1M5	FKB15_HUMAN	FK506 binding protein 15, 133kDa	430					endocytosis|protein folding	axon|early endosome	actin binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(9)|ovary(3)|urinary_tract(1)	26						CCCAGTAACAGATGGCTGAGG	0.463													3	21					0.150653	0.152522	1	1	0	T	115950167	G	T	115950167	3	4	81	1	0	0	0	0	1	0	0	0	5938	942	33	4	2430	4	FKBP15	9	115950167	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	17314	115950167	25263264	7442	11058											
FKBP15	23307	broad.mit.edu	37	9	115959295	115959295	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:115959295C>A	ENST00000238256.3	-	9	898	c.781G>T	c.(781-783)Gcc>Tcc	p.A261S		NM_015258.1	NP_056073.1	Q5T1M5	FKB15_HUMAN	FK506 binding protein 15, 133kDa	261	PPIase FKBP-type.				endocytosis|protein folding	axon|early endosome	actin binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(9)|ovary(3)|urinary_tract(1)	26						ACAGCACAGGCTGGAGGGACA	0.498													37	42					2.91434e-09	3.50696e-09	1	1	0	A	115959295	C	A	115959295	3	1	81	1	0	0	0	0	1	0	0	0	5938	797	28	4	2958	4	FKBP15	9	115959295	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	9128	115959295	25254136	7443	11059											
PRPF4	9128	broad.mit.edu	37	9	116050475	116050475	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:116050475T>C	ENST00000374199.4	+	10	1354	c.953T>C	c.(952-954)aTt>aCt	p.I318T	PRPF4_ENST00000374198.4_Missense_Mutation_p.I319T			O43172	PRP4_HUMAN	pre-mRNA processing factor 4	319						Cajal body|nuclear speck|spliceosomal complex|U4/U6 snRNP	protein binding			NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)	23						GTGGCAGATATTGAAGGCCAT	0.433													11	24					0	0	1	0	0	C	116050475	T	C	116050475	3	2	81	1	0	0	0	0	1	0	0	0	12622	1493	52	3	994	3	PRPF4	9	116050475	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	91180	116050475	25162956	7444	11060											
WDR31	114987	broad.mit.edu	37	9	116085392	116085392	+	Translation_Start_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:116085392C>T	ENST00000374195.3	-	0	453				WDR31_ENST00000374193.4_Missense_Mutation_p.R123H|WDR31_ENST00000461942.1_5'UTR|WDR31_ENST00000341761.4_Missense_Mutation_p.R122H			Q8NA23	WDR31_HUMAN	WD repeat domain 31											NS(1)|large_intestine(1)|lung(2)|prostate(2)	6						CATCCTGTCACGAGAGGCACT	0.512													8	29					0	0	1	0	0	T	116085392	C	T	116085392	1	4	81	1	0	0	0	0	0	0	0	0	17346	536	19	1		1	WDR31	9	116085392	Translation_Start_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	34917	116085392	25128039	7445	11061											
BSPRY	54836	broad.mit.edu	37	9	116130640	116130640	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:116130640C>T	ENST00000374183.4	+	5	698	c.659C>T	c.(658-660)aCg>aTg	p.T220M	BSPRY_ENST00000462085.1_Intron	NM_017688.2	NP_060158.2	Q5W0U4	BSPRY_HUMAN	B-box and SPRY domain containing	220	B30.2/SPRY.				calcium ion transport	cytoplasm|membrane	zinc ion binding			breast(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						CTCTGGGCAACGGCGGTTCTT	0.532													30	67					0	0	1	0	0	T	116130640	C	T	116130640	3	4	81	1	0	0	0	0	1	0	0	0	1534	536	19	1	677	1	BSPRY	9	116130640	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	45248	116130640	25082791	7446	11062											
HDHD3	81932	broad.mit.edu	37	9	116136318	116136318	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:116136318C>A	ENST00000238379.5	-	2	1214	c.317G>T	c.(316-318)aGc>aTc	p.S106I	HDHD3_ENST00000374180.3_Missense_Mutation_p.S106I|HDHD3_ENST00000485934.1_5'UTR	NM_031219.2	NP_112496.1	Q9BSH5	HDHD3_HUMAN	haloacid dehalogenase-like hydrolase domain containing 3	106							phosphoglycolate phosphatase activity|protein binding			large_intestine(2)|liver(1)	3						GCAGGGGTGGCTGAAGTCTTT	0.602													15	91					1.15088e-07	1.34837e-07	1	1	0	A	116136318	C	A	116136318	3	1	81	1	0	0	0	0	1	0	0	0	7065	797	28	4	442	4	HDHD3	9	116136318	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	5678	116136318	25077113	7447	11063											
ALAD	210	broad.mit.edu	37	9	116150607	116150607	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:116150607C>A	ENST00000409155.3	-	12	1162	c.966G>T	c.(964-966)caG>caT	p.Q322H	ALAD_ENST00000277315.5_Missense_Mutation_p.Q305H	NM_000031.5	NP_000022.3	P13716	HEM2_HUMAN	aminolevulinate dehydratase	322					heme biosynthetic process|protein homooligomerization	cytosol	identical protein binding|lead ion binding|porphobilinogen synthase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|stomach(1)	9					Aminolevulinic acid(DB00855)	ACTGCAGCAGCTGCGGTGTGT	0.532													9	63					1.08611e-07	1.27405e-07	1	1	0	A	116150607	C	A	116150607	3	1	81	1	0	0	0	0	1	0	0	0	480	796	28	4	30	4	ALAD	9	116150607	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	14289	116150607	25062824	7448	11064											
ALAD	210	broad.mit.edu	37	9	116150638	116150638	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:116150638G>T	ENST00000409155.3	-	12	1131	c.935C>A	c.(934-936)gCt>gAt	p.A312D	ALAD_ENST00000277315.5_Missense_Mutation_p.A295D	NM_000031.5	NP_000022.3	P13716	HEM2_HUMAN	aminolevulinate dehydratase	312					heme biosynthetic process|protein homooligomerization	cytosol	identical protein binding|lead ion binding|porphobilinogen synthase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|stomach(1)	9					Aminolevulinic acid(DB00855)	GATGATGTCAGCACCTGTGTT	0.547													7	53					0.0293803	0.0300537	1	1	0	T	116150638	G	T	116150638	3	4	81	1	0	0	0	0	1	0	0	0	480	971	34	4	61	4	ALAD	9	116150638	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	31	116150638	25062793	7449	11065											
C9orf43	257169	broad.mit.edu	37	9	116187329	116187329	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:116187329A>G	ENST00000288462.4	+	9	1284	c.838A>G	c.(838-840)Aag>Gag	p.K280E	C9orf43_ENST00000374165.1_Missense_Mutation_p.K280E	NM_152786.1	NP_689999.1	Q8TAL5	CI043_HUMAN	chromosome 9 open reading frame 43	280										breast(2)|large_intestine(6)|lung(2)|ovary(1)|pancreas(1)|prostate(3)	15						TGAACGTTTGAAGAAATTACA	0.413													4	62					0	0	1	0	0	G	116187329	A	G	116187329	3	3	81	1	0	0	0	0	1	0	0	0	2501	247	9	3	868	3	C9orf43	9	116187329	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	36691	116187329	25026102	7450	11066											
C9orf43	257169	broad.mit.edu	37	9	116191520	116191520	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:116191520G>T	ENST00000288462.4	+	14	1686	c.1240G>T	c.(1240-1242)Gcc>Tcc	p.A414S	C9orf43_ENST00000374165.1_Missense_Mutation_p.A414S	NM_152786.1	NP_689999.1	Q8TAL5	CI043_HUMAN	chromosome 9 open reading frame 43	414										breast(2)|large_intestine(6)|lung(2)|ovary(1)|pancreas(1)|prostate(3)	15						TGTGCCAGAAGCCCAGGCTGC	0.448													15	125					6.72482e-11	8.27642e-11	1	1	0	T	116191520	G	T	116191520	3	4	81	1	0	0	0	0	1	0	0	0	2501	971	34	4	1290	4	C9orf43	9	116191520	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	4191	116191520	25021911	7451	11067											
RGS3	5998	broad.mit.edu	37	9	116267769	116267769	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:116267769C>T	ENST00000374140.2	+	12	1154	c.945C>T	c.(943-945)tgC>tgT	p.C315C	RGS3_ENST00000394646.3_Silent_p.C34C|RGS3_ENST00000317613.6_Silent_p.C203C|RGS3_ENST00000343817.5_Silent_p.C34C|RGS3_ENST00000374136.1_5'UTR|RGS3_ENST00000350696.5_Silent_p.C315C	NM_001282923.1|NM_144488.4	NP_001269852.1|NP_652759.3	P49796	RGS3_HUMAN	regulator of G-protein signaling 3	315	PDZ.				inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	cytosol|nucleus|plasma membrane	GTPase activator activity|signal transducer activity			cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						CCATCTGCTGCGACTCTCCAG	0.577													9	10					0	0	1	0	0	T	116267769	C	T	116267769	2	4	81	1	0	0	0	0	0	0	0	1	13356	776	27	1		1	RGS3	9	116267769	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	76249	116267769	24945662	7452	11068											
RGS3	5998	broad.mit.edu	37	9	116285291	116285291	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:116285291C>A	ENST00000374140.2	+	18	2049	c.1840C>A	c.(1840-1842)Ctc>Atc	p.L614I	RGS3_ENST00000394646.3_Missense_Mutation_p.L333I|RGS3_ENST00000317613.6_Missense_Mutation_p.L502I|RGS3_ENST00000343817.5_Missense_Mutation_p.L333I|RGS3_ENST00000374136.1_Missense_Mutation_p.L240I|RGS3_ENST00000350696.5_Missense_Mutation_p.L614I	NM_001282923.1|NM_144488.4	NP_001269852.1|NP_652759.3	P49796	RGS3_HUMAN	regulator of G-protein signaling 3	614					inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	cytosol|nucleus|plasma membrane	GTPase activator activity|signal transducer activity			cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						GAGGAACCCCCTCTACCTCCA	0.607													11	77					0.00010058	0.000110448	1	1	0	A	116285291	C	A	116285291	3	1	81	1	0	0	0	0	1	0	0	0	13356	681	24	4	2047	4	RGS3	9	116285291	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	17522	116285291	24928140	7453	11069											
RGS3	5998	broad.mit.edu	37	9	116346234	116346234	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:116346234G>A	ENST00000374140.2	+	21	2751	c.2542G>A	c.(2542-2544)Gcg>Acg	p.A848T	RGS3_ENST00000394646.3_Intron|RP11-168K11.2_ENST00000428429.1_RNA|RGS3_ENST00000343817.5_Missense_Mutation_p.A567T|RGS3_ENST00000374134.3_Missense_Mutation_p.A169T|RGS3_ENST00000342620.5_Intron|RGS3_ENST00000350696.5_Missense_Mutation_p.A848T|RGS3_ENST00000462143.1_Missense_Mutation_p.A169T	NM_001282923.1|NM_144488.4	NP_001269852.1|NP_652759.3	P49796	RGS3_HUMAN	regulator of G-protein signaling 3	848					inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	cytosol|nucleus|plasma membrane	GTPase activator activity|signal transducer activity			cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						GGACCCACCTGCGGCCCCCAG	0.642													17	36					0	0	1	0	0	A	116346234	G	A	116346234	3	1	81	1	0	0	0	0	1	0	0	0	13356	1319	46	2	2873	2	RGS3	9	116346234	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	60943	116346234	24867197	7454	11070											
RGS3	5998	broad.mit.edu	37	9	116346483	116346483	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:116346483C>T	ENST00000374140.2	+	21	3000	c.2791C>T	c.(2791-2793)Ctg>Ttg	p.L931L	RGS3_ENST00000394646.3_Intron|RP11-168K11.2_ENST00000428429.1_RNA|RGS3_ENST00000343817.5_Silent_p.L650L|RGS3_ENST00000374134.3_Silent_p.L252L|RGS3_ENST00000342620.5_Intron|RGS3_ENST00000350696.5_Silent_p.L931L|RGS3_ENST00000462143.1_Silent_p.L252L	NM_001282923.1|NM_144488.4	NP_001269852.1|NP_652759.3	P49796	RGS3_HUMAN	regulator of G-protein signaling 3	931					inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	cytosol|nucleus|plasma membrane	GTPase activator activity|signal transducer activity			cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						TGGCCTCTCACTGCGTGTGCA	0.672													26	36					0	0	1	0	0	T	116346483	C	T	116346483	2	4	81	1	0	0	0	0	0	0	0	1	13356	564	20	2		2	RGS3	9	116346483	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	249	116346483	24866948	7455	11071											
RGS3	5998	broad.mit.edu	37	9	116359132	116359132	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:116359132C>T	ENST00000374140.2	+	26	3705	c.3496C>T	c.(3496-3498)Cgc>Tgc	p.R1166C	RGS3_ENST00000394646.3_Missense_Mutation_p.R559C|RGS3_ENST00000343817.5_Missense_Mutation_p.R885C|RGS3_ENST00000374134.3_Missense_Mutation_p.R487C|RGS3_ENST00000342620.5_Missense_Mutation_p.R136C|RGS3_ENST00000350696.5_Missense_Mutation_p.R1166C|RGS3_ENST00000462143.1_Missense_Mutation_p.R487C|RGS3_ENST00000462403.1_Missense_Mutation_p.R279C	NM_001282923.1|NM_144488.4	NP_001269852.1|NP_652759.3	P49796	RGS3_HUMAN	regulator of G-protein signaling 3	1166	RGS.				inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	cytosol|nucleus|plasma membrane	GTPase activator activity|signal transducer activity			cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						GGCACAGAAGCGCATCTTCGG	0.582													20	47					0	0	1	0	0	T	116359132	C	T	116359132	3	4	81	1	0	0	0	0	1	0	0	0	13356	768	27	1	4270	1	RGS3	9	116359132	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	12649	116359132	24854299	7456	11072											
ZNF618	114991	broad.mit.edu	37	9	116750643	116750643	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:116750643C>T	ENST00000288466.7	+	3	219	c.120C>T	c.(118-120)ggC>ggT	p.G40G	ZNF618_ENST00000374126.5_Silent_p.G40G	NM_133374.2	NP_588615.2	Q5T7W0	ZN618_HUMAN	zinc finger protein 618	40					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|lung(10)|urinary_tract(1)	16						AGGTGGAGGGCCCAGAGCCAG	0.587													13	16					0	0	1	0	0	T	116750643	C	T	116750643	2	4	81	1	0	0	0	0	0	0	0	1	18099	726	26	2		2	ZNF618	9	116750643	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	391511	116750643	24462788	7457	11073											
ZNF618	114991	broad.mit.edu	37	9	116811240	116811240	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:116811240G>A	ENST00000288466.7	+	14	1478	c.1379G>A	c.(1378-1380)tGc>tAc	p.C460Y	ZNF618_ENST00000374126.5_Missense_Mutation_p.C553Y|ZNF618_ENST00000470105.1_3'UTR	NM_133374.2	NP_588615.2	Q5T7W0	ZN618_HUMAN	zinc finger protein 618	553					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|lung(10)|urinary_tract(1)	16						GGTGTCACCTGCCACTCCCAG	0.592													4	13					0	0	1	0	0	A	116811240	G	A	116811240	3	1	81	1	0	0	0	0	1	0	0	0	18099	1319	46	2	1433	2	ZNF618	9	116811240	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	60597	116811240	24402191	7458	11074											
ZNF618	114991	broad.mit.edu	37	9	116811954	116811954	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:116811954C>T	ENST00000288466.7	+	14	2192	c.2093C>T	c.(2092-2094)gCg>gTg	p.A698V	ZNF618_ENST00000374126.5_Missense_Mutation_p.A791V|ZNF618_ENST00000470105.1_3'UTR	NM_133374.2	NP_588615.2	Q5T7W0	ZN618_HUMAN	zinc finger protein 618	791					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|lung(10)|urinary_tract(1)	16						TTCCTGGAGGCGCTCAAGGAG	0.637													10	47					0	0	1	0	0	T	116811954	C	T	116811954	3	4	81	1	0	0	0	0	1	0	0	0	18099	768	27	1	2147	1	ZNF618	9	116811954	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	714	116811954	24401477	7459	11075											
AMBP	259	broad.mit.edu	37	9	116838953	116838953	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:116838953C>A	ENST00000265132.3	-	2	447	c.185G>T	c.(184-186)aGg>aTg	p.R62M		NM_001633.3	NP_001624.1	P02760	AMBP_HUMAN	alpha-1-microglobulin/bikunin precursor	62					cell adhesion|female pregnancy|heme catabolic process|interspecies interaction between organisms|negative regulation of immune response|negative regulation of JNK cascade|protein-chromophore linkage	extracellular region|plasma membrane	calcium channel inhibitor activity|calcium oxalate binding|heme binding|IgA binding|protein homodimerization activity|serine-type endopeptidase inhibitor activity|transporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	11					Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)	CACTGTCATCCTGTCCATGAT	0.597													17	33					1.2644e-06	1.45856e-06	1	1	0	A	116838953	C	A	116838953	3	1	81	1	0	0	0	0	1	0	0	0	560	681	24	4	909	4	AMBP	9	116838953	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	26999	116838953	24374478	7460	11076											
AMBP	259	broad.mit.edu	37	9	116840374	116840374	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:116840374C>T	ENST00000265132.3	-	1	378	c.116G>A	c.(115-117)cGg>cAg	p.R39Q		NM_001633.3	NP_001624.1	P02760	AMBP_HUMAN	alpha-1-microglobulin/bikunin precursor	39					cell adhesion|female pregnancy|heme catabolic process|interspecies interaction between organisms|negative regulation of immune response|negative regulation of JNK cascade|protein-chromophore linkage	extracellular region|plasma membrane	calcium channel inhibitor activity|calcium oxalate binding|heme binding|IgA binding|protein homodimerization activity|serine-type endopeptidase inhibitor activity|transporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	11					Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)	CAGCCTTACCCGAGAGATATT	0.642													5	66					0	0	1	0	0	T	116840374	C	T	116840374	5	4	81	1	0	0	0	0	0	0	1	0	560	666	23	1	982	1	AMBP	9	116840374	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1421	116840374	24373057	7461	11077											
KIF12	113220	broad.mit.edu	37	9	116854674	116854674	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:116854674C>A	ENST00000374118.3	-	15	1578	c.1341G>T	c.(1339-1341)gaG>gaT	p.E447D		NM_138424.1	NP_612433.1	Q96FN5	KIF12_HUMAN	kinesin family member 12	580					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	17						AAGGTACCACCTCCTCCTCCG	0.602													10	94					0.00829132	0.00865729	1	1	0	A	116854674	C	A	116854674	3	1	81	1	0	0	0	0	1	0	0	0	8315	680	24	4	208	4	KIF12	9	116854674	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	14300	116854674	24358757	7462	11078											
COL27A1	85301	broad.mit.edu	37	9	116999977	116999977	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:116999977C>T	ENST00000356083.3	+	19	3100	c.2709C>T	c.(2707-2709)ccC>ccT	p.P903P		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	903	Collagen-like 5.|Pro-rich.|Triple-helical region.				cell adhesion		extracellular matrix structural constituent	p.P903P(1)		central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						TTGGGTTTCCCGGGCCCCCTG	0.617													24	23					0	0	1	0	0	T	116999977	C	T	116999977	2	4	81	1	0	0	0	0	0	0	0	1	3708	639	23	1		1	COL27A1	9	116999977	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	145303	116999977	24213454	7463	11079											
DFNB31	25861	broad.mit.edu	37	9	117169038	117169038	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:117169038G>T	ENST00000362057.3	-	9	2001	c.1833C>A	c.(1831-1833)tcC>tcA	p.S611S	DFNB31_ENST00000374059.3_Silent_p.S260S|DFNB31_ENST00000265134.6_Silent_p.S228S	NM_001173425.1|NM_015404.3	NP_001166896.1|NP_056219	Q9P202	WHRN_HUMAN	deafness, autosomal recessive 31	611	Pro-rich.				inner ear receptor stereocilium organization|retina homeostasis|sensory perception of light stimulus|sensory perception of sound	cytoplasm|growth cone|stereocilium				central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|ovary(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						AAGGCATGGAGGAAGGTGGCT	0.667													3	25					0.004672	0.00489345	1	1	0	T	117169038	G	T	117169038	2	4	81	1	0	0	0	0	0	0	0	1	4483	987	35	4		4	DFNB31	9	117169038	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	169061	117169038	24044393	7464	11080											
DFNB31	25861	broad.mit.edu	37	9	117188682	117188682	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:117188682C>A	ENST00000362057.3	-	4	1143	c.975G>T	c.(973-975)caG>caT	p.Q325H	DFNB31_ENST00000265134.6_5'UTR	NM_001173425.1|NM_015404.3	NP_001166896.1|NP_056219	Q9P202	WHRN_HUMAN	deafness, autosomal recessive 31	325	PDZ 2.				inner ear receptor stereocilium organization|retina homeostasis|sensory perception of light stimulus|sensory perception of sound	cytoplasm|growth cone|stereocilium				central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|ovary(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CTTCTAGAATCTGGTCCCCAA	0.527													4	23					0.014758	0.0152304	1	1	0	A	117188682	C	A	117188682	3	1	81	1	0	0	0	0	1	0	0	0	4483	912	32	4	1784	4	DFNB31	9	117188682	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	19644	117188682	24024749	7465	11081											
TNFSF15	9966	broad.mit.edu	37	9	117555845	117555845	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:117555845G>T	ENST00000374045.4	-	2	327	c.214C>A	c.(214-216)Cta>Ata	p.L72I		NM_001204344.1|NM_005118.3	NP_001191273.1|NP_005109.2	O95150	TNF15_HUMAN	tumor necrosis factor (ligand) superfamily, member 15	72		Cleavage.			activation of caspase activity|activation of NF-kappaB-inducing kinase activity|cytokine metabolic process|immune response	extracellular space|integral to plasma membrane	cytokine activity|tumor necrosis factor receptor binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|skin(1)	11						TGTCCTTTTAGAGCCTATTGG	0.418													13	89					9.05144e-12	1.12483e-11	1	1	0	T	117555845	G	T	117555845	3	4	81	1	0	0	0	0	1	0	0	0	16368	933	33	4	553	4	TNFSF15	9	117555845	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	367163	117555845	23657586	7466	11082											
TNFSF8	944	broad.mit.edu	37	9	117692400	117692400	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:117692400C>T	ENST00000223795.2	-	1	297	c.184G>A	c.(184-186)Gtt>Att	p.V62I		NM_001244.3	NP_001235.1	P32971	TNFL8_HUMAN	tumor necrosis factor (ligand) superfamily, member 8	62					cell proliferation|cell-cell signaling|immune response|induction of apoptosis|signal transduction	extracellular space|integral to plasma membrane	cytokine activity|tumor necrosis factor receptor binding			endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|skin(3)|urinary_tract(1)	12						GTCCTCTGAACGACCAACACC	0.507													26	67					0	0	1	0	0	T	117692400	C	T	117692400	3	4	81	1	0	0	0	0	1	0	0	0	16371	536	19	1	536	1	TNFSF8	9	117692400	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	136555	117692400	23521031	7467	11083											
TNC	3371	broad.mit.edu	37	9	117783498	117783498	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:117783498C>T	ENST00000350763.4	-	28	6955	c.6544G>A	c.(6544-6546)Gct>Act	p.A2182T	TNC_ENST00000340094.3_Missense_Mutation_p.A1818T|TNC_ENST00000535648.1_Missense_Mutation_p.A1727T|TNC_ENST00000537320.1_Missense_Mutation_p.A1545T|TNC_ENST00000423613.2_Missense_Mutation_p.A1909T|TNC_ENST00000341037.4_Missense_Mutation_p.A2000T|TNC_ENST00000346706.3_Missense_Mutation_p.A1636T|TNC_ENST00000542877.1_Missense_Mutation_p.A1819T|TNC_ENST00000345230.3_Missense_Mutation_p.A1545T	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	2182	Fibrinogen C-terminal.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						TTCATCTCAGCAAACTGGATT	0.488													7	46					0	0	1	0	0	T	117783498	C	T	117783498	3	4	81	1	0	0	0	0	1	0	0	0	16330	710	25	2	65	2	TNC	9	117783498	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	91098	117783498	23429933	7468	11084											
TNC	3371	broad.mit.edu	37	9	117791675	117791675	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:117791675C>T	ENST00000350763.4	-	25	6544	c.6133G>A	c.(6133-6135)Gct>Act	p.A2045T	TNC_ENST00000340094.3_Missense_Mutation_p.A1681T|TNC_ENST00000535648.1_Missense_Mutation_p.A1590T|TNC_ENST00000537320.1_Missense_Mutation_p.A1408T|TNC_ENST00000423613.2_Missense_Mutation_p.A1772T|TNC_ENST00000341037.4_Missense_Mutation_p.A1863T|TNC_ENST00000346706.3_Missense_Mutation_p.A1499T|TNC_ENST00000542877.1_Missense_Mutation_p.A1682T|TNC_ENST00000345230.3_Missense_Mutation_p.A1408T	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	2045	Fibrinogen C-terminal.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						CCAAATCCAGCAGCATATGCC	0.443													39	52					0	0	1	0	0	T	117791675	C	T	117791675	3	4	81	1	0	0	0	0	1	0	0	0	16330	710	25	2	488	2	TNC	9	117791675	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	8177	117791675	23421756	7469	11085											
TNC	3371	broad.mit.edu	37	9	117797590	117797590	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:117797590T>C	ENST00000350763.4	-	22	6091	c.5680A>G	c.(5680-5682)Act>Gct	p.T1894A	TNC_ENST00000340094.3_Missense_Mutation_p.T1530A|TNC_ENST00000535648.1_Missense_Mutation_p.T1439A|TNC_ENST00000537320.1_Missense_Mutation_p.T1257A|TNC_ENST00000423613.2_Missense_Mutation_p.T1621A|TNC_ENST00000341037.4_Missense_Mutation_p.T1712A|TNC_ENST00000346706.3_Missense_Mutation_p.T1348A|TNC_ENST00000542877.1_Missense_Mutation_p.T1531A|TNC_ENST00000345230.3_Missense_Mutation_p.T1257A	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	1894	Fibronectin type-III 15.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						TCAGTAGCAGTCAAGTCTCTT	0.512													3	54					0	0	1	0	0	C	117797590	T	C	117797590	3	2	81	1	0	0	0	0	1	0	0	0	16330	1667	58	3	953	3	TNC	9	117797590	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	5915	117797590	23415841	7470	11086											
TNC	3371	broad.mit.edu	37	9	117819616	117819616	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:117819616G>A	ENST00000350763.4	-	15	4806	c.4395C>T	c.(4393-4395)ttC>ttT	p.F1465F	TNC_ENST00000340094.3_Silent_p.F1101F|TNC_ENST00000535648.1_Silent_p.F1101F|TNC_ENST00000537320.1_Intron|TNC_ENST00000423613.2_Intron|TNC_ENST00000341037.4_Silent_p.F1374F|TNC_ENST00000346706.3_Intron|TNC_ENST00000542877.1_Silent_p.F1101F|TNC_ENST00000345230.3_Intron	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	1465	Fibronectin type-III 10.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						TAAAGGTCTCGAAGATCCCAT	0.423													78	136					0	0	1	0	0	A	117819616	G	A	117819616	2	1	81	1	0	0	0	0	0	0	0	1	16330	1049	37	1		1	TNC	9	117819616	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	22026	117819616	23393815	7471	11087											
TNC	3371	broad.mit.edu	37	9	117825213	117825213	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:117825213G>A	ENST00000350763.4	-	13	4427	c.4016C>T	c.(4015-4017)gCt>gTt	p.A1339V	TNC_ENST00000340094.3_Intron|TNC_ENST00000535648.1_Intron|TNC_ENST00000537320.1_Intron|TNC_ENST00000423613.2_Missense_Mutation_p.A1339V|TNC_ENST00000341037.4_Intron|TNC_ENST00000346706.3_Intron|TNC_ENST00000542877.1_Intron|TNC_ENST00000345230.3_Intron	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	1339	Fibronectin type-III 8.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						GACCTCTACAGCAAGGGGTCG	0.567													11	12					0	0	1	0	0	A	117825213	G	A	117825213	3	1	81	1	0	0	0	0	1	0	0	0	16330	971	34	2	2653	2	TNC	9	117825213	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	5597	117825213	23388218	7472	11088											
TNC	3371	broad.mit.edu	37	9	117840388	117840388	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:117840388G>T	ENST00000350763.4	-	7	2919	c.2508C>A	c.(2506-2508)acC>acA	p.T836T	TNC_ENST00000340094.3_Silent_p.T836T|TNC_ENST00000535648.1_Silent_p.T836T|TNC_ENST00000537320.1_Silent_p.T836T|TNC_ENST00000423613.2_Silent_p.T836T|TNC_ENST00000341037.4_Silent_p.T836T|TNC_ENST00000346706.3_Silent_p.T836T|TNC_ENST00000542877.1_Silent_p.T836T|TNC_ENST00000345230.3_Silent_p.T836T	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	836	Fibronectin type-III 3.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						TGATGCCGTAGGTCAGCTCAA	0.557													16	31					9.16793e-09	1.09544e-08	1	1	0	T	117840388	G	T	117840388	2	4	81	1	0	0	0	0	0	0	0	1	16330	987	35	4		4	TNC	9	117840388	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	15175	117840388	23373043	7473	11089											
PAPPA	5069	broad.mit.edu	37	9	119065179	119065179	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:119065179G>A	ENST00000328252.3	+	10	3466	c.3097G>A	c.(3097-3099)Gac>Aac	p.D1033N	RP11-45A16.4_ENST00000451100.1_RNA|PAPPA_ENST00000534838.1_Missense_Mutation_p.D71N	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	1033					cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						ATCTCATCAAGACCAGCAATG	0.507													24	37					0	0	1	0	0	A	119065179	G	A	119065179	3	1	81	1	0	0	0	0	1	0	0	0	11479	942	33	2	3135	2	PAPPA	9	119065179	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1224791	119065179	22148252	7474	11090											
PAPPA	5069	broad.mit.edu	37	9	119093569	119093569	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:119093569A>C	ENST00000328252.3	+	11	3563	c.3194A>C	c.(3193-3195)cAt>cCt	p.H1065P	PAPPA_ENST00000534838.1_Missense_Mutation_p.H103P	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	1065					cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						ATTTCCCAGCATGCCTGGTAC	0.453													5	55					0	0	1	0	0	C	119093569	A	C	119093569	3	2	81	1	0	0	0	0	1	0	0	0	11479	217	8	4	3236	4	PAPPA	9	119093569	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	28390	119093569	22119862	7475	11091											
TRIM32	22954	broad.mit.edu	37	9	119461189	119461189	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:119461189C>T	ENST00000450136.1	+	2	1329	c.1168C>T	c.(1168-1170)Cgt>Tgt	p.R390C	ASTN2_ENST00000313400.4_Intron|ASTN2_ENST00000373996.3_Intron|ASTN2_ENST00000361209.2_Intron|TRIM32_ENST00000373983.2_Missense_Mutation_p.R390C|ASTN2_ENST00000361477.3_Intron	NM_001099679.1|NM_012210.3	NP_001093149.1|NP_036342.2	Q13049	TRI32_HUMAN	tripartite motif containing 32	390					fat cell differentiation|innate immune response|negative regulation of apoptosis|negative regulation of fibroblast proliferation|positive regulation of cell cycle|positive regulation of cell growth|positive regulation of cell migration|positive regulation of neurogenesis|positive regulation of neuron differentiation|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein catabolic process|positive regulation of proteolysis|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to tumor necrosis factor|response to UV	nucleus	myosin binding|protein self-association|RNA binding|Tat protein binding|transcription coactivator activity|translation initiation factor binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	26						AGTCGCTGACCGTGGTAACTA	0.493													5	90					0	0	1	0	0	T	119461189	C	T	119461189	3	4	81	1	0	0	0	0	1	0	0	0	16567	652	23	1	1170	1	TRIM32	9	119461189	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	367620	119461189	21752242	7476	11092											
MEGF9	1955	broad.mit.edu	37	9	123370192	123370192	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:123370192C>T	ENST00000373930.3	-	5	1295	c.1184G>A	c.(1183-1185)aGc>aAc	p.S395N	MEGF9_ENST00000426959.1_Missense_Mutation_p.S432N	NM_001080497.2	NP_001073966.2	Q9H1U4	MEGF9_HUMAN	multiple EGF-like-domains 9	395	Laminin EGF-like 4.					integral to membrane	calcium ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|upper_aerodigestive_tract(1)	16						TCTACAGATGCTGTCAAAATT	0.428													50	97					0	0	1	0	0	T	123370192	C	T	123370192	3	4	81	1	0	0	0	0	1	0	0	0	9514	797	28	2	632	2	MEGF9	9	123370192	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3909003	123370192	17843239	7477	11093											
C5	727	broad.mit.edu	37	9	123722524	123722524	+	Splice_Site	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:123722524A>G	ENST00000223642.1	-	38	4708		c.e38+1			NM_001735.2	NP_001726.2	P01031	CO5_HUMAN	complement component 5						activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|G-protein coupled receptor protein signaling pathway|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production	extracellular space|membrane attack complex	chemokine activity|endopeptidase inhibitor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)	TTTTGAACTCACCATATGCAA	0.323													6	35					0	0	1	0	0	G	123722524	A	G	123722524	5	3	81	1	0	0	0	0	0	0	1	0	2295	173	6	3	366	3	C5	9	123722524	Splice_Site	SNP	A	TCGA-DU-6392-01A-11D-1705-08	352332	123722524	17490907	7478	11094											
C5	727	broad.mit.edu	37	9	123732462	123732462	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:123732462G>A	ENST00000223642.1	-	32	4177	c.4148C>T	c.(4147-4149)aCt>aTt	p.T1383I		NM_001735.2	NP_001726.2	P01031	CO5_HUMAN	complement component 5	1383					activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|G-protein coupled receptor protein signaling pathway|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production	extracellular space|membrane attack complex	chemokine activity|endopeptidase inhibitor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)	AATATCCTGAGTATCGATTTT	0.343													13	25					0	0	1	0	0	A	123732462	G	A	123732462	3	1	81	1	0	0	0	0	1	0	0	0	2295	1029	36	2	922	2	C5	9	123732462	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	9938	123732462	17480969	7479	11095											
C5	727	broad.mit.edu	37	9	123744139	123744139	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:123744139C>T	ENST00000223642.1	-	27	3498	c.3469G>A	c.(3469-3471)Gat>Aat	p.D1157N		NM_001735.2	NP_001726.2	P01031	CO5_HUMAN	complement component 5	1157					activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|G-protein coupled receptor protein signaling pathway|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production	extracellular space|membrane attack complex	chemokine activity|endopeptidase inhibitor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)	GGGCATATATCGAAAGCCTTT	0.408													14	20					0	0	1	0	0	T	123744139	C	T	123744139	3	4	81	1	0	0	0	0	1	0	0	0	2295	884	31	1	1621	1	C5	9	123744139	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	11677	123744139	17469292	7480	11096											
C5	727	broad.mit.edu	37	9	123783855	123783855	+	Missense_Mutation	SNP	G	G	A	rs148822412		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:123783855G>A	ENST00000223642.1	-	11	1263	c.1234C>T	c.(1234-1236)Cgt>Tgt	p.R412C		NM_001735.2	NP_001726.2	P01031	CO5_HUMAN	complement component 5	412					activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|G-protein coupled receptor protein signaling pathway|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production	extracellular space|membrane attack complex	chemokine activity|endopeptidase inhibitor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)	TCATCAACACGTGTTACACTT	0.438													37	45					0	0	1	0	0	A	123783855	G	A	123783855	3	1	81	1	0	0	0	0	1	0	0	0	2295	1145	40	1	3920	1	C5	9	123783855	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	39716	123783855	17429576	7481	11097											
C5	727	broad.mit.edu	37	9	123794416	123794416	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:123794416G>A	ENST00000223642.1	-	6	671	c.642C>T	c.(640-642)acC>acT	p.T214T		NM_001735.2	NP_001726.2	P01031	CO5_HUMAN	complement component 5	214					activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|G-protein coupled receptor protein signaling pathway|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production	extracellular space|membrane attack complex	chemokine activity|endopeptidase inhibitor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)	CAAAATATGCGGTTCCAGTTG	0.323													19	30					0	0	1	0	0	A	123794416	G	A	123794416	2	1	81	1	0	0	0	0	0	0	0	1	2295	1103	39	1		1	C5	9	123794416	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	10561	123794416	17419015	7482	11098											
RAB14	51552	broad.mit.edu	37	9	123943691	123943691	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:123943691C>A	ENST00000373840.4	-	8	868	c.631G>T	c.(631-633)Gaa>Taa	p.E211*		NM_016322.3	NP_057406.2	P61106	RAB14_HUMAN	RAB14, member RAS oncogene family	211					embryo development|fibroblast growth factor receptor signaling pathway|Golgi to endosome transport|neurotransmitter secretion|protein transport|small GTPase mediated signal transduction	cytosol|early endosome membrane|Golgi membrane|Golgi stack|late endosome|lysosome|membrane fraction|nuclear outer membrane-endoplasmic reticulum membrane network|perinuclear region of cytoplasm|rough endoplasmic reticulum|trans-Golgi network transport vesicle	GDP binding|GTP binding|GTPase activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5						CCACAGCCTTCTCTCTGGGGT	0.532													6	54					3.59834e-05	3.99423e-05	1	1	0	A	123943691	C	A	123943691	4	1	81	1	0	0	0	0	0	1	0	0	12952	922	32	4	20	4	RAB14	9	123943691	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	149275	123943691	17269740	7483	11099											
RAB14	51552	broad.mit.edu	37	9	123949285	123949285	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:123949285A>G	ENST00000373840.4	-	5	534	c.297T>C	c.(295-297)taT>taC	p.Y99Y		NM_016322.3	NP_057406.2	P61106	RAB14_HUMAN	RAB14, member RAS oncogene family	99					embryo development|fibroblast growth factor receptor signaling pathway|Golgi to endosome transport|neurotransmitter secretion|protein transport|small GTPase mediated signal transduction	cytosol|early endosome membrane|Golgi membrane|Golgi stack|late endosome|lysosome|membrane fraction|nuclear outer membrane-endoplasmic reticulum membrane network|perinuclear region of cytoplasm|rough endoplasmic reticulum|trans-Golgi network transport vesicle	GDP binding|GTP binding|GTPase activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5						TTAAGTGGTTATATGTACTTC	0.269													7	79					0	0	1	0	0	G	123949285	A	G	123949285	2	3	81	1	0	0	0	0	0	0	0	1	12952	456	16	3		3	RAB14	9	123949285	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	5594	123949285	17264146	7484	11100											
RAB14	51552	broad.mit.edu	37	9	123952957	123952957	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:123952957G>A	ENST00000373840.4	-	4	396	c.159C>T	c.(157-159)atC>atT	p.I53I		NM_016322.3	NP_057406.2	P61106	RAB14_HUMAN	RAB14, member RAS oncogene family	53					embryo development|fibroblast growth factor receptor signaling pathway|Golgi to endosome transport|neurotransmitter secretion|protein transport|small GTPase mediated signal transduction	cytosol|early endosome membrane|Golgi membrane|Golgi stack|late endosome|lysosome|membrane fraction|nuclear outer membrane-endoplasmic reticulum membrane network|perinuclear region of cytoplasm|rough endoplasmic reticulum|trans-Golgi network transport vesicle	GDP binding|GTP binding|GTPase activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5						CACTAACTTCGATTATTCTTG	0.418													17	32					0	0	1	0	0	A	123952957	G	A	123952957	2	1	81	1	0	0	0	0	0	0	0	1	12952	1048	37	1		1	RAB14	9	123952957	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	3672	123952957	17260474	7485	11101											
GSN	2934	broad.mit.edu	37	9	124079496	124079496	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:124079496G>A	ENST00000373823.3	+	15	1791	c.886G>A	c.(886-888)Ggc>Agc	p.G296S	GSN_ENST00000449733.1_Splice_Site_p.G296S|GSN_ENST00000485767.1_3'UTR|GSN_ENST00000436847.1_Splice_Site_p.G307S|GSN_ENST00000373818.4_Splice_Site_p.G347S|GSN_ENST00000341272.2_Splice_Site_p.G296S|GSN_ENST00000545652.1_Splice_Site_p.G304S|GSN_ENST00000412819.1_Splice_Site_p.G296S|GSN_ENST00000394353.2_Splice_Site_p.G307S|GSN_ENST00000373808.2_Splice_Site_p.G296S|GSN_ENST00000373807.1_Splice_Site_p.G78S			P06396	GELS_HUMAN	gelsolin	347					actin filament polymerization|actin filament severing|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|cilium morphogenesis	actin cytoskeleton|cytosol	actin binding|calcium ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)	21						TGTCTGGAAAGGTACTGGAGA	0.577													47	96					0	0	1	0	0	A	124079496	G	A	124079496	5	1	81	1	0	0	0	0	0	0	1	0	6866	1014	35	2	1093	2	GSN	9	124079496	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	126539	124079496	17133935	7486	11102											
STOM	2040	broad.mit.edu	37	9	124111498	124111498	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:124111498G>A	ENST00000286713.2	-	5	442	c.425C>T	c.(424-426)gCa>gTa	p.A142V	STOM_ENST00000538954.1_Missense_Mutation_p.A91V|STOM_ENST00000347359.2_Intron	NM_001270526.1|NM_004099.5	NP_001257455.1|NP_004090.4	P27105	STOM_HUMAN	stomatin	142					protein homooligomerization	cytoskeleton|integral to plasma membrane|melanosome|membrane raft	protein binding			endometrium(1)|large_intestine(1)|lung(3)|urinary_tract(1)	6				OV - Ovarian serous cystadenocarcinoma(323;0.00107)|GBM - Glioblastoma multiforme(294;0.0137)		AAGACGGGTTGCTGAGTCAGC	0.473													15	26					0	0	1	0	0	A	124111498	G	A	124111498	3	1	81	1	0	0	0	0	1	0	0	0	15368	1319	46	2	453	2	STOM	9	124111498	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	32002	124111498	17101933	7487	11103											
DAB2IP	153090	broad.mit.edu	37	9	124522547	124522547	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:124522547C>T	ENST00000408936.3	+	6	1181	c.999C>T	c.(997-999)cgC>cgT	p.R333R	DAB2IP_ENST00000259371.2_Silent_p.R305R|DAB2IP_ENST00000309989.1_Silent_p.R209R			Q5VWQ8	DAB2P_HUMAN	DAB2 interacting protein	333					activation of JUN kinase activity|apoptosis in response to endoplasmic reticulum stress|cellular response to epidermal growth factor stimulus|cellular response to tumor necrosis factor|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of Ras GTPase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|intrinsic to internal side of plasma membrane	14-3-3 protein binding|death receptor binding|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity|protein phosphatase 2A binding|Ras GTPase activator activity|signaling adaptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	27						TCAAGGCGCGCTACCAAACCA	0.632													9	18					0	0	1	0	0	T	124522547	C	T	124522547	2	4	81	1	0	0	0	0	0	0	0	1	4243	784	28	2		2	DAB2IP	9	124522547	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	411049	124522547	16690884	7488	11104											
DAB2IP	153090	broad.mit.edu	37	9	124525895	124525895	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:124525895C>T	ENST00000408936.3	+	7	1464	c.1282C>T	c.(1282-1284)Cta>Tta	p.L428L	DAB2IP_ENST00000259371.2_Silent_p.L400L|DAB2IP_ENST00000309989.1_Silent_p.L304L			Q5VWQ8	DAB2P_HUMAN	DAB2 interacting protein	428	Ras-GAP.				activation of JUN kinase activity|apoptosis in response to endoplasmic reticulum stress|cellular response to epidermal growth factor stimulus|cellular response to tumor necrosis factor|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of Ras GTPase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|intrinsic to internal side of plasma membrane	14-3-3 protein binding|death receptor binding|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity|protein phosphatase 2A binding|Ras GTPase activator activity|signaling adaptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	27						GTACCTCAAGCTAGTGGGCCA	0.637													5	13					0	0	1	0	0	T	124525895	C	T	124525895	2	4	81	1	0	0	0	0	0	0	0	1	4243	796	28	2		2	DAB2IP	9	124525895	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3348	124525895	16687536	7489	11105											
MORN5	254956	broad.mit.edu	37	9	124936902	124936902	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:124936902C>T	ENST00000536616.1	+	4	473	c.435C>T	c.(433-435)aaC>aaT	p.N145N	MORN5_ENST00000486801.1_3'UTR|MORN5_ENST00000373764.3_Silent_p.N145N			Q5VZ52	MORN5_HUMAN	MORN repeat containing 5	145								p.N145N(1)		endometrium(3)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	9						TTCTAAGAAACGCAGGTAGGT	0.448													32	38					0	0	1	0	0	T	124936902	C	T	124936902	2	4	81	1	0	0	0	0	0	0	0	1	9760	535	19	1		1	MORN5	9	124936902	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	411007	124936902	16276529	7490	11106											
PTGS1	5742	broad.mit.edu	37	9	125154616	125154616	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:125154616G>T	ENST00000362012.2	+	11	1598	c.1593G>T	c.(1591-1593)aaG>aaT	p.K531N	PTGS1_ENST00000223423.4_Missense_Mutation_p.K494N|PTGS1_ENST00000373698.5_Missense_Mutation_p.K422N|PTGS1_ENST00000540753.1_Missense_Mutation_p.K469N	NM_000962.3|NM_001271164.1|NM_001271367.1|NM_080591.2	NP_000953.2|NP_001258093.1|NP_001258296.1|NP_542158.1	P23219	PGH1_HUMAN	prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase)	531					cyclooxygenase pathway|hormone biosynthetic process|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum membrane|Golgi apparatus|microsome|plasma membrane	heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity			large_intestine(3)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	8					Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dipyrone(DB04817)|Etodolac(DB00749)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Mesalazine(DB00244)|Minoxidil(DB00350)|Nabumetone(DB00461)|Naproxen(DB00788)|Phenacetin(DB03783)|Piroxicam(DB00554)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Tolmetin(DB00500)	TTTCCCTCAAGGGTCTCCTAG	0.512													11	108					2.27111e-07	2.65192e-07	1	1	0	T	125154616	G	T	125154616	3	4	81	1	0	0	0	0	1	0	0	0	12805	991	35	4	1635	4	PTGS1	9	125154616	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	217714	125154616	16058815	7491	11107											
OR1J1	347168	broad.mit.edu	37	9	125239577	125239577	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:125239577G>A	ENST00000259357.2	-	1	658	c.629C>T	c.(628-630)cCa>cTa	p.P210L		NM_001004451.1	NP_001004451.1	Q8NGS3	OR1J1_HUMAN	olfactory receptor, family 1, subfamily J, member 1	210					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	16						GCACAGGAATGGAAGCATAAT	0.493													7	46					0	0	1	0	0	A	125239577	G	A	125239577	3	1	81	1	0	0	0	0	1	0	0	0	11007	1348	47	2	342	2	OR1J1	9	125239577	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	84961	125239577	15973854	7492	11108											
OR1J2	26740	broad.mit.edu	37	9	125273822	125273822	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:125273822G>A	ENST00000335302.5	+	1	742	c.742G>A	c.(742-744)Gtg>Atg	p.V248M		NM_054107.1	NP_473448.1	Q8NGS2	OR1J2_HUMAN	olfactory receptor, family 1, subfamily J, member 2	248					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(7)|stomach(1)	26						TCTCTCTGTGGTGTCTCTCTA	0.488													52	95					0	0	1	0	0	A	125273822	G	A	125273822	3	1	81	1	0	0	0	0	1	0	0	0	11008	1261	44	2	744	2	OR1J2	9	125273822	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	34245	125273822	15939609	7493	11109											
OR1N1	138883	broad.mit.edu	37	9	125289054	125289054	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:125289054A>G	ENST00000304880.2	-	1	518	c.519T>C	c.(517-519)gcT>gcC	p.A173A		NM_012363.1	NP_036495.1	Q8NGS0	OR1N1_HUMAN	olfactory receptor, family 1, subfamily N, member 1	173					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|large_intestine(2)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						AGAAAAAGTGAGCAATTTCCC	0.502													7	18					0	0	1	0	0	G	125289054	A	G	125289054	2	3	81	1	0	0	0	0	0	0	0	1	11017	291	11	3		3	OR1N1	9	125289054	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	15232	125289054	15924377	7494	11110											
OR1N2	138882	broad.mit.edu	37	9	125315826	125315826	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:125315826C>T	ENST00000373688.2	+	1	436	c.378C>T	c.(376-378)ggC>ggT	p.G126G		NM_001004457.1	NP_001004457.1	Q8NGR9	OR1N2_HUMAN	olfactory receptor, family 1, subfamily N, member 2	126					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3)	26						TGTTTGGTGGCCTTGACAACT	0.507													50	76					0	0	1	0	0	T	125315826	C	T	125315826	2	4	81	1	0	0	0	0	0	0	0	1	11018	726	26	2		2	OR1N2	9	125315826	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	26772	125315826	15897605	7495	11111											
OR1Q1	158131	broad.mit.edu	37	9	125377139	125377139	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:125377139C>T	ENST00000297913.2	+	1	192	c.123C>T	c.(121-123)ggC>ggT	p.G41G	RP11-64P14.7_ENST00000431442.1_RNA	NM_012364.1	NP_036496.1	Q15612	OR1Q1_HUMAN	olfactory receptor, family 1, subfamily Q, member 1	41					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)	17						ATATTTCTGGCAACTTGGCCA	0.478													10	121					0	0	1	0	0	T	125377139	C	T	125377139	2	4	81	1	0	0	0	0	0	0	0	1	11019	697	25	2		2	OR1Q1	9	125377139	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	61313	125377139	15836292	7496	11112											
OR1L3	26735	broad.mit.edu	37	9	125437648	125437648	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:125437648G>T	ENST00000304820.2	+	1	334	c.240G>T	c.(238-240)aaG>aaT	p.K80N		NM_001005234.1	NP_001005234.1	Q8NH93	OR1L3_HUMAN	olfactory receptor, family 1, subfamily L, member 3	80					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	16						TAGTCCCAAAGATGCTCGTGA	0.388													7	182					2.0095e-06	2.30238e-06	1	1	0	T	125437648	G	T	125437648	3	4	81	1	0	0	0	0	1	0	0	0	11012	933	33	4	242	4	OR1L3	9	125437648	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	60509	125437648	15775783	7497	11113											
OR1L3	26735	broad.mit.edu	37	9	125437739	125437739	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:125437739G>T	ENST00000304820.2	+	1	425	c.331G>T	c.(331-333)Gat>Tat	p.D111Y		NM_001005234.1	NP_001005234.1	Q8NH93	OR1L3_HUMAN	olfactory receptor, family 1, subfamily L, member 3	111					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	16						TGGAAACATAGATAGTTATCT	0.433													52	110					2.24059e-37	3.0047e-37	1	1	0	T	125437739	G	T	125437739	3	4	81	1	0	0	0	0	1	0	0	0	11012	942	33	4	333	4	OR1L3	9	125437739	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	91	125437739	15775692	7498	11114											
OR1L4	254973	broad.mit.edu	37	9	125486357	125486357	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:125486357C>T	ENST00000259466.1	+	1	89	c.89C>T	c.(88-90)gCc>gTc	p.A30V		NM_001005235.1	NP_001005235.1	Q8NGR5	OR1L4_HUMAN	olfactory receptor, family 1, subfamily L, member 4	30					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|large_intestine(3)|lung(13)|prostate(1)|skin(1)	20						CCTCTCTTTGCCATCTTCCTC	0.507													49	58					0	0	1	0	0	T	125486357	C	T	125486357	3	4	81	1	0	0	0	0	1	0	0	0	11013	739	26	2	91	2	OR1L4	9	125486357	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	48618	125486357	15727074	7499	11115											
OR1K1	392392	broad.mit.edu	37	9	125563230	125563230	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:125563230G>A	ENST00000277309.2	+	1	861	c.829G>A	c.(829-831)Gtc>Atc	p.V277I		NM_080859.1	NP_543135.1	Q8NGR3	OR1K1_HUMAN	olfactory receptor, family 1, subfamily K, member 1	277					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(8)|lung(2)|ovary(1)|skin(4)|stomach(1)	17						TGTGGCCACTGTCATGTACAC	0.592													40	44					0	0	1	0	0	A	125563230	G	A	125563230	3	1	81	1	0	0	0	0	1	0	0	0	11010	1377	48	2	831	2	OR1K1	9	125563230	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	76873	125563230	15650201	7500	11116											
RC3H2	54542	broad.mit.edu	37	9	125618095	125618095	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:125618095C>T	ENST00000373670.1	-	13	3117	c.2517G>A	c.(2515-2517)tgG>tgA	p.W839*	RC3H2_ENST00000423239.2_Nonsense_Mutation_p.W839*|RC3H2_ENST00000357244.2_Nonsense_Mutation_p.W839*			Q9HBD1	RC3H2_HUMAN	ring finger and CCCH-type domains 2	839						cell surface|endomembrane system|membrane|membrane fraction|perinuclear region of cytoplasm	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(6)|large_intestine(4)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						TGCCACAAGACCAGGGAGAAT	0.368													32	47					0	0	1	0	0	T	125618095	C	T	125618095	4	4	81	1	0	0	0	0	0	1	0	0	13219	508	18	2	1168	2	RC3H2	9	125618095	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	54865	125618095	15595336	7501	11117											
RABGAP1	23637	broad.mit.edu	37	9	125719414	125719414	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:125719414G>A	ENST00000373647.4	+	2	210	c.76G>A	c.(76-78)Gtc>Atc	p.V26I		NM_012197.3	NP_036329.3	Q9Y3P9	RBGP1_HUMAN	RAB GTPase activating protein 1	26					cell cycle	centrosome|cytosol|microtubule associated complex	Rab GTPase activator activity|tubulin binding			breast(3)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|prostate(4)|stomach(3)|upper_aerodigestive_tract(1)	41						TGAAGATTTTGTCTTGGTTTC	0.383													12	17					0	0	1	0	0	A	125719414	G	A	125719414	3	1	81	1	0	0	0	0	1	0	0	0	13016	1377	48	2	78	2	RABGAP1	9	125719414	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	101319	125719414	15494017	7502	11118											
RABGAP1	23637	broad.mit.edu	37	9	125746809	125746809	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:125746809G>T	ENST00000373647.4	+	3	330	c.196G>T	c.(196-198)Gat>Tat	p.D66Y		NM_012197.3	NP_036329.3	Q9Y3P9	RBGP1_HUMAN	RAB GTPase activating protein 1	66					cell cycle	centrosome|cytosol|microtubule associated complex	Rab GTPase activator activity|tubulin binding			breast(3)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|prostate(4)|stomach(3)|upper_aerodigestive_tract(1)	41						AGAGCTAGCAGATGTACTGAT	0.458													4	29					0.00909568	0.00944708	1	1	0	T	125746809	G	T	125746809	3	4	81	1	0	0	0	0	1	0	0	0	13016	942	33	4	202	4	RABGAP1	9	125746809	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	27395	125746809	15466622	7503	11119											
RABGAP1	23637	broad.mit.edu	37	9	125748528	125748528	+	Silent	SNP	C	C	T	rs151226317		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:125748528C>T	ENST00000373647.4	+	4	554	c.420C>T	c.(418-420)gcC>gcT	p.A140A		NM_012197.3	NP_036329.3	Q9Y3P9	RBGP1_HUMAN	RAB GTPase activating protein 1	140					cell cycle	centrosome|cytosol|microtubule associated complex	Rab GTPase activator activity|tubulin binding			breast(3)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|prostate(4)|stomach(3)|upper_aerodigestive_tract(1)	41						CACCAGTGGCCGATGAGGACA	0.413													24	46					0	0	1	0	0	T	125748528	C	T	125748528	2	4	81	1	0	0	0	0	0	0	0	1	13016	639	23	1		1	RABGAP1	9	125748528	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1719	125748528	15464903	7504	11120											
RABGAP1	23637	broad.mit.edu	37	9	125751629	125751629	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:125751629T>G	ENST00000373647.4	+	5	778	c.644T>G	c.(643-645)aTc>aGc	p.I215S		NM_012197.3	NP_036329.3	Q9Y3P9	RBGP1_HUMAN	RAB GTPase activating protein 1	215	PID.				cell cycle	centrosome|cytosol|microtubule associated complex	Rab GTPase activator activity|tubulin binding			breast(3)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|prostate(4)|stomach(3)|upper_aerodigestive_tract(1)	41						ATCTACAAAATCCTCTTCTGT	0.393													12	102					0	0	1	0	0	G	125751629	T	G	125751629	3	3	81	1	0	0	0	0	1	0	0	0	13016	1435	50	4	658	4	RABGAP1	9	125751629	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	3101	125751629	15461802	7505	11121											
GPR21	2844	broad.mit.edu	37	9	125797635	125797635	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:125797635C>A	ENST00000373642.1	+	1	830	c.790C>A	c.(790-792)Ctc>Atc	p.L264I	RABGAP1_ENST00000373647.4_Intron|RABGAP1_ENST00000493854.1_Intron|RABGAP1_ENST00000373643.5_Intron	NM_005294.1	NP_005285.1	Q99679	GPR21_HUMAN	G protein-coupled receptor 21	264						integral to plasma membrane	G-protein coupled receptor activity			endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	15						ATTTTACATCCTCTGGTTGCC	0.507													35	81					2.19358e-23	2.88969e-23	1	1	0	A	125797635	C	A	125797635	3	1	81	1	0	0	0	0	1	0	0	0	6721	681	24	4	792	4	GPR21	9	125797635	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	46006	125797635	15415796	7506	11122											
CRB2	286204	broad.mit.edu	37	9	126125293	126125293	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:126125293T>C	ENST00000373631.3	+	2	245	c.244T>C	c.(244-246)Tgt>Cgt	p.C82R	CRB2_ENST00000359999.3_Missense_Mutation_p.C82R	NM_173689.5	NP_775960.4	Q5IJ48	CRUM2_HUMAN	crumbs homolog 2 (Drosophila)	82	EGF-like 1.					extracellular region|integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						CGGCGCTCTGTGTGTGCCCCA	0.677													12	31					0	0	1	0	0	C	126125293	T	C	126125293	3	2	81	1	0	0	0	0	1	0	0	0	3872	1696	59	3	250	3	CRB2	9	126125293	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	327658	126125293	15088138	7507	11123											
CRB2	286204	broad.mit.edu	37	9	126125435	126125435	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:126125435G>A	ENST00000373631.3	+	2	387	c.386G>A	c.(385-387)cGc>cAc	p.R129H	CRB2_ENST00000359999.3_Missense_Mutation_p.R129H	NM_173689.5	NP_775960.4	Q5IJ48	CRUM2_HUMAN	crumbs homolog 2 (Drosophila)	129	EGF-like 2; calcium-binding (Potential).					extracellular region|integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						CTGGCCGATCGCTACGAGTGC	0.642													5	7					0	0	1	0	0	A	126125435	G	A	126125435	3	1	81	1	0	0	0	0	1	0	0	0	3872	1087	38	1	392	1	CRB2	9	126125435	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	142	126125435	15087996	7508	11124											
CRB2	286204	broad.mit.edu	37	9	126132729	126132729	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:126132729G>A	ENST00000373631.3	+	7	1398	c.1397G>A	c.(1396-1398)cGc>cAc	p.R466H	CRB2_ENST00000373629.2_Missense_Mutation_p.R134H|CRB2_ENST00000359999.3_Missense_Mutation_p.R466H	NM_173689.5	NP_775960.4	Q5IJ48	CRUM2_HUMAN	crumbs homolog 2 (Drosophila)	466	Laminin G-like 1.					extracellular region|integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						CTGAGGTTTCGCACCACACTG	0.612													16	22					0	0	1	0	0	A	126132729	G	A	126132729	3	1	81	1	0	0	0	0	1	0	0	0	3872	1087	38	1	1423	1	CRB2	9	126132729	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	7294	126132729	15080702	7509	11125											
DENND1A	57706	broad.mit.edu	37	9	126146102	126146102	+	Silent	SNP	G	G	A	rs145330954	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:126146102G>A	ENST00000373624.2	-	21	1869	c.1668C>T	c.(1666-1668)ggC>ggT	p.G556G	DENND1A_ENST00000542603.1_Silent_p.G341G|DENND1A_ENST00000473039.1_5'UTR|DENND1A_ENST00000394219.3_Silent_p.G567G	NM_020946.1	NP_065997.1	Q8TEH3	DEN1A_HUMAN	DENN/MADD domain containing 1A	556						cell junction|clathrin coated vesicle membrane|presynaptic membrane	guanyl-nucleotide exchange factor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|liver(2)|lung(18)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						CTGGGACAGGGCCTGTGGACT	0.657													34	66					0	0	1	0	0	A	126146102	G	A	126146102	2	1	81	1	0	0	0	0	0	0	0	1	4454	1190	42	2		2	DENND1A	9	126146102	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	13373	126146102	15067329	7510	11126											
DENND1A	57706	broad.mit.edu	37	9	126371738	126371738	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:126371738C>A	ENST00000373624.2	-	11	943	c.742G>T	c.(742-744)Gga>Tga	p.G248*	DENND1A_ENST00000542603.1_Nonsense_Mutation_p.G32*|DENND1A_ENST00000473039.1_5'UTR|DENND1A_ENST00000394215.2_Nonsense_Mutation_p.G218*|DENND1A_ENST00000394219.3_Nonsense_Mutation_p.G216*|DENND1A_ENST00000373618.1_Nonsense_Mutation_p.G216*|DENND1A_ENST00000373620.3_Nonsense_Mutation_p.G248*	NM_020946.1	NP_065997.1	Q8TEH3	DEN1A_HUMAN	DENN/MADD domain containing 1A	248	DENN.					cell junction|clathrin coated vesicle membrane|presynaptic membrane	guanyl-nucleotide exchange factor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|liver(2)|lung(18)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						AAATGGATTCCTATGAGGTAG	0.458													4	40					0.150653	0.152522	1	1	0	A	126371738	C	A	126371738	4	1	81	1	0	0	0	0	0	1	0	0	4454	690	24	4	2442	4	DENND1A	9	126371738	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	225636	126371738	14841693	7511	11127											
DENND1A	57706	broad.mit.edu	37	9	126520032	126520032	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:126520032G>A	ENST00000373624.2	-	5	453	c.252C>T	c.(250-252)ttC>ttT	p.F84F	DENND1A_ENST00000473039.1_5'UTR|DENND1A_ENST00000394215.2_Silent_p.F54F|DENND1A_ENST00000394219.3_Silent_p.F52F|DENND1A_ENST00000373618.1_Silent_p.F52F|DENND1A_ENST00000373620.3_Silent_p.F84F	NM_020946.1	NP_065997.1	Q8TEH3	DEN1A_HUMAN	DENN/MADD domain containing 1A	84	UDENN.					cell junction|clathrin coated vesicle membrane|presynaptic membrane	guanyl-nucleotide exchange factor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|liver(2)|lung(18)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						GGCAGAACCCGAATCTCTGTT	0.493													24	23					0	0	1	0	0	A	126520032	G	A	126520032	2	1	81	1	0	0	0	0	0	0	0	1	4454	1049	37	1		1	DENND1A	9	126520032	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	148294	126520032	14693399	7512	11128											
NR5A1	2516	broad.mit.edu	37	9	127245118	127245118	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:127245118C>A	ENST00000373588.4	-	7	1501	c.1305G>T	c.(1303-1305)gaG>gaT	p.E435D		NM_004959.4	NP_004950.2	Q13285	STF1_HUMAN	nuclear receptor subfamily 5, group A, member 1	435	Important for dimerization.				cell-cell signaling|male gonad development|positive regulation of transcription from RNA polymerase II promoter|primary sex determination|regulation of steroid biosynthetic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	enzyme binding|phospholipid binding|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding			lung(1)|upper_aerodigestive_tract(1)	2						GGTACAGGTACTCCTTGGCCT	0.627													5	9					0.0215528	0.0221217	1	1	0	A	127245118	C	A	127245118	3	1	81	1	0	0	0	0	1	0	0	0	10683	564	20	4	84	4	NR5A1	9	127245118	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	725086	127245118	13968313	7513	11129											
NR6A1	2649	broad.mit.edu	37	9	127298239	127298239	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:127298239G>T	ENST00000487099.2	-	7	1154	c.997C>A	c.(997-999)Ctc>Atc	p.L333I	NR6A1_ENST00000373584.3_Missense_Mutation_p.L329I|NR6A1_ENST00000344523.4_Missense_Mutation_p.L332I|NR6A1_ENST00000416460.2_Missense_Mutation_p.L328I	NM_001278546.1	NP_001265475.1	Q15406	NR6A1_HUMAN	nuclear receptor subfamily 6, group A, member 1	333					cell proliferation|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|spermatogenesis	transcription factor complex	protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			NS(1)|breast(1)|cervix(1)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	17						TAAACGGTGAGGGAAGACAGC	0.532													10	82					2.74318e-10	3.35469e-10	1	1	0	T	127298239	G	T	127298239	3	4	81	1	0	0	0	0	1	0	0	0	10685	1000	35	4	461	4	NR6A1	9	127298239	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	53121	127298239	13915192	7514	11130											
RPL35	11224	broad.mit.edu	37	9	127620260	127620260	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:127620260C>A	ENST00000348462.3	-	4	357	c.309G>T	c.(307-309)aaG>aaT	p.K103N	RPL35_ENST00000373570.4_3'UTR	NM_007209.3	NP_009140.1	P42766	RL35_HUMAN	ribosomal protein L35	103					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	mRNA binding|protein binding|structural constituent of ribosome			breast(1)|large_intestine(1)|lung(1)|ovary(1)	4				GBM - Glioblastoma multiforme(294;0.182)		GCTTCTTGGTCTTCAGGTTCT	0.607													4	28					0.00116845	0.00124301	1	1	0	A	127620260	C	A	127620260	3	1	81	1	0	0	0	0	1	0	0	0	13636	912	32	4	66	4	RPL35	9	127620260	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	322021	127620260	13593171	7515	11131											
GOLGA1	2800	broad.mit.edu	37	9	127674201	127674201	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:127674201G>A	ENST00000373555.4	-	11	1281	c.948C>T	c.(946-948)caC>caT	p.H316H		NM_002077.3	NP_002068	Q92805	GOGA1_HUMAN	golgin A1	316						Golgi cisterna membrane				NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	20						GTTCTTGCAAGTGTTCTTCTC	0.438													8	80					0	0	1	0	0	A	127674201	G	A	127674201	2	1	81	1	0	0	0	0	0	0	0	1	6593	1020	36	2		2	GOLGA1	9	127674201	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	53941	127674201	13539230	7516	11132											
SCAI	286205	broad.mit.edu	37	9	127765751	127765751	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:127765751C>T	ENST00000336505.6	-	10	1018	c.960G>A	c.(958-960)atG>atA	p.M320I	SCAI_ENST00000373549.4_Missense_Mutation_p.M343I|SCAI_ENST00000487795.1_5'UTR	NM_001144877.2	NP_001138349.1	Q8N9R8	SCAI_HUMAN	suppressor of cancer cell invasion						negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|integral to membrane|nucleus	protein binding|transcription corepressor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(5)|stomach(1)|urinary_tract(1)	35						AGATTACCTGCATTCCTGGTT	0.423													4	46					0	0	1	0	0	T	127765751	C	T	127765751	3	4	81	1	0	0	0	0	1	0	0	0	13922	710	25	2	896	2	SCAI	9	127765751	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	91550	127765751	13447680	7517	11133											
RABEPK	10244	broad.mit.edu	37	9	127990304	127990304	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:127990304C>T	ENST00000373538.3	+	6	952	c.642C>T	c.(640-642)gaC>gaT	p.D214D	RABEPK_ENST00000259460.8_Silent_p.D163D|RABEPK_ENST00000394124.4_3'UTR|RABEPK_ENST00000394125.4_Silent_p.D214D	NM_005833.3	NP_005824.2	Q7Z6M1	RABEK_HUMAN	Rab9 effector protein with kelch motifs	214					receptor-mediated endocytosis|vesicle docking involved in exocytosis	endosome membrane|plasma membrane				NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15						TGGCGGGGGACAGATTCTATG	0.453													3	20					0	0	1	0	0	T	127990304	C	T	127990304	2	4	81	1	0	0	0	0	0	0	0	1	13015	477	17	2		2	RABEPK	9	127990304	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	224553	127990304	13223127	7518	11134											
GAPVD1	26130	broad.mit.edu	37	9	128124975	128124975	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:128124975C>T	ENST00000470056.1	+	25	4412	c.4252C>T	c.(4252-4254)Cag>Tag	p.Q1418*	GAPVD1_ENST00000394083.2_Nonsense_Mutation_p.Q1397*|GAPVD1_ENST00000394104.2_Nonsense_Mutation_p.Q1463*|GAPVD1_ENST00000312123.9_Nonsense_Mutation_p.Q1424*|GAPVD1_ENST00000297933.6_Nonsense_Mutation_p.Q1445*|GAPVD1_ENST00000265956.4_Nonsense_Mutation_p.Q1437*|GAPVD1_ENST00000495955.1_Nonsense_Mutation_p.Q1463*|GAPVD1_ENST00000394105.2_Nonsense_Mutation_p.Q1472*			Q14C86	GAPD1_HUMAN	GTPase activating protein and VPS9 domains 1	1463	VPS9.				endocytosis|regulation of protein transport|regulation of small GTPase mediated signal transduction|signal transduction	cytosol|endosome|membrane	GTPase activating protein binding|GTPase activator activity|guanyl-nucleotide exchange factor activity			central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						TTGGTGGATGCAGTTCACAGC	0.458													34	38					0	0	1	0	0	T	128124975	C	T	128124975	4	4	81	1	0	0	0	0	0	1	0	0	6279	711	25	2	4516	2	GAPVD1	9	128124975	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	134671	128124975	13088456	7519	11135											
MAPKAP1	79109	broad.mit.edu	37	9	128305420	128305420	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:128305420A>G	ENST00000265960.3	-	7	1208	c.876T>C	c.(874-876)atT>atC	p.I292I	MAPKAP1_ENST00000350766.3_Silent_p.I292I|MAPKAP1_ENST00000373503.3_Silent_p.I100I|MAPKAP1_ENST00000373511.2_Silent_p.I292I|MAPKAP1_ENST00000373497.5_Silent_p.I41I|MAPKAP1_ENST00000373498.1_Silent_p.I292I|MAPKAP1_ENST00000394060.3_Silent_p.I292I|MAPKAP1_ENST00000394063.1_Silent_p.I100I	NM_001006617.1	NP_001006618.1	Q9BPZ7	SIN1_HUMAN	mitogen-activated protein kinase associated protein 1	292					nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|response to stress|T cell costimulation	cytoplasmic membrane-bounded vesicle|cytosol|nucleus|plasma membrane	Ras GTPase binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(15)|ovary(3)	23						TGTCCACCTGAATAAGGGAGA	0.393													16	92					0	0	1	0	0	G	128305420	A	G	128305420	2	3	81	1	0	0	0	0	0	0	0	1	9338	242	9	3		3	MAPKAP1	9	128305420	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	180445	128305420	12908011	7520	11136											
ZBTB43	23099	broad.mit.edu	37	9	129596169	129596169	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:129596169C>T	ENST00000373464.4	+	3	1645	c.1381C>T	c.(1381-1383)Cag>Tag	p.Q461*	ZBTB43_ENST00000449886.1_Nonsense_Mutation_p.Q461*|ZBTB43_ENST00000373457.1_Nonsense_Mutation_p.Q461*	NM_014007.3	NP_054726.1	O43298	ZBT43_HUMAN	zinc finger and BTB domain containing 43	461					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						AAAGGCTGAGCAGAATACAAC	0.428													52	90					0	0	1	0	0	T	129596169	C	T	129596169	4	4	81	1	0	0	0	0	0	1	0	0	17603	711	25	2	1383	2	ZBTB43	9	129596169	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1290749	129596169	11617262	7521	11137											
ZBTB34	403341	broad.mit.edu	37	9	129643140	129643140	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:129643140A>G	ENST00000319119.4	+	2	1547	c.1462A>G	c.(1462-1464)Atg>Gtg	p.M488V	ZBTB34_ENST00000373452.2_Missense_Mutation_p.M484V	NM_001099270.1	NP_001092740.1	Q8NCN2	ZBT34_HUMAN	zinc finger and BTB domain containing 34	484					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(2)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	12						GGCCTCAGAGATGGGCCTAGA	0.483													7	29					0	0	1	0	0	G	129643140	A	G	129643140	3	3	81	1	0	0	0	0	1	0	0	0	17596	333	12	3	1452	3	ZBTB34	9	129643140	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	46971	129643140	11570291	7522	11138											
ANGPTL2	23452	broad.mit.edu	37	9	129870903	129870903	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:129870903T>C	ENST00000373425.3	-	2	725	c.108A>G	c.(106-108)agA>agG	p.R36R	RALGPS1_ENST00000373436.1_Intron|RALGPS1_ENST00000424082.2_Intron|RALGPS1_ENST00000373434.1_Intron|RALGPS1_ENST00000259351.5_Intron|ANGPTL2_ENST00000373417.1_Intron|RALGPS1_ENST00000394022.3_Intron	NM_012098.2	NP_036230.1	Q9UKU9	ANGL2_HUMAN	angiopoietin-like 2	36					multicellular organismal development|signal transduction	extracellular space	receptor binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|urinary_tract(1)	18						AAATGAACTCTCTTGGCGAGC	0.607													4	47					0	0	1	0	0	C	129870903	T	C	129870903	2	2	81	1	0	0	0	0	0	0	0	1	610	1548	54	3		3	ANGPTL2	9	129870903	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	227763	129870903	11342528	7523	11139											
RALGPS1	9649	broad.mit.edu	37	9	129937013	129937013	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:129937013C>T	ENST00000259351.5	+	11	1129	c.862C>T	c.(862-864)Cca>Tca	p.P288S	RALGPS1_ENST00000373436.1_Missense_Mutation_p.P288S|RALGPS1_ENST00000424082.2_Missense_Mutation_p.P288S|RALGPS1_ENST00000373434.1_Missense_Mutation_p.P288S|RALGPS1_ENST00000394022.3_Missense_Mutation_p.P288S	NM_014636.2	NP_055451.1	Q5JS13	RGPS1_HUMAN	Ral GEF with PH domain and SH3 binding motif 1	288	Ras-GEF.				small GTPase mediated signal transduction	cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity			kidney(2)|large_intestine(6)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						CAGAATCGAACCAGGAAGCAG	0.468													53	89					0	0	1	0	0	T	129937013	C	T	129937013	3	4	81	1	0	0	0	0	1	0	0	0	13069	507	18	2	900	2	RALGPS1	9	129937013	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	66110	129937013	11276418	7524	11140											
GARNL3	84253	broad.mit.edu	37	9	130027191	130027191	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:130027191G>T	ENST00000373387.4	+	1	387	c.35G>T	c.(34-36)aGa>aTa	p.R12I	GARNL3_ENST00000314904.5_Missense_Mutation_p.R12I|GARNL3_ENST00000435213.2_Intron	NM_032293.4	NP_115669.3	Q5VVW2	GARL3_HUMAN	GTPase activating Rap/RanGAP domain-like 3	12					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity|small GTPase regulator activity			NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(24)|ovary(1)|skin(1)|urinary_tract(2)	41						TTTGTGGCCAGATCGCTATGT	0.478													8	82					0.000157383	0.000171784	1	1	0	T	130027191	G	T	130027191	3	4	81	1	0	0	0	0	1	0	0	0	6281	942	33	4	37	4	GARNL3	9	130027191	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	90178	130027191	11186240	7525	11141											
GARNL3	84253	broad.mit.edu	37	9	130083004	130083004	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:130083004C>A	ENST00000373387.4	+	6	866	c.514C>A	c.(514-516)Ctg>Atg	p.L172M	GARNL3_ENST00000314904.5_Missense_Mutation_p.L172M|GARNL3_ENST00000435213.2_Missense_Mutation_p.L150M	NM_032293.4	NP_115669.3	Q5VVW2	GARL3_HUMAN	GTPase activating Rap/RanGAP domain-like 3	172					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity|small GTPase regulator activity			NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(24)|ovary(1)|skin(1)|urinary_tract(2)	41						TGCCATGAATCTGGACAAATT	0.378													8	23					0.000274275	0.000297259	1	1	0	A	130083004	C	A	130083004	3	1	81	1	0	0	0	0	1	0	0	0	6281	912	32	4	536	4	GARNL3	9	130083004	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	55813	130083004	11130427	7526	11142											
ZNF79	7633	broad.mit.edu	37	9	130207444	130207444	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:130207444G>A	ENST00000342483.5	+	5	1871	c.1465G>A	c.(1465-1467)Gtt>Att	p.V489I	ZNF79_ENST00000543471.1_Missense_Mutation_p.V465I	NM_007135.2	NP_009066.2	Q15937	ZNF79_HUMAN	zinc finger protein 79	489					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|stomach(2)	28						CTCTGCCTTCGTTAGACATCA	0.557													47	88					0	0	1	0	0	A	130207444	G	A	130207444	3	1	81	1	0	0	0	0	1	0	0	0	18210	1145	40	1	1483	1	ZNF79	9	130207444	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	124440	130207444	11005987	7527	11143											
LRSAM1	90678	broad.mit.edu	37	9	130259537	130259537	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:130259537C>T	ENST00000323301.4	+	23	2440	c.1836C>T	c.(1834-1836)ggC>ggT	p.G612G	LRSAM1_ENST00000373322.1_Silent_p.G612G|LRSAM1_ENST00000373324.4_Silent_p.G585G|LRSAM1_ENST00000300417.6_Silent_p.G612G|LRSAM1_ENST00000483302.1_3'UTR	NM_138361.5	NP_612370.3	Q6UWE0	LRSM1_HUMAN	leucine rich repeat and sterile alpha motif containing 1	612	SAM.				negative regulation of endocytosis|non-lytic virus budding|protein autoubiquitination|protein catabolic process|protein polyubiquitination|protein transport|ubiquitin-dependent endocytosis	cytoplasm|extracellular region|membrane part	hormone activity|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(2)	16						CACAGGTGGGCGTCTCAGAAG	0.622													14	28					0	0	1	0	0	T	130259537	C	T	130259537	2	4	81	1	0	0	0	0	0	0	0	1	9088	755	27	1		1	LRSAM1	9	130259537	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	52093	130259537	10953894	7528	11144											
STXBP1	6812	broad.mit.edu	37	9	130444731	130444731	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:130444731C>T	ENST00000373302.3	+	18	1733	c.1594C>T	c.(1594-1596)Cgc>Tgc	p.R532C	STXBP1_ENST00000481942.1_Intron|STXBP1_ENST00000373299.1_Missense_Mutation_p.R532C	NM_003165.3	NP_003156.1	P61764	STXB1_HUMAN	syntaxin binding protein 1	532					axon target recognition|energy reserve metabolic process|glutamate secretion|negative regulation of synaptic transmission, GABAergic|neurotransmitter secretion|platelet aggregation|platelet degranulation|protein transport|regulation of insulin secretion|regulation of synaptic vesicle priming|synaptic vesicle maturation|vesicle docking involved in exocytosis	cytosol|mitochondrion|plasma membrane|platelet alpha granule|protein complex	identical protein binding|syntaxin-1 binding|syntaxin-2 binding			breast(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|skin(2)	23						AGGCGAGTACCGCAGTGGCCC	0.572													27	33					0	0	1	0	0	T	130444731	C	T	130444731	3	4	81	1	0	0	0	0	1	0	0	0	15408	652	23	1	1664	1	STXBP1	9	130444731	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	185194	130444731	10768700	7529	11145											
TTC16	158248	broad.mit.edu	37	9	130493461	130493461	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:130493461G>A	ENST00000373289.3	+	14	2479	c.2399G>A	c.(2398-2400)cGa>cAa	p.R800Q	TTC16_ENST00000489226.1_3'UTR	NM_144965.1	NP_659402.1	Q8NEE8	TTC16_HUMAN	tetratricopeptide repeat domain 16	800							binding			central_nervous_system(2)|endometrium(3)|lung(7)|ovary(3)|pancreas(2)|prostate(4)|skin(1)	22						GGACTGCTCCGAAGTTCCACC	0.602													4	25					0	0	1	0	0	A	130493461	G	A	130493461	3	1	81	1	0	0	0	0	1	0	0	0	16745	1058	37	1	2453	1	TTC16	9	130493461	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	48730	130493461	10719970	7530	11146											
TTC16	158248	broad.mit.edu	37	9	130493506	130493506	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:130493506T>A	ENST00000373289.3	+	14	2524	c.2444T>A	c.(2443-2445)cTc>cAc	p.L815H	TTC16_ENST00000489226.1_3'UTR	NM_144965.1	NP_659402.1	Q8NEE8	TTC16_HUMAN	tetratricopeptide repeat domain 16	815							binding			central_nervous_system(2)|endometrium(3)|lung(7)|ovary(3)|pancreas(2)|prostate(4)|skin(1)	22						AACTGGAGCCTCAGCAAAACT	0.597													15	31					0	0	1	0	0	A	130493506	T	A	130493506	3	1	81	1	0	0	0	0	1	0	0	0	16745	1551	54	5	2498	5	TTC16	9	130493506	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	45	130493506	10719925	7531	11147											
TOR2A	27433	broad.mit.edu	37	9	130495551	130495551	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:130495551C>T	ENST00000373281.5	-	3	729	c.706G>A	c.(706-708)Gct>Act	p.A236T	TOR2A_ENST00000373284.5_Intron|TOR2A_ENST00000472723.1_5'UTR|TOR2A_ENST00000336067.6_Intron|TOR2A_ENST00000458505.3_3'UTR	NM_130459.3	NP_569726.2	Q5JU69	TOR2A_HUMAN	torsin family 2, member A	0					chaperone mediated protein folding requiring cofactor	endoplasmic reticulum|extracellular region	ATP binding|nucleoside-triphosphatase activity			NS(1)|endometrium(2)	3						ACTGGGAAAGCCCAGCTAAGC	0.542													29	60					0	0	1	0	0	T	130495551	C	T	130495551	3	4	81	1	0	0	0	0	1	0	0	0	16436	739	26	2	440	2	TOR2A	9	130495551	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2045	130495551	10717880	7532	11148											
ST6GALNAC6	30815	broad.mit.edu	37	9	130653134	130653134	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:130653134G>A	ENST00000373146.1	-	5	665	c.486C>T	c.(484-486)ttC>ttT	p.F162F	ST6GALNAC6_ENST00000373142.1_Silent_p.F162F|ST6GALNAC6_ENST00000291839.5_Silent_p.F162F|ST6GALNAC6_ENST00000373141.1_Silent_p.F128F|ST6GALNAC6_ENST00000542456.1_Intron|ST6GALNAC6_ENST00000373144.3_Silent_p.F128F|ST6GALNAC6_ENST00000485320.1_5'UTR			Q969X2	SIA7F_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 6	162					protein glycosylation	integral to Golgi membrane|plasma membrane				endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						TCAGCACGCGGAACACACTGG	0.602													10	17					0	0	1	0	0	A	130653134	G	A	130653134	2	1	81	1	0	0	0	0	0	0	0	1	15284	1165	41	2		2	ST6GALNAC6	9	130653134	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	157583	130653134	10560297	7533	11149											
SLC25A25	114789	broad.mit.edu	37	9	130868649	130868649	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:130868649G>T	ENST00000373066.5	+	9	1427	c.1020G>T	c.(1018-1020)atG>atT	p.M340I	SLC25A25_ENST00000373069.5_Missense_Mutation_p.M354I|SLC25A25_ENST00000373068.2_Missense_Mutation_p.M342I|SLC25A25_ENST00000373064.5_Missense_Mutation_p.M308I|SLC25A25_ENST00000433501.1_Missense_Mutation_p.M205I|SLC25A25_ENST00000432073.2_Missense_Mutation_p.M328I	NM_001265614.2	NP_001252543.1	Q6KCM7	SCMC2_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 25	308					transmembrane transport	integral to membrane|mitochondrial inner membrane	calcium ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)	10						AGACCCGGATGGCGCTGCGGA	0.657													6	44					8.12818e-05	8.94031e-05	1	1	0	T	130868649	G	T	130868649	3	4	81	1	0	0	0	0	1	0	0	0	14543	1348	47	5	1442	5	SLC25A25	9	130868649	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	215515	130868649	10344782	7534	11150											
CIZ1	25792	broad.mit.edu	37	9	130931346	130931346	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:130931346C>T	ENST00000538431.1	-	15	2605	c.2358G>A	c.(2356-2358)gaG>gaA	p.E786E	CIZ1_ENST00000476727.2_5'UTR|CIZ1_ENST00000393608.1_Silent_p.E760E|CIZ1_ENST00000372954.1_Silent_p.E680E|CIZ1_ENST00000541172.1_Silent_p.E659E|CIZ1_ENST00000277465.4_Silent_p.E732E|CIZ1_ENST00000357558.5_Silent_p.E732E|CIZ1_ENST00000372938.5_Silent_p.E760E|CIZ1_ENST00000372948.3_Silent_p.E704E|CIZ1_ENST00000325721.8_Silent_p.E731E	NM_001257975.1	NP_001244904.1	Q9ULV3	CIZ1_HUMAN	CDKN1A interacting zinc finger protein 1	760						nucleus	nucleic acid binding|protein binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|liver(1)|lung(9)|ovary(3)|prostate(2)|urinary_tract(2)	35						TGCAGAGTtcctcctcaacct	0.582													43	65					0	0	1	0	0	T	130931346	C	T	130931346	2	4	81	1	0	0	0	0	0	0	0	1	3464	680	24	2		2	CIZ1	9	130931346	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	62697	130931346	10282085	7535	11151											
CIZ1	25792	broad.mit.edu	37	9	130941595	130941595	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:130941595G>T	ENST00000538431.1	-	8	1138	c.891C>A	c.(889-891)gaC>gaA	p.D297E	CIZ1_ENST00000325721.8_Missense_Mutation_p.D268E|CIZ1_ENST00000476727.2_Intron|CIZ1_ENST00000393608.1_Missense_Mutation_p.D297E|CIZ1_ENST00000372948.3_Missense_Mutation_p.D297E|CIZ1_ENST00000372954.1_Missense_Mutation_p.D273E|CIZ1_ENST00000541172.1_Missense_Mutation_p.D196E|CIZ1_ENST00000357558.5_Missense_Mutation_p.D297E|CIZ1_ENST00000277465.4_Missense_Mutation_p.D297E|CIZ1_ENST00000372938.5_Missense_Mutation_p.D297E	NM_001257975.1	NP_001244904.1	Q9ULV3	CIZ1_HUMAN	CDKN1A interacting zinc finger protein 1	297	Gln-rich.					nucleus	nucleic acid binding|protein binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|liver(1)|lung(9)|ovary(3)|prostate(2)|urinary_tract(2)	35						CAGGCAGCAGGTCTGGTGTCT	0.627													34	47					1.836e-18	2.38158e-18	1	1	0	T	130941595	G	T	130941595	3	4	81	1	0	0	0	0	1	0	0	0	3464	1252	44	5	1845	5	CIZ1	9	130941595	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	10249	130941595	10271836	7536	11152											
GOLGA2	2801	broad.mit.edu	37	9	131019676	131019676	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:131019676C>A	ENST00000421699.2	-	25	2778	c.2766G>T	c.(2764-2766)caG>caT	p.Q922H	GOLGA2_ENST00000609374.1_Missense_Mutation_p.Q910H	NM_004486.4	NP_004477.3	Q08379	GOGA2_HUMAN	golgin A2	922						Golgi cisterna membrane	protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34						CCCCAAGTTCCTGGGGGGCTG	0.667													14	13					1.49906e-05	1.6816e-05	1	1	0	A	131019676	C	A	131019676	3	1	81	1	0	0	0	0	1	0	0	0	6594	680	24	4	250	4	GOLGA2	9	131019676	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	78081	131019676	10193755	7537	11153											
GOLGA2	2801	broad.mit.edu	37	9	131022831	131022831	+	Silent	SNP	G	G	A	rs144463156		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:131022831G>A	ENST00000421699.2	-	17	1602	c.1590C>T	c.(1588-1590)aaC>aaT	p.N530N	GOLGA2_ENST00000609374.1_Silent_p.N518N	NM_004486.4	NP_004477.3	Q08379	GOGA2_HUMAN	golgin A2	530						Golgi cisterna membrane	protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34						TAGTGCGGTCGTTCTGCATGG	0.667													68	99					0	0	1	0	0	A	131022831	G	A	131022831	2	1	81	1	0	0	0	0	0	0	0	1	6594	1136	40	1		1	GOLGA2	9	131022831	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	3155	131022831	10190600	7538	11154											
GOLGA2	2801	broad.mit.edu	37	9	131029534	131029534	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:131029534G>A	ENST00000421699.2	-	7	512	c.500C>T	c.(499-501)gCg>gTg	p.A167V	GOLGA2_ENST00000609374.1_Missense_Mutation_p.A155V	NM_004486.4	NP_004477.3	Q08379	GOGA2_HUMAN	golgin A2	167						Golgi cisterna membrane	protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34						CAGGGCTACCGCTAGCTGTTG	0.522													29	36					0	0	1	0	0	A	131029534	G	A	131029534	3	1	81	1	0	0	0	0	1	0	0	0	6594	1087	38	1	2588	1	GOLGA2	9	131029534	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	6703	131029534	10183897	7539	11155											
CERCAM	51148	broad.mit.edu	37	9	131185490	131185490	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:131185490T>A	ENST00000372842.1	+	4	3284	c.140T>A	c.(139-141)cTg>cAg	p.L47Q	CERCAM_ENST00000372838.4_Missense_Mutation_p.L125Q			Q5T4B2	GT253_HUMAN	cerebral endothelial cell adhesion molecule	125					cellular component movement|leukocyte cell-cell adhesion|lipopolysaccharide biosynthetic process	endoplasmic reticulum lumen|plasma membrane				endometrium(2)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|pancreas(2)	20						CTGATGGAGCTGAAGCAGGAA	0.547													47	99					0	0	1	0	0	A	131185490	T	A	131185490	3	1	81	1	0	0	0	0	1	0	0	0	3288	1580	55	5	384	5	CERCAM	9	131185490	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	155956	131185490	10027941	7540	11156											
SPTAN1	6709	broad.mit.edu	37	9	131371422	131371422	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:131371422G>T	ENST00000372739.3	+	36	4727	c.4617G>T	c.(4615-4617)caG>caT	p.Q1539H	SPTAN1_ENST00000372731.4_Missense_Mutation_p.Q1539H|SPTAN1_ENST00000358161.5_Missense_Mutation_p.Q1539H	NM_001130438.2	NP_001123910.1	Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	1539					actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						TGAAAGCCCAGATGATTGAGA	0.478													4	60					0.217242	0.218703	1	1	0	T	131371422	G	T	131371422	3	4	81	1	0	0	0	0	1	0	0	0	15173	933	33	4	4755	4	SPTAN1	9	131371422	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	185932	131371422	9842009	7541	11157											
SET	6418	broad.mit.edu	37	9	131456919	131456919	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:131456919G>T	ENST00000322030.8	+	8	1167		c.e8-1		SET_ENST00000372688.4_Splice_Site|SET_ENST00000372692.4_Splice_Site|SET_ENST00000409104.3_Splice_Site	NM_003011.3	NP_003002.2	Q01105	SET_HUMAN	SET nuclear oncogene						DNA replication|mRNA metabolic process|negative regulation of histone acetylation|negative regulation of neuron apoptosis|negative regulation of transcription, DNA-dependent|nucleocytoplasmic transport|nucleosome assembly|nucleosome disassembly	cytosol|endoplasmic reticulum|nucleoplasm|perinuclear region of cytoplasm|protein complex	histone binding|protein phosphatase inhibitor activity|protein phosphatase type 2A regulator activity			endometrium(2)|kidney(1)|lung(2)	5		Myeloproliferative disorder(178;0.204)		GBM - Glioblastoma multiforme(294;3.1e-09)		TTTTCTTTCAGGAGGATGAAG	0.443			T	NUP214	AML								8	84					0.00307968	0.00324365	1	1	0	T	131456919	G	T	131456919	5	4	81	1	0	0	0	0	0	0	1	0	14182	1014	35	4	956	4	SET	9	131456919	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	85497	131456919	9756512	7542	11158											
PKN3	29941	broad.mit.edu	37	9	131479061	131479061	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:131479061G>A	ENST00000291906.4	+	16	2237	c.1844G>A	c.(1843-1845)gGc>gAc	p.G615D	PKN3_ENST00000485301.1_3'UTR	NM_013355.3	NP_037487.2	Q6P5Z2	PKN3_HUMAN	protein kinase N3	615	Protein kinase.				signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm	ATP binding|protein binding|protein kinase C activity			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24						GAGGCTGTGGGCTGCACAGGG	0.582													50	62					0	0	1	0	0	A	131479061	G	A	131479061	3	1	81	1	0	0	0	0	1	0	0	0	12029	1203	42	2	1906	2	PKN3	9	131479061	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	22142	131479061	9734370	7543	11159											
ZDHHC12	84885	broad.mit.edu	37	9	131484064	131484064	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:131484064G>A	ENST00000372667.5	-	4	419	c.390C>T	c.(388-390)tgC>tgT	p.C130C	ZDHHC12_ENST00000467312.1_5'UTR|ZDHHC12_ENST00000372672.2_Silent_p.C116C|ZDHHC12_ENST00000372663.4_Silent_p.C116C			Q96GR4	ZDH12_HUMAN	zinc finger, DHHC-type containing 12	116						integral to membrane	acyltransferase activity|zinc ion binding			central_nervous_system(1)|ovary(2)|upper_aerodigestive_tract(1)	4						CGCAACGGCGGCACTCACGGC	0.662													38	54					0	0	1	0	0	A	131484064	G	A	131484064	2	1	81	1	0	0	0	0	0	0	0	1	17660	1195	42	2		2	ZDHHC12	9	131484064	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	5003	131484064	9729367	7544	11160											
ZER1	10444	broad.mit.edu	37	9	131502228	131502228	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:131502228C>T	ENST00000291900.2	-	13	2430	c.2024G>A	c.(2023-2025)cGg>cAg	p.R675Q		NM_006336.2	NP_006327.2	Q7Z7L7	ZER1_HUMAN	zyg-11 related, cell cycle regulator	675					ATP hydrolysis coupled proton transport|regulation of ubiquitin-protein ligase activity	Cul2-RING ubiquitin ligase complex|vacuolar proton-transporting V-type ATPase, V1 domain	protein binding|proton-transporting ATPase activity, rotational mechanism|ubiquitin-protein ligase activity	p.R675Q(1)		endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	15						GATGTTTCTCCGAGAGTTTAT	0.582													21	32					0	0	1	0	0	T	131502228	C	T	131502228	3	4	81	1	0	0	0	0	1	0	0	0	17683	652	23	1	292	1	ZER1	9	131502228	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	18164	131502228	9711203	7545	11161											
TBC1D13	54662	broad.mit.edu	37	9	131559450	131559450	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:131559450T>G	ENST00000372648.5	+	7	650	c.500T>G	c.(499-501)cTg>cGg	p.L167R	TBC1D13_ENST00000223865.8_Missense_Mutation_p.L167R|TBC1D13_ENST00000539497.1_5'UTR|TBC1D13_ENST00000466056.1_3'UTR	NM_018201.3	NP_060671.3	Q9NVG8	TBC13_HUMAN	TBC1 domain family, member 13	167	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	6						CAGACAACACTGAAATCTCAG	0.527													41	62					0	0	1	0	0	G	131559450	T	G	131559450	3	3	81	1	0	0	0	0	1	0	0	0	15659	1580	55	5	526	5	TBC1D13	9	131559450	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	57222	131559450	9653981	7546	11162											
CCBL1	883	broad.mit.edu	37	9	131597777	131597777	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:131597777G>A	ENST00000436267.2	-	12	1456	c.1307C>T	c.(1306-1308)aCa>aTa	p.T436I	CCBL1_ENST00000302586.3_Missense_Mutation_p.T342I|CCBL1_ENST00000320665.6_Missense_Mutation_p.T292I|CCBL1_ENST00000483599.1_5'UTR			Q16773	KAT1_HUMAN	cysteine conjugate-beta lyase, cytoplasmic	342					kynurenine metabolic process|L-phenylalanine catabolic process|tryptophan catabolic process	cytosol|nucleus	1-aminocyclopropane-1-carboxylate synthase activity|cysteine-S-conjugate beta-lyase activity|glutamine-phenylpyruvate transaminase activity|kynurenine-oxoglutarate transaminase activity|L-glutamine:pyruvate aminotransferase activity|L-phenylalanine:pyruvate aminotransferase activity|protein homodimerization activity|pyridoxal phosphate binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1)	18					L-Glutamine(DB00130)|Pyridoxal Phosphate(DB00114)	TGAGATGTCTGTGATGAGGAA	0.617													25	40					0	0	1	0	0	A	131597777	G	A	131597777	3	1	81	1	0	0	0	0	1	0	0	0	2750	1377	48	2	259	2	CCBL1	9	131597777	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	38327	131597777	9615654	7547	11163											
CCBL1	883	broad.mit.edu	37	9	131605002	131605002	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:131605002G>A	ENST00000436267.2	-	5	563	c.414C>T	c.(412-414)gaC>gaT	p.D138D	CCBL1_ENST00000302586.3_Silent_p.D44D|CCBL1_ENST00000320665.6_Silent_p.D44D|CCBL1_ENST00000483599.1_5'UTR			Q16773	KAT1_HUMAN	cysteine conjugate-beta lyase, cytoplasmic	44					kynurenine metabolic process|L-phenylalanine catabolic process|tryptophan catabolic process	cytosol|nucleus	1-aminocyclopropane-1-carboxylate synthase activity|cysteine-S-conjugate beta-lyase activity|glutamine-phenylpyruvate transaminase activity|kynurenine-oxoglutarate transaminase activity|L-glutamine:pyruvate aminotransferase activity|L-phenylalanine:pyruvate aminotransferase activity|protein homodimerization activity|pyridoxal phosphate binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1)	18					L-Glutamine(DB00130)|Pyridoxal Phosphate(DB00114)	CCACGGCAAAGTCTGGTGGTG	0.532													13	20					0	0	1	0	0	A	131605002	G	A	131605002	2	1	81	1	0	0	0	0	0	0	0	1	2750	1020	36	2		2	CCBL1	9	131605002	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	7225	131605002	9608429	7548	11164											
LRRC8A	56262	broad.mit.edu	37	9	131671556	131671556	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:131671556G>A	ENST00000259324.5	+	3	2636	c.2113G>A	c.(2113-2115)Ggc>Agc	p.G705S	LRRC8A_ENST00000372600.4_Missense_Mutation_p.G705S|LRRC8A_ENST00000372599.3_Missense_Mutation_p.G705S	NM_001127244.1	NP_001120716.1	Q8IWT6	LRC8A_HUMAN	leucine rich repeat containing 8 family, member A	705					pre-B cell differentiation	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(3)	28						TGCCGACATCGGCCTCCTGCA	0.642													24	25					0	0	1	0	0	A	131671556	G	A	131671556	3	1	81	1	0	0	0	0	1	0	0	0	9066	1116	39	1	2115	1	LRRC8A	9	131671556	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	66554	131671556	9541875	7549	11165											
PHYHD1	254295	broad.mit.edu	37	9	131703819	131703819	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:131703819G>A	ENST00000372592.3	+	12	1732	c.799G>A	c.(799-801)Gcc>Acc	p.A267T	PHYHD1_ENST00000308941.5_Silent_p.R259R|PHYHD1_ENST00000487504.1_3'UTR|RP11-101E3.5_ENST00000482796.1_Silent_p.R21R|PHYHD1_ENST00000353176.5_Missense_Mutation_p.A246T|PHYHD1_ENST00000421063.2_Missense_Mutation_p.A246T	NM_001100876.1	NP_001094346.1			phytanoyl-CoA dioxygenase domain containing 1											central_nervous_system(1)|endometrium(2)|large_intestine(3)|skin(1)|stomach(3)	10						CCTCATGGAGGCCTCTGGCAC	0.627													7	89					0	0	1	0	0	A	131703819	G	A	131703819	3	1	81	1	0	0	0	0	1	0	0	0	11913	1203	42	2	837	2	PHYHD1	9	131703819	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	32263	131703819	9509612	7550	11166											
PHYHD1	254295	broad.mit.edu	37	9	131704018	131704018	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:131704018G>A	ENST00000308941.5	+	12	1300	c.880G>A	c.(880-882)Gcc>Acc	p.A294T	PHYHD1_ENST00000372592.3_3'UTR|RP11-101E3.5_ENST00000482796.1_Intron|PHYHD1_ENST00000353176.5_3'UTR|PHYHD1_ENST00000421063.2_3'UTR	NM_174933.3	NP_777593.2			phytanoyl-CoA dioxygenase domain containing 1											central_nervous_system(1)|endometrium(2)|large_intestine(3)|skin(1)|stomach(3)	10						AGGAGCCCTCGCCCCTCCCGG	0.597													7	16					0	0	1	0	0	A	131704018	G	A	131704018	3	1	81	1	0	0	0	0	1	0	0	0	11913	1087	38	1	944	1	PHYHD1	9	131704018	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	199	131704018	9509413	7551	11167											
DOLK	22845	broad.mit.edu	37	9	131708454	131708454	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:131708454G>A	ENST00000372586.3	-	1	1444	c.1129C>T	c.(1129-1131)Cgc>Tgc	p.R377C	RP11-101E3.5_ENST00000482796.1_Intron	NM_014908.3	NP_055723.1	Q9UPQ8	DOLK_HUMAN	dolichol kinase	377					dolichyl diphosphate biosynthetic process|dolichyl monophosphate biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to endoplasmic reticulum membrane|membrane fraction	dolichol kinase activity			breast(1)|large_intestine(5)|lung(3)|ovary(1)|urinary_tract(1)	11						CGGAAGTAGCGCACATACTCC	0.522													37	62					0	0	1	0	0	A	131708454	G	A	131708454	3	1	81	1	0	0	0	0	1	0	0	0	4730	1087	38	1	491	1	DOLK	9	131708454	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	4436	131708454	9504977	7552	11168											
NUP188	23511	broad.mit.edu	37	9	131744902	131744902	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:131744902C>T	ENST00000372577.2	+	16	1612	c.1591C>T	c.(1591-1593)Cgc>Tgc	p.R531C		NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	531					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						ATACCTGGTACGCTGGGAATA	0.463													28	41					0	0	1	0	0	T	131744902	C	T	131744902	3	4	81	1	0	0	0	0	1	0	0	0	10806	536	19	1	1653	1	NUP188	9	131744902	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	36448	131744902	9468529	7553	11169											
NUP188	23511	broad.mit.edu	37	9	131760483	131760483	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:131760483C>T	ENST00000372577.2	+	31	3426	c.3405C>T	c.(3403-3405)gaC>gaT	p.D1135D		NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	1135					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						TCTTTCTTGACGTGCTTGATG	0.443													80	144					0	0	1	0	0	T	131760483	C	T	131760483	2	4	81	1	0	0	0	0	0	0	0	1	10806	535	19	1		1	NUP188	9	131760483	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	15581	131760483	9452948	7554	11170											
FAM73B	84895	broad.mit.edu	37	9	131823542	131823542	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:131823542G>A	ENST00000358369.4	+	9	1153	c.927G>A	c.(925-927)ccG>ccA	p.P309P	FAM73B_ENST00000406926.2_Silent_p.P309P|FAM73B_ENST00000277475.5_3'UTR	NM_032809.2	NP_116198.2	Q7L4E1	FA73B_HUMAN	family with sequence similarity 73, member B	309						integral to membrane				breast(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(1)	13						GAGATTACCCGATCCCACTCT	0.642											OREG0003927	type=REGULATORY REGION|Gene=FAM73B|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	4	5					0	0	1	0	0	A	131823542	G	A	131823542	2	1	81	1	0	0	0	0	0	0	0	1	5652	1045	37	1		1	FAM73B	9	131823542	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	63059	131823542	9389889	7555	11171											
PPP2R4	5524	broad.mit.edu	37	9	131898769	131898769	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:131898769A>G	ENST00000337738.1	+	8	952	c.685A>G	c.(685-687)Aaa>Gaa	p.K229E	PPP2R4_ENST00000355007.3_Missense_Mutation_p.K152E|PPP2R4_ENST00000357197.4_Missense_Mutation_p.K165E|PPP2R4_ENST00000348141.5_Missense_Mutation_p.K200E|PPP2R4_ENST00000393370.2_Missense_Mutation_p.K194E|PPP2R4_ENST00000358994.4_Missense_Mutation_p.K194E|PPP2R4_ENST00000347048.4_Intron|PPP2R4_ENST00000452489.2_Missense_Mutation_p.K229E	NM_178001.2	NP_821068.1	Q15257	PTPA_HUMAN	protein phosphatase 2A activator, regulatory subunit 4	229					ATP catabolic process|negative regulation of phosphoprotein phosphatase activity|negative regulation of protein dephosphorylation|positive regulation of apoptosis|positive regulation of phosphoprotein phosphatase activity|positive regulation of protein dephosphorylation	calcium channel complex|cytoplasm|nucleus|protein phosphatase type 2A complex|soluble fraction	ATP binding|peptidyl-prolyl cis-trans isomerase activity|protein heterodimerization activity|protein homodimerization activity|protein phosphatase 2A binding|protein phosphatase type 2A regulator activity|protein tyrosine phosphatase activator activity|receptor binding			breast(3)|endometrium(1)|kidney(1)|lung(3)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	12		Medulloblastoma(224;0.235)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)		GGTTATGCGGAAACTCCAGAA	0.542													96	168					0	0	1	0	0	G	131898769	A	G	131898769	3	3	81	1	0	0	0	0	1	0	0	0	12440	247	9	3	715	3	PPP2R4	9	131898769	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	75227	131898769	9314662	7556	11172											
C9orf50	375759	broad.mit.edu	37	9	132374652	132374652	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:132374652C>T	ENST00000372478.4	-	7	1471	c.1270G>A	c.(1270-1272)Gca>Aca	p.A424T	NTMT1_ENST00000372486.1_Intron	NM_199350.3	NP_955382.3	Q5SZB4	CI050_HUMAN	chromosome 9 open reading frame 50	424										central_nervous_system(1)|endometrium(4)|large_intestine(2)|ovary(1)|skin(1)|urinary_tract(1)	10		Ovarian(14;0.00556)				TGCAGTGTTGCGGAGGCCAGG	0.602													10	24					0	0	1	0	0	T	132374652	C	T	132374652	3	4	81	1	0	0	0	0	1	0	0	0	2505	768	27	1	29	1	C9orf50	9	132374652	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	475883	132374652	8838779	7557	11173											
ASB6	140459	broad.mit.edu	37	9	132404200	132404200	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:132404200T>C	ENST00000277458.4	-	1	244	c.79A>G	c.(79-81)Atc>Gtc	p.I27V	ASB6_ENST00000450050.2_Silent_p.G8G|ASB6_ENST00000277459.4_Missense_Mutation_p.I27V	NM_017873.3	NP_060343.1	Q9NWX5	ASB6_HUMAN	ankyrin repeat and SOCS box containing 6	27					intracellular signal transduction	cytoplasm				NS(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)	15		Ovarian(14;0.00556)				GGGTCCTGGATCCCCAGGGAG	0.687													11	16					0	0	1	0	0	C	132404200	T	C	132404200	3	2	81	1	0	0	0	0	1	0	0	0	1026	1435	50	3	1210	3	ASB6	9	132404200	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	29548	132404200	8809231	7558	11174											
TOR1B	27348	broad.mit.edu	37	9	132569618	132569618	+	Missense_Mutation	SNP	G	G	A	rs142420082		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:132569618G>A	ENST00000259339.2	+	3	677	c.617G>A	c.(616-618)cGc>cAc	p.R206H		NM_014506.1	NP_055321.1	O14657	TOR1B_HUMAN	torsin family 1, member B (torsin B)	206					chaperone mediated protein folding requiring cofactor|response to unfolded protein	endoplasmic reticulum lumen	ATP binding|nucleoside-triphosphatase activity|unfolded protein binding			endometrium(3)|kidney(1)|large_intestine(1)|lung(7)	12		Ovarian(14;0.0586)				GTGTCTTACCGCAAAGCCATC	0.478													43	68					0	0	1	0	0	A	132569618	G	A	132569618	3	1	81	1	0	0	0	0	1	0	0	0	16435	1087	38	1	627	1	TOR1B	9	132569618	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	165418	132569618	8643813	7559	11175											
TOR1B	27348	broad.mit.edu	37	9	132571244	132571244	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:132571244G>A	ENST00000259339.2	+	4	762	c.702G>A	c.(700-702)aaG>aaA	p.K234K		NM_014506.1	NP_055321.1	O14657	TOR1B_HUMAN	torsin family 1, member B (torsin B)	234					chaperone mediated protein folding requiring cofactor|response to unfolded protein	endoplasmic reticulum lumen	ATP binding|nucleoside-triphosphatase activity|unfolded protein binding			endometrium(3)|kidney(1)|large_intestine(1)|lung(7)	12		Ovarian(14;0.0586)				CCGGAAGAAAGAGGGAAGACA	0.458													30	43					0	0	1	0	0	A	132571244	G	A	132571244	2	1	81	1	0	0	0	0	0	0	0	1	16435	933	33	2		2	TOR1B	9	132571244	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1626	132571244	8642187	7560	11176											
TOR1A	1861	broad.mit.edu	37	9	132584875	132584875	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:132584875G>A	ENST00000351698.4	-	2	477	c.429C>T	c.(427-429)aaC>aaT	p.N143N	TOR1A_ENST00000473084.1_5'UTR	NM_000113.2	NP_000104.1	O14656	TOR1A_HUMAN	torsin family 1, member A (torsin A)	143					chaperone mediated protein folding requiring cofactor|response to unfolded protein	endoplasmic reticulum lumen|nuclear membrane	ATP binding|serine-type endopeptidase activity|unfolded protein binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	20		Ovarian(14;0.00556)				ACAAGGTGATGTTTGAAGCAT	0.468													7	47					0	0	1	0	0	A	132584875	G	A	132584875	2	1	81	1	0	0	0	0	0	0	0	1	16432	1368	48	2		2	TOR1A	9	132584875	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	13631	132584875	8628556	7561	11177											
USP20	10868	broad.mit.edu	37	9	132630508	132630508	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:132630508G>A	ENST00000315480.4	+	11	1073	c.915G>A	c.(913-915)tcG>tcA	p.S305S	USP20_ENST00000358355.1_Silent_p.S305S|USP20_ENST00000372429.3_Silent_p.S305S			Q9Y2K6	UBP20_HUMAN	ubiquitin specific peptidase 20	305					endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|ubiquitin thiolesterase activity|zinc ion binding			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|urinary_tract(1)	11		Ovarian(14;0.00556)				GGGGCAGCTCGCAGGCCGAGA	0.657													15	27					0	0	1	0	0	A	132630508	G	A	132630508	2	1	81	1	0	0	0	0	0	0	0	1	17112	1074	38	1		1	USP20	9	132630508	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	45633	132630508	8582923	7562	11178											
USP20	10868	broad.mit.edu	37	9	132632081	132632081	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:132632081C>G	ENST00000315480.4	+	14	1681	c.1523C>G	c.(1522-1524)gCc>gGc	p.A508G	USP20_ENST00000358355.1_Missense_Mutation_p.A508G|USP20_ENST00000372429.3_Missense_Mutation_p.A508G			Q9Y2K6	UBP20_HUMAN	ubiquitin specific peptidase 20	508					endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|ubiquitin thiolesterase activity|zinc ion binding			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|urinary_tract(1)	11		Ovarian(14;0.00556)				GACAGCTATGCCGCCCAGGGC	0.617													29	52					0	0	1	0	0	G	132632081	C	G	132632081	3	3	81	1	0	0	0	0	1	0	0	0	17112	739	26	5	1569	5	USP20	9	132632081	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1573	132632081	8581350	7563	11179											
USP20	10868	broad.mit.edu	37	9	132636916	132636916	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:132636916G>T	ENST00000315480.4	+	18	1960	c.1802G>T	c.(1801-1803)aGc>aTc	p.S601I	USP20_ENST00000358355.1_Missense_Mutation_p.S601I|USP20_ENST00000372429.3_Missense_Mutation_p.S601I			Q9Y2K6	UBP20_HUMAN	ubiquitin specific peptidase 20	601					endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|ubiquitin thiolesterase activity|zinc ion binding			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|urinary_tract(1)	11		Ovarian(14;0.00556)				AAGATCAACAGCCACGTCTCC	0.577													10	32					0.00136819	0.00145431	1	1	0	T	132636916	G	T	132636916	3	4	81	1	0	0	0	0	1	0	0	0	17112	971	34	4	1864	4	USP20	9	132636916	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	4835	132636916	8576515	7564	11180											
FNBP1	23048	broad.mit.edu	37	9	132662789	132662789	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:132662789C>T	ENST00000420781.1	-	14	1657	c.1439G>A	c.(1438-1440)cGc>cAc	p.R480H	FNBP1_ENST00000355681.3_Missense_Mutation_p.R460H|FNBP1_ENST00000443566.2_Missense_Mutation_p.R117H|FNBP1_ENST00000478129.1_5'UTR|FNBP1_ENST00000446176.2_Missense_Mutation_p.R489H			Q96RU3	FNBP1_HUMAN	formin binding protein 1	489	Interaction with RND2 (By similarity).|Required for self-association and induction of membrane tubulation.				endocytosis	cell cortex|cytoplasmic membrane-bounded vesicle|cytoskeleton|lysosome|plasma membrane	identical protein binding|lipid binding						Ovarian(14;0.000536)		GBM - Glioblastoma multiforme(294;0.0378)		CTGCTCGCTGCGTGCTGGGAG	0.617			T	MLL	AML								9	7					0	0	1	0	0	T	132662789	C	T	132662789	3	4	81	1	0	0	0	0	1	0	0	0	5998	768	27	1	403	1	FNBP1	9	132662789	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	25873	132662789	8550642	7565	11181											
FNBP1	23048	broad.mit.edu	37	9	132719709	132719709	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:132719709G>A	ENST00000420781.1	-	6	661	c.443C>T	c.(442-444)gCg>gTg	p.A148V	FNBP1_ENST00000355681.3_Missense_Mutation_p.A148V|FNBP1_ENST00000446176.2_Missense_Mutation_p.A148V			Q96RU3	FNBP1_HUMAN	formin binding protein 1	148	Interaction with microtubules (By similarity).|Self-association, lipid-binding and induction of membrane tubulation.				endocytosis	cell cortex|cytoplasmic membrane-bounded vesicle|cytoskeleton|lysosome|plasma membrane	identical protein binding|lipid binding						Ovarian(14;0.000536)		GBM - Glioblastoma multiforme(294;0.0378)		CGCCCTGTCCGCCTCTTTGCA	0.428			T	MLL	AML								17	17					0	0	1	0	0	A	132719709	G	A	132719709	3	1	81	1	0	0	0	0	1	0	0	0	5998	1087	38	1	1458	1	FNBP1	9	132719709	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	56920	132719709	8493722	7566	11182											
FNBP1	23048	broad.mit.edu	37	9	132740835	132740835	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:132740835C>T	ENST00000420781.1	-	4	472	c.254G>A	c.(253-255)gGg>gAg	p.G85E	FNBP1_ENST00000355681.3_Missense_Mutation_p.G85E|FNBP1_ENST00000446176.2_Missense_Mutation_p.G85E			Q96RU3	FNBP1_HUMAN	formin binding protein 1	85	Interaction with microtubules (By similarity).|Self-association, lipid-binding and induction of membrane tubulation.				endocytosis	cell cortex|cytoplasmic membrane-bounded vesicle|cytoskeleton|lysosome|plasma membrane	identical protein binding|lipid binding						Ovarian(14;0.000536)		GBM - Glioblastoma multiforme(294;0.0378)		TTCATGCTGCCCTGCGTAATC	0.443			T	MLL	AML								21	29					0	0	1	0	0	T	132740835	C	T	132740835	3	4	81	1	0	0	0	0	1	0	0	0	5998	623	22	2	1655	2	FNBP1	9	132740835	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	21126	132740835	8472596	7567	11183											
NCS1	23413	broad.mit.edu	37	9	132980151	132980151	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:132980151G>A	ENST00000372398.3	+	3	216	c.130G>A	c.(130-132)Gat>Aat	p.D44N	NCS1_ENST00000458469.1_Missense_Mutation_p.D26N|NCS1_ENST00000493042.1_3'UTR	NM_014286.3	NP_055101.2	P62166	NCS1_HUMAN	neuronal calcium sensor 1	44	EF-hand 1.				negative regulation of calcium ion transport via voltage-gated calcium channel activity|regulation of neuron projection development	cell junction|Golgi cisterna membrane|perinuclear region of cytoplasm|postsynaptic density|postsynaptic membrane	calcium ion binding|protein binding			large_intestine(1)|lung(4)|stomach(1)	6						TGGGCAGCTGGATGCGGCAGG	0.537													41	48					0	0	1	0	0	A	132980151	G	A	132980151	3	1	81	1	0	0	0	0	1	0	0	0	10287	1174	41	2	154	2	NCS1	9	132980151	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	239316	132980151	8233280	7568	11184											
FUBP3	8939	broad.mit.edu	37	9	133491792	133491792	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:133491792C>A	ENST00000319725.9	+	7	530	c.455C>A	c.(454-456)cCt>cAt	p.P152H		NM_003934.1	NP_003925.1	Q96I24	FUBP3_HUMAN	far upstream element (FUSE) binding protein 3	152					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|RNA binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(10)|ovary(2)|urinary_tract(2)	21				OV - Ovarian serous cystadenocarcinoma(145;0.000279)		CGAAATGGACCTGGCTTTCAT	0.498													18	37					1.99824e-07	2.33645e-07	1	1	0	A	133491792	C	A	133491792	3	1	81	1	0	0	0	0	1	0	0	0	6128	681	24	4	481	4	FUBP3	9	133491792	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	511641	133491792	7721639	7569	11185											
ABL1	25	broad.mit.edu	37	9	133750263	133750263	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:133750263C>A	ENST00000318560.5	+	7	1475	c.1094C>A	c.(1093-1095)gCt>gAt	p.A365D		NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN	c-abl oncogene 1, non-receptor tyrosine kinase	365	Protein kinase.				actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle	cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm	ATP binding|DNA binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding	p.A365V(1)|p.?(1)		breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619)	AGAGATCTTGCTGCCCGAAAC	0.517			"T, Mis"	"BCR, ETV6, NUP214"	"CML, ALL, T-ALL"								6	81					2.0095e-06	2.30238e-06	1	1	0	A	133750263	C	A	133750263	3	1	81	1	0	0	0	0	1	0	0	0	92	797	28	4	1260	4	ABL1	9	133750263	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	258471	133750263	7463168	7570	11186											
ABL1	25	broad.mit.edu	37	9	133753948	133753948	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:133753948C>T	ENST00000318560.5	+	8	1798	c.1417C>T	c.(1417-1419)Cga>Tga	p.R473*		NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN	c-abl oncogene 1, non-receptor tyrosine kinase	473	Protein kinase.				actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle	cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm	ATP binding|DNA binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding			breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619)	TGAACTCATGCGAGCATGTAA	0.502			"T, Mis"	"BCR, ETV6, NUP214"	"CML, ALL, T-ALL"								60	76					0	0	1	0	0	T	133753948	C	T	133753948	4	4	81	1	0	0	0	0	0	1	0	0	92	760	27	1	1587	1	ABL1	9	133753948	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3685	133753948	7459483	7571	11187											
ABL1	25	broad.mit.edu	37	9	133760330	133760330	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:133760330C>T	ENST00000318560.5	+	11	3034	c.2653C>T	c.(2653-2655)Cca>Tca	p.P885S		NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN	c-abl oncogene 1, non-receptor tyrosine kinase	885	DNA-binding (By similarity).|Pro-rich.				actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle	cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm	ATP binding|DNA binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding			breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619)	CTCTGAGTCGCCAGGGAGGGA	0.672			"T, Mis"	"BCR, ETV6, NUP214"	"CML, ALL, T-ALL"								4	12					0	0	1	0	0	T	133760330	C	T	133760330	3	4	81	1	0	0	0	0	1	0	0	0	92	739	26	2	2835	2	ABL1	9	133760330	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	6382	133760330	7453101	7572	11188											
ABL1	25	broad.mit.edu	37	9	133761036	133761036	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:133761036C>T	ENST00000318560.5	+	11	3740	c.3359C>T	c.(3358-3360)tCg>tTg	p.S1120L		NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN	c-abl oncogene 1, non-receptor tyrosine kinase	1120	F-actin-binding.				actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle	cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm	ATP binding|DNA binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding			breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619)	CTCCTCAGTTCGGTGAAGGAA	0.587			"T, Mis"	"BCR, ETV6, NUP214"	"CML, ALL, T-ALL"								12	12					0	0	1	0	0	T	133761036	C	T	133761036	3	4	81	1	0	0	0	0	1	0	0	0	92	893	31	1	3541	1	ABL1	9	133761036	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	706	133761036	7452395	7573	11189											
FIBCD1	84929	broad.mit.edu	37	9	133799639	133799639	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:133799639G>A	ENST00000372338.4	-	3	939	c.697C>T	c.(697-699)Cgg>Tgg	p.R233W	FIBCD1_ENST00000372337.2_Missense_Mutation_p.R75W|FIBCD1_ENST00000253018.4_Missense_Mutation_p.R75W|FIBCD1_ENST00000448616.1_Missense_Mutation_p.R233W	NM_032843.4	NP_116232.3	Q8N539	FBCD1_HUMAN	fibrinogen C domain containing 1	233					signal transduction	extracellular space|integral to membrane	chitin binding|metal ion binding|receptor binding			kidney(1)|large_intestine(3)|lung(2)|prostate(5)|urinary_tract(1)	12	all_hematologic(7;0.0028)			OV - Ovarian serous cystadenocarcinoma(145;3.52e-05)|Epithelial(140;0.00019)		GCACAGCCCCGGGGCCGGGTT	0.731													3	4					0	0	1	0	0	A	133799639	G	A	133799639	3	1	81	1	0	0	0	0	1	0	0	0	5917	1115	39	1	708	1	FIBCD1	9	133799639	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	38603	133799639	7413792	7574	11190											
NUP214	8021	broad.mit.edu	37	9	134021675	134021675	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:134021675C>A	ENST00000359428.5	+	13	2073	c.1929C>A	c.(1927-1929)gtC>gtA	p.V643V	RP11-544A12.4_ENST00000587408.1_RNA|RP11-544A12.4_ENST00000586290.1_RNA|RP11-544A12.4_ENST00000587264.1_RNA|RP11-544A12.4_ENST00000589540.1_RNA|RP11-544A12.4_ENST00000590461.1_RNA|NUP214_ENST00000411637.2_Silent_p.V632V|RP11-544A12.4_ENST00000415391.2_RNA|NUP214_ENST00000451030.1_Silent_p.V643V|RP11-544A12.4_ENST00000589667.1_RNA|RP11-544A12.4_ENST00000588378.1_RNA			P35658	NU214_HUMAN	nucleoporin 214kDa	643	11 X 5 AA approximate repeats.				carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding			NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		AGTCCTCAGTCTTGCCCTCAC	0.502			T	"DEK, SET, ABL1"	"AML, T-ALL"								15	247					1.15088e-07	1.34837e-07	1	1	0	A	134021675	C	A	134021675	2	1	81	1	0	0	0	0	0	0	0	1	10810	900	32	4		4	NUP214	9	134021675	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	222036	134021675	7191756	7575	11191											
NUP214	8021	broad.mit.edu	37	9	134049645	134049645	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:134049645G>T	ENST00000359428.5	+	22	3241	c.3097G>T	c.(3097-3099)Gca>Tca	p.A1033S	NUP214_ENST00000411637.2_Missense_Mutation_p.A1023S|NUP214_ENST00000451030.1_Missense_Mutation_p.A1034S			P35658	NU214_HUMAN	nucleoporin 214kDa	1033	11 X 5 AA approximate repeats.				carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding			NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		GCCCCATGCAGCACCTTTTGC	0.532			T	"DEK, SET, ABL1"	"AML, T-ALL"								8	74					0.0381472	0.0389402	1	1	0	T	134049645	G	T	134049645	3	4	81	1	0	0	0	0	1	0	0	0	10810	971	34	4	3183	4	NUP214	9	134049645	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	27970	134049645	7163786	7576	11192											
NUP214	8021	broad.mit.edu	37	9	134074037	134074037	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:134074037G>A	ENST00000359428.5	+	29	5300	c.5156G>A	c.(5155-5157)gGg>gAg	p.G1719E	NUP214_ENST00000411637.2_Missense_Mutation_p.G1709E|NUP214_ENST00000451030.1_Missense_Mutation_p.G1720E|NUP214_ENST00000483497.2_Missense_Mutation_p.G545E			P35658	NU214_HUMAN	nucleoporin 214kDa	1719	11 X 3 AA approximate repeats.|11 X 5 AA approximate repeats.|18 X 4 AA approximate repeats.|Pro/Ser/Thr-rich.				carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding			NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		ACAGCCCCAGGGGTCTTTGGA	0.587			T	"DEK, SET, ABL1"	"AML, T-ALL"								14	38					0	0	1	0	0	A	134074037	G	A	134074037	3	1	81	1	0	0	0	0	1	0	0	0	10810	1232	43	2	5270	2	NUP214	9	134074037	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	24392	134074037	7139394	7577	11193											
POMT1	10585	broad.mit.edu	37	9	134385314	134385314	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:134385314G>A	ENST00000423007.1	+	8	1072	c.630G>A	c.(628-630)acG>acA	p.T210T	POMT1_ENST00000402686.3_Silent_p.T210T|POMT1_ENST00000354713.4_Silent_p.T180T|POMT1_ENST00000419118.2_Silent_p.T58T|POMT1_ENST00000541219.1_Intron|POMT1_ENST00000341012.7_Silent_p.T156T|POMT1_ENST00000372228.3_Silent_p.T210T|POMT1_ENST00000404875.2_Silent_p.T93T	NM_001136113.1	NP_001129585.1	Q9Y6A1	POMT1_HUMAN	protein-O-mannosyltransferase 1	210					multicellular organismal development|protein O-linked glycosylation	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-mannose-protein mannosyltransferase activity|metal ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	31		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.65e-05)|Epithelial(140;0.000259)		GTGTGTTCACGTACGTGCTCG	0.512													49	96					0	0	1	0	0	A	134385314	G	A	134385314	2	1	81	1	0	0	0	0	0	0	0	1	12293	1132	40	1		1	POMT1	9	134385314	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	311277	134385314	6828117	7578	11194											
POMT1	10585	broad.mit.edu	37	9	134398374	134398374	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:134398374G>A	ENST00000423007.1	+	20	2501	c.2059G>A	c.(2059-2061)Gcg>Acg	p.A687T	POMT1_ENST00000402686.3_Missense_Mutation_p.A687T|POMT1_ENST00000485278.1_3'UTR|POMT1_ENST00000354713.4_Missense_Mutation_p.A657T|POMT1_ENST00000419118.2_Missense_Mutation_p.A535T|POMT1_ENST00000541219.1_Missense_Mutation_p.A427T|POMT1_ENST00000341012.7_Missense_Mutation_p.A633T|POMT1_ENST00000372228.3_Missense_Mutation_p.A709T|POMT1_ENST00000404875.2_Missense_Mutation_p.A570T	NM_001136113.1	NP_001129585.1	Q9Y6A1	POMT1_HUMAN	protein-O-mannosyltransferase 1	709					multicellular organismal development|protein O-linked glycosylation	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-mannose-protein mannosyltransferase activity|metal ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	31		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.65e-05)|Epithelial(140;0.000259)		GTACTCCTCCGCGTGCCACGT	0.637													9	5					0	0	1	0	0	A	134398374	G	A	134398374	3	1	81	1	0	0	0	0	1	0	0	0	12293	1087	38	1	2199	1	POMT1	9	134398374	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	13060	134398374	6815057	7579	11195											
UCK1	83549	broad.mit.edu	37	9	134404364	134404364	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:134404364G>A	ENST00000372215.4	-	5	663	c.570C>T	c.(568-570)ttC>ttT	p.F190F	UCK1_ENST00000372208.3_Intron|UCK1_ENST00000372210.3_Silent_p.F181F|UCK1_ENST00000459858.1_5'UTR|UCK1_ENST00000372211.3_Silent_p.F195F	NM_001261450.1|NM_001261451.1|NM_031432.2	NP_001248379.1|NP_001248380.1|NP_113620.1	Q9HA47	UCK1_HUMAN	uridine-cytidine kinase 1	190					pyrimidine base metabolic process|pyrimidine nucleoside salvage	cytosol	ATP binding|phosphotransferase activity, alcohol group as acceptor|uridine kinase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|skin(1)|upper_aerodigestive_tract(1)	6				OV - Ovarian serous cystadenocarcinoma(145;2.34e-05)|Epithelial(140;0.000219)		CCGGCTTCACGAAGGTGGTGT	0.612													8	13					0	0	1	0	0	A	134404364	G	A	134404364	2	1	81	1	0	0	0	0	0	0	0	1	16983	1049	37	1		1	UCK1	9	134404364	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	5990	134404364	6809067	7580	11196											
UCK1	83549	broad.mit.edu	37	9	134404542	134404542	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:134404542C>T	ENST00000372215.4	-	4	574	c.481G>A	c.(481-483)Gac>Aac	p.D161N	UCK1_ENST00000372208.3_Missense_Mutation_p.D161N|UCK1_ENST00000372210.3_Missense_Mutation_p.D152N|UCK1_ENST00000459858.1_5'UTR|UCK1_ENST00000372211.3_Missense_Mutation_p.D166N	NM_001261450.1|NM_001261451.1|NM_031432.2	NP_001248379.1|NP_001248380.1|NP_113620.1	Q9HA47	UCK1_HUMAN	uridine-cytidine kinase 1	161					pyrimidine base metabolic process|pyrimidine nucleoside salvage	cytosol	ATP binding|phosphotransferase activity, alcohol group as acceptor|uridine kinase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|skin(1)|upper_aerodigestive_tract(1)	6				OV - Ovarian serous cystadenocarcinoma(145;2.34e-05)|Epithelial(140;0.000219)		ACGTCGGAGTCGGTGTCCACG	0.647													15	14					0	0	1	0	0	T	134404542	C	T	134404542	3	4	81	1	0	0	0	0	1	0	0	0	16983	884	31	1	368	1	UCK1	9	134404542	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	178	134404542	6808889	7581	11197											
RAPGEF1	2889	broad.mit.edu	37	9	134497224	134497224	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:134497224G>T	ENST00000372195.1	-	11	2107	c.1864C>A	c.(1864-1866)Ctg>Atg	p.L622M	RAPGEF1_ENST00000372189.3_Missense_Mutation_p.L605M|RAPGEF1_ENST00000372190.3_Missense_Mutation_p.L623M			Q13905	RPGF1_HUMAN	Rap guanine nucleotide exchange factor (GEF) 1	605					activation of MAPKK activity|nerve growth factor receptor signaling pathway|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|endosome	guanyl-nucleotide exchange factor activity|SH3 domain binding			NS(2)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	39		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364)		GGCGGGGCCAGCTCCTGCACG	0.602													6	11					2.0095e-06	2.30238e-06	1	1	0	T	134497224	G	T	134497224	3	4	81	1	0	0	0	0	1	0	0	0	13095	962	34	4	1476	4	RAPGEF1	9	134497224	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	92682	134497224	6716207	7582	11198											
RAPGEF1	2889	broad.mit.edu	37	9	134504591	134504591	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:134504591G>A	ENST00000372195.1	-	7	1034	c.791C>T	c.(790-792)aCg>aTg	p.T264M	RAPGEF1_ENST00000372189.3_Missense_Mutation_p.T247M|RAPGEF1_ENST00000481260.1_5'UTR|RAPGEF1_ENST00000372190.3_Missense_Mutation_p.T265M			Q13905	RPGF1_HUMAN	Rap guanine nucleotide exchange factor (GEF) 1	247					activation of MAPKK activity|nerve growth factor receptor signaling pathway|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|endosome	guanyl-nucleotide exchange factor activity|SH3 domain binding			NS(2)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	39		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364)		CATCCCAGTCGTCTTGTTTAG	0.572													5	78					0	0	1	0	0	A	134504591	G	A	134504591	3	1	81	1	0	0	0	0	1	0	0	0	13095	1145	40	1	2565	1	RAPGEF1	9	134504591	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	7367	134504591	6708840	7583	11199											
NTNG2	84628	broad.mit.edu	37	9	135073845	135073845	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:135073845C>T	ENST00000393229.3	+	3	1482	c.706C>T	c.(706-708)Cgg>Tgg	p.R236W	NTNG2_ENST00000393228.4_Missense_Mutation_p.R236W|NTNG2_ENST00000372179.3_Missense_Mutation_p.R236W|NTNG2_ENST00000360670.3_Missense_Mutation_p.R236W	NM_032536.2	NP_115925.2	Q96CW9	NTNG2_HUMAN	netrin G2	236	Laminin N-terminal.				axonogenesis	anchored to plasma membrane				central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	29				OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)		CCTCTACACGCGGCTGGAGAG	0.672													23	51					0	0	1	0	0	T	135073845	C	T	135073845	3	4	81	1	0	0	0	0	1	0	0	0	10753	759	27	1	712	1	NTNG2	9	135073845	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	569254	135073845	6139586	7584	11200											
SETX	23064	broad.mit.edu	37	9	135163640	135163640	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:135163640C>A	ENST00000372169.2	-	17	6489	c.6307G>T	c.(6307-6309)Ggt>Tgt	p.G2103C	SETX_ENST00000224140.5_Missense_Mutation_p.G2103C|SETX_ENST00000393220.1_Missense_Mutation_p.G2103C			Q7Z333	SETX_HUMAN	senataxin	2103					cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		TCCCGTCCACCTCGGCATAGA	0.403													4	25					0.00909568	0.00944708	1	1	0	A	135163640	C	A	135163640	3	1	81	1	0	0	0	0	1	0	0	0	14195	681	24	4	1766	4	SETX	9	135163640	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	89795	135163640	6049791	7585	11201											
SETX	23064	broad.mit.edu	37	9	135204624	135204624	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:135204624G>T	ENST00000372169.2	-	10	2543	c.2361C>A	c.(2359-2361)atC>atA	p.I787I	SETX_ENST00000224140.5_Silent_p.I787I|SETX_ENST00000393220.1_Silent_p.I787I			Q7Z333	SETX_HUMAN	senataxin	787					cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		ACTTTGCACAGATTTCATCTT	0.328													7	74					2.0095e-06	2.30238e-06	1	1	0	T	135204624	G	T	135204624	2	4	81	1	0	0	0	0	0	0	0	1	14195	932	33	4		4	SETX	9	135204624	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	40984	135204624	6008807	7586	11202											
TTF1	7270	broad.mit.edu	37	9	135277278	135277278	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:135277278G>A	ENST00000334270.2	-	2	970	c.931C>T	c.(931-933)Cgg>Tgg	p.R311W		NM_001205296.1|NM_007344.3	NP_001192225.1|NP_031370.2	Q15361	TTF1_HUMAN	transcription termination factor, RNA polymerase I	311					negative regulation of DNA replication|regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription	nucleolus|nucleoplasm	DNA binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)		ACAGCAGGCCGGGATTCCTGC	0.453													62	92					0	0	1	0	0	A	135277278	G	A	135277278	3	1	81	1	0	0	0	0	1	0	0	0	16780	1115	39	1	1826	1	TTF1	9	135277278	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	72654	135277278	5936153	7587	11203											
TSC1	7248	broad.mit.edu	37	9	135776205	135776205	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:135776205A>G	ENST00000298552.3	-	20	2743	c.2522T>C	c.(2521-2523)gTc>gCc	p.V841A	TSC1_ENST00000440111.2_Missense_Mutation_p.V841A|TSC1_ENST00000545250.1_Missense_Mutation_p.V790A	NM_000368.4|NM_001162426.1|NM_001162427.1	NP_000359.1|NP_001155898.1|NP_001155899.1	Q92574	TSC1_HUMAN	tuberous sclerosis 1	841					activation of Rho GTPase activity|cell cycle arrest|cell-matrix adhesion|insulin receptor signaling pathway|negative regulation of cell proliferation|negative regulation of protein ubiquitination|negative regulation of TOR signaling cascade|negative regulation of translation|positive regulation of focal adhesion assembly|regulation of phosphoprotein phosphatase activity|regulation of stress fiber assembly|rRNA export from nucleus	cell cortex|lamellipodium|membrane|TSC1-TSC2 complex	chaperone binding|protein N-terminus binding	p.?(1)		NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	65				OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)		CTGCTGCTGGACCGACTCACT	0.448			"D, Mis, N, F, S"			"hamartoma, renal cell"			Tuberous Sclerosis				31	41					0	0	1	0	0	G	135776205	A	G	135776205	3	3	81	1	0	0	0	0	1	0	0	0	16666	275	10	3	988	3	TSC1	9	135776205	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	498927	135776205	5437226	7588	11204											
GTF3C5	9328	broad.mit.edu	37	9	135926232	135926232	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:135926232G>A	ENST00000372097.5	+	4	958	c.635G>A	c.(634-636)cGc>cAc	p.R212H	GTF3C5_ENST00000372099.6_Missense_Mutation_p.R203H|GTF3C5_ENST00000372108.5_Missense_Mutation_p.R212H|GTF3C5_ENST00000342018.8_Missense_Mutation_p.R212H|GTF3C5_ENST00000372095.5_Missense_Mutation_p.R87H	NM_012087.3	NP_036219.2	Q9Y5Q8	TF3C5_HUMAN	general transcription factor IIIC, polypeptide 5, 63kDa	212						transcription factor TFIIIC complex	DNA binding|protein binding	p.R212H(1)		endometrium(5)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)	21				OV - Ovarian serous cystadenocarcinoma(145;4.01e-06)|Epithelial(140;4e-05)		AGAGCCCGGCGCCCCCACAAT	0.587													20	41					0	0	1	0	0	A	135926232	G	A	135926232	3	1	81	1	0	0	0	0	1	0	0	0	6917	1087	38	1	649	1	GTF3C5	9	135926232	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	150027	135926232	5287199	7589	11205											
GTF3C5	9328	broad.mit.edu	37	9	135926284	135926284	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:135926284G>T	ENST00000372097.5	+	4	1010	c.687G>T	c.(685-687)caG>caT	p.Q229H	GTF3C5_ENST00000372099.6_Missense_Mutation_p.Q220H|GTF3C5_ENST00000372108.5_Missense_Mutation_p.Q229H|GTF3C5_ENST00000342018.8_Splice_Site|GTF3C5_ENST00000372095.5_Missense_Mutation_p.Q104H	NM_012087.3	NP_036219.2	Q9Y5Q8	TF3C5_HUMAN	general transcription factor IIIC, polypeptide 5, 63kDa	229						transcription factor TFIIIC complex	DNA binding|protein binding			endometrium(5)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)	21				OV - Ovarian serous cystadenocarcinoma(145;4.01e-06)|Epithelial(140;4e-05)		TGCCCAAGCAGCCACTGGAGG	0.617													13	16					1.5739e-10	1.93127e-10	1	1	0	T	135926284	G	T	135926284	3	4	81	1	0	0	0	0	1	0	0	0	6917	962	34	4	701	4	GTF3C5	9	135926284	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	52	135926284	5287147	7590	11206											
GTF3C5	9328	broad.mit.edu	37	9	135929296	135929296	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:135929296C>T	ENST00000372097.5	+	6	1278	c.955C>T	c.(955-957)Ctc>Ttc	p.L319F	GTF3C5_ENST00000372099.6_Missense_Mutation_p.L310F|GTF3C5_ENST00000372108.5_Missense_Mutation_p.L319F|GTF3C5_ENST00000342018.8_Missense_Mutation_p.L250F|GTF3C5_ENST00000372095.5_Missense_Mutation_p.L194F	NM_012087.3	NP_036219.2	Q9Y5Q8	TF3C5_HUMAN	general transcription factor IIIC, polypeptide 5, 63kDa	319						transcription factor TFIIIC complex	DNA binding|protein binding			endometrium(5)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)	21				OV - Ovarian serous cystadenocarcinoma(145;4.01e-06)|Epithelial(140;4e-05)		TTATCAAGTCCTCGATTTCCG	0.458													16	23					0	0	1	0	0	T	135929296	C	T	135929296	3	4	81	1	0	0	0	0	1	0	0	0	6917	681	24	2	977	2	GTF3C5	9	135929296	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3012	135929296	5284135	7591	11207											
GTF3C5	9328	broad.mit.edu	37	9	135929816	135929816	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:135929816C>T	ENST00000372097.5	+	7	1333	c.1010C>T	c.(1009-1011)cCg>cTg	p.P337L	GTF3C5_ENST00000372099.6_Missense_Mutation_p.P328L|GTF3C5_ENST00000372108.5_Missense_Mutation_p.P337L|GTF3C5_ENST00000342018.8_Missense_Mutation_p.P268L|GTF3C5_ENST00000372095.5_Missense_Mutation_p.P212L	NM_012087.3	NP_036219.2	Q9Y5Q8	TF3C5_HUMAN	general transcription factor IIIC, polypeptide 5, 63kDa	337						transcription factor TFIIIC complex	DNA binding|protein binding			endometrium(5)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)	21				OV - Ovarian serous cystadenocarcinoma(145;4.01e-06)|Epithelial(140;4e-05)		AGTGACTTGCCGGTCAAAGCA	0.597													7	11					0	0	1	0	0	T	135929816	C	T	135929816	3	4	81	1	0	0	0	0	1	0	0	0	6917	652	23	1	1036	1	GTF3C5	9	135929816	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	520	135929816	5283615	7592	11208											
CEL	1056	broad.mit.edu	37	9	135945982	135945982	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:135945982G>A	ENST00000372080.4	+	10	1446	c.1430G>A	c.(1429-1431)cGg>cAg	p.R477Q	CEL_ENST00000351304.7_Intron	NM_001807.3	NP_001798.2	P19835	CEL_HUMAN	carboxyl ester lipase	474					cholesterol catabolic process|fatty acid catabolic process|intestinal cholesterol absorption|intestinal lipid catabolic process|pancreatic juice secretion|protein esterification	cytosol|extracellular space	acylglycerol lipase activity|carboxylesterase activity|heparin binding|sterol esterase activity|triglyceride lipase activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|pancreas(2)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196)		ACGGGCTACCGGCCCCAAGAC	0.607													8	101					0	0	1	0	0	A	135945982	G	A	135945982	3	1	81	1	0	0	0	0	1	0	0	0	3231	1116	39	1	1468	1	CEL	9	135945982	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	16166	135945982	5267449	7593	11209											
RALGDS	5900	broad.mit.edu	37	9	135974142	135974142	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:135974142C>T	ENST00000393160.3	-	18	2765	c.2412G>A	c.(2410-2412)aaG>aaA	p.K804K	RALGDS_ENST00000469972.1_5'UTR|RALGDS_ENST00000372047.3_Silent_p.K847K|RALGDS_ENST00000372050.3_Silent_p.K859K|RALGDS_ENST00000393157.3_Silent_p.K858K|RALGDS_ENST00000542690.1_Silent_p.K930K|RALGDS_ENST00000372062.3_Silent_p.K830K	NM_001042368.1	NP_001035827.1	Q12967	GNDS_HUMAN	ral guanine nucleotide dissociation stimulator	859	Ras-associating.				nerve growth factor receptor signaling pathway|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol	Ral guanyl-nucleotide exchange factor activity			endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10				OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05)		TTTCAGGGATCTTCAGCTCTG	0.562			T	CIITA	"PMBL, Hodgkin Lymphona, "								12	36					0	0	1	0	0	T	135974142	C	T	135974142	2	4	81	1	0	0	0	0	0	0	0	1	13068	912	32	2		2	RALGDS	9	135974142	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	28160	135974142	5239289	7594	11210											
RALGDS	5900	broad.mit.edu	37	9	135983469	135983469	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:135983469G>T	ENST00000393160.3	-	6	1291	c.938C>A	c.(937-939)cCt>cAt	p.P313H	RALGDS_ENST00000469972.1_5'UTR|RALGDS_ENST00000372047.3_Missense_Mutation_p.P356H|RALGDS_ENST00000372050.3_Missense_Mutation_p.P368H|RALGDS_ENST00000393157.3_Missense_Mutation_p.P367H|RALGDS_ENST00000542690.1_Missense_Mutation_p.P439H|RALGDS_ENST00000372062.3_Missense_Mutation_p.P339H	NM_001042368.1	NP_001035827.1	Q12967	GNDS_HUMAN	ral guanine nucleotide dissociation stimulator	368					nerve growth factor receptor signaling pathway|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol	Ral guanyl-nucleotide exchange factor activity			endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10				OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05)		TGCAACCACAGGTGAAGGCCA	0.562			T	CIITA	"PMBL, Hodgkin Lymphona, "								25	38					3.6726e-16	4.70534e-16	1	1	0	T	135983469	G	T	135983469	3	4	81	1	0	0	0	0	1	0	0	0	13068	1000	35	4	1693	4	RALGDS	9	135983469	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	9327	135983469	5229962	7595	11211											
SURF2	6835	broad.mit.edu	37	9	136227955	136227955	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:136227955G>T	ENST00000371964.4	+	6	752	c.711G>T	c.(709-711)aaG>aaT	p.K237N		NM_017503.3	NP_059973.4	Q15527	SURF2_HUMAN	surfeit 2	237							protein binding			breast(1)|large_intestine(1)|lung(4)	6				OV - Ovarian serous cystadenocarcinoma(145;4.87e-07)|Epithelial(140;4.02e-06)|all cancers(34;3.71e-05)		CGTTGAAAAAGAAGTTCAAGA	0.478													73	112					8.70598e-44	1.1701e-43	1	1	0	T	136227955	G	T	136227955	3	4	81	1	0	0	0	0	1	0	0	0	15460	933	33	4	733	4	SURF2	9	136227955	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	244486	136227955	4985476	7596	11212											
REXO4	57109	broad.mit.edu	37	9	136282769	136282769	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:136282769A>C	ENST00000371942.3	-	1	395	c.196T>G	c.(196-198)Ttt>Gtt	p.F66V	REXO4_ENST00000371935.2_Missense_Mutation_p.F66V|REXO4_ENST00000478037.1_5'UTR|ADAMTS13_ENST00000485925.1_Intron	NM_020385.2	NP_065118.2	Q9GZR2	REXO4_HUMAN	REX4, RNA exonuclease 4 homolog (S. cerevisiae)	66						nucleolus	exonuclease activity|nucleic acid binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(4)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	15				OV - Ovarian serous cystadenocarcinoma(145;8.58e-08)|Epithelial(140;9.55e-07)|all cancers(34;1.05e-05)		TTTTGAGAAAAGTCTTCTGGT	0.587													14	111					0	0	1	0	0	C	136282769	A	C	136282769	3	2	81	1	0	0	0	0	1	0	0	0	13295	72	3	5	1104	5	REXO4	9	136282769	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	54814	136282769	4930662	7597	11213											
ADAMTS13	11093	broad.mit.edu	37	9	136324099	136324099	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:136324099C>T	ENST00000371929.3	+	29	4525	c.4081C>T	c.(4081-4083)Cgg>Tgg	p.R1361W	ADAMTS13_ENST00000371916.1_3'UTR|ADAMTS13_ENST00000356589.2_Missense_Mutation_p.R1274W|ADAMTS13_ENST00000355699.2_Missense_Mutation_p.R1305W|ADAMTS13_ENST00000371910.1_Missense_Mutation_p.R157W|ADAMTS13_ENST00000485925.1_3'UTR	NM_139025.3|NM_139027.3	NP_620594.1|NP_620596.2	Q76LX8	ATS13_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 13	1361	CUB 2.				cell-matrix adhesion|glycoprotein metabolic process|integrin-mediated signaling pathway|peptide catabolic process|platelet activation|protein processing|proteolysis	cell surface|proteinaceous extracellular matrix	calcium ion binding|integrin binding|metalloendopeptidase activity|zinc ion binding			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(4)	36				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		CTCTCAGATCCGGGACACCCA	0.572													9	14					0	0	1	0	0	T	136324099	C	T	136324099	3	4	81	1	0	0	0	0	1	0	0	0	257	643	23	1	4195	1	ADAMTS13	9	136324099	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	41330	136324099	4889332	7598	11214											
ADAMTSL2	9719	broad.mit.edu	37	9	136401795	136401795	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:136401795C>T	ENST00000393061.3	+	2	720	c.288C>T	c.(286-288)atC>atT	p.I96I	ADAMTSL2_ENST00000393060.1_5'UTR|ADAMTSL2_ENST00000354484.4_5'UTR			Q86TH1	ATL2_HUMAN	ADAMTS-like 2	503	TSP type-1 1.				negative regulation of transforming growth factor beta receptor signaling pathway	proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding			kidney(2)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(145;9.31e-08)|Epithelial(140;6.62e-07)|all cancers(34;7.74e-06)		GGAAGAGGATCGGAGCTGGCC	0.592													22	42					0	0	1	0	0	T	136401795	C	T	136401795	2	4	81	1	0	0	0	0	0	0	0	1	274	899	31	1		1	ADAMTSL2	9	136401795	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	77696	136401795	4811636	7599	11215											
ADAMTSL2	9719	broad.mit.edu	37	9	136406006	136406006	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:136406006G>A	ENST00000393061.3	+	7	1324	c.892G>A	c.(892-894)Ggc>Agc	p.G298S	ADAMTSL2_ENST00000393060.1_Missense_Mutation_p.G189S|ADAMTSL2_ENST00000354484.4_Missense_Mutation_p.G189S			Q86TH1	ATL2_HUMAN	ADAMTS-like 2	189					negative regulation of transforming growth factor beta receptor signaling pathway	proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding			kidney(2)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(145;9.31e-08)|Epithelial(140;6.62e-07)|all cancers(34;7.74e-06)		GCAGCCCATCGGCTGTGACGG	0.682													11	15					0	0	1	0	0	A	136406006	G	A	136406006	3	1	81	1	0	0	0	0	1	0	0	0	274	1116	39	1	587	1	ADAMTSL2	9	136406006	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	4211	136406006	4807425	7600	11216											
ADAMTSL2	9719	broad.mit.edu	37	9	136412159	136412159	+	Splice_Site	SNP	G	G	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:136412159G>C	ENST00000393061.3	+	9	1522		c.e9-1		ADAMTSL2_ENST00000393060.1_Splice_Site|ADAMTSL2_ENST00000354484.4_Splice_Site			Q86TH1	ATL2_HUMAN	ADAMTS-like 2						negative regulation of transforming growth factor beta receptor signaling pathway	proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding			kidney(2)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(145;9.31e-08)|Epithelial(140;6.62e-07)|all cancers(34;7.74e-06)		TGCCCTTCCAGCTCTTGCAGA	0.587													63	126					0	0	1	0	0	C	136412159	G	C	136412159	5	2	81	1	0	0	0	0	0	0	1	0	274	985	34	4	793	4	ADAMTSL2	9	136412159	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	6153	136412159	4801272	7601	11217											
DBH	1621	broad.mit.edu	37	9	136505010	136505010	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:136505010C>T	ENST00000393056.2	+	2	394	c.382C>T	c.(382-384)Cag>Tag	p.Q128*		NM_000787.3	NP_000778.3	P09172	DOPO_HUMAN	dopamine beta-hydroxylase (dopamine beta-monooxygenase)	128	DOMON.				hormone biosynthetic process	chromaffin granule lumen|chromaffin granule membrane|extracellular region|integral to membrane|membrane fraction|soluble fraction|transport vesicle membrane	dopamine beta-monooxygenase activity|L-ascorbic acid binding			central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	36				OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	Dopamine(DB00988)|Vitamin C(DB00126)	CCTGGATCCCCAGCAGGACTA	0.612													8	14					0	0	1	0	0	T	136505010	C	T	136505010	4	4	81	1	0	0	0	0	0	1	0	0	4274	595	21	2	388	2	DBH	9	136505010	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	92851	136505010	4708421	7602	11218											
SARDH	1757	broad.mit.edu	37	9	136531992	136531992	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:136531992G>A	ENST00000371872.4	-	20	2753	c.2496C>T	c.(2494-2496)gaC>gaT	p.D832D	SARDH_ENST00000371868.1_Silent_p.S282S|SARDH_ENST00000439388.1_Splice_Site_p.D832D|SARDH_ENST00000469828.1_5'UTR|SARDH_ENST00000422262.2_Splice_Site_p.D664D	NM_007101.3	NP_009032.2	Q9UL12	SARDH_HUMAN	sarcosine dehydrogenase	832					glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|sarcosine dehydrogenase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		TGGGTACTTTGCTGGAAGAAG	0.617													4	4					0	0	1	0	0	A	136531992	G	A	136531992	5	1	81	1	0	0	0	0	0	0	1	0	13894	1333	46	2	268	2	SARDH	9	136531992	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	26982	136531992	4681439	7603	11219											
SARDH	1757	broad.mit.edu	37	9	136568090	136568090	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:136568090C>T	ENST00000371872.4	-	13	1873	c.1616G>A	c.(1615-1617)cGc>cAc	p.R539H	SARDH_ENST00000371868.1_5'UTR|SARDH_ENST00000439388.1_Missense_Mutation_p.R539H|SARDH_ENST00000422262.2_Missense_Mutation_p.R371H	NM_007101.3	NP_009032.2	Q9UL12	SARDH_HUMAN	sarcosine dehydrogenase	539					glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|sarcosine dehydrogenase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		CAGCAGCCTGCGGTAGGCGTA	0.652													7	21					0	0	1	0	0	T	136568090	C	T	136568090	3	4	81	1	0	0	0	0	1	0	0	0	13894	768	27	1	1176	1	SARDH	9	136568090	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	36098	136568090	4645341	7604	11220											
VAV2	7410	broad.mit.edu	37	9	136661642	136661642	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:136661642C>T	ENST00000371851.1	-	10	1251	c.926G>A	c.(925-927)tGc>tAc	p.C309Y	VAV2_ENST00000371850.3_Missense_Mutation_p.C314Y|VAV2_ENST00000406606.3_Missense_Mutation_p.C309Y			P52735	VAV2_HUMAN	vav 2 guanine nucleotide exchange factor	314	DH.				angiogenesis|apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	metal ion binding|Rho guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1)	35				OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06)		CTTCAGTGTGCACTCCTGGGA	0.607													8	11					0	0	1	0	0	T	136661642	C	T	136661642	3	4	81	1	0	0	0	0	1	0	0	0	17192	710	25	2	1775	2	VAV2	9	136661642	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	93552	136661642	4551789	7605	11221											
BRD3	8019	broad.mit.edu	37	9	136901379	136901379	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:136901379G>A	ENST00000303407.7	-	10	1896	c.1711C>T	c.(1711-1713)Ccc>Tcc	p.P571S	BRD3_ENST00000371834.2_3'UTR|BRD3_ENST00000473349.1_5'UTR	NM_007371.3	NP_031397.1	Q15059	BRD3_HUMAN	bromodomain containing 3	571						nucleus	protein binding		BRD3/C15orf55(3)	kidney(1)|skin(1)|stomach(4)	6				OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07)		TAGCTCATGGGCAGGCCCTCC	0.607			T	C15orf55	lethal midline carcinoma of young people								6	46					0	0	1	0	0	A	136901379	G	A	136901379	3	1	81	1	0	0	0	0	1	0	0	0	1505	1203	42	2	481	2	BRD3	9	136901379	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	239737	136901379	4312052	7606	11222											
BRD3	8019	broad.mit.edu	37	9	136901413	136901413	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:136901413G>T	ENST00000303407.7	-	10	1862	c.1677C>A	c.(1675-1677)gcC>gcA	p.A559A	BRD3_ENST00000371834.2_3'UTR|BRD3_ENST00000473349.1_5'UTR	NM_007371.3	NP_031397.1	Q15059	BRD3_HUMAN	bromodomain containing 3	559						nucleus	protein binding		BRD3/C15orf55(3)	kidney(1)|skin(1)|stomach(4)	6				OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07)		AGTCGTAGGAGGCAGATGCCT	0.612			T	C15orf55	lethal midline carcinoma of young people								4	41					0.000602214	0.000646338	1	1	0	T	136901413	G	T	136901413	2	4	81	1	0	0	0	0	0	0	0	1	1505	987	35	4		4	BRD3	9	136901413	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	34	136901413	4312018	7607	11223											
BRD3	8019	broad.mit.edu	37	9	136906967	136906967	+	Missense_Mutation	SNP	C	C	T	rs56017928	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:136906967C>T	ENST00000303407.7	-	8	1507	c.1322G>A	c.(1321-1323)cGt>cAt	p.R441H	BRD3_ENST00000371834.2_Missense_Mutation_p.R441H|BRD3_ENST00000357885.2_Missense_Mutation_p.R441H	NM_007371.3	NP_031397.1	Q15059	BRD3_HUMAN	bromodomain containing 3	441			R -> H (in dbSNP:rs56017928).			nucleus	protein binding		BRD3/C15orf55(3)	kidney(1)|skin(1)|stomach(4)	6				OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07)		CTCACTGCTACGGCTGCTCTC	0.672			T	C15orf55	lethal midline carcinoma of young people								5	18					0	0	1	0	0	T	136906967	C	T	136906967	3	4	81	1	0	0	0	0	1	0	0	0	1505	536	19	1	878	1	BRD3	9	136906967	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	5554	136906967	4306464	7608	11224											
COL5A1	1289	broad.mit.edu	37	9	137591761	137591761	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:137591761C>T	ENST00000371817.3	+	3	698	c.284C>T	c.(283-285)gCa>gTa	p.A95V	COL5A1_ENST00000464187.1_3'UTR	NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	95	Laminin G-like.|TSP N-terminal.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CCAGCGTCTGCATTTCCCGAG	0.577													24	31					0	0	1	0	0	T	137591761	C	T	137591761	3	4	81	1	0	0	0	0	1	0	0	0	3719	710	25	2	294	2	COL5A1	9	137591761	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	684794	137591761	3621670	7609	11225											
COL5A1	1289	broad.mit.edu	37	9	137593154	137593154	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:137593154G>A	ENST00000371817.3	+	4	1043	c.629G>A	c.(628-630)cGg>cAg	p.R210Q	COL5A1_ENST00000464187.1_3'UTR	NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	210	Laminin G-like.|TSP N-terminal.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		TTTGGCACCCGGATCCTGGAT	0.567													6	13					0	0	1	0	0	A	137593154	G	A	137593154	3	1	81	1	0	0	0	0	1	0	0	0	3719	1116	39	1	643	1	COL5A1	9	137593154	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1393	137593154	3620277	7610	11226											
OLFM1	10439	broad.mit.edu	37	9	138011443	138011443	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:138011443C>T	ENST00000252854.4	+	6	1010	c.823C>T	c.(823-825)Cgt>Tgt	p.R275C	OLFM1_ENST00000371796.3_Missense_Mutation_p.R266C|OLFM1_ENST00000371793.3_Missense_Mutation_p.R293C	NM_014279.4	NP_055094.1	Q99784	NOE1_HUMAN	olfactomedin 1	293	Olfactomedin-like.				nervous system development	endoplasmic reticulum lumen	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)	21		Myeloproliferative disorder(178;0.0333)		Epithelial(140;5.49e-08)|OV - Ovarian serous cystadenocarcinoma(145;9.68e-08)|all cancers(34;1.88e-07)		CACCTCCCACCGTCTCCCCCA	0.527													22	37					0	0	1	0	0	T	138011443	C	T	138011443	3	4	81	1	0	0	0	0	1	0	0	0	10900	652	23	1	855	1	OLFM1	9	138011443	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	418289	138011443	3201988	7611	11227											
MRPS2	51116	broad.mit.edu	37	9	138395863	138395863	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:138395863C>G	ENST00000371785.1	+	5	984	c.775C>G	c.(775-777)Cgg>Ggg	p.R259G	MRPS2_ENST00000241600.5_Missense_Mutation_p.R259G|RP11-426A6.5_ENST00000415062.1_RNA			Q9Y399	RT02_HUMAN	mitochondrial ribosomal protein S2	259					translation	mitochondrion|small ribosomal subunit	structural constituent of ribosome			large_intestine(2)|lung(1)|prostate(2)|urinary_tract(1)	6				OV - Ovarian serous cystadenocarcinoma(145;1.46e-53)|Epithelial(140;2.04e-47)|all cancers(34;1.23e-42)		GGCCATCACCCGGGCCAAGGA	0.652													3	40					0	0	1	0	0	G	138395863	C	G	138395863	3	3	81	1	0	0	0	0	1	0	0	0	9880	643	23	5	789	5	MRPS2	9	138395863	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	384420	138395863	2817568	7612	11228											
MRPS2	51116	broad.mit.edu	37	9	138395910	138395910	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:138395910G>T	ENST00000371785.1	+	5	1031	c.822G>T	c.(820-822)caG>caT	p.Q274H	MRPS2_ENST00000241600.5_Missense_Mutation_p.Q274H|RP11-426A6.5_ENST00000415062.1_RNA			Q9Y399	RT02_HUMAN	mitochondrial ribosomal protein S2	274					translation	mitochondrion|small ribosomal subunit	structural constituent of ribosome			large_intestine(2)|lung(1)|prostate(2)|urinary_tract(1)	6				OV - Ovarian serous cystadenocarcinoma(145;1.46e-53)|Epithelial(140;2.04e-47)|all cancers(34;1.23e-42)		ATCGCCTGCAGGGCCAGAAGG	0.637													12	11					4.93089e-13	6.20298e-13	1	1	0	T	138395910	G	T	138395910	3	4	81	1	0	0	0	0	1	0	0	0	9880	991	35	4	836	4	MRPS2	9	138395910	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	47	138395910	2817521	7613	11229											
KCNT1	57582	broad.mit.edu	37	9	138662884	138662884	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:138662884C>T	ENST00000298480.5	+	18	2025	c.1951C>T	c.(1951-1953)Cag>Tag	p.Q651*	KCNT1_ENST00000371757.2_Nonsense_Mutation_p.Q651*|KCNT1_ENST00000490355.2_Nonsense_Mutation_p.Q632*|KCNT1_ENST00000491806.2_Nonsense_Mutation_p.Q618*|KCNT1_ENST00000487664.1_Nonsense_Mutation_p.Q606*|KCNT1_ENST00000488444.2_Nonsense_Mutation_p.Q632*|KCNT1_ENST00000263604.3_Nonsense_Mutation_p.Q632*|KCNT1_ENST00000486577.2_Nonsense_Mutation_p.Q612*			B7ZVY4	B7ZVY4_HUMAN	potassium channel, subfamily T, member 1	651						membrane	binding|calcium-activated potassium channel activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		CTTCTCGGGGCAGGGGCTGCA	0.647													11	7					0	0	1	0	0	T	138662884	C	T	138662884	4	4	81	1	0	0	0	0	0	1	0	0	8135	711	25	2	2021	2	KCNT1	9	138662884	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	266974	138662884	2550547	7614	11230											
KCNT1	57582	broad.mit.edu	37	9	138671301	138671301	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:138671301T>C	ENST00000298480.5	+	24	2900	c.2826T>C	c.(2824-2826)ctT>ctC	p.L942L	KCNT1_ENST00000371757.2_Silent_p.L942L|KCNT1_ENST00000490355.2_Silent_p.L921L|KCNT1_ENST00000491806.2_Silent_p.L909L|KCNT1_ENST00000487664.1_Silent_p.L897L|KCNT1_ENST00000488444.2_Silent_p.L923L|KCNT1_ENST00000263604.3_Silent_p.L923L|KCNT1_ENST00000486577.2_Silent_p.L901L			B7ZVY4	B7ZVY4_HUMAN	potassium channel, subfamily T, member 1	942						membrane	binding|calcium-activated potassium channel activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		CTCTGGCTCTTTCCAAACTAG	0.607													23	49					0	0	1	0	0	C	138671301	T	C	138671301	2	2	81	1	0	0	0	0	0	0	0	1	8135	1828	64	3		3	KCNT1	9	138671301	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	8417	138671301	2542130	7615	11231											
CAMSAP1	157922	broad.mit.edu	37	9	138707005	138707005	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:138707005C>T	ENST00000389532.4	-	16	4508	c.4444G>A	c.(4444-4446)Gcc>Acc	p.A1482T	CAMSAP1_ENST00000409386.3_Missense_Mutation_p.A1493T|CAMSAP1_ENST00000312405.6_Missense_Mutation_p.A1204T|CAMSAP1_ENST00000483991.1_5'UTR	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein 1	1482	CKK.					cytoplasm|microtubule				breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		TGGGATATGGCATTGTGAATA	0.413													7	16					0	0	1	0	0	T	138707005	C	T	138707005	3	4	81	1	0	0	0	0	1	0	0	0	2629	710	25	2	372	2	CAMSAP1	9	138707005	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	35704	138707005	2506426	7616	11232											
CAMSAP1	157922	broad.mit.edu	37	9	138713121	138713121	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:138713121G>A	ENST00000389532.4	-	11	3450	c.3386C>T	c.(3385-3387)aCg>aTg	p.T1129M	CAMSAP1_ENST00000409386.3_Missense_Mutation_p.T1140M|CAMSAP1_ENST00000312405.6_Missense_Mutation_p.T851M|CAMSAP1_ENST00000483991.1_5'UTR	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein 1	1129						cytoplasm|microtubule				breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		GTGCGGGAGCGTCTCTACACT	0.662													34	49					0	0	1	0	0	A	138713121	G	A	138713121	3	1	81	1	0	0	0	0	1	0	0	0	2629	1145	40	1	1450	1	CAMSAP1	9	138713121	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	6116	138713121	2500310	7617	11233											
CARD9	64170	broad.mit.edu	37	9	139264250	139264250	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:139264250G>A	ENST00000371732.5	-	7	1194	c.1029C>T	c.(1027-1029)atC>atT	p.I343I	CARD9_ENST00000315908.7_Silent_p.I343I|CARD9_ENST00000371734.3_Silent_p.I343I	NM_052813.4	NP_434700.2	Q9H257	CARD9_HUMAN	caspase recruitment domain family, member 9	343					positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JNK cascade|positive regulation of stress-activated MAPK cascade|regulation of apoptosis	cytoplasm	CARD domain binding|protein homodimerization activity			endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)|prostate(3)|skin(1)	15		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;4.58e-06)|Epithelial(140;5.65e-06)		GGATGGCCTCGATGCGGTCCT	0.637													4	13					0	0	1	0	0	A	139264250	G	A	139264250	2	1	81	1	0	0	0	0	0	0	0	1	2670	1048	37	1		1	CARD9	9	139264250	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	551129	139264250	1949181	7618	11234											
CARD9	64170	broad.mit.edu	37	9	139265507	139265507	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:139265507C>T	ENST00000371732.5	-	4	578	c.413G>A	c.(412-414)aGc>aAc	p.S138N	CARD9_ENST00000315908.7_Missense_Mutation_p.S138N|CARD9_ENST00000371734.3_Missense_Mutation_p.S138N	NM_052813.4	NP_434700.2	Q9H257	CARD9_HUMAN	caspase recruitment domain family, member 9	138					positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JNK cascade|positive regulation of stress-activated MAPK cascade|regulation of apoptosis	cytoplasm	CARD domain binding|protein homodimerization activity			endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)|prostate(3)|skin(1)	15		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;4.58e-06)|Epithelial(140;5.65e-06)		ATCTTTGGAGCTCAGCAGCGC	0.622													5	15					0	0	1	0	0	T	139265507	C	T	139265507	3	4	81	1	0	0	0	0	1	0	0	0	2670	797	28	2	1290	2	CARD9	9	139265507	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1257	139265507	1947924	7619	11235											
SNAPC4	6621	broad.mit.edu	37	9	139278098	139278098	+	Missense_Mutation	SNP	C	C	T	rs145651274		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:139278098C>T	ENST00000298532.2	-	15	1891	c.1523G>A	c.(1522-1524)cGg>cAg	p.R508Q		NM_003086.2	NP_003077.2	Q5SXM2	SNPC4_HUMAN	small nuclear RNA activating complex, polypeptide 4, 190kDa	508					snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter	snRNA-activating protein complex	DNA binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	33		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)		CCTCCGCCGCCGCCTCCGGAG	0.657													15	14					0	0	1	0	0	T	139278098	C	T	139278098	3	4	81	1	0	0	0	0	1	0	0	0	14891	652	23	1	2918	1	SNAPC4	9	139278098	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	12591	139278098	1935333	7620	11236											
SNAPC4	6621	broad.mit.edu	37	9	139290161	139290161	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:139290161G>T	ENST00000298532.2	-	3	607	c.239C>A	c.(238-240)cCt>cAt	p.P80H		NM_003086.2	NP_003077.2	Q5SXM2	SNPC4_HUMAN	small nuclear RNA activating complex, polypeptide 4, 190kDa	80					snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter	snRNA-activating protein complex	DNA binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	33		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)		TGGGTCTTCAGGGAGGGTTTT	0.567													11	200					0.00136819	0.00145431	1	1	0	T	139290161	G	T	139290161	3	4	81	1	0	0	0	0	1	0	0	0	14891	1000	35	4	4250	4	SNAPC4	9	139290161	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	12063	139290161	1923270	7621	11237											
SEC16A	9919	broad.mit.edu	37	9	139341773	139341773	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:139341773C>T	ENST00000313050.7	-	25	6676	c.6603G>A	c.(6601-6603)ggG>ggA	p.G2201G	SEC16A_ENST00000371706.3_Silent_p.G2023G|SEC16A_ENST00000290037.6_Silent_p.G2023G|SEC16A_ENST00000313084.5_Silent_p.G207G|SEC16A_ENST00000431893.2_Silent_p.G2023G|SEC16A_ENST00000398335.1_3'UTR	NM_014866.1	NP_055681.1	O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	2023					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		TCCGCTGGGTCCCGCTTGGGT	0.612													9	7					0	0	1	0	0	T	139341773	C	T	139341773	2	4	81	1	0	0	0	0	0	0	0	1	14040	842	30	2		2	SEC16A	9	139341773	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	51612	139341773	1871658	7622	11238											
SEC16A	9919	broad.mit.edu	37	9	139371902	139371902	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:139371902C>T	ENST00000313050.7	-	1	239	c.166G>A	c.(166-168)Gct>Act	p.A56T		NM_014866.1	NP_055681.1	O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	2023					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		CTACTAAAAGCAAATGGATCC	0.562													16	24					0	0	1	0	0	T	139371902	C	T	139371902	3	4	81	1	0	0	0	0	1	0	0	0	14040	710	25	2	7027	2	SEC16A	9	139371902	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	30129	139371902	1841529	7623	11239											
NOTCH1	4851	broad.mit.edu	37	9	139391863	139391863	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:139391863C>T	ENST00000277541.6	-	34	6403	c.6328G>A	c.(6328-6330)Gtg>Atg	p.V2110M		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	2110					aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		AGCAGCCTCACGATGTCGTGA	0.677			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			8	40					0	0	1	0	0	T	139391863	C	T	139391863	3	4	81	1	0	0	0	0	1	0	0	0	10594	536	19	1	1343	1	NOTCH1	9	139391863	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	19961	139391863	1821568	7624	11240											
NOTCH1	4851	broad.mit.edu	37	9	139393414	139393414	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:139393414G>A	ENST00000277541.6	-	33	6192	c.6117C>T	c.(6115-6117)aaC>aaT	p.N2039N		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	2039					aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CATCCACATTGTTCACGGCGG	0.617			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			11	107					0	0	1	0	0	A	139393414	G	A	139393414	2	1	81	1	0	0	0	0	0	0	0	1	10594	1368	48	2		2	NOTCH1	9	139393414	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1551	139393414	1820017	7625	11241											
NOTCH1	4851	broad.mit.edu	37	9	139393669	139393669	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:139393669G>A	ENST00000277541.6	-	32	6052	c.5977C>T	c.(5977-5979)Cat>Tat	p.H1993Y		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1993					aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GTGCCATCATGCATGCGGGCA	0.642			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			17	35					0	0	1	0	0	A	139393669	G	A	139393669	3	1	81	1	0	0	0	0	1	0	0	0	10594	1319	46	2	1702	2	NOTCH1	9	139393669	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	255	139393669	1819762	7626	11242											
NOTCH1	4851	broad.mit.edu	37	9	139395022	139395022	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:139395022G>A	ENST00000277541.6	-	31	5991	c.5916C>T	c.(5914-5916)gaC>gaT	p.D1972D		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1972					aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CACCTTGTGCGTCGGCAGACA	0.677			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			36	59					0	0	1	0	0	A	139395022	G	A	139395022	2	1	81	1	0	0	0	0	0	0	0	1	10594	1136	40	1		1	NOTCH1	9	139395022	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1353	139395022	1818409	7627	11243											
NOTCH1	4851	broad.mit.edu	37	9	139396309	139396309	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:139396309C>T	ENST00000277541.6	-	30	5604	c.5529G>A	c.(5527-5529)tgG>tgA	p.W1843*		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1843					aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	p.W1844*(1)|p.W1843*(1)		breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GCTGCTGAGTCCACTGCCGGT	0.647			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			7	18					0	0	1	0	0	T	139396309	C	T	139396309	4	4	81	1	0	0	0	0	0	1	0	0	10594	856	30	2	2158	2	NOTCH1	9	139396309	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1287	139396309	1817122	7628	11244											
NOTCH1	4851	broad.mit.edu	37	9	139397687	139397687	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:139397687G>A	ENST00000277541.6	-	27	5189	c.5114C>T	c.(5113-5115)gCg>gTg	p.A1705V		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1705					aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CGAGGCGAGCGCTCCCAGGAA	0.647			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			7	26					0	0	1	0	0	A	139397687	G	A	139397687	3	1	81	1	0	0	0	0	1	0	0	0	10594	1087	38	1	2585	1	NOTCH1	9	139397687	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1378	139397687	1815744	7629	11245											
NOTCH1	4851	broad.mit.edu	37	9	139397730	139397730	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:139397730G>A	ENST00000277541.6	-	27	5146	c.5071C>T	c.(5071-5073)Cag>Tag	p.Q1691*		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1691					aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		TGGAAGCACTGCGAGGAGGCC	0.637			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			12	24					0	0	1	0	0	A	139397730	G	A	139397730	4	1	81	1	0	0	0	0	0	1	0	0	10594	1328	46	2	2628	2	NOTCH1	9	139397730	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	43	139397730	1815701	7630	11246											
NOTCH1	4851	broad.mit.edu	37	9	139413915	139413915	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:139413915C>T	ENST00000277541.6	-	5	920	c.845G>A	c.(844-846)cGc>cAc	p.R282H		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	282	EGF-like 7; calcium-binding (Potential).			R -> P (in Ref. 1; AAG33848 and 3; AAA60614).	aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		TGGCGGGCAGCGGCAGTTGTA	0.607			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			25	44					0	0	1	0	0	T	139413915	C	T	139413915	3	4	81	1	0	0	0	0	1	0	0	0	10594	768	27	1	6942	1	NOTCH1	9	139413915	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	16185	139413915	1799516	7631	11247											
FAM69B	138311	broad.mit.edu	37	9	139617871	139617871	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:139617871C>T	ENST00000371691.1	+	3	1779	c.680C>T	c.(679-681)gCc>gTc	p.A227V	SNHG7_ENST00000414282.1_RNA|FAM69B_ENST00000371692.4_Missense_Mutation_p.A314V			Q5VUD6	FA69B_HUMAN	family with sequence similarity 69, member B	314						endoplasmic reticulum membrane|integral to membrane				NS(1)|endometrium(3)|large_intestine(2)|lung(1)|prostate(1)	8	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;1.03e-05)|Epithelial(140;0.00013)		TTCAAGATGGCCGACCTGCAG	0.647													10	9					0	0	1	0	0	T	139617871	C	T	139617871	3	4	81	1	0	0	0	0	1	0	0	0	5638	739	26	2	959	2	FAM69B	9	139617871	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	203956	139617871	1595560	7632	11248											
LCN8	138307	broad.mit.edu	37	9	139651520	139651520	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:139651520C>T	ENST00000371688.3	-	2	420	c.125G>A	c.(124-126)aGt>aAt	p.S42N	LCN8_ENST00000482893.1_5'UTR	NM_178469.3	NP_848564.2	Q6JVE9	LCN8_HUMAN	lipocalin 8	65					transport	extracellular region	binding			endometrium(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)	10	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;5.56e-06)|Epithelial(140;8.32e-05)		GGTCAGGTTACTCCCGCTCAA	0.612													13	9					0	0	1	0	0	T	139651520	C	T	139651520	3	4	81	1	0	0	0	0	1	0	0	0	8725	565	20	2	357	2	LCN8	9	139651520	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	33649	139651520	1561911	7633	11249											
KIAA1984	84960	broad.mit.edu	37	9	139697115	139697115	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:139697115G>T	ENST00000338005.6	+	6	578		c.e6-1		RP11-216L13.18_ENST00000471502.1_RNA|RP11-216L13.19_ENST00000415992.1_RNA|KIAA1984_ENST00000371682.3_Splice_Site	NM_001039374.4	NP_001034463.4	Q5T5S1	K1984_HUMAN	KIAA1984											biliary_tract(1)|breast(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	13	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;9.33e-06)|Epithelial(140;0.000124)		ATTCAACACAGGTGCTGGCAG	0.537													11	125					1.58986e-06	1.82794e-06	1	1	0	T	139697115	G	T	139697115	5	4	81	1	0	0	0	0	0	0	1	0	8308	1014	35	4	565	4	KIAA1984	9	139697115	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	45595	139697115	1516316	7634	11250											
KIAA1984	84960	broad.mit.edu	37	9	139701208	139701208	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:139701208G>T	ENST00000338005.6	+	12	1313		c.e12-1		RP11-216L13.18_ENST00000471502.1_RNA|RP11-216L13.19_ENST00000415992.1_RNA|KIAA1984-AS1_ENST00000414656.1_RNA	NM_001039374.4	NP_001034463.4	Q5T5S1	K1984_HUMAN	KIAA1984											biliary_tract(1)|breast(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	13	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;9.33e-06)|Epithelial(140;0.000124)		CCGGCCTACAGAGAGAAGTGG	0.617													4	30					0.00024832	0.000269806	1	1	0	T	139701208	G	T	139701208	5	4	81	1	0	0	0	0	0	0	1	0	8308	956	33	4	1324	4	KIAA1984	9	139701208	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	4093	139701208	1512223	7635	11251											
C9orf172	389813	broad.mit.edu	37	9	139741107	139741107	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:139741107C>T	ENST00000436881.1	+	1	2241	c.2241C>T	c.(2239-2241)cgC>cgT	p.R747R		NM_001080482.2	NP_001073951.2	C9J069	CI172_HUMAN	chromosome 9 open reading frame 172	747										endometrium(2)|large_intestine(1)|lung(6)	9						TCCTGTCGCGCGGCCGCGGCG	0.687													3	10					0	0	1	0	0	T	139741107	C	T	139741107	2	4	81	1	0	0	0	0	0	0	0	1	2489	755	27	1		1	C9orf172	9	139741107	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	39899	139741107	1472324	7636	11252	49	2									
C9orf172	389813	broad.mit.edu	37	9	139741114	139741114	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:139741114G>A	ENST00000436881.1	+	1	2248	c.2248G>A	c.(2248-2250)Ggc>Agc	p.G750S		NM_001080482.2	NP_001073951.2	C9J069	CI172_HUMAN	chromosome 9 open reading frame 172	750										endometrium(2)|large_intestine(1)|lung(6)	9						GCGCGGCCGCGGCGTGCTCTT	0.687													6	8					0	0	1	0	0	A	139741114	G	A	139741114	3	1	81	1	0	0	0	0	1	0	0	0	2489	1116	39	1	2250	1	C9orf172	9	139741114	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	7	139741114	1472317	7637	11253	49	2									
C9orf172	389813	broad.mit.edu	37	9	139741209	139741209	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:139741209G>A	ENST00000436881.1	+	1	2343	c.2343G>A	c.(2341-2343)tcG>tcA	p.S781S		NM_001080482.2	NP_001073951.2	C9J069	CI172_HUMAN	chromosome 9 open reading frame 172	781										endometrium(2)|large_intestine(1)|lung(6)	9						CCTACCTATCGCTGCGTGAGC	0.697													5	6					0	0	1	0	0	A	139741209	G	A	139741209	2	1	81	1	0	0	0	0	0	0	0	1	2489	1074	38	1		1	C9orf172	9	139741209	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	95	139741209	1472222	7638	11254											
EDF1	8721	broad.mit.edu	37	9	139758285	139758285	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:139758285C>A	ENST00000371648.4	-	2	124	c.117G>T	c.(115-117)gaG>gaT	p.E39D	EDF1_ENST00000371649.1_Missense_Mutation_p.E39D|EDF1_ENST00000224073.1_Missense_Mutation_p.E39D	NM_153200.1	NP_694880.1	O60869	EDF1_HUMAN	endothelial differentiation-related factor 1	39	Interaction with NR5A2, PPARG and NR1H3.				endothelial cell differentiation|multicellular organismal development|positive regulation of DNA binding|positive regulation of transcription, DNA-dependent|regulation of lipid metabolic process|transcription, DNA-dependent	cytoplasm|nucleolus|nucleus	calmodulin binding|protein binding|sequence-specific DNA binding|transcription coactivator activity			lung(1)	1	all_cancers(76;0.0841)|all_epithelial(76;0.217)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)		TCTTGGAAGTCTCCACATCTT	0.507													7	62					5.18039e-06	5.88187e-06	1	1	0	A	139758285	C	A	139758285	3	1	81	1	0	0	0	0	1	0	0	0	4940	912	32	4	380	4	EDF1	9	139758285	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	17076	139758285	1455146	7639	11255											
FBXW5	54461	broad.mit.edu	37	9	139835906	139835906	+	Silent	SNP	G	G	A	rs112814747		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:139835906G>A	ENST00000325285.3	-	8	1333	c.1254C>T	c.(1252-1254)taC>taT	p.Y418Y	FBXW5_ENST00000483559.1_5'UTR	NM_018998.3	NP_061871.1	Q969U6	FBXW5_HUMAN	F-box and WD repeat domain containing 5	418							catalytic activity|protein binding			breast(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	12	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.19)	OV - Ovarian serous cystadenocarcinoma(145;7.8e-06)|Epithelial(140;0.000106)		GGCTGTTCACGTACAGGTACC	0.682													9	21					0	0	1	0	0	A	139835906	G	A	139835906	2	1	81	1	0	0	0	0	0	0	0	1	5801	1140	40	1		1	FBXW5	9	139835906	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	77621	139835906	1377525	7640	11256											
PTGDS	5730	broad.mit.edu	37	9	139873514	139873514	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:139873514T>C	ENST00000224167.2	+	2	259	c.184T>C	c.(184-186)Ttg>Ctg	p.L62L	PTGDS_ENST00000460340.1_3'UTR|PTGDS_ENST00000371625.3_Silent_p.L62L			P41222	PTGDS_HUMAN	prostaglandin D2 synthase 21kDa (brain)	62					prostaglandin biosynthetic process|regulation of circadian sleep/wake cycle, sleep	Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum	fatty acid binding|prostaglandin-D synthase activity|retinoid binding|transporter activity			endometrium(2)|kidney(1)|lung(3)|ovary(1)	7	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.19)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		GAAGGCGGCGTTGTCCATGTG	0.687													4	35					0	0	1	0	0	C	139873514	T	C	139873514	2	2	81	1	0	0	0	0	0	0	0	1	12791	1722	60	3		3	PTGDS	9	139873514	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	37608	139873514	1339917	7641	11257											
ABCA2	20	broad.mit.edu	37	9	139910430	139910430	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:139910430G>A	ENST00000265662.5	-	22	3448	c.3301C>T	c.(3301-3303)Cgc>Tgc	p.R1101C	ABCA2_ENST00000371605.3_Missense_Mutation_p.R1100C|ABCA2_ENST00000341511.6_Missense_Mutation_p.R1101C			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	1100	ABC transporter 1.				cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		ATCTCTCTGCGGATCTCCTCC	0.662													15	14					0	0	1	0	0	A	139910430	G	A	139910430	3	1	81	1	0	0	0	0	1	0	0	0	32	1116	39	1	4121	1	ABCA2	9	139910430	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	36916	139910430	1303001	7642	11258											
ABCA2	20	broad.mit.edu	37	9	139911711	139911711	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:139911711C>T	ENST00000265662.5	-	18	2637	c.2490G>A	c.(2488-2490)atG>atA	p.M830I	ABCA2_ENST00000371605.3_Missense_Mutation_p.M829I|ABCA2_ENST00000341511.6_Missense_Mutation_p.M830I			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	829					cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		TCGCCACGTACATGTAGGGCA	0.647													5	56					0	0	1	0	0	T	139911711	C	T	139911711	3	4	81	1	0	0	0	0	1	0	0	0	32	478	17	2	4948	2	ABCA2	9	139911711	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1281	139911711	1301720	7643	11259											
ANAPC2	29882	broad.mit.edu	37	9	140074825	140074825	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:140074825G>A	ENST00000323927.2	-	10	1702	c.1698C>T	c.(1696-1698)gaC>gaT	p.D566D		NM_013366.3	NP_037498.1	Q9UJX6	ANC2_HUMAN	anaphase promoting complex subunit 2	566					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cyclin catabolic process|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of synapse maturation|positive regulation of synaptic plasticity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of cyclin-dependent protein kinase activity	anaphase-promoting complex|cytosol|nucleoplasm	ubiquitin protein ligase binding|ubiquitin-protein ligase activity			breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.000858)		TGCGGCGGGAGTCCGCCATGT	0.667													13	26					0	0	1	0	0	A	140074825	G	A	140074825	2	1	81	1	0	0	0	0	0	0	0	1	599	1020	36	2		2	ANAPC2	9	140074825	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	163114	140074825	1138606	7644	11260											
ANAPC2	29882	broad.mit.edu	37	9	140082371	140082371	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:140082371G>T	ENST00000323927.2	-	2	306	c.302C>A	c.(301-303)tCt>tAt	p.S101Y		NM_013366.3	NP_037498.1	Q9UJX6	ANC2_HUMAN	anaphase promoting complex subunit 2	101					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cyclin catabolic process|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of synapse maturation|positive regulation of synaptic plasticity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of cyclin-dependent protein kinase activity	anaphase-promoting complex|cytosol|nucleoplasm	ubiquitin protein ligase binding|ubiquitin-protein ligase activity			breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.000858)		CTCATCCGCAGAGTTCTCGCA	0.582													7	46					0.0293803	0.0300537	1	1	0	T	140082371	G	T	140082371	3	4	81	1	0	0	0	0	1	0	0	0	599	942	33	4	2214	4	ANAPC2	9	140082371	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	7546	140082371	1131060	7645	11261											
ENTPD8	377841	broad.mit.edu	37	9	140331418	140331418	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:140331418G>T	ENST00000371506.2	-	5	641	c.458C>A	c.(457-459)tCt>tAt	p.S153Y	ENTPD8_ENST00000344119.2_Missense_Mutation_p.S153Y|ENTPD8_ENST00000472938.1_Missense_Mutation_p.S153Y	NM_001033113.1	NP_001028285.1	Q5MY95	ENTP8_HUMAN	ectonucleoside triphosphate diphosphohydrolase 8	153						integral to membrane|plasma membrane	ATP binding			biliary_tract(1)|lung(4)|prostate(1)|skin(1)	7	all_cancers(76;0.0926)			OV - Ovarian serous cystadenocarcinoma(145;0.000224)|Epithelial(140;0.000898)		GTCCACGGGAGACCGGCCCAG	0.642													6	54					5.18039e-06	5.88187e-06	1	1	0	T	140331418	G	T	140331418	3	4	81	1	0	0	0	0	1	0	0	0	5173	942	33	4	1053	4	ENTPD8	9	140331418	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	249047	140331418	882013	7646	11262											
PNPLA7	375775	broad.mit.edu	37	9	140355145	140355145	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:140355145C>T	ENST00000406427.1	-	34	4222	c.3886G>A	c.(3886-3888)Gtc>Atc	p.V1296I	PNPLA7_ENST00000371457.1_Missense_Mutation_p.V877I|PNPLA7_ENST00000277531.4_Missense_Mutation_p.V1271I|PNPLA7_ENST00000492278.1_5'UTR	NM_001098537.1	NP_001092007.1	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	1271					lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		TCCCTGGGGACGTCCAGCAGC	0.632													4	43					0	0	1	0	0	T	140355145	C	T	140355145	3	4	81	1	0	0	0	0	1	0	0	0	12218	536	19	1	150	1	PNPLA7	9	140355145	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	23727	140355145	858286	7647	11263											
MRPL41	64975	broad.mit.edu	37	9	140446582	140446582	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:140446582C>T	ENST00000371443.5	+	2	837	c.49C>T	c.(49-51)Cga>Tga	p.R17*		NM_032477.2	NP_115866.1	Q8IXM3	RM41_HUMAN	mitochondrial ribosomal protein L41	17					apoptosis|cell cycle|translation	mitochondrial large ribosomal subunit	structural constituent of ribosome			breast(1)|lung(1)	2	all_cancers(76;0.106)			OV - Ovarian serous cystadenocarcinoma(145;0.000415)|Epithelial(140;0.00106)		GGGTGCGGACCGAATGAGCAA	0.751													6	19					0	0	1	0	0	T	140446582	C	T	140446582	4	4	81	1	0	0	0	0	0	1	0	0	9854	644	23	1	51	1	MRPL41	9	140446582	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	91437	140446582	766849	7648	11264											
EHMT1	79813	broad.mit.edu	37	9	140611261	140611261	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:140611261G>A	ENST00000460843.1	+	3	296	c.269G>A	c.(268-270)cGg>cAg	p.R90Q	EHMT1_ENST00000371394.2_3'UTR|EHMT1_ENST00000462484.1_Missense_Mutation_p.R90Q|EHMT1_ENST00000334856.6_Missense_Mutation_p.R59Q	NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	90					DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		ACACTAACTCGGATAGCGGAA	0.527													28	52					0	0	1	0	0	A	140611261	G	A	140611261	3	1	81	1	0	0	0	0	1	0	0	0	5009	1116	39	1	279	1	EHMT1	9	140611261	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	164679	140611261	602170	7649	11265											
EHMT1	79813	broad.mit.edu	37	9	140669648	140669648	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:140669648C>T	ENST00000460843.1	+	11	1762	c.1735C>T	c.(1735-1737)Cgg>Tgg	p.R579W	EHMT1_ENST00000371394.2_3'UTR|EHMT1_ENST00000462484.1_Missense_Mutation_p.R579W|EHMT1_ENST00000334856.6_Missense_Mutation_p.R548W	NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	579					DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		TGAAGACCACCGGGGCCGCAT	0.617													9	23					0	0	1	0	0	T	140669648	C	T	140669648	3	4	81	1	0	0	0	0	1	0	0	0	5009	643	23	1	1777	1	EHMT1	9	140669648	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	58387	140669648	543783	7650	11266											
EHMT1	79813	broad.mit.edu	37	9	140685395	140685395	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:140685395C>T	ENST00000460843.1	+	16	2505	c.2478C>T	c.(2476-2478)atC>atT	p.I826I	EHMT1_ENST00000371394.2_3'UTR|EHMT1_ENST00000334856.6_Silent_p.I795I	NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	826					DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		AGTACCTCATCAAGGCTGGGG	0.527													7	68					0	0	1	0	0	T	140685395	C	T	140685395	2	4	81	1	0	0	0	0	0	0	0	1	5009	816	29	2		2	EHMT1	9	140685395	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	15747	140685395	528036	7651	11267											
EHMT1	79813	broad.mit.edu	37	9	140712546	140712546	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:140712546G>A	ENST00000460843.1	+	25	3523	c.3496G>A	c.(3496-3498)Gac>Aac	p.D1166N		NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	1166	Interaction with histone H3.|SET.				DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		CTCAGAAGCCGACGTTCGAGA	0.527													30	48					0	0	1	0	0	A	140712546	G	A	140712546	3	1	81	1	0	0	0	0	1	0	0	0	5009	1058	37	1	3643	1	EHMT1	9	140712546	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	27151	140712546	500885	7652	11268											
CACNA1B	774	broad.mit.edu	37	9	140811789	140811789	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:140811789A>C	ENST00000371372.1	+	6	1017	c.872A>C	c.(871-873)aAc>aCc	p.N291T	CACNA1B_ENST00000277549.5_5'UTR|CACNA1B_ENST00000371355.4_Missense_Mutation_p.N291T|CACNA1B_ENST00000371363.1_Missense_Mutation_p.N291T|CACNA1B_ENST00000371357.1_Missense_Mutation_p.N291T|CACNA1B_ENST00000277551.2_Missense_Mutation_p.N291T	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	291					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	CCAGGACCCAACTTTGGCATC	0.582													36	64					0	0	1	0	0	C	140811789	A	C	140811789	3	2	81	1	0	0	0	0	1	0	0	0	2557	43	2	5	894	5	CACNA1B	9	140811789	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	99243	140811789	401642	7653	11269											
CACNA1B	774	broad.mit.edu	37	9	140865852	140865852	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:140865852G>A	ENST00000371372.1	+	11	1496	c.1351G>A	c.(1351-1353)Gcc>Acc	p.A451T	CACNA1B_ENST00000277549.5_5'UTR|CACNA1B_ENST00000371355.4_Missense_Mutation_p.A452T|CACNA1B_ENST00000371363.1_Missense_Mutation_p.A451T|CACNA1B_ENST00000371357.1_Missense_Mutation_p.A452T|CACNA1B_ENST00000277551.2_Missense_Mutation_p.A451T	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	451					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	CTTCGCCCGCGCCAGCCTCAA	0.602													4	6					0	0	1	0	0	A	140865852	G	A	140865852	3	1	81	1	0	0	0	0	1	0	0	0	2557	1087	38	1	1393	1	CACNA1B	9	140865852	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	54063	140865852	347579	7654	11270											
CACNA1B	774	broad.mit.edu	37	9	140953109	140953109	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:140953109C>T	ENST00000277549.5	+	30	4554	c.1985C>T	c.(1984-1986)aCa>aTa	p.T662I	CACNA1B_ENST00000371355.4_Missense_Mutation_p.T1467I|CACNA1B_ENST00000371372.1_Missense_Mutation_p.T1466I|CACNA1B_ENST00000371363.1_Missense_Mutation_p.T1466I|CACNA1B_ENST00000371357.1_Missense_Mutation_p.T1467I|CACNA1B_ENST00000277551.2_Missense_Mutation_p.T1466I			Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	1466					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	AAGACGTGGACATTTGTGGTC	0.552													5	15					0	0	1	0	0	T	140953109	C	T	140953109	3	4	81	1	0	0	0	0	1	0	0	0	2557	478	17	2	4511	2	CACNA1B	9	140953109	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	87257	140953109	260322	7655	11271											
CACNA1B	774	broad.mit.edu	37	9	141010080	141010080	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:141010080G>A	ENST00000277549.5	+	42	5877	c.3308G>A	c.(3307-3309)cGg>cAg	p.R1103Q	CACNA1B_ENST00000371355.4_Missense_Mutation_p.R1910Q|CACNA1B_ENST00000371372.1_Missense_Mutation_p.R1909Q|CACNA1B_ENST00000371363.1_Missense_Mutation_p.R1907Q|CACNA1B_ENST00000371357.1_Missense_Mutation_p.R1908Q|CACNA1B_ENST00000277551.2_Missense_Mutation_p.R1909Q			Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	1909					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	CGAGGAGCCCGGGTTTTCCTT	0.597													29	45					0	0	1	0	0	A	141010080	G	A	141010080	3	1	81	1	0	0	0	0	1	0	0	0	2557	1116	39	1	5888	1	CACNA1B	9	141010080	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	56971	141010080	203351	7656	11272											
DIP2C	22982	broad.mit.edu	37	10	323451	323451	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:323451G>T	ENST00000280886.6	-	37	4572	c.4485C>A	c.(4483-4485)gcC>gcA	p.A1495A		NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	1495						nucleus	catalytic activity|transcription factor binding			breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		CCAGGTCCAAGGCTTCTTGTT	0.507													4	55					0.00024832	0.000269806	1	1	0	T	323451	G	T	323451	2	4	81	1	0	0	0	0	0	0	0	1	4557	987	35	4		4	DIP2C	10	323451	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08		323451	135211296	7657	11273											
DIP2C	22982	broad.mit.edu	37	10	373112	373112	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:373112C>T	ENST00000280886.6	-	31	3845	c.3758G>A	c.(3757-3759)cGa>cAa	p.R1253Q		NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	1253						nucleus	catalytic activity|transcription factor binding			breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		GTCCAGCCCTCGCGCCTGGAG	0.577													10	19					0	0	1	0	0	T	373112	C	T	373112	3	4	81	1	0	0	0	0	1	0	0	0	4557	884	31	1	940	1	DIP2C	10	373112	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	49661	373112	135161635	7658	11274											
DIP2C	22982	broad.mit.edu	37	10	429983	429983	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:429983C>T	ENST00000280886.6	-	16	1947	c.1860G>A	c.(1858-1860)gcG>gcA	p.A620A	DIP2C_ENST00000381496.3_Silent_p.A513A	NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	620						nucleus	catalytic activity|transcription factor binding			breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		TCGCGCCGTCCGCCACTATCA	0.522													4	35					0	0	1	0	0	T	429983	C	T	429983	2	4	81	1	0	0	0	0	0	0	0	1	4557	639	23	1		1	DIP2C	10	429983	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	56871	429983	135104764	7659	11275											
DIP2C	22982	broad.mit.edu	37	10	465045	465045	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:465045C>T	ENST00000280886.6	-	6	786	c.699G>A	c.(697-699)gcG>gcA	p.A233A	DIP2C_ENST00000381496.3_Silent_p.A126A	NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	233						nucleus	catalytic activity|transcription factor binding			breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		CGTACTTGGGCGCTGTCCGGG	0.557													15	40					0	0	1	0	0	T	465045	C	T	465045	2	4	81	1	0	0	0	0	0	0	0	1	4557	755	27	1		1	DIP2C	10	465045	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	35062	465045	135069702	7660	11276											
DIP2C	22982	broad.mit.edu	37	10	486833	486833	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:486833C>T	ENST00000280886.6	-	4	459	c.372G>A	c.(370-372)tcG>tcA	p.S124S	RP11-490E15.2_ENST00000425723.2_RNA|DIP2C_ENST00000381496.3_Silent_p.S17S	NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	124						nucleus	catalytic activity|transcription factor binding			breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		AGGCGTCCATCGAGGTCTGCA	0.612													24	32					0	0	1	0	0	T	486833	C	T	486833	2	4	81	1	0	0	0	0	0	0	0	1	4557	871	31	1		1	DIP2C	10	486833	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	21788	486833	135047914	7661	11277											
DIP2C	22982	broad.mit.edu	37	10	486879	486879	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:486879G>A	ENST00000280886.6	-	4	413	c.326C>T	c.(325-327)gCa>gTa	p.A109V	RP11-490E15.2_ENST00000425723.2_RNA|DIP2C_ENST00000381496.3_Missense_Mutation_p.A2V	NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	109						nucleus	catalytic activity|transcription factor binding			breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		CATAGGCACTGCCATCTTCCG	0.612													11	28					0	0	1	0	0	A	486879	G	A	486879	3	1	81	1	0	0	0	0	1	0	0	0	4557	1319	46	2	4480	2	DIP2C	10	486879	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	46	486879	135047868	7662	11278											
LARP4B	23185	broad.mit.edu	37	10	859132	859132	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:859132C>T	ENST00000316157.3	-	17	1991	c.1951G>A	c.(1951-1953)Gca>Aca	p.A651T		NM_015155.1	NP_055970.1	Q92615	LAR4B_HUMAN	La ribonucleoprotein domain family, member 4B	651							nucleotide binding|RNA binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	38						CAAATCTCTGCGTAGCTGGGC	0.453													10	72					0	0	1	0	0	T	859132	C	T	859132	3	4	81	1	0	0	0	0	1	0	0	0	8670	768	27	1	269	1	LARP4B	10	859132	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	372253	859132	134675615	7663	11279											
LARP4B	23185	broad.mit.edu	37	10	875496	875496	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:875496A>G	ENST00000316157.3	-	10	994	c.954T>C	c.(952-954)ttT>ttC	p.F318F		NM_015155.1	NP_055970.1	Q92615	LAR4B_HUMAN	La ribonucleoprotein domain family, member 4B	318							nucleotide binding|RNA binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	38						TCTTTGGCAAAAATGTGTTTA	0.428													6	47					0	0	1	0	0	G	875496	A	G	875496	2	3	81	1	0	0	0	0	0	0	0	1	8670	11	1	3		3	LARP4B	10	875496	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	16364	875496	134659251	7664	11280											
LARP4B	23185	broad.mit.edu	37	10	910103	910103	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:910103C>A	ENST00000316157.3	-	3	289	c.249G>T	c.(247-249)tgG>tgT	p.W83C		NM_015155.1	NP_055970.1	Q92615	LAR4B_HUMAN	La ribonucleoprotein domain family, member 4B	83							nucleotide binding|RNA binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	38						CCACCTCCTCCCATGCAGCAC	0.592													9	31					0.000274275	0.000297259	1	1	0	A	910103	C	A	910103	3	1	81	1	0	0	0	0	1	0	0	0	8670	624	22	5	2027	5	LARP4B	10	910103	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	34607	910103	134624644	7665	11281											
KLF6	1316	broad.mit.edu	37	10	3821778	3821778	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:3821778A>C	ENST00000497571.1	-	4	1065	c.805T>G	c.(805-807)Ttt>Gtt	p.F269V	KLF6_ENST00000173785.4_5'UTR|KLF6_ENST00000542957.1_Silent_p.V227V	NM_001160124.1|NM_001300.5	NP_001153596.1|NP_001291.3	Q99612	KLF6_HUMAN	Kruppel-like factor 6	269					B cell differentiation	nucleus	zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				Colorectal(1;0.238)		GACCTGGAAAAACACCTGCAA	0.582													8	13					0	0	1	0	0	C	3821778	A	C	3821778	3	2	81	1	0	0	0	0	1	0	0	0	8393	14	1	5	50	5	KLF6	10	3821778	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	2911675	3821778	131712969	7666	11282											
AKR1E2	83592	broad.mit.edu	37	10	4877927	4877927	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:4877927C>T	ENST00000298375.7	+	4	456	c.385C>T	c.(385-387)Cga>Tga	p.R129*	AKR1E2_ENST00000334019.4_Nonsense_Mutation_p.R129*|AKR1E2_ENST00000532248.1_Nonsense_Mutation_p.R129*|AKR1E2_ENST00000525281.1_3'UTR|AKR1E2_ENST00000345253.5_Nonsense_Mutation_p.R129*	NM_001040177.2	NP_001035267.1	Q96JD6	AKCL2_HUMAN	aldo-keto reductase family 1, member E2	129						cytoplasm	1,5-anhydro-D-fructose reductase activity	p.R129*(1)		NS(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)	15						CTCACATCCTCGAGTGCAGGA	0.527													22	21					0	0	1	0	0	T	4877927	C	T	4877927	4	4	81	1	0	0	0	0	0	1	0	0	471	876	31	1	399	1	AKR1E2	10	4877927	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1056149	4877927	130656820	7667	11283											
AKR1E2	83592	broad.mit.edu	37	10	4884652	4884652	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:4884652A>G	ENST00000298375.7	+	8	864	c.793A>G	c.(793-795)Atc>Gtc	p.I265V	AKR1E2_ENST00000334019.4_Missense_Mutation_p.I208V|AKR1E2_ENST00000532248.1_Missense_Mutation_p.I208V|AKR1E2_ENST00000525281.1_3'UTR|AKR1E2_ENST00000345253.5_Missense_Mutation_p.I167V	NM_001040177.2	NP_001035267.1	Q96JD6	AKCL2_HUMAN	aldo-keto reductase family 1, member E2	265						cytoplasm	1,5-anhydro-D-fructose reductase activity			NS(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)	15						TGTGATAGTGATCCCCGGATC	0.393													47	69					0	0	1	0	0	G	4884652	A	G	4884652	3	3	81	1	0	0	0	0	1	0	0	0	471	333	12	3	823	3	AKR1E2	10	4884652	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	6725	4884652	130650095	7668	11284											
AKR1C2	1646	broad.mit.edu	37	10	5043827	5043827	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:5043827G>A	ENST00000380753.4	-	2	318	c.131C>T	c.(130-132)gCc>gTc	p.A44V	AKR1C2_ENST00000455190.1_Missense_Mutation_p.A44V|AKR1C2_ENST00000407674.1_Missense_Mutation_p.A44V|AKR1C2_ENST00000421196.3_Missense_Mutation_p.A44V	NM_205845.2	NP_995317.1	P52895	AK1C2_HUMAN	aldo-keto reductase family 1, member C2	44					digestion|prostaglandin metabolic process|steroid metabolic process	cytoplasm	androsterone dehydrogenase (A-specific) activity|bile acid binding|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity			breast(1)|large_intestine(5)|lung(3)|skin(1)	10					NADH(DB00157)|Ursodeoxycholic acid(DB01586)	GTGGAACCCGGCTTCTATTGC	0.448													36	58					0	0	1	0	0	A	5043827	G	A	5043827	3	1	81	1	0	0	0	0	1	0	0	0	467	1203	42	2	927	2	AKR1C2	10	5043827	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	159175	5043827	130490920	7669	11285											
NET1	10276	broad.mit.edu	37	10	5493871	5493871	+	Translation_Start_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:5493871G>A	ENST00000542715.1	+	0	225				NET1_ENST00000355029.4_Missense_Mutation_p.A112T|NET1_ENST00000380359.3_Missense_Mutation_p.A58T			Q7Z628	ARHG8_HUMAN	neuroepithelial cell transforming 1						apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of cell growth|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|nucleus	Rho guanyl-nucleotide exchange factor activity			breast(4)|kidney(2)|large_intestine(9)|lung(5)|prostate(2)|skin(1)	23						AAGAAATGGAGCTGTCAGACG	0.413													62	91					0	0	1	0	0	A	5493871	G	A	5493871	1	1	81	1	0	0	0	0	0	0	0	0	10385	971	34	2		2	NET1	10	5493871	Translation_Start_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	450044	5493871	130040876	7670	11286											
CALML5	51806	broad.mit.edu	37	10	5541121	5541121	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:5541121C>T	ENST00000380332.3	-	1	412	c.281G>A	c.(280-282)gGc>gAc	p.G94D		NM_017422.4	NP_059118.2	Q9NZT1	CALL5_HUMAN	calmodulin-like 5	94	EF-hand 3.				epidermis development|signal transduction		calcium ion binding|protein binding			biliary_tract(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|stomach(1)	8						GTGGCCGTCGCCATCCTGGTC	0.706													4	14					0	0	1	0	0	T	5541121	C	T	5541121	3	4	81	1	0	0	0	0	1	0	0	0	2607	739	26	2	163	2	CALML5	10	5541121	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	47250	5541121	129993626	7671	11287											
CALML3	810	broad.mit.edu	37	10	5567216	5567216	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:5567216C>T	ENST00000315238.1	+	1	293	c.168C>T	c.(166-168)atC>atT	p.I56I	CALML3-AS1_ENST00000542093.1_RNA|CALML3-AS1_ENST00000545372.1_RNA|RP11-116G8.5_ENST00000442008.2_RNA	NM_005185.2	NP_005176.1	P27482	CALL3_HUMAN	calmodulin-like 3	56	EF-hand 2.						calcium ion binding			endometrium(3)|lung(2)	5						TGAGTGAGATCGACCGGGACG	0.657													6	15					0	0	1	0	0	T	5567216	C	T	5567216	2	4	81	1	0	0	0	0	0	0	0	1	2605	874	31	1		1	CALML3	10	5567216	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	26095	5567216	129967531	7672	11288											
ASB13	79754	broad.mit.edu	37	10	5693263	5693263	+	Missense_Mutation	SNP	C	C	T	rs149846489		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:5693263C>T	ENST00000357700.6	-	3	321	c.295G>A	c.(295-297)Gag>Aag	p.E99K	ASB13_ENST00000479033.1_Intron	NM_024701.3	NP_078977.2	Q8WXK3	ASB13_HUMAN	ankyrin repeat and SOCS box containing 13	99					intracellular signal transduction		protein binding			NS(1)|endometrium(3)|lung(3)|ovary(1)	8				GBM - Glioblastoma multiforme(2;9.59e-09)		TTCACACACTCGATGCTGCCC	0.622													18	26					0	0	1	0	0	T	5693263	C	T	5693263	3	4	81	1	0	0	0	0	1	0	0	0	1016	893	31	1	557	1	ASB13	10	5693263	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	126047	5693263	129841484	7673	11289											
ANKRD16	54522	broad.mit.edu	37	10	5927718	5927718	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:5927718G>A	ENST00000380094.5	-	3	1089	c.546C>T	c.(544-546)ggC>ggT	p.G182G	ANKRD16_ENST00000380092.4_Silent_p.G182G|ANKRD16_ENST00000191063.8_Silent_p.G182G	NM_019046.2	NP_061919.1	Q6P6B7	ANR16_HUMAN	ankyrin repeat domain 16	182										breast(1)|endometrium(1)|large_intestine(5)|lung(3)|stomach(2)	12						CCTCCAAATGGCCATGCATTG	0.443													29	43					0	0	1	0	0	A	5927718	G	A	5927718	2	1	81	1	0	0	0	0	0	0	0	1	641	1190	42	2		2	ANKRD16	10	5927718	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	234455	5927718	129607029	7674	11290											
IL15RA	3601	broad.mit.edu	37	10	6001721	6001721	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:6001721G>T	ENST00000525219.2	-	5	798	c.504C>A	c.(502-504)acC>acA	p.T168T	IL15RA_ENST00000530685.1_Silent_p.T171T|IL15RA_ENST00000379971.1_Silent_p.T106T|IL15RA_ENST00000397255.3_Silent_p.T204T|IL15RA_ENST00000534292.1_5'UTR|IL15RA_ENST00000379977.3_Silent_p.T204T|IL15RA_ENST00000397248.2_Silent_p.T168T|IL15RA_ENST00000397250.2_Silent_p.T106T|IL15RA_ENST00000528354.1_Silent_p.T171T|IL15RA_ENST00000397251.3_Silent_p.T139T	NM_001243539.1	NP_001230468.1	Q13261	I15RA_HUMAN	interleukin 15 receptor, alpha	204					cell proliferation	cytoplasmic vesicle membrane|endoplasmic reticulum membrane|extracellular space|Golgi membrane|integral to membrane|nuclear membrane	cytokine receptor activity			cervix(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	5						ACTTACCAGTGGTGTCGCTGT	0.582													6	10					0.00198382	0.00209725	1	1	0	T	6001721	G	T	6001721	2	4	81	1	0	0	0	0	0	0	0	1	7676	1335	47	5		5	IL15RA	10	6001721	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	74003	6001721	129533026	7675	11291											
RBM17	84991	broad.mit.edu	37	10	6152028	6152028	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:6152028C>T	ENST00000446108.1	+	7	1286	c.642C>T	c.(640-642)taC>taT	p.Y214Y	RBM17_ENST00000379888.4_Silent_p.Y214Y	NM_001145547.1	NP_001139019.1	Q96I25	SPF45_HUMAN	RNA binding motif protein 17	214				Y -> H (in Ref. 1; AAH09064).	mRNA processing|RNA splicing	spliceosomal complex	nucleotide binding|protein binding|RNA binding			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(2)	19						CCCCAGTGTACGAGGAACAAG	0.453													31	54					0	0	1	0	0	T	6152028	C	T	6152028	2	4	81	1	0	0	0	0	0	0	0	1	13171	547	19	1		1	RBM17	10	6152028	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	150307	6152028	129382719	7676	11292											
PFKFB3	5209	broad.mit.edu	37	10	6255642	6255642	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:6255642G>A	ENST00000379775.4	+	2	463	c.133G>A	c.(133-135)Gcc>Acc	p.A45T	PFKFB3_ENST00000317350.4_Missense_Mutation_p.A45T|PFKFB3_ENST00000379785.1_Missense_Mutation_p.A45T|PFKFB3_ENST00000360521.2_Missense_Mutation_p.A45T|PFKFB3_ENST00000379789.4_Missense_Mutation_p.A25T|PFKFB3_ENST00000540253.1_Missense_Mutation_p.A59T|PFKFB3_ENST00000536985.1_Missense_Mutation_p.A25T|PFKFB3_ENST00000379782.3_Missense_Mutation_p.A45T	NM_004566.3	NP_004557.1	Q16875	F263_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3	45	6-phosphofructo-2-kinase.				fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|liver(2)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)	22						GGGCCTCCCCGCCCGGGGCAA	0.597													39	72					0	0	1	0	0	A	6255642	G	A	6255642	3	1	81	1	0	0	0	0	1	0	0	0	11810	1087	38	1	159	1	PFKFB3	10	6255642	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	103614	6255642	129279105	7677	11293											
PFKFB3	5209	broad.mit.edu	37	10	6259132	6259132	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:6259132C>T	ENST00000379775.4	+	6	806	c.476C>T	c.(475-477)aCa>aTa	p.T159I	PFKFB3_ENST00000317350.4_Missense_Mutation_p.T159I|PFKFB3_ENST00000379785.1_Missense_Mutation_p.T159I|PFKFB3_ENST00000360521.2_Missense_Mutation_p.T159I|PFKFB3_ENST00000379789.4_Missense_Mutation_p.T139I|PFKFB3_ENST00000540253.1_Missense_Mutation_p.T173I|PFKFB3_ENST00000536985.1_Missense_Mutation_p.T139I|PFKFB3_ENST00000379782.3_Missense_Mutation_p.T159I	NM_004566.3	NP_004557.1	Q16875	F263_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3	159	6-phosphofructo-2-kinase.				fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|liver(2)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)	22						GACGACCCTACAGTTGTGGCC	0.557													29	44					0	0	1	0	0	T	6259132	C	T	6259132	3	4	81	1	0	0	0	0	1	0	0	0	11810	478	17	2	518	2	PFKFB3	10	6259132	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3490	6259132	129275615	7678	11294											
PRKCQ	5588	broad.mit.edu	37	10	6520955	6520955	+	Splice_Site	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:6520955T>G	ENST00000263125.5	-	12	1451	c.1352A>C	c.(1351-1353)aAg>aCg	p.K451T	PRKCQ_ENST00000539722.1_Splice_Site_p.K326T|PRKCQ_ENST00000397176.2_Splice_Site_p.K451T	NM_001282644.1|NM_006257.3	NP_001269573.1|NP_006248.1	Q04759	KPCT_HUMAN	protein kinase C, theta	451	Protein kinase.				axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth|T cell receptor signaling pathway	cytosol	ATP binding|metal ion binding|protein binding|protein kinase C activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2)	45						AAGCCATACCTTGGTCTGGAA	0.507													18	31					0	0	1	0	0	G	6520955	T	G	6520955	5	3	81	1	0	0	0	0	0	0	1	0	12567	1623	56	5	796	5	PRKCQ	10	6520955	Splice_Site	SNP	T	TCGA-DU-6392-01A-11D-1705-08	261823	6520955	129013792	7679	11295											
PRKCQ	5588	broad.mit.edu	37	10	6549437	6549437	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:6549437G>A	ENST00000263125.5	-	4	439	c.340C>T	c.(340-342)Cga>Tga	p.R114*	PRKCQ_ENST00000539722.1_Intron|PRKCQ_ENST00000397176.2_Nonsense_Mutation_p.R114*	NM_001282644.1|NM_006257.3	NP_001269573.1|NP_006248.1	Q04759	KPCT_HUMAN	protein kinase C, theta	114	C2.				axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth|T cell receptor signaling pathway	cytosol	ATP binding|metal ion binding|protein binding|protein kinase C activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2)	45						ATTAGCATTCGGCCTTGAGGT	0.468													65	110					0	0	1	0	0	A	6549437	G	A	6549437	4	1	81	1	0	0	0	0	0	1	0	0	12567	1124	39	1	1840	1	PRKCQ	10	6549437	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	28482	6549437	128985310	7680	11296											
PRKCQ	5588	broad.mit.edu	37	10	6557047	6557047	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:6557047G>A	ENST00000263125.5	-	2	150	c.51C>T	c.(49-51)tgC>tgT	p.C17C	PRKCQ_ENST00000539722.1_5'UTR|PRKCQ_ENST00000397176.2_Silent_p.C17C	NM_001282644.1|NM_006257.3	NP_001269573.1|NP_006248.1	Q04759	KPCT_HUMAN	protein kinase C, theta	17	C2.				axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth|T cell receptor signaling pathway	cytosol	ATP binding|metal ion binding|protein binding|protein kinase C activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2)	45						GACAAGACTGGCAGGACCCGC	0.512													8	33					0	0	1	0	0	A	6557047	G	A	6557047	2	1	81	1	0	0	0	0	0	0	0	1	12567	1195	42	2		2	PRKCQ	10	6557047	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	7610	6557047	128977700	7681	11297											
SFMBT2	57713	broad.mit.edu	37	10	7212972	7212972	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:7212972G>A	ENST00000361972.4	-	20	2552	c.2462C>T	c.(2461-2463)cCg>cTg	p.P821L	SFMBT2_ENST00000397167.1_Missense_Mutation_p.P821L	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	821					regulation of transcription, DNA-dependent	nucleus				NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						CCACTCCAACGGGTTGCTCTC	0.592													32	79					0	0	1	0	0	A	7212972	G	A	7212972	3	1	81	1	0	0	0	0	1	0	0	0	14212	1116	39	1	230	1	SFMBT2	10	7212972	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	655925	7212972	128321775	7682	11298											
SFMBT2	57713	broad.mit.edu	37	10	7239607	7239607	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:7239607T>C	ENST00000361972.4	-	15	1691	c.1601A>G	c.(1600-1602)aAc>aGc	p.N534S	SFMBT2_ENST00000397167.1_Missense_Mutation_p.N534S	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	534					regulation of transcription, DNA-dependent	nucleus				NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						ACACCTGTGGTTGATGAAGAG	0.542													6	57					0	0	1	0	0	C	7239607	T	C	7239607	3	2	81	1	0	0	0	0	1	0	0	0	14212	1725	60	3	1111	3	SFMBT2	10	7239607	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	26635	7239607	128295140	7683	11299											
SFMBT2	57713	broad.mit.edu	37	10	7409762	7409762	+	Silent	SNP	C	C	T	rs34359069		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:7409762C>T	ENST00000361972.4	-	4	375	c.285G>A	c.(283-285)acG>acA	p.T95T	SFMBT2_ENST00000379711.2_Silent_p.T95T|SFMBT2_ENST00000397167.1_Silent_p.T95T|SFMBT2_ENST00000379713.3_Silent_p.T95T|SFMBT2_ENST00000397160.3_Silent_p.T95T	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	95					regulation of transcription, DNA-dependent	nucleus				NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						TGGTAATGATCGTGGCCACCC	0.542													18	22					0	0	1	0	0	T	7409762	C	T	7409762	2	4	81	1	0	0	0	0	0	0	0	1	14212	871	31	1		1	SFMBT2	10	7409762	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	170155	7409762	128124985	7684	11300											
ITIH5	80760	broad.mit.edu	37	10	7621856	7621856	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:7621856G>A	ENST00000256861.6	-	9	1358	c.1280C>T	c.(1279-1281)gCc>gTc	p.A427V	ITIH5_ENST00000446830.2_Missense_Mutation_p.A209V|ITIH5_ENST00000397145.2_Missense_Mutation_p.A427V|ITIH5_ENST00000434980.1_5'UTR|ITIH5_ENST00000397146.2_Missense_Mutation_p.A427V|ITIH5_ENST00000298441.6_Missense_Mutation_p.A213V	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	427	VWFA.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						TTGGCCTCGGGCGGCCTCTCG	0.622													17	27					0	0	1	0	0	A	7621856	G	A	7621856	3	1	81	1	0	0	0	0	1	0	0	0	7951	1203	42	2	1695	2	ITIH5	10	7621856	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	212094	7621856	127912891	7685	11301											
KIN	22944	broad.mit.edu	37	10	7801869	7801869	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:7801869G>A	ENST00000379562.4	-	12	1150	c.1103C>T	c.(1102-1104)aCt>aTt	p.T368I	KIN_ENST00000543003.1_Missense_Mutation_p.T262I|KIN_ENST00000535925.1_Missense_Mutation_p.T368I|KIN_ENST00000463666.1_5'UTR	NM_012311.3	NP_036443.1	O60870	KIN17_HUMAN	KIN, antigenic determinant of recA protein homolog (mouse)		C-terminal subdomain B.				DNA recombination|DNA repair|DNA replication|interspecies interaction between organisms|mRNA processing	cytoplasm|nuclear matrix	double-stranded DNA binding|RNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|skin(2)	19						AATGACGATAGTAGCTGAAAA	0.303													4	57					0	0	1	0	0	A	7801869	G	A	7801869	3	1	81	1	0	0	0	0	1	0	0	0	8358	1029	36	2	86	2	KIN	10	7801869	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	180013	7801869	127732878	7686	11302											
KIN	22944	broad.mit.edu	37	10	7817764	7817765	+	Splice_Site	INS	-	-	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:7817764_7817765insA	ENST00000379562.4	-	6	606		c.e6-2		KIN_ENST00000543003.1_Splice_Site|KIN_ENST00000535925.1_Splice_Site	NM_012311.3	NP_036443.1	O60870	KIN17_HUMAN	KIN, antigenic determinant of recA protein homolog (mouse)						DNA recombination|DNA repair|DNA replication|interspecies interaction between organisms|mRNA processing	cytoplasm|nuclear matrix	double-stranded DNA binding|RNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|skin(2)	19						AGGGACCTCCTAAAAAAAAGAA	0.317													12	25	---	---	---	---						A	7817765	-	A	7817764	8	5	81	1	0	1	1	0	0	0	1	0	8358	1536	53	0	656	0	KIN	10	7817764	Splice_Site	INS	-	TCGA-DU-6392-01A-11D-1705-08	15895	7817764	127716983	7687	11303											
KIN	22944	broad.mit.edu	37	10	7820976	7820976	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:7820976C>T	ENST00000379562.4	-	5	430	c.383G>A	c.(382-384)tGc>tAc	p.C128Y	KIN_ENST00000543003.1_Missense_Mutation_p.C22Y|KIN_ENST00000535925.1_Missense_Mutation_p.C128Y	NM_012311.3	NP_036443.1	O60870	KIN17_HUMAN	KIN, antigenic determinant of recA protein homolog (mouse)						DNA recombination|DNA repair|DNA replication|interspecies interaction between organisms|mRNA processing	cytoplasm|nuclear matrix	double-stranded DNA binding|RNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|skin(2)	19						GTCCACTTTGCACAAGCCTTA	0.393													25	53					0	0	1	0	0	T	7820976	C	T	7820976	3	4	81	1	0	0	0	0	1	0	0	0	8358	710	25	2	834	2	KIN	10	7820976	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3212	7820976	127713771	7688	11304											
KIN	22944	broad.mit.edu	37	10	7822111	7822111	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:7822111T>C	ENST00000379562.4	-	4	331	c.284A>G	c.(283-285)tAc>tGc	p.Y95C	KIN_ENST00000543003.1_5'UTR|KIN_ENST00000535925.1_Missense_Mutation_p.Y95C	NM_012311.3	NP_036443.1	O60870	KIN17_HUMAN	KIN, antigenic determinant of recA protein homolog (mouse)						DNA recombination|DNA repair|DNA replication|interspecies interaction between organisms|mRNA processing	cytoplasm|nuclear matrix	double-stranded DNA binding|RNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|skin(2)	19						GTATTCGTTGTAGACAATGTT	0.408													5	122					0	0	1	0	0	C	7822111	T	C	7822111	3	2	81	1	0	0	0	0	1	0	0	0	8358	1638	57	3	937	3	KIN	10	7822111	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	1135	7822111	127712636	7689	11305											
TAF3	83860	broad.mit.edu	37	10	8005992	8005992	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:8005992G>T	ENST00000344293.5	+	3	725	c.519G>T	c.(517-519)gaG>gaT	p.E173D		NM_031923.3	NP_114129.1	Q5VWG9	TAF3_HUMAN	TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa	173					maintenance of protein location in nucleus|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	transcription factor TFIID complex	protein binding|zinc ion binding			NS(2)|breast(4)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(3)|prostate(4)|skin(2)	40						TTAATGATGAGAATTTCCTGG	0.493													5	49					0.184627	0.18622	1	1	0	T	8005992	G	T	8005992	3	4	81	1	0	0	0	0	1	0	0	0	15582	933	33	4	529	4	TAF3	10	8005992	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	183881	8005992	127528755	7690	11306											
GATA3	2625	broad.mit.edu	37	10	8100600	8100600	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:8100600G>A	ENST00000379328.3	+	3	1142	c.574G>A	c.(574-576)Gac>Aac	p.D192N	GATA3_ENST00000461472.1_3'UTR|GATA3_ENST00000346208.3_Missense_Mutation_p.D192N	NM_001002295.1|NM_002051.2	NP_001002295.1|NP_002042.1	P23771	GATA3_HUMAN	GATA binding protein 3	192					aortic valve morphogenesis|blood coagulation|canonical Wnt receptor signaling pathway involved in metanephric kidney development|cardiac right ventricle morphogenesis|cell fate determination|cellular response to interferon-alpha|cellular response to interleukin-4|cellular response to tumor necrosis factor|defense response|ear development|lymphocyte migration|male gonad development|mesenchymal to epithelial transition|mesonephros development|negative regulation of cell cycle|negative regulation of cell motility|negative regulation of cell proliferation involved in mesonephros development|negative regulation of endothelial cell apoptosis|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation|negative regulation of inflammatory response|negative regulation of mammary gland epithelial cell proliferation|nephric duct formation|norepinephrine biosynthetic process|pharyngeal system development|phosphatidylinositol 3-kinase cascade|positive regulation of endothelial cell migration|positive regulation of interleukin-13 secretion|positive regulation of interleukin-4 production|positive regulation of interleukin-5 secretion|positive regulation of protein kinase B signaling cascade|positive regulation of T cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of ureteric bud formation|regulation of cellular response to X-ray|regulation of cytokine biosynthetic process|regulation of nephron tubule epithelial cell differentiation|response to estrogen stimulus|response to virus|sympathetic nervous system development|T cell receptor signaling pathway|TOR signaling cascade|ureteric bud formation|uterus development|ventricular septum development	nuclear chromatin|nucleolus|nucleoplasm	core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|E-box binding|HMG box domain binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription coactivator activity|transcription factor binding|zinc ion binding			NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2)	87						GCCCCTGCCCGACAGCATGAA	0.682			"F, N, S"		breast		"HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"						21	59					0	0	1	0	0	A	8100600	G	A	8100600	3	1	81	1	0	0	0	0	1	0	0	0	6295	1058	37	1	580	1	GATA3	10	8100600	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	94608	8100600	127434147	7691	11307											
GATA3	2625	broad.mit.edu	37	10	8115914	8115914	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:8115914G>A	ENST00000379328.3	+	6	1831	c.1263G>A	c.(1261-1263)acG>acA	p.T421T	GATA3_ENST00000461472.1_3'UTR|GATA3_ENST00000346208.3_Silent_p.T420T	NM_001002295.1|NM_002051.2	NP_001002295.1|NP_002042.1	P23771	GATA3_HUMAN	GATA binding protein 3	420					aortic valve morphogenesis|blood coagulation|canonical Wnt receptor signaling pathway involved in metanephric kidney development|cardiac right ventricle morphogenesis|cell fate determination|cellular response to interferon-alpha|cellular response to interleukin-4|cellular response to tumor necrosis factor|defense response|ear development|lymphocyte migration|male gonad development|mesenchymal to epithelial transition|mesonephros development|negative regulation of cell cycle|negative regulation of cell motility|negative regulation of cell proliferation involved in mesonephros development|negative regulation of endothelial cell apoptosis|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation|negative regulation of inflammatory response|negative regulation of mammary gland epithelial cell proliferation|nephric duct formation|norepinephrine biosynthetic process|pharyngeal system development|phosphatidylinositol 3-kinase cascade|positive regulation of endothelial cell migration|positive regulation of interleukin-13 secretion|positive regulation of interleukin-4 production|positive regulation of interleukin-5 secretion|positive regulation of protein kinase B signaling cascade|positive regulation of T cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of ureteric bud formation|regulation of cellular response to X-ray|regulation of cytokine biosynthetic process|regulation of nephron tubule epithelial cell differentiation|response to estrogen stimulus|response to virus|sympathetic nervous system development|T cell receptor signaling pathway|TOR signaling cascade|ureteric bud formation|uterus development|ventricular septum development	nuclear chromatin|nucleolus|nucleoplasm	core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|E-box binding|HMG box domain binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription coactivator activity|transcription factor binding|zinc ion binding			NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2)	87						CCACGCCCACGCCGATGCACC	0.642			"F, N, S"		breast		"HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"						21	39					0	0	1	0	0	A	8115914	G	A	8115914	2	1	81	1	0	0	0	0	0	0	0	1	6295	1074	38	1		1	GATA3	10	8115914	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	15314	8115914	127418833	7692	11308											
CELF2	10659	broad.mit.edu	37	10	11363273	11363273	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:11363273C>T	ENST00000379261.4	+	11	1271	c.1179C>T	c.(1177-1179)taC>taT	p.Y393Y	CELF2_ENST00000542579.1_Silent_p.Y406Y|CELF2_ENST00000427450.1_Silent_p.Y375Y|CELF2_ENST00000354440.2_Silent_p.Y375Y|CELF2_ENST00000416382.2_Silent_p.Y393Y|CELF2_ENST00000537122.1_Silent_p.Y288Y|CELF2_ENST00000609692.1_Silent_p.Y373Y|CELF2_ENST00000608830.1_Silent_p.Y373Y|CELF2_ENST00000315874.4_Silent_p.Y375Y|CELF2_ENST00000417956.2_Silent_p.Y373Y|CELF2_ENST00000399850.3_Silent_p.Y375Y|CELF2_ENST00000450189.1_Silent_p.Y406Y|CELF2_ENST00000354897.3_Silent_p.Y387Y	NM_001025077.2	NP_001020248.1	O95319	CELF2_HUMAN	CUGBP, Elav-like family member 2	393	Ala-rich.|Necessary for RNA-binding, TNNT2 exon 5 and NMDA R1 exon 21 inclusion.				mRNA processing|regulation of heart contraction	cytoplasm|nucleus	nucleotide binding|protein binding|RNA binding			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	16						TTCAACAGTACGCAGCCGCCG	0.652													5	39					0	0	1	0	0	T	11363273	C	T	11363273	2	4	81	1	0	0	0	0	0	0	0	1	3238	547	19	1		1	CELF2	10	11363273	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3247359	11363273	124171474	7693	11309											
USP6NL	9712	broad.mit.edu	37	10	11505270	11505270	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:11505270T>C	ENST00000609104.1	-	15	2051	c.1657A>G	c.(1657-1659)Aac>Gac	p.N553D	USP6NL_ENST00000379237.2_Missense_Mutation_p.N576D|USP6NL_ENST00000277575.5_Missense_Mutation_p.N570D	NM_014688.2	NP_055503.1	Q92738	US6NL_HUMAN	USP6 N-terminal like							intracellular	Rab GTPase activator activity			endometrium(3)|kidney(2)|large_intestine(6)|lung(18)|prostate(1)|skin(1)|urinary_tract(1)	32						CCTGGCACGTTGTCGTACTGC	0.667													33	44					0	0	1	0	0	C	11505270	T	C	11505270	3	2	81	1	0	0	0	0	1	0	0	0	17147	1812	63	3	833	3	USP6NL	10	11505270	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	141997	11505270	124029477	7694	11310											
USP6NL	9712	broad.mit.edu	37	10	11535183	11535183	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:11535183T>C	ENST00000609104.1	-	8	823	c.429A>G	c.(427-429)caA>caG	p.Q143Q	USP6NL_ENST00000379237.2_Silent_p.Q166Q|USP6NL_ENST00000277575.5_Silent_p.Q160Q	NM_014688.2	NP_055503.1	Q92738	US6NL_HUMAN	USP6 N-terminal like		Rab-GAP TBC.					intracellular	Rab GTPase activator activity			endometrium(3)|kidney(2)|large_intestine(6)|lung(18)|prostate(1)|skin(1)|urinary_tract(1)	32						CCAGGTCTATTTGTCTGATGT	0.368													8	11					0	0	1	0	0	C	11535183	T	C	11535183	2	2	81	1	0	0	0	0	0	0	0	1	17147	1838	64	3		3	USP6NL	10	11535183	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	29913	11535183	123999564	7695	11311											
DHTKD1	55526	broad.mit.edu	37	10	12160831	12160831	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:12160831A>G	ENST00000263035.4	+	15	2548	c.2486A>G	c.(2485-2487)gAc>gGc	p.D829G		NM_018706.5	NP_061176	Q96HY7	DHTK1_HUMAN	dehydrogenase E1 and transketolase domain containing 1	829					glycolysis	mitochondrion	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1)	44		Renal(717;0.228)	BRCA - Breast invasive adenocarcinoma(52;0.188)			AAGAAGCATGACTTTGCCATC	0.468													25	155					0	0	1	0	0	G	12160831	A	G	12160831	3	3	81	1	0	0	0	0	1	0	0	0	4528	275	10	3	2544	3	DHTKD1	10	12160831	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	625648	12160831	123373916	7696	11312											
SEC61A2	55176	broad.mit.edu	37	10	12197318	12197318	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:12197318C>T	ENST00000379051.1	+	7	622	c.471C>T	c.(469-471)caC>caT	p.H157H	SEC61A2_ENST00000304267.8_Intron|SEC61A2_ENST00000495368.1_Intron|SEC61A2_ENST00000379020.4_Intron|SEC61A2_ENST00000379033.3_Intron|SEC61A2_ENST00000298428.9_Intron			Q9H9S3	S61A2_HUMAN	Sec61 alpha 2 subunit (S. cerevisiae)	0						endoplasmic reticulum membrane|integral to membrane	P-P-bond-hydrolysis-driven protein transmembrane transporter activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Renal(717;0.228)				AGGATCAACACAGCCCTTAGA	0.299													6	9					0	0	1	0	0	T	12197318	C	T	12197318	2	4	81	1	0	0	0	0	0	0	0	1	14055	493	17	2		2	SEC61A2	10	12197318	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	36487	12197318	123337429	7697	11313											
CAMK1D	57118	broad.mit.edu	37	10	12595236	12595236	+	Silent	SNP	C	C	T	rs141516444		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:12595236C>T	ENST00000378847.3	+	2	442	c.105C>T	c.(103-105)tcC>tcT	p.S35S	CAMK1D_ENST00000378845.1_Silent_p.S35S|CAMK1D_ENST00000487696.1_Intron	NM_153498.2	NP_705718.1	Q8IU85	KCC1D_HUMAN	calcium/calmodulin-dependent protein kinase ID	35	Protein kinase.					calcium- and calmodulin-dependent protein kinase complex|cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	p.S35S(2)		endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)	16				GBM - Glioblastoma multiforme(1;3.16e-05)		GGGCCTTTTCCGAAGTGGTTT	0.468													38	68					0	0	1	0	0	T	12595236	C	T	12595236	2	4	81	1	0	0	0	0	0	0	0	1	2615	639	23	1		1	CAMK1D	10	12595236	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	397918	12595236	122939511	7698	11314											
CAMK1D	57118	broad.mit.edu	37	10	12803078	12803078	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:12803078A>G	ENST00000378847.3	+	4	768	c.431A>G	c.(430-432)gAc>gGc	p.D144G	CAMK1D_ENST00000378845.1_Missense_Mutation_p.D144G	NM_153498.2	NP_705718.1	Q8IU85	KCC1D_HUMAN	calcium/calmodulin-dependent protein kinase ID	144	Protein kinase.					calcium- and calmodulin-dependent protein kinase complex|cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)	16				GBM - Glioblastoma multiforme(1;3.16e-05)		GTCCACAGAGACCTCAAGGTG	0.587													5	12					0	0	1	0	0	G	12803078	A	G	12803078	3	3	81	1	0	0	0	0	1	0	0	0	2615	275	10	3	445	3	CAMK1D	10	12803078	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	207842	12803078	122731669	7699	11315											
CAMK1D	57118	broad.mit.edu	37	10	12867689	12867689	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:12867689T>A	ENST00000378845.1	+	10	1125	c.1039T>A	c.(1039-1041)Tgt>Agt	p.C347S	CAMK1D_ENST00000378847.3_Splice_Site_p.C347S	NM_020397.2	NP_065130.1	Q8IU85	KCC1D_HUMAN	calcium/calmodulin-dependent protein kinase ID	347	Ser-rich.					calcium- and calmodulin-dependent protein kinase complex|cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)	16				GBM - Glioblastoma multiforme(1;3.16e-05)		CCAAAAAGACTGTGCGTATGT	0.552													38	64					0	0	1	0	0	A	12867689	T	A	12867689	3	1	81	1	0	0	0	0	1	0	0	0	2615	1594	55	5	1077	5	CAMK1D	10	12867689	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	64611	12867689	122667058	7700	11316											
MCM10	55388	broad.mit.edu	37	10	13214455	13214455	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:13214455C>T	ENST00000378694.1	+	3	504	c.429C>T	c.(427-429)agC>agT	p.S143S	MCM10_ENST00000378714.3_Silent_p.S143S|MCM10_ENST00000484800.2_Silent_p.S143S			Q7L590	MCM10_HUMAN	minichromosome maintenance complex component 10	143					cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle	nucleoplasm	metal ion binding|protein binding			central_nervous_system(1)|large_intestine(4)|ovary(2)|skin(1)|stomach(1)	9						AGACAGCAAGCCCAGCCCGTC	0.373													8	101					0	0	1	0	0	T	13214455	C	T	13214455	2	4	81	1	0	0	0	0	0	0	0	1	9435	738	26	2		2	MCM10	10	13214455	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	346766	13214455	122320292	7701	11317											
MCM10	55388	broad.mit.edu	37	10	13228229	13228229	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:13228229C>A	ENST00000378694.1	+	8	1239	c.1164C>A	c.(1162-1164)acC>acA	p.T388T	MCM10_ENST00000378714.3_Silent_p.T388T|MCM10_ENST00000484800.2_Silent_p.T389T			Q7L590	MCM10_HUMAN	minichromosome maintenance complex component 10	389					cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle	nucleoplasm	metal ion binding|protein binding			central_nervous_system(1)|large_intestine(4)|ovary(2)|skin(1)|stomach(1)	9						ACCTGGGAACCTGTAAAGCCA	0.448													11	126					1.08611e-07	1.27405e-07	1	1	0	A	13228229	C	A	13228229	2	1	81	1	0	0	0	0	0	0	0	1	9435	668	24	4		4	MCM10	10	13228229	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	13774	13228229	122306518	7702	11318											
MCM10	55388	broad.mit.edu	37	10	13230881	13230881	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:13230881C>T	ENST00000378694.1	+	9	1291	c.1216C>T	c.(1216-1218)Cgt>Tgt	p.R406C	MCM10_ENST00000378714.3_Splice_Site_p.R406C|MCM10_ENST00000484800.2_Splice_Site_p.R407C			Q7L590	MCM10_HUMAN	minichromosome maintenance complex component 10	407	Zinc finger-like.				cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle	nucleoplasm	metal ion binding|protein binding			central_nervous_system(1)|large_intestine(4)|ovary(2)|skin(1)|stomach(1)	9						CCTTTTGCAGCGTGACTGTGA	0.557													43	93					0	0	1	0	0	T	13230881	C	T	13230881	5	4	81	1	0	0	0	0	0	0	1	0	9435	782	27	1	1253	1	MCM10	10	13230881	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2652	13230881	122303866	7703	11319											
MCM10	55388	broad.mit.edu	37	10	13231056	13231056	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:13231056C>A	ENST00000378694.1	+	9	1466	c.1391C>A	c.(1390-1392)tCt>tAt	p.S464Y	MCM10_ENST00000378714.3_Missense_Mutation_p.S464Y|MCM10_ENST00000484800.2_Missense_Mutation_p.S465Y			Q7L590	MCM10_HUMAN	minichromosome maintenance complex component 10	465					cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle	nucleoplasm	metal ion binding|protein binding			central_nervous_system(1)|large_intestine(4)|ovary(2)|skin(1)|stomach(1)	9						GGAGGGGTTTCTTCTGCCTCG	0.493													6	84					0.0293803	0.0300537	1	1	0	A	13231056	C	A	13231056	3	1	81	1	0	0	0	0	1	0	0	0	9435	913	32	4	1428	4	MCM10	10	13231056	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	175	13231056	122303691	7704	11320											
MCM10	55388	broad.mit.edu	37	10	13246221	13246221	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:13246221C>T	ENST00000378694.1	+	17	2430	c.2355C>T	c.(2353-2355)tgC>tgT	p.C785C	MCM10_ENST00000378714.3_Silent_p.C785C|MCM10_ENST00000484800.2_Silent_p.C786C			Q7L590	MCM10_HUMAN	minichromosome maintenance complex component 10	786					cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle	nucleoplasm	metal ion binding|protein binding			central_nervous_system(1)|large_intestine(4)|ovary(2)|skin(1)|stomach(1)	9						CTGTGCAGTGCGCCTATACCC	0.522													9	22					0	0	1	0	0	T	13246221	C	T	13246221	2	4	81	1	0	0	0	0	0	0	0	1	9435	776	27	1		1	MCM10	10	13246221	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	15165	13246221	122288526	7705	11321											
UCMA	221044	broad.mit.edu	37	10	13276238	13276238	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:13276238G>A	ENST00000378681.3	-	1	93	c.21C>T	c.(19-21)gtC>gtT	p.V7V	UCMA_ENST00000463405.2_Silent_p.V7V	NM_145314.1	NP_660357.2	Q8WVF2	UCMA_HUMAN	upper zone of growth plate and cartilage matrix associated	7						proteinaceous extracellular matrix				breast(2)|endometrium(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	9						AAGACAGCAGGACGGCCTGTC	0.582													3	28					0	0	1	0	0	A	13276238	G	A	13276238	2	1	81	1	0	0	0	0	0	0	0	1	16986	1161	41	2		2	UCMA	10	13276238	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	30017	13276238	122258509	7706	11322											
UCMA	221044	broad.mit.edu	37	10	13276280	13276280	+	Translation_Start_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:13276280G>A	ENST00000378681.3	-	0	51				UCMA_ENST00000463405.2_De_novo_Start_OutOfFrame	NM_145314.1	NP_660357.2	Q8WVF2	UCMA_HUMAN	upper zone of growth plate and cartilage matrix associated							proteinaceous extracellular matrix				breast(2)|endometrium(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	9						TAGGGGCTCCGTCCAGGACCC	0.627													10	13					0	0	1	0	0	A	13276280	G	A	13276280	1	1	81	1	0	0	0	0	0	0	0	0	16986	1160	40	1		1	UCMA	10	13276280	Translation_Start_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	42	13276280	122258467	7707	11323											
FRMD4A	55691	broad.mit.edu	37	10	13701455	13701455	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:13701455G>A	ENST00000357447.2	-	21	2302	c.1934C>T	c.(1933-1935)gCg>gTg	p.A645V	FRMD4A_ENST00000358621.4_Missense_Mutation_p.A630V|FRMD4A_ENST00000378503.1_Missense_Mutation_p.A645V	NM_018027.3	NP_060497.3	Q9P2Q2	FRM4A_HUMAN	FERM domain containing 4A	645	Ser-rich.					cytoplasm|cytoskeleton	binding	p.A645V(1)		breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						GCCGGCTTCCGCACAGCTTCC	0.657													18	33					0	0	1	0	0	A	13701455	G	A	13701455	3	1	81	1	0	0	0	0	1	0	0	0	6086	1087	38	1	1201	1	FRMD4A	10	13701455	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	425175	13701455	121833292	7708	11324											
FAM107B	83641	broad.mit.edu	37	10	14563963	14563963	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:14563963G>A	ENST00000181796.2	-	4	942	c.709C>T	c.(709-711)Cga>Tga	p.R237*	FAM107B_ENST00000378462.1_Nonsense_Mutation_p.R62*|FAM107B_ENST00000479731.1_Nonsense_Mutation_p.R62*|FAM107B_ENST00000378470.1_Nonsense_Mutation_p.R62*|FAM107B_ENST00000468747.1_Nonsense_Mutation_p.R62*|FAM107B_ENST00000378458.2_Nonsense_Mutation_p.R62*|FAM107B_ENST00000378465.3_Nonsense_Mutation_p.R62*|FAM107B_ENST00000496330.1_Nonsense_Mutation_p.R62*|FAM107B_ENST00000478076.1_Nonsense_Mutation_p.R62*|FAM107B_ENST00000378467.4_Nonsense_Mutation_p.R62*	NM_031453.2	NP_113641.2	Q9H098	F107B_HUMAN	family with sequence similarity 107, member B	62										breast(7)|kidney(1)|large_intestine(4)|lung(7)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						ACTTGGTCTCGTTTTCTTTTT	0.398													24	49					0	0	1	0	0	A	14563963	G	A	14563963	4	1	81	1	0	0	0	0	0	1	0	0	5421	1153	40	1	219	1	FAM107B	10	14563963	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	862508	14563963	120970784	7709	11325											
HSPA14	51182	broad.mit.edu	37	10	14909123	14909123	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:14909123G>T	ENST00000378372.3	+	11	1274	c.1035G>T	c.(1033-1035)caG>caT	p.Q345H		NM_016299.2	NP_057383.2	Q0VDF9	HSP7E_HUMAN	heat shock 70kDa protein 14	345					'de novo' cotranslational protein folding	cytosol	ATP binding|protein binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)	17						CAAAGCTACAGCAACTGATTA	0.383													11	120					0.00829132	0.00865729	1	1	0	T	14909123	G	T	14909123	3	4	81	1	0	0	0	0	1	0	0	0	7450	962	34	4	1077	4	HSPA14	10	14909123	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	345160	14909123	120625624	7710	11326											
NMT2	9397	broad.mit.edu	37	10	15170447	15170447	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:15170447G>A	ENST00000378165.4	-	8	981	c.901C>T	c.(901-903)Cga>Tga	p.R301*	NMT2_ENST00000535341.1_Nonsense_Mutation_p.R288*|NMT2_ENST00000540259.1_Nonsense_Mutation_p.R113*|RPP38_ENST00000451677.1_Intron|NMT2_ENST00000378150.1_Nonsense_Mutation_p.R288*	NM_004808.2	NP_004799.1	O60551	NMT2_HUMAN	N-myristoyltransferase 2	301					N-terminal protein myristoylation|protein lipoylation	Golgi apparatus|plasma membrane	glycylpeptide N-tetradecanoyltransferase activity			breast(3)|endometrium(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(3)	21						TTTAGTGATCGATGCCAGTAT	0.338													8	72					0	0	1	0	0	A	15170447	G	A	15170447	4	1	81	1	0	0	0	0	0	1	0	0	10551	1066	37	1	615	1	NMT2	10	15170447	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	261324	15170447	120364300	7711	11327											
NMT2	9397	broad.mit.edu	37	10	15175059	15175059	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:15175059G>T	ENST00000378165.4	-	5	675	c.595C>A	c.(595-597)Ctg>Atg	p.L199M	NMT2_ENST00000535341.1_Missense_Mutation_p.L186M|NMT2_ENST00000540259.1_Missense_Mutation_p.L11M|RPP38_ENST00000451677.1_Intron|NMT2_ENST00000378150.1_Missense_Mutation_p.L186M	NM_004808.2	NP_004799.1	O60551	NMT2_HUMAN	N-myristoyltransferase 2	199					N-terminal protein myristoylation|protein lipoylation	Golgi apparatus|plasma membrane	glycylpeptide N-tetradecanoyltransferase activity			breast(3)|endometrium(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(3)	21						TACCACAACAGGAACTCGGGT	0.433													5	63					1.23904e-05	1.39156e-05	1	1	0	T	15175059	G	T	15175059	3	4	81	1	0	0	0	0	1	0	0	0	10551	991	35	4	933	4	NMT2	10	15175059	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	4612	15175059	120359688	7712	11328											
FAM171A1	221061	broad.mit.edu	37	10	15256192	15256192	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:15256192G>T	ENST00000378116.4	-	8	1401	c.1395C>A	c.(1393-1395)ccC>ccA	p.P465P	FAM171A1_ENST00000477161.1_5'UTR	NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN	family with sequence similarity 171, member A1	465			P -> S (in dbSNP:rs3814165).			integral to membrane				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						TTGCCTTTAAGGGAAAAACCT	0.463													5	56					0.0215528	0.0221217	1	1	0	T	15256192	G	T	15256192	2	4	81	1	0	0	0	0	0	0	0	1	5520	987	35	4		4	FAM171A1	10	15256192	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	81133	15256192	120278555	7713	11329											
FAM171A1	221061	broad.mit.edu	37	10	15256494	15256494	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:15256494G>T	ENST00000378116.4	-	8	1099	c.1093C>A	c.(1093-1095)Ctg>Atg	p.L365M	FAM171A1_ENST00000477161.1_5'UTR	NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN	family with sequence similarity 171, member A1	365						integral to membrane				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						CGTGAAAACAGCAAGTTAATG	0.587													15	25					6.72482e-11	8.27642e-11	1	1	0	T	15256494	G	T	15256494	3	4	81	1	0	0	0	0	1	0	0	0	5520	962	34	4	1583	4	FAM171A1	10	15256494	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	302	15256494	120278253	7714	11330											
FAM171A1	221061	broad.mit.edu	37	10	15296864	15296864	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:15296864G>A	ENST00000378116.4	-	4	439	c.433C>T	c.(433-435)Cct>Tct	p.P145S		NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN	family with sequence similarity 171, member A1	145						integral to membrane				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						TGAACGCGAGGCTGTGGCCGG	0.552													9	10					0	0	1	0	0	A	15296864	G	A	15296864	3	1	81	1	0	0	0	0	1	0	0	0	5520	1203	42	2	2259	2	FAM171A1	10	15296864	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	40370	15296864	120237883	7715	11331											
ITGA8	8516	broad.mit.edu	37	10	15649769	15649769	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:15649769G>T	ENST00000378076.3	-	17	2024	c.1671C>A	c.(1669-1671)ctC>ctA	p.L557L		NM_003638.1	NP_003629	P53708	ITA8_HUMAN	integrin, alpha 8	557					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						TATCAAGGAAGAGCGTCCGTT	0.428													7	154					8.12818e-05	8.94031e-05	1	1	0	T	15649769	G	T	15649769	2	4	81	1	0	0	0	0	0	0	0	1	7926	929	33	4		4	ITGA8	10	15649769	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	352905	15649769	119884978	7716	11332											
ITGA8	8516	broad.mit.edu	37	10	15726009	15726009	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:15726009G>A	ENST00000378076.3	-	4	915	c.562C>T	c.(562-564)Cgg>Tgg	p.R188W		NM_003638.1	NP_003629	P53708	ITA8_HUMAN	integrin, alpha 8	188				R -> G (in Ref. 5; AAA93514).	cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						TTACTGTTCCGGCAAGGAGAG	0.453													27	47					0	0	1	0	0	A	15726009	G	A	15726009	3	1	81	1	0	0	0	0	1	0	0	0	7926	1115	39	1	2737	1	ITGA8	10	15726009	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	76240	15726009	119808738	7717	11333											
ITGA8	8516	broad.mit.edu	37	10	15726032	15726032	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:15726032G>A	ENST00000378076.3	-	4	892	c.539C>T	c.(538-540)gCc>gTc	p.A180V		NM_003638.1	NP_003629	P53708	ITA8_HUMAN	integrin, alpha 8	180					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						CTCGGCATAGGCGCTGAAGTT	0.463													32	36					0	0	1	0	0	A	15726032	G	A	15726032	3	1	81	1	0	0	0	0	1	0	0	0	7926	1203	42	2	2760	2	ITGA8	10	15726032	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	23	15726032	119808715	7718	11334											
FAM188A	80013	broad.mit.edu	37	10	15902255	15902255	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:15902255G>A	ENST00000277632.3	-	1	264	c.44C>T	c.(43-45)aCc>aTc	p.T15I	FAM188A_ENST00000477891.1_5'UTR	NM_024948.2	NP_079224.1	Q9H8M7	F188A_HUMAN	family with sequence similarity 188, member A	15					apoptosis	nucleus	calcium ion binding			breast(2)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	22						GCTGCTCTTGGTGCCCCACAC	0.622													5	11					0	0	1	0	0	A	15902255	G	A	15902255	3	1	81	1	0	0	0	0	1	0	0	0	5545	1261	44	2	1353	2	FAM188A	10	15902255	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	176223	15902255	119632492	7719	11335											
PTER	9317	broad.mit.edu	37	10	16528435	16528435	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:16528435T>G	ENST00000378000.1	+	4	763	c.517T>G	c.(517-519)Tcc>Gcc	p.S173A	PTER_ENST00000298942.3_Missense_Mutation_p.S173A|PTER_ENST00000535784.2_Missense_Mutation_p.S173A|PTER_ENST00000485788.1_3'UTR|PTER_ENST00000423462.2_Missense_Mutation_p.S173A	NM_001001484.2|NM_001261838.1|NM_030664.4	NP_001001484.1|NP_001248767.1|NP_109589.2	Q96BW5	PTER_HUMAN	phosphotriesterase related	173					catabolic process		hydrolase activity, acting on ester bonds|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)	15						AATTGGTTGCTCCTGGCCTTT	0.478													7	98					0	0	1	0	0	G	16528435	T	G	16528435	3	3	81	1	0	0	0	0	1	0	0	0	12788	1551	54	5	523	5	PTER	10	16528435	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	626180	16528435	119006312	7720	11336											
CUBN	8029	broad.mit.edu	37	10	16877108	16877108	+	Missense_Mutation	SNP	C	C	T	rs145872906	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:16877108C>T	ENST00000377833.4	-	64	10332	c.10267G>A	c.(10267-10269)Gtt>Att	p.V3423I		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	3423	CUB 26.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GTGAGAGTAACGGTGCAATCC	0.453													27	58					0	0	1	0	0	T	16877108	C	T	16877108	3	4	81	1	0	0	0	0	1	0	0	0	4074	536	19	1	620	1	CUBN	10	16877108	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	348673	16877108	118657639	7721	11337											
CUBN	8029	broad.mit.edu	37	10	16942837	16942837	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:16942837C>T	ENST00000377833.4	-	53	8262	c.8197G>A	c.(8197-8199)Gac>Aac	p.D2733N		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	2733	CUB 20.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	ATATCAAAGTCACTAAATGTG	0.403													6	15					0	0	1	0	0	T	16942837	C	T	16942837	3	4	81	1	0	0	0	0	1	0	0	0	4074	826	29	2	2734	2	CUBN	10	16942837	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	65729	16942837	118591910	7722	11338											
CUBN	8029	broad.mit.edu	37	10	17083137	17083137	+	Silent	SNP	C	C	T	rs139281325		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:17083137C>T	ENST00000377833.4	-	27	3977	c.3912G>A	c.(3910-3912)caG>caA	p.Q1304Q		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	1304	CUB 8.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	AGTTGCAATGCTGATTTTCAG	0.393													15	144					0	0	1	0	0	T	17083137	C	T	17083137	2	4	81	1	0	0	0	0	0	0	0	1	4074	796	28	2		2	CUBN	10	17083137	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	140300	17083137	118451610	7723	11339											
CUBN	8029	broad.mit.edu	37	10	17089500	17089500	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:17089500C>T	ENST00000377833.4	-	23	3307	c.3242G>A	c.(3241-3243)aGa>aAa	p.R1081K		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	1081	CUB 6.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TTGGCCAGTTCTCACTGTGAT	0.413													25	31					0	0	1	0	0	T	17089500	C	T	17089500	3	4	81	1	0	0	0	0	1	0	0	0	4074	913	32	2	7809	2	CUBN	10	17089500	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	6363	17089500	118445247	7724	11340											
CUBN	8029	broad.mit.edu	37	10	17107602	17107602	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:17107602C>A	ENST00000377833.4	-	22	3109	c.3044G>T	c.(3043-3045)aGc>aTc	p.S1015I		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	1015	CUB 5.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GTTACCACTGCTTGTGAGAGA	0.413													74	104					9.42754e-34	1.26109e-33	1	1	0	A	17107602	C	A	17107602	3	1	81	1	0	0	0	0	1	0	0	0	4074	797	28	4	8011	4	CUBN	10	17107602	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	18102	17107602	118427145	7725	11341											
CUBN	8029	broad.mit.edu	37	10	17147575	17147575	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:17147575C>A	ENST00000377833.4	-	11	1177		c.e11-1			NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)						cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GGTAAGGAACCTGTTCAGAAA	0.453													9	18					2.17888e-05	2.43576e-05	1	1	0	A	17147575	C	A	17147575	5	1	81	1	0	0	0	0	0	0	1	0	4074	695	24	4	9988	4	CUBN	10	17147575	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	39973	17147575	118387172	7726	11342											
CUBN	8029	broad.mit.edu	37	10	17151674	17151674	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:17151674C>T	ENST00000377833.4	-	10	1141	c.1076G>A	c.(1075-1077)gGc>gAc	p.G359D		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	359	EGF-like 5.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TGGGTGGCAGCCTCCATTACT	0.458													10	27					0	0	1	0	0	T	17151674	C	T	17151674	3	4	81	1	0	0	0	0	1	0	0	0	4074	739	26	2	10027	2	CUBN	10	17151674	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	4099	17151674	118383073	7727	11343											
CUBN	8029	broad.mit.edu	37	10	17164793	17164793	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:17164793C>T	ENST00000377833.4	-	6	659		c.e6+1			NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)						cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	AAAAAAGTTACCTGTAACTTC	0.363													12	9					0	0	1	0	0	T	17164793	C	T	17164793	5	4	81	1	0	0	0	0	0	0	1	0	4074	521	18	2	10525	2	CUBN	10	17164793	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	13119	17164793	118369954	7728	11344											
VIM	7431	broad.mit.edu	37	10	17277273	17277273	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:17277273A>G	ENST00000544301.1	+	7	1527	c.1114A>G	c.(1114-1116)Atg>Gtg	p.M372V	VIM_ENST00000224237.5_Missense_Mutation_p.M372V	NM_003380.3	NP_003371.2	P08670	VIME_HUMAN	vimentin	372	Coil 2.|Rod.				cellular component disassembly involved in apoptosis|cellular component movement|interspecies interaction between organisms|muscle filament sliding	cytosol|intermediate filament	protein C-terminus binding|structural constituent of cytoskeleton			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GATTCAGAATATGAAGGAGGA	0.493													17	52					0	0	1	0	0	G	17277273	A	G	17277273	3	3	81	1	0	0	0	0	1	0	0	0	17226	449	16	3	1136	3	VIM	10	17277273	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	112480	17277273	118257474	7729	11345											
VIM	7431	broad.mit.edu	37	10	17277379	17277379	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:17277379A>T	ENST00000544301.1	+	7	1633	c.1220A>T	c.(1219-1221)gAg>gTg	p.E407V	VIM_ENST00000224237.5_Missense_Mutation_p.E407V	NM_003380.3	NP_003371.2	P08670	VIME_HUMAN	vimentin	407	Coil 2.|Rod.				cellular component disassembly involved in apoptosis|cellular component movement|interspecies interaction between organisms|muscle filament sliding	cytosol|intermediate filament	protein C-terminus binding|structural constituent of cytoskeleton			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CTGGAAGGCGAGGAGAGCAGG	0.498													7	38					0	0	1	0	0	T	17277379	A	T	17277379	3	4	81	1	0	0	0	0	1	0	0	0	17226	304	11	5	1242	5	VIM	10	17277379	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	106	17277379	118257368	7730	11346											
CACNB2	783	broad.mit.edu	37	10	18807845	18807845	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:18807845G>T	ENST00000396576.2	+	8	1228	c.727G>T	c.(727-729)Gat>Tat	p.D243Y	CACNB2_ENST00000352115.6_Missense_Mutation_p.D274Y|CACNB2_ENST00000377331.2_Missense_Mutation_p.D246Y|CACNB2_ENST00000377319.3_Missense_Mutation_p.D205Y|RP11-499P20.2_ENST00000425669.1_RNA|CACNB2_ENST00000324631.7_Missense_Mutation_p.D298Y|CACNB2_ENST00000377329.4_Missense_Mutation_p.D244Y|CACNB2_ENST00000282343.8_Missense_Mutation_p.D270Y|CACNB2_ENST00000377315.4_Missense_Mutation_p.D250Y|CACNB2_ENST00000377328.1_Intron	NM_000724.3	NP_000715.2	Q08289	CACB2_HUMAN	calcium channel, voltage-dependent, beta 2 subunit	298					axon guidance|neuromuscular junction development	integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2)	31					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	GCAGGTCACAGATATGATGCA	0.333													10	106					0.00010058	0.000110448	1	1	0	T	18807845	G	T	18807845	3	4	81	1	0	0	0	0	1	0	0	0	2571	942	33	4	1236	4	CACNB2	10	18807845	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1530466	18807845	116726902	7731	11347											
CACNB2	783	broad.mit.edu	37	10	18828539	18828539	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:18828539G>T	ENST00000396576.2	+	13	2205	c.1704G>T	c.(1702-1704)aaG>aaT	p.K568N	CACNB2_ENST00000352115.6_Missense_Mutation_p.K599N|CACNB2_ENST00000377331.2_Missense_Mutation_p.K571N|CACNB2_ENST00000377319.3_Missense_Mutation_p.K530N|RP11-499P20.2_ENST00000425669.1_RNA|CACNB2_ENST00000324631.7_Missense_Mutation_p.K623N|CACNB2_ENST00000377329.4_Missense_Mutation_p.K569N|CACNB2_ENST00000282343.8_Missense_Mutation_p.K595N|CACNB2_ENST00000377315.4_Missense_Mutation_p.K575N|CACNB2_ENST00000377328.1_Missense_Mutation_p.K373N	NM_000724.3	NP_000715.2	Q08289	CACB2_HUMAN	calcium channel, voltage-dependent, beta 2 subunit	623					axon guidance|neuromuscular junction development	integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2)	31					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	AGTGCAACAAGCAGCGCAGCC	0.547													22	32					3.73194e-20	4.8702e-20	1	1	0	T	18828539	G	T	18828539	3	4	81	1	0	0	0	0	1	0	0	0	2571	962	34	4	2233	4	CACNB2	10	18828539	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	20694	18828539	116706208	7732	11348											
NEBL	10529	broad.mit.edu	37	10	21074810	21074810	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:21074810C>A	ENST00000377122.4	-	28	3307	c.2911G>T	c.(2911-2913)Gac>Tac	p.D971Y	NEBL_ENST00000417816.2_Missense_Mutation_p.D227Y|NEBL_ENST00000377159.4_Missense_Mutation_p.D193Y	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN	nebulette	971	SH3.				regulation of actin filament length		actin binding|structural constituent of muscle			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						GAGACCTCGTCTTCATCCTGG	0.498													16	32					1.99824e-07	2.33645e-07	1	1	0	A	21074810	C	A	21074810	3	1	81	1	0	0	0	0	1	0	0	0	10350	913	32	4	137	4	NEBL	10	21074810	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2246271	21074810	114459937	7733	11349											
NEBL	10529	broad.mit.edu	37	10	21101818	21101818	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:21101818C>T	ENST00000377122.4	-	24	2794	c.2398G>A	c.(2398-2400)Gtc>Atc	p.V800I	NEBL_ENST00000417816.2_Missense_Mutation_p.V137I|NEBL_ENST00000377159.4_Missense_Mutation_p.V103I	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN	nebulette	800					regulation of actin filament length		actin binding|structural constituent of muscle			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						TCGTCCACGACGGGAGTAAAG	0.458													7	46					0	0	1	0	0	T	21101818	C	T	21101818	3	4	81	1	0	0	0	0	1	0	0	0	10350	536	19	1	666	1	NEBL	10	21101818	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	27008	21101818	114432929	7734	11350											
NEBL	10529	broad.mit.edu	37	10	21120450	21120450	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:21120450G>C	ENST00000377122.4	-	15	1908	c.1512C>G	c.(1510-1512)gaC>gaG	p.D504E	NEBL_ENST00000417816.2_Intron|NEBL_ENST00000377159.4_Intron	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN	nebulette	504					regulation of actin filament length		actin binding|structural constituent of muscle			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						CATCAAGAGTGTCTGTGCTCA	0.418													3	52					0	0	1	0	0	C	21120450	G	C	21120450	3	2	81	1	0	0	0	0	1	0	0	0	10350	1368	48	5	1588	5	NEBL	10	21120450	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	18632	21120450	114414297	7735	11351											
MLLT10	8028	broad.mit.edu	37	10	22002827	22002827	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:22002827C>T	ENST00000377072.3	+	15	2222	c.1874C>T	c.(1873-1875)gCg>gTg	p.A625V	MLLT10_ENST00000446906.2_Missense_Mutation_p.A609V|MLLT10_ENST00000307729.7_Missense_Mutation_p.A609V|MLLT10_ENST00000377059.3_Missense_Mutation_p.A609V	NM_004641.3	NP_004632.1	P55197	AF10_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10	625	DNA-binding.				positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						CAAGTAGGAGCGCTCTCTCCC	0.483			T	"MLL, PICALM, CDK6"	AL								6	57					0	0	1	0	0	T	22002827	C	T	22002827	3	4	81	1	0	0	0	0	1	0	0	0	9674	768	27	1	1928	1	MLLT10	10	22002827	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	882377	22002827	113531920	7736	11352											
PIP4K2A	5305	broad.mit.edu	37	10	22830767	22830767	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:22830767C>T	ENST00000376573.4	-	8	1230	c.1002G>A	c.(1000-1002)ccG>ccA	p.P334P	PIP4K2A_ENST00000323883.7_Silent_p.P194P|PIP4K2A_ENST00000545335.1_Silent_p.P275P	NM_005028.4	NP_005019.2	P48426	PI42A_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type II, alpha	334	PIPK.						1-phosphatidylinositol-4-phosphate 5-kinase activity|1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding			endometrium(4)|kidney(13)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	29						CGTCGATGTTCGGATCGAACT	0.537													23	33					0	0	1	0	0	T	22830767	C	T	22830767	2	4	81	1	0	0	0	0	0	0	0	1	11984	871	31	1		1	PIP4K2A	10	22830767	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	827940	22830767	112703980	7737	11353											
PIP4K2A	5305	broad.mit.edu	37	10	22839649	22839649	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:22839649T>G	ENST00000376573.4	-	7	959	c.731A>C	c.(730-732)aAg>aCg	p.K244T	PIP4K2A_ENST00000323883.7_Missense_Mutation_p.K104T|PIP4K2A_ENST00000545335.1_Missense_Mutation_p.K185T	NM_005028.4	NP_005019.2	P48426	PI42A_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type II, alpha	244	PIPK.						1-phosphatidylinositol-4-phosphate 5-kinase activity|1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding			endometrium(4)|kidney(13)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	29						AATATAAATCTTTTGGCCCTC	0.363											OREG0020068	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	17	126					0	0	1	0	0	G	22839649	T	G	22839649	3	3	81	1	0	0	0	0	1	0	0	0	11984	1609	56	5	505	5	PIP4K2A	10	22839649	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	8882	22839649	112695098	7738	11354											
MSRB2	22921	broad.mit.edu	37	10	23408358	23408358	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:23408358G>A	ENST00000376510.3	+	4	525	c.422G>A	c.(421-423)cGc>cAc	p.R141H	MSRB2_ENST00000468633.1_3'UTR	NM_012228.3	NP_036360.3	Q9Y3D2	MSRB2_HUMAN	methionine sulfoxide reductase B2	141					protein repair	mitochondrion	peptide-methionine-(S)-S-oxide reductase activity|protein-methionine-R-oxide reductase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(1)	9					L-Methionine(DB00134)	GGATCAGCTCGCACAGAGGTT	0.512													22	29					0	0	1	0	0	A	23408358	G	A	23408358	3	1	81	1	0	0	0	0	1	0	0	0	9936	1087	38	1	436	1	MSRB2	10	23408358	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	568709	23408358	112126389	7739	11355											
PTF1A	256297	broad.mit.edu	37	10	23482768	23482768	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:23482768G>T	ENST00000376504.3	+	2	1124	c.920G>T	c.(919-921)aGa>aTa	p.R307I		NM_178161.2	NP_835455.1	Q7RTS3	PTF1A_HUMAN	pancreas specific transcription factor, 1a	307					endocrine pancreas development|exocrine pancreas development|regulation of transcription, DNA-dependent|tissue development|transcription, DNA-dependent	cytoplasm|transcription factor complex				endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(1)	7						GAGGACCCCAGAAAACTCAAC	0.453													55	85					1.53716e-24	2.02983e-24	1	1	0	T	23482768	G	T	23482768	3	4	81	1	0	0	0	0	1	0	0	0	12789	942	33	4	926	4	PTF1A	10	23482768	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	74410	23482768	112051979	7740	11356											
KIAA1217	56243	broad.mit.edu	37	10	24762394	24762394	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:24762394C>A	ENST00000376451.2	+	2	498	c.238C>A	c.(238-240)Cca>Aca	p.P80T	KIAA1217_ENST00000376454.3_Missense_Mutation_p.P362T|KIAA1217_ENST00000307544.6_Missense_Mutation_p.P80T|KIAA1217_ENST00000376462.1_Missense_Mutation_p.P282T|KIAA1217_ENST00000376452.3_Missense_Mutation_p.P362T|KIAA1217_ENST00000430453.2_Missense_Mutation_p.P283T|KIAA1217_ENST00000458595.1_Missense_Mutation_p.P362T|KIAA1217_ENST00000396446.1_Missense_Mutation_p.P80T|KIAA1217_ENST00000396445.1_Missense_Mutation_p.P80T			Q5T5P2	SKT_HUMAN	KIAA1217	362					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						ACCCATCTCTCCAAGCCCAAG	0.502													41	66					8.01111e-26	1.06104e-25	1	1	0	A	24762394	C	A	24762394	3	1	81	1	0	0	0	0	1	0	0	0	8258	855	30	5	1106	5	KIAA1217	10	24762394	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1279626	24762394	110772353	7741	11357											
KIAA1217	56243	broad.mit.edu	37	10	24790356	24790356	+	Missense_Mutation	SNP	C	C	T	rs141937477		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:24790356C>T	ENST00000376451.2	+	4	1192	c.932C>T	c.(931-933)aCg>aTg	p.T311M	KIAA1217_ENST00000376454.3_Missense_Mutation_p.T628M|KIAA1217_ENST00000307544.6_Missense_Mutation_p.T311M|KIAA1217_ENST00000376462.1_Missense_Mutation_p.T548M|KIAA1217_ENST00000376452.3_Missense_Mutation_p.T593M|KIAA1217_ENST00000430453.2_Missense_Mutation_p.T514M|KIAA1217_ENST00000458595.1_Missense_Mutation_p.T593M|KIAA1217_ENST00000396446.1_Missense_Mutation_p.T311M|KIAA1217_ENST00000396445.1_Missense_Mutation_p.T311M			Q5T5P2	SKT_HUMAN	KIAA1217	628	Pro-rich.				embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						CTGGAGTCCACGGTGCCTCCC	0.582													23	33					0	0	1	0	0	T	24790356	C	T	24790356	3	4	81	1	0	0	0	0	1	0	0	0	8258	536	19	1	1917	1	KIAA1217	10	24790356	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	27962	24790356	110744391	7742	11358											
KIAA1217	56243	broad.mit.edu	37	10	24809090	24809090	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:24809090C>A	ENST00000376451.2	+	6	1525	c.1265C>A	c.(1264-1266)tCc>tAc	p.S422Y	KIAA1217_ENST00000376454.3_Missense_Mutation_p.S739Y|KIAA1217_ENST00000307544.6_Missense_Mutation_p.S422Y|KIAA1217_ENST00000376462.1_Missense_Mutation_p.S659Y|KIAA1217_ENST00000376452.3_Missense_Mutation_p.S704Y|KIAA1217_ENST00000430453.2_Intron|KIAA1217_ENST00000458595.1_Missense_Mutation_p.S704Y|KIAA1217_ENST00000396446.1_Missense_Mutation_p.S422Y|KIAA1217_ENST00000396445.1_Missense_Mutation_p.S422Y			Q5T5P2	SKT_HUMAN	KIAA1217	739					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						AAGAAGGACTCCACGGCAGCC	0.542													56	84					6.83704e-37	9.16596e-37	1	1	0	A	24809090	C	A	24809090	3	1	81	1	0	0	0	0	1	0	0	0	8258	855	30	5	2258	5	KIAA1217	10	24809090	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	18734	24809090	110725657	7743	11359											
KIAA1217	56243	broad.mit.edu	37	10	24822049	24822049	+	Nonsense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:24822049T>A	ENST00000376451.2	+	11	2606	c.2346T>A	c.(2344-2346)taT>taA	p.Y782*	KIAA1217_ENST00000376454.3_Nonsense_Mutation_p.Y1099*|KIAA1217_ENST00000307544.6_Nonsense_Mutation_p.Y782*|KIAA1217_ENST00000376462.1_Nonsense_Mutation_p.Y1019*|KIAA1217_ENST00000376452.3_Nonsense_Mutation_p.Y1063*|KIAA1217_ENST00000458595.1_Nonsense_Mutation_p.Y1064*|KIAA1217_ENST00000396446.1_Nonsense_Mutation_p.Y782*|KIAA1217_ENST00000396445.1_Nonsense_Mutation_p.Y782*			Q5T5P2	SKT_HUMAN	KIAA1217	1099					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						CTACAAAATATCCAGCAGAGG	0.512													9	56					0	0	1	0	0	A	24822049	T	A	24822049	4	1	81	1	0	0	0	0	0	1	0	0	8258	1442	50	4	3359	4	KIAA1217	10	24822049	Nonsense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	12959	24822049	110712698	7744	11360											
KIAA1217	56243	broad.mit.edu	37	10	24825761	24825761	+	Missense_Mutation	SNP	G	G	T	rs145406190		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:24825761G>T	ENST00000376451.2	+	12	2782	c.2522G>T	c.(2521-2523)cGg>cTg	p.R841L	KIAA1217_ENST00000376454.3_Missense_Mutation_p.R1158L|KIAA1217_ENST00000307544.6_Missense_Mutation_p.R841L|KIAA1217_ENST00000376462.1_Intron|KIAA1217_ENST00000376452.3_Missense_Mutation_p.R1122L|KIAA1217_ENST00000458595.1_Missense_Mutation_p.R1123L|KIAA1217_ENST00000396446.1_Intron|KIAA1217_ENST00000396445.1_Missense_Mutation_p.R841L			Q5T5P2	SKT_HUMAN	KIAA1217	1158					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						GAGCCATCCCGGGCTGACAGT	0.488													12	81					1.5842e-08	1.88841e-08	1	1	0	T	24825761	G	T	24825761	3	4	81	1	0	0	0	0	1	0	0	0	8258	1116	39	5	3539	5	KIAA1217	10	24825761	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	3712	24825761	110708986	7745	11361											
KIAA1217	56243	broad.mit.edu	37	10	24833163	24833163	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:24833163C>T	ENST00000376451.2	+	14	4273	c.4013C>T	c.(4012-4014)aCt>aTt	p.T1338I	KIAA1217_ENST00000376454.3_Missense_Mutation_p.T1655I|KIAA1217_ENST00000307544.6_Intron|KIAA1217_ENST00000376462.1_Intron|KIAA1217_ENST00000376452.3_Intron|KIAA1217_ENST00000458595.1_Intron|KIAA1217_ENST00000396446.1_Intron|KIAA1217_ENST00000396445.1_Intron			Q5T5P2	SKT_HUMAN	KIAA1217	1655					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						ATTTCAAGAACTGATGAAATT	0.453													24	47					0	0	1	0	0	T	24833163	C	T	24833163	3	4	81	1	0	0	0	0	1	0	0	0	8258	565	20	2	5038	2	KIAA1217	10	24833163	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	7402	24833163	110701584	7746	11362											
KIAA1217	56243	broad.mit.edu	37	10	24835130	24835130	+	Silent	SNP	C	C	T	rs138680991		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:24835130C>T	ENST00000376454.3	+	21	5739	c.5709C>T	c.(5707-5709)tcC>tcT	p.S1903S	KIAA1217_ENST00000376451.2_3'UTR|KIAA1217_ENST00000376462.1_Silent_p.S1224S|KIAA1217_ENST00000376452.3_Silent_p.S1334S|KIAA1217_ENST00000458595.1_Silent_p.S1309S|KIAA1217_ENST00000396445.1_3'UTR	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217	1903	Ser-rich.				embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						ctgcctcctccgtctcACTGA	0.542													25	18					0	0	1	0	0	T	24835130	C	T	24835130	2	4	81	1	0	0	0	0	0	0	0	1	8258	639	23	1		1	KIAA1217	10	24835130	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1967	24835130	110699617	7747	11363											
ARHGAP21	57584	broad.mit.edu	37	10	24886401	24886401	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:24886401C>A	ENST00000396432.2	-	16	3795	c.3309G>T	c.(3307-3309)gaG>gaT	p.E1103D	ARHGAP21_ENST00000493154.1_5'UTR|ARHGAP21_ENST00000320481.6_Missense_Mutation_p.E890D	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	1102					signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						TCCTTTCCGACTCTTCCTTCG	0.398													16	116					6.49762e-13	8.15126e-13	1	1	0	A	24886401	C	A	24886401	3	1	81	1	0	0	0	0	1	0	0	0	868	564	20	4	2611	4	ARHGAP21	10	24886401	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	51271	24886401	110648346	7748	11364											
ARHGAP21	57584	broad.mit.edu	37	10	24908579	24908579	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:24908579G>T	ENST00000396432.2	-	9	2731	c.2245C>A	c.(2245-2247)Cag>Aag	p.Q749K	ARHGAP21_ENST00000320481.6_Missense_Mutation_p.Q536K	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	748					signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						CTTAAAGGCTGCGGTGTCTGG	0.473													11	84					2.80697e-09	3.37799e-09	1	1	0	T	24908579	G	T	24908579	3	4	81	1	0	0	0	0	1	0	0	0	868	1328	46	5	3703	5	ARHGAP21	10	24908579	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	22178	24908579	110626168	7749	11365											
THNSL1	79896	broad.mit.edu	37	10	25312394	25312394	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:25312394G>A	ENST00000524413.1	+	3	589	c.242G>A	c.(241-243)tGt>tAt	p.C81Y	THNSL1_ENST00000376356.4_Missense_Mutation_p.C81Y			Q8IYQ7	THNS1_HUMAN	threonine synthase-like 1 (S. cerevisiae)	81					threonine biosynthetic process		ATP binding|pyridoxal phosphate binding|shikimate kinase activity|threonine synthase activity			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(5)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	28					L-Threonine(DB00156)|Pyridoxal Phosphate(DB00114)	AAACTAGGTTGTTGTGTCATA	0.388													32	80					0	0	1	0	0	A	25312394	G	A	25312394	3	1	81	1	0	0	0	0	1	0	0	0	15922	1377	48	2	244	2	THNSL1	10	25312394	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	403815	25312394	110222353	7750	11366											
GPR158	57512	broad.mit.edu	37	10	25464695	25464695	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:25464695G>A	ENST00000376351.3	+	1	705	c.346G>A	c.(346-348)Gcc>Acc	p.A116T	GPR158-AS1_ENST00000449643.1_RNA	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	116						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						GCCAGCCCTGGCCAGCGCGCA	0.657													28	39					0	0	1	0	0	A	25464695	G	A	25464695	3	1	81	1	0	0	0	0	1	0	0	0	6703	1203	42	2	348	2	GPR158	10	25464695	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	152301	25464695	110070052	7751	11367											
GPR158	57512	broad.mit.edu	37	10	25510037	25510037	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:25510037G>T	ENST00000376351.3	+	2	1318	c.959G>T	c.(958-960)aGt>aTt	p.S320I		NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	320						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						CAATGCTCAAGTGATGGCTGG	0.343													7	56					5.18039e-06	5.88187e-06	1	1	0	T	25510037	G	T	25510037	3	4	81	1	0	0	0	0	1	0	0	0	6703	1029	36	4	965	4	GPR158	10	25510037	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	45342	25510037	110024710	7752	11368											
GPR158	57512	broad.mit.edu	37	10	25877997	25877997	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:25877997G>A	ENST00000376351.3	+	8	2174	c.1815G>A	c.(1813-1815)tcG>tcA	p.S605S		NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	605						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						CAGTCCCATCGGCATTCCATG	0.418													10	45					0	0	1	0	0	A	25877997	G	A	25877997	2	1	81	1	0	0	0	0	0	0	0	1	6703	1103	39	1		1	GPR158	10	25877997	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	367960	25877997	109656750	7753	11369											
GPR158	57512	broad.mit.edu	37	10	25878043	25878043	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:25878043C>T	ENST00000376351.3	+	8	2220	c.1861C>T	c.(1861-1863)Ctc>Ttc	p.L621F		NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	621				ELIISAIFHTI -> SWIVNSMNSHF (in Ref. 3).		integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						TCACAATGAGCTCATCATCTC	0.398													16	42					0	0	1	0	0	T	25878043	C	T	25878043	3	4	81	1	0	0	0	0	1	0	0	0	6703	797	28	2	1891	2	GPR158	10	25878043	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	46	25878043	109656704	7754	11370											
GPR158	57512	broad.mit.edu	37	10	25887652	25887652	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:25887652G>T	ENST00000376351.3	+	11	3456	c.3097G>T	c.(3097-3099)Gct>Tct	p.A1033S	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	1033						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						ATCTATTGTGGCTTCTGAAAT	0.458													6	87					2.7689e-08	3.2887e-08	1	1	0	T	25887652	G	T	25887652	3	4	81	1	0	0	0	0	1	0	0	0	6703	1203	42	5	3139	5	GPR158	10	25887652	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	9609	25887652	109647095	7755	11371											
MYO3A	53904	broad.mit.edu	37	10	26443734	26443734	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:26443734G>A	ENST00000265944.5	+	25	2941	c.2775G>A	c.(2773-2775)acG>acA	p.T925T	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	925	Myosin head-like.				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						AAACACAAACGGTTGCATCAT	0.403													9	14					0	0	1	0	0	A	26443734	G	A	26443734	2	1	81	1	0	0	0	0	0	0	0	1	10124	1103	39	1		1	MYO3A	10	26443734	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	556082	26443734	109091013	7756	11372											
APBB1IP	54518	broad.mit.edu	37	10	26825126	26825126	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:26825126G>A	ENST00000376236.4	+	10	1479	c.1024G>A	c.(1024-1026)Gta>Ata	p.V342I		NM_019043.3	NP_061916.3	Q7Z5R6	AB1IP_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein	342	PH.				blood coagulation|signal transduction	cytoskeleton|cytosol|focal adhesion|lamellipodium				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(27)|skin(7)|upper_aerodigestive_tract(1)	45						AATTTATTATGTACCCAAAGG	0.343													68	104					0	0	1	0	0	A	26825126	G	A	26825126	3	1	81	1	0	0	0	0	1	0	0	0	756	1377	48	2	1054	2	APBB1IP	10	26825126	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	381392	26825126	108709621	7757	11373											
PDSS1	23590	broad.mit.edu	37	10	26998656	26998656	+	Silent	SNP	G	G	A	rs149274703	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:26998656G>A	ENST00000376215.5	+	5	479	c.426G>A	c.(424-426)gcG>gcA	p.A142A	PDSS1_ENST00000376203.5_Silent_p.A142A	NM_014317.3	NP_055132.2	Q5T2R2	DPS1_HUMAN	prenyl (decaprenyl) diphosphate synthase, subunit 1	142				A -> V (in Ref. 1; AAD28559).	isoprenoid biosynthetic process|ubiquinone biosynthetic process	mitochondrion	metal ion binding|protein heterodimerization activity			autonomic_ganglia(1)|endometrium(1)|kidney(7)|large_intestine(6)|lung(5)|prostate(1)	21						TTATTGTGGCGCTAATGGCCC	0.398													58	77					0	0	1	0	0	A	26998656	G	A	26998656	2	1	81	1	0	0	0	0	0	0	0	1	11740	1074	38	1		1	PDSS1	10	26998656	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	173530	26998656	108536091	7758	11374											
YME1L1	10730	broad.mit.edu	37	10	27431370	27431370	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:27431370G>A	ENST00000326799.3	-	5	695	c.547C>T	c.(547-549)Cga>Tga	p.R183*	YME1L1_ENST00000376016.3_Nonsense_Mutation_p.R126*|YME1L1_ENST00000375972.3_Intron	NM_139312.2	NP_647473.1	Q96TA2	YMEL1_HUMAN	YME1-like 1 ATPase	183					protein catabolic process|proteolysis	membrane|mitochondrion	ATP binding|metal ion binding|metalloendopeptidase activity|nucleoside-triphosphatase activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23						GAATGATGTCGATACAAGCAA	0.308													67	86					0	0	1	0	0	A	27431370	G	A	27431370	4	1	81	1	0	0	0	0	0	1	0	0	17547	1066	37	1	1838	1	YME1L1	10	27431370	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	432714	27431370	108103377	7759	11375											
MASTL	84930	broad.mit.edu	37	10	27459940	27459940	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:27459940G>A	ENST00000375946.4	+	8	2655	c.2052G>A	c.(2050-2052)tcG>tcA	p.S684S	MASTL_ENST00000342386.6_Silent_p.S684S|MASTL_ENST00000375940.4_Silent_p.S684S|MASTL_ENST00000477034.1_3'UTR	NM_001172303.1|NM_032844.3	NP_001165774.1|NP_116233.2	Q96GX5	GWL_HUMAN	microtubule associated serine/threonine kinase-like	684	Protein kinase.				cell division|G2/M transition of mitotic cell cycle|mitosis|negative regulation of protein phosphatase type 2A activity|regulation of cell cycle|response to DNA damage stimulus	centrosome|cleavage furrow|nucleus	ATP binding|protein phosphatase 2A binding|protein serine/threonine kinase activity			breast(3)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TGGATATTTCGTGTGCCTACA	0.358													58	81					0	0	1	0	0	A	27459940	G	A	27459940	2	1	81	1	0	0	0	0	0	0	0	1	9378	1132	40	1		1	MASTL	10	27459940	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	28570	27459940	108074807	7760	11376											
RAB18	22931	broad.mit.edu	37	10	27822776	27822776	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:27822776C>T	ENST00000356940.6	+	5	474	c.372C>T	c.(370-372)atC>atT	p.I124I	RAB18_ENST00000535776.1_Intron|RAB18_ENST00000375802.3_Silent_p.I79I|RAB18_ENST00000465772.1_3'UTR	NM_001256410.1|NM_001256415.1|NM_021252.4	NP_001243339.1|NP_001243344.1|NP_067075.1	Q9NP72	RAB18_HUMAN	RAB18, member RAS oncogene family	124					endocytosis|protein transport|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction	intracellular|plasma membrane	ATP binding|GTP binding|GTPase activity|transcription factor binding			kidney(1)|large_intestine(1)|lung(1)	3						GAAATAAAATCGATAAGGTAA	0.313													54	63					0	0	1	0	0	T	27822776	C	T	27822776	2	4	81	1	0	0	0	0	0	0	0	1	12955	874	31	1		1	RAB18	10	27822776	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	362836	27822776	107711971	7761	11377											
MKX	283078	broad.mit.edu	37	10	27964176	27964176	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:27964176C>T	ENST00000375790.5	-	7	1473	c.1041G>A	c.(1039-1041)ccG>ccA	p.P347P	MKX_ENST00000419761.1_Silent_p.P347P			Q8IYA7	MKX_HUMAN	mohawk homeobox	347					muscle organ development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2)	16						GCTGCACCAGCGGCACTTTGA	0.463													32	48					0	0	1	0	0	T	27964176	C	T	27964176	2	4	81	1	0	0	0	0	0	0	0	1	9658	755	27	1		1	MKX	10	27964176	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	141400	27964176	107570571	7762	11378											
ARMC4	55130	broad.mit.edu	37	10	28151500	28151500	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:28151500T>C	ENST00000305242.5	-	18	2754	c.2662A>G	c.(2662-2664)Aat>Gat	p.N888D	ARMC4_ENST00000537576.1_Missense_Mutation_p.N580D|ARMC4_ENST00000545014.1_Missense_Mutation_p.N413D	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	888							binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						TTCAGTAAATTGACAATAAGT	0.343													25	34					0	0	1	0	0	C	28151500	T	C	28151500	3	2	81	1	0	0	0	0	1	0	0	0	952	1812	63	3	484	3	ARMC4	10	28151500	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	187324	28151500	107383247	7763	11379											
ARMC4	55130	broad.mit.edu	37	10	28196637	28196637	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:28196637C>T	ENST00000305242.5	-	17	2657	c.2565G>A	c.(2563-2565)aaG>aaA	p.K855K	ARMC4_ENST00000537576.1_Silent_p.K547K|ARMC4_ENST00000545014.1_Silent_p.K380K	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	855							binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						CTGCGCTGGCCTTCACGTCTG	0.433													24	44					0	0	1	0	0	T	28196637	C	T	28196637	2	4	81	1	0	0	0	0	0	0	0	1	952	680	24	2		2	ARMC4	10	28196637	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	45137	28196637	107338110	7764	11380											
ARMC4	55130	broad.mit.edu	37	10	28233780	28233780	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:28233780T>C	ENST00000305242.5	-	11	1590	c.1498A>G	c.(1498-1500)Ata>Gta	p.I500V	ARMC4_ENST00000480504.1_5'UTR|ARMC4_ENST00000537576.1_Missense_Mutation_p.I192V|ARMC4_ENST00000545014.1_Missense_Mutation_p.I25V	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	500							binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						AGCAAATTTATCAGCACTTCC	0.478													7	50					0	0	1	0	0	C	28233780	T	C	28233780	3	2	81	1	0	0	0	0	1	0	0	0	952	1435	50	3	1676	3	ARMC4	10	28233780	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	37143	28233780	107300967	7765	11381											
ARMC4	55130	broad.mit.edu	37	10	28260120	28260120	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:28260120C>A	ENST00000305242.5	-	8	1151	c.1059G>T	c.(1057-1059)aaG>aaT	p.K353N	ARMC4_ENST00000239715.3_Missense_Mutation_p.K210N|ARMC4_ENST00000480504.1_5'UTR|ARMC4_ENST00000537576.1_Missense_Mutation_p.K45N|ARMC4_ENST00000545014.1_Intron	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	353							binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						TAATTTGGTTCTTCTCCAGTG	0.423													31	62					1.80694e-10	2.21318e-10	1	1	0	A	28260120	C	A	28260120	3	1	81	1	0	0	0	0	1	0	0	0	952	912	32	4	2127	4	ARMC4	10	28260120	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	26340	28260120	107274627	7766	11382											
MPP7	143098	broad.mit.edu	37	10	28348654	28348654	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:28348654C>A	ENST00000337532.5	-	15	1499	c.1223G>T	c.(1222-1224)aGa>aTa	p.R408I	MPP7_ENST00000445954.2_Missense_Mutation_p.R283I|MPP7_ENST00000375719.3_Missense_Mutation_p.R408I|MPP7_ENST00000375732.1_Missense_Mutation_p.R408I|MPP7_ENST00000540098.1_Missense_Mutation_p.R408I	NM_173496.3	NP_775767.2	Q5T2T1	MPP7_HUMAN	membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7)	408	Guanylate kinase-like.				establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly	MPP7-DLG1-LIN7 complex|tight junction	protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity	p.R408I(1)		autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	22						CTCCTGGCTTCTTCTTGCTCT	0.338													6	59					0.000157383	0.000171784	1	1	0	A	28348654	C	A	28348654	3	1	81	1	0	0	0	0	1	0	0	0	9788	913	32	4	523	4	MPP7	10	28348654	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	88534	28348654	107186093	7767	11383											
MPP7	143098	broad.mit.edu	37	10	28358723	28358723	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:28358723C>T	ENST00000337532.5	-	14	1458	c.1182G>A	c.(1180-1182)caG>caA	p.Q394Q	MPP7_ENST00000445954.2_Silent_p.Q269Q|MPP7_ENST00000375719.3_Silent_p.Q394Q|MPP7_ENST00000375732.1_Silent_p.Q394Q|MPP7_ENST00000540098.1_Silent_p.Q394Q	NM_173496.3	NP_775767.2	Q5T2T1	MPP7_HUMAN	membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7)	394	Guanylate kinase-like.				establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly	MPP7-DLG1-LIN7 complex|tight junction	protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	22						CGCCATAGTGCTGGGTGTCAC	0.398													11	20					0	0	1	0	0	T	28358723	C	T	28358723	2	4	81	1	0	0	0	0	0	0	0	1	9788	796	28	2		2	MPP7	10	28358723	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	10069	28358723	107176024	7768	11384											
WAC	51322	broad.mit.edu	37	10	28872387	28872387	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:28872387T>C	ENST00000375664.4	+	4	808	c.199T>C	c.(199-201)Tca>Cca	p.S67P	WAC_ENST00000428935.1_Missense_Mutation_p.S67P|WAC_ENST00000354911.4_Missense_Mutation_p.S112P|WAC_ENST00000347934.4_Missense_Mutation_p.S112P|WAC_ENST00000375646.1_Missense_Mutation_p.S67P			Q9BTA9	WAC_HUMAN	WW domain containing adaptor with coiled-coil						cell cycle checkpoint|histone H2B conserved C-terminal lysine ubiquitination|histone monoubiquitination|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nuclear speck	chromatin binding|RNA polymerase II core binding			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|urinary_tract(1)	32						TAGTTCAAATTCACATTCTTC	0.318													57	106					0	0	1	0	0	C	28872387	T	C	28872387	3	2	81	1	0	0	0	0	1	0	0	0	17307	1783	62	3	348	3	WAC	10	28872387	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	513664	28872387	106662360	7769	11385											
WAC	51322	broad.mit.edu	37	10	28899640	28899640	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:28899640C>T	ENST00000375664.4	+	9	1652	c.1043C>T	c.(1042-1044)gCt>gTt	p.A348V	WAC_ENST00000428935.1_Missense_Mutation_p.A348V|WAC_ENST00000354911.4_Missense_Mutation_p.A393V|WAC_ENST00000347934.4_Missense_Mutation_p.A290V|WAC_ENST00000375646.1_Splice_Site_p.A241V			Q9BTA9	WAC_HUMAN	WW domain containing adaptor with coiled-coil						cell cycle checkpoint|histone H2B conserved C-terminal lysine ubiquitination|histone monoubiquitination|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nuclear speck	chromatin binding|RNA polymerase II core binding			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|urinary_tract(1)	32						CTTACAGCAGCTGTGACACAA	0.383													46	84					0	0	1	0	0	T	28899640	C	T	28899640	3	4	81	1	0	0	0	0	1	0	0	0	17307	797	28	2	1212	2	WAC	10	28899640	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	27253	28899640	106635107	7770	11386											
WAC	51322	broad.mit.edu	37	10	28903584	28903584	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:28903584C>A	ENST00000375664.4	+	11	2000	c.1391C>A	c.(1390-1392)cCt>cAt	p.P464H	WAC_ENST00000354911.4_Missense_Mutation_p.P509H|WAC_ENST00000347934.4_Missense_Mutation_p.P406H|WAC_ENST00000375646.1_Missense_Mutation_p.P357H			Q9BTA9	WAC_HUMAN	WW domain containing adaptor with coiled-coil						cell cycle checkpoint|histone H2B conserved C-terminal lysine ubiquitination|histone monoubiquitination|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nuclear speck	chromatin binding|RNA polymerase II core binding			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|urinary_tract(1)	32						GGTCATGAACCTGTCTCTCCT	0.423													5	56					0.00116845	0.00124301	1	1	0	A	28903584	C	A	28903584	3	1	81	1	0	0	0	0	1	0	0	0	17307	681	24	4	1568	4	WAC	10	28903584	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3944	28903584	106631163	7771	11387											
LYZL1	84569	broad.mit.edu	37	10	29599062	29599062	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:29599062G>T	ENST00000375500.3	+	4	517	c.460G>T	c.(460-462)Gat>Tat	p.D154Y		NM_032517.4	NP_115906.3	Q6UWQ5	LYZL1_HUMAN	lysozyme-like 1	108					cell wall macromolecule catabolic process	extracellular region	lysozyme activity			central_nervous_system(1)|cervix(2)|large_intestine(2)|lung(5)|skin(1)	11		Breast(68;0.203)				TGACCTCACAGATGCAATTAT	0.428													26	49					1.08312e-15	1.38358e-15	1	1	0	T	29599062	G	T	29599062	3	4	81	1	0	0	0	0	1	0	0	0	9177	942	33	4	474	4	LYZL1	10	29599062	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	695478	29599062	105935685	7772	11388											
SVIL	6840	broad.mit.edu	37	10	29770598	29770598	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:29770598G>A	ENST00000375398.2	-	30	5464	c.5015C>T	c.(5014-5016)aCg>aTg	p.T1672M	PTCHD3P1_ENST00000413405.1_RNA|SVIL_ENST00000535393.1_Missense_Mutation_p.T586M|PTCHD3P1_ENST00000446807.1_RNA|SVIL_ENST00000355867.4_Missense_Mutation_p.T1672M|PTCHD3P1_ENST00000423223.1_RNA|PTCHD3P1_ENST00000414457.1_RNA|SVIL_ENST00000538146.1_Missense_Mutation_p.T464M|SVIL_ENST00000375400.3_Missense_Mutation_p.T1246M			O95425	SVIL_HUMAN	supervillin	1672	Interaction with NEB.				cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				GAACAAAATCGTCTCATTGTG	0.522													92	245					0	0	1	0	0	A	29770598	G	A	29770598	3	1	81	1	0	0	0	0	1	0	0	0	15477	1145	40	1	1673	1	SVIL	10	29770598	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	171536	29770598	105764149	7773	11389											
SVIL	6840	broad.mit.edu	37	10	29801769	29801769	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:29801769G>A	ENST00000375398.2	-	19	3860	c.3411C>T	c.(3409-3411)agC>agT	p.S1137S	SVIL_ENST00000535393.1_Silent_p.S35S|SVIL_ENST00000355867.4_Silent_p.S1137S|SVIL_ENST00000375400.3_Silent_p.S711S			O95425	SVIL_HUMAN	supervillin	1137					cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				CTTCCTCCCCGCTTTTCTTCA	0.552											OREG0020097	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	38	47					0	0	1	0	0	A	29801769	G	A	29801769	2	1	81	1	0	0	0	0	0	0	0	1	15477	1078	38	1		1	SVIL	10	29801769	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	31171	29801769	105732978	7774	11390											
SVIL	6840	broad.mit.edu	37	10	29811375	29811375	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:29811375A>G	ENST00000375398.2	-	18	3802	c.3353T>C	c.(3352-3354)cTt>cCt	p.L1118P	SVIL_ENST00000535393.1_Missense_Mutation_p.L16P|SVIL_ENST00000355867.4_Missense_Mutation_p.L1118P|SVIL_ENST00000375400.3_Missense_Mutation_p.L692P			O95425	SVIL_HUMAN	supervillin	1118					cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				GGGTGAGTCAAGAAGGCCCTC	0.488													20	28					0	0	1	0	0	G	29811375	A	G	29811375	3	3	81	1	0	0	0	0	1	0	0	0	15477	72	3	3	3383	3	SVIL	10	29811375	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	9606	29811375	105723372	7775	11391											
SVIL	6840	broad.mit.edu	37	10	29818634	29818634	+	Splice_Site	SNP	G	G	A	rs146446036	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:29818634G>A	ENST00000375398.2	-	14	2695	c.2246C>T	c.(2245-2247)aCt>aTt	p.T749I	SVIL_ENST00000355867.4_Splice_Site_p.T749I|SVIL_ENST00000375400.3_Splice_Site_p.T355I			O95425	SVIL_HUMAN	supervillin	749					cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				GGGCACTTACGTGGCTGCGAT	0.493													6	28					0	0	1	0	0	A	29818634	G	A	29818634	5	1	81	1	0	0	0	0	0	0	1	0	15477	1159	40	1	4506	1	SVIL	10	29818634	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	7259	29818634	105716113	7776	11392											
KIAA1462	57608	broad.mit.edu	37	10	30316836	30316836	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:30316836G>T	ENST00000375377.1	-	3	2342	c.2241C>A	c.(2239-2241)gcC>gcA	p.A747A		NM_020848.2	NP_065899.1	Q9P266	K1462_HUMAN	KIAA1462	747										breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						TCAGGTTACGGGCACTTGGCC	0.572													5	40					5.18039e-06	5.88187e-06	1	1	0	T	30316836	G	T	30316836	2	4	81	1	0	0	0	0	0	0	0	1	8276	1219	43	5		5	KIAA1462	10	30316836	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	498202	30316836	105217911	7777	11393											
KIAA1462	57608	broad.mit.edu	37	10	30317929	30317929	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:30317929C>A	ENST00000375377.1	-	3	1249	c.1148G>T	c.(1147-1149)aGc>aTc	p.S383I		NM_020848.2	NP_065899.1	Q9P266	K1462_HUMAN	KIAA1462	383	Pro-rich.									breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						AGGCTGACCGCTGGCCCCAGC	0.627													6	110					0.00116845	0.00124301	1	1	0	A	30317929	C	A	30317929	3	1	81	1	0	0	0	0	1	0	0	0	8276	797	28	4	2939	4	KIAA1462	10	30317929	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1093	30317929	105216818	7778	11394											
MTPAP	55149	broad.mit.edu	37	10	30611540	30611540	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:30611540G>T	ENST00000358107.4	-	7	1388	c.1389C>A	c.(1387-1389)gcC>gcA	p.A463A	MTPAP_ENST00000263063.4_Silent_p.A333A|MTPAP_ENST00000488290.1_5'UTR			Q9NVV4	PAPD1_HUMAN	mitochondrial poly(A) polymerase	333	PAP-associated.				cell death|histone mRNA catabolic process|mRNA polyadenylation|transcription, DNA-dependent	mitochondrion	ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|protein homodimerization activity|RNA binding|UTP binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						AACTTGTCAAGGCAATCCTTC	0.373													7	23					0.00198382	0.00209725	1	1	0	T	30611540	G	T	30611540	2	4	81	1	0	0	0	0	0	0	0	1	10004	987	35	4		4	MTPAP	10	30611540	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	293611	30611540	104923207	7779	11395											
MAP3K8	1326	broad.mit.edu	37	10	30739353	30739353	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:30739353C>T	ENST00000263056.1	+	5	1367	c.671C>T	c.(670-672)cCa>cTa	p.P224L	MAP3K8_ENST00000375321.1_Missense_Mutation_p.P224L|MAP3K8_ENST00000542547.1_Missense_Mutation_p.P224L	NM_001244134.1|NM_005204.3	NP_001231063.1|NP_005195.2	P41279	M3K8_HUMAN	mitogen-activated protein kinase kinase kinase 8	224	Protein kinase.				cell cycle|T cell costimulation	cytosol	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		Prostate(175;0.151)				AGCTGTGGACCAATGAGAGAA	0.448													32	43					0	0	1	0	0	T	30739353	C	T	30739353	3	4	81	1	0	0	0	0	1	0	0	0	9306	594	21	2	681	2	MAP3K8	10	30739353	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	127813	30739353	104795394	7780	11396											
MAP3K8	1326	broad.mit.edu	37	10	30747036	30747036	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:30747036C>T	ENST00000263056.1	+	7	1593	c.897C>T	c.(895-897)atC>atT	p.I299I	MAP3K8_ENST00000375321.1_Silent_p.I299I|MAP3K8_ENST00000542547.1_Silent_p.I299I	NM_001244134.1|NM_005204.3	NP_001231063.1|NP_005195.2	P41279	M3K8_HUMAN	mitogen-activated protein kinase kinase kinase 8	299	Protein kinase.				cell cycle|T cell costimulation	cytosol	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		Prostate(175;0.151)				CAGAGGTCATCCTGTGCAGGG	0.537													12	32					0	0	1	0	0	T	30747036	C	T	30747036	2	4	81	1	0	0	0	0	0	0	0	1	9306	845	30	2		2	MAP3K8	10	30747036	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	7683	30747036	104787711	7781	11397											
ZNF438	220929	broad.mit.edu	37	10	31137485	31137485	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:31137485G>A	ENST00000452305.1	-	8	2382	c.1819C>T	c.(1819-1821)Cga>Tga	p.R607*	ZNF438_ENST00000361310.3_Nonsense_Mutation_p.R617*|ZNF438_ENST00000436087.2_Nonsense_Mutation_p.R617*|ZNF438_ENST00000444692.2_Nonsense_Mutation_p.R607*|ZNF438_ENST00000538351.2_Nonsense_Mutation_p.R568*|ZNF438_ENST00000413025.1_Nonsense_Mutation_p.R617*|ZNF438_ENST00000442986.1_Nonsense_Mutation_p.R617*|ZNF438_ENST00000331737.6_Nonsense_Mutation_p.R607*|ZNF438_ENST00000375311.1_Nonsense_Mutation_p.R181*	NM_001143770.1	NP_001137242.1	Q7Z4V0	ZN438_HUMAN	zinc finger protein 438	617					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(15)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(175;0.0587)				TCCATGCCTCGCACACTCATG	0.498													10	27					0	0	1	0	0	A	31137485	G	A	31137485	4	1	81	1	0	0	0	0	0	1	0	0	17967	1095	38	1	645	1	ZNF438	10	31137485	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	390449	31137485	104397262	7782	11398											
ZEB1	6935	broad.mit.edu	37	10	31791292	31791292	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:31791292C>T	ENST00000446923.2	+	4	679	c.288C>T	c.(286-288)tgC>tgT	p.C96C	ZEB1_ENST00000559858.1_3'UTR|ZEB1_ENST00000320985.10_Silent_p.C112C|ZEB1_ENST00000560721.2_Silent_p.C92C|ZEB1_ENST00000361642.5_Silent_p.C113C|ZEB1_ENST00000542815.3_Silent_p.C45C	NM_001128128.2|NM_001174094.1	NP_001121600.1|NP_001167565.1	P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	112					cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding	p.C112C(1)		NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				ATGATGAATGCGAGTCAGATG	0.338													17	37					0	0	1	0	0	T	31791292	C	T	31791292	2	4	81	1	0	0	0	0	0	0	0	1	17681	776	27	1		1	ZEB1	10	31791292	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	653807	31791292	103743455	7783	11399											
ARHGAP12	94134	broad.mit.edu	37	10	32197261	32197261	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:32197261G>A	ENST00000375250.5	-	3	764	c.523C>T	c.(523-525)Cgc>Tgc	p.R175C	ARHGAP12_ENST00000311380.4_Missense_Mutation_p.R175C|ARHGAP12_ENST00000344936.2_Missense_Mutation_p.R175C|ARHGAP12_ENST00000375245.4_Missense_Mutation_p.R175C|ARHGAP12_ENST00000396144.4_Missense_Mutation_p.R175C	NM_001270696.1|NM_001270698.1	NP_001257625.1|NP_001257627.1	Q8IWW6	RHG12_HUMAN	Rho GTPase activating protein 12	175					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	p.R175C(1)		NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(11)|lung(10)|skin(1)|urinary_tract(2)	31		Prostate(175;0.0199)				CCAAATGAGCGTGTCCTATTC	0.453													37	57					0	0	1	0	0	A	32197261	G	A	32197261	3	1	81	1	0	0	0	0	1	0	0	0	862	1145	40	1	2089	1	ARHGAP12	10	32197261	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	405969	32197261	103337486	7784	11400											
KIF5B	3799	broad.mit.edu	37	10	32306236	32306236	+	Nonsense_Mutation	SNP	G	G	A	rs150818260		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:32306236G>A	ENST00000302418.4	-	24	3053	c.2596C>T	c.(2596-2598)Cga>Tga	p.R866*	KIF5B_ENST00000493889.1_5'UTR	NM_004521.2	NP_004512.1	P33176	KINH_HUMAN	kinesin family member 5B	866					stress granule disassembly|vesicle transport along microtubule	kinesin complex|microtubule|perinuclear region of cytoplasm|vesicle	ATP binding|microtubule binding|microtubule motor activity		KIF5B/ALK(8)|KIF5B/RET(79)	NS(2)|breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)	35		Prostate(175;0.0137)				GCTCGAAGTCGCTTTTCCAAC	0.418			T	"RET, ALK"	NSCLC								7	67					0	0	1	0	0	A	32306236	G	A	32306236	4	1	81	1	0	0	0	0	0	1	0	0	8348	1095	38	1	303	1	KIF5B	10	32306236	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	108975	32306236	103228511	7785	11401											
C10orf68	79741	broad.mit.edu	37	10	33134814	33134814	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:33134814G>T	ENST00000375030.2	+	17	1755	c.1137G>T	c.(1135-1137)aaG>aaT	p.K379N	C10orf68_ENST00000375028.3_Missense_Mutation_p.K424N|C10orf68_ENST00000375025.4_Missense_Mutation_p.K484N			Q9H943	CJ068_HUMAN	chromosome 10 open reading frame 68	420										breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(4)	29						AGACTGATAAGGAATTCTTGG	0.348													30	61					4.02929e-09	4.84638e-09	1	1	0	T	33134814	G	T	33134814	3	4	81	1	0	0	0	0	1	0	0	0	1617	991	35	4	1314	4	C10orf68	10	33134814	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	828578	33134814	102399933	7786	11402											
C10orf68	79741	broad.mit.edu	37	10	33135326	33135326	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:33135326A>G	ENST00000375030.2	+	18	1851	c.1233A>G	c.(1231-1233)aaA>aaG	p.K411K	C10orf68_ENST00000375028.3_Silent_p.K456K|C10orf68_ENST00000375025.4_Silent_p.K516K			Q9H943	CJ068_HUMAN	chromosome 10 open reading frame 68	452										breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(4)	29						AACTCTTAAAAGATGCTATTG	0.294													21	26					0	0	1	0	0	G	33135326	A	G	33135326	2	3	81	1	0	0	0	0	0	0	0	1	1617	69	3	3		3	C10orf68	10	33135326	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	512	33135326	102399421	7787	11403											
C10orf68	79741	broad.mit.edu	37	10	33137576	33137576	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:33137576C>A	ENST00000375030.2	+	20	2049	c.1431C>A	c.(1429-1431)atC>atA	p.I477I	C10orf68_ENST00000375028.3_Silent_p.I522I|C10orf68_ENST00000375025.4_Silent_p.I582I			Q9H943	CJ068_HUMAN	chromosome 10 open reading frame 68	518										breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(4)	29						AAGAAGGTATCTTTACTAGGA	0.279													7	76					0.0293803	0.0300537	1	1	0	A	33137576	C	A	33137576	2	1	81	1	0	0	0	0	0	0	0	1	1617	903	32	4		4	C10orf68	10	33137576	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2250	33137576	102397171	7788	11404											
ITGB1	3688	broad.mit.edu	37	10	33199304	33199304	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:33199304T>C	ENST00000396033.2	-	14	2146	c.2011A>G	c.(2011-2013)Acc>Gcc	p.T671A	ITGB1_ENST00000302278.3_Missense_Mutation_p.T671A|ITGB1_ENST00000374956.4_Missense_Mutation_p.T671A|ITGB1_ENST00000423113.1_Missense_Mutation_p.T671A	NM_133376.2	NP_596867.1	P05556	ITB1_HUMAN	integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12)	671					axon guidance|blood coagulation|cell-cell adhesion mediated by integrin|cell-matrix adhesion|cellular defense response|homophilic cell adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|leukocyte migration|positive regulation of apoptosis|regulation of immune response	cell surface|cleavage furrow|focal adhesion|melanosome|neuromuscular junction|ruffle|sarcolemma	identical protein binding|protein heterodimerization activity|receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Ovarian(717;1.34e-05)|Breast(68;0.0634)				TCTACCTTGGTAATGTTAAAA	0.408													26	29					0	0	1	0	0	C	33199304	T	C	33199304	3	2	81	1	0	0	0	0	1	0	0	0	7934	1638	57	3	635	3	ITGB1	10	33199304	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	61728	33199304	102335443	7789	11405											
ITGB1	3688	broad.mit.edu	37	10	33200467	33200467	+	Missense_Mutation	SNP	C	C	T	rs140200196		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:33200467C>T	ENST00000396033.2	-	13	1975	c.1840G>A	c.(1840-1842)Gag>Aag	p.E614K	ITGB1_ENST00000302278.3_Missense_Mutation_p.E614K|ITGB1_ENST00000374956.4_Missense_Mutation_p.E614K|ITGB1_ENST00000423113.1_Missense_Mutation_p.E614K	NM_133376.2	NP_596867.1	P05556	ITB1_HUMAN	integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12)	614	Cysteine-rich tandem repeats.				axon guidance|blood coagulation|cell-cell adhesion mediated by integrin|cell-matrix adhesion|cellular defense response|homophilic cell adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|leukocyte migration|positive regulation of apoptosis|regulation of immune response	cell surface|cleavage furrow|focal adhesion|melanosome|neuromuscular junction|ruffle|sarcolemma	identical protein binding|protein heterodimerization activity|receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Ovarian(717;1.34e-05)|Breast(68;0.0634)				ACACCACACTCGCAGATGCCC	0.498													28	59					0	0	1	0	0	T	33200467	C	T	33200467	3	4	81	1	0	0	0	0	1	0	0	0	7934	893	31	1	810	1	ITGB1	10	33200467	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1163	33200467	102334280	7790	11406											
ITGB1	3688	broad.mit.edu	37	10	33218771	33218771	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:33218771A>G	ENST00000396033.2	-	4	490	c.355T>C	c.(355-357)Ttg>Ctg	p.L119L	ITGB1_ENST00000484088.1_5'UTR|ITGB1_ENST00000302278.3_Silent_p.L119L|ITGB1_ENST00000374956.4_Silent_p.L119L|ITGB1_ENST00000423113.1_Silent_p.L119L	NM_133376.2	NP_596867.1	P05556	ITB1_HUMAN	integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12)	119					axon guidance|blood coagulation|cell-cell adhesion mediated by integrin|cell-matrix adhesion|cellular defense response|homophilic cell adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|leukocyte migration|positive regulation of apoptosis|regulation of immune response	cell surface|cleavage furrow|focal adhesion|melanosome|neuromuscular junction|ruffle|sarcolemma	identical protein binding|protein heterodimerization activity|receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Ovarian(717;1.34e-05)|Breast(68;0.0634)				CGCAAAACCAACTGCTGTGGT	0.423													30	195					0	0	1	0	0	G	33218771	A	G	33218771	2	3	81	1	0	0	0	0	0	0	0	1	7934	40	2	3		3	ITGB1	10	33218771	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	18304	33218771	102315976	7791	11407											
NRP1	8829	broad.mit.edu	37	10	33469177	33469177	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:33469177G>T	ENST00000265371.4	-	18	3124	c.2599C>A	c.(2599-2601)Ctg>Atg	p.L867M	NRP1_ENST00000374867.2_Missense_Mutation_p.L867M|NRP1_ENST00000395995.1_Missense_Mutation_p.L850M|NRP1_ENST00000374875.1_Missense_Mutation_p.L679M			O14786	NRP1_HUMAN	neuropilin 1	867					axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation	extracellular region|integral to membrane|plasma membrane	growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	48					Palifermin(DB00039)|Pegaptanib(DB04895)	AGGACCCCCAGGGCACTCATG	0.527													13	115					0.00244969	0.00258825	1	1	0	T	33469177	G	T	33469177	3	4	81	1	0	0	0	0	1	0	0	0	10708	991	35	4	176	4	NRP1	10	33469177	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	250406	33469177	102065570	7792	11408											
NRP1	8829	broad.mit.edu	37	10	33475278	33475278	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:33475278C>A	ENST00000265371.4	-	15	2726	c.2201G>T	c.(2200-2202)gGc>gTc	p.G734V	NRP1_ENST00000374867.2_Missense_Mutation_p.G734V|NRP1_ENST00000395995.1_Missense_Mutation_p.G734V|NRP1_ENST00000374875.1_Missense_Mutation_p.G546V			O14786	NRP1_HUMAN	neuropilin 1	734	MAM.				axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation	extracellular region|integral to membrane|plasma membrane	growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	48					Palifermin(DB00039)|Pegaptanib(DB04895)	CCTGAGTGTGCCGACGTGGGA	0.572													19	23					6.94344e-10	8.44171e-10	1	1	0	A	33475278	C	A	33475278	3	1	81	1	0	0	0	0	1	0	0	0	10708	739	26	5	586	5	NRP1	10	33475278	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	6101	33475278	102059469	7793	11409											
NRP1	8829	broad.mit.edu	37	10	33481304	33481304	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:33481304G>T	ENST00000265371.4	-	14	2492	c.1967C>A	c.(1966-1968)tCt>tAt	p.S656Y	NRP1_ENST00000374867.2_Missense_Mutation_p.S656Y|NRP1_ENST00000395995.1_Missense_Mutation_p.S656Y|NRP1_ENST00000374875.1_Missense_Mutation_p.S468Y			O14786	NRP1_HUMAN	neuropilin 1	656	MAM.				axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation	extracellular region|integral to membrane|plasma membrane	growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	48					Palifermin(DB00039)|Pegaptanib(DB04895)	GGTCTTGTGAGAGCCCCAGCC	0.453													108	214					2.11273e-47	2.84313e-47	1	1	0	T	33481304	G	T	33481304	3	4	81	1	0	0	0	0	1	0	0	0	10708	942	33	4	824	4	NRP1	10	33481304	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	6026	33481304	102053443	7794	11410											
PARD3	56288	broad.mit.edu	37	10	34666916	34666916	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:34666916C>A	ENST00000374789.3	-	10	1843	c.1518G>T	c.(1516-1518)aaG>aaT	p.K506N	PARD3_ENST00000374790.3_Missense_Mutation_p.K462N|PARD3_ENST00000350537.4_Missense_Mutation_p.K506N|PARD3_ENST00000374788.3_Missense_Mutation_p.K506N|PARD3_ENST00000374773.1_Missense_Mutation_p.K506N|PARD3_ENST00000374794.3_Missense_Mutation_p.K462N|PARD3_ENST00000545260.1_Missense_Mutation_p.K462N|PARD3_ENST00000346874.4_Missense_Mutation_p.K506N|PARD3_ENST00000340077.5_Missense_Mutation_p.K506N|PARD3_ENST00000544292.1_Missense_Mutation_p.K236N|PARD3_ENST00000545693.1_Missense_Mutation_p.K506N|PARD3_ENST00000374776.1_Missense_Mutation_p.K506N	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	506	PDZ 2.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly	cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				TGTCTCCTGCCTTAAGTCGGC	0.468													55	68					1.54886e-18	2.01113e-18	1	1	0	A	34666916	C	A	34666916	3	1	81	1	0	0	0	0	1	0	0	0	11490	680	24	4	2651	4	PARD3	10	34666916	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1185612	34666916	100867831	7795	11411											
PARD3	56288	broad.mit.edu	37	10	34688290	34688290	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:34688290G>A	ENST00000374789.3	-	7	1183	c.858C>T	c.(856-858)atC>atT	p.I286I	PARD3_ENST00000374790.3_Silent_p.I242I|PARD3_ENST00000350537.4_Silent_p.I286I|PARD3_ENST00000374788.3_Silent_p.I286I|PARD3_ENST00000374773.1_Silent_p.I286I|PARD3_ENST00000374794.3_Silent_p.I242I|PARD3_ENST00000545260.1_Silent_p.I242I|PARD3_ENST00000346874.4_Silent_p.I286I|PARD3_ENST00000340077.5_Silent_p.I286I|PARD3_ENST00000544292.1_Silent_p.I16I|PARD3_ENST00000545693.1_Silent_p.I286I|PARD3_ENST00000374776.1_Silent_p.I286I	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	286	PDZ 1.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly	cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				GCACTACGTGGATTCCCAGAG	0.433													8	92					0	0	1	0	0	A	34688290	G	A	34688290	2	1	81	1	0	0	0	0	0	0	0	1	11490	1164	41	2		2	PARD3	10	34688290	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	21374	34688290	100846457	7796	11412											
CUL2	8453	broad.mit.edu	37	10	35324208	35324208	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:35324208G>A	ENST00000374748.1	-	11	1207	c.894C>T	c.(892-894)taC>taT	p.Y298Y	CUL2_ENST00000602371.1_Silent_p.Y241Y|CUL2_ENST00000374742.1_Silent_p.Y298Y|CUL2_ENST00000374746.1_Silent_p.Y298Y|CUL2_ENST00000537177.1_Silent_p.Y317Y|CUL2_ENST00000374749.3_Silent_p.Y298Y|CUL2_ENST00000374751.3_Silent_p.Y298Y			Q13617	CUL2_HUMAN	cullin 2	298					cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex	ubiquitin protein ligase binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|prostate(2)|skin(1)|urinary_tract(2)	31						GGAGTAAGACGTACATATTTG	0.428													6	59					0	0	1	0	0	A	35324208	G	A	35324208	2	1	81	1	0	0	0	0	0	0	0	1	4078	1140	40	1		1	CUL2	10	35324208	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	635918	35324208	100210539	7797	11413											
CUL2	8453	broad.mit.edu	37	10	35327937	35327937	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:35327937A>C	ENST00000374748.1	-	10	1101	c.788T>G	c.(787-789)aTt>aGt	p.I263S	CUL2_ENST00000602371.1_Missense_Mutation_p.I206S|CUL2_ENST00000374742.1_Missense_Mutation_p.I263S|CUL2_ENST00000374746.1_Missense_Mutation_p.I263S|CUL2_ENST00000537177.1_Missense_Mutation_p.I282S|CUL2_ENST00000374749.3_Missense_Mutation_p.I263S|CUL2_ENST00000374751.3_Missense_Mutation_p.I263S			Q13617	CUL2_HUMAN	cullin 2	263					cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex	ubiquitin protein ligase binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|prostate(2)|skin(1)|urinary_tract(2)	31						ACATTCATGAATCACCTTAGT	0.318													12	27					0	0	1	0	0	C	35327937	A	C	35327937	3	2	81	1	0	0	0	0	1	0	0	0	4078	101	4	4	1501	4	CUL2	10	35327937	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	3729	35327937	100206810	7798	11414											
CUL2	8453	broad.mit.edu	37	10	35333549	35333549	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:35333549T>G	ENST00000374748.1	-	9	972	c.659A>C	c.(658-660)aAa>aCa	p.K220T	CUL2_ENST00000602371.1_Missense_Mutation_p.K163T|CUL2_ENST00000374742.1_Missense_Mutation_p.K220T|CUL2_ENST00000374746.1_Missense_Mutation_p.K220T|CUL2_ENST00000537177.1_Missense_Mutation_p.K239T|CUL2_ENST00000374749.3_Missense_Mutation_p.K220T|CUL2_ENST00000374751.3_Missense_Mutation_p.K220T			Q13617	CUL2_HUMAN	cullin 2	220					cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex	ubiquitin protein ligase binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|prostate(2)|skin(1)|urinary_tract(2)	31						AGCTTCTTGTTTGTAATACTC	0.284													22	39					0	0	1	0	0	G	35333549	T	G	35333549	3	3	81	1	0	0	0	0	1	0	0	0	4078	1841	64	5	1634	5	CUL2	10	35333549	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	5612	35333549	100201198	7799	11415											
CUL2	8453	broad.mit.edu	37	10	35351961	35351961	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:35351961G>T	ENST00000374748.1	-	4	462	c.149C>A	c.(148-150)cCt>cAt	p.P50H	CUL2_ENST00000602371.1_Missense_Mutation_p.L8M|CUL2_ENST00000374742.1_Missense_Mutation_p.P50H|CUL2_ENST00000374746.1_Missense_Mutation_p.P50H|CUL2_ENST00000537177.1_Missense_Mutation_p.P69H|CUL2_ENST00000374749.3_Missense_Mutation_p.P50H|CUL2_ENST00000374751.3_Missense_Mutation_p.P50H			Q13617	CUL2_HUMAN	cullin 2	50					cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex	ubiquitin protein ligase binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|prostate(2)|skin(1)|urinary_tract(2)	31						AAGGGGTTCAGGATAGGCCAC	0.303													5	72					0.184627	0.18622	1	1	0	T	35351961	G	T	35351961	3	4	81	1	0	0	0	0	1	0	0	0	4078	1000	35	4	2164	4	CUL2	10	35351961	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	18412	35351961	100182786	7800	11416											
CCNY	219771	broad.mit.edu	37	10	35819081	35819081	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:35819081A>G	ENST00000374704.4	+	7	669	c.489A>G	c.(487-489)aaA>aaG	p.K163K	CCNY_ENST00000265375.9_Silent_p.K109K|CCNY_ENST00000492478.1_3'UTR|CCNY_ENST00000339497.5_Silent_p.K138K|CCNY_ENST00000374706.1_Silent_p.K109K	NM_145012.4	NP_659449.3	Q8ND76	CCNY_HUMAN	cyclin Y	163	Cyclin N-terminal.				cell division|G2/M transition of mitotic cell cycle|positive regulation of cyclin-dependent protein kinase activity|regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytoplasmic cyclin-dependent protein kinase holoenzyme complex|nucleus|plasma membrane	cyclin-dependent protein kinase regulator activity|protein kinase binding			cervix(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	8						ATTATGACAAACACAACCCAG	0.468													28	44					0	0	1	0	0	G	35819081	A	G	35819081	2	3	81	1	0	0	0	0	0	0	0	1	2958	40	2	3		3	CCNY	10	35819081	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	467120	35819081	99715666	7801	11417											
GJD4	219770	broad.mit.edu	37	10	35896773	35896773	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:35896773G>A	ENST00000321660.1	+	2	490	c.332G>A	c.(331-333)tGc>tAc	p.C111Y	RP11-425A6.5_ENST00000609313.1_RNA	NM_153368.2	NP_699199.2	Q96KN9	CXD4_HUMAN	gap junction protein, delta 4, 40.1kDa	111					cell communication	connexon complex|integral to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						CCCCGCCGCTGCCCCGACCCC	0.746													5	4					0	0	1	0	0	A	35896773	G	A	35896773	3	1	81	1	0	0	0	0	1	0	0	0	6461	1319	46	2	338	2	GJD4	10	35896773	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	77692	35896773	99637974	7802	11418											
FZD8	8325	broad.mit.edu	37	10	35929971	35929971	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:35929971C>T	ENST00000374694.1	-	1	391	c.387G>A	c.(385-387)tgG>tgA	p.W129*		NM_031866.2	NP_114072.1	Q9H461	FZD8_HUMAN	frizzled family receptor 8	129	FZ.				axonogenesis|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|T cell differentiation in thymus|vasculature development	cell projection|Golgi apparatus|integral to membrane|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	11						TGCGGTCGGGCCAGGCGAAGC	0.711													8	7					0	0	1	0	0	T	35929971	C	T	35929971	4	4	81	1	0	0	0	0	0	1	0	0	6171	740	26	2	1701	2	FZD8	10	35929971	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	33198	35929971	99604776	7803	11419											
ZNF25	219749	broad.mit.edu	37	10	38241496	38241496	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:38241496T>C	ENST00000302609.7	-	6	1142	c.930A>G	c.(928-930)ggA>ggG	p.G310G	ZNF25_ENST00000374633.1_5'UTR	NM_145011.2	NP_659448.1	P17030	ZNF25_HUMAN	zinc finger protein 25	310					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_neural(218;0.0218)|Breast(68;0.0389)|Ovarian(717;0.0443)|Renal(717;0.157)				AGGGTTTCTCTCCTGTGTGAC	0.433													8	25					0	0	1	0	0	C	38241496	T	C	38241496	2	2	81	1	0	0	0	0	0	0	0	1	17852	1538	54	3		3	ZNF25	10	38241496	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	2311525	38241496	97293251	7804	11420											
ZNF33A	7581	broad.mit.edu	37	10	38306250	38306250	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:38306250C>A	ENST00000374618.3	+	4	364	c.186C>A	c.(184-186)ttC>ttA	p.F62L	ZNF33A_ENST00000307441.9_Missense_Mutation_p.F62L|ZNF33A_ENST00000476504.1_3'UTR|ZNF33A_ENST00000458705.2_Missense_Mutation_p.F62L|ZNF33A_ENST00000469037.2_Missense_Mutation_p.F62L|ZNF33A_ENST00000432900.2_Missense_Mutation_p.F69L	NM_001278170.1|NM_001278171.1|NM_001278173.1|NM_001278174.1|NM_001278175.1|NM_001278176.1|NM_001278177.1|NM_001278178.1|NM_001278179.1|NM_006954.1|NM_006974.2	NP_001265099.1|NP_001265100.1|NP_001265102.1|NP_001265103.1|NP_001265104.1|NP_001265105.1|NP_001265106.1|NP_001265107.1|NP_001265108.1|NP_008885.1|NP_008905.1	Q06730	ZN33A_HUMAN	zinc finger protein 33A	62	KRAB.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(2)|endometrium(2)|large_intestine(8)|liver(2)|lung(27)|ovary(2)|prostate(1)|skin(2)	46						AGGTGATCTTCAGGCTGCAAC	0.443													8	122					3.09899e-07	3.60815e-07	1	1	0	A	38306250	C	A	38306250	3	1	81	1	0	0	0	0	1	0	0	0	17911	825	29	5	196	5	ZNF33A	10	38306250	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	64754	38306250	97228497	7805	11421											
ZNF37A	7587	broad.mit.edu	37	10	38406524	38406524	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:38406524A>G	ENST00000361085.5	+	7	790	c.445A>G	c.(445-447)Aat>Gat	p.N149D	ZNF37A_ENST00000351773.3_Missense_Mutation_p.N149D	NM_001178101.1|NM_003421.2	NP_001171572.1|NP_003412.1	P17032	ZN37A_HUMAN	zinc finger protein 37A							nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|prostate(1)	28						TTTTGAATACAATGAATGTGG	0.368													32	45					0	0	1	0	0	G	38406524	A	G	38406524	3	3	81	1	0	0	0	0	1	0	0	0	17929	130	5	3	459	3	ZNF37A	10	38406524	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	100274	38406524	97128223	7806	11422											
ZNF37A	7587	broad.mit.edu	37	10	38406660	38406660	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:38406660C>T	ENST00000361085.5	+	7	926	c.581C>T	c.(580-582)aCa>aTa	p.T194I	ZNF37A_ENST00000351773.3_Missense_Mutation_p.T194I	NM_001178101.1|NM_003421.2	NP_001171572.1|NP_003412.1	P17032	ZN37A_HUMAN	zinc finger protein 37A							nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|prostate(1)	28						CATCAGCAAACACATCCAAGA	0.383													30	51					0	0	1	0	0	T	38406660	C	T	38406660	3	4	81	1	0	0	0	0	1	0	0	0	17929	478	17	2	595	2	ZNF37A	10	38406660	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	136	38406660	97128087	7807	11423											
RET	5979	broad.mit.edu	37	10	43606695	43606695	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:43606695G>A	ENST00000355710.3	+	7	1536	c.1304G>A	c.(1303-1305)gGc>gAc	p.G435D	RET_ENST00000340058.5_Missense_Mutation_p.G435D	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	435					homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Sunitinib(DB01268)	GCATTCAGTGGCATCAACGTC	0.582		1	"T, Mis, N, F"	"H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"	"medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"	"medullary thyroid,  papillary thyroid, pheochromocytoma"	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma				28	51					0	0	1	0	0	A	43606695	G	A	43606695	3	1	81	1	0	0	0	0	1	0	0	0	13287	1203	42	2	1330	2	RET	10	43606695	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	5200035	43606695	91928052	7808	11424											
RET	5979	broad.mit.edu	37	10	43615023	43615023	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:43615023C>T	ENST00000355710.3	+	14	2669	c.2437C>T	c.(2437-2439)Cgg>Tgg	p.R813W	RET_ENST00000340058.5_Missense_Mutation_p.R813W	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	813	Protein kinase.		R -> Q (in HSCR1; sporadic form).		homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Sunitinib(DB01268)	CGGCTCCCTGCGGGGCTTCCT	0.701		1	"T, Mis, N, F"	"H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"	"medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"	"medullary thyroid,  papillary thyroid, pheochromocytoma"	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma				7	14					0	0	1	0	0	T	43615023	C	T	43615023	3	4	81	1	0	0	0	0	1	0	0	0	13287	759	27	1	2491	1	RET	10	43615023	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	8328	43615023	91919724	7809	11425											
CSGALNACT2	55454	broad.mit.edu	37	10	43655966	43655966	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:43655966G>A	ENST00000374466.3	+	4	1238	c.903G>A	c.(901-903)aaG>aaA	p.K301K	CSGALNACT2_ENST00000374464.1_Silent_p.K301K	NM_018590.3	NP_061060.3	Q8N6G5	CGAT2_HUMAN	chondroitin sulfate N-acetylgalactosaminyltransferase 2	301					chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process	Golgi cisterna membrane|integral to Golgi membrane	glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding			endometrium(12)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						ATCAAGACAAGAAGATTCATC	0.373													23	31					0	0	1	0	0	A	43655966	G	A	43655966	2	1	81	1	0	0	0	0	0	0	0	1	3964	933	33	2		2	CSGALNACT2	10	43655966	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	40943	43655966	91878781	7810	11426											
ZNF32	7580	broad.mit.edu	37	10	44139911	44139911	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:44139911C>T	ENST00000395797.1	-	3	597	c.409G>A	c.(409-411)Gag>Aag	p.E137K	ZNF32-AS1_ENST00000453284.1_RNA|ZNF32-AS3_ENST00000458063.1_RNA|ZNF32_ENST00000374433.2_Missense_Mutation_p.E137K	NM_001005368.1	NP_001005368.1	P17041	ZNF32_HUMAN	zinc finger protein 32	137					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(2)|ovary(1)|pancreas(1)|urinary_tract(1)	14		all_neural(218;0.0182)|Ovarian(717;0.0443)|Renal(717;0.157)		Lung(62;0.179)		TTCCCACACTCCTTGCACTGA	0.498													18	32					0	0	1	0	0	T	44139911	C	T	44139911	3	4	81	1	0	0	0	0	1	0	0	0	17895	864	30	2	416	2	ZNF32	10	44139911	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	483945	44139911	91394836	7811	11427											
C10orf10	11067	broad.mit.edu	37	10	45473040	45473040	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:45473040C>A	ENST00000298295.3	-	2	656	c.439G>T	c.(439-441)Gcc>Tcc	p.A147S	C10orf10_ENST00000496638.1_Intron|RASSF4_ENST00000340258.5_Intron|RASSF4_ENST00000374417.2_Intron|RASSF4_ENST00000472561.1_Intron|RASSF4_ENST00000334940.6_Intron	NM_007021.3	NP_008952.1	Q9NTK1	DEPP_HUMAN	chromosome 10 open reading frame 10	147						mitochondrion				lung(1)	1						CCTCTGGGGGCCCCCATGGGC	0.622													18	21					2.35188e-11	2.91332e-11	1	1	0	A	45473040	C	A	45473040	3	1	81	1	0	0	0	0	1	0	0	0	1583	739	26	5	203	5	C10orf10	10	45473040	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1333129	45473040	90061707	7812	11428											
ALOX5	240	broad.mit.edu	37	10	45878107	45878107	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:45878107G>A	ENST00000374391.2	+	2	380	c.327G>A	c.(325-327)gaG>gaA	p.E109E	ALOX5_ENST00000542434.1_Silent_p.E109E	NM_000698.3|NM_001256153.1	NP_000689.1|NP_001243082.1	P09917	LOX5_HUMAN	arachidonate 5-lipoxygenase	109	PLAT.				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process	cytosol|nuclear envelope lumen|nuclear matrix|nuclear membrane	arachidonate 5-lipoxygenase activity|iron ion binding|lipoxygenase activity|protein binding			breast(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Lung SC(717;0.0257)			Diethylcarbamazine(DB00711)|Hydrocortisone(DB00741)|Leflunomide(DB01097)|Masoprocol(DB00179)|Meclofenamic acid(DB00939)|Minocycline(DB01017)|Montelukast(DB00471)|Quinacrine(DB01103)|Vitamin E(DB00163)|Zileuton(DB00744)	GCGATGTCGAGGTTGTCCTGA	0.587													4	9					0	0	1	0	0	A	45878107	G	A	45878107	2	1	81	1	0	0	0	0	0	0	0	1	536	991	35	2		2	ALOX5	10	45878107	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	405067	45878107	89656640	7813	11429											
MARCH8	220972	broad.mit.edu	37	10	45956831	45956831	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:45956831T>C	ENST00000453424.2	-	6	1378	c.1117A>G	c.(1117-1119)Agc>Ggc	p.S373G	MARCH8_ENST00000395769.2_Missense_Mutation_p.S91G|MARCH8_ENST00000476962.1_5'UTR|MARCH8_ENST00000319836.3_Missense_Mutation_p.S91G|MARCH8_ENST00000395771.3_Missense_Mutation_p.S91G	NM_001282866.1	NP_001269795.1	Q5T0T0	MARH8_HUMAN	membrane-associated ring finger (C3HC4) 8, E3 ubiquitin protein ligase	91						cytoplasmic vesicle membrane|early endosome membrane|integral to membrane|lysosomal membrane	ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(5)|lung(4)	12						ATCAGGGGGCTCTCATCATCT	0.582													7	51					0	0	1	0	0	C	45956831	T	C	45956831	3	2	81	1	0	0	0	0	1	0	0	0	9357	1551	54	3	616	3	MARCH8	10	45956831	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	78724	45956831	89577916	7814	11430											
FAM21C	253725	broad.mit.edu	37	10	46224421	46224421	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:46224421C>T	ENST00000336378.4	+	3	356	c.238C>T	c.(238-240)Cat>Tat	p.H80Y	FAM21C_ENST00000537517.1_Missense_Mutation_p.H80Y|FAM21C_ENST00000374362.2_Missense_Mutation_p.H80Y|FAM21C_ENST00000359860.4_Intron|FAM21C_ENST00000540872.1_Missense_Mutation_p.H80Y	NM_015262.2	NP_056077.2	A8K5W5	A8K5W5_HUMAN	family with sequence similarity 21, member C	80										central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						TTGTCGCCTGCATAATGTCTT	0.388													53	91					0	0	1	0	0	T	46224421	C	T	46224421	3	4	81	1	0	0	0	0	1	0	0	0	5574	710	25	2	248	2	FAM21C	10	46224421	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	267590	46224421	89310326	7815	11431											
SYT15	83849	broad.mit.edu	37	10	46961979	46961979	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:46961979C>T	ENST00000374323.4	-	7	2003	c.1416G>A	c.(1414-1416)acG>acA	p.T472T	SYT15_ENST00000374325.3_Intron|RP11-38L15.3_ENST00000506914.1_RNA|SYT15_ENST00000374321.4_Silent_p.T419T|SYT15_ENST00000503753.1_Intron			Q9BQS2	SYT15_HUMAN	synaptotagmin XV							integral to membrane|plasma membrane				cervix(1)|endometrium(5)|kidney(2)|lung(5)	13						GTCAGGGCTCCGTGGTGCGGC	0.637													7	130					0	0	1	0	0	T	46961979	C	T	46961979	2	4	81	1	0	0	0	0	0	0	0	1	15528	639	23	1		1	SYT15	10	46961979	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	737558	46961979	88572768	7816	11432											
SYT15	83849	broad.mit.edu	37	10	46963905	46963905	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:46963905G>T	ENST00000374323.4	-	6	1804	c.1217C>A	c.(1216-1218)gCc>gAc	p.A406D	SYT15_ENST00000374325.3_Missense_Mutation_p.A353D|RP11-38L15.3_ENST00000506914.1_RNA|SYT15_ENST00000374321.4_Missense_Mutation_p.A353D|SYT15_ENST00000503753.1_Missense_Mutation_p.A353D			Q9BQS2	SYT15_HUMAN	synaptotagmin XV							integral to membrane|plasma membrane				cervix(1)|endometrium(5)|kidney(2)|lung(5)	13						GGTGGCATCGGCCTTGAAGCT	0.552													18	72					1.67942e-08	2.00033e-08	1	1	0	T	46963905	G	T	46963905	3	4	81	1	0	0	0	0	1	0	0	0	15528	1203	42	5	269	5	SYT15	10	46963905	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1926	46963905	88570842	7817	11433											
SYT15	83849	broad.mit.edu	37	10	46968587	46968587	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:46968587C>T	ENST00000374323.4	-	2	1095	c.508G>A	c.(508-510)Ggc>Agc	p.G170S	SYT15_ENST00000374325.3_Missense_Mutation_p.G117S|SYT15_ENST00000374321.4_Missense_Mutation_p.G117S|SYT15_ENST00000503753.1_Missense_Mutation_p.G117S			Q9BQS2	SYT15_HUMAN	synaptotagmin XV		C2 1.					integral to membrane|plasma membrane		p.G117S(2)		cervix(1)|endometrium(5)|kidney(2)|lung(5)	13						TCACCAAGGCCGCCGCTGGAG	0.657													4	18					0	0	1	0	0	T	46968587	C	T	46968587	3	4	81	1	0	0	0	0	1	0	0	0	15528	652	23	1	994	1	SYT15	10	46968587	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	4682	46968587	88566160	7818	11434											
GPRIN2	9721	broad.mit.edu	37	10	46999062	46999062	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:46999062C>T	ENST00000374314.4	+	1	1137	c.182C>T	c.(181-183)gCc>gTc	p.A61V	GPRIN2_ENST00000374317.1_Missense_Mutation_p.A61V			O60269	GRIN2_HUMAN	G protein regulated inducer of neurite outgrowth 2	61										breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						AGACCCCAGGCCCCGGAGGAA	0.697													11	57					0	0	1	0	0	T	46999062	C	T	46999062	3	4	81	1	0	0	0	0	1	0	0	0	6771	739	26	2	184	2	GPRIN2	10	46999062	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	30475	46999062	88535685	7819	11435											
GPRIN2	9721	broad.mit.edu	37	10	46999131	46999131	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:46999131C>A	ENST00000374314.4	+	1	1206	c.251C>A	c.(250-252)cCc>cAc	p.P84H	GPRIN2_ENST00000374317.1_Missense_Mutation_p.P84H			O60269	GRIN2_HUMAN	G protein regulated inducer of neurite outgrowth 2	84										breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						AAGGCGCGACCCAGTGCTGGA	0.687													10	55					0.00010058	0.000110448	1	1	0	A	46999131	C	A	46999131	3	1	81	1	0	0	0	0	1	0	0	0	6771	623	22	5	253	5	GPRIN2	10	46999131	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	69	46999131	88535616	7820	11436											
GPRIN2	9721	broad.mit.edu	37	10	46999227	46999227	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:46999227C>T	ENST00000374314.4	+	1	1302	c.347C>T	c.(346-348)gCt>gTt	p.A116V	GPRIN2_ENST00000374317.1_Missense_Mutation_p.A116V			O60269	GRIN2_HUMAN	G protein regulated inducer of neurite outgrowth 2	116										breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						AGTGCTGCTGCTATGCAGAGG	0.647													4	16					0	0	1	0	0	T	46999227	C	T	46999227	3	4	81	1	0	0	0	0	1	0	0	0	6771	797	28	2	349	2	GPRIN2	10	46999227	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	96	46999227	88535520	7821	11437											
RBP3	5949	broad.mit.edu	37	10	48388602	48388602	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:48388602G>A	ENST00000224600.4	-	1	2389	c.2276C>T	c.(2275-2277)gCc>gTc	p.A759V		NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	759	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	TGGCCCCACGGCCTTCACTGT	0.627													7	12					0	0	1	0	0	A	48388602	G	A	48388602	3	1	81	1	0	0	0	0	1	0	0	0	13209	1203	42	2	1483	2	RBP3	10	48388602	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1389375	48388602	87146145	7822	11438											
RBP3	5949	broad.mit.edu	37	10	48389680	48389680	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:48389680C>T	ENST00000224600.4	-	1	1311	c.1198G>A	c.(1198-1200)Gcg>Acg	p.A400T		NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	400	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	GCGTCGGGCGCGGGCCAAGAA	0.642													12	26					0	0	1	0	0	T	48389680	C	T	48389680	3	4	81	1	0	0	0	0	1	0	0	0	13209	768	27	1	2561	1	RBP3	10	48389680	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1078	48389680	87145067	7823	11439											
RBP3	5949	broad.mit.edu	37	10	48390151	48390151	+	Missense_Mutation	SNP	C	C	T	rs149256669	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:48390151C>T	ENST00000224600.4	-	1	840	c.727G>A	c.(727-729)Gcg>Acg	p.A243T		NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	243	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity	p.A243T(1)		central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	AGGATGTGCGCGATGTCCTCG	0.647													14	24					0	0	1	0	0	T	48390151	C	T	48390151	3	4	81	1	0	0	0	0	1	0	0	0	13209	768	27	1	3032	1	RBP3	10	48390151	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	471	48390151	87144596	7824	11440											
GDF10	2662	broad.mit.edu	37	10	48429011	48429011	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:48429011G>A	ENST00000224605.2	-	2	1140	c.875C>T	c.(874-876)gCg>gTg	p.A292V		NM_004962.3	NP_004953.1	P55107	BMP3B_HUMAN	growth differentiation factor 10	292					growth|skeletal system development|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(20)|skin(1)	31						AGTGGCCTGCGCGGCTCGGCG	0.726													6	8					0	0	1	0	0	A	48429011	G	A	48429011	3	1	81	1	0	0	0	0	1	0	0	0	6353	1087	38	1	569	1	GDF10	10	48429011	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	38860	48429011	87105736	7825	11441											
FRMPD2	143162	broad.mit.edu	37	10	49420106	49420106	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:49420106G>A	ENST00000374201.3	-	13	1804	c.1502C>T	c.(1501-1503)gCg>gTg	p.A501V	FRMPD2_ENST00000305531.3_Missense_Mutation_p.A476V|FRMPD2_ENST00000407470.4_Missense_Mutation_p.A469V	NM_001018071.3|NM_001042512.2	NP_001018081|NP_001035977.2	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2	501	FERM.				tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding			NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		GATCAGACTCGCTGGGATGTA	0.547													10	15					0	0	1	0	0	A	49420106	G	A	49420106	3	1	81	1	0	0	0	0	1	0	0	0	6093	1087	38	1	2495	1	FRMPD2	10	49420106	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	991095	49420106	86114641	7826	11442											
MAPK8	5599	broad.mit.edu	37	10	49643001	49643001	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:49643001G>A	ENST00000374189.1	+	12	1394	c.1213G>A	c.(1213-1215)Gat>Aat	p.D405N	MAPK8_ENST00000360332.3_Missense_Mutation_p.D405N|MAPK8_ENST00000459755.1_3'UTR|MAPK8_ENST00000374182.3_3'UTR			P45983	MK08_HUMAN	mitogen-activated protein kinase 8	405					activation of pro-apoptotic gene products|cellular response to mechanical stimulus|induction of apoptosis by intracellular signals|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of apoptosis|negative regulation of protein binding|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of deacetylase activity|regulation of protein localization|regulation of sequence-specific DNA binding transcription factor activity|response to UV|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|histone deacetylase binding|histone deacetylase regulator activity|JUN kinase activity|protein binding			breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(6)|liver(3)|lung(11)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	34		Ovarian(717;0.0221)|Lung SC(717;0.113)|all_neural(218;0.116)		Epithelial(53;3.46e-65)|Lung(62;0.125)		AATGTCAACAGATCCGACTTT	0.517													67	130					0	0	1	0	0	A	49643001	G	A	49643001	3	1	81	1	0	0	0	0	1	0	0	0	9333	942	33	2	1336	2	MAPK8	10	49643001	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	222895	49643001	85891746	7827	11443											
ARHGAP22	58504	broad.mit.edu	37	10	49662148	49662148	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:49662148C>T	ENST00000249601.4	-	7	1145	c.849G>A	c.(847-849)ctG>ctA	p.L283L	ARHGAP22_ENST00000435790.2_Silent_p.L289L|ARHGAP22_ENST00000374170.1_Intron|ARHGAP22_ENST00000374172.1_Silent_p.L174L|ARHGAP22_ENST00000417247.2_Silent_p.L193L|ARHGAP22_ENST00000417912.2_Silent_p.L299L	NM_001256024.1|NM_021226.3	NP_001242953.1|NP_067049.2	Q7Z5H3	RHG22_HUMAN	Rho GTPase activating protein 22	283	Rho-GAP.				angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol|nucleus	GTPase activator activity			endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						TGTATCTGAGCAGGTTGTAAT	0.527													6	63					0	0	1	0	0	T	49662148	C	T	49662148	2	4	81	1	0	0	0	0	0	0	0	1	869	697	25	2		2	ARHGAP22	10	49662148	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	19147	49662148	85872599	7828	11444											
LRRC18	474354	broad.mit.edu	37	10	50121843	50121843	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:50121843G>A	ENST00000374160.3	-	1	434	c.358C>T	c.(358-360)Ctc>Ttc	p.L120F	RP11-523O18.7_ENST00000430438.1_RNA|WDFY4_ENST00000413659.2_Intron|WDFY4_ENST00000325239.5_Intron|LRRC18_ENST00000298124.3_Missense_Mutation_p.L120F	NM_001006939.3	NP_001006940.3	Q8N456	LRC18_HUMAN	leucine rich repeat containing 18	120						cytoplasm				NS(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	18						ATGTTCTTGAGTTGCTTCAGC	0.607													11	22					0	0	1	0	0	A	50121843	G	A	50121843	3	1	81	1	0	0	0	0	1	0	0	0	9019	1029	36	2	435	2	LRRC18	10	50121843	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	459695	50121843	85412904	7829	11445											
LRRC18	474354	broad.mit.edu	37	10	50122110	50122110	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:50122110G>A	ENST00000374160.3	-	1	167	c.91C>T	c.(91-93)Cgc>Tgc	p.R31C	RP11-523O18.7_ENST00000430438.1_RNA|WDFY4_ENST00000413659.2_Intron|WDFY4_ENST00000325239.5_Intron|LRRC18_ENST00000298124.3_Missense_Mutation_p.R31C	NM_001006939.3	NP_001006940.3	Q8N456	LRC18_HUMAN	leucine rich repeat containing 18	31			R -> H (in dbSNP:rs17772611).			cytoplasm		p.R31C(1)		NS(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	18						AAGTCAAGGCGCTTTTTCCCA	0.478													24	39					0	0	1	0	0	A	50122110	G	A	50122110	3	1	81	1	0	0	0	0	1	0	0	0	9019	1087	38	1	702	1	LRRC18	10	50122110	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	267	50122110	85412637	7830	11446											
ERCC6	2074	broad.mit.edu	37	10	50667171	50667171	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:50667171G>A	ENST00000355832.5	-	21	4250	c.4172C>T	c.(4171-4173)gCt>gTt	p.A1391V	ERCC6_ENST00000542458.1_Missense_Mutation_p.A761V|RP11-123B3.2_ENST00000423283.1_RNA	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 6	1391					base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding			breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						TCTCATTTTAGCCAAGAGTGA	0.507								Direct reversal of damage;Nucleotide excision repair (NER)					17	111					0	0	1	0	0	A	50667171	G	A	50667171	3	1	81	1	0	0	0	0	1	0	0	0	5245	971	34	2	313	2	ERCC6	10	50667171	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	545061	50667171	84867576	7831	11447											
CHAT	1103	broad.mit.edu	37	10	50828611	50828611	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:50828611C>T	ENST00000395562.2	+	5	873	c.404C>T	c.(403-405)gCc>gTc	p.A135V	CHAT_ENST00000337653.2_Missense_Mutation_p.A217V|CHAT_ENST00000460699.1_3'UTR|CHAT_ENST00000395559.2_Missense_Mutation_p.A99V|CHAT_ENST00000339797.1_Missense_Mutation_p.A99V|CHAT_ENST00000351556.3_Missense_Mutation_p.A99V|CHAT_ENST00000455728.2_Missense_Mutation_p.A99V	NM_001142933.1|NM_001142934.1	NP_001136405|NP_001136406.1	P28329	CLAT_HUMAN	choline O-acetyltransferase	217					neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity			central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)	TCCAGCCCTGCCGTGATCTTT	0.617													34	49					0	0	1	0	0	T	50828611	C	T	50828611	3	4	81	1	0	0	0	0	1	0	0	0	3335	739	26	2	708	2	CHAT	10	50828611	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	161440	50828611	84706136	7832	11448											
CHAT	1103	broad.mit.edu	37	10	50860015	50860015	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:50860015G>A	ENST00000395562.2	+	12	1820	c.1351G>A	c.(1351-1353)Gcc>Acc	p.A451T	CHAT_ENST00000337653.2_Missense_Mutation_p.A533T|CHAT_ENST00000395559.2_Missense_Mutation_p.A415T|CHAT_ENST00000339797.1_Missense_Mutation_p.A415T|CHAT_ENST00000351556.3_Missense_Mutation_p.A415T|CHAT_ENST00000455728.2_Missense_Mutation_p.A415T	NM_001142933.1|NM_001142934.1	NP_001136405|NP_001136406.1	P28329	CLAT_HUMAN	choline O-acetyltransferase	533					neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity			central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)	CAGCCCTGATGCCTTCATCCA	0.468													7	28					0	0	1	0	0	A	50860015	G	A	50860015	3	1	81	1	0	0	0	0	1	0	0	0	3335	1319	46	2	1683	2	CHAT	10	50860015	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	31404	50860015	84674732	7833	11449											
OGDHL	55753	broad.mit.edu	37	10	50966452	50966452	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:50966452G>T	ENST00000374103.4	-	2	272	c.187C>A	c.(187-189)Ccc>Acc	p.P63T	OGDHL_ENST00000432695.1_Intron|OGDHL_ENST00000419399.1_Missense_Mutation_p.P63T	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	63					glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						ACACTCTGGGGGTTTTCCAAC	0.662													9	103					4.68919e-08	5.54405e-08	1	1	0	T	50966452	G	T	50966452	3	4	81	1	0	0	0	0	1	0	0	0	10888	1232	43	5	2933	5	OGDHL	10	50966452	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	106437	50966452	84568295	7834	11450											
NCOA4	8031	broad.mit.edu	37	10	51584762	51584762	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:51584762G>T	ENST00000452682.1	+	9	1161	c.909G>T	c.(907-909)aaG>aaT	p.K303N	NCOA4_ENST00000344348.6_Missense_Mutation_p.K287N|NCOA4_ENST00000374087.4_Missense_Mutation_p.K287N|NCOA4_ENST00000443446.1_Missense_Mutation_p.K287N|NCOA4_ENST00000438493.1_Missense_Mutation_p.K303N|NCOA4_ENST00000414907.2_Missense_Mutation_p.K121N|NCOA4_ENST00000498586.1_3'UTR|NCOA4_ENST00000430396.2_Missense_Mutation_p.K187N|NCOA4_ENST00000374082.1_Missense_Mutation_p.K287N	NM_001145260.1	NP_001138732.1	Q13772	NCOA4_HUMAN	nuclear receptor coactivator 4	287					androgen receptor signaling pathway|male gonad development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	androgen receptor binding|transcription coactivator activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|skin(1)	5						AAATGGAAAAGGTTGGAGATC	0.433			T	RET	papillary thyroid								8	125					3.09899e-07	3.60815e-07	1	1	0	T	51584762	G	T	51584762	3	4	81	1	0	0	0	0	1	0	0	0	10278	991	35	4	939	4	NCOA4	10	51584762	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	618310	51584762	83949985	7835	11451											
NCOA4	8031	broad.mit.edu	37	10	51585345	51585345	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:51585345A>C	ENST00000452682.1	+	9	1744	c.1492A>C	c.(1492-1494)Att>Ctt	p.I498L	NCOA4_ENST00000344348.6_Missense_Mutation_p.I482L|NCOA4_ENST00000374087.4_Missense_Mutation_p.I482L|NCOA4_ENST00000443446.1_Missense_Mutation_p.I482L|NCOA4_ENST00000438493.1_Missense_Mutation_p.I498L|NCOA4_ENST00000414907.2_Missense_Mutation_p.I316L|NCOA4_ENST00000430396.2_Missense_Mutation_p.I382L|NCOA4_ENST00000374082.1_Missense_Mutation_p.I482L	NM_001145260.1	NP_001138732.1	Q13772	NCOA4_HUMAN	nuclear receptor coactivator 4	482					androgen receptor signaling pathway|male gonad development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	androgen receptor binding|transcription coactivator activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|skin(1)	5						TCCTTCTAGAATTGCTGATTC	0.448			T	RET	papillary thyroid								55	146					0	0	1	0	0	C	51585345	A	C	51585345	3	2	81	1	0	0	0	0	1	0	0	0	10278	101	4	4	1522	4	NCOA4	10	51585345	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	583	51585345	83949402	7836	11452											
ASAH2	56624	broad.mit.edu	37	10	52008258	52008258	+	Missense_Mutation	SNP	A	A	G	rs114108618	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:52008258A>G	ENST00000395526.4	-	1	112	c.113T>C	c.(112-114)aTt>aCt	p.I38T	ASAH2_ENST00000329428.6_Missense_Mutation_p.I19T|ASAH2_ENST00000447815.1_Missense_Mutation_p.I38T	NM_019893.2	NP_063946.2	Q9NR71	ASAH2_HUMAN	N-acylsphingosine amidohydrolase (non-lysosomal ceramidase) 2						apoptosis|ceramide metabolic process|signal transduction	integral to membrane|mitochondrion|plasma membrane	ceramidase activity			large_intestine(1)|lung(9)|urinary_tract(1)	11						GTGGTTTTCAATGGTCCCACT	0.433													4	39					0	0	1	0	0	G	52008258	A	G	52008258	3	3	81	1	0	0	0	0	1	0	0	0	1006	101	4	3	2309	3	ASAH2	10	52008258	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	422913	52008258	83526489	7837	11453											
A1CF	29974	broad.mit.edu	37	10	52566559	52566559	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:52566559G>T	ENST00000374001.2	-	12	1830	c.1691C>A	c.(1690-1692)gCa>gAa	p.A564E	A1CF_ENST00000282641.2_Missense_Mutation_p.A572E|A1CF_ENST00000373995.3_Missense_Mutation_p.A572E|A1CF_ENST00000373997.3_Missense_Mutation_p.A564E|A1CF_ENST00000395495.1_Missense_Mutation_p.A517E|A1CF_ENST00000395489.2_Missense_Mutation_p.A565E|A1CF_ENST00000373993.1_Missense_Mutation_p.A572E|ASAH2B_ENST00000483649.1_Intron			Q9NQ94	A1CF_HUMAN	APOBEC1 complementation factor						cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						GGTTGTATATGCTGCTAAGTC	0.478													27	43					6.32553e-13	7.94418e-13	1	1	0	T	52566559	G	T	52566559	3	4	81	1	0	0	0	0	1	0	0	0	2	1319	46	5	73	5	A1CF	10	52566559	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	558301	52566559	82968188	7838	11454											
A1CF	29974	broad.mit.edu	37	10	52601697	52601697	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:52601697C>T	ENST00000374001.2	-	4	429	c.290G>A	c.(289-291)gGa>gAa	p.G97E	A1CF_ENST00000282641.2_Missense_Mutation_p.G97E|A1CF_ENST00000373995.3_Missense_Mutation_p.G105E|A1CF_ENST00000373997.3_Missense_Mutation_p.G97E|A1CF_ENST00000395495.1_Missense_Mutation_p.G97E|A1CF_ENST00000395489.2_Missense_Mutation_p.G90E|A1CF_ENST00000373993.1_Missense_Mutation_p.G97E			Q9NQ94	A1CF_HUMAN	APOBEC1 complementation factor		RRM 1.				cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						AAATGCATATCCTCTATTGTT	0.294													17	38					0	0	1	0	0	T	52601697	C	T	52601697	3	4	81	1	0	0	0	0	1	0	0	0	2	855	30	2	1530	2	A1CF	10	52601697	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	35138	52601697	82933050	7839	11455											
PRKG1	5592	broad.mit.edu	37	10	54031201	54031201	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:54031201G>A	ENST00000373980.4	+	11	1682	c.1265G>A	c.(1264-1266)cGc>cAc	p.R422H	PRKG1-AS1_ENST00000452247.2_RNA|PRKG1_ENST00000401604.2_Missense_Mutation_p.R407H|PRKG1-AS1_ENST00000426785.2_RNA|PRKG1_ENST00000373975.2_Missense_Mutation_p.R125H|PRKG1_ENST00000373985.1_Missense_Mutation_p.R395H	NM_006258.3	NP_006249.1	Q13976	KGP1_HUMAN	protein kinase, cGMP-dependent, type I	407	Protein kinase.				actin cytoskeleton organization|platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	53		all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173)		all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606)		GAGCACATCCGCTCAGAGAAG	0.463													4	24					0	0	1	0	0	A	54031201	G	A	54031201	3	1	81	1	0	0	0	0	1	0	0	0	12574	1087	38	1	1577	1	PRKG1	10	54031201	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1429504	54031201	81503546	7840	11456											
DKK1	22943	broad.mit.edu	37	10	54076370	54076370	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:54076370G>A	ENST00000373970.3	+	4	743	c.604G>A	c.(604-606)Gct>Act	p.A202T		NM_012242.2	NP_036374.1	O94907	DKK1_HUMAN	dickkopf WNT signaling pathway inhibitor 1	202	DKK-type Cys-2.				negative regulation of peptidyl-serine phosphorylation|negative regulation of protein complex assembly|negative regulation of transcription from RNA polymerase II promoter|positive regulation of heart induction by negative regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization	extracellular space|plasma membrane	growth factor activity|low-density lipoprotein particle receptor binding|receptor antagonist activity|signal transducer activity			kidney(2)|large_intestine(4)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	16						ATTGTGTTGTGCTAGACACTT	0.433													41	83					0	0	1	0	0	A	54076370	G	A	54076370	3	1	81	1	0	0	0	0	1	0	0	0	4572	1319	46	2	618	2	DKK1	10	54076370	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	45169	54076370	81458377	7841	11457											
PCDH15	65217	broad.mit.edu	37	10	55582700	55582700	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:55582700C>A	ENST00000361849.3	-	34	5186	c.4792G>T	c.(4792-4794)Gat>Tat	p.D1598Y	PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395433.1_Missense_Mutation_p.D1573Y|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395432.2_Missense_Mutation_p.D1556Y|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.D1593Y|PCDH15_ENST00000437009.1_Missense_Mutation_p.D1527Y|PCDH15_ENST00000395445.1_Intron|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395438.1_Intron|PCDH15_ENST00000320301.6_Missense_Mutation_p.D1596Y|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000414778.1_Intron	NM_001142763.1|NM_001142764.1|NM_001142765.1|NM_001142768.1	NP_001136235.1|NP_001136236.1|NP_001136237.1|NP_001136240.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1596					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	p.D1596Y(1)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TGCTGCAGATCTATGATCTCT	0.468										HNSCC(58;0.16)			6	114					0.0215528	0.0221217	1	1	0	A	55582700	C	A	55582700	3	1	81	1	0	0	0	0	1	0	0	0	11558	913	32	4	2691	4	PCDH15	10	55582700	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1506330	55582700	79952047	7842	11458											
PCDH15	65217	broad.mit.edu	37	10	55721597	55721597	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:55721597G>T	ENST00000373965.2	-	23	3339	c.2945C>A	c.(2944-2946)cCt>cAt	p.P982H	PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395433.1_Missense_Mutation_p.P953H|PCDH15_ENST00000361849.3_Missense_Mutation_p.P975H|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395432.2_Missense_Mutation_p.P938H|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000409834.1_Missense_Mutation_p.P586H|PCDH15_ENST00000395430.1_Missense_Mutation_p.P975H|PCDH15_ENST00000437009.1_Missense_Mutation_p.P904H|PCDH15_ENST00000395445.1_Missense_Mutation_p.P982H|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395438.1_Missense_Mutation_p.P975H|PCDH15_ENST00000320301.6_Missense_Mutation_p.P975H|PCDH15_ENST00000414778.1_Missense_Mutation_p.P980H	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	975	Cadherin 9.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				AATACTGGCAGGGTAAGGAAA	0.328										HNSCC(58;0.16)			6	95					0.0293803	0.0300537	1	1	0	T	55721597	G	T	55721597	3	4	81	1	0	0	0	0	1	0	0	0	11558	1000	35	4	4610	4	PCDH15	10	55721597	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	138897	55721597	79813150	7843	11459											
PCDH15	65217	broad.mit.edu	37	10	56138598	56138598	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:56138598C>T	ENST00000373965.2	-	4	656	c.262G>A	c.(262-264)Gat>Aat	p.D88N	PCDH15_ENST00000395446.1_Missense_Mutation_p.D88N|PCDH15_ENST00000373955.1_Missense_Mutation_p.D88N|PCDH15_ENST00000395433.1_Missense_Mutation_p.D66N|PCDH15_ENST00000361849.3_Missense_Mutation_p.D88N|PCDH15_ENST00000395440.1_Missense_Mutation_p.D88N|PCDH15_ENST00000395432.2_Missense_Mutation_p.D88N|PCDH15_ENST00000395442.1_Missense_Mutation_p.D88N|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.D88N|PCDH15_ENST00000437009.1_Missense_Mutation_p.D88N|PCDH15_ENST00000395445.1_Missense_Mutation_p.D88N|PCDH15_ENST00000373957.3_Missense_Mutation_p.D66N|PCDH15_ENST00000395438.1_Missense_Mutation_p.D88N|PCDH15_ENST00000320301.6_Missense_Mutation_p.D88N|PCDH15_ENST00000414778.1_Missense_Mutation_p.D93N	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	88	Cadherin 1.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	p.D88Y(3)|p.D93Y(2)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TTAACAGGATCCATCAACACC	0.403										HNSCC(58;0.16)			13	141					0	0	1	0	0	T	56138598	C	T	56138598	3	4	81	1	0	0	0	0	1	0	0	0	11558	855	30	2	7369	2	PCDH15	10	56138598	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	417001	56138598	79396149	7844	11460											
ZWINT	11130	broad.mit.edu	37	10	58118442	58118442	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:58118442G>A	ENST00000373944.3	-	7	705	c.667C>T	c.(667-669)Ctg>Ttg	p.L223L	ZWINT_ENST00000460654.1_5'UTR|ZWINT_ENST00000395405.1_Silent_p.L223L|ZWINT_ENST00000361148.6_Silent_p.L176L|ZWINT_ENST00000318387.2_Silent_p.L103L			O95229	ZWINT_HUMAN	ZW10 interacting kinetochore protein	223					cell division|establishment of localization in cell|mitotic cell cycle checkpoint|mitotic prometaphase|mitotic sister chromatid segregation|phosphatidylinositol-mediated signaling|spindle organization	condensed chromosome kinetochore|cytosol|nucleus	protein N-terminus binding			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)	20						GGGAACAACAGCTTACCCTGC	0.517													15	26					0	0	1	0	0	A	58118442	G	A	58118442	2	1	81	1	0	0	0	0	0	0	0	1	18289	962	34	2		2	ZWINT	10	58118442	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1979844	58118442	77416305	7845	11461											
IPMK	253430	broad.mit.edu	37	10	59986875	59986875	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:59986875C>T	ENST00000373935.3	-	3	624	c.302G>A	c.(301-303)gGt>gAt	p.G101D		NM_152230.4	NP_689416.1	Q8NFU5	IPMK_HUMAN	inositol polyphosphate multikinase	101						nucleus	ATP binding|inositol trisphosphate 6-kinase activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)	22						TAGAAGAACACCATCAAAACA	0.358													17	42					0	0	1	0	0	T	59986875	C	T	59986875	3	4	81	1	0	0	0	0	1	0	0	0	7836	507	18	2	964	2	IPMK	10	59986875	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1868433	59986875	75547872	7846	11462											
FAM13C	220965	broad.mit.edu	37	10	61029813	61029813	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:61029813G>T	ENST00000373867.3	-	8	865	c.400C>A	c.(400-402)Ctc>Atc	p.L134I	FAM13C_ENST00000442566.3_Missense_Mutation_p.L238I|FAM13C_ENST00000435852.2_Missense_Mutation_p.L217I|FAM13C_ENST00000419214.2_Missense_Mutation_p.L217I|FAM13C_ENST00000422313.2_Missense_Mutation_p.L217I|FAM13C_ENST00000373868.2_Missense_Mutation_p.L217I|FAM13C_ENST00000277705.6_Missense_Mutation_p.L238I|FAM13C_ENST00000468840.2_Missense_Mutation_p.L134I	NM_001166698.1	NP_001160170.1	Q8NE31	FA13C_HUMAN	family with sequence similarity 13, member C	217										NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						ACAGAGTGGAGGTCTTCTGGT	0.527													5	36					0.00116845	0.00124301	1	1	0	T	61029813	G	T	61029813	3	4	81	1	0	0	0	0	1	0	0	0	5484	1000	35	4	1140	4	FAM13C	10	61029813	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1042938	61029813	74504934	7847	11463											
SLC16A9	220963	broad.mit.edu	37	10	61413727	61413727	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:61413727T>C	ENST00000395348.3	-	5	1693	c.1057A>G	c.(1057-1059)Aca>Gca	p.T353A	SLC16A9_ENST00000395347.1_Missense_Mutation_p.T353A	NM_194298.2	NP_919274.1	Q7RTY1	MOT9_HUMAN	solute carrier family 16, member 9	353					urate metabolic process	integral to membrane|plasma membrane	symporter activity			kidney(3)|large_intestine(5)|lung(5)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	23						CCAACTGCTGTCATAATGCCT	0.378													31	40					0	0	1	0	0	C	61413727	T	C	61413727	3	2	81	1	0	0	0	0	1	0	0	0	14470	1667	58	3	480	3	SLC16A9	10	61413727	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	383914	61413727	74121020	7848	11464											
SLC16A9	220963	broad.mit.edu	37	10	61413994	61413994	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:61413994C>A	ENST00000395348.3	-	5	1426	c.790G>T	c.(790-792)Gag>Tag	p.E264*	SLC16A9_ENST00000395347.1_Nonsense_Mutation_p.E264*	NM_194298.2	NP_919274.1	Q7RTY1	MOT9_HUMAN	solute carrier family 16, member 9	264					urate metabolic process	integral to membrane|plasma membrane	symporter activity			kidney(3)|large_intestine(5)|lung(5)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	23						GTTTCAGGCTCTTTTGTGTGT	0.413													9	206					0.0477658	0.0487066	1	1	0	A	61413994	C	A	61413994	4	1	81	1	0	0	0	0	0	1	0	0	14470	922	32	4	747	4	SLC16A9	10	61413994	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	267	61413994	74120753	7849	11465											
SLC16A9	220963	broad.mit.edu	37	10	61414270	61414270	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:61414270G>T	ENST00000395348.3	-	5	1150	c.514C>A	c.(514-516)Ctg>Atg	p.L172M	SLC16A9_ENST00000395347.1_Missense_Mutation_p.L172M	NM_194298.2	NP_919274.1	Q7RTY1	MOT9_HUMAN	solute carrier family 16, member 9	172					urate metabolic process	integral to membrane|plasma membrane	symporter activity			kidney(3)|large_intestine(5)|lung(5)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	23						CCCACAATCAGCAAGCATCCA	0.438													35	76					2.32173e-10	2.84064e-10	1	1	0	T	61414270	G	T	61414270	3	4	81	1	0	0	0	0	1	0	0	0	14470	962	34	4	1023	4	SLC16A9	10	61414270	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	276	61414270	74120477	7850	11466											
ANK3	288	broad.mit.edu	37	10	61828939	61828939	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:61828939G>T	ENST00000280772.2	-	37	11891	c.11700C>A	c.(11698-11700)gcC>gcA	p.A3900A	ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)						establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						AAGTAGTAAGGGCTTTGGTTT	0.393													25	218					2.39556e-15	3.05451e-15	1	1	0	T	61828939	G	T	61828939	2	4	81	1	0	0	0	0	0	0	0	1	618	1219	43	5		5	ANK3	10	61828939	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	414669	61828939	73705808	7851	11467											
ANK3	288	broad.mit.edu	37	10	61829138	61829138	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:61829138A>G	ENST00000280772.2	-	37	11692	c.11501T>C	c.(11500-11502)gTa>gCa	p.V3834A	ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)						establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TCCTTGTAGTACCCCTGTCTT	0.383													17	241					0	0	1	0	0	G	61829138	A	G	61829138	3	3	81	1	0	0	0	0	1	0	0	0	618	391	14	3	1973	3	ANK3	10	61829138	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	199	61829138	73705609	7852	11468											
ANK3	288	broad.mit.edu	37	10	61831460	61831460	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:61831460G>T	ENST00000280772.2	-	37	9370	c.9179C>A	c.(9178-9180)tCt>tAt	p.S3060Y	ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)						establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						ACTAGAGGGAGATTCCTTTCC	0.468													49	76					3.7052e-28	4.92758e-28	1	1	0	T	61831460	G	T	61831460	3	4	81	1	0	0	0	0	1	0	0	0	618	942	33	4	4295	4	ANK3	10	61831460	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2322	61831460	73703287	7853	11469											
ANK3	288	broad.mit.edu	37	10	61834476	61834476	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:61834476C>T	ENST00000280772.2	-	37	6354	c.6163G>A	c.(6163-6165)Gat>Aat	p.D2055N	ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)						establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TTCTTTGCATCCTCAAACTTG	0.398													6	115					0	0	1	0	0	T	61834476	C	T	61834476	3	4	81	1	0	0	0	0	1	0	0	0	618	855	30	2	7311	2	ANK3	10	61834476	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3016	61834476	73700271	7854	11470											
ANK3	288	broad.mit.edu	37	10	61835998	61835998	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:61835998A>G	ENST00000280772.2	-	37	4832	c.4641T>C	c.(4639-4641)tcT>tcC	p.S1547S	ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)		Ser-rich.				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						ATTTGATTGGAGAAGGTGTCG	0.448													16	129					0	0	1	0	0	G	61835998	A	G	61835998	2	3	81	1	0	0	0	0	0	0	0	1	618	291	11	3		3	ANK3	10	61835998	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	1522	61835998	73698749	7855	11471											
ANK3	288	broad.mit.edu	37	10	61932131	61932131	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:61932131G>A	ENST00000280772.2	-	21	2604	c.2413C>T	c.(2413-2415)Cgc>Tgc	p.R805C	ANK3_ENST00000373827.2_Missense_Mutation_p.R799C|ANK3_ENST00000503366.1_Missense_Mutation_p.R788C	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)						establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TAGCCGAGGCGCCGGGCAATG	0.458													10	27					0	0	1	0	0	A	61932131	G	A	61932131	3	1	81	1	0	0	0	0	1	0	0	0	618	1087	38	1	11145	1	ANK3	10	61932131	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	96133	61932131	73602616	7856	11472											
CDK1	983	broad.mit.edu	37	10	62545441	62545441	+	Nonsense_Mutation	SNP	C	C	T	rs11540347		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:62545441C>T	ENST00000448257.2	+	4	415	c.214C>T	c.(214-216)Cag>Tag	p.Q72*	CDK1_ENST00000395284.3_Nonsense_Mutation_p.Q72*|CDK1_ENST00000316629.4_Nonsense_Mutation_p.Q72*|CDK1_ENST00000373809.2_Nonsense_Mutation_p.Q72*			P06493	CDK1_HUMAN	cyclin-dependent kinase 1	72	Protein kinase.				activation of MAPK activity|activation of MAPKK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|axon guidance|cell division|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|mitosis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein localization to kinetochore|Ras protein signal transduction|regulation of transcription involved in G1/S phase of mitotic cell cycle|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|midbody|nucleoplasm|spindle microtubule	ATP binding|cyclin-dependent protein kinase activity|RNA polymerase II carboxy-terminal domain kinase activity			ovary(1)	1						TGTGCTTATGCAGGATTCCAG	0.368													24	203					0	0	1	0	0	T	62545441	C	T	62545441	4	4	81	1	0	0	0	0	0	1	0	0	3146	711	25	2	224	2	CDK1	10	62545441	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	613310	62545441	72989306	7857	11473											
TMEM26	219623	broad.mit.edu	37	10	63170129	63170129	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:63170129G>T	ENST00000399298.3	-	6	1426	c.1058C>A	c.(1057-1059)cCt>cAt	p.P353H	TMEM26_ENST00000507507.1_5'UTR	NM_178505.6	NP_848600.2	Q6ZUK4	TMM26_HUMAN	transmembrane protein 26	353						integral to membrane				kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	18	Prostate(12;0.0112)					GCCCCGCAAAGGAATAGCCAG	0.582													5	36					0.014758	0.0152304	1	1	0	T	63170129	G	T	63170129	3	4	81	1	0	0	0	0	1	0	0	0	16211	1000	35	4	52	4	TMEM26	10	63170129	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	624688	63170129	72364618	7858	11474											
TMEM26	219623	broad.mit.edu	37	10	63170226	63170226	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:63170226C>A	ENST00000399298.3	-	6	1329	c.961G>T	c.(961-963)Ggc>Tgc	p.G321C	TMEM26_ENST00000507507.1_5'UTR	NM_178505.6	NP_848600.2	Q6ZUK4	TMM26_HUMAN	transmembrane protein 26	321						integral to membrane				kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	18	Prostate(12;0.0112)					CCTTTCAGGCCTTCTGACTGA	0.567													19	27					0.000229342	0.000250086	1	1	0	A	63170226	C	A	63170226	3	1	81	1	0	0	0	0	1	0	0	0	16211	681	24	4	149	4	TMEM26	10	63170226	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	97	63170226	72364521	7859	11475											
ARID5B	84159	broad.mit.edu	37	10	63817058	63817058	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:63817058C>T	ENST00000279873.7	+	6	1439	c.1029C>T	c.(1027-1029)ccC>ccT	p.P343P	ARID5B_ENST00000309334.5_Silent_p.P100P	NM_032199.2	NP_115575.1	Q14865	ARI5B_HUMAN	AT rich interactive domain 5B (MRF1-like)	343	ARID.				liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent		protein binding|transcription regulatory region DNA binding			NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	Prostate(12;0.016)|all_hematologic(501;0.215)					AACGAATACCCTATTTAGGTT	0.373													29	78					0	0	1	0	0	T	63817058	C	T	63817058	2	4	81	1	0	0	0	0	0	0	0	1	919	668	24	2		2	ARID5B	10	63817058	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	646832	63817058	71717689	7860	11476											
ARID5B	84159	broad.mit.edu	37	10	63851262	63851262	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:63851262T>C	ENST00000279873.7	+	10	2450	c.2040T>C	c.(2038-2040)tcT>tcC	p.S680S	ARID5B_ENST00000309334.5_Silent_p.S437S	NM_032199.2	NP_115575.1	Q14865	ARI5B_HUMAN	AT rich interactive domain 5B (MRF1-like)	680					liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent		protein binding|transcription regulatory region DNA binding			NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	Prostate(12;0.016)|all_hematologic(501;0.215)					TGCTCTACTCTAGGGGCAACC	0.542													15	17					0	0	1	0	0	C	63851262	T	C	63851262	2	2	81	1	0	0	0	0	0	0	0	1	919	1509	53	3		3	ARID5B	10	63851262	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	34204	63851262	71683485	7861	11477											
ZNF365	22891	broad.mit.edu	37	10	64136617	64136617	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:64136617T>C	ENST00000395254.3	+	2	945	c.665T>C	c.(664-666)gTg>gCg	p.V222A	ZNF365_ENST00000410046.3_Missense_Mutation_p.V222A|ZNF365_ENST00000466727.1_Intron|ZNF365_ENST00000395255.3_Missense_Mutation_p.V222A	NM_014951.2	NP_055766.2	Q70YC4	TALAN_HUMAN	zinc finger protein 365	0										breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	Prostate(12;0.0297)|all_hematologic(501;0.228)					AACAGACAGGTGGACGTGGCC	0.512													40	63					0	0	1	0	0	C	64136617	T	C	64136617	3	2	81	1	0	0	0	0	1	0	0	0	17926	1696	59	3	667	3	ZNF365	10	64136617	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	285355	64136617	71398130	7862	11478											
JMJD1C	221037	broad.mit.edu	37	10	64967463	64967463	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:64967463C>T	ENST00000399262.2	-	10	4184	c.3966G>A	c.(3964-3966)caG>caA	p.Q1322Q	JMJD1C_ENST00000399251.1_Silent_p.Q1103Q|JMJD1C_ENST00000402544.1_Silent_p.Q1103Q|JMJD1C_ENST00000542921.1_Silent_p.Q1140Q	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	1322					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					TAGAAGCTAACTGCATTGCTG	0.438													7	124					0	0	1	0	0	T	64967463	C	T	64967463	2	4	81	1	0	0	0	0	0	0	0	1	7994	564	20	2		2	JMJD1C	10	64967463	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	830846	64967463	70567284	7863	11479											
JMJD1C	221037	broad.mit.edu	37	10	64973474	64973474	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:64973474G>T	ENST00000399262.2	-	8	2671	c.2453C>A	c.(2452-2454)gCt>gAt	p.A818D	JMJD1C_ENST00000399251.1_Missense_Mutation_p.A599D|JMJD1C_ENST00000402544.1_Missense_Mutation_p.A599D|JMJD1C_ENST00000542921.1_Missense_Mutation_p.A636D	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	818					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					GCTGGCATGAGCACTCTCTAG	0.527													18	14					3.41278e-10	4.16681e-10	1	1	0	T	64973474	G	T	64973474	3	4	81	1	0	0	0	0	1	0	0	0	7994	971	34	4	5245	4	JMJD1C	10	64973474	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	6011	64973474	70561273	7864	11480											
CTNNA3	29119	broad.mit.edu	37	10	68139106	68139106	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:68139106G>A	ENST00000433211.2	-	12	1710	c.1536C>T	c.(1534-1536)agC>agT	p.S512S	CTNNA3_ENST00000373744.4_Silent_p.S512S	NM_013266.2	NP_037398.2	Q9UI47	CTNA3_HUMAN	catenin (cadherin-associated protein), alpha 3						cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						CCAAGATATGGCTTTCTGTAA	0.378													4	40					0	0	1	0	0	A	68139106	G	A	68139106	2	1	81	1	0	0	0	0	0	0	0	1	4038	1194	42	2		2	CTNNA3	10	68139106	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	3165632	68139106	67395641	7865	11481											
HERC4	26091	broad.mit.edu	37	10	69682740	69682740	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:69682740C>T	ENST00000395198.3	-	26	3369	c.3122G>A	c.(3121-3123)cGc>cAc	p.R1041H	HERC4_ENST00000412272.2_Missense_Mutation_p.R963H|HERC4_ENST00000277817.6_Missense_Mutation_p.R931H|HERC4_ENST00000373700.4_Missense_Mutation_p.R1033H	NM_022079.2	NP_071362.1	Q5GLZ8	HERC4_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 4	1041	HECT.				cell differentiation|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|spermatogenesis	cytosol	ubiquitin-protein ligase activity			NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	27						CAGTTTAGAGCGTAGAGTTTC	0.358													57	103					0	0	1	0	0	T	69682740	C	T	69682740	3	4	81	1	0	0	0	0	1	0	0	0	7101	768	27	1	55	1	HERC4	10	69682740	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1543634	69682740	65852007	7866	11482											
HERC4	26091	broad.mit.edu	37	10	69750132	69750132	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:69750132A>C	ENST00000395198.3	-	14	1716	c.1469T>G	c.(1468-1470)cTt>cGt	p.L490R	HERC4_ENST00000412272.2_Missense_Mutation_p.L490R|HERC4_ENST00000277817.6_Missense_Mutation_p.L380R|HERC4_ENST00000395187.2_3'UTR|HERC4_ENST00000373700.4_Missense_Mutation_p.L490R	NM_022079.2	NP_071362.1	Q5GLZ8	HERC4_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 4	490					cell differentiation|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|spermatogenesis	cytosol	ubiquitin-protein ligase activity			NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	27						TTTAGGAATAAGATTCTTTTC	0.328													9	39					0	0	1	0	0	C	69750132	A	C	69750132	3	2	81	1	0	0	0	0	1	0	0	0	7101	72	3	5	1756	5	HERC4	10	69750132	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	67392	69750132	65784615	7867	11483											
HERC4	26091	broad.mit.edu	37	10	69804316	69804316	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:69804316C>G	ENST00000395198.3	-	4	478	c.231G>C	c.(229-231)caG>caC	p.Q77H	HERC4_ENST00000412272.2_Missense_Mutation_p.Q77H|HERC4_ENST00000395187.2_Intron|HERC4_ENST00000373700.4_Missense_Mutation_p.Q77H	NM_022079.2	NP_071362.1	Q5GLZ8	HERC4_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 4	77					cell differentiation|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|spermatogenesis	cytosol	ubiquitin-protein ligase activity			NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	27						GGGCAACAACCTGCTCTACAG	0.393													9	90					0	0	1	0	0	G	69804316	C	G	69804316	3	3	81	1	0	0	0	0	1	0	0	0	7101	680	24	4	3034	4	HERC4	10	69804316	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	54184	69804316	65730431	7868	11484											
MYPN	84665	broad.mit.edu	37	10	69966569	69966569	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:69966569G>A	ENST00000358913.5	+	19	4190	c.3702G>A	c.(3700-3702)caG>caA	p.Q1234Q	MYPN_ENST00000354393.2_Silent_p.Q959Q|MYPN_ENST00000540630.1_Silent_p.Q1234Q	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN	myopalladin	1234	Ig-like 5.|Interaction with ACTN.					nucleus|sarcomere	actin binding			breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						TTCTCATTCAGCCAGCCAAGA	0.483													45	68					0	0	1	0	0	A	69966569	G	A	69966569	2	1	81	1	0	0	0	0	0	0	0	1	10146	962	34	2		2	MYPN	10	69966569	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	162253	69966569	65568178	7869	11485											
PBLD	64081	broad.mit.edu	37	10	70056658	70056658	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:70056658C>A	ENST00000358769.2	-	3	371	c.169G>T	c.(169-171)Gac>Tac	p.D57Y	PBLD_ENST00000495025.2_Missense_Mutation_p.D57Y|PBLD_ENST00000309049.4_Missense_Mutation_p.D57Y|PBLD_ENST00000336578.1_Missense_Mutation_p.D24Y|PBLD_ENST00000432941.1_Missense_Mutation_p.D57Y	NM_022129.3	NP_071412.2	P30039	PBLD_HUMAN	phenazine biosynthesis-like protein domain containing	57					biosynthetic process		isomerase activity			endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	21						GCAAAGTTGTCTGTCGGGTGC	0.413													8	137					5.4927e-09	6.5834e-09	1	1	0	A	70056658	C	A	70056658	3	1	81	1	0	0	0	0	1	0	0	0	11536	913	32	4	818	4	PBLD	10	70056658	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	90089	70056658	65478089	7870	11486											
SLC25A16	8034	broad.mit.edu	37	10	70248235	70248235	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:70248235C>T	ENST00000609923.1	-	7	860	c.762G>A	c.(760-762)gcG>gcA	p.A254A	SLC25A16_ENST00000265870.3_5'UTR|SLC25A16_ENST00000539557.1_Silent_p.A156A	NM_152707.3	NP_689920.1	P16260	GDC_HUMAN	solute carrier family 25 (mitochondrial carrier; Graves disease autoantigen), member 16						coenzyme biosynthetic process|pantothenate metabolic process	integral to membrane|mitochondrial inner membrane	binding|solute:solute antiporter activity			endometrium(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	7						ATATTGTCTGCGCTATTGCTC	0.343													8	18					0	0	1	0	0	T	70248235	C	T	70248235	2	4	81	1	0	0	0	0	0	0	0	1	14533	755	27	1		1	SLC25A16	10	70248235	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	191577	70248235	65286512	7871	11487											
TET1	80312	broad.mit.edu	37	10	70333561	70333561	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:70333561C>A	ENST00000373644.4	+	2	1675	c.1466C>A	c.(1465-1467)cCt>cAt	p.P489H		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	489					DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						AATTCATTACCTCCAGTAATG	0.448													6	46					5.18039e-06	5.88187e-06	1	1	0	A	70333561	C	A	70333561	3	1	81	1	0	0	0	0	1	0	0	0	15828	681	24	4	1468	4	TET1	10	70333561	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	85326	70333561	65201186	7872	11488											
CCAR1	55749	broad.mit.edu	37	10	70531163	70531163	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:70531163C>T	ENST00000265872.6	+	18	2618	c.2499C>T	c.(2497-2499)ggC>ggT	p.G833G	CCAR1_ENST00000543719.1_Silent_p.G818G|CCAR1_ENST00000535016.1_Silent_p.G818G	NM_001282959.1|NM_001282960.1|NM_018237.2	NP_001269888.1|NP_001269889.1|NP_060707.2	Q8IX12	CCAR1_HUMAN	cell division cycle and apoptosis regulator 1	833	Glu-rich.				apoptosis|cell cycle|nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm|perinuclear region of cytoplasm	calcium ion binding|nucleic acid binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(7)|skin(3)	56						gaaaatcaggcgatgataaag	0.318													8	11					0	0	1	0	0	T	70531163	C	T	70531163	2	4	81	1	0	0	0	0	0	0	0	1	2748	755	27	1		1	CCAR1	10	70531163	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	197602	70531163	65003584	7873	11489											
STOX1	219736	broad.mit.edu	37	10	70645583	70645583	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:70645583C>T	ENST00000298596.6	+	3	2114	c.2031C>T	c.(2029-2031)ggC>ggT	p.G677G	STOX1_ENST00000399169.4_Silent_p.G677G|STOX1_ENST00000421961.2_Silent_p.G567G|STOX1_ENST00000399162.2_Intron|STOX1_ENST00000399165.4_Intron	NM_152709.4	NP_689922.3	Q6ZVD7	STOX1_HUMAN	storkhead box 1	677						cytoplasm|nucleolus	DNA binding			breast(5)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|prostate(1)|skin(3)	28						ACCCAGTTGGCGTGAACCCTT	0.428													51	70					0	0	1	0	0	T	70645583	C	T	70645583	2	4	81	1	0	0	0	0	0	0	0	1	15375	755	27	1		1	STOX1	10	70645583	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	114420	70645583	64889164	7874	11490											
STOX1	219736	broad.mit.edu	37	10	70646364	70646364	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:70646364G>T	ENST00000298596.6	+	3	2895	c.2812G>T	c.(2812-2814)Gat>Tat	p.D938Y	STOX1_ENST00000399169.4_Missense_Mutation_p.D938Y|STOX1_ENST00000421961.2_Missense_Mutation_p.D828Y|STOX1_ENST00000399162.2_Intron|STOX1_ENST00000399165.4_Intron	NM_152709.4	NP_689922.3	Q6ZVD7	STOX1_HUMAN	storkhead box 1	938						cytoplasm|nucleolus	DNA binding			breast(5)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|prostate(1)|skin(3)	28						TAGTGGAATAGATTCTCCACG	0.507													21	21					7.45023e-12	9.27121e-12	1	1	0	T	70646364	G	T	70646364	3	4	81	1	0	0	0	0	1	0	0	0	15375	942	33	4	2822	4	STOX1	10	70646364	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	781	70646364	64888383	7875	11491											
STOX1	219736	broad.mit.edu	37	10	70652425	70652425	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:70652425G>A	ENST00000298596.6	+	4	2986	c.2903G>A	c.(2902-2904)gGc>gAc	p.G968D	STOX1_ENST00000399169.4_Missense_Mutation_p.G968D|STOX1_ENST00000421961.2_Missense_Mutation_p.G858D|STOX1_ENST00000399162.2_3'UTR|STOX1_ENST00000399165.4_3'UTR	NM_152709.4	NP_689922.3	Q6ZVD7	STOX1_HUMAN	storkhead box 1	968						cytoplasm|nucleolus	DNA binding			breast(5)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|prostate(1)|skin(3)	28						AATGTCGAAGGCACAAAGAGC	0.333													30	47					0	0	1	0	0	A	70652425	G	A	70652425	3	1	81	1	0	0	0	0	1	0	0	0	15375	1203	42	2	2917	2	STOX1	10	70652425	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	6061	70652425	64882322	7876	11492											
DDX21	9188	broad.mit.edu	37	10	70723131	70723131	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:70723131G>A	ENST00000354185.4	+	4	790	c.692G>A	c.(691-693)cGg>cAg	p.R231Q		NM_001256910.1|NM_004728.3	NP_001243839.1|NP_004719.2	Q9NR30	DDX21_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 21	231	Helicase ATP-binding.					nucleolus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	20						GCACAGGCACGGACAGGAACT	0.473													33	56					0	0	1	0	0	A	70723131	G	A	70723131	3	1	81	1	0	0	0	0	1	0	0	0	4372	1116	39	1	706	1	DDX21	10	70723131	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	70706	70723131	64811616	7877	11493											
DDX21	9188	broad.mit.edu	37	10	70738645	70738645	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:70738645T>C	ENST00000354185.4	+	13	2048	c.1950T>C	c.(1948-1950)atT>atC	p.I650I		NM_001256910.1|NM_004728.3	NP_001243839.1|NP_004719.2	Q9NR30	DDX21_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 21	650						nucleolus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	20						TGCCAAATATTAGTTATGCTT	0.383													11	86					0	0	1	0	0	C	70738645	T	C	70738645	2	2	81	1	0	0	0	0	0	0	0	1	4372	1742	61	3		3	DDX21	10	70738645	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	15514	70738645	64796102	7878	11494											
DDX21	9188	broad.mit.edu	37	10	70742539	70742539	+	Missense_Mutation	SNP	C	C	T	rs117087416	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:70742539C>T	ENST00000354185.4	+	15	2421	c.2323C>T	c.(2323-2325)Cgg>Tgg	p.R775W		NM_001256910.1|NM_004728.3	NP_001243839.1|NP_004719.2	Q9NR30	DDX21_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 21	775						nucleolus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	20						AGGCCAGAAGCGGAGTTTCAG	0.403													22	48					0	0	1	0	0	T	70742539	C	T	70742539	3	4	81	1	0	0	0	0	1	0	0	0	4372	759	27	1	2381	1	DDX21	10	70742539	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3894	70742539	64792208	7879	11495											
KIAA1279	26128	broad.mit.edu	37	10	70775527	70775527	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:70775527A>C	ENST00000361983.4	+	7	1323	c.1221A>C	c.(1219-1221)aaA>aaC	p.K407N		NM_015634.3	NP_056449.1	Q96EK5	KBP_HUMAN	KIAA1279	407					cell differentiation|mitochondrial transport|nervous system development	mitochondrion	kinesin binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	14						TTGAGGCAAAAGAGTTCTTTC	0.403													11	142					0	0	1	0	0	C	70775527	A	C	70775527	3	2	81	1	0	0	0	0	1	0	0	0	8263	69	3	5	1247	5	KIAA1279	10	70775527	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	32988	70775527	64759220	7880	11496											
KIAA1279	26128	broad.mit.edu	37	10	70775831	70775831	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:70775831C>A	ENST00000361983.4	+	7	1627	c.1525C>A	c.(1525-1527)Ctt>Att	p.L509I		NM_015634.3	NP_056449.1	Q96EK5	KBP_HUMAN	KIAA1279	509					cell differentiation|mitochondrial transport|nervous system development	mitochondrion	kinesin binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	14						AATAAATAATCTTAATAAGTC	0.393													7	50					0.00198382	0.00209725	1	1	0	A	70775831	C	A	70775831	3	1	81	1	0	0	0	0	1	0	0	0	8263	913	32	4	1551	4	KIAA1279	10	70775831	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	304	70775831	64758916	7881	11497											
VPS26A	9559	broad.mit.edu	37	10	70916787	70916787	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:70916787C>A	ENST00000373382.1	+	5	907	c.254C>A	c.(253-255)aCt>aAt	p.T85N	VPS26A_ENST00000541711.1_5'UTR|VPS26A_ENST00000263559.6_Missense_Mutation_p.T85N|VPS26A_ENST00000546041.1_Missense_Mutation_p.T68N|VPS26A_ENST00000490696.1_3'UTR|VPS26A_ENST00000395098.1_Missense_Mutation_p.T85N|VPS26A_ENST00000489794.1_Missense_Mutation_p.T60N			O75436	VP26A_HUMAN	vacuolar protein sorting 26 homolog A (S. pombe)	85					retrograde transport, endosome to Golgi|vacuolar transport	cytosol|endosome membrane|retromer complex|vesicle	protein binding|protein transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(2)	8						AAGAGTAATACTCATGAATTT	0.318													10	25					2.17888e-05	2.43576e-05	1	1	0	A	70916787	C	A	70916787	3	1	81	1	0	0	0	0	1	0	0	0	17257	565	20	4	268	4	VPS26A	10	70916787	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	140956	70916787	64617960	7882	11498											
SUPV3L1	6832	broad.mit.edu	37	10	70960148	70960148	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:70960148G>T	ENST00000359655.4	+	11	1471	c.1411G>T	c.(1411-1413)Gct>Tct	p.A471S		NM_003171.3	NP_003162.2	Q8IYB8	SUV3_HUMAN	suppressor of var1, 3-like 1 (S. cerevisiae)	471	Helicase C-terminal.				DNA duplex unwinding	mitochondrial nucleoid|nucleus	ATP binding|DNA binding|DNA helicase activity|RNA binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TGCTGGCAGAGCTGGCAGATT	0.408													28	64					3.11337e-16	3.99083e-16	1	1	0	T	70960148	G	T	70960148	3	4	81	1	0	0	0	0	1	0	0	0	15458	971	34	4	1453	4	SUPV3L1	10	70960148	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	43361	70960148	64574599	7883	11499											
SUPV3L1	6832	broad.mit.edu	37	10	70968443	70968443	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:70968443C>T	ENST00000359655.4	+	15	2073	c.2013C>T	c.(2011-2013)caC>caT	p.H671H		NM_003171.3	NP_003162.2	Q8IYB8	SUV3_HUMAN	suppressor of var1, 3-like 1 (S. cerevisiae)	671	Interaction with HBXIP, important for protein stability.				DNA duplex unwinding	mitochondrial nucleoid|nucleus	ATP binding|DNA binding|DNA helicase activity|RNA binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						ATGGTGTGCACAATATCACTA	0.413													26	68					0	0	1	0	0	T	70968443	C	T	70968443	2	4	81	1	0	0	0	0	0	0	0	1	15458	477	17	2		2	SUPV3L1	10	70968443	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	8295	70968443	64566304	7884	11500											
HKDC1	80201	broad.mit.edu	37	10	71016832	71016832	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:71016832A>T	ENST00000354624.5	+	13	2010	c.1877A>T	c.(1876-1878)gAc>gTc	p.D626V	HKDC1_ENST00000395086.2_Missense_Mutation_p.D626V	NM_025130.3	NP_079406	Q2TB90	HKDC1_HUMAN	hexokinase domain containing 1	626					glycolysis	mitochondrion|nucleus	ATP binding|hexokinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						AAGGCCACTGACTGTGAAGGG	0.522													10	54					0	0	1	0	0	T	71016832	A	T	71016832	3	4	81	1	0	0	0	0	1	0	0	0	7234	275	10	5	1927	5	HKDC1	10	71016832	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	48389	71016832	64517915	7885	11501											
HK1	3098	broad.mit.edu	37	10	71129352	71129352	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:71129352C>T	ENST00000448642.2	+	12	1341	c.952C>T	c.(952-954)Cgg>Tgg	p.R318W	HK1_ENST00000494253.1_3'UTR|HK1_ENST00000404387.2_Missense_Mutation_p.R287W|HK1_ENST00000298649.3_Missense_Mutation_p.R282W|HK1_ENST00000360289.2_Missense_Mutation_p.R271W|HK1_ENST00000359426.6_Missense_Mutation_p.R283W			P19367	HXK1_HUMAN	hexokinase 1	283	Regulatory.				glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane|nucleus	ATP binding|glucokinase activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(1)|urinary_tract(2)	35						GGAGATAGACCGGGGATCCCT	0.478													8	23					0	0	1	0	0	T	71129352	C	T	71129352	3	4	81	1	0	0	0	0	1	0	0	0	7231	643	23	1	1051	1	HK1	10	71129352	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	112520	71129352	64405395	7886	11502											
TACR2	6865	broad.mit.edu	37	10	71175705	71175705	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:71175705G>A	ENST00000373306.4	-	1	918	c.375C>T	c.(373-375)acC>acT	p.T125T		NM_001057.2	NP_001048.2	P21452	NK2R_HUMAN	tachykinin receptor 2	125					excretion|muscle contraction	integral to plasma membrane	tachykinin receptor activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	11					Clonidine(DB00575)|Octreotide(DB00104)	CAGCAATGGCGGTCATGGAGT	0.572													14	24					0	0	1	0	0	A	71175705	G	A	71175705	2	1	81	1	0	0	0	0	0	0	0	1	15563	1103	39	1		1	TACR2	10	71175705	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	46353	71175705	64359042	7887	11503											
SAR1A	56681	broad.mit.edu	37	10	71913627	71913627	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:71913627C>A	ENST00000373242.2	-	7	643	c.447G>T	c.(445-447)gaG>gaT	p.E149D	SAR1A_ENST00000373241.4_Missense_Mutation_p.E149D|SAR1A_ENST00000431664.2_Missense_Mutation_p.E149D|SAR1A_ENST00000458634.2_Missense_Mutation_p.E106D|SAR1A_ENST00000373238.1_Missense_Mutation_p.E149D	NM_001142648.1	NP_001136120.1	Q9NR31	SAR1A_HUMAN	SAR1 homolog A (S. cerevisiae)						ER to Golgi vesicle-mediated transport|intracellular protein transport	Golgi apparatus	GTP binding|GTPase activity			NS(1)|endometrium(1)|large_intestine(1)|lung(3)	6						GCCCAAATATCTCACGGAGTT	0.348													18	223					1.67942e-08	2.00033e-08	1	1	0	A	71913627	C	A	71913627	3	1	81	1	0	0	0	0	1	0	0	0	13892	912	32	4	157	4	SAR1A	10	71913627	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	737922	71913627	63621120	7888	11504											
SAR1A	56681	broad.mit.edu	37	10	71920819	71920819	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:71920819T>C	ENST00000373242.2	-	5	381	c.185A>G	c.(184-186)gAa>gGa	p.E62G	SAR1A_ENST00000373241.4_Missense_Mutation_p.E62G|SAR1A_ENST00000373236.1_Missense_Mutation_p.E62G|SAR1A_ENST00000431664.2_Missense_Mutation_p.E62G|SAR1A_ENST00000458634.2_Missense_Mutation_p.E19G|SAR1A_ENST00000373238.1_Missense_Mutation_p.E62G	NM_001142648.1	NP_001136120.1	Q9NR31	SAR1A_HUMAN	SAR1 homolog A (S. cerevisiae)						ER to Golgi vesicle-mediated transport|intracellular protein transport	Golgi apparatus	GTP binding|GTPase activity			NS(1)|endometrium(1)|large_intestine(1)|lung(3)	6						TGTTAGCTCTTCTGATGCTGA	0.358													12	167					0	0	1	0	0	C	71920819	T	C	71920819	3	2	81	1	0	0	0	0	1	0	0	0	13892	1783	62	3	427	3	SAR1A	10	71920819	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	7192	71920819	63613928	7889	11505											
LRRC20	55222	broad.mit.edu	37	10	72100321	72100321	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:72100321T>A	ENST00000355790.4	-	3	697	c.220A>T	c.(220-222)Agt>Tgt	p.S74C	LRRC20_ENST00000395011.1_Intron|LRRC20_ENST00000395010.1_Missense_Mutation_p.S74C|LRRC20_ENST00000358141.2_Intron|LRRC20_ENST00000373224.1_Missense_Mutation_p.S74C	NM_001278212.1|NM_001278214.1|NM_207119.1	NP_001265141.1|NP_001265143.1|NP_997002.1	Q8TCA0	LRC20_HUMAN	leucine rich repeat containing 20	74										endometrium(2)|large_intestine(4)|lung(2)|urinary_tract(1)	9						CGGAGCTGACTGAATGTGGTC	0.582													17	27					0	0	1	0	0	A	72100321	T	A	72100321	3	1	81	1	0	0	0	0	1	0	0	0	9022	1580	55	5	346	5	LRRC20	10	72100321	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	179502	72100321	63434426	7890	11506											
LRRC20	55222	broad.mit.edu	37	10	72136267	72136267	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:72136267G>A	ENST00000355790.4	-	2	500	c.23C>T	c.(22-24)gCc>gTc	p.A8V	LRRC20_ENST00000395011.1_Missense_Mutation_p.A8V|LRRC20_ENST00000395010.1_Missense_Mutation_p.A8V|LRRC20_ENST00000358141.2_Missense_Mutation_p.A8V|LRRC20_ENST00000373224.1_Missense_Mutation_p.A8V	NM_001278212.1|NM_001278214.1|NM_207119.1	NP_001265141.1|NP_001265143.1|NP_997002.1	Q8TCA0	LRC20_HUMAN	leucine rich repeat containing 20	8										endometrium(2)|large_intestine(4)|lung(2)|urinary_tract(1)	9						TCTGGCCACGGCCTCACCCAT	0.612													40	56					0	0	1	0	0	A	72136267	G	A	72136267	3	1	81	1	0	0	0	0	1	0	0	0	9022	1203	42	2	547	2	LRRC20	10	72136267	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	35946	72136267	63398480	7891	11507											
NODAL	4838	broad.mit.edu	37	10	72195499	72195499	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:72195499G>T	ENST00000420338.2	+	1	915	c.446G>T	c.(445-447)gGt>gTt	p.G149V	NODAL_ENST00000287139.3_Missense_Mutation_p.T145N																							CAAGGAAAAGGTGACCTGGGA	0.557													12	29					2.31682e-05	2.58805e-05	1	1	0	T	72195499	G	T	72195499	3	4	81	1	0	0	0	0	1	0	0	0	10565	1261	44	5	617	5	NODAL	10	72195499	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	59232	72195499	63339248	7892	11508											
ADAMTS14	140766	broad.mit.edu	37	10	72468457	72468457	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:72468457C>T	ENST00000373208.1	+	4	793	c.793C>T	c.(793-795)Ctg>Ttg	p.L265L	ADAMTS14_ENST00000373207.1_Silent_p.L265L	NM_139155.2	NP_631894.2	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 14	265	Peptidase M12B.				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						CGAGGTGCTGCTGGTGGTGGA	0.602													24	47					0	0	1	0	0	T	72468457	C	T	72468457	2	4	81	1	0	0	0	0	0	0	0	1	258	796	28	2		2	ADAMTS14	10	72468457	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	272958	72468457	63066290	7893	11509											
ADAMTS14	140766	broad.mit.edu	37	10	72511319	72511319	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:72511319G>A	ENST00000373208.1	+	17	2522	c.2522G>A	c.(2521-2523)aGc>aAc	p.S841N	ADAMTS14_ENST00000373207.1_Missense_Mutation_p.S838N	NM_139155.2	NP_631894.2	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 14	838	Spacer.				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						CTTATCGGGAGCAACAATGTG	0.637													29	42					0	0	1	0	0	A	72511319	G	A	72511319	3	1	81	1	0	0	0	0	1	0	0	0	258	971	34	2	2588	2	ADAMTS14	10	72511319	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	42862	72511319	63023428	7894	11510											
ADAMTS14	140766	broad.mit.edu	37	10	72520573	72520573	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:72520573C>T	ENST00000373208.1	+	22	3645	c.3645C>T	c.(3643-3645)ccC>ccT	p.P1215P	ADAMTS14_ENST00000373207.1_Silent_p.P1212P	NM_139155.2	NP_631894.2	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 14	1212	Pro-rich.				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						TGAGACATCCCGGCACCAGCC	0.642													10	29					0	0	1	0	0	T	72520573	C	T	72520573	2	4	81	1	0	0	0	0	0	0	0	1	258	639	23	1		1	ADAMTS14	10	72520573	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	9254	72520573	63014174	7895	11511											
SGPL1	8879	broad.mit.edu	37	10	72631635	72631635	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:72631635T>C	ENST00000373202.3	+	11	1151	c.951T>C	c.(949-951)tgT>tgC	p.C317C		NM_003901.3	NP_003892.2	O95470	SGPL1_HUMAN	sphingosine-1-phosphate lyase 1	317					apoptosis|carboxylic acid metabolic process|ceramide metabolic process|sphingolipid catabolic process	integral to endoplasmic reticulum membrane	carboxy-lyase activity|pyridoxal phosphate binding|sphinganine-1-phosphate aldolase activity			large_intestine(4)	4					Pyridoxal Phosphate(DB00114)	TCGACGCTTGTCTGGGAGGCT	0.423													12	116					0	0	1	0	0	C	72631635	T	C	72631635	2	2	81	1	0	0	0	0	0	0	0	1	14272	1673	58	3		3	SGPL1	10	72631635	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	111062	72631635	62903112	7896	11512											
SGPL1	8879	broad.mit.edu	37	10	72637079	72637080	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:72637079_72637080insA	ENST00000373202.3	+	15	1894_1895	c.1694_1695insA	c.(1693-1698)ccaaaafs	p.PK565fs		NM_003901.3	NP_003892.2	O95470	SGPL1_HUMAN	sphingosine-1-phosphate lyase 1	565					apoptosis|carboxylic acid metabolic process|ceramide metabolic process|sphingolipid catabolic process	integral to endoplasmic reticulum membrane	carboxy-lyase activity|pyridoxal phosphate binding|sphinganine-1-phosphate aldolase activity			large_intestine(4)	4					Pyridoxal Phosphate(DB00114)	AATGGTTCTCCAAAACCCCACT	0.5													8	59	---	---	---	---						A	72637080	-	A	72637079	7	5	81	1	0	1	1	0	0	0	0	0	14272	594	21	0	1748	0	SGPL1	10	72637079	Frame_Shift_Ins	INS	-	TCGA-DU-6392-01A-11D-1705-08	5444	72637079	62897668	7897	11513											
PCBD1	5092	broad.mit.edu	37	10	72644921	72644921	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:72644921G>A	ENST00000299299.3	-	3	454	c.204C>T	c.(202-204)aaC>aaT	p.N68N	PCBD1_ENST00000493228.1_5'UTR	NM_000281.2	NP_000272.1	P61457	PHS_HUMAN	pterin-4 alpha-carbinolamine dehydratase/dimerization cofactor of hepatocyte nuclear factor 1 alpha	68					L-phenylalanine catabolic process|regulation of transcription, DNA-dependent|tetrahydrobiopterin biosynthetic process|transcription, DNA-dependent	cytosol|nucleus	4-alpha-hydroxytetrahydrobiopterin dehydratase activity|identical protein binding|transcription coactivator activity			breast(1)|endometrium(2)|large_intestine(1)	4						TGTTGTACACGTTAAACCATT	0.488													24	44					0	0	1	0	0	A	72644921	G	A	72644921	2	1	81	1	0	0	0	0	0	0	0	1	11545	1136	40	1		1	PCBD1	10	72644921	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	7842	72644921	62889826	7898	11514											
UNC5B	219699	broad.mit.edu	37	10	73058900	73058900	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:73058900C>T	ENST00000335350.6	+	17	3120	c.2704C>T	c.(2704-2706)Ccc>Tcc	p.P902S	UNC5B_ENST00000373192.4_Missense_Mutation_p.P891S	NM_170744.4	NP_734465.2	Q8IZJ1	UNC5B_HUMAN	unc-5 homolog B (C. elegans)	902	Death.				apoptosis|axon guidance|regulation of apoptosis	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						CAAAGCGAGCCCCACGGGTGT	0.607													7	168					0	0	1	0	0	T	73058900	C	T	73058900	3	4	81	1	0	0	0	0	1	0	0	0	17052	623	22	2	2770	2	UNC5B	10	73058900	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	413979	73058900	62475847	7899	11515											
SLC29A3	55315	broad.mit.edu	37	10	73115972	73115972	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:73115972C>A	ENST00000373189.5	+	5	797	c.745C>A	c.(745-747)Ctg>Atg	p.L249M	SLC29A3_ENST00000469204.1_3'UTR	NM_001174098.1|NM_018344.5	NP_001167569.1|NP_060814.4	Q9BZD2	S29A3_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 3	249					nucleobase, nucleoside and nucleotide metabolic process	integral to membrane|late endosome membrane|lysosomal membrane	nucleoside transmembrane transporter activity			endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	15						GGGACTCTACCTGCTGCTGTC	0.552													14	43					2.31682e-05	2.58805e-05	1	1	0	A	73115972	C	A	73115972	3	1	81	1	0	0	0	0	1	0	0	0	14591	680	24	4	763	4	SLC29A3	10	73115972	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	57072	73115972	62418775	7900	11516											
CDH23	64072	broad.mit.edu	37	10	73206145	73206145	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:73206145G>A	ENST00000224721.6	+	2	143	c.138G>A	c.(136-138)acG>acA	p.T46T	CDH23_ENST00000461841.3_Silent_p.T91T|CDH23_ENST00000398842.3_Silent_p.T46T|CDH23_ENST00000299366.7_Silent_p.T91T|CDH23_ENST00000398809.4_Silent_p.T46T	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	46	Cadherin 1.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						GCGAGGACACGCCTGTGGGTG	0.577													15	36					0	0	1	0	0	A	73206145	G	A	73206145	2	1	81	1	0	0	0	0	0	0	0	1	3130	1074	38	1		1	CDH23	10	73206145	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	90173	73206145	62328602	7901	11517											
CDH23	64072	broad.mit.edu	37	10	73544138	73544138	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:73544138C>A	ENST00000224721.6	+	41	5483	c.5478C>A	c.(5476-5478)atC>atA	p.I1826I		NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	1821	Cadherin 17.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						ACCTGACCATCTGTGCCCGTG	0.637													23	38					3.08376e-08	3.65884e-08	1	1	0	A	73544138	C	A	73544138	2	1	81	1	0	0	0	0	0	0	0	1	3130	903	32	4		4	CDH23	10	73544138	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	337993	73544138	61990609	7902	11518											
CDH23	64072	broad.mit.edu	37	10	73562688	73562688	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:73562688C>T	ENST00000224721.6	+	53	7536	c.7531C>T	c.(7531-7533)Cgg>Tgg	p.R2511W	CDH23_ENST00000398788.3_Missense_Mutation_p.R266W|CDH23_ENST00000475158.1_3'UTR	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	2506	Cadherin 24.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						CAATGACTGCCGGCCACAGTT	0.587													15	17					0	0	1	0	0	T	73562688	C	T	73562688	3	4	81	1	0	0	0	0	1	0	0	0	3130	643	23	1	8071	1	CDH23	10	73562688	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	18550	73562688	61972059	7903	11519											
CDH23	64072	broad.mit.edu	37	10	73563013	73563013	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:73563013C>A	ENST00000224721.6	+	54	7728	c.7723C>A	c.(7723-7725)Cca>Aca	p.P2575T	CDH23_ENST00000398788.3_Missense_Mutation_p.P330T|CDH23_ENST00000475158.1_3'UTR	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	2570	Cadherin 24.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						CACACAGCGGCCACTGCAGTC	0.607													7	8					0.00307968	0.00324365	1	1	0	A	73563013	C	A	73563013	3	1	81	1	0	0	0	0	1	0	0	0	3130	739	26	5	8267	5	CDH23	10	73563013	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	325	73563013	61971734	7904	11520											
CDH23	64072	broad.mit.edu	37	10	73571132	73571132	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:73571132C>T	ENST00000224721.6	+	62	9158	c.9153C>T	c.(9151-9153)aaC>aaT	p.N3051N	CDH23_ENST00000398788.3_Silent_p.N806N|CDH23_ENST00000475158.1_3'UTR	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	3046					calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						GGAACTACAACGTCCTGGACG	0.632													6	49					0	0	1	0	0	T	73571132	C	T	73571132	2	4	81	1	0	0	0	0	0	0	0	1	3130	535	19	1		1	CDH23	10	73571132	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	8119	73571132	61963615	7905	11521											
CDH23	64072	broad.mit.edu	37	10	73571499	73571499	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:73571499C>T	ENST00000224721.6	+	64	9328	c.9323C>T	c.(9322-9324)gCt>gTt	p.A3108V	CDH23_ENST00000398788.3_Missense_Mutation_p.A863V|CDH23_ENST00000475158.1_3'UTR	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	3103					calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						GCCATTGTGGCTGGCTCAGCT	0.647													2	2					0	0	1	0	0	T	73571499	C	T	73571499	3	4	81	1	0	0	0	0	1	0	0	0	3130	797	28	2	9907	2	CDH23	10	73571499	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	367	73571499	61963248	7906	11522											
PSAP	5660	broad.mit.edu	37	10	73581732	73581732	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:73581732G>T	ENST00000394936.3	-	8	957	c.810C>A	c.(808-810)ttC>ttA	p.F270L	PSAP_ENST00000394934.1_Missense_Mutation_p.F272L			P07602	SAP_HUMAN	prosaposin	270	Saposin B-type 2.				glycosphingolipid metabolic process|lipid transport|platelet activation|platelet degranulation	extracellular space|Golgi apparatus|integral to membrane|lysosomal lumen	enzyme activator activity|lipid binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	13						CCTCATCACAGAACCCAACCA	0.567													12	28					0.0931896	0.0948862	1	1	0	T	73581732	G	T	73581732	3	4	81	1	0	0	0	0	1	0	0	0	12692	933	33	4	792	4	PSAP	10	73581732	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	10233	73581732	61953015	7907	11523											
CHST3	9469	broad.mit.edu	37	10	73767214	73767214	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:73767214G>A	ENST00000373115.4	+	3	862	c.425G>A	c.(424-426)cGc>cAc	p.R142H		NM_004273.4	NP_004264.2	Q7LGC8	CHST3_HUMAN	carbohydrate (chondroitin 6) sulfotransferase 3	142					chondroitin sulfate biosynthetic process	Golgi membrane|integral to membrane	chondroitin 6-sulfotransferase activity			endometrium(1)|lung(5)	6						GCCACCACGCGCACCGGCTCC	0.667													6	10					0	0	1	0	0	A	73767214	G	A	73767214	3	1	81	1	0	0	0	0	1	0	0	0	3427	1087	38	1	431	1	CHST3	10	73767214	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	185482	73767214	61767533	7908	11524											
CHST3	9469	broad.mit.edu	37	10	73767297	73767297	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:73767297C>T	ENST00000373115.4	+	3	945	c.508C>T	c.(508-510)Cgc>Tgc	p.R170C		NM_004273.4	NP_004264.2	Q7LGC8	CHST3_HUMAN	carbohydrate (chondroitin 6) sulfotransferase 3	170					chondroitin sulfate biosynthetic process	Golgi membrane|integral to membrane	chondroitin 6-sulfotransferase activity	p.R170C(1)		endometrium(1)|lung(5)	6						GCACATCGAGCGCACAGTGTC	0.657													7	10					0	0	1	0	0	T	73767297	C	T	73767297	3	4	81	1	0	0	0	0	1	0	0	0	3427	768	27	1	514	1	CHST3	10	73767297	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	83	73767297	61767450	7909	11525											
SPOCK2	9806	broad.mit.edu	37	10	73828040	73828040	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:73828040G>A	ENST00000373109.2	-	6	938	c.494C>T	c.(493-495)gCg>gTg	p.A165V	SPOCK2_ENST00000536168.1_Missense_Mutation_p.A165V|SPOCK2_ENST00000460053.1_5'UTR|SPOCK2_ENST00000317376.4_Missense_Mutation_p.A165V	NM_001244950.1	NP_001231879.1	Q92563	TICN2_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 2	165	Kazal-like.				extracellular matrix organization|regulation of cell differentiation|signal transduction|synapse assembly	proteinaceous extracellular matrix	calcium ion binding			endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						GCTCAGGCACGCCTGTTGCTC	0.667													6	7					0	0	1	0	0	A	73828040	G	A	73828040	3	1	81	1	0	0	0	0	1	0	0	0	15136	1087	38	1	804	1	SPOCK2	10	73828040	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	60743	73828040	61706707	7910	11526											
P4HA1	5033	broad.mit.edu	37	10	74806697	74806697	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:74806697G>T	ENST00000412021.2	-	9	1396	c.1063C>A	c.(1063-1065)Cta>Ata	p.L355I	P4HA1_ENST00000263556.3_Missense_Mutation_p.L355I|P4HA1_ENST00000394890.2_Missense_Mutation_p.L355I|P4HA1_ENST00000373008.2_Missense_Mutation_p.L355I|P4HA1_ENST00000440381.1_Missense_Mutation_p.L355I|P4HA1_ENST00000307116.2_Missense_Mutation_p.L355I	NM_001142595.1	NP_001136067.1	P13674	P4HA1_HUMAN	prolyl 4-hydroxylase, alpha polypeptide I	355						endoplasmic reticulum lumen|mitochondrion	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	15	Prostate(51;0.0198)				Hydralazine(DB01275)|L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	GGTTTTGCTAGGTCTTTGACG	0.333													22	63					1.55795e-14	1.97772e-14	1	1	0	T	74806697	G	T	74806697	3	4	81	1	0	0	0	0	1	0	0	0	11403	991	35	4	648	4	P4HA1	10	74806697	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	978657	74806697	60728050	7911	11527											
ECD	11319	broad.mit.edu	37	10	74912051	74912051	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:74912051C>A	ENST00000372979.4	-	7	1118	c.912G>T	c.(910-912)ttG>ttT	p.L304F	ECD_ENST00000454759.2_Intron|ECD_ENST00000430082.2_Splice_Site_p.L304F	NM_007265.2	NP_009196.1	O95905	SGT1_HUMAN	ecdysoneless homolog (Drosophila)	304					regulation of glycolysis|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	transcription coactivator activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Prostate(51;0.0119)					TCAACATTACCAATTTCATGC	0.428													6	60					0.000157383	0.000171784	1	1	0	A	74912051	C	A	74912051	5	1	81	1	0	0	0	0	0	0	1	0	4914	608	21	5	1157	5	ECD	10	74912051	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	105354	74912051	60622696	7912	11528											
ECD	11319	broad.mit.edu	37	10	74914148	74914148	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:74914148T>C	ENST00000372979.4	-	6	855	c.649A>G	c.(649-651)Att>Gtt	p.I217V	ECD_ENST00000454759.2_Missense_Mutation_p.I217V|ECD_ENST00000430082.2_Missense_Mutation_p.I217V	NM_007265.2	NP_009196.1	O95905	SGT1_HUMAN	ecdysoneless homolog (Drosophila)	217					regulation of glycolysis|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	transcription coactivator activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Prostate(51;0.0119)					ACTGCCACAATGCCAGCTGGA	0.473													10	24					0	0	1	0	0	C	74914148	T	C	74914148	3	2	81	1	0	0	0	0	1	0	0	0	4914	1464	51	3	1424	3	ECD	10	74914148	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	2097	74914148	60620599	7913	11529											
USP54	159195	broad.mit.edu	37	10	75335382	75335382	+	Translation_Start_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:75335382C>T	ENST00000394811.2	-	0	51				USP54_ENST00000319786.7_Missense_Mutation_p.R12H|USP54_ENST00000339859.4_Missense_Mutation_p.R12H|USP54_ENST00000428547.1_Missense_Mutation_p.R12H|USP54_ENST00000408019.1_Missense_Mutation_p.R12H			Q70EL1	UBP54_HUMAN	ubiquitin specific peptidase 54						ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity	p.R12H(1)		breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	30	Prostate(51;0.0112)					TACACTACCACGACCCCCTGA	0.453													6	77					0	0	1	0	0	T	75335382	C	T	75335382	1	4	81	1	0	0	0	0	0	0	0	0	17145	536	19	1		1	USP54	10	75335382	Translation_Start_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	421234	75335382	60199365	7914	11530											
SYNPO2L	79933	broad.mit.edu	37	10	75406793	75406793	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:75406793G>A	ENST00000394810.2	-	4	2766	c.2617C>T	c.(2617-2619)Cct>Tct	p.P873S	SYNPO2L_ENST00000372873.4_Missense_Mutation_p.P649S	NM_001114133.1	NP_001107605.1	Q9H987	SYP2L_HUMAN	synaptopodin 2-like	873	Pro-rich.					cytoplasm|cytoskeleton	actin binding			breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Prostate(51;0.0112)					GAGGCGATAGGGCCAGGAGTC	0.572													11	143					0	0	1	0	0	A	75406793	G	A	75406793	3	1	81	1	0	0	0	0	1	0	0	0	15515	1232	43	2	320	2	SYNPO2L	10	75406793	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	71411	75406793	60127954	7915	11531											
SYNPO2L	79933	broad.mit.edu	37	10	75408082	75408082	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:75408082G>T	ENST00000394810.2	-	4	1477	c.1328C>A	c.(1327-1329)cCt>cAt	p.P443H	SYNPO2L_ENST00000372873.4_Missense_Mutation_p.P219H	NM_001114133.1	NP_001107605.1	Q9H987	SYP2L_HUMAN	synaptopodin 2-like	443	Pro-rich.					cytoplasm|cytoskeleton	actin binding			breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Prostate(51;0.0112)					GCTGGCTACAGGCGCCGGCAA	0.672													8	13					0.00448238	0.00470627	1	1	0	T	75408082	G	T	75408082	3	4	81	1	0	0	0	0	1	0	0	0	15515	1000	35	4	1609	4	SYNPO2L	10	75408082	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1289	75408082	60126665	7916	11532											
SEC24C	9632	broad.mit.edu	37	10	75525889	75525889	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:75525889G>A	ENST00000339365.2	+	12	1690	c.1528G>A	c.(1528-1530)Gtc>Atc	p.V510I	SEC24C_ENST00000411652.2_Missense_Mutation_p.V391I|SEC24C_ENST00000535742.1_Intron|SEC24C_ENST00000345254.4_Missense_Mutation_p.V510I|SEC24C_ENST00000540668.1_Intron|SEC24C_ENST00000546025.1_Intron	NM_004922.3	NP_004913.2	P53992	SC24C_HUMAN	SEC24 family member C	510					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Prostate(51;0.0112)					CATGATTGACGTCTCCTACAA	0.488													34	71					0	0	1	0	0	A	75525889	G	A	75525889	3	1	81	1	0	0	0	0	1	0	0	0	14050	1145	40	1	1566	1	SEC24C	10	75525889	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	117807	75525889	60008858	7917	11533											
SEC24C	9632	broad.mit.edu	37	10	75525908	75525908	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:75525908G>T	ENST00000339365.2	+	12	1709	c.1547G>T	c.(1546-1548)aGg>aTg	p.R516M	SEC24C_ENST00000411652.2_Missense_Mutation_p.R397M|SEC24C_ENST00000535742.1_Intron|SEC24C_ENST00000345254.4_Missense_Mutation_p.R516M|SEC24C_ENST00000540668.1_Intron|SEC24C_ENST00000546025.1_Intron	NM_004922.3	NP_004913.2	P53992	SC24C_HUMAN	SEC24 family member C	516					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Prostate(51;0.0112)					AATGCCATCAGGACTGGTCTT	0.473													16	90					3.52763e-06	4.02143e-06	1	1	0	T	75525908	G	T	75525908	3	4	81	1	0	0	0	0	1	0	0	0	14050	1000	35	4	1585	4	SEC24C	10	75525908	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	19	75525908	60008839	7918	11534											
SEC24C	9632	broad.mit.edu	37	10	75528876	75528876	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:75528876A>C	ENST00000339365.2	+	18	2552	c.2390A>C	c.(2389-2391)gAt>gCt	p.D797A	SEC24C_ENST00000411652.2_Missense_Mutation_p.D678A|SEC24C_ENST00000535742.1_Missense_Mutation_p.D45A|SEC24C_ENST00000345254.4_Missense_Mutation_p.D797A|SEC24C_ENST00000540668.1_Missense_Mutation_p.D45A|SEC24C_ENST00000496827.1_3'UTR	NM_004922.3	NP_004913.2	P53992	SC24C_HUMAN	SEC24 family member C	797					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Prostate(51;0.0112)					AAGCATGACGATCGGCTCAAT	0.542													5	22					0	0	1	0	0	C	75528876	A	C	75528876	3	2	81	1	0	0	0	0	1	0	0	0	14050	333	12	4	2452	4	SEC24C	10	75528876	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	2968	75528876	60005871	7919	11535											
NDST2	8509	broad.mit.edu	37	10	75566178	75566178	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:75566178C>T	ENST00000603027.1	-	6	1926	c.1303G>A	c.(1303-1305)Gtg>Atg	p.V435M	NDST2_ENST00000309979.6_Missense_Mutation_p.V435M|NDST2_ENST00000299641.4_Missense_Mutation_p.V312M						435																	ATGGGGTACACACCCGAGTGG	0.617													18	23					0	0	1	0	0	T	75566178	C	T	75566178	3	4	81	1	0	0	0	0	1	0	0	0	10303	478	17	2	1388	2	NDST2	10	75566178	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	37302	75566178	59968569	7920	11536											
CAMK2G	818	broad.mit.edu	37	10	75585056	75585056	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:75585056G>A	ENST00000423381.1	-	16	1259	c.1136C>T	c.(1135-1137)gCg>gTg	p.A379V	CAMK2G_ENST00000305762.7_Missense_Mutation_p.A358V|CAMK2G_ENST00000322680.3_Missense_Mutation_p.A347V|CAMK2G_ENST00000372765.1_Intron|CAMK2G_ENST00000472912.1_5'UTR|CAMK2G_ENST00000351293.3_Intron|CAMK2G_ENST00000444854.2_Silent_p.R147R|CAMK2G_ENST00000322635.3_Intron|CAMK2G_ENST00000394762.2_Intron	NM_001204492.1	NP_001191421.1	Q13555	KCC2G_HUMAN	calcium/calmodulin-dependent protein kinase II gamma	358					insulin secretion|interferon-gamma-mediated signaling pathway|synaptic transmission	calcium- and calmodulin-dependent protein kinase complex|cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calcium-dependent protein serine/threonine phosphatase activity|calmodulin binding|calmodulin-dependent protein kinase activity			kidney(2)|large_intestine(2)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	15	Prostate(51;0.0112)					CTGCAAGGGCGCGGGCTCTTG	0.587													24	54					0	0	1	0	0	A	75585056	G	A	75585056	3	1	81	1	0	0	0	0	1	0	0	0	2620	1087	38	1	658	1	CAMK2G	10	75585056	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	18878	75585056	59949691	7921	11537											
CAMK2G	818	broad.mit.edu	37	10	75609093	75609094	+	Splice_Site	INS	-	-	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:75609093_75609094insA	ENST00000423381.1	-	6	465		c.e6-2		CAMK2G_ENST00000305762.7_Splice_Site|CAMK2G_ENST00000372765.1_Splice_Site|CAMK2G_ENST00000322635.3_Splice_Site|CAMK2G_ENST00000322680.3_Splice_Site|CAMK2G_ENST00000351293.3_Splice_Site|CAMK2G_ENST00000472912.1_Splice_Site|CAMK2G_ENST00000394762.2_Splice_Site|CAMK2G_ENST00000444854.2_Intron	NM_001204492.1	NP_001191421.1	Q13555	KCC2G_HUMAN	calcium/calmodulin-dependent protein kinase II gamma						insulin secretion|interferon-gamma-mediated signaling pathway|synaptic transmission	calcium- and calmodulin-dependent protein kinase complex|cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calcium-dependent protein serine/threonine phosphatase activity|calmodulin binding|calmodulin-dependent protein kinase activity			kidney(2)|large_intestine(2)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	15	Prostate(51;0.0112)					ATACAGTGGCTAAAAAAGCAGA	0.515											OREG0020267	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	22	---	---	---	---						A	75609094	-	A	75609093	8	5	81	1	0	1	1	0	0	0	1	0	2620	1536	53	0	1494	0	CAMK2G	10	75609093	Splice_Site	INS	-	TCGA-DU-6392-01A-11D-1705-08	24037	75609093	59925654	7922	11538											
PLAU	5328	broad.mit.edu	37	10	75672800	75672800	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:75672800C>A	ENST00000446342.1	+	4	743	c.261C>A	c.(259-261)taC>taA	p.Y87*	C10orf55_ENST00000409178.1_Splice_Site|PLAU_ENST00000494287.1_3'UTR|C10orf55_ENST00000412307.2_Splice_Site|PLAU_ENST00000372762.4_Nonsense_Mutation_p.Y68*|PLAU_ENST00000372764.3_Nonsense_Mutation_p.Y104*	NM_001145031.1	NP_001138503	P00749	UROK_HUMAN	plasminogen activator, urokinase	104	Kringle.				blood coagulation|chemotaxis|fibrinolysis|proteolysis|regulation of cell adhesion mediated by integrin|regulation of receptor activity|regulation of smooth muscle cell migration|regulation of smooth muscle cell-matrix adhesion|signal transduction	cell surface|extracellular space|plasma membrane	serine-type endopeptidase activity			cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(3)|ovary(2)	16	Prostate(51;0.0112)				Amiloride(DB00594)|Urokinase(DB00013)	AGCAAACGTACCATGCCCACA	0.567													21	25					3.5997e-14	4.56289e-14	1	1	0	A	75672800	C	A	75672800	4	1	81	1	0	0	0	0	0	1	0	0	12070	521	18	5	364	5	PLAU	10	75672800	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	63707	75672800	59861947	7923	11539											
AP3M1	26985	broad.mit.edu	37	10	75896419	75896419	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:75896419A>G	ENST00000355264.4	-	3	727	c.416T>C	c.(415-417)aTt>aCt	p.I139T	AP3M1_ENST00000372745.1_Missense_Mutation_p.I139T	NM_012095.4	NP_036227.1	Q9Y2T2	AP3M1_HUMAN	adaptor-related protein complex 3, mu 1 subunit	139					protein targeting to lysosome|vesicle-mediated transport	clathrin adaptor complex|Golgi apparatus|lysosome	protein binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(1)|prostate(1)|skin(1)	13	Prostate(51;0.0112)					AGAGCGTAGAATTGTTGGTGG	0.338													4	53					0	0	1	0	0	G	75896419	A	G	75896419	3	3	81	1	0	0	0	0	1	0	0	0	743	101	4	3	868	3	AP3M1	10	75896419	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	223619	75896419	59638328	7924	11540	50	2									
AP3M1	26985	broad.mit.edu	37	10	75896428	75896428	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:75896428G>T	ENST00000355264.4	-	3	718	c.407C>A	c.(406-408)cCa>cAa	p.P136Q	AP3M1_ENST00000372745.1_Missense_Mutation_p.P136Q	NM_012095.4	NP_036227.1	Q9Y2T2	AP3M1_HUMAN	adaptor-related protein complex 3, mu 1 subunit	136					protein targeting to lysosome|vesicle-mediated transport	clathrin adaptor complex|Golgi apparatus|lysosome	protein binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(1)|prostate(1)|skin(1)	13	Prostate(51;0.0112)					AATTGTTGGTGGTTTAATCAA	0.328													5	53					0.00116845	0.00124301	1	1	0	T	75896428	G	T	75896428	3	4	81	1	0	0	0	0	1	0	0	0	743	1348	47	5	877	5	AP3M1	10	75896428	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	9	75896428	59638319	7925	11541	50	2									
DUPD1	338599	broad.mit.edu	37	10	76818215	76818215	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:76818215G>A	ENST00000338487.5	-	1	57	c.58C>T	c.(58-60)Ctg>Ttg	p.L20L		NM_001003892.1	NP_001003892.1	Q68J44	DUPD1_HUMAN	dual specificity phosphatase and pro isomerase domain containing 1	20						cytoplasm	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			breast(1)|endometrium(2)|lung(5)|ovary(2)|urinary_tract(1)	11	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					TTCGGCGACAGCCTCTTGGCA	0.542													23	29					0	0	1	0	0	A	76818215	G	A	76818215	2	1	81	1	0	0	0	0	0	0	0	1	4830	962	34	2		2	DUPD1	10	76818215	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	921787	76818215	58716532	7926	11542											
DUSP13	51207	broad.mit.edu	37	10	76854614	76854614	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:76854614G>T	ENST00000491677.2	-	8	1346	c.804C>A	c.(802-804)gcC>gcA	p.A268A	DUSP13_ENST00000472493.2_Silent_p.A139A|DUSP13_ENST00000464872.1_Silent_p.A88A|DUSP13_ENST00000372700.3_Silent_p.A189A|DUSP13_ENST00000605915.1_Silent_p.A161A|DUSP13_ENST00000372702.3_3'UTR|DUSP13_ENST00000607131.1_Silent_p.A232A|DUSP13_ENST00000478873.2_Silent_p.A275A	NM_001007271.1	NP_001007272.1	Q6B8I1	MDSP_HUMAN	dual specificity phosphatase 13	130						cytoplasm	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	8	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					TTACCCCCATGGCACAGTGTA	0.592													4	20					2.56e-06	2.92664e-06	1	1	0	T	76854614	G	T	76854614	2	4	81	1	0	0	0	0	0	0	0	1	4839	1335	47	5		5	DUSP13	10	76854614	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	36399	76854614	58680133	7927	11543											
SAMD8	142891	broad.mit.edu	37	10	76924436	76924436	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:76924436G>A	ENST00000372687.4	+	3	697	c.612G>A	c.(610-612)acG>acA	p.T204T	SAMD8_ENST00000372690.3_Silent_p.T267T|SAMD8_ENST00000542569.1_Silent_p.T204T			Q96LT4	SAMD8_HUMAN	sterile alpha motif domain containing 8						sphingomyelin biosynthetic process	integral to membrane		p.T267T(1)|p.T204T(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)	12	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					TTGCCATGACGGAAGTATGTG	0.398													28	55					0	0	1	0	0	A	76924436	G	A	76924436	2	1	81	1	0	0	0	0	0	0	0	1	13877	1103	39	1		1	SAMD8	10	76924436	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	69822	76924436	58610311	7928	11544											
VDAC2	7417	broad.mit.edu	37	10	76980698	76980698	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:76980698G>T	ENST00000535553.1	+	8	793	c.437G>T	c.(436-438)aGg>aTg	p.R146M	VDAC2_ENST00000472137.1_3'UTR|VDAC2_ENST00000313132.4_Missense_Mutation_p.R200M|VDAC2_ENST00000543351.1_Missense_Mutation_p.R185M|VDAC2_ENST00000332211.6_Missense_Mutation_p.R185M			P45880	VDAC2_HUMAN	voltage-dependent anion channel 2	185						mitochondrial nucleoid|mitochondrial outer membrane|pore complex	nucleotide binding|porin activity|protein binding|voltage-gated anion channel activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(1)|ovary(1)|pancreas(2)|prostate(1)|urinary_tract(1)	10	all_cancers(46;0.0642)|all_epithelial(25;0.00604)|Prostate(51;0.0112)|Ovarian(15;0.183)				Dihydroxyaluminium(DB01375)	GTGGGCTACAGGACTGGGGAC	0.453													17	34					4.7546e-09	5.70666e-09	1	1	0	T	76980698	G	T	76980698	3	4	81	1	0	0	0	0	1	0	0	0	17207	1000	35	4	656	4	VDAC2	10	76980698	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	56262	76980698	58554049	7929	11545											
ZNF503	84858	broad.mit.edu	37	10	77142072	77142073	+	RNA	INS	-	-	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:77142072_77142073insA	ENST00000418818.2	-	0	142																											CCTTACTAAGGAAAAAATGGGA	0.342													8	19	---	---	---	---						A	77142073	-	A	77142072	6	5	81	0	1	1	1	0	0	0	0	0	18008	1189	41	0		0	ZNF503	10	77142072	RNA	INS	-	TCGA-DU-6392-01A-11D-1705-08	161374	77142072	58392675	7930	11546											
ZNF503	84858	broad.mit.edu	37	10	77158794	77158794	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:77158794G>T	ENST00000372524.4	-	2	2140	c.1654C>A	c.(1654-1656)Ctg>Atg	p.L552M	ZNF503_ENST00000535216.1_Missense_Mutation_p.L552M|RP11-399K21.11_ENST00000418818.2_lincRNA	NM_032772.4	NP_116161.2	Q96F45	ZN503_HUMAN	zinc finger protein 503	552					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			lung(4)|ovary(1)|skin(1)	6	all_cancers(46;0.105)|all_epithelial(25;0.00449)|Prostate(51;0.0112)|Ovarian(15;0.088)					TAGCCCGACAGCAGTTTGTCT	0.687													15	9					3.32936e-07	3.87413e-07	1	1	0	T	77158794	G	T	77158794	3	4	81	1	0	0	0	0	1	0	0	0	18008	962	34	4	290	4	ZNF503	10	77158794	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	16722	77158794	58375953	7931	11547											
DLG5	9231	broad.mit.edu	37	10	79603266	79603266	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:79603266G>A	ENST00000372391.2	-	6	1068	c.1063C>T	c.(1063-1065)Ctg>Ttg	p.L355L	DLG5_ENST00000372388.2_Silent_p.L355L	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	355					cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			TGCTGGGTCAGCATCTCTGTC	0.637													10	119					0	0	1	0	0	A	79603266	G	A	79603266	2	1	81	1	0	0	0	0	0	0	0	1	4586	962	34	2		2	DLG5	10	79603266	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2444472	79603266	55931481	7932	11548											
DLG5	9231	broad.mit.edu	37	10	79628942	79628942	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:79628942G>A	ENST00000372391.2	-	2	323	c.318C>T	c.(316-318)agC>agT	p.S106S	DLG5_ENST00000372388.2_Silent_p.S106S|AL391421.1_ENST00000372387.1_3'UTR	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	106					cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			TGGACAGGACGCTGTAGGTAG	0.592													22	27					0	0	1	0	0	A	79628942	G	A	79628942	2	1	81	1	0	0	0	0	0	0	0	1	4586	1078	38	1		1	DLG5	10	79628942	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	25676	79628942	55905805	7933	11549											
POLR3A	11128	broad.mit.edu	37	10	79742556	79742556	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:79742556C>A	ENST00000372371.3	-	27	3586	c.3449G>T	c.(3448-3450)aGa>aTa	p.R1150I		NM_007055.3	NP_008986.2	O14802	RPC1_HUMAN	polymerase (RNA) III (DNA directed) polypeptide A, 155kDa	1150					innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding			breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)			GATGGAATATCTCACTGTCTC	0.507													6	38					0.0215528	0.0221217	1	1	0	A	79742556	C	A	79742556	3	1	81	1	0	0	0	0	1	0	0	0	12276	913	32	4	743	4	POLR3A	10	79742556	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	113614	79742556	55792191	7934	11550											
POLR3A	11128	broad.mit.edu	37	10	79753080	79753080	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:79753080G>T	ENST00000372371.3	-	20	2799	c.2662C>A	c.(2662-2664)Ctg>Atg	p.L888M		NM_007055.3	NP_008986.2	O14802	RPC1_HUMAN	polymerase (RNA) III (DNA directed) polypeptide A, 155kDa	888					innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding			breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)			CGGACTGTCAGATCATACTGG	0.448													7	63					1.6384e-10	2.00851e-10	1	1	0	T	79753080	G	T	79753080	3	4	81	1	0	0	0	0	1	0	0	0	12276	933	33	4	1558	4	POLR3A	10	79753080	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	10524	79753080	55781667	7935	11551											
POLR3A	11128	broad.mit.edu	37	10	79777428	79777428	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:79777428A>G	ENST00000372371.3	-	10	1473	c.1336T>C	c.(1336-1338)Tat>Cat	p.Y446H	POLR3A_ENST00000484760.1_5'UTR	NM_007055.3	NP_008986.2	O14802	RPC1_HUMAN	polymerase (RNA) III (DNA directed) polypeptide A, 155kDa	446					innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding			breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)			ATGTCACCATACTTGAGCTCT	0.443													58	59					0	0	1	0	0	G	79777428	A	G	79777428	3	3	81	1	0	0	0	0	1	0	0	0	12276	391	14	3	2924	3	POLR3A	10	79777428	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	24348	79777428	55757319	7936	11552											
POLR3A	11128	broad.mit.edu	37	10	79784456	79784456	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:79784456C>T	ENST00000372371.3	-	5	633	c.496G>A	c.(496-498)Gta>Ata	p.V166I		NM_007055.3	NP_008986.2	O14802	RPC1_HUMAN	polymerase (RNA) III (DNA directed) polypeptide A, 155kDa	166					innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding			breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)			CACTTCTTTACGGTACCTATA	0.323													22	45					0	0	1	0	0	T	79784456	C	T	79784456	3	4	81	1	0	0	0	0	1	0	0	0	12276	536	19	1	3784	1	POLR3A	10	79784456	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	7028	79784456	55750291	7937	11553											
ZMIZ1	57178	broad.mit.edu	37	10	81060680	81060680	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:81060680C>T	ENST00000334512.5	+	17	2572	c.2000C>T	c.(1999-2001)aCc>aTc	p.T667I		NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	667					transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			ATCCAGATCACCGTCACGGCC	0.662													6	17					0	0	1	0	0	T	81060680	C	T	81060680	3	4	81	1	0	0	0	0	1	0	0	0	17754	507	18	2	2050	2	ZMIZ1	10	81060680	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1276224	81060680	54474067	7938	11554											
SFTPA1	653509	broad.mit.edu	37	10	81373771	81373771	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:81373771G>T	ENST00000398636.3	+	6	787	c.649G>T	c.(649-651)Gca>Tca	p.A217S	SFTPA1_ENST00000372308.3_Missense_Mutation_p.A217S|SFTPA1_ENST00000419470.2_Missense_Mutation_p.A232S|SFTPA1_ENST00000372313.5_Missense_Mutation_p.A158S|SFTPA1_ENST00000428376.2_Missense_Mutation_p.A217S	NM_001164644.1|NM_001164646.1|NM_005411.4	NP_001158116.1|NP_001158118.1|NP_005402.3	Q8IWL2	SFTA1_HUMAN	surfactant protein A1	217	C-type lectin.				cell junction assembly|respiratory gaseous exchange	collagen|extracellular space	lipid transporter activity|sugar binding			endometrium(1)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	all_cancers(46;0.197)|Breast(12;0.000326)|Prostate(51;0.00985)|all_epithelial(25;0.0149)		Epithelial(14;0.00957)|all cancers(16;0.0179)|Colorectal(32;0.229)			AGGGGAGCCCGCAGGTCGGGG	0.562													15	143					2.23348e-06	2.55658e-06	1	1	0	T	81373771	G	T	81373771	3	4	81	1	0	0	0	0	1	0	0	0	14243	1087	38	5	712	5	SFTPA1	10	81373771	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	313091	81373771	54160976	7939	11555											
ANXA11	311	broad.mit.edu	37	10	81917736	81917736	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:81917736T>C	ENST00000438331.1	-	15	1804	c.1322A>G	c.(1321-1323)aAc>aGc	p.N441S	ANXA11_ENST00000422982.3_Missense_Mutation_p.N441S|ANXA11_ENST00000360615.4_Missense_Mutation_p.N441S|ANXA11_ENST00000535999.1_Missense_Mutation_p.N441S|ANXA11_ENST00000372231.3_Missense_Mutation_p.N441S|ANXA11_ENST00000537102.1_Missense_Mutation_p.N408S|ANXA11_ENST00000265447.4_Missense_Mutation_p.N441S	NM_145869.1	NP_665876.1	P50995	ANX11_HUMAN	annexin A11	441					cell cycle|cytokinesis, completion of separation|phagocytosis|response to calcium ion	azurophil granule|melanosome|midbody|nuclear envelope|nucleoplasm|phagocytic vesicle|specific granule|spindle	calcium-dependent phospholipid binding|calcium-dependent protein binding|S100 alpha binding			endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|urinary_tract(1)	17	Prostate(51;0.00985)|all_epithelial(25;0.0951)		Colorectal(32;0.109)			CATGGCCTTGTTGAGCCTCTC	0.532													28	51					0	0	1	0	0	C	81917736	T	C	81917736	3	2	81	1	0	0	0	0	1	0	0	0	710	1725	60	3	207	3	ANXA11	10	81917736	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	543965	81917736	53617011	7940	11556											
LRIT2	340745	broad.mit.edu	37	10	85982088	85982088	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:85982088C>A	ENST00000372113.4	-	3	1246	c.1241G>T	c.(1240-1242)gGa>gTa	p.G414V	LRIT2_ENST00000538192.1_Missense_Mutation_p.G424V	NM_001017924.2	NP_001017924.1	A6NDA9	LRIT2_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 2	414	Fibronectin type-III.					integral to membrane		p.G414L(2)|p.G414V(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|prostate(6)|urinary_tract(1)	32						AGTATTGATTCCGGGGCCAAT	0.552													11	78					4.68919e-08	5.54405e-08	1	1	0	A	85982088	C	A	85982088	3	1	81	1	0	0	0	0	1	0	0	0	8993	855	30	5	415	5	LRIT2	10	85982088	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	4064352	85982088	49552659	7941	11557											
LRIT1	26103	broad.mit.edu	37	10	85997350	85997350	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:85997350C>T	ENST00000372105.3	-	2	236	c.215G>A	c.(214-216)cGc>cAc	p.R72H		NM_015613.2	NP_056428.1	Q9P2V4	LRIT1_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 1	72						integral to endoplasmic reticulum membrane				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|skin(1)	23						AGGAACCCTGCGTATGGCCGT	0.697													23	27					0	0	1	0	0	T	85997350	C	T	85997350	3	4	81	1	0	0	0	0	1	0	0	0	8992	768	27	1	1668	1	LRIT1	10	85997350	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	15262	85997350	49537397	7942	11558											
GRID1	2894	broad.mit.edu	37	10	87628915	87628915	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:87628915A>G	ENST00000327946.7	-	6	888	c.803T>C	c.(802-804)cTg>cCg	p.L268P		NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	268						cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106					L-Glutamic Acid(DB00142)	GACCAGATCCAGGATCTCCGG	0.502										Multiple Myeloma(13;0.14)			6	70					0	0	1	0	0	G	87628915	A	G	87628915	3	3	81	1	0	0	0	0	1	0	0	0	6812	188	7	3	2270	3	GRID1	10	87628915	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	1631565	87628915	47905832	7943	11559											
WAPAL	23063	broad.mit.edu	37	10	88218790	88218790	+	Silent	SNP	G	G	A	rs143256744	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:88218790G>A	ENST00000298767.5	-	12	3085	c.2613C>T	c.(2611-2613)taC>taT	p.Y871Y	WAPAL_ENST00000372075.1_Silent_p.Y138Y|WAPAL_ENST00000263070.7_Silent_p.Y138Y	NM_015045.2	NP_055860.1	Q7Z5K2	WAPL_HUMAN	wings apart-like homolog (Drosophila)	871	WAPL.				cell division|interspecies interaction between organisms|mitosis|negative regulation of chromatin binding|negative regulation of DNA replication|negative regulation of sister chromatid cohesion|protein localization to chromatin|regulation of cohesin localization to chromatin	chromatin|cohesin complex|cytoplasm	protein binding	p.Y871Y(1)		breast(2)|endometrium(2)|kidney(5)|large_intestine(6)|lung(13)|ovary(2)|stomach(1)	31						ATGCTATCAAGTAGCTTTGAT	0.284													22	44					0	0	1	0	0	A	88218790	G	A	88218790	2	1	81	1	0	0	0	0	0	0	0	1	17308	1024	36	2		2	WAPAL	10	88218790	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	589875	88218790	47315957	7944	11560											
WAPAL	23063	broad.mit.edu	37	10	88259847	88259847	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:88259847T>C	ENST00000298767.5	-	3	1625	c.1153A>G	c.(1153-1155)Act>Gct	p.T385A		NM_015045.2	NP_055860.1	Q7Z5K2	WAPL_HUMAN	wings apart-like homolog (Drosophila)	385	Mediates interaction with the cohesin complex.				cell division|interspecies interaction between organisms|mitosis|negative regulation of chromatin binding|negative regulation of DNA replication|negative regulation of sister chromatid cohesion|protein localization to chromatin|regulation of cohesin localization to chromatin	chromatin|cohesin complex|cytoplasm	protein binding			breast(2)|endometrium(2)|kidney(5)|large_intestine(6)|lung(13)|ovary(2)|stomach(1)	31						GTGGATGCAGTGAACTCATCC	0.418													23	33					0	0	1	0	0	C	88259847	T	C	88259847	3	2	81	1	0	0	0	0	1	0	0	0	17308	1696	59	3	2487	3	WAPAL	10	88259847	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	41057	88259847	47274900	7945	11561											
OPN4	94233	broad.mit.edu	37	10	88414583	88414583	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:88414583C>T	ENST00000372071.2	+	1	270	c.43C>T	c.(43-45)Caa>Taa	p.Q15*	OPN4_ENST00000241891.5_Nonsense_Mutation_p.Q15*	NM_001030015.2	NP_001025186.1	Q9UHM6	OPN4_HUMAN	opsin 4	15					phototransduction|protein-chromophore linkage|regulation of circadian rhythm|rhythmic process|visual perception	integral to membrane|plasma membrane	11-cis retinal binding|G-protein coupled photoreceptor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(5)|ovary(3)	18						CAGCCCAACCCAAGAGCCCAG	0.647													23	33					0	0	1	0	0	T	88414583	C	T	88414583	4	4	81	1	0	0	0	0	0	1	0	0	10930	595	21	2	45	2	OPN4	10	88414583	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	154736	88414583	47120164	7946	11562											
LDB3	11155	broad.mit.edu	37	10	88446979	88446979	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:88446979C>T	ENST00000429277.2	+	6	988	c.843C>T	c.(841-843)atC>atT	p.I281I	LDB3_ENST00000372056.4_Silent_p.I281I|LDB3_ENST00000458213.2_Silent_p.I166I|LDB3_ENST00000542786.1_3'UTR|LDB3_ENST00000361373.4_Intron|LDB3_ENST00000263066.6_Silent_p.I166I|LDB3_ENST00000352360.5_Intron|LDB3_ENST00000372066.3_Silent_p.I166I|LDB3_ENST00000310944.6_Intron	NM_001171610.1	NP_001165081.1	O75112	LDB3_HUMAN	LIM domain binding 3	271						cytoskeleton|perinuclear region of cytoplasm|pseudopodium	zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|soft_tissue(1)	25						AGGATGCCATCATGGATGCCA	0.632													43	74					0	0	1	0	0	T	88446979	C	T	88446979	2	4	81	1	0	0	0	0	0	0	0	1	8736	816	29	2		2	LDB3	10	88446979	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	32396	88446979	47087768	7947	11563											
LDB3	11155	broad.mit.edu	37	10	88476230	88476230	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:88476230G>A	ENST00000429277.2	+	10	1538	c.1393G>A	c.(1393-1395)Gcc>Acc	p.A465T	LDB3_ENST00000458213.2_Missense_Mutation_p.A350T|LDB3_ENST00000361373.4_Missense_Mutation_p.A460T|LDB3_ENST00000263066.6_Missense_Mutation_p.A350T|LDB3_ENST00000352360.5_Missense_Mutation_p.A203T	NM_001171610.1	NP_001165081.1	O75112	LDB3_HUMAN	LIM domain binding 3	460						cytoskeleton|perinuclear region of cytoplasm|pseudopodium	zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|soft_tissue(1)	25						cccagcaccagcctatacccc	0.687													9	19					0	0	1	0	0	A	88476230	G	A	88476230	3	1	81	1	0	0	0	0	1	0	0	0	8736	971	34	2	1748	2	LDB3	10	88476230	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	29251	88476230	47058517	7948	11564											
LDB3	11155	broad.mit.edu	37	10	88485985	88485985	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:88485985G>A	ENST00000429277.2	+	13	2230	c.2085G>A	c.(2083-2085)tgG>tgA	p.W695*	LDB3_ENST00000458213.2_Nonsense_Mutation_p.W580*|LDB3_ENST00000361373.4_Nonsense_Mutation_p.W690*|LDB3_ENST00000263066.6_Nonsense_Mutation_p.W580*|LDB3_ENST00000352360.5_Nonsense_Mutation_p.W433*	NM_001171610.1	NP_001165081.1	O75112	LDB3_HUMAN	LIM domain binding 3	690	LIM zinc-binding 3.					cytoskeleton|perinuclear region of cytoplasm|pseudopodium	zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|soft_tissue(1)	25						GCCACACTTGGCACGACACCT	0.547													11	15					0	0	1	0	0	A	88485985	G	A	88485985	4	1	81	1	0	0	0	0	0	1	0	0	8736	1212	42	2	2452	2	LDB3	10	88485985	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	9755	88485985	47048762	7949	11565											
AGAP11	119385	broad.mit.edu	37	10	88768928	88768928	+	RNA	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:88768928C>A	ENST00000444431.1	+	0	3528				RP11-96C23.14_ENST00000444180.3_RNA|RP11-96C23.5_ENST00000433214.2_RNA			Q8TF27	AGA11_HUMAN	ankyrin repeat and GTPase domain Arf GTPase activating protein 11						regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding										GAGCCAGATCCTGGCCAGCCT	0.557													9	136					1.12685e-05	1.27052e-05	1	1	0	A	88768928	C	A	88768928	1	1	81	0	1	0	0	0	0	0	0	0	366	680	24	4		4	AGAP11	10	88768928	RNA	SNP	C	TCGA-DU-6392-01A-11D-1705-08	282943	88768928	46765819	7950	11566											
AGAP11	119385	broad.mit.edu	37	10	88769219	88769219	+	RNA	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:88769219G>A	ENST00000444431.1	+	0	3819				RP11-96C23.14_ENST00000444180.3_RNA|RP11-96C23.5_ENST00000433214.2_RNA			Q8TF27	AGA11_HUMAN	ankyrin repeat and GTPase domain Arf GTPase activating protein 11						regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding										CAATGACCTAGCCAACAGCAT	0.547													62	95					0	0	1	0	0	A	88769219	G	A	88769219	1	1	81	0	1	0	0	0	0	0	0	0	366	971	34	2		2	AGAP11	10	88769219	RNA	SNP	G	TCGA-DU-6392-01A-11D-1705-08	291	88769219	46765528	7951	11567											
GLUD1	2746	broad.mit.edu	37	10	88811578	88811578	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:88811578G>A	ENST00000277865.4	-	13	1703	c.1607C>T	c.(1606-1608)aCa>aTa	p.T536I	GLUD1_ENST00000544149.1_Missense_Mutation_p.T403I|GLUD1_ENST00000537649.1_Missense_Mutation_p.T369I	NM_005271.3	NP_005262.1	P00367	DHE3_HUMAN	glutamate dehydrogenase 1	536					glutamate biosynthetic process|glutamate catabolic process|positive regulation of insulin secretion	mitochondrial matrix	ADP binding|ATP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|identical protein binding|leucine binding|NAD+ binding			endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(11)|prostate(1)	22					L-Glutamic Acid(DB00142)|NADH(DB00157)	ATAGGCAGCTGTTCTCAGGTC	0.438													41	82					0	0	1	0	0	A	88811578	G	A	88811578	3	1	81	1	0	0	0	0	1	0	0	0	6518	1377	48	2	73	2	GLUD1	10	88811578	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	42359	88811578	46723169	7952	11568											
MINPP1	9562	broad.mit.edu	37	10	89272941	89272941	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:89272941C>A	ENST00000371996.4	+	3	937	c.896C>A	c.(895-897)tCt>tAt	p.S299Y	MINPP1_ENST00000371994.4_Intron|MINPP1_ENST00000536010.1_Missense_Mutation_p.S98Y	NM_004897.4	NP_004888.2	Q9UNW1	MINP1_HUMAN	multiple inositol-polyphosphate phosphatase 1	299					bone mineralization|polyphosphate metabolic process	endoplasmic reticulum lumen	acid phosphatase activity|bisphosphoglycerate 3-phosphatase activity|multiple inositol-polyphosphate phosphatase activity|phosphohistidine phosphatase activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|urinary_tract(2)	5		Colorectal(252;0.122)		UCEC - Uterine corpus endometrioid carcinoma (6;0.00123)		GGTGTTAAATCTCCTTGGTGT	0.313													6	64					0.000274275	0.000297259	1	1	0	A	89272941	C	A	89272941	3	1	81	1	0	0	0	0	1	0	0	0	9636	913	32	4	944	4	MINPP1	10	89272941	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	461363	89272941	46261806	7953	11569											
ATAD1	84896	broad.mit.edu	37	10	89544250	89544250	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:89544250G>A	ENST00000308448.7	-	5	938	c.560C>T	c.(559-561)tCc>tTc	p.S187F	ATAD1_ENST00000328142.3_Missense_Mutation_p.S187F|ATAD1_ENST00000400215.3_Missense_Mutation_p.S129F|ATAD1_ENST00000541004.1_Missense_Mutation_p.S187F	NM_032810.2	NP_116199.2	Q8NBU5	ATAD1_HUMAN	ATPase family, AAA domain containing 1	187						peroxisome	ATP binding|nucleoside-triphosphatase activity			kidney(1)|large_intestine(4)|lung(4)|ovary(1)	10		all_cancers(4;6.78e-12)|Prostate(4;3.56e-12)|all_epithelial(4;5.58e-09)|Melanoma(5;0.0273)|Breast(4;0.0424)|all_hematologic(4;0.0846)|Colorectal(252;0.207)|Glioma(4;0.217)|all_neural(4;0.224)		UCEC - Uterine corpus endometrioid carcinoma (6;0.00131)|GBM - Glioblastoma multiforme(1;1.1e-32)|Lung(2;1.4e-05)|LUSC - Lung squamous cell carcinoma(2;2.69e-05)|Colorectal(12;7.09e-05)|COAD - Colon adenocarcinoma(12;0.000261)|STAD - Stomach adenocarcinoma(243;0.235)		AAAGATGATGGATGGTTGTAG	0.348													39	58					0	0	1	0	0	A	89544250	G	A	89544250	3	1	81	1	0	0	0	0	1	0	0	0	1069	1174	41	2	549	2	ATAD1	10	89544250	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	271309	89544250	45990497	7954	11570											
PTEN	5728	broad.mit.edu	37	10	89692973	89692973	+	Missense_Mutation	SNP	G	G	T	rs9651492		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:89692973G>T	ENST00000371953.3	+	5	1814	c.457G>T	c.(457-459)Gat>Tat	p.D153Y		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	153	Phosphatase tensin-type.				activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.?(5)|p.R55fs*1(5)|p.Y27fs*1(2)|p.D153Y(2)|p.D153N(1)|p.D153fs*27(1)|p.F56fs*2(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		AGAGGCCCTAGATTTCTATGG	0.378		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			28	57					7.26314e-15	9.23631e-15	1	1	0	T	89692973	G	T	89692973	3	4	81	1	0	0	0	0	1	0	0	0	12787	942	33	4	475	4	PTEN	10	89692973	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	148723	89692973	45841774	7955	11571											
LIPK	643414	broad.mit.edu	37	10	90486579	90486579	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:90486579C>T	ENST00000404190.1	+	2	133	c.133C>T	c.(133-135)Cct>Tct	p.P45S		NM_001080518.1	NP_001073987.1	Q5VXJ0	LIPK_HUMAN	lipase, family member K	45					lipid catabolic process	extracellular region	hydrolase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)	12		Colorectal(252;0.0381)		Colorectal(12;7.03e-05)|COAD - Colon adenocarcinoma(12;8.33e-05)		CTGGGGTTATCCTTATGAAGA	0.328													3	10					0	0	1	0	0	T	90486579	C	T	90486579	3	4	81	1	0	0	0	0	1	0	0	0	8868	855	30	2	139	2	LIPK	10	90486579	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	793606	90486579	45048168	7956	11572											
LIPN	643418	broad.mit.edu	37	10	90526114	90526114	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:90526114C>T	ENST00000404459.1	+	4	514	c.514C>T	c.(514-516)Cat>Tat	p.H172Y		NM_001102469.1	NP_001095939.1	Q5VXI9	LIPN_HUMAN	lipase, family member N	172					lipid catabolic process	extracellular region	hydrolase activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(1)|skin(1)	9		Colorectal(252;0.0161)		Colorectal(12;4.83e-05)|COAD - Colon adenocarcinoma(12;6.5e-05)		TTTCATTGGACATTCACTTGG	0.363													20	51					0	0	1	0	0	T	90526114	C	T	90526114	3	4	81	1	0	0	0	0	1	0	0	0	8869	478	17	2	528	2	LIPN	10	90526114	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	39535	90526114	45008633	7957	11573											
ACTA2	59	broad.mit.edu	37	10	90701149	90701149	+	Splice_Site	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:90701149T>C	ENST00000458208.1	-	6	929		c.e6-2		STAMBPL1_ENST00000371927.3_Intron|ACTA2_ENST00000480297.1_Splice_Site|ACTA2_ENST00000224784.6_Splice_Site	NM_001141945.1	NP_001135417.1	P62736	ACTA_HUMAN	actin, alpha 2, smooth muscle, aorta						response to virus	cytosol	ATP binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|skin(1)|urinary_tract(2)	17		Colorectal(252;0.0161)		Colorectal(12;0.000123)|COAD - Colon adenocarcinoma(12;0.00018)		GCACGATGCCTGGGAGACAAT	0.567													5	35					0	0	1	0	0	C	90701149	T	C	90701149	5	2	81	1	0	0	0	0	0	0	1	0	192	1594	55	3	696	3	ACTA2	10	90701149	Splice_Site	SNP	T	TCGA-DU-6392-01A-11D-1705-08	175035	90701149	44833598	7958	11574											
FAS	355	broad.mit.edu	37	10	90770572	90770572	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:90770572G>T	ENST00000355740.2	+	6	788	c.568G>T	c.(568-570)Gtg>Ttg	p.V190L	FAS_ENST00000313771.5_3'UTR|FAS_ENST00000352159.4_Splice_Site_p.V190L|FAS_ENST00000357339.2_Intron|FAS_ENST00000355279.2_Splice_Site_p.V190L	NM_000043.4|NM_152871.2|NM_152872.2	NP_000034.1|NP_690610.1|NP_690611.1	P25445	TNR6_HUMAN	Fas cell surface death receptor	190					activation of caspase activity|activation of pro-apoptotic gene products|anti-apoptosis|cellular response to mechanical stimulus|positive regulation of necrotic cell death	cytosol|extracellular region|integral to membrane|soluble fraction	identical protein binding|kinase binding			breast(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(2)	18		Colorectal(252;0.0161)		Colorectal(12;0.000136)|COAD - Colon adenocarcinoma(12;0.000193)		AATTGTTTGGGGTAAGTTCTT	0.363													14	181					0.000308642	0.000334385	1	1	0	T	90770572	G	T	90770572	5	4	81	1	0	0	0	0	0	0	1	0	5714	1246	43	5	590	5	FAS	10	90770572	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	69423	90770572	44764175	7959	11575											
CH25H	9023	broad.mit.edu	37	10	90966941	90966941	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:90966941G>A	ENST00000371852.2	-	1	130	c.109C>T	c.(109-111)Ccc>Tcc	p.P37S		NM_003956.3	NP_003947.1	O95992	CH25H_HUMAN	cholesterol 25-hydroxylase	37					bile acid biosynthetic process|fatty acid biosynthetic process|sterol biosynthetic process	cytosol|endoplasmic reticulum membrane|integral to membrane	cholesterol 25-hydroxylase activity|iron ion binding			kidney(1)|large_intestine(2)|lung(3)|stomach(1)	7		Colorectal(252;0.0161)		GBM - Glioblastoma multiforme(2;0.000133)		GGGAAGAAGGGCGACTGTAGG	0.647													4	6					0	0	1	0	0	A	90966941	G	A	90966941	3	1	81	1	0	0	0	0	1	0	0	0	3329	1203	42	2	713	2	CH25H	10	90966941	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	196369	90966941	44567806	7960	11576											
LIPA	3988	broad.mit.edu	37	10	90984859	90984859	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:90984859T>C	ENST00000336233.5	-	6	987	c.665A>G	c.(664-666)cAt>cGt	p.H222R	LIPA_ENST00000456827.1_Missense_Mutation_p.H222R|LIPA_ENST00000371837.1_Missense_Mutation_p.H166R			P38571	LICH_HUMAN	lipase A, lysosomal acid, cholesterol esterase	222					lipid catabolic process	lysosome	lipase activity|sterol esterase activity			endometrium(1)|large_intestine(2)|lung(3)	6		Colorectal(252;0.0162)		GBM - Glioblastoma multiforme(2;0.00406)		CTTAATGAGATGATCTGGTAA	0.498													29	322					0	0	1	0	0	C	90984859	T	C	90984859	3	2	81	1	0	0	0	0	1	0	0	0	8860	1464	51	3	554	3	LIPA	10	90984859	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	17918	90984859	44549888	7961	11577											
LIPA	3988	broad.mit.edu	37	10	90984986	90984986	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:90984986C>A	ENST00000336233.5	-	6	861		c.e6-1		LIPA_ENST00000456827.1_Splice_Site|LIPA_ENST00000371837.1_Splice_Site			P38571	LICH_HUMAN	lipase A, lysosomal acid, cholesterol esterase						lipid catabolic process	lysosome	lipase activity|sterol esterase activity			endometrium(1)|large_intestine(2)|lung(3)	6		Colorectal(252;0.0162)		GBM - Glioblastoma multiforme(2;0.00406)		GCTATAAAACCTGTGAGAACA	0.488													11	194					3.86212e-05	4.27865e-05	1	1	0	A	90984986	C	A	90984986	5	1	81	1	0	0	0	0	0	0	1	0	8860	695	24	4	681	4	LIPA	10	90984986	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	127	90984986	44549761	7962	11578											
IFIT2	3433	broad.mit.edu	37	10	91066262	91066262	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:91066262C>A	ENST00000371826.3	+	2	718	c.549C>A	c.(547-549)taC>taA	p.Y183*	LIPA_ENST00000371837.1_Intron|LIPA_ENST00000487618.1_Intron	NM_001547.4	NP_001538.4	P09913	IFIT2_HUMAN	interferon-induced protein with tetratricopeptide repeats 2	183					negative regulation of protein binding|response to virus|type I interferon-mediated signaling pathway		protein binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|skin(1)	12		Colorectal(252;0.0161)				TAGCAAGCTACCGTCTGGACA	0.507													13	31					0.00010058	0.000110448	1	1	0	A	91066262	C	A	91066262	4	1	81	1	0	0	0	0	0	1	0	0	7567	518	18	5	555	5	IFIT2	10	91066262	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	81276	91066262	44468485	7963	11579											
IFIT2	3433	broad.mit.edu	37	10	91066350	91066350	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:91066350G>A	ENST00000371826.3	+	2	806	c.637G>A	c.(637-639)Gtc>Atc	p.V213I	LIPA_ENST00000371837.1_Intron|LIPA_ENST00000487618.1_Intron	NM_001547.4	NP_001538.4	P09913	IFIT2_HUMAN	interferon-induced protein with tetratricopeptide repeats 2	213					negative regulation of protein binding|response to virus|type I interferon-mediated signaling pathway		protein binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|skin(1)	12		Colorectal(252;0.0161)				GTACCTTAAAGTCCTCCTGGC	0.502													17	32					0	0	1	0	0	A	91066350	G	A	91066350	3	1	81	1	0	0	0	0	1	0	0	0	7567	1029	36	2	643	2	IFIT2	10	91066350	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	88	91066350	44468397	7964	11580											
IFIT2	3433	broad.mit.edu	37	10	91066650	91066650	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:91066650C>A	ENST00000371826.3	+	2	1106	c.937C>A	c.(937-939)Ctg>Atg	p.L313M	LIPA_ENST00000371837.1_Intron|LIPA_ENST00000487618.1_Intron	NM_001547.4	NP_001538.4	P09913	IFIT2_HUMAN	interferon-induced protein with tetratricopeptide repeats 2	313					negative regulation of protein binding|response to virus|type I interferon-mediated signaling pathway		protein binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|skin(1)	12		Colorectal(252;0.0161)				AAGAAAGTTACTGGAACTAAT	0.443													33	56					4.3181e-19	5.61734e-19	1	1	0	A	91066650	C	A	91066650	3	1	81	1	0	0	0	0	1	0	0	0	7567	564	20	4	943	4	IFIT2	10	91066650	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	300	91066650	44468097	7965	11581											
IFIT3	3437	broad.mit.edu	37	10	91098617	91098617	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:91098617G>A	ENST00000371818.4	+	2	385	c.205G>A	c.(205-207)Gca>Aca	p.A69T	LIPA_ENST00000371837.1_Intron|LIPA_ENST00000487618.1_Intron|IFIT3_ENST00000371811.4_Missense_Mutation_p.A69T	NM_001549.4	NP_001540.2	O14879	IFIT3_HUMAN	interferon-induced protein with tetratricopeptide repeats 3	69					type I interferon-mediated signaling pathway		protein binding			breast(1)|central_nervous_system(3)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)|urinary_tract(1)	15						TAACAACGAGGCAGCCCTGGA	0.428													38	47					0	0	1	0	0	A	91098617	G	A	91098617	3	1	81	1	0	0	0	0	1	0	0	0	7568	1203	42	2	220	2	IFIT3	10	91098617	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	31967	91098617	44436130	7966	11582											
IFIT1B	439996	broad.mit.edu	37	10	91144325	91144325	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:91144325C>A	ENST00000371809.3	+	2	1335	c.1255C>A	c.(1255-1257)Ctc>Atc	p.L419I	LIPA_ENST00000371837.1_Intron	NM_001010987.2	NP_001010987.1	Q5T764	IFT1B_HUMAN	interferon-induced protein with tetratricopeptide repeats 1B	419							binding			endometrium(2)|large_intestine(3)|lung(8)	13						GGAAAAACTTCTCAATGCTTT	0.373													13	128					7.93312e-07	9.15943e-07	1	1	0	A	91144325	C	A	91144325	3	1	81	1	0	0	0	0	1	0	0	0	7566	913	32	4	1261	4	IFIT1B	10	91144325	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	45708	91144325	44390422	7967	11583											
IFIT1	3434	broad.mit.edu	37	10	91163009	91163009	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:91163009T>C	ENST00000546318.1	+	2	2171	c.884T>C	c.(883-885)aTa>aCa	p.I295T	LIPA_ENST00000371837.1_Intron|IFIT1_ENST00000371804.3_Missense_Mutation_p.I326T	NM_001270928.1|NM_001270929.1|NM_001270930.1	NP_001257857.1|NP_001257858.1|NP_001257859.1	P09914	IFIT1_HUMAN	interferon-induced protein with tetratricopeptide repeats 1	326					cellular response to exogenous dsRNA|intracellular transport of viral proteins in host cell|negative regulation of defense response to virus by host|negative regulation of helicase activity|negative regulation of protein binding|negative regulation of viral genome replication|positive regulation of viral genome replication|response to virus|type I interferon-mediated signaling pathway	cytoplasm	protein binding			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)	15						AGATCAGCCATATTTCATTTT	0.418													8	39					0	0	1	0	0	C	91163009	T	C	91163009	3	2	81	1	0	0	0	0	1	0	0	0	7565	1406	49	3	983	3	IFIT1	10	91163009	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	18684	91163009	44371738	7968	11584											
IFIT5	24138	broad.mit.edu	37	10	91177747	91177747	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:91177747C>A	ENST00000371795.4	+	2	1004	c.791C>A	c.(790-792)tCc>tAc	p.S264Y	IFIT5_ENST00000416601.1_Missense_Mutation_p.S216Y	NM_012420.2	NP_036552.1	Q13325	IFIT5_HUMAN	interferon-induced protein with tetratricopeptide repeats 5	264							binding			endometrium(1)|large_intestine(4)|lung(4)	9						AGAAAAAATTCCTGGAACAAA	0.433													8	63					3.09899e-07	3.60815e-07	1	1	0	A	91177747	C	A	91177747	3	1	81	1	0	0	0	0	1	0	0	0	7569	855	30	5	797	5	IFIT5	10	91177747	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	14738	91177747	44357000	7969	11585											
KIF20B	9585	broad.mit.edu	37	10	91484805	91484805	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:91484805T>C	ENST00000416354.1	+	15	1963	c.1891T>C	c.(1891-1893)Tta>Cta	p.L631L	KIF20B_ENST00000371728.3_Silent_p.L631L|KIF20B_ENST00000394289.2_Silent_p.L631L|KIF20B_ENST00000478929.1_3'UTR|KIF20B_ENST00000260753.4_Silent_p.L631L			Q96Q89	KI20B_HUMAN	kinesin family member 20B	631					cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis	centrosome|microtubule|nucleolus|nucleoplasm|spindle	ATP binding|ATPase activity|microtubule motor activity|WW domain binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						ACGAGAGATATTAGAAGAAAA	0.358													39	49					0	0	1	0	0	C	91484805	T	C	91484805	2	2	81	1	0	0	0	0	0	0	0	1	8329	1490	52	3		3	KIF20B	10	91484805	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	307058	91484805	44049942	7970	11586											
KIF20B	9585	broad.mit.edu	37	10	91518496	91518496	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:91518496A>G	ENST00000416354.1	+	27	4699	c.4627A>G	c.(4627-4629)Agt>Ggt	p.S1543G	KIF20B_ENST00000371728.3_Missense_Mutation_p.S1513G|KIF20B_ENST00000394289.2_Missense_Mutation_p.S1513G|KIF20B_ENST00000478929.1_3'UTR|KIF20B_ENST00000260753.4_Missense_Mutation_p.S1473G			Q96Q89	KI20B_HUMAN	kinesin family member 20B	1513					cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis	centrosome|microtubule|nucleolus|nucleoplasm|spindle	ATP binding|ATPase activity|microtubule motor activity|WW domain binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						AGAGAAAGATAGTGACCTTCA	0.338													6	14					0	0	1	0	0	G	91518496	A	G	91518496	3	3	81	1	0	0	0	0	1	0	0	0	8329	420	15	3	4519	3	KIF20B	10	91518496	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	33691	91518496	44016251	7971	11587											
HTR7	3363	broad.mit.edu	37	10	92508915	92508915	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:92508915C>T	ENST00000371721.3	-	2	1218	c.976G>A	c.(976-978)Gcc>Acc	p.A326T	HTR7_ENST00000336152.3_Missense_Mutation_p.A326T|HTR7_ENST00000277874.6_Missense_Mutation_p.A326T|HTR7_ENST00000371719.2_Missense_Mutation_p.A326T			P34969	5HT7R_HUMAN	5-hydroxytryptamine (serotonin) receptor 7, adenylate cyclase-coupled	326					blood circulation|circadian rhythm	integral to plasma membrane	protein binding|serotonin receptor activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30					Eletriptan(DB00216)|Methysergide(DB00247)|Ziprasidone(DB00246)	AGGGTGGTGGCTGCTTTCTGT	0.527													15	24					0	0	1	0	0	T	92508915	C	T	92508915	3	4	81	1	0	0	0	0	1	0	0	0	7496	797	28	2	479	2	HTR7	10	92508915	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	990419	92508915	43025832	7972	11588											
PCGF5	84333	broad.mit.edu	37	10	93008278	93008278	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:93008278G>T	ENST00000336126.5	+	4	458	c.226G>T	c.(226-228)Gag>Tag	p.E76*	PCGF5_ENST00000543648.1_Nonsense_Mutation_p.E76*	NM_001257101.1|NM_032373.4	NP_001244030.1|NP_115749.2	Q86SE9	PCGF5_HUMAN	polycomb group ring finger 5	76					regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|PcG protein complex	zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)	12						CAATACATTAGAGGAAATTAT	0.353													15	109					3.45872e-05	3.85959e-05	1	1	0	T	93008278	G	T	93008278	4	4	81	1	0	0	0	0	0	1	0	0	11624	943	33	4	236	4	PCGF5	10	93008278	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	499363	93008278	42526469	7973	11589											
PCGF5	84333	broad.mit.edu	37	10	93008308	93008308	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:93008308C>T	ENST00000336126.5	+	4	488	c.256C>T	c.(256-258)Cta>Tta	p.L86L	PCGF5_ENST00000543648.1_Silent_p.L86L	NM_001257101.1|NM_032373.4	NP_001244030.1|NP_115749.2	Q86SE9	PCGF5_HUMAN	polycomb group ring finger 5	86					regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|PcG protein complex	zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)	12						GGTCCCTGGACTACGAGAACG	0.353													7	120					0	0	1	0	0	T	93008308	C	T	93008308	2	4	81	1	0	0	0	0	0	0	0	1	11624	564	20	2		2	PCGF5	10	93008308	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	30	93008308	42526439	7974	11590											
HECTD2	143279	broad.mit.edu	37	10	93260258	93260258	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:93260258G>T	ENST00000446394.1	+	20	2062		c.e20-1		HECTD2_ENST00000536715.1_Splice_Site|HECTD2_ENST00000298068.5_Splice_Site|HECTD2_ENST00000371667.1_Splice_Site	NM_001284274.1	NP_001271203.1	Q5U5R9	HECD2_HUMAN	HECT domain containing E3 ubiquitin protein ligase 2						protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity			breast(2)|endometrium(2)|kidney(4)|large_intestine(10)|lung(7)|skin(1)|urinary_tract(1)	27						ATTATTGGCAGCTGCTTCGTC	0.363													4	40					0.00909568	0.00944708	1	1	0	T	93260258	G	T	93260258	5	4	81	1	0	0	0	0	0	0	1	0	7081	985	34	4	2048	4	HECTD2	10	93260258	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	251950	93260258	42274489	7975	11591											
HECTD2	143279	broad.mit.edu	37	10	93260993	93260993	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:93260993G>T	ENST00000446394.1	+	21	2224	c.2124G>T	c.(2122-2124)aaG>aaT	p.K708N	HECTD2_ENST00000536715.1_Missense_Mutation_p.K293N|HECTD2_ENST00000298068.5_Missense_Mutation_p.K704N|HECTD2_ENST00000371667.1_Missense_Mutation_p.K354N	NM_001284274.1	NP_001271203.1	Q5U5R9	HECD2_HUMAN	HECT domain containing E3 ubiquitin protein ligase 2	704	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity			breast(2)|endometrium(2)|kidney(4)|large_intestine(10)|lung(7)|skin(1)|urinary_tract(1)	27						ATCTTCAAAAGAAGTTGCTAC	0.348													30	52					1.2476e-16	1.60284e-16	1	1	0	T	93260993	G	T	93260993	3	4	81	1	0	0	0	0	1	0	0	0	7081	933	33	4	2214	4	HECTD2	10	93260993	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	735	93260993	42273754	7976	11592											
PPP1R3C	5507	broad.mit.edu	37	10	93390465	93390465	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:93390465A>G	ENST00000238994.5	-	2	257	c.173T>C	c.(172-174)cTg>cCg	p.L58P		NM_005398.5	NP_005389.1	Q9UQK1	PPR3C_HUMAN	protein phosphatase 1, regulatory subunit 3C	58							protein serine/threonine phosphatase activity			breast(1)|endometrium(1)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(1)	12		Colorectal(252;0.235)				ACATGATTTCAGGGGCTTTAA	0.448													12	173					0	0	1	0	0	G	93390465	A	G	93390465	3	3	81	1	0	0	0	0	1	0	0	0	12422	188	7	3	784	3	PPP1R3C	10	93390465	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	129472	93390465	42144282	7977	11593											
TNKS2	80351	broad.mit.edu	37	10	93590921	93590921	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:93590921G>T	ENST00000371627.4	+	11	1637	c.1258G>T	c.(1258-1260)Gtg>Ttg	p.V420L		NM_025235.3	NP_079511.1	Q9H2K2	TNKS2_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 2	420					positive regulation of canonical Wnt receptor signaling pathway|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein polyubiquitination|Wnt receptor signaling pathway	Golgi membrane|microsome|nuclear envelope|pericentriolar material|perinuclear region of cytoplasm	NAD+ ADP-ribosyltransferase activity|protein binding			biliary_tract(1)|breast(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	48		Colorectal(252;0.162)				TGAAGTAGTGGTGAAACATGA	0.353													5	154					0.0215528	0.0221217	1	1	0	T	93590921	G	T	93590921	3	4	81	1	0	0	0	0	1	0	0	0	16381	1261	44	5	1300	5	TNKS2	10	93590921	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	200456	93590921	41943826	7978	11594											
TNKS2	80351	broad.mit.edu	37	10	93619382	93619382	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:93619382C>T	ENST00000371627.4	+	25	3637	c.3258C>T	c.(3256-3258)gaC>gaT	p.D1086D		NM_025235.3	NP_079511.1	Q9H2K2	TNKS2_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 2	1086	PARP catalytic.				positive regulation of canonical Wnt receptor signaling pathway|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein polyubiquitination|Wnt receptor signaling pathway	Golgi membrane|microsome|nuclear envelope|pericentriolar material|perinuclear region of cytoplasm	NAD+ ADP-ribosyltransferase activity|protein binding			biliary_tract(1)|breast(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	48		Colorectal(252;0.162)				TTCACAAAGACAGATCTTGTT	0.373													17	43					0	0	1	0	0	T	93619382	C	T	93619382	2	4	81	1	0	0	0	0	0	0	0	1	16381	477	17	2		2	TNKS2	10	93619382	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	28461	93619382	41915365	7979	11595											
BTAF1	9044	broad.mit.edu	37	10	93743997	93743997	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:93743997C>T	ENST00000265990.6	+	19	2571	c.2263C>T	c.(2263-2265)Ctt>Ttt	p.L755F	BTAF1_ENST00000471217.1_3'UTR	NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa	755					negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				GCCGCGTTTACTTGATATCCT	0.338													21	29					0	0	1	0	0	T	93743997	C	T	93743997	3	4	81	1	0	0	0	0	1	0	0	0	1538	565	20	2	2337	2	BTAF1	10	93743997	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	124615	93743997	41790750	7980	11596											
BTAF1	9044	broad.mit.edu	37	10	93768689	93768689	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:93768689C>T	ENST00000265990.6	+	27	4225	c.3917C>T	c.(3916-3918)gCa>gTa	p.A1306V	BTAF1_ENST00000544642.1_Missense_Mutation_p.A134V	NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa	1306	Helicase ATP-binding.				negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				TGCATTCTAGCAGGAGATCAT	0.328													13	72					0	0	1	0	0	T	93768689	C	T	93768689	3	4	81	1	0	0	0	0	1	0	0	0	1538	710	25	2	4023	2	BTAF1	10	93768689	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	24692	93768689	41766058	7981	11597											
BTAF1	9044	broad.mit.edu	37	10	93784717	93784717	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:93784717G>A	ENST00000265990.6	+	35	5376	c.5068G>A	c.(5068-5070)Gtt>Att	p.V1690I	BTAF1_ENST00000544642.1_Missense_Mutation_p.V518I	NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa	1690	Helicase C-terminal.				negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				GCATTCCATTGTTTCCCGGTA	0.373													10	79					0	0	1	0	0	A	93784717	G	A	93784717	3	1	81	1	0	0	0	0	1	0	0	0	1538	1377	48	2	5206	2	BTAF1	10	93784717	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	16028	93784717	41750030	7982	11598											
BTAF1	9044	broad.mit.edu	37	10	93786957	93786957	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:93786957A>G	ENST00000265990.6	+	37	5614	c.5306A>G	c.(5305-5307)aAa>aGa	p.K1769R	BTAF1_ENST00000544642.1_Missense_Mutation_p.K597R	NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa	1769	Helicase C-terminal.				negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				GGGTTGCAGAAATTCAAGATG	0.378													18	96					0	0	1	0	0	G	93786957	A	G	93786957	3	3	81	1	0	0	0	0	1	0	0	0	1538	14	1	3	5452	3	BTAF1	10	93786957	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	2240	93786957	41747790	7983	11599											
CPEB3	22849	broad.mit.edu	37	10	93940768	93940768	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:93940768C>T	ENST00000412050.4	-	4	1193	c.1105G>A	c.(1105-1107)Ggg>Agg	p.G369R	CPEB3_ENST00000265997.4_Missense_Mutation_p.G392R	NM_001178137.1	NP_001171608.1	Q8NE35	CPEB3_HUMAN	cytoplasmic polyadenylation element binding protein 3	392							nucleotide binding|RNA binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(2)	18		Colorectal(252;0.0869)				AAATTTATCCCCATGCGTCCt	0.259													10	55					0	0	1	0	0	T	93940768	C	T	93940768	3	4	81	1	0	0	0	0	1	0	0	0	3825	623	22	2	977	2	CPEB3	10	93940768	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	153811	93940768	41593979	7984	11600											
CPEB3	22849	broad.mit.edu	37	10	93999628	93999628	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:93999628G>T	ENST00000412050.4	-	2	568	c.480C>A	c.(478-480)acC>acA	p.T160T	CPEB3_ENST00000265997.4_Silent_p.T160T	NM_001178137.1	NP_001171608.1	Q8NE35	CPEB3_HUMAN	cytoplasmic polyadenylation element binding protein 3	160	Pro-rich.						nucleotide binding|RNA binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(2)	18		Colorectal(252;0.0869)				GGTGGTGCTGGGTCTGCGCCA	0.711													6	10					0.000157383	0.000171784	1	1	0	T	93999628	G	T	93999628	2	4	81	1	0	0	0	0	0	0	0	1	3825	1219	43	5		5	CPEB3	10	93999628	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	58860	93999628	41535119	7985	11601											
MARCH5	54708	broad.mit.edu	37	10	94109579	94109579	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:94109579A>G	ENST00000358935.2	+	5	1037	c.705A>G	c.(703-705)ttA>ttG	p.L235L		NM_017824.4	NP_060294.1	Q9NX47	MARH5_HUMAN	membrane-associated ring finger (C3HC4) 5	235					cell aging|protein autoubiquitination|protein localization in mitochondrion|protein polyubiquitination|regulation of mitochondrial fission	endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane	GTPase binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	9						ACTCTAATTTACAAAGGACAA	0.343													40	68					0	0	1	0	0	G	94109579	A	G	94109579	2	3	81	1	0	0	0	0	0	0	0	1	9354	388	14	3		3	MARCH5	10	94109579	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	109951	94109579	41425168	7986	11602											
IDE	3416	broad.mit.edu	37	10	94214257	94214257	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:94214257G>A	ENST00000265986.6	-	25	3060	c.3004C>T	c.(3004-3006)Ctg>Ttg	p.L1002L	IDE_ENST00000496903.1_5'UTR|IDE_ENST00000371581.5_Silent_p.L447L	NM_004969.3	NP_004960.2	P14735	IDE_HUMAN	insulin-degrading enzyme	1002					beta-amyloid metabolic process|bradykinin catabolic process|interspecies interaction between organisms|sex differentiation	cell surface|extracellular space|soluble fraction	ATP binding|metalloendopeptidase activity|protein homodimerization activity|signal transducer activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|urinary_tract(2)	33					Bacitracin(DB00626)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	AACAGTGGCAGACCACGCTTG	0.413													43	64					0	0	1	0	0	A	94214257	G	A	94214257	2	1	81	1	0	0	0	0	0	0	0	1	7537	933	33	2		2	IDE	10	94214257	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	104678	94214257	41320490	7987	11603											
KIF11	3832	broad.mit.edu	37	10	94399627	94399627	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:94399627C>A	ENST00000260731.3	+	17	2327	c.2237C>A	c.(2236-2238)cCa>cAa	p.P746Q		NM_004523.3	NP_004514.2	P52732	KIF11_HUMAN	kinesin family member 11	746					blood coagulation|cell division|microtubule-based movement|spindle assembly involved in mitosis	chromatin remodeling complex|cytosol|kinesin complex|microtubule|spindle pole	ATP binding|microtubule motor activity|protein kinase binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						ATACAGAAACCACTTAGTAGT	0.323													32	43					1.06801e-11	1.32596e-11	1	1	0	A	94399627	C	A	94399627	3	1	81	1	0	0	0	0	1	0	0	0	8314	594	21	5	2303	5	KIF11	10	94399627	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	185370	94399627	41135120	7988	11604											
HHEX	3087	broad.mit.edu	37	10	94452481	94452481	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:94452481G>A	ENST00000282728.5	+	3	2362	c.563G>A	c.(562-564)cGa>cAa	p.R188Q	HHEX_ENST00000472590.2_Missense_Mutation_p.R16Q|HHEX_ENST00000492654.2_Missense_Mutation_p.R16Q	NM_002729.4	NP_002720.1	Q03014	HHEX_HUMAN	hematopoietically expressed homeobox	188					anterior/posterior pattern formation|B cell differentiation|cell cycle|DNA conformation change|negative regulation of angiogenesis|negative regulation of transcription by competitive promoter binding|negative regulation of transcription from RNA polymerase II promoter|negative regulation of vascular endothelial growth factor receptor signaling pathway|poly(A)+ mRNA export from nucleus|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|protein localization to nucleus|Wnt receptor signaling pathway	cytoplasm|nucleus|protein-DNA complex	DNA bending activity|eukaryotic initiation factor 4E binding|protein homodimerization activity|repressing transcription factor binding|sequence-specific DNA binding|TBP-class protein binding|transcription regulatory region DNA binding			kidney(2)|large_intestine(2)|lung(5)|ovary(1)	10						TTTCAGAATCGACGCGCTAAA	0.478													33	51					0	0	1	0	0	A	94452481	G	A	94452481	3	1	81	1	0	0	0	0	1	0	0	0	7132	1058	37	1	573	1	HHEX	10	94452481	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	52854	94452481	41082266	7989	11605											
MYOF	26509	broad.mit.edu	37	10	95111211	95111211	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:95111211C>T	ENST00000371501.4	-	34	3903	c.3781G>A	c.(3781-3783)Ggg>Agg	p.G1261R	MYOF_ENST00000371502.4_Missense_Mutation_p.G1261R|MYOF_ENST00000358334.5_Missense_Mutation_p.G1248R|MYOF_ENST00000359263.4_Missense_Mutation_p.G1261R			Q9NZM1	MYOF_HUMAN	myoferlin	1261					blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						AGAACATCCCCGCAGGCTTTG	0.453													7	72					0	0	1	0	0	T	95111211	C	T	95111211	3	4	81	1	0	0	0	0	1	0	0	0	10137	652	23	1	2488	1	MYOF	10	95111211	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	658730	95111211	40423536	7990	11606											
MYOF	26509	broad.mit.edu	37	10	95157186	95157186	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:95157186C>T	ENST00000371501.4	-	14	1371	c.1249G>A	c.(1249-1251)Gca>Aca	p.A417T	MYOF_ENST00000371502.4_Missense_Mutation_p.A417T|MYOF_ENST00000358334.5_Missense_Mutation_p.A417T|MYOF_ENST00000359263.4_Missense_Mutation_p.A417T|MYOF_ENST00000371489.1_Missense_Mutation_p.A417T			Q9NZM1	MYOF_HUMAN	myoferlin	417	C2 3.				blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						TCTGGGTTTGCATTTTTCTCA	0.294													4	40					0	0	1	0	0	T	95157186	C	T	95157186	3	4	81	1	0	0	0	0	1	0	0	0	10137	710	25	2	5100	2	MYOF	10	95157186	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	45975	95157186	40377561	7991	11607											
MYOF	26509	broad.mit.edu	37	10	95169331	95169331	+	Splice_Site	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:95169331T>C	ENST00000371501.4	-	6	721	c.599A>G	c.(598-600)cAg>cGg	p.Q200R	MYOF_ENST00000371502.4_Splice_Site_p.Q200R|MYOF_ENST00000358334.5_Splice_Site_p.Q200R|MYOF_ENST00000359263.4_Splice_Site_p.Q200R|MYOF_ENST00000371489.1_Splice_Site_p.Q200R			Q9NZM1	MYOF_HUMAN	myoferlin	200	C2 2.|Necessary for interaction with EHD2.				blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						CGTTGCTACCTGGAAGTCCTG	0.502													15	228					0	0	1	0	0	C	95169331	T	C	95169331	5	2	81	1	0	0	0	0	0	0	1	0	10137	1594	55	3	5782	3	MYOF	10	95169331	Splice_Site	SNP	T	TCGA-DU-6392-01A-11D-1705-08	12145	95169331	40365416	7992	11608											
PDE6C	5146	broad.mit.edu	37	10	95385337	95385337	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:95385337C>A	ENST00000371447.3	+	5	1008	c.870C>A	c.(868-870)ttC>ttA	p.F290L		NM_006204.3	NP_006195.3	P51160	PDE6C_HUMAN	phosphodiesterase 6C, cGMP-specific, cone, alpha prime	290	GAF 2.				visual perception	plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|metal ion binding			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.123)				TCCAGGAATTCTACGATGAAT	0.373													6	42					8.12818e-05	8.94031e-05	1	1	0	A	95385337	C	A	95385337	3	1	81	1	0	0	0	0	1	0	0	0	11694	912	32	4	888	4	PDE6C	10	95385337	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	216006	95385337	40149410	7993	11609											
PDE6C	5146	broad.mit.edu	37	10	95394638	95394638	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:95394638G>A	ENST00000371447.3	+	9	1381	c.1243G>A	c.(1243-1245)Gat>Aat	p.D415N		NM_006204.3	NP_006195.3	P51160	PDE6C_HUMAN	phosphodiesterase 6C, cGMP-specific, cone, alpha prime	415	GAF 2.				visual perception	plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|metal ion binding			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.123)				AAAACCTTTCGATGAGCATGA	0.363													23	21					0	0	1	0	0	A	95394638	G	A	95394638	3	1	81	1	0	0	0	0	1	0	0	0	11694	1058	37	1	1277	1	PDE6C	10	95394638	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	9301	95394638	40140109	7994	11610											
PDE6C	5146	broad.mit.edu	37	10	95399908	95399908	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:95399908A>C	ENST00000371447.3	+	12	1702	c.1564A>C	c.(1564-1566)Att>Ctt	p.I522L		NM_006204.3	NP_006195.3	P51160	PDE6C_HUMAN	phosphodiesterase 6C, cGMP-specific, cone, alpha prime	522					visual perception	plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|metal ion binding			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.123)				GCACGGATTGATTAAATGTGG	0.408													52	71					0	0	1	0	0	C	95399908	A	C	95399908	3	2	81	1	0	0	0	0	1	0	0	0	11694	333	12	4	1610	4	PDE6C	10	95399908	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	5270	95399908	40134839	7995	11611											
PDE6C	5146	broad.mit.edu	37	10	95418727	95418727	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:95418727A>G	ENST00000371447.3	+	17	2244	c.2106A>G	c.(2104-2106)aaA>aaG	p.K702K		NM_006204.3	NP_006195.3	P51160	PDE6C_HUMAN	phosphodiesterase 6C, cGMP-specific, cone, alpha prime	702					visual perception	plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|metal ion binding			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.123)				AAGCCATCAAATATGTAACTG	0.318													6	53					0	0	1	0	0	G	95418727	A	G	95418727	2	3	81	1	0	0	0	0	0	0	0	1	11694	98	4	3		3	PDE6C	10	95418727	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	18819	95418727	40116020	7996	11612											
PDE6C	5146	broad.mit.edu	37	10	95422400	95422400	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:95422400G>A	ENST00000371447.3	+	20	2505	c.2367G>A	c.(2365-2367)aaG>aaA	p.K789K	PDE6C_ENST00000475427.2_3'UTR	NM_006204.3	NP_006195.3	P51160	PDE6C_HUMAN	phosphodiesterase 6C, cGMP-specific, cone, alpha prime	789					visual perception	plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|metal ion binding			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.123)				TTGTATATAAGGTAAGTAAGC	0.289													10	14					0	0	1	0	0	A	95422400	G	A	95422400	5	1	81	1	0	0	0	0	0	0	1	0	11694	1014	35	2	2445	2	PDE6C	10	95422400	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	3673	95422400	40112347	7997	11613											
PLCE1	51196	broad.mit.edu	37	10	95791321	95791321	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:95791321T>C	ENST00000371380.3	+	1	753	c.518T>C	c.(517-519)aTa>aCa	p.I173T	PLCE1_ENST00000260766.3_Missense_Mutation_p.I173T			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1						activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				TCAGTGATCATAGAGACAGGC	0.433													21	70					0	0	1	0	0	C	95791321	T	C	95791321	3	2	81	1	0	0	0	0	1	0	0	0	12082	1406	49	3	520	3	PLCE1	10	95791321	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	368921	95791321	39743426	7998	11614											
PLCE1	51196	broad.mit.edu	37	10	96005763	96005763	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:96005763C>T	ENST00000371380.3	+	7	2716	c.2481C>T	c.(2479-2481)taC>taT	p.Y827Y	PLCE1_ENST00000371375.1_Silent_p.Y519Y|PLCE1_ENST00000371385.3_Silent_p.Y519Y|PLCE1_ENST00000260766.3_Silent_p.Y827Y			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1						activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				CCAAAGAATACGACTCTCATG	0.443													27	53					0	0	1	0	0	T	96005763	C	T	96005763	2	4	81	1	0	0	0	0	0	0	0	1	12082	547	19	1		1	PLCE1	10	96005763	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	214442	96005763	39528984	7999	11615											
PLCE1	51196	broad.mit.edu	37	10	96006077	96006077	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:96006077C>T	ENST00000371380.3	+	7	3030	c.2795C>T	c.(2794-2796)aCg>aTg	p.T932M	PLCE1_ENST00000371375.1_Missense_Mutation_p.T624M|PLCE1_ENST00000371385.3_Missense_Mutation_p.T624M|PLCE1_ENST00000260766.3_Missense_Mutation_p.T932M			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1						activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				AGTAGCCTGACGGAAGGGGTC	0.478													38	54					0	0	1	0	0	T	96006077	C	T	96006077	3	4	81	1	0	0	0	0	1	0	0	0	12082	536	19	1	3107	1	PLCE1	10	96006077	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	314	96006077	39528670	8000	11616											
PLCE1	51196	broad.mit.edu	37	10	96012083	96012083	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:96012083G>A	ENST00000371380.3	+	8	3342	c.3107G>A	c.(3106-3108)cGg>cAg	p.R1036Q	PLCE1_ENST00000371375.1_Missense_Mutation_p.R728Q|PLCE1_ENST00000371385.3_Missense_Mutation_p.R728Q|PLCE1_ENST00000260766.3_Missense_Mutation_p.R1036Q			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1						activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				GAGGATGGACGGTATGAAGGC	0.493													22	43					0	0	1	0	0	A	96012083	G	A	96012083	3	1	81	1	0	0	0	0	1	0	0	0	12082	1116	39	1	3423	1	PLCE1	10	96012083	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	6006	96012083	39522664	8001	11617											
PLCE1	51196	broad.mit.edu	37	10	96068407	96068407	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:96068407G>A	ENST00000371380.3	+	26	6189	c.5954G>A	c.(5953-5955)aGc>aAc	p.S1985N	PLCE1_ENST00000371375.1_Missense_Mutation_p.S1677N|PLCE1_ENST00000371385.3_Missense_Mutation_p.S1677N|PLCE1_ENST00000260766.3_Missense_Mutation_p.S1985N			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1						activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				TTCATTAACAGCAGAAGGATG	0.393													6	130					0	0	1	0	0	A	96068407	G	A	96068407	3	1	81	1	0	0	0	0	1	0	0	0	12082	971	34	2	6342	2	PLCE1	10	96068407	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	56324	96068407	39466340	8002	11618											
NOC3L	64318	broad.mit.edu	37	10	96109022	96109022	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:96109022G>A	ENST00000371361.3	-	10	1342	c.1242C>T	c.(1240-1242)taC>taT	p.Y414Y	NOC3L_ENST00000371350.1_Silent_p.Y414Y|NOC3L_ENST00000543788.1_Silent_p.Y152Y|NOC3L_ENST00000463649.1_5'UTR	NM_022451.9	NP_071896.8	Q8WTT2	NOC3L_HUMAN	nucleolar complex associated 3 homolog (S. cerevisiae)	414						nuclear speck|nucleolus	binding			endometrium(3)|large_intestine(17)|lung(5)|ovary(1)|skin(2)|stomach(1)	29		Colorectal(252;0.0897)				GCCTAACTTCGTAATTTCTGC	0.323													25	40					0	0	1	0	0	A	96109022	G	A	96109022	2	1	81	1	0	0	0	0	0	0	0	1	10561	1140	40	1		1	NOC3L	10	96109022	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	40615	96109022	39425725	8003	11619											
NOC3L	64318	broad.mit.edu	37	10	96112807	96112807	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:96112807T>G	ENST00000371361.3	-	7	804	c.704A>C	c.(703-705)aAa>aCa	p.K235T	NOC3L_ENST00000371350.1_Missense_Mutation_p.K235T|NOC3L_ENST00000463649.1_5'UTR	NM_022451.9	NP_071896.8	Q8WTT2	NOC3L_HUMAN	nucleolar complex associated 3 homolog (S. cerevisiae)	235						nuclear speck|nucleolus	binding			endometrium(3)|large_intestine(17)|lung(5)|ovary(1)|skin(2)|stomach(1)	29		Colorectal(252;0.0897)				TTCTTTCAATTTTTTAATCTG	0.353													10	98					0	0	1	0	0	G	96112807	T	G	96112807	3	3	81	1	0	0	0	0	1	0	0	0	10561	1841	64	5	1758	5	NOC3L	10	96112807	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	3785	96112807	39421940	8004	11620											
TBC1D12	23232	broad.mit.edu	37	10	96162399	96162399	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:96162399G>A	ENST00000225235.4	+	1	139	c.29G>A	c.(28-30)tGc>tAc	p.C10Y		NM_015188.1	NP_056003.1	O60347	TBC12_HUMAN	TBC1 domain family, member 12	10						intracellular	Rab GTPase activator activity			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2)	20		Colorectal(252;0.0429)				GCCGGAGCCTGCTCGGGAAGA	0.692													5	13					0	0	1	0	0	A	96162399	G	A	96162399	3	1	81	1	0	0	0	0	1	0	0	0	15658	1319	46	2	31	2	TBC1D12	10	96162399	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	49592	96162399	39372348	8005	11621											
TBC1D12	23232	broad.mit.edu	37	10	96234514	96234514	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:96234514T>C	ENST00000225235.4	+	3	1295	c.1185T>C	c.(1183-1185)acT>acC	p.T395T		NM_015188.1	NP_056003.1	O60347	TBC12_HUMAN	TBC1 domain family, member 12	395						intracellular	Rab GTPase activator activity			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2)	20		Colorectal(252;0.0429)				TTTCTACCACTGCCTTGATTC	0.353													5	66					0	0	1	0	0	C	96234514	T	C	96234514	2	2	81	1	0	0	0	0	0	0	0	1	15658	1567	55	3		3	TBC1D12	10	96234514	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	72115	96234514	39300233	8006	11622											
HELLS	3070	broad.mit.edu	37	10	96317912	96317912	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:96317912delA	ENST00000348459.5	+	4	398	c.293delA	c.(292-294)gaafs	p.E98fs	HELLS_ENST00000371332.4_Frame_Shift_Del_p.E98fs|HELLS_ENST00000462057.1_3'UTR|HELLS_ENST00000239026.6_3'UTR|HELLS_ENST00000394044.1_Frame_Shift_Del_p.E98fs|HELLS_ENST00000394045.1_Frame_Shift_Del_p.E98fs|HELLS_ENST00000394036.1_Frame_Shift_Del_p.E98fs	NM_018063.3	NP_060533.2	Q9NRZ9	HELLS_HUMAN	helicase, lymphoid-specific	98					cell division|centromeric heterochromatin formation|lymphocyte proliferation|maintenance of DNA methylation|methylation-dependent chromatin silencing|mitosis|transcription, DNA-dependent	centromeric heterochromatin|nucleus	ATP binding|DNA binding|helicase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22		Colorectal(252;0.0429)		all cancers(201;2.13e-05)		AAGAAGAAAGAAAAATTGGAG	0.269													24	57	---	---	---	---						-	96317912	A	-	96317912	7	5	81	1	0	1	0	1	0	0	0	0	7087	246	9	0	307	0	HELLS	10	96317912	Frame_Shift_Del	DEL	A	TCGA-DU-6392-01A-11D-1705-08	83398	96317912	39216835	8007	11623											
HELLS	3070	broad.mit.edu	37	10	96356854	96356854	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:96356854G>A	ENST00000348459.5	+	21	2513	c.2408G>A	c.(2407-2409)cGa>cAa	p.R803Q	HELLS_ENST00000371332.4_Missense_Mutation_p.R849Q|RP11-119K6.6_ENST00000432120.1_RNA|HELLS_ENST00000394045.1_Missense_Mutation_p.R705Q|HELLS_ENST00000394036.1_3'UTR|HELLS_ENST00000239026.6_3'UTR	NM_018063.3	NP_060533.2	Q9NRZ9	HELLS_HUMAN	helicase, lymphoid-specific	803					cell division|centromeric heterochromatin formation|lymphocyte proliferation|maintenance of DNA methylation|methylation-dependent chromatin silencing|mitosis|transcription, DNA-dependent	centromeric heterochromatin|nucleus	ATP binding|DNA binding|helicase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22		Colorectal(252;0.0429)		all cancers(201;2.13e-05)		TTGTTAGATCGAAGTGATCTT	0.299													28	30					0	0	1	0	0	A	96356854	G	A	96356854	3	1	81	1	0	0	0	0	1	0	0	0	7087	1058	37	1	2490	1	HELLS	10	96356854	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	38942	96356854	39177893	8008	11624											
CYP2C9	1559	broad.mit.edu	37	10	96701682	96701682	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:96701682G>A	ENST00000260682.6	+	2	248	c.236G>A	c.(235-237)gGa>gAa	p.G79E	CYP2C9_ENST00000461906.1_3'UTR	NM_000771.3	NP_000762.2	P11712	CP2C9_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 9	79					exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		Colorectal(252;0.0902)		all cancers(201;6.93e-05)	Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)	GTGCTGCATGGATATGAAGCA	0.463													6	132					0	0	1	0	0	A	96701682	G	A	96701682	3	1	81	1	0	0	0	0	1	0	0	0	4191	1174	41	2	242	2	CYP2C9	10	96701682	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	344828	96701682	38833065	8009	11625											
PDLIM1	9124	broad.mit.edu	37	10	97028547	97028547	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:97028547G>T	ENST00000329399.6	-	3	429	c.321C>A	c.(319-321)gcC>gcA	p.A107A	PDLIM1_ENST00000477757.1_5'UTR	NM_020992.2	NP_066272.1	O00151	PDLI1_HUMAN	PDZ and LIM domain 1	107					response to oxidative stress	cytoplasm|cytoskeleton	zinc ion binding			endometrium(1)|large_intestine(5)|lung(1)|ovary(1)|skin(2)	10		Colorectal(252;0.083)		Epithelial(162;1.64e-06)|all cancers(201;3.71e-05)		GGGGTTCAGAGGCTAAATTCA	0.488													10	61					1.58986e-06	1.82794e-06	1	1	0	T	97028547	G	T	97028547	2	4	81	1	0	0	0	0	0	0	0	1	11726	987	35	4		4	PDLIM1	10	97028547	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	326865	97028547	38506200	8010	11626											
SORBS1	10580	broad.mit.edu	37	10	97078130	97078130	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:97078130C>T	ENST00000371247.2	-	32	3947	c.3758G>A	c.(3757-3759)cGc>cAc	p.R1253H	SORBS1_ENST00000306402.6_Missense_Mutation_p.R742H|SORBS1_ENST00000607232.1_Missense_Mutation_p.R1255H|SORBS1_ENST00000371227.4_Missense_Mutation_p.R1227H|SORBS1_ENST00000353505.5_Missense_Mutation_p.R866H|SORBS1_ENST00000371249.2_Missense_Mutation_p.R777H|SORBS1_ENST00000354106.3_Missense_Mutation_p.R965H|SORBS1_ENST00000371245.3_Missense_Mutation_p.R866H|SORBS1_ENST00000371239.1_Missense_Mutation_p.R772H|SORBS1_ENST00000361941.3_Missense_Mutation_p.R1253H|SORBS1_ENST00000347291.4_Missense_Mutation_p.R807H|SORBS1_ENST00000393949.1_Missense_Mutation_p.R965H|SORBS1_ENST00000277982.5_Missense_Mutation_p.R1112H|SORBS1_ENST00000371246.2_Missense_Mutation_p.R1112H|SORBS1_ENST00000371241.1_Missense_Mutation_p.R645H			Q9BX66	SRBS1_HUMAN	sorbin and SH3 domain containing 1	1253	SH3 3.				focal adhesion assembly|glucose transport|insulin receptor signaling pathway|muscle contraction|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|stress fiber assembly	centrosome|cytosol|focal adhesion|membrane raft|nucleus|stress fiber|zonula adherens	actin binding|insulin receptor binding|SH3/SH2 adaptor activity			NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.0429)		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)		ATCTCCATCGCGGAGTTCCAA	0.353													23	61					0	0	1	0	0	T	97078130	C	T	97078130	3	4	81	1	0	0	0	0	1	0	0	0	14981	768	27	1	128	1	SORBS1	10	97078130	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	49583	97078130	38456617	8011	11627											
SORBS1	10580	broad.mit.edu	37	10	97096671	97096671	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:97096671C>T	ENST00000371247.2	-	30	3435	c.3246G>A	c.(3244-3246)acG>acA	p.T1082T	SORBS1_ENST00000306402.6_Intron|SORBS1_ENST00000607232.1_Intron|SORBS1_ENST00000371227.4_Silent_p.T1036T|SORBS1_ENST00000353505.5_Intron|SORBS1_ENST00000371249.2_Intron|SORBS1_ENST00000354106.3_Intron|SORBS1_ENST00000371245.3_Intron|SORBS1_ENST00000371239.1_Intron|SORBS1_ENST00000361941.3_Silent_p.T1082T|SORBS1_ENST00000347291.4_Intron|SORBS1_ENST00000393949.1_Intron|SORBS1_ENST00000277982.5_Intron|SORBS1_ENST00000371246.2_Intron|SORBS1_ENST00000371241.1_Intron			Q9BX66	SRBS1_HUMAN	sorbin and SH3 domain containing 1	1082					focal adhesion assembly|glucose transport|insulin receptor signaling pathway|muscle contraction|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|stress fiber assembly	centrosome|cytosol|focal adhesion|membrane raft|nucleus|stress fiber|zonula adherens	actin binding|insulin receptor binding|SH3/SH2 adaptor activity			NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.0429)		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)		CTGAAGATGGCGTGTGGACAC	0.552													12	28					0	0	1	0	0	T	97096671	C	T	97096671	2	4	81	1	0	0	0	0	0	0	0	1	14981	755	27	1		1	SORBS1	10	97096671	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	18541	97096671	38438076	8012	11628											
ENTPD1	953	broad.mit.edu	37	10	97602166	97602166	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:97602166G>A	ENST00000371207.3	+	4	427	c.364G>A	c.(364-366)Gaa>Aaa	p.E122K	ENTPD1_ENST00000543964.1_Missense_Mutation_p.E2K|ENTPD1_ENST00000490659.1_3'UTR|ENTPD1_ENST00000539125.1_Intron|ENTPD1_ENST00000453258.2_Missense_Mutation_p.E117K|RP11-429G19.3_ENST00000433113.1_RNA|ENTPD1_ENST00000371203.5_Intron|ENTPD1-AS1_ENST00000416301.1_RNA|ENTPD1_ENST00000371205.4_Missense_Mutation_p.E110K	NM_001164178.1	NP_001157650.1	P49961	ENTP1_HUMAN	ectonucleoside triphosphate diphosphohydrolase 1	110					cell adhesion	integral to plasma membrane	ATP binding			cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|skin(1)	16		Colorectal(252;0.0821)		Epithelial(162;1.31e-07)|all cancers(201;5.33e-06)		TGATTGCATGGAAAGAGCTAG	0.433													38	63					0	0	1	0	0	A	97602166	G	A	97602166	3	1	81	1	0	0	0	0	1	0	0	0	5166	1175	41	2	439	2	ENTPD1	10	97602166	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	505495	97602166	37932581	8013	11629											
CC2D2B	387707	broad.mit.edu	37	10	97769581	97769581	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:97769581G>T	ENST00000371198.2	+	12	1334		c.e12-1		ENTPD1-AS1_ENST00000451364.1_RNA|RP11-690P14.4_ENST00000475252.2_Splice_Site|ENTPD1-AS1_ENST00000454638.1_RNA|ENTPD1-AS1_ENST00000416301.1_RNA|CC2D2B_ENST00000410012.2_Splice_Site|ENTPD1-AS1_ENST00000452728.1_RNA|CC2D2B_ENST00000344386.3_Splice_Site			Q6DHV5	C2D2B_HUMAN	coiled-coil and C2 domain containing 2B											large_intestine(1)|lung(7)|ovary(1)|urinary_tract(1)	10		Colorectal(252;0.158)		Epithelial(162;7.08e-08)|all cancers(201;2.71e-06)		tattttCATAGGATCACTGTC	0.308													12	48					7.03913e-09	8.42519e-09	1	1	0	T	97769581	G	T	97769581	5	4	81	1	0	0	0	0	0	0	1	0	2747	1014	35	4	27	4	CC2D2B	10	97769581	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	167415	97769581	37765166	8014	11630											
CCNJ	54619	broad.mit.edu	37	10	97817680	97817680	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:97817680G>A	ENST00000265992.5	+	6	1168	c.801G>A	c.(799-801)caG>caA	p.Q267Q	ENTPD1-AS1_ENST00000451364.1_RNA|CCNJ_ENST00000465148.2_Silent_p.Q278Q|ENTPD1-AS1_ENST00000458228.1_RNA|ENTPD1-AS1_ENST00000427846.1_RNA|ENTPD1-AS1_ENST00000454638.1_RNA|ENTPD1-AS1_ENST00000416301.1_RNA|CCNJ_ENST00000403870.3_Silent_p.Q266Q|CCNJ_ENST00000534974.1_Silent_p.Q267Q|ENTPD1-AS1_ENST00000452728.1_RNA	NM_001134375.1|NM_001134376.1|NM_019084.4	NP_001127847.1|NP_001127848.1|NP_061957.2	Q5T5M9	CCNJ_HUMAN	cyclin J	267						nucleus				breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	11				Epithelial(162;6.1e-08)|all cancers(201;2.32e-06)		CAGCCTCCCAGCCATCACGGC	0.498													29	47					0	0	1	0	0	A	97817680	G	A	97817680	2	1	81	1	0	0	0	0	0	0	0	1	2950	962	34	2		2	CCNJ	10	97817680	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	48099	97817680	37717067	8015	11631											
ZNF518A	9849	broad.mit.edu	37	10	97917326	97917326	+	RNA	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:97917326A>G	ENST00000534948.1	+	0	2104							Q6AHZ1	Z518A_HUMAN	zinc finger protein 518A						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	24		Colorectal(252;0.0815)		Epithelial(162;4.23e-08)|all cancers(201;1.85e-06)		GGTTTCATGAAGACTGCTGTA	0.423													24	35					0	0	1	0	0	G	97917326	A	G	97917326	1	3	81	0	1	0	0	0	0	0	0	0	18019	72	3	3		3	ZNF518A	10	97917326	RNA	SNP	A	TCGA-DU-6392-01A-11D-1705-08	99646	97917326	37617421	8016	11632											
ZNF518A	9849	broad.mit.edu	37	10	97917704	97917704	+	RNA	DEL	A	A	-			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:97917704delA	ENST00000534948.1	+	0	2482							Q6AHZ1	Z518A_HUMAN	zinc finger protein 518A						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	24		Colorectal(252;0.0815)		Epithelial(162;4.23e-08)|all cancers(201;1.85e-06)		AATATGCTTCAAACAATGGAT	0.323													10	105	---	---	---	---						-	97917704	A	-	97917704	6	5	81	0	1	1	0	1	0	0	0	0	18019	130	5	0		0	ZNF518A	10	97917704	RNA	DEL	A	TCGA-DU-6392-01A-11D-1705-08	378	97917704	37617043	8017	11633											
BLNK	29760	broad.mit.edu	37	10	97964316	97964316	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:97964316G>A	ENST00000224337.5	-	12	1015	c.874C>T	c.(874-876)Cag>Tag	p.Q292*	BLNK_ENST00000413476.2_Nonsense_Mutation_p.Q292*|BLNK_ENST00000427367.2_Nonsense_Mutation_p.Q292*|BLNK_ENST00000371176.2_Nonsense_Mutation_p.Q269*	NM_013314.3	NP_037446.1	Q8WV28	BLNK_HUMAN	B-cell linker	292					B cell differentiation|humoral immune response|inflammatory response|intracellular signal transduction	cytoplasm|plasma membrane	SH3/SH2 adaptor activity|transmembrane receptor protein tyrosine kinase adaptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(2)|stomach(1)	14		Colorectal(252;0.083)		Epithelial(162;7.89e-08)|all cancers(201;2.27e-06)		ACTGGTGACTGCACAGCTTCT	0.423													33	49					0	0	1	0	0	A	97964316	G	A	97964316	4	1	81	1	0	0	0	0	0	1	0	0	1446	1328	46	2	520	2	BLNK	10	97964316	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	46612	97964316	37570431	8018	11634											
BLNK	29760	broad.mit.edu	37	10	97964351	97964351	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:97964351C>T	ENST00000224337.5	-	12	980	c.839G>A	c.(838-840)cGc>cAc	p.R280H	BLNK_ENST00000413476.2_Missense_Mutation_p.R280H|BLNK_ENST00000427367.2_Missense_Mutation_p.R280H|BLNK_ENST00000371176.2_Missense_Mutation_p.R257H	NM_013314.3	NP_037446.1	Q8WV28	BLNK_HUMAN	B-cell linker	280					B cell differentiation|humoral immune response|inflammatory response|intracellular signal transduction	cytoplasm|plasma membrane	SH3/SH2 adaptor activity|transmembrane receptor protein tyrosine kinase adaptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(2)|stomach(1)	14		Colorectal(252;0.083)		Epithelial(162;7.89e-08)|all cancers(201;2.27e-06)		CCCTCGGTGGCGTTCAGCAGG	0.443													27	50					0	0	1	0	0	T	97964351	C	T	97964351	3	4	81	1	0	0	0	0	1	0	0	0	1446	768	27	1	555	1	BLNK	10	97964351	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	35	97964351	37570396	8019	11635											
TLL2	7093	broad.mit.edu	37	10	98146790	98146790	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:98146790C>T	ENST00000357947.3	-	14	1997	c.1772G>A	c.(1771-1773)cGc>cAc	p.R591H		NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN	tolloid-like 2	591	EGF-like 1; calcium-binding (Potential).			EVDECSWPDHGGCEHRCV -> GKKKKKKKKKKKKKKKKK (in Ref. 5; AAH13871).	cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		GTTCACACAGCGATGCTCGCA	0.592													17	22					0	0	1	0	0	T	98146790	C	T	98146790	3	4	81	1	0	0	0	0	1	0	0	0	16006	768	27	1	1307	1	TLL2	10	98146790	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	182439	98146790	37387957	8020	11636											
TLL2	7093	broad.mit.edu	37	10	98165092	98165092	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:98165092C>A	ENST00000357947.3	-	10	1390		c.e10-1		TLL2_ENST00000469598.1_Splice_Site	NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN	tolloid-like 2						cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		TTAATACGATCTGTAAAGAAT	0.433													11	71					0.000673444	0.000721718	1	1	0	A	98165092	C	A	98165092	5	1	81	1	0	0	0	0	0	0	1	0	16006	927	32	4	1931	4	TLL2	10	98165092	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	18302	98165092	37369655	8021	11637											
PIK3AP1	118788	broad.mit.edu	37	10	98386590	98386590	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:98386590G>A	ENST00000339364.5	-	10	1663	c.1544C>T	c.(1543-1545)aCg>aTg	p.T515M	PIK3AP1_ENST00000371110.2_Missense_Mutation_p.T337M|PIK3AP1_ENST00000371109.3_Missense_Mutation_p.T114M	NM_152309.2	NP_689522.2	Q6ZUJ8	BCAP_HUMAN	phosphoinositide-3-kinase adaptor protein 1	515						cytoplasm|plasma membrane				NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(27)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	52		Colorectal(252;0.0442)		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)		GTCATCCACCGTGTGATAAAC	0.547													6	68					0	0	1	0	0	A	98386590	G	A	98386590	3	1	81	1	0	0	0	0	1	0	0	0	11956	1145	40	1	905	1	PIK3AP1	10	98386590	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	221498	98386590	37148157	8022	11638											
C10orf12	26148	broad.mit.edu	37	10	98741496	98741496	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:98741496G>A	ENST00000286067.2	+	1	456	c.349G>A	c.(349-351)Ggc>Agc	p.G117S		NM_015652.2	NP_056467.2	Q8N655	CJ012_HUMAN	chromosome 10 open reading frame 12	117										NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		GTTAGGCCCCGGCCCTATGCC	0.473													27	40					0	0	1	0	0	A	98741496	G	A	98741496	3	1	81	1	0	0	0	0	1	0	0	0	1593	1116	39	1	351	1	C10orf12	10	98741496	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	354906	98741496	36793251	8023	11639											
C10orf12	26148	broad.mit.edu	37	10	98741938	98741938	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:98741938C>A	ENST00000286067.2	+	1	898	c.791C>A	c.(790-792)tCt>tAt	p.S264Y		NM_015652.2	NP_056467.2	Q8N655	CJ012_HUMAN	chromosome 10 open reading frame 12	264										NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		GAAATCACCTCTCACGAGGAA	0.512													27	53					5.45727e-16	6.98592e-16	1	1	0	A	98741938	C	A	98741938	3	1	81	1	0	0	0	0	1	0	0	0	1593	913	32	4	793	4	C10orf12	10	98741938	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	442	98741938	36792809	8024	11640											
C10orf12	26148	broad.mit.edu	37	10	98741970	98741970	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:98741970C>T	ENST00000286067.2	+	1	930	c.823C>T	c.(823-825)Cga>Tga	p.R275*		NM_015652.2	NP_056467.2	Q8N655	CJ012_HUMAN	chromosome 10 open reading frame 12	275										NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		CGTTTCACCTCGAAAAGAACC	0.522													5	74					0	0	1	0	0	T	98741970	C	T	98741970	4	4	81	1	0	0	0	0	0	1	0	0	1593	876	31	1	825	1	C10orf12	10	98741970	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	32	98741970	36792777	8025	11641											
C10orf12	26148	broad.mit.edu	37	10	98743924	98743924	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:98743924A>T	ENST00000286067.2	+	1	2884	c.2777A>T	c.(2776-2778)aAa>aTa	p.K926I		NM_015652.2	NP_056467.2	Q8N655	CJ012_HUMAN	chromosome 10 open reading frame 12	926										NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		GAGCGCTTGAAAAAGCACTTG	0.473													9	107					0	0	1	0	0	T	98743924	A	T	98743924	3	4	81	1	0	0	0	0	1	0	0	0	1593	14	1	5	2779	5	C10orf12	10	98743924	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	1954	98743924	36790823	8026	11642											
SLIT1	6585	broad.mit.edu	37	10	98824567	98824567	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:98824567C>A	ENST00000266058.4	-	6	797	c.552G>T	c.(550-552)gaG>gaT	p.E184D	ARHGAP19-SLIT1_ENST00000453547.2_3'UTR|SLIT1_ENST00000371041.3_Missense_Mutation_p.E184D|SLIT1_ENST00000371070.4_Missense_Mutation_p.E184D	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	184					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)		CTTACAGCACCTCCAGCCCCC	0.592													6	112					5.18039e-06	5.88187e-06	1	1	0	A	98824567	C	A	98824567	3	1	81	1	0	0	0	0	1	0	0	0	14793	680	24	4	4180	4	SLIT1	10	98824567	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	80643	98824567	36710180	8027	11643											
SLIT1	6585	broad.mit.edu	37	10	98824578	98824578	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:98824578G>A	ENST00000266058.4	-	6	786	c.541C>T	c.(541-543)Cgg>Tgg	p.R181W	ARHGAP19-SLIT1_ENST00000453547.2_3'UTR|SLIT1_ENST00000371041.3_Missense_Mutation_p.R181W|SLIT1_ENST00000371070.4_Missense_Mutation_p.R181W	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	181					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)		TCCAGCCCCCGCAGAGCACGG	0.582													39	84					0	0	1	0	0	A	98824578	G	A	98824578	3	1	81	1	0	0	0	0	1	0	0	0	14793	1086	38	1	4191	1	SLIT1	10	98824578	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	11	98824578	36710169	8028	11644											
RRP12	23223	broad.mit.edu	37	10	99131923	99131923	+	Splice_Site	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:99131923T>C	ENST00000370992.4	-	20	2361	c.2250A>G	c.(2248-2250)agA>agG	p.R750R	RRP12_ENST00000414986.1_Splice_Site_p.R689R|RRP12_ENST00000479481.1_5'UTR|RRP12_ENST00000315563.6_Splice_Site_p.R650R|RRP12_ENST00000536831.1_Splice_Site_p.R468R	NM_015179.3	NP_055994.2	Q5JTH9	RRP12_HUMAN	ribosomal RNA processing 12 homolog (S. cerevisiae)	750						integral to membrane|nuclear membrane|nucleolus	protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(2)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Colorectal(252;0.162)		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)		GGACAGACAATCTGCTCGGGG	0.592													10	10					0	0	1	0	0	C	99131923	T	C	99131923	5	2	81	1	0	0	0	0	0	0	1	0	13738	1449	50	3	1703	3	RRP12	10	99131923	Splice_Site	SNP	T	TCGA-DU-6392-01A-11D-1705-08	307345	99131923	36402824	8029	11645											
RRP12	23223	broad.mit.edu	37	10	99132933	99132933	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:99132933C>T	ENST00000370992.4	-	18	2162	c.2051G>A	c.(2050-2052)cGc>cAc	p.R684H	RRP12_ENST00000414986.1_Missense_Mutation_p.R623H|RRP12_ENST00000479481.1_5'UTR|RRP12_ENST00000315563.6_Missense_Mutation_p.R584H|RRP12_ENST00000536831.1_Missense_Mutation_p.R402H	NM_015179.3	NP_055994.2	Q5JTH9	RRP12_HUMAN	ribosomal RNA processing 12 homolog (S. cerevisiae)	684						integral to membrane|nuclear membrane|nucleolus	protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(2)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Colorectal(252;0.162)		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)		CTTGGCAAAGCGACTCACTTC	0.592													17	33					0	0	1	0	0	T	99132933	C	T	99132933	3	4	81	1	0	0	0	0	1	0	0	0	13738	768	27	1	1910	1	RRP12	10	99132933	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1010	99132933	36401814	8030	11646											
RRP12	23223	broad.mit.edu	37	10	99144989	99144989	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:99144989T>C	ENST00000370992.4	-	10	1253	c.1142A>G	c.(1141-1143)gAg>gGg	p.E381G	RRP12_ENST00000414986.1_Missense_Mutation_p.E320G|RRP12_ENST00000315563.6_Missense_Mutation_p.E281G|RRP12_ENST00000536831.1_Missense_Mutation_p.E99G	NM_015179.3	NP_055994.2	Q5JTH9	RRP12_HUMAN	ribosomal RNA processing 12 homolog (S. cerevisiae)	381						integral to membrane|nuclear membrane|nucleolus	protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(2)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Colorectal(252;0.162)		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)		TAAATCATTCTCACTGGGAAC	0.527													7	87					0	0	1	0	0	C	99144989	T	C	99144989	3	2	81	1	0	0	0	0	1	0	0	0	13738	1551	54	3	2851	3	RRP12	10	99144989	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	12056	99144989	36389758	8031	11647											
ZDHHC16	84287	broad.mit.edu	37	10	99213323	99213323	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:99213323G>A	ENST00000393760.1	+	7	942	c.593G>A	c.(592-594)cGg>cAg	p.R198Q	ZDHHC16_ENST00000495735.1_3'UTR|ZDHHC16_ENST00000345745.5_Missense_Mutation_p.R133Q|ZDHHC16_ENST00000370854.3_Missense_Mutation_p.R198Q|ZDHHC16_ENST00000352634.4_Missense_Mutation_p.R198Q|ZDHHC16_ENST00000353979.3_Intron|ZDHHC16_ENST00000370846.4_Intron|ZDHHC16_ENST00000370842.2_Missense_Mutation_p.R198Q	NM_198046.1	NP_932163.1	Q969W1	ZDH16_HUMAN	zinc finger, DHHC-type containing 16	198					apoptosis	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity|zinc ion binding			kidney(4)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	14		Colorectal(252;0.0846)		Epithelial(162;5.81e-10)|all cancers(201;4.19e-08)		TATAACCATCGGTACTTCTTC	0.488													62	79					0	0	1	0	0	A	99213323	G	A	99213323	3	1	81	1	0	0	0	0	1	0	0	0	17664	1116	39	1	611	1	ZDHHC16	10	99213323	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	68334	99213323	36321424	8032	11648											
ZDHHC16	84287	broad.mit.edu	37	10	99213591	99213591	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:99213591G>A	ENST00000393760.1	+	8	1075	c.726G>A	c.(724-726)gcG>gcA	p.A242A	ZDHHC16_ENST00000495735.1_3'UTR|ZDHHC16_ENST00000345745.5_Intron|ZDHHC16_ENST00000370854.3_Silent_p.A242A|ZDHHC16_ENST00000352634.4_Intron|ZDHHC16_ENST00000353979.3_Silent_p.A203A|ZDHHC16_ENST00000370846.4_Intron|ZDHHC16_ENST00000370842.2_Intron	NM_198046.1	NP_932163.1	Q969W1	ZDH16_HUMAN	zinc finger, DHHC-type containing 16	242					apoptosis	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity|zinc ion binding			kidney(4)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	14		Colorectal(252;0.0846)		Epithelial(162;5.81e-10)|all cancers(201;4.19e-08)		AACTACAGGCGGTTGCCAACC	0.577													5	44					0	0	1	0	0	A	99213591	G	A	99213591	2	1	81	1	0	0	0	0	0	0	0	1	17664	1103	39	1		1	ZDHHC16	10	99213591	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	268	99213591	36321156	8033	11649											
UBTD1	80019	broad.mit.edu	37	10	99329915	99329915	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:99329915G>A	ENST00000370664.3	+	3	655	c.319G>A	c.(319-321)Gat>Aat	p.D107N		NM_024954.3	NP_079230.1	Q9HAC8	UBTD1_HUMAN	ubiquitin domain containing 1	107										central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(1)|skin(1)	7		Colorectal(252;0.162)		Epithelial(162;3.04e-10)|all cancers(201;2.86e-08)		TGAATGCTACGATGAGCTGGG	0.582													51	81					0	0	1	0	0	A	99329915	G	A	99329915	3	1	81	1	0	0	0	0	1	0	0	0	16968	1058	37	1	329	1	UBTD1	10	99329915	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	116324	99329915	36204832	8034	11650											
AVPI1	60370	broad.mit.edu	37	10	99439405	99439405	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:99439405G>A	ENST00000370626.3	-	2	825	c.258C>T	c.(256-258)ggC>ggT	p.G86G		NM_021732.2	NP_068378.2	Q5T686	AVPI1_HUMAN	arginine vasopressin-induced 1	86					cell cycle					breast(1)|endometrium(1)|large_intestine(2)|skin(1)	5		Colorectal(252;0.162)		Epithelial(162;8.37e-11)|all cancers(201;7.94e-09)		GTAGCGAGTGGCCCAGGGGTT	0.617													8	13					0	0	1	0	0	A	99439405	G	A	99439405	2	1	81	1	0	0	0	0	0	0	0	1	1228	1190	42	2		2	AVPI1	10	99439405	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	109490	99439405	36095342	8035	11651											
ZFYVE27	118813	broad.mit.edu	37	10	99509276	99509276	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:99509276G>A	ENST00000393677.4	+	6	801	c.597G>A	c.(595-597)ctG>ctA	p.L199L	ZFYVE27_ENST00000453958.2_Silent_p.L199L|ZFYVE27_ENST00000359980.3_Silent_p.L199L|ZFYVE27_ENST00000370613.3_Silent_p.L81L|ZFYVE27_ENST00000356257.4_Silent_p.L199L|ZFYVE27_ENST00000370610.3_Silent_p.L101L|ZFYVE27_ENST00000357540.4_Silent_p.L113L|ZFYVE27_ENST00000337540.7_Silent_p.L167L	NM_144588.6	NP_653189.3	Q5T4F4	ZFY27_HUMAN	zinc finger, FYVE domain containing 27	199					cell death|nerve growth factor receptor signaling pathway|neuron projection development|protein localization in plasma membrane	axon|dendrite|endoplasmic reticulum membrane|growth cone membrane|integral to membrane|recycling endosome membrane	metal ion binding|protein binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	8		Colorectal(252;0.0846)		Epithelial(162;7.08e-10)|all cancers(201;5.18e-08)		TGTATTTGCTGCCACTCTGCT	0.522													12	76					0	0	1	0	0	A	99509276	G	A	99509276	2	1	81	1	0	0	0	0	0	0	0	1	17727	1306	46	2		2	ZFYVE27	10	99509276	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	69871	99509276	36025471	8036	11652											
CRTAC1	55118	broad.mit.edu	37	10	99655064	99655064	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:99655064C>A	ENST00000370597.3	-	11	1779	c.1424G>T	c.(1423-1425)aGg>aTg	p.R475M	CRTAC1_ENST00000370591.2_Missense_Mutation_p.R475M|CRTAC1_ENST00000298819.4_Missense_Mutation_p.R475M	NM_018058.6	NP_060528.3	Q9NQ79	CRAC1_HUMAN	cartilage acidic protein 1	475						proteinaceous extracellular matrix	calcium ion binding			autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(6)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	35		Colorectal(252;0.24)		Epithelial(162;2.18e-10)|all cancers(201;3.27e-09)		GTCGATGATCCTCAGGTGGGC	0.622													18	20					6.49762e-13	8.15126e-13	1	1	0	A	99655064	C	A	99655064	3	1	81	1	0	0	0	0	1	0	0	0	3919	681	24	4	581	4	CRTAC1	10	99655064	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	145788	99655064	35879683	8037	11653											
CRTAC1	55118	broad.mit.edu	37	10	99677334	99677334	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:99677334G>T	ENST00000370597.3	-	5	993	c.638C>A	c.(637-639)cCt>cAt	p.P213H	CRTAC1_ENST00000370591.2_Missense_Mutation_p.P213H|CRTAC1_ENST00000298819.4_Missense_Mutation_p.P213H	NM_018058.6	NP_060528.3	Q9NQ79	CRAC1_HUMAN	cartilage acidic protein 1	213						proteinaceous extracellular matrix	calcium ion binding			autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(6)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	35		Colorectal(252;0.24)		Epithelial(162;2.18e-10)|all cancers(201;3.27e-09)		ACTGGCCTCAGGGTCCATTTC	0.557													4	30					0.00909568	0.00944708	1	1	0	T	99677334	G	T	99677334	3	4	81	1	0	0	0	0	1	0	0	0	3919	1000	35	4	1391	4	CRTAC1	10	99677334	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	22270	99677334	35857413	8038	11654											
HPS1	3257	broad.mit.edu	37	10	100183511	100183511	+	Splice_Site	SNP	G	G	A	rs147748659	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:100183511G>A	ENST00000325103.6	-	15	1764	c.1531C>T	c.(1531-1533)Cgg>Tgg	p.R511W	HPS1_ENST00000467246.1_5'UTR|HPS1_ENST00000361490.4_Splice_Site_p.R511W	NM_000195.3	NP_000186.2	Q92902	HPS1_HUMAN	Hermansky-Pudlak syndrome 1	511					lysosome organization|response to stimulus|visual perception	cytoplasmic membrane-bounded vesicle|integral to plasma membrane|lysosome|membrane fraction|soluble fraction	protein dimerization activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23		Colorectal(252;0.234)		Epithelial(162;3.87e-12)|all cancers(201;5.63e-10)		TGCACTTACCGCATGAGCCTC	0.672									Hermansky-Pudlak syndrome				21	37					0	0	1	0	0	A	100183511	G	A	100183511	5	1	81	1	0	0	0	0	0	0	1	0	7380	1101	38	1	595	1	HPS1	10	100183511	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	506177	100183511	35351236	8039	11655											
HPS1	3257	broad.mit.edu	37	10	100202908	100202908	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:100202908G>A	ENST00000325103.6	-	3	323	c.90C>T	c.(88-90)ttC>ttT	p.F30F	HPS1_ENST00000338546.5_Silent_p.F30F|HPS1_ENST00000467246.1_5'UTR|HPS1_ENST00000361490.4_Silent_p.F30F	NM_000195.3	NP_000186.2	Q92902	HPS1_HUMAN	Hermansky-Pudlak syndrome 1	30					lysosome organization|response to stimulus|visual perception	cytoplasmic membrane-bounded vesicle|integral to plasma membrane|lysosome|membrane fraction|soluble fraction	protein dimerization activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23		Colorectal(252;0.234)		Epithelial(162;3.87e-12)|all cancers(201;5.63e-10)		CTGACTGCCCGAACTTCAGCC	0.557									Hermansky-Pudlak syndrome				32	59					0	0	1	0	0	A	100202908	G	A	100202908	2	1	81	1	0	0	0	0	0	0	0	1	7380	1049	37	1		1	HPS1	10	100202908	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	19397	100202908	35331839	8040	11656											
HPSE2	60495	broad.mit.edu	37	10	100481452	100481452	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:100481452A>G	ENST00000370552.3	-	5	977	c.918T>C	c.(916-918)atT>atC	p.I306I	HPSE2_ENST00000404542.1_Silent_p.I194I|HPSE2_ENST00000370546.1_Silent_p.I306I|HPSE2_ENST00000370549.1_Silent_p.I248I	NM_021828.4	NP_068600.4	Q8WWQ2	HPSE2_HUMAN	heparanase 2	306					carbohydrate metabolic process	intracellular|membrane	cation binding|heparanase activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	40				Epithelial(162;1.8e-09)|all cancers(201;4.72e-07)		TCGGCCGCCCAATATTAGGGC	0.438													13	32					0	0	1	0	0	G	100481452	A	G	100481452	2	3	81	1	0	0	0	0	0	0	0	1	7386	126	5	3		3	HPSE2	10	100481452	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	278544	100481452	35053295	8041	11657											
CNNM1	26507	broad.mit.edu	37	10	101124720	101124720	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:101124720G>A	ENST00000356713.4	+	6	2426	c.2137G>A	c.(2137-2139)Gtg>Atg	p.V713M	CNNM1_ENST00000370528.3_Missense_Mutation_p.V642M|CNNM1_ENST00000370534.4_Missense_Mutation_p.V348M|CNNM1_ENST00000446890.1_Missense_Mutation_p.V642M	NM_020348.2	NP_065081.2	Q9NRU3	CNNM1_HUMAN	cyclin M1	713					ion transport	integral to membrane|plasma membrane				NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(5)|ovary(1)|prostate(1)|skin(1)	25		Colorectal(252;0.234)		Epithelial(162;6.82e-10)|all cancers(201;5.62e-08)		AGATAATGACGTGCGGAAGGT	0.512													19	19					0	0	1	0	0	A	101124720	G	A	101124720	3	1	81	1	0	0	0	0	1	0	0	0	3635	1145	40	1	2159	1	CNNM1	10	101124720	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	643268	101124720	34410027	8042	11658											
GOT1	2805	broad.mit.edu	37	10	101163503	101163503	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:101163503G>T	ENST00000370508.5	-	6	798	c.771C>A	c.(769-771)ttC>ttA	p.F257L	GOT1_ENST00000543866.1_Missense_Mutation_p.F236L	NM_002079.2	NP_002070.1	P17174	AATC_HUMAN	glutamic-oxaloacetic transaminase 1, soluble	257					aspartate catabolic process|cellular response to insulin stimulus|gluconeogenesis|response to glucocorticoid stimulus	cytosol	L-aspartate:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)	16		Ovarian(717;0.028)|Colorectal(252;0.234)		Epithelial(162;4.76e-10)|all cancers(201;3.84e-08)	L-Aspartic Acid(DB00128)|L-Cysteine(DB00151)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	AGTTCTTGGAGAAGGACTGGG	0.552													28	45					3.73988e-18	4.8429e-18	1	1	0	T	101163503	G	T	101163503	3	4	81	1	0	0	0	0	1	0	0	0	6618	933	33	4	486	4	GOT1	10	101163503	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	38783	101163503	34371244	8043	11659											
GOT1	2805	broad.mit.edu	37	10	101180553	101180553	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:101180553G>A	ENST00000370508.5	-	2	155	c.128C>T	c.(127-129)aCg>aTg	p.T43M	GOT1_ENST00000543866.1_Missense_Mutation_p.T22M|GOT1_ENST00000471741.1_5'UTR	NM_002079.2	NP_002070.1	P17174	AATC_HUMAN	glutamic-oxaloacetic transaminase 1, soluble	43					aspartate catabolic process|cellular response to insulin stimulus|gluconeogenesis|response to glucocorticoid stimulus	cytosol	L-aspartate:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)	16		Ovarian(717;0.028)|Colorectal(252;0.234)		Epithelial(162;4.76e-10)|all cancers(201;3.84e-08)	L-Aspartic Acid(DB00128)|L-Cysteine(DB00151)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	GCAGTCATCCGTGCGATATGC	0.468													39	66					0	0	1	0	0	A	101180553	G	A	101180553	3	1	81	1	0	0	0	0	1	0	0	0	6618	1145	40	1	1145	1	GOT1	10	101180553	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	17050	101180553	34354194	8044	11660											
SLC25A28	81894	broad.mit.edu	37	10	101373480	101373480	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:101373480G>T	ENST00000370495.4	-	2	521	c.493C>A	c.(493-495)Cct>Act	p.P165T	SLC25A28_ENST00000496035.1_5'UTR	NM_031212.3	NP_112489.3	Q96A46	MFRN2_HUMAN	solute carrier family 25 (mitochondrial iron transporter), member 28	165					ion transport|iron ion homeostasis	integral to membrane|mitochondrial inner membrane				endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|stomach(1)	11		Colorectal(252;0.234)		Epithelial(162;2.57e-10)|all cancers(201;2.01e-08)		TTGCCCCCAGGGTGGATTACA	0.522													4	35					0.00909568	0.00944708	1	1	0	T	101373480	G	T	101373480	3	4	81	1	0	0	0	0	1	0	0	0	14546	1232	43	5	613	5	SLC25A28	10	101373480	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	192927	101373480	34161267	8045	11661											
COX15	1355	broad.mit.edu	37	10	101478228	101478228	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:101478228G>A	ENST00000370483.5	-	7	912	c.862C>T	c.(862-864)Ctt>Ttt	p.L288F	CUTC_ENST00000493385.1_Intron|COX15_ENST00000016171.5_Missense_Mutation_p.L288F	NM_004376.5|NM_078470.4	NP_004367.2|NP_510870.1	Q7KZN9	COX15_HUMAN	cytochrome c oxidase assembly homolog 15 (yeast)	288					heme a biosynthetic process|respiratory chain complex IV assembly|respiratory gaseous exchange	integral to membrane|mitochondrial respiratory chain	cytochrome-c oxidase activity			endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	13		Colorectal(252;0.234)		Epithelial(162;3.08e-10)|all cancers(201;2.43e-08)		TTATAAACAAGCCCAGCATCT	0.433													5	70					0	0	1	0	0	A	101478228	G	A	101478228	3	1	81	1	0	0	0	0	1	0	0	0	3787	971	34	2	452	2	COX15	10	101478228	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	104748	101478228	34056519	8046	11662											
COX15	1355	broad.mit.edu	37	10	101489459	101489459	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:101489459C>T	ENST00000370483.5	-	2	173	c.123G>A	c.(121-123)ggG>ggA	p.G41G	CUTC_ENST00000493385.1_Intron|COX15_ENST00000016171.5_Silent_p.G41G	NM_004376.5|NM_078470.4	NP_004367.2|NP_510870.1	Q7KZN9	COX15_HUMAN	cytochrome c oxidase assembly homolog 15 (yeast)	41					heme a biosynthetic process|respiratory chain complex IV assembly|respiratory gaseous exchange	integral to membrane|mitochondrial respiratory chain	cytochrome-c oxidase activity			endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	13		Colorectal(252;0.234)		Epithelial(162;3.08e-10)|all cancers(201;2.43e-08)		TGCTGTATTGCCCTGGCCTCA	0.532													21	23					0	0	1	0	0	T	101489459	C	T	101489459	2	4	81	1	0	0	0	0	0	0	0	1	3787	726	26	2		2	COX15	10	101489459	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	11231	101489459	34045288	8047	11663											
ABCC2	1244	broad.mit.edu	37	10	101560197	101560197	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:101560197C>A	ENST00000370449.4	+	9	1199	c.1086C>A	c.(1084-1086)ctC>ctA	p.L362L		NM_000392.3	NP_000383	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 2	362	ABC transmembrane type-1 1.					apical plasma membrane|integral to plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67		Colorectal(252;0.234)		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	TTGGATATCTCTGTGCAATCC	0.448													96	204					1.43697e-34	1.92361e-34	1	1	0	A	101560197	C	A	101560197	2	1	81	1	0	0	0	0	0	0	0	1	53	900	32	4		4	ABCC2	10	101560197	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	70738	101560197	33974550	8048	11664											
ABCC2	1244	broad.mit.edu	37	10	101590553	101590553	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:101590553A>G	ENST00000370449.4	+	21	2941	c.2828A>G	c.(2827-2829)gAa>gGa	p.E943G		NM_000392.3	NP_000383	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 2	943						apical plasma membrane|integral to plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67		Colorectal(252;0.234)		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	AAGGAAGACGAAGAACTAGTG	0.418													3	63					0	0	1	0	0	G	101590553	A	G	101590553	3	3	81	1	0	0	0	0	1	0	0	0	53	246	9	3	2910	3	ABCC2	10	101590553	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	30356	101590553	33944194	8049	11665											
DNMBP	23268	broad.mit.edu	37	10	101646233	101646233	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:101646233C>A	ENST00000342239.3	-	13	3605	c.3514G>T	c.(3514-3516)Gag>Tag	p.E1172*	DNMBP_ENST00000543621.1_Nonsense_Mutation_p.E394*|DNMBP_ENST00000472036.1_5'UTR|DNMBP_ENST00000540316.1_Nonsense_Mutation_p.E84*|DNMBP_ENST00000324109.4_Nonsense_Mutation_p.E1148*			Q6XZF7	DNMBP_HUMAN	dynamin binding protein	1148	BAR.				intracellular signal transduction|regulation of Rho protein signal transduction	cell junction|cytoskeleton|Golgi stack|synapse	protein binding|Rho guanyl-nucleotide exchange factor activity			central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		TGCAGCTCCTCCAGGGTCTTC	0.542													49	77					4.01344e-20	5.23454e-20	1	1	0	A	101646233	C	A	101646233	4	1	81	1	0	0	0	0	0	1	0	0	4701	864	30	5	1311	5	DNMBP	10	101646233	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	55680	101646233	33888514	8050	11666											
CPN1	1369	broad.mit.edu	37	10	101816817	101816817	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:101816817G>A	ENST00000370418.3	-	6	1215	c.964C>T	c.(964-966)Cgg>Tgg	p.R322W		NM_001308.2	NP_001299.1	P15169	CBPN_HUMAN	carboxypeptidase N, polypeptide 1	322	Catalytic.				proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	33		Colorectal(252;0.234)		Epithelial(162;4.77e-10)|all cancers(201;3.82e-08)		AGCCACTCCCGCTGTAACTCC	0.453													17	215					0	0	1	0	0	A	101816817	G	A	101816817	3	1	81	1	0	0	0	0	1	0	0	0	3832	1086	38	1	428	1	CPN1	10	101816817	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	170584	101816817	33717930	8051	11667											
CPN1	1369	broad.mit.edu	37	10	101841303	101841303	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:101841303C>T	ENST00000370418.3	-	1	331	c.80G>A	c.(79-81)cGc>cAc	p.R27H		NM_001308.2	NP_001299.1	P15169	CBPN_HUMAN	carboxypeptidase N, polypeptide 1	27	Catalytic.				proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	33		Colorectal(252;0.234)		Epithelial(162;4.77e-10)|all cancers(201;3.82e-08)		ATCATCATAGCGGTGGTGGCG	0.567													8	27					0	0	1	0	0	T	101841303	C	T	101841303	3	4	81	1	0	0	0	0	1	0	0	0	3832	768	27	1	1332	1	CPN1	10	101841303	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	24486	101841303	33693444	8052	11668											
ERLIN1	10613	broad.mit.edu	37	10	101911983	101911983	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:101911983C>A	ENST00000421367.2	-	11	3659	c.952G>T	c.(952-954)Gat>Tat	p.D318Y	ERLIN1_ENST00000407654.3_Missense_Mutation_p.D318Y	NM_001100626.1|NM_006459.3	NP_001094096.1|NP_006450.2	O75477	ERLN1_HUMAN	ER lipid raft associated 1	316					ER-associated protein catabolic process	endoplasmic reticulum membrane|integral to membrane	protein binding	p.D316H(1)					Colorectal(252;0.234)		Epithelial(162;3.85e-10)|all cancers(201;3.25e-08)		GTCCTAATATCTGAATATTTC	0.443													25	44					1.64293e-13	2.07283e-13	1	1	0	A	101911983	C	A	101911983	3	1	81	1	0	0	0	0	1	0	0	0	5260	913	32	4	98	4	ERLIN1	10	101911983	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	70680	101911983	33622764	8053	11669											
ERLIN1	10613	broad.mit.edu	37	10	101912021	101912021	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:101912021T>C	ENST00000421367.2	-	11	3621	c.914A>G	c.(913-915)aAc>aGc	p.N305S	ERLIN1_ENST00000407654.3_Missense_Mutation_p.N305S	NM_001100626.1|NM_006459.3	NP_001094096.1|NP_006450.2	O75477	ERLN1_HUMAN	ER lipid raft associated 1	303					ER-associated protein catabolic process	endoplasmic reticulum membrane|integral to membrane	protein binding						Colorectal(252;0.234)		Epithelial(162;3.85e-10)|all cancers(201;3.25e-08)		CACGAACATGTTAGGGATGTT	0.468													7	74					0	0	1	0	0	C	101912021	T	C	101912021	3	2	81	1	0	0	0	0	1	0	0	0	5260	1725	60	3	136	3	ERLIN1	10	101912021	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	38	101912021	33622726	8054	11670											
CWF19L1	55280	broad.mit.edu	37	10	102005616	102005616	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:102005616G>A	ENST00000354105.4	-	9	990	c.904C>T	c.(904-906)Cgt>Tgt	p.R302C	CWF19L1_ENST00000478047.1_Intron|CWF19L1_ENST00000370379.1_Missense_Mutation_p.R57C	NM_018294.4	NP_060764.3	Q69YN2	C19L1_HUMAN	CWF19-like 1, cell cycle control (S. pombe)	302							catalytic activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|stomach(2)	17		Colorectal(252;0.117)		Epithelial(162;3.78e-10)|all cancers(201;3.1e-08)		GTGGATGAACGCTTCCTTCCC	0.398													11	87					0	0	1	0	0	A	102005616	G	A	102005616	3	1	81	1	0	0	0	0	1	0	0	0	4094	1087	38	1	736	1	CWF19L1	10	102005616	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	93595	102005616	33529131	8055	11671											
CWF19L1	55280	broad.mit.edu	37	10	102005653	102005653	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:102005653C>A	ENST00000354105.4	-	9	953	c.867G>T	c.(865-867)caG>caT	p.Q289H	CWF19L1_ENST00000478047.1_Intron|CWF19L1_ENST00000370379.1_Missense_Mutation_p.Q44H	NM_018294.4	NP_060764.3	Q69YN2	C19L1_HUMAN	CWF19-like 1, cell cycle control (S. pombe)	289							catalytic activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|stomach(2)	17		Colorectal(252;0.117)		Epithelial(162;3.78e-10)|all cancers(201;3.1e-08)		CAAAGAAAAACTGACAGGCTG	0.413													23	49					1.22574e-08	1.46304e-08	1	1	0	A	102005653	C	A	102005653	3	1	81	1	0	0	0	0	1	0	0	0	4094	564	20	4	773	4	CWF19L1	10	102005653	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	37	102005653	33529094	8056	11672											
PKD2L1	9033	broad.mit.edu	37	10	102054794	102054794	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:102054794G>A	ENST00000318222.3	-	8	1825	c.1443C>T	c.(1441-1443)gcC>gcT	p.A481A	PKD2L1_ENST00000353274.3_Silent_p.A481A|PKD2L1_ENST00000338519.3_Silent_p.A406A	NM_001253837.1|NM_016112.2	NP_001240766.1|NP_057196.2	Q9P0L9	PK2L1_HUMAN	polycystic kidney disease 2-like 1	481					signal transduction	integral to membrane	calcium activated cation channel activity|calcium ion binding|cytoskeletal protein binding	p.A481A(1)		NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	43		Colorectal(252;0.117)		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)		AGAACATGACGGCGAAGCCCA	0.507													35	50					0	0	1	0	0	A	102054794	G	A	102054794	2	1	81	1	0	0	0	0	0	0	0	1	12015	1103	39	1		1	PKD2L1	10	102054794	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	49141	102054794	33479953	8057	11673											
PKD2L1	9033	broad.mit.edu	37	10	102056783	102056783	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:102056783C>T	ENST00000318222.3	-	6	1521	c.1139G>A	c.(1138-1140)cGc>cAc	p.R380H	PKD2L1_ENST00000353274.3_Missense_Mutation_p.R380H|PKD2L1_ENST00000338519.3_Missense_Mutation_p.R305H	NM_001253837.1|NM_016112.2	NP_001240766.1|NP_057196.2	Q9P0L9	PK2L1_HUMAN	polycystic kidney disease 2-like 1	380					signal transduction	integral to membrane	calcium activated cation channel activity|calcium ion binding|cytoskeletal protein binding			NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	43		Colorectal(252;0.117)		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)		GCTGAGGTAGCGAAGCCGGTG	0.512													16	24					0	0	1	0	0	T	102056783	C	T	102056783	3	4	81	1	0	0	0	0	1	0	0	0	12015	768	27	1	1322	1	PKD2L1	10	102056783	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1989	102056783	33477964	8058	11674											
WNT8B	7479	broad.mit.edu	37	10	102242454	102242454	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:102242454T>G	ENST00000343737.5	+	6	1065	c.937T>G	c.(937-939)Ttc>Gtc	p.F313V		NM_003393.3	NP_003384.2	Q93098	WNT8B_HUMAN	wingless-type MMTV integration site family, member 8B	313					anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|determination of dorsal identity|endoderm development|eye development|gastrulation|hypothalamus development|negative regulation of anterior neural cell fate commitment of the neural plate by Wnt receptor signaling pathway|otic placode formation|positive regulation of gene expression|response to estradiol stimulus|Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity			breast(1)|large_intestine(1)|ovary(1)|skin(1)	4		Colorectal(252;0.117)		Epithelial(162;1.87e-10)|all cancers(201;1.64e-08)		CAACTGCAAGTTCCACTGGTG	0.726											OREG0020440	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	14					0	0	1	0	0	G	102242454	T	G	102242454	3	3	81	1	0	0	0	0	1	0	0	0	17457	1725	60	5	959	5	WNT8B	10	102242454	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	185671	102242454	33292293	8059	11675											
SEC31B	25956	broad.mit.edu	37	10	102265250	102265250	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:102265250G>T	ENST00000370345.3	-	10	1144	c.1047C>A	c.(1045-1047)atC>atA	p.I349I	SEC31B_ENST00000451524.1_Silent_p.I349I	NM_015490.3	NP_056305.1	Q9NQW1	SC31B_HUMAN	SEC31 homolog B (S. cerevisiae)	349					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane				NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1)	36		Colorectal(252;0.117)		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)		AGGAAGAGGAGATCTGGGGGG	0.532													5	75					1.23904e-05	1.39156e-05	1	1	0	T	102265250	G	T	102265250	2	4	81	1	0	0	0	0	0	0	0	1	14053	932	33	4		4	SEC31B	10	102265250	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	22796	102265250	33269497	8060	11676											
HIF1AN	55662	broad.mit.edu	37	10	102306288	102306288	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:102306288G>T	ENST00000299163.6	+	6	944	c.844G>T	c.(844-846)Gag>Tag	p.E282*		NM_017902.2	NP_060372.2	Q9NWT6	HIF1N_HUMAN	hypoxia inducible factor 1, alpha subunit inhibitor		Interaction with HIF1A.|Interaction with VHL.|JmjC.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity|protein binding			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(1)|prostate(2)|urinary_tract(1)	10		Colorectal(252;0.234)		Epithelial(162;6.75e-10)|all cancers(201;4.88e-08)		GCATCACATAGAGTCATTACT	0.488													9	123					0.000442599	0.000477972	1	1	0	T	102306288	G	T	102306288	4	4	81	1	0	0	0	0	0	1	0	0	7145	943	33	4	866	4	HIF1AN	10	102306288	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	41038	102306288	33228459	8061	11677											
SEMA4G	57715	broad.mit.edu	37	10	102743539	102743539	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:102743539C>A	ENST00000210633.3	+	14	2261	c.2183C>A	c.(2182-2184)tCt>tAt	p.S728Y	MRPL43_ENST00000342071.1_Missense_Mutation_p.D210Y|MRPL43_ENST00000370241.3_Missense_Mutation_p.Q167H|MRPL43_ENST00000318325.2_Missense_Mutation_p.Q167H|RP11-108L7.4_ENST00000447344.1_RNA|SEMA4G_ENST00000517724.1_Intron|MRPL43_ENST00000370242.4_Missense_Mutation_p.D210Y|MRPL43_ENST00000299179.5_Missense_Mutation_p.Q167H|SEMA4G_ENST00000370250.4_Missense_Mutation_p.S723Y			Q9NTN9	SEM4G_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4G	723					cell differentiation|nervous system development	integral to membrane	receptor activity			breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Colorectal(252;0.234)		Epithelial(162;3.71e-09)|all cancers(201;2.1e-07)		GCAGGAGGATCTGCGGTGCAA	0.642													4	7					0.150653	0.152522	1	1	0	A	102743539	C	A	102743539	3	1	81	1	0	0	0	0	1	0	0	0	14090	913	32	4	2237	4	SEMA4G	10	102743539	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	437251	102743539	32791208	8062	11678											
C10orf2	56652	broad.mit.edu	37	10	102748108	102748108	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:102748108C>A	ENST00000370228.1	+	1	326	c.141C>A	c.(139-141)gcC>gcA	p.A47A	C10orf2_ENST00000311916.2_Silent_p.A47A|C10orf2_ENST00000473656.1_Intron	NM_001163812.1|NM_001163814.1	NP_001157284.1|NP_001157286.1	Q96RR1	PEO1_HUMAN	chromosome 10 open reading frame 2	47					cell death|mitochondrial DNA replication|protein hexamerization|protein homooligomerization|transcription from mitochondrial promoter	mitochondrial nucleoid	5'-3' DNA helicase activity|ATP binding|protease binding|single-stranded DNA binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|stomach(1)	24		Colorectal(252;0.122)|all_hematologic(284;0.152)		Epithelial(162;7.18e-11)|all cancers(201;8.75e-09)|BRCA - Breast invasive adenocarcinoma(275;0.224)		CTCTCCAAGCCTTGGATATGC	0.607													11	71					6.40141e-05	7.07494e-05	1	1	0	A	102748108	C	A	102748108	2	1	81	1	0	0	0	0	0	0	0	1	1601	668	24	4		4	C10orf2	10	102748108	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	4569	102748108	32786639	8063	11679											
LZTS2	84445	broad.mit.edu	37	10	102763514	102763514	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:102763514C>A	ENST00000370220.1	+	2	3722	c.659C>A	c.(658-660)tCt>tAt	p.S220Y	LZTS2_ENST00000370223.3_Missense_Mutation_p.S220Y			Q9BRK4	LZTS2_HUMAN	leucine zipper, putative tumor suppressor 2	220	Required for centrosomal localization (By similarity).|Ser-rich.				cell division|mitosis|Wnt receptor signaling pathway	membrane|microtubule|microtubule organizing center				breast(1)|large_intestine(6)|lung(7)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22				Epithelial(162;7.3e-09)|all cancers(201;3.72e-07)		CTATCCGACTCTGGCCGAAAC	0.647													9	124					0.0477658	0.0487066	1	1	0	A	102763514	C	A	102763514	3	1	81	1	0	0	0	0	1	0	0	0	9185	913	32	4	665	4	LZTS2	10	102763514	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	15406	102763514	32771233	8064	11680											
PDZD7	79955	broad.mit.edu	37	10	102783729	102783729	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:102783729C>A	ENST00000370215.3	-	3	548	c.323G>T	c.(322-324)gGc>gTc	p.G108V	PDZD7_ENST00000470414.1_Missense_Mutation_p.G108V	NM_024895.4	NP_079171.1	Q9H5P4	PDZD7_HUMAN	PDZ domain containing 7	108	PDZ 1.					cilium|nucleus	protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22				Epithelial(162;6.98e-09)|all cancers(201;3.55e-07)		GATGCCCAGGCCATGCTCTGA	0.577													30	36					1.21669e-08	1.4531e-08	1	1	0	A	102783729	C	A	102783729	3	1	81	1	0	0	0	0	1	0	0	0	11751	739	26	5	1262	5	PDZD7	10	102783729	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	20215	102783729	32751018	8065	11681											
BTRC	8945	broad.mit.edu	37	10	103292718	103292718	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:103292718delA	ENST00000370187.3	+	9	1106	c.988delA	c.(988-990)aaafs	p.K330fs	BTRC_ENST00000408038.2_Frame_Shift_Del_p.K294fs|BTRC_ENST00000393441.4_Frame_Shift_Del_p.K289fs	NM_033637.3	NP_378663.1	Q9Y297	FBW1A_HUMAN	beta-transducin repeat containing E3 ubiquitin protein ligase	330					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|positive regulation of proteolysis|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|viral reproduction|Wnt receptor signaling pathway	cytosol|nucleus|SCF ubiquitin ligase complex				endometrium(4)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	27		Colorectal(252;0.234)		Epithelial(162;1.05e-08)|all cancers(201;6.59e-07)		GATCTGGGATAAAAACACATT	0.438													8	112	---	---	---	---						-	103292718	A	-	103292718	7	5	81	1	0	1	0	1	0	0	0	0	1572	363	13	0	1022	0	BTRC	10	103292718	Frame_Shift_Del	DEL	A	TCGA-DU-6392-01A-11D-1705-08	508989	103292718	32242029	8066	11682											
POLL	27343	broad.mit.edu	37	10	103345153	103345153	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:103345153C>T	ENST00000370162.3	-	4	987	c.493G>A	c.(493-495)Gcc>Acc	p.A165T	DPCD_ENST00000416979.2_Intron|POLL_ENST00000456836.2_Intron|DPCD_ENST00000470165.1_Intron|POLL_ENST00000339310.3_Intron|POLL_ENST00000370158.3_Intron|POLL_ENST00000370172.1_Missense_Mutation_p.A77T|POLL_ENST00000370169.1_Missense_Mutation_p.A165T|POLL_ENST00000436284.2_Intron|POLL_ENST00000299206.4_Missense_Mutation_p.A165T	NM_001174084.1|NM_001174085.1|NM_013274.3	NP_001167555.1|NP_001167556.1|NP_037406.1	Q9UGP5	DPOLL_HUMAN	polymerase (DNA directed), lambda	165					DNA replication|nucleotide-excision repair|somatic hypermutation of immunoglobulin genes	nucleus	DNA binding|DNA-directed DNA polymerase activity|lyase activity|metal ion binding			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(2)	19		Colorectal(252;0.234)		Epithelial(162;1.55e-08)|all cancers(201;6.64e-07)		GGAGAAAGGGCTGTCTGAAGC	0.597								DNA polymerases (catalytic subunits)					24	42					0	0	1	0	0	T	103345153	C	T	103345153	3	4	81	1	0	0	0	0	1	0	0	0	12253	797	28	2	1258	2	POLL	10	103345153	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	52435	103345153	32189594	8067	11683											
C10orf76	79591	broad.mit.edu	37	10	103753315	103753315	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:103753315G>A	ENST00000370033.4	-	17	1374	c.1255C>T	c.(1255-1257)Cga>Tga	p.R419*		NM_024541.2	NP_078817.2	Q5T2E6	CJ076_HUMAN	chromosome 10 open reading frame 76	419						integral to membrane				autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|upper_aerodigestive_tract(2)	24		Colorectal(252;0.123)		Epithelial(162;2.41e-08)|all cancers(201;6.41e-07)		AAGTTTACTCGAAAATTCATG	0.313													24	40					0	0	1	0	0	A	103753315	G	A	103753315	4	1	81	1	0	0	0	0	0	1	0	0	1620	1066	37	1	854	1	C10orf76	10	103753315	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	408162	103753315	31781432	8068	11684											
C10orf76	79591	broad.mit.edu	37	10	103784949	103784949	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:103784949C>A	ENST00000370033.4	-	6	590	c.471G>T	c.(469-471)aaG>aaT	p.K157N		NM_024541.2	NP_078817.2	Q5T2E6	CJ076_HUMAN	chromosome 10 open reading frame 76	157						integral to membrane				autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|upper_aerodigestive_tract(2)	24		Colorectal(252;0.123)		Epithelial(162;2.41e-08)|all cancers(201;6.41e-07)		GACATAAACTCTTCAGACTTT	0.393													42	72					6.27289e-28	8.33992e-28	1	1	0	A	103784949	C	A	103784949	3	1	81	1	0	0	0	0	1	0	0	0	1620	912	32	4	1682	4	C10orf76	10	103784949	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	31634	103784949	31749798	8069	11685											
HPS6	79803	broad.mit.edu	37	10	103827248	103827248	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:103827248C>T	ENST00000299238.5	+	1	2102	c.2017C>T	c.(2017-2019)Ctg>Ttg	p.L673L		NM_024747.5	NP_079023.2	Q86YV9	HPS6_HUMAN	Hermansky-Pudlak syndrome 6	673						cytosol|early endosome membrane|endoplasmic reticulum|microsome				endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)	11		Colorectal(252;0.122)		Epithelial(162;5.93e-08)|all cancers(201;1.03e-06)		AATCTTCAAACTGCTGCTGGC	0.627									Hermansky-Pudlak syndrome				24	40					0	0	1	0	0	T	103827248	C	T	103827248	2	4	81	1	0	0	0	0	0	0	0	1	7384	564	20	2		2	HPS6	10	103827248	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	42299	103827248	31707499	8070	11686											
LDB1	8861	broad.mit.edu	37	10	103869749	103869749	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:103869749G>A	ENST00000361198.5	-	7	1092	c.469C>T	c.(469-471)Cgg>Tgg	p.R157W	LDB1_ENST00000425280.1_Missense_Mutation_p.R193W	NM_003893.4	NP_003884.1	Q86U70	LDB1_HUMAN	LIM domain binding 1	193					histone H3-K4 acetylation|negative regulation of erythrocyte differentiation|negative regulation of transcription, DNA-dependent|positive regulation of hemoglobin biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription elongation, DNA-dependent|transcription, DNA-dependent|transcription-dependent tethering of RNA polymerase II gene DNA at nuclear periphery	nuclear chromatin|protein complex	LIM domain binding|protein homodimerization activity|transcription corepressor activity	p.R157W(1)		breast(1)|central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)	21		Colorectal(252;0.122)		Epithelial(162;1.11e-07)|all cancers(201;1.82e-06)		GTCTTTATCCGCATCATGTCG	0.587													17	23					0	0	1	0	0	A	103869749	G	A	103869749	3	1	81	1	0	0	0	0	1	0	0	0	8734	1086	38	1	678	1	LDB1	10	103869749	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	42501	103869749	31664998	8071	11687											
LDB1	8861	broad.mit.edu	37	10	103870645	103870645	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:103870645C>T	ENST00000361198.5	-	5	848	c.225G>A	c.(223-225)gaG>gaA	p.E75E	LDB1_ENST00000490751.1_5'UTR|LDB1_ENST00000425280.1_Silent_p.E111E	NM_003893.4	NP_003884.1	Q86U70	LDB1_HUMAN	LIM domain binding 1	111					histone H3-K4 acetylation|negative regulation of erythrocyte differentiation|negative regulation of transcription, DNA-dependent|positive regulation of hemoglobin biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription elongation, DNA-dependent|transcription, DNA-dependent|transcription-dependent tethering of RNA polymerase II gene DNA at nuclear periphery	nuclear chromatin|protein complex	LIM domain binding|protein homodimerization activity|transcription corepressor activity			breast(1)|central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)	21		Colorectal(252;0.122)		Epithelial(162;1.11e-07)|all cancers(201;1.82e-06)		TTGGTCCATCCTCCAGGCAGA	0.498													30	48					0	0	1	0	0	T	103870645	C	T	103870645	2	4	81	1	0	0	0	0	0	0	0	1	8734	680	24	2		2	LDB1	10	103870645	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	896	103870645	31664102	8072	11688											
PPRC1	23082	broad.mit.edu	37	10	103899528	103899528	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:103899528G>T	ENST00000278070.2	+	5	1302	c.1263G>T	c.(1261-1263)aaG>aaT	p.K421N	PPRC1_ENST00000413464.2_Missense_Mutation_p.K421N	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	421					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		CAGAGGAGAAGCTGGACTCAG	0.572													12	88					1.08611e-07	1.27405e-07	1	1	0	T	103899528	G	T	103899528	3	4	81	1	0	0	0	0	1	0	0	0	12459	962	34	4	1281	4	PPRC1	10	103899528	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	28883	103899528	31635219	8073	11689											
NOLC1	9221	broad.mit.edu	37	10	103916958	103916958	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:103916958C>T	ENST00000405356.1	+	3	424	c.189C>T	c.(187-189)gtC>gtT	p.V63V	NOLC1_ENST00000605788.1_Silent_p.V63V|NOLC1_ENST00000603742.1_Intron|NOLC1_ENST00000488254.2_Silent_p.V64V	NM_001284388.1	NP_001271317.1	Q14978	NOLC1_HUMAN	nucleolar and coiled-body phosphoprotein 1	63					mitosis|rRNA processing	cytoplasm|nucleolus	ATP binding|GTP binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	31		Colorectal(252;0.122)		Epithelial(162;5.19e-08)|all cancers(201;9.43e-07)		CTGCCAAGGTCCCAGAGCGAA	0.512													32	54					0	0	1	0	0	T	103916958	C	T	103916958	2	4	81	1	0	0	0	0	0	0	0	1	10576	842	30	2		2	NOLC1	10	103916958	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	17430	103916958	31617789	8074	11690											
ELOVL3	83401	broad.mit.edu	37	10	103987505	103987505	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:103987505C>T	ENST00000370005.3	+	2	445	c.224C>T	c.(223-225)gCa>gTa	p.A75V		NM_152310.1	NP_689523.1	Q9HB03	ELOV3_HUMAN	ELOVL fatty acid elongase 3	75					fatty acid elongation, monounsaturated fatty acid|fatty acid elongation, polyunsaturated fatty acid|fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	fatty acid elongase activity|protein binding			breast(2)|lung(10)|ovary(2)|prostate(1)|skin(1)	16		Colorectal(252;0.207)		Epithelial(162;4.47e-08)|all cancers(201;7.96e-07)		TTCTGCCTTGCAATCTTCAGG	0.522													36	49					0	0	1	0	0	T	103987505	C	T	103987505	3	4	81	1	0	0	0	0	1	0	0	0	5103	710	25	2	230	2	ELOVL3	10	103987505	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	70547	103987505	31547242	8075	11691											
GBF1	8729	broad.mit.edu	37	10	104120794	104120794	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:104120794C>T	ENST00000369983.3	+	13	1665	c.1405C>T	c.(1405-1407)Cga>Tga	p.R469*	GBF1_ENST00000476019.1_3'UTR	NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN	golgi brefeldin A resistant guanine nucleotide exchange factor 1	469					COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		CAGCATAGAGCGACTAAACCT	0.473													52	110					0	0	1	0	0	T	104120794	C	T	104120794	4	4	81	1	0	0	0	0	0	1	0	0	6311	760	27	1	1451	1	GBF1	10	104120794	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	133289	104120794	31413953	8076	11692											
GBF1	8729	broad.mit.edu	37	10	104136704	104136704	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:104136704A>C	ENST00000369983.3	+	33	4558	c.4298A>C	c.(4297-4299)cAg>cCg	p.Q1433P		NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN	golgi brefeldin A resistant guanine nucleotide exchange factor 1	1433					COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		TGCAAGTCCCAGGAGAAACGT	0.517													4	47					0	0	1	0	0	C	104136704	A	C	104136704	3	2	81	1	0	0	0	0	1	0	0	0	6311	188	7	5	4424	5	GBF1	10	104136704	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	15910	104136704	31398043	8077	11693											
NFKB2	4791	broad.mit.edu	37	10	104157744	104157744	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:104157744C>T	ENST00000369966.3	+	9	918	c.668C>T	c.(667-669)cCg>cTg	p.P223L	NFKB2_ENST00000428099.1_Missense_Mutation_p.P223L|NFKB2_ENST00000189444.6_Missense_Mutation_p.P223L	NM_001077494.2	NP_001070962.1	Q00653	NFKB2_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)	223	RHD.				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	Bcl3/NF-kappaB2 complex|cytosol|nucleoplasm	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|skin(2)	23		Colorectal(252;0.00957)		Epithelial(162;3.4e-08)|all cancers(201;6.41e-07)		ATAGAATCTCCGGGGGCATCA	0.478			T	IGH@	B-NHL								37	66					0	0	1	0	0	T	104157744	C	T	104157744	3	4	81	1	0	0	0	0	1	0	0	0	10423	652	23	1	698	1	NFKB2	10	104157744	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	21040	104157744	31377003	8078	11694											
PSD	5662	broad.mit.edu	37	10	104176346	104176346	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:104176346C>T	ENST00000020673.5	-	2	976	c.450G>A	c.(448-450)cgG>cgA	p.R150R	PSD_ENST00000406432.1_Silent_p.R150R	NM_001270966.1|NM_002779.4	NP_001257895.1|NP_002770.3	A5PKW4	PSD1_HUMAN	pleckstrin and Sec7 domain containing	150	Pro-rich.				regulation of ARF protein signal transduction	cytoplasm|plasma membrane|ruffle	ARF guanyl-nucleotide exchange factor activity|signal transducer activity			breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		ATGCTTCCAGCCGTAACTTCC	0.667													11	19					0	0	1	0	0	T	104176346	C	T	104176346	2	4	81	1	0	0	0	0	0	0	0	1	12695	726	26	2		2	PSD	10	104176346	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	18602	104176346	31358401	8079	11695											
CUEDC2	79004	broad.mit.edu	37	10	104184302	104184302	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:104184302G>A	ENST00000369937.4	-	4	379	c.234C>T	c.(232-234)gaC>gaT	p.D78D		NM_024040.2	NP_076945.2	Q9H467	CUED2_HUMAN	CUE domain containing 2	78						cytoplasm|nucleus	protein binding			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(1)|stomach(1)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.122)		Epithelial(162;9.17e-09)|all cancers(201;2.16e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		TCTGCATCATGTCCCCTATTG	0.582													49	82					0	0	1	0	0	A	104184302	G	A	104184302	2	1	81	1	0	0	0	0	0	0	0	1	4076	1368	48	2		2	CUEDC2	10	104184302	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	7956	104184302	31350445	8080	11696											
SUFU	51684	broad.mit.edu	37	10	104386977	104386977	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:104386977G>A	ENST00000369902.3	+	11	1508	c.1342G>A	c.(1342-1344)Gaa>Aaa	p.E448K		NM_016169.3	NP_057253.2	Q9UMX1	SUFU_HUMAN	suppressor of fused homolog (Drosophila)	448					negative regulation of transcription from RNA polymerase II promoter|proteolysis|skeletal system development	cytoplasm|nucleus	identical protein binding|protein binding|signal transducer activity|transcription corepressor activity|transcription factor binding			breast(2)|central_nervous_system(7)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(2)	24		Colorectal(252;0.207)		Epithelial(162;1.36e-08)|all cancers(201;3.81e-07)|BRCA - Breast invasive adenocarcinoma(275;0.242)		GGAGGATTTAGAAGATTTGAC	0.423			"D, F, S"		medulloblastoma	medulloblastoma			Medulloblastoma, associated with Germline SUFU Mutation				53	106					0	0	1	0	0	A	104386977	G	A	104386977	3	1	81	1	0	0	0	0	1	0	0	0	15424	943	33	2	1394	2	SUFU	10	104386977	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	202675	104386977	31147770	8081	11697											
TRIM8	81603	broad.mit.edu	37	10	104414976	104414976	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:104414976C>T	ENST00000302424.7	+	3	928	c.806C>T	c.(805-807)gCg>gTg	p.A269V	TRIM8_ENST00000487927.1_3'UTR	NM_030912.2	NP_112174.2	Q9BZR9	TRIM8_HUMAN	tripartite motif containing 8							cytoplasm|PML body	ligase activity|protein homodimerization activity|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15		Colorectal(252;0.122)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		GCAGCGCAGGCGCTGCACCTC	0.622													32	46					0	0	1	0	0	T	104414976	C	T	104414976	3	4	81	1	0	0	0	0	1	0	0	0	16609	768	27	1	816	1	TRIM8	10	104414976	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	27999	104414976	31119771	8082	11698											
TRIM8	81603	broad.mit.edu	37	10	104416970	104416970	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:104416970G>A	ENST00000302424.7	+	6	1637	c.1515G>A	c.(1513-1515)ccG>ccA	p.P505P		NM_030912.2	NP_112174.2	Q9BZR9	TRIM8_HUMAN	tripartite motif containing 8							cytoplasm|PML body	ligase activity|protein homodimerization activity|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15		Colorectal(252;0.122)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		ACTCACACCCGCTCCCGCCCA	0.667													10	15					0	0	1	0	0	A	104416970	G	A	104416970	2	1	81	1	0	0	0	0	0	0	0	1	16609	1074	38	1		1	TRIM8	10	104416970	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1994	104416970	31117777	8083	11699											
PCGF6	84108	broad.mit.edu	37	10	105086326	105086326	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:105086326G>T	ENST00000369847.3	-	8	941	c.874C>A	c.(874-876)Ctc>Atc	p.L292I	PCGF6_ENST00000490296.1_5'UTR|PCGF6_ENST00000337211.4_Missense_Mutation_p.L217I	NM_001011663.1	NP_001011663.1	Q9BYE7	PCGF6_HUMAN	polycomb group ring finger 6	292					negative regulation of transcription, DNA-dependent	PcG protein complex	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(3)	8		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;2.57e-09)|all cancers(201;7.21e-08)|BRCA - Breast invasive adenocarcinoma(275;0.205)		TTTCTTCTGAGGAATTTTTCT	0.348													9	64					1.76689e-08	2.10148e-08	1	1	0	T	105086326	G	T	105086326	3	4	81	1	0	0	0	0	1	0	0	0	11625	1000	35	4	190	4	PCGF6	10	105086326	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	669356	105086326	30448421	8084	11700											
PDCD11	22984	broad.mit.edu	37	10	105160228	105160228	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:105160228C>T	ENST00000369797.3	+	3	271	c.177C>T	c.(175-177)atC>atT	p.I59I		NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	59					mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		AGTTGAAAATCGAAAAGAGAG	0.418													28	59					0	0	1	0	0	T	105160228	C	T	105160228	2	4	81	1	0	0	0	0	0	0	0	1	11664	874	31	1		1	PDCD11	10	105160228	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	73902	105160228	30374519	8085	11701											
PDCD11	22984	broad.mit.edu	37	10	105176259	105176259	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:105176259T>C	ENST00000369797.3	+	13	1624	c.1530T>C	c.(1528-1530)tgT>tgC	p.C510C		NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	510	S1 motif 5.				mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		TTTTGCTTTGTGACCCTGAAG	0.488											OREG0020494	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	98					0	0	1	0	0	C	105176259	T	C	105176259	2	2	81	1	0	0	0	0	0	0	0	1	11664	1702	59	3		3	PDCD11	10	105176259	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	16031	105176259	30358488	8086	11702											
PDCD11	22984	broad.mit.edu	37	10	105185237	105185237	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:105185237C>T	ENST00000369797.3	+	20	3354	c.3260C>T	c.(3259-3261)aCg>aTg	p.T1087M		NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	1087	S1 motif 9.				mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		GTTGGGAAGACGGTCACTGCC	0.532													10	15					0	0	1	0	0	T	105185237	C	T	105185237	3	4	81	1	0	0	0	0	1	0	0	0	11664	536	19	1	3334	1	PDCD11	10	105185237	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	8978	105185237	30349510	8087	11703											
PDCD11	22984	broad.mit.edu	37	10	105199624	105199624	+	Splice_Site	SNP	C	C	T	rs113940597		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:105199624C>T	ENST00000369797.3	+	28	4241	c.4147C>T	c.(4147-4149)Cgc>Tgc	p.R1383C		NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	1383	S1 motif 12.				mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		CAGGGTCCTACGGTAGGTGCC	0.522													32	26					0	0	1	0	0	T	105199624	C	T	105199624	5	4	81	1	0	0	0	0	0	0	1	0	11664	550	19	1	4253	1	PDCD11	10	105199624	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	14387	105199624	30335123	8088	11704											
SH3PXD2A	9644	broad.mit.edu	37	10	105361942	105361942	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:105361942G>A	ENST00000369774.4	-	15	3309	c.3033C>T	c.(3031-3033)ggC>ggT	p.G1011G	SH3PXD2A_ENST00000427662.2_Intron|SH3PXD2A_ENST00000540321.1_Silent_p.G878G|SH3PXD2A_ENST00000315994.6_5'UTR|SH3PXD2A_ENST00000355946.2_Silent_p.G983G|SH3PXD2A_ENST00000538130.1_Silent_p.G846G			Q5TCZ1	SPD2A_HUMAN	SH3 and PX domains 2A	1011					cell communication|superoxide metabolic process	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38		Colorectal(252;0.0815)|Breast(234;0.131)		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)		TCCGTCGGACGCCTCGGAGGC	0.677													19	38					0	0	1	0	0	A	105361942	G	A	105361942	2	1	81	1	0	0	0	0	0	0	0	1	14311	1074	38	1		1	SH3PXD2A	10	105361942	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	162318	105361942	30172805	8089	11705											
SH3PXD2A	9644	broad.mit.edu	37	10	105362350	105362350	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:105362350G>A	ENST00000369774.4	-	15	2901	c.2625C>T	c.(2623-2625)agC>agT	p.S875S	SH3PXD2A_ENST00000427662.2_Intron|SH3PXD2A_ENST00000540321.1_Silent_p.S742S|SH3PXD2A_ENST00000315994.6_5'UTR|SH3PXD2A_ENST00000355946.2_Silent_p.S847S|SH3PXD2A_ENST00000538130.1_Silent_p.S710S			Q5TCZ1	SPD2A_HUMAN	SH3 and PX domains 2A	875	SH3 4.				cell communication|superoxide metabolic process	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38		Colorectal(252;0.0815)|Breast(234;0.131)		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)		ACCACCACCCGCTCTCCTGCT	0.617													23	27					0	0	1	0	0	A	105362350	G	A	105362350	2	1	81	1	0	0	0	0	0	0	0	1	14311	1078	38	1		1	SH3PXD2A	10	105362350	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	408	105362350	30172397	8090	11706											
SH3PXD2A	9644	broad.mit.edu	37	10	105362637	105362637	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:105362637G>A	ENST00000369774.4	-	15	2614	c.2338C>T	c.(2338-2340)Cgc>Tgc	p.R780C	SH3PXD2A_ENST00000427662.2_Intron|SH3PXD2A_ENST00000540321.1_Missense_Mutation_p.R647C|SH3PXD2A_ENST00000315994.6_5'UTR|SH3PXD2A_ENST00000355946.2_Missense_Mutation_p.R752C|SH3PXD2A_ENST00000538130.1_Missense_Mutation_p.R615C			Q5TCZ1	SPD2A_HUMAN	SH3 and PX domains 2A	780					cell communication|superoxide metabolic process	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38		Colorectal(252;0.0815)|Breast(234;0.131)		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)		CTCAGCTGGCGCCGTAAAGTG	0.642													17	226					0	0	1	0	0	A	105362637	G	A	105362637	3	1	81	1	0	0	0	0	1	0	0	0	14311	1087	38	1	1067	1	SH3PXD2A	10	105362637	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	287	105362637	30172110	8091	11707											
SH3PXD2A	9644	broad.mit.edu	37	10	105377025	105377025	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:105377025G>A	ENST00000369774.4	-	11	1125	c.849C>T	c.(847-849)gaC>gaT	p.D283D	SH3PXD2A_ENST00000427662.2_Silent_p.D145D|SH3PXD2A_ENST00000540321.1_Silent_p.D150D|SH3PXD2A_ENST00000315994.6_5'UTR|SH3PXD2A_ENST00000355946.2_Silent_p.D255D|SH3PXD2A_ENST00000538130.1_Silent_p.D118D			Q5TCZ1	SPD2A_HUMAN	SH3 and PX domains 2A	283	SH3 2.				cell communication|superoxide metabolic process	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38		Colorectal(252;0.0815)|Breast(234;0.131)		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)		AGCCAATCTCGTCCTTGCTTT	0.527													6	46					0	0	1	0	0	A	105377025	G	A	105377025	2	1	81	1	0	0	0	0	0	0	0	1	14311	1136	40	1		1	SH3PXD2A	10	105377025	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	14388	105377025	30157722	8092	11708											
OBFC1	79991	broad.mit.edu	37	10	105677256	105677256	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:105677256C>T	ENST00000224950.3	-	2	264	c.97G>A	c.(97-99)Gat>Aat	p.D33N	OBFC1_ENST00000466828.1_5'UTR|OBFC1_ENST00000369764.1_Missense_Mutation_p.D33N	NM_024928.4	NP_079204.2	Q9H668	STN1_HUMAN	oligonucleotide/oligosaccharide-binding fold containing 1	33					positive regulation of DNA replication|telomere maintenance via telomere lengthening		protein binding|single-stranded telomeric DNA binding			large_intestine(3)|lung(7)|ovary(1)|pancreas(2)	13		Colorectal(252;0.178)		Epithelial(162;3.39e-10)|all cancers(201;1.32e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0151)		TCCAGGATATCCCTGATGTAG	0.562													23	29					0	0	1	0	0	T	105677256	C	T	105677256	3	4	81	1	0	0	0	0	1	0	0	0	10855	855	30	2	1045	2	OBFC1	10	105677256	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	300231	105677256	29857491	8093	11709											
SLK	9748	broad.mit.edu	37	10	105765355	105765355	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:105765355C>T	ENST00000369755.3	+	10	2931	c.2386C>T	c.(2386-2388)Cgc>Tgc	p.R796C	SLK_ENST00000335753.4_Missense_Mutation_p.R796C	NM_014720.2	NP_055535.2	Q9H2G2	SLK_HUMAN	STE20-like kinase	796					apoptosis|nucleotide-excision repair	cytoplasm|plasma membrane	ATP binding|DNA binding|nuclease activity|protein serine/threonine kinase activity			kidney(1)|lung(1)|ovary(2)|skin(2)|stomach(2)	8		Colorectal(252;0.178)		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		GAAGAAAACACGCAAATTTAT	0.333													29	38					0	0	1	0	0	T	105765355	C	T	105765355	3	4	81	1	0	0	0	0	1	0	0	0	14802	536	19	1	2424	1	SLK	10	105765355	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	88099	105765355	29769392	8094	11710											
SLK	9748	broad.mit.edu	37	10	105785379	105785379	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:105785379C>A	ENST00000369755.3	+	19	4154	c.3609C>A	c.(3607-3609)ttC>ttA	p.F1203L	SLK_ENST00000335753.4_Missense_Mutation_p.F1172L	NM_014720.2	NP_055535.2	Q9H2G2	SLK_HUMAN	STE20-like kinase	1203					apoptosis|nucleotide-excision repair	cytoplasm|plasma membrane	ATP binding|DNA binding|nuclease activity|protein serine/threonine kinase activity			kidney(1)|lung(1)|ovary(2)|skin(2)|stomach(2)	8		Colorectal(252;0.178)		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		AGGAAGTATTCTTTAAAATGA	0.388													5	60					0.184627	0.18622	1	1	0	A	105785379	C	A	105785379	3	1	81	1	0	0	0	0	1	0	0	0	14802	912	32	4	3683	4	SLK	10	105785379	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	20024	105785379	29749368	8095	11711											
COL17A1	1308	broad.mit.edu	37	10	105807859	105807859	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:105807859G>T	ENST00000353479.5	-	30	2521	c.2231C>A	c.(2230-2232)cCt>cAt	p.P744H	MIR936_ENST00000401264.1_RNA|COL17A1_ENST00000369733.3_Missense_Mutation_p.P744H	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN	collagen, type XVII, alpha 1	744	Triple-helical region.				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		TGGGCCAGCAGGACCTGGTAA	0.582													12	239					2.27111e-07	2.65192e-07	1	1	0	T	105807859	G	T	105807859	3	4	81	1	0	0	0	0	1	0	0	0	3697	1000	35	4	2370	4	COL17A1	10	105807859	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	22480	105807859	29726888	8096	11712											
ITPRIP	85450	broad.mit.edu	37	10	106074250	106074250	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:106074250G>T	ENST00000278071.2	-	3	2012	c.1560C>A	c.(1558-1560)ttC>ttA	p.F520L	ITPRIP_ENST00000358187.2_Missense_Mutation_p.F520L|ITPRIP_ENST00000337478.1_Missense_Mutation_p.F520L	NM_033397.2	NP_203755.1	Q8IWB1	IPRI_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein	520						plasma membrane				breast(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(9)|upper_aerodigestive_tract(1)	20						GCATCTCATAGAAGGAGTCCA	0.562													8	96					5.18039e-06	5.88187e-06	1	1	0	T	106074250	G	T	106074250	3	4	81	1	0	0	0	0	1	0	0	0	7967	933	33	4	87	4	ITPRIP	10	106074250	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	266391	106074250	29460497	8097	11713											
ITPRIP	85450	broad.mit.edu	37	10	106074366	106074366	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:106074366G>A	ENST00000278071.2	-	3	1896	c.1444C>T	c.(1444-1446)Cgc>Tgc	p.R482C	ITPRIP_ENST00000358187.2_Missense_Mutation_p.R482C|ITPRIP_ENST00000337478.1_Missense_Mutation_p.R482C	NM_033397.2	NP_203755.1	Q8IWB1	IPRI_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein	482						plasma membrane				breast(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(9)|upper_aerodigestive_tract(1)	20						GGCACCTTGCGGTTGCCGATG	0.622													19	90					0	0	1	0	0	A	106074366	G	A	106074366	3	1	81	1	0	0	0	0	1	0	0	0	7967	1116	39	1	203	1	ITPRIP	10	106074366	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	116	106074366	29460381	8098	11714											
CCDC147	159686	broad.mit.edu	37	10	106118367	106118367	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:106118367C>T	ENST00000369704.3	+	2	412	c.278C>T	c.(277-279)gCa>gTa	p.A93V	CCDC147_ENST00000312902.5_5'UTR	NM_001008723.1	NP_001008723.1	Q5T655	CC147_HUMAN	coiled-coil domain containing 147	93										NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	52		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)		ACCACCATTGCATCCCTAAAG	0.428													22	36					0	0	1	0	0	T	106118367	C	T	106118367	3	4	81	1	0	0	0	0	1	0	0	0	2799	710	25	2	284	2	CCDC147	10	106118367	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	44001	106118367	29416380	8099	11715											
CCDC147	159686	broad.mit.edu	37	10	106207489	106207489	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:106207489G>A	ENST00000369704.3	+	16	2424	c.2290G>A	c.(2290-2292)Gtc>Atc	p.V764I		NM_001008723.1	NP_001008723.1	Q5T655	CC147_HUMAN	coiled-coil domain containing 147	764										NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	52		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)		ACTAAAGCACGTCTTGGCCCG	0.532													29	25					0	0	1	0	0	A	106207489	G	A	106207489	3	1	81	1	0	0	0	0	1	0	0	0	2799	1145	40	1	2352	1	CCDC147	10	106207489	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	89122	106207489	29327258	8100	11716											
SORCS3	22986	broad.mit.edu	37	10	106849576	106849576	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:106849576G>A	ENST00000369701.3	+	6	1299	c.1072G>A	c.(1072-1074)Gag>Aag	p.E358K		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	358						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		GGTGCACATGGAGGTGCGGAC	0.557													9	21					0	0	1	0	0	A	106849576	G	A	106849576	3	1	81	1	0	0	0	0	1	0	0	0	14986	1175	41	2	1094	2	SORCS3	10	106849576	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	642087	106849576	28685171	8101	11717											
SORCS3	22986	broad.mit.edu	37	10	106937890	106937890	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:106937890C>T	ENST00000369701.3	+	14	2195	c.1968C>T	c.(1966-1968)gaC>gaT	p.D656D	SORCS3_ENST00000369699.4_Intron	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	656						integral to membrane	neuropeptide receptor activity	p.D656D(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		TCTTTGTTGACGGGGCTCTGG	0.473													14	21					0	0	1	0	0	T	106937890	C	T	106937890	2	4	81	1	0	0	0	0	0	0	0	1	14986	535	19	1		1	SORCS3	10	106937890	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	88314	106937890	28596857	8102	11718											
SORCS3	22986	broad.mit.edu	37	10	107016646	107016646	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:107016646T>C	ENST00000369701.3	+	25	3634	c.3407T>C	c.(3406-3408)gTt>gCt	p.V1136A		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	1136						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		GTGGTATTTGTTGGCCTGGCT	0.418													12	21					0	0	1	0	0	C	107016646	T	C	107016646	3	2	81	1	0	0	0	0	1	0	0	0	14986	1725	60	3	3505	3	SORCS3	10	107016646	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	78756	107016646	28518101	8103	11719											
SORCS3	22986	broad.mit.edu	37	10	107023071	107023071	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:107023071G>A	ENST00000369701.3	+	27	3835	c.3608G>A	c.(3607-3609)gGc>gAc	p.G1203D		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	1203						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		TCTGCAGGAGGCATTGCCACT	0.468													9	14					0	0	1	0	0	A	107023071	G	A	107023071	3	1	81	1	0	0	0	0	1	0	0	0	14986	1203	42	2	3714	2	SORCS3	10	107023071	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	6425	107023071	28511676	8104	11720											
SORCS1	114815	broad.mit.edu	37	10	108337255	108337255	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:108337255G>A	ENST00000263054.6	-	26	3437	c.3430C>T	c.(3430-3432)Cga>Tga	p.R1144*	SORCS1_ENST00000344440.6_Intron|SORCS1_ENST00000369698.1_3'UTR	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	1144						integral to membrane	neuropeptide receptor activity|protein binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		CTTTGCAATCGGAGAGATGAG	0.507													27	51					0	0	1	0	0	A	108337255	G	A	108337255	4	1	81	1	0	0	0	0	0	1	0	0	14984	1124	39	1	149	1	SORCS1	10	108337255	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1314184	108337255	27197492	8105	11721											
SORCS1	114815	broad.mit.edu	37	10	108357111	108357111	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:108357111G>A	ENST00000263054.6	-	24	3270	c.3263C>T	c.(3262-3264)gCg>gTg	p.A1088V	SORCS1_ENST00000344440.6_Missense_Mutation_p.A1088V|SORCS1_ENST00000369698.1_Missense_Mutation_p.A623V	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	1088						integral to membrane	neuropeptide receptor activity|protein binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		ACACTGACCCGCTGTTAAGTG	0.517													5	27					0	0	1	0	0	A	108357111	G	A	108357111	3	1	81	1	0	0	0	0	1	0	0	0	14984	1087	38	1	489	1	SORCS1	10	108357111	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	19856	108357111	27177636	8106	11722											
XPNPEP1	7511	broad.mit.edu	37	10	111629770	111629770	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:111629770C>A	ENST00000369680.4	-	19	1833	c.1585G>T	c.(1585-1587)Gat>Tat	p.D529Y	XPNPEP1_ENST00000369683.1_Missense_Mutation_p.D458Y|XPNPEP1_ENST00000322238.8_Missense_Mutation_p.D548Y|XPNPEP1_ENST00000502935.1_Missense_Mutation_p.D572Y	NM_020383.3	NP_065116.3	Q9NQW7	XPP1_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 1, soluble	529					bradykinin catabolic process|proteolysis		manganese ion binding|metalloaminopeptidase activity|protein homodimerization activity	p.D529Y(1)		endometrium(2)|kidney(9)|large_intestine(4)|lung(9)|ovary(3)|pancreas(2)|skin(1)|urinary_tract(1)	31		Breast(234;0.174)		Epithelial(162;1.64e-05)|all cancers(201;0.000564)|BRCA - Breast invasive adenocarcinoma(275;0.0721)		AAAGCCCCATCTTCATAGTAC	0.403													10	23					7.03913e-09	8.42519e-09	1	1	0	A	111629770	C	A	111629770	3	1	81	1	0	0	0	0	1	0	0	0	17502	913	32	4	298	4	XPNPEP1	10	111629770	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3272659	111629770	23904977	8107	11723											
XPNPEP1	7511	broad.mit.edu	37	10	111631574	111631574	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:111631574C>T	ENST00000369680.4	-	17	1617	c.1369G>A	c.(1369-1371)Gcc>Acc	p.A457T	XPNPEP1_ENST00000369683.1_Missense_Mutation_p.A386T|XPNPEP1_ENST00000322238.8_Missense_Mutation_p.A476T|XPNPEP1_ENST00000502935.1_Missense_Mutation_p.A500T	NM_020383.3	NP_065116.3	Q9NQW7	XPP1_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 1, soluble	457					bradykinin catabolic process|proteolysis		manganese ion binding|metalloaminopeptidase activity|protein homodimerization activity			endometrium(2)|kidney(9)|large_intestine(4)|lung(9)|ovary(3)|pancreas(2)|skin(1)|urinary_tract(1)	31		Breast(234;0.174)		Epithelial(162;1.64e-05)|all cancers(201;0.000564)|BRCA - Breast invasive adenocarcinoma(275;0.0721)		GGGAAAACGGCTGCACTCACA	0.463													18	30					0	0	1	0	0	T	111631574	C	T	111631574	3	4	81	1	0	0	0	0	1	0	0	0	17502	797	28	2	522	2	XPNPEP1	10	111631574	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1804	111631574	23903173	8108	11724											
XPNPEP1	7511	broad.mit.edu	37	10	111637817	111637817	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:111637817C>A	ENST00000369680.4	-	13	1302		c.e13-1		XPNPEP1_ENST00000369683.1_Splice_Site|XPNPEP1_ENST00000322238.8_Splice_Site|XPNPEP1_ENST00000502935.1_Splice_Site	NM_020383.3	NP_065116.3	Q9NQW7	XPP1_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 1, soluble						bradykinin catabolic process|proteolysis		manganese ion binding|metalloaminopeptidase activity|protein homodimerization activity			endometrium(2)|kidney(9)|large_intestine(4)|lung(9)|ovary(3)|pancreas(2)|skin(1)|urinary_tract(1)	31		Breast(234;0.174)		Epithelial(162;1.64e-05)|all cancers(201;0.000564)|BRCA - Breast invasive adenocarcinoma(275;0.0721)		CTTTGGGAACCTATGAGAAAA	0.443													20	35					3.10358e-05	3.46628e-05	1	1	0	A	111637817	C	A	111637817	5	1	81	1	0	0	0	0	0	0	1	0	17502	695	24	4	854	4	XPNPEP1	10	111637817	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	6243	111637817	23896930	8109	11725											
XPNPEP1	7511	broad.mit.edu	37	10	111642355	111642355	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:111642355C>T	ENST00000369680.4	-	10	995	c.747G>A	c.(745-747)gaG>gaA	p.E249E	XPNPEP1_ENST00000430337.1_5'UTR|XPNPEP1_ENST00000369683.1_Silent_p.E178E|XPNPEP1_ENST00000322238.8_Silent_p.E292E|XPNPEP1_ENST00000502935.1_Silent_p.E292E	NM_020383.3	NP_065116.3	Q9NQW7	XPP1_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 1, soluble	249					bradykinin catabolic process|proteolysis		manganese ion binding|metalloaminopeptidase activity|protein homodimerization activity			endometrium(2)|kidney(9)|large_intestine(4)|lung(9)|ovary(3)|pancreas(2)|skin(1)|urinary_tract(1)	31		Breast(234;0.174)		Epithelial(162;1.64e-05)|all cancers(201;0.000564)|BRCA - Breast invasive adenocarcinoma(275;0.0721)		GAAGCAGGTGCTCCTTCACAC	0.557													29	48					0	0	1	0	0	T	111642355	C	T	111642355	2	4	81	1	0	0	0	0	0	0	0	1	17502	796	28	2		2	XPNPEP1	10	111642355	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	4538	111642355	23892392	8110	11726											
ADD3	120	broad.mit.edu	37	10	111872641	111872641	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:111872641A>G	ENST00000277900.8	+	3	667	c.302A>G	c.(301-303)aAt>aGt	p.N101S	ADD3_ENST00000497125.1_3'UTR|ADD3_ENST00000360162.3_Missense_Mutation_p.N101S|ADD3_ENST00000356080.4_Missense_Mutation_p.N101S	NM_001121.2	NP_001112.2	Q9UEY8	ADDG_HUMAN	adducin 3 (gamma)	101						cytoskeleton	actin binding|calmodulin binding|metal ion binding|structural constituent of cytoskeleton			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	29		Breast(234;0.052)|Lung NSC(174;0.223)		Epithelial(162;4.15e-05)|all cancers(201;0.000587)|BRCA - Breast invasive adenocarcinoma(275;0.0742)		ATCATGGCCAATTCTTTCTCG	0.393													12	168					0	0	1	0	0	G	111872641	A	G	111872641	3	3	81	1	0	0	0	0	1	0	0	0	305	101	4	3	308	3	ADD3	10	111872641	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	230286	111872641	23662106	8111	11727											
ADD3	120	broad.mit.edu	37	10	111892062	111892062	+	Splice_Site	SNP	G	G	T	rs147358716		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:111892062G>T	ENST00000356080.4	+	14	2099		c.e14-1		ADD3_ENST00000360162.3_Intron|ADD3_ENST00000277900.8_Intron	NM_016824.3	NP_058432.1	Q9UEY8	ADDG_HUMAN	adducin 3 (gamma)							cytoskeleton	actin binding|calmodulin binding|metal ion binding|structural constituent of cytoskeleton			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	29		Breast(234;0.052)|Lung NSC(174;0.223)		Epithelial(162;4.15e-05)|all cancers(201;0.000587)|BRCA - Breast invasive adenocarcinoma(275;0.0742)		TTATCCAACAGATGCTGAGCA	0.383													11	51					0.000673444	0.000721718	1	1	0	T	111892062	G	T	111892062	5	4	81	1	0	0	0	0	0	0	1	0	305	956	33	4	1782	4	ADD3	10	111892062	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	19421	111892062	23642685	8112	11728											
SMC3	9126	broad.mit.edu	37	10	112357911	112357911	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:112357911A>C	ENST00000361804.4	+	20	2257	c.2131A>C	c.(2131-2133)Att>Ctt	p.I711L		NM_005445.3	NP_005436.1	Q9UQE7	SMC3_HUMAN	structural maintenance of chromosomes 3	711					cell division|DNA mediated transformation|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic spindle organization|negative regulation of DNA endoreduplication|signal transduction|sister chromatid cohesion	basement membrane|chromatin|chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nuclear matrix|nucleoplasm|spindle pole	ATP binding|dynein binding|microtubule motor activity|protein heterodimerization activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)		TAATAATGAAATTGATCAGTT	0.323													9	81					0	0	1	0	0	C	112357911	A	C	112357911	3	2	81	1	0	0	0	0	1	0	0	0	14838	101	4	4	2209	4	SMC3	10	112357911	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	465849	112357911	23176836	8113	11729											
SMC3	9126	broad.mit.edu	37	10	112359426	112359426	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:112359426G>T	ENST00000361804.4	+	21	2409	c.2283G>T	c.(2281-2283)caG>caT	p.Q761H		NM_005445.3	NP_005436.1	Q9UQE7	SMC3_HUMAN	structural maintenance of chromosomes 3	761					cell division|DNA mediated transformation|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic spindle organization|negative regulation of DNA endoreduplication|signal transduction|sister chromatid cohesion	basement membrane|chromatin|chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nuclear matrix|nucleoplasm|spindle pole	ATP binding|dynein binding|microtubule motor activity|protein heterodimerization activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)		GTAGCTTACAGAGTTTGGAGG	0.353													21	51					0.00278032	0.0029374	1	1	0	T	112359426	G	T	112359426	3	4	81	1	0	0	0	0	1	0	0	0	14838	933	33	4	2365	4	SMC3	10	112359426	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1515	112359426	23175321	8114	11730											
SMC3	9126	broad.mit.edu	37	10	112362340	112362340	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:112362340G>T	ENST00000361804.4	+	26	3340	c.3214G>T	c.(3214-3216)Gaa>Taa	p.E1072*		NM_005445.3	NP_005436.1	Q9UQE7	SMC3_HUMAN	structural maintenance of chromosomes 3	1072					cell division|DNA mediated transformation|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic spindle organization|negative regulation of DNA endoreduplication|signal transduction|sister chromatid cohesion	basement membrane|chromatin|chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nuclear matrix|nucleoplasm|spindle pole	ATP binding|dynein binding|microtubule motor activity|protein heterodimerization activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)		AGATGAAGGAGAAGGGAGTGG	0.453													5	47					0.000602214	0.000646338	1	1	0	T	112362340	G	T	112362340	4	4	81	1	0	0	0	0	0	1	0	0	14838	943	33	4	3316	4	SMC3	10	112362340	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2914	112362340	23172407	8115	11731											
SMC3	9126	broad.mit.edu	37	10	112364052	112364052	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:112364052C>T	ENST00000361804.4	+	29	3772	c.3646C>T	c.(3646-3648)Cat>Tat	p.H1216Y		NM_005445.3	NP_005436.1	Q9UQE7	SMC3_HUMAN	structural maintenance of chromosomes 3	1216					cell division|DNA mediated transformation|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic spindle organization|negative regulation of DNA endoreduplication|signal transduction|sister chromatid cohesion	basement membrane|chromatin|chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nuclear matrix|nucleoplasm|spindle pole	ATP binding|dynein binding|microtubule motor activity|protein heterodimerization activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)		TGATACCACACATGGTTAATT	0.323													23	61					0	0	1	0	0	T	112364052	C	T	112364052	3	4	81	1	0	0	0	0	1	0	0	0	14838	478	17	2	3760	2	SMC3	10	112364052	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1712	112364052	23170695	8116	11732											
PDCD4	27250	broad.mit.edu	37	10	112641242	112641242	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:112641242T>A	ENST00000393104.2	+	4	622	c.262T>A	c.(262-264)Ttg>Atg	p.L88M	PDCD4_ENST00000280154.7_Missense_Mutation_p.L99M	NM_145341.3	NP_663314.1	Q53EL6	PDCD4_HUMAN	programmed cell death 4 (neoplastic transformation inhibitor)	99					apoptosis|cell aging|negative regulation of cell cycle|negative regulation of JUN kinase activity|negative regulation of transcription, DNA-dependent	cytosol|nucleus	protein binding|RNA binding			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	13		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.000526)|all cancers(201;0.00794)|BRCA - Breast invasive adenocarcinoma(275;0.125)		AAAGGGAAGGTTGCTGGATAG	0.483													24	43					0	0	1	0	0	A	112641242	T	A	112641242	3	1	81	1	0	0	0	0	1	0	0	0	11668	1722	60	5	315	5	PDCD4	10	112641242	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	277190	112641242	22893505	8117	11733											
PDCD4	27250	broad.mit.edu	37	10	112645010	112645010	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:112645010G>T	ENST00000393104.2	+	6	768		c.e6-1		PDCD4_ENST00000481353.1_3'UTR|PDCD4_ENST00000280154.7_Splice_Site	NM_145341.3	NP_663314.1	Q53EL6	PDCD4_HUMAN	programmed cell death 4 (neoplastic transformation inhibitor)						apoptosis|cell aging|negative regulation of cell cycle|negative regulation of JUN kinase activity|negative regulation of transcription, DNA-dependent	cytosol|nucleus	protein binding|RNA binding			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	13		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.000526)|all cancers(201;0.00794)|BRCA - Breast invasive adenocarcinoma(275;0.125)		TCCCCTCAAAGGAGAACTGTG	0.328													45	86					1.23103e-26	1.63236e-26	1	1	0	T	112645010	G	T	112645010	5	4	81	1	0	0	0	0	0	0	1	0	11668	1014	35	4	469	4	PDCD4	10	112645010	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	3768	112645010	22889737	8118	11734											
PDCD4	27250	broad.mit.edu	37	10	112647497	112647497	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:112647497G>T	ENST00000393104.2	+	7	957	c.597G>T	c.(595-597)gaG>gaT	p.E199D	PDCD4_ENST00000481353.1_3'UTR|PDCD4_ENST00000280154.7_Missense_Mutation_p.E210D	NM_145341.3	NP_663314.1	Q53EL6	PDCD4_HUMAN	programmed cell death 4 (neoplastic transformation inhibitor)	210	MI 1.				apoptosis|cell aging|negative regulation of cell cycle|negative regulation of JUN kinase activity|negative regulation of transcription, DNA-dependent	cytosol|nucleus	protein binding|RNA binding			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	13		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.000526)|all cancers(201;0.00794)|BRCA - Breast invasive adenocarcinoma(275;0.125)		TAGCATTGGAGGGGAAGGCTA	0.353													45	84					2.20914e-33	2.95378e-33	1	1	0	T	112647497	G	T	112647497	3	4	81	1	0	0	0	0	1	0	0	0	11668	991	35	4	662	4	PDCD4	10	112647497	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2487	112647497	22887250	8119	11735											
GPAM	57678	broad.mit.edu	37	10	113932026	113932026	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:113932026A>G	ENST00000348367.4	-	9	905	c.708T>C	c.(706-708)taT>taC	p.Y236Y	GPAM_ENST00000423155.1_Silent_p.Y236Y|GPAM_ENST00000369425.1_Silent_p.Y236Y			Q9HCL2	GPAT1_HUMAN	glycerol-3-phosphate acyltransferase, mitochondrial	236					phospholipid biosynthetic process|triglyceride biosynthetic process	integral to membrane|mitochondrial outer membrane	glycerol-3-phosphate O-acyltransferase activity			breast(2)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31				Epithelial(162;0.0306)|all cancers(201;0.123)		TGAGCAGCAGATAGTCAATAT	0.373													23	41					0	0	1	0	0	G	113932026	A	G	113932026	2	3	81	1	0	0	0	0	0	0	0	1	6628	340	12	3		3	GPAM	10	113932026	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	1284529	113932026	21602721	8120	11736											
ZDHHC6	64429	broad.mit.edu	37	10	114192146	114192146	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:114192146G>A	ENST00000369405.3	-	9	1502	c.1079C>T	c.(1078-1080)aCa>aTa	p.T360I	ZDHHC6_ENST00000482410.1_5'UTR|ZDHHC6_ENST00000369404.3_Missense_Mutation_p.T356I	NM_022494.1	NP_071939.1	Q9H6R6	ZDHC6_HUMAN	zinc finger, DHHC-type containing 6	360						integral to membrane	acyltransferase activity|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Colorectal(252;0.198)		Epithelial(162;0.0291)|all cancers(201;0.117)		TAAACCTCTTGTGGCTAAAAT	0.368													7	121					0	0	1	0	0	A	114192146	G	A	114192146	3	1	81	1	0	0	0	0	1	0	0	0	17677	1377	48	2	174	2	ZDHHC6	10	114192146	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	260120	114192146	21342601	8121	11737											
VTI1A	143187	broad.mit.edu	37	10	114298078	114298078	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:114298078C>T	ENST00000393077.2	+	5	532	c.416C>T	c.(415-417)gCa>gTa	p.A139V	VTI1A_ENST00000432306.1_Missense_Mutation_p.A139V	NM_145206.2	NP_660207.2	Q96AJ9	VTI1A_HUMAN	vesicle transport through interaction with t-SNAREs 1A	139					intracellular protein transport|retrograde transport, endosome to Golgi	SNARE complex	protein transporter activity|SNAP receptor activity		VTI1A/TCF7L2(8)	breast(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	6		Colorectal(252;0.0314)|Breast(234;0.183)		Epithelial(162;0.0126)|all cancers(201;0.0487)		TACCAAATAGCAGTGGAAACC	0.438			T	TCF7L2	colorectal								27	61					0	0	1	0	0	T	114298078	C	T	114298078	3	4	81	1	0	0	0	0	1	0	0	0	17295	710	25	2	434	2	VTI1A	10	114298078	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	105932	114298078	21236669	8122	11738											
VTI1A	143187	broad.mit.edu	37	10	114575091	114575091	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:114575091C>T	ENST00000393077.2	+	8	719	c.603C>T	c.(601-603)atC>atT	p.I201I		NM_145206.2	NP_660207.2	Q96AJ9	VTI1A_HUMAN	vesicle transport through interaction with t-SNAREs 1A	0					intracellular protein transport|retrograde transport, endosome to Golgi	SNARE complex	protein transporter activity|SNAP receptor activity		VTI1A/TCF7L2(8)	breast(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	6		Colorectal(252;0.0314)|Breast(234;0.183)		Epithelial(162;0.0126)|all cancers(201;0.0487)		TAGGGATCATCGTGGTCATCA	0.458			T	TCF7L2	colorectal								13	43					0	0	1	0	0	T	114575091	C	T	114575091	2	4	81	1	0	0	0	0	0	0	0	1	17295	874	31	1		1	VTI1A	10	114575091	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	277013	114575091	20959656	8123	11739											
TCF7L2	6934	broad.mit.edu	37	10	114710691	114710691	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:114710691C>A	ENST00000545257.1	+	1	683	c.176C>A	c.(175-177)tCc>tAc	p.S59Y	TCF7L2_ENST00000542695.1_5'UTR|TCF7L2_ENST00000352065.5_Missense_Mutation_p.S59Y|TCF7L2_ENST00000349937.2_Missense_Mutation_p.S59Y|TCF7L2_ENST00000369397.4_Missense_Mutation_p.S59Y|TCF7L2_ENST00000534894.1_Missense_Mutation_p.S59Y|TCF7L2_ENST00000536810.1_Missense_Mutation_p.S59Y|TCF7L2_ENST00000369395.1_Missense_Mutation_p.S59Y|TCF7L2_ENST00000538897.1_Missense_Mutation_p.S59Y|RP11-57H14.2_ENST00000369391.3_RNA|TCF7L2_ENST00000355995.4_Missense_Mutation_p.S59Y|TCF7L2_ENST00000355717.4_Missense_Mutation_p.S59Y|TCF7L2_ENST00000543371.1_Missense_Mutation_p.S59Y			Q9NQB0	TF7L2_HUMAN	transcription factor 7-like 2 (T-cell specific, HMG-box)	59					anti-apoptosis|blood vessel development|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell cycle arrest|cell proliferation|fat cell differentiation|glucose homeostasis|maintenance of DNA repeat elements|myoblast cell fate commitment|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|pancreas development|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of insulin secretion|positive regulation of protein binding|positive regulation of protein export from nucleus|positive regulation of protein kinase B signaling cascade|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone metabolic process|regulation of smooth muscle cell proliferation|response to glucose stimulus	beta-catenin-TCF7L2 complex|PML body|protein-DNA complex	armadillo repeat domain binding|beta-catenin binding|gamma-catenin binding|nuclear hormone receptor binding|protein kinase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding		VTI1A/TCF7L2(8)	central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(24)|liver(2)|lung(8)|ovary(1)|skin(1)	41		Breast(234;0.058)|Colorectal(252;0.0615)		Epithelial(162;0.00554)|all cancers(201;0.02)		CAAAACAGCTCCTCCGATTCC	0.502			T	VTI1A	colorectal								10	16					1.58986e-06	1.82794e-06	1	1	0	A	114710691	C	A	114710691	3	1	81	1	0	0	0	0	1	0	0	0	15758	855	30	5	178	5	TCF7L2	10	114710691	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	135600	114710691	20824056	8124	11740											
HABP2	3026	broad.mit.edu	37	10	115341888	115341888	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:115341888C>T	ENST00000351270.3	+	9	1188	c.1092C>T	c.(1090-1092)acC>acT	p.T364T	HABP2_ENST00000541666.1_Intron|HABP2_ENST00000542051.1_Silent_p.T338T	NM_004132.3	NP_004123.1	Q14520	HABP2_HUMAN	hyaluronan binding protein 2	364	Peptidase S1.				cell adhesion|proteolysis	extracellular space	glycosaminoglycan binding|serine-type endopeptidase activity	p.T364T(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23		Colorectal(252;0.0233)|Breast(234;0.0672)		Epithelial(162;0.00319)|all cancers(201;0.0112)		CCCACTGCACCGAGTAGGTGC	0.637													5	17					0	0	1	0	0	T	115341888	C	T	115341888	2	4	81	1	0	0	0	0	0	0	0	1	6979	639	23	1		1	HABP2	10	115341888	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	631197	115341888	20192859	8125	11741											
NRAP	4892	broad.mit.edu	37	10	115372045	115372045	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:115372045G>A	ENST00000369358.4	-	30	3714	c.3470C>T	c.(3469-3471)gCa>gTa	p.A1157V	NRAP_ENST00000360478.3_Missense_Mutation_p.A1114V|NRAP_ENST00000359988.3_Missense_Mutation_p.A1149V|NRAP_ENST00000369360.3_Missense_Mutation_p.A1122V			Q86VF7	NRAP_HUMAN	nebulin-related anchoring protein	1149						fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		CAGGTCTTCTGCCAAGGAAGT	0.562													33	44					0	0	1	0	0	A	115372045	G	A	115372045	3	1	81	1	0	0	0	0	1	0	0	0	10686	1319	46	2	1798	2	NRAP	10	115372045	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	30157	115372045	20162702	8126	11742											
NRAP	4892	broad.mit.edu	37	10	115401192	115401192	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:115401192G>A	ENST00000369358.4	-	13	1499	c.1255C>T	c.(1255-1257)Cgc>Tgc	p.R419C	NRAP_ENST00000360478.3_Missense_Mutation_p.R384C|NRAP_ENST00000359988.3_Missense_Mutation_p.R419C|NRAP_ENST00000369360.3_Missense_Mutation_p.R384C			Q86VF7	NRAP_HUMAN	nebulin-related anchoring protein	419						fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		CCTTCATAGCGGCCTCTCATG	0.438													16	46					0	0	1	0	0	A	115401192	G	A	115401192	3	1	81	1	0	0	0	0	1	0	0	0	10686	1116	39	1	4057	1	NRAP	10	115401192	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	29147	115401192	20133555	8127	11743											
NRAP	4892	broad.mit.edu	37	10	115406696	115406696	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:115406696C>T	ENST00000369358.4	-	10	1223	c.979G>A	c.(979-981)Gaa>Aaa	p.E327K	NRAP_ENST00000360478.3_Missense_Mutation_p.E327K|NRAP_ENST00000359988.3_Missense_Mutation_p.E327K|NRAP_ENST00000369360.3_Missense_Mutation_p.E327K			Q86VF7	NRAP_HUMAN	nebulin-related anchoring protein	327						fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding	p.E327K(3)|p.E327*(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		CTAGCGAGTTCGTGAGCTTTC	0.527													29	61					0	0	1	0	0	T	115406696	C	T	115406696	3	4	81	1	0	0	0	0	1	0	0	0	10686	893	31	1	4345	1	NRAP	10	115406696	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	5504	115406696	20128051	8128	11744											
DCLRE1A	9937	broad.mit.edu	37	10	115594912	115594912	+	Nonstop_Mutation	SNP	C	C	A	rs113837788		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:115594912C>A	ENST00000361384.2	-	9	4039	c.3122G>T	c.(3121-3123)tGa>tTa	p.*1041L	DCLRE1A_ENST00000369305.1_Nonstop_Mutation_p.*1041L	NM_014881.3	NP_055696.3	Q6PJP8	DCR1A_HUMAN	DNA cross-link repair 1A	0					cell division|mitosis	nucleus	hydrolase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(2)|urinary_tract(1)	31				Epithelial(162;0.0157)|all cancers(201;0.0171)		GAGGTATCATCAATATCCAGC	0.378								Other identified genes with known or suspected DNA repair function					5	116					0.014758	0.0152304	1	1	0	A	115594912	C	A	115594912	4	1	81	1	0	0	0	0	0	0	0	0	4317	837	29	5	4	5	DCLRE1A	10	115594912	Nonstop_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	188216	115594912	19939835	8129	11745											
DCLRE1A	9937	broad.mit.edu	37	10	115601313	115601313	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:115601313G>A	ENST00000361384.2	-	7	3589	c.2672C>T	c.(2671-2673)gCt>gTt	p.A891V	DCLRE1A_ENST00000369305.1_Missense_Mutation_p.A891V	NM_014881.3	NP_055696.3	Q6PJP8	DCR1A_HUMAN	DNA cross-link repair 1A	891					cell division|mitosis	nucleus	hydrolase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(2)|urinary_tract(1)	31				Epithelial(162;0.0157)|all cancers(201;0.0171)		TAAAACATCAGCAATGGCTAT	0.328								Other identified genes with known or suspected DNA repair function					36	54					0	0	1	0	0	A	115601313	G	A	115601313	3	1	81	1	0	0	0	0	1	0	0	0	4317	971	34	2	462	2	DCLRE1A	10	115601313	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	6401	115601313	19933434	8130	11746											
NHLRC2	374354	broad.mit.edu	37	10	115639428	115639428	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:115639428G>T	ENST00000369301.3	+	4	1095	c.883G>T	c.(883-885)Gac>Tac	p.D295Y		NM_198514.3	NP_940916.2	Q8NBF2	NHLC2_HUMAN	NHL repeat containing 2	295					cell redox homeostasis					breast(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	15				Epithelial(162;0.017)|all cancers(201;0.0187)		ATATGTGGCAGACACTGAAAA	0.294													4	41					0.00909568	0.00944708	1	1	0	T	115639428	G	T	115639428	3	4	81	1	0	0	0	0	1	0	0	0	10453	942	33	4	897	4	NHLRC2	10	115639428	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	38115	115639428	19895319	8131	11747											
C10orf118	55088	broad.mit.edu	37	10	115894781	115894781	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:115894781C>A	ENST00000369287.3	-	10	1812	c.1546G>T	c.(1546-1548)Gaa>Taa	p.E516*	C10orf118_ENST00000543782.1_Nonsense_Mutation_p.E114*	NM_018017.2	NP_060487.2	Q7Z3E2	CJ118_HUMAN	chromosome 10 open reading frame 118	516										NS(1)|autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(2)	24		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0161)|all cancers(201;0.0397)		AATTCATCTTCTGTTCTTAAT	0.308													5	32					0.000602214	0.000646338	1	1	0	A	115894781	C	A	115894781	4	1	81	1	0	0	0	0	0	1	0	0	1591	922	32	4	1178	4	C10orf118	10	115894781	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	255353	115894781	19639966	8132	11748											
TDRD1	56165	broad.mit.edu	37	10	115962043	115962043	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:115962043G>A	ENST00000251864.2	+	6	835	c.682G>A	c.(682-684)Gag>Aag	p.E228K	TDRD1_ENST00000369280.1_Missense_Mutation_p.E228K|TDRD1_ENST00000369281.2_Missense_Mutation_p.E228K|TDRD1_ENST00000422662.1_5'UTR|TDRD1_ENST00000369282.1_Missense_Mutation_p.E228K	NM_198795.1	NP_942090.1	Q9BXT4	TDRD1_HUMAN	tudor domain containing 1	228					DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	nucleic acid binding|protein binding|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		AAAGGATGTGGAGGTAAACAA	0.274													15	23					0	0	1	0	0	A	115962043	G	A	115962043	3	1	81	1	0	0	0	0	1	0	0	0	15789	1175	41	2	700	2	TDRD1	10	115962043	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	67262	115962043	19572704	8133	11749											
TDRD1	56165	broad.mit.edu	37	10	115985936	115985936	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:115985936C>A	ENST00000251864.2	+	22	3289	c.3136C>A	c.(3136-3138)Ctg>Atg	p.L1046M	TDRD1_ENST00000369280.1_Missense_Mutation_p.L1046M|TDRD1_ENST00000369281.2_Missense_Mutation_p.L932M|TDRD1_ENST00000422662.1_Missense_Mutation_p.L650M|TDRD1_ENST00000369282.1_Missense_Mutation_p.L1046M	NM_198795.1	NP_942090.1	Q9BXT4	TDRD1_HUMAN	tudor domain containing 1	1046	Tudor 4.				DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	nucleic acid binding|protein binding|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		CTCTAGCCACCTGGCGCTTCC	0.423													4	44					0.00024832	0.000269806	1	1	0	A	115985936	C	A	115985936	3	1	81	1	0	0	0	0	1	0	0	0	15789	680	24	4	3218	4	TDRD1	10	115985936	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	23893	115985936	19548811	8134	11750											
AFAP1L2	84632	broad.mit.edu	37	10	116056780	116056780	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:116056780G>A	ENST00000369271.3	-	18	2675	c.2375C>T	c.(2374-2376)tCg>tTg	p.S792L	AFAP1L2_ENST00000545353.1_Missense_Mutation_p.S849L|AFAP1L2_ENST00000491814.1_5'UTR|AFAP1L2_ENST00000304129.4_Missense_Mutation_p.S796L	NM_001001936.1|NM_032550.2	NP_001001936.1|NP_115939.1	Q8N4X5	AF1L2_HUMAN	actin filament associated protein 1-like 2	796					inflammatory response|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of transcription, DNA-dependent|regulation of interleukin-6 production|regulation of mitotic cell cycle	cytoplasm	protein tyrosine kinase activator activity|SH2 domain binding|SH3 domain binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|prostate(2)	21		Colorectal(252;0.175)|Breast(234;0.231)		Epithelial(162;0.0219)|all cancers(201;0.0561)		GACCACGACCGAGAGAGGCCT	0.567													4	64					0	0	1	0	0	A	116056780	G	A	116056780	3	1	81	1	0	0	0	0	1	0	0	0	354	1059	37	1	77	1	AFAP1L2	10	116056780	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	70844	116056780	19477967	8135	11751											
ABLIM1	3983	broad.mit.edu	37	10	116196050	116196050	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:116196050T>C	ENST00000533213.2	-	23	2427	c.2126A>G	c.(2125-2127)aAc>aGc	p.N709S	ABLIM1_ENST00000277895.5_Missense_Mutation_p.N769S|ABLIM1_ENST00000369252.4_Missense_Mutation_p.N709S|ABLIM1_ENST00000369266.3_Missense_Mutation_p.N446S|ABLIM1_ENST00000392952.3_Missense_Mutation_p.N446S|ABLIM1_ENST00000369253.2_Missense_Mutation_p.N392S			O14639	ABLM1_HUMAN	actin binding LIM protein 1	769					axon guidance|cytoskeleton organization|organ morphogenesis|visual perception	actin cytoskeleton|cytoplasm	actin binding|zinc ion binding			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	30		Colorectal(252;0.0373)|Breast(234;0.231)		Epithelial(162;0.0132)|all cancers(201;0.0383)		CTTCATGTCGTTGCGTCTCCA	0.453													7	88					0	0	1	0	0	C	116196050	T	C	116196050	3	2	81	1	0	0	0	0	1	0	0	0	94	1725	60	3	34	3	ABLIM1	10	116196050	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	139270	116196050	19338697	8136	11752											
FAM160B1	57700	broad.mit.edu	37	10	116590682	116590682	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:116590682G>A	ENST00000369248.4	+	2	452	c.117G>A	c.(115-117)gaG>gaA	p.E39E	FAM160B1_ENST00000369250.3_Silent_p.E39E|FAM160B1_ENST00000369246.1_Silent_p.E39E	NM_020940.3	NP_065991.3	Q5W0V3	F16B1_HUMAN	family with sequence similarity 160, member B1	39				E -> G (in Ref. 1; CAI45992).				p.E39D(2)		NS(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)	25						ACTACATAGAGACTTCAGGTA	0.308													23	57					0	0	1	0	0	A	116590682	G	A	116590682	2	1	81	1	0	0	0	0	0	0	0	1	5500	933	33	2		2	FAM160B1	10	116590682	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	394632	116590682	18944065	8137	11753											
FAM160B1	57700	broad.mit.edu	37	10	116596000	116596000	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:116596000C>A	ENST00000369248.4	+	5	852	c.517C>A	c.(517-519)Cta>Ata	p.L173I	FAM160B1_ENST00000369250.3_Missense_Mutation_p.L173I	NM_020940.3	NP_065991.3	Q5W0V3	F16B1_HUMAN	family with sequence similarity 160, member B1	173										NS(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)	25						TAACTTTTTCCTAGAGGTATG	0.343													21	215					4.26978e-12	5.32034e-12	1	1	0	A	116596000	C	A	116596000	3	1	81	1	0	0	0	0	1	0	0	0	5500	680	24	4	535	4	FAM160B1	10	116596000	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	5318	116596000	18938747	8138	11754											
FAM160B1	57700	broad.mit.edu	37	10	116603563	116603563	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:116603563G>A	ENST00000369248.4	+	7	1215	c.880G>A	c.(880-882)Gcg>Acg	p.A294T	FAM160B1_ENST00000369250.3_Missense_Mutation_p.A294T	NM_020940.3	NP_065991.3	Q5W0V3	F16B1_HUMAN	family with sequence similarity 160, member B1	294										NS(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)	25						GCCAGAGCCTGCGGCTGCAAA	0.473													6	37					0	0	1	0	0	A	116603563	G	A	116603563	3	1	81	1	0	0	0	0	1	0	0	0	5500	1319	46	2	906	2	FAM160B1	10	116603563	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	7563	116603563	18931184	8139	11755											
ATRNL1	26033	broad.mit.edu	37	10	117040979	117040979	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:117040979G>T	ENST00000355044.3	+	14	2341	c.2215G>T	c.(2215-2217)Gaa>Taa	p.E739*		NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	739	PSI 3.					integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		GAGACAGCAAGAATGCCAGGC	0.358													30	44					8.4185e-14	1.06458e-13	1	1	0	T	117040979	G	T	117040979	4	4	81	1	0	0	0	0	0	1	0	0	1205	943	33	4	2269	4	ATRNL1	10	117040979	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	437416	117040979	18493768	8140	11756											
ATRNL1	26033	broad.mit.edu	37	10	117061554	117061554	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:117061554G>A	ENST00000355044.3	+	17	2944		c.e17+1		ATRNL1_ENST00000423111.2_Splice_Site|ATRNL1_ENST00000303745.7_Splice_Site	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1							integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		ACCTGCTCCCGTAAGTATTTA	0.363													31	64					0	0	1	0	0	A	117061554	G	A	117061554	5	1	81	1	0	0	0	0	0	0	1	0	1205	1159	40	1	2885	1	ATRNL1	10	117061554	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	20575	117061554	18473193	8141	11757											
ATRNL1	26033	broad.mit.edu	37	10	117226752	117226752	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:117226752C>T	ENST00000355044.3	+	23	3612	c.3486C>T	c.(3484-3486)gtC>gtT	p.V1162V	ATRNL1_ENST00000423111.2_Silent_p.V213V|ATRNL1_ENST00000303745.7_Intron	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	1162						integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		CGTGGTCTGTCGGTTCAACAG	0.294													17	28					0	0	1	0	0	T	117226752	C	T	117226752	2	4	81	1	0	0	0	0	0	0	0	1	1205	871	31	1		1	ATRNL1	10	117226752	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	165198	117226752	18307995	8142	11758											
GFRA1	2674	broad.mit.edu	37	10	117884797	117884797	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:117884797A>G	ENST00000439649.3	-	5	1057	c.690T>C	c.(688-690)taT>taC	p.Y230Y	GFRA1_ENST00000355422.6_Silent_p.Y235Y|GFRA1_ENST00000369236.1_Silent_p.Y230Y|GFRA1_ENST00000544592.1_Silent_p.Y114Y	NM_001145453.1	NP_001138925.1	P56159	GFRA1_HUMAN	GDNF family receptor alpha 1	235					axon guidance	anchored to membrane|extrinsic to membrane|plasma membrane	glial cell-derived neurotrophic factor receptor activity			endometrium(2)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)	26		Lung NSC(174;0.21)		all cancers(201;0.0337)		CCCTCTCTTCATAGGAGCACA	0.557													10	46					0	0	1	0	0	G	117884797	A	G	117884797	2	3	81	1	0	0	0	0	0	0	0	1	6389	224	8	3		3	GFRA1	10	117884797	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	658045	117884797	17649950	8143	11759											
PNLIPRP3	119548	broad.mit.edu	37	10	118225660	118225660	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:118225660T>C	ENST00000369230.3	+	8	1053	c.907T>C	c.(907-909)Tcc>Ccc	p.S303P		NM_001011709.2	NP_001011709.2	Q17RR3	LIPR3_HUMAN	pancreatic lipase-related protein 3	303					lipid catabolic process	extracellular region	triglyceride lipase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(29)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50				all cancers(201;0.0131)		TCCTTGTAGATCCTACACATC	0.318													22	28					0	0	1	0	0	C	118225660	T	C	118225660	3	2	81	1	0	0	0	0	1	0	0	0	12200	1435	50	3	937	3	PNLIPRP3	10	118225660	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	340863	118225660	17309087	8144	11760											
PNLIP	5406	broad.mit.edu	37	10	118321149	118321149	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:118321149G>A	ENST00000369221.2	+	12	1362		c.e12+1			NM_000936.2	NP_000927.1	P16233	LIPP_HUMAN	pancreatic lipase						lipid catabolic process|retinoid metabolic process|steroid metabolic process	extracellular region	retinyl-palmitate esterase activity|triglyceride lipase activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	43				all cancers(201;0.0131)	Bentiromide(DB00522)|Orlistat(DB01083)	TTGGAAAACAGTAAGTAATGA	0.363													7	59					0	0	1	0	0	A	118321149	G	A	118321149	5	1	81	1	0	0	0	0	0	0	1	0	12197	1043	36	2	1377	2	PNLIP	10	118321149	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	95489	118321149	17213598	8145	11761											
PNLIPRP1	5407	broad.mit.edu	37	10	118359629	118359629	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:118359629C>T	ENST00000528052.1	+	9	956	c.885C>T	c.(883-885)ccC>ccT	p.P295P	PNLIPRP1_ENST00000534537.1_Silent_p.P295P|PNLIPRP1_ENST00000358834.4_Silent_p.P295P			P54315	LIPR1_HUMAN	pancreatic lipase-related protein 1	295					lipid metabolic process		calcium ion binding|triglyceride lipase activity	p.P295P(1)		breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	38				all cancers(201;0.0161)		TCCTCAATCCCGATGGGTTTG	0.488													41	66					0	0	1	0	0	T	118359629	C	T	118359629	2	4	81	1	0	0	0	0	0	0	0	1	12198	639	23	1		1	PNLIPRP1	10	118359629	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	38480	118359629	17175118	8146	11762											
HSPA12A	259217	broad.mit.edu	37	10	118434331	118434331	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:118434331C>T	ENST00000369209.3	-	12	2093	c.1989G>A	c.(1987-1989)tcG>tcA	p.S663S		NM_025015.2	NP_079291.2	O43301	HS12A_HUMAN	heat shock 70kDa protein 12A	663							ATP binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32				all cancers(201;0.0158)		TGACACTCTTCGAAGTGGCTA	0.557													18	44					0	0	1	0	0	T	118434331	C	T	118434331	2	4	81	1	0	0	0	0	0	0	0	1	7447	871	31	1		1	HSPA12A	10	118434331	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	74702	118434331	17100416	8147	11763											
HSPA12A	259217	broad.mit.edu	37	10	118441355	118441355	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:118441355C>T	ENST00000369209.3	-	8	973	c.869G>A	c.(868-870)cGg>cAg	p.R290Q		NM_025015.2	NP_079291.2	O43301	HS12A_HUMAN	heat shock 70kDa protein 12A	290							ATP binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32				all cancers(201;0.0158)		CAAAAAGGTCCGACTCTGCCG	0.473											OREG0020558	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	21	37					0	0	1	0	0	T	118441355	C	T	118441355	3	4	81	1	0	0	0	0	1	0	0	0	7447	652	23	1	1178	1	HSPA12A	10	118441355	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	7024	118441355	17093392	8148	11764											
HSPA12A	259217	broad.mit.edu	37	10	118451868	118451868	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:118451868G>T	ENST00000369209.3	-	6	761	c.657C>A	c.(655-657)gcC>gcA	p.A219A		NM_025015.2	NP_079291.2	O43301	HS12A_HUMAN	heat shock 70kDa protein 12A	219							ATP binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32				all cancers(201;0.0158)		TCACCTGGTAGGCAGCTTGTC	0.597													11	127					1.08611e-07	1.27405e-07	1	1	0	T	118451868	G	T	118451868	2	4	81	1	0	0	0	0	0	0	0	1	7447	987	35	4		4	HSPA12A	10	118451868	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	10513	118451868	17082879	8149	11765											
HSPA12A	259217	broad.mit.edu	37	10	118464710	118464710	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:118464710C>T	ENST00000369209.3	-	3	310	c.206G>A	c.(205-207)gGc>gAc	p.G69D		NM_025015.2	NP_079291.2	O43301	HS12A_HUMAN	heat shock 70kDa protein 12A	69							ATP binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32				all cancers(201;0.0158)		GTAGGCATAGCCACTGGATGT	0.567													27	35					0	0	1	0	0	T	118464710	C	T	118464710	3	4	81	1	0	0	0	0	1	0	0	0	7447	739	26	2	1861	2	HSPA12A	10	118464710	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	12842	118464710	17070037	8150	11766											
KIAA1598	57698	broad.mit.edu	37	10	118700088	118700088	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:118700088G>A	ENST00000355371.4	-	9	1244	c.747C>T	c.(745-747)agC>agT	p.S249S	KIAA1598_ENST00000392903.2_Silent_p.S249S|KIAA1598_ENST00000260777.10_Silent_p.S249S|KIAA1598_ENST00000497044.1_5'UTR|KIAA1598_ENST00000392901.4_Silent_p.S189S	NM_001127211.2|NM_001258298.1|NM_001258299.1	NP_001120683.1|NP_001245227.1|NP_001245228.1	A0MZ66	SHOT1_HUMAN	KIAA1598	249					axon guidance	axon				endometrium(1)|kidney(1)|large_intestine(5)|lung(3)	10				all cancers(201;0.00494)		GCAGAAGGTGGCTTTGTCTCT	0.398													30	47					0	0	1	0	0	A	118700088	G	A	118700088	2	1	81	1	0	0	0	0	0	0	0	1	8288	1194	42	2		2	KIAA1598	10	118700088	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	235378	118700088	16834659	8151	11767											
KCNK18	338567	broad.mit.edu	37	10	118960677	118960677	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:118960677A>G	ENST00000334549.1	+	2	231	c.231A>G	c.(229-231)gaA>gaG	p.E77E		NM_181840.1	NP_862823.1	Q7Z418	KCNKI_HUMAN	potassium channel, subfamily K, member 18	77						integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	41		Colorectal(252;0.19)		all cancers(201;0.0211)		CAGTGGTGGAAGACAGAAAAC	0.517													64	99					0	0	1	0	0	G	118960677	A	G	118960677	2	3	81	1	0	0	0	0	0	0	0	1	8109	69	3	3		3	KCNK18	10	118960677	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	260589	118960677	16574070	8152	11768											
SLC18A2	6571	broad.mit.edu	37	10	119015149	119015149	+	Silent	SNP	G	G	A	rs149854149	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:119015149G>A	ENST00000298472.5	+	9	1019	c.876G>A	c.(874-876)ccG>ccA	p.P292P	SLC18A2_ENST00000497497.1_3'UTR	NM_003054.4	NP_003045.2	Q05940	VMAT2_HUMAN	solute carrier family 18 (vesicular monoamine transporter), member 2	292					neurotransmitter secretion	clathrin sculpted monoamine transport vesicle membrane|integral to plasma membrane|membrane fraction	monoamine transmembrane transporter activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)	29		Colorectal(252;0.19)		all cancers(201;0.029)	Alseroxylon(DB00386)|Reserpine(DB00206)|Tetrabenazine(DB04844)	TGAAGGACCCGTACATCCTCA	0.617													13	21					0	0	1	0	0	A	119015149	G	A	119015149	2	1	81	1	0	0	0	0	0	0	0	1	14481	1132	40	1		1	SLC18A2	10	119015149	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	54472	119015149	16519598	8153	11769											
SLC18A2	6571	broad.mit.edu	37	10	119036673	119036673	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:119036673G>A	ENST00000298472.5	+	16	1584	c.1441G>A	c.(1441-1443)Gct>Act	p.A481T	SLC18A2_ENST00000497497.1_3'UTR	NM_003054.4	NP_003045.2	Q05940	VMAT2_HUMAN	solute carrier family 18 (vesicular monoamine transporter), member 2	481					neurotransmitter secretion	clathrin sculpted monoamine transport vesicle membrane|integral to plasma membrane|membrane fraction	monoamine transmembrane transporter activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)	29		Colorectal(252;0.19)		all cancers(201;0.029)	Alseroxylon(DB00386)|Reserpine(DB00206)|Tetrabenazine(DB04844)	TCTCTTTTAGGCTATTCTCAT	0.313													13	28					0	0	1	0	0	A	119036673	G	A	119036673	5	1	81	1	0	0	0	0	0	0	1	0	14481	1217	42	2	1499	2	SLC18A2	10	119036673	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	21524	119036673	16498074	8154	11770											
PDZD8	118987	broad.mit.edu	37	10	119043158	119043158	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:119043158G>A	ENST00000334464.5	-	5	3325	c.3086C>T	c.(3085-3087)aCa>aTa	p.T1029I		NM_173791.3	NP_776152.1	Q8NEN9	PDZD8_HUMAN	PDZ domain containing 8	1029					intracellular signal transduction		metal ion binding			kidney(3)|large_intestine(8)|lung(24)|upper_aerodigestive_tract(3)	38		Colorectal(252;0.19)		all cancers(201;0.0121)		CCTTTCCTCTGTAGGCAAGCC	0.398													14	169					0	0	1	0	0	A	119043158	G	A	119043158	3	1	81	1	0	0	0	0	1	0	0	0	11752	1377	48	2	382	2	PDZD8	10	119043158	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	6485	119043158	16491589	8155	11771											
PDZD8	118987	broad.mit.edu	37	10	119043323	119043323	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:119043323G>A	ENST00000334464.5	-	5	3160	c.2921C>T	c.(2920-2922)aCg>aTg	p.T974M		NM_173791.3	NP_776152.1	Q8NEN9	PDZD8_HUMAN	PDZ domain containing 8	974					intracellular signal transduction		metal ion binding			kidney(3)|large_intestine(8)|lung(24)|upper_aerodigestive_tract(3)	38		Colorectal(252;0.19)		all cancers(201;0.0121)		GTTGTCTGACGTGTTGGGTGT	0.458													114	209					0	0	1	0	0	A	119043323	G	A	119043323	3	1	81	1	0	0	0	0	1	0	0	0	11752	1145	40	1	547	1	PDZD8	10	119043323	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	165	119043323	16491424	8156	11772											
EMX2	2018	broad.mit.edu	37	10	119303166	119303166	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:119303166C>A	ENST00000553456.3	+	1	1212	c.388C>A	c.(388-390)Ctg>Atg	p.L130M	EMX2OS_ENST00000551288.1_RNA|EMX2_ENST00000442245.4_Missense_Mutation_p.L130M	NM_004098.3	NP_004089.1	Q04743	EMX2_HUMAN	empty spiracles homeobox 2	130						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|prostate(2)	12		Colorectal(252;0.109)|Lung NSC(174;0.179)|all_lung(145;0.22)		all cancers(201;0.0133)		CTACCGATATCTGGGTCATCG	0.682													17	31					0.0496948	0.0506707	1	1	0	A	119303166	C	A	119303166	3	1	81	1	0	0	0	0	1	0	0	0	5136	912	32	4	390	4	EMX2	10	119303166	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	259843	119303166	16231581	8157	11773											
EMX2	2018	broad.mit.edu	37	10	119305195	119305195	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:119305195G>A	ENST00000553456.3	+	2	1283	c.459G>A	c.(457-459)aaG>aaA	p.K153K	EMX2_ENST00000442245.4_Intron|EMX2_ENST00000546446.1_3'UTR	NM_004098.3	NP_004089.1	Q04743	EMX2_HUMAN	empty spiracles homeobox 2	153						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|prostate(2)	12		Colorectal(252;0.109)|Lung NSC(174;0.179)|all_lung(145;0.22)		all cancers(201;0.0133)		TGGCCCGAAAGCCCAAGCGGA	0.607													5	21					0	0	1	0	0	A	119305195	G	A	119305195	2	1	81	1	0	0	0	0	0	0	0	1	5136	962	34	2		2	EMX2	10	119305195	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2029	119305195	16229552	8158	11774											
EMX2	2018	broad.mit.edu	37	10	119307642	119307642	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:119307642G>T	ENST00000553456.3	+	3	1482	c.658G>T	c.(658-660)Gat>Tat	p.D220Y	EMX2_ENST00000442245.4_Missense_Mutation_p.R158I|EMX2_ENST00000546446.1_3'UTR	NM_004098.3	NP_004089.1	Q04743	EMX2_HUMAN	empty spiracles homeobox 2	220						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|prostate(2)	12		Colorectal(252;0.109)|Lung NSC(174;0.179)|all_lung(145;0.22)		all cancers(201;0.0133)		AGAAGGCTCAGATTCGCAACA	0.488													9	12					2.80697e-09	3.37799e-09	1	1	0	T	119307642	G	T	119307642	3	4	81	1	0	0	0	0	1	0	0	0	5136	942	33	4	668	4	EMX2	10	119307642	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2447	119307642	16227105	8159	11775											
RAB11FIP2	22841	broad.mit.edu	37	10	119799881	119799881	+	Silent	SNP	C	C	T	rs146793744	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:119799881C>T	ENST00000355624.3	-	2	988	c.549G>A	c.(547-549)acG>acA	p.T183T	RP11-354M20.3_ENST00000417968.4_RNA|RAB11FIP2_ENST00000369199.3_Silent_p.T183T|RP11-354M20.3_ENST00000451610.2_RNA	NM_014904.2	NP_055719.1	Q7L804	RFIP2_HUMAN	RAB11 family interacting protein 2 (class I)	183					protein transport	plasma membrane|recycling endosome membrane	protein homodimerization activity			cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(8)	19		Colorectal(252;0.235)		all cancers(201;0.0238)		TTGCAGAAGACGTATCAGAAA	0.353													47	65					0	0	1	0	0	T	119799881	C	T	119799881	2	4	81	1	0	0	0	0	0	0	0	1	12946	523	19	1		1	RAB11FIP2	10	119799881	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	492239	119799881	15734866	8160	11776											
EIF3A	8661	broad.mit.edu	37	10	120801913	120801913	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:120801913C>T	ENST00000369144.3	-	19	3246	c.3119G>A	c.(3118-3120)cGt>cAt	p.R1040H	EIF3A_ENST00000541549.1_Missense_Mutation_p.R1006H	NM_003750.2	NP_003741.1	Q14152	EIF3A_HUMAN	eukaryotic translation initiation factor 3, subunit A	1040	25 X 10 AA approximate tandem repeats of [DE]-[DE]-[DE]-R-[SEVGFPILV]-[HPSN]- [RSW]-[RL]-[DRGTIHN]-[EPMANLGDT].|Asp-rich.				formation of translation initiation complex	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|structural molecule activity|translation initiation factor activity			endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3)	56		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0236)		ATCCATCCCACGTCTTGGTCC	0.597													62	118					0	0	1	0	0	T	120801913	C	T	120801913	3	4	81	1	0	0	0	0	1	0	0	0	5038	536	19	1	1045	1	EIF3A	10	120801913	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1002032	120801913	14732834	8161	11777											
EIF3A	8661	broad.mit.edu	37	10	120802156	120802156	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:120802156C>T	ENST00000369144.3	-	19	3003	c.2876G>A	c.(2875-2877)cGg>cAg	p.R959Q	EIF3A_ENST00000541549.1_Missense_Mutation_p.R925Q	NM_003750.2	NP_003741.1	Q14152	EIF3A_HUMAN	eukaryotic translation initiation factor 3, subunit A	959	25 X 10 AA approximate tandem repeats of [DE]-[DE]-[DE]-R-[SEVGFPILV]-[HPSN]- [RSW]-[RL]-[DRGTIHN]-[EPMANLGDT].|Asp-rich.				formation of translation initiation complex	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|structural molecule activity|translation initiation factor activity			endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3)	56		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0236)		CATGCCACGCCGGGGAACCCG	0.582													58	76					0	0	1	0	0	T	120802156	C	T	120802156	3	4	81	1	0	0	0	0	1	0	0	0	5038	652	23	1	1288	1	EIF3A	10	120802156	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	243	120802156	14732591	8162	11778											
EIF3A	8661	broad.mit.edu	37	10	120818756	120818756	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:120818756C>T	ENST00000369144.3	-	11	1724	c.1597G>A	c.(1597-1599)Gca>Aca	p.A533T	EIF3A_ENST00000541549.1_Missense_Mutation_p.A499T	NM_003750.2	NP_003741.1	Q14152	EIF3A_HUMAN	eukaryotic translation initiation factor 3, subunit A	533					formation of translation initiation complex	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|structural molecule activity|translation initiation factor activity			endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3)	56		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0236)		ACTTCAAGTGCTTTTGCAAGT	0.453													29	81					0	0	1	0	0	T	120818756	C	T	120818756	3	4	81	1	0	0	0	0	1	0	0	0	5038	797	28	2	2599	2	EIF3A	10	120818756	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	16600	120818756	14715991	8163	11779											
EIF3A	8661	broad.mit.edu	37	10	120819204	120819204	+	Silent	SNP	C	C	T	rs61729177		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:120819204C>T	ENST00000369144.3	-	10	1480	c.1353G>A	c.(1351-1353)gaG>gaA	p.E451E	EIF3A_ENST00000541549.1_Silent_p.E417E	NM_003750.2	NP_003741.1	Q14152	EIF3A_HUMAN	eukaryotic translation initiation factor 3, subunit A	451	PCI.				formation of translation initiation complex	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|structural molecule activity|translation initiation factor activity			endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3)	56		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0236)		AACGAGAAAACTCAATGCTCT	0.418													23	37					0	0	1	0	0	T	120819204	C	T	120819204	2	4	81	1	0	0	0	0	0	0	0	1	5038	564	20	2		2	EIF3A	10	120819204	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	448	120819204	14715543	8164	11780											
EIF3A	8661	broad.mit.edu	37	10	120830555	120830555	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:120830555C>T	ENST00000369144.3	-	5	711	c.584G>A	c.(583-585)cGt>cAt	p.R195H	EIF3A_ENST00000541549.1_Missense_Mutation_p.R161H	NM_003750.2	NP_003741.1	Q14152	EIF3A_HUMAN	eukaryotic translation initiation factor 3, subunit A	195					formation of translation initiation complex	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|structural molecule activity|translation initiation factor activity			endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3)	56		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0236)		ACACAGTTTACGGAATTCAGC	0.378													33	45					0	0	1	0	0	T	120830555	C	T	120830555	3	4	81	1	0	0	0	0	1	0	0	0	5038	536	19	1	3636	1	EIF3A	10	120830555	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	11351	120830555	14704192	8165	11781											
EIF3A	8661	broad.mit.edu	37	10	120832515	120832515	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:120832515C>T	ENST00000369144.3	-	4	555	c.428G>A	c.(427-429)aGa>aAa	p.R143K	EIF3A_ENST00000541549.1_Missense_Mutation_p.R109K	NM_003750.2	NP_003741.1	Q14152	EIF3A_HUMAN	eukaryotic translation initiation factor 3, subunit A	143					formation of translation initiation complex	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|structural molecule activity|translation initiation factor activity			endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3)	56		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0236)		TAAAAGTAATCTGTCAGTACG	0.393													26	32					0	0	1	0	0	T	120832515	C	T	120832515	3	4	81	1	0	0	0	0	1	0	0	0	5038	913	32	2	3796	2	EIF3A	10	120832515	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1960	120832515	14702232	8166	11782											
GRK5	2869	broad.mit.edu	37	10	121182770	121182770	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:121182770C>A	ENST00000392870.2	+	5	761	c.432C>A	c.(430-432)gcC>gcA	p.A144A	GRK5_ENST00000369108.3_Silent_p.A39A	NM_005308.2	NP_005299.1	P34947	GRK5_HUMAN	G protein-coupled receptor kinase 5	144	N-terminal.|RGS.				G-protein signaling, coupled to cAMP nucleotide second messenger|regulation of G-protein coupled receptor protein signaling pathway|tachykinin receptor signaling pathway	cytoplasm|plasma membrane|soluble fraction	ATP binding|G-protein coupled receptor kinase activity|phospholipid binding|protein kinase C binding|signal transducer activity			endometrium(2)|large_intestine(5)|lung(15)|skin(3)|stomach(1)|urinary_tract(1)	27		Lung NSC(174;0.0971)|all_lung(145;0.127)|Ovarian(717;0.249)		all cancers(201;0.0227)		TCTTTTCTGCCTGTGCACAGT	0.582													50	58					9.87224e-16	1.26233e-15	1	1	0	A	121182770	C	A	121182770	2	1	81	1	0	0	0	0	0	0	0	1	6833	668	24	4		4	GRK5	10	121182770	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	350255	121182770	14351977	8167	11783											
GRK5	2869	broad.mit.edu	37	10	121184565	121184565	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:121184565T>C	ENST00000392870.2	+	6	830	c.501T>C	c.(499-501)ttT>ttC	p.F167F	GRK5_ENST00000369108.3_Silent_p.F62F	NM_005308.2	NP_005299.1	P34947	GRK5_HUMAN	G protein-coupled receptor kinase 5	167	N-terminal.|RGS.				G-protein signaling, coupled to cAMP nucleotide second messenger|regulation of G-protein coupled receptor protein signaling pathway|tachykinin receptor signaling pathway	cytoplasm|plasma membrane|soluble fraction	ATP binding|G-protein coupled receptor kinase activity|phospholipid binding|protein kinase C binding|signal transducer activity			endometrium(2)|large_intestine(5)|lung(15)|skin(3)|stomach(1)|urinary_tract(1)	27		Lung NSC(174;0.0971)|all_lung(145;0.127)|Ovarian(717;0.249)		all cancers(201;0.0227)		GCATGTTTTTTGACCGCTTTC	0.463													6	58					0	0	1	0	0	C	121184565	T	C	121184565	2	2	81	1	0	0	0	0	0	0	0	1	6833	1809	63	3		3	GRK5	10	121184565	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	1795	121184565	14350182	8168	11784											
GRK5	2869	broad.mit.edu	37	10	121189892	121189892	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:121189892C>T	ENST00000392870.2	+	7	868	c.539C>T	c.(538-540)cCg>cTg	p.P180L	GRK5_ENST00000369108.3_Missense_Mutation_p.P75L	NM_005308.2	NP_005299.1	P34947	GRK5_HUMAN	G protein-coupled receptor kinase 5	180	N-terminal.				G-protein signaling, coupled to cAMP nucleotide second messenger|regulation of G-protein coupled receptor protein signaling pathway|tachykinin receptor signaling pathway	cytoplasm|plasma membrane|soluble fraction	ATP binding|G-protein coupled receptor kinase activity|phospholipid binding|protein kinase C binding|signal transducer activity			endometrium(2)|large_intestine(5)|lung(15)|skin(3)|stomach(1)|urinary_tract(1)	27		Lung NSC(174;0.0971)|all_lung(145;0.127)|Ovarian(717;0.249)		all cancers(201;0.0227)		TCCAGGCAACCGGTGACCAAA	0.483													5	73					0	0	1	0	0	T	121189892	C	T	121189892	3	4	81	1	0	0	0	0	1	0	0	0	6833	652	23	1	565	1	GRK5	10	121189892	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	5327	121189892	14344855	8169	11785											
GRK5	2869	broad.mit.edu	37	10	121212232	121212232	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:121212232C>T	ENST00000392870.2	+	14	1783	c.1454C>T	c.(1453-1455)aCt>aTt	p.T485I	GRK5_ENST00000473264.1_3'UTR|GRK5_ENST00000369108.3_Missense_Mutation_p.T380I	NM_005308.2	NP_005299.1	P34947	GRK5_HUMAN	G protein-coupled receptor kinase 5	485	AGC-kinase C-terminal.				G-protein signaling, coupled to cAMP nucleotide second messenger|regulation of G-protein coupled receptor protein signaling pathway|tachykinin receptor signaling pathway	cytoplasm|plasma membrane|soluble fraction	ATP binding|G-protein coupled receptor kinase activity|phospholipid binding|protein kinase C binding|signal transducer activity			endometrium(2)|large_intestine(5)|lung(15)|skin(3)|stomach(1)|urinary_tract(1)	27		Lung NSC(174;0.0971)|all_lung(145;0.127)|Ovarian(717;0.249)		all cancers(201;0.0227)		CAGTTCTCCACTGTGAAGGGC	0.602													11	30					0	0	1	0	0	T	121212232	C	T	121212232	3	4	81	1	0	0	0	0	1	0	0	0	6833	565	20	2	1508	2	GRK5	10	121212232	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	22340	121212232	14322515	8170	11786											
GRK5	2869	broad.mit.edu	37	10	121214505	121214505	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:121214505C>A	ENST00000392870.2	+	16	2028	c.1699C>A	c.(1699-1701)Ccc>Acc	p.P567T	GRK5_ENST00000369108.3_Missense_Mutation_p.P462T	NM_005308.2	NP_005299.1	P34947	GRK5_HUMAN	G protein-coupled receptor kinase 5	567					G-protein signaling, coupled to cAMP nucleotide second messenger|regulation of G-protein coupled receptor protein signaling pathway|tachykinin receptor signaling pathway	cytoplasm|plasma membrane|soluble fraction	ATP binding|G-protein coupled receptor kinase activity|phospholipid binding|protein kinase C binding|signal transducer activity			endometrium(2)|large_intestine(5)|lung(15)|skin(3)|stomach(1)|urinary_tract(1)	27		Lung NSC(174;0.0971)|all_lung(145;0.127)|Ovarian(717;0.249)		all cancers(201;0.0227)		CAAGAGTTCGCCCAGCTCCAA	0.567													4	43					1.23904e-05	1.39156e-05	1	1	0	A	121214505	C	A	121214505	3	1	81	1	0	0	0	0	1	0	0	0	6833	739	26	5	1761	5	GRK5	10	121214505	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2273	121214505	14320242	8171	11787											
GRK5	2869	broad.mit.edu	37	10	121214568	121214568	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:121214568G>A	ENST00000392870.2	+	16	2091	c.1762G>A	c.(1762-1764)Gga>Aga	p.G588R	GRK5_ENST00000369108.3_Missense_Mutation_p.G483R	NM_005308.2	NP_005299.1	P34947	GRK5_HUMAN	G protein-coupled receptor kinase 5	588					G-protein signaling, coupled to cAMP nucleotide second messenger|regulation of G-protein coupled receptor protein signaling pathway|tachykinin receptor signaling pathway	cytoplasm|plasma membrane|soluble fraction	ATP binding|G-protein coupled receptor kinase activity|phospholipid binding|protein kinase C binding|signal transducer activity			endometrium(2)|large_intestine(5)|lung(15)|skin(3)|stomach(1)|urinary_tract(1)	27		Lung NSC(174;0.0971)|all_lung(145;0.127)|Ovarian(717;0.249)		all cancers(201;0.0227)		GAACTCCACCGGAAGCAGCTA	0.547													16	34					0	0	1	0	0	A	121214568	G	A	121214568	3	1	81	1	0	0	0	0	1	0	0	0	6833	1117	39	1	1824	1	GRK5	10	121214568	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	63	121214568	14320179	8172	11788											
RGS10	6001	broad.mit.edu	37	10	121259697	121259697	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:121259697G>A	ENST00000392865.1	-	5	494	c.432C>T	c.(430-432)acC>acT	p.T144T	RGS10_ENST00000369103.2_Silent_p.T158T|RGS10_ENST00000469575.1_5'UTR|RGS10_ENST00000369101.3_Silent_p.T150T	NM_002925.3	NP_002916.1	O43665	RGS10_HUMAN	regulator of G-protein signaling 10	150	RGS.				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|protein binding|signal transducer activity			breast(2)|large_intestine(1)|lung(3)	6		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.00105)|GBM - Glioblastoma multiforme(135;0.195)		CCTCTTCCTCGGTTCGCTTGT	0.423													40	53					0	0	1	0	0	A	121259697	G	A	121259697	2	1	81	1	0	0	0	0	0	0	0	1	13343	1103	39	1		1	RGS10	10	121259697	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	45129	121259697	14275050	8173	11789											
TIAL1	7073	broad.mit.edu	37	10	121337189	121337189	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:121337189T>C	ENST00000369092.4	-	9	1555	c.247A>G	c.(247-249)Act>Gct	p.T83A	TIAL1_ENST00000436547.2_Missense_Mutation_p.T206A|TIAL1_ENST00000369093.2_Missense_Mutation_p.T223A			Q01085	TIAR_HUMAN	TIA1 cytotoxic granule-associated RNA binding protein-like 1	206	RRM 1.				apoptosis|defense response|induction of apoptosis|regulation of transcription from RNA polymerase II promoter	lysosome|nucleus|stress granule	nucleotide binding|RNA binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(3)|ovary(1)	13		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.00239)|BRCA - Breast invasive adenocarcinoma(275;0.0932)		CAGTACACAGTACAATTTTTT	0.368													50	71					0	0	1	0	0	C	121337189	T	C	121337189	3	2	81	1	0	0	0	0	1	0	0	0	15949	1638	57	3	531	3	TIAL1	10	121337189	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	77492	121337189	14197558	8174	11790											
INPP5F	22876	broad.mit.edu	37	10	121582687	121582687	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:121582687C>T	ENST00000361976.2	+	18	2303	c.2137C>T	c.(2137-2139)Cgt>Tgt	p.R713C	INPP5F_ENST00000369080.3_Missense_Mutation_p.R103C|INPP5F_ENST00000490818.1_3'UTR	NM_014937.3	NP_055752.1	Q9Y2H2	SAC2_HUMAN	inositol polyphosphate-5-phosphatase F	713							phosphoric ester hydrolase activity			breast(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(9)|lung(5)|ovary(5)|pancreas(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158)		AGCTGTAATGCGTAATCCTGA	0.408													24	39					0	0	1	0	0	T	121582687	C	T	121582687	3	4	81	1	0	0	0	0	1	0	0	0	7802	768	27	1	2207	1	INPP5F	10	121582687	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	245498	121582687	13952060	8175	11791											
INPP5F	22876	broad.mit.edu	37	10	121587087	121587087	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:121587087G>A	ENST00000361976.2	+	20	3360	c.3194G>A	c.(3193-3195)aGc>aAc	p.S1065N	INPP5F_ENST00000369080.3_Missense_Mutation_p.S455N	NM_014937.3	NP_055752.1	Q9Y2H2	SAC2_HUMAN	inositol polyphosphate-5-phosphatase F	1065							phosphoric ester hydrolase activity			breast(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(9)|lung(5)|ovary(5)|pancreas(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158)		AGCAGTAGCAGCAGAGCAGTC	0.483													41	74					0	0	1	0	0	A	121587087	G	A	121587087	3	1	81	1	0	0	0	0	1	0	0	0	7802	971	34	2	3272	2	INPP5F	10	121587087	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	4400	121587087	13947660	8176	11792											
WDR11	55717	broad.mit.edu	37	10	122619736	122619736	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:122619736C>A	ENST00000263461.6	+	4	714	c.468C>A	c.(466-468)agC>agA	p.S156R		NM_018117.11	NP_060587.8	Q9BZH6	WDR11_HUMAN	WD repeat domain 11	156						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5)	38						GGAAGAAGAGCTATGCAGATA	0.413													21	43					2.4624e-09	2.97042e-09	1	1	0	A	122619736	C	A	122619736	3	1	81	1	0	0	0	0	1	0	0	0	17333	796	28	4	482	4	WDR11	10	122619736	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1032649	122619736	12915011	8177	11793											
WDR11	55717	broad.mit.edu	37	10	122664854	122664854	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:122664854A>G	ENST00000263461.6	+	26	3463	c.3217A>G	c.(3217-3219)Ata>Gta	p.I1073V	WDR11_ENST00000604509.1_3'UTR	NM_018117.11	NP_060587.8	Q9BZH6	WDR11_HUMAN	WD repeat domain 11	1073						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5)	38						GCTCTGCCTGATAGATAAGGC	0.498													4	43					0	0	1	0	0	G	122664854	A	G	122664854	3	3	81	1	0	0	0	0	1	0	0	0	17333	333	12	3	3319	3	WDR11	10	122664854	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	45118	122664854	12869893	8178	11794											
FGFR2	2263	broad.mit.edu	37	10	123310926	123310926	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:123310926C>T	ENST00000358487.5	-	5	774	c.502G>A	c.(502-504)Gct>Act	p.A168T	FGFR2_ENST00000359354.2_Missense_Mutation_p.A168T|FGFR2_ENST00000356226.4_Missense_Mutation_p.A53T|FGFR2_ENST00000360144.3_Missense_Mutation_p.A79T|FGFR2_ENST00000369060.4_Missense_Mutation_p.A168T|FGFR2_ENST00000346997.2_Missense_Mutation_p.A168T|FGFR2_ENST00000369061.4_Missense_Mutation_p.A168T|FGFR2_ENST00000351936.6_Missense_Mutation_p.A168T|FGFR2_ENST00000457416.2_Missense_Mutation_p.A168T|FGFR2_ENST00000369056.1_Missense_Mutation_p.A168T|FGFR2_ENST00000357555.5_Missense_Mutation_p.A79T|FGFR2_ENST00000369059.1_Missense_Mutation_p.A53T|FGFR2_ENST00000490349.1_5'UTR	NM_000141.4	NP_000132.3	P21802	FGFR2_HUMAN	fibroblast growth factor receptor 2	168	Heparin-binding.|Ig-like C2-type 2.				angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division	cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding			breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2)	181		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	Palifermin(DB00039)	GCAGGCACAGCATGGAGCCGC	0.517		5	Mis		"gastric. NSCLC, endometrial"		"Crouzon, Pfeiffer, and Apert syndromes"		Saethre-Chotzen syndrome;Apert syndrome				6	45					0	0	1	0	0	T	123310926	C	T	123310926	3	4	81	1	0	0	0	0	1	0	0	0	5899	710	25	2	2275	2	FGFR2	10	123310926	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	646072	123310926	12223821	8179	11795											
ATE1	11101	broad.mit.edu	37	10	123503324	123503324	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:123503324C>T	ENST00000369043.3	-	12	1514	c.1428G>A	c.(1426-1428)aaG>aaA	p.K476K	ATE1_ENST00000224652.6_Silent_p.K476K|ATE1_ENST00000540606.1_Silent_p.K469K|ATE1_ENST00000535655.1_Silent_p.K177K|ATE1_ENST00000369040.3_Silent_p.K380K|ATE1_ENST00000543447.1_Silent_p.K361K	NM_007041.2	NP_008972.2	O95260	ATE1_HUMAN	arginyltransferase 1	476					protein arginylation	cytoplasm|nucleus	acyltransferase activity|arginyltransferase activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		all_neural(114;0.061)|Lung NSC(174;0.095)|all_lung(145;0.124)|Breast(234;0.212)				TGATGGCTCTCTTGTGAAACA	0.463													34	42					0	0	1	0	0	T	123503324	C	T	123503324	2	4	81	1	0	0	0	0	0	0	0	1	1077	912	32	2		2	ATE1	10	123503324	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	192398	123503324	12031423	8180	11796											
ATE1	11101	broad.mit.edu	37	10	123596249	123596249	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:123596249G>T	ENST00000369043.3	-	10	1327	c.1241C>A	c.(1240-1242)cCc>cAc	p.P414H	ATE1_ENST00000224652.6_Missense_Mutation_p.P414H|ATE1_ENST00000540606.1_Missense_Mutation_p.P407H|ATE1_ENST00000535655.1_Missense_Mutation_p.P115H|ATE1_ENST00000369040.3_Missense_Mutation_p.P318H|ATE1_ENST00000543447.1_Missense_Mutation_p.P299H	NM_007041.2	NP_008972.2	O95260	ATE1_HUMAN	arginyltransferase 1	414					protein arginylation	cytoplasm|nucleus	acyltransferase activity|arginyltransferase activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		all_neural(114;0.061)|Lung NSC(174;0.095)|all_lung(145;0.124)|Breast(234;0.212)				TTTCATCTTGGGACATGAATG	0.308													5	58					0.000602214	0.000646338	1	1	0	T	123596249	G	T	123596249	3	4	81	1	0	0	0	0	1	0	0	0	1077	1232	43	5	327	5	ATE1	10	123596249	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	92925	123596249	11938498	8181	11797											
ATE1	11101	broad.mit.edu	37	10	123658440	123658440	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:123658440C>T	ENST00000369043.3	-	7	944	c.858G>A	c.(856-858)tcG>tcA	p.S286S	ATE1_ENST00000224652.6_Intron|ATE1_ENST00000540606.1_Silent_p.S279S|ATE1_ENST00000535655.1_Intron|ATE1_ENST00000369040.3_Silent_p.S190S|ATE1_ENST00000543447.1_Intron|ATE1_ENST00000481784.1_Intron	NM_007041.2	NP_008972.2	O95260	ATE1_HUMAN	arginyltransferase 1	286					protein arginylation	cytoplasm|nucleus	acyltransferase activity|arginyltransferase activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		all_neural(114;0.061)|Lung NSC(174;0.095)|all_lung(145;0.124)|Breast(234;0.212)				GGCTGAAAGACGACTTGAACT	0.433													33	32					0	0	1	0	0	T	123658440	C	T	123658440	2	4	81	1	0	0	0	0	0	0	0	1	1077	523	19	1		1	ATE1	10	123658440	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	62191	123658440	11876307	8182	11798											
ATE1	11101	broad.mit.edu	37	10	123658451	123658451	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:123658451C>A	ENST00000369043.3	-	7	933	c.847G>T	c.(847-849)Gag>Tag	p.E283*	ATE1_ENST00000224652.6_Intron|ATE1_ENST00000540606.1_Nonsense_Mutation_p.E276*|ATE1_ENST00000535655.1_Intron|ATE1_ENST00000369040.3_Nonsense_Mutation_p.E187*|ATE1_ENST00000543447.1_Intron|ATE1_ENST00000481784.1_Intron	NM_007041.2	NP_008972.2	O95260	ATE1_HUMAN	arginyltransferase 1	283					protein arginylation	cytoplasm|nucleus	acyltransferase activity|arginyltransferase activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		all_neural(114;0.061)|Lung NSC(174;0.095)|all_lung(145;0.124)|Breast(234;0.212)				GACTTGAACTCTGGGTCCTCA	0.438													9	50					7.48243e-07	8.64403e-07	1	1	0	A	123658451	C	A	123658451	4	1	81	1	0	0	0	0	0	1	0	0	1077	922	32	4	733	4	ATE1	10	123658451	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	11	123658451	11876296	8183	11799											
TACC2	10579	broad.mit.edu	37	10	123781513	123781513	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:123781513G>T	ENST00000369005.1	+	2	357	c.17G>T	c.(16-18)aGc>aTc	p.S6I	TACC2_ENST00000453444.2_Missense_Mutation_p.S6I|TACC2_ENST00000513429.1_Missense_Mutation_p.S6I|TACC2_ENST00000358010.1_Missense_Mutation_p.S6I|TACC2_ENST00000515603.1_Missense_Mutation_p.S6I|TACC2_ENST00000334433.3_Missense_Mutation_p.S6I|TACC2_ENST00000515273.1_Missense_Mutation_p.S6I	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	6						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				AATGAGAACAGCACCTCGGAC	0.483													13	25					4.93089e-13	6.20298e-13	1	1	0	T	123781513	G	T	123781513	3	4	81	1	0	0	0	0	1	0	0	0	15559	971	34	4	19	4	TACC2	10	123781513	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	123062	123781513	11753234	8184	11800											
TACC2	10579	broad.mit.edu	37	10	123843937	123843937	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:123843937C>A	ENST00000369005.1	+	4	2262	c.1922C>A	c.(1921-1923)gCt>gAt	p.A641D	TACC2_ENST00000453444.2_Missense_Mutation_p.A641D|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000515603.1_Missense_Mutation_p.A641D|TACC2_ENST00000334433.3_Missense_Mutation_p.A641D|TACC2_ENST00000515273.1_Missense_Mutation_p.A641D	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	641						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				AAGGGGGGTGCTGGGCACACG	0.607													6	17					0.00116845	0.00124301	1	1	0	A	123843937	C	A	123843937	3	1	81	1	0	0	0	0	1	0	0	0	15559	797	28	4	1932	4	TACC2	10	123843937	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	62424	123843937	11690810	8185	11801											
TACC2	10579	broad.mit.edu	37	10	123846233	123846233	+	Silent	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:123846233A>C	ENST00000369005.1	+	4	4558	c.4218A>C	c.(4216-4218)ccA>ccC	p.P1406P	TACC2_ENST00000453444.2_Silent_p.P1406P|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000515603.1_Silent_p.P1406P|TACC2_ENST00000334433.3_Silent_p.P1406P|TACC2_ENST00000515273.1_Silent_p.P1406P	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	1406						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				CTGGCTTCCCAGACTTCAGGG	0.597													6	49					0	0	1	0	0	C	123846233	A	C	123846233	2	2	81	1	0	0	0	0	0	0	0	1	15559	175	7	5		5	TACC2	10	123846233	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	2296	123846233	11688514	8186	11802											
TACC2	10579	broad.mit.edu	37	10	123846534	123846534	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:123846534C>T	ENST00000369005.1	+	4	4859	c.4519C>T	c.(4519-4521)Cgg>Tgg	p.R1507W	TACC2_ENST00000453444.2_Missense_Mutation_p.R1507W|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000515603.1_Missense_Mutation_p.R1507W|TACC2_ENST00000334433.3_Missense_Mutation_p.R1507W|TACC2_ENST00000515273.1_Missense_Mutation_p.R1507W	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	1507						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				GACCTGGGAGCGGAACTTGCC	0.622													9	37					0	0	1	0	0	T	123846534	C	T	123846534	3	4	81	1	0	0	0	0	1	0	0	0	15559	759	27	1	4529	1	TACC2	10	123846534	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	301	123846534	11688213	8187	11803											
TACC2	10579	broad.mit.edu	37	10	123846833	123846833	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:123846833C>T	ENST00000369005.1	+	4	5158	c.4818C>T	c.(4816-4818)tgC>tgT	p.C1606C	TACC2_ENST00000453444.2_Silent_p.C1606C|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000515603.1_Silent_p.C1606C|TACC2_ENST00000334433.3_Silent_p.C1606C|TACC2_ENST00000515273.1_Silent_p.C1606C	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	1606						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				CATCTGCCTGCGACAGTCCAC	0.592													18	33					0	0	1	0	0	T	123846833	C	T	123846833	2	4	81	1	0	0	0	0	0	0	0	1	15559	776	27	1		1	TACC2	10	123846833	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	299	123846833	11687914	8188	11804											
TACC2	10579	broad.mit.edu	37	10	123970727	123970727	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:123970727G>A	ENST00000369005.1	+	9	7127	c.6787G>A	c.(6787-6789)Gta>Ata	p.V2263I	TACC2_ENST00000453444.2_Missense_Mutation_p.V2267I|TACC2_ENST00000369000.1_5'UTR|TACC2_ENST00000513429.1_Missense_Mutation_p.V409I|TACC2_ENST00000260733.3_Missense_Mutation_p.V341I|TACC2_ENST00000360561.3_Missense_Mutation_p.V341I|TACC2_ENST00000358010.1_Missense_Mutation_p.V409I|TACC2_ENST00000515603.1_Missense_Mutation_p.V2218I|TACC2_ENST00000368999.1_Missense_Mutation_p.V341I|TACC2_ENST00000369004.3_Missense_Mutation_p.V341I|TACC2_ENST00000369001.1_5'UTR|TACC2_ENST00000334433.3_Missense_Mutation_p.V2263I|TACC2_ENST00000515273.1_Missense_Mutation_p.V2267I	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	2263						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				AGGGCTCTCCGTAAGGCTGGA	0.567													15	18					0	0	1	0	0	A	123970727	G	A	123970727	3	1	81	1	0	0	0	0	1	0	0	0	15559	1145	40	1	6889	1	TACC2	10	123970727	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	123894	123970727	11564020	8189	11805											
BTBD16	118663	broad.mit.edu	37	10	124090749	124090749	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:124090749G>T	ENST00000368994.2	+	12	1316	c.1065G>T	c.(1063-1065)caG>caT	p.Q355H	BTBD16_ENST00000260723.4_Missense_Mutation_p.Q354H			Q32M84	BTBDG_HUMAN	BTB (POZ) domain containing 16	354										breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(3)|skin(2)|stomach(1)|urinary_tract(1)	15		all_neural(114;0.107)|Lung NSC(174;0.175)|all_lung(145;0.222)|Breast(234;0.238)				GGCTCGACCAGGTTACAGTCA	0.463													5	61					0.014758	0.0152304	1	1	0	T	124090749	G	T	124090749	3	4	81	1	0	0	0	0	1	0	0	0	1543	991	35	4	1104	4	BTBD16	10	124090749	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	120022	124090749	11443998	8190	11806											
BTBD16	118663	broad.mit.edu	37	10	124092006	124092006	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:124092006G>T	ENST00000368994.2	+	13	1396	c.1145G>T	c.(1144-1146)aGa>aTa	p.R382I	BTBD16_ENST00000260723.4_Missense_Mutation_p.R381I|BTBD16_ENST00000495370.2_3'UTR			Q32M84	BTBDG_HUMAN	BTB (POZ) domain containing 16	381										breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(3)|skin(2)|stomach(1)|urinary_tract(1)	15		all_neural(114;0.107)|Lung NSC(174;0.175)|all_lung(145;0.222)|Breast(234;0.238)				CAGGCTGTGAGATTTGGGCTG	0.517													4	46					0.00116845	0.00124301	1	1	0	T	124092006	G	T	124092006	3	4	81	1	0	0	0	0	1	0	0	0	1543	942	33	4	1188	4	BTBD16	10	124092006	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1257	124092006	11442741	8191	11807											
PLEKHA1	59338	broad.mit.edu	37	10	124189225	124189225	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:124189225G>A	ENST00000368988.1	+	13	1150	c.1027G>A	c.(1027-1029)Gca>Aca	p.A343T	PLEKHA1_ENST00000538022.1_3'UTR|PLEKHA1_ENST00000368989.2_Missense_Mutation_p.A343T|PLEKHA1_ENST00000368990.3_Missense_Mutation_p.R329H|PLEKHA1_ENST00000433307.1_Missense_Mutation_p.R329H			Q9HB21	PKHA1_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 1	0					B cell receptor signaling pathway|cellular response to hydrogen peroxide|establishment of protein localization|negative regulation of protein kinase B signaling cascade|phosphatidylinositol 3-kinase cascade|ruffle organization	cytoplasm|nucleus|ruffle membrane	PDZ domain binding|phosphatidylinositol-3,4-bisphosphate binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	13		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				ACAGCCTCTCGCAGCAACTCT	0.537													19	20					0	0	1	0	0	A	124189225	G	A	124189225	3	1	81	1	0	0	0	0	1	0	0	0	12103	1087	38	1	1028	1	PLEKHA1	10	124189225	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	97219	124189225	11345522	8192	11808											
DMBT1	1755	broad.mit.edu	37	10	124336138	124336138	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:124336138G>A	ENST00000368909.3	+	7	613	c.507G>A	c.(505-507)gtG>gtA	p.V169V	DMBT1_ENST00000368955.3_Silent_p.V169V|DMBT1_ENST00000330163.4_Silent_p.V169V|DMBT1_ENST00000344338.3_Silent_p.V169V|DMBT1_ENST00000368956.2_Silent_p.V169V|DMBT1_ENST00000359586.6_Silent_p.V169V|DMBT1_ENST00000338354.3_Silent_p.V169V	NM_007329.2	NP_015568.2	Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	169	SRCR 1.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				TGGATGATGTGCGCTGCTCAG	0.587													46	79					0	0	1	0	0	A	124336138	G	A	124336138	2	1	81	1	0	0	0	0	0	0	0	1	4605	1306	46	2		2	DMBT1	10	124336138	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	146913	124336138	11198609	8193	11809											
DMBT1	1755	broad.mit.edu	37	10	124337336	124337336	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:124337336C>A	ENST00000368909.3	+	8	723	c.617C>A	c.(616-618)cCt>cAt	p.P206H	DMBT1_ENST00000368955.3_Missense_Mutation_p.P206H|DMBT1_ENST00000330163.4_Missense_Mutation_p.P206H|DMBT1_ENST00000344338.3_Missense_Mutation_p.P206H|DMBT1_ENST00000368956.2_Missense_Mutation_p.P206H|DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000338354.3_Missense_Mutation_p.P206H	NM_007329.2	NP_015568.2	Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	206					epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				GCTGCCCAGCCTCAGTCAACA	0.512													8	53					0.00448238	0.00470627	1	1	0	A	124337336	C	A	124337336	3	1	81	1	0	0	0	0	1	0	0	0	4605	681	24	4	647	4	DMBT1	10	124337336	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1198	124337336	11197411	8194	11810											
C10orf120	399814	broad.mit.edu	37	10	124457660	124457660	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:124457660G>A	ENST00000329446.4	-	3	628	c.597C>T	c.(595-597)ggC>ggT	p.G199G		NM_001010912.1	NP_001010912.1	Q5SQS8	CJ120_HUMAN	chromosome 10 open reading frame 120	199										endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|skin(2)|stomach(1)|urinary_tract(1)	21		all_neural(114;0.169)|Glioma(114;0.222)				TTGGACCCAGGCCCACCCCAG	0.483													18	24					0	0	1	0	0	A	124457660	G	A	124457660	2	1	81	1	0	0	0	0	0	0	0	1	1594	1190	42	2		2	C10orf120	10	124457660	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	120324	124457660	11077087	8195	11811											
FAM24B	196792	broad.mit.edu	37	10	124608857	124608857	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:124608857G>T	ENST00000368898.3	-	4	481	c.191C>A	c.(190-192)tCt>tAt	p.S64Y	FAM24B_ENST00000462859.1_5'UTR|CUZD1_ENST00000368904.1_5'UTR|CUZD1_ENST00000545804.1_Intron|FAM24B_ENST00000368896.1_Missense_Mutation_p.S64Y	NM_152644.2	NP_689857.2	Q8N5W8	FA24B_HUMAN	family with sequence similarity 24, member B	64						extracellular region				endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4		all_neural(114;0.0765)|Lung NSC(174;0.163)|all_lung(145;0.205)		Colorectal(40;0.136)|COAD - Colon adenocarcinoma(40;0.141)		GGCAGGACAAGACTCCGTGGC	0.512													29	28					1.04121e-07	1.22631e-07	1	1	0	T	124608857	G	T	124608857	3	4	81	1	0	0	0	0	1	0	0	0	5581	942	33	4	97	4	FAM24B	10	124608857	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	151197	124608857	10925890	8196	11812											
FAM24B	196792	broad.mit.edu	37	10	124609946	124609946	+	Missense_Mutation	SNP	G	G	A	rs139313059		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:124609946G>A	ENST00000368898.3	-	3	376	c.86C>T	c.(85-87)gCg>gTg	p.A29V	FAM24B_ENST00000462859.1_Intron|CUZD1_ENST00000368904.1_5'UTR|CUZD1_ENST00000545804.1_Intron|FAM24B_ENST00000368896.1_Missense_Mutation_p.A29V	NM_152644.2	NP_689857.2	Q8N5W8	FA24B_HUMAN	family with sequence similarity 24, member B	29						extracellular region				endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4		all_neural(114;0.0765)|Lung NSC(174;0.163)|all_lung(145;0.205)		Colorectal(40;0.136)|COAD - Colon adenocarcinoma(40;0.141)		TCACTTTAGCGCGTTGTGTAT	0.473													22	31					0	0	1	0	0	A	124609946	G	A	124609946	3	1	81	1	0	0	0	0	1	0	0	0	5581	1087	38	1	206	1	FAM24B	10	124609946	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1089	124609946	10924801	8197	11813											
C10orf88	80007	broad.mit.edu	37	10	124697271	124697271	+	Silent	SNP	G	G	A	rs145403983	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:124697271G>A	ENST00000481909.1	-	5	1277	c.1053C>T	c.(1051-1053)acC>acT	p.T351T	C10orf88_ENST00000368891.5_5'UTR	NM_024942.3	NP_079218.2	Q9H8K7	CJ088_HUMAN	chromosome 10 open reading frame 88	351										breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)	18		all_neural(114;0.0765)|Lung NSC(174;0.163)|all_lung(145;0.205)		Colorectal(40;0.0686)|COAD - Colon adenocarcinoma(40;0.0735)		CCTGACACTCGGTCTTATTTC	0.393													56	93					0	0	1	0	0	A	124697271	G	A	124697271	2	1	81	1	0	0	0	0	0	0	0	1	1626	1103	39	1		1	C10orf88	10	124697271	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	87325	124697271	10837476	8198	11814											
IKZF5	64376	broad.mit.edu	37	10	124755566	124755566	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:124755566C>T	ENST00000368886.5	-	4	580	c.260G>A	c.(259-261)tGc>tAc	p.C87Y	PSTK_ENST00000497219.1_Intron	NM_001271840.1	NP_001258769.1	Q9H5V7	IKZF5_HUMAN	IKAROS family zinc finger 5 (Pegasus)	87					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|lung(3)|prostate(1)	6		all_neural(114;0.169)|Colorectal(57;0.178)|Glioma(114;0.222)		Colorectal(40;0.0701)|COAD - Colon adenocarcinoma(40;0.0754)		GGCATAGTTGCAGTACCGACA	0.453													5	95					0	0	1	0	0	T	124755566	C	T	124755566	3	4	81	1	0	0	0	0	1	0	0	0	7662	710	25	2	1007	2	IKZF5	10	124755566	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	58295	124755566	10779181	8199	11815											
HMX2	3167	broad.mit.edu	37	10	124909419	124909419	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:124909419G>A	ENST00000339992.3	+	2	859	c.602G>A	c.(601-603)cGc>cAc	p.R201H		NM_005519.1	NP_005510.1	A2RU54	HMX2_HUMAN	H6 family homeobox 2	201					cell differentiation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(1)|lung(4)|prostate(1)	7		all_neural(114;0.169)|Colorectal(57;0.207)|Glioma(114;0.222)		Colorectal(40;0.123)|COAD - Colon adenocarcinoma(40;0.141)		CAGAACCGCCGCAACAAGTGG	0.652													5	10					0	0	1	0	0	A	124909419	G	A	124909419	3	1	81	1	0	0	0	0	1	0	0	0	7288	1087	38	1	608	1	HMX2	10	124909419	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	153853	124909419	10625328	8200	11816											
BUB3	9184	broad.mit.edu	37	10	124921758	124921758	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:124921758G>A	ENST00000368865.4	+	6	792	c.583G>A	c.(583-585)Gta>Ata	p.V195I	BUB3_ENST00000368858.5_Missense_Mutation_p.V195I|BUB3_ENST00000538238.1_Missense_Mutation_p.V115I|BUB3_ENST00000368859.2_Intron	NM_004725.3	NP_004716.1	O43684	BUB3_HUMAN	BUB3 mitotic checkpoint protein	195					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|attachment of spindle microtubules to kinetochore|cell division|meiosis|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle	condensed chromosome kinetochore|cytosol|nucleus	protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	9		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)				GCAGGGTTATGTATTAAGCTC	0.413													8	310					0	0	1	0	0	A	124921758	G	A	124921758	3	1	81	1	0	0	0	0	1	0	0	0	1575	1377	48	2	601	2	BUB3	10	124921758	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	12339	124921758	10612989	8201	11817											
BUB3	9184	broad.mit.edu	37	10	124922226	124922226	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:124922226A>G	ENST00000368865.4	+	7	1062	c.853A>G	c.(853-855)Agt>Ggt	p.S285G	BUB3_ENST00000368858.5_Missense_Mutation_p.S285G|BUB3_ENST00000538238.1_Missense_Mutation_p.S205G|BUB3_ENST00000481952.1_3'UTR|BUB3_ENST00000368859.2_Intron	NM_004725.3	NP_004716.1	O43684	BUB3_HUMAN	BUB3 mitotic checkpoint protein	285					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|attachment of spindle microtubules to kinetochore|cell division|meiosis|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle	condensed chromosome kinetochore|cytosol|nucleus	protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	9		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)				ACTTGCCTTCAGTAATGATGG	0.433													13	78					0	0	1	0	0	G	124922226	A	G	124922226	3	3	81	1	0	0	0	0	1	0	0	0	1575	188	7	3	875	3	BUB3	10	124922226	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	468	124922226	10612521	8202	11818											
CPXM2	119587	broad.mit.edu	37	10	125521526	125521526	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:125521526C>T	ENST00000241305.3	-	11	1793	c.1639G>A	c.(1639-1641)Gtg>Atg	p.V547M	CPXM2_ENST00000368854.3_5'UTR	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	547					cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		CAGCGGAACACGTGGTCGTCG	0.677													22	31					0	0	1	0	0	T	125521526	C	T	125521526	3	4	81	1	0	0	0	0	1	0	0	0	3861	536	19	1	647	1	CPXM2	10	125521526	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	599300	125521526	10013221	8203	11819											
CPXM2	119587	broad.mit.edu	37	10	125528127	125528127	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:125528127G>A	ENST00000241305.3	-	9	1368	c.1214C>T	c.(1213-1215)gCg>gTg	p.A405V	CPXM2_ENST00000368854.3_5'UTR	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	405					cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		GACGATGCGCGCATTCCGGGC	0.647													15	99					0	0	1	0	0	A	125528127	G	A	125528127	3	1	81	1	0	0	0	0	1	0	0	0	3861	1087	38	1	1080	1	CPXM2	10	125528127	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	6601	125528127	10006620	8204	11820											
OAT	4942	broad.mit.edu	37	10	126094005	126094005	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:126094005C>A	ENST00000368845.5	-	5	740	c.648G>T	c.(646-648)gaG>gaT	p.E216D	OAT_ENST00000539214.1_Splice_Site_p.E78D|OAT_ENST00000467675.1_5'UTR	NM_000274.3	NP_000265.1	P04181	OAT_HUMAN	ornithine aminotransferase	216					cellular amino acid biosynthetic process|visual perception	mitochondrial matrix	ornithine-oxo-acid transaminase activity|protein binding|pyridoxal phosphate binding			endometrium(2)|large_intestine(1)|lung(2)	5		all_lung(145;0.0271)|Lung NSC(174;0.0436)|Colorectal(57;0.102)|all_neural(114;0.116)			L-Ornithine(DB00129)|Pyridoxal Phosphate(DB00114)	AGTGAAATACCTCCAGTGCGG	0.393													8	52					1.12685e-05	1.27052e-05	1	1	0	A	126094005	C	A	126094005	5	1	81	1	0	0	0	0	0	0	1	0	10851	695	24	4	695	4	OAT	10	126094005	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	565878	126094005	9440742	8205	11821											
FAM53B	9679	broad.mit.edu	37	10	126311927	126311927	+	Missense_Mutation	SNP	C	C	T	rs140442850	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:126311927C>T	ENST00000337318.3	-	5	1364	c.1153G>A	c.(1153-1155)Gag>Aag	p.E385K	FAM53B_ENST00000392754.3_Missense_Mutation_p.E385K|RP11-12J10.3_ENST00000494792.1_Intron	NM_014661.3	NP_055476.3	Q14153	FA53B_HUMAN	family with sequence similarity 53, member B	385										cervix(1)|lung(5)|ovary(2)|pancreas(1)	9		all_lung(145;0.0191)|Lung NSC(174;0.0301)|Colorectal(57;0.106)|all_neural(114;0.117)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.15)		CCACAATCCTCGTCCAGGGCG	0.682													8	14					0	0	1	0	0	T	126311927	C	T	126311927	3	4	81	1	0	0	0	0	1	0	0	0	5616	893	31	1	119	1	FAM53B	10	126311927	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	217922	126311927	9222820	8206	11822											
FAM53B	9679	broad.mit.edu	37	10	126312126	126312126	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:126312126C>A	ENST00000337318.3	-	5	1165	c.954G>T	c.(952-954)gaG>gaT	p.E318D	FAM53B_ENST00000392754.3_Missense_Mutation_p.E318D|RP11-12J10.3_ENST00000494792.1_Intron	NM_014661.3	NP_055476.3	Q14153	FA53B_HUMAN	family with sequence similarity 53, member B	318										cervix(1)|lung(5)|ovary(2)|pancreas(1)	9		all_lung(145;0.0191)|Lung NSC(174;0.0301)|Colorectal(57;0.106)|all_neural(114;0.117)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.15)		GACCGCAGTCCTCTGTCCCTG	0.682													3	12					0.115264	0.117126	1	1	0	A	126312126	C	A	126312126	3	1	81	1	0	0	0	0	1	0	0	0	5616	680	24	4	318	4	FAM53B	10	126312126	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	199	126312126	9222621	8207	11823											
FAM53B	9679	broad.mit.edu	37	10	126370557	126370557	+	Silent	SNP	G	G	A	rs139649397		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:126370557G>A	ENST00000337318.3	-	4	736	c.525C>T	c.(523-525)aaC>aaT	p.N175N	FAM53B_ENST00000392754.3_Silent_p.N175N|RP11-12J10.3_ENST00000494792.1_3'UTR|FAM53B_ENST00000280780.6_Silent_p.N175N	NM_014661.3	NP_055476.3	Q14153	FA53B_HUMAN	family with sequence similarity 53, member B	175										cervix(1)|lung(5)|ovary(2)|pancreas(1)	9		all_lung(145;0.0191)|Lung NSC(174;0.0301)|Colorectal(57;0.106)|all_neural(114;0.117)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.15)		AGGAGAGCACGTTGGCCCGGG	0.647													7	41					0	0	1	0	0	A	126370557	G	A	126370557	2	1	81	1	0	0	0	0	0	0	0	1	5616	1136	40	1		1	FAM53B	10	126370557	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	58431	126370557	9164190	8208	11824											
FAM175B	23172	broad.mit.edu	37	10	126518046	126518046	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:126518046G>T	ENST00000298492.5	+	7	708	c.663G>T	c.(661-663)caG>caT	p.Q221H		NM_032182.3	NP_115558.3	Q15018	F175B_HUMAN	family with sequence similarity 175, member B	221						BRISC complex	polyubiquitin binding			NS(1)	1						AGAAAGTTCAGGTAACTGATT	0.328													6	53					5.9392e-07	6.87481e-07	1	1	0	T	126518046	G	T	126518046	5	4	81	1	0	0	0	0	0	0	1	0	5528	1014	35	4	689	4	FAM175B	10	126518046	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	147489	126518046	9016701	8209	11825											
ZRANB1	54764	broad.mit.edu	37	10	126631286	126631286	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:126631286G>T	ENST00000359653.4	+	1	595	c.224G>T	c.(223-225)aGg>aTg	p.R75M	RP11-298J20.4_ENST00000508096.1_RNA	NM_017580.2	NP_060050.2	Q9UGI0	ZRAN1_HUMAN	zinc finger, RAN-binding domain containing 1	75					positive regulation of Wnt receptor signaling pathway|protein K63-linked deubiquitination|Wnt receptor signaling pathway	aggresome|centrosome|intermediate filament cytoskeleton|nucleolus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity|zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	23		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.172)		Colorectal(40;0.113)|COAD - Colon adenocarcinoma(40;0.119)		GCAAGACCAAGGGTGAAATCT	0.428													36	55					3.03874e-20	3.96671e-20	1	1	0	T	126631286	G	T	126631286	3	4	81	1	0	0	0	0	1	0	0	0	18264	1000	35	4	226	4	ZRANB1	10	126631286	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	113240	126631286	8903461	8210	11826											
ZRANB1	54764	broad.mit.edu	37	10	126662837	126662837	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:126662837T>C	ENST00000359653.4	+	5	1668	c.1297T>C	c.(1297-1299)Tat>Cat	p.Y433H		NM_017580.2	NP_060050.2	Q9UGI0	ZRAN1_HUMAN	zinc finger, RAN-binding domain containing 1	433	OTU.|TRAF-binding.				positive regulation of Wnt receptor signaling pathway|protein K63-linked deubiquitination|Wnt receptor signaling pathway	aggresome|centrosome|intermediate filament cytoskeleton|nucleolus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity|zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	23		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.172)		Colorectal(40;0.113)|COAD - Colon adenocarcinoma(40;0.119)		CAGTCGACTGTATGCACTTTG	0.438													38	68					0	0	1	0	0	C	126662837	T	C	126662837	3	2	81	1	0	0	0	0	1	0	0	0	18264	1638	57	3	1315	3	ZRANB1	10	126662837	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	31551	126662837	8871910	8211	11827											
UROS	7390	broad.mit.edu	37	10	127477544	127477544	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:127477544C>T	ENST00000368797.4	-	10	915	c.691G>A	c.(691-693)Gcg>Acg	p.A231T	UROS_ENST00000368786.1_Missense_Mutation_p.A231T	NM_000375.2	NP_000366.1	P10746	HEM4_HUMAN	uroporphyrinogen III synthase	231					heme biosynthetic process|uroporphyrinogen III biosynthetic process	cytosol|mitochondrion	uroporphyrinogen-III synthase activity			endometrium(2)|large_intestine(2)|lung(2)|skin(1)	7		all_lung(145;0.00756)|Lung NSC(174;0.0116)|Colorectal(57;0.0855)|all_neural(114;0.0937)|Breast(234;0.203)				GCGGCCAGCGCGCGAGCCGTA	0.637													7	9					0	0	1	0	0	T	127477544	C	T	127477544	3	4	81	1	0	0	0	0	1	0	0	0	17090	768	27	1	110	1	UROS	10	127477544	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	814707	127477544	8057203	8212	11828											
DHX32	55760	broad.mit.edu	37	10	127548312	127548312	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:127548312C>A	ENST00000284690.3	-	3	1199	c.709G>T	c.(709-711)Gtg>Ttg	p.V237L	DHX32_ENST00000284688.6_Missense_Mutation_p.V237L	NM_018180.2	NP_060650.2	Q7L7V1	DHX32_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 32	237	Helicase ATP-binding.					mitochondrion|nucleus	ATP binding|helicase activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|stomach(1)	29		all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936)				TTATTTTTCACTTCTATGACA	0.398													8	124					2.52707e-12	3.15709e-12	1	1	0	A	127548312	C	A	127548312	3	1	81	1	0	0	0	0	1	0	0	0	4533	565	20	4	1558	4	DHX32	10	127548312	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	70768	127548312	7986435	8213	11829											
ADAM12	8038	broad.mit.edu	37	10	127797171	127797171	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:127797171G>A	ENST00000368679.4	-	8	1050	c.741C>T	c.(739-741)caC>caT	p.H247H	ADAM12_ENST00000368676.4_Silent_p.H247H	NM_003474.4	NP_003465.3	O43184	ADA12_HUMAN	ADAM metallopeptidase domain 12	247	Peptidase M12B.				cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|protein binding|SH3 domain binding|zinc ion binding			biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)		CCTTGTCAACGTGATTAGCAA	0.363													24	47					0	0	1	0	0	A	127797171	G	A	127797171	2	1	81	1	0	0	0	0	0	0	0	1	235	1136	40	1		1	ADAM12	10	127797171	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	248859	127797171	7737576	8214	11830											
C10orf90	118611	broad.mit.edu	37	10	128118356	128118356	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:128118356C>A	ENST00000284694.7	-	7	2081	c.1961G>T	c.(1960-1962)aGa>aTa	p.R654I	C10orf90_ENST00000544758.1_Splice_Site_p.R751I|C10orf90_ENST00000480379.1_Splice_Site_p.R58I|C10orf90_ENST00000454341.1_Splice_Site_p.R557I|C10orf90_ENST00000356858.3_Splice_Site_p.R607I	NM_001004298.2	NP_001004298.2	Q96M02	CJ090_HUMAN	chromosome 10 open reading frame 90	654				R -> G (in Ref. 3; BAB71512).						NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(19)|liver(1)|lung(29)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	65		all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203)		COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479)		AACCAAGTACCTCTTAGATCG	0.448													23	35					9.86323e-18	1.27458e-17	1	1	0	A	128118356	C	A	128118356	5	1	81	1	0	0	0	0	0	0	1	0	1627	695	24	4	150	4	C10orf90	10	128118356	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	321185	128118356	7416391	8215	11831											
C10orf90	118611	broad.mit.edu	37	10	128147787	128147787	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:128147787C>T	ENST00000284694.7	-	6	1840		c.e6-1		C10orf90_ENST00000544758.1_Splice_Site|C10orf90_ENST00000480379.1_Splice_Site|C10orf90_ENST00000454341.1_Splice_Site|C10orf90_ENST00000356858.3_Splice_Site	NM_001004298.2	NP_001004298.2	Q96M02	CJ090_HUMAN	chromosome 10 open reading frame 90											NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(19)|liver(1)|lung(29)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	65		all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203)		COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479)		CCAGTGCTTCCTATGCAAAGC	0.483													9	63					0	0	1	0	0	T	128147787	C	T	128147787	5	4	81	1	0	0	0	0	0	0	1	0	1627	695	24	2	396	2	C10orf90	10	128147787	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	29431	128147787	7386960	8216	11832											
DOCK1	1793	broad.mit.edu	37	10	128850978	128850978	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:128850978C>T	ENST00000280333.6	+	22	2281	c.2172C>T	c.(2170-2172)gaC>gaT	p.D724D		NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	724					apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		ACTACGTGGACGGTGCTGAGA	0.433													29	36					0	0	1	0	0	T	128850978	C	T	128850978	2	4	81	1	0	0	0	0	0	0	0	1	4711	535	19	1		1	DOCK1	10	128850978	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	703191	128850978	6683769	8217	11833											
DOCK1	1793	broad.mit.edu	37	10	129245737	129245737	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:129245737T>C	ENST00000280333.6	+	51	5539	c.5430T>C	c.(5428-5430)gaT>gaC	p.D1810D		NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	1810	Interaction with NCK2 second and third SH3 domain (minor).				apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		GCGTGGCAGATTACGGGAATT	0.582													7	13					0	0	1	0	0	C	129245737	T	C	129245737	2	2	81	1	0	0	0	0	0	0	0	1	4711	1490	52	3		3	DOCK1	10	129245737	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	394759	129245737	6289010	8218	11834											
PTPRE	5791	broad.mit.edu	37	10	129877895	129877895	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:129877895T>C	ENST00000254667.3	+	20	2243	c.1964T>C	c.(1963-1965)cTt>cCt	p.L655P	PTPRE_ENST00000419012.2_Missense_Mutation_p.L655P|PTPRE_ENST00000306042.5_Missense_Mutation_p.L597P	NM_006504.4	NP_006495.1	P23469	PTPRE_HUMAN	protein tyrosine phosphatase, receptor type, E	655	Tyrosine-protein phosphatase 2.				negative regulation of insulin receptor signaling pathway|protein phosphorylation	cytoplasm|integral to membrane|intermediate filament cytoskeleton|nucleus|plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	22		all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203)				GCCGAGGGACTTTTAGATGTA	0.458													4	82					0	0	1	0	0	C	129877895	T	C	129877895	3	2	81	1	0	0	0	0	1	0	0	0	12852	1609	56	3	2073	3	PTPRE	10	129877895	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	632158	129877895	5656852	8219	11835											
MKI67	4288	broad.mit.edu	37	10	129900968	129900968	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:129900968C>A	ENST00000368654.3	-	13	9511	c.9136G>T	c.(9136-9138)Gtc>Ttc	p.V3046F	MKI67_ENST00000368653.3_Missense_Mutation_p.V2686F	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	3046					cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TTCATGATGACCACGGGTTCG	0.502													9	121					2.17888e-05	2.43576e-05	1	1	0	A	129900968	C	A	129900968	3	1	81	1	0	0	0	0	1	0	0	0	9646	507	18	5	646	5	MKI67	10	129900968	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	23073	129900968	5633779	8220	11836											
MKI67	4288	broad.mit.edu	37	10	129901141	129901141	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:129901141T>C	ENST00000368654.3	-	13	9338	c.8963A>G	c.(8962-8964)aAc>aGc	p.N2988S	MKI67_ENST00000368653.3_Missense_Mutation_p.N2628S	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	2988					cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				CAGGGAAGTGTTGCTTTTGCT	0.532													14	98					0	0	1	0	0	C	129901141	T	C	129901141	3	2	81	1	0	0	0	0	1	0	0	0	9646	1725	60	3	819	3	MKI67	10	129901141	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	173	129901141	5633606	8221	11837											
MKI67	4288	broad.mit.edu	37	10	129901433	129901433	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:129901433G>A	ENST00000368654.3	-	13	9046	c.8671C>T	c.(8671-8673)Cgg>Tgg	p.R2891W	MKI67_ENST00000368653.3_Missense_Mutation_p.R2531W	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	2891	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TCCAGCTTCCGCTTTGCAGGT	0.547													67	86					0	0	1	0	0	A	129901433	G	A	129901433	3	1	81	1	0	0	0	0	1	0	0	0	9646	1086	38	1	1111	1	MKI67	10	129901433	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	292	129901433	5633314	8222	11838											
MKI67	4288	broad.mit.edu	37	10	129903287	129903287	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:129903287C>A	ENST00000368654.3	-	13	7192	c.6817G>T	c.(6817-6819)Gga>Tga	p.G2273*	MKI67_ENST00000368653.3_Nonsense_Mutation_p.G1913*	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	2273	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TCATCACCTCCTGCTGGTTTG	0.473													91	137					2.00703e-41	2.69607e-41	1	1	0	A	129903287	C	A	129903287	4	1	81	1	0	0	0	0	0	1	0	0	9646	690	24	4	2965	4	MKI67	10	129903287	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1854	129903287	5631460	8223	11839											
MKI67	4288	broad.mit.edu	37	10	129904331	129904331	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:129904331C>T	ENST00000368654.3	-	13	6148	c.5773G>A	c.(5773-5775)Gtg>Atg	p.V1925M	MKI67_ENST00000368653.3_Missense_Mutation_p.V1565M	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1925	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				AGTTTCTCCACTGGAGTCCCC	0.488													77	138					0	0	1	0	0	T	129904331	C	T	129904331	3	4	81	1	0	0	0	0	1	0	0	0	9646	565	20	2	4009	2	MKI67	10	129904331	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1044	129904331	5630416	8224	11840											
MKI67	4288	broad.mit.edu	37	10	129906300	129906300	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:129906300T>C	ENST00000368654.3	-	13	4179	c.3804A>G	c.(3802-3804)cgA>cgG	p.R1268R	MKI67_ENST00000368653.3_Silent_p.R908R	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1268	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TTCTCTTGGGTCGTTGCTTTG	0.502													18	161					0	0	1	0	0	C	129906300	T	C	129906300	2	2	81	1	0	0	0	0	0	0	0	1	9646	1654	58	3		3	MKI67	10	129906300	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	1969	129906300	5628447	8225	11841											
MKI67	4288	broad.mit.edu	37	10	129906896	129906896	+	Missense_Mutation	SNP	C	C	T	rs143061680		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:129906896C>T	ENST00000368654.3	-	13	3583	c.3208G>A	c.(3208-3210)Gag>Aag	p.E1070K	MKI67_ENST00000368653.3_Missense_Mutation_p.E710K	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1070	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TTTGGAGACTCCTTAAACGTT	0.562													81	118					0	0	1	0	0	T	129906896	C	T	129906896	3	4	81	1	0	0	0	0	1	0	0	0	9646	864	30	2	6574	2	MKI67	10	129906896	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	596	129906896	5627851	8226	11842											
MKI67	4288	broad.mit.edu	37	10	129908731	129908731	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:129908731G>A	ENST00000368654.3	-	12	2702	c.2327C>T	c.(2326-2328)gCt>gTt	p.A776V	MKI67_ENST00000368653.3_Missense_Mutation_p.A416V	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	776					cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				ATTTGAAATAGCGATGTGACA	0.408													40	85					0	0	1	0	0	A	129908731	G	A	129908731	3	1	81	1	0	0	0	0	1	0	0	0	9646	971	34	2	7459	2	MKI67	10	129908731	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1835	129908731	5626016	8227	11843											
MKI67	4288	broad.mit.edu	37	10	129910032	129910032	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:129910032A>G	ENST00000368654.3	-	11	2512	c.2137T>C	c.(2137-2139)Tct>Cct	p.S713P	MKI67_ENST00000484853.1_5'UTR|MKI67_ENST00000368653.3_Missense_Mutation_p.S353P	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	713					cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				GTACAAGGAGAGTTTGCGTGG	0.418													42	57					0	0	1	0	0	G	129910032	A	G	129910032	3	3	81	1	0	0	0	0	1	0	0	0	9646	304	11	3	7653	3	MKI67	10	129910032	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	1301	129910032	5624715	8228	11844											
MKI67	4288	broad.mit.edu	37	10	129913277	129913277	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:129913277C>A	ENST00000368654.3	-	7	1770	c.1395G>T	c.(1393-1395)gaG>gaT	p.E465D	MKI67_ENST00000368653.3_Intron	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	465					cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TGCCCAATTTCTCAGGCTTGC	0.413													7	195					2.17888e-05	2.43576e-05	1	1	0	A	129913277	C	A	129913277	3	1	81	1	0	0	0	0	1	0	0	0	9646	912	32	4	8411	4	MKI67	10	129913277	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3245	129913277	5621470	8229	11845											
MGMT	4255	broad.mit.edu	37	10	131506229	131506229	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:131506229C>T	ENST00000306010.7	+	3	321	c.289C>T	c.(289-291)Ctg>Ttg	p.L97L	MGMT_ENST00000462672.1_3'UTR	NM_002412.3	NP_002403.2	B4DEE8	B4DEE8_HUMAN	O-6-methylguanine-DNA methyltransferase	97										breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	10		all_cancers(35;9.44e-09)|all_epithelial(44;6.98e-08)|Lung NSC(174;0.0157)|all_lung(145;0.0201)|all_neural(114;0.0732)|Colorectal(57;0.0792)|Breast(234;0.167)		OV - Ovarian serous cystadenocarcinoma(35;0.00291)		CACAGCCTGGCTGAATGCCTA	0.597								Direct reversal of damage					35	44					0	0	1	0	0	T	131506229	C	T	131506229	2	4	81	1	0	0	0	0	0	0	0	1	9606	796	28	2		2	MGMT	10	131506229	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1592952	131506229	4028518	8230	11846											
TCERG1L	256536	broad.mit.edu	37	10	132891569	132891569	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:132891569C>A	ENST00000368642.4	-	12	1702	c.1617G>T	c.(1615-1617)aaG>aaT	p.K539N		NM_174937.3	NP_777597.2	Q5VWI1	TCRGL_HUMAN	transcription elongation regulator 1-like	539	FF 2.									cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	31		all_cancers(35;1.22e-10)|all_epithelial(44;2.65e-09)|Lung NSC(174;0.00188)|all_lung(145;0.00307)|Melanoma(40;0.0179)|all_neural(114;0.0424)|Breast(234;0.0743)|Colorectal(57;0.09)		all cancers(32;0.000899)|OV - Ovarian serous cystadenocarcinoma(35;0.0021)|Epithelial(32;0.00276)		CTGCAAACTCCTTAAACGTGG	0.473													30	48					5.90632e-09	7.07868e-09	1	1	0	A	132891569	C	A	132891569	3	1	81	1	0	0	0	0	1	0	0	0	15746	680	24	4	147	4	TCERG1L	10	132891569	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1385340	132891569	2643178	8231	11847											
PPP2R2D	55844	broad.mit.edu	37	10	133761112	133761112	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:133761112G>A	ENST00000422256.2	+	5	703	c.218G>A	c.(217-219)aGt>aAt	p.S73N	PPP2R2D_ENST00000470416.1_3'UTR			Q66LE6	2ABD_HUMAN	protein phosphatase 2, regulatory subunit B, delta	300					cell division|exit from mitosis|mitosis|signal transduction	cytoplasm|protein phosphatase type 2A complex	protein phosphatase type 2A regulator activity			endometrium(3)|large_intestine(3)|liver(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	13		all_cancers(35;2.16e-12)|all_epithelial(44;2.77e-09)|Lung NSC(174;0.00237)|all_lung(145;0.00354)|Colorectal(31;0.0124)|Breast(234;0.023)|all_neural(114;0.0299)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;7.86e-05)|Epithelial(32;8.82e-05)|all cancers(32;0.000106)|BRCA - Breast invasive adenocarcinoma(275;0.21)		GTAAAATTCAGTCATAGTGGG	0.463													4	46					0	0	1	0	0	A	133761112	G	A	133761112	3	1	81	1	0	0	0	0	1	0	0	0	12436	1029	36	2	823	2	PPP2R2D	10	133761112	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	869543	133761112	1773635	8232	11848											
JAKMIP3	282973	broad.mit.edu	37	10	133954008	133954008	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:133954008C>T	ENST00000298622.4	+	9	1536	c.1398C>T	c.(1396-1398)tcC>tcT	p.S466S		NM_001105521.2	NP_001098991.1			Janus kinase and microtubule interacting protein 3											breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	31		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)		CCCTGGAATCCGACGGCTCCT	0.587													12	16					0	0	1	0	0	T	133954008	C	T	133954008	2	4	81	1	0	0	0	0	0	0	0	1	7986	639	23	1		1	JAKMIP3	10	133954008	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	192896	133954008	1580739	8233	11849											
DPYSL4	10570	broad.mit.edu	37	10	134012358	134012358	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:134012358G>A	ENST00000338492.4	+	8	858	c.694G>A	c.(694-696)Gag>Aag	p.E232K	DPYSL4_ENST00000368629.1_Missense_Mutation_p.E132K|DPYSL4_ENST00000368627.1_Missense_Mutation_p.E132K	NM_006426.2	NP_006417.2	O14531	DPYL4_HUMAN	dihydropyrimidinase-like 4	232					axon guidance|pyrimidine base catabolic process	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		all_cancers(35;4.33e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;7.21e-05)|Epithelial(32;8.01e-05)|all cancers(32;9.29e-05)|BRCA - Breast invasive adenocarcinoma(275;0.206)		TCCCCAGGTGGAGGCTGAGGC	0.657													8	18					0	0	1	0	0	A	134012358	G	A	134012358	3	1	81	1	0	0	0	0	1	0	0	0	4775	1175	41	2	724	2	DPYSL4	10	134012358	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	58350	134012358	1522389	8234	11850											
DPYSL4	10570	broad.mit.edu	37	10	134013930	134013930	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:134013930C>T	ENST00000338492.4	+	9	1046	c.882C>T	c.(880-882)aaC>aaT	p.N294N	DPYSL4_ENST00000368629.1_Silent_p.N194N|DPYSL4_ENST00000368627.1_Silent_p.N194N	NM_006426.2	NP_006417.2	O14531	DPYL4_HUMAN	dihydropyrimidinase-like 4	294					axon guidance|pyrimidine base catabolic process	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		all_cancers(35;4.33e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;7.21e-05)|Epithelial(32;8.01e-05)|all cancers(32;9.29e-05)|BRCA - Breast invasive adenocarcinoma(275;0.206)		GGAGCAAGAACTGGGCCAAGG	0.652													27	36					0	0	1	0	0	T	134013930	C	T	134013930	2	4	81	1	0	0	0	0	0	0	0	1	4775	564	20	2		2	DPYSL4	10	134013930	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1572	134013930	1520817	8235	11851											
DPYSL4	10570	broad.mit.edu	37	10	134015524	134015524	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:134015524C>A	ENST00000338492.4	+	11	1349	c.1185C>A	c.(1183-1185)taC>taA	p.Y395*	DPYSL4_ENST00000368629.1_Nonsense_Mutation_p.Y295*|DPYSL4_ENST00000368627.1_Nonsense_Mutation_p.Y295*	NM_006426.2	NP_006417.2	O14531	DPYL4_HUMAN	dihydropyrimidinase-like 4	395					axon guidance|pyrimidine base catabolic process	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		all_cancers(35;4.33e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;7.21e-05)|Epithelial(32;8.01e-05)|all cancers(32;9.29e-05)|BRCA - Breast invasive adenocarcinoma(275;0.206)		TCAATTTTTACCCAAGGAAGG	0.532													5	67					0.0381472	0.0389402	1	1	0	A	134015524	C	A	134015524	4	1	81	1	0	0	0	0	0	1	0	0	4775	518	18	5	1227	5	DPYSL4	10	134015524	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1594	134015524	1519223	8236	11852											
DPYSL4	10570	broad.mit.edu	37	10	134015567	134015567	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:134015567G>A	ENST00000338492.4	+	11	1392	c.1228G>A	c.(1228-1230)Gtc>Atc	p.V410I	DPYSL4_ENST00000368629.1_Missense_Mutation_p.V310I|DPYSL4_ENST00000368627.1_Missense_Mutation_p.V310I	NM_006426.2	NP_006417.2	O14531	DPYL4_HUMAN	dihydropyrimidinase-like 4	410					axon guidance|pyrimidine base catabolic process	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		all_cancers(35;4.33e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;7.21e-05)|Epithelial(32;8.01e-05)|all cancers(32;9.29e-05)|BRCA - Breast invasive adenocarcinoma(275;0.206)		CGCTGACCTGGTCATATGGAA	0.547													18	51					0	0	1	0	0	A	134015567	G	A	134015567	3	1	81	1	0	0	0	0	1	0	0	0	4775	1261	44	2	1270	2	DPYSL4	10	134015567	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	43	134015567	1519180	8237	11853											
LRRC27	80313	broad.mit.edu	37	10	134165236	134165236	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:134165236C>A	ENST00000392638.2	+	8	1342	c.1147C>A	c.(1147-1149)Ctc>Atc	p.L383I	LRRC27_ENST00000368613.4_Missense_Mutation_p.A351D|LRRC27_ENST00000432555.2_Missense_Mutation_p.A224D|LRRC27_ENST00000475747.1_3'UTR|LRRC27_ENST00000368614.3_Missense_Mutation_p.A351D|LRRC27_ENST00000344079.5_Missense_Mutation_p.L383I|LRRC27_ENST00000368612.1_Missense_Mutation_p.A289D|LRRC27_ENST00000368610.3_Missense_Mutation_p.A289D|LRRC27_ENST00000368615.3_Missense_Mutation_p.A351D			Q9C0I9	LRC27_HUMAN	leucine rich repeat containing 27	0										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)	18		all_cancers(35;6.28e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;9.12e-05)|Epithelial(32;0.000116)|all cancers(32;0.000145)|BRCA - Breast invasive adenocarcinoma(275;0.218)		GAGAAGCAGGCTCTGATGGAG	0.612													5	56					0.000602214	0.000646338	1	1	0	A	134165236	C	A	134165236	3	1	81	1	0	0	0	0	1	0	0	0	9026	797	28	4	1173	4	LRRC27	10	134165236	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	149669	134165236	1369511	8238	11854											
PWWP2B	170394	broad.mit.edu	37	10	134219521	134219521	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:134219521C>T	ENST00000305233.5	+	2	1576	c.1517C>T	c.(1516-1518)gCg>gTg	p.A506V	PWWP2B_ENST00000368609.4_Intron	NM_138499.3	NP_612508.3	Q6NUJ5	PWP2B_HUMAN	PWWP domain containing 2B	506	PWWP.									central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|urinary_tract(1)	9		all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224)		OV - Ovarian serous cystadenocarcinoma(35;7.49e-05)|Epithelial(32;0.00016)|all cancers(32;0.000186)		TGGTGGCCGGCGCGTGTTCTT	0.597													41	53					0	0	1	0	0	T	134219521	C	T	134219521	3	4	81	1	0	0	0	0	1	0	0	0	12898	768	27	1	1523	1	PWWP2B	10	134219521	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	54285	134219521	1315226	8239	11855											
KNDC1	85442	broad.mit.edu	37	10	135015155	135015155	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:135015155A>G	ENST00000304613.3	+	17	3161	c.3140A>G	c.(3139-3141)cAg>cGg	p.Q1047R	KNDC1_ENST00000368571.2_Missense_Mutation_p.Q982R|KNDC1_ENST00000368572.2_Missense_Mutation_p.Q1049R			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	1047					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction					NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		AGAGCGCAGCAGCCTGAGGCT	0.667													13	24					0	0	1	0	0	G	135015155	A	G	135015155	3	3	81	1	0	0	0	0	1	0	0	0	8469	188	7	3	3206	3	KNDC1	10	135015155	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	795634	135015155	519592	8240	11856											
VENTX	27287	broad.mit.edu	37	10	135053709	135053709	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:135053709G>A	ENST00000325980.9	+	3	1187	c.676G>A	c.(676-678)Gcg>Acg	p.A226T		NM_014468.3	NP_055283.1	O95231	VENTX_HUMAN	VENT homeobox	226					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(1)|large_intestine(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(1)	14		all_cancers(35;4.15e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;7.8e-06)|Epithelial(32;9.31e-06)|all cancers(32;1.19e-05)		GCAGCCTCTGGCGTCCCACCC	0.692													7	9					0	0	1	0	0	A	135053709	G	A	135053709	3	1	81	1	0	0	0	0	1	0	0	0	17213	1203	42	2	686	2	VENTX	10	135053709	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	38554	135053709	481038	8241	11857											
ADAM8	101	broad.mit.edu	37	10	135085933	135085933	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:135085933C>T	ENST00000445355.3	-	9	912	c.862G>A	c.(862-864)Gta>Ata	p.V288I	ADAM8_ENST00000485491.2_Missense_Mutation_p.V249I|ADAM8_ENST00000415217.3_Missense_Mutation_p.V288I	NM_001109.4	NP_001100.3	B4DVM6	B4DVM6_HUMAN	ADAM metallopeptidase domain 8	249					integrin-mediated signaling pathway|proteolysis		metalloendopeptidase activity			central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)	17		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		all cancers(32;7.72e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.23e-06)|Epithelial(32;1.02e-05)		ATGAGCTGTACGTTGTCATGC	0.687													15	19					0	0	1	0	0	T	135085933	C	T	135085933	3	4	81	1	0	0	0	0	1	0	0	0	251	536	19	1	1590	1	ADAM8	10	135085933	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	32224	135085933	448814	8242	11858											
TUBGCP2	10844	broad.mit.edu	37	10	135102452	135102452	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:135102452G>A	ENST00000368563.2	-	10	1789	c.1433C>T	c.(1432-1434)aCg>aTg	p.T478M	TUBGCP2_ENST00000252936.3_Missense_Mutation_p.T478M|TUBGCP2_ENST00000368562.1_Missense_Mutation_p.T71M|TUBGCP2_ENST00000543663.1_Missense_Mutation_p.T506M|TUBGCP2_ENST00000417178.2_Missense_Mutation_p.T348M	NM_001256617.1|NM_006659.3	NP_001243546.1|NP_006650.1	Q9BSJ2	GCP2_HUMAN	tubulin, gamma complex associated protein 2	478					G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly	centrosome|cytoplasmic microtubule|cytosol|spindle pole	protein binding			breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	35		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.87e-06)|all cancers(32;8.98e-06)|Epithelial(32;1.15e-05)		CTCTTTTAACGTGTAGATGAT	0.478													16	40					0	0	1	0	0	A	135102452	G	A	135102452	3	1	81	1	0	0	0	0	1	0	0	0	16828	1145	40	1	1311	1	TUBGCP2	10	135102452	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	16519	135102452	432295	8243	11859											
ZNF511	118472	broad.mit.edu	37	10	135125423	135125423	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:135125423C>T	ENST00000359035.3	+	5	761	c.758C>T	c.(757-759)gCa>gTa	p.A253V	ZNF511_ENST00000368554.4_Intron|ZNF511_ENST00000361518.5_Intron|ZNF511_ENST00000463816.2_Intron			Q8NB15	ZN511_HUMAN	zinc finger protein 511	253					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	8		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		all cancers(32;7.56e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.15e-06)|Epithelial(32;9.99e-06)		ACCTGGGCCGCAGCTCTTCTC	0.493													12	30					0	0	1	0	0	T	135125423	C	T	135125423	3	4	81	1	0	0	0	0	1	0	0	0	18012	725	25	2		2	ZNF511	10	135125423	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	22971	135125423	409324	8244	11860											
ECHS1	1892	broad.mit.edu	37	10	135176413	135176413	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:135176413C>T	ENST00000368547.3	-	8	1187	c.832G>A	c.(832-834)Gcg>Acg	p.A278T		NM_004092.3	NP_004083.3	P30084	ECHM_HUMAN	enoyl CoA hydratase, short chain, 1, mitochondrial	278					fatty acid beta-oxidation	mitochondrial matrix	enoyl-CoA hydratase activity|protein binding			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)|skin(1)	10		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		all cancers(32;1.62e-06)|OV - Ovarian serous cystadenocarcinoma(35;5.75e-06)|Epithelial(32;7.58e-06)		TCCACAAACGCGGTCATCCCT	0.542													22	43					0	0	1	0	0	T	135176413	C	T	135176413	3	4	81	1	0	0	0	0	1	0	0	0	4922	768	27	1	44	1	ECHS1	10	135176413	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	50990	135176413	358334	8245	11861											
PAOX	196743	broad.mit.edu	37	10	135204907	135204907	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:135204907G>A	ENST00000278060.5	+	7	1567	c.1484G>A	c.(1483-1485)cGc>cAc	p.R495H	PAOX_ENST00000368535.2_3'UTR|PAOX_ENST00000368539.4_3'UTR|PAOX_ENST00000480071.2_3'UTR|PAOX_ENST00000357296.3_Silent_p.P442P|RP11-108K14.8_ENST00000468317.2_Silent_p.P34P	NM_152911.2	NP_690875.1	Q6QHF9	PAOX_HUMAN	polyamine oxidase (exo-N4-amino)	633					polyamine biosynthetic process|xenobiotic metabolic process	peroxisomal matrix	polyamine oxidase activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|urinary_tract(2)	23		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		all cancers(32;4.39e-07)|OV - Ovarian serous cystadenocarcinoma(35;1.21e-06)|Epithelial(32;1.94e-06)		GAGGCCGACCGCCTCCTCAGT	0.662													24	44					0	0	1	0	0	A	135204907	G	A	135204907	3	1	81	1	0	0	0	0	1	0	0	0	11470	1087	38	1	1510	1	PAOX	10	135204907	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	28494	135204907	329840	8246	11862											
FRG2B	441581	broad.mit.edu	37	10	135438839	135438839	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:135438839G>T	ENST00000443774.1	-	4	653	c.604C>A	c.(604-606)Cca>Aca	p.P202T	FRG2B_ENST00000425520.1_Missense_Mutation_p.P201T			Q96QU4	FRG2B_HUMAN	FSHD region gene 2 family, member B	201						nucleus				endometrium(2)|kidney(2)|lung(14)|ovary(1)|prostate(1)	20		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)		CAGGTAAGTGGAGAATGGATC	0.552													22	46					2.89027e-11	3.57291e-11	1	1	0	T	135438839	G	T	135438839	3	4	81	1	0	0	0	0	1	0	0	0	6082	1174	41	5	238	5	FRG2B	10	135438839	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	233932	135438839	95908	8247	11863											
B4GALNT4	338707	broad.mit.edu	37	11	373108	373108	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:373108C>T	ENST00000329962.6	+	5	527	c.527C>T	c.(526-528)gCg>gTg	p.A176V		NM_178537.4	NP_848632.2	Q76KP1	B4GN4_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 4	176						Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity	p.A176E(1)		endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		ATCCACCCGGCGAGGGACGGT	0.627													26	28					0	0	1	0	0	T	373108	C	T	373108	3	4	81	1	0	0	0	0	1	0	0	0	1267	768	27	1	545	1	B4GALNT4	11	373108	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08		373108	134633408	8248	11864											
B4GALNT4	338707	broad.mit.edu	37	11	380183	380183	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:380183C>T	ENST00000329962.6	+	17	2696	c.2696C>T	c.(2695-2697)gCg>gTg	p.A899V		NM_178537.4	NP_848632.2	Q76KP1	B4GN4_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 4	899						Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GGGCTGCAGGCGGGAGTGGAC	0.711													4	21					0	0	1	0	0	T	380183	C	T	380183	3	4	81	1	0	0	0	0	1	0	0	0	1267	768	27	1	2762	1	B4GALNT4	11	380183	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	7075	380183	134626333	8249	11865											
PKP3	11187	broad.mit.edu	37	11	396684	396684	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:396684C>A	ENST00000331563.2	+	2	385	c.309C>A	c.(307-309)acC>acA	p.T103T	PKP3_ENST00000530695.1_3'UTR	NM_007183.2	NP_009114.1	Q9Y446	PKP3_HUMAN	plakophilin 3	103					cell adhesion	desmosome|nucleus	binding			breast(1)|central_nervous_system(1)|endometrium(3)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GGGACAAGACCTCGGTGAGCG	0.672													9	12					0.000442599	0.000477972	1	1	0	A	396684	C	A	396684	2	1	81	1	0	0	0	0	0	0	0	1	12034	668	24	4		4	PKP3	11	396684	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	16501	396684	134609832	8250	11866											
SIGIRR	59307	broad.mit.edu	37	11	408207	408207	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:408207C>A	ENST00000431843.2	-	4	513		c.e4-1		SIGIRR_ENST00000397632.3_Splice_Site|SIGIRR_ENST00000382520.2_Splice_Site|SIGIRR_ENST00000531205.1_Splice_Site|SIGIRR_ENST00000332725.3_Splice_Site|SIGIRR_ENST00000529486.1_Splice_Site	NM_001135054.1	NP_001128526.1	Q6IA17	SIGIR_HUMAN	single immunoglobulin and toll-interleukin 1 receptor (TIR) domain						acute-phase response|innate immune response|negative regulation of chemokine biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of lipopolysaccharide-mediated signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity	integral to membrane	protein binding|transmembrane receptor activity			cervix(2)|endometrium(1)|liver(1)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	13		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GGCCTTGACCCTGGGGATACC	0.612													31	56					5.43694e-19	7.07028e-19	1	1	0	A	408207	C	A	408207	5	1	81	1	0	0	0	0	0	0	1	0	14359	695	24	4	1054	4	SIGIRR	11	408207	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	11523	408207	134598309	8251	11867											
ANO9	338440	broad.mit.edu	37	11	428179	428179	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:428179C>T	ENST00000332826.6	-	15	1327	c.1243G>A	c.(1243-1245)Gag>Aag	p.E415K		NM_001012302.2	NP_001012302	A1A5B4	ANO9_HUMAN	anoctamin 9	415						chloride channel complex	chloride channel activity			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|lung(5)|ovary(1)|prostate(4)|skin(4)	21						CTCTCTCGCTCCGAGAAGGTC	0.607													14	24					0	0	1	0	0	T	428179	C	T	428179	3	4	81	1	0	0	0	0	1	0	0	0	698	864	30	2	1141	2	ANO9	11	428179	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	19972	428179	134578337	8252	11868											
RNH1	6050	broad.mit.edu	37	11	498076	498076	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:498076C>A	ENST00000534797.1	-	7	2429	c.1022G>T	c.(1021-1023)aGg>aTg	p.R341M	RNH1_ENST00000397604.3_Missense_Mutation_p.R341M|RNH1_ENST00000397614.1_Missense_Mutation_p.R341M|RNH1_ENST00000356187.5_Missense_Mutation_p.R341M|RNH1_ENST00000438658.2_Missense_Mutation_p.R341M|RNH1_ENST00000533410.1_Missense_Mutation_p.R341M|RNH1_ENST00000354420.2_Missense_Mutation_p.R341M|RNH1_ENST00000397615.2_Missense_Mutation_p.R341M			P13489	RINI_HUMAN	ribonuclease/angiogenin inhibitor 1	341					mRNA catabolic process|regulation of angiogenesis	angiogenin-PRI complex|cytoplasm	protein binding|ribonuclease inhibitor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	10		all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;1.26e-26)|Epithelial(43;1.34e-25)|OV - Ovarian serous cystadenocarcinoma(40;5.31e-20)|BRCA - Breast invasive adenocarcinoma(625;8.01e-05)|Lung(200;0.0378)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CAGGAGAAACCTGTTCTGGGC	0.642													5	55					0.184627	0.18622	1	1	0	A	498076	C	A	498076	3	1	81	1	0	0	0	0	1	0	0	0	13556	681	24	4	375	4	RNH1	11	498076	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	69897	498076	134508440	8253	11869											
RNH1	6050	broad.mit.edu	37	11	499119	499119	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:499119C>T	ENST00000534797.1	-	4	1917	c.510G>A	c.(508-510)ccG>ccA	p.P170P	RNH1_ENST00000397604.3_Silent_p.P170P|RNH1_ENST00000397614.1_Silent_p.P170P|RNH1_ENST00000356187.5_Silent_p.P170P|RNH1_ENST00000438658.2_Silent_p.P170P|RNH1_ENST00000533410.1_Silent_p.P170P|RNH1_ENST00000354420.2_Silent_p.P170P|RNH1_ENST00000397615.2_Silent_p.P170P			P13489	RINI_HUMAN	ribonuclease/angiogenin inhibitor 1	170			P -> L (in dbSNP:rs17585).		mRNA catabolic process|regulation of angiogenesis	angiogenin-PRI complex|cytoplasm	protein binding|ribonuclease inhibitor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	10		all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;1.26e-26)|Epithelial(43;1.34e-25)|OV - Ovarian serous cystadenocarcinoma(40;5.31e-20)|BRCA - Breast invasive adenocarcinoma(625;8.01e-05)|Lung(200;0.0378)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CCTTGAAGTCCGGCTTGGCCC	0.647													8	27					0	0	1	0	0	T	499119	C	T	499119	2	4	81	1	0	0	0	0	0	0	0	1	13556	639	23	1		1	RNH1	11	499119	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1043	499119	134507397	8254	11870											
LRRC56	115399	broad.mit.edu	37	11	550080	550080	+	Silent	SNP	C	C	T	rs140852130	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:550080C>T	ENST00000270115.7	+	8	932	c.432C>T	c.(430-432)taC>taT	p.Y144Y		NM_198075.3	NP_932341.1	Q8IYG6	LRC56_HUMAN	leucine rich repeat containing 56	144										kidney(1)|lung(4)|skin(1)	6		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		AGGAACTCTACGCCTCCTACA	0.657													33	67					0	0	1	0	0	T	550080	C	T	550080	2	4	81	1	0	0	0	0	0	0	0	1	9057	547	19	1		1	LRRC56	11	550080	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	50961	550080	134456436	8255	11871											
LRRC56	115399	broad.mit.edu	37	11	554168	554168	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:554168C>T	ENST00000270115.7	+	14	2021	c.1521C>T	c.(1519-1521)cgC>cgT	p.R507R		NM_198075.3	NP_932341.1	Q8IYG6	LRC56_HUMAN	leucine rich repeat containing 56	507			R -> G (in dbSNP:rs10902170).							kidney(1)|lung(4)|skin(1)	6		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TGGCCTCACGCCTGAGCCCTC	0.697													5	14					0	0	1	0	0	T	554168	C	T	554168	2	4	81	1	0	0	0	0	0	0	0	1	9057	726	26	2		2	LRRC56	11	554168	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	4088	554168	134452348	8256	11872											
C11orf35	256329	broad.mit.edu	37	11	558622	558622	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:558622C>T	ENST00000329451.3	-	3	365	c.303G>A	c.(301-303)ccG>ccA	p.P101P	RP11-496I9.1_ENST00000527620.1_RNA	NM_173573.2	NP_775844.2	Q8IXW0	CK035_HUMAN	chromosome 11 open reading frame 35	101										NS(1)|breast(1)|central_nervous_system(1)|lung(4)|pancreas(1)	8		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;7.18e-28)|Epithelial(43;6.93e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.97e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		ACCTCTTGGGCGGAAGCCCCG	0.667													5	6					0	0	1	0	0	T	558622	C	T	558622	2	4	81	1	0	0	0	0	0	0	0	1	1643	755	27	1		1	C11orf35	11	558622	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	4454	558622	134447894	8257	11873											
PHRF1	57661	broad.mit.edu	37	11	587330	587330	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:587330G>A	ENST00000264555.5	+	4	414	c.286G>A	c.(286-288)Gct>Act	p.A96T	PHRF1_ENST00000413872.2_Missense_Mutation_p.A95T|PHRF1_ENST00000533464.1_Missense_Mutation_p.A92T|PHRF1_ENST00000416188.2_Missense_Mutation_p.A96T	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	96							RNA polymerase binding|zinc ion binding			breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						ACTGGAAGCCGCTGGCTCTTT	0.557													14	31					0	0	1	0	0	A	587330	G	A	587330	3	1	81	1	0	0	0	0	1	0	0	0	11909	1087	38	1	296	1	PHRF1	11	587330	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	28708	587330	134419186	8258	11874											
PHRF1	57661	broad.mit.edu	37	11	592614	592614	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:592614A>G	ENST00000264555.5	+	6	688	c.560A>G	c.(559-561)gAg>gGg	p.E187G	PHRF1_ENST00000413872.2_Missense_Mutation_p.E186G|PHRF1_ENST00000533464.1_Missense_Mutation_p.E183G|PHRF1_ENST00000416188.2_Missense_Mutation_p.E187G	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	187							RNA polymerase binding|zinc ion binding			breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						ACCTTCTGTGAGGTGTGCGGC	0.627													7	135					0	0	1	0	0	G	592614	A	G	592614	3	3	81	1	0	0	0	0	1	0	0	0	11909	304	11	3	578	3	PHRF1	11	592614	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	5284	592614	134413902	8259	11875											
PHRF1	57661	broad.mit.edu	37	11	607285	607285	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:607285C>T	ENST00000264555.5	+	14	1957	c.1829C>T	c.(1828-1830)gCg>gTg	p.A610V	PHRF1_ENST00000413872.2_Missense_Mutation_p.A608V|PHRF1_ENST00000533464.1_Missense_Mutation_p.A606V|PHRF1_ENST00000416188.2_Missense_Mutation_p.A609V	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	610							RNA polymerase binding|zinc ion binding			breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						GCCCCTGGGGCGGTTCAGGCT	0.667													36	45					0	0	1	0	0	T	607285	C	T	607285	3	4	81	1	0	0	0	0	1	0	0	0	11909	768	27	1	1876	1	PHRF1	11	607285	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	14671	607285	134399231	8260	11876											
PHRF1	57661	broad.mit.edu	37	11	608157	608157	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:608157G>A	ENST00000264555.5	+	14	2829	c.2701G>A	c.(2701-2703)Gcc>Acc	p.A901T	PHRF1_ENST00000413872.2_Missense_Mutation_p.A899T|PHRF1_ENST00000533464.1_Missense_Mutation_p.A897T|PHRF1_ENST00000416188.2_Missense_Mutation_p.A900T	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	901							RNA polymerase binding|zinc ion binding	p.A906S(1)|p.A901S(1)		breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						ACCGTCCTCCGCCATGTCCAA	0.692													29	37					0	0	1	0	0	A	608157	G	A	608157	3	1	81	1	0	0	0	0	1	0	0	0	11909	1087	38	1	2748	1	PHRF1	11	608157	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	872	608157	134398359	8261	11877											
PHRF1	57661	broad.mit.edu	37	11	608259	608259	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:608259C>T	ENST00000264555.5	+	14	2931	c.2803C>T	c.(2803-2805)Cca>Tca	p.P935S	PHRF1_ENST00000413872.2_Missense_Mutation_p.P933S|PHRF1_ENST00000533464.1_Missense_Mutation_p.P931S|PHRF1_ENST00000416188.2_Missense_Mutation_p.P934S	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	935							RNA polymerase binding|zinc ion binding			breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						GCTGCGGAGGCCATCCCCCCC	0.682													10	12					0	0	1	0	0	T	608259	C	T	608259	3	4	81	1	0	0	0	0	1	0	0	0	11909	739	26	2	2850	2	PHRF1	11	608259	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	102	608259	134398257	8262	11878											
PHRF1	57661	broad.mit.edu	37	11	609157	609157	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:609157C>T	ENST00000264555.5	+	14	3829	c.3701C>T	c.(3700-3702)aCg>aTg	p.T1234M	PHRF1_ENST00000413872.2_Missense_Mutation_p.T1232M|PHRF1_ENST00000533464.1_Missense_Mutation_p.T1230M|PHRF1_ENST00000416188.2_Missense_Mutation_p.T1233M	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	1234							RNA polymerase binding|zinc ion binding			breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						GAGGTGGCTACGGCCGACAAG	0.692													9	33					0	0	1	0	0	T	609157	C	T	609157	3	4	81	1	0	0	0	0	1	0	0	0	11909	536	19	1	3748	1	PHRF1	11	609157	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	898	609157	134397359	8263	11879											
IRF7	3665	broad.mit.edu	37	11	612999	612999	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:612999C>A	ENST00000397566.1	-	8	1804	c.1395G>T	c.(1393-1395)aaG>aaT	p.K465N	IRF7_ENST00000330243.5_Splice_Site_p.K465N|IRF7_ENST00000348655.6_Splice_Site_p.K423N|IRF7_ENST00000397574.2_Splice_Site_p.K452N|IRF7_ENST00000397562.3_Splice_Site_p.K159N|IRF7_ENST00000397570.1_Splice_Site_p.K423N|IRF7_ENST00000525445.1_Splice_Site_p.K346N	NM_004031.2	NP_004022.2	Q92985	IRF7_HUMAN	interferon regulatory factor 7	452					interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of interferon-alpha production|positive regulation of transcription from RNA polymerase II promoter|response to virus|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytosol|endosome membrane|nucleoplasm|plasma membrane	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(49;1.69e-08)|all_epithelial(84;1.65e-05)|Breast(177;0.000231)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;7.68e-28)|Epithelial(43;7.44e-27)|OV - Ovarian serous cystadenocarcinoma(40;3.53e-21)|BRCA - Breast invasive adenocarcinoma(625;6.96e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CTGGTCTCACCTTCACCAGGA	0.652													11	80					0.000673444	0.000721718	1	1	0	A	612999	C	A	612999	5	1	81	1	0	0	0	0	0	0	1	0	7879	695	24	4	163	4	IRF7	11	612999	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3842	612999	134393517	8264	11880											
IRF7	3665	broad.mit.edu	37	11	613580	613580	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:613580G>A	ENST00000397566.1	-	7	1311	c.902C>T	c.(901-903)gCg>gTg	p.A301V	IRF7_ENST00000330243.5_Missense_Mutation_p.A301V|IRF7_ENST00000348655.6_Missense_Mutation_p.A259V|IRF7_ENST00000397574.2_Missense_Mutation_p.A288V|IRF7_ENST00000397562.3_5'UTR|IRF7_ENST00000397570.1_Missense_Mutation_p.A259V|IRF7_ENST00000525445.1_Missense_Mutation_p.A182V	NM_004031.2	NP_004022.2	Q92985	IRF7_HUMAN	interferon regulatory factor 7	288					interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of interferon-alpha production|positive regulation of transcription from RNA polymerase II promoter|response to virus|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytosol|endosome membrane|nucleoplasm|plasma membrane	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(49;1.69e-08)|all_epithelial(84;1.65e-05)|Breast(177;0.000231)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;7.68e-28)|Epithelial(43;7.44e-27)|OV - Ovarian serous cystadenocarcinoma(40;3.53e-21)|BRCA - Breast invasive adenocarcinoma(625;6.96e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CACGTCCAGCGCCCCTGGGCT	0.667													9	7					0	0	1	0	0	A	613580	G	A	613580	3	1	81	1	0	0	0	0	1	0	0	0	7879	1087	38	1	660	1	IRF7	11	613580	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	581	613580	134392936	8265	11881											
CDHR5	53841	broad.mit.edu	37	11	621608	621608	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:621608C>T	ENST00000358353.3	-	6	783	c.461G>A	c.(460-462)cGc>cAc	p.R154H	CDHR5_ENST00000397542.2_Missense_Mutation_p.R154H|CDHR5_ENST00000349570.7_Missense_Mutation_p.R154H			Q9HBB8	CDHR5_HUMAN	cadherin-related family member 5	154	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	23						GTCCTTGTCGCGGTCCTCAGC	0.637													29	47					0	0	1	0	0	T	621608	C	T	621608	3	4	81	1	0	0	0	0	1	0	0	0	3144	768	27	1	2120	1	CDHR5	11	621608	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	8028	621608	134384908	8266	11882											
DEAF1	10522	broad.mit.edu	37	11	686916	686916	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:686916C>T	ENST00000382409.3	-	5	1230	c.746G>A	c.(745-747)aGt>aAt	p.S249N	DEAF1_ENST00000338675.6_Intron	NM_021008.2	NP_066288.2	O75398	DEAF1_HUMAN	DEAF1 transcription factor	249	SAND.				embryonic skeletal system development|germ cell development|neural tube closure|regulation of mammary gland epithelial cell proliferation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|extracellular region|nucleus	protein binding|zinc ion binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;1.76e-27)|Epithelial(43;8.42e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.55e-21)|BRCA - Breast invasive adenocarcinoma(625;4.83e-05)|Lung(200;0.0259)|LUSC - Lung squamous cell carcinoma(625;0.075)		CCAGTCCTTACTGCTGGCTCT	0.602													5	39					0	0	1	0	0	T	686916	C	T	686916	3	4	81	1	0	0	0	0	1	0	0	0	4403	565	20	2	983	2	DEAF1	11	686916	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	65308	686916	134319600	8267	11883											
TALDO1	6888	broad.mit.edu	37	11	755902	755902	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:755902G>A	ENST00000319006.3	+	2	274	c.121G>A	c.(121-123)Gat>Aat	p.D41N	TALDO1_ENST00000528097.1_Missense_Mutation_p.D41N			P37837	TALDO_HUMAN	transaldolase 1	41					energy reserve metabolic process|xylulose biosynthetic process	cytosol	protein binding|sedoheptulose-7-phosphate:D-glyceraldehyde-3-phosphate glyceronetransferase activity			breast(1)|kidney(2)|large_intestine(5)|lung(4)|prostate(2)	14		all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198)		all cancers(45;4.66e-26)|Epithelial(43;2.97e-25)|OV - Ovarian serous cystadenocarcinoma(40;1.48e-19)|BRCA - Breast invasive adenocarcinoma(625;4.41e-05)|Lung(200;0.0595)|LUSC - Lung squamous cell carcinoma(625;0.0712)		CAAGCCCCAGGATGCTACCAC	0.552													7	39					0	0	1	0	0	A	755902	G	A	755902	3	1	81	1	0	0	0	0	1	0	0	0	15600	1174	41	2	127	2	TALDO1	11	755902	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	68986	755902	134250614	8268	11884											
PDDC1	347862	broad.mit.edu	37	11	771345	771345	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:771345C>T	ENST00000319863.8	-	6	553	c.532G>A	c.(532-534)Gcc>Acc	p.A178T	PDDC1_ENST00000524550.1_Missense_Mutation_p.A142T|PDDC1_ENST00000526325.1_3'UTR|PDDC1_ENST00000529966.1_5'UTR|PDDC1_ENST00000442059.2_Missense_Mutation_p.A128T|PDDC1_ENST00000397472.2_Missense_Mutation_p.A178T	NM_182612.2	NP_872418.1	Q8NB37	PDDC1_HUMAN	Parkinson disease 7 domain containing 1	178						extracellular region				kidney(1)|lung(3)|urinary_tract(1)	5		all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198)		all cancers(45;3.66e-26)|Epithelial(43;2.43e-25)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-19)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CTGAAGCAGGCGCCCGAATCC	0.697													6	12					0	0	1	0	0	T	771345	C	T	771345	3	4	81	1	0	0	0	0	1	0	0	0	11676	768	27	1	142	1	PDDC1	11	771345	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	15443	771345	134235171	8269	11885											
SLC25A22	79751	broad.mit.edu	37	11	792355	792355	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:792355C>A	ENST00000320230.5	-	8	1172	c.691G>T	c.(691-693)Gcc>Tcc	p.A231S	SLC25A22_ENST00000531214.1_Missense_Mutation_p.A231S	NM_001191061.1|NM_024698.5	NP_001177990.1|NP_078974.1	Q9H936	GHC1_HUMAN	solute carrier family 25 (mitochondrial carrier: glutamate), member 22	231						integral to membrane|mitochondrial inner membrane|nucleus	L-glutamate transmembrane transporter activity|protein binding|symporter activity			endometrium(1)|kidney(1)|lung(2)|urinary_tract(1)	5		all_cancers(49;4.75e-06)|all_epithelial(84;0.00204)|Breast(177;0.00234)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;6.27e-26)|Epithelial(43;4.84e-25)|OV - Ovarian serous cystadenocarcinoma(40;2.72e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	L-Glutamic Acid(DB00142)	ACACAGCCGGCCAGGAAGGAC	0.667													9	96					2.17888e-05	2.43576e-05	1	1	0	A	792355	C	A	792355	3	1	81	1	0	0	0	0	1	0	0	0	14540	739	26	5	292	5	SLC25A22	11	792355	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	21010	792355	134214161	8270	11886											
CD151	977	broad.mit.edu	37	11	836123	836123	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:836123C>T	ENST00000397420.3	+	3	303	c.54C>T	c.(52-54)taC>taT	p.Y18Y	CD151_ENST00000528011.1_Silent_p.Y18Y|CD151_ENST00000322008.4_Silent_p.Y18Y|CD151_ENST00000397421.1_Silent_p.Y18Y			P48509	CD151_HUMAN	CD151 molecule (Raph blood group)	18					cell adhesion|hemidesmosome assembly	cytosol|integral to plasma membrane|membrane fraction	protein binding			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	3		all_cancers(49;2.31e-08)|all_epithelial(84;3.72e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.179)|all_lung(207;0.227)		all cancers(45;1.54e-25)|Epithelial(43;1.22e-24)|OV - Ovarian serous cystadenocarcinoma(40;6.91e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GCCTCAAGTACCTGCTGTTTA	0.632													11	17					0	0	1	0	0	T	836123	C	T	836123	2	4	81	1	0	0	0	0	0	0	0	1	2987	518	18	2		2	CD151	11	836123	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	43768	836123	134170393	8271	11887											
TSPAN4	7106	broad.mit.edu	37	11	866626	866626	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:866626C>T	ENST00000397404.1	+	9	972	c.713C>T	c.(712-714)gCg>gTg	p.A238V	TSPAN4_ENST00000397411.2_Missense_Mutation_p.A238V|TSPAN4_ENST00000346501.4_Missense_Mutation_p.A204V|TSPAN4_ENST00000409543.2_Missense_Mutation_p.A238V|TSPAN4_ENST00000397408.1_Missense_Mutation_p.A238V|TSPAN4_ENST00000397406.1_Missense_Mutation_p.A238V|TSPAN4_ENST00000397397.2_Missense_Mutation_p.A238V|TSPAN4_ENST00000397396.1_Missense_Mutation_p.A174V|TSPAN4_ENST00000525201.1_Missense_Mutation_p.A174V|TSPAN4_ENST00000409531.1_Missense_Mutation_p.A257V	NM_001025237.1	NP_001020408.1	O14817	TSN4_HUMAN	tetraspanin 4	238					protein complex assembly	integral to plasma membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)	3		all_cancers(49;2.64e-08)|all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)		all cancers(45;4.32e-25)|Epithelial(43;3.29e-24)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		ACCTACTGCGCGTAGGCCGCC	0.652													6	12					0	0	1	0	0	T	866626	C	T	866626	3	4	81	1	0	0	0	0	1	0	0	0	16710	768	27	1	739	1	TSPAN4	11	866626	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	30503	866626	134139890	8272	11888											
CHID1	66005	broad.mit.edu	37	11	883219	883219	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:883219G>T	ENST00000449825.1	-	10	1244	c.888C>A	c.(886-888)ctC>ctA	p.L296L	CHID1_ENST00000323541.7_Silent_p.L326L|CHID1_ENST00000323578.8_Silent_p.L296L|CHID1_ENST00000526714.1_5'UTR|CHID1_ENST00000436108.2_Silent_p.L296L|CHID1_ENST00000336845.5_Silent_p.L321L|CHID1_ENST00000528581.1_Silent_p.L321L|CHID1_ENST00000429789.2_Silent_p.L265L|CHID1_ENST00000454838.2_Silent_p.L321L	NM_001142675.1	NP_001136147.1	Q9BWS9	CHID1_HUMAN	chitinase domain containing 1	296					chitin catabolic process|innate immune response	extracellular region|lysosome	cation binding|chitinase activity			endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	13		all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;5.48e-25)|Epithelial(43;3.75e-24)|BRCA - Breast invasive adenocarcinoma(625;4.65e-05)|Lung(200;0.0624)|LUSC - Lung squamous cell carcinoma(625;0.0735)		TGAGCCCCAGGAGGATTTTGC	0.632													6	147					2.0095e-06	2.30238e-06	1	1	0	T	883219	G	T	883219	2	4	81	1	0	0	0	0	0	0	0	1	3367	1161	41	5		5	CHID1	11	883219	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	16593	883219	134123297	8273	11889											
AP2A2	161	broad.mit.edu	37	11	977142	977142	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:977142G>A	ENST00000448903.2	+	5	662	c.521G>A	c.(520-522)cGc>cAc	p.R174H	AP2A2_ENST00000534328.1_Missense_Mutation_p.R174H|AP2A2_ENST00000332231.5_Missense_Mutation_p.R174H	NM_001242837.1|NM_012305.3	NP_001229766.1|NP_036437.1	O94973	AP2A2_HUMAN	adaptor-related protein complex 2, alpha 2 subunit	174					axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction	AP-2 adaptor complex|cytosol	lipid binding|protein transporter activity			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)	21		all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.75e-24)|BRCA - Breast invasive adenocarcinoma(625;5.73e-05)|Lung(200;0.0696)|LUSC - Lung squamous cell carcinoma(625;0.082)		TGCTTGCTGCGCCTGTACAGG	0.587													8	21					0	0	1	0	0	A	977142	G	A	977142	3	1	81	1	0	0	0	0	1	0	0	0	736	1087	38	1	539	1	AP2A2	11	977142	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	93923	977142	134029374	8274	11890											
AP2A2	161	broad.mit.edu	37	11	1006602	1006602	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:1006602G>A	ENST00000448903.2	+	17	2422	c.2281G>A	c.(2281-2283)Gac>Aac	p.D761N	AP2A2_ENST00000534328.1_Intron|AP2A2_ENST00000525891.1_3'UTR|AP2A2_ENST00000332231.5_Missense_Mutation_p.D762N	NM_001242837.1|NM_012305.3	NP_001229766.1|NP_036437.1	O94973	AP2A2_HUMAN	adaptor-related protein complex 2, alpha 2 subunit	761					axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction	AP-2 adaptor complex|cytosol	lipid binding|protein transporter activity			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)	21		all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.75e-24)|BRCA - Breast invasive adenocarcinoma(625;5.73e-05)|Lung(200;0.0696)|LUSC - Lung squamous cell carcinoma(625;0.082)		AATCTGTTCAGACGACCTTCA	0.423													47	42					0	0	1	0	0	A	1006602	G	A	1006602	3	1	81	1	0	0	0	0	1	0	0	0	736	942	33	2	2347	2	AP2A2	11	1006602	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	29460	1006602	133999914	8275	11891											
MUC6	4588	broad.mit.edu	37	11	1016442	1016442	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:1016442G>A	ENST00000421673.2	-	31	6409	c.6359C>T	c.(6358-6360)cCt>cTt	p.P2120L		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	2120	Ser-rich.|Thr-rich.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TGTGGAAACAGGAGTGGTTGC	0.527													43	33					0	0	1	0	0	A	1016442	G	A	1016442	3	1	81	1	0	0	0	0	1	0	0	0	10028	1000	35	2	972	2	MUC6	11	1016442	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	9840	1016442	133990074	8276	11892											
MUC6	4588	broad.mit.edu	37	11	1018737	1018737	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:1018737G>A	ENST00000421673.2	-	31	4114	c.4064C>T	c.(4063-4065)aCg>aTg	p.T1355M		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1355	Pro-rich.|Thr-rich.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CTGGGTGGCCGTTGTTCCTGG	0.582													49	66					0	0	1	0	0	A	1018737	G	A	1018737	3	1	81	1	0	0	0	0	1	0	0	0	10028	1145	40	1	3267	1	MUC6	11	1018737	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2295	1018737	133987779	8277	11893											
MUC6	4588	broad.mit.edu	37	11	1024853	1024853	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:1024853G>A	ENST00000421673.2	-	24	3266	c.3216C>T	c.(3214-3216)tgC>tgT	p.C1072C		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1072	VWFD 3.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CCTTGCTGTGGCAGGTGGCAA	0.672													13	15					0	0	1	0	0	A	1024853	G	A	1024853	2	1	81	1	0	0	0	0	0	0	0	1	10028	1195	42	2		2	MUC6	11	1024853	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	6116	1024853	133981663	8278	11894											
MUC6	4588	broad.mit.edu	37	11	1028756	1028756	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:1028756G>A	ENST00000421673.2	-	13	1531	c.1481C>T	c.(1480-1482)tCc>tTc	p.S494F		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	494	VWFD 2.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GAGGTGGGTGGACGTCTGCCT	0.657													7	14					0	0	1	0	0	A	1028756	G	A	1028756	3	1	81	1	0	0	0	0	1	0	0	0	10028	1174	41	2	5922	2	MUC6	11	1028756	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	3903	1028756	133977760	8279	11895											
MUC2	4583	broad.mit.edu	37	11	1077647	1077647	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:1077647G>T	ENST00000441003.2	+	3	424	c.397G>T	c.(397-399)Gcc>Tcc	p.A133S	MUC2_ENST00000359061.5_Missense_Mutation_p.A133S	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	133	VWFD 1.					inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	GAAGAGCGATGCCTACACCAA	0.672													7	3					5.18039e-06	5.88187e-06	1	1	0	T	1077647	G	T	1077647	3	4	81	1	0	0	0	0	1	0	0	0	10023	1319	46	5	407	5	MUC2	11	1077647	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	48891	1077647	133928869	8280	11896											
MUC2	4583	broad.mit.edu	37	11	1082672	1082672	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:1082672G>A	ENST00000441003.2	+	15	1948	c.1921G>A	c.(1921-1923)Gcc>Acc	p.A641T	MUC2_ENST00000359061.5_Missense_Mutation_p.A641T	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	641						inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	CGCCTGCACCGCCAAGGGCGT	0.642													7	17					0	0	1	0	0	A	1082672	G	A	1082672	3	1	81	1	0	0	0	0	1	0	0	0	10023	1087	38	1	1979	1	MUC2	11	1082672	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	5025	1082672	133923844	8281	11897											
MUC2	4583	broad.mit.edu	37	11	1083767	1083767	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:1083767G>A	ENST00000441003.2	+	18	2326	c.2299G>A	c.(2299-2301)Gac>Aac	p.D767N	MUC2_ENST00000359061.5_Missense_Mutation_p.D767N	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	767						inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	GATCCACATGGACTGCAGCAA	0.701													5	22					0	0	1	0	0	A	1083767	G	A	1083767	3	1	81	1	0	0	0	0	1	0	0	0	10023	1174	41	2	2369	2	MUC2	11	1083767	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1095	1083767	133922749	8282	11898											
MUC2	4583	broad.mit.edu	37	11	1090362	1090362	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:1090362G>A	ENST00000441003.2	+	27	3685	c.3658G>A	c.(3658-3660)Gtc>Atc	p.V1220I	MUC2_ENST00000359061.5_Intron	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	1220						inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	CTCCCAAGTCGTCTGCAGGCC	0.657													5	8					0	0	1	0	0	A	1090362	G	A	1090362	3	1	81	1	0	0	0	0	1	0	0	0	10023	1145	40	1	3764	1	MUC2	11	1090362	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	6595	1090362	133916154	8283	11899											
MUC2	4583	broad.mit.edu	37	11	1099269	1099269	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:1099269G>A	ENST00000441003.2	+	38	7275	c.7248G>A	c.(7246-7248)acG>acA	p.T2416T		NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	4778						inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	AAGAGCCCACGTGCAAATCCA	0.617													15	45					0	0	1	0	0	A	1099269	G	A	1099269	2	1	81	1	0	0	0	0	0	0	0	1	10023	1132	40	1		1	MUC2	11	1099269	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	8907	1099269	133907247	8284	11900											
MUC5B	727897	broad.mit.edu	37	11	1268914	1268914	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:1268914C>T	ENST00000447027.1	+	31	10871	c.10813C>T	c.(10813-10815)Cgt>Tgt	p.R3605C	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000529681.1_Missense_Mutation_p.R3602C			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3602	7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398).	cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CTCCAACATCCGTGCGGCCGG	0.692													25	51					0	0	1	0	0	T	1268914	C	T	1268914	3	4	81	1	0	0	0	0	1	0	0	0	10027	652	23	1	10935	1	MUC5B	11	1268914	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	169645	1268914	133737602	8285	11901											
MUC5B	727897	broad.mit.edu	37	11	1269149	1269149	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:1269149C>T	ENST00000447027.1	+	31	11106	c.11048C>T	c.(11047-11049)aCg>aTg	p.T3683M	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000529681.1_Missense_Mutation_p.T3680M			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3680	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398).	cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		ACCAGCTCTACGGCCACGCCC	0.607													46	94					0	0	1	0	0	T	1269149	C	T	1269149	3	4	81	1	0	0	0	0	1	0	0	0	10027	536	19	1	11170	1	MUC5B	11	1269149	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	235	1269149	133737367	8286	11902											
MUC5B	727897	broad.mit.edu	37	11	1271361	1271361	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:1271361C>A	ENST00000447027.1	+	31	13318	c.13260C>A	c.(13258-13260)acC>acA	p.T4420T	MUC5B_ENST00000529681.1_Silent_p.T4417T			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4417	23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CCCCAGGGACCACCTGGATCC	0.657													8	133					0.00185496	0.00197056	1	1	0	A	1271361	C	A	1271361	2	1	81	1	0	0	0	0	0	0	0	1	10027	581	21	5		5	MUC5B	11	1271361	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2212	1271361	133735155	8287	11903											
MUC5B	727897	broad.mit.edu	37	11	1271537	1271537	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:1271537C>T	ENST00000447027.1	+	31	13494	c.13436C>T	c.(13435-13437)gCt>gTt	p.A4479V	MUC5B_ENST00000529681.1_Missense_Mutation_p.A4476V			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4476	23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CAGGCAACTGCTGGCACCCCA	0.657													36	55					0	0	1	0	0	T	1271537	C	T	1271537	3	4	81	1	0	0	0	0	1	0	0	0	10027	797	28	2	13558	2	MUC5B	11	1271537	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	176	1271537	133734979	8288	11904											
MUC5B	727897	broad.mit.edu	37	11	1272808	1272808	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:1272808G>A	ENST00000447027.1	+	31	14765	c.14707G>A	c.(14707-14709)Gtg>Atg	p.V4903M	MUC5B_ENST00000529681.1_Missense_Mutation_p.V4900M			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4900	Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CTCGTCCACCGTGGGGACCAC	0.652													9	18					0	0	1	0	0	A	1272808	G	A	1272808	3	1	81	1	0	0	0	0	1	0	0	0	10027	1145	40	1	14829	1	MUC5B	11	1272808	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1271	1272808	133733708	8289	11905											
MUC5B	727897	broad.mit.edu	37	11	1275507	1275507	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:1275507G>A	ENST00000447027.1	+	34	15470	c.15412G>A	c.(15412-15414)Gcc>Acc	p.A5138T	MUC5B_ENST00000529681.1_Missense_Mutation_p.A5135T			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	5135	VWFD 4.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CTGCCCCCGCGCCCTCAGCAT	0.622													23	21					0	0	1	0	0	A	1275507	G	A	1275507	3	1	81	1	0	0	0	0	1	0	0	0	10027	1087	38	1	15546	1	MUC5B	11	1275507	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2699	1275507	133731009	8290	11906											
MUC5B	727897	broad.mit.edu	37	11	1279402	1279402	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:1279402G>A	ENST00000447027.1	+	42	16591	c.16533G>A	c.(16531-16533)gaG>gaA	p.E5511E	MUC5B_ENST00000529681.1_Silent_p.E5508E			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	5508					cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GCACCCAGGAGGAGGGCGACT	0.697													3	5					0	0	1	0	0	A	1279402	G	A	1279402	2	1	81	1	0	0	0	0	0	0	0	1	10027	991	35	2		2	MUC5B	11	1279402	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	3895	1279402	133727114	8291	11907											
MUC5B	727897	broad.mit.edu	37	11	1281235	1281235	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:1281235G>A	ENST00000447027.1	+	46	16910	c.16852G>A	c.(16852-16854)Gtg>Atg	p.V5618M	MUC5B_ENST00000529681.1_Missense_Mutation_p.V5615M			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	5615					cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CAACTGCACCGTGTACCTCTG	0.577													35	60					0	0	1	0	0	A	1281235	G	A	1281235	3	1	81	1	0	0	0	0	1	0	0	0	10027	1145	40	1	17034	1	MUC5B	11	1281235	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1833	1281235	133725281	8292	11908											
BRSK2	9024	broad.mit.edu	37	11	1464847	1464847	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:1464847C>T	ENST00000308219.9	+	8	1148	c.762C>T	c.(760-762)gaC>gaT	p.D254D	BRSK2_ENST00000382179.1_Silent_p.D300D|BRSK2_ENST00000544817.1_5'UTR|BRSK2_ENST00000528710.1_Silent_p.D194D|BRSK2_ENST00000308230.5_Silent_p.D254D|BRSK2_ENST00000528841.1_Silent_p.D254D|BRSK2_ENST00000531197.1_Silent_p.D254D|BRSK2_ENST00000526678.1_Silent_p.D254D	NM_001256627.1|NM_003957.3	NP_001243556.1|NP_003948.2	Q8IWQ3	BRSK2_HUMAN	BR serine/threonine kinase 2	254	Protein kinase.				establishment of cell polarity|neuron differentiation		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			endometrium(4)|large_intestine(1)|lung(5)	10		all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00144)|Lung(200;0.0713)|LUSC - Lung squamous cell carcinoma(625;0.0842)		TCGAGGTGGACGCCGCACGCC	0.711													6	9					0	0	1	0	0	T	1464847	C	T	1464847	2	4	81	1	0	0	0	0	0	0	0	1	1526	535	19	1		1	BRSK2	11	1464847	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	183612	1464847	133541669	8293	11909											
KRTAP5-1	387264	broad.mit.edu	37	11	1605655	1605655	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:1605655C>T	ENST00000382171.2	-	1	858	c.825G>A	c.(823-825)caG>caA	p.Q275Q	KRTAP5-AS1_ENST00000424148.1_RNA|KRTAP5-AS1_ENST00000524947.1_RNA|KRTAP5-AS1_ENST00000532922.1_RNA|KRTAP5-AS1_ENST00000534077.1_RNA	NM_001005922.1	NP_001005922.1	Q6L8H4	KRA51_HUMAN	keratin associated protein 5-1	275						keratin filament				endometrium(3)|kidney(1)|lung(9)|skin(2)|upper_aerodigestive_tract(1)	16		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		AGATCTTGCACTGGCAGCACA	0.582													6	106					0	0	1	0	0	T	1605655	C	T	1605655	2	4	81	1	0	0	0	0	0	0	0	1	8598	564	20	2		2	KRTAP5-1	11	1605655	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	140808	1605655	133400861	8294	11910											
KRTAP5-2	440021	broad.mit.edu	37	11	1619040	1619040	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:1619040G>T	ENST00000412090.1	-	1	484	c.441C>A	c.(439-441)tgC>tgA	p.C147*	KRTAP5-AS1_ENST00000424148.1_RNA	NM_001004325.1	NP_001004325.1	Q701N4	KRA52_HUMAN	keratin associated protein 5-2	147	6 X 4 AA repeats of C-C-X-P.					keratin filament				large_intestine(1)|lung(2)|skin(1)	4		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		CGGGGACACAGCAGCTGGACT	0.607													21	81					4.26978e-12	5.32034e-12	1	1	0	T	1619040	G	T	1619040	4	4	81	1	0	0	0	0	0	1	0	0	8601	963	34	4	96	4	KRTAP5-2	11	1619040	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	13385	1619040	133387476	8295	11911											
KRTAP5-5	439915	broad.mit.edu	37	11	1651250	1651250	+	Silent	SNP	C	C	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:1651250C>G	ENST00000399676.2	+	1	218	c.180C>G	c.(178-180)tcC>tcG	p.S60S		NM_001001480.2	NP_001001480.2	Q701N2	KRA55_HUMAN	keratin associated protein 5-5	60						keratin filament				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1)	33		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		gatgtggctccggctgCTGTG	0.682													13	42					0	0	1	0	0	G	1651250	C	G	1651250	2	3	81	1	0	0	0	0	0	0	0	1	8603	639	23	5		5	KRTAP5-5	11	1651250	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	32210	1651250	133355266	8296	11912											
SYT8	90019	broad.mit.edu	37	11	1857227	1857227	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:1857227G>A	ENST00000535046.1	+	4	826	c.826G>A	c.(826-828)Gct>Act	p.A276T	SYT8_ENST00000341958.3_Intron|SYT8_ENST00000436964.2_Missense_Mutation_p.A124T|SYT8_ENST00000381968.3_Intron|SYT8_ENST00000483280.1_3'UTR			Q8NBV8	SYT8_HUMAN	synaptotagmin VIII	0	C2 2.					acrosomal vesicle|integral to membrane|plasma membrane|synaptic vesicle	transporter activity			breast(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	6		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		GAAGGGCCCCGCTGCGCAGGA	0.672													12	28					0	0	1	0	0	A	1857227	G	A	1857227	3	1	81	1	0	0	0	0	1	0	0	0	15537	1102	38	1		1	SYT8	11	1857227	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	205977	1857227	133149289	8297	11913											
TNNT3	7140	broad.mit.edu	37	11	1950364	1950364	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:1950364G>T	ENST00000278317.6	+	7	316	c.97G>T	c.(97-99)Gac>Tac	p.D33Y	TNNT3_ENST00000397304.2_Intron|TNNT3_ENST00000381561.4_Intron|TNNT3_ENST00000381579.3_Intron|TNNT3_ENST00000381558.1_Intron|TNNT3_ENST00000397301.1_Missense_Mutation_p.D44Y|TNNT3_ENST00000381548.3_Missense_Mutation_p.D35Y|TNNT3_ENST00000381549.3_Intron|TNNT3_ENST00000381589.3_Intron|TNNT3_ENST00000360603.3_Intron|TNNT3_ENST00000446240.1_Intron	NM_006757.3	NP_006748.1	P45378	TNNT3_HUMAN	troponin T type 3 (skeletal, fast)	44					muscle filament sliding|regulation of ATPase activity|regulation of striated muscle contraction|skeletal muscle contraction	cytosol|troponin complex	calcium-dependent protein binding|tropomyosin binding|troponin C binding|troponin I binding			breast(2)|endometrium(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(4)|stomach(1)	19		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00253)|Lung(200;0.0333)|LUSC - Lung squamous cell carcinoma(625;0.0826)		CGCAGAGGAGGACGCGGAAGG	0.667													7	113					0.00448238	0.00470627	1	1	0	T	1950364	G	T	1950364	3	4	81	1	0	0	0	0	1	0	0	0	16392	1174	41	5	160	5	TNNT3	11	1950364	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	93137	1950364	133056152	8298	11914											
IGF2	3481	broad.mit.edu	37	11	2154381	2154381	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:2154381G>A	ENST00000416167.2	-	4	1545	c.379C>T	c.(379-381)Cgc>Tgc	p.R127C	IGF2_ENST00000300632.5_Missense_Mutation_p.R127C|IGF2_ENST00000418738.2_Missense_Mutation_p.R127C|IGF2_ENST00000381395.1_Missense_Mutation_p.R127C|IGF2_ENST00000381406.4_Missense_Mutation_p.R130C|IGF2_ENST00000434045.2_Missense_Mutation_p.R183C|IGF2_ENST00000381389.1_Missense_Mutation_p.R127C|IGF2_ENST00000381392.1_Missense_Mutation_p.R130C			P01344	IGF2_HUMAN	insulin-like growth factor 2 (somatomedin A)	127					glucose metabolic process|ossification|phosphatidylinositol 3-kinase cascade involved in insulin receptor signaling|positive regulation of activated T cell proliferation|positive regulation of cell division|positive regulation of glycogen (starch) synthase activity|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|skeletal system development	extracellular space	growth factor activity|hormone activity|insulin receptor binding|insulin-like growth factor receptor binding|protein serine/threonine kinase activator activity|receptor activator activity			central_nervous_system(1)|kidney(1)|lung(1)|pancreas(1)|skin(1)|urinary_tract(1)	6		all_epithelial(84;5.04e-06)|Breast(177;0.000777)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)	Colorectal(5;0.0179)|COAD - Colon adenocarcinoma(6;0.029)	BRCA - Breast invasive adenocarcinoma(625;1.09e-05)|LUSC - Lung squamous cell carcinoma(625;0.082)|Lung(200;0.153)		AGGCCCCTGCGCAGGCGCTGG	0.662													11	14					0	0	1	0	0	A	2154381	G	A	2154381	3	1	81	1	0	0	0	0	1	0	0	0	7616	1087	38	1	167	1	IGF2	11	2154381	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	204017	2154381	132852135	8299	11915											
IGF2	3481	broad.mit.edu	37	11	2161436	2161436	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:2161436T>C	ENST00000434045.2	-	2	475	c.91A>G	c.(91-93)Att>Gtt	p.I31V	IGF2_ENST00000300632.5_Intron|IGF2_ENST00000381389.1_Intron	NM_001127598.1	NP_001121070.1	P01344	IGF2_HUMAN	insulin-like growth factor 2 (somatomedin A)	0	B.				glucose metabolic process|ossification|phosphatidylinositol 3-kinase cascade involved in insulin receptor signaling|positive regulation of activated T cell proliferation|positive regulation of cell division|positive regulation of glycogen (starch) synthase activity|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|skeletal system development	extracellular space	growth factor activity|hormone activity|insulin receptor binding|insulin-like growth factor receptor binding|protein serine/threonine kinase activator activity|receptor activator activity			central_nervous_system(1)|kidney(1)|lung(1)|pancreas(1)|skin(1)|urinary_tract(1)	6		all_epithelial(84;5.04e-06)|Breast(177;0.000777)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)	Colorectal(5;0.0179)|COAD - Colon adenocarcinoma(6;0.029)	BRCA - Breast invasive adenocarcinoma(625;1.09e-05)|LUSC - Lung squamous cell carcinoma(625;0.082)|Lung(200;0.153)		ATCTGGATAATGGTTACCCCG	0.577													6	56					0	0	1	0	0	C	2161436	T	C	2161436	3	2	81	1	0	0	0	0	1	0	0	0	7616	1464	51	3	635	3	IGF2	11	2161436	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	7055	2161436	132845080	8300	11916											
TH	7054	broad.mit.edu	37	11	2185527	2185527	+	Missense_Mutation	SNP	C	C	T	rs78426052		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:2185527C>T	ENST00000381178.1	-	14	1541	c.1523G>A	c.(1522-1524)cGc>cAc	p.R508H	TH_ENST00000381175.1_Missense_Mutation_p.R504H|TH_ENST00000352909.3_Missense_Mutation_p.R477H|TH_ENST00000333684.5_Missense_Mutation_p.R387H	NM_199292.2	NP_954986.2	P07101	TY3H_HUMAN	tyrosine hydroxylase	508					dopamine biosynthetic process from tyrosine|embryonic camera-type eye morphogenesis|epinephrine biosynthetic process|eye photoreceptor cell development|heart morphogenesis|hormone biosynthetic process|learning|locomotory behavior|memory|neurotransmitter biosynthetic process|neurotransmitter secretion|norepinephrine biosynthetic process|pigmentation|regulation of heart contraction|response to ethanol|response to hypoxia|synaptic transmission, dopaminergic|visual perception	cytosol|internal side of plasma membrane|melanosome membrane|nucleus|perikaryon|smooth endoplasmic reticulum	protein binding|tyrosine 3-monooxygenase activity			NS(1)|endometrium(1)|large_intestine(1)|lung(7)|skin(1)	11		all_epithelial(84;1.46e-23)|Lung NSC(207;4.44e-11)|all_lung(207;1.11e-09)|Ovarian(85;1.78e-06)|Breast(177;1.78e-05)|Medulloblastoma(188;0.0208)|all_neural(188;0.0416)	Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239)	BRCA - Breast invasive adenocarcinoma(625;8.45e-09)|Lung(200;0.000152)|LUSC - Lung squamous cell carcinoma(625;0.00154)	L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Metyrosine(DB00765)|Tetrahydrobiopterin(DB00360)	CTCCAGGGAGCGCCGCACGGC	0.672													26	18					0	0	1	0	0	T	2185527	C	T	2185527	3	4	81	1	0	0	0	0	1	0	0	0	15898	768	27	1	67	1	TH	11	2185527	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	24091	2185527	132820989	8301	11917											
TSPAN32	10077	broad.mit.edu	37	11	2324157	2324157	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:2324157G>T	ENST00000182290.4	+	2	287	c.150G>T	c.(148-150)gaG>gaT	p.E50D	TSPAN32_ENST00000451520.2_Missense_Mutation_p.E39D|TSPAN32_ENST00000483227.1_3'UTR|TSPAN32_ENST00000381121.3_Missense_Mutation_p.E50D	NM_139022.2	NP_620591.3	Q96QS1	TSN32_HUMAN	tetraspanin 32	50					cell-cell signaling	integral to membrane				breast(1)|central_nervous_system(1)|lung(4)|ovary(1)|skin(1)	8		all_epithelial(84;4.89e-05)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.00791)|Lung NSC(207;0.209)		BRCA - Breast invasive adenocarcinoma(625;0.000533)|LUSC - Lung squamous cell carcinoma(625;0.082)|Lung(200;0.153)		CGTCCCTGGAGAAGAACCCGT	0.642													8	41					0.00621372	0.00649472	1	1	0	T	2324157	G	T	2324157	3	4	81	1	0	0	0	0	1	0	0	0	16708	933	33	4	156	4	TSPAN32	11	2324157	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	138630	2324157	132682359	8302	11918											
TSPAN32	10077	broad.mit.edu	37	11	2334930	2334930	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:2334930C>T	ENST00000182290.4	+	5	538	c.401C>T	c.(400-402)gCg>gTg	p.A134V	TSPAN32_ENST00000451520.2_Missense_Mutation_p.A123V|TSPAN32_ENST00000483227.1_3'UTR|TSPAN32_ENST00000381121.3_Missense_Mutation_p.A134V	NM_139022.2	NP_620591.3	Q96QS1	TSN32_HUMAN	tetraspanin 32	134					cell-cell signaling	integral to membrane				breast(1)|central_nervous_system(1)|lung(4)|ovary(1)|skin(1)	8		all_epithelial(84;4.89e-05)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.00791)|Lung NSC(207;0.209)		BRCA - Breast invasive adenocarcinoma(625;0.000533)|LUSC - Lung squamous cell carcinoma(625;0.082)|Lung(200;0.153)		TATGAGCAGGCGATGAAAGGT	0.662													3	5					0	0	1	0	0	T	2334930	C	T	2334930	3	4	81	1	0	0	0	0	1	0	0	0	16708	768	27	1	419	1	TSPAN32	11	2334930	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	10773	2334930	132671586	8303	11919											
CD81	975	broad.mit.edu	37	11	2411695	2411695	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:2411695G>T	ENST00000263645.5	+	2	376	c.120G>T	c.(118-120)caG>caT	p.Q40H	CD81_ENST00000524805.1_3'UTR|CD81_ENST00000526072.1_5'UTR|CD81_ENST00000492627.1_5'UTR|CD81_ENST00000381036.3_Missense_Mutation_p.Q78H	NM_004356.3	NP_004347.1	P60033	CD81_HUMAN	CD81 molecule	40					activation of MAPK activity|cell proliferation|phosphatidylinositol biosynthetic process|positive regulation of 1-phosphatidylinositol 4-kinase activity|positive regulation of cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|protein localization|regulation of immune response|virion attachment, binding of host cell surface receptor	integral to plasma membrane	protein binding			endometrium(1)|lung(3)|skin(1)	5		all_epithelial(84;0.000161)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.0137)|Lung NSC(207;0.209)		BRCA - Breast invasive adenocarcinoma(625;0.000338)|LUSC - Lung squamous cell carcinoma(625;0.191)		ATGACCCGCAGACCACCAACC	0.617													10	97					1.58986e-06	1.82794e-06	1	1	0	T	2411695	G	T	2411695	3	4	81	1	0	0	0	0	1	0	0	0	3061	933	33	4	126	4	CD81	11	2411695	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	76765	2411695	132594821	8304	11920											
TRPM5	29850	broad.mit.edu	37	11	2427272	2427272	+	Missense_Mutation	SNP	G	G	A	rs142372288	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:2427272G>A	ENST00000452833.1	-	22	3315	c.3307C>T	c.(3307-3309)Cgc>Tgc	p.R1103C	AC124057.5_ENST00000433035.1_RNA|TRPM5_ENST00000533060.1_Missense_Mutation_p.R1109C|TRPM5_ENST00000528453.1_Missense_Mutation_p.R1101C|TRPM5_ENST00000155858.6_Missense_Mutation_p.R1101C			Q9NZQ8	TRPM5_HUMAN	transient receptor potential cation channel, subfamily M, member 5	1101						integral to membrane|plasma membrane	receptor activity|voltage-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(4)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	23		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)		CACTTGATGCGCTTTTCTTGC	0.637													7	19					0	0	1	0	0	A	2427272	G	A	2427272	3	1	81	1	0	0	0	0	1	0	0	0	16650	1087	38	1	208	1	TRPM5	11	2427272	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	15577	2427272	132579244	8305	11921											
SLC22A18	5002	broad.mit.edu	37	11	2937892	2937892	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:2937892C>A	ENST00000380574.1	+	6	1008	c.577C>A	c.(577-579)Ctg>Atg	p.L193M	SLC22A18_ENST00000449793.2_Missense_Mutation_p.L95M|SLC22A18_ENST00000347936.2_Missense_Mutation_p.L193M|SLC22A18_ENST00000312221.5_Missense_Mutation_p.L193M			Q96BI1	S22AI_HUMAN	solute carrier family 22, member 18	193					excretion|organic cation transport	apical plasma membrane|cytoplasmic part|integral to membrane|nuclear envelope	drug:hydrogen antiporter activity|symporter activity|ubiquitin protein ligase binding			central_nervous_system(2)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	8		all_epithelial(84;0.000124)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)|all_lung(207;0.198)		BRCA - Breast invasive adenocarcinoma(625;0.00256)|LUSC - Lung squamous cell carcinoma(625;0.192)		GGCCACCCTCCTGGGAGCTGT	0.697													19	31					0.00121646	0.00129402	1	1	0	A	2937892	C	A	2937892	3	1	81	1	0	0	0	0	1	0	0	0	14504	680	24	4	595	4	SLC22A18	11	2937892	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	510620	2937892	132068624	8306	11922											
NAP1L4	4676	broad.mit.edu	37	11	2981014	2981014	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:2981014A>C	ENST00000380542.4	-	9	872	c.732T>G	c.(730-732)atT>atG	p.I244M	NAP1L4_ENST00000526115.1_Missense_Mutation_p.I244M	NM_005969.3	NP_005960.1	Q99733	NP1L4_HUMAN	nucleosome assembly protein 1-like 4	244					nucleosome assembly	chromatin assembly complex|cytoplasm	unfolded protein binding			endometrium(2)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)	13		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00301)|LUSC - Lung squamous cell carcinoma(625;0.211)		CACAGTCCACAATCTCAGGAC	0.373													18	46					0	0	1	0	0	C	2981014	A	C	2981014	3	2	81	1	0	0	0	0	1	0	0	0	10207	126	5	5	423	5	NAP1L4	11	2981014	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	43122	2981014	132025502	8307	11923											
ART5	116969	broad.mit.edu	37	11	3660958	3660958	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:3660958C>A	ENST00000397068.3	-	2	1093	c.701G>T	c.(700-702)aGa>aTa	p.R234I	ART5_ENST00000397067.3_Intron|ART5_ENST00000359918.4_Missense_Mutation_p.R234I	NM_053017.3	NP_443750.2	Q96L15	NAR5_HUMAN	ADP-ribosyltransferase 5	234						extracellular region	NAD(P)+-protein-arginine ADP-ribosyltransferase activity			breast(1)|central_nervous_system(1)|large_intestine(2)|lung(6)|ovary(1)	11		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0336)|LUSC - Lung squamous cell carcinoma(625;0.19)		CTGAGAGAATCTGGTAACCAA	0.512													11	122					0.00010058	0.000110448	1	1	0	A	3660958	C	A	3660958	3	1	81	1	0	0	0	0	1	0	0	0	999	913	32	4	186	4	ART5	11	3660958	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	679944	3660958	131345558	8308	11924											
ART1	417	broad.mit.edu	37	11	3681427	3681427	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:3681427G>A	ENST00000250693.1	+	3	779	c.678G>A	c.(676-678)ggG>ggA	p.G226G		NM_004314.2	NP_004305.2	P52961	NAR1_HUMAN	ADP-ribosyltransferase 1	226					protein ADP-ribosylation	anchored to membrane|integral to plasma membrane|sarcoplasmic reticulum membrane	NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity			endometrium(1)|large_intestine(2)|liver(1)|lung(3)|skin(1)	8		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0351)|LUSC - Lung squamous cell carcinoma(625;0.195)	Becaplermin(DB00102)	CCTGCCTTGGGGCCCCTATCA	0.597													19	16					0	0	1	0	0	A	3681427	G	A	3681427	2	1	81	1	0	0	0	0	0	0	0	1	996	1219	43	2		2	ART1	11	3681427	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	20469	3681427	131325089	8309	11925											
ART1	417	broad.mit.edu	37	11	3681528	3681528	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:3681528G>A	ENST00000250693.1	+	3	880	c.779G>A	c.(778-780)gGc>gAc	p.G260D		NM_004314.2	NP_004305.2	P52961	NAR1_HUMAN	ADP-ribosyltransferase 1	260					protein ADP-ribosylation	anchored to membrane|integral to plasma membrane|sarcoplasmic reticulum membrane	NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity			endometrium(1)|large_intestine(2)|liver(1)|lung(3)|skin(1)	8		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0351)|LUSC - Lung squamous cell carcinoma(625;0.195)	Becaplermin(DB00102)	CTGGCCCAGGGCCCCGCCCGC	0.612													22	35					0	0	1	0	0	A	3681528	G	A	3681528	3	1	81	1	0	0	0	0	1	0	0	0	996	1203	42	2	785	2	ART1	11	3681528	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	101	3681528	131324988	8310	11926											
NUP98	4928	broad.mit.edu	37	11	3697536	3697536	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:3697536G>A	ENST00000324932.7	-	33	5676	c.5256C>T	c.(5254-5256)tcC>tcT	p.S1752S	NUP98_ENST00000355260.3_Silent_p.S1678S|NUP98_ENST00000359171.4_3'UTR	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN	nucleoporin 98kDa	1769					carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex	protein binding|structural constituent of nuclear pore|transporter activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		GTGTTGAGTCGGAGGTTCTAT	0.562			T	"HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"	AML								38	66					0	0	1	0	0	A	3697536	G	A	3697536	2	1	81	1	0	0	0	0	0	0	0	1	10821	1103	39	1		1	NUP98	11	3697536	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	16008	3697536	131308980	8311	11927											
NUP98	4928	broad.mit.edu	37	11	3704480	3704480	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:3704480G>A	ENST00000324932.7	-	30	5288	c.4868C>T	c.(4867-4869)gCt>gTt	p.A1623V	NUP98_ENST00000355260.3_Missense_Mutation_p.A1549V|NUP98_ENST00000359171.4_Missense_Mutation_p.A1549V	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN	nucleoporin 98kDa	1640					carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex	protein binding|structural constituent of nuclear pore|transporter activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		CCAGTGCTCAGCCTTAAATAA	0.527			T	"HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"	AML								17	31					0	0	1	0	0	A	3704480	G	A	3704480	3	1	81	1	0	0	0	0	1	0	0	0	10821	971	34	2	550	2	NUP98	11	3704480	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	6944	3704480	131302036	8312	11928											
NUP98	4928	broad.mit.edu	37	11	3720329	3720329	+	Missense_Mutation	SNP	G	G	T	rs144357388		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:3720329G>T	ENST00000324932.7	-	25	4412	c.3992C>A	c.(3991-3993)tCt>tAt	p.S1331Y	NUP98_ENST00000355260.3_Missense_Mutation_p.S1331Y|NUP98_ENST00000359171.4_Missense_Mutation_p.S1331Y	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN	nucleoporin 98kDa	1348					carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex	protein binding|structural constituent of nuclear pore|transporter activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		CTGGGCCAGAGAGCAGGCCTC	0.542			T	"HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"	AML								7	199					2.7689e-08	3.2887e-08	1	1	0	T	3720329	G	T	3720329	3	4	81	1	0	0	0	0	1	0	0	0	10821	942	33	4	1446	4	NUP98	11	3720329	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	15849	3720329	131286187	8313	11929											
NUP98	4928	broad.mit.edu	37	11	3789871	3789871	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:3789871C>A	ENST00000324932.7	-	8	1308	c.888G>T	c.(886-888)caG>caT	p.Q296H	NUP98_ENST00000397004.4_Missense_Mutation_p.Q296H|NUP98_ENST00000355260.3_Missense_Mutation_p.Q296H|NUP98_ENST00000397007.4_Missense_Mutation_p.Q296H|NUP98_ENST00000359171.4_Missense_Mutation_p.Q296H	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN	nucleoporin 98kDa	296	Gly/Thr-rich.				carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex	protein binding|structural constituent of nuclear pore|transporter activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		AGCCAGTGTTCTGGGTGGTTG	0.473			T	"HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"	AML								10	128					0.010729	0.0111384	1	1	0	A	3789871	C	A	3789871	3	1	81	1	0	0	0	0	1	0	0	0	10821	912	32	4	4690	4	NUP98	11	3789871	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	69542	3789871	131216645	8314	11930											
STIM1	6786	broad.mit.edu	37	11	3988848	3988848	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:3988848G>A	ENST00000300737.4	+	2	775	c.206G>A	c.(205-207)cGt>cAt	p.R69H	STIM1_ENST00000527651.1_Missense_Mutation_p.R69H	NM_003156.3	NP_003147.2	Q13586	STIM1_HUMAN	stromal interaction molecule 1	69	EF-hand.				activation of store-operated calcium channel activity|calcium ion transport|detection of calcium ion|platelet activation	integral to endoplasmic reticulum membrane|integral to plasma membrane|microtubule	calcium ion binding|microtubule plus-end binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|liver(1)|lung(14)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30		Breast(177;0.00159)|Medulloblastoma(188;0.00258)|all_neural(188;0.0233)		BRCA - Breast invasive adenocarcinoma(625;0.114)|LUSC - Lung squamous cell carcinoma(625;0.141)		GAGGCAGTCCGTAACATCCAC	0.458													35	49					0	0	1	0	0	A	3988848	G	A	3988848	3	1	81	1	0	0	0	0	1	0	0	0	15339	1145	40	1	212	1	STIM1	11	3988848	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	198977	3988848	131017668	8315	11931											
RRM1	6240	broad.mit.edu	37	11	4123242	4123242	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:4123242C>T	ENST00000300738.5	+	2	243	c.39C>T	c.(37-39)gtC>gtT	p.V13V	RRM1_ENST00000423050.2_5'UTR	NM_001033.3	NP_001024.1	P23921	RIR1_HUMAN	ribonucleotide reductase M1	13	ATP-cone.|Allosteric activator binding (By similarity).				deoxyribonucleotide biosynthetic process|DNA replication|nucleobase, nucleoside and nucleotide interconversion	cytosol|nucleoplasm|ribonucleoside-diphosphate reductase complex	ATP binding|ribonucleoside-diphosphate reductase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2)	14		Medulloblastoma(188;0.0025)|Breast(177;0.00502)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0848)|LUSC - Lung squamous cell carcinoma(625;0.205)	Clofarabine(DB00631)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Hydroxyurea(DB01005)	AAGAACGAGTCATGTTTGACA	0.318													5	62					0	0	1	0	0	T	4123242	C	T	4123242	2	4	81	1	0	0	0	0	0	0	0	1	13733	813	29	2		2	RRM1	11	4123242	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	134394	4123242	130883274	8316	11932											
RRM1	6240	broad.mit.edu	37	11	4148305	4148305	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:4148305G>A	ENST00000300738.5	+	14	1715	c.1511G>A	c.(1510-1512)gGg>gAg	p.G504E	RRM1_ENST00000534285.1_Missense_Mutation_p.G282E|RRM1_ENST00000423050.2_Missense_Mutation_p.G407E|RRM1_ENST00000537197.1_Missense_Mutation_p.G166E	NM_001033.3	NP_001024.1	P23921	RIR1_HUMAN	ribonucleotide reductase M1	504					deoxyribonucleotide biosynthetic process|DNA replication|nucleobase, nucleoside and nucleotide interconversion	cytosol|nucleoplasm|ribonucleoside-diphosphate reductase complex	ATP binding|ribonucleoside-diphosphate reductase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2)	14		Medulloblastoma(188;0.0025)|Breast(177;0.00502)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0848)|LUSC - Lung squamous cell carcinoma(625;0.205)	Clofarabine(DB00631)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Hydroxyurea(DB01005)	ATTGGAATTGGGGTACAAGGT	0.388													33	61					0	0	1	0	0	A	4148305	G	A	4148305	3	1	81	1	0	0	0	0	1	0	0	0	13733	1232	43	2	1565	2	RRM1	11	4148305	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	25063	4148305	130858211	8317	11933											
RRM1	6240	broad.mit.edu	37	11	4148393	4148393	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:4148393A>C	ENST00000300738.5	+	14	1803	c.1599A>C	c.(1597-1599)gaA>gaC	p.E533D	RRM1_ENST00000534285.1_Missense_Mutation_p.E311D|RRM1_ENST00000423050.2_Missense_Mutation_p.E436D|RRM1_ENST00000537197.1_Missense_Mutation_p.E195D	NM_001033.3	NP_001024.1	P23921	RIR1_HUMAN	ribonucleotide reductase M1	533					deoxyribonucleotide biosynthetic process|DNA replication|nucleobase, nucleoside and nucleotide interconversion	cytosol|nucleoplasm|ribonucleoside-diphosphate reductase complex	ATP binding|ribonucleoside-diphosphate reductase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2)	14		Medulloblastoma(188;0.0025)|Breast(177;0.00502)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0848)|LUSC - Lung squamous cell carcinoma(625;0.205)	Clofarabine(DB00631)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Hydroxyurea(DB01005)	AGATCTTTGAAACTATTTATT	0.463													38	46					0	0	1	0	0	C	4148393	A	C	4148393	3	2	81	1	0	0	0	0	1	0	0	0	13733	11	1	5	1653	5	RRM1	11	4148393	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	88	4148393	130858123	8318	11934											
TRIM21	6737	broad.mit.edu	37	11	4411432	4411432	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:4411432C>T	ENST00000254436.7	-	2	320	c.208G>A	c.(208-210)Gcc>Acc	p.A70T	TRIM21_ENST00000543625.1_Missense_Mutation_p.A70T	NM_003141.3	NP_003132.2	P19474	RO52_HUMAN	tripartite motif containing 21	70					cell cycle|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein deubiquitination|positive regulation of cell cycle|protein autoubiquitination|protein destabilization|protein monoubiquitination|protein polyubiquitination|protein trimerization	cytoplasmic mRNA processing body|nucleus	DNA binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)	16		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;2.08e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0851)|LUSC - Lung squamous cell carcinoma(625;0.194)		ACCATGTTGGCTAGCTGTCGA	0.567													34	41					0	0	1	0	0	T	4411432	C	T	4411432	3	4	81	1	0	0	0	0	1	0	0	0	16556	797	28	2	1243	2	TRIM21	11	4411432	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	263039	4411432	130595084	8319	11935											
OR51D1	390038	broad.mit.edu	37	11	4661550	4661550	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:4661550A>G	ENST00000357605.2	+	1	606	c.530A>G	c.(529-531)aAg>aGg	p.K177R		NM_001004751.2	NP_001004751.1	Q8NGF3	O51D1_HUMAN	olfactory receptor, family 51, subfamily D, member 1	177					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|liver(2)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	27		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;2.74e-13)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|GBM - Glioblastoma multiforme(2;0.0841)|LUSC - Lung squamous cell carcinoma(625;0.19)		TTCATCCTCAAGTGGTTGTCC	0.502													6	144					0	0	1	0	0	G	4661550	A	G	4661550	3	3	81	1	0	0	0	0	1	0	0	0	11141	72	3	3	532	3	OR51D1	11	4661550	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	250118	4661550	130344966	8320	11936											
OR51E1	143503	broad.mit.edu	37	11	4674065	4674065	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:4674065G>T	ENST00000396952.5	+	2	959	c.309G>T	c.(307-309)caG>caT	p.Q103H	OR51E1_ENST00000530215.1_Intron	NM_152430.3	NP_689643.2	Q8TCB6	O51E1_HUMAN	olfactory receptor, family 51, subfamily E, member 1	102					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|skin(1)|stomach(2)	30		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;7.37e-14)|GBM - Glioblastoma multiforme(2;2.85e-05)|BRCA - Breast invasive adenocarcinoma(625;0.00222)|LUSC - Lung squamous cell carcinoma(625;0.19)		GTCTGCTACAGATGTTTGCCA	0.517													6	49					0.00116845	0.00124301	1	1	0	T	4674065	G	T	4674065	3	4	81	1	0	0	0	0	1	0	0	0	11142	933	33	4	311	4	OR51E1	11	4674065	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	12515	4674065	130332451	8321	11937											
OR51E2	81285	broad.mit.edu	37	11	4703653	4703653	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:4703653G>T	ENST00000396950.3	-	2	528	c.289C>A	c.(289-291)Ctt>Att	p.L97I		NM_030774.3	NP_110401.1	Q9H255	O51E2_HUMAN	olfactory receptor, family 51, subfamily E, member 2	97					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(3)	23		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;3e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00476)|LUSC - Lung squamous cell carcinoma(625;0.2)		ATCTGGGTAAGACAGGCCTCA	0.517													5	35					1.23904e-05	1.39156e-05	1	1	0	T	4703653	G	T	4703653	3	4	81	1	0	0	0	0	1	0	0	0	11143	942	33	4	677	4	OR51E2	11	4703653	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	29588	4703653	130302863	8322	11938											
OR51F1	256892	broad.mit.edu	37	11	4790544	4790544	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:4790544A>C	ENST00000380383.1	-	1	624	c.625T>G	c.(625-627)Tta>Gta	p.L209V	MMP26_ENST00000380390.1_Intron|OR51F1_ENST00000343430.3_Missense_Mutation_p.L202V|MMP26_ENST00000477339.1_Intron			A6NLW9	A6NLW9_HUMAN	olfactory receptor, family 51, subfamily F, member 1	202						integral to membrane	olfactory receptor activity			kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.87e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0045)|LUSC - Lung squamous cell carcinoma(625;0.192)		AGATCAATTAATCCACAGATG	0.398													63	65					0	0	1	0	0	C	4790544	A	C	4790544	3	2	81	1	0	0	0	0	1	0	0	0	11144	98	4	4	337	4	OR51F1	11	4790544	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	86891	4790544	130215972	8323	11939											
OR52R1	119695	broad.mit.edu	37	11	4825600	4825600	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:4825600G>A	ENST00000380382.1	-	1	247	c.248C>T	c.(247-249)gCt>gTt	p.A83V	MMP26_ENST00000380390.1_Intron|OR52R1_ENST00000356069.2_Missense_Mutation_p.A4V|MMP26_ENST00000477339.1_Intron			Q8NGF1	O52R1_HUMAN	olfactory receptor, family 52, subfamily R, member 1	4					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|prostate(1)|skin(3)	29		Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		GTTCCCTGAAGCCAGCACCAT	0.468													39	49					0	0	1	0	0	A	4825600	G	A	4825600	3	1	81	1	0	0	0	0	1	0	0	0	11179	971	34	2	939	2	OR52R1	11	4825600	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	35056	4825600	130180916	8324	11940											
OR51F2	119694	broad.mit.edu	37	11	4842974	4842974	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:4842974G>T	ENST00000322110.5	+	1	424	c.359G>T	c.(358-360)gGa>gTa	p.G120V	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001004753.1	NP_001004753.1	Q8NH61	O51F2_HUMAN	olfactory receptor, family 51, subfamily F, member 2	120					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		TTTCTACACGGATTTACTTTC	0.468													12	147					7.03913e-09	8.42519e-09	1	1	0	T	4842974	G	T	4842974	3	4	81	1	0	0	0	0	1	0	0	0	11145	1174	41	5	361	5	OR51F2	11	4842974	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	17374	4842974	130163542	8325	11941											
OR51F2	119694	broad.mit.edu	37	11	4843361	4843361	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:4843361G>A	ENST00000322110.5	+	1	811	c.746G>A	c.(745-747)cGg>cAg	p.R249Q	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001004753.1	NP_001004753.1	Q8NH61	O51F2_HUMAN	olfactory receptor, family 51, subfamily F, member 2	249					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		GAAGAGAGGCGGAAAGCCTTC	0.502													24	38					0	0	1	0	0	A	4843361	G	A	4843361	3	1	81	1	0	0	0	0	1	0	0	0	11145	1116	39	1	748	1	OR51F2	11	4843361	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	387	4843361	130163155	8326	11942											
OR51T1	401665	broad.mit.edu	37	11	4904038	4904038	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:4904038G>T	ENST00000380378.1	+	1	990	c.990G>T	c.(988-990)caG>caT	p.Q330H	MMP26_ENST00000380390.1_Intron|OR51T1_ENST00000322049.1_Missense_Mutation_p.Q303H|MMP26_ENST00000477339.1_Intron	NM_001004759.1	NP_001004759.1	Q8NGJ9	O51T1_HUMAN	olfactory receptor, family 51, subfamily T, member 1	303					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		CAATCCGCCAGGCTATGTTCC	0.483													5	69					4.096e-09	4.9227e-09	1	1	0	T	4904038	G	T	4904038	3	4	81	1	0	0	0	0	1	0	0	0	11154	991	35	4	992	4	OR51T1	11	4904038	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	60677	4904038	130102478	8327	11943											
OR51G2	81282	broad.mit.edu	37	11	4936683	4936683	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:4936683G>T	ENST00000322013.3	-	1	239	c.211C>A	c.(211-213)Ctg>Atg	p.L71M	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001005238.1	NP_001005238.1	Q8NGK0	O51G2_HUMAN	olfactory receptor, family 51, subfamily G, member 2	71					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|large_intestine(9)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		ATCAGAGCCAGCATGGACAGG	0.478													12	32					2.80697e-09	3.37799e-09	1	1	0	T	4936683	G	T	4936683	3	4	81	1	0	0	0	0	1	0	0	0	11147	962	34	4	737	4	OR51G2	11	4936683	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	32645	4936683	130069833	8328	11944											
OR51A4	401666	broad.mit.edu	37	11	4967870	4967870	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:4967870C>T	ENST00000380373.2	-	1	486	c.461G>A	c.(460-462)aGc>aAc	p.S154N	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001005329.1	NP_001005329.1	Q8NGJ6	O51A4_HUMAN	olfactory receptor, family 51, subfamily A, member 4	154					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|lung(15)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		CAGGAGCATGCTCTTAAAGGA	0.423													87	222					0	0	1	0	0	T	4967870	C	T	4967870	3	4	81	1	0	0	0	0	1	0	0	0	11135	797	28	2	482	2	OR51A4	11	4967870	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	31187	4967870	130038646	8329	11945											
OR52E2	119678	broad.mit.edu	37	11	5080059	5080059	+	Nonsense_Mutation	SNP	G	G	A	rs146178299		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:5080059G>A	ENST00000321522.2	-	1	798	c.799C>T	c.(799-801)Cga>Tga	p.R267*		NM_001005164.2	NP_001005164.2	Q8NGJ4	O52E2_HUMAN	olfactory receptor, family 52, subfamily E, member 2	267					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|lung(13)|ovary(2)|skin(3)	20		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.03e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.191)		GGCACATTTCGGCCAAAGCGA	0.473													30	17					0	0	1	0	0	A	5080059	G	A	5080059	4	1	81	1	0	0	0	0	0	1	0	0	11163	1124	39	1	181	1	OR52E2	11	5080059	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	112189	5080059	129926457	8330	11946											
OR52E2	119678	broad.mit.edu	37	11	5080122	5080122	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:5080122C>T	ENST00000321522.2	-	1	735	c.736G>A	c.(736-738)Gtg>Atg	p.V246M		NM_001005164.2	NP_001005164.2	Q8NGJ4	O52E2_HUMAN	olfactory receptor, family 52, subfamily E, member 2	246					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|lung(13)|ovary(2)|skin(3)	20		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.03e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.191)		ATTACACACACATGTGAACCA	0.463													5	35					0	0	1	0	0	T	5080122	C	T	5080122	3	4	81	1	0	0	0	0	1	0	0	0	11163	478	17	2	244	2	OR52E2	11	5080122	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	63	5080122	129926394	8331	11947											
OR52A5	390054	broad.mit.edu	37	11	5153502	5153502	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:5153502C>T	ENST00000307388.1	-	1	370	c.371G>A	c.(370-372)cGc>cAc	p.R124H		NM_001005160.2	NP_001005160.1	Q9H2C5	O52A5_HUMAN	olfactory receptor, family 52, subfamily A, member 5	124					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(18)|skin(3)	35		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)		GGCCACATAGCGATCCAGGGC	0.468													15	21					0	0	1	0	0	T	5153502	C	T	5153502	3	4	81	1	0	0	0	0	1	0	0	0	11158	768	27	1	582	1	OR52A5	11	5153502	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	73380	5153502	129853014	8332	11948											
OR51B6	390058	broad.mit.edu	37	11	5373625	5373625	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:5373625G>T	ENST00000380219.1	+	1	888	c.888G>T	c.(886-888)caG>caT	p.Q296H	AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron	NM_001004750.1	NP_001004750.1	Q9H340	O51B6_HUMAN	olfactory receptor, family 51, subfamily B, member 6	296					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	21		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AAACTAAGCAGATTCAGAGTG	0.418													6	113					0.00198382	0.00209725	1	1	0	T	5373625	G	T	5373625	3	4	81	1	0	0	0	0	1	0	0	0	11140	933	33	4	890	4	OR51B6	11	5373625	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	220123	5373625	129632891	8333	11949											
OR51M1	390059	broad.mit.edu	37	11	5410781	5410781	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:5410781C>A	ENST00000328611.3	+	1	175	c.153C>A	c.(151-153)atC>atA	p.I51I	AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron	NM_001004756.2	NP_001004756.2	B2RNI9	B2RNI9_HUMAN	olfactory receptor, family 51, subfamily M, member 1	51						integral to membrane	olfactory receptor activity			NS(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|upper_aerodigestive_tract(1)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGGTTGCCATCTCAGGCAATT	0.453													7	117					0.000157383	0.000171784	1	1	0	A	5410781	C	A	5410781	2	1	81	1	0	0	0	0	0	0	0	1	11151	903	32	4		4	OR51M1	11	5410781	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	37156	5410781	129595735	8334	11950											
OR51I2	390064	broad.mit.edu	37	11	5474999	5474999	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:5474999T>C	ENST00000341449.2	+	1	362	c.281T>C	c.(280-282)tTt>tCt	p.F94S	AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron	NM_001004754.2	NP_001004754.1	Q9H344	O51I2_HUMAN	olfactory receptor, family 51, subfamily I, member 2	94					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.09e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AACATCACTTTTGATGCCTGT	0.468													4	104					0	0	1	0	0	C	5474999	T	C	5474999	3	2	81	1	0	0	0	0	1	0	0	0	11149	1841	64	3	283	3	OR51I2	11	5474999	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	64218	5474999	129531517	8335	11951											
OR52D1	390066	broad.mit.edu	37	11	5510000	5510000	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:5510000G>T	ENST00000322641.5	+	1	86	c.64G>T	c.(64-66)Ggg>Tgg	p.G22W	AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron	NM_001005163.2	NP_001005163.1	Q9H346	O52D1_HUMAN	olfactory receptor, family 52, subfamily D, member 1	22					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.46e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGGGATCCCAGGGCTGGAGGC	0.488													6	91					3.59834e-05	3.99423e-05	1	1	0	T	5510000	G	T	5510000	3	4	81	1	0	0	0	0	1	0	0	0	11162	1000	35	4	66	4	OR52D1	11	5510000	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	35001	5510000	129496516	8336	11952											
UBQLNL	143630	broad.mit.edu	37	11	5537069	5537069	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:5537069C>T	ENST00000380184.1	-	1	866	c.603G>A	c.(601-603)acG>acA	p.T201T	HBG2_ENST00000380259.2_Intron	NM_145053.4	NP_659490.4	Q8IYU4	UBQLN_HUMAN	ubiquilin-like	201								p.T201T(1)		endometrium(1)|kidney(3)|large_intestine(9)|lung(13)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.136)		TCAATTGTTGCGTGTCTAGAT	0.483													50	78					0	0	1	0	0	T	5537069	C	T	5537069	2	4	81	1	0	0	0	0	0	0	0	1	16961	755	27	1		1	UBQLNL	11	5537069	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	27069	5537069	129469447	8337	11953											
TRIM5	85363	broad.mit.edu	37	11	5688922	5688922	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:5688922T>G	ENST00000396847.3	-	5	999	c.764A>C	c.(763-765)aAa>aCa	p.K255T	TRIM5_ENST00000483835.1_5'UTR|TRIM5_ENST00000396855.3_Missense_Mutation_p.K255T|TRIM5_ENST00000380034.3_Missense_Mutation_p.K255T|TRIM5_ENST00000305836.5_Intron|TRIM5_ENST00000396853.4_Intron|TRIM5_ENST00000380027.1_Missense_Mutation_p.K255T			Q9C035	TRIM5_HUMAN	tripartite motif containing 5	255					interspecies interaction between organisms|protein trimerization|response to virus	cytoplasm|cytoplasmic mRNA processing body	ligase activity|protein binding|protein homodimerization activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)|Lung NSC(207;0.138)|all_lung(207;0.221)		Epithelial(150;7.21e-09)|BRCA - Breast invasive adenocarcinoma(625;0.139)		CACATACCTTTTTATGACGCC	0.408													25	47					0	0	1	0	0	G	5688922	T	G	5688922	3	3	81	1	0	0	0	0	1	0	0	0	16586	1841	64	5	972	5	TRIM5	11	5688922	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	151853	5688922	129317594	8338	11954											
TRIM22	10346	broad.mit.edu	37	11	5719631	5719631	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:5719631G>A	ENST00000379965.3	+	4	883	c.606G>A	c.(604-606)ctG>ctA	p.L202L	TRIM5_ENST00000380027.1_Intron	NM_001199573.1|NM_006074.4	NP_001186502.1|NP_006065.2	Q8IYM9	TRI22_HUMAN	tripartite motif containing 22	202					immune response|interspecies interaction between organisms|protein trimerization|response to virus	Cajal body|Golgi apparatus|nuclear speck	ligase activity|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			kidney(3)|large_intestine(8)|lung(9)|prostate(1)|stomach(2)	23		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;7.54e-09)|BRCA - Breast invasive adenocarcinoma(625;0.14)		AGAGAGAGCTGCAAAAGCTGG	0.488													25	27					0	0	1	0	0	A	5719631	G	A	5719631	2	1	81	1	0	0	0	0	0	0	0	1	16557	1306	46	2		2	TRIM22	11	5719631	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	30709	5719631	129286885	8339	11955											
OR52E6	390078	broad.mit.edu	37	11	5862816	5862816	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:5862816G>T	ENST00000329322.5	-	1	311	c.312C>A	c.(310-312)ttC>ttA	p.F104L	TRIM5_ENST00000380027.1_Intron|OR52E6_ENST00000379946.2_Missense_Mutation_p.F108L	NM_001005167.1	NP_001005167.1	Q96RD3	O52E6_HUMAN	olfactory receptor, family 52, subfamily E, member 6	104					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.55e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AATGGATGAAGAACATCTGAG	0.458													10	190					0.000442599	0.000477972	1	1	0	T	5862816	G	T	5862816	3	4	81	1	0	0	0	0	1	0	0	0	11165	933	33	4	631	4	OR52E6	11	5862816	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	143185	5862816	129143700	8340	11956											
OR52E4	390081	broad.mit.edu	37	11	5906257	5906257	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:5906257T>C	ENST00000316987.2	+	1	757	c.735T>C	c.(733-735)caT>caC	p.H245H		NM_001005165.1	NP_001005165.1	Q8NGH9	O52E4_HUMAN	olfactory receptor, family 52, subfamily E, member 4	245					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(2)|prostate(1)|skin(2)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GTGGTTCTCATGTCTGTGTTA	0.403													99	79					0	0	1	0	0	C	5906257	T	C	5906257	2	2	81	1	0	0	0	0	0	0	0	1	11164	1461	51	3		3	OR52E4	11	5906257	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	43441	5906257	129100259	8341	11957											
OR56A3	390083	broad.mit.edu	37	11	5969408	5969408	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:5969408G>A	ENST00000329564.6	+	1	839	c.832G>A	c.(832-834)Gtc>Atc	p.V278I		NM_001003443.2	NP_001003443.2	Q8NH54	O56A3_HUMAN	olfactory receptor, family 56, subfamily A, member 3	278					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(27)|stomach(1)|upper_aerodigestive_tract(1)	41		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGATGTGCCAGTCTTGCTCAA	0.483													63	88					0	0	1	0	0	A	5969408	G	A	5969408	3	1	81	1	0	0	0	0	1	0	0	0	11182	1029	36	2	834	2	OR56A3	11	5969408	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	63151	5969408	129037108	8342	11958											
OR56A4	120793	broad.mit.edu	37	11	6023843	6023843	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:6023843A>G	ENST00000330728.4	-	1	581	c.536T>C	c.(535-537)gTg>gCg	p.V179A		NM_001005179.2	NP_001005179.2	Q8NGH8	O56A4_HUMAN	olfactory receptor, family 56, subfamily A, member 4	127					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	32		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCAGATGGCCACATAACGGTC	0.493													10	15					0	0	1	0	0	G	6023843	A	G	6023843	3	3	81	1	0	0	0	0	1	0	0	0	11183	159	6	3	563	3	OR56A4	11	6023843	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	54435	6023843	128982673	8343	11959	51	2									
OR56A4	120793	broad.mit.edu	37	11	6023849	6023849	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:6023849C>T	ENST00000330728.4	-	1	575	c.530G>A	c.(529-531)cGt>cAt	p.R177H		NM_001005179.2	NP_001005179.2	Q8NGH8	O56A4_HUMAN	olfactory receptor, family 56, subfamily A, member 4	125					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	32		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGCCACATAACGGTCATAGGC	0.502													10	18					0	0	1	0	0	T	6023849	C	T	6023849	3	4	81	1	0	0	0	0	1	0	0	0	11183	536	19	1	569	1	OR56A4	11	6023849	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	6	6023849	128982667	8344	11960	51	2									
OR52B2	255725	broad.mit.edu	37	11	6190901	6190901	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:6190901G>T	ENST00000530810.1	-	1	737	c.656C>A	c.(655-657)tCt>tAt	p.S219Y	RP11-290F24.3_ENST00000529961.1_RNA	NM_001004052.1	NP_001004052.1	Q96RD2	O52B2_HUMAN	olfactory receptor, family 52, subfamily B, member 2	219					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(15)	21		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;3.69e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAGTGAGTAAGACACAGCGAT	0.517													18	21					6.94344e-10	8.44171e-10	1	1	0	T	6190901	G	T	6190901	3	4	81	1	0	0	0	0	1	0	0	0	11159	942	33	4	318	4	OR52B2	11	6190901	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	167052	6190901	128815615	8345	11961	52	2									
OR52B2	255725	broad.mit.edu	37	11	6190908	6190908	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:6190908C>T	ENST00000530810.1	-	1	730	c.649G>A	c.(649-651)Gct>Act	p.A217T	RP11-290F24.3_ENST00000529961.1_RNA	NM_001004052.1	NP_001004052.1	Q96RD2	O52B2_HUMAN	olfactory receptor, family 52, subfamily B, member 2	217					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(15)	21		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;3.69e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TAAGACACAGCGATGAGGATA	0.512													20	22					0	0	1	0	0	T	6190908	C	T	6190908	3	4	81	1	0	0	0	0	1	0	0	0	11159	768	27	1	325	1	OR52B2	11	6190908	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	7	6190908	128815608	8346	11962	52	2									
OR52W1	120787	broad.mit.edu	37	11	6221156	6221156	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:6221156A>G	ENST00000311352.2	+	1	781	c.703A>G	c.(703-705)Acc>Gcc	p.T235A		NM_001005178.1	NP_001005178.1	Q6IF63	O52W1_HUMAN	olfactory receptor, family 52, subfamily W, member 1	235					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)	11		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;2.13e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCAGCTACCTACCCGGGAGGC	0.517													19	193					0	0	1	0	0	G	6221156	A	G	6221156	3	3	81	1	0	0	0	0	1	0	0	0	11180	391	14	3	705	3	OR52W1	11	6221156	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	30248	6221156	128785360	8347	11963											
OR52W1	120787	broad.mit.edu	37	11	6221305	6221305	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:6221305C>T	ENST00000311352.2	+	1	930	c.852C>T	c.(850-852)aaC>aaT	p.N284N		NM_001005178.1	NP_001005178.1	Q6IF63	O52W1_HUMAN	olfactory receptor, family 52, subfamily W, member 1	284					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)	11		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;2.13e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TTCTCTCCAACATCTACTTGC	0.527													158	214					0	0	1	0	0	T	6221305	C	T	6221305	2	4	81	1	0	0	0	0	0	0	0	1	11180	477	17	2		2	OR52W1	11	6221305	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	149	6221305	128785211	8348	11964											
C11orf42	160298	broad.mit.edu	37	11	6231582	6231582	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:6231582C>T	ENST00000316375.2	+	2	625	c.575C>T	c.(574-576)cCt>cTt	p.P192L		NM_173525.2	NP_775796.2	Q8N5U0	CK042_HUMAN	chromosome 11 open reading frame 42	192										endometrium(3)|kidney(3)|large_intestine(1)|lung(4)|ovary(2)|skin(1)|soft_tissue(1)	15		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.95e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CGGTCATTACCTGTTGCCTTC	0.567													7	87					0	0	1	0	0	T	6231582	C	T	6231582	3	4	81	1	0	0	0	0	1	0	0	0	1646	681	24	2	581	2	C11orf42	11	6231582	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	10277	6231582	128774934	8349	11965											
FAM160A2	84067	broad.mit.edu	37	11	6232933	6232933	+	Missense_Mutation	SNP	G	G	C	rs139429864		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:6232933G>C	ENST00000265978.4	-	12	3122	c.2764C>G	c.(2764-2766)Cgg>Ggg	p.R922G	FAM160A2_ENST00000529360.1_5'UTR|FAM160A2_ENST00000449352.2_Missense_Mutation_p.R908G	NM_001098794.1|NM_032127.3	NP_001092264.1|NP_115503.2	Q8N612	F16A2_HUMAN	family with sequence similarity 160, member A2	908					early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|protein transport	FHF complex	protein binding	p.R922W(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GCCCCGCCCCGGGTGAGTAGA	0.597													8	86					0	0	1	0	0	C	6232933	G	C	6232933	3	2	81	1	0	0	0	0	1	0	0	0	5499	1115	39	5	200	5	FAM160A2	11	6232933	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1351	6232933	128773583	8350	11966											
FAM160A2	84067	broad.mit.edu	37	11	6235765	6235765	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:6235765C>T	ENST00000265978.4	-	11	2833	c.2475G>A	c.(2473-2475)gcG>gcA	p.A825A	FAM160A2_ENST00000529360.1_5'UTR|FAM160A2_ENST00000449352.2_Silent_p.A811A	NM_001098794.1|NM_032127.3	NP_001092264.1|NP_115503.2	Q8N612	F16A2_HUMAN	family with sequence similarity 160, member A2	811					early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|protein transport	FHF complex	protein binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CCTGGGAAGCCGCAAAGTTCT	0.532													14	131					0	0	1	0	0	T	6235765	C	T	6235765	2	4	81	1	0	0	0	0	0	0	0	1	5499	639	23	1		1	FAM160A2	11	6235765	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2832	6235765	128770751	8351	11967											
FAM160A2	84067	broad.mit.edu	37	11	6239802	6239802	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:6239802C>A	ENST00000265978.4	-	8	1821	c.1463G>T	c.(1462-1464)aGg>aTg	p.R488M	FAM160A2_ENST00000524416.1_Intron|FAM160A2_ENST00000449352.2_Intron	NM_001098794.1|NM_032127.3	NP_001092264.1|NP_115503.2	Q8N612	F16A2_HUMAN	family with sequence similarity 160, member A2	479					early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|protein transport	FHF complex	protein binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GATGTCCTCCCTTCTCCCTGT	0.612													6	108					0.248553	0.249876	1	1	0	A	6239802	C	A	6239802	3	1	81	1	0	0	0	0	1	0	0	0	5499	681	24	4	1517	4	FAM160A2	11	6239802	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	4037	6239802	128766714	8352	11968											
CCKBR	887	broad.mit.edu	37	11	6281259	6281259	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:6281259T>C	ENST00000525462.1	+	1	104	c.101T>C	c.(100-102)gTg>gCg	p.V34A	CCKBR_ENST00000531712.1_Missense_Mutation_p.V34A|CCKBR_ENST00000334619.2_Missense_Mutation_p.V34A|CCKBR_ENST00000525014.1_Missense_Mutation_p.V34A|CCKBR_ENST00000532715.1_Missense_Mutation_p.V34A			P32239	GASR_HUMAN	cholecystokinin B receptor	34					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cell proliferation|digestion|elevation of cytosolic calcium ion concentration|feeding behavior|positive regulation of cell proliferation|sensory perception		1-phosphatidylinositol-3-kinase regulator activity|gastrin receptor activity|phosphatidylinositol phospholipase C activity|type B gastrin/cholecystokinin receptor binding			NS(2)|breast(2)|endometrium(4)|kidney(13)|large_intestine(10)|lung(22)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	Pentagastrin(DB00183)	AGCAGCAGTGTGGGCAACCTC	0.682													4	8					0	0	1	0	0	C	6281259	T	C	6281259	3	2	81	1	0	0	0	0	1	0	0	0	2901	1696	59	3	103	3	CCKBR	11	6281259	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	41457	6281259	128725257	8353	11969											
CCKBR	887	broad.mit.edu	37	11	6291971	6291971	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:6291971G>A	ENST00000525462.1	+	4	752	c.749G>A	c.(748-750)cGc>cAc	p.R250H	CCKBR_ENST00000334619.2_Missense_Mutation_p.R250H|CCKBR_ENST00000532715.1_Missense_Mutation_p.R166H			P32239	GASR_HUMAN	cholecystokinin B receptor	208					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cell proliferation|digestion|elevation of cytosolic calcium ion concentration|feeding behavior|positive regulation of cell proliferation|sensory perception		1-phosphatidylinositol-3-kinase regulator activity|gastrin receptor activity|phosphatidylinositol phospholipase C activity|type B gastrin/cholecystokinin receptor binding			NS(2)|breast(2)|endometrium(4)|kidney(13)|large_intestine(10)|lung(22)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	Pentagastrin(DB00183)	TTAGGGCTTCGCTTTGACGGC	0.602													5	57					0	0	1	0	0	A	6291971	G	A	6291971	3	1	81	1	0	0	0	0	1	0	0	0	2901	1087	38	1	763	1	CCKBR	11	6291971	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	10712	6291971	128714545	8354	11970											
CCKBR	887	broad.mit.edu	37	11	6292066	6292066	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:6292066G>A	ENST00000525462.1	+	4	847	c.844G>A	c.(844-846)Gag>Aag	p.E282K	CCKBR_ENST00000334619.2_Intron|CCKBR_ENST00000532396.1_Intron|CCKBR_ENST00000532715.1_Intron			P32239	GASR_HUMAN	cholecystokinin B receptor	242					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cell proliferation|digestion|elevation of cytosolic calcium ion concentration|feeding behavior|positive regulation of cell proliferation|sensory perception		1-phosphatidylinositol-3-kinase regulator activity|gastrin receptor activity|phosphatidylinositol phospholipase C activity|type B gastrin/cholecystokinin receptor binding			NS(2)|breast(2)|endometrium(4)|kidney(13)|large_intestine(10)|lung(22)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	Pentagastrin(DB00183)	AAATCTGGGCGAGGCGGAGCT	0.622													21	14					0	0	1	0	0	A	6292066	G	A	6292066	3	1	81	1	0	0	0	0	1	0	0	0	2901	1073	37	1		1	CCKBR	11	6292066	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	95	6292066	128714450	8355	11971											
PRKCDBP	112464	broad.mit.edu	37	11	6340468	6340468	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:6340468C>T	ENST00000303927.3	-	2	881	c.711G>A	c.(709-711)ccG>ccA	p.P237P	PRKCDBP_ENST00000530979.1_Silent_p.P269P	NM_145040.2	NP_659477.2	Q969G5	PRDBP_HUMAN	protein kinase C, delta binding protein	237										large_intestine(3)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	9		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;4.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CGGTGTCCTGCGGAGGCTCTG	0.692													83	97					0	0	1	0	0	T	6340468	C	T	6340468	2	4	81	1	0	0	0	0	0	0	0	1	12562	755	27	1		1	PRKCDBP	11	6340468	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	48402	6340468	128666048	8356	11972											
APBB1	322	broad.mit.edu	37	11	6417022	6417022	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:6417022C>T	ENST00000389906.2	-	13	2058	c.1959G>A	c.(1957-1959)gcG>gcA	p.A653A	APBB1_ENST00000311051.3_Silent_p.A651A|APBB1_ENST00000609331.1_Silent_p.A418A|APBB1_ENST00000299402.6_Silent_p.A651A|APBB1_ENST00000529519.1_Silent_p.A178A|APBB1_ENST00000530885.1_Silent_p.A431A|APBB1_ENST00000608394.1_Silent_p.A394A|APBB1_ENST00000608655.1_Silent_p.A433A|APBB1_ENST00000608704.1_Silent_p.A394A|APBB1_ENST00000608645.1_Silent_p.A394A|APBB1_ENST00000526240.1_5'UTR|APBB1_ENST00000609360.1_Silent_p.A653A			O00213	APBB1_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65)	653	PID 2.				apoptosis|axonogenesis|cell cycle arrest|histone H4 acetylation|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of thymidylate synthase biosynthetic process|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|signal transduction|transcription, DNA-dependent	cytoplasm|growth cone|lamellipodium|nucleus|plasma membrane|synapse	beta-amyloid binding|chromatin binding|histone binding|proline-rich region binding|transcription factor binding			breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	24		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		TTACCATGCACGCAGCCTGCA	0.627													22	24					0	0	1	0	0	T	6417022	C	T	6417022	2	4	81	1	0	0	0	0	0	0	0	1	755	523	19	1		1	APBB1	11	6417022	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	76554	6417022	128589494	8357	11973											
APBB1	322	broad.mit.edu	37	11	6422859	6422859	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:6422859C>T	ENST00000609360.1	-	10	1547	c.1448G>A	c.(1447-1449)cGc>cAc	p.R483H	APBB1_ENST00000311051.3_Missense_Mutation_p.R481H|APBB1_ENST00000299402.6_Missense_Mutation_p.R481H|APBB1_ENST00000608645.1_Missense_Mutation_p.R224H|APBB1_ENST00000609331.1_Missense_Mutation_p.R248H|APBB1_ENST00000608655.1_Missense_Mutation_p.R263H|APBB1_ENST00000529519.1_Missense_Mutation_p.R8H|APBB1_ENST00000608704.1_Missense_Mutation_p.R224H|APBB1_ENST00000608394.1_Missense_Mutation_p.R224H|APBB1_ENST00000530885.1_Missense_Mutation_p.R261H|APBB1_ENST00000389906.2_Missense_Mutation_p.R483H	NM_001164.3	NP_001155.1	O00213	APBB1_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65)		PID 1.				apoptosis|axonogenesis|cell cycle arrest|histone H4 acetylation|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of thymidylate synthase biosynthetic process|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|signal transduction|transcription, DNA-dependent	cytoplasm|growth cone|lamellipodium|nucleus|plasma membrane|synapse	beta-amyloid binding|chromatin binding|histone binding|proline-rich region binding|transcription factor binding	p.R481L(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	24		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		TGCCTCACAGCGAAACACGTG	0.577													21	29					0	0	1	0	0	T	6422859	C	T	6422859	3	4	81	1	0	0	0	0	1	0	0	0	755	768	27	1	708	1	APBB1	11	6422859	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	5837	6422859	128583657	8358	11974											
APBB1	322	broad.mit.edu	37	11	6423400	6423400	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:6423400T>C	ENST00000609360.1	-	8	1393	c.1294A>G	c.(1294-1296)Aag>Gag	p.K432E	APBB1_ENST00000311051.3_Missense_Mutation_p.K432E|APBB1_ENST00000299402.6_Missense_Mutation_p.K432E|APBB1_ENST00000608645.1_Missense_Mutation_p.K173E|APBB1_ENST00000609331.1_Missense_Mutation_p.K197E|APBB1_ENST00000608655.1_Missense_Mutation_p.K212E|APBB1_ENST00000529519.1_5'UTR|APBB1_ENST00000608704.1_Missense_Mutation_p.K173E|APBB1_ENST00000608394.1_Missense_Mutation_p.K173E|APBB1_ENST00000530885.1_Missense_Mutation_p.K212E|APBB1_ENST00000389906.2_Missense_Mutation_p.K432E	NM_001164.3	NP_001155.1	O00213	APBB1_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65)		PID 1.				apoptosis|axonogenesis|cell cycle arrest|histone H4 acetylation|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of thymidylate synthase biosynthetic process|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|signal transduction|transcription, DNA-dependent	cytoplasm|growth cone|lamellipodium|nucleus|plasma membrane|synapse	beta-amyloid binding|chromatin binding|histone binding|proline-rich region binding|transcription factor binding			breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	24		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		TCCACTAGCTTTAGTGTCTCA	0.607													12	16					0	0	1	0	0	C	6423400	T	C	6423400	3	2	81	1	0	0	0	0	1	0	0	0	755	1850	64	3	866	3	APBB1	11	6423400	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	541	6423400	128583116	8359	11975											
APBB1	322	broad.mit.edu	37	11	6432274	6432274	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:6432274C>T	ENST00000609360.1	-	2	403	c.304G>A	c.(304-306)Gag>Aag	p.E102K	APBB1_ENST00000311051.3_Missense_Mutation_p.E102K|APBB1_ENST00000299402.6_Missense_Mutation_p.E102K|APBB1_ENST00000389906.2_Missense_Mutation_p.E102K	NM_001164.3	NP_001155.1	O00213	APBB1_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65)						apoptosis|axonogenesis|cell cycle arrest|histone H4 acetylation|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of thymidylate synthase biosynthetic process|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|signal transduction|transcription, DNA-dependent	cytoplasm|growth cone|lamellipodium|nucleus|plasma membrane|synapse	beta-amyloid binding|chromatin binding|histone binding|proline-rich region binding|transcription factor binding			breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	24		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		ATCTCAGGCTCCTGGCTGGCC	0.637													23	296					0	0	1	0	0	T	6432274	C	T	6432274	3	4	81	1	0	0	0	0	1	0	0	0	755	864	30	2	1880	2	APBB1	11	6432274	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	8874	6432274	128574242	8360	11976											
APBB1	322	broad.mit.edu	37	11	6432549	6432549	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:6432549G>A	ENST00000609360.1	-	2	128	c.29C>T	c.(28-30)tCg>tTg	p.S10L	APBB1_ENST00000311051.3_Missense_Mutation_p.S10L|APBB1_ENST00000299402.6_Missense_Mutation_p.S10L|APBB1_ENST00000389906.2_Missense_Mutation_p.S10L	NM_001164.3	NP_001155.1	O00213	APBB1_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65)						apoptosis|axonogenesis|cell cycle arrest|histone H4 acetylation|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of thymidylate synthase biosynthetic process|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|signal transduction|transcription, DNA-dependent	cytoplasm|growth cone|lamellipodium|nucleus|plasma membrane|synapse	beta-amyloid binding|chromatin binding|histone binding|proline-rich region binding|transcription factor binding			breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	24		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		ATTAATGGCCGACTGGCTCAG	0.617													38	71					0	0	1	0	0	A	6432549	G	A	6432549	3	1	81	1	0	0	0	0	1	0	0	0	755	1059	37	1	2155	1	APBB1	11	6432549	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	275	6432549	128573967	8361	11977											
HPX	3263	broad.mit.edu	37	11	6458289	6458289	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:6458289G>A	ENST00000265983.3	-	7	922	c.822C>T	c.(820-822)acC>acT	p.T274T		NM_000613.2	NP_000604.1	P02790	HEMO_HUMAN	hemopexin	274	Hemopexin-like 4.				cellular iron ion homeostasis|interspecies interaction between organisms	extracellular space	heme transporter activity|metal ion binding|protein binding			endometrium(1)|large_intestine(2)|lung(11)|prostate(1)	15		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;5.46e-08)|BRCA - Breast invasive adenocarcinoma(625;0.19)		TGAAGGCATAGGTGGCACCAT	0.517													24	57					0	0	1	0	0	A	6458289	G	A	6458289	2	1	81	1	0	0	0	0	0	0	0	1	7387	987	35	2		2	HPX	11	6458289	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	25740	6458289	128548227	8362	11978											
HPX	3263	broad.mit.edu	37	11	6459619	6459619	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:6459619C>T	ENST00000265983.3	-	5	557	c.457G>A	c.(457-459)Gaa>Aaa	p.E153K	HPX_ENST00000525057.1_5'UTR	NM_000613.2	NP_000604.1	P02790	HEMO_HUMAN	hemopexin	153					cellular iron ion homeostasis|interspecies interaction between organisms	extracellular space	heme transporter activity|metal ion binding|protein binding			endometrium(1)|large_intestine(2)|lung(11)|prostate(1)	15		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;5.46e-08)|BRCA - Breast invasive adenocarcinoma(625;0.19)		GCTTGACATTCTCCACGGTGA	0.512													7	157					0	0	1	0	0	T	6459619	C	T	6459619	3	4	81	1	0	0	0	0	1	0	0	0	7387	922	32	2	955	2	HPX	11	6459619	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1330	6459619	128546897	8363	11979											
TRIM3	10612	broad.mit.edu	37	11	6477399	6477399	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:6477399C>T	ENST00000525074.1	-	7	1830	c.1436G>A	c.(1435-1437)cGt>cAt	p.R479H	TRIM3_ENST00000359518.3_Missense_Mutation_p.R479H|TRIM3_ENST00000536344.1_Missense_Mutation_p.R360H|TRIM3_ENST00000345851.3_Missense_Mutation_p.R479H|TRIM3_ENST00000537602.1_Missense_Mutation_p.R401H|TRIM3_ENST00000529058.1_5'UTR	NM_001248006.1	NP_001234935.1	O75382	TRIM3_HUMAN	tripartite motif containing 3	479					nervous system development|protein transport	early endosome	protein C-terminus binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(3)	27		all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTCCCTTCCACGACTGCCTGT	0.532													4	52					0	0	1	0	0	T	6477399	C	T	6477399	3	4	81	1	0	0	0	0	1	0	0	0	16565	536	19	1	822	1	TRIM3	11	6477399	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	17780	6477399	128529117	8364	11980											
TRIM3	10612	broad.mit.edu	37	11	6478090	6478090	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:6478090C>T	ENST00000525074.1	-	6	1260	c.866G>A	c.(865-867)cGg>cAg	p.R289Q	TRIM3_ENST00000359518.3_Missense_Mutation_p.R289Q|TRIM3_ENST00000536344.1_Missense_Mutation_p.R170Q|TRIM3_ENST00000345851.3_Missense_Mutation_p.R289Q|TRIM3_ENST00000537602.1_Intron|TRIM3_ENST00000529058.1_5'UTR	NM_001248006.1	NP_001234935.1	O75382	TRIM3_HUMAN	tripartite motif containing 3	289					nervous system development|protein transport	early endosome	protein C-terminus binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(3)	27		all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTCATGTGGCCGCTCCGGGAA	0.667													25	60					0	0	1	0	0	T	6478090	C	T	6478090	3	4	81	1	0	0	0	0	1	0	0	0	16565	652	23	1	1396	1	TRIM3	11	6478090	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	691	6478090	128528426	8365	11981											
DNHD1	144132	broad.mit.edu	37	11	6524151	6524151	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:6524151C>T	ENST00000254579.6	+	4	1479	c.915C>T	c.(913-915)taC>taT	p.Y305Y	DNHD1_ENST00000354685.3_Silent_p.Y305Y|DNHD1_ENST00000527990.2_Silent_p.Y305Y	NM_144666.2	NP_653267.2	Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	305					microtubule-based movement	dynein complex	microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		CCAGCCGGTACTTTAGGTGAT	0.532													15	15					0	0	1	0	0	T	6524151	C	T	6524151	2	4	81	1	0	0	0	0	0	0	0	1	4695	576	20	2		2	DNHD1	11	6524151	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	46061	6524151	128482365	8366	11982											
DNHD1	144132	broad.mit.edu	37	11	6541014	6541014	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:6541014A>G	ENST00000254579.6	+	8	2141	c.1577A>G	c.(1576-1578)tAc>tGc	p.Y526C	DNHD1_ENST00000354685.3_Missense_Mutation_p.Y526C|DNHD1_ENST00000527990.2_Missense_Mutation_p.Y526C	NM_144666.2	NP_653267.2	Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	526					microtubule-based movement	dynein complex	microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		CTGGTTGACTACATGATTTGT	0.517													34	42					0	0	1	0	0	G	6541014	A	G	6541014	3	3	81	1	0	0	0	0	1	0	0	0	4695	391	14	3	1599	3	DNHD1	11	6541014	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	16863	6541014	128465502	8367	11983											
DNHD1	144132	broad.mit.edu	37	11	6541320	6541320	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:6541320C>A	ENST00000254579.6	+	9	2337	c.1773C>A	c.(1771-1773)acC>acA	p.T591T	DNHD1_ENST00000354685.3_Silent_p.T591T|DNHD1_ENST00000527990.2_Silent_p.T591T	NM_144666.2	NP_653267.2	Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	591					microtubule-based movement	dynein complex	microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		CTGTCAAGACCTCTGCCTTGC	0.478													11	65					4.68919e-08	5.54405e-08	1	1	0	A	6541320	C	A	6541320	2	1	81	1	0	0	0	0	0	0	0	1	4695	668	24	4		4	DNHD1	11	6541320	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	306	6541320	128465196	8368	11984											
DNHD1	144132	broad.mit.edu	37	11	6587819	6587819	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:6587819C>T	ENST00000254579.6	+	35	11773	c.11209C>T	c.(11209-11211)Cta>Tta	p.L3737L	DNHD1_ENST00000527990.2_Silent_p.L3737L	NM_144666.2	NP_653267.2	Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	3737					microtubule-based movement	dynein complex	microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		ACCCCAAGTGCTAGGTTGTGA	0.507													9	10					0	0	1	0	0	T	6587819	C	T	6587819	2	4	81	1	0	0	0	0	0	0	0	1	4695	796	28	2		2	DNHD1	11	6587819	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	46499	6587819	128418697	8369	11985											
TPP1	1200	broad.mit.edu	37	11	6640080	6640080	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:6640080G>A	ENST00000299427.6	-	3	216	c.156C>T	c.(154-156)gcC>gcT	p.A52A	TPP1_ENST00000534644.1_Intron|TPP1_ENST00000528657.1_3'UTR|RP11-732A19.9_ENST00000545572.1_RNA|TPP1_ENST00000533371.1_5'UTR	NM_000391.3	NP_000382.3	O14773	TPP1_HUMAN	tripeptidyl peptidase I	52					bone resorption|cell death|lipid metabolic process|lysosome organization|nervous system development|neuromuscular process controlling balance|peptide catabolic process|protein catabolic process|proteolysis	lysosome|melanosome|soluble fraction	metal ion binding|peptide binding|protein binding|serine-type endopeptidase activity|tripeptidyl-peptidase activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;3.45e-09)|BRCA - Breast invasive adenocarcinoma(625;0.131)		GCTGTCTCAGGGCAAAGGTGA	0.607													32	54					0	0	1	0	0	A	6640080	G	A	6640080	2	1	81	1	0	0	0	0	0	0	0	1	16472	1219	43	2		2	TPP1	11	6640080	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	52261	6640080	128366436	8370	11986											
TPP1	1200	broad.mit.edu	37	11	6640146	6640146	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:6640146C>T	ENST00000299427.6	-	3	150	c.90G>A	c.(88-90)acG>acA	p.T30T	TPP1_ENST00000534644.1_Intron|TPP1_ENST00000528657.1_3'UTR|RP11-732A19.9_ENST00000545572.1_RNA|TPP1_ENST00000533371.1_5'UTR	NM_000391.3	NP_000382.3	O14773	TPP1_HUMAN	tripeptidyl peptidase I	30					bone resorption|cell death|lipid metabolic process|lysosome organization|nervous system development|neuromuscular process controlling balance|peptide catabolic process|protein catabolic process|proteolysis	lysosome|melanosome|soluble fraction	metal ion binding|peptide binding|protein binding|serine-type endopeptidase activity|tripeptidyl-peptidase activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;3.45e-09)|BRCA - Breast invasive adenocarcinoma(625;0.131)		CTGGGGGCAGCCTGTAGGGTC	0.577													11	78					0	0	1	0	0	T	6640146	C	T	6640146	5	4	81	1	0	0	0	0	0	0	1	0	16472	753	26	2	1645	2	TPP1	11	6640146	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	66	6640146	128366370	8371	11987											
DCHS1	8642	broad.mit.edu	37	11	6643931	6643931	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:6643931C>T	ENST00000299441.3	-	21	9387	c.8976G>A	c.(8974-8976)gaG>gaA	p.E2992E		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	2992					calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GACTAGGTGGCTCCCGGCCCA	0.642													4	2					0	0	1	0	0	T	6643931	C	T	6643931	2	4	81	1	0	0	0	0	0	0	0	1	4310	796	28	2		2	DCHS1	11	6643931	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3785	6643931	128362585	8372	11988											
DCHS1	8642	broad.mit.edu	37	11	6644437	6644437	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:6644437C>T	ENST00000299441.3	-	21	8881	c.8470G>A	c.(8470-8472)Gaa>Aaa	p.E2824K		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	2824	Cadherin 27.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CGGGCACCTTCGGGCACTTGG	0.587													4	7					0	0	1	0	0	T	6644437	C	T	6644437	3	4	81	1	0	0	0	0	1	0	0	0	4310	893	31	1	1430	1	DCHS1	11	6644437	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	506	6644437	128362079	8373	11989											
DCHS1	8642	broad.mit.edu	37	11	6648773	6648773	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:6648773G>A	ENST00000299441.3	-	14	5908	c.5497C>T	c.(5497-5499)Cca>Tca	p.P1833S		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	1833	Cadherin 17.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTGAGAGCTGGCTGGCCTCCA	0.592													8	13					0	0	1	0	0	A	6648773	G	A	6648773	3	1	81	1	0	0	0	0	1	0	0	0	4310	1203	42	2	4431	2	DCHS1	11	6648773	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	4336	6648773	128357743	8374	11990											
DCHS1	8642	broad.mit.edu	37	11	6661869	6661869	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:6661869G>A	ENST00000299441.3	-	2	1387	c.976C>T	c.(976-978)Cgg>Tgg	p.R326W		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	326	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCATGGACCCGCCGCTGCTCA	0.607													5	52					0	0	1	0	0	A	6661869	G	A	6661869	3	1	81	1	0	0	0	0	1	0	0	0	4310	1086	38	1	9000	1	DCHS1	11	6661869	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	13096	6661869	128344647	8375	11991											
DCHS1	8642	broad.mit.edu	37	11	6662069	6662069	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:6662069C>T	ENST00000299441.3	-	2	1187	c.776G>A	c.(775-777)cGc>cAc	p.R259H		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	259	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGCATGGTAGCGGCTCTGATT	0.607													39	55					0	0	1	0	0	T	6662069	C	T	6662069	3	4	81	1	0	0	0	0	1	0	0	0	4310	768	27	1	9200	1	DCHS1	11	6662069	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	200	6662069	128344447	8376	11992											
OR2AG1	144125	broad.mit.edu	37	11	6807113	6807113	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:6807113C>T	ENST00000307401.4	+	1	866	c.845C>T	c.(844-846)aCt>aTt	p.T282I		NM_001004489.2	NP_001004489.1	Q9H205	O2AG1_HUMAN	olfactory receptor, family 2, subfamily AG, member 1	282					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(13)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)		Epithelial(150;2.19e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		ACAATTGTCACTCCAGCCCTG	0.507													28	34					0	0	1	0	0	T	6807113	C	T	6807113	3	4	81	1	0	0	0	0	1	0	0	0	11032	565	20	2	847	2	OR2AG1	11	6807113	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	145044	6807113	128199403	8377	11993											
OR6A2	8590	broad.mit.edu	37	11	6816879	6816879	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:6816879G>A	ENST00000332601.3	-	1	249	c.61C>T	c.(61-63)Cct>Tct	p.P21S		NM_003696.2	NP_003687.2	O95222	OR6A2_HUMAN	olfactory receptor, family 6, subfamily A, member 2	21					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(4)|pancreas(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	29		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		AGTGGCGCAGGAGCAGGGAAG	0.493													22	35					0	0	1	0	0	A	6816879	G	A	6816879	3	1	81	1	0	0	0	0	1	0	0	0	11233	1174	41	2	926	2	OR6A2	11	6816879	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	9766	6816879	128189637	8378	11994											
OR10A5	144124	broad.mit.edu	37	11	6867382	6867382	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:6867382G>T	ENST00000299454.4	+	1	500	c.469G>T	c.(469-471)Gct>Tct	p.A157S	OR10A5_ENST00000379831.2_Missense_Mutation_p.A161S			Q9H207	O10A5_HUMAN	olfactory receptor, family 10, subfamily A, member 5	157					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	21		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		CTTTCCTGTAGCTACTGTGCA	0.542													44	56					2.68985e-26	3.56574e-26	1	1	0	T	6867382	G	T	6867382	3	4	81	1	0	0	0	0	1	0	0	0	10941	971	34	4	471	4	OR10A5	11	6867382	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	50503	6867382	128139134	8379	11995											
OR2D2	120776	broad.mit.edu	37	11	6913227	6913227	+	Nonsense_Mutation	SNP	G	G	A	rs148113613		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:6913227G>A	ENST00000299459.2	-	1	603	c.505C>T	c.(505-507)Cga>Tga	p.R169*		NM_003700.1	NP_003691.1	Q9H210	OR2D2_HUMAN	olfactory receptor, family 2, subfamily D, member 2	169					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	18		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		TTACTGCCTCGGTAGGGTAGC	0.493													22	33					0	0	1	0	0	A	6913227	G	A	6913227	4	1	81	1	0	0	0	0	0	1	0	0	11042	1124	39	1	424	1	OR2D2	11	6913227	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	45845	6913227	128093289	8380	11996											
ZNF215	7762	broad.mit.edu	37	11	6964317	6964317	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:6964317C>T	ENST00000278319.5	+	5	1075	c.487C>T	c.(487-489)Cca>Tca	p.P163S	ZNF215_ENST00000414517.2_Missense_Mutation_p.P163S|ZNF215_ENST00000529903.1_Missense_Mutation_p.P163S|ZNF215_ENST00000527171.1_Intron	NM_013250.2	NP_037382.2	Q9UL58	ZN215_HUMAN	zinc finger protein 215	163					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(4)	32				Epithelial(150;6.33e-08)|BRCA - Breast invasive adenocarcinoma(625;0.134)		GTTTTAGGAACCAGTGACATT	0.428													40	62					0	0	1	0	0	T	6964317	C	T	6964317	3	4	81	1	0	0	0	0	1	0	0	0	17829	507	18	2	497	2	ZNF215	11	6964317	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	51090	6964317	128042199	8381	11997											
ZNF214	7761	broad.mit.edu	37	11	7021900	7021900	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:7021900G>A	ENST00000278314.4	-	3	1329	c.1014C>T	c.(1012-1014)gaC>gaT	p.D338D	ZNF214_ENST00000536068.1_Silent_p.D338D	NM_013249.2	NP_037381.2	Q9UL59	ZN214_HUMAN	zinc finger protein 214	338					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				Epithelial(150;3.87e-08)|BRCA - Breast invasive adenocarcinoma(625;0.081)		TTCTACTGAGGTCTTTATCAC	0.373													56	56					0	0	1	0	0	A	7021900	G	A	7021900	2	1	81	1	0	0	0	0	0	0	0	1	17828	1252	44	2		2	ZNF214	11	7021900	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	57583	7021900	127984616	8382	11998											
NLRP14	338323	broad.mit.edu	37	11	7059905	7059905	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:7059905T>C	ENST00000299481.4	+	2	434	c.88T>C	c.(88-90)Ttc>Ctc	p.F30L		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	30	DAPIN.				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		ATTAAATACATTCAAGTTATT	0.428													5	77					0	0	1	0	0	C	7059905	T	C	7059905	3	2	81	1	0	0	0	0	1	0	0	0	10523	1493	52	3	90	3	NLRP14	11	7059905	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	38005	7059905	127946611	8383	11999											
NLRP14	338323	broad.mit.edu	37	11	7081244	7081244	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:7081244A>T	ENST00000299481.4	+	9	3099	c.2753A>T	c.(2752-2754)aAg>aTg	p.K918M		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	918					cell differentiation|multicellular organismal development|spermatogenesis		ATP binding			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		AATGGAGTGAAGCTTCTGTGT	0.423													32	152					0	0	1	0	0	T	7081244	A	T	7081244	3	4	81	1	0	0	0	0	1	0	0	0	10523	72	3	5	2783	5	NLRP14	11	7081244	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	21339	7081244	127925272	8384	12000											
PPFIBP2	8495	broad.mit.edu	37	11	7669752	7669752	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:7669752C>A	ENST00000299492.4	+	18	2169	c.1781C>A	c.(1780-1782)cCt>cAt	p.P594H	PPFIBP2_ENST00000530181.1_Missense_Mutation_p.P451H|PPFIBP2_ENST00000528883.1_Missense_Mutation_p.P482H|PPFIBP2_ENST00000530582.1_3'UTR|PPFIBP2_ENST00000533792.1_Missense_Mutation_p.P436H	NM_003621.3	NP_003612	Q8ND30	LIPB2_HUMAN	PTPRF interacting protein, binding protein 2 (liprin beta 2)	594	SAM 1.				cell communication|DNA integration	intracellular	DNA binding|integrase activity|protein binding			breast(8)|cervix(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				Epithelial(150;2.01e-07)|BRCA - Breast invasive adenocarcinoma(625;0.236)		ACAGCCACCCCTCAGGACATG	0.572													5	105					0.000602214	0.000646338	1	1	0	A	7669752	C	A	7669752	3	1	81	1	0	0	0	0	1	0	0	0	12359	681	24	4	1847	4	PPFIBP2	11	7669752	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	588508	7669752	127336764	8385	12001											
PPFIBP2	8495	broad.mit.edu	37	11	7670067	7670067	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:7670067C>T	ENST00000299492.4	+	19	2222	c.1834C>T	c.(1834-1836)Ctt>Ttt	p.L612F	PPFIBP2_ENST00000530181.1_Missense_Mutation_p.L469F|PPFIBP2_ENST00000528883.1_Missense_Mutation_p.L500F|PPFIBP2_ENST00000530582.1_3'UTR|PPFIBP2_ENST00000533792.1_Missense_Mutation_p.L454F	NM_003621.3	NP_003612	Q8ND30	LIPB2_HUMAN	PTPRF interacting protein, binding protein 2 (liprin beta 2)	612	SAM 1.				cell communication|DNA integration	intracellular	DNA binding|integrase activity|protein binding			breast(8)|cervix(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				Epithelial(150;2.01e-07)|BRCA - Breast invasive adenocarcinoma(625;0.236)		CAGGAAGAAGCTTGTTTTAGC	0.428													78	106					0	0	1	0	0	T	7670067	C	T	7670067	3	4	81	1	0	0	0	0	1	0	0	0	12359	797	28	2	1904	2	PPFIBP2	11	7670067	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	315	7670067	127336449	8386	12002											
PPFIBP2	8495	broad.mit.edu	37	11	7673050	7673050	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:7673050C>A	ENST00000299492.4	+	23	2799	c.2411C>A	c.(2410-2412)cCa>cAa	p.P804Q	PPFIBP2_ENST00000530181.1_Missense_Mutation_p.P661Q|PPFIBP2_ENST00000528883.1_Missense_Mutation_p.P692Q|PPFIBP2_ENST00000530582.1_3'UTR|PPFIBP2_ENST00000533792.1_Missense_Mutation_p.P646Q	NM_003621.3	NP_003612	Q8ND30	LIPB2_HUMAN	PTPRF interacting protein, binding protein 2 (liprin beta 2)	804					cell communication|DNA integration	intracellular	DNA binding|integrase activity|protein binding			breast(8)|cervix(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				Epithelial(150;2.01e-07)|BRCA - Breast invasive adenocarcinoma(625;0.236)		GCTTACACACCACTGACCACC	0.612													13	32					0.000219431	0.000239308	1	1	0	A	7673050	C	A	7673050	3	1	81	1	0	0	0	0	1	0	0	0	12359	594	21	5	2497	5	PPFIBP2	11	7673050	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2983	7673050	127333466	8387	12003											
CYB5R2	51700	broad.mit.edu	37	11	7687771	7687771	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:7687771T>G	ENST00000533558.1	-	8	1125	c.569A>C	c.(568-570)gAt>gCt	p.D190A	CYB5R2_ENST00000299497.9_Missense_Mutation_p.D190A|CYB5R2_ENST00000524790.1_Missense_Mutation_p.D190A|CYB5R2_ENST00000528585.1_Intron|CYB5R2_ENST00000299498.6_Missense_Mutation_p.D190A			Q6BCY4	NB5R2_HUMAN	cytochrome b5 reductase 2	190					sterol biosynthetic process	membrane|soluble fraction	cytochrome-b5 reductase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)	11				Epithelial(150;5.48e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GACCAAGATATCCTCCTCTGT	0.517											OREG0020724	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	15	21					0	0	1	0	0	G	7687771	T	G	7687771	3	3	81	1	0	0	0	0	1	0	0	0	4150	1435	50	4	269	4	CYB5R2	11	7687771	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	14721	7687771	127318745	8388	12004											
OR10A6	390093	broad.mit.edu	37	11	7949989	7949989	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:7949989C>A	ENST00000309838.2	-	1	220	c.221G>T	c.(220-222)aGt>aTt	p.S74I		NM_001004461.1	NP_001004461.1	Q8NH74	O10A6_HUMAN	olfactory receptor, family 10, subfamily A, member 6	74					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		AATAACTGCACTGAAACTCAG	0.428													63	69					5.82218e-30	7.75948e-30	1	1	0	A	7949989	C	A	7949989	3	1	81	1	0	0	0	0	1	0	0	0	10942	565	20	4	726	4	OR10A6	11	7949989	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	262218	7949989	127056527	8389	12005											
NLRP10	338322	broad.mit.edu	37	11	7982200	7982200	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:7982200C>A	ENST00000328600.2	-	2	1120	c.959G>T	c.(958-960)aGg>aTg	p.R320M		NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	320	NACHT.						ATP binding	p.R320M(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GTACCTCGCCCTCTCCTCCTC	0.512													16	103					1.3612e-06	1.56842e-06	1	1	0	A	7982200	C	A	7982200	3	1	81	1	0	0	0	0	1	0	0	0	10519	681	24	4	1012	4	NLRP10	11	7982200	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	32211	7982200	127024316	8390	12006											
TUB	7275	broad.mit.edu	37	11	8117140	8117140	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:8117140G>A	ENST00000305253.4	+	6	899	c.658G>A	c.(658-660)Gca>Aca	p.A220T	TUB_ENST00000534099.1_Missense_Mutation_p.A171T|TUB_ENST00000299506.2_Missense_Mutation_p.A165T	NM_003320.4	NP_003311.2	P50607	TUB_HUMAN	tubby bipartite transcription factor	165					phagocytosis|positive regulation of phagocytosis|response to stimulus	cytoplasm|extracellular region|nucleus|plasma membrane				breast(1)|cervix(1)|endometrium(9)|large_intestine(7)|lung(5)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	26		all_lung(207;6.91e-20)|Lung NSC(207;3.36e-17)		Epithelial(150;1.69e-62)|BRCA - Breast invasive adenocarcinoma(625;8.54e-06)|LUSC - Lung squamous cell carcinoma(625;0.000184)		CGCCCAGGACGCAGGGGAGAC	0.667													7	18					0	0	1	0	0	A	8117140	G	A	8117140	3	1	81	1	0	0	0	0	1	0	0	0	16804	1087	38	1	722	1	TUB	11	8117140	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	134940	8117140	126889376	8391	12007											
TUB	7275	broad.mit.edu	37	11	8117155	8117155	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:8117155G>A	ENST00000305253.4	+	6	914	c.673G>A	c.(673-675)Gct>Act	p.A225T	TUB_ENST00000534099.1_Missense_Mutation_p.A176T|TUB_ENST00000299506.2_Missense_Mutation_p.A170T	NM_003320.4	NP_003311.2	P50607	TUB_HUMAN	tubby bipartite transcription factor	170					phagocytosis|positive regulation of phagocytosis|response to stimulus	cytoplasm|extracellular region|nucleus|plasma membrane				breast(1)|cervix(1)|endometrium(9)|large_intestine(7)|lung(5)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	26		all_lung(207;6.91e-20)|Lung NSC(207;3.36e-17)		Epithelial(150;1.69e-62)|BRCA - Breast invasive adenocarcinoma(625;8.54e-06)|LUSC - Lung squamous cell carcinoma(625;0.000184)		GGAGACGGCAGCTGGTGGGGG	0.652													8	5					0	0	1	0	0	A	8117155	G	A	8117155	3	1	81	1	0	0	0	0	1	0	0	0	16804	971	34	2	737	2	TUB	11	8117155	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	15	8117155	126889361	8392	12008											
STK33	65975	broad.mit.edu	37	11	8457657	8457657	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:8457657C>A	ENST00000447869.1	-	9	1895	c.977G>T	c.(976-978)aGc>aTc	p.S326I	STK33_ENST00000396672.1_Missense_Mutation_p.S326I|STK33_ENST00000534493.1_Missense_Mutation_p.S285I|STK33_ENST00000396673.1_Missense_Mutation_p.S326I|STK33_ENST00000315204.1_Missense_Mutation_p.S326I|STK33_ENST00000473980.1_5'UTR|STK33_ENST00000358872.3_Missense_Mutation_p.S139I			Q9BYT3	STK33_HUMAN	serine/threonine kinase 33	326	Protein kinase.					Golgi apparatus|nucleus|perinuclear region of cytoplasm	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|skin(3)	23				Epithelial(150;2.13e-06)|BRCA - Breast invasive adenocarcinoma(625;0.239)		CTCTTCTGAGCTTGCCAAAAA	0.323													10	31					3.86212e-05	4.27865e-05	1	1	0	A	8457657	C	A	8457657	3	1	81	1	0	0	0	0	1	0	0	0	15356	797	28	4	583	4	STK33	11	8457657	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	340502	8457657	126548859	8393	12009											
STK33	65975	broad.mit.edu	37	11	8496321	8496321	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:8496321C>A	ENST00000447869.1	-	1	1050	c.132G>T	c.(130-132)caG>caT	p.Q44H	STK33_ENST00000396672.1_Missense_Mutation_p.Q44H|STK33_ENST00000534493.1_Missense_Mutation_p.Q3H|STK33_ENST00000396673.1_Missense_Mutation_p.Q44H|STK33_ENST00000315204.1_Missense_Mutation_p.Q44H|STK33_ENST00000358872.3_Intron			Q9BYT3	STK33_HUMAN	serine/threonine kinase 33	44						Golgi apparatus|nucleus|perinuclear region of cytoplasm	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|skin(3)	23				Epithelial(150;2.13e-06)|BRCA - Breast invasive adenocarcinoma(625;0.239)		TGCTTGATGTCTGTGACATTT	0.378													9	139					1.58986e-06	1.82794e-06	1	1	0	A	8496321	C	A	8496321	3	1	81	1	0	0	0	0	1	0	0	0	15356	912	32	4	1460	4	STK33	11	8496321	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	38664	8496321	126510195	8394	12010											
ST5	6764	broad.mit.edu	37	11	8718054	8718054	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:8718054C>T	ENST00000534127.1	-	21	3597	c.3212G>A	c.(3211-3213)cGc>cAc	p.R1071H	ST5_ENST00000534278.1_Missense_Mutation_p.R262H|ST5_ENST00000530991.1_Missense_Mutation_p.R543H|ST5_ENST00000526099.1_Missense_Mutation_p.R584H|RP11-152H18.3_ENST00000529883.1_RNA|ST5_ENST00000357665.1_Missense_Mutation_p.R1071H|ST5_ENST00000313726.6_Missense_Mutation_p.R1071H|ST5_ENST00000530438.1_Missense_Mutation_p.R651H|RPL27A_ENST00000531102.1_Intron|ST5_ENST00000526757.1_Missense_Mutation_p.R651H	NM_005418.3	NP_005409.3	P78524	ST5_HUMAN	suppression of tumorigenicity 5	1071	dDENN.				positive regulation of ERK1 and ERK2 cascade		protein binding			NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	39				Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)		CTCAAGAAAGCGGCGGATGCT	0.512													83	176					0	0	1	0	0	T	8718054	C	T	8718054	3	4	81	1	0	0	0	0	1	0	0	0	15276	768	27	1	213	1	ST5	11	8718054	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	221733	8718054	126288462	8395	12011											
ST5	6764	broad.mit.edu	37	11	8720914	8720914	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:8720914G>A	ENST00000534127.1	-	18	3129	c.2744C>T	c.(2743-2745)gCg>gTg	p.A915V	ST5_ENST00000534278.1_Missense_Mutation_p.A106V|ST5_ENST00000530991.1_Missense_Mutation_p.A387V|ST5_ENST00000526099.1_Missense_Mutation_p.A428V|ST5_ENST00000357665.1_Missense_Mutation_p.A915V|ST5_ENST00000313726.6_Missense_Mutation_p.A915V|ST5_ENST00000530438.1_Missense_Mutation_p.A495V|RPL27A_ENST00000531102.1_Intron|ST5_ENST00000526757.1_Missense_Mutation_p.A495V	NM_005418.3	NP_005409.3	P78524	ST5_HUMAN	suppression of tumorigenicity 5	915	DENN.				positive regulation of ERK1 and ERK2 cascade		protein binding			NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	39				Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)		GGCCACCACCGCGTGGGAGCA	0.617													10	23					0	0	1	0	0	A	8720914	G	A	8720914	3	1	81	1	0	0	0	0	1	0	0	0	15276	1087	38	1	693	1	ST5	11	8720914	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2860	8720914	126285602	8396	12012											
C11orf16	56673	broad.mit.edu	37	11	8942885	8942885	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:8942885T>C	ENST00000326053.5	-	6	1488	c.1382A>G	c.(1381-1383)cAg>cGg	p.Q461R	C11orf16_ENST00000525780.1_Intron	NM_020643.2	NP_065694.2	Q9NQ32	CK016_HUMAN	chromosome 11 open reading frame 16	461										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	22				Epithelial(150;4.11e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0234)		CTTGTTCCACTGACATATTGC	0.532													43	57					0	0	1	0	0	C	8942885	T	C	8942885	3	2	81	1	0	0	0	0	1	0	0	0	1635	1580	55	3	25	3	C11orf16	11	8942885	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	221971	8942885	126063631	8397	12013											
C11orf16	56673	broad.mit.edu	37	11	8948649	8948649	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:8948649G>A	ENST00000326053.5	-	4	503	c.397C>T	c.(397-399)Cag>Tag	p.Q133*	C11orf16_ENST00000525780.1_Nonsense_Mutation_p.Q133*|C11orf16_ENST00000528998.1_5'UTR	NM_020643.2	NP_065694.2	Q9NQ32	CK016_HUMAN	chromosome 11 open reading frame 16	133										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	22				Epithelial(150;4.11e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0234)		ACTCTCTGCTGCTGGGCTGGC	0.547													17	32					0	0	1	0	0	A	8948649	G	A	8948649	4	1	81	1	0	0	0	0	0	1	0	0	1635	1328	46	2	1018	2	C11orf16	11	8948649	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	5764	8948649	126057867	8398	12014											
C11orf16	56673	broad.mit.edu	37	11	8951035	8951035	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:8951035C>T	ENST00000326053.5	-	3	319	c.213G>A	c.(211-213)tgG>tgA	p.W71*	C11orf16_ENST00000525780.1_Nonsense_Mutation_p.W71*|C11orf16_ENST00000528998.1_Intron	NM_020643.2	NP_065694.2	Q9NQ32	CK016_HUMAN	chromosome 11 open reading frame 16	71										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	22				Epithelial(150;4.11e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0234)		CAGGCCCCTGCCATGCTGGGT	0.527													4	27					0	0	1	0	0	T	8951035	C	T	8951035	4	4	81	1	0	0	0	0	0	1	0	0	1635	740	26	2	1206	2	C11orf16	11	8951035	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2386	8951035	126055481	8399	12015											
TMEM9B	56674	broad.mit.edu	37	11	8969875	8969875	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:8969875G>T	ENST00000534025.1	-	5	1048	c.589C>A	c.(589-591)Ctc>Atc	p.L197I	TMEM9B_ENST00000525069.1_Missense_Mutation_p.L123I|TMEM9B_ENST00000309134.5_Missense_Mutation_p.L123I	NM_020644.1	NP_065695.1	Q9NQ34	TMM9B_HUMAN	TMEM9 domain family, member B	197					positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane	signal transducer activity			breast(1)|lung(1)|prostate(1)	3				Epithelial(150;4.39e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0237)		AATTAGCTGAGGACAACATGC	0.458													5	103					0.000602214	0.000646338	1	1	0	T	8969875	G	T	8969875	3	4	81	1	0	0	0	0	1	0	0	0	16287	1000	35	4	11	4	TMEM9B	11	8969875	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	18840	8969875	126036641	8400	12016											
NRIP3	56675	broad.mit.edu	37	11	9009126	9009126	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:9009126G>A	ENST00000309166.3	-	3	504	c.391C>T	c.(391-393)Ctc>Ttc	p.L131F	NRIP3_ENST00000531090.1_Missense_Mutation_p.L131F	NM_020645.2	NP_065696.1	Q9NQ35	NRIP3_HUMAN	nuclear receptor interacting protein 3	131					proteolysis		aspartic-type endopeptidase activity			large_intestine(1)|lung(4)|skin(1)|stomach(1)	7				Epithelial(150;4.77e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0241)		AAAGAGATGAGATTATATAGG	0.463													42	49					0	0	1	0	0	A	9009126	G	A	9009126	3	1	81	1	0	0	0	0	1	0	0	0	10702	942	33	2	354	2	NRIP3	11	9009126	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	39251	9009126	125997390	8401	12017											
SCUBE2	57758	broad.mit.edu	37	11	9068913	9068913	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:9068913T>C	ENST00000457346.2	-	16	2066	c.1992A>G	c.(1990-1992)gaA>gaG	p.E664E	SCUBE2_ENST00000520467.1_Silent_p.E664E|RP11-467K18.2_ENST00000531592.1_RNA|SCUBE2_ENST00000450649.2_Silent_p.E509E|SCUBE2_ENST00000309263.3_Silent_p.E635E			Q9NQ36	SCUB2_HUMAN	signal peptide, CUB domain, EGF-like 2	635						extracellular region	calcium ion binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(15)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42				all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116)		CACATTGGTTTTCTGCATGAC	0.557													4	44					0	0	1	0	0	C	9068913	T	C	9068913	2	2	81	1	0	0	0	0	0	0	0	1	13999	1838	64	3		3	SCUBE2	11	9068913	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	59787	9068913	125937603	8402	12018											
SCUBE2	57758	broad.mit.edu	37	11	9077443	9077443	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:9077443G>T	ENST00000457346.2	-	10	1178	c.1104C>A	c.(1102-1104)tgC>tgA	p.C368*	SCUBE2_ENST00000520467.1_Nonsense_Mutation_p.C368*|RP11-467K18.2_ENST00000531592.1_RNA|SCUBE2_ENST00000450649.2_Nonsense_Mutation_p.C368*|SCUBE2_ENST00000309263.3_Nonsense_Mutation_p.C368*			Q9NQ36	SCUB2_HUMAN	signal peptide, CUB domain, EGF-like 2	368	EGF-like 8; calcium-binding (Potential).					extracellular region	calcium ion binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(15)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42				all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116)		TATCCAAAGAGCACTCATCCA	0.502													23	132					1.10513e-12	1.38486e-12	1	1	0	T	9077443	G	T	9077443	4	4	81	1	0	0	0	0	0	1	0	0	13999	963	34	4	2038	4	SCUBE2	11	9077443	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	8530	9077443	125929073	8403	12019											
SCUBE2	57758	broad.mit.edu	37	11	9111361	9111361	+	Missense_Mutation	SNP	G	G	A	rs72549211	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:9111361G>A	ENST00000457346.2	-	2	223	c.149C>T	c.(148-150)gCc>gTc	p.A50V	SCUBE2_ENST00000520467.1_Missense_Mutation_p.A50V|SCUBE2_ENST00000534295.1_5'UTR|SCUBE2_ENST00000450649.2_Missense_Mutation_p.A50V|SCUBE2_ENST00000309263.3_Missense_Mutation_p.A50V			Q9NQ36	SCUB2_HUMAN	signal peptide, CUB domain, EGF-like 2	50	EGF-like 1; calcium-binding (Potential).					extracellular region	calcium ion binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(15)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42				all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116)		TAGCCCTTGGGCACACTCATC	0.592													44	62					0	0	1	0	0	A	9111361	G	A	9111361	3	1	81	1	0	0	0	0	1	0	0	0	13999	1203	42	2	3025	2	SCUBE2	11	9111361	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	33918	9111361	125895155	8404	12020											
DENND5A	23258	broad.mit.edu	37	11	9164959	9164959	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:9164959A>G	ENST00000328194.3	-	20	3698	c.3378T>C	c.(3376-3378)ccT>ccC	p.P1126P	DENND5A_ENST00000530044.1_Silent_p.P1126P|DENND5A_ENST00000527700.1_Silent_p.P469P	NM_001243254.1|NM_015213.3	NP_001230183.1|NP_056028.2	Q6IQ26	DEN5A_HUMAN	DENN/MADD domain containing 5A	1126										breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						CCTCTTTCTCAGGCTTATGGA	0.458													29	261					0	0	1	0	0	G	9164959	A	G	9164959	2	3	81	1	0	0	0	0	0	0	0	1	4464	175	7	3		3	DENND5A	11	9164959	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	53598	9164959	125841557	8405	12021											
DENND5A	23258	broad.mit.edu	37	11	9172281	9172281	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:9172281G>T	ENST00000328194.3	-	14	2872	c.2552C>A	c.(2551-2553)tCt>tAt	p.S851Y	DENND5A_ENST00000530044.1_Missense_Mutation_p.S851Y|DENND5A_ENST00000527700.1_Missense_Mutation_p.S194Y	NM_001243254.1|NM_015213.3	NP_001230183.1|NP_056028.2	Q6IQ26	DEN5A_HUMAN	DENN/MADD domain containing 5A	851	RUN 1.									breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						GCTGGCATCAGACTTCCTACG	0.438													19	39					1.2644e-06	1.45856e-06	1	1	0	T	9172281	G	T	9172281	3	4	81	1	0	0	0	0	1	0	0	0	4464	942	33	4	1351	4	DENND5A	11	9172281	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	7322	9172281	125834235	8406	12022											
DENND5A	23258	broad.mit.edu	37	11	9225588	9225588	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:9225588G>A	ENST00000328194.3	-	4	888	c.568C>T	c.(568-570)Cgc>Tgc	p.R190C	DENND5A_ENST00000530044.1_Missense_Mutation_p.R190C	NM_001243254.1|NM_015213.3	NP_001230183.1|NP_056028.2	Q6IQ26	DEN5A_HUMAN	DENN/MADD domain containing 5A	190										breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						GAGTTGAAGCGCTGCAGTTTG	0.522													18	35					0	0	1	0	0	A	9225588	G	A	9225588	3	1	81	1	0	0	0	0	1	0	0	0	4464	1087	38	1	3375	1	DENND5A	11	9225588	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	53307	9225588	125780928	8407	12023											
IPO7	10527	broad.mit.edu	37	11	9451283	9451283	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:9451283G>T	ENST00000379719.3	+	15	1796	c.1654G>T	c.(1654-1656)Gaa>Taa	p.E552*		NM_006391.2	NP_006382.1	O95373	IPO7_HUMAN	importin 7	552					interspecies interaction between organisms|signal transduction	Golgi apparatus|nuclear pore|soluble fraction	protein transporter activity|Ran GTPase binding|small GTPase regulator activity			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217)		CATTATAAGAGAAACAGAAAA	0.343													22	30					8.04996e-18	1.041e-17	1	1	0	T	9451283	G	T	9451283	4	4	81	1	0	0	0	0	0	1	0	0	7841	943	33	4	1712	4	IPO7	11	9451283	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	225695	9451283	125555233	8408	12024											
IPO7	10527	broad.mit.edu	37	11	9452542	9452542	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:9452542C>T	ENST00000379719.3	+	16	2015	c.1873C>T	c.(1873-1875)Cat>Tat	p.H625Y	CTD-2371O3.2_ENST00000531111.1_RNA	NM_006391.2	NP_006382.1	O95373	IPO7_HUMAN	importin 7	625					interspecies interaction between organisms|signal transduction	Golgi apparatus|nuclear pore|soluble fraction	protein transporter activity|Ran GTPase binding|small GTPase regulator activity			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217)		AGTTGAAGATCATAAAGAGGT	0.383													24	33					0	0	1	0	0	T	9452542	C	T	9452542	3	4	81	1	0	0	0	0	1	0	0	0	7841	826	29	2	1935	2	IPO7	11	9452542	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1259	9452542	125553974	8409	12025											
IPO7	10527	broad.mit.edu	37	11	9455173	9455173	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:9455173G>A	ENST00000379719.3	+	17	2080	c.1938G>A	c.(1936-1938)caG>caA	p.Q646Q		NM_006391.2	NP_006382.1	O95373	IPO7_HUMAN	importin 7	646					interspecies interaction between organisms|signal transduction	Golgi apparatus|nuclear pore|soluble fraction	protein transporter activity|Ran GTPase binding|small GTPase regulator activity			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217)		TTTTACAACAGCATGTCTTAG	0.343													3	54					0	0	1	0	0	A	9455173	G	A	9455173	2	1	81	1	0	0	0	0	0	0	0	1	7841	962	34	2		2	IPO7	11	9455173	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2631	9455173	125551343	8410	12026											
SBF2	81846	broad.mit.edu	37	11	9875174	9875174	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:9875174G>A	ENST00000256190.8	-	20	2586	c.2449C>T	c.(2449-2451)Cgg>Tgg	p.R817W	RP11-1H15.2_ENST00000533659.1_RNA	NM_030962.3	NP_112224.1	Q86WG5	MTMRD_HUMAN	SET binding factor 2	817					myelination	cytoplasm|membrane	phosphatase activity|protein binding			breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		GTAATGAACCGCACAACAGAA	0.423													59	107					0	0	1	0	0	A	9875174	G	A	9875174	3	1	81	1	0	0	0	0	1	0	0	0	13912	1086	38	1	3184	1	SBF2	11	9875174	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	420001	9875174	125131342	8411	12027											
SBF2	81846	broad.mit.edu	37	11	10024128	10024128	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:10024128G>T	ENST00000256190.8	-	7	865	c.728C>A	c.(727-729)tCt>tAt	p.S243Y	SBF2_ENST00000527019.1_5'UTR	NM_030962.3	NP_112224.1	Q86WG5	MTMRD_HUMAN	SET binding factor 2	243	DENN.				myelination	cytoplasm|membrane	phosphatase activity|protein binding			breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		AAACATTAAAGATTCCAGGGC	0.348													19	31					1.64113e-05	1.8403e-05	1	1	0	T	10024128	G	T	10024128	3	4	81	1	0	0	0	0	1	0	0	0	13912	942	33	4	4957	4	SBF2	11	10024128	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	148954	10024128	124982388	8412	12028											
AMPD3	272	broad.mit.edu	37	11	10516515	10516515	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:10516515C>T	ENST00000444303.2	+	7	1199	c.727C>T	c.(727-729)Cgt>Tgt	p.R243C	AMPD3_ENST00000396554.3_Missense_Mutation_p.R411C	NM_001172431.1	NP_001165902.1	Q01432	AMPD3_HUMAN	adenosine monophosphate deaminase 3	402					AMP catabolic process|purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(3)|skin(1)	25				all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291)		CAGTGAGCTGCGTGACCTGTA	0.532													71	86					0	0	1	0	0	T	10516515	C	T	10516515	3	4	81	1	0	0	0	0	1	0	0	0	583	768	27	1	1281	1	AMPD3	11	10516515	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	492387	10516515	124490001	8413	12029											
AMPD3	272	broad.mit.edu	37	11	10521710	10521710	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:10521710C>T	ENST00000444303.2	+	10	1630	c.1158C>T	c.(1156-1158)gaC>gaT	p.D386D	AMPD3_ENST00000530864.1_3'UTR|AMPD3_ENST00000396554.3_Silent_p.D554D	NM_001172431.1	NP_001165902.1	Q01432	AMPD3_HUMAN	adenosine monophosphate deaminase 3	545					AMP catabolic process|purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(3)|skin(1)	25				all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291)		CAAACCCGGACGTCTGGACCA	0.567													8	60					0	0	1	0	0	T	10521710	C	T	10521710	2	4	81	1	0	0	0	0	0	0	0	1	583	535	19	1		1	AMPD3	11	10521710	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	5195	10521710	124484806	8414	12030											
MRVI1	10335	broad.mit.edu	37	11	10597987	10597987	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:10597987A>G	ENST00000547195.1	-	20	2858	c.2358T>C	c.(2356-2358)tcT>tcC	p.S786S	MRVI1_ENST00000421747.1_Silent_p.S868S|MRVI1_ENST00000527509.2_Silent_p.S786S|MRVI1_ENST00000436272.1_Silent_p.S850S|MRVI1_ENST00000558540.1_Silent_p.S562S|MRVI1_ENST00000531107.1_Silent_p.S869S|MRVI1_ENST00000545852.1_Silent_p.S562S|MRVI1-AS1_ENST00000529829.1_RNA|MRVI1_ENST00000423302.2_Silent_p.S877S|LYVE1_ENST00000531706.1_Intron|MRVI1_ENST00000552103.1_Silent_p.S786S|MRVI1_ENST00000424001.1_Silent_p.S562S|MRVI1_ENST00000541483.1_Silent_p.S671S|MRVI1_ENST00000534266.2_Silent_p.S562S|MRVI1-AS1_ENST00000529979.1_RNA	NM_001100163.2|NM_001206881.1	NP_001093633.1|NP_001193810.1	Q9Y6F6	MRVI1_HUMAN	murine retrovirus integration site 1 homolog	850	Glu-rich.				platelet activation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)	22				all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)		GCTCTGCACAAGAGTTATAGG	0.552													34	40					0	0	1	0	0	G	10597987	A	G	10597987	2	3	81	1	0	0	0	0	0	0	0	1	9902	59	3	3		3	MRVI1	11	10597987	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	76277	10597987	124408529	8415	12031											
MRVI1	10335	broad.mit.edu	37	11	10615119	10615119	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:10615119C>T	ENST00000547195.1	-	16	2322	c.1822G>A	c.(1822-1824)Gct>Act	p.A608T	MRVI1_ENST00000421747.1_Missense_Mutation_p.A690T|MRVI1_ENST00000527509.2_Missense_Mutation_p.A608T|MRVI1_ENST00000436272.1_Missense_Mutation_p.A672T|MRVI1_ENST00000558540.1_Missense_Mutation_p.A384T|MRVI1_ENST00000531107.1_Missense_Mutation_p.A691T|MRVI1_ENST00000545852.1_Missense_Mutation_p.A384T|MRVI1-AS1_ENST00000529829.1_RNA|MRVI1_ENST00000423302.2_Missense_Mutation_p.A699T|LYVE1_ENST00000531706.1_Intron|MRVI1_ENST00000552103.1_Missense_Mutation_p.A608T|MRVI1_ENST00000424001.1_Missense_Mutation_p.A384T|MRVI1-AS1_ENST00000525578.1_RNA|MRVI1_ENST00000541483.1_Missense_Mutation_p.A493T|MRVI1_ENST00000534266.2_Missense_Mutation_p.A384T|MRVI1-AS1_ENST00000529979.1_RNA	NM_001100163.2|NM_001206881.1	NP_001093633.1|NP_001193810.1	Q9Y6F6	MRVI1_HUMAN	murine retrovirus integration site 1 homolog	672					platelet activation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)	22				all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)		GGAACCACAGCAACGCTGACC	0.517													23	31					0	0	1	0	0	T	10615119	C	T	10615119	3	4	81	1	0	0	0	0	1	0	0	0	9902	710	25	2	663	2	MRVI1	11	10615119	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	17132	10615119	124391397	8416	12032											
MRVI1	10335	broad.mit.edu	37	11	10673640	10673640	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:10673640T>C	ENST00000423302.2	-	2	306	c.157A>G	c.(157-159)Atg>Gtg	p.M53V	MRVI1_ENST00000421747.1_Missense_Mutation_p.M44V|MRVI1_ENST00000527509.2_Intron|MRVI1_ENST00000532037.1_5'UTR|MRVI1_ENST00000436272.1_Missense_Mutation_p.M44V|MRVI1_ENST00000558540.1_5'UTR|MRVI1_ENST00000531107.1_Missense_Mutation_p.M44V|MRVI1_ENST00000545852.1_5'UTR|MRVI1_ENST00000552103.1_5'UTR|MRVI1_ENST00000547195.1_Intron|MRVI1_ENST00000424001.1_5'UTR|MRVI1_ENST00000541483.1_Missense_Mutation_p.M53V|MRVI1_ENST00000534266.2_5'UTR	NM_001206880.1|NM_130385.3	NP_001193809.1|NP_569056.4	Q9Y6F6	MRVI1_HUMAN	murine retrovirus integration site 1 homolog	44					platelet activation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)	22				all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)		ATGTGGGGCATGGCAGCCTCC	0.687													8	10					0	0	1	0	0	C	10673640	T	C	10673640	3	2	81	1	0	0	0	0	1	0	0	0	9902	1464	51	3	2661	3	MRVI1	11	10673640	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	58521	10673640	124332876	8417	12033											
CTR9	9646	broad.mit.edu	37	11	10777339	10777339	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:10777339C>A	ENST00000361367.2	+	4	925	c.499C>A	c.(499-501)Ctt>Att	p.L167I		NM_014633.3	NP_055448.1	Q6PD62	CTR9_HUMAN	CTR9, Paf1/RNA polymerase II complex component	167					histone H2B ubiquitination|histone monoubiquitination	Cdc73/Paf1 complex|nuclear speck				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|pancreas(1)|stomach(1)	40				all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		TCCAGCCCTTCTTGGTAAGTG	0.398													9	96					0.00829132	0.00865729	1	1	0	A	10777339	C	A	10777339	3	1	81	1	0	0	0	0	1	0	0	0	4048	913	32	4	513	4	CTR9	11	10777339	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	103699	10777339	124229177	8418	12034											
EIF4G2	1982	broad.mit.edu	37	11	10820605	10820605	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:10820605T>C	ENST00000526148.1	-	21	3102	c.2592A>G	c.(2590-2592)gaA>gaG	p.E864E	EIF4G2_ENST00000339995.5_Silent_p.E864E|RP11-685M7.5_ENST00000532365.1_RNA|EIF4G2_ENST00000396525.2_Silent_p.E826E|EIF4G2_ENST00000525681.1_Silent_p.E864E	NM_001172705.1	NP_001166176	P78344	IF4G2_HUMAN	eukaryotic translation initiation factor 4 gamma, 2	864	W2.				cell cycle arrest|cell death|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	43				all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		CCAAGAAAGCTTCTTCTTCAA	0.328													62	77					0	0	1	0	0	C	10820605	T	C	10820605	2	2	81	1	0	0	0	0	0	0	0	1	5065	1606	56	3		3	EIF4G2	11	10820605	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	43266	10820605	124185911	8419	12035											
EIF4G2	1982	broad.mit.edu	37	11	10824815	10824815	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:10824815T>C	ENST00000526148.1	-	10	1350	c.840A>G	c.(838-840)cgA>cgG	p.R280R	EIF4G2_ENST00000339995.5_Silent_p.R280R|EIF4G2_ENST00000396525.2_Silent_p.R280R|EIF4G2_ENST00000525681.1_Silent_p.R280R	NM_001172705.1	NP_001166176	P78344	IF4G2_HUMAN	eukaryotic translation initiation factor 4 gamma, 2	280	MIF4G.				cell cycle arrest|cell death|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	43				all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		AGGAGCACATTCGGGCAAAGT	0.368													3	40					0	0	1	0	0	C	10824815	T	C	10824815	2	2	81	1	0	0	0	0	0	0	0	1	5065	1770	62	3		3	EIF4G2	11	10824815	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	4210	10824815	124181701	8420	12036	53	2									
EIF4G2	1982	broad.mit.edu	37	11	10824816	10824816	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:10824816C>T	ENST00000526148.1	-	10	1349	c.839G>A	c.(838-840)cGa>cAa	p.R280Q	EIF4G2_ENST00000339995.5_Missense_Mutation_p.R280Q|EIF4G2_ENST00000396525.2_Missense_Mutation_p.R280Q|EIF4G2_ENST00000525681.1_Missense_Mutation_p.R280Q	NM_001172705.1	NP_001166176	P78344	IF4G2_HUMAN	eukaryotic translation initiation factor 4 gamma, 2	280	MIF4G.				cell cycle arrest|cell death|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	43				all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		GGAGCACATTCGGGCAAAGTA	0.363													10	32					0	0	1	0	0	T	10824816	C	T	10824816	3	4	81	1	0	0	0	0	1	0	0	0	5065	884	31	1	1936	1	EIF4G2	11	10824816	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1	10824816	124181700	8421	12037	53	2									
MICAL2	9645	broad.mit.edu	37	11	12248580	12248580	+	Missense_Mutation	SNP	C	C	T	rs139751583	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:12248580C>T	ENST00000256194.4	+	15	2185	c.1897C>T	c.(1897-1899)Cgc>Tgc	p.R633C	MICAL2_ENST00000342902.5_Missense_Mutation_p.R633C|MICAL2_ENST00000527546.1_Missense_Mutation_p.R633C|MICAL2_ENST00000537344.1_Missense_Mutation_p.R633C|MICAL2_ENST00000379612.3_Missense_Mutation_p.R633C	NM_001282663.1|NM_014632.2	NP_001269592.1|NP_055447.1	O94851	MICA2_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 2	633						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		AGATTCTTGGCGCAAAAACTA	0.468													27	36					0	0	1	0	0	T	12248580	C	T	12248580	3	4	81	1	0	0	0	0	1	0	0	0	9618	768	27	1	1947	1	MICAL2	11	12248580	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1423764	12248580	122757936	8422	12038											
MICAL2	9645	broad.mit.edu	37	11	12278494	12278494	+	Missense_Mutation	SNP	G	G	A	rs61729668	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:12278494G>A	ENST00000256194.4	+	24	3406	c.3118G>A	c.(3118-3120)Gcc>Acc	p.A1040T	MICAL2_ENST00000342902.5_Missense_Mutation_p.A1019T|MICAL2_ENST00000527546.1_Missense_Mutation_p.A850T|MICAL2_ENST00000537344.1_Missense_Mutation_p.A850T|MICAL2_ENST00000379612.3_Missense_Mutation_p.A814T	NM_001282663.1|NM_014632.2	NP_001269592.1|NP_055447.1	O94851	MICA2_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 2	1040	LIM zinc-binding.					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		GCGCCTGGCCGCCTACACCTT	0.632													18	29					0	0	1	0	0	A	12278494	G	A	12278494	3	1	81	1	0	0	0	0	1	0	0	0	9618	1087	38	1	3204	1	MICAL2	11	12278494	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	29914	12278494	122728022	8423	12039											
MICALCL	84953	broad.mit.edu	37	11	12316328	12316328	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:12316328C>A	ENST00000256186.2	+	3	1641	c.1350C>A	c.(1348-1350)acC>acA	p.T450T		NM_032867.2	NP_116256.2	Q6ZW33	MICLK_HUMAN	MICAL C-terminal like	450					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	mitogen-activated protein kinase binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	30				Epithelial(150;0.00177)		TCAAAAGCACCTCCCTGCGCC	0.597													12	42					3.07112e-06	3.5041e-06	1	1	0	A	12316328	C	A	12316328	2	1	81	1	0	0	0	0	0	0	0	1	9620	668	24	4		4	MICALCL	11	12316328	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	37834	12316328	122690188	8424	12040											
PARVA	55742	broad.mit.edu	37	11	12518085	12518085	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:12518085C>A	ENST00000334956.8	+	5	944	c.601C>A	c.(601-603)Ctg>Atg	p.L201M	PARVA_ENST00000550549.1_Missense_Mutation_p.L161M|PARVA_ENST00000539723.1_Missense_Mutation_p.L161M|PARVA_ENST00000538608.1_Missense_Mutation_p.L108M	NM_018222.4	NP_060692.2	Q9NVD7	PARVA_HUMAN	parvin, alpha	161	CH 1.				cell adhesion|cell junction assembly|cilium morphogenesis	actin cytoskeleton|cytosol|focal adhesion	actin binding			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)	11				Epithelial(150;0.00624)		GCAGACTGTCCTGGAGAAGAT	0.468													6	10					0.217242	0.218703	1	1	0	A	12518085	C	A	12518085	3	1	81	1	0	0	0	0	1	0	0	0	11515	680	24	4	499	4	PARVA	11	12518085	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	201757	12518085	122488431	8425	12041											
TEAD1	7003	broad.mit.edu	37	11	12901223	12901223	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:12901223T>C	ENST00000526600.1	+	1	234	c.11T>C	c.(10-12)gTa>gCa	p.V4A	TEAD1_ENST00000334310.6_Intron|TEAD1_ENST00000527636.1_Intron|TEAD1_ENST00000361905.4_Intron|TEAD1_ENST00000361985.2_Intron|TEAD1_ENST00000527575.1_Intron			P28347	TEAD1_HUMAN	TEA domain family member 1 (SV40 transcriptional enhancer factor)	0					hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)	17				Epithelial(150;0.00223)|BRCA - Breast invasive adenocarcinoma(625;0.236)		ATGCGTTATGTATTAAGTTGG	0.507													13	26					0	0	1	0	0	C	12901223	T	C	12901223	3	2	81	1	0	0	0	0	1	0	0	0	15797	1653	57	3		3	TEAD1	11	12901223	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	383138	12901223	122105293	8426	12042											
TEAD1	7003	broad.mit.edu	37	11	12904597	12904597	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:12904597T>C	ENST00000361905.4	+	9	1244	c.579T>C	c.(577-579)ggT>ggC	p.G193G	TEAD1_ENST00000334310.6_Silent_p.G197G|TEAD1_ENST00000527636.1_Silent_p.G208G|TEAD1_ENST00000526600.1_Silent_p.G112G|TEAD1_ENST00000361985.2_Silent_p.G208G|TEAD1_ENST00000527575.1_Silent_p.G208G	NM_021961.5	NP_068780.2	P28347	TEAD1_HUMAN	TEA domain family member 1 (SV40 transcriptional enhancer factor)	208	Pro-rich.|Transcriptional activation (Potential).				hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)	17				Epithelial(150;0.00223)|BRCA - Breast invasive adenocarcinoma(625;0.236)		CCTGGCAAGGTCGCTCCATTG	0.587													26	54					0	0	1	0	0	C	12904597	T	C	12904597	2	2	81	1	0	0	0	0	0	0	0	1	15797	1654	58	3		3	TEAD1	11	12904597	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	3374	12904597	122101919	8427	12043	54	2									
TEAD1	7003	broad.mit.edu	37	11	12904600	12904600	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:12904600C>T	ENST00000361905.4	+	9	1247	c.582C>T	c.(580-582)cgC>cgT	p.R194R	TEAD1_ENST00000334310.6_Silent_p.R198R|TEAD1_ENST00000527636.1_Silent_p.R209R|TEAD1_ENST00000526600.1_Silent_p.R113R|TEAD1_ENST00000361985.2_Silent_p.R209R|TEAD1_ENST00000527575.1_Silent_p.R209R	NM_021961.5	NP_068780.2	P28347	TEAD1_HUMAN	TEA domain family member 1 (SV40 transcriptional enhancer factor)	209	Pro-rich.|Transcriptional activation (Potential).				hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)	17				Epithelial(150;0.00223)|BRCA - Breast invasive adenocarcinoma(625;0.236)		GGCAAGGTCGCTCCATTGGCA	0.577													28	59					0	0	1	0	0	T	12904600	C	T	12904600	2	4	81	1	0	0	0	0	0	0	0	1	15797	784	28	2		2	TEAD1	11	12904600	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3	12904600	122101916	8428	12044	54	2									
TEAD1	7003	broad.mit.edu	37	11	12923603	12923603	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:12923603C>A	ENST00000361905.4	+	10	1436	c.771C>A	c.(769-771)ggC>ggA	p.G257G	TEAD1_ENST00000334310.6_Intron|TEAD1_ENST00000527636.1_Silent_p.G272G|TEAD1_ENST00000526600.1_Silent_p.G176G|TEAD1_ENST00000361985.2_Silent_p.G272G|TEAD1_ENST00000527575.1_Intron	NM_021961.5	NP_068780.2	P28347	TEAD1_HUMAN	TEA domain family member 1 (SV40 transcriptional enhancer factor)	272	Transcriptional activation (Potential).				hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)	17				Epithelial(150;0.00223)|BRCA - Breast invasive adenocarcinoma(625;0.236)		AGAAAGGTGGCTTAAAGGAAC	0.423													20	214					0.000132079	0.000145003	1	1	0	A	12923603	C	A	12923603	2	1	81	1	0	0	0	0	0	0	0	1	15797	784	28	4		4	TEAD1	11	12923603	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	19003	12923603	122082913	8429	12045											
TEAD1	7003	broad.mit.edu	37	11	12923629	12923629	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:12923629C>A	ENST00000361905.4	+	10	1462	c.797C>A	c.(796-798)cCt>cAt	p.P266H	TEAD1_ENST00000334310.6_Intron|TEAD1_ENST00000527636.1_Missense_Mutation_p.P281H|TEAD1_ENST00000526600.1_Missense_Mutation_p.P185H|TEAD1_ENST00000361985.2_Missense_Mutation_p.P281H|TEAD1_ENST00000527575.1_Intron	NM_021961.5	NP_068780.2	P28347	TEAD1_HUMAN	TEA domain family member 1 (SV40 transcriptional enhancer factor)	281	Transcriptional activation (Potential).				hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)	17				Epithelial(150;0.00223)|BRCA - Breast invasive adenocarcinoma(625;0.236)		GGAAAGGGCCCTCAAAATGCC	0.413													16	213					3.52763e-06	4.02143e-06	1	1	0	A	12923629	C	A	12923629	3	1	81	1	0	0	0	0	1	0	0	0	15797	681	24	4	872	4	TEAD1	11	12923629	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	26	12923629	122082887	8430	12046											
BTBD10	84280	broad.mit.edu	37	11	13424821	13424821	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:13424821A>C	ENST00000278174.5	-	8	1256	c.1011T>G	c.(1009-1011)atT>atG	p.I337M	BTBD10_ENST00000528120.1_Missense_Mutation_p.I289M|BTBD10_ENST00000530907.1_Missense_Mutation_p.I345M	NM_032320.5	NP_115696.2	Q9BSF8	BTBDA_HUMAN	BTB (POZ) domain containing 10	337						nucleus				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|prostate(1)	20				Epithelial(150;0.0214)		TTGTGCTATAAATAACTAGAA	0.294													8	82					0	0	1	0	0	C	13424821	A	C	13424821	3	2	81	1	0	0	0	0	1	0	0	0	1540	10	1	5	424	5	BTBD10	11	13424821	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	501192	13424821	121581695	8431	12047											
PTH	5741	broad.mit.edu	37	11	13514211	13514211	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:13514211T>G	ENST00000282091.1	-	3	203	c.89A>C	c.(88-90)aAg>aCg	p.K30T	PTH_ENST00000529816.1_Missense_Mutation_p.K30T	NM_000315.2	NP_000306.1	P01270	PTHY_HUMAN	parathyroid hormone	30					bone resorption|cAMP metabolic process|cell-cell signaling|cellular calcium ion homeostasis|cellular macromolecule biosynthetic process|induction of apoptosis by hormones|positive regulation of cAMP biosynthetic process|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|skeletal system development		hormone activity|peptide hormone receptor binding			endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	10				BRCA - Breast invasive adenocarcinoma(625;0.00116)|Epithelial(150;0.0357)|LUSC - Lung squamous cell carcinoma(625;0.0836)		CACAGATCTCTTCCTGGGAAG	0.438													4	66					0	0	1	0	0	G	13514211	T	G	13514211	3	3	81	1	0	0	0	0	1	0	0	0	12807	1609	56	5	262	5	PTH	11	13514211	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	89390	13514211	121492305	8432	12048											
FAR1	84188	broad.mit.edu	37	11	13743357	13743357	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:13743357C>T	ENST00000532502.1	+	1	1908	c.80C>T	c.(79-81)aCt>aTt	p.T27I	FAR1_ENST00000354817.3_Missense_Mutation_p.T403I			Q8WVX9	FACR1_HUMAN	fatty acyl CoA reductase 1	403					ether lipid biosynthetic process	integral to membrane|peroxisomal matrix|peroxisomal membrane	protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	13						GTTTGGAATACTGAGAATGTC	0.294													20	31					0	0	1	0	0	T	13743357	C	T	13743357	3	4	81	1	0	0	0	0	1	0	0	0	5707	565	20	2	1242	2	FAR1	11	13743357	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	229146	13743357	121263159	8433	12049											
COPB1	1315	broad.mit.edu	37	11	14490987	14490987	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:14490987C>G	ENST00000249923.3	-	15	2160	c.1860G>C	c.(1858-1860)ttG>ttC	p.L620F	COPB1_ENST00000439561.2_Missense_Mutation_p.L620F	NM_016451.4	NP_057535.1	P53618	COPB_HUMAN	coatomer protein complex, subunit beta 1	620					COPI coating of Golgi vesicle|interspecies interaction between organisms|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|ER-Golgi intermediate compartment|plasma membrane	protein binding|structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	36						AACATTCAGACAAGACCTTGA	0.398													19	122					0	0	1	0	0	G	14490987	C	G	14490987	3	3	81	1	0	0	0	0	1	0	0	0	3751	477	17	5	1033	5	COPB1	11	14490987	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	747630	14490987	120515529	8434	12050											
PSMA1	5682	broad.mit.edu	37	11	14529285	14529285	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:14529285C>A	ENST00000530457.1	-	9	1107	c.577G>T	c.(577-579)Gac>Tac	p.D193Y	PSMA1_ENST00000418988.2_Missense_Mutation_p.D224Y|PSMA1_ENST00000419365.2_3'UTR|PSMA1_ENST00000396394.2_Missense_Mutation_p.D218Y|PSMA1_ENST00000524606.1_5'UTR|PSMA1_ENST00000555531.1_3'UTR|PSMA1_ENST00000396393.1_Missense_Mutation_p.D218Y			P25786	PSA1_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 1	218					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|polysome|proteasome core complex, alpha-subunit complex	protein binding|RNA binding|threonine-type endopeptidase activity			large_intestine(1)|skin(1)|upper_aerodigestive_tract(1)	3						AACTCCAAGTCTTTACCAACA	0.333													30	55					1.08312e-15	1.38358e-15	1	1	0	A	14529285	C	A	14529285	3	1	81	1	0	0	0	0	1	0	0	0	12715	913	32	4	147	4	PSMA1	11	14529285	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	38298	14529285	120477231	8435	12051											
PDE3B	5140	broad.mit.edu	37	11	14852272	14852272	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:14852272A>G	ENST00000282096.4	+	8	2189	c.1836A>G	c.(1834-1836)gaA>gaG	p.E612E	PDE3B_ENST00000455098.2_Silent_p.E561E	NM_000922.3	NP_000913.2	Q13370	PDE3B_HUMAN	phosphodiesterase 3B, cGMP-inhibited	612					cAMP catabolic process|insulin receptor signaling pathway|negative regulation of lipid catabolic process|platelet activation	cytosol|endoplasmic reticulum|Golgi apparatus|guanyl-nucleotide exchange factor complex|integral to membrane|microsome	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding|protein kinase B binding			NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						TCTCGAAAGAATCATTCAAAC	0.318													17	17					0	0	1	0	0	G	14852272	A	G	14852272	2	3	81	1	0	0	0	0	0	0	0	1	11685	98	4	3		3	PDE3B	11	14852272	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	322987	14852272	120154244	8436	12052											
CALCA	796	broad.mit.edu	37	11	14990358	14990358	+	Missense_Mutation	SNP	T	T	C	rs13306224	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:14990358T>C	ENST00000331587.4	-	4	531	c.413A>G	c.(412-414)cAg>cGg	p.Q138R	CALCA_ENST00000486207.1_Intron|CALCA_ENST00000361010.3_Intron|CALCA_ENST00000396372.2_Missense_Mutation_p.Q138R|CALCA_ENST00000359642.3_Intron|CALCB_ENST00000523376.1_Intron	NM_001741.2	NP_001732.1	P06881	CALCA_HUMAN	calcitonin-related polypeptide alpha	0					activation of adenylate cyclase activity|cell-cell signaling|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|endothelial cell migration|endothelial cell proliferation|leukocyte cell-cell adhesion|negative regulation of blood pressure|negative regulation of bone resorption|negative regulation of calcium ion transport into cytosol|negative regulation of osteoclast differentiation|neurological system process involved in regulation of systemic arterial blood pressure|positive regulation of interleukin-1 alpha production|positive regulation of interleukin-8 production|positive regulation of macrophage differentiation|positive regulation of vasodilation|regulation of blood pressure|vasculature development|vasodilation	cytosol|extracellular space	hormone activity			central_nervous_system(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	8					Phentolamine(DB00692)	GTTGGCATTCTGGGGCATGCT	0.493													8	164					0	0	1	0	0	C	14990358	T	C	14990358	3	2	81	1	0	0	0	0	1	0	0	0	2593	1580	55	3	180	3	CALCA	11	14990358	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	138086	14990358	120016158	8437	12053											
CALCB	797	broad.mit.edu	37	11	15098968	15098968	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:15098968C>T	ENST00000523376.1	+	9	1656	c.394C>T	c.(394-396)Cgc>Tgc	p.R132C	CALCB_ENST00000324229.6_Missense_Mutation_p.R121C|CALCB_ENST00000533448.1_Missense_Mutation_p.R121C			P10092	CALCB_HUMAN	calcitonin-related polypeptide beta	121					cellular calcium ion homeostasis|signal transduction|vasodilation	extracellular region|soluble fraction	neuropeptide hormone activity			endometrium(1)|large_intestine(1)|lung(1)|skin(2)	5						CTTTGGCAGGCGCCGCAGGGA	0.542													11	18					0	0	1	0	0	T	15098968	C	T	15098968	3	4	81	1	0	0	0	0	1	0	0	0	2594	768	27	1	371	1	CALCB	11	15098968	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	108610	15098968	119907548	8438	12054											
INSC	387755	broad.mit.edu	37	11	15170751	15170751	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:15170751G>A	ENST00000379554.3	+	2	218	c.172G>A	c.(172-174)Gac>Aac	p.D58N	INSC_ENST00000379556.3_Missense_Mutation_p.D11N|INSC_ENST00000530161.1_Missense_Mutation_p.D11N|INSC_ENST00000525218.1_Missense_Mutation_p.D11N|INSC_ENST00000528567.1_Missense_Mutation_p.D11N|INSC_ENST00000424273.1_Missense_Mutation_p.D11N	NM_001031853.3	NP_001027024.3	Q1MX18	INSC_HUMAN	inscuteable homolog (Drosophila)	58					cell differentiation|nervous system development	cytoplasm	binding			NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(3)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						TCGCCACCTGGACTCCGTCAC	0.607													10	22					0	0	1	0	0	A	15170751	G	A	15170751	3	1	81	1	0	0	0	0	1	0	0	0	7808	1174	41	2	178	2	INSC	11	15170751	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	71783	15170751	119835765	8439	12055											
SOX6	55553	broad.mit.edu	37	11	16007927	16007927	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:16007927G>T	ENST00000352083.6	-	15	2083	c.2006C>A	c.(2005-2007)cCt>cAt	p.P669H	SOX6_ENST00000528429.1_Missense_Mutation_p.P669H|SOX6_ENST00000527619.1_Missense_Mutation_p.P645H|SOX6_ENST00000316399.6_Missense_Mutation_p.P649H|SOX6_ENST00000396356.3_Missense_Mutation_p.P649H|SOX6_ENST00000528252.1_Missense_Mutation_p.P642H			P35712	SOX6_HUMAN	SRY (sex determining region Y)-box 6	669					muscle organ development	nucleus	sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|pancreas(1)|prostate(2)	43						TTCATAATAAGGTTGCTTCTC	0.443													43	57					3.70713e-34	4.95963e-34	1	1	0	T	16007927	G	T	16007927	3	4	81	1	0	0	0	0	1	0	0	0	15009	1000	35	4	488	4	SOX6	11	16007927	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	837176	16007927	118998589	8440	12056											
SOX6	55553	broad.mit.edu	37	11	16340160	16340160	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:16340160G>A	ENST00000352083.6	-	3	354	c.277C>T	c.(277-279)Cga>Tga	p.R93*	SOX6_ENST00000528429.1_Nonsense_Mutation_p.R93*|SOX6_ENST00000527619.1_Nonsense_Mutation_p.R96*|SOX6_ENST00000316399.6_Nonsense_Mutation_p.R93*|SOX6_ENST00000396356.3_Nonsense_Mutation_p.R93*|SOX6_ENST00000533658.1_5'UTR|SOX6_ENST00000528252.1_Nonsense_Mutation_p.R93*			P35712	SOX6_HUMAN	SRY (sex determining region Y)-box 6	93					muscle organ development	nucleus	sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|pancreas(1)|prostate(2)	43						GAGGTATTTCGGAAGGAATAT	0.408													13	129					0	0	1	0	0	A	16340160	G	A	16340160	4	1	81	1	0	0	0	0	0	1	0	0	15009	1124	39	1	2307	1	SOX6	11	16340160	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	332233	16340160	118666356	8441	12057											
PLEKHA7	144100	broad.mit.edu	37	11	16837804	16837804	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:16837804G>A	ENST00000355661.3	-	12	1884	c.1874C>T	c.(1873-1875)tCt>tTt	p.S625F	PLEKHA7_ENST00000532079.1_Intron|PLEKHA7_ENST00000448080.2_Missense_Mutation_p.S625F|PLEKHA7_ENST00000531066.1_Missense_Mutation_p.S625F			Q6IQ23	PKHA7_HUMAN	pleckstrin homology domain containing, family A member 7	625	Interaction with CTNND1.				epithelial cell-cell adhesion|zonula adherens maintenance	centrosome|zonula adherens	delta-catenin binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						GTCCACATGAGATGAGTTCTG	0.567													9	19					0	0	1	0	0	A	16837804	G	A	16837804	3	1	81	1	0	0	0	0	1	0	0	0	12109	942	33	2	1539	2	PLEKHA7	11	16837804	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	497644	16837804	118168712	8442	12058											
PLEKHA7	144100	broad.mit.edu	37	11	16838749	16838749	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:16838749G>A	ENST00000355661.3	-	11	1474	c.1464C>T	c.(1462-1464)ccC>ccT	p.P488P	PLEKHA7_ENST00000532079.1_Intron|PLEKHA7_ENST00000448080.2_Silent_p.P488P|PLEKHA7_ENST00000531066.1_Silent_p.P488P			Q6IQ23	PKHA7_HUMAN	pleckstrin homology domain containing, family A member 7	488					epithelial cell-cell adhesion|zonula adherens maintenance	centrosome|zonula adherens	delta-catenin binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						GCAGGTTTCGGGGAGGTGGCG	0.637													34	65					0	0	1	0	0	A	16838749	G	A	16838749	2	1	81	1	0	0	0	0	0	0	0	1	12109	1219	43	2		2	PLEKHA7	11	16838749	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	945	16838749	118167767	8443	12059											
PIK3C2A	5286	broad.mit.edu	37	11	17113777	17113777	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:17113777C>T	ENST00000265970.7	-	28	4497	c.4498G>A	c.(4498-4500)Gca>Aca	p.A1500T	PIK3C2A_ENST00000531428.1_5'UTR|PIK3C2A_ENST00000540361.1_Missense_Mutation_p.A1120T	NM_002645.2	NP_002636.2	O00443	P3C2A_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	1500	PX.				cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling	clathrin-coated vesicle|Golgi apparatus|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58					Phosphatidylserine(DB00144)	CTTTTGGCTGCTACATCTTTT	0.323													19	24					0	0	1	0	0	T	17113777	C	T	17113777	3	4	81	1	0	0	0	0	1	0	0	0	11957	797	28	2	582	2	PIK3C2A	11	17113777	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	275028	17113777	117892739	8444	12060											
PIK3C2A	5286	broad.mit.edu	37	11	17122851	17122851	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:17122851T>G	ENST00000265970.7	-	24	3981	c.3982A>C	c.(3982-3984)Aac>Cac	p.N1328H	PIK3C2A_ENST00000531428.1_Intron|PIK3C2A_ENST00000540361.1_Missense_Mutation_p.N948H	NM_002645.2	NP_002636.2	O00443	P3C2A_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	1328	PI3K/PI4K.				cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling	clathrin-coated vesicle|Golgi apparatus|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58					Phosphatidylserine(DB00144)	AGAAAAAGGTTTGTCTGCTTT	0.338													5	99					0	0	1	0	0	G	17122851	T	G	17122851	3	3	81	1	0	0	0	0	1	0	0	0	11957	1841	64	5	1114	5	PIK3C2A	11	17122851	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	9074	17122851	117883665	8445	12061											
PIK3C2A	5286	broad.mit.edu	37	11	17158125	17158125	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:17158125G>T	ENST00000265970.7	-	8	1751	c.1752C>A	c.(1750-1752)atC>atA	p.I584I	PIK3C2A_ENST00000531428.1_Intron|PIK3C2A_ENST00000540361.1_Silent_p.I204I	NM_002645.2	NP_002636.2	O00443	P3C2A_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	584					cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling	clathrin-coated vesicle|Golgi apparatus|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58					Phosphatidylserine(DB00144)	AAGCACTACAGATTTTTCTTA	0.333													52	65					1.72845e-40	2.32116e-40	1	1	0	T	17158125	G	T	17158125	2	4	81	1	0	0	0	0	0	0	0	1	11957	932	33	4		4	PIK3C2A	11	17158125	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	35274	17158125	117848391	8446	12062											
PIK3C2A	5286	broad.mit.edu	37	11	17190742	17190742	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:17190742C>A	ENST00000265970.7	-	1	546	c.547G>T	c.(547-549)Gaa>Taa	p.E183*	PIK3C2A_ENST00000540361.1_Intron|PIK3C2A_ENST00000531428.1_Intron	NM_002645.2	NP_002636.2	O00443	P3C2A_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	183					cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling	clathrin-coated vesicle|Golgi apparatus|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58					Phosphatidylserine(DB00144)	TATATAGGTTCTGTAGATGGA	0.398													38	66					2.40579e-17	3.1027e-17	1	1	0	A	17190742	C	A	17190742	4	1	81	1	0	0	0	0	0	1	0	0	11957	922	32	4	4641	4	PIK3C2A	11	17190742	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	32617	17190742	117815774	8447	12063											
PIK3C2A	5286	broad.mit.edu	37	11	17190992	17190992	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:17190992T>C	ENST00000265970.7	-	1	296	c.297A>G	c.(295-297)gaA>gaG	p.E99E	PIK3C2A_ENST00000540361.1_Intron|PIK3C2A_ENST00000531428.1_Intron	NM_002645.2	NP_002636.2	O00443	P3C2A_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	99	Interaction with clathrin.				cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling	clathrin-coated vesicle|Golgi apparatus|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58					Phosphatidylserine(DB00144)	GTTTCTCAAGTTCAGCTTGGG	0.383													11	170					0	0	1	0	0	C	17190992	T	C	17190992	2	2	81	1	0	0	0	0	0	0	0	1	11957	1722	60	3		3	PIK3C2A	11	17190992	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	250	17190992	117815524	8448	12064											
NUCB2	4925	broad.mit.edu	37	11	17317743	17317743	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:17317743C>T	ENST00000529010.1	+	4	456	c.237C>T	c.(235-237)gaC>gaT	p.D79D	NUCB2_ENST00000323688.6_Silent_p.D79D|NUCB2_ENST00000458064.2_Silent_p.D79D	NM_005013.2	NP_005004	P80303	NUCB2_HUMAN	nucleobindin 2	79						cytosol|ER-Golgi intermediate compartment|extracellular space|Golgi apparatus|plasma membrane	calcium ion binding|DNA binding			kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						AGAAAGCAGACATAGAGGAAA	0.308													5	40					0	0	1	0	0	T	17317743	C	T	17317743	2	4	81	1	0	0	0	0	0	0	0	1	10767	477	17	2		2	NUCB2	11	17317743	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	126751	17317743	117688773	8449	12065											
NUCB2	4925	broad.mit.edu	37	11	17323300	17323300	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:17323300C>T	ENST00000529010.1	+	5	481	c.262C>T	c.(262-264)Cta>Tta	p.L88L	NUCB2_ENST00000323688.6_Silent_p.L88L|NUCB2_ENST00000458064.2_Silent_p.L88L	NM_005013.2	NP_005004	P80303	NUCB2_HUMAN	nucleobindin 2	88						cytosol|ER-Golgi intermediate compartment|extracellular space|Golgi apparatus|plasma membrane	calcium ion binding|DNA binding			kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						GAGTGGGAGGCTAAGCAAAGA	0.323													25	47					0	0	1	0	0	T	17323300	C	T	17323300	2	4	81	1	0	0	0	0	0	0	0	1	10767	796	28	2		2	NUCB2	11	17323300	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	5557	17323300	117683216	8450	12066											
KCNJ11	3767	broad.mit.edu	37	11	17409205	17409205	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:17409205G>T	ENST00000339994.4	-	1	1001	c.434C>A	c.(433-435)gCc>gAc	p.A145D	KCNJ11_ENST00000528731.1_Missense_Mutation_p.A58D	NM_000525.3	NP_000516.3	B4DWI4	B4DWI4_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 11	58						integral to membrane	ATP-activated inward rectifier potassium channel activity			endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(3)|skin(2)	16				READ - Rectum adenocarcinoma(2;0.0276)|Colorectal(2;0.0633)		GATCAGGATGGCCAGTGGGCA	0.562											OREG0020810	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	25					0.00024832	0.000269806	1	1	0	T	17409205	G	T	17409205	3	4	81	1	0	0	0	0	1	0	0	0	8089	1203	42	5	742	5	KCNJ11	11	17409205	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	85905	17409205	117597311	8451	12067											
ABCC8	6833	broad.mit.edu	37	11	17414591	17414591	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:17414591G>T	ENST00000302539.4	-	39	4821	c.4696C>A	c.(4696-4698)Ctg>Atg	p.L1566M	ABCC8_ENST00000389817.3_Missense_Mutation_p.L1565M	NM_000352.3	NP_000343.2	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	1565	ABC transporter 2.				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	CGGCTGAGCAGCTTCTCTGGC	0.607													10	62					5.16669e-11	6.3748e-11	1	1	0	T	17414591	G	T	17414591	3	4	81	1	0	0	0	0	1	0	0	0	58	962	34	4	56	4	ABCC8	11	17414591	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	5386	17414591	117591925	8452	12068											
ABCC8	6833	broad.mit.edu	37	11	17429002	17429003	+	Splice_Site	INS	-	-	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:17429002_17429003insA	ENST00000302539.4	-	24	2949		c.e24-2		ABCC8_ENST00000389817.3_Splice_Site	NM_000352.3	NP_000343.2	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8						carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	GACAGTCTCCTAAAAGACAGAT	0.52													27	40	---	---	---	---						A	17429003	-	A	17429002	8	5	81	1	0	1	1	0	0	0	1	0	58	1536	53	0	1990	0	ABCC8	11	17429002	Splice_Site	INS	-	TCGA-DU-6392-01A-11D-1705-08	14411	17429002	117577514	8453	12069											
ABCC8	6833	broad.mit.edu	37	11	17452370	17452370	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:17452370G>T	ENST00000302539.4	-	12	1933	c.1808C>A	c.(1807-1809)gCt>gAt	p.A603D	ABCC8_ENST00000528202.1_5'UTR|ABCC8_ENST00000389817.3_Missense_Mutation_p.A603D	NM_000352.3	NP_000343.2	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	603					carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	CCTCACTAGAGCTTTGACGGT	0.602													60	132					2.66076e-39	3.57159e-39	1	1	0	T	17452370	G	T	17452370	3	4	81	1	0	0	0	0	1	0	0	0	58	971	34	4	3049	4	ABCC8	11	17452370	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	23368	17452370	117554146	8454	12070											
ABCC8	6833	broad.mit.edu	37	11	17464855	17464855	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:17464855A>G	ENST00000302539.4	-	9	1462	c.1337T>C	c.(1336-1338)aTt>aCt	p.I446T	ABCC8_ENST00000389817.3_Missense_Mutation_p.I446T	NM_000352.3	NP_000343.2	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	446	ABC transmembrane type-1 1.				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	CACACCCACAATGATCTGAGG	0.542													3	43					0	0	1	0	0	G	17464855	A	G	17464855	3	3	81	1	0	0	0	0	1	0	0	0	58	101	4	3	3532	3	ABCC8	11	17464855	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	12485	17464855	117541661	8455	12071											
ABCC8	6833	broad.mit.edu	37	11	17470208	17470208	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:17470208T>C	ENST00000302539.4	-	8	1312	c.1187A>G	c.(1186-1188)tAc>tGc	p.Y396C	ABCC8_ENST00000389817.3_Missense_Mutation_p.Y396C	NM_000352.3	NP_000343.2	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	396	ABC transmembrane type-1 1.				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	AATTTTATTGTAAATCTTGGT	0.458													56	71					0	0	1	0	0	C	17470208	T	C	17470208	3	2	81	1	0	0	0	0	1	0	0	0	58	1638	57	3	3686	3	ABCC8	11	17470208	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	5353	17470208	117536308	8456	12072											
USH1C	10083	broad.mit.edu	37	11	17544785	17544785	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:17544785G>A	ENST00000005226.7	-	11	848	c.849C>T	c.(847-849)agC>agT	p.S283S	USH1C_ENST00000527720.1_Silent_p.S252S|USH1C_ENST00000318024.4_Silent_p.S283S|USH1C_ENST00000527020.1_Intron	NM_153676.3	NP_710142.1	Q9Y6N9	USH1C_HUMAN	Usher syndrome 1C (autosomal recessive, severe)	283	PDZ 2.				equilibrioception|G2/M transition of mitotic cell cycle|photoreceptor cell maintenance|sensory perception of sound	apical part of cell|cytoplasm|stereocilium	protein binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						AGATGGTCAGGCTGCGGCTAC	0.582													57	73					0	0	1	0	0	A	17544785	G	A	17544785	2	1	81	1	0	0	0	0	0	0	0	1	17094	1194	42	2		2	USH1C	11	17544785	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	74577	17544785	117461731	8457	12073											
KCNC1	3746	broad.mit.edu	37	11	17793591	17793591	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:17793591G>A	ENST00000379472.3	+	2	980	c.950G>A	c.(949-951)cGc>cAc	p.R317H	KCNC1_ENST00000265969.6_Missense_Mutation_p.R317H	NM_004976.4	NP_004967.1	P48547	KCNC1_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 1	317						voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.R317H(2)		breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(7)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						CGCTTCGTGCGCATCTTGCGC	0.647													7	8					0	0	1	0	0	A	17793591	G	A	17793591	3	1	81	1	0	0	0	0	1	0	0	0	8058	1087	38	1	956	1	KCNC1	11	17793591	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	248806	17793591	117212925	8458	12074											
TPH1	7166	broad.mit.edu	37	11	18042548	18042548	+	Missense_Mutation	SNP	G	G	A	rs147642427		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:18042548G>A	ENST00000250018.2	-	10	1887	c.1325C>T	c.(1324-1326)cCg>cTg	p.P442L	RP1-59M18.2_ENST00000525523.1_RNA|TPH1_ENST00000341556.2_Intron	NM_004179.2	NP_004170.1	P17752	TPH1_HUMAN	tryptophan hydroxylase 1	442					aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(14)|prostate(1)|stomach(1)	25					L-Tryptophan(DB00150)|Tetrahydrobiopterin(DB00360)	TTAGATACTCGGCTTCCTGCT	0.498													84	103					0	0	1	0	0	A	18042548	G	A	18042548	3	1	81	1	0	0	0	0	1	0	0	0	16462	1116	39	1	13	1	TPH1	11	18042548	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	248957	18042548	116963968	8459	12075											
TPH1	7166	broad.mit.edu	37	11	18054868	18054868	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:18054868C>T	ENST00000250018.2	-	3	917	c.355G>A	c.(355-357)Gcc>Acc	p.A119T	TPH1_ENST00000341556.2_Missense_Mutation_p.A119T	NM_004179.2	NP_004170.1	P17752	TPH1_HUMAN	tryptophan hydroxylase 1	119					aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(14)|prostate(1)|stomach(1)	25					L-Tryptophan(DB00150)|Tetrahydrobiopterin(DB00360)	ACTCTGTTGGCACAATGGTCC	0.358													68	153					0	0	1	0	0	T	18054868	C	T	18054868	3	4	81	1	0	0	0	0	1	0	0	0	16462	710	25	2	1011	2	TPH1	11	18054868	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	12320	18054868	116951648	8460	12076											
SAAL1	113174	broad.mit.edu	37	11	18110971	18110971	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:18110971C>T	ENST00000524803.1	-	7	725	c.676G>A	c.(676-678)Gct>Act	p.A226T	SAAL1_ENST00000533851.1_5'UTR|SAAL1_ENST00000529318.1_Missense_Mutation_p.A226T|SAAL1_ENST00000300013.4_Missense_Mutation_p.A226T			Q96ER3	SAAL1_HUMAN	serum amyloid A-like 1	226					acute-phase response	extracellular region	binding			breast(2)|large_intestine(5)|lung(8)	15						GGCTGAGCAGCCCCATTTCTG	0.493													37	40					0	0	1	0	0	T	18110971	C	T	18110971	3	4	81	1	0	0	0	0	1	0	0	0	13853	739	26	2	772	2	SAAL1	11	18110971	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	56103	18110971	116895545	8461	12077											
MRGPRX3	117195	broad.mit.edu	37	11	18158969	18158969	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:18158969C>A	ENST00000396275.2	+	3	581	c.220C>A	c.(220-222)Ctc>Atc	p.L74I		NM_054031.3	NP_473372.3	Q96LB0	MRGX3_HUMAN	MAS-related GPR, member X3	74						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						GGCCGACTTCCTCTTCCTTAG	0.562													38	42					1.60099e-16	2.05554e-16	1	1	0	A	18158969	C	A	18158969	3	1	81	1	0	0	0	0	1	0	0	0	9817	681	24	4	222	4	MRGPRX3	11	18158969	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	47998	18158969	116847547	8462	12078	55	2									
MRGPRX3	117195	broad.mit.edu	37	11	18158979	18158979	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:18158979G>A	ENST00000396275.2	+	3	591	c.230G>A	c.(229-231)aGc>aAc	p.S77N		NM_054031.3	NP_473372.3	Q96LB0	MRGX3_HUMAN	MAS-related GPR, member X3	77						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						CTCTTCCTTAGCGGCCACATT	0.547													8	77					0	0	1	0	0	A	18158979	G	A	18158979	3	1	81	1	0	0	0	0	1	0	0	0	9817	971	34	2	232	2	MRGPRX3	11	18158979	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	10	18158979	116847537	8463	12079	55	2									
MRGPRX3	117195	broad.mit.edu	37	11	18159368	18159368	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:18159368C>T	ENST00000396275.2	+	3	980	c.619C>T	c.(619-621)Cgg>Tgg	p.R207W		NM_054031.3	NP_473372.3	Q96LB0	MRGX3_HUMAN	MAS-related GPR, member X3	207						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						CTGTGGATCCCGGAAGATGCC	0.542													5	69					0	0	1	0	0	T	18159368	C	T	18159368	3	4	81	1	0	0	0	0	1	0	0	0	9817	643	23	1	621	1	MRGPRX3	11	18159368	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	389	18159368	116847148	8464	12080											
MRGPRX4	117196	broad.mit.edu	37	11	18194963	18194963	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:18194963T>C	ENST00000314254.3	+	1	580	c.160T>C	c.(160-162)Tac>Cac	p.Y54H	RP11-113D6.6_ENST00000527671.1_Intron	NM_054032.3	NP_473373.2	Q96LA9	MRGX4_HUMAN	MAS-related GPR, member X4	54			Y -> C (in dbSNP:rs1869788).			integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						GCTCCTGGGCTACCGCATGCG	0.552													36	57					0	0	1	0	0	C	18194963	T	C	18194963	3	2	81	1	0	0	0	0	1	0	0	0	9818	1522	53	3	162	3	MRGPRX4	11	18194963	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	35595	18194963	116811553	8465	12081											
MRGPRX4	117196	broad.mit.edu	37	11	18195332	18195332	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:18195332G>T	ENST00000314254.3	+	1	949	c.529G>T	c.(529-531)Gat>Tat	p.D177Y	RP11-113D6.6_ENST00000527671.1_Intron	NM_054032.3	NP_473373.2	Q96LA9	MRGX4_HUMAN	MAS-related GPR, member X4	177						integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						TGAAACGTCAGATTTCATCCC	0.517													12	178					1.5842e-08	1.88841e-08	1	1	0	T	18195332	G	T	18195332	3	4	81	1	0	0	0	0	1	0	0	0	9818	942	33	4	531	4	MRGPRX4	11	18195332	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	369	18195332	116811184	8466	12082											
SAA2	6289	broad.mit.edu	37	11	18267006	18267006	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:18267006G>A	ENST00000526900.1	-	4	470	c.287C>T	c.(286-288)gCc>gTc	p.A96V	SAA2_ENST00000256733.4_Missense_Mutation_p.A96V|SAA2-SAA4_ENST00000524555.1_RNA|SAA2_ENST00000529528.1_Missense_Mutation_p.A96V|SAA2_ENST00000528349.1_Intron|SAA2_ENST00000414546.2_Intron|SAA2_ENST00000530400.1_Intron					serum amyloid A2											central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(1)	6						AGCCTGATCGGCCAGCGAGTC	0.557													5	36					0	0	1	0	0	A	18267006	G	A	18267006	3	1	81	1	0	0	0	0	1	0	0	0	13851	1203	42	2	111	2	SAA2	11	18267006	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	71674	18267006	116739510	8467	12083											
SAA2	6289	broad.mit.edu	37	11	18267031	18267031	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:18267031C>A	ENST00000526900.1	-	4	445	c.262G>T	c.(262-264)Ggc>Tgc	p.G88C	SAA2_ENST00000256733.4_Missense_Mutation_p.G88C|SAA2-SAA4_ENST00000524555.1_RNA|SAA2_ENST00000529528.1_Missense_Mutation_p.G88C|SAA2_ENST00000528349.1_Intron|SAA2_ENST00000414546.2_Intron|SAA2_ENST00000530400.1_Intron					serum amyloid A2											central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(1)	6						GCACCACGGCCTGTGAGTCTC	0.567													11	27					0.000673444	0.000721718	1	1	0	A	18267031	C	A	18267031	3	1	81	1	0	0	0	0	1	0	0	0	13851	681	24	4	136	4	SAA2	11	18267031	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	25	18267031	116739485	8468	12084											
HPS5	11234	broad.mit.edu	37	11	18313021	18313021	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:18313021G>T	ENST00000396253.3	-	15	2528	c.2066C>A	c.(2065-2067)tCt>tAt	p.S689Y	HPS5_ENST00000352460.3_5'UTR|HPS5_ENST00000349215.3_Missense_Mutation_p.S803Y|HPS5_ENST00000438420.2_Missense_Mutation_p.S689Y	NM_007216.3	NP_009147.3	Q9UPZ3	HPS5_HUMAN	Hermansky-Pudlak syndrome 5	803						cytosol				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						ATCCCAAACAGAAGGGCTATT	0.348									Hermansky-Pudlak syndrome				15	29					3.45872e-05	3.85959e-05	1	1	0	T	18313021	G	T	18313021	3	4	81	1	0	0	0	0	1	0	0	0	7383	942	33	4	1013	4	HPS5	11	18313021	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	45990	18313021	116693495	8469	12085											
HPS5	11234	broad.mit.edu	37	11	18313457	18313457	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:18313457C>A	ENST00000396253.3	-	15	2092	c.1630G>T	c.(1630-1632)Ggt>Tgt	p.G544C	HPS5_ENST00000352460.3_5'UTR|HPS5_ENST00000349215.3_Missense_Mutation_p.G658C|HPS5_ENST00000438420.2_Missense_Mutation_p.G544C	NM_007216.3	NP_009147.3	Q9UPZ3	HPS5_HUMAN	Hermansky-Pudlak syndrome 5	658						cytosol				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						TCTGAAACACCTGAAAAGTCC	0.353									Hermansky-Pudlak syndrome				8	95					3.09899e-07	3.60815e-07	1	1	0	A	18313457	C	A	18313457	3	1	81	1	0	0	0	0	1	0	0	0	7383	681	24	4	1449	4	HPS5	11	18313457	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	436	18313457	116693059	8470	12086											
HPS5	11234	broad.mit.edu	37	11	18327847	18327847	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:18327847C>T	ENST00000396253.3	-	6	779	c.317G>A	c.(316-318)gGa>gAa	p.G106E	HPS5_ENST00000349215.3_Missense_Mutation_p.G220E|HPS5_ENST00000438420.2_Missense_Mutation_p.G106E|HPS5_ENST00000531848.1_Missense_Mutation_p.G106E	NM_007216.3	NP_009147.3	Q9UPZ3	HPS5_HUMAN	Hermansky-Pudlak syndrome 5	220						cytosol				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						GAAACAAGCTCCATATTCTCC	0.403									Hermansky-Pudlak syndrome				17	24					0	0	1	0	0	T	18327847	C	T	18327847	3	4	81	1	0	0	0	0	1	0	0	0	7383	855	30	2	2798	2	HPS5	11	18327847	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	14390	18327847	116678669	8471	12087											
GTF2H1	2965	broad.mit.edu	37	11	18379514	18379514	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:18379514G>A	ENST00000265963.4	+	12	1436	c.1276G>A	c.(1276-1278)Gct>Act	p.A426T	GTF2H1_ENST00000534641.1_Missense_Mutation_p.A310T|GTF2H1_ENST00000530496.2_Missense_Mutation_p.A114T|GTF2H1_ENST00000453096.2_Missense_Mutation_p.A426T|GTF2H1_ENST00000526630.2_Missense_Mutation_p.A16T	NM_005316.3	NP_005307.1	P32780	TF2H1_HUMAN	general transcription factor IIH, polypeptide 1, 62kDa	426					mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	protein binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	20						CTCAAGTAGTGCTGCCAGTAG	0.428								Nucleotide excision repair (NER)					17	24					0	0	1	0	0	A	18379514	G	A	18379514	3	1	81	1	0	0	0	0	1	0	0	0	6901	1319	46	2	1318	2	GTF2H1	11	18379514	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	51667	18379514	116627002	8472	12088											
IGSF22	283284	broad.mit.edu	37	11	18735622	18735622	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:18735622C>T	ENST00000513874.1	-	14	2011	c.1872G>A	c.(1870-1872)acG>acA	p.T624T	RP11-1081L13.4_ENST00000527285.1_RNA	NM_173588.3	NP_775859	Q8N9C0	IGS22_HUMAN	immunoglobulin superfamily, member 22	624	Ig-like 4.									NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						TGATGTGGGCCGTGTGGCCTA	0.617													25	43					0	0	1	0	0	T	18735622	C	T	18735622	2	4	81	1	0	0	0	0	0	0	0	1	7644	639	23	1		1	IGSF22	11	18735622	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	356108	18735622	116270894	8473	12089											
IGSF22	283284	broad.mit.edu	37	11	18735840	18735840	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:18735840G>T	ENST00000513874.1	-	13	1921	c.1782C>A	c.(1780-1782)gcC>gcA	p.A594A	RP11-1081L13.4_ENST00000527285.1_RNA	NM_173588.3	NP_775859	Q8N9C0	IGS22_HUMAN	immunoglobulin superfamily, member 22	594										NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						TGAATACAGAGGCTTCACTTT	0.572													4	38					0.00909568	0.00944708	1	1	0	T	18735840	G	T	18735840	2	4	81	1	0	0	0	0	0	0	0	1	7644	987	35	4		4	IGSF22	11	18735840	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	218	18735840	116270676	8474	12090											
IGSF22	283284	broad.mit.edu	37	11	18736140	18736140	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:18736140G>A	ENST00000513874.1	-	12	1702	c.1563C>T	c.(1561-1563)tcC>tcT	p.S521S	RP11-1081L13.4_ENST00000527285.1_RNA	NM_173588.3	NP_775859	Q8N9C0	IGS22_HUMAN	immunoglobulin superfamily, member 22	521										NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						CGTGCACGTCGGACATCCCGC	0.602													6	57					0	0	1	0	0	A	18736140	G	A	18736140	2	1	81	1	0	0	0	0	0	0	0	1	7644	1103	39	1		1	IGSF22	11	18736140	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	300	18736140	116270376	8475	12091											
IGSF22	283284	broad.mit.edu	37	11	18737093	18737093	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:18737093C>T	ENST00000513874.1	-	11	1556	c.1417G>A	c.(1417-1419)Gca>Aca	p.A473T	RP11-1081L13.4_ENST00000527285.1_RNA	NM_173588.3	NP_775859	Q8N9C0	IGS22_HUMAN	immunoglobulin superfamily, member 22	473	Ig-like 3.									NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						ATCAGCTCTGCTCGCTTGCCC	0.532													6	70					0	0	1	0	0	T	18737093	C	T	18737093	3	4	81	1	0	0	0	0	1	0	0	0	7644	797	28	2	2615	2	IGSF22	11	18737093	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	953	18737093	116269423	8476	12092											
IGSF22	283284	broad.mit.edu	37	11	18741651	18741651	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:18741651C>A	ENST00000513874.1	-	6	618		c.e6-1		RP11-1081L13.4_ENST00000527285.1_RNA	NM_173588.3	NP_775859	Q8N9C0	IGS22_HUMAN	immunoglobulin superfamily, member 22											NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						TTCTCTTGACCTGAGGATAGA	0.517													4	58					0.00024832	0.000269806	1	1	0	A	18741651	C	A	18741651	5	1	81	1	0	0	0	0	0	0	1	0	7644	695	24	4	3574	4	IGSF22	11	18741651	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	4558	18741651	116264865	8477	12093											
MRGPRX1	259249	broad.mit.edu	37	11	18956162	18956162	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:18956162C>T	ENST00000302797.3	-	1	394	c.170G>A	c.(169-171)cGc>cAc	p.R57H	MRGPRX1_ENST00000526914.1_5'UTR	NM_147199.3	NP_671732.3	Q96LB2	MRGX1_HUMAN	MAS-related GPR, member X1	57					acute-phase response	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						GGCGTTCCTGCGCATGCGGCA	0.557													35	79					0	0	1	0	0	T	18956162	C	T	18956162	3	4	81	1	0	0	0	0	1	0	0	0	9815	768	27	1	802	1	MRGPRX1	11	18956162	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	214511	18956162	116050354	8478	12094											
ZDHHC13	54503	broad.mit.edu	37	11	19167744	19167744	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:19167744C>T	ENST00000446113.2	+	3	311	c.190C>T	c.(190-192)Cga>Tga	p.R64*	ZDHHC13_ENST00000399351.3_5'UTR	NM_019028.2	NP_061901.2	Q8IUH4	ZDH13_HUMAN	zinc finger, DHHC-type containing 13	64					positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi-associated vesicle membrane|integral to membrane	magnesium ion transmembrane transporter activity|palmitoyltransferase activity|signal transducer activity|zinc ion binding			NS(1)|kidney(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	6						AATTTTTGAACGATGTAAAGA	0.313													6	9					0	0	1	0	0	T	19167744	C	T	19167744	4	4	81	1	0	0	0	0	0	1	0	0	17661	528	19	1	200	1	ZDHHC13	11	19167744	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	211582	19167744	115838772	8479	12095											
ZDHHC13	54503	broad.mit.edu	37	11	19173709	19173709	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:19173709G>T	ENST00000446113.2	+	7	710	c.589G>T	c.(589-591)Gaa>Taa	p.E197*	ZDHHC13_ENST00000399351.3_Nonsense_Mutation_p.E67*|ZDHHC13_ENST00000532812.1_3'UTR	NM_019028.2	NP_061901.2	Q8IUH4	ZDH13_HUMAN	zinc finger, DHHC-type containing 13	197					positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi-associated vesicle membrane|integral to membrane	magnesium ion transmembrane transporter activity|palmitoyltransferase activity|signal transducer activity|zinc ion binding			NS(1)|kidney(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	6						AGACAGGCCAGAACCAACTGG	0.348													24	44					1.1804e-14	1.50034e-14	1	1	0	T	19173709	G	T	19173709	4	4	81	1	0	0	0	0	0	1	0	0	17661	943	33	4	615	4	ZDHHC13	11	19173709	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	5965	19173709	115832807	8480	12096											
E2F8	79733	broad.mit.edu	37	11	19246308	19246308	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:19246308G>A	ENST00000527884.1	-	13	2733	c.2501C>T	c.(2500-2502)aCc>aTc	p.T834I	E2F8_ENST00000250024.4_Missense_Mutation_p.T834I|RP11-428C19.4_ENST00000527978.1_RNA	NM_001256371.1|NM_001256372.1	NP_001243300.1|NP_001243301.1	A0AVK6	E2F8_HUMAN	E2F transcription factor 8	834					cell cycle	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GGATGAGCTGGTTGGCTTGGT	0.488													11	74					0	0	1	0	0	A	19246308	G	A	19246308	3	1	81	1	0	0	0	0	1	0	0	0	4899	1261	44	2	106	2	E2F8	11	19246308	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	72599	19246308	115760208	8481	12097											
E2F8	79733	broad.mit.edu	37	11	19247037	19247037	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:19247037G>T	ENST00000527884.1	-	12	2384	c.2152C>A	c.(2152-2154)Ctc>Atc	p.L718I	E2F8_ENST00000250024.4_Missense_Mutation_p.L718I|RP11-428C19.4_ENST00000527978.1_RNA	NM_001256371.1|NM_001256372.1	NP_001243300.1|NP_001243301.1	A0AVK6	E2F8_HUMAN	E2F transcription factor 8	718					cell cycle	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CTTGAAGCGAGAGCCGGGCTG	0.527													30	46					1.80694e-10	2.21318e-10	1	1	0	T	19247037	G	T	19247037	3	4	81	1	0	0	0	0	1	0	0	0	4899	942	33	4	459	4	E2F8	11	19247037	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	729	19247037	115759479	8482	12098											
E2F8	79733	broad.mit.edu	37	11	19256341	19256341	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:19256341C>A	ENST00000527884.1	-	5	948	c.716G>T	c.(715-717)gGa>gTa	p.G239V	E2F8_ENST00000250024.4_Missense_Mutation_p.G239V|RP11-428C19.4_ENST00000527978.1_RNA	NM_001256371.1|NM_001256372.1	NP_001243300.1|NP_001243301.1	A0AVK6	E2F8_HUMAN	E2F transcription factor 8	239					cell cycle	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GTCTGGGTGTCCATTTGGGCC	0.418													24	33					2.79863e-10	3.42042e-10	1	1	0	A	19256341	C	A	19256341	3	1	81	1	0	0	0	0	1	0	0	0	4899	855	30	5	1923	5	E2F8	11	19256341	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	9304	19256341	115750175	8483	12099											
NAV2	89797	broad.mit.edu	37	11	19954923	19954923	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:19954923C>A	ENST00000396085.1	+	7	1494	c.1133C>A	c.(1132-1134)cCt>cAt	p.P378H	NAV2_ENST00000396087.3_Missense_Mutation_p.P401H|NAV2_ENST00000349880.4_Missense_Mutation_p.P378H|NAV2_ENST00000360655.4_Missense_Mutation_p.P314H|NAV2_ENST00000540292.1_Missense_Mutation_p.P332H|NAV2_ENST00000527559.2_Missense_Mutation_p.P330H	NM_182964.5	NP_892009.3	Q8IVL1	NAV2_HUMAN	neuron navigator 2	401						nucleus	ATP binding|helicase activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						TCGGTCAAGCCTCCTGGGCCT	0.597													14	193					6.31663e-08	7.44777e-08	1	1	0	A	19954923	C	A	19954923	3	1	81	1	0	0	0	0	1	0	0	0	10232	681	24	4	1238	4	NAV2	11	19954923	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	698582	19954923	115051593	8484	12100											
NAV2	89797	broad.mit.edu	37	11	20122653	20122653	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:20122653C>T	ENST00000396085.1	+	33	6722	c.6361C>T	c.(6361-6363)Cga>Tga	p.R2121*	NAV2_ENST00000396087.3_Nonsense_Mutation_p.R2177*|NAV2_ENST00000349880.4_Nonsense_Mutation_p.R2118*|NAV2_ENST00000360655.4_Nonsense_Mutation_p.R2054*|NAV2_ENST00000540292.1_Nonsense_Mutation_p.R2108*|NAV2_ENST00000527559.2_Nonsense_Mutation_p.R2106*|NAV2_ENST00000311043.8_Nonsense_Mutation_p.R1182*|NAV2_ENST00000533917.1_Nonsense_Mutation_p.R1182*	NM_182964.5	NP_892009.3	Q8IVL1	NAV2_HUMAN	neuron navigator 2	2177						nucleus	ATP binding|helicase activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						TATAGTGCTTCGAGAGGGACG	0.542													36	50					0	0	1	0	0	T	20122653	C	T	20122653	4	4	81	1	0	0	0	0	0	1	0	0	10232	876	31	1	6596	1	NAV2	11	20122653	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	167730	20122653	114883863	8485	12101											
NAV2	89797	broad.mit.edu	37	11	20124899	20124899	+	Silent	SNP	C	C	T	rs138671489	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:20124899C>T	ENST00000396085.1	+	34	6886	c.6525C>T	c.(6523-6525)caC>caT	p.H2175H	NAV2_ENST00000396087.3_Silent_p.H2231H|NAV2_ENST00000349880.4_Silent_p.H2172H|NAV2_ENST00000360655.4_Silent_p.H2108H|NAV2_ENST00000540292.1_Silent_p.H2162H|NAV2_ENST00000527559.2_Silent_p.H2160H|NAV2_ENST00000311043.8_Silent_p.H1236H|NAV2_ENST00000533917.1_Silent_p.H1236H	NM_182964.5	NP_892009.3	Q8IVL1	NAV2_HUMAN	neuron navigator 2	2231						nucleus	ATP binding|helicase activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						ACCTACACCACGTGAGCTCTC	0.542													21	49					0	0	1	0	0	T	20124899	C	T	20124899	2	4	81	1	0	0	0	0	0	0	0	1	10232	535	19	1		1	NAV2	11	20124899	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2246	20124899	114881617	8486	12102											
PRMT3	10196	broad.mit.edu	37	11	20417380	20417380	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:20417380A>G	ENST00000331079.6	+	6	649	c.432A>G	c.(430-432)gtA>gtG	p.V144V	PRMT3_ENST00000437750.2_Silent_p.V82V	NM_001145167.1|NM_005788.3	NP_001138639.1|NP_005779	O60678	ANM3_HUMAN	protein arginine methyltransferase 3	144							zinc ion binding			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|prostate(1)	17						CGGTGTCAGTACCCTTCTCAT	0.373													29	45					0	0	1	0	0	G	20417380	A	G	20417380	2	3	81	1	0	0	0	0	0	0	0	1	12590	378	14	3		3	PRMT3	11	20417380	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	292481	20417380	114589136	8487	12103											
PRMT3	10196	broad.mit.edu	37	11	20515715	20515715	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:20515715C>T	ENST00000331079.6	+	15	1618	c.1401C>T	c.(1399-1401)gtC>gtT	p.V467V	PRMT3_ENST00000437750.2_Silent_p.V405V	NM_001145167.1|NM_005788.3	NP_001138639.1|NP_005779	O60678	ANM3_HUMAN	protein arginine methyltransferase 3	467							zinc ion binding			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|prostate(1)	17						CAATTCAGGTCGTGTTCTCTA	0.373													93	157					0	0	1	0	0	T	20515715	C	T	20515715	2	4	81	1	0	0	0	0	0	0	0	1	12590	871	31	1		1	PRMT3	11	20515715	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	98335	20515715	114490801	8488	12104											
SLC6A5	9152	broad.mit.edu	37	11	20625938	20625938	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:20625938G>T	ENST00000525748.1	+	3	920	c.647G>T	c.(646-648)aGg>aTg	p.R216M		NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 5	216					synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	AATGTCTGGAGGTTTCCCTAC	0.632													7	137					0.000157383	0.000171784	1	1	0	T	20625938	G	T	20625938	3	4	81	1	0	0	0	0	1	0	0	0	14742	1000	35	4	657	4	SLC6A5	11	20625938	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	110223	20625938	114380578	8489	12105											
SLC6A5	9152	broad.mit.edu	37	11	20658807	20658807	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:20658807C>A	ENST00000525748.1	+	12	2100	c.1827C>A	c.(1825-1827)tgC>tgA	p.C609*	SLC6A5_ENST00000528440.1_3'UTR	NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 5	609					synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	CTCTGGGCTGCTGCATTTGTT	0.542													10	71					0.00621372	0.00649472	1	1	0	A	20658807	C	A	20658807	4	1	81	1	0	0	0	0	0	1	0	0	14742	805	28	4	1873	4	SLC6A5	11	20658807	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	32869	20658807	114347709	8490	12106											
NELL1	4745	broad.mit.edu	37	11	20699541	20699541	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:20699541A>G	ENST00000298925.5	+	3	356	c.203A>G	c.(202-204)aAc>aGc	p.N68S	NELL1_ENST00000325319.5_Missense_Mutation_p.N40S|NELL1_ENST00000357134.5_Missense_Mutation_p.N40S|NELL1_ENST00000532434.1_Missense_Mutation_p.N40S			Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	40					cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity			NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						GACCTTGTGAACACCACCCTT	0.488													28	58					0	0	1	0	0	G	20699541	A	G	20699541	3	3	81	1	0	0	0	0	1	0	0	0	10380	43	2	3	125	3	NELL1	11	20699541	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	40734	20699541	114306975	8491	12107											
NELL1	4745	broad.mit.edu	37	11	20939758	20939758	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:20939758A>G	ENST00000298925.5	+	7	871	c.718A>G	c.(718-720)Atg>Gtg	p.M240V	NELL1_ENST00000325319.5_Missense_Mutation_p.M155V|NELL1_ENST00000357134.5_Missense_Mutation_p.M212V|NELL1_ENST00000532434.1_Missense_Mutation_p.M212V			Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	212					cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity			NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						GATCATCTTTATGCCGAATGG	0.368													38	70					0	0	1	0	0	G	20939758	A	G	20939758	3	3	81	1	0	0	0	0	1	0	0	0	10380	449	16	3	656	3	NELL1	11	20939758	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	240217	20939758	114066758	8492	12108											
ANO5	203859	broad.mit.edu	37	11	22249017	22249017	+	Missense_Mutation	SNP	G	G	A	rs146725859		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:22249017G>A	ENST00000324559.8	+	7	850	c.533G>A	c.(532-534)aGt>aAt	p.S178N		NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	178						chloride channel complex|endoplasmic reticulum membrane	chloride channel activity	p.S178I(1)		breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CTCCCACTGAGTGTGAAGTAT	0.463													51	60					0	0	1	0	0	A	22249017	G	A	22249017	3	1	81	1	0	0	0	0	1	0	0	0	694	1029	36	2	559	2	ANO5	11	22249017	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1309259	22249017	112757499	8493	12109											
ANO5	203859	broad.mit.edu	37	11	22261165	22261165	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:22261165C>T	ENST00000324559.8	+	9	1130	c.813C>T	c.(811-813)taC>taT	p.Y271Y		NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	271						chloride channel complex|endoplasmic reticulum membrane	chloride channel activity			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						ATGAAAGATACACACTTCACC	0.403													7	160					0	0	1	0	0	T	22261165	C	T	22261165	2	4	81	1	0	0	0	0	0	0	0	1	694	489	17	2		2	ANO5	11	22261165	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	12148	22261165	112745351	8494	12110											
ANO5	203859	broad.mit.edu	37	11	22281285	22281285	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:22281285T>G	ENST00000324559.8	+	15	1945	c.1628T>G	c.(1627-1629)aTg>aGg	p.M543R		NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	543						chloride channel complex|endoplasmic reticulum membrane	chloride channel activity			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						ATCACAAAAATGGGTAAGCTG	0.363													7	28					0	0	1	0	0	G	22281285	T	G	22281285	3	3	81	1	0	0	0	0	1	0	0	0	694	1464	51	4	1686	4	ANO5	11	22281285	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	20120	22281285	112725231	8495	12111											
SLC17A6	57084	broad.mit.edu	37	11	22396404	22396404	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:22396404C>T	ENST00000263160.3	+	9	1582	c.1145C>T	c.(1144-1146)aCg>aTg	p.T382M		NM_020346.2	NP_065079.1	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 6	382					sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						CTTTCAACTACGACAGTGAGA	0.373													69	155					0	0	1	0	0	T	22396404	C	T	22396404	3	4	81	1	0	0	0	0	1	0	0	0	14476	536	19	1	1179	1	SLC17A6	11	22396404	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	115119	22396404	112610112	8496	12112											
ANO3	63982	broad.mit.edu	37	11	26556046	26556046	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:26556046C>T	ENST00000256737.3	+	9	1765	c.913C>T	c.(913-915)Cga>Tga	p.R305*	ANO3_ENST00000537978.1_Nonsense_Mutation_p.R289*|ANO3_ENST00000531568.1_Nonsense_Mutation_p.R159*|ANO3_ENST00000525139.1_Nonsense_Mutation_p.R289*	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	305						chloride channel complex	chloride channel activity			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						CAATGCTACTCGAAGCAGAAT	0.348													22	53					0	0	1	0	0	T	26556046	C	T	26556046	4	4	81	1	0	0	0	0	0	1	0	0	692	876	31	1	947	1	ANO3	11	26556046	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	4159642	26556046	108450470	8497	12113											
MUC15	143662	broad.mit.edu	37	11	26582625	26582625	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:26582625C>T	ENST00000436318.2	-	4	1206	c.1073G>A	c.(1072-1074)cGt>cAt	p.R358H	ANO3_ENST00000529242.1_Intron|ANO3_ENST00000256737.3_Intron|MUC15_ENST00000527569.1_Missense_Mutation_p.R308H|MUC15_ENST00000281268.8_Missense_Mutation_p.R308H|MUC15_ENST00000529533.1_Missense_Mutation_p.R358H|ANO3_ENST00000537978.1_Intron|ANO3_ENST00000531568.1_Intron|MUC15_ENST00000455601.2_Missense_Mutation_p.R331H|ANO3_ENST00000525139.1_Intron			Q8N387	MUC15_HUMAN	mucin 15, cell surface associated	331						extracellular region|integral to membrane|plasma membrane		p.R331H(2)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25						TACAGAAGTACGAAGTGGAGG	0.378													32	54					0	0	1	0	0	T	26582625	C	T	26582625	3	4	81	1	0	0	0	0	1	0	0	0	10020	536	19	1	16	1	MUC15	11	26582625	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	26579	26582625	108423891	8498	12114											
LGR4	55366	broad.mit.edu	37	11	27389979	27389979	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:27389979G>A	ENST00000379214.4	-	18	2734	c.2291C>T	c.(2290-2292)gCg>gTg	p.A764V	LGR4_ENST00000389858.4_Missense_Mutation_p.A740V	NM_018490.2	NP_060960.2	Q9BXB1	LGR4_HUMAN	leucine-rich repeat containing G protein-coupled receptor 4	764						integral to membrane|plasma membrane	protein-hormone receptor activity			NS(3)|breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(10)|ovary(1)	32						TGAAAAAAACGCCACAGGGCA	0.403													59	67					0	0	1	0	0	A	27389979	G	A	27389979	3	1	81	1	0	0	0	0	1	0	0	0	8796	1087	38	1	568	1	LGR4	11	27389979	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	807354	27389979	107616537	8499	12115											
LGR4	55366	broad.mit.edu	37	11	27390141	27390141	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:27390141A>G	ENST00000379214.4	-	18	2572	c.2129T>C	c.(2128-2130)tTa>tCa	p.L710S	LGR4_ENST00000389858.4_Missense_Mutation_p.L686S	NM_018490.2	NP_060960.2	Q9BXB1	LGR4_HUMAN	leucine-rich repeat containing G protein-coupled receptor 4	710						integral to membrane|plasma membrane	protein-hormone receptor activity			NS(3)|breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(10)|ovary(1)	32						TAATAGCACTAACGTTACAGT	0.398													12	85					0	0	1	0	0	G	27390141	A	G	27390141	3	3	81	1	0	0	0	0	1	0	0	0	8796	372	13	3	730	3	LGR4	11	27390141	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	162	27390141	107616375	8500	12116											
LGR4	55366	broad.mit.edu	37	11	27390580	27390580	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:27390580A>C	ENST00000379214.4	-	18	2133	c.1690T>G	c.(1690-1692)Ttt>Gtt	p.F564V	LGR4_ENST00000389858.4_Missense_Mutation_p.F540V	NM_018490.2	NP_060960.2	Q9BXB1	LGR4_HUMAN	leucine-rich repeat containing G protein-coupled receptor 4	564						integral to membrane|plasma membrane	protein-hormone receptor activity			NS(3)|breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(10)|ovary(1)	32						CAAGATGCAAATGTTGTTAAA	0.368													33	46					0	0	1	0	0	C	27390580	A	C	27390580	3	2	81	1	0	0	0	0	1	0	0	0	8796	101	4	4	1169	4	LGR4	11	27390580	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	439	27390580	107615936	8501	12117											
BDNF	627	broad.mit.edu	37	11	27679427	27679427	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:27679427G>A	ENST00000525528.1	-	1	1778	c.685C>T	c.(685-687)Cga>Tga	p.R229*	BDNF_ENST00000525950.1_Nonsense_Mutation_p.R229*|BDNF_ENST00000420794.1_Nonsense_Mutation_p.R229*|BDNF-AS_ENST00000530686.1_RNA|BDNF_ENST00000584049.1_5'UTR|BDNF_ENST00000438929.1_Nonsense_Mutation_p.R311*|BDNF_ENST00000395980.2_Nonsense_Mutation_p.R229*|BDNF_ENST00000533131.1_Nonsense_Mutation_p.R229*|BDNF-AS_ENST00000501176.2_RNA|BDNF_ENST00000532997.1_Nonsense_Mutation_p.R229*|BDNF_ENST00000395978.3_Nonsense_Mutation_p.R229*|BDNF_ENST00000530861.1_Nonsense_Mutation_p.R229*|BDNF_ENST00000439476.2_Nonsense_Mutation_p.R229*|BDNF_ENST00000395981.3_Nonsense_Mutation_p.R229*|BDNF_ENST00000395986.2_Nonsense_Mutation_p.R244*|BDNF_ENST00000418212.1_Nonsense_Mutation_p.R229*|BDNF-AS_ENST00000532965.1_RNA|BDNF_ENST00000533246.1_Nonsense_Mutation_p.R229*|BDNF_ENST00000395983.3_Nonsense_Mutation_p.R229*|BDNF-AS_ENST00000502161.2_RNA|BDNF-AS_ENST00000500662.2_RNA|BDNF-AS_ENST00000530313.1_RNA|BDNF-AS_ENST00000499008.3_RNA|BDNF_ENST00000356660.4_Nonsense_Mutation_p.R229*|BDNF_ENST00000314915.6_Nonsense_Mutation_p.R237*|BDNF-AS_ENST00000499568.2_RNA	NM_170735.5	NP_733931.1	P23560	BDNF_HUMAN	brain-derived neurotrophic factor	229						extracellular region	growth factor activity			breast(1)|large_intestine(3)|lung(2)	6						CTTATGAATCGCCAGCCAATT	0.423													7	128					0	0	1	0	0	A	27679427	G	A	27679427	4	1	81	1	0	0	0	0	0	1	0	0	1392	1095	38	1	62	1	BDNF	11	27679427	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	288847	27679427	107327089	8502	12118											
KCNA4	3739	broad.mit.edu	37	11	30033097	30033097	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:30033097C>T	ENST00000328224.6	-	2	2362	c.1129G>A	c.(1129-1131)Gtc>Atc	p.V377I		NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	377						voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						ACAATACAGACTGTTTCCACG	0.453													9	64					0	0	1	0	0	T	30033097	C	T	30033097	3	4	81	1	0	0	0	0	1	0	0	0	8049	565	20	2	836	2	KCNA4	11	30033097	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2353670	30033097	104973419	8503	12119											
MPPED2	744	broad.mit.edu	37	11	30557550	30557550	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:30557550C>A	ENST00000448418.2	-	3	661	c.301G>T	c.(301-303)Gac>Tac	p.D101Y	MPPED2_ENST00000358117.5_Missense_Mutation_p.D101Y	NM_001145399.1	NP_001138871.1	Q15777	MPPD2_HUMAN	metallophosphoesterase domain containing 2	101					nervous system development		hydrolase activity|metal ion binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(15)|skin(2)|upper_aerodigestive_tract(2)	33						CCTAACCAGTCATTAAACTTC	0.498													7	27					0.000157383	0.000171784	1	1	0	A	30557550	C	A	30557550	3	1	81	1	0	0	0	0	1	0	0	0	9791	826	29	5	675	5	MPPED2	11	30557550	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	524453	30557550	104448966	8504	12120											
DCDC1	341019	broad.mit.edu	37	11	30914468	30914468	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:30914468G>A	ENST00000597505.1	-	34	4969	c.4970C>T	c.(4969-4971)cCg>cTg	p.P1657L	DCDC1_ENST00000406071.2_Missense_Mutation_p.P395L			P59894	DCDC1_HUMAN	doublecortin domain containing 1	0					intracellular signal transduction					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					CAGGTTGCTCGGCTTGACTGC	0.423													30	66					0	0	1	0	0	A	30914468	G	A	30914468	3	1	81	1	0	0	0	0	1	0	0	0	4307	1131	39	1		1	DCDC1	11	30914468	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	356918	30914468	104092048	8505	12121											
DCDC1	341019	broad.mit.edu	37	11	30915926	30915926	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:30915926G>A	ENST00000597505.1	-	33	4761	c.4762C>T	c.(4762-4764)Cga>Tga	p.R1588*	DCDC1_ENST00000406071.2_Nonsense_Mutation_p.R326*			P59894	DCDC1_HUMAN	doublecortin domain containing 1	0					intracellular signal transduction					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					GCCGCTACTCGCCGCCCTGAG	0.478													8	50					0	0	1	0	0	A	30915926	G	A	30915926	4	1	81	1	0	0	0	0	0	1	0	0	4307	1102	38	1		1	DCDC1	11	30915926	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1458	30915926	104090590	8506	12122											
ELP4	26610	broad.mit.edu	37	11	31805058	31805058	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:31805058C>T	ENST00000350638.5	+	10	1296	c.1261C>T	c.(1261-1263)Cac>Tac	p.H421Y	ELP4_ENST00000379163.5_Missense_Mutation_p.A468V|ELP4_ENST00000395934.2_3'UTR	NM_019040.3	NP_061913.3	Q96EB1	ELP4_HUMAN	elongator acetyltransferase complex subunit 4	421					histone acetylation|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|Elongator holoenzyme complex|transcription elongation factor complex	phosphorylase kinase regulator activity|protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)	20	Lung SC(675;0.225)					AGGCAAGAAGCACCTGGACTT	0.473													7	66					0	0	1	0	0	T	31805058	C	T	31805058	3	4	81	1	0	0	0	0	1	0	0	0	5110	710	25	2	1299	2	ELP4	11	31805058	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	889132	31805058	103201458	8507	12123											
WT1	7490	broad.mit.edu	37	11	32421585	32421585	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:32421585C>T	ENST00000332351.3	-	6	1291	c.1007G>A	c.(1006-1008)aGc>aAc	p.S336N	WT1_ENST00000379079.2_Missense_Mutation_p.S124N|WT1_ENST00000530998.1_Missense_Mutation_p.S107N|WT1_ENST00000448076.3_Missense_Mutation_p.S336N	NM_024424.3|NM_024426.4	NP_077742.2|NP_077744	P19544	WT1_HUMAN	Wilms tumor 1	268					adrenal cortex formation|branching involved in ureteric bud morphogenesis|camera-type eye development|cardiac muscle cell fate commitment|cellular response to cAMP|cellular response to gonadotropin stimulus|germ cell development|glomerular basement membrane development|glomerular visceral epithelial cell differentiation|induction of apoptosis|male genitalia development|male gonad development|mesenchymal to epithelial transition|metanephric epithelium development|metanephric S-shaped body morphogenesis|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of female gonad development|negative regulation of metanephric glomerular mesangial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of translation|positive regulation of male gonad development|positive regulation of transcription, DNA-dependent|posterior mesonephric tubule development|regulation of organ formation|RNA splicing|sex determination|vasculogenesis|visceral serous pericardium development	cytoplasm|nuclear speck|nucleoplasm	C2H2 zinc finger domain binding|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding		EWSR1/WT1(234)	NS(1)|haematopoietic_and_lymphoid_tissue(348)|kidney(149)|large_intestine(9)|lung(20)|peritoneum(1)|pleura(2)|skin(2)|upper_aerodigestive_tract(1)	533	Breast(20;0.247)		OV - Ovarian serous cystadenocarcinoma(30;0.128)			GTACCCTGTGCTGTGGCTGCA	0.498			"D, Mis, N, F, S"	EWSR1	"Wilms, desmoplastic small round cell tumor"	Wilms			Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation;Frasier syndrome;Familial Wilms' tumor;Denys-Drash syndrome				12	23					0	0	1	0	0	T	32421585	C	T	32421585	3	4	81	1	0	0	0	0	1	0	0	0	17468	797	28	2	566	2	WT1	11	32421585	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	616527	32421585	102584931	8508	12124											
CCDC73	493860	broad.mit.edu	37	11	32637485	32637485	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:32637485C>A	ENST00000335185.5	-	15	1419		c.e15+1		CCDC73_ENST00000534415.1_5'UTR	NM_001008391.2	NP_001008392.2	Q6ZRK6	CCD73_HUMAN	coiled-coil domain containing 73											NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	51	Breast(20;0.112)					TTTAAGGTTACCATCTATAAT	0.264													4	11					0.00909568	0.00944708	1	1	0	A	32637485	C	A	32637485	5	1	81	1	0	0	0	0	0	0	1	0	2866	521	18	5	1879	5	CCDC73	11	32637485	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	215900	32637485	102369031	8509	12125											
QSER1	79832	broad.mit.edu	37	11	32954223	32954223	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:32954223C>T	ENST00000399302.2	+	4	1367	c.1032C>T	c.(1030-1032)taC>taT	p.Y344Y	QSER1_ENST00000527788.1_Intron	NM_001076786.1	NP_001070254.1	Q2KHR3	QSER1_HUMAN	glutamine and serine rich 1	344	Ser-rich.									breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	48	Breast(20;0.158)					CCCAAAATTACGGTTTAGTAC	0.388													34	83					0	0	1	0	0	T	32954223	C	T	32954223	2	4	81	1	0	0	0	0	0	0	0	1	12934	547	19	1		1	QSER1	11	32954223	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	316738	32954223	102052293	8510	12126											
QSER1	79832	broad.mit.edu	37	11	32955686	32955686	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:32955686C>T	ENST00000399302.2	+	4	2830	c.2495C>T	c.(2494-2496)tCg>tTg	p.S832L	QSER1_ENST00000527788.1_Missense_Mutation_p.S593L	NM_001076786.1	NP_001070254.1	Q2KHR3	QSER1_HUMAN	glutamine and serine rich 1	832										breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	48	Breast(20;0.158)					TCTCTTGGATCGATGTGTTTC	0.363													34	61					0	0	1	0	0	T	32955686	C	T	32955686	3	4	81	1	0	0	0	0	1	0	0	0	12934	893	31	1	2501	1	QSER1	11	32955686	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1463	32955686	102050830	8511	12127											
TCP11L1	55346	broad.mit.edu	37	11	33080616	33080616	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:33080616T>G	ENST00000334274.4	+	6	1150	c.750T>G	c.(748-750)ttT>ttG	p.F250L	TCP11L1_ENST00000531632.2_Missense_Mutation_p.F250L|TCP11L1_ENST00000432887.1_Missense_Mutation_p.F250L|TCP11L1_ENST00000324357.9_Missense_Mutation_p.F29L	NM_018393.3	NP_060863.3	Q9NUJ3	T11L1_HUMAN	t-complex 11, testis-specific-like 1	250										kidney(1)|liver(2)|lung(2)|skin(1)	6						GGAAGAAGTTTCAAGAGATTT	0.398													10	157					0	0	1	0	0	G	33080616	T	G	33080616	3	3	81	1	0	0	0	0	1	0	0	0	15773	1780	62	5	768	5	TCP11L1	11	33080616	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	124930	33080616	101925900	8512	12128											
CSTF3	1479	broad.mit.edu	37	11	33118430	33118430	+	Missense_Mutation	SNP	C	C	T	rs11553357	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:33118430C>T	ENST00000323959.4	-	14	1362	c.1223G>A	c.(1222-1224)cGc>cAc	p.R408H	TCP11L1_ENST00000324357.9_Intron	NM_001326.2	NP_001317.1	Q12996	CSTF3_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 3, 77kDa	408					mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	protein binding|RNA binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(1)|stomach(1)	19						GACATGGTGGCGGGTTCTGGT	0.363													33	77					0	0	1	0	0	T	33118430	C	T	33118430	3	4	81	1	0	0	0	0	1	0	0	0	4011	768	27	1	962	1	CSTF3	11	33118430	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	37814	33118430	101888086	8513	12129											
CSTF3	1479	broad.mit.edu	37	11	33163271	33163271	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:33163271C>T	ENST00000323959.4	-	3	306	c.167G>A	c.(166-168)cGc>cAc	p.R56H	CSTF3_ENST00000524827.1_Missense_Mutation_p.R88H|CSTF3_ENST00000438862.2_Missense_Mutation_p.R56H|CSTF3_ENST00000526480.1_5'UTR|CSTF3_ENST00000431742.2_3'UTR	NM_001326.2	NP_001317.1	Q12996	CSTF3_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 3, 77kDa	56					mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	protein binding|RNA binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(1)|stomach(1)	19						GGCAACAAGGCGTTCATAAGT	0.343													14	23					0	0	1	0	0	T	33163271	C	T	33163271	3	4	81	1	0	0	0	0	1	0	0	0	4011	768	27	1	2149	1	CSTF3	11	33163271	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	44841	33163271	101843245	8514	12130											
HIPK3	10114	broad.mit.edu	37	11	33373380	33373380	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:33373380G>A	ENST00000303296.4	+	15	3339	c.3034G>A	c.(3034-3036)Gca>Aca	p.A1012T	HIPK3_ENST00000456517.1_Missense_Mutation_p.A991T|HIPK3_ENST00000525975.1_Missense_Mutation_p.A991T|HIPK3_ENST00000379016.3_Missense_Mutation_p.A991T	NM_005734.3	NP_005725.3	Q9H422	HIPK3_HUMAN	homeodomain interacting protein kinase 3	1012					anti-apoptosis|apoptosis|negative regulation of JUN kinase activity|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm	ATP binding|protein serine/threonine kinase activity			endometrium(3)|kidney(3)|large_intestine(9)|liver(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	39						TGAGCATATGGCAAACACAGG	0.438													13	13					0	0	1	0	0	A	33373380	G	A	33373380	3	1	81	1	0	0	0	0	1	0	0	0	7159	1203	42	2	3088	2	HIPK3	11	33373380	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	210109	33373380	101633136	8515	12131											
LMO2	4005	broad.mit.edu	37	11	33886303	33886303	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:33886303C>A	ENST00000257818.2	-	5	1138	c.309G>T	c.(307-309)caG>caT	p.Q103H	LMO2_ENST00000395833.3_Missense_Mutation_p.Q34H	NM_005574.3	NP_005565.2	P25791	RBTN2_HUMAN	LIM domain only 2 (rhombotin-like 1)	34	LIM zinc-binding 2.				multicellular organismal development	nucleus	protein binding|zinc ion binding			NS(1)|endometrium(2)|large_intestine(1)|lung(7)|prostate(1)|stomach(1)|urinary_tract(1)	14						CAATGTTCTGCTGGCAGCCGC	0.632			T	TRD@	T-ALL								14	39					7.93312e-07	9.15943e-07	1	1	0	A	33886303	C	A	33886303	3	1	81	1	0	0	0	0	1	0	0	0	8893	796	28	4	382	4	LMO2	11	33886303	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	512923	33886303	101120213	8516	12132											
NAT10	55226	broad.mit.edu	37	11	34160752	34160752	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:34160752A>G	ENST00000257829.3	+	22	2432	c.2226A>G	c.(2224-2226)ggA>ggG	p.G742G	NAT10_ENST00000527971.1_Intron|NAT10_ENST00000531159.2_Silent_p.G670G	NM_024662.2	NP_078938	Q9H0A0	NAT10_HUMAN	N-acetyltransferase 10 (GCN5-related)	742	N-acetyltransferase.|Required for localization to the nucleolus and midbody.					nucleolus	ATP binding|N-acetyltransferase activity|protein binding			endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(5;0.0119)|all_hematologic(20;0.0231)				ACCTGACCGGAGAGCACTCGT	0.517													8	90					0	0	1	0	0	G	34160752	A	G	34160752	2	3	81	1	0	0	0	0	0	0	0	1	10222	291	11	3		3	NAT10	11	34160752	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	274449	34160752	100845764	8517	12133											
ABTB2	25841	broad.mit.edu	37	11	34175835	34175835	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:34175835C>T	ENST00000435224.2	-	16	3281	c.2857G>A	c.(2857-2859)Gtg>Atg	p.V953M	ABTB2_ENST00000298992.2_Missense_Mutation_p.V767M	NM_145804.2	NP_665803.2	A8K6S9	A8K6S9_HUMAN	ankyrin repeat and BTB (POZ) domain containing 2	767							DNA binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(20;0.0691)				TAGGTGTTCACGGCACTCTCC	0.632													10	13					0	0	1	0	0	T	34175835	C	T	34175835	3	4	81	1	0	0	0	0	1	0	0	0	103	536	19	1	228	1	ABTB2	11	34175835	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	15083	34175835	100830681	8518	12134											
ABTB2	25841	broad.mit.edu	37	11	34218941	34218941	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:34218941C>T	ENST00000435224.2	-	3	1599	c.1175G>A	c.(1174-1176)cGg>cAg	p.R392Q	ABTB2_ENST00000530814.1_5'UTR|ABTB2_ENST00000298992.2_Missense_Mutation_p.R206Q	NM_145804.2	NP_665803.2	A8K6S9	A8K6S9_HUMAN	ankyrin repeat and BTB (POZ) domain containing 2	206							DNA binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(20;0.0691)				CTGTGGACACCGCAGAAAGTA	0.642													11	33					0	0	1	0	0	T	34218941	C	T	34218941	3	4	81	1	0	0	0	0	1	0	0	0	103	652	23	1	1962	1	ABTB2	11	34218941	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	43106	34218941	100787575	8519	12135											
CAT	847	broad.mit.edu	37	11	34470767	34470767	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:34470767G>A	ENST00000241052.4	+	2	184	c.95G>A	c.(94-96)gGt>gAt	p.G32D		NM_001752.3	NP_001743.1	P04040	CATA_HUMAN	catalase	32					hydrogen peroxide catabolic process|negative regulation of apoptosis|positive regulation of cell division|protein tetramerization|purine base metabolic process|purine nucleotide catabolic process|UV protection	peroxisomal matrix|peroxisomal membrane	catalase activity|heme binding|NADP binding|protein homodimerization activity			breast(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(3)	26		Lung NSC(402;2.76e-08)|Acute lymphoblastic leukemia(5;0.00143)|all_hematologic(20;0.0116)|Melanoma(852;0.027)		BRCA - Breast invasive adenocarcinoma(625;0.000995)	Fomepizole(DB01213)	ACTGGAGCTGGTAACCCAGTA	0.458													33	44					0	0	1	0	0	A	34470767	G	A	34470767	3	1	81	1	0	0	0	0	1	0	0	0	2704	1261	44	2	101	2	CAT	11	34470767	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	251826	34470767	100535749	8520	12136											
CAT	847	broad.mit.edu	37	11	34489941	34489941	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:34489941C>T	ENST00000241052.4	+	11	1522	c.1433C>T	c.(1432-1434)gCg>gTg	p.A478V		NM_001752.3	NP_001743.1	P04040	CATA_HUMAN	catalase	478					hydrogen peroxide catabolic process|negative regulation of apoptosis|positive regulation of cell division|protein tetramerization|purine base metabolic process|purine nucleotide catabolic process|UV protection	peroxisomal matrix|peroxisomal membrane	catalase activity|heme binding|NADP binding|protein homodimerization activity			breast(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(3)	26		Lung NSC(402;2.76e-08)|Acute lymphoblastic leukemia(5;0.00143)|all_hematologic(20;0.0116)|Melanoma(852;0.027)		BRCA - Breast invasive adenocarcinoma(625;0.000995)	Fomepizole(DB01213)	CAGAAGAAAGCGGTGAGTCTT	0.468													37	49					0	0	1	0	0	T	34489941	C	T	34489941	5	4	81	1	0	0	0	0	0	0	1	0	2704	782	27	1	1475	1	CAT	11	34489941	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	19174	34489941	100516575	8521	12137											
ELF5	2001	broad.mit.edu	37	11	34515065	34515065	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:34515065C>T	ENST00000312319.2	-	3	575	c.346G>A	c.(346-348)Gag>Aag	p.E116K	ELF5_ENST00000532417.1_Missense_Mutation_p.E106K|ELF5_ENST00000257832.2_Missense_Mutation_p.E106K|ELF5_ENST00000429939.2_Intron|ELF5_ENST00000528709.1_Intron	NM_001243081.1|NM_198381.1	NP_001230010.1|NP_938195.1	Q9UKW6	ELF5_HUMAN	E74-like factor 5 (ets domain transcription factor)	116	PNT.				cell proliferation|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(4)|skin(1)	5		Acute lymphoblastic leukemia(5;0.0087)|all_hematologic(20;0.0384)				TACAGGTACTCGCCGCAGAGG	0.557											OREG0020879	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	15					0	0	1	0	0	T	34515065	C	T	34515065	3	4	81	1	0	0	0	0	1	0	0	0	5085	893	31	1	471	1	ELF5	11	34515065	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	25124	34515065	100491451	8522	12138											
EHF	26298	broad.mit.edu	37	11	34680413	34680413	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:34680413G>T	ENST00000257831.3	+	9	959	c.838G>T	c.(838-840)Gat>Tat	p.D280Y	EHF_ENST00000450654.2_Missense_Mutation_p.D257Y|EHF_ENST00000533754.1_Missense_Mutation_p.D280Y|EHF_ENST00000530286.1_Missense_Mutation_p.D280Y|EHF_ENST00000531794.1_Missense_Mutation_p.D302Y	NM_012153.5	NP_036285.2	Q9NZC4	EHF_HUMAN	ets homologous factor	280					cell proliferation|epithelial cell differentiation|multicellular organismal development|positive regulation of transcription, DNA-dependent		protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		NFIA/EHF(2)	autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|lung(8)|upper_aerodigestive_tract(1)	17		all_hematologic(20;0.117)	Epithelial(1;0.055)|all cancers(1;0.137)|STAD - Stomach adenocarcinoma(6;0.235)			GGAGCGTGTGGATGGACGAAG	0.408													5	56					0.248553	0.249876	1	1	0	T	34680413	G	T	34680413	3	4	81	1	0	0	0	0	1	0	0	0	5007	1174	41	5	868	5	EHF	11	34680413	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	165348	34680413	100326103	8523	12139											
CD44	960	broad.mit.edu	37	11	35198194	35198194	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:35198194C>T	ENST00000263398.6	+	2	574	c.140C>T	c.(139-141)aCg>aTg	p.T47M	CD44_ENST00000428726.2_Missense_Mutation_p.T47M|CD44_ENST00000433354.2_Missense_Mutation_p.T47M|CD44_ENST00000415148.2_Missense_Mutation_p.T47M|CD44_ENST00000433892.2_Missense_Mutation_p.T47M|CD44_ENST00000434472.2_Missense_Mutation_p.T47M|CD44_ENST00000526669.2_Missense_Mutation_p.T47M|CD44_ENST00000526025.1_Missense_Mutation_p.T47M|CD44_ENST00000278386.6_Missense_Mutation_p.T47M|CD44_ENST00000449691.2_Missense_Mutation_p.T47M|CD44_ENST00000352818.4_Missense_Mutation_p.T47M|CD44_ENST00000360158.4_Missense_Mutation_p.T47M|CD44_ENST00000437706.2_Missense_Mutation_p.T47M	NM_001001391.1|NM_001202555.1|NM_001202556.1	NP_001001391.1|NP_001189484.1|NP_001189485.1	P16070	CD44_HUMAN	CD44 molecule (Indian blood group)	47	Link.				cell-cell adhesion|cell-matrix adhesion|interferon-gamma-mediated signaling pathway|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation	cell surface|Golgi apparatus|integral to plasma membrane	collagen binding|hyaluronic acid binding|receptor activity			cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|skin(1)	23	all_cancers(35;0.212)|all_lung(20;0.0874)|all_epithelial(35;0.112)	all_hematologic(20;0.107)	STAD - Stomach adenocarcinoma(6;0.00731)		Hyaluronidase(DB00070)	ATCTCTCGGACGGAGGCCGCT	0.483													12	26					0	0	1	0	0	T	35198194	C	T	35198194	3	4	81	1	0	0	0	0	1	0	0	0	3039	536	19	1	146	1	CD44	11	35198194	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	517781	35198194	99808322	8524	12140											
SLC1A2	6506	broad.mit.edu	37	11	35302462	35302462	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:35302462C>T	ENST00000278379.3	-	9	1655	c.1373G>A	c.(1372-1374)gGc>gAc	p.G458D	SLC1A2_ENST00000395753.1_Missense_Mutation_p.G449D|SLC1A2_ENST00000606205.1_Missense_Mutation_p.G458D|SLC1A2_ENST00000395750.1_Missense_Mutation_p.G449D|SLC1A2_ENST00000479543.1_5'UTR	NM_004171.3	NP_004162.2	P43004	EAA2_HUMAN	solute carrier family 1 (glial high affinity glutamate transporter), member 2	458					D-aspartate import|L-glutamate import|synaptic transmission	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|urinary_tract(1)	24	all_lung(20;0.211)|all_epithelial(35;0.234)	all_hematologic(20;0.109)	STAD - Stomach adenocarcinoma(6;0.00731)		L-Glutamic Acid(DB00142)	TGTTGGCAGGCCCACGGCTGT	0.617													31	37					0	0	1	0	0	T	35302462	C	T	35302462	3	4	81	1	0	0	0	0	1	0	0	0	14487	739	26	2	363	2	SLC1A2	11	35302462	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	104268	35302462	99704054	8525	12141											
SLC1A2	6506	broad.mit.edu	37	11	35314060	35314060	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:35314060G>A	ENST00000278379.3	-	7	1147	c.865C>T	c.(865-867)Ccc>Tcc	p.P289S	SLC1A2_ENST00000395753.1_Missense_Mutation_p.P280S|SLC1A2_ENST00000606205.1_Missense_Mutation_p.P289S|SLC1A2_ENST00000395750.1_Missense_Mutation_p.P280S	NM_004171.3	NP_004162.2	P43004	EAA2_HUMAN	solute carrier family 1 (glial high affinity glutamate transporter), member 2	289				AKLMVDFFNILNEIVMKLVIMIMWYSP -> GQADGGFLQH FERDCNEVSDHDHVVLS (in Ref. 3; CAA83532).	D-aspartate import|L-glutamate import|synaptic transmission	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|urinary_tract(1)	24	all_lung(20;0.211)|all_epithelial(35;0.234)	all_hematologic(20;0.109)	STAD - Stomach adenocarcinoma(6;0.00731)		L-Glutamic Acid(DB00142)	ATACCCAGGGGAGAGTACCTG	0.468													15	23					0	0	1	0	0	A	35314060	G	A	35314060	3	1	81	1	0	0	0	0	1	0	0	0	14487	1174	41	2	879	2	SLC1A2	11	35314060	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	11598	35314060	99692456	8526	12142											
SLC1A2	6506	broad.mit.edu	37	11	35339032	35339032	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:35339032G>A	ENST00000278379.3	-	2	331	c.49C>T	c.(49-51)Cga>Tga	p.R17*	SLC1A2_ENST00000395753.1_Nonsense_Mutation_p.R8*|SLC1A2_ENST00000606205.1_Nonsense_Mutation_p.R17*|SLC1A2_ENST00000395750.1_Nonsense_Mutation_p.R8*	NM_004171.3	NP_004162.2	P43004	EAA2_HUMAN	solute carrier family 1 (glial high affinity glutamate transporter), member 2	17					D-aspartate import|L-glutamate import|synaptic transmission	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|urinary_tract(1)	24	all_lung(20;0.211)|all_epithelial(35;0.234)	all_hematologic(20;0.109)	STAD - Stomach adenocarcinoma(6;0.00731)		L-Glutamic Acid(DB00142)	TCGTGCATTCGCACTTCCACC	0.562													19	182					0	0	1	0	0	A	35339032	G	A	35339032	4	1	81	1	0	0	0	0	0	1	0	0	14487	1095	38	1	1715	1	SLC1A2	11	35339032	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	24972	35339032	99667484	8527	12143											
PAMR1	25891	broad.mit.edu	37	11	35454022	35454022	+	Missense_Mutation	SNP	C	C	T	rs143951734	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:35454022C>T	ENST00000378880.2	-	11	2490	c.2045G>A	c.(2044-2046)cGc>cAc	p.R682H	PAMR1_ENST00000532848.1_Missense_Mutation_p.R642H|PAMR1_ENST00000278360.3_Missense_Mutation_p.R699H|PAMR1_ENST00000378878.3_Missense_Mutation_p.R571H	NM_001001991.1	NP_001001991.1	Q6UXH9	PAMR1_HUMAN	peptidase domain containing associated with muscle regeneration 1	682	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						CAGATGCCAGCGTGGCTCAGG	0.567													29	36					0	0	1	0	0	T	35454022	C	T	35454022	3	4	81	1	0	0	0	0	1	0	0	0	11460	768	27	1	121	1	PAMR1	11	35454022	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	114990	35454022	99552494	8528	12144											
LDLRAD3	143458	broad.mit.edu	37	11	36250939	36250939	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:36250939G>T	ENST00000315571.5	+	6	1051	c.1030G>T	c.(1030-1032)Gaa>Taa	p.E344*	LDLRAD3_ENST00000524419.1_Nonsense_Mutation_p.E334*|LDLRAD3_ENST00000528989.1_Nonsense_Mutation_p.E295*	NM_174902.2	NP_777562.1	Q86YD5	LRAD3_HUMAN	low density lipoprotein receptor class A domain containing 3	344						integral to membrane	receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(7)|skin(1)	28	all_lung(20;0.089)|Lung NSC(22;0.175)|all_epithelial(35;0.177)	all_hematologic(20;0.124)				GGGCACTGAAGAAGTATAAGT	0.552													33	53					7.11191e-15	9.0478e-15	1	1	0	T	36250939	G	T	36250939	4	4	81	1	0	0	0	0	0	1	0	0	8746	943	33	4	1052	4	LDLRAD3	11	36250939	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	796917	36250939	98755577	8529	12145											
COMMD9	29099	broad.mit.edu	37	11	36296317	36296317	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:36296317T>G	ENST00000263401.5	-	6	478	c.462A>C	c.(460-462)caA>caC	p.Q154H	COMMD9_ENST00000532705.1_Silent_p.R143R|COMMD9_ENST00000452374.2_Missense_Mutation_p.Q112H	NM_014186.3	NP_054905.2	Q9P000	COMD9_HUMAN	COMM domain containing 9	154	COMM.									kidney(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	5	all_lung(20;0.211)	all_hematologic(20;0.107)				TGGGATCTTCTTGGATCTGAA	0.537													8	63					0	0	1	0	0	G	36296317	T	G	36296317	3	3	81	1	0	0	0	0	1	0	0	0	3746	1606	56	5	138	5	COMMD9	11	36296317	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	45378	36296317	98710199	8530	12146											
PRR5L	79899	broad.mit.edu	37	11	36472881	36472881	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:36472881G>A	ENST00000378867.3	+	9	1063	c.708G>A	c.(706-708)acG>acA	p.T236T	PRR5L_ENST00000311599.5_Silent_p.T163T|PRR5L_ENST00000530639.1_Silent_p.T236T|PRR5L_ENST00000389693.3_3'UTR|PRR5L_ENST00000527487.1_Intron	NM_024841.4	NP_079117.3	Q6MZQ0	PRR5L_HUMAN	proline rich 5 like	236										breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1)	19						CCACGTACACGCTGGGTAAGG	0.517													21	47					0	0	1	0	0	A	36472881	G	A	36472881	2	1	81	1	0	0	0	0	0	0	0	1	12652	1074	38	1		1	PRR5L	11	36472881	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	176564	36472881	98533635	8531	12147											
TRAF6	7189	broad.mit.edu	37	11	36511763	36511763	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:36511763C>T	ENST00000526995.1	-	7	1440	c.1194G>A	c.(1192-1194)ccG>ccA	p.P398P	TRAF6_ENST00000348124.5_Silent_p.P398P	NM_004620.3	NP_004611.1	Q9Y4K3	TRAF6_HUMAN	TNF receptor-associated factor 6, E3 ubiquitin protein ligase	398	MATH.				activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|ossification|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of osteoclast differentiation|positive regulation of T cell cytokine production|protein autoubiquitination|protein K63-linked ubiquitination|response to interleukin-1|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cell cortex|cytosol|endosome membrane|internal side of plasma membrane|nuclear membrane	histone deacetylase binding|mitogen-activated protein kinase kinase kinase binding|protein kinase B binding|protein N-terminus binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)	27	all_lung(20;0.211)	all_hematologic(20;0.107)				GCTGAGCAGTCGGTAACTGAA	0.493													19	74					0	0	1	0	0	T	36511763	C	T	36511763	2	4	81	1	0	0	0	0	0	0	0	1	16506	871	31	1		1	TRAF6	11	36511763	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	38882	36511763	98494753	8532	12148											
TRAF6	7189	broad.mit.edu	37	11	36512081	36512081	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:36512081G>A	ENST00000526995.1	-	7	1122	c.876C>T	c.(874-876)gtC>gtT	p.V292V	TRAF6_ENST00000348124.5_Silent_p.V292V|TRAF6_ENST00000529150.1_5'UTR	NM_004620.3	NP_004611.1	Q9Y4K3	TRAF6_HUMAN	TNF receptor-associated factor 6, E3 ubiquitin protein ligase	292	Interaction with TAX1BP1.				activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|ossification|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of osteoclast differentiation|positive regulation of T cell cytokine production|protein autoubiquitination|protein K63-linked ubiquitination|response to interleukin-1|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cell cortex|cytosol|endosome membrane|internal side of plasma membrane|nuclear membrane	histone deacetylase binding|mitogen-activated protein kinase kinase kinase binding|protein kinase B binding|protein N-terminus binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)	27	all_lung(20;0.211)	all_hematologic(20;0.107)				GGAAATTCCGGACCTCTGAGA	0.478													46	91					0	0	1	0	0	A	36512081	G	A	36512081	2	1	81	1	0	0	0	0	0	0	0	1	16506	1161	41	2		2	TRAF6	11	36512081	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	318	36512081	98494435	8533	12149											
RAG1	5896	broad.mit.edu	37	11	36596598	36596598	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:36596598A>G	ENST00000299440.5	+	2	1856	c.1744A>G	c.(1744-1746)Aga>Gga	p.R582G		NM_000448.2	NP_000439	P15918	RAG1_HUMAN	recombination activating gene 1	582					histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				GGAAGGCATGAGATCCCAAGA	0.493									Familial Hemophagocytic Lymphohistiocytosis				4	45					0	0	1	0	0	G	36596598	A	G	36596598	3	3	81	1	0	0	0	0	1	0	0	0	13055	296	11	3	1746	3	RAG1	11	36596598	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	84517	36596598	98409918	8534	12150											
LRRC4C	57689	broad.mit.edu	37	11	40135961	40135961	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:40135961G>A	ENST00000278198.2	-	2	3845	c.1882C>T	c.(1882-1884)Cga>Tga	p.R628*	LRRC4C_ENST00000527150.1_Nonsense_Mutation_p.R628*|LRRC4C_ENST00000528697.1_Nonsense_Mutation_p.R628*|LRRC4C_ENST00000530763.1_Nonsense_Mutation_p.R628*			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	628					regulation of axonogenesis	integral to membrane	protein binding			NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				GAGTTCATTCGGATCAATAAC	0.303													26	55					0	0	1	0	0	A	40135961	G	A	40135961	4	1	81	1	0	0	0	0	0	1	0	0	9053	1124	39	1	44	1	LRRC4C	11	40135961	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	3539363	40135961	94870555	8535	12151											
LRRC4C	57689	broad.mit.edu	37	11	40137065	40137065	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:40137065G>A	ENST00000278198.2	-	2	2741	c.778C>T	c.(778-780)Cgg>Tgg	p.R260W	LRRC4C_ENST00000527150.1_Missense_Mutation_p.R260W|LRRC4C_ENST00000528697.1_Missense_Mutation_p.R260W|LRRC4C_ENST00000530763.1_Missense_Mutation_p.R260W			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	260					regulation of axonogenesis	integral to membrane	protein binding			NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				AAGGCATTCCGTTCAATCACT	0.448													47	62					0	0	1	0	0	A	40137065	G	A	40137065	3	1	81	1	0	0	0	0	1	0	0	0	9053	1144	40	1	1148	1	LRRC4C	11	40137065	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1104	40137065	94869451	8536	12152											
LRRC4C	57689	broad.mit.edu	37	11	40137233	40137233	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:40137233G>T	ENST00000278198.2	-	2	2573	c.610C>A	c.(610-612)Ctt>Att	p.L204I	LRRC4C_ENST00000527150.1_Missense_Mutation_p.L204I|LRRC4C_ENST00000528697.1_Missense_Mutation_p.L204I|LRRC4C_ENST00000530763.1_Missense_Mutation_p.L204I			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	204					regulation of axonogenesis	integral to membrane	protein binding			NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				CACATGGCAAGGTTCAAATAC	0.453													29	69					1.88708e-17	2.43564e-17	1	1	0	T	40137233	G	T	40137233	3	4	81	1	0	0	0	0	1	0	0	0	9053	1000	35	4	1316	4	LRRC4C	11	40137233	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	168	40137233	94869283	8537	12153											
TTC17	55761	broad.mit.edu	37	11	43423045	43423045	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:43423045C>T	ENST00000039989.4	+	10	1283	c.1269C>T	c.(1267-1269)tgC>tgT	p.C423C	TTC17_ENST00000526774.1_3'UTR|TTC17_ENST00000299240.6_Silent_p.C423C	NM_018259.5	NP_060729.2	Q96AE7	TTC17_HUMAN	tetratricopeptide repeat domain 17	423							binding			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						GTTTACATTGCCAGTGGGACC	0.408													4	20					0	0	1	0	0	T	43423045	C	T	43423045	2	4	81	1	0	0	0	0	0	0	0	1	16746	747	26	2		2	TTC17	11	43423045	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3285812	43423045	91583471	8538	12154											
TTC17	55761	broad.mit.edu	37	11	43465045	43465045	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:43465045C>T	ENST00000039989.4	+	17	2436	c.2422C>T	c.(2422-2424)Cgg>Tgg	p.R808W	TTC17_ENST00000526774.1_3'UTR|TTC17_ENST00000299240.6_Missense_Mutation_p.R865W	NM_018259.5	NP_060729.2	Q96AE7	TTC17_HUMAN	tetratricopeptide repeat domain 17	808							binding			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						ACAAGGAATACGGGTGCTGAA	0.498													25	40					0	0	1	0	0	T	43465045	C	T	43465045	3	4	81	1	0	0	0	0	1	0	0	0	16746	527	19	1	2488	1	TTC17	11	43465045	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	42000	43465045	91541471	8539	12155											
ACCSL	390110	broad.mit.edu	37	11	44080142	44080142	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:44080142G>A	ENST00000378832.1	+	13	1573	c.1517G>A	c.(1516-1518)cGc>cAc	p.R506H		NM_001031854.2	NP_001027025.2	Q4AC99	1A1L2_HUMAN	1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)-like	506							1-aminocyclopropane-1-carboxylate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(14)|ovary(5)|pancreas(1)|skin(2)	34						CTCTATTGCCGCTTCCTGGAC	0.542													45	83					0	0	1	0	0	A	44080142	G	A	44080142	3	1	81	1	0	0	0	0	1	0	0	0	134	1087	38	1	1567	1	ACCSL	11	44080142	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	615097	44080142	90926374	8540	12156											
ACCS	84680	broad.mit.edu	37	11	44104852	44104852	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:44104852C>T	ENST00000263776.8	+	13	1679	c.1245C>T	c.(1243-1245)gaC>gaT	p.D415D		NM_001127219.1|NM_032592.3	NP_001120691.1|NP_115981.1	Q96QU6	1A1L1_HUMAN	1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)	415							1-aminocyclopropane-1-carboxylate synthase activity|protein homodimerization activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			breast(4)|endometrium(3)|large_intestine(11)|lung(15)|ovary(1)|skin(1)	35						TCTGGGTTGACTTGAGAAAGG	0.577													7	45					0	0	1	0	0	T	44104852	C	T	44104852	2	4	81	1	0	0	0	0	0	0	0	1	133	564	20	2		2	ACCS	11	44104852	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	24710	44104852	90901664	8541	12157											
EXT2	2132	broad.mit.edu	37	11	44219462	44219462	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:44219462C>T	ENST00000395673.3	+	9	1544	c.1488C>T	c.(1486-1488)taC>taT	p.Y496Y	EXT2_ENST00000533608.1_Silent_p.Y463Y|EXT2_ENST00000343631.3_Silent_p.Y463Y|EXT2_ENST00000358681.4_Silent_p.Y473Y	NM_000401.3	NP_000392.3	Q93063	EXT2_HUMAN	exostosin glycosyltransferase 2	463					glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction	Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|lung(17)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	32						TCCTCACCTACGACCGAGTAG	0.517			"Mis, N, F, S"			"exostoses, osteosarcoma"			Hereditary Multiple Exostoses				23	55					0	0	1	0	0	T	44219462	C	T	44219462	2	4	81	1	0	0	0	0	0	0	0	1	5352	547	19	1		1	EXT2	11	44219462	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	114610	44219462	90787054	8542	12158											
EXT2	2132	broad.mit.edu	37	11	44255770	44255770	+	Missense_Mutation	SNP	G	G	A	rs145024832	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:44255770G>A	ENST00000395673.3	+	12	2067	c.2011G>A	c.(2011-2013)Gtc>Atc	p.V671I	EXT2_ENST00000533608.1_Missense_Mutation_p.V638I|EXT2_ENST00000343631.3_Missense_Mutation_p.V638I|EXT2_ENST00000358681.4_Missense_Mutation_p.V648I	NM_000401.3	NP_000392.3	Q93063	EXT2_HUMAN	exostosin glycosyltransferase 2	638					glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction	Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|lung(17)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	32						GGTGGCCAACGTCACGGGAAA	0.433			"Mis, N, F, S"			"exostoses, osteosarcoma"			Hereditary Multiple Exostoses				17	12					0	0	1	0	0	A	44255770	G	A	44255770	3	1	81	1	0	0	0	0	1	0	0	0	5352	1145	40	1	2154	1	EXT2	11	44255770	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	36308	44255770	90750746	8543	12159											
PRDM11	56981	broad.mit.edu	37	11	45203856	45203856	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:45203856G>A	ENST00000263765.4	+	4	530	c.281G>A	c.(280-282)cGc>cAc	p.R94H	PRDM11_ENST00000424263.2_Missense_Mutation_p.R60H|PRDM11_ENST00000530656.1_Missense_Mutation_p.R94H			Q9NQV5	PRD11_HUMAN	PR domain containing 11	94										endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	26						AAGGGGAAGCGCGACCTCATC	0.587													15	27					0	0	1	0	0	A	45203856	G	A	45203856	3	1	81	1	0	0	0	0	1	0	0	0	12504	1087	38	1	291	1	PRDM11	11	45203856	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	948086	45203856	89802660	8544	12160											
PRDM11	56981	broad.mit.edu	37	11	45245842	45245842	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:45245842C>A	ENST00000263765.4	+	8	1168	c.919C>A	c.(919-921)Ctc>Atc	p.L307I	PRDM11_ENST00000424263.2_Missense_Mutation_p.L273I|PRDM11_ENST00000530656.1_Missense_Mutation_p.L307I|CTD-2560E9.3_ENST00000527450.1_RNA|PRDM11_ENST00000528980.1_Intron			Q9NQV5	PRD11_HUMAN	PR domain containing 11	307										endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	26						TCCCATTCATCTCTCTGTGCT	0.498													84	136					5.52753e-52	7.44344e-52	1	1	0	A	45245842	C	A	45245842	3	1	81	1	0	0	0	0	1	0	0	0	12504	913	32	4	945	4	PRDM11	11	45245842	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	41986	45245842	89760674	8545	12161											
SYT13	57586	broad.mit.edu	37	11	45265741	45265741	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:45265741C>A	ENST00000020926.3	-	6	1254	c.1143G>T	c.(1141-1143)caG>caT	p.Q381H		NM_001247987.1|NM_020826.2	NP_001234916.1|NP_065877.1	Q7L8C5	SYT13_HUMAN	synaptotagmin XIII	381	C2 2.					transport vesicle				breast(1)|large_intestine(3)|lung(16)|ovary(1)|skin(2)	23						CTGAATCGTCCTGGCCCAGCA	0.607													21	33					5.26018e-13	6.61446e-13	1	1	0	A	45265741	C	A	45265741	3	1	81	1	0	0	0	0	1	0	0	0	15526	680	24	4	141	4	SYT13	11	45265741	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	19899	45265741	89740775	8546	12162											
SLC35C1	55343	broad.mit.edu	37	11	45827637	45827637	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:45827637C>T	ENST00000314134.3	+	1	1681	c.285C>T	c.(283-285)gcC>gcT	p.A95A	SLC35C1_ENST00000456334.1_Silent_p.A82A|SLC35C1_ENST00000442528.2_Silent_p.A82A	NM_018389.4	NP_060859.4	Q96A29	FUCT1_HUMAN	solute carrier family 35 (GDP-fucose transporter), member C1	95						Golgi membrane|integral to membrane	GDP-fucose transmembrane transporter activity			endometrium(3)|kidney(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10				GBM - Glioblastoma multiforme(35;0.227)		GCGCTCTGGCCGCCTGCTGCC	0.667													14	26					0	0	1	0	0	T	45827637	C	T	45827637	2	4	81	1	0	0	0	0	0	0	0	1	14634	639	23	1		1	SLC35C1	11	45827637	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	561896	45827637	89178879	8547	12163											
MAPK8IP1	9479	broad.mit.edu	37	11	45926110	45926110	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:45926110C>T	ENST00000395629.2	+	8	2071	c.1741C>T	c.(1741-1743)Caa>Taa	p.Q581*	MAPK8IP1_ENST00000241014.2_Nonsense_Mutation_p.Q591*			Q9UQF2	JIP1_HUMAN	mitogen-activated protein kinase 8 interacting protein 1	591	PID.				vesicle-mediated transport	nucleus|perinuclear region of cytoplasm	kinesin binding|MAP-kinase scaffold activity|protein kinase inhibitor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)	24				GBM - Glioblastoma multiforme(35;0.231)		TGCTGCTATGCAAAAGGTACC	0.592													20	27					0	0	1	0	0	T	45926110	C	T	45926110	4	4	81	1	0	0	0	0	0	1	0	0	9334	711	25	2	1801	2	MAPK8IP1	11	45926110	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	98473	45926110	89080406	8548	12164											
PEX16	9409	broad.mit.edu	37	11	45935397	45935397	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:45935397C>T	ENST00000532681.1	-	9	1438	c.575G>A	c.(574-576)cGc>cAc	p.R192H	PEX16_ENST00000241041.3_Missense_Mutation_p.R287H|PEX16_ENST00000378750.5_Missense_Mutation_p.R287H			Q9Y5Y5	PEX16_HUMAN	peroxisomal biogenesis factor 16	287					ER-dependent peroxisome organization|peroxisome membrane biogenesis|protein import into peroxisome matrix|protein import into peroxisome membrane	endoplasmic reticulum membrane|integral to peroxisomal membrane	protein C-terminus binding			large_intestine(2)|lung(2)|ovary(2)|skin(1)	7				GBM - Glioblastoma multiforme(35;0.223)		GAAAGGAGAGCGCAGCAGGTA	0.672													17	26					0	0	1	0	0	T	45935397	C	T	45935397	3	4	81	1	0	0	0	0	1	0	0	0	11791	768	27	1	255	1	PEX16	11	45935397	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	9287	45935397	89071119	8549	12165											
PEX16	9409	broad.mit.edu	37	11	45935911	45935911	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:45935911T>G	ENST00000532681.1	-	7	1228	c.365A>C	c.(364-366)gAg>gCg	p.E122A	PEX16_ENST00000241041.3_Missense_Mutation_p.E217A|PEX16_ENST00000532554.1_5'UTR|PEX16_ENST00000378750.5_Missense_Mutation_p.E217A			Q9Y5Y5	PEX16_HUMAN	peroxisomal biogenesis factor 16	217					ER-dependent peroxisome organization|peroxisome membrane biogenesis|protein import into peroxisome matrix|protein import into peroxisome membrane	endoplasmic reticulum membrane|integral to peroxisomal membrane	protein C-terminus binding			large_intestine(2)|lung(2)|ovary(2)|skin(1)	7				GBM - Glioblastoma multiforme(35;0.223)		TGCGATGGTCTCCTGCAGCCC	0.662													17	36					0	0	1	0	0	G	45935911	T	G	45935911	3	3	81	1	0	0	0	0	1	0	0	0	11791	1551	54	5	473	5	PEX16	11	45935911	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	514	45935911	89070605	8550	12166											
PEX16	9409	broad.mit.edu	37	11	45937384	45937384	+	Translation_Start_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:45937384G>T	ENST00000532681.1	-	0	807				PEX16_ENST00000241041.3_Missense_Mutation_p.L77M|PEX16_ENST00000532554.1_Intron|PEX16_ENST00000378750.5_Missense_Mutation_p.L77M			Q9Y5Y5	PEX16_HUMAN	peroxisomal biogenesis factor 16						ER-dependent peroxisome organization|peroxisome membrane biogenesis|protein import into peroxisome matrix|protein import into peroxisome membrane	endoplasmic reticulum membrane|integral to peroxisomal membrane	protein C-terminus binding			large_intestine(2)|lung(2)|ovary(2)|skin(1)	7				GBM - Glioblastoma multiforme(35;0.223)		TGCTGGGACAGCGACTGCAAG	0.612													55	94					7.47603e-22	9.80569e-22	1	1	0	T	45937384	G	T	45937384	1	4	81	1	0	0	0	0	0	0	0	0	11791	962	34	4		4	PEX16	11	45937384	Translation_Start_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1473	45937384	89069132	8551	12167											
GYLTL1B	120071	broad.mit.edu	37	11	45949768	45949768	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:45949768G>A	ENST00000531526.1	+	13	1906	c.1795G>A	c.(1795-1797)Gcc>Acc	p.A599T	GYLTL1B_ENST00000325468.5_Missense_Mutation_p.A599T|GYLTL1B_ENST00000536139.1_Missense_Mutation_p.A568T|GYLTL1B_ENST00000401752.1_Missense_Mutation_p.A599T|GYLTL1B_ENST00000529052.1_Missense_Mutation_p.A568T	NM_152312.3	NP_689525.3	Q8N3Y3	LARG2_HUMAN	glycosyltransferase-like 1B	599					muscle cell homeostasis	Golgi membrane|integral to membrane	transferase activity, transferring glycosyl groups			breast(2)|central_nervous_system(2)|endometrium(6)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	22				GBM - Glioblastoma multiforme(35;0.226)		CACAGACTATGCCCGCTGGCG	0.672													10	67					0	0	1	0	0	A	45949768	G	A	45949768	3	1	81	1	0	0	0	0	1	0	0	0	6948	1319	46	2	1841	2	GYLTL1B	11	45949768	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	12384	45949768	89056748	8552	12168											
DGKZ	8525	broad.mit.edu	37	11	46393986	46393986	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:46393986G>T	ENST00000454345.1	+	12	1625	c.1500G>T	c.(1498-1500)aaG>aaT	p.K500N	DGKZ_ENST00000318201.8_Missense_Mutation_p.K289N|DGKZ_ENST00000456247.2_Missense_Mutation_p.K311N|DGKZ_ENST00000532868.2_Missense_Mutation_p.K316N|DGKZ_ENST00000543978.1_Intron|DGKZ_ENST00000421244.2_Missense_Mutation_p.K312N|DGKZ_ENST00000527911.1_Missense_Mutation_p.K312N|DGKZ_ENST00000395574.3_Missense_Mutation_p.K278N|DGKZ_ENST00000343674.6_Missense_Mutation_p.K328N|DGKZ_ENST00000528615.1_Missense_Mutation_p.K90N	NM_001105540.1	NP_001099010.1	Q13574	DGKZ_HUMAN	diacylglycerol kinase, zeta	500	DAGKc.|Mediates interaction with RASGRP1.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell migration|intracellular signal transduction|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of mitotic cell cycle|platelet activation	cytoplasm|lamellipodium|nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|lipid kinase activity|metal ion binding|protein binding|protein C-terminus binding			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|pancreas(1)|prostate(1)|skin(1)	25				GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141)		AGGGTGCAAAGATCATCCAGT	0.582													20	27					1.96292e-10	2.40212e-10	1	1	0	T	46393986	G	T	46393986	3	4	81	1	0	0	0	0	1	0	0	0	4502	933	33	4	1989	4	DGKZ	11	46393986	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	444218	46393986	88612530	8553	12169											
CHRM4	1132	broad.mit.edu	37	11	46407677	46407677	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:46407677C>T	ENST00000433765.2	-	1	430	c.431G>A	c.(430-432)cGc>cAc	p.R144H		NM_000741.2	NP_000732.2	P08173	ACM4_HUMAN	cholinergic receptor, muscarinic 4	144					cell proliferation	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity			breast(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	20				GBM - Glioblastoma multiforme(35;0.0254)|Lung(87;0.14)	Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372)|Tropicamide(DB00809)	CTTGGTGGTGCGCCGGGCAGG	0.582													5	11					0	0	1	0	0	T	46407677	C	T	46407677	3	4	81	1	0	0	0	0	1	0	0	0	3401	768	27	1	1012	1	CHRM4	11	46407677	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	13691	46407677	88598839	8554	12170											
AMBRA1	55626	broad.mit.edu	37	11	46564140	46564140	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:46564140C>T	ENST00000458649.2	-	7	1845	c.1427G>A	c.(1426-1428)gGg>gAg	p.G476E	AMBRA1_ENST00000528950.1_Missense_Mutation_p.G476E|AMBRA1_ENST00000426438.1_Missense_Mutation_p.G476E|AMBRA1_ENST00000533727.1_Missense_Mutation_p.G386E|AMBRA1_ENST00000314845.3_Missense_Mutation_p.G386E|AMBRA1_ENST00000298834.3_Missense_Mutation_p.G476E|AMBRA1_ENST00000534300.1_Missense_Mutation_p.G476E			Q9C0C7	AMRA1_HUMAN	autophagy/beclin-1 regulator 1	476					autophagy|cell differentiation|nervous system development	autophagic vacuole|cytoplasmic vesicle				NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		AGTTGCCAACCCTGATGCCGG	0.547													40	70					0	0	1	0	0	T	46564140	C	T	46564140	3	4	81	1	0	0	0	0	1	0	0	0	561	623	22	2	2517	2	AMBRA1	11	46564140	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	156463	46564140	88442376	8555	12171											
HARBI1	283254	broad.mit.edu	37	11	46637525	46637525	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:46637525C>T	ENST00000326737.3	-	2	510	c.263G>A	c.(262-264)cGg>cAg	p.R88Q		NM_173811.3	NP_776172.1	Q96MB7	HARB1_HUMAN	harbinger transposase derived 1	88						cytoplasm|nucleus	metal ion binding|nuclease activity			large_intestine(1)|prostate(1)|upper_aerodigestive_tract(1)	3						ATCTCCCATCCGAGTCTGGAA	0.502													37	72					0	0	1	0	0	T	46637525	C	T	46637525	3	4	81	1	0	0	0	0	1	0	0	0	6999	652	23	1	794	1	HARBI1	11	46637525	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	73385	46637525	88368991	8556	12172											
HARBI1	283254	broad.mit.edu	37	11	46637623	46637623	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:46637623C>T	ENST00000326737.3	-	2	412	c.165G>A	c.(163-165)gcG>gcA	p.A55A		NM_173811.3	NP_776172.1	Q96MB7	HARB1_HUMAN	harbinger transposase derived 1	55						cytoplasm|nucleus	metal ion binding|nuclease activity			large_intestine(1)|prostate(1)|upper_aerodigestive_tract(1)	3						TAGAAAGATTCGCCCCCAAGA	0.483													18	31					0	0	1	0	0	T	46637623	C	T	46637623	2	4	81	1	0	0	0	0	0	0	0	1	6999	871	31	1		1	HARBI1	11	46637623	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	98	46637623	88368893	8557	12173											
ZNF408	79797	broad.mit.edu	37	11	46726700	46726700	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:46726700C>T	ENST00000311764.2	+	5	1680	c.1450C>T	c.(1450-1452)Cgg>Tgg	p.R484W		NM_001184751.1|NM_024741.2	NP_001171680.1|NP_079017.1	Q9H9D4	ZN408_HUMAN	zinc finger protein 408	484					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|identical protein binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GGGCTCCCTGCGGAACCATAT	0.667													33	45					0	0	1	0	0	T	46726700	C	T	46726700	3	4	81	1	0	0	0	0	1	0	0	0	17945	759	27	1	1500	1	ZNF408	11	46726700	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	89077	46726700	88279816	8558	12174											
CKAP5	9793	broad.mit.edu	37	11	46773018	46773018	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:46773018G>T	ENST00000529230.1	-	39	5246	c.5200C>A	c.(5200-5202)Ctg>Atg	p.L1734M	CKAP5_ENST00000415402.1_Missense_Mutation_p.L1734M|CKAP5_ENST00000354558.3_Missense_Mutation_p.L1674M|CKAP5_ENST00000312055.5_Missense_Mutation_p.L1674M			Q14008	CKAP5_HUMAN	cytoskeleton associated protein 5	1734					cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization	centrosome|cytosol	protein binding			breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						TGGATATCCAGAAGAATTCTG	0.398													62	102					2.50483e-33	3.34864e-33	1	1	0	T	46773018	G	T	46773018	3	4	81	1	0	0	0	0	1	0	0	0	3468	933	33	4	922	4	CKAP5	11	46773018	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	46318	46773018	88233498	8559	12175											
CKAP5	9793	broad.mit.edu	37	11	46791594	46791594	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:46791594G>A	ENST00000529230.1	-	26	3287	c.3241C>T	c.(3241-3243)Cca>Tca	p.P1081S	CKAP5_ENST00000415402.1_Missense_Mutation_p.P1081S|CKAP5_ENST00000354558.3_Missense_Mutation_p.P1081S|CKAP5_ENST00000312055.5_Missense_Mutation_p.P1081S			Q14008	CKAP5_HUMAN	cytoskeleton associated protein 5	1081					cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization	centrosome|cytosol	protein binding			breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						GGCTTGGCTGGCATGTTAACT	0.443													9	113					0	0	1	0	0	A	46791594	G	A	46791594	3	1	81	1	0	0	0	0	1	0	0	0	3468	1203	42	2	2933	2	CKAP5	11	46791594	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	18576	46791594	88214922	8560	12176											
CKAP5	9793	broad.mit.edu	37	11	46812059	46812059	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:46812059T>A	ENST00000529230.1	-	14	1771	c.1725A>T	c.(1723-1725)aaA>aaT	p.K575N	CKAP5_ENST00000415402.1_Missense_Mutation_p.K575N|CKAP5_ENST00000354558.3_Missense_Mutation_p.K575N|CKAP5_ENST00000312055.5_Missense_Mutation_p.K575N			Q14008	CKAP5_HUMAN	cytoskeleton associated protein 5	575					cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization	centrosome|cytosol	protein binding			breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						TCTCCAGTCCTTTCTTGTTCT	0.443													28	52					0	0	1	0	0	A	46812059	T	A	46812059	3	1	81	1	0	0	0	0	1	0	0	0	3468	1606	56	5	4497	5	CKAP5	11	46812059	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	20465	46812059	88194457	8561	12177											
LRP4	4038	broad.mit.edu	37	11	46895013	46895013	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:46895013G>A	ENST00000378623.1	-	29	4603	c.4361C>T	c.(4360-4362)gCg>gTg	p.A1454V	LRP4-AS1_ENST00000531719.1_RNA|LRP4-AS1_ENST00000502049.2_RNA	NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	1454					endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		CAGCCTGGACGCCTCAATGGT	0.572													27	27					0	0	1	0	0	A	46895013	G	A	46895013	3	1	81	1	0	0	0	0	1	0	0	0	9004	1087	38	1	1396	1	LRP4	11	46895013	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	82954	46895013	88111503	8562	12178											
LRP4	4038	broad.mit.edu	37	11	46898317	46898317	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:46898317C>A	ENST00000378623.1	-	24	3584	c.3342G>T	c.(3340-3342)caG>caT	p.Q1114H		NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	1114					endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		TGTCCTCATGCTGTGAGCCAT	0.542													8	180					0.00829132	0.00865729	1	1	0	A	46898317	C	A	46898317	3	1	81	1	0	0	0	0	1	0	0	0	9004	796	28	4	2435	4	LRP4	11	46898317	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3304	46898317	88108199	8563	12179											
LRP4	4038	broad.mit.edu	37	11	46903448	46903448	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:46903448C>T	ENST00000378623.1	-	20	2861	c.2619G>A	c.(2617-2619)atG>atA	p.M873I		NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	873					endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		CAGTCCAATACATGTACCTGG	0.512													5	40					0	0	1	0	0	T	46903448	C	T	46903448	3	4	81	1	0	0	0	0	1	0	0	0	9004	478	17	2	3174	2	LRP4	11	46903448	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	5131	46903448	88103068	8564	12180											
LRP4	4038	broad.mit.edu	37	11	46911497	46911497	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:46911497G>A	ENST00000378623.1	-	15	2332	c.2090C>T	c.(2089-2091)gCa>gTa	p.A697V		NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	697					endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		TTTTTTACCTGCAGGTTGGCG	0.517											OREG0020948	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	22	30					0	0	1	0	0	A	46911497	G	A	46911497	3	1	81	1	0	0	0	0	1	0	0	0	9004	1319	46	2	3723	2	LRP4	11	46911497	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	8049	46911497	88095019	8565	12181											
LRP4	4038	broad.mit.edu	37	11	46920468	46920468	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:46920468G>A	ENST00000378623.1	-	6	905	c.663C>T	c.(661-663)gaC>gaT	p.D221D		NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	221	LDL-receptor class A 5.				endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		AGTCAGACTCGTCTGACCAGT	0.627													13	12					0	0	1	0	0	A	46920468	G	A	46920468	2	1	81	1	0	0	0	0	0	0	0	1	9004	1136	40	1		1	LRP4	11	46920468	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	8971	46920468	88086048	8566	12182											
LRP4	4038	broad.mit.edu	37	11	46921053	46921053	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:46921053G>A	ENST00000378623.1	-	5	674	c.432C>T	c.(430-432)gaC>gaT	p.D144D		NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	144	LDL-receptor class A 3.				endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		ACTTGCGCATGTCTGGGGGGA	0.607													15	52					0	0	1	0	0	A	46921053	G	A	46921053	5	1	81	1	0	0	0	0	0	0	1	0	9004	1391	48	2	5421	2	LRP4	11	46921053	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	585	46921053	88085463	8567	12183											
LRP4	4038	broad.mit.edu	37	11	46921489	46921489	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:46921489T>G	ENST00000378623.1	-	4	597	c.355A>C	c.(355-357)Aat>Cat	p.N119H		NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	119	LDL-receptor class A 3.				endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		CAGTAGCCATTCTGGCAGGGA	0.632													6	39					0	0	1	0	0	G	46921489	T	G	46921489	3	3	81	1	0	0	0	0	1	0	0	0	9004	1783	62	5	5502	5	LRP4	11	46921489	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	436	46921489	88085027	8568	12184											
C11orf49	79096	broad.mit.edu	37	11	47074068	47074068	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:47074068C>T	ENST00000395460.2	+	3	317	c.279C>T	c.(277-279)ggC>ggT	p.G93G	C11orf49_ENST00000543718.1_Intron|C11orf49_ENST00000527268.1_3'UTR|C11orf49_ENST00000378615.3_Splice_Site_p.G93G|C11orf49_ENST00000536126.1_5'UTR|C11orf49_ENST00000278460.7_Splice_Site_p.G93G|C11orf49_ENST00000378618.2_Splice_Site_p.G93G	NM_001003676.1	NP_001003676.1	Q9H6J7	CK049_HUMAN	chromosome 11 open reading frame 49	93										central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(1)	11						GCAAAAATGGCGGTAAGTCTT	0.463													26	29					0	0	1	0	0	T	47074068	C	T	47074068	5	4	81	1	0	0	0	0	0	0	1	0	1650	782	27	1	289	1	C11orf49	11	47074068	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	152579	47074068	87932448	8569	12185											
PACSIN3	29763	broad.mit.edu	37	11	47201080	47201080	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:47201080T>C	ENST00000539589.1	-	7	1003	c.661A>G	c.(661-663)Atg>Gtg	p.M221V	PACSIN3_ENST00000298838.6_Missense_Mutation_p.M221V	NM_001184975.1	NP_001171904.1	Q9UKS6	PACN3_HUMAN	protein kinase C and casein kinase substrate in neurons 3	221					endocytosis|negative regulation of endocytosis|positive regulation of membrane protein ectodomain proteolysis	cytoplasm|plasma membrane	cytoskeletal protein binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)	11						ATGTCCTCCATGTAGCGTGGA	0.577											OREG0020952	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	56					0	0	1	0	0	C	47201080	T	C	47201080	3	2	81	1	0	0	0	0	1	0	0	0	11423	1464	51	3	633	3	PACSIN3	11	47201080	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	127012	47201080	87805436	8570	12186											
PACSIN3	29763	broad.mit.edu	37	11	47202229	47202229	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:47202229C>A	ENST00000539589.1	-	5	566	c.224G>T	c.(223-225)gGc>gTc	p.G75V	PACSIN3_ENST00000298838.6_Missense_Mutation_p.G75V	NM_001184975.1	NP_001171904.1	Q9UKS6	PACN3_HUMAN	protein kinase C and casein kinase substrate in neurons 3	75					endocytosis|negative regulation of endocytosis|positive regulation of membrane protein ectodomain proteolysis	cytoplasm|plasma membrane	cytoskeletal protein binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)	11						CTCCAGTGTGCCATACTGGGG	0.642													3	11					1	1	1	1	0	A	47202229	C	A	47202229	3	1	81	1	0	0	0	0	1	0	0	0	11423	739	26	5	1078	5	PACSIN3	11	47202229	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1149	47202229	87804287	8571	12187											
DDB2	1643	broad.mit.edu	37	11	47256422	47256422	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:47256422C>T	ENST00000256996.4	+	6	1012	c.817C>T	c.(817-819)Cgc>Tgc	p.R273C	DDB2_ENST00000378601.3_Intron|DDB2_ENST00000378603.3_Missense_Mutation_p.R209C|DDB2_ENST00000378600.3_Intron	NM_000107.2	NP_000098.1	Q92466	DDB2_HUMAN	damage-specific DNA binding protein 2, 48kDa	273			R -> H (in XP-E; impairs interaction with DDB1 and CUL4A).		nucleotide-excision repair, DNA damage removal|protein autoubiquitination|protein polyubiquitination|response to UV	nucleoplasm|protein complex	damaged DNA binding|protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(1)	17						TTGGGACCTGCGCCAGGTTAG	0.537			"Mis, N"			"skin basal cell, skin squamous cell, melanoma"		Direct reversal of damage;Nucleotide excision repair (NER)	Xeroderma Pigmentosum				14	24					0	0	1	0	0	T	47256422	C	T	47256422	3	4	81	1	0	0	0	0	1	0	0	0	4347	768	27	1	839	1	DDB2	11	47256422	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	54193	47256422	87750094	8572	12188											
NR1H3	10062	broad.mit.edu	37	11	47282170	47282170	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:47282170G>A	ENST00000467728.1	+	3	1681	c.443G>A	c.(442-444)cGc>cAc	p.R148H	NR1H3_ENST00000527949.1_Missense_Mutation_p.R57H|NR1H3_ENST00000395397.3_Missense_Mutation_p.R103H|NR1H3_ENST00000407404.1_Missense_Mutation_p.R148H|NR1H3_ENST00000529540.1_3'UTR|NR1H3_ENST00000405853.3_Missense_Mutation_p.R148H|NR1H3_ENST00000481889.2_Missense_Mutation_p.R103H|NR1H3_ENST00000441012.2_Missense_Mutation_p.R148H|NR1H3_ENST00000405576.1_Missense_Mutation_p.R103H			Q13133	NR1H3_HUMAN	nuclear receptor subfamily 1, group H, member 3	148					apoptotic cell clearance|cellular response to lipopolysaccharide|cholesterol homeostasis|negative regulation of cholesterol storage|negative regulation of inflammatory response|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of lipid transport|negative regulation of macrophage activation|negative regulation of pancreatic juice secretion|negative regulation of pinocytosis|negative regulation of secretion of lysosomal enzymes|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of cholesterol homeostasis|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of receptor biosynthetic process|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of triglyceride biosynthetic process|regulation of circadian rhythm|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to progesterone stimulus|triglyceride homeostasis	nuclear chromatin|nucleoplasm	cholesterol binding|steroid hormone receptor activity|sterol response element binding|transcription coactivator activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(5)	20						TACATGCGTCGCAAGTGCCAG	0.622													5	8					0	0	1	0	0	A	47282170	G	A	47282170	3	1	81	1	0	0	0	0	1	0	0	0	10666	1087	38	1	453	1	NR1H3	11	47282170	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	25748	47282170	87724346	8573	12189											
NR1H3	10062	broad.mit.edu	37	11	47282815	47282815	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:47282815C>T	ENST00000467728.1	+	4	1761	c.523C>T	c.(523-525)Cgc>Tgc	p.R175C	NR1H3_ENST00000527949.1_Missense_Mutation_p.R84C|NR1H3_ENST00000395397.3_Missense_Mutation_p.R130C|NR1H3_ENST00000407404.1_Missense_Mutation_p.R175C|NR1H3_ENST00000529540.1_3'UTR|NR1H3_ENST00000405853.3_Missense_Mutation_p.R175C|NR1H3_ENST00000481889.2_Missense_Mutation_p.R130C|NR1H3_ENST00000441012.2_Missense_Mutation_p.R175C|NR1H3_ENST00000405576.1_Missense_Mutation_p.R130C			Q13133	NR1H3_HUMAN	nuclear receptor subfamily 1, group H, member 3	175					apoptotic cell clearance|cellular response to lipopolysaccharide|cholesterol homeostasis|negative regulation of cholesterol storage|negative regulation of inflammatory response|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of lipid transport|negative regulation of macrophage activation|negative regulation of pancreatic juice secretion|negative regulation of pinocytosis|negative regulation of secretion of lysosomal enzymes|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of cholesterol homeostasis|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of receptor biosynthetic process|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of triglyceride biosynthetic process|regulation of circadian rhythm|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to progesterone stimulus|triglyceride homeostasis	nuclear chromatin|nucleoplasm	cholesterol binding|steroid hormone receptor activity|sterol response element binding|transcription coactivator activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(5)	20						AGAACAGATCCGCCTGAAGAA	0.597													12	11					0	0	1	0	0	T	47282815	C	T	47282815	3	4	81	1	0	0	0	0	1	0	0	0	10666	652	23	1	537	1	NR1H3	11	47282815	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	645	47282815	87723701	8574	12190											
CELF1	10658	broad.mit.edu	37	11	47493832	47493832	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:47493832G>A	ENST00000395290.2	-	12	1417	c.1408C>T	c.(1408-1410)Cgg>Tgg	p.R470W	CELF1_ENST00000539455.1_5'UTR|CELF1_ENST00000532048.1_Missense_Mutation_p.R497W|CELF1_ENST00000358597.3_Missense_Mutation_p.R471W|CELF1_ENST00000361904.3_Missense_Mutation_p.R468W|CELF1_ENST00000310513.5_Missense_Mutation_p.R467W|CELF1_ENST00000531165.1_Missense_Mutation_p.R499W|CELF1_ENST00000395292.2_Missense_Mutation_p.R468W	NM_001025596.2|NM_001172640.1	NP_001020767.1|NP_001166111.1	Q92879	CELF1_HUMAN	CUGBP, Elav-like family member 1	471	RRM 3.				embryo development|mRNA splice site selection|regulation of RNA splicing|RNA interference	cytoplasm|nucleus|ribonucleoprotein complex	BRE binding|mRNA binding|nucleotide binding|translation repressor activity, nucleic acid binding			central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(2)	18						ACTTTAAGCCGCTTCATGCCA	0.517													122	112					0	0	1	0	0	A	47493832	G	A	47493832	3	1	81	1	0	0	0	0	1	0	0	0	3237	1086	38	1	53	1	CELF1	11	47493832	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	211017	47493832	87512684	8575	12191											
KBTBD4	55709	broad.mit.edu	37	11	47599055	47599055	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:47599055G>T	ENST00000533290.1	-	1	1286	c.572C>A	c.(571-573)gCc>gAc	p.A191D	KBTBD4_ENST00000525720.1_Missense_Mutation_p.A215D|KBTBD4_ENST00000526005.1_Missense_Mutation_p.A166D|KBTBD4_ENST00000395288.2_Missense_Mutation_p.A166D|KBTBD4_ENST00000430070.2_Missense_Mutation_p.A182D|NDUFS3_ENST00000533507.1_Intron			Q9NVX7	KBTB4_HUMAN	kelch repeat and BTB (POZ) domain containing 4	166	BACK.									NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	24						ACAGTGCTTGGCAGCCGTATA	0.542													57	83					3.4597e-24	4.5649e-24	1	1	0	T	47599055	G	T	47599055	3	4	81	1	0	0	0	0	1	0	0	0	8039	1203	42	5	1071	5	KBTBD4	11	47599055	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	105223	47599055	87407461	8576	12192											
MTCH2	23788	broad.mit.edu	37	11	47640456	47640456	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:47640456C>A	ENST00000302503.3	-	13	998	c.841G>T	c.(841-843)Gga>Tga	p.G281*	MTCH2_ENST00000534074.1_5'UTR|MTCH2_ENST00000542981.1_Nonsense_Mutation_p.G133*	NM_014342.3	NP_055157.1	Q9Y6C9	MTCH2_HUMAN	mitochondrial carrier 2	281					transport	integral to membrane|mitochondrial inner membrane				endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	11						AAGCTATTTCCTCGGCTCATA	0.413													6	111					0.00198382	0.00209725	1	1	0	A	47640456	C	A	47640456	4	1	81	1	0	0	0	0	0	1	0	0	9962	690	24	4	74	4	MTCH2	11	47640456	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	41401	47640456	87366060	8577	12193											
MTCH2	23788	broad.mit.edu	37	11	47647241	47647241	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:47647241G>T	ENST00000302503.3	-	11	891	c.734C>A	c.(733-735)gCt>gAt	p.A245D	MTCH2_ENST00000534074.1_5'UTR|MTCH2_ENST00000542981.1_Missense_Mutation_p.A97D	NM_014342.3	NP_055157.1	Q9Y6C9	MTCH2_HUMAN	mitochondrial carrier 2	245					transport	integral to membrane|mitochondrial inner membrane				endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	11						GTTGTTGACAGCCATAAGATT	0.403													48	58					4.25531e-23	5.60162e-23	1	1	0	T	47647241	G	T	47647241	3	4	81	1	0	0	0	0	1	0	0	0	9962	971	34	4	189	4	MTCH2	11	47647241	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	6785	47647241	87359275	8578	12194											
AGBL2	79841	broad.mit.edu	37	11	47707455	47707455	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:47707455G>A	ENST00000525123.1	-	11	2063	c.1778C>T	c.(1777-1779)gCa>gTa	p.A593V	AGBL2_ENST00000357610.3_Missense_Mutation_p.A593V|AGBL2_ENST00000529712.1_5'UTR|AGBL2_ENST00000528244.1_Missense_Mutation_p.A555V|AGBL2_ENST00000298861.4_Missense_Mutation_p.A593V	NM_024783.3	NP_079059.2	Q5U5Z8	CBPC2_HUMAN	ATP/GTP binding protein-like 2	593					proteolysis	cytosol	metallocarboxypeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)	34						CTTATCTGGTGCATTTTTGCA	0.358													59	99					0	0	1	0	0	A	47707455	G	A	47707455	3	1	81	1	0	0	0	0	1	0	0	0	373	1319	46	2	966	2	AGBL2	11	47707455	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	60214	47707455	87299061	8579	12195											
FNBP4	23360	broad.mit.edu	37	11	47767694	47767694	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:47767694G>T	ENST00000263773.5	-	7	1171	c.1159C>A	c.(1159-1161)Ctt>Att	p.L387I	FNBP4_ENST00000534003.1_5'UTR	NM_015308.2	NP_056123.2	Q8N3X1	FNBP4_HUMAN	formin binding protein 4	387										NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	44						ACACTGCAAAGATCCTCCTGA	0.383													24	173					3.6726e-16	4.70534e-16	1	1	0	T	47767694	G	T	47767694	3	4	81	1	0	0	0	0	1	0	0	0	6000	942	33	4	1938	4	FNBP4	11	47767694	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	60239	47767694	87238822	8580	12196											
NUP160	23279	broad.mit.edu	37	11	47819386	47819386	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:47819386G>A	ENST00000378460.2	-	27	3280	c.3234C>T	c.(3232-3234)caC>caT	p.H1078H	NUP160_ENST00000530326.1_Silent_p.H964H|NUP160_ENST00000528071.1_Silent_p.H964H	NM_015231.1	NP_056046.1	Q12769	NU160_HUMAN	nucleoporin 160kDa	1078					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding			NS(1)|biliary_tract(2)|breast(7)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(6)|prostate(2)|skin(2)|urinary_tract(2)	53						CATAGTAATTGTGAGTCATAA	0.433													28	42					0	0	1	0	0	A	47819386	G	A	47819386	2	1	81	1	0	0	0	0	0	0	0	1	10805	1368	48	2		2	NUP160	11	47819386	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	51692	47819386	87187130	8581	12197											
NUP160	23279	broad.mit.edu	37	11	47858490	47858490	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:47858490G>T	ENST00000378460.2	-	6	937	c.891C>A	c.(889-891)gcC>gcA	p.A297A	NUP160_ENST00000530326.1_Silent_p.A183A|NUP160_ENST00000528071.1_Silent_p.A183A|NUP160_ENST00000532747.1_3'UTR	NM_015231.1	NP_056046.1	Q12769	NU160_HUMAN	nucleoporin 160kDa	297					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding			NS(1)|biliary_tract(2)|breast(7)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(6)|prostate(2)|skin(2)|urinary_tract(2)	53						CAAAGATGAAGGCATCATGCT	0.418													5	63					0.0215528	0.0221217	1	1	0	T	47858490	G	T	47858490	2	4	81	1	0	0	0	0	0	0	0	1	10805	987	35	4		4	NUP160	11	47858490	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	39104	47858490	87148026	8582	12198											
PTPRJ	5795	broad.mit.edu	37	11	48166412	48166412	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:48166412A>C	ENST00000418331.2	+	13	3113	c.2761A>C	c.(2761-2763)Aag>Cag	p.K921Q		NM_002843.3	NP_002834.3	Q12913	PTPRJ_HUMAN	protein tyrosine phosphatase, receptor type, J	921				YNGKLEPLGSYR -> LQWEAGTSGLLP (in Ref. 2; BAA07035).	contact inhibition|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of T cell receptor signaling pathway|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression	cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane	beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity			breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						TTACAATGGGAAGCTGGAACC	0.458													6	132					0	0	1	0	0	C	48166412	A	C	48166412	3	2	81	1	0	0	0	0	1	0	0	0	12856	247	9	5	2820	5	PTPRJ	11	48166412	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	307922	48166412	86840104	8583	12199											
OR4X2	119764	broad.mit.edu	37	11	48267442	48267442	+	Missense_Mutation	SNP	G	G	A	rs137858399	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:48267442G>A	ENST00000302329.3	+	1	835	c.787G>A	c.(787-789)Gtg>Atg	p.V263M		NM_001004727.1	NP_001004727.1	Q8NGF9	OR4X2_HUMAN	olfactory receptor, family 4, subfamily X, member 2	263					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(4)|lung(12)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	20						AGACAAGATGGTGGCTGTGTT	0.507													29	46					0	0	1	0	0	A	48267442	G	A	48267442	3	1	81	1	0	0	0	0	1	0	0	0	11133	1261	44	2	789	2	OR4X2	11	48267442	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	101030	48267442	86739074	8584	12200											
OR4A47	403253	broad.mit.edu	37	11	48511062	48511062	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:48511062T>C	ENST00000446524.1	+	1	794	c.718T>C	c.(718-720)Tcc>Ccc	p.S240P		NM_001005512.2	NP_001005512.2	Q6IF82	O4A47_HUMAN	olfactory receptor, family 4, subfamily A, member 47	240					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2)	29						AACCTGCAGTTCCCACATGAC	0.413													100	118					0	0	1	0	0	C	48511062	T	C	48511062	3	2	81	1	0	0	0	0	1	0	0	0	11090	1783	62	3	720	3	OR4A47	11	48511062	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	243620	48511062	86495454	8585	12201											
FOLH1	2346	broad.mit.edu	37	11	49207246	49207246	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:49207246A>G	ENST00000340334.7	-	7	1124	c.756T>C	c.(754-756)ccT>ccC	p.P252P	FOLH1_ENST00000343844.4_Intron|FOLH1_ENST00000356696.3_Silent_p.P267P|FOLH1_ENST00000256999.2_Silent_p.P267P|FOLH1_ENST00000533034.1_Silent_p.P252P	NM_001193471.1|NM_001193472.1	NP_001180400.1|NP_001180401.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	267					proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)|L-Glutamic Acid(DB00142)	CTGGTGTGAGAGGGTCTCCTG	0.423													9	40					0	0	1	0	0	G	49207246	A	G	49207246	2	3	81	1	0	0	0	0	0	0	0	1	6012	291	11	3		3	FOLH1	11	49207246	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	696184	49207246	85799270	8586	12202											
FOLH1	2346	broad.mit.edu	37	11	49207305	49207305	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:49207305G>A	ENST00000340334.7	-	7	1065	c.697C>T	c.(697-699)Ctt>Ttt	p.L233F	FOLH1_ENST00000343844.4_Intron|FOLH1_ENST00000356696.3_Missense_Mutation_p.L248F|FOLH1_ENST00000256999.2_Missense_Mutation_p.L248F|FOLH1_ENST00000533034.1_Missense_Mutation_p.L233F	NM_001193471.1|NM_001193472.1	NP_001180400.1|NP_001180401.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	248					proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity	p.L248V(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)|L-Glutamic Acid(DB00142)	CCTCCAGGAAGATTCCAACCA	0.507													11	26					0	0	1	0	0	A	49207305	G	A	49207305	3	1	81	1	0	0	0	0	1	0	0	0	6012	942	33	2	1566	2	FOLH1	11	49207305	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	59	49207305	85799211	8587	12203											
OR4C13	283092	broad.mit.edu	37	11	49974251	49974251	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:49974251A>G	ENST00000555099.1	+	1	309	c.277A>G	c.(277-279)Aat>Gat	p.N93D		NM_001001955.2	NP_001001955.2	Q8NGP0	OR4CD_HUMAN	olfactory receptor, family 4, subfamily C, member 13	93					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	43						TATCTTATTCAATGGATGTAT	0.408													6	179					0	0	1	0	0	G	49974251	A	G	49974251	3	3	81	1	0	0	0	0	1	0	0	0	11095	130	5	3	279	3	OR4C13	11	49974251	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	766946	49974251	85032265	8588	12204											
OR4A5	81318	broad.mit.edu	37	11	51411583	51411583	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:51411583A>C	ENST00000319760.6	-	1	865	c.813T>G	c.(811-813)ttT>ttG	p.F271L		NM_001005272.3	NP_001005272.3	Q8NH83	OR4A5_HUMAN	olfactory receptor, family 4, subfamily A, member 5	271					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49		all_lung(304;0.236)				TAATGGTATAAAACACAGTCA	0.348													27	22					0	0	1	0	0	C	51411583	A	C	51411583	3	2	81	1	0	0	0	0	1	0	0	0	11091	11	1	5	138	5	OR4A5	11	51411583	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	1437332	51411583	83594933	8589	12205											
OR4A16	81327	broad.mit.edu	37	11	55110872	55110872	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:55110872C>T	ENST00000314721.2	+	1	246	c.196C>T	c.(196-198)Ctt>Ttt	p.L66F		NM_001005274.1	NP_001005274.1	Q8NH70	O4A16_HUMAN	olfactory receptor, family 4, subfamily A, member 16	66					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						CTACTTGTCACTTATGGATGC	0.448													11	165					0	0	1	0	0	T	55110872	C	T	55110872	3	4	81	1	0	0	0	0	1	0	0	0	11089	565	20	2	198	2	OR4A16	11	55110872	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3699289	55110872	79895644	8590	12206											
OR4C15	81309	broad.mit.edu	37	11	55321882	55321882	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:55321882C>T	ENST00000314644.2	+	1	100	c.100C>T	c.(100-102)Ctt>Ttt	p.L34F		NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C, member 15	0					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						GCAAATTTTCCTTTGTCCTAA	0.368										HNSCC(20;0.049)			51	105					0	0	1	0	0	T	55321882	C	T	55321882	3	4	81	1	0	0	0	0	1	0	0	0	11096	681	24	2	102	2	OR4C15	11	55321882	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	211010	55321882	79684634	8591	12207											
OR4C15	81309	broad.mit.edu	37	11	55321995	55321995	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:55321995G>T	ENST00000314644.2	+	1	213	c.213G>T	c.(211-213)caG>caT	p.Q71H		NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C, member 15	17					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						GACTTTCACAGAATCCAAATG	0.403										HNSCC(20;0.049)			62	115					1.93748e-29	2.58103e-29	1	1	0	T	55321995	G	T	55321995	3	4	81	1	0	0	0	0	1	0	0	0	11096	933	33	4	215	4	OR4C15	11	55321995	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	113	55321995	79684521	8592	12208											
OR5D13	390142	broad.mit.edu	37	11	55541189	55541189	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:55541189A>G	ENST00000361760.1	+	1	276	c.276A>G	c.(274-276)agA>agG	p.R92R		NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D, member 13	92					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				TGGAATACAGAACCATCTCTT	0.398													21	139					0	0	1	0	0	G	55541189	A	G	55541189	2	3	81	1	0	0	0	0	0	0	0	1	11201	243	9	3		3	OR5D13	11	55541189	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	219194	55541189	79465327	8593	12209											
OR5D13	390142	broad.mit.edu	37	11	55541339	55541339	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:55541339C>A	ENST00000361760.1	+	1	426	c.426C>A	c.(424-426)ctC>ctA	p.L142L		NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D, member 13	142					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				CTCAGAAGCTCTGTGCTCTTC	0.433													14	206					3.41278e-10	4.16681e-10	1	1	0	A	55541339	C	A	55541339	2	1	81	1	0	0	0	0	0	0	0	1	11201	900	32	4		4	OR5D13	11	55541339	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	150	55541339	79465177	8594	12210											
OR5D13	390142	broad.mit.edu	37	11	55541585	55541585	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:55541585C>T	ENST00000361760.1	+	1	672	c.672C>T	c.(670-672)ttC>ttT	p.F224F		NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D, member 13	224					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				TGCTTATTTTCACTACCATTA	0.438													20	67					0	0	1	0	0	T	55541585	C	T	55541585	2	4	81	1	0	0	0	0	0	0	0	1	11201	825	29	2		2	OR5D13	11	55541585	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	246	55541585	79464931	8595	12211											
OR5D14	219436	broad.mit.edu	37	11	55563455	55563455	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:55563455C>T	ENST00000335605.1	+	1	424	c.424C>T	c.(424-426)Ctc>Ttc	p.L142F		NM_001004735.1	NP_001004735.1	Q8NGL3	OR5DE_HUMAN	olfactory receptor, family 5, subfamily D, member 14	142					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48		all_epithelial(135;0.196)				GTCACAGAGGCTCTGTGCCCT	0.522													41	45					0	0	1	0	0	T	55563455	C	T	55563455	3	4	81	1	0	0	0	0	1	0	0	0	11202	797	28	2	426	2	OR5D14	11	55563455	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	21870	55563455	79443061	8596	12212											
OR5L2	26338	broad.mit.edu	37	11	55595089	55595089	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:55595089A>G	ENST00000378397.1	+	1	395	c.395A>G	c.(394-396)tAc>tGc	p.Y132C		NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L, member 2	132					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				CCCCTGCTGTACATGGTGACC	0.527										HNSCC(27;0.073)			56	146					0	0	1	0	0	G	55595089	A	G	55595089	3	3	81	1	0	0	0	0	1	0	0	0	11218	391	14	3	397	3	OR5L2	11	55595089	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	31634	55595089	79411427	8597	12213											
OR5D16	390144	broad.mit.edu	37	11	55606806	55606806	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:55606806C>A	ENST00000378396.1	+	1	579	c.579C>A	c.(577-579)gaC>gaA	p.D193E		NM_001005496.1	NP_001005496.1	Q8NGK9	OR5DG_HUMAN	olfactory receptor, family 5, subfamily D, member 16	193					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_epithelial(135;0.208)				CTTACCCTGACTCTTATCTCA	0.393													5	100					0.184627	0.18622	1	1	0	A	55606806	C	A	55606806	3	1	81	1	0	0	0	0	1	0	0	0	11203	564	20	4	581	4	OR5D16	11	55606806	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	11717	55606806	79399710	8598	12214											
OR5W2	390148	broad.mit.edu	37	11	55681569	55681569	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:55681569A>C	ENST00000344514.1	-	1	489	c.490T>G	c.(490-492)Ttc>Gtc	p.F164V		NM_001001960.1	NP_001001960.1	Q8NH69	OR5W2_HUMAN	olfactory receptor, family 5, subfamily W, member 2	164					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(28)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						CATAGGCGGAAGGCCAGTGTC	0.433													12	89					0	0	1	0	0	C	55681569	A	C	55681569	3	2	81	1	0	0	0	0	1	0	0	0	11232	72	3	5	444	5	OR5W2	11	55681569	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	74763	55681569	79324947	8599	12215											
OR5F1	338674	broad.mit.edu	37	11	55761475	55761475	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:55761475C>T	ENST00000278409.1	-	1	626	c.627G>A	c.(625-627)ggG>ggA	p.G209G		NM_003697.1	NP_003688.1	O95221	OR5F1_HUMAN	olfactory receptor, family 5, subfamily F, member 1	209					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58	Esophageal squamous(21;0.00448)					CAAGCAGAGTCCCCACAATAT	0.473													16	34					0	0	1	0	0	T	55761475	C	T	55761475	2	4	81	1	0	0	0	0	0	0	0	1	11205	842	30	2		2	OR5F1	11	55761475	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	79906	55761475	79245041	8600	12216											
OR5F1	338674	broad.mit.edu	37	11	55761668	55761668	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:55761668G>T	ENST00000278409.1	-	1	433	c.434C>A	c.(433-435)gCa>gAa	p.A145E		NM_003697.1	NP_003688.1	O95221	OR5F1_HUMAN	olfactory receptor, family 5, subfamily F, member 1	145					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58	Esophageal squamous(21;0.00448)					AGCCCCGGCTGCCATTTTTAG	0.502													26	25					3.08376e-08	3.65884e-08	1	1	0	T	55761668	G	T	55761668	3	4	81	1	0	0	0	0	1	0	0	0	11205	1319	46	5	513	5	OR5F1	11	55761668	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	193	55761668	79244848	8601	12217											
OR5F1	338674	broad.mit.edu	37	11	55762081	55762081	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:55762081G>T	ENST00000278409.1	-	1	20	c.21C>A	c.(19-21)acC>acA	p.T7T		NM_003697.1	NP_003688.1	O95221	OR5F1_HUMAN	olfactory receptor, family 5, subfamily F, member 1	7					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58	Esophageal squamous(21;0.00448)					CAGTCAGTGAGGTATAATTTT	0.308													5	77					3.59834e-05	3.99423e-05	1	1	0	T	55762081	G	T	55762081	2	4	81	1	0	0	0	0	0	0	0	1	11205	987	35	4		4	OR5F1	11	55762081	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	413	55762081	79244435	8602	12218											
OR8I2	120586	broad.mit.edu	37	11	55861327	55861327	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:55861327G>T	ENST00000302124.2	+	1	575	c.544G>T	c.(544-546)Gct>Tct	p.A182S		NM_001003750.1	NP_001003750.1	Q8N0Y5	OR8I2_HUMAN	olfactory receptor, family 8, subfamily I, member 2	182					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53	Esophageal squamous(21;0.00693)					TGACACCACAGCTCTTTTAGC	0.428													11	107					1.5842e-08	1.88841e-08	1	1	0	T	55861327	G	T	55861327	3	4	81	1	0	0	0	0	1	0	0	0	11287	971	34	4	546	4	OR8I2	11	55861327	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	99246	55861327	79145189	8603	12219											
OR8H2	390151	broad.mit.edu	37	11	55872744	55872744	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:55872744A>T	ENST00000313503.1	+	1	226	c.226A>T	c.(226-228)Act>Tct	p.T76S		NM_001005200.1	NP_001005200.1	Q8N162	OR8H2_HUMAN	olfactory receptor, family 8, subfamily H, member 2	76					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					CAGTTACTCAACTGTCGTCAC	0.433										HNSCC(53;0.14)			146	249					0	0	1	0	0	T	55872744	A	T	55872744	3	4	81	1	0	0	0	0	1	0	0	0	11285	43	2	5	228	5	OR8H2	11	55872744	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	11417	55872744	79133772	8604	12220											
OR8H2	390151	broad.mit.edu	37	11	55873189	55873189	+	Missense_Mutation	SNP	C	C	T	rs138370909		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:55873189C>T	ENST00000313503.1	+	1	671	c.671C>T	c.(670-672)aCc>aTc	p.T224I		NM_001005200.1	NP_001005200.1	Q8N162	OR8H2_HUMAN	olfactory receptor, family 8, subfamily H, member 2	224					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T224I(1)|p.T224M(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					ATTCTCTTTACCATCCTGAAA	0.388										HNSCC(53;0.14)			41	90					0	0	1	0	0	T	55873189	C	T	55873189	3	4	81	1	0	0	0	0	1	0	0	0	11285	507	18	2	673	2	OR8H2	11	55873189	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	445	55873189	79133327	8605	12221											
OR8J1	219477	broad.mit.edu	37	11	56128531	56128531	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:56128531C>A	ENST00000303039.3	+	1	841	c.809C>A	c.(808-810)aCt>aAt	p.T270N		NM_001005205.2	NP_001005205.2	Q8NGP2	OR8J1_HUMAN	olfactory receptor, family 8, subfamily J, member 1	270					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	47	Esophageal squamous(21;0.00448)					TCACTGGATACTGATGATAAG	0.423													64	87					8.33888e-18	1.07829e-17	1	1	0	A	56128531	C	A	56128531	3	1	81	1	0	0	0	0	1	0	0	0	11288	565	20	4	811	4	OR8J1	11	56128531	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	255342	56128531	78877985	8606	12222											
OR5M3	219482	broad.mit.edu	37	11	56237886	56237886	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:56237886G>A	ENST00000312240.2	-	1	128	c.88C>T	c.(88-90)Ctt>Ttt	p.L30F		NM_001004742.2	NP_001004742.2	Q8NGP4	OR5M3_HUMAN	olfactory receptor, family 5, subfamily M, member 3	30					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	37	Esophageal squamous(21;0.00448)					TAGACCACAAGAAAGATGATG	0.433													35	56					0	0	1	0	0	A	56237886	G	A	56237886	3	1	81	1	0	0	0	0	1	0	0	0	11222	942	33	2	837	2	OR5M3	11	56237886	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	109355	56237886	78768630	8607	12223											
OR5M8	219484	broad.mit.edu	37	11	56258291	56258291	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:56258291G>A	ENST00000327216.2	-	1	580	c.556C>T	c.(556-558)Ctg>Ttg	p.L186L		NM_001005282.1	NP_001005282.1	Q8NGP6	OR5M8_HUMAN	olfactory receptor, family 5, subfamily M, member 8	186					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(22)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Esophageal squamous(21;0.00352)					GAACAAGCCAGCTTAATCAGT	0.453													9	74					0	0	1	0	0	A	56258291	G	A	56258291	2	1	81	1	0	0	0	0	0	0	0	1	11223	962	34	2		2	OR5M8	11	56258291	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	20405	56258291	78748225	8608	12224											
OR5AK2	390181	broad.mit.edu	37	11	56756428	56756428	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:56756428C>A	ENST00000326855.2	+	1	82	c.40C>A	c.(40-42)Ctt>Att	p.L14I		NM_001005323.1	NP_001005323.1	Q8NH90	O5AK2_HUMAN	olfactory receptor, family 5, subfamily AK, member 2	14					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(3)|endometrium(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	21						TGAATTCTATCTTCTGGGATT	0.403													101	92					1.85599e-38	2.49022e-38	1	1	0	A	56756428	C	A	56756428	3	1	81	1	0	0	0	0	1	0	0	0	11189	913	32	4	42	4	OR5AK2	11	56756428	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	498137	56756428	78250088	8609	12225											
LRRC55	219527	broad.mit.edu	37	11	56949379	56949379	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:56949379C>T	ENST00000497933.1	+	1	159	c.12C>T	c.(10-12)agC>agT	p.S4S		NM_001005210.2	NP_001005210.1	Q6ZSA7	LRC55_HUMAN	leucine rich repeat containing 55	0						integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|skin(2)	25						TGCTCAGAAGCCCCACCTTCA	0.597													6	23					0	0	1	0	0	T	56949379	C	T	56949379	2	4	81	1	0	0	0	0	0	0	0	1	9056	738	26	2		2	LRRC55	11	56949379	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	192951	56949379	78057137	8610	12226											
LRRC55	219527	broad.mit.edu	37	11	56950053	56950053	+	Missense_Mutation	SNP	C	C	T	rs34696547		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:56950053C>T	ENST00000497933.1	+	1	833	c.686C>T	c.(685-687)cCg>cTg	p.P229L		NM_001005210.2	NP_001005210.1	Q6ZSA7	LRC55_HUMAN	leucine rich repeat containing 55	199	LRRCT.					integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|skin(2)	25						GAGGGCCTACCGGGGCTGGTG	0.637													52	59					0	0	1	0	0	T	56950053	C	T	56950053	3	4	81	1	0	0	0	0	1	0	0	0	9056	652	23	1	688	1	LRRC55	11	56950053	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	674	56950053	78056463	8611	12227											
APLNR	187	broad.mit.edu	37	11	57003773	57003773	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:57003773G>A	ENST00000606794.1	-	1	902	c.706C>T	c.(706-708)Cgc>Tgc	p.R236C		NM_005161.4	NP_005152.1	P35414	APJ_HUMAN	apelin receptor	236						integral to plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						CCCTCGATGCGTTCCTTGCGG	0.612													6	48					0	0	1	0	0	A	57003773	G	A	57003773	3	1	81	1	0	0	0	0	1	0	0	0	774	1145	40	1	440	1	APLNR	11	57003773	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	53720	57003773	78002743	8612	12228											
TNKS1BP1	85456	broad.mit.edu	37	11	57076180	57076180	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:57076180C>A	ENST00000532437.1	-	5	4316	c.4005G>T	c.(4003-4005)cgG>cgT	p.R1335R	TNKS1BP1_ENST00000358252.3_Silent_p.R1335R			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	1335	Acidic.|Gly-rich.				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				CTCCACATCCCCGTAGCCCCT	0.617													7	187					0.0381472	0.0389402	1	1	0	A	57076180	C	A	57076180	2	1	81	1	0	0	0	0	0	0	0	1	16380	610	22	5		5	TNKS1BP1	11	57076180	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	72407	57076180	77930336	8613	12229											
TNKS1BP1	85456	broad.mit.edu	37	11	57077271	57077271	+	Missense_Mutation	SNP	C	C	T	rs148640580	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:57077271C>T	ENST00000532437.1	-	5	3225	c.2914G>A	c.(2914-2916)Gcc>Acc	p.A972T	TNKS1BP1_ENST00000358252.3_Missense_Mutation_p.A972T			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	972	Acidic.				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				CTGTCCTGGGCGTCAAGGGTC	0.577													28	90					0	0	1	0	0	T	57077271	C	T	57077271	3	4	81	1	0	0	0	0	1	0	0	0	16380	768	27	1	2299	1	TNKS1BP1	11	57077271	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1091	57077271	77929245	8614	12230											
TNKS1BP1	85456	broad.mit.edu	37	11	57077411	57077411	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:57077411T>C	ENST00000532437.1	-	5	3085	c.2774A>G	c.(2773-2775)gAg>gGg	p.E925G	TNKS1BP1_ENST00000358252.3_Missense_Mutation_p.E925G|TNKS1BP1_ENST00000530920.1_5'UTR			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	925	Acidic.				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				CCAGTCCTGCTCATCGGCATC	0.572													11	146					0	0	1	0	0	C	57077411	T	C	57077411	3	2	81	1	0	0	0	0	1	0	0	0	16380	1551	54	3	2439	3	TNKS1BP1	11	57077411	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	140	57077411	77929105	8615	12231											
TNKS1BP1	85456	broad.mit.edu	37	11	57077836	57077836	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:57077836C>A	ENST00000532437.1	-	5	2660	c.2349G>T	c.(2347-2349)ggG>ggT	p.G783G	TNKS1BP1_ENST00000358252.3_Silent_p.G783G|TNKS1BP1_ENST00000530920.1_5'UTR			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	783	Acidic.				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding	p.G783G(1)		breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				TGCTCCCTTCCCCTGCTCCTT	0.627													10	77					1.58986e-06	1.82794e-06	1	1	0	A	57077836	C	A	57077836	2	1	81	1	0	0	0	0	0	0	0	1	16380	610	22	5		5	TNKS1BP1	11	57077836	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	425	57077836	77928680	8616	12232											
SSRP1	6749	broad.mit.edu	37	11	57094960	57094960	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:57094960C>A	ENST00000278412.2	-	15	2077	c.1811G>T	c.(1810-1812)aGg>aTg	p.R604M	RP11-872D17.4_ENST00000534162.1_RNA	NM_003146.2	NP_003137.1	Q08945	SSRP1_HUMAN	structure specific recognition protein 1	604					DNA repair|DNA replication|positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|cytoplasm|nucleoplasm	DNA binding|protein binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(4)	23						ATAGTCCCTCCTGGCATCCTC	0.502													18	170					2.4624e-09	2.97042e-09	1	1	0	A	57094960	C	A	57094960	3	1	81	1	0	0	0	0	1	0	0	0	15250	681	24	4	330	4	SSRP1	11	57094960	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	17124	57094960	77911556	8617	12233											
SLC43A3	29015	broad.mit.edu	37	11	57182424	57182424	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:57182424C>T	ENST00000395123.2	-	10	1229	c.925G>A	c.(925-927)Ggt>Agt	p.G309S	SLC43A3_ENST00000395124.1_Missense_Mutation_p.G309S|SLC43A3_ENST00000529554.1_Missense_Mutation_p.G309S|SLC43A3_ENST00000352187.1_Missense_Mutation_p.G309S|SLC43A3_ENST00000533524.1_Missense_Mutation_p.G322S	NM_001278201.1|NM_014096.2	NP_001265130.1|NP_054815.2	Q8NBI5	S43A3_HUMAN	solute carrier family 43, member 3	309					transmembrane transport	integral to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	27						ATGTCCCCACCGGCCATGTTG	0.592													12	57					0	0	1	0	0	T	57182424	C	T	57182424	3	4	81	1	0	0	0	0	1	0	0	0	14689	652	23	1	570	1	SLC43A3	11	57182424	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	87464	57182424	77824092	8618	12234											
RTN4RL2	349667	broad.mit.edu	37	11	57235240	57235240	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:57235240C>T	ENST00000335099.3	+	2	507	c.190C>T	c.(190-192)Cga>Tga	p.R64*	RTN4RL2_ENST00000395120.2_Nonsense_Mutation_p.R64*|RTN4RL2_ENST00000533205.1_Nonsense_Mutation_p.R64*	NM_178570.1	NP_848665.1	Q86UN3	R4RL2_HUMAN	reticulon 4 receptor-like 2	64					axon regeneration	anchored to plasma membrane	receptor activity			NS(1)|endometrium(1)|large_intestine(2)|lung(2)	6						CAGCACTCAGCGACTCTTCCT	0.622													40	60					0	0	1	0	0	T	57235240	C	T	57235240	4	4	81	1	0	0	0	0	0	1	0	0	13784	760	27	1	196	1	RTN4RL2	11	57235240	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	52816	57235240	77771276	8619	12235											
SLC43A1	8501	broad.mit.edu	37	11	57258700	57258700	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:57258700G>A	ENST00000278426.3	-	11	1545	c.1190C>T	c.(1189-1191)gCc>gTc	p.A397V	SLC43A1_ENST00000528450.1_Missense_Mutation_p.A397V	NM_003627.5	NP_003618.1	O75387	LAT3_HUMAN	solute carrier family 43 (amino acid system L transporter), member 1	397					cellular nitrogen compound metabolic process|ion transport	integral to plasma membrane	neutral amino acid transmembrane transporter activity			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						AGGTCACCTGGCATCTCCGAG	0.552													10	23					0	0	1	0	0	A	57258700	G	A	57258700	3	1	81	1	0	0	0	0	1	0	0	0	14687	1203	42	2	509	2	SLC43A1	11	57258700	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	23460	57258700	77747816	8620	12236											
SLC43A1	8501	broad.mit.edu	37	11	57268692	57268692	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:57268692C>T	ENST00000278426.3	-	3	620	c.265G>A	c.(265-267)Gcc>Acc	p.A89T	SLC43A1_ENST00000528450.1_Missense_Mutation_p.A89T	NM_003627.5	NP_003618.1	O75387	LAT3_HUMAN	solute carrier family 43 (amino acid system L transporter), member 1	89					cellular nitrogen compound metabolic process|ion transport	integral to plasma membrane	neutral amino acid transmembrane transporter activity			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						AGGGTGGTGGCGCTGAGCACG	0.652													19	40					0	0	1	0	0	T	57268692	C	T	57268692	3	4	81	1	0	0	0	0	1	0	0	0	14687	768	27	1	1466	1	SLC43A1	11	57268692	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	9992	57268692	77737824	8621	12237											
TIMM10	26519	broad.mit.edu	37	11	57296339	57296339	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:57296339C>A	ENST00000257245.4	-	3	276	c.124G>T	c.(124-126)Gag>Tag	p.E42*	TIMM10_ENST00000525158.1_Nonsense_Mutation_p.E42*|TIMM10_ENST00000525587.1_Nonsense_Mutation_p.E42*	NM_012456.2	NP_036588.1	P62072	TIM10_HUMAN	translocase of inner mitochondrial membrane 10 homolog (yeast)	42					protein import into mitochondrial inner membrane|sensory perception of sound|transmembrane transport	mitochondrial inner membrane presequence translocase complex|mitochondrial intermembrane space protein transporter complex	zinc ion binding			cervix(1)|large_intestine(2)	3						TTGGAGAGCTCTGCTTCCTTG	0.552													8	29					0.307466	0.308658	1	1	0	A	57296339	C	A	57296339	4	1	81	1	0	0	0	0	0	1	0	0	15965	922	32	4	152	4	TIMM10	11	57296339	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	27647	57296339	77710177	8622	12238											
UBE2L6	9246	broad.mit.edu	37	11	57322034	57322034	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:57322034C>T	ENST00000287156.4	-	3	381	c.186G>A	c.(184-186)ccG>ccA	p.P62P	UBE2L6_ENST00000340573.4_5'UTR	NM_004223.4	NP_004214.1	O14933	UB2L6_HUMAN	ubiquitin-conjugating enzyme E2L 6	62					negative regulation of type I interferon production	cytosol	protein binding|ubiquitin-protein ligase activity			large_intestine(1)|lung(3)|ovary(1)	5						GAGGCTTGAACGGATACTCCG	0.537													9	174					0	0	1	0	0	T	57322034	C	T	57322034	2	4	81	1	0	0	0	0	0	0	0	1	16925	523	19	1		1	UBE2L6	11	57322034	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	25695	57322034	77684482	8623	12239											
ZDHHC5	25921	broad.mit.edu	37	11	57466563	57466563	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:57466563G>A	ENST00000287169.3	+	11	3017	c.1655G>A	c.(1654-1656)cGc>cAc	p.R552H	ZDHHC5_ENST00000527985.1_Missense_Mutation_p.R499H	NM_015457.2	NP_056272.2	Q9C0B5	ZDHC5_HUMAN	zinc finger, DHHC-type containing 5	552						integral to membrane	acyltransferase activity|zinc ion binding			endometrium(6)|kidney(3)|large_intestine(3)|lung(5)|skin(1)	18						AAGTTGCTGCGCCAGTCACCC	0.617													40	47					0	0	1	0	0	A	57466563	G	A	57466563	3	1	81	1	0	0	0	0	1	0	0	0	17676	1087	38	1	1693	1	ZDHHC5	11	57466563	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	144529	57466563	77539953	8624	12240											
TMX2	51075	broad.mit.edu	37	11	57505440	57505440	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:57505440A>G	ENST00000278422.4	+	3	318	c.306A>G	c.(304-306)acA>acG	p.T102T	TMX2_ENST00000378312.4_Intron|TMX2-CTNND1_ENST00000528395.1_Intron	NM_015959.3	NP_057043.1	Q9Y320	TMX2_HUMAN	thioredoxin-related transmembrane protein 2	102					cell redox homeostasis	integral to membrane				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(2)	12						TGGCCAACACAATTCTTTTCT	0.428													9	168					0	0	1	0	0	G	57505440	A	G	57505440	2	3	81	1	0	0	0	0	0	0	0	1	16327	117	5	3		3	TMX2	11	57505440	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	38877	57505440	77501076	8625	12241											
CTNND1	1500	broad.mit.edu	37	11	57569568	57569568	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:57569568C>T	ENST00000524630.1	+	7	1833	c.1320C>T	c.(1318-1320)gaC>gaT	p.D440D	CTNND1_ENST00000531014.1_Silent_p.D117D|CTNND1_ENST00000529986.1_Silent_p.D339D|CTNND1_ENST00000529873.1_Silent_p.D386D|CTNND1_ENST00000415361.2_Silent_p.D339D|CTNND1_ENST00000399039.4_Silent_p.D440D|CTNND1_ENST00000360682.6_Silent_p.D440D|CTNND1_ENST00000527467.1_Silent_p.D117D|CTNND1_ENST00000530748.1_Silent_p.D386D|CTNND1_ENST00000361391.6_Silent_p.D440D|CTNND1_ENST00000534579.1_Silent_p.D386D|CTNND1_ENST00000528621.1_Silent_p.D386D|CTNND1_ENST00000426142.2_Silent_p.D339D|CTNND1_ENST00000525902.1_Silent_p.D117D|CTNND1_ENST00000428599.2_Silent_p.D440D|CTNND1_ENST00000361796.4_Silent_p.D440D|CTNND1_ENST00000361332.4_Silent_p.D440D|CTNND1_ENST00000532844.1_Silent_p.D386D|CTNND1_ENST00000532787.1_Silent_p.D339D|CTNND1_ENST00000533667.1_Silent_p.D117D|CTNND1_ENST00000526938.1_Silent_p.D440D|CTNND1_ENST00000530094.1_Silent_p.D339D|CTNND1_ENST00000529919.1_Silent_p.D440D|CTNND1_ENST00000399050.4_Silent_p.D440D|CTNND1_ENST00000529526.1_Silent_p.D386D|CTNND1_ENST00000526357.1_Silent_p.D386D|CTNND1_ENST00000526772.1_Silent_p.D117D|CTNND1_ENST00000532245.1_Silent_p.D339D|CTNND1_ENST00000532463.1_Silent_p.D339D|CTNND1_ENST00000358694.6_Silent_p.D440D|CTNND1_ENST00000532649.1_Silent_p.D386D|CTNND1_ENST00000528232.1_Silent_p.D339D			O60716	CTND1_HUMAN	catenin (cadherin-associated protein), delta 1	440					adherens junction organization|cell junction assembly|negative regulation of canonical Wnt receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	cytosol|midbody|nucleus	cadherin binding|protein binding|receptor binding			breast(5)|endometrium(8)|kidney(4)|large_intestine(7)|liver(2)|lung(16)|ovary(1)|upper_aerodigestive_tract(2)	45		all_epithelial(135;0.155)				TTGGACGTGACCAGGATAACA	0.473													72	172					0	0	1	0	0	T	57569568	C	T	57569568	2	4	81	1	0	0	0	0	0	0	0	1	4043	506	18	2		2	CTNND1	11	57569568	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	64128	57569568	77436948	8626	12242											
CTNND1	1500	broad.mit.edu	37	11	57577605	57577605	+	Silent	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:57577605A>T	ENST00000524630.1	+	15	2955	c.2442A>T	c.(2440-2442)cgA>cgT	p.R814R	CTNND1_ENST00000531014.1_Silent_p.R491R|CTNND1_ENST00000529986.1_Silent_p.R713R|CTNND1_ENST00000529873.1_Silent_p.R760R|CTNND1_ENST00000415361.2_Silent_p.R719R|CTNND1_ENST00000399039.4_Silent_p.R820R|CTNND1_ENST00000360682.6_Silent_p.R820R|CTNND1_ENST00000527467.1_Silent_p.R497R|CTNND1_ENST00000530748.1_Silent_p.R766R|CTNND1_ENST00000361391.6_Silent_p.R814R|CTNND1_ENST00000534579.1_Silent_p.R760R|CTNND1_ENST00000528621.1_Silent_p.R760R|CTNND1_ENST00000426142.2_Silent_p.R713R|CTNND1_ENST00000525902.1_Silent_p.R497R|CTNND1_ENST00000428599.2_Silent_p.R814R|CTNND1_ENST00000361796.4_Silent_p.R814R|CTNND1_ENST00000361332.4_Silent_p.R814R|CTNND1_ENST00000532844.1_Silent_p.R766R|CTNND1_ENST00000532787.1_Silent_p.R713R|CTNND1_ENST00000533667.1_Silent_p.R491R|CTNND1_ENST00000526938.1_Silent_p.R820R|CTNND1_ENST00000530094.1_Silent_p.R713R|CTNND1_ENST00000529919.1_Silent_p.R820R|CTNND1_ENST00000399050.4_Silent_p.R820R|CTNND1_ENST00000529526.1_Silent_p.R760R|CTNND1_ENST00000526357.1_Silent_p.R760R|CTNND1_ENST00000526772.1_Silent_p.R491R|CTNND1_ENST00000532245.1_Silent_p.R713R|CTNND1_ENST00000532463.1_Silent_p.R713R|CTNND1_ENST00000358694.6_Silent_p.R814R|CTNND1_ENST00000532649.1_Silent_p.R760R|CTNND1_ENST00000528232.1_Silent_p.R719R			O60716	CTND1_HUMAN	catenin (cadherin-associated protein), delta 1	820					adherens junction organization|cell junction assembly|negative regulation of canonical Wnt receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	cytosol|midbody|nucleus	cadherin binding|protein binding|receptor binding			breast(5)|endometrium(8)|kidney(4)|large_intestine(7)|liver(2)|lung(16)|ovary(1)|upper_aerodigestive_tract(2)	45		all_epithelial(135;0.155)				AAGAAGTTCGAGCAGCAGCAC	0.398													9	36					0	0	1	0	0	T	57577605	A	T	57577605	2	4	81	1	0	0	0	0	0	0	0	1	4043	291	11	5		5	CTNND1	11	57577605	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	8037	57577605	77428911	8627	12243											
OR9Q2	219957	broad.mit.edu	37	11	57958284	57958284	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:57958284G>A	ENST00000311591.3	+	1	379	c.322G>A	c.(322-324)Gcc>Acc	p.A108T		NM_001005283.2	NP_001005283.1	Q8NGE9	OR9Q2_HUMAN	olfactory receptor, family 9, subfamily Q, member 2	108					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(2)|endometrium(1)|large_intestine(3)|lung(24)|ovary(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41		Breast(21;0.0589)				CACCTTCTTTGCCTCCATCGA	0.587													28	80					0	0	1	0	0	A	57958284	G	A	57958284	3	1	81	1	0	0	0	0	1	0	0	0	11303	1319	46	2	324	2	OR9Q2	11	57958284	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	380679	57958284	77048232	8628	12244											
OR9Q2	219957	broad.mit.edu	37	11	57958410	57958410	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:57958410G>A	ENST00000311591.3	+	1	505	c.448G>A	c.(448-450)Gtt>Att	p.V150I		NM_001005283.2	NP_001005283.1	Q8NGE9	OR9Q2_HUMAN	olfactory receptor, family 9, subfamily Q, member 2	150					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(2)|endometrium(1)|large_intestine(3)|lung(24)|ovary(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41		Breast(21;0.0589)				TGGGGCTTACGTTGCTGGTTT	0.527													28	42					0	0	1	0	0	A	57958410	G	A	57958410	3	1	81	1	0	0	0	0	1	0	0	0	11303	1145	40	1	450	1	OR9Q2	11	57958410	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	126	57958410	77048106	8629	12245											
OR10Q1	219960	broad.mit.edu	37	11	57995808	57995808	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:57995808G>A	ENST00000316770.2	-	1	582	c.540C>T	c.(538-540)aaC>aaT	p.N180N		NM_001004471.2	NP_001004471.1	Q8NGQ4	O10Q1_HUMAN	olfactory receptor, family 10, subfamily Q, member 1	180					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)	35		Breast(21;0.0589)				AGAGGAAGTGGTTGATTTCCT	0.637													23	20					0	0	1	0	0	A	57995808	G	A	57995808	2	1	81	1	0	0	0	0	0	0	0	1	10964	1252	44	2		2	OR10Q1	11	57995808	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	37398	57995808	77010708	8630	12246											
OR10Q1	219960	broad.mit.edu	37	11	57996253	57996253	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:57996253A>G	ENST00000316770.2	-	1	137	c.95T>C	c.(94-96)tTc>tCc	p.F32S		NM_001004471.2	NP_001004471.1	Q8NGQ4	O10Q1_HUMAN	olfactory receptor, family 10, subfamily Q, member 1	32					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)	35		Breast(21;0.0589)				GAAGAGAAGGAAGAGAAGAAC	0.522													7	109					0	0	1	0	0	G	57996253	A	G	57996253	3	3	81	1	0	0	0	0	1	0	0	0	10964	246	9	3	868	3	OR10Q1	11	57996253	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	445	57996253	77010263	8631	12247											
OR10Q1	219960	broad.mit.edu	37	11	57996345	57996345	+	Translation_Start_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:57996345C>T	ENST00000316770.2	-	1	45	c.3G>A	c.(1-3)atG>atA	p.M1I		NM_001004471.2	NP_001004471.1	Q8NGQ4	O10Q1_HUMAN	olfactory receptor, family 10, subfamily Q, member 1	1					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)	35		Breast(21;0.0589)				TCCCCACAGGCATGTCTTATG	0.478													17	103					0	0	1	0	0	T	57996345	C	T	57996345	1	4	81	1	0	0	0	0	0	0	0	0	10964	710	25	2		2	OR10Q1	11	57996345	Translation_Start_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	92	57996345	77010171	8632	12248											
OR10W1	81341	broad.mit.edu	37	11	58035078	58035078	+	Missense_Mutation	SNP	G	G	T	rs142581541	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:58035078G>T	ENST00000395079.2	-	1	654	c.253C>A	c.(253-255)Ctc>Atc	p.L85I		NM_207374.3	NP_997257.2	Q8NGF6	O10W1_HUMAN	olfactory receptor, family 10, subfamily W, member 1	85					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(1)	26		Breast(21;0.0589)				CAGCCCAGGAGAGTGATGGTC	0.537													12	24					2.27111e-07	2.65192e-07	1	1	0	T	58035078	G	T	58035078	3	4	81	1	0	0	0	0	1	0	0	0	10969	942	33	4	668	4	OR10W1	11	58035078	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	38733	58035078	76971438	8633	12249											
OR5B17	219965	broad.mit.edu	37	11	58126179	58126179	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:58126179C>T	ENST00000357377.3	-	1	363	c.364G>A	c.(364-366)Gca>Aca	p.A122T		NM_001005489.1	NP_001005489.1	Q8NGF7	OR5BH_HUMAN	olfactory receptor, family 5, subfamily B, member 17	122					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A122T(1)		NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				CACACTGCTGCGTAGCGGTCA	0.478													4	53					0	0	1	0	0	T	58126179	C	T	58126179	3	4	81	1	0	0	0	0	1	0	0	0	11196	768	27	1	582	1	OR5B17	11	58126179	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	91101	58126179	76880337	8634	12250											
OR5B3	441608	broad.mit.edu	37	11	58170821	58170821	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:58170821A>G	ENST00000309403.2	-	1	61	c.62T>C	c.(61-63)cTg>cCg	p.L21P		NM_001005469.1	NP_001005469.1	Q8NH48	OR5B3_HUMAN	olfactory receptor, family 5, subfamily B, member 3	21					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(1)	34	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				GGGAACCTGCAGTTCTGAGTC	0.418													19	122					0	0	1	0	0	G	58170821	A	G	58170821	3	3	81	1	0	0	0	0	1	0	0	0	11199	188	7	3	884	3	OR5B3	11	58170821	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	44642	58170821	76835695	8635	12251											
OR5B2	390190	broad.mit.edu	37	11	58190027	58190027	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:58190027C>T	ENST00000302581.2	-	1	759	c.708G>A	c.(706-708)ttG>ttA	p.L236L		NM_001005566.2	NP_001005566.1	Q96R09	OR5B2_HUMAN	olfactory receptor, family 5, subfamily B, member 2	236					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				CACAGGTGGACAATGCTTTTT	0.428													6	66					0	0	1	0	0	T	58190027	C	T	58190027	2	4	81	1	0	0	0	0	0	0	0	1	11197	477	17	2		2	OR5B2	11	58190027	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	19206	58190027	76816489	8636	12252											
LPXN	9404	broad.mit.edu	37	11	58331658	58331658	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:58331658G>A	ENST00000528954.1	-	3	322	c.203C>T	c.(202-204)aCt>aTt	p.T68I	LPXN_ENST00000395074.2_Missense_Mutation_p.T63I|LPXN_ENST00000528489.1_Intron	NM_001143995.1	NP_001137467.1	O60711	LPXN_HUMAN	leupaxin	63					cell adhesion|protein complex assembly|signal transduction	cytoplasm	zinc ion binding			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				GATATTGGTAGTATACACGAG	0.303													11	35					0	0	1	0	0	A	58331658	G	A	58331658	3	1	81	1	0	0	0	0	1	0	0	0	8974	1029	36	2	1000	2	LPXN	11	58331658	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	141631	58331658	76674858	8637	12253											
ZFP91	80829	broad.mit.edu	37	11	58379786	58379786	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:58379786G>A	ENST00000316059.6	+	7	1064	c.893G>A	c.(892-894)cGt>cAt	p.R298H	ZFP91-CNTF_ENST00000389919.4_Missense_Mutation_p.R298H	NM_001197051.1|NM_053023.4	NP_001183980.1|NP_444251.1	Q96JP5	ZFP91_HUMAN	ZFP91 zinc finger protein	298					activation of NF-kappaB-inducing kinase activity|protein K63-linked ubiquitination	nucleus	nucleic acid binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	26		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				AAAAGTCCACGTTTACCCAAA	0.398													9	27					0	0	1	0	0	A	58379786	G	A	58379786	3	1	81	1	0	0	0	0	1	0	0	0	17713	1145	40	1	919	1	ZFP91	11	58379786	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	48128	58379786	76626730	8638	12254											
ZFP91	80829	broad.mit.edu	37	11	58380261	58380261	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:58380261G>A	ENST00000316059.6	+	8	1106	c.935G>A	c.(934-936)cGt>cAt	p.R312H	ZFP91-CNTF_ENST00000389919.4_Missense_Mutation_p.R312H	NM_001197051.1|NM_053023.4	NP_001183980.1|NP_444251.1	Q96JP5	ZFP91_HUMAN	ZFP91 zinc finger protein	312					activation of NF-kappaB-inducing kinase activity|protein K63-linked ubiquitination	nucleus	nucleic acid binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	26		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				CAGTATGTCCGTTGTGAGATG	0.403													10	117					0	0	1	0	0	A	58380261	G	A	58380261	3	1	81	1	0	0	0	0	1	0	0	0	17713	1145	40	1	965	1	ZFP91	11	58380261	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	475	58380261	76626255	8639	12255											
CNTF	1270	broad.mit.edu	37	11	58391922	58391922	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:58391922G>A	ENST00000361987.4	+	2	610	c.530G>A	c.(529-531)cGt>cAt	p.R177H	ZFP91-CNTF_ENST00000389919.4_3'UTR	NM_000614.3	NP_000605.1	P26441	CNTF_HUMAN	ciliary neurotrophic factor	177					ciliary neurotrophic factor-mediated signaling pathway|growth|negative regulation of neuron apoptosis|positive regulation of tyrosine phosphorylation of Stat3 protein		ciliary neurotrophic factor receptor binding|growth factor activity|interleukin-6 receptor binding			NS(1)|breast(1)|kidney(2)|large_intestine(4)|lung(1)|ovary(1)	10		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				CATGACCTTCGTTTCATTTCT	0.463													47	55					0	0	1	0	0	A	58391922	G	A	58391922	3	1	81	1	0	0	0	0	1	0	0	0	3660	1145	40	1	536	1	CNTF	11	58391922	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	11661	58391922	76614594	8640	12256											
GLYAT	10249	broad.mit.edu	37	11	58477642	58477642	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:58477642C>T	ENST00000344743.3	-	6	630		c.e6-1		GLYAT_ENST00000529732.1_Splice_Site|GLYAT_ENST00000278400.3_3'UTR	NM_201648.2	NP_964011.2	Q6IB77	GLYAT_HUMAN	glycine-N-acyltransferase						acyl-CoA metabolic process|response to toxin|xenobiotic metabolic process	mitochondrial matrix	glycine N-acyltransferase activity|glycine N-benzoyltransferase activity			NS(1)|autonomic_ganglia(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16		Breast(21;0.0044)|all_epithelial(135;0.0157)			Glycine(DB00145)	CTCTTGGTTGCTATGGAGGGT	0.393													7	54					0	0	1	0	0	T	58477642	C	T	58477642	5	4	81	1	0	0	0	0	0	0	1	0	6521	811	28	2	406	2	GLYAT	11	58477642	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	85720	58477642	76528874	8641	12257											
GLYATL1	92292	broad.mit.edu	37	11	58723154	58723154	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:58723154G>A	ENST00000300079.5	+	7	706	c.656G>A	c.(655-657)cGa>cAa	p.R219Q	GLYATL1_ENST00000317391.4_Missense_Mutation_p.R188Q|RP11-142C4.6_ENST00000533954.1_RNA	NM_001220496.1|NM_080661.3	NP_001207425.1|NP_542392.2	Q969I3	GLYL1_HUMAN	glycine-N-acyltransferase-like 1	188						mitochondrion	glycine N-acyltransferase activity	p.R219Q(1)|p.R188Q(1)		NS(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|skin(4)|urinary_tract(1)	34					Glycine(DB00145)	AACTGGAAGCGAGGGAAGAAT	0.498													11	56					0	0	1	0	0	A	58723154	G	A	58723154	3	1	81	1	0	0	0	0	1	0	0	0	6522	1058	37	1	682	1	GLYATL1	11	58723154	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	245512	58723154	76283362	8642	12258											
FAM111A	63901	broad.mit.edu	37	11	58920195	58920195	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:58920195C>T	ENST00000528737.1	+	5	3872	c.1054C>T	c.(1054-1056)Cgt>Tgt	p.R352C	FAM111A_ENST00000533703.1_Missense_Mutation_p.R352C|FAM111A_ENST00000420244.1_Missense_Mutation_p.R352C|FAM111A_ENST00000531147.1_Missense_Mutation_p.R352C|FAM111A_ENST00000361723.3_Missense_Mutation_p.R352C			Q96PZ2	F111A_HUMAN	family with sequence similarity 111, member A	352					proteolysis		serine-type endopeptidase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_epithelial(135;0.139)				ACTTCTTGTACGTCTCAGTGA	0.368													45	72					0	0	1	0	0	T	58920195	C	T	58920195	3	4	81	1	0	0	0	0	1	0	0	0	5430	536	19	1	1060	1	FAM111A	11	58920195	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	197041	58920195	76086321	8643	12259											
DTX4	23220	broad.mit.edu	37	11	58962747	58962747	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:58962747G>T	ENST00000227451.3	+	7	1545	c.1441G>T	c.(1441-1443)Ggg>Tgg	p.G481W	DTX4_ENST00000532982.1_Missense_Mutation_p.G375W	NM_015177.1	NP_055992.1	Q9Y2E6	DTX4_HUMAN	deltex homolog 4 (Drosophila)	481					Notch signaling pathway	cytoplasm	zinc ion binding			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	20		all_epithelial(135;0.125)				CCAACCTCCAGGGAAGATGGA	0.572													10	58					2.17888e-05	2.43576e-05	1	1	0	T	58962747	G	T	58962747	3	4	81	1	0	0	0	0	1	0	0	0	4823	1000	35	4	1467	4	DTX4	11	58962747	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	42552	58962747	76043769	8644	12260											
MPEG1	219972	broad.mit.edu	37	11	58979412	58979412	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:58979412C>T	ENST00000361050.3	-	1	1012	c.927G>A	c.(925-927)ccG>ccA	p.P309P		NM_001039396.1	NP_001034485.1	Q2M385	MPEG1_HUMAN	macrophage expressed 1	309	MACPF.					integral to membrane				NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(21)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		all_epithelial(135;0.125)				AGAAATGCAGCGGCAGGCCAG	0.557													9	20					0	0	1	0	0	T	58979412	C	T	58979412	2	4	81	1	0	0	0	0	0	0	0	1	9772	755	27	1		1	MPEG1	11	58979412	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	16665	58979412	76027104	8645	12261											
OR5A2	219981	broad.mit.edu	37	11	59190336	59190336	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:59190336A>C	ENST00000302040.4	-	1	113	c.91T>G	c.(91-93)Tta>Gta	p.L31V		NM_001001954.1	NP_001001954.1	Q8NGI9	OR5A2_HUMAN	olfactory receptor, family 5, subfamily A, member 2	31					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	21						CCCAGAAATAACATGAAAAGG	0.453													39	59					0	0	1	0	0	C	59190336	A	C	59190336	3	2	81	1	0	0	0	0	1	0	0	0	11187	40	2	5	885	5	OR5A2	11	59190336	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	210924	59190336	75816180	8646	12262											
OR5A1	219982	broad.mit.edu	37	11	59211585	59211585	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:59211585C>A	ENST00000302030.2	+	1	969	c.944C>A	c.(943-945)tCt>tAt	p.S315Y		NM_001004728.1	NP_001004728.1	Q8NGJ0	OR5A1_HUMAN	olfactory receptor, family 5, subfamily A, member 1	315					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	28						AAAGTGTTTTCTTAGGTCATG	0.443													30	79					1.2476e-16	1.60284e-16	1	1	0	A	59211585	C	A	59211585	3	1	81	1	0	0	0	0	1	0	0	0	11186	913	32	4	946	4	OR5A1	11	59211585	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	21249	59211585	75794931	8647	12263											
OR4D10	390197	broad.mit.edu	37	11	59245181	59245181	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:59245181C>A	ENST00000530162.1	+	1	336	c.279C>A	c.(277-279)tcC>tcA	p.S93S		NM_001004705.1	NP_001004705.1	Q8NGI6	OR4DA_HUMAN	olfactory receptor, family 4, subfamily D, member 10	93					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						AGACCATCTCCTTCAATCATT	0.423													44	82					2.13384e-23	2.81181e-23	1	1	0	A	59245181	C	A	59245181	2	1	81	1	0	0	0	0	0	0	0	1	11102	668	24	4		4	OR4D10	11	59245181	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	33596	59245181	75761335	8648	12264											
OR4D11	219986	broad.mit.edu	37	11	59271671	59271671	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:59271671C>T	ENST00000313253.1	+	1	623	c.623C>T	c.(622-624)aCc>aTc	p.T208I		NM_001004706.1	NP_001004706.1	Q8NGI4	OR4DB_HUMAN	olfactory receptor, family 4, subfamily D, member 11	208					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29						CTGGTCACTACCCTGTGGTTT	0.512													45	86					0	0	1	0	0	T	59271671	C	T	59271671	3	4	81	1	0	0	0	0	1	0	0	0	11103	507	18	2	625	2	OR4D11	11	59271671	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	26490	59271671	75734845	8649	12265											
OSBP	5007	broad.mit.edu	37	11	59344074	59344074	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:59344074C>T	ENST00000263847.1	-	14	2879	c.2400G>A	c.(2398-2400)tgG>tgA	p.W800*		NM_002556.2	NP_002547.1	P22059	OSBP1_HUMAN	oxysterol binding protein	800					lipid transport	Golgi membrane	oxysterol binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		all_epithelial(135;0.000236)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		GGCATGAGCTCCAGTCCTGTT	0.453													59	119					0	0	1	0	0	T	59344074	C	T	59344074	4	4	81	1	0	0	0	0	0	1	0	0	11320	856	30	2	27	2	OSBP	11	59344074	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	72403	59344074	75662442	8650	12266											
PATL1	219988	broad.mit.edu	37	11	59420449	59420449	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:59420449G>A	ENST00000300146.9	-	10	1248	c.1164C>T	c.(1162-1164)caC>caT	p.H388H		NM_152716.2	NP_689929.2	Q86TB9	PATL1_HUMAN	protein associated with topoisomerase II homolog 1 (yeast)	388	Region N; interaction with decapping machinery.				cytoplasmic mRNA processing body assembly|deadenylation-dependent decapping of nuclear-transcribed mRNA	cytoplasmic mRNA processing body	protein binding|RNA binding			central_nervous_system(1)|endometrium(2)|lung(5)|ovary(1)|prostate(2)	11						GACTGCTCCGGTGACTTCCTC	0.438													86	88					0	0	1	0	0	A	59420449	G	A	59420449	2	1	81	1	0	0	0	0	0	0	0	1	11522	1252	44	2		2	PATL1	11	59420449	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	76375	59420449	75586067	8651	12267											
OR10V1	390201	broad.mit.edu	37	11	59480455	59480455	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:59480455G>T	ENST00000307552.2	-	1	882	c.864C>A	c.(862-864)ccC>ccA	p.P288P		NM_001005324.1	NP_001005324.1	Q8NGI7	O10V1_HUMAN	olfactory receptor, family 10, subfamily V, member 1	288					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(3)|liver(1)|lung(10)|skin(1)	16						TATAGATCAAGGGGTTTAAAA	0.433													53	83					4.25531e-23	5.60162e-23	1	1	0	T	59480455	G	T	59480455	2	4	81	1	0	0	0	0	0	0	0	1	10968	987	35	4		4	OR10V1	11	59480455	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	60006	59480455	75526061	8652	12268											
GIF	2694	broad.mit.edu	37	11	59604792	59604792	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:59604792C>T	ENST00000541311.1	-	6	885	c.651G>A	c.(649-651)aaG>aaA	p.K217K	GIF_ENST00000257248.2_Silent_p.K242K			P27352	IF_HUMAN	gastric intrinsic factor (vitamin B synthesis)	242					cobalamin metabolic process|cobalamin transport|cobalt ion transport	apical plasma membrane|endosome|extracellular space|microvillus	cobalamin binding			large_intestine(4)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	17						AGTTCCATTCCTTTTTAGATG	0.448													18	25					0	0	1	0	0	T	59604792	C	T	59604792	2	4	81	1	0	0	0	0	0	0	0	1	6418	680	24	2		2	GIF	11	59604792	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	124337	59604792	75401724	8653	12269											
MS4A3	932	broad.mit.edu	37	11	59828745	59828745	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:59828745G>T	ENST00000278865.3	+	2	185	c.112G>T	c.(112-114)Gat>Tat	p.D38Y	MS4A3_ENST00000526199.1_3'UTR|MS4A3_ENST00000534744.1_Missense_Mutation_p.D38Y|MS4A3_ENST00000395032.2_Intron|MS4A3_ENST00000358152.2_Missense_Mutation_p.D38Y	NM_006138.4	NP_006129.4	Q96HJ5	MS4A3_HUMAN	membrane-spanning 4-domains, subfamily A, member 3 (hematopoietic cell-specific)	38				D -> N (in Ref. 1; AAA62319).		endomembrane system|integral to membrane|perinuclear region of cytoplasm	protein binding|receptor activity			endometrium(4)|kidney(2)|lung(9)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21		all_epithelial(135;0.245)				CCAGCCCATAGATGGATCACC	0.453													36	59					1.47244e-24	1.94452e-24	1	1	0	T	59828745	G	T	59828745	3	4	81	1	0	0	0	0	1	0	0	0	9910	942	33	4	114	4	MS4A3	11	59828745	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	223953	59828745	75177771	8654	12270											
MS4A6A	64231	broad.mit.edu	37	11	59940569	59940569	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:59940569G>A	ENST00000420732.2	-	6	555	c.479C>T	c.(478-480)gCt>gTt	p.A160V	MS4A6A_ENST00000529054.1_Silent_p.L223L|MS4A6A_ENST00000412309.2_Silent_p.L223L|MS4A6A_ENST00000426738.2_Silent_p.L150L|MS4A6A_ENST00000533023.1_Missense_Mutation_p.A96V|MS4A6A_ENST00000528851.1_Silent_p.L195L|MS4A6A_ENST00000530839.1_Silent_p.L195L|MS4A6A_ENST00000323961.3_Silent_p.L195L			Q9H2W1	M4A6A_HUMAN	membrane-spanning 4-domains, subfamily A, member 6A	0						integral to membrane	receptor activity			endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CAGAATTCCAGCAGAGTGCAA	0.498													62	64					0	0	1	0	0	A	59940569	G	A	59940569	3	1	81	1	0	0	0	0	1	0	0	0	9913	971	34	2	198	2	MS4A6A	11	59940569	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	111824	59940569	75065947	8655	12271											
MS4A4A	51338	broad.mit.edu	37	11	60075626	60075626	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:60075626C>T	ENST00000355131.3	+	8	861	c.638C>T	c.(637-639)tCt>tTt	p.S213F	MS4A4A_ENST00000337908.4_Missense_Mutation_p.S232F|MS4A4A_ENST00000395016.3_Missense_Mutation_p.S213F|MS4A4A_ENST00000532114.1_Missense_Mutation_p.S179F	NM_024021.3	NP_076926.2	Q96JQ5	M4A4A_HUMAN	membrane-spanning 4-domains, subfamily A, member 4A	232						integral to membrane	receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(12)|prostate(1)|skin(4)	23						GAAACAGCATCTCCCACACCA	0.448													36	66					0	0	1	0	0	T	60075626	C	T	60075626	3	4	81	1	0	0	0	0	1	0	0	0	9911	913	32	2	721	2	MS4A4A	11	60075626	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	135057	60075626	74930890	8656	12272											
MS4A5	64232	broad.mit.edu	37	11	60198381	60198381	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:60198381T>C	ENST00000300190.2	+	2	352	c.266T>C	c.(265-267)tTc>tCc	p.F89S	MS4A5_ENST00000534071.1_3'UTR	NM_023945.2	NP_076434.2	Q9H3V2	MS4A5_HUMAN	membrane-spanning 4-domains, subfamily A, member 5	89						integral to membrane	receptor activity			large_intestine(7)|lung(7)|ovary(1)|skin(1)	16						GGATATCCATTCTGGGGCTCT	0.368													13	100					0	0	1	0	0	C	60198381	T	C	60198381	3	2	81	1	0	0	0	0	1	0	0	0	9912	1783	62	3	272	3	MS4A5	11	60198381	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	122755	60198381	74808135	8657	12273											
MS4A1	931	broad.mit.edu	37	11	60230540	60230540	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:60230540G>T	ENST00000534668.1	+	3	514	c.225G>T	c.(223-225)ggG>ggT	p.G75G	MS4A1_ENST00000345732.4_Silent_p.G75G|MS4A1_ENST00000532073.1_Silent_p.G75G|MS4A1_ENST00000534503.1_3'UTR|MS4A1_ENST00000389939.2_Silent_p.G75G|MS4A1_ENST00000528313.1_Intron	NM_152866.2	NP_690605.1	P11836	CD20_HUMAN	membrane-spanning 4-domains, subfamily A, member 1	75	Epitope 1.				B cell activation|immune response	integral to plasma membrane				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24					Ibritumomab(DB00078)|Rituximab(DB00073)|Tositumomab(DB00081)	TCCCAGCAGGGATCTATGCAC	0.517													11	133					1.5842e-08	1.88841e-08	1	1	0	T	60230540	G	T	60230540	2	4	81	1	0	0	0	0	0	0	0	1	9903	1161	41	5		5	MS4A1	11	60230540	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	32159	60230540	74775976	8658	12274											
MS4A1	931	broad.mit.edu	37	11	60234484	60234484	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:60234484C>A	ENST00000534668.1	+	6	915	c.626C>A	c.(625-627)gCt>gAt	p.A209D	MS4A1_ENST00000345732.4_Missense_Mutation_p.A209D|MS4A1_ENST00000532073.1_Missense_Mutation_p.A196D|MS4A1_ENST00000389939.2_Missense_Mutation_p.A209D|MS4A1_ENST00000528313.1_Missense_Mutation_p.A42D	NM_152866.2	NP_690605.1	P11836	CD20_HUMAN	membrane-spanning 4-domains, subfamily A, member 1	209					B cell activation|immune response	integral to plasma membrane				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24					Ibritumomab(DB00078)|Rituximab(DB00073)|Tositumomab(DB00081)	CTTGTAATAGCTGGCATCGTT	0.423													37	56					1.08169e-08	1.29238e-08	1	1	0	A	60234484	C	A	60234484	3	1	81	1	0	0	0	0	1	0	0	0	9903	797	28	4	644	4	MS4A1	11	60234484	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3944	60234484	74772032	8659	12275											
MS4A10	341116	broad.mit.edu	37	11	60567302	60567302	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:60567302C>T	ENST00000308287.1	+	8	820	c.724C>T	c.(724-726)Ctc>Ttc	p.L242F		NM_206893.3	NP_996776.2	Q96PG2	M4A10_HUMAN	membrane-spanning 4-domains, subfamily A, member 10	242						integral to membrane	receptor activity			endometrium(1)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|skin(2)	21						ttcatgcaggctcagagaagt	0.463													4	4					0	0	1	0	0	T	60567302	C	T	60567302	5	4	81	1	0	0	0	0	0	0	1	0	9904	811	28	2	750	2	MS4A10	11	60567302	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	332818	60567302	74439214	8660	12276											
ZP1	22917	broad.mit.edu	37	11	60638464	60638464	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:60638464C>T	ENST00000278853.5	+	5	861	c.861C>T	c.(859-861)gtC>gtT	p.V287V		NM_207341.2	NP_997224.2	P60852	ZP1_HUMAN	zona pellucida glycoprotein 1 (sperm receptor)	287	ZP.				single fertilization	integral to membrane|plasma membrane|proteinaceous extracellular matrix				breast(3)|endometrium(2)|large_intestine(8)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						GCTACTTCGTCCTCGTAGTGT	0.582													9	190					0	0	1	0	0	T	60638464	C	T	60638464	2	4	81	1	0	0	0	0	0	0	0	1	18257	842	30	2		2	ZP1	11	60638464	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	71162	60638464	74368052	8661	12277											
ZP1	22917	broad.mit.edu	37	11	60641122	60641122	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:60641122C>T	ENST00000278853.5	+	9	1446	c.1446C>T	c.(1444-1446)ggC>ggT	p.G482G		NM_207341.2	NP_997224.2	P60852	ZP1_HUMAN	zona pellucida glycoprotein 1 (sperm receptor)	482	ZP.				single fertilization	integral to membrane|plasma membrane|proteinaceous extracellular matrix				breast(3)|endometrium(2)|large_intestine(8)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						CTTTCAAGGGCGACAGCTACA	0.582													34	65					0	0	1	0	0	T	60641122	C	T	60641122	2	4	81	1	0	0	0	0	0	0	0	1	18257	755	27	1		1	ZP1	11	60641122	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2658	60641122	74365394	8662	12278											
TMEM109	79073	broad.mit.edu	37	11	60689458	60689458	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:60689458C>T	ENST00000227525.3	+	4	956	c.553C>T	c.(553-555)Cgg>Tgg	p.R185W	RP11-881M11.4_ENST00000543907.1_RNA|TMEM109_ENST00000536171.1_Missense_Mutation_p.R185W	NM_024092.2	NP_076997.1	Q9BVC6	TM109_HUMAN	transmembrane protein 109	185						integral to membrane|nuclear outer membrane|sarcoplasmic reticulum membrane		p.R185W(1)		central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1)	8						CCCTTCCACCCGGGCCCTGCT	0.672													38	51					0	0	1	0	0	T	60689458	C	T	60689458	3	4	81	1	0	0	0	0	1	0	0	0	16085	643	23	1	563	1	TMEM109	11	60689458	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	48336	60689458	74317058	8663	12279											
TMEM132A	54972	broad.mit.edu	37	11	60701095	60701095	+	Missense_Mutation	SNP	C	C	T	rs151003082		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:60701095C>T	ENST00000005286.4	+	8	1594	c.1441C>T	c.(1441-1443)Cgc>Tgc	p.R481C	TMEM132A_ENST00000453848.2_Missense_Mutation_p.R480C	NM_017870.3|NM_178031.2	NP_060340.2|NP_821174.1	Q24JP5	T132A_HUMAN	transmembrane protein 132A	480						endoplasmic reticulum membrane|Golgi membrane|integral to membrane		p.R481C(2)		breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						CTTCTGGTGGCGCCGGCTCCG	0.711													12	14					0	0	1	0	0	T	60701095	C	T	60701095	3	4	81	1	0	0	0	0	1	0	0	0	16105	768	27	1	1471	1	TMEM132A	11	60701095	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	11637	60701095	74305421	8664	12280											
SLC15A3	51296	broad.mit.edu	37	11	60708695	60708695	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:60708695C>T	ENST00000227880.3	-	5	1408	c.1175G>A	c.(1174-1176)cGc>cAc	p.R392H		NM_016582.2	NP_057666.1	Q8IY34	S15A3_HUMAN	solute carrier family 15 (oligopeptide transporter), member 3	392					oligopeptide transport|protein transport	integral to membrane|lysosomal membrane	peptide:hydrogen symporter activity			central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)	17						GTCGATCAAGCGGTCCTTCAG	0.577													12	12					0	0	1	0	0	T	60708695	C	T	60708695	3	4	81	1	0	0	0	0	1	0	0	0	14455	768	27	1	586	1	SLC15A3	11	60708695	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	7600	60708695	74297821	8665	12281											
CD5	921	broad.mit.edu	37	11	60889372	60889372	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:60889372C>T	ENST00000347785.3	+	6	1261	c.1095C>T	c.(1093-1095)gtC>gtT	p.V365V		NM_014207.3	NP_055022.2	P06127	CD5_HUMAN	CD5 molecule	365	SRCR 3.				cell proliferation|cell recognition	integral to plasma membrane	scavenger receptor activity			central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_lung(304;5.94e-05)|Lung NSC(402;7.26e-05)		BRCA - Breast invasive adenocarcinoma(625;0.000946)|Lung(977;0.0086)|LUSC - Lung squamous cell carcinoma(625;0.0528)		AGGTGTTTGTCACATGTGAGT	0.552													13	21					0	0	1	0	0	T	60889372	C	T	60889372	2	4	81	1	0	0	0	0	0	0	0	1	3043	813	29	2		2	CD5	11	60889372	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	180677	60889372	74117144	8666	12282											
VWCE	220001	broad.mit.edu	37	11	61026580	61026580	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:61026580G>A	ENST00000335613.5	-	20	2821	c.2435C>T	c.(2434-2436)aCt>aTt	p.T812I	VWCE_ENST00000535710.1_Missense_Mutation_p.T277I	NM_152718.2	NP_689931.2	Q96DN2	VWCE_HUMAN	von Willebrand factor C and EGF domains	812						extracellular region	calcium ion binding			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						TGTAGGTAAAGTCTGTGTTTT	0.582													13	20					0	0	1	0	0	A	61026580	G	A	61026580	3	1	81	1	0	0	0	0	1	0	0	0	17305	1029	36	2	436	2	VWCE	11	61026580	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	137208	61026580	73979936	8667	12283											
DDB1	1642	broad.mit.edu	37	11	61070156	61070156	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:61070156C>T	ENST00000301764.7	-	24	3407	c.3010G>A	c.(3010-3012)Gtc>Atc	p.V1004I	DDB1_ENST00000450997.2_Missense_Mutation_p.V315I|DDB1_ENST00000538470.1_Missense_Mutation_p.V51I|DDB1_ENST00000451943.2_5'UTR	NM_001923.4	NP_001914.3	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1, 127kDa	1004	Interaction with CDT1 and CUL4A.				cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm	damaged DNA binding|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						AAGACATTGACAAACTCGCCC	0.562								Nucleotide excision repair (NER)					10	121					0	0	1	0	0	T	61070156	C	T	61070156	3	4	81	1	0	0	0	0	1	0	0	0	4346	478	17	2	428	2	DDB1	11	61070156	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	43576	61070156	73936360	8668	12284											
DAK	26007	broad.mit.edu	37	11	61109300	61109300	+	Missense_Mutation	SNP	C	C	A	rs142253953		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:61109300C>A	ENST00000394900.3	+	7	800	c.571C>A	c.(571-573)Ctg>Atg	p.L191M		NM_015533.3	NP_056348.2	Q3LXA3	DHAK_HUMAN	dihydroxyacetone kinase 2 homolog (S. cerevisiae)	191	DhaK.				glycerol metabolic process	cytosol	ATP binding|FAD-AMP lyase (cyclizing) activity|glycerone kinase activity|metal ion binding			NS(1)|breast(3)|endometrium(3)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	23						CATAGGTACCCTGGGGGTGAG	0.592													9	150					0.00621372	0.00649472	1	1	0	A	61109300	C	A	61109300	3	1	81	1	0	0	0	0	1	0	0	0	4252	680	24	4	593	4	DAK	11	61109300	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	39144	61109300	73897216	8669	12285											
TMEM138	51524	broad.mit.edu	37	11	61135448	61135448	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:61135448G>A	ENST00000278826.6	+	4	913	c.354G>A	c.(352-354)atG>atA	p.M118I	TMEM138_ENST00000542946.1_3'UTR|TMEM138_ENST00000381787.2_Missense_Mutation_p.M60I	NM_016464.4	NP_057548.1	Q9NPI0	TM138_HUMAN	transmembrane protein 138	118						integral to membrane				central_nervous_system(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	5						GACTTCAAATGCTGTTTGTAT	0.478													55	258					0	0	1	0	0	A	61135448	G	A	61135448	3	1	81	1	0	0	0	0	1	0	0	0	16113	1319	46	2	364	2	TMEM138	11	61135448	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	26148	61135448	73871068	8670	12286											
CPSF7	79869	broad.mit.edu	37	11	61196686	61196686	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:61196686T>C	ENST00000340437.4	-	2	231	c.151A>G	c.(151-153)Att>Gtt	p.I51V	CPSF7_ENST00000439958.3_Missense_Mutation_p.I8V|CPSF7_ENST00000394888.4_Missense_Mutation_p.I8V|CPSF7_ENST00000541963.1_Missense_Mutation_p.I8V|CPSF7_ENST00000448745.1_Missense_Mutation_p.I8V	NM_024811.3	NP_079087.3	Q8N684	CPSF7_HUMAN	cleavage and polyadenylation specific factor 7, 59kDa	8	Poly-Pro.				mRNA 3'-end processing|nuclear mRNA splicing, via spliceosome|protein tetramerization|termination of RNA polymerase II transcription	mRNA cleavage factor complex	nucleotide binding|protein binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	22						TATATATCAATCAAGTCCACT	0.478													70	85					0	0	1	0	0	C	61196686	T	C	61196686	3	2	81	1	0	0	0	0	1	0	0	0	3853	1435	50	3	1425	3	CPSF7	11	61196686	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	61238	61196686	73809830	8671	12287											
DAGLA	747	broad.mit.edu	37	11	61488197	61488197	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:61488197C>T	ENST00000257215.5	+	3	258	c.142C>T	c.(142-144)Cac>Tac	p.H48Y		NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN	diacylglycerol lipase, alpha	48					cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		CTATAACCCGCACGAGGCCTG	0.617													4	53					0	0	1	0	0	T	61488197	C	T	61488197	3	4	81	1	0	0	0	0	1	0	0	0	4250	710	25	2	148	2	DAGLA	11	61488197	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	291511	61488197	73518319	8672	12288											
DAGLA	747	broad.mit.edu	37	11	61490361	61490361	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:61490361T>C	ENST00000257215.5	+	4	454	c.338T>C	c.(337-339)aTc>aCc	p.I113T		NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN	diacylglycerol lipase, alpha	113					cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		ATCTACGCCATCGTGGGCATC	0.602													5	86					0	0	1	0	0	C	61490361	T	C	61490361	3	2	81	1	0	0	0	0	1	0	0	0	4250	1435	50	3	348	3	DAGLA	11	61490361	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	2164	61490361	73516155	8673	12289											
DAGLA	747	broad.mit.edu	37	11	61507019	61507019	+	Missense_Mutation	SNP	C	C	T	rs150967936		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:61507019C>T	ENST00000257215.5	+	17	1855	c.1739C>T	c.(1738-1740)aCg>aTg	p.T580M		NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN	diacylglycerol lipase, alpha	580					cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		CTGGCCAGCACGCGGCTCTGG	0.657													21	44					0	0	1	0	0	T	61507019	C	T	61507019	3	4	81	1	0	0	0	0	1	0	0	0	4250	536	19	1	1801	1	DAGLA	11	61507019	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	16658	61507019	73499497	8674	12290											
FADS2	9415	broad.mit.edu	37	11	61608110	61608110	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:61608110G>T	ENST00000278840.4	+	4	1161	c.531G>T	c.(529-531)tgG>tgT	p.W177C	FADS2_ENST00000257261.6_Missense_Mutation_p.W155C|FADS2_ENST00000522056.1_Missense_Mutation_p.W146C|FADS2_ENST00000521849.1_Missense_Mutation_p.W177C	NM_004265.2	NP_004256.1	O95864	FADS2_HUMAN	fatty acid desaturase 2	177					electron transport chain|transport|unsaturated fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction	heme binding			breast(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	20					Alpha-Linolenic Acid(DB00132)	AAGCTGGATGGCTGCAACATG	0.542													51	92					1.72184e-34	2.30426e-34	1	1	0	T	61608110	G	T	61608110	3	4	81	1	0	0	0	0	1	0	0	0	5397	1212	42	5	545	5	FADS2	11	61608110	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	101091	61608110	73398406	8675	12291											
FADS2	9415	broad.mit.edu	37	11	61608152	61608152	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:61608152C>A	ENST00000278840.4	+	4	1203	c.573C>A	c.(571-573)ccC>ccA	p.P191P	FADS2_ENST00000257261.6_Silent_p.P169P|FADS2_ENST00000522056.1_Silent_p.P160P|FADS2_ENST00000521849.1_Silent_p.P191P	NM_004265.2	NP_004256.1	O95864	FADS2_HUMAN	fatty acid desaturase 2	191					electron transport chain|transport|unsaturated fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction	heme binding			breast(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	20					Alpha-Linolenic Acid(DB00132)	ACAGAAAACCCAAGTGGAACC	0.532													5	105					0.217242	0.218703	1	1	0	A	61608152	C	A	61608152	2	1	81	1	0	0	0	0	0	0	0	1	5397	581	21	5		5	FADS2	11	61608152	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	42	61608152	73398364	8676	12292											
FADS3	3995	broad.mit.edu	37	11	61646218	61646218	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:61646218C>A	ENST00000540820.1	-	4	696	c.624G>T	c.(622-624)aaG>aaT	p.K208N	FADS3_ENST00000527697.1_Splice_Site_p.K84N|FADS3_ENST00000525588.1_Splice_Site_p.K180N|FADS3_ENST00000278829.2_Splice_Site_p.K208N			Q9Y5Q0	FADS3_HUMAN	fatty acid desaturase 3	208					electron transport chain|transport|unsaturated fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|membrane fraction	heme binding|oxidoreductase activity, acting on paired donors, with oxidation of a pair of donors resulting in the reduction of molecular oxygen to two molecules of water			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						CCACCCTCACCTTTAGCTGCC	0.642													12	15					3.27435e-08	3.88014e-08	1	1	0	A	61646218	C	A	61646218	5	1	81	1	0	0	0	0	0	0	1	0	5398	695	24	4	749	4	FADS3	11	61646218	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	38066	61646218	73360298	8677	12293											
FTH1	2495	broad.mit.edu	37	11	61732269	61732269	+	Missense_Mutation	SNP	G	G	A	rs11554842		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:61732269G>A	ENST00000273550.7	-	4	716	c.482C>T	c.(481-483)gCg>gTg	p.A161V	FTH1_ENST00000526640.1_Missense_Mutation_p.A131V|FTH1_ENST00000529631.1_Intron|FTH1_ENST00000529191.1_Intron|FTH1_ENST00000532601.1_Missense_Mutation_p.A91V|BEST1_ENST00000449131.2_3'UTR	NM_002032.2	NP_002023.2	P02794	FRIH_HUMAN	ferritin, heavy polypeptide 1	161					cell proliferation|cellular membrane organization|immune response|intracellular sequestering of iron ion|iron ion transport|negative regulation of cell proliferation|post-Golgi vesicle-mediated transport	cytosol|intracellular ferritin complex	ferric iron binding|ferroxidase activity|protein binding			NS(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8					Iron Dextran(DB00893)	AGATTCGGGCGCTCCCATCTT	0.502													7	47					0	0	1	0	0	A	61732269	G	A	61732269	3	1	81	1	0	0	0	0	1	0	0	0	6117	1087	38	1	73	1	FTH1	11	61732269	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	86051	61732269	73274247	8678	12294											
FTH1	2495	broad.mit.edu	37	11	61734852	61734852	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:61734852C>T	ENST00000273550.7	-	1	280	c.46G>A	c.(46-48)Gac>Aac	p.D16N	FTH1_ENST00000526640.1_Intron|FTH1_ENST00000529631.1_Missense_Mutation_p.D16N|FTH1_ENST00000529191.1_Missense_Mutation_p.D16N	NM_002032.2	NP_002023.2	P02794	FRIH_HUMAN	ferritin, heavy polypeptide 1	16	Ferritin-like diiron.				cell proliferation|cellular membrane organization|immune response|intracellular sequestering of iron ion|iron ion transport|negative regulation of cell proliferation|post-Golgi vesicle-mediated transport	cytosol|intracellular ferritin complex	ferric iron binding|ferroxidase activity|protein binding	p.D16Y(1)		NS(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8					Iron Dextran(DB00893)	GCCTCTGAGTCCTGGTGGTAG	0.697													8	5					0	0	1	0	0	T	61734852	C	T	61734852	3	4	81	1	0	0	0	0	1	0	0	0	6117	855	30	2	521	2	FTH1	11	61734852	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2583	61734852	73271664	8679	12295											
SCGB1A1	7356	broad.mit.edu	37	11	62189789	62189789	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:62189789C>A	ENST00000534397.1	+	3	238	c.47C>A	c.(46-48)cCt>cAt	p.P16H	SCGB1A1_ENST00000278282.2_Missense_Mutation_p.P51H|CTD-2531D15.4_ENST00000528983.1_RNA			P11684	UTER_HUMAN	secretoglobin, family 1A, member 1 (uteroglobin)	51					embryo implantation|signal transduction	extracellular region	binding|phospholipase A2 inhibitor activity			lung(1)	1						CTTTTCAGCCCTGATCAAGAC	0.547													11	66					2.80697e-09	3.37799e-09	1	1	0	A	62189789	C	A	62189789	3	1	81	1	0	0	0	0	1	0	0	0	13947	681	24	4	158	4	SCGB1A1	11	62189789	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	454937	62189789	72816727	8680	12296											
AHNAK	79026	broad.mit.edu	37	11	62284747	62284747	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:62284747C>T	ENST00000378024.4	-	5	17416	c.17142G>A	c.(17140-17142)atG>atA	p.M5714I	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000525875.1_5'UTR	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	5714					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TAAACTTGGGCATTTTGATCT	0.463													46	77					0	0	1	0	0	T	62284747	C	T	62284747	3	4	81	1	0	0	0	0	1	0	0	0	411	710	25	2	650	2	AHNAK	11	62284747	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	94958	62284747	72721769	8681	12297											
AHNAK	79026	broad.mit.edu	37	11	62285453	62285453	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:62285453C>T	ENST00000378024.4	-	5	16710	c.16436G>A	c.(16435-16437)gGt>gAt	p.G5479D	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	5479	Gly-rich.				nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				GCCTGGAAGACCTCCTCCGAC	0.517													32	61					0	0	1	0	0	T	62285453	C	T	62285453	3	4	81	1	0	0	0	0	1	0	0	0	411	507	18	2	1356	2	AHNAK	11	62285453	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	706	62285453	72721063	8682	12298											
AHNAK	79026	broad.mit.edu	37	11	62286711	62286711	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:62286711C>T	ENST00000378024.4	-	5	15452	c.15178G>A	c.(15178-15180)Gta>Ata	p.V5060I	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	5060					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TTGACATCTACATCCGGAGCC	0.453													11	235					0	0	1	0	0	T	62286711	C	T	62286711	3	4	81	1	0	0	0	0	1	0	0	0	411	478	17	2	2614	2	AHNAK	11	62286711	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1258	62286711	72719805	8683	12299											
AHNAK	79026	broad.mit.edu	37	11	62287036	62287036	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:62287036A>G	ENST00000378024.4	-	5	15127	c.14853T>C	c.(14851-14853)gcT>gcC	p.A4951A	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	4951					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CTAAGCTTGGAGCTTCAACTT	0.438													46	93					0	0	1	0	0	G	62287036	A	G	62287036	2	3	81	1	0	0	0	0	0	0	0	1	411	291	11	3		3	AHNAK	11	62287036	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	325	62287036	72719480	8684	12300											
AHNAK	79026	broad.mit.edu	37	11	62289319	62289319	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:62289319T>G	ENST00000378024.4	-	5	12844	c.12570A>C	c.(12568-12570)aaA>aaC	p.K4190N	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	4190					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				GCATTTTCACTTTGGGCATTT	0.537													122	155					0	0	1	0	0	G	62289319	T	G	62289319	3	3	81	1	0	0	0	0	1	0	0	0	411	1606	56	5	5222	5	AHNAK	11	62289319	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	2283	62289319	72717197	8685	12301											
AHNAK	79026	broad.mit.edu	37	11	62289689	62289689	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:62289689T>C	ENST00000378024.4	-	5	12474	c.12200A>G	c.(12199-12201)aAa>aGa	p.K4067R	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	4067					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CATGCTGAATTTGGGCATTTT	0.493													13	250					0	0	1	0	0	C	62289689	T	C	62289689	3	2	81	1	0	0	0	0	1	0	0	0	411	1841	64	3	5592	3	AHNAK	11	62289689	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	370	62289689	72716827	8686	12302											
AHNAK	79026	broad.mit.edu	37	11	62290342	62290342	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:62290342G>A	ENST00000378024.4	-	5	11821	c.11547C>T	c.(11545-11547)atC>atT	p.I3849I	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	3849					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CTGGGCCTTCGATATTCACAT	0.493													109	142					0	0	1	0	0	A	62290342	G	A	62290342	2	1	81	1	0	0	0	0	0	0	0	1	411	1048	37	1		1	AHNAK	11	62290342	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	653	62290342	72716174	8687	12303											
AHNAK	79026	broad.mit.edu	37	11	62292663	62292663	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:62292663C>A	ENST00000378024.4	-	5	9500	c.9226G>T	c.(9226-9228)Ggt>Tgt	p.G3076C	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	3076					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				AATTTGGGACCTTTCAACTTT	0.478													13	219					4.3838e-07	5.09097e-07	1	1	0	A	62292663	C	A	62292663	3	1	81	1	0	0	0	0	1	0	0	0	411	681	24	4	8566	4	AHNAK	11	62292663	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2321	62292663	72713853	8688	12304											
AHNAK	79026	broad.mit.edu	37	11	62292718	62292718	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:62292718C>A	ENST00000378024.4	-	5	9445	c.9171G>T	c.(9169-9171)aaG>aaT	p.K3057N	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	3057					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CAATGTCCACCTTGGGTCCTG	0.488													14	197					6.72482e-11	8.27642e-11	1	1	0	A	62292718	C	A	62292718	3	1	81	1	0	0	0	0	1	0	0	0	411	680	24	4	8621	4	AHNAK	11	62292718	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	55	62292718	72713798	8689	12305											
AHNAK	79026	broad.mit.edu	37	11	62294946	62294946	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:62294946G>A	ENST00000378024.4	-	5	7217	c.6943C>T	c.(6943-6945)Cct>Tct	p.P2315S	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	2315					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TCAACATCAGGCATGGAGATC	0.468													46	108					0	0	1	0	0	A	62294946	G	A	62294946	3	1	81	1	0	0	0	0	1	0	0	0	411	1203	42	2	10849	2	AHNAK	11	62294946	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2228	62294946	72711570	8690	12306											
AHNAK	79026	broad.mit.edu	37	11	62295065	62295065	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:62295065G>A	ENST00000378024.4	-	5	7098	c.6824C>T	c.(6823-6825)tCa>tTa	p.S2275L	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	2275					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CTTGGGTCCTGAGACATCAAC	0.512													89	188					0	0	1	0	0	A	62295065	G	A	62295065	3	1	81	1	0	0	0	0	1	0	0	0	411	1294	45	2	10968	2	AHNAK	11	62295065	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	119	62295065	72711451	8691	12307											
AHNAK	79026	broad.mit.edu	37	11	62297964	62297964	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:62297964G>A	ENST00000378024.4	-	5	4199	c.3925C>T	c.(3925-3927)Ccc>Tcc	p.P1309S	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	1309					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TTAAACTTGGGGCCCTTCAGC	0.527													78	95					0	0	1	0	0	A	62297964	G	A	62297964	3	1	81	1	0	0	0	0	1	0	0	0	411	1232	43	2	13867	2	AHNAK	11	62297964	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2899	62297964	72708552	8692	12308											
AHNAK	79026	broad.mit.edu	37	11	62299568	62299568	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:62299568G>A	ENST00000378024.4	-	5	2595	c.2321C>T	c.(2320-2322)cCc>cTc	p.P774L	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	774					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				ATCAGCCTTGGGCAGGTTCAC	0.507													59	128					0	0	1	0	0	A	62299568	G	A	62299568	3	1	81	1	0	0	0	0	1	0	0	0	411	1232	43	2	15471	2	AHNAK	11	62299568	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1604	62299568	72706948	8693	12309											
AHNAK	79026	broad.mit.edu	37	11	62300220	62300220	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:62300220G>T	ENST00000378024.4	-	5	1943	c.1669C>A	c.(1669-1671)Ctt>Att	p.L557I	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	557					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				GGACTGCCAAGCCTAGGGCCT	0.512													56	93					1.0442e-30	1.39308e-30	1	1	0	T	62300220	G	T	62300220	3	4	81	1	0	0	0	0	1	0	0	0	411	971	34	4	16123	4	AHNAK	11	62300220	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	652	62300220	72706296	8694	12310											
AHNAK	79026	broad.mit.edu	37	11	62302477	62302477	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:62302477G>T	ENST00000378024.4	-	4	614	c.340C>A	c.(340-342)Ctg>Atg	p.L114M	AHNAK_ENST00000257247.7_Missense_Mutation_p.L114M|AHNAK_ENST00000530124.1_Missense_Mutation_p.L114M	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	114					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				GTACTCACCAGAACCACTTCA	0.672													14	26					4.3838e-07	5.09097e-07	1	1	0	T	62302477	G	T	62302477	3	4	81	1	0	0	0	0	1	0	0	0	411	933	33	4	17456	4	AHNAK	11	62302477	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2257	62302477	72704039	8695	12311											
MTA2	9219	broad.mit.edu	37	11	62361761	62361761	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:62361761G>T	ENST00000278823.2	-	17	2200	c.1811C>A	c.(1810-1812)cCt>cAt	p.P604H	MTA2_ENST00000524902.1_Missense_Mutation_p.P431H|MTA2_ENST00000527204.1_Missense_Mutation_p.P431H	NM_004739.3	NP_004730.2	O94776	MTA2_HUMAN	metastasis associated 1 family, member 2	604					chromatin assembly or disassembly	NuRD complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	26						AAACACCACAGGATTGGGGGC	0.562													12	31					9.31168e-06	1.05369e-05	1	1	0	T	62361761	G	T	62361761	3	4	81	1	0	0	0	0	1	0	0	0	9957	1000	35	4	203	4	MTA2	11	62361761	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	59284	62361761	72644755	8696	12312											
MTA2	9219	broad.mit.edu	37	11	62365511	62365511	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:62365511C>A	ENST00000278823.2	-	6	864	c.475G>T	c.(475-477)Gat>Tat	p.D159Y	MTA2_ENST00000524902.1_5'UTR|MTA2_ENST00000527204.1_5'UTR	NM_004739.3	NP_004730.2	O94776	MTA2_HUMAN	metastasis associated 1 family, member 2	159	ELM2.				chromatin assembly or disassembly	NuRD complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	26						ACTAGGCGATCTGGGATCTCA	0.478													9	212					0.000673444	0.000721718	1	1	0	A	62365511	C	A	62365511	3	1	81	1	0	0	0	0	1	0	0	0	9957	913	32	4	1583	4	MTA2	11	62365511	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3750	62365511	72641005	8697	12313											
EML3	256364	broad.mit.edu	37	11	62374475	62374475	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:62374475G>A	ENST00000394773.2	-	12	1766	c.1459C>T	c.(1459-1461)Cgg>Tgg	p.R487W	EML3_ENST00000531557.1_Missense_Mutation_p.R270W|EML3_ENST00000438258.1_5'UTR|EML3_ENST00000529309.1_Missense_Mutation_p.R487W|EML3_ENST00000494176.2_Missense_Mutation_p.R459W|EML3_ENST00000278845.4_Missense_Mutation_p.R488W	NM_153265.2	NP_694997.2	Q32P44	EMAL3_HUMAN	echinoderm microtubule associated protein like 3	487						cytoplasm|microtubule	protein binding			biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						GAAGGGCTCCGCCCCCAGGTG	0.542													22	34					0	0	1	0	0	A	62374475	G	A	62374475	3	1	81	1	0	0	0	0	1	0	0	0	5126	1086	38	1	1275	1	EML3	11	62374475	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	8964	62374475	72632041	8698	12314											
UBXN1	51035	broad.mit.edu	37	11	62445254	62445254	+	Splice_Site	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:62445254T>A	ENST00000294119.2	-	6	664	c.533A>T	c.(532-534)aAg>aTg	p.K178M	UBXN1_ENST00000301935.5_Splice_Site_p.K178M|UBXN1_ENST00000533000.1_Splice_Site_p.K36M|UBXN1_ENST00000529640.1_Splice_Site_p.K174M|UBXN1_ENST00000524762.1_5'UTR	NM_015853.3	NP_056937.2	Q04323	UBXN1_HUMAN	UBX domain protein 1	178	Interaction with BRCA1.				negative regulation of proteasomal ubiquitin-dependent protein catabolic process|negative regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process	cytoplasm	ATPase binding|K6-linked polyubiquitin binding			endometrium(5)|lung(12)	17						GTCACCTACCTTCTTGGCTCT	0.433													46	75					0	0	1	0	0	A	62445254	T	A	62445254	5	1	81	1	0	0	0	0	0	0	1	0	16971	1623	56	5	417	5	UBXN1	11	62445254	Splice_Site	SNP	T	TCGA-DU-6392-01A-11D-1705-08	70779	62445254	72561262	8699	12315											
BSCL2	26580	broad.mit.edu	37	11	62472962	62472962	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:62472962G>T	ENST00000433053.1	-	3	771	c.215C>A	c.(214-216)cCt>cAt	p.P72H	BSCL2_ENST00000403550.1_Missense_Mutation_p.P8H|BSCL2_ENST00000405837.1_Missense_Mutation_p.P72H|BSCL2_ENST00000421906.1_Missense_Mutation_p.P8H|BSCL2_ENST00000278893.7_Missense_Mutation_p.P8H|BSCL2_ENST00000537604.1_5'UTR|HNRNPUL2-BSCL2_ENST00000403734.2_3'UTR|BSCL2_ENST00000360796.5_Missense_Mutation_p.P72H|BSCL2_ENST00000407022.3_Missense_Mutation_p.P8H			Q96G97	BSCL2_HUMAN	Berardinelli-Seip congenital lipodystrophy 2 (seipin)	8					cell death	integral to endoplasmic reticulum membrane				endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	12						CAGTAAGGCAGGTACTGGAGG	0.647													14	17					1.05317e-09	1.27674e-09	1	1	0	T	62472962	G	T	62472962	3	4	81	1	0	0	0	0	1	0	0	0	1529	1000	35	4	1213	4	BSCL2	11	62472962	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	27708	62472962	72533554	8700	12316											
HNRNPUL2	221092	broad.mit.edu	37	11	62491095	62491095	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:62491095G>A	ENST00000301785.5	-	4	1047	c.855C>T	c.(853-855)taC>taT	p.Y285Y	HNRNPUL2-BSCL2_ENST00000403734.2_Silent_p.Y285Y	NM_001079559.2	NP_001073027.1	Q1KMD3	HNRL2_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 2	285	B30.2/SPRY.				cell killing	nucleus	ATP binding|nucleic acid binding			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						TTGTCACTCCGTAAGTACTCC	0.463													17	19					0	0	1	0	0	A	62491095	G	A	62491095	2	1	81	1	0	0	0	0	0	0	0	1	7316	1140	40	1		1	HNRNPUL2	11	62491095	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	18133	62491095	72515421	8701	12317											
ZBTB3	79842	broad.mit.edu	37	11	62519916	62519916	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:62519916G>A	ENST00000394807.3	-	2	1496	c.1371C>T	c.(1369-1371)taC>taT	p.Y457Y		NM_024784.3	NP_079060.1	Q9H5J0	ZBTB3_HUMAN	zinc finger and BTB domain containing 3	457					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(9)|ovary(2)|prostate(2)	24						GAGCTGCTTCGTACTCAGAAG	0.542													18	42					0	0	1	0	0	A	62519916	G	A	62519916	2	1	81	1	0	0	0	0	0	0	0	1	17593	1140	40	1		1	ZBTB3	11	62519916	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	28821	62519916	72486600	8702	12318											
ZBTB3	79842	broad.mit.edu	37	11	62520277	62520277	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:62520277G>A	ENST00000394807.3	-	2	1135	c.1010C>T	c.(1009-1011)gCt>gTt	p.A337V		NM_024784.3	NP_079060.1	Q9H5J0	ZBTB3_HUMAN	zinc finger and BTB domain containing 3	337	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(9)|ovary(2)|prostate(2)	24						tggaactggagctgagacagg	0.567													27	26					0	0	1	0	0	A	62520277	G	A	62520277	3	1	81	1	0	0	0	0	1	0	0	0	17593	971	34	2	718	2	ZBTB3	11	62520277	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	361	62520277	72486239	8703	12319											
TAF6L	10629	broad.mit.edu	37	11	62549438	62549438	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:62549438G>T	ENST00000294168.3	+	7	805	c.604G>T	c.(604-606)Ggg>Tgg	p.G202W	TMEM223_ENST00000527073.1_Intron	NM_006473.3	NP_006464.1	Q9Y6J9	TAF6L_HUMAN	TAF6-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa	202					chromatin remodeling|histone H3 acetylation|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	histone deacetylase complex|STAGA complex	DNA binding|protein binding|transcription coactivator activity			endometrium(2)|large_intestine(5)|lung(4)|ovary(3)|prostate(1)|skin(1)	16						TGTGGTCAGTGGGGTAAGTGA	0.527													5	37					0.000602214	0.000646338	1	1	0	T	62549438	G	T	62549438	3	4	81	1	0	0	0	0	1	0	0	0	15588	1348	47	5	626	5	TAF6L	11	62549438	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	29161	62549438	72457078	8704	12320											
TMEM179B	374395	broad.mit.edu	37	11	62556618	62556618	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:62556618G>A	ENST00000333449.4	+	2	225	c.220G>A	c.(220-222)Gcc>Acc	p.A74T	TMEM179B_ENST00000533861.1_Missense_Mutation_p.A74T|TMEM223_ENST00000525631.1_Intron|TMEM223_ENST00000527073.1_Intron	NM_199337.2	NP_955369.1	Q7Z7N9	T179B_HUMAN	transmembrane protein 179B	74						integral to membrane				kidney(1)|large_intestine(1)|liver(1)|lung(1)	4						TGGCCTCTTGGCCCTCTACTG	0.602													38	39					0	0	1	0	0	A	62556618	G	A	62556618	3	1	81	1	0	0	0	0	1	0	0	0	16157	1203	42	2	226	2	TMEM179B	11	62556618	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	7180	62556618	72449898	8705	12321											
TMEM179B	374395	broad.mit.edu	37	11	62557503	62557503	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:62557503G>A	ENST00000333449.4	+	5	649	c.644G>A	c.(643-645)cGc>cAc	p.R215H	TMEM223_ENST00000307366.7_3'UTR|TMEM179B_ENST00000533861.1_3'UTR|TMEM223_ENST00000525631.1_Intron|TMEM223_ENST00000527073.1_Intron	NM_199337.2	NP_955369.1	Q7Z7N9	T179B_HUMAN	transmembrane protein 179B	215						integral to membrane				kidney(1)|large_intestine(1)|liver(1)|lung(1)	4						GTTGGGTCACGCCTTTCCCAT	0.582													27	21					0	0	1	0	0	A	62557503	G	A	62557503	3	1	81	1	0	0	0	0	1	0	0	0	16157	1087	38	1	662	1	TMEM179B	11	62557503	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	885	62557503	72449013	8706	12322											
SLC3A2	6520	broad.mit.edu	37	11	62655861	62655861	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:62655861G>A	ENST00000377892.1	+	13	1906	c.1682G>A	c.(1681-1683)cGg>cAg	p.R561Q	SLC3A2_ENST00000535296.1_Missense_Mutation_p.R499Q|SLC3A2_ENST00000536981.1_Missense_Mutation_p.R75Q|SLC3A2_ENST00000338663.7_Missense_Mutation_p.R429Q|SLC3A2_ENST00000538682.1_3'UTR|SLC3A2_ENST00000377891.2_Missense_Mutation_p.R531Q|SLC3A2_ENST00000377889.2_Missense_Mutation_p.R468Q|SLC3A2_ENST00000377890.2_Missense_Mutation_p.R530Q			P08195	4F2_HUMAN	solute carrier family 3 (amino acid transporter heavy chain), member 2	530					blood coagulation|carbohydrate metabolic process|cell growth|cellular nitrogen compound metabolic process|leucine import|leukocyte migration|tryptophan transport	apical plasma membrane|cell surface|integral to membrane|melanosome	calcium:sodium antiporter activity|catalytic activity|cation binding|neutral amino acid transmembrane transporter activity|protein binding			endometrium(1)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)	22						AGTGACCAGCGGAGTAAGGAG	0.572													8	74					0	0	1	0	0	A	62655861	G	A	62655861	3	1	81	1	0	0	0	0	1	0	0	0	14682	1116	39	1	1735	1	SLC3A2	11	62655861	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	98358	62655861	72350655	8707	12323											
SLC3A2	6520	broad.mit.edu	37	11	62655901	62655901	+	Silent	SNP	G	G	A	rs138892942		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:62655901G>A	ENST00000377892.1	+	13	1946	c.1722G>A	c.(1720-1722)gcG>gcA	p.A574A	SLC3A2_ENST00000535296.1_Silent_p.A512A|SLC3A2_ENST00000536981.1_Silent_p.A88A|SLC3A2_ENST00000338663.7_Silent_p.A442A|SLC3A2_ENST00000538682.1_3'UTR|SLC3A2_ENST00000377891.2_Silent_p.A544A|SLC3A2_ENST00000377889.2_Silent_p.A481A|SLC3A2_ENST00000377890.2_Silent_p.A543A			P08195	4F2_HUMAN	solute carrier family 3 (amino acid transporter heavy chain), member 2	543					blood coagulation|carbohydrate metabolic process|cell growth|cellular nitrogen compound metabolic process|leucine import|leukocyte migration|tryptophan transport	apical plasma membrane|cell surface|integral to membrane|melanosome	calcium:sodium antiporter activity|catalytic activity|cation binding|neutral amino acid transmembrane transporter activity|protein binding			endometrium(1)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)	22						ACTTCCACGCGTTCTCCGCTG	0.597													14	109					0	0	1	0	0	A	62655901	G	A	62655901	2	1	81	1	0	0	0	0	0	0	0	1	14682	1132	40	1		1	SLC3A2	11	62655901	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	40	62655901	72350615	8708	12324											
SLC22A8	9376	broad.mit.edu	37	11	62768254	62768254	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:62768254G>A	ENST00000336232.2	-	3	510	c.375C>T	c.(373-375)gcC>gcT	p.A125A	SLC22A8_ENST00000542795.1_5'UTR|SLC22A8_ENST00000535878.1_Silent_p.A2A|SLC22A8_ENST00000311438.8_Silent_p.A125A|SLC22A8_ENST00000430500.2_Silent_p.A125A|SLC22A8_ENST00000545207.1_Silent_p.A34A	NM_001184732.1|NM_001184736.1|NM_004254.3	NP_001171661.1|NP_001171665.1|NP_004245.2	Q8TCC7	S22A8_HUMAN	solute carrier family 22 (organic anion transporter), member 8	125					response to toxin	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|organic anion transmembrane transporter activity			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28						AGATAGACTGGGCCATCTCCT	0.542													13	26					0	0	1	0	0	A	62768254	G	A	62768254	2	1	81	1	0	0	0	0	0	0	0	1	14515	1219	43	2		2	SLC22A8	11	62768254	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	112353	62768254	72238262	8709	12325											
SLC22A8	9376	broad.mit.edu	37	11	62782137	62782137	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:62782137G>T	ENST00000336232.2	-	2	429	c.294C>A	c.(292-294)ggC>ggA	p.G98G	SLC22A8_ENST00000535878.1_Intron|SLC22A8_ENST00000311438.8_Silent_p.G98G|SLC22A8_ENST00000430500.2_Silent_p.G98G|SLC22A8_ENST00000545207.1_Silent_p.G7G	NM_001184732.1|NM_001184736.1|NM_004254.3	NP_001171661.1|NP_001171665.1|NP_004245.2	Q8TCC7	S22A8_HUMAN	solute carrier family 22 (organic anion transporter), member 8	98					response to toxin	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|organic anion transmembrane transporter activity			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28						TGTAGACCCAGCCATCCAGGC	0.597													6	136					0.0293803	0.0300537	1	1	0	T	62782137	G	T	62782137	2	4	81	1	0	0	0	0	0	0	0	1	14515	958	34	4		4	SLC22A8	11	62782137	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	13883	62782137	72224379	8710	12326											
SLC22A25	387601	broad.mit.edu	37	11	62933548	62933548	+	Missense_Mutation	SNP	G	G	A	rs151029409		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:62933548G>A	ENST00000306494.6	-	7	1252	c.1253C>T	c.(1252-1254)aCc>aTc	p.T418I	SLC22A10_ENST00000525620.1_Intron|SLC22A10_ENST00000535888.1_Intron	NM_199352.3	NP_955384.3	Q6T423	S22AP_HUMAN	solute carrier family 22, member 25	418					transmembrane transport	integral to membrane				NS(2)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|skin(7)	34						CAGAAGGCAGGTTGCCAGTAG	0.493													11	33					0	0	1	0	0	A	62933548	G	A	62933548	3	1	81	1	0	0	0	0	1	0	0	0	14509	1261	44	2	402	2	SLC22A25	11	62933548	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	151411	62933548	72072968	8711	12327											
SLC22A10	387775	broad.mit.edu	37	11	63064818	63064818	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:63064818G>A	ENST00000544661.1	+	4	513	c.85G>A	c.(85-87)Gcc>Acc	p.A29T	SLC22A10_ENST00000525620.1_3'UTR|SLC22A10_ENST00000332793.6_Missense_Mutation_p.A184T|SLC22A10_ENST00000535888.1_5'UTR|SLC22A10_ENST00000526800.1_Intron			Q63ZE4	S22AA_HUMAN	solute carrier family 22, member 10	184						integral to membrane	transmembrane transporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						GCTCCAGCTTGCCATTACTGA	0.413													39	63					0	0	1	0	0	A	63064818	G	A	63064818	3	1	81	1	0	0	0	0	1	0	0	0	14496	1319	46	2	560	2	SLC22A10	11	63064818	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	131270	63064818	71941698	8712	12328											
SLC22A9	114571	broad.mit.edu	37	11	63141203	63141203	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:63141203T>C	ENST00000279178.3	+	3	843	c.594T>C	c.(592-594)atT>atC	p.I198I	SLC22A9_ENST00000310969.4_Intron	NM_080866.2	NP_543142.2	Q8IVM8	S22A9_HUMAN	solute carrier family 22 (organic anion transporter), member 9	198					transmembrane transport	integral to membrane				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	18						CCTTCCTCATTTACTGCTCAC	0.458													7	135					0	0	1	0	0	C	63141203	T	C	63141203	2	2	81	1	0	0	0	0	0	0	0	1	14516	1829	64	3		3	SLC22A9	11	63141203	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	76385	63141203	71865313	8713	12329											
SLC22A9	114571	broad.mit.edu	37	11	63176244	63176244	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:63176244C>A	ENST00000279178.3	+	9	1743	c.1494C>A	c.(1492-1494)ccC>ccA	p.P498P	SLC22A9_ENST00000310969.4_3'UTR	NM_080866.2	NP_543142.2	Q8IVM8	S22A9_HUMAN	solute carrier family 22 (organic anion transporter), member 9	498					transmembrane transport	integral to membrane				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	18						CACCCCTGCCCTGGATCATCT	0.502													4	50					0.150653	0.152522	1	1	0	A	63176244	C	A	63176244	2	1	81	1	0	0	0	0	0	0	0	1	14516	668	24	4		4	SLC22A9	11	63176244	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	35041	63176244	71830272	8714	12330											
SLC22A9	114571	broad.mit.edu	37	11	63177288	63177288	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:63177288G>A	ENST00000279178.3	+	10	1865	c.1616G>A	c.(1615-1617)aGa>aAa	p.R539K	SLC22A9_ENST00000310969.4_3'UTR	NM_080866.2	NP_543142.2	Q8IVM8	S22A9_HUMAN	solute carrier family 22 (organic anion transporter), member 9	539					transmembrane transport	integral to membrane				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	18						AAAGACCCCAGAGAACCAAAG	0.418													11	18					0	0	1	0	0	A	63177288	G	A	63177288	3	1	81	1	0	0	0	0	1	0	0	0	14516	942	33	2	1654	2	SLC22A9	11	63177288	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1044	63177288	71829228	8715	12331											
PLA2G16	11145	broad.mit.edu	37	11	63357748	63357748	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:63357748T>C	ENST00000323646.5	-	3	565	c.211A>G	c.(211-213)Agt>Ggt	p.S71G	PLA2G16_ENST00000394613.3_5'UTR|PLA2G16_ENST00000415826.1_Missense_Mutation_p.S71G	NM_007069.3	NP_009000.2	P53816	PAG16_HUMAN	phospholipase A2, group XVI	71					lipid catabolic process	integral to membrane|perinuclear region of cytoplasm	hydrolase activity|protein binding			kidney(2)|lung(1)|ovary(1)|skin(1)	5						TACTTGTCACTCCCGGCCACA	0.572													3	60					0	0	1	0	0	C	63357748	T	C	63357748	3	2	81	1	0	0	0	0	1	0	0	0	12041	1551	54	3	285	3	PLA2G16	11	63357748	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	180460	63357748	71648768	8716	12332											
ATL3	25923	broad.mit.edu	37	11	63398565	63398565	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:63398565A>G	ENST00000398868.3	-	12	1762	c.1486T>C	c.(1486-1488)Tat>Cat	p.Y496H	ATL3_ENST00000538786.1_Missense_Mutation_p.Y478H|ATL3_ENST00000332645.4_Missense_Mutation_p.Y523H	NM_015459.3	NP_056274.3	Q6DD88	ATLA3_HUMAN	atlastin GTPase 3	496					endoplasmic reticulum organization|Golgi organization|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	GTP binding|GTPase activity|identical protein binding			endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	11						AGCTCACGATATTGACCAGAA	0.483													4	38					0	0	1	0	0	G	63398565	A	G	63398565	3	3	81	1	0	0	0	0	1	0	0	0	1107	449	16	3	147	3	ATL3	11	63398565	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	40817	63398565	71607951	8717	12333											
RTN3	10313	broad.mit.edu	37	11	63487004	63487004	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:63487004C>T	ENST00000377819.5	+	3	1184	c.1030C>T	c.(1030-1032)Ctg>Ttg	p.L344L	RTN3_ENST00000339997.4_Silent_p.L325L|RTN3_ENST00000356000.3_Intron|RTN3_ENST00000540798.1_Silent_p.L232L|RTN3_ENST00000537981.1_Intron|RTN3_ENST00000341307.2_Intron|RTN3_ENST00000354497.4_Intron	NM_001265589.1	NP_001252518.1	O95197	RTN3_HUMAN	reticulon 3	344					apoptosis|endoplasmic reticulum tubular network organization|interspecies interaction between organisms|response to stress|vesicle-mediated transport	endoplasmic reticulum membrane|extracellular space|Golgi membrane|integral to membrane				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	20						GACTTGGGATCTGGTTCCCCA	0.408													27	33					0	0	1	0	0	T	63487004	C	T	63487004	2	4	81	1	0	0	0	0	0	0	0	1	13779	912	32	2		2	RTN3	11	63487004	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	88439	63487004	71519512	8718	12334											
RTN3	10313	broad.mit.edu	37	11	63488068	63488068	+	Silent	SNP	C	C	A	rs143833769	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:63488068C>A	ENST00000377819.5	+	3	2248	c.2094C>A	c.(2092-2094)tcC>tcA	p.S698S	RTN3_ENST00000339997.4_Silent_p.S679S|RTN3_ENST00000356000.3_Intron|RTN3_ENST00000540798.1_Silent_p.S586S|RTN3_ENST00000537981.1_Intron|RTN3_ENST00000341307.2_Intron|RTN3_ENST00000354497.4_Intron	NM_001265589.1	NP_001252518.1	O95197	RTN3_HUMAN	reticulon 3	698					apoptosis|endoplasmic reticulum tubular network organization|interspecies interaction between organisms|response to stress|vesicle-mediated transport	endoplasmic reticulum membrane|extracellular space|Golgi membrane|integral to membrane				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	20						AAAATGAGTCCGGTGGTTCTG	0.373													35	45					1.22384e-17	1.58083e-17	1	1	0	A	63488068	C	A	63488068	2	1	81	1	0	0	0	0	0	0	0	1	13779	639	23	5		5	RTN3	11	63488068	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1064	63488068	71518448	8719	12335											
MARK2	2011	broad.mit.edu	37	11	63667395	63667395	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:63667395T>G	ENST00000402010.2	+	8	1160	c.581T>G	c.(580-582)tTt>tGt	p.F194C	MARK2_ENST00000513765.2_Missense_Mutation_p.F161C|MARK2_ENST00000413835.2_Missense_Mutation_p.F194C|MARK2_ENST00000377809.4_Missense_Mutation_p.F194C|MARK2_ENST00000502399.3_Missense_Mutation_p.F194C|MARK2_ENST00000315032.8_Missense_Mutation_p.F194C|MARK2_ENST00000408948.3_Missense_Mutation_p.F161C|MARK2_ENST00000508192.1_Missense_Mutation_p.F194C|MARK2_ENST00000377810.3_Missense_Mutation_p.F161C|MARK2_ENST00000350490.7_Missense_Mutation_p.F194C|MARK2_ENST00000509502.2_Missense_Mutation_p.F161C|MARK2_ENST00000361128.5_Missense_Mutation_p.F194C|MARK2_ENST00000425897.2_Missense_Mutation_p.F161C	NM_001039469.2	NP_001034558.2	Q7KZI7	MARK2_HUMAN	MAP/microtubule affinity-regulating kinase 2	194	Protein kinase.				cell differentiation|establishment or maintenance of epithelial cell apical/basal polarity|intracellular protein kinase cascade|multicellular organismal development|response to oxidative stress	plasma membrane	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						ATTGCAGACTTTGGCTTCAGC	0.478													19	166					0	0	1	0	0	G	63667395	T	G	63667395	3	3	81	1	0	0	0	0	1	0	0	0	9363	1841	64	5	611	5	MARK2	11	63667395	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	179327	63667395	71339121	8720	12336											
MARK2	2011	broad.mit.edu	37	11	63676648	63676648	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:63676648C>T	ENST00000402010.2	+	19	2885	c.2306C>T	c.(2305-2307)tCg>tTg	p.S769L	MARK2_ENST00000513765.2_Missense_Mutation_p.S736L|MARK2_ENST00000413835.2_Missense_Mutation_p.S715L|MARK2_ENST00000377809.4_Missense_Mutation_p.S754L|MARK2_ENST00000502399.3_Missense_Mutation_p.S759L|MARK2_ENST00000315032.8_Missense_Mutation_p.S760L|MARK2_ENST00000408948.3_Missense_Mutation_p.S672L|MARK2_ENST00000508192.1_Missense_Mutation_p.S705L|MARK2_ENST00000377810.3_Missense_Mutation_p.S672L|MARK2_ENST00000350490.7_Missense_Mutation_p.S690L|MARK2_ENST00000509502.2_Missense_Mutation_p.S726L|MARK2_ENST00000361128.5_Missense_Mutation_p.S700L|MARK2_ENST00000425897.2_Missense_Mutation_p.S680L	NM_001039469.2	NP_001034558.2	Q7KZI7	MARK2_HUMAN	MAP/microtubule affinity-regulating kinase 2	769	KA1.				cell differentiation|establishment or maintenance of epithelial cell apical/basal polarity|intracellular protein kinase cascade|multicellular organismal development|response to oxidative stress	plasma membrane	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	p.S726L(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						AAGCGGATATCGGGCACCTCC	0.612													6	74					0	0	1	0	0	T	63676648	C	T	63676648	3	4	81	1	0	0	0	0	1	0	0	0	9363	893	31	1	2380	1	MARK2	11	63676648	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	9253	63676648	71329868	8721	12337											
FLRT1	23769	broad.mit.edu	37	11	63884068	63884068	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:63884068T>C	ENST00000246841.3	+	2	1372	c.329T>C	c.(328-330)gTc>gCc	p.V110A	MACROD1_ENST00000255681.6_Intron	NM_013280.4	NP_037412.2	Q9NZU1	FLRT1_HUMAN	fibronectin leucine rich transmembrane protein 1	82					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			breast(1)|endometrium(3)|large_intestine(6)|lung(2)|prostate(1)|urinary_tract(1)	14						AACGTGCAGGTCATCTACCTA	0.572													14	20					0	0	1	0	0	C	63884068	T	C	63884068	3	2	81	1	0	0	0	0	1	0	0	0	5971	1667	58	3	331	3	FLRT1	11	63884068	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	207420	63884068	71122448	8722	12338											
FLRT1	23769	broad.mit.edu	37	11	63884783	63884783	+	Silent	SNP	C	C	T	rs140908634		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:63884783C>T	ENST00000246841.3	+	2	2087	c.1044C>T	c.(1042-1044)gcC>gcT	p.A348A	MACROD1_ENST00000255681.6_Intron	NM_013280.4	NP_037412.2	Q9NZU1	FLRT1_HUMAN	fibronectin leucine rich transmembrane protein 1	320	LRRCT.				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			breast(1)|endometrium(3)|large_intestine(6)|lung(2)|prostate(1)|urinary_tract(1)	14						CACGGGCGGCCGTGGTCAACG	0.627													16	26					0	0	1	0	0	T	63884783	C	T	63884783	2	4	81	1	0	0	0	0	0	0	0	1	5971	639	23	1		1	FLRT1	11	63884783	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	715	63884783	71121733	8723	12339											
STIP1	10963	broad.mit.edu	37	11	63960582	63960582	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:63960582C>T	ENST00000358794.5	+	2	736	c.183C>T	c.(181-183)gcC>gcT	p.A61A	STIP1_ENST00000540501.1_3'UTR|STIP1_ENST00000305218.4_Silent_p.A14A|STIP1_ENST00000543847.1_Silent_p.A14A|STIP1_ENST00000538945.1_Silent_p.A14A	NM_001282652.1	NP_001269581.1	P31948	STIP1_HUMAN	stress-induced-phosphoprotein 1	14					axon guidance|response to stress	Golgi apparatus|nucleus				endometrium(4)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(1)|skin(1)	27						GCAACAAGGCCCTGAGCGTGG	0.498													17	29					0	0	1	0	0	T	63960582	C	T	63960582	2	4	81	1	0	0	0	0	0	0	0	1	15341	610	22	2		2	STIP1	11	63960582	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	75799	63960582	71045934	8724	12340											
FERMT3	83706	broad.mit.edu	37	11	63978187	63978187	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:63978187G>A	ENST00000279227.5	+	3	360	c.265G>A	c.(265-267)Gca>Aca	p.A89T	FERMT3_ENST00000345728.5_Missense_Mutation_p.A89T	NM_178443.2	NP_848537.1	Q86UX7	URP2_HUMAN	fermitin family member 3	89					integrin activation|leukocyte cell-cell adhesion|platelet aggregation|regulation of cell-cell adhesion mediated by integrin	cell junction|cell projection|podosome	integrin binding			breast(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	18						CCTGGCCGACGCACGCCTCTT	0.637													56	106					0	0	1	0	0	A	63978187	G	A	63978187	3	1	81	1	0	0	0	0	1	0	0	0	5852	1087	38	1	271	1	FERMT3	11	63978187	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	17605	63978187	71028329	8725	12341											
FERMT3	83706	broad.mit.edu	37	11	63988555	63988555	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:63988555G>A	ENST00000279227.5	+	13	1720	c.1625G>A	c.(1624-1626)cGc>cAc	p.R542H	FERMT3_ENST00000345728.5_Missense_Mutation_p.R538H	NM_178443.2	NP_848537.1	Q86UX7	URP2_HUMAN	fermitin family member 3	542	FERM.				integrin activation|leukocyte cell-cell adhesion|platelet aggregation|regulation of cell-cell adhesion mediated by integrin	cell junction|cell projection|podosome	integrin binding			breast(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	18						GCCCAGCTGCGCTTCATCCAG	0.667													20	51					0	0	1	0	0	A	63988555	G	A	63988555	3	1	81	1	0	0	0	0	1	0	0	0	5852	1087	38	1	1671	1	FERMT3	11	63988555	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	10368	63988555	71017961	8726	12342											
FERMT3	83706	broad.mit.edu	37	11	63990590	63990590	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:63990590G>A	ENST00000279227.5	+	14	1848	c.1753G>A	c.(1753-1755)Gtg>Atg	p.V585M	FERMT3_ENST00000345728.5_Missense_Mutation_p.V581M	NM_178443.2	NP_848537.1	Q86UX7	URP2_HUMAN	fermitin family member 3	585					integrin activation|leukocyte cell-cell adhesion|platelet aggregation|regulation of cell-cell adhesion mediated by integrin	cell junction|cell projection|podosome	integrin binding			breast(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	18						CGACTTGGCCGTGGGCGACGT	0.612													34	48					0	0	1	0	0	A	63990590	G	A	63990590	3	1	81	1	0	0	0	0	1	0	0	0	5852	1145	40	1	1803	1	FERMT3	11	63990590	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2035	63990590	71015926	8727	12343											
FERMT3	83706	broad.mit.edu	37	11	63990794	63990794	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:63990794G>A	ENST00000279227.5	+	15	1929	c.1834G>A	c.(1834-1836)Gag>Aag	p.E612K	FERMT3_ENST00000345728.5_Missense_Mutation_p.E608K	NM_178443.2	NP_848537.1	Q86UX7	URP2_HUMAN	fermitin family member 3	612					integrin activation|leukocyte cell-cell adhesion|platelet aggregation|regulation of cell-cell adhesion mediated by integrin	cell junction|cell projection|podosome	integrin binding			breast(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	18						GGTGGCCATCGAGTTTGATGA	0.592													51	116					0	0	1	0	0	A	63990794	G	A	63990794	3	1	81	1	0	0	0	0	1	0	0	0	5852	1059	37	1	1888	1	FERMT3	11	63990794	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	204	63990794	71015722	8728	12344											
NUDT22	84304	broad.mit.edu	37	11	63994254	63994254	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:63994254A>G	ENST00000279206.3	+	2	286	c.130A>G	c.(130-132)Atc>Gtc	p.I44V	NUDT22_ENST00000441250.2_Missense_Mutation_p.I44V	NM_001128612.2|NM_032344.2	NP_001122084.1|NP_115720	Q9BRQ3	NUD22_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 22	44							hydrolase activity			breast(1)|endometrium(1)|large_intestine(2)|lung(4)	8						CATCACTGCCATCTGGGAGAC	0.697													14	53					0	0	1	0	0	G	63994254	A	G	63994254	3	3	81	1	0	0	0	0	1	0	0	0	10787	217	8	3	132	3	NUDT22	11	63994254	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	3460	63994254	71012262	8729	12345											
VEGFB	7423	broad.mit.edu	37	11	64003358	64003358	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:64003358G>A	ENST00000309422.2	+	3	473	c.177G>A	c.(175-177)gaG>gaA	p.E59E	VEGFB_ENST00000426086.2_Silent_p.E59E	NM_001243733.1|NM_003377.4	NP_001230662.1|NP_003368.1	P49765	VEGFB_HUMAN	vascular endothelial growth factor B	59					anti-apoptosis|induction of positive chemotaxis|negative regulation of gene expression|negative regulation of neuron apoptosis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of endothelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of mast cell chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of vascular endothelial growth factor receptor signaling pathway|positive regulation of vascular wound healing|vascular endothelial growth factor receptor signaling pathway	extracellular region|extracellular space|membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity|heparin binding|vascular endothelial growth factor receptor 1 binding			endometrium(2)|large_intestine(2)|prostate(1)|stomach(1)	6						TGACTGTGGAGCTCATGGGCA	0.627													8	18					0	0	1	0	0	A	64003358	G	A	64003358	2	1	81	1	0	0	0	0	0	0	0	1	17211	962	34	2		2	VEGFB	11	64003358	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	9104	64003358	71003158	8730	12346											
PPP1R14B	26472	broad.mit.edu	37	11	64012292	64012292	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:64012292G>T	ENST00000309318.3	-	4	645	c.378C>A	c.(376-378)gcC>gcA	p.A126A	PPP1R14B_ENST00000392210.2_Silent_p.A24A|PPP1R14B_ENST00000542235.1_Silent_p.A51A	NM_138689.2	NP_619634.1	Q96C90	PP14B_HUMAN	protein phosphatase 1, regulatory (inhibitor) subunit 14B	126					regulation of phosphorylation	cytoplasm	protein phosphatase inhibitor activity			kidney(1)|lung(1)|pancreas(1)	3						CAGAAATGAAGGCCTGGATGG	0.632													27	47					1.39806e-14	1.77612e-14	1	1	0	T	64012292	G	T	64012292	2	4	81	1	0	0	0	0	0	0	0	1	12409	987	35	4		4	PPP1R14B	11	64012292	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	8934	64012292	70994224	8731	12347											
PLCB3	5331	broad.mit.edu	37	11	64026160	64026160	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:64026160C>A	ENST00000540288.1	+	11	1331	c.1228C>A	c.(1228-1230)Ctc>Atc	p.L410I	PLCB3_ENST00000279230.6_Missense_Mutation_p.L410I|PLCB3_ENST00000325234.5_Missense_Mutation_p.L343I	NM_000932.2	NP_000923.1	Q01970	PLCB3_HUMAN	phospholipase C, beta 3 (phosphatidylinositol-specific)	410	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process|synaptic transmission	cytosol	calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1)	33						CCCCGTCATCCTCTCCTTCGA	0.602													22	35					1.85244e-09	2.23954e-09	1	1	0	A	64026160	C	A	64026160	3	1	81	1	0	0	0	0	1	0	0	0	12077	681	24	4	1270	4	PLCB3	11	64026160	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	13868	64026160	70980356	8732	12348											
PLCB3	5331	broad.mit.edu	37	11	64027527	64027527	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:64027527G>T	ENST00000540288.1	+	14	1655	c.1552G>T	c.(1552-1554)Ggc>Tgc	p.G518C	PLCB3_ENST00000279230.6_Missense_Mutation_p.G518C|PLCB3_ENST00000325234.5_Missense_Mutation_p.G451C	NM_000932.2	NP_000923.1	Q01970	PLCB3_HUMAN	phospholipase C, beta 3 (phosphatidylinositol-specific)	518					intracellular signal transduction|lipid catabolic process|synaptic transmission	cytosol	calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1)	33						CAGCTGCCCAGGCCTGAGCAA	0.622													6	18					5.9392e-07	6.87481e-07	1	1	0	T	64027527	G	T	64027527	3	4	81	1	0	0	0	0	1	0	0	0	12077	1000	35	4	1606	4	PLCB3	11	64027527	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1367	64027527	70978989	8733	12349											
PLCB3	5331	broad.mit.edu	37	11	64032853	64032853	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:64032853C>T	ENST00000540288.1	+	25	3017	c.2914C>T	c.(2914-2916)Cga>Tga	p.R972*	PLCB3_ENST00000279230.6_Nonsense_Mutation_p.R972*|PLCB3_ENST00000325234.5_Nonsense_Mutation_p.R905*	NM_000932.2	NP_000923.1	Q01970	PLCB3_HUMAN	phospholipase C, beta 3 (phosphatidylinositol-specific)	972					intracellular signal transduction|lipid catabolic process|synaptic transmission	cytosol	calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1)	33						CCGGCAAGAGCGAGACCTGCG	0.687													6	14					0	0	1	0	0	T	64032853	C	T	64032853	4	4	81	1	0	0	0	0	0	1	0	0	12077	760	27	1	3012	1	PLCB3	11	64032853	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	5326	64032853	70973663	8734	12350											
ESRRA	2101	broad.mit.edu	37	11	64081741	64081741	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:64081741G>A	ENST00000405666.1	+	4	707	c.473G>A	c.(472-474)cGg>cAg	p.R158Q	ESRRA_ENST00000406310.1_Missense_Mutation_p.R158Q|ESRRA_ENST00000000442.6_Missense_Mutation_p.R158Q	NM_001282450.1	NP_001269379.1	P11474	ERR1_HUMAN	estrogen-related receptor alpha	158					positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein domain specific binding|sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(8)	14						CGGGGTGGGCGGCAGAAGTAC	0.682													12	8					0	0	1	0	0	A	64081741	G	A	64081741	3	1	81	1	0	0	0	0	1	0	0	0	5288	1116	39	1	483	1	ESRRA	11	64081741	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	48888	64081741	70924775	8735	12351											
ESRRA	2101	broad.mit.edu	37	11	64083220	64083220	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:64083220C>T	ENST00000405666.1	+	7	1288	c.1054C>T	c.(1054-1056)Cga>Tga	p.R352*	ESRRA_ENST00000406310.1_Nonsense_Mutation_p.R351*|ESRRA_ENST00000000442.6_Nonsense_Mutation_p.R352*	NM_001282450.1	NP_001269379.1	P11474	ERR1_HUMAN	estrogen-related receptor alpha	352	Ligand binding domain.				positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein domain specific binding|sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(8)	14						GGAGCAGCTGCGAGAAGCTCT	0.667													6	84					0	0	1	0	0	T	64083220	C	T	64083220	4	4	81	1	0	0	0	0	0	1	0	0	5288	760	27	1	1076	1	ESRRA	11	64083220	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1479	64083220	70923296	8736	12352											
CCDC88B	283234	broad.mit.edu	37	11	64120274	64120274	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:64120274G>A	ENST00000356786.5	+	20	3459	c.3415G>A	c.(3415-3417)Gca>Aca	p.A1139T	CCDC88B_ENST00000463837.1_3'UTR|CCDC88B_ENST00000359902.2_Missense_Mutation_p.A291T|CCDC88B_ENST00000301897.4_5'UTR	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN	coiled-coil domain containing 88B	1139					microtubule cytoskeleton organization	cytoplasm	microtubule binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GGCCCTGCTGGCAGAGCGTGA	0.677													12	27					0	0	1	0	0	A	64120274	G	A	64120274	3	1	81	1	0	0	0	0	1	0	0	0	2884	1203	42	2	3493	2	CCDC88B	11	64120274	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	37054	64120274	70886242	8737	12353											
RASGRP2	10235	broad.mit.edu	37	11	64504321	64504321	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:64504321C>A	ENST00000377494.1	-	8	1921	c.999G>T	c.(997-999)aaG>aaT	p.K333N	RASGRP2_ENST00000354024.3_Missense_Mutation_p.K333N|RASGRP2_ENST00000394432.3_Missense_Mutation_p.K333N|RASGRP2_ENST00000377497.3_Missense_Mutation_p.K333N			Q7LDG7	GRP2_HUMAN	RAS guanyl releasing protein 2 (calcium and DAG-regulated)	333	Ras-GEF.				platelet activation|Ras protein signal transduction|regulation of cell growth|regulation of small GTPase mediated signal transduction	cell junction|cytosol|ruffle membrane|synapse|synaptosome	calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GCTGCTTCATCTTGGCCCCGT	0.657													14	14					4.3838e-07	5.09097e-07	1	1	0	A	64504321	C	A	64504321	3	1	81	1	0	0	0	0	1	0	0	0	13127	912	32	4	862	4	RASGRP2	11	64504321	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	384047	64504321	70502195	8738	12354											
PYGM	5837	broad.mit.edu	37	11	64527346	64527346	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:64527346C>A	ENST00000164139.3	-	1	423	c.25G>T	c.(25-27)Gag>Tag	p.E9*	PYGM_ENST00000377432.3_Nonsense_Mutation_p.E9*	NM_005609.2	NP_005600.1	P11217	PYGM_HUMAN	phosphorylase, glycogen, muscle	9					glucose metabolic process|glycogen catabolic process	cytosol	glycogen phosphorylase activity|protein binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					Pyridoxal Phosphate(DB00114)	TTTCTTTTCTCTTGGTCTGAC	0.592													7	87					0.000157383	0.000171784	1	1	0	A	64527346	C	A	64527346	4	1	81	1	0	0	0	0	0	1	0	0	12914	922	32	4	2583	4	PYGM	11	64527346	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	23025	64527346	70479170	8739	12355											
SF1	7536	broad.mit.edu	37	11	64533621	64533621	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:64533621G>A	ENST00000377390.3	-	13	1926	c.1589C>T	c.(1588-1590)aCg>aTg	p.T530M	SF1_ENST00000377387.1_Intron|SF1_ENST00000334944.5_Missense_Mutation_p.T530M|SF1_ENST00000377394.3_Intron|SF1_ENST00000433274.2_Missense_Mutation_p.T504M|SF1_ENST00000422298.2_Intron|SF1_ENST00000227503.9_Intron	NM_004630.3	NP_004621.2	Q15637	SF01_HUMAN	splicing factor 1	530	Pro-rich.				nuclear mRNA 3'-splice site recognition|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ribosome|spliceosomal complex	protein binding|RNA binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	31						GGTGGTAGTCGTCGTATCTGG	0.677													14	20					0	0	1	0	0	A	64533621	G	A	64533621	3	1	81	1	0	0	0	0	1	0	0	0	14199	1145	40	1	468	1	SF1	11	64533621	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	6275	64533621	70472895	8740	12356											
SF1	7536	broad.mit.edu	37	11	64540927	64540927	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:64540927C>A	ENST00000377390.3	-	3	548	c.211G>T	c.(211-213)Ggc>Tgc	p.G71C	SF1_ENST00000377387.1_Missense_Mutation_p.G196C|SF1_ENST00000334944.5_Missense_Mutation_p.G71C|SF1_ENST00000377394.3_Missense_Mutation_p.G71C|SF1_ENST00000433274.2_Missense_Mutation_p.G45C|SF1_ENST00000422298.2_Intron|SF1_ENST00000227503.9_Missense_Mutation_p.G71C	NM_004630.3	NP_004621.2	Q15637	SF01_HUMAN	splicing factor 1	71					nuclear mRNA 3'-splice site recognition|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ribosome|spliceosomal complex	protein binding|RNA binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	31						GGGGGGATGCCCAGGTCTCCT	0.443													3	25					0.00909568	0.00944708	1	1	0	A	64540927	C	A	64540927	3	1	81	1	0	0	0	0	1	0	0	0	14199	623	22	5	1890	5	SF1	11	64540927	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	7306	64540927	70465589	8741	12357											
MEN1	4221	broad.mit.edu	37	11	64575411	64575411	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:64575411G>A	ENST00000337652.1	-	3	1124	c.621C>T	c.(619-621)ggC>ggT	p.G207G	MEN1_ENST00000443283.1_Silent_p.G207G|MEN1_ENST00000377316.2_Silent_p.G202G|MEN1_ENST00000377313.1_Silent_p.G207G|MEN1_ENST00000312049.6_Silent_p.G202G|MEN1_ENST00000377326.3_Silent_p.G202G|MEN1_ENST00000394374.2_Silent_p.G207G|MEN1_ENST00000315422.4_Silent_p.G202G|MEN1_ENST00000394376.1_Silent_p.G207G|MEN1_ENST00000377321.1_Intron	NM_130803.2	NP_570715	O00255	MEN1_HUMAN	multiple endocrine neoplasia I	207					DNA repair|histone lysine methylation|MAPKKK cascade|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of JNK cascade|negative regulation of osteoblast differentiation|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of telomerase activity|negative regulation of transcription from RNA polymerase II promoter|osteoblast development|positive regulation of protein binding|positive regulation of transforming growth factor beta receptor signaling pathway|response to gamma radiation|response to UV|transcription, DNA-dependent	chromatin|cleavage furrow|cytosol|histone methyltransferase complex|nuclear matrix|soluble fraction	double-stranded DNA binding|four-way junction DNA binding|protein binding, bridging|protein N-terminus binding|R-SMAD binding|transcription regulatory region DNA binding|Y-form DNA binding			NS(7)|adrenal_gland(5)|breast(2)|central_nervous_system(5)|endometrium(1)|gastrointestinal_tract_(site_indeterminate)(15)|large_intestine(2)|lung(21)|ovary(1)|pancreas(64)|parathyroid(181)|pituitary(7)|prostate(4)|retroperitoneum(1)|skin(1)|small_intestine(13)|soft_tissue(4)|stomach(1)|thymus(2)	337						GGTCCTCGTTGCCCTTGCCGT	0.622			"D, Mis, N, F, S"		"parathyroid tumors, Pancreatic neuroendocrine tumors"	"parathyroid adenoma, pituitary adenoma, pancreatic islet cell, carcinoid"			Multiple Endocrine Neoplasia, type 1;Hyperparathyroidism, Familial Isolated				17	23					0	0	1	0	0	A	64575411	G	A	64575411	2	1	81	1	0	0	0	0	0	0	0	1	9522	1306	46	2		2	MEN1	11	64575411	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	34484	64575411	70431105	8742	12358											
CDC42BPG	55561	broad.mit.edu	37	11	64594754	64594754	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:64594754G>A	ENST00000342711.5	-	33	4266	c.4267C>T	c.(4267-4269)Cgc>Tgc	p.R1423C		NM_017525.2	NP_059995.2	Q6DT37	MRCKG_HUMAN	CDC42 binding protein kinase gamma (DMPK-like)	1423					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						GCGCACCTGCGCTGCTGCTTC	0.677													5	63					0	0	1	0	0	A	64594754	G	A	64594754	3	1	81	1	0	0	0	0	1	0	0	0	3096	1087	38	1	408	1	CDC42BPG	11	64594754	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	19343	64594754	70411762	8743	12359											
CDC42BPG	55561	broad.mit.edu	37	11	64594799	64594799	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:64594799G>A	ENST00000342711.5	-	33	4221	c.4222C>T	c.(4222-4224)Cgc>Tgc	p.R1408C		NM_017525.2	NP_059995.2	Q6DT37	MRCKG_HUMAN	CDC42 binding protein kinase gamma (DMPK-like)	1408					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						AAGAAGCGGCGCTTGCTCTTG	0.667													54	42					0	0	1	0	0	A	64594799	G	A	64594799	3	1	81	1	0	0	0	0	1	0	0	0	3096	1087	38	1	453	1	CDC42BPG	11	64594799	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	45	64594799	70411717	8744	12360											
EHD1	10938	broad.mit.edu	37	11	64622267	64622267	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:64622267C>T	ENST00000320631.3	-	5	1397	c.1143G>A	c.(1141-1143)acG>acA	p.T381T	EHD1_ENST00000359393.2_Silent_p.T381T|EHD1_ENST00000488711.1_5'UTR	NM_001282445.1|NM_006795.2	NP_001269374.1|NP_006786.2	Q9H4M9	EHD1_HUMAN	EH-domain containing 1	381					blood coagulation|cholesterol homeostasis|endocytic recycling|intracellular protein transport|low-density lipoprotein particle clearance|positive regulation of cholesterol storage|protein homooligomerization	early endosome membrane|lipid particle|plasma membrane|platelet dense tubular network membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	12						TGTCATCCACCGTGTCCAGCA	0.637													15	276					0	0	1	0	0	T	64622267	C	T	64622267	2	4	81	1	0	0	0	0	0	0	0	1	5003	639	23	1		1	EHD1	11	64622267	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	27468	64622267	70384249	8745	12361											
ATG2A	23130	broad.mit.edu	37	11	64662655	64662655	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:64662655G>T	ENST00000421419.2	-	41	5727	c.5613C>A	c.(5611-5613)atC>atA	p.I1871I	ATG2A_ENST00000377264.3_Silent_p.I1869I			Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	1869							protein binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						CCACGTCACAGATGGTCTGAG	0.682													7	54					2.0095e-06	2.30238e-06	1	1	0	T	64662655	G	T	64662655	2	4	81	1	0	0	0	0	0	0	0	1	1092	932	33	4		4	ATG2A	11	64662655	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	40388	64662655	70343861	8746	12362											
ATG2A	23130	broad.mit.edu	37	11	64664287	64664287	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:64664287G>A	ENST00000421419.2	-	38	5325	c.5211C>T	c.(5209-5211)gaC>gaT	p.D1737D	ATG2A_ENST00000377264.3_Silent_p.D1735D			Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	1735							protein binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						TCTTGCGGATGTCCTGCAGCC	0.637											OREG0004026	type=REGULATORY REGION|Gene=BC027481|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	17	30					0	0	1	0	0	A	64664287	G	A	64664287	2	1	81	1	0	0	0	0	0	0	0	1	1092	1368	48	2		2	ATG2A	11	64664287	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1632	64664287	70342229	8747	12363											
ATG2A	23130	broad.mit.edu	37	11	64674212	64674212	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:64674212C>T	ENST00000421419.2	-	20	3022	c.2908G>A	c.(2908-2910)Gtc>Atc	p.V970I	ATG2A_ENST00000377264.3_Missense_Mutation_p.V970I			Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	970							protein binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						TACTGGGAGACGCTGAAGAGG	0.622													10	47					0	0	1	0	0	T	64674212	C	T	64674212	3	4	81	1	0	0	0	0	1	0	0	0	1092	536	19	1	2996	1	ATG2A	11	64674212	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	9925	64674212	70332304	8748	12364											
C11orf85	283129	broad.mit.edu	37	11	64708114	64708114	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:64708114C>A	ENST00000536065.1	-	10	1528	c.224G>T	c.(223-225)aGg>aTg	p.R75M	C11orf85_ENST00000530444.1_Missense_Mutation_p.R103M|C11orf85_ENST00000432175.1_Missense_Mutation_p.G160W|C11orf85_ENST00000301896.5_Missense_Mutation_p.G160W			Q3KP22	CK085_HUMAN	chromosome 11 open reading frame 85	41										breast(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(2)	7						TTTTCTTTCCCTATTCTGTTA	0.408													6	80					0.00198382	0.00209725	1	1	0	A	64708114	C	A	64708114	3	1	81	1	0	0	0	0	1	0	0	0	1673	681	24	4	180	4	C11orf85	11	64708114	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	33902	64708114	70298402	8749	12365											
SNX15	29907	broad.mit.edu	37	11	64799950	64799950	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:64799950C>T	ENST00000377244.3	+	3	313	c.183C>T	c.(181-183)gaC>gaT	p.D61D	SNX15_ENST00000352068.5_Silent_p.D61D|RP11-399J13.3_ENST00000301886.3_3'UTR	NM_013306.4|NM_147777.3	NP_037438.2|NP_680086.2	Q9NRS6	SNX15_HUMAN	sorting nexin 15	61	PX.				cell communication|intracellular protein transport	cytoplasmic vesicle membrane|cytosol	phosphatidylinositol binding|protein transporter activity			endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	14						TGCATGGAGACCTGGCCTACA	0.622													17	22					0	0	1	0	0	T	64799950	C	T	64799950	2	4	81	1	0	0	0	0	0	0	0	1	14940	506	18	2		2	SNX15	11	64799950	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	91836	64799950	70206566	8750	12366											
SNX15	29907	broad.mit.edu	37	11	64806070	64806070	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:64806070G>A	ENST00000377244.3	+	7	821	c.691G>A	c.(691-693)Gtg>Atg	p.V231M	SNX15_ENST00000352068.5_Intron|RP11-399J13.3_ENST00000301886.3_3'UTR	NM_013306.4|NM_147777.3	NP_037438.2|NP_680086.2	Q9NRS6	SNX15_HUMAN	sorting nexin 15	231					cell communication|intracellular protein transport	cytoplasmic vesicle membrane|cytosol	phosphatidylinositol binding|protein transporter activity			endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	14						CCCCACCCATGTGGCTGAGCT	0.642													8	21					0	0	1	0	0	A	64806070	G	A	64806070	3	1	81	1	0	0	0	0	1	0	0	0	14940	1377	48	2	717	2	SNX15	11	64806070	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	6120	64806070	70200446	8751	12367											
NAALADL1	10004	broad.mit.edu	37	11	64824954	64824954	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:64824954G>T	ENST00000358658.3	-	4	519	c.492C>A	c.(490-492)gtC>gtA	p.V164V	NAALADL1_ENST00000356632.3_Silent_p.V164V|NAALADL1_ENST00000355369.2_Silent_p.V164V|NAALADL1_ENST00000339885.2_Silent_p.V164V|NAALADL1_ENST00000340252.4_Silent_p.V164V|NAALADL1_ENST00000355721.3_Intron	NM_005468.2	NP_005459.2	Q9UQQ1	NALDL_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 1	164					proteolysis	apical plasma membrane|integral to membrane	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	29						GGTTGGCATAGACGAGGAGGC	0.592													8	26					1.12685e-05	1.27052e-05	1	1	0	T	64824954	G	T	64824954	2	4	81	1	0	0	0	0	0	0	0	1	10177	929	33	4		4	NAALADL1	11	64824954	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	18884	64824954	70181562	8752	12368											
ZFPL1	7542	broad.mit.edu	37	11	64852626	64852626	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:64852626G>A	ENST00000294258.3	+	3	294	c.142G>A	c.(142-144)Gac>Aac	p.D48N		NM_006782.3	NP_006773.2	O95159	ZFPL1_HUMAN	zinc finger protein-like 1	48					regulation of transcription, DNA-dependent|vesicle-mediated transport	Golgi apparatus|integral to membrane|nucleus	DNA binding|zinc ion binding			breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	11						CCAAGATAGCGACTACAACCC	0.602													15	31					0	0	1	0	0	A	64852626	G	A	64852626	3	1	81	1	0	0	0	0	1	0	0	0	17714	1058	37	1	148	1	ZFPL1	11	64852626	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	27672	64852626	70153890	8753	12369											
TM7SF2	7108	broad.mit.edu	37	11	64880801	64880801	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:64880801C>A	ENST00000279263.7	+	4	576	c.414C>A	c.(412-414)acC>acA	p.T138T	TM7SF2_ENST00000540748.1_Silent_p.T22T|TM7SF2_ENST00000345348.5_Silent_p.T138T|TM7SF2_ENST00000531029.1_3'UTR	NM_003273.2	NP_003264.2	O76062	ERG24_HUMAN	transmembrane 7 superfamily member 2	138					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to plasma membrane	delta14-sterol reductase activity			lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						TTGTCGCCACCCTCACCGCTT	0.647											OREG0021072	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	73					0.000157383	0.000171784	1	1	0	A	64880801	C	A	64880801	2	1	81	1	0	0	0	0	0	0	0	1	16034	610	22	5		5	TM7SF2	11	64880801	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	28175	64880801	70125715	8754	12370											
ZNHIT2	741	broad.mit.edu	37	11	64884244	64884244	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:64884244C>T	ENST00000310597.4	-	1	926	c.882G>A	c.(880-882)ctG>ctA	p.L294L		NM_014205.2	NP_055020.1	Q9UHR6	ZNHI2_HUMAN	zinc finger, HIT-type containing 2	294							metal ion binding			breast(1)|endometrium(1)|large_intestine(2)|lung(1)|urinary_tract(1)	6						CCTCGCCCAGCAGGATGCGGG	0.706													5	45					0	0	1	0	0	T	64884244	C	T	64884244	2	4	81	1	0	0	0	0	0	0	0	1	18249	697	25	2		2	ZNHIT2	11	64884244	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3443	64884244	70122272	8755	12371											
SPDYC	387778	broad.mit.edu	37	11	64940338	64940338	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:64940338T>C	ENST00000377185.2	+	6	782	c.700T>C	c.(700-702)Tca>Cca	p.S234P		NM_001008778.1	NP_001008778.1	Q5MJ68	SPDYC_HUMAN	speedy/RINGO cell cycle regulator family member C	234					cell cycle	nucleus	protein kinase binding			breast(1)|endometrium(3)|large_intestine(2)|lung(9)|prostate(1)	16						TAAGCCTGTGTCATCCAAGTG	0.597													14	62					0	0	1	0	0	C	64940338	T	C	64940338	3	2	81	1	0	0	0	0	1	0	0	0	15084	1667	58	3	722	3	SPDYC	11	64940338	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	56094	64940338	70066178	8756	12372											
SLC22A20	440044	broad.mit.edu	37	11	65000723	65000723	+	RNA	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:65000723G>A	ENST00000525437.1	+	0	1184							A6NK97	S22AK_HUMAN							ion transport	integral to membrane	transmembrane transporter activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(2)	8						TCAACACCCCGGCCATGCTGG	0.602													3	38					0	0	1	0	0	A	65000723	G	A	65000723	1	1	81	0	1	0	0	0	0	0	0	0	14507	1131	39	1		1	SLC22A20	11	65000723	RNA	SNP	G	TCGA-DU-6392-01A-11D-1705-08	60385	65000723	70005793	8757	12373											
CDC42EP2	10435	broad.mit.edu	37	11	65088786	65088786	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:65088786G>T	ENST00000544348.1	+	2	1023	c.417G>T	c.(415-417)caG>caT	p.Q139H	CDC42EP2_ENST00000279249.2_Missense_Mutation_p.Q139H|CDC42EP2_ENST00000533419.1_Missense_Mutation_p.Q139H			O14613	BORG1_HUMAN	CDC42 effector protein (Rho GTPase binding) 2	139					actin filament organization|positive regulation of actin filament polymerization|positive regulation of pseudopodium assembly|regulation of cell shape	cytoplasm|cytoskeleton|endomembrane system|plasma membrane	GTP-Rho binding|Rho GTPase activator activity			lung(1)	1						AGACCCCTCAGCCTTCCCCAC	0.672													23	36					1.10513e-12	1.38486e-12	1	1	0	T	65088786	G	T	65088786	3	4	81	1	0	0	0	0	1	0	0	0	3098	962	34	4	419	4	CDC42EP2	11	65088786	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	88063	65088786	69917730	8758	12374											
DPF2	5977	broad.mit.edu	37	11	65109026	65109026	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:65109026C>T	ENST00000528416.1	+	4	591	c.458C>T	c.(457-459)gCg>gTg	p.A153V	DPF2_ENST00000415073.2_Missense_Mutation_p.A153V|DPF2_ENST00000532264.1_3'UTR|DPF2_ENST00000252268.4_Missense_Mutation_p.A153V	NM_006268.4	NP_006259.1	Q92785	REQU_HUMAN	D4, zinc and double PHD fingers family 2	153					apoptosis|induction of apoptosis by extracellular signals|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)	23						AACAGTCGAGCGCGAAAGGTA	0.562													9	23					0	0	1	0	0	T	65109026	C	T	65109026	3	4	81	1	0	0	0	0	1	0	0	0	4744	768	27	1	472	1	DPF2	11	65109026	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	20240	65109026	69897490	8759	12375											
LTBP3	4054	broad.mit.edu	37	11	65319442	65319442	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:65319442C>T	ENST00000301873.5	-	8	1800		c.e8+1		LTBP3_ENST00000322147.4_Splice_Site|LTBP3_ENST00000536982.1_Splice_Site	NM_001130144.2	NP_001123616.1	Q9NS15	LTBP3_HUMAN	latent transforming growth factor beta binding protein 3							extracellular region	calcium ion binding|growth factor binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(3)	23						TCAGGCTAGACCTCTCTCTTC	0.602											OREG0021081	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	88	98					0	0	1	0	0	T	65319442	C	T	65319442	5	4	81	1	0	0	0	0	0	0	1	0	9120	521	18	2	2463	2	LTBP3	11	65319442	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	210416	65319442	69687074	8760	12376											
LTBP3	4054	broad.mit.edu	37	11	65320346	65320346	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:65320346G>A	ENST00000301873.5	-	6	1439	c.1171C>T	c.(1171-1173)Cgt>Tgt	p.R391C	LTBP3_ENST00000322147.4_Missense_Mutation_p.R391C|LTBP3_ENST00000536982.1_Intron	NM_001130144.2	NP_001123616.1	Q9NS15	LTBP3_HUMAN	latent transforming growth factor beta binding protein 3	391	EGF-like 2; calcium-binding (Potential).					extracellular region	calcium ion binding|growth factor binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(3)	23						CACTGTGTACGGGAGGGGCCT	0.602													4	47					0	0	1	0	0	A	65320346	G	A	65320346	3	1	81	1	0	0	0	0	1	0	0	0	9120	1116	39	1	2832	1	LTBP3	11	65320346	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	904	65320346	69686170	8761	12377											
LTBP3	4054	broad.mit.edu	37	11	65325242	65325242	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:65325242C>A	ENST00000301873.5	-	1	457	c.189G>T	c.(187-189)aaG>aaT	p.K63N	LTBP3_ENST00000322147.4_Missense_Mutation_p.K63N	NM_001130144.2	NP_001123616.1	Q9NS15	LTBP3_HUMAN	latent transforming growth factor beta binding protein 3	63	Gly-rich.					extracellular region	calcium ion binding|growth factor binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(3)	23						CAAAGACCACCTTGAAGCGCT	0.711													6	14					0.00198382	0.00209725	1	1	0	A	65325242	C	A	65325242	3	1	81	1	0	0	0	0	1	0	0	0	9120	680	24	4	3834	4	LTBP3	11	65325242	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	4896	65325242	69681274	8762	12378											
EHBP1L1	254102	broad.mit.edu	37	11	65347678	65347678	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:65347678G>A	ENST00000309295.4	+	5	704	c.439G>A	c.(439-441)Gct>Act	p.A147T		NM_001099409.1	NP_001092879.1	Q8N3D4	EH1L1_HUMAN	EH domain binding protein 1-like 1	147										central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						GGTGGTGCAGGCTGAGCTGAG	0.667													10	29					0	0	1	0	0	A	65347678	G	A	65347678	3	1	81	1	0	0	0	0	1	0	0	0	5002	1203	42	2	457	2	EHBP1L1	11	65347678	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	22436	65347678	69658838	8763	12379											
EHBP1L1	254102	broad.mit.edu	37	11	65349686	65349686	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:65349686G>A	ENST00000309295.4	+	9	1808	c.1543G>A	c.(1543-1545)Gca>Aca	p.A515T		NM_001099409.1	NP_001092879.1	Q8N3D4	EH1L1_HUMAN	EH domain binding protein 1-like 1	515										central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						GAGGGGTGGAGCACCTGGTAT	0.652													13	10					0	0	1	0	0	A	65349686	G	A	65349686	3	1	81	1	0	0	0	0	1	0	0	0	5002	971	34	2	1577	2	EHBP1L1	11	65349686	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2008	65349686	69656830	8764	12380											
EHBP1L1	254102	broad.mit.edu	37	11	65351009	65351009	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:65351009G>A	ENST00000309295.4	+	9	3131	c.2866G>A	c.(2866-2868)Gaa>Aaa	p.E956K		NM_001099409.1	NP_001092879.1	Q8N3D4	EH1L1_HUMAN	EH domain binding protein 1-like 1	956										central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						GGGGGCCCAGGAAGCAGAGAT	0.542													11	25					0	0	1	0	0	A	65351009	G	A	65351009	3	1	81	1	0	0	0	0	1	0	0	0	5002	1175	41	2	2900	2	EHBP1L1	11	65351009	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1323	65351009	69655507	8765	12381											
KCNK7	10089	broad.mit.edu	37	11	65360609	65360609	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:65360609G>A	ENST00000340313.4	-	3	1014	c.791C>T	c.(790-792)gCc>gTc	p.A264V	KCNK7_ENST00000394216.2_3'UTR|KCNK7_ENST00000342202.4_3'UTR|KCNK7_ENST00000394217.2_3'UTR	NM_033347.1	NP_203133.1	Q9Y2U2	KCNK7_HUMAN	potassium channel, subfamily K, member 7	264						integral to membrane	potassium channel activity|voltage-gated ion channel activity			endometrium(1)|liver(1)|lung(1)	3						CTTCCCCATGGCACGGACCTG	0.622													14	9					0	0	1	0	0	A	65360609	G	A	65360609	3	1	81	1	0	0	0	0	1	0	0	0	8115	1203	42	2	136	2	KCNK7	11	65360609	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	9600	65360609	69645907	8766	12382											
KCNK7	10089	broad.mit.edu	37	11	65361297	65361297	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:65361297A>G	ENST00000394216.2	-	2	591	c.368T>C	c.(367-369)aTg>aCg	p.M123T	KCNK7_ENST00000340313.4_Missense_Mutation_p.M123T|KCNK7_ENST00000342202.4_Missense_Mutation_p.M123T|KCNK7_ENST00000394217.2_Missense_Mutation_p.M123T	NM_005714.1|NM_033455.1	NP_005705.1|NP_258416.1	Q9Y2U2	KCNK7_HUMAN	potassium channel, subfamily K, member 7	123						integral to membrane	potassium channel activity|voltage-gated ion channel activity			endometrium(1)|liver(1)|lung(1)	3						TGCATAGACCATGCAGAAGGC	0.627											OREG0021083	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	61					0	0	1	0	0	G	65361297	A	G	65361297	3	3	81	1	0	0	0	0	1	0	0	0	8115	217	8	3	664	3	KCNK7	11	65361297	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	688	65361297	69645219	8767	12383											
MAP3K11	4296	broad.mit.edu	37	11	65366003	65366003	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:65366003C>T	ENST00000309100.3	-	10	2788	c.2303G>A	c.(2302-2304)cGg>cAg	p.R768Q	MAP3K11_ENST00000530153.1_Missense_Mutation_p.R511Q|MAP3K11_ENST00000532507.1_Missense_Mutation_p.R184Q	NM_002419.3	NP_002410.1	Q16584	M3K11_HUMAN	mitogen-activated protein kinase kinase kinase 11	768	Pro-rich.				activation of JUN kinase activity|cell proliferation|G1 phase of mitotic cell cycle|microtubule-based process|positive regulation of JNK cascade|protein autophosphorylation	centrosome|microtubule	ATP binding|JUN kinase kinase kinase activity|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity			breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(14)|skin(1)	24						GGGCGAGGGCCGAGGTCGGCT	0.682													9	11					0	0	1	0	0	T	65366003	C	T	65366003	3	4	81	1	0	0	0	0	1	0	0	0	9295	652	23	1	244	1	MAP3K11	11	65366003	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	4706	65366003	69640513	8768	12384											
PCNXL3	399909	broad.mit.edu	37	11	65396306	65396306	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:65396306C>T	ENST00000355703.3	+	24	4367	c.3828C>T	c.(3826-3828)ttC>ttT	p.F1276F		NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN	pecanex-like 3 (Drosophila)	1276						integral to membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						CCATGCTGTTCGTCCAGGCCC	0.667													5	14					0	0	1	0	0	T	65396306	C	T	65396306	2	4	81	1	0	0	0	0	0	0	0	1	11640	883	31	1		1	PCNXL3	11	65396306	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	30303	65396306	69610210	8769	12385											
PCNXL3	399909	broad.mit.edu	37	11	65402798	65402798	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:65402798G>A	ENST00000355703.3	+	31	5602	c.5063G>A	c.(5062-5064)cGc>cAc	p.R1688H		NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN	pecanex-like 3 (Drosophila)	1688						integral to membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						CCAGCATGGCGCAGCGCCATC	0.612													3	3					0	0	1	0	0	A	65402798	G	A	65402798	3	1	81	1	0	0	0	0	1	0	0	0	11640	1087	38	1	5185	1	PCNXL3	11	65402798	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	6492	65402798	69603718	8770	12386											
PCNXL3	399909	broad.mit.edu	37	11	65403922	65403922	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:65403922G>A	ENST00000355703.3	+	34	6193	c.5654G>A	c.(5653-5655)gGc>gAc	p.G1885D		NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN	pecanex-like 3 (Drosophila)	1885	Gly-rich.					integral to membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						TCCCTGAGTGGCTCTGGTGAT	0.692													19	22					0	0	1	0	0	A	65403922	G	A	65403922	3	1	81	1	0	0	0	0	1	0	0	0	11640	1203	42	2	5788	2	PCNXL3	11	65403922	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1124	65403922	69602594	8771	12387											
SIPA1	6494	broad.mit.edu	37	11	65409022	65409022	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:65409022G>A	ENST00000394224.3	+	2	926	c.630G>A	c.(628-630)gaG>gaA	p.E210E	SIPA1_ENST00000534313.1_Silent_p.E210E|SIPA1_ENST00000527525.1_Silent_p.E210E|SIPA1_ENST00000394227.3_Silent_p.E210E	NM_153253.29	NP_694985.29	Q96FS4	SIPA1_HUMAN	signal-induced proliferation-associated 1	210					cell proliferation|cytoskeleton organization|intracellular signal transduction|negative regulation of cell adhesion|negative regulation of cell cycle|negative regulation of cell growth	cytosol|endomembrane system|membrane|perinuclear region of cytoplasm	Rap GTPase activator activity			cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	10						ACAGCCTGGAGCACGCAGACC	0.622													14	17					0	0	1	0	0	A	65409022	G	A	65409022	2	1	81	1	0	0	0	0	0	0	0	1	14383	962	34	2		2	SIPA1	11	65409022	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	5100	65409022	69597494	8772	12388											
SIPA1	6494	broad.mit.edu	37	11	65413705	65413705	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:65413705G>A	ENST00000394224.3	+	7	1573	c.1277G>A	c.(1276-1278)cGc>cAc	p.R426H	SIPA1_ENST00000534313.1_Missense_Mutation_p.R426H|SIPA1_ENST00000527525.1_Missense_Mutation_p.R426H|SIPA1_ENST00000394227.3_Missense_Mutation_p.R426H	NM_153253.29	NP_694985.29	Q96FS4	SIPA1_HUMAN	signal-induced proliferation-associated 1	426	Rap-GAP.				cell proliferation|cytoskeleton organization|intracellular signal transduction|negative regulation of cell adhesion|negative regulation of cell cycle|negative regulation of cell growth	cytosol|endomembrane system|membrane|perinuclear region of cytoplasm	Rap GTPase activator activity			cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	10						CTCCGGAAGCGCCACATTGGC	0.587													44	32					0	0	1	0	0	A	65413705	G	A	65413705	3	1	81	1	0	0	0	0	1	0	0	0	14383	1087	38	1	1299	1	SIPA1	11	65413705	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	4683	65413705	69592811	8773	12389											
RELA	5970	broad.mit.edu	37	11	65429251	65429251	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:65429251G>T	ENST00000525693.1	-	4	304	c.242C>A	c.(241-243)cCt>cAt	p.P81H	RELA_ENST00000406246.3_Missense_Mutation_p.P81H|RELA_ENST00000308639.9_Missense_Mutation_p.P81H			Q04206	TF65_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog A	81	RHD.				anti-apoptosis|cellular defense response|cytokine-mediated signaling pathway|defense response to virus|inflammatory response|innate immune response|interspecies interaction between organisms|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription, DNA-dependent|nerve growth factor receptor signaling pathway|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of inflammatory response|response to interleukin-1|response to UV-B|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|transcription factor complex	activating transcription factor binding|chromatin binding|identical protein binding|NF-kappaB binding|phosphate binding|protein kinase binding|protein N-terminus binding|repressing transcription factor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(11)|ovary(1)|urinary_tract(1)	19						CCGGTGAGGAGGGTCCTTGGT	0.592													9	45					1.08611e-07	1.27405e-07	1	1	0	T	65429251	G	T	65429251	3	4	81	1	0	0	0	0	1	0	0	0	13268	1000	35	4	1445	4	RELA	11	65429251	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	15546	65429251	69577265	8774	12390											
RELA	5970	broad.mit.edu	37	11	65429438	65429438	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:65429438T>C	ENST00000525693.1	-	3	218	c.156A>G	c.(154-156)acA>acG	p.T52T	RELA_ENST00000406246.3_Silent_p.T52T|RELA_ENST00000308639.9_Silent_p.T52T			Q04206	TF65_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog A	52	RHD.				anti-apoptosis|cellular defense response|cytokine-mediated signaling pathway|defense response to virus|inflammatory response|innate immune response|interspecies interaction between organisms|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription, DNA-dependent|nerve growth factor receptor signaling pathway|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of inflammatory response|response to interleukin-1|response to UV-B|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|transcription factor complex	activating transcription factor binding|chromatin binding|identical protein binding|NF-kappaB binding|phosphate binding|protein kinase binding|protein N-terminus binding|repressing transcription factor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(11)|ovary(1)|urinary_tract(1)	19						TGGTGGTATCTGTGCTCCTCT	0.637													5	32					0	0	1	0	0	C	65429438	T	C	65429438	2	2	81	1	0	0	0	0	0	0	0	1	13268	1567	55	3		3	RELA	11	65429438	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	187	65429438	69577078	8775	12391											
KAT5	10524	broad.mit.edu	37	11	65481966	65481966	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:65481966G>T	ENST00000341318.4	+	7	925	c.691G>T	c.(691-693)Gac>Tac	p.D231Y	KAT5_ENST00000534650.1_5'UTR|KAT5_ENST00000530446.1_Splice_Site_p.D179Y|KAT5_ENST00000377046.3_Splice_Site_p.D198Y|KAT5_ENST00000352980.4_Splice_Site_p.D146Y	NM_182710.2	NP_874369.1	Q92993	KAT5_HUMAN	K(lysine) acetyltransferase 5	198					androgen receptor signaling pathway|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|double-strand break repair|interspecies interaction between organisms|negative regulation of interleukin-2 production|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of growth|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nucleolus|perinuclear region of cytoplasm|Piccolo NuA4 histone acetyltransferase complex	androgen receptor binding|histone acetyltransferase activity|metal ion binding|repressing transcription factor binding|transcription coactivator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)	21						CCCTGGGCAGGACTCCCAGGA	0.552													15	17					2.32078e-09	2.80257e-09	1	1	0	T	65481966	G	T	65481966	5	4	81	1	0	0	0	0	0	0	1	0	8027	1188	41	5	717	5	KAT5	11	65481966	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	52528	65481966	69524550	8776	12392											
MUS81	80198	broad.mit.edu	37	11	65632736	65632736	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:65632736C>T	ENST00000308110.4	+	14	1796	c.1447C>T	c.(1447-1449)Cgc>Tgc	p.R483C	MUS81_ENST00000533035.1_Missense_Mutation_p.R408C	NM_025128.4	NP_079404.3	Q96NY9	MUS81_HUMAN	MUS81 structure-specific endonuclease subunit	483					DNA recombination|DNA repair	nucleolus	3'-flap endonuclease activity|DNA binding|metal ion binding|protein binding			endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	13				READ - Rectum adenocarcinoma(159;0.166)		GATGCAGGTGCGCGGAGTGAG	0.647								Homologous recombination					31	49					0	0	1	0	0	T	65632736	C	T	65632736	3	4	81	1	0	0	0	0	1	0	0	0	10036	768	27	1	1501	1	MUS81	11	65632736	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	150770	65632736	69373780	8777	12393											
CTSW	1521	broad.mit.edu	37	11	65650948	65650948	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:65650948C>A	ENST00000528419.1	+	9	1077	c.1073C>A	c.(1072-1074)cCt>cAt	p.P358H	CTSW_ENST00000307886.3_Intron			P56202	CATW_HUMAN	cathepsin W	0					immune response|proteolysis		cysteine-type endopeptidase activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(5)	9				READ - Rectum adenocarcinoma(159;0.168)		CTCTTCCCACCTTCCCGCCCC	0.602													6	80					0.00198382	0.00209725	1	1	0	A	65650948	C	A	65650948	3	1	81	1	0	0	0	0	1	0	0	0	4066	696	24	4		4	CTSW	11	65650948	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	18212	65650948	69355568	8778	12394											
SART1	9092	broad.mit.edu	37	11	65733943	65733943	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:65733943C>A	ENST00000312397.5	+	9	1196	c.1104C>A	c.(1102-1104)atC>atA	p.I368I		NM_005146.4	NP_005137.1	O43290	SNUT1_HUMAN	squamous cell carcinoma antigen recognized by T cells	368					cell cycle arrest|induction of apoptosis by intracellular signals|positive regulation of cytotoxic T cell differentiation|spliceosomal snRNP assembly	Cajal body|catalytic step 2 spliceosome|cytosol				endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						TGGAGGAGATCCGGGCCAAGC	0.672													11	16					2.80697e-09	3.37799e-09	1	1	0	A	65733943	C	A	65733943	2	1	81	1	0	0	0	0	0	0	0	1	13899	845	30	5		5	SART1	11	65733943	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	82995	65733943	69272573	8779	12395											
SART1	9092	broad.mit.edu	37	11	65734851	65734851	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:65734851C>A	ENST00000312397.5	+	10	1402	c.1310C>A	c.(1309-1311)tCc>tAc	p.S437Y		NM_005146.4	NP_005137.1	O43290	SNUT1_HUMAN	squamous cell carcinoma antigen recognized by T cells	437					cell cycle arrest|induction of apoptosis by intracellular signals|positive regulation of cytotoxic T cell differentiation|spliceosomal snRNP assembly	Cajal body|catalytic step 2 spliceosome|cytosol				endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						GACTTTGGTTCCAGGTGGGCT	0.632													58	101					2.3441e-25	3.1015e-25	1	1	0	A	65734851	C	A	65734851	3	1	81	1	0	0	0	0	1	0	0	0	13899	855	30	5	1348	5	SART1	11	65734851	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	908	65734851	69271665	8780	12396											
SART1	9092	broad.mit.edu	37	11	65745328	65745328	+	Silent	SNP	C	C	T	rs149311843		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:65745328C>T	ENST00000312397.5	+	17	2222	c.2130C>T	c.(2128-2130)atC>atT	p.I710I		NM_005146.4	NP_005137.1	O43290	SNUT1_HUMAN	squamous cell carcinoma antigen recognized by T cells	710					cell cycle arrest|induction of apoptosis by intracellular signals|positive regulation of cytotoxic T cell differentiation|spliceosomal snRNP assembly	Cajal body|catalytic step 2 spliceosome|cytosol				endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						ACGTTAAGATCGAATACGTGG	0.612													6	17					0	0	1	0	0	T	65745328	C	T	65745328	2	4	81	1	0	0	0	0	0	0	0	1	13899	874	31	1		1	SART1	11	65745328	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	10477	65745328	69261188	8781	12397											
EIF1AD	84285	broad.mit.edu	37	11	65766122	65766122	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:65766122C>T	ENST00000312234.2	-	6	780	c.446G>A	c.(445-447)cGc>cAc	p.R149H	EIF1AD_ENST00000525767.1_Missense_Mutation_p.R97H|EIF1AD_ENST00000529964.1_Missense_Mutation_p.R149H|EIF1AD_ENST00000527249.1_Missense_Mutation_p.R149H|EIF1AD_ENST00000526451.1_Missense_Mutation_p.R149H|EIF1AD_ENST00000533544.1_Missense_Mutation_p.R149H	NM_001242481.1|NM_001242482.1|NM_001242483.1|NM_032325.3	NP_001229410.1|NP_001229411.1|NP_001229412.1|NP_115701.2	Q8N9N8	EIF1A_HUMAN	eukaryotic translation initiation factor 1A domain containing	149						nucleus	translation initiation factor activity			lung(5)	5						ATACTGTCTGCGGTTTGTGTT	0.532													10	200					0	0	1	0	0	T	65766122	C	T	65766122	3	4	81	1	0	0	0	0	1	0	0	0	5017	768	27	1	55	1	EIF1AD	11	65766122	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	20794	65766122	69240394	8782	12398											
CATSPER1	117144	broad.mit.edu	37	11	65787651	65787651	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:65787651C>A	ENST00000312106.5	-	9	2222	c.2085G>T	c.(2083-2085)gaG>gaT	p.E695D		NM_053054.3	NP_444282.3	Q8NEC5	CTSR1_HUMAN	cation channel, sperm associated 1	695					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	protein binding			breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						CCAGCAGCTTCTCTTGGATCC	0.667													19	47					9.7654e-05	0.000107398	1	1	0	A	65787651	C	A	65787651	3	1	81	1	0	0	0	0	1	0	0	0	2705	912	32	4	273	4	CATSPER1	11	65787651	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	21529	65787651	69218865	8783	12399											
CATSPER1	117144	broad.mit.edu	37	11	65788617	65788617	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:65788617G>A	ENST00000312106.5	-	5	1868	c.1731C>T	c.(1729-1731)ggC>ggT	p.G577G		NM_053054.3	NP_444282.3	Q8NEC5	CTSR1_HUMAN	cation channel, sperm associated 1	577					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	protein binding			breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						GCAAGGACTGGCCCAGGGTCC	0.647													6	11					0	0	1	0	0	A	65788617	G	A	65788617	2	1	81	1	0	0	0	0	0	0	0	1	2705	1190	42	2		2	CATSPER1	11	65788617	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	966	65788617	69217899	8784	12400											
CATSPER1	117144	broad.mit.edu	37	11	65793574	65793574	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:65793574G>A	ENST00000312106.5	-	1	414	c.277C>T	c.(277-279)Ccc>Tcc	p.P93S		NM_053054.3	NP_444282.3	Q8NEC5	CTSR1_HUMAN	cation channel, sperm associated 1	93	His-rich.				cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	protein binding			breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						AAGCCTGTGGGGCCATGGGCT	0.617													11	132					0	0	1	0	0	A	65793574	G	A	65793574	3	1	81	1	0	0	0	0	1	0	0	0	2705	1232	43	2	2113	2	CATSPER1	11	65793574	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	4957	65793574	69212942	8785	12401											
RAB1B	81876	broad.mit.edu	37	11	66039663	66039663	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:66039663C>T	ENST00000311481.6	+	3	270	c.123C>T	c.(121-123)atC>atT	p.I41I	RP11-867G23.3_ENST00000501708.1_lincRNA|RAB1B_ENST00000527397.1_Silent_p.I41I	NM_030981.2	NP_112243.1	Q9H0U4	RAB1B_HUMAN	RAB1B, member RAS oncogene family	41					protein transport|small GTPase mediated signal transduction	Golgi apparatus|membrane	GTP binding|protein binding			large_intestine(2)|lung(1)|ovary(1)|prostate(1)	5						TCAGCACCATCGGGGTGGACT	0.502													63	126					0	0	1	0	0	T	66039663	C	T	66039663	2	4	81	1	0	0	0	0	0	0	0	1	12958	874	31	1		1	RAB1B	11	66039663	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	246089	66039663	68966853	8786	12402											
YIF1A	10897	broad.mit.edu	37	11	66052906	66052906	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:66052906C>T	ENST00000376901.4	-	6	771	c.587G>A	c.(586-588)cGc>cAc	p.R196H	YIF1A_ENST00000359461.6_Intron|YIF1A_ENST00000471387.2_Missense_Mutation_p.R53H|YIF1A_ENST00000526497.1_5'UTR	NM_020470.2	NP_065203.2	O95070	YIF1A_HUMAN	Yip1 interacting factor homolog A (S. cerevisiae)	196					protein transport|vesicle-mediated transport	centrosome|endoplasmic reticulum membrane|ER-Golgi intermediate compartment|Golgi membrane|integral to membrane				endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(2)|stomach(1)	9						CAGGTCACTGCGCACGGTGGC	0.647													25	25					0	0	1	0	0	T	66052906	C	T	66052906	3	4	81	1	0	0	0	0	1	0	0	0	17535	768	27	1	306	1	YIF1A	11	66052906	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	13243	66052906	68953610	8787	12403											
RIN1	9610	broad.mit.edu	37	11	66102523	66102523	+	Silent	SNP	C	C	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:66102523C>G	ENST00000311320.4	-	6	873	c.747G>C	c.(745-747)gtG>gtC	p.V249V	RIN1_ENST00000424433.2_Silent_p.V144V|RIN1_ENST00000530056.1_Silent_p.V144V|RP11-867G23.12_ENST00000526655.1_RNA	NM_004292.2	NP_004283.2	Q13671	RIN1_HUMAN	Ras and Rab interactor 1	249					endocytosis|signal transduction	cytoplasm|cytoskeleton|plasma membrane	GTPase activator activity|protein binding			breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|ovary(1)	14						TCTCTGTGGACACGCGCACTT	0.672													20	38					0	0	1	0	0	G	66102523	C	G	66102523	2	3	81	1	0	0	0	0	0	0	0	1	13423	465	17	5		5	RIN1	11	66102523	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	49617	66102523	68903993	8788	12404	56	2									
RIN1	9610	broad.mit.edu	37	11	66102528	66102528	+	Missense_Mutation	SNP	G	G	A	rs141887009		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:66102528G>A	ENST00000311320.4	-	6	868	c.742C>T	c.(742-744)Cgc>Tgc	p.R248C	RIN1_ENST00000424433.2_Missense_Mutation_p.R143C|RIN1_ENST00000530056.1_Missense_Mutation_p.R143C|RP11-867G23.12_ENST00000526655.1_RNA	NM_004292.2	NP_004283.2	Q13671	RIN1_HUMAN	Ras and Rab interactor 1	248					endocytosis|signal transduction	cytoplasm|cytoskeleton|plasma membrane	GTPase activator activity|protein binding			breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|ovary(1)	14						GTGGACACGCGCACTTTGAAG	0.667													37	32					0	0	1	0	0	A	66102528	G	A	66102528	3	1	81	1	0	0	0	0	1	0	0	0	13423	1087	38	1	1629	1	RIN1	11	66102528	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	5	66102528	68903988	8789	12405	56	2									
SLC29A2	3177	broad.mit.edu	37	11	66136899	66136899	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:66136899C>T	ENST00000357440.2	-	3	444	c.216G>A	c.(214-216)acG>acA	p.T72T	SLC29A2_ENST00000311161.7_Silent_p.T72T|SLC29A2_ENST00000546034.1_Silent_p.T72T|SLC29A2_ENST00000544554.1_Silent_p.T72T	NM_001532.2	NP_001523.2	Q14542	S29A2_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 2	72					cell proliferation|nucleobase, nucleoside and nucleotide metabolic process	basolateral plasma membrane|integral to plasma membrane|nuclear membrane|nucleolus	nucleoside transmembrane transporter activity			breast(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10						GGGACAGCAGCGTCACCCAAT	0.647													69	133					0	0	1	0	0	T	66136899	C	T	66136899	2	4	81	1	0	0	0	0	0	0	0	1	14590	755	27	1		1	SLC29A2	11	66136899	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	34371	66136899	68869617	8790	12406											
MRPL11	65003	broad.mit.edu	37	11	66204828	66204828	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:66204828C>A	ENST00000310999.7	-	3	399	c.306G>T	c.(304-306)cgG>cgT	p.R102R	MRPL11_ENST00000430466.2_Silent_p.R76R|MRPL11_ENST00000524576.1_5'UTR|MRPL11_ENST00000329819.4_Silent_p.R102R	NM_016050.3	NP_057134.1	Q9Y3B7	RM11_HUMAN	mitochondrial ribosomal protein L11	102					translation		structural constituent of ribosome			endometrium(3)|lung(2)|ovary(1)|prostate(1)	7						CACCTGTTTGCCGGGCCCCCT	0.507													8	39					0.0381472	0.0389402	1	1	0	A	66204828	C	A	66204828	2	1	81	1	0	0	0	0	0	0	0	1	9825	726	26	5		5	MRPL11	11	66204828	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	67929	66204828	68801688	8791	12407											
PELI3	246330	broad.mit.edu	37	11	66235654	66235654	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:66235654C>T	ENST00000349459.6	+	2	339	c.55C>T	c.(55-57)Cac>Tac	p.H19Y	PELI3_ENST00000524466.1_Missense_Mutation_p.H19Y|PELI3_ENST00000531856.1_Intron|PELI3_ENST00000320740.7_Missense_Mutation_p.H19Y	NM_001098510.1	NP_001091980.1	Q8N2H9	PELI3_HUMAN	pellino E3 ubiquitin protein ligase family member 3	19						cytosol	protein binding			breast(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)	15						AGACCTCCAGCACCGGGGGAA	0.597													10	50					0	0	1	0	0	T	66235654	C	T	66235654	3	4	81	1	0	0	0	0	1	0	0	0	11770	710	25	2	57	2	PELI3	11	66235654	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	30826	66235654	68770862	8792	12408											
PELI3	246330	broad.mit.edu	37	11	66241285	66241285	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:66241285G>A	ENST00000349459.6	+	6	941	c.657G>A	c.(655-657)ccG>ccA	p.P219P	PELI3_ENST00000524466.1_Silent_p.P243P|PELI3_ENST00000531856.1_Intron|PELI3_ENST00000320740.7_Silent_p.P243P|CTD-3074O7.5_ENST00000527092.1_RNA	NM_001098510.1	NP_001091980.1	Q8N2H9	PELI3_HUMAN	pellino E3 ubiquitin protein ligase family member 3	243						cytosol	protein binding			breast(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)	15						TGATGCACCCGGCAGGCGGCT	0.637													34	24					0	0	1	0	0	A	66241285	G	A	66241285	2	1	81	1	0	0	0	0	0	0	0	1	11770	1103	39	1		1	PELI3	11	66241285	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	5631	66241285	68765231	8793	12409											
DPP3	10072	broad.mit.edu	37	11	66260231	66260231	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:66260231C>T	ENST00000532677.1	+	10	1491	c.1090C>T	c.(1090-1092)Cgg>Tgg	p.R364W	DPP3_ENST00000533799.1_3'UTR|DPP3_ENST00000360510.2_Missense_Mutation_p.R345W|DPP3_ENST00000531863.1_Missense_Mutation_p.R365W|DPP3_ENST00000453114.1_Missense_Mutation_p.R345W|DPP3_ENST00000541961.1_Missense_Mutation_p.R345W|DPP3_ENST00000530165.1_Missense_Mutation_p.R315W	NM_001256670.1|NM_005700.4|NM_130443.3	NP_001243599.1|NP_005691.2|NP_569710.2	Q9NY33	DPP3_HUMAN	dipeptidyl-peptidase 3	345					proteolysis	cytoplasm	aminopeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)	23						CAAGTTTGAGCGGCTGGTGGC	0.607													26	55					0	0	1	0	0	T	66260231	C	T	66260231	3	4	81	1	0	0	0	0	1	0	0	0	4754	759	27	1	1067	1	DPP3	11	66260231	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	18946	66260231	68746285	8794	12410											
DPP3	10072	broad.mit.edu	37	11	66260289	66260289	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:66260289A>C	ENST00000532677.1	+	10	1549	c.1148A>C	c.(1147-1149)gAg>gCg	p.E383A	DPP3_ENST00000533799.1_3'UTR|DPP3_ENST00000360510.2_Missense_Mutation_p.E364A|DPP3_ENST00000531863.1_Missense_Mutation_p.E384A|DPP3_ENST00000453114.1_Missense_Mutation_p.E364A|DPP3_ENST00000541961.1_Missense_Mutation_p.E364A|DPP3_ENST00000530165.1_Missense_Mutation_p.E334A	NM_001256670.1|NM_005700.4|NM_130443.3	NP_001243599.1|NP_005691.2|NP_569710.2	Q9NY33	DPP3_HUMAN	dipeptidyl-peptidase 3	364					proteolysis	cytoplasm	aminopeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)	23						CCAACCTTTGAGAAGGACAAG	0.592													6	71					0	0	1	0	0	C	66260289	A	C	66260289	3	2	81	1	0	0	0	0	1	0	0	0	4754	304	11	5	1125	5	DPP3	11	66260289	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	58	66260289	68746227	8795	12411											
ACTN3	89	broad.mit.edu	37	11	66327541	66327541	+	RNA	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:66327541G>A	ENST00000504911.1	-	0	220				ACTN3_ENST00000513398.1_RNA|ACTN3_ENST00000502692.1_RNA																							GGCGGGATGCGCTAGAGGTGG	0.667													3	3					0	0	1	0	0	A	66327541	G	A	66327541	1	1	81	0	1	0	0	0	0	0	0	0	206	1074	38	1		1	ACTN3	11	66327541	RNA	SNP	G	TCGA-DU-6392-01A-11D-1705-08	67252	66327541	68678975	8796	12412											
CCDC87	55231	broad.mit.edu	37	11	66359608	66359608	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:66359608G>T	ENST00000333861.3	-	1	946	c.879C>A	c.(877-879)ccC>ccA	p.P293P		NM_018219.2	NP_060689.2	Q9NVE4	CCD87_HUMAN	coiled-coil domain containing 87	293										central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						CCCTGCTGGTGGGGGCCACAG	0.607													8	86					1.12685e-05	1.27052e-05	1	1	0	T	66359608	G	T	66359608	2	4	81	1	0	0	0	0	0	0	0	1	2882	1335	47	5		5	CCDC87	11	66359608	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	32067	66359608	68646908	8797	12413											
SPTBN2	6712	broad.mit.edu	37	11	66466163	66466163	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:66466163C>T	ENST00000533211.1	-	20	4292	c.3961G>A	c.(3961-3963)Gca>Aca	p.A1321T	SPTBN2_ENST00000309996.2_Missense_Mutation_p.A1321T|SPTBN2_ENST00000529997.1_Missense_Mutation_p.A1321T			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	1321					actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						GCCATGAATGCCTGGTGCTTC	0.597													26	50					0	0	1	0	0	T	66466163	C	T	66466163	3	4	81	1	0	0	0	0	1	0	0	0	15176	739	26	2	3287	2	SPTBN2	11	66466163	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	106555	66466163	68540353	8798	12414											
SPTBN2	6712	broad.mit.edu	37	11	66472098	66472098	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:66472098G>A	ENST00000533211.1	-	15	2980	c.2649C>T	c.(2647-2649)cgC>cgT	p.R883R	SPTBN2_ENST00000309996.2_Silent_p.R883R|SPTBN2_ENST00000529997.1_Silent_p.R883R			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	883					actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						GGTCCTCCAGGCGTTCAGGCA	0.687													3	11					0	0	1	0	0	A	66472098	G	A	66472098	2	1	81	1	0	0	0	0	0	0	0	1	15176	1190	42	2		2	SPTBN2	11	66472098	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	5935	66472098	68534418	8799	12415											
RCE1	9986	broad.mit.edu	37	11	66612667	66612667	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:66612667G>A	ENST00000309657.3	+	6	694	c.650G>A	c.(649-651)cGt>cAt	p.R217H	RCE1_ENST00000525356.1_Missense_Mutation_p.R94H|RCE1_ENST00000524506.1_Missense_Mutation_p.R217H	NM_001032279.1|NM_005133.2	NP_001027450.1|NP_005124.1	Q9Y256	FACE2_HUMAN	Ras converting CAAX endopeptidase 1	217					proteolysis	endoplasmic reticulum membrane|integral to plasma membrane	metalloendopeptidase activity			breast(2)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	10						GAGCAGCTGCGTTTCCGCCAG	0.537													15	22					0	0	1	0	0	A	66612667	G	A	66612667	3	1	81	1	0	0	0	0	1	0	0	0	13228	1145	40	1	672	1	RCE1	11	66612667	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	140569	66612667	68393849	8800	12416											
LRFN4	78999	broad.mit.edu	37	11	66625589	66625589	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:66625589T>C	ENST00000309602.4	+	1	617	c.374T>C	c.(373-375)cTc>cCc	p.L125P	PC_ENST00000393960.1_Intron|LRFN4_ENST00000393952.3_Missense_Mutation_p.L125P|PC_ENST00000393955.2_Intron|PC_ENST00000393958.2_Intron	NM_024036.4	NP_076941.2	Q6PJG9	LRFN4_HUMAN	leucine rich repeat and fibronectin type III domain containing 4	125						integral to membrane				breast(1)|lung(1)|prostate(1)	3						CTGCAGCACCTCATCCTCAGC	0.662													5	55					0	0	1	0	0	C	66625589	T	C	66625589	3	2	81	1	0	0	0	0	1	0	0	0	8985	1551	54	3	376	3	LRFN4	11	66625589	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	12922	66625589	68380927	8801	12417											
LRFN4	78999	broad.mit.edu	37	11	66625615	66625615	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:66625615C>T	ENST00000309602.4	+	1	643	c.400C>T	c.(400-402)Cgc>Tgc	p.R134C	PC_ENST00000393960.1_Intron|LRFN4_ENST00000393952.3_Missense_Mutation_p.R134C|PC_ENST00000393955.2_Intron|PC_ENST00000393958.2_Intron	NM_024036.4	NP_076941.2	Q6PJG9	LRFN4_HUMAN	leucine rich repeat and fibronectin type III domain containing 4	134						integral to membrane				breast(1)|lung(1)|prostate(1)	3						CCAGCTGGGCCGCATCGCGCC	0.687													24	39					0	0	1	0	0	T	66625615	C	T	66625615	3	4	81	1	0	0	0	0	1	0	0	0	8985	652	23	1	402	1	LRFN4	11	66625615	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	26	66625615	68380901	8802	12418											
LRFN4	78999	broad.mit.edu	37	11	66625626	66625626	+	Silent	SNP	G	G	T	rs138102608		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:66625626G>T	ENST00000309602.4	+	1	654	c.411G>T	c.(409-411)ccG>ccT	p.P137P	PC_ENST00000393960.1_Intron|LRFN4_ENST00000393952.3_Silent_p.P137P|PC_ENST00000393955.2_Intron|PC_ENST00000393958.2_Intron	NM_024036.4	NP_076941.2	Q6PJG9	LRFN4_HUMAN	leucine rich repeat and fibronectin type III domain containing 4	137						integral to membrane				breast(1)|lung(1)|prostate(1)	3						GCATCGCGCCGGGAGCCTTCG	0.692													27	38					4.47668e-21	5.85601e-21	1	1	0	T	66625626	G	T	66625626	2	4	81	1	0	0	0	0	0	0	0	1	8985	1103	39	5		5	LRFN4	11	66625626	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	11	66625626	68380890	8803	12419											
LRFN4	78999	broad.mit.edu	37	11	66626355	66626355	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:66626355G>T	ENST00000309602.4	+	1	1383	c.1140G>T	c.(1138-1140)gaG>gaT	p.E380D	PC_ENST00000393960.1_Intron|LRFN4_ENST00000393952.3_Intron|PC_ENST00000393955.2_Intron|PC_ENST00000393958.2_Intron	NM_024036.4	NP_076941.2	Q6PJG9	LRFN4_HUMAN	leucine rich repeat and fibronectin type III domain containing 4	380						integral to membrane				breast(1)|lung(1)|prostate(1)	3						GCAGTGCCGAGGGGGGCCGCC	0.711													4	6					2.56e-06	2.92664e-06	1	1	0	T	66626355	G	T	66626355	3	4	81	1	0	0	0	0	1	0	0	0	8985	991	35	4	1142	4	LRFN4	11	66626355	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	729	66626355	68380161	8804	12420											
LRFN4	78999	broad.mit.edu	37	11	66626433	66626433	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:66626433G>T	ENST00000309602.4	+	1	1461	c.1218G>T	c.(1216-1218)gaG>gaT	p.E406D	PC_ENST00000393960.1_Intron|LRFN4_ENST00000393952.3_Intron|PC_ENST00000393955.2_Intron|PC_ENST00000393958.2_Intron	NM_024036.4	NP_076941.2	Q6PJG9	LRFN4_HUMAN	leucine rich repeat and fibronectin type III domain containing 4	406						integral to membrane				breast(1)|lung(1)|prostate(1)	3						TGGAGTCTGAGCCAGCCGTGC	0.701													4	36					0.014758	0.0152304	1	1	0	T	66626433	G	T	66626433	3	4	81	1	0	0	0	0	1	0	0	0	8985	962	34	4	1220	4	LRFN4	11	66626433	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	78	66626433	68380083	8805	12421											
KDM2A	22992	broad.mit.edu	37	11	67018104	67018104	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:67018104A>G	ENST00000529006.2	+	17	3049	c.2603A>G	c.(2602-2604)gAc>gGc	p.D868G	KDM2A_ENST00000308783.5_Missense_Mutation_p.D326G|KDM2A_ENST00000398645.2_Intron|KDM2A_ENST00000530342.1_Missense_Mutation_p.D429G|KDM2A_ENST00000526258.1_3'UTR	NM_012308.2	NP_036440.1	Q9Y2K7	KDM2A_HUMAN	lysine (K)-specific demethylase 2A	868					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|urinary_tract(2)	36						gaggaagaTGACAGTGCAGAG	0.652													3	31					0	0	1	0	0	G	67018104	A	G	67018104	3	3	81	1	0	0	0	0	1	0	0	0	8168	275	10	3	2665	3	KDM2A	11	67018104	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	391671	67018104	67988412	8806	12422											
ADRBK1	156	broad.mit.edu	37	11	67047315	67047315	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:67047315C>T	ENST00000308595.5	+	6	737	c.447C>T	c.(445-447)taC>taT	p.Y149Y	ADRBK1_ENST00000526285.1_Silent_p.Y149Y	NM_001619.3	NP_001610.2	P25098	ARBK1_HUMAN	adrenergic, beta, receptor kinase 1	149	N-terminal.|RGS.				activation of phospholipase C activity|cardiac muscle contraction|desensitization of G-protein coupled receptor protein signaling pathway|muscarinic acetylcholine receptor signaling pathway|negative regulation of striated muscle contraction|negative regulation of the force of heart contraction by chemical signal|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of catecholamine secretion|tachykinin receptor signaling pathway	cytosol|soluble fraction	alpha-2A adrenergic receptor binding|ATP binding|beta-adrenergic receptor kinase activity|Edg-2 lysophosphatidic acid receptor binding|G-protein coupled receptor kinase activity|signal transducer activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)	22			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		Adenosine triphosphate(DB00171)	CTTAGCCATACATCGAAGAGA	0.592													21	31					0	0	1	0	0	T	67047315	C	T	67047315	2	4	81	1	0	0	0	0	0	0	0	1	342	489	17	2		2	ADRBK1	11	67047315	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	29211	67047315	67959201	8807	12423											
ADRBK1	156	broad.mit.edu	37	11	67049162	67049162	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:67049162G>A	ENST00000308595.5	+	10	1079	c.789G>A	c.(787-789)acG>acA	p.T263T	ADRBK1_ENST00000526285.1_Silent_p.T263T	NM_001619.3	NP_001610.2	P25098	ARBK1_HUMAN	adrenergic, beta, receptor kinase 1	263	Protein kinase.				activation of phospholipase C activity|cardiac muscle contraction|desensitization of G-protein coupled receptor protein signaling pathway|muscarinic acetylcholine receptor signaling pathway|negative regulation of striated muscle contraction|negative regulation of the force of heart contraction by chemical signal|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of catecholamine secretion|tachykinin receptor signaling pathway	cytosol|soluble fraction	alpha-2A adrenergic receptor binding|ATP binding|beta-adrenergic receptor kinase activity|Edg-2 lysophosphatidic acid receptor binding|G-protein coupled receptor kinase activity|signal transducer activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)	22			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		Adenosine triphosphate(DB00171)	CGTTCCACACGCCAGACAAGC	0.657													26	25					0	0	1	0	0	A	67049162	G	A	67049162	2	1	81	1	0	0	0	0	0	0	0	1	342	1074	38	1		1	ADRBK1	11	67049162	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1847	67049162	67957354	8808	12424											
ADRBK1	156	broad.mit.edu	37	11	67049350	67049350	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:67049350G>A	ENST00000308595.5	+	11	1174	c.884G>A	c.(883-885)cGc>cAc	p.R295H	ADRBK1_ENST00000526285.1_Missense_Mutation_p.R295H|ADRBK1_ENST00000527176.1_3'UTR	NM_001619.3	NP_001610.2	P25098	ARBK1_HUMAN	adrenergic, beta, receptor kinase 1	295	Protein kinase.				activation of phospholipase C activity|cardiac muscle contraction|desensitization of G-protein coupled receptor protein signaling pathway|muscarinic acetylcholine receptor signaling pathway|negative regulation of striated muscle contraction|negative regulation of the force of heart contraction by chemical signal|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of catecholamine secretion|tachykinin receptor signaling pathway	cytosol|soluble fraction	alpha-2A adrenergic receptor binding|ATP binding|beta-adrenergic receptor kinase activity|Edg-2 lysophosphatidic acid receptor binding|G-protein coupled receptor kinase activity|signal transducer activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)	22			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		Adenosine triphosphate(DB00171)	GCTGACATGCGCTTCTATGCG	0.642													30	41					0	0	1	0	0	A	67049350	G	A	67049350	3	1	81	1	0	0	0	0	1	0	0	0	342	1087	38	1	926	1	ADRBK1	11	67049350	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	188	67049350	67957166	8809	12425											
ANKRD13D	338692	broad.mit.edu	37	11	67068588	67068588	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:67068588C>T	ENST00000447274.2	+	11	2115	c.940C>T	c.(940-942)Cgc>Tgc	p.R314C	ANKRD13D_ENST00000308440.6_Missense_Mutation_p.R314C|ANKRD13D_ENST00000511455.2_Missense_Mutation_p.R401C|ANKRD13D_ENST00000514166.1_Missense_Mutation_p.R314C|ANKRD13D_ENST00000515828.1_Missense_Mutation_p.R51C			Q6ZTN6	AN13D_HUMAN	ankyrin repeat domain 13 family, member D	314										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|ovary(1)	9			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			CATCACTCTGCGCCTTCCACC	0.622													14	23					0	0	1	0	0	T	67068588	C	T	67068588	3	4	81	1	0	0	0	0	1	0	0	0	640	768	27	1	1243	1	ANKRD13D	11	67068588	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	19238	67068588	67937928	8810	12426											
SSH3	54961	broad.mit.edu	37	11	67074909	67074910	+	Splice_Site	INS	-	-	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:67074909_67074910insA	ENST00000308127.4	+	6	780		c.e6+2		SSH3_ENST00000376757.5_Splice_Site|SSH3_ENST00000308298.7_Splice_Site|SSH3_ENST00000532181.1_Splice_Site	NM_017857.3	NP_060327.3	Q8TE77	SSH3_HUMAN	slingshot protein phosphatase 3						regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton|nucleus	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			GACCATGTGGTAAGGACAGAGA	0.619													9	19	---	---	---	---						A	67074910	-	A	67074909	8	5	81	1	0	1	1	0	0	0	1	0	15242	1652	57	0	626	0	SSH3	11	67074909	Splice_Site	INS	-	TCGA-DU-6392-01A-11D-1705-08	6321	67074909	67931607	8811	12427											
CLCF1	23529	broad.mit.edu	37	11	67132614	67132614	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:67132614C>T	ENST00000312438.7	-	3	868	c.671G>A	c.(670-672)gGc>gAc	p.G224D	AP003419.11_ENST00000543494.1_RNA|CLCF1_ENST00000533438.1_Missense_Mutation_p.G214D|CLCF1_ENST00000528474.1_Missense_Mutation_p.G214D	NM_013246.2	NP_037378.1	Q9UBD9	CLCF1_HUMAN	cardiotrophin-like cytokine factor 1	224					B cell differentiation|cytokine-mediated signaling pathway|JAK-STAT cascade|negative regulation of neuron apoptosis|positive regulation of astrocyte differentiation|positive regulation of B cell proliferation|positive regulation of immunoglobulin production|positive regulation of isotype switching to IgE isotypes|positive regulation of tyrosine phosphorylation of Stat3 protein	extracellular space	ciliary neurotrophic factor receptor binding|cytokine activity|growth factor activity|protein heterodimerization activity			endometrium(1)|urinary_tract(1)	2			BRCA - Breast invasive adenocarcinoma(15;2.39e-06)			AAGTCAGAAGCCATGAGCCCC	0.597													17	38					0	0	1	0	0	T	67132614	C	T	67132614	3	4	81	1	0	0	0	0	1	0	0	0	3484	739	26	2	10	2	CLCF1	11	67132614	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	57705	67132614	67873902	8812	12428											
PPP1CA	5499	broad.mit.edu	37	11	67166542	67166542	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:67166542A>G	ENST00000376745.4	-	5	764	c.616T>C	c.(616-618)Tgg>Cgg	p.W206R	PPP1CA_ENST00000358239.4_Missense_Mutation_p.W162R|PPP1CA_ENST00000312989.7_Missense_Mutation_p.W217R|PPP1CA_ENST00000532446.1_5'UTR	NM_001008709.1|NM_002708.3	NP_001008709.1|NP_002699.1	P62136	PP1A_HUMAN	protein phosphatase 1, catalytic subunit, alpha isozyme	206					cell cycle|cell division|glycogen metabolic process|protein dephosphorylation|triglyceride catabolic process	cytosol|MLL5-L complex|nucleolus|PTW/PP1 phosphatase complex	metal ion binding|protein binding|protein phosphatase type 1 regulator activity|protein serine/threonine phosphatase activity			breast(1)|lung(2)|pancreas(1)|urinary_tract(3)	7			BRCA - Breast invasive adenocarcinoma(15;8.53e-07)			GGGTCAGACCACAGCAGGTCA	0.632													5	74					0	0	1	0	0	G	67166542	A	G	67166542	3	3	81	1	0	0	0	0	1	0	0	0	12398	159	6	3	388	3	PPP1CA	11	67166542	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	33928	67166542	67839974	8813	12429											
TBC1D10C	374403	broad.mit.edu	37	11	67174430	67174430	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:67174430G>A	ENST00000312390.5	+	8	810	c.781G>A	c.(781-783)Gcc>Acc	p.A261T	TBC1D10C_ENST00000542590.1_Missense_Mutation_p.A261T|TBC1D10C_ENST00000526387.1_Intron	NM_198517.3	NP_940919.1	Q8IV04	TB10C_HUMAN	TBC1 domain family, member 10C	261	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	16			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			GTGCCTCTTCGCCCGCTCCCT	0.687													87	111					0	0	1	0	0	A	67174430	G	A	67174430	3	1	81	1	0	0	0	0	1	0	0	0	15657	1087	38	1	807	1	TBC1D10C	11	67174430	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	7888	67174430	67832086	8814	12430											
TBC1D10C	374403	broad.mit.edu	37	11	67176496	67176496	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:67176496G>A	ENST00000526387.1	+	8	729	c.691G>A	c.(691-693)Gct>Act	p.A231T	TBC1D10C_ENST00000542590.1_Silent_p.A295A|TBC1D10C_ENST00000312390.5_Silent_p.A295A	NM_001256508.1	NP_001243437.1	Q8IV04	TB10C_HUMAN	TBC1 domain family, member 10C	31	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	16			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			TGCGCCTGGCGCTGGGCACTG	0.692													3	3					0	0	1	0	0	A	67176496	G	A	67176496	3	1	81	1	0	0	0	0	1	0	0	0	15657	1074	38	1	915	1	TBC1D10C	11	67176496	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2066	67176496	67830020	8815	12431											
RPS6KB2	6199	broad.mit.edu	37	11	67198887	67198887	+	Missense_Mutation	SNP	C	C	T	rs113335412		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:67198887C>T	ENST00000312629.5	+	5	403	c.358C>T	c.(358-360)Cgg>Tgg	p.R120W	AP003419.16_ENST00000535922.1_RNA|RPS6KB2_ENST00000524814.1_Intron|RPS6KB2_ENST00000539188.1_Missense_Mutation_p.R120W	NM_003952.2	NP_003943.2	Q9UBS0	KS6B2_HUMAN	ribosomal protein S6 kinase, 70kDa, polypeptide 2	120	Protein kinase.				nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of translational initiation|translation	nucleoplasm	ATP binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|salivary_gland(1)|stomach(2)	25			BRCA - Breast invasive adenocarcinoma(15;3.26e-06)			ACGGGCTGAGCGGAACATTCT	0.527													15	33					0	0	1	0	0	T	67198887	C	T	67198887	3	4	81	1	0	0	0	0	1	0	0	0	13709	759	27	1	376	1	RPS6KB2	11	67198887	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	22391	67198887	67807629	8816	12432											
RPS6KB2	6199	broad.mit.edu	37	11	67200096	67200096	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:67200096G>T	ENST00000312629.5	+	6	528	c.483G>T	c.(481-483)gaG>gaT	p.E161D	AP003419.16_ENST00000535922.1_RNA|RPS6KB2_ENST00000524814.1_3'UTR|RPS6KB2_ENST00000539188.1_3'UTR	NM_003952.2	NP_003943.2	Q9UBS0	KS6B2_HUMAN	ribosomal protein S6 kinase, 70kDa, polypeptide 2	161	Protein kinase.				nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of translational initiation|translation	nucleoplasm	ATP binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|salivary_gland(1)|stomach(2)	25			BRCA - Breast invasive adenocarcinoma(15;3.26e-06)			CGCATCTGGAGCGAGAGGGCA	0.567													8	75					5.18039e-06	5.88187e-06	1	1	0	T	67200096	G	T	67200096	3	4	81	1	0	0	0	0	1	0	0	0	13709	962	34	4	505	4	RPS6KB2	11	67200096	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1209	67200096	67806420	8817	12433											
PTPRCAP	5790	broad.mit.edu	37	11	67203585	67203585	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:67203585G>T	ENST00000326294.3	-	2	687	c.240C>A	c.(238-240)cgC>cgA	p.R80R		NM_005608.2	NP_005599.1	Q14761	PTCA_HUMAN	protein tyrosine phosphatase, receptor type, C-associated protein	80					defense response	integral to membrane|plasma membrane				skin(1)|upper_aerodigestive_tract(1)	2			BRCA - Breast invasive adenocarcinoma(15;3.26e-06)			CCCAGAGCAGGCGCCGCGTGC	0.711													6	11					0.00116845	0.00124301	1	1	0	T	67203585	G	T	67203585	2	4	81	1	0	0	0	0	0	0	0	1	12850	1190	42	5		5	PTPRCAP	11	67203585	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	3489	67203585	67802931	8818	12434											
AIP	9049	broad.mit.edu	37	11	67254613	67254613	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:67254613C>T	ENST00000279146.3	+	2	354	c.236C>T	c.(235-237)aCc>aTc	p.T79I		NM_003977.2	NP_003968.2	O00170	AIP_HUMAN	aryl hydrocarbon receptor interacting protein	79	PPIase FKBP-type.				protein maturation by protein folding|protein targeting to mitochondrion	nucleus	signal transducer activity|transcription coactivator activity|transcription factor binding|unfolded protein binding			central_nervous_system(1)|large_intestine(1)|lung(3)|skin(2)	7						ATCGTGTGCACCATGCGAGAA	0.587									Familial Isolated Pituitary Adenoma				42	71					0	0	1	0	0	T	67254613	C	T	67254613	3	4	81	1	0	0	0	0	1	0	0	0	432	507	18	2	242	2	AIP	11	67254613	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	51028	67254613	67751903	8819	12435											
PITPNM1	9600	broad.mit.edu	37	11	67261829	67261829	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:67261829G>A	ENST00000356404.3	-	19	2970	c.2745C>T	c.(2743-2745)aaC>aaT	p.N915N	PITPNM1_ENST00000436757.2_Silent_p.N914N|PITPNM1_ENST00000534749.1_Silent_p.N915N|PITPNM1_ENST00000526450.1_5'UTR	NM_001130848.1|NM_004910.2	NP_001124320.1|NP_004901.2	O00562	PITM1_HUMAN	phosphatidylinositol transfer protein, membrane-associated 1	915					brain development|lipid metabolic process|phototransduction|protein transport	cleavage furrow|endoplasmic reticulum membrane|Golgi cisterna membrane|lipid particle|membrane fraction|midbody	metal ion binding|phosphatidylinositol transporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3)	18						TGGAAGTGACGTTCTAGAGGG	0.682													10	7					0	0	1	0	0	A	67261829	G	A	67261829	2	1	81	1	0	0	0	0	0	0	0	1	11998	1136	40	1		1	PITPNM1	11	67261829	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	7216	67261829	67744687	8820	12436											
PITPNM1	9600	broad.mit.edu	37	11	67267648	67267649	+	Frame_Shift_Ins	INS	-	-	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:67267648_67267649insG	ENST00000356404.3	-	6	1109_1110	c.884_885insC	c.(883-885)ccafs	p.P295fs	PITPNM1_ENST00000534749.1_Frame_Shift_Ins_p.P295fs|PITPNM1_ENST00000436757.2_Frame_Shift_Ins_p.P295fs	NM_001130848.1|NM_004910.2	NP_001124320.1|NP_004901.2	O00562	PITM1_HUMAN	phosphatidylinositol transfer protein, membrane-associated 1	295					brain development|lipid metabolic process|phototransduction|protein transport	cleavage furrow|endoplasmic reticulum membrane|Golgi cisterna membrane|lipid particle|membrane fraction|midbody	metal ion binding|phosphatidylinositol transporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3)	18						CATCTGGGCCTGGGGGGGCCTC	0.693													16	52	---	---	---	---						G	67267649	-	G	67267648	7	5	81	1	0	1	1	0	0	0	0	0	11998	1567	55	0	2925	0	PITPNM1	11	67267648	Frame_Shift_Ins	INS	-	TCGA-DU-6392-01A-11D-1705-08	5819	67267648	67738868	8821	12437											
PITPNM1	9600	broad.mit.edu	37	11	67267735	67267735	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:67267735G>A	ENST00000356404.3	-	6	1023	c.798C>T	c.(796-798)tcC>tcT	p.S266S	PITPNM1_ENST00000436757.2_Silent_p.S266S|PITPNM1_ENST00000534749.1_Silent_p.S266S	NM_001130848.1|NM_004910.2	NP_001124320.1|NP_004901.2	O00562	PITM1_HUMAN	phosphatidylinositol transfer protein, membrane-associated 1	266					brain development|lipid metabolic process|phototransduction|protein transport	cleavage furrow|endoplasmic reticulum membrane|Golgi cisterna membrane|lipid particle|membrane fraction|midbody	metal ion binding|phosphatidylinositol transporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3)	18						GCTGGGCCTCGGACCCCTCAC	0.692													25	37					0	0	1	0	0	A	67267735	G	A	67267735	2	1	81	1	0	0	0	0	0	0	0	1	11998	1103	39	1		1	PITPNM1	11	67267735	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	87	67267735	67738781	8822	12438											
CABP2	51475	broad.mit.edu	37	11	67287408	67287408	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:67287408C>T	ENST00000294288.4	-	6	562	c.493G>A	c.(493-495)Gac>Aac	p.D165N	CABP2_ENST00000353903.5_Missense_Mutation_p.D108N	NM_016366.2	NP_057450.2	Q9NPB3	CABP2_HUMAN	calcium binding protein 2	165	EF-hand 3.				signal transduction	Golgi apparatus|perinuclear region of cytoplasm|plasma membrane	calcium ion binding			endometrium(2)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	9						CCATTGGTGTCGAACTGTGGC	0.692													9	5					0	0	1	0	0	T	67287408	C	T	67287408	3	4	81	1	0	0	0	0	1	0	0	0	2550	884	31	1	177	1	CABP2	11	67287408	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	19673	67287408	67719108	8823	12439											
NDUFV1	4723	broad.mit.edu	37	11	67376950	67376950	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:67376950C>T	ENST00000322776.6	+	4	507	c.354C>T	c.(352-354)gaC>gaT	p.D118D	NDUFV1_ENST00000532303.1_Silent_p.D17D|NDUFV1_ENST00000415352.2_Silent_p.D111D|NDUFV1_ENST00000526169.1_3'UTR|NDUFV1_ENST00000529927.1_Silent_p.D109D	NM_001166102.1|NM_007103.3	NP_001159574.1|NP_009034.2	P49821	NDUV1_HUMAN	NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa	118					mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I	4 iron, 4 sulfur cluster binding|FMN binding|metal ion binding|NAD binding|NADH dehydrogenase (ubiquinone) activity			breast(1)|endometrium(3)|large_intestine(2)|lung(7)|prostate(1)|skin(2)	16					NADH(DB00157)	TGAACGCAGACGAGGGGGAGC	0.657													49	82					0	0	1	0	0	T	67376950	C	T	67376950	2	4	81	1	0	0	0	0	0	0	0	1	10346	535	19	1		1	NDUFV1	11	67376950	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	89542	67376950	67629566	8824	12440											
NDUFV1	4723	broad.mit.edu	37	11	67377969	67377969	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:67377969A>G	ENST00000322776.6	+	5	781	c.628A>G	c.(628-630)Aca>Gca	p.T210A	NDUFV1_ENST00000532303.1_Missense_Mutation_p.T109A|NDUFV1_ENST00000415352.2_Missense_Mutation_p.T203A|NDUFV1_ENST00000526169.1_3'UTR|NDUFV1_ENST00000529927.1_Missense_Mutation_p.T201A	NM_001166102.1|NM_007103.3	NP_001159574.1|NP_009034.2	P49821	NDUV1_HUMAN	NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa	210					mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I	4 iron, 4 sulfur cluster binding|FMN binding|metal ion binding|NAD binding|NADH dehydrogenase (ubiquinone) activity			breast(1)|endometrium(3)|large_intestine(2)|lung(7)|prostate(1)|skin(2)	16					NADH(DB00157)	TGGAGAGGAGACAGCGCTCAT	0.602													31	56					0	0	1	0	0	G	67377969	A	G	67377969	3	3	81	1	0	0	0	0	1	0	0	0	10346	275	10	3	646	3	NDUFV1	11	67377969	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	1019	67377969	67628547	8825	12441											
NDUFV1	4723	broad.mit.edu	37	11	67379590	67379590	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:67379590G>T	ENST00000322776.6	+	9	1315		c.e9-1		NDUFV1_ENST00000532303.1_Splice_Site|NDUFV1_ENST00000415352.2_Splice_Site|NDUFV1_ENST00000529927.1_Splice_Site	NM_001166102.1|NM_007103.3	NP_001159574.1|NP_009034.2	P49821	NDUV1_HUMAN	NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa						mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I	4 iron, 4 sulfur cluster binding|FMN binding|metal ion binding|NAD binding|NADH dehydrogenase (ubiquinone) activity			breast(1)|endometrium(3)|large_intestine(2)|lung(7)|prostate(1)|skin(2)	16					NADH(DB00157)	TGTGGCTGCAGGTGTGGACTG	0.622													14	53					0.0242445	0.0248788	1	1	0	T	67379590	G	T	67379590	5	4	81	1	0	0	0	0	0	0	1	0	10346	1014	35	4	1196	4	NDUFV1	11	67379590	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1621	67379590	67626926	8826	12442											
TBX10	347853	broad.mit.edu	37	11	67402558	67402558	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:67402558C>T	ENST00000335385.3	-	2	271	c.184G>A	c.(184-186)Gtg>Atg	p.V62M		NM_005995.4	NP_005986.2	O75333	TBX10_HUMAN	T-box 10	62					anatomical structure morphogenesis|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|lung(4)|ovary(1)	7						ACTCTGGACACACGTGGGTTC	0.622													24	31					0	0	1	0	0	T	67402558	C	T	67402558	3	4	81	1	0	0	0	0	1	0	0	0	15711	478	17	2	1001	2	TBX10	11	67402558	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	22968	67402558	67603958	8827	12443											
ALDH3B2	222	broad.mit.edu	37	11	67430845	67430845	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:67430845G>A	ENST00000349015.3	-	10	1437	c.999C>T	c.(997-999)caC>caT	p.H333H	ALDH3B2_ENST00000530069.1_Silent_p.H333H	NM_000695.3	NP_000686	P48448	AL3B2_HUMAN	aldehyde dehydrogenase 3 family, member B2	333					alcohol metabolic process|cellular aldehyde metabolic process|lipid metabolic process		3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1)	18					NADH(DB00157)	TGAACTTGCCGTGGTACCGGC	0.647													5	20					0	0	1	0	0	A	67430845	G	A	67430845	2	1	81	1	0	0	0	0	0	0	0	1	497	1136	40	1		1	ALDH3B2	11	67430845	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	28287	67430845	67575671	8828	12444											
NDUFS8	4728	broad.mit.edu	37	11	67803831	67803831	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:67803831G>A	ENST00000313468.5	+	6	591	c.484G>A	c.(484-486)Gtg>Atg	p.V162M	NDUFS8_ENST00000528492.1_Missense_Mutation_p.V16M	NM_002496.3	NP_002487.1	O00217	NDUS8_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 8, 23kDa (NADH-coenzyme Q reductase)	162	4Fe-4S ferredoxin-type 2.				mitochondrial electron transport, NADH to ubiquinone|mitochondrial respiratory chain complex I assembly|response to oxidative stress|transport	mitochondrial respiratory chain complex I	4 iron, 4 sulfur cluster binding|electron carrier activity|metal ion binding|NADH dehydrogenase (ubiquinone) activity			endometrium(1)|kidney(1)|lung(5)|skin(1)	8					NADH(DB00157)	GGCCTGTCCCGTGGATGCCAT	0.667													9	20					0	0	1	0	0	A	67803831	G	A	67803831	3	1	81	1	0	0	0	0	1	0	0	0	10345	1145	40	1	502	1	NDUFS8	11	67803831	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	372986	67803831	67202685	8829	12445											
SUV420H1	51111	broad.mit.edu	37	11	67939085	67939085	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:67939085C>T	ENST00000304363.4	-	7	1098	c.745G>A	c.(745-747)Gac>Aac	p.D249N	SUV420H1_ENST00000405515.1_Missense_Mutation_p.D249N|SUV420H1_ENST00000402789.1_Missense_Mutation_p.D249N|SUV420H1_ENST00000402185.2_Missense_Mutation_p.D226N|SUV420H1_ENST00000401547.2_Missense_Mutation_p.D249N	NM_017635.3	NP_060105	Q4FZB7	SV421_HUMAN	suppressor of variegation 4-20 homolog 1 (Drosophila)	249	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	p.D249N(1)		NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						ACACTGAAGTCGTTTTCTCCA	0.413													5	60					0	0	1	0	0	T	67939085	C	T	67939085	3	4	81	1	0	0	0	0	1	0	0	0	15470	884	31	1	1940	1	SUV420H1	11	67939085	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	135254	67939085	67067431	8830	12446											
C11orf24	53838	broad.mit.edu	37	11	68029758	68029758	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:68029758C>T	ENST00000304271.6	-	4	1107	c.705G>A	c.(703-705)aaG>aaA	p.K235K	C11orf24_ENST00000533310.1_Intron	NM_022338.3	NP_071733.1	Q96F05	CK024_HUMAN	chromosome 11 open reading frame 24	235	Pro-rich.					integral to membrane				endometrium(3)|kidney(3)|large_intestine(3)|lung(3)|ovary(1)	13						TGGGCATGTGCTTGGAAGGAC	0.582													31	75					0	0	1	0	0	T	68029758	C	T	68029758	2	4	81	1	0	0	0	0	0	0	0	1	1640	796	28	2		2	C11orf24	11	68029758	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	90673	68029758	66976758	8831	12447											
LRP5	4041	broad.mit.edu	37	11	68133048	68133048	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:68133048G>A	ENST00000294304.7	+	5	999	c.893G>A	c.(892-894)cGc>cAc	p.R298H		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	298	EGF-like 1.				adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GTCCACACTCGCTGTGAGGAG	0.592													69	96					0	0	1	0	0	A	68133048	G	A	68133048	3	1	81	1	0	0	0	0	1	0	0	0	9005	1087	38	1	911	1	LRP5	11	68133048	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	103290	68133048	66873468	8832	12448											
LRP5	4041	broad.mit.edu	37	11	68157500	68157500	+	Missense_Mutation	SNP	G	G	A	rs80358309		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:68157500G>A	ENST00000294304.7	+	7	1670	c.1564G>A	c.(1564-1566)Gcc>Acc	p.A522T		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	522	Beta-propeller 2.		A -> T (in EVR4).		adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CTGGGGAGACGCCAAGACAGA	0.642													14	20					0	0	1	0	0	A	68157500	G	A	68157500	3	1	81	1	0	0	0	0	1	0	0	0	9005	1087	38	1	1590	1	LRP5	11	68157500	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	24452	68157500	66849016	8833	12449											
LRP5	4041	broad.mit.edu	37	11	68193472	68193472	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:68193472G>A	ENST00000294304.7	+	16	3560	c.3454G>A	c.(3454-3456)Gcc>Acc	p.A1152T		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	1152	Beta-propeller 4.				adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CCTGGAGGACGCCAACATCGT	0.637													29	38					0	0	1	0	0	A	68193472	G	A	68193472	3	1	81	1	0	0	0	0	1	0	0	0	9005	1087	38	1	3516	1	LRP5	11	68193472	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	35972	68193472	66813044	8834	12450											
LRP5	4041	broad.mit.edu	37	11	68216504	68216504	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:68216504C>T	ENST00000294304.7	+	23	4920	c.4814C>T	c.(4813-4815)cCg>cTg	p.P1605L	LRP5_ENST00000529481.1_3'UTR	NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	1605	Pro-rich.				adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CATCTCTTCCCGCCCCCTCCG	0.617													20	31					0	0	1	0	0	T	68216504	C	T	68216504	3	4	81	1	0	0	0	0	1	0	0	0	9005	652	23	1	4904	1	LRP5	11	68216504	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	23032	68216504	66790012	8835	12451											
GAL	51083	broad.mit.edu	37	11	68453074	68453074	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:68453074C>T	ENST00000265643.3	+	3	352	c.94C>T	c.(94-96)Cga>Tga	p.R32*		NM_015973.3	NP_057057.2	P22466	GALA_HUMAN	galanin/GMAP prepropeptide	32					growth hormone secretion|insulin secretion|neuropeptide signaling pathway|smooth muscle contraction	extracellular region	neuropeptide hormone activity			lung(4)	4	Esophageal squamous(3;7.33e-10)	Melanoma(852;0.0749)	LUAD - Lung adenocarcinoma(13;0.0514)	Kidney(183;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(183;3.23e-08)|Lung(977;0.000152)|LUSC - Lung squamous cell carcinoma(976;0.00154)		CAAGGAAAAACGAGGCTGGAC	0.612													8	13					0	0	1	0	0	T	68453074	C	T	68453074	4	4	81	1	0	0	0	0	0	1	0	0	6236	528	19	1	100	1	GAL	11	68453074	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	236570	68453074	66553442	8836	12452											
MTL5	9633	broad.mit.edu	37	11	68514826	68514826	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:68514826G>T	ENST00000443940.2	-	3	566	c.480C>A	c.(478-480)atC>atA	p.I160I	MTL5_ENST00000544963.1_Silent_p.I160I|MTL5_ENST00000540869.1_5'UTR|MTL5_ENST00000255087.5_Silent_p.I160I			Q9Y4I5	MTL5_HUMAN	metallothionein-like 5, testis-specific (tesmin)	160					cell differentiation|cellular metal ion homeostasis|multicellular organismal development|response to metal ion|spermatogenesis	cytoplasm|nucleus|soluble fraction	metal ion binding			breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	15	Esophageal squamous(3;4.37e-12)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.185)			CTGCTTCCTTGATTTCAACCT	0.393													6	57					3.59834e-05	3.99423e-05	1	1	0	T	68514826	G	T	68514826	2	4	81	1	0	0	0	0	0	0	0	1	9984	1280	45	5		5	MTL5	11	68514826	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	61752	68514826	66491690	8837	12453											
CPT1A	1374	broad.mit.edu	37	11	68540734	68540734	+	Splice_Site	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:68540734T>C	ENST00000265641.5	-	14	1893	c.1739A>G	c.(1738-1740)aAg>aGg	p.K580R	CPT1A_ENST00000540367.1_Splice_Site_p.K580R|CPT1A_ENST00000539743.1_Splice_Site_p.K580R|CPT1A_ENST00000537756.2_5'UTR|CPT1A_ENST00000376618.2_Splice_Site_p.K580R	NM_001876.3	NP_001867.2	P50416	CPT1A_HUMAN	carnitine palmitoyltransferase 1A (liver)	580					carnitine shuttle|fatty acid beta-oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	Esophageal squamous(3;3.28e-14)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)		L-Carnitine(DB00583)|Perhexiline(DB01074)	AGTTCTTACCTTGTAGTGCGC	0.562													21	16					0	0	1	0	0	C	68540734	T	C	68540734	5	2	81	1	0	0	0	0	0	0	1	0	3854	1623	56	3	646	3	CPT1A	11	68540734	Splice_Site	SNP	T	TCGA-DU-6392-01A-11D-1705-08	25908	68540734	66465782	8838	12454											
MRPL21	219927	broad.mit.edu	37	11	68660895	68660895	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:68660895G>A	ENST00000567045.1	-	5	405	c.170C>T	c.(169-171)aCg>aTg	p.T57M	MRPL21_ENST00000362034.2_Missense_Mutation_p.T142M|MRPL21_ENST00000450904.2_Missense_Mutation_p.T57M			Q7Z2W9	RM21_HUMAN	mitochondrial ribosomal protein L21	142					translation	mitochondrion|ribosome	RNA binding|structural constituent of ribosome	p.T142M(1)		large_intestine(1)|lung(6)|prostate(1)	8			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			GCCAAGCAGCGTGAAGTTGTC	0.507													4	20					0	0	1	0	0	A	68660895	G	A	68660895	3	1	81	1	0	0	0	0	1	0	0	0	9836	1145	40	1	204	1	MRPL21	11	68660895	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	120161	68660895	66345621	8839	12455											
IGHMBP2	3508	broad.mit.edu	37	11	68705683	68705683	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:68705683A>G	ENST00000255078.3	+	14	2756	c.2645A>G	c.(2644-2646)gAc>gGc	p.D882G		NM_002180.2	NP_002171.2	P38935	SMBP2_HUMAN	immunoglobulin mu binding protein 2	882					cell death|DNA recombination|DNA repair|DNA replication|protein homooligomerization|transcription, DNA-dependent|translation	axon|growth cone|nucleus|ribonucleoprotein complex	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' RNA helicase activity|ribosome binding|single-stranded DNA binding|transcription factor binding|tRNA binding|zinc ion binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|liver(1)|lung(15)|ovary(2)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			ACGGAGGAGGACTTTGAGGCC	0.582													21	60					0	0	1	0	0	G	68705683	A	G	68705683	3	3	81	1	0	0	0	0	1	0	0	0	7635	275	10	3	2699	3	IGHMBP2	11	68705683	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	44788	68705683	66300833	8840	12456											
MRGPRD	116512	broad.mit.edu	37	11	68747524	68747524	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:68747524G>A	ENST00000309106.3	-	1	931	c.932C>T	c.(931-933)aCg>aTg	p.T311M		NM_198923.2	NP_944605.2	Q8TDS7	MRGRD_HUMAN	MAS-related GPR, member D	311						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2)	22			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			CACGGTGGGCGTCTCCCCACC	0.687													29	54					0	0	1	0	0	A	68747524	G	A	68747524	3	1	81	1	0	0	0	0	1	0	0	0	9812	1145	40	1	36	1	MRGPRD	11	68747524	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	41841	68747524	66258992	8841	12457											
TPCN2	219931	broad.mit.edu	37	11	68837924	68837924	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:68837924C>T	ENST00000294309.3	+	9	957	c.856C>T	c.(856-858)Cgg>Tgg	p.R286W	TPCN2_ENST00000442692.2_3'UTR|TPCN2_ENST00000542467.1_Missense_Mutation_p.R286W	NM_139075.3	NP_620714.2	Q8NHX9	TPC2_HUMAN	two pore segment channel 2	286					cellular calcium ion homeostasis|smooth muscle contraction	endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated calcium channel activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	32			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			TTCCAAGAACCGGGCCTATGC	0.468													25	57					0	0	1	0	0	T	68837924	C	T	68837924	3	4	81	1	0	0	0	0	1	0	0	0	16457	643	23	1	890	1	TPCN2	11	68837924	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	90400	68837924	66168592	8842	12458											
TPCN2	219931	broad.mit.edu	37	11	68855400	68855400	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:68855400G>A	ENST00000294309.3	+	25	2339	c.2238G>A	c.(2236-2238)ccG>ccA	p.P746P	TPCN2_ENST00000442692.2_3'UTR|TPCN2_ENST00000542467.1_Silent_p.P564P	NM_139075.3	NP_620714.2	Q8NHX9	TPC2_HUMAN	two pore segment channel 2	746					cellular calcium ion homeostasis|smooth muscle contraction	endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated calcium channel activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	32			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			GCCAGCACCCGCACCTGTGGC	0.642													9	12					0	0	1	0	0	A	68855400	G	A	68855400	2	1	81	1	0	0	0	0	0	0	0	1	16457	1074	38	1		1	TPCN2	11	68855400	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	17476	68855400	66151116	8843	12459											
MYEOV	26579	broad.mit.edu	37	11	69063719	69063719	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:69063719G>A	ENST00000535407.1	+	2	1271	c.628G>A	c.(628-630)Gcc>Acc	p.A210T	MYEOV_ENST00000441339.2_Missense_Mutation_p.A268T|MYEOV_ENST00000308946.3_Missense_Mutation_p.A268T			Q96EZ4	MYEOV_HUMAN	myeloma overexpressed	268										endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|urinary_tract(1)	24	all_lung(4;2.21e-19)|Lung NSC(4;6.13e-19)|Melanoma(5;0.00128)		LUSC - Lung squamous cell carcinoma(11;3.33e-11)|STAD - Stomach adenocarcinoma(18;0.00654)|LUAD - Lung adenocarcinoma(13;0.0713)	Kidney(183;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(183;3.23e-08)|Lung(977;0.00361)|LUSC - Lung squamous cell carcinoma(976;0.0153)		GACTGTTGAGGCCCTGGGGGG	0.672													13	13					0	0	1	0	0	A	69063719	G	A	69063719	3	1	81	1	0	0	0	0	1	0	0	0	10073	1203	42	2	808	2	MYEOV	11	69063719	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	208319	69063719	65942797	8844	12460											
CCND1	595	broad.mit.edu	37	11	69457922	69457922	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:69457922T>C	ENST00000227507.2	+	2	549	c.322T>C	c.(322-324)Ttc>Ctc	p.F108L	CCND1_ENST00000536559.1_Intron	NM_053056.2	NP_444284.1	P24385	CCND1_HUMAN	cyclin D1	108	Cyclin N-terminal.				cell division|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|mitotic cell cycle G1/S transition DNA damage checkpoint|positive regulation of cyclin-dependent protein kinase activity|positive regulation of protein phosphorylation|response to drug|response to UV-A|S phase of mitotic cell cycle	cyclin-dependent protein kinase holoenzyme complex|cytosol|membrane|nucleoplasm	protein kinase binding			NS(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|ovary(1)|urinary_tract(1)	23	all_cancers(3;2.01e-114)|all_epithelial(3;3.59e-122)|Breast(3;5.4e-34)|all_lung(4;1.99e-21)|Lung NSC(4;4.65e-21)|Hepatocellular(3;8.22e-16)|Melanoma(5;1.89e-05)|Ovarian(3;0.0348)		Epithelial(3;7.2e-57)|all cancers(3;7.75e-51)|BRCA - Breast invasive adenocarcinoma(2;4.9e-48)|Lung(3;1.13e-16)|LUSC - Lung squamous cell carcinoma(11;3.74e-15)|STAD - Stomach adenocarcinoma(18;0.0278)|LUAD - Lung adenocarcinoma(13;0.0537)		Arsenic trioxide(DB01169)	CACTTGCATGTTCGTGGCCTC	0.617			T	"IGH@, FSTL3"	"CLL, B-ALL, breast"					Multiple Myeloma(6;0.086)			4	13					0	0	1	0	0	C	69457922	T	C	69457922	3	2	81	1	0	0	0	0	1	0	0	0	2938	1725	60	3	328	3	CCND1	11	69457922	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	394203	69457922	65548594	8845	12461											
ANO1	55107	broad.mit.edu	37	11	69951859	69951859	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:69951859G>A	ENST00000355303.5	+	5	1017	c.712G>A	c.(712-714)Gat>Aat	p.D238N	ANO1_ENST00000530676.1_Missense_Mutation_p.D122N|ANO1_ENST00000538023.1_Missense_Mutation_p.D238N|ANO1_ENST00000398543.2_Missense_Mutation_p.D122N|ANO1_ENST00000316296.5_Missense_Mutation_p.D210N	NM_018043.5	NP_060513.5	Q5XXA6	ANO1_HUMAN	anoctamin 1, calcium activated chloride channel	238					multicellular organismal development	chloride channel complex|cytoplasm|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29						GTCTGATAAGGATTCCTTTTT	0.502													5	39					0	0	1	0	0	A	69951859	G	A	69951859	3	1	81	1	0	0	0	0	1	0	0	0	689	1174	41	2	730	2	ANO1	11	69951859	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	493937	69951859	65054657	8846	12462											
ANO1	55107	broad.mit.edu	37	11	70017073	70017073	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:70017073G>A	ENST00000355303.5	+	22	2583	c.2278G>A	c.(2278-2280)Gag>Aag	p.E760K	ANO1_ENST00000530676.1_Missense_Mutation_p.E614K|ANO1_ENST00000538023.1_Missense_Mutation_p.E760K|ANO1_ENST00000531349.1_Missense_Mutation_p.E469K|ANO1_ENST00000525494.1_3'UTR|ANO1_ENST00000398543.2_Missense_Mutation_p.E614K	NM_018043.5	NP_060513.5	Q5XXA6	ANO1_HUMAN	anoctamin 1, calcium activated chloride channel	760					multicellular organismal development	chloride channel complex|cytoplasm|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29						CAACATCATCGAGATCCGCCT	0.592													6	9					0	0	1	0	0	A	70017073	G	A	70017073	3	1	81	1	0	0	0	0	1	0	0	0	689	1059	37	1	2364	1	ANO1	11	70017073	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	65214	70017073	64989443	8847	12463											
PPFIA1	8500	broad.mit.edu	37	11	70171029	70171029	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:70171029C>T	ENST00000253925.7	+	4	658	c.443C>T	c.(442-444)gCg>gTg	p.A148V	CTA-797E19.2_ENST00000526017.1_RNA|AP000487.6_ENST00000528607.1_RNA|PPFIA1_ENST00000389547.3_Missense_Mutation_p.A148V	NM_003626.3	NP_003617.1	Q13136	LIPA1_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1	148					cell-matrix adhesion	cytoplasm	protein binding|signal transducer activity			breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			AAGAGACAAGCGCAGTCTCCA	0.493													66	126					0	0	1	0	0	T	70171029	C	T	70171029	3	4	81	1	0	0	0	0	1	0	0	0	12354	768	27	1	453	1	PPFIA1	11	70171029	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	153956	70171029	64835487	8848	12464											
PPFIA1	8500	broad.mit.edu	37	11	70172385	70172385	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:70172385A>G	ENST00000253925.7	+	6	839	c.624A>G	c.(622-624)gaA>gaG	p.E208E	CTA-797E19.2_ENST00000526017.1_RNA|AP000487.6_ENST00000528607.1_RNA|PPFIA1_ENST00000389547.3_Silent_p.E208E	NM_003626.3	NP_003617.1	Q13136	LIPA1_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1	208					cell-matrix adhesion	cytoplasm	protein binding|signal transducer activity			breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			TTCTTAAAGAACAGAATAATC	0.328													9	17					0	0	1	0	0	G	70172385	A	G	70172385	2	3	81	1	0	0	0	0	0	0	0	1	12354	40	2	3		3	PPFIA1	11	70172385	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	1356	70172385	64834131	8849	12465											
CTTN	2017	broad.mit.edu	37	11	70275272	70275272	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:70275272G>A	ENST00000346329.3	+	13	1340	c.1032G>A	c.(1030-1032)cgG>cgA	p.R344R	CTTN_ENST00000538675.1_Silent_p.R65R|CTTN_ENST00000301843.8_Silent_p.R381R|CTTN_ENST00000376561.3_Silent_p.R344R	NM_138565.2	NP_612632.1	Q14247	SRC8_HUMAN	cortactin	381						cell cortex|cytoskeleton|lamellipodium|ruffle|soluble fraction	protein binding			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	31			BRCA - Breast invasive adenocarcinoma(2;4.34e-41)|LUSC - Lung squamous cell carcinoma(11;1.51e-13)|STAD - Stomach adenocarcinoma(18;0.0513)	Lung(977;0.0234)|LUSC - Lung squamous cell carcinoma(976;0.133)		CCAAGGAGCGGCAGGAGCAGG	0.627													5	28					0	0	1	0	0	A	70275272	G	A	70275272	2	1	81	1	0	0	0	0	0	0	0	1	4068	1190	42	2		2	CTTN	11	70275272	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	102887	70275272	64731244	8850	12466											
SHANK2	22941	broad.mit.edu	37	11	70319000	70319000	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:70319000C>T	ENST00000338508.4	-	33	5526	c.5527G>A	c.(5527-5529)Gct>Act	p.A1843T	SHANK2_ENST00000409161.1_Missense_Mutation_p.A1246T|SHANK2_ENST00000449833.2_Missense_Mutation_p.A1247T|SHANK2_ENST00000423696.2_Missense_Mutation_p.A1463T			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	1463					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			TGTTTCAAAGCCCTTTCTATG	0.502													36	101					0	0	1	0	0	T	70319000	C	T	70319000	3	4	81	1	0	0	0	0	1	0	0	0	14320	739	26	2	29	2	SHANK2	11	70319000	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	43728	70319000	64687516	8851	12467											
SHANK2	22941	broad.mit.edu	37	11	70319333	70319333	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:70319333C>T	ENST00000338508.4	-	33	5193	c.5194G>A	c.(5194-5196)Gcc>Acc	p.A1732T	SHANK2_ENST00000409161.1_Missense_Mutation_p.A1135T|SHANK2_ENST00000449833.2_Missense_Mutation_p.A1136T|SHANK2_ENST00000423696.2_Missense_Mutation_p.A1352T			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	1352					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			GAAGGAGAGGCGGTGGCAGCA	0.602													35	56					0	0	1	0	0	T	70319333	C	T	70319333	3	4	81	1	0	0	0	0	1	0	0	0	14320	768	27	1	362	1	SHANK2	11	70319333	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	333	70319333	64687183	8852	12468											
SHANK2	22941	broad.mit.edu	37	11	70331536	70331536	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:70331536G>A	ENST00000338508.4	-	32	4864	c.4865C>T	c.(4864-4866)gCa>gTa	p.A1622V	SHANK2_ENST00000409161.1_Missense_Mutation_p.A1025V|SHANK2_ENST00000449833.2_Missense_Mutation_p.A1026V|SHANK2_ENST00000423696.2_Missense_Mutation_p.A1242V			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	1242					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			AATAACGTTTGCCTTTGGGCC	0.527													30	49					0	0	1	0	0	A	70331536	G	A	70331536	3	1	81	1	0	0	0	0	1	0	0	0	14320	1319	46	2	695	2	SHANK2	11	70331536	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	12203	70331536	64674980	8853	12469											
SHANK2	22941	broad.mit.edu	37	11	70333218	70333218	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:70333218C>T	ENST00000338508.4	-	32	3182	c.3183G>A	c.(3181-3183)ccG>ccA	p.P1061P	SHANK2_ENST00000409161.1_Silent_p.P464P|SHANK2_ENST00000449833.2_Silent_p.P465P|SHANK2_ENST00000423696.2_Silent_p.P681P			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	681					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			TCGGTGGCTCCGGGGCCTGGG	0.692													21	36					0	0	1	0	0	T	70333218	C	T	70333218	2	4	81	1	0	0	0	0	0	0	0	1	14320	639	23	1		1	SHANK2	11	70333218	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1682	70333218	64673298	8854	12470											
SHANK2	22941	broad.mit.edu	37	11	70507832	70507832	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:70507832A>G	ENST00000449833.2	-	1	91	c.41T>C	c.(40-42)aTg>aCg	p.M14T	SHANK2_ENST00000409530.1_Missense_Mutation_p.M13T|SHANK2_ENST00000409161.1_Missense_Mutation_p.M13T|SHANK2_ENST00000338508.4_Intron|SHANK2_ENST00000423696.2_Intron|SHANK2_ENST00000449116.2_Missense_Mutation_p.M14T|SHANK2_ENST00000357171.3_Missense_Mutation_p.M14T	NM_133266.3	NP_573573.2	Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	0					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			GCCCGTCATCATCACCGCGGC	0.547													36	83					0	0	1	0	0	G	70507832	A	G	70507832	3	3	81	1	0	0	0	0	1	0	0	0	14320	217	8	3	3788	3	SHANK2	11	70507832	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	174614	70507832	64498684	8855	12471											
DHCR7	1717	broad.mit.edu	37	11	71152283	71152283	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:71152283C>T	ENST00000355527.3	-	6	892	c.616G>A	c.(616-618)Gcc>Acc	p.A206T	DHCR7_ENST00000407721.2_Missense_Mutation_p.A206T	NM_001163817.1|NM_001360.2	NP_001157289.1|NP_001351.2	Q9UBM7	DHCR7_HUMAN	7-dehydrocholesterol reductase	206					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|nuclear outer membrane	7-dehydrocholesterol reductase activity|protein binding	p.A206T(2)		endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(1)|skin(1)	19					NADH(DB00157)	CAGTCTCTGGCGCTGGTGGGG	0.562									Smith-Lemli-Opitz syndrome				16	32					0	0	1	0	0	T	71152283	C	T	71152283	3	4	81	1	0	0	0	0	1	0	0	0	4505	768	27	1	827	1	DHCR7	11	71152283	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	644451	71152283	63854233	8856	12472											
DHCR7	1717	broad.mit.edu	37	11	71155082	71155082	+	Missense_Mutation	SNP	G	G	A	rs80338853		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:71155082G>A	ENST00000355527.3	-	4	554	c.278C>T	c.(277-279)aCg>aTg	p.T93M	DHCR7_ENST00000407721.2_Missense_Mutation_p.T93M	NM_001163817.1|NM_001360.2	NP_001157289.1|NP_001351.2	Q9UBM7	DHCR7_HUMAN	7-dehydrocholesterol reductase	93			T -> M (in SLOS).		cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|nuclear outer membrane	7-dehydrocholesterol reductase activity|protein binding			endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(1)|skin(1)	19					NADH(DB00157)	GGCTTTCCTCGTTATAGGTGG	0.632									Smith-Lemli-Opitz syndrome				5	16					0	0	1	0	0	A	71155082	G	A	71155082	3	1	81	1	0	0	0	0	1	0	0	0	4505	1145	40	1	1173	1	DHCR7	11	71155082	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2799	71155082	63851434	8857	12473											
NADSYN1	55191	broad.mit.edu	37	11	71169509	71169509	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:71169509A>G	ENST00000319023.2	+	3	370	c.182A>G	c.(181-183)gAc>gGc	p.D61G		NM_018161.4	NP_060631.2	Q6IA69	NADE_HUMAN	NAD synthetase 1	61	CN hydrolase.				NAD biosynthetic process|water-soluble vitamin metabolic process	cytosol	ATP binding|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds|NAD+ synthase (glutamine-hydrolyzing) activity|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	25					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	TACGAGTCGGACACCCTCTTG	0.572													7	92					0	0	1	0	0	G	71169509	A	G	71169509	3	3	81	1	0	0	0	0	1	0	0	0	10186	275	10	3	192	3	NADSYN1	11	71169509	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	14427	71169509	63837007	8858	12474											
NADSYN1	55191	broad.mit.edu	37	11	71209551	71209551	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:71209551C>T	ENST00000319023.2	+	20	2235	c.2047C>T	c.(2047-2049)Cag>Tag	p.Q683*	NADSYN1_ENST00000530055.1_Nonsense_Mutation_p.Q312*|NADSYN1_ENST00000539574.1_Nonsense_Mutation_p.Q423*	NM_018161.4	NP_060631.2	Q6IA69	NADE_HUMAN	NAD synthetase 1	683	Ligase (By similarity).				NAD biosynthetic process|water-soluble vitamin metabolic process	cytosol	ATP binding|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds|NAD+ synthase (glutamine-hydrolyzing) activity|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	25					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	CTGGCCTTGGCAGTTTCGGTG	0.473													6	67					0	0	1	0	0	T	71209551	C	T	71209551	4	4	81	1	0	0	0	0	0	1	0	0	10186	711	25	2	2125	2	NADSYN1	11	71209551	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	40042	71209551	63796965	8859	12475											
KRTAP5-9	3846	broad.mit.edu	37	11	71260186	71260186	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:71260186C>A	ENST00000528743.2	+	1	721	c.483C>A	c.(481-483)gtC>gtA	p.V161V		NM_005553.3	NP_005544.4	P26371	KRA59_HUMAN	keratin associated protein 5-9	161	8 X 4 AA repeats of C-C-X-P.				epidermis development	keratin filament				kidney(1)|large_intestine(1)|lung(6)|prostate(3)	11						GATGCTGTGTCCCTGTGTGCT	0.567													10	117					0.000978159	0.00104673	1	1	0	A	71260186	C	A	71260186	2	1	81	1	0	0	0	0	0	0	0	1	8607	842	30	5		5	KRTAP5-9	11	71260186	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	50635	71260186	63746330	8860	12476											
RNF121	55298	broad.mit.edu	37	11	71671880	71671880	+	Translation_Start_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:71671880G>A	ENST00000545854.1	+	0	154				RNF121_ENST00000533380.1_Silent_p.L30L|RNF121_ENST00000530137.1_Silent_p.L30L|RNF121_ENST00000490867.1_3'UTR|RNF121_ENST00000393713.3_Silent_p.L30L|RNF121_ENST00000361756.3_Silent_p.L62L			Q9H920	RN121_HUMAN	ring finger protein 121							integral to membrane	zinc ion binding			endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|urinary_tract(1)	13						TCGCAACCTTGGTGGTGGCCC	0.542													5	51					0	0	1	0	0	A	71671880	G	A	71671880	1	1	81	1	0	0	0	0	0	0	0	0	13483	1339	47	2		2	RNF121	11	71671880	Translation_Start_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	411694	71671880	63334636	8861	12477											
NUMA1	4926	broad.mit.edu	37	11	71715338	71715338	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:71715338C>T	ENST00000393695.3	-	25	6387	c.6056G>A	c.(6055-6057)cGa>cAa	p.R2019Q	NUMA1_ENST00000358965.6_Missense_Mutation_p.R2005Q|NUMA1_ENST00000351960.6_Missense_Mutation_p.R883Q	NM_006185.2	NP_006176.2	Q14980	NUMA1_HUMAN	nuclear mitotic apparatus protein 1	2019					G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						CCCTTCATGTCGGTCTCGGGG	0.557			T	RARA	APL								30	51					0	0	1	0	0	T	71715338	C	T	71715338	3	4	81	1	0	0	0	0	1	0	0	0	10798	884	31	1	303	1	NUMA1	11	71715338	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	43458	71715338	63291178	8862	12478											
NUMA1	4926	broad.mit.edu	37	11	71725431	71725431	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:71725431C>T	ENST00000393695.3	-	15	3449	c.3118G>A	c.(3118-3120)Gag>Aag	p.E1040K	NUMA1_ENST00000358965.6_Missense_Mutation_p.E1040K|RP11-849H4.4_ENST00000502284.1_RNA|NUMA1_ENST00000351960.6_Intron	NM_006185.2	NP_006176.2	Q14980	NUMA1_HUMAN	nuclear mitotic apparatus protein 1	1040					G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						ACACGCTGCTCGTTGAGGGCG	0.647			T	RARA	APL								25	48					0	0	1	0	0	T	71725431	C	T	71725431	3	4	81	1	0	0	0	0	1	0	0	0	10798	893	31	1	3281	1	NUMA1	11	71725431	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	10093	71725431	63281085	8863	12479											
NUMA1	4926	broad.mit.edu	37	11	71726695	71726695	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:71726695C>A	ENST00000393695.3	-	15	2185	c.1854G>T	c.(1852-1854)gaG>gaT	p.E618D	NUMA1_ENST00000358965.6_Missense_Mutation_p.E618D|RP11-849H4.4_ENST00000502284.1_RNA|NUMA1_ENST00000351960.6_Intron	NM_006185.2	NP_006176.2	Q14980	NUMA1_HUMAN	nuclear mitotic apparatus protein 1	618					G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						GCTGCAGAATCTCCAGCTTGG	0.622			T	RARA	APL								4	33					0.00909568	0.00944708	1	1	0	A	71726695	C	A	71726695	3	1	81	1	0	0	0	0	1	0	0	0	10798	912	32	4	4545	4	NUMA1	11	71726695	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1264	71726695	63279821	8864	12480											
NUMA1	4926	broad.mit.edu	37	11	71726774	71726774	+	Missense_Mutation	SNP	C	C	T	rs147334088		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:71726774C>T	ENST00000393695.3	-	15	2106	c.1775G>A	c.(1774-1776)cGa>cAa	p.R592Q	NUMA1_ENST00000358965.6_Missense_Mutation_p.R592Q|RP11-849H4.4_ENST00000502284.1_RNA|NUMA1_ENST00000351960.6_Intron	NM_006185.2	NP_006176.2	Q14980	NUMA1_HUMAN	nuclear mitotic apparatus protein 1	592					G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						GGAGGCCTCTCGCTCCTCTGC	0.597			T	RARA	APL						OREG0021187	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	73					0	0	1	0	0	T	71726774	C	T	71726774	3	4	81	1	0	0	0	0	1	0	0	0	10798	884	31	1	4624	1	NUMA1	11	71726774	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	79	71726774	63279742	8865	12481											
NUMA1	4926	broad.mit.edu	37	11	71729310	71729310	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:71729310G>A	ENST00000393695.3	-	12	1228	c.897C>T	c.(895-897)tgC>tgT	p.C299C	NUMA1_ENST00000358965.6_Silent_p.C299C|RP11-849H4.4_ENST00000502284.1_RNA|NUMA1_ENST00000351960.6_Silent_p.C299C	NM_006185.2	NP_006176.2	Q14980	NUMA1_HUMAN	nuclear mitotic apparatus protein 1	299					G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						TCAGGTCCTGGCACTGCTTCA	0.552			T	RARA	APL								4	60					0	0	1	0	0	A	71729310	G	A	71729310	2	1	81	1	0	0	0	0	0	0	0	1	10798	1195	42	2		2	NUMA1	11	71729310	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2536	71729310	63277206	8866	12482											
INPPL1	3636	broad.mit.edu	37	11	71939482	71939482	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:71939482C>A	ENST00000298229.2	+	3	541	c.337C>A	c.(337-339)Ctg>Atg	p.L113M	INPPL1_ENST00000538751.1_5'UTR|INPPL1_ENST00000541756.1_5'UTR	NM_001567.3	NP_001558.3	O15357	SHIP2_HUMAN	inositol polyphosphate phosphatase-like 1	113	SH2.				actin filament organization|cell adhesion|endocytosis	actin cortical patch|cytosol	actin binding|SH2 domain binding|SH3 domain binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						TGTGTGCGCCCTGCTTCTTCC	0.672													14	66					1.3612e-06	1.56842e-06	1	1	0	A	71939482	C	A	71939482	3	1	81	1	0	0	0	0	1	0	0	0	7805	680	24	4	347	4	INPPL1	11	71939482	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	210172	71939482	63067034	8867	12483											
INPPL1	3636	broad.mit.edu	37	11	71942546	71942546	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:71942546C>T	ENST00000298229.2	+	13	1706	c.1502C>T	c.(1501-1503)gCc>gTc	p.A501V	INPPL1_ENST00000538751.1_Missense_Mutation_p.A259V|INPPL1_ENST00000541756.1_Missense_Mutation_p.A259V	NM_001567.3	NP_001558.3	O15357	SHIP2_HUMAN	inositol polyphosphate phosphatase-like 1	501					actin filament organization|cell adhesion|endocytosis	actin cortical patch|cytosol	actin binding|SH2 domain binding|SH3 domain binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						ACCCAGATTGCCATGCAATCA	0.522													12	27					0	0	1	0	0	T	71942546	C	T	71942546	3	4	81	1	0	0	0	0	1	0	0	0	7805	739	26	2	1552	2	INPPL1	11	71942546	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3064	71942546	63063970	8868	12484											
INPPL1	3636	broad.mit.edu	37	11	71943759	71943759	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:71943759A>G	ENST00000298229.2	+	15	2006	c.1802A>G	c.(1801-1803)cAc>cGc	p.H601R	INPPL1_ENST00000538751.1_Missense_Mutation_p.H359R|INPPL1_ENST00000541756.1_Missense_Mutation_p.H359R	NM_001567.3	NP_001558.3	O15357	SHIP2_HUMAN	inositol polyphosphate phosphatase-like 1	601					actin filament organization|cell adhesion|endocytosis	actin cortical patch|cytosol	actin binding|SH2 domain binding|SH3 domain binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						CGTTTCACACACCTCTTCTGG	0.592													21	52					0	0	1	0	0	G	71943759	A	G	71943759	3	3	81	1	0	0	0	0	1	0	0	0	7805	159	6	3	1860	3	INPPL1	11	71943759	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	1213	71943759	63062757	8869	12485											
ARAP1	116985	broad.mit.edu	37	11	72408216	72408216	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:72408216C>T	ENST00000359373.5	-	22	3829	c.2978G>A	c.(2977-2979)cGc>cAc	p.R993H	ARAP1_ENST00000495878.1_5'UTR|ARAP1_ENST00000334211.8_Missense_Mutation_p.R748H|ARAP1_ENST00000426523.1_Missense_Mutation_p.R748H|ARAP1_ENST00000393605.3_Missense_Mutation_p.R753H|ARAP1_ENST00000429686.1_Missense_Mutation_p.R687H|ARAP1_ENST00000455638.2_Missense_Mutation_p.R993H|ARAP1_ENST00000393609.3_Missense_Mutation_p.R993H			Q96P48	ARAP1_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1	993	Rho-GAP.				actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction	cytosol|Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|Rho GTPase activator activity|zinc ion binding			cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						CCCACACTTGCGGTAGATGCC	0.682													5	55					0	0	1	0	0	T	72408216	C	T	72408216	3	4	81	1	0	0	0	0	1	0	0	0	835	768	27	1	1430	1	ARAP1	11	72408216	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	464457	72408216	62598300	8870	12486											
ARAP1	116985	broad.mit.edu	37	11	72408651	72408651	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:72408651C>T	ENST00000359373.5	-	20	3632	c.2781G>A	c.(2779-2781)gaG>gaA	p.E927E	ARAP1_ENST00000495878.1_5'UTR|ARAP1_ENST00000334211.8_Silent_p.E682E|ARAP1_ENST00000426523.1_Silent_p.E682E|ARAP1_ENST00000393605.3_Silent_p.E687E|ARAP1_ENST00000429686.1_Silent_p.E621E|ARAP1_ENST00000455638.2_Silent_p.E927E|ARAP1_ENST00000393609.3_Silent_p.E927E			Q96P48	ARAP1_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1	927					actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction	cytosol|Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|Rho GTPase activator activity|zinc ion binding			cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						ACCTCCTTCGCTCCACCAGCA	0.632													34	54					0	0	1	0	0	T	72408651	C	T	72408651	2	4	81	1	0	0	0	0	0	0	0	1	835	796	28	2		2	ARAP1	11	72408651	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	435	72408651	62597865	8871	12487											
ARAP1	116985	broad.mit.edu	37	11	72424111	72424111	+	Translation_Start_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:72424111C>A	ENST00000393605.3	-	0	85				ARAP1_ENST00000334211.8_Intron|ARAP1_ENST00000426523.1_Intron|ARAP1_ENST00000429686.1_Intron|ARAP1_ENST00000455638.2_Intron|ARAP1_ENST00000393609.3_Intron|ARAP1_ENST00000359373.5_Intron			Q96P48	ARAP1_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1						actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction	cytosol|Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|Rho GTPase activator activity|zinc ion binding			cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						AAGGGGAAGCCTCCCGGGAAA	0.652													3	16					1	1	1	1	0	A	72424111	C	A	72424111	1	1	81	1	0	0	0	0	0	0	0	0	835	696	24	4		4	ARAP1	11	72424111	Translation_Start_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	15460	72424111	62582405	8872	12488											
ATG16L2	89849	broad.mit.edu	37	11	72537750	72537750	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:72537750G>T	ENST00000321297.5	+	13	1386	c.1248G>T	c.(1246-1248)gaG>gaT	p.E416D	ATG16L2_ENST00000534905.1_Intron	NM_033388.1	NP_203746.1	Q8NAA4	A16L2_HUMAN	autophagy related 16-like 2 (S. cerevisiae)	416					autophagy|protein transport	cytoplasm	protein binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)	14			BRCA - Breast invasive adenocarcinoma(5;2.73e-06)			GGGTACAGGAGACACTGTCTG	0.592													41	74					3.61848e-18	4.68703e-18	1	1	0	T	72537750	G	T	72537750	3	4	81	1	0	0	0	0	1	0	0	0	1091	933	33	4	1298	4	ATG16L2	11	72537750	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	113639	72537750	62468766	8873	12489											
FCHSD2	9873	broad.mit.edu	37	11	72726854	72726854	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:72726854C>A	ENST00000409314.1	-	4	410	c.242G>T	c.(241-243)aGg>aTg	p.R81M	FCHSD2_ENST00000311172.7_Splice_Site_p.R25M|FCHSD2_ENST00000409853.1_Splice_Site_p.R25M|FCHSD2_ENST00000409418.4_Splice_Site_p.R81M|FCHSD2_ENST00000458644.2_5'UTR			O94868	FCSD2_HUMAN	FCH and double SH3 domains 2	81							protein binding			endometrium(2)|large_intestine(11)|lung(5)|ovary(2)|prostate(1)|skin(1)	22			BRCA - Breast invasive adenocarcinoma(5;3.3e-05)			ACTAATTTACCTGTAATCATT	0.308													4	20					0.00909568	0.00944708	1	1	0	A	72726854	C	A	72726854	5	1	81	1	0	0	0	0	0	0	1	0	5823	695	24	4	2048	4	FCHSD2	11	72726854	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	189104	72726854	62279662	8874	12490											
P2RY2	5029	broad.mit.edu	37	11	72945750	72945750	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:72945750C>A	ENST00000311131.2	+	3	1013	c.546C>A	c.(544-546)acC>acA	p.T182T	P2RY2_ENST00000393597.2_Silent_p.T182T|P2RY2_ENST00000393596.2_Silent_p.T182T	NM_002564.2|NM_176072.1	NP_002555|NP_788086	P41231	P2RY2_HUMAN	purinergic receptor P2Y, G-protein coupled, 2	182					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25					Suramin(DB04786)	GCCGCGTAACCTGCCACGACA	0.692													14	15					1.49906e-05	1.6816e-05	1	1	0	A	72945750	C	A	72945750	2	1	81	1	0	0	0	0	0	0	0	1	11399	668	24	4		4	P2RY2	11	72945750	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	218896	72945750	62060766	8875	12491											
P2RY2	5029	broad.mit.edu	37	11	72946019	72946019	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:72946019G>A	ENST00000311131.2	+	3	1282	c.815G>A	c.(814-816)cGc>cAc	p.R272H	P2RY2_ENST00000393597.2_Missense_Mutation_p.R272H|P2RY2_ENST00000393596.2_Missense_Mutation_p.R272H	NM_002564.2|NM_176072.1	NP_002555|NP_788086	P41231	P2RY2_HUMAN	purinergic receptor P2Y, G-protein coupled, 2	272					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25					Suramin(DB04786)	TACTCCTTCCGCTCGCTGGAC	0.632													15	21					0	0	1	0	0	A	72946019	G	A	72946019	3	1	81	1	0	0	0	0	1	0	0	0	11399	1087	38	1	817	1	P2RY2	11	72946019	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	269	72946019	62060497	8876	12492											
P2RY6	5031	broad.mit.edu	37	11	73007689	73007689	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:73007689G>A	ENST00000393590.2	+	2	425	c.126G>A	c.(124-126)ccG>ccA	p.P42P	P2RY6_ENST00000393592.2_Silent_p.P42P|P2RY6_ENST00000540342.1_Silent_p.P42P|P2RY6_ENST00000349767.2_Silent_p.P42P|P2RY6_ENST00000538328.1_Silent_p.P42P|P2RY6_ENST00000542092.1_Silent_p.P42P|P2RY6_ENST00000540124.1_Silent_p.P42P|P2RY6_ENST00000393591.1_Silent_p.P42P	NM_001277207.1|NM_001277208.1	NP_001264136.1|NP_001264137.1	Q15077	P2RY6_HUMAN	pyrimidinergic receptor P2Y, G-protein coupled, 6	42					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)	14						CTGGCCTGCCGCTGAACATCT	0.617													68	79					0	0	1	0	0	A	73007689	G	A	73007689	2	1	81	1	0	0	0	0	0	0	0	1	11401	1074	38	1		1	P2RY6	11	73007689	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	61670	73007689	61998827	8877	12493											
P2RY6	5031	broad.mit.edu	37	11	73007793	73007793	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:73007793G>A	ENST00000393590.2	+	2	529	c.230G>A	c.(229-231)tGc>tAc	p.C77Y	P2RY6_ENST00000393592.2_Missense_Mutation_p.C77Y|P2RY6_ENST00000540342.1_Missense_Mutation_p.C77Y|P2RY6_ENST00000349767.2_Missense_Mutation_p.C77Y|P2RY6_ENST00000538328.1_Missense_Mutation_p.C77Y|P2RY6_ENST00000542092.1_Missense_Mutation_p.C77Y|P2RY6_ENST00000540124.1_Missense_Mutation_p.C77Y|P2RY6_ENST00000393591.1_Missense_Mutation_p.C77Y	NM_001277207.1|NM_001277208.1	NP_001264136.1|NP_001264137.1	Q15077	P2RY6_HUMAN	pyrimidinergic receptor P2Y, G-protein coupled, 6	77					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)	14						CTATATGCCTGCTCCCTGCCC	0.597													18	130					0	0	1	0	0	A	73007793	G	A	73007793	3	1	81	1	0	0	0	0	1	0	0	0	11401	1319	46	2	232	2	P2RY6	11	73007793	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	104	73007793	61998723	8878	12494											
ARHGEF17	9828	broad.mit.edu	37	11	73020777	73020777	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:73020777C>A	ENST00000263674.3	+	1	1444	c.1094C>A	c.(1093-1095)tCt>tAt	p.S365Y		NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	365					actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						ATGTCTGACTCTGTGGGAGGA	0.642													6	83					0.00116845	0.00124301	1	1	0	A	73020777	C	A	73020777	3	1	81	1	0	0	0	0	1	0	0	0	897	913	32	4	1096	4	ARHGEF17	11	73020777	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	12984	73020777	61985739	8879	12495											
ARHGEF17	9828	broad.mit.edu	37	11	73020858	73020858	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:73020858G>A	ENST00000263674.3	+	1	1525	c.1175G>A	c.(1174-1176)cGt>cAt	p.R392H		NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	392					actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						GGTAGCAGCCGTTATTCCAGC	0.627													6	52					0	0	1	0	0	A	73020858	G	A	73020858	3	1	81	1	0	0	0	0	1	0	0	0	897	1145	40	1	1177	1	ARHGEF17	11	73020858	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	81	73020858	61985658	8880	12496											
ARHGEF17	9828	broad.mit.edu	37	11	73021058	73021058	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:73021058C>T	ENST00000263674.3	+	1	1725	c.1375C>T	c.(1375-1377)Cgg>Tgg	p.R459W		NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	459					actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						GAGTCGACAGCGGAAGTCCCT	0.577													5	44					0	0	1	0	0	T	73021058	C	T	73021058	3	4	81	1	0	0	0	0	1	0	0	0	897	759	27	1	1377	1	ARHGEF17	11	73021058	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	200	73021058	61985458	8881	12497											
ARHGEF17	9828	broad.mit.edu	37	11	73022552	73022552	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:73022552G>A	ENST00000263674.3	+	1	3219	c.2869G>A	c.(2869-2871)Gtt>Att	p.V957I		NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	957					actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						CTCCAGACACGTTCGCCATGC	0.622													11	35					0	0	1	0	0	A	73022552	G	A	73022552	3	1	81	1	0	0	0	0	1	0	0	0	897	1145	40	1	2871	1	ARHGEF17	11	73022552	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1494	73022552	61983964	8882	12498											
ARHGEF17	9828	broad.mit.edu	37	11	73071440	73071440	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:73071440G>A	ENST00000263674.3	+	11	4632	c.4282G>A	c.(4282-4284)Gcg>Acg	p.A1428T		NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	1428					actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						GCTGTGCTACGCGCTTTCCTT	0.657													51	94					0	0	1	0	0	A	73071440	G	A	73071440	3	1	81	1	0	0	0	0	1	0	0	0	897	1087	38	1	4324	1	ARHGEF17	11	73071440	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	48888	73071440	61935076	8883	12499											
RELT	84957	broad.mit.edu	37	11	73101671	73101671	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:73101671G>A	ENST00000064780.2	+	3	381		c.e3+1		RELT_ENST00000393580.2_Splice_Site	NM_152222.1	NP_689408.1	Q969Z4	TR19L_HUMAN	RELT tumor necrosis factor receptor							cytoplasm|integral to membrane|plasma membrane	binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	12						GCCCGACCTGGTGAGCATTGC	0.647													17	40					0	0	1	0	0	A	73101671	G	A	73101671	5	1	81	1	0	0	0	0	0	0	1	0	13273	1275	44	2	127	2	RELT	11	73101671	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	30231	73101671	61904845	8884	12500											
PAAF1	80227	broad.mit.edu	37	11	73611337	73611337	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:73611337T>C	ENST00000544909.1	+	4	664	c.407T>C	c.(406-408)tTt>tCt	p.F136S	PAAF1_ENST00000376384.5_Missense_Mutation_p.F118S|PAAF1_ENST00000543079.1_Intron|PAAF1_ENST00000544552.1_Missense_Mutation_p.F118S|PAAF1_ENST00000535604.1_Missense_Mutation_p.F20S|PAAF1_ENST00000536003.1_Missense_Mutation_p.F118S|PAAF1_ENST00000541951.1_Missense_Mutation_p.F20S|PAAF1_ENST00000310571.3_Missense_Mutation_p.F135S			Q9BRP4	PAAF1_HUMAN	proteasomal ATPase-associated factor 1	135					interspecies interaction between organisms	proteasome complex	protein binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Breast(11;7.42e-05)					GGACATGTGTTTGATGTGAAT	0.463													79	110					0	0	1	0	0	C	73611337	T	C	73611337	3	2	81	1	0	0	0	0	1	0	0	0	11409	1841	64	3	426	3	PAAF1	11	73611337	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	509666	73611337	61395179	8885	12501											
C2CD3	26005	broad.mit.edu	37	11	73796918	73796918	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:73796918G>A	ENST00000334126.7	-	21	3881	c.3655C>T	c.(3655-3657)Cgg>Tgg	p.R1219W	C2CD3_ENST00000313663.7_Missense_Mutation_p.R1219W			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	1219	C2 1.		R -> Q (in dbSNP:rs826058).			centrosome				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					GCGGGTTCCCGTTCAGCCAAA	0.493													9	15					0	0	1	0	0	A	73796918	G	A	73796918	3	1	81	1	0	0	0	0	1	0	0	0	2168	1144	40	1	2280	1	C2CD3	11	73796918	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	185581	73796918	61209598	8886	12502											
C2CD3	26005	broad.mit.edu	37	11	73809210	73809210	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:73809210G>A	ENST00000334126.7	-	16	3049	c.2823C>T	c.(2821-2823)ggC>ggT	p.G941G	C2CD3_ENST00000313663.7_Silent_p.G941G			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	941						centrosome				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					CATTTTGGTGGCCTGAAAACA	0.458													39	41					0	0	1	0	0	A	73809210	G	A	73809210	2	1	81	1	0	0	0	0	0	0	0	1	2168	1190	42	2		2	C2CD3	11	73809210	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	12292	73809210	61197306	8887	12503											
POLD3	10714	broad.mit.edu	37	11	74329667	74329667	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:74329667C>A	ENST00000263681.2	+	6	607	c.478C>A	c.(478-480)Ctt>Att	p.L160I	POLD3_ENST00000532497.1_Missense_Mutation_p.L54I|POLD3_ENST00000527458.1_Missense_Mutation_p.L121I	NM_006591.2	NP_006582.1	Q15054	DPOD3_HUMAN	polymerase (DNA-directed), delta 3, accessory subunit	160					base-excision repair|DNA strand elongation involved in DNA replication|DNA synthesis involved in DNA repair|mismatch repair|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	delta DNA polymerase complex|nucleoplasm	DNA-directed DNA polymerase activity|protein binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|stomach(1)	18	Breast(11;3.21e-06)					GCAGTCACATCTTCACATGTC	0.488													13	118					7.03913e-09	8.42519e-09	1	1	0	A	74329667	C	A	74329667	3	1	81	1	0	0	0	0	1	0	0	0	12240	913	32	4	500	4	POLD3	11	74329667	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	520457	74329667	60676849	8888	12504											
POLD3	10714	broad.mit.edu	37	11	74340269	74340269	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:74340269C>T	ENST00000263681.2	+	9	1036	c.907C>T	c.(907-909)Cga>Tga	p.R303*	POLD3_ENST00000532497.1_Nonsense_Mutation_p.R197*|POLD3_ENST00000527458.1_Nonsense_Mutation_p.R264*	NM_006591.2	NP_006582.1	Q15054	DPOD3_HUMAN	polymerase (DNA-directed), delta 3, accessory subunit	303					base-excision repair|DNA strand elongation involved in DNA replication|DNA synthesis involved in DNA repair|mismatch repair|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	delta DNA polymerase complex|nucleoplasm	DNA-directed DNA polymerase activity|protein binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|stomach(1)	18	Breast(11;3.21e-06)					CAGGGGGAAGCGAGTAGCATT	0.383													46	118					0	0	1	0	0	T	74340269	C	T	74340269	4	4	81	1	0	0	0	0	0	1	0	0	12240	760	27	1	941	1	POLD3	11	74340269	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	10602	74340269	60666247	8889	12505											
CHRDL2	25884	broad.mit.edu	37	11	74413958	74413958	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:74413958G>A	ENST00000376332.3	-	9	1497	c.1001C>T	c.(1000-1002)gCa>gTa	p.A334V	CHRDL2_ENST00000534159.1_5'UTR|CHRDL2_ENST00000263671.5_Missense_Mutation_p.A334V	NM_001278473.1	NP_001265402.1	Q6WN34	CRDL2_HUMAN	chordin-like 2	334					cartilage development|cell differentiation|ossification	extracellular region|mitochondrion				endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)|skin(2)	15	Hepatocellular(1;0.098)					CCGGCCCGGTGCCTTGGGACA	0.567											OREG0021223	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	28	46					0	0	1	0	0	A	74413958	G	A	74413958	3	1	81	1	0	0	0	0	1	0	0	0	3396	1319	46	2	370	2	CHRDL2	11	74413958	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	73689	74413958	60592558	8890	12506											
NEU3	10825	broad.mit.edu	37	11	74717250	74717250	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:74717250C>T	ENST00000294064.4	+	3	2026	c.1099C>T	c.(1099-1101)Cca>Tca	p.P367S	NEU3_ENST00000529024.1_Intron|NEU3_ENST00000532963.1_3'UTR|NEU3_ENST00000544263.1_Missense_Mutation_p.P334S|NEU3_ENST00000531509.1_Missense_Mutation_p.P367S|NEU3_ENST00000545272.1_Missense_Mutation_p.P258S	NM_006656.5	NP_006647.3	A8K327	A8K327_HUMAN	sialidase 3 (membrane sialidase)	367										kidney(2)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	11						GTACTCACACCCAACCAGTAG	0.567													8	46					0	0	1	0	0	T	74717250	C	T	74717250	3	4	81	1	0	0	0	0	1	0	0	0	10390	623	22	2	1109	2	NEU3	11	74717250	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	303292	74717250	60289266	8891	12507											
SLCO2B1	11309	broad.mit.edu	37	11	74904424	74904424	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:74904424A>G	ENST00000289575.5	+	9	1632	c.1237A>G	c.(1237-1239)Atc>Gtc	p.I413V	SLCO2B1_ENST00000531756.1_Missense_Mutation_p.I158V|SLCO2B1_ENST00000428359.2_Missense_Mutation_p.I391V|SLCO2B1_ENST00000532236.1_Missense_Mutation_p.I297V|SLCO2B1_ENST00000525650.1_Missense_Mutation_p.I269V|SLCO2B1_ENST00000341411.4_Missense_Mutation_p.I186V|SLCO2B1_ENST00000454962.2_Missense_Mutation_p.I186V	NM_007256.4	NP_009187	O94956	SO2B1_HUMAN	solute carrier organic anion transporter family, member 2B1	413					sodium-independent organic anion transport	integral to membrane	sodium-independent organic anion transmembrane transporter activity			breast(2)|endometrium(1)|large_intestine(7)|lung(20)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	39					Ergoloid mesylate(DB01049)	CAACCTGCTCATCGGCTGCCT	0.627													9	37					0	0	1	0	0	G	74904424	A	G	74904424	3	3	81	1	0	0	0	0	1	0	0	0	14782	217	8	3	1271	3	SLCO2B1	11	74904424	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	187174	74904424	60102092	8892	12508											
ARRB1	408	broad.mit.edu	37	11	74989755	74989755	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:74989755C>A	ENST00000420843.2	-	8	613	c.516G>T	c.(514-516)caG>caT	p.Q172H	ARRB1_ENST00000360025.3_Missense_Mutation_p.Q172H|ARRB1_ENST00000393505.4_Missense_Mutation_p.Q172H	NM_004041.4	NP_004032.2	P49407	ARRB1_HUMAN	arrestin, beta 1	172					G-protein coupled receptor internalization|histone H4 acetylation|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|platelet activation|positive regulation of ERK1 and ERK2 cascade|positive regulation of histone acetylation|positive regulation of Rho protein signal transduction|positive regulation of transcription from RNA polymerase II promoter|post-Golgi vesicle-mediated transport|proteasomal ubiquitin-dependent protein catabolic process|protein transport|protein ubiquitination|signal transduction|stress fiber assembly|transcription from RNA polymerase II promoter	chromatin|coated pit|cytoplasmic vesicle membrane|cytosol|Golgi membrane|lysosomal membrane|membrane fraction|nucleus|plasma membrane|pseudopodium|soluble fraction	angiotensin receptor binding|enzyme inhibitor activity|GTPase activator activity|insulin-like growth factor receptor binding|transcription factor binding|transcription regulatory region DNA binding|ubiquitin protein ligase binding			breast(4)|large_intestine(2)|lung(4)|prostate(1)	11						CTGGGGCATACTGAACCTTCC	0.597													19	158					2.94398e-08	3.49414e-08	1	1	0	A	74989755	C	A	74989755	3	1	81	1	0	0	0	0	1	0	0	0	979	564	20	4	776	4	ARRB1	11	74989755	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	85331	74989755	60016761	8893	12509											
ARRB1	408	broad.mit.edu	37	11	74992172	74992172	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:74992172G>T	ENST00000420843.2	-	7	526	c.429C>A	c.(427-429)gaC>gaA	p.D143E	ARRB1_ENST00000360025.3_Missense_Mutation_p.D143E|ARRB1_ENST00000393505.4_Missense_Mutation_p.D143E	NM_004041.4	NP_004032.2	P49407	ARRB1_HUMAN	arrestin, beta 1	143	Interaction with SRC (By similarity).				G-protein coupled receptor internalization|histone H4 acetylation|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|platelet activation|positive regulation of ERK1 and ERK2 cascade|positive regulation of histone acetylation|positive regulation of Rho protein signal transduction|positive regulation of transcription from RNA polymerase II promoter|post-Golgi vesicle-mediated transport|proteasomal ubiquitin-dependent protein catabolic process|protein transport|protein ubiquitination|signal transduction|stress fiber assembly|transcription from RNA polymerase II promoter	chromatin|coated pit|cytoplasmic vesicle membrane|cytosol|Golgi membrane|lysosomal membrane|membrane fraction|nucleus|plasma membrane|pseudopodium|soluble fraction	angiotensin receptor binding|enzyme inhibitor activity|GTPase activator activity|insulin-like growth factor receptor binding|transcription factor binding|transcription regulatory region DNA binding|ubiquitin protein ligase binding			breast(4)|large_intestine(2)|lung(4)|prostate(1)	11						TGACTTCATAGTCCACACCGC	0.587													3	4					0.004672	0.00489345	1	1	0	T	74992172	G	T	74992172	3	4	81	1	0	0	0	0	1	0	0	0	979	1020	36	4	867	4	ARRB1	11	74992172	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2417	74992172	60014344	8894	12510											
RPS3	6188	broad.mit.edu	37	11	75115230	75115230	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:75115230C>T	ENST00000531188.1	+	5	579	c.517C>T	c.(517-519)Cgc>Tgc	p.R173C	RPS3_ENST00000534440.1_Intron|RPS3_ENST00000524851.1_Missense_Mutation_p.R173C|RPS3_ENST00000526608.1_Missense_Mutation_p.R161C|RPS3_ENST00000529285.1_Intron|RPS3_ENST00000278572.6_Missense_Mutation_p.R189C|RPS3_ENST00000527446.1_Missense_Mutation_p.R173C	NM_001005.4|NM_001260506.1|NM_001260507.1	NP_000996.2|NP_001247435.1|NP_001247436.1	P23396	RS3_HUMAN	ribosomal protein S3	173					activation of caspase activity|endocrine pancreas development|induction of apoptosis|negative regulation of DNA repair|negative regulation of NF-kappaB transcription factor activity|response to DNA damage stimulus|translational elongation|translational initiation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleus|ruffle membrane	damaged DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|endonuclease activity|iron-sulfur cluster binding|mRNA binding|NF-kappaB binding|protein kinase binding|structural constituent of ribosome			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	6						CACTGCTGTGCGCCACGTGTT	0.507													17	14					0	0	1	0	0	T	75115230	C	T	75115230	3	4	81	1	0	0	0	0	1	0	0	0	13695	768	27	1	535	1	RPS3	11	75115230	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	123058	75115230	59891286	8895	12511											
KLHL35	283212	broad.mit.edu	37	11	75133660	75133660	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:75133660G>A	ENST00000539798.1	-	6	1715	c.1716C>T	c.(1714-1716)caC>caT	p.H572H	KLHL35_ENST00000376292.4_Silent_p.H352H	NM_001039548.2	NP_001034637.2	Q6PF15	KLH35_HUMAN	kelch-like family member 35	352										lung(2)|stomach(1)	3						TGACACAGCCGTGGGAGCTGG	0.612													8	56					0	0	1	0	0	A	75133660	G	A	75133660	2	1	81	1	0	0	0	0	0	0	0	1	8431	1136	40	1		1	KLHL35	11	75133660	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	18430	75133660	59872856	8896	12512											
KLHL35	283212	broad.mit.edu	37	11	75139543	75139543	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:75139543C>T	ENST00000539798.1	-	2	1009	c.1010G>A	c.(1009-1011)gGc>gAc	p.G337D	KLHL35_ENST00000376292.4_Missense_Mutation_p.G117D	NM_001039548.2	NP_001034637.2	Q6PF15	KLH35_HUMAN	kelch-like family member 35	117										lung(2)|stomach(1)	3						GCGAGTGTAGCCGGGCAGGCT	0.642													14	36					0	0	1	0	0	T	75139543	C	T	75139543	3	4	81	1	0	0	0	0	1	0	0	0	8431	739	26	2	761	2	KLHL35	11	75139543	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	5883	75139543	59866973	8897	12513											
GDPD5	81544	broad.mit.edu	37	11	75153512	75153512	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:75153512G>T	ENST00000526177.1	-	8	2527	c.649C>A	c.(649-651)Ctg>Atg	p.L217M	GDPD5_ENST00000376282.3_Missense_Mutation_p.L236M|GDPD5_ENST00000533784.1_Missense_Mutation_p.L236M|GDPD5_ENST00000336898.3_Missense_Mutation_p.L355M|GDPD5_ENST00000533805.1_Missense_Mutation_p.L110M|GDPD5_ENST00000529721.1_Missense_Mutation_p.L355M|GDPD5_ENST00000443276.2_3'UTR			Q8WTR4	GDPD5_HUMAN	glycerophosphodiester phosphodiesterase domain containing 5	355					glycerol metabolic process|lipid metabolic process|nervous system development	endomembrane system|growth cone|integral to membrane|perinuclear region of cytoplasm	glycerophosphodiester phosphodiesterase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|skin(2)	20						TTGAGCAGCAGTGTGGCATTG	0.647													7	20					5.18039e-06	5.88187e-06	1	1	0	T	75153512	G	T	75153512	3	4	81	1	0	0	0	0	1	0	0	0	6369	1020	36	4	778	4	GDPD5	11	75153512	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	13969	75153512	59853004	8898	12514											
GDPD5	81544	broad.mit.edu	37	11	75168791	75168791	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:75168791C>T	ENST00000336898.3	-	5	1099	c.262G>A	c.(262-264)Gta>Ata	p.V88I	GDPD5_ENST00000376282.3_Intron|GDPD5_ENST00000533784.1_Intron|GDPD5_ENST00000529721.1_Missense_Mutation_p.V88I|GDPD5_ENST00000443276.2_Missense_Mutation_p.V88I	NM_030792.6	NP_110419.5	Q8WTR4	GDPD5_HUMAN	glycerophosphodiester phosphodiesterase domain containing 5	88					glycerol metabolic process|lipid metabolic process|nervous system development	endomembrane system|growth cone|integral to membrane|perinuclear region of cytoplasm	glycerophosphodiester phosphodiesterase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|skin(2)	20						AGGATGGGTACGGGCCAGTCG	0.637													17	34					0	0	1	0	0	T	75168791	C	T	75168791	3	4	81	1	0	0	0	0	1	0	0	0	6369	536	19	1	1607	1	GDPD5	11	75168791	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	15279	75168791	59837725	8899	12515											
MAP6	4135	broad.mit.edu	37	11	75298562	75298562	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:75298562C>A	ENST00000304771.3	-	4	2734	c.1984G>T	c.(1984-1986)Ggt>Tgt	p.G662C	MAP6_ENST00000526740.1_Missense_Mutation_p.G333C|CTD-2530H12.4_ENST00000527803.1_RNA	NM_033063.1	NP_149052.1	Q96JE9	MAP6_HUMAN	microtubule-associated protein 6	662	Pro-rich.					Golgi apparatus|microtubule|perinuclear region of cytoplasm	calmodulin binding	p.G662R(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	19	Ovarian(111;0.11)					ACCATGGAACCTTGATTCTTT	0.498													35	74					3.11337e-16	3.99083e-16	1	1	0	A	75298562	C	A	75298562	3	1	81	1	0	0	0	0	1	0	0	0	9314	681	24	4	461	4	MAP6	11	75298562	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	129771	75298562	59707954	8900	12516											
MOGAT2	80168	broad.mit.edu	37	11	75439997	75439997	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:75439997T>C	ENST00000526712.1	+	4	1340	c.567T>C	c.(565-567)ttT>ttC	p.F189F	MOGAT2_ENST00000198801.5_Silent_p.F271F			Q3SYC2	MOGT2_HUMAN	monoacylglycerol O-acyltransferase 2	271					glycerol metabolic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity			NS(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	20	Ovarian(111;0.103)					AGTACAGCTTTGGTTTAATAC	0.562													5	69					0	0	1	0	0	C	75439997	T	C	75439997	2	2	81	1	0	0	0	0	0	0	0	1	9744	1809	63	3		3	MOGAT2	11	75439997	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	141435	75439997	59566519	8901	12517											
UVRAG	7405	broad.mit.edu	37	11	75852240	75852240	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:75852240C>T	ENST00000356136.3	+	15	2124	c.1883C>T	c.(1882-1884)aCt>aTt	p.T628I	UVRAG_ENST00000538870.1_Missense_Mutation_p.T184I|UVRAG_ENST00000532130.1_Missense_Mutation_p.T256I|UVRAG_ENST00000539288.1_Missense_Mutation_p.T256I|UVRAG_ENST00000528420.1_Missense_Mutation_p.T527I|UVRAG_ENST00000533454.1_Missense_Mutation_p.T256I|UVRAG_ENST00000531818.1_Missense_Mutation_p.T256I	NM_003369.3	NP_003360.2	Q9P2Y5	UVRAG_HUMAN	UV radiation resistance associated	628					DNA repair|positive regulation of autophagy	early endosome|late endosome|lysosome	protein binding			central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(15)|skin(5)|urinary_tract(2)	32						CTCTGCTGTACTGTGGAGCAA	0.567													24	25					0	0	1	0	0	T	75852240	C	T	75852240	3	4	81	1	0	0	0	0	1	0	0	0	17168	565	20	2	1941	2	UVRAG	11	75852240	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	412243	75852240	59154276	8902	12518											
WNT11	7481	broad.mit.edu	37	11	75898153	75898153	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:75898153A>G	ENST00000322563.3	-	5	1145	c.1021T>C	c.(1021-1023)Tgc>Cgc	p.C341R		NM_004626.2	NP_004617.2	O96014	WNT11_HUMAN	wingless-type MMTV integration site family, member 11	341					adrenal gland development|anterior/posterior pattern formation|artery morphogenesis|axis specification|bone mineralization|cellular response to retinoic acid|cloacal septation|embryonic skeletal system development|endoderm development|lung-associated mesenchyme development|mesonephric duct development|negative regulation of apoptosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cartilage development|negative regulation of cell growth|negative regulation of cell migration|negative regulation of transcription, DNA-dependent|neuroendocrine cell differentiation|neuron differentiation|osteoblast differentiation|outflow tract morphogenesis|palate development|positive regulation of cell migration|positive regulation of protein kinase C signaling cascade|positive regulation of stress fiber assembly|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor-beta2 production|protein localization at cell surface|protein phosphorylation|tight junction assembly|ureteric bud morphogenesis|ventricular septum morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway	cytoplasm|extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|protein kinase activator activity|Ras GTPase activator activity|transcription regulatory region DNA binding			breast(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	20						CACCTGCGGCAGGTGACGTAG	0.637													19	34					0	0	1	0	0	G	75898153	A	G	75898153	3	3	81	1	0	0	0	0	1	0	0	0	17444	188	7	3	47	3	WNT11	11	75898153	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	45913	75898153	59108363	8903	12519											
WNT11	7481	broad.mit.edu	37	11	75907592	75907592	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:75907592G>A	ENST00000322563.3	-	2	378	c.254C>T	c.(253-255)gCc>gTc	p.A85V		NM_004626.2	NP_004617.2	O96014	WNT11_HUMAN	wingless-type MMTV integration site family, member 11	85					adrenal gland development|anterior/posterior pattern formation|artery morphogenesis|axis specification|bone mineralization|cellular response to retinoic acid|cloacal septation|embryonic skeletal system development|endoderm development|lung-associated mesenchyme development|mesonephric duct development|negative regulation of apoptosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cartilage development|negative regulation of cell growth|negative regulation of cell migration|negative regulation of transcription, DNA-dependent|neuroendocrine cell differentiation|neuron differentiation|osteoblast differentiation|outflow tract morphogenesis|palate development|positive regulation of cell migration|positive regulation of protein kinase C signaling cascade|positive regulation of stress fiber assembly|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor-beta2 production|protein localization at cell surface|protein phosphorylation|tight junction assembly|ureteric bud morphogenesis|ventricular septum morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway	cytoplasm|extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|protein kinase activator activity|Ras GTPase activator activity|transcription regulatory region DNA binding			breast(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	20						GCGCATGTCGGCAAAGGCCCG	0.627													36	98					0	0	1	0	0	A	75907592	G	A	75907592	3	1	81	1	0	0	0	0	1	0	0	0	17444	1203	42	2	826	2	WNT11	11	75907592	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	9439	75907592	59098924	8904	12520											
C11orf30	56946	broad.mit.edu	37	11	76183810	76183810	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:76183810C>A	ENST00000529032.1	+	7	1034	c.1034C>A	c.(1033-1035)cCt>cAt	p.P345H	C11orf30_ENST00000524490.1_Missense_Mutation_p.P346H|C11orf30_ENST00000524767.1_Missense_Mutation_p.P360H|C11orf30_ENST00000533248.1_Missense_Mutation_p.P359H|C11orf30_ENST00000343878.3_Missense_Mutation_p.P345H|C11orf30_ENST00000334736.3_Missense_Mutation_p.P345H|C11orf30_ENST00000525919.1_Missense_Mutation_p.P346H|C11orf30_ENST00000525038.1_Missense_Mutation_p.P360H			Q7Z589	EMSY_HUMAN	chromosome 11 open reading frame 30	345	Interaction with BRCA2.|Ser-rich.				chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2)	60						ACACCATCACCTATTCCTAAT	0.453													5	60					3.59834e-05	3.99423e-05	1	1	0	A	76183810	C	A	76183810	3	1	81	1	0	0	0	0	1	0	0	0	1641	681	24	4	1060	4	C11orf30	11	76183810	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	276218	76183810	58822706	8905	12521											
LRRC32	2615	broad.mit.edu	37	11	76372121	76372121	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:76372121C>T	ENST00000407242.2	-	3	758	c.516G>A	c.(514-516)atG>atA	p.M172I	AP001189.4_ENST00000447519.1_RNA|LRRC32_ENST00000464145.1_Intron|LRRC32_ENST00000260061.5_Missense_Mutation_p.M172I|LRRC32_ENST00000404995.1_Missense_Mutation_p.M172I	NM_005512.2	NP_005503.1	Q14392	LRC32_HUMAN	leucine rich repeat containing 32	172						integral to plasma membrane				endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1)	31						CCAGCGCAGGCATGTCCCGGA	0.647													26	33					0	0	1	0	0	T	76372121	C	T	76372121	3	4	81	1	0	0	0	0	1	0	0	0	9032	710	25	2	1476	2	LRRC32	11	76372121	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	188311	76372121	58634395	8906	12522											
CAPN5	726	broad.mit.edu	37	11	76823762	76823762	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:76823762C>T	ENST00000278559.3	+	4	614	c.425C>T	c.(424-426)aCa>aTa	p.T142I	CAPN5_ENST00000531028.1_Intron|CAPN5_ENST00000529629.1_Missense_Mutation_p.T142I|CAPN5_ENST00000456580.2_Missense_Mutation_p.T182I	NM_004055.4	NP_004046.2	O15484	CAN5_HUMAN	calpain 5	142	Calpain catalytic.				proteolysis|signal transduction	intracellular	calcium-dependent cysteine-type endopeptidase activity			NS(1)|breast(2)|endometrium(2)|large_intestine(7)|lung(17)|urinary_tract(1)	30						CGGCTGCCCACAGTCAACAAC	0.597													6	36					0	0	1	0	0	T	76823762	C	T	76823762	3	4	81	1	0	0	0	0	1	0	0	0	2647	478	17	2	435	2	CAPN5	11	76823762	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	451641	76823762	58182754	8907	12523											
CAPN5	726	broad.mit.edu	37	11	76826516	76826516	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:76826516G>A	ENST00000278559.3	+	6	964	c.775G>A	c.(775-777)Gtg>Atg	p.V259M	CAPN5_ENST00000531028.1_Intron|CAPN5_ENST00000529629.1_Missense_Mutation_p.V259M|CAPN5_ENST00000456580.2_Missense_Mutation_p.V299M	NM_004055.4	NP_004046.2	O15484	CAN5_HUMAN	calpain 5	259	Calpain catalytic.				proteolysis|signal transduction	intracellular	calcium-dependent cysteine-type endopeptidase activity			NS(1)|breast(2)|endometrium(2)|large_intestine(7)|lung(17)|urinary_tract(1)	30						CGTCACTGATGTGCGCAAGGT	0.637													15	23					0	0	1	0	0	A	76826516	G	A	76826516	3	1	81	1	0	0	0	0	1	0	0	0	2647	1377	48	2	793	2	CAPN5	11	76826516	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2754	76826516	58180000	8908	12524											
MYO7A	4647	broad.mit.edu	37	11	76868017	76868017	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:76868017G>T	ENST00000409709.3	+	7	974	c.702G>T	c.(700-702)caG>caT	p.Q234H	MYO7A_ENST00000409619.2_Missense_Mutation_p.Q223H|MYO7A_ENST00000409893.1_Missense_Mutation_p.Q234H|MYO7A_ENST00000458637.2_Missense_Mutation_p.Q234H	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	234	Myosin head-like.				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						AGATTGAGCAGTACCTGCTGG	0.597													25	58					7.92952e-12	9.86359e-12	1	1	0	T	76868017	G	T	76868017	3	4	81	1	0	0	0	0	1	0	0	0	10130	1020	36	4	724	4	MYO7A	11	76868017	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	41501	76868017	58138499	8909	12525											
MYO7A	4647	broad.mit.edu	37	11	76869430	76869430	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:76869430G>A	ENST00000409709.3	+	9	1229	c.957G>A	c.(955-957)tcG>tcA	p.S319S	MYO7A_ENST00000409619.2_Silent_p.S308S|MYO7A_ENST00000409893.1_Silent_p.S319S|MYO7A_ENST00000458637.2_Silent_p.S319S	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	319	Myosin head-like.				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						GGGAGATCTCGAAGCTCCTGG	0.632													8	26					0	0	1	0	0	A	76869430	G	A	76869430	2	1	81	1	0	0	0	0	0	0	0	1	10130	1045	37	1		1	MYO7A	11	76869430	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1413	76869430	58137086	8910	12526											
MYO7A	4647	broad.mit.edu	37	11	76893070	76893070	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:76893070A>T	ENST00000409709.3	+	24	3250	c.2978A>T	c.(2977-2979)gAg>gTg	p.E993V	MYO7A_ENST00000409619.2_Missense_Mutation_p.E982V|MYO7A_ENST00000409893.1_Missense_Mutation_p.E993V|MYO7A_ENST00000458637.2_Missense_Mutation_p.E993V	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	993					actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						GACGAGGATGAGGAGGACCTC	0.612													7	53					0	0	1	0	0	T	76893070	A	T	76893070	3	4	81	1	0	0	0	0	1	0	0	0	10130	304	11	5	3068	5	MYO7A	11	76893070	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	23640	76893070	58113446	8911	12527											
MYO7A	4647	broad.mit.edu	37	11	76912592	76912592	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:76912592G>T	ENST00000409709.3	+	36	5224	c.4952G>T	c.(4951-4953)gGc>gTc	p.G1651V	MYO7A_ENST00000409619.2_Missense_Mutation_p.G1602V|MYO7A_ENST00000458637.2_Missense_Mutation_p.G1613V	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	1651	SH3.				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						TGGGCCAACGGCATCAATGAG	0.607													13	20					5.01169e-05	5.55051e-05	1	1	0	T	76912592	G	T	76912592	3	4	81	1	0	0	0	0	1	0	0	0	10130	1203	42	5	5124	5	MYO7A	11	76912592	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	19522	76912592	58093924	8912	12528											
GDPD4	220032	broad.mit.edu	37	11	76980946	76980946	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:76980946C>T	ENST00000315938.4	-	7	710	c.460G>A	c.(460-462)Gta>Ata	p.V154I	GDPD4_ENST00000376217.2_Missense_Mutation_p.V154I	NM_182833.1	NP_878253.1	Q6W3E5	GDPD4_HUMAN	glycerophosphodiester phosphodiesterase domain containing 4	154					glycerol metabolic process|lipid metabolic process	integral to membrane	glycerophosphodiester phosphodiesterase activity|metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1)	20						CTTGTGATTACATTACATTGC	0.328													13	18					0	0	1	0	0	T	76980946	C	T	76980946	3	4	81	1	0	0	0	0	1	0	0	0	6368	478	17	2	1142	2	GDPD4	11	76980946	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	68354	76980946	58025570	8913	12529											
PAK1	5058	broad.mit.edu	37	11	77090938	77090938	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:77090938C>T	ENST00000356341.3	-	3	823		c.e3+1		PAK1_ENST00000278568.4_Splice_Site|PAK1_ENST00000528203.1_Splice_Site|PAK1_ENST00000530617.1_Splice_Site	NM_002576.4	NP_002567.3	Q13153	PAK1_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 1						apoptosis|axon guidance|cytoskeleton organization|ER-nucleus signaling pathway|positive regulation of JUN kinase activity|positive regulation of peptidyl-serine phosphorylation|protein autophosphorylation|T cell costimulation|T cell receptor signaling pathway	cytosol|focal adhesion|Golgi apparatus	ATP binding|collagen binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(13)|skin(2)|stomach(1)	29	all_cancers(14;1.75e-18)					CCAGGACTTACCGTAAACTCC	0.423													21	53					0	0	1	0	0	T	77090938	C	T	77090938	5	4	81	1	0	0	0	0	0	0	1	0	11446	521	18	2	1450	2	PAK1	11	77090938	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	109992	77090938	57915578	8914	12530											
RSF1	51773	broad.mit.edu	37	11	77383090	77383090	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:77383090C>A	ENST00000308488.6	-	15	4050	c.3748G>T	c.(3748-3750)Gaa>Taa	p.E1250*	RSF1_ENST00000360355.2_Nonsense_Mutation_p.E1219*|RSF1_ENST00000480887.1_Nonsense_Mutation_p.E998*			Q96T23	RSF1_HUMAN	remodeling and spacing factor 1	1250					CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent	RSF complex	histone binding|protein binding|zinc ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)			GCCTTACCTTCACTCTCTGAG	0.413													66	97					8.3131e-28	1.105e-27	1	1	0	A	77383090	C	A	77383090	4	1	81	1	0	0	0	0	0	1	0	0	13751	835	29	5	585	5	RSF1	11	77383090	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	292152	77383090	57623426	8915	12531											
RSF1	51773	broad.mit.edu	37	11	77387955	77387955	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:77387955T>C	ENST00000308488.6	-	13	3525	c.3223A>G	c.(3223-3225)Aaa>Gaa	p.K1075E	RSF1_ENST00000360355.2_Missense_Mutation_p.K1044E|RSF1_ENST00000480887.1_Missense_Mutation_p.K823E			Q96T23	RSF1_HUMAN	remodeling and spacing factor 1	1075					CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent	RSF complex	histone binding|protein binding|zinc ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)			TGGGGTCGTTTATTTTCTTTT	0.468													7	114					0	0	1	0	0	C	77387955	T	C	77387955	3	2	81	1	0	0	0	0	1	0	0	0	13751	1763	61	3	1118	3	RSF1	11	77387955	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	4865	77387955	57618561	8916	12532											
RSF1	51773	broad.mit.edu	37	11	77412163	77412164	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:77412163_77412164insT	ENST00000308488.6	-	6	2412_2413	c.2110_2111insA	c.(2110-2112)agcfs	p.S704fs	RSF1_ENST00000360355.2_Frame_Shift_Ins_p.S673fs|RSF1_ENST00000480887.1_Frame_Shift_Ins_p.S452fs			Q96T23	RSF1_HUMAN	remodeling and spacing factor 1	704					CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent	RSF complex	histone binding|protein binding|zinc ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)			TTTGAATTTGCTTTTTTGCATA	0.406													47	74	---	---	---	---						T	77412164	-	T	77412163	7	5	81	1	0	1	1	0	0	0	0	0	13751	797	28	0	2258	0	RSF1	11	77412163	Frame_Shift_Ins	INS	-	TCGA-DU-6392-01A-11D-1705-08	24208	77412163	57594353	8917	12533											
RSF1	51773	broad.mit.edu	37	11	77412657	77412657	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:77412657A>G	ENST00000308488.6	-	6	1919	c.1617T>C	c.(1615-1617)acT>acC	p.T539T	RSF1_ENST00000360355.2_Silent_p.T508T|RSF1_ENST00000480887.1_Silent_p.T287T			Q96T23	RSF1_HUMAN	remodeling and spacing factor 1	539					CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent	RSF complex	histone binding|protein binding|zinc ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)			AATCAAGAGAAGTTTCCATTT	0.413													90	168					0	0	1	0	0	G	77412657	A	G	77412657	2	3	81	1	0	0	0	0	0	0	0	1	13751	59	3	3		3	RSF1	11	77412657	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	494	77412657	57593859	8918	12534											
RSF1	51773	broad.mit.edu	37	11	77451833	77451833	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:77451833C>T	ENST00000308488.6	-	4	823	c.521G>A	c.(520-522)aGa>aAa	p.R174K	RSF1_ENST00000360355.2_Missense_Mutation_p.R143K			Q96T23	RSF1_HUMAN	remodeling and spacing factor 1	174					CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent	RSF complex	histone binding|protein binding|zinc ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)			TATGTACATTCTGACATTGTG	0.393													5	88					0	0	1	0	0	T	77451833	C	T	77451833	3	4	81	1	0	0	0	0	1	0	0	0	13751	913	32	2	3856	2	RSF1	11	77451833	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	39176	77451833	57554683	8919	12535											
INTS4	92105	broad.mit.edu	37	11	77635939	77635939	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:77635939C>A	ENST00000534064.1	-	12	1406		c.e12-1		INTS4_ENST00000525931.1_Splice_Site|INTS4_ENST00000529807.1_Splice_Site	NM_033547.3	NP_291025.3	Q96HW7	INT4_HUMAN	integrator complex subunit 4						snRNA processing	integrator complex	protein binding		INTS4/GAB2(2)	NS(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(5)|upper_aerodigestive_tract(1)	32	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		Epithelial(5;1.13e-46)|all cancers(3;8.92e-44)|BRCA - Breast invasive adenocarcinoma(5;8.4e-26)|OV - Ovarian serous cystadenocarcinoma(8;1.05e-23)			TGGATGAATCCTTTTAAAAAA	0.418													9	27					0.000151284	0.000165917	1	1	0	A	77635939	C	A	77635939	5	1	81	1	0	0	0	0	0	0	1	0	7824	695	24	4	1568	4	INTS4	11	77635939	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	184106	77635939	57370577	8920	12536											
KCTD14	65987	broad.mit.edu	37	11	77734238	77734238	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:77734238G>A	ENST00000353172.5	-	1	102	c.58C>T	c.(58-60)Ctg>Ttg	p.L20L	RP11-7I15.4_ENST00000526730.1_RNA|KCTD14_ENST00000533144.1_Intron|NDUFC2-KCTD14_ENST00000528251.1_Intron|NDUFC2-KCTD14_ENST00000530054.1_Intron	NM_001203260.1|NM_001203262.1|NM_001282406.1|NM_023930.3	NP_001190189.1|NP_001190191.1|NP_001269335.1|NP_076419.2	Q9BQ13	KCD14_HUMAN	potassium channel tetramerization domain containing 14	20						voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	15	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1e-24)			GACTGGGGCAGAGGGGTCTGG	0.716													5	33					0	0	1	0	0	A	77734238	G	A	77734238	2	1	81	1	0	0	0	0	0	0	0	1	8145	933	33	2		2	KCTD14	11	77734238	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	98299	77734238	57272278	8921	12537											
THRSP	7069	broad.mit.edu	37	11	77775031	77775031	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:77775031G>A	ENST00000281030.2	+	1	125	c.104G>A	c.(103-105)aGc>aAc	p.S35N	NDUFC2-KCTD14_ENST00000528251.1_Intron|NDUFC2-KCTD14_ENST00000530054.1_Intron	NM_003251.3	NP_003242.1	Q92748	THRSP_HUMAN	thyroid hormone responsive	35					lipid biosynthetic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	7	all_cancers(14;2.23e-19)|all_epithelial(13;7.49e-22)|Breast(9;6.38e-17)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;2.15e-25)			ATGATCCCCAGCCTTCTGCGG	0.612													51	57					0	0	1	0	0	A	77775031	G	A	77775031	3	1	81	1	0	0	0	0	1	0	0	0	15936	971	34	2	106	2	THRSP	11	77775031	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	40793	77775031	57231485	8922	12538											
ALG8	79053	broad.mit.edu	37	11	77825382	77825382	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:77825382G>T	ENST00000376156.3	-	6	606	c.603C>A	c.(601-603)atC>atA	p.I201I	ALG8_ENST00000532552.2_Intron|ALG8_ENST00000299626.5_Silent_p.I201I	NM_001007027.2	NP_001007028.1	Q9BVK2	ALG8_HUMAN	ALG8, alpha-1,3-glucosyltransferase	201					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	alpha-1,3-mannosyltransferase activity|dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity			NS(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	30	all_cancers(14;3.62e-19)|all_epithelial(13;1.27e-21)|Breast(9;8.51e-17)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;9.66e-25)			CATAGAGGTAGATATGCTTGA	0.363													14	41					6.31663e-08	7.44777e-08	1	1	0	T	77825382	G	T	77825382	2	4	81	1	0	0	0	0	0	0	0	1	519	932	33	4		4	ALG8	11	77825382	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	50351	77825382	57181134	8923	12539											
KCTD21	283219	broad.mit.edu	37	11	77885145	77885145	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:77885145G>T	ENST00000340067.3	-	2	734	c.456C>A	c.(454-456)tcC>tcA	p.S152S	KCTD21-AS1_ENST00000600795.1_RNA	NM_001029859.1	NP_001025030.1	Q4G0X4	KCD21_HUMAN	potassium channel tetramerization domain containing 21	152						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|endometrium(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(2)	11	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.46e-24)			GGAAGAGGCAGGAGGTGCTGA	0.567													8	80					0.0381472	0.0389402	1	1	0	T	77885145	G	T	77885145	2	4	81	1	0	0	0	0	0	0	0	1	8153	987	35	4		4	KCTD21	11	77885145	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	59763	77885145	57121371	8924	12540											
KCTD21	283219	broad.mit.edu	37	11	77885172	77885172	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:77885172G>A	ENST00000340067.3	-	2	707	c.429C>T	c.(427-429)gtC>gtT	p.V143V	KCTD21-AS1_ENST00000600795.1_RNA	NM_001029859.1	NP_001025030.1	Q4G0X4	KCD21_HUMAN	potassium channel tetramerization domain containing 21	143						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|endometrium(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(2)	11	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.46e-24)			TGGCGTTGAAGACCTCCATGC	0.557													21	36					0	0	1	0	0	A	77885172	G	A	77885172	2	1	81	1	0	0	0	0	0	0	0	1	8153	929	33	2		2	KCTD21	11	77885172	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	27	77885172	57121344	8925	12541											
KCTD21	283219	broad.mit.edu	37	11	77885272	77885272	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:77885272G>A	ENST00000340067.3	-	2	607	c.329C>T	c.(328-330)gCc>gTc	p.A110V	KCTD21-AS1_ENST00000600795.1_RNA	NM_001029859.1	NP_001025030.1	Q4G0X4	KCD21_HUMAN	potassium channel tetramerization domain containing 21	110						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|endometrium(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(2)	11	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.46e-24)			GTTGAGCATGGCATTCTTCTC	0.602													16	25					0	0	1	0	0	A	77885272	G	A	77885272	3	1	81	1	0	0	0	0	1	0	0	0	8153	1203	42	2	457	2	KCTD21	11	77885272	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	100	77885272	57121244	8926	12542											
USP35	57558	broad.mit.edu	37	11	77918633	77918633	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:77918633G>T	ENST00000529308.1	+	8	1710	c.1449G>T	c.(1447-1449)aaG>aaT	p.K483N	USP35_ENST00000441408.2_Missense_Mutation_p.K69N|USP35_ENST00000526425.1_Missense_Mutation_p.K214N|USP35_ENST00000530535.1_Intron|USP35_ENST00000530267.1_Missense_Mutation_p.K51N	NM_020798.2	NP_065849.1	Q9P2H5	UBP35_HUMAN	ubiquitin specific peptidase 35	483					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1)	23	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)			TGATGACCAAGCTGCAGTGGC	0.587													10	88					0.0581538	0.0592525	1	1	0	T	77918633	G	T	77918633	3	4	81	1	0	0	0	0	1	0	0	0	17126	962	34	4	1475	4	USP35	11	77918633	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	33361	77918633	57087883	8927	12543											
USP35	57558	broad.mit.edu	37	11	77919936	77919936	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:77919936G>A	ENST00000529308.1	+	9	1780	c.1519G>A	c.(1519-1521)Gca>Aca	p.A507T	USP35_ENST00000441408.2_Missense_Mutation_p.A93T|USP35_ENST00000526425.1_Missense_Mutation_p.A238T|USP35_ENST00000530535.1_Intron|USP35_ENST00000530267.1_Missense_Mutation_p.A75T	NM_020798.2	NP_065849.1	Q9P2H5	UBP35_HUMAN	ubiquitin specific peptidase 35	507					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1)	23	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)			CTTCCTCTCCGCATCCTGGAC	0.627													45	65					0	0	1	0	0	A	77919936	G	A	77919936	3	1	81	1	0	0	0	0	1	0	0	0	17126	1087	38	1	1549	1	USP35	11	77919936	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1303	77919936	57086580	8928	12544											
USP35	57558	broad.mit.edu	37	11	77921330	77921330	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:77921330G>A	ENST00000529308.1	+	10	2690	c.2429G>A	c.(2428-2430)cGc>cAc	p.R810H	USP35_ENST00000441408.2_Missense_Mutation_p.R396H|USP35_ENST00000526425.1_Missense_Mutation_p.R541H|USP35_ENST00000530535.1_3'UTR|USP35_ENST00000530267.1_Missense_Mutation_p.R378H	NM_020798.2	NP_065849.1	Q9P2H5	UBP35_HUMAN	ubiquitin specific peptidase 35	810					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1)	23	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)			ACACTGCTGCGCTTCTCTTTC	0.642													49	51					0	0	1	0	0	A	77921330	G	A	77921330	3	1	81	1	0	0	0	0	1	0	0	0	17126	1087	38	1	2463	1	USP35	11	77921330	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1394	77921330	57085186	8929	12545											
USP35	57558	broad.mit.edu	37	11	77921496	77921496	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:77921496C>A	ENST00000529308.1	+	10	2856	c.2595C>A	c.(2593-2595)tgC>tgA	p.C865*	USP35_ENST00000441408.2_Nonsense_Mutation_p.C451*|USP35_ENST00000526425.1_Nonsense_Mutation_p.C596*|USP35_ENST00000530535.1_3'UTR|USP35_ENST00000530267.1_Nonsense_Mutation_p.C433*	NM_020798.2	NP_065849.1	Q9P2H5	UBP35_HUMAN	ubiquitin specific peptidase 35	865					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1)	23	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)			ACTACTACTGCTATGCCCGTG	0.627													11	144					1.08611e-07	1.27405e-07	1	1	0	A	77921496	C	A	77921496	4	1	81	1	0	0	0	0	0	1	0	0	17126	805	28	4	2629	4	USP35	11	77921496	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	166	77921496	57085020	8930	12546											
NARS2	79731	broad.mit.edu	37	11	78277319	78277319	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:78277319C>A	ENST00000281038.5	-	4	748		c.e4-1		NARS2_ENST00000528850.1_Splice_Site	NM_001243251.1|NM_024678.5	NP_001230180.1|NP_078954.4	Q96I59	SYNM_HUMAN	asparaginyl-tRNA synthetase 2, mitochondrial (putative)						asparaginyl-tRNA aminoacylation	mitochondrial matrix	asparagine-tRNA ligase activity|ATP binding|nucleic acid binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)	27	all_cancers(14;2.63e-17)|all_epithelial(13;1.85e-19)				L-Asparagine(DB00174)	TGGGGAAATCCTGCCAATAAA	0.363													28	32					4.59853e-10	5.59907e-10	1	1	0	A	78277319	C	A	78277319	5	1	81	1	0	0	0	0	0	0	1	0	10219	695	24	4	1105	4	NARS2	11	78277319	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	355823	78277319	56729197	8931	12547											
C11orf82	220042	broad.mit.edu	37	11	82644518	82644518	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:82644518C>A	ENST00000533655.1	+	6	2350	c.2138C>A	c.(2137-2139)cCt>cAt	p.P713H	C11orf82_ENST00000329143.3_Missense_Mutation_p.P412H|C11orf82_ENST00000525361.1_Intron|C11orf82_ENST00000430323.2_Missense_Mutation_p.P713H|C11orf82_ENST00000528759.1_3'UTR	NM_145018.3	NP_659455.3	Q8IXT1	NOXIN_HUMAN	chromosome 11 open reading frame 82	713					apoptosis|cell cycle arrest	cytoplasm|nucleus				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	33						GAAAGTCACCCTTCAGAGTCT	0.368													10	118					0.000673444	0.000721718	1	1	0	A	82644518	C	A	82644518	3	1	81	1	0	0	0	0	1	0	0	0	1670	681	24	4	2152	4	C11orf82	11	82644518	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	4367199	82644518	52361998	8932	12548											
C11orf82	220042	broad.mit.edu	37	11	82644869	82644869	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:82644869C>A	ENST00000533655.1	+	6	2701	c.2489C>A	c.(2488-2490)cCt>cAt	p.P830H	C11orf82_ENST00000329143.3_Missense_Mutation_p.P529H|C11orf82_ENST00000525361.1_Intron|C11orf82_ENST00000430323.2_Missense_Mutation_p.P830H|C11orf82_ENST00000528759.1_3'UTR	NM_145018.3	NP_659455.3	Q8IXT1	NOXIN_HUMAN	chromosome 11 open reading frame 82	830					apoptosis|cell cycle arrest	cytoplasm|nucleus				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	33						ATAAAAACACCTAGCCAGAAA	0.373													8	31					0.000274275	0.000297259	1	1	0	A	82644869	C	A	82644869	3	1	81	1	0	0	0	0	1	0	0	0	1670	681	24	4	2503	4	C11orf82	11	82644869	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	351	82644869	52361647	8933	12549											
ANKRD42	338699	broad.mit.edu	37	11	82936072	82936072	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:82936072A>C	ENST00000260047.6	+	6	1554	c.759A>C	c.(757-759)gaA>gaC	p.E253D	ANKRD42_ENST00000533342.1_Missense_Mutation_p.E254D|ANKRD42_ENST00000393392.2_Missense_Mutation_p.E226D|ANKRD42_ENST00000531895.1_Missense_Mutation_p.E254D			Q8N9B4	ANR42_HUMAN	ankyrin repeat domain 42	226										central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18						CTGAGTATGAAGGAAAAGACC	0.333													14	44					0	0	1	0	0	C	82936072	A	C	82936072	3	2	81	1	0	0	0	0	1	0	0	0	664	69	3	5	700	5	ANKRD42	11	82936072	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	291203	82936072	52070444	8934	12550											
CCDC90B	60492	broad.mit.edu	37	11	82991211	82991211	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:82991211C>T	ENST00000529689.1	-	2	627	c.193G>A	c.(193-195)Gca>Aca	p.A65T	CCDC90B_ENST00000529073.1_Missense_Mutation_p.A65T|CCDC90B_ENST00000529611.1_5'UTR|CCDC90B_ENST00000455220.2_Missense_Mutation_p.A56T|CCDC90B_ENST00000525503.1_5'UTR			Q9GZT6	CC90B_HUMAN	coiled-coil domain containing 90B	65						integral to membrane|mitochondrion				kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	10		Acute lymphoblastic leukemia(157;0.103)				TGAACCAATGCATGGGTATCA	0.388													10	112					0	0	1	0	0	T	82991211	C	T	82991211	3	4	81	1	0	0	0	0	1	0	0	0	2889	710	25	2	603	2	CCDC90B	11	82991211	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	55139	82991211	52015305	8935	12551											
SYTL2	54843	broad.mit.edu	37	11	85415995	85415995	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:85415995T>G	ENST00000359152.5	-	8	4717	c.4718A>C	c.(4717-4719)aAt>aCt	p.N1573T	SYTL2_ENST00000354566.3_Missense_Mutation_p.N1065T|SYTL2_ENST00000525423.1_Missense_Mutation_p.N1049T|SYTL2_ENST00000527523.1_Missense_Mutation_p.N695T|SYTL2_ENST00000525702.1_Missense_Mutation_p.N169T|SYTL2_ENST00000528231.1_Missense_Mutation_p.N727T|SYTL2_ENST00000524452.1_Missense_Mutation_p.N703T|SYTL2_ENST00000389960.4_Missense_Mutation_p.N703T|SYTL2_ENST00000533892.1_Missense_Mutation_p.N129T|SYTL2_ENST00000316356.4_Missense_Mutation_p.N728T|SYTL2_ENST00000389958.3_Missense_Mutation_p.N158T|SYTL2_ENST00000529581.1_Missense_Mutation_p.N169T	NM_206928.2	NP_996811.1	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2	727					intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		TAGGAAACTATTGCGCTTAAA	0.373													10	128					0	0	1	0	0	G	85415995	T	G	85415995	3	3	81	1	0	0	0	0	1	0	0	0	15540	1493	52	4	644	4	SYTL2	11	85415995	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	2424784	85415995	49590521	8936	12552											
SYTL2	54843	broad.mit.edu	37	11	85422207	85422207	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:85422207C>T	ENST00000359152.5	-	5	4316	c.4317G>A	c.(4315-4317)ccG>ccA	p.P1439P	SYTL2_ENST00000354566.3_Silent_p.P931P|SYTL2_ENST00000525423.1_Silent_p.P915P|SYTL2_ENST00000527523.1_Silent_p.P561P|SYTL2_ENST00000525702.1_Silent_p.P35P|SYTL2_ENST00000528231.1_Silent_p.P593P|SYTL2_ENST00000524452.1_Intron|SYTL2_ENST00000389960.4_Intron|SYTL2_ENST00000533892.1_Intron|SYTL2_ENST00000316356.4_Silent_p.P594P|SYTL2_ENST00000389958.3_Silent_p.P24P|SYTL2_ENST00000529581.1_Silent_p.P35P	NM_206928.2	NP_996811.1	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2	593					intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		TTAAAGAGCTCGGGCTCTTCT	0.423													64	95					0	0	1	0	0	T	85422207	C	T	85422207	2	4	81	1	0	0	0	0	0	0	0	1	15540	871	31	1		1	SYTL2	11	85422207	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	6212	85422207	49584309	8937	12553											
SYTL2	54843	broad.mit.edu	37	11	85435377	85435377	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:85435377G>T	ENST00000359152.5	-	1	3694	c.3695C>A	c.(3694-3696)aCc>aAc	p.T1232N	SYTL2_ENST00000354566.3_Missense_Mutation_p.T708N|SYTL2_ENST00000525423.1_Missense_Mutation_p.T708N|SYTL2_ENST00000527523.1_Intron|SYTL2_ENST00000528231.1_Intron|SYTL2_ENST00000524452.1_Intron|SYTL2_ENST00000389960.4_Intron|SYTL2_ENST00000316356.4_Intron	NM_206928.2	NP_996811.1	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2	393					intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		AGTTTTAATGGTCCCTATTTC	0.488													31	51					2.65835e-16	3.41045e-16	1	1	0	T	85435377	G	T	85435377	3	4	81	1	0	0	0	0	1	0	0	0	15540	1261	44	5	1747	5	SYTL2	11	85435377	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	13170	85435377	49571139	8938	12554											
SYTL2	54843	broad.mit.edu	37	11	85437295	85437295	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:85437295C>A	ENST00000359152.5	-	1	1776	c.1777G>T	c.(1777-1779)Gca>Tca	p.A593S	SYTL2_ENST00000354566.3_Missense_Mutation_p.A69S|SYTL2_ENST00000525423.1_Missense_Mutation_p.A69S|SYTL2_ENST00000527523.1_Intron|SYTL2_ENST00000528231.1_Intron|SYTL2_ENST00000524452.1_Intron|SYTL2_ENST00000389960.4_Intron|SYTL2_ENST00000316356.4_Intron	NM_206928.2	NP_996811.1	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2	105	Ser-rich.				intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		AGCACCTCTGCTTCATGGGTA	0.373													43	98					2.59497e-14	3.29116e-14	1	1	0	A	85437295	C	A	85437295	3	1	81	1	0	0	0	0	1	0	0	0	15540	797	28	4	3665	4	SYTL2	11	85437295	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1918	85437295	49569221	8939	12555											
SYTL2	54843	broad.mit.edu	37	11	85445108	85445108	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:85445108G>A	ENST00000316356.4	-	7	1828	c.1264C>T	c.(1264-1266)Cat>Tat	p.H422Y	SYTL2_ENST00000527523.1_Missense_Mutation_p.H373Y|SYTL2_ENST00000528231.1_Missense_Mutation_p.H421Y|SYTL2_ENST00000524452.1_Missense_Mutation_p.H421Y|SYTL2_ENST00000389960.4_Missense_Mutation_p.H421Y			Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2	421					intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		GAATGAGAATGCAGCCCATTA	0.378													59	76					0	0	1	0	0	A	85445108	G	A	85445108	3	1	81	1	0	0	0	0	1	0	0	0	15540	1319	46	2	4076	2	SYTL2	11	85445108	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	7813	85445108	49561408	8940	12556											
SYTL2	54843	broad.mit.edu	37	11	85445199	85445199	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:85445199C>T	ENST00000316356.4	-	7	1737	c.1173G>A	c.(1171-1173)tcG>tcA	p.S391S	SYTL2_ENST00000527523.1_Silent_p.S342S|SYTL2_ENST00000528231.1_Silent_p.S390S|SYTL2_ENST00000524452.1_Silent_p.S390S|SYTL2_ENST00000389960.4_Silent_p.S390S			Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2	390					intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		GATGAAAAAGCGAAGGCTTTC	0.398													9	125					0	0	1	0	0	T	85445199	C	T	85445199	2	4	81	1	0	0	0	0	0	0	0	1	15540	755	27	1		1	SYTL2	11	85445199	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	91	85445199	49561317	8941	12557											
CCDC83	220047	broad.mit.edu	37	11	85622381	85622381	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:85622381G>T	ENST00000280245.4	+	8	1242	c.730G>T	c.(730-732)Gca>Tca	p.A244S	CCDC83_ENST00000376067.1_Missense_Mutation_p.A145S|CCDC83_ENST00000529676.2_3'UTR|CCDC83_ENST00000342404.3_Missense_Mutation_p.A244S	NM_173556.3	NP_775827.2	Q8IWF9	CCD83_HUMAN	coiled-coil domain containing 83	244										breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|skin(3)|upper_aerodigestive_tract(2)	29		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)				TGAACTGGAAGCAGAAAATTT	0.333													26	72					7.01153e-11	8.62519e-11	1	1	0	T	85622381	G	T	85622381	3	4	81	1	0	0	0	0	1	0	0	0	2877	971	34	4	756	4	CCDC83	11	85622381	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	177182	85622381	49384135	8942	12558											
PICALM	8301	broad.mit.edu	37	11	85692981	85692981	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:85692981C>T	ENST00000526033.1	-	15	1877	c.1561G>A	c.(1561-1563)Gcc>Acc	p.A521T	PICALM_ENST00000356360.5_Missense_Mutation_p.A528T|PICALM_ENST00000393346.3_Missense_Mutation_p.A528T|PICALM_ENST00000532317.1_Missense_Mutation_p.A478T|PICALM_ENST00000528398.1_Missense_Mutation_p.A427T	NM_001206946.1|NM_007166.3	NP_001193875.1|NP_009097.2	Q13492	PICAL_HUMAN	phosphatidylinositol binding clathrin assembly protein	528					clathrin coat assembly|endosome transport|negative regulation of receptor-mediated endocytosis|positive regulation of transcription, DNA-dependent|receptor internalization|regulation of protein localization	clathrin coat|clathrin-coated vesicle|coated pit|Golgi apparatus|nucleus|postsynaptic membrane|presynaptic membrane	1-phosphatidylinositol binding|clathrin heavy chain binding			endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	19		Acute lymphoblastic leukemia(157;7.42e-07)|all_hematologic(158;0.00092)				GGGAGTTTGGCAACAGGAAGG	0.403			T	"MLLT10, MLL"	"TALL, AML, "								5	75					0	0	1	0	0	T	85692981	C	T	85692981	3	4	81	1	0	0	0	0	1	0	0	0	11928	710	25	2	428	2	PICALM	11	85692981	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	70600	85692981	49313535	8943	12559											
PICALM	8301	broad.mit.edu	37	11	85693047	85693047	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:85693047C>A	ENST00000526033.1	-	15	1812		c.e15-1		PICALM_ENST00000356360.5_Splice_Site|PICALM_ENST00000393346.3_Splice_Site|PICALM_ENST00000532317.1_Splice_Site|PICALM_ENST00000528398.1_Splice_Site	NM_001206946.1|NM_007166.3	NP_001193875.1|NP_009097.2	Q13492	PICAL_HUMAN	phosphatidylinositol binding clathrin assembly protein						clathrin coat assembly|endosome transport|negative regulation of receptor-mediated endocytosis|positive regulation of transcription, DNA-dependent|receptor internalization|regulation of protein localization	clathrin coat|clathrin-coated vesicle|coated pit|Golgi apparatus|nucleus|postsynaptic membrane|presynaptic membrane	1-phosphatidylinositol binding|clathrin heavy chain binding			endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	19		Acute lymphoblastic leukemia(157;7.42e-07)|all_hematologic(158;0.00092)				TCATCAAAGCCTTAAAGTTAC	0.408			T	"MLLT10, MLL"	"TALL, AML, "								9	74					1.76689e-08	2.10148e-08	1	1	0	A	85693047	C	A	85693047	5	1	81	1	0	0	0	0	0	0	1	0	11928	695	24	4	494	4	PICALM	11	85693047	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	66	85693047	49313469	8944	12560											
ME3	10873	broad.mit.edu	37	11	86158194	86158194	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:86158194G>T	ENST00000543262.1	-	12	1619	c.1293C>A	c.(1291-1293)tcC>tcA	p.S431S	RP11-317J19.1_ENST00000524610.1_RNA|ME3_ENST00000359636.2_Silent_p.S431S|ME3_ENST00000393324.3_Silent_p.S431S	NM_001161586.1	NP_001155058.1	Q16798	MAON_HUMAN	malic enzyme 3, NADP(+)-dependent, mitochondrial	431					aerobic respiration|malate metabolic process|oxygen metabolic process|pyruvate metabolic process	mitochondrial matrix	malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|metal ion binding|NAD binding			endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(2)|skin(3)|stomach(2)|urinary_tract(1)	27		Acute lymphoblastic leukemia(157;4.34e-06)|all_hematologic(158;0.00252)			NADH(DB00157)	GCTCGTGGAAGGAGGCCATGT	0.602													28	24					6.32553e-13	7.94418e-13	1	1	0	T	86158194	G	T	86158194	2	4	81	1	0	0	0	0	0	0	0	1	9469	987	35	4		4	ME3	11	86158194	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	465147	86158194	48848322	8945	12561											
ME3	10873	broad.mit.edu	37	11	86267742	86267742	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:86267742T>C	ENST00000543262.1	-	4	646	c.320A>G	c.(319-321)tAc>tGc	p.Y107C	RP11-317J19.1_ENST00000524610.1_RNA|ME3_ENST00000323418.6_Missense_Mutation_p.Y45C|ME3_ENST00000359636.2_Missense_Mutation_p.Y107C|ME3_ENST00000393324.3_Missense_Mutation_p.Y107C	NM_001161586.1	NP_001155058.1	Q16798	MAON_HUMAN	malic enzyme 3, NADP(+)-dependent, mitochondrial	107					aerobic respiration|malate metabolic process|oxygen metabolic process|pyruvate metabolic process	mitochondrial matrix	malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|metal ion binding|NAD binding			endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(2)|skin(3)|stomach(2)|urinary_tract(1)	27		Acute lymphoblastic leukemia(157;4.34e-06)|all_hematologic(158;0.00252)			NADH(DB00157)	GAGAATGATGTACCTTGTAAA	0.522													23	41					0	0	1	0	0	C	86267742	T	C	86267742	3	2	81	1	0	0	0	0	1	0	0	0	9469	1638	57	3	1542	3	ME3	11	86267742	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	109548	86267742	48738774	8946	12562											
FZD4	8322	broad.mit.edu	37	11	86663407	86663407	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:86663407C>T	ENST00000531380.1	-	2	696	c.391G>A	c.(391-393)Gtc>Atc	p.V131I	PRSS23_ENST00000533902.2_3'UTR	NM_012193.3	NP_036325.2	Q9ULV1	FZD4_HUMAN	frizzled family receptor 4	131	FZ.				canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|negative regulation of cell-substrate adhesion|neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|progesterone secretion|regulation of vascular endothelial growth factor receptor signaling pathway|substrate adhesion-dependent cell spreading|vasculogenesis|Wnt receptor signaling pathway, calcium modulating pathway	cell projection|cell surface|cytoplasm	cytokine binding|G-protein coupled receptor activity|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|Wnt receptor activity|Wnt-protein binding			breast(1)|kidney(1)|large_intestine(3)|lung(9)|prostate(6)|skin(1)	21		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				TCCTTCAGGACGGGTTCACAG	0.517													15	148					0	0	1	0	0	T	86663407	C	T	86663407	3	4	81	1	0	0	0	0	1	0	0	0	6167	536	19	1	1226	1	FZD4	11	86663407	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	395665	86663407	48343109	8947	12563											
TMEM135	65084	broad.mit.edu	37	11	87024485	87024485	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:87024485C>T	ENST00000340353.7	+	10	1091	c.889C>T	c.(889-891)Cgc>Tgc	p.R297C	TMEM135_ENST00000535167.1_Missense_Mutation_p.R180C|TMEM135_ENST00000532959.1_Missense_Mutation_p.R190C|TMEM135_ENST00000305494.5_Missense_Mutation_p.R319C	NM_001168724.1	NP_001162195.1	Q86UB9	TM135_HUMAN	transmembrane protein 135	319						integral to membrane				NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				TTGCTTCCTGCGCTGGATCAG	0.294													5	108					0	0	1	0	0	T	87024485	C	T	87024485	3	4	81	1	0	0	0	0	1	0	0	0	16111	768	27	1	997	1	TMEM135	11	87024485	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	361078	87024485	47982031	8948	12564											
GRM5	2915	broad.mit.edu	37	11	88242605	88242605	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:88242605G>A	ENST00000418177.2	-	10	3161	c.2794C>T	c.(2794-2796)Cgc>Tgc	p.R932C	GRM5-AS1_ENST00000526448.1_RNA|GRM5_ENST00000393297.1_Intron|GRM5_ENST00000305432.5_Missense_Mutation_p.R900C|GRM5_ENST00000305447.4_Missense_Mutation_p.R932C|GRM5_ENST00000455756.2_Missense_Mutation_p.R900C			P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	932					activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	ATGGACAGGCGCTGCCACAGG	0.597													19	22					0	0	1	0	0	A	88242605	G	A	88242605	3	1	81	1	0	0	0	0	1	0	0	0	6841	1087	38	1	848	1	GRM5	11	88242605	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1218120	88242605	46763911	8949	12565											
GRM5	2915	broad.mit.edu	37	11	88242657	88242657	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:88242657G>A	ENST00000418177.2	-	10	3109	c.2742C>T	c.(2740-2742)tcC>tcT	p.S914S	GRM5-AS1_ENST00000526448.1_RNA|GRM5_ENST00000393297.1_Intron|GRM5_ENST00000305432.5_Silent_p.S882S|GRM5_ENST00000305447.4_Silent_p.S914S|GRM5_ENST00000455756.2_Silent_p.S882S			P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	914					activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	CCCACGTGACGGATTTTCCAT	0.587													13	25					0	0	1	0	0	A	88242657	G	A	88242657	2	1	81	1	0	0	0	0	0	0	0	1	6841	1103	39	1		1	GRM5	11	88242657	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	52	88242657	46763859	8950	12566											
GRM5	2915	broad.mit.edu	37	11	88323889	88323889	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:88323889G>A	ENST00000418177.2	-	7	1937	c.1570C>T	c.(1570-1572)Cga>Tga	p.R524*	GRM5_ENST00000393297.1_Nonsense_Mutation_p.R524*|GRM5_ENST00000305432.5_Nonsense_Mutation_p.R524*|GRM5_ENST00000305447.4_Nonsense_Mutation_p.R524*|GRM5_ENST00000455756.2_Nonsense_Mutation_p.R524*			P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	524					activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	TCTCCCTTTCGGATCACCTAA	0.388													45	72					0	0	1	0	0	A	88323889	G	A	88323889	4	1	81	1	0	0	0	0	0	1	0	0	6841	1124	39	1	2084	1	GRM5	11	88323889	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	81232	88323889	46682627	8951	12567											
GRM5	2915	broad.mit.edu	37	11	88338068	88338068	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:88338068G>T	ENST00000418177.2	-	5	1579	c.1212C>A	c.(1210-1212)atC>atA	p.I404I	GRM5_ENST00000393297.1_Silent_p.I404I|GRM5_ENST00000305432.5_Silent_p.I404I|GRM5_ENST00000305447.4_Silent_p.I404I|GRM5_ENST00000455756.2_Silent_p.I404I			P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	404					activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	CCATCGAATAGATGGCGTTGA	0.458													8	59					0.00307968	0.00324365	1	1	0	T	88338068	G	T	88338068	2	4	81	1	0	0	0	0	0	0	0	1	6841	932	33	4		4	GRM5	11	88338068	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	14179	88338068	46668448	8952	12568											
TYR	7299	broad.mit.edu	37	11	88911510	88911510	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:88911510A>C	ENST00000263321.5	+	1	891	c.389A>C	c.(388-390)gAg>gCg	p.E130A	TYR_ENST00000526139.1_3'UTR	NM_000372.4	NP_000363.1	P14679	TYRO_HUMAN	tyrosinase	130					eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception	Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm	copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)			Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157)	AGTGCCCCAGAGAAGGACAAA	0.448													40	105					0	0	1	0	0	C	88911510	A	C	88911510	3	2	81	1	0	0	0	0	1	0	0	0	16875	304	11	5	391	5	TYR	11	88911510	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	573442	88911510	46095006	8953	12569											
TYR	7299	broad.mit.edu	37	11	88911756	88911756	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:88911756G>T	ENST00000263321.5	+	1	1137	c.635G>T	c.(634-636)aGa>aTa	p.R212I	TYR_ENST00000526139.1_3'UTR	NM_000372.4	NP_000363.1	P14679	TYRO_HUMAN	tyrosinase	212					eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception	Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm	copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)			Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157)	CCTTGGCATAGACTCTTCTTG	0.453													47	78					2.01872e-29	2.68905e-29	1	1	0	T	88911756	G	T	88911756	3	4	81	1	0	0	0	0	1	0	0	0	16875	942	33	4	637	4	TYR	11	88911756	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	246	88911756	46094760	8954	12570											
NOX4	50507	broad.mit.edu	37	11	89106614	89106614	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:89106614A>G	ENST00000535633.1	-	12	1359	c.1049T>C	c.(1048-1050)gTa>gCa	p.V350A	NOX4_ENST00000424319.1_Missense_Mutation_p.V350A|NOX4_ENST00000534731.1_Missense_Mutation_p.V374A|NOX4_ENST00000527626.1_Missense_Mutation_p.V208A|NOX4_ENST00000375979.3_Missense_Mutation_p.V67A|NOX4_ENST00000531342.1_Missense_Mutation_p.V67A|NOX4_ENST00000263317.4_Missense_Mutation_p.V374A|NOX4_ENST00000343727.5_Missense_Mutation_p.V350A|NOX4_ENST00000532825.1_Missense_Mutation_p.V350A|NOX4_ENST00000528341.1_Missense_Mutation_p.V349A|NOX4_ENST00000527956.1_Missense_Mutation_p.V350A|NOX4_ENST00000525196.1_Intron|NOX4_ENST00000413594.2_Missense_Mutation_p.V395A|NOX4_ENST00000542487.1_Missense_Mutation_p.V350A	NM_001143836.1|NM_016931.3	NP_001137308.1|NP_058627.1	Q9NPH5	NOX4_HUMAN	NADPH oxidase 4	374	FAD-binding FR-type.|Mediates interaction with TLR4.				cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation	endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus	electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|nucleotide binding|oxygen sensor activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2)	44		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)				CCAGTCTCCTACTATTTTAAG	0.274													32	93					0	0	1	0	0	G	89106614	A	G	89106614	3	3	81	1	0	0	0	0	1	0	0	0	10605	391	14	3	643	3	NOX4	11	89106614	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	194858	89106614	45899902	8955	12571											
NOX4	50507	broad.mit.edu	37	11	89182670	89182670	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:89182670C>T	ENST00000535633.1	-	4	525	c.215G>A	c.(214-216)aGa>aAa	p.R72K	NOX4_ENST00000424319.1_Missense_Mutation_p.R72K|NOX4_ENST00000534731.1_Missense_Mutation_p.R96K|NOX4_ENST00000527626.1_Intron|NOX4_ENST00000375979.3_Intron|NOX4_ENST00000531342.1_Intron|NOX4_ENST00000263317.4_Missense_Mutation_p.R96K|NOX4_ENST00000343727.5_Missense_Mutation_p.R72K|NOX4_ENST00000532825.1_Missense_Mutation_p.R72K|NOX4_ENST00000528341.1_Missense_Mutation_p.R71K|NOX4_ENST00000527956.1_Missense_Mutation_p.R72K|NOX4_ENST00000525196.1_Missense_Mutation_p.R96K|NOX4_ENST00000413594.2_Missense_Mutation_p.R117K|NOX4_ENST00000542487.1_Missense_Mutation_p.R72K	NM_001143836.1|NM_016931.3	NP_001137308.1|NP_058627.1	Q9NPH5	NOX4_HUMAN	NADPH oxidase 4	96	Ferric oxidoreductase.				cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation	endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus	electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|nucleotide binding|oxygen sensor activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2)	44		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)				ATCCAACAATCTCCTGGTTCT	0.303													18	28					0	0	1	0	0	T	89182670	C	T	89182670	3	4	81	1	0	0	0	0	1	0	0	0	10605	913	32	2	1509	2	NOX4	11	89182670	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	76056	89182670	45823846	8956	12572											
FOLH1B	219595	broad.mit.edu	37	11	89392808	89392808	+	RNA	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:89392808C>T	ENST00000532352.1	+	0	631							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B						proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						CGGTTGGAATCTTCCTGGAGG	0.512													10	57					0	0	1	0	0	T	89392808	C	T	89392808	1	4	81	0	1	0	0	0	0	0	0	0	6013	928	32	2		2	FOLH1B	11	89392808	RNA	SNP	C	TCGA-DU-6392-01A-11D-1705-08	210138	89392808	45613708	8957	12573											
NAALAD2	10003	broad.mit.edu	37	11	89911126	89911126	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:89911126G>A	ENST00000534061.1	+	16	1929	c.1699G>A	c.(1699-1701)Gct>Act	p.A567T	NAALAD2_ENST00000375944.3_Intron|NAALAD2_ENST00000321955.4_Missense_Mutation_p.A534T	NM_005467.3	NP_005458.1	Q9Y3Q0	NALD2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	567	NAALADase.				proteolysis	integral to membrane	carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				ACTTTCTGTGGCTCAATTACG	0.358													11	102					0	0	1	0	0	A	89911126	G	A	89911126	3	1	81	1	0	0	0	0	1	0	0	0	10176	1203	42	2	1761	2	NAALAD2	11	89911126	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	518318	89911126	45095390	8958	12574											
FAT3	120114	broad.mit.edu	37	11	92086202	92086202	+	Silent	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:92086202T>G	ENST00000298047.6	+	1	941	c.924T>G	c.(922-924)ccT>ccG	p.P308P	FAT3_ENST00000409404.2_Silent_p.P308P|FAT3_ENST00000541502.1_Silent_p.P308P|FAT3_ENST00000525166.1_Silent_p.P158P			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	308	Cadherin 3.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CTGGGGATCCTTTAGATCAGT	0.453										TCGA Ovarian(4;0.039)			4	44					0	0	1	0	0	G	92086202	T	G	92086202	2	3	81	1	0	0	0	0	0	0	0	1	5724	1596	56	5		5	FAT3	11	92086202	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	2175076	92086202	42920314	8959	12575											
FAT3	120114	broad.mit.edu	37	11	92087394	92087394	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:92087394C>G	ENST00000298047.6	+	1	2133	c.2116C>G	c.(2116-2118)Ctg>Gtg	p.L706V	FAT3_ENST00000409404.2_Missense_Mutation_p.L706V|FAT3_ENST00000541502.1_Missense_Mutation_p.L706V|FAT3_ENST00000525166.1_Missense_Mutation_p.L556V			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	706					homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				AAATGGGAAACTGAATCTGGA	0.398										TCGA Ovarian(4;0.039)			6	126					0	0	1	0	0	G	92087394	C	G	92087394	3	3	81	1	0	0	0	0	1	0	0	0	5724	564	20	4	2118	4	FAT3	11	92087394	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1192	92087394	42919122	8960	12576											
FAT3	120114	broad.mit.edu	37	11	92534102	92534102	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:92534102C>T	ENST00000298047.6	+	9	7940	c.7923C>T	c.(7921-7923)agC>agT	p.S2641S	FAT3_ENST00000409404.2_Silent_p.S2641S|FAT3_ENST00000525166.1_Silent_p.S2491S			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2641	Cadherin 24.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	p.S2641S(2)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CCCTCTATAGCGAGGCCTCTG	0.473										TCGA Ovarian(4;0.039)			4	15					0	0	1	0	0	T	92534102	C	T	92534102	2	4	81	1	0	0	0	0	0	0	0	1	5724	767	27	1		1	FAT3	11	92534102	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	446708	92534102	42472414	8961	12577											
FAT3	120114	broad.mit.edu	37	11	92577645	92577645	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:92577645G>A	ENST00000298047.6	+	18	11129	c.11112G>A	c.(11110-11112)gcG>gcA	p.A3704A	FAT3_ENST00000409404.2_Silent_p.A3704A|FAT3_ENST00000533797.1_Silent_p.A39A|FAT3_ENST00000525166.1_Silent_p.A3554A			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3704					homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TGCTGTTTGCGGTGGAGATGC	0.567										TCGA Ovarian(4;0.039)			9	15					0	0	1	0	0	A	92577645	G	A	92577645	2	1	81	1	0	0	0	0	0	0	0	1	5724	1103	39	1		1	FAT3	11	92577645	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	43543	92577645	42428871	8962	12578											
FAT3	120114	broad.mit.edu	37	11	92600234	92600234	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:92600234C>T	ENST00000298047.6	+	21	12003	c.11986C>T	c.(11986-11988)Ctg>Ttg	p.L3996L	FAT3_ENST00000409404.2_Silent_p.L3996L|FAT3_ENST00000533797.1_Silent_p.L331L|FAT3_ENST00000525166.1_Silent_p.L3846L			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3996	Laminin G-like.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TAACAATGAGCTGCCGCTGCA	0.637										TCGA Ovarian(4;0.039)			4	5					0	0	1	0	0	T	92600234	C	T	92600234	2	4	81	1	0	0	0	0	0	0	0	1	5724	796	28	2		2	FAT3	11	92600234	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	22589	92600234	42406282	8963	12579											
SLC36A4	120103	broad.mit.edu	37	11	92881927	92881927	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:92881927G>T	ENST00000326402.4	-	11	1421	c.1291C>A	c.(1291-1293)Ctg>Atg	p.L431M	SLC36A4_ENST00000529184.1_Missense_Mutation_p.L296M	NM_152313.2	NP_689526.2	Q6YBV0	S36A4_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 4	431					L-alanine transport|proline transport|tryptophan transport	integral to membrane	symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	25		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				AAAGGTGGCAGGATTAGGGCC	0.393													7	52					0.0477658	0.0487066	1	1	0	T	92881927	G	T	92881927	3	4	81	1	0	0	0	0	1	0	0	0	14651	991	35	4	227	4	SLC36A4	11	92881927	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	281693	92881927	42124589	8964	12580											
SLC36A4	120103	broad.mit.edu	37	11	92917608	92917609	+	Translation_Start_Site	INS	-	-	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:92917608_92917609insT	ENST00000529184.1	-	0	465_466				SLC36A4_ENST00000326402.4_Frame_Shift_Ins_p.N86fs			Q6YBV0	S36A4_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 4						L-alanine transport|proline transport|tryptophan transport	integral to membrane	symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	25		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				CTATGCCTGCATTTTTTATTGC	0.351													111	144	---	---	---	---						T	92917609	-	T	92917608	6	5	81	1	0	1	1	0	0	0	0	0	14651	214	8	0		0	SLC36A4	11	92917608	Translation_Start_Site	INS	-	TCGA-DU-6392-01A-11D-1705-08	35681	92917608	42088908	8965	12581											
TAF1D	79101	broad.mit.edu	37	11	93470275	93470275	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:93470275T>G	ENST00000448108.2	-	4	1240	c.590A>C	c.(589-591)aAa>aCa	p.K197T		NM_024116.3	NP_077021.1	Q9H5J8	TAF1D_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, D, 41kDa	197					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			large_intestine(1)|lung(3)|prostate(1)|skin(2)	7						ATCCAAAAATTTGTATCTACG	0.308													11	14					0	0	1	0	0	G	93470275	T	G	93470275	3	3	81	1	0	0	0	0	1	0	0	0	15579	1841	64	5	258	5	TAF1D	11	93470275	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	552667	93470275	41536241	8966	12582											
HEPHL1	341208	broad.mit.edu	37	11	93800872	93800872	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:93800872C>A	ENST00000315765.9	+	5	1027	c.1019C>A	c.(1018-1020)cCt>cAt	p.P340H		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	340	Plastocyanin-like 2.				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				GCCGAGAATCCTGGGAAGTGG	0.453													8	89					1.26484e-09	1.5311e-09	1	1	0	A	93800872	C	A	93800872	3	1	81	1	0	0	0	0	1	0	0	0	7096	681	24	4	1037	4	HEPHL1	11	93800872	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	330597	93800872	41205644	8967	12583											
HEPHL1	341208	broad.mit.edu	37	11	93821949	93821949	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:93821949G>A	ENST00000315765.9	+	12	2117	c.2109G>A	c.(2107-2109)atG>atA	p.M703I		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	703	Plastocyanin-like 4.				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				GTGCCACCATGCCCCACCTCT	0.483													10	24					0	0	1	0	0	A	93821949	G	A	93821949	3	1	81	1	0	0	0	0	1	0	0	0	7096	1319	46	2	2155	2	HEPHL1	11	93821949	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	21077	93821949	41184567	8968	12584											
HEPHL1	341208	broad.mit.edu	37	11	93826743	93826743	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:93826743A>G	ENST00000315765.9	+	13	2379	c.2371A>G	c.(2371-2373)Acg>Gcg	p.T791A		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	791	Plastocyanin-like 5.				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				CAGGGAATATACGGATGGAGA	0.463													60	61					0	0	1	0	0	G	93826743	A	G	93826743	3	3	81	1	0	0	0	0	1	0	0	0	7096	391	14	3	2421	3	HEPHL1	11	93826743	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	4794	93826743	41179773	8969	12585											
HEPHL1	341208	broad.mit.edu	37	11	93837825	93837825	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:93837825G>A	ENST00000315765.9	+	16	2822	c.2814G>A	c.(2812-2814)tgG>tgA	p.W938*		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	938	Plastocyanin-like 6.				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				ATGAATCCTGGTATCTGGATG	0.358													36	70					0	0	1	0	0	A	93837825	G	A	93837825	4	1	81	1	0	0	0	0	0	1	0	0	7096	1270	44	2	2876	2	HEPHL1	11	93837825	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	11082	93837825	41168691	8970	12586											
GPR83	10888	broad.mit.edu	37	11	94113341	94113341	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:94113341C>T	ENST00000243673.2	-	4	1417	c.1246G>A	c.(1246-1248)Gtg>Atg	p.V416M	GPR83_ENST00000539203.2_Missense_Mutation_p.V374M	NM_016540.3	NP_057624.3	Q9NYM4	GPR83_HUMAN	G protein-coupled receptor 83	416						integral to membrane|plasma membrane	neuropeptide Y receptor activity	p.V416L(1)		NS(1)|breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				ATGGGTTCCACAGATGACAGG	0.557													7	38					0	0	1	0	0	T	94113341	C	T	94113341	3	4	81	1	0	0	0	0	1	0	0	0	6753	478	17	2	29	2	GPR83	11	94113341	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	275516	94113341	40893175	8971	12587											
GPR83	10888	broad.mit.edu	37	11	94126758	94126758	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:94126758C>T	ENST00000243673.2	-	3	711	c.540G>A	c.(538-540)cgG>cgA	p.R180R	GPR83_ENST00000539203.2_Silent_p.R138R	NM_016540.3	NP_057624.3	Q9NYM4	GPR83_HUMAN	G protein-coupled receptor 83	180						integral to membrane|plasma membrane	neuropeptide Y receptor activity			NS(1)|breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				TGATTGAGATCCGGGGTTTCA	0.463													18	30					0	0	1	0	0	T	94126758	C	T	94126758	2	4	81	1	0	0	0	0	0	0	0	1	6753	842	30	2		2	GPR83	11	94126758	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	13417	94126758	40879758	8972	12588											
MRE11A	4361	broad.mit.edu	37	11	94200986	94200986	+	Missense_Mutation	SNP	C	C	T	rs140528613		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:94200986C>T	ENST00000323929.3	-	10	1313	c.1091G>A	c.(1090-1092)cGa>cAa	p.R364Q	MRE11A_ENST00000393241.4_Missense_Mutation_p.R364Q|MRE11A_ENST00000407439.3_Missense_Mutation_p.R367Q|MRE11A_ENST00000323977.3_Missense_Mutation_p.R364Q	NM_005591.3	NP_005582.1	P49959	MRE11_HUMAN	MRE11 meiotic recombination 11 homolog A (S. cerevisiae)	364					DNA duplex unwinding|double-strand break repair via homologous recombination|double-strand break repair via nonhomologous end joining|negative regulation of DNA endoreduplication|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|sister chromatid cohesion|telomere maintenance via telomerase	Mre11 complex|nucleoplasm	3'-5' exonuclease activity|double-stranded DNA binding|manganese ion binding|protein C-terminus binding|single-stranded DNA specific endodeoxyribonuclease activity			breast(5)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	29		Acute lymphoblastic leukemia(157;2.37e-05)|all_hematologic(158;0.00824)				TACTCGCAGTCGTACAAGAGG	0.328								Homologous recombination	Ataxia-Telangiectasia-Like Disorder				32	36					0	0	1	0	0	T	94200986	C	T	94200986	3	4	81	1	0	0	0	0	1	0	0	0	9808	884	31	1	1079	1	MRE11A	11	94200986	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	74228	94200986	40805530	8973	12589											
MRE11A	4361	broad.mit.edu	37	11	94224008	94224008	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:94224008C>A	ENST00000323929.3	-	3	366	c.144G>T	c.(142-144)caG>caT	p.Q48H	MRE11A_ENST00000393241.4_Missense_Mutation_p.Q48H|MRE11A_ENST00000407439.3_Missense_Mutation_p.Q51H|MRE11A_ENST00000540013.1_Missense_Mutation_p.Q48H|MRE11A_ENST00000323977.3_Missense_Mutation_p.Q48H|MRE11A_ENST00000536144.1_5'UTR	NM_005591.3	NP_005582.1	P49959	MRE11_HUMAN	MRE11 meiotic recombination 11 homolog A (S. cerevisiae)	48					DNA duplex unwinding|double-strand break repair via homologous recombination|double-strand break repair via nonhomologous end joining|negative regulation of DNA endoreduplication|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|sister chromatid cohesion|telomere maintenance via telomerase	Mre11 complex|nucleoplasm	3'-5' exonuclease activity|double-stranded DNA binding|manganese ion binding|protein C-terminus binding|single-stranded DNA specific endodeoxyribonuclease activity			breast(5)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	29		Acute lymphoblastic leukemia(157;2.37e-05)|all_hematologic(158;0.00824)				CTTCATTTTCCTGGGCAAGTC	0.333								Homologous recombination	Ataxia-Telangiectasia-Like Disorder				35	78					1.03484e-13	1.30707e-13	1	1	0	A	94224008	C	A	94224008	3	1	81	1	0	0	0	0	1	0	0	0	9808	680	24	4	2054	4	MRE11A	11	94224008	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	23022	94224008	40782508	8974	12590											
ANKRD49	54851	broad.mit.edu	37	11	94231653	94231653	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:94231653C>A	ENST00000544612.1	+	3	1172	c.675C>A	c.(673-675)ctC>ctA	p.L225L	ANKRD49_ENST00000538535.1_3'UTR|ANKRD49_ENST00000544253.1_3'UTR|ANKRD49_ENST00000302755.4_Silent_p.L225L	NM_017704.2	NP_060174.2	Q8WVL7	ANR49_HUMAN	ankyrin repeat domain 49	225					positive regulation of transcription, DNA-dependent					autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|urinary_tract(1)	12		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				ATCACTACCTCTTTGAAATTG	0.398													9	106					9.70103e-10	1.17698e-09	1	1	0	A	94231653	C	A	94231653	2	1	81	1	0	0	0	0	0	0	0	1	669	900	32	4		4	ANKRD49	11	94231653	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	7645	94231653	40774863	8975	12591											
KDM4D	55693	broad.mit.edu	37	11	94730996	94730996	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:94730996C>T	ENST00000335080.5	+	3	1292	c.460C>T	c.(460-462)Ctt>Ttt	p.L154F	KDM4D_ENST00000536741.1_Missense_Mutation_p.L154F	NM_018039.2	NP_060509.2	Q6B0I6	KDM4D_HUMAN	lysine (K)-specific demethylase 4D	154	JmjC.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(16)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						ACAATGGAATCTTGGGCACCT	0.438													40	37					0	0	1	0	0	T	94730996	C	T	94730996	3	4	81	1	0	0	0	0	1	0	0	0	8175	913	32	2	462	2	KDM4D	11	94730996	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	499343	94730996	40275520	8976	12592											
KDM4D	55693	broad.mit.edu	37	11	94731271	94731271	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:94731271G>T	ENST00000335080.5	+	3	1567	c.735G>T	c.(733-735)aaG>aaT	p.K245N	KDM4D_ENST00000536741.1_Missense_Mutation_p.K245N	NM_018039.2	NP_060509.2	Q6B0I6	KDM4D_HUMAN	lysine (K)-specific demethylase 4D	245	JmjC.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(16)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						TGCGGCACAAGGTGGCCCTCA	0.592													10	45					0.000442599	0.000477972	1	1	0	T	94731271	G	T	94731271	3	4	81	1	0	0	0	0	1	0	0	0	8175	991	35	4	737	4	KDM4D	11	94731271	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	275	94731271	40275245	8977	12593											
SESN3	143686	broad.mit.edu	37	11	94918426	94918426	+	Silent	SNP	G	G	A	rs138689867		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:94918426G>A	ENST00000536441.1	-	5	1092	c.756C>T	c.(754-756)aaC>aaT	p.N252N	RP11-712B9.2_ENST00000534891.1_RNA|RP11-712B9.2_ENST00000534864.1_RNA|SESN3_ENST00000416495.2_Silent_p.N252N|SESN3_ENST00000278499.2_Silent_p.N113N|SESN3_ENST00000393234.1_Silent_p.N252N	NM_001271594.1|NM_144665.2	NP_001258523.1|NP_653266.2	P58005	SESN3_HUMAN	sestrin 3	252					cell cycle arrest	nucleus				endometrium(5)|large_intestine(6)|lung(3)|skin(1)|stomach(1)	16		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)		BRCA - Breast invasive adenocarcinoma(274;0.234)		TAACCCCAAAGTTGCTGCCTG	0.313													89	130					0	0	1	0	0	A	94918426	G	A	94918426	2	1	81	1	0	0	0	0	0	0	0	1	14180	1020	36	2		2	SESN3	11	94918426	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	187155	94918426	40088090	8978	12594											
CEP57	9702	broad.mit.edu	37	11	95546134	95546134	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:95546134C>T	ENST00000325542.5	+	3	479	c.241C>T	c.(241-243)Cga>Tga	p.R81*	CEP57_ENST00000538658.1_Nonsense_Mutation_p.R81*|CEP57_ENST00000536587.1_3'UTR|CEP57_ENST00000325486.5_Nonsense_Mutation_p.R81*|CEP57_ENST00000541150.1_Nonsense_Mutation_p.R72*|CEP57_ENST00000537677.1_Nonsense_Mutation_p.R54*	NM_001243776.1|NM_014679.4	NP_001230705.1|NP_055494.2	Q86XR8	CEP57_HUMAN	centrosomal protein 57kDa	81	centrosome localization domain (CLD) (By similarity).				fibroblast growth factor receptor signaling pathway|G2/M transition of mitotic cell cycle|protein import into nucleus, translocation|spermatid development	centrosome|cytosol|Golgi apparatus|microtubule|nucleus	fibroblast growth factor binding|protein homodimerization activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	13		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				AGATAAGATTCGACGCTTGGA	0.368									Mosaic Variegated Aneuploidy Syndrome				32	58					0	0	1	0	0	T	95546134	C	T	95546134	4	4	81	1	0	0	0	0	0	1	0	0	3278	876	31	1	251	1	CEP57	11	95546134	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	627708	95546134	39460382	8979	12595											
CEP57	9702	broad.mit.edu	37	11	95564323	95564323	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:95564323G>T	ENST00000325542.5	+	11	1644	c.1406G>T	c.(1405-1407)aGa>aTa	p.R469I	CEP57_ENST00000325486.5_Missense_Mutation_p.R443I|CEP57_ENST00000541150.1_Missense_Mutation_p.R460I|CEP57_ENST00000537677.1_Missense_Mutation_p.R442I	NM_001243776.1|NM_014679.4	NP_001230705.1|NP_055494.2	Q86XR8	CEP57_HUMAN	centrosomal protein 57kDa	469	Mediates interaction with microtubules (By similarity).				fibroblast growth factor receptor signaling pathway|G2/M transition of mitotic cell cycle|protein import into nucleus, translocation|spermatid development	centrosome|cytosol|Golgi apparatus|microtubule|nucleus	fibroblast growth factor binding|protein homodimerization activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	13		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				ATGAAACTGAGACCTGGAGAA	0.368									Mosaic Variegated Aneuploidy Syndrome				6	46					2.0095e-06	2.30238e-06	1	1	0	T	95564323	G	T	95564323	3	4	81	1	0	0	0	0	1	0	0	0	3278	942	33	4	1448	4	CEP57	11	95564323	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	18189	95564323	39442193	8980	12596											
MTMR2	8898	broad.mit.edu	37	11	95582927	95582928	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:95582927_95582928insT	ENST00000393223.3	-	11	1349_1350	c.687_688insA	c.(685-690)aaatacfs	p.Y230fs	MTMR2_ENST00000352297.7_Frame_Shift_Ins_p.Y230fs|MTMR2_ENST00000409459.1_Frame_Shift_Ins_p.Y230fs|MTMR2_ENST00000346299.5_Frame_Shift_Ins_p.Y302fs	NM_001243571.1|NM_201278.2	NP_001230500.1|NP_958435.1	Q13614	MTMR2_HUMAN	myotubularin related protein 2	302	Myotubularin phosphatase.					nucleus	inositol or phosphatidylinositol phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	19		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				GCTTGAAGGTATTTTTCATCTT	0.441													77	130	---	---	---	---						T	95582928	-	T	95582927	7	5	81	1	0	1	1	0	0	0	0	0	9992	449	16	0	1055	0	MTMR2	11	95582927	Frame_Shift_Ins	INS	-	TCGA-DU-6392-01A-11D-1705-08	18604	95582927	39423589	8981	12597											
MTMR2	8898	broad.mit.edu	37	11	95591744	95591744	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:95591744G>T	ENST00000393223.3	-	8	967	c.305C>A	c.(304-306)tCc>tAc	p.S102Y	MTMR2_ENST00000484818.1_5'UTR|MTMR2_ENST00000352297.7_Missense_Mutation_p.S102Y|MTMR2_ENST00000346299.5_Missense_Mutation_p.S174Y|MTMR2_ENST00000409459.1_Missense_Mutation_p.S102Y	NM_001243571.1|NM_201278.2	NP_001230500.1|NP_958435.1	Q13614	MTMR2_HUMAN	myotubularin related protein 2	174	GRAM.					nucleus	inositol or phosphatidylinositol phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	19		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				CTCAAATATGGATCTTCTTGT	0.323													60	74					3.58576e-35	4.80222e-35	1	1	0	T	95591744	G	T	95591744	3	4	81	1	0	0	0	0	1	0	0	0	9992	1174	41	5	1450	5	MTMR2	11	95591744	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	8817	95591744	39414772	8982	12598											
CCDC82	79780	broad.mit.edu	37	11	96092318	96092318	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:96092318C>T	ENST00000278520.5	-	8	1833	c.1405G>A	c.(1405-1407)Gcc>Acc	p.A469T	CCDC82_ENST00000542662.1_Missense_Mutation_p.A469T|CCDC82_ENST00000423339.2_Missense_Mutation_p.A469T			Q8N4S0	CCD82_HUMAN	coiled-coil domain containing 82	469							protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)		BRCA - Breast invasive adenocarcinoma(274;0.154)		GTACGGCTGGCACAAATTCTG	0.328													12	31					0	0	1	0	0	T	96092318	C	T	96092318	3	4	81	1	0	0	0	0	1	0	0	0	2876	710	25	2	237	2	CCDC82	11	96092318	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	500574	96092318	38914198	8983	12599											
CCDC82	79780	broad.mit.edu	37	11	96098203	96098203	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:96098203C>T	ENST00000278520.5	-	7	1749	c.1321G>A	c.(1321-1323)Gga>Aga	p.G441R	CCDC82_ENST00000542662.1_Missense_Mutation_p.G441R|CCDC82_ENST00000423339.2_Missense_Mutation_p.G441R			Q8N4S0	CCD82_HUMAN	coiled-coil domain containing 82	441							protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)		BRCA - Breast invasive adenocarcinoma(274;0.154)		TACAACTCTCCTGATAAATGC	0.333													8	60					0	0	1	0	0	T	96098203	C	T	96098203	3	4	81	1	0	0	0	0	1	0	0	0	2876	690	24	2	325	2	CCDC82	11	96098203	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	5885	96098203	38908313	8984	12600											
CCDC82	79780	broad.mit.edu	37	11	96106557	96106557	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:96106557A>C	ENST00000278520.5	-	5	1494	c.1066T>G	c.(1066-1068)Ttt>Gtt	p.F356V	CCDC82_ENST00000542662.1_Missense_Mutation_p.F356V|CCDC82_ENST00000423339.2_Missense_Mutation_p.F356V			Q8N4S0	CCD82_HUMAN	coiled-coil domain containing 82	356							protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)		BRCA - Breast invasive adenocarcinoma(274;0.154)		GTTCCCAGAAAAGATTCATCT	0.269													46	41					0	0	1	0	0	C	96106557	A	C	96106557	3	2	81	1	0	0	0	0	1	0	0	0	2876	14	1	5	588	5	CCDC82	11	96106557	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	8354	96106557	38899959	8985	12601											
CCDC82	79780	broad.mit.edu	37	11	96117716	96117716	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:96117716C>T	ENST00000278520.5	-	3	624	c.196G>A	c.(196-198)Gag>Aag	p.E66K	CCDC82_ENST00000542662.1_Missense_Mutation_p.E66K|CCDC82_ENST00000423339.2_Missense_Mutation_p.E66K			Q8N4S0	CCD82_HUMAN	coiled-coil domain containing 82	66							protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)		BRCA - Breast invasive adenocarcinoma(274;0.154)		CTATCAAGCTCTTCATCATTT	0.338													50	50					0	0	1	0	0	T	96117716	C	T	96117716	3	4	81	1	0	0	0	0	1	0	0	0	2876	922	32	2	1466	2	CCDC82	11	96117716	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	11159	96117716	38888800	8986	12602											
CCDC82	79780	broad.mit.edu	37	11	96117847	96117847	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:96117847G>A	ENST00000278520.5	-	3	493	c.65C>T	c.(64-66)tCt>tTt	p.S22F	CCDC82_ENST00000542662.1_Missense_Mutation_p.S22F|CCDC82_ENST00000423339.2_Missense_Mutation_p.S22F			Q8N4S0	CCD82_HUMAN	coiled-coil domain containing 82	22							protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)		BRCA - Breast invasive adenocarcinoma(274;0.154)		ATCAACTCGAGATTTCTGCTC	0.348													20	29					0	0	1	0	0	A	96117847	G	A	96117847	3	1	81	1	0	0	0	0	1	0	0	0	2876	942	33	2	1597	2	CCDC82	11	96117847	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	131	96117847	38888669	8987	12603											
JRKL	8690	broad.mit.edu	37	11	96125218	96125218	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:96125218G>T	ENST00000458427.1	+	1	2061	c.1405G>T	c.(1405-1407)Gaa>Taa	p.E469*	JRKL_ENST00000332349.4_Nonsense_Mutation_p.E469*|JRKL_ENST00000546177.1_Intron	NM_003772.3	NP_003763.2	Q9Y4A0	JERKL_HUMAN	jerky homolog-like (mouse)	469					central nervous system development|regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding	p.E469*(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)		BRCA - Breast invasive adenocarcinoma(274;0.148)		GGAGGAAATAGAACTAATTCC	0.403													21	26					2.4624e-09	2.97042e-09	1	1	0	T	96125218	G	T	96125218	4	4	81	1	0	0	0	0	0	1	0	0	8009	943	33	4	1407	4	JRKL	11	96125218	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	7371	96125218	38881298	8988	12604											
CNTN5	53942	broad.mit.edu	37	11	99827614	99827614	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:99827614G>T	ENST00000524871.1	+	8	1040	c.750G>T	c.(748-750)gaG>gaT	p.E250D	CNTN5_ENST00000527185.1_Missense_Mutation_p.E250D|CNTN5_ENST00000418526.2_Missense_Mutation_p.E176D|CNTN5_ENST00000528682.1_Missense_Mutation_p.E250D|CNTN5_ENST00000279463.3_Missense_Mutation_p.E250D	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	250	Ig-like C2-type 2.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		TCTCCCAGGAGACAGGCAACC	0.428													24	48					6.32553e-13	7.94418e-13	1	1	0	T	99827614	G	T	99827614	3	4	81	1	0	0	0	0	1	0	0	0	3667	933	33	4	772	4	CNTN5	11	99827614	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	3702396	99827614	35178902	8989	12605											
TMEM133	83935	broad.mit.edu	37	11	100863304	100863304	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:100863304T>C	ENST00000303130.2	+	1	494	c.265T>C	c.(265-267)Tca>Cca	p.S89P		NM_032021.2	NP_114410.1	Q9H2Q1	TM133_HUMAN	transmembrane protein 133	89						integral to membrane				kidney(2)|large_intestine(1)|lung(1)|prostate(1)	5		Acute lymphoblastic leukemia(157;0.000869)|all_hematologic(158;0.014)		BRCA - Breast invasive adenocarcinoma(274;0.0675)		TATCGAGTATTCATCAACTGG	0.403													53	137					0	0	1	0	0	C	100863304	T	C	100863304	3	2	81	1	0	0	0	0	1	0	0	0	16109	1783	62	3	267	3	TMEM133	11	100863304	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	1035690	100863304	34143212	8990	12606											
PGR	5241	broad.mit.edu	37	11	100909896	100909896	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:100909896G>A	ENST00000325455.5	-	8	4206	c.2753C>T	c.(2752-2754)cCc>cTc	p.P918L	PGR_ENST00000534013.1_Missense_Mutation_p.P324L|PGR_ENST00000263463.5_Missense_Mutation_p.P816L	NM_000926.4|NM_001202474.1|NM_001271162.1	NP_000917.3|NP_001189403.1|NP_001258091.1	P06401	PRGR_HUMAN	progesterone receptor	918	Steroid-binding.				cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)	CAATATCTTGGGTAATTGTGC	0.353													21	59					0	0	1	0	0	A	100909896	G	A	100909896	3	1	81	1	0	0	0	0	1	0	0	0	11853	1232	43	2	52	2	PGR	11	100909896	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	46592	100909896	34096620	8991	12607											
PGR	5241	broad.mit.edu	37	11	100998621	100998621	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:100998621G>A	ENST00000325455.5	-	1	2634	c.1181C>T	c.(1180-1182)gCg>gTg	p.A394V	PGR_ENST00000534013.1_Intron|PGR_ENST00000263463.5_Missense_Mutation_p.A394V	NM_000926.4|NM_001202474.1|NM_001271162.1	NP_000917.3|NP_001189403.1|NP_001258091.1	P06401	PRGR_HUMAN	progesterone receptor	394	Modulating, Pro-Rich.				cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)	GGAGGCCTCCGCGCCTTCCTC	0.701													5	11					0	0	1	0	0	A	100998621	G	A	100998621	3	1	81	1	0	0	0	0	1	0	0	0	11853	1087	38	1	1652	1	PGR	11	100998621	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	88725	100998621	34007895	8992	12608											
TRPC6	7225	broad.mit.edu	37	11	101341917	101341917	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:101341917G>A	ENST00000344327.3	-	9	2830	c.2406C>T	c.(2404-2406)aaC>aaT	p.N802N	TRPC6_ENST00000360497.4_Silent_p.N747N|TRPC6_ENST00000348423.4_Silent_p.N686N|TRPC6_ENST00000532133.1_Silent_p.N724N	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel, subfamily C, member 6	802					axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		AAGTTACCTTGTTCATCTCTG	0.378													48	112					0	0	1	0	0	A	101341917	G	A	101341917	2	1	81	1	0	0	0	0	0	0	0	1	16644	1368	48	2		2	TRPC6	11	101341917	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	343296	101341917	33664599	8993	12609											
TRPC6	7225	broad.mit.edu	37	11	101342090	101342090	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:101342090C>G	ENST00000344327.3	-	9	2657	c.2233G>C	c.(2233-2235)Gca>Cca	p.A745P	TRPC6_ENST00000360497.4_Missense_Mutation_p.A690P|TRPC6_ENST00000348423.4_Missense_Mutation_p.A629P|TRPC6_ENST00000532133.1_Missense_Mutation_p.A667P	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel, subfamily C, member 6	745					axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		TTGGCCCTTGCAAATTTCCAC	0.428													9	55					0	0	1	0	0	G	101342090	C	G	101342090	3	3	81	1	0	0	0	0	1	0	0	0	16644	710	25	5	582	5	TRPC6	11	101342090	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	173	101342090	33664426	8994	12610											
KIAA1377	57562	broad.mit.edu	37	11	101793417	101793417	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:101793417G>T	ENST00000263468.8	+	2	444	c.174G>T	c.(172-174)caG>caT	p.Q58H		NM_020802.2	NP_065853.2	Q9P2H0	K1377_HUMAN	KIAA1377	58							protein binding			breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		AAGAGCGCCAGATATTACTGC	0.338													21	26					8.10497e-08	9.55076e-08	1	1	0	T	101793417	G	T	101793417	3	4	81	1	0	0	0	0	1	0	0	0	8269	933	33	4	180	4	KIAA1377	11	101793417	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	451327	101793417	33213099	8995	12611											
KIAA1377	57562	broad.mit.edu	37	11	101815130	101815130	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:101815130G>A	ENST00000263468.8	+	3	653	c.383G>A	c.(382-384)cGg>cAg	p.R128Q		NM_020802.2	NP_065853.2	Q9P2H0	K1377_HUMAN	KIAA1377	128							protein binding			breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		CTTTCACAGCGGAGGAAAGCA	0.338													8	49					0	0	1	0	0	A	101815130	G	A	101815130	3	1	81	1	0	0	0	0	1	0	0	0	8269	1116	39	1	393	1	KIAA1377	11	101815130	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	21713	101815130	33191386	8996	12612											
KIAA1377	57562	broad.mit.edu	37	11	101829098	101829098	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:101829098G>A	ENST00000263468.8	+	5	975		c.e5+1		KIAA1377_ENST00000537689.1_Splice_Site	NM_020802.2	NP_065853.2	Q9P2H0	K1377_HUMAN	KIAA1377								protein binding			breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		CAATTTGCAAGTATGAAACTA	0.353													21	80					0	0	1	0	0	A	101829098	G	A	101829098	5	1	81	1	0	0	0	0	0	0	1	0	8269	1043	36	2	724	2	KIAA1377	11	101829098	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	13968	101829098	33177418	8997	12613											
KIAA1377	57562	broad.mit.edu	37	11	101834143	101834143	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:101834143G>A	ENST00000263468.8	+	6	2647	c.2377G>A	c.(2377-2379)Gct>Act	p.A793T	KIAA1377_ENST00000537689.1_Missense_Mutation_p.A594T	NM_020802.2	NP_065853.2	Q9P2H0	K1377_HUMAN	KIAA1377	793							protein binding			breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		ATTTACACAAGCTCAGGGAAA	0.383													6	80					0	0	1	0	0	A	101834143	G	A	101834143	3	1	81	1	0	0	0	0	1	0	0	0	8269	971	34	2	2399	2	KIAA1377	11	101834143	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	5045	101834143	33172373	8998	12614											
KIAA1377	57562	broad.mit.edu	37	11	101834222	101834222	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:101834222C>A	ENST00000263468.8	+	6	2726	c.2456C>A	c.(2455-2457)tCt>tAt	p.S819Y	KIAA1377_ENST00000537689.1_Missense_Mutation_p.S620Y	NM_020802.2	NP_065853.2	Q9P2H0	K1377_HUMAN	KIAA1377	819							protein binding			breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		ATACAAGTGTCTCAGTGTCAA	0.328													9	61					2.17888e-05	2.43576e-05	1	1	0	A	101834222	C	A	101834222	3	1	81	1	0	0	0	0	1	0	0	0	8269	913	32	4	2478	4	KIAA1377	11	101834222	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	79	101834222	33172294	8999	12615											
C11orf70	85016	broad.mit.edu	37	11	101929663	101929663	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:101929663C>T	ENST00000434758.2	+	3	273	c.245C>T	c.(244-246)tCt>tTt	p.S82F	C11orf70_ENST00000526781.1_Missense_Mutation_p.S82F|C11orf70_ENST00000534360.1_Missense_Mutation_p.S82F	NM_032930.2	NP_116319.2	Q9BRQ4	CK070_HUMAN	chromosome 11 open reading frame 70	82										breast(1)|kidney(1)|lung(5)|ovary(1)|prostate(2)|skin(2)	12	all_epithelial(12;0.0137)	Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.0137)	Lung(13;0.245)	BRCA - Breast invasive adenocarcinoma(274;0.0335)		CTTTCAGATTCTTCTGGACAA	0.249													15	26					0	0	1	0	0	T	101929663	C	T	101929663	3	4	81	1	0	0	0	0	1	0	0	0	1664	913	32	2	137	2	C11orf70	11	101929663	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	95441	101929663	33076853	9000	12616											
C11orf70	85016	broad.mit.edu	37	11	101937226	101937227	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:101937226_101937227insA	ENST00000434758.2	+	4	307_308	c.279_280insA	c.(280-282)aaafs	p.K94fs	C11orf70_ENST00000526781.1_Frame_Shift_Ins_p.K94fs|C11orf70_ENST00000534360.1_Intron	NM_032930.2	NP_116319.2	Q9BRQ4	CK070_HUMAN	chromosome 11 open reading frame 70	94										breast(1)|kidney(1)|lung(5)|ovary(1)|prostate(2)|skin(2)	12	all_epithelial(12;0.0137)	Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.0137)	Lung(13;0.245)	BRCA - Breast invasive adenocarcinoma(274;0.0335)		GAACTGAAGTGAAAAAAATTGA	0.287													30	36	---	---	---	---						A	101937227	-	A	101937226	7	5	81	1	0	1	1	0	0	0	0	0	1664	1277	45	0	175	0	C11orf70	11	101937226	Frame_Shift_Ins	INS	-	TCGA-DU-6392-01A-11D-1705-08	7563	101937226	33069290	9001	12617											
C11orf70	85016	broad.mit.edu	37	11	101937271	101937271	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:101937271G>A	ENST00000434758.2	+	4	352	c.324G>A	c.(322-324)atG>atA	p.M108I	C11orf70_ENST00000526781.1_Missense_Mutation_p.M108I|C11orf70_ENST00000534360.1_Intron	NM_032930.2	NP_116319.2	Q9BRQ4	CK070_HUMAN	chromosome 11 open reading frame 70	108								p.M70I(1)		breast(1)|kidney(1)|lung(5)|ovary(1)|prostate(2)|skin(2)	12	all_epithelial(12;0.0137)	Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.0137)	Lung(13;0.245)	BRCA - Breast invasive adenocarcinoma(274;0.0335)		AGCTTTCAATGTCATTTTTTC	0.284													4	56					0	0	1	0	0	A	101937271	G	A	101937271	3	1	81	1	0	0	0	0	1	0	0	0	1664	1377	48	2	220	2	C11orf70	11	101937271	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	45	101937271	33069245	9002	12618											
C11orf70	85016	broad.mit.edu	37	11	101953841	101953841	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:101953841G>A	ENST00000434758.2	+	7	743	c.715G>A	c.(715-717)Gaa>Aaa	p.E239K		NM_032930.2	NP_116319.2	Q9BRQ4	CK070_HUMAN	chromosome 11 open reading frame 70	239										breast(1)|kidney(1)|lung(5)|ovary(1)|prostate(2)|skin(2)	12	all_epithelial(12;0.0137)	Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.0137)	Lung(13;0.245)	BRCA - Breast invasive adenocarcinoma(274;0.0335)		AAAGAATCATGAACAGACATT	0.308													37	85					0	0	1	0	0	A	101953841	G	A	101953841	3	1	81	1	0	0	0	0	1	0	0	0	1664	1291	45	2	623	2	C11orf70	11	101953841	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	16570	101953841	33052675	9003	12619											
BIRC2	329	broad.mit.edu	37	11	102239204	102239204	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:102239204G>A	ENST00000227758.2	+	6	2690	c.1291G>A	c.(1291-1293)Gtg>Atg	p.V431M	BIRC2_ENST00000532672.1_Missense_Mutation_p.V410M|BIRC2_ENST00000530675.1_Missense_Mutation_p.V382M|BIRC2_ENST00000527910.1_3'UTR	NM_001166.4|NM_001256163.1	NP_001157.1|NP_001243092.1	Q13490	BIRC2_HUMAN	baculoviral IAP repeat containing 2	431					cell surface receptor linked signaling pathway|cellular component disassembly involved in apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteasomal ubiquitin-dependent protein catabolic process|protein polyubiquitination	CD40 receptor complex|cytosol|internal side of plasma membrane	protein N-terminus binding|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(8;0.00044)|all_epithelial(12;0.00348)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0093)	Lung(13;0.109)|Epithelial(9;0.11)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0144)		TAATGATATTGTGTCAGCACT	0.383													47	61					0	0	1	0	0	A	102239204	G	A	102239204	3	1	81	1	0	0	0	0	1	0	0	0	1434	1377	48	2	1309	2	BIRC2	11	102239204	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	285363	102239204	32767312	9004	12620											
TMEM123	114908	broad.mit.edu	37	11	102272907	102272907	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:102272907G>A	ENST00000398136.2	-	3	608	c.188C>T	c.(187-189)aCa>aTa	p.T63I	TMEM123_ENST00000525577.1_5'UTR|TMEM123_ENST00000532161.1_5'UTR|TMEM123_ENST00000361236.3_Missense_Mutation_p.T44I	NM_052932.2	NP_443164.2	Q8N131	PORIM_HUMAN	transmembrane protein 123	63	Thr-rich.				oncosis	external side of plasma membrane|integral to membrane	receptor activity			breast(3)|kidney(1)|large_intestine(1)|lung(3)|urinary_tract(1)	9	all_cancers(8;0.00027)|all_epithelial(12;0.0021)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Epithelial(9;0.0314)|Lung(13;0.109)|all cancers(10;0.12)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0149)		AGTTTCATTTGTATGGTCAGA	0.413													50	60					0	0	1	0	0	A	102272907	G	A	102272907	3	1	81	1	0	0	0	0	1	0	0	0	16096	1377	48	2	450	2	TMEM123	11	102272907	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	33703	102272907	32733609	9005	12621											
MMP20	9313	broad.mit.edu	37	11	102477310	102477310	+	Silent	SNP	G	G	A	rs145296288		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:102477310G>A	ENST00000260228.2	-	6	921	c.909C>T	c.(907-909)gaC>gaT	p.D303D	MMP20_ENST00000544938.1_5'UTR	NM_004771.3	NP_004762.2	O60882	MMP20_HUMAN	matrix metallopeptidase 20	303	Hemopexin-like 1.				proteolysis|regulation of enamel mineralization	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|protein binding|zinc ion binding			endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(8;8.95e-05)|all_epithelial(12;0.00227)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Epithelial(9;0.0216)|Lung(13;0.0711)|all cancers(10;0.0889)|LUSC - Lung squamous cell carcinoma(19;0.13)	BRCA - Breast invasive adenocarcinoma(274;0.0161)		TTGTCACAGCGTCAAAGGATG	0.577													14	28					0	0	1	0	0	A	102477310	G	A	102477310	2	1	81	1	0	0	0	0	0	0	0	1	9707	1136	40	1		1	MMP20	11	102477310	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	204403	102477310	32529206	9006	12622											
MMP20	9313	broad.mit.edu	37	11	102487664	102487664	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:102487664C>T	ENST00000260228.2	-	2	265	c.253G>A	c.(253-255)Ggg>Agg	p.G85R	RP11-817J15.2_ENST00000542119.1_RNA	NM_004771.3	NP_004762.2	O60882	MMP20_HUMAN	matrix metallopeptidase 20	85					proteolysis|regulation of enamel mineralization	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|protein binding|zinc ion binding	p.G85W(1)|p.G85R(1)		endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(8;8.95e-05)|all_epithelial(12;0.00227)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Epithelial(9;0.0216)|Lung(13;0.0711)|all cancers(10;0.0889)|LUSC - Lung squamous cell carcinoma(19;0.13)	BRCA - Breast invasive adenocarcinoma(274;0.0161)		TCTAACTTCCCGGTGACTTGG	0.478													17	34					0	0	1	0	0	T	102487664	C	T	102487664	3	4	81	1	0	0	0	0	1	0	0	0	9707	652	23	1	1234	1	MMP20	11	102487664	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	10354	102487664	32518852	9007	12623											
MMP27	64066	broad.mit.edu	37	11	102562576	102562576	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:102562576T>C	ENST00000260229.4	-	10	1554	c.1463A>G	c.(1462-1464)aAg>aGg	p.K488R		NM_022122.2	NP_071405.2	Q9H306	MMP27_HUMAN	matrix metallopeptidase 27	488					collagen catabolic process|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(12)|ovary(2)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45	all_cancers(8;0.000843)|all_epithelial(12;0.00362)|Lung NSC(15;0.21)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0509)|Lung(13;0.0696)|LUSC - Lung squamous cell carcinoma(19;0.13)|all cancers(10;0.176)	BRCA - Breast invasive adenocarcinoma(274;0.0151)		ATACAATATCTTTATGCCTCC	0.299													8	75					0	0	1	0	0	C	102562576	T	C	102562576	3	2	81	1	0	0	0	0	1	0	0	0	9713	1609	56	3	82	3	MMP27	11	102562576	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	74912	102562576	32443940	9008	12624											
MMP10	4319	broad.mit.edu	37	11	102642785	102642785	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:102642785G>A	ENST00000279441.4	-	9	1324	c.1288C>T	c.(1288-1290)Cca>Tca	p.P430S		NM_002425.2	NP_002416.1	P09238	MMP10_HUMAN	matrix metallopeptidase 10 (stromelysin 2)	430	Hemopexin-like 3.				collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|liver(2)|lung(6)	22	all_epithelial(12;0.00961)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0303)|Lung(13;0.0828)|all cancers(10;0.116)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0145)		TCAACTCCTGGAAAGTCATCA	0.393													19	35					0	0	1	0	0	A	102642785	G	A	102642785	3	1	81	1	0	0	0	0	1	0	0	0	9697	1174	41	2	150	2	MMP10	11	102642785	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	80209	102642785	32363731	9009	12625											
MMP10	4319	broad.mit.edu	37	11	102647349	102647349	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:102647349G>T	ENST00000279441.4	-	5	817	c.781C>A	c.(781-783)Ctc>Atc	p.L261I		NM_002425.2	NP_002416.1	P09238	MMP10_HUMAN	matrix metallopeptidase 10 (stromelysin 2)	261					collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|liver(2)|lung(6)	22	all_epithelial(12;0.00961)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0303)|Lung(13;0.0828)|all cancers(10;0.116)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0145)		TCACCGTAGAGAGACTGAATG	0.463													15	63					3.41278e-10	4.16681e-10	1	1	0	T	102647349	G	T	102647349	3	4	81	1	0	0	0	0	1	0	0	0	9697	942	33	4	673	4	MMP10	11	102647349	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	4564	102647349	32359167	9010	12626											
MMP3	4314	broad.mit.edu	37	11	102709846	102709846	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:102709846A>G	ENST00000299855.5	-	7	1320	c.1064T>C	c.(1063-1065)tTt>tCt	p.F355S		NM_002422.3	NP_002413.1	P08254	MMP3_HUMAN	matrix metallopeptidase 3 (stromelysin 1, progelatinase)	355	Hemopexin-like 2.				collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0142)	Marimastat(DB00786)|Simvastatin(DB00641)	ATTACCTTTAAAAATGAAAAC	0.368													7	68					0	0	1	0	0	G	102709846	A	G	102709846	3	3	81	1	0	0	0	0	1	0	0	0	9715	14	1	3	385	3	MMP3	11	102709846	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	62497	102709846	32296670	9011	12627											
MMP3	4314	broad.mit.edu	37	11	102713310	102713310	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:102713310C>T	ENST00000299855.5	-	3	607	c.351G>A	c.(349-351)agG>agA	p.R117R		NM_002422.3	NP_002413.1	P08254	MMP3_HUMAN	matrix metallopeptidase 3 (stromelysin 1, progelatinase)	117					collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0142)	Marimastat(DB00786)|Simvastatin(DB00641)	AATTCACAATCCTGTAGGAGA	0.378													41	53					0	0	1	0	0	T	102713310	C	T	102713310	5	4	81	1	0	0	0	0	0	0	1	0	9715	869	30	2	1114	2	MMP3	11	102713310	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3464	102713310	32293206	9012	12628											
MMP12	4321	broad.mit.edu	37	11	102736573	102736574	+	RNA	INS	-	-	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:102736573_102736574insT	ENST00000532855.1	-	0	1233_1234							P39900	MMP12_HUMAN	matrix metallopeptidase 12 (macrophage elastase)						positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.014)	Acetohydroxamic Acid(DB00551)	AGCTGCATCAATTTTTTTCACA	0.366													10	25	---	---	---	---						T	102736574	-	T	102736573	6	5	81	0	1	1	1	0	0	0	0	0	9699	101	4	0		0	MMP12	11	102736573	RNA	INS	-	TCGA-DU-6392-01A-11D-1705-08	23263	102736573	32269943	9013	12629											
MMP12	4321	broad.mit.edu	37	11	102736621	102736621	+	RNA	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:102736621T>C	ENST00000532855.1	-	0	1186							P39900	MMP12_HUMAN	matrix metallopeptidase 12 (macrophage elastase)						positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.014)	Acetohydroxamic Acid(DB00551)	GCTCTTGGGATAATTTGGCTC	0.318													17	29					0	0	1	0	0	C	102736621	T	C	102736621	1	2	81	0	1	0	0	0	0	0	0	0	9699	1406	49	3		3	MMP12	11	102736621	RNA	SNP	T	TCGA-DU-6392-01A-11D-1705-08	48	102736621	32269895	9014	12630											
DCUN1D5	84259	broad.mit.edu	37	11	102937048	102937048	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:102937048G>T	ENST00000260247.5	-	6	847	c.505C>A	c.(505-507)Ctg>Atg	p.L169M	DCUN1D5_ENST00000531543.1_Missense_Mutation_p.L84M	NM_032299.3	NP_115675.1	Q9BTE7	DCNL5_HUMAN	DCN1, defective in cullin neddylation 1, domain containing 5	169	DCUN1.									NS(1)|central_nervous_system(1)|endometrium(2)	4		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.00032)|Epithelial(105;0.0689)|all cancers(92;0.186)		CTCCCAAGCAGAAGAGCTAAC	0.333													4	50					0.00024832	0.000269806	1	1	0	T	102937048	G	T	102937048	3	4	81	1	0	0	0	0	1	0	0	0	4340	933	33	4	220	4	DCUN1D5	11	102937048	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	200427	102937048	32069468	9015	12631											
DYNC2H1	79659	broad.mit.edu	37	11	103018615	103018615	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:103018615G>T	ENST00000375735.2	+	19	2961	c.2817G>T	c.(2815-2817)caG>caT	p.Q939H	DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Splice_Site_p.Q939H	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	939	Stem (By similarity).				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		AGTCCATACAGGGTAAATACA	0.274													5	37					1.23904e-05	1.39156e-05	1	1	0	T	103018615	G	T	103018615	5	4	81	1	0	0	0	0	0	0	1	0	4872	1014	35	4	2891	4	DYNC2H1	11	103018615	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	81567	103018615	31987901	9016	12632											
DYNC2H1	79659	broad.mit.edu	37	11	103026221	103026221	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:103026221C>T	ENST00000375735.2	+	25	3879	c.3735C>T	c.(3733-3735)gcC>gcT	p.A1245A	DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Silent_p.A1245A	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	1245	Stem (By similarity).				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		CCAAAGCTGCCGACCTTAAAG	0.348													14	17					0	0	1	0	0	T	103026221	C	T	103026221	2	4	81	1	0	0	0	0	0	0	0	1	4872	639	23	1		1	DYNC2H1	11	103026221	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	7606	103026221	31980295	9017	12633											
DYNC2H1	79659	broad.mit.edu	37	11	103027235	103027235	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:103027235C>G	ENST00000375735.2	+	26	4007	c.3863C>G	c.(3862-3864)aCt>aGt	p.T1288S	DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Missense_Mutation_p.T1288S	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	1288	Stem (By similarity).		T -> A (in dbSNP:rs17301750).		cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		CAAAGTCGAACTATGAAGCTG	0.358													8	69					0	0	1	0	0	G	103027235	C	G	103027235	3	3	81	1	0	0	0	0	1	0	0	0	4872	565	20	4	3965	4	DYNC2H1	11	103027235	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1014	103027235	31979281	9018	12634											
DYNC2H1	79659	broad.mit.edu	37	11	103039600	103039600	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:103039600delA	ENST00000375735.2	+	32	5023	c.4879delA	c.(4879-4881)aaafs	p.K1628fs	DYNC2H1_ENST00000398093.3_Frame_Shift_Del_p.K1628fs|DYNC2H1_ENST00000334267.7_Intron	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	1628	Stem (By similarity).				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		CTGGGCTTGGAAAAAACAACT	0.323													7	42	---	---	---	---						-	103039600	A	-	103039600	7	5	81	1	0	1	0	1	0	0	0	0	4872	247	9	0	5005	0	DYNC2H1	11	103039600	Frame_Shift_Del	DEL	A	TCGA-DU-6392-01A-11D-1705-08	12365	103039600	31966916	9019	12635											
DYNC2H1	79659	broad.mit.edu	37	11	103041675	103041675	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:103041675G>A	ENST00000375735.2	+	34	5356	c.5212G>A	c.(5212-5214)Ggt>Agt	p.G1738S	DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Missense_Mutation_p.G1738S	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	1738	AAA 1 (By similarity).				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		TGGGGCCTGGGGTTGTTTTGA	0.353													16	16					0	0	1	0	0	A	103041675	G	A	103041675	3	1	81	1	0	0	0	0	1	0	0	0	4872	1232	43	2	5346	2	DYNC2H1	11	103041675	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2075	103041675	31964841	9020	12636											
DYNC2H1	79659	broad.mit.edu	37	11	103048401	103048401	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:103048401T>C	ENST00000375735.2	+	38	6135	c.5991T>C	c.(5989-5991)tgT>tgC	p.C1997C	DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Silent_p.C1997C	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	1997	AAA 2 (By similarity).				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		CTGCGCTTTGTAAAACTGGCA	0.403													15	44					0	0	1	0	0	C	103048401	T	C	103048401	2	2	81	1	0	0	0	0	0	0	0	1	4872	1644	57	3		3	DYNC2H1	11	103048401	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	6726	103048401	31958115	9021	12637											
DYNC2H1	79659	broad.mit.edu	37	11	103048487	103048487	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:103048487C>T	ENST00000375735.2	+	38	6221	c.6077C>T	c.(6076-6078)aCa>aTa	p.T2026I	DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Missense_Mutation_p.T2026I	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	2026	AAA 2 (By similarity).				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		GACATGGACACAAGAGAATGG	0.393													7	41					0	0	1	0	0	T	103048487	C	T	103048487	3	4	81	1	0	0	0	0	1	0	0	0	4872	478	17	2	6227	2	DYNC2H1	11	103048487	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	86	103048487	31958029	9022	12638											
DYNC2H1	79659	broad.mit.edu	37	11	103055642	103055642	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:103055642A>T	ENST00000375735.2	+	41	6639	c.6495A>T	c.(6493-6495)gaA>gaT	p.E2165D	DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Missense_Mutation_p.E2165D	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	2165					cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		ATGTGGTAGAAACAAGTTTGG	0.373													7	86					0	0	1	0	0	T	103055642	A	T	103055642	3	4	81	1	0	0	0	0	1	0	0	0	4872	11	1	5	6657	5	DYNC2H1	11	103055642	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	7155	103055642	31950874	9023	12639											
DYNC2H1	79659	broad.mit.edu	37	11	103107184	103107184	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:103107184T>C	ENST00000375735.2	+	63	9879	c.9735T>C	c.(9733-9735)tgT>tgC	p.C3245C	DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Silent_p.C3245C	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	3245	AAA 5 (By similarity).				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		GATTTCTTTGTACTGAAAGTG	0.318													24	50					0	0	1	0	0	C	103107184	T	C	103107184	2	2	81	1	0	0	0	0	0	0	0	1	4872	1644	57	3		3	DYNC2H1	11	103107184	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	51542	103107184	31899332	9024	12640											
PDGFD	80310	broad.mit.edu	37	11	103870879	103870879	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:103870879G>A	ENST00000302251.5	-	2	662	c.211C>T	c.(211-213)Ctg>Ttg	p.L71L	PDGFD_ENST00000393158.2_Silent_p.L77L	NM_025208.4|NM_033135.3	NP_079484.1|NP_149126.1	Q9GZP0	PDGFD_HUMAN	platelet derived growth factor D	77	CUB.				positive regulation of cell division	endoplasmic reticulum lumen|extracellular region|Golgi membrane	growth factor activity			biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Melanoma(852;0.0563)|all_neural(303;0.165)		BRCA - Breast invasive adenocarcinoma(274;0.00136)|Epithelial(105;0.111)		GTCAGGAGCAGGTTCCTGGGG	0.483													48	104					0	0	1	0	0	A	103870879	G	A	103870879	2	1	81	1	0	0	0	0	0	0	0	1	11707	991	35	2		2	PDGFD	11	103870879	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	763695	103870879	31135637	9025	12641											
PDGFD	80310	broad.mit.edu	37	11	103870925	103870925	+	Silent	SNP	G	G	A	rs148454316	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:103870925G>A	ENST00000302251.5	-	2	616	c.165C>T	c.(163-165)aaC>aaT	p.N55N	PDGFD_ENST00000393158.2_Silent_p.N61N	NM_025208.4|NM_033135.3	NP_079484.1|NP_149126.1	Q9GZP0	PDGFD_HUMAN	platelet derived growth factor D	61	CUB.				positive regulation of cell division	endoplasmic reticulum lumen|extracellular region|Golgi membrane	growth factor activity			biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Melanoma(852;0.0563)|all_neural(303;0.165)		BRCA - Breast invasive adenocarcinoma(274;0.00136)|Epithelial(105;0.111)		GCACGTAGCCGTTTCCTTTCA	0.488													13	142					0	0	1	0	0	A	103870925	G	A	103870925	2	1	81	1	0	0	0	0	0	0	0	1	11707	1136	40	1		1	PDGFD	11	103870925	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	46	103870925	31135591	9026	12642											
DDI1	414301	broad.mit.edu	37	11	103907867	103907867	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:103907867G>A	ENST00000302259.3	+	1	560	c.317G>A	c.(316-318)aGc>aAc	p.S106N	PDGFD_ENST00000302251.5_Intron|PDGFD_ENST00000393158.2_Intron	NM_001001711.2	NP_001001711.1	Q8WTU0	DDI1_HUMAN	DNA-damage inducible 1 homolog 1 (S. cerevisiae)	106					proteolysis		aspartic-type endopeptidase activity			central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)		GGGACGTCCAGCTCCCGTCCA	0.652													10	97					0	0	1	0	0	A	103907867	G	A	103907867	3	1	81	1	0	0	0	0	1	0	0	0	4351	971	34	2	319	2	DDI1	11	103907867	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	36942	103907867	31098649	9027	12643											
DDI1	414301	broad.mit.edu	37	11	103908442	103908442	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:103908442A>T	ENST00000302259.3	+	1	1135	c.892A>T	c.(892-894)Att>Ttt	p.I298F	PDGFD_ENST00000302251.5_Intron|PDGFD_ENST00000393158.2_Intron	NM_001001711.2	NP_001001711.1	Q8WTU0	DDI1_HUMAN	DNA-damage inducible 1 homolog 1 (S. cerevisiae)	298					proteolysis		aspartic-type endopeptidase activity			central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)		CACACAGAGAATTATTGGCCG	0.488													7	53					0	0	1	0	0	T	103908442	A	T	103908442	3	4	81	1	0	0	0	0	1	0	0	0	4351	101	4	4	894	4	DDI1	11	103908442	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	575	103908442	31098074	9028	12644											
CASP4	837	broad.mit.edu	37	11	104819404	104819404	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:104819404C>A	ENST00000444739.2	-	6	1692		c.e6-1		CASP4_ENST00000393150.3_Splice_Site	NM_001225.3	NP_001216.1	P49662	CASP4_HUMAN	caspase 4, apoptosis-related cysteine peptidase						apoptosis|induction of apoptosis|proteolysis	intracellular	cysteine-type endopeptidase activity|protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(2)	23		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000854)|Epithelial(105;0.00879)|all cancers(92;0.0357)		CCACGGTTTGCTATGGAGACA	0.473													16	32					9.16793e-09	1.09544e-08	1	1	0	A	104819404	C	A	104819404	5	1	81	1	0	0	0	0	0	0	1	0	2691	811	28	4	364	4	CASP4	11	104819404	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	910962	104819404	30187112	9029	12645											
CASP5	838	broad.mit.edu	37	11	104869616	104869616	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:104869616T>C	ENST00000393141.2	-	7	1162	c.1131A>G	c.(1129-1131)acA>acG	p.T377T	CASP5_ENST00000393139.2_3'UTR|CASP5_ENST00000526056.1_Silent_p.T377T|CASP5_ENST00000260315.3_Silent_p.T364T|CASP5_ENST00000418434.1_Silent_p.T222T|CASP5_ENST00000444749.2_Silent_p.T306T|CASP5_ENST00000531367.1_Silent_p.T222T	NM_001136112.1|NM_004347.3	NP_001129584.1|NP_004338.3	P51878	CASP5_HUMAN	caspase 5, apoptosis-related cysteine peptidase	364					apoptosis|cellular response to mechanical stimulus|proteolysis|regulation of apoptosis	intracellular	cysteine-type endopeptidase activity|protein binding			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|ovary(3)|skin(1)|urinary_tract(1)	35		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042)		ACATACGTGGTGTTGAAGAAC	0.443													7	102					0	0	1	0	0	C	104869616	T	C	104869616	2	2	81	1	0	0	0	0	0	0	0	1	2692	1683	59	3		3	CASP5	11	104869616	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	50212	104869616	30136900	9030	12646											
CASP5	838	broad.mit.edu	37	11	104874010	104874011	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:104874010_104874011insT	ENST00000393141.2	-	4	603_604	c.572_573insA	c.(571-573)aatfs	p.N191fs	CASP5_ENST00000418434.1_Frame_Shift_Ins_p.N36fs|CASP5_ENST00000393139.2_Intron|CASP5_ENST00000526056.1_Frame_Shift_Ins_p.N191fs|CASP5_ENST00000531367.1_Frame_Shift_Ins_p.N36fs|CASP5_ENST00000260315.3_Frame_Shift_Ins_p.N178fs|CASP5_ENST00000444749.2_Frame_Shift_Ins_p.N120fs	NM_001136112.1|NM_004347.3	NP_001129584.1|NP_004338.3	P51878	CASP5_HUMAN	caspase 5, apoptosis-related cysteine peptidase	178					apoptosis|cellular response to mechanical stimulus|proteolysis|regulation of apoptosis	intracellular	cysteine-type endopeptidase activity|protein binding			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|ovary(3)|skin(1)|urinary_tract(1)	35		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042)		CCTCATCATGATTTTTTTTACA	0.401													25	130	---	---	---	---						T	104874011	-	T	104874010	7	5	81	1	0	1	1	0	0	0	0	0	2692	330	12	0	794	0	CASP5	11	104874010	Frame_Shift_Ins	INS	-	TCGA-DU-6392-01A-11D-1705-08	4394	104874010	30132506	9031	12647											
CASP1	834	broad.mit.edu	37	11	104897026	104897026	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:104897026C>T	ENST00000533400.1	-	9	1209	c.1174G>A	c.(1174-1176)Gtg>Atg	p.V392M	CASP1_ENST00000446369.1_Missense_Mutation_p.V251M|CASP1_ENST00000598974.1_Missense_Mutation_p.V392M|CASP1_ENST00000525825.1_Missense_Mutation_p.V371M|CASP1_ENST00000436863.3_Missense_Mutation_p.V392M|CASP1_ENST00000593315.1_Missense_Mutation_p.V371M|CASP1_ENST00000527979.1_Missense_Mutation_p.V355M|CASP1_ENST00000526568.1_Missense_Mutation_p.V299M|CASP1_ENST00000534497.1_Missense_Mutation_p.V251M|CASP1_ENST00000594519.1_Missense_Mutation_p.V251M|CASP1_ENST00000531166.1_Missense_Mutation_p.V76M|CASP1_ENST00000353247.5_Missense_Mutation_p.V76M|CASP1_ENST00000415981.2_Missense_Mutation_p.V76M|CASP1_ENST00000393136.4_Missense_Mutation_p.V371M	NM_001257118.1	NP_001244047.1	P29466	CASP1_HUMAN	caspase 1, apoptosis-related cysteine peptidase	392					cellular response to mechanical stimulus|cellular response to organic substance|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis|signal transduction	cytosol	caspase activator activity|cysteine-type endopeptidase activity|protein binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000525)|Epithelial(105;0.0128)|all cancers(92;0.0482)	Minocycline(DB01017)|Penicillamine(DB00859)	GTCAAAGTCACTCTTTCAGTG	0.443													36	49					0	0	1	0	0	T	104897026	C	T	104897026	3	4	81	1	0	0	0	0	1	0	0	0	2686	565	20	2	44	2	CASP1	11	104897026	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	23016	104897026	30109490	9032	12648											
CASP1	834	broad.mit.edu	37	11	104897599	104897599	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:104897599A>G	ENST00000533400.1	-	8	1121	c.1086T>C	c.(1084-1086)tgT>tgC	p.C362C	CASP1_ENST00000446369.1_Silent_p.C221C|CASP1_ENST00000528974.1_3'UTR|CASP1_ENST00000598974.1_Silent_p.C362C|CASP1_ENST00000525825.1_Silent_p.C341C|CASP1_ENST00000436863.3_Silent_p.C362C|CASP1_ENST00000593315.1_Silent_p.C341C|CASP1_ENST00000527979.1_Silent_p.C325C|CASP1_ENST00000526568.1_Silent_p.C269C|CASP1_ENST00000534497.1_Silent_p.C221C|CASP1_ENST00000594519.1_Silent_p.C221C|CASP1_ENST00000531166.1_Silent_p.C46C|CASP1_ENST00000353247.5_Silent_p.C46C|CASP1_ENST00000415981.2_Silent_p.C46C|CASP1_ENST00000393136.4_Silent_p.C341C	NM_001257118.1	NP_001244047.1	P29466	CASP1_HUMAN	caspase 1, apoptosis-related cysteine peptidase	362					cellular response to mechanical stimulus|cellular response to organic substance|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis|signal transduction	cytosol	caspase activator activity|cysteine-type endopeptidase activity|protein binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000525)|Epithelial(105;0.0128)|all cancers(92;0.0482)	Minocycline(DB01017)|Penicillamine(DB00859)	CATCACAGGAACAGGCATATT	0.398													17	74					0	0	1	0	0	G	104897599	A	G	104897599	2	3	81	1	0	0	0	0	0	0	0	1	2686	41	2	3		3	CASP1	11	104897599	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	573	104897599	30108917	9033	12649											
CASP1	834	broad.mit.edu	37	11	104900497	104900497	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:104900497G>T	ENST00000533400.1	-	6	792	c.757C>A	c.(757-759)Cca>Aca	p.P253T	CASP1_ENST00000446369.1_Missense_Mutation_p.P160T|CASP1_ENST00000528974.1_Missense_Mutation_p.P214T|CASP1_ENST00000598974.1_Missense_Mutation_p.P253T|CASP1_ENST00000525825.1_Missense_Mutation_p.P232T|CASP1_ENST00000436863.3_Missense_Mutation_p.P253T|CASP1_ENST00000593315.1_Missense_Mutation_p.P232T|CASP1_ENST00000527979.1_Missense_Mutation_p.P216T|CASP1_ENST00000526568.1_Missense_Mutation_p.P160T|CASP1_ENST00000534497.1_Missense_Mutation_p.P160T|CASP1_ENST00000594519.1_Missense_Mutation_p.P160T|CASP1_ENST00000531166.1_Intron|CASP1_ENST00000353247.5_Intron|CASP1_ENST00000415981.2_Intron|CASP1_ENST00000393136.4_Missense_Mutation_p.P232T	NM_001257118.1	NP_001244047.1	P29466	CASP1_HUMAN	caspase 1, apoptosis-related cysteine peptidase	253					cellular response to mechanical stimulus|cellular response to organic substance|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis|signal transduction	cytosol	caspase activator activity|cysteine-type endopeptidase activity|protein binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000525)|Epithelial(105;0.0128)|all cancers(92;0.0482)	Minocycline(DB01017)|Penicillamine(DB00859)	AGTATATCTGGGACTTGCTCA	0.478													5	103					2.0095e-06	2.30238e-06	1	1	0	T	104900497	G	T	104900497	3	4	81	1	0	0	0	0	1	0	0	0	2686	1232	43	5	473	5	CASP1	11	104900497	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2898	104900497	30106019	9034	12650											
CASP1	834	broad.mit.edu	37	11	104900565	104900565	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:104900565G>A	ENST00000533400.1	-	6	724	c.689C>T	c.(688-690)aCg>aTg	p.T230M	CASP1_ENST00000446369.1_Missense_Mutation_p.T137M|CASP1_ENST00000528974.1_Missense_Mutation_p.T191M|CASP1_ENST00000598974.1_Missense_Mutation_p.T230M|CASP1_ENST00000525825.1_Missense_Mutation_p.T209M|CASP1_ENST00000436863.3_Missense_Mutation_p.T230M|CASP1_ENST00000593315.1_Missense_Mutation_p.T209M|CASP1_ENST00000527979.1_Missense_Mutation_p.T193M|CASP1_ENST00000526568.1_Missense_Mutation_p.T137M|CASP1_ENST00000534497.1_Missense_Mutation_p.T137M|CASP1_ENST00000594519.1_Missense_Mutation_p.T137M|CASP1_ENST00000531166.1_Intron|CASP1_ENST00000353247.5_Intron|CASP1_ENST00000415981.2_Intron|CASP1_ENST00000393136.4_Missense_Mutation_p.T209M	NM_001257118.1	NP_001244047.1	P29466	CASP1_HUMAN	caspase 1, apoptosis-related cysteine peptidase	230					cellular response to mechanical stimulus|cellular response to organic substance|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis|signal transduction	cytosol	caspase activator activity|cysteine-type endopeptidase activity|protein binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000525)|Epithelial(105;0.0128)|all cancers(92;0.0482)	Minocycline(DB01017)|Penicillamine(DB00859)	CACCAGGAACGTGCTGTCAGA	0.453													6	133					0	0	1	0	0	A	104900565	G	A	104900565	3	1	81	1	0	0	0	0	1	0	0	0	2686	1145	40	1	541	1	CASP1	11	104900565	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	68	104900565	30105951	9035	12651											
GRIA4	2893	broad.mit.edu	37	11	105623793	105623793	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:105623793G>A	ENST00000393127.2	+	4	780	c.334G>A	c.(334-336)Gcc>Acc	p.A112T	GRIA4_ENST00000393125.2_Missense_Mutation_p.A112T|GRIA4_ENST00000525187.1_Missense_Mutation_p.A112T|GRIA4_ENST00000428631.2_Missense_Mutation_p.A112T|GRIA4_ENST00000282499.5_Missense_Mutation_p.A112T|GRIA4_ENST00000530497.1_Missense_Mutation_p.A112T	NM_001077243.2	NP_001070711	P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	112					glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	L-Glutamic Acid(DB00142)	ATTCTGCAGCGCCTTACATAT	0.463													7	86					0	0	1	0	0	A	105623793	G	A	105623793	3	1	81	1	0	0	0	0	1	0	0	0	6811	1087	38	1	344	1	GRIA4	11	105623793	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	723228	105623793	29382723	9036	12652											
GRIA4	2893	broad.mit.edu	37	11	105845055	105845055	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:105845055A>T	ENST00000393127.2	+	16	2874	c.2428A>T	c.(2428-2430)Agc>Tgc	p.S810C	GRIA4_ENST00000525187.1_Missense_Mutation_p.S810C|GRIA4_ENST00000282499.5_Missense_Mutation_p.S810C|GRIA4_ENST00000533094.1_3'UTR|GRIA4_ENST00000530497.1_Missense_Mutation_p.S810C	NM_001077243.2	NP_001070711	P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	810					glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	L-Glutamic Acid(DB00142)	GAGTGCCTTGAGCCTGAGCAA	0.473													11	109					0	0	1	0	0	T	105845055	A	T	105845055	3	4	81	1	0	0	0	0	1	0	0	0	6811	304	11	5	2642	5	GRIA4	11	105845055	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	221262	105845055	29161461	9037	12653											
KBTBD3	143879	broad.mit.edu	37	11	105929784	105929784	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:105929784C>T	ENST00000526793.1	-	2	200	c.41G>A	c.(40-42)cGa>cAa	p.R14Q	KBTBD3_ENST00000531837.1_Missense_Mutation_p.R14Q|KBTBD3_ENST00000531482.2_Missense_Mutation_p.R14Q|KBTBD3_ENST00000534815.1_Intron	NM_152433.3	NP_689646.2	Q8NAB2	KBTB3_HUMAN	kelch repeat and BTB (POZ) domain containing 3	10										NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	25		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)		BRCA - Breast invasive adenocarcinoma(274;5.43e-05)|Epithelial(105;0.00418)|all cancers(92;0.0299)		ACATGTGCTTCGTTGATTGAA	0.328													9	27					0	0	1	0	0	T	105929784	C	T	105929784	3	4	81	1	0	0	0	0	1	0	0	0	8038	884	31	1	1805	1	KBTBD3	11	105929784	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	84729	105929784	29076732	9038	12654											
GUCY1A2	2977	broad.mit.edu	37	11	106849401	106849401	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:106849401T>G	ENST00000526355.2	-	3	899	c.431A>C	c.(430-432)aAc>aCc	p.N144T	GUCY1A2_ENST00000347596.2_Missense_Mutation_p.N144T|GUCY1A2_ENST00000282249.2_Missense_Mutation_p.N144T	NM_000855.2	NP_000846.1	P33402	GCYA2_HUMAN	guanylate cyclase 1, soluble, alpha 2						intracellular signal transduction|platelet activation	cytoplasm	GTP binding|guanylate cyclase activity|heme binding			breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	74		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)		TTCTTCTTTGTTGGAGTGGTC	0.328													19	32					0	0	1	0	0	G	106849401	T	G	106849401	3	3	81	1	0	0	0	0	1	0	0	0	6934	1725	60	5	1791	5	GUCY1A2	11	106849401	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	919617	106849401	28157115	9039	12655											
CWF19L2	143884	broad.mit.edu	37	11	107299983	107299983	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:107299983T>C	ENST00000282251.5	-	8	1002	c.975A>G	c.(973-975)aaA>aaG	p.K325K	CWF19L2_ENST00000433523.1_Silent_p.K325K	NM_152434.2	NP_689647.2	Q2TBE0	C19L2_HUMAN	CWF19-like 2, cell cycle control (S. pombe)	325							catalytic activity			endometrium(4)|kidney(2)|large_intestine(13)|lung(21)	40		Melanoma(852;1.75e-05)|all_epithelial(67;6.27e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258)		Epithelial(105;7.18e-06)|BRCA - Breast invasive adenocarcinoma(274;1.65e-05)|all cancers(92;1.76e-05)		TATTGCTATTTTTTGCAGTAT	0.323													6	60					0	0	1	0	0	C	107299983	T	C	107299983	2	2	81	1	0	0	0	0	0	0	0	1	4095	1838	64	3		3	CWF19L2	11	107299983	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	450582	107299983	27706533	9040	12656											
ELMOD1	55531	broad.mit.edu	37	11	107518236	107518236	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:107518236A>G	ENST00000265840.7	+	7	728	c.463A>G	c.(463-465)Att>Gtt	p.I155V	ELMOD1_ENST00000443271.2_Missense_Mutation_p.I155V|ELMOD1_ENST00000531234.1_Missense_Mutation_p.I149V	NM_018712.3	NP_061182.3	Q8N336	ELMD1_HUMAN	ELMO/CED-12 domain containing 1	155	ELMO.				phagocytosis	cytoskeleton	GTPase activator activity			endometrium(2)|large_intestine(5)|liver(2)|lung(7)|pancreas(2)|prostate(1)	19		Melanoma(852;0.000288)|Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00301)|all_epithelial(67;0.00304)|Breast(348;0.104)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Epithelial(105;0.00027)|all cancers(92;0.00481)		GGAATCTCGGATTTCTAAGCA	0.388													5	47					0	0	1	0	0	G	107518236	A	G	107518236	3	3	81	1	0	0	0	0	1	0	0	0	5096	333	12	3	485	3	ELMOD1	11	107518236	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	218253	107518236	27488280	9041	12657											
ELMOD1	55531	broad.mit.edu	37	11	107526696	107526696	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:107526696C>A	ENST00000265840.7	+	11	1001	c.736C>A	c.(736-738)Ctg>Atg	p.L246M	ELMOD1_ENST00000443271.2_Missense_Mutation_p.L238M|ELMOD1_ENST00000531234.1_Missense_Mutation_p.L240M	NM_018712.3	NP_061182.3	Q8N336	ELMD1_HUMAN	ELMO/CED-12 domain containing 1	246	ELMO.				phagocytosis	cytoskeleton	GTPase activator activity			endometrium(2)|large_intestine(5)|liver(2)|lung(7)|pancreas(2)|prostate(1)	19		Melanoma(852;0.000288)|Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00301)|all_epithelial(67;0.00304)|Breast(348;0.104)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Epithelial(105;0.00027)|all cancers(92;0.00481)		TATAACTGACCTGGCATATAA	0.378													6	6					0.217242	0.218703	1	1	0	A	107526696	C	A	107526696	3	1	81	1	0	0	0	0	1	0	0	0	5096	680	24	4	774	4	ELMOD1	11	107526696	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	8460	107526696	27479820	9042	12658											
SLC35F2	54733	broad.mit.edu	37	11	107673881	107673881	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:107673881G>A	ENST00000525071.1	-	10	1373	c.785C>T	c.(784-786)gCc>gTc	p.A262V	SLC35F2_ENST00000375682.4_Splice_Site_p.A215V|SLC35F2_ENST00000429869.1_Splice_Site_p.A262V|SLC35F2_ENST00000525815.1_Splice_Site_p.A262V|SLC35F2_ENST00000265836.7_Splice_Site_p.A114V			Q8IXU6	S35F2_HUMAN	solute carrier family 35, member F2	262					transport	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(61;9.46e-06)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;0.000111)|all_hematologic(158;0.000315)|all_epithelial(67;0.00197)|Breast(348;0.104)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)|Epithelial(105;0.000105)|all cancers(92;0.00217)		GAACAGCAGGGCTGTGGAAAA	0.428													6	19					0	0	1	0	0	A	107673881	G	A	107673881	5	1	81	1	0	0	0	0	0	0	1	0	14644	1217	42	2	347	2	SLC35F2	11	107673881	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	147185	107673881	27332635	9043	12659											
SLC35F2	54733	broad.mit.edu	37	11	107677491	107677491	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:107677491C>A	ENST00000525071.1	-	7	1114	c.526G>T	c.(526-528)Gga>Tga	p.G176*	SLC35F2_ENST00000375682.4_Nonsense_Mutation_p.G129*|SLC35F2_ENST00000429869.1_Nonsense_Mutation_p.G176*|SLC35F2_ENST00000525815.1_Nonsense_Mutation_p.G176*|SLC35F2_ENST00000265836.7_Nonsense_Mutation_p.G28*			Q8IXU6	S35F2_HUMAN	solute carrier family 35, member F2	176					transport	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(61;9.46e-06)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;0.000111)|all_hematologic(158;0.000315)|all_epithelial(67;0.00197)|Breast(348;0.104)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)|Epithelial(105;0.000105)|all cancers(92;0.00217)		ACCATGGTTCCTACACCCAAC	0.458													27	40					2.12542e-12	2.65769e-12	1	1	0	A	107677491	C	A	107677491	4	1	81	1	0	0	0	0	0	1	0	0	14644	690	24	4	618	4	SLC35F2	11	107677491	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3610	107677491	27329025	9044	12660											
CUL5	8065	broad.mit.edu	37	11	107944222	107944222	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:107944222A>G	ENST00000393094.2	+	10	1727	c.1111A>G	c.(1111-1113)Aag>Gag	p.K371E	CUL5_ENST00000531843.1_3'UTR	NM_003478.3	NP_003469.2	Q93034	CUL5_HUMAN	cullin 5	371					cell cycle arrest|cell proliferation|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process|viral reproduction	cullin-RING ubiquitin ligase complex|cytosol	calcium channel activity|receptor activity|ubiquitin protein ligase binding			endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	23		all_cancers(61;7.09e-10)|all_epithelial(67;2.97e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|Melanoma(852;4.48e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;3.58e-05)|Epithelial(105;4.68e-05)|all cancers(92;0.00122)|OV - Ovarian serous cystadenocarcinoma(223;0.217)		TGCAAGAGATAAGGTATATAT	0.239													3	36					0	0	1	0	0	G	107944222	A	G	107944222	3	3	81	1	0	0	0	0	1	0	0	0	4082	363	13	3	1149	3	CUL5	11	107944222	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	266731	107944222	27062294	9045	12661											
CUL5	8065	broad.mit.edu	37	11	107965640	107965640	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:107965640G>A	ENST00000393094.2	+	15	2285	c.1669G>A	c.(1669-1671)Gaa>Aaa	p.E557K		NM_003478.3	NP_003469.2	Q93034	CUL5_HUMAN	cullin 5	557					cell cycle arrest|cell proliferation|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process|viral reproduction	cullin-RING ubiquitin ligase complex|cytosol	calcium channel activity|receptor activity|ubiquitin protein ligase binding			endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	23		all_cancers(61;7.09e-10)|all_epithelial(67;2.97e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|Melanoma(852;4.48e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;3.58e-05)|Epithelial(105;4.68e-05)|all cancers(92;0.00122)|OV - Ovarian serous cystadenocarcinoma(223;0.217)		CTTGATACCGGAAGTAGAAGA	0.348													37	43					0	0	1	0	0	A	107965640	G	A	107965640	3	1	81	1	0	0	0	0	1	0	0	0	4082	1175	41	2	1727	2	CUL5	11	107965640	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	21418	107965640	27040876	9046	12662											
NPAT	4863	broad.mit.edu	37	11	108047023	108047023	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:108047023G>A	ENST00000278612.8	-	12	1187	c.1082C>T	c.(1081-1083)gCa>gTa	p.A361V	NPAT_ENST00000610253.1_5'UTR	NM_002519.2	NP_002510.2	Q14207	NPAT_HUMAN	nuclear protein, ataxia-telangiectasia locus	361					positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	protein C-terminus binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5)	46		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)		AGTTTCATCTGCTAAGACTAT	0.289													24	38					0	0	1	0	0	A	108047023	G	A	108047023	3	1	81	1	0	0	0	0	1	0	0	0	10613	1319	46	2	3229	2	NPAT	11	108047023	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	81383	108047023	26959493	9047	12663											
NPAT	4863	broad.mit.edu	37	11	108059858	108059858	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:108059858G>A	ENST00000278612.8	-	6	636	c.531C>T	c.(529-531)caC>caT	p.H177H	NPAT_ENST00000610253.1_5'UTR	NM_002519.2	NP_002510.2	Q14207	NPAT_HUMAN	nuclear protein, ataxia-telangiectasia locus	177	Interaction with MIZF.				positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	protein C-terminus binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5)	46		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)		GTGACTGTGAGTGGTTGACCA	0.368													25	41					0	0	1	0	0	A	108059858	G	A	108059858	2	1	81	1	0	0	0	0	0	0	0	1	10613	1020	36	2		2	NPAT	11	108059858	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	12835	108059858	26946658	9048	12664											
NPAT	4863	broad.mit.edu	37	11	108061207	108061207	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:108061207C>A	ENST00000278612.8	-	5	416	c.311G>T	c.(310-312)aGg>aTg	p.R104M	NPAT_ENST00000610253.1_5'UTR	NM_002519.2	NP_002510.2	Q14207	NPAT_HUMAN	nuclear protein, ataxia-telangiectasia locus	104	Interaction with MIZF.				positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	protein C-terminus binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5)	46		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)		GCCAGCAAACCTTGGGGAACT	0.348													4	40					0.000602214	0.000646338	1	1	0	A	108061207	C	A	108061207	3	1	81	1	0	0	0	0	1	0	0	0	10613	681	24	4	4028	4	NPAT	11	108061207	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1349	108061207	26945309	9049	12665											
NPAT	4863	broad.mit.edu	37	11	108068110	108068110	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:108068110C>T	ENST00000278612.8	-	2	180	c.75G>A	c.(73-75)caG>caA	p.Q25Q	NPAT_ENST00000610253.1_5'UTR	NM_002519.2	NP_002510.2	Q14207	NPAT_HUMAN	nuclear protein, ataxia-telangiectasia locus	25	Interaction with MIZF.|LisH.|Required for activation of histone gene transcription and interaction with MIZF.				positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	protein C-terminus binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5)	46		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)		AAATAAAAGTCTGGCAGGTAG	0.313													38	85					0	0	1	0	0	T	108068110	C	T	108068110	2	4	81	1	0	0	0	0	0	0	0	1	10613	912	32	2		2	NPAT	11	108068110	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	6903	108068110	26938406	9050	12666											
ATM	472	broad.mit.edu	37	11	108121490	108121490	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:108121490C>A	ENST00000278616.4	+	10	1683	c.1298C>A	c.(1297-1299)tCt>tAt	p.S433Y	ATM_ENST00000452508.2_Missense_Mutation_p.S433Y	NM_000051.3	NP_000042	Q13315	ATM_HUMAN	ataxia telangiectasia mutated	433					cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		TGTGAGCTGTCTCCATTACTG	0.383			"D, Mis, N, F, S"		T-PLL	"leukemia, lymphoma, medulloblastoma, glioma"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			14	96					0.00244969	0.00258825	1	1	0	A	108121490	C	A	108121490	3	1	81	1	0	0	0	0	1	0	0	0	1108	913	32	4	1332	4	ATM	11	108121490	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	53380	108121490	26885026	9051	12667											
ATM	472	broad.mit.edu	37	11	108122575	108122575	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:108122575G>A	ENST00000278616.4	+	11	2004	c.1619G>A	c.(1618-1620)tGc>tAc	p.C540Y	ATM_ENST00000452508.2_Missense_Mutation_p.C540Y	NM_000051.3	NP_000042	Q13315	ATM_HUMAN	ataxia telangiectasia mutated	540			C -> Y (in a colorectal adenocarcinoma sample; somatic mutation).		cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding	p.C540Y(1)		NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		CCTGCAGTATGCTGTTTGACT	0.388			"D, Mis, N, F, S"		T-PLL	"leukemia, lymphoma, medulloblastoma, glioma"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			36	40					0	0	1	0	0	A	108122575	G	A	108122575	3	1	81	1	0	0	0	0	1	0	0	0	1108	1319	46	2	1657	2	ATM	11	108122575	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1085	108122575	26883941	9052	12668											
ATM	472	broad.mit.edu	37	11	108153589	108153589	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:108153589T>C	ENST00000278616.4	+	25	4114	c.3729T>C	c.(3727-3729)aaT>aaC	p.N1243N	ATM_ENST00000452508.2_Silent_p.N1243N	NM_000051.3	NP_000042	Q13315	ATM_HUMAN	ataxia telangiectasia mutated	1243					cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding	p.N1240fs*4(1)		NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		ACTACACAAATATTGAGGATT	0.289			"D, Mis, N, F, S"		T-PLL	"leukemia, lymphoma, medulloblastoma, glioma"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			3	29					0	0	1	0	0	C	108153589	T	C	108153589	2	2	81	1	0	0	0	0	0	0	0	1	1108	1403	49	3		3	ATM	11	108153589	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	31014	108153589	26852927	9053	12669											
ATM	472	broad.mit.edu	37	11	108163424	108163424	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:108163424C>T	ENST00000278616.4	+	30	4900	c.4515C>T	c.(4513-4515)gcC>gcT	p.A1505A	ATM_ENST00000452508.2_Silent_p.A1505A	NM_000051.3	NP_000042	Q13315	ATM_HUMAN	ataxia telangiectasia mutated	1505					cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		GCCAGACAGCCGTGACTTACT	0.403			"D, Mis, N, F, S"		T-PLL	"leukemia, lymphoma, medulloblastoma, glioma"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			79	127					0	0	1	0	0	T	108163424	C	T	108163424	2	4	81	1	0	0	0	0	0	0	0	1	1108	639	23	1		1	ATM	11	108163424	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	9835	108163424	26843092	9054	12670											
ATM	472	broad.mit.edu	37	11	108163493	108163493	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:108163493G>A	ENST00000278616.4	+	30	4969	c.4584G>A	c.(4582-4584)gtG>gtA	p.V1528V	ATM_ENST00000452508.2_Silent_p.V1528V	NM_000051.3	NP_000042	Q13315	ATM_HUMAN	ataxia telangiectasia mutated	1528					cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		TACCCCTTGTGTATGAGCAGG	0.358			"D, Mis, N, F, S"		T-PLL	"leukemia, lymphoma, medulloblastoma, glioma"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			59	105					0	0	1	0	0	A	108163493	G	A	108163493	2	1	81	1	0	0	0	0	0	0	0	1	1108	1364	48	2		2	ATM	11	108163493	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	69	108163493	26843023	9055	12671											
ATM	472	broad.mit.edu	37	11	108165730	108165730	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:108165730G>A	ENST00000278616.4	+	32	5238	c.4853G>A	c.(4852-4854)cGa>cAa	p.R1618Q	ATM_ENST00000452508.2_Missense_Mutation_p.R1618Q	NM_000051.3	NP_000042	Q13315	ATM_HUMAN	ataxia telangiectasia mutated	1618					cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding	p.E1612_Q1620>*(1)		NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		AAGGATCTTCGAAGACAACTG	0.358			"D, Mis, N, F, S"		T-PLL	"leukemia, lymphoma, medulloblastoma, glioma"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			49	66					0	0	1	0	0	A	108165730	G	A	108165730	3	1	81	1	0	0	0	0	1	0	0	0	1108	1058	37	1	4975	1	ATM	11	108165730	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2237	108165730	26840786	9056	12672											
ATM	472	broad.mit.edu	37	11	108175415	108175415	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:108175415T>G	ENST00000278616.4	+	37	5895	c.5510T>G	c.(5509-5511)tTt>tGt	p.F1837C	ATM_ENST00000452508.2_Missense_Mutation_p.F1837C	NM_000051.3	NP_000042	Q13315	ATM_HUMAN	ataxia telangiectasia mutated	1837					cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		AAAACTGACTTTTGTCAGACT	0.313			"D, Mis, N, F, S"		T-PLL	"leukemia, lymphoma, medulloblastoma, glioma"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			19	36					0	0	1	0	0	G	108175415	T	G	108175415	3	3	81	1	0	0	0	0	1	0	0	0	1108	1841	64	5	5652	5	ATM	11	108175415	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	9685	108175415	26831101	9057	12673											
ATM	472	broad.mit.edu	37	11	108216544	108216544	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:108216544C>A	ENST00000278616.4	+	58	8878	c.8493C>A	c.(8491-8493)ttC>ttA	p.F2831L	C11orf65_ENST00000526725.1_Intron|ATM_ENST00000452508.2_Missense_Mutation_p.F2831L|C11orf65_ENST00000525729.1_Intron	NM_000051.3	NP_000042	Q13315	ATM_HUMAN	ataxia telangiectasia mutated	2831	PI3K/PI4K.				cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		AACCAGTTTTCCGTTACTTCT	0.343			"D, Mis, N, F, S"		T-PLL	"leukemia, lymphoma, medulloblastoma, glioma"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			10	177					0.00829132	0.00865729	1	1	0	A	108216544	C	A	108216544	3	1	81	1	0	0	0	0	1	0	0	0	1108	854	30	5	8719	5	ATM	11	108216544	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	41129	108216544	26789972	9058	12674											
EXPH5	23086	broad.mit.edu	37	11	108381794	108381794	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:108381794C>T	ENST00000265843.4	-	6	4550	c.4440G>A	c.(4438-4440)caG>caA	p.Q1480Q	EXPH5_ENST00000428840.1_Silent_p.Q1404Q|EXPH5_ENST00000443411.1_Silent_p.Q1292Q|EXPH5_ENST00000525344.1_Silent_p.Q1473Q	NM_015065.2	NP_055880	Q149M6	Q149M6_HUMAN	exophilin 5	1480					intracellular protein transport		Rab GTPase binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		CTTCCCTAGGCTGTGATCCAC	0.483													12	17					0	0	1	0	0	T	108381794	C	T	108381794	2	4	81	1	0	0	0	0	0	0	0	1	5350	796	28	2		2	EXPH5	11	108381794	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	165250	108381794	26624722	9059	12675											
EXPH5	23086	broad.mit.edu	37	11	108382390	108382390	+	Missense_Mutation	SNP	G	G	T	rs146263472		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:108382390G>T	ENST00000265843.4	-	6	3954	c.3844C>A	c.(3844-3846)Cct>Act	p.P1282T	EXPH5_ENST00000428840.1_Missense_Mutation_p.P1206T|EXPH5_ENST00000443411.1_Missense_Mutation_p.P1094T|EXPH5_ENST00000525344.1_Missense_Mutation_p.P1275T	NM_015065.2	NP_055880	Q149M6	Q149M6_HUMAN	exophilin 5	1282					intracellular protein transport		Rab GTPase binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		TCCACTTGAGGTGATTCTATA	0.358													18	56					3.52763e-06	4.02143e-06	1	1	0	T	108382390	G	T	108382390	3	4	81	1	0	0	0	0	1	0	0	0	5350	1261	44	5	2129	5	EXPH5	11	108382390	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	596	108382390	26624126	9060	12676											
EXPH5	23086	broad.mit.edu	37	11	108409862	108409862	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:108409862delT	ENST00000265843.4	-	3	442	c.332delA	c.(331-333)aagfs	p.K111fs	EXPH5_ENST00000525344.1_Frame_Shift_Del_p.K104fs|EXPH5_ENST00000428840.1_Frame_Shift_Del_p.K35fs	NM_015065.2	NP_055880	Q149M6	Q149M6_HUMAN	exophilin 5	111					intracellular protein transport		Rab GTPase binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		AGGTGTCGGCTTTTTTTGATT	0.348													7	127	---	---	---	---						-	108409862	T	-	108409862	7	5	81	1	0	1	0	1	0	0	0	0	5350	1609	56	0	5653	0	EXPH5	11	108409862	Frame_Shift_Del	DEL	T	TCGA-DU-6392-01A-11D-1705-08	27472	108409862	26596654	9061	12677											
DDX10	1662	broad.mit.edu	37	11	108547831	108547831	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:108547831G>A	ENST00000526794.1	+	4	430	c.398G>A	c.(397-399)cGt>cAt	p.R133H	DDX10_ENST00000322536.3_Missense_Mutation_p.R133H			Q13206	DDX10_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 10	133	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|prostate(2)	27		all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729)		BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133)		GCCTTATATCGTCTGCAATGG	0.453			T	NUP98	AML*								30	71					0	0	1	0	0	A	108547831	G	A	108547831	3	1	81	1	0	0	0	0	1	0	0	0	4365	1145	40	1	412	1	DDX10	11	108547831	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	137969	108547831	26458685	9062	12678											
DDX10	1662	broad.mit.edu	37	11	108559743	108559743	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:108559743G>A	ENST00000526794.1	+	7	961	c.929G>A	c.(928-930)aGc>aAc	p.S310N	DDX10_ENST00000322536.3_Missense_Mutation_p.S310N			Q13206	DDX10_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 10	310	Helicase C-terminal.						ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|prostate(2)	27		all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729)		BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133)		TTTTTGAGAAGCCATCTGAAG	0.388			T	NUP98	AML*								83	179					0	0	1	0	0	A	108559743	G	A	108559743	3	1	81	1	0	0	0	0	1	0	0	0	4365	971	34	2	955	2	DDX10	11	108559743	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	11912	108559743	26446773	9063	12679											
DDX10	1662	broad.mit.edu	37	11	108594046	108594046	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:108594046C>T	ENST00000526794.1	+	13	1854	c.1822C>T	c.(1822-1824)Cct>Tct	p.P608S	DDX10_ENST00000322536.3_Missense_Mutation_p.P608S			Q13206	DDX10_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 10	608							ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity	p.E594_E618del(1)		breast(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|prostate(2)	27		all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729)		BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133)		CCCATCTCTTCCTAACACCAG	0.433			T	NUP98	AML*								22	22					0	0	1	0	0	T	108594046	C	T	108594046	3	4	81	1	0	0	0	0	1	0	0	0	4365	855	30	2	1872	2	DDX10	11	108594046	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	34303	108594046	26412470	9064	12680											
ZC3H12C	85463	broad.mit.edu	37	11	110023742	110023742	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:110023742C>T	ENST00000453089.2	+	2	1660	c.779C>T	c.(778-780)gCt>gTt	p.A260V	ZC3H12C_ENST00000278590.3_Missense_Mutation_p.A291V|ZC3H12C_ENST00000528673.1_Missense_Mutation_p.A292V			Q9C0D7	ZC12C_HUMAN	zinc finger CCCH-type containing 12C	291							endonuclease activity|nucleic acid binding|zinc ion binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_cancers(61;3.24e-13)|all_epithelial(67;1.27e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.72e-06)|BRCA - Breast invasive adenocarcinoma(274;1.17e-05)|all cancers(92;9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0279)		TTTGTTCCTGCTTGGAGGAAA	0.438													5	14					0	0	1	0	0	T	110023742	C	T	110023742	3	4	81	1	0	0	0	0	1	0	0	0	17622	797	28	2	882	2	ZC3H12C	11	110023742	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1429696	110023742	24982774	9065	12681											
ZC3H12C	85463	broad.mit.edu	37	11	110030072	110030072	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:110030072C>T	ENST00000453089.2	+	3	1793	c.912C>T	c.(910-912)gaC>gaT	p.D304D	ZC3H12C_ENST00000278590.3_Silent_p.D335D|ZC3H12C_ENST00000528673.1_Silent_p.D336D			Q9C0D7	ZC12C_HUMAN	zinc finger CCCH-type containing 12C	335							endonuclease activity|nucleic acid binding|zinc ion binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_cancers(61;3.24e-13)|all_epithelial(67;1.27e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.72e-06)|BRCA - Breast invasive adenocarcinoma(274;1.17e-05)|all cancers(92;9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0279)		TGTGCTATGACGACAGGTTCA	0.473													8	12					0	0	1	0	0	T	110030072	C	T	110030072	2	4	81	1	0	0	0	0	0	0	0	1	17622	535	19	1		1	ZC3H12C	11	110030072	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	6330	110030072	24976444	9066	12682											
ZC3H12C	85463	broad.mit.edu	37	11	110035300	110035300	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:110035300C>T	ENST00000453089.2	+	5	2278	c.1397C>T	c.(1396-1398)aCa>aTa	p.T466I	ZC3H12C_ENST00000278590.3_Missense_Mutation_p.T497I|ZC3H12C_ENST00000528673.1_Missense_Mutation_p.T498I			Q9C0D7	ZC12C_HUMAN	zinc finger CCCH-type containing 12C	497							endonuclease activity|nucleic acid binding|zinc ion binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_cancers(61;3.24e-13)|all_epithelial(67;1.27e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.72e-06)|BRCA - Breast invasive adenocarcinoma(274;1.17e-05)|all cancers(92;9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0279)		AGCATAAGGACACAAGTCTAC	0.453													7	60					0	0	1	0	0	T	110035300	C	T	110035300	3	4	81	1	0	0	0	0	1	0	0	0	17622	478	17	2	1512	2	ZC3H12C	11	110035300	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	5228	110035300	24971216	9067	12683											
RDX	5962	broad.mit.edu	37	11	110102601	110102601	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:110102601G>A	ENST00000343115.4	-	14	2064	c.1745C>T	c.(1744-1746)gCa>gTa	p.A582V	RDX_ENST00000528900.1_Missense_Mutation_p.A235V|RDX_ENST00000528498.1_Missense_Mutation_p.A582V|RDX_ENST00000530301.1_Missense_Mutation_p.A178V|RDX_ENST00000405097.1_Missense_Mutation_p.A582V|RDX_ENST00000544551.1_Missense_Mutation_p.A446V	NM_001260494.1|NM_002906.3	NP_001247423.1|NP_002897.1	P35241	RADI_HUMAN	radixin	582					actin filament capping	cleavage furrow|cytoskeleton|extrinsic to membrane|Golgi apparatus|nucleolus|plasma membrane	actin binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	18		all_cancers(61;7.18e-13)|all_epithelial(67;2.61e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.13e-06)|BRCA - Breast invasive adenocarcinoma(274;9.75e-06)|all cancers(92;5.9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0248)		CTCTCACATTGCTTCAAACTC	0.428													19	217					0	0	1	0	0	A	110102601	G	A	110102601	3	1	81	1	0	0	0	0	1	0	0	0	13250	1319	46	2	10	2	RDX	11	110102601	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	67301	110102601	24903915	9068	12684											
RDX	5962	broad.mit.edu	37	11	110124681	110124681	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:110124681G>A	ENST00000343115.4	-	9	1268	c.949C>T	c.(949-951)Cag>Tag	p.Q317*	RDX_ENST00000528900.1_Intron|RDX_ENST00000528498.1_Nonsense_Mutation_p.Q317*|RDX_ENST00000530301.1_Intron|RDX_ENST00000405097.1_Nonsense_Mutation_p.Q317*|RDX_ENST00000544551.1_Nonsense_Mutation_p.Q181*	NM_001260494.1|NM_002906.3	NP_001247423.1|NP_002897.1	P35241	RADI_HUMAN	radixin	317	Glu-rich.				actin filament capping	cleavage furrow|cytoskeleton|extrinsic to membrane|Golgi apparatus|nucleolus|plasma membrane	actin binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	18		all_cancers(61;7.18e-13)|all_epithelial(67;2.61e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.13e-06)|BRCA - Breast invasive adenocarcinoma(274;9.75e-06)|all cancers(92;5.9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0248)		CTTTCCAACTGCTTCTGATGT	0.373													35	45					0	0	1	0	0	A	110124681	G	A	110124681	4	1	81	1	0	0	0	0	0	1	0	0	13250	1328	46	2	826	2	RDX	11	110124681	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	22080	110124681	24881835	9069	12685											
RDX	5962	broad.mit.edu	37	11	110124812	110124812	+	Missense_Mutation	SNP	C	C	T	rs142346566	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:110124812C>T	ENST00000343115.4	-	9	1137	c.818G>A	c.(817-819)cGt>cAt	p.R273H	RDX_ENST00000528900.1_Intron|RDX_ENST00000528498.1_Missense_Mutation_p.R273H|RDX_ENST00000530301.1_Intron|RDX_ENST00000405097.1_Missense_Mutation_p.R273H|RDX_ENST00000544551.1_Missense_Mutation_p.R137H	NM_001260494.1|NM_002906.3	NP_001247423.1|NP_002897.1	P35241	RADI_HUMAN	radixin	273	FERM.				actin filament capping	cleavage furrow|cytoskeleton|extrinsic to membrane|Golgi apparatus|nucleolus|plasma membrane	actin binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	18		all_cancers(61;7.18e-13)|all_epithelial(67;2.61e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.13e-06)|BRCA - Breast invasive adenocarcinoma(274;9.75e-06)|all cancers(92;5.9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0248)		GATTCTCAGACGAGGTGCATA	0.343													22	22					0	0	1	0	0	T	110124812	C	T	110124812	3	4	81	1	0	0	0	0	1	0	0	0	13250	536	19	1	957	1	RDX	11	110124812	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	131	110124812	24881704	9070	12686											
RDX	5962	broad.mit.edu	37	11	110128576	110128576	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:110128576T>C	ENST00000343115.4	-	7	933	c.614A>G	c.(613-615)tAt>tGt	p.Y205C	RDX_ENST00000528900.1_Intron|RDX_ENST00000528498.1_Missense_Mutation_p.Y205C|RDX_ENST00000530301.1_Intron|RDX_ENST00000405097.1_Missense_Mutation_p.Y205C|RDX_ENST00000544551.1_Missense_Mutation_p.Y69C	NM_001260494.1|NM_002906.3	NP_001247423.1|NP_002897.1	P35241	RADI_HUMAN	radixin	205	FERM.				actin filament capping	cleavage furrow|cytoskeleton|extrinsic to membrane|Golgi apparatus|nucleolus|plasma membrane	actin binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	18		all_cancers(61;7.18e-13)|all_epithelial(67;2.61e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.13e-06)|BRCA - Breast invasive adenocarcinoma(274;9.75e-06)|all cancers(92;5.9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0248)		TATTTCAAAATAGTTGACTCC	0.313													5	80					0	0	1	0	0	C	110128576	T	C	110128576	3	2	81	1	0	0	0	0	1	0	0	0	13250	1406	49	3	1169	3	RDX	11	110128576	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	3764	110128576	24877940	9071	12687											
ARHGAP20	57569	broad.mit.edu	37	11	110450366	110450366	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:110450366A>G	ENST00000260283.4	-	16	3588	c.3304T>C	c.(3304-3306)Tcc>Ccc	p.S1102P	ARHGAP20_ENST00000524756.1_Missense_Mutation_p.S1079P|ARHGAP20_ENST00000529591.1_Missense_Mutation_p.S645P|ARHGAP20_ENST00000357139.3_Missense_Mutation_p.S1076P|ARHGAP20_ENST00000528829.1_Missense_Mutation_p.S1066P|ARHGAP20_ENST00000527598.1_Missense_Mutation_p.S1066P|ARHGAP20_ENST00000533353.1_Missense_Mutation_p.S1076P	NM_020809.3	NP_065860.2	Q9P2F6	RHG20_HUMAN	Rho GTPase activating protein 20	1102					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	60		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)		TGCACAGGGGACAGTCCTTCA	0.532													27	51					0	0	1	0	0	G	110450366	A	G	110450366	3	3	81	1	0	0	0	0	1	0	0	0	867	275	10	3	275	3	ARHGAP20	11	110450366	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	321790	110450366	24556150	9072	12688											
ARHGAP20	57569	broad.mit.edu	37	11	110451054	110451054	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:110451054G>T	ENST00000260283.4	-	16	2900	c.2616C>A	c.(2614-2616)agC>agA	p.S872R	ARHGAP20_ENST00000524756.1_Missense_Mutation_p.S849R|ARHGAP20_ENST00000529591.1_Missense_Mutation_p.S415R|ARHGAP20_ENST00000357139.3_Missense_Mutation_p.S846R|ARHGAP20_ENST00000528829.1_Missense_Mutation_p.S836R|ARHGAP20_ENST00000527598.1_Missense_Mutation_p.S836R|ARHGAP20_ENST00000533353.1_Missense_Mutation_p.S846R	NM_020809.3	NP_065860.2	Q9P2F6	RHG20_HUMAN	Rho GTPase activating protein 20	872					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	60		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)		CAGCTTCACAGCTGGTTTTAT	0.463													9	117					3.09899e-07	3.60815e-07	1	1	0	T	110451054	G	T	110451054	3	4	81	1	0	0	0	0	1	0	0	0	867	962	34	4	963	4	ARHGAP20	11	110451054	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	688	110451054	24555462	9073	12689											
ARHGAP20	57569	broad.mit.edu	37	11	110451259	110451259	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:110451259G>A	ENST00000260283.4	-	16	2695	c.2411C>T	c.(2410-2412)gCa>gTa	p.A804V	ARHGAP20_ENST00000524756.1_Missense_Mutation_p.A781V|ARHGAP20_ENST00000529591.1_Missense_Mutation_p.A347V|ARHGAP20_ENST00000357139.3_Missense_Mutation_p.A778V|ARHGAP20_ENST00000528829.1_Missense_Mutation_p.A768V|ARHGAP20_ENST00000527598.1_Missense_Mutation_p.A768V|ARHGAP20_ENST00000533353.1_Missense_Mutation_p.A778V	NM_020809.3	NP_065860.2	Q9P2F6	RHG20_HUMAN	Rho GTPase activating protein 20	804					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	60		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)		ACTATAAGATGCCACAGAAAT	0.448													39	75					0	0	1	0	0	A	110451259	G	A	110451259	3	1	81	1	0	0	0	0	1	0	0	0	867	1319	46	2	1168	2	ARHGAP20	11	110451259	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	205	110451259	24555257	9074	12690											
ARHGAP20	57569	broad.mit.edu	37	11	110451634	110451634	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:110451634G>A	ENST00000260283.4	-	16	2320	c.2036C>T	c.(2035-2037)gCc>gTc	p.A679V	ARHGAP20_ENST00000524756.1_Missense_Mutation_p.A656V|ARHGAP20_ENST00000529591.1_Missense_Mutation_p.A222V|ARHGAP20_ENST00000357139.3_Missense_Mutation_p.A653V|ARHGAP20_ENST00000528829.1_Missense_Mutation_p.A643V|ARHGAP20_ENST00000527598.1_Missense_Mutation_p.A643V|ARHGAP20_ENST00000533353.1_Missense_Mutation_p.A653V	NM_020809.3	NP_065860.2	Q9P2F6	RHG20_HUMAN	Rho GTPase activating protein 20	679					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	60		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)		TGTGCACATGGCAGATGGGGC	0.532													31	30					0	0	1	0	0	A	110451634	G	A	110451634	3	1	81	1	0	0	0	0	1	0	0	0	867	1203	42	2	1543	2	ARHGAP20	11	110451634	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	375	110451634	24554882	9075	12691											
ARHGAP20	57569	broad.mit.edu	37	11	110462832	110462832	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:110462832C>T	ENST00000260283.4	-	11	1296	c.1012G>A	c.(1012-1014)Gcc>Acc	p.A338T	ARHGAP20_ENST00000524756.1_Missense_Mutation_p.A315T|ARHGAP20_ENST00000357139.3_Missense_Mutation_p.A312T|ARHGAP20_ENST00000528829.1_Missense_Mutation_p.A302T|ARHGAP20_ENST00000527598.1_Missense_Mutation_p.A302T|ARHGAP20_ENST00000533353.1_Missense_Mutation_p.A312T	NM_020809.3	NP_065860.2	Q9P2F6	RHG20_HUMAN	Rho GTPase activating protein 20	338					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	60		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)		CGCCAGAAGGCCCAGTTTATG	0.403													30	90					0	0	1	0	0	T	110462832	C	T	110462832	3	4	81	1	0	0	0	0	1	0	0	0	867	739	26	2	2587	2	ARHGAP20	11	110462832	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	11198	110462832	24543684	9076	12692											
ARHGAP20	57569	broad.mit.edu	37	11	110485284	110485284	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:110485284C>T	ENST00000260283.4	-	7	915		c.e7+1		ARHGAP20_ENST00000524756.1_Splice_Site|ARHGAP20_ENST00000357139.3_Splice_Site|ARHGAP20_ENST00000528829.1_Splice_Site|ARHGAP20_ENST00000527598.1_Splice_Site|ARHGAP20_ENST00000533353.1_Splice_Site	NM_020809.3	NP_065860.2	Q9P2F6	RHG20_HUMAN	Rho GTPase activating protein 20						regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	60		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)		GAAACACTTACGTAGGCACAA	0.433													31	47					0	0	1	0	0	T	110485284	C	T	110485284	5	4	81	1	0	0	0	0	0	0	1	0	867	550	19	1	2984	1	ARHGAP20	11	110485284	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	22452	110485284	24521232	9077	12693											
BTG4	54766	broad.mit.edu	37	11	111369364	111369364	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:111369364C>T	ENST00000525791.1	-	2	322	c.138G>A	c.(136-138)tgG>tgA	p.W46*	BTG4_ENST00000356018.2_Nonsense_Mutation_p.W46*			Q9NY30	BTG4_HUMAN	B-cell translocation gene 4	46					cell cycle arrest|negative regulation of cell proliferation|neuron differentiation					large_intestine(2)|upper_aerodigestive_tract(1)	3		all_cancers(61;3.78e-13)|all_epithelial(67;5.29e-08)|Melanoma(852;3.15e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0204)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;1.22e-06)|BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|all cancers(92;2.18e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0509)		AATCAGAGTGCCAGTGACTTC	0.433													18	33					0	0	1	0	0	T	111369364	C	T	111369364	4	4	81	1	0	0	0	0	0	1	0	0	1559	740	26	2	553	2	BTG4	11	111369364	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	884080	111369364	23637152	9078	12694											
SIK2	23235	broad.mit.edu	37	11	111583019	111583019	+	Missense_Mutation	SNP	G	G	A	rs142089853	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:111583019G>A	ENST00000304987.3	+	9	1359	c.1186G>A	c.(1186-1188)Gtg>Atg	p.V396M		NM_015191.1	NP_056006.1	Q9H0K1	SIK2_HUMAN	salt-inducible kinase 2	396					intracellular protein kinase cascade|regulation of insulin receptor signaling pathway	Golgi apparatus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	30						GGCATCCAACGTGGAGGCCTT	0.542													4	59					0	0	1	0	0	A	111583019	G	A	111583019	3	1	81	1	0	0	0	0	1	0	0	0	14373	1145	40	1	1220	1	SIK2	11	111583019	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	213655	111583019	23423497	9079	12695											
SIK2	23235	broad.mit.edu	37	11	111591742	111591742	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:111591742C>T	ENST00000304987.3	+	12	2073	c.1900C>T	c.(1900-1902)Ccg>Tcg	p.P634S		NM_015191.1	NP_056006.1	Q9H0K1	SIK2_HUMAN	salt-inducible kinase 2	634					intracellular protein kinase cascade|regulation of insulin receptor signaling pathway	Golgi apparatus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	30						TAACCTGGCGCCGGCGGCTCC	0.532													23	54					0	0	1	0	0	T	111591742	C	T	111591742	3	4	81	1	0	0	0	0	1	0	0	0	14373	739	26	2	1946	2	SIK2	11	111591742	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	8723	111591742	23414774	9080	12696											
FDXACB1	91893	broad.mit.edu	37	11	111746477	111746477	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:111746477T>C	ENST00000260257.4	-	5	1091	c.1044A>G	c.(1042-1044)agA>agG	p.R348R	FDXACB1_ENST00000542429.1_Silent_p.R199R|ALG9_ENST00000524880.1_Intron|ALG9_ENST00000527377.1_5'UTR	NM_138378.2	NP_612387.1	Q9BRP7	FDXA1_HUMAN	ferredoxin-fold anticodon binding domain containing 1	348					phenylalanyl-tRNA aminoacylation|tRNA processing		ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|tRNA binding			endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(3)	19						GGAGAGAAGGTCTAAGGCAGA	0.473													52	50					0	0	1	0	0	C	111746477	T	C	111746477	2	2	81	1	0	0	0	0	0	0	0	1	5839	1664	58	3		3	FDXACB1	11	111746477	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	154735	111746477	23260039	9081	12697											
PIH1D2	120379	broad.mit.edu	37	11	111941312	111941312	+	Missense_Mutation	SNP	T	T	C	rs139191181		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:111941312T>C	ENST00000530641.1	-	5	986	c.661A>G	c.(661-663)Att>Gtt	p.I221V	PIH1D2_ENST00000280350.4_Missense_Mutation_p.I221V|PIH1D2_ENST00000431456.1_Missense_Mutation_p.I221V|PIH1D2_ENST00000532211.1_Missense_Mutation_p.I221V|PIH1D2_ENST00000528775.1_Missense_Mutation_p.I221V			Q8WWB5	PIHD2_HUMAN	PIH1 domain containing 2	221										endometrium(2)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	11		all_cancers(61;1.09e-14)|all_epithelial(67;7.64e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;3.19e-07)|BRCA - Breast invasive adenocarcinoma(274;6.17e-07)|all cancers(92;6.18e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0508)		GTACTGGAAATCTCTTCTATC	0.408													36	178					0	0	1	0	0	C	111941312	T	C	111941312	3	2	81	1	0	0	0	0	1	0	0	0	11955	1435	50	3	352	3	PIH1D2	11	111941312	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	194835	111941312	23065204	9082	12698											
C11orf57	55216	broad.mit.edu	37	11	111953686	111953686	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:111953686A>G	ENST00000532163.1	+	6	1551	c.785A>G	c.(784-786)gAg>gGg	p.E262G	C11orf57_ENST00000393047.3_Missense_Mutation_p.E291G|C11orf57_ENST00000420986.2_Missense_Mutation_p.E290G|C11orf57_ENST00000280352.9_Missense_Mutation_p.E290G			Q6ZUT1	CK057_HUMAN	chromosome 11 open reading frame 57	290										autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)	12		all_cancers(61;9.8e-15)|all_epithelial(67;6.57e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;3.6e-07)|BRCA - Breast invasive adenocarcinoma(274;6.17e-07)|all cancers(92;7.01e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0521)		GAGAGCTCAGAGGATGACTAA	0.433													12	30					0	0	1	0	0	G	111953686	A	G	111953686	3	3	81	1	0	0	0	0	1	0	0	0	1655	304	11	3	890	3	C11orf57	11	111953686	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	12374	111953686	23052830	9083	12699											
IL18	3606	broad.mit.edu	37	11	112020819	112020819	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:112020819C>A	ENST00000280357.7	-	4	421	c.202G>T	c.(202-204)Gat>Tat	p.D68Y	IL18_ENST00000524595.1_Missense_Mutation_p.D64Y|SDHD_ENST00000532699.1_Intron|IL18_ENST00000528832.1_Missense_Mutation_p.D68Y|IL18_ENST00000533858.1_5'UTR	NM_001562.3	NP_001553.1	Q14116	IL18_HUMAN	interleukin 18 (interferon-gamma-inducing factor)	68					angiogenesis|cell-cell signaling|chemokine biosynthetic process|granulocyte macrophage colony-stimulating factor biosynthetic process|interferon-gamma biosynthetic process|interleukin-13 biosynthetic process|interleukin-2 biosynthetic process|positive regulation of activated T cell proliferation|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of interferon-gamma production|positive regulation of interleukin-17 production|positive regulation of natural killer cell proliferation|positive regulation of NK T cell proliferation|regulation of cell adhesion|sleep|T-helper 1 type immune response|type 2 immune response	cytosol|extracellular space	cytokine activity|signal transducer activity						all_cancers(61;5.7e-14)|all_epithelial(67;3.4e-08)|Melanoma(852;8.81e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;6.72e-07)|Epithelial(105;8.15e-07)|all cancers(92;1.43e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.055)		TCAGTCATATCTTCAAATAGA	0.343													5	81					0.248553	0.249876	1	1	0	A	112020819	C	A	112020819	3	1	81	1	0	0	0	0	1	0	0	0	7689	913	32	4	391	4	IL18	11	112020819	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	67133	112020819	22985697	9084	12700											
TTC12	54970	broad.mit.edu	37	11	113211391	113211391	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:113211391G>T	ENST00000393020.1	+	11	1237	c.832G>T	c.(832-834)Gaa>Taa	p.E278*	TTC12_ENST00000529221.1_Nonsense_Mutation_p.E278*|TTC12_ENST00000314756.3_Nonsense_Mutation_p.E278*|TTC12_ENST00000483239.2_Nonsense_Mutation_p.E284*			Q9H892	TTC12_HUMAN	tetratricopeptide repeat domain 12	278							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		all_cancers(61;2.73e-16)|all_epithelial(67;8.64e-10)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.183)|Renal(330;0.187)		BRCA - Breast invasive adenocarcinoma(274;5.3e-06)|Epithelial(105;8.37e-05)|all cancers(92;0.000694)		TTCAGGCACAGAACAAACTTT	0.443													6	62					0.0381472	0.0389402	1	1	0	T	113211391	G	T	113211391	4	4	81	1	0	0	0	0	0	1	0	0	16741	943	33	4	870	4	TTC12	11	113211391	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1190572	113211391	21795125	9085	12701											
TTC12	54970	broad.mit.edu	37	11	113233177	113233177	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:113233177G>T	ENST00000393020.1	+	19	2074	c.1669G>T	c.(1669-1671)Gag>Tag	p.E557*	TTC12_ENST00000529221.1_Nonsense_Mutation_p.E557*|TTC12_ENST00000314756.3_Nonsense_Mutation_p.E557*|TTC12_ENST00000483239.2_Nonsense_Mutation_p.E563*			Q9H892	TTC12_HUMAN	tetratricopeptide repeat domain 12	557							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		all_cancers(61;2.73e-16)|all_epithelial(67;8.64e-10)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.183)|Renal(330;0.187)		BRCA - Breast invasive adenocarcinoma(274;5.3e-06)|Epithelial(105;8.37e-05)|all cancers(92;0.000694)		AATTGTTGAGGAGGCCTTGCG	0.418													20	52					1.90627e-21	2.4965e-21	1	1	0	T	113233177	G	T	113233177	4	4	81	1	0	0	0	0	0	1	0	0	16741	1175	41	5	1739	5	TTC12	11	113233177	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	21786	113233177	21773339	9086	12702											
TTC12	54970	broad.mit.edu	37	11	113235565	113235565	+	Missense_Mutation	SNP	G	G	A	rs141446456		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:113235565G>A	ENST00000529221.1	+	21	1930	c.1825G>A	c.(1825-1827)Gtt>Att	p.V609I	TTC12_ENST00000314756.3_Missense_Mutation_p.V609I|TTC12_ENST00000483239.2_Missense_Mutation_p.V615I|TTC12_ENST00000393020.1_Intron	NM_017868.3	NP_060338.3	Q9H892	TTC12_HUMAN	tetratricopeptide repeat domain 12	609							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		all_cancers(61;2.73e-16)|all_epithelial(67;8.64e-10)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.183)|Renal(330;0.187)		BRCA - Breast invasive adenocarcinoma(274;5.3e-06)|Epithelial(105;8.37e-05)|all cancers(92;0.000694)		AGAGTTGAGCGTTATGATGAA	0.542													16	17					0	0	1	0	0	A	113235565	G	A	113235565	3	1	81	1	0	0	0	0	1	0	0	0	16741	1145	40	1	1903	1	TTC12	11	113235565	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2388	113235565	21770951	9087	12703											
ZW10	9183	broad.mit.edu	37	11	113607481	113607481	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:113607481G>A	ENST00000200135.3	-	15	2224	c.2080C>T	c.(2080-2082)Ccc>Tcc	p.P694S		NM_004724.3	NP_004715.1	O43264	ZW10_HUMAN	zw10 kinetochore protein	694					cell division|ER to Golgi vesicle-mediated transport|establishment of mitotic spindle orientation|meiosis|mitotic cell cycle checkpoint|mitotic metaphase plate congression|mitotic prometaphase|protein complex assembly|protein localization to kinetochore|protein transport|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|endoplasmic reticulum membrane|kinetochore microtubule|nucleus|spindle pole	centromeric DNA binding|protein binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	18		all_cancers(61;3.84e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000237)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.94e-06)|Epithelial(105;0.000103)|all cancers(92;0.000786)		AATACTTGGGGTCCTTCATCC	0.373													57	123					0	0	1	0	0	A	113607481	G	A	113607481	3	1	81	1	0	0	0	0	1	0	0	0	18287	1261	44	2	267	2	ZW10	11	113607481	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	371916	113607481	21399035	9088	12704											
CLDN25	644672	broad.mit.edu	37	11	113650928	113650928	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:113650928C>A	ENST00000453129.2	+	1	460	c.411C>A	c.(409-411)gtC>gtA	p.V137V		NM_001101389.1	NP_001094859.1	C9JDP6	CLD25_HUMAN	claudin 25	137						integral to membrane|tight junction	structural molecule activity			large_intestine(1)|lung(6)|ovary(1)|urinary_tract(2)	10						TCCTTCCAGTCTCCTGGGTGG	0.567													28	32					5.45727e-16	6.98592e-16	1	1	0	A	113650928	C	A	113650928	2	1	81	1	0	0	0	0	0	0	0	1	3508	900	32	4		4	CLDN25	11	113650928	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	43447	113650928	21355588	9089	12705											
USP28	57646	broad.mit.edu	37	11	113673879	113673879	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:113673879C>A	ENST00000003302.4	-	23	2931		c.e23+1		USP28_ENST00000260188.5_Splice_Site|USP28_ENST00000545540.1_Splice_Site|USP28_ENST00000544967.1_Splice_Site	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN	ubiquitin specific peptidase 28						cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process	nucleolus|nucleoplasm	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		ACAGTACAAACCAGAAGGCAT	0.458													25	87					6.32553e-13	7.94418e-13	1	1	0	A	113673879	C	A	113673879	5	1	81	1	0	0	0	0	0	0	1	0	17118	521	18	5	382	5	USP28	11	113673879	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	22951	113673879	21332637	9090	12706											
USP28	57646	broad.mit.edu	37	11	113673911	113673911	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:113673911A>G	ENST00000003302.4	-	23	2899	c.2831T>C	c.(2830-2832)gTg>gCg	p.V944A	USP28_ENST00000260188.5_Missense_Mutation_p.V912A|USP28_ENST00000545540.1_Missense_Mutation_p.V787A|USP28_ENST00000544967.1_Missense_Mutation_p.V620A	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN	ubiquitin specific peptidase 28	944					cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process	nucleolus|nucleoplasm	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		TAAAGCAATCACGGATTCTTT	0.463													8	98					0	0	1	0	0	G	113673911	A	G	113673911	3	3	81	1	0	0	0	0	1	0	0	0	17118	159	6	3	414	3	USP28	11	113673911	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	32	113673911	21332605	9091	12707											
USP28	57646	broad.mit.edu	37	11	113683095	113683095	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:113683095G>T	ENST00000003302.4	-	16	1943	c.1875C>A	c.(1873-1875)tcC>tcA	p.S625S	USP28_ENST00000260188.5_Silent_p.S625S|USP28_ENST00000545540.1_Silent_p.S500S|USP28_ENST00000544967.1_Silent_p.S333S	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN	ubiquitin specific peptidase 28	625					cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process	nucleolus|nucleoplasm	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		CTTCTTCCCAGGAAGATTCAG	0.418													5	100					0.184627	0.18622	1	1	0	T	113683095	G	T	113683095	2	4	81	1	0	0	0	0	0	0	0	1	17118	987	35	4		4	USP28	11	113683095	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	9184	113683095	21323421	9092	12708											
USP28	57646	broad.mit.edu	37	11	113698033	113698033	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:113698033A>G	ENST00000003302.4	-	11	1177	c.1109T>C	c.(1108-1110)tTt>tCt	p.F370S	USP28_ENST00000260188.5_Missense_Mutation_p.F370S|USP28_ENST00000537706.1_Missense_Mutation_p.F370S|USP28_ENST00000545540.1_Missense_Mutation_p.F245S|USP28_ENST00000544967.1_Missense_Mutation_p.F78S	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN	ubiquitin specific peptidase 28	370					cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process	nucleolus|nucleoplasm	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		ATTAAACTCAAATCTTGAGAG	0.363													28	33					0	0	1	0	0	G	113698033	A	G	113698033	3	3	81	1	0	0	0	0	1	0	0	0	17118	14	1	3	2184	3	USP28	11	113698033	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	14938	113698033	21308483	9093	12709											
HTR3A	3359	broad.mit.edu	37	11	113857370	113857370	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:113857370C>A	ENST00000504030.2	+	7	1281	c.836C>A	c.(835-837)aCa>aAa	p.T279K	HTR3A_ENST00000299961.5_Missense_Mutation_p.T264K|HTR3A_ENST00000506841.2_Missense_Mutation_p.T279K|HTR3A_ENST00000355556.2_Missense_Mutation_p.T285K|HTR3A_ENST00000535865.1_Missense_Mutation_p.T23K|HTR3A_ENST00000375498.2_Missense_Mutation_p.T285K			P46098	5HT3A_HUMAN	5-hydroxytryptamine (serotonin) receptor 3A, ionotropic	279					digestion|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199)	TTCAAGATTACACTCCTCCTG	0.587													4	49					2.56e-06	2.92664e-06	1	1	0	A	113857370	C	A	113857370	3	1	81	1	0	0	0	0	1	0	0	0	7488	478	17	5	906	5	HTR3A	11	113857370	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	159337	113857370	21149146	9094	12710											
ZBTB16	7704	broad.mit.edu	37	11	114121089	114121089	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:114121089C>T	ENST00000335953.4	+	7	2214	c.1834C>T	c.(1834-1836)Cgg>Tgg	p.R612W	ZBTB16_ENST00000392996.2_Missense_Mutation_p.R612W|ZBTB16_ENST00000535379.1_3'UTR|RP11-64D24.2_ENST00000544925.1_RNA	NM_006006.4	NP_005997.2	Q05516	ZBT16_HUMAN	zinc finger and BTB domain containing 16	612					apoptosis|central nervous system development|mesonephros development|myeloid cell differentiation|negative regulation of myeloid cell differentiation|negative regulation of transcription, DNA-dependent	nuclear speck|PML body|transcriptional repressor complex	protein homodimerization activity|zinc ion binding			central_nervous_system(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(2)	6		all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438)		BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018)		CCAGCGCTCCCGGGACTACTC	0.617													10	75					0	0	1	0	0	T	114121089	C	T	114121089	3	4	81	1	0	0	0	0	1	0	0	0	17585	643	23	1	1856	1	ZBTB16	11	114121089	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	263719	114121089	20885427	9095	12711											
REXO2	25996	broad.mit.edu	37	11	114320644	114320644	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:114320644G>T	ENST00000265881.5	+	7	804	c.661G>T	c.(661-663)Gaa>Taa	p.E221*	REXO2_ENST00000544507.1_3'UTR|REXO2_ENST00000538791.1_Nonsense_Mutation_p.E131*|REXO2_ENST00000539754.1_Nonsense_Mutation_p.E206*|REXO2_ENST00000539275.1_3'UTR	NM_015523.3	NP_056338.2	Q9Y3B8	ORN_HUMAN	RNA exonuclease 2	221					nucleotide metabolic process	mitochondrion|nucleus	3'-5' exonuclease activity|nucleic acid binding			cervix(1)|endometrium(1)|kidney(1)|lung(1)	4		all_cancers(61;5.06e-12)|all_epithelial(67;5.3e-06)|all_hematologic(158;7.68e-05)|Acute lymphoblastic leukemia(157;0.000966)|Melanoma(852;0.00153)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Breast(348;0.0818)|Prostate(24;0.104)		BRCA - Breast invasive adenocarcinoma(274;2.65e-06)|Epithelial(105;6.09e-05)|all cancers(92;0.000494)		AAAAATAGATGAAAAGAAGAG	0.368													42	101					3.61848e-18	4.68703e-18	1	1	0	T	114320644	G	T	114320644	4	4	81	1	0	0	0	0	0	1	0	0	13294	1291	45	5	687	5	REXO2	11	114320644	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	199555	114320644	20685872	9096	12712											
CADM1	23705	broad.mit.edu	37	11	115080356	115080356	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:115080356G>T	ENST00000452722.3	-	8	1036	c.1016C>A	c.(1015-1017)cCt>cAt	p.P339H	CADM1_ENST00000536727.1_Intron|CADM1_ENST00000542447.2_Intron|CADM1_ENST00000331581.6_Missense_Mutation_p.P339H|CADM1_ENST00000537058.1_Missense_Mutation_p.P339H|CADM1_ENST00000537140.1_Intron	NM_014333.3	NP_055148.3	Q9BY67	CADM1_HUMAN	cell adhesion molecule 1					PPTTIPPPTTTTTTTTTTTTTILTIIT -> TTATTEPAVH GLTQLPNSAEELDSEDLS (in Ref. 3; BAC11657).	adherens junction organization|apoptosis|cell differentiation|cell junction assembly|cell recognition|detection of stimulus|heterophilic cell-cell adhesion|homophilic cell adhesion|multicellular organismal development|positive regulation of cytokine secretion|spermatogenesis|susceptibility to natural killer cell mediated cytotoxicity	basolateral plasma membrane|cell-cell junction|integral to membrane	PDZ domain binding|protein C-terminus binding|protein homodimerization activity|receptor binding			cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1)	32	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)		tgttgtggGAGGAGGGATAGT	0.443													7	50					0.00198382	0.00209725	1	1	0	T	115080356	G	T	115080356	3	4	81	1	0	0	0	0	1	0	0	0	2584	1000	35	4	324	4	CADM1	11	115080356	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	759712	115080356	19926160	9097	12713											
CADM1	23705	broad.mit.edu	37	11	115111086	115111086	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:115111086G>A	ENST00000452722.3	-	2	199	c.179C>T	c.(178-180)gCg>gTg	p.A60V	CADM1_ENST00000536727.1_Missense_Mutation_p.A60V|CADM1_ENST00000542447.2_Missense_Mutation_p.A60V|CADM1_ENST00000331581.6_Missense_Mutation_p.A60V|CADM1_ENST00000537058.1_Missense_Mutation_p.A60V|CADM1_ENST00000537140.1_5'UTR	NM_014333.3	NP_055148.3	Q9BY67	CADM1_HUMAN	cell adhesion molecule 1		Ig-like V-type.				adherens junction organization|apoptosis|cell differentiation|cell junction assembly|cell recognition|detection of stimulus|heterophilic cell-cell adhesion|homophilic cell adhesion|multicellular organismal development|positive regulation of cytokine secretion|spermatogenesis|susceptibility to natural killer cell mediated cytotoxicity	basolateral plasma membrane|cell-cell junction|integral to membrane	PDZ domain binding|protein C-terminus binding|protein homodimerization activity|receptor binding			cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1)	32	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)		ACTGATGGTCGCAACCTCTCC	0.433													19	25					0	0	1	0	0	A	115111086	G	A	115111086	3	1	81	1	0	0	0	0	1	0	0	0	2584	1087	38	1	1185	1	CADM1	11	115111086	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	30730	115111086	19895430	9098	12714											
CADM1	23705	broad.mit.edu	37	11	115111118	115111118	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:115111118C>T	ENST00000452722.3	-	2	167	c.147G>A	c.(145-147)acG>acA	p.T49T	CADM1_ENST00000536727.1_Silent_p.T49T|CADM1_ENST00000542447.2_Silent_p.T49T|CADM1_ENST00000331581.6_Silent_p.T49T|CADM1_ENST00000537058.1_Silent_p.T49T|CADM1_ENST00000537140.1_5'UTR	NM_014333.3	NP_055148.3	Q9BY67	CADM1_HUMAN	cell adhesion molecule 1		Ig-like V-type.				adherens junction organization|apoptosis|cell differentiation|cell junction assembly|cell recognition|detection of stimulus|heterophilic cell-cell adhesion|homophilic cell adhesion|multicellular organismal development|positive regulation of cytokine secretion|spermatogenesis|susceptibility to natural killer cell mediated cytotoxicity	basolateral plasma membrane|cell-cell junction|integral to membrane	PDZ domain binding|protein C-terminus binding|protein homodimerization activity|receptor binding			cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1)	32	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)		TCACGTCTTTCGTAAACAGAT	0.428													17	23					0	0	1	0	0	T	115111118	C	T	115111118	2	4	81	1	0	0	0	0	0	0	0	1	2584	871	31	1		1	CADM1	11	115111118	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	32	115111118	19895398	9099	12715											
BUD13	84811	broad.mit.edu	37	11	116628595	116628595	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:116628595C>T	ENST00000260210.4	-	8	1594	c.1571G>A	c.(1570-1572)cGc>cAc	p.R524H	BUD13_ENST00000375445.3_Missense_Mutation_p.R390H	NM_032725.3	NP_116114.1	Q9BRD0	BUD13_HUMAN	BUD13 homolog (S. cerevisiae)	524										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|pancreas(2)|skin(1)|urinary_tract(1)	22	all_hematologic(175;0.0487)	all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.81e-06)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.154)		ATCAATATAGCGGGCCAGAGG	0.488													13	131					0	0	1	0	0	T	116628595	C	T	116628595	3	4	81	1	0	0	0	0	1	0	0	0	1576	768	27	1	300	1	BUD13	11	116628595	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1517477	116628595	18377921	9100	12716											
ZNF259	8882	broad.mit.edu	37	11	116652883	116652883	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:116652883C>T	ENST00000227322.3	-	12	1229	c.1170G>A	c.(1168-1170)aaG>aaA	p.K390K		NM_003904.3	NP_003895.1	O75312	ZPR1_HUMAN	zinc finger protein 259	390					cell proliferation|signal transduction	cytoplasm|nucleolus				breast(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	9	all_hematologic(175;0.0487)	all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.61e-06)|all cancers(92;0.000139)|OV - Ovarian serous cystadenocarcinoma(223;0.153)		CCTGGTCCATCTTCTGGCTAA	0.483													22	23					0	0	1	0	0	T	116652883	C	T	116652883	2	4	81	1	0	0	0	0	0	0	0	1	17859	912	32	2		2	ZNF259	11	116652883	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	24288	116652883	18353633	9101	12717											
APOA4	337	broad.mit.edu	37	11	116693862	116693862	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:116693862C>T	ENST00000357780.3	-	1	160	c.46G>A	c.(46-48)Gcc>Acc	p.A16T		NM_000482.3	NP_000473.2			apolipoprotein A-IV											cervix(1)|endometrium(2)|lung(10)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	20	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148)		TACTCACCGGCGACAGCCACC	0.587													55	92					0	0	1	0	0	T	116693862	C	T	116693862	3	4	81	1	0	0	0	0	1	0	0	0	780	768	27	1	1156	1	APOA4	11	116693862	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	40979	116693862	18312654	9102	12718											
SIK3	23387	broad.mit.edu	37	11	116733035	116733035	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:116733035C>G	ENST00000375300.1	-	16	1973	c.1968G>C	c.(1966-1968)gaG>gaC	p.E656D	SIK3_ENST00000542607.1_Missense_Mutation_p.E598D|SIK3_ENST00000434315.2_Missense_Mutation_p.E497D|SIK3_ENST00000292055.4_Missense_Mutation_p.E598D|SIK3_ENST00000446921.2_Missense_Mutation_p.E656D|SIK3_ENST00000488337.1_5'UTR|SIK3_ENST00000375288.1_Missense_Mutation_p.S30T			Q9Y2K2	SIK3_HUMAN	SIK family kinase 3	598	Gln-rich.					cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						TCTGCAGCTGCTCACACTCCT	0.507													53	78					0	0	1	0	0	G	116733035	C	G	116733035	3	3	81	1	0	0	0	0	1	0	0	0	14374	796	28	4	2029	4	SIK3	11	116733035	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	39173	116733035	18273481	9103	12719											
SIK3	23387	broad.mit.edu	37	11	116734430	116734430	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:116734430T>C	ENST00000375300.1	-	15	1918	c.1913A>G	c.(1912-1914)cAc>cGc	p.H638R	SIK3_ENST00000542607.1_Missense_Mutation_p.H580R|SIK3_ENST00000434315.2_Missense_Mutation_p.H479R|SIK3_ENST00000292055.4_Missense_Mutation_p.H580R|SIK3_ENST00000446921.2_Missense_Mutation_p.H638R|SIK3_ENST00000488337.1_5'UTR|SIK3_ENST00000375288.1_Missense_Mutation_p.T12A			Q9Y2K2	SIK3_HUMAN	SIK family kinase 3	580	Gln-rich.					cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						TTTTTCCAGGTGAGCTTTGAA	0.577													6	183					0	0	1	0	0	C	116734430	T	C	116734430	3	2	81	1	0	0	0	0	1	0	0	0	14374	1696	59	3	2088	3	SIK3	11	116734430	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	1395	116734430	18272086	9104	12720											
SIK3	23387	broad.mit.edu	37	11	116798086	116798086	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:116798086C>A	ENST00000375300.1	-	4	470	c.465G>T	c.(463-465)gtG>gtT	p.V155V	SIK3_ENST00000542607.1_Silent_p.V97V|SIK3_ENST00000434315.2_5'UTR|SIK3_ENST00000292055.4_Silent_p.V97V|SIK3_ENST00000446921.2_Silent_p.V155V|SIK3_ENST00000375288.1_5'UTR			Q9Y2K2	SIK3_HUMAN	SIK family kinase 3	97	Protein kinase.					cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						TACCATGGGCCACCAGGTGGT	0.448													31	77					1.22384e-17	1.58083e-17	1	1	0	A	116798086	C	A	116798086	2	1	81	1	0	0	0	0	0	0	0	1	14374	581	21	5		5	SIK3	11	116798086	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	63656	116798086	18208430	9105	12721											
PCSK7	9159	broad.mit.edu	37	11	117094831	117094831	+	Translation_Start_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:117094831G>A	ENST00000540028.1	-	0	53				PCSK7_ENST00000320934.3_Silent_p.Y339Y			Q16549	PCSK7_HUMAN	proprotein convertase subtilisin/kexin type 7						peptide hormone processing	integral to Golgi membrane	serine-type endopeptidase activity			NS(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	16	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|Epithelial(105;6.71e-05)|all cancers(92;0.000537)		CGTAGCCATCGTAGTTGCAGT	0.542			T	IGH@	MLCLS								4	51					0	0	1	0	0	A	117094831	G	A	117094831	1	1	81	1	0	0	0	0	0	0	0	0	11652	1140	40	1		1	PCSK7	11	117094831	Translation_Start_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	296745	117094831	17911685	9106	12722											
PCSK7	9159	broad.mit.edu	37	11	117096678	117096678	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:117096678G>A	ENST00000320934.3	-	6	1459	c.829C>T	c.(829-831)Cac>Tac	p.H277Y		NM_004716.2	NP_004707.2	Q16549	PCSK7_HUMAN	proprotein convertase subtilisin/kexin type 7	277	Catalytic.				peptide hormone processing	integral to Golgi membrane	serine-type endopeptidase activity			NS(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	16	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|Epithelial(105;6.71e-05)|all cancers(92;0.000537)		ATCTGATAGTGCTTGTTGAAC	0.542			T	IGH@	MLCLS						OREG0021371	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	17	30					0	0	1	0	0	A	117096678	G	A	117096678	3	1	81	1	0	0	0	0	1	0	0	0	11652	1319	46	2	1576	2	PCSK7	11	117096678	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1847	117096678	17909838	9107	12723											
PCSK7	9159	broad.mit.edu	37	11	117100139	117100139	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:117100139C>T	ENST00000320934.3	-	3	1052	c.422G>A	c.(421-423)cGc>cAc	p.R141H		NM_004716.2	NP_004707.2	Q16549	PCSK7_HUMAN	proprotein convertase subtilisin/kexin type 7	141		Cleavage; by autolysis (By similarity).			peptide hormone processing	integral to Golgi membrane	serine-type endopeptidase activity			NS(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	16	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|Epithelial(105;6.71e-05)|all cancers(92;0.000537)		GTGGACGCTGCGCTTGGCCCG	0.617			T	IGH@	MLCLS								18	127					0	0	1	0	0	T	117100139	C	T	117100139	3	4	81	1	0	0	0	0	1	0	0	0	11652	768	27	1	1995	1	PCSK7	11	117100139	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3461	117100139	17906377	9108	12724											
RNF214	257160	broad.mit.edu	37	11	117109762	117109762	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:117109762C>T	ENST00000531452.1	+	3	599	c.553C>T	c.(553-555)Cga>Tga	p.R185*	RNF214_ENST00000300650.4_Nonsense_Mutation_p.R185*|RNF214_ENST00000530849.1_Intron|RNF214_ENST00000531287.1_Intron	NM_001077239.1|NM_001278249.1	NP_001070707.1|NP_001265178.1	Q8ND24	RN214_HUMAN	ring finger protein 214	185							zinc ion binding			cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	23	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.88e-05)|Epithelial(105;0.000397)|all cancers(92;0.00258)		TGAAGGAGTCCGAGTGGATCA	0.443													39	46					0	0	1	0	0	T	117109762	C	T	117109762	4	4	81	1	0	0	0	0	0	1	0	0	13530	644	23	1	559	1	RNF214	11	117109762	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	9623	117109762	17896754	9109	12725											
CEP164	22897	broad.mit.edu	37	11	117261583	117261583	+	Silent	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:117261583T>G	ENST00000278935.3	+	16	2172	c.2025T>G	c.(2023-2025)gcT>gcG	p.A675A	CEP164_ENST00000533706.1_3'UTR	NM_001271933.1|NM_014956.4	NP_001258862.1|NP_055771.4	Q9UPV0	CE164_HUMAN	centrosomal protein 164kDa	675	Glu-rich.				cell division|DNA repair|G2/M transition of mitotic cell cycle|mitosis	centriole|cytosol|nucleus				breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3)	47	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)		GGCTCCGAGCTCAGGTCCAGT	0.597													19	42					0	0	1	0	0	G	117261583	T	G	117261583	2	3	81	1	0	0	0	0	0	0	0	1	3271	1538	54	5		5	CEP164	11	117261583	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	151821	117261583	17744933	9110	12726											
CEP164	22897	broad.mit.edu	37	11	117280645	117280645	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:117280645G>A	ENST00000278935.3	+	30	4207	c.4060G>A	c.(4060-4062)Gac>Aac	p.D1354N	CEP164_ENST00000533706.1_3'UTR	NM_001271933.1|NM_014956.4	NP_001258862.1|NP_055771.4	Q9UPV0	CE164_HUMAN	centrosomal protein 164kDa	1354					cell division|DNA repair|G2/M transition of mitotic cell cycle|mitosis	centriole|cytosol|nucleus				breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3)	47	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)		AACGGTGGACGACTTCCTGTT	0.587													37	71					0	0	1	0	0	A	117280645	G	A	117280645	3	1	81	1	0	0	0	0	1	0	0	0	3271	1058	37	1	4170	1	CEP164	11	117280645	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	19062	117280645	17725871	9111	12727											
DSCAML1	57453	broad.mit.edu	37	11	117308769	117308769	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:117308769C>A	ENST00000321322.6	-	25	4455	c.4454G>T	c.(4453-4455)aGc>aTc	p.S1485I	DSCAML1_ENST00000527706.1_Missense_Mutation_p.S1215I	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1425	Fibronectin type-III 6.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		CCACTCCTCGCTGTTGTCCAC	0.607													9	19					0.0135373	0.014045	1	1	0	A	117308769	C	A	117308769	3	1	81	1	0	0	0	0	1	0	0	0	4795	797	28	4	1923	4	DSCAML1	11	117308769	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	28124	117308769	17697747	9112	12728											
DSCAML1	57453	broad.mit.edu	37	11	117329587	117329587	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:117329587G>A	ENST00000321322.6	-	19	3632	c.3631C>T	c.(3631-3633)Cgg>Tgg	p.R1211W	DSCAML1_ENST00000527706.1_Missense_Mutation_p.R941W	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1151	Fibronectin type-III 4.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		AGCTCCACCCGCTCCCGCGTG	0.637													19	44					0	0	1	0	0	A	117329587	G	A	117329587	3	1	81	1	0	0	0	0	1	0	0	0	4795	1086	38	1	2770	1	DSCAML1	11	117329587	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	20818	117329587	17676929	9113	12729											
DSCAML1	57453	broad.mit.edu	37	11	117667814	117667814	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:117667814C>T	ENST00000321322.6	-	1	162	c.161G>A	c.(160-162)aGa>aAa	p.R54K		NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	0	Ig-like C2-type 1.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		AGGCCCTATTCTCCGGGGAGG	0.692													8	6					0	0	1	0	0	T	117667814	C	T	117667814	3	4	81	1	0	0	0	0	1	0	0	0	4795	913	32	2	6312	2	DSCAML1	11	117667814	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	338227	117667814	17338702	9114	12730											
TMPRSS13	84000	broad.mit.edu	37	11	117776418	117776418	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:117776418C>T	ENST00000528626.1	-	9	1284	c.1211G>A	c.(1210-1212)gGa>gAa	p.G404E	TMPRSS13_ENST00000524993.1_Missense_Mutation_p.G439E|TMPRSS13_ENST00000430170.2_Missense_Mutation_p.G439E|TMPRSS13_ENST00000445164.2_Missense_Mutation_p.G439E	NM_001206789.1	NP_001193718.1	Q9BYE2	TMPSD_HUMAN	transmembrane protease, serine 13	434	Peptidase S1.				proteolysis	integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|pancreas(1)|prostate(1)|urinary_tract(1)	20	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.00106)		AAAGGTCTGTCCATGCATGGG	0.522													4	9					0	0	1	0	0	T	117776418	C	T	117776418	3	4	81	1	0	0	0	0	1	0	0	0	16305	855	30	2	403	2	TMPRSS13	11	117776418	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	108604	117776418	17230098	9115	12731											
SCN2B	6327	broad.mit.edu	37	11	118037666	118037666	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:118037666T>C	ENST00000278947.5	-	4	825	c.584A>G	c.(583-585)gAc>gGc	p.D195G		NM_004588.4	NP_004579.1	O60939	SCN2B_HUMAN	sodium channel, voltage-gated, type II, beta subunit	195					synaptic transmission	voltage-gated sodium channel complex	voltage-gated sodium channel activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)	7	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.19e-05)|Epithelial(105;0.00117)		GGTCTTCAGGTCATCTGTGCT	0.612													10	97					0	0	1	0	0	C	118037666	T	C	118037666	3	2	81	1	0	0	0	0	1	0	0	0	13971	1667	58	3	67	3	SCN2B	11	118037666	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	261248	118037666	16968850	9116	12732											
MPZL3	196264	broad.mit.edu	37	11	118111057	118111057	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:118111057C>A	ENST00000278949.4	-	2	164	c.109G>T	c.(109-111)Gat>Tat	p.D37Y	MPZL3_ENST00000527472.1_Splice_Site|MPZL3_ENST00000525386.1_Intron			Q6UWV2	MPZL3_HUMAN	myelin protein zero-like 3	37	Ig-like V-type.				cell adhesion	integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(1)|lung(2)|stomach(2)|upper_aerodigestive_tract(1)	8	all_hematologic(175;0.046)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		ACATGGGCATCTGCACGAATC	0.388													36	49					2.38352e-08	2.83414e-08	1	1	0	A	118111057	C	A	118111057	3	1	81	1	0	0	0	0	1	0	0	0	9800	913	32	4	618	4	MPZL3	11	118111057	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	73391	118111057	16895459	9117	12733											
CD3D	915	broad.mit.edu	37	11	118211282	118211282	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:118211282C>T	ENST00000300692.4	-	2	218	c.82G>A	c.(82-84)Gaa>Aaa	p.E28K	CD3D_ENST00000529594.1_Intron|CD3D_ENST00000392884.2_Missense_Mutation_p.E28K	NM_000732.4	NP_000723.1	P04234	CD3D_HUMAN	CD3d molecule, delta (CD3-TCR complex)	28					positive thymic T cell selection|T cell costimulation|T cell receptor signaling pathway	cytoplasm|integral to membrane	protein heterodimerization activity			large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	9	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.04e-05)		TCCTCAAGTTCCTCTATAGGT	0.478													11	23					0	0	1	0	0	T	118211282	C	T	118211282	3	4	81	1	0	0	0	0	1	0	0	0	3032	864	30	2	449	2	CD3D	11	118211282	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	100225	118211282	16795234	9118	12734											
ARCN1	372	broad.mit.edu	37	11	118471374	118471374	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:118471374C>T	ENST00000359415.4	+	11	1769	c.1604C>T	c.(1603-1605)cCc>cTc	p.P535L	ARCN1_ENST00000392859.3_Missense_Mutation_p.P406L|ARCN1_ENST00000534182.2_Intron|ARCN1_ENST00000264028.4_Missense_Mutation_p.P494L			P48444	COPD_HUMAN	archain 1	494					COPI coating of Golgi vesicle|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	clathrin adaptor complex|COPI vesicle coat|cytosol				endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|urinary_tract(1)	13	all_hematologic(175;0.0349)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		GGAAACAGCCCCGTCAGGTTT	0.393													18	260					0	0	1	0	0	T	118471374	C	T	118471374	3	4	81	1	0	0	0	0	1	0	0	0	839	623	22	2	1519	2	ARCN1	11	118471374	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	260092	118471374	16535142	9119	12735											
PHLDB1	23187	broad.mit.edu	37	11	118514793	118514793	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:118514793G>A	ENST00000361417.2	+	16	3433	c.3022G>A	c.(3022-3024)Gct>Act	p.A1008T	PHLDB1_ENST00000524713.1_Missense_Mutation_p.A151T|PHLDB1_ENST00000534672.1_3'UTR|PHLDB1_ENST00000527898.1_Missense_Mutation_p.A44T|PHLDB1_ENST00000356063.5_Missense_Mutation_p.A961T	NM_015157.3	NP_055972.1	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B, member 1	1008										breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		TCTGCAGAGCGCTCTACTCAC	0.612													12	15					0	0	1	0	0	A	118514793	G	A	118514793	3	1	81	1	0	0	0	0	1	0	0	0	11899	1087	38	1	3076	1	PHLDB1	11	118514793	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	43419	118514793	16491723	9120	12736											
PHLDB1	23187	broad.mit.edu	37	11	118526364	118526364	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:118526364G>T	ENST00000361417.2	+	22	4335	c.3924G>T	c.(3922-3924)gaG>gaT	p.E1308D	PHLDB1_ENST00000524713.1_Missense_Mutation_p.E451D|PHLDB1_ENST00000534672.1_3'UTR|PHLDB1_ENST00000527898.1_Missense_Mutation_p.E359D|PHLDB1_ENST00000356063.5_Missense_Mutation_p.E1261D	NM_015157.3	NP_055972.1	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B, member 1	1308	PH.									breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		AGGCCATTGAGGAAGTGTACT	0.592													8	65					1.12685e-05	1.27052e-05	1	1	0	T	118526364	G	T	118526364	3	4	81	1	0	0	0	0	1	0	0	0	11899	991	35	4	4002	4	PHLDB1	11	118526364	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	11571	118526364	16480152	9121	12737											
TREH	11181	broad.mit.edu	37	11	118529667	118529667	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:118529667A>G	ENST00000529101.1	-	13	1537	c.1492T>C	c.(1492-1494)Tgg>Cgg	p.W498R	TREH_ENST00000397925.1_Missense_Mutation_p.W467R|TREH_ENST00000525958.1_Missense_Mutation_p.W467R|TREH_ENST00000530256.1_Missense_Mutation_p.W375R|TREH_ENST00000264029.4_Missense_Mutation_p.W498R			O43280	TREA_HUMAN	trehalase (brush-border membrane glycoprotein)	498					polysaccharide digestion|trehalose catabolic process	anchored to plasma membrane	alpha,alpha-trehalase activity			NS(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|urinary_tract(1)	13	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.16e-05)		GTTCGGATCCAATTCTGAGCC	0.592											OREG0021385	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	67	102					0	0	1	0	0	G	118529667	A	G	118529667	3	3	81	1	0	0	0	0	1	0	0	0	16530	130	5	3	270	3	TREH	11	118529667	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	3303	118529667	16476849	9122	12738											
DDX6	1656	broad.mit.edu	37	11	118630663	118630663	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:118630663C>T	ENST00000264018.4	-	8	1137	c.832G>A	c.(832-834)Gct>Act	p.A278T	DDX6_ENST00000534980.1_Missense_Mutation_p.A278T|DDX6_ENST00000526070.2_Missense_Mutation_p.A278T	NM_004397.4	NP_004388.2	P26196	DDX6_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 6	278	Helicase ATP-binding.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|RNA-induced silencing complex|stress granule	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding|RNA helicase activity			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)	13	all_hematologic(175;0.0839)	Renal(330;0.0183)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)|Hepatocellular(160;0.0893)|Breast(348;0.0979)|all_hematologic(192;0.103)		OV - Ovarian serous cystadenocarcinoma(223;3.39e-06)|BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Colorectal(284;0.0377)		GGGAAAGTAGCGGAATATAGT	0.383			T	IGH@	B-NHL								18	24					0	0	1	0	0	T	118630663	C	T	118630663	3	4	81	1	0	0	0	0	1	0	0	0	4400	768	27	1	643	1	DDX6	11	118630663	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	100996	118630663	16375853	9123	12739											
CXCR5	643	broad.mit.edu	37	11	118764321	118764321	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:118764321G>T	ENST00000292174.4	+	2	244	c.68G>T	c.(67-69)aGa>aTa	p.R23I		NM_001716.4|NM_032966.2	NP_001707.1|NP_116743.1	P32302	CXCR5_HUMAN	chemokine (C-X-C motif) receptor 5	23					B cell activation|cellular component movement	integral to plasma membrane	C-X-C chemokine receptor activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(5)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.62e-05)		GAACTGGACAGATTGGACAAC	0.567													33	48					2.87052e-16	3.68187e-16	1	1	0	T	118764321	G	T	118764321	3	4	81	1	0	0	0	0	1	0	0	0	4117	942	33	4	74	4	CXCR5	11	118764321	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	133658	118764321	16242195	9124	12740											
BCL9L	283149	broad.mit.edu	37	11	118773031	118773031	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:118773031G>T	ENST00000334801.3	-	6	2385	c.1421C>A	c.(1420-1422)tCa>tAa	p.S474*	BCL9L_ENST00000526143.1_5'UTR	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	474	Necessary for interaction with CTNNB1 (By similarity).|Pro-rich.				negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		transcription coactivator activity			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		CTGTGTCTGTGAAATCATGGA	0.652													12	100					2.80697e-09	3.37799e-09	1	1	0	T	118773031	G	T	118773031	4	4	81	1	0	0	0	0	0	1	0	0	1380	1294	45	5	3090	5	BCL9L	11	118773031	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	8710	118773031	16233485	9125	12741											
TRAPPC4	51399	broad.mit.edu	37	11	118889524	118889524	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:118889524T>C	ENST00000533632.1	+	1	383	c.19T>C	c.(19-21)Tat>Cat	p.Y7H	TRAPPC4_ENST00000528230.1_Missense_Mutation_p.Y7H|TRAPPC4_ENST00000525303.1_Missense_Mutation_p.Y7H|TRAPPC4_ENST00000359005.4_Missense_Mutation_p.Y7H|TRAPPC4_ENST00000533058.1_Missense_Mutation_p.Y7H|TRAPPC4_ENST00000434101.2_Missense_Mutation_p.Y7H	NM_016146.4	NP_057230.1	Q9Y296	TPPC4_HUMAN	trafficking protein particle complex 4	7					dendrite development|ER to Golgi vesicle-mediated transport	cis-Golgi network|dendrite|endoplasmic reticulum|Golgi stack|synaptic vesicle	protein binding			NS(1)|endometrium(1)|large_intestine(2)|lung(1)	5	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_neural(223;0.224)|all_hematologic(192;0.243)		BRCA - Breast invasive adenocarcinoma(274;7.58e-05)		TTTTAGTGTGTATGTGGTGAA	0.572													9	148					0	0	1	0	0	C	118889524	T	C	118889524	3	2	81	1	0	0	0	0	1	0	0	0	16522	1638	57	3	21	3	TRAPPC4	11	118889524	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	116493	118889524	16116992	9126	12742											
TRAPPC4	51399	broad.mit.edu	37	11	118889933	118889933	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:118889933C>A	ENST00000533632.1	+	2	620	c.256C>A	c.(256-258)Ctg>Atg	p.L86M	TRAPPC4_ENST00000528230.1_Intron|TRAPPC4_ENST00000525303.1_Intron|TRAPPC4_ENST00000359005.4_Missense_Mutation_p.L86M|TRAPPC4_ENST00000533058.1_Missense_Mutation_p.L86M|TRAPPC4_ENST00000434101.2_Intron	NM_016146.4	NP_057230.1	Q9Y296	TPPC4_HUMAN	trafficking protein particle complex 4	86					dendrite development|ER to Golgi vesicle-mediated transport	cis-Golgi network|dendrite|endoplasmic reticulum|Golgi stack|synaptic vesicle	protein binding			NS(1)|endometrium(1)|large_intestine(2)|lung(1)	5	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_neural(223;0.224)|all_hematologic(192;0.243)		BRCA - Breast invasive adenocarcinoma(274;7.58e-05)		GCTGGAGTATCTGGGTAACCC	0.552													21	29					8.10497e-08	9.55076e-08	1	1	0	A	118889933	C	A	118889933	3	1	81	1	0	0	0	0	1	0	0	0	16522	912	32	4	262	4	TRAPPC4	11	118889933	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	409	118889933	16116583	9127	12743											
SLC37A4	2542	broad.mit.edu	37	11	118898339	118898339	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:118898339C>A	ENST00000545985.1	-	6	1380	c.624G>T	c.(622-624)aaG>aaT	p.K208N	SLC37A4_ENST00000357590.5_Splice_Site_p.K208N|SLC37A4_ENST00000538950.1_Splice_Site_p.K135N|SLC37A4_ENST00000525102.1_5'UTR|SLC37A4_ENST00000330775.7_Splice_Site_p.K207N	NM_001164277.1|NM_001467.5	NP_001157749.1|NP_001458.1	O43826	G6PT1_HUMAN	solute carrier family 37 (glucose-6-phosphate transporter), member 4	208					glucose homeostasis|glucose metabolic process	endoplasmic reticulum membrane|integral to endoplasmic reticulum membrane|integral to membrane	glucose-6-phosphate transmembrane transporter activity			endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|prostate(1)	6	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_neural(223;0.112)|all_hematologic(192;0.207)		BRCA - Breast invasive adenocarcinoma(274;7.58e-05)		GGGGCTCACCCTTCTTGCCCT	0.577													14	24					2.23348e-06	2.55658e-06	1	1	0	A	118898339	C	A	118898339	5	1	81	1	0	0	0	0	0	0	1	0	14655	695	24	4	759	4	SLC37A4	11	118898339	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	8406	118898339	16108177	9128	12744											
VPS11	55823	broad.mit.edu	37	11	118939909	118939909	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:118939909A>G	ENST00000300793.6	+	2	232	c.190A>G	c.(190-192)Atg>Gtg	p.M64V	VPS11_ENST00000527798.1_3'UTR	NM_021729.4	NP_068375.3	Q9H270	VPS11_HUMAN	vacuolar protein sorting 11 homolog (S. cerevisiae)	64					protein transport	endocytic vesicle|HOPS complex|late endosome membrane|lysosomal membrane	nucleotide binding|protein binding|zinc ion binding			autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	29	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.88e-05)		CCCTGCACATATGGAAGGCCA	0.438													10	146					0	0	1	0	0	G	118939909	A	G	118939909	3	3	81	1	0	0	0	0	1	0	0	0	17248	449	16	3	196	3	VPS11	11	118939909	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	41570	118939909	16066607	9129	12745											
VPS11	55823	broad.mit.edu	37	11	118944660	118944660	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:118944660C>T	ENST00000300793.6	+	8	1276	c.1234C>T	c.(1234-1236)Cga>Tga	p.R412*	VPS11_ENST00000527798.1_3'UTR	NM_021729.4	NP_068375.3	Q9H270	VPS11_HUMAN	vacuolar protein sorting 11 homolog (S. cerevisiae)	413					protein transport	endocytic vesicle|HOPS complex|late endosome membrane|lysosomal membrane	nucleotide binding|protein binding|zinc ion binding			autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	29	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.88e-05)		GCAATATATCCGGTCAGTCTG	0.527													9	11					0	0	1	0	0	T	118944660	C	T	118944660	5	4	81	1	0	0	0	0	0	0	1	0	17248	666	23	1	1262	1	VPS11	11	118944660	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	4751	118944660	16061856	9130	12746											
VPS11	55823	broad.mit.edu	37	11	118948752	118948752	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:118948752C>T	ENST00000300793.6	+	11	1776	c.1734C>T	c.(1732-1734)agC>agT	p.S578S	VPS11_ENST00000527798.1_3'UTR	NM_021729.4	NP_068375.3	Q9H270	VPS11_HUMAN	vacuolar protein sorting 11 homolog (S. cerevisiae)	579					protein transport	endocytic vesicle|HOPS complex|late endosome membrane|lysosomal membrane	nucleotide binding|protein binding|zinc ion binding			autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	29	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.88e-05)		AAGGCCGCAGCGATAGGGAGG	0.562													41	51					0	0	1	0	0	T	118948752	C	T	118948752	2	4	81	1	0	0	0	0	0	0	0	1	17248	767	27	1		1	VPS11	11	118948752	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	4092	118948752	16057764	9131	12747											
DPAGT1	1798	broad.mit.edu	37	11	118971440	118971440	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:118971440G>T	ENST00000409993.2	-	5	1947	c.396C>A	c.(394-396)gcC>gcA	p.A132A	DPAGT1_ENST00000445653.1_5'UTR|DPAGT1_ENST00000432443.2_Silent_p.A25A|DPAGT1_ENST00000354202.4_Silent_p.A132A			Q9H3H5	GPT_HUMAN	dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase)	132					dolichol biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|protein oligomerization	integral to endoplasmic reticulum membrane|microsome	phospho-N-acetylmuramoyl-pentapeptide-transferase activity|transferase activity, transferring glycosyl groups|UDP-N-acetylglucosamine-dolichyl-phosphate N-acetylglucosaminephosphotransferase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	17	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.55e-05)		GAGGTAGTGAGGCAGCTGTAG	0.552											OREG0021396	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	30					5.4927e-09	6.5834e-09	1	1	0	T	118971440	G	T	118971440	2	4	81	1	0	0	0	0	0	0	0	1	4737	987	35	4		4	DPAGT1	11	118971440	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	22688	118971440	16035076	9132	12748											
HINFP	25988	broad.mit.edu	37	11	119002275	119002275	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:119002275C>T	ENST00000350777.2	+	4	505	c.442C>T	c.(442-444)Cgg>Tgg	p.R148W	HINFP_ENST00000527410.1_Missense_Mutation_p.R148W|HINFP_ENST00000527354.1_3'UTR	NM_001243259.1|NM_015517.4|NM_198971.2	NP_001230188.1|NP_056332.2|NP_945322.1	Q9BQA5	HINFP_HUMAN	histone H4 transcription factor	148					DNA damage checkpoint|DNA repair|establishment of protein localization|in utero embryonic development|myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	enzyme binding|histone binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						GTGGTTTTATCGGCATGTGGA	0.547													33	62					0	0	1	0	0	T	119002275	C	T	119002275	3	4	81	1	0	0	0	0	1	0	0	0	7151	875	31	1	452	1	HINFP	11	119002275	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	30835	119002275	16004241	9133	12749											
NLRX1	79671	broad.mit.edu	37	11	119051903	119051903	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:119051903C>A	ENST00000409109.1	+	8	2878	c.2291C>A	c.(2290-2292)cCt>cAt	p.P764H	NLRX1_ENST00000409265.4_Missense_Mutation_p.P764H|NLRX1_ENST00000525863.1_Missense_Mutation_p.P764H|NLRX1_ENST00000409991.1_Missense_Mutation_p.P764H|NLRX1_ENST00000292199.2_Missense_Mutation_p.P764H	NM_001282144.1	NP_001269073.1	Q86UT6	NLRX1_HUMAN	NLR family member X1	764	Required for the repression of MAVS- induced interferon signaling.				innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production	mitochondrial outer membrane	ATP binding			cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	22	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		AGCCTGGGCCCTGAGGCCTGC	0.607													5	55					0.00116845	0.00124301	1	1	0	A	119051903	C	A	119051903	3	1	81	1	0	0	0	0	1	0	0	0	10532	681	24	4	2317	4	NLRX1	11	119051903	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	49628	119051903	15954613	9134	12750											
NLRX1	79671	broad.mit.edu	37	11	119053929	119053929	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:119053929G>A	ENST00000409109.1	+	10	3296	c.2709G>A	c.(2707-2709)ggG>ggA	p.G903G	NLRX1_ENST00000409265.4_Intron|NLRX1_ENST00000525863.1_Intron|NLRX1_ENST00000409991.1_Silent_p.G903G|NLRX1_ENST00000292199.2_Silent_p.G903G	NM_001282144.1	NP_001269073.1	Q86UT6	NLRX1_HUMAN	NLR family member X1	903	Required for the repression of MAVS- induced interferon signaling.				innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production	mitochondrial outer membrane	ATP binding			cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	22	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		TGACAGAGGGGACGGCGGTGT	0.602													14	39					0	0	1	0	0	A	119053929	G	A	119053929	2	1	81	1	0	0	0	0	0	0	0	1	10532	1161	41	2		2	NLRX1	11	119053929	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2026	119053929	15952587	9135	12751											
PDZD3	79849	broad.mit.edu	37	11	119057160	119057160	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:119057160C>T	ENST00000531114.1	+	2	838	c.289C>T	c.(289-291)Ctt>Ttt	p.L97F	PDZD3_ENST00000355547.5_Intron|PDZD3_ENST00000392817.2_Missense_Mutation_p.L97F|PDZD3_ENST00000322712.4_Intron|PDZD3_ENST00000525131.1_Intron			Q86UT5	NHRF4_HUMAN	PDZ domain containing 3	97					cGMP-mediated signaling|ion transport|negative regulation of cGMP biosynthetic process|response to toxin|water transport	apical part of cell|brush border|cytosol|membrane fraction|subapical complex	guanylate cyclase inhibitor activity|ion channel inhibitor activity|protein C-terminus binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)	14	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;7.52e-05)		TCTCCTCCCCCTTTTCTGCTG	0.602													16	30					0	0	1	0	0	T	119057160	C	T	119057160	3	4	81	1	0	0	0	0	1	0	0	0	11749	696	24	2		2	PDZD3	11	119057160	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3231	119057160	15949356	9136	12752											
MCAM	4162	broad.mit.edu	37	11	119182354	119182355	+	Frame_Shift_Ins	INS	-	-	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:119182354_119182355insG	ENST00000392814.1	-	6	1868_1869	c.1139_1140insC	c.(1138-1140)cctfs	p.P380fs	MCAM_ENST00000264036.4_Frame_Shift_Ins_p.P431fs			P43121	MUC18_HUMAN	melanoma cell adhesion molecule	431	Ig-like C2-type 2.				anatomical structure morphogenesis|cell adhesion	integral to membrane|plasma membrane				breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|skin(1)	22		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.78e-05)		ATGCCATCCAAGGGGGGCCTTG	0.609													46	54	---	---	---	---						G	119182355	-	G	119182354	7	5	81	1	0	1	1	0	0	0	0	0	9418	59	3	0	671	0	MCAM	11	119182354	Frame_Shift_Ins	INS	-	TCGA-DU-6392-01A-11D-1705-08	125194	119182354	15824162	9137	12753											
MFRP	83552	broad.mit.edu	37	11	119217195	119217195	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:119217195C>T	ENST00000555262.1	-	1	188	c.29G>A	c.(28-30)tGc>tAc	p.C10Y	MFRP_ENST00000449574.2_Missense_Mutation_p.C10Y|MFRP_ENST00000360167.4_Missense_Mutation_p.C10Y|MFRP_ENST00000530681.1_Missense_Mutation_p.C10Y|C1QTNF5_ENST00000445041.2_5'UTR|MFRP_ENST00000529147.1_5'UTR	NM_001278431.1	NP_001265360.1			membrane frizzled-related protein											autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|urinary_tract(1)	18		Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.84e-05)		TGCCTCCATGCAGAGGATGAC	0.562													21	47					0	0	1	0	0	T	119217195	C	T	119217195	3	4	81	1	0	0	0	0	1	0	0	0	9576	710	25	2	1762	2	MFRP	11	119217195	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	34841	119217195	15789321	9138	12754											
USP2	9099	broad.mit.edu	37	11	119229791	119229791	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:119229791T>C	ENST00000260187.2	-	6	1409	c.1115A>G	c.(1114-1116)gAg>gGg	p.E372G	USP2_ENST00000455332.2_Missense_Mutation_p.E129G|USP2_ENST00000525735.1_Missense_Mutation_p.E163G	NM_004205.4	NP_004196.4	O75604	UBP2_HUMAN	ubiquitin specific peptidase 2	372					cell cycle|muscle organ development|negative regulation of transcription from RNA polymerase II promoter|positive regulation of mitotic cell cycle|protein deubiquitination|protein stabilization|ubiquitin-dependent protein catabolic process	nucleus|perinuclear region of cytoplasm	cyclin binding|cysteine-type endopeptidase activity|metal ion binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	24		all_hematologic(192;4.65e-05)|Breast(348;0.0101)|all_neural(223;0.0218)|Medulloblastoma(222;0.0425)|Renal(330;0.157)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.000513)|Colorectal(284;0.0116)|Lung(307;0.0853)|LUSC - Lung squamous cell carcinoma(976;0.0889)		TCGGTTCACCTCGTTATGGAG	0.493													10	67					0	0	1	0	0	C	119229791	T	C	119229791	3	2	81	1	0	0	0	0	1	0	0	0	17111	1551	54	3	734	3	USP2	11	119229791	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	12596	119229791	15776725	9139	12755											
PVRL1	5818	broad.mit.edu	37	11	119510623	119510623	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:119510623A>T	ENST00000341398.2	-	6	1102	c.1103T>A	c.(1102-1104)tTc>tAc	p.F368Y	RP11-196E1.3_ENST00000532153.1_RNA	NM_203285.1	NP_976030.1	Q15223	PVRL1_HUMAN	poliovirus receptor-related 1 (herpesvirus entry mediator C)	24					adherens junction organization|cell junction assembly|entry of virus into host cell|heterophilic cell-cell adhesion|homophilic cell adhesion|immune response	cell-cell adherens junction|extracellular region|integral to membrane	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.29e-05)		GTTGTACAGGAAGAAGACAGT	0.647													12	27					0	0	1	0	0	T	119510623	A	T	119510623	3	4	81	1	0	0	0	0	1	0	0	0	12891	246	9	5	285	5	PVRL1	11	119510623	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	280832	119510623	15495893	9140	12756											
TRIM29	23650	broad.mit.edu	37	11	119998186	119998186	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:119998186G>A	ENST00000341846.5	-	3	1413	c.992C>T	c.(991-993)gCg>gTg	p.A331V	TRIM29_ENST00000541857.1_Missense_Mutation_p.A64V|TRIM29_ENST00000529044.1_Missense_Mutation_p.A70V	NM_012101.3	NP_036233.2	Q14134	TRI29_HUMAN	tripartite motif containing 29	331					transcription from RNA polymerase II promoter	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30		Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)		CTGCTCCAGCGCAGCCCTCAC	0.592													73	59					0	0	1	0	0	A	119998186	G	A	119998186	3	1	81	1	0	0	0	0	1	0	0	0	16564	1087	38	1	802	1	TRIM29	11	119998186	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	487563	119998186	15008330	9141	12757											
TRIM29	23650	broad.mit.edu	37	11	119998223	119998223	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:119998223G>A	ENST00000341846.5	-	3	1376	c.955C>T	c.(955-957)Cgg>Tgg	p.R319W	TRIM29_ENST00000541857.1_Missense_Mutation_p.R52W|TRIM29_ENST00000529044.1_Missense_Mutation_p.R58W	NM_012101.3	NP_036233.2	Q14134	TRI29_HUMAN	tripartite motif containing 29	319					transcription from RNA polymerase II promoter	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30		Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)		TCCAGGTCCCGCACCAGGTCC	0.567													6	82					0	0	1	0	0	A	119998223	G	A	119998223	3	1	81	1	0	0	0	0	1	0	0	0	16564	1086	38	1	839	1	TRIM29	11	119998223	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	37	119998223	15008293	9142	12758											
TRIM29	23650	broad.mit.edu	37	11	119999157	119999157	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:119999157T>A	ENST00000341846.5	-	2	1272	c.851A>T	c.(850-852)gAg>gTg	p.E284V	TRIM29_ENST00000541857.1_Missense_Mutation_p.E17V|TRIM29_ENST00000529044.1_Missense_Mutation_p.E23V	NM_012101.3	NP_036233.2	Q14134	TRI29_HUMAN	tripartite motif containing 29	284					transcription from RNA polymerase II promoter	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30		Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)		ATCCTCAATCTCAATGATCTT	0.552													4	46					0	0	1	0	0	A	119999157	T	A	119999157	3	1	81	1	0	0	0	0	1	0	0	0	16564	1551	54	5	947	5	TRIM29	11	119999157	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	934	119999157	15007359	9143	12759											
OAF	220323	broad.mit.edu	37	11	120099605	120099605	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:120099605G>A	ENST00000328965.4	+	4	1089	c.576G>A	c.(574-576)ctG>ctA	p.L192L	OAF_ENST00000531220.1_Silent_p.L76L	NM_178507.2	NP_848602.1	Q86UD1	OAF_HUMAN	OAF homolog (Drosophila)	192										kidney(1)|lung(5)	6		Breast(109;0.00663)|Medulloblastoma(222;0.0523)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)		TCGAGGCTCTGCCCAAGGCCT	0.677													11	20					0	0	1	0	0	A	120099605	G	A	120099605	2	1	81	1	0	0	0	0	0	0	0	1	10846	1306	46	2		2	OAF	11	120099605	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	100448	120099605	14906911	9144	12760											
POU2F3	25833	broad.mit.edu	37	11	120175896	120175896	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:120175896G>T	ENST00000260264.4	+	7	642	c.608G>T	c.(607-609)aGg>aTg	p.R203M	POU2F3_ENST00000543440.2_Missense_Mutation_p.R201M	NM_001244682.1	NP_001231611.1	Q9UKI9	PO2F3_HUMAN	POU class 2 homeobox 3	201	POU-specific.				negative regulation by host of viral transcription	cytoplasm	sequence-specific DNA binding			large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)	17		Breast(109;0.0011)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;6.85e-06)		TTCAAGCAGAGGCGCATTAAG	0.557													7	79					5.18039e-06	5.88187e-06	1	1	0	T	120175896	G	T	120175896	3	4	81	1	0	0	0	0	1	0	0	0	12319	1000	35	4	628	4	POU2F3	11	120175896	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	76291	120175896	14830620	9145	12761	57	2									
POU2F3	25833	broad.mit.edu	37	11	120175899	120175899	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:120175899G>A	ENST00000260264.4	+	7	645	c.611G>A	c.(610-612)cGc>cAc	p.R204H	POU2F3_ENST00000543440.2_Missense_Mutation_p.R202H	NM_001244682.1	NP_001231611.1	Q9UKI9	PO2F3_HUMAN	POU class 2 homeobox 3	202	POU-specific.				negative regulation by host of viral transcription	cytoplasm	sequence-specific DNA binding			large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)	17		Breast(109;0.0011)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;6.85e-06)		AAGCAGAGGCGCATTAAGCTG	0.552													5	76					0	0	1	0	0	A	120175899	G	A	120175899	3	1	81	1	0	0	0	0	1	0	0	0	12319	1087	38	1	631	1	POU2F3	11	120175899	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	3	120175899	14830617	9146	12762	57	2									
ARHGEF12	23365	broad.mit.edu	37	11	120348158	120348158	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:120348158G>A	ENST00000397843.2	+	36	3621	c.3455G>A	c.(3454-3456)gGa>gAa	p.G1152E	ARHGEF12_ENST00000532993.1_Missense_Mutation_p.G1049E|ARHGEF12_ENST00000356641.3_Missense_Mutation_p.G1133E	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	1152					apoptosis|axon guidance|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		CTCTACAGAGGAGATAATGAT	0.353			T	MLL	AML								18	31					0	0	1	0	0	A	120348158	G	A	120348158	3	1	81	1	0	0	0	0	1	0	0	0	894	1174	41	2	3597	2	ARHGEF12	11	120348158	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	172259	120348158	14658358	9147	12763											
GRIK4	2900	broad.mit.edu	37	11	120776016	120776016	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:120776016G>A	ENST00000527524.2	+	13	1577	c.1290G>A	c.(1288-1290)atG>atA	p.M430I	GRIK4_ENST00000438375.2_Missense_Mutation_p.M430I	NM_001282470.1	NP_001269399.1	Q16099	GRIK4_HUMAN	glutamate receptor, ionotropic, kainate 4	430					glutamate signaling pathway|synaptic transmission	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)	L-Glutamic Acid(DB00142)	CATATTTAATGCTGAAGGGGA	0.552													76	119					0	0	1	0	0	A	120776016	G	A	120776016	3	1	81	1	0	0	0	0	1	0	0	0	6817	1319	46	2	1332	2	GRIK4	11	120776016	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	427858	120776016	14230500	9148	12764											
GRIK4	2900	broad.mit.edu	37	11	120776053	120776053	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:120776053C>T	ENST00000527524.2	+	13	1614	c.1327C>T	c.(1327-1329)Cgc>Tgc	p.R443C	GRIK4_ENST00000438375.2_Missense_Mutation_p.R443C	NM_001282470.1	NP_001269399.1	Q16099	GRIK4_HUMAN	glutamate receptor, ionotropic, kainate 4	443					glutamate signaling pathway|synaptic transmission	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)	L-Glutamic Acid(DB00142)	AGGCAATGACCGCTACGAGGG	0.542													82	131					0	0	1	0	0	T	120776053	C	T	120776053	3	4	81	1	0	0	0	0	1	0	0	0	6817	652	23	1	1369	1	GRIK4	11	120776053	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	37	120776053	14230463	9149	12765											
GRIK4	2900	broad.mit.edu	37	11	120776145	120776145	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:120776145C>T	ENST00000527524.2	+	13	1706	c.1419C>T	c.(1417-1419)taC>taT	p.Y473Y	GRIK4_ENST00000438375.2_Silent_p.Y473Y	NM_001282470.1	NP_001269399.1	Q16099	GRIK4_HUMAN	glutamate receptor, ionotropic, kainate 4	473					glutamate signaling pathway|synaptic transmission	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)	L-Glutamic Acid(DB00142)	ATGGCGTGTACGGCGTTCCCG	0.607													40	113					0	0	1	0	0	T	120776145	C	T	120776145	2	4	81	1	0	0	0	0	0	0	0	1	6817	547	19	1		1	GRIK4	11	120776145	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	92	120776145	14230371	9150	12766											
GRIK4	2900	broad.mit.edu	37	11	120831757	120831757	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:120831757G>A	ENST00000527524.2	+	17	2301	c.2014G>A	c.(2014-2016)Gga>Aga	p.G672R	GRIK4_ENST00000438375.2_Missense_Mutation_p.G672R	NM_001282470.1	NP_001269399.1	Q16099	GRIK4_HUMAN	glutamate receptor, ionotropic, kainate 4	672					glutamate signaling pathway|synaptic transmission	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)	L-Glutamic Acid(DB00142)	CACAATTCACGGAGGCTCCAG	0.522													25	33					0	0	1	0	0	A	120831757	G	A	120831757	3	1	81	1	0	0	0	0	1	0	0	0	6817	1117	39	1	2072	1	GRIK4	11	120831757	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	55612	120831757	14174759	9151	12767											
TBCEL	219899	broad.mit.edu	37	11	120930770	120930770	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:120930770T>G	ENST00000422003.2	+	7	1120	c.932T>G	c.(931-933)gTt>gGt	p.V311G	TBCEL_ENST00000529397.1_Missense_Mutation_p.V311G	NM_152715.3	NP_689928.3	Q5QJ74	TBCEL_HUMAN	tubulin folding cofactor E-like	311						cytoplasm|cytoskeleton			TECTA/TBCEL(2)	endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14		Breast(109;0.00526)|Medulloblastoma(222;0.0523)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;5.89e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.121)		TATGTGGATGTTCCACAGGAA	0.398													10	49					0	0	1	0	0	G	120930770	T	G	120930770	3	3	81	1	0	0	0	0	1	0	0	0	15695	1725	60	5	954	5	TBCEL	11	120930770	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	99013	120930770	14075746	9152	12768											
TECTA	7007	broad.mit.edu	37	11	120980054	120980054	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:120980054C>T	ENST00000392793.1	+	4	604	c.333C>T	c.(331-333)atC>atT	p.I111I	TECTA_ENST00000264037.2_Silent_p.I111I			O75443	TECTA_HUMAN	tectorin alpha	111	NIDO.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		GAGGCGAGATCTATTACAGAG	0.507													18	32					0	0	1	0	0	T	120980054	C	T	120980054	2	4	81	1	0	0	0	0	0	0	0	1	15806	903	32	2		2	TECTA	11	120980054	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	49284	120980054	14026462	9153	12769											
TECTA	7007	broad.mit.edu	37	11	120998824	120998824	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:120998824G>A	ENST00000392793.1	+	9	2409	c.2138G>A	c.(2137-2139)tGc>tAc	p.C713Y	TECTA_ENST00000264037.2_Missense_Mutation_p.C713Y			O75443	TECTA_HUMAN	tectorin alpha	713	VWFD 2.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		GAGACCGTGTGCCTGCTCAGC	0.662													27	36					0	0	1	0	0	A	120998824	G	A	120998824	3	1	81	1	0	0	0	0	1	0	0	0	15806	1319	46	2	2168	2	TECTA	11	120998824	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	18770	120998824	14007692	9154	12770											
TECTA	7007	broad.mit.edu	37	11	121032925	121032925	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:121032925G>A	ENST00000392793.1	+	16	5389	c.5118G>A	c.(5116-5118)ggG>ggA	p.G1706G	TECTA_ENST00000264037.2_Silent_p.G1706G			O75443	TECTA_HUMAN	tectorin alpha	1706					cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		CCTGCTATGGGCTTCTCGATC	0.587													18	37					0	0	1	0	0	A	121032925	G	A	121032925	2	1	81	1	0	0	0	0	0	0	0	1	15806	1190	42	2		2	TECTA	11	121032925	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	34101	121032925	13973591	9155	12771											
TECTA	7007	broad.mit.edu	37	11	121033015	121033015	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:121033015C>A	ENST00000392793.1	+	16	5479	c.5208C>A	c.(5206-5208)gcC>gcA	p.A1736A	TECTA_ENST00000264037.2_Silent_p.A1736A			O75443	TECTA_HUMAN	tectorin alpha	1736					cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		CCCTGGCCGCCTACGGGGAGG	0.537													6	26					0.0293803	0.0300537	1	1	0	A	121033015	C	A	121033015	2	1	81	1	0	0	0	0	0	0	0	1	15806	668	24	4		4	TECTA	11	121033015	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	90	121033015	13973501	9156	12772											
TECTA	7007	broad.mit.edu	37	11	121058547	121058547	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:121058547G>T	ENST00000392793.1	+	21	6277	c.6006G>T	c.(6004-6006)caG>caT	p.Q2002H	TECTA_ENST00000264037.2_Missense_Mutation_p.Q2002H			O75443	TECTA_HUMAN	tectorin alpha	2002	ZP.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		ATAGGTGTCAGAACCTCAAAG	0.398													13	116					7.03913e-09	8.42519e-09	1	1	0	T	121058547	G	T	121058547	3	4	81	1	0	0	0	0	1	0	0	0	15806	933	33	4	6084	4	TECTA	11	121058547	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	25532	121058547	13947969	9157	12773											
SORL1	6653	broad.mit.edu	37	11	121461726	121461726	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:121461726C>A	ENST00000260197.7	+	31	4359	c.4230C>A	c.(4228-4230)ccC>ccA	p.P1410P	SORL1_ENST00000534286.1_Silent_p.P320P|SORL1_ENST00000532694.1_Silent_p.P256P|SORL1_ENST00000527934.1_Silent_p.P25P|SORL1_ENST00000525532.1_Silent_p.P354P	NM_003105.5	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	1410					cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		ATATTCTTCCCTTCTCGACTC	0.512											OREG0021431	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	252					2.27111e-07	2.65192e-07	1	1	0	A	121461726	C	A	121461726	2	1	81	1	0	0	0	0	0	0	0	1	14988	668	24	4		4	SORL1	11	121461726	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	403179	121461726	13544790	9158	12774											
SORL1	6653	broad.mit.edu	37	11	121483485	121483485	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:121483485C>T	ENST00000260197.7	+	40	5492	c.5363C>T	c.(5362-5364)aCc>aTc	p.T1788I	SORL1_ENST00000534286.1_Missense_Mutation_p.T698I|SORL1_ENST00000532694.1_Missense_Mutation_p.T634I|SORL1_ENST00000527934.1_Missense_Mutation_p.T403I|SORL1_ENST00000525532.1_Missense_Mutation_p.T732I	NM_003105.5	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	1788	Fibronectin type-III 3.				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		GCATTTGACACCCACAAGCAA	0.468													12	17					0	0	1	0	0	T	121483485	C	T	121483485	3	4	81	1	0	0	0	0	1	0	0	0	14988	507	18	2	5521	2	SORL1	11	121483485	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	21759	121483485	13523031	9159	12775											
CRTAM	56253	broad.mit.edu	37	11	122722468	122722468	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:122722468C>T	ENST00000227348.4	+	3	308	c.261C>T	c.(259-261)aaC>aaT	p.N87N		NM_019604.2	NP_062550.2	O95727	CRTAM_HUMAN	cytotoxic and regulatory T cell molecule	87	Ig-like V-type.				cell recognition|detection of tumor cell|positive regulation of cytokine secretion|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target	integral to membrane|plasma membrane	receptor binding			breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|pancreas(1)|prostate(1)	19		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.28e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308)		CTGTGCCTAACGTAACCCTGC	0.448													47	68					0	0	1	0	0	T	122722468	C	T	122722468	2	4	81	1	0	0	0	0	0	0	0	1	3920	535	19	1		1	CRTAM	11	122722468	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1238983	122722468	12284048	9160	12776											
CRTAM	56253	broad.mit.edu	37	11	122726544	122726544	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:122726544C>T	ENST00000227348.4	+	5	679	c.632C>T	c.(631-633)cCc>cTc	p.P211L		NM_019604.2	NP_062550.2	O95727	CRTAM_HUMAN	cytotoxic and regulatory T cell molecule	211					cell recognition|detection of tumor cell|positive regulation of cytokine secretion|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target	integral to membrane|plasma membrane	receptor binding			breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|pancreas(1)|prostate(1)	19		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.28e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308)		CTAGTAGCACCCTTCCGGTTT	0.368													24	29					0	0	1	0	0	T	122726544	C	T	122726544	3	4	81	1	0	0	0	0	1	0	0	0	3920	623	22	2	650	2	CRTAM	11	122726544	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	4076	122726544	12279972	9161	12777											
C11orf63	79864	broad.mit.edu	37	11	122774696	122774696	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:122774696G>T	ENST00000227349.2	+	3	705	c.408G>T	c.(406-408)aaG>aaT	p.K136N	C11orf63_ENST00000307257.6_Missense_Mutation_p.K136N|C11orf63_ENST00000531316.1_Missense_Mutation_p.K136N	NM_024806.2	NP_079082.2	Q6NUN7	CK063_HUMAN	chromosome 11 open reading frame 63	136										breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	47		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)		AGAGTAAGAAGGAGGAAGGGC	0.512													70	162					2.18329e-32	2.91598e-32	1	1	0	T	122774696	G	T	122774696	3	4	81	1	0	0	0	0	1	0	0	0	1659	991	35	4	414	4	C11orf63	11	122774696	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	48152	122774696	12231820	9162	12778											
C11orf63	79864	broad.mit.edu	37	11	122775123	122775123	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:122775123delA	ENST00000227349.2	+	3	1132	c.835delA	c.(835-837)aaafs	p.K280fs	C11orf63_ENST00000307257.6_Frame_Shift_Del_p.K280fs|C11orf63_ENST00000531316.1_Frame_Shift_Del_p.K280fs	NM_024806.2	NP_079082.2	Q6NUN7	CK063_HUMAN	chromosome 11 open reading frame 63	280										breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	47		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)		ACTTCACAATAAAAAAAGAGG	0.403													26	325	---	---	---	---						-	122775123	A	-	122775123	7	5	81	1	0	1	0	1	0	0	0	0	1659	363	13	0	841	0	C11orf63	11	122775123	Frame_Shift_Del	DEL	A	TCGA-DU-6392-01A-11D-1705-08	427	122775123	12231393	9163	12779											
C11orf63	79864	broad.mit.edu	37	11	122828104	122828104	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:122828104A>G	ENST00000227349.2	+	8	2341	c.2044A>G	c.(2044-2046)Aaa>Gaa	p.K682E	C11orf63_ENST00000531316.1_Missense_Mutation_p.K682E	NM_024806.2	NP_079082.2	Q6NUN7	CK063_HUMAN	chromosome 11 open reading frame 63	682										breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	47		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)		GGAATATGCAAAACAAGTCAA	0.373													7	98					0	0	1	0	0	G	122828104	A	G	122828104	3	3	81	1	0	0	0	0	1	0	0	0	1659	15	1	3	2134	3	C11orf63	11	122828104	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	52981	122828104	12178412	9164	12780											
GRAMD1B	57476	broad.mit.edu	37	11	123465527	123465527	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:123465527T>A	ENST00000529750.1	+	5	752	c.425T>A	c.(424-426)aTc>aAc	p.I142N	GRAMD1B_ENST00000322282.7_Missense_Mutation_p.I142N|GRAMD1B_ENST00000456860.2_Missense_Mutation_p.I149N	NM_020716.1	NP_065767.1	Q3KR37	GRM1B_HUMAN	GRAM domain containing 1B	142	GRAM.					integral to membrane				NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.32e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0394)		TACAGCAACATCTTCCGCTGG	0.517													15	38					0	0	1	0	0	A	123465527	T	A	123465527	3	1	81	1	0	0	0	0	1	0	0	0	6789	1435	50	4	443	4	GRAMD1B	11	123465527	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	637423	123465527	11540989	9165	12781											
SCN3B	55800	broad.mit.edu	37	11	123513313	123513313	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:123513313C>A	ENST00000392770.2	-	3	1088	c.286G>T	c.(286-288)Ggc>Tgc	p.G96C	SCN3B_ENST00000299333.3_Missense_Mutation_p.G96C|SCN3B_ENST00000530277.1_Missense_Mutation_p.G96C	NM_018400.3	NP_060870.1	Q9NY72	SCN3B_HUMAN	sodium channel, voltage-gated, type III, beta subunit	96	Ig-like C2-type.				axon guidance	integral to membrane|plasma membrane	voltage-gated sodium channel activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|skin(2)	26		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0227)		TCCTTGCTGCCATTCCACTGC	0.567													5	68					0.217242	0.218703	1	1	0	A	123513313	C	A	123513313	3	1	81	1	0	0	0	0	1	0	0	0	13973	594	21	5	373	5	SCN3B	11	123513313	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	47786	123513313	11493203	9166	12782											
OR6M1	390261	broad.mit.edu	37	11	123676598	123676598	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:123676598C>T	ENST00000309154.2	-	1	497	c.460G>A	c.(460-462)Gtg>Atg	p.V154M		NM_001005325.1	NP_001005325.1	Q8NGM8	OR6M1_HUMAN	olfactory receptor, family 6, subfamily M, member 1	154					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(2)|skin(5)|urinary_tract(1)	29		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.028)		GGAAACAACACAGACAGGAAG	0.498													4	43					0	0	1	0	0	T	123676598	C	T	123676598	3	4	81	1	0	0	0	0	1	0	0	0	11252	478	17	2	484	2	OR6M1	11	123676598	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	163285	123676598	11329918	9167	12783											
OR6T1	219874	broad.mit.edu	37	11	123813655	123813655	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:123813655C>T	ENST00000321252.2	-	1	925	c.891G>A	c.(889-891)gtG>gtA	p.V297V		NM_001005187.1	NP_001005187.1	Q8NGN1	OR6T1_HUMAN	olfactory receptor, family 6, subfamily T, member 1	297					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		GTGCTTGCTGCACCTTGTCAT	0.502													46	107					0	0	1	0	0	T	123813655	C	T	123813655	2	4	81	1	0	0	0	0	0	0	0	1	11257	697	25	2		2	OR6T1	11	123813655	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	137057	123813655	11192861	9168	12784											
OR6T1	219874	broad.mit.edu	37	11	123814133	123814133	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:123814133C>T	ENST00000321252.2	-	1	447	c.413G>A	c.(412-414)gGc>gAc	p.G138D		NM_001005187.1	NP_001005187.1	Q8NGN1	OR6T1_HUMAN	olfactory receptor, family 6, subfamily T, member 1	138					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		ACAGACATGGCCATTCATCAG	0.567													16	27					0	0	1	0	0	T	123814133	C	T	123814133	3	4	81	1	0	0	0	0	1	0	0	0	11257	739	26	2	561	2	OR6T1	11	123814133	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	478	123814133	11192383	9169	12785											
OR10G9	219870	broad.mit.edu	37	11	123894466	123894466	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:123894466C>T	ENST00000375024.1	+	1	747	c.747C>T	c.(745-747)tgC>tgT	p.C249C		NM_001001953.1	NP_001001953.1	Q8NGN4	O10G9_HUMAN	olfactory receptor, family 10, subfamily G, member 9	249					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(33)|prostate(2)|skin(4)|stomach(8)|urinary_tract(1)	61		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		TGGTCCTTTGCTTTTTTGTTC	0.532													7	111					0	0	1	0	0	T	123894466	C	T	123894466	2	4	81	1	0	0	0	0	0	0	0	1	10952	805	28	2		2	OR10G9	11	123894466	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	80333	123894466	11112050	9170	12786											
OR10G7	390265	broad.mit.edu	37	11	123909476	123909476	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:123909476T>C	ENST00000330487.5	-	1	241	c.233A>G	c.(232-234)aAa>aGa	p.K78R		NM_001004463.1	NP_001004463.1	Q8NGN6	O10G7_HUMAN	olfactory receptor, family 10, subfamily G, member 7	78					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1)	47		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		CATCAGCATTTTGGGCACCGT	0.542													5	120					0	0	1	0	0	C	123909476	T	C	123909476	3	2	81	1	0	0	0	0	1	0	0	0	10950	1841	64	3	706	3	OR10G7	11	123909476	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	15010	123909476	11097040	9171	12787											
VWA5A	4013	broad.mit.edu	37	11	123988405	123988405	+	Silent	SNP	C	C	T	rs145152039	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:123988405C>T	ENST00000456829.2	+	4	320	c.69C>T	c.(67-69)agC>agT	p.S23S	VWA5A_ENST00000392748.1_Silent_p.S23S|VWA5A_ENST00000392744.4_Silent_p.S39S|VWA5A_ENST00000360334.4_Silent_p.S23S|VWA5A_ENST00000449321.1_Silent_p.S23S|VWA5A_ENST00000361352.5_Silent_p.S23S	NM_001130142.1	NP_001123614.1	O00534	VMA5A_HUMAN	von Willebrand factor A domain containing 5A	23	VIT.							p.S23S(1)		autonomic_ganglia(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						TCTCTGTGAGCGTGAACATTT	0.458													24	43					0	0	1	0	0	T	123988405	C	T	123988405	2	4	81	1	0	0	0	0	0	0	0	1	17302	767	27	1		1	VWA5A	11	123988405	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	78929	123988405	11018111	9172	12788											
VWA5A	4013	broad.mit.edu	37	11	123988576	123988576	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:123988576G>T	ENST00000456829.2	+	4	491	c.240G>T	c.(238-240)aaG>aaT	p.K80N	VWA5A_ENST00000392748.1_Missense_Mutation_p.K80N|VWA5A_ENST00000392744.4_Missense_Mutation_p.K96N|VWA5A_ENST00000360334.4_Missense_Mutation_p.K80N|VWA5A_ENST00000449321.1_Missense_Mutation_p.K80N|VWA5A_ENST00000361352.5_Missense_Mutation_p.K80N	NM_001130142.1	NP_001123614.1	O00534	VMA5A_HUMAN	von Willebrand factor A domain containing 5A	80	VIT.									autonomic_ganglia(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						TACAAGACAAGATGAAGGTAG	0.408													7	60					5.18039e-06	5.88187e-06	1	1	0	T	123988576	G	T	123988576	3	4	81	1	0	0	0	0	1	0	0	0	17302	933	33	4	246	4	VWA5A	11	123988576	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	171	123988576	11017940	9173	12789											
OR8G5	219865	broad.mit.edu	37	11	124135294	124135294	+	Missense_Mutation	SNP	C	C	T	rs148046413	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:124135294C>T	ENST00000524943.2	+	1	572	c.572C>T	c.(571-573)gCg>gTg	p.A191V	OR8G1_ENST00000341493.2_RNA	NM_001005198.1	NP_001005198.1			olfactory receptor, family 8, subfamily G, member 5														Breast(109;0.0157)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0523)		CTGATTTGTGCGTCAGCTCAT	0.398													75	92					0	0	1	0	0	T	124135294	C	T	124135294	3	4	81	1	0	0	0	0	1	0	0	0	11283	768	27	1	574	1	OR8G5	11	124135294	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	146718	124135294	10871222	9174	12790											
OR8B2	26595	broad.mit.edu	37	11	124252823	124252823	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:124252823C>A	ENST00000375013.2	-	1	435	c.417G>T	c.(415-417)caG>caT	p.Q139H		NM_001005468.1	NP_001005468.1	Q96RD0	OR8B2_HUMAN	olfactory receptor, family 8, subfamily B, member 2	139					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(13)|ovary(1)	23		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		TAGAACAGACCTGATGGGACA	0.463													8	13					5.4927e-09	6.5834e-09	1	1	0	A	124252823	C	A	124252823	3	1	81	1	0	0	0	0	1	0	0	0	11274	680	24	4	527	4	OR8B2	11	124252823	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	117529	124252823	10753693	9175	12791											
OR8A1	390275	broad.mit.edu	37	11	124440612	124440613	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:124440612_124440613insT	ENST00000284287.3	+	1	720_721	c.648_649insT	c.(649-651)tttfs	p.F217fs		NM_001005194.1	NP_001005194.1	Q8NGG7	OR8A1_HUMAN	olfactory receptor, family 8, subfamily A, member 1	217					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			haematopoietic_and_lymphoid_tissue(1)|lung(16)|ovary(2)|prostate(1)|skin(2)	22		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0214)		TGACAGTCTTCTTTTCGGCTGG	0.48													32	54	---	---	---	---						T	124440613	-	T	124440612	7	5	81	1	0	1	1	0	0	0	0	0	11272	912	32	0	650	0	OR8A1	11	124440612	Frame_Shift_Ins	INS	-	TCGA-DU-6392-01A-11D-1705-08	187789	124440612	10565904	9176	12792											
SIAE	54414	broad.mit.edu	37	11	124509617	124509617	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:124509617C>T	ENST00000263593.3	-	8	1285	c.1113G>A	c.(1111-1113)tcG>tcA	p.S371S	SIAE_ENST00000545756.1_Silent_p.S336S			Q9HAT2	SIAE_HUMAN	sialic acid acetylesterase	371						extracellular region|lysosome	carboxylesterase activity|sialate O-acetylesterase activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2)	15	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.63e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0243)		TGCCAAAAGGCGAGTCTCTAT	0.468													45	69					0	0	1	0	0	T	124509617	C	T	124509617	2	4	81	1	0	0	0	0	0	0	0	1	14353	755	27	1		1	SIAE	11	124509617	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	69005	124509617	10496899	9177	12793											
SPA17	53340	broad.mit.edu	37	11	124561643	124561643	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:124561643T>C	ENST00000532692.1	+	3	1698	c.277T>C	c.(277-279)Tct>Cct	p.S93P	SPA17_ENST00000227135.2_Missense_Mutation_p.S93P|SIAE_ENST00000525730.1_Intron|SPA17_ENST00000524614.1_3'UTR			Q15506	SP17_HUMAN	sperm autoantigenic protein 17	93					binding of sperm to zona pellucida|ciliary or flagellar motility|signal transduction|spermatogenesis	cytoplasm|flagellum|membrane|motile cilium|primary cilium	cAMP-dependent protein kinase regulator activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)	5	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0223)		GTCTCAGATATCTGGGAAGGA	0.383													4	63					0	0	1	0	0	C	124561643	T	C	124561643	3	2	81	1	0	0	0	0	1	0	0	0	15025	1435	50	3	287	3	SPA17	11	124561643	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	52026	124561643	10444873	9178	12794											
VSIG2	23584	broad.mit.edu	37	11	124621457	124621457	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:124621457C>A	ENST00000403470.1	-	2	136	c.81G>T	c.(79-81)aaG>aaT	p.K27N	VSIG2_ENST00000326621.5_Missense_Mutation_p.K27N			Q96IQ7	VSIG2_HUMAN	V-set and immunoglobulin domain containing 2	27	Ig-like V-type.					integral to plasma membrane|membrane fraction				central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(5)	19	all_hematologic(175;0.215)	Breast(109;0.00663)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0215)		CTGTGGGTACCTTCACCTCCA	0.657													18	31					2.94398e-08	3.49414e-08	1	1	0	A	124621457	C	A	124621457	3	1	81	1	0	0	0	0	1	0	0	0	17284	680	24	4	926	4	VSIG2	11	124621457	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	59814	124621457	10385059	9179	12795											
HEPN1	641654	broad.mit.edu	37	11	124789722	124789722	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:124789722C>T	ENST00000408930.5	+	1	577	c.76C>T	c.(76-78)Caa>Taa	p.Q26*	HEPACAM_ENST00000298251.4_3'UTR	NM_001037558.2	NP_001032647.2	Q6WQI6	HEPN1_HUMAN	hepatocellular carcinoma, down-regulated 1	26						cytoplasm				large_intestine(1)|lung(1)|stomach(1)	3	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0287)		ACTAGGGATGCAAGGACCCTT	0.498													19	28					0	0	1	0	0	T	124789722	C	T	124789722	4	4	81	1	0	0	0	0	0	1	0	0	7097	711	25	2	78	2	HEPN1	11	124789722	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	168265	124789722	10216794	9180	12796											
HEPACAM	220296	broad.mit.edu	37	11	124793761	124793761	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:124793761C>T	ENST00000298251.4	-	3	978	c.573G>A	c.(571-573)tcG>tcA	p.S191S		NM_152722.4	NP_689935.2	Q14CZ8	HECAM_HUMAN	hepatic and glial cell adhesion molecule	191	Ig-like C2-type.				cell adhesion|cell cycle arrest|regulation of growth	cytoplasm|integral to membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.54e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308)		GGAGCATTCTCGAGTCATTGA	0.582													9	20					0	0	1	0	0	T	124793761	C	T	124793761	2	4	81	1	0	0	0	0	0	0	0	1	7093	871	31	1		1	HEPACAM	11	124793761	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	4039	124793761	10212755	9181	12797											
SLC37A2	219855	broad.mit.edu	37	11	124947386	124947386	+	Silent	SNP	C	C	T	rs146902663	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:124947386C>T	ENST00000403796.2	+	4	577	c.276C>T	c.(274-276)aaC>aaT	p.N92N	SLC37A2_ENST00000298280.5_Silent_p.N92N|SLC37A2_ENST00000407458.1_Silent_p.N92N|SLC37A2_ENST00000308074.4_Silent_p.N92N	NM_001145290.1	NP_001138762.1	Q8TED4	SPX2_HUMAN	solute carrier family 37 (glucose-6-phosphate transporter), member 2	92					carbohydrate transport|transmembrane transport	integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	27	all_hematologic(175;0.215)	Breast(109;0.012)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.152)|all_lung(97;0.159)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0384)		GCGTGGACAACGCCTTCCTCA	0.537													20	25					0	0	1	0	0	T	124947386	C	T	124947386	2	4	81	1	0	0	0	0	0	0	0	1	14653	535	19	1		1	SLC37A2	11	124947386	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	153625	124947386	10059130	9182	12798											
FEZ1	9638	broad.mit.edu	37	11	125359496	125359496	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:125359496C>A	ENST00000278919.3	-	2	412	c.178G>T	c.(178-180)Gag>Tag	p.E60*	FEZ1_ENST00000524435.1_Nonsense_Mutation_p.E60*|FEZ1_ENST00000366139.3_Nonsense_Mutation_p.E60*	NM_005103.4	NP_005094.1	Q99689	FEZ1_HUMAN	fasciculation and elongation protein zeta 1 (zygin I)	60					axon guidance|cell adhesion|transport	microtubule|plasma membrane				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	24	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0934)		ACGAGGTCCTCCATGGACTTG	0.483													14	81					0.00185496	0.00197056	1	1	0	A	125359496	C	A	125359496	4	1	81	1	0	0	0	0	0	1	0	0	5856	864	30	5	1040	5	FEZ1	11	125359496	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	412110	125359496	9647020	9183	12799											
EI24	9538	broad.mit.edu	37	11	125446203	125446203	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:125446203G>T	ENST00000278903.6	+	4	483	c.241G>T	c.(241-243)Gtg>Ttg	p.V81L	EI24_ENST00000343678.4_Missense_Mutation_p.V81L|STT3A-AS1_ENST00000532714.1_RNA|STT3A-AS1_ENST00000530526.1_RNA|EI24_ENST00000530985.1_3'UTR	NM_004879.3	NP_004870.3	O14681	EI24_HUMAN	etoposide induced 2.4	81					apoptosis|autophagy|induction of apoptosis|negative regulation of cell growth	endoplasmic reticulum membrane|integral to membrane|nuclear membrane				large_intestine(1)|lung(9)|ovary(1)	11	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.64e-07)|OV - Ovarian serous cystadenocarcinoma(99;0.0975)		GAATGGTGGAGTGTTCTGGGT	0.368													8	27					3.09899e-07	3.60815e-07	1	1	0	T	125446203	G	T	125446203	3	4	81	1	0	0	0	0	1	0	0	0	5011	1029	36	4	251	4	EI24	11	125446203	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	86707	125446203	9560313	9184	12800											
EI24	9538	broad.mit.edu	37	11	125448918	125448918	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:125448918C>T	ENST00000278903.6	+	7	757	c.515C>T	c.(514-516)gCt>gTt	p.A172V	EI24_ENST00000343678.4_Missense_Mutation_p.A172V|STT3A-AS1_ENST00000532714.1_RNA|STT3A-AS1_ENST00000530526.1_RNA|EI24_ENST00000530985.1_3'UTR	NM_004879.3	NP_004870.3	O14681	EI24_HUMAN	etoposide induced 2.4	172					apoptosis|autophagy|induction of apoptosis|negative regulation of cell growth	endoplasmic reticulum membrane|integral to membrane|nuclear membrane				large_intestine(1)|lung(9)|ovary(1)	11	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.64e-07)|OV - Ovarian serous cystadenocarcinoma(99;0.0975)		AAAATAATTGCTGACATGCTC	0.433													2	1					0	0	1	0	0	T	125448918	C	T	125448918	3	4	81	1	0	0	0	0	1	0	0	0	5011	797	28	2	537	2	EI24	11	125448918	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2715	125448918	9557598	9185	12801											
EI24	9538	broad.mit.edu	37	11	125452284	125452284	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:125452284C>T	ENST00000343678.4	+	9	958	c.716C>T	c.(715-717)gCg>gTg	p.A239V	STT3A-AS1_ENST00000532714.1_RNA|STT3A-AS1_ENST00000530526.1_RNA|EI24_ENST00000530985.1_3'UTR|EI24_ENST00000278903.6_Silent_p.S276S	NM_001007277.1	NP_001007278.1	O14681	EI24_HUMAN	etoposide induced 2.4	94					apoptosis|autophagy|induction of apoptosis|negative regulation of cell growth	endoplasmic reticulum membrane|integral to membrane|nuclear membrane				large_intestine(1)|lung(9)|ovary(1)	11	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.64e-07)|OV - Ovarian serous cystadenocarcinoma(99;0.0975)		TCATTATCAGCGCCAATGAAG	0.368													3	5					0	0	1	0	0	T	125452284	C	T	125452284	3	4	81	1	0	0	0	0	1	0	0	0	5011	768	27	1	862	1	EI24	11	125452284	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3366	125452284	9554232	9186	12802											
STT3A	3703	broad.mit.edu	37	11	125488335	125488335	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:125488335G>A	ENST00000392708.4	+	16	2001	c.1842G>A	c.(1840-1842)gaG>gaA	p.E614E	STT3A_ENST00000529196.1_Silent_p.E614E|STT3A_ENST00000531491.1_Silent_p.E522E	NM_001278503.1|NM_001278504.1|NM_152713.3	NP_001265432.1|NP_001265433.1|NP_689926.1	P46977	STT3A_HUMAN	STT3A, subunit of the oligosaccharyltransferase complex (catalytic)	614					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity			NS(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(15)|skin(1)	33	all_hematologic(175;0.228)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0996)		ATATCAAGGAGAATGACTATT	0.438													33	73					0	0	1	0	0	A	125488335	G	A	125488335	2	1	81	1	0	0	0	0	0	0	0	1	15389	933	33	2		2	STT3A	11	125488335	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	36051	125488335	9518181	9187	12803											
CHEK1	1111	broad.mit.edu	37	11	125497521	125497521	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:125497521A>G	ENST00000534070.1	+	3	340	c.85A>G	c.(85-87)Aga>Gga	p.R29G	CHEK1_ENST00000427383.2_Intron|CHEK1_ENST00000438015.1_Missense_Mutation_p.R29G|CHEK1_ENST00000524737.1_Missense_Mutation_p.R29G|CHEK1_ENST00000428830.2_Missense_Mutation_p.R29G|CHEK1_ENST00000278916.3_Missense_Mutation_p.R29G|CHEK1_ENST00000532449.1_Intron|CHEK1_ENST00000544373.1_Missense_Mutation_p.R29G	NM_001274.5	NP_001265.2	O14757	CHK1_HUMAN	checkpoint kinase 1	29	Protein kinase.				cellular response to mechanical stimulus|DNA repair|DNA replication|gamete generation|negative regulation of cell proliferation|reciprocal meiotic recombination|regulation of cyclin-dependent protein kinase activity|replicative senescence	condensed nuclear chromosome|microtubule organizing center|nucleoplasm	ATP binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(3)|endometrium(3)|large_intestine(2)|lung(16)|skin(1)|upper_aerodigestive_tract(1)	26	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0748)		TGCTGTGAATAGAGTAACTGA	0.338								Other conserved DNA damage response genes					6	48					0	0	1	0	0	G	125497521	A	G	125497521	3	3	81	1	0	0	0	0	1	0	0	0	3356	412	15	3	91	3	CHEK1	11	125497521	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	9186	125497521	9508995	9188	12804											
CHEK1	1111	broad.mit.edu	37	11	125503111	125503111	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:125503111C>T	ENST00000534070.1	+	6	733	c.478C>T	c.(478-480)Cgt>Tgt	p.R160C	CHEK1_ENST00000427383.2_Missense_Mutation_p.R176C|CHEK1_ENST00000438015.1_Missense_Mutation_p.R160C|CHEK1_ENST00000524737.1_Missense_Mutation_p.R160C|CHEK1_ENST00000428830.2_Missense_Mutation_p.R160C|CHEK1_ENST00000278916.3_Missense_Mutation_p.R160C|CHEK1_ENST00000532449.1_3'UTR|CHEK1_ENST00000544373.1_Missense_Mutation_p.R160C	NM_001274.5	NP_001265.2	O14757	CHK1_HUMAN	checkpoint kinase 1	160	Protein kinase.				cellular response to mechanical stimulus|DNA repair|DNA replication|gamete generation|negative regulation of cell proliferation|reciprocal meiotic recombination|regulation of cyclin-dependent protein kinase activity|replicative senescence	condensed nuclear chromosome|microtubule organizing center|nucleoplasm	ATP binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(3)|endometrium(3)|large_intestine(2)|lung(16)|skin(1)|upper_aerodigestive_tract(1)	26	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0748)		GTATAATAATCGTGAGCGTTT	0.358								Other conserved DNA damage response genes					50	56					0	0	1	0	0	T	125503111	C	T	125503111	3	4	81	1	0	0	0	0	1	0	0	0	3356	884	31	1	496	1	CHEK1	11	125503111	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	5590	125503111	9503405	9189	12805											
ACRV1	56	broad.mit.edu	37	11	125547891	125547891	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:125547891C>T	ENST00000533904.1	-	2	696	c.354G>A	c.(352-354)caG>caA	p.Q118Q	ACRV1_ENST00000348856.3_Silent_p.Q63Q|ACRV1_ENST00000353070.1_Intron|ACRV1_ENST00000530048.1_Silent_p.Q63Q|ACRV1_ENST00000425431.1_Intron|ACRV1_ENST00000445562.1_Intron|ACRV1_ENST00000345274.1_Silent_p.Q48Q|ACRV1_ENST00000453509.1_Silent_p.Q48Q|ACRV1_ENST00000527795.1_Silent_p.Q48Q|ACRV1_ENST00000315608.3_Silent_p.Q118Q			P26436	ASPX_HUMAN	acrosomal vesicle protein 1	118	4 X 4 AA repeats of S-G-E-H.|9 X 5 AA repeats of [SV]-G-E-Q-[PSA].				multicellular organismal development	acrosomal vesicle				kidney(1)|large_intestine(3)|lung(2)	6	all_hematologic(175;0.177)	Breast(109;0.0021)|all_lung(97;0.0179)|Lung NSC(97;0.0185)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0713)		CACCTGAAGGCTGTTCTCCTG	0.542													31	65					0	0	1	0	0	T	125547891	C	T	125547891	2	4	81	1	0	0	0	0	0	0	0	1	172	796	28	2		2	ACRV1	11	125547891	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	44780	125547891	9458625	9190	12806											
DDX25	29118	broad.mit.edu	37	11	125778165	125778165	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:125778165C>A	ENST00000263576.6	+	5	541	c.386C>A	c.(385-387)cCt>cAt	p.P129H	RP11-680F20.9_ENST00000533033.2_RNA|DDX25_ENST00000525943.1_3'UTR	NM_013264.4	NP_037396.3	Q9UHL0	DDX25_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 25	129					mRNA export from nucleus|multicellular organismal development|regulation of translation|spermatid development	chromatoid body|nucleus	ATP binding|ATP-dependent RNA helicase activity|RNA binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|ovary(2)|upper_aerodigestive_tract(1)	10	all_hematologic(175;0.177)	Breast(109;0.0021)|all_lung(97;0.0203)|Lung NSC(97;0.0203)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.14e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.046)		ATGGCTCTCCCTATGATGCTG	0.368													3	26					1	1	1	1	0	A	125778165	C	A	125778165	3	1	81	1	0	0	0	0	1	0	0	0	4375	681	24	4	404	4	DDX25	11	125778165	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	230274	125778165	9228351	9191	12807											
CDON	50937	broad.mit.edu	37	11	125873880	125873880	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:125873880G>T	ENST00000392693.3	-	10	2070	c.1943C>A	c.(1942-1944)tCt>tAt	p.S648Y	CDON_ENST00000531738.1_Missense_Mutation_p.S25Y|CDON_ENST00000263577.7_Missense_Mutation_p.S648Y	NM_001243597.1|NM_016952.4	NP_001230526.1|NP_058648.4	Q4KMG0	CDON_HUMAN	cell adhesion associated, oncogene regulated	648	Fibronectin type-III 1.				cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	protein binding			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(9)|ovary(3)|prostate(2)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	61	all_hematologic(175;0.177)	Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604)		ATAAAGACTAGATGGCTCCAG	0.537													5	46					2.7689e-08	3.2887e-08	1	1	0	T	125873880	G	T	125873880	3	4	81	1	0	0	0	0	1	0	0	0	3192	942	33	4	1895	4	CDON	11	125873880	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	95715	125873880	9132636	9192	12808											
CDON	50937	broad.mit.edu	37	11	125889636	125889636	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:125889636G>A	ENST00000392693.3	-	4	501	c.374C>T	c.(373-375)aCa>aTa	p.T125I	CDON_ENST00000263577.7_Missense_Mutation_p.T125I	NM_001243597.1|NM_016952.4	NP_001230526.1|NP_058648.4	Q4KMG0	CDON_HUMAN	cell adhesion associated, oncogene regulated	125	Ig-like C2-type 2.				cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	protein binding			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(9)|ovary(3)|prostate(2)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	61	all_hematologic(175;0.177)	Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604)		AACATGCTTTGTGGATGAACC	0.368													22	50					0	0	1	0	0	A	125889636	G	A	125889636	3	1	81	1	0	0	0	0	1	0	0	0	3192	1377	48	2	3488	2	CDON	11	125889636	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	15756	125889636	9116880	9193	12809											
SRPR	6734	broad.mit.edu	37	11	126136713	126136713	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:126136713G>A	ENST00000332118.6	-	5	785	c.631C>T	c.(631-633)Cgc>Tgc	p.R211C	SRPR_ENST00000532259.1_Missense_Mutation_p.R183C	NM_003139.3	NP_003130.2	P08240	SRPR_HUMAN	signal recognition particle receptor (docking protein)	211					SRP-dependent cotranslational protein targeting to membrane	integral to membrane|signal recognition particle receptor complex	GTP binding|GTPase activity|receptor activity|signal recognition particle binding			endometrium(7)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)	21	all_hematologic(175;0.145)			BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0736)		CGCTTCCTGCGGATCAGCTCC	0.498													82	128					0	0	1	0	0	A	126136713	G	A	126136713	3	1	81	1	0	0	0	0	1	0	0	0	15218	1116	39	1	1325	1	SRPR	11	126136713	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	247077	126136713	8869803	9194	12810											
SRPR	6734	broad.mit.edu	37	11	126137106	126137107	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:126137106_126137107insT	ENST00000332118.6	-	4	643_644	c.489_490insA	c.(487-492)aaagcafs	p.A164fs	SRPR_ENST00000532259.1_Frame_Shift_Ins_p.A136fs	NM_003139.3	NP_003130.2	P08240	SRPR_HUMAN	signal recognition particle receptor (docking protein)	164					SRP-dependent cotranslational protein targeting to membrane	integral to membrane|signal recognition particle receptor complex	GTP binding|GTPase activity|receptor activity|signal recognition particle binding			endometrium(7)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)	21	all_hematologic(175;0.145)			BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0736)		CTATTCTTTGCTTTTTCCTTGG	0.45													17	276	---	---	---	---						T	126137107	-	T	126137106	7	5	81	1	0	1	1	0	0	0	0	0	15218	797	28	0	1470	0	SRPR	11	126137106	Frame_Shift_Ins	INS	-	TCGA-DU-6392-01A-11D-1705-08	393	126137106	8869410	9195	12811											
FOXRED1	55572	broad.mit.edu	37	11	126141551	126141551	+	Splice_Site	SNP	C	C	T	rs77785510		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:126141551C>T	ENST00000263578.5	+	2	379	c.305C>T	c.(304-306)aCg>aTg	p.T102M	FOXRED1_ENST00000534011.1_Intron|FOXRED1_ENST00000442061.2_Intron|FOXRED1_ENST00000532125.1_Splice_Site_p.T88M	NM_017547.3	NP_060017.1	Q96CU9	FXRD1_HUMAN	FAD-dependent oxidoreductase domain containing 1	102						integral to membrane|mitochondrion	oxidoreductase activity|protein binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(1)	15	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0739)|all_lung(97;0.0798)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0729)		CGGGACCACACGGTGAGGTCT	0.552													19	43					0	0	1	0	0	T	126141551	C	T	126141551	5	4	81	1	0	0	0	0	0	0	1	0	6067	550	19	1	311	1	FOXRED1	11	126141551	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	4445	126141551	8864965	9196	12812											
FOXRED1	55572	broad.mit.edu	37	11	126145996	126145996	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:126145996G>A	ENST00000263578.5	+	8	927	c.853G>A	c.(853-855)Gcc>Acc	p.A285T	FOXRED1_ENST00000534011.1_3'UTR|FOXRED1_ENST00000442061.2_Missense_Mutation_p.A115T|FOXRED1_ENST00000532125.1_Missense_Mutation_p.A271T	NM_017547.3	NP_060017.1	Q96CU9	FXRD1_HUMAN	FAD-dependent oxidoreductase domain containing 1	285						integral to membrane|mitochondrion	oxidoreductase activity|protein binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(1)	15	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0739)|all_lung(97;0.0798)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0729)		TGTGGAATGCGCCATTGTGAT	0.642													9	27					0	0	1	0	0	A	126145996	G	A	126145996	3	1	81	1	0	0	0	0	1	0	0	0	6067	1087	38	1	883	1	FOXRED1	11	126145996	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	4445	126145996	8860520	9197	12813											
KIRREL3	84623	broad.mit.edu	37	11	126301387	126301387	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:126301387G>A	ENST00000525144.2	-	14	1872	c.1623C>T	c.(1621-1623)gcC>gcT	p.A541A	KIRREL3_ENST00000529097.2_Silent_p.A529A|KIRREL3_ENST00000416561.2_Silent_p.A8A|KIRREL3_ENST00000525704.2_Silent_p.A541A	NM_032531.3	NP_115920.1	Q8IZU9	KIRR3_HUMAN	kin of IRRE like 3 (Drosophila)	541					hemopoiesis	extracellular region|integral to membrane|plasma membrane	protein binding			central_nervous_system(1)|endometrium(5)|large_intestine(11)|lung(8)|ovary(3)|prostate(1)	29	all_hematologic(175;0.145)	Lung NSC(97;0.0484)|all_lung(97;0.0522)|Medulloblastoma(222;0.0523)|Breast(109;0.0949)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;6.03e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.12)		CAGCTCCTACGGCCACCCCAA	0.602													17	16					0	0	1	0	0	A	126301387	G	A	126301387	2	1	81	1	0	0	0	0	0	0	0	1	8369	1103	39	1		1	KIRREL3	11	126301387	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	155391	126301387	8705129	9198	12814											
KIRREL3	84623	broad.mit.edu	37	11	126333072	126333072	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:126333072G>A	ENST00000525144.2	-	6	971	c.722C>T	c.(721-723)tCg>tTg	p.S241L	KIRREL3_ENST00000529097.2_Missense_Mutation_p.S241L|KIRREL3_ENST00000525704.2_Missense_Mutation_p.S241L	NM_032531.3	NP_115920.1	Q8IZU9	KIRR3_HUMAN	kin of IRRE like 3 (Drosophila)	241	Ig-like C2-type 2.				hemopoiesis	extracellular region|integral to membrane|plasma membrane	protein binding			central_nervous_system(1)|endometrium(5)|large_intestine(11)|lung(8)|ovary(3)|prostate(1)	29	all_hematologic(175;0.145)	Lung NSC(97;0.0484)|all_lung(97;0.0522)|Medulloblastoma(222;0.0523)|Breast(109;0.0949)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;6.03e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.12)		AATGGTGACCGACGTCTCCTT	0.617													5	53					0	0	1	0	0	A	126333072	G	A	126333072	3	1	81	1	0	0	0	0	1	0	0	0	8369	1059	37	1	1769	1	KIRREL3	11	126333072	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	31685	126333072	8673444	9199	12815											
ETS1	2113	broad.mit.edu	37	11	128350152	128350152	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:128350152G>A	ENST00000392668.4	-	8	1141	c.1057C>T	c.(1057-1059)Cgg>Tgg	p.R353W	ETS1_ENST00000526145.2_Intron|ETS1_ENST00000319397.6_Missense_Mutation_p.R309W|ETS1_ENST00000535549.1_Missense_Mutation_p.R93W|ETS1_ENST00000345075.4_Intron|ETS1_ENST00000531611.1_Intron	NM_001143820.1	NP_001137292.1	P14921	ETS1_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog 1						cell motility|immune response|induction of apoptosis|negative regulation of cell cycle|negative regulation of cell proliferation|PML body organization|positive regulation of cellular component movement|positive regulation of erythrocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|response to antibiotic|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|pleura(1)|prostate(1)|upper_aerodigestive_tract(3)	35	all_hematologic(175;0.0537)	Lung NSC(97;0.000542)|all_lung(97;0.000665)|Breast(109;0.00765)|all_neural(223;0.0351)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;1.47e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0174)|LUSC - Lung squamous cell carcinoma(976;0.0815)|Lung(307;0.0833)		GCACGGTCCCGCACATAGTCC	0.597													14	31					0	0	1	0	0	A	128350152	G	A	128350152	3	1	81	1	0	0	0	0	1	0	0	0	5303	1086	38	1	412	1	ETS1	11	128350152	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2017080	128350152	6656364	9200	12816											
ETS1	2113	broad.mit.edu	37	11	128426321	128426321	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:128426321G>A	ENST00000392668.4	-	3	163	c.79C>T	c.(79-81)Cct>Tct	p.P27S	ETS1_ENST00000525404.1_5'UTR	NM_001143820.1	NP_001137292.1	P14921	ETS1_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog 1						cell motility|immune response|induction of apoptosis|negative regulation of cell cycle|negative regulation of cell proliferation|PML body organization|positive regulation of cellular component movement|positive regulation of erythrocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|response to antibiotic|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|pleura(1)|prostate(1)|upper_aerodigestive_tract(3)	35	all_hematologic(175;0.0537)	Lung NSC(97;0.000542)|all_lung(97;0.000665)|Breast(109;0.00765)|all_neural(223;0.0351)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;1.47e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0174)|LUSC - Lung squamous cell carcinoma(976;0.0815)|Lung(307;0.0833)		GTGTTGCTAGGTCCTTGCCTC	0.393													23	19					0	0	1	0	0	A	128426321	G	A	128426321	3	1	81	1	0	0	0	0	1	0	0	0	5303	1261	44	2	1496	2	ETS1	11	128426321	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	76169	128426321	6580195	9201	12817											
FLI1	2313	broad.mit.edu	37	11	128675297	128675297	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:128675297G>A	ENST00000527786.2	+	6	1181	c.692G>A	c.(691-693)gGc>gAc	p.G231D	FLI1_ENST00000534087.2_Missense_Mutation_p.G198D|FLI1_ENST00000344954.6_Missense_Mutation_p.G198D|FLI1_ENST00000281428.8_Missense_Mutation_p.G165D|FLI1_ENST00000525560.1_Missense_Mutation_p.G38D	NM_001271010.1|NM_002017.4	NP_001257939.1|NP_002008.2	Q01543	FLI1_HUMAN	Fli-1 proto-oncogene, ETS transcription factor						hemostasis|organ morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		EWSR1/FLI1(2569)	NS(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(2)	31	all_hematologic(175;0.0641)	Lung NSC(97;0.00588)|all_lung(97;0.00764)|Breast(109;0.0115)|Medulloblastoma(222;0.0523)|all_neural(223;0.0862)|all_hematologic(192;0.182)		OV - Ovarian serous cystadenocarcinoma(99;0.01)|LUSC - Lung squamous cell carcinoma(976;0.0324)|Lung(977;0.0327)		GGAGCTTGGGGCAATAACATG	0.408			T	EWSR1	Ewing sarcoma								3	11					0	0	1	0	0	A	128675297	G	A	128675297	3	1	81	1	0	0	0	0	1	0	0	0	5957	1203	42	2	714	2	FLI1	11	128675297	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	248976	128675297	6331219	9202	12818											
FLI1	2313	broad.mit.edu	37	11	128680652	128680652	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:128680652G>A	ENST00000527786.2	+	9	1617	c.1128G>A	c.(1126-1128)tcG>tcA	p.S376S	FLI1_ENST00000534087.2_Silent_p.S343S|FLI1_ENST00000344954.6_Silent_p.S343S|FLI1_ENST00000281428.8_Silent_p.S310S|FLI1_ENST00000525560.1_Silent_p.S183S	NM_001271010.1|NM_002017.4	NP_001257939.1|NP_002008.2	Q01543	FLI1_HUMAN	Fli-1 proto-oncogene, ETS transcription factor						hemostasis|organ morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		EWSR1/FLI1(2569)	NS(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(2)	31	all_hematologic(175;0.0641)	Lung NSC(97;0.00588)|all_lung(97;0.00764)|Breast(109;0.0115)|Medulloblastoma(222;0.0523)|all_neural(223;0.0862)|all_hematologic(192;0.182)		OV - Ovarian serous cystadenocarcinoma(99;0.01)|LUSC - Lung squamous cell carcinoma(976;0.0324)|Lung(977;0.0327)		CGACCGAGTCGTCCATGTACA	0.498			T	EWSR1	Ewing sarcoma								21	16					0	0	1	0	0	A	128680652	G	A	128680652	2	1	81	1	0	0	0	0	0	0	0	1	5957	1132	40	1		1	FLI1	11	128680652	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	5355	128680652	6325864	9203	12819											
C11orf45	219833	broad.mit.edu	37	11	128774420	128774420	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:128774420C>T	ENST00000310799.3	-	2	235	c.42G>A	c.(40-42)acG>acA	p.T14T	KCNJ5_ENST00000529694.1_Intron|C11orf45_ENST00000524878.1_Silent_p.T14T|KCNJ5_ENST00000338350.4_Intron	NM_001256088.1|NM_145013.2	NP_001243017.1|NP_659450.1	Q8TAV5	CK045_HUMAN	chromosome 11 open reading frame 45	14						extracellular region				endometrium(1)|kidney(1)|lung(2)|pancreas(1)|prostate(2)	7	all_hematologic(175;0.0641)	Lung NSC(97;0.00521)|Breast(109;0.00715)|all_lung(97;0.0111)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.00531)|LUSC - Lung squamous cell carcinoma(976;0.0193)|Lung(977;0.0195)		gcggagaGGTCGtgctactca	0.582													37	30					0	0	1	0	0	T	128774420	C	T	128774420	2	4	81	1	0	0	0	0	0	0	0	1	1647	871	31	1		1	C11orf45	11	128774420	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	93768	128774420	6232096	9204	12820											
KCNJ5	3762	broad.mit.edu	37	11	128781290	128781290	+	Missense_Mutation	SNP	G	G	A	rs139073333	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:128781290G>A	ENST00000529694.1	+	2	498	c.122G>A	c.(121-123)cGc>cAc	p.R41H	KCNJ5_ENST00000533599.1_Missense_Mutation_p.R41H|KCNJ5_ENST00000338350.4_Missense_Mutation_p.R41H	NM_000890.3	NP_000881.3	P48544	IRK5_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 5	41					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding	p.R41H(1)		NS(1)|breast(1)|endometrium(4)|large_intestine(4)|liver(2)|lung(9)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_hematologic(175;0.0641)	Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215)	Glibenclamide(DB01016)	GACCGTACGCGCCTGCTGGCC	0.597													28	48					0	0	1	0	0	A	128781290	G	A	128781290	3	1	81	1	0	0	0	0	1	0	0	0	8098	1087	38	1	124	1	KCNJ5	11	128781290	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	6870	128781290	6225226	9205	12821											
KCNJ5	3762	broad.mit.edu	37	11	128781759	128781759	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:128781759G>A	ENST00000529694.1	+	2	967	c.591G>A	c.(589-591)gcG>gcA	p.A197A	KCNJ5_ENST00000533599.1_Silent_p.A197A|KCNJ5_ENST00000338350.4_Silent_p.A197A	NM_000890.3	NP_000881.3	P48544	IRK5_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 5	197					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			NS(1)|breast(1)|endometrium(4)|large_intestine(4)|liver(2)|lung(9)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_hematologic(175;0.0641)	Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215)	Glibenclamide(DB01016)	AGAAGAGAGCGGAGACCCTCA	0.567													52	55					0	0	1	0	0	A	128781759	G	A	128781759	2	1	81	1	0	0	0	0	0	0	0	1	8098	1103	39	1		1	KCNJ5	11	128781759	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	469	128781759	6224757	9206	12822											
KCNJ5	3762	broad.mit.edu	37	11	128781940	128781940	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:128781940A>G	ENST00000529694.1	+	2	1148	c.772A>G	c.(772-774)Aac>Gac	p.N258D	KCNJ5_ENST00000533599.1_Missense_Mutation_p.N258D|KCNJ5_ENST00000338350.4_Missense_Mutation_p.N258D	NM_000890.3	NP_000881.3	P48544	IRK5_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 5	258					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			NS(1)|breast(1)|endometrium(4)|large_intestine(4)|liver(2)|lung(9)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_hematologic(175;0.0641)	Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215)	Glibenclamide(DB01016)	GACAGACATCAACGTGGGCTT	0.577													25	51					0	0	1	0	0	G	128781940	A	G	128781940	3	3	81	1	0	0	0	0	1	0	0	0	8098	130	5	3	774	3	KCNJ5	11	128781940	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	181	128781940	6224576	9207	12823											
ARHGAP32	9743	broad.mit.edu	37	11	128839787	128839787	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:128839787C>T	ENST00000310343.9	-	22	5278	c.5279G>A	c.(5278-5280)cGt>cAt	p.R1760H	ARHGAP32_ENST00000524655.1_3'UTR|ARHGAP32_ENST00000392657.3_Missense_Mutation_p.R1411H|ARHGAP32_ENST00000527272.1_Missense_Mutation_p.R1411H	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	1760	Interaction with FYN.				cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						CTGCCGAGCACGGCTCTCTCT	0.552													35	35					0	0	1	0	0	T	128839787	C	T	128839787	3	4	81	1	0	0	0	0	1	0	0	0	878	536	19	1	988	1	ARHGAP32	11	128839787	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	57847	128839787	6166729	9208	12824											
BARX2	8538	broad.mit.edu	37	11	129321276	129321276	+	Silent	SNP	G	G	A	rs139211336	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:129321276G>A	ENST00000281437.4	+	4	915	c.819G>A	c.(817-819)tcG>tcA	p.S273S	BARX2_ENST00000531946.1_Silent_p.S151S|BARX2_ENST00000526127.1_Silent_p.S128S	NM_003658.4	NP_003649.2	Q9UMQ3	BARX2_HUMAN	BARX homeobox 2	273										breast(1)|central_nervous_system(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	20	all_hematologic(175;0.0749)	Lung NSC(97;0.000383)|all_lung(97;0.000824)|Breast(109;0.000962)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.00929)|Lung(977;0.0245)|LUSC - Lung squamous cell carcinoma(976;0.0253)		TACCCTCTTCGGAACCCCCAC	0.542													25	38					0	0	1	0	0	A	129321276	G	A	129321276	2	1	81	1	0	0	0	0	0	0	0	1	1314	1103	39	1		1	BARX2	11	129321276	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	481489	129321276	5685240	9209	12825											
NFRKB	4798	broad.mit.edu	37	11	129739838	129739838	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:129739838A>G	ENST00000446488.3	-	23	3185	c.3082T>C	c.(3082-3084)Tca>Cca	p.S1028P	NFRKB_ENST00000524794.1_Missense_Mutation_p.S1053P|NFRKB_ENST00000524746.1_Missense_Mutation_p.S1028P|NFRKB_ENST00000304521.5_Missense_Mutation_p.S1028P	NM_001143835.1	NP_001137307.1	Q6P4R8	NFRKB_HUMAN	nuclear factor related to kappaB binding protein	1028					DNA recombination|DNA repair|inflammatory response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Ino80 complex	DNA binding|protease binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(13)|ovary(4)|skin(3)|urinary_tract(1)	32	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184)		GCACTGGCTGAACTGGCCTTG	0.537													13	51					0	0	1	0	0	G	129739838	A	G	129739838	3	3	81	1	0	0	0	0	1	0	0	0	10431	246	9	3	833	3	NFRKB	11	129739838	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	418562	129739838	5266678	9210	12826											
PRDM10	56980	broad.mit.edu	37	11	129772399	129772399	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:129772399A>G	ENST00000358825.5	-	22	3523	c.3292T>C	c.(3292-3294)Tta>Cta	p.L1098L	PRDM10_ENST00000360871.3_Silent_p.L1094L|PRDM10_ENST00000304538.6_Silent_p.L961L|PRDM10_ENST00000526082.1_Silent_p.L1012L|PRDM10_ENST00000528746.1_Silent_p.L1055L|PRDM10_ENST00000423662.2_Silent_p.L999L	NM_020228.2	NP_064613.2	Q9NQV6	PRD10_HUMAN	PR domain containing 10	1085					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)		CTTTCTGATAACACATAATGA	0.488													13	31					0	0	1	0	0	G	129772399	A	G	129772399	2	3	81	1	0	0	0	0	0	0	0	1	12503	40	2	3		3	PRDM10	11	129772399	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	32561	129772399	5234117	9211	12827											
PRDM10	56980	broad.mit.edu	37	11	129787027	129787027	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:129787027C>T	ENST00000358825.5	-	16	2563	c.2332G>A	c.(2332-2334)Gat>Aat	p.D778N	PRDM10_ENST00000360871.3_Missense_Mutation_p.D774N|PRDM10_ENST00000304538.6_Missense_Mutation_p.D688N|PRDM10_ENST00000526082.1_Missense_Mutation_p.D692N|PRDM10_ENST00000528746.1_Missense_Mutation_p.D748N|PRDM10_ENST00000423662.2_Missense_Mutation_p.D692N	NM_020228.2	NP_064613.2	Q9NQV6	PRD10_HUMAN	PR domain containing 10	778					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.D774N(1)		breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)		TTTACCTTATCGCAATACTGA	0.378													25	37					0	0	1	0	0	T	129787027	C	T	129787027	3	4	81	1	0	0	0	0	1	0	0	0	12503	884	31	1	1178	1	PRDM10	11	129787027	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	14628	129787027	5219489	9212	12828											
PRDM10	56980	broad.mit.edu	37	11	129788582	129788582	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:129788582C>A	ENST00000358825.5	-	15	2309	c.2078G>T	c.(2077-2079)aGg>aTg	p.R693M	PRDM10_ENST00000360871.3_Missense_Mutation_p.R689M|PRDM10_ENST00000304538.6_Missense_Mutation_p.R603M|PRDM10_ENST00000526082.1_Missense_Mutation_p.R607M|PRDM10_ENST00000528746.1_Missense_Mutation_p.R663M|PRDM10_ENST00000423662.2_Missense_Mutation_p.R607M	NM_020228.2	NP_064613.2	Q9NQV6	PRD10_HUMAN	PR domain containing 10	693					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)		ATTATGCATCCTCTGCATGTG	0.493													18	268					1.10513e-12	1.38486e-12	1	1	0	A	129788582	C	A	129788582	3	1	81	1	0	0	0	0	1	0	0	0	12503	681	24	4	1436	4	PRDM10	11	129788582	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1555	129788582	5217934	9213	12829											
PRDM10	56980	broad.mit.edu	37	11	129800970	129800970	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:129800970C>T	ENST00000358825.5	-	11	1702	c.1471G>A	c.(1471-1473)Gtg>Atg	p.V491M	PRDM10_ENST00000360871.3_Missense_Mutation_p.V491M|PRDM10_ENST00000304538.6_Missense_Mutation_p.V405M|PRDM10_ENST00000526082.1_Missense_Mutation_p.V405M|PRDM10_ENST00000528746.1_Missense_Mutation_p.V465M|PRDM10_ENST00000423662.2_Missense_Mutation_p.V405M	NM_020228.2	NP_064613.2	Q9NQV6	PRD10_HUMAN	PR domain containing 10	491					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)		GTGGGCACCACGCTCTCTTCA	0.617													27	43					0	0	1	0	0	T	129800970	C	T	129800970	3	4	81	1	0	0	0	0	1	0	0	0	12503	536	19	1	2059	1	PRDM10	11	129800970	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	12388	129800970	5205546	9214	12830											
PRDM10	56980	broad.mit.edu	37	11	129805097	129805097	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:129805097C>A	ENST00000358825.5	-	9	1287	c.1056G>T	c.(1054-1056)gaG>gaT	p.E352D	PRDM10_ENST00000360871.3_Missense_Mutation_p.E352D|PRDM10_ENST00000304538.6_Missense_Mutation_p.E266D|PRDM10_ENST00000526082.1_Missense_Mutation_p.E266D|PRDM10_ENST00000528746.1_Missense_Mutation_p.E326D|PRDM10_ENST00000423662.2_Missense_Mutation_p.E266D	NM_020228.2	NP_064613.2	Q9NQV6	PRD10_HUMAN	PR domain containing 10	352					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)		GCCAATTCTTCTCTTGCTCTC	0.428													9	101					1.08611e-07	1.27405e-07	1	1	0	A	129805097	C	A	129805097	3	1	81	1	0	0	0	0	1	0	0	0	12503	912	32	4	2482	4	PRDM10	11	129805097	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	4127	129805097	5201419	9215	12831											
PRDM10	56980	broad.mit.edu	37	11	129827806	129827806	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:129827806C>A	ENST00000358825.5	-	3	301		c.e3-1		PRDM10_ENST00000360871.3_Splice_Site|PRDM10_ENST00000528746.1_Splice_Site	NM_020228.2	NP_064613.2	Q9NQV6	PRD10_HUMAN	PR domain containing 10						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)		CAAAGTGCACCTGGCATAAAC	0.498													27	138					2.79863e-10	3.42042e-10	1	1	0	A	129827806	C	A	129827806	5	1	81	1	0	0	0	0	0	0	1	0	12503	695	24	4	3529	4	PRDM10	11	129827806	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	22709	129827806	5178710	9216	12832											
APLP2	334	broad.mit.edu	37	11	129996708	129996708	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:129996708C>T	ENST00000263574.5	+	8	1276	c.1204C>T	c.(1204-1206)Cgc>Tgc	p.R402C	APLP2_ENST00000543137.1_Missense_Mutation_p.R309C|APLP2_ENST00000345598.5_Missense_Mutation_p.R173C|APLP2_ENST00000539648.1_Missense_Mutation_p.R190C|APLP2_ENST00000528499.1_Missense_Mutation_p.R346C|APLP2_ENST00000338167.5_Missense_Mutation_p.R402C|APLP2_ENST00000278756.7_Missense_Mutation_p.R412C	NM_001642.2	NP_001633.1	Q06481	APLP2_HUMAN	amyloid beta (A4) precursor-like protein 2	402					G-protein coupled receptor protein signaling pathway	integral to membrane|nucleus|plasma membrane	DNA binding|identical protein binding|serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_hematologic(175;0.0429)	Breast(109;0.00586)|Lung NSC(97;0.00785)|all_lung(97;0.0154)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0197)|Lung(977;0.24)		GATTCGGCACCGCAACCGAAT	0.458													37	73					0	0	1	0	0	T	129996708	C	T	129996708	3	4	81	1	0	0	0	0	1	0	0	0	776	652	23	1	1234	1	APLP2	11	129996708	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	168902	129996708	5009808	9217	12833											
ST14	6768	broad.mit.edu	37	11	130060400	130060400	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:130060400C>T	ENST00000278742.5	+	7	1104	c.686C>T	c.(685-687)aCc>aTc	p.T229I		NM_021978.3	NP_068813.1	Q9Y5Y6	ST14_HUMAN	suppression of tumorigenicity 14 (colon carcinoma)	229	CUB 1.				proteolysis	integral to plasma membrane	serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|pancreas(2)|prostate(1)|skin(3)	32	all_hematologic(175;0.0429)	Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228)	Urokinase(DB00013)	ATGCGCTTCACCACGCCCGGC	0.701													7	23					0	0	1	0	0	T	130060400	C	T	130060400	3	4	81	1	0	0	0	0	1	0	0	0	15267	507	18	2	712	2	ST14	11	130060400	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	63692	130060400	4946116	9218	12834											
ST14	6768	broad.mit.edu	37	11	130068297	130068297	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:130068297C>T	ENST00000278742.5	+	13	1972	c.1554C>T	c.(1552-1554)agC>agT	p.S518S		NM_021978.3	NP_068813.1	Q9Y5Y6	ST14_HUMAN	suppression of tumorigenicity 14 (colon carcinoma)	518	LDL-receptor class A 2.				proteolysis	integral to plasma membrane	serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|pancreas(2)|prostate(1)|skin(3)	32	all_hematologic(175;0.0429)	Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228)	Urokinase(DB00013)	GAGACAACAGCGACGAGCAGG	0.662													12	48					0	0	1	0	0	T	130068297	C	T	130068297	2	4	81	1	0	0	0	0	0	0	0	1	15267	767	27	1		1	ST14	11	130068297	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	7897	130068297	4938219	9219	12835											
ST14	6768	broad.mit.edu	37	11	130078384	130078384	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:130078384C>T	ENST00000278742.5	+	17	2492	c.2074C>T	c.(2074-2076)Cgc>Tgc	p.R692C		NM_021978.3	NP_068813.1	Q9Y5Y6	ST14_HUMAN	suppression of tumorigenicity 14 (colon carcinoma)	692	Peptidase S1.				proteolysis	integral to plasma membrane	serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|pancreas(2)|prostate(1)|skin(3)	32	all_hematologic(175;0.0429)	Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228)	Urokinase(DB00013)	GGTGCAGGAGCGCAGGCTCAA	0.622													3	21					0	0	1	0	0	T	130078384	C	T	130078384	3	4	81	1	0	0	0	0	1	0	0	0	15267	768	27	1	2140	1	ST14	11	130078384	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	10087	130078384	4928132	9220	12836											
ST14	6768	broad.mit.edu	37	11	130079624	130079624	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:130079624G>A	ENST00000278742.5	+	19	2892	c.2474G>A	c.(2473-2475)aGc>aAc	p.S825N		NM_021978.3	NP_068813.1	Q9Y5Y6	ST14_HUMAN	suppression of tumorigenicity 14 (colon carcinoma)	825	Peptidase S1.				proteolysis	integral to plasma membrane	serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|pancreas(2)|prostate(1)|skin(3)	32	all_hematologic(175;0.0429)	Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228)	Urokinase(DB00013)	GGTGTGGTGAGCTGGGGAGAC	0.647													29	42					0	0	1	0	0	A	130079624	G	A	130079624	3	1	81	1	0	0	0	0	1	0	0	0	15267	971	34	2	2548	2	ST14	11	130079624	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1240	130079624	4926892	9221	12837											
ZBTB44	29068	broad.mit.edu	37	11	130131194	130131194	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:130131194G>T	ENST00000525842.1	-	2	942	c.575C>A	c.(574-576)cCt>cAt	p.P192H	ZBTB44_ENST00000530205.1_Missense_Mutation_p.P192H|ZBTB44_ENST00000397753.1_Missense_Mutation_p.P192H|ZBTB44_ENST00000357899.4_Missense_Mutation_p.P192H	NM_014155.4	NP_054874.3	Q8NCP5	ZBT44_HUMAN	zinc finger and BTB domain containing 44	192					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	15	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0192)|Lung(977;0.235)		AGGACTTTCAGGAGACATAAC	0.463													6	52					0.00198382	0.00209725	1	1	0	T	130131194	G	T	130131194	3	4	81	1	0	0	0	0	1	0	0	0	17604	1000	35	4	806	4	ZBTB44	11	130131194	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	51570	130131194	4875322	9222	12838											
ADAMTS8	11095	broad.mit.edu	37	11	130284492	130284492	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:130284492C>T	ENST00000257359.6	-	5	2206	c.1500G>A	c.(1498-1500)ccG>ccA	p.P500P		NM_007037.4	NP_008968.4	Q9UP79	ATS8_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 8	500	Disintegrin.				negative regulation of cell proliferation|proteolysis	proteinaceous extracellular matrix	heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)		CAGGCCCGCACGGCGTGCCGT	0.667													21	67					0	0	1	0	0	T	130284492	C	T	130284492	2	4	81	1	0	0	0	0	0	0	0	1	271	523	19	1		1	ADAMTS8	11	130284492	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	153298	130284492	4722024	9223	12839											
ADAMTS15	170689	broad.mit.edu	37	11	130331475	130331475	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:130331475A>G	ENST00000299164.2	+	2	1049	c.1049A>G	c.(1048-1050)gAc>gGc	p.D350G		NM_139055.2	NP_620686.1	Q8TE58	ATS15_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 15	350	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1)	36	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)		GTCATTGAGGACGATGGGCTT	0.607													31	38					0	0	1	0	0	G	130331475	A	G	130331475	3	3	81	1	0	0	0	0	1	0	0	0	259	275	10	3	1055	3	ADAMTS15	11	130331475	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	46983	130331475	4675041	9224	12840											
SNX19	399979	broad.mit.edu	37	11	130784436	130784436	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:130784436C>A	ENST00000265909.4	-	1	1968	c.1399G>T	c.(1399-1401)Gct>Tct	p.A467S	SNX19_ENST00000530356.1_Intron|SNX19_ENST00000528555.1_Intron|SNX19_ENST00000539184.1_Intron|SNX19_ENST00000533318.1_Intron|SNX19_ENST00000533214.1_Missense_Mutation_p.A467S	NM_014758.2	NP_055573	Q92543	SNX19_HUMAN	sorting nexin 19	467					cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding|protein binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(8)|ovary(3)|prostate(1)|skin(6)|urinary_tract(1)	35	all_hematologic(175;0.0597)	Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233)		TCCAGCAAAGCTGTAACAGAG	0.537													26	53					1.55811e-20	2.03554e-20	1	1	0	A	130784436	C	A	130784436	3	1	81	1	0	0	0	0	1	0	0	0	14944	797	28	4	1623	4	SNX19	11	130784436	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	452961	130784436	4222080	9225	12841											
SNX19	399979	broad.mit.edu	37	11	130784470	130784470	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:130784470C>A	ENST00000265909.4	-	1	1934	c.1365G>T	c.(1363-1365)gaG>gaT	p.E455D	SNX19_ENST00000530356.1_Intron|SNX19_ENST00000528555.1_Intron|SNX19_ENST00000539184.1_Intron|SNX19_ENST00000533318.1_Intron|SNX19_ENST00000533214.1_Missense_Mutation_p.E455D	NM_014758.2	NP_055573	Q92543	SNX19_HUMAN	sorting nexin 19	455					cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding|protein binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(8)|ovary(3)|prostate(1)|skin(6)|urinary_tract(1)	35	all_hematologic(175;0.0597)	Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233)		CTTGTTCTATCTCCTTGTCTG	0.547													7	86					1.06961e-07	1.25755e-07	1	1	0	A	130784470	C	A	130784470	3	1	81	1	0	0	0	0	1	0	0	0	14944	912	32	4	1657	4	SNX19	11	130784470	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	34	130784470	4222046	9226	12842											
SNX19	399979	broad.mit.edu	37	11	130785000	130785000	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:130785000C>T	ENST00000265909.4	-	1	1404	c.835G>A	c.(835-837)Gcc>Acc	p.A279T	SNX19_ENST00000530356.1_Intron|SNX19_ENST00000528555.1_Intron|SNX19_ENST00000539184.1_Intron|SNX19_ENST00000533318.1_Intron|SNX19_ENST00000533214.1_Missense_Mutation_p.A279T	NM_014758.2	NP_055573	Q92543	SNX19_HUMAN	sorting nexin 19	279					cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding|protein binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(8)|ovary(3)|prostate(1)|skin(6)|urinary_tract(1)	35	all_hematologic(175;0.0597)	Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233)		GGGGCACTGGCTGGGCAGGGT	0.562													61	76					0	0	1	0	0	T	130785000	C	T	130785000	3	4	81	1	0	0	0	0	1	0	0	0	14944	797	28	2	2187	2	SNX19	11	130785000	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	530	130785000	4221516	9227	12843											
SNX19	399979	broad.mit.edu	37	11	130785540	130785540	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:130785540C>A	ENST00000265909.4	-	1	864	c.295G>T	c.(295-297)Gaa>Taa	p.E99*	SNX19_ENST00000530356.1_Intron|SNX19_ENST00000528555.1_Intron|SNX19_ENST00000539184.1_Intron|SNX19_ENST00000533318.1_Intron|SNX19_ENST00000533214.1_Nonsense_Mutation_p.E99*	NM_014758.2	NP_055573	Q92543	SNX19_HUMAN	sorting nexin 19	99	PXA.				cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding|protein binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(8)|ovary(3)|prostate(1)|skin(6)|urinary_tract(1)	35	all_hematologic(175;0.0597)	Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233)		ATCTCCCGTTCCAGCTGCCTT	0.557													4	52					3.59834e-05	3.99423e-05	1	1	0	A	130785540	C	A	130785540	4	1	81	1	0	0	0	0	0	1	0	0	14944	864	30	5	2727	5	SNX19	11	130785540	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	540	130785540	4220976	9228	12844											
IGSF9B	22997	broad.mit.edu	37	11	133789708	133789708	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:133789708C>T	ENST00000321016.8	-	18	4142	c.3912G>A	c.(3910-3912)acG>acA	p.T1304T	IGSF9B_ENST00000533871.2_Silent_p.T1304T			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	1304	Pro-rich.					integral to membrane|plasma membrane				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		GAGGGGAAGGCGTCTGTCCAA	0.687													11	13					0	0	1	0	0	T	133789708	C	T	133789708	2	4	81	1	0	0	0	0	0	0	0	1	7650	755	27	1		1	IGSF9B	11	133789708	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3004168	133789708	1216808	9229	12845											
IGSF9B	22997	broad.mit.edu	37	11	133790517	133790517	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:133790517G>A	ENST00000321016.8	-	18	3333	c.3103C>T	c.(3103-3105)Cgc>Tgc	p.R1035C	IGSF9B_ENST00000533871.2_Missense_Mutation_p.R1035C			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	1035	Pro-rich.					integral to membrane|plasma membrane				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		TCAGGGGAGCGCCCTCCTGTA	0.662													36	53					0	0	1	0	0	A	133790517	G	A	133790517	3	1	81	1	0	0	0	0	1	0	0	0	7650	1087	38	1	954	1	IGSF9B	11	133790517	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	809	133790517	1215999	9230	12846											
IGSF9B	22997	broad.mit.edu	37	11	133791002	133791002	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:133791002C>T	ENST00000321016.8	-	18	2848	c.2618G>A	c.(2617-2619)cGc>cAc	p.R873H	IGSF9B_ENST00000533871.2_Missense_Mutation_p.R873H			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	873						integral to membrane|plasma membrane				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		GCCCTCGATGCGCCTGCTCTT	0.662													36	47					0	0	1	0	0	T	133791002	C	T	133791002	3	4	81	1	0	0	0	0	1	0	0	0	7650	768	27	1	1439	1	IGSF9B	11	133791002	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	485	133791002	1215514	9231	12847											
IGSF9B	22997	broad.mit.edu	37	11	133799568	133799568	+	Silent	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:133799568A>C	ENST00000321016.8	-	12	1859	c.1629T>G	c.(1627-1629)gtT>gtG	p.V543V	IGSF9B_ENST00000533871.2_Silent_p.V543V			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	543	Fibronectin type-III 1.					integral to membrane|plasma membrane				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		GTCCGTACCAAACTGAGAATG	0.622													18	28					0	0	1	0	0	C	133799568	A	C	133799568	2	2	81	1	0	0	0	0	0	0	0	1	7650	1	1	5		5	IGSF9B	11	133799568	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	8566	133799568	1206948	9232	12848											
JAM3	83700	broad.mit.edu	37	11	134009793	134009793	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:134009793G>T	ENST00000299106.4	+	2	283	c.124G>T	c.(124-126)Gtg>Ttg	p.V42L	JAM3_ENST00000524969.1_3'UTR|JAM3_ENST00000529443.2_Missense_Mutation_p.V87L|JAM3_ENST00000441717.3_Missense_Mutation_p.V42L			Q9BX67	JAM3_HUMAN	junctional adhesion molecule 3	42	Ig-like V-type.				angiogenesis|blood coagulation|regulation of neutrophil chemotaxis	cell-cell contact zone|desmosome|extracellular space|integral to membrane	integrin binding			breast(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)	10	all_hematologic(175;0.127)	all_cancers(12;1.06e-21)|all_epithelial(12;3.37e-16)|all_lung(97;7.03e-06)|Lung NSC(97;1.67e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0506)|Esophageal squamous(93;0.0566)		Epithelial(10;1.55e-09)|BRCA - Breast invasive adenocarcinoma(10;1.35e-08)|all cancers(11;2.81e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00402)|Lung(977;0.245)		TCGAACCCCAGTGGTACAGGA	0.438											OREG0021547	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	18	29					3.51602e-12	4.38715e-12	1	1	0	T	134009793	G	T	134009793	3	4	81	1	0	0	0	0	1	0	0	0	7988	1029	36	4	265	4	JAM3	11	134009793	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	210225	134009793	996723	9233	12849											
JAM3	83700	broad.mit.edu	37	11	134018710	134018710	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:134018710G>T	ENST00000299106.4	+	8	1053	c.894G>T	c.(892-894)gaG>gaT	p.E298D	JAM3_ENST00000529443.2_Missense_Mutation_p.E343D|JAM3_ENST00000441717.3_Missense_Mutation_p.E247D			Q9BX67	JAM3_HUMAN	junctional adhesion molecule 3	298					angiogenesis|blood coagulation|regulation of neutrophil chemotaxis	cell-cell contact zone|desmosome|extracellular space|integral to membrane	integrin binding			breast(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)	10	all_hematologic(175;0.127)	all_cancers(12;1.06e-21)|all_epithelial(12;3.37e-16)|all_lung(97;7.03e-06)|Lung NSC(97;1.67e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0506)|Esophageal squamous(93;0.0566)		Epithelial(10;1.55e-09)|BRCA - Breast invasive adenocarcinoma(10;1.35e-08)|all cancers(11;2.81e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00402)|Lung(977;0.245)		GCACTGACGAGGAGGTAATCA	0.463													5	53					0.184627	0.18622	1	1	0	T	134018710	G	T	134018710	3	4	81	1	0	0	0	0	1	0	0	0	7988	991	35	4	1059	4	JAM3	11	134018710	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	8917	134018710	987806	9234	12850											
NCAPD3	23310	broad.mit.edu	37	11	134023044	134023044	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:134023044G>T	ENST00000534548.2	-	34	4443	c.4379C>A	c.(4378-4380)cCt>cAt	p.P1460H	NCAPD3_ENST00000526787.2_Intron	NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	1460					cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		CGGTTTATCAGGCAGTGATAA	0.433													15	160					3.27435e-08	3.88014e-08	1	1	0	T	134023044	G	T	134023044	3	4	81	1	0	0	0	0	1	0	0	0	10253	1000	35	4	125	4	NCAPD3	11	134023044	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	4334	134023044	983472	9235	12851											
NCAPD3	23310	broad.mit.edu	37	11	134063963	134063963	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:134063963G>T	ENST00000534548.2	-	15	1836	c.1772C>A	c.(1771-1773)cCt>cAt	p.P591H		NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	591					cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		AGACACTGCAGGGTCCCGACA	0.458													4	60					0.00116845	0.00124301	1	1	0	T	134063963	G	T	134063963	3	4	81	1	0	0	0	0	1	0	0	0	10253	1000	35	4	2808	4	NCAPD3	11	134063963	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	40919	134063963	942553	9236	12852											
ACAD8	27034	broad.mit.edu	37	11	134130998	134130998	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:134130998G>A	ENST00000281182.4	+	7	872	c.766G>A	c.(766-768)Gcc>Acc	p.A256T	ACAD8_ENST00000537423.1_Missense_Mutation_p.A179T|ACAD8_ENST00000374752.4_Missense_Mutation_p.A129T|ACAD8_ENST00000543332.1_Missense_Mutation_p.A158T|ACAD8_ENST00000524547.1_3'UTR	NM_014384.2	NP_055199.1	Q9UKU7	ACAD8_HUMAN	acyl-CoA dehydrogenase family, member 8	256					branched chain family amino acid catabolic process|lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial matrix	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding			endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	14	all_hematologic(175;0.127)	all_cancers(12;8e-23)|all_epithelial(12;2.59e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|all_neural(223;0.0189)|Medulloblastoma(222;0.0245)|Esophageal squamous(93;0.0559)		Epithelial(10;1.92e-10)|all cancers(11;2.26e-09)|BRCA - Breast invasive adenocarcinoma(10;8.73e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00154)|Lung(977;0.21)		TGTCCCTGTGGCCAACAGAAT	0.572													11	15					0	0	1	0	0	A	134130998	G	A	134130998	3	1	81	1	0	0	0	0	1	0	0	0	110	1203	42	2	792	2	ACAD8	11	134130998	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	67035	134130998	875518	9237	12853											
GLB1L3	112937	broad.mit.edu	37	11	134179596	134179596	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:134179596C>T	ENST00000431683.2	+	11	1038	c.1038C>T	c.(1036-1038)aaC>aaT	p.N346N		NM_001080407.2	NP_001073876.2	Q8NCI6	GLBL3_HUMAN	galactosidase, beta 1-like 3	346					carbohydrate metabolic process		cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)	13	all_hematologic(175;0.127)	all_cancers(12;5.52e-23)|all_epithelial(12;2.15e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|all_neural(223;0.0182)|Medulloblastoma(222;0.0208)|Esophageal squamous(93;0.0559)		Epithelial(10;1.3e-11)|all cancers(11;2.07e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000873)|Lung(977;0.222)		GTGGAACCAACTTTGGTTTCA	0.478													5	10					0	0	1	0	0	T	134179596	C	T	134179596	2	4	81	1	0	0	0	0	0	0	0	1	6472	564	20	2		2	GLB1L3	11	134179596	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	48598	134179596	826920	9238	12854											
GLB1L2	89944	broad.mit.edu	37	11	134212785	134212785	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:134212785G>T	ENST00000535456.2	+	2	412	c.224G>T	c.(223-225)aGg>aTg	p.R75M	GLB1L2_ENST00000389881.3_Missense_Mutation_p.R75M|GLB1L2_ENST00000339772.7_Missense_Mutation_p.R75M	NM_138342.3	NP_612351.2	Q8IW92	GLBL2_HUMAN	galactosidase, beta 1-like 2	75					carbohydrate metabolic process	extracellular region	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41	all_hematologic(175;0.127)	all_cancers(12;2.85e-18)|all_epithelial(12;1.21e-12)|all_lung(97;0.000276)|Lung NSC(97;0.000518)|Breast(109;0.00122)|Medulloblastoma(222;0.0399)|all_neural(223;0.0412)|Esophageal squamous(93;0.0844)		Epithelial(10;1.37e-11)|all cancers(11;2.2e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000885)|Lung(977;0.223)		CGTGTGCCCAGGGAGTACTGG	0.612													5	73					0.184627	0.18622	1	1	0	T	134212785	G	T	134212785	3	4	81	1	0	0	0	0	1	0	0	0	6471	1000	35	4	230	4	GLB1L2	11	134212785	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	33189	134212785	793731	9239	12855											
GLB1L2	89944	broad.mit.edu	37	11	134239698	134239698	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:134239698G>T	ENST00000535456.2	+	11	1215		c.e11-1		GLB1L2_ENST00000529077.1_Splice_Site|GLB1L2_ENST00000339772.7_Splice_Site|GLB1L2_ENST00000389881.3_Splice_Site	NM_138342.3	NP_612351.2	Q8IW92	GLBL2_HUMAN	galactosidase, beta 1-like 2						carbohydrate metabolic process	extracellular region	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41	all_hematologic(175;0.127)	all_cancers(12;2.85e-18)|all_epithelial(12;1.21e-12)|all_lung(97;0.000276)|Lung NSC(97;0.000518)|Breast(109;0.00122)|Medulloblastoma(222;0.0399)|all_neural(223;0.0412)|Esophageal squamous(93;0.0844)		Epithelial(10;1.37e-11)|all cancers(11;2.2e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000885)|Lung(977;0.223)		GTGTCTTGCAGACTATGATGC	0.547													66	58					5.61366e-43	7.54372e-43	1	1	0	T	134239698	G	T	134239698	5	4	81	1	0	0	0	0	0	0	1	0	6471	956	33	4	1069	4	GLB1L2	11	134239698	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	26913	134239698	766818	9240	12856	58	2									
GLB1L2	89944	broad.mit.edu	37	11	134239705	134239705	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:134239705A>C	ENST00000535456.2	+	11	1222	c.1034A>C	c.(1033-1035)gAt>gCt	p.D345A	GLB1L2_ENST00000529077.1_3'UTR|GLB1L2_ENST00000339772.7_Missense_Mutation_p.D345A|GLB1L2_ENST00000389881.3_Missense_Mutation_p.D345A	NM_138342.3	NP_612351.2	Q8IW92	GLBL2_HUMAN	galactosidase, beta 1-like 2	345					carbohydrate metabolic process	extracellular region	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41	all_hematologic(175;0.127)	all_cancers(12;2.85e-18)|all_epithelial(12;1.21e-12)|all_lung(97;0.000276)|Lung NSC(97;0.000518)|Breast(109;0.00122)|Medulloblastoma(222;0.0399)|all_neural(223;0.0412)|Esophageal squamous(93;0.0844)		Epithelial(10;1.37e-11)|all cancers(11;2.2e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000885)|Lung(977;0.223)		GCAGACTATGATGCTGTGCTG	0.552													12	118					0	0	1	0	0	C	134239705	A	C	134239705	3	2	81	1	0	0	0	0	1	0	0	0	6471	333	12	4	1076	4	GLB1L2	11	134239705	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	7	134239705	766811	9241	12857	58	2									
IQSEC3	440073	broad.mit.edu	37	12	247931	247931	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:247931G>A	ENST00000538872.1	+	4	1520	c.1402G>A	c.(1402-1404)Gcg>Acg	p.A468T	RP11-598F7.4_ENST00000505893.2_RNA|IQSEC3_ENST00000382841.2_Missense_Mutation_p.A165T|IQSEC3_ENST00000326261.4_Missense_Mutation_p.A468T			Q9UPP2	IQEC3_HUMAN	IQ motif and Sec7 domain 3	468					regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)		ggATGACGCCGCGGAGACCCC	0.761													3	6					0	0	1	0	0	A	247931	G	A	247931	3	1	81	1	0	0	0	0	1	0	0	0	7863	1087	38	1	1416	1	IQSEC3	12	247931	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08		247931	133603964	9242	12858											
IQSEC3	440073	broad.mit.edu	37	12	266718	266718	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:266718C>T	ENST00000538872.1	+	7	2419	c.2301C>T	c.(2299-2301)ccC>ccT	p.P767P	IQSEC3_ENST00000382841.2_Silent_p.P464P|IQSEC3_ENST00000326261.4_Silent_p.P767P			Q9UPP2	IQEC3_HUMAN	IQ motif and Sec7 domain 3	767	SEC7.				regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)		TGTGCAACCCCGAAGTGGTTC	0.627													21	36					0	0	1	0	0	T	266718	C	T	266718	2	4	81	1	0	0	0	0	0	0	0	1	7863	639	23	1		1	IQSEC3	12	266718	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	18787	266718	133585177	9243	12859											
IQSEC3	440073	broad.mit.edu	37	12	266833	266833	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:266833C>T	ENST00000538872.1	+	7	2534	c.2416C>T	c.(2416-2418)Ctg>Ttg	p.L806L	IQSEC3_ENST00000382841.2_Silent_p.L503L|IQSEC3_ENST00000326261.4_Silent_p.L806L			Q9UPP2	IQEC3_HUMAN	IQ motif and Sec7 domain 3	806	SEC7.				regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)		GAAGATGATGCTGGAGGACTT	0.592													6	59					0	0	1	0	0	T	266833	C	T	266833	2	4	81	1	0	0	0	0	0	0	0	1	7863	796	28	2		2	IQSEC3	12	266833	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	115	266833	133585062	9244	12860											
IQSEC3	440073	broad.mit.edu	37	12	272684	272684	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:272684C>A	ENST00000538872.1	+	9	2726	c.2608C>A	c.(2608-2610)Ctg>Atg	p.L870M	IQSEC3_ENST00000382841.2_Missense_Mutation_p.L567M|IQSEC3_ENST00000326261.4_Missense_Mutation_p.L870M			Q9UPP2	IQEC3_HUMAN	IQ motif and Sec7 domain 3	870	PH.				regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)		CCACCGCCGCCTGGTGTGCTG	0.657													29	36					4.43304e-23	5.83472e-23	1	1	0	A	272684	C	A	272684	3	1	81	1	0	0	0	0	1	0	0	0	7863	680	24	4	2642	4	IQSEC3	12	272684	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	5851	272684	133579211	9245	12861											
SLC6A12	6539	broad.mit.edu	37	12	301737	301737	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:301737G>A	ENST00000428720.1	-	15	2351	c.1608C>T	c.(1606-1608)taC>taT	p.Y536Y	SLC6A12_ENST00000359674.4_Silent_p.Y536Y|SLC6A12_ENST00000536824.1_Silent_p.Y536Y|SLC6A12_ENST00000424061.2_Silent_p.Y536Y|SLC6A12_ENST00000397296.2_Silent_p.Y536Y	NM_001122848.2	NP_001116320.1	P48065	S6A12_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 12	536					cellular nitrogen compound metabolic process|neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0172)|all_epithelial(11;0.0283)|all_lung(10;0.0392)|Lung NSC(10;0.0567)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00227)			AGCCAATGGAGTATCCCCAGG	0.567													23	44					0	0	1	0	0	A	301737	G	A	301737	2	1	81	1	0	0	0	0	0	0	0	1	14730	1024	36	2		2	SLC6A12	12	301737	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	29053	301737	133550158	9246	12862											
SLC6A12	6539	broad.mit.edu	37	12	306028	306028	+	Missense_Mutation	SNP	C	C	T	rs151111165	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:306028C>T	ENST00000428720.1	-	11	1839	c.1096G>A	c.(1096-1098)Gcc>Acc	p.A366T	SLC6A12_ENST00000359674.4_Missense_Mutation_p.A366T|SLC6A12_ENST00000536824.1_Missense_Mutation_p.A366T|SLC6A12_ENST00000424061.2_Missense_Mutation_p.A366T|SLC6A12_ENST00000397296.2_Missense_Mutation_p.A366T	NM_001122848.2	NP_001116320.1	P48065	S6A12_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 12	366					cellular nitrogen compound metabolic process|neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0172)|all_epithelial(11;0.0283)|all_lung(10;0.0392)|Lung NSC(10;0.0567)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00227)			TTGGGGAAGGCGATGAAGGCC	0.582													7	42					0	0	1	0	0	T	306028	C	T	306028	3	4	81	1	0	0	0	0	1	0	0	0	14730	768	27	1	772	1	SLC6A12	12	306028	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	4291	306028	133545867	9247	12863											
SLC6A12	6539	broad.mit.edu	37	12	318999	318999	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:318999C>A	ENST00000428720.1	-	3	897	c.154G>T	c.(154-156)Gag>Tag	p.E52*	SLC6A12_ENST00000359674.4_Nonsense_Mutation_p.E52*|SLC6A12_ENST00000536824.1_Nonsense_Mutation_p.E52*|SLC6A12_ENST00000424061.2_Nonsense_Mutation_p.E52*|SLC6A12_ENST00000397296.2_Nonsense_Mutation_p.E52*	NM_001122848.2	NP_001116320.1	P48065	S6A12_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 12	52					cellular nitrogen compound metabolic process|neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0172)|all_epithelial(11;0.0283)|all_lung(10;0.0392)|Lung NSC(10;0.0567)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00227)			CCAATGATCTCCCCGGCCACT	0.562													32	73					3.11337e-16	3.99083e-16	1	1	0	A	318999	C	A	318999	4	1	81	1	0	0	0	0	0	1	0	0	14730	864	30	5	1746	5	SLC6A12	12	318999	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	12971	318999	133532896	9248	12864											
KDM5A	5927	broad.mit.edu	37	12	459813	459813	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:459813G>A	ENST00000399788.2	-	10	1644	c.1282C>T	c.(1282-1284)Cgg>Tgg	p.R428W	KDM5A_ENST00000382815.4_Missense_Mutation_p.R428W	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN	lysine (K)-specific demethylase 5A	428					chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						ATCTTTCTCCGCCCATCCTTC	0.428			T	NUP98	AML								23	49					0	0	1	0	0	A	459813	G	A	459813	3	1	81	1	0	0	0	0	1	0	0	0	8176	1086	38	1	3866	1	KDM5A	12	459813	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	140814	459813	133392082	9249	12865											
KDM5A	5927	broad.mit.edu	37	12	464374	464374	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:464374C>T	ENST00000399788.2	-	7	1182	c.820G>A	c.(820-822)Gca>Aca	p.A274T	KDM5A_ENST00000382815.4_Missense_Mutation_p.A274T	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN	lysine (K)-specific demethylase 5A	274					chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						ATGTTAAATGCGTCTGACCTG	0.373			T	NUP98	AML								25	50					0	0	1	0	0	T	464374	C	T	464374	3	4	81	1	0	0	0	0	1	0	0	0	8176	768	27	1	4340	1	KDM5A	12	464374	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	4561	464374	133387521	9250	12866											
B4GALNT3	283358	broad.mit.edu	37	12	665976	665976	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:665976G>A	ENST00000266383.5	+	15	2337	c.2324G>A	c.(2323-2325)tGc>tAc	p.C775Y		NM_173593.3	NP_775864.3	Q6L9W6	B4GN3_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 3	775						Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)			CCCAAGCTGTGCTGGCCTCAG	0.652													10	17					0	0	1	0	0	A	665976	G	A	665976	3	1	81	1	0	0	0	0	1	0	0	0	1266	1319	46	2	2382	2	B4GALNT3	12	665976	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	201602	665976	133185919	9251	12867											
B4GALNT3	283358	broad.mit.edu	37	12	667216	667216	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:667216C>T	ENST00000266383.5	+	17	2582	c.2569C>T	c.(2569-2571)Cgc>Tgc	p.R857C		NM_173593.3	NP_775864.3	Q6L9W6	B4GN3_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 3	857						Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)			AAACTTTGAACGCTCAGCTGG	0.557													12	36					0	0	1	0	0	T	667216	C	T	667216	3	4	81	1	0	0	0	0	1	0	0	0	1266	536	19	1	2635	1	B4GALNT3	12	667216	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1240	667216	133184679	9252	12868											
B4GALNT3	283358	broad.mit.edu	37	12	668483	668483	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:668483C>T	ENST00000266383.5	+	19	2797	c.2784C>T	c.(2782-2784)ttC>ttT	p.F928F		NM_173593.3	NP_775864.3	Q6L9W6	B4GN3_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 3	928						Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)			TGAATGGGTTCGGGCTGCTTG	0.612													28	52					0	0	1	0	0	T	668483	C	T	668483	2	4	81	1	0	0	0	0	0	0	0	1	1266	883	31	1		1	B4GALNT3	12	668483	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1267	668483	133183412	9253	12869											
WNK1	65125	broad.mit.edu	37	12	960934	960934	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:960934G>A	ENST00000340908.4	+	1	76	c.76G>A	c.(76-78)Gat>Aat	p.D26N	WNK1_ENST00000315939.6_Intron|WNK1_ENST00000530271.2_Intron|WNK1_ENST00000540360.1_Intron|WNK1_ENST00000537687.1_Intron|WNK1_ENST00000535572.1_Intron			Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	0					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			CCCTCAAAAGGATTGTATAAA	0.308													7	12					0	0	1	0	0	A	960934	G	A	960934	3	1	81	1	0	0	0	0	1	0	0	0	17437	1189	41	2		2	WNK1	12	960934	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	292451	960934	132890961	9254	12870											
ERC1	23085	broad.mit.edu	37	12	1291148	1291148	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:1291148G>T	ENST00000397203.2	+	10	2339	c.1933G>T	c.(1933-1935)Gag>Tag	p.E645*	ERC1_ENST00000543086.3_Nonsense_Mutation_p.E617*|ERC1_ENST00000546231.2_Nonsense_Mutation_p.E645*|ERC1_ENST00000360905.4_Nonsense_Mutation_p.E645*|ERC1_ENST00000536573.2_3'UTR|ERC1_ENST00000589028.1_Nonsense_Mutation_p.E645*|ERC1_ENST00000355446.5_Nonsense_Mutation_p.E645*			Q8IUD2	RB6I2_HUMAN	ELKS/RAB6-interacting/CAST family member 1	645					I-kappaB phosphorylation|multicellular organismal development|positive regulation of anti-apoptosis|positive regulation of NF-kappaB transcription factor activity|protein transport	Golgi membrane|IkappaB kinase complex|presynaptic membrane	leucine zipper domain binding			NS(1)|breast(2)|cervix(2)|endometrium(2)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_epithelial(11;0.0698)|Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567)			AGAGAAGCAAGAGGAAATTGA	0.413													8	33					0.000157383	0.000171784	1	1	0	T	1291148	G	T	1291148	4	4	81	1	0	0	0	0	0	1	0	0	5238	943	33	4	1967	4	ERC1	12	1291148	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	330214	1291148	132560747	9255	12871											
WNT5B	81029	broad.mit.edu	37	12	1755144	1755144	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:1755144G>A	ENST00000397196.2	+	5	1038	c.806G>A	c.(805-807)cGc>cAc	p.R269H	WNT5B_ENST00000310594.3_Missense_Mutation_p.R269H|WNT5B_ENST00000537031.1_Missense_Mutation_p.R269H|WNT5B_ENST00000545747.1_3'UTR	NM_032642.2	NP_116031.1	Q9H1J7	WNT5B_HUMAN	wingless-type MMTV integration site family, member 5B	269					angiogenesis|anterior/posterior pattern formation|cell migration involved in gastrulation|cellular response to retinoic acid|chondrocyte differentiation|convergent extension involved in axis elongation|convergent extension involved in gastrulation|dorsal/ventral axis specification|endocrine pancreas development|fat cell differentiation|lens fiber cell development|negative regulation of canonical Wnt receptor signaling pathway|neuron differentiation|positive regulation of cell migration|positive regulation of fat cell differentiation|respiratory system development|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled-2 binding			skin(1)	1	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00109)			GTCAACAGCCGCTTCACCCAG	0.706													8	15					0	0	1	0	0	A	1755144	G	A	1755144	3	1	81	1	0	0	0	0	1	0	0	0	17452	1087	38	1	820	1	WNT5B	12	1755144	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	463996	1755144	132096751	9256	12872											
ADIPOR2	79602	broad.mit.edu	37	12	1863574	1863574	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:1863574G>T	ENST00000357103.4	+	2	316	c.65G>T	c.(64-66)aGa>aTa	p.R22I		NM_024551.2	NP_078827.2	Q86V24	ADR2_HUMAN	adiponectin receptor 2	22					fatty acid oxidation|hormone-mediated signaling pathway	integral to membrane	hormone binding|receptor activity			endometrium(1)|large_intestine(3)|lung(7)|stomach(1)	12	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.000382)			ATAAGGCTCAGAAAAGGGCAC	0.473													6	64					0.00116845	0.00124301	1	1	0	T	1863574	G	T	1863574	3	4	81	1	0	0	0	0	1	0	0	0	318	942	33	4	67	4	ADIPOR2	12	1863574	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	108430	1863574	131988321	9257	12873											
ADIPOR2	79602	broad.mit.edu	37	12	1887032	1887032	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:1887032C>T	ENST00000357103.4	+	4	555	c.304C>T	c.(304-306)Cgg>Tgg	p.R102W	ADIPOR2_ENST00000544470.1_3'UTR	NM_024551.2	NP_078827.2	Q86V24	ADR2_HUMAN	adiponectin receptor 2	102					fatty acid oxidation|hormone-mediated signaling pathway	integral to membrane	hormone binding|receptor activity			endometrium(1)|large_intestine(3)|lung(7)|stomach(1)	12	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.000382)			ATGGGAAGGTCGGTGGCGAGT	0.478													16	36					0	0	1	0	0	T	1887032	C	T	1887032	3	4	81	1	0	0	0	0	1	0	0	0	318	875	31	1	314	1	ADIPOR2	12	1887032	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	23458	1887032	131964863	9258	12874											
ADIPOR2	79602	broad.mit.edu	37	12	1889674	1889674	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:1889674T>A	ENST00000357103.4	+	5	772	c.521T>A	c.(520-522)tTt>tAt	p.F174Y		NM_024551.2	NP_078827.2	Q86V24	ADR2_HUMAN	adiponectin receptor 2	174					fatty acid oxidation|hormone-mediated signaling pathway	integral to membrane	hormone binding|receptor activity			endometrium(1)|large_intestine(3)|lung(7)|stomach(1)	12	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.000382)			AATATCTCCTTTGTGGCCCCT	0.418													13	185					0	0	1	0	0	A	1889674	T	A	1889674	3	1	81	1	0	0	0	0	1	0	0	0	318	1841	64	5	535	5	ADIPOR2	12	1889674	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	2642	1889674	131962221	9259	12875											
CACNA2D4	93589	broad.mit.edu	37	12	1909168	1909168	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:1909168T>C	ENST00000382722.5	-	33	3334	c.2972A>G	c.(2971-2973)gAg>gGg	p.E991G	CACNA2D4_ENST00000538450.1_Missense_Mutation_p.E121G|CACNA2D4_ENST00000586184.1_Missense_Mutation_p.E991G|CACNA2D4_ENST00000585708.1_Missense_Mutation_p.E927G|CACNA2D4_ENST00000538027.2_Missense_Mutation_p.E136G|CACNA2D4_ENST00000588077.1_Missense_Mutation_p.E927G|CACNA2D4_ENST00000587995.1_Missense_Mutation_p.E966G	NM_172364.4	NP_758952.4	Q7Z3S7	CA2D4_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 4	991						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		GCACTCACCCTCGGCCCCTCT	0.602													5	6					0	0	1	0	0	C	1909168	T	C	1909168	3	2	81	1	0	0	0	0	1	0	0	0	2569	1551	54	3	465	3	CACNA2D4	12	1909168	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	19494	1909168	131942727	9260	12876											
CACNA1C	775	broad.mit.edu	37	12	2656628	2656628	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:2656628C>T	ENST00000335762.5	+	10	1668	c.1403C>T	c.(1402-1404)gCg>gTg	p.A468V	CACNA1C_ENST00000399638.1_Intron|CACNA1C_ENST00000399621.1_Intron|CACNA1C_ENST00000327702.7_Intron|CACNA1C_ENST00000399603.1_Intron|CACNA1C_ENST00000347598.4_Intron|CACNA1C_ENST00000399637.1_Intron|CACNA1C_ENST00000399634.1_Intron|CACNA1C_ENST00000402845.3_Intron|CACNA1C_ENST00000399641.1_Intron|CACNA1C_ENST00000480911.1_Intron|CACNA1C_ENST00000399629.1_Intron|CACNA1C_ENST00000399617.1_Intron|CACNA1C_ENST00000344100.3_Intron|CACNA1C_ENST00000491104.1_Intron|CACNA1C_ENST00000399649.1_Intron|CACNA1C_ENST00000399601.1_Intron|CACNA1C_ENST00000406454.3_Intron|CACNA1C_ENST00000399595.1_Intron|CACNA1C_ENST00000399655.1_Intron|CACNA1C_ENST00000399606.1_Intron|CACNA1C_ENST00000399644.1_Intron|CACNA1C_ENST00000399597.1_Intron|CACNA1C_ENST00000399591.1_Intron			Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	463					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	GGCACTCCGGCGGGCATGCTT	0.493													12	16					0	0	1	0	0	T	2656628	C	T	2656628	3	4	81	1	0	0	0	0	1	0	0	0	2558	783	27	1		1	CACNA1C	12	2656628	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	747460	2656628	131195267	9261	12877											
CACNA1C	775	broad.mit.edu	37	12	2774794	2774794	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:2774794G>A	ENST00000399655.1	+	36	4711	c.4446G>A	c.(4444-4446)ctG>ctA	p.L1482L	CACNA1C_ENST00000399638.1_Silent_p.L1510L|CACNA1C_ENST00000399621.1_Silent_p.L1482L|CACNA1C_ENST00000327702.7_Silent_p.L1482L|CACNA1C_ENST00000399603.1_Silent_p.L1482L|CACNA1C_ENST00000335762.5_Silent_p.L1507L|CACNA1C_ENST00000347598.4_Silent_p.L1530L|CACNA1C_ENST00000399637.1_Silent_p.L1482L|CACNA1C_ENST00000399634.1_Silent_p.L1482L|CACNA1C_ENST00000402845.3_Silent_p.L1482L|CACNA1C_ENST00000399641.1_Silent_p.L1482L|CACNA1C_ENST00000399629.1_Silent_p.L1499L|CACNA1C_ENST00000399617.1_Silent_p.L1482L|CACNA1C_ENST00000344100.3_Silent_p.L1504L|CACNA1C_ENST00000399649.1_Silent_p.L1469L|CACNA1C_ENST00000399601.1_Silent_p.L1482L|CACNA1C_ENST00000406454.3_Silent_p.L1482L|CACNA1C_ENST00000399595.1_Silent_p.L1471L|CACNA1C_ENST00000399606.1_Silent_p.L1502L|CACNA1C_ENST00000399644.1_Silent_p.L1482L|CACNA1C_ENST00000399597.1_Silent_p.L1482L|CACNA1C_ENST00000399591.1_Silent_p.L1471L	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	1530	Dihydropyridine binding (By similarity).				axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	TTGACTACCTGACAAGGGACT	0.488													17	27					0	0	1	0	0	A	2774794	G	A	2774794	2	1	81	1	0	0	0	0	0	0	0	1	2558	1277	45	2		2	CACNA1C	12	2774794	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	118166	2774794	131077101	9262	12878											
FKBP4	2288	broad.mit.edu	37	12	2910319	2910319	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:2910319T>C	ENST00000001008.4	+	9	1256	c.1069T>C	c.(1069-1071)Ttc>Ctc	p.F357L	RP4-816N1.6_ENST00000547834.1_RNA|RP4-816N1.7_ENST00000547042.1_RNA	NM_002014.3	NP_002005.1	Q02790	FKBP4_HUMAN	FK506 binding protein 4, 59kDa	357	Interaction with tubulin (By similarity).				negative regulation of microtubule polymerization or depolymerization|negative regulation of neuron projection development|protein folding	axonal growth cone|cytosol|membrane|microtubule|nucleus	FK506 binding|heat shock protein binding|peptidyl-prolyl cis-trans isomerase activity|protein binding, bridging			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(1)	14			OV - Ovarian serous cystadenocarcinoma(31;0.00105)		Dimethyl sulfoxide(DB01093)	GAAGGGCCTCTTCCGCCGGGG	0.567													8	64					0	0	1	0	0	C	2910319	T	C	2910319	3	2	81	1	0	0	0	0	1	0	0	0	5943	1609	56	3	1103	3	FKBP4	12	2910319	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	135525	2910319	130941576	9263	12879											
ITFG2	55846	broad.mit.edu	37	12	2930857	2930857	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:2930857G>T	ENST00000228799.2	+	9	986		c.e9-1		ITFG2_ENST00000542548.1_Splice_Site|ITFG2_ENST00000419778.2_Splice_Site	NM_018463.3	NP_060933.3	Q969R8	ITFG2_HUMAN	integrin alpha FG-GAP repeat containing 2											central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(13)|upper_aerodigestive_tract(2)	19			OV - Ovarian serous cystadenocarcinoma(31;0.000818)			TCCCCCGGCAGGGACACTGAA	0.582													33	45					5.91797e-21	7.7397e-21	1	1	0	T	2930857	G	T	2930857	5	4	81	1	0	0	0	0	0	0	1	0	7914	1014	35	4	881	4	ITFG2	12	2930857	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	20538	2930857	130921038	9264	12880											
ITFG2	55846	broad.mit.edu	37	12	2931989	2931989	+	Silent	SNP	C	C	T	rs61744187	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:2931989C>T	ENST00000228799.2	+	10	1117	c.978C>T	c.(976-978)tgC>tgT	p.C326C	ITFG2_ENST00000542548.1_Silent_p.C214C|ITFG2_ENST00000419778.2_Silent_p.C149C	NM_018463.3	NP_060933.3	Q969R8	ITFG2_HUMAN	integrin alpha FG-GAP repeat containing 2	326										central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(13)|upper_aerodigestive_tract(2)	19			OV - Ovarian serous cystadenocarcinoma(31;0.000818)			TAGTTGCATGCGCCTGGGATG	0.522													16	39					0	0	1	0	0	T	2931989	C	T	2931989	2	4	81	1	0	0	0	0	0	0	0	1	7914	776	27	1		1	ITFG2	12	2931989	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1132	2931989	130919906	9265	12881											
ITFG2	55846	broad.mit.edu	37	12	2933326	2933326	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:2933326G>A	ENST00000228799.2	+	12	1450	c.1311G>A	c.(1309-1311)caG>caA	p.Q437Q	ITFG2_ENST00000542548.1_Silent_p.Q325Q|ITFG2_ENST00000419778.2_Silent_p.Q260Q	NM_018463.3	NP_060933.3	Q969R8	ITFG2_HUMAN	integrin alpha FG-GAP repeat containing 2	437										central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(13)|upper_aerodigestive_tract(2)	19			OV - Ovarian serous cystadenocarcinoma(31;0.000818)			AGCCACCACAGTGTGCTCCCT	0.567													4	45					0	0	1	0	0	A	2933326	G	A	2933326	2	1	81	1	0	0	0	0	0	0	0	1	7914	1020	36	2		2	ITFG2	12	2933326	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1337	2933326	130918569	9266	12882											
FOXM1	2305	broad.mit.edu	37	12	2977736	2977736	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:2977736C>T	ENST00000342628.2	-	4	952	c.839G>A	c.(838-840)gGc>gAc	p.G280D	FOXM1_ENST00000537018.1_5'UTR|FOXM1_ENST00000359843.3_Missense_Mutation_p.G280D|FOXM1_ENST00000361953.3_Missense_Mutation_p.G280D	NM_202002.2	NP_973731.1	Q08050	FOXM1_HUMAN	forkhead box M1	280					cell cycle|embryo development|liver development|negative regulation of cell aging|negative regulation of stress-activated MAPK cascade|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|positive regulation of cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of cell growth|regulation of cell proliferation|regulation of oxygen and reactive oxygen species metabolic process|regulation of Ras protein signal transduction|regulation of reactive oxygen species metabolic process|regulation of sequence-specific DNA binding transcription factor activity|tissue development|transcription from RNA polymerase II promoter|vasculogenesis	cytoplasm|transcription factor complex	DNA bending activity|DNA binding|double-stranded DNA binding|promoter binding|protein binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|transcription factor binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(3)	24			OV - Ovarian serous cystadenocarcinoma(31;0.000622)			TACCTTCCAGCCTGGCTTGGC	0.488													8	99					0	0	1	0	0	T	2977736	C	T	2977736	3	4	81	1	0	0	0	0	1	0	0	0	6052	739	26	2	1594	2	FOXM1	12	2977736	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	44410	2977736	130874159	9267	12883											
TULP3	7289	broad.mit.edu	37	12	3039511	3039511	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:3039511C>T	ENST00000448120.2	+	5	543	c.492C>T	c.(490-492)acC>acT	p.T164T	TULP3_ENST00000397132.2_Splice_Site_p.T164T	NM_003324.4	NP_003315.2	O75386	TULP3_HUMAN	tubby like protein 3	164					G-protein coupled receptor protein signaling pathway|regulation of transcription, DNA-dependent	cytoplasm|extracellular region|nucleus|plasma membrane	phosphatidylinositol-4,5-bisphosphate binding			endometrium(1)|large_intestine(4)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22			OV - Ovarian serous cystadenocarcinoma(31;0.000818)			AGAATTCAACCGTATGTAGTT	0.333													6	20					0	0	1	0	0	T	3039511	C	T	3039511	5	4	81	1	0	0	0	0	0	0	1	0	16837	666	23	1	510	1	TULP3	12	3039511	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	61775	3039511	130812384	9268	12884											
TULP3	7289	broad.mit.edu	37	12	3047393	3047393	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:3047393C>T	ENST00000448120.2	+	10	1188	c.1137C>T	c.(1135-1137)ttC>ttT	p.F379F	TULP3_ENST00000397132.2_Silent_p.F379F	NM_003324.4	NP_003315.2	O75386	TULP3_HUMAN	tubby like protein 3	379					G-protein coupled receptor protein signaling pathway|regulation of transcription, DNA-dependent	cytoplasm|extracellular region|nucleus|plasma membrane	phosphatidylinositol-4,5-bisphosphate binding			endometrium(1)|large_intestine(4)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22			OV - Ovarian serous cystadenocarcinoma(31;0.000818)			TCCTCAACTTCCGTGGCCGGG	0.532													27	38					0	0	1	0	0	T	3047393	C	T	3047393	2	4	81	1	0	0	0	0	0	0	0	1	16837	854	30	2		2	TULP3	12	3047393	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	7882	3047393	130804502	9269	12885											
TEAD4	7004	broad.mit.edu	37	12	3128322	3128322	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:3128322C>T	ENST00000359864.2	+	8	759	c.569C>T	c.(568-570)cCg>cTg	p.P190L	TEAD4_ENST00000358409.2_Missense_Mutation_p.P147L|TEAD4_ENST00000397122.2_Missense_Mutation_p.P61L	NM_003213.3	NP_003204	Q15561	TEAD4_HUMAN	TEA domain family member 4	190					hippo signaling cascade|muscle organ development|skeletal system development		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10	Ovarian(42;0.211)		OV - Ovarian serous cystadenocarcinoma(31;0.000563)|COAD - Colon adenocarcinoma(12;0.0831)			GTCCAGCCTCCGCTGCCTCTG	0.682													25	49					0	0	1	0	0	T	3128322	C	T	3128322	3	4	81	1	0	0	0	0	1	0	0	0	15800	652	23	1	591	1	TEAD4	12	3128322	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	80929	3128322	130723573	9270	12886											
EFCAB4B	84766	broad.mit.edu	37	12	3788249	3788249	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:3788249C>T	ENST00000440314.2	-	6	829	c.356G>A	c.(355-357)aGc>aAc	p.S119N	EFCAB4B_ENST00000444507.1_Missense_Mutation_p.S119N|EFCAB4B_ENST00000252322.1_Missense_Mutation_p.S119N	NM_001144958.1	NP_001138430.1	Q9BSW2	EFC4B_HUMAN	EF-hand calcium binding domain 4B	119	EF-hand 2.				activation of store-operated calcium channel activity|store-operated calcium entry	cytoplasm	calcium ion binding|protein binding			breast(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00287)|COAD - Colon adenocarcinoma(12;0.0264)			GTTATTCTGGCTGAAGAAGAA	0.537													25	35					0	0	1	0	0	T	3788249	C	T	3788249	3	4	81	1	0	0	0	0	1	0	0	0	4963	797	28	2	2091	2	EFCAB4B	12	3788249	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	659927	3788249	130063646	9271	12887											
EFCAB4B	84766	broad.mit.edu	37	12	3788265	3788265	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:3788265C>A	ENST00000440314.2	-	6	814		c.e6-1		EFCAB4B_ENST00000444507.1_Splice_Site|EFCAB4B_ENST00000252322.1_Splice_Site	NM_001144958.1	NP_001138430.1	Q9BSW2	EFC4B_HUMAN	EF-hand calcium binding domain 4B						activation of store-operated calcium channel activity|store-operated calcium entry	cytoplasm	calcium ion binding|protein binding			breast(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00287)|COAD - Colon adenocarcinoma(12;0.0264)			AAGAAGTGACCTGGGGGGTGC	0.522													17	35					9.16793e-09	1.09544e-08	1	1	0	A	3788265	C	A	3788265	5	1	81	1	0	0	0	0	0	0	1	0	4963	695	24	4	2107	4	EFCAB4B	12	3788265	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	16	3788265	130063630	9272	12888											
PARP11	57097	broad.mit.edu	37	12	3939117	3939117	+	Translation_Start_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:3939117G>A	ENST00000427057.2	-	0	333				PARP11_ENST00000447133.3_De_novo_Start_OutOfFrame|PARP11_ENST00000228820.4_Missense_Mutation_p.T29M|PARP11_ENST00000397096.2_Missense_Mutation_p.T22M			Q9NR21	PAR11_HUMAN	poly (ADP-ribose) polymerase family, member 11								NAD+ ADP-ribosyltransferase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)	17			all cancers(3;1.58e-07)|OV - Ovarian serous cystadenocarcinoma(31;0.00287)|GBM - Glioblastoma multiforme(3;0.0141)|COAD - Colon adenocarcinoma(12;0.0264)			GGTATCTGACGTGTCCATGTC	0.413													4	58					0	0	1	0	0	A	3939117	G	A	3939117	1	1	81	1	0	0	0	0	0	0	0	0	11503	1145	40	1		1	PARP11	12	3939117	Translation_Start_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	150852	3939117	129912778	9273	12889											
C12orf4	57102	broad.mit.edu	37	12	4600386	4600386	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:4600386G>T	ENST00000261250.3	-	12	1542	c.1455C>A	c.(1453-1455)ccC>ccA	p.P485P	C12orf4_ENST00000545746.1_Silent_p.P485P	NM_020374.2	NP_065107.1	Q9NQ89	CL004_HUMAN	chromosome 12 open reading frame 4	485										NS(1)|endometrium(1)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	13			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)	BRCA - Breast invasive adenocarcinoma(232;0.0281)		TTAAGCACCAGGGTATAGTCA	0.348													43	67					2.64894e-19	3.4477e-19	1	1	0	T	4600386	G	T	4600386	2	4	81	1	0	0	0	0	0	0	0	1	1691	987	35	4		4	C12orf4	12	4600386	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	661269	4600386	129251509	9274	12890											
NDUFA9	4704	broad.mit.edu	37	12	4763994	4763994	+	Missense_Mutation	SNP	G	G	A	rs35263902	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:4763994G>A	ENST00000266544.5	+	3	244	c.224G>A	c.(223-225)cGc>cAc	p.R75H	RP11-500M8.7_ENST00000536588.1_3'UTR|NDUFA9_ENST00000542369.1_3'UTR	NM_005002.4	NP_004993.1	Q16795	NDUA9_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9, 39kDa	75					mitochondrial electron transport, NADH to ubiquinone|sodium ion transport	mitochondrial matrix|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity|protein binding			NS(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21					NADH(DB00157)	CTTTTAGGACGCATGGGGTCA	0.383													23	40					0	0	1	0	0	A	4763994	G	A	4763994	3	1	81	1	0	0	0	0	1	0	0	0	10319	1087	38	1	234	1	NDUFA9	12	4763994	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	163608	4763994	129087901	9275	12891											
NDUFA9	4704	broad.mit.edu	37	12	4764024	4764024	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:4764024G>A	ENST00000266544.5	+	3	274	c.254G>A	c.(253-255)cGg>cAg	p.R85Q	RP11-500M8.7_ENST00000536588.1_3'UTR|NDUFA9_ENST00000542369.1_3'UTR	NM_005002.4	NP_004993.1	Q16795	NDUA9_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9, 39kDa	85					mitochondrial electron transport, NADH to ubiquinone|sodium ion transport	mitochondrial matrix|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity|protein binding	p.R85L(2)		NS(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21					NADH(DB00157)	ATACCCTATCGGTGTGATAAA	0.403													26	39					0	0	1	0	0	A	4764024	G	A	4764024	3	1	81	1	0	0	0	0	1	0	0	0	10319	1116	39	1	264	1	NDUFA9	12	4764024	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	30	4764024	129087871	9276	12892											
NDUFA9	4704	broad.mit.edu	37	12	4791407	4791407	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:4791407C>T	ENST00000266544.5	+	9	857	c.837C>T	c.(835-837)taC>taT	p.Y279Y	RP11-234B24.6_ENST00000544741.2_Silent_p.Y38Y	NM_005002.4	NP_004993.1	Q16795	NDUA9_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9, 39kDa	279					mitochondrial electron transport, NADH to ubiquinone|sodium ion transport	mitochondrial matrix|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity|protein binding			NS(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21					NADH(DB00157)	TGGTGAAGTACATCTTTGCTG	0.428													53	71					0	0	1	0	0	T	4791407	C	T	4791407	2	4	81	1	0	0	0	0	0	0	0	1	10319	489	17	2		2	NDUFA9	12	4791407	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	27383	4791407	129060488	9277	12893											
NDUFA9	4704	broad.mit.edu	37	12	4796192	4796192	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:4796192A>G	ENST00000266544.5	+	11	1072	c.1052A>G	c.(1051-1053)gAg>gGg	p.E351G	NDUFA9_ENST00000540688.1_Missense_Mutation_p.E110G|RP11-234B24.6_ENST00000544741.2_Intron	NM_005002.4	NP_004993.1	Q16795	NDUA9_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9, 39kDa	351					mitochondrial electron transport, NADH to ubiquinone|sodium ion transport	mitochondrial matrix|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity|protein binding			NS(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21					NADH(DB00157)	AAGGCCATTGAGGTGCTGCGG	0.517													3	25					0	0	1	0	0	G	4796192	A	G	4796192	3	3	81	1	0	0	0	0	1	0	0	0	10319	304	11	3	1094	3	NDUFA9	12	4796192	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	4785	4796192	129055703	9278	12894											
GALNT8	26290	broad.mit.edu	37	12	4872542	4872542	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:4872542G>A	ENST00000252318.2	+	8	1820	c.1483G>A	c.(1483-1485)Gtg>Atg	p.V495M		NM_017417.1	NP_059113.1	Q9NY28	GALT8_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8)	495						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	35						CCACACCATCGTGGGCTATGG	0.418													55	73					0	0	1	0	0	A	4872542	G	A	4872542	3	1	81	1	0	0	0	0	1	0	0	0	6259	1145	40	1	1513	1	GALNT8	12	4872542	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	76350	4872542	128979353	9279	12895											
KCNA1	3736	broad.mit.edu	37	12	5021550	5021550	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:5021550G>A	ENST00000382545.3	+	2	2113	c.1006G>A	c.(1006-1008)Ggg>Agg	p.G336R	KCNA1_ENST00000543874.2_Intron	NM_000217.2	NP_000208.2	Q09470	KCNA1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)	336					synaptic transmission	juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity			NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63					Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	CCTCTTCATCGGGGTCATCCT	0.552													39	61					0	0	1	0	0	A	5021550	G	A	5021550	3	1	81	1	0	0	0	0	1	0	0	0	8045	1116	39	1	1008	1	KCNA1	12	5021550	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	149008	5021550	128830345	9280	12896											
KCNA5	3741	broad.mit.edu	37	12	5154306	5154306	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:5154306C>T	ENST00000252321.3	+	1	1222	c.993C>T	c.(991-993)tgC>tgT	p.C331C		NM_002234.3	NP_002225.2	P22460	KCNA5_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 5	331						Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2)	52						AGACCACGTGCGTCATCTGGT	0.647													4	60					0	0	1	0	0	T	5154306	C	T	5154306	2	4	81	1	0	0	0	0	0	0	0	1	8050	776	27	1		1	KCNA5	12	5154306	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	132756	5154306	128697589	9281	12897											
KCNA5	3741	broad.mit.edu	37	12	5154806	5154806	+	Missense_Mutation	SNP	C	C	T	rs145163163		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:5154806C>T	ENST00000252321.3	+	1	1722	c.1493C>T	c.(1492-1494)tCg>tTg	p.S498L		NM_002234.3	NP_002225.2	P22460	KCNA5_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 5	498						Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2)	52						ATCGTGGGCTCGCTGTGTGCC	0.607													33	34					0	0	1	0	0	T	5154806	C	T	5154806	3	4	81	1	0	0	0	0	1	0	0	0	8050	893	31	1	1495	1	KCNA5	12	5154806	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	500	5154806	128697089	9282	12898											
ANO2	57101	broad.mit.edu	37	12	5744492	5744492	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:5744492C>T	ENST00000356134.5	-	18	1716	c.1645G>A	c.(1645-1647)Gtc>Atc	p.V549I	ANO2_ENST00000327087.8_Missense_Mutation_p.V548I|ANO2_ENST00000538154.1_5'UTR|ANO2_ENST00000546188.1_Missense_Mutation_p.V549I	NM_001278596.1	NP_001265525.1	Q9NQ90	ANO2_HUMAN	anoctamin 2	553						chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						ACCCCAAAGACGATTGAGAAT	0.483													6	17					0	0	1	0	0	T	5744492	C	T	5744492	3	4	81	1	0	0	0	0	1	0	0	0	691	536	19	1	1394	1	ANO2	12	5744492	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	589686	5744492	128107403	9283	12899											
VWF	7450	broad.mit.edu	37	12	6091141	6091141	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:6091141C>A	ENST00000261405.5	-	42	7352	c.7098G>T	c.(7096-7098)gaG>gaT	p.E2366D		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	2366					blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	CTCTTTTGCACTCCTCCTTCC	0.597													16	27					2.32078e-09	2.80257e-09	1	1	0	A	6091141	C	A	6091141	3	1	81	1	0	0	0	0	1	0	0	0	17306	564	20	4	1387	4	VWF	12	6091141	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	346649	6091141	127760754	9284	12900											
VWF	7450	broad.mit.edu	37	12	6173434	6173434	+	Silent	SNP	G	G	A	rs111867665		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:6173434G>A	ENST00000261405.5	-	12	1664	c.1410C>T	c.(1408-1410)gaC>gaT	p.D470D		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	470	VWFD 2.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	GGAGCTGGACGTCCTGGCCAT	0.632													20	16					0	0	1	0	0	A	6173434	G	A	6173434	2	1	81	1	0	0	0	0	0	0	0	1	17306	1136	40	1		1	VWF	12	6173434	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	82293	6173434	127678461	9285	12901											
VWF	7450	broad.mit.edu	37	12	6180463	6180463	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:6180463C>A	ENST00000261405.5	-	10	1410	c.1156G>T	c.(1156-1158)Ggg>Tgg	p.G386W		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	386					blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	GGTCGCCTACCTGGACATTCT	0.547													5	35					0.0215528	0.0221217	1	1	0	A	6180463	C	A	6180463	5	1	81	1	0	0	0	0	0	0	1	0	17306	695	24	4	7457	4	VWF	12	6180463	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	7029	6180463	127671432	9286	12902											
MRPL51	51258	broad.mit.edu	37	12	6601555	6601555	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:6601555C>T	ENST00000229238.3	-	3	730	c.269G>A	c.(268-270)cGt>cAt	p.R90H	MRPL51_ENST00000543164.1_5'UTR|MRPL51_ENST00000543703.1_5'UTR	NM_016497.3	NP_057581.2	Q4U2R6	RM51_HUMAN	mitochondrial ribosomal protein L51	90					translation	mitochondrial large ribosomal subunit	protein binding|structural constituent of ribosome			kidney(2)|large_intestine(1)|lung(3)	6						TCGGATACAACGTTGCAATTC	0.438													128	173					0	0	1	0	0	T	6601555	C	T	6601555	3	4	81	1	0	0	0	0	1	0	0	0	9864	536	19	1	121	1	MRPL51	12	6601555	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	421092	6601555	127250340	9287	12903											
NCAPD2	9918	broad.mit.edu	37	12	6619249	6619249	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:6619249G>A	ENST00000315579.5	+	4	1011	c.212G>A	c.(211-213)cGa>cAa	p.R71Q	NCAPD2_ENST00000545962.1_Intron	NM_014865.3	NP_055680.3	Q15021	CND1_HUMAN	non-SMC condensin I complex, subunit D2	71	Interactions with SMC2 and SMC4.				cell division|mitotic chromosome condensation	condensin core heterodimer|cytoplasm	histone binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	48						AGTCACTTTCGAAGTATAGAT	0.463													6	27					0	0	1	0	0	A	6619249	G	A	6619249	3	1	81	1	0	0	0	0	1	0	0	0	10252	1058	37	1	222	1	NCAPD2	12	6619249	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	17694	6619249	127232646	9288	12904											
NCAPD2	9918	broad.mit.edu	37	12	6637969	6637969	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:6637969G>A	ENST00000315579.5	+	26	4223	c.3424G>A	c.(3424-3426)Gag>Aag	p.E1142K	NCAPD2_ENST00000545962.1_Missense_Mutation_p.E1097K	NM_014865.3	NP_055680.3	Q15021	CND1_HUMAN	non-SMC condensin I complex, subunit D2	1142					cell division|mitotic chromosome condensation	condensin core heterodimer|cytoplasm	histone binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	48						CATCGACCCCGAGCCTCAGAT	0.592													4	34					0	0	1	0	0	A	6637969	G	A	6637969	3	1	81	1	0	0	0	0	1	0	0	0	10252	1059	37	1	3522	1	NCAPD2	12	6637969	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	18720	6637969	127213926	9289	12905											
NCAPD2	9918	broad.mit.edu	37	12	6638999	6638999	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:6638999C>T	ENST00000315579.5	+	29	4511	c.3712C>T	c.(3712-3714)Cga>Tga	p.R1238*	NCAPD2_ENST00000545962.1_Nonsense_Mutation_p.R1193*	NM_014865.3	NP_055680.3	Q15021	CND1_HUMAN	non-SMC condensin I complex, subunit D2	1238					cell division|mitotic chromosome condensation	condensin core heterodimer|cytoplasm	histone binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	48						CCTCACAGAGCGAGGCCTCCG	0.522													41	47					0	0	1	0	0	T	6638999	C	T	6638999	4	4	81	1	0	0	0	0	0	1	0	0	10252	760	27	1	3822	1	NCAPD2	12	6638999	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1030	6638999	127212896	9290	12906	59	2									
NCAPD2	9918	broad.mit.edu	37	12	6639008	6639008	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:6639008C>T	ENST00000315579.5	+	29	4520	c.3721C>T	c.(3721-3723)Cgt>Tgt	p.R1241C	NCAPD2_ENST00000545962.1_Missense_Mutation_p.R1196C	NM_014865.3	NP_055680.3	Q15021	CND1_HUMAN	non-SMC condensin I complex, subunit D2	1241					cell division|mitotic chromosome condensation	condensin core heterodimer|cytoplasm	histone binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	48						GCGAGGCCTCCGTAAGATGCT	0.532													32	56					0	0	1	0	0	T	6639008	C	T	6639008	3	4	81	1	0	0	0	0	1	0	0	0	10252	652	23	1	3831	1	NCAPD2	12	6639008	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	9	6639008	127212887	9291	12907	59	2									
IFFO1	25900	broad.mit.edu	37	12	6658995	6658995	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:6658995C>T	ENST00000436152.2	-	5	636	c.77G>A	c.(76-78)cGc>cAc	p.R26H	IFFO1_ENST00000336604.4_Missense_Mutation_p.R333H|IFFO1_ENST00000356896.4_Missense_Mutation_p.R333H|IFFO1_ENST00000465801.1_Missense_Mutation_p.R26H|IFFO1_ENST00000396840.2_Missense_Mutation_p.R333H			Q0D2I5	IFFO1_HUMAN	intermediate filament family orphan 1	333						intermediate filament				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	20						GATGTCGATGCGGCGGCAGAT	0.597													10	20					0	0	1	0	0	T	6658995	C	T	6658995	3	4	81	1	0	0	0	0	1	0	0	0	7554	768	27	1	721	1	IFFO1	12	6658995	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	19987	6658995	127192900	9292	12908											
CHD4	1108	broad.mit.edu	37	12	6700693	6700693	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:6700693G>A	ENST00000309577.6	-	22	3442	c.3279C>T	c.(3277-3279)taC>taT	p.Y1093Y	CHD4_ENST00000544484.1_Silent_p.Y1090Y|CHD4_ENST00000544040.1_Silent_p.Y1086Y|CHD4_ENST00000357008.2_Silent_p.Y1093Y			Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	1093	Helicase C-terminal.				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2						CGATGCGTTCGTATTTATAAC	0.438													6	128					0	0	1	0	0	A	6700693	G	A	6700693	2	1	81	1	0	0	0	0	0	0	0	1	3349	1140	40	1		1	CHD4	12	6700693	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	41698	6700693	127151202	9293	12909											
CHD4	1108	broad.mit.edu	37	12	6702687	6702687	+	Silent	SNP	G	G	A	rs112803905		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:6702687G>A	ENST00000309577.6	-	16	2572	c.2409C>T	c.(2407-2409)gtC>gtT	p.V803V	CHD4_ENST00000544484.1_Silent_p.V800V|CHD4_ENST00000544040.1_Silent_p.V796V|CHD4_ENST00000357008.2_Silent_p.V803V			Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	803	Helicase ATP-binding.				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2						CATAGGTTACGACATACATGT	0.527													40	61					0	0	1	0	0	A	6702687	G	A	6702687	2	1	81	1	0	0	0	0	0	0	0	1	3349	1045	37	1		1	CHD4	12	6702687	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1994	6702687	127149208	9294	12910											
CHD4	1108	broad.mit.edu	37	12	6711198	6711198	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:6711198A>G	ENST00000309577.6	-	4	529	c.366T>C	c.(364-366)ccT>ccC	p.P122P	CHD4_ENST00000544484.1_Silent_p.P119P|CHD4_ENST00000544040.1_Silent_p.P115P|CHD4_ENST00000357008.2_Silent_p.P122P			Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	122					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2						TCTCTTTCTTAGGTCCAAGCT	0.517													5	34					0	0	1	0	0	G	6711198	A	G	6711198	2	3	81	1	0	0	0	0	0	0	0	1	3349	407	15	3		3	CHD4	12	6711198	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	8511	6711198	127140697	9295	12911											
ING4	51147	broad.mit.edu	37	12	6761527	6761527	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:6761527C>T	ENST00000341550.4	-	6	601	c.555G>A	c.(553-555)gtG>gtA	p.V185V	ING4_ENST00000412586.2_Silent_p.V183V|ING4_ENST00000486287.1_Intron|ING4_ENST00000446105.2_Silent_p.V182V|ING4_ENST00000423703.2_Intron|ING4_ENST00000396807.4_Silent_p.V186V|ING4_ENST00000444704.2_Silent_p.V162V			Q9UNL4	ING4_HUMAN	inhibitor of growth family, member 4	186					apoptosis|cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA replication|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation|negative regulation of cell proliferation|negative regulation of growth|negative regulation of transcription, DNA-dependent|positive regulation of apoptosis	histone acetyltransferase complex	protein binding|transcription coactivator activity|zinc ion binding			central_nervous_system(3)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)	10						GCATATCCAACACATCAGAGG	0.507													5	88					0	0	1	0	0	T	6761527	C	T	6761527	2	4	81	1	0	0	0	0	0	0	0	1	7782	465	17	2		2	ING4	12	6761527	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	50329	6761527	127090368	9296	12912											
COPS7A	50813	broad.mit.edu	37	12	6833966	6833966	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:6833966C>T	ENST00000543155.1	+	2	626	c.144C>T	c.(142-144)gaC>gaT	p.D48D	COPS7A_ENST00000534877.1_Silent_p.D48D|COPS7A_ENST00000542150.1_Intron|COPS7A_ENST00000534947.1_Silent_p.D48D|COPS7A_ENST00000538410.1_Silent_p.D48D|COPS7A_ENST00000539735.1_Silent_p.D48D|COPS7A_ENST00000229251.3_Silent_p.D48D	NM_001164094.1	NP_001157566.1	Q9UBW8	CSN7A_HUMAN	COP9 signalosome subunit 7A	48					cullin deneddylation	cytoplasm|signalosome				endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(2)|ovary(1)|urinary_tract(1)	10						AACTGCTGGACATGCCCAATG	0.557													14	23					0	0	1	0	0	T	6833966	C	T	6833966	2	4	81	1	0	0	0	0	0	0	0	1	3761	477	17	2		2	COPS7A	12	6833966	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	72439	6833966	127017929	9297	12913											
COPS7A	50813	broad.mit.edu	37	12	6838441	6838441	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:6838441C>A	ENST00000543155.1	+	5	838	c.356C>A	c.(355-357)gCt>gAt	p.A119D	COPS7A_ENST00000534877.1_Missense_Mutation_p.A119D|COPS7A_ENST00000542150.1_3'UTR|COPS7A_ENST00000534947.1_Missense_Mutation_p.A119D|COPS7A_ENST00000538410.1_Missense_Mutation_p.A119D|COPS7A_ENST00000539735.1_Missense_Mutation_p.A119D|COPS7A_ENST00000229251.3_Missense_Mutation_p.A119D	NM_001164094.1	NP_001157566.1	Q9UBW8	CSN7A_HUMAN	COP9 signalosome subunit 7A	119	PCI.				cullin deneddylation	cytoplasm|signalosome				endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(2)|ovary(1)|urinary_tract(1)	10						TTGCTGGAGGCTCTTGCCCTG	0.577													9	81					1.12685e-05	1.27052e-05	1	1	0	A	6838441	C	A	6838441	3	1	81	1	0	0	0	0	1	0	0	0	3761	797	28	4	370	4	COPS7A	12	6838441	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	4475	6838441	127013454	9298	12914											
LAG3	3902	broad.mit.edu	37	12	6886956	6886956	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:6886956G>T	ENST00000203629.2	+	7	1633		c.e7-1			NM_002286.5	NP_002277.4	P18627	LAG3_HUMAN	lymphocyte-activation gene 3							integral to membrane	antigen binding|MHC class II protein binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						TTTCTCCATAGGTGCCCAACG	0.517													6	75					3.59834e-05	3.99423e-05	1	1	0	T	6886956	G	T	6886956	5	4	81	1	0	0	0	0	0	0	1	0	8639	1014	35	4	1326	4	LAG3	12	6886956	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	48515	6886956	126964939	9299	12915											
CD4	920	broad.mit.edu	37	12	6909495	6909495	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:6909495G>T	ENST00000011653.4	+	3	330	c.72G>T	c.(70-72)caG>caT	p.Q24H	CD4_ENST00000541982.1_Intron|CD4_ENST00000538827.1_Intron	NM_000616.4|NM_001195015.2|NM_001195016.2|NM_001195017.2	NP_000607.1|NP_001181944.1|NP_001181945.1|NP_001181946.1	P01730	CD4_HUMAN	CD4 molecule	24					cell adhesion|entry into host cell|immune response|induction by virus of host cell-cell fusion|initiation of viral infection|maintenance of protein location in cell|positive regulation of interleukin-2 biosynthetic process|positive regulation of protein kinase activity|protein palmitoleylation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|T cell selection|transmembrane receptor protein tyrosine kinase signaling pathway	early endosome|endoplasmic reticulum membrane|integral to membrane|T cell receptor complex	coreceptor activity|extracellular matrix structural constituent|glycoprotein binding|MHC class II protein binding|protein homodimerization activity|protein kinase binding|transmembrane receptor activity|zinc ion binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	23		Myeloproliferative disorder(1001;0.0122)				CAGCCACTCAGGGAAAGAAAG	0.522													17	25					3.57192e-18	4.62772e-18	1	1	0	T	6909495	G	T	6909495	3	4	81	1	0	0	0	0	1	0	0	0	3036	991	35	4	78	4	CD4	12	6909495	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	22539	6909495	126942400	9300	12916											
GPR162	27239	broad.mit.edu	37	12	6933544	6933544	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:6933544C>T	ENST00000311268.3	+	2	1267	c.480C>T	c.(478-480)ggC>ggT	p.G160G	GPR162_ENST00000541431.1_3'UTR|GPR162_ENST00000382315.3_Intron|GPR162_ENST00000428545.2_Intron	NM_019858.1	NP_062832.1	Q16538	GP162_HUMAN	G protein-coupled receptor 162	160						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(1)	18						ACAACAACGGCGAGCGCTACT	0.577													11	17					0	0	1	0	0	T	6933544	C	T	6933544	2	4	81	1	0	0	0	0	0	0	0	1	6706	755	27	1		1	GPR162	12	6933544	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	24049	6933544	126918351	9301	12917											
GPR162	27239	broad.mit.edu	37	12	6934736	6934736	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:6934736C>T	ENST00000311268.3	+	3	1742	c.955C>T	c.(955-957)Ctg>Ttg	p.L319L	GPR162_ENST00000382315.3_Silent_p.L15L|GPR162_ENST00000428545.2_Silent_p.L35L	NM_019858.1	NP_062832.1	Q16538	GP162_HUMAN	G protein-coupled receptor 162	319						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(1)	18						ACAGACGCTGCTGCTGCCCTC	0.637											OREG0021636	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	6					0	0	1	0	0	T	6934736	C	T	6934736	2	4	81	1	0	0	0	0	0	0	0	1	6706	796	28	2		2	GPR162	12	6934736	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1192	6934736	126917159	9302	12918											
LEPREL2	10536	broad.mit.edu	37	12	6946155	6946155	+	RNA	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:6946155G>T	ENST00000251761.8	+	0	1498				LEPREL2_ENST00000606935.1_RNA|LEPREL2_ENST00000396725.2_RNA|LEPREL2_ENST00000538102.1_RNA	NM_014262.3	NP_055077.2			leprecan-like 2											breast(1)|cervix(1)|endometrium(2)|lung(6)	10						TTAGGATGCAGCTGGGGCTGG	0.647													12	15					1.05317e-09	1.27674e-09	1	1	0	T	6946155	G	T	6946155	1	4	81	0	1	0	0	0	0	0	0	0	8770	971	34	4		4	LEPREL2	12	6946155	RNA	SNP	G	TCGA-DU-6392-01A-11D-1705-08	11419	6946155	126905740	9303	12919											
CDCA3	83461	broad.mit.edu	37	12	6958590	6958590	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:6958590G>T	ENST00000538862.2	-	5	1449	c.548C>A	c.(547-549)tCt>tAt	p.S183Y	CDCA3_ENST00000535406.1_Missense_Mutation_p.S183Y|CDCA3_ENST00000540683.1_Intron|CDCA3_ENST00000422785.3_Intron|CDCA3_ENST00000229265.6_Missense_Mutation_p.S158Y			Q99618	CDCA3_HUMAN	cell division cycle associated 3	183					cell division|mitosis	cytosol				breast(1)|endometrium(1)|large_intestine(4)|lung(1)|stomach(1)	8						ATTGCGCATAGAACCTGGGGT	0.507													15	35					1.05317e-09	1.27674e-09	1	1	0	T	6958590	G	T	6958590	3	4	81	1	0	0	0	0	1	0	0	0	3109	942	33	4	266	4	CDCA3	12	6958590	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	12435	6958590	126893305	9304	12920											
TPI1	7167	broad.mit.edu	37	12	6978315	6978315	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:6978315G>A	ENST00000229270.4	+	3	740	c.403G>A	c.(403-405)Gag>Aag	p.E135K	TPI1_ENST00000535434.1_Missense_Mutation_p.E16K|TPI1_ENST00000488464.2_Missense_Mutation_p.E16K|TPI1_ENST00000396705.5_Missense_Mutation_p.E98K	NM_001159287.1	NP_001152759.1	P60174	TPIS_HUMAN	triosephosphate isomerase 1	98					fatty acid biosynthetic process|gluconeogenesis|glycolysis|pentose-phosphate shunt	cytosol	triose-phosphate isomerase activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(11)|prostate(1)|skin(2)	19						GGGGCACTCAGAGAGAAGGCA	0.522											OREG0021638	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	88	107					0	0	1	0	0	A	6978315	G	A	6978315	3	1	81	1	0	0	0	0	1	0	0	0	16464	943	33	2	413	2	TPI1	12	6978315	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	19725	6978315	126873580	9305	12921											
LRRC23	10233	broad.mit.edu	37	12	7015617	7015617	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:7015617G>A	ENST00000007969.8	+	4	501	c.281G>A	c.(280-282)cGc>cAc	p.R94H	LRRC23_ENST00000323702.5_Missense_Mutation_p.R94H|LRRC23_ENST00000436789.1_Missense_Mutation_p.R94H|LRRC23_ENST00000449039.1_3'UTR|LRRC23_ENST00000433346.1_Missense_Mutation_p.R94H|LRRC23_ENST00000429740.1_Missense_Mutation_p.R94H|LRRC23_ENST00000443597.2_Missense_Mutation_p.R94H	NM_001135217.1|NM_201650.2	NP_001128689.1|NP_964013.1	Q53EV4	LRC23_HUMAN	leucine rich repeat containing 23	94										NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|stomach(1)	13						ATCCATCTGCGCTATGTGGAT	0.527													206	245					0	0	1	0	0	A	7015617	G	A	7015617	3	1	81	1	0	0	0	0	1	0	0	0	9023	1087	38	1	291	1	LRRC23	12	7015617	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	37302	7015617	126836278	9306	12922											
ENO2	2026	broad.mit.edu	37	12	7027207	7027207	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:7027207G>A	ENST00000535366.1	+	6	1174	c.548G>A	c.(547-549)cGa>cAa	p.R183Q	ENO2_ENST00000541477.1_Missense_Mutation_p.R183Q|ENO2_ENST00000229277.1_Missense_Mutation_p.R183Q|ENO2_ENST00000544774.1_Missense_Mutation_p.R140Q|ENO2_ENST00000538763.1_Missense_Mutation_p.R140Q|ENO2_ENST00000545045.2_Intron			P09104	ENOG_HUMAN	enolase 2 (gamma, neuronal)	183					gluconeogenesis|glycolysis	phosphopyruvate hydratase complex|plasma membrane	magnesium ion binding|phosphopyruvate hydratase activity			endometrium(3)|large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						GATGCCATGCGACTAGGTGCA	0.537													19	32					0	0	1	0	0	A	7027207	G	A	7027207	3	1	81	1	0	0	0	0	1	0	0	0	5150	1058	37	1	570	1	ENO2	12	7027207	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	11590	7027207	126824688	9307	12923											
ATN1	1822	broad.mit.edu	37	12	7045646	7045646	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:7045646C>T	ENST00000356654.4	+	5	1453	c.1216C>T	c.(1216-1218)Ccc>Tcc	p.P406S	ATN1_ENST00000396684.2_Missense_Mutation_p.P406S	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN	atrophin 1	406					cell death|central nervous system development	cytoplasm|nucleus	protein domain specific binding			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						CCAGGCATTGCCCAGCTACCC	0.567													12	11					0	0	1	0	0	T	7045646	C	T	7045646	3	4	81	1	0	0	0	0	1	0	0	0	1110	739	26	2	1230	2	ATN1	12	7045646	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	18439	7045646	126806249	9308	12924											
PHB2	11331	broad.mit.edu	37	12	7077078	7077078	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:7077078G>T	ENST00000535923.1	-	5	865	c.584C>A	c.(583-585)gCt>gAt	p.A195D	PHB2_ENST00000399433.2_Missense_Mutation_p.A195D|PHB2_ENST00000546111.1_Intron|PHB2_ENST00000440277.1_Missense_Mutation_p.A195D|PHB2_ENST00000542912.1_Missense_Mutation_p.A195D	NM_001144831.1	NP_001138303.1	Q99623	PHB2_HUMAN	prohibitin 2	195					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial inner membrane|nucleus	estrogen receptor binding|receptor activity			ovary(2)|pancreas(1)	3						TTCTACAGCAGCTGTGTACTC	0.582													16	200					1.99824e-07	2.33645e-07	1	1	0	T	7077078	G	T	7077078	3	4	81	1	0	0	0	0	1	0	0	0	11863	971	34	4	335	4	PHB2	12	7077078	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	31432	7077078	126774817	9309	12925											
C1S	716	broad.mit.edu	37	12	7177275	7177275	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:7177275G>T	ENST00000406697.1	+	15	2015	c.1387G>T	c.(1387-1389)Gcg>Tcg	p.A463S	C1S_ENST00000328916.3_Missense_Mutation_p.A463S|C1S_ENST00000495061.1_3'UTR|C1S_ENST00000360817.5_Missense_Mutation_p.A463S|C1S_ENST00000402681.3_Missense_Mutation_p.A296S			P09871	C1S_HUMAN	complement component 1, s subcomponent	463	Peptidase S1.				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33					Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	GGCTGGTGGAGCGCTCATTAA	0.493													12	32					2.80697e-09	3.37799e-09	1	1	0	T	7177275	G	T	7177275	3	4	81	1	0	0	0	0	1	0	0	0	1987	971	34	4	1429	4	C1S	12	7177275	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	100197	7177275	126674620	9310	12926											
C1S	716	broad.mit.edu	37	12	7177630	7177630	+	Missense_Mutation	SNP	G	G	A	rs150394565		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:7177630G>A	ENST00000406697.1	+	15	2370	c.1742G>A	c.(1741-1743)cGc>cAc	p.R581H	C1S_ENST00000328916.3_Missense_Mutation_p.R581H|C1S_ENST00000360817.5_Missense_Mutation_p.R581H|C1S_ENST00000402681.3_Missense_Mutation_p.R414H			P09871	C1S_HUMAN	complement component 1, s subcomponent	581	Peptidase S1.				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33					Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	CGTGCTGTTCGCCTCAAGGCG	0.522													19	24					0	0	1	0	0	A	7177630	G	A	7177630	3	1	81	1	0	0	0	0	1	0	0	0	1987	1087	38	1	1784	1	C1S	12	7177630	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	355	7177630	126674265	9311	12927											
C1R	715	broad.mit.edu	37	12	7188195	7188195	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:7188195G>T	ENST00000542285.1	-	11	1752	c.1603C>A	c.(1603-1605)Ctg>Atg	p.L535M				P00736	C1R_HUMAN	complement component 1, r subcomponent	587	Peptidase S1.				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity			endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|pancreas(1)	16					Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	ATCAAGCCCAGGTCGTAGAAG	0.567													9	17					7.48243e-07	8.64403e-07	1	1	0	T	7188195	G	T	7188195	3	4	81	1	0	0	0	0	1	0	0	0	1985	991	35	4	362	4	C1R	12	7188195	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	10565	7188195	126663700	9312	12928											
C1R	715	broad.mit.edu	37	12	7188444	7188444	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:7188444G>T	ENST00000542285.1	-	11	1503	c.1354C>A	c.(1354-1356)Ctg>Atg	p.L452M				P00736	C1R_HUMAN	complement component 1, r subcomponent	504					complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity			endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|pancreas(1)	16					Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	TTGGGATACAGGGTGTGGGCA	0.597													5	22					0.0215528	0.0221217	1	1	0	T	7188444	G	T	7188444	3	4	81	1	0	0	0	0	1	0	0	0	1985	991	35	4	611	4	C1R	12	7188444	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	249	7188444	126663451	9313	12929											
C1R	715	broad.mit.edu	37	12	7241913	7241913	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:7241913T>C	ENST00000542285.1	-	5	890	c.741A>G	c.(739-741)gtA>gtG	p.V247V				P00736	C1R_HUMAN	complement component 1, r subcomponent	248	CUB 2.				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity			endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|pancreas(1)	16					Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	AGGGGCAGTGTACTTGCTGGT	0.582													6	16					0	0	1	0	0	C	7241913	T	C	7241913	2	2	81	1	0	0	0	0	0	0	0	1	1985	1625	57	3		3	C1R	12	7241913	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	53469	7241913	126609982	9314	12930											
C1RL	51279	broad.mit.edu	37	12	7249462	7249462	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:7249462T>C	ENST00000266542.4	-	6	1081	c.989A>G	c.(988-990)cAg>cGg	p.Q330R	C1RL_ENST00000545280.1_Intron|C1RL_ENST00000504702.2_Intron|C1RL_ENST00000544702.1_3'UTR	NM_016546.2	NP_057630.2	Q9NZP8	C1RL_HUMAN	complement component 1, r subcomponent-like	330	Peptidase S1.				complement activation, classical pathway|innate immune response|proteolysis		serine-type endopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						GGACTCATTCTGACGGTAGTC	0.582													27	32					0	0	1	0	0	C	7249462	T	C	7249462	3	2	81	1	0	0	0	0	1	0	0	0	1986	1580	55	3	478	3	C1RL	12	7249462	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	7549	7249462	126602433	9315	12931											
PEX5	5830	broad.mit.edu	37	12	7362699	7362699	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:7362699G>A	ENST00000266563.5	+	15	1872	c.1689G>A	c.(1687-1689)tcG>tcA	p.S563S	PEX5_ENST00000434354.2_Silent_p.S615S|PEX5_ENST00000420616.2_Silent_p.S600S|PEX5_ENST00000412720.2_Silent_p.S621S|PEX5_ENST00000266564.3_Silent_p.S592S|PEX5_ENST00000455147.2_Silent_p.S600S	NM_001131024.1	NP_001124496.1	P50542	PEX5_HUMAN	peroxisomal biogenesis factor 5	600					protein import into peroxisome matrix, translocation|protein targeting to peroxisome|protein tetramerization|protein transport	cytosol|peroxisomal matrix|peroxisomal membrane	peroxisome matrix targeting signal-1 binding|protein C-terminus binding|protein N-terminus binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)	21						GTGCCATGTCGGAGAACATCT	0.592													25	43					0	0	1	0	0	A	7362699	G	A	7362699	2	1	81	1	0	0	0	0	0	0	0	1	11796	1103	39	1		1	PEX5	12	7362699	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	113237	7362699	126489196	9316	12932											
CD163L1	283316	broad.mit.edu	37	12	7519886	7519886	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:7519886G>T	ENST00000313599.3	-	18	4282	c.4225C>A	c.(4225-4227)Cat>Aat	p.H1409N	CD163L1_ENST00000396630.1_Intron|CD163L1_ENST00000416109.2_Missense_Mutation_p.H1419N			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	1409						extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						TCCATCTCATGGAATAAATTC	0.488													15	26					6.49762e-13	8.15126e-13	1	1	0	T	7519886	G	T	7519886	3	4	81	1	0	0	0	0	1	0	0	0	2990	1348	47	5	144	5	CD163L1	12	7519886	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	157187	7519886	126332009	9317	12933											
CD163L1	283316	broad.mit.edu	37	12	7522096	7522096	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:7522096G>A	ENST00000313599.3	-	15	3953	c.3896C>T	c.(3895-3897)gCt>gTt	p.A1299V	CD163L1_ENST00000396630.1_Missense_Mutation_p.A1299V|CD163L1_ENST00000416109.2_Missense_Mutation_p.A1309V			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	1299	SRCR 12.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						GCCAAACGAAGCGTCCCTCAG	0.592													45	61					0	0	1	0	0	A	7522096	G	A	7522096	3	1	81	1	0	0	0	0	1	0	0	0	2990	971	34	2	485	2	CD163L1	12	7522096	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2210	7522096	126329799	9318	12934											
CD163L1	283316	broad.mit.edu	37	12	7527243	7527243	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:7527243G>A	ENST00000313599.3	-	13	3261	c.3204C>T	c.(3202-3204)agC>agT	p.S1068S	CD163L1_ENST00000396630.1_Silent_p.S1068S|CD163L1_ENST00000416109.2_Silent_p.S1078S			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	1068	SRCR 10.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity	p.D1069fs*27(1)|p.S1068S(1)		breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						CGTGGGCATCGCTCAGGTCCC	0.622											OREG0021653	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	18					0	0	1	0	0	A	7527243	G	A	7527243	2	1	81	1	0	0	0	0	0	0	0	1	2990	1078	38	1		1	CD163L1	12	7527243	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	5147	7527243	126324652	9319	12935											
CD163L1	283316	broad.mit.edu	37	12	7531861	7531861	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:7531861C>T	ENST00000313599.3	-	9	2141	c.2084G>A	c.(2083-2085)gGa>gAa	p.G695E	CD163L1_ENST00000544331.1_5'UTR|CD163L1_ENST00000396630.1_Missense_Mutation_p.G695E|CD163L1_ENST00000416109.2_Missense_Mutation_p.G705E			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	695	SRCR 7.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						CCTGCTGCTTCCACCCACAAG	0.453													12	19					0	0	1	0	0	T	7531861	C	T	7531861	3	4	81	1	0	0	0	0	1	0	0	0	2990	855	30	2	2321	2	CD163L1	12	7531861	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	4618	7531861	126320034	9320	12936											
CD163L1	283316	broad.mit.edu	37	12	7556246	7556246	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:7556246A>G	ENST00000313599.3	-	6	1350	c.1293T>C	c.(1291-1293)atT>atC	p.I431I	CD163L1_ENST00000396630.1_Silent_p.I431I|CD163L1_ENST00000416109.2_Silent_p.I441I			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	431	SRCR 4.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						TGTTTATCCAAATGTCTCTAG	0.463													9	107					0	0	1	0	0	G	7556246	A	G	7556246	2	3	81	1	0	0	0	0	0	0	0	1	2990	10	1	3		3	CD163L1	12	7556246	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	24385	7556246	126295649	9321	12937											
CD163	9332	broad.mit.edu	37	12	7640302	7640302	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:7640302C>A	ENST00000396620.3	-	7	1887	c.1802G>T	c.(1801-1803)aGc>aTc	p.S601I	CD163_ENST00000432237.2_Intron|CD163_ENST00000541972.1_Intron|CD163_ENST00000359156.4_Intron			Q86VB7	C163A_HUMAN	CD163 molecule	579	SRCR 6.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						AAAAAGACAGCTATGACTCCC	0.478													28	46					4.59853e-10	5.59907e-10	1	1	0	A	7640302	C	A	7640302	3	1	81	1	0	0	0	0	1	0	0	0	2989	812	28	4		4	CD163	12	7640302	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	84056	7640302	126211593	9322	12938											
CD163	9332	broad.mit.edu	37	12	7653811	7653811	+	Silent	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:7653811A>C	ENST00000359156.4	-	3	583	c.381T>G	c.(379-381)ctT>ctG	p.L127L	CD163_ENST00000432237.2_Silent_p.L127L|CD163_ENST00000541972.1_Silent_p.L115L|CD163_ENST00000396620.3_Silent_p.L127L	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	127	SRCR 1.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						TGCAATCCCAAAGAGCTGACT	0.478													26	162					0	0	1	0	0	C	7653811	A	C	7653811	2	2	81	1	0	0	0	0	0	0	0	1	2989	1	1	5		5	CD163	12	7653811	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	13509	7653811	126198084	9323	12939											
APOBEC1	339	broad.mit.edu	37	12	7805417	7805417	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:7805417G>T	ENST00000229304.4	-	3	79	c.59C>A	c.(58-60)cCc>cAc	p.P20H		NM_001644.3	NP_001635.2	P41238	ABEC1_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide 1	20					cytidine to uridine editing|DNA demethylation|lipid metabolic process|mRNA modification|mRNA processing|negative regulation of methylation-dependent chromatin silencing	nucleoplasm	cytidine deaminase activity|RNA binding|zinc ion binding			kidney(2)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|stomach(1)	17						AAACTCCCAGGGTTCGATTCT	0.463													5	41					0.00198382	0.00209725	1	1	0	T	7805417	G	T	7805417	3	4	81	1	0	0	0	0	1	0	0	0	784	1232	43	5	663	5	APOBEC1	12	7805417	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	151606	7805417	126046478	9324	12940											
SLC2A14	144195	broad.mit.edu	37	12	7985401	7985401	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:7985401C>T	ENST00000543909.1	-	8	856	c.97G>A	c.(97-99)Gct>Act	p.A33T	SLC2A14_ENST00000431042.2_Missense_Mutation_p.A10T|SLC2A14_ENST00000539924.1_Missense_Mutation_p.A48T|SLC2A14_ENST00000396589.2_Missense_Mutation_p.A33T|SLC2A14_ENST00000535295.1_5'UTR|SLC2A14_ENST00000340749.5_Missense_Mutation_p.A10T|SLC2A14_ENST00000542546.1_5'UTR|SLC2A14_ENST00000542505.1_Intron			Q8TDB8	GTR14_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 14	33					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane	glucose transmembrane transporter activity			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	38				Kidney(36;0.0883)		AAGATCAGAGCTGGGGTGACC	0.468											OREG0021654	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	19	22					0	0	1	0	0	T	7985401	C	T	7985401	3	4	81	1	0	0	0	0	1	0	0	0	14598	797	28	2	1501	2	SLC2A14	12	7985401	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	179984	7985401	125866494	9325	12941											
SLC2A3	6515	broad.mit.edu	37	12	8088619	8088619	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:8088619C>A	ENST00000075120.7	-	1	252	c.12G>T	c.(10-12)caG>caT	p.Q4H		NM_006931.2	NP_008862.1	P11169	GTR3_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 3	4					carbohydrate metabolic process|water-soluble vitamin metabolic process	integral to membrane|plasma membrane	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity			central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(14)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				Kidney(36;0.0866)		TTCTTACCTTCTGTGTCCCCA	0.358													18	111					2.94398e-08	3.49414e-08	1	1	0	A	8088619	C	A	8088619	3	1	81	1	0	0	0	0	1	0	0	0	14600	912	32	4	1518	4	SLC2A3	12	8088619	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	103218	8088619	125763276	9326	12942											
C3AR1	719	broad.mit.edu	37	12	8211725	8211725	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:8211725T>C	ENST00000307637.4	-	2	1260	c.1057A>G	c.(1057-1059)Ata>Gta	p.I353V		NM_004054.2	NP_004045.1	Q16581	C3AR_HUMAN	complement component 3a receptor 1	353					blood circulation|chemotaxis|elevation of cytosolic calcium ion concentration|inflammatory response	integral to plasma membrane	C3a anaphylatoxin receptor activity|complement component C3a receptor activity|phosphatidylinositol phospholipase C activity			breast(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)	20				Kidney(36;0.0893)		TAACAGGCTATCATGATAACA	0.517													3	44					0	0	1	0	0	C	8211725	T	C	8211725	3	2	81	1	0	0	0	0	1	0	0	0	2219	1435	50	3	395	3	C3AR1	12	8211725	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	123106	8211725	125640170	9327	12943											
C3AR1	719	broad.mit.edu	37	12	8212381	8212381	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:8212381C>T	ENST00000307637.4	-	2	604	c.401G>A	c.(400-402)cGc>cAc	p.R134H		NM_004054.2	NP_004045.1	Q16581	C3AR_HUMAN	complement component 3a receptor 1	134					blood circulation|chemotaxis|elevation of cytosolic calcium ion concentration|inflammatory response	integral to plasma membrane	C3a anaphylatoxin receptor activity|complement component C3a receptor activity|phosphatidylinositol phospholipase C activity			breast(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)	20				Kidney(36;0.0893)		CCCTACATTGCGATGATTCTG	0.478													26	34					0	0	1	0	0	T	8212381	C	T	8212381	3	4	81	1	0	0	0	0	1	0	0	0	2219	768	27	1	1051	1	C3AR1	12	8212381	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	656	8212381	125639514	9328	12944											
C3AR1	719	broad.mit.edu	37	12	8212652	8212652	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:8212652C>T	ENST00000307637.4	-	2	333	c.130G>A	c.(130-132)Gtg>Atg	p.V44M		NM_004054.2	NP_004045.1	Q16581	C3AR_HUMAN	complement component 3a receptor 1	44					blood circulation|chemotaxis|elevation of cytosolic calcium ion concentration|inflammatory response	integral to plasma membrane	C3a anaphylatoxin receptor activity|complement component C3a receptor activity|phosphatidylinositol phospholipase C activity			breast(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)	20				Kidney(36;0.0893)		ACCCACAGCACCAGCCCATTG	0.542													18	49					0	0	1	0	0	T	8212652	C	T	8212652	3	4	81	1	0	0	0	0	1	0	0	0	2219	507	18	2	1322	2	C3AR1	12	8212652	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	271	8212652	125639243	9329	12945											
CLEC4A	50856	broad.mit.edu	37	12	8278156	8278156	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:8278156G>A	ENST00000229332.5	+	2	329		c.e2-1		CLEC4A_ENST00000345999.3_Intron|CLEC4A_ENST00000360500.3_Intron|CLEC4A_ENST00000352620.3_Splice_Site	NM_016184.3|NM_194447.2|NM_194450.2	NP_057268.1|NP_919429.2|NP_919432.1	Q9UMR7	CLC4A_HUMAN	C-type lectin domain family 4, member A						cell adhesion|cell surface receptor linked signaling pathway|innate immune response	integral to plasma membrane	sugar binding|transmembrane receptor activity			cervix(1)|endometrium(3)|large_intestine(2)|lung(4)|prostate(1)	11				Kidney(36;0.0915)		TTCTTCTTCAGCTTCCAAGGA	0.418													6	45					0	0	1	0	0	A	8278156	G	A	8278156	5	1	81	1	0	0	0	0	0	0	1	0	3535	985	34	2	88	2	CLEC4A	12	8278156	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	65504	8278156	125573739	9330	12946											
CLEC4E	26253	broad.mit.edu	37	12	8689848	8689848	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:8689848A>G	ENST00000299663.3	-	4	400	c.235T>C	c.(235-237)Tgt>Cgt	p.C79R	CLEC4E_ENST00000446457.2_Intron|CLEC4E_ENST00000545274.1_Intron	NM_014358.2	NP_055173.1	Q9ULY5	CLC4E_HUMAN	C-type lectin domain family 4, member E	79						integral to membrane	sugar binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12	Lung SC(5;0.184)					AATGGACAACAATTCTTGACT	0.443													21	49					0	0	1	0	0	G	8689848	A	G	8689848	3	3	81	1	0	0	0	0	1	0	0	0	3538	130	5	3	436	3	CLEC4E	12	8689848	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	411692	8689848	125162047	9331	12947											
AICDA	57379	broad.mit.edu	37	12	8757829	8757829	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:8757829C>T	ENST00000229335.6	-	3	512	c.409G>A	c.(409-411)Gcc>Acc	p.A137T	AICDA_ENST00000537228.1_Missense_Mutation_p.A137T	NM_020661.2	NP_065712.1	Q9GZX7	AICDA_HUMAN	activation-induced cytidine deaminase	137					B cell differentiation|DNA demethylation|mRNA processing|negative regulation of methylation-dependent chromatin silencing	cytoplasm	cytidine deaminase activity|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)	16	Lung SC(5;0.184)					GTCATGATGGCTATTTGCACC	0.627													9	21					0	0	1	0	0	T	8757829	C	T	8757829	3	4	81	1	0	0	0	0	1	0	0	0	419	797	28	2	199	2	AICDA	12	8757829	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	67981	8757829	125094066	9332	12948											
MFAP5	8076	broad.mit.edu	37	12	8803149	8803149	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:8803149T>C	ENST00000359478.2	-	8	471	c.284A>G	c.(283-285)tAc>tGc	p.Y95C	MFAP5_ENST00000396549.2_Missense_Mutation_p.Y85C|MFAP5_ENST00000535336.1_Intron|MFAP5_ENST00000543369.1_Missense_Mutation_p.Y73C|MFAP5_ENST00000433590.2_Missense_Mutation_p.Y70C|MFAP5_ENST00000540087.1_Missense_Mutation_p.Y85C	NM_003480.2	NP_003471.1	Q13361	MFAP5_HUMAN	microfibrillar associated protein 5	95						microfibril	extracellular matrix structural constituent			breast(1)|endometrium(2)|large_intestine(4)|lung(5)|skin(1)	13	Lung SC(5;0.184)					ATGCACAGAGTAGAGCCTTGT	0.433													14	26					0	0	1	0	0	C	8803149	T	C	8803149	3	2	81	1	0	0	0	0	1	0	0	0	9568	1638	57	3	249	3	MFAP5	12	8803149	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	45320	8803149	125048746	9333	12949											
RIMKLB	57494	broad.mit.edu	37	12	8866595	8866595	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:8866595G>A	ENST00000357529.3	+	3	1395	c.133G>A	c.(133-135)Gtg>Atg	p.V45M	RIMKLB_ENST00000535829.1_Missense_Mutation_p.V45M|RIMKLB_ENST00000299673.5_3'UTR|RIMKLB_ENST00000538135.1_Missense_Mutation_p.V45M	NM_020734.2	NP_065785.2	Q9ULI2	RIMKB_HUMAN	ribosomal modification protein rimK-like family member B	45					protein modification process	cytoplasm	acid-amino acid ligase activity|ATP binding|metal ion binding			central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						TAGGGCTGTGGTGATGGATGA	0.428													18	17					0	0	1	0	0	A	8866595	G	A	8866595	3	1	81	1	0	0	0	0	1	0	0	0	13418	1261	44	2	135	2	RIMKLB	12	8866595	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	63446	8866595	124985300	9334	12950											
RIMKLB	57494	broad.mit.edu	37	12	8902618	8902618	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:8902618C>T	ENST00000357529.3	+	4	1598	c.336C>T	c.(334-336)tgC>tgT	p.C112C	RIMKLB_ENST00000535829.1_Silent_p.C112C|RIMKLB_ENST00000299673.5_3'UTR|RIMKLB_ENST00000538135.1_Silent_p.C112C	NM_020734.2	NP_065785.2	Q9ULI2	RIMKB_HUMAN	ribosomal modification protein rimK-like family member B	112					protein modification process	cytoplasm	acid-amino acid ligase activity|ATP binding|metal ion binding	p.C112C(1)		central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						TCCTGAACTGCGTTAATAAGT	0.473													27	50					0	0	1	0	0	T	8902618	C	T	8902618	2	4	81	1	0	0	0	0	0	0	0	1	13418	776	27	1		1	RIMKLB	12	8902618	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	36023	8902618	124949277	9335	12951											
A2ML1	144568	broad.mit.edu	37	12	9013818	9013818	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:9013818A>G	ENST00000299698.7	+	28	3607	c.3427A>G	c.(3427-3429)Att>Gtt	p.I1143V	A2ML1_ENST00000539547.1_Missense_Mutation_p.I652V	NM_001282424.1|NM_144670.4	NP_001269353.1|NP_653271	B3KVV6	B3KVV6_HUMAN	alpha-2-macroglobulin-like 1	987						extracellular space	endopeptidase inhibitor activity			NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						GTTGGCTTACATTTTCTCCCT	0.478													12	105					0	0	1	0	0	G	9013818	A	G	9013818	3	3	81	1	0	0	0	0	1	0	0	0	5	217	8	3	3537	3	A2ML1	12	9013818	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	111200	9013818	124838077	9336	12952											
PHC1	1911	broad.mit.edu	37	12	9087028	9087028	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:9087028A>G	ENST00000433083.2	+	9	2217	c.2072A>G	c.(2071-2073)cAc>cGc	p.H691R	PHC1_ENST00000536844.1_Missense_Mutation_p.H342R|PHC1_ENST00000544916.1_Missense_Mutation_p.H736R|PHC1_ENST00000543824.1_Missense_Mutation_p.H736R			P78364	PHC1_HUMAN	polyhomeotic homolog 1 (Drosophila)	736					multicellular organismal development	PcG protein complex	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(5)|large_intestine(8)|liver(2)|lung(3)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	27						ATTCTCACCCACATCATTGAA	0.542													5	41					0	0	1	0	0	G	9087028	A	G	9087028	3	3	81	1	0	0	0	0	1	0	0	0	11864	159	6	3	2241	3	PHC1	12	9087028	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	73210	9087028	124764867	9337	12953											
PHC1	1911	broad.mit.edu	37	12	9089802	9089802	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:9089802G>A	ENST00000433083.2	+	12	2518	c.2373G>A	c.(2371-2373)cgG>cgA	p.R791R	PHC1_ENST00000536844.1_Silent_p.R442R|PHC1_ENST00000544916.1_Silent_p.R836R|PHC1_ENST00000543824.1_Silent_p.R836R			P78364	PHC1_HUMAN	polyhomeotic homolog 1 (Drosophila)	836					multicellular organismal development	PcG protein complex	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(5)|large_intestine(8)|liver(2)|lung(3)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	27						ATCAGTTCCGGCTGAAGAGGA	0.502													4	56					0	0	1	0	0	A	9089802	G	A	9089802	2	1	81	1	0	0	0	0	0	0	0	1	11864	1190	42	2		2	PHC1	12	9089802	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2774	9089802	124762093	9338	12954											
A2M	2	broad.mit.edu	37	12	9225448	9225448	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:9225448T>C	ENST00000318602.7	-	30	4083	c.3776A>G	c.(3775-3777)cAt>cGt	p.H1259R		NM_000014.4	NP_000005	P01023	A2MG_HUMAN	alpha-2-macroglobulin	1259					blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)	GGACAGAGCATGGAGAGCCAC	0.478													5	21					0	0	1	0	0	C	9225448	T	C	9225448	3	2	81	1	0	0	0	0	1	0	0	0	4	1464	51	3	676	3	A2M	12	9225448	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	135646	9225448	124626447	9339	12955											
PZP	5858	broad.mit.edu	37	12	9307414	9307414	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:9307414C>T	ENST00000261336.2	-	29	3600	c.3572G>A	c.(3571-3573)cGc>cAc	p.R1191H	PZP_ENST00000381997.2_Missense_Mutation_p.R977H	NM_002864.2	NP_002855.2			pregnancy-zone protein											breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						TCTCTGAGGGCGCTCCCAATG	0.468													7	22					0	0	1	0	0	T	9307414	C	T	9307414	3	4	81	1	0	0	0	0	1	0	0	0	12921	768	27	1	908	1	PZP	12	9307414	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	81966	9307414	124544481	9340	12956											
CLEC12A	160364	broad.mit.edu	37	12	10131982	10131982	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:10131982A>C	ENST00000304361.4	+	3	420	c.238A>C	c.(238-240)Aac>Cac	p.N80H	CLEC12A_ENST00000350667.4_Missense_Mutation_p.N47H|CLEC12A_ENST00000355690.4_Missense_Mutation_p.N90H|CLEC12A_ENST00000434319.2_Missense_Mutation_p.N80H	NM_138337.5|NM_201623.3	NP_612210.4|NP_963917.2	Q5QGZ9	CL12A_HUMAN	C-type lectin domain family 12, member A	80						integral to membrane|plasma membrane	receptor activity|sugar binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	16						CAAACTACAAAACATCAGTGA	0.333													7	11					0	0	1	0	0	C	10131982	A	C	10131982	3	2	81	1	0	0	0	0	1	0	0	0	3520	14	1	5	248	5	CLEC12A	12	10131982	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	824568	10131982	123719913	9341	12957											
CLEC12A	160364	broad.mit.edu	37	12	10133229	10133229	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:10133229G>T	ENST00000304361.4	+	4	610	c.428G>T	c.(427-429)aGc>aTc	p.S143I	CLEC12A_ENST00000350667.4_Missense_Mutation_p.S110I|CLEC12A_ENST00000355690.4_Missense_Mutation_p.S153I|CLEC12A_ENST00000434319.2_Missense_Mutation_p.S143I	NM_138337.5|NM_201623.3	NP_612210.4|NP_963917.2	Q5QGZ9	CL12A_HUMAN	C-type lectin domain family 12, member A	143	C-type lectin.					integral to membrane|plasma membrane	receptor activity|sugar binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	16						CATAAGGACAGCTGTTATTTC	0.393													42	64					3.77016e-25	4.98542e-25	1	1	0	T	10133229	G	T	10133229	3	4	81	1	0	0	0	0	1	0	0	0	3520	971	34	4	442	4	CLEC12A	12	10133229	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1247	10133229	123718666	9342	12958											
CLEC1B	51266	broad.mit.edu	37	12	10151675	10151675	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:10151675T>G	ENST00000428126.2	-	3	294	c.25A>C	c.(25-27)Acc>Ccc	p.T9P	CLEC1B_ENST00000298527.6_Missense_Mutation_p.T9P|CLEC1B_ENST00000348658.4_Missense_Mutation_p.T9P			Q9P126	CLC1B_HUMAN	C-type lectin domain family 1, member B	9					cell surface receptor linked signaling pathway|defense response	integral to plasma membrane	protein binding|sugar binding|transmembrane receptor activity			NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(12)|stomach(1)|urinary_tract(1)	19						ATATTTAAGGTGATGTATCCA	0.363													13	190					0	0	1	0	0	G	10151675	T	G	10151675	3	3	81	1	0	0	0	0	1	0	0	0	3529	1696	59	5	688	5	CLEC1B	12	10151675	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	18446	10151675	123700220	9343	12959											
CLEC12B	387837	broad.mit.edu	37	12	10168241	10168241	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:10168241T>C	ENST00000396502.1	+	5	723	c.595T>C	c.(595-597)Ttt>Ctt	p.F199L	RP11-133L14.5_ENST00000544225.1_RNA|CLEC12B_ENST00000338896.5_Missense_Mutation_p.F199L	NM_205852.2	NP_995324.2	Q2HXU8	CL12B_HUMAN	C-type lectin domain family 12, member B	199	C-type lectin.					integral to membrane|plasma membrane	receptor activity|sugar binding			central_nervous_system(2)|large_intestine(2)|lung(5)	9						ATTACTCATGTTTTCGTTCTT	0.428													43	71					0	0	1	0	0	C	10168241	T	C	10168241	3	2	81	1	0	0	0	0	1	0	0	0	3521	1725	60	3	613	3	CLEC12B	12	10168241	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	16566	10168241	123683654	9344	12960											
CLEC1A	51267	broad.mit.edu	37	12	10225962	10225962	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:10225962T>C	ENST00000315330.4	-	5	654	c.592A>G	c.(592-594)Aca>Gca	p.T198A	CLEC1A_ENST00000457018.2_Missense_Mutation_p.T165A|CLEC1A_ENST00000420265.2_Missense_Mutation_p.T106A	NM_016511.2	NP_057595.2	Q8NC01	CLC1A_HUMAN	C-type lectin domain family 1, member A	198	C-type lectin.				cell surface receptor linked signaling pathway|defense response	integral to plasma membrane|intracellular	sugar binding|transmembrane receptor activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	23						AAAAGCCCTGTCCAATAAGAG	0.463													27	24					0	0	1	0	0	C	10225962	T	C	10225962	3	2	81	1	0	0	0	0	1	0	0	0	3528	1667	58	3	258	3	CLEC1A	12	10225962	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	57721	10225962	123625933	9345	12961											
CLEC1A	51267	broad.mit.edu	37	12	10228126	10228126	+	Nonsense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:10228126T>A	ENST00000315330.4	-	4	582	c.520A>T	c.(520-522)Aag>Tag	p.K174*	CLEC1A_ENST00000457018.2_Nonsense_Mutation_p.K141*|CLEC1A_ENST00000420265.2_Nonsense_Mutation_p.K82*	NM_016511.2	NP_057595.2	Q8NC01	CLC1A_HUMAN	C-type lectin domain family 1, member A	174	C-type lectin.				cell surface receptor linked signaling pathway|defense response	integral to plasma membrane|intracellular	sugar binding|transmembrane receptor activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	23						TTGTTTATCTTCAGCATGGTA	0.378													33	66					0	0	1	0	0	A	10228126	T	A	10228126	4	1	81	1	0	0	0	0	0	1	0	0	3528	1792	62	5	334	5	CLEC1A	12	10228126	Nonsense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	2164	10228126	123623769	9346	12962											
KLRC1	3821	broad.mit.edu	37	12	10603615	10603615	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:10603615delT	ENST00000544822.1	-	3	528	c.141delA	c.(139-141)aaafs	p.K47fs	KLRC1_ENST00000536188.1_Frame_Shift_Del_p.K47fs|KLRC1_ENST00000359151.3_Frame_Shift_Del_p.K47fs|KLRC1_ENST00000347831.5_Frame_Shift_Del_p.K47fs|KLRC1_ENST00000408006.3_Frame_Shift_Del_p.K47fs	NM_213658.2	NP_998823	P26715	NKG2A_HUMAN	killer cell lectin-like receptor subfamily C, member 1	47					cell surface receptor linked signaling pathway|regulation of immune response	integral to plasma membrane	sugar binding|transmembrane receptor activity			NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|skin(1)	16						CCTGAGAAGCTTTTTGAAGGT	0.393													45	129	---	---	---	---						-	10603615	T	-	10603615	7	5	81	1	0	1	0	1	0	0	0	0	8458	1606	56	0	584	0	KLRC1	12	10603615	Frame_Shift_Del	DEL	T	TCGA-DU-6392-01A-11D-1705-08	375489	10603615	123248280	9347	12963											
STYK1	55359	broad.mit.edu	37	12	10772820	10772820	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:10772820A>C	ENST00000075503.3	-	11	1712	c.1192T>G	c.(1192-1194)Ttg>Gtg	p.L398V		NM_018423.2	NP_060893.2	Q6J9G0	STYK1_HUMAN	serine/threonine/tyrosine kinase 1	398						integral to membrane|plasma membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	26						GGTACCACCAACTCTGGTACT	0.532										HNSCC(73;0.22)			64	130					0	0	1	0	0	C	10772820	A	C	10772820	3	2	81	1	0	0	0	0	1	0	0	0	15415	40	2	5	80	5	STYK1	12	10772820	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	169205	10772820	123079075	9348	12964	60	2									
STYK1	55359	broad.mit.edu	37	12	10772829	10772829	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:10772829C>A	ENST00000075503.3	-	11	1703	c.1183G>T	c.(1183-1185)Gta>Tta	p.V395L		NM_018423.2	NP_060893.2	Q6J9G0	STYK1_HUMAN	serine/threonine/tyrosine kinase 1	395			V -> I (in a glioblastoma multiforme sample; somatic mutation).			integral to membrane|plasma membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity	p.V395I(1)		breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	26						AACTCTGGTACTTGTAACACA	0.552										HNSCC(73;0.22)			8	193					3.86212e-05	4.27865e-05	1	1	0	A	10772829	C	A	10772829	3	1	81	1	0	0	0	0	1	0	0	0	15415	565	20	4	89	4	STYK1	12	10772829	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	9	10772829	123079066	9349	12965	60	2									
TAS2R9	50835	broad.mit.edu	37	12	10961845	10961845	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:10961845C>T	ENST00000240691.2	-	1	922	c.830G>A	c.(829-831)aGc>aAc	p.S277N		NM_023917.2	NP_076406.1	Q9NYW1	TA2R9_HUMAN	taste receptor, type 2, member 9	277					sensory perception of taste	integral to membrane	taste receptor activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						GAATGAATGGCTTGATGGGAA	0.373													8	76					0	0	1	0	0	T	10961845	C	T	10961845	3	4	81	1	0	0	0	0	1	0	0	0	15645	797	28	2	112	2	TAS2R9	12	10961845	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	189016	10961845	122890050	9350	12966											
TAS2R9	50835	broad.mit.edu	37	12	10962216	10962216	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:10962216C>T	ENST00000240691.2	-	1	551	c.459G>A	c.(457-459)tgG>tgA	p.W153*		NM_023917.2	NP_076406.1	Q9NYW1	TA2R9_HUMAN	taste receptor, type 2, member 9	153					sensory perception of taste	integral to membrane	taste receptor activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						AAAGGTGATACCACATATCAT	0.378													7	44					0	0	1	0	0	T	10962216	C	T	10962216	4	4	81	1	0	0	0	0	0	1	0	0	15645	508	18	2	483	2	TAS2R9	12	10962216	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	371	10962216	122889679	9351	12967											
TAS2R9	50835	broad.mit.edu	37	12	10962280	10962280	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:10962280G>A	ENST00000240691.2	-	1	487	c.395C>T	c.(394-396)gCg>gTg	p.A132V		NM_023917.2	NP_076406.1	Q9NYW1	TA2R9_HUMAN	taste receptor, type 2, member 9	132					sensory perception of taste	integral to membrane	taste receptor activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						CAGAAGAATCGCAAGCATGAC	0.358													17	33					0	0	1	0	0	A	10962280	G	A	10962280	3	1	81	1	0	0	0	0	1	0	0	0	15645	1087	38	1	547	1	TAS2R9	12	10962280	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	64	10962280	122889615	9352	12968											
TAS2R10	50839	broad.mit.edu	37	12	10978281	10978282	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:10978281_10978282insA	ENST00000240619.2	-	1	675_676	c.587_588insT	c.(586-588)ttafs	p.L196fs		NM_023921.1	NP_076410.1	Q9NYW0	T2R10_HUMAN	taste receptor, type 2, member 10	196					sensory perception of taste	integral to membrane	taste receptor activity			breast(1)|central_nervous_system(1)|large_intestine(7)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17						GGGAAATGATTAAAAAAATACA	0.347													43	88	---	---	---	---						A	10978282	-	A	10978281	7	5	81	1	0	1	1	0	0	0	0	0	15623	1751	61	0	339	0	TAS2R10	12	10978281	Frame_Shift_Ins	INS	-	TCGA-DU-6392-01A-11D-1705-08	16001	10978281	122873614	9353	12969	61	2									
TAS2R10	50839	broad.mit.edu	37	12	10978290	10978290	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:10978290A>G	ENST00000240619.2	-	1	667	c.579T>C	c.(577-579)tgT>tgC	p.C193C		NM_023921.1	NP_076410.1	Q9NYW0	T2R10_HUMAN	taste receptor, type 2, member 10	193					sensory perception of taste	integral to membrane	taste receptor activity			breast(1)|central_nervous_system(1)|large_intestine(7)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17						TTAAAAAAATACATGTAATTA	0.363													10	108					0	0	1	0	0	G	10978290	A	G	10978290	2	3	81	1	0	0	0	0	0	0	0	1	15623	389	14	3		3	TAS2R10	12	10978290	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	9	10978290	122873605	9354	12970	61	2									
TAS2R10	50839	broad.mit.edu	37	12	10978450	10978450	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:10978450G>A	ENST00000240619.2	-	1	507	c.419C>T	c.(418-420)tCg>tTg	p.S140L		NM_023921.1	NP_076410.1	Q9NYW0	T2R10_HUMAN	taste receptor, type 2, member 10	140					sensory perception of taste	integral to membrane	taste receptor activity			breast(1)|central_nervous_system(1)|large_intestine(7)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17						ATTAAGTAACGATGAAATAAG	0.308													17	30					0	0	1	0	0	A	10978450	G	A	10978450	3	1	81	1	0	0	0	0	1	0	0	0	15623	1059	37	1	508	1	TAS2R10	12	10978450	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	160	10978450	122873445	9355	12971											
TAS2R13	50838	broad.mit.edu	37	12	11061323	11061323	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:11061323G>T	ENST00000390677.2	-	1	838	c.575C>A	c.(574-576)aCt>aAt	p.T192N	PRR4_ENST00000536668.1_Intron	NM_023920.2	NP_076409.1	Q9NYV9	T2R13_HUMAN	taste receptor, type 2, member 13	192					sensory perception of taste	integral to membrane	taste receptor activity			breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1)	9						GAAGGCCACAGTAAATGGTGT	0.388													14	81					0.000151284	0.000165917	1	1	0	T	11061323	G	T	11061323	3	4	81	1	0	0	0	0	1	0	0	0	15624	1029	36	4	340	4	TAS2R13	12	11061323	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	82873	11061323	122790572	9356	12972											
TAS2R19	259294	broad.mit.edu	37	12	11174505	11174505	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:11174505C>A	ENST00000390673.2	-	1	714	c.666G>T	c.(664-666)aaG>aaT	p.K222N	PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron	NM_176888.1	NP_795369.1	P59542	T2R19_HUMAN	taste receptor, type 2, member 19	222					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			breast(1)|cervix(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|stomach(1)	17						TTATATGGACCTTGGTGCTGG	0.403													7	167					0.00198382	0.00209725	1	1	0	A	11174505	C	A	11174505	3	1	81	1	0	0	0	0	1	0	0	0	15627	680	24	4	236	4	TAS2R19	12	11174505	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	113182	11174505	122677390	9357	12973											
TAS2R19	259294	broad.mit.edu	37	12	11174713	11174713	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:11174713A>C	ENST00000390673.2	-	1	506	c.458T>G	c.(457-459)gTg>gGg	p.V153G	PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron	NM_176888.1	NP_795369.1	P59542	T2R19_HUMAN	taste receptor, type 2, member 19	153					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			breast(1)|cervix(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|stomach(1)	17						TTTTGTCCACACTCTCTCATC	0.388													44	68					0	0	1	0	0	C	11174713	A	C	11174713	3	2	81	1	0	0	0	0	1	0	0	0	15627	159	6	5	444	5	TAS2R19	12	11174713	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	208	11174713	122677182	9358	12974											
TAS2R46	259292	broad.mit.edu	37	12	11214399	11214399	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:11214399C>A	ENST00000533467.1	-	1	494	c.495G>T	c.(493-495)aaG>aaT	p.K165N	PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron	NM_176887.2	NP_795368.2	P59540	T2R46_HUMAN	taste receptor, type 2, member 46	165					sensory perception of taste	cilium membrane|integral to membrane	G-protein coupled receptor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(49;0.0344)	BRCA - Breast invasive adenocarcinoma(232;0.196)		TCAGTTTGATCTTCCAAGTCA	0.363													26	46					1.55469e-16	1.99639e-16	1	1	0	A	11214399	C	A	11214399	3	1	81	1	0	0	0	0	1	0	0	0	15639	912	32	4	438	4	TAS2R46	12	11214399	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	39686	11214399	122637496	9359	12975											
TAS2R30	259293	broad.mit.edu	37	12	11286804	11286804	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:11286804C>A	ENST00000539585.1	-	1	439	c.40G>T	c.(40-42)Gtg>Ttg	p.V14L	PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron	NM_001097643.1	NP_001091112.1			taste receptor, type 2, member 30											autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	13						AATATAACCACTATTAGAATG	0.328													10	20					5.50884e-06	6.24461e-06	1	1	0	A	11286804	C	A	11286804	3	1	81	1	0	0	0	0	1	0	0	0	15630	565	20	4	923	4	TAS2R30	12	11286804	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	72405	11286804	122565091	9360	12976											
PRB4	5545	broad.mit.edu	37	12	11463274	11463274	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:11463274C>A	ENST00000279575.1	-	1	92	c.59G>T	c.(58-60)aGt>aTt	p.S20I	PRB4_ENST00000445719.2_Missense_Mutation_p.S20I|PRB4_ENST00000535904.1_Missense_Mutation_p.S20I	NM_001261399.1|NM_002723.4	NP_001248328.1|NP_002714.2	P10163	PRB4_HUMAN	proline-rich protein BstNI subfamily 4	20						extracellular region				breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|skin(4)|upper_aerodigestive_tract(3)	30						TTTACCTTCACTTGAACTCTC	0.527										HNSCC(22;0.051)			39	103					4.44401e-20	5.79529e-20	1	1	0	A	11463274	C	A	11463274	3	1	81	1	0	0	0	0	1	0	0	0	12497	565	20	4	696	4	PRB4	12	11463274	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	176470	11463274	122388621	9361	12977											
ETV6	2120	broad.mit.edu	37	12	12037475	12037475	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:12037475G>A	ENST00000396373.4	+	6	1380	c.1106G>A	c.(1105-1107)cGg>cAg	p.R369Q		NM_001987.4	NP_001978.1	P41212	ETV6_HUMAN	ets variant 6	369						cytoplasm|nucleolus	protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.R369L(1)	ETV6/JAK2(11)|ETV6/ITPR2(2)|ETV6/NTRK3(238)	breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(15)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(2;1.88e-12)|Acute lymphoblastic leukemia(2;6.91e-39)|all_hematologic(2;2.7e-36)				AAAATATTCCGGATAGTGGAT	0.458			T	"NTRK3, RUNX1, PDGFRB, ABL1, MN1, ABL2, FACL6, CHIC2, ARNT, JAK2, EVI1, CDX2, STL, HLXB9, MDS2, PER1, SYK, TTL, FGFR3, PAX5"	"congenital fibrosarcoma, multiple leukemia and lymphoma,  secretory breast, MDS, ALL"								26	76					0	0	1	0	0	A	12037475	G	A	12037475	3	1	81	1	0	0	0	0	1	0	0	0	5311	1116	39	1	1128	1	ETV6	12	12037475	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	574201	12037475	121814420	9362	12978											
ETV6	2120	broad.mit.edu	37	12	12038938	12038938	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:12038938C>T	ENST00000396373.4	+	7	1505	c.1231C>T	c.(1231-1233)Cca>Tca	p.P411S		NM_001987.4	NP_001978.1	P41212	ETV6_HUMAN	ets variant 6	411						cytoplasm|nucleolus	protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		ETV6/JAK2(11)|ETV6/ITPR2(2)|ETV6/NTRK3(238)	breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(15)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(2;1.88e-12)|Acute lymphoblastic leukemia(2;6.91e-39)|all_hematologic(2;2.7e-36)				CAGGAAGGAGCCAGGACAAAG	0.448			T	"NTRK3, RUNX1, PDGFRB, ABL1, MN1, ABL2, FACL6, CHIC2, ARNT, JAK2, EVI1, CDX2, STL, HLXB9, MDS2, PER1, SYK, TTL, FGFR3, PAX5"	"congenital fibrosarcoma, multiple leukemia and lymphoma,  secretory breast, MDS, ALL"								48	76					0	0	1	0	0	T	12038938	C	T	12038938	3	4	81	1	0	0	0	0	1	0	0	0	5311	739	26	2	1257	2	ETV6	12	12038938	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1463	12038938	121812957	9363	12979											
LRP6	4040	broad.mit.edu	37	12	12288148	12288148	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:12288148T>C	ENST00000261349.4	-	17	3770	c.3694A>G	c.(3694-3696)Atg>Gtg	p.M1232V	LRP6_ENST00000543091.1_Missense_Mutation_p.M1232V|LRP6_ENST00000540415.1_5'UTR|BCL2L14_ENST00000396369.1_Intron	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	1232	EGF-like 4.				cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				ACCAGGTGCATGGGGCAAGAA	0.423													10	100					0	0	1	0	0	C	12288148	T	C	12288148	3	2	81	1	0	0	0	0	1	0	0	0	9007	1464	51	3	1175	3	LRP6	12	12288148	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	249210	12288148	121563747	9364	12980											
LRP6	4040	broad.mit.edu	37	12	12291271	12291271	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:12291271G>T	ENST00000261349.4	-	16	3671	c.3595C>A	c.(3595-3597)Ctt>Att	p.L1199I	LRP6_ENST00000543091.1_Missense_Mutation_p.L1199I|BCL2L14_ENST00000396369.1_Intron	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	1199	Beta-propeller 4.				cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				TATTCTTGAAGGTTCAGCTCC	0.353													11	142					9.05144e-12	1.12483e-11	1	1	0	T	12291271	G	T	12291271	3	4	81	1	0	0	0	0	1	0	0	0	9007	1000	35	4	1278	4	LRP6	12	12291271	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	3123	12291271	121560624	9365	12981											
LRP6	4040	broad.mit.edu	37	12	12312848	12312848	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:12312848G>A	ENST00000261349.4	-	11	2406	c.2330C>T	c.(2329-2331)gCa>gTa	p.A777V	LRP6_ENST00000543091.1_Missense_Mutation_p.A777V	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	777	Beta-propeller 3.				cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				TCCATCCATTGCAGCTCTGTC	0.368													12	94					0	0	1	0	0	A	12312848	G	A	12312848	3	1	81	1	0	0	0	0	1	0	0	0	9007	1319	46	2	2563	2	LRP6	12	12312848	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	21577	12312848	121539047	9366	12982											
LRP6	4040	broad.mit.edu	37	12	12397304	12397304	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:12397304G>T	ENST00000261349.4	-	2	417	c.341C>A	c.(340-342)tCt>tAt	p.S114Y	LRP6_ENST00000543091.1_Missense_Mutation_p.S114Y	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	114	Beta-propeller 1.				cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				ATTAGTTTCAGAATCTGTCCA	0.393													4	52					0.014758	0.0152304	1	1	0	T	12397304	G	T	12397304	3	4	81	1	0	0	0	0	1	0	0	0	9007	942	33	4	4588	4	LRP6	12	12397304	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	84456	12397304	121454591	9367	12983											
DUSP16	80824	broad.mit.edu	37	12	12630736	12630736	+	Missense_Mutation	SNP	G	G	T	rs144222400	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:12630736G>T	ENST00000228862.2	-	7	1660	c.1029C>A	c.(1027-1029)gaC>gaA	p.D343E	DUSP16_ENST00000298573.4_3'UTR	NM_030640.2	NP_085143.1	Q9BY84	DUS16_HUMAN	dual specificity phosphatase 16	343					inactivation of MAPK activity|MAPK export from nucleus|MAPK phosphatase export from nucleus, leptomycin B sensitive	cytoplasmic membrane-bounded vesicle|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			endometrium(7)|kidney(2)|large_intestine(6)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(3)	26		Prostate(47;0.0687)		BRCA - Breast invasive adenocarcinoma(232;0.0203)		AGGTAGCAGAGTCGGCACAGG	0.632													4	43					0.00024832	0.000269806	1	1	0	T	12630736	G	T	12630736	3	4	81	1	0	0	0	0	1	0	0	0	4842	1020	36	4	972	4	DUSP16	12	12630736	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	233432	12630736	121221159	9368	12984											
DUSP16	80824	broad.mit.edu	37	12	12630810	12630810	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:12630810G>A	ENST00000228862.2	-	7	1586	c.955C>T	c.(955-957)Cca>Tca	p.P319S	DUSP16_ENST00000298573.4_3'UTR	NM_030640.2	NP_085143.1	Q9BY84	DUS16_HUMAN	dual specificity phosphatase 16	319					inactivation of MAPK activity|MAPK export from nucleus|MAPK phosphatase export from nucleus, leptomycin B sensitive	cytoplasmic membrane-bounded vesicle|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			endometrium(7)|kidney(2)|large_intestine(6)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(3)	26		Prostate(47;0.0687)		BRCA - Breast invasive adenocarcinoma(232;0.0203)		GGTTCATTTGGCTTCTCCAGG	0.542													30	58					0	0	1	0	0	A	12630810	G	A	12630810	3	1	81	1	0	0	0	0	1	0	0	0	4842	1203	42	2	1046	2	DUSP16	12	12630810	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	74	12630810	121221085	9369	12985											
DDX47	51202	broad.mit.edu	37	12	12976874	12976874	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:12976874A>C	ENST00000358007.3	+	8	843	c.821A>C	c.(820-822)aAt>aCt	p.N274T	DDX47_ENST00000352940.4_Intron	NM_016355.3	NP_057439.2	Q9H0S4	DDX47_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 47	274	Helicase C-terminal.					nucleolus	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		Prostate(47;0.0526)		BRCA - Breast invasive adenocarcinoma(232;0.0354)		AGCACCTGTAATAATACCCAG	0.403													49	68					0	0	1	0	0	C	12976874	A	C	12976874	3	2	81	1	0	0	0	0	1	0	0	0	4388	101	4	4	851	4	DDX47	12	12976874	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	346064	12976874	120875021	9370	12986											
GSG1	83445	broad.mit.edu	37	12	13238070	13238070	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:13238070T>G	ENST00000337630.6	-	6	813	c.746A>C	c.(745-747)aAg>aCg	p.K249T	GSG1_ENST00000537302.1_Missense_Mutation_p.K221T|GSG1_ENST00000351606.6_3'UTR|GSG1_ENST00000432710.2_Missense_Mutation_p.K262T|GSG1_ENST00000396302.3_3'UTR|GSG1_ENST00000324458.8_Missense_Mutation_p.K285T|GSG1_ENST00000457134.2_Missense_Mutation_p.K198T|GSG1_ENST00000396310.2_Missense_Mutation_p.K218T	NM_153823.3	NP_722545.2	Q2KHT4	GSG1_HUMAN	germ cell associated 1	272						endoplasmic reticulum membrane|integral to membrane				endometrium(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(1)	10		Prostate(47;0.183)		BRCA - Breast invasive adenocarcinoma(232;0.15)		CGGGTTTTCCTTGAAGCTCTT	0.557													19	21					0	0	1	0	0	G	13238070	T	G	13238070	3	3	81	1	0	0	0	0	1	0	0	0	6861	1609	56	5	238	5	GSG1	12	13238070	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	261196	13238070	120613825	9371	12987											
GSG1	83445	broad.mit.edu	37	12	13241674	13241674	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:13241674G>A	ENST00000396302.3	-	3	693	c.495C>T	c.(493-495)ggC>ggT	p.G165G	GSG1_ENST00000537302.1_Intron|GSG1_ENST00000351606.6_Silent_p.G201G|GSG1_ENST00000432710.2_Intron|GSG1_ENST00000324458.8_Intron|GSG1_ENST00000457134.2_Intron|GSG1_ENST00000396310.2_Intron|GSG1_ENST00000337630.6_Intron	NM_031289.3	NP_112579.2	Q2KHT4	GSG1_HUMAN	germ cell associated 1	0						endoplasmic reticulum membrane|integral to membrane				endometrium(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(1)	10		Prostate(47;0.183)		BRCA - Breast invasive adenocarcinoma(232;0.15)		ACACATACTTGCCACAAAGCC	0.532													12	20					0	0	1	0	0	A	13241674	G	A	13241674	2	1	81	1	0	0	0	0	0	0	0	1	6861	1306	46	2		2	GSG1	12	13241674	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	3604	13241674	120610221	9372	12988											
EMP1	2012	broad.mit.edu	37	12	13366719	13366719	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:13366719C>T	ENST00000256951.5	+	4	479	c.280C>T	c.(280-282)Cgg>Tgg	p.R94W	EMP1_ENST00000431267.2_Missense_Mutation_p.R27W|EMP1_ENST00000537612.1_Intron|EMP1_ENST00000544053.1_Missense_Mutation_p.R27W|EMP1_ENST00000396301.3_Missense_Mutation_p.R94W|EMP1_ENST00000542289.1_Intron	NM_001423.2	NP_001414.1	P54849	EMP1_HUMAN	epithelial membrane protein 1	94					cell growth|cell proliferation|epidermis development	integral to membrane|membrane fraction							Prostate(47;0.194)		BRCA - Breast invasive adenocarcinoma(232;0.153)		GAAGGGAAACCGGTTCTTCCT	0.498													37	59					0	0	1	0	0	T	13366719	C	T	13366719	3	4	81	1	0	0	0	0	1	0	0	0	5129	643	23	1	290	1	EMP1	12	13366719	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	125045	13366719	120485176	9373	12989											
PLBD1	79887	broad.mit.edu	37	12	14706205	14706205	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:14706205G>A	ENST00000240617.5	-	2	909	c.257C>T	c.(256-258)gCt>gTt	p.A86V		NM_024829.5	NP_079105.4	Q6P4A8	PLBL1_HUMAN	phospholipase B domain containing 1	86					lipid catabolic process	extracellular region	hydrolase activity			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	16						GCCATAGCCAGCTCTGATCTC	0.478													8	34					0	0	1	0	0	A	14706205	G	A	14706205	3	1	81	1	0	0	0	0	1	0	0	0	12073	971	34	2	1444	2	PLBD1	12	14706205	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1339486	14706205	119145690	9374	12990											
GUCY2C	2984	broad.mit.edu	37	12	14775117	14775117	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:14775117G>T	ENST00000261170.3	-	22	2559	c.2423C>A	c.(2422-2424)tCt>tAt	p.S808Y		NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)	808					intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51						CTCCTTCAGAGACTTTACCAC	0.388													4	34					0.00909568	0.00944708	1	1	0	T	14775117	G	T	14775117	3	4	81	1	0	0	0	0	1	0	0	0	6937	942	33	4	822	4	GUCY2C	12	14775117	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	68912	14775117	119076778	9375	12991											
GUCY2C	2984	broad.mit.edu	37	12	14805895	14805895	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:14805895G>A	ENST00000261170.3	-	13	1660	c.1524C>T	c.(1522-1524)taC>taT	p.Y508Y		NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)	508	Protein kinase.				intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51						CCTTTTTGTCGTATTTGCACT	0.478													56	89					0	0	1	0	0	A	14805895	G	A	14805895	2	1	81	1	0	0	0	0	0	0	0	1	6937	1140	40	1		1	GUCY2C	12	14805895	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	30778	14805895	119046000	9376	12992											
GUCY2C	2984	broad.mit.edu	37	12	14840925	14840925	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:14840925C>T	ENST00000261170.3	-	2	426	c.290G>A	c.(289-291)aGt>aAt	p.S97N	RP11-174G6.1_ENST00000501178.2_RNA	NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)	97					intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51						ACAGGTGCTACTCCGGCAGTC	0.483													28	31					0	0	1	0	0	T	14840925	C	T	14840925	3	4	81	1	0	0	0	0	1	0	0	0	6937	565	20	2	3035	2	GUCY2C	12	14840925	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	35030	14840925	119010970	9377	12993											
WBP11	51729	broad.mit.edu	37	12	14952649	14952649	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:14952649C>T	ENST00000261167.2	-	4	343	c.110G>A	c.(109-111)cGc>cAc	p.R37H		NM_016312.2	NP_057396.1	Q9Y2W2	WBP11_HUMAN	WW domain binding protein 11	37	Required for nuclear import (By similarity).				mRNA processing|RNA splicing|rRNA processing	cytoplasm	single-stranded DNA binding|WW domain binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)	30						AACCATCATGCGCTGTTTTTT	0.368													12	16					0	0	1	0	0	T	14952649	C	T	14952649	3	4	81	1	0	0	0	0	1	0	0	0	17318	768	27	1	1851	1	WBP11	12	14952649	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	111724	14952649	118899246	9378	12994											
C12orf60	144608	broad.mit.edu	37	12	14976519	14976519	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:14976519C>T	ENST00000330828.2	+	2	854	c.650C>T	c.(649-651)gCt>gTt	p.A217V	C12orf60_ENST00000527783.1_Intron	NM_175874.3	NP_787070.2	Q5U649	CL060_HUMAN	chromosome 12 open reading frame 60	217										breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2)	9						ATTGTCAAGGCTATGGGACCA	0.383													5	43					0	0	1	0	0	T	14976519	C	T	14976519	3	4	81	1	0	0	0	0	1	0	0	0	1709	797	28	2	652	2	C12orf60	12	14976519	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	23870	14976519	118875376	9379	12995											
MGP	4256	broad.mit.edu	37	12	15035207	15035207	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:15035207C>A	ENST00000539261.1	-	4	312	c.178G>T	c.(178-180)Gaa>Taa	p.E60*	MGP_ENST00000228938.5_Nonsense_Mutation_p.E85*|C12orf60_ENST00000527783.1_Intron	NM_000900.3	NP_000891.2	P08493	MGP_HUMAN	matrix Gla protein	60	Gla.				cartilage condensation|cell differentiation|ossification|regulation of bone mineralization	proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent|structural constituent of bone			large_intestine(1)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	7						TTAGAGCGTTCTCGGATCCTA	0.418													11	100					0.000978159	0.00104673	1	1	0	A	15035207	C	A	15035207	4	1	81	1	0	0	0	0	0	1	0	0	9607	922	32	4	137	4	MGP	12	15035207	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	58688	15035207	118816688	9380	12996											
RERG	85004	broad.mit.edu	37	12	15262092	15262092	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:15262092C>T	ENST00000256953.2	-	5	888	c.552G>A	c.(550-552)acG>acA	p.T184T	RERG_ENST00000538313.1_Silent_p.T184T|RERG_ENST00000536465.1_Silent_p.T184T|RERG_ENST00000546331.1_Silent_p.T165T	NM_032918.2	NP_116307.1	Q96A58	RERG_HUMAN	RAS-like, estrogen-regulated, growth inhibitor	184					negative regulation of cell growth|negative regulation of cell proliferation|response to hormone stimulus|small GTPase mediated signal transduction	cytosol|membrane|nucleus	estrogen receptor binding|GDP binding|GTP binding|GTPase activity			NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16						GCTTGACATGCGTGGTGGAGC	0.517													8	99					0	0	1	0	0	T	15262092	C	T	15262092	2	4	81	1	0	0	0	0	0	0	0	1	13284	755	27	1		1	RERG	12	15262092	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	226885	15262092	118589803	9381	12997											
PTPRO	5800	broad.mit.edu	37	12	15654589	15654589	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:15654589G>A	ENST00000281171.4	+	5	1027	c.697G>A	c.(697-699)Gta>Ata	p.V233I	PTPRO_ENST00000543886.1_Missense_Mutation_p.V233I|PTPRO_ENST00000348962.2_Missense_Mutation_p.V233I	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN	protein tyrosine phosphatase, receptor type, O	233						integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.V233I(1)		NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				CGTTCGTATCGTAAACTTGAA	0.338													23	36					0	0	1	0	0	A	15654589	G	A	15654589	3	1	81	1	0	0	0	0	1	0	0	0	12861	1145	40	1	715	1	PTPRO	12	15654589	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	392497	15654589	118197306	9382	12998											
PTPRO	5800	broad.mit.edu	37	12	15668485	15668485	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:15668485G>T	ENST00000281171.4	+	8	1848	c.1518G>T	c.(1516-1518)caG>caT	p.Q506H	PTPRO_ENST00000543886.1_Missense_Mutation_p.Q506H|PTPRO_ENST00000348962.2_Missense_Mutation_p.Q506H	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN	protein tyrosine phosphatase, receptor type, O	506	Fibronectin type-III 5.					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				CCCAGTACCAGGTTGTAATAT	0.413													9	83					5.4927e-09	6.5834e-09	1	1	0	T	15668485	G	T	15668485	3	4	81	1	0	0	0	0	1	0	0	0	12861	991	35	4	1548	4	PTPRO	12	15668485	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	13896	15668485	118183410	9383	12999											
EPS8	2059	broad.mit.edu	37	12	15774360	15774360	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:15774360C>T	ENST00000281172.5	-	21	2796	c.2360G>A	c.(2359-2361)aGc>aAc	p.S787N	EPS8_ENST00000540613.1_Missense_Mutation_p.S527N|EPS8_ENST00000542903.1_Missense_Mutation_p.S527N|EPS8_ENST00000543612.1_Missense_Mutation_p.S787N|EPS8_ENST00000543523.1_Missense_Mutation_p.S787N	NM_004447.5	NP_004438.3	Q12929	EPS8_HUMAN	epidermal growth factor receptor pathway substrate 8	787					cell proliferation|epidermal growth factor receptor signaling pathway		SH3/SH2 adaptor activity			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33		all_epithelial(100;1.87e-05)|Breast(259;0.000286)|Hepatocellular(102;0.244)		BRCA - Breast invasive adenocarcinoma(232;4.29e-05)|GBM - Glioblastoma multiforme(207;0.0264)		GCTGCCACTGCTATCCTGAAA	0.418													5	16					0	0	1	0	0	T	15774360	C	T	15774360	3	4	81	1	0	0	0	0	1	0	0	0	5222	797	28	2	112	2	EPS8	12	15774360	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	105875	15774360	118077535	9384	13000											
RERGL	79785	broad.mit.edu	37	12	18234205	18234205	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:18234205C>A	ENST00000229002.2	-	6	744	c.538G>T	c.(538-540)Gaa>Taa	p.E180*	RERGL_ENST00000538724.1_Nonsense_Mutation_p.E179*	NM_024730.2	NP_079006.1	Q9H628	RERGL_HUMAN	RERG/RAS-like	180	Small GTPase-like.				signal transduction	membrane	GTP binding|GTPase activity			endometrium(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	17						CGTCTCTTTTCTTTGAGTTTG	0.393													16	41					3.41278e-10	4.16681e-10	1	1	0	A	18234205	C	A	18234205	4	1	81	1	0	0	0	0	0	1	0	0	13285	922	32	4	83	4	RERGL	12	18234205	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2459845	18234205	115617690	9385	13001											
PIK3C2G	5288	broad.mit.edu	37	12	18435201	18435201	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:18435201C>A	ENST00000433979.1	+	2	302	c.186C>A	c.(184-186)acC>acA	p.T62T	PIK3C2G_ENST00000535651.1_Silent_p.T62T|PIK3C2G_ENST00000266497.5_Silent_p.T62T|PIK3C2G_ENST00000538779.1_Silent_p.T62T|RERGL_ENST00000541632.1_Intron	NM_004570.4	NP_004561.3	O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	62					cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				ATGAAAACACCTTTTTTGTGC	0.408													5	49					1.23904e-05	1.39156e-05	1	1	0	A	18435201	C	A	18435201	2	1	81	1	0	0	0	0	0	0	0	1	11959	668	24	4		4	PIK3C2G	12	18435201	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	200996	18435201	115416694	9386	13002											
PIK3C2G	5288	broad.mit.edu	37	12	18691180	18691180	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:18691180A>G	ENST00000433979.1	+	24	3407	c.3291A>G	c.(3289-3291)gaA>gaG	p.E1097E	PIK3C2G_ENST00000266497.5_Silent_p.E1097E|PIK3C2G_ENST00000538779.1_Silent_p.E1138E	NM_004570.4	NP_004561.3	O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	1097	PI3K/PI4K.				cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				ATTTTGTGGAACTTTGCTGTC	0.383													22	30					0	0	1	0	0	G	18691180	A	G	18691180	2	3	81	1	0	0	0	0	0	0	0	1	11959	40	2	3		3	PIK3C2G	12	18691180	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	255979	18691180	115160715	9387	13003											
PLCZ1	89869	broad.mit.edu	37	12	18837124	18837124	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:18837124A>C	ENST00000447925.2	-	14	1944	c.1675T>G	c.(1675-1677)Tta>Gta	p.L559V	PLCZ1_ENST00000539875.1_Missense_Mutation_p.L368V|PLCZ1_ENST00000538330.1_Missense_Mutation_p.L343V|PLCZ1_ENST00000266505.7_Missense_Mutation_p.L561V|PLCZ1_ENST00000541695.1_3'UTR|PLCZ1_ENST00000534932.1_Missense_Mutation_p.L42V|PLCZ1_ENST00000435379.1_Missense_Mutation_p.L366V	NM_033123.3	NP_149114.2	Q86YW0	PLCZ1_HUMAN	phospholipase C, zeta 1	561	C2.				intracellular signal transduction|lipid catabolic process|multicellular organismal development	nucleus|perinuclear region of cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)					CCTGCTATTAAACCTTGACCT	0.333													23	35					0	0	1	0	0	C	18837124	A	C	18837124	3	2	81	1	0	0	0	0	1	0	0	0	12092	11	1	5	153	5	PLCZ1	12	18837124	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	145944	18837124	115014771	9388	13004											
PLCZ1	89869	broad.mit.edu	37	12	18841024	18841025	+	Splice_Site	INS	-	-	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:18841024_18841025insT	ENST00000447925.2	-	13	1852_1853	c.1583_1584insA	c.(1582-1584)aat>aaAt	p.N528fs	PLCZ1_ENST00000541695.1_Splice_Site_p.N393fs|PLCZ1_ENST00000534932.1_Splice_Site_p.N11fs|PLCZ1_ENST00000539875.1_Splice_Site_p.N337fs|PLCZ1_ENST00000538330.1_Splice_Site_p.N312fs|PLCZ1_ENST00000266505.7_Splice_Site_p.N530fs|PLCZ1_ENST00000435379.1_Splice_Site_p.N335fs	NM_033123.3	NP_149114.2	Q86YW0	PLCZ1_HUMAN	phospholipase C, zeta 1	530	C2.				intracellular signal transduction|lipid catabolic process|multicellular organismal development	nucleus|perinuclear region of cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)					GGAGCTCACCATTTTTTTTAAT	0.292													9	98	---	---	---	---						T	18841025	-	T	18841024	8	5	81	1	0	1	1	0	0	0	1	0	12092	231	8	0	248	0	PLCZ1	12	18841024	Splice_Site	INS	-	TCGA-DU-6392-01A-11D-1705-08	3900	18841024	115010871	9389	13005											
CAPZA3	93661	broad.mit.edu	37	12	18891391	18891391	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:18891391C>A	ENST00000317658.3	+	1	347	c.189C>A	c.(187-189)ctC>ctA	p.L63L		NM_033328.2	NP_201585.1	Q96KX2	CAZA3_HUMAN	capping protein (actin filament) muscle Z-line, alpha 3	63					actin cytoskeleton organization|actin filament capping	F-actin capping protein complex	actin binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)	19	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)	Hepatocellular(102;0.194)				CTGTACCACTCTGCATCGATG	0.433													19	47					5.35267e-07	6.21096e-07	1	1	0	A	18891391	C	A	18891391	2	1	81	1	0	0	0	0	0	0	0	1	2660	900	32	4		4	CAPZA3	12	18891391	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	50367	18891391	114960504	9390	13006											
CAPZA3	93661	broad.mit.edu	37	12	18891730	18891730	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:18891730C>T	ENST00000317658.3	+	1	686	c.528C>T	c.(526-528)ttC>ttT	p.F176F		NM_033328.2	NP_201585.1	Q96KX2	CAZA3_HUMAN	capping protein (actin filament) muscle Z-line, alpha 3	176					actin cytoskeleton organization|actin filament capping	F-actin capping protein complex	actin binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)	19	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)	Hepatocellular(102;0.194)				AATGGATTTTCCAAGTTAACC	0.388													7	69					0	0	1	0	0	T	18891730	C	T	18891730	2	4	81	1	0	0	0	0	0	0	0	1	2660	854	30	2		2	CAPZA3	12	18891730	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	339	18891730	114960165	9391	13007											
PDE3A	5139	broad.mit.edu	37	12	20803455	20803455	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:20803455C>A	ENST00000359062.3	+	14	2886	c.2846C>A	c.(2845-2847)gCt>gAt	p.A949D	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	949	Catalytic (By similarity).				lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	ATAAAGTTGGCTGATATCAAT	0.333													34	52					1.836e-18	2.38158e-18	1	1	0	A	20803455	C	A	20803455	3	1	81	1	0	0	0	0	1	0	0	0	11684	797	28	4	2900	4	PDE3A	12	20803455	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1911725	20803455	113048440	9392	13008											
SLCO1B3	28234	broad.mit.edu	37	12	21015771	21015771	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:21015771T>C	ENST00000381545.3	+	8	929	c.710T>C	c.(709-711)aTt>aCt	p.I237T	SLCO1B3_ENST00000553473.1_Missense_Mutation_p.I237T|SLCO1B3_ENST00000261196.2_Missense_Mutation_p.I237T|SLCO1B7_ENST00000554957.1_Intron|LST3_ENST00000381541.3_Intron|LST3_ENST00000540229.1_Missense_Mutation_p.I237T	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family, member 1B3	237					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)					TACGTGGATATTGGATATGTA	0.358													22	48					0	0	1	0	0	C	21015771	T	C	21015771	3	2	81	1	0	0	0	0	1	0	0	0	14779	1493	52	3	732	3	SLCO1B3	12	21015771	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	212316	21015771	112836124	9393	13009											
SLCO1B3	28234	broad.mit.edu	37	12	21030736	21030736	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:21030736C>T	ENST00000381545.3	+	10	1220	c.1001C>T	c.(1000-1002)aCc>aTc	p.T334I	SLCO1B3_ENST00000553473.1_Missense_Mutation_p.T334I|SLCO1B3_ENST00000261196.2_Missense_Mutation_p.T334I|SLCO1B7_ENST00000554957.1_Intron|LST3_ENST00000381541.3_Intron|LST3_ENST00000540229.1_Missense_Mutation_p.T334I	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family, member 1B3	334					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)					AGCATCCTTACCAATCCCCTG	0.259													18	56					0	0	1	0	0	T	21030736	C	T	21030736	3	4	81	1	0	0	0	0	1	0	0	0	14779	507	18	2	1031	2	SLCO1B3	12	21030736	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	14965	21030736	112821159	9394	13010											
SLCO1B3	28234	broad.mit.edu	37	12	21069117	21069117	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:21069117C>T	ENST00000381545.3	+	16	2264	c.2045C>T	c.(2044-2046)cCt>cTt	p.P682L	SLCO1B3_ENST00000553473.1_Intron|SLCO1B3_ENST00000261196.2_Missense_Mutation_p.P682L|SLCO1B7_ENST00000554957.1_Intron|LST3_ENST00000381541.3_Intron|LST3_ENST00000540229.1_Intron	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family, member 1B3	682					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)					CATTTTGTACCTTCTGCTGGA	0.328													16	37					0	0	1	0	0	T	21069117	C	T	21069117	3	4	81	1	0	0	0	0	1	0	0	0	14779	681	24	2	2099	2	SLCO1B3	12	21069117	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	38381	21069117	112782778	9395	13011											
SLCO1A2	6579	broad.mit.edu	37	12	21427475	21427475	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:21427475G>A	ENST00000307378.6	-	15	2441	c.1721C>T	c.(1720-1722)aCa>aTa	p.T574I	SLCO1A2_ENST00000458504.1_Missense_Mutation_p.T442I|SLCO1A2_ENST00000452078.1_Missense_Mutation_p.T574I|SLCO1A2_ENST00000537524.1_Missense_Mutation_p.T442I	NM_134431.3	NP_602307.1	P46721	SO1A2_HUMAN	solute carrier organic anion transporter family, member 1A2	574					bile acid metabolic process|sodium-independent organic anion transport	integral to membrane|plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1)	48						GTGTAAACATGTGGAATCCAT	0.358													4	54					0	0	1	0	0	A	21427475	G	A	21427475	3	1	81	1	0	0	0	0	1	0	0	0	14777	1377	48	2	299	2	SLCO1A2	12	21427475	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	358358	21427475	112424420	9396	13012											
RECQL	5965	broad.mit.edu	37	12	21643136	21643136	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:21643136C>A	ENST00000444129.2	-	4	859	c.391G>T	c.(391-393)Gat>Tat	p.D131Y	RECQL_ENST00000421138.2_Missense_Mutation_p.D131Y	NM_002907.3|NM_032941.2	NP_002898.2|NP_116559.1	P46063	RECQ1_HUMAN	RecQ protein-like (DNA helicase Q1-like)	131	Helicase ATP-binding.				DNA recombination|DNA repair|DNA replication	nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|DNA strand annealing activity|protein binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17						TACATACCATCTGAACATAAT	0.294								Other identified genes with known or suspected DNA repair function					6	72					0.0215528	0.0221217	1	1	0	A	21643136	C	A	21643136	3	1	81	1	0	0	0	0	1	0	0	0	13253	913	32	4	1606	4	RECQL	12	21643136	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	215661	21643136	112208759	9397	13013											
RECQL	5965	broad.mit.edu	37	12	21644539	21644539	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:21644539G>A	ENST00000444129.2	-	3	596	c.128C>T	c.(127-129)aCa>aTa	p.T43I	RECQL_ENST00000421138.2_Missense_Mutation_p.T43I	NM_002907.3|NM_032941.2	NP_002898.2|NP_116559.1	P46063	RECQ1_HUMAN	RecQ protein-like (DNA helicase Q1-like)	43					DNA recombination|DNA repair|DNA replication	nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|DNA strand annealing activity|protein binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17						TATTTTCTTTGTCAGGACTTT	0.368								Other identified genes with known or suspected DNA repair function					5	40					0	0	1	0	0	A	21644539	G	A	21644539	3	1	81	1	0	0	0	0	1	0	0	0	13253	1377	48	2	1873	2	RECQL	12	21644539	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1403	21644539	112207356	9398	13014											
LDHB	3945	broad.mit.edu	37	12	21790067	21790067	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:21790067C>T	ENST00000396076.1	-	7	1107	c.775G>A	c.(775-777)Gat>Aat	p.D259N	LDHB_ENST00000350669.1_Missense_Mutation_p.D259N	NM_001174097.1	NP_001167568.1	P07195	LDHB_HUMAN	lactate dehydrogenase B	259					glycolysis|pyruvate metabolic process	cytosol	L-lactate dehydrogenase activity			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	26					NADH(DB00157)	TCAATAAGATCAGCCACACTT	0.343													44	63					0	0	1	0	0	T	21790067	C	T	21790067	3	4	81	1	0	0	0	0	1	0	0	0	8740	826	29	2	237	2	LDHB	12	21790067	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	145528	21790067	112061828	9399	13015											
KCNJ8	3764	broad.mit.edu	37	12	21919215	21919215	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:21919215C>A	ENST00000240662.2	-	3	1062	c.717G>T	c.(715-717)gaG>gaT	p.E239D	RP11-59N23.1_ENST00000542489.1_RNA	NM_004982.3	NP_004973.1	Q15842	IRK8_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 8	239						voltage-gated potassium channel complex				cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28					Levosimendan(DB00922)	TAGGAACCACCTCCCCTTCAG	0.478													16	43					1.99824e-07	2.33645e-07	1	1	0	A	21919215	C	A	21919215	3	1	81	1	0	0	0	0	1	0	0	0	8100	680	24	4	561	4	KCNJ8	12	21919215	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	129148	21919215	111932680	9400	13016											
ABCC9	10060	broad.mit.edu	37	12	21998712	21998712	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:21998712C>A	ENST00000261200.4	-	24	2920	c.2921G>T	c.(2920-2922)aGg>aTg	p.R974M	ABCC9_ENST00000345162.2_Missense_Mutation_p.R938M|RP11-729I10.2_ENST00000539874.1_RNA|ABCC9_ENST00000261201.4_Missense_Mutation_p.R974M	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	974					defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	CATTTTAGTCCTGAGCCTCAT	0.443													15	28					2.23348e-06	2.55658e-06	1	1	0	A	21998712	C	A	21998712	3	1	81	1	0	0	0	0	1	0	0	0	59	681	24	4	1930	4	ABCC9	12	21998712	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	79497	21998712	111853183	9401	13017											
ABCC9	10060	broad.mit.edu	37	12	22001153	22001153	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:22001153C>A	ENST00000261200.4	-	23	2796	c.2797G>T	c.(2797-2799)Gag>Tag	p.E933*	ABCC9_ENST00000345162.2_Nonsense_Mutation_p.E897*|RP11-729I10.2_ENST00000539874.1_RNA|ABCC9_ENST00000261201.4_Nonsense_Mutation_p.E933*	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	933					defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	GTTTTCCTCTCTAAAGTAGTT	0.418													25	28					2.79863e-10	3.42042e-10	1	1	0	A	22001153	C	A	22001153	4	1	81	1	0	0	0	0	0	1	0	0	59	922	32	4	2058	4	ABCC9	12	22001153	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2441	22001153	111850742	9402	13018											
ABCC9	10060	broad.mit.edu	37	12	22005070	22005070	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:22005070C>T	ENST00000261200.4	-	22	2729	c.2730G>A	c.(2728-2730)tgG>tgA	p.W910*	ABCC9_ENST00000345162.2_Nonsense_Mutation_p.W874*|RP11-729I10.2_ENST00000539874.1_RNA|ABCC9_ENST00000261201.4_Nonsense_Mutation_p.W910*	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	910	ABC transporter 1.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	TAAGTGTTTTCCAGTGTTCAT	0.373													26	33					0	0	1	0	0	T	22005070	C	T	22005070	4	4	81	1	0	0	0	0	0	1	0	0	59	856	30	2	2129	2	ABCC9	12	22005070	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3917	22005070	111846825	9403	13019											
ABCC9	10060	broad.mit.edu	37	12	22068693	22068693	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:22068693G>T	ENST00000261200.4	-	5	724	c.725C>A	c.(724-726)cCt>cAt	p.P242H	ABCC9_ENST00000345162.2_Missense_Mutation_p.P242H|ABCC9_ENST00000261201.4_Missense_Mutation_p.P242H	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	242					defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	CAGATCAATAGGCTTTTTGTG	0.368													26	54					2.64397e-27	3.51006e-27	1	1	0	T	22068693	G	T	22068693	3	4	81	1	0	0	0	0	1	0	0	0	59	1000	35	4	4202	4	ABCC9	12	22068693	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	63623	22068693	111783202	9404	13020											
CMAS	55907	broad.mit.edu	37	12	22218057	22218057	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:22218057A>G	ENST00000229329.2	+	8	1247	c.1117A>G	c.(1117-1119)Aat>Gat	p.N373D		NM_018686.4	NP_061156.1	Q8NFW8	NEUA_HUMAN	cytidine monophosphate N-acetylneuraminic acid synthetase	373					lipopolysaccharide biosynthetic process	nucleus	N-acylneuraminate cytidylyltransferase activity			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	24						CTTGATAGGAAATGAAGTGTC	0.413													44	77					0	0	1	0	0	G	22218057	A	G	22218057	3	3	81	1	0	0	0	0	1	0	0	0	3598	14	1	3	1147	3	CMAS	12	22218057	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	149364	22218057	111633838	9405	13021											
SOX5	6660	broad.mit.edu	37	12	23687228	23687228	+	Silent	SNP	G	G	A	rs144757257		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:23687228G>A	ENST00000546136.1	-	14	2180	c.2178C>T	c.(2176-2178)taC>taT	p.Y726Y	SOX5_ENST00000537393.1_Silent_p.Y704Y|SOX5_ENST00000545921.1_Silent_p.Y729Y|SOX5_ENST00000541536.1_Silent_p.Y618Y|SOX5_ENST00000309359.1_Silent_p.Y726Y|SOX5_ENST00000396007.2_Silent_p.Y353Y|SOX5_ENST00000381381.2_Silent_p.Y618Y|SOX5_ENST00000451604.2_Silent_p.Y739Y			P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5	739					transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3)	57						CTTCCTCGTCGTACTCATCAT	0.443													45	69					0	0	1	0	0	A	23687228	G	A	23687228	2	1	81	1	0	0	0	0	0	0	0	1	15008	1140	40	1		1	SOX5	12	23687228	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1469171	23687228	110164667	9406	13022											
SOX5	6660	broad.mit.edu	37	12	23696281	23696281	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:23696281T>A	ENST00000546136.1	-	12	1598	c.1596A>T	c.(1594-1596)gaA>gaT	p.E532D	SOX5_ENST00000537393.1_Missense_Mutation_p.E510D|SOX5_ENST00000545921.1_Missense_Mutation_p.E535D|SOX5_ENST00000541536.1_Missense_Mutation_p.E424D|SOX5_ENST00000309359.1_Missense_Mutation_p.E532D|SOX5_ENST00000396007.2_Missense_Mutation_p.E159D|SOX5_ENST00000381381.2_Missense_Mutation_p.E424D|SOX5_ENST00000451604.2_Missense_Mutation_p.E545D			P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5	545					transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3)	57						GCCCTCGGGATTCCCTATAAA	0.448													6	89					0	0	1	0	0	A	23696281	T	A	23696281	3	1	81	1	0	0	0	0	1	0	0	0	15008	1490	52	4	668	4	SOX5	12	23696281	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	9053	23696281	110155614	9407	13023											
SOX5	6660	broad.mit.edu	37	12	23908572	23908572	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:23908572C>A	ENST00000546136.1	-	3	531	c.529G>T	c.(529-531)Ggg>Tgg	p.G177W	SOX5_ENST00000541847.1_Splice_Site_p.G180W|SOX5_ENST00000537393.1_Splice_Site_p.G155W|SOX5_ENST00000545921.1_Splice_Site_p.G180W|SOX5_ENST00000541536.1_Splice_Site_p.G177W|SOX5_ENST00000309359.1_Splice_Site_p.G177W|SOX5_ENST00000381381.2_Splice_Site_p.G177W|SOX5_ENST00000451604.2_Splice_Site_p.G190W			P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5	190					transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3)	57						ACCATATTACCTTTTATTTCG	0.363													9	55					0.00448238	0.00470627	1	1	0	A	23908572	C	A	23908572	5	1	81	1	0	0	0	0	0	0	1	0	15008	695	24	4	1781	4	SOX5	12	23908572	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	212291	23908572	109943323	9408	13024											
BCAT1	586	broad.mit.edu	37	12	25002836	25002836	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:25002836G>T	ENST00000261192.7	-	6	1084	c.558C>A	c.(556-558)ctC>ctA	p.L186L	BCAT1_ENST00000538118.1_Silent_p.L185L|BCAT1_ENST00000539282.1_Silent_p.L198L|BCAT1_ENST00000544418.1_5'UTR|BCAT1_ENST00000539780.1_Silent_p.L149L|BCAT1_ENST00000342945.5_Silent_p.L125L	NM_001178091.1|NM_005504.6	NP_001171562.1|NP_005495.2	P54687	BCAT1_HUMAN	branched chain amino-acid transaminase 1, cytosolic	186					branched chain family amino acid biosynthetic process|branched chain family amino acid catabolic process|cell proliferation|G1/S transition of mitotic cell cycle	cytosol	L-isoleucine transaminase activity|L-leucine transaminase activity|L-valine transaminase activity			breast(1)|large_intestine(1)|lung(3)|prostate(2)	7	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Ovarian(17;0.107)|Colorectal(261;0.196)				Gabapentin(DB00996)|L-Glutamic Acid(DB00142)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|L-Valine(DB00161)|Pyridoxal Phosphate(DB00114)	CTGGGCTCAAGAGTACAAAGA	0.468													18	36					6.49762e-13	8.15126e-13	1	1	0	T	25002836	G	T	25002836	2	4	81	1	0	0	0	0	0	0	0	1	1352	929	33	4		4	BCAT1	12	25002836	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1094264	25002836	108849059	9409	13025											
LRMP	4033	broad.mit.edu	37	12	25255145	25255146	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:25255145_25255146insA	ENST00000354454.3	+	16	1732_1733	c.903_904insA	c.(904-906)aaafs	p.K302fs	LRMP_ENST00000548766.1_Frame_Shift_Ins_p.K302fs|LRMP_ENST00000547044.1_Frame_Shift_Ins_p.K302fs	NM_006152.3	NP_006143.2	Q12912	LRMP_HUMAN	lymphoid-restricted membrane protein	358					vesicle fusion|vesicle targeting	endoplasmic reticulum membrane|integral to plasma membrane				breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Colorectal(261;0.11)					ACTGCCAAATTAAAAAACGTTC	0.297													18	27	---	---	---	---						A	25255146	-	A	25255145	7	5	81	1	0	1	1	0	0	0	0	0	8995	1742	61	0	949	0	LRMP	12	25255145	Frame_Shift_Ins	INS	-	TCGA-DU-6392-01A-11D-1705-08	252309	25255145	108596750	9410	13026											
LYRM5	144363	broad.mit.edu	37	12	25357176	25357176	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:25357176C>T	ENST00000557540.2	+	3	366	c.197C>T	c.(196-198)gCt>gTt	p.A66V	LYRM5_ENST00000555711.1_3'UTR|LYRM5_ENST00000556351.1_Missense_Mutation_p.A66V|LYRM5_ENST00000556885.1_Missense_Mutation_p.A66V|LYRM5_ENST00000556927.1_Missense_Mutation_p.A66V|LYRM5_ENST00000381356.4_Missense_Mutation_p.A68V|LYRM5_ENST00000556402.1_3'UTR|LYRM5_ENST00000553788.1_Intron			Q6IPR1	LYRM5_HUMAN	LYR motif containing 5	66										large_intestine(3)	3	all_cancers(2;4.75e-35)|all_epithelial(2;1.91e-37)|all_lung(3;1.07e-23)|Lung NSC(3;5.49e-23)|Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.0016)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;2.21e-21)|Epithelial(3;8.04e-19)|all cancers(3;2.26e-16)|STAD - Stomach adenocarcinoma(2;0.00138)			GAGCTAGAAGCTTTGTACTTC	0.333													7	62					0	0	1	0	0	T	25357176	C	T	25357176	3	4	81	1	0	0	0	0	1	0	0	0	9168	797	28	2	209	2	LYRM5	12	25357176	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	102031	25357176	108494719	9411	13027											
KRAS	3845	broad.mit.edu	37	12	25398280	25398280	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:25398280G>A	ENST00000311936.3	-	2	230	c.39C>T	c.(37-39)ggC>ggT	p.G13G	KRAS_ENST00000556131.1_Silent_p.G13G|KRAS_ENST00000557334.1_Silent_p.G13G|KRAS_ENST00000256078.4_Silent_p.G13G	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	13			G -> D (in a breast carcinoma cell line and GASC; somatic mutation).|G -> R (in pylocytic astrocytoma; somatic mutation; increase activation of the Ras pathway).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G13D(22)|p.G13G(18)|p.G13V(6)|p.G13E(3)|p.G13_V14insG(2)|p.G13_V14>DI(1)|p.G13R(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			TCTTGCCTACGCCACCAGCTC	0.343		119	Mis		"pancreatic, colorectal, lung, thyroid, AML, others"				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			4	21					0	0	1	0	0	A	25398280	G	A	25398280	2	1	81	1	0	0	0	0	0	0	0	1	8481	1074	38	1		1	KRAS	12	25398280	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	41104	25398280	108453615	9412	13028											
SSPN	8082	broad.mit.edu	37	12	26383894	26383894	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:26383894G>A	ENST00000242729.2	+	3	794	c.617G>A	c.(616-618)gGc>gAc	p.G206D	RP11-283G6.5_ENST00000540625.1_RNA|RP11-283G6.5_ENST00000537525.1_RNA|RP11-283G6.4_ENST00000540392.1_RNA|SSPN_ENST00000422622.2_Missense_Mutation_p.G103D|SSPN_ENST00000540266.1_Missense_Mutation_p.G103D|SSPN_ENST00000535504.1_Intron	NM_005086.4	NP_005077.2	Q14714	SSPN_HUMAN	sarcospan	206					cell adhesion|muscle contraction	cell junction|dystrophin-associated glycoprotein complex|integral to plasma membrane|postsynaptic membrane|sarcolemma|transport vesicle				kidney(1)|large_intestine(2)|lung(5)|skin(1)|stomach(1)	10	Colorectal(261;0.0847)					TTGGTCTGCGGCCTTGTGTGC	0.507													29	52					0	0	1	0	0	A	26383894	G	A	26383894	3	1	81	1	0	0	0	0	1	0	0	0	15244	1203	42	2	627	2	SSPN	12	26383894	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	985614	26383894	107468001	9413	13029											
SSPN	8082	broad.mit.edu	37	12	26383931	26383931	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:26383931A>G	ENST00000242729.2	+	3	831	c.654A>G	c.(652-654)aaA>aaG	p.K218K	RP11-283G6.5_ENST00000540625.1_RNA|RP11-283G6.5_ENST00000537525.1_RNA|RP11-283G6.4_ENST00000540392.1_RNA|SSPN_ENST00000422622.2_Silent_p.K115K|SSPN_ENST00000540266.1_Silent_p.K115K|SSPN_ENST00000535504.1_Intron	NM_005086.4	NP_005077.2	Q14714	SSPN_HUMAN	sarcospan	218					cell adhesion|muscle contraction	cell junction|dystrophin-associated glycoprotein complex|integral to plasma membrane|postsynaptic membrane|sarcolemma|transport vesicle				kidney(1)|large_intestine(2)|lung(5)|skin(1)|stomach(1)	10	Colorectal(261;0.0847)					TGATGTGGAAACATAGGTACC	0.488													33	48					0	0	1	0	0	G	26383931	A	G	26383931	2	3	81	1	0	0	0	0	0	0	0	1	15244	40	2	3		3	SSPN	12	26383931	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	37	26383931	107467964	9414	13030											
ITPR2	3709	broad.mit.edu	37	12	26493197	26493197	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:26493197C>T	ENST00000381340.3	-	56	8338	c.7922G>A	c.(7921-7923)aGt>aAt	p.S2641N	RP11-513G19.1_ENST00000535324.1_RNA	NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	2641					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					ATTTTGCTCACTGTCGCCTTC	0.493													4	38					0	0	1	0	0	T	26493197	C	T	26493197	3	4	81	1	0	0	0	0	1	0	0	0	7965	565	20	2	191	2	ITPR2	12	26493197	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	109266	26493197	107358698	9415	13031											
ITPR2	3709	broad.mit.edu	37	12	26580872	26580872	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:26580872T>C	ENST00000381340.3	-	49	7335	c.6919A>G	c.(6919-6921)Aca>Gca	p.T2307A		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	2307					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					AGTATTAATGTAGGCCCAAGA	0.333													18	33					0	0	1	0	0	C	26580872	T	C	26580872	3	2	81	1	0	0	0	0	1	0	0	0	7965	1638	57	3	1222	3	ITPR2	12	26580872	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	87675	26580872	107271023	9416	13032											
ITPR2	3709	broad.mit.edu	37	12	26628240	26628240	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:26628240G>T	ENST00000381340.3	-	45	6747	c.6331C>A	c.(6331-6333)Ctg>Atg	p.L2111M		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	2111					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					TGATGGGCCAGAATATAGATA	0.393													17	34					5.35267e-07	6.21096e-07	1	1	0	T	26628240	G	T	26628240	3	4	81	1	0	0	0	0	1	0	0	0	7965	933	33	4	1826	4	ITPR2	12	26628240	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	47368	26628240	107223655	9417	13033											
ITPR2	3709	broad.mit.edu	37	12	26636744	26636744	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:26636744T>C	ENST00000381340.3	-	42	6315	c.5899A>G	c.(5899-5901)Acc>Gcc	p.T1967A		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	1967					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					AGGCCACCGGTTGTACTTCCA	0.473													16	158					0	0	1	0	0	C	26636744	T	C	26636744	3	2	81	1	0	0	0	0	1	0	0	0	7965	1725	60	3	2270	3	ITPR2	12	26636744	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	8504	26636744	107215151	9418	13034											
ITPR2	3709	broad.mit.edu	37	12	26648141	26648141	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:26648141C>T	ENST00000381340.3	-	38	5542	c.5126G>A	c.(5125-5127)aGt>aAt	p.S1709N		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	1709					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					CACACCAATACTATAATCACC	0.358													28	42					0	0	1	0	0	T	26648141	C	T	26648141	3	4	81	1	0	0	0	0	1	0	0	0	7965	565	20	2	3059	2	ITPR2	12	26648141	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	11397	26648141	107203754	9419	13035											
ITPR2	3709	broad.mit.edu	37	12	26755303	26755303	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:26755303C>A	ENST00000381340.3	-	28	4094	c.3678G>T	c.(3676-3678)aaG>aaT	p.K1226N		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	1226					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					CAGGACTAACCTTTTCATAGG	0.328													9	80					2.17888e-05	2.43576e-05	1	1	0	A	26755303	C	A	26755303	5	1	81	1	0	0	0	0	0	0	1	0	7965	695	24	4	4547	4	ITPR2	12	26755303	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	107162	26755303	107096592	9420	13036											
ITPR2	3709	broad.mit.edu	37	12	26777268	26777268	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:26777268T>C	ENST00000381340.3	-	24	3502	c.3086A>G	c.(3085-3087)gAa>gGa	p.E1029G	ITPR2_ENST00000545902.1_5'UTR|RP11-666F17.1_ENST00000414098.2_RNA	NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	1029					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					AGCTGCAATTTCATCTATATC	0.284													11	104					0	0	1	0	0	C	26777268	T	C	26777268	3	2	81	1	0	0	0	0	1	0	0	0	7965	1783	62	3	5155	3	ITPR2	12	26777268	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	21965	26777268	107074627	9421	13037											
ITPR2	3709	broad.mit.edu	37	12	26809236	26809236	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:26809236A>G	ENST00000381340.3	-	19	2854	c.2438T>C	c.(2437-2439)aTt>aCt	p.I813T		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	813					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					ATACTCATGAATTGTGATCTT	0.478													6	60					0	0	1	0	0	G	26809236	A	G	26809236	3	3	81	1	0	0	0	0	1	0	0	0	7965	101	4	3	5823	3	ITPR2	12	26809236	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	31968	26809236	107042659	9422	13038											
ITPR2	3709	broad.mit.edu	37	12	26818923	26818923	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:26818923G>A	ENST00000381340.3	-	14	1887	c.1471C>T	c.(1471-1473)Caa>Taa	p.Q491*		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	491					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					AGAACTTCTTGTCCATTATTA	0.348													4	49					0	0	1	0	0	A	26818923	G	A	26818923	4	1	81	1	0	0	0	0	0	1	0	0	7965	1386	48	2	6810	2	ITPR2	12	26818923	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	9687	26818923	107032972	9423	13039											
ARNTL2	56938	broad.mit.edu	37	12	27521253	27521253	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:27521253T>C	ENST00000544915.1	+	2	309	c.90T>C	c.(88-90)agT>agC	p.S30S	ARNTL2_ENST00000266503.5_Silent_p.S30S|ARNTL2_ENST00000546179.1_Silent_p.S41S|ARNTL2_ENST00000261178.5_Silent_p.S30S|ARNTL2_ENST00000395901.2_Silent_p.S41S|ARNTL2_ENST00000539558.1_3'UTR|ARNTL2_ENST00000311001.5_Silent_p.S30S	NM_020183.4	NP_064568.3	Q8WYA1	BMAL2_HUMAN	aryl hydrocarbon receptor nuclear translocator-like 2	30					circadian rhythm|entrainment of circadian clock|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1)	21	Colorectal(261;0.0847)|Lung SC(9;0.184)					GCCGCGTGAGTCCAGGGACAA	0.468													22	31					0	0	1	0	0	C	27521253	T	C	27521253	2	2	81	1	0	0	0	0	0	0	0	1	967	1664	58	3		3	ARNTL2	12	27521253	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	702330	27521253	106330642	9424	13040											
ARNTL2	56938	broad.mit.edu	37	12	27573431	27573431	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:27573431C>A	ENST00000544915.1	+	16	1994	c.1775C>A	c.(1774-1776)cCt>cAt	p.P592H	ARNTL2_ENST00000266503.5_Missense_Mutation_p.P626H|ARNTL2_ENST00000542388.1_Missense_Mutation_p.P541H|ARNTL2_ENST00000546179.1_3'UTR|RP11-165P7.1_ENST00000500498.2_RNA|ARNTL2_ENST00000261178.5_Missense_Mutation_p.P578H|ARNTL2_ENST00000395901.2_Missense_Mutation_p.P589H|ARNTL2_ENST00000311001.5_Missense_Mutation_p.P612H	NM_020183.4	NP_064568.3	Q8WYA1	BMAL2_HUMAN	aryl hydrocarbon receptor nuclear translocator-like 2	626					circadian rhythm|entrainment of circadian clock|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1)	21	Colorectal(261;0.0847)|Lung SC(9;0.184)					CTGGGAGACCCTGGGGACTTC	0.438													5	82					3.59834e-05	3.99423e-05	1	1	0	A	27573431	C	A	27573431	3	1	81	1	0	0	0	0	1	0	0	0	967	681	24	4	1943	4	ARNTL2	12	27573431	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	52178	27573431	106278464	9425	13041											
PPFIBP1	8496	broad.mit.edu	37	12	27841240	27841240	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:27841240G>A	ENST00000318304.8	+	25	2681	c.2398G>A	c.(2398-2400)Gcc>Acc	p.A800T	PPFIBP1_ENST00000542629.1_Missense_Mutation_p.A769T|PPFIBP1_ENST00000228425.6_Missense_Mutation_p.A794T|PPFIBP1_ENST00000537927.1_Missense_Mutation_p.A647T	NM_001198916.1|NM_177444.2	NP_001185845.1|NP_803193	Q86W92	LIPB1_HUMAN	PTPRF interacting protein, binding protein 1 (liprin beta 1)	800					cell adhesion	plasma membrane	protein binding		PPFIBP1/ALK(3)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(13)|prostate(2)|skin(1)	32	Lung SC(9;0.0873)					GAATACCATCGCCCCATCAGA	0.468													25	207					0	0	1	0	0	A	27841240	G	A	27841240	3	1	81	1	0	0	0	0	1	0	0	0	12358	1087	38	1	2516	1	PPFIBP1	12	27841240	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	267809	27841240	106010655	9426	13042											
CCDC91	55297	broad.mit.edu	37	12	28605515	28605515	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:28605515A>G	ENST00000545336.1	+	14	1448	c.1029A>G	c.(1027-1029)gaA>gaG	p.E343E	CCDC91_ENST00000306172.5_Silent_p.E313E|CCDC91_ENST00000381259.1_Silent_p.E343E|CCDC91_ENST00000539107.1_Silent_p.E307E|CCDC91_ENST00000540401.1_3'UTR|CCDC91_ENST00000381256.1_Silent_p.E307E			Q7Z6B0	CCD91_HUMAN	coiled-coil domain containing 91	343	Homodimerization.				protein transport	Golgi apparatus|membrane				NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|skin(1)	22	Acute lymphoblastic leukemia(23;0.00718)|all_hematologic(23;0.0113)|Lung SC(9;0.184)					GGAAGACAGAACATGCAAAAG	0.299													16	40					0	0	1	0	0	G	28605515	A	G	28605515	2	3	81	1	0	0	0	0	0	0	0	1	2890	40	2	3		3	CCDC91	12	28605515	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	764275	28605515	105246380	9427	13043	62	2									
CCDC91	55297	broad.mit.edu	37	12	28605525	28605525	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:28605525G>T	ENST00000545336.1	+	14	1458	c.1039G>T	c.(1039-1041)Gat>Tat	p.D347Y	CCDC91_ENST00000306172.5_Missense_Mutation_p.D317Y|CCDC91_ENST00000381259.1_Missense_Mutation_p.D347Y|CCDC91_ENST00000539107.1_Missense_Mutation_p.D311Y|CCDC91_ENST00000540401.1_3'UTR|CCDC91_ENST00000381256.1_Missense_Mutation_p.D311Y			Q7Z6B0	CCD91_HUMAN	coiled-coil domain containing 91	347	Homodimerization.				protein transport	Golgi apparatus|membrane				NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|skin(1)	22	Acute lymphoblastic leukemia(23;0.00718)|all_hematologic(23;0.0113)|Lung SC(9;0.184)					ACATGCAAAAGATCAAGAAAA	0.289													4	52					0.00909568	0.00944708	1	1	0	T	28605525	G	T	28605525	3	4	81	1	0	0	0	0	1	0	0	0	2890	942	33	4	1077	4	CCDC91	12	28605525	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	10	28605525	105246370	9428	13044	62	2									
ERGIC2	51290	broad.mit.edu	37	12	29496212	29496212	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:29496212G>A	ENST00000360150.4	-	12	904	c.829C>T	c.(829-831)Cgt>Tgt	p.R277C		NM_016570.2	NP_057654.2	Q96RQ1	ERGI2_HUMAN	ERGIC and golgi 2	277					vesicle-mediated transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi apparatus|integral to membrane|nucleus				endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(2)|urinary_tract(1)	10	Lung NSC(12;2.02e-08)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)|Lung SC(9;0.184)				Arsenic trioxide(DB01169)	TTAATGATACGTTCCTAAAAG	0.418													7	65					0	0	1	0	0	A	29496212	G	A	29496212	3	1	81	1	0	0	0	0	1	0	0	0	5252	1145	40	1	316	1	ERGIC2	12	29496212	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	890687	29496212	104355683	9429	13045											
OVCH1	341350	broad.mit.edu	37	12	29604283	29604283	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:29604283G>A	ENST00000318184.5	-	22	2749	c.2750C>T	c.(2749-2751)aCg>aTg	p.T917M	OVCH1-AS1_ENST00000551108.1_Intron|OVCH1-AS1_ENST00000549411.1_Intron	NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1	917	CUB 3.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					ATTACCTGCCGTCTTTCTCTT	0.413													8	20					0	0	1	0	0	A	29604283	G	A	29604283	3	1	81	1	0	0	0	0	1	0	0	0	11370	1145	40	1	682	1	OVCH1	12	29604283	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	108071	29604283	104247612	9430	13046											
OVCH1	341350	broad.mit.edu	37	12	29607774	29607774	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:29607774C>T	ENST00000318184.5	-	21	2529	c.2530G>A	c.(2530-2532)Ggt>Agt	p.G844S	OVCH1-AS1_ENST00000551108.1_Intron|OVCH1-AS1_ENST00000549411.1_Intron	NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1	844					proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					CATTTATTACCTGGCCAAGAT	0.373													7	14					0	0	1	0	0	T	29607774	C	T	29607774	5	4	81	1	0	0	0	0	0	0	1	0	11370	695	24	2	906	2	OVCH1	12	29607774	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3491	29607774	104244121	9431	13047											
OVCH1	341350	broad.mit.edu	37	12	29624883	29624883	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:29624883A>G	ENST00000318184.5	-	16	1707	c.1708T>C	c.(1708-1710)Tgg>Cgg	p.W570R	OVCH1-AS1_ENST00000551108.1_Intron|OVCH1-AS1_ENST00000549411.1_Intron	NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1	570					proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					CTGGAAAGCCACTGGGGACTA	0.498													6	14					0	0	1	0	0	G	29624883	A	G	29624883	3	3	81	1	0	0	0	0	1	0	0	0	11370	159	6	3	1748	3	OVCH1	12	29624883	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	17109	29624883	104227012	9432	13048											
DDX11	1663	broad.mit.edu	37	12	31236770	31236770	+	Silent	SNP	T	T	C	rs143234228		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:31236770T>C	ENST00000251758.5	+	3	419	c.168T>C	c.(166-168)tgT>tgC	p.C56C	DDX11_ENST00000407793.2_Silent_p.C56C|DDX11_ENST00000542838.1_Silent_p.C56C|DDX11_ENST00000350437.4_Silent_p.C56C|DDX11_ENST00000545668.1_Silent_p.C56C|DDX11_ENST00000228264.6_Silent_p.C30C			Q96FC9	DDX11_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11	56	Helicase ATP-binding.				G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitotic sister chromatid segregation|positive regulation of cell proliferation|S phase of mitotic cell cycle|sister chromatid cohesion	midbody|nuclear chromatin|nucleolus|spindle pole	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|RNA binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	57	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					GTCTTATTTGTGGGGCCCTCT	0.438										Multiple Myeloma(12;0.14)			6	58					0	0	1	0	0	C	31236770	T	C	31236770	2	2	81	1	0	0	0	0	0	0	0	1	4366	1702	59	3		3	DDX11	12	31236770	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	1611887	31236770	102615125	9433	13049											
DDX11	1663	broad.mit.edu	37	12	31244760	31244760	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:31244760C>T	ENST00000407793.2	+	10	1448	c.1197C>T	c.(1195-1197)atC>atT	p.I399I	DDX11_ENST00000542838.1_Silent_p.I399I|DDX11_ENST00000350437.4_Silent_p.I399I|DDX11_ENST00000545668.1_Silent_p.I399I|DDX11_ENST00000251758.5_3'UTR|DDX11_ENST00000228264.6_Silent_p.I373I	NM_030653.3|NM_152438.1	NP_085911.2|NP_689651.1	Q96FC9	DDX11_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11	399	Helicase ATP-binding.				G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitotic sister chromatid segregation|positive regulation of cell proliferation|S phase of mitotic cell cycle|sister chromatid cohesion	midbody|nuclear chromatin|nucleolus|spindle pole	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|RNA binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	57	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					ACAACCTGATCGACACCATCA	0.667										Multiple Myeloma(12;0.14)			14	49					0	0	1	0	0	T	31244760	C	T	31244760	2	4	81	1	0	0	0	0	0	0	0	1	4366	874	31	1		1	DDX11	12	31244760	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	7990	31244760	102607135	9434	13050											
DDX11	1663	broad.mit.edu	37	12	31255888	31255888	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:31255888C>T	ENST00000407793.2	+	24	2642	c.2391C>T	c.(2389-2391)ggC>ggT	p.G797G	DDX11_ENST00000542838.1_Silent_p.G797G|DDX11_ENST00000350437.4_Silent_p.G747G|DDX11_ENST00000545668.1_Silent_p.G797G|DDX11_ENST00000251758.5_3'UTR|DDX11_ENST00000228264.6_Silent_p.G771G	NM_030653.3|NM_152438.1	NP_085911.2|NP_689651.1	Q96FC9	DDX11_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11	797					G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitotic sister chromatid segregation|positive regulation of cell proliferation|S phase of mitotic cell cycle|sister chromatid cohesion	midbody|nuclear chromatin|nucleolus|spindle pole	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|RNA binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	57	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					TGATGGTGGGCATGCCCTTCC	0.607										Multiple Myeloma(12;0.14)			4	33					0	0	1	0	0	T	31255888	C	T	31255888	2	4	81	1	0	0	0	0	0	0	0	1	4366	697	25	2		2	DDX11	12	31255888	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	11128	31255888	102596007	9435	13051											
DDX11	1663	broad.mit.edu	37	12	31256654	31256654	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:31256654G>A	ENST00000407793.2	+	26	2926	c.2675G>A	c.(2674-2676)tGc>tAc	p.C892Y	DDX11_ENST00000542838.1_Missense_Mutation_p.A894T|DDX11_ENST00000350437.4_Missense_Mutation_p.A844T|DDX11_ENST00000545668.1_Missense_Mutation_p.C892Y|DDX11_ENST00000251758.5_3'UTR|DDX11_ENST00000228264.6_Missense_Mutation_p.A868T	NM_030653.3|NM_152438.1	NP_085911.2|NP_689651.1	Q96FC9	DDX11_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11	892					G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitotic sister chromatid segregation|positive regulation of cell proliferation|S phase of mitotic cell cycle|sister chromatid cohesion	midbody|nuclear chromatin|nucleolus|spindle pole	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|RNA binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	57	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					CGCCATTGCTGCTGTGCAGAA	0.602										Multiple Myeloma(12;0.14)			35	48					0	0	1	0	0	A	31256654	G	A	31256654	3	1	81	1	0	0	0	0	1	0	0	0	4366	1319	46	2	2778	2	DDX11	12	31256654	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	766	31256654	102595241	9436	13052											
FAM60A	58516	broad.mit.edu	37	12	31446798	31446798	+	Translation_Start_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:31446798G>T	ENST00000395766.1	-	0	570				FAM60A_ENST00000539409.1_Intron|FAM60A_ENST00000454658.2_Missense_Mutation_p.S99Y|FAM60A_ENST00000542983.1_De_novo_Start_OutOfFrame|FAM60A_ENST00000337682.4_Missense_Mutation_p.S99Y	NM_001135811.1|NM_021238.2	NP_001129283.1|NP_067061.1	Q9NP50	FA60A_HUMAN	family with sequence similarity 60, member A											large_intestine(1)|lung(2)	3	all_cancers(9;5.22e-13)|all_epithelial(9;4e-13)|all_lung(12;1.2e-11)|Lung NSC(12;2.17e-09)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0207)|Lung SC(12;0.0592)|Esophageal squamous(101;0.162)					CCTGTTCCCAGATAGAGTTTT	0.323													11	39					1.58986e-06	1.82794e-06	1	1	0	T	31446798	G	T	31446798	1	4	81	1	0	0	0	0	0	0	0	0	5630	942	33	4		4	FAM60A	12	31446798	Translation_Start_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	190144	31446798	102405097	9437	13053											
DENND5B	160518	broad.mit.edu	37	12	31605026	31605026	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:31605026G>T	ENST00000389082.5	-	5	1741	c.1477C>A	c.(1477-1479)Cta>Ata	p.L493I	DENND5B_ENST00000306833.6_Missense_Mutation_p.L528I|DENND5B_ENST00000354285.4_Missense_Mutation_p.L515I|DENND5B_ENST00000536562.1_Missense_Mutation_p.L528I	NM_144973.3	NP_659410.3	Q6ZUT9	DEN5B_HUMAN	DENN/MADD domain containing 5B	493						integral to membrane				NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						TAGTCCCTTAGTTCTGCCTCT	0.458													11	132					3.27435e-08	3.88014e-08	1	1	0	T	31605026	G	T	31605026	3	4	81	1	0	0	0	0	1	0	0	0	4465	1020	36	4	2415	4	DENND5B	12	31605026	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	158228	31605026	102246869	9438	13054											
H3F3C	440093	broad.mit.edu	37	12	31944956	31944956	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:31944956G>A	ENST00000340398.3	-	1	219	c.145C>T	c.(145-147)Cga>Tga	p.R49*		NM_001013699.2	NP_001013721.2	Q6NXT2	H3C_HUMAN	H3 histone, family 3C	49					nucleosome assembly	nucleosome|nucleus	DNA binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	18						CGAATCTCTCGAAGCGCCACG	0.602										HNSCC(67;0.2)			20	26					0	0	1	0	0	A	31944956	G	A	31944956	4	1	81	1	0	0	0	0	0	1	0	0	6976	1066	37	1	266	1	H3F3C	12	31944956	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	339930	31944956	101906939	9439	13055											
BICD1	636	broad.mit.edu	37	12	32369275	32369275	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:32369275C>T	ENST00000548411.1	+	2	489	c.308C>T	c.(307-309)gCt>gTt	p.A103V	BICD1_ENST00000281474.5_Missense_Mutation_p.A103V	NM_001003398.1	NP_001003398.1	Q96G01	BICD1_HUMAN	bicaudal D homolog 1 (Drosophila)	103					anatomical structure morphogenesis|intracellular mRNA localization|microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule|positive regulation of receptor-mediated endocytosis|protein localization to organelle|RNA processing|stress granule assembly|viral reproduction	cytoplasmic vesicle|cytoskeleton|cytosol|host cell viral assembly compartment|membrane|perinuclear region of cytoplasm|trans-Golgi network	cytoskeletal adaptor activity|dynactin binding|dynein binding|proteinase activated receptor binding|Rab GTPase binding|structural constituent of cytoskeleton			NS(1)|breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46	all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0201)			TCGAAGGAGGCTTACTATCTG	0.547													15	32					0	0	1	0	0	T	32369275	C	T	32369275	3	4	81	1	0	0	0	0	1	0	0	0	1427	797	28	2	314	2	BICD1	12	32369275	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	424319	32369275	101482620	9440	13056											
FGD4	121512	broad.mit.edu	37	12	32760977	32760977	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:32760977G>T	ENST00000427716.2	+	8	1504	c.1080G>T	c.(1078-1080)aaG>aaT	p.K360N	FGD4_ENST00000381025.3_Missense_Mutation_p.K112N|FGD4_ENST00000534526.2_Missense_Mutation_p.K497N|FGD4_ENST00000546442.1_Missense_Mutation_p.K267N|FGD4_ENST00000266482.3_Missense_Mutation_p.K112N|FGD4_ENST00000525053.1_Missense_Mutation_p.K472N|FGD4_ENST00000531134.1_Missense_Mutation_p.K445N	NM_139241.2	NP_640334.2	Q96M96	FGD4_HUMAN	FYVE, RhoGEF and PH domain containing 4	360	DH.				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|filopodium|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	27	Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)					TGCTCCTTAAGGACTATCTAA	0.403													8	162					1.06961e-07	1.25755e-07	1	1	0	T	32760977	G	T	32760977	3	4	81	1	0	0	0	0	1	0	0	0	5868	991	35	4	1102	4	FGD4	12	32760977	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	391702	32760977	101090918	9441	13057											
FGD4	121512	broad.mit.edu	37	12	32793451	32793451	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:32793451A>C	ENST00000427716.2	+	17	2709	c.2285A>C	c.(2284-2286)aAa>aCa	p.K762T	FGD4_ENST00000525053.1_Missense_Mutation_p.K874T|FGD4_ENST00000546442.1_Missense_Mutation_p.K669T|FGD4_ENST00000534526.2_Missense_Mutation_p.K899T|FGD4_ENST00000531134.1_Missense_Mutation_p.K847T	NM_139241.2	NP_640334.2	Q96M96	FGD4_HUMAN	FYVE, RhoGEF and PH domain containing 4	762					actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|filopodium|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	27	Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)					GAACCTAAGAAAAAATCAGAA	0.488													4	42					0	0	1	0	0	C	32793451	A	C	32793451	3	2	81	1	0	0	0	0	1	0	0	0	5868	14	1	5	2343	5	FGD4	12	32793451	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	32474	32793451	101058444	9442	13058											
DNM1L	10059	broad.mit.edu	37	12	32854484	32854484	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:32854484G>T	ENST00000452533.2	+	2	402	c.238G>T	c.(238-240)Gga>Tga	p.G80*	DNM1L_ENST00000358214.5_Nonsense_Mutation_p.G80*|DNM1L_ENST00000414834.2_Missense_Mutation_p.Q11H|DNM1L_ENST00000549701.1_Nonsense_Mutation_p.G80*|DNM1L_ENST00000553257.1_Nonsense_Mutation_p.G80*|DNM1L_ENST00000381000.4_Nonsense_Mutation_p.G80*|DNM1L_ENST00000266481.6_Nonsense_Mutation_p.G80*|DNM1L_ENST00000547312.1_Nonsense_Mutation_p.G80*|DNM1L_ENST00000548671.1_3'UTR	NM_012062.3|NM_012063.2	NP_036192.2|NP_036193.2	O00429	DNM1L_HUMAN	dynamin 1-like	80	GTPase domain.				cellular component disassembly involved in apoptosis|mitochondrial fragmentation involved in apoptosis|mitochondrial membrane organization|positive regulation of mitochondrial fission	cis-Golgi network|cytosol|endomembrane system|endoplasmic reticulum|mitochondrial outer membrane	GTP binding|GTPase activity|ubiquitin protein ligase binding			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	23	Lung NSC(5;2.15e-06)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					GAAAACAACAGGAGAAGAAAA	0.363													15	45					3.32936e-07	3.87413e-07	1	1	0	T	32854484	G	T	32854484	4	4	81	1	0	0	0	0	0	1	0	0	4698	1001	35	4	244	4	DNM1L	12	32854484	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	61033	32854484	100997411	9443	13059											
DNM1L	10059	broad.mit.edu	37	12	32871622	32871622	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:32871622C>T	ENST00000452533.2	+	7	829	c.665C>T	c.(664-666)gCg>gTg	p.A222V	DNM1L_ENST00000358214.5_Missense_Mutation_p.A235V|DNM1L_ENST00000414834.2_Intron|DNM1L_ENST00000549701.1_Missense_Mutation_p.A222V|DNM1L_ENST00000553257.1_Missense_Mutation_p.A235V|DNM1L_ENST00000381000.4_Missense_Mutation_p.A235V|DNM1L_ENST00000266481.6_Missense_Mutation_p.A222V|DNM1L_ENST00000547312.1_Missense_Mutation_p.A222V	NM_012062.3|NM_012063.2	NP_036192.2|NP_036193.2	O00429	DNM1L_HUMAN	dynamin 1-like	222	GTPase domain.				cellular component disassembly involved in apoptosis|mitochondrial fragmentation involved in apoptosis|mitochondrial membrane organization|positive regulation of mitochondrial fission	cis-Golgi network|cytosol|endomembrane system|endoplasmic reticulum|mitochondrial outer membrane	GTP binding|GTPase activity|ubiquitin protein ligase binding	p.A222V(1)		cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	23	Lung NSC(5;2.15e-06)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					CTCATGGATGCGGGTACTGAT	0.383													51	87					0	0	1	0	0	T	32871622	C	T	32871622	3	4	81	1	0	0	0	0	1	0	0	0	4698	768	27	1	691	1	DNM1L	12	32871622	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	17138	32871622	100980273	9444	13060											
PKP2	5318	broad.mit.edu	37	12	33030843	33030843	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:33030843G>T	ENST00000340811.4	-	3	1079	c.971C>A	c.(970-972)gCg>gAg	p.A324E	PKP2_ENST00000070846.6_Missense_Mutation_p.A324E	NM_001005242.2	NP_001005242.2	Q99959	PKP2_HUMAN	plakophilin 2	324					cell-cell adhesion	desmosome|integral to membrane|nucleus	binding			NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					CCCTGCGGCCGCCTGGCCGAC	0.622													17	18					2.48551e-13	3.1326e-13	1	1	0	T	33030843	G	T	33030843	3	4	81	1	0	0	0	0	1	0	0	0	12033	1087	38	5	1722	5	PKP2	12	33030843	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	159221	33030843	100821052	9445	13061											
PKP2	5318	broad.mit.edu	37	12	33031425	33031425	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:33031425T>C	ENST00000340811.4	-	3	497	c.389A>G	c.(388-390)tAc>tGc	p.Y130C	PKP2_ENST00000070846.6_Missense_Mutation_p.Y130C	NM_001005242.2	NP_001005242.2	Q99959	PKP2_HUMAN	plakophilin 2	130					cell-cell adhesion	desmosome|integral to membrane|nucleus	binding			NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					CTGGGAGCTGTACTGTGCTGT	0.512													17	278					0	0	1	0	0	C	33031425	T	C	33031425	3	2	81	1	0	0	0	0	1	0	0	0	12033	1638	57	3	2304	3	PKP2	12	33031425	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	582	33031425	100820470	9446	13062											
SYT10	341359	broad.mit.edu	37	12	33535302	33535302	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:33535302G>A	ENST00000228567.3	-	5	1648	c.1352C>T	c.(1351-1353)gCg>gTg	p.A451V	SYT10_ENST00000535526.1_Missense_Mutation_p.A270V	NM_198992.3	NP_945343.1	Q6XYQ8	SYT10_HUMAN	synaptotagmin X	451	C2 2.					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					ATCCATGACCGCAATGGAGAG	0.448													28	36					0	0	1	0	0	A	33535302	G	A	33535302	3	1	81	1	0	0	0	0	1	0	0	0	15523	1087	38	1	231	1	SYT10	12	33535302	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	503877	33535302	100316593	9447	13063											
ALG10	84920	broad.mit.edu	37	12	34178815	34178815	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:34178815G>A	ENST00000266483.2	+	3	706	c.387G>A	c.(385-387)caG>caA	p.Q129Q	RP11-847H18.2_ENST00000501954.2_RNA|ALG10_ENST00000538927.1_Intron	NM_032834.3	NP_116223.3	Q5BKT4	AG10A_HUMAN	ALG10, alpha-1,2-glucosyltransferase	129					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	26	Lung NSC(5;3.82e-05)|Acute lymphoblastic leukemia(23;0.0142)|all_hematologic(23;0.0429)	Lung NSC(34;0.204)|all_lung(34;0.235)				CAAGTATCCAGAGAGTCTTGT	0.303													44	65					0	0	1	0	0	A	34178815	G	A	34178815	2	1	81	1	0	0	0	0	0	0	0	1	508	933	33	2		2	ALG10	12	34178815	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	643513	34178815	99673080	9448	13064											
ALG10B	144245	broad.mit.edu	37	12	38712126	38712126	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:38712126G>A	ENST00000308742.4	+	2	551	c.235G>A	c.(235-237)Gcc>Acc	p.A79T	ALG10B_ENST00000551464.1_Missense_Mutation_p.A79T	NM_001013620.3	NP_001013642.1	Q5I7T1	AG10B_HUMAN	ALG10B, alpha-1,2-glucosyltransferase	79					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane|plasma membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity			breast(2)|kidney(3)|large_intestine(7)|lung(8)|ovary(4)|skin(1)	25	Esophageal squamous(101;0.187)	Lung NSC(34;0.204)|all_lung(34;0.235)				GGTCAAACCTGCCATTTGGAT	0.398													83	147					0	0	1	0	0	A	38712126	G	A	38712126	3	1	81	1	0	0	0	0	1	0	0	0	509	1319	46	2	241	2	ALG10B	12	38712126	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	4533311	38712126	95139769	9449	13065											
ALG10B	144245	broad.mit.edu	37	12	38714922	38714922	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:38714922C>A	ENST00000308742.4	+	3	1645	c.1329C>A	c.(1327-1329)tgC>tgA	p.C443*	ALG10B_ENST00000551464.1_Intron	NM_001013620.3	NP_001013642.1	Q5I7T1	AG10B_HUMAN	ALG10B, alpha-1,2-glucosyltransferase	443					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane|plasma membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity			breast(2)|kidney(3)|large_intestine(7)|lung(8)|ovary(4)|skin(1)	25	Esophageal squamous(101;0.187)	Lung NSC(34;0.204)|all_lung(34;0.235)				AACTGAGTTGCTATGCAATTG	0.348													74	119					1.08321e-29	1.44332e-29	1	1	0	A	38714922	C	A	38714922	4	1	81	1	0	0	0	0	0	1	0	0	509	805	28	4	1339	4	ALG10B	12	38714922	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2796	38714922	95136973	9450	13066											
KIF21A	55605	broad.mit.edu	37	12	39725524	39725524	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:39725524G>A	ENST00000395670.3	-	22	3540	c.3121C>T	c.(3121-3123)Cta>Tta	p.L1041L	KIF21A_ENST00000544797.2_Silent_p.L1028L|KIF21A_ENST00000361961.3_Silent_p.L1028L|KIF21A_ENST00000541463.2_Silent_p.L1005L|KIF21A_ENST00000361418.5_Silent_p.L1041L			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	1041					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				AAGTGATCTAGCAGGTATCGG	0.368													7	104					0	0	1	0	0	A	39725524	G	A	39725524	2	1	81	1	0	0	0	0	0	0	0	1	8330	962	34	2		2	KIF21A	12	39725524	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1010602	39725524	94126371	9451	13067											
KIF21A	55605	broad.mit.edu	37	12	39763653	39763653	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:39763653C>A	ENST00000395670.3	-	3	747	c.328G>T	c.(328-330)Gaa>Taa	p.E110*	KIF21A_ENST00000544797.2_Nonsense_Mutation_p.E110*|KIF21A_ENST00000361961.3_Nonsense_Mutation_p.E110*|KIF21A_ENST00000541463.2_Nonsense_Mutation_p.E110*|KIF21A_ENST00000361418.5_Nonsense_Mutation_p.E110*			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	110	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				ATACCCAGTTCTTCCTCAACA	0.338													5	48					0.00198382	0.00209725	1	1	0	A	39763653	C	A	39763653	4	1	81	1	0	0	0	0	0	1	0	0	8330	922	32	4	4840	4	KIF21A	12	39763653	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	38129	39763653	94088242	9452	13068											
C12orf40	283461	broad.mit.edu	37	12	40020150	40020150	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:40020150C>T	ENST00000324616.5	+	1	166	c.12C>T	c.(10-12)gtC>gtT	p.V4V	C12orf40_ENST00000405531.3_Silent_p.V4V|C12orf40_ENST00000398716.1_5'UTR	NM_001031748.2	NP_001026918.2	Q86WS4	CL040_HUMAN	chromosome 12 open reading frame 40	4								p.V4V(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2)	38						TGAATTGGGTCGGGGGGTCCC	0.542													11	7					0	0	1	0	0	T	40020150	C	T	40020150	2	4	81	1	0	0	0	0	0	0	0	1	1692	871	31	1		1	C12orf40	12	40020150	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	256497	40020150	93831745	9453	13069											
C12orf40	283461	broad.mit.edu	37	12	40078672	40078672	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:40078672A>G	ENST00000324616.5	+	10	1444	c.1290A>G	c.(1288-1290)ggA>ggG	p.G430G	C12orf40_ENST00000405531.3_Silent_p.G430G	NM_001031748.2	NP_001026918.2	Q86WS4	CL040_HUMAN	chromosome 12 open reading frame 40	430										breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2)	38						TCCTTAGGGGAAATATACCTT	0.373													8	65					0	0	1	0	0	G	40078672	A	G	40078672	2	3	81	1	0	0	0	0	0	0	0	1	1692	233	9	3		3	C12orf40	12	40078672	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	58522	40078672	93773223	9454	13070											
SLC2A13	114134	broad.mit.edu	37	12	40158579	40158579	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:40158579T>C	ENST00000280871.4	-	8	1577	c.1527A>G	c.(1525-1527)gcA>gcG	p.A509A		NM_052885.3	NP_443117.3	Q96QE2	MYCT_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 13	509						integral to membrane|plasma membrane	myo-inositol:hydrogen symporter activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	29		Lung NSC(34;0.105)|all_lung(34;0.123)				GGCCCAGAAGTGCAGTCCAGG	0.348										HNSCC(50;0.14)			10	59					0	0	1	0	0	C	40158579	T	C	40158579	2	2	81	1	0	0	0	0	0	0	0	1	14597	1683	59	3		3	SLC2A13	12	40158579	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	79907	40158579	93693316	9455	13071											
SLC2A13	114134	broad.mit.edu	37	12	40258676	40258676	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:40258676C>T	ENST00000280871.4	-	6	1257	c.1207G>A	c.(1207-1209)Gta>Ata	p.V403I		NM_052885.3	NP_443117.3	Q96QE2	MYCT_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 13	403						integral to membrane|plasma membrane	myo-inositol:hydrogen symporter activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	29		Lung NSC(34;0.105)|all_lung(34;0.123)				ATGAGTGCTACGGTGGTACCT	0.388										HNSCC(50;0.14)			29	43					0	0	1	0	0	T	40258676	C	T	40258676	3	4	81	1	0	0	0	0	1	0	0	0	14597	536	19	1	759	1	SLC2A13	12	40258676	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	100097	40258676	93593219	9456	13072											
SLC2A13	114134	broad.mit.edu	37	12	40345164	40345164	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:40345164C>A	ENST00000280871.4	-	4	979	c.929G>T	c.(928-930)gGa>gTa	p.G310V	SLC2A13_ENST00000380858.1_Missense_Mutation_p.G310V	NM_052885.3	NP_443117.3	Q96QE2	MYCT_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 13	310						integral to membrane|plasma membrane	myo-inositol:hydrogen symporter activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	29		Lung NSC(34;0.105)|all_lung(34;0.123)				GATCACAGGTCCAGCTTTTTT	0.373										HNSCC(50;0.14)			7	20					2.0095e-06	2.30238e-06	1	1	0	A	40345164	C	A	40345164	3	1	81	1	0	0	0	0	1	0	0	0	14597	855	30	5	1045	5	SLC2A13	12	40345164	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	86488	40345164	93506731	9457	13073											
LRRK2	120892	broad.mit.edu	37	12	40671969	40671969	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:40671969C>T	ENST00000298910.7	+	18	2205	c.2147C>T	c.(2146-2148)gCg>gTg	p.A716V	LRRK2_ENST00000343742.2_Missense_Mutation_p.A716V	NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	716			A -> V.		activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding	p.A716E(2)		NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				CTAGAGAGAGCGTGTGATCAG	0.368													14	114					0	0	1	0	0	T	40671969	C	T	40671969	3	4	81	1	0	0	0	0	1	0	0	0	9078	768	27	1	2217	1	LRRK2	12	40671969	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	326805	40671969	93179926	9458	13074											
LRRK2	120892	broad.mit.edu	37	12	40681204	40681204	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:40681204C>A	ENST00000298910.7	+	20	2610	c.2552C>A	c.(2551-2553)gCt>gAt	p.A851D	LRRK2_ENST00000343742.2_Missense_Mutation_p.A851D	NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	851					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				ATGAAAAGTGCTGTGGAAGAA	0.378													12	21					2.27111e-07	2.65192e-07	1	1	0	A	40681204	C	A	40681204	3	1	81	1	0	0	0	0	1	0	0	0	9078	797	28	4	2630	4	LRRK2	12	40681204	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	9235	40681204	93170691	9459	13075											
LRRK2	120892	broad.mit.edu	37	12	40688680	40688680	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:40688680C>T	ENST00000298910.7	+	22	2900	c.2842C>T	c.(2842-2844)Cga>Tga	p.R948*	LRRK2_ENST00000343742.2_Nonsense_Mutation_p.R948*	NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	948					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				TTTACTGAAGCGAAAAAGAAA	0.284													6	19					0	0	1	0	0	T	40688680	C	T	40688680	4	4	81	1	0	0	0	0	0	1	0	0	9078	760	27	1	2928	1	LRRK2	12	40688680	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	7476	40688680	93163215	9460	13076											
LRRK2	120892	broad.mit.edu	37	12	40692959	40692959	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:40692959G>T	ENST00000298910.7	+	25	3454	c.3396G>T	c.(3394-3396)aaG>aaT	p.K1132N	LRRK2_ENST00000343742.2_Missense_Mutation_p.K1132N	NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1132					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				AGGAACTGAAGATTTTAAACC	0.353													54	70					6.60958e-23	8.69252e-23	1	1	0	T	40692959	G	T	40692959	3	4	81	1	0	0	0	0	1	0	0	0	9078	933	33	4	3494	4	LRRK2	12	40692959	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	4279	40692959	93158936	9461	13077											
LRRK2	120892	broad.mit.edu	37	12	40697776	40697776	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:40697776A>G	ENST00000298910.7	+	27	3675	c.3617A>G	c.(3616-3618)aAt>aGt	p.N1206S	LRRK2_ENST00000343742.2_Missense_Mutation_p.N1206S	NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1206					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				ATGAGCAGCAATGATATTCAG	0.353													4	78					0	0	1	0	0	G	40697776	A	G	40697776	3	3	81	1	0	0	0	0	1	0	0	0	9078	101	4	3	3723	3	LRRK2	12	40697776	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	4817	40697776	93154119	9462	13078											
LRRK2	120892	broad.mit.edu	37	12	40722196	40722196	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:40722196C>A	ENST00000298910.7	+	39	5749	c.5691C>A	c.(5689-5691)gcC>gcA	p.A1897A		NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1897	Protein kinase.				activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				ACCGAGCAGCCTATGAAGGAG	0.303													16	24					4.96729e-08	5.86596e-08	1	1	0	A	40722196	C	A	40722196	2	1	81	1	0	0	0	0	0	0	0	1	9078	668	24	4		4	LRRK2	12	40722196	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	24420	40722196	93129699	9463	13079											
CNTN1	1272	broad.mit.edu	37	12	41419010	41419010	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:41419010G>A	ENST00000551295.2	+	21	2699	c.2582G>A	c.(2581-2583)aGc>aAc	p.S861N	CNTN1_ENST00000347616.1_Missense_Mutation_p.S861N|CNTN1_ENST00000348761.2_Missense_Mutation_p.S850N|CNTN1_ENST00000550305.1_3'UTR	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	861	Fibronectin type-III 3.				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				CAAGTCACCAGCCAAGAGTAC	0.483													49	179					0	0	1	0	0	A	41419010	G	A	41419010	3	1	81	1	0	0	0	0	1	0	0	0	3663	971	34	2	2660	2	CNTN1	12	41419010	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	696814	41419010	92432885	9464	13080											
PDZRN4	29951	broad.mit.edu	37	12	41966493	41966493	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:41966493C>T	ENST00000298919.7	+	10	1520	c.1132C>T	c.(1132-1134)Cga>Tga	p.R378*	PDZRN4_ENST00000539469.2_Nonsense_Mutation_p.R380*|PDZRN4_ENST00000402685.2_Nonsense_Mutation_p.R638*			Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	638							ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				ATGCAAGATTCGAAATCATGG	0.458													22	25					0	0	1	0	0	T	41966493	C	T	41966493	4	4	81	1	0	0	0	0	0	1	0	0	11757	876	31	1	2023	1	PDZRN4	12	41966493	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	547483	41966493	91885402	9465	13081											
PDZRN4	29951	broad.mit.edu	37	12	41966991	41966991	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:41966991G>A	ENST00000298919.7	+	10	2018	c.1630G>A	c.(1630-1632)Gct>Act	p.A544T	PDZRN4_ENST00000539469.2_Missense_Mutation_p.A546T|PDZRN4_ENST00000402685.2_Missense_Mutation_p.A804T			Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	804							ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				AGGTTGTAGCGCTGAAAGCAA	0.517													63	103					0	0	1	0	0	A	41966991	G	A	41966991	3	1	81	1	0	0	0	0	1	0	0	0	11757	1087	38	1	2521	1	PDZRN4	12	41966991	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	498	41966991	91884904	9466	13082											
GXYLT1	283464	broad.mit.edu	37	12	42491368	42491368	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:42491368C>T	ENST00000398675.3	-	7	1269	c.1037G>A	c.(1036-1038)tGt>tAt	p.C346Y	GXYLT1_ENST00000280876.6_Missense_Mutation_p.C315Y	NM_001099650.1|NM_173601.1	NP_001093120.1|NP_775872.1	Q4G148	GXLT1_HUMAN	glucoside xylosyltransferase 1	346					O-glycan processing	integral to membrane	UDP-xylosyltransferase activity			kidney(2)|large_intestine(4)|liver(3)|lung(8)	17						TCCATATATACAATGATCTGG	0.373													44	84					0	0	1	0	0	T	42491368	C	T	42491368	3	4	81	1	0	0	0	0	1	0	0	0	6944	478	17	2	293	2	GXYLT1	12	42491368	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	524377	42491368	91360527	9467	13083											
PPHLN1	51535	broad.mit.edu	37	12	42729702	42729702	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:42729702G>A	ENST00000549190.1	+	2	233	c.52G>A	c.(52-54)Gaa>Aaa	p.E18K	PPHLN1_ENST00000550535.1_3'UTR|PPHLN1_ENST00000256678.8_Intron|PPHLN1_ENST00000395580.3_Missense_Mutation_p.E7K|PPHLN1_ENST00000317560.9_Missense_Mutation_p.E7K|PPHLN1_ENST00000432191.2_5'UTR|PPHLN1_ENST00000552761.1_Missense_Mutation_p.E7K|PPHLN1_ENST00000449194.2_5'UTR|PPHLN1_ENST00000358314.7_5'UTR|PPHLN1_ENST00000395568.2_5'UTR|PPHLN1_ENST00000337898.6_5'UTR			Q8NEY8	PPHLN_HUMAN	periphilin 1	0					keratinization	cytoplasm|nucleus				breast(5)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	16	all_cancers(12;0.00049)|Breast(8;0.165)	Lung NSC(34;0.123)		GBM - Glioblastoma multiforme(48;0.0875)		CAGAAGAGACGAAATGTGGTC	0.368													26	46					0	0	1	0	0	A	42729702	G	A	42729702	3	1	81	1	0	0	0	0	1	0	0	0	12360	1059	37	1	25	1	PPHLN1	12	42729702	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	238334	42729702	91122193	9468	13084											
PPHLN1	51535	broad.mit.edu	37	12	42729720	42729720	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:42729720C>T	ENST00000432191.2	+	2	88	c.16C>T	c.(16-18)Cga>Tga	p.R6*	PPHLN1_ENST00000550535.1_3'UTR|PPHLN1_ENST00000256678.8_Intron|PPHLN1_ENST00000395580.3_Nonsense_Mutation_p.R13*|PPHLN1_ENST00000317560.9_Nonsense_Mutation_p.R13*|PPHLN1_ENST00000552761.1_Nonsense_Mutation_p.R13*|PPHLN1_ENST00000549190.1_Nonsense_Mutation_p.R24*|PPHLN1_ENST00000449194.2_Nonsense_Mutation_p.R6*|PPHLN1_ENST00000358314.7_Nonsense_Mutation_p.R6*|PPHLN1_ENST00000395568.2_Nonsense_Mutation_p.R6*|PPHLN1_ENST00000337898.6_Nonsense_Mutation_p.R6*	NM_001143787.1	NP_001137259.1	Q8NEY8	PPHLN_HUMAN	periphilin 1	0					keratinization	cytoplasm|nucleus				breast(5)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	16	all_cancers(12;0.00049)|Breast(8;0.165)	Lung NSC(34;0.123)		GBM - Glioblastoma multiforme(48;0.0875)		GTCTGAGGGACGATATGAATA	0.378													36	40					0	0	1	0	0	T	42729720	C	T	42729720	4	4	81	1	0	0	0	0	0	1	0	0	12360	528	19	1	43	1	PPHLN1	12	42729720	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	18	42729720	91122175	9469	13085											
PPHLN1	51535	broad.mit.edu	37	12	42778746	42778746	+	Silent	SNP	C	C	T	rs147227639	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:42778746C>T	ENST00000432191.2	+	5	423	c.351C>T	c.(349-351)tcC>tcT	p.S117S	PPHLN1_ENST00000256678.8_Intron|PPHLN1_ENST00000395580.3_Silent_p.S179S|PPHLN1_ENST00000317560.9_Intron|PPHLN1_ENST00000552761.1_Silent_p.S124S|PPHLN1_ENST00000549190.1_Silent_p.S190S|PPHLN1_ENST00000449194.2_Intron|PPHLN1_ENST00000358314.7_Silent_p.S172S|PPHLN1_ENST00000395568.2_Silent_p.S172S|PPHLN1_ENST00000337898.6_Silent_p.S117S	NM_001143787.1	NP_001137259.1	Q8NEY8	PPHLN_HUMAN	periphilin 1	172					keratinization	cytoplasm|nucleus				breast(5)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	16	all_cancers(12;0.00049)|Breast(8;0.165)	Lung NSC(34;0.123)		GBM - Glioblastoma multiforme(48;0.0875)		CCATAGAGTCCGTGCGTCCTG	0.507													13	28					0	0	1	0	0	T	42778746	C	T	42778746	2	4	81	1	0	0	0	0	0	0	0	1	12360	639	23	1		1	PPHLN1	12	42778746	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	49026	42778746	91073149	9470	13086											
PPHLN1	51535	broad.mit.edu	37	12	42840048	42840048	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:42840048T>C	ENST00000432191.2	+	11	1306	c.1234T>C	c.(1234-1236)Ttg>Ctg	p.L412L	PPHLN1_ENST00000256678.8_Silent_p.L341L|PPHLN1_ENST00000317560.9_Intron|PPHLN1_ENST00000395568.2_Silent_p.L436L	NM_001143787.1	NP_001137259.1	Q8NEY8	PPHLN_HUMAN	periphilin 1	436					keratinization	cytoplasm|nucleus				breast(5)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	16	all_cancers(12;0.00049)|Breast(8;0.165)	Lung NSC(34;0.123)		GBM - Glioblastoma multiforme(48;0.0875)		tccagaaaatttgttccttgc	0.478													11	24					0	0	1	0	0	C	42840048	T	C	42840048	2	2	81	1	0	0	0	0	0	0	0	1	12360	1838	64	3		3	PPHLN1	12	42840048	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	61302	42840048	91011847	9471	13087											
PRICKLE1	144165	broad.mit.edu	37	12	42854319	42854319	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:42854319C>A	ENST00000455697.1	-	8	2073	c.1788G>T	c.(1786-1788)aaG>aaT	p.K596N	PRICKLE1_ENST00000445766.2_Missense_Mutation_p.K596N|PRICKLE1_ENST00000548696.1_Missense_Mutation_p.K596N|RP11-328C8.4_ENST00000547824.1_RNA|PRICKLE1_ENST00000345127.3_Missense_Mutation_p.K596N|PRICKLE1_ENST00000552240.1_Missense_Mutation_p.K596N	NM_001144882.1|NM_001144883.1	NP_001138354.1|NP_001138355.1	Q96MT3	PRIC1_HUMAN	prickle homolog 1 (Drosophila)	596					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein import into nucleus	cytosol|nuclear membrane	zinc ion binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(13)|ovary(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	47	all_cancers(12;4.25e-05)|Breast(8;0.176)			GBM - Glioblastoma multiforme(48;0.2)		AACTTAGACTCTTTAAGGACT	0.458													64	92					3.19559e-11	3.95007e-11	1	1	0	A	42854319	C	A	42854319	3	1	81	1	0	0	0	0	1	0	0	0	12538	912	32	4	711	4	PRICKLE1	12	42854319	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	14271	42854319	90997576	9472	13088											
PRICKLE1	144165	broad.mit.edu	37	12	42860069	42860069	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:42860069G>A	ENST00000455697.1	-	6	987	c.702C>T	c.(700-702)gaC>gaT	p.D234D	PRICKLE1_ENST00000445766.2_Silent_p.D234D|PRICKLE1_ENST00000548696.1_Silent_p.D234D|PRICKLE1_ENST00000345127.3_Silent_p.D234D|PRICKLE1_ENST00000552240.1_Silent_p.D234D	NM_001144882.1|NM_001144883.1	NP_001138354.1|NP_001138355.1	Q96MT3	PRIC1_HUMAN	prickle homolog 1 (Drosophila)	234	LIM zinc-binding 2.				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein import into nucleus	cytosol|nuclear membrane	zinc ion binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(13)|ovary(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	47	all_cancers(12;4.25e-05)|Breast(8;0.176)			GBM - Glioblastoma multiforme(48;0.2)		AGGGGCGGCCGTCCTTCATGA	0.542													5	41					0	0	1	0	0	A	42860069	G	A	42860069	2	1	81	1	0	0	0	0	0	0	0	1	12538	1136	40	1		1	PRICKLE1	12	42860069	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	5750	42860069	90991826	9473	13089											
PUS7L	83448	broad.mit.edu	37	12	44139908	44139909	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:44139908_44139909insT	ENST00000416848.2	-	4	1691_1692	c.1203_1204insA	c.(1201-1206)aaacaafs	p.Q402fs	PUS7L_ENST00000551923.1_Frame_Shift_Ins_p.Q402fs|PUS7L_ENST00000431332.3_Frame_Shift_Ins_p.Q89fs|PUS7L_ENST00000344862.5_Frame_Shift_Ins_p.Q402fs	NM_001098615.1|NM_001271826.1	NP_001092085.1|NP_001258755.1	Q9H0K6	PUS7L_HUMAN	pseudouridylate synthase 7 homolog (S. cerevisiae)-like	402					pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding			NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(15)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	all_cancers(12;0.00027)	Lung NSC(34;0.114)|all_lung(34;0.24)		GBM - Glioblastoma multiforme(48;0.0402)		TCATTTATTTGTTTTTTTAAAT	0.317													14	24	---	---	---	---						T	44139909	-	T	44139908	7	5	81	1	0	1	1	0	0	0	0	0	12886	1386	48	0	925	0	PUS7L	12	44139908	Frame_Shift_Ins	INS	-	TCGA-DU-6392-01A-11D-1705-08	1279839	44139908	89711987	9474	13090											
PUS7L	83448	broad.mit.edu	37	12	44148951	44148951	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:44148951T>C	ENST00000416848.2	-	2	586	c.98A>G	c.(97-99)gAc>gGc	p.D33G	PUS7L_ENST00000551923.1_Missense_Mutation_p.D33G|PUS7L_ENST00000553166.1_Missense_Mutation_p.D33G|PUS7L_ENST00000431332.3_Intron|PUS7L_ENST00000344862.5_Missense_Mutation_p.D33G	NM_001098615.1|NM_001271826.1	NP_001092085.1|NP_001258755.1	Q9H0K6	PUS7L_HUMAN	pseudouridylate synthase 7 homolog (S. cerevisiae)-like	33					pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding			NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(15)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	all_cancers(12;0.00027)	Lung NSC(34;0.114)|all_lung(34;0.24)		GBM - Glioblastoma multiforme(48;0.0402)		AACAATAAAGTCACTTGGTGA	0.323													26	35					0	0	1	0	0	C	44148951	T	C	44148951	3	2	81	1	0	0	0	0	1	0	0	0	12886	1667	58	3	2039	3	PUS7L	12	44148951	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	9043	44148951	89702944	9475	13091											
IRAK4	51135	broad.mit.edu	37	12	44176130	44176130	+	Missense_Mutation	SNP	A	A	G	rs147301051		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:44176130A>G	ENST00000431837.1	+	8	898	c.590A>G	c.(589-591)gAa>gGa	p.E197G	IRAK4_ENST00000448290.2_Missense_Mutation_p.E321G|IRAK4_ENST00000551736.1_Missense_Mutation_p.E321G|IRAK4_ENST00000440781.2_Missense_Mutation_p.E197G	NM_001145256.1|NM_001145257.1	NP_001138728.1|NP_001138729.1	Q9NWZ3	IRAK4_HUMAN	interleukin-1 receptor-associated kinase 4	321	Protein kinase.				innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity					all_cancers(12;0.00149)	Lung NSC(34;0.0804)|all_lung(34;0.181)		GBM - Glioblastoma multiforme(48;0.04)		TTACTGGATGAAGCTTTTACT	0.383													4	41					0	0	1	0	0	G	44176130	A	G	44176130	3	3	81	1	0	0	0	0	1	0	0	0	7869	246	9	3	992	3	IRAK4	12	44176130	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	27179	44176130	89675765	9476	13092											
TMEM117	84216	broad.mit.edu	37	12	44781981	44781981	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:44781981A>G	ENST00000266534.3	+	8	1198	c.1071A>G	c.(1069-1071)ctA>ctG	p.L357L	TMEM117_ENST00000546978.1_3'UTR|TMEM117_ENST00000551577.1_3'UTR|TMEM117_ENST00000536799.1_Silent_p.L253L	NM_032256.1	NP_115632.1	Q9H0C3	TM117_HUMAN	transmembrane protein 117	357						endoplasmic reticulum|integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|urinary_tract(1)	23	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.124)		GAACCAAGCTATCCTGGGAAT	0.413													5	61					0	0	1	0	0	G	44781981	A	G	44781981	2	3	81	1	0	0	0	0	0	0	0	1	16091	436	16	3		3	TMEM117	12	44781981	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	605851	44781981	89069914	9477	13093											
NELL2	4753	broad.mit.edu	37	12	45108472	45108472	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:45108472G>T	ENST00000429094.2	-	10	1551	c.1047C>A	c.(1045-1047)gtC>gtA	p.V349V	NELL2_ENST00000551601.1_Silent_p.V348V|NELL2_ENST00000395487.2_Silent_p.V348V|NELL2_ENST00000452445.2_Silent_p.V349V|NELL2_ENST00000333837.4_Silent_p.V372V|NELL2_ENST00000437801.2_Silent_p.V399V|NELL2_ENST00000549027.1_Silent_p.V348V	NM_001145108.1	NP_001138580.1	Q99435	NELL2_HUMAN	NEL-like 2 (chicken)	349	VWFC 2.				cell adhesion	extracellular region	calcium ion binding|protein binding|structural molecule activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		AAGAGGAATAGACTGTATTTC	0.313													21	49					3.28513e-13	4.13666e-13	1	1	0	T	45108472	G	T	45108472	2	4	81	1	0	0	0	0	0	0	0	1	10381	929	33	4		4	NELL2	12	45108472	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	326491	45108472	88743423	9478	13094											
NELL2	4753	broad.mit.edu	37	12	45269650	45269650	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:45269650C>A	ENST00000437801.2	-	2	524	c.153G>T	c.(151-153)atG>atT	p.M51I	NELL2_ENST00000548826.1_Start_Codon_SNP_p.M1I|NELL2_ENST00000551601.1_5'UTR|NELL2_ENST00000452445.2_Start_Codon_SNP_p.M1I|NELL2_ENST00000333837.4_Missense_Mutation_p.M24I|NELL2_ENST00000549027.1_5'UTR|NELL2_ENST00000429094.2_Start_Codon_SNP_p.M1I	NM_001145107.1	NP_001138579.1	Q99435	NELL2_HUMAN	NEL-like 2 (chicken)	1	TSP N-terminal.				cell adhesion	extracellular region	calcium ion binding|protein binding|structural molecule activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		CCCGAGACTCCATGGTGCGGA	0.502													32	56					1.08312e-15	1.38358e-15	1	1	0	A	45269650	C	A	45269650	3	1	81	1	0	0	0	0	1	0	0	0	10381	594	21	5	2583	5	NELL2	12	45269650	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	161178	45269650	88582245	9479	13095											
ANO6	196527	broad.mit.edu	37	12	45810504	45810504	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:45810504C>A	ENST00000320560.8	+	17	2236	c.2034C>A	c.(2032-2034)acC>acA	p.T678T	ANO6_ENST00000425752.2_Silent_p.T678T|ANO6_ENST00000435642.1_Silent_p.T678T|ANO6_ENST00000441606.2_Silent_p.T660T|ANO6_ENST00000426898.2_3'UTR|ANO6_ENST00000423947.3_Silent_p.T699T	NM_001025356.2	NP_001020527.2	Q4KMQ2	ANO6_HUMAN	anoctamin 6	678					activation of blood coagulation via clotting cascade|phosphatidylserine exposure on blood platelet	chloride channel complex|plasma membrane	chloride channel activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						GGTTCGTCACCTTATTTGTGG	0.443													12	25					0.0202918	0.0209342	1	1	0	A	45810504	C	A	45810504	2	1	81	1	0	0	0	0	0	0	0	1	695	668	24	4		4	ANO6	12	45810504	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	540854	45810504	88041391	9480	13096											
ARID2	196528	broad.mit.edu	37	12	46211663	46211663	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:46211663T>C	ENST00000334344.6	+	5	801	c.629T>C	c.(628-630)tTt>tCt	p.F210S	ARID2_ENST00000422737.1_Missense_Mutation_p.F61S	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	210					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		GCCGGGGTGTTTGACGACAGT	0.318			"N, S, F"		hepatocellular carcinoma								7	32					0	0	1	0	0	C	46211663	T	C	46211663	3	2	81	1	0	0	0	0	1	0	0	0	912	1841	64	3	647	3	ARID2	12	46211663	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	401159	46211663	87640232	9481	13097											
ARID2	196528	broad.mit.edu	37	12	46231168	46231168	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:46231168T>C	ENST00000334344.6	+	9	1260	c.1088T>C	c.(1087-1089)cTa>cCa	p.L363P	ARID2_ENST00000422737.1_Missense_Mutation_p.L214P|ARID2_ENST00000479608.1_3'UTR	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	363					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		ACAAAATGTCTAATGTCAAGG	0.303			"N, S, F"		hepatocellular carcinoma								10	82					0	0	1	0	0	C	46231168	T	C	46231168	3	2	81	1	0	0	0	0	1	0	0	0	912	1522	53	3	1122	3	ARID2	12	46231168	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	19505	46231168	87620727	9482	13098											
ARID2	196528	broad.mit.edu	37	12	46233126	46233126	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:46233126C>A	ENST00000334344.6	+	11	1517	c.1345C>A	c.(1345-1347)Ctg>Atg	p.L449M	ARID2_ENST00000422737.1_Missense_Mutation_p.L300M|ARID2_ENST00000444670.1_Intron|ARID2_ENST00000479608.1_3'UTR	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	449					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		GTTAGTGTGTCTGGTTTCTAT	0.338			"N, S, F"		hepatocellular carcinoma								13	42					1.5842e-08	1.88841e-08	1	1	0	A	46233126	C	A	46233126	3	1	81	1	0	0	0	0	1	0	0	0	912	912	32	4	1387	4	ARID2	12	46233126	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1958	46233126	87618769	9483	13099											
ARID2	196528	broad.mit.edu	37	12	46244611	46244611	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:46244611C>A	ENST00000334344.6	+	15	2877	c.2705C>A	c.(2704-2706)cCt>cAt	p.P902H	ARID2_ENST00000422737.1_Missense_Mutation_p.P753H|ARID2_ENST00000444670.1_Missense_Mutation_p.P512H|ARID2_ENST00000479608.1_3'UTR	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	902	Gln-rich.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		AAACCTCTCCCTTCTCAGCAA	0.468			"N, S, F"		hepatocellular carcinoma								12	99					2.80697e-09	3.37799e-09	1	1	0	A	46244611	C	A	46244611	3	1	81	1	0	0	0	0	1	0	0	0	912	681	24	4	2763	4	ARID2	12	46244611	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	11485	46244611	87607284	9484	13100											
ARID2	196528	broad.mit.edu	37	12	46244955	46244955	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:46244955C>T	ENST00000334344.6	+	15	3221	c.3049C>T	c.(3049-3051)Cat>Tat	p.H1017Y	ARID2_ENST00000422737.1_Missense_Mutation_p.H868Y|ARID2_ENST00000444670.1_Missense_Mutation_p.H627Y|ARID2_ENST00000479608.1_3'UTR	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	1017	Gln-rich.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		ACAGCAGCAACATTCACCAGC	0.512			"N, S, F"		hepatocellular carcinoma								18	36					0	0	1	0	0	T	46244955	C	T	46244955	3	4	81	1	0	0	0	0	1	0	0	0	912	478	17	2	3107	2	ARID2	12	46244955	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	344	46244955	87606940	9485	13101											
ARID2	196528	broad.mit.edu	37	12	46245184	46245184	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:46245184C>A	ENST00000334344.6	+	15	3450	c.3278C>A	c.(3277-3279)cCt>cAt	p.P1093H	ARID2_ENST00000422737.1_Missense_Mutation_p.P944H|ARID2_ENST00000444670.1_Missense_Mutation_p.P703H|ARID2_ENST00000479608.1_3'UTR	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	1093	Gln-rich.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		GCAAGAGCTCCTAGCCCTCAG	0.517			"N, S, F"		hepatocellular carcinoma								6	55					0.27861	0.279815	1	1	0	A	46245184	C	A	46245184	3	1	81	1	0	0	0	0	1	0	0	0	912	681	24	4	3336	4	ARID2	12	46245184	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	229	46245184	87606711	9486	13102											
ARID2	196528	broad.mit.edu	37	12	46245654	46245654	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:46245654G>A	ENST00000334344.6	+	15	3920	c.3748G>A	c.(3748-3750)Gca>Aca	p.A1250T	ARID2_ENST00000422737.1_Missense_Mutation_p.A1101T|ARID2_ENST00000444670.1_Missense_Mutation_p.A860T|ARID2_ENST00000479608.1_3'UTR	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	1250					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		GGAGGAGGAAGCAAAGGAAGC	0.468			"N, S, F"		hepatocellular carcinoma								14	25					0	0	1	0	0	A	46245654	G	A	46245654	3	1	81	1	0	0	0	0	1	0	0	0	912	971	34	2	3806	2	ARID2	12	46245654	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	470	46245654	87606241	9487	13103											
ARID2	196528	broad.mit.edu	37	12	46246095	46246095	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:46246095G>T	ENST00000334344.6	+	15	4361	c.4189G>T	c.(4189-4191)Ggg>Tgg	p.G1397W	ARID2_ENST00000422737.1_Missense_Mutation_p.G1248W|ARID2_ENST00000444670.1_Missense_Mutation_p.G1007W|ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000457135.1_Missense_Mutation_p.G5W	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	1397					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		GGAACCACAAGGGACTTTAGA	0.368			"N, S, F"		hepatocellular carcinoma								25	45					3.28513e-13	4.13666e-13	1	1	0	T	46246095	G	T	46246095	3	4	81	1	0	0	0	0	1	0	0	0	912	1000	35	4	4247	4	ARID2	12	46246095	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	441	46246095	87605800	9488	13104											
ARID2	196528	broad.mit.edu	37	12	46246205	46246205	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:46246205G>T	ENST00000334344.6	+	15	4471	c.4299G>T	c.(4297-4299)gaG>gaT	p.E1433D	ARID2_ENST00000422737.1_Missense_Mutation_p.E1284D|ARID2_ENST00000444670.1_Missense_Mutation_p.E1043D|ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000457135.1_Missense_Mutation_p.E41D	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	1433					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		GTATACAGGAGGCTTCAAATG	0.423			"N, S, F"		hepatocellular carcinoma								11	116					1.08611e-07	1.27405e-07	1	1	0	T	46246205	G	T	46246205	3	4	81	1	0	0	0	0	1	0	0	0	912	991	35	4	4357	4	ARID2	12	46246205	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	110	46246205	87605690	9489	13105											
ARID2	196528	broad.mit.edu	37	12	46246368	46246368	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:46246368G>A	ENST00000334344.6	+	15	4634	c.4462G>A	c.(4462-4464)Gac>Aac	p.D1488N	ARID2_ENST00000422737.1_Missense_Mutation_p.D1339N|ARID2_ENST00000444670.1_Missense_Mutation_p.D1098N|ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000457135.1_Missense_Mutation_p.D96N	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	1488					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		AGCAGTTCCCGACTCAGGATC	0.458			"N, S, F"		hepatocellular carcinoma								31	58					0	0	1	0	0	A	46246368	G	A	46246368	3	1	81	1	0	0	0	0	1	0	0	0	912	1058	37	1	4520	1	ARID2	12	46246368	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	163	46246368	87605527	9490	13106											
SLC38A1	81539	broad.mit.edu	37	12	46594935	46594935	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:46594935C>T	ENST00000398637.5	-	13	1643	c.949G>A	c.(949-951)Gcc>Acc	p.A317T	SLC38A1_ENST00000439706.1_Missense_Mutation_p.A317T|SLC38A1_ENST00000552197.1_Missense_Mutation_p.A317T|SLC38A1_ENST00000549049.1_Missense_Mutation_p.A317T|SLC38A1_ENST00000549633.1_5'UTR|SLC38A1_ENST00000546893.1_Missense_Mutation_p.A317T	NM_001077484.1|NM_001278387.1|NM_001278388.1|NM_001278389.1|NM_030674.3	NP_001070952.1|NP_001265316.1|NP_001265317.1|NP_001265318.1|NP_109599.3	Q9H2H9	S38A1_HUMAN	solute carrier family 38, member 1	317					cellular nitrogen compound metabolic process|neurotransmitter uptake	integral to membrane|plasma membrane	sodium:amino acid symporter activity	p.A317T(1)		NS(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(2)	23	Lung SC(27;0.137)|Renal(347;0.236)		all cancers(1;0.00805)|OV - Ovarian serous cystadenocarcinoma(5;0.0106)|Epithelial(2;0.0344)			ACAAACATGGCGAAAAAGGAG	0.289													10	21					0	0	1	0	0	T	46594935	C	T	46594935	3	4	81	1	0	0	0	0	1	0	0	0	14656	768	27	1	534	1	SLC38A1	12	46594935	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	348567	46594935	87256960	9491	13107											
AMIGO2	347902	broad.mit.edu	37	12	47472371	47472371	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:47472371C>T	ENST00000266581.4	-	2	881	c.415G>A	c.(415-417)Gag>Aag	p.E139K	AMIGO2_ENST00000321382.3_Missense_Mutation_p.E139K|AMIGO2_ENST00000429635.1_Missense_Mutation_p.E139K|AMIGO2_ENST00000550413.1_Missense_Mutation_p.E139K	NM_181847.4	NP_862830.1	Q86SJ2	AMGO2_HUMAN	adhesion molecule with Ig-like domain 2	139					heterophilic cell-cell adhesion|homophilic cell adhesion	integral to membrane|nucleus|plasma membrane				endometrium(2)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	Renal(347;0.138)|Lung SC(27;0.192)					ACCTTCAACTCTTGGAATACA	0.438													41	68					0	0	1	0	0	T	47472371	C	T	47472371	3	4	81	1	0	0	0	0	1	0	0	0	572	922	32	2	1157	2	AMIGO2	12	47472371	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	877436	47472371	86379524	9492	13108											
AMIGO2	347902	broad.mit.edu	37	12	47472640	47472640	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:47472640G>A	ENST00000266581.4	-	2	612	c.146C>T	c.(145-147)aCt>aTt	p.T49I	AMIGO2_ENST00000321382.3_Missense_Mutation_p.T49I|AMIGO2_ENST00000429635.1_Missense_Mutation_p.T49I|AMIGO2_ENST00000550413.1_Missense_Mutation_p.T49I	NM_181847.4	NP_862830.1	Q86SJ2	AMGO2_HUMAN	adhesion molecule with Ig-like domain 2	49	LRRNT.				heterophilic cell-cell adhesion|homophilic cell adhesion	integral to membrane|nucleus|plasma membrane				endometrium(2)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	Renal(347;0.138)|Lung SC(27;0.192)					GACGATGTCAGTGGCACAGAT	0.547													14	71					0	0	1	0	0	A	47472640	G	A	47472640	3	1	81	1	0	0	0	0	1	0	0	0	572	1029	36	2	1426	2	AMIGO2	12	47472640	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	269	47472640	86379255	9493	13109											
ENDOU	8909	broad.mit.edu	37	12	48110168	48110168	+	Translation_Start_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:48110168C>A	ENST00000542202.1	-	0	415				ENDOU_ENST00000422538.3_Missense_Mutation_p.Q222H|ENDOU_ENST00000545824.2_Missense_Mutation_p.Q159H|RP1-197B17.3_ENST00000547799.1_lincRNA|ENDOU_ENST00000229003.3_Missense_Mutation_p.Q181H			P21128	ENDOU_HUMAN	endonuclease, polyU-specific						female pregnancy|immune response|proteolysis	cytoplasm|extracellular space|plasma membrane	endoribonuclease activity|growth factor activity|manganese ion binding|polysaccharide binding|RNA binding|scavenger receptor activity|serine-type peptidase activity			autonomic_ganglia(1)|endometrium(2)|large_intestine(4)|lung(2)|ovary(3)|pancreas(1)|stomach(1)	14						CGGCCAGCTCCTGGGCACTGA	0.562											OREG0021752	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	54					0.248553	0.249876	1	1	0	A	48110168	C	A	48110168	1	1	81	1	0	0	0	0	0	0	0	0	5144	680	24	4		4	ENDOU	12	48110168	Translation_Start_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	637528	48110168	85741727	9494	13110											
ENDOU	8909	broad.mit.edu	37	12	48110685	48110685	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:48110685C>T	ENST00000422538.3	-	5	661	c.539G>A	c.(538-540)cGc>cAc	p.R180H	ENDOU_ENST00000545824.2_Missense_Mutation_p.R117H|RP1-197B17.3_ENST00000547799.1_lincRNA|ENDOU_ENST00000542202.1_5'UTR|ENDOU_ENST00000229003.3_Missense_Mutation_p.R139H	NM_001172439.1	NP_001165910.1	P21128	ENDOU_HUMAN	endonuclease, polyU-specific	180					female pregnancy|immune response|proteolysis	cytoplasm|extracellular space|plasma membrane	endoribonuclease activity|growth factor activity|manganese ion binding|polysaccharide binding|RNA binding|scavenger receptor activity|serine-type peptidase activity			autonomic_ganglia(1)|endometrium(2)|large_intestine(4)|lung(2)|ovary(3)|pancreas(1)|stomach(1)	14						CTTTGGGCAGCGATCCACTTG	0.483											OREG0021752	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	88	25					0	0	1	0	0	T	48110685	C	T	48110685	3	4	81	1	0	0	0	0	1	0	0	0	5144	768	27	1	717	1	ENDOU	12	48110685	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	517	48110685	85741210	9495	13111											
RAPGEF3	10411	broad.mit.edu	37	12	48141499	48141499	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:48141499A>T	ENST00000405493.2	-	14	1552	c.1343T>A	c.(1342-1344)cTc>cAc	p.L448H	RAPGEF3_ENST00000171000.4_Missense_Mutation_p.L448H|RAPGEF3_ENST00000449771.2_Missense_Mutation_p.L490H|RAPGEF3_ENST00000548919.1_Missense_Mutation_p.L448H|RAPGEF3_ENST00000389212.3_Missense_Mutation_p.L490H|RAPGEF3_ENST00000549151.1_Missense_Mutation_p.L448H|RAPGEF3_ENST00000395358.3_Missense_Mutation_p.L490H	NM_001098532.2|NM_006105.5	NP_001092002|NP_006096	A8K2G5	A8K2G5_HUMAN	Rap guanine nucleotide exchange factor (GEF) 3	448					regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex	cAMP-dependent protein kinase regulator activity|guanyl-nucleotide exchange factor activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(7)	25	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.0375)		AGGTACCTGGAGGAAGCTGGT	0.597													4	38					0	0	1	0	0	T	48141499	A	T	48141499	3	4	81	1	0	0	0	0	1	0	0	0	13097	304	11	5	1362	5	RAPGEF3	12	48141499	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	30814	48141499	85710396	9496	13112											
VDR	7421	broad.mit.edu	37	12	48251023	48251023	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:48251023G>A	ENST00000229022.3	-	7	753	c.472C>T	c.(472-474)Cgt>Tgt	p.R158C	VDR_ENST00000549336.1_Missense_Mutation_p.R158C|VDR_ENST00000395324.2_Missense_Mutation_p.R158C|VDR_ENST00000535672.1_Missense_Mutation_p.R126C|VDR_ENST00000550325.1_Missense_Mutation_p.R208C	NM_001017535.1	NP_001017535.1	P11473	VDR_HUMAN	vitamin D (1,25- dihydroxyvitamin D3) receptor	158	Hinge.				decidualization|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of vitamin D 24-hydroxylase activity|regulation of calcidiol 1-monooxygenase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	retinoid X receptor binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|vitamin D3 receptor activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(3)|skin(2)	22		Acute lymphoblastic leukemia(13;0.109)|all_hematologic(14;0.214)		GBM - Glioblastoma multiforme(48;0.17)	Calcidiol(DB00146)|Calcipotriol(DB02300)|Calcitriol(DB00136)|Dihydrotachysterol(DB01070)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)	TCATTCACACGAACTGGAGGC	0.552													11	24					0	0	1	0	0	A	48251023	G	A	48251023	3	1	81	1	0	0	0	0	1	0	0	0	17209	1058	37	1	831	1	VDR	12	48251023	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	109524	48251023	85600872	9497	13113											
TMEM106C	79022	broad.mit.edu	37	12	48361031	48361031	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:48361031G>C	ENST00000429772.2	+	7	756	c.643G>C	c.(643-645)Gtg>Ctg	p.V215L	TMEM106C_ENST00000550552.1_Missense_Mutation_p.V196L|TMEM106C_ENST00000449758.2_Missense_Mutation_p.V196L|TMEM106C_ENST00000552546.1_Missense_Mutation_p.V144L|TMEM106C_ENST00000552561.1_Missense_Mutation_p.V215L|TMEM106C_ENST00000549288.1_Intron|TMEM106C_ENST00000256686.6_Missense_Mutation_p.V196L	NM_001143842.1	NP_001137314.1	Q9BVX2	T106C_HUMAN	transmembrane protein 106C	215						endoplasmic reticulum membrane|integral to membrane				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|skin(3)|upper_aerodigestive_tract(1)	14		Acute lymphoblastic leukemia(13;0.11)		GBM - Glioblastoma multiforme(48;0.241)		GCACAACATAGTGATCTTCAT	0.498													15	160					0	0	1	0	0	C	48361031	G	C	48361031	3	2	81	1	0	0	0	0	1	0	0	0	16082	1029	36	4	665	4	TMEM106C	12	48361031	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	110008	48361031	85490864	9498	13114											
COL2A1	1280	broad.mit.edu	37	12	48367317	48367317	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:48367317C>T	ENST00000380518.3	-	54	4501	c.4337G>A	c.(4336-4338)gGc>gAc	p.G1446D	COL2A1_ENST00000493991.1_5'UTR|COL2A1_ENST00000337299.6_Missense_Mutation_p.G1377D	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	1446	Fibrillar collagen NC1.				axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	AACAGTCTTGCCCCACTTACC	0.532													17	35					0	0	1	0	0	T	48367317	C	T	48367317	3	4	81	1	0	0	0	0	1	0	0	0	3710	739	26	2	130	2	COL2A1	12	48367317	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	6286	48367317	85484578	9499	13115											
COL2A1	1280	broad.mit.edu	37	12	48374399	48374399	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:48374399C>T	ENST00000380518.3	-	39	2727	c.2563G>A	c.(2563-2565)Ggc>Agc	p.G855S	COL2A1_ENST00000493991.1_5'UTR|COL2A1_ENST00000337299.6_Missense_Mutation_p.G786S	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	855	Triple-helical region.		G -> S (in SEDC).		axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	CCTTTCTGGCCGGCCTCTCCT	0.617													5	6					0	0	1	0	0	T	48374399	C	T	48374399	3	4	81	1	0	0	0	0	1	0	0	0	3710	652	23	1	1964	1	COL2A1	12	48374399	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	7082	48374399	85477496	9500	13116											
COL2A1	1280	broad.mit.edu	37	12	48379542	48379542	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:48379542C>T	ENST00000380518.3	-	25	1813	c.1649G>A	c.(1648-1650)cGt>cAt	p.R550H	COL2A1_ENST00000493991.1_5'UTR|COL2A1_ENST00000337299.6_Missense_Mutation_p.R481H	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	550	Triple-helical region.				axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	TTCTCCAGGACGGCCAGGGTC	0.647													6	16					0	0	1	0	0	T	48379542	C	T	48379542	3	4	81	1	0	0	0	0	1	0	0	0	3710	536	19	1	2934	1	COL2A1	12	48379542	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	5143	48379542	85472353	9501	13117											
OR10AD1	121275	broad.mit.edu	37	12	48596366	48596366	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:48596366T>G	ENST00000310248.2	-	1	804	c.710A>C	c.(709-711)aAg>aCg	p.K237T		NM_001004134.1	NP_001004134.1	Q8NGE0	O10AD_HUMAN	olfactory receptor, family 10, subfamily AD, member 1	237					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|stomach(1)|urinary_tract(1)	9						AGAGAAAGTCTTCCCCCGACC	0.532													12	21					0	0	1	0	0	G	48596366	T	G	48596366	3	3	81	1	0	0	0	0	1	0	0	0	10944	1609	56	5	247	5	OR10AD1	12	48596366	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	216824	48596366	85255529	9502	13118											
ZNF641	121274	broad.mit.edu	37	12	48741014	48741014	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:48741014G>A	ENST00000448928.3	-	3	352	c.297C>T	c.(295-297)ggC>ggT	p.G99G	ZNF641_ENST00000547026.1_Intron|ZNF641_ENST00000544117.2_Intron|ZNF641_ENST00000301042.3_Intron	NM_001172682.1	NP_001166153.1	Q96N77	ZN641_HUMAN	zinc finger protein 641	117					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(3)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	12						CACAGGAGACGCCAAGGGAAG	0.527													15	22					0	0	1	0	0	A	48741014	G	A	48741014	2	1	81	1	0	0	0	0	0	0	0	1	18114	1074	38	1		1	ZNF641	12	48741014	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	144648	48741014	85110881	9503	13119											
ANP32D	23519	broad.mit.edu	37	12	48866754	48866754	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:48866754C>A	ENST00000266594.1	+	1	307	c.307C>A	c.(307-309)Ctc>Atc	p.L103I		NM_012404.2	NP_036536.2	O95626	AN32D_HUMAN	acidic (leucine-rich) nuclear phosphoprotein 32 family, member D	103										central_nervous_system(1)|large_intestine(2)|lung(3)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	9						AATTAAAGACCTCAGCACAAT	0.408													27	37					9.90768e-06	1.12099e-05	1	1	0	A	48866754	C	A	48866754	3	1	81	1	0	0	0	0	1	0	0	0	702	681	24	4	309	4	ANP32D	12	48866754	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	125740	48866754	84985141	9504	13120											
DDX23	9416	broad.mit.edu	37	12	49224261	49224261	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:49224261G>T	ENST00000308025.3	-	17	2533	c.2454C>A	c.(2452-2454)atC>atA	p.I818I		NM_004818.2	NP_004809.2	Q9BUQ8	DDX23_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 23	818						catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent RNA helicase activity|nucleic acid binding|protein binding			NS(1)|cervix(1)|kidney(4)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(3)	36						GTCAGGCAAAGATGGTCTCTT	0.567													6	44					5.9392e-07	6.87481e-07	1	1	0	T	49224261	G	T	49224261	2	4	81	1	0	0	0	0	0	0	0	1	4373	932	33	4		4	DDX23	12	49224261	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	357507	49224261	84627634	9505	13121											
DDX23	9416	broad.mit.edu	37	12	49230527	49230527	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:49230527T>C	ENST00000308025.3	-	10	1140	c.1061A>G	c.(1060-1062)gAt>gGt	p.D354G		NM_004818.2	NP_004809.2	Q9BUQ8	DDX23_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 23	354						catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent RNA helicase activity|nucleic acid binding|protein binding			NS(1)|cervix(1)|kidney(4)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(3)	36						CCAATGACGATCATCCCAGCG	0.527													12	151					0	0	1	0	0	C	49230527	T	C	49230527	3	2	81	1	0	0	0	0	1	0	0	0	4373	1435	50	3	1433	3	DDX23	12	49230527	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	6266	49230527	84621368	9506	13122											
DDX23	9416	broad.mit.edu	37	12	49239515	49239515	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:49239515C>A	ENST00000308025.3	-	2	130	c.51G>T	c.(49-51)aaG>aaT	p.K17N	DDX23_ENST00000553182.1_5'UTR	NM_004818.2	NP_004809.2	Q9BUQ8	DDX23_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 23	17						catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent RNA helicase activity|nucleic acid binding|protein binding			NS(1)|cervix(1)|kidney(4)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(3)	36						TCCTTTCCTCCTTGGAAGGTG	0.507													24	28					6.32553e-13	7.94418e-13	1	1	0	A	49239515	C	A	49239515	3	1	81	1	0	0	0	0	1	0	0	0	4373	680	24	4	2475	4	DDX23	12	49239515	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	8988	49239515	84612380	9507	13123											
RND1	27289	broad.mit.edu	37	12	49251978	49251978	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:49251978C>T	ENST00000309739.5	-	5	630	c.500G>A	c.(499-501)gGc>gAc	p.G167D		NM_014470.3	NP_055285.1	Q92730	RND1_HUMAN	Rho family GTPase 1	167					actin filament organization|axon guidance|negative regulation of cell adhesion|neuron remodeling|small GTPase mediated signal transduction	adherens junction|cytoskeleton|cytosol	GTP binding|GTPase activity|receptor binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|ovary(2)|skin(1)|urinary_tract(1)	10						GAAAGCTGAGCCTTCCAGGTA	0.557													14	37					0	0	1	0	0	T	49251978	C	T	49251978	3	4	81	1	0	0	0	0	1	0	0	0	13471	739	26	2	202	2	RND1	12	49251978	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	12463	49251978	84599917	9508	13124											
CCDC65	85478	broad.mit.edu	37	12	49298804	49298804	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:49298804C>T	ENST00000266984.5	+	2	435	c.208C>T	c.(208-210)Cgg>Tgg	p.R70W	CCDC65_ENST00000320516.4_Missense_Mutation_p.R70W|RP11-302B13.5_ENST00000398092.4_Intron			Q8IXS2	CCD65_HUMAN	coiled-coil domain containing 65	70										breast(1)|large_intestine(4)|lung(7)|ovary(1)|skin(2)	15						AACTGTCCTTCGGGAAGTCAA	0.448													32	39					0	0	1	0	0	T	49298804	C	T	49298804	3	4	81	1	0	0	0	0	1	0	0	0	2857	875	31	1	214	1	CCDC65	12	49298804	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	46826	49298804	84553091	9509	13125											
CCDC65	85478	broad.mit.edu	37	12	49312551	49312551	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:49312551G>T	ENST00000266984.5	+	6	1118	c.891G>T	c.(889-891)aaG>aaT	p.K297N	CCDC65_ENST00000320516.4_Missense_Mutation_p.K297N|RP11-302B13.5_ENST00000398092.4_Intron			Q8IXS2	CCD65_HUMAN	coiled-coil domain containing 65	297										breast(1)|large_intestine(4)|lung(7)|ovary(1)|skin(2)	15						GTAATGACAAGGAATTGGTCC	0.458													11	74					3.03607e-14	3.84953e-14	1	1	0	T	49312551	G	T	49312551	3	4	81	1	0	0	0	0	1	0	0	0	2857	991	35	4	913	4	CCDC65	12	49312551	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	13747	49312551	84539344	9510	13126											
PRKAG1	5571	broad.mit.edu	37	12	49396702	49396702	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:49396702C>A	ENST00000548065.1	-	12	1432	c.976G>T	c.(976-978)Ggt>Tgt	p.G326C	RP11-386G11.5_ENST00000552933.1_RNA|RP11-386G11.5_ENST00000547395.1_RNA|PRKAG1_ENST00000316299.5_Missense_Mutation_p.G335C|PRKAG1_ENST00000552212.1_Missense_Mutation_p.G294C|PRKAG1_ENST00000395170.3_Missense_Mutation_p.G242C|PRKAG1_ENST00000547306.1_Missense_Mutation_p.G275C|RP11-386G11.5_ENST00000552284.1_RNA|RP11-386G11.5_ENST00000547866.1_RNA			P54619	AAKG1_HUMAN	protein kinase, AMP-activated, gamma 1 non-catalytic subunit	326	CBS 4.				cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|positive regulation of protein kinase activity|regulation of fatty acid oxidation|regulation of glycolysis|spermatogenesis	cytosol	cAMP-dependent protein kinase activity|cAMP-dependent protein kinase regulator activity|protein kinase binding			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	9						TTCTCTCCACCTGTGAGCACC	0.542													9	25					0.00829132	0.00865729	1	1	0	A	49396702	C	A	49396702	3	1	81	1	0	0	0	0	1	0	0	0	12552	681	24	4	23	4	PRKAG1	12	49396702	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	84151	49396702	84455193	9511	13127											
TUBA1A	7846	broad.mit.edu	37	12	49580426	49580426	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:49580426G>A	ENST00000301071.7	-	2	538	c.194C>T	c.(193-195)gCa>gTa	p.A65V	TUBA1A_ENST00000546918.1_Missense_Mutation_p.A65V|TUBA1A_ENST00000295766.5_Missense_Mutation_p.A65V|TUBA1A_ENST00000550767.1_Missense_Mutation_p.A30V	NM_001270400.1|NM_006009.3	NP_001257329.1|NP_006000.2	Q71U36	TBA1A_HUMAN	tubulin, alpha 1a	65					'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|structural molecule activity			stomach(1)|upper_aerodigestive_tract(1)	2						TACAAACACTGCCCGGGGCAC	0.572													10	79					0	0	1	0	0	A	49580426	G	A	49580426	3	1	81	1	0	0	0	0	1	0	0	0	16805	1319	46	2	1173	2	TUBA1A	12	49580426	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	183724	49580426	84271469	9512	13128											
PRPH	5630	broad.mit.edu	37	12	49691175	49691175	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:49691175G>T	ENST00000257860.4	+	6	2531	c.1032G>T	c.(1030-1032)gaG>gaT	p.E344D	RP11-161H23.9_ENST00000553259.1_RNA	NM_006262.3	NP_006253.2	P41219	PERI_HUMAN	peripherin	344	Coil 2.|Rod.						structural molecule activity			kidney(1)|large_intestine(2)|lung(8)|skin(1)	12						GAGAGCTGGAGGAGCAGTTCG	0.672											OREG0021790	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	11					2.0095e-06	2.30238e-06	1	1	0	T	49691175	G	T	49691175	3	4	81	1	0	0	0	0	1	0	0	0	12628	991	35	4	1054	4	PRPH	12	49691175	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	110749	49691175	84160720	9513	13129											
TROAP	10024	broad.mit.edu	37	12	49724763	49724763	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:49724763G>T	ENST00000551245.1	+	13	2246	c.2135G>T	c.(2134-2136)aGg>aTg	p.R712M	TROAP_ENST00000257909.3_Intron|TROAP_ENST00000547923.1_Intron			Q12815	TROAP_HUMAN	trophinin associated protein	729					cell adhesion	cytoplasm				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	32						GAACACAAGAGGTCCTCACCT	0.617													24	25					5.35356e-11	6.60132e-11	1	1	0	T	49724763	G	T	49724763	3	4	81	1	0	0	0	0	1	0	0	0	16636	1015	35	4		4	TROAP	12	49724763	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	33588	49724763	84127132	9514	13130											
SPATS2	65244	broad.mit.edu	37	12	49918607	49918607	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:49918607A>C	ENST00000553127.1	+	14	1767	c.1254A>C	c.(1252-1254)aaA>aaC	p.K418N	SPATS2_ENST00000321898.6_Missense_Mutation_p.K418N|SPATS2_ENST00000552918.1_Missense_Mutation_p.K418N			Q86XZ4	SPAS2_HUMAN	spermatogenesis associated, serine-rich 2	418						cytoplasm				breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(1)|prostate(1)|urinary_tract(4)	21						CTAACAAGAAAAACTTTGCAC	0.532													30	38					0	0	1	0	0	C	49918607	A	C	49918607	3	2	81	1	0	0	0	0	1	0	0	0	15075	11	1	5	1296	5	SPATS2	12	49918607	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	193844	49918607	83933288	9515	13131											
KCNH3	23416	broad.mit.edu	37	12	49950198	49950198	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:49950198G>A	ENST00000257981.6	+	13	2774	c.2514G>A	c.(2512-2514)aaG>aaA	p.K838K		NM_012284.1	NP_036416.1	Q9ULD8	KCNH3_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 3	838					regulation of transcription, DNA-dependent	integral to membrane	two-component sensor activity|voltage-gated potassium channel activity			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36						ACCAGCCCAAGTTCTCTTTCC	0.617													32	59					0	0	1	0	0	A	49950198	G	A	49950198	2	1	81	1	0	0	0	0	0	0	0	1	8077	1020	36	2		2	KCNH3	12	49950198	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	31591	49950198	83901697	9516	13132											
KCNH3	23416	broad.mit.edu	37	12	49950231	49950231	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:49950231A>G	ENST00000257981.6	+	13	2807	c.2547A>G	c.(2545-2547)gaA>gaG	p.E849E		NM_012284.1	NP_036416.1	Q9ULD8	KCNH3_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 3	849					regulation of transcription, DNA-dependent	integral to membrane	two-component sensor activity|voltage-gated potassium channel activity			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36						CTGGCCCGGAATGTAGCAGCA	0.617													9	51					0	0	1	0	0	G	49950231	A	G	49950231	2	3	81	1	0	0	0	0	0	0	0	1	8077	98	4	3		3	KCNH3	12	49950231	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	33	49950231	83901664	9517	13133											
FAM186B	84070	broad.mit.edu	37	12	49982250	49982250	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:49982250G>T	ENST00000544141.1	-	6	2850	c.2251C>A	c.(2251-2253)Ctg>Atg	p.L751M	FAM186B_ENST00000257894.2_Missense_Mutation_p.L841M|FAM186B_ENST00000551047.1_Intron			Q8IYM0	F186B_HUMAN	family with sequence similarity 186, member B	841						protein complex				breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GCCATCTGCAGGGGCACACAT	0.637													28	55					2.65835e-16	3.41045e-16	1	1	0	T	49982250	G	T	49982250	3	4	81	1	0	0	0	0	1	0	0	0	5543	991	35	4	168	4	FAM186B	12	49982250	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	32019	49982250	83869645	9518	13134											
FAM186B	84070	broad.mit.edu	37	12	49992709	49992709	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:49992709T>C	ENST00000544141.1	-	5	2522	c.1923A>G	c.(1921-1923)gtA>gtG	p.V641V	FAM186B_ENST00000257894.2_Silent_p.V731V|FAM186B_ENST00000551047.1_Intron			Q8IYM0	F186B_HUMAN	family with sequence similarity 186, member B	731						protein complex				breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TCATGATTTGTACATGGTTGA	0.507													7	39					0	0	1	0	0	C	49992709	T	C	49992709	2	2	81	1	0	0	0	0	0	0	0	1	5543	1625	57	3		3	FAM186B	12	49992709	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	10459	49992709	83859186	9519	13135											
FAM186B	84070	broad.mit.edu	37	12	49994230	49994230	+	Missense_Mutation	SNP	C	C	T	rs150662932		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:49994230C>T	ENST00000544141.1	-	4	1522	c.923G>A	c.(922-924)cGc>cAc	p.R308H	FAM186B_ENST00000257894.2_Missense_Mutation_p.R398H|FAM186B_ENST00000551047.1_Intron|PRPF40B_ENST00000508736.1_3'UTR			Q8IYM0	F186B_HUMAN	family with sequence similarity 186, member B	398						protein complex				breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GACCCTCGAGCGCACAGTCAT	0.547													21	30					0	0	1	0	0	T	49994230	C	T	49994230	3	4	81	1	0	0	0	0	1	0	0	0	5543	768	27	1	1504	1	FAM186B	12	49994230	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1521	49994230	83857665	9520	13136											
PRPF40B	25766	broad.mit.edu	37	12	50027216	50027216	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:50027216C>A	ENST00000261897.1	+	7	933	c.382C>A	c.(382-384)Ctg>Atg	p.L128M	PRPF40B_ENST00000380281.1_Missense_Mutation_p.L134M|PRPF40B_ENST00000548825.2_Missense_Mutation_p.L156M			Q6NWY9	PR40B_HUMAN	PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae)	134					mRNA processing|RNA splicing	nuclear speck				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34						GCAGCTGCTCCTGTCCCAATG	0.542													25	266					9.39395e-14	1.1871e-13	1	1	0	A	50027216	C	A	50027216	3	1	81	1	0	0	0	0	1	0	0	0	12624	680	24	4	426	4	PRPF40B	12	50027216	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	32986	50027216	83824679	9521	13137											
PRPF40B	25766	broad.mit.edu	37	12	50027255	50027255	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:50027255G>T	ENST00000261897.1	+	7	972	c.421G>T	c.(421-423)Ggc>Tgc	p.G141C	PRPF40B_ENST00000380281.1_Missense_Mutation_p.G147C|PRPF40B_ENST00000548825.2_Missense_Mutation_p.G169C			Q6NWY9	PR40B_HUMAN	PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae)	147	WW 2.				mRNA processing|RNA splicing	nuclear speck				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34						GTCGGACACAGGCAAACCTTA	0.547													20	249					8.28177e-16	1.05926e-15	1	1	0	T	50027255	G	T	50027255	3	4	81	1	0	0	0	0	1	0	0	0	12624	1000	35	4	465	4	PRPF40B	12	50027255	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	39	50027255	83824640	9522	13138											
PRPF40B	25766	broad.mit.edu	37	12	50036069	50036069	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:50036069C>T	ENST00000261897.1	+	19	2382	c.1831C>T	c.(1831-1833)Cgc>Tgc	p.R611C	PRPF40B_ENST00000380281.1_Missense_Mutation_p.R624C|PRPF40B_ENST00000548825.2_Missense_Mutation_p.R646C|FMNL3_ENST00000335154.5_3'UTR			Q6NWY9	PR40B_HUMAN	PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae)	624					mRNA processing|RNA splicing	nuclear speck				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34						GGAGGAGGCACGCAGGATGCG	0.637													33	60					0	0	1	0	0	T	50036069	C	T	50036069	3	4	81	1	0	0	0	0	1	0	0	0	12624	536	19	1	1944	1	PRPF40B	12	50036069	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	8814	50036069	83815826	9523	13139											
FMNL3	91010	broad.mit.edu	37	12	50050932	50050932	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:50050932C>T	ENST00000335154.5	-	7	880	c.647G>A	c.(646-648)cGc>cAc	p.R216H	FMNL3_ENST00000352151.5_Missense_Mutation_p.R165H|FMNL3_ENST00000550488.1_Missense_Mutation_p.R216H|FMNL3_ENST00000293590.5_Missense_Mutation_p.R216H	NM_175736.4	NP_783863.4	Q8IVF7	FMNL3_HUMAN	formin-like 3	216	GBD/FH3.				actin cytoskeleton organization		actin binding|Rho GTPase binding	p.R216H(2)		breast(4)|endometrium(7)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|stomach(1)	39						GCTCACTAGGCGGGAGTTCTT	0.577													10	86					0	0	1	0	0	T	50050932	C	T	50050932	3	4	81	1	0	0	0	0	1	0	0	0	5986	768	27	1	2516	1	FMNL3	12	50050932	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	14863	50050932	83800963	9524	13140											
NCKAP5L	57701	broad.mit.edu	37	12	50189040	50189040	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:50189040G>A	ENST00000335999.6	-	8	2804	c.2603C>T	c.(2602-2604)aCt>aTt	p.T868I		NM_001037806.3	NP_001032895.2	Q9HCH0	NCK5L_HUMAN	NCK-associated protein 5-like	864	Pro-rich.									central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2)	18						ACTTGGGTCAGTGGGGCCAGG	0.642													20	112					0	0	1	0	0	A	50189040	G	A	50189040	3	1	81	1	0	0	0	0	1	0	0	0	10271	1029	36	2	1425	2	NCKAP5L	12	50189040	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	138108	50189040	83662855	9525	13141											
NCKAP5L	57701	broad.mit.edu	37	12	50190545	50190545	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:50190545C>T	ENST00000335999.6	-	8	1299	c.1098G>A	c.(1096-1098)gcG>gcA	p.A366A		NM_001037806.3	NP_001032895.2	Q9HCH0	NCK5L_HUMAN	NCK-associated protein 5-like	362	Pro-rich.									central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2)	18						GCTGTGGGGGCGCCTGGTCTG	0.657													14	24					0	0	1	0	0	T	50190545	C	T	50190545	2	4	81	1	0	0	0	0	0	0	0	1	10271	755	27	1		1	NCKAP5L	12	50190545	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1505	50190545	83661350	9526	13142											
NCKAP5L	57701	broad.mit.edu	37	12	50191178	50191178	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:50191178C>T	ENST00000335999.6	-	8	667		c.e8-1			NM_001037806.3	NP_001032895.2	Q9HCH0	NCK5L_HUMAN	NCK-associated protein 5-like											central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2)	18						CCCAACATACCTTAGGGGAGA	0.647													4	10					0	0	1	0	0	T	50191178	C	T	50191178	5	4	81	1	0	0	0	0	0	0	1	0	10271	695	24	2	3563	2	NCKAP5L	12	50191178	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	633	50191178	83660717	9527	13143											
BCDIN3D	144233	broad.mit.edu	37	12	50232614	50232614	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:50232614C>A	ENST00000333924.4	-	2	460	c.419G>T	c.(418-420)aGg>aTg	p.R140M	BCDIN3D-AS1_ENST00000548872.1_RNA|BCDIN3D-AS1_ENST00000549124.1_RNA	NM_181708.2	NP_859059.1	Q7Z5W3	BN3D2_HUMAN	BCDIN3 domain containing	140	Bin3-type SAM.						methyltransferase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1)|stomach(1)	9						CTTCCGGGTCCTTTGATTCAT	0.443											OREG0021805	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	57					4.68919e-08	5.54405e-08	1	1	0	A	50232614	C	A	50232614	3	1	81	1	0	0	0	0	1	0	0	0	1355	681	24	4	463	4	BCDIN3D	12	50232614	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	41436	50232614	83619281	9528	13144											
AQP5	362	broad.mit.edu	37	12	50355889	50355889	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:50355889G>A	ENST00000293599.6	+	1	237	c.89G>A	c.(88-90)gGc>gAc	p.G30D	RP11-469H8.6_ENST00000550214.1_RNA|RP11-469H8.6_ENST00000550530.1_RNA|RP11-469H8.6_ENST00000552379.1_RNA	NM_001651.2	NP_001642.1	P55064	AQP5_HUMAN	aquaporin 5	30					carbon dioxide transport|excretion|odontogenesis|pancreatic juice secretion	apical plasma membrane|integral to plasma membrane	protein binding|water channel activity			large_intestine(1)|lung(3)	4						TTTGGCCTGGGCTCGGCCCTC	0.662													10	15					0	0	1	0	0	A	50355889	G	A	50355889	3	1	81	1	0	0	0	0	1	0	0	0	826	1203	42	2	91	2	AQP5	12	50355889	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	123275	50355889	83496006	9529	13145											
RACGAP1	29127	broad.mit.edu	37	12	50400277	50400277	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:50400277A>G	ENST00000434422.1	-	4	529	c.228T>C	c.(226-228)cgT>cgC	p.R76R	RACGAP1_ENST00000551016.1_Silent_p.R76R|RACGAP1_ENST00000312377.5_Silent_p.R76R|RACGAP1_ENST00000547905.1_Silent_p.R76R|RACGAP1_ENST00000427314.2_Silent_p.R76R|RACGAP1_ENST00000454520.2_Silent_p.R76R			Q9H0H5	RGAP1_HUMAN	Rac GTPase activating protein 1	76					blood coagulation|cytokinesis, actomyosin contractile ring assembly|cytokinesis, initiation of separation|embryo development|microtubule-based movement|neuroblast proliferation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|spermatogenesis|sulfate transport	acrosomal vesicle|cytosol|microtubule|midbody|nucleus|spindle	alpha-tubulin binding|beta-tubulin binding|gamma-tubulin binding|GTPase activator activity|metal ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(6)	14						CCACCTGATTACGTGCATGCT	0.483													48	58					0	0	1	0	0	G	50400277	A	G	50400277	2	3	81	1	0	0	0	0	0	0	0	1	13029	378	14	3		3	RACGAP1	12	50400277	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	44388	50400277	83451618	9530	13146											
SMARCD1	6602	broad.mit.edu	37	12	50480112	50480112	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:50480112G>A	ENST00000394963.4	+	2	744	c.346G>A	c.(346-348)Gtc>Atc	p.V116I	SMARCD1_ENST00000381513.4_Missense_Mutation_p.V116I	NM_003076.4	NP_003067.3	Q96GM5	SMRD1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 1	116	Interaction with ESR1, NR1H4, NR3C1, PGR and SMARCA4.				chromatin-mediated maintenance of transcription|nervous system development|regulation of transcription from RNA polymerase II promoter	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	protein complex scaffold|transcription coactivator activity			NS(1)|breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	18						GCAGCAGGCGGTCCAAAATCG	0.612													12	19					0	0	1	0	0	A	50480112	G	A	50480112	3	1	81	1	0	0	0	0	1	0	0	0	14831	1261	44	2	352	2	SMARCD1	12	50480112	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	79835	50480112	83371783	9531	13147											
SMARCD1	6602	broad.mit.edu	37	12	50490635	50490635	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:50490635C>T	ENST00000394963.4	+	11	1670	c.1272C>T	c.(1270-1272)atC>atT	p.I424I	SMARCD1_ENST00000381513.4_Intron|SMARCD1_ENST00000548573.1_Silent_p.I222I	NM_003076.4	NP_003067.3	Q96GM5	SMRD1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 1	424	Interaction with SMARCC1 and SMARCC2.|Necessary for GR/NR3C1-mediated remodeling and transcription from chromatin; required for GR/NR3C1 interaction with the BRG1/SMARCA4 complex in vivo.				chromatin-mediated maintenance of transcription|nervous system development|regulation of transcription from RNA polymerase II promoter	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	protein complex scaffold|transcription coactivator activity			NS(1)|breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	18						CCTTTCAGATCCATGAGACAA	0.458													22	25					0	0	1	0	0	T	50490635	C	T	50490635	2	4	81	1	0	0	0	0	0	0	0	1	14831	845	30	2		2	SMARCD1	12	50490635	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	10523	50490635	83361260	9532	13148											
LIMA1	51474	broad.mit.edu	37	12	50571708	50571708	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:50571708C>A	ENST00000547825.1	-	5	1782	c.513G>T	c.(511-513)gaG>gaT	p.E171D	LIMA1_ENST00000552909.1_Missense_Mutation_p.E312D|LIMA1_ENST00000341247.4_Missense_Mutation_p.E473D|LIMA1_ENST00000552491.1_Missense_Mutation_p.E170D|LIMA1_ENST00000394943.3_Missense_Mutation_p.E474D|LIMA1_ENST00000552823.1_Missense_Mutation_p.E313D|LIMA1_ENST00000552783.1_Missense_Mutation_p.E314D	NM_001243775.1	NP_001230704.1	Q9UHB6	LIMA1_HUMAN	LIM domain and actin binding 1	473					actin filament bundle assembly|negative regulation of actin filament depolymerization|ruffle organization	cytoplasm|focal adhesion|stress fiber	actin filament binding|actin monomer binding|zinc ion binding			NS(1)|breast(4)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(2)	44						TCTCCAAAATCTCTTCGTTTT	0.488													6	135					1.12685e-05	1.27052e-05	1	1	0	A	50571708	C	A	50571708	3	1	81	1	0	0	0	0	1	0	0	0	8836	912	32	4	864	4	LIMA1	12	50571708	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	81073	50571708	83280187	9533	13149											
LIMA1	51474	broad.mit.edu	37	12	50589640	50589640	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:50589640G>A	ENST00000547825.1	-	2	1366	c.97C>T	c.(97-99)Cgt>Tgt	p.R33C	LIMA1_ENST00000552909.1_Missense_Mutation_p.R175C|LIMA1_ENST00000341247.4_Missense_Mutation_p.R335C|LIMA1_ENST00000552008.1_5'UTR|LIMA1_ENST00000552491.1_Missense_Mutation_p.R33C|LIMA1_ENST00000394943.3_Missense_Mutation_p.R335C|LIMA1_ENST00000552823.1_Missense_Mutation_p.R175C|LIMA1_ENST00000552783.1_Missense_Mutation_p.R175C	NM_001243775.1	NP_001230704.1	Q9UHB6	LIMA1_HUMAN	LIM domain and actin binding 1	335					actin filament bundle assembly|negative regulation of actin filament depolymerization|ruffle organization	cytoplasm|focal adhesion|stress fiber	actin filament binding|actin monomer binding|zinc ion binding			NS(1)|breast(4)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(2)	44						GGGGTGGAACGGACTGCCAGG	0.383													5	44					0	0	1	0	0	A	50589640	G	A	50589640	3	1	81	1	0	0	0	0	1	0	0	0	8836	1116	39	1	1295	1	LIMA1	12	50589640	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	17932	50589640	83262255	9534	13150											
LARP4	113251	broad.mit.edu	37	12	50829360	50829361	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:50829360_50829361insA	ENST00000398473.2	+	5	600_601	c.488_489insA	c.(487-492)ataaaafs	p.IK163fs	LARP4_ENST00000518444.1_Frame_Shift_Ins_p.IK162fs|LARP4_ENST00000518561.1_Frame_Shift_Ins_p.IK93fs|LARP4_ENST00000293618.8_Frame_Shift_Ins_p.IK163fs|LARP4_ENST00000429001.3_Frame_Shift_Ins_p.IK169fs|LARP4_ENST00000347328.5_Frame_Shift_Ins_p.IK163fs|LARP4_ENST00000522085.1_Frame_Shift_Ins_p.IK163fs	NM_052879.4|NM_199188.2	NP_443111.4|NP_954658.2	Q71RC2	LARP4_HUMAN	La ribonucleoprotein domain family, member 4	163	HTH La-type RNA-binding.						nucleotide binding|RNA binding			breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	23						ATGGAAGAAATAAAAAAGTTGA	0.287													23	56	---	---	---	---						A	50829361	-	A	50829360	7	5	81	1	0	1	1	0	0	0	0	0	8669	1406	49	0	506	0	LARP4	12	50829360	Frame_Shift_Ins	INS	-	TCGA-DU-6392-01A-11D-1705-08	239720	50829360	83022535	9535	13151											
LARP4	113251	broad.mit.edu	37	12	50829388	50829388	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:50829388A>G	ENST00000398473.2	+	5	628	c.516A>G	c.(514-516)ctA>ctG	p.L172L	LARP4_ENST00000518444.1_Silent_p.L171L|LARP4_ENST00000293618.8_Silent_p.L172L|LARP4_ENST00000522085.1_Silent_p.L172L|LARP4_ENST00000429001.3_Silent_p.L178L|LARP4_ENST00000518561.1_Silent_p.L102L|LARP4_ENST00000347328.5_Silent_p.L172L	NM_052879.4|NM_199188.2	NP_443111.4|NP_954658.2	Q71RC2	LARP4_HUMAN	La ribonucleoprotein domain family, member 4	172	HTH La-type RNA-binding.						nucleotide binding|RNA binding			breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	23						ACCCTGATCTAATTCTTGAAG	0.294													4	57					0	0	1	0	0	G	50829388	A	G	50829388	2	3	81	1	0	0	0	0	0	0	0	1	8669	349	13	3		3	LARP4	12	50829388	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	28	50829388	83022507	9536	13152											
LARP4	113251	broad.mit.edu	37	12	50867246	50867246	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:50867246A>G	ENST00000398473.2	+	14	1706	c.1594A>G	c.(1594-1596)Aca>Gca	p.T532A	LARP4_ENST00000518444.1_Missense_Mutation_p.T531A|LARP4_ENST00000293618.8_Missense_Mutation_p.T461A|LARP4_ENST00000429001.3_Missense_Mutation_p.T538A|LARP4_ENST00000347328.5_Missense_Mutation_p.T461A	NM_052879.4|NM_199188.2	NP_443111.4|NP_954658.2	Q71RC2	LARP4_HUMAN	La ribonucleoprotein domain family, member 4	532							nucleotide binding|RNA binding			breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	23						AGATGAGCAGACAGAATGCAC	0.383													5	49					0	0	1	0	0	G	50867246	A	G	50867246	3	3	81	1	0	0	0	0	1	0	0	0	8669	275	10	3	1652	3	LARP4	12	50867246	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	37858	50867246	82984649	9537	13153											
DIP2B	57609	broad.mit.edu	37	12	51089654	51089654	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:51089654C>T	ENST00000301180.5	+	16	1871	c.1837C>T	c.(1837-1839)Cgg>Tgg	p.R613W		NM_173602.2	NP_775873.2	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B (Drosophila)	613						nucleus	catalytic activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						AGTAAAATGTCGGGACTTGCA	0.398													41	79					0	0	1	0	0	T	51089654	C	T	51089654	3	4	81	1	0	0	0	0	1	0	0	0	4556	875	31	1	1899	1	DIP2B	12	51089654	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	222408	51089654	82762241	9538	13154											
DIP2B	57609	broad.mit.edu	37	12	51097980	51097980	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:51097980G>T	ENST00000301180.5	+	20	2417	c.2383G>T	c.(2383-2385)Gga>Tga	p.G795*		NM_173602.2	NP_775873.2	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B (Drosophila)	795						nucleus	catalytic activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						CATCCGATCAGGATTGCTGGG	0.383													13	87					1.5739e-10	1.93127e-10	1	1	0	T	51097980	G	T	51097980	4	4	81	1	0	0	0	0	0	1	0	0	4556	1001	35	4	2461	4	DIP2B	12	51097980	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	8326	51097980	82753915	9539	13155											
DIP2B	57609	broad.mit.edu	37	12	51126253	51126253	+	Silent	SNP	C	C	T	rs143164072		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:51126253C>T	ENST00000301180.5	+	32	3949	c.3915C>T	c.(3913-3915)atC>atT	p.I1305I		NM_173602.2	NP_775873.2	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B (Drosophila)	1305						nucleus	catalytic activity|transcription factor binding	p.I1305I(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						TCAAAGACATCGGGCTGTCCC	0.542													38	50					0	0	1	0	0	T	51126253	C	T	51126253	2	4	81	1	0	0	0	0	0	0	0	1	4556	874	31	1		1	DIP2B	12	51126253	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	28273	51126253	82725642	9540	13156											
SLC11A2	4891	broad.mit.edu	37	12	51390746	51390746	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:51390746C>T	ENST00000394904.3	-	9	821	c.772G>A	c.(772-774)Gtg>Atg	p.V258M	SLC11A2_ENST00000547198.1_Missense_Mutation_p.V229M|SLC11A2_ENST00000547688.1_Missense_Mutation_p.V258M|SLC11A2_ENST00000546743.1_Missense_Mutation_p.V150M|SLC11A2_ENST00000541174.2_Missense_Mutation_p.V229M|SLC11A2_ENST00000545993.2_Missense_Mutation_p.V225M|SLC11A2_ENST00000262052.5_Missense_Mutation_p.V229M|SLC11A2_ENST00000262051.7_Missense_Mutation_p.V229M	NM_001174125.1	NP_001167596.1	P49281	NRAM2_HUMAN	solute carrier family 11 (proton-coupled divalent metal ion transporter), member 2	229					activation of caspase activity|cellular iron ion homeostasis|cellular response to oxidative stress|detection of oxygen|ferrous iron import|multicellular organismal iron ion homeostasis|response to hypoxia|response to iron ion	apical plasma membrane|basal part of cell|cell surface|cytoplasmic vesicle|early endosome|late endosome|late endosome membrane|lysosomal membrane|lysosome|nucleus|paraferritin complex|perinuclear region of cytoplasm|plasma membrane|recycling endosome|trans-Golgi network	cadmium ion transmembrane transporter activity|cobalt ion transmembrane transporter activity|copper ion transmembrane transporter activity|ferrous iron transmembrane transporter activity|lead ion transmembrane transporter activity|manganese ion transmembrane transporter activity|nickel ion transmembrane transporter activity|protein binding|solute:hydrogen symporter activity|vanadium ion transmembrane transporter activity|zinc ion transmembrane transporter activity			breast(2)|cervix(1)|endometrium(3)|kidney(16)|large_intestine(4)|lung(9)|upper_aerodigestive_tract(1)	36						CTGGGTTTCACTGTAACATAC	0.483													4	38					0	0	1	0	0	T	51390746	C	T	51390746	3	4	81	1	0	0	0	0	1	0	0	0	14436	565	20	2	1114	2	SLC11A2	12	51390746	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	264493	51390746	82461149	9541	13157											
LETMD1	25875	broad.mit.edu	37	12	51447581	51447581	+	Silent	SNP	G	G	A	rs144819671		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:51447581G>A	ENST00000418425.2	+	4	469	c.450G>A	c.(448-450)aaG>aaA	p.K150K	LETMD1_ENST00000552739.1_Intron|LETMD1_ENST00000548516.1_Intron|LETMD1_ENST00000262055.4_Silent_p.K137K|LETMD1_ENST00000550929.1_Silent_p.K81K|LETMD1_ENST00000547008.1_Intron|LETMD1_ENST00000380123.2_Intron	NM_001243689.1	NP_001230618.1	Q6P1Q0	LTMD1_HUMAN	LETM1 domain containing 1	137	LETM1.					integral to membrane|mitochondrial outer membrane	protein binding			central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(3)	16						ACGTCACCAAGTGTCTTTTCC	0.408													18	226					0	0	1	0	0	A	51447581	G	A	51447581	2	1	81	1	0	0	0	0	0	0	0	1	8775	1020	36	2		2	LETMD1	12	51447581	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	56835	51447581	82404314	9542	13158											
CSRNP2	81566	broad.mit.edu	37	12	51467694	51467694	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:51467694C>T	ENST00000228515.1	-	3	620	c.323G>A	c.(322-324)tGt>tAt	p.C108Y		NM_030809.2	NP_110436.1	Q9H175	CSRN2_HUMAN	cysteine-serine-rich nuclear protein 2	108					apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	14						GGCAAACTCACAGAGTGTATA	0.537													35	48					0	0	1	0	0	T	51467694	C	T	51467694	3	4	81	1	0	0	0	0	1	0	0	0	3989	478	17	2	1320	2	CSRNP2	12	51467694	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	20113	51467694	82384201	9543	13159											
CELA1	1990	broad.mit.edu	37	12	51736376	51736376	+	Silent	SNP	G	G	A	rs141068541	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:51736376G>A	ENST00000293636.1	-	4	349	c.309C>T	c.(307-309)agC>agT	p.S103S		NM_001971.5	NP_001962.3	Q9UNI1	CELA1_HUMAN	chymotrypsin-like elastase family, member 1	103	Peptidase S1.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			NS(1)|breast(3)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)	15						CCACGTTATCGCTGTTCCAGT	0.577													41	52					0	0	1	0	0	A	51736376	G	A	51736376	2	1	81	1	0	0	0	0	0	0	0	1	3232	1078	38	1		1	CELA1	12	51736376	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	268682	51736376	82115519	9544	13160	63	3									
CELA1	1990	broad.mit.edu	37	12	51736377	51736377	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:51736377C>T	ENST00000293636.1	-	4	348	c.308G>A	c.(307-309)aGc>aAc	p.S103N		NM_001971.5	NP_001962.3	Q9UNI1	CELA1_HUMAN	chymotrypsin-like elastase family, member 1	103	Peptidase S1.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity	p.S103N(1)		NS(1)|breast(3)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)	15						CACGTTATCGCTGTTCCAGTA	0.572													36	57					0	0	1	0	0	T	51736377	C	T	51736377	3	4	81	1	0	0	0	0	1	0	0	0	3232	797	28	2	488	2	CELA1	12	51736377	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1	51736377	82115518	9545	13161	63	3									
CELA1	1990	broad.mit.edu	37	12	51736384	51736384	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:51736384A>G	ENST00000293636.1	-	4	341	c.301T>C	c.(301-303)Tgg>Cgg	p.W101R		NM_001971.5	NP_001962.3	Q9UNI1	CELA1_HUMAN	chymotrypsin-like elastase family, member 1	101	Peptidase S1.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			NS(1)|breast(3)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)	15						TCGCTGTTCCAGTATGGATGC	0.582													11	85					0	0	1	0	0	G	51736384	A	G	51736384	3	3	81	1	0	0	0	0	1	0	0	0	3232	188	7	3	495	3	CELA1	12	51736384	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	7	51736384	82115511	9546	13162	63	3									
GALNT6	11226	broad.mit.edu	37	12	51758007	51758007	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:51758007C>T	ENST00000543196.2	-	5	1152	c.947G>A	c.(946-948)aGa>aAa	p.R316K	GALNT6_ENST00000356317.3_Missense_Mutation_p.R316K			Q8NCL4	GALT6_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 6 (GalNAc-T6)	316					protein O-linked glycosylation	Golgi membrane|integral to membrane|perinuclear region of cytoplasm	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			endometrium(2)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						GCTATGGACTCTGCCCCTCTG	0.557													20	36					0	0	1	0	0	T	51758007	C	T	51758007	3	4	81	1	0	0	0	0	1	0	0	0	6257	913	32	2	949	2	GALNT6	12	51758007	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	21623	51758007	82093888	9547	13163											
GALNT6	11226	broad.mit.edu	37	12	51759335	51759335	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:51759335G>A	ENST00000543196.2	-	4	898	c.693C>T	c.(691-693)taC>taT	p.Y231Y	GALNT6_ENST00000356317.3_Silent_p.Y231Y			Q8NCL4	GALT6_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 6 (GalNAc-T6)	231	Catalytic subdomain A.				protein O-linked glycosylation	Golgi membrane|integral to membrane|perinuclear region of cytoplasm	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			endometrium(2)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						GCTGCTTCACGTACTGCTCCA	0.632													40	42					0	0	1	0	0	A	51759335	G	A	51759335	2	1	81	1	0	0	0	0	0	0	0	1	6257	1140	40	1		1	GALNT6	12	51759335	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1328	51759335	82092560	9548	13164											
GALNT6	11226	broad.mit.edu	37	12	51773181	51773181	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:51773181C>T	ENST00000543196.2	-	2	590	c.385G>A	c.(385-387)Gag>Aag	p.E129K	GALNT6_ENST00000356317.3_Missense_Mutation_p.E129K			Q8NCL4	GALT6_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 6 (GalNAc-T6)	129					protein O-linked glycosylation	Golgi membrane|integral to membrane|perinuclear region of cytoplasm	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			endometrium(2)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						TCCTGGGTCTCCAGGGGGGTC	0.587													37	46					0	0	1	0	0	T	51773181	C	T	51773181	3	4	81	1	0	0	0	0	1	0	0	0	6257	864	30	2	1523	2	GALNT6	12	51773181	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	13846	51773181	82078714	9549	13165											
SLC4A8	9498	broad.mit.edu	37	12	51853776	51853776	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:51853776G>T	ENST00000453097.2	+	8	1114	c.897G>T	c.(895-897)gaG>gaT	p.E299D	SLC4A8_ENST00000514353.3_Missense_Mutation_p.E246D|SLC4A8_ENST00000535225.2_Missense_Mutation_p.E246D|SLC4A8_ENST00000358657.3_Missense_Mutation_p.E326D|SLC4A8_ENST00000394856.1_Missense_Mutation_p.E246D	NM_001039960.2|NM_001258401.2	NP_001035049.1|NP_001245330.1	Q2Y0W8	S4A8_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 8	299					bicarbonate transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5)	55				BRCA - Breast invasive adenocarcinoma(357;0.15)		CTGGGGCCGAGGCCTCCAATG	0.458													20	169					2.39187e-15	3.05109e-15	1	1	0	T	51853776	G	T	51853776	3	4	81	1	0	0	0	0	1	0	0	0	14714	991	35	4	927	4	SLC4A8	12	51853776	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	80595	51853776	81998119	9550	13166											
SLC4A8	9498	broad.mit.edu	37	12	51863479	51863479	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:51863479G>T	ENST00000453097.2	+	12	1648	c.1431G>T	c.(1429-1431)caG>caT	p.Q477H	SLC4A8_ENST00000514353.3_Missense_Mutation_p.Q424H|SLC4A8_ENST00000535225.2_Missense_Mutation_p.Q424H|SLC4A8_ENST00000546663.1_3'UTR|SLC4A8_ENST00000358657.3_Missense_Mutation_p.Q504H|SLC4A8_ENST00000394856.1_Missense_Mutation_p.Q424H	NM_001039960.2|NM_001258401.2	NP_001035049.1|NP_001245330.1	Q2Y0W8	S4A8_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 8	477					bicarbonate transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5)	55				BRCA - Breast invasive adenocarcinoma(357;0.15)		TCAGCTTACAGTGTTTGGCTT	0.542													10	90					1.11149e-13	1.40369e-13	1	1	0	T	51863479	G	T	51863479	3	4	81	1	0	0	0	0	1	0	0	0	14714	1020	36	4	1477	4	SLC4A8	12	51863479	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	9703	51863479	81988416	9551	13167											
SCN8A	6334	broad.mit.edu	37	12	52100384	52100384	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:52100384A>G	ENST00000354534.6	+	11	1698	c.1520A>G	c.(1519-1521)gAg>gGg	p.E507G	SCN8A_ENST00000545061.1_Missense_Mutation_p.E507G|SCN8A_ENST00000550891.1_Missense_Mutation_p.E507G	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit						axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Lamotrigine(DB00555)	TCTGAAGGAGAGGAGAAAGGG	0.468													4	7					0	0	1	0	0	G	52100384	A	G	52100384	3	3	81	1	0	0	0	0	1	0	0	0	13978	304	11	3	1558	3	SCN8A	12	52100384	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	236905	52100384	81751511	9552	13168											
SCN8A	6334	broad.mit.edu	37	12	52159663	52159663	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:52159663A>T	ENST00000354534.6	+	16	2931	c.2753A>T	c.(2752-2754)cAt>cTt	p.H918L	SCN8A_ENST00000545061.1_Missense_Mutation_p.H918L|SCN8A_ENST00000550891.1_Missense_Mutation_p.H918L	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit						axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Lamotrigine(DB00555)	CCTCGCTGGCATATGCATGAC	0.502													23	159					0	0	1	0	0	T	52159663	A	T	52159663	3	4	81	1	0	0	0	0	1	0	0	0	13978	217	8	4	2811	4	SCN8A	12	52159663	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	59279	52159663	81692232	9553	13169											
SCN8A	6334	broad.mit.edu	37	12	52180523	52180523	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:52180523G>T	ENST00000354534.6	+	22	4318	c.4140G>T	c.(4138-4140)atG>atT	p.M1380I	SCN8A_ENST00000545061.1_Missense_Mutation_p.M1339I	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit						axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Lamotrigine(DB00555)	AAAAGCTTATGGAGGGGAACA	0.393													4	35					0.00909568	0.00944708	1	1	0	T	52180523	G	T	52180523	3	4	81	1	0	0	0	0	1	0	0	0	13978	1348	47	5	4222	5	SCN8A	12	52180523	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	20860	52180523	81671372	9554	13170											
SCN8A	6334	broad.mit.edu	37	12	52183122	52183122	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:52183122T>C	ENST00000354534.6	+	24	4517	c.4339T>C	c.(4339-4341)Ttc>Ctc	p.F1447L	SCN8A_ENST00000545061.1_Missense_Mutation_p.F1406L	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit						axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Lamotrigine(DB00555)	TTTTGTCATCTTCATCATCTT	0.403													24	28					0	0	1	0	0	C	52183122	T	C	52183122	3	2	81	1	0	0	0	0	1	0	0	0	13978	1609	56	3	4429	3	SCN8A	12	52183122	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	2599	52183122	81668773	9555	13171											
ANKRD33	341405	broad.mit.edu	37	12	52283195	52283195	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:52283195T>C	ENST00000301190.6	+	4	793	c.566T>C	c.(565-567)gTg>gCg	p.V189A	ANKRD33_ENST00000547119.1_3'UTR|ANKRD33_ENST00000340970.4_Missense_Mutation_p.V54A|ANKRD33_ENST00000538991.1_5'UTR	NM_001130015.1|NM_182608.3	NP_001123487.1|NP_872414.3	Q7Z3H0	ANR33_HUMAN	ankyrin repeat domain 33	54										endometrium(2)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.0969)		AACTACTATGTGGGCCTGGAC	0.627													9	60					0	0	1	0	0	C	52283195	T	C	52283195	3	2	81	1	0	0	0	0	1	0	0	0	656	1696	59	3	580	3	ANKRD33	12	52283195	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	100073	52283195	81568700	9556	13172											
ACVRL1	94	broad.mit.edu	37	12	52307480	52307480	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:52307480C>T	ENST00000550683.1	+	3	594	c.493C>T	c.(493-495)Cgt>Tgt	p.R165C	ACVRL1_ENST00000388922.4_Missense_Mutation_p.R151C|ACVRL1_ENST00000419526.2_Intron	NM_001077401.1	NP_001070869.1	P37023	ACVL1_HUMAN	activin A receptor type II-like 1	151					blood vessel endothelial cell proliferation involved in sprouting angiogenesis|blood vessel maturation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of endothelial cell migration|negative regulation of focal adhesion assembly|positive regulation of BMP signaling pathway|positive regulation of transcription, DNA-dependent|regulation of blood pressure|regulation of blood vessel endothelial cell migration|regulation of DNA replication|regulation of endothelial cell proliferation|transforming growth factor beta receptor signaling pathway|wound healing, spreading of epidermal cells	cell surface|integral to plasma membrane	activin binding|activin receptor activity, type I|ATP binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	20				BRCA - Breast invasive adenocarcinoma(357;0.0991)	Adenosine triphosphate(DB00171)	GGAGAAGCAGCGTGGCCTGCA	0.667													11	12					0	0	1	0	0	T	52307480	C	T	52307480	3	4	81	1	0	0	0	0	1	0	0	0	224	768	27	1	461	1	ACVRL1	12	52307480	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	24285	52307480	81544415	9557	13173											
ACVRL1	94	broad.mit.edu	37	12	52314611	52314611	+	Silent	SNP	G	G	A	rs142343727		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:52314611G>A	ENST00000550683.1	+	9	1589	c.1488G>A	c.(1486-1488)gcG>gcA	p.A496A	ACVRL1_ENST00000388922.4_Silent_p.A482A|ACVRL1_ENST00000419526.2_Silent_p.A308A	NM_001077401.1	NP_001070869.1	P37023	ACVL1_HUMAN	activin A receptor type II-like 1	482					blood vessel endothelial cell proliferation involved in sprouting angiogenesis|blood vessel maturation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of endothelial cell migration|negative regulation of focal adhesion assembly|positive regulation of BMP signaling pathway|positive regulation of transcription, DNA-dependent|regulation of blood pressure|regulation of blood vessel endothelial cell migration|regulation of DNA replication|regulation of endothelial cell proliferation|transforming growth factor beta receptor signaling pathway|wound healing, spreading of epidermal cells	cell surface|integral to plasma membrane	activin binding|activin receptor activity, type I|ATP binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	20				BRCA - Breast invasive adenocarcinoma(357;0.0991)	Adenosine triphosphate(DB00171)	GACTCACCGCGCTGCGGATCA	0.557													13	21					0	0	1	0	0	A	52314611	G	A	52314611	2	1	81	1	0	0	0	0	0	0	0	1	224	1074	38	1		1	ACVRL1	12	52314611	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	7131	52314611	81537284	9558	13174											
ACVR1B	91	broad.mit.edu	37	12	52369229	52369229	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:52369229G>A	ENST00000257963.4	+	2	349	c.272G>A	c.(271-273)cGc>cAc	p.R91H	ACVR1B_ENST00000542485.1_Missense_Mutation_p.R39H|ACVR1B_ENST00000415850.2_Missense_Mutation_p.R91H|ACVR1B_ENST00000541224.1_Missense_Mutation_p.R91H|ACVR1B_ENST00000426655.2_Missense_Mutation_p.R91H	NM_004302.4|NM_020328.3	NP_004293.1|NP_064733.3	P36896	ACV1B_HUMAN	activin A receptor, type IB	91					G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|peptidyl-threonine phosphorylation|positive regulation of activin receptor signaling pathway|positive regulation of erythrocyte differentiation|protein autophosphorylation|transmembrane receptor protein serine/threonine kinase signaling pathway	cell surface	activin receptor activity, type I|ATP binding|metal ion binding|SMAD binding|transforming growth factor beta receptor activity|ubiquitin protein ligase binding			breast(5)|endometrium(4)|kidney(5)|large_intestine(12)|lung(10)|ovary(1)|pancreas(6)|prostate(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.104)	Adenosine triphosphate(DB00171)	GAGGACCTGCGCAACACCCAC	0.597													12	25					0	0	1	0	0	A	52369229	G	A	52369229	3	1	81	1	0	0	0	0	1	0	0	0	220	1087	38	1	278	1	ACVR1B	12	52369229	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	54618	52369229	81482666	9559	13175											
GRASP	160622	broad.mit.edu	37	12	52404840	52404840	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:52404840C>T	ENST00000293662.4	+	4	449	c.369C>T	c.(367-369)caC>caT	p.H123H	GRASP_ENST00000552049.1_5'UTR|GRASP_ENST00000552963.1_3'UTR	NM_181711.2	NP_859062.1	Q7Z6J2	GRASP_HUMAN	GRP1 (general receptor for phosphoinositides 1)-associated scaffold protein	123	PDZ.					cell junction|perinuclear region of cytoplasm|postsynaptic membrane				central_nervous_system(1)|large_intestine(1)|lung(1)|skin(2)	5				BRCA - Breast invasive adenocarcinoma(357;0.0967)		GCCTTCACCACCGGGAGGAGC	0.617													6	142					0	0	1	0	0	T	52404840	C	T	52404840	2	4	81	1	0	0	0	0	0	0	0	1	6796	506	18	2		2	GRASP	12	52404840	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	35611	52404840	81447055	9560	13176											
GRASP	160622	broad.mit.edu	37	12	52407473	52407473	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:52407473G>A	ENST00000293662.4	+	5	537	c.457G>A	c.(457-459)Gac>Aac	p.D153N	GRASP_ENST00000380039.2_Missense_Mutation_p.D10N|GRASP_ENST00000552049.1_Missense_Mutation_p.D10N|GRASP_ENST00000552963.1_3'UTR	NM_181711.2	NP_859062.1	Q7Z6J2	GRASP_HUMAN	GRP1 (general receptor for phosphoinositides 1)-associated scaffold protein	153	PDZ.					cell junction|perinuclear region of cytoplasm|postsynaptic membrane				central_nervous_system(1)|large_intestine(1)|lung(1)|skin(2)	5				BRCA - Breast invasive adenocarcinoma(357;0.0967)		CCTGGCAGGGGACACCATCGC	0.537													18	18					0	0	1	0	0	A	52407473	G	A	52407473	3	1	81	1	0	0	0	0	1	0	0	0	6796	1174	41	2	475	2	GRASP	12	52407473	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2633	52407473	81444422	9561	13177											
C12orf44	60673	broad.mit.edu	37	12	52470759	52470759	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:52470759C>A	ENST00000336854.4	+	4	920	c.442C>A	c.(442-444)Ctc>Atc	p.L148I	RP11-1100L3.7_ENST00000550301.1_RNA	NM_001098673.1|NM_021934.4	NP_001092143.1|NP_068753.2	Q9BSB4	ATGA1_HUMAN	chromosome 12 open reading frame 44	148					autophagic vacuole assembly	pre-autophagosomal structure	identical protein binding|protein complex binding			endometrium(1)|lung(2)|ovary(1)	4				BRCA - Breast invasive adenocarcinoma(357;0.0978)		GGGTGAGAAACTCTGCGAGAA	0.567													4	42					0.150653	0.152522	1	1	0	A	52470759	C	A	52470759	3	1	81	1	0	0	0	0	1	0	0	0	1696	565	20	4	448	4	C12orf44	12	52470759	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	63286	52470759	81381136	9562	13178											
C12orf44	60673	broad.mit.edu	37	12	52470943	52470943	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:52470943G>A	ENST00000336854.4	+	4	1104	c.626G>A	c.(625-627)cGc>cAc	p.R209H	RP11-1100L3.7_ENST00000550301.1_RNA	NM_001098673.1|NM_021934.4	NP_001092143.1|NP_068753.2	Q9BSB4	ATGA1_HUMAN	chromosome 12 open reading frame 44	209					autophagic vacuole assembly	pre-autophagosomal structure	identical protein binding|protein complex binding			endometrium(1)|lung(2)|ovary(1)	4				BRCA - Breast invasive adenocarcinoma(357;0.0978)		ACCACCATGCGCAGGCTCATC	0.567													19	27					0	0	1	0	0	A	52470943	G	A	52470943	3	1	81	1	0	0	0	0	1	0	0	0	1696	1087	38	1	632	1	C12orf44	12	52470943	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	184	52470943	81380952	9563	13179											
KRT80	144501	broad.mit.edu	37	12	52566080	52566080	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:52566080C>T	ENST00000313234.5	-	7	1177	c.1080G>A	c.(1078-1080)gcG>gcA	p.A360A	KRT80_ENST00000394815.2_Silent_p.A360A	NM_001081492.1	NP_001074961.1	Q6KB66	K2C80_HUMAN	keratin 80	360	Coil 2.|Rod.					keratin filament	structural molecule activity			endometrium(2)|large_intestine(2)|lung(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.108)		GCAGCTGCCGCGCCATGTCCT	0.642													15	40					0	0	1	0	0	T	52566080	C	T	52566080	2	4	81	1	0	0	0	0	0	0	0	1	8537	755	27	1		1	KRT80	12	52566080	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	95137	52566080	81285815	9564	13180											
KRT7	3855	broad.mit.edu	37	12	52635320	52635320	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:52635320G>A	ENST00000331817.5	+	5	941	c.758G>A	c.(757-759)cGc>cAc	p.R253H		NM_005556.3	NP_005547.3	P08729	K2C7_HUMAN	keratin 7	253	Linker 12.|Rod.				cytoskeleton organization|DNA replication|interphase|interspecies interaction between organisms|regulation of translation	Golgi apparatus|keratin filament|nucleus	protein binding|structural molecule activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1)	14				BRCA - Breast invasive adenocarcinoma(357;0.105)		GACAACAGTCGCTCCCTGGAC	0.587													17	39					0	0	1	0	0	A	52635320	G	A	52635320	3	1	81	1	0	0	0	0	1	0	0	0	8526	1087	38	1	776	1	KRT7	12	52635320	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	69240	52635320	81216575	9565	13181											
KRT81	3887	broad.mit.edu	37	12	52681784	52681784	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:52681784G>T	ENST00000327741.5	-	5	952	c.884C>A	c.(883-885)tCc>tAc	p.S295Y	KRT86_ENST00000423955.2_Intron|KRT86_ENST00000544024.1_Intron	NM_002281.3	NP_002272.2	Q14533	KRT81_HUMAN	keratin 81	295	Coil 2.|Rod.					keratin filament	protein binding|structural molecule activity			breast(2)|endometrium(3)|large_intestine(3)|lung(6)|prostate(1)|stomach(1)	16				BRCA - Breast invasive adenocarcinoma(357;0.189)		GCGGTACCAGGACTCGGCCTC	0.557													14	37					1.99824e-07	2.33645e-07	1	1	0	T	52681784	G	T	52681784	3	4	81	1	0	0	0	0	1	0	0	0	8538	1174	41	5	653	5	KRT81	12	52681784	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	46464	52681784	81170111	9566	13182											
KRT81	3887	broad.mit.edu	37	12	52682229	52682229	+	Silent	SNP	G	G	A	rs140435760		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:52682229G>A	ENST00000327741.5	-	4	719	c.651C>T	c.(649-651)tgC>tgT	p.C217C	KRT86_ENST00000423955.2_Intron|KRT86_ENST00000544024.1_Intron	NM_002281.3	NP_002272.2	Q14533	KRT81_HUMAN	keratin 81	217	Coil 1B.|Rod.					keratin filament	protein binding|structural molecule activity			breast(2)|endometrium(3)|large_intestine(3)|lung(6)|prostate(1)|stomach(1)	16				BRCA - Breast invasive adenocarcinoma(357;0.189)		GGAGGTAGGCGCAGTCCACAT	0.622													39	69					0	0	1	0	0	A	52682229	G	A	52682229	2	1	81	1	0	0	0	0	0	0	0	1	8538	1079	38	1		1	KRT81	12	52682229	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	445	52682229	81169666	9567	13183											
KRT86	3892	broad.mit.edu	37	12	52699090	52699090	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:52699090G>A	ENST00000293525.5	+	5	854	c.802G>A	c.(802-804)Gac>Aac	p.D268N	KRT86_ENST00000423955.2_Missense_Mutation_p.D268N|KRT86_ENST00000544024.1_Missense_Mutation_p.D268N	NM_002284.3	NP_002275.1	O43790	KRT86_HUMAN	keratin 86	268	Linker 12.|Rod.				cytoskeleton organization	keratin filament	structural molecule activity			breast(1)|cervix(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(357;0.189)		CAACAGCCGGGACCTGAACAT	0.572													23	34					0	0	1	0	0	A	52699090	G	A	52699090	3	1	81	1	0	0	0	0	1	0	0	0	8543	1174	41	2	820	2	KRT86	12	52699090	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	16861	52699090	81152805	9568	13184											
KRT85	3891	broad.mit.edu	37	12	52758805	52758805	+	Silent	SNP	G	G	A	rs138930362		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:52758805G>A	ENST00000257901.3	-	2	645	c.570C>T	c.(568-570)agC>agT	p.S190S		NM_002283.3	NP_002274.1	P78386	KRT85_HUMAN	keratin 85	190	Coil 1B.|Rod.				epidermis development	keratin filament	protein binding|structural molecule activity			NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(7)|liver(1)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	36	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		CCAGCCTCCCGCTGTCGGCCT	0.622													42	58					0	0	1	0	0	A	52758805	G	A	52758805	2	1	81	1	0	0	0	0	0	0	0	1	8542	1078	38	1		1	KRT85	12	52758805	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	59715	52758805	81093090	9569	13185											
KRT84	3890	broad.mit.edu	37	12	52775247	52775247	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:52775247G>A	ENST00000257951.3	-	5	1041	c.975C>T	c.(973-975)agC>agT	p.S325S	RP3-416H24.4_ENST00000547174.1_RNA	NM_033045.3	NP_149034.2	Q9NSB2	KRT84_HUMAN	keratin 84	325	Linker 12.|Rod.					keratin filament	structural constituent of epidermis			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(10)|skin(3)	27	all_hematologic(5;0.12)			BRCA - Breast invasive adenocarcinoma(357;0.189)		TCAGGTCACGGCTGTTGTCCA	0.557													70	106					0	0	1	0	0	A	52775247	G	A	52775247	2	1	81	1	0	0	0	0	0	0	0	1	8541	1194	42	2		2	KRT84	12	52775247	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	16442	52775247	81076648	9570	13186											
KRT84	3890	broad.mit.edu	37	12	52779070	52779070	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:52779070G>A	ENST00000257951.3	-	1	366	c.300C>T	c.(298-300)gaC>gaT	p.D100D	RP3-416H24.4_ENST00000547174.1_RNA	NM_033045.3	NP_149034.2	Q9NSB2	KRT84_HUMAN	keratin 84	100	Head.					keratin filament	structural constituent of epidermis			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(10)|skin(3)	27	all_hematologic(5;0.12)			BRCA - Breast invasive adenocarcinoma(357;0.189)		CAACACAGCTGTCAGCCCTAG	0.597													10	93					0	0	1	0	0	A	52779070	G	A	52779070	2	1	81	1	0	0	0	0	0	0	0	1	8541	1368	48	2		2	KRT84	12	52779070	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	3823	52779070	81072825	9571	13187											
KRT84	3890	broad.mit.edu	37	12	52779359	52779359	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:52779359C>T	ENST00000257951.3	-	1	77	c.11G>A	c.(10-12)cGc>cAc	p.R4H	RP3-416H24.4_ENST00000547174.1_RNA	NM_033045.3	NP_149034.2	Q9NSB2	KRT84_HUMAN	keratin 84	4	Head.					keratin filament	structural constituent of epidermis			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(10)|skin(3)	27	all_hematologic(5;0.12)			BRCA - Breast invasive adenocarcinoma(357;0.189)		TCGGTAGGAGCGGCAAGACAT	0.572													26	56					0	0	1	0	0	T	52779359	C	T	52779359	3	4	81	1	0	0	0	0	1	0	0	0	8541	768	27	1	1827	1	KRT84	12	52779359	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	289	52779359	81072536	9572	13188											
KRT82	3888	broad.mit.edu	37	12	52789941	52789941	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:52789941G>A	ENST00000257974.2	-	7	1221	c.1144C>T	c.(1144-1146)Ctg>Ttg	p.L382L	RP3-416H24.4_ENST00000547174.1_RNA	NM_033033.3	NP_149022.3	Q9NSB4	KRT82_HUMAN	keratin 82	382	Coil 2.|Rod.					keratin filament	protein binding|structural constituent of epidermis			endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	29				BRCA - Breast invasive adenocarcinoma(357;0.193)		AGCCCTGCCAGCTTGCACTTG	0.597													12	17					0	0	1	0	0	A	52789941	G	A	52789941	2	1	81	1	0	0	0	0	0	0	0	1	8539	962	34	2		2	KRT82	12	52789941	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	10582	52789941	81061954	9573	13189											
KRT75	9119	broad.mit.edu	37	12	52818536	52818536	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:52818536A>G	ENST00000252245.5	-	9	1641	c.1421T>C	c.(1420-1422)gTg>gCg	p.V474A	RP11-1020M18.10_ENST00000548135.1_RNA	NM_004693.2	NP_004684.2	O95678	K2C75_HUMAN	keratin 75	474	Tail.					keratin filament	structural molecule activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(10)|prostate(1)|skin(1)	28				BRCA - Breast invasive adenocarcinoma(357;0.192)		AGAGGTGACCACAGCTGCCGG	0.617													20	30					0	0	1	0	0	G	52818536	A	G	52818536	3	3	81	1	0	0	0	0	1	0	0	0	8531	159	6	3	238	3	KRT75	12	52818536	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	28595	52818536	81033359	9574	13190											
KRT75	9119	broad.mit.edu	37	12	52824343	52824343	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:52824343C>T	ENST00000252245.5	-	5	1237	c.1017G>A	c.(1015-1017)gaG>gaA	p.E339E		NM_004693.2	NP_004684.2	O95678	K2C75_HUMAN	keratin 75	339	Coil 2.|Rod.					keratin filament	structural molecule activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(10)|prostate(1)|skin(1)	28				BRCA - Breast invasive adenocarcinoma(357;0.192)		GGTACCAGGACTCAGCCTCGG	0.542													30	67					0	0	1	0	0	T	52824343	C	T	52824343	2	4	81	1	0	0	0	0	0	0	0	1	8531	564	20	2		2	KRT75	12	52824343	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	5807	52824343	81027552	9575	13191											
KRT6B	3854	broad.mit.edu	37	12	52844333	52844333	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:52844333C>A	ENST00000252252.3	-	2	659	c.612G>T	c.(610-612)aaG>aaT	p.K204N		NM_005555.3	NP_005546.2	P04259	K2C6B_HUMAN	keratin 6B	204	Linker 1.|Rod.				ectoderm development	keratin filament	structural constituent of cytoskeleton			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(19)|ovary(4)|prostate(2)	40				BRCA - Breast invasive adenocarcinoma(357;0.083)		GCCTCACAGTCTTGGTGCCCT	0.577													8	70					0.0477658	0.0487066	1	1	0	A	52844333	C	A	52844333	3	1	81	1	0	0	0	0	1	0	0	0	8524	912	32	4	1114	4	KRT6B	12	52844333	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	19990	52844333	81007562	9576	13192											
KRT6C	286887	broad.mit.edu	37	12	52867487	52867487	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:52867487C>T	ENST00000252250.6	-	1	82	c.35G>A	c.(34-36)aGc>aAc	p.S12N		NM_173086.4	NP_775109.2	P48668	K2C6C_HUMAN	keratin 6C	12	Head.				cytoskeleton organization	keratin filament	structural molecule activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|prostate(2)|skin(2)	23				BRCA - Breast invasive adenocarcinoma(357;0.0828)		GCGGCTGCTGCTGTGGCTCCT	0.657													9	17					0	0	1	0	0	T	52867487	C	T	52867487	3	4	81	1	0	0	0	0	1	0	0	0	8525	797	28	2	1695	2	KRT6C	12	52867487	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	23154	52867487	80984408	9577	13193											
KRT6A	3853	broad.mit.edu	37	12	52884480	52884480	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:52884480G>T	ENST00000330722.6	-	5	1018	c.950C>A	c.(949-951)tCt>tAt	p.S317Y		NM_005554.3	NP_005545.1	P02538	K2C6A_HUMAN	keratin 6A	317	Linker 12.|Rod.				cell differentiation|ectoderm development|positive regulation of cell proliferation	keratin filament	protein binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	39				BRCA - Breast invasive adenocarcinoma(357;0.189)		CAGCACCACAGATGTGTCTGA	0.512													6	106					8.12818e-05	8.94031e-05	1	1	0	T	52884480	G	T	52884480	3	4	81	1	0	0	0	0	1	0	0	0	8523	942	33	4	764	4	KRT6A	12	52884480	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	16993	52884480	80967415	9578	13194											
KRT5	3852	broad.mit.edu	37	12	52912800	52912800	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:52912800C>T	ENST00000252242.4	-	2	1090	c.700G>A	c.(700-702)Gtg>Atg	p.V234M		NM_000424.3	NP_000415.2	P13647	K2C5_HUMAN	keratin 5	234	Coil 1B.|Rod.				epidermis development|hemidesmosome assembly	cytosol|keratin filament	protein binding|structural constituent of cytoskeleton			endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2)	35				BRCA - Breast invasive adenocarcinoma(357;0.189)		CGTTCCCCCACGATGCTGTCC	0.597													61	84					0	0	1	0	0	T	52912800	C	T	52912800	3	4	81	1	0	0	0	0	1	0	0	0	8522	536	19	1	1104	1	KRT5	12	52912800	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	28320	52912800	80939095	9579	13195											
KRT5	3852	broad.mit.edu	37	12	52913879	52913879	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:52913879G>T	ENST00000252242.4	-	1	592	c.202C>A	c.(202-204)Ctg>Atg	p.L68M		NM_000424.3	NP_000415.2	P13647	K2C5_HUMAN	keratin 5	68	Gly-rich.|Head.				epidermis development|hemidesmosome assembly	cytosol|keratin filament	protein binding|structural constituent of cytoskeleton			endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2)	35				BRCA - Breast invasive adenocarcinoma(357;0.189)		GAGCCCCCCAGGTTGTAGAGG	0.647													18	38					1.45105e-14	1.84293e-14	1	1	0	T	52913879	G	T	52913879	3	4	81	1	0	0	0	0	1	0	0	0	8522	991	35	4	1606	4	KRT5	12	52913879	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1079	52913879	80938016	9580	13196											
KRT5	3852	broad.mit.edu	37	12	52914038	52914038	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:52914038G>A	ENST00000252242.4	-	1	433	c.43C>T	c.(43-45)Cgt>Tgt	p.R15C		NM_000424.3	NP_000415.2	P13647	K2C5_HUMAN	keratin 5	15	Head.				epidermis development|hemidesmosome assembly	cytosol|keratin filament	protein binding|structural constituent of cytoskeleton			endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2)	35				BRCA - Breast invasive adenocarcinoma(357;0.189)		CTGAAGCTACGACTGCCCCCG	0.652													9	11					0	0	1	0	0	A	52914038	G	A	52914038	3	1	81	1	0	0	0	0	1	0	0	0	8522	1058	37	1	1765	1	KRT5	12	52914038	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	159	52914038	80937857	9581	13197											
KRT71	112802	broad.mit.edu	37	12	52943138	52943138	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:52943138C>A	ENST00000267119.5	-	3	726		c.e3-1			NM_033448.2	NP_258259.1	Q3SY84	K2C71_HUMAN	keratin 71								structural molecule activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.194)		CTCCTCATACCTGTGGGAATG	0.552													16	110					1.99824e-07	2.33645e-07	1	1	0	A	52943138	C	A	52943138	5	1	81	1	0	0	0	0	0	0	1	0	8527	695	24	4	943	4	KRT71	12	52943138	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	29100	52943138	80908757	9582	13198											
KRT73	319101	broad.mit.edu	37	12	53005048	53005048	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:53005048G>A	ENST00000305748.3	-	6	1084	c.1050C>T	c.(1048-1050)atC>atT	p.I350I	RP11-641A6.2_ENST00000551089.1_RNA|RP11-641A6.2_ENST00000552364.1_RNA	NM_175068.2	NP_778238.1	Q86Y46	K2C73_HUMAN	keratin 73	350	Coil 2.|Rod.					keratin filament	structural molecule activity	p.I350I(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.189)		TCAGCTCTGAGATCTCATTTT	0.527													25	49					0	0	1	0	0	A	53005048	G	A	53005048	2	1	81	1	0	0	0	0	0	0	0	1	8529	932	33	2		2	KRT73	12	53005048	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	61910	53005048	80846847	9583	13199											
KRT2	3849	broad.mit.edu	37	12	53040720	53040720	+	Missense_Mutation	SNP	C	C	T	rs148103071	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:53040720C>T	ENST00000309680.3	-	7	1294	c.1273G>A	c.(1273-1275)Gca>Aca	p.A425T		NM_000423.2	NP_000414.2	P35908	K22E_HUMAN	keratin 2	425	Coil 2.|Rod.				keratinization|keratinocyte activation|keratinocyte migration|keratinocyte proliferation	Golgi apparatus|keratin filament	protein binding|structural constituent of cytoskeleton			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32				BRCA - Breast invasive adenocarcinoma(357;0.19)		TCGGCATCTGCGATGGCATCT	0.572													32	44					0	0	1	0	0	T	53040720	C	T	53040720	3	4	81	1	0	0	0	0	1	0	0	0	8500	768	27	1	658	1	KRT2	12	53040720	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	35672	53040720	80811175	9584	13200											
KRT1	3848	broad.mit.edu	37	12	53074048	53074048	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:53074048G>A	ENST00000252244.3	-	1	143	c.85C>T	c.(85-87)Cgc>Tgc	p.R29C		NM_006121.3	NP_006112.3	P04264	K2C1_HUMAN	keratin 1	29	Gly/Phe/Ser-rich.|Head.				complement activation, lectin pathway|epidermis development|fibrinolysis|regulation of angiogenesis|response to oxidative stress	plasma membrane	protein binding|receptor activity|structural constituent of cytoskeleton|sugar binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3)	39						GTGGTCCTGCGCTGGTAGTTG	0.557													8	60					0	0	1	0	0	A	53074048	G	A	53074048	3	1	81	1	0	0	0	0	1	0	0	0	8490	1087	38	1	1885	1	KRT1	12	53074048	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	33328	53074048	80777847	9585	13201											
KRT77	374454	broad.mit.edu	37	12	53086375	53086375	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:53086375C>A	ENST00000341809.3	-	7	1285	c.1257G>T	c.(1255-1257)caG>caT	p.Q419H	KRT77_ENST00000537195.1_Missense_Mutation_p.Q186H	NM_175078.2	NP_778253.2	Q7Z794	K2C1B_HUMAN	keratin 77	419	Coil 2.|Rod.					keratin filament	structural molecule activity			NS(2)|endometrium(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						CCTGGAGGGCCTGCTCGCCTC	0.582													14	31					3.45872e-05	3.85959e-05	1	1	0	A	53086375	C	A	53086375	3	1	81	1	0	0	0	0	1	0	0	0	8533	680	24	4	491	4	KRT77	12	53086375	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	12327	53086375	80765520	9586	13202											
KRT79	338785	broad.mit.edu	37	12	53218122	53218122	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:53218122C>T	ENST00000330553.5	-	5	914	c.880G>A	c.(880-882)Gtg>Atg	p.V294M		NM_175834.2	NP_787028.1	Q5XKE5	K2C79_HUMAN	keratin 79	294	Linker 12.|Rod.					keratin filament	structural molecule activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GTGTTAGACACGTGGGTCTGC	0.582													4	34					0	0	1	0	0	T	53218122	C	T	53218122	3	4	81	1	0	0	0	0	1	0	0	0	8535	536	19	1	747	1	KRT79	12	53218122	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	131747	53218122	80633773	9587	13203											
KRT79	338785	broad.mit.edu	37	12	53224077	53224077	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:53224077C>A	ENST00000330553.5	-	3	733		c.e3-1			NM_175834.2	NP_787028.1	Q5XKE5	K2C79_HUMAN	keratin 79							keratin filament	structural molecule activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						ATCCTCGTACCTGTTACACAT	0.567													4	60					0.150653	0.152522	1	1	0	A	53224077	C	A	53224077	5	1	81	1	0	0	0	0	0	0	1	0	8535	695	24	4	937	4	KRT79	12	53224077	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	5955	53224077	80627818	9588	13204											
KRT78	196374	broad.mit.edu	37	12	53242353	53242353	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:53242353T>C	ENST00000304620.4	-	1	425	c.362A>G	c.(361-363)cAg>cGg	p.Q121R		NM_173352.2	NP_775487.2	Q8N1N4	K2C78_HUMAN	keratin 78	121	Coil 1A.|Rod.					keratin filament	protein binding|structural molecule activity			endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18						GGAAGCAAACTGGTTGTTGAG	0.537													3	42					0	0	1	0	0	C	53242353	T	C	53242353	3	2	81	1	0	0	0	0	1	0	0	0	8534	1580	55	3	1236	3	KRT78	12	53242353	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	18276	53242353	80609542	9589	13205											
KRT78	196374	broad.mit.edu	37	12	53242560	53242560	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:53242560C>T	ENST00000304620.4	-	1	218	c.155G>A	c.(154-156)cGt>cAt	p.R52H		NM_173352.2	NP_775487.2	Q8N1N4	K2C78_HUMAN	keratin 78	52	Gly-rich.|Head.					keratin filament	protein binding|structural molecule activity			endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18						GGTACTCCCACGAGAGCCTTC	0.672													6	10					0	0	1	0	0	T	53242560	C	T	53242560	3	4	81	1	0	0	0	0	1	0	0	0	8534	536	19	1	1443	1	KRT78	12	53242560	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	207	53242560	80609335	9590	13206											
KRT8	3856	broad.mit.edu	37	12	53292268	53292268	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:53292268G>A	ENST00000552551.1	-	8	1670	c.1238C>T	c.(1237-1239)aCg>aTg	p.T413M	KRT8_ENST00000546897.1_Missense_Mutation_p.T413M|KRT8_ENST00000552150.1_Missense_Mutation_p.T441M|KRT8_ENST00000293308.6_Missense_Mutation_p.T413M			P05787	K2C8_HUMAN	keratin 8	413	Tail.				cytoskeleton organization|interspecies interaction between organisms	cytoplasm|keratin filament|nuclear matrix|nucleoplasm	protein binding|structural molecule activity			endometrium(5)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	13				BRCA - Breast invasive adenocarcinoma(357;0.108)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GGTGGTCTTCGTATGAATACT	0.622													3	11					0	0	1	0	0	A	53292268	G	A	53292268	3	1	81	1	0	0	0	0	1	0	0	0	8536	1145	40	1	221	1	KRT8	12	53292268	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	49708	53292268	80559627	9591	13207											
KRT8	3856	broad.mit.edu	37	12	53293758	53293758	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:53293758G>T	ENST00000552551.1	-	6	1214	c.782C>A	c.(781-783)gCt>gAt	p.A261D	KRT8_ENST00000546897.1_Missense_Mutation_p.A261D|KRT8_ENST00000552150.1_Missense_Mutation_p.A289D|KRT8_ENST00000293308.6_Missense_Mutation_p.A261D			P05787	K2C8_HUMAN	keratin 8	261	Coil 2.|Necessary for interaction with PNN.|Rod.				cytoskeleton organization|interspecies interaction between organisms	cytoplasm|keratin filament|nuclear matrix|nucleoplasm	protein binding|structural molecule activity			endometrium(5)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	13				BRCA - Breast invasive adenocarcinoma(357;0.108)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CTTGACCTCAGCAATGATGCT	0.592													11	24					1.49906e-05	1.6816e-05	1	1	0	T	53293758	G	T	53293758	3	4	81	1	0	0	0	0	1	0	0	0	8536	971	34	4	685	4	KRT8	12	53293758	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1490	53293758	80558137	9592	13208											
KRT18	3875	broad.mit.edu	37	12	53344642	53344642	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:53344642C>T	ENST00000550600.1	+	4	663	c.609C>T	c.(607-609)atC>atT	p.I203I	KRT18_ENST00000388837.2_Silent_p.I203I|KRT18_ENST00000388835.3_Silent_p.I203I			P05783	K1C18_HUMAN	keratin 18	203	Coil 1B.|Necessary for interaction with PNN.|Rod.				anatomical structure morphogenesis|cell cycle|Golgi to plasma membrane CFTR protein transport|interspecies interaction between organisms|negative regulation of apoptosis	centriolar satellite|keratin filament|perinuclear region of cytoplasm	protein binding|structural molecule activity			central_nervous_system(1)|large_intestine(2)|lung(4)|prostate(3)|skin(1)	11						AGACAGAGATCGAGGCTCTCA	0.572													5	5					0	0	1	0	0	T	53344642	C	T	53344642	2	4	81	1	0	0	0	0	0	0	0	1	8498	874	31	1		1	KRT18	12	53344642	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	50884	53344642	80507253	9593	13209											
TENC1	23371	broad.mit.edu	37	12	53448969	53448969	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:53448969G>A	ENST00000314250.6	+	8	812		c.e8-1		TENC1_ENST00000549700.1_Splice_Site|TENC1_ENST00000379902.3_Splice_Site|TENC1_ENST00000546602.1_Splice_Site|TENC1_ENST00000314276.3_Splice_Site|TENC1_ENST00000451358.1_Splice_Site|TENC1_ENST00000552570.1_Splice_Site	NM_170754.2	NP_736610.2	Q63HR2	TENC1_HUMAN	tensin like C1 domain containing phosphatase (tensin 2)						intracellular signal transduction|negative regulation of cell proliferation	focal adhesion	metal ion binding|phosphoprotein phosphatase activity|protein binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(19)|ovary(1)|pancreas(1)|stomach(3)	34						CTTTATTTCAGCTCTTCAACC	0.488													22	42					0	0	1	0	0	A	53448969	G	A	53448969	5	1	81	1	0	0	0	0	0	0	1	0	15817	985	34	2	661	2	TENC1	12	53448969	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	104327	53448969	80402926	9594	13210											
TENC1	23371	broad.mit.edu	37	12	53457553	53457553	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:53457553C>T	ENST00000314250.6	+	29	4407	c.4117C>T	c.(4117-4119)Ccg>Tcg	p.P1373S	TENC1_ENST00000549700.1_Missense_Mutation_p.P1308S|TENC1_ENST00000379902.3_Missense_Mutation_p.P1249S|TENC1_ENST00000546602.1_Missense_Mutation_p.P1276S|TENC1_ENST00000314276.3_Missense_Mutation_p.P1383S|TENC1_ENST00000451358.1_Missense_Mutation_p.P1363S|TENC1_ENST00000552570.1_Missense_Mutation_p.P1371S	NM_170754.2	NP_736610.2	Q63HR2	TENC1_HUMAN	tensin like C1 domain containing phosphatase (tensin 2)	1373					intracellular signal transduction|negative regulation of cell proliferation	focal adhesion	metal ion binding|phosphoprotein phosphatase activity|protein binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(19)|ovary(1)|pancreas(1)|stomach(3)	34						GGCCAAGAAGCCGGGAAGCCC	0.537													76	102					0	0	1	0	0	T	53457553	C	T	53457553	3	4	81	1	0	0	0	0	1	0	0	0	15817	739	26	2	4340	2	TENC1	12	53457553	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	8584	53457553	80394342	9595	13211											
SPRYD3	84926	broad.mit.edu	37	12	53460161	53460161	+	Missense_Mutation	SNP	C	C	A	rs139156601		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:53460161C>A	ENST00000301463.4	-	10	1217	c.1131G>T	c.(1129-1131)gaG>gaT	p.E377D	SPRYD3_ENST00000547837.1_Missense_Mutation_p.E414D	NM_032840.2	NP_116229.1	Q8NCJ5	SPRY3_HUMAN	SPRY domain containing 3	377	Glu-rich.									central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	17						cttcctcttcctcctcttcct	0.567											OREG0021856	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	52					0.00307968	0.00324365	1	1	0	A	53460161	C	A	53460161	3	1	81	1	0	0	0	0	1	0	0	0	15165	680	24	4	205	4	SPRYD3	12	53460161	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2608	53460161	80391734	9596	13212											
CSAD	51380	broad.mit.edu	37	12	53567532	53567532	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:53567532G>A	ENST00000267085.4	-	3	288	c.55C>T	c.(55-57)Ccg>Tcg	p.P19S	CSAD_ENST00000453446.2_Intron|CSAD_ENST00000444623.1_5'UTR|CSAD_ENST00000542115.1_5'UTR|CSAD_ENST00000379843.3_5'UTR|CSAD_ENST00000379846.1_Intron	NM_001244706.1|NM_015989.4	NP_001231635.1|NP_057073.4	Q9Y600	CSAD_HUMAN	cysteine sulfinic acid decarboxylase	221					carboxylic acid metabolic process		pyridoxal phosphate binding|sulfinoalanine decarboxylase activity			kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(4)	14					L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114)	AGGAGAGCCGGAGGCAGGGTG	0.507													6	13					0	0	1	0	0	A	53567532	G	A	53567532	3	1	81	1	0	0	0	0	1	0	0	0	3948	1174	41	2	1567	2	CSAD	12	53567532	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	107371	53567532	80284363	9597	13213											
ITGB7	3695	broad.mit.edu	37	12	53585794	53585794	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:53585794T>G	ENST00000267082.5	-	15	2396	c.2165A>C	c.(2164-2166)gAc>gCc	p.D722A	ITGB7_ENST00000550743.2_Missense_Mutation_p.D574A|ITGB7_ENST00000338737.4_Missense_Mutation_p.D574A|ITGB7_ENST00000422257.3_Missense_Mutation_p.D722A	NM_000889.1	NP_000880.1	P26010	ITB7_HUMAN	integrin, beta 7	722					cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|regulation of immune response	integrin complex	identical protein binding|metal ion binding|receptor activity			NS(2)|breast(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CTGCGTGTGGTCTGCTCCCTC	0.597													9	13					0	0	1	0	0	G	53585794	T	G	53585794	3	3	81	1	0	0	0	0	1	0	0	0	7944	1667	58	5	239	5	ITGB7	12	53585794	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	18262	53585794	80266101	9598	13214											
ITGB7	3695	broad.mit.edu	37	12	53587619	53587619	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:53587619C>T	ENST00000267082.5	-	11	1606	c.1375G>A	c.(1375-1377)Gcc>Acc	p.A459T	ITGB7_ENST00000550743.2_Missense_Mutation_p.A459T|ITGB7_ENST00000338737.4_Missense_Mutation_p.A459T|ITGB7_ENST00000422257.3_Missense_Mutation_p.A459T	NM_000889.1	NP_000880.1	P26010	ITB7_HUMAN	integrin, beta 7	459					cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|regulation of immune response	integrin complex	identical protein binding|metal ion binding|receptor activity			NS(2)|breast(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						AAGCCAAGGGCCCGGAGCCTC	0.582													29	42					0	0	1	0	0	T	53587619	C	T	53587619	3	4	81	1	0	0	0	0	1	0	0	0	7944	739	26	2	1045	2	ITGB7	12	53587619	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1825	53587619	80264276	9599	13215											
ITGB7	3695	broad.mit.edu	37	12	53589427	53589427	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:53589427C>T	ENST00000267082.5	-	8	1285	c.1054G>A	c.(1054-1056)Gca>Aca	p.A352T	ITGB7_ENST00000550743.2_Missense_Mutation_p.A352T|ITGB7_ENST00000338737.4_Missense_Mutation_p.A352T|ITGB7_ENST00000422257.3_Missense_Mutation_p.A352T	NM_000889.1	NP_000880.1	P26010	ITB7_HUMAN	integrin, beta 7	352	VWFA.				cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|regulation of immune response	integrin complex	identical protein binding|metal ion binding|receptor activity			NS(2)|breast(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						ACAGGCAGTGCGGCACTGGTG	0.567													43	58					0	0	1	0	0	T	53589427	C	T	53589427	3	4	81	1	0	0	0	0	1	0	0	0	7944	768	27	1	1378	1	ITGB7	12	53589427	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1808	53589427	80262468	9600	13216											
ESPL1	9700	broad.mit.edu	37	12	53682456	53682456	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:53682456C>T	ENST00000257934.4	+	20	4772	c.4681C>T	c.(4681-4683)Cgg>Tgg	p.R1561W	ESPL1_ENST00000552462.1_Missense_Mutation_p.R1561W	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	1561				R -> Q (in Ref. 1; AAR18247 and 2; BAA11482).	apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						TCCTCGGCTCCGGCTCCCCTC	0.587													15	37					0	0	1	0	0	T	53682456	C	T	53682456	3	4	81	1	0	0	0	0	1	0	0	0	5281	643	23	1	4755	1	ESPL1	12	53682456	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	93029	53682456	80169439	9601	13217											
ESPL1	9700	broad.mit.edu	37	12	53684233	53684233	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:53684233G>A	ENST00000257934.4	+	24	5435	c.5344G>A	c.(5344-5346)Gca>Aca	p.A1782T	ESPL1_ENST00000552462.1_Missense_Mutation_p.A1782T	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	1782					apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						AGGGCGGCTGGCACTGGACCA	0.577													10	48					0	0	1	0	0	A	53684233	G	A	53684233	3	1	81	1	0	0	0	0	1	0	0	0	5281	1203	42	2	5434	2	ESPL1	12	53684233	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1777	53684233	80167662	9602	13218											
ESPL1	9700	broad.mit.edu	37	12	53685848	53685848	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:53685848A>G	ENST00000257934.4	+	27	5863	c.5772A>G	c.(5770-5772)ctA>ctG	p.L1924L	ESPL1_ENST00000552462.1_Silent_p.L1924L	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	1924					apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						TCCGCTTCCTACTCAGCTACT	0.572													11	59					0	0	1	0	0	G	53685848	A	G	53685848	2	3	81	1	0	0	0	0	0	0	0	1	5281	378	14	3		3	ESPL1	12	53685848	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	1615	53685848	80166047	9603	13219											
ESPL1	9700	broad.mit.edu	37	12	53686377	53686377	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:53686377G>T	ENST00000257934.4	+	29	6023	c.5932G>T	c.(5932-5934)Gtg>Ttg	p.V1978L	ESPL1_ENST00000552462.1_Missense_Mutation_p.V1978L	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	1978					apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						CTGGAGAGGAGTGGTTGGGGA	0.537													9	36					6.40141e-05	7.07494e-05	1	1	0	T	53686377	G	T	53686377	3	4	81	1	0	0	0	0	1	0	0	0	5281	1029	36	4	6042	4	ESPL1	12	53686377	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	529	53686377	80165518	9604	13220											
ESPL1	9700	broad.mit.edu	37	12	53687208	53687208	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:53687208C>A	ENST00000257934.4	+	31	6404	c.6313C>A	c.(6313-6315)Ctt>Att	p.L2105I	ESPL1_ENST00000552462.1_Missense_Mutation_p.L2105I	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	2105					apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						ACTCAAGTATCTTATTGGGGC	0.552													4	45					0.00909568	0.00944708	1	1	0	A	53687208	C	A	53687208	3	1	81	1	0	0	0	0	1	0	0	0	5281	913	32	4	6431	4	ESPL1	12	53687208	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	831	53687208	80164687	9605	13221											
ESPL1	9700	broad.mit.edu	37	12	53687221	53687221	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:53687221C>T	ENST00000257934.4	+	31	6417	c.6326C>T	c.(6325-6327)gCa>gTa	p.A2109V	ESPL1_ENST00000552462.1_Missense_Mutation_p.A2109V	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	2109					apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						ATTGGGGCTGCACCTATAGCC	0.542													4	42					0	0	1	0	0	T	53687221	C	T	53687221	3	4	81	1	0	0	0	0	1	0	0	0	5281	710	25	2	6444	2	ESPL1	12	53687221	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	13	53687221	80164674	9606	13222											
C12orf10	60314	broad.mit.edu	37	12	53700890	53700890	+	Missense_Mutation	SNP	G	G	A	rs138116397	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:53700890G>A	ENST00000267103.5	+	7	1140	c.1088G>A	c.(1087-1089)cGt>cAt	p.R363H	C12orf10_ENST00000548632.1_Missense_Mutation_p.R288H|C12orf10_ENST00000549488.1_Missense_Mutation_p.R200H	NM_021640.3	NP_067653	Q86UA3	Q86UA3_HUMAN	chromosome 12 open reading frame 10	363										cervix(1)|endometrium(3)|kidney(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	20						AGCATGGCCCGTGCCACCTTG	0.567													6	69					0	0	1	0	0	A	53700890	G	A	53700890	3	1	81	1	0	0	0	0	1	0	0	0	1680	1145	40	1	1114	1	C12orf10	12	53700890	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	13669	53700890	80151005	9607	13223											
AMHR2	269	broad.mit.edu	37	12	53819521	53819521	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:53819521G>T	ENST00000257863.4	+	6	750	c.670G>T	c.(670-672)Gga>Tga	p.G224*	AMHR2_ENST00000379791.3_Nonsense_Mutation_p.G224*|AMHR2_ENST00000550311.1_Nonsense_Mutation_p.G224*	NM_001164690.1|NM_020547.2	NP_001158162.1|NP_065434.1	Q16671	AMHR2_HUMAN	anti-Mullerian hormone receptor, type II	224	Protein kinase.				Mullerian duct regression		ATP binding|hormone binding|metal ion binding			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|skin(2)	34					Adenosine triphosphate(DB00171)	GCAGCTGCAAGGAAAACTGGT	0.577													11	15					0.000978159	0.00104673	1	1	0	T	53819521	G	T	53819521	4	4	81	1	0	0	0	0	0	1	0	0	569	1001	35	4	692	4	AMHR2	12	53819521	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	118631	53819521	80032374	9608	13224											
PCBP2	5094	broad.mit.edu	37	12	53861626	53861626	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:53861626G>A	ENST00000603815.1	+	12	1187	c.837G>A	c.(835-837)tgG>tgA	p.W279*	PCBP2_ENST00000549863.1_Splice_Site_p.W234*|PCBP2_ENST00000447282.1_Splice_Site_p.W248*|PCBP2_ENST00000359282.5_Splice_Site_p.W244*|PCBP2_ENST00000439930.3_Splice_Site_p.W279*|PCBP2_ENST00000437231.1_Intron|PCBP2_ENST00000359462.5_Splice_Site_p.W279*|PCBP2_ENST00000548933.1_Splice_Site_p.W248*|PCBP2_ENST00000546463.1_Splice_Site_p.W275*|PCBP2_ENST00000552819.1_Intron|PCBP2_ENST00000552296.2_Splice_Site_p.W275*|PCBP2_ENST00000455667.3_Intron	NM_001128911.1|NM_001128912.1|NM_005016.5|NM_031989.4	NP_001122383.1|NP_001122384.1|NP_005007.2|NP_114366.1	Q15366	PCBP2_HUMAN	poly(rC) binding protein 2	279					innate immune response|negative regulation of defense response to virus|negative regulation of type I interferon production|nuclear mRNA splicing, via spliceosome|proteasomal ubiquitin-dependent protein catabolic process|response to virus	cytosol|nucleoplasm|ribonucleoprotein complex	DNA binding|RNA binding|ubiquitin protein ligase binding			central_nervous_system(4)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	15						AAGGCTATTGGGGTAATGATT	0.378													6	101					0	0	1	0	0	A	53861626	G	A	53861626	5	1	81	1	0	0	0	0	0	0	1	0	11548	1246	43	2	879	2	PCBP2	12	53861626	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	42105	53861626	79990269	9609	13225											
PCBP2	5094	broad.mit.edu	37	12	53865452	53865452	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:53865452G>A	ENST00000603815.1	+	14	1272	c.922G>A	c.(922-924)Gcc>Acc	p.A308T	PCBP2_ENST00000549863.1_Missense_Mutation_p.A264T|PCBP2_ENST00000447282.1_Missense_Mutation_p.A278T|PCBP2_ENST00000359282.5_Missense_Mutation_p.A274T|PCBP2_ENST00000439930.3_Missense_Mutation_p.A308T|PCBP2_ENST00000437231.1_Missense_Mutation_p.A261T|PCBP2_ENST00000359462.5_Missense_Mutation_p.A309T|PCBP2_ENST00000548933.1_Missense_Mutation_p.A278T|PCBP2_ENST00000546463.1_Missense_Mutation_p.A305T|PCBP2_ENST00000552819.1_Missense_Mutation_p.A265T|PCBP2_ENST00000552296.2_Missense_Mutation_p.A304T|PCBP2_ENST00000455667.3_Missense_Mutation_p.A261T	NM_001128911.1|NM_001128912.1|NM_005016.5|NM_031989.4	NP_001122383.1|NP_001122384.1|NP_005007.2|NP_114366.1	Q15366	PCBP2_HUMAN	poly(rC) binding protein 2	308	KH 3.				innate immune response|negative regulation of defense response to virus|negative regulation of type I interferon production|nuclear mRNA splicing, via spliceosome|proteasomal ubiquitin-dependent protein catabolic process|response to virus	cytosol|nucleoplasm|ribonucleoprotein complex	DNA binding|RNA binding|ubiquitin protein ligase binding			central_nervous_system(4)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	15						GCGTCAAGGCGCCAAAATCAA	0.493													21	10					0	0	1	0	0	A	53865452	G	A	53865452	3	1	81	1	0	0	0	0	1	0	0	0	11548	1087	38	1	975	1	PCBP2	12	53865452	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	3826	53865452	79986443	9610	13226											
PCBP2	5094	broad.mit.edu	37	12	53865487	53865487	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:53865487G>A	ENST00000603815.1	+	14	1307	c.957G>A	c.(955-957)gcG>gcA	p.A319A	PCBP2_ENST00000549863.1_Silent_p.A275A|PCBP2_ENST00000447282.1_Silent_p.A289A|PCBP2_ENST00000359282.5_Silent_p.A285A|PCBP2_ENST00000439930.3_Silent_p.A319A|PCBP2_ENST00000437231.1_Silent_p.A272A|PCBP2_ENST00000359462.5_Silent_p.A320A|PCBP2_ENST00000548933.1_Silent_p.A289A|PCBP2_ENST00000546463.1_Silent_p.A316A|PCBP2_ENST00000552819.1_Silent_p.A276A|PCBP2_ENST00000552296.2_Silent_p.A315A|PCBP2_ENST00000455667.3_Silent_p.A272A	NM_001128911.1|NM_001128912.1|NM_005016.5|NM_031989.4	NP_001122383.1|NP_001122384.1|NP_005007.2|NP_114366.1	Q15366	PCBP2_HUMAN	poly(rC) binding protein 2	319	KH 3.				innate immune response|negative regulation of defense response to virus|negative regulation of type I interferon production|nuclear mRNA splicing, via spliceosome|proteasomal ubiquitin-dependent protein catabolic process|response to virus	cytosol|nucleoplasm|ribonucleoprotein complex	DNA binding|RNA binding|ubiquitin protein ligase binding			central_nervous_system(4)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	15						TGTCTGGGGCGCAGATCAAAA	0.473													19	18					0	0	1	0	0	A	53865487	G	A	53865487	2	1	81	1	0	0	0	0	0	0	0	1	11548	1074	38	1		1	PCBP2	12	53865487	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	35	53865487	79986408	9611	13227											
MAP3K12	7786	broad.mit.edu	37	12	53878923	53878923	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:53878923G>T	ENST00000267079.2	-	7	1182	c.957C>A	c.(955-957)atC>atA	p.I319I	MAP3K12_ENST00000547035.1_Silent_p.I352I|MAP3K12_ENST00000547488.1_Silent_p.I352I	NM_001193511.1|NM_006301.3	NP_001180440.1|NP_006292.3	Q12852	M3K12_HUMAN	mitogen-activated protein kinase kinase kinase 12	319	Protein kinase.				histone phosphorylation|JNK cascade|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation	cytosol|membrane fraction|plasma membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding			NS(2)|breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	37						CCACACCCCAGATAATGGCTG	0.552													9	44					0.00448238	0.00470627	1	1	0	T	53878923	G	T	53878923	2	4	81	1	0	0	0	0	0	0	0	1	9296	932	33	4		4	MAP3K12	12	53878923	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	13436	53878923	79972972	9612	13228											
MAP3K12	7786	broad.mit.edu	37	12	53879183	53879183	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:53879183T>C	ENST00000267079.2	-	6	1024	c.799A>G	c.(799-801)Aag>Gag	p.K267E	MAP3K12_ENST00000547035.1_Missense_Mutation_p.K300E|MAP3K12_ENST00000547488.1_Missense_Mutation_p.K300E	NM_001193511.1|NM_006301.3	NP_001180440.1|NP_006292.3	Q12852	M3K12_HUMAN	mitogen-activated protein kinase kinase kinase 12	267	Protein kinase.				histone phosphorylation|JNK cascade|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation	cytosol|membrane fraction|plasma membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding			NS(2)|breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	37						AAGGACATCTTGGTGCTCTTG	0.507													108	153					0	0	1	0	0	C	53879183	T	C	53879183	3	2	81	1	0	0	0	0	1	0	0	0	9296	1821	63	3	1820	3	MAP3K12	12	53879183	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	260	53879183	79972712	9613	13229											
TARBP2	6895	broad.mit.edu	37	12	53899497	53899497	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:53899497G>A	ENST00000266987.2	+	8	1289	c.806G>A	c.(805-807)cGa>cAa	p.R269Q	TARBP2_ENST00000552857.1_Silent_p.T135T|TARBP2_ENST00000394357.2_Missense_Mutation_p.R248Q|TARBP2_ENST00000456234.2_Missense_Mutation_p.R248Q	NM_134323.1	NP_599150.1	Q15633	TRBP2_HUMAN	TAR (HIV-1) RNA binding protein 2	269	Sufficient for interaction with DICER1.				miRNA loading onto RISC involved in gene silencing by miRNA|negative regulation of defense response to virus by host|negative regulation of protein kinase activity|positive regulation of viral genome replication|pre-miRNA processing|production of siRNA involved in RNA interference|regulation of transcription from RNA polymerase II promoter|regulation of translation|regulation of viral transcription|targeting of mRNA for destruction involved in RNA interference	cytosol|nucleus|perinuclear region of cytoplasm|RNA-induced silencing complex	double-stranded RNA binding|protein homodimerization activity|siRNA binding			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(3)	10						GATTCTCTACGAAATTCAGTA	0.602													58	120					0	0	1	0	0	A	53899497	G	A	53899497	3	1	81	1	0	0	0	0	1	0	0	0	15613	1058	37	1	836	1	TARBP2	12	53899497	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	20314	53899497	79952398	9614	13230											
ATP5G2	517	broad.mit.edu	37	12	54062936	54062936	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:54062936C>T	ENST00000338662.5	-	4	1560	c.355G>A	c.(355-357)Gcc>Acc	p.A119T	ATP5G2_ENST00000549164.1_Missense_Mutation_p.A103T|ATP5G2_ENST00000550241.1_5'UTR|ATP5G2_ENST00000394349.3_Missense_Mutation_p.A160T|ATP5G2_ENST00000602871.1_Missense_Mutation_p.A103T	NM_001002031.2	NP_001002031.1	Q06055	AT5G2_HUMAN	ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C2 (subunit 9)	103					ATP hydrolysis coupled proton transport|ATP synthesis coupled proton transport	integral to membrane|mitochondrial proton-transporting ATP synthase complex|proton-transporting ATP synthase complex, coupling factor F(o)	hydrogen ion transmembrane transporter activity|lipid binding			kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	6						TCTTACCTGGCATAACCAATG	0.498													12	45					0	0	1	0	0	T	54062936	C	T	54062936	3	4	81	1	0	0	0	0	1	0	0	0	1153	710	25	2	126	2	ATP5G2	12	54062936	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	163439	54062936	79788959	9615	13231											
CALCOCO1	57658	broad.mit.edu	37	12	54115881	54115881	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:54115881G>A	ENST00000548263.1	-	5	585	c.537C>T	c.(535-537)agC>agT	p.S179S	CALCOCO1_ENST00000430117.2_Silent_p.S146S|CALCOCO1_ENST00000262059.4_Silent_p.S179S|CALCOCO1_ENST00000550804.1_Silent_p.S179S			Q9P1Z2	CACO1_HUMAN	calcium binding and coiled-coil domain 1	179	N-terminal AD (CTNNB1 binding site) (By similarity).				steroid hormone receptor signaling pathway|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm	armadillo repeat domain binding|beta-catenin binding|ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|sequence-specific DNA binding|transcription regulatory region DNA binding			NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	28						CCTGCACTCGGCTCCTCAGCT	0.602													7	61					0	0	1	0	0	A	54115881	G	A	54115881	2	1	81	1	0	0	0	0	0	0	0	1	2595	1194	42	2		2	CALCOCO1	12	54115881	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	52945	54115881	79736014	9616	13232											
CALCOCO1	57658	broad.mit.edu	37	12	54118439	54118439	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:54118439G>A	ENST00000548263.1	-	3	297	c.249C>T	c.(247-249)gtC>gtT	p.V83V	CALCOCO1_ENST00000430117.2_Silent_p.V83V|CALCOCO1_ENST00000262059.4_Silent_p.V83V|CALCOCO1_ENST00000547885.1_5'UTR|CALCOCO1_ENST00000550804.1_Silent_p.V83V			Q9P1Z2	CACO1_HUMAN	calcium binding and coiled-coil domain 1	83	N-terminal AD (CTNNB1 binding site) (By similarity).				steroid hormone receptor signaling pathway|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm	armadillo repeat domain binding|beta-catenin binding|ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|sequence-specific DNA binding|transcription regulatory region DNA binding			NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	28						CTTGGAACTGGACACTGGTGT	0.488													4	15					0	0	1	0	0	A	54118439	G	A	54118439	2	1	81	1	0	0	0	0	0	0	0	1	2595	1161	41	2		2	CALCOCO1	12	54118439	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2558	54118439	79733456	9617	13233											
HOXC13	3229	broad.mit.edu	37	12	54338866	54338866	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:54338866G>T	ENST00000243056.3	+	2	975	c.819G>T	c.(817-819)aaG>aaT	p.K273N		NM_017410.2	NP_059106.2	P31276	HXC13_HUMAN	homeobox C13	273						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|large_intestine(1)|skin(1)	3						TGCAGCTGAAGGAGCTAGAGA	0.607			T	NUP98	AML								9	96					4.68919e-08	5.54405e-08	1	1	0	T	54338866	G	T	54338866	3	4	81	1	0	0	0	0	1	0	0	0	7353	991	35	4	825	4	HOXC13	12	54338866	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	220427	54338866	79513029	9618	13234											
HOXC9	3225	broad.mit.edu	37	12	54396215	54396215	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:54396215C>T	ENST00000303450.4	+	2	610	c.540C>T	c.(538-540)agC>agT	p.S180S	HOXC9_ENST00000504557.1_3'UTR|RP11-834C11.12_ENST00000513209.1_Intron|HOXC9_ENST00000508190.1_Splice_Site_p.S180S	NM_006897.1	NP_008828.1	P31274	HXC9_HUMAN	homeobox C9	180					multicellular organismal development	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(3)|liver(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	14						GCCCTCCAGGCAACCCCGTGG	0.582													27	58					0	0	1	0	0	T	54396215	C	T	54396215	5	4	81	1	0	0	0	0	0	0	1	0	7358	724	25	2	546	2	HOXC9	12	54396215	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	57349	54396215	79455680	9619	13235											
HOXC5	3222	broad.mit.edu	37	12	54427291	54427291	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:54427291G>A	ENST00000312492.2	+	1	655	c.385G>A	c.(385-387)Gcc>Acc	p.A129T	RP11-834C11.14_ENST00000512206.1_RNA|RP11-834C11.12_ENST00000513209.1_Intron|HOXC4_ENST00000303406.4_Intron	NM_018953.2	NP_061826.1	Q00444	HXC5_HUMAN	homeobox C5	129					regulation of transcription from RNA polymerase II promoter	cell junction|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(2)|urinary_tract(1)	12						AGGGCAGCCCGCCGGACTGAG	0.622													5	6					0	0	1	0	0	A	54427291	G	A	54427291	3	1	81	1	0	0	0	0	1	0	0	0	7355	1087	38	1	387	1	HOXC5	12	54427291	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	31076	54427291	79424604	9620	13236											
GPR84	53831	broad.mit.edu	37	12	54756608	54756608	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:54756608G>A	ENST00000551809.1	-	1	1663	c.1028C>T	c.(1027-1029)gCc>gTc	p.A343V	RP11-753H16.5_ENST00000552785.1_RNA|GPR84_ENST00000267015.3_Missense_Mutation_p.A343V|RP11-753H16.3_ENST00000550474.1_RNA			Q9NQS5	GPR84_HUMAN	G protein-coupled receptor 84	343						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(2)|kidney(2)|large_intestine(6)|lung(5)|skin(1)|urinary_tract(1)	18						CTGGACTCTGGCATCCAGAAT	0.537													9	104					0	0	1	0	0	A	54756608	G	A	54756608	3	1	81	1	0	0	0	0	1	0	0	0	6754	1203	42	2	166	2	GPR84	12	54756608	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	329317	54756608	79095287	9621	13237											
GPR84	53831	broad.mit.edu	37	12	54756722	54756722	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:54756722C>A	ENST00000551809.1	-	1	1549	c.914G>T	c.(913-915)aGa>aTa	p.R305I	RP11-753H16.5_ENST00000552785.1_RNA|GPR84_ENST00000267015.3_Missense_Mutation_p.R305I|RP11-753H16.3_ENST00000550474.1_RNA			Q9NQS5	GPR84_HUMAN	G protein-coupled receptor 84	305						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(2)|kidney(2)|large_intestine(6)|lung(5)|skin(1)|urinary_tract(1)	18						CGGAGCTCTTCTGGCTCCTTT	0.507													41	80					6.27289e-28	8.33992e-28	1	1	0	A	54756722	C	A	54756722	3	1	81	1	0	0	0	0	1	0	0	0	6754	913	32	4	280	4	GPR84	12	54756722	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	114	54756722	79095173	9622	13238											
ZNF385A	25946	broad.mit.edu	37	12	54765377	54765377	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:54765377C>T	ENST00000546970.1	-	6	773	c.484G>A	c.(484-486)Gcc>Acc	p.A162T	RP11-753H16.5_ENST00000552785.1_RNA|ZNF385A_ENST00000338010.5_Missense_Mutation_p.A182T|ZNF385A_ENST00000394313.2_Missense_Mutation_p.A162T|ZNF385A_ENST00000551109.1_Missense_Mutation_p.A162T|ZNF385A_ENST00000552382.1_5'UTR|ZNF385A_ENST00000551771.1_Intron|ZNF385A_ENST00000352268.6_Intron|RP11-753H16.3_ENST00000550474.1_RNA			Q96PM9	Z385A_HUMAN	zinc finger protein 385A	162					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|urinary_tract(1)	15						GAAGCCGGGGCTGGAGTCCCC	0.627													42	50					0	0	1	0	0	T	54765377	C	T	54765377	3	4	81	1	0	0	0	0	1	0	0	0	17933	797	28	2	632	2	ZNF385A	12	54765377	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	8655	54765377	79086518	9623	13239											
ITGA5	3678	broad.mit.edu	37	12	54795851	54795851	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:54795851G>T	ENST00000293379.4	-	21	2421	c.2160C>A	c.(2158-2160)taC>taA	p.Y720*	RP11-753H16.3_ENST00000550474.1_RNA|RP11-753H16.5_ENST00000552785.1_RNA	NM_002205.2	NP_002196.2	P08648	ITA5_HUMAN	integrin, alpha 5 (fibronectin receptor, alpha polypeptide)	720					angiogenesis|axon guidance|blood coagulation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|wound healing, spreading of epidermal cells	alphav-beta3 integrin-vitronectin complex|integrin complex|ruffle	platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	34						TCACGGCAAAGTAGTCACAGC	0.572													6	61					3.59834e-05	3.99423e-05	1	1	0	T	54795851	G	T	54795851	4	4	81	1	0	0	0	0	0	1	0	0	7923	1024	36	4	1029	4	ITGA5	12	54795851	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	30474	54795851	79056044	9624	13240											
GTSF1	121355	broad.mit.edu	37	12	54858868	54858868	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:54858868G>T	ENST00000552397.1	-	3	996	c.100C>A	c.(100-102)Ctt>Att	p.L34I	GTSF1_ENST00000305879.5_Missense_Mutation_p.L34I|RP11-753H16.3_ENST00000550474.1_RNA|GTSF1_ENST00000552395.1_Intron|RP11-753H16.5_ENST00000552785.1_RNA			Q8WW33	GTSF1_HUMAN	gametocyte specific factor 1	34							metal ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5		Myeloproliferative disorder(1001;0.00452)				CACTTGATAAGATGATAAGGA	0.398													63	87					1.59245e-42	2.13948e-42	1	1	0	T	54858868	G	T	54858868	3	4	81	1	0	0	0	0	1	0	0	0	6927	942	33	4	427	4	GTSF1	12	54858868	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	63017	54858868	78993027	9625	13241											
NCKAP1L	3071	broad.mit.edu	37	12	54917615	54917615	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:54917615C>T	ENST00000293373.6	+	20	2110	c.2031C>T	c.(2029-2031)gaC>gaT	p.D677D	NCKAP1L_ENST00000545638.2_Silent_p.D627D	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	677					actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						CTAGCATGGACAAGCTACACC	0.458													6	64					0	0	1	0	0	T	54917615	C	T	54917615	2	4	81	1	0	0	0	0	0	0	0	1	10269	477	17	2		2	NCKAP1L	12	54917615	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	58747	54917615	78934280	9626	13242											
PDE1B	5153	broad.mit.edu	37	12	54966424	54966424	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:54966424G>A	ENST00000243052.3	+	7	1070	c.634G>A	c.(634-636)Gag>Aag	p.E212K	PDE1B_ENST00000394277.3_3'UTR|PDE1B_ENST00000538346.1_Missense_Mutation_p.E171K|PDE1B_ENST00000550620.1_Missense_Mutation_p.E192K	NM_000924.3	NP_000915.1	Q01064	PDE1B_HUMAN	phosphodiesterase 1B, calmodulin-dependent	212	Catalytic (By similarity).				activation of phospholipase C activity|apoptosis|nerve growth factor receptor signaling pathway|platelet activation	cytosol|nucleus	3',5'-cyclic-AMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			endometrium(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(4)	31						GGATGCCTTGGAGACAGGCTA	0.498													257	394					0	0	1	0	0	A	54966424	G	A	54966424	3	1	81	1	0	0	0	0	1	0	0	0	11681	1175	41	2	713	2	PDE1B	12	54966424	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	48809	54966424	78885471	9627	13243											
NEUROD4	58158	broad.mit.edu	37	12	55420664	55420664	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:55420664G>T	ENST00000242994.3	+	2	819	c.441G>T	c.(439-441)caG>caT	p.Q147H		NM_021191.2	NP_067014.2	Q9HD90	NDF4_HUMAN	neuronal differentiation 4	147					amacrine cell differentiation|positive regulation of cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	41						AGACTGGCCAGACACCTGAAG	0.502													23	43					5.35356e-11	6.60132e-11	1	1	0	T	55420664	G	T	55420664	3	4	81	1	0	0	0	0	1	0	0	0	10397	933	33	4	443	4	NEUROD4	12	55420664	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	454240	55420664	78431231	9628	13244											
OR6C74	254783	broad.mit.edu	37	12	55641583	55641583	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:55641583C>T	ENST00000343870.4	+	1	602	c.512C>T	c.(511-513)aCt>aTt	p.T171I		NM_001005490.1	NP_001005490.1	A6NCV1	O6C74_HUMAN	olfactory receptor, family 6, subfamily C, member 74	171					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|large_intestine(3)|lung(7)|prostate(1)	12						GCAGCCAACACTGTAGATCAT	0.443													22	54					0	0	1	0	0	T	55641583	C	T	55641583	3	4	81	1	0	0	0	0	1	0	0	0	11245	565	20	2	514	2	OR6C74	12	55641583	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	220919	55641583	78210312	9629	13245											
OR6C74	254783	broad.mit.edu	37	12	55641851	55641851	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:55641851C>A	ENST00000343870.4	+	1	870	c.780C>A	c.(778-780)ccC>ccA	p.P260P		NM_001005490.1	NP_001005490.1	A6NCV1	O6C74_HUMAN	olfactory receptor, family 6, subfamily C, member 74	260					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|large_intestine(3)|lung(7)|prostate(1)	12						ATGTGAAACCCTCAGCAAAAG	0.403													6	81					0.0215528	0.0221217	1	1	0	A	55641851	C	A	55641851	2	1	81	1	0	0	0	0	0	0	0	1	11245	668	24	4		4	OR6C74	12	55641851	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	268	55641851	78210044	9630	13246											
OR6C1	390321	broad.mit.edu	37	12	55715121	55715121	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:55715121C>A	ENST00000379668.2	+	1	776	c.738C>A	c.(736-738)gtC>gtA	p.V246V		NM_001005182.1	NP_001005182.1	Q96RD1	OR6C1_HUMAN	olfactory receptor, family 6, subfamily C, member 1	246			V -> I (in dbSNP:rs7132916).		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(5)|liver(2)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	25						TGGTTGTTGTCTCCATCTCTT	0.403													33	50					2.54651e-27	3.38116e-27	1	1	0	A	55715121	C	A	55715121	2	1	81	1	0	0	0	0	0	0	0	1	11237	900	32	4		4	OR6C1	12	55715121	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	73270	55715121	78136774	9631	13247											
OR6C3	254786	broad.mit.edu	37	12	55725688	55725688	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:55725688C>A	ENST00000379667.1	+	1	204	c.204C>A	c.(202-204)atC>atA	p.I68I		NM_054104.1	NP_473445.1	Q9NZP0	OR6C3_HUMAN	olfactory receptor, family 6, subfamily C, member 3	68					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)|skin(2)	11						TCTTAGAAATCTCATTTACAA	0.418													38	81					1.90571e-15	2.43162e-15	1	1	0	A	55725688	C	A	55725688	2	1	81	1	0	0	0	0	0	0	0	1	11239	903	32	4		4	OR6C3	12	55725688	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	10567	55725688	78126207	9632	13248											
OR6C65	403282	broad.mit.edu	37	12	55795115	55795115	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:55795115T>C	ENST00000379665.2	+	1	902	c.803T>C	c.(802-804)tTg>tCg	p.L268S		NM_001005518.1	NP_001005518.1	A6NJZ3	O6C65_HUMAN	olfactory receptor, family 6, subfamily C, member 65	268					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(3)|lung(9)	15						GGTATGGCTTTGAGCAAAGGT	0.393													31	45					0	0	1	0	0	C	55795115	T	C	55795115	3	2	81	1	0	0	0	0	1	0	0	0	11242	1821	63	3	805	3	OR6C65	12	55795115	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	69427	55795115	78056780	9633	13249											
ITGA7	3679	broad.mit.edu	37	12	56091753	56091753	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:56091753C>A	ENST00000257880.7	-	9	1601	c.1382G>T	c.(1381-1383)aGc>aTc	p.S461I	ITGA7_ENST00000347027.6_Missense_Mutation_p.S417I|ITGA7_ENST00000394229.2_Missense_Mutation_p.S417I|ITGA7_ENST00000555728.1_Missense_Mutation_p.S461I|ITGA7_ENST00000452168.2_Missense_Mutation_p.S324I|ITGA7_ENST00000257879.6_Missense_Mutation_p.S417I|ITGA7_ENST00000553804.1_Missense_Mutation_p.S421I|ITGA7_ENST00000394230.2_Missense_Mutation_p.S421I			Q13683	ITA7_HUMAN	integrin, alpha 7	461					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						CCCCAGGCTGCTCCCATGGTA	0.597													68	113					7.59065e-32	1.01335e-31	1	1	0	A	56091753	C	A	56091753	3	1	81	1	0	0	0	0	1	0	0	0	7925	797	28	4	2235	4	ITGA7	12	56091753	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	296638	56091753	77760142	9634	13250											
ITGA7	3679	broad.mit.edu	37	12	56092276	56092276	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:56092276C>A	ENST00000257880.7	-	8	1434	c.1215G>T	c.(1213-1215)caG>caT	p.Q405H	ITGA7_ENST00000347027.6_Missense_Mutation_p.Q361H|ITGA7_ENST00000394229.2_Missense_Mutation_p.Q361H|ITGA7_ENST00000555728.1_Missense_Mutation_p.Q405H|ITGA7_ENST00000452168.2_Missense_Mutation_p.Q268H|ITGA7_ENST00000257879.6_Missense_Mutation_p.Q361H|ITGA7_ENST00000553804.1_Missense_Mutation_p.Q365H|ITGA7_ENST00000394230.2_Missense_Mutation_p.Q365H			Q13683	ITA7_HUMAN	integrin, alpha 7	405					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						AGTGACCCCCCTGGTTCAAGT	0.607													22	31					0.00229938	0.0024307	1	1	0	A	56092276	C	A	56092276	3	1	81	1	0	0	0	0	1	0	0	0	7925	680	24	4	2406	4	ITGA7	12	56092276	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	523	56092276	77759619	9635	13251											
BLOC1S1	2647	broad.mit.edu	37	12	56113373	56113373	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:56113373C>T	ENST00000547076.1	+	4	723	c.208C>T	c.(208-210)Ctg>Ttg	p.L70L	BLOC1S1_ENST00000548925.1_Silent_p.L148L|RP11-644F5.10_ENST00000550412.1_Intron|BLOC1S1_ENST00000548556.1_Silent_p.L70L|RP11-644F5.10_ENST00000549424.1_Intron|BLOC1S1_ENST00000549147.1_3'UTR|BLOC1S1_ENST00000257899.2_Silent_p.L120L			P78537	BL1S1_HUMAN	biogenesis of lysosomal organelles complex-1, subunit 1	148					cellular membrane organization|melanosome organization|platelet dense granule organization|post-Golgi vesicle-mediated transport	BLOC-1 complex|lysosomal membrane	protein binding			breast(1)|endometrium(1)|large_intestine(1)|prostate(1)	4						CAAAGGGCAGCTGCAGTCTGC	0.582													4	39					0	0	1	0	0	T	56113373	C	T	56113373	2	4	81	1	0	0	0	0	0	0	0	1	1447	796	28	2		2	BLOC1S1	12	56113373	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	21097	56113373	77738522	9636	13252											
CD63	967	broad.mit.edu	37	12	56121015	56121015	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:56121015C>T	ENST00000549117.1	-	3	611	c.175G>A	c.(175-177)Gca>Aca	p.A59T	CD63_ENST00000546939.1_5'UTR|CD63_ENST00000420846.3_Missense_Mutation_p.A59T|CD63_ENST00000552754.1_Missense_Mutation_p.A36T|CD63_ENST00000552692.1_Missense_Mutation_p.A59T|CD63_ENST00000257857.4_Missense_Mutation_p.A59T|CD63_ENST00000550776.1_5'UTR	NM_001257389.1	NP_001244318.1	P08962	CD63_HUMAN	CD63 molecule	59					platelet activation|platelet degranulation	integral to plasma membrane|late endosome membrane|lysosomal membrane|platelet dense granule membrane				kidney(1)|large_intestine(3)|lung(2)|ovary(1)	7						ACACCCACTGCGATGATGACC	0.587													34	82					0	0	1	0	0	T	56121015	C	T	56121015	3	4	81	1	0	0	0	0	1	0	0	0	3051	768	27	1	565	1	CD63	12	56121015	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	7642	56121015	77730880	9637	13253											
GDF11	10220	broad.mit.edu	37	12	56142563	56142563	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:56142563C>T	ENST00000257868.5	+	2	676	c.639C>T	c.(637-639)ggC>ggT	p.G213G		NM_005811.3	NP_005802.1	O95390	GDF11_HUMAN	growth differentiation factor 11	213	Poly-Gly.				growth|mesoderm development|skeletal system development	extracellular space	cytokine activity|growth factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|urinary_tract(1)	12						GGGGAGGGGGCGGAGGCCGGC	0.602													14	10					0	0	1	0	0	T	56142563	C	T	56142563	2	4	81	1	0	0	0	0	0	0	0	1	6354	755	27	1		1	GDF11	12	56142563	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	21548	56142563	77709332	9638	13254											
DNAJC14	85406	broad.mit.edu	37	12	56222254	56222254	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:56222254C>A	ENST00000357606.3	-	3	478	c.189G>T	c.(187-189)caG>caT	p.Q63H	DNAJC14_ENST00000317269.3_Missense_Mutation_p.Q63H|DNAJC14_ENST00000317287.5_Missense_Mutation_p.Q63H			Q6Y2X3	DJC14_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 14	63					protein folding|protein transport	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|unfolded protein binding			breast(2)|kidney(1)|large_intestine(8)|lung(7)|ovary(3)|prostate(1)|skin(1)	23						GGTTTGGGTGCTGTGTGTGCT	0.577													13	122					0.411799	0.413167	1	1	0	A	56222254	C	A	56222254	3	1	81	1	0	0	0	0	1	0	0	0	4660	796	28	4	1943	4	DNAJC14	12	56222254	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	79691	56222254	77629641	9639	13255											
MMP19	4327	broad.mit.edu	37	12	56231369	56231369	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:56231369C>T	ENST00000394182.1	-	3	299	c.300G>A	c.(298-300)tgG>tgA	p.W100*	MMP19_ENST00000322569.4_Nonsense_Mutation_p.W386*|MMP19_ENST00000409200.3_Intron|MMP19_ENST00000548629.1_Nonsense_Mutation_p.W363*			Q99542	MMP19_HUMAN	matrix metallopeptidase 19	386					angiogenesis|cell differentiation|collagen catabolic process|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	26						GGTTGAGAGGCCAATAGAGAG	0.463													17	44					0	0	1	0	0	T	56231369	C	T	56231369	4	4	81	1	0	0	0	0	0	1	0	0	9705	740	26	2	376	2	MMP19	12	56231369	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	9115	56231369	77620526	9640	13256											
MMP19	4327	broad.mit.edu	37	12	56236156	56236156	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:56236156C>T	ENST00000322569.4	-	2	245	c.154G>A	c.(154-156)Gat>Aat	p.D52N	MMP19_ENST00000409200.3_Missense_Mutation_p.D52N|MMP19_ENST00000547487.1_5'UTR|MMP19_ENST00000548629.1_Missense_Mutation_p.D52N	NM_002429.4	NP_002420.1	Q99542	MMP19_HUMAN	matrix metallopeptidase 19	52					angiogenesis|cell differentiation|collagen catabolic process|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	p.D52Y(1)		endometrium(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	26						TCGGTGATATCTTCTGGCTTG	0.488													36	53					0	0	1	0	0	T	56236156	C	T	56236156	3	4	81	1	0	0	0	0	1	0	0	0	9705	913	32	2	1404	2	MMP19	12	56236156	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	4787	56236156	77615739	9641	13257											
DGKA	1606	broad.mit.edu	37	12	56335065	56335065	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:56335065T>C	ENST00000331886.5	+	14	1585	c.1131T>C	c.(1129-1131)ctT>ctC	p.L377L	DGKA_ENST00000549079.2_3'UTR|DGKA_ENST00000551156.1_Silent_p.L377L|DGKA_ENST00000394147.1_Silent_p.L377L	NM_001345.4	NP_001336.2	P23743	DGKA_HUMAN	diacylglycerol kinase, alpha 80kDa	377	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity			breast(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(4)|pancreas(1)|skin(3)|urinary_tract(1)	25					Vitamin E(DB00163)	CCCACCCACTTCTCGTCTTTG	0.498													46	80					0	0	1	0	0	C	56335065	T	C	56335065	2	2	81	1	0	0	0	0	0	0	0	1	4493	1770	62	3		3	DGKA	12	56335065	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	98909	56335065	77516830	9642	13258											
CDK2	1017	broad.mit.edu	37	12	56361852	56361852	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:56361852A>G	ENST00000266970.4	+	3	454	c.214A>G	c.(214-216)Aca>Gca	p.T72A	CDK2_ENST00000354056.4_Missense_Mutation_p.T72A|CDK2_ENST00000556656.1_3'UTR|CDK2_ENST00000440311.2_Missense_Mutation_p.T46A|CDK2_ENST00000553376.1_Missense_Mutation_p.T72A	NM_001798.3	NP_001789.2	P24941	CDK2_HUMAN	cyclin-dependent kinase 2	72	Protein kinase.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|blood coagulation|cell division|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA replication|G1/S transition of mitotic cell cycle|G2 phase of mitotic cell cycle|G2/M transition of mitotic cell cycle|histone phosphorylation|M/G1 transition of mitotic cell cycle|mitosis|positive regulation of cell proliferation|Ras protein signal transduction|regulation of DNA replication|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|traversing start control point of mitotic cell cycle	cyclin-dependent protein kinase holoenzyme complex|cytosol	ATP binding|cyclin-dependent protein kinase activity|identical protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	18			UCEC - Uterine corpus endometrioid carcinoma (6;0.123)|OV - Ovarian serous cystadenocarcinoma(18;0.235)			TGTCATTCACACAGAAAATAA	0.438													6	104					0	0	1	0	0	G	56361852	A	G	56361852	3	3	81	1	0	0	0	0	1	0	0	0	3158	159	6	3	224	3	CDK2	12	56361852	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	26787	56361852	77490043	9643	13259											
SUOX	6821	broad.mit.edu	37	12	56398397	56398397	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:56398397C>A	ENST00000394109.3	+	3	1948	c.1224C>A	c.(1222-1224)gaC>gaA	p.D408E	SUOX_ENST00000394115.2_Missense_Mutation_p.D408E|SUOX_ENST00000266971.3_Missense_Mutation_p.D408E|SUOX_ENST00000551841.2_3'UTR|SUOX_ENST00000548274.1_Missense_Mutation_p.D408E|SUOX_ENST00000356124.4_Missense_Mutation_p.D408E			P51687	SUOX_HUMAN	sulfite oxidase	408	Molybdenum-pterin domain (By similarity).					mitochondrial intermembrane space	electron carrier activity|molybdenum ion binding|sulfite oxidase activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)	15			UCEC - Uterine corpus endometrioid carcinoma (6;0.0471)|OV - Ovarian serous cystadenocarcinoma(18;0.119)			CATCTGTGGACTGGGAGACTG	0.552													6	47					0.0293803	0.0300537	1	1	0	A	56398397	C	A	56398397	3	1	81	1	0	0	0	0	1	0	0	0	15451	564	20	4	1234	4	SUOX	12	56398397	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	36545	56398397	77453498	9644	13260											
IKZF4	64375	broad.mit.edu	37	12	56428881	56428881	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:56428881C>T	ENST00000262032.5	+	12	1891	c.1524C>T	c.(1522-1524)ggC>ggT	p.G508G	RP11-603J24.4_ENST00000551846.1_RNA|IKZF4_ENST00000547167.1_Silent_p.G508G|IKZF4_ENST00000431367.2_Silent_p.G406G|IKZF4_ENST00000547791.1_Silent_p.G463G			Q9H2S9	IKZF4_HUMAN	IKAROS family zinc finger 4 (Eos)	508					negative regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|lung(3)|ovary(1)|prostate(1)	8			UCEC - Uterine corpus endometrioid carcinoma (6;0.025)|OV - Ovarian serous cystadenocarcinoma(18;0.123)			TATTGCGGGGCACCCCAGGCC	0.647													44	50					0	0	1	0	0	T	56428881	C	T	56428881	2	4	81	1	0	0	0	0	0	0	0	1	7661	697	25	2		2	IKZF4	12	56428881	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	30484	56428881	77423014	9645	13261											
ERBB3	2065	broad.mit.edu	37	12	56487333	56487333	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:56487333C>T	ENST00000267101.3	+	12	1919	c.1479C>T	c.(1477-1479)tgC>tgT	p.C493C	ERBB3_ENST00000415288.2_Splice_Site_p.C434C|ERBB3_ENST00000450146.2_Intron	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	493					cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			GCAGAGACTGCGGTGAGGGAA	0.572													4	49					0	0	1	0	0	T	56487333	C	T	56487333	5	4	81	1	0	0	0	0	0	0	1	0	5236	782	27	1	1656	1	ERBB3	12	56487333	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	58452	56487333	77364562	9646	13262											
ERBB3	2065	broad.mit.edu	37	12	56493456	56493456	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:56493456G>A	ENST00000267101.3	+	24	3304	c.2864G>A	c.(2863-2865)cGc>cAc	p.R955H	ERBB3_ENST00000415288.2_Missense_Mutation_p.R896H|ERBB3_ENST00000450146.2_Missense_Mutation_p.R312H|ERBB3_ENST00000549832.1_Missense_Mutation_p.R75H|ERBB3_ENST00000553131.1_Missense_Mutation_p.R196H	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	955	Protein kinase.				cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			GAGAACATTCGCCCAACCTTT	0.493													15	37					0	0	1	0	0	A	56493456	G	A	56493456	3	1	81	1	0	0	0	0	1	0	0	0	5236	1087	38	1	3089	1	ERBB3	12	56493456	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	6123	56493456	77358439	9647	13263											
PA2G4	5036	broad.mit.edu	37	12	56504771	56504771	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:56504771C>A	ENST00000303305.6	+	10	1285	c.866C>A	c.(865-867)gCt>gAt	p.A289D	RP11-603J24.17_ENST00000548595.1_RNA|PA2G4_ENST00000552766.1_Intron	NM_006191.2	NP_006182.2	Q9UQ80	PA2G4_HUMAN	proliferation-associated 2G4, 38kDa	289					cell cycle arrest|cell proliferation|negative regulation of transcription, DNA-dependent|regulation of translation|rRNA processing	cytoplasm|nucleolus|ribonucleoprotein complex	DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|ubiquitin protein ligase binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(18;0.0739)			GAGAAGAAGGCTCGGATGGGT	0.423													6	20					0.0215528	0.0221217	1	1	0	A	56504771	C	A	56504771	3	1	81	1	0	0	0	0	1	0	0	0	11408	797	28	4	904	4	PA2G4	12	56504771	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	11315	56504771	77347124	9648	13264											
ZC3H10	84872	broad.mit.edu	37	12	56515435	56515435	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:56515435G>A	ENST00000257940.2	+	3	1365	c.1089G>A	c.(1087-1089)acG>acA	p.T363T	RP11-603J24.5_ENST00000550947.1_RNA|RP11-603J24.5_ENST00000549438.1_RNA	NM_032786.1	NP_116175.1	Q96K80	ZC3HA_HUMAN	zinc finger CCCH-type containing 10	363	Pro-rich.						nucleic acid binding|zinc ion binding			breast(1)|endometrium(4)|large_intestine(1)|lung(2)|prostate(2)|skin(1)	11			OV - Ovarian serous cystadenocarcinoma(18;0.12)			CAGAGATCACGCCACTGTCAG	0.627													11	20					0	0	1	0	0	A	56515435	G	A	56515435	2	1	81	1	0	0	0	0	0	0	0	1	17618	1074	38	1		1	ZC3H10	12	56515435	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	10664	56515435	77336460	9649	13265											
ESYT1	23344	broad.mit.edu	37	12	56530574	56530574	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:56530574C>A	ENST00000394048.5	+	16	1943	c.1679C>A	c.(1678-1680)cCt>cAt	p.P560H	ESYT1_ENST00000541590.1_Missense_Mutation_p.P570H|ESYT1_ENST00000267113.4_Missense_Mutation_p.P570H	NM_001184796.1|NM_015292.2	NP_001171725.1|NP_056107.1	Q9BSJ8	ESYT1_HUMAN	extended synaptotagmin-like protein 1	560						integral to membrane				breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	28						CTGACGCTGCCTCTGGCCCGC	0.552													5	36					0.217242	0.218703	1	1	0	A	56530574	C	A	56530574	3	1	81	1	0	0	0	0	1	0	0	0	5292	681	24	4	1771	4	ESYT1	12	56530574	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	15139	56530574	77321321	9650	13266											
ESYT1	23344	broad.mit.edu	37	12	56532196	56532196	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:56532196G>T	ENST00000394048.5	+	22	2610	c.2346G>T	c.(2344-2346)caG>caT	p.Q782H	ESYT1_ENST00000541590.1_Missense_Mutation_p.Q792H|ESYT1_ENST00000267113.4_Missense_Mutation_p.Q792H|ESYT1_ENST00000550878.1_3'UTR	NM_001184796.1|NM_015292.2	NP_001171725.1|NP_056107.1	Q9BSJ8	ESYT1_HUMAN	extended synaptotagmin-like protein 1	782						integral to membrane				breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	28						AGGTGCTGCAGGTGAATAGTT	0.592													3	8					0.184627	0.18622	1	1	0	T	56532196	G	T	56532196	3	4	81	1	0	0	0	0	1	0	0	0	5292	991	35	4	2462	4	ESYT1	12	56532196	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1622	56532196	77319699	9651	13267											
ESYT1	23344	broad.mit.edu	37	12	56536630	56536630	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:56536630C>T	ENST00000394048.5	+	27	3164	c.2900C>T	c.(2899-2901)gCt>gTt	p.A967V	ESYT1_ENST00000541590.1_Missense_Mutation_p.A977V|ESYT1_ENST00000267113.4_Missense_Mutation_p.A977V|ESYT1_ENST00000550878.1_3'UTR	NM_001184796.1|NM_015292.2	NP_001171725.1|NP_056107.1	Q9BSJ8	ESYT1_HUMAN	extended synaptotagmin-like protein 1	967						integral to membrane				breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	28						CCCCTTGAGGCTCCAGCCGGG	0.517													20	43					0	0	1	0	0	T	56536630	C	T	56536630	3	4	81	1	0	0	0	0	1	0	0	0	5292	797	28	2	3036	2	ESYT1	12	56536630	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	4434	56536630	77315265	9652	13268											
ESYT1	23344	broad.mit.edu	37	12	56536911	56536911	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:56536911T>C	ENST00000394048.5	+	28	3362	c.3098T>C	c.(3097-3099)cTg>cCg	p.L1033P	ESYT1_ENST00000541590.1_Missense_Mutation_p.L1043P|ESYT1_ENST00000267113.4_Missense_Mutation_p.L1043P	NM_001184796.1|NM_015292.2	NP_001171725.1|NP_056107.1	Q9BSJ8	ESYT1_HUMAN	extended synaptotagmin-like protein 1	1033	C2 5.					integral to membrane				breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	28						AAGAGGACCCTGAGTCCTGAA	0.537													29	40					0	0	1	0	0	C	56536911	T	C	56536911	3	2	81	1	0	0	0	0	1	0	0	0	5292	1580	55	3	3238	3	ESYT1	12	56536911	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	281	56536911	77314984	9653	13269											
MYL6	4637	broad.mit.edu	37	12	56555180	56555180	+	Missense_Mutation	SNP	G	G	A	rs112034060		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:56555180G>A	ENST00000549566.1	+	4	616	c.572G>A	c.(571-573)cGc>cAc	p.R191H	MYL6_ENST00000550697.1_3'UTR|MYL6_ENST00000293422.5_Missense_Mutation_p.R147H|MYL6_ENST00000548580.1_Missense_Mutation_p.R98H|MYL6_ENST00000548400.1_3'UTR|MYL6_ENST00000549017.1_Missense_Mutation_p.R42H|MYL6_ENST00000547649.1_Missense_Mutation_p.R146H|MYL6_ENST00000547408.1_Intron|MYL6_ENST00000348108.4_3'UTR			P60660	MYL6_HUMAN	myosin, light chain 6, alkali, smooth muscle and non-muscle	146					axon guidance|muscle filament sliding|skeletal muscle tissue development	cytosol|unconventional myosin complex	actin-dependent ATPase activity|calcium ion binding|motor activity|structural constituent of muscle			large_intestine(1)|lung(1)|ovary(1)|prostate(3)|skin(1)	7			OV - Ovarian serous cystadenocarcinoma(18;0.0979)			GAGCTCGTCCGCATGGTGCTG	0.552													28	51					0	0	1	0	0	A	56555180	G	A	56555180	3	1	81	1	0	0	0	0	1	0	0	0	10099	1087	38	1	492	1	MYL6	12	56555180	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	18269	56555180	77296715	9654	13270											
SLC39A5	283375	broad.mit.edu	37	12	56629383	56629383	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:56629383G>T	ENST00000266980.4	+	6	1137	c.844G>T	c.(844-846)Gag>Tag	p.E282*	SLC39A5_ENST00000454355.2_Nonsense_Mutation_p.E282*	NM_001135195.1	NP_001128667.1	Q6ZMH5	S39A5_HUMAN	solute carrier family 39 (zinc transporter), member 5	282					zinc ion transport	basolateral plasma membrane|integral to membrane	metal ion transmembrane transporter activity			NS(1)|cervix(6)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CGGACTACCAGAGAAGGACCT	0.627													18	219					3.99206e-14	5.05776e-14	1	1	0	T	56629383	G	T	56629383	4	4	81	1	0	0	0	0	0	1	0	0	14676	943	33	4	862	4	SLC39A5	12	56629383	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	74203	56629383	77222512	9655	13271											
SLC39A5	283375	broad.mit.edu	37	12	56631045	56631045	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:56631045G>T	ENST00000266980.4	+	10	1693	c.1400G>T	c.(1399-1401)aGc>aTc	p.S467I	SLC39A5_ENST00000454355.2_Missense_Mutation_p.S467I|SLC39A5_ENST00000419232.1_3'UTR	NM_001135195.1	NP_001128667.1	Q6ZMH5	S39A5_HUMAN	solute carrier family 39 (zinc transporter), member 5	467					zinc ion transport	basolateral plasma membrane|integral to membrane	metal ion transmembrane transporter activity			NS(1)|cervix(6)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GTGGGGCTCAGCCTGGGCCCT	0.647													16	27					9.16793e-09	1.09544e-08	1	1	0	T	56631045	G	T	56631045	3	4	81	1	0	0	0	0	1	0	0	0	14676	971	34	4	1434	4	SLC39A5	12	56631045	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1662	56631045	77220850	9656	13272											
CNPY2	10330	broad.mit.edu	37	12	56708994	56708994	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:56708994C>T	ENST00000273308.4	-	2	548	c.8G>A	c.(7-9)gGc>gAc	p.G3D	RP11-977G19.10_ENST00000549318.1_Missense_Mutation_p.G3D|CNPY2_ENST00000551720.1_5'UTR	NM_014255.5	NP_055070.1	Q9Y2B0	CNPY2_HUMAN	canopy FGF signaling regulator 2	3						endoplasmic reticulum|integral to plasma membrane	protein binding			large_intestine(2)|lung(2)	4						CCAACCCCAGCCTTTCATCTT	0.577													4	38					0	0	1	0	0	T	56708994	C	T	56708994	3	4	81	1	0	0	0	0	1	0	0	0	3651	739	26	2	560	2	CNPY2	12	56708994	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	77949	56708994	77142901	9657	13273											
PAN2	9924	broad.mit.edu	37	12	56715903	56715903	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:56715903T>C	ENST00000425394.2	-	20	3135	c.2759A>G	c.(2758-2760)tAt>tGt	p.Y920C	PAN2_ENST00000548043.1_Missense_Mutation_p.Y920C|PAN2_ENST00000440411.3_Missense_Mutation_p.Y916C|PAN2_ENST00000257931.5_Missense_Mutation_p.Y919C	NM_001127460.2	NP_001120932	Q504Q3	PAN2_HUMAN	PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)	920					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process	cytosol|nucleus	nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						TTTGACATAATAAAGGATTGC	0.398													56	84					0	0	1	0	0	C	56715903	T	C	56715903	3	2	81	1	0	0	0	0	1	0	0	0	11461	1406	49	3	877	3	PAN2	12	56715903	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	6909	56715903	77135992	9658	13274											
PAN2	9924	broad.mit.edu	37	12	56716231	56716231	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:56716231G>A	ENST00000425394.2	-	19	3061	c.2685C>T	c.(2683-2685)gaC>gaT	p.D895D	PAN2_ENST00000548043.1_Silent_p.D895D|PAN2_ENST00000440411.3_Silent_p.D891D|PAN2_ENST00000257931.5_Silent_p.D894D	NM_001127460.2	NP_001120932	Q504Q3	PAN2_HUMAN	PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)	895					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process	cytosol|nucleus	nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						CAATAAGAAAGTCATTGAACA	0.403													19	36					0	0	1	0	0	A	56716231	G	A	56716231	2	1	81	1	0	0	0	0	0	0	0	1	11461	1020	36	2		2	PAN2	12	56716231	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	328	56716231	77135664	9659	13275											
PAN2	9924	broad.mit.edu	37	12	56718252	56718252	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:56718252C>T	ENST00000425394.2	-	12	2130	c.1754G>A	c.(1753-1755)cGt>cAt	p.R585H	PAN2_ENST00000548043.1_Missense_Mutation_p.R585H|PAN2_ENST00000440411.3_Missense_Mutation_p.R585H|PAN2_ENST00000257931.5_Missense_Mutation_p.R585H	NM_001127460.2	NP_001120932	Q504Q3	PAN2_HUMAN	PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)	585					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process	cytosol|nucleus	nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						AGGAATAGTACGGAATGCCCG	0.502													4	51					0	0	1	0	0	T	56718252	C	T	56718252	3	4	81	1	0	0	0	0	1	0	0	0	11461	536	19	1	1914	1	PAN2	12	56718252	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2021	56718252	77133643	9660	13276											
PAN2	9924	broad.mit.edu	37	12	56720656	56720656	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:56720656A>G	ENST00000425394.2	-	7	1383	c.1007T>C	c.(1006-1008)tTt>tCt	p.F336S	PAN2_ENST00000548043.1_Missense_Mutation_p.F336S|PAN2_ENST00000440411.3_Missense_Mutation_p.F336S|PAN2_ENST00000257931.5_Missense_Mutation_p.F336S	NM_001127460.2	NP_001120932	Q504Q3	PAN2_HUMAN	PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)	336					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process	cytosol|nucleus	nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						TGACACATCAAATGTCATTAG	0.557													25	57					0	0	1	0	0	G	56720656	A	G	56720656	3	3	81	1	0	0	0	0	1	0	0	0	11461	14	1	3	2681	3	PAN2	12	56720656	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	2404	56720656	77131239	9661	13277											
PAN2	9924	broad.mit.edu	37	12	56721409	56721409	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:56721409G>T	ENST00000425394.2	-	6	1034	c.658C>A	c.(658-660)Ctg>Atg	p.L220M	PAN2_ENST00000548043.1_Missense_Mutation_p.L220M|PAN2_ENST00000440411.3_Missense_Mutation_p.L220M|PAN2_ENST00000257931.5_Missense_Mutation_p.L220M	NM_001127460.2	NP_001120932	Q504Q3	PAN2_HUMAN	PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)	220					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process	cytosol|nucleus	nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						AGGTCTCTCAGGGAAACCTAG	0.448													8	60					3.09899e-07	3.60815e-07	1	1	0	T	56721409	G	T	56721409	3	4	81	1	0	0	0	0	1	0	0	0	11461	991	35	4	3034	4	PAN2	12	56721409	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	753	56721409	77130486	9662	13278											
IL23A	51561	broad.mit.edu	37	12	56733533	56733533	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:56733533A>G	ENST00000228534.4	+	3	486	c.320A>G	c.(319-321)gAt>gGt	p.D107G		NM_016584.2	NP_057668.1	Q9NPF7	IL23A_HUMAN	interleukin 23, alpha subunit p19	107					defense response to Gram-negative bacterium|inflammatory response|innate immune response|negative regulation of interleukin-10 production|positive regulation of activated T cell proliferation|positive regulation of activation of JAK2 kinase activity|positive regulation of defense response to virus by host|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-17 production|positive regulation of memory T cell differentiation|positive regulation of natural killer cell proliferation|positive regulation of NF-kappaB import into nucleus|positive regulation of NK T cell activation|positive regulation of NK T cell proliferation|positive regulation of osteoclast differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat4 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|regulation of tyrosine phosphorylation of Stat1 protein|response to virus|tissue remodeling	interleukin-23 complex	cytokine activity			kidney(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	5						CTAGGATCGGATATTTTCACA	0.512													20	67					0	0	1	0	0	G	56733533	A	G	56733533	3	3	81	1	0	0	0	0	1	0	0	0	7719	333	12	3	330	3	IL23A	12	56733533	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	12124	56733533	77118362	9663	13279											
SPRYD4	283377	broad.mit.edu	37	12	56863244	56863244	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:56863244G>T	ENST00000338146.5	+	2	582	c.507G>T	c.(505-507)caG>caT	p.Q169H		NM_207344.3	NP_997227	Q8WW59	SPRY4_HUMAN	SPRY domain containing 4	169	B30.2/SPRY.					nucleus				kidney(1)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)	7						ATGTGAGCCAGGTCTCTGTGG	0.592													20	49					6.33239e-15	8.06005e-15	1	1	0	T	56863244	G	T	56863244	3	4	81	1	0	0	0	0	1	0	0	0	15166	991	35	4	513	4	SPRYD4	12	56863244	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	129711	56863244	76988651	9664	13280											
GLS2	27165	broad.mit.edu	37	12	56867069	56867069	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:56867069G>A	ENST00000311966.4	-	14	1670	c.1392C>T	c.(1390-1392)gaC>gaT	p.D464D		NM_013267.2	NP_037399.2	Q9UI32	GLSL_HUMAN	glutaminase 2 (liver, mitochondrial)	464					cellular amino acid biosynthetic process|glutamate secretion|glutamine metabolic process|neurotransmitter secretion	mitochondrial matrix	glutaminase activity|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	13					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	GCCTCAGGTTGTCATAGTTGT	0.423													22	30					0	0	1	0	0	A	56867069	G	A	56867069	2	1	81	1	0	0	0	0	0	0	0	1	6506	1368	48	2		2	GLS2	12	56867069	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	3825	56867069	76984826	9665	13281											
RBMS2	5939	broad.mit.edu	37	12	56980711	56980711	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:56980711G>T	ENST00000262031.5	+	10	1046		c.e10+1		RBMS2_ENST00000542360.1_Splice_Site|RBMS2_ENST00000550726.1_Splice_Site|RBMS2_ENST00000552247.2_Intron	NM_002898.3	NP_002889.1	Q15434	RBMS2_HUMAN	RNA binding motif, single stranded interacting protein 2						RNA processing	nucleus	nucleotide binding|RNA binding			breast(1)|endometrium(1)|large_intestine(2)|lung(8)|prostate(3)|skin(2)|urinary_tract(1)	18						GCAGCCTTCAGTGAGTATTCA	0.458													31	67					1.26612e-14	1.60906e-14	1	1	0	T	56980711	G	T	56980711	5	4	81	1	0	0	0	0	0	0	1	0	13201	1043	36	4	990	4	RBMS2	12	56980711	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	113642	56980711	76871184	9666	13282											
BAZ2A	11176	broad.mit.edu	37	12	56994235	56994235	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:56994235A>C	ENST00000179765.5	-	25	4751	c.4552T>G	c.(4552-4554)Ttg>Gtg	p.L1518V	BAZ2A_ENST00000379441.3_Missense_Mutation_p.L1520V|BAZ2A_ENST00000551812.1_Missense_Mutation_p.L1550V|BAZ2A_ENST00000549884.1_Missense_Mutation_p.L1548V			Q9UIF9	BAZ2A_HUMAN	bromodomain adjacent to zinc finger domain, 2A	1550					chromatin silencing at rDNA|DNA methylation|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	DNA binding|histone acetyl-lysine binding|ligand-dependent nuclear receptor binding|RNA binding|zinc ion binding			breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						CAGTAGGCCAAGTCTTCACGG	0.517													24	36					0	0	1	0	0	C	56994235	A	C	56994235	3	2	81	1	0	0	0	0	1	0	0	0	1329	69	3	5	1093	5	BAZ2A	12	56994235	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	13524	56994235	76857660	9667	13283											
BAZ2A	11176	broad.mit.edu	37	12	56995055	56995055	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:56995055C>T	ENST00000179765.5	-	22	4312	c.4113G>A	c.(4111-4113)caG>caA	p.Q1371Q	BAZ2A_ENST00000379441.3_Silent_p.Q1373Q|BAZ2A_ENST00000551812.1_Silent_p.Q1403Q|BAZ2A_ENST00000553222.1_5'UTR|BAZ2A_ENST00000549884.1_Silent_p.Q1401Q			Q9UIF9	BAZ2A_HUMAN	bromodomain adjacent to zinc finger domain, 2A	1403	Pro-rich.				chromatin silencing at rDNA|DNA methylation|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	DNA binding|histone acetyl-lysine binding|ligand-dependent nuclear receptor binding|RNA binding|zinc ion binding			breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						TCCGTTTGGGCTGTCCCAGCC	0.592													16	22					0	0	1	0	0	T	56995055	C	T	56995055	2	4	81	1	0	0	0	0	0	0	0	1	1329	796	28	2		2	BAZ2A	12	56995055	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	820	56995055	76856840	9668	13284											
BAZ2A	11176	broad.mit.edu	37	12	56996556	56996556	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:56996556C>T	ENST00000179765.5	-	20	3474	c.3275G>A	c.(3274-3276)cGc>cAc	p.R1092H	BAZ2A_ENST00000379441.3_Missense_Mutation_p.R1094H|BAZ2A_ENST00000551812.1_Missense_Mutation_p.R1124H|BAZ2A_ENST00000549884.1_Missense_Mutation_p.R1122H			Q9UIF9	BAZ2A_HUMAN	bromodomain adjacent to zinc finger domain, 2A	1124					chromatin silencing at rDNA|DNA methylation|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	DNA binding|histone acetyl-lysine binding|ligand-dependent nuclear receptor binding|RNA binding|zinc ion binding			breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						TACCCAGTAGCGACGTCTGTA	0.517													5	25					0	0	1	0	0	T	56996556	C	T	56996556	3	4	81	1	0	0	0	0	1	0	0	0	1329	768	27	1	2390	1	BAZ2A	12	56996556	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1501	56996556	76855339	9669	13285											
ATP5B	506	broad.mit.edu	37	12	57039093	57039093	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:57039093C>T	ENST00000262030.3	-	2	222	c.172G>A	c.(172-174)Gcc>Acc	p.A58T	ATP5B_ENST00000552919.1_Missense_Mutation_p.A58T	NM_001686.3	NP_001677.2	P06576	ATPB_HUMAN	ATP synthase, H+ transporting, mitochondrial F1 complex, beta polypeptide	58					angiogenesis|ATP hydrolysis coupled proton transport|regulation of intracellular pH|respiratory electron transport chain	cell surface|mitochondrial nucleoid|mitochondrial proton-transporting ATP synthase, catalytic core|plasma membrane	ATP binding|eukaryotic cell surface binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|hydrogen-exporting ATPase activity, phosphorylative mechanism|MHC class I protein binding|proton-transporting ATPase activity, rotational mechanism			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CCGGTGGCGGCGCCTGCTTTT	0.562													26	64					0	0	1	0	0	T	57039093	C	T	57039093	3	4	81	1	0	0	0	0	1	0	0	0	1147	768	27	1	1453	1	ATP5B	12	57039093	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	42537	57039093	76812802	9670	13286											
NACA	4666	broad.mit.edu	37	12	57110603	57110603	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:57110603G>T	ENST00000454682.1	-	3	4992	c.4711C>A	c.(4711-4713)Cca>Aca	p.P1571T	NACA_ENST00000552540.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000551793.1_Intron	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN	nascent polypeptide-associated complex alpha subunit	0					interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						GGGGTAGCTGGGGCTTCTTTG	0.587			T	BCL6	NHL								5	24					0.00116845	0.00124301	1	1	0	T	57110603	G	T	57110603	3	4	81	1	0	0	0	0	1	0	0	0	10181	1232	43	5	1553	5	NACA	12	57110603	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	71510	57110603	76741292	9671	13287											
NACA	4666	broad.mit.edu	37	12	57111806	57111806	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:57111806C>T	ENST00000454682.1	-	3	3789	c.3508G>A	c.(3508-3510)Ggg>Agg	p.G1170R	NACA_ENST00000552540.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000551793.1_Intron	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN	nascent polypeptide-associated complex alpha subunit	0					interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						GTGGGGGCCCCTTTTGGGGGT	0.622			T	BCL6	NHL								38	65					0	0	1	0	0	T	57111806	C	T	57111806	3	4	81	1	0	0	0	0	1	0	0	0	10181	681	24	2	2756	2	NACA	12	57111806	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1203	57111806	76740089	9672	13288											
NACA	4666	broad.mit.edu	37	12	57112225	57112225	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:57112225T>C	ENST00000454682.1	-	3	3370	c.3089A>G	c.(3088-3090)aAa>aGa	p.K1030R	NACA_ENST00000552540.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000551793.1_Intron	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN	nascent polypeptide-associated complex alpha subunit	0					interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						GGATGCCCCTTTGGGGAATGG	0.637			T	BCL6	NHL								4	45					0	0	1	0	0	C	57112225	T	C	57112225	3	2	81	1	0	0	0	0	1	0	0	0	10181	1841	64	3	3175	3	NACA	12	57112225	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	419	57112225	76739670	9673	13289											
NACA	4666	broad.mit.edu	37	12	57115005	57115005	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:57115005T>C	ENST00000454682.1	-	3	590	c.309A>G	c.(307-309)ctA>ctG	p.L103L	NACA_ENST00000552540.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000550952.1_Silent_p.L103L|NACA_ENST00000551793.1_Intron	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN	nascent polypeptide-associated complex alpha subunit	35	NAC-A/B.				interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						TTAGGTTTGGTAGGAAGGTTG	0.547			T	BCL6	NHL								4	34					0	0	1	0	0	C	57115005	T	C	57115005	2	2	81	1	0	0	0	0	0	0	0	1	10181	1625	57	3		3	NACA	12	57115005	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	2780	57115005	76736890	9674	13290											
SDR9C7	121214	broad.mit.edu	37	12	57323240	57323240	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:57323240G>A	ENST00000293502.1	-	3	801	c.658C>T	c.(658-660)Cga>Tga	p.R220*		NM_148897.2	NP_683695.1	Q8NEX9	DR9C7_HUMAN	short chain dehydrogenase/reductase family 9C, member 7	220						cytoplasm	binding|oxidoreductase activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|pancreas(1)	7						CAAAGCTTTCGCATGCGTGAC	0.562													6	65					0	0	1	0	0	A	57323240	G	A	57323240	4	1	81	1	0	0	0	0	0	1	0	0	14028	1095	38	1	291	1	SDR9C7	12	57323240	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	208235	57323240	76528655	9675	13291											
ZBTB39	9880	broad.mit.edu	37	12	57398141	57398141	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:57398141C>A	ENST00000300101.2	-	2	646	c.561G>T	c.(559-561)aaG>aaT	p.K187N		NM_014830.2	NP_055645.1	O15060	ZBT39_HUMAN	zinc finger and BTB domain containing 39	187					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|prostate(1)	16						TGGCAACATTCTTCTCTTCCT	0.552													43	81					6.21074e-16	7.94764e-16	1	1	0	A	57398141	C	A	57398141	3	1	81	1	0	0	0	0	1	0	0	0	17599	912	32	4	1581	4	ZBTB39	12	57398141	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	74901	57398141	76453754	9676	13292											
MYO1A	4640	broad.mit.edu	37	12	57432321	57432321	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:57432321G>T	ENST00000442789.2	-	18	1922	c.1635C>A	c.(1633-1635)tcC>tcA	p.S545S	MYO1A_ENST00000476795.1_5'UTR|MYO1A_ENST00000544473.1_Silent_p.S383S|MYO1A_ENST00000300119.3_Silent_p.S545S	NM_001256041.1	NP_001242970.1	Q9UBC5	MYO1A_HUMAN	myosin IA	545	Myosin head-like.				sensory perception of sound|vesicle localization	brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						CAGGAAACAAGGACCGAAGGA	0.532													15	48					7.93312e-07	9.15943e-07	1	1	0	T	57432321	G	T	57432321	2	4	81	1	0	0	0	0	0	0	0	1	10116	987	35	4		4	MYO1A	12	57432321	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	34180	57432321	76419574	9677	13293											
MYO1A	4640	broad.mit.edu	37	12	57441824	57441824	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:57441824T>C	ENST00000442789.2	-	4	466	c.179A>G	c.(178-180)gAg>gGg	p.E60G	MYO1A_ENST00000300119.3_Missense_Mutation_p.E60G	NM_001256041.1	NP_001242970.1	Q9UBC5	MYO1A_HUMAN	myosin IA	60	Myosin head-like.				sensory perception of sound|vesicle localization	brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						GGCAATGAACTCTGGCCCATA	0.493													4	61					0	0	1	0	0	C	57441824	T	C	57441824	3	2	81	1	0	0	0	0	1	0	0	0	10116	1551	54	3	3056	3	MYO1A	12	57441824	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	9503	57441824	76410071	9678	13294											
TMEM194A	23306	broad.mit.edu	37	12	57457058	57457058	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:57457058C>T	ENST00000300128.4	-	7	847	c.824G>A	c.(823-825)cGa>cAa	p.R275Q	TMEM194A_ENST00000379391.3_Missense_Mutation_p.R202Q	NM_001130963.1	NP_001124435.1	O14524	T194A_HUMAN	transmembrane protein 194A	275						integral to membrane				endometrium(3)|large_intestine(3)|lung(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						GTTGATACTTCGTTCATTCTC	0.428													34	51					0	0	1	0	0	T	57457058	C	T	57457058	3	4	81	1	0	0	0	0	1	0	0	0	16176	884	31	1	522	1	TMEM194A	12	57457058	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	15234	57457058	76394837	9679	13295											
STAT6	6778	broad.mit.edu	37	12	57490680	57490680	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:57490680T>A	ENST00000300134.3	-	21	2632	c.2307A>T	c.(2305-2307)gaA>gaT	p.E769D	STAT6_ENST00000537215.2_Missense_Mutation_p.E659D|STAT6_ENST00000454075.3_Missense_Mutation_p.E769D|STAT6_ENST00000556155.1_Missense_Mutation_p.E769D|STAT6_ENST00000538913.2_Missense_Mutation_p.E659D|STAT6_ENST00000543873.2_Missense_Mutation_p.E769D	NM_001178078.1|NM_003153.4	NP_001171549.1|NP_003144.3	P42226	STAT6_HUMAN	signal transducer and activator of transcription 6, interleukin-4 induced	769					regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	28						GGCAGCTGTCTTCCACCATGG	0.642													4	40					0	0	1	0	0	A	57490680	T	A	57490680	3	1	81	1	0	0	0	0	1	0	0	0	15326	1606	56	5	244	5	STAT6	12	57490680	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	33622	57490680	76361215	9680	13296											
STAT6	6778	broad.mit.edu	37	12	57499092	57499092	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:57499092C>A	ENST00000300134.3	-	9	1168	c.843G>T	c.(841-843)caG>caT	p.Q281H	STAT6_ENST00000537215.2_Missense_Mutation_p.Q171H|STAT6_ENST00000454075.3_Missense_Mutation_p.Q281H|STAT6_ENST00000556155.1_Missense_Mutation_p.Q281H|STAT6_ENST00000538913.2_Missense_Mutation_p.Q171H|STAT6_ENST00000543873.2_Missense_Mutation_p.Q281H	NM_001178078.1|NM_003153.4	NP_001171549.1|NP_003144.3	P42226	STAT6_HUMAN	signal transducer and activator of transcription 6, interleukin-4 induced	281					regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	28						TCTTCAGTACCTGGGGGGGCT	0.632													5	43					0.014758	0.0152304	1	1	0	A	57499092	C	A	57499092	3	1	81	1	0	0	0	0	1	0	0	0	15326	680	24	4	1756	4	STAT6	12	57499092	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	8412	57499092	76352803	9681	13297											
LRP1	4035	broad.mit.edu	37	12	57532252	57532252	+	Silent	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:57532252T>G	ENST00000243077.3	+	2	544	c.78T>G	c.(76-78)acT>acG	p.T26T	LRP1_ENST00000553277.1_Silent_p.T26T|LRP1_ENST00000554174.1_Silent_p.T26T|LRP1_ENST00000338962.4_Silent_p.T26T	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	26	LDL-receptor class A 1.				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CCCCTAAGACTTGCAGCCCCA	0.532													8	109					0	0	1	0	0	G	57532252	T	G	57532252	2	3	81	1	0	0	0	0	0	0	0	1	8996	1596	56	5		5	LRP1	12	57532252	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	33160	57532252	76319643	9682	13298											
LRP1	4035	broad.mit.edu	37	12	57556241	57556241	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:57556241C>A	ENST00000243077.3	+	14	2810	c.2344C>A	c.(2344-2346)Ctg>Atg	p.L782M		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	782					aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	TGTGACCCTTCTGCGCAGTGA	0.612													29	48					4.22769e-11	5.22336e-11	1	1	0	A	57556241	C	A	57556241	3	1	81	1	0	0	0	0	1	0	0	0	8996	912	32	4	2398	4	LRP1	12	57556241	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	23989	57556241	76295654	9683	13299											
LRP1	4035	broad.mit.edu	37	12	57570895	57570895	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:57570895G>A	ENST00000243077.3	+	25	4529	c.4063G>A	c.(4063-4065)Gca>Aca	p.A1355T		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	1355					aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	AGACTGGATTGCAGGCAACAT	0.582													5	72					0	0	1	0	0	A	57570895	G	A	57570895	3	1	81	1	0	0	0	0	1	0	0	0	8996	1319	46	2	4161	2	LRP1	12	57570895	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	14654	57570895	76281000	9684	13300											
LRP1	4035	broad.mit.edu	37	12	57573202	57573202	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:57573202C>T	ENST00000243077.3	+	29	5295	c.4829C>T	c.(4828-4830)aCg>aTg	p.T1610M		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	1610					aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	ATCTCCTTCACGGTGCCCGAC	0.567													15	17					0	0	1	0	0	T	57573202	C	T	57573202	3	4	81	1	0	0	0	0	1	0	0	0	8996	536	19	1	4943	1	LRP1	12	57573202	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2307	57573202	76278693	9685	13301											
LRP1	4035	broad.mit.edu	37	12	57574962	57574962	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:57574962C>T	ENST00000243077.3	+	34	6016	c.5550C>T	c.(5548-5550)tgC>tgT	p.C1850C		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	1850	EGF-like 8.				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CCAACCCCTGCAGTGTCAACA	0.647													5	56					0	0	1	0	0	T	57574962	C	T	57574962	2	4	81	1	0	0	0	0	0	0	0	1	8996	718	25	2		2	LRP1	12	57574962	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1760	57574962	76276933	9686	13302											
LRP1	4035	broad.mit.edu	37	12	57577599	57577599	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:57577599A>G	ENST00000243077.3	+	36	6302	c.5836A>G	c.(5836-5838)Atc>Gtc	p.I1946V		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	1946					aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CCTGAGCACGATCAGCCGGGC	0.602													11	36					0	0	1	0	0	G	57577599	A	G	57577599	3	3	81	1	0	0	0	0	1	0	0	0	8996	333	12	3	5978	3	LRP1	12	57577599	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	2637	57577599	76274296	9687	13303											
LRP1	4035	broad.mit.edu	37	12	57589899	57589899	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:57589899C>A	ENST00000243077.3	+	55	9197	c.8731C>A	c.(8731-8733)Ctg>Atg	p.L2911M		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	2911	LDL-receptor class A 20.				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	GTCACAGTTCCTGTGCAGCAG	0.662													7	45					0.00307968	0.00324365	1	1	0	A	57589899	C	A	57589899	3	1	81	1	0	0	0	0	1	0	0	0	8996	680	24	4	8949	4	LRP1	12	57589899	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	12300	57589899	76261996	9688	13304											
LRP1	4035	broad.mit.edu	37	12	57595294	57595294	+	Missense_Mutation	SNP	G	G	A	rs149436792		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:57595294G>A	ENST00000243077.3	+	66	10826	c.10360G>A	c.(10360-10362)Gcc>Acc	p.A3454T		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	3454	LDL-receptor class A 24.				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	p.A3454T(1)		NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	GGTGACCTGCGCCCCCAACCA	0.607													18	17					0	0	1	0	0	A	57595294	G	A	57595294	3	1	81	1	0	0	0	0	1	0	0	0	8996	1087	38	1	10622	1	LRP1	12	57595294	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	5395	57595294	76256601	9689	13305											
LRP1	4035	broad.mit.edu	37	12	57599399	57599399	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:57599399C>T	ENST00000243077.3	+	75	11995	c.11529C>T	c.(11527-11529)ggC>ggT	p.G3843G		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	3843	EGF-like 15.				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	ACACCAAGGGCGGCCACCTCT	0.617													20	39					0	0	1	0	0	T	57599399	C	T	57599399	2	4	81	1	0	0	0	0	0	0	0	1	8996	755	27	1		1	LRP1	12	57599399	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	4105	57599399	76252496	9690	13306	64	2									
LRP1	4035	broad.mit.edu	37	12	57599408	57599408	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:57599408C>A	ENST00000243077.3	+	75	12004	c.11538C>A	c.(11536-11538)ctC>ctA	p.L3846L		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	3846	EGF-like 15.				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	GCGGCCACCTCTGCAGCTGCG	0.627													19	40					0.000175454	0.000191485	1	1	0	A	57599408	C	A	57599408	2	1	81	1	0	0	0	0	0	0	0	1	8996	900	32	4		4	LRP1	12	57599408	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	9	57599408	76252487	9691	13307	64	2									
LRP1	4035	broad.mit.edu	37	12	57600483	57600483	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:57600483C>T	ENST00000243077.3	+	76	12284	c.11818C>T	c.(11818-11820)Cgc>Tgc	p.R3940C		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	3940					aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CACTTCCAACCGCCACCGGCG	0.617													17	26					0	0	1	0	0	T	57600483	C	T	57600483	3	4	81	1	0	0	0	0	1	0	0	0	8996	652	23	1	12120	1	LRP1	12	57600483	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1075	57600483	76251412	9692	13308											
LRP1	4035	broad.mit.edu	37	12	57605281	57605281	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:57605281G>A	ENST00000243077.3	+	85	13569	c.13103G>A	c.(13102-13104)gGc>gAc	p.G4368D		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	4368	EGF-like 21.				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	TGCACGGATGGCCGGGTGGCC	0.647													4	32					0	0	1	0	0	A	57605281	G	A	57605281	3	1	81	1	0	0	0	0	1	0	0	0	8996	1203	42	2	13441	2	LRP1	12	57605281	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	4798	57605281	76246614	9693	13309											
NXPH4	11247	broad.mit.edu	37	12	57619494	57619494	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:57619494C>T	ENST00000349394.5	+	2	1066	c.891C>T	c.(889-891)gaC>gaT	p.D297D		NM_007224.3	NP_009155.1	O95158	NXPH4_HUMAN	neurexophilin 4	297	V (Cys-rich).				neuropeptide signaling pathway	extracellular region				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(2)|stomach(1)|upper_aerodigestive_tract(1)	10						TGTGCCCAGACTATAACTTCC	0.577													14	21					0	0	1	0	0	T	57619494	C	T	57619494	2	4	81	1	0	0	0	0	0	0	0	1	10841	564	20	2		2	NXPH4	12	57619494	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	14213	57619494	76232401	9694	13310											
SHMT2	6472	broad.mit.edu	37	12	57627032	57627032	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:57627032C>T	ENST00000328923.3	+	8	1379	c.927C>T	c.(925-927)taC>taT	p.Y309Y	SHMT2_ENST00000557487.1_Silent_p.Y299Y|SHMT2_ENST00000553474.1_Silent_p.Y288Y|SHMT2_ENST00000449049.3_Silent_p.Y288Y|SHMT2_ENST00000393827.4_Silent_p.Y213Y|SHMT2_ENST00000414700.3_Silent_p.Y288Y	NM_001166356.1|NM_005412.5	NP_001159828.1|NP_005403.2	P34897	GLYM_HUMAN	serine hydroxymethyltransferase 2 (mitochondrial)	309						microtubule cytoskeleton|mitochondrial nucleoid	glycine hydroxymethyltransferase activity|methyltransferase activity			breast(1)|central_nervous_system(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	15					Glycine(DB00145)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116)	AGATCCCTTACACATTTGAGG	0.567													12	32					0	0	1	0	0	T	57627032	C	T	57627032	2	4	81	1	0	0	0	0	0	0	0	1	14341	489	17	2		2	SHMT2	12	57627032	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	7538	57627032	76224863	9695	13311											
INHBE	83729	broad.mit.edu	37	12	57849418	57849418	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:57849418A>G	ENST00000266646.2	+	1	315	c.99A>G	c.(97-99)aaA>aaG	p.K33K	INHBE_ENST00000551553.1_Intron	NM_031479.3	NP_113667.1	P58166	INHBE_HUMAN	inhibin, beta E	33					growth	extracellular region	growth factor activity|hormone activity			breast(2)|central_nervous_system(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)	15						GGGGCTCCAAACTGGCACCCC	0.612													4	29					0	0	1	0	0	G	57849418	A	G	57849418	2	3	81	1	0	0	0	0	0	0	0	1	7788	40	2	3		3	INHBE	12	57849418	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	222386	57849418	76002477	9696	13312											
INHBE	83729	broad.mit.edu	37	12	57849882	57849882	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:57849882A>G	ENST00000266646.2	+	2	520	c.304A>G	c.(304-306)Act>Gct	p.T102A	INHBE_ENST00000551553.1_3'UTR	NM_031479.3	NP_113667.1	P58166	INHBE_HUMAN	inhibin, beta E	102					growth	extracellular region	growth factor activity|hormone activity			breast(2)|central_nervous_system(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)	15						GGCAGACTCCACTTCAGCCTA	0.582											OREG0021944	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	98	160					0	0	1	0	0	G	57849882	A	G	57849882	3	3	81	1	0	0	0	0	1	0	0	0	7788	159	6	3	310	3	INHBE	12	57849882	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	464	57849882	76002013	9697	13313											
GLI1	2735	broad.mit.edu	37	12	57861780	57861780	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:57861780C>T	ENST00000228682.2	+	10	1172	c.1081C>T	c.(1081-1083)Ccg>Tcg	p.P361S	GLI1_ENST00000546141.1_Missense_Mutation_p.P320S|GLI1_ENST00000543426.1_Missense_Mutation_p.P233S	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GLI family zinc finger 1	361					epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			TCAACAGAAGCCGTATGTATG	0.517													9	21					0	0	1	0	0	T	57861780	C	T	57861780	3	4	81	1	0	0	0	0	1	0	0	0	6479	739	26	2	1115	2	GLI1	12	57861780	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	11898	57861780	75990115	9698	13314											
ARHGAP9	64333	broad.mit.edu	37	12	57867416	57867416	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:57867416G>T	ENST00000393797.2	-	20	2456	c.2264C>A	c.(2263-2265)aCt>aAt	p.T755N	ARHGAP9_ENST00000393791.3_Missense_Mutation_p.T665N|ARHGAP9_ENST00000550288.1_3'UTR|ARHGAP9_ENST00000356411.2_Missense_Mutation_p.T684N|ARHGAP9_ENST00000430041.2_Missense_Mutation_p.T481N|ARHGAP9_ENST00000424809.2_Intron			Q9BRR9	RHG09_HUMAN	Rho GTPase activating protein 9	684					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)	30			GBM - Glioblastoma multiforme(3;3.37e-34)			GTACCGTAGAGTGTCATGGTT	0.502													24	39					2.12542e-12	2.65769e-12	1	1	0	T	57867416	G	T	57867416	3	4	81	1	0	0	0	0	1	0	0	0	886	1029	36	4	209	4	ARHGAP9	12	57867416	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	5636	57867416	75984479	9699	13315											
ARHGAP9	64333	broad.mit.edu	37	12	57867954	57867954	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:57867954G>A	ENST00000393797.2	-	19	2251	c.2059C>T	c.(2059-2061)Cgg>Tgg	p.R687W	ARHGAP9_ENST00000393791.3_Missense_Mutation_p.R597W|ARHGAP9_ENST00000550288.1_Missense_Mutation_p.R676W|ARHGAP9_ENST00000356411.2_Missense_Mutation_p.R616W|ARHGAP9_ENST00000430041.2_Missense_Mutation_p.R413W|ARHGAP9_ENST00000424809.2_Missense_Mutation_p.R597W			Q9BRR9	RHG09_HUMAN	Rho GTPase activating protein 9	616	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)	30			GBM - Glioblastoma multiforme(3;3.37e-34)			AAATCTAACCGACCTTCTGGA	0.517													11	23					0	0	1	0	0	A	57867954	G	A	57867954	3	1	81	1	0	0	0	0	1	0	0	0	886	1057	37	1	418	1	ARHGAP9	12	57867954	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	538	57867954	75983941	9700	13316											
ARHGAP9	64333	broad.mit.edu	37	12	57872425	57872425	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:57872425G>A	ENST00000393797.2	-	6	837	c.645C>T	c.(643-645)agC>agT	p.S215S	ARHGAP9_ENST00000393791.3_Silent_p.S144S|ARHGAP9_ENST00000550288.1_Silent_p.S223S|ARHGAP9_ENST00000356411.2_Silent_p.S144S|ARHGAP9_ENST00000424809.2_Silent_p.S144S			Q9BRR9	RHG09_HUMAN	Rho GTPase activating protein 9	144	WW.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)	30			GBM - Glioblastoma multiforme(3;3.37e-34)			GATTGTCAGTGCTGACGCTCC	0.592													9	105					0	0	1	0	0	A	57872425	G	A	57872425	2	1	81	1	0	0	0	0	0	0	0	1	886	1310	46	2		2	ARHGAP9	12	57872425	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	4471	57872425	75979470	9701	13317											
MARS	4141	broad.mit.edu	37	12	57891945	57891945	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:57891945C>A	ENST00000262027.5	+	8	910	c.776C>A	c.(775-777)cCt>cAt	p.P259H	MARS_ENST00000447721.2_3'UTR|MARS_ENST00000315473.5_Missense_Mutation_p.P25H	NM_004990.3	NP_004981.2	P56192	SYMC_HUMAN	methionyl-tRNA synthetase	259					methionyl-tRNA aminoacylation	cytosol	ATP binding|methionine-tRNA ligase activity|protein binding|tRNA binding			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	33			GBM - Glioblastoma multiforme(3;4.27e-41)		L-Methionine(DB00134)	ACTAGGTTGCCTGTGGCTGGA	0.517													27	37					1.16021e-09	1.40594e-09	1	1	0	A	57891945	C	A	57891945	3	1	81	1	0	0	0	0	1	0	0	0	9366	681	24	4	806	4	MARS	12	57891945	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	19520	57891945	75959950	9702	13318											
MARS	4141	broad.mit.edu	37	12	57891963	57891963	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:57891963A>C	ENST00000262027.5	+	8	928	c.794A>C	c.(793-795)aAt>aCt	p.N265T	MARS_ENST00000447721.2_3'UTR|MARS_ENST00000315473.5_Missense_Mutation_p.N31T	NM_004990.3	NP_004981.2	P56192	SYMC_HUMAN	methionyl-tRNA synthetase	265					methionyl-tRNA aminoacylation	cytosol	ATP binding|methionine-tRNA ligase activity|protein binding|tRNA binding			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	33			GBM - Glioblastoma multiforme(3;4.27e-41)		L-Methionine(DB00134)	GGAGAAAGGAATGTGCTCATC	0.537													6	50					0	0	1	0	0	C	57891963	A	C	57891963	3	2	81	1	0	0	0	0	1	0	0	0	9366	101	4	4	824	4	MARS	12	57891963	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	18	57891963	75959932	9703	13319											
MARS	4141	broad.mit.edu	37	12	57894244	57894244	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:57894244A>T	ENST00000262027.5	+	10	1366	c.1232A>T	c.(1231-1233)gAg>gTg	p.E411V	MARS_ENST00000447721.2_3'UTR|MARS_ENST00000315473.5_Missense_Mutation_p.E177V	NM_004990.3	NP_004981.2	P56192	SYMC_HUMAN	methionyl-tRNA synthetase	411					methionyl-tRNA aminoacylation	cytosol	ATP binding|methionine-tRNA ligase activity|protein binding|tRNA binding			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	33			GBM - Glioblastoma multiforme(3;4.27e-41)		L-Methionine(DB00134)	TGTGGCTATGAGGAGGCTCGG	0.572													4	52					0	0	1	0	0	T	57894244	A	T	57894244	3	4	81	1	0	0	0	0	1	0	0	0	9366	304	11	5	1270	5	MARS	12	57894244	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	2281	57894244	75957651	9704	13320											
MARS	4141	broad.mit.edu	37	12	57905572	57905572	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:57905572G>A	ENST00000262027.5	+	12	1594	c.1460G>A	c.(1459-1461)cGg>cAg	p.R487Q	MARS_ENST00000447721.2_3'UTR|MARS_ENST00000315473.5_Missense_Mutation_p.R253Q	NM_004990.3	NP_004981.2	P56192	SYMC_HUMAN	methionyl-tRNA synthetase	487					methionyl-tRNA aminoacylation	cytosol	ATP binding|methionine-tRNA ligase activity|protein binding|tRNA binding			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	33			GBM - Glioblastoma multiforme(3;4.27e-41)		L-Methionine(DB00134)	TCTTGGCTTCGGGATGGCCTC	0.512													14	20					0	0	1	0	0	A	57905572	G	A	57905572	3	1	81	1	0	0	0	0	1	0	0	0	9366	1116	39	1	1506	1	MARS	12	57905572	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	11328	57905572	75946323	9705	13321											
MBD6	114785	broad.mit.edu	37	12	57919917	57919917	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:57919917C>A	ENST00000355673.3	+	6	1522	c.1166C>A	c.(1165-1167)cCt>cAt	p.P389H	MBD6_ENST00000431731.2_Missense_Mutation_p.P389H	NM_052897.3	NP_443129.3	Q96DN6	MBD6_HUMAN	methyl-CpG binding domain protein 6	389	Pro-rich.					chromosome|nucleus	chromatin binding|DNA binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						CGGAGCCGTCCTCGGGCCCCT	0.622													21	36					1.01871e-10	1.25121e-10	1	1	0	A	57919917	C	A	57919917	3	1	81	1	0	0	0	0	1	0	0	0	9398	681	24	4	1180	4	MBD6	12	57919917	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	14345	57919917	75931978	9706	13322											
KIF5A	3798	broad.mit.edu	37	12	57969503	57969503	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:57969503C>T	ENST00000455537.2	+	17	2260	c.1986C>T	c.(1984-1986)gaC>gaT	p.D662D	KIF5A_ENST00000286452.5_Silent_p.D573D	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN	kinesin family member 5A	662					blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						AGTCCTATGACTCCTTGAGCG	0.532													70	132					0	0	1	0	0	T	57969503	C	T	57969503	2	4	81	1	0	0	0	0	0	0	0	1	8347	564	20	2		2	KIF5A	12	57969503	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	49586	57969503	75882392	9707	13323											
SLC26A10	65012	broad.mit.edu	37	12	58016682	58016682	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:58016682G>A	ENST00000379218.2	+	6	1215	c.904G>A	c.(904-906)Gca>Aca	p.A302T	SLC26A10_ENST00000320442.4_Missense_Mutation_p.A302T			Q8NG04	S2610_HUMAN	solute carrier family 26, member 10	302						integral to membrane	antiporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)	19	Melanoma(17;0.122)					CTCCATCCATGCAGACAAGTA	0.562													18	26					0	0	1	0	0	A	58016682	G	A	58016682	3	1	81	1	0	0	0	0	1	0	0	0	14570	1319	46	2	926	2	SLC26A10	12	58016682	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	47179	58016682	75835213	9708	13324											
SLC26A10	65012	broad.mit.edu	37	12	58016897	58016897	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:58016897G>A	ENST00000379218.2	+	7	1341	c.1030G>A	c.(1030-1032)Gtg>Atg	p.V344M	SLC26A10_ENST00000320442.4_Missense_Mutation_p.V344M			Q8NG04	S2610_HUMAN	solute carrier family 26, member 10	344						integral to membrane	antiporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)	19	Melanoma(17;0.122)					CAATCTACTGGTGGATGCTGG	0.567													65	92					0	0	1	0	0	A	58016897	G	A	58016897	3	1	81	1	0	0	0	0	1	0	0	0	14570	1261	44	2	1056	2	SLC26A10	12	58016897	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	215	58016897	75834998	9709	13325											
B4GALNT1	2583	broad.mit.edu	37	12	58022541	58022541	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:58022541G>A	ENST00000341156.4	-	8	1541	c.957C>T	c.(955-957)cgC>cgT	p.R319R	B4GALNT1_ENST00000418555.2_Silent_p.R264R|B4GALNT1_ENST00000449184.3_Silent_p.R286R	NM_001478.3	NP_001469.1	Q00973	B4GN1_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 1	319					lipid glycosylation	integral to Golgi membrane|membrane fraction	(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|urinary_tract(1)	20	Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			GGCCACTAACGCGCTCTGGCT	0.612													4	37					0	0	1	0	0	A	58022541	G	A	58022541	2	1	81	1	0	0	0	0	0	0	0	1	1264	1074	38	1		1	B4GALNT1	12	58022541	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	5644	58022541	75829354	9710	13326											
B4GALNT1	2583	broad.mit.edu	37	12	58024986	58024986	+	Missense_Mutation	SNP	G	G	A	rs141063083		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:58024986G>A	ENST00000341156.4	-	3	964	c.380C>T	c.(379-381)tCg>tTg	p.S127L	B4GALNT1_ENST00000550943.1_5'UTR|B4GALNT1_ENST00000418555.2_Intron|B4GALNT1_ENST00000552350.1_Missense_Mutation_p.S127L|B4GALNT1_ENST00000449184.3_Missense_Mutation_p.S127L|B4GALNT1_ENST00000550764.1_Missense_Mutation_p.S127L	NM_001478.3	NP_001469.1	Q00973	B4GN1_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 1	127					lipid glycosylation	integral to Golgi membrane|membrane fraction	(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|urinary_tract(1)	20	Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			CTGGTACCTCGACAGAAAGGC	0.587													13	261					0	0	1	0	0	A	58024986	G	A	58024986	3	1	81	1	0	0	0	0	1	0	0	0	1264	1059	37	1	1257	1	B4GALNT1	12	58024986	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2445	58024986	75826909	9711	13327											
AGAP2	116986	broad.mit.edu	37	12	58126751	58126751	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:58126751C>T	ENST00000257897.3	-	6	638	c.553G>A	c.(553-555)Gct>Act	p.A185T	AGAP2_ENST00000547588.1_Missense_Mutation_p.A521T	NM_014770.3	NP_055585.1	Q99490	AGAP2_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 2	521	Interactions with HOMER1 and NF2 (By similarity).				axon guidance|negative regulation of neuron apoptosis|negative regulation of protein catabolic process|protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	mitochondrion|nucleolus	ARF GTPase activator activity|GTP binding|zinc ion binding			breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|large_intestine(7)|lung(20)|prostate(3)|skin(1)|stomach(1)	48						GGGGAGGAAGCACTGATCCTG	0.552													82	154					0	0	1	0	0	T	58126751	C	T	58126751	3	4	81	1	0	0	0	0	1	0	0	0	367	710	25	2	2073	2	AGAP2	12	58126751	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	101765	58126751	75725144	9712	13328											
AGAP2	116986	broad.mit.edu	37	12	58128172	58128172	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:58128172T>G	ENST00000257897.3	-	4	408	c.323A>C	c.(322-324)aAa>aCa	p.K108T	AGAP2_ENST00000547588.1_Missense_Mutation_p.K444T	NM_014770.3	NP_055585.1	Q99490	AGAP2_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 2	444					axon guidance|negative regulation of neuron apoptosis|negative regulation of protein catabolic process|protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	mitochondrion|nucleolus	ARF GTPase activator activity|GTP binding|zinc ion binding			breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|large_intestine(7)|lung(20)|prostate(3)|skin(1)|stomach(1)	48						CAACATTTCTTTCTTGTACTG	0.542													4	43					0	0	1	0	0	G	58128172	T	G	58128172	3	3	81	1	0	0	0	0	1	0	0	0	367	1841	64	5	2311	5	AGAP2	12	58128172	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	1421	58128172	75723723	9713	13329											
TSPAN31	6302	broad.mit.edu	37	12	58139594	58139594	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:58139594C>A	ENST00000547992.1	+	2	262	c.130C>A	c.(130-132)Cac>Aac	p.H44N	TSPAN31_ENST00000547472.1_Intron|TSPAN31_ENST00000553221.1_3'UTR|TSPAN31_ENST00000257910.3_Missense_Mutation_p.H44N			Q12999	TSN31_HUMAN	tetraspanin 31	44					positive regulation of cell proliferation	integral to plasma membrane|membrane fraction				endometrium(1)|kidney(1)|lung(5)	7	all_cancers(7;4.96e-69)|Lung NSC(6;5.5e-25)|all_lung(6;3.87e-23)|all_epithelial(6;1.66e-15)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294)			GTCCAGCATCCACATCATCGG	0.537													7	111					0.0293803	0.0300537	1	1	0	A	58139594	C	A	58139594	3	1	81	1	0	0	0	0	1	0	0	0	16707	594	21	5	136	5	TSPAN31	12	58139594	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	11422	58139594	75712301	9714	13330											
CDK4	1019	broad.mit.edu	37	12	58145099	58145099	+	Missense_Mutation	SNP	C	C	T	rs3211612		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:58145099C>T	ENST00000257904.6	-	3	610	c.245G>A	c.(244-246)cGa>cAa	p.R82Q	CDK4_ENST00000312990.6_Missense_Mutation_p.R82Q|CDK4_ENST00000549606.1_Intron|CDK4_ENST00000540325.1_Intron|CDK4_ENST00000551888.1_5'UTR	NM_000075.3	NP_000066.1	P11802	CDK4_HUMAN	cyclin-dependent kinase 4	82	Protein kinase.		R -> Q (in dbSNP:rs3211612).		cell division|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|positive regulation of fibroblast proliferation|regulation of gene expression|response to drug|S phase of mitotic cell cycle	cyclin-dependent protein kinase holoenzyme complex|cytosol|membrane	ATP binding|cyclin-dependent protein kinase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)	21	all_cancers(7;4.96e-69)|Lung NSC(6;5.5e-25)|all_lung(6;3.87e-23)|all_epithelial(6;1.66e-15)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294)			CCGGTCAGTTCGGGATGTGGC	0.532			Mis			melanoma			Hereditary Melanoma				37	45					0	0	1	0	0	T	58145099	C	T	58145099	3	4	81	1	0	0	0	0	1	0	0	0	3163	884	31	1	690	1	CDK4	12	58145099	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	5505	58145099	75706796	9715	13331											
CYP27B1	1594	broad.mit.edu	37	12	58160812	58160812	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:58160812G>T	ENST00000228606.4	-	1	222	c.13C>A	c.(13-15)Ctc>Atc	p.L5I		NM_000785.3	NP_000776.1	O15528	CP27B_HUMAN	cytochrome P450, family 27, subfamily B, polypeptide 1	5					bone mineralization|calcium ion homeostasis|calcium ion transport|decidualization|G1 to G0 transition|hormone biosynthetic process|negative regulation of calcidiol 1-monooxygenase activity|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of keratinocyte differentiation|positive regulation of vitamin D 24-hydroxylase activity|positive regulation of vitamin D receptor signaling pathway|regulation of bone mineralization|response to estrogen stimulus|response to interferon-gamma|response to lipopolysaccharide|response to tumor necrosis factor|response to vitamin D|vitamin D biosynthetic process|xenobiotic metabolic process	mitochondrial outer membrane	calcidiol 1-monooxygenase activity|electron carrier activity|heme binding			central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|urinary_tract(1)	15	all_cancers(7;8.09e-80)|Lung NSC(6;2.26e-27)|all_lung(6;1.99e-25)|all_epithelial(6;3.62e-18)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;1.97e-113)|all cancers(5;1.54e-78)|BRCA - Breast invasive adenocarcinoma(9;0.0294)		Calcidiol(DB00146)|Calcitriol(DB00136)|Ergocalciferol(DB00153)	GCGTACTTGAGGGTCTGGGTC	0.592													12	103					1.36491e-13	1.72302e-13	1	1	0	T	58160812	G	T	58160812	3	4	81	1	0	0	0	0	1	0	0	0	4182	1000	35	4	1549	4	CYP27B1	12	58160812	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	15713	58160812	75691083	9716	13332											
AVIL	10677	broad.mit.edu	37	12	58193639	58193639	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:58193639G>A	ENST00000537081.1	-	18	2263	c.2264C>T	c.(2263-2265)gCa>gTa	p.A755V	AVIL_ENST00000257861.3_Missense_Mutation_p.A762V|TSFM_ENST00000548851.1_Intron|TSFM_ENST00000550559.1_Intron|TSFM_ENST00000543727.1_Intron			O75366	AVIL_HUMAN	advillin	762	HP.|Headpiece (By similarity).				actin filament capping|cilium morphogenesis|cytoskeleton organization|positive regulation of neuron projection development	actin cytoskeleton|axon|cytoplasm	actin binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(6)	32	Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)					CAACAGAACTGCTATAGGGTA	0.453													6	139					0	0	1	0	0	A	58193639	G	A	58193639	3	1	81	1	0	0	0	0	1	0	0	0	1225	1319	46	2	182	2	AVIL	12	58193639	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	32827	58193639	75658256	9717	13333											
AVIL	10677	broad.mit.edu	37	12	58201119	58201119	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:58201119A>G	ENST00000537081.1	-	12	1464	c.1465T>C	c.(1465-1467)Ttt>Ctt	p.F489L	TSFM_ENST00000548851.1_Intron|AVIL_ENST00000257861.3_Missense_Mutation_p.F496L			O75366	AVIL_HUMAN	advillin	496	Core (By similarity).				actin filament capping|cilium morphogenesis|cytoskeleton organization|positive regulation of neuron projection development	actin cytoskeleton|axon|cytoplasm	actin binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(6)	32	Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)					CTCACCTCAAAGATAACTAGC	0.517													13	101					0	0	1	0	0	G	58201119	A	G	58201119	3	3	81	1	0	0	0	0	1	0	0	0	1225	72	3	3	1005	3	AVIL	12	58201119	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	7480	58201119	75650776	9718	13334											
AVIL	10677	broad.mit.edu	37	12	58201166	58201166	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:58201166G>A	ENST00000537081.1	-	12	1417	c.1418C>T	c.(1417-1419)aCg>aTg	p.T473M	TSFM_ENST00000548851.1_Intron|AVIL_ENST00000257861.3_Missense_Mutation_p.T480M			O75366	AVIL_HUMAN	advillin	480	Core (By similarity).				actin filament capping|cilium morphogenesis|cytoskeleton organization|positive regulation of neuron projection development	actin cytoskeleton|axon|cytoplasm	actin binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(6)	32	Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)					GCGTGGCTCCGTTCCCATCCT	0.537													34	60					0	0	1	0	0	A	58201166	G	A	58201166	3	1	81	1	0	0	0	0	1	0	0	0	1225	1145	40	1	1052	1	AVIL	12	58201166	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	47	58201166	75650729	9719	13335											
LRIG3	121227	broad.mit.edu	37	12	59276728	59276728	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:59276728A>G	ENST00000320743.3	-	12	1689	c.1403T>C	c.(1402-1404)gTa>gCa	p.V468A	LRIG3_ENST00000379141.4_Missense_Mutation_p.V408A	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	leucine-rich repeats and immunoglobulin-like domains 3	468	LRRCT.					integral to membrane			LRIG3/ROS1(2)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48			GBM - Glioblastoma multiforme(1;1.17e-18)			ACTGGCATTTACAAAGCTCTG	0.453			T	ROS1	NSCLC								6	66					0	0	1	0	0	G	59276728	A	G	59276728	3	3	81	1	0	0	0	0	1	0	0	0	8991	391	14	3	1988	3	LRIG3	12	59276728	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	1075562	59276728	74575167	9720	13336											
LRIG3	121227	broad.mit.edu	37	12	59307811	59307811	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:59307811G>A	ENST00000320743.3	-	3	621	c.335C>T	c.(334-336)aCc>aTc	p.T112I	LRIG3_ENST00000379141.4_Missense_Mutation_p.T52I	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	leucine-rich repeats and immunoglobulin-like domains 3	112						integral to membrane			LRIG3/ROS1(2)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48			GBM - Glioblastoma multiforme(1;1.17e-18)			ATTTGGAATGGTCTCCAATTC	0.363			T	ROS1	NSCLC								29	34					0	0	1	0	0	A	59307811	G	A	59307811	3	1	81	1	0	0	0	0	1	0	0	0	8991	1261	44	2	3092	2	LRIG3	12	59307811	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	31083	59307811	74544084	9721	13337											
FAM19A2	338811	broad.mit.edu	37	12	62147416	62147416	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:62147416A>C	ENST00000416284.3	-	4	1955	c.371T>G	c.(370-372)gTc>gGc	p.V124G	FAM19A2_ENST00000551619.1_Missense_Mutation_p.V124G|FAM19A2_ENST00000551449.1_Intron|FAM19A2_ENST00000550003.1_Missense_Mutation_p.V27G	NM_178539.4	NP_848634.1	Q8N3H0	F19A2_HUMAN	family with sequence similarity 19 (chemokine (C-C motif)-like), member A2	124						cytoplasm				endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)	15			GBM - Glioblastoma multiforme(1;0.00484)	GBM - Glioblastoma multiforme(3;0.02)		AGTTGTTTTGACTTTATTCCC	0.433													25	42					0	0	1	0	0	C	62147416	A	C	62147416	3	2	81	1	0	0	0	0	1	0	0	0	5564	275	10	5	32	5	FAM19A2	12	62147416	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	2839605	62147416	71704479	9722	13338											
USP15	9958	broad.mit.edu	37	12	62688032	62688032	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:62688032G>T	ENST00000280377.5	+	2	220	c.162G>T	c.(160-162)caG>caT	p.Q54H	USP15_ENST00000550632.1_3'UTR|USP15_ENST00000312635.6_Missense_Mutation_p.Q54H|USP15_ENST00000353364.3_Missense_Mutation_p.Q54H|USP15_ENST00000393654.3_Missense_Mutation_p.Q54H	NM_001252078.1	NP_001239007.1	Q9Y4E8	UBP15_HUMAN	ubiquitin specific peptidase 15	54	DUSP.				protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37			GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)		ACAAATACCAGATGGGAGATC	0.358													7	61					0.000274275	0.000297259	1	1	0	T	62688032	G	T	62688032	3	4	81	1	0	0	0	0	1	0	0	0	17106	933	33	4	168	4	USP15	12	62688032	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	540616	62688032	71163863	9723	13339											
USP15	9958	broad.mit.edu	37	12	62749132	62749132	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:62749132G>A	ENST00000280377.5	+	8	849	c.791G>A	c.(790-792)tGt>tAt	p.C264Y	USP15_ENST00000550632.1_3'UTR|USP15_ENST00000353364.3_Missense_Mutation_p.C235Y|USP15_ENST00000393654.3_Missense_Mutation_p.C239Y	NM_001252078.1	NP_001239007.1	Q9Y4E8	UBP15_HUMAN	ubiquitin specific peptidase 15	264					protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37			GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)		TCAAATTACTGTCTTCCATCA	0.333													9	27					0	0	1	0	0	A	62749132	G	A	62749132	3	1	81	1	0	0	0	0	1	0	0	0	17106	1377	48	2	730	2	USP15	12	62749132	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	61100	62749132	71102763	9724	13340											
USP15	9958	broad.mit.edu	37	12	62783719	62783719	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:62783719C>T	ENST00000280377.5	+	14	1853	c.1795C>T	c.(1795-1797)Cga>Tga	p.R599*	USP15_ENST00000353364.3_Nonsense_Mutation_p.R570*|USP15_ENST00000393654.3_Nonsense_Mutation_p.R574*	NM_001252078.1	NP_001239007.1	Q9Y4E8	UBP15_HUMAN	ubiquitin specific peptidase 15	599					protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37			GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)		GGCTGTACCACGAAACAATAC	0.363													16	18					0	0	1	0	0	T	62783719	C	T	62783719	4	4	81	1	0	0	0	0	0	1	0	0	17106	528	19	1	1758	1	USP15	12	62783719	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	34587	62783719	71068176	9725	13341											
USP15	9958	broad.mit.edu	37	12	62786882	62786882	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:62786882T>G	ENST00000280377.5	+	19	2528	c.2470T>G	c.(2470-2472)Tta>Gta	p.L824V	USP15_ENST00000353364.3_Missense_Mutation_p.L795V|USP15_ENST00000393654.3_Missense_Mutation_p.L799V	NM_001252078.1	NP_001239007.1	Q9Y4E8	UBP15_HUMAN	ubiquitin specific peptidase 15	824					protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37			GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)		GAAATTGGATTTATGGTCCCT	0.378													11	77					0	0	1	0	0	G	62786882	T	G	62786882	3	3	81	1	0	0	0	0	1	0	0	0	17106	1838	64	5	2453	5	USP15	12	62786882	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	3163	62786882	71065013	9726	13342											
MON2	23041	broad.mit.edu	37	12	62949858	62949858	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:62949858C>T	ENST00000393630.3	+	26	3689	c.3298C>T	c.(3298-3300)Ctc>Ttc	p.L1100F	MON2_ENST00000546600.1_Missense_Mutation_p.L1099F|MON2_ENST00000393632.2_Missense_Mutation_p.L1099F|MON2_ENST00000552738.1_Missense_Mutation_p.L1076F|MON2_ENST00000280379.6_Missense_Mutation_p.L1100F|MON2_ENST00000393629.2_Missense_Mutation_p.L1099F	NM_001278470.1|NM_001278472.1	NP_001265399.1|NP_001265401.1	Q7Z3U7	MON2_HUMAN	MON2 homolog (S. cerevisiae)	1100					Golgi to endosome transport|protein transport	cytoplasm	ARF guanyl-nucleotide exchange factor activity|binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(15)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	57			BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)		TGGCAATATTCTCATTCATCA	0.418													14	22					0	0	1	0	0	T	62949858	C	T	62949858	3	4	81	1	0	0	0	0	1	0	0	0	9749	913	32	2	3393	2	MON2	12	62949858	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	162976	62949858	70902037	9727	13343											
PPM1H	57460	broad.mit.edu	37	12	63113990	63113990	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:63113990C>T	ENST00000228705.6	-	6	1334	c.1034G>A	c.(1033-1035)gGa>gAa	p.G345E	PPM1H_ENST00000551214.1_5'UTR	NM_020700.1	NP_065751.1	Q9ULR3	PPM1H_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1H	345	PP2C-like.						phosphoprotein phosphatase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)	18			GBM - Glioblastoma multiforme(1;0.000443)|BRCA - Breast invasive adenocarcinoma(9;0.209)	GBM - Glioblastoma multiforme(28;0.0126)		CATCTTCTTTCCAAGCTCCTT	0.453													10	104					0	0	1	0	0	T	63113990	C	T	63113990	3	4	81	1	0	0	0	0	1	0	0	0	12390	855	30	2	530	2	PPM1H	12	63113990	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	164132	63113990	70737905	9728	13344											
TMEM5	10329	broad.mit.edu	37	12	64174847	64174847	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:64174847delA	ENST00000261234.6	+	2	376	c.218delA	c.(217-219)gaafs	p.E73fs	TMEM5_ENST00000537373.1_5'UTR|TMEM5_ENST00000537982.1_3'UTR|RP11-415I12.3_ENST00000509615.2_RNA	NM_014254.1	NP_055069.1	Q9Y2B1	TMEM5_HUMAN	transmembrane protein 5	73						integral to plasma membrane				breast(1)|large_intestine(3)|liver(2)|lung(7)|prostate(1)|skin(1)	15		Myeloproliferative disorder(1001;0.0255)	BRCA - Breast invasive adenocarcinoma(9;0.0985)	GBM - Glioblastoma multiforme(28;9e-08)|BRCA - Breast invasive adenocarcinoma(357;0.000175)		GAAGGAGATGAAAAAAATGAG	0.358													7	68	---	---	---	---						-	64174847	A	-	64174847	7	5	81	1	0	1	0	1	0	0	0	0	16234	246	9	0	224	0	TMEM5	12	64174847	Frame_Shift_Del	DEL	A	TCGA-DU-6392-01A-11D-1705-08	1060857	64174847	69677048	9729	13345											
TMEM5	10329	broad.mit.edu	37	12	64202637	64202637	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:64202637C>T	ENST00000537373.1	+	6	1265	c.317C>T	c.(316-318)tCt>tTt	p.S106F	TMEM5_ENST00000261234.6_Missense_Mutation_p.S366F|TMEM5-AS1_ENST00000546214.1_RNA	NM_001278237.1	NP_001265166.1	Q9Y2B1	TMEM5_HUMAN	transmembrane protein 5	366						integral to plasma membrane				breast(1)|large_intestine(3)|liver(2)|lung(7)|prostate(1)|skin(1)	15		Myeloproliferative disorder(1001;0.0255)	BRCA - Breast invasive adenocarcinoma(9;0.0985)	GBM - Glioblastoma multiforme(28;9e-08)|BRCA - Breast invasive adenocarcinoma(357;0.000175)		GGGAATACATCTGTGCACCAC	0.478													31	51					0	0	1	0	0	T	64202637	C	T	64202637	3	4	81	1	0	0	0	0	1	0	0	0	16234	913	32	2	1119	2	TMEM5	12	64202637	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	27790	64202637	69649258	9730	13346											
SRGAP1	57522	broad.mit.edu	37	12	64502780	64502780	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:64502780C>A	ENST00000355086.3	+	16	2406	c.1882C>A	c.(1882-1884)Ctt>Att	p.L628I	RP11-196H14.4_ENST00000535806.1_RNA|SRGAP1_ENST00000543397.1_Missense_Mutation_p.L565I|SRGAP1_ENST00000357825.3_Missense_Mutation_p.L605I	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	628	Rho-GAP.				axon guidance	cytosol				breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		CAGGTCGGTCCTTATAGTGAT	0.463													6	77					1	1	1	1	0	A	64502780	C	A	64502780	3	1	81	1	0	0	0	0	1	0	0	0	15201	681	24	4	1944	4	SRGAP1	12	64502780	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	300143	64502780	69349115	9731	13347											
C12orf56	115749	broad.mit.edu	37	12	64661006	64661006	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:64661006G>T	ENST00000543942.2	-	13	2452	c.1826C>A	c.(1825-1827)cCt>cAt	p.P609H	C12orf56_ENST00000333722.5_Missense_Mutation_p.P449H|C12orf56_ENST00000536975.1_5'UTR|RPS11P6_ENST00000535684.1_RNA	NM_001170633.1	NP_001164104.1	Q8IXR9	CL056_HUMAN	chromosome 12 open reading frame 56	612										NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)	15			GBM - Glioblastoma multiforme(3;0.000582)	GBM - Glioblastoma multiforme(28;0.0259)		TTGAATGGTAGGTTGAGTGAT	0.333													8	10					1.33987e-11	1.66314e-11	1	1	0	T	64661006	G	T	64661006	3	4	81	1	0	0	0	0	1	0	0	0	1706	1000	35	4	46	4	C12orf56	12	64661006	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	158226	64661006	69190889	9732	13348											
C12orf56	115749	broad.mit.edu	37	12	64664353	64664353	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:64664353C>A	ENST00000543942.2	-	12	2352	c.1726G>T	c.(1726-1728)Gct>Tct	p.A576S	C12orf56_ENST00000333722.5_Missense_Mutation_p.A416S|C12orf56_ENST00000536975.1_5'UTR|RPS11P6_ENST00000535684.1_RNA	NM_001170633.1	NP_001164104.1	Q8IXR9	CL056_HUMAN	chromosome 12 open reading frame 56	579										NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)	15			GBM - Glioblastoma multiforme(3;0.000582)	GBM - Glioblastoma multiforme(28;0.0259)		ATATACTCAGCTAGAGTCCTG	0.403													3	22					0.004672	0.00489345	1	1	0	A	64664353	C	A	64664353	3	1	81	1	0	0	0	0	1	0	0	0	1706	797	28	4	150	4	C12orf56	12	64664353	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3347	64664353	69187542	9733	13349											
C12orf56	115749	broad.mit.edu	37	12	64671501	64671501	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:64671501C>T	ENST00000543942.2	-	9	2019	c.1393G>A	c.(1393-1395)Gtg>Atg	p.V465M	C12orf56_ENST00000333722.5_Missense_Mutation_p.V305M|C12orf56_ENST00000536975.1_5'UTR|RPS11P6_ENST00000535684.1_RNA	NM_001170633.1	NP_001164104.1	Q8IXR9	CL056_HUMAN	chromosome 12 open reading frame 56	468										NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)	15			GBM - Glioblastoma multiforme(3;0.000582)	GBM - Glioblastoma multiforme(28;0.0259)		GAATCAGCCACCAACTGGATA	0.368													8	6					0	0	1	0	0	T	64671501	C	T	64671501	3	4	81	1	0	0	0	0	1	0	0	0	1706	507	18	2	495	2	C12orf56	12	64671501	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	7148	64671501	69180394	9734	13350											
C12orf56	115749	broad.mit.edu	37	12	64746765	64746765	+	Silent	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:64746765A>C	ENST00000543942.2	-	2	950	c.324T>G	c.(322-324)tcT>tcG	p.S108S	C12orf56_ENST00000333722.5_Silent_p.S108S|RPS11P6_ENST00000535684.1_RNA	NM_001170633.1	NP_001164104.1	Q8IXR9	CL056_HUMAN	chromosome 12 open reading frame 56	108										NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)	15			GBM - Glioblastoma multiforme(3;0.000582)	GBM - Glioblastoma multiforme(28;0.0259)		AAACGGTTGAAGAATAGATGA	0.338													5	57					0	0	1	0	0	C	64746765	A	C	64746765	2	2	81	1	0	0	0	0	0	0	0	1	1706	59	3	5		5	C12orf56	12	64746765	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	75264	64746765	69105130	9735	13351											
XPOT	11260	broad.mit.edu	37	12	64825547	64825547	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:64825547G>A	ENST00000332707.5	+	18	2735	c.2206G>A	c.(2206-2208)Gca>Aca	p.A736T		NM_007235.4	NP_009166.2	O43592	XPOT_HUMAN	exportin, tRNA	736	Necessary for tRNA-binding, cytoplasmic localization and nuclear export.				intracellular protein transport|tRNA export from nucleus	cytoplasm|nucleoplasm	protein transporter activity|tRNA binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				GBM - Glioblastoma multiforme(28;0.0404)		AGATTGTGAAGCAAAAGATCT	0.413													42	47					0	0	1	0	0	A	64825547	G	A	64825547	3	1	81	1	0	0	0	0	1	0	0	0	17510	971	34	2	2272	2	XPOT	12	64825547	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	78782	64825547	69026348	9736	13352											
TBK1	29110	broad.mit.edu	37	12	64853996	64853996	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:64853996G>T	ENST00000331710.5	+	3	454	c.115G>T	c.(115-117)Gta>Tta	p.V39L		NM_013254.3	NP_037386.1	Q9UHD2	TBK1_HUMAN	TANK-binding kinase 1	39	Protein kinase.				I-kappaB kinase/NF-kappaB cascade|innate immune response|interspecies interaction between organisms|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of transcription from RNA polymerase II promoter|response to virus|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)	20				GBM - Glioblastoma multiforme(28;0.0386)		TGCTATCAAAGTATTTAATAA	0.264													4	26					0.184627	0.18622	1	1	0	T	64853996	G	T	64853996	3	4	81	1	0	0	0	0	1	0	0	0	15697	1029	36	4	121	4	TBK1	12	64853996	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	28449	64853996	68997899	9737	13353											
RASSF3	283349	broad.mit.edu	37	12	65085294	65085294	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:65085294C>T	ENST00000542104.1	+	4	622	c.502C>T	c.(502-504)Cgt>Tgt	p.R168C	RASSF3_ENST00000336061.2_Missense_Mutation_p.R168C	NM_178169.3	NP_835463.1	Q86WH2	RASF3_HUMAN	Ras association (RalGDS/AF-6) domain family member 3	168	Ras-associating.				signal transduction	cytoplasm|microtubule	identical protein binding			breast(1)|cervix(1)|endometrium(1)|kidney(2)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10			Lung(2;0.00133)|LUAD - Lung adenocarcinoma(6;0.0665)|LUSC - Lung squamous cell carcinoma(43;0.132)	GBM - Glioblastoma multiforme(28;0.0611)		ACTCTACCTGCGTTTGGTAGC	0.443													13	24					0	0	1	0	0	T	65085294	C	T	65085294	3	4	81	1	0	0	0	0	1	0	0	0	13139	768	27	1	516	1	RASSF3	12	65085294	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	231298	65085294	68766601	9738	13354											
LEMD3	23592	broad.mit.edu	37	12	65564502	65564502	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:65564502G>T	ENST00000308330.2	+	1	1152	c.1126G>T	c.(1126-1128)Gac>Tac	p.D376Y	LEMD3_ENST00000541171.1_Intron	NM_001167614.1|NM_014319.4	NP_001161086.1|NP_055134.2	Q9Y2U8	MAN1_HUMAN	LEM domain containing 3	376					negative regulation of activin receptor signaling pathway|negative regulation of BMP signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway	integral to nuclear inner membrane|membrane fraction	DNA binding|nucleotide binding|protein binding			breast(1)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	36			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0104)		TACTGACATGGACTCAACCTT	0.527													15	32					6.72482e-11	8.27642e-11	1	1	0	T	65564502	G	T	65564502	3	4	81	1	0	0	0	0	1	0	0	0	8760	1174	41	5	1128	5	LEMD3	12	65564502	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	479208	65564502	68287393	9739	13355											
LEMD3	23592	broad.mit.edu	37	12	65639941	65639941	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:65639941G>T	ENST00000308330.2	+	13	2598		c.e13-1			NM_001167614.1|NM_014319.4	NP_001161086.1|NP_055134.2	Q9Y2U8	MAN1_HUMAN	LEM domain containing 3						negative regulation of activin receptor signaling pathway|negative regulation of BMP signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway	integral to nuclear inner membrane|membrane fraction	DNA binding|nucleotide binding|protein binding			breast(1)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	36			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0104)		TCTTACAACAGGGAAATTGGT	0.313													8	52					0.000157383	0.000171784	1	1	0	T	65639941	G	T	65639941	5	4	81	1	0	0	0	0	0	0	1	0	8760	1014	35	4	2622	4	LEMD3	12	65639941	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	75439	65639941	68211954	9740	13356											
LLPH	84298	broad.mit.edu	37	12	66522867	66522867	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:66522867C>T	ENST00000266604.2	-	2	90	c.20G>A	c.(19-21)aGt>aAt	p.S7N	TMBIM4_ENST00000539652.1_3'UTR|LLPH_ENST00000446587.2_Missense_Mutation_p.S7N|TMBIM4_ENST00000556010.1_3'UTR	NM_032338.3	NP_115714.1	Q9BRT6	LLPH_HUMAN	LLP homolog, long-term synaptic facilitation (Aplysia)	7	Lys-rich.									central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(1)|skin(1)	5						TTTCCACTTACTCCGTAAGCT	0.348													36	36					0	0	1	0	0	T	66522867	C	T	66522867	3	4	81	1	0	0	0	0	1	0	0	0	8876	565	20	2	377	2	LLPH	12	66522867	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	882926	66522867	67329028	9741	13357											
IRAK3	11213	broad.mit.edu	37	12	66638420	66638420	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:66638420C>T	ENST00000261233.4	+	9	1463	c.1042C>T	c.(1042-1044)Cag>Tag	p.Q348*	IRAK3_ENST00000457197.2_Nonsense_Mutation_p.Q287*	NM_007199.2	NP_009130.2	Q9Y616	IRAK3_HUMAN	interleukin-1 receptor-associated kinase 3	348	Protein kinase.				interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|negative regulation of innate immune response|negative regulation of interleukin-12 production|negative regulation of interleukin-6 production|negative regulation of macrophage cytokine production|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein catabolic process|negative regulation of protein complex disassembly|negative regulation of toll-like receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of macrophage tolerance induction|positive regulation of NF-kappaB transcription factor activity|response to exogenous dsRNA|response to lipopolysaccharide|response to peptidoglycan	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein heterodimerization activity|protein homodimerization activity|protein serine/threonine kinase activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(28;0.0203)		GTACATCAGACAGGGGAAACT	0.428													5	90					0	0	1	0	0	T	66638420	C	T	66638420	4	4	81	1	0	0	0	0	0	1	0	0	7868	479	17	2	1076	2	IRAK3	12	66638420	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	115553	66638420	67213475	9742	13358											
IRAK3	11213	broad.mit.edu	37	12	66641635	66641635	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:66641635C>T	ENST00000261233.4	+	12	1896	c.1475C>T	c.(1474-1476)tCt>tTt	p.S492F	IRAK3_ENST00000457197.2_Missense_Mutation_p.S431F	NM_007199.2	NP_009130.2	Q9Y616	IRAK3_HUMAN	interleukin-1 receptor-associated kinase 3	492					interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|negative regulation of innate immune response|negative regulation of interleukin-12 production|negative regulation of interleukin-6 production|negative regulation of macrophage cytokine production|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein catabolic process|negative regulation of protein complex disassembly|negative regulation of toll-like receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of macrophage tolerance induction|positive regulation of NF-kappaB transcription factor activity|response to exogenous dsRNA|response to lipopolysaccharide|response to peptidoglycan	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein heterodimerization activity|protein homodimerization activity|protein serine/threonine kinase activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(28;0.0203)		TTACTACCTTCTGATGAAGGC	0.428													7	84					0	0	1	0	0	T	66641635	C	T	66641635	3	4	81	1	0	0	0	0	1	0	0	0	7868	913	32	2	1521	2	IRAK3	12	66641635	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3215	66641635	67210260	9743	13359											
IRAK3	11213	broad.mit.edu	37	12	66641677	66641677	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:66641677C>A	ENST00000261233.4	+	12	1938	c.1517C>A	c.(1516-1518)cCt>cAt	p.P506H	IRAK3_ENST00000457197.2_Missense_Mutation_p.P445H	NM_007199.2	NP_009130.2	Q9Y616	IRAK3_HUMAN	interleukin-1 receptor-associated kinase 3	506					interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|negative regulation of innate immune response|negative regulation of interleukin-12 production|negative regulation of interleukin-6 production|negative regulation of macrophage cytokine production|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein catabolic process|negative regulation of protein complex disassembly|negative regulation of toll-like receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of macrophage tolerance induction|positive regulation of NF-kappaB transcription factor activity|response to exogenous dsRNA|response to lipopolysaccharide|response to peptidoglycan	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein heterodimerization activity|protein homodimerization activity|protein serine/threonine kinase activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(28;0.0203)		CAGAAAACTCCTTTTGAATGC	0.418													38	73					1.42033e-22	1.86617e-22	1	1	0	A	66641677	C	A	66641677	3	1	81	1	0	0	0	0	1	0	0	0	7868	681	24	4	1563	4	IRAK3	12	66641677	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	42	66641677	67210218	9744	13360											
IRAK3	11213	broad.mit.edu	37	12	66641935	66641935	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:66641935A>G	ENST00000261233.4	+	12	2196	c.1775A>G	c.(1774-1776)cAg>cGg	p.Q592R	IRAK3_ENST00000457197.2_Missense_Mutation_p.Q531R	NM_007199.2	NP_009130.2	Q9Y616	IRAK3_HUMAN	interleukin-1 receptor-associated kinase 3	592					interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|negative regulation of innate immune response|negative regulation of interleukin-12 production|negative regulation of interleukin-6 production|negative regulation of macrophage cytokine production|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein catabolic process|negative regulation of protein complex disassembly|negative regulation of toll-like receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of macrophage tolerance induction|positive regulation of NF-kappaB transcription factor activity|response to exogenous dsRNA|response to lipopolysaccharide|response to peptidoglycan	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein heterodimerization activity|protein homodimerization activity|protein serine/threonine kinase activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(28;0.0203)		GAATATGAACAGTACAAAAAA	0.418													10	66					0	0	1	0	0	G	66641935	A	G	66641935	3	3	81	1	0	0	0	0	1	0	0	0	7868	188	7	3	1821	3	IRAK3	12	66641935	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	258	66641935	67209960	9745	13361											
HELB	92797	broad.mit.edu	37	12	66703903	66703903	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:66703903G>A	ENST00000247815.4	+	4	1254	c.1195G>A	c.(1195-1197)Gat>Aat	p.D399N		NM_033647.3	NP_387467.2	Q8NG08	HELB_HUMAN	helicase (DNA) B	399					DNA replication, synthesis of RNA primer		ATP binding|ATP-dependent 5'-3' DNA helicase activity|single-stranded DNA-dependent ATP-dependent DNA helicase activity	p.D399Y(1)|p.D399N(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	40			GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)		GAATTCAAGCGATGATGCATT	0.413													74	104					0	0	1	0	0	A	66703903	G	A	66703903	3	1	81	1	0	0	0	0	1	0	0	0	7086	1058	37	1	1209	1	HELB	12	66703903	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	61968	66703903	67147992	9746	13362											
HELB	92797	broad.mit.edu	37	12	66725397	66725397	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:66725397A>G	ENST00000247815.4	+	12	3193	c.3134A>G	c.(3133-3135)gAt>gGt	p.D1045G		NM_033647.3	NP_387467.2	Q8NG08	HELB_HUMAN	helicase (DNA) B	1045					DNA replication, synthesis of RNA primer		ATP binding|ATP-dependent 5'-3' DNA helicase activity|single-stranded DNA-dependent ATP-dependent DNA helicase activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	40			GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)		GGTGTGAATGATGATGAAAGT	0.373													9	87					0	0	1	0	0	G	66725397	A	G	66725397	3	3	81	1	0	0	0	0	1	0	0	0	7086	333	12	3	3180	3	HELB	12	66725397	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	21494	66725397	67126498	9747	13363											
GRIP1	23426	broad.mit.edu	37	12	66859167	66859167	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:66859167C>T	ENST00000359742.4	-	8	1000	c.760G>A	c.(760-762)Gaa>Aaa	p.E254K	GRIP1_ENST00000398016.3_Missense_Mutation_p.E254K|GRIP1_ENST00000286445.7_Missense_Mutation_p.E254K			Q9Y3R0	GRIP1_HUMAN	glutamate receptor interacting protein 1	254	PDZ 3.				androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission	cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane	androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity			NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		TTGGCAACTTCGACTAGTAGT	0.408													24	45					0	0	1	0	0	T	66859167	C	T	66859167	3	4	81	1	0	0	0	0	1	0	0	0	6828	893	31	1	2538	1	GRIP1	12	66859167	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	133770	66859167	66992728	9748	13364											
CAND1	55832	broad.mit.edu	37	12	67675766	67675766	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:67675766G>T	ENST00000545606.1	+	2	582	c.145G>T	c.(145-147)Gta>Tta	p.V49L		NM_018448.3	NP_060918.2	Q86VP6	CAND1_HUMAN	cullin-associated and neddylation-dissociated 1	49					cell differentiation|negative regulation of catalytic activity|protein ubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|ubiquitin ligase complex	protein binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)	35			GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)		TGAAAGGAAAGTAGTGAAAAT	0.313													7	65					1.12685e-05	1.27052e-05	1	1	0	T	67675766	G	T	67675766	3	4	81	1	0	0	0	0	1	0	0	0	2633	1029	36	4	151	4	CAND1	12	67675766	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	816599	67675766	66176129	9749	13365											
CAND1	55832	broad.mit.edu	37	12	67686508	67686508	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:67686508A>G	ENST00000545606.1	+	3	756	c.319A>G	c.(319-321)Agt>Ggt	p.S107G		NM_018448.3	NP_060918.2	Q86VP6	CAND1_HUMAN	cullin-associated and neddylation-dissociated 1	107					cell differentiation|negative regulation of catalytic activity|protein ubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|ubiquitin ligase complex	protein binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)	35			GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)		AGACATTTCAAGTATTGGTCT	0.368													55	82					0	0	1	0	0	G	67686508	A	G	67686508	3	3	81	1	0	0	0	0	1	0	0	0	2633	72	3	3	329	3	CAND1	12	67686508	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	10742	67686508	66165387	9750	13366											
CAND1	55832	broad.mit.edu	37	12	67696122	67696122	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:67696122T>C	ENST00000545606.1	+	8	1457	c.1020T>C	c.(1018-1020)agT>agC	p.S340S		NM_018448.3	NP_060918.2	Q86VP6	CAND1_HUMAN	cullin-associated and neddylation-dissociated 1	340	Asp-rich.				cell differentiation|negative regulation of catalytic activity|protein ubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|ubiquitin ligase complex	protein binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)	35			GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)		ATGAATACAGTGATGATGATG	0.368													61	101					0	0	1	0	0	C	67696122	T	C	67696122	2	2	81	1	0	0	0	0	0	0	0	1	2633	1693	59	3		3	CAND1	12	67696122	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	9614	67696122	66155773	9751	13367											
CAND1	55832	broad.mit.edu	37	12	67703936	67703936	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:67703936delA	ENST00000545606.1	+	13	3637	c.3200delA	c.(3199-3201)gaafs	p.E1067fs		NM_018448.3	NP_060918.2	Q86VP6	CAND1_HUMAN	cullin-associated and neddylation-dissociated 1	1067					cell differentiation|negative regulation of catalytic activity|protein ubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|ubiquitin ligase complex	protein binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)	35			GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)		TAACAGGTAGAAATGGGTCCA	0.358													13	165	---	---	---	---						-	67703936	A	-	67703936	7	5	81	1	0	1	0	1	0	0	0	0	2633	246	9	0	3250	0	CAND1	12	67703936	Frame_Shift_Del	DEL	A	TCGA-DU-6392-01A-11D-1705-08	7814	67703936	66147959	9752	13368											
IL26	55801	broad.mit.edu	37	12	68619372	68619372	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:68619372C>T	ENST00000229134.4	-	1	229	c.165G>A	c.(163-165)acG>acA	p.T55T	IFNG-AS1_ENST00000536914.1_RNA	NM_018402.1	NP_060872.1	Q9NPH9	IL26_HUMAN	interleukin 26	55					cell-cell signaling|negative regulation of epithelial cell proliferation|positive regulation of cytokine secretion|positive regulation of ERK1 and ERK2 cascade|positive regulation of JAK-STAT cascade|positive regulation of protein kinase B signaling cascade|positive regulation of stress-activated MAPK cascade|positive regulation of transcription from RNA polymerase II promoter	cytosol|extracellular space|soluble fraction	cytokine activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	12			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000515)		TTACTGGAATCGTTGCTTTGA	0.408													68	119					0	0	1	0	0	T	68619372	C	T	68619372	2	4	81	1	0	0	0	0	0	0	0	1	7723	871	31	1		1	IL26	12	68619372	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	915436	68619372	65232523	9753	13369											
IL26	55801	broad.mit.edu	37	12	68619407	68619407	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:68619407C>T	ENST00000229134.4	-	1	194	c.130G>A	c.(130-132)Gct>Act	p.A44T	IFNG-AS1_ENST00000536914.1_RNA	NM_018402.1	NP_060872.1	Q9NPH9	IL26_HUMAN	interleukin 26	44					cell-cell signaling|negative regulation of epithelial cell proliferation|positive regulation of cytokine secretion|positive regulation of ERK1 and ERK2 cascade|positive regulation of JAK-STAT cascade|positive regulation of protein kinase B signaling cascade|positive regulation of stress-activated MAPK cascade|positive regulation of transcription from RNA polymerase II promoter	cytosol|extracellular space|soluble fraction	cytokine activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	12			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000515)		ATATAGAGAGCGTCAACAGCT	0.433													74	125					0	0	1	0	0	T	68619407	C	T	68619407	3	4	81	1	0	0	0	0	1	0	0	0	7723	768	27	1	405	1	IL26	12	68619407	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	35	68619407	65232488	9754	13370											
NUP107	57122	broad.mit.edu	37	12	69083346	69083346	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:69083346C>A	ENST00000229179.4	+	3	466	c.134C>A	c.(133-135)aCt>aAt	p.T45N	NUP107_ENST00000539906.1_Missense_Mutation_p.L7I|NUP107_ENST00000378905.2_5'UTR	NM_020401.2	NP_065134.1	P57740	NU107_HUMAN	nucleoporin 107kDa	45					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding		NUP107/LGR5(2)	breast(3)|endometrium(4)|kidney(4)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(2)	39	Breast(13;6.25e-06)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)			TTTGGTAATACTACACCAAGA	0.328													7	80					0.00448238	0.00470627	1	1	0	A	69083346	C	A	69083346	3	1	81	1	0	0	0	0	1	0	0	0	10801	565	20	4	144	4	NUP107	12	69083346	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	463939	69083346	64768549	9755	13371											
NUP107	57122	broad.mit.edu	37	12	69135688	69135688	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:69135688C>T	ENST00000229179.4	+	27	2930	c.2598C>T	c.(2596-2598)caC>caT	p.H866H	NUP107_ENST00000539906.1_Silent_p.H837H|NUP107_ENST00000378905.2_Silent_p.H627H	NM_020401.2	NP_065134.1	P57740	NU107_HUMAN	nucleoporin 107kDa	866					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding		NUP107/LGR5(2)	breast(3)|endometrium(4)|kidney(4)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(2)	39	Breast(13;6.25e-06)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)			CGATATTGCACAGTACTGGTC	0.413													5	116					0	0	1	0	0	T	69135688	C	T	69135688	2	4	81	1	0	0	0	0	0	0	0	1	10801	477	17	2		2	NUP107	12	69135688	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	52342	69135688	64716207	9756	13372											
MDM2	4193	broad.mit.edu	37	12	69210696	69210696	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:69210696C>T	ENST00000462284.1	+	4	581	c.279C>T	c.(277-279)ggC>ggT	p.G93G	MDM2_ENST00000393412.3_Intron|MDM2_ENST00000540827.1_Intron|MDM2_ENST00000258148.7_Silent_p.G93G|MDM2_ENST00000350057.5_Silent_p.G62G|MDM2_ENST00000544561.1_Intron|MDM2_ENST00000348801.2_Intron|MDM2_ENST00000360430.2_Intron|MDM2_ENST00000545204.1_Intron|MDM2_ENST00000299252.4_Intron|MDM2_ENST00000393413.3_Intron|MDM2_ENST00000478070.1_Intron|MDM2_ENST00000517852.1_Intron|MDM2_ENST00000356290.4_Intron|MDM2_ENST00000393410.1_Intron|MDM2_ENST00000428863.2_Intron|MDM2_ENST00000258149.5_Silent_p.G87G	NM_002392.4	NP_002383.2	Q00987	MDM2_HUMAN	MDM2 oncogene, E3 ubiquitin protein ligase	87	Necessary for interaction with USP2.|SWIB.				cellular response to hypoxia|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|establishment of protein localization|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell cycle arrest|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mitotic cell cycle|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein complex assembly|protein destabilization|protein localization to nucleus|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to antibiotic|synaptic transmission	cytosol|endocytic vesicle membrane|insoluble fraction|nucleolus|nucleoplasm|plasma membrane|protein complex	enzyme binding|identical protein binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(8)|prostate(1)|urinary_tract(1)	19	all_cancers(1;8.46e-121)|all_epithelial(5;3.21e-36)|Lung NSC(4;2.16e-33)|all_lung(4;3.03e-31)|Glioma(1;1.9e-09)|Breast(13;1.59e-06)|all_neural(1;1.03e-05)|Melanoma(1;0.0171)|Renal(347;0.0684)		all cancers(2;8.67e-65)|GBM - Glioblastoma multiforme(2;8.89e-62)|BRCA - Breast invasive adenocarcinoma(5;2.43e-08)|Lung(24;1.5e-05)|LUAD - Lung adenocarcinoma(15;8.5e-05)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)			ATTTGTTTGGCGTGCCAAGCT	0.363			A		"sarcoma, glioma, colorectal, other"								16	23					0	0	1	0	0	T	69210696	C	T	69210696	2	4	81	1	0	0	0	0	0	0	0	1	9463	755	27	1		1	MDM2	12	69210696	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	75008	69210696	64641199	9757	13373											
CPSF6	11052	broad.mit.edu	37	12	69650591	69650591	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:69650591C>T	ENST00000435070.2	+	4	599	c.489C>T	c.(487-489)ttC>ttT	p.F163F	CPSF6_ENST00000551516.1_Intron|CPSF6_ENST00000456847.3_Silent_p.F163F|CPSF6_ENST00000266679.8_Silent_p.F163F	NM_007007.2	NP_008938.2	Q16630	CPSF6_HUMAN	cleavage and polyadenylation specific factor 6, 68kDa	163					mRNA polyadenylation|protein tetramerization	mRNA cleavage factor complex|paraspeckles|ribonucleoprotein complex	mRNA binding|nucleotide binding|protein binding			endometrium(1)|large_intestine(7)|lung(8)	16	all_epithelial(5;2.47e-36)|Lung NSC(4;1.1e-32)|all_lung(4;6.26e-31)|Breast(13;1.59e-06)|Esophageal squamous(21;0.187)		Epithelial(6;4.89e-17)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;6.04e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.171)|Kidney(9;0.241)			ATAAACAGTTCCTGAGTCAAT	0.358													26	63					0	0	1	0	0	T	69650591	C	T	69650591	2	4	81	1	0	0	0	0	0	0	0	1	3852	854	30	2		2	CPSF6	12	69650591	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	439895	69650591	64201304	9758	13374											
FRS2	10818	broad.mit.edu	37	12	69964235	69964235	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:69964235G>A	ENST00000299293.2	+	7	701	c.191G>A	c.(190-192)cGc>cAc	p.R64H	FRS2_ENST00000550389.1_Missense_Mutation_p.R64H|FRS2_ENST00000549921.1_Missense_Mutation_p.R64H|FRS2_ENST00000397997.2_Missense_Mutation_p.R64H	NM_001278351.1|NM_006654.3	NP_001265280.1|NP_006645.3	Q8WU20	FRS2_HUMAN	fibroblast growth factor receptor substrate 2	64	IRS-type PTB.				activation of MAPKK activity|activation of phospholipase C activity|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|transmembrane receptor protein tyrosine phosphatase signaling pathway	endomembrane system|endosome|integral to plasma membrane|membrane fraction	fibroblast growth factor receptor binding|insulin receptor binding|phosphatase activator activity|transmembrane receptor protein tyrosine kinase adaptor activity			autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22	Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		Epithelial(6;2.94e-18)|Lung(24;9.68e-05)|OV - Ovarian serous cystadenocarcinoma(12;0.000984)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			TGCCTGCGACGCTATGGCTAT	0.403													27	48					0	0	1	0	0	A	69964235	G	A	69964235	3	1	81	1	0	0	0	0	1	0	0	0	6096	1087	38	1	197	1	FRS2	12	69964235	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	313644	69964235	63887660	9759	13375											
CCT2	10576	broad.mit.edu	37	12	69991024	69991024	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:69991024C>T	ENST00000543146.2	+	11	1412	c.930C>T	c.(928-930)gaC>gaT	p.D310D	CCT2_ENST00000544368.2_Silent_p.D357D|CCT2_ENST00000299300.6_Silent_p.D357D	NM_001198842.1	NP_001185771.1	P78371	TCPB_HUMAN	chaperonin containing TCP1, subunit 2 (beta)	357					'de novo' posttranslational protein folding	nucleus	ATP binding|unfolded protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(1)	24	all_cancers(2;7.7e-106)|Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		Epithelial(6;2.72e-18)|GBM - Glioblastoma multiforme(2;2.58e-10)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			TTGGAGAAGACAAACTCATTC	0.413													63	115					0	0	1	0	0	T	69991024	C	T	69991024	2	4	81	1	0	0	0	0	0	0	0	1	2975	477	17	2		2	CCT2	12	69991024	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	26789	69991024	63860871	9760	13376											
RAB3IP	117177	broad.mit.edu	37	12	70149248	70149248	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:70149248G>A	ENST00000550536.1	+	2	565	c.108G>A	c.(106-108)ccG>ccA	p.P36P	RAB3IP_ENST00000247833.7_Silent_p.P20P|RAB3IP_ENST00000362025.5_Silent_p.P36P|RAB3IP_ENST00000483530.2_Silent_p.P20P|RAB3IP_ENST00000325555.9_5'UTR|RAB3IP_ENST00000378815.6_Silent_p.P20P	NM_001278402.1|NM_175623.2	NP_001265331.1|NP_783322.1	Q96QF0	RAB3I_HUMAN	RAB3A interacting protein	36					cilium assembly|Golgi to plasma membrane transport|protein localization to organelle|protein transport	actin cortical patch|centrosome|cytosol|lamellipodium|microtubule basal body|nucleus	guanyl-nucleotide exchange factor activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22	Esophageal squamous(21;0.187)		Lung(24;0.000381)|OV - Ovarian serous cystadenocarcinoma(12;0.00168)|STAD - Stomach adenocarcinoma(21;0.00694)			CTACTTCTCCGGACCTTCTTG	0.443													27	53					0	0	1	0	0	A	70149248	G	A	70149248	2	1	81	1	0	0	0	0	0	0	0	1	12990	1103	39	1		1	RAB3IP	12	70149248	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	158224	70149248	63702647	9761	13377											
CNOT2	4848	broad.mit.edu	37	12	70724200	70724200	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:70724200A>G	ENST00000229195.3	+	6	1099	c.520A>G	c.(520-522)Ata>Gta	p.I174V	CNOT2_ENST00000548230.1_3'UTR|CNOT2_ENST00000418359.3_Missense_Mutation_p.I174V	NM_014515.5	NP_055330.1	Q9NZN8	CNOT2_HUMAN	CCR4-NOT transcription complex, subunit 2	174					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	protein binding|RNA polymerase II transcription cofactor activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(2)|urinary_tract(1)	20	Renal(347;0.236)		GBM - Glioblastoma multiforme(1;4.77e-09)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118)			GCCAAGCATAATATGTATGCC	0.453													4	122					0	0	1	0	0	G	70724200	A	G	70724200	3	3	81	1	0	0	0	0	1	0	0	0	3642	101	4	3	538	3	CNOT2	12	70724200	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	574952	70724200	63127695	9762	13378											
CNOT2	4848	broad.mit.edu	37	12	70726546	70726546	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:70726546G>T	ENST00000229195.3	+	7	1148		c.e7-1		CNOT2_ENST00000548230.1_Splice_Site|CNOT2_ENST00000418359.3_Splice_Site	NM_014515.5	NP_055330.1	Q9NZN8	CNOT2_HUMAN	CCR4-NOT transcription complex, subunit 2						nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	protein binding|RNA polymerase II transcription cofactor activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(2)|urinary_tract(1)	20	Renal(347;0.236)		GBM - Glioblastoma multiforme(1;4.77e-09)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118)			TATGTACCCAGTATGTCTGGA	0.318													35	65					2.20474e-14	2.79721e-14	1	1	0	T	70726546	G	T	70726546	5	4	81	1	0	0	0	0	0	0	1	0	3642	1043	36	4	591	4	CNOT2	12	70726546	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2346	70726546	63125349	9763	13379											
KCNMB4	27345	broad.mit.edu	37	12	70760564	70760564	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:70760564G>A	ENST00000258111.4	+	1	509	c.50G>A	c.(49-51)aGc>aAc	p.S17N		NM_014505.5	NP_055320.4	Q86W47	KCMB4_HUMAN	potassium large conductance calcium-activated channel, subfamily M, beta member 4	17					detection of calcium ion|platelet activation|regulation of action potential in neuron|regulation of neurotransmitter secretion|regulation of vasoconstriction|synaptic transmission	voltage-gated potassium channel complex	calcium-activated potassium channel activity|protein binding			kidney(1)|large_intestine(4)|lung(5)	10	Renal(347;0.236)		Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118)			GAGGACAAGAGCATCCGGCTC	0.672													9	17					0	0	1	0	0	A	70760564	G	A	70760564	3	1	81	1	0	0	0	0	1	0	0	0	8121	971	34	2	52	2	KCNMB4	12	70760564	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	34018	70760564	63091331	9764	13380											
KCNMB4	27345	broad.mit.edu	37	12	70824314	70824314	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:70824314C>T	ENST00000258111.4	+	3	973	c.514C>T	c.(514-516)Cat>Tat	p.H172Y		NM_014505.5	NP_055320.4	Q86W47	KCMB4_HUMAN	potassium large conductance calcium-activated channel, subfamily M, beta member 4	172					detection of calcium ion|platelet activation|regulation of action potential in neuron|regulation of neurotransmitter secretion|regulation of vasoconstriction|synaptic transmission	voltage-gated potassium channel complex	calcium-activated potassium channel activity|protein binding			kidney(1)|large_intestine(4)|lung(5)	10	Renal(347;0.236)		Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118)			TGTCCTCCTGCATTGCTTCCT	0.517													58	87					0	0	1	0	0	T	70824314	C	T	70824314	3	4	81	1	0	0	0	0	1	0	0	0	8121	710	25	2	524	2	KCNMB4	12	70824314	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	63750	70824314	63027581	9765	13381											
PTPRB	5787	broad.mit.edu	37	12	70938360	70938361	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:70938360_70938361insA	ENST00000334414.6	-	22	5514_5515	c.5470_5471insT	c.(5470-5472)tctfs	p.S1824fs	PTPRB_ENST00000550857.1_Frame_Shift_Ins_p.S1516fs|PTPRB_ENST00000550358.1_Frame_Shift_Ins_p.S1736fs|PTPRB_ENST00000538708.1_Frame_Shift_Ins_p.S1516fs|PTPRB_ENST00000451516.2_Frame_Shift_Ins_p.S1516fs|PTPRB_ENST00000261266.5_Frame_Shift_Ins_p.S1606fs	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1606	Tyrosine-protein phosphatase.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			GATGGGTAAAGAAAAAAATGTG	0.411													11	17	---	---	---	---						A	70938361	-	A	70938360	7	5	81	1	0	1	1	0	0	0	0	0	12848	942	33	0	1228	0	PTPRB	12	70938360	Frame_Shift_Ins	INS	-	TCGA-DU-6392-01A-11D-1705-08	114046	70938360	62913535	9766	13382											
PTPRB	5787	broad.mit.edu	37	12	70981023	70981023	+	Missense_Mutation	SNP	C	C	T	rs3960114		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:70981023C>T	ENST00000334414.6	-	9	2119	c.2075G>A	c.(2074-2076)cGt>cAt	p.R692H	PTPRB_ENST00000538708.1_Missense_Mutation_p.R474H|PTPRB_ENST00000538174.2_5'UTR|PTPRB_ENST00000550857.1_Missense_Mutation_p.R384H|PTPRB_ENST00000451516.2_Missense_Mutation_p.R384H|PTPRB_ENST00000551525.1_Missense_Mutation_p.R691H|PTPRB_ENST00000550358.1_Missense_Mutation_p.R692H|PTPRB_ENST00000261266.5_Missense_Mutation_p.R474H	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	474	Fibronectin type-III 8.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			ATGTTTGACACGAAGCTGGAG	0.463													6	35					0	0	1	0	0	T	70981023	C	T	70981023	3	4	81	1	0	0	0	0	1	0	0	0	12848	536	19	1	4676	1	PTPRB	12	70981023	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	42663	70981023	62870872	9767	13383											
PTPRB	5787	broad.mit.edu	37	12	70989893	70989893	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:70989893A>G	ENST00000334414.6	-	5	1238	c.1194T>C	c.(1192-1194)aaT>aaC	p.N398N	PTPRB_ENST00000538708.1_Silent_p.N180N|PTPRB_ENST00000538174.2_5'UTR|PTPRB_ENST00000550857.1_Silent_p.N180N|PTPRB_ENST00000451516.2_Silent_p.N180N|PTPRB_ENST00000551525.1_Silent_p.N397N|PTPRB_ENST00000550358.1_Silent_p.N398N|PTPRB_ENST00000261266.5_Silent_p.N180N	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	180	Fibronectin type-III 5.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			TGATGGCAATATTGTATTTAC	0.333													10	39					0	0	1	0	0	G	70989893	A	G	70989893	2	3	81	1	0	0	0	0	0	0	0	1	12848	446	16	3		3	PTPRB	12	70989893	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	8870	70989893	62862002	9768	13384											
TSPAN8	7103	broad.mit.edu	37	12	71551452	71551452	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:71551452C>A	ENST00000393330.2	-	5	559	c.7G>T	c.(7-9)Ggt>Tgt	p.G3C	TSPAN8_ENST00000247829.3_Missense_Mutation_p.G3C|TSPAN8_ENST00000546561.1_Missense_Mutation_p.G3C|TSPAN8_ENST00000552786.1_5'UTR			P19075	TSN8_HUMAN	tetraspanin 8	3					protein glycosylation	integral to membrane|lysosome	signal transducer activity			breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(3)|lung(7)|skin(3)|urinary_tract(1)	19			LUSC - Lung squamous cell carcinoma(43;0.24)|OV - Ovarian serous cystadenocarcinoma(12;0.244)			GCACTCACACCTGCCATTTCG	0.393													4	58					0.000602214	0.000646338	1	1	0	A	71551452	C	A	71551452	3	1	81	1	0	0	0	0	1	0	0	0	16714	681	24	4	738	4	TSPAN8	12	71551452	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	561559	71551452	62300443	9769	13385											
LGR5	8549	broad.mit.edu	37	12	71918256	71918256	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:71918256C>T	ENST00000266674.5	+	3	666	c.355C>T	c.(355-357)Ctt>Ttt	p.L119F	LGR5_ENST00000536515.1_Splice_Site_p.L119F|LGR5_ENST00000540815.2_Splice_Site_p.L119F			O75473	LGR5_HUMAN	leucine-rich repeat containing G protein-coupled receptor 5	119						integral to plasma membrane	protein-hormone receptor activity		NUP107/LGR5(2)	endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						TCTTAAAGTTCTGTAAGTAAA	0.393													18	42					0	0	1	0	0	T	71918256	C	T	71918256	5	4	81	1	0	0	0	0	0	0	1	0	8797	927	32	2	365	2	LGR5	12	71918256	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	366804	71918256	61933639	9770	13386											
LGR5	8549	broad.mit.edu	37	12	71977622	71977622	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:71977622C>A	ENST00000266674.5	+	18	2143	c.1832C>A	c.(1831-1833)gCc>gAc	p.A611D	RP11-186F10.2_ENST00000546601.1_RNA|LGR5_ENST00000536515.1_Missense_Mutation_p.A539D|LGR5_ENST00000540815.2_Missense_Mutation_p.A587D			O75473	LGR5_HUMAN	leucine-rich repeat containing G protein-coupled receptor 5	611						integral to plasma membrane	protein-hormone receptor activity		NUP107/LGR5(2)	endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						GTCTCCAGTGCCGTGCTGGCT	0.512													29	44					8.16721e-17	1.05009e-16	1	1	0	A	71977622	C	A	71977622	3	1	81	1	0	0	0	0	1	0	0	0	8797	739	26	5	1902	5	LGR5	12	71977622	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	59366	71977622	61874273	9771	13387											
LGR5	8549	broad.mit.edu	37	12	71978482	71978482	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:71978482C>A	ENST00000266674.5	+	18	3003	c.2692C>A	c.(2692-2694)Ctt>Att	p.L898I	LGR5_ENST00000536515.1_Missense_Mutation_p.L826I|LGR5_ENST00000540815.2_Missense_Mutation_p.L874I			O75473	LGR5_HUMAN	leucine-rich repeat containing G protein-coupled receptor 5	898						integral to plasma membrane	protein-hormone receptor activity		NUP107/LGR5(2)	endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						GAGCTGCCATCTTTCCTCTGT	0.443													33	91					1.47197e-15	1.87951e-15	1	1	0	A	71978482	C	A	71978482	3	1	81	1	0	0	0	0	1	0	0	0	8797	913	32	4	2762	4	LGR5	12	71978482	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	860	71978482	61873413	9772	13388											
ZFC3H1	196441	broad.mit.edu	37	12	72024615	72024615	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:72024615T>C	ENST00000378743.3	-	17	3948	c.3590A>G	c.(3589-3591)gAt>gGt	p.D1197G		NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	1197					RNA processing	intracellular	metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						TTGACAATCATCATCATTACA	0.333													3	58					0	0	1	0	0	C	72024615	T	C	72024615	3	2	81	1	0	0	0	0	1	0	0	0	17691	1435	50	3	2455	3	ZFC3H1	12	72024615	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	46133	72024615	61827280	9773	13389											
ZFC3H1	196441	broad.mit.edu	37	12	72027072	72027072	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:72027072C>T	ENST00000378743.3	-	13	3015	c.2657G>A	c.(2656-2658)aGa>aAa	p.R886K		NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	886					RNA processing	intracellular	metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						CAAAAACATTCTGTTAACATT	0.299													7	12					0	0	1	0	0	T	72027072	C	T	72027072	3	4	81	1	0	0	0	0	1	0	0	0	17691	913	32	2	3404	2	ZFC3H1	12	72027072	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2457	72027072	61824823	9774	13390											
ZFC3H1	196441	broad.mit.edu	37	12	72057179	72057179	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:72057179C>A	ENST00000378743.3	-	1	570	c.212G>T	c.(211-213)gGc>gTc	p.G71V	ZFC3H1_ENST00000548100.1_Missense_Mutation_p.G71V|ZFC3H1_ENST00000552037.1_Missense_Mutation_p.G71V|THAP2_ENST00000308086.2_5'UTR	NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	71	Ser-rich.				RNA processing	intracellular	metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						CGAGGAAGAGCCACCGCCTCC	0.682											OREG0021993	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	34	50					3.11337e-16	3.99083e-16	1	1	0	A	72057179	C	A	72057179	3	1	81	1	0	0	0	0	1	0	0	0	17691	739	26	5	5897	5	ZFC3H1	12	72057179	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	30107	72057179	61794716	9775	13391											
TMEM19	55266	broad.mit.edu	37	12	72092916	72092916	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:72092916C>A	ENST00000549735.1	+	5	1059	c.874C>A	c.(874-876)Ctt>Att	p.L292I	TMEM19_ENST00000266673.5_Intron			Q96HH6	TMM19_HUMAN	transmembrane protein 19	0						integral to membrane				large_intestine(1)|lung(8)	9		Breast(359;0.0889)		GBM - Glioblastoma multiforme(134;0.044)		ATTCTTGCAACTTATTGGTAT	0.363													23	35					3.62473e-10	4.42231e-10	1	1	0	A	72092916	C	A	72092916	3	1	81	1	0	0	0	0	1	0	0	0	16173	580	20	4		4	TMEM19	12	72092916	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	35737	72092916	61758979	9776	13392											
TBC1D15	64786	broad.mit.edu	37	12	72265893	72265893	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:72265893G>T	ENST00000550746.1	+	2	138	c.74G>T	c.(73-75)gGa>gTa	p.G25V	TBC1D15_ENST00000393309.3_5'UTR|TBC1D15_ENST00000485960.2_Missense_Mutation_p.G25V|TBC1D15_ENST00000319106.8_Missense_Mutation_p.G33V	NM_001146213.1|NM_022771.4	NP_001139685.2|NP_073608.4	Q8TC07	TBC15_HUMAN	TBC1 domain family, member 15	25							protein binding|Rab GTPase activator activity			NS(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TCATCTTGTGGAAAGACCAAT	0.274													7	72					0.000157383	0.000171784	1	1	0	T	72265893	G	T	72265893	3	4	81	1	0	0	0	0	1	0	0	0	15661	1174	41	5	204	5	TBC1D15	12	72265893	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	172977	72265893	61586002	9777	13393											
TBC1D15	64786	broad.mit.edu	37	12	72274292	72274292	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:72274292G>A	ENST00000550746.1	+	4	312	c.248G>A	c.(247-249)aGa>aAa	p.R83K	TBC1D15_ENST00000393309.3_5'UTR|TBC1D15_ENST00000485960.2_Missense_Mutation_p.R83K|TBC1D15_ENST00000319106.8_Missense_Mutation_p.R91K	NM_001146213.1|NM_022771.4	NP_001139685.2|NP_073608.4	Q8TC07	TBC15_HUMAN	TBC1 domain family, member 15	83							protein binding|Rab GTPase activator activity			NS(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CCAAAAGAAAGAGGTCATCGA	0.338													15	16					0	0	1	0	0	A	72274292	G	A	72274292	3	1	81	1	0	0	0	0	1	0	0	0	15661	942	33	2	386	2	TBC1D15	12	72274292	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	8399	72274292	61577603	9778	13394											
TBC1D15	64786	broad.mit.edu	37	12	72278787	72278787	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:72278787T>C	ENST00000550746.1	+	5	604	c.540T>C	c.(538-540)taT>taC	p.Y180Y	TBC1D15_ENST00000393309.3_Intron|TBC1D15_ENST00000485960.2_Silent_p.Y180Y|TBC1D15_ENST00000319106.8_Silent_p.Y188Y	NM_001146213.1|NM_022771.4	NP_001139685.2|NP_073608.4	Q8TC07	TBC15_HUMAN	TBC1 domain family, member 15	180							protein binding|Rab GTPase activator activity			NS(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TTGAAAAATATGTGGTATTGT	0.353													5	66					0	0	1	0	0	C	72278787	T	C	72278787	2	2	81	1	0	0	0	0	0	0	0	1	15661	1471	51	3		3	TBC1D15	12	72278787	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	4495	72278787	61573108	9779	13395											
TBC1D15	64786	broad.mit.edu	37	12	72314627	72314627	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:72314627G>T	ENST00000550746.1	+	16	1831	c.1767G>T	c.(1765-1767)aaG>aaT	p.K589N	TBC1D15_ENST00000393309.3_Splice_Site_p.K343N|TBC1D15_ENST00000485960.2_Splice_Site_p.K572N|TBC1D15_ENST00000319106.8_Splice_Site_p.K580N	NM_001146213.1|NM_022771.4	NP_001139685.2|NP_073608.4	Q8TC07	TBC15_HUMAN	TBC1 domain family, member 15	589							protein binding|Rab GTPase activator activity			NS(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						AAATACTTAAGGTAGTTATTC	0.333													7	100					0.0293803	0.0300537	1	1	0	T	72314627	G	T	72314627	5	4	81	1	0	0	0	0	0	0	1	0	15661	1014	35	4	1953	4	TBC1D15	12	72314627	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	35840	72314627	61537268	9780	13396											
TPH2	121278	broad.mit.edu	37	12	72425324	72425324	+	Missense_Mutation	SNP	G	G	A	rs120074175		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:72425324G>A	ENST00000333850.3	+	11	1463	c.1322G>A	c.(1321-1323)cGt>cAt	p.R441H		NM_173353.3	NP_775489.2	Q8IWU9	TPH2_HUMAN	tryptophan hydroxylase 2	441			R -> H (may be due to a rare RNA editing event; functional polymorphism linked with susceptibility to major depressive disorder; 80% loss of function; decreases solubility; decreases thermal stability; reduces catalytic activity).		aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	41					L-Tryptophan(DB00150)	TCAATTACCCGTCCCTTCTCA	0.418													22	28					0	0	1	0	0	A	72425324	G	A	72425324	3	1	81	1	0	0	0	0	1	0	0	0	16463	1145	40	1	1364	1	TPH2	12	72425324	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	110697	72425324	61426571	9781	13397											
TRHDE	29953	broad.mit.edu	37	12	72863578	72863578	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:72863578G>T	ENST00000261180.4	+	4	1317	c.1221G>T	c.(1219-1221)gaG>gaT	p.E407D		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	407	Substrate binding (By similarity).				cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						CTGCTATGGAGAACTGGGGAC	0.373													33	68					3.62531e-18	4.69554e-18	1	1	0	T	72863578	G	T	72863578	3	4	81	1	0	0	0	0	1	0	0	0	16540	933	33	4	1235	4	TRHDE	12	72863578	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	438254	72863578	60988317	9782	13398											
TRHDE	29953	broad.mit.edu	37	12	72863628	72863628	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:72863628G>T	ENST00000261180.4	+	4	1367	c.1271G>T	c.(1270-1272)aGt>aTt	p.S424I		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	424					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						CTGGATCCCAGTGTTTCATCT	0.383													7	69					5.18039e-06	5.88187e-06	1	1	0	T	72863628	G	T	72863628	3	4	81	1	0	0	0	0	1	0	0	0	16540	1029	36	4	1285	4	TRHDE	12	72863628	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	50	72863628	60988267	9783	13399											
TRHDE	29953	broad.mit.edu	37	12	73012803	73012803	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:73012803C>A	ENST00000261180.4	+	13	2415	c.2319C>A	c.(2317-2319)aaC>aaA	p.N773K		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	773					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						GCATGGAAAACTACAACATTT	0.333													14	25					2.23348e-06	2.55658e-06	1	1	0	A	73012803	C	A	73012803	3	1	81	1	0	0	0	0	1	0	0	0	16540	564	20	4	2369	4	TRHDE	12	73012803	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	149175	73012803	60839092	9784	13400											
KCNC2	3747	broad.mit.edu	37	12	75441976	75441976	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:75441976C>T	ENST00000549446.1	-	4	2417	c.1737G>A	c.(1735-1737)acG>acA	p.T579T	KCNC2_ENST00000341669.3_Silent_p.T579T|KCNC2_ENST00000393288.2_Silent_p.T579T|KCNC2_ENST00000550433.1_Silent_p.T579T|KCNC2_ENST00000298972.1_Silent_p.T579T|KCNC2_ENST00000350228.2_Intron|KCNC2_ENST00000540018.1_Intron|KCNC2_ENST00000548513.1_Silent_p.T579T	NM_001260497.1|NM_139137.3	NP_001247426.1|NP_631875.1	Q96PR1	KCNC2_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 2	579					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	54						AATCACCTGTCGTCAGTAGGA	0.468													77	144					0	0	1	0	0	T	75441976	C	T	75441976	2	4	81	1	0	0	0	0	0	0	0	1	8059	871	31	1		1	KCNC2	12	75441976	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2429173	75441976	58409919	9785	13401											
KCNC2	3747	broad.mit.edu	37	12	75445001	75445001	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:75445001C>T	ENST00000549446.1	-	3	1464	c.784G>A	c.(784-786)Gaa>Aaa	p.E262K	KCNC2_ENST00000341669.3_Missense_Mutation_p.E262K|KCNC2_ENST00000393288.2_Missense_Mutation_p.E262K|KCNC2_ENST00000550433.1_Missense_Mutation_p.E262K|KCNC2_ENST00000298972.1_Missense_Mutation_p.E262K|KCNC2_ENST00000350228.2_Missense_Mutation_p.E262K|KCNC2_ENST00000540018.1_Missense_Mutation_p.E262K|KCNC2_ENST00000548513.1_Missense_Mutation_p.E262K	NM_001260497.1|NM_139137.3	NP_001247426.1|NP_631875.1	Q96PR1	KCNC2_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 2	262					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	54						ATGACTGGTTCTGTCTTGTTT	0.368													20	46					0	0	1	0	0	T	75445001	C	T	75445001	3	4	81	1	0	0	0	0	1	0	0	0	8059	922	32	2	1210	2	KCNC2	12	75445001	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3025	75445001	58406894	9786	13402											
GLIPR1	11010	broad.mit.edu	37	12	75875739	75875739	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:75875739C>T	ENST00000266659.3	+	2	501	c.300C>T	c.(298-300)atC>atT	p.I100I		NM_006851.2	NP_006842.2	P48060	GLIP1_HUMAN	GLI pathogenesis-related 1	100					cellular lipid metabolic process	extracellular region|integral to membrane				endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	14						GAGAGAACATCTGGACTGGGT	0.473													35	78					0	0	1	0	0	T	75875739	C	T	75875739	2	4	81	1	0	0	0	0	0	0	0	1	6483	903	32	2		2	GLIPR1	12	75875739	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	430738	75875739	57976156	9787	13403											
KRR1	11103	broad.mit.edu	37	12	75897696	75897696	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:75897696T>A	ENST00000229214.4	-	7	842	c.819A>T	c.(817-819)caA>caT	p.Q273H	KRR1_ENST00000438169.2_Intron	NM_007043.6	NP_008974.5	Q13601	KRR1_HUMAN	KRR1, small subunit (SSU) processome component, homolog (yeast)	273	Lys-rich.				rRNA processing	nucleolus|ribonucleoprotein complex	RNA binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(1)|ovary(1)|pancreas(1)|urinary_tract(1)	11						GACTTTCTGGTTGTGGTGGTG	0.338													8	204					0	0	1	0	0	A	75897696	T	A	75897696	3	1	81	1	0	0	0	0	1	0	0	0	8489	1722	60	5	342	5	KRR1	12	75897696	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	21957	75897696	57954199	9788	13404											
KRR1	11103	broad.mit.edu	37	12	75897758	75897758	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:75897758T>C	ENST00000229214.4	-	7	780	c.757A>G	c.(757-759)Aaa>Gaa	p.K253E	KRR1_ENST00000438169.2_Intron	NM_007043.6	NP_008974.5	Q13601	KRR1_HUMAN	KRR1, small subunit (SSU) processome component, homolog (yeast)	253	Lys-rich.				rRNA processing	nucleolus|ribonucleoprotein complex	RNA binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(1)|ovary(1)|pancreas(1)|urinary_tract(1)	11						TCCTTGCGTTTATTCACATTT	0.353													9	150					0	0	1	0	0	C	75897758	T	C	75897758	3	2	81	1	0	0	0	0	1	0	0	0	8489	1763	61	3	404	3	KRR1	12	75897758	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	62	75897758	57954137	9789	13405											
BBS10	79738	broad.mit.edu	37	12	76740150	76740150	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:76740150G>A	ENST00000393262.3	-	2	1698	c.1615C>T	c.(1615-1617)Cca>Tca	p.P539S		NM_024685.3	NP_078961.3	Q8TAM1	BBS10_HUMAN	Bardet-Biedl syndrome 10	539			P -> L (in dbSNP:rs35676114).		cellular protein metabolic process|nonmotile primary cilium assembly|photoreceptor cell maintenance|response to stimulus|retina homeostasis	cilium	ATP binding			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)	19						TTGAGTAATGGTTCATAATAA	0.358									Bardet-Biedl syndrome				34	81					0	0	1	0	0	A	76740150	G	A	76740150	3	1	81	1	0	0	0	0	1	0	0	0	1334	1261	44	2	560	2	BBS10	12	76740150	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	842392	76740150	57111745	9790	13406											
ZDHHC17	23390	broad.mit.edu	37	12	77220687	77220687	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:77220687G>T	ENST00000426126.2	+	9	1546		c.e9-1		ZDHHC17_ENST00000334822.5_Splice_Site	NM_015336.2	NP_056151.2	Q8IUH5	ZDH17_HUMAN	zinc finger, DHHC-type containing 17						lipoprotein transport|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi-associated vesicle membrane|integral to membrane	magnesium ion transmembrane transporter activity|protein binding|protein-cysteine S-palmitoleyltransferase activity|signal transducer activity|zinc ion binding			breast(2)|endometrium(2)|large_intestine(3)|liver(2)|lung(14)	23						TTTCTATACAGGAATTTCGGC	0.358													20	55					1.64293e-13	2.07283e-13	1	1	0	T	77220687	G	T	77220687	5	4	81	1	0	0	0	0	0	0	1	0	17665	1014	35	4	931	4	ZDHHC17	12	77220687	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	480537	77220687	56631208	9791	13407											
E2F7	144455	broad.mit.edu	37	12	77438524	77438524	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:77438524A>G	ENST00000322886.7	-	6	1116	c.881T>C	c.(880-882)tTt>tCt	p.F294S	E2F7_ENST00000416496.2_Missense_Mutation_p.F294S	NM_203394.2	NP_976328.2	Q96AV8	E2F7_HUMAN	E2F transcription factor 7	294					cell cycle	transcription factor complex	DNA binding|identical protein binding			central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(15)|lung(14)|ovary(3)|upper_aerodigestive_tract(2)	42						CAGCATGACAAACTTCTGGCT	0.398													54	59					0	0	1	0	0	G	77438524	A	G	77438524	3	3	81	1	0	0	0	0	1	0	0	0	4898	14	1	3	1886	3	E2F7	12	77438524	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	217837	77438524	56413371	9792	13408											
NAV3	89795	broad.mit.edu	37	12	78513292	78513292	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:78513292T>C	ENST00000397909.2	+	15	3489	c.3316T>C	c.(3316-3318)Tca>Cca	p.S1106P	NAV3_ENST00000228327.6_Missense_Mutation_p.S1106P|NAV3_ENST00000536525.2_Missense_Mutation_p.S1106P|NAV3_ENST00000266692.7_Missense_Mutation_p.S1106P			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1106	Ser-rich.					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						TGGCGGGAAGTCAAATGCAGG	0.478										HNSCC(70;0.22)			6	45					0	0	1	0	0	C	78513292	T	C	78513292	3	2	81	1	0	0	0	0	1	0	0	0	10233	1667	58	3	3374	3	NAV3	12	78513292	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	1074768	78513292	55338603	9793	13409											
NAV3	89795	broad.mit.edu	37	12	78513689	78513689	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:78513689C>A	ENST00000397909.2	+	15	3886	c.3713C>A	c.(3712-3714)tCc>tAc	p.S1238Y	NAV3_ENST00000228327.6_Missense_Mutation_p.S1238Y|NAV3_ENST00000536525.2_Missense_Mutation_p.S1238Y|NAV3_ENST00000266692.7_Missense_Mutation_p.S1238Y			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1238	Ser-rich.					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						CAGCCAGGATCCAAGTATCCA	0.448										HNSCC(70;0.22)			11	36					3.86212e-05	4.27865e-05	1	1	0	A	78513689	C	A	78513689	3	1	81	1	0	0	0	0	1	0	0	0	10233	855	30	5	3771	5	NAV3	12	78513689	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	397	78513689	55338206	9794	13410											
NAV3	89795	broad.mit.edu	37	12	78516178	78516178	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:78516178C>T	ENST00000397909.2	+	16	4381	c.4208C>T	c.(4207-4209)aCg>aTg	p.T1403M	NAV3_ENST00000228327.6_Missense_Mutation_p.T1403M|NAV3_ENST00000536525.2_Missense_Mutation_p.T1403M|NAV3_ENST00000266692.7_Intron			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1403	Ser-rich.					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	p.T1403M(1)		NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						CTCATGAGAACGGGTAGTGTG	0.552										HNSCC(70;0.22)			14	76					0	0	1	0	0	T	78516178	C	T	78516178	3	4	81	1	0	0	0	0	1	0	0	0	10233	536	19	1	4270	1	NAV3	12	78516178	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2489	78516178	55335717	9795	13411											
NAV3	89795	broad.mit.edu	37	12	78591117	78591117	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:78591117C>A	ENST00000397909.2	+	35	6555	c.6382C>A	c.(6382-6384)Ctt>Att	p.L2128I	NAV3_ENST00000228327.6_Missense_Mutation_p.L2106I|NAV3_ENST00000536525.2_Missense_Mutation_p.L2106I|NAV3_ENST00000266692.7_Missense_Mutation_p.L1929I			Q8IVL0	NAV3_HUMAN	neuron navigator 3	2128						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	p.L2106V(1)		NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						TCTTGATAATCTTCATCATGT	0.333										HNSCC(70;0.22)			17	31					9.16793e-09	1.09544e-08	1	1	0	A	78591117	C	A	78591117	3	1	81	1	0	0	0	0	1	0	0	0	10233	913	32	4	6450	4	NAV3	12	78591117	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	74939	78591117	55260778	9796	13412											
NAV3	89795	broad.mit.edu	37	12	78593207	78593207	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:78593207A>G	ENST00000397909.2	+	37	6784	c.6611A>G	c.(6610-6612)aAc>aGc	p.N2204S	NAV3_ENST00000228327.6_Missense_Mutation_p.N2182S|NAV3_ENST00000541270.1_Missense_Mutation_p.N34S|NAV3_ENST00000536525.2_Missense_Mutation_p.N2182S|NAV3_ENST00000266692.7_Missense_Mutation_p.N2005S			Q8IVL0	NAV3_HUMAN	neuron navigator 3	2204						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						ATTGAAAGGAACATTCGCAAT	0.368										HNSCC(70;0.22)			4	75					0	0	1	0	0	G	78593207	A	G	78593207	3	3	81	1	0	0	0	0	1	0	0	0	10233	43	2	3	6687	3	NAV3	12	78593207	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	2090	78593207	55258688	9797	13413											
PPP1R12A	4659	broad.mit.edu	37	12	80199984	80199984	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:80199984C>A	ENST00000450142.2	-	13	2051	c.1785G>T	c.(1783-1785)aaG>aaT	p.K595N	PPP1R12A_ENST00000550107.1_Intron|AC073569.1_ENST00000598624.1_Intron|PPP1R12A_ENST00000261207.5_Missense_Mutation_p.K595N|PPP1R12A_ENST00000437004.2_Missense_Mutation_p.K595N|PPP1R12A_ENST00000546369.1_Missense_Mutation_p.K508N	NM_002480.2	NP_002471.1	O14974	MYPT1_HUMAN	protein phosphatase 1, regulatory subunit 12A	595	Ser/Thr-rich.					contractile fiber	protein binding|signal transducer activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|liver(1)|lung(4)|ovary(2)|skin(1)	29						CCGTTGTAATCTTTGTAGTAG	0.453													26	243					3.01185e-09	3.62286e-09	1	1	0	A	80199984	C	A	80199984	3	1	81	1	0	0	0	0	1	0	0	0	12403	912	32	4	1359	4	PPP1R12A	12	80199984	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1606777	80199984	53651911	9798	13414											
MYF6	4618	broad.mit.edu	37	12	81101660	81101660	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:81101660C>T	ENST00000228641.3	+	1	384	c.162C>T	c.(160-162)agC>agT	p.S54S		NM_002469.2	NP_002460.1	P23409	MYF6_HUMAN	myogenic factor 6 (herculin)	54					muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|skin(1)	26						AAGCGGGGAGCGACAGCAGCG	0.622													22	31					0	0	1	0	0	T	81101660	C	T	81101660	2	4	81	1	0	0	0	0	0	0	0	1	10076	767	27	1		1	MYF6	12	81101660	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	901676	81101660	52750235	9799	13415											
MYF5	4617	broad.mit.edu	37	12	81110945	81110945	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:81110945C>T	ENST00000228644.3	+	1	255	c.103C>T	c.(103-105)Cga>Tga	p.R35*		NM_005593.2	NP_005584.2	P13349	MYF5_HUMAN	myogenic factor 5	35					muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1)	30						GTTTGTGCCGCGAGTGGCTGC	0.622													4	21					0	0	1	0	0	T	81110945	C	T	81110945	4	4	81	1	0	0	0	0	0	1	0	0	10075	760	27	1	105	1	MYF5	12	81110945	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	9285	81110945	52740950	9800	13416											
MYF5	4617	broad.mit.edu	37	12	81111033	81111033	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:81111033C>T	ENST00000228644.3	+	1	343	c.191C>T	c.(190-192)gCt>gTt	p.A64V		NM_005593.2	NP_005584.2	P13349	MYF5_HUMAN	myogenic factor 5	64					muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1)	30						CACCACCAGGCTGGTCACTGC	0.647													9	14					0	0	1	0	0	T	81111033	C	T	81111033	3	4	81	1	0	0	0	0	1	0	0	0	10075	797	28	2	193	2	MYF5	12	81111033	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	88	81111033	52740862	9801	13417											
ACSS3	79611	broad.mit.edu	37	12	81532987	81532987	+	Silent	SNP	G	G	A	rs11114776	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:81532987G>A	ENST00000548058.1	+	4	1633	c.723G>A	c.(721-723)gcG>gcA	p.A241A	ACSS3_ENST00000261206.3_Silent_p.A240A			Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3	241						mitochondrion	acetate-CoA ligase activity|ATP binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						TAGAAGAAGCGCTAAAAATAG	0.358													23	41					0	0	1	0	0	A	81532987	G	A	81532987	2	1	81	1	0	0	0	0	0	0	0	1	190	1074	38	1		1	ACSS3	12	81532987	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	421954	81532987	52318908	9802	13418											
PPFIA2	8499	broad.mit.edu	37	12	81676815	81676815	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:81676815C>A	ENST00000550584.2	-	25	3287	c.2992G>T	c.(2992-2994)Gaa>Taa	p.E998*	PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000443686.3_Nonsense_Mutation_p.E899*|PPFIA2_ENST00000550359.2_Nonsense_Mutation_p.E845*|PPFIA2_ENST00000549396.1_Nonsense_Mutation_p.E998*|PPFIA2_ENST00000552948.1_Nonsense_Mutation_p.E977*|RP11-121G22.3_ENST00000549161.1_lincRNA|PPFIA2_ENST00000548586.1_Nonsense_Mutation_p.E998*|PPFIA2_ENST00000333447.7_Nonsense_Mutation_p.E983*|PPFIA2_ENST00000407050.4_Nonsense_Mutation_p.E903*|PPFIA2_ENST00000541017.1_Intron|PPFIA2_ENST00000541570.2_Intron|PPFIA2_ENST00000549325.1_Nonsense_Mutation_p.E983*	NM_001220473.1	NP_001207402.1	B7Z663	B7Z663_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	903										NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						TCCTCAGATTCTTTCTGTGTT	0.318													9	16					0.000442599	0.000477972	1	1	0	A	81676815	C	A	81676815	4	1	81	1	0	0	0	0	0	1	0	0	12355	922	32	4	809	4	PPFIA2	12	81676815	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	143828	81676815	52175080	9803	13419											
TMTC2	160335	broad.mit.edu	37	12	83251240	83251240	+	Missense_Mutation	SNP	G	G	A	rs142358970		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:83251240G>A	ENST00000549919.1	+	3	2322	c.517G>A	c.(517-519)Gca>Aca	p.A173T	TMTC2_ENST00000321196.3_Missense_Mutation_p.A179T|TMTC2_ENST00000548305.1_Missense_Mutation_p.A179T			Q8N394	TMTC2_HUMAN	transmembrane and tetratricopeptide repeat containing 2	179						endoplasmic reticulum|integral to membrane	binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1)	39						AGGACTGTGCGCAGGATGCAG	0.473													29	29					0	0	1	0	0	A	83251240	G	A	83251240	3	1	81	1	0	0	0	0	1	0	0	0	16321	1087	38	1	541	1	TMTC2	12	83251240	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1574425	83251240	50600655	9804	13420											
TMTC2	160335	broad.mit.edu	37	12	83290332	83290332	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:83290332G>A	ENST00000549919.1	+	4	3177	c.1372G>A	c.(1372-1374)Gtt>Att	p.V458I	TMTC2_ENST00000321196.3_Missense_Mutation_p.V464I|TMTC2_ENST00000548305.1_Missense_Mutation_p.V464I			Q8N394	TMTC2_HUMAN	transmembrane and tetratricopeptide repeat containing 2	464						endoplasmic reticulum|integral to membrane	binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1)	39						TACACTAATTGTTTTTTATGG	0.408													31	34					0	0	1	0	0	A	83290332	G	A	83290332	3	1	81	1	0	0	0	0	1	0	0	0	16321	1377	48	2	1400	2	TMTC2	12	83290332	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	39092	83290332	50561563	9805	13421											
TMTC2	160335	broad.mit.edu	37	12	83290354	83290354	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:83290354C>T	ENST00000549919.1	+	4	3199	c.1394C>T	c.(1393-1395)gCg>gTg	p.A465V	TMTC2_ENST00000321196.3_Missense_Mutation_p.A471V|TMTC2_ENST00000548305.1_Missense_Mutation_p.A471V			Q8N394	TMTC2_HUMAN	transmembrane and tetratricopeptide repeat containing 2	471						endoplasmic reticulum|integral to membrane	binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1)	39						CTCAAGACTGCGATCAGGAAT	0.388													29	36					0	0	1	0	0	T	83290354	C	T	83290354	3	4	81	1	0	0	0	0	1	0	0	0	16321	768	27	1	1422	1	TMTC2	12	83290354	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	22	83290354	50561541	9806	13422											
TMTC2	160335	broad.mit.edu	37	12	83526157	83526157	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:83526157T>C	ENST00000549919.1	+	13	4287	c.2482T>C	c.(2482-2484)Tct>Cct	p.S828P	TMTC2_ENST00000321196.3_Missense_Mutation_p.S834P			Q8N394	TMTC2_HUMAN	transmembrane and tetratricopeptide repeat containing 2	834						endoplasmic reticulum|integral to membrane	binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1)	39						CTTAAAGACTTCTAAGACCTG	0.498													3	36					0	0	1	0	0	C	83526157	T	C	83526157	3	2	81	1	0	0	0	0	1	0	0	0	16321	1783	62	3	2546	3	TMTC2	12	83526157	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	235803	83526157	50325738	9807	13423											
SLC6A15	55117	broad.mit.edu	37	12	85257248	85257248	+	Silent	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:85257248A>T	ENST00000266682.5	-	11	2329	c.1788T>A	c.(1786-1788)ccT>ccA	p.P596P	SLC6A15_ENST00000552192.1_Silent_p.P489P|SLC6A15_ENST00000309283.7_Silent_p.P304P	NM_182767.5	NP_877499.1	Q9H2J7	S6A15_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 15	596					cellular nitrogen compound metabolic process|leucine transport|proline transport	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			kidney(1)|large_intestine(18)|lung(15)|ovary(1)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	44						TATAGCCAGGAGGACTTAATC	0.308													11	114					0	0	1	0	0	T	85257248	A	T	85257248	2	4	81	1	0	0	0	0	0	0	0	1	14733	291	11	5		5	SLC6A15	12	85257248	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	1731091	85257248	48594647	9808	13424											
TSPAN19	144448	broad.mit.edu	37	12	85413440	85413440	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:85413440T>A	ENST00000532498.2	-	6	495	c.415A>T	c.(415-417)Acc>Tcc	p.T139S	TSPAN19_ENST00000547403.2_5'UTR	NM_001100917.1	NP_001094387.1	P0C672	TSN19_HUMAN	tetraspanin 19	139						integral to membrane				ovary(1)	1						GTCCACTTGGTTATATCTTCA	0.323													22	50					0	0	1	0	0	A	85413440	T	A	85413440	3	1	81	1	0	0	0	0	1	0	0	0	16704	1725	60	5	347	5	TSPAN19	12	85413440	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	156192	85413440	48438455	9809	13425											
LRRIQ1	84125	broad.mit.edu	37	12	85449803	85449803	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:85449803G>T	ENST00000393217.2	+	8	1293	c.1232G>T	c.(1231-1233)aGt>aTt	p.S411I		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	411										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		AAACATTTAAGTCTTGAAGAT	0.318													33	63					9.17885e-22	1.2033e-21	1	1	0	T	85449803	G	T	85449803	3	4	81	1	0	0	0	0	1	0	0	0	9074	1029	36	4	1258	4	LRRIQ1	12	85449803	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	36363	85449803	48402092	9810	13426											
LRRIQ1	84125	broad.mit.edu	37	12	85450485	85450485	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:85450485A>G	ENST00000393217.2	+	8	1975	c.1914A>G	c.(1912-1914)aaA>aaG	p.K638K		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	638										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		TTTATTCAAAATCCAAAGAAA	0.299													19	26					0	0	1	0	0	G	85450485	A	G	85450485	2	3	81	1	0	0	0	0	0	0	0	1	9074	98	4	3		3	LRRIQ1	12	85450485	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	682	85450485	48401410	9811	13427											
LRRIQ1	84125	broad.mit.edu	37	12	85450908	85450908	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:85450908C>A	ENST00000393217.2	+	8	2398	c.2337C>A	c.(2335-2337)ccC>ccA	p.P779P		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	779										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		ACATGACACCCGCTTTGGATA	0.328													58	100					5.5144e-22	7.23489e-22	1	1	0	A	85450908	C	A	85450908	2	1	81	1	0	0	0	0	0	0	0	1	9074	639	23	5		5	LRRIQ1	12	85450908	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	423	85450908	48400987	9812	13428											
LRRIQ1	84125	broad.mit.edu	37	12	85546114	85546114	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:85546114A>G	ENST00000393217.2	+	20	4447	c.4386A>G	c.(4384-4386)acA>acG	p.T1462T		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	1462										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		CTTCACAAACACTGCTTCTTT	0.393													27	58					0	0	1	0	0	G	85546114	A	G	85546114	2	3	81	1	0	0	0	0	0	0	0	1	9074	146	6	3		3	LRRIQ1	12	85546114	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	95206	85546114	48305781	9813	13429											
LRRIQ1	84125	broad.mit.edu	37	12	85638665	85638665	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:85638665C>T	ENST00000393217.2	+	27	5176	c.5115C>T	c.(5113-5115)caC>caT	p.H1705H	LRRIQ1_ENST00000528777.3_3'UTR	NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	1705										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		ATCAGGCACACAGACACTCAG	0.378													25	31					0	0	1	0	0	T	85638665	C	T	85638665	2	4	81	1	0	0	0	0	0	0	0	1	9074	477	17	2		2	LRRIQ1	12	85638665	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	92551	85638665	48213230	9814	13430											
ALX1	8092	broad.mit.edu	37	12	85680716	85680716	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:85680716C>A	ENST00000316824.3	+	3	772	c.617C>A	c.(616-618)aCc>aAc	p.T206N		NM_006982.2	NP_008913.2	Q15699	ALX1_HUMAN	ALX homeobox 1	206					brain development|cartilage condensation|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|ovary(1)	26				GBM - Glioblastoma multiforme(134;0.134)		TTTGCTGCCACCTATGATATA	0.368													5	84					1.23904e-05	1.39156e-05	1	1	0	A	85680716	C	A	85680716	3	1	81	1	0	0	0	0	1	0	0	0	552	507	18	5	627	5	ALX1	12	85680716	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	42051	85680716	48171179	9815	13431											
RASSF9	9182	broad.mit.edu	37	12	86198665	86198665	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:86198665A>G	ENST00000361228.3	-	2	1491	c.1123T>C	c.(1123-1125)Tgc>Cgc	p.C375R		NM_005447.3	NP_005438.2	O75901	RASF9_HUMAN	Ras association (RalGDS/AF-6) domain family (N-terminal) member 9	375					endosome transport|protein targeting|signal transduction	cytosol|endosome|trans-Golgi network transport vesicle membrane	protein binding|transporter activity			endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TTTAACTGGCACCCATCTTTG	0.393													42	121					0	0	1	0	0	G	86198665	A	G	86198665	3	3	81	1	0	0	0	0	1	0	0	0	13145	159	6	3	188	3	RASSF9	12	86198665	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	517949	86198665	47653230	9816	13432											
MGAT4C	25834	broad.mit.edu	37	12	86377346	86377346	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:86377346T>G	ENST00000604798.1	-	7	1454	c.250A>C	c.(250-252)Aat>Cat	p.N84H	MGAT4C_ENST00000548651.1_Missense_Mutation_p.N84H|MGAT4C_ENST00000393205.2_Missense_Mutation_p.N113H|MGAT4C_ENST00000552435.2_Missense_Mutation_p.N84H|MGAT4C_ENST00000332156.1_Missense_Mutation_p.N84H|MGAT4C_ENST00000552808.2_Missense_Mutation_p.N84H|MGAT4C_ENST00000549405.2_Missense_Mutation_p.N84H			Q9UBM8	MGT4C_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative)	84					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						TAGGTGACATTTATGGCTCCT	0.328													11	112					0	0	1	0	0	G	86377346	T	G	86377346	3	3	81	1	0	0	0	0	1	0	0	0	9597	1841	64	5	1194	5	MGAT4C	12	86377346	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	178681	86377346	47474549	9817	13433											
C12orf50	160419	broad.mit.edu	37	12	88379716	88379716	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:88379716G>A	ENST00000298699.2	-	11	1217	c.1037C>T	c.(1036-1038)gCg>gTg	p.A346V	C12orf50_ENST00000550553.1_Missense_Mutation_p.A307V	NM_152589.1	NP_689802.1	Q8NA57	CL050_HUMAN	chromosome 12 open reading frame 50	346										NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|urinary_tract(2)	34						TGCATTCAACGCGACAGTCCT	0.478													10	126					0	0	1	0	0	A	88379716	G	A	88379716	3	1	81	1	0	0	0	0	1	0	0	0	1701	1087	38	1	219	1	C12orf50	12	88379716	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2002370	88379716	45472179	9818	13434											
C12orf50	160419	broad.mit.edu	37	12	88379745	88379745	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:88379745G>A	ENST00000298699.2	-	11	1188	c.1008C>T	c.(1006-1008)caC>caT	p.H336H	C12orf50_ENST00000550553.1_Silent_p.H297H	NM_152589.1	NP_689802.1	Q8NA57	CL050_HUMAN	chromosome 12 open reading frame 50	336										NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|urinary_tract(2)	34						CTCTTTGAACGTGGATATAGG	0.473													9	128					0	0	1	0	0	A	88379745	G	A	88379745	2	1	81	1	0	0	0	0	0	0	0	1	1701	1136	40	1		1	C12orf50	12	88379745	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	29	88379745	45472150	9819	13435											
C12orf29	91298	broad.mit.edu	37	12	88433974	88433974	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:88433974C>T	ENST00000356891.3	+	2	343	c.140C>T	c.(139-141)gCa>gTa	p.A47V	C12orf29_ENST00000548757.2_3'UTR	NM_001009894.2	NP_001009894.2	Q8N999	CL029_HUMAN	chromosome 12 open reading frame 29	47										large_intestine(3)|lung(1)|ovary(1)	5						GCATTAGATGCAGATATATAC	0.313													6	82					0	0	1	0	0	T	88433974	C	T	88433974	3	4	81	1	0	0	0	0	1	0	0	0	1686	710	25	2	146	2	C12orf29	12	88433974	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	54229	88433974	45417921	9820	13436											
CEP290	80184	broad.mit.edu	37	12	88500547	88500547	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:88500547G>A	ENST00000552810.1	-	25	3065	c.2722C>T	c.(2722-2724)Cga>Tga	p.R908*	CEP290_ENST00000309041.7_Nonsense_Mutation_p.R910*|CEP290_ENST00000397838.3_5'UTR	NM_025114.3	NP_079390.3	O15078	CE290_HUMAN	centrosomal protein 290kDa	908					cilium assembly|eye photoreceptor cell development|G2/M transition of mitotic cell cycle|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport	cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium	protein binding			breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						CTAAGTTGTCGCTCCAATTCT	0.308													10	20					0	0	1	0	0	A	88500547	G	A	88500547	4	1	81	1	0	0	0	0	0	1	0	0	3275	1095	38	1	4837	1	CEP290	12	88500547	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	66573	88500547	45351348	9821	13437											
CEP290	80184	broad.mit.edu	37	12	88505575	88505575	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:88505575C>A	ENST00000552810.1	-	21	2456	c.2113G>T	c.(2113-2115)Gtt>Ttt	p.V705F	CEP290_ENST00000309041.7_Missense_Mutation_p.V707F|CEP290_ENST00000397838.3_5'UTR	NM_025114.3	NP_079390.3	O15078	CE290_HUMAN	centrosomal protein 290kDa	705					cilium assembly|eye photoreceptor cell development|G2/M transition of mitotic cell cycle|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport	cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium	protein binding			breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						AGCTGATCAACTTGGGCTTTC	0.358													8	24					0.00307968	0.00324365	1	1	0	A	88505575	C	A	88505575	3	1	81	1	0	0	0	0	1	0	0	0	3275	565	20	4	5462	4	CEP290	12	88505575	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	5028	88505575	45346320	9822	13438											
CEP290	80184	broad.mit.edu	37	12	88514803	88514803	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:88514803C>T	ENST00000552810.1	-	14	1673	c.1330G>A	c.(1330-1332)Gct>Act	p.A444T	CEP290_ENST00000309041.7_Missense_Mutation_p.A444T|CEP290_ENST00000397838.3_5'UTR	NM_025114.3	NP_079390.3	O15078	CE290_HUMAN	centrosomal protein 290kDa	444					cilium assembly|eye photoreceptor cell development|G2/M transition of mitotic cell cycle|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport	cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium	protein binding			breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						CTCTTCAGAGCCTCAACTAAT	0.368													4	32					0	0	1	0	0	T	88514803	C	T	88514803	3	4	81	1	0	0	0	0	1	0	0	0	3275	739	26	2	6273	2	CEP290	12	88514803	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	9228	88514803	45337092	9823	13439											
CEP290	80184	broad.mit.edu	37	12	88514815	88514815	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:88514815C>A	ENST00000552810.1	-	14	1661	c.1318G>T	c.(1318-1320)Gaa>Taa	p.E440*	CEP290_ENST00000309041.7_Nonsense_Mutation_p.E440*|CEP290_ENST00000397838.3_5'UTR	NM_025114.3	NP_079390.3	O15078	CE290_HUMAN	centrosomal protein 290kDa	440					cilium assembly|eye photoreceptor cell development|G2/M transition of mitotic cell cycle|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport	cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium	protein binding			breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						TCAACTAATTCTTTATCCTTT	0.358													13	25					9.31168e-06	1.05369e-05	1	1	0	A	88514815	C	A	88514815	4	1	81	1	0	0	0	0	0	1	0	0	3275	922	32	4	6285	4	CEP290	12	88514815	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	12	88514815	45337080	9824	13440											
KITLG	4254	broad.mit.edu	37	12	88910194	88910194	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:88910194C>A	ENST00000347404.5	-	5	1009	c.437G>T	c.(436-438)aGa>aTa	p.R146I	KITLG_ENST00000378535.4_5'UTR|KITLG_ENST00000357116.4_Intron|KITLG_ENST00000228280.5_Missense_Mutation_p.R146I	NM_003994.5	NP_003985.2	P21583	SCF_HUMAN	KIT ligand	146					cell adhesion|cell proliferation|hemopoiesis|male gonad development|positive regulation of DNA replication|signal transduction	cytoplasm|cytoskeleton|integral to membrane|plasma membrane	growth factor activity|identical protein binding|stem cell factor receptor binding			kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|stomach(1)	9						ATCAATGGATCTATTAAAAAT	0.348									Testicular Cancer, Familial Clustering of				41	71					4.32679e-17	5.57264e-17	1	1	0	A	88910194	C	A	88910194	3	1	81	1	0	0	0	0	1	0	0	0	8373	913	32	4	404	4	KITLG	12	88910194	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	395379	88910194	44941701	9825	13441											
KITLG	4254	broad.mit.edu	37	12	88926274	88926274	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:88926274T>C	ENST00000347404.5	-	3	708	c.136A>G	c.(136-138)Aat>Gat	p.N46D	KITLG_ENST00000378535.4_5'UTR|KITLG_ENST00000357116.4_Intron|KITLG_ENST00000228280.5_Missense_Mutation_p.N46D	NM_003994.5	NP_003985.2	P21583	SCF_HUMAN	KIT ligand	46					cell adhesion|cell proliferation|hemopoiesis|male gonad development|positive regulation of DNA replication|signal transduction	cytoplasm|cytoskeleton|integral to membrane|plasma membrane	growth factor activity|identical protein binding|stem cell factor receptor binding			kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|stomach(1)	9						TTTGGAAGATTTGCCACCTAC	0.328									Testicular Cancer, Familial Clustering of				6	88					0	0	1	0	0	C	88926274	T	C	88926274	3	2	81	1	0	0	0	0	1	0	0	0	8373	1841	64	3	713	3	KITLG	12	88926274	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	16080	88926274	44925621	9826	13442											
POC1B	282809	broad.mit.edu	37	12	89818984	89818984	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:89818984G>T	ENST00000393179.4	-	9	1509	c.896C>A	c.(895-897)aCt>aAt	p.T299N	POC1B_ENST00000313546.3_Missense_Mutation_p.T429N|POC1B_ENST00000541909.1_3'UTR|POC1B_ENST00000378528.2_3'UTR|POC1B_ENST00000549035.1_Missense_Mutation_p.T387N|POC1B_ENST00000546740.1_5'UTR					POC1 centriolar protein B											endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	14						TAAAGCATCAGTCACAGCGAG	0.428													39	60					3.21399e-22	4.2195e-22	1	1	0	T	89818984	G	T	89818984	3	4	81	1	0	0	0	0	1	0	0	0	12224	1029	36	4	158	4	POC1B	12	89818984	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	892710	89818984	44032911	9827	13443											
LUM	4060	broad.mit.edu	37	12	91502238	91502238	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:91502238C>A	ENST00000266718.4	-	2	973	c.519G>T	c.(517-519)gaG>gaT	p.E173D	LUM_ENST00000548071.1_Intron	NM_002345.3	NP_002336.1	P51884	LUM_HUMAN	lumican	173					collagen fibril organization|visual perception	extracellular space|fibrillar collagen	collagen binding|extracellular matrix structural constituent			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24						AAACAGCATCCTCTTTCAGCC	0.453													12	94					0.000978159	0.00104673	1	1	0	A	91502238	C	A	91502238	3	1	81	1	0	0	0	0	1	0	0	0	9130	680	24	4	505	4	LUM	12	91502238	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1683254	91502238	42349657	9828	13444											
CLLU1	574028	broad.mit.edu	37	12	92818761	92818761	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:92818761T>G	ENST00000378485.1	+	1	1027	c.305T>G	c.(304-306)aTt>aGt	p.I102S	CLLU1OS_ENST00000538965.1_Intron|CLLU1OS_ENST00000378487.2_Intron|RP11-693J15.4_ENST00000508671.1_RNA|CLLU1_ENST00000472839.2_Intron	NM_001025233.1	NP_001020404.1			chronic lymphocytic leukemia up-regulated 1											NS(1)|breast(1)|large_intestine(1)|lung(2)|ovary(1)|urinary_tract(1)	7						AAAAAACATATTATTTATTCT	0.313													5	40					0	0	1	0	0	G	92818761	T	G	92818761	3	3	81	1	0	0	0	0	1	0	0	0	3563	1493	52	4	307	4	CLLU1	12	92818761	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	1316523	92818761	41033134	9829	13445											
C12orf74	338809	broad.mit.edu	37	12	93100751	93100751	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:93100751C>T	ENST00000544406.2	+	2	610	c.344C>T	c.(343-345)gCc>gTc	p.A115V	C12orf74_ENST00000397833.3_Missense_Mutation_p.A115V			Q32Q52	CL074_HUMAN	chromosome 12 open reading frame 74	115										kidney(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(2)	10						CCTGAAAGGGCCCTGAATGCA	0.547													23	48					0	0	1	0	0	T	93100751	C	T	93100751	3	4	81	1	0	0	0	0	1	0	0	0	1720	739	26	2	346	2	C12orf74	12	93100751	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	281990	93100751	40751144	9830	13446											
PLEKHG7	440107	broad.mit.edu	37	12	93157910	93157910	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:93157910G>A	ENST00000344636.3	+	10	1058	c.874G>A	c.(874-876)Gat>Aat	p.D292N		NM_001004330.2	NP_001004330.1	Q6ZR37	PKHG7_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 7	292	PH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	p.D292N(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)	17						TACAGTACTCGATCAGCCTAT	0.413													60	93					0	0	1	0	0	A	93157910	G	A	93157910	3	1	81	1	0	0	0	0	1	0	0	0	12123	1058	37	1	908	1	PLEKHG7	12	93157910	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	57159	93157910	40693985	9831	13447											
EEA1	8411	broad.mit.edu	37	12	93169839	93169839	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:93169839G>A	ENST00000322349.8	-	29	4448	c.4184C>T	c.(4183-4185)tCc>tTc	p.S1395F		NM_003566.3	NP_003557	Q15075	EEA1_HUMAN	early endosome antigen 1	1395					early endosome to late endosome transport|synaptic vesicle to endosome fusion|vesicle fusion	cytosol|early endosome membrane|extrinsic to plasma membrane|membrane fraction	1-phosphatidylinositol binding|calmodulin binding|GTP-dependent protein binding|protein homodimerization activity|zinc ion binding			endometrium(5)|kidney(5)|large_intestine(11)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	36						AGGCTTCTTGGAGGAAGGAGT	0.363													20	27					0	0	1	0	0	A	93169839	G	A	93169839	3	1	81	1	0	0	0	0	1	0	0	0	4947	1174	41	2	55	2	EEA1	12	93169839	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	11929	93169839	40682056	9832	13448											
EEA1	8411	broad.mit.edu	37	12	93258692	93258692	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:93258692A>G	ENST00000322349.8	-	3	453	c.189T>C	c.(187-189)gtT>gtC	p.V63V	EEA1_ENST00000547833.1_5'UTR	NM_003566.3	NP_003557	Q15075	EEA1_HUMAN	early endosome antigen 1	63					early endosome to late endosome transport|synaptic vesicle to endosome fusion|vesicle fusion	cytosol|early endosome membrane|extrinsic to plasma membrane|membrane fraction	1-phosphatidylinositol binding|calmodulin binding|GTP-dependent protein binding|protein homodimerization activity|zinc ion binding			endometrium(5)|kidney(5)|large_intestine(11)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	36						CAGCATCATGAACAGCTTCAT	0.373													6	81					0	0	1	0	0	G	93258692	A	G	93258692	2	3	81	1	0	0	0	0	0	0	0	1	4947	233	9	3		3	EEA1	12	93258692	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	88853	93258692	40593203	9833	13449											
PLXNC1	10154	broad.mit.edu	37	12	94645258	94645258	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:94645258G>A	ENST00000258526.4	+	15	3084	c.2835G>A	c.(2833-2835)tgG>tgA	p.W945*		NM_005761.2	NP_005752.1	O60486	PLXC1_HUMAN	plexin C1	945					axon guidance|cell adhesion	integral to membrane|intracellular|plasma membrane	receptor activity|receptor binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						CTTCCACATGGTATTTTCTGA	0.473													16	23					0	0	1	0	0	A	94645258	G	A	94645258	4	1	81	1	0	0	0	0	0	1	0	0	12174	1270	44	2	2893	2	PLXNC1	12	94645258	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1386566	94645258	39206637	9834	13450											
TMCC3	57458	broad.mit.edu	37	12	94976228	94976228	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:94976228C>T	ENST00000261226.4	-	2	296	c.165G>A	c.(163-165)ccG>ccA	p.P55P	TMCC3_ENST00000551457.1_Silent_p.P24P	NM_020698.2	NP_065749	Q9ULS5	TMCC3_HUMAN	transmembrane and coiled-coil domain family 3	55						integral to membrane				NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	29						GGATGCCATCCGGGACATCAA	0.478													45	65					0	0	1	0	0	T	94976228	C	T	94976228	2	4	81	1	0	0	0	0	0	0	0	1	16054	639	23	1		1	TMCC3	12	94976228	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	330970	94976228	38875667	9835	13451											
NR2C1	7181	broad.mit.edu	37	12	95451579	95451580	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:95451579_95451580insT	ENST00000333003.5	-	6	949_950	c.619_620insA	c.(619-621)atcfs	p.I207fs	NR2C1_ENST00000330677.7_Frame_Shift_Ins_p.I207fs|NR2C1_ENST00000393101.3_Frame_Shift_Ins_p.I207fs|NR2C1_ENST00000545833.1_5'UTR	NM_003297.3	NP_003288.2	P13056	NR2C1_HUMAN	nuclear receptor subfamily 2, group C, member 1	207					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	PML body	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)	13						TCGGATATAGATTTTTTCTGTT	0.366													49	87	---	---	---	---						T	95451580	-	T	95451579	7	5	81	1	0	1	1	0	0	0	0	0	10670	333	12	0	1305	0	NR2C1	12	95451579	Frame_Shift_Ins	INS	-	TCGA-DU-6392-01A-11D-1705-08	475351	95451579	38400316	9836	13452											
NR2C1	7181	broad.mit.edu	37	12	95452161	95452161	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:95452161T>C	ENST00000333003.5	-	5	799	c.469A>G	c.(469-471)Att>Gtt	p.I157V	NR2C1_ENST00000545833.1_5'UTR|NR2C1_ENST00000393101.3_Missense_Mutation_p.I157V|NR2C1_ENST00000330677.7_Missense_Mutation_p.I157V	NM_003297.3	NP_003288.2	P13056	NR2C1_HUMAN	nuclear receptor subfamily 2, group C, member 1	157	Required for interaction with KAT2B (By similarity).				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	PML body	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)	13						TGCTTATTAATAATACAATCC	0.358													30	47					0	0	1	0	0	C	95452161	T	C	95452161	3	2	81	1	0	0	0	0	1	0	0	0	10670	1406	49	3	1460	3	NR2C1	12	95452161	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	582	95452161	38399734	9837	13453											
FGD6	55785	broad.mit.edu	37	12	95605029	95605029	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:95605029G>A	ENST00000343958.4	-	2	254	c.31C>T	c.(31-33)Cca>Tca	p.P11S	FGD6_ENST00000549499.1_Missense_Mutation_p.P11S|FGD6_ENST00000546711.1_Missense_Mutation_p.P11S	NM_018351.3	NP_060821.3	Q6ZV73	FGD6_HUMAN	FYVE, RhoGEF and PH domain containing 6	11					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						GGGGCCACTGGTGGCTTCTTT	0.378													24	59					0	0	1	0	0	A	95605029	G	A	95605029	3	1	81	1	0	0	0	0	1	0	0	0	5870	1261	44	2	4341	2	FGD6	12	95605029	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	152868	95605029	38246866	9838	13454											
VEZT	55591	broad.mit.edu	37	12	95650977	95650977	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:95650977T>C	ENST00000436874.1	+	3	325	c.220T>C	c.(220-222)Tct>Cct	p.S74P	VEZT_ENST00000356859.4_3'UTR|VEZT_ENST00000261219.6_Missense_Mutation_p.S26P	NM_017599.3	NP_060069.3	Q9HBM0	VEZA_HUMAN	vezatin, adherens junctions transmembrane protein	74						acrosomal vesicle|adherens junction|integral to membrane|nucleus				endometrium(2)|kidney(3)|large_intestine(1)|lung(14)|ovary(2)|upper_aerodigestive_tract(1)	23						GATTTTTTTTTCTCAGTGCAA	0.343													6	11					0	0	1	0	0	C	95650977	T	C	95650977	3	2	81	1	0	0	0	0	1	0	0	0	17216	1783	62	3	230	3	VEZT	12	95650977	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	45948	95650977	38200918	9839	13455											
VEZT	55591	broad.mit.edu	37	12	95676134	95676134	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:95676134C>T	ENST00000436874.1	+	8	1147	c.1042C>T	c.(1042-1044)Cgg>Tgg	p.R348W	VEZT_ENST00000356859.4_3'UTR|VEZT_ENST00000261219.6_Missense_Mutation_p.R300W	NM_017599.3	NP_060069.3	Q9HBM0	VEZA_HUMAN	vezatin, adherens junctions transmembrane protein	348						acrosomal vesicle|adherens junction|integral to membrane|nucleus				endometrium(2)|kidney(3)|large_intestine(1)|lung(14)|ovary(2)|upper_aerodigestive_tract(1)	23						GTTCTTCAGACGGTTAGCCCT	0.408													15	46					0	0	1	0	0	T	95676134	C	T	95676134	3	4	81	1	0	0	0	0	1	0	0	0	17216	527	19	1	1072	1	VEZT	12	95676134	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	25157	95676134	38175761	9840	13456											
METAP2	10988	broad.mit.edu	37	12	95887833	95887833	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:95887833C>T	ENST00000323666.5	+	5	659	c.430C>T	c.(430-432)Cga>Tga	p.R144*	METAP2_ENST00000551840.1_Splice_Site_p.R143*|METAP2_ENST00000550777.1_Splice_Site_p.R108*|METAP2_ENST00000546753.1_Splice_Site_p.R121*|METAP2_ENST00000261220.9_Splice_Site_p.R121*	NM_006838.3	NP_006829.1	P50579	AMPM2_HUMAN	methionyl aminopeptidase 2	144					N-terminal protein amino acid modification|peptidyl-methionine modification|protein processing|proteolysis	cytoplasm	aminopeptidase activity|metal ion binding|metalloexopeptidase activity			endometrium(3)|large_intestine(2)|lung(7)|prostate(1)	13					L-Methionine(DB00134)	ACTCTAAAGGCGAACAGCTGC	0.373													29	35					0	0	1	0	0	T	95887833	C	T	95887833	5	4	81	1	0	0	0	0	0	0	1	0	9537	782	27	1	448	1	METAP2	12	95887833	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	211699	95887833	37964062	9841	13457											
METAP2	10988	broad.mit.edu	37	12	95905716	95905716	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:95905716G>T	ENST00000323666.5	+	9	1239	c.1010G>T	c.(1009-1011)aGa>aTa	p.R337I	METAP2_ENST00000551840.1_Missense_Mutation_p.R336I|METAP2_ENST00000550777.1_Missense_Mutation_p.R301I|METAP2_ENST00000546753.1_Missense_Mutation_p.R314I|METAP2_ENST00000261220.9_Missense_Mutation_p.R314I	NM_006838.3	NP_006829.1	P50579	AMPM2_HUMAN	methionyl aminopeptidase 2	337					N-terminal protein amino acid modification|peptidyl-methionine modification|protein processing|proteolysis	cytoplasm	aminopeptidase activity|metal ion binding|metalloexopeptidase activity			endometrium(3)|large_intestine(2)|lung(7)|prostate(1)	13					L-Methionine(DB00134)	GGGCAATATAGAATACATGCT	0.363													10	34					3.86212e-05	4.27865e-05	1	1	0	T	95905716	G	T	95905716	3	4	81	1	0	0	0	0	1	0	0	0	9537	942	33	4	1044	4	METAP2	12	95905716	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	17883	95905716	37946179	9842	13458											
METAP2	10988	broad.mit.edu	37	12	95907642	95907642	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:95907642A>G	ENST00000323666.5	+	11	1628	c.1399A>G	c.(1399-1401)Aca>Gca	p.T467A	METAP2_ENST00000551840.1_Missense_Mutation_p.T466A|METAP2_ENST00000550777.1_Missense_Mutation_p.T431A|METAP2_ENST00000546753.1_Missense_Mutation_p.T444A|METAP2_ENST00000261220.9_Missense_Mutation_p.T444A	NM_006838.3	NP_006829.1	P50579	AMPM2_HUMAN	methionyl aminopeptidase 2	467					N-terminal protein amino acid modification|peptidyl-methionine modification|protein processing|proteolysis	cytoplasm	aminopeptidase activity|metal ion binding|metalloexopeptidase activity			endometrium(3)|large_intestine(2)|lung(7)|prostate(1)	13					L-Methionine(DB00134)	GTTGCGTCCAACATGTAAAGA	0.393													8	80					0	0	1	0	0	G	95907642	A	G	95907642	3	3	81	1	0	0	0	0	1	0	0	0	9537	43	2	3	1441	3	METAP2	12	95907642	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	1926	95907642	37944253	9843	13459											
USP44	84101	broad.mit.edu	37	12	95914946	95914946	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:95914946C>T	ENST00000258499.3	-	5	2054	c.1766G>A	c.(1765-1767)gGt>gAt	p.G589D	USP44_ENST00000552440.1_Intron|USP44_ENST00000537435.2_Missense_Mutation_p.G589D|USP44_ENST00000393091.2_Missense_Mutation_p.G589D	NM_001278393.1|NM_032147.2	NP_001265322.1|NP_115523.2	Q9H0E7	UBP44_HUMAN	ubiquitin specific peptidase 44	589					anaphase|cell division|mitosis|negative regulation of mitotic anaphase-promoting complex activity|protein deubiquitination|regulation of spindle checkpoint|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(5)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	36						AACATGAACACCAATCTTCTC	0.428													5	100					0	0	1	0	0	T	95914946	C	T	95914946	3	4	81	1	0	0	0	0	1	0	0	0	17135	507	18	2	380	2	USP44	12	95914946	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	7304	95914946	37936949	9844	13460											
USP44	84101	broad.mit.edu	37	12	95918498	95918498	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:95918498C>T	ENST00000258499.3	-	4	1979	c.1691G>A	c.(1690-1692)tGc>tAc	p.C564Y	USP44_ENST00000552440.1_3'UTR|USP44_ENST00000537435.2_Missense_Mutation_p.C564Y|USP44_ENST00000393091.2_Missense_Mutation_p.C564Y	NM_001278393.1|NM_032147.2	NP_001265322.1|NP_115523.2	Q9H0E7	UBP44_HUMAN	ubiquitin specific peptidase 44	564					anaphase|cell division|mitosis|negative regulation of mitotic anaphase-promoting complex activity|protein deubiquitination|regulation of spindle checkpoint|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(5)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	36						AGGTAGGTGGCATATCATAAG	0.393													23	52					0	0	1	0	0	T	95918498	C	T	95918498	3	4	81	1	0	0	0	0	1	0	0	0	17135	710	25	2	459	2	USP44	12	95918498	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3552	95918498	37933397	9845	13461											
USP44	84101	broad.mit.edu	37	12	95927508	95927508	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:95927508C>T	ENST00000258499.3	-	2	813	c.525G>A	c.(523-525)aaG>aaA	p.K175K	USP44_ENST00000552440.1_Silent_p.K175K|USP44_ENST00000537435.2_Silent_p.K175K|USP44_ENST00000393091.2_Silent_p.K175K	NM_001278393.1|NM_032147.2	NP_001265322.1|NP_115523.2	Q9H0E7	UBP44_HUMAN	ubiquitin specific peptidase 44	175					anaphase|cell division|mitosis|negative regulation of mitotic anaphase-promoting complex activity|protein deubiquitination|regulation of spindle checkpoint|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(5)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	36						GTTCTTCTTGCTTTTTTCTTC	0.363													21	50					0	0	1	0	0	T	95927508	C	T	95927508	2	4	81	1	0	0	0	0	0	0	0	1	17135	796	28	2		2	USP44	12	95927508	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	9010	95927508	37924387	9846	13462											
SNRPF	6636	broad.mit.edu	37	12	96273469	96273469	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:96273469T>C	ENST00000552085.1	+	3	238	c.133T>C	c.(133-135)Ttc>Ctc	p.F45L	SNRPF_ENST00000553192.1_Missense_Mutation_p.F45L|CCDC38_ENST00000344280.3_Silent_p.E365E			P62306	RUXF_HUMAN	small nuclear ribonucleoprotein polypeptide F	45					histone mRNA metabolic process|ncRNA metabolic process|spliceosomal snRNP assembly|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nucleoplasm|U12-type spliceosomal complex|U7 snRNP	protein binding|RNA binding			kidney(1)|lung(1)	2						CTTCAAGATTTTCATCTACAT	0.338													7	141					0	0	1	0	0	C	96273469	T	C	96273469	3	2	81	1	0	0	0	0	1	0	0	0	14922	1838	64	3		3	SNRPF	12	96273469	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	345961	96273469	37578426	9847	13463											
AMDHD1	144193	broad.mit.edu	37	12	96346512	96346512	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:96346512C>A	ENST00000266736.2	+	2	261	c.155C>A	c.(154-156)gCt>gAt	p.A52D		NM_152435.2	NP_689648.2	Q96NU7	HUTI_HUMAN	amidohydrolase domain containing 1	52					histidine catabolic process to glutamate and formamide	cytosol	imidazolonepropionase activity|metal ion binding			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|skin(1)	22						TTTATAAAAGCTATTGGTCCT	0.318													18	51					3.41278e-10	4.16681e-10	1	1	0	A	96346512	C	A	96346512	3	1	81	1	0	0	0	0	1	0	0	0	563	797	28	4	161	4	AMDHD1	12	96346512	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	73043	96346512	37505383	9848	13464											
AMDHD1	144193	broad.mit.edu	37	12	96350567	96350567	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:96350567G>A	ENST00000266736.2	+	4	520	c.414G>A	c.(412-414)ttG>ttA	p.L138L		NM_152435.2	NP_689648.2	Q96NU7	HUTI_HUMAN	amidohydrolase domain containing 1	138					histidine catabolic process to glutamate and formamide	cytosol	imidazolonepropionase activity|metal ion binding			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|skin(1)	22						TCCGCTCCTTGCAGCAACGGC	0.617													7	46					0	0	1	0	0	A	96350567	G	A	96350567	2	1	81	1	0	0	0	0	0	0	0	1	563	1310	46	2		2	AMDHD1	12	96350567	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	4055	96350567	37501328	9849	13465											
AMDHD1	144193	broad.mit.edu	37	12	96359553	96359553	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:96359553C>T	ENST00000266736.2	+	7	1134	c.1028C>T	c.(1027-1029)tCa>tTa	p.S343L		NM_152435.2	NP_689648.2	Q96NU7	HUTI_HUMAN	amidohydrolase domain containing 1	343					histidine catabolic process to glutamate and formamide	cytosol	imidazolonepropionase activity|metal ion binding			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|skin(1)	22						TATTGCTTTTCAATGGTAATT	0.338													6	59					0	0	1	0	0	T	96359553	C	T	96359553	3	4	81	1	0	0	0	0	1	0	0	0	563	838	29	2	1054	2	AMDHD1	12	96359553	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	8986	96359553	37492342	9850	13466											
LTA4H	4048	broad.mit.edu	37	12	96394849	96394849	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:96394849G>A	ENST00000228740.2	-	19	1895	c.1754C>T	c.(1753-1755)gCt>gTt	p.A585V	LTA4H_ENST00000413268.2_3'UTR|RP11-256L6.3_ENST00000551849.1_RNA|LTA4H_ENST00000552789.1_Missense_Mutation_p.A561V	NM_000895.2	NP_000886.1	P09960	LKHA4_HUMAN	leukotriene A4 hydrolase	585					hormone biosynthetic process|inflammatory response|leukotriene biosynthetic process|peptide catabolic process|prostanoid metabolic process|proteolysis	cytosol|nucleus	aminopeptidase activity|epoxide hydrolase activity|leukotriene-A4 hydrolase activity|metallopeptidase activity|protein binding|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|kidney(3)|lung(4)|skin(2)|stomach(1)	12						GGTTCGGACAGCTTGATCATG	0.453													26	70					0	0	1	0	0	A	96394849	G	A	96394849	3	1	81	1	0	0	0	0	1	0	0	0	9114	971	34	2	85	2	LTA4H	12	96394849	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	35296	96394849	37457046	9851	13467											
LTA4H	4048	broad.mit.edu	37	12	96407006	96407006	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:96407006C>T	ENST00000228740.2	-	14	1480	c.1339G>A	c.(1339-1341)Gcc>Acc	p.A447T	LTA4H_ENST00000413268.2_Missense_Mutation_p.A423T|LTA4H_ENST00000548375.1_5'UTR|LTA4H_ENST00000552789.1_Missense_Mutation_p.A423T	NM_000895.2	NP_000886.1	P09960	LKHA4_HUMAN	leukotriene A4 hydrolase	447					hormone biosynthetic process|inflammatory response|leukotriene biosynthetic process|peptide catabolic process|prostanoid metabolic process|proteolysis	cytosol|nucleus	aminopeptidase activity|epoxide hydrolase activity|leukotriene-A4 hydrolase activity|metallopeptidase activity|protein binding|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|kidney(3)|lung(4)|skin(2)|stomach(1)	12						TAGAGCCAGGCATTCCAATCA	0.393													9	52					0	0	1	0	0	T	96407006	C	T	96407006	3	4	81	1	0	0	0	0	1	0	0	0	9114	710	25	2	520	2	LTA4H	12	96407006	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	12157	96407006	37444889	9852	13468											
CDK17	5128	broad.mit.edu	37	12	96691079	96691079	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:96691079C>T	ENST00000261211.3	-	9	1445	c.842G>A	c.(841-843)tGt>tAt	p.C281Y	CDK17_ENST00000553042.1_5'UTR|CDK17_ENST00000542666.1_Missense_Mutation_p.C228Y|CDK17_ENST00000543119.2_Missense_Mutation_p.C281Y	NM_001170464.2|NM_002595.4	NP_001163935.1|NP_002586.2	Q00537	CDK17_HUMAN	cyclin-dependent kinase 17	281	Protein kinase.						ATP binding|cyclin-dependent protein kinase activity			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(11)|ovary(4)|prostate(2)|skin(1)	37						GATGTTTCCACAGTCATCCAT	0.343													4	34					0	0	1	0	0	T	96691079	C	T	96691079	3	4	81	1	0	0	0	0	1	0	0	0	3155	478	17	2	803	2	CDK17	12	96691079	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	284073	96691079	37160816	9853	13469											
NEDD1	121441	broad.mit.edu	37	12	97339521	97339522	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:97339521_97339522insA	ENST00000266742.4	+	14	2044_2045	c.1705_1706insA	c.(1705-1707)gaafs	p.E569fs	NEDD1_ENST00000457368.2_Frame_Shift_Ins_p.E480fs|NEDD1_ENST00000429527.2_Frame_Shift_Ins_p.E569fs|NEDD1_ENST00000557644.1_Frame_Shift_Ins_p.E576fs|NEDD1_ENST00000411739.2_Frame_Shift_Ins_p.E480fs	NM_152905.3	NP_690869.1	Q8NHV4	NEDD1_HUMAN	neural precursor cell expressed, developmentally down-regulated 1	569					cell division|G2/M transition of mitotic cell cycle|mitosis	cytosol				breast(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8)	22						TTCACTCTCAGAAAAAATAGCC	0.376													25	38	---	---	---	---						A	97339522	-	A	97339521	7	5	81	1	0	1	1	0	0	0	0	0	10356	943	33	0	1776	0	NEDD1	12	97339521	Frame_Shift_Ins	INS	-	TCGA-DU-6392-01A-11D-1705-08	648442	97339521	36512374	9854	13470											
SLC25A3	5250	broad.mit.edu	37	12	98989291	98989291	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:98989291C>T	ENST00000228318.3	+	3	358	c.238C>T	c.(238-240)Cat>Tat	p.H80Y	SLC25A3_ENST00000549338.1_Intron|SLC25A3_ENST00000548847.1_Intron|SLC25A3_ENST00000551917.1_Missense_Mutation_p.H80Y|SLC25A3_ENST00000401722.3_Intron|SLC25A3_ENST00000547534.1_Intron|SLC25A3_ENST00000188376.5_Intron|SLC25A3_ENST00000552981.1_Intron	NM_005888.3	NP_005879.1	Q00325	MPCP_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 3	80					generation of precursor metabolites and energy	integral to plasma membrane|mitochondrial inner membrane	phosphate carrier activity|symporter activity			breast(1)|endometrium(2)|large_intestine(4)|lung(8)|prostate(1)	16		Lung NSC(355;4.08e-05)|Breast(359;0.00191)|Colorectal(145;0.00205)|Myeloproliferative disorder(1001;0.0255)		GBM - Glioblastoma multiforme(134;1.36e-23)|BRCA - Breast invasive adenocarcinoma(302;0.000115)		TGGCACAACACATACAGCATT	0.393													44	81					0	0	1	0	0	T	98989291	C	T	98989291	3	4	81	1	0	0	0	0	1	0	0	0	14548	478	17	2	244	2	SLC25A3	12	98989291	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1649770	98989291	34862604	9855	13471											
SLC25A3	5250	broad.mit.edu	37	12	98992475	98992475	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:98992475T>C	ENST00000188376.5	+	4	989	c.635T>C	c.(634-636)cTa>cCa	p.L212P	SLC25A3_ENST00000549338.1_Missense_Mutation_p.L212P|SLC25A3_ENST00000228318.3_Missense_Mutation_p.L213P|SLC25A3_ENST00000548847.1_Missense_Mutation_p.L212P|SLC25A3_ENST00000551917.1_Missense_Mutation_p.L213P|SLC25A3_ENST00000401722.3_Missense_Mutation_p.L212P|SLC25A3_ENST00000552981.1_Missense_Mutation_p.L212P	NM_002635.3|NM_213611.2	NP_002626.1|NP_998776.1	Q00325	MPCP_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 3	213					generation of precursor metabolites and energy	integral to plasma membrane|mitochondrial inner membrane	phosphate carrier activity|symporter activity			breast(1)|endometrium(2)|large_intestine(4)|lung(8)|prostate(1)	16		Lung NSC(355;4.08e-05)|Breast(359;0.00191)|Colorectal(145;0.00205)|Myeloproliferative disorder(1001;0.0255)		GBM - Glioblastoma multiforme(134;1.36e-23)|BRCA - Breast invasive adenocarcinoma(302;0.000115)		GAAGAAGGCCTAAAAGCGTAA	0.338													4	33					0	0	1	0	0	C	98992475	T	C	98992475	3	2	81	1	0	0	0	0	1	0	0	0	14548	1522	53	3	778	3	SLC25A3	12	98992475	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	3184	98992475	34859420	9856	13472											
APAF1	317	broad.mit.edu	37	12	99121056	99121056	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:99121056G>T	ENST00000357310.1	+	25	4010	c.3433G>T	c.(3433-3435)Gat>Tat	p.D1145Y	APAF1_ENST00000547045.1_Missense_Mutation_p.D1145Y|APAF1_ENST00000551964.1_Missense_Mutation_p.D1188Y|APAF1_ENST00000333991.1_Intron|APAF1_ENST00000339433.3_Missense_Mutation_p.D1103Y|APAF1_ENST00000359972.2_Missense_Mutation_p.D1134Y|APAF1_ENST00000550527.1_Missense_Mutation_p.D1177Y|APAF1_ENST00000552268.1_Intron|APAF1_ENST00000549007.1_Missense_Mutation_p.D1103Y	NM_181868.1	NP_863658.1	O14727	APAF_HUMAN	apoptotic peptidase activating factor 1	1188					activation of caspase activity by cytochrome c|defense response|induction of apoptosis by intracellular signals|nervous system development	cytosol|Golgi apparatus|nucleus	ATP binding|caspase activator activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(1)	42					Adenosine triphosphate(DB00171)	CTTTTCTCCAGATGGCAAAAT	0.428													8	87					0.000157383	0.000171784	1	1	0	T	99121056	G	T	99121056	3	4	81	1	0	0	0	0	1	0	0	0	751	942	33	4	3660	4	APAF1	12	99121056	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	128581	99121056	34730839	9857	13473											
UHRF1BP1L	23074	broad.mit.edu	37	12	100433472	100433472	+	Missense_Mutation	SNP	G	G	A	rs142553294	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:100433472G>A	ENST00000279907.7	-	20	4389	c.4177C>T	c.(4177-4179)Cgc>Tgc	p.R1393C	UHRF1BP1L_ENST00000545232.2_Missense_Mutation_p.R1043C	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN	UHRF1 binding protein 1-like	1393										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						GTGACACTGCGTTGTTTCTTC	0.453													17	26					0	0	1	0	0	A	100433472	G	A	100433472	3	1	81	1	0	0	0	0	1	0	0	0	17029	1145	40	1	225	1	UHRF1BP1L	12	100433472	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1312416	100433472	33418423	9858	13474											
UHRF1BP1L	23074	broad.mit.edu	37	12	100452367	100452367	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:100452367A>G	ENST00000279907.7	-	14	2900	c.2688T>C	c.(2686-2688)gaT>gaC	p.D896D	UHRF1BP1L_ENST00000545232.2_Silent_p.D546D	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN	UHRF1 binding protein 1-like	896										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						TAGGCAAATAATCAGGTACCA	0.363													24	36					0	0	1	0	0	G	100452367	A	G	100452367	2	3	81	1	0	0	0	0	0	0	0	1	17029	98	4	3		3	UHRF1BP1L	12	100452367	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	18895	100452367	33399528	9859	13475											
UHRF1BP1L	23074	broad.mit.edu	37	12	100452847	100452847	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:100452847C>T	ENST00000279907.7	-	14	2420	c.2208G>A	c.(2206-2208)gaG>gaA	p.E736E	UHRF1BP1L_ENST00000545232.2_Silent_p.E386E	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN	UHRF1 binding protein 1-like	736										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						CTTTTTGTGACTCTGCATATC	0.408													41	72					0	0	1	0	0	T	100452847	C	T	100452847	2	4	81	1	0	0	0	0	0	0	0	1	17029	564	20	2		2	UHRF1BP1L	12	100452847	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	480	100452847	33399048	9860	13476											
UHRF1BP1L	23074	broad.mit.edu	37	12	100502171	100502171	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:100502171G>A	ENST00000279907.7	-	2	412	c.200C>T	c.(199-201)tCc>tTc	p.S67F	UHRF1BP1L_ENST00000356828.3_Missense_Mutation_p.S67F	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN	UHRF1 binding protein 1-like	67										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						CACCCTAATGGACGCTTTATT	0.353													35	52					0	0	1	0	0	A	100502171	G	A	100502171	3	1	81	1	0	0	0	0	1	0	0	0	17029	1174	41	2	4298	2	UHRF1BP1L	12	100502171	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	49324	100502171	33349724	9861	13477											
SCYL2	55681	broad.mit.edu	37	12	100732859	100732859	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:100732859C>A	ENST00000360820.2	+	18	3136	c.2699C>A	c.(2698-2700)cCt>cAt	p.P900H		NM_017988.4	NP_060458.3	Q6P3W7	SCYL2_HUMAN	SCY1-like 2 (S. cerevisiae)	900	Necessary for interaction with AP2 complex and clathrin, interaction with clathrin is necessary for its targeting to the TGN and endosomal membranes.				endosome to lysosome transport|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of clathrin-mediated endocytosis|positive regulation of receptor internalization	clathrin-coated vesicle|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|protein kinase activity|receptor binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(4)|lung(15)|ovary(2)|skin(1)	41						CAGGGTAATCCTTTCTTTAAC	0.428													58	84					6.3091e-27	8.37025e-27	1	1	0	A	100732859	C	A	100732859	3	1	81	1	0	0	0	0	1	0	0	0	14002	681	24	4	2765	4	SCYL2	12	100732859	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	230688	100732859	33119036	9862	13478											
SLC17A8	246213	broad.mit.edu	37	12	100790181	100790181	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:100790181C>T	ENST00000323346.5	+	5	975	c.662C>T	c.(661-663)aCa>aTa	p.T221I	SLC17A8_ENST00000392989.3_Missense_Mutation_p.T221I	NM_001145288.1|NM_139319.2	NP_001138760.1|NP_647480.1	Q8NDX2	VGLU3_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 8	221					neurotransmitter transport|sensory perception of sound|sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	44						CGACTGGCCACAACCTCTTTT	0.458													16	34					0	0	1	0	0	T	100790181	C	T	100790181	3	4	81	1	0	0	0	0	1	0	0	0	14478	478	17	2	680	2	SLC17A8	12	100790181	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	57322	100790181	33061714	9863	13479											
ANO4	121601	broad.mit.edu	37	12	101333158	101333158	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:101333158G>A	ENST00000392979.3	+	3	482	c.121G>A	c.(121-123)Gat>Aat	p.D41N	ANO4_ENST00000392977.3_Missense_Mutation_p.D76N|ANO4_ENST00000538618.1_Missense_Mutation_p.D242N|ANO4_ENST00000299222.9_5'UTR	NM_178826.3	NP_849148.2	Q32M45	ANO4_HUMAN	anoctamin 4	76						chloride channel complex	chloride channel activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						CAAAGATGACGATTCTCTTCT	0.403										HNSCC(74;0.22)			27	60					0	0	1	0	0	A	101333158	G	A	101333158	3	1	81	1	0	0	0	0	1	0	0	0	693	1058	37	1	127	1	ANO4	12	101333158	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	542977	101333158	32518737	9864	13480											
SLC5A8	160728	broad.mit.edu	37	12	101587498	101587498	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:101587498T>C	ENST00000536262.2	-	5	1155	c.597A>G	c.(595-597)ggA>ggG	p.G199G		NM_145913.3	NP_666018.3	Q8N695	SC5A8_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8	199					apoptosis|sodium ion transport	apical plasma membrane|integral to membrane	monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						CGGATGCAAATCCAGCCACCA	0.393													46	83					0	0	1	0	0	C	101587498	T	C	101587498	2	2	81	1	0	0	0	0	0	0	0	1	14726	1422	50	3		3	SLC5A8	12	101587498	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	254340	101587498	32264397	9865	13481											
SLC5A8	160728	broad.mit.edu	37	12	101588872	101588872	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:101588872C>A	ENST00000536262.2	-	4	1096		c.e4+1			NM_145913.3	NP_666018.3	Q8N695	SC5A8_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8						apoptosis|sodium ion transport	apical plasma membrane|integral to membrane	monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						CCTGGACGTACCAGTGTGCAG	0.428													10	9					0.00829132	0.00865729	1	1	0	A	101588872	C	A	101588872	5	1	81	1	0	0	0	0	0	0	1	0	14726	521	18	5	1342	5	SLC5A8	12	101588872	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1374	101588872	32263023	9866	13482											
SLC5A8	160728	broad.mit.edu	37	12	101598314	101598314	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:101598314A>G	ENST00000536262.2	-	2	939	c.381T>C	c.(379-381)gtT>gtC	p.V127V		NM_145913.3	NP_666018.3	Q8N695	SC5A8_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8	127					apoptosis|sodium ion transport	apical plasma membrane|integral to membrane	monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						CACAGAGACGAACACATTTGT	0.333													6	50					0	0	1	0	0	G	101598314	A	G	101598314	2	3	81	1	0	0	0	0	0	0	0	1	14726	233	9	3		3	SLC5A8	12	101598314	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	9442	101598314	32253581	9867	13483											
SLC5A8	160728	broad.mit.edu	37	12	101603623	101603623	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:101603623C>A	ENST00000536262.2	-	1	562	c.4G>T	c.(4-6)Gac>Tac	p.D2Y		NM_145913.3	NP_666018.3	Q8N695	SC5A8_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8	2					apoptosis|sodium ion transport	apical plasma membrane|integral to membrane	monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						CGTGGCGTGTCCATGGCCGCA	0.706													4	6					0.014758	0.0152304	1	1	0	A	101603623	C	A	101603623	3	1	81	1	0	0	0	0	1	0	0	0	14726	855	30	5	1888	5	SLC5A8	12	101603623	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	5309	101603623	32248272	9868	13484											
UTP20	27340	broad.mit.edu	37	12	101702006	101702006	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:101702006G>A	ENST00000261637.4	+	18	2213	c.2039G>A	c.(2038-2040)cGc>cAc	p.R680H		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	680					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						GCTATATTACGCCAGGCAGAA	0.418													28	37					0	0	1	0	0	A	101702006	G	A	101702006	3	1	81	1	0	0	0	0	1	0	0	0	17159	1087	38	1	2109	1	UTP20	12	101702006	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	98383	101702006	32149889	9869	13485											
UTP20	27340	broad.mit.edu	37	12	101720944	101720944	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:101720944C>T	ENST00000261637.4	+	26	3301	c.3127C>T	c.(3127-3129)Cgg>Tgg	p.R1043W		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	1043					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						CATTGTCCTGCGGTTCCTGGC	0.478													40	53					0	0	1	0	0	T	101720944	C	T	101720944	3	4	81	1	0	0	0	0	1	0	0	0	17159	759	27	1	3229	1	UTP20	12	101720944	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	18938	101720944	32130951	9870	13486											
UTP20	27340	broad.mit.edu	37	12	101757465	101757465	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:101757465C>A	ENST00000261637.4	+	45	6076	c.5902C>A	c.(5902-5904)Ctc>Atc	p.L1968I		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	1968					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						TTATGAAATCCTCGGCAAGTT	0.403													8	46					0.000157383	0.000171784	1	1	0	A	101757465	C	A	101757465	3	1	81	1	0	0	0	0	1	0	0	0	17159	681	24	4	6080	4	UTP20	12	101757465	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	36521	101757465	32094430	9871	13487											
UTP20	27340	broad.mit.edu	37	12	101769479	101769479	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:101769479G>T	ENST00000261637.4	+	56	7515	c.7341G>T	c.(7339-7341)aaG>aaT	p.K2447N		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	2447					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						AACTTATCAAGGAATGTAATA	0.313													15	27					4.93089e-13	6.20298e-13	1	1	0	T	101769479	G	T	101769479	3	4	81	1	0	0	0	0	1	0	0	0	17159	991	35	4	7563	4	UTP20	12	101769479	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	12014	101769479	32082416	9872	13488											
MYBPC1	4604	broad.mit.edu	37	12	102020663	102020663	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:102020663C>A	ENST00000549145.1	+	4	217	c.117C>A	c.(115-117)gtC>gtA	p.V39V	MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000536007.1_Intron|MYBPC1_ENST00000361466.2_Silent_p.V39V|MYBPC1_ENST00000551300.1_5'UTR|MYBPC1_ENST00000547509.1_Intron|MYBPC1_ENST00000541119.1_Intron|MYBPC1_ENST00000545503.2_Intron|MYBPC1_ENST00000441232.1_Intron|MYBPC1_ENST00000547405.1_Intron|MYBPC1_ENST00000550270.1_Intron|MYBPC1_ENST00000361685.2_Silent_p.V39V|MYBPC1_ENST00000360610.2_Intron|MYBPC1_ENST00000553190.1_Intron|MYBPC1_ENST00000452455.2_Intron|MYBPC1_ENST00000392934.3_Silent_p.V13V			Q00872	MYPC1_HUMAN	myosin binding protein C, slow type	35					cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						AAGAGGAAGTCTCCCCGCCTA	0.398													25	52					4.72057e-08	5.5797e-08	1	1	0	A	102020663	C	A	102020663	2	1	81	1	0	0	0	0	0	0	0	1	10059	900	32	4		4	MYBPC1	12	102020663	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	251184	102020663	31831232	9873	13489											
MYBPC1	4604	broad.mit.edu	37	12	102036200	102036200	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:102036200G>T	ENST00000549145.1	+	10	733	c.633G>T	c.(631-633)gaG>gaT	p.E211D	MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000536007.1_Missense_Mutation_p.E179D|MYBPC1_ENST00000361466.2_Missense_Mutation_p.E223D|MYBPC1_ENST00000551300.1_Missense_Mutation_p.E99D|MYBPC1_ENST00000547509.1_Missense_Mutation_p.E184D|MYBPC1_ENST00000541119.1_Missense_Mutation_p.E186D|MYBPC1_ENST00000545503.2_Missense_Mutation_p.E198D|MYBPC1_ENST00000441232.1_Missense_Mutation_p.E198D|MYBPC1_ENST00000547405.1_Missense_Mutation_p.E172D|MYBPC1_ENST00000550270.1_Missense_Mutation_p.E198D|MYBPC1_ENST00000361685.2_Missense_Mutation_p.E223D|MYBPC1_ENST00000360610.2_Missense_Mutation_p.E198D|MYBPC1_ENST00000553190.1_Missense_Mutation_p.E198D|MYBPC1_ENST00000452455.2_Missense_Mutation_p.E198D|MYBPC1_ENST00000392934.3_Missense_Mutation_p.E185D			Q00872	MYPC1_HUMAN	myosin binding protein C, slow type	198					cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						CGGTTAGGGAGGTGAAGCAGC	0.498													8	22					0.00621372	0.00649472	1	1	0	T	102036200	G	T	102036200	3	4	81	1	0	0	0	0	1	0	0	0	10059	991	35	4	711	4	MYBPC1	12	102036200	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	15537	102036200	31815695	9874	13490											
MYBPC1	4604	broad.mit.edu	37	12	102041871	102041871	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:102041871G>A	ENST00000549145.1	+	13	1203	c.1103G>A	c.(1102-1104)tGt>tAt	p.C368Y	MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000536007.1_Missense_Mutation_p.C336Y|MYBPC1_ENST00000361466.2_Missense_Mutation_p.C380Y|MYBPC1_ENST00000551300.1_Missense_Mutation_p.C256Y|MYBPC1_ENST00000547509.1_Missense_Mutation_p.C341Y|MYBPC1_ENST00000541119.1_Missense_Mutation_p.C343Y|MYBPC1_ENST00000545503.2_Missense_Mutation_p.C355Y|MYBPC1_ENST00000441232.1_Missense_Mutation_p.C355Y|MYBPC1_ENST00000547405.1_Missense_Mutation_p.C329Y|MYBPC1_ENST00000550270.1_Missense_Mutation_p.C355Y|MYBPC1_ENST00000361685.2_Missense_Mutation_p.C380Y|MYBPC1_ENST00000360610.2_Missense_Mutation_p.C355Y|RP11-755O11.2_ENST00000547027.1_RNA|MYBPC1_ENST00000553190.1_Missense_Mutation_p.C355Y|MYBPC1_ENST00000452455.2_Missense_Mutation_p.C355Y|RP11-755O11.2_ENST00000552081.1_RNA|MYBPC1_ENST00000392934.3_Missense_Mutation_p.C342Y			Q00872	MYPC1_HUMAN	myosin binding protein C, slow type	355	Ig-like C2-type 3.				cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						ACTGCTTATTGTGGGGAGAGA	0.378													11	77					0	0	1	0	0	A	102041871	G	A	102041871	3	1	81	1	0	0	0	0	1	0	0	0	10059	1377	48	2	1193	2	MYBPC1	12	102041871	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	5671	102041871	31810024	9875	13491											
GNPTAB	79158	broad.mit.edu	37	12	102158793	102158793	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:102158793G>A	ENST00000299314.7	-	13	2164	c.1902C>T	c.(1900-1902)gaC>gaT	p.D634D		NM_024312.4	NP_077288.2	Q3T906	GNPTA_HUMAN	N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits	634					cell differentiation	Golgi membrane|integral to membrane|nucleus	metal ion binding|transcription factor binding|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	37						CCTCCCTTGTGTCCACCTCCA	0.408													45	67					0	0	1	0	0	A	102158793	G	A	102158793	2	1	81	1	0	0	0	0	0	0	0	1	6587	1368	48	2		2	GNPTAB	12	102158793	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	116922	102158793	31693102	9876	13492											
GNPTAB	79158	broad.mit.edu	37	12	102158832	102158832	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:102158832G>A	ENST00000299314.7	-	13	2125	c.1863C>T	c.(1861-1863)aaC>aaT	p.N621N		NM_024312.4	NP_077288.2	Q3T906	GNPTA_HUMAN	N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits	621					cell differentiation	Golgi membrane|integral to membrane|nucleus	metal ion binding|transcription factor binding|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	37						ACTCTTCATCGTTTGTATTTT	0.403													50	68					0	0	1	0	0	A	102158832	G	A	102158832	2	1	81	1	0	0	0	0	0	0	0	1	6587	1136	40	1		1	GNPTAB	12	102158832	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	39	102158832	31693063	9877	13493											
PAH	5053	broad.mit.edu	37	12	103310897	103310897	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:103310897C>T	ENST00000553106.1	-	1	484	c.12G>A	c.(10-12)gcG>gcA	p.A4A	PAH_ENST00000307000.2_5'UTR|PAH_ENST00000551988.1_5'UTR	NM_000277.1	NP_000268.1	P00439	PH4H_HUMAN	phenylalanine hydroxylase	4					catecholamine biosynthetic process|L-phenylalanine catabolic process|neurotransmitter biosynthetic process	cytosol	phenylalanine 4-monooxygenase activity			endometrium(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(5)|skin(2)|urinary_tract(1)	27					Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Levodopa(DB01235)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360)	TTTCCAGGACCGCAGTGGACA	0.577													16	30					0	0	1	0	0	T	103310897	C	T	103310897	2	4	81	1	0	0	0	0	0	0	0	1	11441	639	23	1		1	PAH	12	103310897	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1152065	103310897	30540998	9878	13494											
HSP90B1	7184	broad.mit.edu	37	12	104335272	104335272	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:104335272G>A	ENST00000299767.5	+	9	1359	c.1177G>A	c.(1177-1179)Gct>Act	p.A393T		NM_003299.2	NP_003290.1	P14625	ENPL_HUMAN	heat shock protein 90kDa beta (Grp94), member 1	393					actin rod assembly|anti-apoptosis|cellular response to ATP|ER-associated protein catabolic process|protein folding|protein transport|regulation of phosphoprotein phosphatase activity|response to hypoxia|sequestering of calcium ion	cytosol|endoplasmic reticulum lumen|endoplasmic reticulum membrane|melanosome|microsome|midbody|perinuclear region of cytoplasm	ATP binding|calcium ion binding|low-density lipoprotein particle receptor binding|protein phosphatase binding|RNA binding|unfolded protein binding|virion binding			central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(4)	29					Rifabutin(DB00615)	ACCCACATCTGCTCCACGTGG	0.368													10	107					0	0	1	0	0	A	104335272	G	A	104335272	3	1	81	1	0	0	0	0	1	0	0	0	7446	1319	46	2	1211	2	HSP90B1	12	104335272	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1024375	104335272	29516623	9879	13495											
HSP90B1	7184	broad.mit.edu	37	12	104337581	104337581	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:104337581C>T	ENST00000299767.5	+	14	2138	c.1956C>T	c.(1954-1956)taC>taT	p.Y652Y		NM_003299.2	NP_003290.1	P14625	ENPL_HUMAN	heat shock protein 90kDa beta (Grp94), member 1	652					actin rod assembly|anti-apoptosis|cellular response to ATP|ER-associated protein catabolic process|protein folding|protein transport|regulation of phosphoprotein phosphatase activity|response to hypoxia|sequestering of calcium ion	cytosol|endoplasmic reticulum lumen|endoplasmic reticulum membrane|melanosome|microsome|midbody|perinuclear region of cytoplasm	ATP binding|calcium ion binding|low-density lipoprotein particle receptor binding|protein phosphatase binding|RNA binding|unfolded protein binding|virion binding			central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(4)	29					Rifabutin(DB00615)	CCAGCCAGTACGGATGGTCTG	0.473													15	17					0	0	1	0	0	T	104337581	C	T	104337581	2	4	81	1	0	0	0	0	0	0	0	1	7446	547	19	1		1	HSP90B1	12	104337581	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2309	104337581	29514314	9880	13496											
HCFC2	29915	broad.mit.edu	37	12	104490205	104490205	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:104490205G>A	ENST00000229330.4	+	12	1838	c.1734G>A	c.(1732-1734)ccG>ccA	p.P578P	HCFC2_ENST00000550335.1_3'UTR	NM_013320.2	NP_037452.1	Q9Y5Z7	HCFC2_HUMAN	host cell factor C2	578					regulation of transcription from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleus	transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						CAGCAACGCCGTTTTCTGTAA	0.343													31	43					0	0	1	0	0	A	104490205	G	A	104490205	2	1	81	1	0	0	0	0	0	0	0	1	7034	1132	40	1		1	HCFC2	12	104490205	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	152624	104490205	29361690	9881	13497											
ALDH1L2	160428	broad.mit.edu	37	12	105420437	105420437	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:105420437T>C	ENST00000258494.9	-	22	2742	c.2602A>G	c.(2602-2604)Atg>Gtg	p.M868V	C12orf45_ENST00000548583.1_Intron	NM_001034173.3	NP_001029345.2	Q3SY69	AL1L2_HUMAN	aldehyde dehydrogenase 1 family, member L2	868	Aldehyde dehydrogenase.				10-formyltetrahydrofolate catabolic process|biosynthetic process	mitochondrion	acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity|phosphopantetheine binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|prostate(2)|skin(3)|stomach(2)	35						CTCACATACATAGCTTTGTTT	0.423													34	195					0	0	1	0	0	C	105420437	T	C	105420437	3	2	81	1	0	0	0	0	1	0	0	0	492	1406	49	3	177	3	ALDH1L2	12	105420437	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	930232	105420437	28431458	9882	13498											
ALDH1L2	160428	broad.mit.edu	37	12	105431891	105431891	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:105431891G>T	ENST00000258494.9	-	18	2275	c.2135C>A	c.(2134-2136)gCt>gAt	p.A712D	C12orf45_ENST00000548583.1_Intron	NM_001034173.3	NP_001029345.2	Q3SY69	AL1L2_HUMAN	aldehyde dehydrogenase 1 family, member L2	712	Aldehyde dehydrogenase.			A -> T (in Ref. 1; AAI03935).	10-formyltetrahydrofolate catabolic process|biosynthetic process	mitochondrion	acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity|phosphopantetheine binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|prostate(2)|skin(3)|stomach(2)	35						CATTCGCACAGCCTTGTCAAG	0.463													11	30					2.61681e-11	3.23796e-11	1	1	0	T	105431891	G	T	105431891	3	4	81	1	0	0	0	0	1	0	0	0	492	971	34	4	660	4	ALDH1L2	12	105431891	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	11454	105431891	28420004	9883	13499											
KIAA1033	23325	broad.mit.edu	37	12	105551100	105551100	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:105551100G>T	ENST00000332180.5	+	28	2999	c.2912G>T	c.(2911-2913)aGg>aTg	p.R971M		NM_015275.1	NP_056090.1	Q2M389	WAHS7_HUMAN	KIAA1033	971					endosome transport	WASH complex				breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41						AAAGCAGCAAGGTAATCTAAA	0.274													4	32					0.150653	0.152522	1	1	0	T	105551100	G	T	105551100	5	4	81	1	0	0	0	0	0	0	1	0	8248	1014	35	4	3022	4	KIAA1033	12	105551100	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	119209	105551100	28300795	9884	13500											
APPL2	55198	broad.mit.edu	37	12	105570695	105570695	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:105570695G>T	ENST00000258530.3	-	19	1996	c.1771C>A	c.(1771-1773)Ctg>Atg	p.L591M	APPL2_ENST00000551662.1_Missense_Mutation_p.L597M|APPL2_ENST00000539978.2_Missense_Mutation_p.L548M	NM_001251904.1|NM_018171.3	NP_001238833.1|NP_060641.2	Q8NEU8	DP13B_HUMAN	adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2	591	PID.				cell cycle|cell proliferation|signal transduction	early endosome membrane|nucleus	protein binding			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						TATGTACTCAGAGATTCTTCT	0.393													44	65					9.39024e-22	1.23066e-21	1	1	0	T	105570695	G	T	105570695	3	4	81	1	0	0	0	0	1	0	0	0	815	933	33	4	235	4	APPL2	12	105570695	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	19595	105570695	28281200	9885	13501											
NUAK1	9891	broad.mit.edu	37	12	106460608	106460608	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:106460608G>A	ENST00000261402.2	-	7	3337	c.1958C>T	c.(1957-1959)gCg>gTg	p.A653V		NM_014840.2	NP_055655.1	O60285	NUAK1_HUMAN	NUAK family, SNF1-like kinase, 1	653							ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37						GATCTCCAGCGCTTGCTTGTA	0.632													52	84					0	0	1	0	0	A	106460608	G	A	106460608	3	1	81	1	0	0	0	0	1	0	0	0	10760	1087	38	1	31	1	NUAK1	12	106460608	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	889913	106460608	27391287	9886	13502											
NUAK1	9891	broad.mit.edu	37	12	106460869	106460869	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:106460869C>T	ENST00000261402.2	-	7	3076	c.1697G>A	c.(1696-1698)aGc>aAc	p.S566N		NM_014840.2	NP_055655.1	O60285	NUAK1_HUMAN	NUAK family, SNF1-like kinase, 1	566							ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.S566I(2)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37						GGAAGGGCGGCTGTAGCTCCG	0.637													15	19					0	0	1	0	0	T	106460869	C	T	106460869	3	4	81	1	0	0	0	0	1	0	0	0	10760	797	28	2	292	2	NUAK1	12	106460869	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	261	106460869	27391026	9887	13503											
NUAK1	9891	broad.mit.edu	37	12	106461707	106461707	+	Missense_Mutation	SNP	G	G	T	rs56311486	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:106461707G>T	ENST00000261402.2	-	7	2238	c.859C>A	c.(859-861)Ctg>Atg	p.L287M		NM_014840.2	NP_055655.1	O60285	NUAK1_HUMAN	NUAK family, SNF1-like kinase, 1	287	Protein kinase.						ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37						TTCACCATCAGCATCCACCGT	0.547													16	26					2.23348e-06	2.55658e-06	1	1	0	T	106461707	G	T	106461707	3	4	81	1	0	0	0	0	1	0	0	0	10760	962	34	4	1130	4	NUAK1	12	106461707	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	838	106461707	27390188	9888	13504											
CKAP4	10970	broad.mit.edu	37	12	106633424	106633424	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:106633424G>A	ENST00000378026.4	-	2	1323	c.1187C>T	c.(1186-1188)tCg>tTg	p.S396L		NM_006825.3	NP_006816.2	Q07065	CKAP4_HUMAN	cytoskeleton-associated protein 4	396						ER-Golgi intermediate compartment membrane|integral to membrane|membrane fraction				NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|pancreas(1)|urinary_tract(1)	20						AAAGGCTTCCGAGTGTCTGAA	0.637													29	32					0	0	1	0	0	A	106633424	G	A	106633424	3	1	81	1	0	0	0	0	1	0	0	0	3467	1059	37	1	625	1	CKAP4	12	106633424	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	171717	106633424	27218471	9889	13505											
POLR3B	55703	broad.mit.edu	37	12	106903274	106903274	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:106903274C>T	ENST00000228347.4	+	28	3571	c.3349C>T	c.(3349-3351)Cta>Tta	p.L1117L	RP11-144F15.1_ENST00000551505.1_Intron|POLR3B_ENST00000539066.1_Silent_p.L1059L	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN	polymerase (RNA) III (DNA directed) polypeptide B	1117					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						CTTCCAGGAACTACAGTCTAT	0.443													21	57					0	0	1	0	0	T	106903274	C	T	106903274	2	4	81	1	0	0	0	0	0	0	0	1	12277	564	20	2		2	POLR3B	12	106903274	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	269850	106903274	26948621	9890	13506	65	2									
POLR3B	55703	broad.mit.edu	37	12	106903277	106903277	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:106903277C>T	ENST00000228347.4	+	28	3574	c.3352C>T	c.(3352-3354)Cag>Tag	p.Q1118*	RP11-144F15.1_ENST00000551505.1_Intron|POLR3B_ENST00000539066.1_Nonsense_Mutation_p.Q1060*	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN	polymerase (RNA) III (DNA directed) polypeptide B	1118					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						CCAGGAACTACAGTCTATGAA	0.443													22	55					0	0	1	0	0	T	106903277	C	T	106903277	4	4	81	1	0	0	0	0	0	1	0	0	12277	479	17	2	3462	2	POLR3B	12	106903277	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3	106903277	26948618	9891	13507	65	2									
RFX4	5992	broad.mit.edu	37	12	107033141	107033141	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:107033141G>A	ENST00000392842.1	+	3	576	c.162G>A	c.(160-162)aaG>aaA	p.K54K	RP11-144F15.1_ENST00000551505.1_Intron|RFX4_ENST00000357881.4_Silent_p.K63K	NM_213594.2	NP_998759.1	Q33E94	RFX4_HUMAN	regulatory factor X, 4 (influences HLA class II expression)	54					transcription, DNA-dependent	nucleus	DNA binding			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(20)|pancreas(1)|upper_aerodigestive_tract(1)	35						GAGCATCCAAGCCCCACTCCA	0.383													25	27					0	0	1	0	0	A	107033141	G	A	107033141	2	1	81	1	0	0	0	0	0	0	0	1	13317	962	34	2		2	RFX4	12	107033141	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	129864	107033141	26818754	9892	13508											
RFX4	5992	broad.mit.edu	37	12	107155035	107155035	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:107155035C>A	ENST00000392842.1	+	18	2410	c.1996C>A	c.(1996-1998)Ctg>Atg	p.L666M	RFX4_ENST00000229387.5_Missense_Mutation_p.L572M|RP11-144F15.1_ENST00000551505.1_Intron|RFX4_ENST00000357881.4_Missense_Mutation_p.L675M	NM_213594.2	NP_998759.1	Q33E94	RFX4_HUMAN	regulatory factor X, 4 (influences HLA class II expression)	666					transcription, DNA-dependent	nucleus	DNA binding			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(20)|pancreas(1)|upper_aerodigestive_tract(1)	35						TACTCCCAGACTGCATCCTAC	0.517													61	117					5.82218e-30	7.75948e-30	1	1	0	A	107155035	C	A	107155035	3	1	81	1	0	0	0	0	1	0	0	0	13317	564	20	4	2271	4	RFX4	12	107155035	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	121894	107155035	26696860	9893	13509											
MTERFD3	80298	broad.mit.edu	37	12	107372068	107372068	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:107372068G>T	ENST00000552029.1	-	2	2493	c.425C>A	c.(424-426)aCt>aAt	p.T142N	MTERFD3_ENST00000240050.4_Missense_Mutation_p.T142N|MTERFD3_ENST00000392830.2_Missense_Mutation_p.T142N|C12orf23_ENST00000551237.1_Intron			Q49AM1	MTER3_HUMAN	MTERF domain containing 3	142					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial nucleoid	transcription regulatory region DNA binding			breast(1)|kidney(1)|large_intestine(2)|lung(3)	7						GTCTTTAATAGTAAAGAAAGA	0.393													29	57					2.65835e-16	3.41045e-16	1	1	0	T	107372068	G	T	107372068	3	4	81	1	0	0	0	0	1	0	0	0	9969	1029	36	4	736	4	MTERFD3	12	107372068	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	217033	107372068	26479827	9894	13510											
CRY1	1407	broad.mit.edu	37	12	107395143	107395143	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:107395143A>C	ENST00000008527.5	-	5	1466	c.599T>G	c.(598-600)tTt>tGt	p.F200C		NM_004075.4	NP_004066.1	Q16526	CRY1_HUMAN	cryptochrome 1 (photolyase-like)	200					DNA repair|protein-chromophore linkage|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	blue light photoreceptor activity|DNA photolyase activity|double-stranded DNA binding|nucleotide binding|protein binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|skin(1)	29						ATCTGTATCAAAACCTACAAG	0.348													19	37					0	0	1	0	0	C	107395143	A	C	107395143	3	2	81	1	0	0	0	0	1	0	0	0	3926	14	1	5	1193	5	CRY1	12	107395143	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	23075	107395143	26456752	9895	13511											
CRY1	1407	broad.mit.edu	37	12	107395629	107395629	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:107395629T>C	ENST00000008527.5	-	4	1375	c.508A>G	c.(508-510)Att>Gtt	p.I170V		NM_004075.4	NP_004066.1	Q16526	CRY1_HUMAN	cryptochrome 1 (photolyase-like)	170	DNA photolyase.				DNA repair|protein-chromophore linkage|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	blue light photoreceptor activity|DNA photolyase activity|double-stranded DNA binding|nucleotide binding|protein binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|skin(1)	29						TCTGAAGTAATTGTCTCTACT	0.413													16	139					0	0	1	0	0	C	107395629	T	C	107395629	3	2	81	1	0	0	0	0	1	0	0	0	3926	1493	52	3	1288	3	CRY1	12	107395629	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	486	107395629	26456266	9896	13512											
PWP1	11137	broad.mit.edu	37	12	108102935	108102935	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:108102935G>A	ENST00000412830.3	+	13	1384	c.1216G>A	c.(1216-1218)Gct>Act	p.A406T	PWP1_ENST00000541166.1_Missense_Mutation_p.A344T	NM_007062.1	NP_008993.1	Q13610	PWP1_HUMAN	PWP1 homolog (S. cerevisiae)	406					transcription, DNA-dependent	nucleus				breast(3)|endometrium(4)|kidney(1)|large_intestine(8)|lung(6)|urinary_tract(1)	23						GACTGCTTCAGCTGACAAATA	0.403													12	112					0	0	1	0	0	A	108102935	G	A	108102935	3	1	81	1	0	0	0	0	1	0	0	0	12895	971	34	2	1266	2	PWP1	12	108102935	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	707306	108102935	25748960	9897	13513											
PWP1	11137	broad.mit.edu	37	12	108102955	108102955	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:108102955C>A	ENST00000412830.3	+	13	1404	c.1236C>A	c.(1234-1236)atC>atA	p.I412I	PWP1_ENST00000541166.1_Silent_p.I350I	NM_007062.1	NP_008993.1	Q13610	PWP1_HUMAN	PWP1 homolog (S. cerevisiae)	412					transcription, DNA-dependent	nucleus				breast(3)|endometrium(4)|kidney(1)|large_intestine(8)|lung(6)|urinary_tract(1)	23						ACGTGAAGATCTGGGACATCT	0.398													7	125					0.00198382	0.00209725	1	1	0	A	108102955	C	A	108102955	2	1	81	1	0	0	0	0	0	0	0	1	12895	903	32	4		4	PWP1	12	108102955	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	20	108102955	25748940	9898	13514											
PWP1	11137	broad.mit.edu	37	12	108104204	108104204	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:108104204G>A	ENST00000412830.3	+	14	1481	c.1313G>A	c.(1312-1314)tGt>tAt	p.C438Y	PWP1_ENST00000541166.1_Missense_Mutation_p.C376Y	NM_007062.1	NP_008993.1	Q13610	PWP1_HUMAN	PWP1 homolog (S. cerevisiae)	438					transcription, DNA-dependent	nucleus				breast(3)|endometrium(4)|kidney(1)|large_intestine(8)|lung(6)|urinary_tract(1)	23						TGTTCTTCATGTTGCCCTGAT	0.413													31	47					0	0	1	0	0	A	108104204	G	A	108104204	3	1	81	1	0	0	0	0	1	0	0	0	12895	1377	48	2	1367	2	PWP1	12	108104204	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1249	108104204	25747691	9899	13515											
WSCD2	9671	broad.mit.edu	37	12	108618605	108618605	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:108618605G>A	ENST00000332082.4	+	6	1590	c.772G>A	c.(772-774)Gtg>Atg	p.V258M	WSCD2_ENST00000549903.1_Missense_Mutation_p.V258M|WSCD2_ENST00000547525.1_Missense_Mutation_p.V258M|WSCD2_ENST00000261400.3_Missense_Mutation_p.V258M			Q2TBF2	WSCD2_HUMAN	WSC domain containing 2	258	WSC 2.					integral to membrane				breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	57						GAACATGTCTGTGGACAAATG	0.587													6	63					0	0	1	0	0	A	108618605	G	A	108618605	3	1	81	1	0	0	0	0	1	0	0	0	17467	1377	48	2	786	2	WSCD2	12	108618605	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	514401	108618605	25233290	9900	13516											
FICD	11153	broad.mit.edu	37	12	108910886	108910886	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:108910886C>T	ENST00000552695.1	+	2	372	c.137C>T	c.(136-138)gCt>gTt	p.A46V	FICD_ENST00000552758.1_Missense_Mutation_p.A46V|FICD_ENST00000361549.2_Missense_Mutation_p.A46V	NM_007076.2	NP_009007.2	Q9BVA6	FICD_HUMAN	FIC domain containing	46					negative regulation of Rho GTPase activity	integral to membrane	binding|protein adenylyltransferase activity			NS(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(1)|prostate(1)|upper_aerodigestive_tract(2)	15						CCGCTGGGGGCTGTGGAGGAG	0.657													13	17					0	0	1	0	0	T	108910886	C	T	108910886	3	4	81	1	0	0	0	0	1	0	0	0	5920	797	28	2	139	2	FICD	12	108910886	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	292281	108910886	24941009	9901	13517											
FICD	11153	broad.mit.edu	37	12	108912950	108912950	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:108912950C>T	ENST00000552695.1	+	3	1310	c.1075C>T	c.(1075-1077)Ctc>Ttc	p.L359F	FICD_ENST00000361549.2_3'UTR	NM_007076.2	NP_009007.2	Q9BVA6	FICD_HUMAN	FIC domain containing	359	Fido.				negative regulation of Rho GTPase activity	integral to membrane	binding|protein adenylyltransferase activity			NS(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(1)|prostate(1)|upper_aerodigestive_tract(2)	15						CCATTATAAACTCGTTTACAT	0.542													43	54					0	0	1	0	0	T	108912950	C	T	108912950	3	4	81	1	0	0	0	0	1	0	0	0	5920	565	20	2	1081	2	FICD	12	108912950	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2064	108912950	24938945	9902	13518											
FICD	11153	broad.mit.edu	37	12	108913162	108913162	+	Silent	SNP	G	G	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:108913162G>C	ENST00000552695.1	+	3	1522	c.1287G>C	c.(1285-1287)ctG>ctC	p.L429L	FICD_ENST00000361549.2_3'UTR	NM_007076.2	NP_009007.2	Q9BVA6	FICD_HUMAN	FIC domain containing	429					negative regulation of Rho GTPase activity	integral to membrane	binding|protein adenylyltransferase activity			NS(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(1)|prostate(1)|upper_aerodigestive_tract(2)	15						TGGACACCCTGCTTTTTGCCA	0.557													9	23					0	0	1	0	0	C	108913162	G	C	108913162	2	2	81	1	0	0	0	0	0	0	0	1	5920	1306	46	5		5	FICD	12	108913162	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	212	108913162	24938733	9903	13519											
SART3	9733	broad.mit.edu	37	12	108920130	108920130	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:108920130C>T	ENST00000228284.3	-	16	2350	c.2116G>A	c.(2116-2118)Gtc>Atc	p.V706I	SART3_ENST00000431469.2_Missense_Mutation_p.V670I	NM_014706.3	NP_055521.1	Q15020	SART3_HUMAN	squamous cell carcinoma antigen recognized by T cells 3	706	RRM 1.				RNA processing	cytoplasm|nuclear speck	nucleotide binding|protein binding|RNA binding			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|stomach(1)	25						CTGACAAAGACGGTGATGCTG	0.602									Porokeratosis				20	23					0	0	1	0	0	T	108920130	C	T	108920130	3	4	81	1	0	0	0	0	1	0	0	0	13900	536	19	1	791	1	SART3	12	108920130	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	6968	108920130	24931765	9904	13520											
TMEM119	338773	broad.mit.edu	37	12	108985995	108985995	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:108985995C>T	ENST00000392806.3	-	2	333	c.165G>A	c.(163-165)ccG>ccA	p.P55P		NM_181724.2	NP_859075.2	Q4V9L6	TM119_HUMAN	transmembrane protein 119	55						integral to membrane		p.P55P(1)		large_intestine(2)|lung(3)|ovary(1)|skin(1)	7						TCCAGGGTGGCGGGAGGCTCG	0.706													6	10					0	0	1	0	0	T	108985995	C	T	108985995	2	4	81	1	0	0	0	0	0	0	0	1	16092	755	27	1		1	TMEM119	12	108985995	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	65865	108985995	24865900	9905	13521											
CORO1C	23603	broad.mit.edu	37	12	109095064	109095064	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:109095064G>A	ENST00000261401.3	-	2	203	c.31C>T	c.(31-33)Cgg>Tgg	p.R11W	CORO1C_ENST00000549384.1_Intron|CORO1C_ENST00000541050.1_Missense_Mutation_p.R11W|CORO1C_ENST00000420959.2_Missense_Mutation_p.R64W|CORO1C_ENST00000549772.1_Missense_Mutation_p.R17W	NM_001105237.2|NM_001276471.1|NM_014325.2	NP_001098707.1|NP_001263400.1|NP_055140.1	Q9ULV4	COR1C_HUMAN	coronin, actin binding protein, 1C	11					actin cytoskeleton organization|phagocytosis|signal transduction	actin cytoskeleton	actin filament binding			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|skin(4)	24						AATACATGCCGAAACTTGCTC	0.443													5	76					0	0	1	0	0	A	109095064	G	A	109095064	3	1	81	1	0	0	0	0	1	0	0	0	3778	1057	37	1	1433	1	CORO1C	12	109095064	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	109069	109095064	24756831	9906	13522											
ACACB	32	broad.mit.edu	37	12	109577714	109577714	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:109577714C>A	ENST00000338432.7	+	2	623	c.504C>A	c.(502-504)ggC>ggA	p.G168G	ACACB_ENST00000377854.5_Silent_p.G168G|ACACB_ENST00000377848.3_Silent_p.G168G			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	168					acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	TCATCCTGGGCTCTTTTGATG	0.607													29	61					1.80694e-10	2.21318e-10	1	1	0	A	109577714	C	A	109577714	2	1	81	1	0	0	0	0	0	0	0	1	107	784	28	4		4	ACACB	12	109577714	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	482650	109577714	24274181	9907	13523											
ACACB	32	broad.mit.edu	37	12	109614053	109614053	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:109614053G>A	ENST00000338432.7	+	9	1541	c.1422G>A	c.(1420-1422)ccG>ccA	p.P474P	ACACB_ENST00000377854.5_Silent_p.P474P|ACACB_ENST00000377848.3_Silent_p.P474P|ACACB_ENST00000543080.1_3'UTR			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	474	ATP-grasp.|Biotin carboxylation.				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	AGGACTTCCCGATCCTTTTCA	0.478													98	137					0	0	1	0	0	A	109614053	G	A	109614053	2	1	81	1	0	0	0	0	0	0	0	1	107	1045	37	1		1	ACACB	12	109614053	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	36339	109614053	24237842	9908	13524											
ACACB	32	broad.mit.edu	37	12	109644624	109644624	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:109644624G>A	ENST00000338432.7	+	20	3142	c.3023G>A	c.(3022-3024)aGt>aAt	p.S1008N	ACACB_ENST00000377854.5_Missense_Mutation_p.S1008N|ACACB_ENST00000377848.3_Missense_Mutation_p.S1008N			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	1008					acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	AACGTCATGAGTGGCTTTTGT	0.547													34	57					0	0	1	0	0	A	109644624	G	A	109644624	3	1	81	1	0	0	0	0	1	0	0	0	107	1029	36	2	3097	2	ACACB	12	109644624	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	30571	109644624	24207271	9909	13525											
ACACB	32	broad.mit.edu	37	12	109673127	109673127	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:109673127C>A	ENST00000338432.7	+	32	4476	c.4357C>A	c.(4357-4359)Ctt>Att	p.L1453I	ACACB_ENST00000377854.5_Missense_Mutation_p.L1383I|ACACB_ENST00000543201.1_Missense_Mutation_p.L119I|ACACB_ENST00000377848.3_Missense_Mutation_p.L1453I			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	1453					acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	GAAAAATATCCTTGTGGATTA	0.403													6	78					0.0381472	0.0389402	1	1	0	A	109673127	C	A	109673127	3	1	81	1	0	0	0	0	1	0	0	0	107	681	24	4	4479	4	ACACB	12	109673127	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	28503	109673127	24178768	9910	13526											
FOXN4	121643	broad.mit.edu	37	12	109719221	109719221	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:109719221C>T	ENST00000299162.5	-	9	1389	c.1285G>A	c.(1285-1287)Gct>Act	p.A429T	FOXN4_ENST00000355216.1_Missense_Mutation_p.A249T	NM_213596.2	NP_998761.2	Q96NZ1	FOXN4_HUMAN	forkhead box N4	429					axon extension|embryo development|organ development|pattern specification process|regulation of heart contraction|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			large_intestine(5)|lung(9)|ovary(2)	16						CCCTGCAGAGCGAAGTCCATG	0.612													17	34					0	0	1	0	0	T	109719221	C	T	109719221	3	4	81	1	0	0	0	0	1	0	0	0	6056	768	27	1	276	1	FOXN4	12	109719221	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	46094	109719221	24132674	9911	13527											
FOXN4	121643	broad.mit.edu	37	12	109719350	109719350	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:109719350C>T	ENST00000299162.5	-	9	1260	c.1156G>A	c.(1156-1158)Gcc>Acc	p.A386T	FOXN4_ENST00000355216.1_Missense_Mutation_p.A206T	NM_213596.2	NP_998761.2	Q96NZ1	FOXN4_HUMAN	forkhead box N4	386					axon extension|embryo development|organ development|pattern specification process|regulation of heart contraction|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			large_intestine(5)|lung(9)|ovary(2)	16						TCCGGCAGGGCGTGCAGTGGC	0.657													3	11					0	0	1	0	0	T	109719350	C	T	109719350	3	4	81	1	0	0	0	0	1	0	0	0	6056	768	27	1	405	1	FOXN4	12	109719350	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	129	109719350	24132545	9912	13528											
MYO1H	283446	broad.mit.edu	37	12	109879449	109879449	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:109879449C>A	ENST00000310903.5	+	26	2626	c.2520C>A	c.(2518-2520)atC>atA	p.I840I	MYO1H_ENST00000431443.2_Silent_p.I850I			B4DNW6	B4DNW6_HUMAN	myosin IH	31						myosin complex	motor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(17)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	47						CAAGTGAAATCTTCAGGGGAA	0.413													4	22					0.00909568	0.00944708	1	1	0	A	109879449	C	A	109879449	2	1	81	1	0	0	0	0	0	0	0	1	10123	903	32	4		4	MYO1H	12	109879449	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	160099	109879449	23972446	9913	13529											
KCTD10	83892	broad.mit.edu	37	12	109889431	109889431	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:109889431C>T	ENST00000228495.6	-	7	1192	c.911G>A	c.(910-912)cGc>cAc	p.R304H	KCTD10_ENST00000540411.1_Missense_Mutation_p.R278H|KCTD10_ENST00000424763.2_Missense_Mutation_p.R123H|KCTD10_ENST00000538161.1_5'UTR|KCTD10_ENST00000540089.1_Missense_Mutation_p.R123H	NM_031954.3	NP_114160.1	Q9H3F6	BACD3_HUMAN	potassium channel tetramerization domain containing 10	304					proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination	Cul3-RING ubiquitin ligase complex|cytoplasm|nucleus|voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)	10						GTCATCAGGGCGCTTGATGTG	0.706													12	35					0	0	1	0	0	T	109889431	C	T	109889431	3	4	81	1	0	0	0	0	1	0	0	0	8141	768	27	1	34	1	KCTD10	12	109889431	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	9982	109889431	23962464	9914	13530											
UBE3B	89910	broad.mit.edu	37	12	109926386	109926386	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:109926386C>A	ENST00000342494.3	+	7	1052	c.457C>A	c.(457-459)Ctg>Atg	p.L153M	UBE3B_ENST00000434735.2_Missense_Mutation_p.L153M|UBE3B_ENST00000536398.1_Missense_Mutation_p.L153M|UBE3B_ENST00000540230.1_Missense_Mutation_p.L153M|UBE3B_ENST00000537063.1_Missense_Mutation_p.L153M|UBE3B_ENST00000340074.5_Missense_Mutation_p.L153M|UBE3B_ENST00000280774.5_Missense_Mutation_p.L153M	NM_130466.3	NP_569733.2	Q7Z3V4	UBE3B_HUMAN	ubiquitin protein ligase E3B	153					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity			NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2)	45						GCCTGAAATCCTGCAGGACTC	0.468													9	372					0.0581538	0.0592525	1	1	0	A	109926386	C	A	109926386	3	1	81	1	0	0	0	0	1	0	0	0	16941	680	24	4	475	4	UBE3B	12	109926386	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	36955	109926386	23925509	9915	13531											
UBE3B	89910	broad.mit.edu	37	12	109945392	109945392	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:109945392C>T	ENST00000342494.3	+	15	2069	c.1474C>T	c.(1474-1476)Ctt>Ttt	p.L492F	UBE3B_ENST00000434735.2_Missense_Mutation_p.L492F|UBE3B_ENST00000535900.1_3'UTR|UBE3B_ENST00000280774.5_Missense_Mutation_p.L492F	NM_130466.3	NP_569733.2	Q7Z3V4	UBE3B_HUMAN	ubiquitin protein ligase E3B	492					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity			NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2)	45						TGATGACCTGCTTCCCAAACT	0.493													31	70					0	0	1	0	0	T	109945392	C	T	109945392	3	4	81	1	0	0	0	0	1	0	0	0	16941	797	28	2	1524	2	UBE3B	12	109945392	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	19006	109945392	23906503	9916	13532											
MMAB	326625	broad.mit.edu	37	12	110002938	110002938	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:110002938C>T	ENST00000545712.2	-	4	727	c.334G>A	c.(334-336)Gaa>Aaa	p.E112K	MMAB_ENST00000540016.1_Missense_Mutation_p.E60K|MMAB_ENST00000266839.5_Missense_Mutation_p.E21K	NM_052845.3	NP_443077.1	Q96EY8	MMAB_HUMAN	methylmalonic aciduria (cobalamin deficiency) cblB type	112					cobalamin biosynthetic process	mitochondrion	ATP binding|cob(I)yrinic acid a,c-diamide adenosyltransferase activity			cervix(1)|kidney(1)|large_intestine(2)|lung(1)|urinary_tract(1)	6					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TGAAGCTCTTCGGCAAATGTA	0.473													61	120					0	0	1	0	0	T	110002938	C	T	110002938	3	4	81	1	0	0	0	0	1	0	0	0	9688	893	31	1	442	1	MMAB	12	110002938	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	57546	110002938	23848957	9917	13533											
TRPV4	59341	broad.mit.edu	37	12	110224598	110224598	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:110224598G>A	ENST00000418703.2	-	13	2347	c.2253C>T	c.(2251-2253)ttC>ttT	p.F751F	TRPV4_ENST00000541794.1_Silent_p.F704F|TRPV4_ENST00000261740.2_Silent_p.F751F|TRPV4_ENST00000537083.1_Silent_p.F691F|TRPV4_ENST00000536838.1_Silent_p.F717F|TRPV4_ENST00000346520.2_Silent_p.F691F|TRPV4_ENST00000392719.2_Silent_p.F704F|TRPV4_ENST00000544971.1_Silent_p.F644F	NM_001177431.1	NP_001170902.1	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel, subfamily V, member 4	751					actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus	cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane	actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						CCTTCCTCAGGAATACGGGGA	0.662													3	29					0	0	1	0	0	A	110224598	G	A	110224598	2	1	81	1	0	0	0	0	0	0	0	1	16659	1165	41	2		2	TRPV4	12	110224598	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	221660	110224598	23627297	9918	13534											
TRPV4	59341	broad.mit.edu	37	12	110232147	110232147	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:110232147G>A	ENST00000418703.2	-	7	1572	c.1478C>T	c.(1477-1479)cCg>cTg	p.P493L	TRPV4_ENST00000541794.1_Missense_Mutation_p.P446L|TRPV4_ENST00000261740.2_Missense_Mutation_p.P493L|TRPV4_ENST00000537083.1_Missense_Mutation_p.P433L|TRPV4_ENST00000536838.1_Missense_Mutation_p.P459L|TRPV4_ENST00000346520.2_Missense_Mutation_p.P433L|TRPV4_ENST00000392719.2_Missense_Mutation_p.P446L|TRPV4_ENST00000544971.1_Missense_Mutation_p.P386L	NM_001177431.1	NP_001170902.1	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel, subfamily V, member 4	493					actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus	cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane	actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						GCCCTCCAGCGGCTGGTAGTA	0.642													6	37					0	0	1	0	0	A	110232147	G	A	110232147	3	1	81	1	0	0	0	0	1	0	0	0	16659	1116	39	1	1173	1	TRPV4	12	110232147	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	7549	110232147	23619748	9919	13535											
GIT2	9815	broad.mit.edu	37	12	110429453	110429453	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:110429453C>T	ENST00000360185.4	-	2	329	c.165G>A	c.(163-165)ccG>ccA	p.P55P	GIT2_ENST00000457474.2_Silent_p.P55P|GIT2_ENST00000354574.4_Silent_p.P55P|GIT2_ENST00000338373.5_Silent_p.P55P|GIT2_ENST00000547815.1_Silent_p.P55P|GIT2_ENST00000356259.4_Silent_p.P55P|GIT2_ENST00000320063.9_Silent_p.P55P|GIT2_ENST00000343646.5_Silent_p.P55P|GIT2_ENST00000553118.1_Silent_p.P55P|GIT2_ENST00000355312.3_Silent_p.P55P|GIT2_ENST00000551209.1_Silent_p.P55P|GIT2_ENST00000361006.5_Silent_p.P55P	NM_014776.3	NP_055591.2	Q14161	GIT2_HUMAN	G protein-coupled receptor kinase interacting ArfGAP 2	55	Arf-GAP.				regulation of ARF GTPase activity|regulation of G-protein coupled receptor protein signaling pathway	nucleoplasm	ARF GTPase activator activity|protein binding|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|skin(4)	27						TTGGAGGCCACGGTGTGTGTT	0.438													8	55					0	0	1	0	0	T	110429453	C	T	110429453	2	4	81	1	0	0	0	0	0	0	0	1	6439	523	19	1		1	GIT2	12	110429453	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	197306	110429453	23422442	9920	13536											
ANKRD13A	88455	broad.mit.edu	37	12	110456215	110456215	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:110456215C>T	ENST00000261739.4	+	5	632	c.466C>T	c.(466-468)Cgc>Tgc	p.R156C	ANKRD13A_ENST00000550404.1_3'UTR	NM_033121.1	NP_149112.1	Q8IZ07	AN13A_HUMAN	ankyrin repeat domain 13A	156										endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(8)|lung(3)|urinary_tract(1)	16						TGCCAAACTGCGCGTCGATAT	0.438													22	33					0	0	1	0	0	T	110456215	C	T	110456215	3	4	81	1	0	0	0	0	1	0	0	0	637	768	27	1	484	1	ANKRD13A	12	110456215	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	26762	110456215	23395680	9921	13537											
ANKRD13A	88455	broad.mit.edu	37	12	110461861	110461861	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:110461861G>A	ENST00000261739.4	+	7	911	c.745G>A	c.(745-747)Gga>Aga	p.G249R		NM_033121.1	NP_149112.1	Q8IZ07	AN13A_HUMAN	ankyrin repeat domain 13A	249										endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(8)|lung(3)|urinary_tract(1)	16						AACTAAATCCGGATTCTGGGG	0.348													20	216					0	0	1	0	0	A	110461861	G	A	110461861	3	1	81	1	0	0	0	0	1	0	0	0	637	1117	39	1	771	1	ANKRD13A	12	110461861	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	5646	110461861	23390034	9922	13538											
ANKRD13A	88455	broad.mit.edu	37	12	110463620	110463620	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:110463620G>T	ENST00000261739.4	+	8	1041	c.875G>T	c.(874-876)aGa>aTa	p.R292I		NM_033121.1	NP_149112.1	Q8IZ07	AN13A_HUMAN	ankyrin repeat domain 13A	292										endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(8)|lung(3)|urinary_tract(1)	16						GAAAAAAAGAGATATAAAGGT	0.398													16	58					6.31663e-08	7.44777e-08	1	1	0	T	110463620	G	T	110463620	3	4	81	1	0	0	0	0	1	0	0	0	637	942	33	4	905	4	ANKRD13A	12	110463620	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1759	110463620	23388275	9923	13539											
C12orf76	400073	broad.mit.edu	37	12	110488836	110488836	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:110488836A>G	ENST00000548191.1	-	2	532	c.275T>C	c.(274-276)gTc>gCc	p.V92A	C12orf76_ENST00000309050.5_Intron|C12orf76_ENST00000548936.1_Intron			Q8N812	CL076_HUMAN	chromosome 12 open reading frame 76	0										endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	6						CATGTTAAAGACACTGTGCAC	0.468													5	7					0	0	1	0	0	G	110488836	A	G	110488836	3	3	81	1	0	0	0	0	1	0	0	0	1721	290	10	3		3	C12orf76	12	110488836	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	25216	110488836	23363059	9924	13540											
IFT81	28981	broad.mit.edu	37	12	110566865	110566865	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:110566865G>A	ENST00000242591.5	+	4	865	c.359G>A	c.(358-360)cGt>cAt	p.R120H	IFT81_ENST00000361948.4_Missense_Mutation_p.R120H|IFT81_ENST00000552912.1_Missense_Mutation_p.R120H	NM_014055.3	NP_054774.2	Q8WYA0	IFT81_HUMAN	intraflagellar transport 81 homolog (Chlamydomonas)	120					cell differentiation|multicellular organismal development|spermatogenesis	intraflagellar transport particle B|microtubule-based flagellum				endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|stomach(1)	10						TATTTAGCTCGTTTTTTAATA	0.383													29	35					0	0	1	0	0	A	110566865	G	A	110566865	3	1	81	1	0	0	0	0	1	0	0	0	7609	1145	40	1	369	1	IFT81	12	110566865	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	78029	110566865	23285030	9925	13541											
ATP2A2	488	broad.mit.edu	37	12	110764194	110764194	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:110764194G>T	ENST00000395494.2	+	6	1026		c.e6-1		ATP2A2_ENST00000308664.6_Splice_Site|ATP2A2_ENST00000539276.2_Splice_Site			P16615	AT2A2_HUMAN	ATPase, Ca++ transporting, cardiac muscle, slow twitch 2						ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport	integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|protein C-terminus binding|S100 alpha binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	38						AACCCGCTTAGGTGAATCTGT	0.463													6	20					3.59834e-05	3.99423e-05	1	1	0	T	110764194	G	T	110764194	5	4	81	1	0	0	0	0	0	0	1	0	1136	1014	35	4	570	4	ATP2A2	12	110764194	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	197329	110764194	23087701	9926	13542											
ATP2A2	488	broad.mit.edu	37	12	110780139	110780139	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:110780139C>T	ENST00000395494.2	+	14	2686	c.2123C>T	c.(2122-2124)gCg>gTg	p.A708V	ATP2A2_ENST00000308664.6_Missense_Mutation_p.A735V|ATP2A2_ENST00000539276.2_Missense_Mutation_p.A735V			P16615	AT2A2_HUMAN	ATPase, Ca++ transporting, cardiac muscle, slow twitch 2	735					ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport	integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|protein C-terminus binding|S100 alpha binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	38						ATGGTCCTGGCGGATGACAAC	0.552													22	32					0	0	1	0	0	T	110780139	C	T	110780139	3	4	81	1	0	0	0	0	1	0	0	0	1136	768	27	1	2262	1	ATP2A2	12	110780139	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	15945	110780139	23071756	9927	13543											
ATP2A2	488	broad.mit.edu	37	12	110783173	110783173	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:110783173T>C	ENST00000395494.2	+	17	3209	c.2646T>C	c.(2644-2646)tgT>tgC	p.C882C	ATP2A2_ENST00000308664.6_Silent_p.C909C|ATP2A2_ENST00000539276.2_Silent_p.C909C			P16615	AT2A2_HUMAN	ATPase, Ca++ transporting, cardiac muscle, slow twitch 2	909					ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport	integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|protein C-terminus binding|S100 alpha binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	38						TAGAAATGTGTAACGCCCTCA	0.517													9	92					0	0	1	0	0	C	110783173	T	C	110783173	2	2	81	1	0	0	0	0	0	0	0	1	1136	1644	57	3		3	ATP2A2	12	110783173	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	3034	110783173	23068722	9928	13544											
ATP2A2	488	broad.mit.edu	37	12	110784072	110784072	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:110784072G>A	ENST00000395494.2	+	19	3408	c.2845G>A	c.(2845-2847)Gtg>Atg	p.V949M	ATP2A2_ENST00000308664.6_Missense_Mutation_p.V976M|ATP2A2_ENST00000539276.2_Missense_Mutation_p.V976M			P16615	AT2A2_HUMAN	ATPase, Ca++ transporting, cardiac muscle, slow twitch 2	976					ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport	integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|protein C-terminus binding|S100 alpha binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	38						CTCCTTGCCCGTGATTCTCAT	0.557													31	54					0	0	1	0	0	A	110784072	G	A	110784072	3	1	81	1	0	0	0	0	1	0	0	0	1136	1145	40	1	3004	1	ATP2A2	12	110784072	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	899	110784072	23067823	9929	13545											
ARPC3	10094	broad.mit.edu	37	12	110874914	110874914	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:110874914G>T	ENST00000228825.7	-	4	373	c.227C>A	c.(226-228)tCt>tAt	p.S76Y	RP11-478C19.2_ENST00000550231.1_RNA	NM_001278556.1|NM_005719.2	NP_001265485.1|NP_005710.1	O15145	ARPC3_HUMAN	actin related protein 2/3 complex, subunit 3, 21kDa	76					cellular component movement|regulation of actin filament polymerization	Arp2/3 protein complex|cytoplasm	actin binding|structural constituent of cytoskeleton			lung(1)|ovary(1)	2						CAGACATTCAGAAATGTAGAG	0.348													16	28					2.94398e-08	3.49414e-08	1	1	0	T	110874914	G	T	110874914	3	4	81	1	0	0	0	0	1	0	0	0	971	942	33	4	325	4	ARPC3	12	110874914	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	90842	110874914	22976981	9930	13546											
TCTN1	79600	broad.mit.edu	37	12	111066763	111066763	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:111066763A>C	ENST00000550703.2	+	4	820	c.664A>C	c.(664-666)Aat>Cat	p.N222H	TCTN1_ENST00000551555.2_Intron|HVCN1_ENST00000548312.1_Intron|TCTN1_ENST00000397659.4_Intron|TCTN1_ENST00000377654.3_Intron|TCTN1_ENST00000551590.1_Intron|TCTN1_ENST00000397655.3_Intron			Q2MV58	TECT1_HUMAN	tectonic family member 1	0					multicellular organismal development	extracellular region				NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(9)|urinary_tract(1)	15						TCCCATCACAAATATCTTTCC	0.353													3	36					0	0	1	0	0	C	111066763	A	C	111066763	3	2	81	1	0	0	0	0	1	0	0	0	15781	29	1	5		5	TCTN1	12	111066763	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	191849	111066763	22785132	9931	13547											
HVCN1	84329	broad.mit.edu	37	12	111099218	111099218	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:111099218C>A	ENST00000356742.5	-	3	810	c.57G>T	c.(55-57)gaG>gaT	p.E19D	HVCN1_ENST00000548312.1_Missense_Mutation_p.E19D|HVCN1_ENST00000242607.8_Missense_Mutation_p.E19D|HVCN1_ENST00000439744.2_5'UTR			Q96D96	HVCN1_HUMAN	hydrogen voltage-gated channel 1	19					response to pH|response to zinc ion	integral to membrane	voltage-gated proton channel activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	19						TGCTCATCCTCTCAGCGGGAG	0.577													4	35					0.014758	0.0152304	1	1	0	A	111099218	C	A	111099218	3	1	81	1	0	0	0	0	1	0	0	0	7506	912	32	4	784	4	HVCN1	12	111099218	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	32455	111099218	22752677	9932	13548											
MYL2	4633	broad.mit.edu	37	12	111352092	111352092	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:111352092G>A	ENST00000228841.8	-	4	219	c.172C>T	c.(172-174)Cga>Tga	p.R58*	MYL2_ENST00000548438.1_Nonsense_Mutation_p.R44*	NM_000432.3	NP_000423.2	P10916	MLRV_HUMAN	myosin, light chain 2, regulatory, cardiac, slow	58	EF-hand 1.		R -> Q (in CMH10; dbSNP:rs28933099).		cardiac myofibril assembly|heart contraction|muscle filament sliding|negative regulation of cell growth|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	cytosol|myosin complex|sarcomere	actin monomer binding|calcium ion binding|myosin heavy chain binding|structural constituent of muscle			endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)	12						ACGTTCACTCGCCCTAGGGTA	0.453													8	28					0	0	1	0	0	A	111352092	G	A	111352092	4	1	81	1	0	0	0	0	0	1	0	0	10095	1095	38	1	344	1	MYL2	12	111352092	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	252874	111352092	22499803	9933	13549											
CUX2	23316	broad.mit.edu	37	12	111748382	111748382	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:111748382G>A	ENST00000261726.6	+	15	1950	c.1796G>A	c.(1795-1797)cGc>cAc	p.R599H		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	599						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						AAGCCCTGGCGCAAGCTCACG	0.607													6	68					0	0	1	0	0	A	111748382	G	A	111748382	3	1	81	1	0	0	0	0	1	0	0	0	4088	1087	38	1	1854	1	CUX2	12	111748382	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	396290	111748382	22103513	9934	13550											
CUX2	23316	broad.mit.edu	37	12	111785522	111785522	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:111785522G>T	ENST00000261726.6	+	22	4008	c.3854G>T	c.(3853-3855)aGc>aTc	p.S1285I		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	1285						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						GAGGAGAACAGCACACCCCTG	0.617													12	14					5.50884e-06	6.24461e-06	1	1	0	T	111785522	G	T	111785522	3	4	81	1	0	0	0	0	1	0	0	0	4088	971	34	4	3940	4	CUX2	12	111785522	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	37140	111785522	22066373	9935	13551											
CUX2	23316	broad.mit.edu	37	12	111785894	111785894	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:111785894C>A	ENST00000261726.6	+	22	4380	c.4226C>A	c.(4225-4227)tCt>tAt	p.S1409Y		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	1409	Pro-rich.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						CTCATGATGTCTGTGTCACCT	0.627													4	33					0.150653	0.152522	1	1	0	A	111785894	C	A	111785894	3	1	81	1	0	0	0	0	1	0	0	0	4088	913	32	4	4312	4	CUX2	12	111785894	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	372	111785894	22066001	9936	13552											
ACAD10	80724	broad.mit.edu	37	12	112174796	112174796	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:112174796C>T	ENST00000455480.2	+	13	1972	c.1795C>T	c.(1795-1797)Cga>Tga	p.R599*	ACAD10_ENST00000313698.4_Nonsense_Mutation_p.R568*|ACAD10_ENST00000413681.3_3'UTR|ACAD10_ENST00000549590.1_Nonsense_Mutation_p.R568*|ACAD10_ENST00000392636.2_Nonsense_Mutation_p.R170*	NM_001136538.1	NP_001130010.1	Q6JQN1	ACD10_HUMAN	acyl-CoA dehydrogenase family, member 10	568							acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5)	47						AGTCTACAAGCGATCACTCAC	0.552													20	37					0	0	1	0	0	T	112174796	C	T	112174796	4	4	81	1	0	0	0	0	0	1	0	0	108	760	27	1	1841	1	ACAD10	12	112174796	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	388902	112174796	21677099	9937	13553											
ACAD10	80724	broad.mit.edu	37	12	112184890	112184890	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:112184890A>G	ENST00000455480.2	+	16	2564	c.2387A>G	c.(2386-2388)gAg>gGg	p.E796G	ACAD10_ENST00000313698.4_Missense_Mutation_p.E765G|ACAD10_ENST00000413681.3_3'UTR|ACAD10_ENST00000392636.2_Missense_Mutation_p.E367G	NM_001136538.1	NP_001130010.1	Q6JQN1	ACD10_HUMAN	acyl-CoA dehydrogenase family, member 10	765							acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5)	47						GGCAACATGGAGCTGCTGGTG	0.547													3	50					0	0	1	0	0	G	112184890	A	G	112184890	3	3	81	1	0	0	0	0	1	0	0	0	108	304	11	3	2445	3	ACAD10	12	112184890	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	10094	112184890	21667005	9938	13554											
ALDH2	217	broad.mit.edu	37	12	112229905	112229905	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:112229905T>C	ENST00000261733.2	+	8	897	c.836T>C	c.(835-837)cTc>cCc	p.L279P	ALDH2_ENST00000416293.3_Missense_Mutation_p.L232P	NM_000690.3	NP_000681.2	P05091	ALDH2_HUMAN	aldehyde dehydrogenase 2 family (mitochondrial)	279					carbohydrate metabolic process|ethanol oxidation|neurotransmitter biosynthetic process|xenobiotic metabolic process	mitochondrial matrix	aldehyde dehydrogenase|aldehyde dehydrogenase (NAD) activity|electron carrier activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|stomach(1)	22					Disulfiram(DB00822)|Guanidine(DB00536)|NADH(DB00157)|Nitroglycerin(DB00727)	AGCAGCAACCTCAAGAGAGTG	0.557			T	HMGA2	leiomyoma								3	54					0	0	1	0	0	C	112229905	T	C	112229905	3	2	81	1	0	0	0	0	1	0	0	0	493	1551	54	3	866	3	ALDH2	12	112229905	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	45015	112229905	21621990	9939	13555											
NAA25	80018	broad.mit.edu	37	12	112481451	112481451	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:112481451C>T	ENST00000261745.4	-	18	2476	c.2228G>A	c.(2227-2229)cGa>cAa	p.R743Q		NM_024953.3	NP_079229.2	Q14CX7	NAA25_HUMAN	N(alpha)-acetyltransferase 25, NatB auxiliary subunit	743						cytoplasm	protein binding			autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	46						CTCAATAAATCGCTTTCCTGT	0.413													26	52					0	0	1	0	0	T	112481451	C	T	112481451	3	4	81	1	0	0	0	0	1	0	0	0	10169	884	31	1	718	1	NAA25	12	112481451	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	251546	112481451	21370444	9940	13556											
NAA25	80018	broad.mit.edu	37	12	112506731	112506731	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:112506731C>A	ENST00000261745.4	-	11	1350	c.1102G>T	c.(1102-1104)Gac>Tac	p.D368Y		NM_024953.3	NP_079229.2	Q14CX7	NAA25_HUMAN	N(alpha)-acetyltransferase 25, NatB auxiliary subunit	368						cytoplasm	protein binding			autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	46						ACCTTAAGGTCTGTAAAACAA	0.373													6	66					0.00198382	0.00209725	1	1	0	A	112506731	C	A	112506731	3	1	81	1	0	0	0	0	1	0	0	0	10169	913	32	4	1872	4	NAA25	12	112506731	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	25280	112506731	21345164	9941	13557											
NAA25	80018	broad.mit.edu	37	12	112509781	112509781	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:112509781G>A	ENST00000261745.4	-	10	1202	c.954C>T	c.(952-954)cgC>cgT	p.R318R		NM_024953.3	NP_079229.2	Q14CX7	NAA25_HUMAN	N(alpha)-acetyltransferase 25, NatB auxiliary subunit	318						cytoplasm	protein binding			autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	46						CTCGGAGATGGCGAGAACTTT	0.403													4	45					0	0	1	0	0	A	112509781	G	A	112509781	2	1	81	1	0	0	0	0	0	0	0	1	10169	1190	42	2		2	NAA25	12	112509781	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	3050	112509781	21342114	9942	13558											
NAA25	80018	broad.mit.edu	37	12	112518933	112518933	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:112518933G>A	ENST00000261745.4	-	5	656	c.408C>T	c.(406-408)ggC>ggT	p.G136G		NM_024953.3	NP_079229.2	Q14CX7	NAA25_HUMAN	N(alpha)-acetyltransferase 25, NatB auxiliary subunit	136						cytoplasm	protein binding			autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	46						ATAGAGCCATGCCAGCCTAAA	0.373													22	177					0	0	1	0	0	A	112518933	G	A	112518933	2	1	81	1	0	0	0	0	0	0	0	1	10169	1306	46	2		2	NAA25	12	112518933	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	9152	112518933	21332962	9943	13559											
NAA25	80018	broad.mit.edu	37	12	112528603	112528603	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:112528603C>A	ENST00000261745.4	-	3	458	c.210G>T	c.(208-210)gaG>gaT	p.E70D		NM_024953.3	NP_079229.2	Q14CX7	NAA25_HUMAN	N(alpha)-acetyltransferase 25, NatB auxiliary subunit	70						cytoplasm	protein binding			autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	46						GGGCTGCCACCTCCTGTGCAA	0.413													49	98					9.22156e-22	1.20882e-21	1	1	0	A	112528603	C	A	112528603	3	1	81	1	0	0	0	0	1	0	0	0	10169	680	24	4	2796	4	NAA25	12	112528603	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	9670	112528603	21323292	9944	13560											
TRAFD1	10906	broad.mit.edu	37	12	112572608	112572608	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:112572608G>A	ENST00000257604.5	+	3	731	c.114G>A	c.(112-114)atG>atA	p.M38I	TRAFD1_ENST00000412615.2_Missense_Mutation_p.M38I	NM_001143906.1	NP_001137378.1	O14545	TRAD1_HUMAN	TRAF-type zinc finger domain containing 1	38					negative regulation of innate immune response	intracellular	protein binding|zinc ion binding			kidney(5)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	17						ACATTGGTATGTGTCCTACCT	0.408													10	124					0	0	1	0	0	A	112572608	G	A	112572608	3	1	81	1	0	0	0	0	1	0	0	0	16508	1377	48	2	120	2	TRAFD1	12	112572608	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	44005	112572608	21279287	9945	13561											
TRAFD1	10906	broad.mit.edu	37	12	112579001	112579001	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:112579001G>A	ENST00000257604.5	+	5	1233	c.616G>A	c.(616-618)Gcc>Acc	p.A206T	TRAFD1_ENST00000412615.2_Missense_Mutation_p.A206T	NM_001143906.1	NP_001137378.1	O14545	TRAD1_HUMAN	TRAF-type zinc finger domain containing 1	206					negative regulation of innate immune response	intracellular	protein binding|zinc ion binding			kidney(5)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	17						GAACATTACAGCCCAGGTTTC	0.483													28	35					0	0	1	0	0	A	112579001	G	A	112579001	3	1	81	1	0	0	0	0	1	0	0	0	16508	971	34	2	630	2	TRAFD1	12	112579001	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	6393	112579001	21272894	9946	13562											
RPL6	6128	broad.mit.edu	37	12	112843140	112843140	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:112843140G>T	ENST00000424576.2	-	7	940	c.755C>A	c.(754-756)gCt>gAt	p.A252D	RPL6_ENST00000202773.9_Missense_Mutation_p.A252D	NM_001024662.1	NP_001019833.1	Q02878	RL6_HUMAN	ribosomal protein L6	252				AVDSQILPKIKAIPQLQ -> LWTHKFYQKSKLFLSSS (in Ref. 1; CAA49188).	endocrine pancreas development|regulation of transcription, DNA-dependent|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	DNA binding|RNA binding|structural constituent of ribosome			cervix(1)|large_intestine(6)|lung(3)	10						TGAGTCCACAGCTTTCTGATC	0.378													14	30					2.61681e-11	3.23796e-11	1	1	0	T	112843140	G	T	112843140	3	4	81	1	0	0	0	0	1	0	0	0	13650	971	34	4	115	4	RPL6	12	112843140	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	264139	112843140	21008755	9947	13563											
PTPN11	5781	broad.mit.edu	37	12	112919928	112919928	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:112919928C>T	ENST00000351677.2	+	10	1341	c.1143C>T	c.(1141-1143)ggC>ggT	p.G381G	PTPN11_ENST00000392597.1_Silent_p.G381G	NM_002834.3	NP_002825.3	Q06124	PTN11_HUMAN	protein tyrosine phosphatase, non-receptor type 11	381	Tyrosine-protein phosphatase.				axon guidance|cell junction assembly|ephrin receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|platelet activation|regulation of cell adhesion mediated by integrin|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway	cytosol	non-membrane spanning protein tyrosine phosphatase activity|protein binding			NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(406)|kidney(2)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(3)|stomach(3)	451						AAGAATATGGCGTCATGCGTG	0.368			Mis		"JMML, AML, MDS"		Noonan Syndrome		Noonan syndrome				20	37					0	0	1	0	0	T	112919928	C	T	112919928	2	4	81	1	0	0	0	0	0	0	0	1	12830	755	27	1		1	PTPN11	12	112919928	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	76788	112919928	20931967	9948	13564											
PTPN11	5781	broad.mit.edu	37	12	112926976	112926976	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:112926976G>A	ENST00000351677.2	+	13	1794	c.1596G>A	c.(1594-1596)gaG>gaA	p.E532E		NM_002834.3	NP_002825.3	Q06124	PTN11_HUMAN	protein tyrosine phosphatase, non-receptor type 11	536					axon guidance|cell junction assembly|ephrin receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|platelet activation|regulation of cell adhesion mediated by integrin|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway	cytosol	non-membrane spanning protein tyrosine phosphatase activity|protein binding			NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(406)|kidney(2)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(3)|stomach(3)	451						TTGAAGAAGAGCAGGTACCAG	0.502			Mis		"JMML, AML, MDS"		Noonan Syndrome		Noonan syndrome				8	131					0	0	1	0	0	A	112926976	G	A	112926976	2	1	81	1	0	0	0	0	0	0	0	1	12830	962	34	2		2	PTPN11	12	112926976	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	7048	112926976	20924919	9949	13565											
RASAL1	8437	broad.mit.edu	37	12	113553534	113553534	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:113553534C>A	ENST00000546530.1	-	11	1194	c.909G>T	c.(907-909)caG>caT	p.Q303H	RASAL1_ENST00000418411.2_5'UTR|RASAL1_ENST00000446861.3_Missense_Mutation_p.Q303H|RASAL1_ENST00000261729.5_Missense_Mutation_p.Q303H|RASAL1_ENST00000548055.1_Missense_Mutation_p.Q303H	NM_001193520.1|NM_004658.2	NP_001180449.1|NP_004649.2	O95294	RASL1_HUMAN	RAS protein activator like 1 (GAP1 like)	303	Ras-GAP.				intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	metal ion binding|phospholipid binding|Ras GTPase activator activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2)	43						TGGCAAGGTCCTGGCGGCAGT	0.637													11	43					4.3838e-07	5.09097e-07	1	1	0	A	113553534	C	A	113553534	3	1	81	1	0	0	0	0	1	0	0	0	13115	680	24	4	1553	4	RASAL1	12	113553534	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	626558	113553534	20298361	9950	13566											
RASAL1	8437	broad.mit.edu	37	12	113554924	113554924	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:113554924C>A	ENST00000546530.1	-	9	970	c.685G>T	c.(685-687)Ggc>Tgc	p.G229C	RASAL1_ENST00000418411.2_5'UTR|RASAL1_ENST00000446861.3_Missense_Mutation_p.G229C|RASAL1_ENST00000261729.5_Missense_Mutation_p.G229C|RASAL1_ENST00000548055.1_Missense_Mutation_p.G229C	NM_001193520.1|NM_004658.2	NP_001180449.1|NP_004649.2	O95294	RASL1_HUMAN	RAS protein activator like 1 (GAP1 like)	229					intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	metal ion binding|phospholipid binding|Ras GTPase activator activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2)	43						CGGAACCAGCCTTTAGGTGGC	0.637													22	29					1.10923e-09	1.34443e-09	1	1	0	A	113554924	C	A	113554924	3	1	81	1	0	0	0	0	1	0	0	0	13115	681	24	4	1785	4	RASAL1	12	113554924	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1390	113554924	20296971	9951	13567											
DDX54	79039	broad.mit.edu	37	12	113600941	113600941	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:113600941G>A	ENST00000314045.7	-	16	2104	c.2077C>T	c.(2077-2079)Cgg>Tgg	p.R693W	DDX54_ENST00000306014.5_Missense_Mutation_p.R693W	NM_001111322.1	NP_001104792.1	Q8TDD1	DDX54_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 54	693			R -> Q (in dbSNP:rs11564).		estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nucleolus	ATP binding|ATP-dependent RNA helicase activity|estrogen receptor binding|RNA binding|transcription corepressor activity			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						ACTCACCCCCGCTCGCTGTCA	0.642													11	19					0	0	1	0	0	A	113600941	G	A	113600941	3	1	81	1	0	0	0	0	1	0	0	0	4395	1086	38	1	591	1	DDX54	12	113600941	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	46017	113600941	20250954	9952	13568											
DDX54	79039	broad.mit.edu	37	12	113618863	113618863	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:113618863G>T	ENST00000314045.7	-	2	202	c.175C>A	c.(175-177)Ctg>Atg	p.L59M	DDX54_ENST00000306014.5_Splice_Site_p.L59M	NM_001111322.1	NP_001104792.1	Q8TDD1	DDX54_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 54	59					estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nucleolus	ATP binding|ATP-dependent RNA helicase activity|estrogen receptor binding|RNA binding|transcription corepressor activity			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						CCAGGTCCCAGCTGGGAGGGA	0.637													4	42					0.000602214	0.000646338	1	1	0	T	113618863	G	T	113618863	5	4	81	1	0	0	0	0	0	0	1	0	4395	985	34	4	2549	4	DDX54	12	113618863	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	17922	113618863	20233032	9953	13569											
C12orf52	84934	broad.mit.edu	37	12	113629341	113629341	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:113629341G>A	ENST00000548278.1	+	4	1221	c.529G>A	c.(529-531)Gcg>Acg	p.A177T	RP11-545P7.4_ENST00000552525.1_RNA|C12orf52_ENST00000552495.1_Missense_Mutation_p.A201T|C12orf52_ENST00000549621.1_Missense_Mutation_p.A177T	NM_032848.1	NP_116237.1	Q96K30	RITA_HUMAN	chromosome 12 open reading frame 52	177	Interaction with tubulin.				negative regulation of Notch signaling pathway|negative regulation of transcription from RNA polymerase II promoter|neurogenesis|Notch signaling pathway|nuclear export	centrosome|nucleus	tubulin binding			large_intestine(2)|lung(1)|prostate(1)|urinary_tract(1)	5						GCCGGGGCCAGCGGCAGACTC	0.647													4	28					0	0	1	0	0	A	113629341	G	A	113629341	3	1	81	1	0	0	0	0	1	0	0	0	1703	971	34	2	535	2	C12orf52	12	113629341	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	10478	113629341	20222554	9954	13570											
IQCD	115811	broad.mit.edu	37	12	113633583	113633583	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:113633583G>A	ENST00000416617.2	-	5	1337	c.1147C>T	c.(1147-1149)Cgg>Tgg	p.R383W	IQCD_ENST00000299732.2_Missense_Mutation_p.R281W			Q96DY2	IQCD_HUMAN	IQ motif containing D	383										endometrium(2)|large_intestine(4)|lung(1)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	12						TTGATCTCCCGCTCTTCCCGG	0.597													36	51					0	0	1	0	0	A	113633583	G	A	113633583	3	1	81	1	0	0	0	0	1	0	0	0	7849	1086	38	1	206	1	IQCD	12	113633583	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	4242	113633583	20218312	9955	13571											
IQCD	115811	broad.mit.edu	37	12	113645772	113645772	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:113645772G>A	ENST00000546692.1	-	2	573	c.200C>T	c.(199-201)aCc>aTc	p.T67I	IQCD_ENST00000299732.2_Missense_Mutation_p.T67I|IQCD_ENST00000416617.2_Missense_Mutation_p.T67I			Q96DY2	IQCD_HUMAN	IQ motif containing D	67										endometrium(2)|large_intestine(4)|lung(1)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	12						CGACAGCAAGGTCACCAGCTC	0.537													53	94					0	0	1	0	0	A	113645772	G	A	113645772	3	1	81	1	0	0	0	0	1	0	0	0	7849	1261	44	2	851	2	IQCD	12	113645772	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	12189	113645772	20206123	9956	13572											
TPCN1	53373	broad.mit.edu	37	12	113714766	113714766	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:113714766C>T	ENST00000550785.1	+	12	1370	c.1201C>T	c.(1201-1203)Cgc>Tgc	p.R401C	TPCN1_ENST00000335509.6_Missense_Mutation_p.R329C|TPCN1_ENST00000541517.1_Missense_Mutation_p.R401C|TPCN1_ENST00000392569.4_Missense_Mutation_p.R261C	NM_001143819.1	NP_001137291.1	Q9ULQ1	TPC1_HUMAN	two pore segment channel 1	329						endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated ion channel activity			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1)	40						CATTGAGAAACGCAAGTTCAA	0.557													82	145					0	0	1	0	0	T	113714766	C	T	113714766	3	4	81	1	0	0	0	0	1	0	0	0	16456	536	19	1	1243	1	TPCN1	12	113714766	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	68994	113714766	20137129	9957	13573											
TPCN1	53373	broad.mit.edu	37	12	113724881	113724881	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:113724881G>A	ENST00000550785.1	+	20	2001	c.1832G>A	c.(1831-1833)cGc>cAc	p.R611H	TPCN1_ENST00000335509.6_Missense_Mutation_p.R539H|TPCN1_ENST00000541517.1_Missense_Mutation_p.R611H|TPCN1_ENST00000392569.4_Missense_Mutation_p.R471H	NM_001143819.1	NP_001137291.1	Q9ULQ1	TPC1_HUMAN	two pore segment channel 1	539						endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated ion channel activity			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1)	40						GTGGTCCTGCGCCCCCTCCAG	0.612													34	54					0	0	1	0	0	A	113724881	G	A	113724881	3	1	81	1	0	0	0	0	1	0	0	0	16456	1087	38	1	1906	1	TPCN1	12	113724881	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	10115	113724881	20127014	9958	13574											
TPCN1	53373	broad.mit.edu	37	12	113726600	113726600	+	Missense_Mutation	SNP	G	G	A	rs147435178		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:113726600G>A	ENST00000550785.1	+	22	2129	c.1960G>A	c.(1960-1962)Gcc>Acc	p.A654T	TPCN1_ENST00000335509.6_Missense_Mutation_p.A582T|TPCN1_ENST00000541517.1_Missense_Mutation_p.A654T|TPCN1_ENST00000392569.4_Missense_Mutation_p.A514T	NM_001143819.1	NP_001137291.1	Q9ULQ1	TPC1_HUMAN	two pore segment channel 1	582						endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated ion channel activity			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1)	40						CTACTCCTTCGCCATCGTGGG	0.657													7	118					0	0	1	0	0	A	113726600	G	A	113726600	3	1	81	1	0	0	0	0	1	0	0	0	16456	1087	38	1	2042	1	TPCN1	12	113726600	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1719	113726600	20125295	9959	13575											
SDSL	113675	broad.mit.edu	37	12	113873266	113873266	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:113873266G>T	ENST00000403593.4	+	6	838	c.576G>T	c.(574-576)caG>caT	p.Q192H	SDSL_ENST00000345635.4_Missense_Mutation_p.Q192H			Q96GA7	SDSL_HUMAN	serine dehydratase-like	192					cellular amino acid metabolic process		L-serine ammonia-lyase activity|L-threonine ammonia-lyase activity|pyridoxal phosphate binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)	15					Pyridoxal Phosphate(DB00114)	TGGGCTGGCAGCATGTACCCA	0.647													4	55					0.150653	0.152522	1	1	0	T	113873266	G	T	113873266	3	4	81	1	0	0	0	0	1	0	0	0	14030	962	34	4	594	4	SDSL	12	113873266	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	146666	113873266	19978629	9960	13576											
RBM19	9904	broad.mit.edu	37	12	114352798	114352798	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:114352798C>T	ENST00000545145.2	-	21	2612	c.2534G>A	c.(2533-2535)aGc>aAc	p.S845N	RBM19_ENST00000392561.3_Missense_Mutation_p.S845N|RBM19_ENST00000261741.5_Missense_Mutation_p.S845N	NM_001146699.1	NP_001140171.1	Q9Y4C8	RBM19_HUMAN	RNA binding motif protein 19	845	RRM 6.				multicellular organismal development|positive regulation of embryonic development	chromosome|cytoplasm|nucleolus|nucleoplasm	nucleotide binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4)	55	Medulloblastoma(191;0.163)|all_neural(191;0.178)					GATCTCCCGGCTGTGGGCCTG	0.602													40	91					0	0	1	0	0	T	114352798	C	T	114352798	3	4	81	1	0	0	0	0	1	0	0	0	13173	797	28	2	364	2	RBM19	12	114352798	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	479532	114352798	19499097	9961	13577											
RBM19	9904	broad.mit.edu	37	12	114383697	114383697	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:114383697G>A	ENST00000545145.2	-	13	1640	c.1562C>T	c.(1561-1563)cCg>cTg	p.P521L	RBM19_ENST00000392561.3_Missense_Mutation_p.P521L|RBM19_ENST00000261741.5_Missense_Mutation_p.P521L	NM_001146699.1	NP_001140171.1	Q9Y4C8	RBM19_HUMAN	RNA binding motif protein 19	521					multicellular organismal development|positive regulation of embryonic development	chromosome|cytoplasm|nucleolus|nucleoplasm	nucleotide binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4)	55	Medulloblastoma(191;0.163)|all_neural(191;0.178)					CACGGCATTCGGCCCCATGAA	0.562													14	16					0	0	1	0	0	A	114383697	G	A	114383697	3	1	81	1	0	0	0	0	1	0	0	0	13173	1116	39	1	1368	1	RBM19	12	114383697	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	30899	114383697	19468198	9962	13578											
MED13L	23389	broad.mit.edu	37	12	116403926	116403926	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:116403926C>T	ENST00000281928.3	-	29	6554	c.6348G>A	c.(6346-6348)tcG>tcA	p.S2116S		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	2116					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent					NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		CCTGGGGACACGATGACCAAA	0.453													50	94					0	0	1	0	0	T	116403926	C	T	116403926	2	4	81	1	0	0	0	0	0	0	0	1	9481	523	19	1		1	MED13L	12	116403926	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2020229	116403926	17447969	9963	13579											
MED13L	23389	broad.mit.edu	37	12	116413074	116413074	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:116413074T>C	ENST00000281928.3	-	25	5839	c.5633A>G	c.(5632-5634)aAg>aGg	p.K1878R		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	1878					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent					NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		CTCCCATAACTTCTGTAGTCC	0.463													8	52					0	0	1	0	0	C	116413074	T	C	116413074	3	2	81	1	0	0	0	0	1	0	0	0	9481	1609	56	3	1027	3	MED13L	12	116413074	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	9148	116413074	17438821	9964	13580											
MED13L	23389	broad.mit.edu	37	12	116413113	116413113	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:116413113C>T	ENST00000281928.3	-	25	5800	c.5594G>A	c.(5593-5595)cGg>cAg	p.R1865Q		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	1865					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent					NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		TTTACTCCTCCGTGACCTAAC	0.403													5	51					0	0	1	0	0	T	116413113	C	T	116413113	3	4	81	1	0	0	0	0	1	0	0	0	9481	652	23	1	1066	1	MED13L	12	116413113	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	39	116413113	17438782	9965	13581											
MED13L	23389	broad.mit.edu	37	12	116418589	116418589	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:116418589G>A	ENST00000281928.3	-	23	5536	c.5330C>T	c.(5329-5331)gCa>gTa	p.A1777V		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	1777					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent					NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		AATGCTGGCTGCAGGCCCAAA	0.443													35	100					0	0	1	0	0	A	116418589	G	A	116418589	3	1	81	1	0	0	0	0	1	0	0	0	9481	1319	46	2	1338	2	MED13L	12	116418589	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	5476	116418589	17433306	9966	13582											
MED13L	23389	broad.mit.edu	37	12	116421083	116421083	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:116421083C>A	ENST00000281928.3	-	21	5000	c.4794G>T	c.(4792-4794)caG>caT	p.Q1598H		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	1598	Ser-rich.				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent					NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		TAGTGCTTATCTGGCTAATAC	0.517													5	36					0.184627	0.18622	1	1	0	A	116421083	C	A	116421083	3	1	81	1	0	0	0	0	1	0	0	0	9481	912	32	4	1882	4	MED13L	12	116421083	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2494	116421083	17430812	9967	13583											
MED13L	23389	broad.mit.edu	37	12	116422120	116422120	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:116422120G>A	ENST00000281928.3	-	20	4602	c.4396C>T	c.(4396-4398)Cgc>Tgc	p.R1466C		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	1466					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent					NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		TTTCCCACGCGCATGATCCCG	0.488													15	20					0	0	1	0	0	A	116422120	G	A	116422120	3	1	81	1	0	0	0	0	1	0	0	0	9481	1087	38	1	2284	1	MED13L	12	116422120	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1037	116422120	17429775	9968	13584											
MED13L	23389	broad.mit.edu	37	12	116425028	116425028	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:116425028G>A	ENST00000281928.3	-	18	4206	c.4000C>T	c.(4000-4002)Ctc>Ttc	p.L1334F		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	1334					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent					NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		GCATCTTGGAGAAAGGGCTGC	0.527													15	32					0	0	1	0	0	A	116425028	G	A	116425028	3	1	81	1	0	0	0	0	1	0	0	0	9481	942	33	2	2688	2	MED13L	12	116425028	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2908	116425028	17426867	9969	13585											
MED13L	23389	broad.mit.edu	37	12	116444176	116444176	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:116444176C>T	ENST00000281928.3	-	12	2485	c.2279G>A	c.(2278-2280)gGt>gAt	p.G760D		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	760					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent					NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		CGTGGAATGACCTGGTGTAGT	0.408													25	45					0	0	1	0	0	T	116444176	C	T	116444176	3	4	81	1	0	0	0	0	1	0	0	0	9481	507	18	2	4433	2	MED13L	12	116444176	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	19148	116444176	17407719	9970	13586											
MED13L	23389	broad.mit.edu	37	12	116457747	116457747	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:116457747G>A	ENST00000281928.3	-	6	862	c.656C>T	c.(655-657)aCg>aTg	p.T219M		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	219					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent					NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		GCCTGTTAGCGTCCCATTTAA	0.408													11	44					0	0	1	0	0	A	116457747	G	A	116457747	3	1	81	1	0	0	0	0	1	0	0	0	9481	1145	40	1	6080	1	MED13L	12	116457747	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	13571	116457747	17394148	9971	13587											
MED13L	23389	broad.mit.edu	37	12	116675279	116675279	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:116675279G>A	ENST00000281928.3	-	2	510	c.304C>T	c.(304-306)Ctg>Ttg	p.L102L	MED13L_ENST00000551197.1_5'UTR	NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	102					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent					NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		TTACCCTGCAGTTCATGATGT	0.343													29	36					0	0	1	0	0	A	116675279	G	A	116675279	2	1	81	1	0	0	0	0	0	0	0	1	9481	1020	36	2		2	MED13L	12	116675279	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	217532	116675279	17176616	9972	13588											
FBXW8	26259	broad.mit.edu	37	12	117461972	117461972	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:117461972G>A	ENST00000455858.2	+	9	1263	c.1190G>A	c.(1189-1191)cGc>cAc	p.R397H	FBXW8_ENST00000309909.5_Missense_Mutation_p.R463H	NM_012174.1|NM_153348.2	NP_036306.1|NP_699179.2	Q8N3Y1	FBXW8_HUMAN	F-box and WD repeat domain containing 8	463							protein binding			endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	22	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0353)		CACGACCTCCGCAGTGGTAAC	0.582													4	39					0	0	1	0	0	A	117461972	G	A	117461972	3	1	81	1	0	0	0	0	1	0	0	0	5803	1087	38	1	1422	1	FBXW8	12	117461972	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	786693	117461972	16389923	9973	13589											
NOS1	4842	broad.mit.edu	37	12	117655919	117655919	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:117655919G>A	ENST00000317775.6	-	28	4906	c.4221C>T	c.(4219-4221)taC>taT	p.Y1407Y	NOS1_ENST00000344089.3_3'UTR|NOS1_ENST00000338101.4_Silent_p.Y1441Y	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN	nitric oxide synthase 1 (neuronal)	1407				Y -> I (in Ref. 3; AAA36376).	multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	TGGTCACTTCGTACGTTCGCA	0.488													10	350					0	0	1	0	0	A	117655919	G	A	117655919	2	1	81	1	0	0	0	0	0	0	0	1	10588	1140	40	1		1	NOS1	12	117655919	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	193947	117655919	16195976	9974	13590											
NOS1	4842	broad.mit.edu	37	12	117669819	117669819	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:117669819G>A	ENST00000317775.6	-	22	4038	c.3353C>T	c.(3352-3354)gCc>gTc	p.A1118V	NOS1_ENST00000344089.3_3'UTR|NOS1_ENST00000338101.4_Missense_Mutation_p.A1152V	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN	nitric oxide synthase 1 (neuronal)	1118	FAD-binding FR-type.				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	AGCTAGGGAGGCAAACTGCTG	0.617													9	15					0	0	1	0	0	A	117669819	G	A	117669819	3	1	81	1	0	0	0	0	1	0	0	0	10588	1203	42	2	983	2	NOS1	12	117669819	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	13900	117669819	16182076	9975	13591											
NOS1	4842	broad.mit.edu	37	12	117768386	117768386	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:117768386G>A	ENST00000317775.6	-	2	1174	c.489C>T	c.(487-489)taC>taT	p.Y163Y	NOS1_ENST00000344089.3_Silent_p.Y163Y|NOS1_ENST00000338101.4_Silent_p.Y163Y	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN	nitric oxide synthase 1 (neuronal)	163	Interaction with NOSIP (By similarity).|PIN (nNOS-inhibiting protein) binding.				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	GCCCATCATCGTAGGCATGCT	0.682													30	43					0	0	1	0	0	A	117768386	G	A	117768386	2	1	81	1	0	0	0	0	0	0	0	1	10588	1140	40	1		1	NOS1	12	117768386	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	98567	117768386	16083509	9976	13592											
KSR2	283455	broad.mit.edu	37	12	117962776	117962776	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:117962776G>A	ENST00000425217.1	-	14	2067	c.2013C>T	c.(2011-2013)aaC>aaT	p.N671N	KSR2_ENST00000545002.1_5'UTR|KSR2_ENST00000339824.5_Silent_p.N700N|KSR2_ENST00000302438.5_Silent_p.N397N	NM_173598.4	NP_775869.3	Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	700	Protein kinase.				intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GCTGGTCCTCGTTGTCCCTCT	0.607													13	12					0	0	1	0	0	A	117962776	G	A	117962776	2	1	81	1	0	0	0	0	0	0	0	1	8621	1136	40	1		1	KSR2	12	117962776	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	194390	117962776	15889119	9977	13593											
KSR2	283455	broad.mit.edu	37	12	118199236	118199236	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:118199236G>A	ENST00000425217.1	-	4	533	c.479C>T	c.(478-480)cCg>cTg	p.P160L	KSR2_ENST00000339824.5_Missense_Mutation_p.P189L	NM_173598.4	NP_775869.3	Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	189					intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity	p.P221L(2)		NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GCGGATCCACGGGGTGGGCTC	0.637													6	43					0	0	1	0	0	A	118199236	G	A	118199236	3	1	81	1	0	0	0	0	1	0	0	0	8621	1116	39	1	2354	1	KSR2	12	118199236	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	236460	118199236	15652659	9978	13594											
WSB2	55884	broad.mit.edu	37	12	118481168	118481168	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:118481168A>G	ENST00000315436.3	-	3	338	c.197T>C	c.(196-198)tTt>tCt	p.F66S	WSB2_ENST00000536738.1_5'UTR|WSB2_ENST00000542304.1_5'UTR|WSB2_ENST00000441406.2_Missense_Mutation_p.F83S|WSB2_ENST00000544233.1_Intron|WSB2_ENST00000535496.1_Missense_Mutation_p.F68S	NM_001278557.1|NM_018639.3	NP_001265486.1|NP_061109.1	Q9NYS7	WSB2_HUMAN	WD repeat and SOCS box containing 2	66					intracellular signal transduction					breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TTTGGCTTCAAACCCTTTAGG	0.488													9	115					0	0	1	0	0	G	118481168	A	G	118481168	3	3	81	1	0	0	0	0	1	0	0	0	17465	14	1	3	1045	3	WSB2	12	118481168	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	281932	118481168	15370727	9979	13595											
TAOK3	51347	broad.mit.edu	37	12	118636871	118636871	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:118636871G>A	ENST00000392533.3	-	13	1669	c.1179C>T	c.(1177-1179)tcC>tcT	p.S393S	TAOK3_ENST00000419821.2_Silent_p.S393S	NM_016281.3	NP_057365.3	Q9H2K8	TAOK3_HUMAN	TAO kinase 3	393	Ser-rich.				MAPKKK cascade|negative regulation of JNK cascade|positive regulation of JNK cascade|protein autophosphorylation	mitochondrion|plasma membrane	ATP binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			central_nervous_system(1)|lung(5)|skin(1)	7	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TATGCACGACGGAGGAGCTGG	0.473													29	70					0	0	1	0	0	A	118636871	G	A	118636871	2	1	81	1	0	0	0	0	0	0	0	1	15606	1103	39	1		1	TAOK3	12	118636871	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	155703	118636871	15215024	9980	13596											
PRKAB1	5564	broad.mit.edu	37	12	120106187	120106187	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:120106187C>A	ENST00000229328.5	+	1	630	c.138C>A	c.(136-138)ctC>ctA	p.L46L	PRKAB1_ENST00000541640.1_Silent_p.L46L	NM_006253.4	NP_006244.2	Q9Y478	AAKB1_HUMAN	protein kinase, AMP-activated, beta 1 non-catalytic subunit	46					cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid oxidation	cytosol				endometrium(2)|large_intestine(3)|lung(5)	10	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.166)	Adenosine monophosphate(DB00131)|Metformin(DB00331)	ACGCCGACCTCTTCCACTCCG	0.612													4	19					0.150653	0.152522	1	1	0	A	120106187	C	A	120106187	2	1	81	1	0	0	0	0	0	0	0	1	12547	900	32	4		4	PRKAB1	12	120106187	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1469316	120106187	13745708	9981	13597											
CIT	11113	broad.mit.edu	37	12	120173114	120173114	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:120173114C>T	ENST00000392521.2	-	25	3062	c.3007G>A	c.(3007-3009)Gct>Act	p.A1003T	CIT_ENST00000537607.1_5'UTR|CIT_ENST00000261833.7_Missense_Mutation_p.A961T	NM_001206999.1	NP_001193928.1	O14578	CTRO_HUMAN	citron (rho-interacting, serine/threonine kinase 21)	961					intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		TTGAGTTCAGCGTTGTCCTCG	0.463													29	60					0	0	1	0	0	T	120173114	C	T	120173114	3	4	81	1	0	0	0	0	1	0	0	0	3461	768	27	1	3298	1	CIT	12	120173114	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	66927	120173114	13678781	9982	13598											
CCDC64	92558	broad.mit.edu	37	12	120436392	120436392	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:120436392G>A	ENST00000397558.2	+	2	497	c.497G>A	c.(496-498)cGa>cAa	p.R166Q		NM_207311.2	NP_997194.2	Q6ZP65	BICR1_HUMAN	coiled-coil domain containing 64	166					Golgi to secretory granule transport|neuron projection development	centrosome	dynactin binding|Rab GTPase binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	22	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TGGGAAGGCCGAGTGTCAGAG	0.488													11	21					0	0	1	0	0	A	120436392	G	A	120436392	3	1	81	1	0	0	0	0	1	0	0	0	2855	1058	37	1	503	1	CCDC64	12	120436392	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	263278	120436392	13415503	9983	13599											
GCN1L1	10985	broad.mit.edu	37	12	120567270	120567270	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:120567270C>A	ENST00000300648.6	-	57	7712	c.7700G>T	c.(7699-7701)aGg>aTg	p.R2567M		NM_006836.1	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	2567					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					AGCCACCAGCCTGATGTCGCT	0.527													11	151					3.07112e-06	3.5041e-06	1	1	0	A	120567270	C	A	120567270	3	1	81	1	0	0	0	0	1	0	0	0	6339	681	24	4	323	4	GCN1L1	12	120567270	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	130878	120567270	13284625	9984	13600											
GCN1L1	10985	broad.mit.edu	37	12	120613992	120613992	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:120613992C>T	ENST00000300648.6	-	10	879	c.867G>A	c.(865-867)acG>acA	p.T289T		NM_006836.1	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	289					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TGAGGTCAAGCGTCACTGATG	0.483													30	44					0	0	1	0	0	T	120613992	C	T	120613992	2	4	81	1	0	0	0	0	0	0	0	1	6339	755	27	1		1	GCN1L1	12	120613992	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	46722	120613992	13237903	9985	13601											
SIRT4	23409	broad.mit.edu	37	12	120741693	120741693	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:120741693T>C	ENST00000202967.4	+	2	388	c.329T>C	c.(328-330)tTc>tCc	p.F110S	SIRT4_ENST00000537892.1_3'UTR	NM_012240.2	NP_036372.1	Q9Y6E7	SIRT4_HUMAN	sirtuin 4	110	Deacetylase sirtuin-type.				chromatin silencing|negative regulation of insulin secretion|protein ADP-ribosylation|protein deacetylation	mitochondrial matrix	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|NAD+ ADP-ribosyltransferase activity|NAD+ binding|protein binding|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)	9	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GCGAGAAACTTCGTAGGCTGG	0.577													6	28					0	0	1	0	0	C	120741693	T	C	120741693	3	2	81	1	0	0	0	0	1	0	0	0	14395	1783	62	3	331	3	SIRT4	12	120741693	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	127701	120741693	13110202	9986	13602											
SIRT4	23409	broad.mit.edu	37	12	120750805	120750805	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:120750805G>A	ENST00000202967.4	+	4	970	c.911G>A	c.(910-912)tGt>tAt	p.C304Y	SIRT4_ENST00000537892.1_3'UTR	NM_012240.2	NP_036372.1	Q9Y6E7	SIRT4_HUMAN	sirtuin 4	304	Deacetylase sirtuin-type.				chromatin silencing|negative regulation of insulin secretion|protein ADP-ribosylation|protein deacetylation	mitochondrial matrix	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|NAD+ ADP-ribosyltransferase activity|NAD+ binding|protein binding|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)	9	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					AATTCTCGTTGTGGAGAGTTG	0.478													9	101					0	0	1	0	0	A	120750805	G	A	120750805	3	1	81	1	0	0	0	0	1	0	0	0	14395	1377	48	2	921	2	SIRT4	12	120750805	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	9112	120750805	13101090	9987	13603											
PLA2G1B	5319	broad.mit.edu	37	12	120762744	120762744	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:120762744G>T	ENST00000308366.4	-	3	350	c.315C>A	c.(313-315)acC>acA	p.T105T	PLA2G1B_ENST00000423423.3_Intron|PLA2G1B_ENST00000549767.1_Silent_p.T76T	NM_000928.2	NP_000919.1	P04054	PA21B_HUMAN	phospholipase A2, group IB (pancreas)	105					actin filament organization|activation of MAPK activity|activation of phospholipase A2 activity|arachidonic acid secretion|cellular response to insulin stimulus|glucose transport|interleukin-8 production|leukotriene biosynthetic process|multicellular organismal lipid catabolic process|neutrophil chemotaxis|neutrophil mediated immunity|phosphatidylcholine metabolic process|positive regulation of calcium ion transport into cytosol|positive regulation of DNA replication|positive regulation of immune response|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein secretion|positive regulation of transcription from RNA polymerase II promoter	extracellular space	bile acid binding|calcium ion binding|calcium-dependent phospholipase A2 activity|cell surface binding|receptor binding			endometrium(1)|large_intestine(1)|lung(3)|skin(2)	7	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TACTGCTACAGGTGATTGCCG	0.468											OREG0022189	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	82					0.00116845	0.00124301	1	1	0	T	120762744	G	T	120762744	2	4	81	1	0	0	0	0	0	0	0	1	12042	987	35	4		4	PLA2G1B	12	120762744	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	11939	120762744	13089151	9988	13604											
RNF10	9921	broad.mit.edu	37	12	120995185	120995185	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:120995185T>C	ENST00000325954.4	+	5	1207	c.746T>C	c.(745-747)aTc>aCc	p.I249T	RNF10_ENST00000413266.2_Missense_Mutation_p.I249T	NM_014868.4	NP_055683.3	Q8N5U6	RNF10_HUMAN	ring finger protein 10	249					negative regulation of Schwann cell proliferation|positive regulation of myelination|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|transcription regulatory region DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	27	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TGGGCATGCATCCTGCACTAT	0.468													9	125					0	0	1	0	0	C	120995185	T	C	120995185	3	2	81	1	0	0	0	0	1	0	0	0	13474	1435	50	3	764	3	RNF10	12	120995185	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	232441	120995185	12856710	9989	13605											
RNF10	9921	broad.mit.edu	37	12	120995485	120995485	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:120995485G>T	ENST00000325954.4	+	6	1428	c.967G>T	c.(967-969)Gat>Tat	p.D323Y	RNF10_ENST00000413266.2_Splice_Site_p.D323Y	NM_014868.4	NP_055683.3	Q8N5U6	RNF10_HUMAN	ring finger protein 10	323					negative regulation of Schwann cell proliferation|positive regulation of myelination|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|transcription regulatory region DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	27	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TCATCTAGGAGGTGAGTTCTT	0.428													11	118					2.27111e-07	2.65192e-07	1	1	0	T	120995485	G	T	120995485	5	4	81	1	0	0	0	0	0	0	1	0	13474	1014	35	4	989	4	RNF10	12	120995485	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	300	120995485	12856410	9990	13606											
CABP1	9478	broad.mit.edu	37	12	121098961	121098961	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:121098961G>T	ENST00000453000.1	+	5	1347	c.835G>T	c.(835-837)Gac>Tac	p.D279Y	CABP1_ENST00000351200.2_Missense_Mutation_p.D140Y|CABP1_ENST00000316803.3_Missense_Mutation_p.D343Y|CABP1_ENST00000288616.3_Missense_Mutation_p.D200Y			Q9NZU7	CABP1_HUMAN	calcium binding protein 1	343	EF-hand 2.					cell cortex|cell junction|Golgi apparatus|perinuclear region of cytoplasm|postsynaptic density|postsynaptic membrane	calcium ion binding|calcium-dependent protein binding|enzyme inhibitor activity|protein binding			central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(6)	9	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					GGGACACCGAGACATAGAGGA	0.527													5	75					0.00116845	0.00124301	1	1	0	T	121098961	G	T	121098961	3	4	81	1	0	0	0	0	1	0	0	0	2549	942	33	4	1278	4	CABP1	12	121098961	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	103476	121098961	12752934	9991	13607											
UNC119B	84747	broad.mit.edu	37	12	121154477	121154477	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:121154477C>T	ENST00000344651.4	+	3	445	c.405C>T	c.(403-405)agC>agT	p.S135S		NM_001080533.1	NP_001074002.1	A6NIH7	U119B_HUMAN	unc-119 homolog B (C. elegans)	135										breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)	9	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					TGGACATCAGCGCAGGACGTT	0.537													10	294					0	0	1	0	0	T	121154477	C	T	121154477	2	4	81	1	0	0	0	0	0	0	0	1	17043	767	27	1		1	UNC119B	12	121154477	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	55516	121154477	12697418	9992	13608											
C12orf43	64897	broad.mit.edu	37	12	121442055	121442055	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:121442055C>A	ENST00000445832.3	-	6	702	c.600G>T	c.(598-600)caG>caT	p.Q200H	C12orf43_ENST00000536407.2_3'UTR|C12orf43_ENST00000537817.1_Missense_Mutation_p.Q231H|C12orf43_ENST00000539736.1_Missense_Mutation_p.Q220H|C12orf43_ENST00000288757.3_Missense_Mutation_p.Q230H|C12orf43_ENST00000366211.2_Missense_Mutation_p.Q189H			Q96C57	CL043_HUMAN	chromosome 12 open reading frame 43	230	Lys-rich.									cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CAAGCGACACCTGGTCCCCGT	0.562													9	135					0.00829132	0.00865729	1	1	0	A	121442055	C	A	121442055	3	1	81	1	0	0	0	0	1	0	0	0	1695	680	24	4	102	4	C12orf43	12	121442055	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	287578	121442055	12409840	9993	13609											
OASL	8638	broad.mit.edu	37	12	121461853	121461853	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:121461853G>A	ENST00000339275.5	-	4	929	c.745C>T	c.(745-747)Cct>Tct	p.P249S	OASL_ENST00000257570.5_Silent_p.C329C	NM_198213.2	NP_937856.1	Q15646	OASL_HUMAN	2'-5'-oligoadenylate synthetase-like	0					interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoplasm|nucleolus	ATP binding|DNA binding|double-stranded RNA binding|thyroid hormone receptor binding|transferase activity			NS(1)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CCTGTTTCAGGCACTGGGAGG	0.572													22	37					0	0	1	0	0	A	121461853	G	A	121461853	3	1	81	1	0	0	0	0	1	0	0	0	10850	1204	42	2	565	2	OASL	12	121461853	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	19798	121461853	12390042	9994	13610											
OASL	8638	broad.mit.edu	37	12	121461900	121461900	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:121461900C>A	ENST00000257570.5	-	5	1210	c.940G>T	c.(940-942)Gca>Tca	p.A314S	OASL_ENST00000339275.5_Missense_Mutation_p.G233V	NM_003733.3	NP_003724.1	Q15646	OASL_HUMAN	2'-5'-oligoadenylate synthetase-like	314					interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoplasm|nucleolus	ATP binding|DNA binding|double-stranded RNA binding|thyroid hormone receptor binding|transferase activity			NS(1)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					TACCCTTCTGCCACGTTGAGG	0.557													14	36					6.72482e-11	8.27642e-11	1	1	0	A	121461900	C	A	121461900	3	1	81	1	0	0	0	0	1	0	0	0	10850	739	26	5	612	5	OASL	12	121461900	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	47	121461900	12389995	9995	13611											
P2RX7	5027	broad.mit.edu	37	12	121605290	121605290	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:121605290G>T	ENST00000328963.5	+	7	688		c.e7-1		P2RX7_ENST00000535250.1_Splice_Site|P2RX7_ENST00000546057.1_Splice_Site|P2RX7_ENST00000541446.1_Intron|P2RX7_ENST00000377162.2_Intron|P2RX7_ENST00000443520.3_Splice_Site			A8K2Z0	A8K2Z0_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 7							integral to membrane	ATP binding|ion channel activity|receptor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(9)|skin(1)|stomach(1)	19	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					TGATCCTTCAGGGCGGAATAA	0.512													7	97					0.000157383	0.000171784	1	1	0	T	121605290	G	T	121605290	5	4	81	1	0	0	0	0	0	0	1	0	11392	1014	35	4	774	4	P2RX7	12	121605290	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	143390	121605290	12246605	9996	13612											
CAMKK2	10645	broad.mit.edu	37	12	121706459	121706459	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:121706459G>A	ENST00000324774.5	-	5	1435	c.607C>T	c.(607-609)Cgg>Tgg	p.R203W	CAMKK2_ENST00000392474.2_Missense_Mutation_p.R203W|CAMKK2_ENST00000347034.2_Missense_Mutation_p.R203W|CAMKK2_ENST00000538733.1_Missense_Mutation_p.R203W|CAMKK2_ENST00000535524.1_Intron|CAMKK2_ENST00000404169.3_Missense_Mutation_p.R203W|CAMKK2_ENST00000402834.4_Missense_Mutation_p.R203W|CAMKK2_ENST00000446440.2_Missense_Mutation_p.R203W|CAMKK2_ENST00000392473.2_Missense_Mutation_p.R203W|CAMKK2_ENST00000412367.2_Missense_Mutation_p.R203W|CAMKK2_ENST00000337174.3_Missense_Mutation_p.R203W	NM_006549.3	NP_006540.3	Q96RR4	KKCC2_HUMAN	calcium/calmodulin-dependent protein kinase kinase 2, beta	203	Protein kinase.				calcium-mediated signaling|MAPKKK cascade|positive regulation of transcription, DNA-dependent|protein autophosphorylation|regulation of protein kinase activity	cytoplasm	ATP binding|calcium ion binding|calmodulin binding|calmodulin-dependent protein kinase activity|protein tyrosine kinase activity			endometrium(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	17	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CCGGCCTGCCGGATCAGCTTC	0.547													6	129					0	0	1	0	0	A	121706459	G	A	121706459	3	1	81	1	0	0	0	0	1	0	0	0	2625	1115	39	1	1221	1	CAMKK2	12	121706459	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	101169	121706459	12145436	9997	13613											
ANAPC5	51433	broad.mit.edu	37	12	121746350	121746350	+	Missense_Mutation	SNP	G	G	A	rs115934510	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:121746350G>A	ENST00000261819.3	-	17	2322	c.2201C>T	c.(2200-2202)gCg>gTg	p.A734V	ANAPC5_ENST00000441917.2_Missense_Mutation_p.A622V|ANAPC5_ENST00000535482.1_Missense_Mutation_p.A400V|ANAPC5_ENST00000344395.4_Missense_Mutation_p.A622V|ANAPC5_ENST00000544314.1_5'UTR|ANAPC5_ENST00000541887.1_Missense_Mutation_p.A721V	NM_016237.4	NP_057321.2	Q9UJX4	APC5_HUMAN	anaphase promoting complex subunit 5	734					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding|ubiquitin-protein ligase activity	p.A734V(2)		breast(6)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(3)	31	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					GAAGAGCATCGCACACCGGTT	0.562													26	47					0	0	1	0	0	A	121746350	G	A	121746350	3	1	81	1	0	0	0	0	1	0	0	0	601	1087	38	1	70	1	ANAPC5	12	121746350	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	39891	121746350	12105545	9998	13614											
ANAPC5	51433	broad.mit.edu	37	12	121756220	121756220	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:121756220G>A	ENST00000261819.3	-	15	1874	c.1753C>T	c.(1753-1755)Ctg>Ttg	p.L585L	ANAPC5_ENST00000441917.2_Silent_p.L473L|ANAPC5_ENST00000535482.1_Silent_p.L251L|ANAPC5_ENST00000344395.4_Silent_p.L473L|ANAPC5_ENST00000544314.1_5'UTR|ANAPC5_ENST00000541887.1_Silent_p.L572L	NM_016237.4	NP_057321.2	Q9UJX4	APC5_HUMAN	anaphase promoting complex subunit 5	585					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding|ubiquitin-protein ligase activity			breast(6)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(3)	31	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					GCCACGGACAGTAGGACACTG	0.542													20	31					0	0	1	0	0	A	121756220	G	A	121756220	2	1	81	1	0	0	0	0	0	0	0	1	601	1020	36	2		2	ANAPC5	12	121756220	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	9870	121756220	12095675	9999	13615											
ANAPC5	51433	broad.mit.edu	37	12	121773353	121773353	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:121773353G>A	ENST00000261819.3	-	7	1054	c.933C>T	c.(931-933)caC>caT	p.H311H	ANAPC5_ENST00000441917.2_Silent_p.H212H|ANAPC5_ENST00000536366.1_Silent_p.H190H|ANAPC5_ENST00000344395.4_Silent_p.H212H|ANAPC5_ENST00000544314.1_5'UTR|ANAPC5_ENST00000541887.1_Silent_p.H311H	NM_016237.4	NP_057321.2	Q9UJX4	APC5_HUMAN	anaphase promoting complex subunit 5	311					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding|ubiquitin-protein ligase activity			breast(6)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(3)	31	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CGAAGCGGCAGTGCAGGGCGG	0.512													8	145					0	0	1	0	0	A	121773353	G	A	121773353	2	1	81	1	0	0	0	0	0	0	0	1	601	1020	36	2		2	ANAPC5	12	121773353	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	17133	121773353	12078542	10000	13616											
ANAPC5	51433	broad.mit.edu	37	12	121783770	121783770	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:121783770C>T	ENST00000261819.3	-	4	583	c.462G>A	c.(460-462)ctG>ctA	p.L154L	ANAPC5_ENST00000441917.2_Silent_p.L55L|ANAPC5_ENST00000536366.1_Silent_p.L33L|ANAPC5_ENST00000344395.4_Silent_p.L55L|ANAPC5_ENST00000541887.1_Silent_p.L154L	NM_016237.4	NP_057321.2	Q9UJX4	APC5_HUMAN	anaphase promoting complex subunit 5	154					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding|ubiquitin-protein ligase activity			breast(6)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(3)	31	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					GGGCAGTGTACAGTTTAAACA	0.428													18	144					0	0	1	0	0	T	121783770	C	T	121783770	2	4	81	1	0	0	0	0	0	0	0	1	601	465	17	2		2	ANAPC5	12	121783770	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	10417	121783770	12068125	10001	13617											
ANAPC5	51433	broad.mit.edu	37	12	121784789	121784789	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:121784789C>A	ENST00000261819.3	-	3	428	c.307G>T	c.(307-309)Ggc>Tgc	p.G103C	ANAPC5_ENST00000441917.2_Missense_Mutation_p.G4C|ANAPC5_ENST00000344395.4_Missense_Mutation_p.G4C|ANAPC5_ENST00000541887.1_Missense_Mutation_p.G103C	NM_016237.4	NP_057321.2	Q9UJX4	APC5_HUMAN	anaphase promoting complex subunit 5	103					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding|ubiquitin-protein ligase activity			breast(6)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(3)	31	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					TTCAACTCGCCTTCAGCCATC	0.368													7	54					0.000442599	0.000477972	1	1	0	A	121784789	C	A	121784789	3	1	81	1	0	0	0	0	1	0	0	0	601	681	24	4	2020	4	ANAPC5	12	121784789	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1019	121784789	12067106	10002	13618											
KDM2B	84678	broad.mit.edu	37	12	121877673	121877673	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:121877673C>A	ENST00000377069.4	-	21	4015	c.3609G>T	c.(3607-3609)gaG>gaT	p.E1203D	KDM2B_ENST00000377071.4_Missense_Mutation_p.E1272D|KDM2B_ENST00000536437.1_Intron|KDM2B_ENST00000542973.1_Missense_Mutation_p.E640D	NM_001005366.1	NP_001005366.1	Q8NHM5	KDM2B_HUMAN	lysine (K)-specific demethylase 2B	1272					embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						ACAGGTTGATCTCGGTTAAGG	0.547													13	16					0.000219431	0.000239308	1	1	0	A	121877673	C	A	121877673	3	1	81	1	0	0	0	0	1	0	0	0	8169	912	32	4	254	4	KDM2B	12	121877673	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	92884	121877673	11974222	10003	13619											
KDM2B	84678	broad.mit.edu	37	12	121882002	121882002	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:121882002C>T	ENST00000377069.4	-	16	2577	c.2171G>A	c.(2170-2172)cGg>cAg	p.R724Q	KDM2B_ENST00000377071.4_Missense_Mutation_p.R755Q|KDM2B_ENST00000536437.1_Intron|KDM2B_ENST00000542973.1_Missense_Mutation_p.R123Q	NM_001005366.1	NP_001005366.1	Q8NHM5	KDM2B_HUMAN	lysine (K)-specific demethylase 2B	755					embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						CTTGTTGTCCCGGTTCATCTT	0.602											OREG0022201	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	24	55					0	0	1	0	0	T	121882002	C	T	121882002	3	4	81	1	0	0	0	0	1	0	0	0	8169	652	23	1	1830	1	KDM2B	12	121882002	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	4329	121882002	11969893	10004	13620											
MORN3	283385	broad.mit.edu	37	12	122097205	122097205	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:122097205G>A	ENST00000355329.3	-	2	365	c.195C>T	c.(193-195)gaC>gaT	p.D65D		NM_173855.4	NP_776254.3	Q6PF18	MORN3_HUMAN	MORN repeat containing 3	65										breast(2)|large_intestine(1)|lung(4)|skin(1)|stomach(1)	9	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000409)|Epithelial(86;0.00145)		CAAACTTCCAGTCCCCCTCAT	0.572													8	52					0	0	1	0	0	A	122097205	G	A	122097205	2	1	81	1	0	0	0	0	0	0	0	1	9758	1020	36	2		2	MORN3	12	122097205	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	215203	122097205	11754690	10005	13621											
RHOF	54509	broad.mit.edu	37	12	122217535	122217535	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:122217535G>A	ENST00000267205.2	-	5	1133	c.505C>T	c.(505-507)Ctc>Ttc	p.L169F	RHOF_ENST00000537265.1_Missense_Mutation_p.L69F|TMEM120B_ENST00000538055.1_Intron|TMEM120B_ENST00000449592.2_3'UTR	NM_019034.2	NP_061907.2	Q9HBH0	RHOF_HUMAN	ras homolog family member F (in filopodia)	169					actin filament organization|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|plasma membrane	GTP binding|GTPase activity			large_intestine(1)|lung(1)|ovary(1)	3	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;4.38e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.223)		TCCAGGTAGAGAGCAGCTCGG	0.642													21	62					0	0	1	0	0	A	122217535	G	A	122217535	3	1	81	1	0	0	0	0	1	0	0	0	13388	942	33	2	134	2	RHOF	12	122217535	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	120330	122217535	11634360	10006	13622											
HPD	3242	broad.mit.edu	37	12	122294280	122294280	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:122294280C>T	ENST00000543163.1	-	7	602	c.157G>A	c.(157-159)Gga>Aga	p.G53R	HPD_ENST00000289004.4_Missense_Mutation_p.G92R|RP11-7M8.2_ENST00000543848.1_RNA	NM_001171993.1	NP_001165464.1	P32754	HPPD_HUMAN	4-hydroxyphenylpyruvate dioxygenase	92					L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	4-hydroxyphenylpyruvate dioxygenase activity|metal ion binding			breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(8)|urinary_tract(1)	18	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000105)|Epithelial(86;0.000352)|BRCA - Breast invasive adenocarcinoma(302;0.225)	Nitisinone(DB00348)	TCCTTCACTCCGTCACCGTGT	0.567													6	53					0	0	1	0	0	T	122294280	C	T	122294280	3	4	81	1	0	0	0	0	1	0	0	0	7373	661	23	1	943	1	HPD	12	122294280	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	76745	122294280	11557615	10007	13623											
PSMD9	5715	broad.mit.edu	37	12	122337707	122337707	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:122337707G>A	ENST00000541212.1	+	3	535	c.409G>A	c.(409-411)Gcc>Acc	p.A137T	RP11-87C12.2_ENST00000546333.1_Intron|PSMD9_ENST00000261817.2_Missense_Mutation_p.A137T|PSMD9_ENST00000340175.5_Missense_Mutation_p.A137T|PSMD9_ENST00000542602.1_Intron			O00233	PSMD9_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 9	137	PDZ.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of insulin secretion|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of insulin secretion|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|proteasome regulatory particle assembly|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	nucleus|proteasome regulatory particle	bHLH transcription factor binding|transcription coactivator activity			endometrium(1)|large_intestine(1)|lung(1)	3	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000117)|Epithelial(86;0.000415)|BRCA - Breast invasive adenocarcinoma(302;0.231)		ACGGGCCTTCGCCAAAGTGAA	0.642													10	26					0	0	1	0	0	A	122337707	G	A	122337707	3	1	81	1	0	0	0	0	1	0	0	0	12754	1087	38	1	419	1	PSMD9	12	122337707	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	43427	122337707	11514188	10008	13624											
IL31	386653	broad.mit.edu	37	12	122656969	122656969	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:122656969G>A	ENST00000377035.1	-	3	511	c.485C>T	c.(484-486)gCc>gTc	p.A162V		NM_001014336.1	NP_001014358.1	Q6EBC2	IL31_HUMAN	interleukin 31	162						extracellular space	cytokine activity			central_nervous_system(2)|kidney(1)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	13	all_neural(191;0.0837)|Medulloblastoma(191;0.163)	Lung NSC(355;6.93e-05)|Breast(359;0.0544)		OV - Ovarian serous cystadenocarcinoma(86;3.27e-29)|Epithelial(86;4.86e-27)|BRCA - Breast invasive adenocarcinoma(302;0.223)		TTAAGTGGTGGCCTGTTGGGC	0.473													32	52					0	0	1	0	0	A	122656969	G	A	122656969	3	1	81	1	0	0	0	0	1	0	0	0	7734	1203	42	2	13	2	IL31	12	122656969	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	319262	122656969	11194926	10009	13625											
B3GNT4	79369	broad.mit.edu	37	12	122691477	122691477	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:122691477A>G	ENST00000535274.1	+	1	2331	c.604A>G	c.(604-606)Aac>Gac	p.N202D	B3GNT4_ENST00000545141.1_Intron|B3GNT4_ENST00000324189.4_Missense_Mutation_p.N227D|B3GNT4_ENST00000546192.1_Missense_Mutation_p.N202D			Q9C0J1	B3GN4_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 4	227					protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	13	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000297)|Epithelial(86;0.000497)|BRCA - Breast invasive adenocarcinoma(302;0.222)		CCACGTCCCCAACGTGTTAGA	0.592													28	24					0	0	1	0	0	G	122691477	A	G	122691477	3	3	81	1	0	0	0	0	1	0	0	0	1257	130	5	3	685	3	B3GNT4	12	122691477	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	34508	122691477	11160418	10010	13626											
DIABLO	56616	broad.mit.edu	37	12	122693109	122693109	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:122693109G>T	ENST00000464942.2	-	5	1773	c.380C>A	c.(379-381)tCt>tAt	p.S127Y	DIABLO_ENST00000413918.1_Missense_Mutation_p.S136Y|RP11-512M8.5_ENST00000535844.1_3'UTR|DIABLO_ENST00000443649.3_Missense_Mutation_p.S180Y|B3GNT4_ENST00000545141.1_3'UTR|DIABLO_ENST00000353548.6_Missense_Mutation_p.S136Y|B3GNT4_ENST00000546192.1_3'UTR|DIABLO_ENST00000267169.6_Missense_Mutation_p.S127Y	NM_001278304.1	NP_001265233.1	Q9NR28	DBLOH_HUMAN	diablo, IAP-binding mitochondrial protein	180					activation of caspase activity by cytochrome c|induction of apoptosis via death domain receptors	CD40 receptor complex|cytosol|internal side of plasma membrane|mitochondrial intermembrane space	protein binding			breast(1)|endometrium(3)|large_intestine(1)|lung(1)|ovary(1)	7	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000302)|Epithelial(86;0.00051)|BRCA - Breast invasive adenocarcinoma(302;0.223)		GGCGGTTATAGAGGCCTGATC	0.582													11	14					1.61879e-10	1.98515e-10	1	1	0	T	122693109	G	T	122693109	3	4	81	1	0	0	0	0	1	0	0	0	4545	942	33	4	184	4	DIABLO	12	122693109	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1632	122693109	11158786	10011	13627											
DIABLO	56616	broad.mit.edu	37	12	122709222	122709222	+	Translation_Start_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:122709222C>T	ENST00000464942.2	-	0	1387				DIABLO_ENST00000413918.1_Intron|RP11-512M8.5_ENST00000535844.1_Intron|DIABLO_ENST00000443649.3_Intron|DIABLO_ENST00000353548.6_Intron|DIABLO_ENST00000267169.6_De_novo_Start_OutOfFrame	NM_001278304.1	NP_001265233.1	Q9NR28	DBLOH_HUMAN	diablo, IAP-binding mitochondrial protein						activation of caspase activity by cytochrome c|induction of apoptosis via death domain receptors	CD40 receptor complex|cytosol|internal side of plasma membrane|mitochondrial intermembrane space	protein binding			breast(1)|endometrium(3)|large_intestine(1)|lung(1)|ovary(1)	7	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000302)|Epithelial(86;0.00051)|BRCA - Breast invasive adenocarcinoma(302;0.223)		TCATAAGGCACGACCGCCAAT	0.458													13	31					0	0	1	0	0	T	122709222	C	T	122709222	1	4	81	1	0	0	0	0	0	0	0	0	4545	551	19	1		1	DIABLO	12	122709222	Translation_Start_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	16113	122709222	11142673	10012	13628											
VPS33A	65082	broad.mit.edu	37	12	122716793	122716793	+	Nonstop_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:122716793C>A	ENST00000267199.4	-	13	1903	c.1791G>T	c.(1789-1791)taG>taT	p.*597Y	RP11-512M8.5_ENST00000535844.1_Intron	NM_022916.4	NP_075067.2	Q96AX1	VP33A_HUMAN	vacuolar protein sorting 33 homolog A (S. cerevisiae)	0					lysosome localization|melanosome localization|platelet formation|protein transport|regulation of developmental pigmentation|vesicle docking involved in exocytosis	early endosome|late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm	protein binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(13)|ovary(1)|skin(2)	28	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000336)|Epithelial(86;0.000606)|BRCA - Breast invasive adenocarcinoma(302;0.23)		TCTGAACATCCTAGAAAGGTT	0.398													77	119					1.42954e-44	1.92161e-44	1	1	0	A	122716793	C	A	122716793	4	1	81	1	0	0	0	0	0	0	0	0	17261	692	24	4	3	4	VPS33A	12	122716793	Nonstop_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	7571	122716793	11135102	10013	13629											
VPS33A	65082	broad.mit.edu	37	12	122716899	122716899	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:122716899C>T	ENST00000267199.4	-	13	1797	c.1685G>A	c.(1684-1686)cGa>cAa	p.R562Q	RP11-512M8.5_ENST00000535844.1_Missense_Mutation_p.R523Q	NM_022916.4	NP_075067.2	Q96AX1	VP33A_HUMAN	vacuolar protein sorting 33 homolog A (S. cerevisiae)	562					lysosome localization|melanosome localization|platelet formation|protein transport|regulation of developmental pigmentation|vesicle docking involved in exocytosis	early endosome|late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm	protein binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(13)|ovary(1)|skin(2)	28	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000336)|Epithelial(86;0.000606)|BRCA - Breast invasive adenocarcinoma(302;0.23)		GGAGAGAAATCGCAGGGCAGC	0.428													54	86					0	0	1	0	0	T	122716899	C	T	122716899	3	4	81	1	0	0	0	0	1	0	0	0	17261	884	31	1	109	1	VPS33A	12	122716899	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	106	122716899	11134996	10014	13630											
CLIP1	6249	broad.mit.edu	37	12	122812815	122812815	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:122812815G>A	ENST00000358808.2	-	15	3147	c.2993C>T	c.(2992-2994)tCg>tTg	p.S998L	CLIP1_ENST00000302528.7_Missense_Mutation_p.S998L|CLIP1_ENST00000537178.1_Missense_Mutation_p.S963L|CLIP1_ENST00000545889.1_Missense_Mutation_p.S584L|CLIP1_ENST00000361654.4_Missense_Mutation_p.S887L|CLIP1_ENST00000540338.1_Missense_Mutation_p.S1009L	NM_001247997.1|NM_002956.2	NP_001234926.1|NP_002947.1	P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1	1009					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)		TACCAGGTCCGACAATTTCCT	0.478													162	251					0	0	1	0	0	A	122812815	G	A	122812815	3	1	81	1	0	0	0	0	1	0	0	0	3555	1059	37	1	1334	1	CLIP1	12	122812815	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	95916	122812815	11039080	10015	13631											
CLIP1	6249	broad.mit.edu	37	12	122862245	122862245	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:122862245G>A	ENST00000358808.2	-	3	502	c.348C>T	c.(346-348)ggC>ggT	p.G116G	CLIP1_ENST00000302528.7_Silent_p.G116G|CLIP1_ENST00000537178.1_Silent_p.G116G|CLIP1_ENST00000361654.4_Silent_p.G116G|CLIP1_ENST00000540338.1_Silent_p.G116G	NM_001247997.1|NM_002956.2	NP_001234926.1|NP_002947.1	P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1	116	CAP-Gly 1.				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)		GGGTAAATATGCCCTTTAAAG	0.507													32	61					0	0	1	0	0	A	122862245	G	A	122862245	2	1	81	1	0	0	0	0	0	0	0	1	3555	1306	46	2		2	CLIP1	12	122862245	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	49430	122862245	10989650	10016	13632											
CLIP1	6249	broad.mit.edu	37	12	122862486	122862487	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:122862486_122862487insT	ENST00000358808.2	-	3	260_261	c.106_107insA	c.(106-108)accfs	p.T36fs	CLIP1_ENST00000361654.4_Frame_Shift_Ins_p.T36fs|CLIP1_ENST00000302528.7_Frame_Shift_Ins_p.T36fs|CLIP1_ENST00000540338.1_Frame_Shift_Ins_p.T36fs|CLIP1_ENST00000537178.1_Frame_Shift_Ins_p.T36fs	NM_001247997.1|NM_002956.2	NP_001234926.1|NP_002947.1	P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1	36					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)		ACTGGATATGGTTTTTTCTACT	0.386													13	161	---	---	---	---						T	122862487	-	T	122862486	7	5	81	1	0	1	1	0	0	0	0	0	3555	1261	44	0	4268	0	CLIP1	12	122862486	Frame_Shift_Ins	INS	-	TCGA-DU-6392-01A-11D-1705-08	241	122862486	10989409	10017	13633											
ZCCHC8	55596	broad.mit.edu	37	12	122958464	122958464	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:122958464C>T	ENST00000543897.1	-	12	3345	c.990G>A	c.(988-990)ccG>ccA	p.P330P	ZCCHC8_ENST00000336229.4_Silent_p.P568P|ZCCHC8_ENST00000536306.1_Silent_p.P330P|ZCCHC8_ENST00000538116.1_Silent_p.P179P			Q6NZY4	ZCHC8_HUMAN	zinc finger, CCHC domain containing 8	568						catalytic step 2 spliceosome	nucleic acid binding|protein binding|zinc ion binding			endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.25e-05)|Epithelial(86;0.000113)|BRCA - Breast invasive adenocarcinoma(302;0.202)		TTTTTCCCTCCGGGACAGGGA	0.502													103	172					0	0	1	0	0	T	122958464	C	T	122958464	2	4	81	1	0	0	0	0	0	0	0	1	17652	639	23	1		1	ZCCHC8	12	122958464	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	95978	122958464	10893431	10018	13634											
RSRC2	65117	broad.mit.edu	37	12	122990173	122990173	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:122990173A>C	ENST00000331738.7	-	10	1351	c.1206T>G	c.(1204-1206)aaT>aaG	p.N402K	RSRC2_ENST00000354654.2_Missense_Mutation_p.N354K|RSRC2_ENST00000392442.2_5'UTR	NM_023012.5	NP_075388.2	Q7L4I2	RSRC2_HUMAN	arginine/serine-rich coiled-coil 2	402										breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|urinary_tract(2)	24	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.14e-05)|Epithelial(86;0.000183)|BRCA - Breast invasive adenocarcinoma(302;0.201)		GAGCATCTAAATTTCGAAATA	0.393													36	67					0	0	1	0	0	C	122990173	A	C	122990173	3	2	81	1	0	0	0	0	1	0	0	0	13767	98	4	4	102	4	RSRC2	12	122990173	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	31709	122990173	10861722	10019	13635											
KNTC1	9735	broad.mit.edu	37	12	123024244	123024244	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:123024244G>A	ENST00000333479.7	+	5	565	c.388G>A	c.(388-390)Gat>Aat	p.D130N	KNTC1_ENST00000450485.2_Missense_Mutation_p.D130N	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1	130					cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole	protein binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		GAAAGCTAACGATGAAAATCG	0.274													5	2					0	0	1	0	0	A	123024244	G	A	123024244	3	1	81	1	0	0	0	0	1	0	0	0	8471	1058	37	1	402	1	KNTC1	12	123024244	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	34071	123024244	10827651	10020	13636											
KNTC1	9735	broad.mit.edu	37	12	123047224	123047224	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:123047224G>A	ENST00000333479.7	+	20	1759	c.1582G>A	c.(1582-1584)Gca>Aca	p.A528T	KNTC1_ENST00000450485.2_Missense_Mutation_p.A491T	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1	528					cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole	protein binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		TTTTTATGGAGCATTTGGACC	0.343													9	11					0	0	1	0	0	A	123047224	G	A	123047224	3	1	81	1	0	0	0	0	1	0	0	0	8471	971	34	2	1656	2	KNTC1	12	123047224	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	22980	123047224	10804671	10021	13637											
KNTC1	9735	broad.mit.edu	37	12	123067323	123067323	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:123067323G>A	ENST00000333479.7	+	34	3231	c.3054G>A	c.(3052-3054)caG>caA	p.Q1018Q	KNTC1_ENST00000450485.2_Intron	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1	1018					cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole	protein binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		TCCGTGAGCAGCACATTAAAG	0.483													11	17					0	0	1	0	0	A	123067323	G	A	123067323	2	1	81	1	0	0	0	0	0	0	0	1	8471	962	34	2		2	KNTC1	12	123067323	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	20099	123067323	10784572	10022	13638											
CCDC62	84660	broad.mit.edu	37	12	123286229	123286229	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:123286229C>A	ENST00000253079.6	+	9	1880	c.1536C>A	c.(1534-1536)gaC>gaA	p.D512E	CCDC62_ENST00000392440.2_Missense_Mutation_p.D273E|CCDC62_ENST00000392441.4_Missense_Mutation_p.D512E|CCDC62_ENST00000537566.1_Missense_Mutation_p.D273E	NM_201435.4	NP_958843.2	Q6P9F0	CCD62_HUMAN	coiled-coil domain containing 62	512						cytoplasm|nucleus				breast(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1)	20	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.51e-06)|Epithelial(86;2.65e-05)|BRCA - Breast invasive adenocarcinoma(302;0.206)		GCATGTGTGACTCCAAGTGCT	0.473													35	71					4.11147e-13	5.17576e-13	1	1	0	A	123286229	C	A	123286229	3	1	81	1	0	0	0	0	1	0	0	0	2853	564	20	4	1570	4	CCDC62	12	123286229	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	218906	123286229	10565666	10023	13639											
HIP1R	9026	broad.mit.edu	37	12	123335813	123335813	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:123335813C>T	ENST00000253083.4	+	7	671	c.546C>T	c.(544-546)taC>taT	p.Y182Y		NM_003959.1	NP_003950.1	O75146	HIP1R_HUMAN	huntingtin interacting protein 1 related	182					receptor-mediated endocytosis	clathrin coated vesicle membrane|coated pit|perinuclear region of cytoplasm	actin binding|phosphatidylinositol binding			breast(1)|endometrium(5)|kidney(6)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	26	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;4.6e-05)|Epithelial(86;0.000119)|BRCA - Breast invasive adenocarcinoma(302;0.2)		TGTTTGATTACATGGATTGTG	0.527													50	84					0	0	1	0	0	T	123335813	C	T	123335813	2	4	81	1	0	0	0	0	0	0	0	1	7156	489	17	2		2	HIP1R	12	123335813	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	49584	123335813	10516082	10024	13640											
HIP1R	9026	broad.mit.edu	37	12	123345497	123345497	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:123345497G>A	ENST00000253083.4	+	29	2926	c.2801G>A	c.(2800-2802)cGc>cAc	p.R934H		NM_003959.1	NP_003950.1	O75146	HIP1R_HUMAN	huntingtin interacting protein 1 related	934	I/LWEQ.				receptor-mediated endocytosis	clathrin coated vesicle membrane|coated pit|perinuclear region of cytoplasm	actin binding|phosphatidylinositol binding			breast(1)|endometrium(5)|kidney(6)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	26	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;4.6e-05)|Epithelial(86;0.000119)|BRCA - Breast invasive adenocarcinoma(302;0.2)		CACCTGAGCCGCCTGCAGGAA	0.637											OREG0022225	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	12					0	0	1	0	0	A	123345497	G	A	123345497	3	1	81	1	0	0	0	0	1	0	0	0	7156	1087	38	1	2915	1	HIP1R	12	123345497	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	9684	123345497	10506398	10025	13641											
ABCB9	23457	broad.mit.edu	37	12	123428988	123428988	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:123428988T>C	ENST00000542678.1	-	7	4168	c.1330A>G	c.(1330-1332)Aac>Gac	p.N444D	ABCB9_ENST00000442833.2_Missense_Mutation_p.N444D|ABCB9_ENST00000541983.1_5'UTR|ABCB9_ENST00000280560.8_Missense_Mutation_p.N444D|ABCB9_ENST00000540285.1_Missense_Mutation_p.N444D|ABCB9_ENST00000344275.7_Missense_Mutation_p.N444D|ABCB9_ENST00000346530.5_Intron|ABCB9_ENST00000442028.2_Missense_Mutation_p.N444D|ABCB9_ENST00000392439.3_Missense_Mutation_p.N444D			Q9NP78	ABCB9_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 9	444	ABC transmembrane type-1.				positive regulation of T cell mediated cytotoxicity|protein transport	lysosomal membrane|plasma membrane|TAP complex	ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|protein homodimerization activity|TAP1 binding|TAP2 binding|tapasin binding			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(1)	18	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.84e-05)|Epithelial(86;0.000152)|BRCA - Breast invasive adenocarcinoma(302;0.111)		GCGATGAGGTTGCCGCTGGTC	0.587													10	93					0	0	1	0	0	C	123428988	T	C	123428988	3	2	81	1	0	0	0	0	1	0	0	0	48	1812	63	3	994	3	ABCB9	12	123428988	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	83491	123428988	10422907	10026	13642											
PITPNM2	57605	broad.mit.edu	37	12	123477114	123477114	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:123477114G>T	ENST00000280562.5	-	15	2541	c.2336C>A	c.(2335-2337)gCc>gAc	p.A779D	PITPNM2_ENST00000320201.4_Missense_Mutation_p.A779D|PITPNM2_ENST00000392428.1_Missense_Mutation_p.A500D|PITPNM2_ENST00000542749.1_Missense_Mutation_p.A779D			Q9BZ72	PITM2_HUMAN	phosphatidylinositol transfer protein, membrane-associated 2	779	DDHD.				metabolic process|transport	endomembrane system|integral to membrane|intracellular membrane-bounded organelle	calcium ion binding|lipid binding			NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		AGGCGGCAGGGCGTGAAAGCG	0.682													7	40					2.0095e-06	2.30238e-06	1	1	0	T	123477114	G	T	123477114	3	4	81	1	0	0	0	0	1	0	0	0	11999	1203	42	5	1757	5	PITPNM2	12	123477114	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	48126	123477114	10374781	10027	13643											
SBNO1	55206	broad.mit.edu	37	12	123789129	123789129	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:123789129C>A	ENST00000420886.2	-	28	3767	c.3768G>T	c.(3766-3768)aaG>aaT	p.K1256N	SBNO1_ENST00000267176.4_Splice_Site_p.K1255N|SBNO1_ENST00000602398.1_Splice_Site_p.K1256N|SBNO1_ENST00000602750.1_Splice_Site_p.K1255N	NM_001167856.1	NP_001161328.1	A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)	1256							ATP binding|DNA binding|hydrolase activity			NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		GAAAAAATACCTTCTTATATT	0.348													4	21					0.00909568	0.00944708	1	1	0	A	123789129	C	A	123789129	5	1	81	1	0	0	0	0	0	0	1	0	13915	695	24	4	429	4	SBNO1	12	123789129	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	312015	123789129	10062766	10028	13644											
SBNO1	55206	broad.mit.edu	37	12	123804521	123804521	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:123804521A>G	ENST00000420886.2	-	19	2724	c.2725T>C	c.(2725-2727)Tca>Cca	p.S909P	SBNO1_ENST00000267176.4_Missense_Mutation_p.S908P|SBNO1_ENST00000602398.1_Missense_Mutation_p.S909P|SBNO1_ENST00000602750.1_Missense_Mutation_p.S908P	NM_001167856.1	NP_001161328.1	A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)	909							ATP binding|DNA binding|hydrolase activity			NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		TCAGATCTTGACTCATAAGAT	0.408													3	41					0	0	1	0	0	G	123804521	A	G	123804521	3	3	81	1	0	0	0	0	1	0	0	0	13915	275	10	3	1508	3	SBNO1	12	123804521	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	15392	123804521	10047374	10029	13645											
SBNO1	55206	broad.mit.edu	37	12	123812039	123812039	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:123812039G>T	ENST00000420886.2	-	12	1625	c.1626C>A	c.(1624-1626)acC>acA	p.T542T	SBNO1_ENST00000267176.4_Silent_p.T541T|SBNO1_ENST00000602398.1_Silent_p.T542T|SBNO1_ENST00000602750.1_Silent_p.T541T	NM_001167856.1	NP_001161328.1	A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)	542							ATP binding|DNA binding|hydrolase activity			NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		CAATTTTGAAGGTCACTCCAG	0.363													16	38					0.000422831	0.00045788	1	1	0	T	123812039	G	T	123812039	2	4	81	1	0	0	0	0	0	0	0	1	13915	987	35	4		4	SBNO1	12	123812039	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	7518	123812039	10039856	10030	13646											
RILPL2	196383	broad.mit.edu	37	12	123900468	123900468	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:123900468C>A	ENST00000280571.8	-	4	902	c.606G>T	c.(604-606)ctG>ctT	p.L202L		NM_145058.1	NP_659495.1	Q969X0	RIPL2_HUMAN	Rab interacting lysosomal protein-like 2	202						cytosol|plasma membrane	identical protein binding			endometrium(1)|large_intestine(2)|lung(2)|skin(1)	6	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000546)|Epithelial(86;0.00179)|all cancers(50;0.0168)		GAAAAAAGAACCTGGTGTGGA	0.488													106	183					5.11573e-52	6.88941e-52	1	1	0	A	123900468	C	A	123900468	5	1	81	1	0	0	0	0	0	0	1	0	13412	521	18	5	33	5	RILPL2	12	123900468	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	88429	123900468	9951427	10031	13647											
SNRNP35	11066	broad.mit.edu	37	12	123950644	123950644	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:123950644G>A	ENST00000526639.2	+	2	1136	c.557G>A	c.(556-558)cGa>cAa	p.R186Q	SNRNP35_ENST00000527158.2_Intron|SNRNP35_ENST00000350887.5_Missense_Mutation_p.R186Q|SNRNP35_ENST00000412157.2_Missense_Mutation_p.R191Q	NM_022717.3	NP_073208.1	Q16560	U1SBP_HUMAN	small nuclear ribonucleoprotein 35kDa (U11/U12)	186	Arg-rich.				mRNA processing	U12-type spliceosomal complex	nucleotide binding|RNA binding			NS(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	8						AGGCGGGAGCGATCTCGATCC	0.542													18	33					0	0	1	0	0	A	123950644	G	A	123950644	3	1	81	1	0	0	0	0	1	0	0	0	14909	1058	37	1	578	1	SNRNP35	12	123950644	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	50176	123950644	9901251	10032	13648											
DDX55	57696	broad.mit.edu	37	12	124094552	124094552	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:124094552G>A	ENST00000238146.4	+	7	668	c.618G>A	c.(616-618)acG>acA	p.T206T	DDX55_ENST00000538744.1_Silent_p.T206T	NM_020936.1	NP_065987.1	Q8NHQ9	DDX55_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 55	206	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|RNA binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	14	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000142)|Epithelial(86;0.000637)|all cancers(50;0.00772)		CCACTCAGACGCAGGAAGTGG	0.567													20	31					0	0	1	0	0	A	124094552	G	A	124094552	2	1	81	1	0	0	0	0	0	0	0	1	4396	1074	38	1		1	DDX55	12	124094552	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	143908	124094552	9757343	10033	13649											
TCTN2	79867	broad.mit.edu	37	12	124171495	124171495	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:124171495G>A	ENST00000303372.5	+	6	805	c.677G>A	c.(676-678)cGt>cAt	p.R226H	TCTN2_ENST00000426174.2_Missense_Mutation_p.R225H	NM_001143850.2|NM_024809.4	NP_001137322.1|NP_079085.2	Q96GX1	TECT2_HUMAN	tectonic family member 2	226					cilium assembly|smoothened signaling pathway	integral to membrane				breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000163)|Epithelial(86;0.000502)|all cancers(50;0.00451)		ACGACGACACGTGGTGTCCCC	0.527													87	136					0	0	1	0	0	A	124171495	G	A	124171495	3	1	81	1	0	0	0	0	1	0	0	0	15782	1145	40	1	699	1	TCTN2	12	124171495	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	76943	124171495	9680400	10034	13650	66	2									
TCTN2	79867	broad.mit.edu	37	12	124171499	124171499	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:124171499T>C	ENST00000303372.5	+	6	809	c.681T>C	c.(679-681)ggT>ggC	p.G227G	TCTN2_ENST00000426174.2_Silent_p.G226G	NM_001143850.2|NM_024809.4	NP_001137322.1|NP_079085.2	Q96GX1	TECT2_HUMAN	tectonic family member 2	227					cilium assembly|smoothened signaling pathway	integral to membrane				breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000163)|Epithelial(86;0.000502)|all cancers(50;0.00451)		CGACACGTGGTGTCCCCGATT	0.542													12	209					0	0	1	0	0	C	124171499	T	C	124171499	2	2	81	1	0	0	0	0	0	0	0	1	15782	1683	59	3		3	TCTN2	12	124171499	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	4	124171499	9680396	10035	13651	66	2									
TCTN2	79867	broad.mit.edu	37	12	124179474	124179474	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:124179474T>C	ENST00000303372.5	+	10	1313	c.1185T>C	c.(1183-1185)agT>agC	p.S395S	TCTN2_ENST00000426174.2_Silent_p.S394S	NM_001143850.2|NM_024809.4	NP_001137322.1|NP_079085.2	Q96GX1	TECT2_HUMAN	tectonic family member 2	395					cilium assembly|smoothened signaling pathway	integral to membrane				breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000163)|Epithelial(86;0.000502)|all cancers(50;0.00451)		ATACCATCAGTGAAATAAATG	0.318													12	69					0	0	1	0	0	C	124179474	T	C	124179474	2	2	81	1	0	0	0	0	0	0	0	1	15782	1693	59	3		3	TCTN2	12	124179474	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	7975	124179474	9672421	10036	13652											
TCTN2	79867	broad.mit.edu	37	12	124180977	124180977	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:124180977A>C	ENST00000303372.5	+	12	1456	c.1328A>C	c.(1327-1329)aAg>aCg	p.K443T	TCTN2_ENST00000426174.2_Missense_Mutation_p.K442T	NM_001143850.2|NM_024809.4	NP_001137322.1|NP_079085.2	Q96GX1	TECT2_HUMAN	tectonic family member 2	443					cilium assembly|smoothened signaling pathway	integral to membrane				breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000163)|Epithelial(86;0.000502)|all cancers(50;0.00451)		CAACTTGGCAAGCCTGTCCGA	0.438													35	50					0	0	1	0	0	C	124180977	A	C	124180977	3	2	81	1	0	0	0	0	1	0	0	0	15782	72	3	5	1374	5	TCTN2	12	124180977	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	1503	124180977	9670918	10037	13653											
DNAH10	196385	broad.mit.edu	37	12	124268500	124268500	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:124268500G>T	ENST00000409039.3	+	8	848	c.823G>T	c.(823-825)Ggc>Tgc	p.G275C		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	275	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TCAGGGTAAAGGCCCTCTGGC	0.438													11	21					1.11149e-13	1.40369e-13	1	1	0	T	124268500	G	T	124268500	3	4	81	1	0	0	0	0	1	0	0	0	4626	1000	35	4	853	4	DNAH10	12	124268500	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	87523	124268500	9583395	10038	13654											
DNAH10	196385	broad.mit.edu	37	12	124283889	124283889	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:124283889G>T	ENST00000409039.3	+	13	1931	c.1906G>T	c.(1906-1908)Gct>Tct	p.A636S		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	636	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GGTGCTGCCAGCTCTCATGAA	0.502													4	42					0.00198382	0.00209725	1	1	0	T	124283889	G	T	124283889	3	4	81	1	0	0	0	0	1	0	0	0	4626	971	34	4	1956	4	DNAH10	12	124283889	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	15389	124283889	9568006	10039	13655											
DNAH10	196385	broad.mit.edu	37	12	124285903	124285903	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:124285903G>A	ENST00000409039.3	+	15	2209	c.2184G>A	c.(2182-2184)gtG>gtA	p.V728V		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	728	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		CGGAGTCTGTGCTTCTCAAAG	0.443													12	144					0	0	1	0	0	A	124285903	G	A	124285903	2	1	81	1	0	0	0	0	0	0	0	1	4626	1306	46	2		2	DNAH10	12	124285903	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2014	124285903	9565992	10040	13656											
DNAH10	196385	broad.mit.edu	37	12	124332541	124332541	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:124332541G>A	ENST00000409039.3	+	32	5519	c.5494G>A	c.(5494-5496)Ggc>Agc	p.G1832S		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1832	AAA 1 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GGCCCCCGCCGGCCCAGCAGG	0.537													33	73					0	0	1	0	0	A	124332541	G	A	124332541	3	1	81	1	0	0	0	0	1	0	0	0	4626	1116	39	1	5620	1	DNAH10	12	124332541	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	46638	124332541	9519354	10041	13657											
CCDC92	80212	broad.mit.edu	37	12	124421701	124421701	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:124421701C>T	ENST00000545135.1	-	3	4145	c.849G>A	c.(847-849)ccG>ccA	p.P283P	CCDC92_ENST00000238156.3_Silent_p.P300P|CCDC92_ENST00000544798.1_Intron|CCDC92_ENST00000545891.1_Silent_p.P283P			Q53HC0	CCD92_HUMAN	coiled-coil domain containing 92	300										large_intestine(5)|lung(2)	7	all_neural(191;0.101)|Medulloblastoma(191;0.163)			Epithelial(86;0.0002)|OV - Ovarian serous cystadenocarcinoma(86;0.000222)|all cancers(50;0.00129)|BRCA - Breast invasive adenocarcinoma(302;0.242)		GGGCCTGCGGCGGGGTGGCGT	0.687													15	17					0	0	1	0	0	T	124421701	C	T	124421701	2	4	81	1	0	0	0	0	0	0	0	1	2891	755	27	1		1	CCDC92	12	124421701	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	89160	124421701	9430194	10042	13658											
ZNF664	144348	broad.mit.edu	37	12	124497044	124497044	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:124497044G>T	ENST00000539644.1	+	6	2183	c.353G>T	c.(352-354)aGt>aTt	p.S118I	ZNF664_ENST00000538932.2_Missense_Mutation_p.S118I|ZNF664_ENST00000392404.3_Missense_Mutation_p.S118I|ZNF664_ENST00000337815.4_Missense_Mutation_p.S118I|FAM101A_ENST00000545615.1_Intron			Q8N3J9	ZN664_HUMAN	zinc finger protein 664	118					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|large_intestine(5)|lung(6)|skin(1)	13	all_neural(191;0.101)|Medulloblastoma(191;0.163)			Epithelial(86;0.000239)|OV - Ovarian serous cystadenocarcinoma(86;0.000247)|all cancers(50;0.00155)|BRCA - Breast invasive adenocarcinoma(302;0.249)		TATGTCTGTAGTGAGTGTGGA	0.448													7	113					0.00198382	0.00209725	1	1	0	T	124497044	G	T	124497044	3	4	81	1	0	0	0	0	1	0	0	0	18129	1029	36	4	355	4	ZNF664	12	124497044	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	75343	124497044	9354851	10043	13659											
NCOR2	9612	broad.mit.edu	37	12	124812048	124812048	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:124812048C>T	ENST00000356219.3	-	46	7266	c.7111G>A	c.(7111-7113)Gct>Act	p.A2371T	NCOR2_ENST00000397355.1_Intron|NCOR2_ENST00000405201.1_Missense_Mutation_p.A2364T|NCOR2_ENST00000429285.2_Missense_Mutation_p.A2354T|NCOR2_ENST00000404621.1_Intron|NCOR2_ENST00000404121.2_Missense_Mutation_p.A1925T	NM_006312.5	NP_006303.4	Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	2375					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		GGGTTAAAAGCATTGGCGCTG	0.577													14	23					0	0	1	0	0	T	124812048	C	T	124812048	3	4	81	1	0	0	0	0	1	0	0	0	10283	710	25	2	466	2	NCOR2	12	124812048	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	315004	124812048	9039847	10044	13660											
NCOR2	9612	broad.mit.edu	37	12	124816898	124816898	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:124816898G>A	ENST00000356219.3	-	44	7047	c.6892C>T	c.(6892-6894)Ctg>Ttg	p.L2298L	NCOR2_ENST00000397355.1_Silent_p.L2282L|NCOR2_ENST00000405201.1_Silent_p.L2291L|NCOR2_ENST00000429285.2_Silent_p.L2281L|NCOR2_ENST00000404621.1_Silent_p.L2281L|NCOR2_ENST00000404121.2_Silent_p.L1852L	NM_006312.5	NP_006303.4	Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	2302					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		TGGGTGTTCAGCTTCTTGTTG	0.612											OREG0022237	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	96					0	0	1	0	0	A	124816898	G	A	124816898	2	1	81	1	0	0	0	0	0	0	0	1	10283	962	34	2		2	NCOR2	12	124816898	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	4850	124816898	9034997	10045	13661											
NCOR2	9612	broad.mit.edu	37	12	124817694	124817694	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:124817694C>A	ENST00000356219.3	-	43	6913	c.6758G>T	c.(6757-6759)gGg>gTg	p.G2253V	NCOR2_ENST00000397355.1_Missense_Mutation_p.G2237V|NCOR2_ENST00000405201.1_Missense_Mutation_p.G2246V|NCOR2_ENST00000429285.2_Missense_Mutation_p.G2236V|NCOR2_ENST00000404621.1_Missense_Mutation_p.G2236V|NCOR2_ENST00000404121.2_Missense_Mutation_p.G1807V	NM_006312.5	NP_006303.4	Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	2257					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		CGTCTGTTCCCCATCCCGGTA	0.652													7	40					5.18039e-06	5.88187e-06	1	1	0	A	124817694	C	A	124817694	3	1	81	1	0	0	0	0	1	0	0	0	10283	623	22	5	831	5	NCOR2	12	124817694	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	796	124817694	9034201	10046	13662											
NCOR2	9612	broad.mit.edu	37	12	124870300	124870300	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:124870300C>T	ENST00000356219.3	-	18	2165	c.2010G>A	c.(2008-2010)aaG>aaA	p.K670K	NCOR2_ENST00000397355.1_Silent_p.K670K|NCOR2_ENST00000405201.1_Silent_p.K670K|NCOR2_ENST00000429285.2_Silent_p.K669K|NCOR2_ENST00000404621.1_Silent_p.K669K|NCOR2_ENST00000404121.2_Silent_p.K240K	NM_006312.5	NP_006303.4	Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	670					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		CCATCTTCAGCTTGTGCTGCT	0.582													56	79					0	0	1	0	0	T	124870300	C	T	124870300	2	4	81	1	0	0	0	0	0	0	0	1	10283	796	28	2		2	NCOR2	12	124870300	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	52606	124870300	8981595	10047	13663											
NCOR2	9612	broad.mit.edu	37	12	124950731	124950731	+	Translation_Start_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:124950731G>A	ENST00000404121.2	-	0	848				NCOR2_ENST00000397355.1_Silent_p.Y231Y|NCOR2_ENST00000405201.1_Silent_p.Y231Y|NCOR2_ENST00000429285.2_Silent_p.Y231Y|NCOR2_ENST00000404621.1_Silent_p.Y231Y|NCOR2_ENST00000356219.3_Silent_p.Y231Y	NM_001206654.1	NP_001193583.1	Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2						cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		GGTTCTCGTCGTAGATGATCT	0.657													30	50					0	0	1	0	0	A	124950731	G	A	124950731	1	1	81	1	0	0	0	0	0	0	0	0	10283	1140	40	1		1	NCOR2	12	124950731	Translation_Start_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	80431	124950731	8901164	10048	13664											
SCARB1	949	broad.mit.edu	37	12	125270966	125270966	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:125270966G>A	ENST00000339570.5	-	11	1534	c.1338C>T	c.(1336-1338)taC>taT	p.Y446Y	SCARB1_ENST00000535005.1_5'UTR|SCARB1_ENST00000541205.1_Silent_p.Y405Y|SCARB1_ENST00000540495.1_Silent_p.Y409Y|SCARB1_ENST00000546215.1_Intron|SCARB1_ENST00000261693.6_Silent_p.Y446Y|SCARB1_ENST00000544327.1_Silent_p.Y392Y|SCARB1_ENST00000376788.1_Silent_p.Y346Y|SCARB1_ENST00000415380.2_Silent_p.Y446Y	NM_001082959.1	NP_001076428.1	Q8WTV0	SCRB1_HUMAN	scavenger receptor class B, member 1	446					adhesion to symbiont|cell adhesion|cholesterol efflux|cholesterol homeostasis|cholesterol import|detection of lipopolysaccharide|high-density lipoprotein particle clearance|high-density lipoprotein particle remodeling|lipopolysaccharide transport|lipoprotein metabolic process|positive regulation of cholesterol storage|positive regulation of endothelial cell migration|positive regulation of nitric-oxide synthase activity|recognition of apoptotic cell|reverse cholesterol transport|triglyceride homeostasis|wound healing	caveola	1-phosphatidylinositol binding|apolipoprotein A-I binding|high-density lipoprotein particle receptor activity|lipopolysaccharide receptor activity|low-density lipoprotein particle binding|phosphatidylserine binding|transporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|prostate(1)	17	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000116)|Epithelial(86;0.000415)|all cancers(50;0.00395)	Phosphatidylserine(DB00144)	CCAGGAGGACGTACTGGGCAT	0.612													29	38					0	0	1	0	0	A	125270966	G	A	125270966	2	1	81	1	0	0	0	0	0	0	0	1	13934	1140	40	1		1	SCARB1	12	125270966	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	320235	125270966	8580929	10049	13665											
SCARB1	949	broad.mit.edu	37	12	125302182	125302182	+	Silent	SNP	G	G	A	rs138402577		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:125302182G>A	ENST00000339570.5	-	2	394	c.198C>T	c.(196-198)tcC>tcT	p.S66S	SCARB1_ENST00000535005.1_5'UTR|SCARB1_ENST00000541205.1_Silent_p.S25S|SCARB1_ENST00000540495.1_Silent_p.S29S|SCARB1_ENST00000546215.1_Silent_p.S66S|SCARB1_ENST00000261693.6_Silent_p.S66S|SCARB1_ENST00000544327.1_Silent_p.S12S|SCARB1_ENST00000376788.1_Intron|SCARB1_ENST00000415380.2_Silent_p.S66S	NM_001082959.1	NP_001076428.1	Q8WTV0	SCRB1_HUMAN	scavenger receptor class B, member 1	66					adhesion to symbiont|cell adhesion|cholesterol efflux|cholesterol homeostasis|cholesterol import|detection of lipopolysaccharide|high-density lipoprotein particle clearance|high-density lipoprotein particle remodeling|lipopolysaccharide transport|lipoprotein metabolic process|positive regulation of cholesterol storage|positive regulation of endothelial cell migration|positive regulation of nitric-oxide synthase activity|recognition of apoptotic cell|reverse cholesterol transport|triglyceride homeostasis|wound healing	caveola	1-phosphatidylinositol binding|apolipoprotein A-I binding|high-density lipoprotein particle receptor activity|lipopolysaccharide receptor activity|low-density lipoprotein particle binding|phosphatidylserine binding|transporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|prostate(1)	17	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000116)|Epithelial(86;0.000415)|all cancers(50;0.00395)	Phosphatidylserine(DB00144)	AGAAGTAGACGGAGAGATAGA	0.587													12	63					0	0	1	0	0	A	125302182	G	A	125302182	2	1	81	1	0	0	0	0	0	0	0	1	13934	1103	39	1		1	SCARB1	12	125302182	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	31216	125302182	8549713	10050	13666											
UBC	7316	broad.mit.edu	37	12	125396346	125396346	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:125396346G>T	ENST00000536769.1	-	1	3548	c.1972C>A	c.(1972-1974)Ctg>Atg	p.L658M	UBC_ENST00000339647.5_Missense_Mutation_p.L658M|UBC_ENST00000546120.1_Missense_Mutation_p.L582M|UBC_ENST00000538617.1_Missense_Mutation_p.L278M			P0CG48	UBC_HUMAN	ubiquitin C	658	Ubiquitin-like 9.				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding			breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		CCATCTTCCAGCTGTTTCCCA	0.517													6	146					0.0215528	0.0221217	1	1	0	T	125396346	G	T	125396346	3	4	81	1	0	0	0	0	1	0	0	0	16903	962	34	4	89	4	UBC	12	125396346	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	94164	125396346	8455549	10051	13667											
UBC	7316	broad.mit.edu	37	12	125397435	125397435	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:125397435G>T	ENST00000536769.1	-	1	2459	c.883C>A	c.(883-885)Ctg>Atg	p.L295M	UBC_ENST00000339647.5_Missense_Mutation_p.L295M|UBC_ENST00000546120.1_Missense_Mutation_p.L219M|UBC_ENST00000538617.1_Intron			P0CG48	UBC_HUMAN	ubiquitin C	295	Ubiquitin-like 4.				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding			breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		ACCAGGTGCAGGGTAGACTCT	0.547													52	97					8.27458e-37	1.10907e-36	1	1	0	T	125397435	G	T	125397435	3	4	81	1	0	0	0	0	1	0	0	0	16903	991	35	4	1178	4	UBC	12	125397435	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1089	125397435	8454460	10052	13668											
UBC	7316	broad.mit.edu	37	12	125398158	125398158	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:125398158G>A	ENST00000536769.1	-	1	1736	c.160C>T	c.(160-162)Cgc>Tgc	p.R54C	UBC_ENST00000339647.5_Missense_Mutation_p.R54C|UBC_ENST00000536661.1_5'UTR|UBC_ENST00000546120.1_Missense_Mutation_p.R54C|UBC_ENST00000538617.1_Missense_Mutation_p.R54C			P0CG48	UBC_HUMAN	ubiquitin C	54	Ubiquitin-like 1.				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding			breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		GACAGGGTGCGCCCATCTTCC	0.522													9	186					0	0	1	0	0	A	125398158	G	A	125398158	3	1	81	1	0	0	0	0	1	0	0	0	16903	1087	38	1	1901	1	UBC	12	125398158	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	723	125398158	8453737	10053	13669											
AACS	65985	broad.mit.edu	37	12	125587292	125587292	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:125587292A>C	ENST00000316519.6	+	6	844	c.638A>C	c.(637-639)aAt>aCt	p.N213T	AACS_ENST00000261686.6_Missense_Mutation_p.N213T	NM_023928.3	NP_076417.2	Q86V21	AACS_HUMAN	acetoacetyl-CoA synthetase	213					fatty acid metabolic process	cytosol	acetoacetate-CoA ligase activity|ATP binding			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|liver(1)|lung(16)|ovary(1)|stomach(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;9.82e-05)|Epithelial(86;0.000642)|all cancers(50;0.00843)		GTTGTCTATAATGGCAAAGAG	0.517													78	104					0	0	1	0	0	C	125587292	A	C	125587292	3	2	81	1	0	0	0	0	1	0	0	0	9	101	4	4	660	4	AACS	12	125587292	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	189134	125587292	8264603	10054	13670											
TMEM132B	114795	broad.mit.edu	37	12	126004064	126004064	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:126004064A>G	ENST00000299308.3	+	4	1179	c.1171A>G	c.(1171-1173)Att>Gtt	p.I391V		NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	391						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		GGCCCAGCAGATTACCTGGCA	0.502													7	70					0	0	1	0	0	G	126004064	A	G	126004064	3	3	81	1	0	0	0	0	1	0	0	0	16106	333	12	3	1185	3	TMEM132B	12	126004064	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	416772	126004064	7847831	10055	13671											
TMEM132B	114795	broad.mit.edu	37	12	126128633	126128633	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:126128633C>T	ENST00000299308.3	+	6	1442	c.1434C>T	c.(1432-1434)aaC>aaT	p.N478N	TMEM132B_ENST00000535886.1_5'UTR	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	478						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		TTTCCAACAACTGTGATTCCA	0.448													7	24					0	0	1	0	0	T	126128633	C	T	126128633	2	4	81	1	0	0	0	0	0	0	0	1	16106	564	20	2		2	TMEM132B	12	126128633	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	124569	126128633	7723262	10056	13672											
SLC15A4	121260	broad.mit.edu	37	12	129299482	129299482	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:129299482G>A	ENST00000266771.5	-	2	719	c.680C>T	c.(679-681)gCg>gTg	p.A227V	SLC15A4_ENST00000539703.1_5'UTR	NM_145648.3	NP_663623.1	Q8N697	S15A4_HUMAN	solute carrier family 15 (oligopeptide transporter), member 4	227					oligopeptide transport|protein transport	integral to membrane|lysosomal membrane	peptide:hydrogen symporter activity	p.A227V(1)		endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|skin(1)	22	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.69e-06)|Epithelial(86;1.17e-05)|all cancers(50;5.07e-05)		AGTGGGGATCGCATAACCAGT	0.498													43	72					0	0	1	0	0	A	129299482	G	A	129299482	3	1	81	1	0	0	0	0	1	0	0	0	14456	1087	38	1	1081	1	SLC15A4	12	129299482	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	3170849	129299482	4552413	10057	13673											
GLT1D1	144423	broad.mit.edu	37	12	129467473	129467473	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:129467473G>T	ENST00000442111.2	+	12	967		c.e12-1		GLT1D1_ENST00000281703.6_Splice_Site|GLT1D1_ENST00000537468.1_Splice_Site|GLT1D1_ENST00000542193.1_Splice_Site			Q96MS3	GL1D1_HUMAN	glycosyltransferase 1 domain containing 1						biosynthetic process	extracellular region	transferase activity, transferring glycosyl groups			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.97e-06)|Epithelial(86;3.97e-05)|all cancers(50;0.00019)		CTTTTTTGCAGGAGTTTGTTC	0.443													28	60					7.38237e-10	8.97233e-10	1	1	0	T	129467473	G	T	129467473	5	4	81	1	0	0	0	0	0	0	1	0	6507	1014	35	4	669	4	GLT1D1	12	129467473	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	167991	129467473	4384422	10058	13674											
TMEM132D	121256	broad.mit.edu	37	12	129558831	129558831	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:129558831G>T	ENST00000422113.2	-	9	3215	c.2889C>A	c.(2887-2889)gaC>gaA	p.D963E	TMEM132D_ENST00000389441.4_Missense_Mutation_p.D501E	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	963						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		ACCCAACCCAGTCATGAGAGT	0.468													12	97					0.000151284	0.000165917	1	1	0	T	129558831	G	T	129558831	3	4	81	1	0	0	0	0	1	0	0	0	16107	1020	36	4	414	4	TMEM132D	12	129558831	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	91358	129558831	4293064	10059	13675											
TMEM132D	121256	broad.mit.edu	37	12	130184368	130184368	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:130184368G>A	ENST00000422113.2	-	2	1281	c.955C>T	c.(955-957)Cgc>Tgc	p.R319C		NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	319						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		AACGTGAAGCGATCTTCAGTG	0.483													14	24					0	0	1	0	0	A	130184368	G	A	130184368	3	1	81	1	0	0	0	0	1	0	0	0	16107	1058	37	1	2376	1	TMEM132D	12	130184368	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	625537	130184368	3667527	10060	13676											
TMEM132D	121256	broad.mit.edu	37	12	130185167	130185167	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:130185167G>A	ENST00000422113.2	-	2	482	c.156C>T	c.(154-156)caC>caT	p.H52H		NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	52						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		CGTTGTTGATGTGGTAGGTCA	0.557													14	25					0	0	1	0	0	A	130185167	G	A	130185167	2	1	81	1	0	0	0	0	0	0	0	1	16107	1368	48	2		2	TMEM132D	12	130185167	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	799	130185167	3666728	10061	13677											
FZD10	11211	broad.mit.edu	37	12	130649218	130649218	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:130649218G>A	ENST00000229030.4	+	1	2215	c.1731G>A	c.(1729-1731)tcG>tcA	p.S577S	FZD10_ENST00000539839.1_3'UTR			Q9ULW2	FZD10_HUMAN	frizzled family receptor 10	577					brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development	cell projection|cell surface|cytoplasm|integral to plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1)	35	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)		CTGCCCAGTCGCCCACCTGCG	0.542													8	11					0	0	1	0	0	A	130649218	G	A	130649218	2	1	81	1	0	0	0	0	0	0	0	1	6164	1074	38	1		1	FZD10	12	130649218	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	464051	130649218	3202677	10062	13678											
PIWIL1	9271	broad.mit.edu	37	12	130846069	130846069	+	Silent	SNP	C	C	T	rs35377726	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:130846069C>T	ENST00000245255.3	+	16	2165	c.1893C>T	c.(1891-1893)atC>atT	p.I631I		NM_001190971.1|NM_004764.4	NP_001177900.1|NP_004755.2	Q96J94	PIWL1_HUMAN	piwi-like RNA-mediated gene silencing 1	631	Piwi.|RNA-binding (By similarity).				gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development	chromatoid body|P granule	mRNA binding|piRNA binding|protein binding			breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		TCGTTGGCATCGATTGTTACC	0.433													14	103					0	0	1	0	0	T	130846069	C	T	130846069	2	4	81	1	0	0	0	0	0	0	0	1	12005	874	31	1		1	PIWIL1	12	130846069	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	196851	130846069	3005826	10063	13679											
PIWIL1	9271	broad.mit.edu	37	12	130855859	130855859	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:130855859C>T	ENST00000245255.3	+	20	2732	c.2460C>T	c.(2458-2460)taC>taT	p.Y820Y	PIWIL1_ENST00000541480.1_3'UTR	NM_001190971.1|NM_004764.4	NP_001177900.1|NP_004755.2	Q96J94	PIWL1_HUMAN	piwi-like RNA-mediated gene silencing 1	820	Piwi.				gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development	chromatoid body|P granule	mRNA binding|piRNA binding|protein binding			breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		ACATCTATTACAACTGGCCAG	0.408													40	47					0	0	1	0	0	T	130855859	C	T	130855859	2	4	81	1	0	0	0	0	0	0	0	1	12005	489	17	2		2	PIWIL1	12	130855859	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	9790	130855859	2996036	10064	13680											
RIMBP2	23504	broad.mit.edu	37	12	130912849	130912849	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:130912849C>A	ENST00000261655.4	-	12	2399	c.2236G>T	c.(2236-2238)Gag>Tag	p.E746*		NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	746						cell junction|synapse				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		CGGCTGCTCTCTGTGTGGTAC	0.602													13	29					9.31168e-06	1.05369e-05	1	1	0	A	130912849	C	A	130912849	4	1	81	1	0	0	0	0	0	1	0	0	13413	922	32	4	954	4	RIMBP2	12	130912849	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	56990	130912849	2939046	10065	13681											
RIMBP2	23504	broad.mit.edu	37	12	130926933	130926933	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:130926933G>T	ENST00000261655.4	-	8	1076	c.913C>A	c.(913-915)Ctc>Atc	p.L305I	RIMBP2_ENST00000535703.1_Missense_Mutation_p.L213I|RIMBP2_ENST00000536002.1_Missense_Mutation_p.L213I	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	305	Fibronectin type-III 1.					cell junction|synapse				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		TGTTTGATGAGGGTGATTTTT	0.567													41	74					6.68952e-21	8.74624e-21	1	1	0	T	130926933	G	T	130926933	3	4	81	1	0	0	0	0	1	0	0	0	13413	1000	35	4	2293	4	RIMBP2	12	130926933	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	14084	130926933	2924962	10066	13682											
STX2	2054	broad.mit.edu	37	12	131291536	131291536	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:131291536G>A	ENST00000261653.6	-	6	620	c.454C>T	c.(454-456)Ctg>Ttg	p.L152L	STX2_ENST00000392373.2_Silent_p.L152L	NM_001980.3	NP_001971.2	P32856	STX2_HUMAN	syntaxin 2	152					acrosome reaction|ectoderm development|intracellular protein transport|organ morphogenesis|signal transduction	basolateral plasma membrane|integral to membrane|microsome|soluble fraction	calcium-dependent protein binding|SNAP receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)	16	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.79e-06)|all cancers(50;5.27e-05)|Epithelial(86;5.29e-05)		CTTATCTCCAGCTGGCGCTGG	0.478													25	53					0	0	1	0	0	A	131291536	G	A	131291536	2	1	81	1	0	0	0	0	0	0	0	1	15401	962	34	2		2	STX2	12	131291536	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	364603	131291536	2560359	10067	13683											
GPR133	283383	broad.mit.edu	37	12	131471764	131471764	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:131471764C>T	ENST00000261654.5	+	6	1174	c.615C>T	c.(613-615)aaC>aaT	p.N205N	GPR133_ENST00000535015.1_Silent_p.N237N	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	205					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		GAGAGTCCAACGTCAACCTCG	0.532													6	112					0	0	1	0	0	T	131471764	C	T	131471764	2	4	81	1	0	0	0	0	0	0	0	1	6683	535	19	1		1	GPR133	12	131471764	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	180228	131471764	2380131	10068	13684											
GPR133	283383	broad.mit.edu	37	12	131593422	131593422	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:131593422G>T	ENST00000261654.5	+	18	2600	c.2041G>T	c.(2041-2043)Ggt>Tgt	p.G681C	GPR133_ENST00000376682.4_Splice_Site_p.G367C|GPR133_ENST00000543617.1_Splice_Site_p.G200C|GPR133_ENST00000535015.1_Splice_Site_p.G713C	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	681					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		gatgggatggggtaggtgggg	0.622													25	30					2.98393e-07	3.48382e-07	1	1	0	T	131593422	G	T	131593422	5	4	81	1	0	0	0	0	0	0	1	0	6683	1246	43	5	2111	5	GPR133	12	131593422	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	121658	131593422	2258473	10069	13685											
PUS1	80324	broad.mit.edu	37	12	132426280	132426280	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:132426280G>A	ENST00000542167.2	+	4	1582	c.829G>A	c.(829-831)Gga>Aga	p.G277R	PUS1_ENST00000376649.3_Missense_Mutation_p.G330R|PUS1_ENST00000443358.2_Missense_Mutation_p.G302R|PUS1_ENST00000440818.2_Missense_Mutation_p.G302R|PUS1_ENST00000535067.1_Intron			Q9Y606	TRUA_HUMAN	pseudouridylate synthase 1	330						mitochondrion	pseudouridine synthase activity|pseudouridylate synthase activity|RNA binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	11	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.05e-08)|Epithelial(86;2.51e-07)|all cancers(50;2.94e-07)		CAAGGCGCCCGGACTCGGCCT	0.647													37	40					0	0	1	0	0	A	132426280	G	A	132426280	3	1	81	1	0	0	0	0	1	0	0	0	12882	1117	39	1	1006	1	PUS1	12	132426280	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	832858	132426280	1425615	10070	13686											
EP400	57634	broad.mit.edu	37	12	132448119	132448119	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:132448119G>A	ENST00000333577.4	+	3	1487	c.1378G>A	c.(1378-1380)Gtt>Att	p.V460I	EP400_ENST00000389561.2_Intron|EP400_ENST00000330386.6_Intron|EP400_ENST00000332482.4_Intron|EP400_ENST00000389562.2_Intron			Q96L91	EP400_HUMAN	E1A binding protein p400	460					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		TGGGACTCCCGTTGCTATAGC	0.423													10	19					0	0	1	0	0	A	132448119	G	A	132448119	3	1	81	1	0	0	0	0	1	0	0	0	5177	1160	40	1		1	EP400	12	132448119	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	21839	132448119	1403776	10071	13687											
EP400	57634	broad.mit.edu	37	12	132491285	132491285	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:132491285G>A	ENST00000333577.4	+	16	3384	c.3275G>A	c.(3274-3276)aGa>aAa	p.R1092K	EP400_ENST00000389561.2_Missense_Mutation_p.R1056K|EP400_ENST00000330386.6_Missense_Mutation_p.R1056K|EP400_ENST00000332482.4_Missense_Mutation_p.R1019K|EP400_ENST00000389562.2_Missense_Mutation_p.R1055K			Q96L91	EP400_HUMAN	E1A binding protein p400	1092	Interactions with RUVBL1 and RUVBL2.				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		GGGGCTCTCAGAGATTATCAG	0.428													27	36					0	0	1	0	0	A	132491285	G	A	132491285	3	1	81	1	0	0	0	0	1	0	0	0	5177	942	33	2	3218	2	EP400	12	132491285	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	43166	132491285	1360610	10072	13688											
EP400	57634	broad.mit.edu	37	12	132537755	132537755	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:132537755G>A	ENST00000333577.4	+	43	7676	c.7567G>A	c.(7567-7569)Gca>Aca	p.A2523T	EP400_ENST00000389561.2_Missense_Mutation_p.A2487T|EP400_ENST00000330386.6_Missense_Mutation_p.A2406T|EP400_ENST00000332482.4_Missense_Mutation_p.A2450T|EP400_ENST00000389562.2_Missense_Mutation_p.A2486T			Q96L91	EP400_HUMAN	E1A binding protein p400	2523					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		AGAGCGAATCGCAAAAGAGAA	0.537													28	46					0	0	1	0	0	A	132537755	G	A	132537755	3	1	81	1	0	0	0	0	1	0	0	0	5177	1087	38	1	7618	1	EP400	12	132537755	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	46470	132537755	1314140	10073	13689											
GALNT9	50614	broad.mit.edu	37	12	132681707	132681707	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:132681707C>A	ENST00000328957.8	-	11	1756	c.1757G>T	c.(1756-1758)aGg>aTg	p.R586M	GALNT9_ENST00000535228.1_Missense_Mutation_p.R337M|GALNT9_ENST00000541995.1_Missense_Mutation_p.R220M|GALNT9_ENST00000397325.2_Missense_Mutation_p.R220M	NM_001122636.1	NP_001116108.1	Q9HCQ5	GALT9_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 9 (GalNAc-T9)	586	Ricin B-type lectin.				protein O-linked glycosylation	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(1)|endometrium(1)|large_intestine(2)|lung(5)	9	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.241)		OV - Ovarian serous cystadenocarcinoma(86;7.49e-08)|Epithelial(86;3.55e-07)|all cancers(50;2.09e-05)		CCCCGAGCACCTCTGTACCAC	0.647													7	40					1.6384e-10	2.00851e-10	1	1	0	A	132681707	C	A	132681707	3	1	81	1	0	0	0	0	1	0	0	0	6260	681	24	4	58	4	GALNT9	12	132681707	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	143952	132681707	1170188	10074	13690											
GALNT9	50614	broad.mit.edu	37	12	132688117	132688117	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:132688117C>T	ENST00000328957.8	-	7	1195	c.1196G>A	c.(1195-1197)cGc>cAc	p.R399H	GALNT9_ENST00000535228.1_Missense_Mutation_p.R150H|GALNT9_ENST00000541995.1_Missense_Mutation_p.R33H|GALNT9_ENST00000397325.2_Missense_Mutation_p.R33H	NM_001122636.1	NP_001116108.1	Q9HCQ5	GALT9_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 9 (GalNAc-T9)	399					protein O-linked glycosylation	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(1)|endometrium(1)|large_intestine(2)|lung(5)	9	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.241)		OV - Ovarian serous cystadenocarcinoma(86;7.49e-08)|Epithelial(86;3.55e-07)|all cancers(50;2.09e-05)		CTCGGCGGCGCGCAGGGCGTT	0.637													25	31					0	0	1	0	0	T	132688117	C	T	132688117	3	4	81	1	0	0	0	0	1	0	0	0	6260	768	27	1	635	1	GALNT9	12	132688117	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	6410	132688117	1163778	10075	13691											
POLE	5426	broad.mit.edu	37	12	133201324	133201324	+	Missense_Mutation	SNP	G	G	T	rs148788180	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:133201324G>T	ENST00000320574.5	-	49	6863	c.6820C>A	c.(6820-6822)Ctg>Atg	p.L2274M	POLE_ENST00000535270.1_Missense_Mutation_p.L2247M	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	2274					base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		AGCCACTCCAGGGTCTCCAGG	0.607								DNA polymerases (catalytic subunits)					6	57					1.06961e-07	1.25755e-07	1	1	0	T	133201324	G	T	133201324	3	4	81	1	0	0	0	0	1	0	0	0	12244	991	35	4	44	4	POLE	12	133201324	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	513207	133201324	650571	10076	13692											
POLE	5426	broad.mit.edu	37	12	133201533	133201533	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:133201533G>A	ENST00000320574.5	-	48	6748	c.6705C>T	c.(6703-6705)taC>taT	p.Y2235Y	POLE_ENST00000535270.1_Silent_p.Y2208Y	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	2235					base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		CGCAGCTGCAGTACACAGGCA	0.672								DNA polymerases (catalytic subunits)					18	22					0	0	1	0	0	A	133201533	G	A	133201533	2	1	81	1	0	0	0	0	0	0	0	1	12244	1024	36	2		2	POLE	12	133201533	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	209	133201533	650362	10077	13693											
POLE	5426	broad.mit.edu	37	12	133202895	133202895	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:133202895G>A	ENST00000320574.5	-	46	6382	c.6339C>T	c.(6337-6339)tcC>tcT	p.S2113S	POLE_ENST00000535270.1_Silent_p.S2086S	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	2113					base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		TGGTGTCCAGGGACAGCACCT	0.607								DNA polymerases (catalytic subunits)					6	20					0	0	1	0	0	A	133202895	G	A	133202895	2	1	81	1	0	0	0	0	0	0	0	1	12244	1219	43	2		2	POLE	12	133202895	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1362	133202895	649000	10078	13694											
POLE	5426	broad.mit.edu	37	12	133219227	133219227	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:133219227A>T	ENST00000320574.5	-	37	4860	c.4817T>A	c.(4816-4818)tTc>tAc	p.F1606Y	POLE_ENST00000535270.1_Missense_Mutation_p.F1579Y	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	1606					base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		CACCAGTGGGAATTCCTCCAA	0.602								DNA polymerases (catalytic subunits)					8	43					0	0	1	0	0	T	133219227	A	T	133219227	3	4	81	1	0	0	0	0	1	0	0	0	12244	246	9	5	2095	5	POLE	12	133219227	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	16332	133219227	632668	10079	13695											
POLE	5426	broad.mit.edu	37	12	133219468	133219468	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:133219468G>A	ENST00000320574.5	-	36	4709	c.4666C>T	c.(4666-4668)Cgg>Tgg	p.R1556W	POLE_ENST00000535270.1_Missense_Mutation_p.R1529W	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	1556					base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		GTTTCTGCCCGAACTTCGAAG	0.607								DNA polymerases (catalytic subunits)					35	63					0	0	1	0	0	A	133219468	G	A	133219468	3	1	81	1	0	0	0	0	1	0	0	0	12244	1057	37	1	2250	1	POLE	12	133219468	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	241	133219468	632427	10080	13696											
POLE	5426	broad.mit.edu	37	12	133226432	133226432	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:133226432G>T	ENST00000320574.5	-	30	3669	c.3626C>A	c.(3625-3627)gCt>gAt	p.A1209D	POLE_ENST00000535270.1_Missense_Mutation_p.A1182D	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	1209					base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		CATGTCAGGAGCACTTGGCCT	0.597								DNA polymerases (catalytic subunits)					14	20					4.3838e-07	5.09097e-07	1	1	0	T	133226432	G	T	133226432	3	4	81	1	0	0	0	0	1	0	0	0	12244	971	34	4	3314	4	POLE	12	133226432	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	6964	133226432	625463	10081	13697											
POLE	5426	broad.mit.edu	37	12	133241015	133241015	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:133241015G>A	ENST00000320574.5	-	22	2545	c.2502C>T	c.(2500-2502)atC>atT	p.I834I	POLE_ENST00000535270.1_Silent_p.I807I	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	834					base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		TGAAGCAGACGATGCCAGCCA	0.627								DNA polymerases (catalytic subunits)					14	17					0	0	1	0	0	A	133241015	G	A	133241015	2	1	81	1	0	0	0	0	0	0	0	1	12244	1048	37	1		1	POLE	12	133241015	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	14583	133241015	610880	10082	13698											
POLE	5426	broad.mit.edu	37	12	133249410	133249410	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:133249410A>G	ENST00000320574.5	-	15	1532	c.1489T>C	c.(1489-1491)Tct>Cct	p.S497P	POLE_ENST00000535270.1_Missense_Mutation_p.S470P	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	497					base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		AGAGTGCCAGAGCCCTTCCGC	0.542								DNA polymerases (catalytic subunits)					6	15					0	0	1	0	0	G	133249410	A	G	133249410	3	3	81	1	0	0	0	0	1	0	0	0	12244	304	11	3	5511	3	POLE	12	133249410	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	8395	133249410	602485	10083	13699											
POLE	5426	broad.mit.edu	37	12	133253151	133253151	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:133253151G>T	ENST00000320574.5	-	9	933	c.890C>A	c.(889-891)tCc>tAc	p.S297Y	POLE_ENST00000535270.1_Missense_Mutation_p.S270Y	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	297					base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		GATCATGTAGGAAATCATCAT	0.527								DNA polymerases (catalytic subunits)					6	20					0.27861	0.279815	1	1	0	T	133253151	G	T	133253151	3	4	81	1	0	0	0	0	1	0	0	0	12244	1174	41	5	6134	5	POLE	12	133253151	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	3741	133253151	598744	10084	13700											
ANKLE2	23141	broad.mit.edu	37	12	133312047	133312047	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:133312047A>G	ENST00000539605.1	-	8	8143	c.1459T>C	c.(1459-1461)Ttc>Ctc	p.F487L	ANKLE2_ENST00000337516.5_Missense_Mutation_p.F549L|ANKLE2_ENST00000357997.5_Missense_Mutation_p.F549L			Q86XL3	ANKL2_HUMAN	ankyrin repeat and LEM domain containing 2	549						cytoplasm|integral to membrane|nuclear envelope				NS(2)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(20)|ovary(1)|urinary_tract(2)	45	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06)		TGGTGAAGGAAGCCTGCTTTC	0.527													5	124					0	0	1	0	0	G	133312047	A	G	133312047	3	3	81	1	0	0	0	0	1	0	0	0	629	72	3	3	1191	3	ANKLE2	12	133312047	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	58896	133312047	539848	10085	13701											
ANKLE2	23141	broad.mit.edu	37	12	133324479	133324479	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:133324479G>A	ENST00000539605.1	-	4	7667	c.983C>T	c.(982-984)gCc>gTc	p.A328V	ANKLE2_ENST00000337516.5_Missense_Mutation_p.A390V|ANKLE2_ENST00000357997.5_Missense_Mutation_p.A390V			Q86XL3	ANKL2_HUMAN	ankyrin repeat and LEM domain containing 2	390						cytoplasm|integral to membrane|nuclear envelope				NS(2)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(20)|ovary(1)|urinary_tract(2)	45	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06)		CTGCAGCATGGCCTCGTCGTC	0.542													22	35					0	0	1	0	0	A	133324479	G	A	133324479	3	1	81	1	0	0	0	0	1	0	0	0	629	1203	42	2	1683	2	ANKLE2	12	133324479	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	12432	133324479	527416	10086	13702											
ANKLE2	23141	broad.mit.edu	37	12	133327369	133327369	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:133327369C>T	ENST00000539605.1	-	2	7205	c.521G>A	c.(520-522)cGa>cAa	p.R174Q	ANKLE2_ENST00000337516.5_Missense_Mutation_p.R236Q|ANKLE2_ENST00000357997.5_Missense_Mutation_p.R236Q			Q86XL3	ANKL2_HUMAN	ankyrin repeat and LEM domain containing 2	236						cytoplasm|integral to membrane|nuclear envelope				NS(2)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(20)|ovary(1)|urinary_tract(2)	45	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06)		AGCTTTAAATCGGGACCCTTT	0.373													27	48					0	0	1	0	0	T	133327369	C	T	133327369	3	4	81	1	0	0	0	0	1	0	0	0	629	884	31	1	2153	1	ANKLE2	12	133327369	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2890	133327369	524526	10087	13703											
GOLGA3	2802	broad.mit.edu	37	12	133381515	133381515	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:133381515G>A	ENST00000204726.3	-	7	1942	c.1384C>T	c.(1384-1386)Cgg>Tgg	p.R462W	GOLGA3_ENST00000545875.1_Missense_Mutation_p.R462W|GOLGA3_ENST00000450791.2_Missense_Mutation_p.R462W|GOLGA3_ENST00000537452.1_Missense_Mutation_p.R462W|GOLGA3_ENST00000456883.2_Missense_Mutation_p.R462W	NM_005895.3	NP_005886.2	Q08378	GOGA3_HUMAN	golgin A3	462					intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity			breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		GAATCCTGCCGCTGCTGGCTG	0.612													26	26					0	0	1	0	0	A	133381515	G	A	133381515	3	1	81	1	0	0	0	0	1	0	0	0	6596	1086	38	1	3322	1	GOLGA3	12	133381515	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	54146	133381515	470380	10088	13704											
GOLGA3	2802	broad.mit.edu	37	12	133385045	133385045	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:133385045G>T	ENST00000204726.3	-	5	1168	c.610C>A	c.(610-612)Ctg>Atg	p.L204M	GOLGA3_ENST00000545875.1_Missense_Mutation_p.L204M|GOLGA3_ENST00000450791.2_Missense_Mutation_p.L204M|GOLGA3_ENST00000537452.1_Missense_Mutation_p.L204M|GOLGA3_ENST00000456883.2_Missense_Mutation_p.L204M	NM_005895.3	NP_005886.2	Q08378	GOGA3_HUMAN	golgin A3	204	Golgi-targeting domain.				intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity			breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		GTCATAGCCAGGGTACTGGCC	0.512													36	350					8.73648e-17	1.12305e-16	1	1	0	T	133385045	G	T	133385045	3	4	81	1	0	0	0	0	1	0	0	0	6596	991	35	4	4104	4	GOLGA3	12	133385045	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	3530	133385045	466850	10089	13705											
ZNF140	7699	broad.mit.edu	37	12	133682649	133682649	+	Silent	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:133682649A>T	ENST00000355557.2	+	5	2069	c.786A>T	c.(784-786)cgA>cgT	p.R262R	ZNF140_ENST00000544426.1_Silent_p.R159R|ZNF140_ENST00000440550.2_3'UTR	NM_003440.2	NP_003431.2	P52738	ZN140_HUMAN	zinc finger protein 140	262						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(1)|large_intestine(4)|lung(1)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	10	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;1.28e-06)|all_epithelial(31;0.0051)|Lung NSC(355;0.114)		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)		ACCTCACTCGACATCAAAGAA	0.413													19	24					0	0	1	0	0	T	133682649	A	T	133682649	2	4	81	1	0	0	0	0	0	0	0	1	17787	262	10	5		5	ZNF140	12	133682649	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	297604	133682649	169246	10090	13706											
ZNF140	7699	broad.mit.edu	37	12	133682774	133682774	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:133682774T>A	ENST00000355557.2	+	5	2194	c.911T>A	c.(910-912)aTt>aAt	p.I304N	ZNF140_ENST00000544426.1_Missense_Mutation_p.I201N|ZNF140_ENST00000440550.2_3'UTR	NM_003440.2	NP_003431.2	P52738	ZN140_HUMAN	zinc finger protein 140	304						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(1)|large_intestine(4)|lung(1)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	10	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;1.28e-06)|all_epithelial(31;0.0051)|Lung NSC(355;0.114)		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)		TATGAATGCATTGAATGTGGG	0.408													13	94					0	0	1	0	0	A	133682774	T	A	133682774	3	1	81	1	0	0	0	0	1	0	0	0	17787	1493	52	4	925	4	ZNF140	12	133682774	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	125	133682774	169121	10091	13707											
TUBA3C	7278	broad.mit.edu	37	13	19748045	19748045	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:19748045C>A	ENST00000400113.3	-	5	1415	c.1311G>T	c.(1309-1311)gtG>gtT	p.V437V		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	437					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		CCACGGAATCCACGCCCACCT	0.597													35	61					5.59293e-11	6.89508e-11	1	1	0	A	19748045	C	A	19748045	2	1	81	1	0	0	0	0	0	0	0	1	16808	581	21	5		5	TUBA3C	13	19748045	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08		19748045	95421833	10092	13708											
TUBA3C	7278	broad.mit.edu	37	13	19748151	19748151	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:19748151C>T	ENST00000400113.3	-	5	1309	c.1205G>A	c.(1204-1206)cGg>cAg	p.R402Q		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	402					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		CACAAAGGCCCGCTTGGCATA	0.612													7	101					0	0	1	0	0	T	19748151	C	T	19748151	3	4	81	1	0	0	0	0	1	0	0	0	16808	652	23	1	151	1	TUBA3C	13	19748151	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	106	19748151	95421727	10093	13709											
TUBA3C	7278	broad.mit.edu	37	13	19751365	19751365	+	Missense_Mutation	SNP	G	G	A	rs139914455		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:19751365G>A	ENST00000400113.3	-	4	862	c.758C>T	c.(757-759)aCg>aTg	p.T253M		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	253					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		CTGGAATTCCGTCAAGTCCAC	0.617													9	76					0	0	1	0	0	A	19751365	G	A	19751365	3	1	81	1	0	0	0	0	1	0	0	0	16808	1145	40	1	602	1	TUBA3C	13	19751365	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	3214	19751365	95418513	10094	13710											
PSPC1	55269	broad.mit.edu	37	13	20315777	20315777	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:20315777C>T	ENST00000338910.4	-	5	1139	c.980G>A	c.(979-981)cGt>cAt	p.R327H		NM_001042414.2	NP_001035879.1	Q8WXF1	PSPC1_HUMAN	paraspeckle component 1	327	Sufficient for paraspeckles localization.|Sufficient for perinucleolar caps localization and interaction with NONO.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nuclear matrix|nucleolus	nucleotide binding|protein binding|RNA binding			breast(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23		all_cancers(29;1.25e-22)|all_lung(29;1.97e-20)|all_epithelial(30;2.29e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;4.63e-06)|Epithelial(112;2.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00256)|Lung(94;0.00975)|LUSC - Lung squamous cell carcinoma(192;0.0483)		TTCTTCTTGACGCCTCATTAG	0.333													40	44					0	0	1	0	0	T	20315777	C	T	20315777	3	4	81	1	0	0	0	0	1	0	0	0	12765	536	19	1	611	1	PSPC1	13	20315777	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	564412	20315777	94854101	10095	13711											
ZMYM5	9205	broad.mit.edu	37	13	20398892	20398892	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:20398892A>G	ENST00000337963.4	-	8	1999	c.1735T>C	c.(1735-1737)Tta>Cta	p.L579L		NM_001142684.1	NP_001136156.1	Q9UJ78	ZMYM5_HUMAN	zinc finger, MYM-type 5	579						nucleus	zinc ion binding			kidney(1)|large_intestine(5)|lung(9)	15		all_cancers(29;2.96e-22)|all_epithelial(30;3.76e-20)|all_lung(29;4.38e-20)|Lung NSC(5;5.8e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.61e-05)|Epithelial(112;4.89e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00171)|Lung(94;0.00942)|LUSC - Lung squamous cell carcinoma(192;0.0431)		gaataaagtaaccaggatcta	0.323													4	6					0	0	1	0	0	G	20398892	A	G	20398892	2	3	81	1	0	0	0	0	0	0	0	1	17761	40	2	3		3	ZMYM5	13	20398892	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	83115	20398892	94770986	10096	13712											
ZMYM2	7750	broad.mit.edu	37	13	20577209	20577209	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:20577209C>A	ENST00000382869.3	+	4	1318	c.1067C>A	c.(1066-1068)tCt>tAt	p.S356Y	ZMYM2_ENST00000382881.3_Missense_Mutation_p.S269Y|ZMYM2_ENST00000382871.2_Missense_Mutation_p.S356Y|ZMYM2_ENST00000382874.2_Missense_Mutation_p.S356Y	NM_001190965.1|NM_003453.3|NM_197968.2	NP_001177894.1|NP_003444.1|NP_932072.1	Q9UBW7	ZMYM2_HUMAN	zinc finger, MYM-type 2	356					regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	ubiquitin conjugating enzyme binding|zinc ion binding			large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10		all_cancers(29;8.65e-21)|all_epithelial(30;1.04e-18)|all_lung(29;6.75e-18)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;0.000148)|Epithelial(112;0.000249)|OV - Ovarian serous cystadenocarcinoma(117;0.00816)|Lung(94;0.0173)|LUSC - Lung squamous cell carcinoma(192;0.0856)		CTCTTTTGTTCTACCACCTGC	0.398													11	17					0.000673444	0.000721718	1	1	0	A	20577209	C	A	20577209	3	1	81	1	0	0	0	0	1	0	0	0	17758	913	32	4	1073	4	ZMYM2	13	20577209	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	178317	20577209	94592669	10097	13713											
ZMYM2	7750	broad.mit.edu	37	13	20660111	20660111	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:20660111T>G	ENST00000382869.3	+	25	4342	c.4091T>G	c.(4090-4092)aTt>aGt	p.I1364S	ZMYM2_ENST00000382871.2_Missense_Mutation_p.I1364S|ZMYM2_ENST00000382874.2_Missense_Mutation_p.I1364S	NM_001190965.1|NM_003453.3|NM_197968.2	NP_001177894.1|NP_003444.1|NP_932072.1	Q9UBW7	ZMYM2_HUMAN	zinc finger, MYM-type 2	1364					regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	ubiquitin conjugating enzyme binding|zinc ion binding			large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10		all_cancers(29;8.65e-21)|all_epithelial(30;1.04e-18)|all_lung(29;6.75e-18)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;0.000148)|Epithelial(112;0.000249)|OV - Ovarian serous cystadenocarcinoma(117;0.00816)|Lung(94;0.0173)|LUSC - Lung squamous cell carcinoma(192;0.0856)		GTAAAAGATATTTATGATAAA	0.393													7	42					0	0	1	0	0	G	20660111	T	G	20660111	3	3	81	1	0	0	0	0	1	0	0	0	17758	1493	52	4	4181	4	ZMYM2	13	20660111	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	82902	20660111	94509767	10098	13714											
GJB6	10804	broad.mit.edu	37	13	20797204	20797204	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:20797204C>T	ENST00000356192.6	-	5	1036	c.416G>A	c.(415-417)aGc>aAc	p.S139N	GJB6_ENST00000241124.6_Missense_Mutation_p.S139N|GJB6_ENST00000400066.3_Missense_Mutation_p.S139N|GJB6_ENST00000400065.3_Missense_Mutation_p.S139N	NM_001110219.2	NP_001103689.1	O95452	CXB6_HUMAN	gap junction protein, beta 6, 30kDa	139			S -> G.		cell communication|sensory perception of sound	connexon complex|integral to membrane|intracellular membrane-bounded organelle				biliary_tract(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)	9		all_cancers(29;2.04e-22)|all_epithelial(30;1.19e-19)|all_lung(29;2.27e-18)|Lung SC(185;0.0257)|Ovarian(182;0.0822)		all cancers(112;2.17e-05)|Epithelial(112;0.00075)|OV - Ovarian serous cystadenocarcinoma(117;0.00978)|Lung(94;0.0238)|GBM - Glioblastoma multiforme(144;0.0323)|LUSC - Lung squamous cell carcinoma(192;0.0744)		GAAAAAGATGCTGCTGGTGTA	0.453													11	26					0	0	1	0	0	T	20797204	C	T	20797204	3	4	81	1	0	0	0	0	1	0	0	0	6454	797	28	2	373	2	GJB6	13	20797204	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	137093	20797204	94372674	10099	13715											
XPO4	64328	broad.mit.edu	37	13	21395934	21395934	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:21395934G>A	ENST00000400602.2	-	9	1117	c.1082C>T	c.(1081-1083)aCt>aTt	p.T361I	XPO4_ENST00000255305.6_Missense_Mutation_p.T361I	NM_022459.4	NP_071904.4	Q9C0E2	XPO4_HUMAN	exportin 4	361					protein transport	cytoplasm|nucleus	protein binding			breast(1)|endometrium(10)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	41		all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548)		TGGAATGGCAGTTAAAACATT	0.433													19	31					0	0	1	0	0	A	21395934	G	A	21395934	3	1	81	1	0	0	0	0	1	0	0	0	17506	1029	36	2	2433	2	XPO4	13	21395934	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	598730	21395934	93773944	10100	13716											
FGF9	2254	broad.mit.edu	37	13	22275412	22275412	+	Silent	SNP	C	C	T	rs143118647		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:22275412C>T	ENST00000382353.5	+	3	995	c.465C>T	c.(463-465)caC>caT	p.H155H	FGF9_ENST00000478546.1_3'UTR	NM_002010.2	NP_002001.1	P31371	FGF9_HUMAN	fibroblast growth factor 9	155					cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|male gonad development|positive regulation of cell division	extracellular space	growth factor activity|heparin binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|skin(2)	9		all_cancers(29;1.23e-20)|all_epithelial(30;9.83e-19)|all_lung(29;9.64e-17)|Lung SC(185;0.0262)|Breast(139;0.106)		all cancers(112;3.92e-05)|Epithelial(112;0.000166)|OV - Ovarian serous cystadenocarcinoma(117;0.00314)|Lung(94;0.163)		TATATAAGCACGTGGACACTG	0.388													7	64					0	0	1	0	0	T	22275412	C	T	22275412	2	4	81	1	0	0	0	0	0	0	0	1	5892	535	19	1		1	FGF9	13	22275412	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	879478	22275412	92894466	10101	13717											
SACS	26278	broad.mit.edu	37	13	23905037	23905037	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:23905037T>G	ENST00000382298.3	-	10	13566	c.12978A>C	c.(12976-12978)aaA>aaC	p.K4326N	SACS_ENST00000382292.3_Missense_Mutation_p.K4326N|SACS_ENST00000402364.1_Missense_Mutation_p.K3576N	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	4326	J.				cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		TAATAATCTTTTTTCGTTCCG	0.373													7	186					0	0	1	0	0	G	23905037	T	G	23905037	3	3	81	1	0	0	0	0	1	0	0	0	13856	1838	64	5	765	5	SACS	13	23905037	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	1629625	23905037	91264841	10102	13718											
SACS	26278	broad.mit.edu	37	13	23905914	23905914	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:23905914G>T	ENST00000382298.3	-	10	12689	c.12101C>A	c.(12100-12102)gCc>gAc	p.A4034D	SACS_ENST00000382292.3_Missense_Mutation_p.A4034D|SACS_ENST00000402364.1_Missense_Mutation_p.A3284D	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	4034					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		AAGTCTTATGGCTTTTTCTTC	0.353													20	44					1.10513e-12	1.38486e-12	1	1	0	T	23905914	G	T	23905914	3	4	81	1	0	0	0	0	1	0	0	0	13856	1203	42	5	1642	5	SACS	13	23905914	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	877	23905914	91263964	10103	13719											
SACS	26278	broad.mit.edu	37	13	23906959	23906959	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:23906959G>A	ENST00000382298.3	-	10	11644	c.11056C>T	c.(11056-11058)Cag>Tag	p.Q3686*	SACS_ENST00000382292.3_Nonsense_Mutation_p.Q3686*|SACS_ENST00000402364.1_Nonsense_Mutation_p.Q2936*	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	3686					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		GGATTTACCTGTGCTCCATTG	0.413													25	53					0	0	1	0	0	A	23906959	G	A	23906959	4	1	81	1	0	0	0	0	0	1	0	0	13856	1386	48	2	2687	2	SACS	13	23906959	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1045	23906959	91262919	10104	13720											
SACS	26278	broad.mit.edu	37	13	23907741	23907741	+	Missense_Mutation	SNP	T	T	C	rs147317123	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:23907741T>C	ENST00000382298.3	-	10	10862	c.10274A>G	c.(10273-10275)aAa>aGa	p.K3425R	SACS_ENST00000382292.3_Missense_Mutation_p.K3425R|SACS_ENST00000402364.1_Missense_Mutation_p.K2675R	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	3425					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		TGTTCCAAATTTTCCAATGCT	0.363													14	86					0	0	1	0	0	C	23907741	T	C	23907741	3	2	81	1	0	0	0	0	1	0	0	0	13856	1841	64	3	3469	3	SACS	13	23907741	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	782	23907741	91262137	10105	13721											
SACS	26278	broad.mit.edu	37	13	23909491	23909491	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:23909491T>C	ENST00000382298.3	-	10	9112	c.8524A>G	c.(8524-8526)Aac>Gac	p.N2842D	SACS_ENST00000382292.3_Missense_Mutation_p.N2842D|SACS_ENST00000402364.1_Missense_Mutation_p.N2092D	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	2842					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		ATATCTTGGTTCTTGTGAGCT	0.393													6	82					0	0	1	0	0	C	23909491	T	C	23909491	3	2	81	1	0	0	0	0	1	0	0	0	13856	1783	62	3	5219	3	SACS	13	23909491	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	1750	23909491	91260387	10106	13722											
SACS	26278	broad.mit.edu	37	13	23911012	23911012	+	Missense_Mutation	SNP	T	T	C	rs143414642	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:23911012T>C	ENST00000382298.3	-	10	7591	c.7003A>G	c.(7003-7005)Atg>Gtg	p.M2335V	SACS_ENST00000382292.3_Missense_Mutation_p.M2335V|SACS_ENST00000402364.1_Missense_Mutation_p.M1585V	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	2335					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		ATAATTGACATCTTAGTGATT	0.338													8	82					0	0	1	0	0	C	23911012	T	C	23911012	3	2	81	1	0	0	0	0	1	0	0	0	13856	1435	50	3	6740	3	SACS	13	23911012	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	1521	23911012	91258866	10107	13723											
SACS	26278	broad.mit.edu	37	13	23911318	23911318	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:23911318T>C	ENST00000382298.3	-	10	7285	c.6697A>G	c.(6697-6699)Agt>Ggt	p.S2233G	SACS_ENST00000382292.3_Missense_Mutation_p.S2233G|SACS_ENST00000402364.1_Missense_Mutation_p.S1483G	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	2233					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		GGCTTAAAACTGTTGCCTTTC	0.383													7	48					0	0	1	0	0	C	23911318	T	C	23911318	3	2	81	1	0	0	0	0	1	0	0	0	13856	1580	55	3	7046	3	SACS	13	23911318	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	306	23911318	91258560	10108	13724											
SACS	26278	broad.mit.edu	37	13	23912410	23912410	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:23912410C>A	ENST00000382298.3	-	10	6193	c.5605G>T	c.(5605-5607)Gag>Tag	p.E1869*	SACS_ENST00000382292.3_Nonsense_Mutation_p.E1869*|SACS_ENST00000402364.1_Nonsense_Mutation_p.E1119*	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	1869					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		CAAAACACCTCTCCAATGTGT	0.433													7	74					0.0293803	0.0300537	1	1	0	A	23912410	C	A	23912410	4	1	81	1	0	0	0	0	0	1	0	0	13856	922	32	4	8138	4	SACS	13	23912410	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1092	23912410	91257468	10109	13725											
SACS	26278	broad.mit.edu	37	13	23912848	23912848	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:23912848C>T	ENST00000382298.3	-	10	5755	c.5167G>A	c.(5167-5169)Gca>Aca	p.A1723T	SACS_ENST00000382292.3_Missense_Mutation_p.A1723T|SACS_ENST00000402364.1_Missense_Mutation_p.A973T	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	1723					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		GTGTTCAATGCTTTGGAAGAG	0.363													18	39					0	0	1	0	0	T	23912848	C	T	23912848	3	4	81	1	0	0	0	0	1	0	0	0	13856	797	28	2	8576	2	SACS	13	23912848	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	438	23912848	91257030	10110	13726											
SACS	26278	broad.mit.edu	37	13	23914982	23914982	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:23914982C>T	ENST00000382298.3	-	10	3621	c.3033G>A	c.(3031-3033)caG>caA	p.Q1011Q	SACS_ENST00000382292.3_Silent_p.Q1011Q|SACS_ENST00000402364.1_Silent_p.Q261Q	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	1011					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		ATAACATAAGCTGTGTTACCT	0.328													55	79					0	0	1	0	0	T	23914982	C	T	23914982	2	4	81	1	0	0	0	0	0	0	0	1	13856	796	28	2		2	SACS	13	23914982	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2134	23914982	91254896	10111	13727											
SACS	26278	broad.mit.edu	37	13	23915088	23915088	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:23915088C>T	ENST00000382298.3	-	10	3515	c.2927G>A	c.(2926-2928)cGt>cAt	p.R976H	SACS_ENST00000382292.3_Missense_Mutation_p.R976H|SACS_ENST00000402364.1_Missense_Mutation_p.R226H	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	976					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		GTTTGCCAGACGAATAGTAGC	0.348													37	40					0	0	1	0	0	T	23915088	C	T	23915088	3	4	81	1	0	0	0	0	1	0	0	0	13856	536	19	1	10816	1	SACS	13	23915088	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	106	23915088	91254790	10112	13728											
SACS	26278	broad.mit.edu	37	13	23929924	23929924	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:23929924C>T	ENST00000382298.3	-	8	1415	c.827G>A	c.(826-828)cGc>cAc	p.R276H	SACS_ENST00000382292.3_Missense_Mutation_p.R276H|SACS_ENST00000402364.1_5'UTR	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	276					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding	p.R129H(2)|p.R276H(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		AGGTTGTAGGCGAAGAGGGAA	0.413													18	37					0	0	1	0	0	T	23929924	C	T	23929924	3	4	81	1	0	0	0	0	1	0	0	0	13856	768	27	1	12924	1	SACS	13	23929924	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	14836	23929924	91239954	10113	13729											
SPATA13	221178	broad.mit.edu	37	13	24860369	24860369	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:24860369C>T	ENST00000424834.2	+	8	2792	c.2319C>T	c.(2317-2319)aaC>aaT	p.N773N	SPATA13_ENST00000409126.1_Silent_p.N70N|SPATA13_ENST00000399949.2_Silent_p.N70N|SPATA13_ENST00000382108.3_Silent_p.N773N|SPATA13_ENST00000343003.6_Silent_p.N92N|RP11-307N16.6_ENST00000382141.4_Silent_p.N651N|SPATA13_ENST00000382095.4_Silent_p.N148N			Q96N96	SPT13_HUMAN	spermatogenesis associated 13	148					cell migration|filopodium assembly|lamellipodium assembly|regulation of cell migration|regulation of Rho protein signal transduction	cytoplasm|filopodium|lamellipodium|ruffle membrane	protein binding|Rac guanyl-nucleotide exchange factor activity			breast(4)|endometrium(2)|large_intestine(9)|lung(4)|ovary(1)|prostate(1)|skin(2)	23		all_cancers(29;4.05e-15)|all_lung(29;2.77e-14)|all_epithelial(30;7.77e-13)|Lung SC(185;0.0279)		all cancers(112;0.00616)|Epithelial(112;0.0195)|OV - Ovarian serous cystadenocarcinoma(117;0.0705)|Lung(94;0.231)		GTGATGGCAACGTGGTCTGCG	0.587													42	61					0	0	1	0	0	T	24860369	C	T	24860369	2	4	81	1	0	0	0	0	0	0	0	1	15056	535	19	1		1	SPATA13	13	24860369	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	930445	24860369	90309509	10114	13730											
PARP4	143	broad.mit.edu	37	13	25009094	25009094	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:25009094G>A	ENST00000381989.3	-	31	4290	c.4185C>T	c.(4183-4185)ccC>ccT	p.P1395P		NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	1395					cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport	cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule	DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		TGCCACAATAGGGTGAAGAAG	0.552													16	22					0	0	1	0	0	A	25009094	G	A	25009094	2	1	81	1	0	0	0	0	0	0	0	1	11510	987	35	2		2	PARP4	13	25009094	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	148725	25009094	90160784	10115	13731											
PARP4	143	broad.mit.edu	37	13	25029234	25029234	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:25029234C>T	ENST00000381989.3	-	22	2784	c.2679G>A	c.(2677-2679)ttG>ttA	p.L893L		NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	893	VWFA.				cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport	cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule	DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		GCTTGGCTTGCAAGAATGTCA	0.517													21	96					0	0	1	0	0	T	25029234	C	T	25029234	2	4	81	1	0	0	0	0	0	0	0	1	11510	709	25	2		2	PARP4	13	25029234	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	20140	25029234	90140644	10116	13732											
PARP4	143	broad.mit.edu	37	13	25051995	25051995	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:25051995C>T	ENST00000381989.3	-	14	1738	c.1633G>A	c.(1633-1635)Gat>Aat	p.D545N		NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	545	PARP catalytic.				cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport	cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule	DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		AATTCATCATCCTAGAGCAAA	0.308													16	21					0	0	1	0	0	T	25051995	C	T	25051995	5	4	81	1	0	0	0	0	0	0	1	0	11510	869	30	2	3625	2	PARP4	13	25051995	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	22761	25051995	90117883	10117	13733											
PARP4	143	broad.mit.edu	37	13	25075813	25075813	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:25075813G>T	ENST00000381989.3	-	3	397	c.292C>A	c.(292-294)Ctg>Atg	p.L98M		NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	98					cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport	cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule	DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		GTGATGTCCAGGGGCTTATAA	0.418													8	115					2.52707e-12	3.15709e-12	1	1	0	T	25075813	G	T	25075813	3	4	81	1	0	0	0	0	1	0	0	0	11510	991	35	4	5010	4	PARP4	13	25075813	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	23818	25075813	90094065	10118	13734											
ATP12A	479	broad.mit.edu	37	13	25276209	25276209	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:25276209G>A	ENST00000218548.6	+	14	2369	c.2036G>A	c.(2035-2037)cGg>cAg	p.R679Q	ATP12A_ENST00000381946.3_Splice_Site_p.R673Q	NM_001185085.1|NM_001676.5	NP_001172014.1|NP_001667.4	P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	673					ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding			breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)	GTTAACAAACGGTAAGCACAG	0.458													21	31					0	0	1	0	0	A	25276209	G	A	25276209	5	1	81	1	0	0	0	0	0	0	1	0	1121	1130	39	1	2090	1	ATP12A	13	25276209	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	200396	25276209	89893669	10119	13735											
ATP12A	479	broad.mit.edu	37	13	25280490	25280490	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:25280490G>T	ENST00000218548.6	+	15	2409	c.2076G>T	c.(2074-2076)aaG>aaT	p.K692N	ATP12A_ENST00000381946.3_Missense_Mutation_p.K686N	NM_001185085.1|NM_001676.5	NP_001172014.1|NP_001667.4	P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	686					ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding			breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)	TGGAGCTGAAGGACATGAGCT	0.542													18	23					1.50039e-11	1.86073e-11	1	1	0	T	25280490	G	T	25280490	3	4	81	1	0	0	0	0	1	0	0	0	1121	991	35	4	2134	4	ATP12A	13	25280490	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	4281	25280490	89889388	10120	13736											
RNF17	56163	broad.mit.edu	37	13	25444764	25444764	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:25444764A>G	ENST00000255324.5	+	32	4386	c.4334A>G	c.(4333-4335)gAc>gGc	p.D1445G	RNF17_ENST00000381921.1_Missense_Mutation_p.D1403G|RNF17_ENST00000339524.3_Missense_Mutation_p.D455G	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	1445					multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		CAGCATAGTGACACAGATGAT	0.448													8	61					0	0	1	0	0	G	25444764	A	G	25444764	3	3	81	1	0	0	0	0	1	0	0	0	13513	275	10	3	4460	3	RNF17	13	25444764	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	164274	25444764	89725114	10121	13737											
CENPJ	55835	broad.mit.edu	37	13	25457323	25457323	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:25457323C>T	ENST00000381884.4	-	17	4194	c.4009G>A	c.(4009-4011)Gag>Aag	p.E1337K	CENPJ_ENST00000545981.1_3'UTR	NM_018451.4	NP_060921.3	Q9HC77	CENPJ_HUMAN	centromere protein J	1337					cell division|centriole replication|G2/M transition of mitotic cell cycle|microtubule nucleation|microtubule polymerization	centriole|cytosol|gamma-tubulin small complex|microtubule	protein domain specific binding|tubulin binding			endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)		CGTCACAGCTCCGTGTCCATT	0.378													36	67					0	0	1	0	0	T	25457323	C	T	25457323	3	4	81	1	0	0	0	0	1	0	0	0	3256	864	30	2	11	2	CENPJ	13	25457323	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	12559	25457323	89712555	10122	13738											
CENPJ	55835	broad.mit.edu	37	13	25480611	25480611	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:25480611C>A	ENST00000381884.4	-	7	1750	c.1565G>T	c.(1564-1566)gGt>gTt	p.G522V	CENPJ_ENST00000545981.1_Missense_Mutation_p.G522V	NM_018451.4	NP_060921.3	Q9HC77	CENPJ_HUMAN	centromere protein J	522					cell division|centriole replication|G2/M transition of mitotic cell cycle|microtubule nucleation|microtubule polymerization	centriole|cytosol|gamma-tubulin small complex|microtubule	protein domain specific binding|tubulin binding			endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)		TCTGTCTTTACCTTGTGTCTT	0.443													37	50					3.33393e-15	4.2498e-15	1	1	0	A	25480611	C	A	25480611	3	1	81	1	0	0	0	0	1	0	0	0	3256	507	18	5	2495	5	CENPJ	13	25480611	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	23288	25480611	89689267	10123	13739											
CENPJ	55835	broad.mit.edu	37	13	25480710	25480710	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:25480710A>G	ENST00000381884.4	-	7	1651	c.1466T>C	c.(1465-1467)aTc>aCc	p.I489T	CENPJ_ENST00000545981.1_Missense_Mutation_p.I489T	NM_018451.4	NP_060921.3	Q9HC77	CENPJ_HUMAN	centromere protein J	489					cell division|centriole replication|G2/M transition of mitotic cell cycle|microtubule nucleation|microtubule polymerization	centriole|cytosol|gamma-tubulin small complex|microtubule	protein domain specific binding|tubulin binding			endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)		TTCAAATTTGATCTGGTCTCT	0.398													6	82					0	0	1	0	0	G	25480710	A	G	25480710	3	3	81	1	0	0	0	0	1	0	0	0	3256	333	12	3	2594	3	CENPJ	13	25480710	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	99	25480710	89689168	10124	13740											
CENPJ	55835	broad.mit.edu	37	13	25487072	25487072	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:25487072A>G	ENST00000381884.4	-	2	277	c.92T>C	c.(91-93)tTa>tCa	p.L31S	CENPJ_ENST00000545981.1_Missense_Mutation_p.L31S	NM_018451.4	NP_060921.3	Q9HC77	CENPJ_HUMAN	centromere protein J	31					cell division|centriole replication|G2/M transition of mitotic cell cycle|microtubule nucleation|microtubule polymerization	centriole|cytosol|gamma-tubulin small complex|microtubule	protein domain specific binding|tubulin binding			endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)		TCCACGATTTAATATGACCCC	0.448													23	33					0	0	1	0	0	G	25487072	A	G	25487072	3	3	81	1	0	0	0	0	1	0	0	0	3256	372	13	3	3988	3	CENPJ	13	25487072	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	6362	25487072	89682806	10125	13741											
PABPC3	5042	broad.mit.edu	37	13	25671892	25671892	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:25671892G>A	ENST00000281589.3	+	1	1593	c.1556G>A	c.(1555-1557)cGt>cAt	p.R519H		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	519					mRNA metabolic process	cytoplasm	nucleotide binding|poly(A) RNA binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		CAGCAACATCGTAATGCACAG	0.537													18	46					0	0	1	0	0	A	25671892	G	A	25671892	3	1	81	1	0	0	0	0	1	0	0	0	11412	1145	40	1	1558	1	PABPC3	13	25671892	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	184820	25671892	89497986	10126	13742											
ATP8A2	51761	broad.mit.edu	37	13	26043137	26043137	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:26043137C>T	ENST00000381655.2	+	2	241	c.99C>T	c.(97-99)ggC>ggT	p.G33G	ATP8A2_ENST00000255283.8_5'UTR	NM_016529.4	NP_057613.4	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8A, member 2	0					ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		CTTCTTTGGGCTATAAGAAGG	0.602													23	24					0	0	1	0	0	T	26043137	C	T	26043137	2	4	81	1	0	0	0	0	0	0	0	1	1191	784	28	2		2	ATP8A2	13	26043137	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	371245	26043137	89126741	10127	13743											
ATP8A2	51761	broad.mit.edu	37	13	26112196	26112196	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:26112196C>T	ENST00000381655.2	+	7	720	c.578C>T	c.(577-579)tCc>tTc	p.S193F	ATP8A2_ENST00000255283.8_Missense_Mutation_p.S153F	NM_016529.4	NP_057613.4	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8A, member 2	153					ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		CTGCTGTCATCCAGGTTAGCT	0.493													15	21					0	0	1	0	0	T	26112196	C	T	26112196	3	4	81	1	0	0	0	0	1	0	0	0	1191	855	30	2	604	2	ATP8A2	13	26112196	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	69059	26112196	89057682	10128	13744											
RNF6	6049	broad.mit.edu	37	13	26788928	26788928	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:26788928T>C	ENST00000381588.4	-	5	1843	c.1091A>G	c.(1090-1092)tAt>tGt	p.Y364C	RNF6_ENST00000399762.2_Intron|RNF6_ENST00000468480.1_Intron|RNF6_ENST00000346166.3_Missense_Mutation_p.Y364C|RNF6_ENST00000381570.3_Missense_Mutation_p.Y364C	NM_005977.3	NP_005968.1	Q9Y252	RNF6_HUMAN	ring finger protein (C3H2C3 type) 6	364	Arg-rich.				negative regulation of axon extension|positive regulation of transcription, DNA-dependent|protein K27-linked ubiquitination|protein K48-linked ubiquitination|protein K6-linked ubiquitination|regulation of androgen receptor signaling pathway|ubiquitin-dependent protein catabolic process	axon|cytoplasm|PML body	androgen receptor binding|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(3)|ovary(2)|prostate(2)|skin(2)	23	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.00893)|Epithelial(112;0.0481)|OV - Ovarian serous cystadenocarcinoma(117;0.148)|GBM - Glioblastoma multiforme(144;0.23)|Lung(94;0.245)		GAATGGGGTATATGCAGTACC	0.438													4	55					0	0	1	0	0	C	26788928	T	C	26788928	3	2	81	1	0	0	0	0	1	0	0	0	13550	1406	49	3	970	3	RNF6	13	26788928	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	676732	26788928	88380950	10129	13745											
RNF6	6049	broad.mit.edu	37	13	26792679	26792679	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:26792679C>A	ENST00000381588.4	-	4	1010	c.258G>T	c.(256-258)caG>caT	p.Q86H	RNF6_ENST00000399762.2_5'UTR|RNF6_ENST00000468480.1_5'UTR|RNF6_ENST00000346166.3_Missense_Mutation_p.Q86H|RNF6_ENST00000381570.3_Missense_Mutation_p.Q86H	NM_005977.3	NP_005968.1	Q9Y252	RNF6_HUMAN	ring finger protein (C3H2C3 type) 6	86					negative regulation of axon extension|positive regulation of transcription, DNA-dependent|protein K27-linked ubiquitination|protein K48-linked ubiquitination|protein K6-linked ubiquitination|regulation of androgen receptor signaling pathway|ubiquitin-dependent protein catabolic process	axon|cytoplasm|PML body	androgen receptor binding|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(3)|ovary(2)|prostate(2)|skin(2)	23	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.00893)|Epithelial(112;0.0481)|OV - Ovarian serous cystadenocarcinoma(117;0.148)|GBM - Glioblastoma multiforme(144;0.23)|Lung(94;0.245)		TCAAGTCAGGCTGAGATGCTA	0.408													37	79					1.32136e-16	1.69748e-16	1	1	0	A	26792679	C	A	26792679	3	1	81	1	0	0	0	0	1	0	0	0	13550	796	28	4	1807	4	RNF6	13	26792679	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3751	26792679	88377199	10130	13746											
WASF3	10810	broad.mit.edu	37	13	27250735	27250735	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:27250735A>C	ENST00000335327.5	+	7	768	c.590A>C	c.(589-591)aAa>aCa	p.K197T	WASF3_ENST00000496788.1_3'UTR|WASF3_ENST00000361042.4_Intron	NM_006646.5	NP_006637.2	Q9UPY6	WASF3_HUMAN	WAS protein family, member 3	197					actin filament polymerization	cytoplasm|cytoskeleton	actin binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|skin(2)	22	Colorectal(5;0.000247)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155)		AAGGTTAGAAAAGCCAGAAAC	0.488													11	25					0	0	1	0	0	C	27250735	A	C	27250735	3	2	81	1	0	0	0	0	1	0	0	0	17314	14	1	5	608	5	WASF3	13	27250735	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	458056	27250735	87919143	10131	13747											
USP12	219333	broad.mit.edu	37	13	27649407	27649407	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:27649407G>A	ENST00000282344.6	-	7	1109	c.853C>T	c.(853-855)Cgt>Tgt	p.R285C		NM_182488.3	NP_872294.2	O75317	UBP12_HUMAN	ubiquitin specific peptidase 12	285					protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Lung SC(185;0.0161)		all cancers(112;0.0508)|GBM - Glioblastoma multiforme(144;0.168)|Epithelial(112;0.244)|OV - Ovarian serous cystadenocarcinoma(117;0.246)		TTAAACAGACGAAGTTCTAAA	0.423													16	34					0	0	1	0	0	A	27649407	G	A	27649407	3	1	81	1	0	0	0	0	1	0	0	0	17103	1058	37	1	271	1	USP12	13	27649407	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	398672	27649407	87520471	10132	13748											
MTIF3	219402	broad.mit.edu	37	13	28009965	28009965	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:28009965T>C	ENST00000381116.1	-	7	918	c.684A>G	c.(682-684)caA>caG	p.Q228Q	MTIF3_ENST00000431572.2_Silent_p.Q228Q|MTIF3_ENST00000405591.2_Silent_p.Q228Q|MTIF3_ENST00000461838.1_5'UTR|MTIF3_ENST00000381120.3_Silent_p.Q228Q			Q9H2K0	IF3M_HUMAN	mitochondrial translational initiation factor 3	228					regulation of translational initiation|ribosome disassembly	mitochondrion	ribosomal small subunit binding|translation initiation factor activity			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	7		Lung SC(185;0.0161)	Colorectal(13;0.00042)|READ - Rectum adenocarcinoma(15;0.105)	all cancers(112;0.108)|OV - Ovarian serous cystadenocarcinoma(117;0.157)		CTTGAACAGCTTGTGGCCTAG	0.383													13	100					0	0	1	0	0	C	28009965	T	C	28009965	2	2	81	1	0	0	0	0	0	0	0	1	9983	1606	56	3		3	MTIF3	13	28009965	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	360558	28009965	87159913	10133	13749											
LNX2	222484	broad.mit.edu	37	13	28127484	28127484	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:28127484C>T	ENST00000316334.3	-	8	1768	c.1639G>A	c.(1639-1641)Gct>Act	p.A547T		NM_153371.3	NP_699202.1	Q8N448	LNX2_HUMAN	ligand of numb-protein X 2	547	PDZ 3.						zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	31		Lung SC(185;0.0156)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.113)|all cancers(112;0.127)|Epithelial(112;0.248)		AGGGCAACAGCAGGGGACGCG	0.498													17	44					0	0	1	0	0	T	28127484	C	T	28127484	3	4	81	1	0	0	0	0	1	0	0	0	8907	710	25	2	445	2	LNX2	13	28127484	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	117519	28127484	87042394	10134	13750											
LNX2	222484	broad.mit.edu	37	13	28136762	28136762	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:28136762A>G	ENST00000316334.3	-	5	1141	c.1012T>C	c.(1012-1014)Ttc>Ctc	p.F338L		NM_153371.3	NP_699202.1	Q8N448	LNX2_HUMAN	ligand of numb-protein X 2	338							zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	31		Lung SC(185;0.0156)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.113)|all cancers(112;0.127)|Epithelial(112;0.248)		GCCACTTGGAAAATCTCTTCT	0.488													4	57					0	0	1	0	0	G	28136762	A	G	28136762	3	3	81	1	0	0	0	0	1	0	0	0	8907	14	1	3	1084	3	LNX2	13	28136762	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	9278	28136762	87033116	10135	13751											
CDX2	1045	broad.mit.edu	37	13	28537431	28537431	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:28537431G>A	ENST00000381020.7	-	3	2895	c.763C>T	c.(763-765)Cag>Tag	p.Q255*	CDX2_ENST00000548877.1_5'UTR	NM_001265.4	NP_001256.3	Q99626	CDX2_HUMAN	caudal type homeobox 2	255	Poly-Gln.				organ morphogenesis|transcription from RNA polymerase II promoter		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(1)|lung(6)	9	all_cancers(110;0.191)|all_hematologic(3;0.0447)|Acute lymphoblastic leukemia(6;0.155)	Lung SC(185;0.0156)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	GBM - Glioblastoma multiforme(144;0.0407)|all cancers(112;0.0491)|OV - Ovarian serous cystadenocarcinoma(117;0.199)		GGTGgctgctgctgctgttgc	0.552			T	ETV6	AML								16	12					0	0	1	0	0	A	28537431	G	A	28537431	4	1	81	1	0	0	0	0	0	1	0	0	3205	1328	46	2	182	2	CDX2	13	28537431	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	400669	28537431	86632447	10136	13752											
FLT3	2322	broad.mit.edu	37	13	28592603	28592603	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:28592603C>T	ENST00000380982.4	-	20	2623	c.2542G>A	c.(2542-2544)Gtg>Atg	p.V848M	FLT3_ENST00000537084.1_Intron|FLT3_ENST00000241453.7_Splice_Site			P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	847	Protein kinase.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Sorafenib(DB00398)|Sunitinib(DB01268)	AGCAGCCTCACATTGCCCCTG	0.423			"Mis, O"		"AML, ALL"								14	35					0	0	1	0	0	T	28592603	C	T	28592603	3	4	81	1	0	0	0	0	1	0	0	0	5975	492	17	2	459	2	FLT3	13	28592603	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	55172	28592603	86577275	10137	13753											
FLT3	2322	broad.mit.edu	37	13	28608053	28608053	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:28608053G>A	ENST00000380982.4	-	15	1994	c.1913C>T	c.(1912-1914)tCa>tTa	p.S638L	FLT3_ENST00000537084.1_Missense_Mutation_p.S638L|FLT3_ENST00000241453.7_Missense_Mutation_p.S638L			P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	638	Protein kinase.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Sorafenib(DB00398)|Sunitinib(DB01268)	AACCTGGATTGAGACTCCTGT	0.453			"Mis, O"		"AML, ALL"								59	136					0	0	1	0	0	A	28608053	G	A	28608053	3	1	81	1	0	0	0	0	1	0	0	0	5975	1294	45	2	1108	2	FLT3	13	28608053	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	15450	28608053	86561825	10138	13754											
FLT1	2321	broad.mit.edu	37	13	28877367	28877367	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:28877367G>A	ENST00000282397.4	-	30	4205	c.3954C>T	c.(3952-3954)atC>atT	p.I1318I	FLT1_ENST00000540678.1_Silent_p.I536I|FLT1_ENST00000543394.1_Silent_p.I341I	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	1318					cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	AGCAGCACGCGATTTTCCTTT	0.567													22	46					0	0	1	0	0	A	28877367	G	A	28877367	2	1	81	1	0	0	0	0	0	0	0	1	5974	1048	37	1		1	FLT1	13	28877367	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	269314	28877367	86292511	10139	13755											
FLT1	2321	broad.mit.edu	37	13	28908200	28908200	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:28908200G>T	ENST00000282397.4	-	18	2806	c.2555C>A	c.(2554-2556)tCa>tAa	p.S852*	FLT1_ENST00000540678.1_Nonsense_Mutation_p.S70*	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	852	Protein kinase.				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	GCACGTAGGTGATTTCTTAAT	0.433													77	99					9.35569e-46	1.25816e-45	1	1	0	T	28908200	G	T	28908200	4	4	81	1	0	0	0	0	0	1	0	0	5974	1294	45	5	1513	5	FLT1	13	28908200	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	30833	28908200	86261678	10140	13756											
FLT1	2321	broad.mit.edu	37	13	28964134	28964134	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:28964134T>A	ENST00000282397.4	-	13	2019	c.1768A>T	c.(1768-1770)Att>Ttt	p.I590F	FLT1_ENST00000541932.1_Missense_Mutation_p.I590F	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	590	Ig-like C2-type 6.				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	CGCAGTAAAATCCAAGTAACG	0.393													45	60					0	0	1	0	0	A	28964134	T	A	28964134	3	1	81	1	0	0	0	0	1	0	0	0	5974	1435	50	4	2505	4	FLT1	13	28964134	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	55934	28964134	86205744	10141	13757											
POMP	51371	broad.mit.edu	37	13	29242705	29242705	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:29242705G>T	ENST00000380842.4	+	4	339	c.258G>T	c.(256-258)gtG>gtT	p.V86V	POMP_ENST00000460403.1_3'UTR	NM_015932.5	NP_057016.1	Q9Y244	POMP_HUMAN	proteasome maturation protein	86					proteasome assembly	cytosol|endoplasmic reticulum|membrane|microsome|nucleus|proteasome complex				endometrium(2)|kidney(1)|large_intestine(1)	4		Lung SC(185;0.0367)		all cancers(112;0.141)|OV - Ovarian serous cystadenocarcinoma(117;0.216)		TCAAGGCAGTGCAGCAGGTGA	0.378													6	40					3.59834e-05	3.99423e-05	1	1	0	T	29242705	G	T	29242705	2	4	81	1	0	0	0	0	0	0	0	1	12292	1306	46	5		5	POMP	13	29242705	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	278571	29242705	85927173	10142	13758											
MTUS2	23281	broad.mit.edu	37	13	29608054	29608054	+	Nonsense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:29608054T>A	ENST00000431530.3	+	2	2326	c.2268T>A	c.(2266-2268)tgT>tgA	p.C756*		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	746	Mediates interaction with MAPRE1.					cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						AAGAGTTTTGTTCTCCTCCCT	0.443													11	19					0	0	1	0	0	A	29608054	T	A	29608054	4	1	81	1	0	0	0	0	0	1	0	0	10014	1731	60	5	2274	5	MTUS2	13	29608054	Nonsense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	365349	29608054	85561824	10143	13759											
MTUS2	23281	broad.mit.edu	37	13	29933491	29933491	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:29933491C>T	ENST00000431530.3	+	6	3086	c.3028C>T	c.(3028-3030)Cgg>Tgg	p.R1010W		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	1000	Localization to the growing distal tip of microtubules.					cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						GCTGGTGCTGCGGCTGAAGGA	0.657													5	2					0	0	1	0	0	T	29933491	C	T	29933491	3	4	81	1	0	0	0	0	1	0	0	0	10014	759	27	1	3050	1	MTUS2	13	29933491	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	325437	29933491	85236387	10144	13760											
SLC7A1	6541	broad.mit.edu	37	13	30097549	30097549	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:30097549G>A	ENST00000380752.5	-	7	1289	c.903C>T	c.(901-903)taC>taT	p.Y301Y		NM_003045.4	NP_003036.1	P30825	CTR1_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 1	301					cellular nitrogen compound metabolic process|ion transport	integral to plasma membrane	receptor activity			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|stomach(1)|urinary_tract(2)	24		Lung SC(185;0.0257)|Breast(139;0.238)		all cancers(112;0.0148)|OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(112;0.0875)|GBM - Glioblastoma multiforme(144;0.179)	L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	ACACCCCAAAGTAGGCGATGA	0.597													24	26					0	0	1	0	0	A	30097549	G	A	30097549	2	1	81	1	0	0	0	0	0	0	0	1	14747	1024	36	2		2	SLC7A1	13	30097549	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	164058	30097549	85072329	10145	13761											
SLC7A1	6541	broad.mit.edu	37	13	30110258	30110258	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:30110258C>T	ENST00000380752.5	-	3	454	c.68G>A	c.(67-69)cGg>cAg	p.R23Q		NM_003045.4	NP_003036.1	P30825	CTR1_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 1	23				R -> P (in Ref. 2; CAA40560).	cellular nitrogen compound metabolic process|ion transport	integral to plasma membrane	receptor activity			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|stomach(1)|urinary_tract(2)	24		Lung SC(185;0.0257)|Breast(139;0.238)		all cancers(112;0.0148)|OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(112;0.0875)|GBM - Glioblastoma multiforme(144;0.179)	L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	CGTCTCCTCCCGGCTACAGTC	0.587													18	29					0	0	1	0	0	T	30110258	C	T	30110258	3	4	81	1	0	0	0	0	1	0	0	0	14747	652	23	1	1865	1	SLC7A1	13	30110258	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	12709	30110258	85059620	10146	13762											
KATNAL1	84056	broad.mit.edu	37	13	30829592	30829592	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:30829592C>A	ENST00000380615.3	-	4	651	c.484G>T	c.(484-486)Gat>Tat	p.D162Y	KATNAL1_ENST00000380617.3_Missense_Mutation_p.D162Y	NM_032116.4	NP_115492.1	Q9BW62	KATL1_HUMAN	katanin p60 subunit A-like 1	162						cytoplasm|microtubule	ATP binding|microtubule-severing ATPase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|skin(1)|urinary_tract(3)	19		Lung SC(185;0.0257)		all cancers(112;0.114)|OV - Ovarian serous cystadenocarcinoma(117;0.213)		GCCTTGTCATCTCTCCCTCTT	0.463													80	165					6.14238e-36	8.2292e-36	1	1	0	A	30829592	C	A	30829592	3	1	81	1	0	0	0	0	1	0	0	0	8029	913	32	4	1020	4	KATNAL1	13	30829592	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	719334	30829592	84340286	10147	13763											
ALOX5AP	241	broad.mit.edu	37	13	31309770	31309770	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:31309770G>A	ENST00000380490.3	+	1	126	c.28G>A	c.(28-30)Gtc>Atc	p.V10I		NM_001204406.1|NM_001629.3	NP_001191335.1|NP_001620.2	P20292	AL5AP_HUMAN	arachidonate 5-lipoxygenase-activating protein	10					cellular response to calcium ion|leukotriene biosynthetic process|leukotriene production involved in inflammatory response|protein homotrimerization	endoplasmic reticulum membrane|integral to membrane|microsome|nuclear membrane	arachidonic acid binding|protein N-terminus binding			endometrium(1)|large_intestine(1)|ovary(1)|prostate(1)	4		Lung SC(185;0.0257)|Breast(139;0.203)		all cancers(112;0.0187)|Epithelial(112;0.0803)|OV - Ovarian serous cystadenocarcinoma(117;0.0864)		AGGCAATGTTGTCCTGTTGGC	0.522													13	9					0	0	1	0	0	A	31309770	G	A	31309770	3	1	81	1	0	0	0	0	1	0	0	0	537	1377	48	2	30	2	ALOX5AP	13	31309770	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	480178	31309770	83860108	10148	13764											
HSPH1	10808	broad.mit.edu	37	13	31725128	31725128	+	Silent	SNP	G	G	A	rs144091980		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:31725128G>A	ENST00000320027.5	-	7	1208	c.864C>T	c.(862-864)atC>atT	p.I288I	HSPH1_ENST00000429785.2_Silent_p.I107I|HSPH1_ENST00000445273.2_Silent_p.I290I|HSPH1_ENST00000380406.5_Silent_p.I247I|HSPH1_ENST00000380405.4_Silent_p.I288I	NM_006644.2	NP_006635.2	Q92598	HS105_HUMAN	heat shock 105kDa/110kDa protein 1	288					positive regulation of MHC class I biosynthetic process|positive regulation of NK T cell activation|response to unfolded protein	cytoplasm|extracellular region	ATP binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27		Lung SC(185;0.0257)		all cancers(112;0.00385)|Epithelial(112;0.0328)|OV - Ovarian serous cystadenocarcinoma(117;0.0375)|GBM - Glioblastoma multiforme(144;0.125)		TAAAGCATTCGATATTCAGTG	0.373													12	34					0	0	1	0	0	A	31725128	G	A	31725128	2	1	81	1	0	0	0	0	0	0	0	1	7475	1048	37	1		1	HSPH1	13	31725128	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	415358	31725128	83444750	10149	13765											
B3GALTL	145173	broad.mit.edu	37	13	31797128	31797128	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:31797128G>T	ENST00000343307.4	+	3	309	c.160G>T	c.(160-162)Gac>Tac	p.D54Y		NM_194318.3	NP_919299.3	Q6Y288	B3GLT_HUMAN	beta 1,3-galactosyltransferase-like	54					fucose metabolic process	endoplasmic reticulum membrane|integral to membrane	transferase activity, transferring glycosyl groups			breast(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19		Lung SC(185;0.0257)		all cancers(112;0.00436)|Epithelial(112;0.0285)|OV - Ovarian serous cystadenocarcinoma(117;0.0512)|GBM - Glioblastoma multiforme(144;0.184)		AAATGACATAGGTAAGTAATG	0.289													9	28					2.17888e-05	2.43576e-05	1	1	0	T	31797128	G	T	31797128	5	4	81	1	0	0	0	0	0	0	1	0	1250	1014	35	4	170	4	B3GALTL	13	31797128	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	72000	31797128	83372750	10150	13766											
RXFP2	122042	broad.mit.edu	37	13	32348793	32348793	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:32348793G>T	ENST00000298386.2	+	6	605	c.534G>T	c.(532-534)agG>agT	p.R178S	RXFP2_ENST00000380314.1_Missense_Mutation_p.R178S	NM_130806.3	NP_570718.1	Q8WXD0	RXFP2_HUMAN	relaxin/insulin-like family peptide receptor 2	178						integral to membrane|plasma membrane				cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1)	33		Lung SC(185;0.0262)		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)		ACATATCCAGGAAAGCATTTT	0.318													7	87					8.12818e-05	8.94031e-05	1	1	0	T	32348793	G	T	32348793	3	4	81	1	0	0	0	0	1	0	0	0	13812	1165	41	5	556	5	RXFP2	13	32348793	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	551665	32348793	82821085	10151	13767											
FRY	10129	broad.mit.edu	37	13	32691602	32691602	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:32691602A>C	ENST00000380250.3	+	4	952	c.456A>C	c.(454-456)aaA>aaC	p.K152N		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	152					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		CAAGCAATAAATCAAAAAGGT	0.333													8	66					0	0	1	0	0	C	32691602	A	C	32691602	3	2	81	1	0	0	0	0	1	0	0	0	6098	98	4	4	470	4	FRY	13	32691602	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	342809	32691602	82478276	10152	13768											
FRY	10129	broad.mit.edu	37	13	32698752	32698752	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:32698752C>A	ENST00000380250.3	+	6	1065	c.569C>A	c.(568-570)cCt>cAt	p.P190H		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	190					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		CCACTTCATCCTGTAATAGAC	0.313													7	19					0.0381472	0.0389402	1	1	0	A	32698752	C	A	32698752	3	1	81	1	0	0	0	0	1	0	0	0	6098	681	24	4	591	4	FRY	13	32698752	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	7150	32698752	82471126	10153	13769											
FRY	10129	broad.mit.edu	37	13	32808887	32808887	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:32808887G>T	ENST00000380250.3	+	42	6200	c.5704G>T	c.(5704-5706)Gat>Tat	p.D1902Y		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	1902					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		AGAACATGGAGATGAGATTCA	0.473													13	15					1.5842e-08	1.88841e-08	1	1	0	T	32808887	G	T	32808887	3	4	81	1	0	0	0	0	1	0	0	0	6098	942	33	4	5870	4	FRY	13	32808887	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	110135	32808887	82360991	10154	13770											
FRY	10129	broad.mit.edu	37	13	32826033	32826033	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:32826033T>C	ENST00000380250.3	+	50	7685	c.7189T>C	c.(7189-7191)Ttg>Ctg	p.L2397L		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	2397					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		AAAAGAGAAGTTGGTACATGT	0.403													10	97					0	0	1	0	0	C	32826033	T	C	32826033	2	2	81	1	0	0	0	0	0	0	0	1	6098	1722	60	3		3	FRY	13	32826033	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	17146	32826033	82343845	10155	13771											
BRCA2	675	broad.mit.edu	37	13	32906451	32906451	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:32906451G>A	ENST00000544455.1	+	10	1063	c.836G>A	c.(835-837)tGc>tAc	p.C279Y	BRCA2_ENST00000380152.3_Missense_Mutation_p.C279Y	NM_000059.3	NP_000050	P51587	BRCA2_HUMAN	breast cancer 2, early onset	279					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		GTAAATAGCTGCAAAGACCAC	0.284			"D, Mis, N, F, S"		"breast, ovarian, pancreatic"	"breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			20	28					0	0	1	0	0	A	32906451	G	A	32906451	3	1	81	1	0	0	0	0	1	0	0	0	1501	1319	46	2	870	2	BRCA2	13	32906451	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	80418	32906451	82263427	10156	13772											
BRCA2	675	broad.mit.edu	37	13	32912286	32912286	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:32912286G>A	ENST00000544455.1	+	11	4021	c.3794G>A	c.(3793-3795)tGt>tAt	p.C1265Y	BRCA2_ENST00000380152.3_Missense_Mutation_p.C1265Y	NM_000059.3	NP_000050	P51587	BRCA2_HUMAN	breast cancer 2, early onset	1265					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		TCAAGTAAATGTCATGATTCT	0.279			"D, Mis, N, F, S"		"breast, ovarian, pancreatic"	"breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			11	16					0	0	1	0	0	A	32912286	G	A	32912286	3	1	81	1	0	0	0	0	1	0	0	0	1501	1377	48	2	3832	2	BRCA2	13	32912286	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	5835	32912286	82257592	10157	13773											
BRCA2	675	broad.mit.edu	37	13	32912948	32912948	+	Missense_Mutation	SNP	G	G	A	rs80359450		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:32912948G>A	ENST00000544455.1	+	11	4683	c.4456G>A	c.(4456-4458)Gtt>Att	p.V1486I	BRCA2_ENST00000380152.3_Missense_Mutation_p.V1486I	NM_000059.3	NP_000050	P51587	BRCA2_HUMAN	breast cancer 2, early onset	1486					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		AACAGACATAGTTAAACACAA	0.358			"D, Mis, N, F, S"		"breast, ovarian, pancreatic"	"breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			18	37					0	0	1	0	0	A	32912948	G	A	32912948	3	1	81	1	0	0	0	0	1	0	0	0	1501	1029	36	2	4494	2	BRCA2	13	32912948	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	662	32912948	82256930	10158	13774											
PDS5B	23047	broad.mit.edu	37	13	33262607	33262607	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:33262607G>A	ENST00000315596.10	+	13	1556	c.1370G>A	c.(1369-1371)cGg>cAg	p.R457Q		NM_015032.3	NP_055847.1	Q9NTI5	PDS5B_HUMAN	PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae)	457					cell division|cell proliferation|mitotic sister chromatid cohesion|negative regulation of cell proliferation	chromatin|nucleus	ATP binding|DNA binding|identical protein binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|lung(14)|ovary(5)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	62		Lung SC(185;0.0367)		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)		CTTGTTGAACGGATCTTTGCT	0.313													31	44					0	0	1	0	0	A	33262607	G	A	33262607	3	1	81	1	0	0	0	0	1	0	0	0	11739	1116	39	1	1416	1	PDS5B	13	33262607	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	349659	33262607	81907271	10159	13775											
KL	9365	broad.mit.edu	37	13	33634963	33634963	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:33634963G>A	ENST00000380099.3	+	4	1755	c.1747G>A	c.(1747-1749)Gct>Act	p.A583T	KL_ENST00000426690.2_3'UTR|KL_ENST00000487852.1_3'UTR	NM_004795.3	NP_004786.2	Q9UEF7	KLOT_HUMAN	klotho	583	Glycosyl hydrolase-1 2.				aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		GCCCCAGATCGCTTTACTCCA	0.507													37	38					0	0	1	0	0	A	33634963	G	A	33634963	3	1	81	1	0	0	0	0	1	0	0	0	8374	1087	38	1	1761	1	KL	13	33634963	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	372356	33634963	81534915	10160	13776											
STARD13	90627	broad.mit.edu	37	13	33684069	33684069	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:33684069G>T	ENST00000336934.5	-	12	3104	c.2988C>A	c.(2986-2988)atC>atA	p.I996I	STARD13_ENST00000255486.4_Silent_p.I988I|STARD13_ENST00000399365.3_Silent_p.I878I	NM_001243476.1|NM_178006.3	NP_001230405.1|NP_821074.1	Q9Y3M8	STA13_HUMAN	StAR-related lipid transfer (START) domain containing 13	996	START.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|lipid particle|mitochondrial membrane	GTPase activator activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)		CATACTGGTAGATCTCTGTTT	0.527											OREG0022359	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	70					3.59834e-05	3.99423e-05	1	1	0	T	33684069	G	T	33684069	2	4	81	1	0	0	0	0	0	0	0	1	15312	932	33	4		4	STARD13	13	33684069	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	49106	33684069	81485809	10161	13777											
STARD13	90627	broad.mit.edu	37	13	33703428	33703428	+	Silent	SNP	G	G	A	rs35350154		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:33703428G>A	ENST00000336934.5	-	5	1502	c.1386C>T	c.(1384-1386)gtC>gtT	p.V462V	STARD13_ENST00000255486.4_Silent_p.V454V|STARD13_ENST00000399365.3_Silent_p.V344V	NM_001243476.1|NM_178006.3	NP_001230405.1|NP_821074.1	Q9Y3M8	STA13_HUMAN	StAR-related lipid transfer (START) domain containing 13	462					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|lipid particle|mitochondrial membrane	GTPase activator activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)		GGGAGCCAGGGACATTGTCAT	0.562													20	41					0	0	1	0	0	A	33703428	G	A	33703428	2	1	81	1	0	0	0	0	0	0	0	1	15312	1161	41	2		2	STARD13	13	33703428	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	19359	33703428	81466450	10162	13778											
MAB21L1	4081	broad.mit.edu	37	13	36050146	36050146	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:36050146C>T	ENST00000379919.4	-	1	686	c.130G>A	c.(130-132)Gaa>Aaa	p.E44K	NBEA_ENST00000400445.3_Intron|NBEA_ENST00000310336.4_Intron|NBEA_ENST00000540320.1_Intron|NBEA_ENST00000379939.2_Intron	NM_005584.4	NP_005575.1	Q13394	MB211_HUMAN	mab-21-like 1 (C. elegans)	44					anatomical structure morphogenesis	nucleus				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	20		Breast(139;0.014)|Lung SC(185;0.051)|Prostate(109;0.202)		all cancers(112;9.63e-08)|Epithelial(112;1.37e-06)|BRCA - Breast invasive adenocarcinoma(63;0.000659)|OV - Ovarian serous cystadenocarcinoma(117;0.00372)|GBM - Glioblastoma multiforme(144;0.115)		ACTTCCACTTCCTTCAGTACG	0.502													24	53					0	0	1	0	0	T	36050146	C	T	36050146	3	4	81	1	0	0	0	0	1	0	0	0	9187	864	30	2	953	2	MAB21L1	13	36050146	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2346718	36050146	79119732	10163	13779											
NBEA	26960	broad.mit.edu	37	13	36241642	36241642	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:36241642C>T	ENST00000400445.3	+	56	9067	c.8533C>T	c.(8533-8535)Cga>Tga	p.R2845*	NBEA_ENST00000379922.3_Nonsense_Mutation_p.R423*|NBEA_ENST00000537702.1_Nonsense_Mutation_p.R638*|NBEA_ENST00000310336.4_Nonsense_Mutation_p.R2845*|NBEA_ENST00000540320.1_Nonsense_Mutation_p.R2845*|NBEA_ENST00000379939.2_Nonsense_Mutation_p.R2842*	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	2845						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding	p.R2845*(1)		NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		TGAACGAGGGCGATTCAGTAA	0.428													45	79					0	0	1	0	0	T	36241642	C	T	36241642	4	4	81	1	0	0	0	0	0	1	0	0	10235	760	27	1	8755	1	NBEA	13	36241642	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	191496	36241642	78928236	10164	13780											
DCLK1	9201	broad.mit.edu	37	13	36362372	36362372	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:36362372C>T	ENST00000255448.4	-	17	2320	c.2109G>A	c.(2107-2109)caG>caA	p.Q703Q	DCLK1_ENST00000360631.3_Intron|DCLK1_ENST00000379893.1_Intron	NM_004734.4	NP_004725.1	O15075	DCLK1_HUMAN	doublecortin-like kinase 1	0					cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus	integral to plasma membrane	ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		TTCCTGGTTGCTGGTAGTAGT	0.488													7	76					0	0	1	0	0	T	36362372	C	T	36362372	2	4	81	1	0	0	0	0	0	0	0	1	4314	796	28	2		2	DCLK1	13	36362372	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	120730	36362372	78807506	10165	13781											
SPG20	23111	broad.mit.edu	37	13	36886330	36886330	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:36886330C>T	ENST00000451493.1	-	8	1902	c.1685G>A	c.(1684-1686)tGc>tAc	p.C562Y	SPG20_ENST00000494062.2_Missense_Mutation_p.C562Y|SPG20_ENST00000438666.2_Missense_Mutation_p.C562Y|SPG20_ENST00000355182.4_Missense_Mutation_p.C562Y	NM_001142295.1	NP_001135767.1	Q8N0X7	SPG20_HUMAN	spastic paraplegia 20 (Troyer syndrome)	562					cell death	cytoplasm	ubiquitin protein ligase binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	27		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;2.42e-08)|Epithelial(112;1.58e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00128)|BRCA - Breast invasive adenocarcinoma(63;0.0125)|GBM - Glioblastoma multiforme(144;0.026)		GTTAACGATGCATTTAGCTGC	0.323													14	45					0	0	1	0	0	T	36886330	C	T	36886330	3	4	81	1	0	0	0	0	1	0	0	0	15098	710	25	2	323	2	SPG20	13	36886330	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	523958	36886330	78283548	10166	13782											
SPG20	23111	broad.mit.edu	37	13	36909330	36909330	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:36909330G>A	ENST00000451493.1	-	2	855	c.638C>T	c.(637-639)aCc>aTc	p.T213I	SPG20_ENST00000494062.2_Missense_Mutation_p.T213I|SPG20_ENST00000438666.2_Missense_Mutation_p.T213I|SPG20_ENST00000495510.1_5'UTR|SPG20_ENST00000355182.4_Missense_Mutation_p.T213I	NM_001142295.1	NP_001135767.1	Q8N0X7	SPG20_HUMAN	spastic paraplegia 20 (Troyer syndrome)	213					cell death	cytoplasm	ubiquitin protein ligase binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	27		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;2.42e-08)|Epithelial(112;1.58e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00128)|BRCA - Breast invasive adenocarcinoma(63;0.0125)|GBM - Glioblastoma multiforme(144;0.026)		CAGCCCTAAGGTCTCAAGAGG	0.443													27	38					0	0	1	0	0	A	36909330	G	A	36909330	3	1	81	1	0	0	0	0	1	0	0	0	15098	1261	44	2	1394	2	SPG20	13	36909330	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	23000	36909330	78260548	10167	13783											
SMAD9	4093	broad.mit.edu	37	13	37439691	37439691	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:37439691C>A	ENST00000379826.4	-	5	1328	c.986G>T	c.(985-987)aGg>aTg	p.R329M	SMAD9_ENST00000399275.2_Missense_Mutation_p.R329M|SMAD9_ENST00000350148.5_Missense_Mutation_p.R292M	NM_001127217.2	NP_001120689.1	O15198	SMAD9_HUMAN	SMAD family member 9	329	MH2.				BMP signaling pathway|transforming growth factor beta receptor signaling pathway	cytosol|transcription factor complex	sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)	18		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)		all cancers(112;3.38e-07)|Epithelial(112;1.93e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00804)|BRCA - Breast invasive adenocarcinoma(63;0.0129)|GBM - Glioblastoma multiforme(144;0.026)		TATATGTCTCCTGGTATTTTC	0.413													14	55					2.31682e-05	2.58805e-05	1	1	0	A	37439691	C	A	37439691	3	1	81	1	0	0	0	0	1	0	0	0	14818	681	24	4	429	4	SMAD9	13	37439691	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	530361	37439691	77730187	10168	13784											
SMAD9	4093	broad.mit.edu	37	13	37439705	37439705	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:37439705C>T	ENST00000379826.4	-	5	1314	c.972G>A	c.(970-972)acG>acA	p.T324T	SMAD9_ENST00000399275.2_Silent_p.T324T|SMAD9_ENST00000350148.5_Silent_p.T287T	NM_001127217.2	NP_001120689.1	O15198	SMAD9_HUMAN	SMAD family member 9	324	MH2.				BMP signaling pathway|transforming growth factor beta receptor signaling pathway	cytosol|transcription factor complex	sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)	18		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)		all cancers(112;3.38e-07)|Epithelial(112;1.93e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00804)|BRCA - Breast invasive adenocarcinoma(63;0.0129)|GBM - Glioblastoma multiforme(144;0.026)		TATTTTCTATCGTTGAGTTTC	0.408													20	56					0	0	1	0	0	T	37439705	C	T	37439705	2	4	81	1	0	0	0	0	0	0	0	1	14818	871	31	1		1	SMAD9	13	37439705	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	14	37439705	77730173	10169	13785											
SMAD9	4093	broad.mit.edu	37	13	37446850	37446850	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:37446850G>A	ENST00000379826.4	-	3	957	c.615C>T	c.(613-615)agC>agT	p.S205S	SMAD9_ENST00000399275.2_Silent_p.S205S|SMAD9_ENST00000350148.5_Silent_p.S205S	NM_001127217.2	NP_001120689.1	O15198	SMAD9_HUMAN	SMAD family member 9	205					BMP signaling pathway|transforming growth factor beta receptor signaling pathway	cytosol|transcription factor complex	sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)	18		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)		all cancers(112;3.38e-07)|Epithelial(112;1.93e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00804)|BRCA - Breast invasive adenocarcinoma(63;0.0129)|GBM - Glioblastoma multiforme(144;0.026)		AGTGAGGGTAGCTGGCCGTGC	0.577													20	25					0	0	1	0	0	A	37446850	G	A	37446850	2	1	81	1	0	0	0	0	0	0	0	1	14818	962	34	2		2	SMAD9	13	37446850	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	7145	37446850	77723028	10170	13786											
ALG5	29880	broad.mit.edu	37	13	37559765	37559765	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:37559765G>T	ENST00000239891.3	-	6	626	c.560C>A	c.(559-561)cCt>cAt	p.P187H	ALG5_ENST00000443765.1_Splice_Site_p.P157H|ALG5_ENST00000413537.2_Splice_Site_p.P187H	NM_013338.4	NP_037470.1	Q9Y673	ALG5_HUMAN	ALG5, dolichyl-phosphate beta-glucosyltransferase	187					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate beta-glucosyltransferase activity|oligosaccharyl transferase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	11		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)		all cancers(112;5.79e-07)|Epithelial(112;1.81e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00785)|BRCA - Breast invasive adenocarcinoma(63;0.0127)|GBM - Glioblastoma multiforme(144;0.0472)		TATACTCACAGGCCAAGGCTG	0.378													4	48					0.00024832	0.000269806	1	1	0	T	37559765	G	T	37559765	5	4	81	1	0	0	0	0	0	0	1	0	517	1014	35	4	434	4	ALG5	13	37559765	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	112915	37559765	77610113	10171	13787											
ALG5	29880	broad.mit.edu	37	13	37569720	37569720	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:37569720G>A	ENST00000239891.3	-	2	146	c.80C>T	c.(79-81)gCa>gTa	p.A27V	ALG5_ENST00000443765.1_Missense_Mutation_p.A27V|ALG5_ENST00000413537.2_Missense_Mutation_p.A27V|ALG5_ENST00000496689.1_5'UTR	NM_013338.4	NP_037470.1	Q9Y673	ALG5_HUMAN	ALG5, dolichyl-phosphate beta-glucosyltransferase	27					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate beta-glucosyltransferase activity|oligosaccharyl transferase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	11		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)		all cancers(112;5.79e-07)|Epithelial(112;1.81e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00785)|BRCA - Breast invasive adenocarcinoma(63;0.0127)|GBM - Glioblastoma multiforme(144;0.0472)		AGTTGTAAATGCAACGATGGA	0.343													14	38					0	0	1	0	0	A	37569720	G	A	37569720	3	1	81	1	0	0	0	0	1	0	0	0	517	1319	46	2	930	2	ALG5	13	37569720	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	9955	37569720	77600158	10172	13788											
CSNK1A1L	122011	broad.mit.edu	37	13	37678880	37678880	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:37678880G>A	ENST00000379800.3	-	1	923	c.514C>T	c.(514-516)Cac>Tac	p.H172Y		NM_145203.5	NP_660204.2	Q8N752	KC1AL_HUMAN	casein kinase 1, alpha 1-like	172	Protein kinase.				Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	37		Lung NSC(96;7.97e-05)|Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.109)		all cancers(112;3.58e-07)|Epithelial(112;1.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00695)|BRCA - Breast invasive adenocarcinoma(63;0.0117)|GBM - Glioblastoma multiforme(144;0.0407)		TACGGTATGTGTTGCCTGGTC	0.458													37	50					0	0	1	0	0	A	37678880	G	A	37678880	3	1	81	1	0	0	0	0	1	0	0	0	3976	1377	48	2	503	2	CSNK1A1L	13	37678880	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	109160	37678880	77490998	10173	13789											
POSTN	10631	broad.mit.edu	37	13	38160320	38160320	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:38160320C>T	ENST00000379747.4	-	7	968	c.851G>A	c.(850-852)cGa>cAa	p.R284Q	POSTN_ENST00000541179.1_Missense_Mutation_p.R284Q|POSTN_ENST00000379742.4_Missense_Mutation_p.R284Q|POSTN_ENST00000379743.4_Missense_Mutation_p.R284Q|POSTN_ENST00000541481.1_Missense_Mutation_p.R284Q|POSTN_ENST00000379749.4_Missense_Mutation_p.R284Q	NM_006475.2	NP_006466.2	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor	284	FAS1 2.				cell adhesion|skeletal system development	proteinaceous extracellular matrix	heparin binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		TAGGACACCTCGTGGAAGTTT	0.483													29	33					0	0	1	0	0	T	38160320	C	T	38160320	3	4	81	1	0	0	0	0	1	0	0	0	12307	884	31	1	1727	1	POSTN	13	38160320	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	481440	38160320	77009558	10174	13790											
TRPC4	7223	broad.mit.edu	37	13	38211112	38211112	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:38211112G>T	ENST00000379705.3	-	11	3719	c.2862C>A	c.(2860-2862)gaC>gaA	p.D954E	TRPC4_ENST00000447043.1_Missense_Mutation_p.D813E|TRPC4_ENST00000379679.1_Missense_Mutation_p.D781E|TRPC4_ENST00000426868.2_3'UTR|TRPC4_ENST00000338947.5_Missense_Mutation_p.D781E|TRPC4_ENST00000379673.2_Missense_Mutation_p.D805E|TRPC4_ENST00000355779.2_Missense_Mutation_p.D813E|TRPC4_ENST00000358477.2_Missense_Mutation_p.D870E|TRPC4_ENST00000379681.3_Missense_Mutation_p.D959E			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	954	Binds to ITPR1, ITPR2 and ITPR3.				axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		CTATACTAGAGTCCTCTTCTT	0.443													20	52					5.03518e-11	6.21509e-11	1	1	0	T	38211112	G	T	38211112	3	4	81	1	0	0	0	0	1	0	0	0	16641	1020	36	4	75	4	TRPC4	13	38211112	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	50792	38211112	76958766	10175	13791	67	2									
TRPC4	7223	broad.mit.edu	37	13	38211113	38211113	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:38211113T>C	ENST00000379705.3	-	11	3718	c.2861A>G	c.(2860-2862)gAc>gGc	p.D954G	TRPC4_ENST00000447043.1_Missense_Mutation_p.D813G|TRPC4_ENST00000379679.1_Missense_Mutation_p.D781G|TRPC4_ENST00000426868.2_3'UTR|TRPC4_ENST00000338947.5_Missense_Mutation_p.D781G|TRPC4_ENST00000379673.2_Missense_Mutation_p.D805G|TRPC4_ENST00000355779.2_Missense_Mutation_p.D813G|TRPC4_ENST00000358477.2_Missense_Mutation_p.D870G|TRPC4_ENST00000379681.3_Missense_Mutation_p.D959G			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	954	Binds to ITPR1, ITPR2 and ITPR3.				axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		TATACTAGAGTCCTCTTCTTT	0.438													8	62					0	0	1	0	0	C	38211113	T	C	38211113	3	2	81	1	0	0	0	0	1	0	0	0	16641	1667	58	3	76	3	TRPC4	13	38211113	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	1	38211113	76958765	10176	13792	67	2									
FREM2	341640	broad.mit.edu	37	13	39262270	39262270	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:39262270C>T	ENST00000280481.7	+	1	1005	c.789C>T	c.(787-789)ggC>ggT	p.G263G		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	263					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		AGGAACTAGGCGTGCGCTATC	0.632													29	37					0	0	1	0	0	T	39262270	C	T	39262270	2	4	81	1	0	0	0	0	0	0	0	1	6080	755	27	1		1	FREM2	13	39262270	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1051157	39262270	75907608	10177	13793											
FREM2	341640	broad.mit.edu	37	13	39263238	39263238	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:39263238C>T	ENST00000280481.7	+	1	1973	c.1757C>T	c.(1756-1758)gCa>gTa	p.A586V		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	586					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		TCCCTGAGTGCAACTGACATG	0.542													11	34					0	0	1	0	0	T	39263238	C	T	39263238	3	4	81	1	0	0	0	0	1	0	0	0	6080	710	25	2	1759	2	FREM2	13	39263238	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	968	39263238	75906640	10178	13794											
FREM2	341640	broad.mit.edu	37	13	39422740	39422740	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:39422740G>A	ENST00000280481.7	+	8	6528	c.6312G>A	c.(6310-6312)atG>atA	p.M2104I	FREM2_ENST00000482551.1_3'UTR	NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	2104					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		TGCTTCGCATGCCTATGAACG	0.463													22	29					0	0	1	0	0	A	39422740	G	A	39422740	3	1	81	1	0	0	0	0	1	0	0	0	6080	1319	46	2	6342	2	FREM2	13	39422740	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	159502	39422740	75747138	10179	13795											
FREM2	341640	broad.mit.edu	37	13	39438616	39438616	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:39438616G>T	ENST00000280481.7	+	16	8072	c.7856G>T	c.(7855-7857)aGa>aTa	p.R2619I		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	2619					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		TTGTCCATCAGAGGTTCCACT	0.433													34	65					4.65686e-17	5.99349e-17	1	1	0	T	39438616	G	T	39438616	3	4	81	1	0	0	0	0	1	0	0	0	6080	942	33	4	7918	4	FREM2	13	39438616	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	15876	39438616	75731262	10180	13796											
NHLRC3	387921	broad.mit.edu	37	13	39622004	39622004	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:39622004G>A	ENST00000379600.3	+	7	1307	c.985G>A	c.(985-987)Gca>Aca	p.A329T	NHLRC3_ENST00000470258.1_Missense_Mutation_p.A132T|NHLRC3_ENST00000379599.2_Missense_Mutation_p.A262T	NM_001012754.3	NP_001012772.1	Q5JS37	NHLC3_HUMAN	NHL repeat containing 3	329						extracellular region				breast(1)|kidney(1)|large_intestine(3)|lung(4)|skin(2)	11		Lung NSC(96;6.01e-07)|Breast(139;0.00394)|Prostate(109;0.00676)|Lung SC(185;0.0548)|Hepatocellular(188;0.114)		all cancers(112;2.37e-08)|Epithelial(112;3.14e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00101)|BRCA - Breast invasive adenocarcinoma(63;0.00335)|GBM - Glioblastoma multiforme(144;0.0128)		AGAAATTGGAGCAAAACAAGT	0.393													4	59					0	0	1	0	0	A	39622004	G	A	39622004	3	1	81	1	0	0	0	0	1	0	0	0	10454	971	34	2	1011	2	NHLRC3	13	39622004	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	183388	39622004	75547874	10181	13797											
MRPS31	10240	broad.mit.edu	37	13	41323302	41323302	+	Silent	SNP	T	T	C	rs142931494	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:41323302T>C	ENST00000323563.6	-	6	966	c.930A>G	c.(928-930)ctA>ctG	p.L310L	MRPS31_ENST00000498078.1_5'UTR	NM_005830.3	NP_005821.2	Q92665	RT31_HUMAN	mitochondrial ribosomal protein S31	310						mitochondrion|ribosome	protein domain specific binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	13		Lung NSC(96;3.55e-06)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194)		all cancers(112;1.52e-08)|Epithelial(112;7.63e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000192)|GBM - Glioblastoma multiforme(144;0.00233)|BRCA - Breast invasive adenocarcinoma(63;0.0706)		GGAACTCCCATAGTTTCCCCT	0.378													46	94					0	0	1	0	0	C	41323302	T	C	41323302	2	2	81	1	0	0	0	0	0	0	0	1	9890	1393	49	3		3	MRPS31	13	41323302	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	1701298	41323302	73846576	10182	13798											
ELF1	1997	broad.mit.edu	37	13	41525483	41525483	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:41525483G>A	ENST00000239882.3	-	4	657	c.343C>T	c.(343-345)Ctg>Ttg	p.L115L	ELF1_ENST00000442101.1_Silent_p.L115L|ELF1_ENST00000498824.1_5'UTR	NM_172373.3	NP_758961.1	P32519	ELF1_HUMAN	E74-like factor 1 (ets domain transcription factor)	115					positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37		Lung NSC(96;8.3e-05)|Prostate(109;0.0233)|Breast(139;0.0296)|Lung SC(185;0.0367)		all cancers(112;1.87e-08)|Epithelial(112;8.45e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000202)|GBM - Glioblastoma multiforme(144;0.00266)|BRCA - Breast invasive adenocarcinoma(63;0.072)		TTTTCATCCAGCATAGGGCCA	0.373													3	45					0	0	1	0	0	A	41525483	G	A	41525483	2	1	81	1	0	0	0	0	0	0	0	1	5081	962	34	2		2	ELF1	13	41525483	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	202181	41525483	73644395	10183	13799											
KBTBD6	89890	broad.mit.edu	37	13	41704782	41704782	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:41704782G>A	ENST00000379485.1	-	1	2100	c.1866C>T	c.(1864-1866)tgC>tgT	p.C622C	KBTBD6_ENST00000499385.2_Silent_p.C556C	NM_152903.4	NP_690867.3	Q86V97	KBTB6_HUMAN	kelch repeat and BTB (POZ) domain containing 6	622							protein binding			NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4)	43		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)		CAGGTTCAAGGCAGGAAGGAT	0.433													28	37					0	0	1	0	0	A	41704782	G	A	41704782	2	1	81	1	0	0	0	0	0	0	0	1	8041	1195	42	2		2	KBTBD6	13	41704782	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	179299	41704782	73465096	10184	13800											
KBTBD7	84078	broad.mit.edu	37	13	41766997	41766997	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:41766997A>G	ENST00000379483.3	-	1	1705	c.1397T>C	c.(1396-1398)tTg>tCg	p.L466S		NM_032138.4	NP_115514.2	Q8WVZ9	KBTB7_HUMAN	kelch repeat and BTB (POZ) domain containing 7	466							protein binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(4)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Lung NSC(96;0.000105)|Breast(139;0.00715)|Prostate(109;0.0233)|Lung SC(185;0.0367)		all cancers(112;6.21e-09)|Epithelial(112;6.99e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000196)|GBM - Glioblastoma multiforme(144;0.000857)|BRCA - Breast invasive adenocarcinoma(63;0.0669)		AGGAGCCACCAATGCCCACTG	0.448													3	54					0	0	1	0	0	G	41766997	A	G	41766997	3	3	81	1	0	0	0	0	1	0	0	0	8042	131	5	3	661	3	KBTBD7	13	41766997	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	62215	41766997	73402881	10185	13801											
KBTBD7	84078	broad.mit.edu	37	13	41767128	41767128	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:41767128C>T	ENST00000379483.3	-	1	1574	c.1266G>A	c.(1264-1266)ttG>ttA	p.L422L		NM_032138.4	NP_115514.2	Q8WVZ9	KBTB7_HUMAN	kelch repeat and BTB (POZ) domain containing 7	422							protein binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(4)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Lung NSC(96;0.000105)|Breast(139;0.00715)|Prostate(109;0.0233)|Lung SC(185;0.0367)		all cancers(112;6.21e-09)|Epithelial(112;6.99e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000196)|GBM - Glioblastoma multiforme(144;0.000857)|BRCA - Breast invasive adenocarcinoma(63;0.0669)		CACGACACAGCAAGCGATCTG	0.488													7	58					0	0	1	0	0	T	41767128	C	T	41767128	2	4	81	1	0	0	0	0	0	0	0	1	8042	709	25	2		2	KBTBD7	13	41767128	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	131	41767128	73402750	10186	13802											
MTRF1	9617	broad.mit.edu	37	13	41814544	41814544	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:41814544T>C	ENST00000379480.4	-	6	823	c.723A>G	c.(721-723)cgA>cgG	p.R241R	MTRF1_ENST00000379477.1_Silent_p.R241R|MTRF1_ENST00000430347.2_Silent_p.R254R	NM_004294.2	NP_004285.2	O75570	RF1M_HUMAN	mitochondrial translational release factor 1	241					regulation of translational termination	mitochondrion	translation release factor activity, codon specific			breast(1)|endometrium(4)|large_intestine(3)|lung(6)	14		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)|Ovarian(182;0.125)		OV - Ovarian serous cystadenocarcinoma(117;4.24e-10)|all cancers(112;2.05e-09)|Epithelial(112;2.48e-09)|GBM - Glioblastoma multiforme(144;0.00115)|BRCA - Breast invasive adenocarcinoma(63;0.0721)|KIRC - Kidney renal clear cell carcinoma(186;0.248)		CACCGGAAATTCGGGCGGCTG	0.483													12	26					0	0	1	0	0	C	41814544	T	C	41814544	2	2	81	1	0	0	0	0	0	0	0	1	10007	1770	62	3		3	MTRF1	13	41814544	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	47416	41814544	73355334	10187	13803											
MTRF1	9617	broad.mit.edu	37	13	41834982	41834982	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:41834982C>T	ENST00000379480.4	-	2	162	c.62G>A	c.(61-63)tGt>tAt	p.C21Y	MTRF1_ENST00000379477.1_Missense_Mutation_p.C21Y|MTRF1_ENST00000239852.6_5'UTR|MTRF1_ENST00000430347.2_Missense_Mutation_p.C34Y	NM_004294.2	NP_004285.2	O75570	RF1M_HUMAN	mitochondrial translational release factor 1	21					regulation of translational termination	mitochondrion	translation release factor activity, codon specific			breast(1)|endometrium(4)|large_intestine(3)|lung(6)	14		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)|Ovarian(182;0.125)		OV - Ovarian serous cystadenocarcinoma(117;4.24e-10)|all cancers(112;2.05e-09)|Epithelial(112;2.48e-09)|GBM - Glioblastoma multiforme(144;0.00115)|BRCA - Breast invasive adenocarcinoma(63;0.0721)|KIRC - Kidney renal clear cell carcinoma(186;0.248)		CTGGATGTGACACTGGAGGTA	0.363													19	48					0	0	1	0	0	T	41834982	C	T	41834982	3	4	81	1	0	0	0	0	1	0	0	0	10007	478	17	2	1311	2	MTRF1	13	41834982	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	20438	41834982	73334896	10188	13804											
NAA16	79612	broad.mit.edu	37	13	41897203	41897203	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:41897203C>T	ENST00000379406.3	+	5	738	c.414C>T	c.(412-414)taC>taT	p.Y138Y	NAA16_ENST00000403412.3_Silent_p.Y138Y|NAA16_ENST00000379367.3_Silent_p.Y138Y	NM_024561.4	NP_078837.3	Q6N069	NAA16_HUMAN	N(alpha)-acetyltransferase 16, NatA auxiliary subunit	138					N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent	cytoplasm|transcription factor complex	binding			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|urinary_tract(2)	31						AGACAAGATACCAGCTTCTTC	0.353													36	69					0	0	1	0	0	T	41897203	C	T	41897203	2	4	81	1	0	0	0	0	0	0	0	1	10167	518	18	2		2	NAA16	13	41897203	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	62221	41897203	73272675	10189	13805											
NAA16	79612	broad.mit.edu	37	13	41936259	41936259	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:41936259C>T	ENST00000379406.3	+	13	1827	c.1503C>T	c.(1501-1503)taC>taT	p.Y501Y	NAA16_ENST00000379367.3_Silent_p.Y501Y	NM_024561.4	NP_078837.3	Q6N069	NAA16_HUMAN	N(alpha)-acetyltransferase 16, NatA auxiliary subunit	501					N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent	cytoplasm|transcription factor complex	binding			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|urinary_tract(2)	31						TGGGGAGATACGGGGATGCCT	0.388													14	53					0	0	1	0	0	T	41936259	C	T	41936259	2	4	81	1	0	0	0	0	0	0	0	1	10167	547	19	1		1	NAA16	13	41936259	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	39056	41936259	73233619	10190	13806											
NAA16	79612	broad.mit.edu	37	13	41943238	41943238	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:41943238C>T	ENST00000379406.3	+	15	2090	c.1766C>T	c.(1765-1767)gCc>gTc	p.A589V	NAA16_ENST00000497143.1_3'UTR	NM_024561.4	NP_078837.3	Q6N069	NAA16_HUMAN	N(alpha)-acetyltransferase 16, NatA auxiliary subunit	589					N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent	cytoplasm|transcription factor complex	binding			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|urinary_tract(2)	31						AACTTGTCAGCCAAAGAATTG	0.338													18	51					0	0	1	0	0	T	41943238	C	T	41943238	3	4	81	1	0	0	0	0	1	0	0	0	10167	739	26	2	1857	2	NAA16	13	41943238	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	6979	41943238	73226640	10191	13807											
DGKH	160851	broad.mit.edu	37	13	42763391	42763391	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:42763391C>T	ENST00000261491.5	+	15	1879	c.1858C>T	c.(1858-1860)Cgg>Tgg	p.R620W	DGKH_ENST00000379274.2_Missense_Mutation_p.R484W|DGKH_ENST00000538674.1_Missense_Mutation_p.R375W|DGKH_ENST00000498255.2_3'UTR|DGKH_ENST00000337343.4_Missense_Mutation_p.R620W|DGKH_ENST00000540693.1_Missense_Mutation_p.R620W|DGKH_ENST00000536612.1_Missense_Mutation_p.R484W	NM_152910.4	NP_690874.2	Q86XP1	DGKH_HUMAN	diacylglycerol kinase, eta						activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation|protein oligomerization	endosome|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			breast(2)|endometrium(3)|kidney(5)|large_intestine(11)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43		Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109)		AATCATGTTGCGGGCAAATAG	0.453													9	50					0	0	1	0	0	T	42763391	C	T	42763391	3	4	81	1	0	0	0	0	1	0	0	0	4498	759	27	1	1916	1	DGKH	13	42763391	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	820153	42763391	72406487	10192	13808											
DGKH	160851	broad.mit.edu	37	13	42773749	42773749	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:42773749G>A	ENST00000261491.5	+	19	2354	c.2333G>A	c.(2332-2334)gGa>gAa	p.G778E	DGKH_ENST00000379274.2_Missense_Mutation_p.G642E|DGKH_ENST00000538674.1_Missense_Mutation_p.G533E|DGKH_ENST00000498255.2_3'UTR|DGKH_ENST00000337343.4_Missense_Mutation_p.G778E|DGKH_ENST00000540693.1_Missense_Mutation_p.G778E|DGKH_ENST00000536612.1_Missense_Mutation_p.G642E	NM_152910.4	NP_690874.2	Q86XP1	DGKH_HUMAN	diacylglycerol kinase, eta						activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation|protein oligomerization	endosome|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			breast(2)|endometrium(3)|kidney(5)|large_intestine(11)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43		Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109)		TTTGGGATTGGATTAGATGCA	0.284													7	15					0	0	1	0	0	A	42773749	G	A	42773749	3	1	81	1	0	0	0	0	1	0	0	0	4498	1174	41	2	2407	2	DGKH	13	42773749	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	10358	42773749	72396129	10193	13809											
AKAP11	11215	broad.mit.edu	37	13	42869861	42869861	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:42869861G>T	ENST00000025301.2	+	5	374	c.199G>T	c.(199-201)Gat>Tat	p.D67Y		NM_016248.3	NP_057332.1	Q9UKA4	AKA11_HUMAN	A kinase (PRKA) anchor protein 11	67					intracellular protein kinase cascade	microtubule organizing center	protein kinase A binding|protein phosphatase 1 binding	p.D67Y(1)		breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2)	56		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)		TGAAGAGACAGATGCTGCTCA	0.348													6	77					0.000157383	0.000171784	1	1	0	T	42869861	G	T	42869861	3	4	81	1	0	0	0	0	1	0	0	0	444	942	33	4	209	4	AKAP11	13	42869861	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	96112	42869861	72300017	10194	13810											
EPSTI1	94240	broad.mit.edu	37	13	43538202	43538203	+	Splice_Site	INS	-	-	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:43538202_43538203insT	ENST00000313640.7	-	4	468_469	c.404_405insA	c.(403-405)aag>aaAg	p.K135fs	EPSTI1_ENST00000398762.3_Splice_Site_p.K135fs|EPSTI1_ENST00000313624.7_Splice_Site_p.K135fs|EPSTI1_ENST00000476830.2_5'UTR	NM_001002264.2	NP_001002264.1	Q96J88	ESIP1_HUMAN	epithelial stromal interaction 1 (breast)	135										endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|skin(1)	17		Lung NSC(96;3.6e-06)|Breast(139;0.00869)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		GBM - Glioblastoma multiforme(144;0.000528)|BRCA - Breast invasive adenocarcinoma(63;0.0858)		GAATTCTGACCTTTTGCTTGTA	0.351													8	19	---	---	---	---						T	43538203	-	T	43538202	8	5	81	1	0	1	1	0	0	0	1	0	5226	695	24	0	867	0	EPSTI1	13	43538202	Splice_Site	INS	-	TCGA-DU-6392-01A-11D-1705-08	668341	43538202	71631676	10195	13811											
CCDC122	160857	broad.mit.edu	37	13	44432972	44432972	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:44432972G>A	ENST00000444614.3	-	6	875	c.617C>T	c.(616-618)aCt>aTt	p.T206I	CCDC122_ENST00000281508.3_Missense_Mutation_p.T206I|CCDC122_ENST00000476570.2_5'UTR	NM_144974.3	NP_659411.2	Q5T0U0	CC122_HUMAN	coiled-coil domain containing 122	206										endometrium(1)|large_intestine(2)|lung(5)|stomach(1)	9		Lung NSC(96;7.5e-06)|Breast(139;0.00765)|Hepatocellular(98;0.00826)|Prostate(109;0.0143)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;0.000767)|BRCA - Breast invasive adenocarcinoma(63;0.128)		AAGAAAACAAGTTTTTTCAAT	0.249													5	9					0	0	1	0	0	A	44432972	G	A	44432972	3	1	81	1	0	0	0	0	1	0	0	0	2776	1029	36	2	212	2	CCDC122	13	44432972	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	894770	44432972	70736906	10196	13812											
CCDC122	160857	broad.mit.edu	37	13	44433879	44433880	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:44433879_44433880insT	ENST00000444614.3	-	5	741_742	c.483_484insA	c.(481-486)aaattafs	p.L162fs	CCDC122_ENST00000476570.2_5'UTR|CCDC122_ENST00000281508.3_Frame_Shift_Ins_p.L162fs	NM_144974.3	NP_659411.2	Q5T0U0	CC122_HUMAN	coiled-coil domain containing 122	162										endometrium(1)|large_intestine(2)|lung(5)|stomach(1)	9		Lung NSC(96;7.5e-06)|Breast(139;0.00765)|Hepatocellular(98;0.00826)|Prostate(109;0.0143)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;0.000767)|BRCA - Breast invasive adenocarcinoma(63;0.128)		ATTGTCTTTAATTTTTTAACAA	0.317													37	74	---	---	---	---						T	44433880	-	T	44433879	7	5	81	1	0	1	1	0	0	0	0	0	2776	98	4	0	349	0	CCDC122	13	44433879	Frame_Shift_Ins	INS	-	TCGA-DU-6392-01A-11D-1705-08	907	44433879	70735999	10197	13813											
TSC22D1	8848	broad.mit.edu	37	13	45008933	45008933	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:45008933A>G	ENST00000458659.2	-	3	3541	c.3051T>C	c.(3049-3051)aaT>aaC	p.N1017N	TSC22D1_ENST00000501704.2_Intron|TSC22D1_ENST00000261489.2_Silent_p.N88N	NM_183422.3	NP_904358.2	Q15714	T22D1_HUMAN	TSC22 domain family, member 1	1017	Leucine-zipper.				transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding transcription factor activity			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118)		CCAGCTGGGAATTTTTCTCTA	0.502													10	83					0	0	1	0	0	G	45008933	A	G	45008933	2	3	81	1	0	0	0	0	0	0	0	1	16668	98	4	3		3	TSC22D1	13	45008933	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	575054	45008933	70160945	10198	13814											
NUFIP1	26747	broad.mit.edu	37	13	45533519	45533519	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:45533519A>G	ENST00000379161.4	-	7	1064	c.1018T>C	c.(1018-1020)Tct>Cct	p.S340P		NM_012345.2	NP_036477.2	Q9UHK0	NUFP1_HUMAN	nuclear fragile X mental retardation protein interacting protein 1	340					box C/D snoRNP assembly|positive regulation of transcription from RNA polymerase II promoter|RNA processing	actin cytoskeleton|cytosolic ribosome|nuclear matrix|nucleolus|perichromatin fibrils|pre-snoRNP complex|presynaptic active zone|transcription elongation factor complex	DNA binding|identical protein binding|protein binding, bridging|RNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(4)|skin(3)	18		Lung NSC(96;8.23e-05)|Breast(139;0.00378)|Prostate(109;0.0107)|all_hematologic(4;0.014)|Lung SC(185;0.0262)|Hepatocellular(98;0.0524)|Acute lymphoblastic leukemia(4;0.143)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000306)|BRCA - Breast invasive adenocarcinoma(63;0.125)		AGCTTACCAGAATCACTGTTT	0.393													6	61					0	0	1	0	0	G	45533519	A	G	45533519	3	3	81	1	0	0	0	0	1	0	0	0	10796	246	9	3	485	3	NUFIP1	13	45533519	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	524586	45533519	69636359	10199	13815											
NUFIP1	26747	broad.mit.edu	37	13	45533618	45533618	+	Silent	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:45533618T>G	ENST00000379161.4	-	7	965	c.919A>C	c.(919-921)Aga>Cga	p.R307R		NM_012345.2	NP_036477.2	Q9UHK0	NUFP1_HUMAN	nuclear fragile X mental retardation protein interacting protein 1	307					box C/D snoRNP assembly|positive regulation of transcription from RNA polymerase II promoter|RNA processing	actin cytoskeleton|cytosolic ribosome|nuclear matrix|nucleolus|perichromatin fibrils|pre-snoRNP complex|presynaptic active zone|transcription elongation factor complex	DNA binding|identical protein binding|protein binding, bridging|RNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(4)|skin(3)	18		Lung NSC(96;8.23e-05)|Breast(139;0.00378)|Prostate(109;0.0107)|all_hematologic(4;0.014)|Lung SC(185;0.0262)|Hepatocellular(98;0.0524)|Acute lymphoblastic leukemia(4;0.143)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000306)|BRCA - Breast invasive adenocarcinoma(63;0.125)		GTGACTGCTCTCTGTCTAGAA	0.443													47	104					0	0	1	0	0	G	45533618	T	G	45533618	2	3	81	1	0	0	0	0	0	0	0	1	10796	1559	54	5		5	NUFIP1	13	45533618	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	99	45533618	69636260	10200	13816											
SPERT	220082	broad.mit.edu	37	13	46287719	46287719	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:46287719C>T	ENST00000378966.3	+	2	867	c.451C>T	c.(451-453)Cgg>Tgg	p.R151W	SPERT_ENST00000310521.1_Missense_Mutation_p.R187W			Q8NA61	SPERT_HUMAN	spermatid associated	187						cytoplasmic membrane-bounded vesicle				NS(1)|central_nervous_system(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	15		Breast(56;0.000819)|Lung NSC(96;0.00227)|Prostate(109;0.00703)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;7.26e-05)		CGAGGAGAACCGGATGCTCAG	0.627													12	43					0	0	1	0	0	T	46287719	C	T	46287719	3	4	81	1	0	0	0	0	1	0	0	0	15095	643	23	1	569	1	SPERT	13	46287719	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	754101	46287719	68882159	10201	13817											
ZC3H13	23091	broad.mit.edu	37	13	46549874	46549874	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:46549874C>A	ENST00000242848.4	-	12	2360	c.2012G>T	c.(2011-2013)aGg>aTg	p.R671M	ZC3H13_ENST00000282007.3_Missense_Mutation_p.R671M			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	671	Arg/Glu-rich.						nucleic acid binding|zinc ion binding			cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		TTCATCTCTCCTATCATCCAC	0.502													6	39					8.12818e-05	8.94031e-05	1	1	0	A	46549874	C	A	46549874	3	1	81	1	0	0	0	0	1	0	0	0	17624	681	24	4	2706	4	ZC3H13	13	46549874	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	262155	46549874	68620004	10202	13818											
ZC3H13	23091	broad.mit.edu	37	13	46619132	46619132	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:46619132C>T	ENST00000242848.4	-	3	533	c.185G>A	c.(184-186)gGc>gAc	p.G62D	ZC3H13_ENST00000282007.3_Missense_Mutation_p.G62D			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	62							nucleic acid binding|zinc ion binding			cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		AGGTGAAGGGCCATGTACGAA	0.373													23	29					0	0	1	0	0	T	46619132	C	T	46619132	3	4	81	1	0	0	0	0	1	0	0	0	17624	739	26	2	4569	2	ZC3H13	13	46619132	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	69258	46619132	68550746	10203	13819											
CPB2	1361	broad.mit.edu	37	13	46638873	46638873	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:46638873G>A	ENST00000181383.4	-	8	722	c.706C>T	c.(706-708)Cga>Tga	p.R236*	CPB2-AS1_ENST00000415033.2_RNA|CPB2-AS1_ENST00000606243.1_RNA|CPB2_ENST00000439329.3_Nonsense_Mutation_p.R199*|CPB2-AS1_ENST00000606991.1_RNA|CPB2-AS1_ENST00000606351.1_RNA	NM_001872.3	NP_001863.3	Q96IY4	CBPB2_HUMAN	carboxypeptidase B2 (plasma)	236					blood coagulation|fibrinolysis|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			NS(1)|cervix(1)|large_intestine(3)|liver(1)|lung(9)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Lung NSC(96;4.21e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|all_neural(104;0.235)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.44e-05)		CTCCACATTCGATTCTACATA	0.423													15	21					0	0	1	0	0	A	46638873	G	A	46638873	4	1	81	1	0	0	0	0	0	1	0	0	3820	1066	37	1	581	1	CPB2	13	46638873	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	19741	46638873	68531005	10204	13820											
LCP1	3936	broad.mit.edu	37	13	46730704	46730704	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:46730704C>A	ENST00000398576.2	-	8	748	c.360G>T	c.(358-360)gaG>gaT	p.E120D	LCP1_ENST00000323076.2_Splice_Site_p.E120D			P13796	PLSL_HUMAN	lymphocyte cytosolic protein 1 (L-plastin)	120	Actin-binding 1.|CH 1.				regulation of intracellular protein transport|T cell activation involved in immune response	cell junction|cytosol|ruffle membrane	calcium ion binding			breast(2)|kidney(1)|large_intestine(6)|lung(18)|ovary(4)|prostate(2)|skin(1)	34		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.39e-05)		ACTTTTCTTCCTCTGCAAGTA	0.373			T	BCL6	NHL								11	136					5.50884e-06	6.24461e-06	1	1	0	A	46730704	C	A	46730704	5	1	81	1	0	0	0	0	0	0	1	0	8730	695	24	4	1571	4	LCP1	13	46730704	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	91831	46730704	68439174	10205	13821											
LRCH1	23143	broad.mit.edu	37	13	47262041	47262041	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:47262041C>T	ENST00000311191.6	+	6	1106	c.877C>T	c.(877-879)Cag>Tag	p.Q293*	LRCH1_ENST00000389798.3_Nonsense_Mutation_p.Q293*|LRCH1_ENST00000389797.3_Nonsense_Mutation_p.Q293*	NM_001164213.1	NP_001157685	Q9Y2L9	LRCH1_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 1	293										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(13;5.61e-07)|Lung NSC(96;0.000117)|Breast(56;0.000141)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000123)		ACAAGCATGCCAGATTAAGAC	0.408													12	40					0	0	1	0	0	T	47262041	C	T	47262041	4	4	81	1	0	0	0	0	0	1	0	0	8977	595	21	2	899	2	LRCH1	13	47262041	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	531337	47262041	67907837	10206	13822											
NUDT15	55270	broad.mit.edu	37	13	48615099	48615099	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:48615099G>T	ENST00000258662.2	+	2	382	c.202G>T	c.(202-204)Gca>Tca	p.A68S		NM_018283.1	NP_060753.1	Q9NV35	NUD15_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 15	68	Nudix hydrolase.						hydrolase activity|metal ion binding			endometrium(1)|kidney(3)|large_intestine(2)|lung(1)	7		all_cancers(8;3.75e-25)|all_epithelial(8;1.78e-13)|all_lung(13;2.85e-06)|Breast(56;0.000141)|all_hematologic(8;0.000219)|Lung NSC(96;0.000226)|Prostate(109;0.00132)|Acute lymphoblastic leukemia(8;0.0167)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(144;4.83e-07)		CTGGGAAGAAGCAGCTCTTCA	0.333													9	33					4.36969e-10	5.3233e-10	1	1	0	T	48615099	G	T	48615099	3	4	81	1	0	0	0	0	1	0	0	0	10779	971	34	4	208	4	NUDT15	13	48615099	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1353058	48615099	66554779	10207	13823											
MED4	29079	broad.mit.edu	37	13	48651342	48651342	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:48651342T>G	ENST00000258648.2	-	7	771	c.746A>C	c.(745-747)aAa>aCa	p.K249T	MED4_ENST00000495013.1_5'UTR|MED4_ENST00000378586.1_Missense_Mutation_p.K203T|MED4-AS1_ENST00000422483.1_RNA	NM_014166.3	NP_054885.1	Q9NPJ6	MED4_HUMAN	mediator complex subunit 4	249					androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)	8		all_cancers(8;2.93e-25)|all_epithelial(8;4.38e-13)|all_lung(13;7.37e-06)|all_hematologic(8;8.61e-05)|Breast(56;0.000141)|Lung NSC(96;0.000518)|Prostate(109;0.00132)|Acute lymphoblastic leukemia(8;0.00559)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(144;5.18e-07)		TTCATTTTCTTTATTATGCCC	0.368													10	60					0	0	1	0	0	G	48651342	T	G	48651342	3	3	81	1	0	0	0	0	1	0	0	0	9500	1841	64	5	70	5	MED4	13	48651342	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	36243	48651342	66518536	10208	13824											
MED4	29079	broad.mit.edu	37	13	48653989	48653989	+	Silent	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:48653989T>G	ENST00000258648.2	-	6	656	c.631A>C	c.(631-633)Aga>Cga	p.R211R	MED4_ENST00000495013.1_5'UTR|MED4_ENST00000378586.1_Silent_p.R165R|MED4-AS1_ENST00000422483.1_RNA	NM_014166.3	NP_054885.1	Q9NPJ6	MED4_HUMAN	mediator complex subunit 4	211					androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)	8		all_cancers(8;2.93e-25)|all_epithelial(8;4.38e-13)|all_lung(13;7.37e-06)|all_hematologic(8;8.61e-05)|Breast(56;0.000141)|Lung NSC(96;0.000518)|Prostate(109;0.00132)|Acute lymphoblastic leukemia(8;0.00559)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(144;5.18e-07)		CCTGGCAATCTTCCTGCTGCA	0.438													4	67					0	0	1	0	0	G	48653989	T	G	48653989	2	3	81	1	0	0	0	0	0	0	0	1	9500	1617	56	5		5	MED4	13	48653989	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	2647	48653989	66515889	10209	13825											
MED4	29079	broad.mit.edu	37	13	48664488	48664488	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:48664488C>A	ENST00000258648.2	-	2	217	c.192G>T	c.(190-192)caG>caT	p.Q64H	MED4_ENST00000378586.1_Splice_Site_p.Q18H	NM_014166.3	NP_054885.1	Q9NPJ6	MED4_HUMAN	mediator complex subunit 4	64					androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)	8		all_cancers(8;2.93e-25)|all_epithelial(8;4.38e-13)|all_lung(13;7.37e-06)|all_hematologic(8;8.61e-05)|Breast(56;0.000141)|Lung NSC(96;0.000518)|Prostate(109;0.00132)|Acute lymphoblastic leukemia(8;0.00559)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(144;5.18e-07)		AGCCACTTACCTGGTTTTCCT	0.294													11	181					0.000673444	0.000721718	1	1	0	A	48664488	C	A	48664488	5	1	81	1	0	0	0	0	0	0	1	0	9500	695	24	4	644	4	MED4	13	48664488	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	10499	48664488	66505390	10210	13826											
LPAR6	10161	broad.mit.edu	37	13	48986512	48986512	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:48986512C>A	ENST00000378434.4	-	7	1672	c.48G>T	c.(46-48)aaG>aaT	p.K16N	LPAR6_ENST00000345941.2_Missense_Mutation_p.K16N|RB1_ENST00000267163.4_Intron	NM_005767.5	NP_005758.2	P43657	LPAR6_HUMAN	lysophosphatidic acid receptor 6	16						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	p.0?(15)|p.?(4)		NS(1)|endometrium(1)|large_intestine(4)|lung(1)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	14						ACAAAGTGTACTTAAAGGAGT	0.423													7	53					8.12818e-05	8.94031e-05	1	1	0	A	48986512	C	A	48986512	3	1	81	1	0	0	0	0	1	0	0	0	8954	564	20	4	990	4	LPAR6	13	48986512	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	322024	48986512	66183366	10211	13827											
RB1	5925	broad.mit.edu	37	13	49039423	49039423	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:49039423A>G	ENST00000267163.4	+	23	2546	c.2408A>G	c.(2407-2409)aAc>aGc	p.N803S		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	803	Domain C; mediates interaction with E4F1.|Interaction with LIMD1.		N -> K (in RB).		androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.0?(15)|p.?(11)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CCTGGAGGGAACATCTATATT	0.423		6	"D, Mis, N, F, S"		"retinoblastoma, sarcoma, breast, small cell lung"	"retinoblastoma, sarcoma, breast, small cell lung"			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			10	96					0	0	1	0	0	G	49039423	A	G	49039423	3	3	81	1	0	0	0	0	1	0	0	0	13150	43	2	3	2498	3	RB1	13	49039423	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	52911	49039423	66130455	10212	13828											
RCBTB2	1102	broad.mit.edu	37	13	49070385	49070385	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:49070385C>T	ENST00000344532.3	-	14	1880	c.1457G>A	c.(1456-1458)gGc>gAc	p.G486D	RCBTB2_ENST00000544492.1_Missense_Mutation_p.G212D|RCBTB2_ENST00000430805.2_Missense_Mutation_p.G491D	NM_001268.2	NP_001259.1	O95199	RCBT2_HUMAN	regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 2	486							Ran guanyl-nucleotide exchange factor activity			breast(5)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(3)	31		all_cancers(8;4.86e-71)|all_epithelial(8;2.11e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;2.3e-10)|Lung NSC(96;1.07e-07)|Breast(56;1.53e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.00826)|Myeloproliferative disorder(33;0.0179)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(99;1.8e-09)|LUSC - Lung squamous cell carcinoma(3;0.116)		CTCGCAGATGCCTTGCTTGAT	0.493													25	48					0	0	1	0	0	T	49070385	C	T	49070385	3	4	81	1	0	0	0	0	1	0	0	0	13224	739	26	2	206	2	RCBTB2	13	49070385	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	30962	49070385	66099493	10213	13829											
RCBTB2	1102	broad.mit.edu	37	13	49075921	49075921	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:49075921C>T	ENST00000344532.3	-	12	1624	c.1201G>A	c.(1201-1203)Gat>Aat	p.D401N	RCBTB2_ENST00000544492.1_Missense_Mutation_p.D127N|RCBTB2_ENST00000430805.2_Missense_Mutation_p.D406N	NM_001268.2	NP_001259.1	O95199	RCBT2_HUMAN	regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 2	401	BTB 1.						Ran guanyl-nucleotide exchange factor activity			breast(5)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(3)	31		all_cancers(8;4.86e-71)|all_epithelial(8;2.11e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;2.3e-10)|Lung NSC(96;1.07e-07)|Breast(56;1.53e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.00826)|Myeloproliferative disorder(33;0.0179)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(99;1.8e-09)|LUSC - Lung squamous cell carcinoma(3;0.116)		TACTTTCCATCAACTAGAAAC	0.383													15	26					0	0	1	0	0	T	49075921	C	T	49075921	3	4	81	1	0	0	0	0	1	0	0	0	13224	826	29	2	470	2	RCBTB2	13	49075921	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	5536	49075921	66093957	10214	13830											
CYSLTR2	57105	broad.mit.edu	37	13	49281518	49281518	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:49281518G>T	ENST00000282018.3	+	1	568	c.565G>T	c.(565-567)Gag>Tag	p.E189*		NM_020377.2	NP_065110.1	Q9NS75	CLTR2_HUMAN	cysteinyl leukotriene receptor 2	189					immune response	integral to membrane|plasma membrane				endometrium(2)|large_intestine(4)|lung(12)|skin(2)	20		all_cancers(8;1.66e-53)|all_epithelial(8;1.96e-19)|all_lung(13;9.94e-09)|all_hematologic(8;7.13e-07)|Lung NSC(96;1.72e-06)|Breast(56;1.53e-05)|Acute lymphoblastic leukemia(8;6.86e-05)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0416)|Lung SC(185;0.0787)		GBM - Glioblastoma multiforme(99;1.19e-09)	Nedocromil(DB00716)	ATCATGCTTAGAGCTGAATCT	0.468													9	107					1.12685e-05	1.27052e-05	1	1	0	T	49281518	G	T	49281518	4	4	81	1	0	0	0	0	0	1	0	0	4225	943	33	4	567	4	CYSLTR2	13	49281518	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	205597	49281518	65888360	10215	13831											
FNDC3A	22862	broad.mit.edu	37	13	49741399	49741399	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:49741399A>G	ENST00000492622.2	+	9	1302	c.997A>G	c.(997-999)Act>Gct	p.T333A	FNDC3A_ENST00000541916.1_Missense_Mutation_p.T333A|FNDC3A_ENST00000398316.3_Missense_Mutation_p.T277A	NM_001079673.1	NP_001073141.1	Q9Y2H6	FND3A_HUMAN	fibronectin type III domain containing 3A	333	Fibronectin type-III 1.					Golgi membrane|integral to membrane				endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1)	41		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)		AACAAATATCACTTTAAATGA	0.313													6	45					0	0	1	0	0	G	49741399	A	G	49741399	3	3	81	1	0	0	0	0	1	0	0	0	6002	159	6	3	1038	3	FNDC3A	13	49741399	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	459881	49741399	65428479	10216	13832											
FNDC3A	22862	broad.mit.edu	37	13	49749565	49749565	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:49749565C>A	ENST00000492622.2	+	13	1723	c.1418C>A	c.(1417-1419)cCt>cAt	p.P473H	FNDC3A_ENST00000541916.1_Missense_Mutation_p.P473H|FNDC3A_ENST00000398316.3_Missense_Mutation_p.P417H	NM_001079673.1	NP_001073141.1	Q9Y2H6	FND3A_HUMAN	fibronectin type III domain containing 3A	473	Fibronectin type-III 3.					Golgi membrane|integral to membrane				endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1)	41		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)		CCAGCAAGTCCTGTATTAACC	0.388													5	48					1.024e-07	1.20612e-07	1	1	0	A	49749565	C	A	49749565	3	1	81	1	0	0	0	0	1	0	0	0	6002	681	24	4	1475	4	FNDC3A	13	49749565	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	8166	49749565	65420313	10217	13833											
FNDC3A	22862	broad.mit.edu	37	13	49765489	49765489	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:49765489G>A	ENST00000492622.2	+	19	2500	c.2195G>A	c.(2194-2196)aGc>aAc	p.S732N	FNDC3A_ENST00000541916.1_Missense_Mutation_p.S732N|FNDC3A_ENST00000398316.3_Missense_Mutation_p.S676N	NM_001079673.1	NP_001073141.1	Q9Y2H6	FND3A_HUMAN	fibronectin type III domain containing 3A	732	Fibronectin type-III 5.					Golgi membrane|integral to membrane				endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1)	41		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)		AAGACATACAGCTTCAGACTA	0.378													39	39					0	0	1	0	0	A	49765489	G	A	49765489	3	1	81	1	0	0	0	0	1	0	0	0	6002	971	34	2	2276	2	FNDC3A	13	49765489	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	15924	49765489	65404389	10218	13834											
MLNR	2862	broad.mit.edu	37	13	49794762	49794762	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:49794762C>T	ENST00000398307.1	+	1	289	c.289C>T	c.(289-291)Cgc>Tgc	p.R97C	MLNR_ENST00000218721.1_Missense_Mutation_p.R97C			O43193	MTLR_HUMAN	motilin receptor	97					digestion	integral to plasma membrane	growth hormone-releasing hormone receptor activity			endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)	14		all_lung(13;8.31e-06)|Lung NSC(96;0.000251)|Breast(56;0.0008)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;6.1e-09)		CGACCTGTACCGCCTCTGGCG	0.687													3	7					0	0	1	0	0	T	49794762	C	T	49794762	3	4	81	1	0	0	0	0	1	0	0	0	9680	652	23	1	291	1	MLNR	13	49794762	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	29273	49794762	65375116	10219	13835											
SETDB2	83852	broad.mit.edu	37	13	50054363	50054363	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:50054363G>A	ENST00000354234.4	+	7	1784	c.878G>A	c.(877-879)tGt>tAt	p.C293Y	SETDB2_ENST00000317257.8_Missense_Mutation_p.C305Y|SETDB2_ENST00000258672.5_Missense_Mutation_p.C293Y	NM_001160308.1	NP_001153780.1	Q96T68	SETB2_HUMAN	SET domain, bifurcated 2	305	Pre-SET.				cell division|chromosome segregation|heart looping|left/right axis specification|mitosis|negative regulation of transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone methyltransferase activity (H3-K9 specific)|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	15		Lung NSC(96;0.000408)|Breast(56;0.00131)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;3.1e-09)		AGAACAAAATGTGCATGTCTT	0.358													42	86					0	0	1	0	0	A	50054363	G	A	50054363	3	1	81	1	0	0	0	0	1	0	0	0	14193	1377	48	2	940	2	SETDB2	13	50054363	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	259601	50054363	65115515	10220	13836											
PHF11	51131	broad.mit.edu	37	13	50087244	50087244	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:50087244C>A	ENST00000357596.3	+	4	425	c.149C>A	c.(148-150)cCt>cAt	p.P50H	PHF11_ENST00000378319.3_Missense_Mutation_p.P89H|PHF11_ENST00000488958.1_Missense_Mutation_p.P50H	NM_001040444.1	NP_001035534.1	Q9UIL8	PHF11_HUMAN	PHD finger protein 11	89					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			large_intestine(3)|lung(1)	4		Lung NSC(96;2.1e-05)|Breast(56;0.00017)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.38e-09)		CCACTTAATCCTGATAGAAGT	0.363													4	43					0.00909568	0.00944708	1	1	0	A	50087244	C	A	50087244	3	1	81	1	0	0	0	0	1	0	0	0	11870	681	24	4	276	4	PHF11	13	50087244	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	32881	50087244	65082634	10221	13837											
TRIM13	10206	broad.mit.edu	37	13	50586242	50586242	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:50586242A>G	ENST00000378182.3	+	2	904	c.166A>G	c.(166-168)Aca>Gca	p.T56A	TRIM13_ENST00000478111.1_Intron|TRIM13_ENST00000298772.5_Missense_Mutation_p.T59A|TRIM13_ENST00000420995.2_Missense_Mutation_p.T56A|TRIM13_ENST00000356017.4_Missense_Mutation_p.T59A|TRIM13_ENST00000457662.2_Missense_Mutation_p.T56A	NM_001007278.1|NM_005798.3|NM_052811.2|NM_213590.1	NP_001007279.1|NP_005789.2|NP_434698.1|NP_998755.1	O60858	TRI13_HUMAN	tripartite motif containing 13	56					anatomical structure morphogenesis|ER-associated protein catabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination	cytoplasm|endoplasmic reticulum membrane|integral to membrane	protein binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			large_intestine(5)|lung(2)|ovary(2)|upper_aerodigestive_tract(1)	10		Acute lymphoblastic leukemia(7;3.41e-06)|Lung NSC(96;3.08e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;1.53e-10)|COAD - Colon adenocarcinoma(199;0.205)		CAAGTGTCCTACATGCCGTAA	0.433													7	47					0	0	1	0	0	G	50586242	A	G	50586242	3	3	81	1	0	0	0	0	1	0	0	0	16549	391	14	3	181	3	TRIM13	13	50586242	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	498998	50586242	64583636	10222	13838											
TRIM13	10206	broad.mit.edu	37	13	50586765	50586765	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:50586765G>A	ENST00000378182.3	+	2	1427	c.689G>A	c.(688-690)cGg>cAg	p.R230Q	TRIM13_ENST00000478111.1_Intron|TRIM13_ENST00000298772.5_Missense_Mutation_p.R233Q|TRIM13_ENST00000420995.2_Missense_Mutation_p.R230Q|TRIM13_ENST00000356017.4_Missense_Mutation_p.R233Q|TRIM13_ENST00000457662.2_Missense_Mutation_p.R230Q	NM_001007278.1|NM_005798.3|NM_052811.2|NM_213590.1	NP_001007279.1|NP_005789.2|NP_434698.1|NP_998755.1	O60858	TRI13_HUMAN	tripartite motif containing 13	230					anatomical structure morphogenesis|ER-associated protein catabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination	cytoplasm|endoplasmic reticulum membrane|integral to membrane	protein binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			large_intestine(5)|lung(2)|ovary(2)|upper_aerodigestive_tract(1)	10		Acute lymphoblastic leukemia(7;3.41e-06)|Lung NSC(96;3.08e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;1.53e-10)|COAD - Colon adenocarcinoma(199;0.205)		CAGGAGCAACGGATGGCCTTT	0.403													21	50					0	0	1	0	0	A	50586765	G	A	50586765	3	1	81	1	0	0	0	0	1	0	0	0	16549	1116	39	1	704	1	TRIM13	13	50586765	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	523	50586765	64583113	10223	13839											
RNASEH2B	79621	broad.mit.edu	37	13	51504821	51504821	+	Missense_Mutation	SNP	G	G	T	rs76158094		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:51504821G>T	ENST00000336617.3	+	4	646	c.247G>T	c.(247-249)Ggt>Tgt	p.G83C	RNASEH2B_ENST00000495244.2_3'UTR|RNASEH2B_ENST00000422660.1_Missense_Mutation_p.G83C	NM_024570.3	NP_078846.2	Q5TBB1	RNH2B_HUMAN	ribonuclease H2, subunit B	83					RNA catabolic process	nucleus|ribonuclease H2 complex				endometrium(2)|liver(1)|lung(1)|upper_aerodigestive_tract(1)	5		Acute lymphoblastic leukemia(7;1.03e-07)|Breast(56;0.00122)|Lung NSC(96;0.00143)|Prostate(109;0.0047)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;9e-08)		ATCTGCAGGAGGTCTTCTCCA	0.418													20	121					7.41877e-09	8.87549e-09	1	1	0	T	51504821	G	T	51504821	3	4	81	1	0	0	0	0	1	0	0	0	13465	1000	35	4	261	4	RNASEH2B	13	51504821	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	918056	51504821	63665057	10224	13840											
SERPINE3	647174	broad.mit.edu	37	13	51915233	51915233	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:51915233G>A	ENST00000524365.1	+	4	631	c.6G>A	c.(4-6)ccG>ccA	p.P2P	SERPINE3_ENST00000521255.1_Silent_p.P2P|SERPINE3_ENST00000400389.4_Silent_p.P2P			A8MV23	SERP3_HUMAN	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 3	2					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			ovary(2)	2						CCTCCATGCCGCCTTTCCTGA	0.552													25	20					0	0	1	0	0	A	51915233	G	A	51915233	2	1	81	1	0	0	0	0	0	0	0	1	14167	1074	38	1		1	SERPINE3	13	51915233	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	410412	51915233	63254645	10225	13841											
INTS6	26512	broad.mit.edu	37	13	52025168	52025168	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:52025168T>C	ENST00000311234.4	-	3	804	c.332A>G	c.(331-333)tAt>tGt	p.Y111C	INTS6_ENST00000425000.1_5'UTR|INTS6_ENST00000491723.1_5'UTR|INTS6_ENST00000420668.2_Missense_Mutation_p.Y111C|INTS6_ENST00000398119.2_Missense_Mutation_p.Y98C|INTS6_ENST00000463928.1_Missense_Mutation_p.Y111C|INTS6_ENST00000442263.3_Missense_Mutation_p.Y111C	NM_012141.2	NP_036273.1	Q9UL03	INT6_HUMAN	integrator complex subunit 6	111	VWFA.				snRNA processing	actin cytoskeleton|integrator complex	protein binding|transmembrane receptor activity			NS(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Breast(56;0.000286)|Lung NSC(96;0.00145)|Prostate(109;0.00403)|Hepatocellular(98;0.065)|Myeloproliferative disorder(33;0.163)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;7.7e-08)		TACCTGCCCATAGTTGTCTAT	0.353													8	90					0	0	1	0	0	C	52025168	T	C	52025168	3	2	81	1	0	0	0	0	1	0	0	0	7826	1406	49	3	2404	3	INTS6	13	52025168	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	109935	52025168	63144710	10226	13842											
WDFY2	115825	broad.mit.edu	37	13	52293442	52293442	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:52293442G>A	ENST00000298125.5	+	5	623	c.443G>A	c.(442-444)cGc>cAc	p.R148H		NM_052950.3	NP_443182.1	Q96P53	WDFY2_HUMAN	WD repeat and FYVE domain containing 2	148							metal ion binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	16		Breast(56;0.000208)|Lung NSC(96;0.000517)|Prostate(109;0.0041)|Hepatocellular(98;0.0652)|Myeloproliferative disorder(33;0.164)|all_neural(104;0.191)		GBM - Glioblastoma multiforme(99;9e-08)		AGTGGGCAGCGCCTGGGAGGT	0.527													19	44					0	0	1	0	0	A	52293442	G	A	52293442	3	1	81	1	0	0	0	0	1	0	0	0	17329	1087	38	1	461	1	WDFY2	13	52293442	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	268274	52293442	62876436	10227	13843											
ATP7B	540	broad.mit.edu	37	13	52544631	52544631	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:52544631C>T	ENST00000242839.4	-	3	1696	c.1540G>A	c.(1540-1542)Gct>Act	p.A514T	ATP7B_ENST00000448424.2_Missense_Mutation_p.A514T|ATP7B_ENST00000542656.1_Missense_Mutation_p.A482T|ATP7B_ENST00000400370.3_Intron|ATP7B_ENST00000418097.2_Missense_Mutation_p.A514T|ATP7B_ENST00000400366.3_Missense_Mutation_p.A403T|ATP7B_ENST00000344297.5_Missense_Mutation_p.A514T|ATP7B_ENST00000482841.1_5'UTR	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	514	HMA 5.				ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)		CTCTTACCAGCTTCTTTCTGC	0.463									Wilson disease				11	116					0	0	1	0	0	T	52544631	C	T	52544631	3	4	81	1	0	0	0	0	1	0	0	0	1189	797	28	2	2933	2	ATP7B	13	52544631	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	251189	52544631	62625247	10228	13844											
ATP7B	540	broad.mit.edu	37	13	52585455	52585455	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:52585455G>A	ENST00000242839.4	-	1	175	c.19C>T	c.(19-21)Cag>Tag	p.Q7*	ATP7B_ENST00000448424.2_Nonsense_Mutation_p.Q7*|ATP7B_ENST00000400370.3_Nonsense_Mutation_p.Q7*|ATP7B_ENST00000418097.2_Nonsense_Mutation_p.Q7*|ATP7B_ENST00000400366.3_Nonsense_Mutation_p.Q7*|ATP7B_ENST00000344297.5_Nonsense_Mutation_p.Q7*	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	7					ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)		GCTGTGATCTGTCTCTCCTGC	0.597									Wilson disease				5	55					0	0	1	0	0	A	52585455	G	A	52585455	4	1	81	1	0	0	0	0	0	1	0	0	1189	1386	48	2	4462	2	ATP7B	13	52585455	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	40824	52585455	62584423	10229	13845											
ALG11	440138	broad.mit.edu	37	13	52602699	52602699	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:52602699A>G	ENST00000521508.1	+	4	1457	c.1452A>G	c.(1450-1452)ctA>ctG	p.L484L	UTP14C_ENST00000521776.2_5'UTR|ALG11_ENST00000519151.1_3'UTR|ALG11_ENST00000523764.1_3'UTR	NM_001004127.2	NP_001004127.2			ALG11, alpha-1,2-mannosyltransferase											endometrium(1)|large_intestine(6)|lung(4)|ovary(2)	13		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.44e-08)		TGACATTCCTATCATCTGTGG	0.308													4	45					0	0	1	0	0	G	52602699	A	G	52602699	2	3	81	1	0	0	0	0	0	0	0	1	510	436	16	3		3	ALG11	13	52602699	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	17244	52602699	62567179	10230	13846											
UTP14C	9724	broad.mit.edu	37	13	52603190	52603190	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:52603190C>A	ENST00000521776.2	+	2	983	c.250C>A	c.(250-252)Ctg>Atg	p.L84M	ALG11_ENST00000521508.1_3'UTR|ALG11_ENST00000523764.1_3'UTR	NM_021645.5	NP_067677.4	Q5TAP6	UT14C_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein, homolog C (yeast)	84					cell differentiation|meiosis|multicellular organismal development|rRNA processing|spermatogenesis	nucleolus|small-subunit processome				breast(4)|cervix(1)|endometrium(1)|large_intestine(10)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	32		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.3e-08)		AGGAGAAAAGCTGGGCCTTGC	0.448													7	121					1.26484e-09	1.5311e-09	1	1	0	A	52603190	C	A	52603190	3	1	81	1	0	0	0	0	1	0	0	0	17156	796	28	4	252	4	UTP14C	13	52603190	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	491	52603190	62566688	10231	13847											
NEK3	4752	broad.mit.edu	37	13	52726773	52726773	+	Missense_Mutation	SNP	G	G	A	rs138876819	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:52726773G>A	ENST00000452082.2	-	4	1657	c.427C>T	c.(427-429)Cgt>Tgt	p.R143C	NEK3_ENST00000339406.3_Missense_Mutation_p.R122C|NEK3_ENST00000378101.2_Missense_Mutation_p.R122C|NEK3_ENST00000400357.2_Missense_Mutation_p.R122C			P51956	NEK3_HUMAN	NIMA-related kinase 3	122	Interaction with VAV2.|Protein kinase.				cell division|mitosis	nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|stomach(2)	18		Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.034)|Hepatocellular(98;0.065)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.81e-08)		TGTAGCACACGTTTCTTGTGA	0.353													17	44					0	0	1	0	0	A	52726773	G	A	52726773	3	1	81	1	0	0	0	0	1	0	0	0	10372	1145	40	1	1204	1	NEK3	13	52726773	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	123583	52726773	62443105	10232	13848											
VPS36	51028	broad.mit.edu	37	13	53008987	53008987	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:53008987G>A	ENST00000378060.4	-	5	409	c.382C>T	c.(382-384)Caa>Taa	p.Q128*	VPS36_ENST00000480923.1_5'UTR	NM_001282168.1|NM_001282169.1|NM_016075.2	NP_001269097.1|NP_001269098.1|NP_057159.2	Q86VN1	VPS36_HUMAN	vacuolar protein sorting 36 homolog (S. cerevisiae)	128	GLUE C-terminal.				cellular membrane organization|endosome transport|protein transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|late endosome|membrane|nucleus	lipid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	17		Breast(56;0.000207)|Lung NSC(96;0.00212)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.14e-08)		CATCTTCTTTGTGTCATTTCC	0.333													84	78					0	0	1	0	0	A	53008987	G	A	53008987	4	1	81	1	0	0	0	0	0	1	0	0	17264	1386	48	2	818	2	VPS36	13	53008987	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	282214	53008987	62160891	10233	13849											
VPS36	51028	broad.mit.edu	37	13	53013245	53013245	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:53013245C>T	ENST00000378060.4	-	3	251	c.224G>A	c.(223-225)gGa>gAa	p.G75E	VPS36_ENST00000480923.1_5'UTR	NM_001282168.1|NM_001282169.1|NM_016075.2	NP_001269097.1|NP_001269098.1|NP_057159.2	Q86VN1	VPS36_HUMAN	vacuolar protein sorting 36 homolog (S. cerevisiae)	75	GLUE N-terminal.				cellular membrane organization|endosome transport|protein transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|late endosome|membrane|nucleus	lipid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	17		Breast(56;0.000207)|Lung NSC(96;0.00212)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.14e-08)		CTTCCCAATTCCAGCCGCCTG	0.403													10	23					0	0	1	0	0	T	53013245	C	T	53013245	3	4	81	1	0	0	0	0	1	0	0	0	17264	855	30	2	984	2	VPS36	13	53013245	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	4258	53013245	62156633	10234	13850											
HNRNPA1L2	144983	broad.mit.edu	37	13	53216587	53216587	+	Translation_Start_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:53216587G>A	ENST00000342657.3	+	0	1033				HNRNPA1L2_ENST00000357495.2_De_novo_Start_OutOfFrame|HNRNPA1L2_ENST00000398039.1_De_novo_Start_OutOfFrame	NM_001011724.1	NP_001011724.1	Q32P51	RA1L2_HUMAN	heterogeneous nuclear ribonucleoprotein A1-like 2						mRNA processing|mRNA transport|RNA splicing	cytoplasm|spliceosomal complex	nucleotide binding|RNA binding			cervix(1)|large_intestine(1)|lung(5)	7						CGTGGACGCCGCTGAAGAAGC	0.468													14	132					0	0	1	0	0	A	53216587	G	A	53216587	1	1	81	1	0	0	0	0	0	0	0	0	7299	1102	38	1		1	HNRNPA1L2	13	53216587	Translation_Start_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	203342	53216587	61953291	10235	13851											
SUGT1	10910	broad.mit.edu	37	13	53227196	53227196	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:53227196C>A	ENST00000310528.8	+	2	109	c.54C>A	c.(52-54)ttC>ttA	p.F18L	SUGT1_ENST00000483074.1_3'UTR|SUGT1_ENST00000343788.6_Missense_Mutation_p.F18L|SUGT1_ENST00000535397.1_5'UTR			Q9Y2Z0	SUGT1_HUMAN	SGT1, suppressor of G2 allele of SKP1 (S. cerevisiae)						mitosis	kinetochore|ubiquitin ligase complex	binding			kidney(3)|large_intestine(3)|lung(2)	8		Lung NSC(96;0.00212)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.25e-08)		TCCAGAGCTTCTCGGATGCCC	0.522											OREG0022432	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	32	68					6.97489e-18	9.02363e-18	1	1	0	A	53227196	C	A	53227196	3	1	81	1	0	0	0	0	1	0	0	0	15425	912	32	4	60	4	SUGT1	13	53227196	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	10609	53227196	61942682	10236	13852											
LECT1	11061	broad.mit.edu	37	13	53277790	53277790	+	Silent	SNP	C	C	T	rs78575404	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:53277790C>T	ENST00000448904.2	-	7	1052	c.942G>A	c.(940-942)tcG>tcA	p.S314S	LECT1_ENST00000377962.3_Silent_p.S315S	NM_001011705.1|NM_007015.2	NP_001011705.1|NP_008946.1	O75829	LECT1_HUMAN	leukocyte cell derived chemotaxin 1	315					cartilage development|proteoglycan metabolic process	endomembrane system|extracellular region|integral to membrane				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|urinary_tract(1)	15		Lung NSC(96;0.00212)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.38e-08)		CTCTGCAGGCCGAACGGCAGC	0.493													15	41					0	0	1	0	0	T	53277790	C	T	53277790	2	4	81	1	0	0	0	0	0	0	0	1	8751	639	23	1		1	LECT1	13	53277790	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	50594	53277790	61892088	10237	13853											
LECT1	11061	broad.mit.edu	37	13	53282703	53282703	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:53282703A>C	ENST00000448904.2	-	6	867	c.757T>G	c.(757-759)Tca>Gca	p.S253A	LECT1_ENST00000377962.3_Missense_Mutation_p.S253A	NM_001011705.1|NM_007015.2	NP_001011705.1|NP_008946.1	O75829	LECT1_HUMAN	leukocyte cell derived chemotaxin 1	253					cartilage development|proteoglycan metabolic process	endomembrane system|extracellular region|integral to membrane				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|urinary_tract(1)	15		Lung NSC(96;0.00212)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.38e-08)		AAGGCTTGTGAGTCCTCTTGA	0.468													18	42					0	0	1	0	0	C	53282703	A	C	53282703	3	2	81	1	0	0	0	0	1	0	0	0	8751	304	11	5	255	5	LECT1	13	53282703	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	4913	53282703	61887175	10238	13854											
PCDH8	5100	broad.mit.edu	37	13	53418936	53418936	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:53418936G>A	ENST00000377942.3	-	3	3175	c.2972C>T	c.(2971-2973)aCg>aTg	p.T991M	PCDH8_ENST00000338862.4_Missense_Mutation_p.T894M	NM_002590.3	NP_002581.2	O95206	PCDH8_HUMAN	protocadherin 8	991					cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		AGGCAGTGACGTGCTCTTACA	0.607													16	34					0	0	1	0	0	A	53418936	G	A	53418936	3	1	81	1	0	0	0	0	1	0	0	0	11564	1145	40	1	244	1	PCDH8	13	53418936	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	136233	53418936	61750942	10239	13855											
PCDH8	5100	broad.mit.edu	37	13	53422376	53422376	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:53422376T>G	ENST00000377942.3	-	1	399	c.196A>C	c.(196-198)Atg>Ctg	p.M66L	PCDH8_ENST00000338862.4_Missense_Mutation_p.M66L	NM_002590.3	NP_002581.2	O95206	PCDH8_HUMAN	protocadherin 8	66	Cadherin 1.				cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		AATTGCTTCATCAGGCGGAAG	0.657													5	93					0	0	1	0	0	G	53422376	T	G	53422376	3	3	81	1	0	0	0	0	1	0	0	0	11564	1435	50	4	3028	4	PCDH8	13	53422376	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	3440	53422376	61747502	10240	13856											
TDRD3	81550	broad.mit.edu	37	13	61060002	61060002	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:61060002C>T	ENST00000196169.3	+	7	1146	c.358C>T	c.(358-360)Cct>Tct	p.P120S	TDRD3_ENST00000535286.1_Missense_Mutation_p.P213S|TDRD3_ENST00000377894.2_Missense_Mutation_p.P120S|TDRD3_ENST00000377881.2_Missense_Mutation_p.P120S	NM_001146071.1|NM_030794.2	NP_001139543.1|NP_110421.1	Q9H7E2	TDRD3_HUMAN	tudor domain containing 3	120					chromatin modification	cytoplasm|nucleus	chromatin binding|methylated histone residue binding|nucleic acid binding|transcription coactivator activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	40		Prostate(109;0.173)|Breast(118;0.174)		GBM - Glioblastoma multiforme(99;0.000291)		AGTTACAATGCCTGTCAAACC	0.353													14	26					0	0	1	0	0	T	61060002	C	T	61060002	3	4	81	1	0	0	0	0	1	0	0	0	15791	739	26	2	663	2	TDRD3	13	61060002	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	7637626	61060002	54109876	10241	13857											
TDRD3	81550	broad.mit.edu	37	13	61083899	61083899	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:61083899T>C	ENST00000196169.3	+	9	1370	c.582T>C	c.(580-582)gtT>gtC	p.V194V	TDRD3_ENST00000535286.1_Silent_p.V287V|TDRD3_ENST00000377881.2_Silent_p.V194V|TDRD3_ENST00000377894.2_Silent_p.V194V	NM_001146071.1|NM_030794.2	NP_001139543.1|NP_110421.1	Q9H7E2	TDRD3_HUMAN	tudor domain containing 3	194	UBA.				chromatin modification	cytoplasm|nucleus	chromatin binding|methylated histone residue binding|nucleic acid binding|transcription coactivator activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	40		Prostate(109;0.173)|Breast(118;0.174)		GBM - Glioblastoma multiforme(99;0.000291)		CCTTCCAGGTTGATGAGAAAG	0.408													18	176					0	0	1	0	0	C	61083899	T	C	61083899	2	2	81	1	0	0	0	0	0	0	0	1	15791	1799	63	3		3	TDRD3	13	61083899	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	23897	61083899	54085979	10242	13858											
PCDH20	64881	broad.mit.edu	37	13	61986332	61986332	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:61986332C>T	ENST00000409186.1	-	5	4005	c.1900G>A	c.(1900-1902)Gac>Aac	p.D634N	PCDH20_ENST00000409204.4_Missense_Mutation_p.D634N			Q8N6Y1	PCD20_HUMAN	protocadherin 20	607	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		GGACTGTTGTCATTTTTATCC	0.438													4	49					0	0	1	0	0	T	61986332	C	T	61986332	3	4	81	1	0	0	0	0	1	0	0	0	11562	826	29	2	959	2	PCDH20	13	61986332	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	902433	61986332	53183546	10243	13859											
KLHL1	57626	broad.mit.edu	37	13	70314679	70314679	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:70314679A>G	ENST00000377844.4	-	8	2408	c.1649T>C	c.(1648-1650)gTa>gCa	p.V550A	KLHL1_ENST00000545028.1_Missense_Mutation_p.V357A	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	550					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		GCCTTCAAGTACTGTTACACC	0.368													22	31					0	0	1	0	0	G	70314679	A	G	70314679	3	3	81	1	0	0	0	0	1	0	0	0	8408	391	14	3	613	3	KLHL1	13	70314679	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	8328347	70314679	44855199	10244	13860											
KLHL1	57626	broad.mit.edu	37	13	70681612	70681612	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:70681612A>G	ENST00000377844.4	-	1	979	c.220T>C	c.(220-222)Tcc>Ccc	p.S74P	ATXN8OS_ENST00000414504.2_RNA|KLHL1_ENST00000545028.1_5'UTR	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	74	Ser-rich.				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		gaggaagaggaggaagGCTTC	0.592													18	43					0	0	1	0	0	G	70681612	A	G	70681612	3	3	81	1	0	0	0	0	1	0	0	0	8408	304	11	3	2070	3	KLHL1	13	70681612	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	366933	70681612	44488266	10245	13861											
DACH1	1602	broad.mit.edu	37	13	72204729	72204729	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:72204729T>C	ENST00000305425.4	-	3	1513	c.1091A>G	c.(1090-1092)cAt>cGt	p.H364R	DACH1_ENST00000313174.7_Missense_Mutation_p.H364R|DACH1_ENST00000359684.2_Missense_Mutation_p.H364R|DACH1_ENST00000354591.4_Intron	NM_080759.4	NP_542937.2	Q9UI36	DACH1_HUMAN	dachshund homolog 1 (Drosophila)	362	Interaction with SIX6 and HDAC3 (By similarity).				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|nucleotide binding|protein binding			NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		GTCTGCTCCATGTTGGTTATT	0.398													81	159					0	0	1	0	0	C	72204729	T	C	72204729	3	2	81	1	0	0	0	0	1	0	0	0	4244	1464	51	3	1071	3	DACH1	13	72204729	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	1523117	72204729	42965149	10246	13862											
PIBF1	10464	broad.mit.edu	37	13	73401954	73401954	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:73401954C>A	ENST00000326291.6	+	8	1337	c.999C>A	c.(997-999)cgC>cgA	p.R333R		NM_006346.2	NP_006337.2	Q8WXW3	PIBF1_HUMAN	progesterone immunomodulatory binding factor 1	333				R -> C (in Ref. 3; CAA70844).		centrosome				breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24		Prostate(6;0.00191)|Breast(118;0.0736)|Acute lymphoblastic leukemia(28;0.0865)		GBM - Glioblastoma multiforme(99;0.000664)		TTAGTGTTCGCTGTGCTCATG	0.393													6	63					0.0293803	0.0300537	1	1	0	A	73401954	C	A	73401954	2	1	81	1	0	0	0	0	0	0	0	1	11927	784	28	4		4	PIBF1	13	73401954	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1197225	73401954	41767924	10247	13863											
PIBF1	10464	broad.mit.edu	37	13	73505372	73505372	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:73505372T>G	ENST00000326291.6	+	14	2138	c.1800T>G	c.(1798-1800)caT>caG	p.H600Q		NM_006346.2	NP_006337.2	Q8WXW3	PIBF1_HUMAN	progesterone immunomodulatory binding factor 1	600				DLEHRKDQVTQLSQELDR -> RSGTSKGPSNTAFTRSLTE (in Ref. 3; AAQ67659).		centrosome				breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24		Prostate(6;0.00191)|Breast(118;0.0736)|Acute lymphoblastic leukemia(28;0.0865)		GBM - Glioblastoma multiforme(99;0.000664)		ATCTGGAACATCGAAAGGACC	0.313													5	36					0	0	1	0	0	G	73505372	T	G	73505372	3	3	81	1	0	0	0	0	1	0	0	0	11927	1432	50	4	1850	4	PIBF1	13	73505372	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	103418	73505372	41664506	10248	13864											
PIBF1	10464	broad.mit.edu	37	13	73547757	73547757	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:73547757C>A	ENST00000326291.6	+	16	2331	c.1993C>A	c.(1993-1995)Cta>Ata	p.L665I	PIBF1_ENST00000489922.1_3'UTR	NM_006346.2	NP_006337.2	Q8WXW3	PIBF1_HUMAN	progesterone immunomodulatory binding factor 1	665						centrosome				breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24		Prostate(6;0.00191)|Breast(118;0.0736)|Acute lymphoblastic leukemia(28;0.0865)		GBM - Glioblastoma multiforme(99;0.000664)		GTCAGCTTTACTACAGACGAA	0.254													17	29					2.4624e-09	2.97042e-09	1	1	0	A	73547757	C	A	73547757	3	1	81	1	0	0	0	0	1	0	0	0	11927	564	20	4	2051	4	PIBF1	13	73547757	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	42385	73547757	41622121	10249	13865											
KLF5	688	broad.mit.edu	37	13	73636832	73636832	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:73636832C>A	ENST00000377687.4	+	2	1631	c.1095C>A	c.(1093-1095)ccC>ccA	p.P365P	KLF5_ENST00000539231.1_Silent_p.P274P	NM_001730.3	NP_001721.2	Q13887	KLF5_HUMAN	Kruppel-like factor 5 (intestinal)	365					transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Prostate(6;0.00187)|Breast(118;0.0735)		GBM - Glioblastoma multiforme(99;0.0011)		GGAGTAACCCCGATTTGGAGA	0.443													6	89					0.00116845	0.00124301	1	1	0	A	73636832	C	A	73636832	2	1	81	1	0	0	0	0	0	0	0	1	8392	639	23	5		5	KLF5	13	73636832	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	89075	73636832	41533046	10250	13866											
KLF12	11278	broad.mit.edu	37	13	74420243	74420243	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:74420243T>G	ENST00000377669.2	-	3	417	c.391A>C	c.(391-393)Aca>Cca	p.T131P	KLF12_ENST00000377666.4_Missense_Mutation_p.T131P|KLF12_ENST00000472022.1_5'UTR	NM_007249.4	NP_009180.3	Q9Y4X4	KLF12_HUMAN	Kruppel-like factor 12	131					negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	16		Prostate(6;0.00217)|Breast(118;0.0838)		GBM - Glioblastoma multiforme(99;0.00677)		GATACTGATGTGATAACAGTT	0.488													11	13					0	0	1	0	0	G	74420243	T	G	74420243	3	3	81	1	0	0	0	0	1	0	0	0	8383	1696	59	5	837	5	KLF12	13	74420243	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	783411	74420243	40749635	10251	13867											
TBC1D4	9882	broad.mit.edu	37	13	75873473	75873473	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:75873473G>A	ENST00000377636.3	-	17	3495	c.3149C>T	c.(3148-3150)tCg>tTg	p.S1050L	TBC1D4_ENST00000377625.2_Missense_Mutation_p.S987L|TBC1D4_ENST00000425511.1_Missense_Mutation_p.S214L|TBC1D4_ENST00000478591.1_5'UTR|TBC1D4_ENST00000431480.2_Missense_Mutation_p.S1042L	NM_014832.2	NP_055647.2	O60343	TBCD4_HUMAN	TBC1 domain family, member 4	1050	Rab-GAP TBC.					cytoplasm	Rab GTPase activator activity	p.S1050L(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		CACCTGCAGCGACATCATGTC	0.468													12	22					0	0	1	0	0	A	75873473	G	A	75873473	3	1	81	1	0	0	0	0	1	0	0	0	15682	1059	37	1	767	1	TBC1D4	13	75873473	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1453230	75873473	39296405	10252	13868											
TBC1D4	9882	broad.mit.edu	37	13	75887029	75887029	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:75887029C>T	ENST00000377636.3	-	13	2574	c.2228G>A	c.(2227-2229)gGa>gAa	p.G743E	TBC1D4_ENST00000377625.2_Missense_Mutation_p.G680E|TBC1D4_ENST00000425511.1_5'UTR|TBC1D4_ENST00000431480.2_Missense_Mutation_p.G735E	NM_014832.2	NP_055647.2	O60343	TBCD4_HUMAN	TBC1 domain family, member 4	743	Ser-rich.					cytoplasm	Rab GTPase activator activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		TCTCCCTTCTCCATCACTGTT	0.488													7	23					0	0	1	0	0	T	75887029	C	T	75887029	3	4	81	1	0	0	0	0	1	0	0	0	15682	855	30	2	1704	2	TBC1D4	13	75887029	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	13556	75887029	39282849	10253	13869											
TBC1D4	9882	broad.mit.edu	37	13	75911063	75911063	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:75911063G>T	ENST00000377636.3	-	8	2071	c.1725C>A	c.(1723-1725)ttC>ttA	p.F575L	TBC1D4_ENST00000377625.2_Missense_Mutation_p.F575L|TBC1D4_ENST00000425511.1_5'UTR|TBC1D4_ENST00000431480.2_Missense_Mutation_p.F575L	NM_014832.2	NP_055647.2	O60343	TBCD4_HUMAN	TBC1 domain family, member 4	575						cytoplasm	Rab GTPase activator activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		TTACCCTTGAGAAGATATTTT	0.378													4	47					1.23904e-05	1.39156e-05	1	1	0	T	75911063	G	T	75911063	3	4	81	1	0	0	0	0	1	0	0	0	15682	933	33	4	2227	4	TBC1D4	13	75911063	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	24034	75911063	39258815	10254	13870											
UCHL3	7347	broad.mit.edu	37	13	76169105	76169105	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:76169105G>T	ENST00000377595.3	+	7	559	c.529G>T	c.(529-531)Gat>Tat	p.D177Y	RP11-29G8.3_ENST00000563635.1_RNA|UCHL3_ENST00000606347.1_3'UTR	NM_001270952.1|NM_006002.4	NP_001257881.1|NP_005993.1	P15374	UCHL3_HUMAN	ubiquitin carboxyl-terminal esterase L3 (ubiquitin thiolesterase)	177					ubiquitin-dependent protein catabolic process	cytoplasm	cysteine-type peptidase activity|ubiquitin binding|ubiquitin thiolesterase activity			kidney(1)|large_intestine(2)|lung(3)|skin(1)	7				GBM - Glioblastoma multiforme(99;0.0125)		AGTTCATGTAGATGGGCATCT	0.333													14	213					4.93089e-13	6.20298e-13	1	1	0	T	76169105	G	T	76169105	3	4	81	1	0	0	0	0	1	0	0	0	16981	942	33	4	555	4	UCHL3	13	76169105	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	258042	76169105	39000773	10255	13871											
LMO7	4008	broad.mit.edu	37	13	76287327	76287327	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:76287327G>T	ENST00000357063.3	+	3	1495	c.235G>T	c.(235-237)Gag>Tag	p.E79*	RP11-29G8.3_ENST00000563635.1_RNA|LMO7_ENST00000341547.4_Nonsense_Mutation_p.E79*|LMO7_ENST00000377534.3_Nonsense_Mutation_p.E79*			Q8WWI1	LMO7_HUMAN	LIM domain 7	79	CH.					cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		GGCAGTAACAGAGAAGAATTT	0.303													5	18					0.000602214	0.000646338	1	1	0	T	76287327	G	T	76287327	4	4	81	1	0	0	0	0	0	1	0	0	8896	943	33	4	245	4	LMO7	13	76287327	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	118222	76287327	38882551	10256	13872											
LMO7	4008	broad.mit.edu	37	13	76395515	76395515	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:76395515C>T	ENST00000357063.3	+	15	3826	c.2566C>T	c.(2566-2568)Cgt>Tgt	p.R856C	LMO7_ENST00000526202.1_Missense_Mutation_p.R421C|LMO7_ENST00000321797.8_Missense_Mutation_p.R571C|LMO7_ENST00000341547.4_Missense_Mutation_p.R522C|LMO7_ENST00000465261.2_Missense_Mutation_p.R571C|LMO7_ENST00000377534.3_Missense_Mutation_p.R856C			Q8WWI1	LMO7_HUMAN	LIM domain 7	856						cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		AAGAGAGGACCGTGTAACAAC	0.438													17	61					0	0	1	0	0	T	76395515	C	T	76395515	3	4	81	1	0	0	0	0	1	0	0	0	8896	652	23	1	2624	1	LMO7	13	76395515	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	108188	76395515	38774363	10257	13873											
LMO7	4008	broad.mit.edu	37	13	76409325	76409325	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:76409325G>A	ENST00000526202.1	+	13	2195	c.2115G>A	c.(2113-2115)cgG>cgA	p.R705R	LMO7_ENST00000321797.8_Intron|LMO7_ENST00000341547.4_Intron|LMO7_ENST00000465261.2_Intron|LMO7_ENST00000377534.3_Intron|LMO7_ENST00000357063.3_Intron			Q8WWI1	LMO7_HUMAN	LIM domain 7	1127						cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		CATTTATACGGCATAAAACCC	0.388													12	22					0	0	1	0	0	A	76409325	G	A	76409325	2	1	81	1	0	0	0	0	0	0	0	1	8896	1218	42	2		2	LMO7	13	76409325	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	13810	76409325	38760553	10258	13874											
LMO7	4008	broad.mit.edu	37	13	76416016	76416016	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:76416016C>T	ENST00000357063.3	+	25	5344	c.4084C>T	c.(4084-4086)Cgg>Tgg	p.R1362W	LMO7_ENST00000526202.1_Missense_Mutation_p.R954W|LMO7_ENST00000321797.8_Missense_Mutation_p.R1077W|LMO7_ENST00000341547.4_Missense_Mutation_p.R1028W|LMO7_ENST00000465261.2_Missense_Mutation_p.R1077W|LMO7_ENST00000377534.3_Missense_Mutation_p.R1362W			Q8WWI1	LMO7_HUMAN	LIM domain 7	1362						cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		AGAGCAAAAGCGGCTTCAGGC	0.522													20	34					0	0	1	0	0	T	76416016	C	T	76416016	3	4	81	1	0	0	0	0	1	0	0	0	8896	759	27	1	4182	1	LMO7	13	76416016	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	6691	76416016	38753862	10259	13875											
LMO7	4008	broad.mit.edu	37	13	76427474	76427474	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:76427474G>A	ENST00000357063.3	+	29	6027	c.4767G>A	c.(4765-4767)ccG>ccA	p.P1589P	LMO7_ENST00000526202.1_Silent_p.P1181P|LMO7_ENST00000321797.8_Silent_p.P1304P|LMO7_ENST00000341547.4_Silent_p.P1255P|LMO7_ENST00000465261.2_Silent_p.P1304P|LMO7_ENST00000377534.3_Silent_p.P1589P			Q8WWI1	LMO7_HUMAN	LIM domain 7	1589						cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		CCCCCACCCCGAGAAGCCATT	0.577													10	15					0	0	1	0	0	A	76427474	G	A	76427474	2	1	81	1	0	0	0	0	0	0	0	1	8896	1045	37	1		1	LMO7	13	76427474	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	11458	76427474	38742404	10260	13876											
CLN5	1203	broad.mit.edu	37	13	77569213	77569213	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:77569213T>C	ENST00000377453.3	+	2	1628	c.336T>C	c.(334-336)cgT>cgC	p.R112R	CLN5_ENST00000485938.1_3'UTR	NM_006493.2	NP_006484.1	O75503	CLN5_HUMAN	ceroid-lipofuscinosis, neuronal 5	63					brain development|cell death|lysosomal lumen acidification|neuron maturation|protein catabolic process	endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosomal membrane|perinuclear region of cytoplasm	protein binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	16		Acute lymphoblastic leukemia(28;0.205)		GBM - Glioblastoma multiforme(99;0.0503)		TTGACTTCCGTCCAAAACCTG	0.363													12	85					0	0	1	0	0	C	77569213	T	C	77569213	2	2	81	1	0	0	0	0	0	0	0	1	3567	1654	58	3		3	CLN5	13	77569213	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	1141739	77569213	37600665	10261	13877											
FBXL3	26224	broad.mit.edu	37	13	77581815	77581815	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:77581815C>T	ENST00000355619.5	-	5	1076	c.752G>A	c.(751-753)cGa>cAa	p.R251Q	FBXL3_ENST00000477982.1_Intron	NM_012158.2	NP_036290.1	Q9UKT7	FBXL3_HUMAN	F-box and leucine-rich repeat protein 3	251					regulation of circadian rhythm|rhythmic process|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|SCF ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|urinary_tract(1)	16		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.218)		GBM - Glioblastoma multiforme(99;0.0521)		ATGTTCTAATCGAACATGTTT	0.418													7	61					0	0	1	0	0	T	77581815	C	T	77581815	3	4	81	1	0	0	0	0	1	0	0	0	5753	884	31	1	538	1	FBXL3	13	77581815	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	12602	77581815	37588063	10262	13878											
MYCBP2	23077	broad.mit.edu	37	13	77631174	77631174	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:77631174G>A	ENST00000407578.2	-	79	13650	c.13384C>T	c.(13384-13386)Cga>Tga	p.R4462*	MYCBP2_ENST00000544440.2_Nonsense_Mutation_p.R4424*|MYCBP2_ENST00000357337.6_Nonsense_Mutation_p.R4424*	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	4424					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		CCAAGCCATCGATTTTCTAAT	0.333													46	62					0	0	1	0	0	A	77631174	G	A	77631174	4	1	81	1	0	0	0	0	0	1	0	0	10066	1066	37	1	672	1	MYCBP2	13	77631174	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	49359	77631174	37538704	10263	13879											
MYCBP2	23077	broad.mit.edu	37	13	77632512	77632512	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:77632512C>T	ENST00000407578.2	-	78	13436	c.13170G>A	c.(13168-13170)acG>acA	p.T4390T	MYCBP2_ENST00000544440.2_Silent_p.T4352T|MYCBP2_ENST00000357337.6_Silent_p.T4352T	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	4352					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		CACAAGGATGCGTCTTACTAC	0.428													16	24					0	0	1	0	0	T	77632512	C	T	77632512	2	4	81	1	0	0	0	0	0	0	0	1	10066	755	27	1		1	MYCBP2	13	77632512	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1338	77632512	37537366	10264	13880											
MYCBP2	23077	broad.mit.edu	37	13	77661658	77661658	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:77661658C>A	ENST00000407578.2	-	62	11102	c.10836G>T	c.(10834-10836)gaG>gaT	p.E3612D	MYCBP2-AS1_ENST00000450627.2_RNA|MYCBP2_ENST00000544440.2_Missense_Mutation_p.E3574D|MYCBP2-AS1_ENST00000593933.1_RNA|MYCBP2_ENST00000357337.6_Missense_Mutation_p.E3574D|MYCBP2-AS1_ENST00000448470.2_RNA|MYCBP2-AS1_ENST00000422231.2_RNA	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	3574					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		TTTCTTCATCCTCTTCTTCCT	0.363													14	21					0.000219431	0.000239308	1	1	0	A	77661658	C	A	77661658	3	1	81	1	0	0	0	0	1	0	0	0	10066	680	24	4	3288	4	MYCBP2	13	77661658	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	29146	77661658	37508220	10265	13881											
MYCBP2	23077	broad.mit.edu	37	13	77670496	77670496	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:77670496C>T	ENST00000407578.2	-	57	10171	c.9905G>A	c.(9904-9906)cGc>cAc	p.R3302H	MYCBP2_ENST00000544440.2_Missense_Mutation_p.R3264H|MYCBP2-AS1_ENST00000593933.1_RNA|MYCBP2_ENST00000357337.6_Missense_Mutation_p.R3264H	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	3264					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		TTCTCTACAGCGATCACATAC	0.433													32	83					0	0	1	0	0	T	77670496	C	T	77670496	3	4	81	1	0	0	0	0	1	0	0	0	10066	768	27	1	4239	1	MYCBP2	13	77670496	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	8838	77670496	37499382	10266	13882											
MYCBP2	23077	broad.mit.edu	37	13	77671996	77671996	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:77671996T>C	ENST00000407578.2	-	56	9559	c.9293A>G	c.(9292-9294)aAt>aGt	p.N3098S	MYCBP2_ENST00000544440.2_Missense_Mutation_p.N3060S|MYCBP2-AS1_ENST00000593933.1_RNA|MYCBP2_ENST00000357337.6_Missense_Mutation_p.N3060S	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	3060					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		ATTAAACATATTCAGTGCAGA	0.353													29	67					0	0	1	0	0	C	77671996	T	C	77671996	3	2	81	1	0	0	0	0	1	0	0	0	10066	1493	52	3	4855	3	MYCBP2	13	77671996	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	1500	77671996	37497882	10267	13883											
MYCBP2	23077	broad.mit.edu	37	13	77755901	77755901	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:77755901C>T	ENST00000407578.2	-	33	5142	c.4876G>A	c.(4876-4878)Gag>Aag	p.E1626K	MYCBP2_ENST00000544440.2_Missense_Mutation_p.E1588K|MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000357337.6_Missense_Mutation_p.E1588K	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	1588					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		GAGTCGTTCTCTGTACTAACT	0.423													46	58					0	0	1	0	0	T	77755901	C	T	77755901	3	4	81	1	0	0	0	0	1	0	0	0	10066	922	32	2	9364	2	MYCBP2	13	77755901	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	83905	77755901	37413977	10268	13884											
SLAIN1	122060	broad.mit.edu	37	13	78327371	78327371	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:78327371G>A	ENST00000466548.1	+	6	1252	c.1226G>A	c.(1225-1227)cGg>cAg	p.R409Q	SLAIN1_ENST00000351546.3_Missense_Mutation_p.R146Q|SLAIN1_ENST00000488699.1_Missense_Mutation_p.R267Q|SLAIN1_ENST00000418532.1_Missense_Mutation_p.R190Q|SLAIN1_ENST00000314070.5_Missense_Mutation_p.R32Q|SLAIN1_ENST00000267219.8_Missense_Mutation_p.R190Q|SLAIN1_ENST00000358679.3_Missense_Mutation_p.R146Q	NM_001242868.1	NP_001229797.1	Q8ND83	SLAI1_HUMAN	SLAIN motif family, member 1	409										breast(1)|endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0853)		AACCTAGCCCGGATGCCAAGT	0.413													15	33					0	0	1	0	0	A	78327371	G	A	78327371	3	1	81	1	0	0	0	0	1	0	0	0	14420	1116	39	1	583	1	SLAIN1	13	78327371	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	571470	78327371	36842507	10269	13885											
EDNRB	1910	broad.mit.edu	37	13	78492476	78492476	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:78492476G>A	ENST00000377211.4	-	2	655	c.503C>T	c.(502-504)gCa>gTa	p.A168V	EDNRB_ENST00000334286.5_Missense_Mutation_p.A78V|EDNRB_ENST00000446573.1_Missense_Mutation_p.A78V|EDNRB_ENST00000475537.1_5'UTR	NM_001201397.1	NP_001188326.1	P24530	EDNRB_HUMAN	endothelin receptor type B	78					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|enteric nervous system development|enteric smooth muscle cell differentiation|macrophage chemotaxis|negative regulation of adenylate cyclase activity|negative regulation of cellular protein metabolic process|negative regulation of neuron maturation|negative regulation of transcription from RNA polymerase II promoter|vein smooth muscle contraction	integral to plasma membrane	endothelin-B receptor activity|peptide hormone binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(18)|lung(16)|skin(3)	42		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0933)	Bosentan(DB00559)	CGGAGATCCTGCCGTCCTGTC	0.582													23	21					0	0	1	0	0	A	78492476	G	A	78492476	3	1	81	1	0	0	0	0	1	0	0	0	4946	1319	46	2	1244	2	EDNRB	13	78492476	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	165105	78492476	36677402	10270	13886											
RNF219	79596	broad.mit.edu	37	13	79219113	79219113	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:79219113C>T	ENST00000282003.6	-	2	150	c.92G>A	c.(91-93)tGc>tAc	p.C31Y		NM_024546.3	NP_078822.3	Q5W0B1	RN219_HUMAN	ring finger protein 219	31							zinc ion binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|liver(1)|lung(11)|prostate(1)|skin(1)	32		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)		GBM - Glioblastoma multiforme(99;0.0414)		GTTGTTGATGCATATGACAGG	0.378													26	44					0	0	1	0	0	T	79219113	C	T	79219113	3	4	81	1	0	0	0	0	1	0	0	0	13534	710	25	2	2108	2	RNF219	13	79219113	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	726637	79219113	35950765	10271	13887											
RNF219	79596	broad.mit.edu	37	13	79233233	79233233	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:79233233A>C	ENST00000282003.6	-	1	81	c.23T>G	c.(22-24)gTt>gGt	p.V8G		NM_024546.3	NP_078822.3	Q5W0B1	RN219_HUMAN	ring finger protein 219	8							zinc ion binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|liver(1)|lung(11)|prostate(1)|skin(1)	32		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)		GBM - Glioblastoma multiforme(99;0.0414)		CGACAATGTAACATTCTGCAC	0.577													5	4					0	0	1	0	0	C	79233233	A	C	79233233	3	2	81	1	0	0	0	0	1	0	0	0	13534	43	2	5	2181	5	RNF219	13	79233233	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	14120	79233233	35936645	10272	13888											
RBM26	64062	broad.mit.edu	37	13	79911338	79911338	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:79911338G>T	ENST00000438737.2	-	19	3072	c.2632C>A	c.(2632-2634)Cga>Aga	p.R878R	RBM26_ENST00000267229.7_Silent_p.R851R|RBM26_ENST00000438724.1_Silent_p.R854R			Q5T8P6	RBM26_HUMAN	RNA binding motif protein 26	878					mRNA processing		nucleotide binding|protein binding|RNA binding|zinc ion binding			NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33		Acute lymphoblastic leukemia(28;0.0279)		GBM - Glioblastoma multiforme(99;0.0188)		GGCACACCTCGCCCTCGCCCT	0.562													10	22					1.08611e-07	1.27405e-07	1	1	0	T	79911338	G	T	79911338	2	4	81	1	0	0	0	0	0	0	0	1	13178	1095	38	5		5	RBM26	13	79911338	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	678105	79911338	35258540	10273	13889											
SLITRK6	84189	broad.mit.edu	37	13	86369036	86369036	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:86369036G>A	ENST00000400286.2	-	2	2206	c.1608C>T	c.(1606-1608)agC>agT	p.S536S		NM_032229.2	NP_115605.2	Q9H5Y7	SLIK6_HUMAN	SLIT and NTRK-like family, member 6	536	LRRCT 2.					integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		CTGTGTTCTTGCTTAACTTTT	0.463													13	37					0	0	1	0	0	A	86369036	G	A	86369036	2	1	81	1	0	0	0	0	0	0	0	1	14801	1310	46	2		2	SLITRK6	13	86369036	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	6457698	86369036	28800842	10274	13890											
SLITRK6	84189	broad.mit.edu	37	13	86369282	86369282	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:86369282G>A	ENST00000400286.2	-	2	1960	c.1362C>T	c.(1360-1362)acC>acT	p.T454T		NM_032229.2	NP_115605.2	Q9H5Y7	SLIK6_HUMAN	SLIT and NTRK-like family, member 6	454						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		TTGGATTAAAGGTTCCTGGCA	0.358													32	60					0	0	1	0	0	A	86369282	G	A	86369282	2	1	81	1	0	0	0	0	0	0	0	1	14801	987	35	2		2	SLITRK6	13	86369282	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	246	86369282	28800596	10275	13891											
SLITRK6	84189	broad.mit.edu	37	13	86370399	86370399	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:86370399T>C	ENST00000400286.2	-	2	843	c.245A>G	c.(244-246)aAt>aGt	p.N82S		NM_032229.2	NP_115605.2	Q9H5Y7	SLIK6_HUMAN	SLIT and NTRK-like family, member 6	82						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		AGAAAAGTCATTTGTGTGAAG	0.388													12	129					0	0	1	0	0	C	86370399	T	C	86370399	3	2	81	1	0	0	0	0	1	0	0	0	14801	1493	52	3	2284	3	SLITRK6	13	86370399	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	1117	86370399	28799479	10276	13892											
SLITRK5	26050	broad.mit.edu	37	13	88327968	88327968	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:88327968A>C	ENST00000325089.6	+	2	544	c.325A>C	c.(325-327)Att>Ctt	p.I109L	SLITRK5_ENST00000400028.3_Intron	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	109						integral to membrane				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					TGGGGCTTCAATTTTGCATCT	0.453													58	91					0	0	1	0	0	C	88327968	A	C	88327968	3	2	81	1	0	0	0	0	1	0	0	0	14800	101	4	4	327	4	SLITRK5	13	88327968	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	1957569	88327968	26841910	10277	13893											
GPC5	2262	broad.mit.edu	37	13	92345665	92345665	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:92345665A>G	ENST00000377067.3	+	3	922	c.550A>G	c.(550-552)Act>Gct	p.T184A		NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN	glypican 5	184						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				CCCTGGTGTGACTGACAGTTC	0.443													34	65					0	0	1	0	0	G	92345665	A	G	92345665	3	3	81	1	0	0	0	0	1	0	0	0	6641	275	10	3	560	3	GPC5	13	92345665	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	4017697	92345665	22824213	10278	13894											
GPC5	2262	broad.mit.edu	37	13	92797193	92797193	+	Silent	SNP	C	C	T	rs147244156		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:92797193C>T	ENST00000377067.3	+	7	1884	c.1512C>T	c.(1510-1512)tgC>tgT	p.C504C		NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN	glypican 5	504						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				AAGATGGTTGCGGGGGATCAG	0.443													11	37					0	0	1	0	0	T	92797193	C	T	92797193	2	4	81	1	0	0	0	0	0	0	0	1	6641	776	27	1		1	GPC5	13	92797193	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	451528	92797193	22372685	10279	13895											
TGDS	23483	broad.mit.edu	37	13	95230269	95230269	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:95230269A>G	ENST00000261296.5	-	9	935	c.815T>C	c.(814-816)cTa>cCa	p.L272P		NM_014305.2	NP_055120.1	O95455	TGDS_HUMAN	TDP-glucose 4,6-dehydratase	272					cellular metabolic process		coenzyme binding|dTDP-glucose 4,6-dehydratase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8	all_neural(89;0.0684)|Medulloblastoma(90;0.163)					CAGTTGTATTAGTTCTTTGGC	0.348													5	42					0	0	1	0	0	G	95230269	A	G	95230269	3	3	81	1	0	0	0	0	1	0	0	0	15874	420	15	3	253	3	TGDS	13	95230269	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	2433076	95230269	19939609	10280	13896											
ABCC4	10257	broad.mit.edu	37	13	95724085	95724085	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:95724085A>G	ENST00000376887.4	-	25	3155	c.3041T>C	c.(3040-3042)aTt>aCt	p.I1014T	ABCC4_ENST00000474158.1_5'UTR|ABCC4_ENST00000412704.1_Missense_Mutation_p.I967T	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 4	1014					platelet activation|platelet degranulation	integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Cefazolin(DB01327)	TGTGTATTCAATGACCCTTTC	0.433													22	49					0	0	1	0	0	G	95724085	A	G	95724085	3	3	81	1	0	0	0	0	1	0	0	0	55	101	4	3	964	3	ABCC4	13	95724085	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	493816	95724085	19445793	10281	13897											
ABCC4	10257	broad.mit.edu	37	13	95735409	95735409	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:95735409G>A	ENST00000376887.4	-	21	2785	c.2671C>T	c.(2671-2673)Cgc>Tgc	p.R891C	ABCC4_ENST00000412704.1_Missense_Mutation_p.R844C	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 4	891	ABC transmembrane type-1 2.				platelet activation|platelet degranulation	integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Cefazolin(DB01327)	GATTCCAGGCGCTTCACATCT	0.438													16	39					0	0	1	0	0	A	95735409	G	A	95735409	3	1	81	1	0	0	0	0	1	0	0	0	55	1087	38	1	1350	1	ABCC4	13	95735409	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	11324	95735409	19434469	10282	13898											
DZIP1	22873	broad.mit.edu	37	13	96237064	96237064	+	Missense_Mutation	SNP	G	G	A	rs149105659		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:96237064G>A	ENST00000347108.3	-	20	2882	c.2450C>T	c.(2449-2451)gCg>gTg	p.A817V	DZIP1_ENST00000361156.3_Missense_Mutation_p.A798V|DZIP1_ENST00000361396.2_Missense_Mutation_p.A798V|DZIP1_ENST00000376829.2_Missense_Mutation_p.A817V			Q86YF9	DZIP1_HUMAN	DAZ interacting zinc finger protein 1	817					germ cell development|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	nucleic acid binding|protein binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(20)|lung(11)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	38	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.141)			TTCATTTTTCGCAGGTGGAGG	0.458													39	44					0	0	1	0	0	A	96237064	G	A	96237064	3	1	81	1	0	0	0	0	1	0	0	0	4889	1087	38	1	161	1	DZIP1	13	96237064	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	501655	96237064	18932814	10283	13899											
DZIP1	22873	broad.mit.edu	37	13	96239874	96239874	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:96239874C>T	ENST00000347108.3	-	18	2569	c.2137G>A	c.(2137-2139)Ggg>Agg	p.G713R	DZIP1_ENST00000361156.3_Missense_Mutation_p.G694R|DZIP1_ENST00000361396.2_Missense_Mutation_p.G694R|DZIP1_ENST00000376829.2_Missense_Mutation_p.G713R			Q86YF9	DZIP1_HUMAN	DAZ interacting zinc finger protein 1	713					germ cell development|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	nucleic acid binding|protein binding|zinc ion binding	p.G713W(1)|p.G694W(1)		endometrium(1)|kidney(1)|large_intestine(20)|lung(11)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	38	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.141)			GTGTTCTTCCCGAAGCTGCCC	0.572													5	47					0	0	1	0	0	T	96239874	C	T	96239874	3	4	81	1	0	0	0	0	1	0	0	0	4889	652	23	1	482	1	DZIP1	13	96239874	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2810	96239874	18930004	10284	13900											
DZIP1	22873	broad.mit.edu	37	13	96241408	96241408	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:96241408G>A	ENST00000347108.3	-	17	2459	c.2027C>T	c.(2026-2028)aCg>aTg	p.T676M	DZIP1_ENST00000361156.3_Splice_Site_p.T657M|DZIP1_ENST00000361396.2_Splice_Site_p.T657M|DZIP1_ENST00000376829.2_Splice_Site_p.T676M			Q86YF9	DZIP1_HUMAN	DAZ interacting zinc finger protein 1	676					germ cell development|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	nucleic acid binding|protein binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(20)|lung(11)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	38	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.141)			CAATACTCACGTAATAGTTGA	0.303													11	36					0	0	1	0	0	A	96241408	G	A	96241408	5	1	81	1	0	0	0	0	0	0	1	0	4889	1159	40	1	596	1	DZIP1	13	96241408	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1534	96241408	18928470	10285	13901											
DZIP1	22873	broad.mit.edu	37	13	96241463	96241464	+	Splice_Site	INS	-	-	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:96241463_96241464insA	ENST00000347108.3	-	17	2406		c.e17-2		DZIP1_ENST00000361156.3_Splice_Site|DZIP1_ENST00000376829.2_Splice_Site|DZIP1_ENST00000361396.2_Splice_Site			Q86YF9	DZIP1_HUMAN	DAZ interacting zinc finger protein 1						germ cell development|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	nucleic acid binding|protein binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(20)|lung(11)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	38	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.141)			TTCTTAATTCTAAAAAAACAAC	0.277													16	25	---	---	---	---						A	96241464	-	A	96241463	8	5	81	1	0	1	1	0	0	0	1	0	4889	1536	53	0	651	0	DZIP1	13	96241463	Splice_Site	INS	-	TCGA-DU-6392-01A-11D-1705-08	55	96241463	18928415	10286	13902											
DNAJC3	5611	broad.mit.edu	37	13	96377474	96377474	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:96377474C>T	ENST00000602402.1	+	4	478	c.361C>T	c.(361-363)Ctt>Ttt	p.L121F	DNAJC3_ENST00000376795.6_Missense_Mutation_p.L121F	NM_006260.4	NP_006251.1	Q13217	DNJC3_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 3	121					protein folding|response to unfolded protein|response to virus		heat shock protein binding|protein kinase inhibitor activity|unfolded protein binding			NS(1)|breast(1)|kidney(4)|large_intestine(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.126)			ACAAGGAAAACTTGATGAAGC	0.299													4	53					0	0	1	0	0	T	96377474	C	T	96377474	3	4	81	1	0	0	0	0	1	0	0	0	4674	565	20	2	375	2	DNAJC3	13	96377474	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	136011	96377474	18792404	10287	13903											
DNAJC3	5611	broad.mit.edu	37	13	96439386	96439386	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:96439386C>T	ENST00000602402.1	+	11	1451	c.1334C>T	c.(1333-1335)gCt>gTt	p.A445V	DNAJC3_ENST00000376795.6_Missense_Mutation_p.A394V	NM_006260.4	NP_006251.1	Q13217	DNJC3_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 3	445	J.				protein folding|response to unfolded protein|response to virus		heat shock protein binding|protein kinase inhibitor activity|unfolded protein binding			NS(1)|breast(1)|kidney(4)|large_intestine(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.126)			ATAGCAGCTGCTAAAGAAGTC	0.413													33	81					0	0	1	0	0	T	96439386	C	T	96439386	3	4	81	1	0	0	0	0	1	0	0	0	4674	797	28	2	1376	2	DNAJC3	13	96439386	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	61912	96439386	18730492	10288	13904											
UGGT2	55757	broad.mit.edu	37	13	96624864	96624864	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:96624864C>T	ENST00000376747.3	-	11	1224	c.1154G>A	c.(1153-1155)cGt>cAt	p.R385H		NM_020121.3	NP_064506.3	Q9NYU1	UGGG2_HUMAN	UDP-glucose glycoprotein glucosyltransferase 2	385					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2)	60						CATATCAACACGAAGGCCATT	0.313													5	50					0	0	1	0	0	T	96624864	C	T	96624864	3	4	81	1	0	0	0	0	1	0	0	0	17002	536	19	1	3512	1	UGGT2	13	96624864	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	185478	96624864	18545014	10289	13905											
IPO5	3843	broad.mit.edu	37	13	98645166	98645166	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:98645166C>T	ENST00000261574.5	+	10	924	c.744C>T	c.(742-744)taC>taT	p.Y248Y	IPO5_ENST00000490680.1_Silent_p.Y230Y|IPO5_ENST00000539640.1_Silent_p.Y105Y	NM_002271.4	NP_002262.3	O00410	IPO5_HUMAN	importin 5	230					interspecies interaction between organisms|NLS-bearing substrate import into nucleus|ribosomal protein import into nucleus	cytoplasm|nuclear pore|nucleolus	GTPase inhibitor activity|protein transporter activity|Ran GTPase binding			breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	27						ACTCGTGCTACCAGAATGATG	0.408													27	54					0	0	1	0	0	T	98645166	C	T	98645166	2	4	81	1	0	0	0	0	0	0	0	1	7840	518	18	2		2	IPO5	13	98645166	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2020302	98645166	16524712	10290	13906											
IPO5	3843	broad.mit.edu	37	13	98652797	98652797	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:98652797G>A	ENST00000261574.5	+	13	1240	c.1060G>A	c.(1060-1062)Gca>Aca	p.A354T	IPO5_ENST00000490680.1_Missense_Mutation_p.A336T|IPO5_ENST00000539640.1_Missense_Mutation_p.A211T	NM_002271.4	NP_002262.3	O00410	IPO5_HUMAN	importin 5	336	Ran-GTP binding (By similarity).				interspecies interaction between organisms|NLS-bearing substrate import into nucleus|ribosomal protein import into nucleus	cytoplasm|nuclear pore|nucleolus	GTPase inhibitor activity|protein transporter activity|Ran GTPase binding			breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	27						GTTTAGCAATGCAGTTGCAGG	0.368													6	46					0	0	1	0	0	A	98652797	G	A	98652797	3	1	81	1	0	0	0	0	1	0	0	0	7840	1319	46	2	1102	2	IPO5	13	98652797	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	7631	98652797	16517081	10291	13907											
IPO5	3843	broad.mit.edu	37	13	98654812	98654812	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:98654812C>T	ENST00000261574.5	+	14	1434	c.1254C>T	c.(1252-1254)atC>atT	p.I418I	IPO5_ENST00000490680.1_Silent_p.I400I|IPO5_ENST00000539640.1_Silent_p.I275I	NM_002271.4	NP_002262.3	O00410	IPO5_HUMAN	importin 5	400					interspecies interaction between organisms|NLS-bearing substrate import into nucleus|ribosomal protein import into nucleus	cytoplasm|nuclear pore|nucleolus	GTPase inhibitor activity|protein transporter activity|Ran GTPase binding			breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	27						TAAATGAGATCGTAAATTTTG	0.393													19	46					0	0	1	0	0	T	98654812	C	T	98654812	2	4	81	1	0	0	0	0	0	0	0	1	7840	874	31	1		1	IPO5	13	98654812	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2015	98654812	16515066	10292	13908											
IPO5	3843	broad.mit.edu	37	13	98673358	98673358	+	Missense_Mutation	SNP	C	C	T	rs139976558		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:98673358C>T	ENST00000261574.5	+	28	3412	c.3232C>T	c.(3232-3234)Cgt>Tgt	p.R1078C	IPO5_ENST00000490680.1_Missense_Mutation_p.R1060C|IPO5_ENST00000539640.1_Missense_Mutation_p.R935C	NM_002271.4	NP_002262.3	O00410	IPO5_HUMAN	importin 5	1060					interspecies interaction between organisms|NLS-bearing substrate import into nucleus|ribosomal protein import into nucleus	cytoplasm|nuclear pore|nucleolus	GTPase inhibitor activity|protein transporter activity|Ran GTPase binding			breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	27						TTGTGCCAAACGTCTGGCCAA	0.418													44	104					0	0	1	0	0	T	98673358	C	T	98673358	3	4	81	1	0	0	0	0	1	0	0	0	7840	536	19	1	3334	1	IPO5	13	98673358	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	18546	98673358	16496520	10293	13909											
RNF113B	140432	broad.mit.edu	37	13	98828639	98828639	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:98828639G>A	ENST00000267291.6	-	1	880	c.852C>T	c.(850-852)ttC>ttT	p.F284F	FARP1_ENST00000595437.1_Intron|FARP1_ENST00000376586.2_Intron|FARP1_ENST00000319562.6_Intron|FARP1_ENST00000376581.5_Intron	NM_178861.4	NP_849192.1	Q8IZP6	R113B_HUMAN	ring finger protein 113B	284							nucleic acid binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	18	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.13)			GGGTGGCCCGGAAGTGCTCCA	0.557													43	44					0	0	1	0	0	A	98828639	G	A	98828639	2	1	81	1	0	0	0	0	0	0	0	1	13480	1165	41	2		2	RNF113B	13	98828639	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	155281	98828639	16341239	10294	13910											
RNF113B	140432	broad.mit.edu	37	13	98829411	98829411	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:98829411C>T	ENST00000267291.6	-	1	108	c.80G>A	c.(79-81)cGg>cAg	p.R27Q	FARP1_ENST00000595437.1_Intron|FARP1_ENST00000376586.2_Intron|FARP1_ENST00000319562.6_Intron|FARP1_ENST00000376581.5_Intron	NM_178861.4	NP_849192.1	Q8IZP6	R113B_HUMAN	ring finger protein 113B	27							nucleic acid binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	18	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.13)			AGCCCCTTTCCGTCCAGGCTT	0.647													7	16					0	0	1	0	0	T	98829411	C	T	98829411	3	4	81	1	0	0	0	0	1	0	0	0	13480	652	23	1	896	1	RNF113B	13	98829411	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	772	98829411	16340467	10295	13911											
FARP1	10160	broad.mit.edu	37	13	99030088	99030088	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:99030088C>T	ENST00000376586.2	+	6	748	c.412C>T	c.(412-414)Ctg>Ttg	p.L138L	FARP1_ENST00000595437.1_Silent_p.L138L|FARP1_ENST00000319562.6_Silent_p.L138L			Q9Y4F1	FARP1_HUMAN	FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)	138	FERM.				regulation of Rho protein signal transduction	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity			breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			CCTGTTCGCGCTGCAGGTGAA	0.547													23	24					0	0	1	0	0	T	99030088	C	T	99030088	2	4	81	1	0	0	0	0	0	0	0	1	5709	796	28	2		2	FARP1	13	99030088	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	200677	99030088	16139790	10296	13912											
FARP1	10160	broad.mit.edu	37	13	99047515	99047515	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:99047515G>A	ENST00000376586.2	+	13	1535	c.1199G>A	c.(1198-1200)gGt>gAt	p.G400D	FARP1_ENST00000595437.1_Missense_Mutation_p.G400D|FARP1_ENST00000319562.6_Missense_Mutation_p.G400D			Q9Y4F1	FARP1_HUMAN	FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)	400					regulation of Rho protein signal transduction	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity			breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			TTTGGAGAAGGTGCCGAATCT	0.617													13	38					0	0	1	0	0	A	99047515	G	A	99047515	3	1	81	1	0	0	0	0	1	0	0	0	5709	1261	44	2	1468	2	FARP1	13	99047515	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	17427	99047515	16122363	10297	13913											
FARP1	10160	broad.mit.edu	37	13	99047635	99047635	+	Missense_Mutation	SNP	C	C	T	rs149057508		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:99047635C>T	ENST00000376586.2	+	13	1655	c.1319C>T	c.(1318-1320)gCg>gTg	p.A440V	FARP1_ENST00000595437.1_Missense_Mutation_p.A440V|FARP1_ENST00000319562.6_Missense_Mutation_p.A440V			Q9Y4F1	FARP1_HUMAN	FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)	440					regulation of Rho protein signal transduction	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity			breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			AACAAGCAGGCGGACGGAGCC	0.682													17	18					0	0	1	0	0	T	99047635	C	T	99047635	3	4	81	1	0	0	0	0	1	0	0	0	5709	768	27	1	1588	1	FARP1	13	99047635	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	120	99047635	16122243	10298	13914											
STK24	8428	broad.mit.edu	37	13	99127180	99127180	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:99127180G>A	ENST00000397517.2	-	5	568	c.492C>T	c.(490-492)ggC>ggT	p.G164G	STK24_ENST00000376547.3_Silent_p.G176G|STK24_ENST00000539966.1_Silent_p.G145G	NM_001032296.2	NP_001027467.2	Q9Y6E0	STK24_HUMAN	serine/threonine kinase 24	176	Protein kinase.				cellular component disassembly involved in apoptosis|signal transduction	cytosol|nucleoplasm	ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	17	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			GGCCAGCCACGCCAAAGTCCG	0.597													14	15					0	0	1	0	0	A	99127180	G	A	99127180	2	1	81	1	0	0	0	0	0	0	0	1	15349	1074	38	1		1	STK24	13	99127180	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	79545	99127180	16042698	10299	13915											
DOCK9	23348	broad.mit.edu	37	13	99457448	99457448	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:99457448G>A	ENST00000376460.1	-	52	5652	c.5572C>T	c.(5572-5574)Ctg>Ttg	p.L1858L	DOCK9_ENST00000339416.2_Silent_p.L1845L	NM_001130048.1|NM_015296.2	NP_001123520.1|NP_056111.1	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9	1859	DHR-2.				blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					TTAGAATCCAGATCCTTAGGG	0.413													3	4					0	0	1	0	0	A	99457448	G	A	99457448	2	1	81	1	0	0	0	0	0	0	0	1	4721	933	33	2		2	DOCK9	13	99457448	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	330268	99457448	15712430	10300	13916											
DOCK9	23348	broad.mit.edu	37	13	99479116	99479116	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:99479116G>A	ENST00000376460.1	-	44	5002	c.4922C>T	c.(4921-4923)aCa>aTa	p.T1641I	DOCK9_ENST00000448493.2_3'UTR|DOCK9_ENST00000339416.2_Missense_Mutation_p.T1642I	NM_001130048.1|NM_015296.2	NP_001123520.1|NP_056111.1	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9	1642	DHR-2.				blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CACTAGGGCTGTTACGTGGAC	0.393													9	9					0	0	1	0	0	A	99479116	G	A	99479116	3	1	81	1	0	0	0	0	1	0	0	0	4721	1377	48	2	1332	2	DOCK9	13	99479116	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	21668	99479116	15690762	10301	13917											
DOCK9	23348	broad.mit.edu	37	13	99481710	99481710	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:99481710C>T	ENST00000376460.1	-	43	4827	c.4747G>A	c.(4747-4749)Gcc>Acc	p.A1583T	DOCK9_ENST00000448493.2_3'UTR|DOCK9_ENST00000339416.2_Missense_Mutation_p.A1584T	NM_001130048.1|NM_015296.2	NP_001123520.1|NP_056111.1	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9	1584	DHR-2.				blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					TTCATCTGGGCGGTGGCCATT	0.547													5	12					0	0	1	0	0	T	99481710	C	T	99481710	3	4	81	1	0	0	0	0	1	0	0	0	4721	768	27	1	1511	1	DOCK9	13	99481710	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2594	99481710	15688168	10302	13918											
DOCK9	23348	broad.mit.edu	37	13	99532922	99532922	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:99532922G>A	ENST00000376460.1	-	26	2830	c.2750C>T	c.(2749-2751)gCg>gTg	p.A917V	DOCK9_ENST00000442173.1_Missense_Mutation_p.A917V|DOCK9_ENST00000448493.2_Missense_Mutation_p.A929V|DOCK9_ENST00000339416.2_Missense_Mutation_p.A918V	NM_001130048.1|NM_015296.2	NP_001123520.1|NP_056111.1	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9	918					blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					AGCCTTATACGCGTACTTTGA	0.463													3	12					0	0	1	0	0	A	99532922	G	A	99532922	3	1	81	1	0	0	0	0	1	0	0	0	4721	1087	38	1	3641	1	DOCK9	13	99532922	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	51212	99532922	15636956	10303	13919											
CLYBL	171425	broad.mit.edu	37	13	100515249	100515249	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:100515249C>T	ENST00000376360.1	+	4	470	c.443C>T	c.(442-444)gCa>gTa	p.A148V	CLYBL_ENST00000376355.3_Intron|CLYBL_ENST00000444838.2_Intron|CLYBL_ENST00000376354.1_Intron|CLYBL_ENST00000339105.4_Missense_Mutation_p.A148V			Q8N0X4	CLYBL_HUMAN	citrate lyase beta like	148					cellular aromatic compound metabolic process	citrate lyase complex|mitochondrion	citrate (pro-3S)-lyase activity|metal ion binding			NS(1)|kidney(6)|large_intestine(6)|lung(10)|skin(2)	25	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					TTTTAGTTTGCAGACAAATTT	0.358													4	41					0	0	1	0	0	T	100515249	C	T	100515249	3	4	81	1	0	0	0	0	1	0	0	0	3596	710	25	2	457	2	CLYBL	13	100515249	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	982327	100515249	14654629	10304	13920											
ZIC5	85416	broad.mit.edu	37	13	100617767	100617767	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:100617767T>C	ENST00000267294.4	-	2	2089	c.1856A>G	c.(1855-1857)aAc>aGc	p.N619S		NM_033132.3	NP_149123.2	Q96T25	ZIC5_HUMAN	Zic family member 5	619					cell differentiation	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(1)|lung(2)|prostate(1)|skin(2)	9	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CTCATTGAGGTTGGTCACCTG	0.602													7	65					0	0	1	0	0	C	100617767	T	C	100617767	3	2	81	1	0	0	0	0	1	0	0	0	17740	1725	60	3	139	3	ZIC5	13	100617767	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	102518	100617767	14552111	10305	13921											
ZIC5	85416	broad.mit.edu	37	13	100617819	100617819	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:100617819C>T	ENST00000267294.4	-	2	2037	c.1804G>A	c.(1804-1806)Gtg>Atg	p.V602M		NM_033132.3	NP_149123.2	Q96T25	ZIC5_HUMAN	Zic family member 5	602					cell differentiation	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(1)|lung(2)|prostate(1)|skin(2)	9	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					GGGTCCAGCACAGGGGACAAG	0.617													28	54					0	0	1	0	0	T	100617819	C	T	100617819	3	4	81	1	0	0	0	0	1	0	0	0	17740	478	17	2	191	2	ZIC5	13	100617819	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	52	100617819	14552059	10306	13922											
ZIC2	7546	broad.mit.edu	37	13	100635217	100635217	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:100635217A>G	ENST00000376335.3	+	1	1192	c.899A>G	c.(898-900)cAc>cGc	p.H300R		NM_007129.3	NP_009060.2	O95409	ZIC2_HUMAN	Zic family member 2	300					brain development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|visual perception	cytoplasm|nucleus	chromatin DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(2)|liver(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CAGAGCAACCACGTCTGCTTC	0.587													34	43					0	0	1	0	0	G	100635217	A	G	100635217	3	3	81	1	0	0	0	0	1	0	0	0	17737	159	6	3	901	3	ZIC2	13	100635217	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	17398	100635217	14534661	10307	13923											
PCCA	5095	broad.mit.edu	37	13	101182405	101182405	+	Silent	SNP	C	C	T	rs150352833	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:101182405C>T	ENST00000376285.1	+	24	2210	c.2172C>T	c.(2170-2172)ctC>ctT	p.L724L	PCCA_ENST00000376286.4_Silent_p.L698L|PCCA_ENST00000376279.3_Silent_p.L677L	NM_000282.3	NP_000273.2	P05165	PCCA_HUMAN	propionyl CoA carboxylase, alpha polypeptide	724	Biotinyl-binding.				fatty acid beta-oxidation	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|enzyme binding|metal ion binding|propionyl-CoA carboxylase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|prostate(1)|skin(2)	26	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Biotin(DB00121)	GGGATCTGCTCGTGGAGCTGG	0.408													9	30					0	0	1	0	0	T	101182405	C	T	101182405	2	4	81	1	0	0	0	0	0	0	0	1	11551	871	31	1		1	PCCA	13	101182405	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	547188	101182405	13987473	10308	13924											
NALCN	259232	broad.mit.edu	37	13	101735165	101735165	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:101735165G>A	ENST00000251127.6	-	33	3841	c.3760C>T	c.(3760-3762)Ctg>Ttg	p.L1254L		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	1254						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					AGTACCTCCAGAACAAAGATG	0.493													8	54					0	0	1	0	0	A	101735165	G	A	101735165	2	1	81	1	0	0	0	0	0	0	0	1	10196	933	33	2		2	NALCN	13	101735165	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	552760	101735165	13434713	10309	13925											
NALCN	259232	broad.mit.edu	37	13	101763479	101763479	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:101763479C>T	ENST00000251127.6	-	19	2372	c.2291G>A	c.(2290-2292)cGc>cAc	p.R764H		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	764						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TATTTACCTGCGCTCTTGGCG	0.552													67	101					0	0	1	0	0	T	101763479	C	T	101763479	3	4	81	1	0	0	0	0	1	0	0	0	10196	768	27	1	3029	1	NALCN	13	101763479	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	28314	101763479	13406399	10310	13926											
TPP2	7174	broad.mit.edu	37	13	103268766	103268766	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:103268766C>A	ENST00000376052.3	+	4	427	c.411C>A	c.(409-411)atC>atA	p.I137I	TPP2_ENST00000376065.4_Silent_p.I137I			P29144	TPP2_HUMAN	tripeptidyl peptidase II	137					proteolysis	cytoplasm|nucleus	aminopeptidase activity|serine-type endopeptidase activity|tripeptidyl-peptidase activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	52	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					AGGAAAAAATCTGGGACCCTG	0.423													12	52					1.3612e-06	1.56842e-06	1	1	0	A	103268766	C	A	103268766	2	1	81	1	0	0	0	0	0	0	0	1	16473	903	32	4		4	TPP2	13	103268766	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1505287	103268766	11901112	10311	13927											
TPP2	7174	broad.mit.edu	37	13	103287939	103287939	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:103287939C>T	ENST00000376052.3	+	12	1412	c.1396C>T	c.(1396-1398)Ctg>Ttg	p.L466L	TPP2_ENST00000376065.4_Silent_p.L466L			P29144	TPP2_HUMAN	tripeptidyl peptidase II	466					proteolysis	cytoplasm|nucleus	aminopeptidase activity|serine-type endopeptidase activity|tripeptidyl-peptidase activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	52	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					AATTTTAGGTCTGAAAGCTAA	0.403													21	34					0	0	1	0	0	T	103287939	C	T	103287939	2	4	81	1	0	0	0	0	0	0	0	1	16473	912	32	2		2	TPP2	13	103287939	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	19173	103287939	11881939	10312	13928											
BIVM	54841	broad.mit.edu	37	13	103491950	103491950	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:103491950C>T	ENST00000257336.1	+	11	1926	c.1247C>T	c.(1246-1248)gCa>gTa	p.A416V	BIVM_ENST00000419638.1_3'UTR|BIVM_ENST00000448849.2_Missense_Mutation_p.A194V|BIVM-ERCC5_ENST00000602836.1_Silent_p.S387S	NM_017693.3	NP_060163.2			basic, immunoglobulin-like variable motif containing											endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|skin(2)|urinary_tract(1)	25	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					TGCATCATAGCATTCCAGAGA	0.393													11	85					0	0	1	0	0	T	103491950	C	T	103491950	3	4	81	1	0	0	0	0	1	0	0	0	1440	710	25	2	1302	2	BIVM	13	103491950	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	204011	103491950	11677928	10313	13929											
SLC10A2	6555	broad.mit.edu	37	13	103710636	103710636	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:103710636G>A	ENST00000245312.3	-	2	1070	c.474C>T	c.(472-474)atC>atT	p.I158I		NM_000452.2	NP_000443	Q12908	NTCP2_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 2	158					bile acid metabolic process|organic anion transport	integral to plasma membrane	bile acid:sodium symporter activity			breast(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					AGGGAATTACGATGCTCCCAG	0.502													18	43					0	0	1	0	0	A	103710636	G	A	103710636	2	1	81	1	0	0	0	0	0	0	0	1	14429	1048	37	1		1	SLC10A2	13	103710636	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	218686	103710636	11459242	10314	13930											
SLC10A2	6555	broad.mit.edu	37	13	103718407	103718407	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:103718407G>A	ENST00000245312.3	-	1	789	c.193C>T	c.(193-195)Ccg>Tcg	p.P65S		NM_000452.2	NP_000443	Q12908	NTCP2_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 2	65					bile acid metabolic process|organic anion transport	integral to plasma membrane	bile acid:sodium symporter activity			breast(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					ATGCCCCACGGCCGCTTTATG	0.532													34	56					0	0	1	0	0	A	103718407	G	A	103718407	3	1	81	1	0	0	0	0	1	0	0	0	14429	1203	42	2	877	2	SLC10A2	13	103718407	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	7771	103718407	11451471	10315	13931											
ARGLU1	55082	broad.mit.edu	37	13	107211822	107211822	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:107211822C>T	ENST00000375926.1	-	2	303	c.80G>A	c.(79-81)aGc>aAc	p.S27N	ARGLU1_ENST00000400198.3_Silent_p.E177E			Q9NWB6	ARGL1_HUMAN	arginine and glutamate rich 1	70	Arg-rich.									large_intestine(1)|lung(5)|pancreas(1)	7	Lung NSC(43;0.015)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169)					GTCTCTGTCGCTCGAGTTCTT	0.483													34	43					0	0	1	0	0	T	107211822	C	T	107211822	3	4	81	1	0	0	0	0	1	0	0	0	857	796	28	2	302	2	ARGLU1	13	107211822	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3493415	107211822	7958056	10316	13932											
LIG4	3981	broad.mit.edu	37	13	108862336	108862336	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:108862336C>A	ENST00000356922.4	-	2	1553	c.1281G>T	c.(1279-1281)gaG>gaT	p.E427D	LIG4_ENST00000442234.1_Missense_Mutation_p.E427D|LIG4_ENST00000405925.1_Missense_Mutation_p.E427D	NM_002312.3|NM_206937.1	NP_002303.2|NP_996820.1	P49917	DNLI4_HUMAN	ligase IV, DNA, ATP-dependent	427					cell cycle|cell division|cell proliferation|central nervous system development|chromosome organization|DNA ligation involved in DNA recombination|DNA ligation involved in DNA repair|DNA replication|double-strand break repair via nonhomologous end joining|in utero embryonic development|initiation of viral infection|isotype switching|negative regulation of neuron apoptosis|neuron apoptosis|nucleotide-excision repair, DNA gap filling|positive regulation of fibroblast proliferation|positive regulation of neurogenesis|pro-B cell differentiation|provirus integration|response to gamma radiation|response to X-ray|single strand break repair|somatic stem cell maintenance|T cell differentiation in thymus|T cell receptor V(D)J recombination	condensed chromosome|cytoplasm|DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|focal adhesion|nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding|protein C-terminus binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)					CCATAATTCCCTCTTCTCTTT	0.363								Non-homologous end-joining					19	173					3.57192e-18	4.62772e-18	1	1	0	A	108862336	C	A	108862336	3	1	81	1	0	0	0	0	1	0	0	0	8823	680	24	4	1458	4	LIG4	13	108862336	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1650514	108862336	6307542	10317	13933											
IRS2	8660	broad.mit.edu	37	13	110434638	110434638	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:110434638C>T	ENST00000375856.3	-	1	4277	c.3763G>A	c.(3763-3765)Gcc>Acc	p.A1255T		NM_003749.2	NP_003740.2	Q9Y4H2	IRS2_HUMAN	insulin receptor substrate 2	1255					fibroblast growth factor receptor signaling pathway|glucose metabolic process|insulin receptor signaling pathway|lipid homeostasis|negative regulation of B cell apoptosis|negative regulation of kinase activity|negative regulation of plasma membrane long-chain fatty acid transport|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of B cell proliferation|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|response to glucose stimulus	cytosol|plasma membrane	insulin receptor binding|signal transducer activity			kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	19	all_cancers(4;7.57e-15)|all_epithelial(4;5.91e-09)|all_lung(23;7.64e-07)|Lung NSC(43;0.000183)|Colorectal(4;0.00159)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0155)	Breast(118;0.159)	all cancers(43;0.00815)|BRCA - Breast invasive adenocarcinoma(86;0.11)|Epithelial(84;0.127)|GBM - Glioblastoma multiforme(44;0.147)			ACGTCGATGGCGATGTAGTTG	0.711													7	8					0	0	1	0	0	T	110434638	C	T	110434638	3	4	81	1	0	0	0	0	1	0	0	0	7885	768	27	1	261	1	IRS2	13	110434638	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1572302	110434638	4735240	10318	13934											
COL4A1	1282	broad.mit.edu	37	13	110861234	110861234	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:110861234G>A	ENST00000375820.4	-	12	776	c.655C>T	c.(655-657)Caa>Taa	p.Q219*	COL4A1_ENST00000543140.1_Nonsense_Mutation_p.Q219*	NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	219	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			AAGCCCATTTGTCCCTGTGGA	0.388													10	135					0	0	1	0	0	A	110861234	G	A	110861234	4	1	81	1	0	0	0	0	0	1	0	0	3712	1386	48	2	4518	2	COL4A1	13	110861234	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	426596	110861234	4308644	10319	13935											
COL4A2	1284	broad.mit.edu	37	13	111109744	111109744	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:111109744C>T	ENST00000360467.5	+	21	1700	c.1394C>T	c.(1393-1395)cCc>cTc	p.P465L	COL4A2-AS2_ENST00000458403.2_RNA	NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	465	Triple-helical region.				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			CCTGGGCTTCCCGGCTCCCCT	0.602													7	16					0	0	1	0	0	T	111109744	C	T	111109744	3	4	81	1	0	0	0	0	1	0	0	0	3713	623	22	2	1472	2	COL4A2	13	111109744	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	248510	111109744	4060134	10320	13936											
COL4A2	1284	broad.mit.edu	37	13	111118375	111118375	+	Silent	SNP	C	C	T	rs148709279	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:111118375C>T	ENST00000360467.5	+	26	2310	c.2004C>T	c.(2002-2004)gcC>gcT	p.A668A		NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	668	Triple-helical region.				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			TGAAAAGGGCCGTTGGAGGTG	0.512													24	30					0	0	1	0	0	T	111118375	C	T	111118375	2	4	81	1	0	0	0	0	0	0	0	1	3713	639	23	1		1	COL4A2	13	111118375	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	8631	111118375	4051503	10321	13937											
COL4A2	1284	broad.mit.edu	37	13	111134925	111134925	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:111134925G>A	ENST00000360467.5	+	32	3127	c.2821G>A	c.(2821-2823)Ggg>Agg	p.G941R		NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	941	Triple-helical region.				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			AGGGAGACCCGGGTTTCCAGG	0.517													39	68					0	0	1	0	0	A	111134925	G	A	111134925	3	1	81	1	0	0	0	0	1	0	0	0	3713	1116	39	1	2943	1	COL4A2	13	111134925	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	16550	111134925	4034953	10322	13938											
RAB20	55647	broad.mit.edu	37	13	111176381	111176381	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:111176381C>T	ENST00000267328.3	-	2	549	c.336G>A	c.(334-336)ggG>ggA	p.G112G		NM_017817.1	NP_060287.1	Q9NX57	RAB20_HUMAN	RAB20, member RAS oncogene family	112					protein transport|small GTPase mediated signal transduction	Golgi apparatus	GTP binding			endometrium(2)|large_intestine(2)|lung(3)	7	all_cancers(4;1.54e-11)|all_epithelial(4;1.22e-06)|all_lung(23;1e-05)|Lung NSC(43;0.000453)|Colorectal(4;0.00323)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.197)			CCACTTTGTTCCCCACGATGG	0.612													21	35					0	0	1	0	0	T	111176381	C	T	111176381	2	4	81	1	0	0	0	0	0	0	0	1	12959	842	30	2		2	RAB20	13	111176381	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	41456	111176381	3993497	10323	13939											
ING1	3621	broad.mit.edu	37	13	111366570	111366570	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:111366570C>T	ENST00000333219.7	+	1	946	c.74C>T	c.(73-75)tCc>tTc	p.S25F	ING1_ENST00000375775.3_Intron|ING1_ENST00000338450.7_Intron	NM_001267728.1|NM_198219.2	NP_001254657.1|NP_937862.1	Q9UK53	ING1_HUMAN	inhibitor of growth family, member 1	0					cell cycle|negative regulation of cell growth|negative regulation of cell proliferation	nucleus	zinc ion binding			endometrium(4)|large_intestine(6)|lung(1)|ovary(1)	12	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.188)			TCCATCGAGTCCCTGCCTTTC	0.622													4	10					0	0	1	0	0	T	111366570	C	T	111366570	3	4	81	1	0	0	0	0	1	0	0	0	7779	855	30	2	84	2	ING1	13	111366570	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	190189	111366570	3803308	10324	13940											
ARHGEF7	8874	broad.mit.edu	37	13	111932994	111932994	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:111932994C>A	ENST00000375741.2	+	16	2008	c.1758C>A	c.(1756-1758)acC>acA	p.T586T	ARHGEF7_ENST00000317133.5_Silent_p.T565T|ARHGEF7_ENST00000375723.1_Silent_p.T408T|ARHGEF7_ENST00000375736.4_Silent_p.T408T|ARHGEF7_ENST00000426073.2_Silent_p.T408T|ARHGEF7_ENST00000544132.1_3'UTR|ARHGEF7_ENST00000375739.2_Silent_p.T536T|ARHGEF7_ENST00000478679.1_Silent_p.T330T|ARHGEF7_ENST00000218789.5_Silent_p.T408T|ARHGEF7_ENST00000370623.3_Silent_p.T493T|ARHGEF7_ENST00000375737.5_Silent_p.T483T	NM_001113511.1|NM_145735.2	NP_001106983.1|NP_663788.1	Q14155	ARHG7_HUMAN	Rho guanine nucleotide exchange factor (GEF) 7	586					apoptosis|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	protein binding|Rho guanyl-nucleotide exchange factor activity			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	41	all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.188)			GAAACCCCACCATAAAGCCTC	0.537													4	68					0.00909568	0.00944708	1	1	0	A	111932994	C	A	111932994	2	1	81	1	0	0	0	0	0	0	0	1	908	581	21	5		5	ARHGEF7	13	111932994	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	566424	111932994	3236884	10325	13941											
TUBGCP3	10426	broad.mit.edu	37	13	113153377	113153378	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:113153377_113153378insT	ENST00000261965.3	-	20	2615_2616	c.2429_2430insA	c.(2428-2430)aagfs	p.K810fs	TUBGCP3_ENST00000375669.3_Frame_Shift_Ins_p.K810fs	NM_006322.4	NP_006313.1	Q96CW5	GCP3_HUMAN	tubulin, gamma complex associated protein 3	810					G2/M transition of mitotic cell cycle|microtubule nucleation|single fertilization	centriole|cytosol|polar microtubule	gamma-tubulin binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|urinary_tract(1)	25	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)					CACGCTGTTTCTTTTTCTCTTC	0.356													27	38	---	---	---	---						T	113153378	-	T	113153377	7	5	81	1	0	1	1	0	0	0	0	0	16829	912	32	0	305	0	TUBGCP3	13	113153377	Frame_Shift_Ins	INS	-	TCGA-DU-6392-01A-11D-1705-08	1220383	113153377	2016501	10326	13942											
ATP11A	23250	broad.mit.edu	37	13	113465017	113465017	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:113465017C>T	ENST00000487903.1	+	5	506	c.418C>T	c.(418-420)Cgg>Tgg	p.R140W	ATP11A_ENST00000283558.8_Missense_Mutation_p.R140W|ATP11A_ENST00000375645.3_Missense_Mutation_p.R140W|ATP11A_ENST00000375630.2_Missense_Mutation_p.R140W			P98196	AT11A_HUMAN	ATPase, class VI, type 11A	140					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)				CAAGCTCGTTCGGAAACAAAG	0.443													18	40					0	0	1	0	0	T	113465017	C	T	113465017	3	4	81	1	0	0	0	0	1	0	0	0	1118	875	31	1	436	1	ATP11A	13	113465017	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	311640	113465017	1704861	10327	13943											
ATP11A	23250	broad.mit.edu	37	13	113514618	113514618	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:113514618G>A	ENST00000487903.1	+	24	2833	c.2745G>A	c.(2743-2745)gcG>gcA	p.A915A	ATP11A_ENST00000283558.8_Silent_p.A915A|ATP11A_ENST00000375645.3_Silent_p.A915A|ATP11A_ENST00000375630.2_Silent_p.A915A			P98196	AT11A_HUMAN	ATPase, class VI, type 11A	915					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)				ACGACACCGCGTATCTGACCC	0.453													13	82					0	0	1	0	0	A	113514618	G	A	113514618	2	1	81	1	0	0	0	0	0	0	0	1	1118	1132	40	1		1	ATP11A	13	113514618	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	49601	113514618	1655260	10328	13944											
MCF2L	23263	broad.mit.edu	37	13	113699134	113699134	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:113699134C>T	ENST00000397021.1	+	1	159	c.96C>T	c.(94-96)agC>agT	p.S32S	MCF2L_ENST00000535094.2_Intron|MCF2L_ENST00000375597.4_Intron|MCF2L_ENST00000423482.2_Intron|MCF2L_ENST00000375604.2_Intron|MCF2L_ENST00000434480.2_Intron|MCF2L_ENST00000442652.2_Intron|MCF2L_ENST00000375608.3_Intron|MCF2L_ENST00000421756.1_Intron|MCF2L_ENST00000397030.1_Intron|MCF2L_ENST00000375601.3_Intron|MCF2L_ENST00000480321.1_3'UTR			O15068	MCF2L_HUMAN	MCF.2 cell line derived transforming sequence-like	0					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	Rho guanyl-nucleotide exchange factor activity			kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)				AGCACCGTAGCCATGCCACCA	0.557													10	28					0	0	1	0	0	T	113699134	C	T	113699134	2	4	81	1	0	0	0	0	0	0	0	1	9429	754	26	2		2	MCF2L	13	113699134	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	184516	113699134	1470744	10329	13945											
MCF2L	23263	broad.mit.edu	37	13	113729378	113729378	+	Missense_Mutation	SNP	G	G	A	rs145260894		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:113729378G>A	ENST00000397030.1	+	11	1319	c.1282G>A	c.(1282-1284)Gcg>Acg	p.A428T	MCF2L_ENST00000535094.2_Missense_Mutation_p.A395T|MCF2L_ENST00000375597.4_Missense_Mutation_p.A393T|MCF2L_ENST00000423482.2_Missense_Mutation_p.A393T|MCF2L_ENST00000375604.2_Missense_Mutation_p.A452T|MCF2L_ENST00000434480.2_Missense_Mutation_p.A401T|MCF2L_ENST00000442652.2_Missense_Mutation_p.A425T|MCF2L_ENST00000375608.3_Missense_Mutation_p.A425T|MCF2L_ENST00000421756.1_Missense_Mutation_p.A399T|MCF2L_ENST00000375601.3_Missense_Mutation_p.A399T			O15068	MCF2L_HUMAN	MCF.2 cell line derived transforming sequence-like	425					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	Rho guanyl-nucleotide exchange factor activity			kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)				CAAGCACTACGCGGTAGACTC	0.657													34	65					0	0	1	0	0	A	113729378	G	A	113729378	3	1	81	1	0	0	0	0	1	0	0	0	9429	1087	38	1	1491	1	MCF2L	13	113729378	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	30244	113729378	1440500	10330	13946											
MCF2L	23263	broad.mit.edu	37	13	113729440	113729440	+	Silent	SNP	G	G	A	rs145592732	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:113729440G>A	ENST00000397030.1	+	11	1381	c.1344G>A	c.(1342-1344)gcG>gcA	p.A448A	MCF2L_ENST00000535094.2_Silent_p.A415A|MCF2L_ENST00000375597.4_Silent_p.A413A|MCF2L_ENST00000423482.2_Silent_p.A413A|MCF2L_ENST00000375604.2_Silent_p.A472A|MCF2L_ENST00000434480.2_Silent_p.A421A|MCF2L_ENST00000442652.2_Silent_p.A445A|MCF2L_ENST00000375608.3_Silent_p.A445A|MCF2L_ENST00000421756.1_Silent_p.A419A|MCF2L_ENST00000375601.3_Silent_p.A419A			O15068	MCF2L_HUMAN	MCF.2 cell line derived transforming sequence-like	445					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	Rho guanyl-nucleotide exchange factor activity			kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)				AGTTCTCTGCGGAGATCGCAA	0.667													21	26					0	0	1	0	0	A	113729440	G	A	113729440	2	1	81	1	0	0	0	0	0	0	0	1	9429	1103	39	1		1	MCF2L	13	113729440	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	62	113729440	1440438	10331	13947											
MCF2L	23263	broad.mit.edu	37	13	113743999	113743999	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:113743999C>T	ENST00000397030.1	+	26	3046	c.3009C>T	c.(3007-3009)taC>taT	p.Y1003Y	MCF2L_ENST00000535094.2_Silent_p.Y970Y|MCF2L_ENST00000375597.4_Silent_p.Y968Y|MCF2L_ENST00000423482.2_Silent_p.Y968Y|MCF2L_ENST00000375604.2_Silent_p.Y1027Y|MCF2L_ENST00000434480.2_Silent_p.Y976Y|MCF2L_ENST00000442652.2_Silent_p.Y1000Y|MCF2L_ENST00000375608.3_Silent_p.Y1000Y|MCF2L_ENST00000421756.1_Silent_p.Y974Y|MCF2L_ENST00000375601.3_Silent_p.Y974Y			O15068	MCF2L_HUMAN	MCF.2 cell line derived transforming sequence-like	1000					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	Rho guanyl-nucleotide exchange factor activity			kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)				TGGAGGGATACGTCAGCTCAG	0.547													5	26					0	0	1	0	0	T	113743999	C	T	113743999	2	4	81	1	0	0	0	0	0	0	0	1	9429	547	19	1		1	MCF2L	13	113743999	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	14559	113743999	1425879	10332	13948											
MCF2L	23263	broad.mit.edu	37	13	113751159	113751159	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:113751159G>A	ENST00000375601.3	+	30	3703	c.3376G>A	c.(3376-3378)Gac>Aac	p.D1126N	MCF2L_ENST00000535094.2_Missense_Mutation_p.D1122N|MCF2L_ENST00000423482.2_Missense_Mutation_p.D1120N|MCF2L_ENST00000375604.2_Missense_Mutation_p.D1179N|MCF2L_ENST00000375608.3_3'UTR|MCF2L_ENST00000397030.1_3'UTR			O15068	MCF2L_HUMAN	MCF.2 cell line derived transforming sequence-like	0					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	Rho guanyl-nucleotide exchange factor activity			kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)				CCCCTTCTCCGACCTGCAGGG	0.771													4	4					0	0	1	0	0	A	113751159	G	A	113751159	3	1	81	1	0	0	0	0	1	0	0	0	9429	1058	37	1	3748	1	MCF2L	13	113751159	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	7160	113751159	1418719	10333	13949											
F7	2155	broad.mit.edu	37	13	113772771	113772771	+	Missense_Mutation	SNP	C	C	T	rs149779477		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:113772771C>T	ENST00000375581.3	+	9	885	c.850C>T	c.(850-852)Cgg>Tgg	p.R284W	F7_ENST00000346342.3_Missense_Mutation_p.R262W|F7_ENST00000541084.1_Missense_Mutation_p.R215W	NM_000131.4	NP_000122.1	P08709	FA7_HUMAN	coagulation factor VII (serum prothrombin conversion accelerator)	284	Peptidase S1.				anti-apoptosis|blood coagulation, extrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of leukocyte chemotaxis|positive regulation of platelet-derived growth factor receptor signaling pathway|positive regulation of positive chemotaxis|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|Golgi lumen|plasma membrane	calcium ion binding|glycoprotein binding|serine-type endopeptidase activity			large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0364)|all_epithelial(44;0.0393)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0737)|Epithelial(84;0.213)|BRCA - Breast invasive adenocarcinoma(86;0.218)		Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Menadione(DB00170)	GCAGAGCCGGCGGGTGGCGCA	0.682													26	36					0	0	1	0	0	T	113772771	C	T	113772771	3	4	81	1	0	0	0	0	1	0	0	0	5377	759	27	1	884	1	F7	13	113772771	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	21612	113772771	1397107	10334	13950											
F7	2155	broad.mit.edu	37	13	113772785	113772785	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:113772785C>A	ENST00000375581.3	+	9	899	c.864C>A	c.(862-864)gtC>gtA	p.V288V	F7_ENST00000346342.3_Silent_p.V266V|F7_ENST00000541084.1_Silent_p.V219V	NM_000131.4	NP_000122.1	P08709	FA7_HUMAN	coagulation factor VII (serum prothrombin conversion accelerator)	288	Peptidase S1.				anti-apoptosis|blood coagulation, extrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of leukocyte chemotaxis|positive regulation of platelet-derived growth factor receptor signaling pathway|positive regulation of positive chemotaxis|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|Golgi lumen|plasma membrane	calcium ion binding|glycoprotein binding|serine-type endopeptidase activity			large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0364)|all_epithelial(44;0.0393)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0737)|Epithelial(84;0.213)|BRCA - Breast invasive adenocarcinoma(86;0.218)		Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Menadione(DB00170)	TGGCGCAGGTCATCATCCCCA	0.677													20	38					2.21704e-12	2.77053e-12	1	1	0	A	113772785	C	A	113772785	2	1	81	1	0	0	0	0	0	0	0	1	5377	813	29	5		5	F7	13	113772785	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	14	113772785	1397093	10335	13951											
F10	2159	broad.mit.edu	37	13	113803537	113803537	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:113803537G>A	ENST00000375559.3	+	8	1211	c.1173G>A	c.(1171-1173)aaG>aaA	p.K391K	F10_ENST00000409306.1_3'UTR|F10_ENST00000375551.3_3'UTR	NM_000504.3	NP_000495.1	P00742	FA10_HUMAN	coagulation factor X	391	Peptidase S1.				blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of cell migration|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen	calcium ion binding|phospholipid binding|protein binding|serine-type endopeptidase activity			endometrium(2)|large_intestine(4)|lung(10)|pancreas(1)|stomach(1)	18	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.113)|all_lung(25;0.0364)|all_epithelial(44;0.0373)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0805)|Epithelial(84;0.231)		Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Enoxaparin(DB01225)|Heparin(DB01109)|Menadione(DB00170)|Reteplase(DB00015)|Tenecteplase(DB00031)	ACAGCTGCAAGCTGTCCAGCA	0.647													19	24					0	0	1	0	0	A	113803537	G	A	113803537	2	1	81	1	0	0	0	0	0	0	0	1	5364	962	34	2		2	F10	13	113803537	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	30752	113803537	1366341	10336	13952											
LAMP1	3916	broad.mit.edu	37	13	113960824	113960824	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:113960824C>T	ENST00000332556.4	+	2	280	c.86C>T	c.(85-87)gCa>gTa	p.A29V	LAMP1_ENST00000397181.3_Missense_Mutation_p.A29V	NM_005561.3	NP_005552.3	P11279	LAMP1_HUMAN	lysosomal-associated membrane protein 1	29	First lumenal domain.					endosome membrane|integral to plasma membrane|lysosomal membrane|membrane fraction				NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(2)|prostate(1)|skin(1)|stomach(2)	16	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.025)|GBM - Glioblastoma multiforme(44;0.206)|Epithelial(84;0.246)			GCGTCAGCAGCAATGTTTATG	0.488													45	61					0	0	1	0	0	T	113960824	C	T	113960824	3	4	81	1	0	0	0	0	1	0	0	0	8656	710	25	2	92	2	LAMP1	13	113960824	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	157287	113960824	1209054	10337	13953											
ADPRHL1	113622	broad.mit.edu	37	13	114078566	114078566	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:114078566C>T	ENST00000356501.4	-	6	802	c.627G>A	c.(625-627)tgG>tgA	p.W209*	ADPRHL1_ENST00000375418.3_Nonsense_Mutation_p.W291*	NM_199162.1	NP_954631.1	Q8NDY3	ARHL1_HUMAN	ADP-ribosylhydrolase like 1	291					protein de-ADP-ribosylation		ADP-ribosylarginine hydrolase activity|magnesium ion binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	11	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0395)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.0195)|GBM - Glioblastoma multiforme(44;0.116)			ACAGCTCAGTCCAGCTGTTTC	0.587													9	20					0	0	1	0	0	T	114078566	C	T	114078566	4	4	81	1	0	0	0	0	0	1	0	0	331	856	30	2	199	2	ADPRHL1	13	114078566	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	117742	114078566	1091312	10338	13954											
ADPRHL1	113622	broad.mit.edu	37	13	114107713	114107713	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:114107713C>T	ENST00000375418.3	-	1	126	c.40G>A	c.(40-42)Ggc>Agc	p.G14S		NM_138430.3	NP_612439.2	Q8NDY3	ARHL1_HUMAN	ADP-ribosylhydrolase like 1	14					protein de-ADP-ribosylation		ADP-ribosylarginine hydrolase activity|magnesium ion binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	11	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0395)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.0195)|GBM - Glioblastoma multiforme(44;0.116)			AGAGCATCGCCGACGCTCCCC	0.587													12	22					0	0	1	0	0	T	114107713	C	T	114107713	3	4	81	1	0	0	0	0	1	0	0	0	331	652	23	1	1052	1	ADPRHL1	13	114107713	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	29147	114107713	1062165	10339	13955											
DCUN1D2	55208	broad.mit.edu	37	13	114135036	114135036	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:114135036A>G	ENST00000478244.1	-	3	525	c.243T>C	c.(241-243)atT>atC	p.I81I	DCUN1D2_ENST00000332592.3_Intron|DCUN1D2_ENST00000375399.2_Silent_p.I81I|DCUN1D2_ENST00000460318.1_5'UTR	NM_001014283.1	NP_001014305.1	Q6PH85	DCNL2_HUMAN	DCN1, defective in cullin neddylation 1, domain containing 2	81	DCUN1.									breast(1)|endometrium(1)|large_intestine(1)|lung(3)|stomach(1)	7	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0395)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.029)|GBM - Glioblastoma multiforme(44;0.234)			CATCGACTCCAATTTTGTTTT	0.393													9	80					0	0	1	0	0	G	114135036	A	G	114135036	2	3	81	1	0	0	0	0	0	0	0	1	4337	126	5	3		3	DCUN1D2	13	114135036	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	27323	114135036	1034842	10340	13956											
TMCO3	55002	broad.mit.edu	37	13	114149983	114149983	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:114149983G>A	ENST00000434316.2	+	2	446	c.87G>A	c.(85-87)gcG>gcA	p.A29A	TMCO3_ENST00000375391.1_Silent_p.A29A|TMCO3_ENST00000474393.1_3'UTR	NM_017905.4	NP_060375.4	Q6UWJ1	TMCO3_HUMAN	transmembrane and coiled-coil domains 3	29						integral to membrane	solute:hydrogen antiporter activity			NS(1)|endometrium(4)|large_intestine(9)|liver(1)|lung(8)|prostate(1)|stomach(1)	25	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0145)|all_epithelial(44;0.00286)|all_lung(25;0.0273)|Breast(118;0.0411)|Lung NSC(25;0.0983)	all cancers(43;0.0317)			AGGAGGTGGCGCAGCGTGTGA	0.647													12	22					0	0	1	0	0	A	114149983	G	A	114149983	2	1	81	1	0	0	0	0	0	0	0	1	16057	1074	38	1		1	TMCO3	13	114149983	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	14947	114149983	1019895	10341	13957											
TMCO3	55002	broad.mit.edu	37	13	114193804	114193804	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:114193804G>A	ENST00000434316.2	+	10	2031	c.1672G>A	c.(1672-1674)Gtt>Att	p.V558I	TMCO3_ENST00000375391.1_Intron	NM_017905.4	NP_060375.4	Q6UWJ1	TMCO3_HUMAN	transmembrane and coiled-coil domains 3	558						integral to membrane	solute:hydrogen antiporter activity			NS(1)|endometrium(4)|large_intestine(9)|liver(1)|lung(8)|prostate(1)|stomach(1)	25	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0145)|all_epithelial(44;0.00286)|all_lung(25;0.0273)|Breast(118;0.0411)|Lung NSC(25;0.0983)	all cancers(43;0.0317)			CCTGGCCATCGTTTTCTTCGC	0.502													10	24					0	0	1	0	0	A	114193804	G	A	114193804	3	1	81	1	0	0	0	0	1	0	0	0	16057	1145	40	1	1706	1	TMCO3	13	114193804	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	43821	114193804	976074	10342	13958											
TFDP1	7027	broad.mit.edu	37	13	114290930	114290930	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:114290930C>T	ENST00000375370.5	+	10	1133	c.921C>T	c.(919-921)tgC>tgT	p.C307C	TFDP1_ENST00000544902.1_Silent_p.C212C|TFDP1_ENST00000538138.1_Silent_p.C212C	NM_007111.4	NP_009042.1	Q14186	TFDP1_HUMAN	transcription factor Dp-1	307	DCB2.|Enhances binding of RB protein to E2F.				cell proliferation|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|regulation of transcription from RNA polymerase II promoter	transcription factor complex	DNA binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.132)|all_epithelial(44;0.0731)|all_lung(25;0.149)|Breast(118;0.153)	all cancers(43;0.0576)			GCATGGCTTGCGGGCTGGAGT	0.517										TSP Lung(29;0.18)			24	26					0	0	1	0	0	T	114290930	C	T	114290930	2	4	81	1	0	0	0	0	0	0	0	1	15857	776	27	1		1	TFDP1	13	114290930	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	97126	114290930	878948	10343	13959											
ATP4B	496	broad.mit.edu	37	13	114307678	114307678	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:114307678T>C	ENST00000335288.4	-	3	354	c.313A>G	c.(313-315)Acc>Gcc	p.T105A		NM_000705.3	NP_000696.1	P51164	ATP4B_HUMAN	ATPase, H+/K+ exchanging, beta polypeptide	105					ATP biosynthetic process	integral to membrane|plasma membrane	hydrogen:potassium-exchanging ATPase activity|sodium:potassium-exchanging ATPase activity			breast(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.00696)|all_epithelial(44;0.00347)|all_lung(25;0.0221)|Breast(118;0.0411)|Lung NSC(25;0.0839)	all cancers(43;0.171)		Rabeprazole(DB01129)	TCTGCCCAGGTTCTGTTATCA	0.557													15	48					0	0	1	0	0	C	114307678	T	C	114307678	3	2	81	1	0	0	0	0	1	0	0	0	1145	1725	60	3	582	3	ATP4B	13	114307678	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	16748	114307678	862200	10344	13960											
GRK1	6011	broad.mit.edu	37	13	114325904	114325904	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:114325904G>A	ENST00000335678.6	+	3	1150	c.918G>A	c.(916-918)gaG>gaA	p.E306E		NM_002929.2	NP_002920.1	Q15835	RK_HUMAN	G protein-coupled receptor kinase 1	306	Protein kinase.				regulation of G-protein coupled receptor protein signaling pathway|rhodopsin mediated phototransduction|rhodopsin mediated signaling pathway	membrane	ATP binding|G-protein coupled receptor kinase activity|rhodopsin kinase activity|signal transducer activity			ovary(2)	2	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.00696)|all_epithelial(44;0.00347)|all_lung(25;0.0221)|Breast(118;0.0411)|Lung NSC(25;0.0839)	all cancers(43;0.234)			GCGGCCTGGAGCACCTGCACC	0.602													10	15					0	0	1	0	0	A	114325904	G	A	114325904	2	1	81	1	0	0	0	0	0	0	0	1	6831	962	34	2		2	GRK1	13	114325904	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	18226	114325904	843974	10345	13961											
GRK1	6011	broad.mit.edu	37	13	114325951	114325951	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:114325951A>G	ENST00000335678.6	+	3	1197	c.965A>G	c.(964-966)aAc>aGc	p.N322S		NM_002929.2	NP_002920.1	Q15835	RK_HUMAN	G protein-coupled receptor kinase 1	322	Protein kinase.				regulation of G-protein coupled receptor protein signaling pathway|rhodopsin mediated phototransduction|rhodopsin mediated signaling pathway	membrane	ATP binding|G-protein coupled receptor kinase activity|rhodopsin kinase activity|signal transducer activity			ovary(2)	2	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.00696)|all_epithelial(44;0.00347)|all_lung(25;0.0221)|Breast(118;0.0411)|Lung NSC(25;0.0839)	all cancers(43;0.234)			AAGCCCGAGAACGTGCTGCTG	0.473													4	4					0	0	1	0	0	G	114325951	A	G	114325951	3	3	81	1	0	0	0	0	1	0	0	0	6831	43	2	3	975	3	GRK1	13	114325951	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	47	114325951	843927	10346	13962											
GAS6	2621	broad.mit.edu	37	13	114535710	114535710	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:114535710C>T	ENST00000357389.3	-	9	1131	c.979G>A	c.(979-981)Gtg>Atg	p.V327M	GAS6-AS1_ENST00000458001.1_RNA|GAS6_ENST00000418959.3_De_novo_Start_InFrame|GAS6_ENST00000355761.4_Missense_Mutation_p.V230M|GAS6_ENST00000327773.6_Missense_Mutation_p.V284M|GAS6_ENST00000450766.1_Missense_Mutation_p.V11M			Q14393	GAS6_HUMAN	growth arrest-specific 6	327					cell proliferation|leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|post-translational protein modification|proteolysis|regulation of growth	endoplasmic reticulum lumen|extracellular space|Golgi lumen|platelet alpha granule lumen	calcium ion binding|receptor agonist activity			central_nervous_system(4)|ovary(1)	5	Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0176)|all_epithelial(44;0.0104)|all_lung(25;0.0249)|Lung NSC(25;0.0908)|Breast(118;0.188)				CTGAAGGGCACGCACGGCAAG	0.687													6	49					0	0	1	0	0	T	114535710	C	T	114535710	3	4	81	1	0	0	0	0	1	0	0	0	6289	536	19	1	1214	1	GAS6	13	114535710	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	209759	114535710	634168	10347	13963											
RASA3	22821	broad.mit.edu	37	13	114751266	114751266	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:114751266G>T	ENST00000334062.7	-	23	2370	c.2249C>A	c.(2248-2250)gCc>gAc	p.A750D	RASA3_ENST00000389544.4_Missense_Mutation_p.A718D	NM_007368.2	NP_031394.2	Q14644	RASA3_HUMAN	RAS p21 protein activator 3	750					intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	calcium-release channel activity|metal ion binding|Ras GTPase activator activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47	Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188)	BRCA - Breast invasive adenocarcinoma(86;0.128)			GCTCCCACAGGCCTCTGTGGA	0.637													16	30					1.15088e-07	1.34837e-07	1	1	0	T	114751266	G	T	114751266	3	4	81	1	0	0	0	0	1	0	0	0	13114	1203	42	5	263	5	RASA3	13	114751266	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	215556	114751266	418612	10348	13964											
RASA3	22821	broad.mit.edu	37	13	114757976	114757976	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:114757976G>A	ENST00000334062.7	-	22	2351	c.2230C>T	c.(2230-2232)Ctg>Ttg	p.L744L	RASA3_ENST00000389544.4_Silent_p.L712L	NM_007368.2	NP_031394.2	Q14644	RASA3_HUMAN	RAS p21 protein activator 3	744					intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	calcium-release channel activity|metal ion binding|Ras GTPase activator activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47	Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188)	BRCA - Breast invasive adenocarcinoma(86;0.128)			ATCTTCTCCAGCTTGCTCATG	0.602													3	24					0	0	1	0	0	A	114757976	G	A	114757976	2	1	81	1	0	0	0	0	0	0	0	1	13114	962	34	2		2	RASA3	13	114757976	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	6710	114757976	411902	10349	13965											
CDC16	8881	broad.mit.edu	37	13	115012436	115012436	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:115012436C>T	ENST00000360383.3	+	11	1126	c.928C>T	c.(928-930)Ctc>Ttc	p.L310F	CDC16_ENST00000252458.6_Missense_Mutation_p.L216F|CDC16_ENST00000375312.3_Missense_Mutation_p.L216F|CDC16_ENST00000252457.5_Missense_Mutation_p.L309F|CDC16_ENST00000356221.3_Missense_Mutation_p.L310F|CDC16_ENST00000375310.1_Missense_Mutation_p.L216F|CDC16_ENST00000375308.1_Missense_Mutation_p.L216F	NM_001078645.1|NM_003903.3	NP_001072113.1|NP_003894.3	Q13042	CDC16_HUMAN	cell division cycle 16	310					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cell proliferation|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	binding			endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238)	BRCA - Breast invasive adenocarcinoma(86;0.0886)			ATGTTACTATCTCATGGTCGG	0.328													18	47					0	0	1	0	0	T	115012436	C	T	115012436	3	4	81	1	0	0	0	0	1	0	0	0	3080	913	32	2	970	2	CDC16	13	115012436	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	254460	115012436	157442	10350	13966											
OR11H12	440153	broad.mit.edu	37	14	19377766	19377766	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:19377766G>A	ENST00000550708.1	+	1	245	c.173G>A	c.(172-174)gGa>gAa	p.G58E		NM_001013354.1|NM_001197287.1	NP_001013372.1|NP_001184216.1	B2RN74	O11HC_HUMAN	olfactory receptor, family 11, subfamily H, member 12	58					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		ACAGGGAATGGAGCCATTGCT	0.408													64	78					0	0	1	0	0	A	19377766	G	A	19377766	3	1	81	1	0	0	0	0	1	0	0	0	10975	1174	41	2	175	2	OR11H12	14	19377766	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08		19377766	87971774	10351	13967											
OR11H12	440153	broad.mit.edu	37	14	19378537	19378537	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:19378537C>T	ENST00000550708.1	+	1	1016	c.944C>T	c.(943-945)gCc>gTc	p.A315V		NM_001013354.1|NM_001197287.1	NP_001013372.1|NP_001184216.1	B2RN74	O11HC_HUMAN	olfactory receptor, family 11, subfamily H, member 12	315					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		ATAAAGGCAGCCCTGAGGAAA	0.393													36	69					0	0	1	0	0	T	19378537	C	T	19378537	3	4	81	1	0	0	0	0	1	0	0	0	10975	739	26	2	946	2	OR11H12	14	19378537	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	771	19378537	87971003	10352	13968											
OR4M1	441670	broad.mit.edu	37	14	20248802	20248802	+	Silent	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:20248802T>G	ENST00000315957.4	+	1	402	c.321T>G	c.(319-321)gtT>gtG	p.V107V		NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M, member 1	107					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TACACTTTGTTGGGGCTTCGG	0.473													11	294					0	0	1	0	0	G	20248802	T	G	20248802	2	3	81	1	0	0	0	0	0	0	0	1	11123	1799	63	5		5	OR4M1	14	20248802	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	870265	20248802	87100738	10353	13969	68	2									
OR4M1	441670	broad.mit.edu	37	14	20248810	20248810	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:20248810C>T	ENST00000315957.4	+	1	410	c.329C>T	c.(328-330)tCg>tTg	p.S110L		NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M, member 1	110					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S110L(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GTTGGGGCTTCGGAGATGTTC	0.478													80	217					0	0	1	0	0	T	20248810	C	T	20248810	3	4	81	1	0	0	0	0	1	0	0	0	11123	893	31	1	331	1	OR4M1	14	20248810	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	8	20248810	87100730	10354	13970	68	2									
OR4M1	441670	broad.mit.edu	37	14	20249132	20249132	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:20249132C>A	ENST00000315957.4	+	1	732	c.651C>A	c.(649-651)tcC>tcA	p.S217S		NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M, member 1	217					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TGTTAATGTCCTATGCCTTCC	0.488													14	246					1.5842e-08	1.88841e-08	1	1	0	A	20249132	C	A	20249132	2	1	81	1	0	0	0	0	0	0	0	1	11123	668	24	4		4	OR4M1	14	20249132	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	322	20249132	87100408	10355	13971											
OR4K2	390431	broad.mit.edu	37	14	20344654	20344654	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:20344654C>T	ENST00000298642.2	+	1	264	c.228C>T	c.(226-228)ttC>ttT	p.F76F		NM_001005501.1	NP_001005501.1	Q8NGD2	OR4K2_HUMAN	olfactory receptor, family 4, subfamily K, member 2	76					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TTGCTTCTTTCGCCACCCCAA	0.418													97	178					0	0	1	0	0	T	20344654	C	T	20344654	2	4	81	1	0	0	0	0	0	0	0	1	11120	883	31	1		1	OR4K2	14	20344654	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	95522	20344654	87004886	10356	13972											
OR4K5	79317	broad.mit.edu	37	14	20389536	20389536	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:20389536C>A	ENST00000315915.4	+	1	796	c.771C>A	c.(769-771)atC>atA	p.I257I		NM_001005483.1	NP_001005483.1	Q8NGD3	OR4K5_HUMAN	olfactory receptor, family 4, subfamily K, member 5	257					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GCATCTTCATCTATGTGTGGC	0.408													62	193					1.40621e-15	1.79567e-15	1	1	0	A	20389536	C	A	20389536	2	1	81	1	0	0	0	0	0	0	0	1	11121	903	32	4		4	OR4K5	14	20389536	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	44882	20389536	86960004	10357	13973											
OR4K5	79317	broad.mit.edu	37	14	20389691	20389691	+	Missense_Mutation	SNP	G	G	A	rs140004714		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:20389691G>A	ENST00000315915.4	+	1	951	c.926G>A	c.(925-927)aGg>aAg	p.R309K		NM_001005483.1	NP_001005483.1	Q8NGD3	OR4K5_HUMAN	olfactory receptor, family 4, subfamily K, member 5	309					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CTGAGGCCAAGGAGAATTTCT	0.373													31	98					0	0	1	0	0	A	20389691	G	A	20389691	3	1	81	1	0	0	0	0	1	0	0	0	11121	1000	35	2	928	2	OR4K5	14	20389691	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	155	20389691	86959849	10358	13974											
OR4K15	81127	broad.mit.edu	37	14	20443743	20443743	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:20443743A>G	ENST00000305051.5	+	1	141	c.66A>G	c.(64-66)ccA>ccG	p.P22P		NM_001005486.1	NP_001005486.1	Q8NH41	OR4KF_HUMAN	olfactory receptor, family 4, subfamily K, member 15	22					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|ovary(1)|prostate(2)|skin(1)|stomach(1)	39	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;3.58e-06)	GBM - Glioblastoma multiforme(265;0.00327)		AGTCCCTTCCAAAATCGATGA	0.383													9	97					0	0	1	0	0	G	20443743	A	G	20443743	2	3	81	1	0	0	0	0	0	0	0	1	11118	117	5	3		3	OR4K15	14	20443743	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	54052	20443743	86905797	10359	13975											
OR4N5	390437	broad.mit.edu	37	14	20612023	20612023	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:20612023C>A	ENST00000333629.1	+	1	129	c.129C>A	c.(127-129)ttC>ttA	p.F43L		NM_001004724.1	NP_001004724.1	Q8IXE1	OR4N5_HUMAN	olfactory receptor, family 4, subfamily N, member 5	43					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1)	29	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.84e-06)	GBM - Glioblastoma multiforme(265;0.0143)		CTGGAAATTTCCTCATCATTT	0.448													16	211					6.94344e-10	8.44171e-10	1	1	0	A	20612023	C	A	20612023	3	1	81	1	0	0	0	0	1	0	0	0	11127	854	30	5	131	5	OR4N5	14	20612023	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	168280	20612023	86737517	10360	13976											
OR11H6	122748	broad.mit.edu	37	14	20692852	20692852	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:20692852C>T	ENST00000315519.2	+	1	1062	c.984C>T	c.(982-984)agC>agT	p.S328S		NM_001004480.1	NP_001004480.1	Q8NGC7	O11H6_HUMAN	olfactory receptor, family 11, subfamily H, member 6	328					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(13)|ovary(2)|prostate(1)|skin(2)	29	all_cancers(95;0.00108)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0143)		TAACAGTTAGCCAAAACTGAG	0.368													32	58					0	0	1	0	0	T	20692852	C	T	20692852	2	4	81	1	0	0	0	0	0	0	0	1	10977	738	26	2		2	OR11H6	14	20692852	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	80829	20692852	86656688	10361	13977											
OR11H4	390442	broad.mit.edu	37	14	20711921	20711921	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:20711921C>T	ENST00000315409.2	+	1	1024	c.971C>T	c.(970-972)tCg>tTg	p.S324L		NM_001004479.1	NP_001004479.1	Q8NGC9	O11H4_HUMAN	olfactory receptor, family 11, subfamily H, member 4	324					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	29	all_cancers(95;0.000888)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0146)		CGTCAAAATTCGTGAGCCAAA	0.398													27	45					0	0	1	0	0	T	20711921	C	T	20711921	3	4	81	1	0	0	0	0	1	0	0	0	10976	893	31	1	973	1	OR11H4	14	20711921	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	19069	20711921	86637619	10362	13978											
TTC5	91875	broad.mit.edu	37	14	20757814	20757814	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:20757814G>A	ENST00000258821.3	-	10	1351	c.1295C>T	c.(1294-1296)aCa>aTa	p.T432I		NM_138376.2	NP_612385.2	Q8N0Z6	TTC5_HUMAN	tetratricopeptide repeat domain 5	432					DNA repair	cytoplasm|nucleus	binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	15	all_cancers(95;0.00092)		Epithelial(56;1.1e-06)|all cancers(55;8.07e-06)	GBM - Glioblastoma multiforme(265;0.0106)		CGATGCCACTGTGGCAACAGC	0.562													3	24					0	0	1	0	0	A	20757814	G	A	20757814	3	1	81	1	0	0	0	0	1	0	0	0	16773	1377	48	2	31	2	TTC5	14	20757814	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	45893	20757814	86591726	10363	13979											
TTC5	91875	broad.mit.edu	37	14	20757860	20757860	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:20757860C>A	ENST00000258821.3	-	10	1305	c.1249G>T	c.(1249-1251)Gtg>Ttg	p.V417L		NM_138376.2	NP_612385.2	Q8N0Z6	TTC5_HUMAN	tetratricopeptide repeat domain 5	417					DNA repair	cytoplasm|nucleus	binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	15	all_cancers(95;0.00092)		Epithelial(56;1.1e-06)|all cancers(55;8.07e-06)	GBM - Glioblastoma multiforme(265;0.0106)		CCATTCACCACTAGCAGGAGG	0.512													7	14					0.00198382	0.00209725	1	1	0	A	20757860	C	A	20757860	3	1	81	1	0	0	0	0	1	0	0	0	16773	565	20	4	77	4	TTC5	14	20757860	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	46	20757860	86591680	10364	13980											
CCNB1IP1	57820	broad.mit.edu	37	14	20784616	20784616	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:20784616C>A	ENST00000398169.3	-	5	683	c.67G>T	c.(67-69)Gca>Tca	p.A23S	CCNB1IP1_ENST00000358932.4_Missense_Mutation_p.A23S|CCNB1IP1_ENST00000353689.4_Missense_Mutation_p.A23S|CCNB1IP1_ENST00000437553.2_Missense_Mutation_p.A23S|CCNB1IP1_ENST00000398163.2_Missense_Mutation_p.A23S|CCNB1IP1_ENST00000398160.2_Missense_Mutation_p.A23S			Q9NPC3	CIP1_HUMAN	cyclin B1 interacting protein 1, E3 ubiquitin protein ligase	23						chromosome|nucleus	ligase activity|metal ion binding|protein binding		HMGA2/CCNB1IP1(2)	breast(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	9	all_cancers(95;0.00092)	all_lung(585;0.235)	Epithelial(56;8.86e-07)|all cancers(55;4.98e-06)	GBM - Glioblastoma multiforme(265;0.0164)		GTGACCCATGCATAGCCAGAG	0.473			T	HMGA2	leiomyoma								5	66					0.0215528	0.0221217	1	1	0	A	20784616	C	A	20784616	3	1	81	1	0	0	0	0	1	0	0	0	2934	710	25	5	778	5	CCNB1IP1	14	20784616	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	26756	20784616	86564924	10365	13981											
PARP2	10038	broad.mit.edu	37	14	20824784	20824784	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:20824784G>T	ENST00000527915.1	+	13	1309	c.1304G>T	c.(1303-1305)tGg>tTg	p.W435L	PARP2_ENST00000250416.5_Missense_Mutation_p.W435L|PARP2_ENST00000429687.3_Missense_Mutation_p.W422L			Q9UGN5	PARP2_HUMAN	poly (ADP-ribose) polymerase 2	435	PARP catalytic.				protein ADP-ribosylation	nucleolus|nucleoplasm	DNA binding|NAD+ ADP-ribosyltransferase activity			central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)	15	all_cancers(95;0.00092)	all_lung(585;0.235)	Epithelial(56;5.34e-07)|all cancers(55;3.7e-06)	GBM - Glioblastoma multiforme(265;0.00888)|READ - Rectum adenocarcinoma(17;0.0649)		ATGAGTAACTGGGTGGGAATC	0.468								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA					15	226					1.15088e-07	1.34837e-07	1	1	0	T	20824784	G	T	20824784	3	4	81	1	0	0	0	0	1	0	0	0	11508	1357	47	5	1354	5	PARP2	14	20824784	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	40168	20824784	86524756	10366	13982											
TEP1	7011	broad.mit.edu	37	14	20845586	20845586	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:20845586T>C	ENST00000262715.5	-	41	5981	c.5941A>G	c.(5941-5943)Aag>Gag	p.K1981E	TEP1_ENST00000556935.1_Missense_Mutation_p.K1873E|TEP1_ENST00000545983.1_Missense_Mutation_p.K319E	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	1981					telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		ACCAATACCTTGGGGCTTAGC	0.582													20	34					0	0	1	0	0	C	20845586	T	C	20845586	3	2	81	1	0	0	0	0	1	0	0	0	15818	1821	63	3	2002	3	TEP1	14	20845586	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	20802	20845586	86503954	10367	13983											
TEP1	7011	broad.mit.edu	37	14	20845812	20845812	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:20845812C>T	ENST00000262715.5	-	40	5862	c.5822G>A	c.(5821-5823)cGg>cAg	p.R1941Q	TEP1_ENST00000556935.1_Missense_Mutation_p.R1833Q|TEP1_ENST00000545983.1_Missense_Mutation_p.R279Q	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	1941					telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		AACAGCCACCCGATCACCATC	0.552													47	71					0	0	1	0	0	T	20845812	C	T	20845812	3	4	81	1	0	0	0	0	1	0	0	0	15818	652	23	1	2125	1	TEP1	14	20845812	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	226	20845812	86503728	10368	13984											
TEP1	7011	broad.mit.edu	37	14	20850092	20850092	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:20850092G>A	ENST00000262715.5	-	30	4444	c.4404C>T	c.(4402-4404)tgC>tgT	p.C1468C	TEP1_ENST00000556935.1_Silent_p.C1360C|TEP1_ENST00000545983.1_5'UTR	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	1468	NACHT.		C -> Y (in dbSNP:rs1713456).		telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding	p.C1468C(1)		NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		TCTGGACGAGGCAGGCAAACG	0.607													39	43					0	0	1	0	0	A	20850092	G	A	20850092	2	1	81	1	0	0	0	0	0	0	0	1	15818	1195	42	2		2	TEP1	14	20850092	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	4280	20850092	86499448	10369	13985											
TEP1	7011	broad.mit.edu	37	14	20851712	20851712	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:20851712C>T	ENST00000262715.5	-	26	3842	c.3802G>A	c.(3802-3804)Gct>Act	p.A1268T	TEP1_ENST00000556935.1_Missense_Mutation_p.A1160T	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	1268	NACHT.				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		AACCTATCAGCCCCATCGATG	0.587													12	26					0	0	1	0	0	T	20851712	C	T	20851712	3	4	81	1	0	0	0	0	1	0	0	0	15818	739	26	2	4201	2	TEP1	14	20851712	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1620	20851712	86497828	10370	13986											
TEP1	7011	broad.mit.edu	37	14	20852291	20852291	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:20852291C>T	ENST00000262715.5	-	24	3480	c.3440G>A	c.(3439-3441)cGc>cAc	p.R1147H	TEP1_ENST00000556935.1_Missense_Mutation_p.R1039H	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	1147					telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		CTGAAGAAGGCGTGGCCGGGC	0.647													24	31					0	0	1	0	0	T	20852291	C	T	20852291	3	4	81	1	0	0	0	0	1	0	0	0	15818	768	27	1	4571	1	TEP1	14	20852291	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	579	20852291	86497249	10371	13987											
TEP1	7011	broad.mit.edu	37	14	20854314	20854314	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:20854314G>A	ENST00000262715.5	-	20	2942	c.2902C>T	c.(2902-2904)Ctg>Ttg	p.L968L	TEP1_ENST00000556935.1_Silent_p.L860L	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	968					telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		CCCACAAACAGCTGTGCGTTC	0.542													8	93					0	0	1	0	0	A	20854314	G	A	20854314	2	1	81	1	0	0	0	0	0	0	0	1	15818	962	34	2		2	TEP1	14	20854314	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2023	20854314	86495226	10372	13988											
TEP1	7011	broad.mit.edu	37	14	20871901	20871901	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:20871901C>T	ENST00000262715.5	-	6	1215	c.1175G>A	c.(1174-1176)cGc>cAc	p.R392H	TEP1_ENST00000556935.1_Intron	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	392	TROVE.				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		GGGTGGCCGGCGGGGGTGTCT	0.627													27	44					0	0	1	0	0	T	20871901	C	T	20871901	3	4	81	1	0	0	0	0	1	0	0	0	15818	768	27	1	6908	1	TEP1	14	20871901	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	17587	20871901	86477639	10373	13989											
APEX1	328	broad.mit.edu	37	14	20925444	20925444	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:20925444A>G	ENST00000216714.3	+	5	1002	c.734A>G	c.(733-735)cAg>cGg	p.Q245R	APEX1_ENST00000398030.4_Missense_Mutation_p.Q245R|APEX1_ENST00000555414.1_Missense_Mutation_p.Q245R|APEX1_ENST00000557054.1_3'UTR|APEX1_ENST00000557365.1_3'UTR	NM_001244249.1|NM_001641.3	NP_001231178.1|NP_001632.2	P27695	APEX1_HUMAN	APEX nuclease (multifunctional DNA repair enzyme) 1	245					base-excision repair|DNA demethylation|DNA recombination|positive regulation of anti-apoptosis|positive regulation of DNA repair|regulation of mRNA stability|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|endoplasmic reticulum|mitochondrion|nuclear speck|nucleolus|perinuclear region of cytoplasm|ribosome	3'-5' exonuclease activity|chromatin DNA binding|damaged DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|metal ion binding|oxidoreductase activity|phosphodiesterase I activity|protein binding|ribonuclease H activity|RNA binding|site-specific endodeoxyribonuclease activity, specific for altered base|transcription coactivator activity|transcription corepressor activity|uracil DNA N-glycosylase activity			breast(2)|endometrium(1)|large_intestine(4)|ovary(2)	9	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;1.09e-07)|all cancers(55;1.19e-06)	GBM - Glioblastoma multiforme(265;0.0224)|READ - Rectum adenocarcinoma(17;0.193)	Lucanthone(DB04967)	GAATTACTGCAGGCTGTGCCA	0.498								Other BER factors					30	54					0	0	1	0	0	G	20925444	A	G	20925444	3	3	81	1	0	0	0	0	1	0	0	0	765	188	7	3	748	3	APEX1	14	20925444	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	53543	20925444	86424096	10374	13990											
ANG	283	broad.mit.edu	37	14	21161892	21161892	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:21161892C>T	ENST00000336811.6	+	2	769	c.169C>T	c.(169-171)Cgg>Tgg	p.R57W	RNASE4_ENST00000555835.1_Intron|RNASE4_ENST00000304704.4_Intron|ANG_ENST00000554073.1_Intron|RP11-903H12.3_ENST00000554286.1_RNA|AL163636.6_ENST00000553909.1_Intron|RNASE4_ENST00000555597.1_Intron|RNASE4_ENST00000397995.2_Intron|ANG_ENST00000397990.4_Missense_Mutation_p.R57W	NM_001145.4	NP_001136.1	P03950	ANGI_HUMAN	angiogenin, ribonuclease, RNase A family, 5	57					actin filament polymerization|activation of phospholipase A2 activity|activation of phospholipase C activity|activation of protein kinase B activity|angiogenesis|cell communication|cell death|cell migration|diacylglycerol biosynthetic process|homeostatic process|negative regulation of smooth muscle cell proliferation|negative regulation of translation|oocyte maturation|ovarian follicle development|placenta development|positive regulation of endothelial cell proliferation|positive regulation of phosphorylation|positive regulation of protein secretion|response to hormone stimulus|response to hypoxia|rRNA transcription	angiogenin-PRI complex|basal lamina|extracellular space|growth cone|neuronal cell body|nucleolus	actin binding|copper ion binding|heparin binding|pancreatic ribonuclease activity|peptide binding|receptor binding|rRNA binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|ovary(1)|prostate(1)	5	all_cancers(95;0.00387)	all_cancers(140;0.196)|all_epithelial(140;0.156)	Epithelial(56;5.13e-07)|all cancers(55;4.73e-06)	OV - Ovarian serous cystadenocarcinoma(311;3.25e-17)|GBM - Glioblastoma multiforme(265;5.56e-07)		CATGAGGAGACGGGGCCTGAC	0.507													12	40					0	0	1	0	0	T	21161892	C	T	21161892	3	4	81	1	0	0	0	0	1	0	0	0	603	527	19	1	171	1	ANG	14	21161892	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	236448	21161892	86187648	10375	13991											
RNASE4	6038	broad.mit.edu	37	14	21167681	21167681	+	Missense_Mutation	SNP	C	C	T	rs142040605		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:21167681C>T	ENST00000555835.1	+	2	827	c.151C>T	c.(151-153)Cgc>Tgc	p.R51C	RNASE4_ENST00000304704.4_Missense_Mutation_p.R51C|RP11-903H12.3_ENST00000554286.1_RNA|AL163636.6_ENST00000553909.1_3'UTR|RNASE4_ENST00000555597.1_Missense_Mutation_p.R51C|RNASE4_ENST00000397995.2_Missense_Mutation_p.R51C	NM_002937.3	NP_002928.1	P34096	RNAS4_HUMAN	ribonuclease, RNase A family, 4	51					mRNA cleavage	extracellular region	nucleic acid binding|pancreatic ribonuclease activity			central_nervous_system(1)|large_intestine(1)|lung(3)|skin(1)	6	all_cancers(95;0.00304)		Epithelial(56;5.13e-07)|all cancers(55;4.73e-06)	GBM - Glioblastoma multiforme(265;0.0133)		TGGCAGTGATCGCTACTGCAA	0.532													8	73					0	0	1	0	0	T	21167681	C	T	21167681	3	4	81	1	0	0	0	0	1	0	0	0	13458	884	31	1	153	1	RNASE4	14	21167681	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	5789	21167681	86181859	10376	13992											
SLC39A2	29986	broad.mit.edu	37	14	21469172	21469172	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:21469172C>A	ENST00000298681.4	+	4	521	c.364C>A	c.(364-366)Ctg>Atg	p.L122M	SLC39A2_ENST00000554422.1_3'UTR	NM_014579.3	NP_055394.2	Q9NP94	S39A2_HUMAN	solute carrier family 39 (zinc transporter), member 2	122						cytoplasmic membrane-bounded vesicle|integral to plasma membrane	zinc ion transmembrane transporter activity			breast(2)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	14	all_cancers(95;0.00267)		OV - Ovarian serous cystadenocarcinoma(11;1.34e-10)|Epithelial(56;1.57e-08)|all cancers(55;7.45e-08)	GBM - Glioblastoma multiforme(265;0.0187)		TTTGGAGTCGCTGGCATTGCA	0.502													91	215					2.22755e-30	2.97094e-30	1	1	0	A	21469172	C	A	21469172	3	1	81	1	0	0	0	0	1	0	0	0	14673	796	28	4	378	4	SLC39A2	14	21469172	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	301491	21469172	85880368	10377	13993											
RNASE7	84659	broad.mit.edu	37	14	21511156	21511156	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:21511156C>T	ENST00000298690.4	+	2	262	c.5C>T	c.(4-6)gCa>gTa	p.A2V	NDRG2_ENST00000403829.3_Intron	NM_032572.3	NP_115961	Q9H1E1	RNAS7_HUMAN	ribonuclease, RNase A family, 7	2					defense response to bacterium|innate immune response	extracellular region	nucleic acid binding|pancreatic ribonuclease activity			endometrium(2)|large_intestine(2)|lung(1)|ovary(1)	6	all_cancers(95;0.000759)		OV - Ovarian serous cystadenocarcinoma(11;3.42e-11)|Epithelial(56;5.57e-09)|all cancers(55;2.36e-08)	GBM - Glioblastoma multiforme(265;0.0191)		AGAGAGATGGCACCGGCCAGA	0.577													9	11					0	0	1	0	0	T	21511156	C	T	21511156	3	4	81	1	0	0	0	0	1	0	0	0	13460	710	25	2	7	2	RNASE7	14	21511156	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	41984	21511156	85838384	10378	13994											
RPGRIP1	57096	broad.mit.edu	37	14	21790062	21790062	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:21790062A>G	ENST00000206660.6	+	13	1661	c.1661A>G	c.(1660-1662)cAc>cGc	p.H554R	RPGRIP1_ENST00000400017.2_Missense_Mutation_p.H554R|RPGRIP1_ENST00000556336.1_Missense_Mutation_p.H527R|RPGRIP1_ENST00000553500.1_3'UTR|RPGRIP1_ENST00000557771.1_Missense_Mutation_p.H527R|RPGRIP1_ENST00000382933.4_Missense_Mutation_p.H196R			Q96KN7	RPGR1_HUMAN	retinitis pigmentosa GTPase regulator interacting protein 1	554				HK -> SQR (in Ref. 1; AAG10246).	response to stimulus|visual perception	cilium				breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		AATAGAGATCACAAAGAAAAG	0.398													4	20					0	0	1	0	0	G	21790062	A	G	21790062	3	3	81	1	0	0	0	0	1	0	0	0	13601	159	6	3	1711	3	RPGRIP1	14	21790062	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	278906	21790062	85559478	10379	13995											
RPGRIP1	57096	broad.mit.edu	37	14	21793078	21793078	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:21793078G>A	ENST00000206660.6	+	14	2064	c.2064G>A	c.(2062-2064)tcG>tcA	p.S688S	RPGRIP1_ENST00000307974.4_Silent_p.S47S|RPGRIP1_ENST00000400017.2_Silent_p.S688S|RPGRIP1_ENST00000556336.1_Intron|RPGRIP1_ENST00000553500.1_Intron|RPGRIP1_ENST00000557771.1_Silent_p.S650S|RPGRIP1_ENST00000382933.4_Intron			Q96KN7	RPGR1_HUMAN	retinitis pigmentosa GTPase regulator interacting protein 1	688					response to stimulus|visual perception	cilium				breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		AGACAGATTCGCTTTTCTTAC	0.502													46	93					0	0	1	0	0	A	21793078	G	A	21793078	2	1	81	1	0	0	0	0	0	0	0	1	13601	1074	38	1		1	RPGRIP1	14	21793078	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	3016	21793078	85556462	10380	13996											
RPGRIP1	57096	broad.mit.edu	37	14	21794202	21794202	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:21794202C>A	ENST00000206660.6	+	16	2580	c.2580C>A	c.(2578-2580)gaC>gaA	p.D860E	RPGRIP1_ENST00000307974.4_Missense_Mutation_p.D219E|RPGRIP1_ENST00000400017.2_Missense_Mutation_p.D860E|RPGRIP1_ENST00000556336.1_Intron|RPGRIP1_ENST00000557771.1_Missense_Mutation_p.D822E|RPGRIP1_ENST00000382933.4_Intron			Q96KN7	RPGR1_HUMAN	retinitis pigmentosa GTPase regulator interacting protein 1	860	C2.				response to stimulus|visual perception	cilium				breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		TGACCTCTGACCTGGACCATT	0.502													6	21					0.0215528	0.0221217	1	1	0	A	21794202	C	A	21794202	3	1	81	1	0	0	0	0	1	0	0	0	13601	506	18	5	2642	5	RPGRIP1	14	21794202	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1124	21794202	85555338	10381	13997											
SUPT16H	11198	broad.mit.edu	37	14	21825521	21825521	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:21825521G>T	ENST00000216297.2	-	22	2833	c.2495C>A	c.(2494-2496)cCt>cAt	p.P832H		NM_007192.3	NP_009123.1	Q9Y5B9	SP16H_HUMAN	suppressor of Ty 16 homolog (S. cerevisiae)	832					DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|nucleoplasm	GTP binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(95;0.00115)		Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)		CACCACAAAAGGTGGCTGTCA	0.388													4	27					0.184627	0.18622	1	1	0	T	21825521	G	T	21825521	3	4	81	1	0	0	0	0	1	0	0	0	15452	1000	35	4	668	4	SUPT16H	14	21825521	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	31319	21825521	85524019	10382	13998											
SUPT16H	11198	broad.mit.edu	37	14	21830380	21830380	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:21830380G>T	ENST00000216297.2	-	15	2107	c.1769C>A	c.(1768-1770)cCt>cAt	p.P590H		NM_007192.3	NP_009123.1	Q9Y5B9	SP16H_HUMAN	suppressor of Ty 16 homolog (S. cerevisiae)	590					DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|nucleoplasm	GTP binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(95;0.00115)		Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)		AGTCGCTTCAGGGTTAGGAAA	0.433													3	30					0.115264	0.117126	1	1	0	T	21830380	G	T	21830380	3	4	81	1	0	0	0	0	1	0	0	0	15452	1000	35	4	1422	4	SUPT16H	14	21830380	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	4859	21830380	85519160	10383	13999											
METTL3	56339	broad.mit.edu	37	14	21967506	21967506	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:21967506T>C	ENST00000298717.4	-	9	1613	c.1462A>G	c.(1462-1464)Aaa>Gaa	p.K488E		NM_019852.3	NP_062826.2	Q86U44	MTA70_HUMAN	methyltransferase like 3	488					gene expression	nuclear speck	mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity|RNA binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(95;0.000628)		Epithelial(56;6.61e-06)	GBM - Glioblastoma multiforme(265;0.0146)		GGATTTCCTTTGACACCAACC	0.438													3	58					0	0	1	0	0	C	21967506	T	C	21967506	3	2	81	1	0	0	0	0	1	0	0	0	9551	1821	63	3	292	3	METTL3	14	21967506	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	137126	21967506	85382034	10384	14000											
METTL3	56339	broad.mit.edu	37	14	21971507	21971507	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:21971507G>A	ENST00000298717.4	-	3	683	c.532C>T	c.(532-534)Cgg>Tgg	p.R178W	METTL3_ENST00000538267.1_Intron	NM_019852.3	NP_062826.2	Q86U44	MTA70_HUMAN	methyltransferase like 3	178					gene expression	nuclear speck	mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity|RNA binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(95;0.000628)		Epithelial(56;6.61e-06)	GBM - Glioblastoma multiforme(265;0.0146)		TCTGCACGCCGCTTCTGCCCT	0.552													12	32					0	0	1	0	0	A	21971507	G	A	21971507	3	1	81	1	0	0	0	0	1	0	0	0	9551	1086	38	1	1246	1	METTL3	14	21971507	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	4001	21971507	85378033	10385	14001											
SALL2	6297	broad.mit.edu	37	14	21991466	21991466	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:21991466C>T	ENST00000327430.3	-	2	2690	c.2396G>A	c.(2395-2397)aGa>aAa	p.R799K	SALL2_ENST00000538754.1_Intron|SALL2_ENST00000450879.2_Missense_Mutation_p.R662K|SALL2_ENST00000317492.5_Intron	NM_005407.1	NP_005398.1	Q9Y467	SALL2_HUMAN	spalt-like transcription factor 2	799							DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(6)|urinary_tract(2)	43	all_cancers(95;0.000662)			GBM - Glioblastoma multiforme(265;0.0151)		TGAATCACCTCTCACTGATAT	0.537													11	24					0	0	1	0	0	T	21991466	C	T	21991466	3	4	81	1	0	0	0	0	1	0	0	0	13863	913	32	2	631	2	SALL2	14	21991466	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	19959	21991466	85358074	10386	14002											
SALL2	6297	broad.mit.edu	37	14	21993529	21993529	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:21993529G>T	ENST00000327430.3	-	2	627	c.333C>A	c.(331-333)acC>acA	p.T111T	SALL2_ENST00000538754.1_Silent_p.T109T|SALL2_ENST00000450879.2_Silent_p.T109T|SALL2_ENST00000317492.5_Silent_p.T111T	NM_005407.1	NP_005398.1	Q9Y467	SALL2_HUMAN	spalt-like transcription factor 2	111							DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(6)|urinary_tract(2)	43	all_cancers(95;0.000662)			GBM - Glioblastoma multiforme(265;0.0151)		CTGGGCCCCAGGTGGGATCCG	0.637													5	70					5.9392e-07	6.87481e-07	1	1	0	T	21993529	G	T	21993529	2	4	81	1	0	0	0	0	0	0	0	1	13863	987	35	4		4	SALL2	14	21993529	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2063	21993529	85356011	10387	14003											
ABHD4	63874	broad.mit.edu	37	14	23079789	23079789	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:23079789G>A	ENST00000428304.2	+	7	1034	c.964G>A	c.(964-966)Gtc>Atc	p.V322I		NM_022060.2	NP_071343.2	Q8TB40	ABHD4_HUMAN	abhydrolase domain containing 4	322					lipid catabolic process		hydrolase activity			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(3)|lung(3)|prostate(1)	14	all_cancers(95;5.49e-05)			GBM - Glioblastoma multiforme(265;0.0153)		CTCCCACCATGTCTATGCTGA	0.527													14	37					0	0	1	0	0	A	23079789	G	A	23079789	3	1	81	1	0	0	0	0	1	0	0	0	84	1377	48	2	990	2	ABHD4	14	23079789	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1086260	23079789	84269751	10388	14004											
PRMT5	10419	broad.mit.edu	37	14	23390200	23390200	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:23390200C>T	ENST00000324366.8	-	17	2050	c.1827G>A	c.(1825-1827)aaG>aaA	p.K609K	PRMT5-AS1_ENST00000424245.2_RNA|PRMT5_ENST00000397440.4_Silent_p.K438K|PRMT5-AS1_ENST00000457443.2_RNA|PRMT5_ENST00000216350.8_Silent_p.K548K|PRMT5_ENST00000553897.1_Silent_p.K565K|PRMT5_ENST00000397441.2_Silent_p.K592K|PRMT5-AS1_ENST00000599580.2_RNA|PRMT5-AS1_ENST00000609885.1_RNA|PRMT5_ENST00000538452.1_Silent_p.K503K	NM_006109.3	NP_006100.2	O14744	ANM5_HUMAN	protein arginine methyltransferase 5	609					cell proliferation|histone H4-R3 methylation|ncRNA metabolic process|regulation of mitosis|spliceosomal snRNP assembly|transcription, DNA-dependent	cytosol|nucleus	histone-arginine N-methyltransferase activity|protein binding|protein-arginine omega-N symmetric methyltransferase activity|ribonucleoprotein binding			endometrium(4)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	25	all_cancers(95;2.76e-05)			GBM - Glioblastoma multiforme(265;0.0126)		ACCACACCTTCTTGGAATTGC	0.522													14	29					0	0	1	0	0	T	23390200	C	T	23390200	2	4	81	1	0	0	0	0	0	0	0	1	12591	912	32	2		2	PRMT5	14	23390200	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	310411	23390200	83959340	10389	14005											
C14orf93	60686	broad.mit.edu	37	14	23468166	23468166	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:23468166C>T	ENST00000299088.6	-	2	496	c.67G>A	c.(67-69)Gcc>Acc	p.A23T	C14orf93_ENST00000397377.1_Intron|C14orf93_ENST00000341470.4_Missense_Mutation_p.A23T|C14orf93_ENST00000397382.4_Missense_Mutation_p.A23T|RP11-298I3.4_ENST00000556503.1_RNA|C14orf93_ENST00000406429.2_Missense_Mutation_p.A23T|C14orf93_ENST00000397379.3_Missense_Mutation_p.A23T	NM_001130708.1|NM_021944.2	NP_001124180.1|NP_068763.2	Q9H972	CN093_HUMAN	chromosome 14 open reading frame 93	23	Poly-Cys.					extracellular region				kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	17	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.0127)		CTCTTACAGGCGCAGCAGCAG	0.587													30	53					0	0	1	0	0	T	23468166	C	T	23468166	3	4	81	1	0	0	0	0	1	0	0	0	1788	768	27	1	1573	1	C14orf93	14	23468166	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	77966	23468166	83881374	10390	14006											
PSMB5	5693	broad.mit.edu	37	14	23495491	23495491	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:23495491C>T	ENST00000361611.6	-	3	862	c.599G>A	c.(598-600)cGg>cAg	p.R200Q	PSMB5_ENST00000493471.2_3'UTR|PSMB5_ENST00000425762.2_Missense_Mutation_p.R97Q|PSMB5_ENST00000460922.2_3'UTR	NM_002797.3	NP_002788.1	P28074	PSB5_HUMAN	proteasome (prosome, macropain) subunit, beta type, 5	200					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus	protein binding|threonine-type endopeptidase activity			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	7	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.0121)	Bortezomib(DB00188)	GGAATAGCCCCGATCCATGAC	0.552													4	114					0	0	1	0	0	T	23495491	C	T	23495491	3	4	81	1	0	0	0	0	1	0	0	0	12729	652	23	1	196	1	PSMB5	14	23495491	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	27325	23495491	83854049	10391	14007											
PSMB11	122706	broad.mit.edu	37	14	23511605	23511605	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:23511605C>T	ENST00000408907.2	+	1	230	c.171C>T	c.(169-171)ttC>ttT	p.F57F		NM_001099780.1	NP_001093250.1	A5LHX3	PSB11_HUMAN	proteasome (prosome, macropain) subunit, beta type, 11	57					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex	threonine-type endopeptidase activity			endometrium(1)|kidney(2)|lung(4)	7	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00643)		CCTTCCGCTTCCGTCATGGAG	0.637													4	44					0	0	1	0	0	T	23511605	C	T	23511605	2	4	81	1	0	0	0	0	0	0	0	1	12725	854	30	2		2	PSMB11	14	23511605	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	16114	23511605	83837935	10392	14008											
PSMB11	122706	broad.mit.edu	37	14	23511750	23511750	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:23511750C>T	ENST00000408907.2	+	1	375	c.316C>T	c.(316-318)Cgg>Tgg	p.R106W		NM_001099780.1	NP_001093250.1	A5LHX3	PSB11_HUMAN	proteasome (prosome, macropain) subunit, beta type, 11	106					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex	threonine-type endopeptidase activity			endometrium(1)|kidney(2)|lung(4)	7	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00643)		TACCTGGTATCGGGTATTACA	0.597													30	46					0	0	1	0	0	T	23511750	C	T	23511750	3	4	81	1	0	0	0	0	1	0	0	0	12725	875	31	1	318	1	PSMB11	14	23511750	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	145	23511750	83837790	10393	14009											
CDH24	64403	broad.mit.edu	37	14	23523968	23523968	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:23523968C>T	ENST00000397359.3	-	4	863	c.604G>A	c.(604-606)Gac>Aac	p.D202N	CDH24_ENST00000554034.1_Missense_Mutation_p.D202N|CDH24_ENST00000267383.5_Missense_Mutation_p.D202N|CDH24_ENST00000487137.2_Missense_Mutation_p.D202N	NM_022478.3	NP_071923.2	Q86UP0	CAD24_HUMAN	cadherin 24, type 2	202	Cadherin 2.				adherens junction organization|cell junction assembly|cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|delta-catenin binding			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00654)		GTCTGGGGGTCCACAGAGAAG	0.592											OREG0022594	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	20					0	0	1	0	0	T	23523968	C	T	23523968	3	4	81	1	0	0	0	0	1	0	0	0	3131	855	30	2	1895	2	CDH24	14	23523968	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	12218	23523968	83825572	10394	14010											
ACIN1	22985	broad.mit.edu	37	14	23528361	23528361	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:23528361C>T	ENST00000262710.1	-	19	4349	c.4022G>A	c.(4021-4023)cGc>cAc	p.R1341H	ACIN1_ENST00000555053.1_Missense_Mutation_p.R1328H|ACIN1_ENST00000338631.6_Missense_Mutation_p.R614H|ACIN1_ENST00000357481.2_Missense_Mutation_p.R583H|ACIN1_ENST00000557515.1_Missense_Mutation_p.R582H|ACIN1_ENST00000457657.1_Missense_Mutation_p.R1301H|ACIN1_ENST00000605057.1_Missense_Mutation_p.R1283H|ACIN1_ENST00000397341.3_Missense_Mutation_p.R583H	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	1341	Arg/Asp/Glu/Lys-rich.				apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding			breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		TCCCAGCTAGCGGCGCCCACC	0.652											OREG0022595	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	47					0	0	1	0	0	T	23528361	C	T	23528361	3	4	81	1	0	0	0	0	1	0	0	0	142	768	27	1	7	1	ACIN1	14	23528361	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	4393	23528361	83821179	10395	14011											
ACIN1	22985	broad.mit.edu	37	14	23549097	23549097	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:23549097C>A	ENST00000262710.1	-	6	1948	c.1621G>T	c.(1621-1623)Gga>Tga	p.G541*	ACIN1_ENST00000555053.1_Nonsense_Mutation_p.G541*|ACIN1_ENST00000457657.1_Nonsense_Mutation_p.G501*|ACIN1_ENST00000605057.1_Nonsense_Mutation_p.G483*	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	541					apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding			breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		TCAGTGATTCCTTTGGCCAGT	0.483													7	111					0.0293803	0.0300537	1	1	0	A	23549097	C	A	23549097	4	1	81	1	0	0	0	0	0	1	0	0	142	690	24	4	2607	4	ACIN1	14	23549097	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	20736	23549097	83800443	10396	14012											
ACIN1	22985	broad.mit.edu	37	14	23549333	23549333	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:23549333C>A	ENST00000262710.1	-	6	1712	c.1385G>T	c.(1384-1386)aGg>aTg	p.R462M	ACIN1_ENST00000555053.1_Missense_Mutation_p.R462M|ACIN1_ENST00000457657.1_Missense_Mutation_p.R422M|ACIN1_ENST00000605057.1_Missense_Mutation_p.R404M	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	462					apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding			breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		TAATAGCTCCCTGGTGTCAGC	0.502													7	71					5.18039e-06	5.88187e-06	1	1	0	A	23549333	C	A	23549333	3	1	81	1	0	0	0	0	1	0	0	0	142	681	24	4	2843	4	ACIN1	14	23549333	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	236	23549333	83800207	10397	14013											
CEBPE	1053	broad.mit.edu	37	14	23586947	23586947	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:23586947C>T	ENST00000206513.5	-	2	1119	c.595G>A	c.(595-597)Gca>Aca	p.A199T		NM_001805.3	NP_001796.2	Q15744	CEBPE_HUMAN	CCAAT/enhancer binding protein (C/EBP), epsilon	199						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)	9	all_cancers(95;4.6e-05)			GBM - Glioblastoma multiforme(265;0.0064)		TTGTTCACTGCCTTCTTGCCC	0.647													29	67					0	0	1	0	0	T	23586947	C	T	23586947	3	4	81	1	0	0	0	0	1	0	0	0	3224	739	26	2	254	2	CEBPE	14	23586947	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	37614	23586947	83762593	10398	14014											
CEBPE	1053	broad.mit.edu	37	14	23587828	23587828	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:23587828G>A	ENST00000206513.5	-	1	997	c.473C>T	c.(472-474)aCt>aTt	p.T158I		NM_001805.3	NP_001796.2	Q15744	CEBPE_HUMAN	CCAAT/enhancer binding protein (C/EBP), epsilon	158						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)	9	all_cancers(95;4.6e-05)			GBM - Glioblastoma multiforme(265;0.0064)		TGCTGCCAGAGTTGGGGGCAG	0.682													3	13					0	0	1	0	0	A	23587828	G	A	23587828	3	1	81	1	0	0	0	0	1	0	0	0	3224	1029	36	2	380	2	CEBPE	14	23587828	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	881	23587828	83761712	10399	14015											
CEBPE	1053	broad.mit.edu	37	14	23588171	23588171	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:23588171C>T	ENST00000206513.5	-	1	654	c.130G>A	c.(130-132)Gcc>Acc	p.A44T		NM_001805.3	NP_001796.2	Q15744	CEBPE_HUMAN	CCAAT/enhancer binding protein (C/EBP), epsilon	44						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)	9	all_cancers(95;4.6e-05)			GBM - Glioblastoma multiforme(265;0.0064)		TCGATGTAGGCGGAGAGGTCA	0.662													17	32					0	0	1	0	0	T	23588171	C	T	23588171	3	4	81	1	0	0	0	0	1	0	0	0	3224	768	27	1	723	1	CEBPE	14	23588171	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	343	23588171	83761369	10400	14016											
PABPN1	8106	broad.mit.edu	37	14	23793493	23793493	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:23793493C>A	ENST00000397276.2	+	6	889	c.876C>A	c.(874-876)gtC>gtA	p.V292V	BCL2L2-PABPN1_ENST00000553781.1_Silent_p.V319V|PABPN1_ENST00000556821.1_Silent_p.V164V|BCL2L2-PABPN1_ENST00000557008.1_Silent_p.V319V|PABPN1_ENST00000216727.4_Silent_p.V292V|PABPN1_ENST00000557702.1_Silent_p.V164V					poly(A) binding protein, nuclear 1											large_intestine(1)|lung(1)|ovary(2)	4	all_cancers(95;6.69e-06)			GBM - Glioblastoma multiforme(265;0.00643)		GGGGTCGCGTCTACAGGTCAG	0.637													15	55					5.01169e-05	5.55051e-05	1	1	0	A	23793493	C	A	23793493	2	1	81	1	0	0	0	0	0	0	0	1	11415	900	32	4		4	PABPN1	14	23793493	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	205322	23793493	83556047	10401	14017											
SLC22A17	51310	broad.mit.edu	37	14	23818480	23818480	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:23818480C>T	ENST00000354772.3	-	4	1030		c.e4+1		SLC22A17_ENST00000397260.3_Splice_Site|SLC22A17_ENST00000206544.8_Splice_Site|SLC22A17_ENST00000474057.1_Splice_Site|SLC22A17_ENST00000397267.1_Splice_Site	NM_016609.3	NP_057693.3	Q8WUG5	S22AH_HUMAN	solute carrier family 22, member 17						siderophore transport	integral to organelle membrane|integral to plasma membrane|vacuolar membrane	transmembrane receptor activity|transmembrane transporter activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15	all_cancers(95;7.12e-06)			GBM - Glioblastoma multiforme(265;0.00643)		GTGCCACTTACGCATCAGGTA	0.617													23	42					0	0	1	0	0	T	23818480	C	T	23818480	5	4	81	1	0	0	0	0	0	0	1	0	14503	550	19	1	1117	1	SLC22A17	14	23818480	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	24987	23818480	83531060	10402	14018											
CMTM5	116173	broad.mit.edu	37	14	23848328	23848328	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:23848328C>T	ENST00000359320.3	+	3	812	c.368C>T	c.(367-369)gCt>gTt	p.A123V	CMTM5_ENST00000339180.4_Missense_Mutation_p.A190V|CMTM5_ENST00000555731.1_Missense_Mutation_p.A85V|CMTM5_ENST00000397227.3_Missense_Mutation_p.A72V|CMTM5_ENST00000382809.2_Intron|CMTM5_ENST00000342473.4_Intron	NM_138460.2	NP_612469.1	Q96DZ9	CKLF5_HUMAN	CKLF-like MARVEL transmembrane domain containing 5	190	MARVEL.				chemotaxis	extracellular space|integral to membrane	cytokine activity			endometrium(1)|large_intestine(1)|lung(4)|prostate(1)|stomach(1)	8	all_cancers(95;2e-05)			GBM - Glioblastoma multiforme(265;0.0064)|READ - Rectum adenocarcinoma(4;0.0276)|Colorectal(4;0.0382)		GCCATTGCTGCTTTTGTGAGT	0.582													20	23					0	0	1	0	0	T	23848328	C	T	23848328	3	4	81	1	0	0	0	0	1	0	0	0	3609	797	28	2	378	2	CMTM5	14	23848328	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	29848	23848328	83501212	10403	14019											
MYH6	4624	broad.mit.edu	37	14	23871975	23871975	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:23871975G>A	ENST00000405093.3	-	11	1003	c.933C>T	c.(931-933)taC>taT	p.Y311Y	MYH6_ENST00000356287.3_Silent_p.Y311Y	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	311	Myosin head-like.				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		ACACGAAGGCGTAGTCGTAGG	0.642													8	18					0	0	1	0	0	A	23871975	G	A	23871975	2	1	81	1	0	0	0	0	0	0	0	1	10086	1140	40	1		1	MYH6	14	23871975	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	23647	23871975	83477565	10404	14020											
MYH7	4625	broad.mit.edu	37	14	23884263	23884263	+	Missense_Mutation	SNP	C	C	T	rs143362532		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:23884263C>T	ENST00000355349.3	-	37	5662	c.5500G>A	c.(5500-5502)Gca>Aca	p.A1834T		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1834					adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		ACCGACTCTGCGTTGCGCTTC	0.647													34	90					0	0	1	0	0	T	23884263	C	T	23884263	3	4	81	1	0	0	0	0	1	0	0	0	10087	768	27	1	323	1	MYH7	14	23884263	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	12288	23884263	83465277	10405	14021											
MYH7	4625	broad.mit.edu	37	14	23892915	23892915	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:23892915C>A	ENST00000355349.3	-	24	3102	c.2940G>T	c.(2938-2940)gaG>gaT	p.E980D		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	980					adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		CAGCCATCTCCTCTGTCAGGT	0.552													6	131					0.00116845	0.00124301	1	1	0	A	23892915	C	A	23892915	3	1	81	1	0	0	0	0	1	0	0	0	10087	680	24	4	2935	4	MYH7	14	23892915	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	8652	23892915	83456625	10406	14022											
MYH7	4625	broad.mit.edu	37	14	23893176	23893176	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:23893176G>A	ENST00000355349.3	-	23	3024	c.2862C>T	c.(2860-2862)atC>atT	p.I954I		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	954					adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		CCAGATCATCGATGTCCCTTT	0.537													40	41					0	0	1	0	0	A	23893176	G	A	23893176	2	1	81	1	0	0	0	0	0	0	0	1	10087	1048	37	1		1	MYH7	14	23893176	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	261	23893176	83456364	10407	14023											
MYH7	4625	broad.mit.edu	37	14	23893260	23893260	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:23893260C>T	ENST00000355349.3	-	23	2940	c.2778G>A	c.(2776-2778)ctG>ctA	p.L926L		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	926					adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		CCTCATCCTCCAGCCTCTCGT	0.517													36	52					0	0	1	0	0	T	23893260	C	T	23893260	2	4	81	1	0	0	0	0	0	0	0	1	10087	581	21	2		2	MYH7	14	23893260	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	84	23893260	83456280	10408	14024											
MYH7	4625	broad.mit.edu	37	14	23894044	23894044	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:23894044C>A	ENST00000355349.3	-	22	2775	c.2613G>T	c.(2611-2613)aaG>aaT	p.K871N		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	871					adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		CCTCCAGCTCCTTGCGGCGAG	0.587													5	47					1.23904e-05	1.39156e-05	1	1	0	A	23894044	C	A	23894044	3	1	81	1	0	0	0	0	1	0	0	0	10087	680	24	4	3270	4	MYH7	14	23894044	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	784	23894044	83455496	10409	14025											
MYH7	4625	broad.mit.edu	37	14	23894525	23894525	+	Missense_Mutation	SNP	C	C	T	rs3218716	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:23894525C>T	ENST00000355349.3	-	21	2551	c.2389G>A	c.(2389-2391)Gcc>Acc	p.A797T		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	797	IQ.		A -> T (in CMH1; dbSNP:rs3218716).		adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		TCCATTCTGGCGAGCACACCT	0.597													19	28					0	0	1	0	0	T	23894525	C	T	23894525	3	4	81	1	0	0	0	0	1	0	0	0	10087	768	27	1	3498	1	MYH7	14	23894525	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	481	23894525	83455015	10410	14026											
MYH7	4625	broad.mit.edu	37	14	23897873	23897873	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:23897873T>C	ENST00000355349.3	-	15	1576	c.1414A>G	c.(1414-1416)Agc>Ggc	p.S472G		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	472	Myosin head-like.				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		TGCTCAAAGCTGTTGAACTGC	0.582													11	17					0	0	1	0	0	C	23897873	T	C	23897873	3	2	81	1	0	0	0	0	1	0	0	0	10087	1580	55	3	4497	3	MYH7	14	23897873	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	3348	23897873	83451667	10411	14027											
MYH7	4625	broad.mit.edu	37	14	23900677	23900677	+	Missense_Mutation	SNP	C	C	T	rs3218713		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:23900677C>T	ENST00000355349.3	-	9	908	c.746G>A	c.(745-747)cGa>cAa	p.R249Q		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	249	Myosin head-like.		R -> Q (in CMH1; dbSNP:rs3218713).		adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		AAAATGAATTCGAATGAATTT	0.507													48	81					0	0	1	0	0	T	23900677	C	T	23900677	3	4	81	1	0	0	0	0	1	0	0	0	10087	884	31	1	5189	1	MYH7	14	23900677	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2804	23900677	83448863	10412	14028											
THTPA	79178	broad.mit.edu	37	14	24026141	24026141	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:24026141G>T	ENST00000288014.6	+	1	911	c.175G>T	c.(175-177)Gat>Tat	p.D59Y	RP11-66N24.4_ENST00000556354.1_RNA|RP11-66N24.4_ENST00000553985.1_RNA|THTPA_ENST00000556015.1_Missense_Mutation_p.D59Y|THTPA_ENST00000554789.1_Missense_Mutation_p.D59Y|THTPA_ENST00000554970.1_Missense_Mutation_p.D59Y|THTPA_ENST00000404535.3_Missense_Mutation_p.D59Y|RP11-66N24.4_ENST00000555446.1_RNA			Q9BU02	THTPA_HUMAN	thiamine triphosphatase	59					dephosphorylation|generation of precursor metabolites and energy|thiamine metabolic process	cytosol|nucleolus|soluble fraction	thiamin-triphosphatase activity			large_intestine(1)|prostate(2)	3	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00643)	Thiamine(DB00152)	ACGACGAGAGGATAGTGGATG	0.582													5	18					5.9392e-07	6.87481e-07	1	1	0	T	24026141	G	T	24026141	3	4	81	1	0	0	0	0	1	0	0	0	15941	1174	41	5	177	5	THTPA	14	24026141	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	125464	24026141	83323399	10413	14029											
THTPA	79178	broad.mit.edu	37	14	24026216	24026216	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:24026216G>A	ENST00000288014.6	+	1	986	c.250G>A	c.(250-252)Gcg>Acg	p.A84T	RP11-66N24.4_ENST00000556354.1_RNA|RP11-66N24.4_ENST00000553985.1_RNA|THTPA_ENST00000556015.1_Missense_Mutation_p.A84T|THTPA_ENST00000554789.1_Missense_Mutation_p.A84T|THTPA_ENST00000554970.1_Missense_Mutation_p.A84T|THTPA_ENST00000404535.3_Missense_Mutation_p.A84T|RP11-66N24.4_ENST00000555446.1_RNA			Q9BU02	THTPA_HUMAN	thiamine triphosphatase	84					dephosphorylation|generation of precursor metabolites and energy|thiamine metabolic process	cytosol|nucleolus|soluble fraction	thiamin-triphosphatase activity			large_intestine(1)|prostate(2)	3	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00643)	Thiamine(DB00152)	GGAACTCACAGCGGAACCTAC	0.602													19	37					0	0	1	0	0	A	24026216	G	A	24026216	3	1	81	1	0	0	0	0	1	0	0	0	15941	971	34	2	252	2	THTPA	14	24026216	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	75	24026216	83323324	10414	14030											
AP1G2	8906	broad.mit.edu	37	14	24031799	24031799	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:24031799G>A	ENST00000308724.5	-	14	2169	c.1414C>T	c.(1414-1416)Cca>Tca	p.P472S	AP1G2_ENST00000397120.3_Missense_Mutation_p.P472S|RP11-66N24.3_ENST00000555968.1_RNA	NM_003917.2	NP_003908.1	O75843	AP1G2_HUMAN	adaptor-related protein complex 1, gamma 2 subunit	472					interspecies interaction between organisms|intracellular protein transport|vesicle-mediated transport	AP-1 adaptor complex|endosome membrane	protein binding|protein transporter activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	28	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00672)		TGCACCAGTGGTTGCTACATG	0.592											OREG0022605	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	11					0	0	1	0	0	A	24031799	G	A	24031799	3	1	81	1	0	0	0	0	1	0	0	0	729	1261	44	2	975	2	AP1G2	14	24031799	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	5583	24031799	83317741	10415	14031											
AP1G2	8906	broad.mit.edu	37	14	24034396	24034396	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:24034396G>A	ENST00000308724.5	-	7	1509	c.754C>T	c.(754-756)Cgt>Tgt	p.R252C	AP1G2_ENST00000397120.3_Missense_Mutation_p.R252C|AP1G2_ENST00000556277.1_5'UTR|RP11-66N24.3_ENST00000555968.1_RNA	NM_003917.2	NP_003908.1	O75843	AP1G2_HUMAN	adaptor-related protein complex 1, gamma 2 subunit	252					interspecies interaction between organisms|intracellular protein transport|vesicle-mediated transport	AP-1 adaptor complex|endosome membrane	protein binding|protein transporter activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	28	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00672)		CGAAGCAGACGAAGTATCTGG	0.557													8	21					0	0	1	0	0	A	24034396	G	A	24034396	3	1	81	1	0	0	0	0	1	0	0	0	729	1058	37	1	1663	1	AP1G2	14	24034396	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2597	24034396	83315144	10416	14032											
DHRS2	10202	broad.mit.edu	37	14	24109024	24109024	+	Missense_Mutation	SNP	G	G	A	rs146408773		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:24109024G>A	ENST00000250383.6	+	4	816	c.340G>A	c.(340-342)Gtc>Atc	p.V114I	DHRS2_ENST00000553896.1_3'UTR|DHRS2_ENST00000344777.7_Missense_Mutation_p.V114I	NM_005794.3	NP_005785.1	Q13268	DHRS2_HUMAN	dehydrogenase/reductase (SDR family) member 2	92					C21-steroid hormone metabolic process|cellular response to oxidative stress|myeloid dendritic cell differentiation|negative regulation of apoptosis|negative regulation of cell proliferation|response to toxin	mitochondrion|nuclear envelope	binding|carbonyl reductase (NADPH) activity			endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14				GBM - Glioblastoma multiforme(265;0.00659)		CTGTGGGGGCGTCGACTTCCT	0.642													13	27					0	0	1	0	0	A	24109024	G	A	24109024	3	1	81	1	0	0	0	0	1	0	0	0	4518	1145	40	1	350	1	DHRS2	14	24109024	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	74628	24109024	83240516	10417	14033											
LRRC16B	90668	broad.mit.edu	37	14	24528897	24528897	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:24528897T>C	ENST00000342740.5	+	22	1978	c.1824T>C	c.(1822-1824)aaT>aaC	p.N608N	LRRC16B_ENST00000334420.7_5'UTR	NM_138360.3	NP_612369.3	Q8ND23	LR16B_HUMAN	leucine rich repeat containing 16B	608										breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	52				GBM - Glioblastoma multiforme(265;0.019)		ATCGGAACAATACATCTGCCC	0.592													8	25					0	0	1	0	0	C	24528897	T	C	24528897	2	2	81	1	0	0	0	0	0	0	0	1	9017	1403	49	3		3	LRRC16B	14	24528897	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	419873	24528897	82820643	10418	14034											
PCK2	5106	broad.mit.edu	37	14	24569430	24569430	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:24569430C>T	ENST00000396973.4	+	7	1489	c.1242C>T	c.(1240-1242)tgC>tgT	p.C414C	NRL_ENST00000561028.1_Intron|PCK2_ENST00000216780.4_Intron|PCK2_ENST00000559250.1_Intron|PCK2_ENST00000561286.1_Intron|PCK2_ENST00000558096.1_Intron|PCK2_ENST00000545054.2_Intron	NM_001018073.1	NP_001018083.1	Q16822	PCKGM_HUMAN	phosphoenolpyruvate carboxykinase 2 (mitochondrial)	0					gluconeogenesis	mitochondrial matrix	GTP binding|metal ion binding|phosphoenolpyruvate carboxykinase (GTP) activity			breast(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	18				GBM - Glioblastoma multiforme(265;0.0184)		CTGGTATGTGCGGTGGGGAAG	0.577													7	17					0	0	1	0	0	T	24569430	C	T	24569430	2	4	81	1	0	0	0	0	0	0	0	1	11629	776	27	1		1	PCK2	14	24569430	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	40533	24569430	82780110	10419	14035											
DCAF11	80344	broad.mit.edu	37	14	24588928	24588928	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:24588928C>A	ENST00000446197.3	+	11	1642	c.915C>A	c.(913-915)tcC>tcA	p.S305S	DCAF11_ENST00000396941.4_Silent_p.S279S|DCAF11_ENST00000396936.1_Silent_p.S205S|DCAF11_ENST00000559115.1_Silent_p.S305S	NM_025230.4	NP_079506.3	Q8TEB1	DCA11_HUMAN	DDB1 and CUL4 associated factor 11	305						CUL4 RING ubiquitin ligase complex	protein binding										AGATTGAGTCCCATGAGGATG	0.483													21	41					5.35356e-11	6.60132e-11	1	1	0	A	24588928	C	A	24588928	2	1	81	1	0	0	0	0	0	0	0	1	4286	610	22	5		5	DCAF11	14	24588928	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	19498	24588928	82760612	10420	14036											
FITM1	161247	broad.mit.edu	37	14	24600812	24600812	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:24600812G>A	ENST00000267426.5	+	1	329	c.40G>A	c.(40-42)Ggg>Agg	p.G14R	RP11-468E2.6_ENST00000558325.1_Missense_Mutation_p.R201Q	NM_203402.2	NP_981947.1	A5D6W6	FITM1_HUMAN	fat storage-inducing transmembrane protein 1	14					lipid particle organization|positive regulation of sequestering of triglyceride	endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	11						actgggggccggggcCCGAAT	0.677													3	5					0	0	1	0	0	A	24600812	G	A	24600812	3	1	81	1	0	0	0	0	1	0	0	0	5931	1116	39	1	42	1	FITM1	14	24600812	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	11884	24600812	82748728	10421	14037											
FITM1	161247	broad.mit.edu	37	14	24601453	24601453	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:24601453C>G	ENST00000267426.5	+	2	589	c.300C>G	c.(298-300)tgC>tgG	p.C100W	FITM1_ENST00000559294.1_5'UTR	NM_203402.2	NP_981947.1	A5D6W6	FITM1_HUMAN	fat storage-inducing transmembrane protein 1	100					lipid particle organization|positive regulation of sequestering of triglyceride	endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	11						GCTGGACATGCACTTTCTTAG	0.567													23	47					0	0	1	0	0	G	24601453	C	G	24601453	3	3	81	1	0	0	0	0	1	0	0	0	5931	718	25	5	306	5	FITM1	14	24601453	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	641	24601453	82748087	10422	14038											
IRF9	10379	broad.mit.edu	37	14	24620580	24620580	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:24620580C>T	ENST00000558468.1	+	1	154	c.154C>T	c.(154-156)Cga>Tga	p.R52*	RNF31_ENST00000382687.3_Nonsense_Mutation_p.R426*|RNF31_ENST00000559275.1_Nonsense_Mutation_p.R426*|RNF31_ENST00000324103.6_Nonsense_Mutation_p.R577*																							GAGGACCAGGCGAAGGAAGGT	0.577													15	15					0	0	1	0	0	T	24620580	C	T	24620580	4	4	81	1	0	0	0	0	0	1	0	0	7881	760	27	1		1	IRF9	14	24620580	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	19127	24620580	82728960	10423	14039											
IRF9	10379	broad.mit.edu	37	14	24621172	24621172	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:24621172G>A	ENST00000558468.1	+	3	526	c.526G>A	c.(526-528)Gtg>Atg	p.V176M	RNF31_ENST00000382687.3_Missense_Mutation_p.V550M|RNF31_ENST00000559275.1_Missense_Mutation_p.V550M|RNF31_ENST00000324103.6_Missense_Mutation_p.V701M																							GGAGTGTGCCGTGTGTGGCTG	0.602													11	22					0	0	1	0	0	A	24621172	G	A	24621172	3	1	81	1	0	0	0	0	1	0	0	0	7881	1145	40	1		1	IRF9	14	24621172	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	592	24621172	82728368	10424	14040											
IRF9	10379	broad.mit.edu	37	14	24626551	24626551	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:24626551G>T	ENST00000558468.1	+	7	971	c.971G>T	c.(970-972)cGc>cTc	p.R324L	RNF31_ENST00000382687.3_Missense_Mutation_p.R698L|RNF31_ENST00000559275.1_Missense_Mutation_p.R698L|RNF31_ENST00000324103.6_Missense_Mutation_p.R849L																							AACTGGAAACGCATGAACGAC	0.562													9	28					0.00448238	0.00470627	1	1	0	T	24626551	G	T	24626551	3	4	81	1	0	0	0	0	1	0	0	0	7881	1087	38	5		5	IRF9	14	24626551	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	5379	24626551	82722989	10425	14041											
IRF9	10379	broad.mit.edu	37	14	24632221	24632221	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:24632221G>A	ENST00000396864.3	+	3	514	c.227G>A	c.(226-228)gGt>gAt	p.G76D	IRF9_ENST00000557894.1_5'UTR|RP11-468E2.4_ENST00000558468.1_3'UTR	NM_006084.4	NP_006075.3	Q00978	IRF9_HUMAN	interferon regulatory factor 9	76					interferon-gamma-mediated signaling pathway|response to virus|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytosol|nucleoplasm	DNA binding|identical protein binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	16				GBM - Glioblastoma multiforme(265;0.00853)		GACACAGGAGGTCCAGCTGTC	0.537													16	20					0	0	1	0	0	A	24632221	G	A	24632221	3	1	81	1	0	0	0	0	1	0	0	0	7881	1261	44	2	233	2	IRF9	14	24632221	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	5670	24632221	82717319	10426	14042											
IRF9	10379	broad.mit.edu	37	14	24633164	24633164	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:24633164G>T	ENST00000396864.3	+	5	860	c.573G>T	c.(571-573)caG>caT	p.Q191H	IRF9_ENST00000557894.1_Missense_Mutation_p.Q89H|RP11-468E2.4_ENST00000558468.1_3'UTR	NM_006084.4	NP_006075.3	Q00978	IRF9_HUMAN	interferon regulatory factor 9	191					interferon-gamma-mediated signaling pathway|response to virus|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytosol|nucleoplasm	DNA binding|identical protein binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	16				GBM - Glioblastoma multiforme(265;0.00853)		CTGAGCCACAGGAAGGTACCA	0.607													8	61					0.00448238	0.00470627	1	1	0	T	24633164	G	T	24633164	3	4	81	1	0	0	0	0	1	0	0	0	7881	991	35	4	587	4	IRF9	14	24633164	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	943	24633164	82716376	10427	14043											
REC8	9985	broad.mit.edu	37	14	24647340	24647340	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:24647340G>A	ENST00000311457.3	+	13	1504	c.905G>A	c.(904-906)cGc>cAc	p.R302H	REC8_ENST00000559919.1_Missense_Mutation_p.R302H			O95072	REC8_HUMAN	REC8 meiotic recombination protein	303	Glu-rich.				mitotic metaphase/anaphase transition|mitotic prometaphase|reciprocal meiotic recombination|sister chromatid cohesion	nucleoplasm				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15				GBM - Glioblastoma multiforme(265;0.00839)		CGCCGTCGTCGCCGGTTACTG	0.612													22	25					0	0	1	0	0	A	24647340	G	A	24647340	3	1	81	1	0	0	0	0	1	0	0	0	13251	1087	38	1	951	1	REC8	14	24647340	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	14176	24647340	82702200	10428	14044											
REC8	9985	broad.mit.edu	37	14	24649283	24649283	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:24649283G>A	ENST00000311457.3	+	20	2222	c.1623G>A	c.(1621-1623)ccG>ccA	p.P541P	REC8_ENST00000559919.1_Silent_p.P541P|REC8_ENST00000559939.1_3'UTR			O95072	REC8_HUMAN	REC8 meiotic recombination protein	542					mitotic metaphase/anaphase transition|mitotic prometaphase|reciprocal meiotic recombination|sister chromatid cohesion	nucleoplasm				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15				GBM - Glioblastoma multiforme(265;0.00839)		TGATCCAGCCGGGGCCCAGAT	0.557													26	49					0	0	1	0	0	A	24649283	G	A	24649283	2	1	81	1	0	0	0	0	0	0	0	1	13251	1103	39	1		1	REC8	14	24649283	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1943	24649283	82700257	10429	14045											
IPO4	79711	broad.mit.edu	37	14	24656974	24656974	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:24656974G>A	ENST00000354464.6	-	5	483	c.307C>T	c.(307-309)Ctc>Ttc	p.L103F	RP11-468E2.2_ENST00000561419.1_3'UTR	NM_024658.3	NP_078934.3	Q8TEX9	IPO4_HUMAN	importin 4	103					intracellular protein transport	cytoplasm|nucleus	protein binding|protein transporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|stomach(2)|urinary_tract(1)	33				GBM - Glioblastoma multiforme(265;0.0087)		GTGGCTGAGAGCTGGGCCAGG	0.572													17	31					0	0	1	0	0	A	24656974	G	A	24656974	3	1	81	1	0	0	0	0	1	0	0	0	7839	971	34	2	3042	2	IPO4	14	24656974	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	7691	24656974	82692566	10430	14046											
MDP1	145553	broad.mit.edu	37	14	24683347	24683347	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:24683347G>A	ENST00000396833.2	-	5	383	c.274C>T	c.(274-276)Cat>Tat	p.H92Y	AL136419.6_ENST00000565988.1_RNA|MDP1_ENST00000532557.1_5'UTR|NEDD8-MDP1_ENST00000534348.1_Silent_p.C155C|MDP1_ENST00000288087.7_Silent_p.C138C	NM_001199821.1	NP_001186750.1			magnesium-dependent phosphatase 1											breast(2)|large_intestine(2)|lung(3)	7						GGATGTGAATGCAGGTAACAC	0.433													12	102					0	0	1	0	0	A	24683347	G	A	24683347	3	1	81	1	0	0	0	0	1	0	0	0	9466	1311	46	2	120	2	MDP1	14	24683347	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	26373	24683347	82666193	10431	14047											
GMPR2	51292	broad.mit.edu	37	14	24705324	24705324	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:24705324G>A	ENST00000557854.1	+	4	774	c.497G>A	c.(496-498)cGc>cAc	p.R166H	GMPR2_ENST00000559104.1_Intron|GMPR2_ENST00000559836.1_Missense_Mutation_p.R148H|GMPR2_ENST00000420554.2_Missense_Mutation_p.R166H|GMPR2_ENST00000355299.4_Missense_Mutation_p.R148H|GMPR2_ENST00000399440.2_Missense_Mutation_p.R148H|GMPR2_ENST00000559910.1_Intron|GMPR2_ENST00000456667.3_Missense_Mutation_p.R120H|GMPR2_ENST00000348719.7_Missense_Mutation_p.R148H	NM_001283022.1	NP_001269951.1	Q9P2T1	GMPR2_HUMAN	guanosine monophosphate reductase 2	148					nucleotide metabolic process|purine base metabolic process|purine-containing compound salvage	cytosol	GMP reductase activity|metal ion binding			large_intestine(4)|lung(3)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	12				GBM - Glioblastoma multiforme(265;0.0181)		GTACGGAAGCGCTTCCCCCAG	0.438													36	60					0	0	1	0	0	A	24705324	G	A	24705324	3	1	81	1	0	0	0	0	1	0	0	0	6539	1087	38	1	511	1	GMPR2	14	24705324	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	21977	24705324	82644216	10432	14048											
TINF2	26277	broad.mit.edu	37	14	24709323	24709324	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:24709323_24709324insA	ENST00000267415.7	-	8	1508_1509	c.1167_1168insT	c.(1165-1170)atagggfs	p.G390fs	TINF2_ENST00000538777.1_3'UTR|TINF2_ENST00000540705.1_Frame_Shift_Ins_p.G355fs|TINF2_ENST00000558566.1_3'UTR|TINF2_ENST00000399423.4_3'UTR	NM_001099274.1	NP_001092744.1	Q9BSI4	TINF2_HUMAN	TERF1 (TRF1)-interacting nuclear factor 2	390					negative regulation of epithelial cell proliferation|negative regulation of protein ADP-ribosylation|negative regulation of telomere maintenance via telomerase|positive regulation of telomere maintenance|protein localization to chromosome, telomeric region|telomere assembly|telomere maintenance via telomere lengthening	nuclear telomere cap complex|nucleoplasm|perinucleolar chromocenter	protein binding|telomeric DNA binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|prostate(1)|urinary_tract(1)	7				GBM - Glioblastoma multiforme(265;0.0185)		ACCAAGTCCCCTATGGTAATGA	0.5									Congenital Dyskeratosis;Ataxia Pancytopenia syndrome				33	331	---	---	---	---						A	24709324	-	A	24709323	7	5	81	1	0	1	1	0	0	0	0	0	15983	681	24	0	195	0	TINF2	14	24709323	Frame_Shift_Ins	INS	-	TCGA-DU-6392-01A-11D-1705-08	3999	24709323	82640217	10433	14049											
RABGGTA	5875	broad.mit.edu	37	14	24737353	24737353	+	Translation_Start_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:24737353G>T	ENST00000560777.1	-	0	555				RABGGTA_ENST00000216840.6_Silent_p.S370S|RABGGTA_ENST00000399409.3_Silent_p.S370S			Q92696	PGTA_HUMAN	Rab geranylgeranyltransferase, alpha subunit						visual perception		Rab geranylgeranyltransferase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)	12				GBM - Glioblastoma multiforme(265;0.0184)		GCTCCTTACAGGATTCCAGCT	0.592													9	48					1.76689e-08	2.10148e-08	1	1	0	T	24737353	G	T	24737353	1	4	81	1	0	0	0	0	0	0	0	0	13019	987	35	4		4	RABGGTA	14	24737353	Translation_Start_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	28030	24737353	82612187	10434	14050											
LTB4R2	56413	broad.mit.edu	37	14	24780618	24780618	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:24780618G>A	ENST00000528054.1	+	1	2458	c.841G>A	c.(841-843)Gca>Aca	p.A281T	CIDEB_ENST00000555817.1_5'UTR|LTB4R2_ENST00000543919.1_Missense_Mutation_p.A250T|LTB4R2_ENST00000533293.1_Missense_Mutation_p.A250T|CIDEB_ENST00000258807.5_5'UTR			Q9NPC1	LT4R2_HUMAN	leukotriene B4 receptor 2	281					chemotaxis|negative regulation of adenylate cyclase activity	integral to plasma membrane				endometrium(1)|lung(1)|ovary(1)	3				GBM - Glioblastoma multiforme(265;0.018)		GCAGGCGGTCGCAGCGCTGGC	0.711													10	15					0	0	1	0	0	A	24780618	G	A	24780618	3	1	81	1	0	0	0	0	1	0	0	0	9117	1087	38	1	750	1	LTB4R2	14	24780618	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	43265	24780618	82568922	10435	14051											
LTB4R	1241	broad.mit.edu	37	14	24785242	24785242	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:24785242C>T	ENST00000396789.4	+	2	2110	c.385C>T	c.(385-387)Cgc>Tgc	p.R129C	LTB4R_ENST00000396782.2_Missense_Mutation_p.R129C|LTB4R_ENST00000345363.3_Missense_Mutation_p.R129C	NM_181657.3	NP_858043.1	Q15722	LT4R1_HUMAN	leukotriene B4 receptor	129					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular component movement|immune response|inflammatory response|muscle contraction	integral to plasma membrane	nucleotide binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|stomach(1)	8				GBM - Glioblastoma multiforme(265;0.018)		CCAGAAGCTACGCACCAAGGC	0.637													5	34					0	0	1	0	0	T	24785242	C	T	24785242	3	4	81	1	0	0	0	0	1	0	0	0	9116	536	19	1	387	1	LTB4R	14	24785242	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	4624	24785242	82564298	10436	14052											
ADCY4	196883	broad.mit.edu	37	14	24798658	24798658	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:24798658G>A	ENST00000310677.4	-	10	1412	c.1299C>T	c.(1297-1299)gaC>gaT	p.D433D	ADCY4_ENST00000396747.3_Silent_p.D126D|ADCY4_ENST00000554068.2_Silent_p.D433D|ADCY4_ENST00000418030.2_Silent_p.D433D	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	433					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding|protein binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(265;0.0192)		GAAGGTAGGGGTCCCGATGCT	0.632													14	38					0	0	1	0	0	A	24798658	G	A	24798658	2	1	81	1	0	0	0	0	0	0	0	1	295	1252	44	2		2	ADCY4	14	24798658	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	13416	24798658	82550882	10437	14053											
ADCY4	196883	broad.mit.edu	37	14	24798711	24798711	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:24798711C>T	ENST00000310677.4	-	10	1359	c.1246G>A	c.(1246-1248)Gcc>Acc	p.A416T	ADCY4_ENST00000396747.3_Missense_Mutation_p.A109T|ADCY4_ENST00000554068.2_Missense_Mutation_p.A416T|ADCY4_ENST00000418030.2_Missense_Mutation_p.A416T	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	416					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding|protein binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(265;0.0192)		GCCAGCAGGGCCAGGGTAGCC	0.627													19	24					0	0	1	0	0	T	24798711	C	T	24798711	3	4	81	1	0	0	0	0	1	0	0	0	295	739	26	2	2055	2	ADCY4	14	24798711	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	53	24798711	82550829	10438	14054											
NFATC4	4776	broad.mit.edu	37	14	24839159	24839159	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:24839159C>T	ENST00000413692.2	+	3	888	c.744C>T	c.(742-744)gcC>gcT	p.A248A	NFATC4_ENST00000539237.2_Silent_p.A217A|NFATC4_ENST00000556169.1_Silent_p.A173A|NFATC4_ENST00000554661.1_Silent_p.A115A|NFATC4_ENST00000553879.1_Silent_p.A115A|NFATC4_ENST00000557451.1_Silent_p.A115A|NFATC4_ENST00000554050.1_Silent_p.A185A|NFATC4_ENST00000555590.1_Silent_p.A198A|NFATC4_ENST00000554591.1_Silent_p.A248A|NFATC4_ENST00000422617.3_Silent_p.A173A|NFATC4_ENST00000554966.1_Silent_p.A198A|NFATC4_ENST00000556279.1_Silent_p.A217A|NFATC4_ENST00000554344.1_Silent_p.A115A|NFATC4_ENST00000440487.2_3'UTR|NFATC4_ENST00000555453.1_Silent_p.A173A|NFATC4_ENST00000553469.1_Silent_p.A217A|NFATC4_ENST00000250373.4_Silent_p.A185A|NFATC4_ENST00000424781.2_Silent_p.A198A|NFATC4_ENST00000553708.1_Silent_p.A185A	NM_001136022.1|NM_001198967.1	NP_001129494.1|NP_001185896.1	Q14934	NFAC4_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4	185	2 approximate SP repeats.|Pro-rich.				cell differentiation|inflammatory response|transcription from RNA polymerase II promoter	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2)	34				GBM - Glioblastoma multiforme(265;0.018)		TCTCCGATGCCTCTGACGAGG	0.672													10	17					0	0	1	0	0	T	24839159	C	T	24839159	2	4	81	1	0	0	0	0	0	0	0	1	10412	668	24	2		2	NFATC4	14	24839159	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	40448	24839159	82510381	10439	14055											
NFATC4	4776	broad.mit.edu	37	14	24839193	24839193	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:24839193G>A	ENST00000413692.2	+	3	922	c.778G>A	c.(778-780)Gag>Aag	p.E260K	NFATC4_ENST00000539237.2_Missense_Mutation_p.E229K|NFATC4_ENST00000556169.1_Missense_Mutation_p.E185K|NFATC4_ENST00000554661.1_Missense_Mutation_p.E127K|NFATC4_ENST00000553879.1_Missense_Mutation_p.E127K|NFATC4_ENST00000557451.1_Missense_Mutation_p.E127K|NFATC4_ENST00000554050.1_Missense_Mutation_p.E197K|NFATC4_ENST00000555590.1_Missense_Mutation_p.E210K|NFATC4_ENST00000554591.1_Missense_Mutation_p.E260K|NFATC4_ENST00000422617.3_Missense_Mutation_p.E185K|NFATC4_ENST00000554966.1_Missense_Mutation_p.E210K|NFATC4_ENST00000556279.1_Missense_Mutation_p.E229K|NFATC4_ENST00000554344.1_Missense_Mutation_p.E127K|NFATC4_ENST00000440487.2_3'UTR|NFATC4_ENST00000555453.1_Missense_Mutation_p.E185K|NFATC4_ENST00000553469.1_Missense_Mutation_p.E229K|NFATC4_ENST00000250373.4_Missense_Mutation_p.E197K|NFATC4_ENST00000424781.2_Missense_Mutation_p.E210K|NFATC4_ENST00000553708.1_Missense_Mutation_p.E197K	NM_001136022.1|NM_001198967.1	NP_001129494.1|NP_001185896.1	Q14934	NFAC4_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4	197	2 approximate SP repeats.|Pro-rich.				cell differentiation|inflammatory response|transcription from RNA polymerase II promoter	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2)	34				GBM - Glioblastoma multiforme(265;0.018)		AGCCTGCGACGAGGTGGAGTC	0.682													15	19					0	0	1	0	0	A	24839193	G	A	24839193	3	1	81	1	0	0	0	0	1	0	0	0	10412	1059	37	1	788	1	NFATC4	14	24839193	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	34	24839193	82510347	10440	14056											
NFATC4	4776	broad.mit.edu	37	14	24842950	24842950	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:24842950C>T	ENST00000413692.2	+	6	1942	c.1798C>T	c.(1798-1800)Cgg>Tgg	p.R600W	NFATC4_ENST00000539237.2_Missense_Mutation_p.R569W|NFATC4_ENST00000554473.1_Missense_Mutation_p.R72W|NFATC4_ENST00000556169.1_Missense_Mutation_p.R525W|NFATC4_ENST00000554661.1_Missense_Mutation_p.R467W|NFATC4_ENST00000553879.1_Missense_Mutation_p.R467W|NFATC4_ENST00000557451.1_Missense_Mutation_p.R467W|NFATC4_ENST00000554050.1_Missense_Mutation_p.R537W|NFATC4_ENST00000555590.1_Missense_Mutation_p.R550W|NFATC4_ENST00000554591.1_Missense_Mutation_p.R600W|NFATC4_ENST00000422617.3_Missense_Mutation_p.R525W|NFATC4_ENST00000554966.1_Missense_Mutation_p.R550W|NFATC4_ENST00000556279.1_Missense_Mutation_p.R569W|NFATC4_ENST00000554344.1_Missense_Mutation_p.R467W|NFATC4_ENST00000556759.1_Missense_Mutation_p.R72W|NFATC4_ENST00000555453.1_Missense_Mutation_p.R525W|NFATC4_ENST00000553469.1_Missense_Mutation_p.R569W|NFATC4_ENST00000250373.4_Missense_Mutation_p.R537W|NFATC4_ENST00000424781.2_Missense_Mutation_p.R550W|NFATC4_ENST00000553708.1_Missense_Mutation_p.R537W|NFATC4_ENST00000555167.1_Missense_Mutation_p.R72W	NM_001136022.1|NM_001198967.1	NP_001129494.1|NP_001185896.1	Q14934	NFAC4_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4	537	IPT/TIG.				cell differentiation|inflammatory response|transcription from RNA polymerase II promoter	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	p.R537R(1)|p.R600R(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2)	34				GBM - Glioblastoma multiforme(265;0.018)		CATTGAGCTTCGGAAGGGTGA	0.582													39	55					0	0	1	0	0	T	24842950	C	T	24842950	3	4	81	1	0	0	0	0	1	0	0	0	10412	875	31	1	1820	1	NFATC4	14	24842950	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3757	24842950	82506590	10441	14057											
NFATC4	4776	broad.mit.edu	37	14	24842970	24842970	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:24842970C>T	ENST00000413692.2	+	6	1962	c.1818C>T	c.(1816-1818)atC>atT	p.I606I	NFATC4_ENST00000539237.2_Silent_p.I575I|NFATC4_ENST00000554473.1_Silent_p.I78I|NFATC4_ENST00000556169.1_Silent_p.I531I|NFATC4_ENST00000554661.1_Silent_p.I473I|NFATC4_ENST00000553879.1_Silent_p.I473I|NFATC4_ENST00000557451.1_Silent_p.I473I|NFATC4_ENST00000554050.1_Silent_p.I543I|NFATC4_ENST00000555590.1_Silent_p.I556I|NFATC4_ENST00000554591.1_Silent_p.I606I|NFATC4_ENST00000422617.3_Silent_p.I531I|NFATC4_ENST00000554966.1_Silent_p.I556I|NFATC4_ENST00000556279.1_Silent_p.I575I|NFATC4_ENST00000554344.1_Silent_p.I473I|NFATC4_ENST00000556759.1_Silent_p.I78I|NFATC4_ENST00000555453.1_Silent_p.I531I|NFATC4_ENST00000553469.1_Silent_p.I575I|NFATC4_ENST00000250373.4_Silent_p.I543I|NFATC4_ENST00000424781.2_Silent_p.I556I|NFATC4_ENST00000553708.1_Silent_p.I543I|NFATC4_ENST00000555167.1_Silent_p.I78I	NM_001136022.1|NM_001198967.1	NP_001129494.1|NP_001185896.1	Q14934	NFAC4_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4	543	IPT/TIG.				cell differentiation|inflammatory response|transcription from RNA polymerase II promoter	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2)	34				GBM - Glioblastoma multiforme(265;0.018)		AGACGGACATCGGGCGCAAAA	0.597													33	47					0	0	1	0	0	T	24842970	C	T	24842970	2	4	81	1	0	0	0	0	0	0	0	1	10412	874	31	1		1	NFATC4	14	24842970	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	20	24842970	82506570	10442	14058											
NYNRIN	57523	broad.mit.edu	37	14	24884336	24884336	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:24884336C>T	ENST00000382554.3	+	9	3699	c.3381C>T	c.(3379-3381)gaC>gaT	p.D1127D		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	1127					DNA integration	integral to membrane	DNA binding			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						AGAAGCCTGACTGGCAGTGGG	0.627													12	16					0	0	1	0	0	T	24884336	C	T	24884336	2	4	81	1	0	0	0	0	0	0	0	1	10844	564	20	2		2	NYNRIN	14	24884336	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	41366	24884336	82465204	10443	14059											
CBLN3	643866	broad.mit.edu	37	14	24897069	24897069	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:24897069G>A	ENST00000267406.6	-	3	1014	c.544C>T	c.(544-546)Cgc>Tgc	p.R182C	CBLN3_ENST00000555436.1_Missense_Mutation_p.R131C	NM_001039771.2	NP_001034860.1	Q6UW01	CBLN3_HUMAN	cerebellin 3 precursor	182	C1q.|Necessary for interaction with CBLN3, and homotrimerization (By similarity).					cell junction|extracellular region|synapse				central_nervous_system(1)|lung(3)	4				GBM - Glioblastoma multiforme(265;0.00159)		CGACGCAGGCGCAGAGACACT	0.567													57	86					0	0	1	0	0	A	24897069	G	A	24897069	3	1	81	1	0	0	0	0	1	0	0	0	2724	1087	38	1	77	1	CBLN3	14	24897069	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	12733	24897069	82452471	10444	14060											
CBLN3	643866	broad.mit.edu	37	14	24897112	24897112	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:24897112G>A	ENST00000267406.6	-	3	971	c.501C>T	c.(499-501)agC>agT	p.S167S	CBLN3_ENST00000555436.1_Silent_p.S116S	NM_001039771.2	NP_001034860.1	Q6UW01	CBLN3_HUMAN	cerebellin 3 precursor	167	C1q.|Necessary for interaction with CBLN3, and homotrimerization (By similarity).					cell junction|extracellular region|synapse				central_nervous_system(1)|lung(3)	4				GBM - Glioblastoma multiforme(265;0.00159)		GTAGCACAGAGCTGGTGGCTG	0.602													44	56					0	0	1	0	0	A	24897112	G	A	24897112	2	1	81	1	0	0	0	0	0	0	0	1	2724	962	34	2		2	CBLN3	14	24897112	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	43	24897112	82452428	10445	14061											
KHNYN	23351	broad.mit.edu	37	14	24901675	24901675	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:24901675G>A	ENST00000251343.5	+	3	1347	c.1208G>A	c.(1207-1209)gGc>gAc	p.G403D	KHNYN_ENST00000556842.1_Missense_Mutation_p.G403D|KHNYN_ENST00000553935.1_Missense_Mutation_p.G403D			O15037	KHNYN_HUMAN	KH and NYN domain containing	403										kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(3)	24						TGGAAACGAGGCGCCCGAGGG	0.657											OREG0022627	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	15					0	0	1	0	0	A	24901675	G	A	24901675	3	1	81	1	0	0	0	0	1	0	0	0	8192	1203	42	2	1214	2	KHNYN	14	24901675	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	4563	24901675	82447865	10446	14062											
CMA1	1215	broad.mit.edu	37	14	24976590	24976590	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:24976590C>T	ENST00000250378.3	-	2	210	c.181G>A	c.(181-183)Gtg>Atg	p.V61M	RP11-80A15.1_ENST00000555109.1_Intron|CMA1_ENST00000206446.4_Intron	NM_001836.3	NP_001827.1	P23946	CMA1_HUMAN	chymase 1, mast cell	61	Peptidase S1.				interleukin-1 beta biosynthetic process|proteolysis	extracellular region	serine-type endopeptidase activity			kidney(1)|lung(8)|pancreas(1)|prostate(1)	11				GBM - Glioblastoma multiforme(265;0.0271)		GCCGTCAGCACAAAGTTCCGT	0.478													57	100					0	0	1	0	0	T	24976590	C	T	24976590	3	4	81	1	0	0	0	0	1	0	0	0	3597	478	17	2	578	2	CMA1	14	24976590	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	74915	24976590	82372950	10447	14063											
SCFD1	23256	broad.mit.edu	37	14	31139478	31139478	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:31139478G>T	ENST00000458591.2	+	11	1099	c.872G>T	c.(871-873)aGg>aTg	p.R291M	SCFD1_ENST00000421551.3_Missense_Mutation_p.R232M|SCFD1_ENST00000544052.2_Missense_Mutation_p.R224M|SCFD1_ENST00000396629.2_Missense_Mutation_p.R199M|SCFD1_ENST00000541123.1_Missense_Mutation_p.R106M	NM_016106.3	NP_057190.2	Q8WVM8	SCFD1_HUMAN	sec1 family domain containing 1	291					post-Golgi vesicle-mediated transport|protein transport|regulation of ER to Golgi vesicle-mediated transport|response to toxin|retrograde vesicle-mediated transport, Golgi to ER|vesicle docking involved in exocytosis	cis-Golgi network|endoplasmic reticulum membrane|Golgi cisterna membrane|Golgi-associated vesicle|plasma membrane	syntaxin-5 binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)	13	Hepatocellular(127;0.0877)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)	GBM - Glioblastoma multiforme(265;0.0181)		CATTTAAACAGGGTTAATTTG	0.333													13	210					7.03913e-09	8.42519e-09	1	1	0	T	31139478	G	T	31139478	3	4	81	1	0	0	0	0	1	0	0	0	13942	1000	35	4	914	4	SCFD1	14	31139478	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	6162888	31139478	76210062	10448	14064											
COCH	1690	broad.mit.edu	37	14	31354669	31354669	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:31354669A>G	ENST00000460581.2	+	8	1013	c.467A>G	c.(466-468)aAa>aGa	p.K156R	RP11-829H16.3_ENST00000555108.1_RNA|COCH_ENST00000216361.4_Missense_Mutation_p.K268R|COCH_ENST00000396618.3_Missense_Mutation_p.K268R|COCH_ENST00000475087.1_Missense_Mutation_p.K268R|COCH_ENST00000382493.4_Missense_Mutation_p.K119R			O43405	COCH_HUMAN	cochlin	268					sensory perception of sound	proteinaceous extracellular matrix				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|pancreas(1)|skin(3)	19	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.00645)		GGGATCCCCAAAGTGGTGGTG	0.418													5	93					0	0	1	0	0	G	31354669	A	G	31354669	3	3	81	1	0	0	0	0	1	0	0	0	3679	14	1	3	837	3	COCH	14	31354669	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	215191	31354669	75994871	10449	14065											
HECTD1	25831	broad.mit.edu	37	14	31597844	31597844	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:31597844A>G	ENST00000399332.1	-	25	5221	c.4733T>C	c.(4732-4734)tTg>tCg	p.L1578S	HECTD1_ENST00000553700.1_Missense_Mutation_p.L1578S	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	1578	Ser-rich.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		ATTCCTCCCCAAAGTATTAGT	0.443													8	64					0	0	1	0	0	G	31597844	A	G	31597844	3	3	81	1	0	0	0	0	1	0	0	0	7080	131	5	3	3175	3	HECTD1	14	31597844	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	243175	31597844	75751696	10450	14066											
HECTD1	25831	broad.mit.edu	37	14	31641315	31641315	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:31641315A>G	ENST00000399332.1	-	7	1658	c.1170T>C	c.(1168-1170)aaT>aaC	p.N390N	HECTD1_ENST00000553700.1_Silent_p.N390N	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	390					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		CATCCATAAAATTTACTTCAA	0.299													12	25					0	0	1	0	0	G	31641315	A	G	31641315	2	3	81	1	0	0	0	0	0	0	0	1	7080	98	4	3		3	HECTD1	14	31641315	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	43471	31641315	75708225	10451	14067											
HEATR5A	25938	broad.mit.edu	37	14	31858128	31858128	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:31858128C>A	ENST00000543095.2	-	7	1040	c.856G>T	c.(856-858)Gga>Tga	p.G286*	HEATR5A_ENST00000439348.1_Nonsense_Mutation_p.G280*|HEATR5A_ENST00000389961.3_Nonsense_Mutation_p.G280*|HEATR5A_ENST00000404677.3_Nonsense_Mutation_p.G286*|HEATR5A_ENST00000439727.1_De_novo_Start_OutOfFrame	NM_015473.3	NP_056288.2	Q86XA9	HTR5A_HUMAN	HEAT repeat containing 5A	280							binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)	26	Hepatocellular(127;0.0877)|Breast(36;0.137)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)		CGAAGGAATCCTGAACTCCCA	0.448													6	54					0.0215528	0.0221217	1	1	0	A	31858128	C	A	31858128	4	1	81	1	0	0	0	0	0	1	0	0	7072	696	24	4		4	HEATR5A	14	31858128	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	216813	31858128	75491412	10452	14068											
ARHGAP5	394	broad.mit.edu	37	14	32559922	32559922	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:32559922G>A	ENST00000345122.3	+	2	362	c.47G>A	c.(46-48)aGt>aAt	p.S16N	ARHGAP5_ENST00000539826.2_Missense_Mutation_p.S16N|ARHGAP5_ENST00000556611.1_Missense_Mutation_p.S16N|ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000433497.1_Intron|ARHGAP5_ENST00000432921.1_Missense_Mutation_p.S16N	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5	16					cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		TATACCATCAGTATAGTTGGA	0.393													45	67					0	0	1	0	0	A	32559922	G	A	32559922	3	1	81	1	0	0	0	0	1	0	0	0	883	1029	36	2	49	2	ARHGAP5	14	32559922	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	701794	32559922	74789618	10453	14069											
ARHGAP5	394	broad.mit.edu	37	14	32563100	32563100	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:32563100C>T	ENST00000345122.3	+	2	3540	c.3225C>T	c.(3223-3225)tcC>tcT	p.S1075S	ARHGAP5_ENST00000539826.2_Silent_p.S1075S|ARHGAP5_ENST00000556611.1_Silent_p.S1075S|ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000433497.1_Intron|ARHGAP5_ENST00000432921.1_Silent_p.S1075S	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5	1075					cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		AGCAGACTTCCCGGGTGCCTT	0.383													30	60					0	0	1	0	0	T	32563100	C	T	32563100	2	4	81	1	0	0	0	0	0	0	0	1	883	610	22	2		2	ARHGAP5	14	32563100	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3178	32563100	74786440	10454	14070											
AKAP6	9472	broad.mit.edu	37	14	33291101	33291101	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:33291101G>A	ENST00000280979.4	+	13	4252	c.4082G>A	c.(4081-4083)gGc>gAc	p.G1361D	AKAP6_ENST00000557272.1_Intron	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	1361					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		CAGAATTCAGGCAGTGAGAGT	0.458													27	50					0	0	1	0	0	A	33291101	G	A	33291101	3	1	81	1	0	0	0	0	1	0	0	0	452	1203	42	2	4128	2	AKAP6	14	33291101	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	728001	33291101	74058439	10455	14071											
AKAP6	9472	broad.mit.edu	37	14	33292223	33292223	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:33292223G>A	ENST00000280979.4	+	13	5374	c.5204G>A	c.(5203-5205)aGc>aAc	p.S1735N	AKAP6_ENST00000557272.1_Intron	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	1735					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		GTCAATGTCAGCATGATTGTT	0.473													19	72					0	0	1	0	0	A	33292223	G	A	33292223	3	1	81	1	0	0	0	0	1	0	0	0	452	971	34	2	5250	2	AKAP6	14	33292223	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1122	33292223	74057317	10456	14072											
AKAP6	9472	broad.mit.edu	37	14	33292407	33292407	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:33292407C>A	ENST00000280979.4	+	13	5558	c.5388C>A	c.(5386-5388)gaC>gaA	p.D1796E	AKAP6_ENST00000557272.1_Intron	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	1796					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		CAGGGCTAGACTACATAAAGA	0.403													26	36					1.17739e-12	1.47479e-12	1	1	0	A	33292407	C	A	33292407	3	1	81	1	0	0	0	0	1	0	0	0	452	564	20	4	5434	4	AKAP6	14	33292407	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	184	33292407	74057133	10457	14073											
AKAP6	9472	broad.mit.edu	37	14	33293146	33293146	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:33293146C>T	ENST00000280979.4	+	13	6297	c.6127C>T	c.(6127-6129)Cca>Tca	p.P2043S	AKAP6_ENST00000557272.1_Intron	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	2043					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		CAACTGTGAGCCAGATGTTTT	0.408													24	32					0	0	1	0	0	T	33293146	C	T	33293146	3	4	81	1	0	0	0	0	1	0	0	0	452	739	26	2	6173	2	AKAP6	14	33293146	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	739	33293146	74056394	10458	14074											
AKAP6	9472	broad.mit.edu	37	14	33293206	33293206	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:33293206A>G	ENST00000280979.4	+	13	6357	c.6187A>G	c.(6187-6189)Atc>Gtc	p.I2063V	AKAP6_ENST00000557272.1_Intron	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	2063	PKA-RII subunit binding domain.				protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		TGTTAAGGAAATCATTGACAT	0.398													27	34					0	0	1	0	0	G	33293206	A	G	33293206	3	3	81	1	0	0	0	0	1	0	0	0	452	101	4	3	6233	3	AKAP6	14	33293206	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	60	33293206	74056334	10459	14075											
NPAS3	64067	broad.mit.edu	37	14	33684459	33684459	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:33684459T>C	ENST00000346562.2	+	2	196	c.122T>C	c.(121-123)tTc>tCc	p.F41S	NPAS3_ENST00000341321.4_Missense_Mutation_p.F71S|NPAS3_ENST00000356141.4_Missense_Mutation_p.F71S|NPAS3_ENST00000551008.1_5'UTR|NPAS3_ENST00000551492.1_Missense_Mutation_p.F78S|NPAS3_ENST00000547068.1_5'UTR|NPAS3_ENST00000548645.1_Missense_Mutation_p.F41S|NPAS3_ENST00000357798.5_Missense_Mutation_p.F41S	NM_001164749.1|NM_001165893.1|NM_022123.2|NM_173159.2	NP_001158221.1|NP_001159365.1|NP_071406.1|NP_775182.1	Q8IXF0	NPAS3_HUMAN	neuronal PAS domain protein 3	71					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)		AACTTTGAGTTCTATGAATTG	0.458													16	68					0	0	1	0	0	C	33684459	T	C	33684459	3	2	81	1	0	0	0	0	1	0	0	0	10611	1783	62	3	222	3	NPAS3	14	33684459	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	391253	33684459	73665081	10460	14076											
EGLN3	112399	broad.mit.edu	37	14	34419872	34419872	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:34419872G>A	ENST00000547327.2	-	1	415	c.87C>T	c.(85-87)tgC>tgT	p.C29C	EGLN3_ENST00000250457.3_Silent_p.C29C|EGLN3_ENST00000553215.1_Intron			Q9H6Z9	EGLN3_HUMAN	egl-9 family hypoxia-inducible factor 3	29					apoptosis	cytoplasm|nucleus	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|upper_aerodigestive_tract(1)	15	Breast(36;0.0303)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.000246)|Lung(238;0.000959)|Epithelial(34;0.155)	GBM - Glioblastoma multiforme(112;0.0118)	Vitamin C(DB00126)	TGTCCAGGTAGCAGAAGCCCA	0.652													11	27					0	0	1	0	0	A	34419872	G	A	34419872	2	1	81	1	0	0	0	0	0	0	0	1	4996	963	34	2		2	EGLN3	14	34419872	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	735413	34419872	72929668	10461	14077											
SNX6	58533	broad.mit.edu	37	14	35062309	35062309	+	Nonsense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:35062309A>C	ENST00000396526.3	-	7	808	c.312T>G	c.(310-312)taT>taG	p.Y104*	SNX6_ENST00000396534.3_Nonsense_Mutation_p.Y104*|SNX6_ENST00000362031.4_Nonsense_Mutation_p.Y232*|SNX6_ENST00000355110.5_Nonsense_Mutation_p.Y108*			Q9UNH7	SNX6_HUMAN	sorting nexin 6	220	PX.|Phosphatidylinositol bisphosphate binding (By similarity).				cell communication|intracellular protein transport|negative regulation of epidermal growth factor receptor activity|negative regulation of transcription, DNA-dependent|negative regulation of transforming growth factor beta receptor signaling pathway|retrograde transport, endosome to Golgi	cytoplasmic vesicle membrane|early endosome membrane|nucleus	phosphatidylinositol binding|protein homodimerization activity			endometrium(4)|lung(1)|ovary(1)	6	Breast(36;0.0473)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00199)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.0245)		CTCGGTTATGATACTCCAAAA	0.303													3	35					0	0	1	0	0	C	35062309	A	C	35062309	4	2	81	1	0	0	0	0	0	1	0	0	14960	340	12	4	588	4	SNX6	14	35062309	Nonsense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	642437	35062309	72287231	10462	14078											
SNX6	58533	broad.mit.edu	37	14	35078876	35078876	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:35078876G>A	ENST00000362031.4	-	3	193	c.163C>T	c.(163-165)Cgg>Tgg	p.R55W	SNX6_ENST00000396534.3_5'UTR|SNX6_ENST00000396526.3_5'UTR|SNX6_ENST00000355110.5_5'UTR	NM_152233.2	NP_689419.2	Q9UNH7	SNX6_HUMAN	sorting nexin 6	43	PX.				cell communication|intracellular protein transport|negative regulation of epidermal growth factor receptor activity|negative regulation of transcription, DNA-dependent|negative regulation of transforming growth factor beta receptor signaling pathway|retrograde transport, endosome to Golgi	cytoplasmic vesicle membrane|early endosome membrane|nucleus	phosphatidylinositol binding|protein homodimerization activity			endometrium(4)|lung(1)|ovary(1)	6	Breast(36;0.0473)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00199)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.0245)		ACTTTATCCCGCTCACTAAGA	0.333													31	47					0	0	1	0	0	A	35078876	G	A	35078876	3	1	81	1	0	0	0	0	1	0	0	0	14960	1086	38	1	1141	1	SNX6	14	35078876	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	16567	35078876	72270664	10463	14079											
BAZ1A	11177	broad.mit.edu	37	14	35234240	35234240	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:35234240C>T	ENST00000360310.1	-	22	4103	c.3536G>A	c.(3535-3537)cGa>cAa	p.R1179Q	BAZ1A_ENST00000358716.4_Missense_Mutation_p.R1147Q|BAZ1A_ENST00000382422.2_Missense_Mutation_p.R1179Q	NM_013448.2	NP_038476.2	Q9NRL2	BAZ1A_HUMAN	bromodomain adjacent to zinc finger domain, 1A	1179					chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ACF complex	zinc ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(2)|large_intestine(7)|lung(19)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	Breast(36;0.0388)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;7.23e-05)|Lung(238;0.00019)|Epithelial(34;0.0793)|all cancers(34;0.175)	GBM - Glioblastoma multiforme(112;0.0659)		GAGCTTTGGTCGAACACAGTA	0.358													23	39					0	0	1	0	0	T	35234240	C	T	35234240	3	4	81	1	0	0	0	0	1	0	0	0	1327	884	31	1	1158	1	BAZ1A	14	35234240	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	155364	35234240	72115300	10464	14080											
PPP2R3C	55012	broad.mit.edu	37	14	35576557	35576557	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:35576557C>A	ENST00000261475.5	-	6	879	c.526G>T	c.(526-528)Gga>Tga	p.G176*		NM_017917.2	NP_060387.2	Q969Q6	P2R3C_HUMAN	protein phosphatase 2, regulatory subunit B'', gamma	176						centrosome|nucleus	calcium ion binding			central_nervous_system(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)	15	Breast(36;0.0545)|Hepatocellular(127;0.158)|Prostate(35;0.184)		Lung(238;8.62e-06)|LUAD - Lung adenocarcinoma(48;1.42e-05)|Epithelial(34;0.0177)|all cancers(34;0.0491)	GBM - Glioblastoma multiforme(112;0.0803)		AAACTGAGTCCTATTCTTGTT	0.333													33	52					6.29468e-14	7.96673e-14	1	1	0	A	35576557	C	A	35576557	4	1	81	1	0	0	0	0	0	1	0	0	12439	690	24	4	867	4	PPP2R3C	14	35576557	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	342317	35576557	71772983	10465	14081											
RALGAPA1	253959	broad.mit.edu	37	14	36096635	36096635	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:36096635G>T	ENST00000258840.6	-	34	5531	c.5141C>A	c.(5140-5142)aCt>aAt	p.T1714N	RALGAPA1_ENST00000382366.3_Missense_Mutation_p.T1680N|RALGAPA1_ENST00000389698.3_Missense_Mutation_p.T1667N|RALGAPA1_ENST00000307138.6_Missense_Mutation_p.T1667N	NM_001283044.1	NP_001269973.1	Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)	1667	Minimal domain that binds to TCF3/E12 (By similarity).				activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	protein heterodimerization activity|Ral GTPase activator activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						AGTTGGTACAGTTTCTCTAAA	0.393													58	84					7.41606e-26	9.82589e-26	1	1	0	T	36096635	G	T	36096635	3	4	81	1	0	0	0	0	1	0	0	0	13065	1029	36	4	1295	4	RALGAPA1	14	36096635	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	520078	36096635	71252905	10466	14082											
RALGAPA1	253959	broad.mit.edu	37	14	36217850	36217850	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:36217850G>A	ENST00000258840.6	-	10	1582	c.1192C>T	c.(1192-1194)Cgc>Tgc	p.R398C	RALGAPA1_ENST00000307138.6_Missense_Mutation_p.R398C|RALGAPA1_ENST00000554704.1_5'UTR|RALGAPA1_ENST00000382366.3_Missense_Mutation_p.R398C|RALGAPA1_ENST00000389698.3_Missense_Mutation_p.R398C	NM_001283044.1	NP_001269973.1	Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)	398					activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	protein heterodimerization activity|Ral GTPase activator activity	p.R398C(2)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						AAAACTCTGCGAACTATTTCA	0.368													23	24					0	0	1	0	0	A	36217850	G	A	36217850	3	1	81	1	0	0	0	0	1	0	0	0	13065	1058	37	1	5195	1	RALGAPA1	14	36217850	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	121215	36217850	71131690	10467	14083											
RALGAPA1	253959	broad.mit.edu	37	14	36217958	36217958	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:36217958C>A	ENST00000258840.6	-	10	1474	c.1084G>T	c.(1084-1086)Gaa>Taa	p.E362*	RALGAPA1_ENST00000307138.6_Nonsense_Mutation_p.E362*|RALGAPA1_ENST00000554704.1_5'UTR|RALGAPA1_ENST00000382366.3_Nonsense_Mutation_p.E362*|RALGAPA1_ENST00000389698.3_Nonsense_Mutation_p.E362*	NM_001283044.1	NP_001269973.1	Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)	362					activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	protein heterodimerization activity|Ral GTPase activator activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						TGTTCGGGTTCTGTAGTTCTG	0.373													39	67					3.43241e-23	4.51968e-23	1	1	0	A	36217958	C	A	36217958	4	1	81	1	0	0	0	0	0	1	0	0	13065	922	32	4	5303	4	RALGAPA1	14	36217958	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	108	36217958	71131582	10468	14084											
RALGAPA1	253959	broad.mit.edu	37	14	36219826	36219826	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:36219826G>T	ENST00000258840.6	-	9	1263	c.873C>A	c.(871-873)atC>atA	p.I291I	RALGAPA1_ENST00000307138.6_Silent_p.I291I|RALGAPA1_ENST00000554704.1_5'UTR|RALGAPA1_ENST00000382366.3_Silent_p.I291I|RALGAPA1_ENST00000389698.3_Silent_p.I291I	NM_001283044.1	NP_001269973.1	Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)	291					activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	protein heterodimerization activity|Ral GTPase activator activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						TTGTACAATAGATTGCTTCAT	0.413													16	40					0.000422831	0.00045788	1	1	0	T	36219826	G	T	36219826	2	4	81	1	0	0	0	0	0	0	0	1	13065	932	33	4		4	RALGAPA1	14	36219826	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1868	36219826	71129714	10469	14085											
BRMS1L	84312	broad.mit.edu	37	14	36295758	36295758	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:36295758C>A	ENST00000216807.7	+	1	235	c.36C>A	c.(34-36)acC>acA	p.T12T	RP11-317N8.5_ENST00000555918.1_RNA|BRMS1L_ENST00000543183.1_5'UTR	NM_032352.3	NP_115728.2	Q5PSV4	BRM1L_HUMAN	breast cancer metastasis-suppressor 1-like	12					regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|cervix(1)|endometrium(2)|kidney(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9	Breast(36;0.137)|Hepatocellular(127;0.158)		Lung(8;1.7e-07)|LUAD - Lung adenocarcinoma(9;3e-07)|Epithelial(34;0.00467)|all cancers(34;0.0157)|BRCA - Breast invasive adenocarcinoma(188;0.158)	GBM - Glioblastoma multiforme(112;0.0333)		AGAAGGAGACCAACCATCACG	0.607													3	4					0.115264	0.117126	1	1	0	A	36295758	C	A	36295758	2	1	81	1	0	0	0	0	0	0	0	1	1519	581	21	5		5	BRMS1L	14	36295758	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	75932	36295758	71053782	10470	14086											
BRMS1L	84312	broad.mit.edu	37	14	36339592	36339592	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:36339592A>G	ENST00000216807.7	+	10	1080	c.881A>G	c.(880-882)gAt>gGt	p.D294G	BRMS1L_ENST00000543183.1_Missense_Mutation_p.D246G	NM_032352.3	NP_115728.2	Q5PSV4	BRM1L_HUMAN	breast cancer metastasis-suppressor 1-like	294					regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|cervix(1)|endometrium(2)|kidney(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9	Breast(36;0.137)|Hepatocellular(127;0.158)		Lung(8;1.7e-07)|LUAD - Lung adenocarcinoma(9;3e-07)|Epithelial(34;0.00467)|all cancers(34;0.0157)|BRCA - Breast invasive adenocarcinoma(188;0.158)	GBM - Glioblastoma multiforme(112;0.0333)		ATTAACCATGATGAAGTTTGG	0.279													13	107					0	0	1	0	0	G	36339592	A	G	36339592	3	3	81	1	0	0	0	0	1	0	0	0	1519	333	12	3	919	3	BRMS1L	14	36339592	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	43834	36339592	71009948	10471	14087											
NKX2-1	7080	broad.mit.edu	37	14	36988464	36988464	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:36988464G>A	ENST00000518149.1	-	2	704	c.99C>T	c.(97-99)ggC>ggT	p.G33G	NKX2-1_ENST00000354822.5_Silent_p.G63G|RP11-896J10.3_ENST00000521945.1_RNA|NKX2-1_ENST00000522719.2_Silent_p.G33G|NKX2-1_ENST00000498187.2_Silent_p.G33G			P43699	NKX21_HUMAN	NK2 homeobox 1	33					epithelial tube branching involved in lung morphogenesis|globus pallidus development|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|thyroid gland development		protein binding|transcription regulatory region DNA binding			large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(2)	7	all_cancers(3;4.47e-51)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)|Breast(36;0.165)		Lung(8;1.8e-08)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.014)|all cancers(34;0.0366)|LUSC - Lung squamous cell carcinoma(13;0.132)	GBM - Glioblastoma multiforme(112;0.0171)		GAGCCCCGAGGCCGCCGCCCT	0.667			A		NSCLC								5	3					0	0	1	0	0	A	36988464	G	A	36988464	2	1	81	1	0	0	0	0	0	0	0	1	10496	1190	42	2		2	NKX2-1	14	36988464	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	648872	36988464	70361076	10472	14088											
SEC23A	10484	broad.mit.edu	37	14	39524384	39524384	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:39524384T>C	ENST00000537403.1	-	10	2218	c.1016A>G	c.(1015-1017)gAt>gGt	p.D339G	SEC23A_ENST00000536508.1_Missense_Mutation_p.D415G|SEC23A_ENST00000545328.2_Missense_Mutation_p.D512G|SEC23A_ENST00000307712.6_Missense_Mutation_p.D541G			Q15436	SC23A_HUMAN	Sec23 homolog A (S. cerevisiae)	541					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|Golgi membrane|smooth endoplasmic reticulum membrane	protein binding|zinc ion binding			kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(1)	23	Hepatocellular(127;0.213)		Lung(238;0.00047)|LUAD - Lung adenocarcinoma(48;0.000565)	GBM - Glioblastoma multiforme(112;0.0151)		CCTAAGCACATCTGGACCTTC	0.418													10	95					0	0	1	0	0	C	39524384	T	C	39524384	3	2	81	1	0	0	0	0	1	0	0	0	14045	1435	50	3	703	3	SEC23A	14	39524384	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	2535920	39524384	67825156	10473	14089											
SEC23A	10484	broad.mit.edu	37	14	39565205	39565205	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:39565205C>A	ENST00000307712.6	-	2	635	c.118G>T	c.(118-120)Gcc>Tcc	p.A40S	SEC23A_ENST00000548032.2_Missense_Mutation_p.A40S|SEC23A_ENST00000536508.1_Intron|SEC23A_ENST00000545328.2_Missense_Mutation_p.A40S|SEC23A_ENST00000557280.1_Missense_Mutation_p.A40S|SEC23A_ENST00000553970.1_Missense_Mutation_p.A40S	NM_006364.2	NP_006355.2	Q15436	SC23A_HUMAN	Sec23 homolog A (S. cerevisiae)	40					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|Golgi membrane|smooth endoplasmic reticulum membrane	protein binding|zinc ion binding			kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(1)	23	Hepatocellular(127;0.213)		Lung(238;0.00047)|LUAD - Lung adenocarcinoma(48;0.000565)	GBM - Glioblastoma multiforme(112;0.0151)		GTAAACAGGGCTGCCACAGGA	0.433													10	72					0.361761	0.363003	1	1	0	A	39565205	C	A	39565205	3	1	81	1	0	0	0	0	1	0	0	0	14045	797	28	4	2255	4	SEC23A	14	39565205	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	40821	39565205	67784335	10474	14090											
TRAPPC6B	122553	broad.mit.edu	37	14	39621037	39621037	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:39621037C>T	ENST00000330149.5	-	5	584	c.358G>A	c.(358-360)Gca>Aca	p.A120T	TRAPPC6B_ENST00000557764.1_5'UTR|TRAPPC6B_ENST00000347691.5_Missense_Mutation_p.A92T	NM_001079537.1	NP_001073005.1	Q86SZ2	TPC6B_HUMAN	trafficking protein particle complex 6B	120					vesicle-mediated transport	endoplasmic reticulum|Golgi apparatus	guanylate cyclase activity|heme binding			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0128)		CACGTAAATGCTAAATACTAA	0.294													16	38					0	0	1	0	0	T	39621037	C	T	39621037	3	4	81	1	0	0	0	0	1	0	0	0	16525	797	28	2	126	2	TRAPPC6B	14	39621037	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	55832	39621037	67728503	10475	14091											
PNN	5411	broad.mit.edu	37	14	39646666	39646666	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:39646666C>T	ENST00000216832.4	+	4	372	c.305C>T	c.(304-306)cCg>cTg	p.P102L	PNN_ENST00000556530.1_Missense_Mutation_p.P102L|PNN_ENST00000553331.1_Missense_Mutation_p.P102L	NM_002687.3	NP_002678	Q9H307	PININ_HUMAN	pinin, desmosome associated protein	102	Necessary for interaction with RNPS1.|Necessary for mediating alternative 5' splicing.				cell adhesion|regulation of transcription, DNA-dependent|transcription, DNA-dependent	catalytic step 2 spliceosome|desmosome|intermediate filament|nuclear speck	DNA binding|protein binding|structural molecule activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)|stomach(1)	27	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0119)		GAAAGCGACCCGGAGGATGAT	0.413													11	20					0	0	1	0	0	T	39646666	C	T	39646666	3	4	81	1	0	0	0	0	1	0	0	0	12208	652	23	1	319	1	PNN	14	39646666	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	25629	39646666	67702874	10476	14092											
PNN	5411	broad.mit.edu	37	14	39648331	39648331	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:39648331G>T	ENST00000216832.4	+	7	602	c.535G>T	c.(535-537)Gtt>Ttt	p.V179F	PNN_ENST00000557680.1_3'UTR|PNN_ENST00000553331.1_3'UTR	NM_002687.3	NP_002678	Q9H307	PININ_HUMAN	pinin, desmosome associated protein	179	Glu-rich.|Necessary for interaction with RNPS1.				cell adhesion|regulation of transcription, DNA-dependent|transcription, DNA-dependent	catalytic step 2 spliceosome|desmosome|intermediate filament|nuclear speck	DNA binding|protein binding|structural molecule activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)|stomach(1)	27	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0119)		AAAACTTGAAGTTCAGGCAGA	0.388													29	44					1.17739e-12	1.47479e-12	1	1	0	T	39648331	G	T	39648331	3	4	81	1	0	0	0	0	1	0	0	0	12208	1029	36	4	561	4	PNN	14	39648331	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1665	39648331	67701209	10477	14093											
PNN	5411	broad.mit.edu	37	14	39650606	39650606	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:39650606C>T	ENST00000216832.4	+	9	1760	c.1693C>T	c.(1693-1695)Cga>Tga	p.R565*	PNN_ENST00000557680.1_Intron	NM_002687.3	NP_002678	Q9H307	PININ_HUMAN	pinin, desmosome associated protein	565	Ser-rich.				cell adhesion|regulation of transcription, DNA-dependent|transcription, DNA-dependent	catalytic step 2 spliceosome|desmosome|intermediate filament|nuclear speck	DNA binding|protein binding|structural molecule activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)|stomach(1)	27	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0119)		AAGTAGAGGTCGAGCTAGAAA	0.453													24	33					0	0	1	0	0	T	39650606	C	T	39650606	4	4	81	1	0	0	0	0	0	1	0	0	12208	876	31	1	1727	1	PNN	14	39650606	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2275	39650606	67698934	10478	14094											
CTAGE5	4253	broad.mit.edu	37	14	39771384	39771384	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:39771384G>T	ENST00000553728.1	+	14	2665	c.2452G>T	c.(2452-2454)Gaa>Taa	p.E818*	CTAGE5_ENST00000341502.5_Nonsense_Mutation_p.E283*|CTAGE5_ENST00000348007.3_Nonsense_Mutation_p.E283*|CTAGE5_ENST00000553352.1_Nonsense_Mutation_p.E254*|CTAGE5_ENST00000396158.2_Nonsense_Mutation_p.E288*|CTAGE5_ENST00000280083.3_Nonsense_Mutation_p.E283*|CTAGE5_ENST00000396165.4_Nonsense_Mutation_p.E254*|RP11-407N17.3_ENST00000603904.1_Nonsense_Mutation_p.E254*|CTAGE5_ENST00000341749.3_Nonsense_Mutation_p.E271*|CTAGE5_ENST00000556148.1_Nonsense_Mutation_p.E208*|CTAGE5_ENST00000557038.1_Nonsense_Mutation_p.E203*																							TATGCTTGGAGAAGACATAAC	0.383													10	139					2.17888e-05	2.43576e-05	1	1	0	T	39771384	G	T	39771384	4	4	81	1	0	0	0	0	0	1	0	0	4019	943	33	4	916	4	CTAGE5	14	39771384	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	120778	39771384	67578156	10479	14095											
CTAGE5	4253	broad.mit.edu	37	14	39790251	39790251	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:39790251G>T	ENST00000553728.1	+	23	3481	c.3268G>T	c.(3268-3270)Gga>Tga	p.G1090*	CTAGE5_ENST00000341502.5_Nonsense_Mutation_p.G555*|CTAGE5_ENST00000348007.3_Intron|CTAGE5_ENST00000553352.1_Nonsense_Mutation_p.G526*|CTAGE5_ENST00000396158.2_Nonsense_Mutation_p.G560*|CTAGE5_ENST00000280083.3_Nonsense_Mutation_p.G555*|CTAGE5_ENST00000396165.4_Nonsense_Mutation_p.G526*|RP11-407N17.3_ENST00000603904.1_Nonsense_Mutation_p.G526*|CTAGE5_ENST00000341749.3_Nonsense_Mutation_p.G543*|CTAGE5_ENST00000556148.1_Nonsense_Mutation_p.G480*|CTAGE5_ENST00000557038.1_Nonsense_Mutation_p.G475*																							TCCAGGGGGAGGAGGAAGAGG	0.383													35	39					1.56442e-22	2.05504e-22	1	1	0	T	39790251	G	T	39790251	4	4	81	1	0	0	0	0	0	1	0	0	4019	1001	35	4	1768	4	CTAGE5	14	39790251	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	18867	39790251	67559289	10480	14096											
LRFN5	145581	broad.mit.edu	37	14	42356285	42356285	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:42356285G>A	ENST00000554171.1	+	5	2889	c.457G>A	c.(457-459)Gat>Aat	p.D153N	LRFN5_ENST00000298119.4_Missense_Mutation_p.D153N|LRFN5_ENST00000554120.1_Missense_Mutation_p.D153N			Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	153						integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		TGAGGAGCTGGATCTGTCCTA	0.393										HNSCC(30;0.082)			9	51					0	0	1	0	0	A	42356285	G	A	42356285	3	1	81	1	0	0	0	0	1	0	0	0	8986	1174	41	2	459	2	LRFN5	14	42356285	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2566034	42356285	64993255	10481	14097											
LRFN5	145581	broad.mit.edu	37	14	42356327	42356327	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:42356327G>T	ENST00000554171.1	+	5	2931	c.499G>T	c.(499-501)Gtt>Ttt	p.V167F	LRFN5_ENST00000298119.4_Missense_Mutation_p.V167F|LRFN5_ENST00000554120.1_Missense_Mutation_p.V167F			Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	167						integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		TTGGGATGCTGTTGAGAAGAT	0.423										HNSCC(30;0.082)			21	25					4.35082e-09	5.22652e-09	1	1	0	T	42356327	G	T	42356327	3	4	81	1	0	0	0	0	1	0	0	0	8986	1377	48	5	501	5	LRFN5	14	42356327	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	42	42356327	64993213	10482	14098											
LRFN5	145581	broad.mit.edu	37	14	42356641	42356641	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:42356641C>T	ENST00000554171.1	+	5	3245	c.813C>T	c.(811-813)ggC>ggT	p.G271G	LRFN5_ENST00000298119.4_Silent_p.G271G|LRFN5_ENST00000554120.1_Silent_p.G271G			Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	271	LRRCT.					integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		TTTTAACTGGCCGCTACTTTT	0.468										HNSCC(30;0.082)			48	72					0	0	1	0	0	T	42356641	C	T	42356641	2	4	81	1	0	0	0	0	0	0	0	1	8986	726	26	2		2	LRFN5	14	42356641	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	314	42356641	64992899	10483	14099	69	2									
LRFN5	145581	broad.mit.edu	37	14	42356643	42356643	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:42356643G>A	ENST00000554171.1	+	5	3247	c.815G>A	c.(814-816)cGc>cAc	p.R272H	LRFN5_ENST00000298119.4_Missense_Mutation_p.R272H|LRFN5_ENST00000554120.1_Missense_Mutation_p.R272H			Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	272	LRRCT.					integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		TTAACTGGCCGCTACTTTTGG	0.468										HNSCC(30;0.082)			50	67					0	0	1	0	0	A	42356643	G	A	42356643	3	1	81	1	0	0	0	0	1	0	0	0	8986	1087	38	1	817	1	LRFN5	14	42356643	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2	42356643	64992897	10484	14100	69	2									
LRFN5	145581	broad.mit.edu	37	14	42356889	42356889	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:42356889C>A	ENST00000554171.1	+	5	3493	c.1061C>A	c.(1060-1062)gCt>gAt	p.A354D	LRFN5_ENST00000298119.4_Missense_Mutation_p.A354D|LRFN5_ENST00000554120.1_Missense_Mutation_p.A354D			Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	354	Ig-like.					integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		GATACAGGTGCTTTTACCTGC	0.383										HNSCC(30;0.082)			30	61					2.61193e-14	3.31221e-14	1	1	0	A	42356889	C	A	42356889	3	1	81	1	0	0	0	0	1	0	0	0	8986	797	28	4	1063	4	LRFN5	14	42356889	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	246	42356889	64992651	10485	14101											
LRFN5	145581	broad.mit.edu	37	14	42360514	42360514	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:42360514G>T	ENST00000298119.4	+	4	2636	c.1447G>T	c.(1447-1449)Gac>Tac	p.D483Y	LRFN5_ENST00000554120.1_Intron|LRFN5_ENST00000554171.1_Intron	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	483	Fibronectin type-III.					integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		AACTATGTATGACTTGTGTGT	0.418										HNSCC(30;0.082)			53	82					7.34454e-26	9.73186e-26	1	1	0	T	42360514	G	T	42360514	3	4	81	1	0	0	0	0	1	0	0	0	8986	1290	45	5	1453	5	LRFN5	14	42360514	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	3625	42360514	64989026	10486	14102											
LRFN5	145581	broad.mit.edu	37	14	42360875	42360875	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:42360875G>A	ENST00000298119.4	+	4	2997	c.1808G>A	c.(1807-1809)tGt>tAt	p.C603Y	LRFN5_ENST00000554120.1_Intron|LRFN5_ENST00000554171.1_Intron	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	603						integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		GCCCAGTGTTGTAAAGCTACC	0.488										HNSCC(30;0.082)			12	32					0	0	1	0	0	A	42360875	G	A	42360875	3	1	81	1	0	0	0	0	1	0	0	0	8986	1377	48	2	1814	2	LRFN5	14	42360875	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	361	42360875	64988665	10487	14103											
LRFN5	145581	broad.mit.edu	37	14	42360968	42360968	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:42360968C>T	ENST00000298119.4	+	4	3090	c.1901C>T	c.(1900-1902)aCt>aTt	p.T634I	LRFN5_ENST00000554120.1_Intron|LRFN5_ENST00000554171.1_Intron	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	634						integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		CCTTCCTGGACTTCAAGCACT	0.448										HNSCC(30;0.082)			6	23					0	0	1	0	0	T	42360968	C	T	42360968	3	4	81	1	0	0	0	0	1	0	0	0	8986	565	20	2	1907	2	LRFN5	14	42360968	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	93	42360968	64988572	10488	14104											
FSCB	84075	broad.mit.edu	37	14	44975486	44975486	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:44975486C>A	ENST00000340446.4	-	1	996	c.705G>T	c.(703-705)agG>agT	p.R235S		NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	235						cilium				breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		TTACTTCTTCCCTAAGCTCAT	0.393													34	69					5.8336e-16	7.46609e-16	1	1	0	A	44975486	C	A	44975486	3	1	81	1	0	0	0	0	1	0	0	0	6101	622	22	5	1776	5	FSCB	14	44975486	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2614518	44975486	62374054	10489	14105											
C14orf28	122525	broad.mit.edu	37	14	45370061	45370061	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:45370061A>C	ENST00000325192.3	+	2	698	c.423A>C	c.(421-423)aaA>aaC	p.K141N	C14orf28_ENST00000553841.1_3'UTR|C14orf28_ENST00000557112.1_Missense_Mutation_p.K141N|RP11-857B24.5_ENST00000555157.1_RNA	NM_001017923.1	NP_001017923.1	Q4W4Y0	CN028_HUMAN	chromosome 14 open reading frame 28	141										endometrium(1)|large_intestine(3)|liver(1)|lung(4)|ovary(2)	11						ATTTTACAAAAAATCTTGAAA	0.368													12	27					0	0	1	0	0	C	45370061	A	C	45370061	3	2	81	1	0	0	0	0	1	0	0	0	1776	11	1	5	425	5	C14orf28	14	45370061	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	394575	45370061	61979479	10490	14106											
C14orf28	122525	broad.mit.edu	37	14	45370113	45370113	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:45370113C>T	ENST00000325192.3	+	2	750	c.475C>T	c.(475-477)Cga>Tga	p.R159*	C14orf28_ENST00000553841.1_3'UTR|C14orf28_ENST00000557112.1_Nonsense_Mutation_p.R159*|RP11-857B24.5_ENST00000555157.1_RNA	NM_001017923.1	NP_001017923.1	Q4W4Y0	CN028_HUMAN	chromosome 14 open reading frame 28	159										endometrium(1)|large_intestine(3)|liver(1)|lung(4)|ovary(2)	11						TTCCAACTGGCGATGCCCAAC	0.343													17	31					0	0	1	0	0	T	45370113	C	T	45370113	4	4	81	1	0	0	0	0	0	1	0	0	1776	760	27	1	477	1	C14orf28	14	45370113	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	52	45370113	61979427	10491	14107											
FAM179B	23116	broad.mit.edu	37	14	45432170	45432170	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:45432170T>C	ENST00000361462.2	+	1	729	c.546T>C	c.(544-546)ccT>ccC	p.P182P	FAM179B_ENST00000361577.3_Silent_p.P182P|FAM179B_ENST00000382233.2_Silent_p.P182P			Q9Y4F4	F179B_HUMAN	family with sequence similarity 179, member B	182							binding			endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						CACTTTTGCCTCAACTAGTTG	0.537													8	95					0	0	1	0	0	C	45432170	T	C	45432170	2	2	81	1	0	0	0	0	0	0	0	1	5536	1538	54	3		3	FAM179B	14	45432170	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	62057	45432170	61917370	10492	14108											
FAM179B	23116	broad.mit.edu	37	14	45535897	45535897	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:45535897G>A	ENST00000361462.2	+	17	4859	c.4676G>A	c.(4675-4677)cGt>cAt	p.R1559H	FAM179B_ENST00000361577.3_Missense_Mutation_p.R1506H|FAM179B_ENST00000382233.2_3'UTR			Q9Y4F4	F179B_HUMAN	family with sequence similarity 179, member B	1506							binding			endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						TTTCGTGATCGTATTAATGGG	0.348													25	48					0	0	1	0	0	A	45535897	G	A	45535897	3	1	81	1	0	0	0	0	1	0	0	0	5536	1145	40	1	4579	1	FAM179B	14	45535897	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	103727	45535897	61813643	10493	14109											
PRPF39	55015	broad.mit.edu	37	14	45571854	45571854	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:45571854G>A	ENST00000355765.6	+	5	862	c.692G>A	c.(691-693)cGt>cAt	p.R231H		NM_017922.3	NP_060392.3	Q86UA1	PRP39_HUMAN	pre-mRNA processing factor 39	231					mRNA processing|RNA splicing	nucleus	binding			breast(2)|endometrium(2)|kidney(4)|lung(3)|ovary(1)	12						ATATATGATCGTATTCTTGGT	0.388													82	107					0	0	1	0	0	A	45571854	G	A	45571854	3	1	81	1	0	0	0	0	1	0	0	0	12621	1145	40	1	706	1	PRPF39	14	45571854	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	35957	45571854	61777686	10494	14110											
FANCM	57697	broad.mit.edu	37	14	45605352	45605352	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:45605352G>A	ENST00000267430.5	+	1	203	c.118G>A	c.(118-120)Gcg>Acg	p.A40T	FANCM_ENST00000542564.2_Missense_Mutation_p.A40T|FANCM_ENST00000556036.1_Missense_Mutation_p.A40T	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	40					DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						CAGCTCCAAGGCGCCTTTGCC	0.602								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				15	25					0	0	1	0	0	A	45605352	G	A	45605352	3	1	81	1	0	0	0	0	1	0	0	0	5704	1203	42	2	120	2	FANCM	14	45605352	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	33498	45605352	61744188	10495	14111											
FANCM	57697	broad.mit.edu	37	14	45605531	45605531	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:45605531C>T	ENST00000267430.5	+	1	382	c.297C>T	c.(295-297)tcC>tcT	p.S99S	FANCM_ENST00000542564.2_Silent_p.S99S|FANCM_ENST00000556036.1_Silent_p.S99S	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	99	Helicase ATP-binding.				DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						TGCACATTTCCCGGGCTGCTC	0.567								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				7	69					0	0	1	0	0	T	45605531	C	T	45605531	2	4	81	1	0	0	0	0	0	0	0	1	5704	610	22	2		2	FANCM	14	45605531	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	179	45605531	61744009	10496	14112											
FANCM	57697	broad.mit.edu	37	14	45633578	45633578	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:45633578G>A	ENST00000267430.5	+	10	1683	c.1598G>A	c.(1597-1599)cGt>cAt	p.R533H	FANCM_ENST00000542564.2_Missense_Mutation_p.R507H|FANCM_ENST00000556036.1_Missense_Mutation_p.R533H	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	533	Helicase C-terminal.				DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						AAACAGTTTCGTGACGGTGGT	0.368								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				19	33					0	0	1	0	0	A	45633578	G	A	45633578	3	1	81	1	0	0	0	0	1	0	0	0	5704	1145	40	1	1636	1	FANCM	14	45633578	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	28047	45633578	61715962	10497	14113											
FANCM	57697	broad.mit.edu	37	14	45645467	45645467	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:45645467G>A	ENST00000267430.5	+	14	3595	c.3510G>A	c.(3508-3510)acG>acA	p.T1170T	FANCM_ENST00000542564.2_Silent_p.T1144T	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	1170					DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						TTAGTGAAACGCCTCTGGTCT	0.373								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				45	51					0	0	1	0	0	A	45645467	G	A	45645467	2	1	81	1	0	0	0	0	0	0	0	1	5704	1074	38	1		1	FANCM	14	45645467	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	11889	45645467	61704073	10498	14114											
MDGA2	161357	broad.mit.edu	37	14	47343308	47343308	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:47343308T>C	ENST00000426342.1	-	13	2385	c.1639A>G	c.(1639-1641)Aga>Gga	p.R547G	MDGA2_ENST00000399222.3_5'UTR|MDGA2_ENST00000439988.3_Missense_Mutation_p.R845G|MDGA2_ENST00000399232.2_Missense_Mutation_p.R776G|MDGA2_ENST00000357362.3_Missense_Mutation_p.R547G	NM_182830.3	NP_878250.2	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	776	Ig-like 6.				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						TTTGTATTTCTTGTTGCTGTA	0.368													5	82					0	0	1	0	0	C	47343308	T	C	47343308	3	2	81	1	0	0	0	0	1	0	0	0	9457	1617	56	3	564	3	MDGA2	14	47343308	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	1697841	47343308	60006232	10499	14115											
MDGA2	161357	broad.mit.edu	37	14	47530558	47530558	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:47530558G>A	ENST00000426342.1	-	7	1271	c.525C>T	c.(523-525)atC>atT	p.I175I	MDGA2_ENST00000439988.3_Silent_p.I473I|MDGA2_ENST00000399232.2_Silent_p.I404I|MDGA2_ENST00000357362.3_Silent_p.I175I	NM_182830.3	NP_878250.2	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	404	Ig-like 2.				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						TTAAATCAATGATGTCCAAGT	0.398													47	83					0	0	1	0	0	A	47530558	G	A	47530558	2	1	81	1	0	0	0	0	0	0	0	1	9457	1280	45	2		2	MDGA2	14	47530558	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	187250	47530558	59818982	10500	14116											
MDGA2	161357	broad.mit.edu	37	14	47530712	47530712	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:47530712C>T	ENST00000426342.1	-	7	1117	c.371G>A	c.(370-372)cGt>cAt	p.R124H	MDGA2_ENST00000439988.3_Missense_Mutation_p.R422H|MDGA2_ENST00000399232.2_Missense_Mutation_p.R353H|MDGA2_ENST00000357362.3_Missense_Mutation_p.R124H	NM_182830.3	NP_878250.2	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	353	Ig-like 1.				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						TTTCACCTCACGGCCAATCTG	0.383													19	53					0	0	1	0	0	T	47530712	C	T	47530712	3	4	81	1	0	0	0	0	1	0	0	0	9457	536	19	1	1856	1	MDGA2	14	47530712	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	154	47530712	59818828	10501	14117											
MGAT2	4247	broad.mit.edu	37	14	50088095	50088095	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:50088095C>A	ENST00000305386.2	+	1	607	c.109C>A	c.(109-111)Ctc>Atc	p.L37I	RP11-649E7.5_ENST00000555043.1_RNA	NM_002408.3	NP_002399.1	Q10469	MGAT2_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase	37					oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|Golgi stack|integral to membrane|membrane fraction	alpha-1,6-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity			cervix(1)|endometrium(3)|large_intestine(1)|lung(6)	11	all_epithelial(31;0.0021)|Breast(41;0.0124)					GAACGAGGCCCTCGCCCCACC	0.682													8	10					5.18039e-06	5.88187e-06	1	1	0	A	50088095	C	A	50088095	3	1	81	1	0	0	0	0	1	0	0	0	9593	681	24	4	111	4	MGAT2	14	50088095	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2557383	50088095	57261445	10502	14118											
POLE2	5427	broad.mit.edu	37	14	50122474	50122474	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:50122474C>T	ENST00000539565.2	-	10	983	c.765G>A	c.(763-765)gaG>gaA	p.E255E	POLE2_ENST00000556584.1_5'UTR|POLE2_ENST00000216367.5_Silent_p.E281E|POLE2_ENST00000554396.1_Silent_p.E281E	NM_001197330.1	NP_001184259.1	P56282	DPOE2_HUMAN	polymerase (DNA directed), epsilon 2, accessory subunit	281					DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	DNA binding|DNA-directed DNA polymerase activity			kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	10	all_epithelial(31;0.0021)|Breast(41;0.0124)					CATCTTTATTCTCCTCTTCTA	0.333													81	137					0	0	1	0	0	T	50122474	C	T	50122474	2	4	81	1	0	0	0	0	0	0	0	1	12245	912	32	2		2	POLE2	14	50122474	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	34379	50122474	57227066	10503	14119											
KLHDC1	122773	broad.mit.edu	37	14	50218357	50218357	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:50218357C>T	ENST00000359332.2	+	13	1178	c.1088C>T	c.(1087-1089)tCt>tTt	p.S363F		NM_172193.2	NP_751943.1	Q8N7A1	KLDC1_HUMAN	kelch domain containing 1	363						cytoplasm				kidney(1)|large_intestine(1)|liver(2)|lung(5)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	12	all_epithelial(31;0.00244)|Breast(41;0.00964)					AGTCAGATATCTTTATTACCT	0.333													15	19					0	0	1	0	0	T	50218357	C	T	50218357	3	4	81	1	0	0	0	0	1	0	0	0	8397	913	32	2	1138	2	KLHDC1	14	50218357	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	95883	50218357	57131183	10504	14120											
KLHDC2	23588	broad.mit.edu	37	14	50238339	50238339	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:50238339delT	ENST00000298307.5	+	2	1042	c.181delT	c.(181-183)tttfs	p.F61fs	KLHDC2_ENST00000553538.1_3'UTR|KLHDC2_ENST00000554589.1_Frame_Shift_Del_p.F61fs|KLHDC2_ENST00000557247.1_Frame_Shift_Del_p.F61fs	NM_014315.2	NP_055130.1	Q9Y2U9	KLDC2_HUMAN	kelch domain containing 2	61						nucleus	protein binding			endometrium(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	all_epithelial(31;0.000959)|Breast(41;0.0117)					ATTATATGACTTTTATCTGCC	0.313													33	49	---	---	---	---						-	50238339	T	-	50238339	7	5	81	1	0	1	0	1	0	0	0	0	8399	1609	56	0	187	0	KLHDC2	14	50238339	Frame_Shift_Del	DEL	T	TCGA-DU-6392-01A-11D-1705-08	19982	50238339	57111201	10505	14121											
SOS2	6655	broad.mit.edu	37	14	50623748	50623748	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:50623748G>A	ENST00000216373.5	-	12	2300	c.2026C>T	c.(2026-2028)Cgc>Tgc	p.R676C	SOS2_ENST00000555794.1_5'UTR|SOS2_ENST00000543680.1_Missense_Mutation_p.R643C	NM_006939.2	NP_008870.2	Q07890	SOS2_HUMAN	son of sevenless homolog 2 (Drosophila)	676	N-terminal Ras-GEF.				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	DNA binding|protein binding|Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1)	39	all_epithelial(31;0.000822)|Breast(41;0.0065)					TATTCCTTGCGAAATCTTTTA	0.358													7	7					0	0	1	0	0	A	50623748	G	A	50623748	3	1	81	1	0	0	0	0	1	0	0	0	14991	1058	37	1	2020	1	SOS2	14	50623748	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	385409	50623748	56725792	10506	14122											
SOS2	6655	broad.mit.edu	37	14	50626452	50626452	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:50626452T>C	ENST00000216373.5	-	10	1823	c.1549A>G	c.(1549-1551)Aaa>Gaa	p.K517E	SOS2_ENST00000555794.1_5'UTR|SOS2_ENST00000543680.1_Missense_Mutation_p.K484E	NM_006939.2	NP_008870.2	Q07890	SOS2_HUMAN	son of sevenless homolog 2 (Drosophila)	517	PH.				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	DNA binding|protein binding|Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1)	39	all_epithelial(31;0.000822)|Breast(41;0.0065)					TTCTCATCTTTGGATACTAAT	0.343													40	72					0	0	1	0	0	C	50626452	T	C	50626452	3	2	81	1	0	0	0	0	1	0	0	0	14991	1821	63	3	2505	3	SOS2	14	50626452	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	2704	50626452	56723088	10507	14123											
SOS2	6655	broad.mit.edu	37	14	50626689	50626689	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:50626689A>G	ENST00000216373.5	-	10	1586	c.1312T>C	c.(1312-1314)Tgt>Cgt	p.C438R	SOS2_ENST00000555794.1_5'UTR|SOS2_ENST00000543680.1_Missense_Mutation_p.C405R	NM_006939.2	NP_008870.2	Q07890	SOS2_HUMAN	son of sevenless homolog 2 (Drosophila)	438					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	DNA binding|protein binding|Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1)	39	all_epithelial(31;0.000822)|Breast(41;0.0065)					TCATTACAACACTGTCCAATA	0.353													7	154					0	0	1	0	0	G	50626689	A	G	50626689	3	3	81	1	0	0	0	0	1	0	0	0	14991	159	6	3	2742	3	SOS2	14	50626689	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	237	50626689	56722851	10508	14124											
MAP4K5	11183	broad.mit.edu	37	14	50892641	50892641	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:50892641C>T	ENST00000013125.4	-	30	2699	c.2381G>A	c.(2380-2382)aGc>aAc	p.S794N		NM_006575.4|NM_198794.2	NP_006566.2|NP_942089.1	Q9Y4K4	M4K5_HUMAN	mitogen-activated protein kinase kinase kinase kinase 5	794	CNH.				activation of JUN kinase activity	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15	all_epithelial(31;0.000415)|Breast(41;0.0102)					TGACTTGAAGCTTTTACCCTG	0.403													9	12					0	0	1	0	0	T	50892641	C	T	50892641	3	4	81	1	0	0	0	0	1	0	0	0	9313	797	28	2	171	2	MAP4K5	14	50892641	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	265952	50892641	56456899	10509	14125											
NIN	51199	broad.mit.edu	37	14	51224050	51224050	+	Frame_Shift_Del	DEL	T	T	-	rs34636266		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:51224050delT	ENST00000245441.5	-	18	3888	c.3698delA	c.(3697-3699)aagfs	p.K1234fs	NIN_ENST00000324330.9_Frame_Shift_Del_p.K1234fs|NIN_ENST00000453196.1_Frame_Shift_Del_p.K1234fs|NIN_ENST00000382043.4_Intron|NIN_ENST00000382041.3_Frame_Shift_Del_p.K1234fs|NIN_ENST00000389868.3_Intron|NIN_ENST00000530997.2_Frame_Shift_Del_p.K1234fs	NM_020921.3	NP_065972	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	1234					centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					CTTCAGTTTCTTTTTTAGCAC	0.418			T	PDGFRB	MPD								68	129	---	---	---	---						-	51224050	T	-	51224050	7	5	81	1	0	1	0	1	0	0	0	0	10464	1609	56	0	2907	0	NIN	14	51224050	Frame_Shift_Del	DEL	T	TCGA-DU-6392-01A-11D-1705-08	331409	51224050	56125490	10510	14126											
NIN	51199	broad.mit.edu	37	14	51245488	51245488	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:51245488G>A	ENST00000245441.5	-	6	660	c.470C>T	c.(469-471)gCg>gTg	p.A157V	NIN_ENST00000382043.4_Missense_Mutation_p.A157V|NIN_ENST00000382041.3_Missense_Mutation_p.A157V|NIN_ENST00000389868.3_Missense_Mutation_p.A157V|NIN_ENST00000324330.9_Missense_Mutation_p.A157V|NIN_ENST00000453196.1_Missense_Mutation_p.A157V|NIN_ENST00000530997.2_Missense_Mutation_p.A157V	NM_020921.3	NP_065972	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	157					centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					CTTACCTTCCGCTTCATACTC	0.522			T	PDGFRB	MPD								43	56					0	0	1	0	0	A	51245488	G	A	51245488	3	1	81	1	0	0	0	0	1	0	0	0	10464	1087	38	1	6183	1	NIN	14	51245488	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	21438	51245488	56104052	10511	14127											
ABHD12B	145447	broad.mit.edu	37	14	51347289	51347289	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:51347289G>T	ENST00000337334.2	+	4	470	c.455G>T	c.(454-456)aGg>aTg	p.R152M	ABHD12B_ENST00000353130.1_Splice_Site_p.R75M|PYGL_ENST00000532462.1_Intron|ABHD12B_ENST00000395752.1_Splice_Site_p.R45M|ABHD12B_ENST00000554241.1_3'UTR	NM_001206673.1	NP_001193602.1	Q7Z5M8	AB12B_HUMAN	abhydrolase domain containing 12B	152							hydrolase activity			breast(2)|endometrium(1)|large_intestine(2)|lung(5)	10	all_epithelial(31;0.00481)|Breast(41;0.148)					GCAGAACACAGGTCAGTGGCT	0.483													9	125					4.68919e-08	5.54405e-08	1	1	0	T	51347289	G	T	51347289	5	4	81	1	0	0	0	0	0	0	1	0	77	1014	35	4	248	4	ABHD12B	14	51347289	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	101801	51347289	56002251	10512	14128											
PYGL	5836	broad.mit.edu	37	14	51375006	51375006	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:51375006C>A	ENST00000216392.7	-	19	2694	c.2362G>T	c.(2362-2364)Gtg>Ttg	p.V788L	PYGL_ENST00000532462.1_Missense_Mutation_p.V788L|PYGL_ENST00000544180.2_Missense_Mutation_p.V754L	NM_002863.4	NP_002854.3	P06737	PYGL_HUMAN	phosphorylase, glycogen, liver	788					glucose homeostasis|glucose metabolic process|glycogen catabolic process	cytosol|soluble fraction	AMP binding|ATP binding|bile acid binding|drug binding|glucose binding|glycogen phosphorylase activity|protein homodimerization activity|purine base binding|pyridoxal phosphate binding			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(3)	25	all_epithelial(31;0.00825)|Breast(41;0.148)				Adenosine monophosphate(DB00131)|Pyridoxal Phosphate(DB00114)|Riboflavin(DB00140)	AGCTGACTCACTTTATCTTGA	0.303													4	67					0.00116845	0.00124301	1	1	0	A	51375006	C	A	51375006	3	1	81	1	0	0	0	0	1	0	0	0	12913	565	20	4	189	4	PYGL	14	51375006	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	27717	51375006	55974534	10513	14129											
PYGL	5836	broad.mit.edu	37	14	51376748	51376748	+	Missense_Mutation	SNP	T	T	G	rs113993987		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:51376748T>G	ENST00000216392.7	-	17	2374	c.2042A>C	c.(2041-2043)aAg>aCg	p.K681T	PYGL_ENST00000532462.1_Missense_Mutation_p.K681T|PYGL_ENST00000544180.2_Missense_Mutation_p.K647T	NM_002863.4	NP_002854.3	P06737	PYGL_HUMAN	phosphorylase, glycogen, liver	681					glucose homeostasis|glucose metabolic process|glycogen catabolic process	cytosol|soluble fraction	AMP binding|ATP binding|bile acid binding|drug binding|glucose binding|glycogen phosphorylase activity|protein homodimerization activity|purine base binding|pyridoxal phosphate binding			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(3)	25	all_epithelial(31;0.00825)|Breast(41;0.148)				Adenosine monophosphate(DB00131)|Pyridoxal Phosphate(DB00114)|Riboflavin(DB00140)	TAGCATGAACTTCATATTGCC	0.488													12	142					0	0	1	0	0	G	51376748	T	G	51376748	3	3	81	1	0	0	0	0	1	0	0	0	12913	1609	56	5	517	5	PYGL	14	51376748	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	1742	51376748	55972792	10514	14130											
PYGL	5836	broad.mit.edu	37	14	51387279	51387279	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:51387279C>T	ENST00000216392.7	-	7	1167	c.835G>A	c.(835-837)Gtc>Atc	p.V279I	PYGL_ENST00000532462.1_Missense_Mutation_p.V279I|PYGL_ENST00000544180.2_Missense_Mutation_p.V245I	NM_002863.4	NP_002854.3	P06737	PYGL_HUMAN	phosphorylase, glycogen, liver	279					glucose homeostasis|glucose metabolic process|glycogen catabolic process	cytosol|soluble fraction	AMP binding|ATP binding|bile acid binding|drug binding|glucose binding|glycogen phosphorylase activity|protein homodimerization activity|purine base binding|pyridoxal phosphate binding			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(3)	25	all_epithelial(31;0.00825)|Breast(41;0.148)				Adenosine monophosphate(DB00131)|Pyridoxal Phosphate(DB00114)|Riboflavin(DB00140)	GGATAGAGGACCCGGGAGATG	0.443													29	43					0	0	1	0	0	T	51387279	C	T	51387279	3	4	81	1	0	0	0	0	1	0	0	0	12913	507	18	2	1764	2	PYGL	14	51387279	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	10531	51387279	55962261	10515	14131											
TRIM9	114088	broad.mit.edu	37	14	51464729	51464729	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:51464729G>A	ENST00000360392.4	-	7	1778	c.1642C>T	c.(1642-1644)Cgt>Tgt	p.R548C	TRIM9_ENST00000298355.3_Intron|TRIM9_ENST00000338969.5_Intron	NM_052978.4	NP_443210.1	Q9C026	TRIM9_HUMAN	tripartite motif containing 9	0	B30.2/SPRY.				proteasomal ubiquitin-dependent protein catabolic process	cell junction|cytoskeleton|dendrite|synaptic vesicle	protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_epithelial(31;0.00418)|Breast(41;0.148)					TAGATGCCACGCAGTTCTCGC	0.562													3	22					0	0	1	0	0	A	51464729	G	A	51464729	3	1	81	1	0	0	0	0	1	0	0	0	16610	1087	38	1	556	1	TRIM9	14	51464729	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	77450	51464729	55884811	10516	14132											
FRMD6	122786	broad.mit.edu	37	14	52186962	52186962	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:52186962A>C	ENST00000395718.2	+	11	1475	c.1190A>C	c.(1189-1191)gAc>gCc	p.D397A	FRMD6_ENST00000356218.4_Missense_Mutation_p.D397A|FRMD6_ENST00000344768.5_Missense_Mutation_p.D405A|FRMD6_ENST00000553556.1_Missense_Mutation_p.D47A|FRMD6_ENST00000554167.1_Missense_Mutation_p.D328A	NM_001267046.1|NM_152330.3	NP_001253975.1|NP_689543.1	Q96NE9	FRMD6_HUMAN	FERM domain containing 6	405						cytoskeleton|mitochondrion|plasma membrane	binding			breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_epithelial(31;0.0163)|Breast(41;0.089)					AAGCCCCGGGACACGGGGCCA	0.617													3	43					0	0	1	0	0	C	52186962	A	C	52186962	3	2	81	1	0	0	0	0	1	0	0	0	6089	275	10	5	1228	5	FRMD6	14	52186962	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	722233	52186962	55162578	10517	14133											
FRMD6	122786	broad.mit.edu	37	14	52188733	52188733	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:52188733G>A	ENST00000395718.2	+	12	1688	c.1403G>A	c.(1402-1404)aGc>aAc	p.S468N	FRMD6_ENST00000356218.4_Missense_Mutation_p.S468N|FRMD6_ENST00000344768.5_Missense_Mutation_p.S476N|FRMD6_ENST00000553556.1_Missense_Mutation_p.S118N|FRMD6_ENST00000554167.1_Missense_Mutation_p.S399N	NM_001267046.1|NM_152330.3	NP_001253975.1|NP_689543.1	Q96NE9	FRMD6_HUMAN	FERM domain containing 6	476						cytoskeleton|mitochondrion|plasma membrane	binding			breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_epithelial(31;0.0163)|Breast(41;0.089)					CTGGAAGTCAGCCCAGACATG	0.468													18	71					0	0	1	0	0	A	52188733	G	A	52188733	3	1	81	1	0	0	0	0	1	0	0	0	6089	971	34	2	1445	2	FRMD6	14	52188733	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1771	52188733	55160807	10518	14134											
FRMD6	122786	broad.mit.edu	37	14	52188794	52188794	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:52188794C>A	ENST00000395718.2	+	12	1749	c.1464C>A	c.(1462-1464)caC>caA	p.H488Q	FRMD6_ENST00000356218.4_Missense_Mutation_p.H488Q|FRMD6_ENST00000344768.5_Missense_Mutation_p.H496Q|FRMD6_ENST00000553556.1_Missense_Mutation_p.H138Q|FRMD6_ENST00000554167.1_Missense_Mutation_p.H419Q	NM_001267046.1|NM_152330.3	NP_001253975.1|NP_689543.1	Q96NE9	FRMD6_HUMAN	FERM domain containing 6	496						cytoskeleton|mitochondrion|plasma membrane	binding			breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_epithelial(31;0.0163)|Breast(41;0.089)					TGAATGGACACTCTGGTGAGC	0.507													6	55					3.59834e-05	3.99423e-05	1	1	0	A	52188794	C	A	52188794	3	1	81	1	0	0	0	0	1	0	0	0	6089	564	20	4	1506	4	FRMD6	14	52188794	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	61	52188794	55160746	10519	14135											
FRMD6	122786	broad.mit.edu	37	14	52194509	52194509	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:52194509G>T	ENST00000395718.2	+	14	1892	c.1607G>T	c.(1606-1608)aGc>aTc	p.S536I	FRMD6_ENST00000356218.4_Missense_Mutation_p.S536I|FRMD6_ENST00000344768.5_Missense_Mutation_p.S544I|FRMD6_ENST00000553556.1_Missense_Mutation_p.S186I|FRMD6_ENST00000554167.1_Missense_Mutation_p.S467I	NM_001267046.1|NM_152330.3	NP_001253975.1|NP_689543.1	Q96NE9	FRMD6_HUMAN	FERM domain containing 6	544						cytoskeleton|mitochondrion|plasma membrane	binding			breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_epithelial(31;0.0163)|Breast(41;0.089)					CACAGCTTGAGCCTCGATGAC	0.448													51	87					9.59835e-30	1.27903e-29	1	1	0	T	52194509	G	T	52194509	3	4	81	1	0	0	0	0	1	0	0	0	6089	971	34	4	1657	4	FRMD6	14	52194509	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	5715	52194509	55155031	10520	14136											
FRMD6	122786	broad.mit.edu	37	14	52194543	52194543	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:52194543C>T	ENST00000395718.2	+	14	1926	c.1641C>T	c.(1639-1641)ttC>ttT	p.F547F	FRMD6_ENST00000356218.4_Silent_p.F547F|FRMD6_ENST00000344768.5_Silent_p.F555F|FRMD6_ENST00000553556.1_Silent_p.F197F|FRMD6_ENST00000554167.1_Silent_p.F478F	NM_001267046.1|NM_152330.3	NP_001253975.1|NP_689543.1	Q96NE9	FRMD6_HUMAN	FERM domain containing 6	555						cytoskeleton|mitochondrion|plasma membrane	binding			breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_epithelial(31;0.0163)|Breast(41;0.089)					AGAAAGACTTCCTGCGCATTG	0.488													32	70					0	0	1	0	0	T	52194543	C	T	52194543	2	4	81	1	0	0	0	0	0	0	0	1	6089	854	30	2		2	FRMD6	14	52194543	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	34	52194543	55154997	10521	14137											
NID2	22795	broad.mit.edu	37	14	52535644	52535644	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:52535644C>T	ENST00000216286.5	-	1	68	c.69G>A	c.(67-69)ttG>ttA	p.L23L	NID2_ENST00000541773.1_Intron	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	23						basement membrane	calcium ion binding|collagen binding			NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					GCAACATTAGCAACGGCAGCA	0.687													5	35					0	0	1	0	0	T	52535644	C	T	52535644	2	4	81	1	0	0	0	0	0	0	0	1	10462	709	25	2		2	NID2	14	52535644	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	341101	52535644	54813896	10522	14138											
PTGER2	5732	broad.mit.edu	37	14	52781701	52781701	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:52781701G>A	ENST00000245457.5	+	1	589	c.435G>A	c.(433-435)caG>caA	p.Q145Q	PTGER2_ENST00000557436.1_Intron	NM_000956.3	NP_000947.2	P43116	PE2R2_HUMAN	prostaglandin E receptor 2 (subtype EP2), 53kDa	145						integral to plasma membrane	prostaglandin E receptor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15	Breast(41;0.0639)|all_epithelial(31;0.0729)				Alprostadil(DB00770)|Iloprost(DB01088)	ACTTCTACCAGCGCCGCGTCT	0.642													27	47					0	0	1	0	0	A	52781701	G	A	52781701	2	1	81	1	0	0	0	0	0	0	0	1	12793	962	34	2		2	PTGER2	14	52781701	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	246057	52781701	54567839	10523	14139											
TXNDC16	57544	broad.mit.edu	37	14	52922112	52922112	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:52922112C>T	ENST00000281741.4	-	18	2143	c.1772G>A	c.(1771-1773)aGc>aAc	p.S591N	TXNDC16_ENST00000554399.1_Intron	NM_001160047.1|NM_020784.2	NP_001153519.1|NP_065835.2	Q9P2K2	TXD16_HUMAN	thioredoxin domain containing 16	591					cell redox homeostasis	extracellular region				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(3)|skin(1)	21	Breast(41;0.0716)					TAGTGGGATGCTCTCTATTTT	0.403													32	32					0	0	1	0	0	T	52922112	C	T	52922112	3	4	81	1	0	0	0	0	1	0	0	0	16857	797	28	2	721	2	TXNDC16	14	52922112	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	140411	52922112	54427428	10524	14140											
TXNDC16	57544	broad.mit.edu	37	14	52922169	52922169	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:52922169T>C	ENST00000281741.4	-	18	2086	c.1715A>G	c.(1714-1716)tAt>tGt	p.Y572C	TXNDC16_ENST00000554399.1_Intron	NM_001160047.1|NM_020784.2	NP_001153519.1|NP_065835.2	Q9P2K2	TXD16_HUMAN	thioredoxin domain containing 16	572					cell redox homeostasis	extracellular region				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(3)|skin(1)	21	Breast(41;0.0716)					ACTTGCAGCATATTTGGTTGA	0.433													24	54					0	0	1	0	0	C	52922169	T	C	52922169	3	2	81	1	0	0	0	0	1	0	0	0	16857	1406	49	3	778	3	TXNDC16	14	52922169	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	57	52922169	54427371	10525	14141											
TXNDC16	57544	broad.mit.edu	37	14	53003474	53003474	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:53003474A>C	ENST00000281741.4	-	6	726	c.355T>G	c.(355-357)Ttg>Gtg	p.L119V	TXNDC16_ENST00000554399.1_Intron	NM_001160047.1|NM_020784.2	NP_001153519.1|NP_065835.2	Q9P2K2	TXD16_HUMAN	thioredoxin domain containing 16	119					cell redox homeostasis	extracellular region				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(3)|skin(1)	21	Breast(41;0.0716)					ACATCAAACAAGGTGTCAGTA	0.308													6	11					0	0	1	0	0	C	53003474	A	C	53003474	3	2	81	1	0	0	0	0	1	0	0	0	16857	69	3	5	2186	5	TXNDC16	14	53003474	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	81305	53003474	54346066	10526	14142											
GNPNAT1	64841	broad.mit.edu	37	14	53251269	53251269	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:53251269G>A	ENST00000216410.3	-	2	287	c.100C>T	c.(100-102)Cat>Tat	p.H34Y	GNPNAT1_ENST00000554230.1_Intron	NM_198066.3	NP_932332.1	Q96EK6	GNA1_HUMAN	glucosamine-phosphate N-acetyltransferase 1	34					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol|endosome membrane|Golgi membrane	glucosamine 6-phosphate N-acetyltransferase activity			liver(1)|lung(1)|prostate(1)|skin(1)	4	Breast(41;0.176)					TCTCCAGGATGTGTTGGGGAA	0.403													17	35					0	0	1	0	0	A	53251269	G	A	53251269	3	1	81	1	0	0	0	0	1	0	0	0	6586	1377	48	2	474	2	GNPNAT1	14	53251269	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	247795	53251269	54098271	10527	14143											
CGRRF1	10668	broad.mit.edu	37	14	54996915	54996915	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:54996915T>C	ENST00000216420.7	+	3	525	c.393T>C	c.(391-393)taT>taC	p.Y131Y	CGRRF1_ENST00000557512.1_3'UTR	NM_006568.2	NP_006559.1	Q99675	CGRF1_HUMAN	cell growth regulator with ring finger domain 1	131					cell cycle arrest|negative regulation of cell proliferation|response to stress		zinc ion binding	p.Y131*(1)		endometrium(3)|kidney(2)|lung(5)|ovary(2)|stomach(1)	13						ATGCTCTGTATAGTGAATATC	0.373													29	44					0	0	1	0	0	C	54996915	T	C	54996915	2	2	81	1	0	0	0	0	0	0	0	1	3328	1413	49	3		3	CGRRF1	14	54996915	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	1745646	54996915	52352625	10528	14144											
CGRRF1	10668	broad.mit.edu	37	14	55005088	55005088	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:55005088C>T	ENST00000216420.7	+	6	1118	c.986C>T	c.(985-987)cCg>cTg	p.P329L		NM_006568.2	NP_006559.1	Q99675	CGRF1_HUMAN	cell growth regulator with ring finger domain 1	329					cell cycle arrest|negative regulation of cell proliferation|response to stress		zinc ion binding			endometrium(3)|kidney(2)|lung(5)|ovary(2)|stomach(1)	13						AAAGACAAACCGAAGACTCTT	0.383													17	20					0	0	1	0	0	T	55005088	C	T	55005088	3	4	81	1	0	0	0	0	1	0	0	0	3328	652	23	1	1008	1	CGRRF1	14	55005088	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	8173	55005088	52344452	10529	14145											
SAMD4A	23034	broad.mit.edu	37	14	55034670	55034670	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:55034670C>T	ENST00000251091.5	+	1	341	c.36C>T	c.(34-36)ggC>ggT	p.G12G	SAMD4A_ENST00000357634.3_Silent_p.G11G|SAMD4A_ENST00000555112.1_3'UTR|SAMD4A_ENST00000392067.3_Silent_p.G12G|SAMD4A_ENST00000554335.1_Silent_p.G12G	NM_001161576.2	NP_001155048.2	Q9UPU9	SMAG1_HUMAN	sterile alpha motif domain containing 4A	12					positive regulation of translation	cell junction|cytoplasm|dendrite|synapse|synaptosome	translation repressor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)	29						TGCTGGCGGGCTGGTTTAAGG	0.697													6	27					0	0	1	0	0	T	55034670	C	T	55034670	2	4	81	1	0	0	0	0	0	0	0	1	13873	784	28	2		2	SAMD4A	14	55034670	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	29582	55034670	52314870	10530	14146											
WDHD1	11169	broad.mit.edu	37	14	55408345	55408345	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:55408345G>T	ENST00000360586.3	-	26	3318	c.3253C>A	c.(3253-3255)Cgt>Agt	p.R1085S	WDHD1_ENST00000359167.4_Missense_Mutation_p.R603S|WDHD1_ENST00000421192.1_Missense_Mutation_p.R962S|WDHD1_ENST00000420358.2_Missense_Mutation_p.R962S	NM_007086.3	NP_009017.1	O75717	WDHD1_HUMAN	WD repeat and HMG-box DNA binding protein 1	1085						cytoplasm|nucleoplasm	DNA binding			breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(2)	42						TCAACCACACGTTTTCGCTTC	0.373													21	41					2.39556e-15	3.05451e-15	1	1	0	T	55408345	G	T	55408345	3	4	81	1	0	0	0	0	1	0	0	0	17331	1145	40	5	140	5	WDHD1	14	55408345	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	373675	55408345	51941195	10531	14147											
SOCS4	122809	broad.mit.edu	37	14	55509911	55509911	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:55509911C>T	ENST00000395472.2	+	2	484	c.152C>T	c.(151-153)aCa>aTa	p.T51I	SOCS4_ENST00000339298.2_Missense_Mutation_p.T51I|SOCS4_ENST00000555846.1_Missense_Mutation_p.T51I	NM_080867.2|NM_199421.1	NP_543143.1|NP_955453.1	Q8WXH5	SOCS4_HUMAN	suppressor of cytokine signaling 4	51					intracellular signal transduction|negative regulation of signal transduction|regulation of growth					central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	14						GATGCTGAGACAGTGAATGGT	0.428													5	80					0	0	1	0	0	T	55509911	C	T	55509911	3	4	81	1	0	0	0	0	1	0	0	0	14970	478	17	2	154	2	SOCS4	14	55509911	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	101566	55509911	51839629	10532	14148											
SOCS4	122809	broad.mit.edu	37	14	55510641	55510641	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:55510641C>T	ENST00000395472.2	+	2	1214	c.882C>T	c.(880-882)taC>taT	p.Y294Y	SOCS4_ENST00000339298.2_Silent_p.Y294Y|SOCS4_ENST00000555846.1_Silent_p.Y294Y	NM_080867.2|NM_199421.1	NP_543143.1|NP_955453.1	Q8WXH5	SOCS4_HUMAN	suppressor of cytokine signaling 4	294	SH2.				intracellular signal transduction|negative regulation of signal transduction|regulation of growth					central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	14						TGGATAAATACGCAGCCGAAG	0.428													32	61					0	0	1	0	0	T	55510641	C	T	55510641	2	4	81	1	0	0	0	0	0	0	0	1	14970	547	19	1		1	SOCS4	14	55510641	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	730	55510641	51838899	10533	14149											
SOCS4	122809	broad.mit.edu	37	14	55511019	55511019	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:55511019G>T	ENST00000395472.2	+	2	1592	c.1260G>T	c.(1258-1260)aaG>aaT	p.K420N	SOCS4_ENST00000339298.2_Missense_Mutation_p.K420N|SOCS4_ENST00000555846.1_Missense_Mutation_p.K420N	NM_080867.2|NM_199421.1	NP_543143.1|NP_955453.1	Q8WXH5	SOCS4_HUMAN	suppressor of cytokine signaling 4	420	SOCS box.				intracellular signal transduction|negative regulation of signal transduction|regulation of growth					central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	14						TATATCTGAAGGAATATCATT	0.348													8	39					1.06961e-07	1.25755e-07	1	1	0	T	55511019	G	T	55511019	3	4	81	1	0	0	0	0	1	0	0	0	14970	991	35	4	1262	4	SOCS4	14	55511019	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	378	55511019	51838521	10534	14150											
SLC35F4	341880	broad.mit.edu	37	14	58056066	58056066	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:58056066G>T	ENST00000556826.1	-	3	691	c.455C>A	c.(454-456)aCt>aAt	p.T152N	SLC35F4_ENST00000554729.1_Missense_Mutation_p.T29N|SLC35F4_ENST00000339762.6_Missense_Mutation_p.T188N	NM_001206920.1	NP_001193849.1			solute carrier family 35, member F4											breast(1)|endometrium(4)|large_intestine(3)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GTTCTTATAAGTAATTTTTAC	0.398													3	44					0.115264	0.117126	1	1	0	T	58056066	G	T	58056066	3	4	81	1	0	0	0	0	1	0	0	0	14646	1029	36	4	1026	4	SLC35F4	14	58056066	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2545047	58056066	49293474	10535	14151											
SLC35F4	341880	broad.mit.edu	37	14	58056155	58056155	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:58056155C>T	ENST00000556826.1	-	3	602	c.366G>A	c.(364-366)acG>acA	p.T122T	SLC35F4_ENST00000554729.1_5'UTR|SLC35F4_ENST00000339762.6_Silent_p.T158T	NM_001206920.1	NP_001193849.1			solute carrier family 35, member F4											breast(1)|endometrium(4)|large_intestine(3)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GAACCATGGACGTGCAGGACA	0.443													4	23					0	0	1	0	0	T	58056155	C	T	58056155	2	4	81	1	0	0	0	0	0	0	0	1	14646	523	19	1		1	SLC35F4	14	58056155	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	89	58056155	49293385	10536	14152											
SLC35F4	341880	broad.mit.edu	37	14	58063577	58063577	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:58063577G>T	ENST00000339762.6	-	1	38	c.39C>A	c.(37-39)acC>acA	p.T13T	SLC35F4_ENST00000554729.1_5'UTR|SLC35F4_ENST00000556826.1_Intron|SLC35F4_ENST00000557430.1_Intron					solute carrier family 35, member F4											breast(1)|endometrium(4)|large_intestine(3)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GCCTCCCACTGGTCAGTTTGT	0.423													6	25					0.00116845	0.00124301	1	1	0	T	58063577	G	T	58063577	2	4	81	1	0	0	0	0	0	0	0	1	14646	1335	47	5		5	SLC35F4	14	58063577	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	7422	58063577	49285963	10537	14153											
C14orf37	145407	broad.mit.edu	37	14	58471494	58471494	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:58471494C>T	ENST00000267485.7	-	8	2479	c.2285G>A	c.(2284-2286)cGa>cAa	p.R762Q		NM_001001872.2	NP_001001872.2	Q86TY3	CN037_HUMAN	chromosome 14 open reading frame 37	762						integral to membrane	binding			breast(7)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|skin(1)	33						GAGCATTACTCGATCTTGCAT	0.378													12	163					0	0	1	0	0	T	58471494	C	T	58471494	3	4	81	1	0	0	0	0	1	0	0	0	1777	884	31	1	43	1	C14orf37	14	58471494	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	407917	58471494	48878046	10538	14154											
C14orf37	145407	broad.mit.edu	37	14	58605246	58605246	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:58605246G>T	ENST00000267485.7	-	2	1025	c.831C>A	c.(829-831)tcC>tcA	p.S277S	C14orf37_ENST00000334342.5_5'UTR	NM_001001872.2	NP_001001872.2	Q86TY3	CN037_HUMAN	chromosome 14 open reading frame 37	277						integral to membrane	binding			breast(7)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|skin(1)	33						GGGTGTACTCGGAAGTTTCGA	0.552													29	34					9.80776e-20	1.27817e-19	1	1	0	T	58605246	G	T	58605246	2	4	81	1	0	0	0	0	0	0	0	1	1777	1103	39	5		5	C14orf37	14	58605246	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	133752	58605246	48744294	10539	14155											
ACTR10	55860	broad.mit.edu	37	14	58678106	58678106	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:58678106C>A	ENST00000254286.4	+	5	519	c.439C>A	c.(439-441)Ctg>Atg	p.L147M		NM_018477.2	NP_060947.1	Q9NZ32	ARP10_HUMAN	actin-related protein 10 homolog (S. cerevisiae)	147						cytoplasm				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	13						TAGGGAAAGCCTGGTGTTACC	0.383													60	105					5.5144e-22	7.23489e-22	1	1	0	A	58678106	C	A	58678106	3	1	81	1	0	0	0	0	1	0	0	0	208	680	24	4	457	4	ACTR10	14	58678106	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	72860	58678106	48671434	10540	14156											
ACTR10	55860	broad.mit.edu	37	14	58690342	58690342	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:58690342C>T	ENST00000254286.4	+	9	717	c.637C>T	c.(637-639)Cgt>Tgt	p.R213C		NM_018477.2	NP_060947.1	Q9NZ32	ARP10_HUMAN	actin-related protein 10 homolog (S. cerevisiae)	213						cytoplasm				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	13						CCTTAAAGCGCGTACTTGCTT	0.338													8	14					0	0	1	0	0	T	58690342	C	T	58690342	3	4	81	1	0	0	0	0	1	0	0	0	208	768	27	1	671	1	ACTR10	14	58690342	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	12236	58690342	48659198	10541	14157											
ACTR10	55860	broad.mit.edu	37	14	58698849	58698849	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:58698849G>A	ENST00000254286.4	+	12	1016	c.936G>A	c.(934-936)ttG>ttA	p.L312L		NM_018477.2	NP_060947.1	Q9NZ32	ARP10_HUMAN	actin-related protein 10 homolog (S. cerevisiae)	312						cytoplasm				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	13						CTTCTATGTTGCCAGGATTTC	0.358													15	160					0	0	1	0	0	A	58698849	G	A	58698849	2	1	81	1	0	0	0	0	0	0	0	1	208	1310	46	2		2	ACTR10	14	58698849	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	8507	58698849	48650691	10542	14158											
PSMA3	5684	broad.mit.edu	37	14	58737155	58737155	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:58737155G>A	ENST00000216455.4	+	9	700	c.610G>A	c.(610-612)Gaa>Aaa	p.E204K	RP11-349A22.5_ENST00000556002.1_RNA|RP11-349A22.5_ENST00000554360.1_RNA|RP11-349A22.5_ENST00000554378.1_RNA|RP11-349A22.5_ENST00000555275.1_RNA|PSMA3_ENST00000412908.2_Missense_Mutation_p.E197K|PSMA3_ENST00000557508.1_Missense_Mutation_p.E129K	NM_002788.3|NM_152132.2	NP_002779.1|NP_687033.1	P25788	PSA3_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 3	204					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex, alpha-subunit complex	protein binding|threonine-type endopeptidase activity			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(2)	12						AGTACATGACGAAGTTAAGGA	0.348													35	76					0	0	1	0	0	A	58737155	G	A	58737155	3	1	81	1	0	0	0	0	1	0	0	0	12717	1059	37	1	644	1	PSMA3	14	58737155	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	38306	58737155	48612385	10543	14159											
ARID4A	5926	broad.mit.edu	37	14	58831083	58831083	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:58831083A>G	ENST00000355431.3	+	20	2649	c.2276A>G	c.(2275-2277)aAg>aGg	p.K759R	ARID4A_ENST00000431317.2_Missense_Mutation_p.K759R|ARID4A_ENST00000348476.3_Missense_Mutation_p.K759R|ARID4A_ENST00000395168.3_Missense_Mutation_p.K759R	NM_002892.3	NP_002883.3	P29374	ARI4A_HUMAN	AT rich interactive domain 4A (RBP1-like)	759					negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	transcriptional repressor complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						GAAACCCTGAAGTTAGAAGTT	0.318													6	65					0	0	1	0	0	G	58831083	A	G	58831083	3	3	81	1	0	0	0	0	1	0	0	0	916	72	3	3	2350	3	ARID4A	14	58831083	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	93928	58831083	48518457	10544	14160											
ARID4A	5926	broad.mit.edu	37	14	58831193	58831193	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:58831193C>T	ENST00000355431.3	+	20	2759	c.2386C>T	c.(2386-2388)Cga>Tga	p.R796*	ARID4A_ENST00000431317.2_Nonsense_Mutation_p.R796*|ARID4A_ENST00000348476.3_Nonsense_Mutation_p.R796*|ARID4A_ENST00000395168.3_Nonsense_Mutation_p.R796*	NM_002892.3	NP_002883.3	P29374	ARI4A_HUMAN	AT rich interactive domain 4A (RBP1-like)	796					negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	transcriptional repressor complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						AAAGGGAAGACGAAGCAAGAC	0.343													9	34					0	0	1	0	0	T	58831193	C	T	58831193	4	4	81	1	0	0	0	0	0	1	0	0	916	528	19	1	2460	1	ARID4A	14	58831193	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	110	58831193	48518347	10545	14161											
ARID4A	5926	broad.mit.edu	37	14	58831663	58831663	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:58831663C>T	ENST00000355431.3	+	20	3229	c.2856C>T	c.(2854-2856)atC>atT	p.I952I	ARID4A_ENST00000431317.2_Silent_p.I952I|ARID4A_ENST00000348476.3_Silent_p.I952I|ARID4A_ENST00000395168.3_Silent_p.I952I	NM_002892.3	NP_002883.3	P29374	ARI4A_HUMAN	AT rich interactive domain 4A (RBP1-like)	952	Retinoblastoma protein binding (Potential).				negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	transcriptional repressor complex	DNA binding|sequence-specific DNA binding transcription factor activity	p.I952I(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						TGCCTCTGATCGGGCCTGAAA	0.408													48	64					0	0	1	0	0	T	58831663	C	T	58831663	2	4	81	1	0	0	0	0	0	0	0	1	916	874	31	1		1	ARID4A	14	58831663	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	470	58831663	48517877	10546	14162											
ARID4A	5926	broad.mit.edu	37	14	58831923	58831923	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:58831923G>C	ENST00000355431.3	+	20	3489	c.3116G>C	c.(3115-3117)gGt>gCt	p.G1039A	ARID4A_ENST00000431317.2_Missense_Mutation_p.G1039A|ARID4A_ENST00000348476.3_Missense_Mutation_p.G1039A|ARID4A_ENST00000395168.3_Missense_Mutation_p.G1039A	NM_002892.3	NP_002883.3	P29374	ARI4A_HUMAN	AT rich interactive domain 4A (RBP1-like)	1039					negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	transcriptional repressor complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						TCTCAAGAAGGTCTCTGTGAG	0.408													31	75					0	0	1	0	0	C	58831923	G	C	58831923	3	2	81	1	0	0	0	0	1	0	0	0	916	1261	44	5	3190	5	ARID4A	14	58831923	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	260	58831923	48517617	10547	14163											
TOMM20L	387990	broad.mit.edu	37	14	58869412	58869412	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:58869412G>A	ENST00000360945.2	+	3	237	c.195G>A	c.(193-195)acG>acA	p.T65T	RP11-517O13.1_ENST00000556734.1_RNA	NM_207377.2	NP_997260.1	Q6UXN7	TO20L_HUMAN	translocase of outer mitochondrial membrane 20 homolog (yeast)-like	65					protein targeting	integral to membrane|mitochondrial outer membrane translocase complex				large_intestine(2)|lung(2)	4						GGGATCCAACGAAGAATAAAA	0.308													38	77					0	0	1	0	0	A	58869412	G	A	58869412	2	1	81	1	0	0	0	0	0	0	0	1	16415	1045	37	1		1	TOMM20L	14	58869412	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	37489	58869412	48480128	10548	14164											
DACT1	51339	broad.mit.edu	37	14	59112616	59112616	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:59112616C>T	ENST00000395153.3	+	4	1311	c.1164C>T	c.(1162-1164)gcC>gcT	p.A388A	DACT1_ENST00000335867.4_Silent_p.A425A|DACT1_ENST00000541264.2_Silent_p.A144A|DACT1_ENST00000556859.1_Silent_p.A144A	NM_001079520.1|NM_016651.5	NP_001072988.1|NP_057735.2	Q9NYF0	DACT1_HUMAN	dishevelled-binding antagonist of beta-catenin 1	425					multicellular organismal development|Wnt receptor signaling pathway	cytoplasm|nucleus				endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						AATCAAAGGCCGAACAAGCCG	0.572													13	29					0	0	1	0	0	T	59112616	C	T	59112616	2	4	81	1	0	0	0	0	0	0	0	1	4246	639	23	1		1	DACT1	14	59112616	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	243204	59112616	48236924	10549	14165											
DACT1	51339	broad.mit.edu	37	14	59112882	59112882	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:59112882G>A	ENST00000395153.3	+	4	1577	c.1430G>A	c.(1429-1431)aGc>aAc	p.S477N	DACT1_ENST00000335867.4_Missense_Mutation_p.S514N|DACT1_ENST00000541264.2_Missense_Mutation_p.S233N|DACT1_ENST00000556859.1_Missense_Mutation_p.S233N	NM_001079520.1|NM_016651.5	NP_001072988.1|NP_057735.2	Q9NYF0	DACT1_HUMAN	dishevelled-binding antagonist of beta-catenin 1	514					multicellular organismal development|Wnt receptor signaling pathway	cytoplasm|nucleus				endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						CAGAAAAACAGCCTGCAGGGC	0.592													10	124					0	0	1	0	0	A	59112882	G	A	59112882	3	1	81	1	0	0	0	0	1	0	0	0	4246	971	34	2	1555	2	DACT1	14	59112882	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	266	59112882	48236658	10550	14166											
DACT1	51339	broad.mit.edu	37	14	59113084	59113084	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:59113084C>A	ENST00000395153.3	+	4	1779	c.1632C>A	c.(1630-1632)aaC>aaA	p.N544K	DACT1_ENST00000335867.4_Missense_Mutation_p.N581K|DACT1_ENST00000541264.2_Missense_Mutation_p.N300K|DACT1_ENST00000556859.1_Missense_Mutation_p.N300K	NM_001079520.1|NM_016651.5	NP_001072988.1|NP_057735.2	Q9NYF0	DACT1_HUMAN	dishevelled-binding antagonist of beta-catenin 1	581					multicellular organismal development|Wnt receptor signaling pathway	cytoplasm|nucleus				endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						TCGTGAAGAACTCCAGCCTGA	0.667													7	18					0.0381472	0.0389402	1	1	0	A	59113084	C	A	59113084	3	1	81	1	0	0	0	0	1	0	0	0	4246	564	20	4	1757	4	DACT1	14	59113084	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	202	59113084	48236456	10551	14167											
DACT1	51339	broad.mit.edu	37	14	59113639	59113639	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:59113639C>T	ENST00000395153.3	+	4	2334	c.2187C>T	c.(2185-2187)ttC>ttT	p.F729F	DACT1_ENST00000335867.4_Silent_p.F766F|DACT1_ENST00000541264.2_Silent_p.F485F|DACT1_ENST00000556859.1_Silent_p.F485F	NM_001079520.1|NM_016651.5	NP_001072988.1|NP_057735.2	Q9NYF0	DACT1_HUMAN	dishevelled-binding antagonist of beta-catenin 1	766					multicellular organismal development|Wnt receptor signaling pathway	cytoplasm|nucleus				endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						AGGGCGAGTTCGTGGGGGAGA	0.582													32	57					0	0	1	0	0	T	59113639	C	T	59113639	2	4	81	1	0	0	0	0	0	0	0	1	4246	883	31	1		1	DACT1	14	59113639	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	555	59113639	48235901	10552	14168											
DAAM1	23002	broad.mit.edu	37	14	59730237	59730237	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:59730237C>A	ENST00000395125.1	+	1	65	c.42C>A	c.(40-42)atC>atA	p.I14I	DAAM1_ENST00000556135.1_Silent_p.I14I|DAAM1_ENST00000351081.1_Silent_p.I14I|DAAM1_ENST00000360909.3_Silent_p.I14I	NM_014992.2	NP_055807.1	Q9Y4D1	DAAM1_HUMAN	dishevelled associated activator of morphogenesis 1	14					actin cytoskeleton organization	cytoplasm|plasma membrane	actin binding|Rho GTPase binding			breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.165)		TTTCATTCATCTTTTGCTGTT	0.438													10	86					0.00136819	0.00145431	1	1	0	A	59730237	C	A	59730237	2	1	81	1	0	0	0	0	0	0	0	1	4239	903	32	4		4	DAAM1	14	59730237	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	616598	59730237	47619303	10553	14169											
DAAM1	23002	broad.mit.edu	37	14	59835392	59835392	+	Missense_Mutation	SNP	C	C	T	rs138713289		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:59835392C>T	ENST00000395125.1	+	25	3075	c.3052C>T	c.(3052-3054)Cgt>Tgt	p.R1018C	DAAM1_ENST00000351081.1_Missense_Mutation_p.R1018C|DAAM1_ENST00000360909.3_Missense_Mutation_p.R1008C|DAAM1_ENST00000553966.1_3'UTR	NM_014992.2	NP_055807.1	Q9Y4D1	DAAM1_HUMAN	dishevelled associated activator of morphogenesis 1	1018					actin cytoskeleton organization	cytoplasm|plasma membrane	actin binding|Rho GTPase binding			breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.165)		TGAAAGGGAACGTAAAATGAG	0.378													4	19					0	0	1	0	0	T	59835392	C	T	59835392	3	4	81	1	0	0	0	0	1	0	0	0	4239	536	19	1	3150	1	DAAM1	14	59835392	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	105155	59835392	47514148	10554	14170											
DHRS7	51635	broad.mit.edu	37	14	60619860	60619860	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:60619860G>A	ENST00000216500.5	-	5	885	c.430C>T	c.(430-432)Cgt>Tgt	p.R144C	PCNXL4_ENST00000553898.1_Intron|DHRS7_ENST00000553986.1_5'UTR|DHRS7_ENST00000557185.1_Missense_Mutation_p.R144C|PCNXL4_ENST00000406949.1_Intron|DHRS7_ENST00000536410.2_Missense_Mutation_p.R94C			Q9Y394	DHRS7_HUMAN	dehydrogenase/reductase (SDR family) member 7	144							binding|oxidoreductase activity			endometrium(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	5				OV - Ovarian serous cystadenocarcinoma(108;0.121)		CACAGAGAACGCTGGGACATT	0.428													29	42					0	0	1	0	0	A	60619860	G	A	60619860	3	1	81	1	0	0	0	0	1	0	0	0	4523	1087	38	1	605	1	DHRS7	14	60619860	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	784468	60619860	46729680	10555	14171											
PPM1A	5494	broad.mit.edu	37	14	60756575	60756575	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:60756575G>A	ENST00000395076.4	+	4	1434	c.1004G>A	c.(1003-1005)cGc>cAc	p.R335H	PPM1A_ENST00000529574.1_Missense_Mutation_p.R335H|PPM1A_ENST00000325642.3_Missense_Mutation_p.R408H	NM_021003.4	NP_066283.1	P35813	PPM1A_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1A	335					cell cycle arrest|insulin receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway|protein dephosphorylation|Wnt receptor signaling pathway	cytosol|nucleus|protein serine/threonine phosphatase complex	magnesium ion binding|manganese ion binding|protein serine/threonine phosphatase activity|signal transducer activity	p.R335H(1)		cervix(1)|endometrium(1)|large_intestine(8)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(108;0.046)		CATGTGATGCGCACATTAGCG	0.433													5	17					0	0	1	0	0	A	60756575	G	A	60756575	3	1	81	1	0	0	0	0	1	0	0	0	12384	1087	38	1	1260	1	PPM1A	14	60756575	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	136715	60756575	46592965	10556	14172											
SIX4	51804	broad.mit.edu	37	14	61186556	61186556	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:61186556C>T	ENST00000216513.4	-	2	1530	c.1471G>A	c.(1471-1473)Gca>Aca	p.A491T		NM_017420.4	NP_059116.3	Q9UIU6	SIX4_HUMAN	SIX homeobox 4	491						nucleus				breast(5)|endometrium(1)|large_intestine(11)|liver(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28				OV - Ovarian serous cystadenocarcinoma(108;0.0275)		TGGCTGTTTGCTCCGGAATTG	0.483													7	101					0	0	1	0	0	T	61186556	C	T	61186556	3	4	81	1	0	0	0	0	1	0	0	0	14404	797	28	2	882	2	SIX4	14	61186556	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	429981	61186556	46162984	10557	14173											
SIX4	51804	broad.mit.edu	37	14	61190785	61190785	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:61190785G>T	ENST00000216513.4	-	1	67	c.8C>A	c.(7-9)tCt>tAt	p.S3Y		NM_017420.4	NP_059116.3	Q9UIU6	SIX4_HUMAN	SIX homeobox 4	3						nucleus				breast(5)|endometrium(1)|large_intestine(11)|liver(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28				OV - Ovarian serous cystadenocarcinoma(108;0.0275)		GGGGGAGGAAGAGGACATTTT	0.562													6	80					0.0215528	0.0221217	1	1	0	T	61190785	G	T	61190785	3	4	81	1	0	0	0	0	1	0	0	0	14404	942	33	4	2349	4	SIX4	14	61190785	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	4229	61190785	46158755	10558	14174											
SLC38A6	145389	broad.mit.edu	37	14	61518548	61518548	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:61518548T>C	ENST00000354886.2	+	14	1258	c.1094T>C	c.(1093-1095)tTc>tCc	p.F365S	SLC38A6_ENST00000267488.4_Missense_Mutation_p.F365S|SLC38A6_ENST00000456840.2_Missense_Mutation_p.F342S	NM_001172702.1	NP_001166173.1	Q8IZM9	S38A6_HUMAN	solute carrier family 38, member 6	365					amino acid transport|sodium ion transport	integral to membrane				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(108;0.0981)		AATTTTCCATTCTCATGGATT	0.323													5	77					0	0	1	0	0	C	61518548	T	C	61518548	3	2	81	1	0	0	0	0	1	0	0	0	14663	1783	62	3	1148	3	SLC38A6	14	61518548	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	327763	61518548	45830992	10559	14175											
PRKCH	5583	broad.mit.edu	37	14	61952287	61952287	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:61952287G>A	ENST00000332981.5	+	10	1731	c.1346G>A	c.(1345-1347)cGt>cAt	p.R449H	PRKCH_ENST00000555082.1_Missense_Mutation_p.R288H	NM_006255.3	NP_006246.2	P24723	KPCL_HUMAN	protein kinase C, eta	449	Protein kinase.				intracellular signal transduction|platelet activation	cytosol|plasma membrane	ATP binding|enzyme binding|metal ion binding|protein kinase C activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(4)|ovary(2)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25				OV - Ovarian serous cystadenocarcinoma(108;0.045)|BRCA - Breast invasive adenocarcinoma(234;0.0906)|KIRC - Kidney renal clear cell carcinoma(182;0.182)		CAGAAGTCTCGTCGTTTTGAT	0.443													94	136					0	0	1	0	0	A	61952287	G	A	61952287	3	1	81	1	0	0	0	0	1	0	0	0	12565	1145	40	1	1384	1	PRKCH	14	61952287	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	433739	61952287	45397253	10560	14176											
PRKCH	5583	broad.mit.edu	37	14	61997175	61997175	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:61997175C>T	ENST00000556347.1	+	2	137	c.137C>T	c.(136-138)gCg>gTg	p.A46V	PRKCH_ENST00000332981.5_Silent_p.G541G|PRKCH_ENST00000555082.1_Silent_p.G380G																							GGGCAATGGGCGTGTTGCTCT	0.517													54	102					0	0	1	0	0	T	61997175	C	T	61997175	3	4	81	1	0	0	0	0	1	0	0	0	12565	755	27	1	1669	1	PRKCH	14	61997175	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	44888	61997175	45352365	10561	14177											
HIF1A	3091	broad.mit.edu	37	14	62204914	62204914	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:62204914A>G	ENST00000394997.1	+	10	1627	c.1362A>G	c.(1360-1362)ttA>ttG	p.L454L	HIF1A_ENST00000337138.4_Silent_p.L453L|HIF1A-AS2_ENST00000554254.1_lincRNA|HIF1A_ENST00000557538.1_Silent_p.L394L|HIF1A_ENST00000323441.6_Silent_p.L453L|HIF1A_ENST00000539097.1_Silent_p.L477L|RP11-618G20.1_ENST00000555937.1_RNA			Q16665	HIF1A_HUMAN	hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)	453	ODD.				cellular response to hypoxia|collagen metabolic process|connective tissue replacement involved in inflammatory response wound healing|elastin metabolic process|epithelial to mesenchymal transition|oxygen homeostasis|positive regulation of chemokine production|positive regulation of epithelial cell migration|positive regulation of hormone biosynthetic process|positive regulation of nitric-oxide synthase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation vascular endothelial growth factor production|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|regulation of transforming growth factor-beta2 production	cytoplasm|nucleolus|transcription factor complex	histone acetyltransferase binding|Hsp90 protein binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding			breast(2)|endometrium(8)|kidney(6)|large_intestine(3)|lung(4)	23				OV - Ovarian serous cystadenocarcinoma(108;1.62e-09)|BRCA - Breast invasive adenocarcinoma(234;0.189)		TGTCTCCATTACCCACCGCTG	0.418													8	86					0	0	1	0	0	G	62204914	A	G	62204914	2	3	81	1	0	0	0	0	0	0	0	1	7144	388	14	3		3	HIF1A	14	62204914	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	207739	62204914	45144626	10562	14178											
SNAPC1	6617	broad.mit.edu	37	14	62259551	62259551	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:62259551G>A	ENST00000216294.4	+	9	1107	c.1003G>A	c.(1003-1005)Gat>Aat	p.D335N		NM_003082.3	NP_003073.1	Q16533	SNPC1_HUMAN	small nuclear RNA activating complex, polypeptide 1, 43kDa	335					regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)	13				OV - Ovarian serous cystadenocarcinoma(108;0.0639)|BRCA - Breast invasive adenocarcinoma(234;0.186)		ACACAAGGAAGATAAACCTTT	0.289													27	47					0	0	1	0	0	A	62259551	G	A	62259551	3	1	81	1	0	0	0	0	1	0	0	0	14888	942	33	2	1037	2	SNAPC1	14	62259551	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	54637	62259551	45089989	10563	14179											
KCNH5	27133	broad.mit.edu	37	14	63269221	63269221	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:63269221C>T	ENST00000322893.7	-	9	1916	c.1648G>A	c.(1648-1650)Gct>Act	p.A550T	KCNH5_ENST00000394968.1_Missense_Mutation_p.A492T|KCNH5_ENST00000420622.2_Missense_Mutation_p.A550T	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	550					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		AATCGAAAAGCAGGATGTTCA	0.493													24	24					0	0	1	0	0	T	63269221	C	T	63269221	3	4	81	1	0	0	0	0	1	0	0	0	8079	710	25	2	1364	2	KCNH5	14	63269221	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1009670	63269221	44080319	10564	14180											
RHOJ	57381	broad.mit.edu	37	14	63747715	63747715	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:63747715C>A	ENST00000316754.3	+	3	726	c.264C>A	c.(262-264)ctC>ctA	p.L88L	RHOJ_ENST00000555125.1_Silent_p.L88L	NM_020663.4	NP_065714.1	Q9H4E5	RHOJ_HUMAN	ras homolog family member J	88					actin cytoskeleton organization|regulation of cell shape|regulation of small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding|GTPase activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|upper_aerodigestive_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(108;0.00326)|all cancers(60;0.031)|BRCA - Breast invasive adenocarcinoma(234;0.119)		TGAGGCCACTCTCCTACCCCA	0.517													31	40					5.60225e-13	7.04216e-13	1	1	0	A	63747715	C	A	63747715	2	1	81	1	0	0	0	0	0	0	0	1	13391	900	32	4		4	RHOJ	14	63747715	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	478494	63747715	43601825	10565	14181											
PPP2R5E	5529	broad.mit.edu	37	14	63862003	63862003	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:63862003C>T	ENST00000337537.3	-	7	1283	c.681G>A	c.(679-681)agG>agA	p.R227R	PPP2R5E_ENST00000553266.1_5'UTR|PPP2R5E_ENST00000555899.1_Splice_Site_p.R227R|PPP2R5E_ENST00000422769.2_Splice_Site_p.R151R	NM_001282179.1|NM_001282180.1|NM_001282181.1|NM_001282182.1|NM_006246.2	NP_001269108.1|NP_001269109.1|NP_001269110.1|NP_001269111.1|NP_006237.1	Q16537	2A5E_HUMAN	protein phosphatase 2, regulatory subunit B', epsilon isoform	227					signal transduction	cytoplasm|intracellular membrane-bounded organelle|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)	15				OV - Ovarian serous cystadenocarcinoma(108;0.00197)|all cancers(60;0.0153)|BRCA - Breast invasive adenocarcinoma(234;0.128)		CATAAACAAACCTGAGAGAAG	0.453													25	50					0	0	1	0	0	T	63862003	C	T	63862003	5	4	81	1	0	0	0	0	0	0	1	0	12445	521	18	2	754	2	PPP2R5E	14	63862003	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	114288	63862003	43487537	10566	14182											
SGPP1	81537	broad.mit.edu	37	14	64152887	64152887	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:64152887C>A	ENST00000247225.6	-	3	1356	c.1262G>T	c.(1261-1263)gGa>gTa	p.G421V		NM_030791.2	NP_110418.1	Q9BX95	SGPP1_HUMAN	sphingosine-1-phosphate phosphatase 1	421						endoplasmic reticulum membrane|integral to membrane	dihydrosphingosine-1-phosphate phosphatase activity|sphingosine-1-phosphate phosphatase activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(4)|skin(2)	10				OV - Ovarian serous cystadenocarcinoma(108;0.0056)|all cancers(60;0.0141)|BRCA - Breast invasive adenocarcinoma(234;0.103)		ACCAACCATTCCATAGGTAAT	0.343													19	34					2.94398e-08	3.49414e-08	1	1	0	A	64152887	C	A	64152887	3	1	81	1	0	0	0	0	1	0	0	0	14273	855	30	5	67	5	SGPP1	14	64152887	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	290884	64152887	43196653	10567	14183											
SYNE2	23224	broad.mit.edu	37	14	64453335	64453335	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:64453335G>T	ENST00000358025.3	+	19	2543	c.2313G>T	c.(2311-2313)aaG>aaT	p.K771N	SYNE2_ENST00000344113.4_Splice_Site_p.K771N|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000554584.1_Splice_Site_p.K771N	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	771					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		AATCTTTGAAGGTATGTGTGT	0.343													35	61					2.42023e-17	3.11933e-17	1	1	0	T	64453335	G	T	64453335	5	4	81	1	0	0	0	0	0	0	1	0	15503	1014	35	4	2383	4	SYNE2	14	64453335	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	300448	64453335	42896205	10568	14184											
SYNE2	23224	broad.mit.edu	37	14	64465654	64465654	+	Translation_Start_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:64465654C>A	ENST00000357395.3	+	0	3606				SYNE2_ENST00000358025.3_Missense_Mutation_p.L1126I|SYNE2_ENST00000344113.4_Missense_Mutation_p.L1126I|SYNE2_ENST00000554584.1_Missense_Mutation_p.L1126I			Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2						centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		CAGAGATATTCTTGAACACCA	0.393													40	62					5.75399e-11	7.08834e-11	1	1	0	A	64465654	C	A	64465654	1	1	81	1	0	0	0	0	0	0	0	0	15503	913	32	4		4	SYNE2	14	64465654	Translation_Start_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	12319	64465654	42883886	10569	14185											
SYNE2	23224	broad.mit.edu	37	14	64469558	64469558	+	Nonsense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:64469558A>T	ENST00000358025.3	+	30	4137	c.3907A>T	c.(3907-3909)Aaa>Taa	p.K1303*	SYNE2_ENST00000344113.4_Nonsense_Mutation_p.K1303*|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000554584.1_Nonsense_Mutation_p.K1303*	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	1303					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TATTATACTGAAATACAAAAC	0.388													6	51					0	0	1	0	0	T	64469558	A	T	64469558	4	4	81	1	0	0	0	0	0	1	0	0	15503	247	9	5	4021	5	SYNE2	14	64469558	Nonsense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	3904	64469558	42879982	10570	14186											
SYNE2	23224	broad.mit.edu	37	14	64473928	64473928	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:64473928T>C	ENST00000358025.3	+	31	4795	c.4565T>C	c.(4564-4566)tTg>tCg	p.L1522S	SYNE2_ENST00000344113.4_Missense_Mutation_p.L1522S|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000554584.1_Missense_Mutation_p.L1522S	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	1522					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		ACCAAAGCCTTGGTCACCGAA	0.378													79	106					0	0	1	0	0	C	64473928	T	C	64473928	3	2	81	1	0	0	0	0	1	0	0	0	15503	1821	63	3	4683	3	SYNE2	14	64473928	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	4370	64473928	42875612	10571	14187											
SYNE2	23224	broad.mit.edu	37	14	64497763	64497763	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:64497763T>C	ENST00000358025.3	+	45	7139	c.6909T>C	c.(6907-6909)gaT>gaC	p.D2303D	SYNE2_ENST00000344113.4_Silent_p.D2303D|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000554584.1_Silent_p.D2303D	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	2303					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		GTTTACAAGATGGCACATTAA	0.328													15	62					0	0	1	0	0	C	64497763	T	C	64497763	2	2	81	1	0	0	0	0	0	0	0	1	15503	1461	51	3		3	SYNE2	14	64497763	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	23835	64497763	42851777	10572	14188											
SYNE2	23224	broad.mit.edu	37	14	64591874	64591874	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:64591874C>A	ENST00000357395.3	+	72	13799	c.2655C>A	c.(2653-2655)acC>acA	p.T885T	SYNE2_ENST00000358025.3_Silent_p.T4500T|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000344113.4_Silent_p.T4500T|SYNE2_ENST00000555002.1_Silent_p.T1134T|SYNE2_ENST00000554584.1_Silent_p.T4451T|SYNE2_ENST00000394768.2_Silent_p.T885T			Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	4500					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		AACTGAAAACCTATACCACCC	0.398													4	57					0.00909568	0.00944708	1	1	0	A	64591874	C	A	64591874	2	1	81	1	0	0	0	0	0	0	0	1	15503	668	24	4		4	SYNE2	14	64591874	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	94111	64591874	42757666	10573	14189											
SYNE2	23224	broad.mit.edu	37	14	64596583	64596583	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:64596583A>G	ENST00000357395.3	+	76	14402	c.3258A>G	c.(3256-3258)ttA>ttG	p.L1086L	SYNE2_ENST00000358025.3_Silent_p.L4701L|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000344113.4_Silent_p.L4701L|SYNE2_ENST00000555002.1_Silent_p.L1335L|SYNE2_ENST00000554584.1_Silent_p.L4618L|SYNE2_ENST00000394768.2_Silent_p.L1086L			Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	4701					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		GGCTTCATTTACCTTATGCTT	0.458													24	36					0	0	1	0	0	G	64596583	A	G	64596583	2	3	81	1	0	0	0	0	0	0	0	1	15503	388	14	3		3	SYNE2	14	64596583	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	4709	64596583	42752957	10574	14190											
SYNE2	23224	broad.mit.edu	37	14	64606673	64606673	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:64606673C>T	ENST00000357395.3	+	81	15157	c.4013C>T	c.(4012-4014)tCg>tTg	p.S1338L	SYNE2_ENST00000358025.3_Missense_Mutation_p.S4953L|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000344113.4_Missense_Mutation_p.S4953L|SYNE2_ENST00000555002.1_Missense_Mutation_p.S1587L|SYNE2_ENST00000554584.1_Missense_Mutation_p.S4870L|SYNE2_ENST00000394768.2_Missense_Mutation_p.S1338L			Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	4953					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	p.S4953L(1)		NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		AACAGAGATTCGGATCAGTTA	0.378													26	43					0	0	1	0	0	T	64606673	C	T	64606673	3	4	81	1	0	0	0	0	1	0	0	0	15503	893	31	1	15172	1	SYNE2	14	64606673	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	10090	64606673	42742867	10575	14191											
SYNE2	23224	broad.mit.edu	37	14	64608684	64608684	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:64608684C>T	ENST00000357395.3	+	83	15483	c.4339C>T	c.(4339-4341)Cgt>Tgt	p.R1447C	SYNE2_ENST00000358025.3_Missense_Mutation_p.R5062C|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000344113.4_Missense_Mutation_p.R5062C|SYNE2_ENST00000555002.1_Missense_Mutation_p.R1696C|SYNE2_ENST00000554584.1_Missense_Mutation_p.R4979C|SYNE2_ENST00000394768.2_Missense_Mutation_p.R1447C			Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	5062					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		ATTGCCGTCTCGTAAAGCAAT	0.373													9	22					0	0	1	0	0	T	64608684	C	T	64608684	3	4	81	1	0	0	0	0	1	0	0	0	15503	884	31	1	15506	1	SYNE2	14	64608684	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2011	64608684	42740856	10576	14192											
SYNE2	23224	broad.mit.edu	37	14	64619315	64619315	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:64619315G>T	ENST00000357395.3	+	86	15972	c.4828G>T	c.(4828-4830)Gca>Tca	p.A1610S	SYNE2_ENST00000358025.3_Missense_Mutation_p.A5225S|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000344113.4_Missense_Mutation_p.A5225S|SYNE2_ENST00000555002.1_Missense_Mutation_p.A1859S|SYNE2_ENST00000554584.1_Missense_Mutation_p.A5142S|SYNE2_ENST00000394768.2_Missense_Mutation_p.A1610S			Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	5225					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TAAATCCAAAGCACTAGATGA	0.353													19	29					2.37509e-13	2.99406e-13	1	1	0	T	64619315	G	T	64619315	3	4	81	1	0	0	0	0	1	0	0	0	15503	971	34	4	16007	4	SYNE2	14	64619315	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	10631	64619315	42730225	10577	14193											
SYNE2	23224	broad.mit.edu	37	14	64630256	64630256	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:64630256C>T	ENST00000357395.3	+	90	16735	c.5591C>T	c.(5590-5592)gCt>gTt	p.A1864V	SYNE2_ENST00000358025.3_Missense_Mutation_p.A5479V|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000344113.4_Missense_Mutation_p.A5479V|SYNE2_ENST00000555002.1_Missense_Mutation_p.A2113V|SYNE2_ENST00000554584.1_Missense_Mutation_p.A5396V|SYNE2_ENST00000394768.2_Missense_Mutation_p.A1864V			Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	5479					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		CAGAGGGCTGCTTATTTGGAA	0.473													15	31					0	0	1	0	0	T	64630256	C	T	64630256	3	4	81	1	0	0	0	0	1	0	0	0	15503	797	28	2	16786	2	SYNE2	14	64630256	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	10941	64630256	42719284	10578	14194											
ESR2	2100	broad.mit.edu	37	14	64700034	64700034	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:64700034C>T	ENST00000341099.4	-	9	1831	c.1414G>A	c.(1414-1416)Ggc>Agc	p.G472S	ESR2_ENST00000555278.1_Intron|ESR2_ENST00000557772.1_3'UTR|ESR2_ENST00000267525.6_Missense_Mutation_p.G381S|ESR2_ENST00000542956.1_Intron|ESR2_ENST00000555483.1_5'UTR|ESR2_ENST00000554572.1_Intron|ESR2_ENST00000358599.5_Intron|ESR2_ENST00000553796.1_Intron|ESR2_ENST00000357782.2_Intron|ESR2_ENST00000353772.3_Intron	NM_001437.2	NP_001428.1	Q92731	ESR2_HUMAN	estrogen receptor 2 (ER beta)	472	Steroid-binding.				cell-cell signaling|negative regulation of cell growth|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	mitochondrion|nucleoplasm	enzyme binding|estrogen receptor activity|receptor antagonist activity|sequence-specific DNA binding transcription factor activity|steroid binding|transcription coactivator activity|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	23				all cancers(60;0.00916)|OV - Ovarian serous cystadenocarcinoma(108;0.0111)|BRCA - Breast invasive adenocarcinoma(234;0.0437)	Bicalutamide(DB01128)|Estradiol(DB00783)|Estramustine(DB01196)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Trilostane(DB01108)	TGTTCCATGCCCTTGTTACTA	0.552													5	94					0	0	1	0	0	T	64700034	C	T	64700034	3	4	81	1	0	0	0	0	1	0	0	0	5285	623	22	2	268	2	ESR2	14	64700034	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	69778	64700034	42649506	10579	14195											
MTHFD1	4522	broad.mit.edu	37	14	64879239	64879239	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:64879239C>T	ENST00000545908.1	+	4	633	c.404C>T	c.(403-405)tCt>tTt	p.S135F	MTHFD1_ENST00000216605.8_Missense_Mutation_p.S79F			P11586	C1TC_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase	79	Methylenetetrahydrofolate dehydrogenase and cyclohydrolase.				folic acid metabolic process|folic acid-containing compound biosynthetic process|histidine biosynthetic process|methionine biosynthetic process|one-carbon metabolic process|purine nucleotide biosynthetic process	cytosol|mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase|methylenetetrahydrofolate dehydrogenase (NADP+) activity|protein binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	30				OV - Ovarian serous cystadenocarcinoma(108;8.7e-12)|all cancers(60;3.29e-11)|BRCA - Breast invasive adenocarcinoma(234;0.0488)	NADH(DB00157)|Tetrahydrofolic acid(DB00116)	ACCACAGAATCTGAGGTGAGC	0.423													19	36					0	0	1	0	0	T	64879239	C	T	64879239	3	4	81	1	0	0	0	0	1	0	0	0	9975	913	32	2	250	2	MTHFD1	14	64879239	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	179205	64879239	42470301	10580	14196											
MTHFD1	4522	broad.mit.edu	37	14	64916229	64916229	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:64916229C>T	ENST00000545908.1	+	24	2743	c.2514C>T	c.(2512-2514)gcC>gcT	p.A838A	MTHFD1_ENST00000556284.1_3'UTR|ZBTB25_ENST00000555424.1_3'UTR|ZBTB25_ENST00000555220.1_3'UTR|MTHFD1_ENST00000216605.8_Silent_p.A782A			P11586	C1TC_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase	782	Formyltetrahydrofolate synthetase.				folic acid metabolic process|folic acid-containing compound biosynthetic process|histidine biosynthetic process|methionine biosynthetic process|one-carbon metabolic process|purine nucleotide biosynthetic process	cytosol|mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase|methylenetetrahydrofolate dehydrogenase (NADP+) activity|protein binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	30				OV - Ovarian serous cystadenocarcinoma(108;8.7e-12)|all cancers(60;3.29e-11)|BRCA - Breast invasive adenocarcinoma(234;0.0488)	NADH(DB00157)|Tetrahydrofolic acid(DB00116)	CTTTTGATGCCGTGAAGTGCA	0.547													25	39					0	0	1	0	0	T	64916229	C	T	64916229	2	4	81	1	0	0	0	0	0	0	0	1	9975	639	23	1		1	MTHFD1	14	64916229	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	36990	64916229	42433311	10581	14197											
MTHFD1	4522	broad.mit.edu	37	14	64920503	64920503	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:64920503C>T	ENST00000545908.1	+	25	2886	c.2657C>T	c.(2656-2658)gCa>gTa	p.A886V	MTHFD1_ENST00000556284.1_3'UTR|ZBTB25_ENST00000555424.1_Intron|ZBTB25_ENST00000555220.1_Intron|MTHFD1_ENST00000216605.8_Missense_Mutation_p.A830V			P11586	C1TC_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase	830	Formyltetrahydrofolate synthetase.				folic acid metabolic process|folic acid-containing compound biosynthetic process|histidine biosynthetic process|methionine biosynthetic process|one-carbon metabolic process|purine nucleotide biosynthetic process	cytosol|mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase|methylenetetrahydrofolate dehydrogenase (NADP+) activity|protein binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	30				OV - Ovarian serous cystadenocarcinoma(108;8.7e-12)|all cancers(60;3.29e-11)|BRCA - Breast invasive adenocarcinoma(234;0.0488)	NADH(DB00157)|Tetrahydrofolic acid(DB00116)	AGGATCATTGCACAGAAGATC	0.438													16	28					0	0	1	0	0	T	64920503	C	T	64920503	3	4	81	1	0	0	0	0	1	0	0	0	9975	710	25	2	2587	2	MTHFD1	14	64920503	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	4274	64920503	42429037	10582	14198	70	2									
MTHFD1	4522	broad.mit.edu	37	14	64920513	64920513	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:64920513C>T	ENST00000545908.1	+	25	2896	c.2667C>T	c.(2665-2667)atC>atT	p.I889I	MTHFD1_ENST00000556284.1_3'UTR|ZBTB25_ENST00000555424.1_Intron|ZBTB25_ENST00000555220.1_Intron|MTHFD1_ENST00000216605.8_Silent_p.I833I			P11586	C1TC_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase	833	Formyltetrahydrofolate synthetase.				folic acid metabolic process|folic acid-containing compound biosynthetic process|histidine biosynthetic process|methionine biosynthetic process|one-carbon metabolic process|purine nucleotide biosynthetic process	cytosol|mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase|methylenetetrahydrofolate dehydrogenase (NADP+) activity|protein binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	30				OV - Ovarian serous cystadenocarcinoma(108;8.7e-12)|all cancers(60;3.29e-11)|BRCA - Breast invasive adenocarcinoma(234;0.0488)	NADH(DB00157)|Tetrahydrofolic acid(DB00116)	CACAGAAGATCTATGGAGCAG	0.428													7	39					0	0	1	0	0	T	64920513	C	T	64920513	2	4	81	1	0	0	0	0	0	0	0	1	9975	903	32	2		2	MTHFD1	14	64920513	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	10	64920513	42429027	10583	14199	70	2									
AKAP5	9495	broad.mit.edu	37	14	64936301	64936301	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:64936301T>C	ENST00000394718.4	+	2	1567	c.1189T>C	c.(1189-1191)Tct>Cct	p.S397P	AKAP5_ENST00000320636.5_Missense_Mutation_p.S397P|ZBTB25_ENST00000555424.1_Intron|ZBTB25_ENST00000555220.1_Intron	NM_004857.3	NP_004848.3	P24588	AKAP5_HUMAN	A kinase (PRKA) anchor protein 5		PKA-RII subunit binding domain.				energy reserve metabolic process|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting|regulation of insulin secretion|signal transduction|synaptic transmission	cytosol	adenylate cyclase binding|calmodulin binding			endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|stomach(1)	13				all cancers(60;0.00749)|OV - Ovarian serous cystadenocarcinoma(108;0.0095)|BRCA - Breast invasive adenocarcinoma(234;0.0449)		TGAAACAGCCTCTTCTCTAGT	0.338													11	153					0	0	1	0	0	C	64936301	T	C	64936301	3	2	81	1	0	0	0	0	1	0	0	0	451	1551	54	3	1191	3	AKAP5	14	64936301	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	15788	64936301	42413239	10584	14200											
HSPA2	3306	broad.mit.edu	37	14	65008248	65008248	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:65008248C>T	ENST00000247207.6	+	1	1063	c.681C>T	c.(679-681)ggC>ggT	p.G227G	HSPA2_ENST00000394709.1_Silent_p.G227G|HSPA2_ENST00000554883.1_3'UTR	NM_021979.3	NP_068814.2	P54652	HSP72_HUMAN	heat shock 70kDa protein 2	227					response to unfolded protein|spermatid development	cell surface	ATP binding|unfolded protein binding			breast(1)|endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	22				all cancers(60;0.00515)|OV - Ovarian serous cystadenocarcinoma(108;0.00584)|BRCA - Breast invasive adenocarcinoma(234;0.045)		CCACGGCCGGCGACACCCACC	0.602													25	54					0	0	1	0	0	T	65008248	C	T	65008248	2	4	81	1	0	0	0	0	0	0	0	1	7454	755	27	1		1	HSPA2	14	65008248	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	71947	65008248	42341292	10585	14201											
PLEKHG3	26030	broad.mit.edu	37	14	65197870	65197870	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:65197870C>T	ENST00000247226.7	+	5	972	c.664C>T	c.(664-666)Cac>Tac	p.H222Y	PLEKHG3_ENST00000394691.1_Missense_Mutation_p.H278Y	NM_015549.1	NP_056364.1	A1L390	PKHG3_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 3	278	DH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2)	29				all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)		GAGGCATGAGCACGCGGTCCG	0.622													22	31					0	0	1	0	0	T	65197870	C	T	65197870	3	4	81	1	0	0	0	0	1	0	0	0	12118	710	25	2	678	2	PLEKHG3	14	65197870	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	189622	65197870	42151670	10586	14202											
PLEKHG3	26030	broad.mit.edu	37	14	65207966	65207966	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:65207966C>T	ENST00000247226.7	+	14	1871	c.1563C>T	c.(1561-1563)agC>agT	p.S521S	PLEKHG3_ENST00000394691.1_Silent_p.S577S|PLEKHG3_ENST00000471182.2_Silent_p.S110S|PLEKHG3_ENST00000484731.2_Silent_p.S82S	NM_015549.1	NP_056364.1	A1L390	PKHG3_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 3	577					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2)	29				all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)		CCCTGAGCAGCGAGGAGGAAG	0.617													8	78					0	0	1	0	0	T	65207966	C	T	65207966	2	4	81	1	0	0	0	0	0	0	0	1	12118	767	27	1		1	PLEKHG3	14	65207966	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	10096	65207966	42141574	10587	14203											
PLEKHG3	26030	broad.mit.edu	37	14	65209908	65209908	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:65209908C>T	ENST00000247226.7	+	15	3287	c.2979C>T	c.(2977-2979)gaC>gaT	p.D993D	PLEKHG3_ENST00000394691.1_Silent_p.D1049D|PLEKHG3_ENST00000471182.2_Silent_p.D582D|PLEKHG3_ENST00000492928.1_Intron|PLEKHG3_ENST00000484731.2_Silent_p.D554D	NM_015549.1	NP_056364.1	A1L390	PKHG3_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 3	1049					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2)	29				all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)		GCTGGCCCGACGTCCGTGAGC	0.721													32	39					0	0	1	0	0	T	65209908	C	T	65209908	2	4	81	1	0	0	0	0	0	0	0	1	12118	535	19	1		1	PLEKHG3	14	65209908	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1942	65209908	42139632	10588	14204											
SPTB	6710	broad.mit.edu	37	14	65240029	65240029	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:65240029T>G	ENST00000389722.3	-	24	5140	c.5087A>C	c.(5086-5088)aAg>aCg	p.K1696T	SPTB_ENST00000389720.3_Missense_Mutation_p.K1696T|SPTB_ENST00000556626.1_Missense_Mutation_p.K1696T|SPTB_ENST00000542895.1_Missense_Mutation_p.K1696T|SPTB_ENST00000389721.5_Missense_Mutation_p.K1696T	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	1696					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		GGTCTCCCGCTTGAGCTGGAA	0.572													4	58					0	0	1	0	0	G	65240029	T	G	65240029	3	3	81	1	0	0	0	0	1	0	0	0	15174	1609	56	5	2016	5	SPTB	14	65240029	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	30121	65240029	42109511	10589	14205											
SPTB	6710	broad.mit.edu	37	14	65263287	65263287	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:65263287G>A	ENST00000389722.3	-	10	1382	c.1329C>T	c.(1327-1329)cgC>cgT	p.R443R	SPTB_ENST00000389720.3_Silent_p.R443R|SPTB_ENST00000556626.1_Silent_p.R443R|SPTB_ENST00000542895.1_Silent_p.R443R|SPTB_ENST00000389721.5_Silent_p.R443R	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	443					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		GGGCCACGAGGCGCTGGTTTT	0.587													20	31					0	0	1	0	0	A	65263287	G	A	65263287	2	1	81	1	0	0	0	0	0	0	0	1	15174	1190	42	2		2	SPTB	14	65263287	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	23258	65263287	42086253	10590	14206											
SPTB	6710	broad.mit.edu	37	14	65264467	65264467	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:65264467G>T	ENST00000389722.3	-	9	1215	c.1162C>A	c.(1162-1164)Cta>Ata	p.L388I	SPTB_ENST00000389720.3_Missense_Mutation_p.L388I|SPTB_ENST00000556626.1_Missense_Mutation_p.L388I|SPTB_ENST00000542895.1_Missense_Mutation_p.L388I|SPTB_ENST00000389721.5_Missense_Mutation_p.L388I	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	388					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		TCAGACACTAGTTTCCCATCG	0.453													9	109					1.12685e-05	1.27052e-05	1	1	0	T	65264467	G	T	65264467	3	4	81	1	0	0	0	0	1	0	0	0	15174	1020	36	4	6001	4	SPTB	14	65264467	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1180	65264467	42085073	10591	14207											
CHURC1	91612	broad.mit.edu	37	14	65381186	65381186	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:65381186G>A	ENST00000607599.1	+	1	108	c.54G>A	c.(52-54)tgG>tgA	p.W18*	CHURC1_ENST00000548752.2_Nonsense_Mutation_p.W18*|CHURC1_ENST00000549115.1_Nonsense_Mutation_p.W18*|CHURC1_ENST00000359118.2_5'UTR|CHURC1_ENST00000552002.2_5'UTR	NM_001204063.1|NM_145165.3	NP_001190992.1|NP_660148.3			churchill domain containing 1											breast(1)|pancreas(1)	2				all cancers(60;0.00119)|OV - Ovarian serous cystadenocarcinoma(108;0.0056)|BRCA - Breast invasive adenocarcinoma(234;0.00976)		GGAAGCGTTGGAGGACATTCC	0.622													31	65					0	0	1	0	0	A	65381186	G	A	65381186	4	1	81	1	0	0	0	0	0	1	0	0	3439	1189	41	2		2	CHURC1	14	65381186	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	116719	65381186	41968354	10592	14208											
MAX	4149	broad.mit.edu	37	14	65472930	65472930	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:65472930G>T	ENST00000341653.2	-	4	291	c.244C>A	c.(244-246)Cat>Aat	p.H82N	FNTB_ENST00000447296.2_Intron|FNTB_ENST00000542227.1_Intron|FNTB_ENST00000555742.1_Intron|FNTB_ENST00000246166.2_Intron|CHURC1-FNTB_ENST00000549987.1_Intron	NM_197957.3	NP_932061.1	P61244	MAX_HUMAN	MYC associated factor X	0	Leucine-zipper.				transcription from RNA polymerase II promoter	cytoplasm|MLL1 complex	sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	17				all cancers(60;0.000776)|OV - Ovarian serous cystadenocarcinoma(108;0.00359)|BRCA - Breast invasive adenocarcinoma(234;0.00999)		GATTAGCCATGGCAGAAAACA	0.368													17	122					4.7546e-09	5.70666e-09	1	1	0	T	65472930	G	T	65472930	3	4	81	1	0	0	0	0	1	0	0	0	9389	1348	47	5	11	5	MAX	14	65472930	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	91744	65472930	41876610	10593	14209											
FUT8	2530	broad.mit.edu	37	14	66028381	66028381	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:66028381G>A	ENST00000360689.5	+	3	1827	c.100G>A	c.(100-102)Gac>Aac	p.D34N	FUT8_ENST00000358307.2_Intron|FUT8_ENST00000394586.2_Missense_Mutation_p.D34N|FUT8_ENST00000394585.1_Missense_Mutation_p.D34N|FUT8_ENST00000557164.1_Intron	NM_004480.4|NM_178155.2	NP_004471.4|NP_835368.1	Q9BYC5	FUT8_HUMAN	fucosyltransferase 8 (alpha (1,6) fucosyltransferase)	34					in utero embryonic development|L-fucose catabolic process|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein glycosylation in Golgi|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	glycoprotein 6-alpha-L-fucosyltransferase activity|SH3 domain binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	22				all cancers(60;0.00109)|OV - Ovarian serous cystadenocarcinoma(108;0.00242)|BRCA - Breast invasive adenocarcinoma(234;0.0114)		ACGAGATAATGACCATCCTGA	0.468													57	62					0	0	1	0	0	A	66028381	G	A	66028381	3	1	81	1	0	0	0	0	1	0	0	0	6145	1290	45	2	102	2	FUT8	14	66028381	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	555451	66028381	41321159	10594	14210											
GPHN	10243	broad.mit.edu	37	14	67382747	67382747	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:67382747G>A	ENST00000478722.1	+	6	1538	c.417G>A	c.(415-417)acG>acA	p.T139T	GPHN_ENST00000459628.1_Silent_p.T121T|GPHN_ENST00000315266.5_Silent_p.T139T|GPHN_ENST00000544752.2_3'UTR|GPHN_ENST00000305960.9_Silent_p.T108T|GPHN_ENST00000543237.1_Silent_p.T152T	NM_020806.4	NP_065857.1	Q9NQX3	GEPH_HUMAN	gephyrin	139	MPT Mo-transferase.				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cell junction|cytoplasm|cytoskeleton|postsynaptic membrane	ATP binding|metal ion binding|nucleotidyltransferase activity			large_intestine(8)|liver(1)|ovary(2)|stomach(1)	12		all_cancers(7;0.0476)|all_hematologic(31;0.0116)		Epithelial(1;1.73e-08)|all cancers(60;3.15e-07)|OV - Ovarian serous cystadenocarcinoma(108;0.000275)|BRCA - Breast invasive adenocarcinoma(234;0.00323)|Colorectal(3;0.0938)|KIRC - Kidney renal clear cell carcinoma(182;0.184)		GAGGGAAAACGCTCATAATTA	0.378			T	MLL	AL								13	36					0	0	1	0	0	A	67382747	G	A	67382747	2	1	81	1	0	0	0	0	0	0	0	1	6650	1074	38	1		1	GPHN	14	67382747	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1354366	67382747	39966793	10595	14211											
GPHN	10243	broad.mit.edu	37	14	67579789	67579789	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:67579789C>T	ENST00000478722.1	+	16	2648	c.1527C>T	c.(1525-1527)caC>caT	p.H509H	GPHN_ENST00000315266.5_Silent_p.H476H|GPHN_ENST00000544752.2_3'UTR|GPHN_ENST00000305960.9_Silent_p.H445H|GPHN_ENST00000543237.1_Silent_p.H522H	NM_020806.4	NP_065857.1	Q9NQX3	GEPH_HUMAN	gephyrin	476	MPT adenylyltransferase.				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cell junction|cytoplasm|cytoskeleton|postsynaptic membrane	ATP binding|metal ion binding|nucleotidyltransferase activity			large_intestine(8)|liver(1)|ovary(2)|stomach(1)	12		all_cancers(7;0.0476)|all_hematologic(31;0.0116)		Epithelial(1;1.73e-08)|all cancers(60;3.15e-07)|OV - Ovarian serous cystadenocarcinoma(108;0.000275)|BRCA - Breast invasive adenocarcinoma(234;0.00323)|Colorectal(3;0.0938)|KIRC - Kidney renal clear cell carcinoma(182;0.184)		AAGGAACCCACATGGGCCCCT	0.463			T	MLL	AL								37	31					0	0	1	0	0	T	67579789	C	T	67579789	2	4	81	1	0	0	0	0	0	0	0	1	6650	477	17	2		2	GPHN	14	67579789	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	197042	67579789	39769751	10596	14212											
GPHN	10243	broad.mit.edu	37	14	67646313	67646313	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:67646313C>T	ENST00000478722.1	+	22	3219	c.2098C>T	c.(2098-2100)Ctt>Ttt	p.L700F	GPHN_ENST00000315266.5_Missense_Mutation_p.L667F|GPHN_ENST00000544752.2_3'UTR|GPHN_ENST00000305960.9_Missense_Mutation_p.L636F|GPHN_ENST00000543237.1_Missense_Mutation_p.L713F	NM_020806.4	NP_065857.1	Q9NQX3	GEPH_HUMAN	gephyrin	667	MPT adenylyltransferase.				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cell junction|cytoplasm|cytoskeleton|postsynaptic membrane	ATP binding|metal ion binding|nucleotidyltransferase activity			large_intestine(8)|liver(1)|ovary(2)|stomach(1)	12		all_cancers(7;0.0476)|all_hematologic(31;0.0116)		Epithelial(1;1.73e-08)|all cancers(60;3.15e-07)|OV - Ovarian serous cystadenocarcinoma(108;0.000275)|BRCA - Breast invasive adenocarcinoma(234;0.00323)|Colorectal(3;0.0938)|KIRC - Kidney renal clear cell carcinoma(182;0.184)		TGATGTAAAACTTGATCCTCG	0.393			T	MLL	AL								21	36					0	0	1	0	0	T	67646313	C	T	67646313	3	4	81	1	0	0	0	0	1	0	0	0	6650	565	20	2	2184	2	GPHN	14	67646313	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	66524	67646313	39703227	10597	14213											
PLEKHH1	57475	broad.mit.edu	37	14	68042713	68042713	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:68042713G>A	ENST00000329153.5	+	16	2475	c.2343G>A	c.(2341-2343)aaG>aaA	p.K781K		NM_020715.2	NP_065766.1	Q9ULM0	PKHH1_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 1	781	PH 2.					cytoskeleton	binding			endometrium(2)|kidney(4)|lung(12)|urinary_tract(1)	19				all cancers(60;0.000771)|OV - Ovarian serous cystadenocarcinoma(108;0.00502)|BRCA - Breast invasive adenocarcinoma(234;0.011)		TTGGCACCAAGCATGAAAAGG	0.547													16	40					0	0	1	0	0	A	68042713	G	A	68042713	2	1	81	1	0	0	0	0	0	0	0	1	12124	962	34	2		2	PLEKHH1	14	68042713	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	396400	68042713	39306827	10598	14214											
ARG2	384	broad.mit.edu	37	14	68112518	68112518	+	Splice_Site	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:68112518A>C	ENST00000261783.3	+	4	701	c.521A>C	c.(520-522)aAg>aCg	p.K174T	ARG2_ENST00000556491.1_Intron	NM_001172.3	NP_001163.1	P78540	ARGI2_HUMAN	arginase 2	174					arginine metabolic process|nitric oxide biosynthetic process|urea cycle	mitochondrial matrix	arginase activity|metal ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|ovary(1)|prostate(1)	11				all cancers(60;0.000582)|OV - Ovarian serous cystadenocarcinoma(108;0.00392)|BRCA - Breast invasive adenocarcinoma(234;0.00928)	L-Arginine(DB00125)|L-Ornithine(DB00129)	CTACAGGATAAGGTCAGTGGG	0.468													13	14					0	0	1	0	0	C	68112518	A	C	68112518	5	2	81	1	0	0	0	0	0	0	1	0	855	86	3	5	535	5	ARG2	14	68112518	Splice_Site	SNP	A	TCGA-DU-6392-01A-11D-1705-08	69805	68112518	39237022	10599	14215											
VTI1B	10490	broad.mit.edu	37	14	68118192	68118192	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:68118192T>C	ENST00000554659.1	-	6	950	c.609A>G	c.(607-609)acA>acG	p.T203T	ARG2_ENST00000261783.3_3'UTR	NM_006370.2	NP_006361.1	Q9UEU0	VTI1B_HUMAN	vesicle transport through interaction with t-SNAREs 1B	203					cell proliferation|cellular membrane fusion|intracellular protein transport|vesicle docking involved in exocytosis	endomembrane system|integral to membrane				endometrium(1)|large_intestine(2)|stomach(1)|upper_aerodigestive_tract(1)	5				all cancers(60;0.000344)|OV - Ovarian serous cystadenocarcinoma(108;0.00212)|BRCA - Breast invasive adenocarcinoma(234;0.00941)		GCTTGTTGGTTGTCACTCTAC	0.458													15	19					0	0	1	0	0	C	68118192	T	C	68118192	2	2	81	1	0	0	0	0	0	0	0	1	17296	1799	63	3		3	VTI1B	14	68118192	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	5674	68118192	39231348	10600	14216											
ZFYVE26	23503	broad.mit.edu	37	14	68222729	68222729	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:68222729G>A	ENST00000347230.4	-	36	6860	c.6722C>T	c.(6721-6723)gCc>gTc	p.A2241V	ZFYVE26_ENST00000557306.1_Missense_Mutation_p.A87V	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	2241					cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		ATGTTGGCAGGCAGCAATCAA	0.453													182	273					0	0	1	0	0	A	68222729	G	A	68222729	3	1	81	1	0	0	0	0	1	0	0	0	17726	1203	42	2	925	2	ZFYVE26	14	68222729	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	104537	68222729	39126811	10601	14217											
ZFYVE26	23503	broad.mit.edu	37	14	68251862	68251862	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:68251862C>A	ENST00000347230.4	-	19	3575	c.3437G>T	c.(3436-3438)aGc>aTc	p.S1146I	ZFYVE26_ENST00000555452.1_Missense_Mutation_p.S1146I	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	1146					cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		CATCTGCCTGCTGCCTGATGG	0.562													12	97					0.000978159	0.00104673	1	1	0	A	68251862	C	A	68251862	3	1	81	1	0	0	0	0	1	0	0	0	17726	797	28	4	4278	4	ZFYVE26	14	68251862	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	29133	68251862	39097678	10602	14218											
ZFYVE26	23503	broad.mit.edu	37	14	68252589	68252589	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:68252589G>A	ENST00000347230.4	-	18	3428	c.3290C>T	c.(3289-3291)gCa>gTa	p.A1097V	ZFYVE26_ENST00000555452.1_Missense_Mutation_p.A1097V	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	1097					cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		CAGCTCTAGTGCCTCTCTCAG	0.542													152	257					0	0	1	0	0	A	68252589	G	A	68252589	3	1	81	1	0	0	0	0	1	0	0	0	17726	1319	46	2	4429	2	ZFYVE26	14	68252589	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	727	68252589	39096951	10603	14219											
ZFYVE26	23503	broad.mit.edu	37	14	68274397	68274397	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:68274397G>A	ENST00000347230.4	-	5	742	c.604C>T	c.(604-606)Cgg>Tgg	p.R202W	ZFYVE26_ENST00000555452.1_Missense_Mutation_p.R202W	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	202					cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		TGCAAAGCCCGCAATGCCTTT	0.612													59	77					0	0	1	0	0	A	68274397	G	A	68274397	3	1	81	1	0	0	0	0	1	0	0	0	17726	1086	38	1	7167	1	ZFYVE26	14	68274397	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	21808	68274397	39075143	10604	14220											
ZFP36L1	677	broad.mit.edu	37	14	69256767	69256768	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:69256767_69256768insA	ENST00000439696.2	-	2	800_801	c.499_500insT	c.(499-501)tgcfs	p.C167fs	ZFP36L1_ENST00000555997.1_3'UTR|ZFP36L1_ENST00000336440.3_Frame_Shift_Ins_p.C167fs	NM_001244701.1|NM_004926.3	NP_001231630.1|NP_004917.2	Q07352	TISB_HUMAN	ZFP36 ring finger protein-like 1	167					regulation of mRNA stability	cytosol|nucleus	DNA binding|mRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.C167fs*66(1)		breast(4)|kidney(1)|large_intestine(1)|liver(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(1)	21				all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		CCCGTAGGGGCAAAAGCCGATG	0.678											OREG0022753	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	29	52	---	---	---	---						A	69256768	-	A	69256767	7	5	81	1	0	1	1	0	0	0	0	0	17704	710	25	0	520	0	ZFP36L1	14	69256767	Frame_Shift_Ins	INS	-	TCGA-DU-6392-01A-11D-1705-08	982370	69256767	38092773	10605	14221											
ZFP36L1	677	broad.mit.edu	37	14	69262515	69262515	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:69262515T>G	ENST00000408913.2	-	1	675	c.497A>C	c.(496-498)aAa>aCa	p.K166T				Q07352	TISB_HUMAN	ZFP36 ring finger protein-like 1	0					regulation of mRNA stability	cytosol|nucleus	DNA binding|mRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|kidney(1)|large_intestine(1)|liver(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(1)	21				all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		GAAACGTCATTTCGGGGACTT	0.592													14	65					0	0	1	0	0	G	69262515	T	G	69262515	3	3	81	1	0	0	0	0	1	0	0	0	17704	1841	64	5		5	ZFP36L1	14	69262515	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	5748	69262515	38087025	10606	14222											
ACTN1	87	broad.mit.edu	37	14	69387793	69387793	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:69387793G>T	ENST00000193403.6	-	3	653	c.270C>A	c.(268-270)atC>atA	p.I90I	ACTN1_ENST00000438964.2_Silent_p.I90I|ACTN1_ENST00000376839.3_Silent_p.I25I|ACTN1_ENST00000394419.4_Silent_p.I90I|ACTN1_ENST00000538545.2_Silent_p.I90I	NM_001102.3	NP_001093.1	P12814	ACTN1_HUMAN	actinin, alpha 1	90	Actin-binding.|CH 1.				focal adhesion assembly|negative regulation of cellular component movement|platelet activation|platelet degranulation|regulation of apoptosis	actin cytoskeleton|cytosol|extracellular region|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|sarcomere	actin binding|calcium ion binding|integrin binding|vinculin binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(9)|prostate(2)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(234;0.00605)|all cancers(60;0.00846)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		TGACGTTGGAGATCTTGTGCA	0.562													4	56					1	1	1	1	0	T	69387793	G	T	69387793	2	4	81	1	0	0	0	0	0	0	0	1	204	932	33	4		4	ACTN1	14	69387793	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	125278	69387793	37961747	10607	14223											
SLC39A9	55334	broad.mit.edu	37	14	69908877	69908877	+	Silent	SNP	C	C	T	rs150425244		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:69908877C>T	ENST00000336643.5	+	3	975	c.297C>T	c.(295-297)caC>caT	p.H99H	SLC39A9_ENST00000557046.1_Silent_p.H99H|SLC39A9_ENST00000555245.1_3'UTR|SLC39A9_ENST00000031146.4_Intron|SLC39A9_ENST00000556605.1_Silent_p.H99H	NM_018375.4	NP_060845.2	Q9NUM3	S39A9_HUMAN	solute carrier family 39, member 9	99					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			breast(1)|endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|skin(1)|stomach(1)	14				all cancers(60;0.00299)|BRCA - Breast invasive adenocarcinoma(234;0.0145)|OV - Ovarian serous cystadenocarcinoma(108;0.0373)		AGCACAGCCACGACCACACAC	0.463													56	73					0	0	1	0	0	T	69908877	C	T	69908877	2	4	81	1	0	0	0	0	0	0	0	1	14680	535	19	1		1	SLC39A9	14	69908877	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	521084	69908877	37440663	10608	14224											
SLC39A9	55334	broad.mit.edu	37	14	69908929	69908929	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:69908929G>A	ENST00000336643.5	+	3	1027	c.349G>A	c.(349-351)Gtt>Att	p.V117I	SLC39A9_ENST00000557046.1_Missense_Mutation_p.V117I|SLC39A9_ENST00000555245.1_3'UTR|SLC39A9_ENST00000031146.4_Intron|SLC39A9_ENST00000556605.1_Missense_Mutation_p.V117I	NM_018375.4	NP_060845.2	Q9NUM3	S39A9_HUMAN	solute carrier family 39, member 9	117					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			breast(1)|endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|skin(1)|stomach(1)	14				all cancers(60;0.00299)|BRCA - Breast invasive adenocarcinoma(234;0.0145)|OV - Ovarian serous cystadenocarcinoma(108;0.0373)		TCTGGGCTTCGTTTTCATGTT	0.488													18	159					0	0	1	0	0	A	69908929	G	A	69908929	3	1	81	1	0	0	0	0	1	0	0	0	14680	1145	40	1	359	1	SLC39A9	14	69908929	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	52	69908929	37440611	10609	14225											
SYNJ2BP	55333	broad.mit.edu	37	14	70842480	70842480	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:70842480G>T	ENST00000256366.4	-	3	291	c.210C>A	c.(208-210)ggC>ggA	p.G70G	SYNJ2BP_ENST00000554216.1_5'UTR|SYNJ2BP-COX16_ENST00000555276.1_RNA	NM_018373.2	NP_060843.2			synaptojanin 2 binding protein											central_nervous_system(1)|kidney(2)|large_intestine(1)|upper_aerodigestive_tract(1)	5				all cancers(60;0.00367)|BRCA - Breast invasive adenocarcinoma(234;0.00716)|OV - Ovarian serous cystadenocarcinoma(108;0.0377)		TTAGGTCTTGGCCATTTACCT	0.413													34	66					7.11191e-15	9.0478e-15	1	1	0	T	70842480	G	T	70842480	2	4	81	1	0	0	0	0	0	0	0	1	15511	1190	42	5		5	SYNJ2BP	14	70842480	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	933551	70842480	36507060	10610	14226											
MAP3K9	4293	broad.mit.edu	37	14	71199843	71199843	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:71199843C>T	ENST00000554752.2	-	11	2242	c.2243G>A	c.(2242-2244)cGc>cAc	p.R748H	MAP3K9_ENST00000381250.4_Missense_Mutation_p.R725H|MAP3K9_ENST00000555993.2_Missense_Mutation_p.R762H|MAP3K9_ENST00000553414.1_Missense_Mutation_p.R481H|MAP3K9_ENST00000554146.1_Missense_Mutation_p.R476H	NM_001284230.1	NP_001271159.1	P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9	748					activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		CACCTCGCAGCGGCGGTGGTG	0.652													6	45					0	0	1	0	0	T	71199843	C	T	71199843	3	4	81	1	0	0	0	0	1	0	0	0	9307	768	27	1	1079	1	MAP3K9	14	71199843	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	357363	71199843	36149697	10611	14227											
MAP3K9	4293	broad.mit.edu	37	14	71206852	71206852	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:71206852A>T	ENST00000554752.2	-	7	1596	c.1597T>A	c.(1597-1599)Tcc>Acc	p.S533T	MAP3K9_ENST00000381250.4_Missense_Mutation_p.S533T|MAP3K9_ENST00000555993.2_Missense_Mutation_p.S533T|MAP3K9_ENST00000553414.1_Missense_Mutation_p.S227T|MAP3K9_ENST00000554146.1_Missense_Mutation_p.S270T	NM_001284230.1	NP_001271159.1	P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9	533				KLKDGNRISLPSDFQHKFTVQASPT -> AQPVLPFPHGHS RCPGGTGSSWGGQ (in Ref. 4).	activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		ATGGTAGGGGAGGCCTGCACC	0.468													6	54					0	0	1	0	0	T	71206852	A	T	71206852	3	4	81	1	0	0	0	0	1	0	0	0	9307	304	11	5	1787	5	MAP3K9	14	71206852	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	7009	71206852	36142688	10612	14228											
PCNX	22990	broad.mit.edu	37	14	71500206	71500206	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:71500206G>A	ENST00000304743.2	+	17	4065	c.3619G>A	c.(3619-3621)Gca>Aca	p.A1207T	PCNX_ENST00000238570.5_Missense_Mutation_p.A1207T|PCNX_ENST00000439984.3_Missense_Mutation_p.A1096T	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	1207						integral to membrane				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		TTTATTAGTGGCAGTGTCTTA	0.348													30	56					0	0	1	0	0	A	71500206	G	A	71500206	3	1	81	1	0	0	0	0	1	0	0	0	11638	1203	42	2	3685	2	PCNX	14	71500206	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	293354	71500206	35849334	10613	14229											
PCNX	22990	broad.mit.edu	37	14	71502806	71502806	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:71502806G>A	ENST00000304743.2	+	19	4245	c.3799G>A	c.(3799-3801)Gta>Ata	p.V1267I	PCNX_ENST00000238570.5_Missense_Mutation_p.V1267I|PCNX_ENST00000439984.3_Missense_Mutation_p.V1156I	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	1267						integral to membrane				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		GTCTGACCTGGTAGTATGCAT	0.323													36	79					0	0	1	0	0	A	71502806	G	A	71502806	3	1	81	1	0	0	0	0	1	0	0	0	11638	1261	44	2	3873	2	PCNX	14	71502806	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2600	71502806	35846734	10614	14230	71	2									
PCNX	22990	broad.mit.edu	37	14	71502809	71502809	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:71502809G>T	ENST00000304743.2	+	19	4248	c.3802G>T	c.(3802-3804)Gta>Tta	p.V1268L	PCNX_ENST00000238570.5_Missense_Mutation_p.V1268L|PCNX_ENST00000439984.3_Missense_Mutation_p.V1157L	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	1268						integral to membrane				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		TGACCTGGTAGTATGCATTGT	0.313													37	81					1.62957e-23	2.14779e-23	1	1	0	T	71502809	G	T	71502809	3	4	81	1	0	0	0	0	1	0	0	0	11638	1029	36	4	3876	4	PCNX	14	71502809	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	3	71502809	35846731	10615	14231	71	2									
PCNX	22990	broad.mit.edu	37	14	71524435	71524435	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:71524435T>C	ENST00000304743.2	+	26	5292	c.4846T>C	c.(4846-4848)Ttc>Ctc	p.F1616L	PCNX_ENST00000238570.5_Intron|PCNX_ENST00000439984.3_Missense_Mutation_p.F1505L	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	1616						integral to membrane				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		GGGACTTGAATTCAGAGGTAA	0.408													87	151					0	0	1	0	0	C	71524435	T	C	71524435	3	2	81	1	0	0	0	0	1	0	0	0	11638	1493	52	3	4948	3	PCNX	14	71524435	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	21626	71524435	35825105	10616	14232											
SIPA1L1	26037	broad.mit.edu	37	14	72128039	72128039	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:72128039C>T	ENST00000555818.1	+	7	2458	c.2110C>T	c.(2110-2112)Cgg>Tgg	p.R704W	SIPA1L1_ENST00000358550.2_Missense_Mutation_p.R704W|SIPA1L1_ENST00000381232.3_Missense_Mutation_p.R704W|SIPA1L1_ENST00000537413.1_Missense_Mutation_p.R179W	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	704	Rap-GAP.				actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		CCTGAGGAAGCGGCACATTGG	0.423													14	29					0	0	1	0	0	T	72128039	C	T	72128039	3	4	81	1	0	0	0	0	1	0	0	0	14384	759	27	1	2132	1	SIPA1L1	14	72128039	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	603604	72128039	35221501	10617	14233											
SIPA1L1	26037	broad.mit.edu	37	14	72139292	72139292	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:72139292G>A	ENST00000555818.1	+	9	3405	c.3057G>A	c.(3055-3057)acG>acA	p.T1019T	SIPA1L1_ENST00000358550.2_Silent_p.T1019T|SIPA1L1_ENST00000381232.3_Silent_p.T1019T|SIPA1L1_ENST00000537413.1_Silent_p.T494T	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	1019	PDZ.				actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		CATCTGTCACGGTGAAGGTTG	0.592													15	24					0	0	1	0	0	A	72139292	G	A	72139292	2	1	81	1	0	0	0	0	0	0	0	1	14384	1103	39	1		1	SIPA1L1	14	72139292	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	11253	72139292	35210248	10618	14234											
SIPA1L1	26037	broad.mit.edu	37	14	72165699	72165699	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:72165699C>T	ENST00000555818.1	+	11	3724	c.3376C>T	c.(3376-3378)Ctg>Ttg	p.L1126L	SIPA1L1_ENST00000358550.2_Splice_Site_p.L1126L|SIPA1L1_ENST00000381232.3_Splice_Site_p.L1126L|SIPA1L1_ENST00000537413.1_Splice_Site_p.L601L	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	1126					actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		CACATGCAGGCTGTCTCCTGG	0.428													5	71					0	0	1	0	0	T	72165699	C	T	72165699	5	4	81	1	0	0	0	0	0	0	1	0	14384	811	28	2	3414	2	SIPA1L1	14	72165699	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	26407	72165699	35183841	10619	14235											
SIPA1L1	26037	broad.mit.edu	37	14	72196994	72196994	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:72196994A>G	ENST00000555818.1	+	18	5248	c.4900A>G	c.(4900-4902)Acc>Gcc	p.T1634A	SIPA1L1_ENST00000358550.2_Missense_Mutation_p.T1613A|SIPA1L1_ENST00000381232.3_Missense_Mutation_p.T1613A|SIPA1L1_ENST00000554874.1_3'UTR|SIPA1L1_ENST00000537413.1_Missense_Mutation_p.T1088A	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	1634					actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		GCCTTCTTACACCTTAGGAAT	0.567													21	51					0	0	1	0	0	G	72196994	A	G	72196994	3	3	81	1	0	0	0	0	1	0	0	0	14384	159	6	3	4966	3	SIPA1L1	14	72196994	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	31295	72196994	35152546	10620	14236											
DPF3	8110	broad.mit.edu	37	14	73159848	73159848	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:73159848C>A	ENST00000541685.1	-	7	690	c.678G>T	c.(676-678)gaG>gaT	p.E226D	DPF3_ENST00000556509.1_Missense_Mutation_p.E226D|DPF3_ENST00000557704.1_5'UTR|DPF3_ENST00000546183.1_Missense_Mutation_p.E236D	NM_012074.3	NP_036206.3	Q92784	DPF3_HUMAN	D4, zinc and double PHD fingers, family 3	226					chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nBAF complex	nucleic acid binding|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)	22				BRCA - Breast invasive adenocarcinoma(234;0.00649)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		CTTCATCCCCCTCCTCGCTGG	0.552													6	97					8.12818e-05	8.94031e-05	1	1	0	A	73159848	C	A	73159848	3	1	81	1	0	0	0	0	1	0	0	0	4745	680	24	4	407	4	DPF3	14	73159848	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	962854	73159848	34189692	10621	14237											
ZFYVE1	53349	broad.mit.edu	37	14	73441590	73441590	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:73441590A>G	ENST00000556143.1	-	10	2604	c.1884T>C	c.(1882-1884)tgT>tgC	p.C628C	ZFYVE1_ENST00000553891.1_Silent_p.C628C|ZFYVE1_ENST00000555072.1_Silent_p.C213C|ZFYVE1_ENST00000318876.5_Silent_p.C614C|ZFYVE1_ENST00000554145.1_5'UTR|ZFYVE1_ENST00000394207.2_Silent_p.C213C	NM_001281735.1|NM_021260.2	NP_001268664.1|NP_067083.1	Q9HBF4	ZFYV1_HUMAN	zinc finger, FYVE domain containing 1	628						endoplasmic reticulum|Golgi stack|perinuclear region of cytoplasm	1-phosphatidylinositol binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(17)|ovary(1)|prostate(2)|skin(1)	35		all_lung(585;1.33e-09)		OV - Ovarian serous cystadenocarcinoma(108;1.6e-46)|BRCA - Breast invasive adenocarcinoma(234;0.00349)		AACAGCTGTCACAGAAGCCCT	0.567													17	35					0	0	1	0	0	G	73441590	A	G	73441590	2	3	81	1	0	0	0	0	0	0	0	1	17721	157	6	3		3	ZFYVE1	14	73441590	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	281742	73441590	33907950	10622	14238											
ZFYVE1	53349	broad.mit.edu	37	14	73442413	73442413	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:73442413T>G	ENST00000556143.1	-	9	2372	c.1652A>C	c.(1651-1653)aAg>aCg	p.K551T	ZFYVE1_ENST00000553891.1_Missense_Mutation_p.K551T|ZFYVE1_ENST00000555072.1_Missense_Mutation_p.K136T|ZFYVE1_ENST00000318876.5_Missense_Mutation_p.K537T|ZFYVE1_ENST00000554145.1_5'UTR|ZFYVE1_ENST00000394207.2_Missense_Mutation_p.K136T	NM_001281735.1|NM_021260.2	NP_001268664.1|NP_067083.1	Q9HBF4	ZFYV1_HUMAN	zinc finger, FYVE domain containing 1	551						endoplasmic reticulum|Golgi stack|perinuclear region of cytoplasm	1-phosphatidylinositol binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(17)|ovary(1)|prostate(2)|skin(1)	35		all_lung(585;1.33e-09)		OV - Ovarian serous cystadenocarcinoma(108;1.6e-46)|BRCA - Breast invasive adenocarcinoma(234;0.00349)		GTTGTTGTCCTTCAGAAACCC	0.527													7	37					0	0	1	0	0	G	73442413	T	G	73442413	3	3	81	1	0	0	0	0	1	0	0	0	17721	1609	56	5	697	5	ZFYVE1	14	73442413	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	823	73442413	33907127	10623	14239											
RBM25	58517	broad.mit.edu	37	14	73577639	73577639	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:73577639A>G	ENST00000261973.7	+	15	2078	c.1793A>G	c.(1792-1794)gAa>gGa	p.E598G	RBM25_ENST00000527432.1_Missense_Mutation_p.E598G|RBM25_ENST00000532483.1_3'UTR	NM_021239.2	NP_067062.1	P49756	RBM25_HUMAN	RNA binding motif protein 25	598	Glu-rich.|Necessary for nuclear speckle localization.				apoptosis|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|RNA splicing	cytoplasm|nuclear speck	mRNA binding|nucleotide binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(6)|ovary(2)|pancreas(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688)		gaaaaacgagaagaaCCCATG	0.493													13	6					0	0	1	0	0	G	73577639	A	G	73577639	3	3	81	1	0	0	0	0	1	0	0	0	13177	246	9	3	1847	3	RBM25	14	73577639	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	135226	73577639	33771901	10624	14240											
RBM25	58517	broad.mit.edu	37	14	73578420	73578420	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:73578420G>A	ENST00000261973.7	+	16	2487	c.2202G>A	c.(2200-2202)aaG>aaA	p.K734K	RBM25_ENST00000527432.1_Silent_p.K734K|RBM25_ENST00000532483.1_3'UTR	NM_021239.2	NP_067062.1	P49756	RBM25_HUMAN	RNA binding motif protein 25	734					apoptosis|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|RNA splicing	cytoplasm|nuclear speck	mRNA binding|nucleotide binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(6)|ovary(2)|pancreas(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688)		CTGAAGAAAAGCGTAAACACA	0.423													43	71					0	0	1	0	0	A	73578420	G	A	73578420	2	1	81	1	0	0	0	0	0	0	0	1	13177	962	34	2		2	RBM25	14	73578420	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	781	73578420	33771120	10625	14241											
PAPLN	89932	broad.mit.edu	37	14	73718426	73718426	+	Missense_Mutation	SNP	C	C	T	rs150353286		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:73718426C>T	ENST00000427855.1	+	9	827	c.725C>T	c.(724-726)gCg>gTg	p.A242V	PAPLN_ENST00000554301.1_Missense_Mutation_p.A242V|PAPLN_ENST00000340738.5_Missense_Mutation_p.A215V|PAPLN_ENST00000381166.3_Missense_Mutation_p.A242V|PAPLN_ENST00000555445.1_Missense_Mutation_p.A242V			O95428	PPN_HUMAN	papilin, proteoglycan-like sulfated glycoprotein	242						proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3)	42				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)		ACCATCGAGGCGGCCCGGGCC	0.672													30	42					0	0	1	0	0	T	73718426	C	T	73718426	3	4	81	1	0	0	0	0	1	0	0	0	11475	768	27	1	670	1	PAPLN	14	73718426	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	140006	73718426	33631114	10626	14242											
PAPLN	89932	broad.mit.edu	37	14	73721704	73721704	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:73721704G>A	ENST00000427855.1	+	14	1707	c.1605G>A	c.(1603-1605)acG>acA	p.T535T	PAPLN_ENST00000554301.1_Silent_p.T535T|PAPLN_ENST00000340738.5_Silent_p.T508T|PAPLN_ENST00000381166.3_Silent_p.T535T|PAPLN_ENST00000555445.1_Silent_p.T535T			O95428	PPN_HUMAN	papilin, proteoglycan-like sulfated glycoprotein	535	TSP type-1 5.					proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3)	42				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)		CTTGTAACACGCAGCCCTGTC	0.642													7	12					0	0	1	0	0	A	73721704	G	A	73721704	2	1	81	1	0	0	0	0	0	0	0	1	11475	1074	38	1		1	PAPLN	14	73721704	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	3278	73721704	33627836	10627	14243											
NUMB	8650	broad.mit.edu	37	14	73750787	73750787	+	Splice_Site	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:73750787A>G	ENST00000556772.1	-	4	2805		c.e4+1		NUMB_ENST00000356296.4_Splice_Site|NUMB_ENST00000557597.1_Splice_Site|NUMB_ENST00000355058.3_Splice_Site|NUMB_ENST00000454166.4_Intron|NUMB_ENST00000555238.1_Splice_Site|NUMB_ENST00000554521.2_Intron|NUMB_ENST00000544991.3_Intron|NUMB_ENST00000555738.2_Intron|NUMB_ENST00000555394.1_Splice_Site|NUMB_ENST00000559312.1_Intron|NUMB_ENST00000554546.1_Splice_Site|NUMB_ENST00000560335.1_Intron|NUMB_ENST00000359560.3_Splice_Site|NUMB_ENST00000535282.1_Splice_Site			P49757	NUMB_HUMAN	numb homolog (Drosophila)						axon guidance|lateral ventricle development|neuroblast division in subventricular zone|positive regulation of neurogenesis	integral to plasma membrane				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	28				BRCA - Breast invasive adenocarcinoma(234;0.00471)|OV - Ovarian serous cystadenocarcinoma(108;0.161)		ATGCTACATTACCTGCATTTT	0.448													3	54					0	0	1	0	0	G	73750787	A	G	73750787	5	3	81	1	0	0	0	0	0	0	1	0	10799	405	14	3	1020	3	NUMB	14	73750787	Splice_Site	SNP	A	TCGA-DU-6392-01A-11D-1705-08	29083	73750787	33598753	10628	14244											
HEATR4	399671	broad.mit.edu	37	14	73945427	73945427	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:73945427C>T	ENST00000553558.1	-	18	3286	c.2965G>A	c.(2965-2967)Gct>Act	p.A989T	HEATR4_ENST00000560393.1_Missense_Mutation_p.A942T|HEATR4_ENST00000334988.2_Missense_Mutation_p.A989T|HEATR4_ENST00000566478.1_5'UTR	NM_001220484.1	NP_001207413.1			HEAT repeat containing 4											breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28				BRCA - Breast invasive adenocarcinoma(234;0.00386)|OV - Ovarian serous cystadenocarcinoma(108;0.0719)		GGTCCCACAGCAATCCTTTTC	0.453													42	56					0	0	1	0	0	T	73945427	C	T	73945427	3	4	81	1	0	0	0	0	1	0	0	0	7071	710	25	2	119	2	HEATR4	14	73945427	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	194640	73945427	33404113	10629	14245											
DNAL1	83544	broad.mit.edu	37	14	74125656	74125656	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:74125656G>A	ENST00000553645.2	+	3	190	c.149G>A	c.(148-150)tGc>tAc	p.C50Y	DNAL1_ENST00000554339.1_Intron|DNAL1_ENST00000311089.3_Intron|DNAL1_ENST00000554871.1_Missense_Mutation_p.C11Y|DNAL1_ENST00000540526.1_Missense_Mutation_p.C11Y	NM_031427.3	NP_113615.2	Q4LDG9	DNAL1_HUMAN	dynein, axonemal, light chain 1											kidney(1)|lung(2)	3				BRCA - Breast invasive adenocarcinoma(234;0.00384)|KIRC - Kidney renal clear cell carcinoma(182;0.095)		CTTGCTAATTGCGAGTAAGTT	0.398													92	183					0	0	1	0	0	A	74125656	G	A	74125656	3	1	81	1	0	0	0	0	1	0	0	0	4684	1319	46	2	159	2	DNAL1	14	74125656	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	180229	74125656	33223884	10630	14246											
DNAL1	83544	broad.mit.edu	37	14	74153965	74153965	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:74153965G>A	ENST00000553645.2	+	6	309	c.268G>A	c.(268-270)Gca>Aca	p.A90T	DNAL1_ENST00000554339.1_Missense_Mutation_p.A3T|DNAL1_ENST00000311089.3_5'UTR|DNAL1_ENST00000554871.1_Missense_Mutation_p.A51T|DNAL1_ENST00000540526.1_Missense_Mutation_p.A51T	NM_031427.3	NP_113615.2	Q4LDG9	DNAL1_HUMAN	dynein, axonemal, light chain 1											kidney(1)|lung(2)	3				BRCA - Breast invasive adenocarcinoma(234;0.00384)|KIRC - Kidney renal clear cell carcinoma(182;0.095)		TTTTCAGGAGGCAGTAGGGGA	0.323													20	37					0	0	1	0	0	A	74153965	G	A	74153965	3	1	81	1	0	0	0	0	1	0	0	0	4684	1203	42	2	290	2	DNAL1	14	74153965	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	28309	74153965	33195575	10631	14247											
FAM161B	145483	broad.mit.edu	37	14	74413270	74413270	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:74413270T>C	ENST00000286544.3	-	2	480	c.282A>G	c.(280-282)ggA>ggG	p.G94G	FAM161B_ENST00000534936.1_Silent_p.G31G	NM_152445.2	NP_689658.2			family with sequence similarity 161, member B											breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)	21						ACAGCTCCTCTCCTGCCTCTG	0.473													22	106					0	0	1	0	0	C	74413270	T	C	74413270	2	2	81	1	0	0	0	0	0	0	0	1	5503	1538	54	3		3	FAM161B	14	74413270	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	259305	74413270	32936270	10632	14248											
COQ6	51004	broad.mit.edu	37	14	74428545	74428545	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:74428545C>T	ENST00000334571.2	+	11	1356	c.1316C>T	c.(1315-1317)tCc>tTc	p.S439F	ENTPD5_ENST00000557325.1_Intron|COQ6_ENST00000554920.1_Intron|COQ6_ENST00000238709.4_Missense_Mutation_p.S364F|COQ6_ENST00000394026.4_Missense_Mutation_p.S414F	NM_182476.2	NP_872282.1	Q9Y2Z9	COQ6_HUMAN	coenzyme Q6 monooxygenase	439					ubiquinone biosynthetic process	mitochondrion	flavin adenine dinucleotide binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen			breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	16				BRCA - Breast invasive adenocarcinoma(234;0.00337)		ACCAGTGCCTCCCCGCTTGTG	0.502													12	177					0	0	1	0	0	T	74428545	C	T	74428545	3	4	81	1	0	0	0	0	1	0	0	0	3772	855	30	2	1358	2	COQ6	14	74428545	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	15275	74428545	32920995	10633	14249											
ALDH6A1	4329	broad.mit.edu	37	14	74531942	74531942	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:74531942A>C	ENST00000553458.1	-	10	1444	c.1346T>G	c.(1345-1347)aTc>aGc	p.I449S	ALDH6A1_ENST00000350259.4_Missense_Mutation_p.I436S|AC005484.5_ENST00000492026.1_RNA|ALDH6A1_ENST00000555126.1_Missense_Mutation_p.I166S|CCDC176_ENST00000553773.1_Intron|CCDC176_ENST00000394009.3_3'UTR	NM_001278593.1|NM_005589.2	NP_001265522.1|NP_005580.1	Q02252	MMSA_HUMAN	aldehyde dehydrogenase 6 family, member A1	449						mitochondrial matrix|nucleus	fatty-acyl-CoA binding|malonate-semialdehyde dehydrogenase (acetylating) activity|methylmalonate-semialdehyde dehydrogenase (acylating) activity			NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(3)|skin(3)	21				BRCA - Breast invasive adenocarcinoma(234;0.00354)	NADH(DB00157)	GGTGGTGAAGATGGCAGTTCC	0.423													4	73					0	0	1	0	0	C	74531942	A	C	74531942	3	2	81	1	0	0	0	0	1	0	0	0	500	333	12	4	273	4	ALDH6A1	14	74531942	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	103397	74531942	32817598	10634	14250											
ALDH6A1	4329	broad.mit.edu	37	14	74537970	74537970	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:74537970G>A	ENST00000553458.1	-	6	756	c.658C>T	c.(658-660)Ctt>Ttt	p.L220F	ALDH6A1_ENST00000350259.4_Missense_Mutation_p.L207F|AC005484.5_ENST00000492026.1_RNA|CCDC176_ENST00000553773.1_Intron	NM_001278593.1|NM_005589.2	NP_001265522.1|NP_005580.1	Q02252	MMSA_HUMAN	aldehyde dehydrogenase 6 family, member A1	220						mitochondrial matrix|nucleus	fatty-acyl-CoA binding|malonate-semialdehyde dehydrogenase (acetylating) activity|methylmalonate-semialdehyde dehydrogenase (acylating) activity			NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(3)|skin(3)	21				BRCA - Breast invasive adenocarcinoma(234;0.00354)	NADH(DB00157)	TTAGCAAGAAGCATAGTTGCT	0.473													6	52					0	0	1	0	0	A	74537970	G	A	74537970	3	1	81	1	0	0	0	0	1	0	0	0	500	971	34	2	977	2	ALDH6A1	14	74537970	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	6028	74537970	32811570	10635	14251											
ALDH6A1	4329	broad.mit.edu	37	14	74538062	74538062	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:74538062G>A	ENST00000553458.1	-	6	664	c.566C>T	c.(565-567)gCc>gTc	p.A189V	ALDH6A1_ENST00000350259.4_Missense_Mutation_p.A176V|AC005484.5_ENST00000492026.1_RNA|CCDC176_ENST00000553773.1_Intron	NM_001278593.1|NM_005589.2	NP_001265522.1|NP_005580.1	Q02252	MMSA_HUMAN	aldehyde dehydrogenase 6 family, member A1	189						mitochondrial matrix|nucleus	fatty-acyl-CoA binding|malonate-semialdehyde dehydrogenase (acetylating) activity|methylmalonate-semialdehyde dehydrogenase (acylating) activity			NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(3)|skin(3)	21				BRCA - Breast invasive adenocarcinoma(234;0.00354)	NADH(DB00157)	GGGGATCATGGCAGGAAAATT	0.498													20	28					0	0	1	0	0	A	74538062	G	A	74538062	3	1	81	1	0	0	0	0	1	0	0	0	500	1203	42	2	1069	2	ALDH6A1	14	74538062	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	92	74538062	32811478	10636	14252											
LTBP2	4053	broad.mit.edu	37	14	75078499	75078499	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:75078499G>A	ENST00000261978.4	-	1	535	c.149C>T	c.(148-150)gCg>gTg	p.A50V	LTBP2_ENST00000556690.1_Missense_Mutation_p.A50V|LTBP2_ENST00000557425.1_Intron	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	50					protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		CAGTCGATTCGCGTCTCCACC	0.692													4	8					0	0	1	0	0	A	75078499	G	A	75078499	3	1	81	1	0	0	0	0	1	0	0	0	9119	1087	38	1	5460	1	LTBP2	14	75078499	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	540437	75078499	32271041	10637	14253											
YLPM1	56252	broad.mit.edu	37	14	75248346	75248346	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:75248346C>T	ENST00000325680.7	+	4	1724	c.1600C>T	c.(1600-1602)Ccc>Tcc	p.P534S	YLPM1_ENST00000552421.1_Missense_Mutation_p.P534S|YLPM1_ENST00000238571.3_Intron	NM_019589.2	NP_062535.2	P49750	YLPM1_HUMAN	YLP motif containing 1	341					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck				breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		ACCTACAATGCCCCCTCCAGT	0.532													51	73					0	0	1	0	0	T	75248346	C	T	75248346	3	4	81	1	0	0	0	0	1	0	0	0	17546	739	26	2	1614	2	YLPM1	14	75248346	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	169847	75248346	32101194	10638	14254											
YLPM1	56252	broad.mit.edu	37	14	75265633	75265633	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:75265633T>C	ENST00000325680.7	+	5	3757	c.3633T>C	c.(3631-3633)gcT>gcC	p.A1211A	YLPM1_ENST00000552421.1_Intron|YLPM1_ENST00000238571.3_Silent_p.A1016A	NM_019589.2	NP_062535.2	P49750	YLPM1_HUMAN	YLP motif containing 1	1016					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck				breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		GTAGAAATGCTCCAATGGAAC	0.448													3	23					0	0	1	0	0	C	75265633	T	C	75265633	2	2	81	1	0	0	0	0	0	0	0	1	17546	1538	54	3		3	YLPM1	14	75265633	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	17287	75265633	32083907	10639	14255											
PROX2	283571	broad.mit.edu	37	14	75329592	75329592	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:75329592T>C	ENST00000556489.2	-	1	945	c.946A>G	c.(946-948)Atc>Gtc	p.I316V	PROX2_ENST00000556084.2_Intron|PROX2_ENST00000445876.1_Missense_Mutation_p.I316V	NM_001243007.1	NP_001229936.1	Q3B8N5	PROX2_HUMAN	prospero homeobox 2	316					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			kidney(1)|large_intestine(2)|lung(3)	6			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00652)		CTTGGAGGGATAGGGTACCTA	0.527													4	92					0	0	1	0	0	C	75329592	T	C	75329592	3	2	81	1	0	0	0	0	1	0	0	0	12613	1406	49	3	848	3	PROX2	14	75329592	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	63959	75329592	32019948	10640	14256											
PROX2	283571	broad.mit.edu	37	14	75329615	75329615	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:75329615C>T	ENST00000556489.2	-	1	922	c.923G>A	c.(922-924)cGt>cAt	p.R308H	PROX2_ENST00000556084.2_Intron|PROX2_ENST00000445876.1_Missense_Mutation_p.R308H	NM_001243007.1	NP_001229936.1	Q3B8N5	PROX2_HUMAN	prospero homeobox 2	308					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			kidney(1)|large_intestine(2)|lung(3)	6			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00652)		AGAATCTAGACGCTTGGCCAG	0.552													43	58					0	0	1	0	0	T	75329615	C	T	75329615	3	4	81	1	0	0	0	0	1	0	0	0	12613	536	19	1	871	1	PROX2	14	75329615	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	23	75329615	32019925	10641	14257											
PROX2	283571	broad.mit.edu	37	14	75330051	75330051	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:75330051G>A	ENST00000556084.2	-	1	486	c.487C>T	c.(487-489)Cca>Tca	p.P163S	PROX2_ENST00000445876.1_Missense_Mutation_p.P163S|PROX2_ENST00000556489.2_Missense_Mutation_p.P163S	NM_001080408.2	NP_001073877.2	Q3B8N5	PROX2_HUMAN	prospero homeobox 2	163					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			kidney(1)|large_intestine(2)|lung(3)	6			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00652)		CAGCCTCCTGGCCCCTGAGCT	0.602													16	16					0	0	1	0	0	A	75330051	G	A	75330051	3	1	81	1	0	0	0	0	1	0	0	0	12613	1203	42	2	1307	2	PROX2	14	75330051	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	436	75330051	32019489	10642	14258											
RPS6KL1	83694	broad.mit.edu	37	14	75376485	75376485	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:75376485C>T	ENST00000555647.1	-	8	1318	c.1031G>A	c.(1030-1032)gGg>gAg	p.G344E	RPS6KL1_ENST00000354625.2_Missense_Mutation_p.G313E|RPS6KL1_ENST00000358328.4_Missense_Mutation_p.G344E|RPS6KL1_ENST00000557413.1_Missense_Mutation_p.G344E			Q9Y6S9	RPKL1_HUMAN	ribosomal protein S6 kinase-like 1	344	Protein kinase.					ribosome	ATP binding|protein serine/threonine kinase activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17				BRCA - Breast invasive adenocarcinoma(234;0.00658)		CCAAGTGAGCCCCCGAGGGGG	0.692													5	12					0	0	1	0	0	T	75376485	C	T	75376485	3	4	81	1	0	0	0	0	1	0	0	0	13711	623	22	2	711	2	RPS6KL1	14	75376485	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	46434	75376485	31973055	10643	14259											
PGF	5228	broad.mit.edu	37	14	75416192	75416192	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:75416192G>A	ENST00000555567.1	-	3	724	c.183C>T	c.(181-183)gtC>gtT	p.V61V	PGF_ENST00000553716.1_Silent_p.V61V|PGF_ENST00000238607.6_Silent_p.V60V|PGF_ENST00000405431.2_Silent_p.V61V	NM_002632.5	NP_002623.2	P49763	PLGF_HUMAN	placental growth factor	61					angiogenesis|cell differentiation|cell-cell signaling|positive regulation of cell division|positive regulation of cell proliferation|vascular endothelial growth factor receptor signaling pathway	extracellular region|membrane	growth factor activity|heparin binding			kidney(1)|large_intestine(3)|lung(3)|ovary(1)	8				BRCA - Breast invasive adenocarcinoma(234;0.00668)		ACTCGGACACGACGTCCACCA	0.657													11	17					0	0	1	0	0	A	75416192	G	A	75416192	2	1	81	1	0	0	0	0	0	0	0	1	11836	1045	37	1		1	PGF	14	75416192	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	39707	75416192	31933348	10644	14260											
MLH3	27030	broad.mit.edu	37	14	75513291	75513291	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:75513291C>A	ENST00000355774.2	-	2	3283	c.3068G>T	c.(3067-3069)aGt>aTt	p.S1023I	MLH3_ENST00000556740.1_Missense_Mutation_p.S1023I|MLH3_ENST00000556257.1_Missense_Mutation_p.S1023I|MLH3_ENST00000380968.2_5'UTR|MLH3_ENST00000544985.1_Missense_Mutation_p.S18I|MLH3_ENST00000238662.7_Missense_Mutation_p.S1023I|MLH3_ENST00000555671.1_5'UTR	NM_001040108.1	NP_001035197.1	Q9UHC1	MLH3_HUMAN	mutL homolog 3	1023					mismatch repair|reciprocal meiotic recombination	chiasma|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|mismatched DNA binding|protein binding|satellite DNA binding			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	44				BRCA - Breast invasive adenocarcinoma(234;0.00688)		AGATTCCTCACTCTGAAAACA	0.443								Mismatch excision repair (MMR)					10	135					3.07112e-06	3.5041e-06	1	1	0	A	75513291	C	A	75513291	3	1	81	1	0	0	0	0	1	0	0	0	9666	565	20	4	1341	4	MLH3	14	75513291	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	97099	75513291	31836249	10645	14261											
MLH3	27030	broad.mit.edu	37	14	75514329	75514329	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:75514329G>A	ENST00000355774.2	-	2	2245	c.2030C>T	c.(2029-2031)aCg>aTg	p.T677M	MLH3_ENST00000556740.1_Missense_Mutation_p.T677M|MLH3_ENST00000556257.1_Missense_Mutation_p.T677M|MLH3_ENST00000380968.2_De_novo_Start_InFrame|MLH3_ENST00000238662.7_Missense_Mutation_p.T677M	NM_001040108.1	NP_001035197.1	Q9UHC1	MLH3_HUMAN	mutL homolog 3	677					mismatch repair|reciprocal meiotic recombination	chiasma|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|mismatched DNA binding|protein binding|satellite DNA binding			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	44				BRCA - Breast invasive adenocarcinoma(234;0.00688)		ACTTATATTCGTTCTGCAATT	0.343								Mismatch excision repair (MMR)					38	52					0	0	1	0	0	A	75514329	G	A	75514329	3	1	81	1	0	0	0	0	1	0	0	0	9666	1145	40	1	2379	1	MLH3	14	75514329	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1038	75514329	31835211	10646	14262											
TMED10	10972	broad.mit.edu	37	14	75643203	75643203	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:75643203C>A	ENST00000303575.4	-	1	131	c.80G>T	c.(79-81)aGa>aTa	p.R27I		NM_006827.5	NP_006818.3	P49755	TMEDA_HUMAN	transmembrane emp24-like trafficking protein 10 (yeast)	27					protein transport|regulated secretory pathway|vesicle targeting, to, from or within Golgi	cis-Golgi network|ER-Golgi intermediate compartment|Golgi membrane|integral to membrane|melanosome|microsome|zymogen granule membrane	protein binding			endometrium(1)|large_intestine(5)|lung(3)	9				BRCA - Breast invasive adenocarcinoma(234;0.0126)		AAGGACCAATCTGGGGCCGAG	0.582													8	78					0.0581538	0.0592525	1	1	0	A	75643203	C	A	75643203	3	1	81	1	0	0	0	0	1	0	0	0	16063	913	32	4	599	4	TMED10	14	75643203	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	128874	75643203	31706337	10647	14263											
BATF	10538	broad.mit.edu	37	14	75991505	75991505	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:75991505A>G	ENST00000286639.6	+	2	400	c.142A>G	c.(142-144)Aca>Gca	p.T48A	BATF_ENST00000555795.1_3'UTR|BATF_ENST00000555504.1_Missense_Mutation_p.T48A	NM_006399.3	NP_006390.1	Q16520	BATF_HUMAN	basic leucine zipper transcription factor, ATF-like	48						nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|ovary(1)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(234;0.028)		ACAGAGGCAGACACAGAAGGC	0.547													7	15					0	0	1	0	0	G	75991505	A	G	75991505	3	3	81	1	0	0	0	0	1	0	0	0	1323	275	10	3	148	3	BATF	14	75991505	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	348302	75991505	31358035	10648	14264											
FLVCR2	55640	broad.mit.edu	37	14	76090972	76090972	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:76090972delA	ENST00000238667.4	+	3	1185	c.829delA	c.(829-831)aaafs	p.K277fs	FLVCR2_ENST00000553587.1_Frame_Shift_Del_p.K25fs|FLVCR2_ENST00000556856.1_Frame_Shift_Del_p.K25fs|FLVCR2_ENST00000556241.1_3'UTR|FLVCR2_ENST00000539311.1_Frame_Shift_Del_p.K72fs	NM_017791.2	NP_060261.2	Q9UPI3	FLVC2_HUMAN	feline leukemia virus subgroup C cellular receptor family, member 2	277					transmembrane transport	integral to membrane|plasma membrane	heme binding|heme transporter activity			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	15				BRCA - Breast invasive adenocarcinoma(234;0.029)		GGAGAAACCTAAATATCCCCC	0.488													9	82	---	---	---	---						-	76090972	A	-	76090972	7	5	81	1	0	1	0	1	0	0	0	0	5979	363	13	0	839	0	FLVCR2	14	76090972	Frame_Shift_Del	DEL	A	TCGA-DU-6392-01A-11D-1705-08	99467	76090972	31258568	10649	14265											
TTLL5	23093	broad.mit.edu	37	14	76147930	76147930	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:76147930G>A	ENST00000298832.9	+	4	429	c.224G>A	c.(223-225)cGc>cAc	p.R75H	TTLL5_ENST00000557636.1_Missense_Mutation_p.R75H|TTLL5_ENST00000556977.1_Missense_Mutation_p.R75H|TTLL5_ENST00000286650.5_Missense_Mutation_p.R75H	NM_015072.4	NP_055887.3	Q6EMB2	TTLL5_HUMAN	tubulin tyrosine ligase-like family, member 5	75	TTL.				protein modification process|transcription, DNA-dependent	centrosome|cilium|microtubule basal body|nucleus	tubulin-tyrosine ligase activity			NS(2)|breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(3)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	50				BRCA - Breast invasive adenocarcinoma(234;0.029)		ACGGACAGTCGCCTAGTACGC	0.358													41	68					0	0	1	0	0	A	76147930	G	A	76147930	3	1	81	1	0	0	0	0	1	0	0	0	16792	1087	38	1	234	1	TTLL5	14	76147930	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	56958	76147930	31201610	10650	14266											
TTLL5	23093	broad.mit.edu	37	14	76330205	76330205	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:76330205G>T	ENST00000298832.9	+	29	3727	c.3522G>T	c.(3520-3522)caG>caT	p.Q1174H	TTLL5_ENST00000557636.1_Splice_Site_p.Q1189H|TTLL5_ENST00000556893.1_Splice_Site_p.Q725H|TTLL5_ENST00000554510.1_Splice_Site_p.Q683H	NM_015072.4	NP_055887.3	Q6EMB2	TTLL5_HUMAN	tubulin tyrosine ligase-like family, member 5	1174					protein modification process|transcription, DNA-dependent	centrosome|cilium|microtubule basal body|nucleus	tubulin-tyrosine ligase activity			NS(2)|breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(3)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	50				BRCA - Breast invasive adenocarcinoma(234;0.029)		CCCGGCACCAGGTAATTCAAG	0.423													6	63					2.0095e-06	2.30238e-06	1	1	0	T	76330205	G	T	76330205	5	4	81	1	0	0	0	0	0	0	1	0	16792	1014	35	4	3632	4	TTLL5	14	76330205	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	182275	76330205	31019335	10651	14267											
TGFB3	7043	broad.mit.edu	37	14	76437556	76437556	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:76437556C>T	ENST00000238682.3	-	3	856	c.559G>A	c.(559-561)Ggt>Agt	p.G187S	RP11-270M14.5_ENST00000553732.1_lincRNA|TGFB3_ENST00000556285.1_Missense_Mutation_p.G187S	NM_003239.2	NP_003230.1	P10600	TGFB3_HUMAN	transforming growth factor, beta 3	187					cell growth|cell-cell junction organization|detection of hypoxia|face morphogenesis|in utero embryonic development|induction of apoptosis|lung alveolus development|mammary gland development|menstrual cycle phase|negative regulation of cell proliferation|negative regulation of DNA replication|negative regulation of macrophage cytokine production|negative regulation of neuron apoptosis|odontogenesis|ossification involved in bone remodeling|palate development|platelet activation|platelet degranulation|positive regulation of bone mineralization|positive regulation of cell division|positive regulation of collagen biosynthetic process|positive regulation of DNA replication|positive regulation of epithelial to mesenchymal transition|positive regulation of filopodium assembly|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of protein secretion|positive regulation of SMAD protein import into nucleus|positive regulation of transcription from RNA polymerase II promoter|response to progesterone stimulus|salivary gland morphogenesis|transforming growth factor beta receptor signaling pathway	extracellular matrix|platelet alpha granule lumen	growth factor activity|identical protein binding|transforming growth factor beta binding|type I transforming growth factor beta receptor binding|type II transforming growth factor beta receptor binding			NS(1)|breast(1)|endometrium(4)|kidney(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	11				BRCA - Breast invasive adenocarcinoma(234;0.0169)		TTCTTGCCACCGATATAGCGC	0.562													21	33					0	0	1	0	0	T	76437556	C	T	76437556	3	4	81	1	0	0	0	0	1	0	0	0	15879	652	23	1	699	1	TGFB3	14	76437556	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	107351	76437556	30911984	10652	14268											
VASH1	22846	broad.mit.edu	37	14	77236357	77236357	+	Missense_Mutation	SNP	C	C	T	rs145801473		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:77236357C>T	ENST00000167106.4	+	2	994	c.361C>T	c.(361-363)Cgc>Tgc	p.R121C	VASH1_ENST00000554237.1_Missense_Mutation_p.R121C|VASH1_ENST00000556038.1_3'UTR	NM_014909.4	NP_055724.1	Q7L8A9	VASH1_HUMAN	vasohibin 1	121					cell cycle arrest|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of endothelial cell proliferation	endoplasmic reticulum|extracellular space				breast(2)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)|urinary_tract(3)	10			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0283)		TGTCCCTGAGCGCCTGGAAGC	0.592													42	46					0	0	1	0	0	T	77236357	C	T	77236357	3	4	81	1	0	0	0	0	1	0	0	0	17185	768	27	1	367	1	VASH1	14	77236357	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	798801	77236357	30113183	10653	14269											
ANGEL1	23357	broad.mit.edu	37	14	77272762	77272762	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:77272762C>T	ENST00000251089.2	-	5	1489	c.1377G>A	c.(1375-1377)tgG>tgA	p.W459*		NM_015305.3	NP_056120.2	Q9UNK9	ANGE1_HUMAN	angel homolog 1 (Drosophila)	459										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	22			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0285)		ATTTCACCTTCCAGGCTGGCA	0.537													8	26					0	0	1	0	0	T	77272762	C	T	77272762	4	4	81	1	0	0	0	0	0	1	0	0	604	856	30	2	659	2	ANGEL1	14	77272762	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	36405	77272762	30076778	10654	14270											
C14orf166B	145497	broad.mit.edu	37	14	77318754	77318754	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:77318754C>T	ENST00000393774.3	+	8	898	c.774C>T	c.(772-774)ttC>ttT	p.F258F	C14orf166B_ENST00000450042.2_3'UTR	NM_194287.2	NP_919263.2	Q0VAA2	CN16B_HUMAN	chromosome 14 open reading frame 166B	258										breast(1)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(1)	18			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0306)		GGAATAACTTCCACACAAGGG	0.572													9	11					0	0	1	0	0	T	77318754	C	T	77318754	2	4	81	1	0	0	0	0	0	0	0	1	1763	854	30	2		2	C14orf166B	14	77318754	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	45992	77318754	30030786	10655	14271											
ZDHHC22	283576	broad.mit.edu	37	14	77605800	77605800	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:77605800G>A	ENST00000319374.4	-	2	484	c.282C>T	c.(280-282)acC>acT	p.T94T	RP11-463C8.4_ENST00000557752.1_Intron	NM_174976.2	NP_777636.2	Q8N966	ZDH22_HUMAN	zinc finger, DHHC-type containing 22	94						integral to membrane	acyltransferase activity|zinc ion binding			kidney(1)|lung(1)|urinary_tract(1)	3			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0277)		GGCAGAAGTGGGTGCTAGGTG	0.622													4	4					0	0	1	0	0	A	77605800	G	A	77605800	2	1	81	1	0	0	0	0	0	0	0	1	17671	1219	43	2		2	ZDHHC22	14	77605800	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	287046	77605800	29743740	10656	14272											
TMEM63C	57156	broad.mit.edu	37	14	77719720	77719720	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:77719720G>A	ENST00000298351.4	+	23	2364		c.e23+1			NM_020431.2	NP_065164.2	Q9P1W3	TM63C_HUMAN	transmembrane protein 63C							integral to membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(1)	23			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0342)		CACCTCCCTCGTGAGTCCTGA	0.612													4	11					0	0	1	0	0	A	77719720	G	A	77719720	5	1	81	1	0	0	0	0	0	0	1	0	16252	1159	40	1	2303	1	TMEM63C	14	77719720	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	113920	77719720	29629820	10657	14273											
POMT2	29954	broad.mit.edu	37	14	77767459	77767459	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:77767459G>T	ENST00000261534.4	-	6	992	c.790C>A	c.(790-792)Ctg>Atg	p.L264M		NM_013382.5	NP_037514.2	Q9UKY4	POMT2_HUMAN	protein-O-mannosyltransferase 2	264					protein O-linked glycosylation	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-mannose-protein mannosyltransferase activity|metal ion binding			breast(2)|endometrium(2)|large_intestine(1)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	14			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0292)		TCTCCGAACAGGTACCAAAGG	0.507											OREG0022837	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	150					1.12685e-05	1.27052e-05	1	1	0	T	77767459	G	T	77767459	3	4	81	1	0	0	0	0	1	0	0	0	12294	991	35	4	1526	4	POMT2	14	77767459	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	47739	77767459	29582081	10658	14274											
GSTZ1	2954	broad.mit.edu	37	14	77793211	77793211	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:77793211C>T	ENST00000216465.5	+	3	383	c.98C>T	c.(97-99)aCg>aTg	p.T33M	GSTZ1_ENST00000554279.1_Missense_Mutation_p.T33M|GSTZ1_ENST00000556627.1_Missense_Mutation_p.T33M|GSTZ1_ENST00000557639.1_5'UTR|GSTZ1_ENST00000349555.3_Missense_Mutation_p.T33M|GSTZ1_ENST00000557053.1_5'UTR|GSTZ1_ENST00000393734.1_5'UTR|GSTZ1_ENST00000361389.4_5'UTR|GSTZ1_ENST00000553586.1_Missense_Mutation_p.T34M	NM_145870.2	NP_665877.1	O43708	MAAI_HUMAN	glutathione S-transferase zeta 1	33	GST N-terminal.				glutathione metabolic process|L-phenylalanine catabolic process|tyrosine catabolic process	cytosol|mitochondrion	glutathione peroxidase activity|glutathione transferase activity|maleylacetoacetate isomerase activity|protein homodimerization activity			lung(2)|prostate(1)	3			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0281)	Glutathione(DB00143)	GACTACGAGACGGTGCCCATC	0.547													4	11					0	0	1	0	0	T	77793211	C	T	77793211	3	4	81	1	0	0	0	0	1	0	0	0	6889	536	19	1	108	1	GSTZ1	14	77793211	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	25752	77793211	29556329	10659	14275											
GSTZ1	2954	broad.mit.edu	37	14	77795519	77795519	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:77795519G>T	ENST00000393734.1	+	7	768	c.231G>T	c.(229-231)caG>caT	p.Q77H	GSTZ1_ENST00000216465.5_Missense_Mutation_p.Q132H|GSTZ1_ENST00000554279.1_Missense_Mutation_p.Q118H|GSTZ1_ENST00000556627.1_Missense_Mutation_p.Q105H|GSTZ1_ENST00000557639.1_Missense_Mutation_p.Q77H|GSTZ1_ENST00000349555.3_Missense_Mutation_p.Q90H|GSTZ1_ENST00000557053.1_Missense_Mutation_p.Q35H|GSTZ1_ENST00000361389.4_Missense_Mutation_p.Q77H|GSTZ1_ENST00000553586.1_Missense_Mutation_p.Q133H	NM_001513.3	NP_001504.2	O43708	MAAI_HUMAN	glutathione S-transferase zeta 1	132	GST N-terminal.				glutathione metabolic process|L-phenylalanine catabolic process|tyrosine catabolic process	cytosol|mitochondrion	glutathione peroxidase activity|glutathione transferase activity|maleylacetoacetate isomerase activity|protein homodimerization activity	p.Q77H(1)|p.Q132H(1)		lung(2)|prostate(1)	3			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0281)	Glutathione(DB00143)	CCTGGGCCCAGAACGCCATCA	0.582													14	42					1.15088e-07	1.34837e-07	1	1	0	T	77795519	G	T	77795519	3	4	81	1	0	0	0	0	1	0	0	0	6889	933	33	4	418	4	GSTZ1	14	77795519	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2308	77795519	29554021	10660	14276											
GSTZ1	2954	broad.mit.edu	37	14	77797420	77797420	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:77797420T>C	ENST00000393734.1	+	10	905	c.368T>C	c.(367-369)gTg>gCg	p.V123A	GSTZ1_ENST00000216465.5_Missense_Mutation_p.V178A|GSTZ1_ENST00000554279.1_Missense_Mutation_p.V164A|GSTZ1_ENST00000556627.1_Missense_Mutation_p.V151A|GSTZ1_ENST00000557639.1_Missense_Mutation_p.V123A|GSTZ1_ENST00000349555.3_Missense_Mutation_p.V136A|GSTZ1_ENST00000557053.1_Missense_Mutation_p.V81A|GSTZ1_ENST00000361389.4_Missense_Mutation_p.V123A|GSTZ1_ENST00000553586.1_Missense_Mutation_p.V179A	NM_001513.3	NP_001504.2	O43708	MAAI_HUMAN	glutathione S-transferase zeta 1	178	GST C-terminal.				glutathione metabolic process|L-phenylalanine catabolic process|tyrosine catabolic process	cytosol|mitochondrion	glutathione peroxidase activity|glutathione transferase activity|maleylacetoacetate isomerase activity|protein homodimerization activity			lung(2)|prostate(1)	3			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0281)	Glutathione(DB00143)	AGATTCAAGGTGGATCTCACC	0.577													4	52					0	0	1	0	0	C	77797420	T	C	77797420	3	2	81	1	0	0	0	0	1	0	0	0	6889	1696	59	3	567	3	GSTZ1	14	77797420	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	1901	77797420	29552120	10661	14277											
TMED8	283578	broad.mit.edu	37	14	77809722	77809722	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:77809722G>A	ENST00000216468.7	-	5	614	c.559C>T	c.(559-561)Cgt>Tgt	p.R187C		NM_213601.1	NP_998766.1	Q6PL24	TMED8_HUMAN	transmembrane emp24 protein transport domain containing 8	187	GOLD.				transport	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)	15			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0281)		ACCTCACCACGCTTCACCACC	0.537													8	19					0	0	1	0	0	A	77809722	G	A	77809722	3	1	81	1	0	0	0	0	1	0	0	0	16071	1087	38	1	425	1	TMED8	14	77809722	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	12302	77809722	29539818	10662	14278											
ISM2	145501	broad.mit.edu	37	14	77942399	77942399	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:77942399G>A	ENST00000393684.3	-	8	1382	c.991C>T	c.(991-993)Ctg>Ttg	p.L331L	ISM2_ENST00000493585.1_3'UTR|ISM2_ENST00000342219.4_Silent_p.L419L|ISM2_ENST00000429906.1_Silent_p.L338L|ISM2_ENST00000412904.1_Silent_p.L338L			Q6H9L7	ISM2_HUMAN	isthmin 2	419	TSP type-1.					extracellular region				endometrium(3)|large_intestine(4)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	21						ATCTGGCTCAGATACTTGATT	0.602													15	43					0	0	1	0	0	A	77942399	G	A	77942399	2	1	81	1	0	0	0	0	0	0	0	1	7905	933	33	2		2	ISM2	14	77942399	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	132677	77942399	29407141	10663	14279											
SPTLC2	9517	broad.mit.edu	37	14	78028820	78028820	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:78028820G>T	ENST00000216484.2	-	6	962	c.769C>A	c.(769-771)Ctg>Atg	p.L257M		NM_004863.3	NP_004854.1	O15270	SPTC2_HUMAN	serine palmitoyltransferase, long chain base subunit 2	257						integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups			kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(5)	19			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0346)	L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	TCATCACTCAGAATCAGGCAA	0.433													6	48					5.18039e-06	5.88187e-06	1	1	0	T	78028820	G	T	78028820	3	4	81	1	0	0	0	0	1	0	0	0	15180	933	33	4	947	4	SPTLC2	14	78028820	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	86421	78028820	29320720	10664	14280											
ALKBH1	8846	broad.mit.edu	37	14	78142174	78142174	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:78142174A>G	ENST00000216489.3	-	5	580	c.565T>C	c.(565-567)Tac>Cac	p.Y189H		NM_006020.2	NP_006011.2	Q13686	ALKB1_HUMAN	alkB, alkylation repair homolog 1 (E. coli)	189					DNA dealkylation involved in DNA repair|DNA demethylation|oxidative demethylation|RNA repair	mitochondrion	DNA-(apurinic or apyrimidinic site) lyase activity|ferrous iron binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			endometrium(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	9			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)		AAAGGTGTGTAATGATCTGCT	0.393													19	33					0	0	1	0	0	G	78142174	A	G	78142174	3	3	81	1	0	0	0	0	1	0	0	0	522	362	13	3	612	3	ALKBH1	14	78142174	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	113354	78142174	29207366	10665	14281											
SNW1	22938	broad.mit.edu	37	14	78184425	78184425	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:78184425C>A	ENST00000555761.1	-	13	1725	c.1697G>T	c.(1696-1698)aGg>aTg	p.R566M	SLIRP_ENST00000557623.1_Intron|SNW1_ENST00000261531.7_3'UTR|SLIRP_ENST00000557431.1_Intron|SNW1_ENST00000554775.1_3'UTR			Q13573	SNW1_HUMAN	SNW domain containing 1	0					negative regulation of transcription, DNA-dependent|nuclear mRNA splicing, via spliceosome|regulation of transcription from RNA polymerase II promoter	catalytic step 2 spliceosome|nucleoplasm	Notch binding			NS(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)		TTGGAGAGACCTGTGCCTATT	0.468													11	127					9.31168e-06	1.05369e-05	1	1	0	A	78184425	C	A	78184425	3	1	81	1	0	0	0	0	1	0	0	0	14933	696	24	4		4	SNW1	14	78184425	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	42251	78184425	29165115	10666	14282											
SNW1	22938	broad.mit.edu	37	14	78202306	78202306	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:78202306G>A	ENST00000261531.7	-	7	744	c.682C>T	c.(682-684)Cct>Tct	p.P228S	SNW1_ENST00000555761.1_Missense_Mutation_p.P228S|SLIRP_ENST00000557431.1_Intron|SNW1_ENST00000554775.1_Missense_Mutation_p.P66S	NM_012245.2	NP_036377.1	Q13573	SNW1_HUMAN	SNW domain containing 1	228	Pro-rich.|SNW.				negative regulation of transcription, DNA-dependent|nuclear mRNA splicing, via spliceosome|regulation of transcription from RNA polymerase II promoter	catalytic step 2 spliceosome|nucleoplasm	Notch binding			NS(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)		TGCATGACAGGCGCAGGAGGA	0.388													8	16					0	0	1	0	0	A	78202306	G	A	78202306	3	1	81	1	0	0	0	0	1	0	0	0	14933	1203	42	2	960	2	SNW1	14	78202306	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	17881	78202306	29147234	10667	14283											
ADCK1	57143	broad.mit.edu	37	14	78365463	78365463	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:78365463G>T	ENST00000238561.5	+	6	702	c.603G>T	c.(601-603)aaG>aaT	p.K201N	ADCK1_ENST00000341211.5_Missense_Mutation_p.K133N	NM_020421.3	NP_065154.2	Q86TW2	ADCK1_HUMAN	aarF domain containing kinase 1	208	Protein kinase.					extracellular region	ATP binding|protein serine/threonine kinase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(2)	25			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0376)		TGGCTGTGAAGCAGCTGTTCC	0.507													48	58					2.29192e-23	3.01901e-23	1	1	0	T	78365463	G	T	78365463	3	4	81	1	0	0	0	0	1	0	0	0	287	962	34	4	621	4	ADCK1	14	78365463	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	163157	78365463	28984077	10668	14284											
ADCK1	57143	broad.mit.edu	37	14	78365512	78365512	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:78365512A>G	ENST00000238561.5	+	6	751	c.652A>G	c.(652-654)Aag>Gag	p.K218E	ADCK1_ENST00000341211.5_Missense_Mutation_p.K150E	NM_020421.3	NP_065154.2	Q86TW2	ADCK1_HUMAN	aarF domain containing kinase 1	225	Protein kinase.					extracellular region	ATP binding|protein serine/threonine kinase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(2)	25			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0376)		TGAAGCCAAGAAGAACCTGCC	0.498													8	74					0	0	1	0	0	G	78365512	A	G	78365512	3	3	81	1	0	0	0	0	1	0	0	0	287	247	9	3	670	3	ADCK1	14	78365512	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	49	78365512	28984028	10669	14285											
ADCK1	57143	broad.mit.edu	37	14	78390902	78390902	+	Missense_Mutation	SNP	G	G	A	rs140287525	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:78390902G>A	ENST00000238561.5	+	8	1060	c.961G>A	c.(961-963)Ggc>Agc	p.G321S	ADCK1_ENST00000556560.1_3'UTR|ADCK1_ENST00000341211.5_Missense_Mutation_p.G253S	NM_020421.3	NP_065154.2	Q86TW2	ADCK1_HUMAN	aarF domain containing kinase 1	328	Protein kinase.					extracellular region	ATP binding|protein serine/threonine kinase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(2)	25			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0376)		GAAGCACCCCGGCACGGGAAA	0.582													22	35					0	0	1	0	0	A	78390902	G	A	78390902	3	1	81	1	0	0	0	0	1	0	0	0	287	1116	39	1	987	1	ADCK1	14	78390902	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	25390	78390902	28958638	10670	14286											
ADCK1	57143	broad.mit.edu	37	14	78392212	78392212	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:78392212G>A	ENST00000238561.5	+	9	1213	c.1114G>A	c.(1114-1116)Gat>Aat	p.D372N	ADCK1_ENST00000556560.1_3'UTR|ADCK1_ENST00000341211.5_Missense_Mutation_p.D304N	NM_020421.3	NP_065154.2	Q86TW2	ADCK1_HUMAN	aarF domain containing kinase 1	379	Protein kinase.					extracellular region	ATP binding|protein serine/threonine kinase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(2)	25			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0376)		GGGAGCCGGGGATCTCTACCC	0.587													60	97					0	0	1	0	0	A	78392212	G	A	78392212	3	1	81	1	0	0	0	0	1	0	0	0	287	1174	41	2	1144	2	ADCK1	14	78392212	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1310	78392212	28957328	10671	14287											
NRXN3	9369	broad.mit.edu	37	14	79175605	79175605	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:79175605G>T	ENST00000554719.1	+	4	639	c.148G>T	c.(148-150)Gcc>Tcc	p.A50S	RP11-232C2.2_ENST00000555680.1_RNA|NRXN3_ENST00000335750.5_Missense_Mutation_p.A50S	NM_004796.4	NP_004787.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	0					angiogenesis|cell adhesion	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		GTCTCGCCTGGCCCGGATTGC	0.463													4	55					0.00024832	0.000269806	1	1	0	T	79175605	G	T	79175605	3	4	81	1	0	0	0	0	1	0	0	0	10715	1203	42	5	154	5	NRXN3	14	79175605	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	783393	79175605	28173935	10672	14288											
NRXN3	9369	broad.mit.edu	37	14	79746880	79746880	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:79746880C>T	ENST00000281127.7	+	1	1125	c.246C>T	c.(244-246)caC>caT	p.H82H	NRXN3_ENST00000554719.1_Intron|NRXN3_ENST00000335750.5_Intron|NRXN3_ENST00000428277.2_Splice_Site_p.H82H|NRXN3_ENST00000557594.1_Splice_Site_p.H82H	NM_138970.3	NP_620426.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	82					angiogenesis|cell adhesion	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		GAGGAGGACACGGTAGGTCTC	0.488													5	90					0	0	1	0	0	T	79746880	C	T	79746880	5	4	81	1	0	0	0	0	0	0	1	0	10715	550	19	1	2431	1	NRXN3	14	79746880	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	571275	79746880	27602660	10673	14289											
NRXN3	9369	broad.mit.edu	37	14	79933703	79933703	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:79933703C>T	ENST00000281127.7	+	2	1266	c.387C>T	c.(385-387)atC>atT	p.I129I	NRXN3_ENST00000554719.1_Silent_p.I761I|NRXN3_ENST00000556003.1_3'UTR|NRXN3_ENST00000335750.5_Silent_p.I761I|NRXN3_ENST00000428277.2_Silent_p.I129I|NRXN3_ENST00000557594.1_Silent_p.I129I	NM_138970.3	NP_620426.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	129	Laminin G-like.				angiogenesis|cell adhesion	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		TGGTCCGCATCGACAGTGCTC	0.557													31	34					0	0	1	0	0	T	79933703	C	T	79933703	2	4	81	1	0	0	0	0	0	0	0	1	10715	874	31	1		1	NRXN3	14	79933703	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	186823	79933703	27415837	10674	14290											
DIO2	1734	broad.mit.edu	37	14	80669274	80669274	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:80669274C>T	ENST00000557010.1	-	4	965	c.580G>A	c.(580-582)Gca>Aca	p.A194T	DIO2_ENST00000555750.1_Missense_Mutation_p.A230T|DIO2_ENST00000557125.1_3'UTR|DIO2_ENST00000438257.4_Missense_Mutation_p.A194T|DIO2_ENST00000422005.3_3'UTR	NM_000793.5|NM_001242502.1|NM_001242503.1	NP_000784.2|NP_001229431.1|NP_001229432.1	Q92813	IOD2_HUMAN	deiodinase, iodothyronine, type II	194					hormone biosynthetic process|selenocysteine incorporation|thyroid hormone generation	integral to membrane|plasma membrane	thyroxine 5'-deiodinase activity|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(14)|skin(1)|stomach(1)	25				BRCA - Breast invasive adenocarcinoma(234;0.0281)		TGCTGGGCTGCTGCACATCGA	0.557											OREG0022848	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	22	40					0	0	1	0	0	T	80669274	C	T	80669274	3	4	81	1	0	0	0	0	1	0	0	0	4553	797	28	2	245	2	DIO2	14	80669274	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	735571	80669274	26680266	10675	14291											
DIO2	1734	broad.mit.edu	37	14	80669379	80669379	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:80669379C>T	ENST00000557125.1	-	2	98	c.99G>A	c.(97-99)tgG>tgA	p.W33*	DIO2_ENST00000557010.1_Missense_Mutation_p.V159I|DIO2_ENST00000555750.1_Missense_Mutation_p.V195I|DIO2_ENST00000438257.4_Missense_Mutation_p.V159I|DIO2_ENST00000422005.3_3'UTR			Q92813	IOD2_HUMAN	deiodinase, iodothyronine, type II	0					hormone biosynthetic process|selenocysteine incorporation|thyroid hormone generation	integral to membrane|plasma membrane	thyroxine 5'-deiodinase activity|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(14)|skin(1)|stomach(1)	25				BRCA - Breast invasive adenocarcinoma(234;0.0281)		TCAATGTAGACCAGCAGGAAG	0.542											OREG0022848	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	27					0	0	1	0	0	T	80669379	C	T	80669379	4	4	81	1	0	0	0	0	0	1	0	0	4553	507	18	2	350	2	DIO2	14	80669379	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	105	80669379	26680161	10676	14292											
DIO2	1734	broad.mit.edu	37	14	80677716	80677716	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:80677716G>A	ENST00000557010.1	-	3	485	c.100C>T	c.(100-102)Ctc>Ttc	p.L34F	DIO2_ENST00000555750.1_Missense_Mutation_p.L34F|DIO2_ENST00000557125.1_Intron|DIO2_ENST00000438257.4_Missense_Mutation_p.L34F|DIO2_ENST00000422005.3_Missense_Mutation_p.L34F	NM_000793.5|NM_001242502.1|NM_001242503.1	NP_000784.2|NP_001229431.1|NP_001229432.1	Q92813	IOD2_HUMAN	deiodinase, iodothyronine, type II	34					hormone biosynthetic process|selenocysteine incorporation|thyroid hormone generation	integral to membrane|plasma membrane	thyroxine 5'-deiodinase activity|ubiquitin protein ligase binding	p.L34I(2)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(14)|skin(1)|stomach(1)	25				BRCA - Breast invasive adenocarcinoma(234;0.0281)		ACGTGCTTGAGCAGAATGACC	0.562													3	22					0	0	1	0	0	A	80677716	G	A	80677716	3	1	81	1	0	0	0	0	1	0	0	0	4553	971	34	2	841	2	DIO2	14	80677716	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	8337	80677716	26671824	10677	14293											
TSHR	7253	broad.mit.edu	37	14	81422079	81422079	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:81422079C>A	ENST00000541158.2	+	2	377	c.55C>A	c.(55-57)Ctg>Atg	p.L19M	TSHR_ENST00000554435.1_Missense_Mutation_p.L19M|TSHR_ENST00000557096.1_3'UTR|TSHR_ENST00000298171.2_Missense_Mutation_p.L19M|TSHR_ENST00000554263.1_Missense_Mutation_p.L19M|TSHR_ENST00000342443.6_Missense_Mutation_p.L19M			P16473	TSHR_HUMAN	thyroid stimulating hormone receptor	19					cell-cell signaling|positive regulation of cell proliferation	integral to plasma membrane	protein binding|thyroid-stimulating hormone receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1)	337				BRCA - Breast invasive adenocarcinoma(234;0.0402)	Thyrotropin Alfa(DB00024)	GCCCAGGGACCTGGGCGGAAT	0.612			Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism						8	80					5.18039e-06	5.88187e-06	1	1	0	A	81422079	C	A	81422079	3	1	81	1	0	0	0	0	1	0	0	0	16683	680	24	4	57	4	TSHR	14	81422079	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	744363	81422079	25927461	10678	14294											
TSHR	7253	broad.mit.edu	37	14	81422108	81422108	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:81422108C>A	ENST00000541158.2	+	2	406	c.84C>A	c.(82-84)ccC>ccA	p.P28P	TSHR_ENST00000554435.1_Silent_p.P28P|TSHR_ENST00000557096.1_3'UTR|TSHR_ENST00000298171.2_Silent_p.P28P|TSHR_ENST00000554263.1_Silent_p.P28P|TSHR_ENST00000342443.6_Silent_p.P28P			P16473	TSHR_HUMAN	thyroid stimulating hormone receptor	28					cell-cell signaling|positive regulation of cell proliferation	integral to plasma membrane	protein binding|thyroid-stimulating hormone receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1)	337				BRCA - Breast invasive adenocarcinoma(234;0.0402)	Thyrotropin Alfa(DB00024)	CGTCTCCACCCTGCGAGTGCC	0.622			Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism						47	67					3.61183e-13	4.54773e-13	1	1	0	A	81422108	C	A	81422108	2	1	81	1	0	0	0	0	0	0	0	1	16683	668	24	4		4	TSHR	14	81422108	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	29	81422108	25927432	10679	14295											
TSHR	7253	broad.mit.edu	37	14	81606117	81606117	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:81606117C>T	ENST00000541158.2	+	10	1109	c.787C>T	c.(787-789)Ctt>Ttt	p.L263F	RP11-114N19.3_ENST00000557775.1_RNA|TSHR_ENST00000298171.2_Missense_Mutation_p.L263F			P16473	TSHR_HUMAN	thyroid stimulating hormone receptor	263					cell-cell signaling|positive regulation of cell proliferation	integral to plasma membrane	protein binding|thyroid-stimulating hormone receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1)	337				BRCA - Breast invasive adenocarcinoma(234;0.0402)	Thyrotropin Alfa(DB00024)	TCTTAAGAAACTTCCACTTTC	0.483			Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism						22	24					0	0	1	0	0	T	81606117	C	T	81606117	3	4	81	1	0	0	0	0	1	0	0	0	16683	565	20	2	958	2	TSHR	14	81606117	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	184009	81606117	25743423	10680	14296											
STON2	85439	broad.mit.edu	37	14	81736941	81736941	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:81736941G>A	ENST00000267540.2	-	5	2886	c.2686C>T	c.(2686-2688)Ctt>Ttt	p.L896F	STON2_ENST00000555447.1_Intron	NM_033104.3	NP_149095.2	Q8WXE9	STON2_HUMAN	stonin 2	896					endocytosis|intracellular protein transport|regulation of endocytosis	clathrin adaptor complex|nucleolus	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5)	34				BRCA - Breast invasive adenocarcinoma(234;0.0348)		ATGGCTAAAAGGAATAAGAGG	0.468													30	49					0	0	1	0	0	A	81736941	G	A	81736941	3	1	81	1	0	0	0	0	1	0	0	0	15374	1000	35	2	33	2	STON2	14	81736941	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	130824	81736941	25612599	10681	14297											
STON2	85439	broad.mit.edu	37	14	81737106	81737106	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:81737106A>T	ENST00000555447.1	-	7	2933	c.2521T>A	c.(2521-2523)Tct>Act	p.S841T	STON2_ENST00000267540.2_Missense_Mutation_p.S841T	NM_001256430.1	NP_001243359.1	Q8WXE9	STON2_HUMAN	stonin 2	841	MHD.				endocytosis|intracellular protein transport|regulation of endocytosis	clathrin adaptor complex|nucleolus	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5)	34				BRCA - Breast invasive adenocarcinoma(234;0.0348)		TTGGAGGCAGAAGTTGTGGGC	0.502													39	89					0	0	1	0	0	T	81737106	A	T	81737106	3	4	81	1	0	0	0	0	1	0	0	0	15374	246	9	5	198	5	STON2	14	81737106	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	165	81737106	25612434	10682	14298											
STON2	85439	broad.mit.edu	37	14	81744288	81744288	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:81744288G>A	ENST00000555447.1	-	6	1779	c.1367C>T	c.(1366-1368)aCt>aTt	p.T456I	STON2_ENST00000267540.2_Missense_Mutation_p.T456I	NM_001256430.1	NP_001243359.1	Q8WXE9	STON2_HUMAN	stonin 2	456	SHD.				endocytosis|intracellular protein transport|regulation of endocytosis	clathrin adaptor complex|nucleolus	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5)	34				BRCA - Breast invasive adenocarcinoma(234;0.0348)		CAGGTAACCAGTGTCTGTCAG	0.502													96	160					0	0	1	0	0	A	81744288	G	A	81744288	3	1	81	1	0	0	0	0	1	0	0	0	15374	1029	36	2	1356	2	STON2	14	81744288	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	7182	81744288	25605252	10683	14299											
SEL1L	6400	broad.mit.edu	37	14	81945967	81945967	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:81945967G>A	ENST00000336735.4	-	20	2280	c.2164C>T	c.(2164-2166)Cgg>Tgg	p.R722W		NM_005065.5	NP_005056.3	Q9UBV2	SE1L1_HUMAN	sel-1 suppressor of lin-12-like (C. elegans)	722	Interaction with ERLEC1, OS9 and SYVN1.				Notch signaling pathway	endoplasmic reticulum membrane|integral to membrane	protein binding			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3)	28				BRCA - Breast invasive adenocarcinoma(234;0.0299)		TTTGTTTCCCGTATGTACTGC	0.443													29	44					0	0	1	0	0	A	81945967	G	A	81945967	3	1	81	1	0	0	0	0	1	0	0	0	14064	1144	40	1	228	1	SEL1L	14	81945967	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	201679	81945967	25403573	10684	14300											
SEL1L	6400	broad.mit.edu	37	14	81946082	81946082	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:81946082A>G	ENST00000336735.4	-	20	2165	c.2049T>C	c.(2047-2049)gaT>gaC	p.D683D		NM_005065.5	NP_005056.3	Q9UBV2	SE1L1_HUMAN	sel-1 suppressor of lin-12-like (C. elegans)	683	Interaction with ERLEC1, OS9 and SYVN1.				Notch signaling pathway	endoplasmic reticulum membrane|integral to membrane	protein binding			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3)	28				BRCA - Breast invasive adenocarcinoma(234;0.0299)		CAAGGTGAATATCCTATAATA	0.363													5	62					0	0	1	0	0	G	81946082	A	G	81946082	2	3	81	1	0	0	0	0	0	0	0	1	14064	446	16	3		3	SEL1L	14	81946082	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	115	81946082	25403458	10685	14301											
SEL1L	6400	broad.mit.edu	37	14	81970627	81970627	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:81970627G>A	ENST00000336735.4	-	5	648	c.532C>T	c.(532-534)Cgg>Tgg	p.R178W	SEL1L_ENST00000555824.1_Missense_Mutation_p.R178W	NM_005065.5	NP_005056.3	Q9UBV2	SE1L1_HUMAN	sel-1 suppressor of lin-12-like (C. elegans)	178	Interaction with ERLEC1, OS9 and SYVN1.				Notch signaling pathway	endoplasmic reticulum membrane|integral to membrane	protein binding			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3)	28				BRCA - Breast invasive adenocarcinoma(234;0.0299)		TGCATCTGCCGTCTCTTAGCA	0.353													6	86					0	0	1	0	0	A	81970627	G	A	81970627	3	1	81	1	0	0	0	0	1	0	0	0	14064	1144	40	1	1920	1	SEL1L	14	81970627	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	24545	81970627	25378913	10686	14302											
FLRT2	23768	broad.mit.edu	37	14	86087934	86087934	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:86087934C>T	ENST00000330753.4	+	2	843	c.76C>T	c.(76-78)Ctc>Ttc	p.L26F	FLRT2_ENST00000554746.1_Missense_Mutation_p.L26F	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	26					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		TTCCCTGGGGCTCTACTCACA	0.507													35	41					0	0	1	0	0	T	86087934	C	T	86087934	3	4	81	1	0	0	0	0	1	0	0	0	5972	797	28	2	78	2	FLRT2	14	86087934	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	4117307	86087934	21261606	10687	14303											
FLRT2	23768	broad.mit.edu	37	14	86088012	86088012	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:86088012C>T	ENST00000330753.4	+	2	921	c.154C>T	c.(154-156)Cga>Tga	p.R52*	FLRT2_ENST00000554746.1_Nonsense_Mutation_p.R52*	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	52	LRRNT.				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		CTGTAATGAGCGAAGCTTGAC	0.512													46	62					0	0	1	0	0	T	86088012	C	T	86088012	4	4	81	1	0	0	0	0	0	1	0	0	5972	760	27	1	156	1	FLRT2	14	86088012	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	78	86088012	21261528	10688	14304											
FLRT2	23768	broad.mit.edu	37	14	86088857	86088857	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:86088857C>T	ENST00000330753.4	+	2	1766	c.999C>T	c.(997-999)aaC>aaT	p.N333N	FLRT2_ENST00000554746.1_Silent_p.N333N	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	333	LRRCT.				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		CATCTCTCAACGTGCGGGGTT	0.507													57	117					0	0	1	0	0	T	86088857	C	T	86088857	2	4	81	1	0	0	0	0	0	0	0	1	5972	535	19	1		1	FLRT2	14	86088857	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	845	86088857	21260683	10689	14305											
GPR65	8477	broad.mit.edu	37	14	88477671	88477671	+	Silent	SNP	C	C	T	rs139775422	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:88477671C>T	ENST00000267549.3	+	2	1038	c.480C>T	c.(478-480)tgC>tgT	p.C160C	RP11-300J18.2_ENST00000554433.1_RNA	NM_003608.3	NP_003599.2	Q8IYL9	PSYR_HUMAN	G protein-coupled receptor 65	160					actin cytoskeleton reorganization|activation of Rho GTPase activity|apoptosis|immune response|multicellular organismal development|positive regulation of cAMP biosynthetic process|positive regulation of stress fiber assembly|response to acidity	integral to plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)	16						TTGAATATTGCGATGCCGAAA	0.398													49	79					0	0	1	0	0	T	88477671	C	T	88477671	2	4	81	1	0	0	0	0	0	0	0	1	6746	776	27	1		1	GPR65	14	88477671	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2388814	88477671	18871869	10690	14306											
KCNK10	54207	broad.mit.edu	37	14	88729675	88729675	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:88729675G>A	ENST00000340700.5	-	2	709	c.258C>T	c.(256-258)ggC>ggT	p.G86G	KCNK10_ENST00000312350.5_Silent_p.G91G|KCNK10_ENST00000319231.5_Silent_p.G91G	NM_021161.4	NP_066984.1	P57789	KCNKA_HUMAN	potassium channel, subfamily K, member 10	86					signal transduction	integral to membrane	potassium channel activity|voltage-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						AGACAAGACCGCCAGTGACAA	0.562													34	40					0	0	1	0	0	A	88729675	G	A	88729675	2	1	81	1	0	0	0	0	0	0	0	1	8103	1074	38	1		1	KCNK10	14	88729675	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	252004	88729675	18619865	10691	14307											
KCNK10	54207	broad.mit.edu	37	14	88792790	88792791	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:88792790_88792791insA	ENST00000340700.5	-	1	460_461	c.9_10insT	c.(7-12)tttctcfs	p.L4fs		NM_021161.4	NP_066984.1	P57789	KCNKA_HUMAN	potassium channel, subfamily K, member 10	4					signal transduction	integral to membrane	potassium channel activity|voltage-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						TCTGTGTAGAGAAAAAACATCC	0.5													13	20	---	---	---	---						A	88792791	-	A	88792790	7	5	81	1	0	1	1	0	0	0	0	0	8103	942	33	0	1746	0	KCNK10	14	88792790	Frame_Shift_Ins	INS	-	TCGA-DU-6392-01A-11D-1705-08	63115	88792790	18556750	10692	14308											
PTPN21	11099	broad.mit.edu	37	14	88967684	88967684	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:88967684G>A	ENST00000556564.1	-	7	900	c.616C>T	c.(616-618)Ctg>Ttg	p.L206L	PTPN21_ENST00000554628.1_5'UTR|PTPN21_ENST00000328736.3_Silent_p.L206L|RP11-507K2.2_ENST00000555444.1_RNA	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type 21	206	FERM.					cytoplasm|cytoskeleton	binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						TGCATGTACAGCATTTCAGCA	0.443													8	107					0	0	1	0	0	A	88967684	G	A	88967684	2	1	81	1	0	0	0	0	0	0	0	1	12838	962	34	2		2	PTPN21	14	88967684	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	174894	88967684	18381856	10693	14309											
ZC3H14	79882	broad.mit.edu	37	14	89034493	89034493	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:89034493G>A	ENST00000251038.5	+	3	415	c.190G>A	c.(190-192)Gta>Ata	p.V64I	ZC3H14_ENST00000557607.1_Intron|ZC3H14_ENST00000556945.1_Missense_Mutation_p.V64I|ZC3H14_ENST00000336693.4_Missense_Mutation_p.V30I|ZC3H14_ENST00000555755.1_Missense_Mutation_p.V64I|ZC3H14_ENST00000393514.5_Missense_Mutation_p.V64I|ZC3H14_ENST00000302216.8_Missense_Mutation_p.V64I|ZC3H14_ENST00000359301.3_Missense_Mutation_p.V30I	NM_001160103.1|NM_001160104.1|NM_024824.4	NP_001153575.1|NP_001153576.1|NP_079100.2	Q6PJT7	ZC3HE_HUMAN	zinc finger CCCH-type containing 14	64						cytoplasm|nuclear speck	protein binding|RNA binding|zinc ion binding			cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(2)	21						TCGATTCACCGTATGGTATGT	0.423													15	16					0	0	1	0	0	A	89034493	G	A	89034493	3	1	81	1	0	0	0	0	1	0	0	0	17625	1145	40	1	200	1	ZC3H14	14	89034493	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	66809	89034493	18315047	10694	14310											
ZC3H14	79882	broad.mit.edu	37	14	89038558	89038558	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:89038558C>T	ENST00000251038.5	+	5	645	c.420C>T	c.(418-420)acC>acT	p.T140T	ZC3H14_ENST00000557607.1_5'UTR|ZC3H14_ENST00000556945.1_Silent_p.T140T|ZC3H14_ENST00000336693.4_Silent_p.T106T|ZC3H14_ENST00000555755.1_Silent_p.T140T|ZC3H14_ENST00000393514.5_Silent_p.T140T|ZC3H14_ENST00000302216.8_Silent_p.T140T|ZC3H14_ENST00000359301.3_Silent_p.T106T	NM_001160103.1|NM_001160104.1|NM_024824.4	NP_001153575.1|NP_001153576.1|NP_079100.2	Q6PJT7	ZC3HE_HUMAN	zinc finger CCCH-type containing 14	140						cytoplasm|nuclear speck	protein binding|RNA binding|zinc ion binding			cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(2)	21						AGTCAAAAACCACAAATGTCA	0.448													7	27					0	0	1	0	0	T	89038558	C	T	89038558	2	4	81	1	0	0	0	0	0	0	0	1	17625	581	21	2		2	ZC3H14	14	89038558	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	4065	89038558	18310982	10695	14311											
ZC3H14	79882	broad.mit.edu	37	14	89039186	89039186	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:89039186G>A	ENST00000251038.5	+	6	921	c.696G>A	c.(694-696)ttG>ttA	p.L232L	ZC3H14_ENST00000557607.1_Silent_p.L77L|ZC3H14_ENST00000556945.1_Silent_p.L232L|ZC3H14_ENST00000336693.4_Silent_p.L198L|ZC3H14_ENST00000555755.1_Silent_p.L232L|ZC3H14_ENST00000393514.5_Silent_p.L232L|ZC3H14_ENST00000302216.8_Silent_p.L232L|ZC3H14_ENST00000359301.3_Silent_p.L198L	NM_001160103.1|NM_001160104.1|NM_024824.4	NP_001153575.1|NP_001153576.1|NP_079100.2	Q6PJT7	ZC3HE_HUMAN	zinc finger CCCH-type containing 14	232						cytoplasm|nuclear speck	protein binding|RNA binding|zinc ion binding			cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(2)	21						TAAACAGGTTGCAATTTCAAC	0.418													49	87					0	0	1	0	0	A	89039186	G	A	89039186	2	1	81	1	0	0	0	0	0	0	0	1	17625	1310	46	2		2	ZC3H14	14	89039186	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	628	89039186	18310354	10696	14312											
EML5	161436	broad.mit.edu	37	14	89083115	89083115	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:89083115G>T	ENST00000554922.1	-	42	5999	c.5751C>A	c.(5749-5751)gaC>gaA	p.D1917E	EML5_ENST00000352093.5_Missense_Mutation_p.D1871E|EML5_ENST00000380664.5_Missense_Mutation_p.D1909E	NM_183387.2	NP_899243.1	Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like 5	1909						cytoplasm|microtubule				breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						CCATGCCAAAGTCATCTCCTG	0.373													10	25					4.68919e-08	5.54405e-08	1	1	0	T	89083115	G	T	89083115	3	4	81	1	0	0	0	0	1	0	0	0	5128	1020	36	4	194	4	EML5	14	89083115	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	43929	89083115	18266425	10697	14313											
TTC7B	145567	broad.mit.edu	37	14	91155895	91155895	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:91155895G>A	ENST00000357056.2	-	7	1060	c.939C>T	c.(937-939)taC>taT	p.Y313Y	TTC7B_ENST00000328459.6_Silent_p.Y313Y			Q86TV6	TTC7B_HUMAN	tetratricopeptide repeat domain 7B	313							binding			NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	36		Melanoma(154;0.222)				TCTCTCCTGAGTAGACACGGG	0.483													7	12					0	0	1	0	0	A	91155895	G	A	91155895	2	1	81	1	0	0	0	0	0	0	0	1	16775	1024	36	2		2	TTC7B	14	91155895	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2072780	91155895	16193645	10698	14314											
RPS6KA5	9252	broad.mit.edu	37	14	91386579	91386579	+	Silent	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:91386579T>A	ENST00000261991.3	-	7	950	c.777A>T	c.(775-777)ggA>ggT	p.G259G	RPS6KA5_ENST00000536315.2_Silent_p.G180G|RPS6KA5_ENST00000418736.2_Silent_p.G259G	NM_004755.2	NP_004746.2	O75582	KS6A5_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 5	259	Protein kinase 1.				axon guidance|epidermal growth factor receptor signaling pathway|histone phosphorylation|innate immune response|interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytoplasm|nucleoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	24		all_cancers(154;0.0148)|Melanoma(154;0.099)|all_epithelial(191;0.146)		Epithelial(152;0.182)|BRCA - Breast invasive adenocarcinoma(234;0.201)		AATTTTTTTCTCCATCAACAG	0.343													12	117					0	0	1	0	0	A	91386579	T	A	91386579	2	1	81	1	0	0	0	0	0	0	0	1	13706	1538	54	5		5	RPS6KA5	14	91386579	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	230684	91386579	15962961	10699	14315											
C14orf159	80017	broad.mit.edu	37	14	91655379	91655379	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:91655379G>T	ENST00000518868.1	+	12	1750	c.1060G>T	c.(1060-1062)Gaa>Taa	p.E354*	C14orf159_ENST00000522322.1_Nonsense_Mutation_p.E349*|C14orf159_ENST00000523816.1_Nonsense_Mutation_p.E349*|C14orf159_ENST00000256324.10_Nonsense_Mutation_p.E354*|C14orf159_ENST00000525393.2_Nonsense_Mutation_p.E225*|C14orf159_ENST00000520328.1_Nonsense_Mutation_p.E337*|C14orf159_ENST00000428926.2_Nonsense_Mutation_p.E349*|C14orf159_ENST00000521077.2_Nonsense_Mutation_p.E354*|C14orf159_ENST00000412671.2_Nonsense_Mutation_p.E354*|C14orf159_ENST00000523771.1_Nonsense_Mutation_p.E349*			Q7Z3D6	CN159_HUMAN	chromosome 14 open reading frame 159	349						mitochondrion				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	21		all_cancers(154;0.0191)|all_epithelial(191;0.241)		Epithelial(152;0.141)|OV - Ovarian serous cystadenocarcinoma(161;0.207)		TGAGCCTCCAGAAGAGACAGA	0.557													6	39					3.59834e-05	3.99423e-05	1	1	0	T	91655379	G	T	91655379	4	4	81	1	0	0	0	0	0	1	0	0	1761	943	33	4	1086	4	C14orf159	14	91655379	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	268800	91655379	15694161	10700	14316											
CCDC88C	440193	broad.mit.edu	37	14	91776271	91776271	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:91776271G>T	ENST00000389857.6	-	16	2882	c.2796C>A	c.(2794-2796)agC>agA	p.S932R		NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	932					microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway	cytoplasm|insoluble fraction	microtubule binding|PDZ domain binding|protein self-association			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				CCAGTTCCTGGCTCAGCTTGT	0.602													6	12					0.00307968	0.00324365	1	1	0	T	91776271	G	T	91776271	3	4	81	1	0	0	0	0	1	0	0	0	2885	1194	42	5	3350	5	CCDC88C	14	91776271	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	120892	91776271	15573269	10701	14317											
CCDC88C	440193	broad.mit.edu	37	14	91779811	91779811	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:91779811C>A	ENST00000389857.6	-	15	2435	c.2349G>T	c.(2347-2349)caG>caT	p.Q783H		NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	783					microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway	cytoplasm|insoluble fraction	microtubule binding|PDZ domain binding|protein self-association			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				TCTCCAAGGTCTGCGTCTTGT	0.677													7	13					0.000274275	0.000297259	1	1	0	A	91779811	C	A	91779811	3	1	81	1	0	0	0	0	1	0	0	0	2885	912	32	4	3801	4	CCDC88C	14	91779811	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3540	91779811	15569729	10702	14318											
CCDC88C	440193	broad.mit.edu	37	14	91780360	91780360	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:91780360C>T	ENST00000389857.6	-	15	1886	c.1800G>A	c.(1798-1800)acG>acA	p.T600T		NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	600					microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway	cytoplasm|insoluble fraction	microtubule binding|PDZ domain binding|protein self-association			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				CATTGGCCTCCGTCACCGTCT	0.622													11	24					0	0	1	0	0	T	91780360	C	T	91780360	2	4	81	1	0	0	0	0	0	0	0	1	2885	639	23	1		1	CCDC88C	14	91780360	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	549	91780360	15569180	10703	14319											
SMEK1	55671	broad.mit.edu	37	14	91927861	91927861	+	Missense_Mutation	SNP	G	G	A	rs141774507		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:91927861G>A	ENST00000554684.1	-	14	2712	c.2216C>T	c.(2215-2217)aCg>aTg	p.T739M	SMEK1_ENST00000555718.1_5'UTR|SMEK1_ENST00000555462.1_Missense_Mutation_p.T513M|SMEK1_ENST00000337238.4_Missense_Mutation_p.T739M|SMEK1_ENST00000428424.2_Missense_Mutation_p.T513M|SMEK1_ENST00000554943.1_Missense_Mutation_p.T752M	NM_001284280.1	NP_001271209.1	Q6IN85	P4R3A_HUMAN	SMEK homolog 1, suppressor of mek1 (Dictyostelium)	752						microtubule organizing center|nucleus	protein binding			NS(1)|endometrium(1)|kidney(1)|liver(1)|lung(1)|stomach(1)	6		all_cancers(154;0.0691)|all_epithelial(191;0.219)		COAD - Colon adenocarcinoma(157;0.221)		GTTAGTCTTCGTTCCACTGGA	0.488													84	126					0	0	1	0	0	A	91927861	G	A	91927861	3	1	81	1	0	0	0	0	1	0	0	0	14847	1145	40	1	254	1	SMEK1	14	91927861	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	147501	91927861	15421679	10704	14320											
SMEK1	55671	broad.mit.edu	37	14	91937205	91937205	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:91937205A>G	ENST00000554684.1	-	10	2093	c.1597T>C	c.(1597-1599)Tcg>Ccg	p.S533P	SMEK1_ENST00000555462.1_Missense_Mutation_p.S307P|SMEK1_ENST00000337238.4_Missense_Mutation_p.S533P|SMEK1_ENST00000428424.2_Missense_Mutation_p.S307P|SMEK1_ENST00000554943.1_Missense_Mutation_p.S546P	NM_001284280.1	NP_001271209.1	Q6IN85	P4R3A_HUMAN	SMEK homolog 1, suppressor of mek1 (Dictyostelium)	546						microtubule organizing center|nucleus	protein binding			NS(1)|endometrium(1)|kidney(1)|liver(1)|lung(1)|stomach(1)	6		all_cancers(154;0.0691)|all_epithelial(191;0.219)		COAD - Colon adenocarcinoma(157;0.221)		GCATGCTTCGAGGCCATAAGA	0.333													29	48					0	0	1	0	0	G	91937205	A	G	91937205	3	3	81	1	0	0	0	0	1	0	0	0	14847	304	11	3	889	3	SMEK1	14	91937205	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	9344	91937205	15412335	10705	14321											
SMEK1	55671	broad.mit.edu	37	14	91947962	91947962	+	Silent	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:91947962A>C	ENST00000554684.1	-	4	1369	c.873T>G	c.(871-873)tcT>tcG	p.S291S	SMEK1_ENST00000555462.1_Intron|SMEK1_ENST00000337238.4_Silent_p.S291S|SMEK1_ENST00000428424.2_Intron|SMEK1_ENST00000554943.1_Silent_p.S291S	NM_001284280.1	NP_001271209.1	Q6IN85	P4R3A_HUMAN	SMEK homolog 1, suppressor of mek1 (Dictyostelium)	291						microtubule organizing center|nucleus	protein binding			NS(1)|endometrium(1)|kidney(1)|liver(1)|lung(1)|stomach(1)	6		all_cancers(154;0.0691)|all_epithelial(191;0.219)		COAD - Colon adenocarcinoma(157;0.221)		AAAAGATAAAAGAGTGAAGTG	0.338													11	20					0	0	1	0	0	C	91947962	A	C	91947962	2	2	81	1	0	0	0	0	0	0	0	1	14847	59	3	5		5	SMEK1	14	91947962	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	10757	91947962	15401578	10706	14322											
SMEK1	55671	broad.mit.edu	37	14	91948197	91948197	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:91948197G>A	ENST00000554684.1	-	4	1134	c.638C>T	c.(637-639)tCt>tTt	p.S213F	SMEK1_ENST00000555462.1_Intron|SMEK1_ENST00000337238.4_Missense_Mutation_p.S213F|SMEK1_ENST00000428424.2_Intron|SMEK1_ENST00000554943.1_Missense_Mutation_p.S213F	NM_001284280.1	NP_001271209.1	Q6IN85	P4R3A_HUMAN	SMEK homolog 1, suppressor of mek1 (Dictyostelium)	213						microtubule organizing center|nucleus	protein binding			NS(1)|endometrium(1)|kidney(1)|liver(1)|lung(1)|stomach(1)	6		all_cancers(154;0.0691)|all_epithelial(191;0.219)		COAD - Colon adenocarcinoma(157;0.221)		ACATTCTTCAGAGAACATAAC	0.348													26	48					0	0	1	0	0	A	91948197	G	A	91948197	3	1	81	1	0	0	0	0	1	0	0	0	14847	942	33	2	1872	2	SMEK1	14	91948197	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	235	91948197	15401343	10707	14323											
FBLN5	10516	broad.mit.edu	37	14	92353550	92353550	+	Silent	SNP	G	G	A	rs148209555		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:92353550G>A	ENST00000267620.10	-	8	1018	c.849C>T	c.(847-849)ggC>ggT	p.G283G	FBLN5_ENST00000342058.4_Silent_p.G242G|FBLN5_ENST00000556154.1_Silent_p.G247G			Q9UBX5	FBLN5_HUMAN	fibulin 5	242	EGF-like 5; calcium-binding (Potential).				cell-matrix adhesion|elastic fiber assembly|protein localization at cell surface|regulation of removal of superoxide radicals	extracellular space|proteinaceous extracellular matrix|soluble fraction	calcium ion binding|integrin binding|protein C-terminus binding	p.G242G(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	28		all_cancers(154;0.0722)				TGCAATGAACGCCATCTTCCT	0.547													11	141					0	0	1	0	0	A	92353550	G	A	92353550	2	1	81	1	0	0	0	0	0	0	0	1	5733	1074	38	1		1	FBLN5	14	92353550	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	405353	92353550	14995990	10708	14324											
TRIP11	9321	broad.mit.edu	37	14	92436087	92436087	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:92436087G>A	ENST00000267622.4	-	21	6243	c.5870C>T	c.(5869-5871)aCa>aTa	p.T1957I		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	1957					transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		AGGTGTAAATGTGGGCAAAAC	0.502			T	PDGFRB	AML								5	73					0	0	1	0	0	A	92436087	G	A	92436087	3	1	81	1	0	0	0	0	1	0	0	0	16616	1377	48	2	73	2	TRIP11	14	92436087	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	82537	92436087	14913453	10709	14325											
TRIP11	9321	broad.mit.edu	37	14	92470569	92470569	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:92470569C>A	ENST00000267622.4	-	11	4124	c.3751G>T	c.(3751-3753)Gca>Tca	p.A1251S		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	1251					transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		AAAACCTGTGCTTGAAGTTGG	0.398			T	PDGFRB	AML								29	33					1.74807e-11	2.16744e-11	1	1	0	A	92470569	C	A	92470569	3	1	81	1	0	0	0	0	1	0	0	0	16616	797	28	4	2232	4	TRIP11	14	92470569	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	34482	92470569	14878971	10710	14326											
TRIP11	9321	broad.mit.edu	37	14	92471958	92471958	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:92471958C>T	ENST00000267622.4	-	11	2735	c.2362G>A	c.(2362-2364)Gac>Aac	p.D788N		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	788					transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		TCTTTATGGTCAGTATCCATT	0.318			T	PDGFRB	AML								50	112					0	0	1	0	0	T	92471958	C	T	92471958	3	4	81	1	0	0	0	0	1	0	0	0	16616	826	29	2	3621	2	TRIP11	14	92471958	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1389	92471958	14877582	10711	14327											
RIN3	79890	broad.mit.edu	37	14	93118183	93118183	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:93118183G>A	ENST00000216487.7	+	6	948	c.789G>A	c.(787-789)ccG>ccA	p.P263P	RIN3_ENST00000418924.2_3'UTR	NM_024832.3	NP_079108.3	Q8TB24	RIN3_HUMAN	Ras and Rab interactor 3	263	Pro-rich.				endocytosis|signal transduction	cytoplasmic membrane-bounded vesicle|early endosome	GTPase activator activity|Ras GTPase binding			endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36		all_cancers(154;0.0701)				GCCCTTTGCCGCCCACCTCTG	0.672													18	31					0	0	1	0	0	A	93118183	G	A	93118183	2	1	81	1	0	0	0	0	0	0	0	1	13425	1074	38	1		1	RIN3	14	93118183	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	646225	93118183	14231357	10712	14328											
LGMN	5641	broad.mit.edu	37	14	93185138	93185138	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:93185138C>T	ENST00000393218.2	-	4	527	c.190G>A	c.(190-192)Gaa>Aaa	p.E64K	LGMN_ENST00000555699.1_Missense_Mutation_p.E64K|LGMN_ENST00000334869.4_Missense_Mutation_p.E64K|LGMN_ENST00000557434.1_Missense_Mutation_p.E64K	NM_001008530.2	NP_001008530.1	Q99538	LGMN_HUMAN	legumain	64					hormone biosynthetic process|negative regulation of neuron apoptosis|vitamin D metabolic process	lysosome	cysteine-type endopeptidase activity|protein serine/threonine kinase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|skin(2)	18		all_cancers(154;0.0706)		COAD - Colon adenocarcinoma(157;0.224)		ACGATCTGTTCGTCAGGAATC	0.468													23	46					0	0	1	0	0	T	93185138	C	T	93185138	3	4	81	1	0	0	0	0	1	0	0	0	8795	893	31	1	1159	1	LGMN	14	93185138	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	66955	93185138	14164402	10713	14329											
GOLGA5	9950	broad.mit.edu	37	14	93276605	93276605	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:93276605G>A	ENST00000163416.2	+	5	1255	c.999G>A	c.(997-999)atG>atA	p.M333I	GOLGA5_ENST00000355976.2_Missense_Mutation_p.M333I	NM_005113.2	NP_005104	Q8TBA6	GOGA5_HUMAN	golgin A5	333					Golgi organization	cis-Golgi network|integral to membrane	ATP binding|protein homodimerization activity|protein tyrosine kinase activity|Rab GTPase binding			large_intestine(6)|lung(1)|ovary(2)	9		all_cancers(154;0.0934)		COAD - Colon adenocarcinoma(157;0.222)		TTAGAATAATGCAGGATCAAA	0.423			T	RET	papillary thyroid								12	16					0	0	1	0	0	A	93276605	G	A	93276605	3	1	81	1	0	0	0	0	1	0	0	0	6598	1319	46	2	1013	2	GOLGA5	14	93276605	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	91467	93276605	14072935	10714	14330											
ITPK1	3705	broad.mit.edu	37	14	93408082	93408082	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:93408082C>T	ENST00000267615.6	-	11	1242	c.1069G>A	c.(1069-1071)Gcc>Acc	p.A357T	ITPK1_ENST00000354313.3_Intron|ITPK1_ENST00000556603.2_Missense_Mutation_p.A357T|ITPK1_ENST00000555495.1_Missense_Mutation_p.A238T			Q13572	ITPK1_HUMAN	inositol-tetrakisphosphate 1-kinase	357					blood coagulation|inositol trisphosphate metabolic process|signal transduction	cytosol	ATP binding|hydrolase activity|inositol tetrakisphosphate 1-kinase activity|inositol-1,3,4-trisphosphate 5/6-kinase activity|isomerase activity|ligase activity|magnesium ion binding			endometrium(1)|large_intestine(3)|lung(6)|ovary(1)	11		all_cancers(154;0.077)|all_epithelial(191;0.247)		Epithelial(152;0.124)|all cancers(159;0.169)		CCGGGGCTGGCGCTGCATGTC	0.736													4	4					0	0	1	0	0	T	93408082	C	T	93408082	3	4	81	1	0	0	0	0	1	0	0	0	7960	768	27	1	227	1	ITPK1	14	93408082	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	131477	93408082	13941458	10715	14331											
ITPK1	3705	broad.mit.edu	37	14	93429188	93429188	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:93429188C>A	ENST00000267615.6	-	6	544	c.371G>T	c.(370-372)aGg>aTg	p.R124M	ITPK1_ENST00000556954.1_5'UTR|ITPK1_ENST00000354313.3_Missense_Mutation_p.R124M|ITPK1_ENST00000556603.2_Missense_Mutation_p.R124M|ITPK1_ENST00000555495.1_Missense_Mutation_p.R5M			Q13572	ITPK1_HUMAN	inositol-tetrakisphosphate 1-kinase	124	ATP-grasp.				blood coagulation|inositol trisphosphate metabolic process|signal transduction	cytosol	ATP binding|hydrolase activity|inositol tetrakisphosphate 1-kinase activity|inositol-1,3,4-trisphosphate 5/6-kinase activity|isomerase activity|ligase activity|magnesium ion binding			endometrium(1)|large_intestine(3)|lung(6)|ovary(1)	11		all_cancers(154;0.077)|all_epithelial(191;0.247)		Epithelial(152;0.124)|all cancers(159;0.169)		CGAGCAGATCCTGTCGTCTAG	0.647													14	29					9.31168e-06	1.05369e-05	1	1	0	A	93429188	C	A	93429188	3	1	81	1	0	0	0	0	1	0	0	0	7960	681	24	4	945	4	ITPK1	14	93429188	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	21106	93429188	13920352	10716	14332											
DDX24	57062	broad.mit.edu	37	14	94528948	94528948	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:94528948G>T	ENST00000330836.5	-	3	869	c.738C>A	c.(736-738)gcC>gcA	p.A246A	DDX24_ENST00000555054.1_Silent_p.A203A|DDX24_ENST00000544005.1_5'UTR	NM_020414.3	NP_065147.1	Q9GZR7	DDX24_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 24	246	Helicase ATP-binding.				RNA metabolic process	cytoplasm|nucleolus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			cervix(3)|endometrium(4)|kidney(4)|large_intestine(5)|lung(3)|ovary(2)|skin(1)|urinary_tract(1)	23		all_cancers(154;0.12)		Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207)		GGATGGCAAAGGCAAGAGTTT	0.423													8	66					4.68919e-08	5.54405e-08	1	1	0	T	94528948	G	T	94528948	2	4	81	1	0	0	0	0	0	0	0	1	4374	987	35	4		4	DDX24	14	94528948	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1099760	94528948	12820592	10717	14333											
DDX24	57062	broad.mit.edu	37	14	94545559	94545559	+	Missense_Mutation	SNP	G	G	A	rs145620061	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:94545559G>A	ENST00000330836.5	-	2	661	c.530C>T	c.(529-531)gCg>gTg	p.A177V	DDX24_ENST00000555054.1_Missense_Mutation_p.A134V|DDX24_ENST00000544005.1_Intron	NM_020414.3	NP_065147.1	Q9GZR7	DDX24_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 24	177					RNA metabolic process	cytoplasm|nucleolus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			cervix(3)|endometrium(4)|kidney(4)|large_intestine(5)|lung(3)|ovary(2)|skin(1)|urinary_tract(1)	23		all_cancers(154;0.12)		Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207)		CCATGTCTTCGCTTTTTTGGG	0.468													25	30					0	0	1	0	0	A	94545559	G	A	94545559	3	1	81	1	0	0	0	0	1	0	0	0	4374	1087	38	1	2081	1	DDX24	14	94545559	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	16611	94545559	12803981	10718	14334											
SERPINA11	256394	broad.mit.edu	37	14	94914738	94914738	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:94914738G>T	ENST00000334708.3	-	2	438	c.374C>A	c.(373-375)aCc>aAc	p.T125N	RP11-349I1.2_ENST00000536735.1_RNA	NM_001080451.1	NP_001073920.1	Q86U17	SPA11_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 11	125					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(14)|skin(1)|upper_aerodigestive_tract(1)	24				COAD - Colon adenocarcinoma(157;0.211)		CAGGGCAAGGGTGTGGAGGAG	0.557													59	116					9.10829e-22	1.1944e-21	1	1	0	T	94914738	G	T	94914738	3	4	81	1	0	0	0	0	1	0	0	0	14142	1261	44	5	910	5	SERPINA11	14	94914738	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	369179	94914738	12434802	10719	14335											
SERPINA11	256394	broad.mit.edu	37	14	94914893	94914893	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:94914893G>T	ENST00000334708.3	-	2	283	c.219C>A	c.(217-219)atC>atA	p.I73I	RP11-349I1.2_ENST00000536735.1_RNA	NM_001080451.1	NP_001073920.1	Q86U17	SPA11_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 11	73					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(14)|skin(1)|upper_aerodigestive_tract(1)	24				COAD - Colon adenocarcinoma(157;0.211)		GCGAGAAGAAGATGTTTCCGG	0.567													11	154					3.86212e-05	4.27865e-05	1	1	0	T	94914893	G	T	94914893	2	4	81	1	0	0	0	0	0	0	0	1	14142	932	33	4		4	SERPINA11	14	94914893	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	155	94914893	12434647	10720	14336											
SERPINA12	145264	broad.mit.edu	37	14	94964255	94964255	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:94964255G>A	ENST00000341228.2	-	3	1275	c.480C>T	c.(478-480)gcC>gcT	p.A160A	SERPINA12_ENST00000556881.1_Silent_p.A160A	NM_173850.2	NP_776249.1	Q8IW75	SPA12_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12	160					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	p.A160A(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33				COAD - Colon adenocarcinoma(157;0.235)		GGATGGTTTCGGCACTGTAAA	0.443													31	68					0	0	1	0	0	A	94964255	G	A	94964255	2	1	81	1	0	0	0	0	0	0	0	1	14143	1103	39	1		1	SERPINA12	14	94964255	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	49362	94964255	12385285	10721	14337											
SERPINA12	145264	broad.mit.edu	37	14	94964601	94964601	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:94964601G>A	ENST00000341228.2	-	3	929	c.134C>T	c.(133-135)gCc>gTc	p.A45V	SERPINA12_ENST00000556881.1_Missense_Mutation_p.A45V	NM_173850.2	NP_776249.1	Q8IW75	SPA12_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12	45					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33				COAD - Colon adenocarcinoma(157;0.235)		AAGCTCCTTGGCTGCCATCCT	0.502													58	108					0	0	1	0	0	A	94964601	G	A	94964601	3	1	81	1	0	0	0	0	1	0	0	0	14143	1203	42	2	1126	2	SERPINA12	14	94964601	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	346	94964601	12384939	10722	14338											
SERPINA4	5267	broad.mit.edu	37	14	95033320	95033320	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:95033320A>T	ENST00000557004.1	+	3	1084	c.663A>T	c.(661-663)aaA>aaT	p.K221N	SERPINA5_ENST00000553780.1_Intron|SERPINA4_ENST00000298841.5_Missense_Mutation_p.K221N|SERPINA4_ENST00000555095.1_Missense_Mutation_p.K221N			P29622	KAIN_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4	221					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(28)|ovary(3)|skin(1)|urinary_tract(1)	46				COAD - Colon adenocarcinoma(157;0.211)		TGTGGGAGAAACCATTCATTT	0.522													5	53					0	0	1	0	0	T	95033320	A	T	95033320	3	4	81	1	0	0	0	0	1	0	0	0	14145	40	2	5	669	5	SERPINA4	14	95033320	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	68719	95033320	12316220	10723	14339											
SERPINA3	12	broad.mit.edu	37	14	95080923	95080923	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:95080923T>A	ENST00000467132.1	+	2	1293	c.145T>A	c.(145-147)Tta>Ata	p.L49I	RP11-986E7.7_ENST00000553947.1_3'UTR|SERPINA3_ENST00000393080.4_Missense_Mutation_p.L49I|SERPINA3_ENST00000393078.3_Missense_Mutation_p.L49I			P01011	AACT_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3	49					acute-phase response|maintenance of gastrointestinal epithelium|regulation of lipid metabolic process|regulation of proteolysis	extracellular region|nucleus	DNA binding|protein binding|serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(17)|ovary(2)|pancreas(1)|skin(3)|stomach(1)	40		all_cancers(154;0.0525)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228)		GGACCTCGGATTAGCCTCCGC	0.562													10	87					0	0	1	0	0	A	95080923	T	A	95080923	3	1	81	1	0	0	0	0	1	0	0	0	14144	1490	52	4	147	4	SERPINA3	14	95080923	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	47603	95080923	12268617	10724	14340											
SERPINA3	12	broad.mit.edu	37	14	95088767	95088767	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:95088767C>T	ENST00000467132.1	+	4	2155	c.1007C>T	c.(1006-1008)gCc>gTc	p.A336V	RP11-986E7.7_ENST00000553947.1_3'UTR|SERPINA3_ENST00000482740.1_Missense_Mutation_p.A118V|SERPINA3_ENST00000393080.4_Missense_Mutation_p.A336V|SERPINA3_ENST00000393078.3_Missense_Mutation_p.A336V			P01011	AACT_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3	336					acute-phase response|maintenance of gastrointestinal epithelium|regulation of lipid metabolic process|regulation of proteolysis	extracellular region|nucleus	DNA binding|protein binding|serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(17)|ovary(2)|pancreas(1)|skin(3)|stomach(1)	40		all_cancers(154;0.0525)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228)		ATTGAGGAAGCCTTCACCAGC	0.502													17	39					0	0	1	0	0	T	95088767	C	T	95088767	3	4	81	1	0	0	0	0	1	0	0	0	14144	739	26	2	1017	2	SERPINA3	14	95088767	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	7844	95088767	12260773	10725	14341											
DICER1	23405	broad.mit.edu	37	14	95560464	95560464	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:95560464C>T	ENST00000526495.1	-	26	5416	c.5125G>A	c.(5125-5127)Gat>Aat	p.D1709N	DICER1_ENST00000541352.1_Missense_Mutation_p.D1709N|DICER1_ENST00000393063.1_Missense_Mutation_p.D1709N|DICER1_ENST00000527414.1_Missense_Mutation_p.D1709N|DICER1_ENST00000556045.1_Missense_Mutation_p.D607N|DICER1_ENST00000343455.3_Missense_Mutation_p.D1709N			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	1709	RNase III 2.				negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity	p.D1709N(1)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		AAAATCGCATCTCCCAGGAAT	0.527			"Mis F, N"		"sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome				20	34					0	0	1	0	0	T	95560464	C	T	95560464	3	4	81	1	0	0	0	0	1	0	0	0	4549	913	32	2	659	2	DICER1	14	95560464	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	471697	95560464	11789076	10726	14342											
DICER1	23405	broad.mit.edu	37	14	95577792	95577792	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:95577792G>A	ENST00000526495.1	-	16	2409	c.2118C>T	c.(2116-2118)ggC>ggT	p.G706G	DICER1_ENST00000541352.1_Splice_Site_p.G706G|DICER1_ENST00000393063.1_Splice_Site_p.G706G|DICER1_ENST00000527414.1_Splice_Site_p.G706G|DICER1_ENST00000343455.3_Splice_Site_p.G706G			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	706	Dicer dsRNA-binding fold.				negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		CATCCAGTTCGCCTAACAAAT	0.368			"Mis F, N"		"sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome				47	69					0	0	1	0	0	A	95577792	G	A	95577792	5	1	81	1	0	0	0	0	0	0	1	0	4549	1101	38	1	3706	1	DICER1	14	95577792	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	17328	95577792	11771748	10727	14343											
CLMN	79789	broad.mit.edu	37	14	95669561	95669561	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:95669561C>T	ENST00000298912.4	-	9	2238	c.2125G>A	c.(2125-2127)Gat>Aat	p.D709N		NM_024734.3	NP_079010.2	Q96JQ2	CLMN_HUMAN	calmin (calponin-like, transmembrane)	709						integral to membrane	actin binding			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(17)|prostate(3)|skin(3)	44				Epithelial(152;0.193)		GGCTTGAAATCCAGGCCTTCT	0.567													22	30					0	0	1	0	0	T	95669561	C	T	95669561	3	4	81	1	0	0	0	0	1	0	0	0	3565	855	30	2	903	2	CLMN	14	95669561	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	91769	95669561	11679979	10728	14344											
CLMN	79789	broad.mit.edu	37	14	95670713	95670713	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:95670713C>T	ENST00000298912.4	-	9	1086	c.973G>A	c.(973-975)Gtc>Atc	p.V325I		NM_024734.3	NP_079010.2	Q96JQ2	CLMN_HUMAN	calmin (calponin-like, transmembrane)	325						integral to membrane	actin binding			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(17)|prostate(3)|skin(3)	44				Epithelial(152;0.193)		AGAACGAAGACTTTGCTCTCC	0.433													36	57					0	0	1	0	0	T	95670713	C	T	95670713	3	4	81	1	0	0	0	0	1	0	0	0	3565	565	20	2	2055	2	CLMN	14	95670713	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1152	95670713	11678827	10729	14345											
TCL1A	8115	broad.mit.edu	37	14	96178700	96178700	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:96178700G>A	ENST00000402399.1	-	2	283	c.154C>T	c.(154-156)Cgt>Tgt	p.R52C	RP11-164H13.1_ENST00000547644.2_RNA|TCL1A_ENST00000554012.1_Missense_Mutation_p.R52C|TCL1A_ENST00000556450.1_Missense_Mutation_p.R52C|RP11-164H13.1_ENST00000553445.1_RNA|TCL1A_ENST00000555202.1_Missense_Mutation_p.R52C	NM_021966.2	NP_068801.1	P56279	TCL1A_HUMAN	T-cell leukemia/lymphoma 1A	52					multicellular organismal development	endoplasmic reticulum|microsome				haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(5)|prostate(1)|skin(1)	12		all_cancers(154;0.103)		COAD - Colon adenocarcinoma(157;0.205)|Epithelial(152;0.248)		TCTTCCCGACGCAAGAGCACC	0.567			T	TRA@	T-CLL								26	40					0	0	1	0	0	A	96178700	G	A	96178700	3	1	81	1	0	0	0	0	1	0	0	0	15764	1087	38	1	198	1	TCL1A	14	96178700	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	507987	96178700	11170840	10730	14346											
BDKRB1	623	broad.mit.edu	37	14	96730334	96730334	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:96730334C>T	ENST00000216629.6	+	3	921	c.315C>T	c.(313-315)ttC>ttT	p.F105F	RP11-404P21.3_ENST00000553638.1_RNA|BDKRB1_ENST00000553356.1_Silent_p.F105F	NM_000710.3	NP_000701.2	P46663	BKRB1_HUMAN	bradykinin receptor B1	105					elevation of cytosolic calcium ion concentration	endoplasmic reticulum|integral to plasma membrane	bradykinin receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|ovary(4)|skin(1)|urinary_tract(1)	16		all_cancers(154;0.0677)|Melanoma(154;0.155)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.208)|Epithelial(152;0.226)		ACTGGCCTTTCGGAGCCCTCC	0.557													27	39					0	0	1	0	0	T	96730334	C	T	96730334	2	4	81	1	0	0	0	0	0	0	0	1	1390	883	31	1		1	BDKRB1	14	96730334	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	551634	96730334	10619206	10731	14347											
ATG2B	55102	broad.mit.edu	37	14	96784097	96784097	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:96784097C>A	ENST00000359933.4	-	19	3868	c.2975G>T	c.(2974-2976)aGt>aTt	p.S992I		NM_018036.5	NP_060506	Q96BY7	ATG2B_HUMAN	autophagy related 2B	992										breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		AATGAGCTGACTGGCTACTGA	0.348													38	64					1.30998e-17	1.69175e-17	1	1	0	A	96784097	C	A	96784097	3	1	81	1	0	0	0	0	1	0	0	0	1093	565	20	4	3357	4	ATG2B	14	96784097	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	53763	96784097	10565443	10732	14348											
ATG2B	55102	broad.mit.edu	37	14	96795843	96795843	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:96795843G>T	ENST00000359933.4	-	12	2752	c.1859C>A	c.(1858-1860)tCt>tAt	p.S620Y		NM_018036.5	NP_060506	Q96BY7	ATG2B_HUMAN	autophagy related 2B	620										breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		AGGAGGAACAGAATGAAAATC	0.313													7	70					0.00198382	0.00209725	1	1	0	T	96795843	G	T	96795843	3	4	81	1	0	0	0	0	1	0	0	0	1093	942	33	4	4501	4	ATG2B	14	96795843	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	11746	96795843	10553697	10733	14349											
PAPOLA	10914	broad.mit.edu	37	14	96986534	96986534	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:96986534G>A	ENST00000216277.8	+	2	371	c.151G>A	c.(151-153)Gtt>Att	p.V51I	PAPOLA_ENST00000557320.1_Missense_Mutation_p.V51I|PAPOLA_ENST00000557471.1_Missense_Mutation_p.V51I|PAPOLA_ENST00000554130.1_3'UTR|PAPOLA_ENST00000392990.2_Missense_Mutation_p.V51I	NM_032632.4	NP_116021.2	P51003	PAPOA_HUMAN	poly(A) polymerase alpha	51					mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	cytoplasm|nucleoplasm	ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|RNA binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(1)	21		all_cancers(154;0.0555)|all_epithelial(191;0.149)|Melanoma(154;0.155)		COAD - Colon adenocarcinoma(157;0.213)		ACCCTTTGGGGTTTTTGAAGA	0.383													11	81					0	0	1	0	0	A	96986534	G	A	96986534	3	1	81	1	0	0	0	0	1	0	0	0	11476	1261	44	2	157	2	PAPOLA	14	96986534	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	190691	96986534	10363006	10734	14350											
PAPOLA	10914	broad.mit.edu	37	14	96994341	96994341	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:96994341G>T	ENST00000216277.8	+	6	713	c.493G>T	c.(493-495)Gag>Tag	p.E165*	PAPOLA_ENST00000557320.1_Nonsense_Mutation_p.E165*|PAPOLA_ENST00000557471.1_Nonsense_Mutation_p.E165*|PAPOLA_ENST00000554130.1_3'UTR|PAPOLA_ENST00000392990.2_Nonsense_Mutation_p.E165*	NM_032632.4	NP_116021.2	P51003	PAPOA_HUMAN	poly(A) polymerase alpha	165					mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	cytoplasm|nucleoplasm	ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|RNA binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(1)	21		all_cancers(154;0.0555)|all_epithelial(191;0.149)|Melanoma(154;0.155)		COAD - Colon adenocarcinoma(157;0.213)		TGATGGGATAGAGGTAAGGTA	0.333													52	109					2.74224e-37	3.67689e-37	1	1	0	T	96994341	G	T	96994341	4	4	81	1	0	0	0	0	0	1	0	0	11476	943	33	4	515	4	PAPOLA	14	96994341	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	7807	96994341	10355199	10735	14351											
PAPOLA	10914	broad.mit.edu	37	14	96998682	96998682	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:96998682G>A	ENST00000216277.8	+	8	842	c.622G>A	c.(622-624)Gat>Aat	p.D208N	PAPOLA_ENST00000557320.1_Missense_Mutation_p.D208N|PAPOLA_ENST00000392990.2_Missense_Mutation_p.D208N	NM_032632.4	NP_116021.2	P51003	PAPOA_HUMAN	poly(A) polymerase alpha	208				CRVTDEILHLVPNIDNFRLTLRAIKLWAKRHNIYS -> MR KPTSFCVLQFLSDISCFYTSFVLKLFIAILLTQ (in Ref. 2; CAD61935).	mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	cytoplasm|nucleoplasm	ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|RNA binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(1)	21		all_cancers(154;0.0555)|all_epithelial(191;0.149)|Melanoma(154;0.155)		COAD - Colon adenocarcinoma(157;0.213)		CAGGGTAACCGATGAAATTTT	0.348													12	25					0	0	1	0	0	A	96998682	G	A	96998682	3	1	81	1	0	0	0	0	1	0	0	0	11476	1058	37	1	652	1	PAPOLA	14	96998682	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	4341	96998682	10350858	10736	14352											
PAPOLA	10914	broad.mit.edu	37	14	97002275	97002275	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:97002275G>A	ENST00000216277.8	+	11	1189	c.969G>A	c.(967-969)caG>caA	p.Q323Q	PAPOLA_ENST00000392990.2_Silent_p.Q323Q	NM_032632.4	NP_116021.2	P51003	PAPOA_HUMAN	poly(A) polymerase alpha	323					mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	cytoplasm|nucleoplasm	ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|RNA binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(1)	21		all_cancers(154;0.0555)|all_epithelial(191;0.149)|Melanoma(154;0.155)		COAD - Colon adenocarcinoma(157;0.213)		ACCCACAACAGAACTCCACGT	0.403													28	57					0	0	1	0	0	A	97002275	G	A	97002275	2	1	81	1	0	0	0	0	0	0	0	1	11476	933	33	2		2	PAPOLA	14	97002275	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	3593	97002275	10347265	10737	14353											
PAPOLA	10914	broad.mit.edu	37	14	97009208	97009208	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:97009208G>A	ENST00000216277.8	+	14	1487	c.1267G>A	c.(1267-1269)Gca>Aca	p.A423T	PAPOLA_ENST00000392990.2_Missense_Mutation_p.A423T	NM_032632.4	NP_116021.2	P51003	PAPOA_HUMAN	poly(A) polymerase alpha	423					mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	cytoplasm|nucleoplasm	ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|RNA binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(1)	21		all_cancers(154;0.0555)|all_epithelial(191;0.149)|Melanoma(154;0.155)		COAD - Colon adenocarcinoma(157;0.213)		GTCATTTCCAGCACCCAAAGA	0.383													33	82					0	0	1	0	0	A	97009208	G	A	97009208	3	1	81	1	0	0	0	0	1	0	0	0	11476	971	34	2	1321	2	PAPOLA	14	97009208	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	6933	97009208	10340332	10738	14354											
VRK1	7443	broad.mit.edu	37	14	97342375	97342375	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:97342375G>T	ENST00000216639.3	+	12	1226	c.1077G>T	c.(1075-1077)aaG>aaT	p.K359N	VRK1_ENST00000555067.1_3'UTR	NM_003384.2	NP_003375.1	Q99986	VRK1_HUMAN	vaccinia related kinase 1	359						cytoplasm|nucleolus	ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|endometrium(1)|large_intestine(5)|lung(3)|skin(1)|stomach(1)	12		Melanoma(154;0.155)		COAD - Colon adenocarcinoma(157;0.234)		AGAAGCGAAAGAAAGAAATTG	0.373													13	123					0.00185496	0.00197056	1	1	0	T	97342375	G	T	97342375	3	4	81	1	0	0	0	0	1	0	0	0	17279	933	33	4	1119	4	VRK1	14	97342375	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	333167	97342375	10007165	10739	14355											
C14orf177	283598	broad.mit.edu	37	14	99182651	99182651	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:99182651C>T	ENST00000325812.2	+	3	542	c.123C>T	c.(121-123)tgC>tgT	p.C41C		NM_182560.2	NP_872366.2	Q52M58	CN177_HUMAN	chromosome 14 open reading frame 177	41										endometrium(1)|kidney(1)|large_intestine(1)|lung(10)	13		Melanoma(154;0.128)				AAGGGAAATGCCCAAGTTCTC	0.542													9	27					0	0	1	0	0	T	99182651	C	T	99182651	2	4	81	1	0	0	0	0	0	0	0	1	1766	747	26	2		2	C14orf177	14	99182651	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1840276	99182651	8166889	10740	14356											
BCL11B	64919	broad.mit.edu	37	14	99642372	99642372	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:99642372C>T	ENST00000345514.2	-	3	854	c.588G>A	c.(586-588)ccG>ccA	p.P196P	BCL11B_ENST00000357195.3_Silent_p.P267P|BCL11B_ENST00000443726.2_Silent_p.P73P	NM_001282238.1|NM_022898.1	NP_001269167.1|NP_075049.1	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B (zinc finger protein)	267						nucleus	zinc ion binding			NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		GCCCGAGCGGCGGCGGGATGG	0.711			T	TLX3	T-ALL								3	7					0	0	1	0	0	T	99642372	C	T	99642372	2	4	81	1	0	0	0	0	0	0	0	1	1362	755	27	1		1	BCL11B	14	99642372	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	459721	99642372	7707168	10741	14357											
SETD3	84193	broad.mit.edu	37	14	99865307	99865307	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:99865307C>T	ENST00000331768.5	-	13	1653	c.1494G>A	c.(1492-1494)ccG>ccA	p.P498P		NM_032233.2	NP_115609.2	Q86TU7	SETD3_HUMAN	SET domain containing 3	498					peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|peptidyl-lysine trimethylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone methyltransferase activity (H3-K36 specific)|transcription coactivator activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25		all_cancers(154;0.224)|all_epithelial(191;0.0644)|Melanoma(154;0.0866)				ATTTGGGAAGCGGAGCCTTTT	0.517													38	92					0	0	1	0	0	T	99865307	C	T	99865307	2	4	81	1	0	0	0	0	0	0	0	1	14186	755	27	1		1	SETD3	14	99865307	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	222935	99865307	7484233	10742	14358											
SETD3	84193	broad.mit.edu	37	14	99879293	99879293	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:99879293C>T	ENST00000331768.5	-	8	1003	c.844G>A	c.(844-846)Ggc>Agc	p.G282S	SETD3_ENST00000436070.2_Missense_Mutation_p.G282S|SETD3_ENST00000329331.3_Missense_Mutation_p.G282S	NM_032233.2	NP_115609.2	Q86TU7	SETD3_HUMAN	SET domain containing 3	282	SET.				peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|peptidyl-lysine trimethylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone methyltransferase activity (H3-K36 specific)|transcription coactivator activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25		all_cancers(154;0.224)|all_epithelial(191;0.0644)|Melanoma(154;0.0866)				GTTACCAGGCCGTTGGTGTGG	0.517													24	42					0	0	1	0	0	T	99879293	C	T	99879293	3	4	81	1	0	0	0	0	1	0	0	0	14186	652	23	1	1010	1	SETD3	14	99879293	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	13986	99879293	7470247	10743	14359											
SETD3	84193	broad.mit.edu	37	14	99927652	99927652	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:99927652T>G	ENST00000331768.5	-	4	381	c.222A>C	c.(220-222)aaA>aaC	p.K74N	SETD3_ENST00000453938.1_Intron|SETD3_ENST00000436070.2_Missense_Mutation_p.K74N|SETD3_ENST00000329331.3_Missense_Mutation_p.K74N	NM_032233.2	NP_115609.2	Q86TU7	SETD3_HUMAN	SET domain containing 3	74					peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|peptidyl-lysine trimethylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone methyltransferase activity (H3-K36 specific)|transcription coactivator activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25		all_cancers(154;0.224)|all_epithelial(191;0.0644)|Melanoma(154;0.0866)				AATCTTCTCTTTTTCCATCAA	0.373													44	67					0	0	1	0	0	G	99927652	T	G	99927652	3	3	81	1	0	0	0	0	1	0	0	0	14186	1838	64	5	1648	5	SETD3	14	99927652	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	48359	99927652	7421888	10744	14360											
CYP46A1	10858	broad.mit.edu	37	14	100166439	100166439	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:100166439G>A	ENST00000261835.3	+	5	547		c.e5+1		CYP46A1_ENST00000423126.2_Splice_Site	NM_006668.1	NP_006659.1	Q9Y6A2	CP46A_HUMAN	cytochrome P450, family 46, subfamily A, polypeptide 1						bile acid biosynthetic process|cholesterol catabolic process|nervous system development|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol 24-hydroxylase activity|electron carrier activity|heme binding|steroid hydroxylase activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)	25		Melanoma(154;0.0866)|all_epithelial(191;0.179)				TCAGCCGGAGGTGAGTGTGGC	0.632													8	21					0	0	1	0	0	A	100166439	G	A	100166439	5	1	81	1	0	0	0	0	0	0	1	0	4205	1275	44	2	462	2	CYP46A1	14	100166439	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	238787	100166439	7183101	10745	14361											
EML1	2009	broad.mit.edu	37	14	100357548	100357548	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:100357548G>A	ENST00000262233.6	+	5	670	c.531G>A	c.(529-531)gaG>gaA	p.E177E	EML1_ENST00000334192.4_Silent_p.E196E|EML1_ENST00000327921.9_Silent_p.E165E	NM_004434.2	NP_004425.2	O00423	EMAL1_HUMAN	echinoderm microtubule associated protein like 1	177						cytoplasm|microtubule|microtubule associated complex	calcium ion binding|protein binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Melanoma(154;0.0879)|all_epithelial(191;0.216)				AACCCAAGGAGCCTGTATTCA	0.443													50	68					0	0	1	0	0	A	100357548	G	A	100357548	2	1	81	1	0	0	0	0	0	0	0	1	5124	962	34	2		2	EML1	14	100357548	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	191109	100357548	6991992	10746	14362											
EML1	2009	broad.mit.edu	37	14	100363487	100363487	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:100363487G>A	ENST00000262233.6	+	7	822	c.683G>A	c.(682-684)gGg>gAg	p.G228E	EML1_ENST00000334192.4_Missense_Mutation_p.G247E|EML1_ENST00000327921.9_Missense_Mutation_p.G216E	NM_004434.2	NP_004425.2	O00423	EMAL1_HUMAN	echinoderm microtubule associated protein like 1	228						cytoplasm|microtubule|microtubule associated complex	calcium ion binding|protein binding	p.G247V(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Melanoma(154;0.0879)|all_epithelial(191;0.216)				CAAAGCTATGGGTACAGGGGT	0.443													17	22					0	0	1	0	0	A	100363487	G	A	100363487	3	1	81	1	0	0	0	0	1	0	0	0	5124	1232	43	2	770	2	EML1	14	100363487	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	5939	100363487	6986053	10747	14363											
DEGS2	123099	broad.mit.edu	37	14	100615992	100615992	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:100615992C>T	ENST00000305631.5	-	2	713	c.138G>A	c.(136-138)gcG>gcA	p.A46A	DEGS2_ENST00000553834.1_Intron|DEGS2_ENST00000557117.1_5'UTR	NM_206918.2	NP_996801.2	Q6QHC5	DEGS2_HUMAN	delta(4)-desaturase, sphingolipid 2	46					fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	sphingosine hydroxylase activity			breast(1)|lung(6)|skin(1)	8		Melanoma(154;0.212)				GCACCAGCACCGCCCACTTGA	0.692													12	11					0	0	1	0	0	T	100615992	C	T	100615992	2	4	81	1	0	0	0	0	0	0	0	1	4451	639	23	1		1	DEGS2	14	100615992	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	252505	100615992	6733548	10748	14364											
DEGS2	123099	broad.mit.edu	37	14	100616003	100616003	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:100616003G>T	ENST00000305631.5	-	2	702	c.127C>A	c.(127-129)Ctc>Atc	p.L43I	DEGS2_ENST00000553834.1_Intron|DEGS2_ENST00000557117.1_5'UTR	NM_206918.2	NP_996801.2	Q6QHC5	DEGS2_HUMAN	delta(4)-desaturase, sphingolipid 2	43					fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	sphingosine hydroxylase activity			breast(1)|lung(6)|skin(1)	8		Melanoma(154;0.212)				GCCCACTTGAGGCGCGGGTCT	0.697													5	17					0.000602214	0.000646338	1	1	0	T	100616003	G	T	100616003	3	4	81	1	0	0	0	0	1	0	0	0	4451	1000	35	4	852	4	DEGS2	14	100616003	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	11	100616003	6733537	10749	14365											
SLC25A29	123096	broad.mit.edu	37	14	100759259	100759259	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:100759259C>T	ENST00000392908.3	-	3	437	c.229G>A	c.(229-231)Gcc>Acc	p.A77T	RP11-638I2.6_ENST00000556458.1_lincRNA|SLC25A29_ENST00000556505.1_Silent_p.S25S|SLC25A29_ENST00000359232.3_Silent_p.S91S|SLC25A29_ENST00000555927.1_Silent_p.S25S|SLC25A29_ENST00000554912.1_Silent_p.S25S|SLC25A29_ENST00000539621.1_Silent_p.S25S			Q8N8R3	MCATL_HUMAN	solute carrier family 25 (mitochondrial carnitine/acylcarnitine carrier), member 29	291						integral to membrane|mitochondrial inner membrane	binding			NS(1)|endometrium(1)|ovary(1)	3		Melanoma(154;0.152)			L-Carnitine(DB00583)	GGTTGAGGGGCGAGTCGTGGC	0.692													4	4					0	0	1	0	0	T	100759259	C	T	100759259	3	4	81	1	0	0	0	0	1	0	0	0	14547	755	27	1	642	1	SLC25A29	14	100759259	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	143256	100759259	6590281	10750	14366											
WARS	7453	broad.mit.edu	37	14	100801232	100801232	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:100801232G>A	ENST00000355338.2	-	11	2014	c.1396C>T	c.(1396-1398)Ctg>Ttg	p.L466L	WARS_ENST00000344102.5_Silent_p.L425L|WARS_ENST00000556645.1_Silent_p.L425L|WARS_ENST00000358655.4_Silent_p.L425L|WARS_ENST00000392882.2_Silent_p.L466L|WARS_ENST00000557135.1_Silent_p.L466L|RP11-638I2.8_ENST00000557226.1_RNA	NM_173701.1	NP_776049.1	P23381	SYWC_HUMAN	tryptophanyl-tRNA synthetase	466					angiogenesis|negative regulation of cell proliferation|regulation of angiogenesis|tryptophanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|protein binding|tryptophan-tRNA ligase activity			breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	20		all_cancers(154;0.00223)|all_lung(585;2.48e-06)|all_epithelial(191;0.000564)|Melanoma(154;0.152)			L-Tryptophan(DB00150)	TCGAAGGACAGCTTCCGGGGA	0.493													20	43					0	0	1	0	0	A	100801232	G	A	100801232	2	1	81	1	0	0	0	0	0	0	0	1	17309	962	34	2		2	WARS	14	100801232	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	41973	100801232	6548308	10751	14367											
BEGAIN	57596	broad.mit.edu	37	14	101005175	101005175	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:101005175C>T	ENST00000556751.1	-	5	4125	c.721G>A	c.(721-723)Gcc>Acc	p.A241T	BEGAIN_ENST00000355173.2_Missense_Mutation_p.A305T|BEGAIN_ENST00000443071.2_Missense_Mutation_p.A305T			Q9BUH8	BEGIN_HUMAN	brain-enriched guanylate kinase-associated	305						cytoplasm|membrane	protein binding			cervix(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|stomach(1)	14		Melanoma(154;0.212)				TCCGACGTGGCGCTGAAGCTG	0.692													4	5					0	0	1	0	0	T	101005175	C	T	101005175	3	4	81	1	0	0	0	0	1	0	0	0	1395	768	27	1	872	1	BEGAIN	14	101005175	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	203943	101005175	6344365	10752	14368											
DLK1	8788	broad.mit.edu	37	14	101200826	101200826	+	Missense_Mutation	SNP	G	G	A	rs138651182		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:101200826G>A	ENST00000341267.4	+	5	987	c.745G>A	c.(745-747)Gcg>Acg	p.A249T	DLK1_ENST00000331224.6_Intron	NM_003836.5	NP_003827	P80370	DLK1_HUMAN	delta-like 1 homolog (Drosophila)	249					multicellular organismal development	extracellular space|integral to membrane|soluble fraction				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(16)|ovary(2)|prostate(1)|skin(1)	29		Melanoma(154;0.155)				CAAGAAGCGCGCGCTGAGCCC	0.682													6	55					0	0	1	0	0	A	101200826	G	A	101200826	3	1	81	1	0	0	0	0	1	0	0	0	4592	1087	38	1	763	1	DLK1	14	101200826	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	195651	101200826	6148714	10753	14369											
RTL1	388015	broad.mit.edu	37	14	101350844	101350844	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:101350844G>A	ENST00000534062.1	-	1	340	c.282C>T	c.(280-282)gaC>gaT	p.D94D	MIR432_ENST00000606207.1_RNA	NM_001134888.2	NP_001128360.1	E9PKS8	E9PKS8_HUMAN	retrotransposon-like 1	94										breast(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(5)|pancreas(1)|prostate(2)|skin(2)	21						CTTGGAGTAGGTCATTGGGTG	0.537													14	33					0	0	1	0	0	A	101350844	G	A	101350844	2	1	81	1	0	0	0	0	0	0	0	1	13776	1252	44	2		2	RTL1	14	101350844	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	150018	101350844	5998696	10754	14370											
DYNC1H1	1778	broad.mit.edu	37	14	102474581	102474581	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:102474581C>T	ENST00000360184.4	+	29	6048	c.5884C>T	c.(5884-5886)Cgc>Tgc	p.R1962C		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	1962	AAA 1 (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						CGAGTTCAACCGCCTGGAGGA	0.572													16	36					0	0	1	0	0	T	102474581	C	T	102474581	3	4	81	1	0	0	0	0	1	0	0	0	4867	652	23	1	5998	1	DYNC1H1	14	102474581	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1123737	102474581	4874959	10755	14371											
DYNC1H1	1778	broad.mit.edu	37	14	102477134	102477134	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:102477134C>T	ENST00000360184.4	+	32	6627	c.6463C>T	c.(6463-6465)Ccg>Tcg	p.P2155S		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	2155					cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						AGAGGACATCCCGCTGCTCTT	0.582													17	41					0	0	1	0	0	T	102477134	C	T	102477134	3	4	81	1	0	0	0	0	1	0	0	0	4867	623	22	2	6589	2	DYNC1H1	14	102477134	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2553	102477134	4872406	10756	14372											
DYNC1H1	1778	broad.mit.edu	37	14	102478325	102478325	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:102478325C>T	ENST00000360184.4	+	33	6896	c.6732C>T	c.(6730-6732)ctC>ctT	p.L2244L		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	2244	AAA 2 (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						TGGAGAGACTCGAGGGTGTGG	0.577													13	19					0	0	1	0	0	T	102478325	C	T	102478325	2	4	81	1	0	0	0	0	0	0	0	1	4867	871	31	1		1	DYNC1H1	14	102478325	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1191	102478325	4871215	10757	14373											
DYNC1H1	1778	broad.mit.edu	37	14	102498707	102498707	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:102498707C>A	ENST00000360184.4	+	52	10146	c.9982C>A	c.(9982-9984)Ctg>Atg	p.L3328M		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	3328	Stalk (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						CTGCCTGCTGCTGGGGGAAAG	0.577													48	51					1.23713e-20	1.61702e-20	1	1	0	A	102498707	C	A	102498707	3	1	81	1	0	0	0	0	1	0	0	0	4867	796	28	4	10188	4	DYNC1H1	14	102498707	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	20382	102498707	4850833	10758	14374											
HSP90AA1	3320	broad.mit.edu	37	14	102552103	102552103	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:102552103G>A	ENST00000334701.7	-	4	1168	c.887C>T	c.(886-888)aCa>aTa	p.T296I	HSP90AA1_ENST00000216281.8_Missense_Mutation_p.T174I|HSP90AA1_ENST00000441629.2_Intron	NM_001017963.2	NP_001017963.2	P07900	HS90A_HUMAN	heat shock protein 90kDa alpha (cytosolic), class A member 1	174					axon guidance|cellular chaperone-mediated protein complex assembly|G2/M transition of mitotic cell cycle|nitric oxide metabolic process|positive regulation of nitric oxide biosynthetic process|protein import into mitochondrial outer membrane|protein refolding|regulation of nitric-oxide synthase activity|response to unfolded protein|signal transduction	cytosol|melanosome|plasma membrane	ATP binding|ATPase activity|nitric-oxide synthase regulator activity|protein homodimerization activity|TPR domain binding|unfolded protein binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(6)|large_intestine(3)|liver(1)|lung(10)|ovary(2)|prostate(1)	28					Rifabutin(DB00615)	ACCTGTGTCTGTCCTCACTGT	0.522													5	66					0	0	1	0	0	A	102552103	G	A	102552103	3	1	81	1	0	0	0	0	1	0	0	0	7444	1377	48	2	1713	2	HSP90AA1	14	102552103	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	53396	102552103	4797437	10759	14375											
HSP90AA1	3320	broad.mit.edu	37	14	102552240	102552240	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:102552240G>T	ENST00000334701.7	-	4	1031	c.750C>A	c.(748-750)atC>atA	p.I250I	HSP90AA1_ENST00000216281.8_Silent_p.I128I|HSP90AA1_ENST00000441629.2_Intron	NM_001017963.2	NP_001017963.2	P07900	HS90A_HUMAN	heat shock protein 90kDa alpha (cytosolic), class A member 1	128					axon guidance|cellular chaperone-mediated protein complex assembly|G2/M transition of mitotic cell cycle|nitric oxide metabolic process|positive regulation of nitric oxide biosynthetic process|protein import into mitochondrial outer membrane|protein refolding|regulation of nitric-oxide synthase activity|response to unfolded protein|signal transduction	cytosol|melanosome|plasma membrane	ATP binding|ATPase activity|nitric-oxide synthase regulator activity|protein homodimerization activity|TPR domain binding|unfolded protein binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(6)|large_intestine(3)|liver(1)|lung(10)|ovary(2)|prostate(1)	28					Rifabutin(DB00615)	CAATCATAGAGATATCTGCAC	0.438													10	71					3.07112e-06	3.5041e-06	1	1	0	T	102552240	G	T	102552240	2	4	81	1	0	0	0	0	0	0	0	1	7444	932	33	4		4	HSP90AA1	14	102552240	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	137	102552240	4797300	10760	14376											
ZNF839	55778	broad.mit.edu	37	14	102805268	102805268	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:102805268G>A	ENST00000262236.5	+	6	1782	c.1427G>A	c.(1426-1428)aGc>aAc	p.S476N	ZNF839_ENST00000442396.2_Missense_Mutation_p.S592N|ZNF839_ENST00000558850.1_Missense_Mutation_p.S476N|ZNF839_ENST00000559185.1_Missense_Mutation_p.S476N|ZNF839_ENST00000420933.2_3'UTR	NM_018335.4	NP_060805.3	A8K0R7	ZN839_HUMAN	zinc finger protein 839	476						intracellular	zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						GAGGGAGCTAGCAGCGAGAAG	0.547													3	29					0	0	1	0	0	A	102805268	G	A	102805268	3	1	81	1	0	0	0	0	1	0	0	0	18235	971	34	2	1797	2	ZNF839	14	102805268	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	253028	102805268	4544272	10761	14377											
TECPR2	9895	broad.mit.edu	37	14	102881081	102881081	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:102881081T>C	ENST00000359520.7	+	5	815	c.589T>C	c.(589-591)Tac>Cac	p.Y197H	TECPR2_ENST00000558678.1_Missense_Mutation_p.Y197H|TECPR2_ENST00000561228.1_3'UTR	NM_014844.3	NP_055659.2	O15040	TCPR2_HUMAN	tectonin beta-propeller repeat containing 2	197							protein binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	50						TCTGCTCTTTTACACTGAAGA	0.453													46	77					0	0	1	0	0	C	102881081	T	C	102881081	3	2	81	1	0	0	0	0	1	0	0	0	15803	1754	61	3	603	3	TECPR2	14	102881081	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	75813	102881081	4468459	10762	14378											
TECPR2	9895	broad.mit.edu	37	14	102894699	102894699	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:102894699C>A	ENST00000359520.7	+	7	1290	c.1064C>A	c.(1063-1065)cCt>cAt	p.P355H	TECPR2_ENST00000558678.1_Missense_Mutation_p.P355H	NM_014844.3	NP_055659.2	O15040	TCPR2_HUMAN	tectonin beta-propeller repeat containing 2	355							protein binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	50						TCAAGCAGGCCTGAAGGATTA	0.328													7	66					2.0095e-06	2.30238e-06	1	1	0	A	102894699	C	A	102894699	3	1	81	1	0	0	0	0	1	0	0	0	15803	681	24	4	1086	4	TECPR2	14	102894699	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	13618	102894699	4454841	10763	14379											
RCOR1	23186	broad.mit.edu	37	14	103174910	103174910	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:103174910C>T	ENST00000262241.6	+	6	995	c.769C>T	c.(769-771)Cgg>Tgg	p.R257W	RCOR1_ENST00000570597.1_Missense_Mutation_p.R254W	NM_015156.3	NP_055971.2	Q9UKL0	RCOR1_HUMAN	REST corepressor 1	254					blood coagulation|histone H4 deacetylation|interspecies interaction between organisms	transcriptional repressor complex	protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription regulatory region DNA binding			NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	12						AAAACGGGAGCGGGAGGAGAG	0.468													59	87					0	0	1	0	0	T	103174910	C	T	103174910	3	4	81	1	0	0	0	0	1	0	0	0	13234	759	27	1	782	1	RCOR1	14	103174910	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	280211	103174910	4174630	10764	14380											
TRAF3	7187	broad.mit.edu	37	14	103336624	103336624	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:103336624C>T	ENST00000560371.1	+	2	303	c.86C>T	c.(85-87)aCg>aTg	p.T29M	TRAF3_ENST00000392745.2_Missense_Mutation_p.T29M|TRAF3_ENST00000539721.1_Missense_Mutation_p.T29M|TRAF3_ENST00000347662.4_Missense_Mutation_p.T29M|TRAF3_ENST00000351691.5_Missense_Mutation_p.T29M	NM_003300.3|NM_145725.2	NP_003291.2|NP_663777.1	Q13114	TRAF3_HUMAN	TNF receptor-associated factor 3	29					apoptosis|induction of apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|regulation of defense response to virus|regulation of interferon-beta production|regulation of proteolysis|toll-like receptor signaling pathway|tumor necrosis factor-mediated signaling pathway	CD40 receptor complex|cytosol|endosome|internal side of plasma membrane|mitochondrion	signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding	p.T29M(1)		breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|liver(2)|lung(7)|ovary(1)|prostate(2)	30		all_cancers(154;7.87e-06)|all_epithelial(191;0.0024)		Epithelial(152;9.92e-24)|all cancers(159;2.23e-21)|OV - Ovarian serous cystadenocarcinoma(161;7.85e-12)|Colorectal(3;0.0971)		AGTGCTGGGACGCCAGTTTTT	0.527													17	26					0	0	1	0	0	T	103336624	C	T	103336624	3	4	81	1	0	0	0	0	1	0	0	0	16500	536	19	1	88	1	TRAF3	14	103336624	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	161714	103336624	4012916	10765	14381											
CDC42BPB	9578	broad.mit.edu	37	14	103406241	103406241	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:103406241C>T	ENST00000361246.2	-	33	4923	c.4635G>A	c.(4633-4635)aaG>aaA	p.K1545K		NM_006035.3	NP_006026.3	Q9Y5S2	MRCKB_HUMAN	CDC42 binding protein kinase beta (DMPK-like)	1545					actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		GCAGCATCTGCTTCTTGCTGT	0.652													8	163					0	0	1	0	0	T	103406241	C	T	103406241	2	4	81	1	0	0	0	0	0	0	0	1	3095	796	28	2		2	CDC42BPB	14	103406241	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	69617	103406241	3943299	10766	14382											
CDC42BPB	9578	broad.mit.edu	37	14	103410310	103410310	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:103410310G>A	ENST00000361246.2	-	30	4614	c.4326C>T	c.(4324-4326)agC>agT	p.S1442S		NM_006035.3	NP_006026.3	Q9Y5S2	MRCKB_HUMAN	CDC42 binding protein kinase beta (DMPK-like)	1442	CNH.				actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		GTCCCATGTGGCTGAAGCAAA	0.562													15	23					0	0	1	0	0	A	103410310	G	A	103410310	2	1	81	1	0	0	0	0	0	0	0	1	3095	1194	42	2		2	CDC42BPB	14	103410310	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	4069	103410310	3939230	10767	14383											
CDC42BPB	9578	broad.mit.edu	37	14	103410669	103410669	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:103410669G>A	ENST00000361246.2	-	30	4255	c.3967C>T	c.(3967-3969)Ccg>Tcg	p.P1323S		NM_006035.3	NP_006026.3	Q9Y5S2	MRCKB_HUMAN	CDC42 binding protein kinase beta (DMPK-like)	1323	CNH.				actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		TTGGTTTCCGGAAGCTTGATG	0.562													17	14					0	0	1	0	0	A	103410669	G	A	103410669	3	1	81	1	0	0	0	0	1	0	0	0	3095	1174	41	2	1200	2	CDC42BPB	14	103410669	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	359	103410669	3938871	10768	14384											
CDC42BPB	9578	broad.mit.edu	37	14	103418839	103418839	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:103418839G>A	ENST00000361246.2	-	24	3456	c.3168C>T	c.(3166-3168)tgC>tgT	p.C1056C		NM_006035.3	NP_006026.3	Q9Y5S2	MRCKB_HUMAN	CDC42 binding protein kinase beta (DMPK-like)	1056					actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		ACTCACCCTCGCAGGCGTAGC	0.632													7	10					0	0	1	0	0	A	103418839	G	A	103418839	2	1	81	1	0	0	0	0	0	0	0	1	3095	1079	38	1		1	CDC42BPB	14	103418839	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	8170	103418839	3930701	10769	14385											
CDC42BPB	9578	broad.mit.edu	37	14	103434650	103434650	+	Silent	SNP	G	G	A	rs144299645		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:103434650G>A	ENST00000361246.2	-	16	2574	c.2286C>T	c.(2284-2286)taC>taT	p.Y762Y		NM_006035.3	NP_006026.3	Q9Y5S2	MRCKB_HUMAN	CDC42 binding protein kinase beta (DMPK-like)	762					actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		TTTCTCGTTCGTATTTATCTT	0.388													47	83					0	0	1	0	0	A	103434650	G	A	103434650	2	1	81	1	0	0	0	0	0	0	0	1	3095	1140	40	1		1	CDC42BPB	14	103434650	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	15811	103434650	3914890	10770	14386											
CDC42BPB	9578	broad.mit.edu	37	14	103442282	103442282	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:103442282G>A	ENST00000361246.2	-	10	1613	c.1325C>T	c.(1324-1326)gCt>gTt	p.A442V		NM_006035.3	NP_006026.3	Q9Y5S2	MRCKB_HUMAN	CDC42 binding protein kinase beta (DMPK-like)	442					actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		CCTCTCGTAAGCTTCCATCTG	0.592													32	41					0	0	1	0	0	A	103442282	G	A	103442282	3	1	81	1	0	0	0	0	1	0	0	0	3095	971	34	2	3922	2	CDC42BPB	14	103442282	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	7632	103442282	3907258	10771	14387											
CDC42BPB	9578	broad.mit.edu	37	14	103452906	103452906	+	Missense_Mutation	SNP	G	G	T	rs62006862		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:103452906G>T	ENST00000361246.2	-	6	896	c.608C>A	c.(607-609)cCt>cAt	p.P203H		NM_006035.3	NP_006026.3	Q9Y5S2	MRCKB_HUMAN	CDC42 binding protein kinase beta (DMPK-like)	203	Protein kinase.				actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		GACATTGTCAGGTTTAATGTC	0.383													9	69					1.58986e-06	1.82794e-06	1	1	0	T	103452906	G	T	103452906	3	4	81	1	0	0	0	0	1	0	0	0	3095	1000	35	4	4655	4	CDC42BPB	14	103452906	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	10624	103452906	3896634	10772	14388											
CDC42BPB	9578	broad.mit.edu	37	14	103465943	103465943	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:103465943C>T	ENST00000361246.2	-	5	843	c.555G>A	c.(553-555)gtG>gtA	p.V185V		NM_006035.3	NP_006026.3	Q9Y5S2	MRCKB_HUMAN	CDC42 binding protein kinase beta (DMPK-like)	185	Protein kinase.				actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		CAATGGCCAGCACCATTTCAC	0.428													34	44					0	0	1	0	0	T	103465943	C	T	103465943	2	4	81	1	0	0	0	0	0	0	0	1	3095	697	25	2		2	CDC42BPB	14	103465943	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	13037	103465943	3883597	10773	14389											
TRMT61A	115708	broad.mit.edu	37	14	103996558	103996558	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:103996558G>A	ENST00000389749.4	+	2	350	c.243G>A	c.(241-243)ccG>ccA	p.P81P		NM_152307.2	NP_689520.2	Q96FX7	TRM61_HUMAN	tRNA methyltransferase 61 homolog A (S. cerevisiae)	81						nucleus	protein binding|tRNA (adenine-N1-)-methyltransferase activity			skin(1)	1						TGAACCTGCCGCACCGCACGC	0.632													29	56					0	0	1	0	0	A	103996558	G	A	103996558	2	1	81	1	0	0	0	0	0	0	0	1	16630	1074	38	1		1	TRMT61A	14	103996558	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	530615	103996558	3352982	10774	14390											
BAG5	9529	broad.mit.edu	37	14	104026381	104026381	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:104026381C>T	ENST00000445922.2	-	2	1367	c.1121G>A	c.(1120-1122)gGa>gAa	p.G374E	BAG5_ENST00000299204.4_Missense_Mutation_p.G374E|BAG5_ENST00000337322.4_Missense_Mutation_p.G415E|RP11-894P9.2_ENST00000556332.1_RNA	NM_004873.3	NP_004864.1	Q9UL15	BAG5_HUMAN	BCL2-associated athanogene 5	374	BAG 5.				apoptosis|negative regulation of protein refolding|negative regulation of ubiquitin-protein ligase activity|neuron death|protein folding|regulation of inclusion body assembly	inclusion body|perinuclear region of cytoplasm	chaperone binding|ubiquitin protein ligase binding			endometrium(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	24		Melanoma(154;0.155)	Epithelial(46;0.144)			AGACAAGTTTCCAAGGACGTT	0.468													41	70					0	0	1	0	0	T	104026381	C	T	104026381	3	4	81	1	0	0	0	0	1	0	0	0	1288	855	30	2	226	2	BAG5	14	104026381	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	29823	104026381	3323159	10775	14391											
ZFYVE21	79038	broad.mit.edu	37	14	104194142	104194142	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:104194142G>A	ENST00000216602.6	+	3	361	c.249G>A	c.(247-249)ccG>ccA	p.P83P	ZFYVE21_ENST00000311141.2_Silent_p.P83P	NM_001198953.1	NP_001185882.1	Q9BQ24	ZFY21_HUMAN	zinc finger, FYVE domain containing 21	83						cytoplasmic membrane-bounded vesicle|focal adhesion	metal ion binding			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(2)	8		Melanoma(154;0.226)		Epithelial(152;0.245)		AGAAGGTGCCGCTGCGGCGCA	0.662													16	26					0	0	1	0	0	A	104194142	G	A	104194142	2	1	81	1	0	0	0	0	0	0	0	1	17725	1074	38	1		1	ZFYVE21	14	104194142	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	167761	104194142	3155398	10776	14392											
PPP1R13B	23368	broad.mit.edu	37	14	104205229	104205229	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:104205229G>T	ENST00000202556.9	-	13	3006	c.2724C>A	c.(2722-2724)atC>atA	p.I908I	PPP1R13B_ENST00000555391.1_5'UTR|PPP1R13B_ENST00000423488.2_Silent_p.I327I	NM_015316.2	NP_056131.2	Q96KQ4	ASPP1_HUMAN	protein phosphatase 1, regulatory subunit 13B	908					apoptosis|induction of apoptosis|negative regulation of cell cycle	cytoplasm|nucleus|plasma membrane	protein binding			endometrium(6)|kidney(2)|large_intestine(7)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155)				TCACCTCATAGATGATCCTCT	0.647													51	84					1.38658e-30	1.84959e-30	1	1	0	T	104205229	G	T	104205229	2	4	81	1	0	0	0	0	0	0	0	1	12406	932	33	4		4	PPP1R13B	14	104205229	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	11087	104205229	3144311	10777	14393											
TDRD9	122402	broad.mit.edu	37	14	104460675	104460675	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:104460675G>A	ENST00000409874.4	+	10	1235	c.1187G>A	c.(1186-1188)gGt>gAt	p.G396D	TDRD9_ENST00000339063.5_Missense_Mutation_p.G396D	NM_153046.2	NP_694591.2	Q8NDG6	TDRD9_HUMAN	tudor domain containing 9	396	Helicase C-terminal.				cell differentiation|DNA methylation involved in gamete generation|fertilization|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	nucleus|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0768)				CTAGGTCTGGGTGAAATAAAT	0.338													9	143					0	0	1	0	0	A	104460675	G	A	104460675	3	1	81	1	0	0	0	0	1	0	0	0	15795	1261	44	2	1225	2	TDRD9	14	104460675	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	255446	104460675	2888865	10778	14394											
TDRD9	122402	broad.mit.edu	37	14	104492412	104492412	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:104492412C>A	ENST00000409874.4	+	27	3008	c.2960C>A	c.(2959-2961)tCt>tAt	p.S987Y	TDRD9_ENST00000339063.5_Missense_Mutation_p.S987Y	NM_153046.2	NP_694591.2	Q8NDG6	TDRD9_HUMAN	tudor domain containing 9	987	Tudor.				cell differentiation|DNA methylation involved in gamete generation|fertilization|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	nucleus|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0768)				GGCAATAAGTCTCATGTAGAT	0.393													16	40					2.4624e-09	2.97042e-09	1	1	0	A	104492412	C	A	104492412	3	1	81	1	0	0	0	0	1	0	0	0	15795	913	32	4	3066	4	TDRD9	14	104492412	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	31737	104492412	2857128	10779	14395											
ASPG	374569	broad.mit.edu	37	14	104570806	104570806	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:104570806G>T	ENST00000551177.1	+	8	1011	c.919G>T	c.(919-921)Gac>Tac	p.D307Y	ASPG_ENST00000455920.2_Missense_Mutation_p.D307Y|ASPG_ENST00000546892.2_Missense_Mutation_p.D307Y	NM_001080464.2	NP_001073933.2	Q86U10	LPP60_HUMAN	asparaginase homolog (S. cerevisiae)	307	Asparaginase.				lipid catabolic process		1-alkyl-2-acetylglycerophosphocholine esterase activity|asparaginase activity|lysophospholipase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	11						TGTGACCACAGACTATGCAGC	0.672													6	8					3.59834e-05	3.99423e-05	1	1	0	T	104570806	G	T	104570806	3	4	81	1	0	0	0	0	1	0	0	0	1051	942	33	4	949	4	ASPG	14	104570806	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	78394	104570806	2778734	10780	14396											
KIF26A	26153	broad.mit.edu	37	14	104639572	104639572	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:104639572C>T	ENST00000315264.7	+	7	1640	c.1262C>T	c.(1261-1263)gCg>gTg	p.A421V	KIF26A_ENST00000423312.2_Missense_Mutation_p.A560V			Q9ULI4	KI26A_HUMAN	kinesin family member 26A	560	Kinesin-motor.				blood coagulation|enteric nervous system development|microtubule-based movement|negative regulation of signal transduction|regulation of cell growth by extracellular stimulus	cytosol|microtubule	ATP binding|microtubule binding|microtubule motor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)		GTGTGTGGGGCGCAGGTGCGC	0.701													7	27					0	0	1	0	0	T	104639572	C	T	104639572	3	4	81	1	0	0	0	0	1	0	0	0	8336	768	27	1	1709	1	KIF26A	14	104639572	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	68766	104639572	2709968	10781	14397											
KIF26A	26153	broad.mit.edu	37	14	104643465	104643465	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:104643465G>T	ENST00000315264.7	+	11	4301	c.3923G>T	c.(3922-3924)aGc>aTc	p.S1308I	KIF26A_ENST00000423312.2_Missense_Mutation_p.S1447I			Q9ULI4	KI26A_HUMAN	kinesin family member 26A	1447					blood coagulation|enteric nervous system development|microtubule-based movement|negative regulation of signal transduction|regulation of cell growth by extracellular stimulus	cytosol|microtubule	ATP binding|microtubule binding|microtubule motor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)		CTGGCGCACAGCAGCAGCAAG	0.701													8	6					2.74318e-10	3.35469e-10	1	1	0	T	104643465	G	T	104643465	3	4	81	1	0	0	0	0	1	0	0	0	8336	971	34	4	4386	4	KIF26A	14	104643465	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	3893	104643465	2706075	10782	14398											
INF2	64423	broad.mit.edu	37	14	105179215	105179215	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:105179215G>A	ENST00000392634.4	+	18	2773	c.2661G>A	c.(2659-2661)gaG>gaA	p.E887E	INF2_ENST00000330634.7_Silent_p.E887E	NM_022489.3	NP_071934.3	Q27J81	INF2_HUMAN	inverted formin, FH2 and WH2 domain containing	887	FH2.				actin cytoskeleton organization	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm	actin binding|Rho GTPase binding			large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)		AGGCCATCGAGCAGAAGCAAC	0.647													14	27					0	0	1	0	0	A	105179215	G	A	105179215	2	1	81	1	0	0	0	0	0	0	0	1	7778	962	34	2		2	INF2	14	105179215	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	535750	105179215	2170325	10783	14399											
AKT1	207	broad.mit.edu	37	14	105241307	105241307	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:105241307C>T	ENST00000554581.1	-	6	2081	c.601G>A	c.(601-603)Gtc>Atc	p.V201I	AKT1_ENST00000402615.2_Missense_Mutation_p.V201I|AKT1_ENST00000544168.1_Missense_Mutation_p.V139I|AKT1_ENST00000407796.2_Missense_Mutation_p.V201I|AKT1_ENST00000554848.1_Missense_Mutation_p.V201I|AKT1_ENST00000555528.1_Missense_Mutation_p.V201I|AKT1_ENST00000349310.3_Missense_Mutation_p.V201I			P31749	AKT1_HUMAN	v-akt murine thymoma viral oncogene homolog 1	201	Protein kinase.				activation of pro-apoptotic gene products|activation-induced cell death of T cells|endocrine pancreas development|G-protein coupled receptor protein signaling pathway|glucose metabolic process|glycogen biosynthetic process|induction of apoptosis by intracellular signals|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|mRNA metabolic process|negative regulation of fatty acid beta-oxidation|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|nitric oxide biosynthetic process|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of blood vessel endothelial cell migration|positive regulation of cell growth|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of establishment of protein localization in plasma membrane|positive regulation of fat cell differentiation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|positive regulation of nitric oxide biosynthetic process|positive regulation of nitric-oxide synthase activity|positive regulation of peptidyl-serine phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|protein autophosphorylation|protein import into nucleus, translocation|regulation of neuron projection development|regulation of translation|response to fluid shear stress|response to heat|response to UV-A|T cell costimulation	cytosol|nucleoplasm|plasma membrane	enzyme binding|identical protein binding|nitric-oxide synthase regulator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|protein serine/threonine kinase activity			NS(3)|breast(97)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(7)|lung(10)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|thyroid(10)|urinary_tract(15)	176		all_cancers(154;3.77e-06)|all_lung(585;3.24e-07)|all_epithelial(191;3.45e-05)|all_neural(303;0.0459)|Melanoma(154;0.155)	all cancers(16;0.000486)|OV - Ovarian serous cystadenocarcinoma(23;0.00647)|Epithelial(46;0.0153)|GBM - Glioblastoma multiforme(11;0.116)	all cancers(159;0.0107)|OV - Ovarian serous cystadenocarcinoma(161;0.0132)|Epithelial(152;0.243)	Adenosine triphosphate(DB00171)|Arsenic trioxide(DB01169)	TTCTGCAGGACGCGGTTCTCG	0.677		1	Mis		"breast, colorectal, ovarian, NSCLC"								15	33					0	0	1	0	0	T	105241307	C	T	105241307	3	4	81	1	0	0	0	0	1	0	0	0	475	536	19	1	873	1	AKT1	14	105241307	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	62092	105241307	2108233	10784	14400											
AHNAK2	113146	broad.mit.edu	37	14	105409750	105409750	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:105409750G>A	ENST00000333244.5	-	7	12157	c.12038C>T	c.(12037-12039)gCc>gTc	p.A4013V	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4013						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GAGGTCAGTGGCCTTGAGGTC	0.662													71	83					0	0	1	0	0	A	105409750	G	A	105409750	3	1	81	1	0	0	0	0	1	0	0	0	412	1203	42	2	5353	2	AHNAK2	14	105409750	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	168443	105409750	1939790	10785	14401											
AHNAK2	113146	broad.mit.edu	37	14	105409831	105409831	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:105409831G>A	ENST00000333244.5	-	7	12076	c.11957C>T	c.(11956-11958)tCc>tTc	p.S3986F	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3986						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TGCCTCCATGGACTTGCCTGG	0.602													103	160					0	0	1	0	0	A	105409831	G	A	105409831	3	1	81	1	0	0	0	0	1	0	0	0	412	1174	41	2	5434	2	AHNAK2	14	105409831	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	81	105409831	1939709	10786	14402											
AHNAK2	113146	broad.mit.edu	37	14	105411294	105411294	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:105411294C>T	ENST00000333244.5	-	7	10613	c.10494G>A	c.(10492-10494)gtG>gtA	p.V3498V	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3498						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TCGGCGCAGACACATCCAGCG	0.617													58	123					0	0	1	0	0	T	105411294	C	T	105411294	2	4	81	1	0	0	0	0	0	0	0	1	412	465	17	2		2	AHNAK2	14	105411294	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1463	105411294	1938246	10787	14403											
AHNAK2	113146	broad.mit.edu	37	14	105411331	105411331	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:105411331G>A	ENST00000333244.5	-	7	10576	c.10457C>T	c.(10456-10458)tCg>tTg	p.S3486L	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3486						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GCCTGGGGCCGACACCCCGAA	0.627													84	132					0	0	1	0	0	A	105411331	G	A	105411331	3	1	81	1	0	0	0	0	1	0	0	0	412	1059	37	1	6934	1	AHNAK2	14	105411331	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	37	105411331	1938209	10788	14404											
AHNAK2	113146	broad.mit.edu	37	14	105416412	105416412	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:105416412G>A	ENST00000333244.5	-	7	5495	c.5376C>T	c.(5374-5376)gaC>gaT	p.D1792D	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1792						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GAGCCTCGACGTCCACCTCCA	0.632													85	113					0	0	1	0	0	A	105416412	G	A	105416412	2	1	81	1	0	0	0	0	0	0	0	1	412	1136	40	1		1	AHNAK2	14	105416412	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	5081	105416412	1933128	10789	14405											
AHNAK2	113146	broad.mit.edu	37	14	105416584	105416584	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:105416584G>A	ENST00000333244.5	-	7	5323	c.5204C>T	c.(5203-5205)gCc>gTc	p.A1735V	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1735						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TTTGAAGCCGGCTCCCTCGGG	0.632													67	95					0	0	1	0	0	A	105416584	G	A	105416584	3	1	81	1	0	0	0	0	1	0	0	0	412	1203	42	2	12187	2	AHNAK2	14	105416584	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	172	105416584	1932956	10790	14406											
AHNAK2	113146	broad.mit.edu	37	14	105416925	105416925	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:105416925C>T	ENST00000333244.5	-	7	4982	c.4863G>A	c.(4861-4863)ctG>ctA	p.L1621L	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1621						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CCATGCTGGACAGAGACATCT	0.617													6	168					0	0	1	0	0	T	105416925	C	T	105416925	2	4	81	1	0	0	0	0	0	0	0	1	412	465	17	2		2	AHNAK2	14	105416925	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	341	105416925	1932615	10791	14407											
AHNAK2	113146	broad.mit.edu	37	14	105419259	105419259	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:105419259G>A	ENST00000333244.5	-	7	2648	c.2529C>T	c.(2527-2529)ttC>ttT	p.F843F	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	843						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CCGACACCCCGAATGATGGCA	0.617													100	222					0	0	1	0	0	A	105419259	G	A	105419259	2	1	81	1	0	0	0	0	0	0	0	1	412	1049	37	1		1	AHNAK2	14	105419259	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2334	105419259	1930281	10792	14408											
AHNAK2	113146	broad.mit.edu	37	14	105420882	105420882	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:105420882G>A	ENST00000333244.5	-	7	1025	c.906C>T	c.(904-906)gcC>gcT	p.A302A		NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	302						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CCGTGAGCTGGGCCTCTGTGT	0.652													5	12					0	0	1	0	0	A	105420882	G	A	105420882	2	1	81	1	0	0	0	0	0	0	0	1	412	1219	43	2		2	AHNAK2	14	105420882	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1623	105420882	1928658	10793	14409											
GPR132	29933	broad.mit.edu	37	14	105517471	105517471	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:105517471C>T	ENST00000329797.3	-	4	1914	c.1003G>A	c.(1003-1005)Gtc>Atc	p.V335I	GPR132_ENST00000392585.2_Missense_Mutation_p.V326I|GPR132_ENST00000539291.2_Missense_Mutation_p.V335I	NM_001278694.1|NM_001278696.1|NM_013345.2	NP_001265623.1|NP_001265625.1|NP_037477.1	Q9UNW8	GP132_HUMAN	G protein-coupled receptor 132	335					response to stress	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	18		all_cancers(154;0.0953)|Melanoma(154;0.155)|all_epithelial(191;0.219)	OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227)	Epithelial(152;0.02)|all cancers(159;0.0419)|OV - Ovarian serous cystadenocarcinoma(161;0.0521)		AGCCTGGTGACGTCTGTCTTC	0.612													17	32					0	0	1	0	0	T	105517471	C	T	105517471	3	4	81	1	0	0	0	0	1	0	0	0	6682	536	19	1	143	1	GPR132	14	105517471	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	96589	105517471	1832069	10794	14410											
GPR132	29933	broad.mit.edu	37	14	105517744	105517744	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:105517744C>T	ENST00000329797.3	-	4	1641	c.730G>A	c.(730-732)Gcc>Acc	p.A244T	GPR132_ENST00000392585.2_Missense_Mutation_p.A235T|GPR132_ENST00000539291.2_Missense_Mutation_p.A244T	NM_001278694.1|NM_001278696.1|NM_013345.2	NP_001265623.1|NP_001265625.1|NP_037477.1	Q9UNW8	GP132_HUMAN	G protein-coupled receptor 132	244					response to stress	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	18		all_cancers(154;0.0953)|Melanoma(154;0.155)|all_epithelial(191;0.219)	OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227)	Epithelial(152;0.02)|all cancers(159;0.0419)|OV - Ovarian serous cystadenocarcinoma(161;0.0521)		ACCGCGATGGCCGAGTGCTTC	0.567													25	46					0	0	1	0	0	T	105517744	C	T	105517744	3	4	81	1	0	0	0	0	1	0	0	0	6682	739	26	2	416	2	GPR132	14	105517744	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	273	105517744	1831796	10795	14411											
JAG2	3714	broad.mit.edu	37	14	105609257	105609257	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:105609257C>T	ENST00000331782.3	-	26	3895	c.3492G>A	c.(3490-3492)gcG>gcA	p.A1164A	JAG2_ENST00000347004.2_Silent_p.A1126A	NM_002226.4	NP_002217.3	Q9Y219	JAG2_HUMAN	jagged 2	1164					auditory receptor cell fate commitment|cell communication|cell cycle|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation|spermatogenesis|thymic T cell selection	integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5)	22		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		gcccgggcagcgcctcgtccg	0.706													10	4					0	0	1	0	0	T	105609257	C	T	105609257	2	4	81	1	0	0	0	0	0	0	0	1	7979	755	27	1		1	JAG2	14	105609257	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	91513	105609257	1740283	10796	14412											
JAG2	3714	broad.mit.edu	37	14	105615643	105615643	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:105615643A>G	ENST00000331782.3	-	13	2020	c.1617T>C	c.(1615-1617)ctT>ctC	p.L539L	JAG2_ENST00000347004.2_Silent_p.L501L	NM_002226.4	NP_002217.3	Q9Y219	JAG2_HUMAN	jagged 2	539	EGF-like 9.				auditory receptor cell fate commitment|cell communication|cell cycle|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation|spermatogenesis|thymic T cell selection	integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5)	22		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		TTGGCTCACAAAGGTCGACAT	0.622													6	79					0	0	1	0	0	G	105615643	A	G	105615643	2	3	81	1	0	0	0	0	0	0	0	1	7979	1	1	3		3	JAG2	14	105615643	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	6386	105615643	1733897	10797	14413											
NUDT14	256281	broad.mit.edu	37	14	105643109	105643109	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:105643109C>A	ENST00000392568.2	-	4	284		c.e4-1		RP11-44N21.4_ENST00000548203.1_RNA	NM_177533.4	NP_803877.2	O95848	NUD14_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 14							cytoplasm	metal ion binding|protein binding|UDP-sugar diphosphatase activity			cervix(2)|endometrium(1)|lung(3)|ovary(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	14		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		GCATACACAGCTGCGTGGGAA	0.677										HNSCC(42;0.11)			7	45					2.0095e-06	2.30238e-06	1	1	0	A	105643109	C	A	105643109	5	1	81	1	0	0	0	0	0	0	1	0	10778	811	28	4	486	4	NUDT14	14	105643109	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	27466	105643109	1706431	10798	14414											
BRF1	2972	broad.mit.edu	37	14	105677540	105677540	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:105677540C>T	ENST00000546474.1	-	17	16874	c.1915G>A	c.(1915-1917)Gac>Aac	p.D639N	BRF1_ENST00000440513.3_Missense_Mutation_p.D546N|BRF1_ENST00000327359.3_Missense_Mutation_p.D524N|BRF1_ENST00000547530.1_Missense_Mutation_p.D165N|BRF1_ENST00000379932.4_Intron|BRF1_ENST00000551787.1_Intron|BRF1_ENST00000379937.2_Missense_Mutation_p.D612N|BRF1_ENST00000392557.4_Missense_Mutation_p.D435N|BRF1_ENST00000446501.2_Missense_Mutation_p.D401N	NM_001242787.1|NM_001519.3	NP_001229716.1|NP_001510.2	Q92994	TF3B_HUMAN	BRF1, RNA polymerase III transcription initiation factor 90 kDa subunit	639					positive regulation of transcription, DNA-dependent|rRNA transcription|transcription initiation from RNA polymerase III promoter|tRNA transcription	transcription factor TFIIIB complex	translation initiation factor activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	24		all_cancers(154;0.0231)|all_epithelial(191;0.0694)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00753)|all cancers(16;0.00925)|Epithelial(46;0.0221)	Epithelial(152;0.14)		GCCTCCTCGTCGGCGTGGTAT	0.682													24	18					0	0	1	0	0	T	105677540	C	T	105677540	3	4	81	1	0	0	0	0	1	0	0	0	1512	884	31	1	126	1	BRF1	14	105677540	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	34431	105677540	1672000	10799	14415											
MTA1	9112	broad.mit.edu	37	14	105930811	105930811	+	Silent	SNP	C	C	T	rs139203829		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:105930811C>T	ENST00000331320.7	+	14	1465	c.1251C>T	c.(1249-1251)tgC>tgT	p.C417C	MTA1_ENST00000405646.1_Silent_p.C400C|MTA1_ENST00000435036.2_5'UTR|MTA1_ENST00000406191.1_Silent_p.C417C	NM_001203258.1|NM_004689.3	NP_001190187.1|NP_004680.2	Q13330	MTA1_HUMAN	metastasis associated 1	417					signal transduction	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|stomach(1)	14		all_cancers(154;0.0293)|all_epithelial(191;0.128)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00897)|Epithelial(46;0.026)	Epithelial(152;0.19)		GTCGTCTCTGCGCATCTTGTT	0.483													34	34					0	0	1	0	0	T	105930811	C	T	105930811	2	4	81	1	0	0	0	0	0	0	0	1	9956	776	27	1		1	MTA1	14	105930811	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	253271	105930811	1418729	10800	14416											
CRIP1	1396	broad.mit.edu	37	14	105954546	105954546	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:105954546C>T	ENST00000330233.7	+	2	1027	c.84C>T	c.(82-84)tgC>tgT	p.C28C	CRIP1_ENST00000392531.3_Silent_p.C28C|CRIP1_ENST00000409393.2_Silent_p.C28C			P50238	CRIP1_HUMAN	cysteine-rich protein 1 (intestinal)	28	LIM zinc-binding.				cell proliferation	cytoplasm	zinc ion binding						Melanoma(154;0.226)	OV - Ovarian serous cystadenocarcinoma(23;0.00596)|Epithelial(46;0.0188)	Epithelial(152;0.235)		ATCGGCCCTGCCTGAAGTGCG	0.687													6	57					0	0	1	0	0	T	105954546	C	T	105954546	2	4	81	1	0	0	0	0	0	0	0	1	3897	747	26	2		2	CRIP1	14	105954546	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	23735	105954546	1394994	10801	14417											
OR4M2	390538	broad.mit.edu	37	15	22368619	22368619	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:22368619C>A	ENST00000332663.2	+	1	142	c.44C>A	c.(43-45)aCt>aAt	p.T15N	RP11-69H14.6_ENST00000558896.1_RNA	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M, member 2	15					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		TTTGTTCTCACTGGCCTATCC	0.338													69	97					6.72169e-28	8.9353e-28	1	1	0	A	22368619	C	A	22368619	3	1	81	1	0	0	0	0	1	0	0	0	11124	565	20	4	46	4	OR4M2	15	22368619	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08		22368619	80162773	10802	14418											
TUBGCP5	114791	broad.mit.edu	37	15	22848930	22848930	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:22848930G>A	ENST00000283645.4	+	10	1107	c.977G>A	c.(976-978)cGa>cAa	p.R326Q	TUBGCP5_ENST00000453949.2_Missense_Mutation_p.R326Q|TUBGCP5_ENST00000559846.1_3'UTR	NM_052903.4	NP_443135.3	Q96RT8	GCP5_HUMAN	tubulin, gamma complex associated protein 5	326					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			breast(5)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	46		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949)		GTTGTGTTTCGACTCCAGGAG	0.453													34	67					0	0	1	0	0	A	22848930	G	A	22848930	3	1	81	1	0	0	0	0	1	0	0	0	16831	1058	37	1	1015	1	TUBGCP5	15	22848930	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	480311	22848930	79682462	10803	14419											
CYFIP1	23191	broad.mit.edu	37	15	22940758	22940758	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:22940758T>C	ENST00000313077.7	+	11	1148	c.1023T>C	c.(1021-1023)ccT>ccC	p.P341P	CYFIP1_ENST00000560848.1_Silent_p.P341P	NM_014608.2	NP_055423.1	Q7L576	CYFP1_HUMAN	cytoplasmic FMR1 interacting protein 1	341					axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization	cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome	actin filament binding|Rac GTPase binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	40		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)		GCAGCAGCCCTCAGTACAACA	0.642													6	10					0	0	1	0	0	C	22940758	T	C	22940758	2	2	81	1	0	0	0	0	0	0	0	1	4160	1538	54	3		3	CYFIP1	15	22940758	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	91828	22940758	79590634	10804	14420											
CYFIP1	23191	broad.mit.edu	37	15	22958208	22958208	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:22958208C>T	ENST00000313077.7	+	17	1976	c.1851C>T	c.(1849-1851)gaC>gaT	p.D617D	CYFIP1_ENST00000435939.2_Silent_p.D186D|CYFIP1_ENST00000560848.1_Silent_p.D617D	NM_014608.2	NP_055423.1	Q7L576	CYFP1_HUMAN	cytoplasmic FMR1 interacting protein 1	617					axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization	cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome	actin filament binding|Rac GTPase binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	40		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)		AGTGCTGTGACCTTTCGCAGC	0.532													13	19					0	0	1	0	0	T	22958208	C	T	22958208	2	4	81	1	0	0	0	0	0	0	0	1	4160	506	18	2		2	CYFIP1	15	22958208	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	17450	22958208	79573184	10805	14421											
NIPA2	81614	broad.mit.edu	37	15	23006491	23006491	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:23006491C>T	ENST00000337451.3	-	8	1425	c.813G>A	c.(811-813)tgG>tgA	p.W271*	NIPA2_ENST00000398013.3_Nonsense_Mutation_p.W271*|NIPA2_ENST00000398014.2_Nonsense_Mutation_p.W271*|NIPA2_ENST00000539711.2_Nonsense_Mutation_p.W252*|NIPA2_ENST00000359727.4_Nonsense_Mutation_p.W252*	NM_030922.6	NP_112184.4	Q8N8Q9	NIPA2_HUMAN	non imprinted in Prader-Willi/Angelman syndrome 2	271						early endosome|integral to membrane|plasma membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|prostate(4)|skin(1)	15		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;1.48e-06)|Epithelial(43;1.44e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000353)		GCATATCTTGCCACTCCTTAA	0.373													39	69					0	0	1	0	0	T	23006491	C	T	23006491	4	4	81	1	0	0	0	0	0	1	0	0	10470	740	26	2	273	2	NIPA2	15	23006491	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	48283	23006491	79524901	10806	14422											
NIPA1	123606	broad.mit.edu	37	15	23049092	23049092	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:23049092C>T	ENST00000437912.2	-	5	1799	c.502G>A	c.(502-504)Gtc>Atc	p.V168I	NIPA1_ENST00000538684.1_Missense_Mutation_p.V73I|NIPA1_ENST00000337435.4_Missense_Mutation_p.V243I|NIPA1_ENST00000561183.1_Missense_Mutation_p.V168I			Q7RTP0	NIPA1_HUMAN	non imprinted in Prader-Willi/Angelman syndrome 1	243					cell death	early endosome|integral to membrane|plasma membrane				endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|skin(1)	15		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;4.18e-06)|Epithelial(43;3.97e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00165)		CTGAACTGGACGATGATGCTG	0.607													14	26					0	0	1	0	0	T	23049092	C	T	23049092	3	4	81	1	0	0	0	0	1	0	0	0	10469	536	19	1	266	1	NIPA1	15	23049092	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	42601	23049092	79482300	10807	14423											
MKRN3	7681	broad.mit.edu	37	15	23811803	23811803	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:23811803G>T	ENST00000314520.3	+	1	1350	c.874G>T	c.(874-876)Gca>Tca	p.A292S	MKRN3_ENST00000568252.1_Intron|MKRN3_ENST00000568945.1_3'UTR|MKRN3_ENST00000564592.1_Intron	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	292	Makorin-type Cys-His.					ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		CTGCATTGAAGCACACGAGAA	0.522													19	20					1.67942e-08	2.00033e-08	1	1	0	T	23811803	G	T	23811803	3	4	81	1	0	0	0	0	1	0	0	0	9656	971	34	4	876	4	MKRN3	15	23811803	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	762711	23811803	78719589	10808	14424											
MKRN3	7681	broad.mit.edu	37	15	23812185	23812185	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:23812185A>C	ENST00000314520.3	+	1	1732	c.1256A>C	c.(1255-1257)aAg>aCg	p.K419T	MKRN3_ENST00000568252.1_Intron|MKRN3_ENST00000568945.1_Intron|MKRN3_ENST00000564592.1_Intron	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	419						ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		TGCTTTTACAAGCATGAATAC	0.522													4	62					0	0	1	0	0	C	23812185	A	C	23812185	3	2	81	1	0	0	0	0	1	0	0	0	9656	72	3	5	1258	5	MKRN3	15	23812185	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	382	23812185	78719207	10809	14425											
SNURF	8926	broad.mit.edu	37	15	25207266	25207266	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:25207266G>A	ENST00000338094.6	+	2	81	c.20G>A	c.(19-21)cGc>cAc	p.R7H	SNRPN_ENST00000346403.6_5'UTR|SNURF_ENST00000551312.2_Missense_Mutation_p.R7H|SNRPN_ENST00000400100.1_5'UTR|SNURF_ENST00000577949.1_Missense_Mutation_p.R7H|SNRPN_ENST00000554227.2_5'UTR|SNRPN_ENST00000400098.1_5'UTR|SNRPN_ENST00000577565.1_5'UTR|SNRPN_ENST00000553597.1_3'UTR|SNRPN_ENST00000390687.4_5'UTR|SNRPN_ENST00000400097.1_5'UTR|SNURF_ENST00000338327.4_Missense_Mutation_p.R7H	NM_003097.3|NM_005678.3	NP_003088.1|NP_005669.2			SNRPN upstream reading frame											breast(2)|large_intestine(2)|lung(1)	5		all_cancers(20;1.4e-21)|Breast(32;0.000625)		all cancers(64;3.48e-07)|Epithelial(43;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0142)		TTCAGGGATCGCTTACACCTG	0.408													23	34					0	0	1	0	0	A	25207266	G	A	25207266	3	1	81	1	0	0	0	0	1	0	0	0	14932	1087	38	1	26	1	SNURF	15	25207266	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1395081	25207266	77324126	10810	14426											
UBE3A	7337	broad.mit.edu	37	15	25601967	25601967	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:25601967A>G	ENST00000232165.3	-	8	2486	c.1830T>C	c.(1828-1830)acT>acC	p.T610T	UBE3A_ENST00000397954.2_Silent_p.T613T|UBE3A_ENST00000438097.1_Silent_p.T590T|UBE3A_ENST00000428984.2_Silent_p.T590T|UBE3A_ENST00000566215.1_Silent_p.T590T|SNHG14_ENST00000554726.1_RNA	NM_000462.3|NM_130839.2	NP_000453.2|NP_570854.1	Q05086	UBE3A_HUMAN	ubiquitin protein ligase E3A	613					brain development|interspecies interaction between organisms|protein K48-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	38		all_cancers(20;3.47e-21)|Breast(32;0.00123)		all cancers(64;2.78e-08)|Epithelial(43;8.85e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0155)|Lung(196;0.0616)		TGCCAATCAGAGTAAACTGAC	0.338													128	187					0	0	1	0	0	G	25601967	A	G	25601967	2	3	81	1	0	0	0	0	0	0	0	1	16940	291	11	3		3	UBE3A	15	25601967	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	394701	25601967	76929425	10811	14427											
UBE3A	7337	broad.mit.edu	37	15	25616697	25616697	+	Silent	SNP	G	G	T	rs112484472		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:25616697G>T	ENST00000232165.3	-	6	1280	c.624C>A	c.(622-624)tcC>tcA	p.S208S	UBE3A_ENST00000397954.2_Silent_p.S211S|UBE3A_ENST00000438097.1_Silent_p.S188S|UBE3A_ENST00000428984.2_Silent_p.S188S|UBE3A_ENST00000566215.1_Silent_p.S188S|SNHG14_ENST00000554726.1_RNA	NM_000462.3|NM_130839.2	NP_000453.2|NP_570854.1	Q05086	UBE3A_HUMAN	ubiquitin protein ligase E3A	211					brain development|interspecies interaction between organisms|protein K48-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	38		all_cancers(20;3.47e-21)|Breast(32;0.00123)		all cancers(64;2.78e-08)|Epithelial(43;8.85e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0155)|Lung(196;0.0616)		CTATCCTTGAGGAAGATGCTT	0.413													23	212					6.44725e-10	7.84582e-10	1	1	0	T	25616697	G	T	25616697	2	4	81	1	0	0	0	0	0	0	0	1	16940	987	35	4		4	UBE3A	15	25616697	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	14730	25616697	76914695	10812	14428											
ATP10A	57194	broad.mit.edu	37	15	25967018	25967018	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:25967018A>G	ENST00000356865.6	-	7	1260	c.1149T>C	c.(1147-1149)atT>atC	p.I383I		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	383					ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		ATGCTTTAACAATTTCAATGG	0.468													22	31					0	0	1	0	0	G	25967018	A	G	25967018	2	3	81	1	0	0	0	0	0	0	0	1	1115	126	5	3		3	ATP10A	15	25967018	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	350321	25967018	76564374	10813	14429											
GABRB3	2562	broad.mit.edu	37	15	26866633	26866633	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:26866633G>A	ENST00000541819.2	-	5	559	c.457C>T	c.(457-459)Ctc>Ttc	p.L153F	GABRB3_ENST00000311550.5_Missense_Mutation_p.L97F|GABRB3_ENST00000299267.4_Missense_Mutation_p.L97F|GABRB3_ENST00000545868.1_Missense_Mutation_p.L12F|GABRB3_ENST00000400188.3_Missense_Mutation_p.L26F			P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3	97					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	GAATAGGCGAGCCTTTTATCT	0.423													19	36					0	0	1	0	0	A	26866633	G	A	26866633	3	1	81	1	0	0	0	0	1	0	0	0	6203	971	34	2	1156	2	GABRB3	15	26866633	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	899615	26866633	75664759	10814	14430											
GABRA5	2558	broad.mit.edu	37	15	27193350	27193350	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:27193350G>A	ENST00000335625.5	+	11	2247	c.1359G>A	c.(1357-1359)ccG>ccA	p.P453P	GABRA5_ENST00000400081.3_Silent_p.P453P|GABRA5_ENST00000355395.5_Silent_p.P453P	NM_000810.3	NP_000801.1	P31644	GBRA5_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 5	453					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(1)|upper_aerodigestive_tract(1)	49		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	ATAGGGAGCCGGTGATAAAAG	0.468													9	10					0	0	1	0	0	A	27193350	G	A	27193350	2	1	81	1	0	0	0	0	0	0	0	1	6199	1103	39	1		1	GABRA5	15	27193350	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	326717	27193350	75338042	10815	14431											
OCA2	4948	broad.mit.edu	37	15	28202803	28202803	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:28202803C>T	ENST00000354638.3	-	16	1870	c.1715G>A	c.(1714-1716)cGc>cAc	p.R572H	OCA2_ENST00000382996.2_Missense_Mutation_p.R572H|OCA2_ENST00000353809.5_Missense_Mutation_p.R548H	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II	572					eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		CAGCAGGCGGCGCACAGCTGT	0.657									Oculocutaneous Albinism				22	23					0	0	1	0	0	T	28202803	C	T	28202803	3	4	81	1	0	0	0	0	1	0	0	0	10863	768	27	1	837	1	OCA2	15	28202803	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1009453	28202803	74328589	10816	14432											
OCA2	4948	broad.mit.edu	37	15	28230277	28230277	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:28230277C>T	ENST00000354638.3	-	13	1452	c.1297G>A	c.(1297-1299)Gcg>Acg	p.A433T	OCA2_ENST00000382996.2_Missense_Mutation_p.A433T|OCA2_ENST00000353809.5_Missense_Mutation_p.A409T	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II	433					eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		AGGACGGCCGCGATGAGACAG	0.597									Oculocutaneous Albinism				13	16					0	0	1	0	0	T	28230277	C	T	28230277	3	4	81	1	0	0	0	0	1	0	0	0	10863	768	27	1	1267	1	OCA2	15	28230277	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	27474	28230277	74301115	10817	14433											
OCA2	4948	broad.mit.edu	37	15	28273046	28273046	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:28273046C>T	ENST00000354638.3	-	4	641	c.486G>A	c.(484-486)ccG>ccA	p.P162P	OCA2_ENST00000382996.2_Silent_p.P162P|OCA2_ENST00000353809.5_Silent_p.P162P	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II	162					eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		GTCGGATGTGCGGGCTGTCCA	0.622									Oculocutaneous Albinism				15	36					0	0	1	0	0	T	28273046	C	T	28273046	2	4	81	1	0	0	0	0	0	0	0	1	10863	755	27	1		1	OCA2	15	28273046	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	42769	28273046	74258346	10818	14434											
HERC2	8924	broad.mit.edu	37	15	28369239	28369239	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:28369239G>A	ENST00000261609.7	-	85	13240	c.13132C>T	c.(13132-13134)Ctc>Ttc	p.L4378F		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	4378					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		GAAGGCCCGAGTCCAGTTTCG	0.562													17	30					0	0	1	0	0	A	28369239	G	A	28369239	3	1	81	1	0	0	0	0	1	0	0	0	7099	1029	36	2	1408	2	HERC2	15	28369239	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	96193	28369239	74162153	10819	14435											
HERC2	8924	broad.mit.edu	37	15	28389916	28389916	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:28389916G>A	ENST00000261609.7	-	72	11151	c.11043C>T	c.(11041-11043)cgC>cgT	p.R3681R		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	3681					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CCCCTGGGATGCGCAGCTCGC	0.572													13	22					0	0	1	0	0	A	28389916	G	A	28389916	2	1	81	1	0	0	0	0	0	0	0	1	7099	1306	46	2		2	HERC2	15	28389916	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	20677	28389916	74141476	10820	14436											
HERC2	8924	broad.mit.edu	37	15	28447534	28447534	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:28447534T>G	ENST00000261609.7	-	46	7547	c.7439A>C	c.(7438-7440)aAg>aCg	p.K2480T		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	2480					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		AGTGAGAGACTTCAGGGCAAA	0.562													12	12					0	0	1	0	0	G	28447534	T	G	28447534	3	3	81	1	0	0	0	0	1	0	0	0	7099	1609	56	5	7257	5	HERC2	15	28447534	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	57618	28447534	74083858	10821	14437											
HERC2	8924	broad.mit.edu	37	15	28463781	28463781	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:28463781G>A	ENST00000261609.7	-	38	5990	c.5882C>T	c.(5881-5883)gCa>gTa	p.A1961V		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	1961					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		AAACATCATTGCAGTGGGGTG	0.388													24	54					0	0	1	0	0	A	28463781	G	A	28463781	3	1	81	1	0	0	0	0	1	0	0	0	7099	1319	46	2	8846	2	HERC2	15	28463781	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	16247	28463781	74067611	10822	14438											
HERC2	8924	broad.mit.edu	37	15	28483336	28483336	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:28483336A>G	ENST00000261609.7	-	25	3884	c.3776T>C	c.(3775-3777)gTa>gCa	p.V1259A		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	1259	Cytochrome b5 heme-binding.				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		TTCCAAAGCTACCACTGGGTC	0.463													23	35					0	0	1	0	0	G	28483336	A	G	28483336	3	3	81	1	0	0	0	0	1	0	0	0	7099	391	14	3	11004	3	HERC2	15	28483336	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	19555	28483336	74048056	10823	14439											
APBA2	321	broad.mit.edu	37	15	29346645	29346645	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:29346645C>A	ENST00000558402.1	+	5	1157	c.558C>A	c.(556-558)taC>taA	p.Y186*	APBA2_ENST00000411764.1_Nonsense_Mutation_p.Y186*|APBA2_ENST00000558330.1_Nonsense_Mutation_p.Y186*|APBA2_ENST00000558259.1_Nonsense_Mutation_p.Y186*|APBA2_ENST00000561069.1_Nonsense_Mutation_p.Y186*			Q99767	APBA2_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 2	186	STXBP1-binding.			DEPSVLEAHDQEEDGHYCASKEGYQDYYPEEANGNTGASPY RLRR -> MSPPSLRPMTRKKMVTMCQQRGLPGLLPRGGQR EHRRLPLPPEA (in Ref. 1; AAC39767).	nervous system development|protein transport		protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		ATGGTCACTACTGTGCCAGCA	0.642													3	26					0.115264	0.117126	1	1	0	A	29346645	C	A	29346645	4	1	81	1	0	0	0	0	0	1	0	0	753	576	20	4	560	4	APBA2	15	29346645	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	863309	29346645	73184747	10824	14440											
APBA2	321	broad.mit.edu	37	15	29385292	29385292	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:29385292G>A	ENST00000558402.1	+	8	1683	c.1084G>A	c.(1084-1086)Gaa>Aaa	p.E362K	APBA2_ENST00000411764.1_Missense_Mutation_p.E362K|APBA2_ENST00000558330.1_Missense_Mutation_p.E362K|APBA2_ENST00000558259.1_Missense_Mutation_p.E362K|APBA2_ENST00000561069.1_Missense_Mutation_p.E362K			Q99767	APBA2_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 2	362					nervous system development|protein transport		protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		AGGGCCCTGCGAACCAGAAGA	0.522													20	37					0	0	1	0	0	A	29385292	G	A	29385292	3	1	81	1	0	0	0	0	1	0	0	0	753	1059	37	1	1098	1	APBA2	15	29385292	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	38647	29385292	73146100	10825	14441											
TJP1	7082	broad.mit.edu	37	15	30003154	30003154	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:30003154C>T	ENST00000346128.6	-	24	4727	c.4253G>A	c.(4252-4254)cGc>cAc	p.R1418H	TJP1_ENST00000545208.2_Missense_Mutation_p.R1338H|TJP1_ENST00000356107.6_Missense_Mutation_p.R1418H|TJP1_ENST00000400011.2_Missense_Mutation_p.R1342H	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN	tight junction protein 1	1418					cell-cell junction assembly|cellular component disassembly involved in apoptosis	basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		GGGTTCATAGCGTTTCTCGCC	0.507													56	91					0	0	1	0	0	T	30003154	C	T	30003154	3	4	81	1	0	0	0	0	1	0	0	0	15989	768	27	1	1013	1	TJP1	15	30003154	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	617862	30003154	72528238	10826	14442											
TJP1	7082	broad.mit.edu	37	15	30024971	30024971	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:30024971G>A	ENST00000346128.6	-	14	2259	c.1785C>T	c.(1783-1785)ggC>ggT	p.G595G	TJP1_ENST00000545208.2_Silent_p.G595G|TJP1_ENST00000356107.6_Silent_p.G595G|TJP1_ENST00000400011.2_Silent_p.G599G	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN	tight junction protein 1	595					cell-cell junction assembly|cellular component disassembly involved in apoptosis	basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		CACGGTCTCCGCCTGCTGTTT	0.438													16	30					0	0	1	0	0	A	30024971	G	A	30024971	2	1	81	1	0	0	0	0	0	0	0	1	15989	1074	38	1		1	TJP1	15	30024971	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	21817	30024971	72506421	10827	14443											
MTMR10	54893	broad.mit.edu	37	15	31239394	31239394	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:31239394C>T	ENST00000435680.1	-	14	1584	c.1487G>A	c.(1486-1488)cGg>cAg	p.R496Q	MTMR10_ENST00000425768.1_3'UTR|MTMR10_ENST00000563714.1_Missense_Mutation_p.R414Q|MTMR10_ENST00000314404.8_Missense_Mutation_p.R248Q	NM_017762.2	NP_060232.2	Q9NXD2	MTMRA_HUMAN	myotubularin related protein 10	496	Myotubularin phosphatase.						phosphatase activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1)	9		all_lung(180;2.81e-11)		all cancers(64;7.26e-15)|Epithelial(43;7.2e-11)|GBM - Glioblastoma multiforme(186;0.000158)|BRCA - Breast invasive adenocarcinoma(123;0.00426)|Lung(196;0.174)		CAGTGAGATCCGGGTGCTGTC	0.502													39	56					0	0	1	0	0	T	31239394	C	T	31239394	3	4	81	1	0	0	0	0	1	0	0	0	9987	652	23	1	858	1	MTMR10	15	31239394	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1214423	31239394	71291998	10828	14444											
TRPM1	4308	broad.mit.edu	37	15	31295069	31295069	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:31295069C>T	ENST00000542188.1	-	27	4198	c.3885G>A	c.(3883-3885)acG>acA	p.T1295T	TRPM1_ENST00000397795.2_Silent_p.T1256T|TRPM1_ENST00000256552.6_Silent_p.T1278T|RP11-348B17.1_ENST00000561299.1_RNA	NM_001252020.1	NP_001238949.1	Q7Z4N2	TRPM1_HUMAN	transient receptor potential cation channel, subfamily M, member 1	1256					cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		GGAGAAGATACGTTGCCTCAC	0.453													26	46					0	0	1	0	0	T	31295069	C	T	31295069	2	4	81	1	0	0	0	0	0	0	0	1	16646	523	19	1		1	TRPM1	15	31295069	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	55675	31295069	71236323	10829	14445											
TRPM1	4308	broad.mit.edu	37	15	31318475	31318475	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:31318475C>A	ENST00000542188.1	-	26	3861		c.e26-1		TRPM1_ENST00000397795.2_Splice_Site|RP11-348B17.1_ENST00000558755.1_RNA|TRPM1_ENST00000256552.6_Splice_Site|RP11-348B17.1_ENST00000561299.1_RNA	NM_001252020.1	NP_001238949.1	Q7Z4N2	TRPM1_HUMAN	transient receptor potential cation channel, subfamily M, member 1						cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		AGGAAGAGCTCTGTGTGAAGG	0.512													9	16					0.307466	0.308658	1	1	0	A	31318475	C	A	31318475	5	1	81	1	0	0	0	0	0	0	1	0	16646	927	32	4	1389	4	TRPM1	15	31318475	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	23406	31318475	71212917	10830	14446											
TRPM1	4308	broad.mit.edu	37	15	31323354	31323354	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:31323354C>T	ENST00000542188.1	-	22	3323	c.3010G>A	c.(3010-3012)Gac>Aac	p.D1004N	TRPM1_ENST00000397795.2_Missense_Mutation_p.D965N|RP11-348B17.1_ENST00000558755.1_RNA|TRPM1_ENST00000256552.6_Missense_Mutation_p.D987N|RP11-348B17.1_ENST00000561299.1_RNA	NM_001252020.1	NP_001238949.1	Q7Z4N2	TRPM1_HUMAN	transient receptor potential cation channel, subfamily M, member 1	965					cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		TACAGCATGTCGATCATCTGA	0.483													20	28					0	0	1	0	0	T	31323354	C	T	31323354	3	4	81	1	0	0	0	0	1	0	0	0	16646	884	31	1	1942	1	TRPM1	15	31323354	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	4879	31323354	71208038	10831	14447											
TRPM1	4308	broad.mit.edu	37	15	31334251	31334251	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:31334251C>T	ENST00000542188.1	-	16	2354	c.2041G>A	c.(2041-2043)Gcc>Acc	p.A681T	TRPM1_ENST00000397795.2_Missense_Mutation_p.A642T|TRPM1_ENST00000256552.6_Missense_Mutation_p.A664T|RP11-348B17.1_ENST00000561299.1_RNA	NM_001252020.1	NP_001238949.1	Q7Z4N2	TRPM1_HUMAN	transient receptor potential cation channel, subfamily M, member 1	642					cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		GCCACCAGGGCCTTGGCCATG	0.562													18	29					0	0	1	0	0	T	31334251	C	T	31334251	3	4	81	1	0	0	0	0	1	0	0	0	16646	739	26	2	2935	2	TRPM1	15	31334251	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	10897	31334251	71197141	10832	14448											
TRPM1	4308	broad.mit.edu	37	15	31355430	31355430	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:31355430C>T	ENST00000542188.1	-	7	1220	c.907G>A	c.(907-909)Gtc>Atc	p.V303I	TRPM1_ENST00000397795.2_Missense_Mutation_p.V264I|TRPM1_ENST00000256552.6_Missense_Mutation_p.V286I	NM_001252020.1	NP_001238949.1	Q7Z4N2	TRPM1_HUMAN	transient receptor potential cation channel, subfamily M, member 1	264					cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		TATTCCAAGACGATGGACACC	0.592													24	64					0	0	1	0	0	T	31355430	C	T	31355430	3	4	81	1	0	0	0	0	1	0	0	0	16646	536	19	1	4105	1	TRPM1	15	31355430	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	21179	31355430	71175962	10833	14449											
TRPM1	4308	broad.mit.edu	37	15	31362287	31362287	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:31362287C>A	ENST00000542188.1	-	3	590	c.277G>T	c.(277-279)Gat>Tat	p.D93Y	TRPM1_ENST00000397795.2_Missense_Mutation_p.D54Y|TRPM1_ENST00000559179.1_Missense_Mutation_p.D54Y|TRPM1_ENST00000256552.6_Missense_Mutation_p.D76Y	NM_001252020.1	NP_001238949.1	Q7Z4N2	TRPM1_HUMAN	transient receptor potential cation channel, subfamily M, member 1	54					cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		CCATAGGAATCTGTTGGGTAG	0.483													71	457					2.23399e-28	2.97144e-28	1	1	0	A	31362287	C	A	31362287	3	1	81	1	0	0	0	0	1	0	0	0	16646	913	32	4	4751	4	TRPM1	15	31362287	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	6857	31362287	71169105	10834	14450											
OTUD7A	161725	broad.mit.edu	37	15	31862287	31862287	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:31862287G>A	ENST00000382902.1	-	2	357	c.265C>T	c.(265-267)Cga>Tga	p.R89*	OTUD7A_ENST00000307050.4_Nonsense_Mutation_p.R89*			Q8TE49	OTU7A_HUMAN	OTU domain containing 7A	89						cytoplasm|nucleus	cysteine-type peptidase activity|DNA binding|zinc ion binding	p.R89*(1)		endometrium(7)|large_intestine(4)|lung(11)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	30		all_lung(180;1.6e-09)		all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208)		TGTGGCTCTCGCTCTGGCTGC	0.642													21	28					0	0	1	0	0	A	31862287	G	A	31862287	4	1	81	1	0	0	0	0	0	1	0	0	11365	1095	38	1	2555	1	OTUD7A	15	31862287	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	500000	31862287	70669105	10835	14451											
CHRNA7	1139	broad.mit.edu	37	15	32460237	32460237	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:32460237C>T	ENST00000306901.3	+	10	1184	c.1087C>T	c.(1087-1089)Cgc>Tgc	p.R363C	CHRNA7_ENST00000454250.3_Missense_Mutation_p.R392C|CHRNA7_ENST00000455693.2_Missense_Mutation_p.R182C	NM_000746.5	NP_000737.1	P36544	ACHA7_HUMAN	cholinergic receptor, nicotinic, alpha 7 (neuronal)	363					activation of MAPK activity|calcium ion transport|cellular calcium ion homeostasis|memory|negative regulation of tumor necrosis factor production|positive regulation of angiogenesis|positive regulation of cell proliferation|response to hypoxia|response to nicotine	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|beta-amyloid binding|chloride channel regulator activity|nicotinic acetylcholine-activated cation-selective channel activity|protein homodimerization activity|toxin binding			endometrium(3)|large_intestine(1)|lung(6)|ovary(2)	12		all_lung(180;6.35e-11)		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)	Nicotine(DB00184)|Varenicline(DB01273)	CAAGCAGCGGCGCTGCAGCCT	0.687													8	37					0	0	1	0	0	T	32460237	C	T	32460237	3	4	81	1	0	0	0	0	1	0	0	0	3410	768	27	1	1125	1	CHRNA7	15	32460237	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	597950	32460237	70071155	10836	14452											
ARHGAP11A	9824	broad.mit.edu	37	15	32917784	32917784	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:32917784A>T	ENST00000361627.3	+	6	1534	c.812A>T	c.(811-813)gAa>gTa	p.E271V	ARHGAP11A_ENST00000543522.1_Missense_Mutation_p.E82V|ARHGAP11A_ENST00000567348.1_Missense_Mutation_p.E271V|ARHGAP11A_ENST00000563864.1_Missense_Mutation_p.E271V|ARHGAP11A_ENST00000565905.1_Missense_Mutation_p.E82V	NM_014783.3	NP_055598.1	Q6P4F7	RHGBA_HUMAN	Rho GTPase activating protein 11A	271					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		all_lung(180;1.3e-11)		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)		GAAGAAGGTGAATATGAAACT	0.423													13	140					0	0	1	0	0	T	32917784	A	T	32917784	3	4	81	1	0	0	0	0	1	0	0	0	860	246	9	5	834	5	ARHGAP11A	15	32917784	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	457547	32917784	69613608	10837	14453											
ARHGAP11A	9824	broad.mit.edu	37	15	32928743	32928743	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:32928743A>G	ENST00000361627.3	+	12	2491	c.1769A>G	c.(1768-1770)aAc>aGc	p.N590S	ARHGAP11A_ENST00000543522.1_Missense_Mutation_p.N401S|ARHGAP11A_ENST00000565905.1_Missense_Mutation_p.N401S	NM_014783.3	NP_055598.1	Q6P4F7	RHGBA_HUMAN	Rho GTPase activating protein 11A	590					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		all_lung(180;1.3e-11)		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)		GATGAAAATAACATGACCAAA	0.383													31	59					0	0	1	0	0	G	32928743	A	G	32928743	3	3	81	1	0	0	0	0	1	0	0	0	860	43	2	3	1838	3	ARHGAP11A	15	32928743	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	10959	32928743	69602649	10838	14454											
FMN1	342184	broad.mit.edu	37	15	33200738	33200738	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:33200738G>A	ENST00000334528.9	-	8	2660	c.2661C>T	c.(2659-2661)taC>taT	p.Y887Y	FMN1_ENST00000561249.1_Silent_p.Y1012Y|FMN1_ENST00000559047.1_Silent_p.Y1110Y	NM_001103184.2	NP_001096654.1	Q68DA7	FMN1_HUMAN	formin 1	1110	FH1.|Pro-rich.				actin cytoskeleton organization	actin cytoskeleton|adherens junction|cytoplasm|nucleus	actin binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)		TGGATGTCTCGTAATACTTTC	0.353													4	51					0	0	1	0	0	A	33200738	G	A	33200738	2	1	81	1	0	0	0	0	0	0	0	1	5982	1140	40	1		1	FMN1	15	33200738	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	271995	33200738	69330654	10839	14455											
FMN1	342184	broad.mit.edu	37	15	33261476	33261476	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:33261476C>A	ENST00000334528.9	-	4	1756	c.1757G>T	c.(1756-1758)aGa>aTa	p.R586I	FMN1_ENST00000561249.1_Missense_Mutation_p.R711I|FMN1_ENST00000559047.1_Missense_Mutation_p.R809I	NM_001103184.2	NP_001096654.1	Q68DA7	FMN1_HUMAN	formin 1	809	Mediates interaction with alpha-catenin (By similarity).|Microtubule-binding (By similarity).				actin cytoskeleton organization	actin cytoskeleton|adherens junction|cytoplasm|nucleus	actin binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)		GAAGGTCTCTCTGTCTGTCTG	0.468													44	366					4.86159e-25	6.42726e-25	1	1	0	A	33261476	C	A	33261476	3	1	81	1	0	0	0	0	1	0	0	0	5982	913	32	4	1889	4	FMN1	15	33261476	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	60738	33261476	69269916	10840	14456											
RYR3	6263	broad.mit.edu	37	15	33893742	33893742	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:33893742C>T	ENST00000389232.4	+	17	1981	c.1911C>T	c.(1909-1911)aaC>aaT	p.N637N	RYR3_ENST00000415757.3_Silent_p.N637N	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	637	B30.2/SPRY 1.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GACTGATTAACGATGTAACCA	0.507													8	12					0	0	1	0	0	T	33893742	C	T	33893742	2	4	81	1	0	0	0	0	0	0	0	1	13822	535	19	1		1	RYR3	15	33893742	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	632266	33893742	68637650	10841	14457											
RYR3	6263	broad.mit.edu	37	15	33955767	33955767	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:33955767C>T	ENST00000389232.4	+	36	5518	c.5448C>T	c.(5446-5448)gaC>gaT	p.D1816D	RYR3_ENST00000415757.3_Silent_p.D1816D	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1816	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		ATCTCTGCGACTGTGAGCTGC	0.468													6	20					0	0	1	0	0	T	33955767	C	T	33955767	2	4	81	1	0	0	0	0	0	0	0	1	13822	564	20	2		2	RYR3	15	33955767	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	62025	33955767	68575625	10842	14458											
RYR3	6263	broad.mit.edu	37	15	34042459	34042459	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:34042459C>A	ENST00000389232.4	+	57	8441	c.8371C>A	c.(8371-8373)Ctc>Atc	p.L2791I	RYR3_ENST00000415757.3_Missense_Mutation_p.L2791I	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	2791	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GTTTAAGTTCCTCCAAGTGAA	0.502													3	22					0.115264	0.117126	1	1	0	A	34042459	C	A	34042459	3	1	81	1	0	0	0	0	1	0	0	0	13822	681	24	4	8597	4	RYR3	15	34042459	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	86692	34042459	68488933	10843	14459											
RYR3	6263	broad.mit.edu	37	15	34078053	34078053	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:34078053G>A	ENST00000389232.4	+	66	9529	c.9459G>A	c.(9457-9459)ctG>ctA	p.L3153L	RYR3_ENST00000415757.3_Silent_p.L3153L	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	3153					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CTGAGAACCTGCCCCCCAGCA	0.567													11	180					0	0	1	0	0	A	34078053	G	A	34078053	2	1	81	1	0	0	0	0	0	0	0	1	13822	1306	46	2		2	RYR3	15	34078053	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	35594	34078053	68453339	10844	14460											
RYR3	6263	broad.mit.edu	37	15	34113774	34113774	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:34113774C>A	ENST00000389232.4	+	80	11036	c.10966C>A	c.(10966-10968)Ctg>Atg	p.L3656M	RYR3_ENST00000415757.3_Missense_Mutation_p.L3651M	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	3656					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GATCGCCATTCTGAACGGAGG	0.542													24	31					4.87955e-14	6.177e-14	1	1	0	A	34113774	C	A	34113774	3	1	81	1	0	0	0	0	1	0	0	0	13822	912	32	4	11284	4	RYR3	15	34113774	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	35721	34113774	68417618	10845	14461											
RYR3	6263	broad.mit.edu	37	15	34123219	34123219	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:34123219C>A	ENST00000389232.4	+	86	11460	c.11390C>A	c.(11389-11391)tCt>tAt	p.S3797Y	RYR3_ENST00000415757.3_Missense_Mutation_p.S3792Y	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	3797					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		ATTGATGAATCTGGACAGCAC	0.383													16	23					1.3612e-06	1.56842e-06	1	1	0	A	34123219	C	A	34123219	3	1	81	1	0	0	0	0	1	0	0	0	13822	913	32	4	11732	4	RYR3	15	34123219	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	9445	34123219	68408173	10846	14462											
RYR3	6263	broad.mit.edu	37	15	34130616	34130616	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:34130616C>A	ENST00000389232.4	+	89	12505	c.12435C>A	c.(12433-12435)gcC>gcA	p.A4145A	RYR3_ENST00000415757.3_Silent_p.A4140A	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	4145					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TTGCTATGGCCTGTGCCTCTG	0.493													13	73					1.5739e-10	1.93127e-10	1	1	0	A	34130616	C	A	34130616	2	1	81	1	0	0	0	0	0	0	0	1	13822	668	24	4		4	RYR3	15	34130616	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	7397	34130616	68400776	10847	14463											
RYR3	6263	broad.mit.edu	37	15	34130920	34130920	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:34130920A>G	ENST00000389232.4	+	89	12809	c.12739A>G	c.(12739-12741)Act>Gct	p.T4247A	RYR3_ENST00000415757.3_Missense_Mutation_p.T4242A	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	4247					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CCATGATGACACTATGGAGGC	0.502													18	18					0	0	1	0	0	G	34130920	A	G	34130920	3	3	81	1	0	0	0	0	1	0	0	0	13822	159	6	3	13093	3	RYR3	15	34130920	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	304	34130920	68400472	10848	14464											
CHRM5	1133	broad.mit.edu	37	15	34354990	34354990	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:34354990C>T	ENST00000383263.5	+	3	742	c.72C>T	c.(70-72)cgC>cgT	p.R24R	CHRM5_ENST00000557872.1_Silent_p.R24R	NM_012125.3	NP_036257.1	P08912	ACM5_HUMAN	cholinergic receptor, muscarinic 5	24					cell proliferation|inhibition of adenylate cyclase activity by muscarinic acetylcholine receptor signaling pathway	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	20		all_lung(180;1.76e-08)		all cancers(64;4.82e-17)|GBM - Glioblastoma multiforme(113;2.58e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0262)	Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372)	CTTTGGAACGCCACAGGTTGT	0.473											OREG0023033	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	31	43					0	0	1	0	0	T	34354990	C	T	34354990	2	4	81	1	0	0	0	0	0	0	0	1	3402	726	26	2		2	CHRM5	15	34354990	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	224070	34354990	68176402	10849	14465											
CHRM5	1133	broad.mit.edu	37	15	34355192	34355192	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:34355192C>T	ENST00000383263.5	+	3	944	c.274C>T	c.(274-276)Ctc>Ttc	p.L92F	CHRM5_ENST00000557872.1_Missense_Mutation_p.L92F	NM_012125.3	NP_036257.1	P08912	ACM5_HUMAN	cholinergic receptor, muscarinic 5	92					cell proliferation|inhibition of adenylate cyclase activity by muscarinic acetylcholine receptor signaling pathway	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	20		all_lung(180;1.76e-08)		all cancers(64;4.82e-17)|GBM - Glioblastoma multiforme(113;2.58e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0262)	Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372)	CACCTACATCCTCATGGGACG	0.517													10	20					0	0	1	0	0	T	34355192	C	T	34355192	3	4	81	1	0	0	0	0	1	0	0	0	3402	681	24	2	276	2	CHRM5	15	34355192	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	202	34355192	68176200	10850	14466											
CHRM5	1133	broad.mit.edu	37	15	34355303	34355303	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:34355303T>C	ENST00000383263.5	+	3	1055	c.385T>C	c.(385-387)Tac>Cac	p.Y129H	CHRM5_ENST00000557872.1_Missense_Mutation_p.Y129H	NM_012125.3	NP_036257.1	P08912	ACM5_HUMAN	cholinergic receptor, muscarinic 5	129					cell proliferation|inhibition of adenylate cyclase activity by muscarinic acetylcholine receptor signaling pathway	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	20		all_lung(180;1.76e-08)		all cancers(64;4.82e-17)|GBM - Glioblastoma multiforme(113;2.58e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0262)	Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372)	TTTTGACCGTTACTTTTCCAT	0.532													4	66					0	0	1	0	0	C	34355303	T	C	34355303	3	2	81	1	0	0	0	0	1	0	0	0	3402	1754	61	3	387	3	CHRM5	15	34355303	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	111	34355303	68176089	10851	14467											
CHRM5	1133	broad.mit.edu	37	15	34355585	34355585	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:34355585C>T	ENST00000383263.5	+	3	1337	c.667C>T	c.(667-669)Cga>Tga	p.R223*	CHRM5_ENST00000557872.1_Nonsense_Mutation_p.R223*	NM_012125.3	NP_036257.1	P08912	ACM5_HUMAN	cholinergic receptor, muscarinic 5	223					cell proliferation|inhibition of adenylate cyclase activity by muscarinic acetylcholine receptor signaling pathway	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	20		all_lung(180;1.76e-08)		all cancers(64;4.82e-17)|GBM - Glioblastoma multiforme(113;2.58e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0262)	Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372)	AACAGAGAAGCGAACCAAGGA	0.527													8	166					0	0	1	0	0	T	34355585	C	T	34355585	4	4	81	1	0	0	0	0	0	1	0	0	3402	760	27	1	669	1	CHRM5	15	34355585	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	282	34355585	68175807	10852	14468											
SLC12A6	9990	broad.mit.edu	37	15	34531196	34531196	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:34531196C>T	ENST00000354181.3	-	20	3094	c.2602G>A	c.(2602-2604)Gaa>Aaa	p.E868K	SLC12A6_ENST00000560164.1_Missense_Mutation_p.E680K|SLC12A6_ENST00000397702.2_Missense_Mutation_p.E809K|SLC12A6_ENST00000458406.2_Missense_Mutation_p.E809K|SLC12A6_ENST00000560611.1_Missense_Mutation_p.E868K|SLC12A6_ENST00000290209.5_Missense_Mutation_p.E817K|SLC12A6_ENST00000451844.2_Missense_Mutation_p.E680K|SLC12A6_ENST00000558667.1_Missense_Mutation_p.E868K|SLC12A6_ENST00000397707.2_Missense_Mutation_p.E853K|SLC12A6_ENST00000558589.1_Missense_Mutation_p.E859K			Q9UHW9	S12A6_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 6	868					angiogenesis|cellular hypotonic salinity response|potassium ion transport|sodium ion transport	basolateral plasma membrane|integral to membrane	potassium:chloride symporter activity	p.E859K(1)|p.E817K(1)		central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3)	45		all_lung(180;2.78e-08)		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	Potassium Chloride(DB00761)	CGGGCATCTTCGCTTTGACGC	0.517													86	138					0	0	1	0	0	T	34531196	C	T	34531196	3	4	81	1	0	0	0	0	1	0	0	0	14442	893	31	1	878	1	SLC12A6	15	34531196	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	175611	34531196	68000196	10853	14469											
LPCAT4	254531	broad.mit.edu	37	15	34652402	34652402	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:34652402C>A	ENST00000314891.6	-	12	1329	c.1152G>T	c.(1150-1152)aaG>aaT	p.K384N		NM_153613.2	NP_705841.2	Q643R3	LPCT4_HUMAN	lysophosphatidylcholine acyltransferase 4	384					phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity|calcium ion binding			NS(1)|breast(1)|large_intestine(2)|lung(5)|prostate(1)	10						CCACCAAACCCTTGGTATCCT	0.552													6	54					3.59834e-05	3.99423e-05	1	1	0	A	34652402	C	A	34652402	3	1	81	1	0	0	0	0	1	0	0	0	8958	680	24	4	434	4	LPCAT4	15	34652402	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	121206	34652402	67878990	10854	14470											
AQR	9716	broad.mit.edu	37	15	35166166	35166166	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:35166166G>T	ENST00000156471.5	-	30	3685	c.3460C>A	c.(3460-3462)Cta>Ata	p.L1154I		NM_014691.2	NP_055506.1	O60306	AQR_HUMAN	aquarius intron-binding spliceosomal factor	1154						catalytic step 2 spliceosome	RNA binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	57		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)		AAGTTTCCTAGATTCTTGTAT	0.388													21	36					7.41877e-09	8.87549e-09	1	1	0	T	35166166	G	T	35166166	3	4	81	1	0	0	0	0	1	0	0	0	832	933	33	4	1021	4	AQR	15	35166166	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	513764	35166166	67365226	10855	14471											
AQR	9716	broad.mit.edu	37	15	35210528	35210528	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:35210528G>A	ENST00000156471.5	-	15	1498	c.1273C>T	c.(1273-1275)Cct>Tct	p.P425S		NM_014691.2	NP_055506.1	O60306	AQR_HUMAN	aquarius intron-binding spliceosomal factor	425						catalytic step 2 spliceosome	RNA binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	57		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)		GGATACAAAGGCATCTGGTTC	0.368													19	36					0	0	1	0	0	A	35210528	G	A	35210528	3	1	81	1	0	0	0	0	1	0	0	0	832	1203	42	2	3268	2	AQR	15	35210528	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	44362	35210528	67320864	10856	14472											
ZNF770	54989	broad.mit.edu	37	15	35274890	35274890	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:35274890A>G	ENST00000356321.4	-	3	1090	c.746T>C	c.(745-747)tTa>tCa	p.L249S		NM_014106.3	NP_054825.2	Q6IQ21	ZN770_HUMAN	zinc finger protein 770	249					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)	29		Lung NSC(122;4.59e-10)|all_lung(180;8.78e-09)		all cancers(64;1.97e-18)|GBM - Glioblastoma multiforme(113;2.11e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0643)		CCTCTTCTTTAATAAAAGAGC	0.358													6	28					0	0	1	0	0	G	35274890	A	G	35274890	3	3	81	1	0	0	0	0	1	0	0	0	18193	372	13	3	1333	3	ZNF770	15	35274890	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	64362	35274890	67256502	10857	14473											
ZNF770	54989	broad.mit.edu	37	15	35275397	35275397	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:35275397G>T	ENST00000356321.4	-	3	583	c.239C>A	c.(238-240)cCt>cAt	p.P80H		NM_014106.3	NP_054825.2	Q6IQ21	ZN770_HUMAN	zinc finger protein 770	80					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)	29		Lung NSC(122;4.59e-10)|all_lung(180;8.78e-09)		all cancers(64;1.97e-18)|GBM - Glioblastoma multiforme(113;2.11e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0643)		ACATTTAAAAGGCAGACTATG	0.353													25	60					9.86323e-18	1.27458e-17	1	1	0	T	35275397	G	T	35275397	3	4	81	1	0	0	0	0	1	0	0	0	18193	1000	35	4	1840	4	ZNF770	15	35275397	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	507	35275397	67255995	10858	14474											
C15orf41	84529	broad.mit.edu	37	15	37100621	37100621	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:37100621G>A	ENST00000563167.1	+	2	259	c.100G>A	c.(100-102)Gaa>Aaa	p.E34K	C15orf41_ENST00000567389.1_Silent_p.T173T|C15orf41_ENST00000565792.1_3'UTR|CSNK1A1P1_ENST00000430593.3_RNA|C15orf41_ENST00000562877.1_Silent_p.T173T|C15orf41_ENST00000566621.1_Silent_p.T271T|C15orf41_ENST00000437989.2_Silent_p.T271T|C15orf41_ENST00000569302.1_Silent_p.T277T|C15orf41_ENST00000338183.4_Silent_p.T173T|C15orf41_ENST00000562489.1_Silent_p.T95T			Q9Y2V0	CO041_HUMAN	chromosome 15 open reading frame 41	0							protein binding			kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	12		all_epithelial(112;3.06e-10)|Lung NSC(122;6.48e-08)|all_lung(180;8.31e-07)|Melanoma(134;0.222)		all cancers(64;1.76e-19)|GBM - Glioblastoma multiforme(113;5.03e-07)|BRCA - Breast invasive adenocarcinoma(123;0.11)		GTTTCCCCACGAACATTGTCA	0.493													12	23					0	0	1	0	0	A	37100621	G	A	37100621	3	1	81	1	0	0	0	0	1	0	0	0	1801	1045	37	1	855	1	C15orf41	15	37100621	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1825224	37100621	65430771	10859	14475											
MEIS2	4212	broad.mit.edu	37	15	37329158	37329158	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:37329158C>T	ENST00000338564.5	-	9	1203	c.757G>A	c.(757-759)Gat>Aat	p.D253N	MEIS2_ENST00000382766.2_Missense_Mutation_p.D253N|MEIS2_ENST00000559561.1_Missense_Mutation_p.D253N|MEIS2_ENST00000424352.2_Missense_Mutation_p.D253N|MEIS2_ENST00000340545.5_Missense_Mutation_p.D240N|MEIS2_ENST00000444725.1_Missense_Mutation_p.D253N|MEIS2_ENST00000397620.2_Missense_Mutation_p.D165N|MEIS2_ENST00000219869.9_Missense_Mutation_p.D107N|MEIS2_ENST00000557796.2_Missense_Mutation_p.D240N|MEIS2_ENST00000561208.1_Missense_Mutation_p.D253N|MEIS2_ENST00000559085.1_Missense_Mutation_p.D240N|MEIS2_ENST00000397624.3_Missense_Mutation_p.D165N	NM_001220482.1	NP_001207411.1	O14770	MEIS2_HUMAN	Meis homeobox 2	253	Asp/Glu-rich (acidic).				negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	36		all_epithelial(112;9.77e-14)|Lung NSC(122;1.42e-09)|all_lung(180;2.2e-08)|Ovarian(310;0.134)|Melanoma(134;0.155)		all cancers(64;9.33e-21)|GBM - Glioblastoma multiforme(113;1.71e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0288)		TCTAAACCATCCCCTAGTAGA	0.408													29	55					0	0	1	0	0	T	37329158	C	T	37329158	3	4	81	1	0	0	0	0	1	0	0	0	9518	855	30	2	759	2	MEIS2	15	37329158	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	228537	37329158	65202234	10860	14476											
SPRED1	161742	broad.mit.edu	37	15	38591666	38591666	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:38591666T>C	ENST00000299084.4	+	2	985	c.125T>C	c.(124-126)gTc>gCc	p.V42A	SPRED1_ENST00000561205.1_3'UTR	NM_152594.2	NP_689807.1	Q7Z699	SPRE1_HUMAN	sprouty-related, EVH1 domain containing 1	42	WH1.				inactivation of MAPK activity|multicellular organismal development	caveola|nucleus	stem cell factor receptor binding			kidney(6)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(109;4.88e-13)|all_epithelial(112;1.83e-11)|Lung NSC(122;2.21e-09)|all_lung(180;4.64e-08)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(113;2.41e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		CTAAGCAGCGTCACTGTCTTC	0.458									Legius syndrome				19	31					0	0	1	0	0	C	38591666	T	C	38591666	3	2	81	1	0	0	0	0	1	0	0	0	15148	1667	58	3	131	3	SPRED1	15	38591666	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	1262508	38591666	63939726	10861	14477											
SPRED1	161742	broad.mit.edu	37	15	38643407	38643407	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:38643407C>T	ENST00000299084.4	+	7	1737	c.877C>T	c.(877-879)Ctg>Ttg	p.L293L		NM_152594.2	NP_689807.1	Q7Z699	SPRE1_HUMAN	sprouty-related, EVH1 domain containing 1	293					inactivation of MAPK activity|multicellular organismal development	caveola|nucleus	stem cell factor receptor binding			kidney(6)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(109;4.88e-13)|all_epithelial(112;1.83e-11)|Lung NSC(122;2.21e-09)|all_lung(180;4.64e-08)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(113;2.41e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		ATCAGACTATCTGTACTCTTG	0.378									Legius syndrome				27	39					0	0	1	0	0	T	38643407	C	T	38643407	2	4	81	1	0	0	0	0	0	0	0	1	15148	912	32	2		2	SPRED1	15	38643407	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	51741	38643407	63887985	10862	14478											
C15orf54	400360	broad.mit.edu	37	15	39544356	39544356	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:39544356C>A	ENST00000318578.3	+	2	388	c.20C>A	c.(19-21)aCt>aAt	p.T7N	RP11-624L4.1_ENST00000561058.1_RNA|RP11-624L4.1_ENST00000560484.1_RNA|RP11-624L4.1_ENST00000558209.1_RNA|C15orf54_ENST00000561223.1_Missense_Mutation_p.T7N	NM_207445.2	NP_997328.1	Q8N8G6	CO054_HUMAN	chromosome 15 open reading frame 54	7										NS(1)|haematopoietic_and_lymphoid_tissue(2)|lung(2)	5		all_cancers(109;5.39e-14)|all_epithelial(112;3.14e-12)|Lung NSC(122;9.74e-10)|all_lung(180;2.23e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)		GBM - Glioblastoma multiforme(113;1.19e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0706)		AAATTCATTACTGGCAAGCAC	0.473													22	193					1.10513e-12	1.38486e-12	1	1	0	A	39544356	C	A	39544356	3	1	81	1	0	0	0	0	1	0	0	0	1808	565	20	4	22	4	C15orf54	15	39544356	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	900949	39544356	62987036	10863	14479											
THBS1	7057	broad.mit.edu	37	15	39874935	39874935	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:39874935C>T	ENST00000260356.5	+	3	774	c.609C>T	c.(607-609)ggC>ggT	p.G203G		NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN	thrombospondin 1	203	TSP N-terminal.				activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	Becaplermin(DB00102)	CAAAGGGGGGCGTCAATGACA	0.557													4	13					0	0	1	0	0	T	39874935	C	T	39874935	2	4	81	1	0	0	0	0	0	0	0	1	15913	755	27	1		1	THBS1	15	39874935	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	330579	39874935	62656457	10864	14480											
THBS1	7057	broad.mit.edu	37	15	39883813	39883813	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:39883813A>G	ENST00000260356.5	+	16	2686	c.2521A>G	c.(2521-2523)Aat>Gat	p.N841D		NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN	thrombospondin 1	841					activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	Becaplermin(DB00102)	CTTGGAACACAATCCGGATCA	0.453													40	61					0	0	1	0	0	G	39883813	A	G	39883813	3	3	81	1	0	0	0	0	1	0	0	0	15913	130	5	3	2579	3	THBS1	15	39883813	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	8878	39883813	62647579	10865	14481											
EIF2AK4	440275	broad.mit.edu	37	15	40265883	40265883	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:40265883C>T	ENST00000263791.5	+	11	1794	c.1751C>T	c.(1750-1752)tCc>tTc	p.S584F	EIF2AK4_ENST00000382727.2_Missense_Mutation_p.S584F|EIF2AK4_ENST00000559624.1_Missense_Mutation_p.S584F	NM_001013703.2	NP_001013725.2	Q9P2K8	E2AK4_HUMAN	eukaryotic translation initiation factor 2 alpha kinase 4	584					translation	cytosolic ribosome	aminoacyl-tRNA ligase activity|ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)	40		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)		AGACAGTTTTCCCGATACTTC	0.428													58	81					0	0	1	0	0	T	40265883	C	T	40265883	3	4	81	1	0	0	0	0	1	0	0	0	5025	855	30	2	1793	2	EIF2AK4	15	40265883	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	382070	40265883	62265509	10866	14482											
BUB1B	701	broad.mit.edu	37	15	40457360	40457360	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:40457360G>A	ENST00000287598.6	+	2	337	c.142G>A	c.(142-144)Gaa>Aaa	p.E48K	BUB1B_ENST00000560120.1_Intron|BUB1B_ENST00000412359.3_Missense_Mutation_p.E48K	NM_001211.5	NP_001202	O60566	BUB1B_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase B	48					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell division|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|phosphatidylinositol-mediated signaling|protein localization to kinetochore|spindle organization	anaphase-promoting complex|condensed chromosome outer kinetochore|cytosol|microtubule organizing center|perinuclear region of cytoplasm|spindle midzone	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(1)|stomach(2)|urinary_tract(2)	36		all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556)		ACTGGCACAAGAATCTGCCTG	0.473			"Mis, N, F, S"			rhabdomyosarcoma			Mosaic Variegated Aneuploidy Syndrome				26	61					0	0	1	0	0	A	40457360	G	A	40457360	3	1	81	1	0	0	0	0	1	0	0	0	1574	943	33	2	148	2	BUB1B	15	40457360	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	191477	40457360	62074032	10867	14483											
PAK6	56924	broad.mit.edu	37	15	40564517	40564517	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:40564517C>A	ENST00000455577.2	+	6	1863	c.951C>A	c.(949-951)acC>acA	p.T317T	PAK6_ENST00000260404.4_Silent_p.T317T|PAK6_ENST00000441369.1_Silent_p.T317T|PAK6_ENST00000542403.2_Silent_p.T317T|PAK6_ENST00000453867.1_Silent_p.T317T|RP11-133K1.2_ENST00000558658.1_3'UTR|PAK6_ENST00000560346.1_Silent_p.T317T	NM_001276718.1	NP_001263647.1	Q9NQU5	PAK6_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 6	317	Linker.						ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|cervix(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(2)	24		all_cancers(109;1.13e-18)|all_epithelial(112;1.62e-15)|Lung NSC(122;5.67e-11)|all_lung(180;1.41e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0823)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.51e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0544)		CGGTGGGGACCTTCAGCCCTC	0.677													6	78					0.00116845	0.00124301	1	1	0	A	40564517	C	A	40564517	2	1	81	1	0	0	0	0	0	0	0	1	11451	668	24	4		4	PAK6	15	40564517	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	107157	40564517	61966875	10868	14484											
PAK6	56924	broad.mit.edu	37	15	40565608	40565608	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:40565608C>T	ENST00000455577.2	+	8	2464	c.1552C>T	c.(1552-1554)Cat>Tat	p.H518Y	PAK6_ENST00000260404.4_Missense_Mutation_p.H518Y|PAK6_ENST00000441369.1_Missense_Mutation_p.H518Y|PAK6_ENST00000542403.2_Missense_Mutation_p.H518Y|PAK6_ENST00000453867.1_Missense_Mutation_p.H518Y|RP11-133K1.2_ENST00000558658.1_3'UTR|PAK6_ENST00000560346.1_Missense_Mutation_p.H518Y	NM_001276718.1	NP_001263647.1	Q9NQU5	PAK6_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 6	518	Protein kinase.						ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|cervix(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(2)	24		all_cancers(109;1.13e-18)|all_epithelial(112;1.62e-15)|Lung NSC(122;5.67e-11)|all_lung(180;1.41e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0823)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.51e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0544)		GGCCTACCTGCATGCTCAGGG	0.607													5	23					0	0	1	0	0	T	40565608	C	T	40565608	3	4	81	1	0	0	0	0	1	0	0	0	11451	710	25	2	1570	2	PAK6	15	40565608	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1091	40565608	61965784	10869	14485											
DISP2	85455	broad.mit.edu	37	15	40657910	40657910	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:40657910G>A	ENST00000267889.3	+	7	1016	c.929G>A	c.(928-930)cGc>cAc	p.R310H		NM_033510.1	NP_277045.1	A7MBM2	DISP2_HUMAN	dispatched homolog 2 (Drosophila)	310					smoothened signaling pathway	integral to membrane				breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)	30		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)		TCCATGTGTCGCATGGAACAG	0.562													6	118					0	0	1	0	0	A	40657910	G	A	40657910	3	1	81	1	0	0	0	0	1	0	0	0	4568	1087	38	1	955	1	DISP2	15	40657910	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	92302	40657910	61873482	10870	14486											
DISP2	85455	broad.mit.edu	37	15	40661824	40661824	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:40661824C>T	ENST00000267889.3	+	8	3598	c.3511C>T	c.(3511-3513)Cgt>Tgt	p.R1171C	RP11-64K12.4_ENST00000558421.1_RNA	NM_033510.1	NP_277045.1	A7MBM2	DISP2_HUMAN	dispatched homolog 2 (Drosophila)	1171					smoothened signaling pathway	integral to membrane				breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)	30		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)		CCTGGCACGGCGTCGGAGCCC	0.652													30	58					0	0	1	0	0	T	40661824	C	T	40661824	3	4	81	1	0	0	0	0	1	0	0	0	4568	768	27	1	3541	1	DISP2	15	40661824	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3914	40661824	61869568	10871	14487											
C15orf57	90416	broad.mit.edu	37	15	40855059	40855059	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:40855059G>A	ENST00000358005.3	-	2	429	c.156C>T	c.(154-156)ggC>ggT	p.G52G	C15orf57_ENST00000558113.1_Silent_p.G52G|C15orf57_ENST00000560305.1_Silent_p.G52G|C15orf57_ENST00000558750.1_Silent_p.G61G|C15orf57_ENST00000559911.1_Silent_p.G52G|C15orf57_ENST00000416810.2_Silent_p.G52G|C15orf57_ENST00000558871.1_Silent_p.G52G|C15orf57_ENST00000560109.1_5'UTR|C15orf57_ENST00000561011.1_Silent_p.G52G	NM_001080791.1|NM_052849.2	NP_001074260.1|NP_443081.1	Q9BV29	CO057_HUMAN	chromosome 15 open reading frame 57	52										endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	9						CCTCCCTCTGGCCTTCACCTT	0.493													48	85					0	0	1	0	0	A	40855059	G	A	40855059	2	1	81	1	0	0	0	0	0	0	0	1	1811	1190	42	2		2	C15orf57	15	40855059	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	193235	40855059	61676333	10872	14488											
CASC5	57082	broad.mit.edu	37	15	40913832	40913832	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:40913832G>T	ENST00000346991.5	+	11	1838	c.1448G>T	c.(1447-1449)aGt>aTt	p.S483I	CASC5_ENST00000527044.1_3'UTR|CASC5_ENST00000399668.2_Missense_Mutation_p.S457I			Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5	483	Interaction with BUB1 and BUB1B.				acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint	acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding			NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		AAGCATGACAGTAATTATGCT	0.358													5	59					0.000602214	0.000646338	1	1	0	T	40913832	G	T	40913832	3	4	81	1	0	0	0	0	1	0	0	0	2681	1029	36	4	1486	4	CASC5	15	40913832	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	58773	40913832	61617560	10873	14489											
CASC5	57082	broad.mit.edu	37	15	40915861	40915861	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:40915861A>G	ENST00000346991.5	+	11	3867	c.3477A>G	c.(3475-3477)acA>acG	p.T1159T	CASC5_ENST00000399668.2_Silent_p.T1133T			Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5	1159	2 X 104 AA approximate repeats.				acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint	acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding			NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		GGAGTCACACAACTGCCTTAG	0.428													23	37					0	0	1	0	0	G	40915861	A	G	40915861	2	3	81	1	0	0	0	0	0	0	0	1	2681	117	5	3		3	CASC5	15	40915861	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	2029	40915861	61615531	10874	14490											
CASC5	57082	broad.mit.edu	37	15	40949590	40949590	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:40949590G>T	ENST00000346991.5	+	25	7100	c.6710G>T	c.(6709-6711)aGa>aTa	p.R2237I	CASC5_ENST00000399668.2_Missense_Mutation_p.R2211I			Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5	2237	Necessary for kinetochore localization and for interaction with NSL1 and DSN1.				acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint	acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding			NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		CACCATTGCAGACTCCTTGGA	0.343													39	71					2.20914e-33	2.95378e-33	1	1	0	T	40949590	G	T	40949590	3	4	81	1	0	0	0	0	1	0	0	0	2681	942	33	4	6804	4	CASC5	15	40949590	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	33729	40949590	61581802	10875	14491											
ZFYVE19	84936	broad.mit.edu	37	15	41105049	41105049	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:41105049C>A	ENST00000355341.4	+	7	1480	c.979C>A	c.(979-981)Ctg>Atg	p.L327M	ZFYVE19_ENST00000564258.1_Missense_Mutation_p.L152M|ZFYVE19_ENST00000299173.10_Intron|ZFYVE19_ENST00000570108.1_Missense_Mutation_p.L304M|ZFYVE19_ENST00000336455.5_Missense_Mutation_p.L317M	NM_001077268.1	NP_001070736.1	Q96K21	ZFY19_HUMAN	zinc finger, FYVE domain containing 19	327							zinc ion binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	9		all_cancers(109;3.31e-18)|all_epithelial(112;2.33e-15)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;2.76e-05)|COAD - Colon adenocarcinoma(120;0.151)|BRCA - Breast invasive adenocarcinoma(123;0.164)		GGAACGGATTCTGGCCCTGGC	0.622													16	45					3.41278e-10	4.16681e-10	1	1	0	A	41105049	C	A	41105049	3	1	81	1	0	0	0	0	1	0	0	0	17723	912	32	4	1005	4	ZFYVE19	15	41105049	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	155459	41105049	61426343	10876	14492											
PPP1R14D	54866	broad.mit.edu	37	15	41107959	41107959	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:41107959C>T	ENST00000299174.5	-	4	440	c.373G>A	c.(373-375)Gct>Act	p.A125T	PPP1R14D_ENST00000427255.2_Splice_Site_p.R163R	NM_017726.7	NP_060196.1	Q9NXH3	PP14D_HUMAN	protein phosphatase 1, regulatory (inhibitor) subunit 14D	125					regulation of phosphorylation	cytoplasm	protein phosphatase inhibitor activity			breast(1)|large_intestine(2)|lung(2)|skin(1)	6		all_cancers(109;6.29e-14)|all_epithelial(112;1.48e-11)|Lung NSC(122;5.77e-09)|all_lung(180;1.08e-07)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;2.88e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166)		GAGATAAAAGCCTGAGGGAGA	0.562													14	14					0	0	1	0	0	T	41107959	C	T	41107959	5	4	81	1	0	0	0	0	0	0	1	0	12411	753	26	2	117	2	PPP1R14D	15	41107959	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2910	41107959	61423433	10877	14493											
VPS18	57617	broad.mit.edu	37	15	41192696	41192696	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:41192696A>G	ENST00000220509.5	+	4	2019	c.1680A>G	c.(1678-1680)gcA>gcG	p.A560A	VPS18_ENST00000558474.1_Intron	NM_020857.2	NP_065908.1	Q9P253	VPS18_HUMAN	vacuolar protein sorting 18 homolog (S. cerevisiae)	560					endosome organization|lysosome organization|protein transport	HOPS complex|late endosome membrane|lysosomal membrane	metal ion binding|protein binding			autonomic_ganglia(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	28		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)		TGTACTTTGCAGTGATCATGC	0.627													58	100					0	0	1	0	0	G	41192696	A	G	41192696	2	3	81	1	0	0	0	0	0	0	0	1	17254	175	7	3		3	VPS18	15	41192696	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	84737	41192696	61338696	10878	14494											
DLL4	54567	broad.mit.edu	37	15	41228901	41228901	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:41228901G>A	ENST00000249749.5	+	9	1992	c.1716G>A	c.(1714-1716)tcG>tcA	p.S572S		NM_019074.3	NP_061947.1	Q9NR61	DLL4_HUMAN	delta-like 4 (Drosophila)	572					blood circulation|cell communication|cell differentiation|Notch receptor processing|Notch signaling pathway	integral to membrane|plasma membrane	calcium ion binding|Notch binding			breast(3)|large_intestine(1)	4		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)		ACAACTTGTCGGACTTCCAGA	0.587													13	25					0	0	1	0	0	A	41228901	G	A	41228901	2	1	81	1	0	0	0	0	0	0	0	1	4596	1103	39	1		1	DLL4	15	41228901	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	36205	41228901	61302491	10879	14495											
CHAC1	79094	broad.mit.edu	37	15	41247771	41247771	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:41247771G>A	ENST00000446533.3	+	3	903	c.594G>A	c.(592-594)gcG>gcA	p.A198A	CHAC1_ENST00000444189.2_Silent_p.A153A|CHAC1_ENST00000487220.1_5'UTR	NM_001142776.1|NM_024111.3	NP_001136248.1|NP_077016.2	Q9BUX1	CHAC1_HUMAN	ChaC, cation transport regulator homolog 1 (E. coli)	198					apoptosis in response to endoplasmic reticulum stress|response to unfolded protein	cytosol	protein binding			endometrium(1)|large_intestine(1)|skin(1)	3		all_cancers(109;1.42e-13)|all_epithelial(112;1.48e-11)|Lung NSC(122;5.77e-09)|all_lung(180;1.08e-07)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;2.66e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.163)		TGGGCCCTGCGCCTGAAGAGG	0.597													52	86					0	0	1	0	0	A	41247771	G	A	41247771	2	1	81	1	0	0	0	0	0	0	0	1	3330	1074	38	1		1	CHAC1	15	41247771	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	18870	41247771	61283621	10880	14496											
INO80	54617	broad.mit.edu	37	15	41339616	41339616	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:41339616G>A	ENST00000361937.3	-	23	3149	c.2725C>T	c.(2725-2727)Ctt>Ttt	p.L909F	INO80_ENST00000401393.3_Missense_Mutation_p.L909F			Q9ULG1	INO80_HUMAN	INO80 complex subunit	909	Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2.				cell division|cellular response to ionizing radiation|cellular response to UV|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of cell growth|positive regulation of DNA replication involved in S phase|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly|UV-damage excision repair	Ino80 complex|microtubule	actin binding|alpha-tubulin binding|ATP binding|ATPase activity|DNA binding|DNA helicase activity			NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						CTGGCCAAAAGTCCCTGAAGC	0.343													19	19					0	0	1	0	0	A	41339616	G	A	41339616	3	1	81	1	0	0	0	0	1	0	0	0	7790	1029	36	2	2001	2	INO80	15	41339616	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	91845	41339616	61191776	10881	14497											
INO80	54617	broad.mit.edu	37	15	41347563	41347563	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:41347563C>A	ENST00000361937.3	-	18	2495		c.e18-1		INO80_ENST00000401393.3_Splice_Site			Q9ULG1	INO80_HUMAN	INO80 complex subunit						cell division|cellular response to ionizing radiation|cellular response to UV|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of cell growth|positive regulation of DNA replication involved in S phase|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly|UV-damage excision repair	Ino80 complex|microtubule	actin binding|alpha-tubulin binding|ATP binding|ATPase activity|DNA binding|DNA helicase activity			NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						GAGCCCAAAGCTGTAAACAAA	0.353													7	30					0.000157383	0.000171784	1	1	0	A	41347563	C	A	41347563	5	1	81	1	0	0	0	0	0	0	1	0	7790	811	28	4	2676	4	INO80	15	41347563	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	7947	41347563	61183829	10882	14498											
INO80	54617	broad.mit.edu	37	15	41372072	41372072	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:41372072G>A	ENST00000361937.3	-	9	1382	c.958C>T	c.(958-960)Cga>Tga	p.R320*	INO80_ENST00000401393.3_Nonsense_Mutation_p.R320*			Q9ULG1	INO80_HUMAN	INO80 complex subunit	320	Assembles INO80 complex module consisting of conserved components ACTR8, ACTL6A and YY1.|DBINO.				cell division|cellular response to ionizing radiation|cellular response to UV|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of cell growth|positive regulation of DNA replication involved in S phase|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly|UV-damage excision repair	Ino80 complex|microtubule	actin binding|alpha-tubulin binding|ATP binding|ATPase activity|DNA binding|DNA helicase activity			NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						AAGGCAGCTCGACGCACCTCC	0.517													63	74					0	0	1	0	0	A	41372072	G	A	41372072	4	1	81	1	0	0	0	0	0	1	0	0	7790	1066	37	1	3824	1	INO80	15	41372072	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	24509	41372072	61159320	10883	14499											
EXD1	161829	broad.mit.edu	37	15	41488137	41488137	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:41488137A>C	ENST00000314992.5	-	6	649	c.459T>G	c.(457-459)atT>atG	p.I153M	EXD1_ENST00000458580.2_Missense_Mutation_p.I211M	NM_152596.2	NP_689809.2	Q8NHP7	EXD1_HUMAN	exonuclease 3'-5' domain containing 1	153					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding			large_intestine(5)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(2)	16						TTACCTTCAAAATTCTCTTGT	0.388													18	39					0	0	1	0	0	C	41488137	A	C	41488137	3	2	81	1	0	0	0	0	1	0	0	0	5324	10	1	5	1105	5	EXD1	15	41488137	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	116065	41488137	61043255	10884	14500											
NUSAP1	51203	broad.mit.edu	37	15	41667964	41667964	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:41667964A>G	ENST00000260359.6	+	9	1280	c.1016A>G	c.(1015-1017)aAg>aGg	p.K339R	NUSAP1_ENST00000559596.1_Missense_Mutation_p.K354R|NUSAP1_ENST00000414849.2_Missense_Mutation_p.K353R|NUSAP1_ENST00000450318.1_Intron|NUSAP1_ENST00000450592.2_Intron|NUSAP1_ENST00000558123.1_Intron|NUSAP1_ENST00000560747.1_Missense_Mutation_p.K352R|NUSAP1_ENST00000560177.1_Missense_Mutation_p.K353R	NM_001243142.1|NM_001243143.1|NM_016359.4|NM_018454.7	NP_001230071.1|NP_001230072.1|NP_057443.2|NP_060924.4	Q9BXS6	NUSAP_HUMAN	nucleolar and spindle associated protein 1	354	Interaction with microtubules (By similarity).				cytokinesis after mitosis|establishment of mitotic spindle localization|mitotic chromosome condensation|positive regulation of mitosis	chromosome|cytoplasm|nucleolus	DNA binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(3)|ovary(1)|prostate(2)|urinary_tract(2)	13		all_cancers(109;5.07e-19)|all_epithelial(112;2.43e-16)|Lung NSC(122;1.81e-11)|all_lung(180;4.81e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)		OV - Ovarian serous cystadenocarcinoma(18;9.63e-17)|GBM - Glioblastoma multiforme(113;1.59e-06)|BRCA - Breast invasive adenocarcinoma(123;0.168)		GTCTCCAATAAGAAACCAGTG	0.408													8	62					0	0	1	0	0	G	41667964	A	G	41667964	3	3	81	1	0	0	0	0	1	0	0	0	10826	72	3	3	1095	3	NUSAP1	15	41667964	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	179827	41667964	60863428	10885	14501											
NDUFAF1	51103	broad.mit.edu	37	15	41688736	41688736	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:41688736G>A	ENST00000260361.4	-	2	903	c.522C>T	c.(520-522)gaC>gaT	p.D174D		NM_016013.3	NP_057097.2	Q9Y375	CIA30_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 1	174					mitochondrial electron transport, NADH to ubiquinone|protein complex assembly	mitochondrial respiratory chain complex I	unfolded protein binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	12		all_cancers(109;5.07e-19)|all_epithelial(112;2.43e-16)|Lung NSC(122;1.81e-11)|all_lung(180;4.81e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)		OV - Ovarian serous cystadenocarcinoma(18;8e-17)|GBM - Glioblastoma multiforme(113;1.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.114)		TAGACTCCCCGTCCTGAGGCG	0.488													19	36					0	0	1	0	0	A	41688736	G	A	41688736	2	1	81	1	0	0	0	0	0	0	0	1	10321	1136	40	1		1	NDUFAF1	15	41688736	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	20772	41688736	60842656	10886	14502											
RTF1	23168	broad.mit.edu	37	15	41749993	41749993	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:41749993C>T	ENST00000389629.4	+	4	593	c.581C>T	c.(580-582)gCc>gTc	p.A194V		NM_015138.4	NP_055953.3	Q92541	RTF1_HUMAN	Rtf1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)	194	Glu-rich.				histone modification|regulation of transcription, DNA-dependent|transcription initiation, DNA-dependent	nucleoplasm	protein binding|single-stranded DNA binding			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)	18		all_cancers(109;1.79e-19)|all_epithelial(112;8.18e-17)|Lung NSC(122;3.16e-11)|all_lung(180;8.14e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)		OV - Ovarian serous cystadenocarcinoma(18;1.15e-16)|GBM - Glioblastoma multiforme(113;1.81e-06)|BRCA - Breast invasive adenocarcinoma(123;0.119)		GAAGACAGGGCCCGTCTGGAA	0.478													12	108					0	0	1	0	0	T	41749993	C	T	41749993	3	4	81	1	0	0	0	0	1	0	0	0	13773	739	26	2	595	2	RTF1	15	41749993	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	61257	41749993	60781399	10887	14503											
LTK	4058	broad.mit.edu	37	15	41797252	41797252	+	Missense_Mutation	SNP	C	C	T	rs145997165		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:41797252C>T	ENST00000263800.6	-	16	2032	c.1936G>A	c.(1936-1938)Gcc>Acc	p.A646T	LTK_ENST00000355166.5_Missense_Mutation_p.A585T|LTK_ENST00000453182.2_Missense_Mutation_p.A516T|LTK_ENST00000561619.1_Missense_Mutation_p.A344T	NM_002344.5	NP_002335.2	P29376	LTK_HUMAN	leukocyte receptor tyrosine kinase	646	Protein kinase.				apoptosis|cell proliferation|phosphatidylinositol 3-kinase cascade|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(16)|skin(3)|urinary_tract(1)	26		all_cancers(109;1.89e-19)|all_epithelial(112;2.28e-16)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.172)		OV - Ovarian serous cystadenocarcinoma(18;2.1e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113)		CAGTTCCGGGCGGCAATATCC	0.527										TSP Lung(18;0.14)			6	20					0	0	1	0	0	T	41797252	C	T	41797252	3	4	81	1	0	0	0	0	1	0	0	0	9125	768	27	1	678	1	LTK	15	41797252	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	47259	41797252	60734140	10888	14504											
LTK	4058	broad.mit.edu	37	15	41797698	41797698	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:41797698A>C	ENST00000263800.6	-	14	1824	c.1728T>G	c.(1726-1728)tgT>tgG	p.C576W	LTK_ENST00000355166.5_Missense_Mutation_p.C515W|LTK_ENST00000453182.2_Missense_Mutation_p.C446W|LTK_ENST00000561619.1_Missense_Mutation_p.C274W	NM_002344.5	NP_002335.2	P29376	LTK_HUMAN	leukocyte receptor tyrosine kinase	576	Protein kinase.				apoptosis|cell proliferation|phosphatidylinositol 3-kinase cascade|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(16)|skin(3)|urinary_tract(1)	26		all_cancers(109;1.89e-19)|all_epithelial(112;2.28e-16)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.172)		OV - Ovarian serous cystadenocarcinoma(18;2.1e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113)		TGAGCCCCACACACCGCACAA	0.577										TSP Lung(18;0.14)			6	23					0	0	1	0	0	C	41797698	A	C	41797698	3	2	81	1	0	0	0	0	1	0	0	0	9125	157	6	5	894	5	LTK	15	41797698	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	446	41797698	60733694	10889	14505											
LTK	4058	broad.mit.edu	37	15	41799345	41799345	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:41799345G>A	ENST00000263800.6	-	11	1585	c.1489C>T	c.(1489-1491)Cct>Tct	p.P497S	LTK_ENST00000355166.5_Missense_Mutation_p.P436S|LTK_ENST00000453182.2_Missense_Mutation_p.A397V|LTK_ENST00000561619.1_Missense_Mutation_p.P195S	NM_002344.5	NP_002335.2	P29376	LTK_HUMAN	leukocyte receptor tyrosine kinase	497					apoptosis|cell proliferation|phosphatidylinositol 3-kinase cascade|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(16)|skin(3)|urinary_tract(1)	26		all_cancers(109;1.89e-19)|all_epithelial(112;2.28e-16)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.172)		OV - Ovarian serous cystadenocarcinoma(18;2.1e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113)		GGTGGCAGAGGCCAGGACTGG	0.582										TSP Lung(18;0.14)			22	40					0	0	1	0	0	A	41799345	G	A	41799345	3	1	81	1	0	0	0	0	1	0	0	0	9125	1203	42	2	1145	2	LTK	15	41799345	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1647	41799345	60732047	10890	14506											
MGA	23269	broad.mit.edu	37	15	41988656	41988656	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:41988656T>C	ENST00000219905.7	+	3	1629	c.1448T>C	c.(1447-1449)aTt>aCt	p.I483T	MGA_ENST00000568630.1_3'UTR|MGA_ENST00000545763.1_Missense_Mutation_p.I483T|MGA_ENST00000389936.4_Missense_Mutation_p.I483T|MGA_ENST00000566586.1_Missense_Mutation_p.I483T|MGA_ENST00000570161.1_Missense_Mutation_p.I483T	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN	MGA, MAX dimerization protein	483						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		ACAGTTAAGATTTCTGAACTC	0.398													15	85					0	0	1	0	0	C	41988656	T	C	41988656	3	2	81	1	0	0	0	0	1	0	0	0	9590	1493	52	3	1454	3	MGA	15	41988656	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	189311	41988656	60542736	10891	14507											
MGA	23269	broad.mit.edu	37	15	41989149	41989149	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:41989149G>A	ENST00000219905.7	+	3	2122	c.1941G>A	c.(1939-1941)ggG>ggA	p.G647G	MGA_ENST00000545763.1_Silent_p.G647G|MGA_ENST00000389936.4_Silent_p.G647G|MGA_ENST00000566586.1_Silent_p.G647G|MGA_ENST00000570161.1_Silent_p.G647G	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN	MGA, MAX dimerization protein	647						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		TAAGCCCTGGGAGTACCTTTC	0.408													6	8					0	0	1	0	0	A	41989149	G	A	41989149	2	1	81	1	0	0	0	0	0	0	0	1	9590	1161	41	2		2	MGA	15	41989149	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	493	41989149	60542243	10892	14508											
MGA	23269	broad.mit.edu	37	15	42042025	42042025	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:42042025C>T	ENST00000219905.7	+	17	6401	c.6220C>T	c.(6220-6222)Cgt>Tgt	p.R2074C	MGA_ENST00000545763.1_Missense_Mutation_p.R1865C|MGA_ENST00000389936.4_Missense_Mutation_p.R2035C|MGA_ENST00000566586.1_Missense_Mutation_p.R1865C|MGA_ENST00000570161.1_Missense_Mutation_p.R2074C	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN	MGA, MAX dimerization protein	2035						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		GGCTAGGAATCGTAAGAGTTC	0.378													25	40					0	0	1	0	0	T	42042025	C	T	42042025	3	4	81	1	0	0	0	0	1	0	0	0	9590	884	31	1	6282	1	MGA	15	42042025	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	52876	42042025	60489367	10893	14509											
MGA	23269	broad.mit.edu	37	15	42042740	42042740	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:42042740C>T	ENST00000219905.7	+	17	7116	c.6935C>T	c.(6934-6936)aCt>aTt	p.T2312I	MGA_ENST00000545763.1_Missense_Mutation_p.T2103I|MGA_ENST00000389936.4_Missense_Mutation_p.T2273I|MGA_ENST00000566586.1_Missense_Mutation_p.T2103I|MGA_ENST00000570161.1_Missense_Mutation_p.T2312I	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN	MGA, MAX dimerization protein	2273						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		AATGAGAAAACTGATGATTCT	0.403													5	11					0	0	1	0	0	T	42042740	C	T	42042740	3	4	81	1	0	0	0	0	1	0	0	0	9590	565	20	2	6997	2	MGA	15	42042740	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	715	42042740	60488652	10894	14510											
MGA	23269	broad.mit.edu	37	15	42058262	42058262	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:42058262G>A	ENST00000219905.7	+	24	8163	c.7982G>A	c.(7981-7983)gGa>gAa	p.G2661E	MGA_ENST00000545763.1_Missense_Mutation_p.G2452E|MGA_ENST00000389936.4_Missense_Mutation_p.G2622E|MGA_ENST00000566586.1_Missense_Mutation_p.G2452E|MGA_ENST00000570161.1_Missense_Mutation_p.G2661E	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN	MGA, MAX dimerization protein	2622						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		GCCACAGAGGGAGGTTTGGTA	0.368													30	53					0	0	1	0	0	A	42058262	G	A	42058262	3	1	81	1	0	0	0	0	1	0	0	0	9590	1174	41	2	8072	2	MGA	15	42058262	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	15522	42058262	60473130	10895	14511											
MGA	23269	broad.mit.edu	37	15	42058358	42058358	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:42058358A>C	ENST00000219905.7	+	24	8259	c.8078A>C	c.(8077-8079)aAt>aCt	p.N2693T	MGA_ENST00000545763.1_Missense_Mutation_p.N2484T|MGA_ENST00000389936.4_Missense_Mutation_p.N2654T|MGA_ENST00000566586.1_Missense_Mutation_p.N2484T|MGA_ENST00000570161.1_Missense_Mutation_p.N2693T	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN	MGA, MAX dimerization protein	2654						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		AATGAAGATAATTCCTTAGAG	0.458													6	47					0	0	1	0	0	C	42058358	A	C	42058358	3	2	81	1	0	0	0	0	1	0	0	0	9590	101	4	4	8168	4	MGA	15	42058358	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	96	42058358	60473034	10896	14512											
MAPKBP1	23005	broad.mit.edu	37	15	42109134	42109134	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:42109134C>T	ENST00000457542.2	+	14	1898	c.1612C>T	c.(1612-1614)Cgg>Tgg	p.R538W	MAPKBP1_ENST00000456763.2_Missense_Mutation_p.R544W|MAPKBP1_ENST00000260357.7_Missense_Mutation_p.R377W|MAPKBP1_ENST00000514566.1_Missense_Mutation_p.R538W|MAPKBP1_ENST00000221214.6_Missense_Mutation_p.R421W	NM_014994.2	NP_055809.2	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein 1	544										breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		ATCGGCGAGCCGGGACCGGCT	0.582													40	64					0	0	1	0	0	T	42109134	C	T	42109134	3	4	81	1	0	0	0	0	1	0	0	0	9342	643	23	1	1684	1	MAPKBP1	15	42109134	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	50776	42109134	60422258	10897	14513											
MAPKBP1	23005	broad.mit.edu	37	15	42113212	42113212	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:42113212A>G	ENST00000457542.2	+	23	2950	c.2664A>G	c.(2662-2664)ccA>ccG	p.P888P	MAPKBP1_ENST00000456763.2_Silent_p.P894P|MAPKBP1_ENST00000260357.7_Silent_p.P727P|MAPKBP1_ENST00000514566.1_Silent_p.P888P|MAPKBP1_ENST00000221214.6_Silent_p.P771P	NM_014994.2	NP_055809.2	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein 1	894										breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		CCATCATCCCATCTGGTCCCA	0.592													4	35					0	0	1	0	0	G	42113212	A	G	42113212	2	3	81	1	0	0	0	0	0	0	0	1	9342	204	8	3		3	MAPKBP1	15	42113212	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	4078	42113212	60418180	10898	14514											
PLA2G4B	100137049	broad.mit.edu	37	15	42133259	42133259	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:42133259G>T	ENST00000542534.2	+	10	1091	c.1051G>T	c.(1051-1053)Ggg>Tgg	p.G351W	JMJD7-PLA2G4B_ENST00000382448.4_Missense_Mutation_p.G351W|PLA2G4B_ENST00000452633.1_Missense_Mutation_p.G120W|PLA2G4B_ENST00000458483.1_Missense_Mutation_p.G120W|JMJD7-PLA2G4B_ENST00000342159.4_Missense_Mutation_p.G351W	NM_005090.3	NP_005081.1			phospholipase A2, group IVB (cytosolic)														all_cancers(109;1.84e-13)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		all cancers(2;1.08e-30)|Epithelial(2;1.43e-22)|OV - Ovarian serous cystadenocarcinoma(18;1.13e-17)|GBM - Glioblastoma multiforme(94;9.77e-07)|Colorectal(2;0.0129)|COAD - Colon adenocarcinoma(120;0.0371)		CCAGGGTGAGGGGCGCCTGGA	0.557													11	99					0.000151284	0.000165917	1	1	0	T	42133259	G	T	42133259	3	4	81	1	0	0	0	0	1	0	0	0	12050	1232	43	5	376	5	PLA2G4B	15	42133259	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	20047	42133259	60398133	10899	14515											
PLA2G4B	100137049	broad.mit.edu	37	15	42138145	42138145	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:42138145C>T	ENST00000542534.2	+	21	2233	c.2193C>T	c.(2191-2193)atC>atT	p.I731I	JMJD7-PLA2G4B_ENST00000382448.4_Silent_p.I731I|PLA2G4B_ENST00000452633.1_Silent_p.I500I|PLA2G4B_ENST00000458483.1_Silent_p.I500I|JMJD7-PLA2G4B_ENST00000342159.4_Silent_p.I731I	NM_005090.3	NP_005081.1			phospholipase A2, group IVB (cytosolic)														all_cancers(109;1.84e-13)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		all cancers(2;1.08e-30)|Epithelial(2;1.43e-22)|OV - Ovarian serous cystadenocarcinoma(18;1.13e-17)|GBM - Glioblastoma multiforme(94;9.77e-07)|Colorectal(2;0.0129)|COAD - Colon adenocarcinoma(120;0.0371)		TTTCAGGTATCTGGAGCAACC	0.612													23	38					0	0	1	0	0	T	42138145	C	T	42138145	2	4	81	1	0	0	0	0	0	0	0	1	12050	903	32	2		2	PLA2G4B	15	42138145	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	4886	42138145	60393247	10900	14516											
SPTBN5	51332	broad.mit.edu	37	15	42151146	42151146	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:42151146C>T	ENST00000320955.6	-	48	8248	c.8021G>A	c.(8020-8022)cGc>cAc	p.R2674H		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	2674					actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		GCGATGGCGGCGGGTCCCGGC	0.706													3	6					0	0	1	0	0	T	42151146	C	T	42151146	3	4	81	1	0	0	0	0	1	0	0	0	15178	768	27	1	3087	1	SPTBN5	15	42151146	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	13001	42151146	60380246	10901	14517											
SPTBN5	51332	broad.mit.edu	37	15	42170634	42170634	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:42170634G>A	ENST00000320955.6	-	17	3603	c.3376C>T	c.(3376-3378)Cgc>Tgc	p.R1126C		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	1126					actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		TCCTTGCTGCGCAGCTGAGCC	0.652													3	13					0	0	1	0	0	A	42170634	G	A	42170634	3	1	81	1	0	0	0	0	1	0	0	0	15178	1087	38	1	7856	1	SPTBN5	15	42170634	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	19488	42170634	60360758	10902	14518											
PLA2G4E	123745	broad.mit.edu	37	15	42300022	42300022	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:42300022C>T	ENST00000399518.3	-	3	784	c.298G>A	c.(298-300)Gcc>Acc	p.A100T	CTD-2382E5.2_ENST00000552704.1_RNA|PLA2G4E_ENST00000413860.2_Missense_Mutation_p.A71T	NM_001206670.1	NP_001193599.1	Q3MJ16	PA24E_HUMAN	phospholipase A2, group IVE	82	C2.				phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|stomach(1)	16		all_cancers(109;8.09e-13)|all_epithelial(112;2.03e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.0273)		OV - Ovarian serous cystadenocarcinoma(18;7.61e-18)|GBM - Glioblastoma multiforme(94;3.07e-06)		TTCTGAGAGGCGGTGGGCAGC	0.502													4	7					0	0	1	0	0	T	42300022	C	T	42300022	3	4	81	1	0	0	0	0	1	0	0	0	12053	768	27	1	2380	1	PLA2G4E	15	42300022	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	129388	42300022	60231370	10903	14519											
PLA2G4D	283748	broad.mit.edu	37	15	42360978	42360978	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:42360978G>A	ENST00000290472.3	-	20	2486	c.2392C>T	c.(2392-2394)Cag>Tag	p.Q798*		NM_178034.3	NP_828848.3	Q86XP0	PA24D_HUMAN	phospholipase A2, group IVD (cytosolic)	798	PLA2c.				phospholipid catabolic process	cytoplasmic vesicle membrane|cytosol	metal ion binding|phospholipase A2 activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245)		OV - Ovarian serous cystadenocarcinoma(18;4.9e-17)|GBM - Glioblastoma multiforme(94;1.02e-06)		CTCAGGGCCTGCAGGATGGCA	0.637													9	12					0	0	1	0	0	A	42360978	G	A	42360978	4	1	81	1	0	0	0	0	0	1	0	0	12052	1328	46	2	68	2	PLA2G4D	15	42360978	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	60956	42360978	60170414	10904	14520											
PLA2G4D	283748	broad.mit.edu	37	15	42371773	42371773	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:42371773G>T	ENST00000290472.3	-	13	1373	c.1279C>A	c.(1279-1281)Ctg>Atg	p.L427M		NM_178034.3	NP_828848.3	Q86XP0	PA24D_HUMAN	phospholipase A2, group IVD (cytosolic)	427	PLA2c.				phospholipid catabolic process	cytoplasmic vesicle membrane|cytosol	metal ion binding|phospholipase A2 activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245)		OV - Ovarian serous cystadenocarcinoma(18;4.9e-17)|GBM - Glioblastoma multiforme(94;1.02e-06)		AGCGCCCACAGGTCCACAAAG	0.697													5	7					0.014758	0.0152304	1	1	0	T	42371773	G	T	42371773	3	4	81	1	0	0	0	0	1	0	0	0	12052	991	35	4	1209	4	PLA2G4D	15	42371773	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	10795	42371773	60159619	10905	14521											
GANC	2595	broad.mit.edu	37	15	42630635	42630635	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:42630635T>A	ENST00000318010.8	+	16	2030	c.1790T>A	c.(1789-1791)aTt>aAt	p.I597N		NM_198141.2	NP_937784.2	Q8TET4	GANC_HUMAN	glucosidase, alpha; neutral C	597					carbohydrate metabolic process		carbohydrate binding|maltose alpha-glucosidase activity			breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_cancers(109;3.08e-16)|all_epithelial(112;7.48e-15)|Lung NSC(122;3.08e-09)|all_lung(180;1.48e-08)|Melanoma(134;0.0574)|Colorectal(260;0.153)		GBM - Glioblastoma multiforme(94;1.06e-06)		AACTTGAAAATTTCTATCCCA	0.423													22	31					0	0	1	0	0	A	42630635	T	A	42630635	3	1	81	1	0	0	0	0	1	0	0	0	6274	1493	52	4	1852	4	GANC	15	42630635	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	258862	42630635	59900757	10906	14522											
GANC	2595	broad.mit.edu	37	15	42638010	42638010	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:42638010A>C	ENST00000318010.8	+	20	2524	c.2284A>C	c.(2284-2286)Atc>Ctc	p.I762L		NM_198141.2	NP_937784.2	Q8TET4	GANC_HUMAN	glucosidase, alpha; neutral C	762					carbohydrate metabolic process		carbohydrate binding|maltose alpha-glucosidase activity			breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_cancers(109;3.08e-16)|all_epithelial(112;7.48e-15)|Lung NSC(122;3.08e-09)|all_lung(180;1.48e-08)|Melanoma(134;0.0574)|Colorectal(260;0.153)		GBM - Glioblastoma multiforme(94;1.06e-06)		TACTGTAAAGATCCCAGTAGC	0.408													43	67					0	0	1	0	0	C	42638010	A	C	42638010	3	2	81	1	0	0	0	0	1	0	0	0	6274	333	12	4	2362	4	GANC	15	42638010	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	7375	42638010	59893382	10907	14523											
GANC	2595	broad.mit.edu	37	15	42640395	42640395	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:42640395G>A	ENST00000318010.8	+	21	2639	c.2399G>A	c.(2398-2400)cGg>cAg	p.R800Q	CAPN3_ENST00000356316.3_5'UTR|RP11-164J13.1_ENST00000495723.1_RNA	NM_198141.2	NP_937784.2	Q8TET4	GANC_HUMAN	glucosidase, alpha; neutral C	800					carbohydrate metabolic process		carbohydrate binding|maltose alpha-glucosidase activity			breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_cancers(109;3.08e-16)|all_epithelial(112;7.48e-15)|Lung NSC(122;3.08e-09)|all_lung(180;1.48e-08)|Melanoma(134;0.0574)|Colorectal(260;0.153)		GBM - Glioblastoma multiforme(94;1.06e-06)		TATGGACTCCGGGTTGCTCTA	0.408													12	17					0	0	1	0	0	A	42640395	G	A	42640395	3	1	81	1	0	0	0	0	1	0	0	0	6274	1116	39	1	2481	1	GANC	15	42640395	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2385	42640395	59890997	10908	14524											
CAPN3	825	broad.mit.edu	37	15	42652026	42652026	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:42652026C>A	ENST00000397163.3	+	1	242	c.23C>A	c.(22-24)tCt>tAt	p.S8Y	CAPN3_ENST00000356316.3_Intron|CAPN3_ENST00000318023.7_Missense_Mutation_p.S8Y|CAPN3_ENST00000349748.3_Missense_Mutation_p.S8Y|RP11-164J13.1_ENST00000495723.1_RNA|CAPN3_ENST00000357568.3_Missense_Mutation_p.S8Y	NM_000070.2	NP_000061.1	P20807	CAN3_HUMAN	calpain 3, (p94)	8					muscle organ development|proteolysis	cytoplasm	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	47		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;7.36e-07)		ATTAGCGCATCTGTGGCTCCA	0.552													10	154					0.0809354	0.0824135	1	1	0	A	42652026	C	A	42652026	3	1	81	1	0	0	0	0	1	0	0	0	2646	913	32	4	77	4	CAPN3	15	42652026	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	11631	42652026	59879366	10909	14525											
CAPN3	825	broad.mit.edu	37	15	42681142	42681142	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:42681142G>A	ENST00000397163.3	+	5	868	c.649G>A	c.(649-651)Gaa>Aaa	p.E217K	CAPN3_ENST00000356316.3_Missense_Mutation_p.E130K|CAPN3_ENST00000318023.7_Missense_Mutation_p.E217K|CAPN3_ENST00000349748.3_Missense_Mutation_p.E217K|RP11-164J13.1_ENST00000495723.1_RNA|CAPN3_ENST00000357568.3_Missense_Mutation_p.E217K	NM_000070.2	NP_000061.1	P20807	CAN3_HUMAN	calpain 3, (p94)	217	Calpain catalytic.		E -> K (in LGMD2A).|Missing (in LGMD2A).		muscle organ development|proteolysis	cytoplasm	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	47		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;7.36e-07)		TGGTTCCTACGAAGCTCTGAA	0.507													39	80					0	0	1	0	0	A	42681142	G	A	42681142	3	1	81	1	0	0	0	0	1	0	0	0	2646	1059	37	1	719	1	CAPN3	15	42681142	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	29116	42681142	59850250	10910	14526											
CDAN1	146059	broad.mit.edu	37	15	43020212	43020212	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:43020212T>C	ENST00000356231.3	-	22	2911	c.2888A>G	c.(2887-2889)aAc>aGc	p.N963S		NM_138477.2	NP_612486.2	Q8IWY9	CDAN1_HUMAN	codanin 1	963						integral to membrane	protein binding			endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	24		all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;2.49e-07)		CACAGCAATGTTCTCTGCACT	0.552													9	224					0	0	1	0	0	C	43020212	T	C	43020212	3	2	81	1	0	0	0	0	1	0	0	0	3076	1725	60	3	823	3	CDAN1	15	43020212	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	339070	43020212	59511180	10911	14527											
CDAN1	146059	broad.mit.edu	37	15	43021271	43021271	+	Silent	SNP	G	G	A	rs139104502	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:43021271G>A	ENST00000356231.3	-	19	2618	c.2595C>T	c.(2593-2595)acC>acT	p.T865T		NM_138477.2	NP_612486.2	Q8IWY9	CDAN1_HUMAN	codanin 1	865						integral to membrane	protein binding			endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	24		all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;2.49e-07)		CGAACTCTACGGTCCGGCGCA	0.562													6	79					0	0	1	0	0	A	43021271	G	A	43021271	2	1	81	1	0	0	0	0	0	0	0	1	3076	1103	39	1		1	CDAN1	15	43021271	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1059	43021271	59510121	10912	14528											
CDAN1	146059	broad.mit.edu	37	15	43023821	43023821	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:43023821C>T	ENST00000356231.3	-	11	1759	c.1736G>A	c.(1735-1737)aGc>aAc	p.S579N		NM_138477.2	NP_612486.2	Q8IWY9	CDAN1_HUMAN	codanin 1	579						integral to membrane	protein binding			endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	24		all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;2.49e-07)		AGCCTACCTGCTGGCACTAAG	0.577													28	49					0	0	1	0	0	T	43023821	C	T	43023821	3	4	81	1	0	0	0	0	1	0	0	0	3076	797	28	2	2019	2	CDAN1	15	43023821	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2550	43023821	59507571	10913	14529											
CDAN1	146059	broad.mit.edu	37	15	43023931	43023931	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:43023931C>T	ENST00000356231.3	-	11	1649	c.1626G>A	c.(1624-1626)ttG>ttA	p.L542L		NM_138477.2	NP_612486.2	Q8IWY9	CDAN1_HUMAN	codanin 1	542						integral to membrane	protein binding			endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	24		all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;2.49e-07)		GTAGGCGCCACAACCGCCCCA	0.632													8	64					0	0	1	0	0	T	43023931	C	T	43023931	2	4	81	1	0	0	0	0	0	0	0	1	3076	477	17	2		2	CDAN1	15	43023931	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	110	43023931	59507461	10914	14530											
CDAN1	146059	broad.mit.edu	37	15	43026474	43026474	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:43026474G>T	ENST00000356231.3	-	7	1230	c.1207C>A	c.(1207-1209)Cca>Aca	p.P403T		NM_138477.2	NP_612486.2	Q8IWY9	CDAN1_HUMAN	codanin 1	403						integral to membrane	protein binding			endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	24		all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;2.49e-07)		TGCAGAGCTGGTGAGAAGCAC	0.562													21	46					2.4624e-09	2.97042e-09	1	1	0	T	43026474	G	T	43026474	3	4	81	1	0	0	0	0	1	0	0	0	3076	1261	44	5	2564	5	CDAN1	15	43026474	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2543	43026474	59504918	10915	14531											
TTBK2	146057	broad.mit.edu	37	15	43045409	43045409	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:43045409A>G	ENST00000267890.6	-	14	2143	c.2035T>C	c.(2035-2037)Tca>Cca	p.S679P		NM_173500.3	NP_775771.3	Q6IQ55	TTBK2_HUMAN	tau tubulin kinase 2	679					cell death		ATP binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;3.23e-07)		CCTGAAGTTGACTGTGTAGAT	0.413													16	24					0	0	1	0	0	G	43045409	A	G	43045409	3	3	81	1	0	0	0	0	1	0	0	0	16739	275	10	3	1707	3	TTBK2	15	43045409	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	18935	43045409	59485983	10916	14532											
TTBK2	146057	broad.mit.edu	37	15	43067512	43067512	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:43067512C>T	ENST00000267890.6	-	13	1927	c.1819G>A	c.(1819-1821)Gat>Aat	p.D607N		NM_173500.3	NP_775771.3	Q6IQ55	TTBK2_HUMAN	tau tubulin kinase 2	607					cell death		ATP binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;3.23e-07)		TTTAAATGATCATTTTCTGCC	0.463													30	86					0	0	1	0	0	T	43067512	C	T	43067512	3	4	81	1	0	0	0	0	1	0	0	0	16739	826	29	2	1927	2	TTBK2	15	43067512	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	22103	43067512	59463880	10917	14533											
TTBK2	146057	broad.mit.edu	37	15	43067672	43067672	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:43067672C>A	ENST00000267890.6	-	13	1767	c.1659G>T	c.(1657-1659)gtG>gtT	p.V553V		NM_173500.3	NP_775771.3	Q6IQ55	TTBK2_HUMAN	tau tubulin kinase 2	553					cell death		ATP binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;3.23e-07)		TGTCCACAATCACCCATTCTT	0.468													29	50					1.68575e-08	2.00735e-08	1	1	0	A	43067672	C	A	43067672	2	1	81	1	0	0	0	0	0	0	0	1	16739	813	29	5		5	TTBK2	15	43067672	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	160	43067672	59463720	10918	14534											
TTBK2	146057	broad.mit.edu	37	15	43075630	43075630	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:43075630A>G	ENST00000267890.6	-	11	1292	c.1184T>C	c.(1183-1185)cTt>cCt	p.L395P	TTBK2_ENST00000567840.1_Missense_Mutation_p.L395P|TTBK2_ENST00000567274.1_Missense_Mutation_p.L360P	NM_173500.3	NP_775771.3	Q6IQ55	TTBK2_HUMAN	tau tubulin kinase 2	395					cell death		ATP binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;3.23e-07)		acaaattccAAGCTTTATCTT	0.438													20	327					0	0	1	0	0	G	43075630	A	G	43075630	3	3	81	1	0	0	0	0	1	0	0	0	16739	72	3	3	2570	3	TTBK2	15	43075630	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	7958	43075630	59455762	10919	14535											
UBR1	197131	broad.mit.edu	37	15	43290423	43290423	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:43290423G>A	ENST00000290650.4	-	33	3778	c.3700C>T	c.(3700-3702)Cgg>Tgg	p.R1234W	UBR1_ENST00000382177.2_3'UTR	NM_174916.2	NP_777576.1	Q8IWV7	UBR1_HUMAN	ubiquitin protein ligase E3 component n-recognin 1	1234					cellular response to leucine|negative regulation of TOR signaling cascade	cytosol	leucine binding|zinc ion binding			NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	58		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)		TGTATCCACCGTGCCAGGGTC	0.348													11	23					0	0	1	0	0	A	43290423	G	A	43290423	3	1	81	1	0	0	0	0	1	0	0	0	16962	1144	40	1	1609	1	UBR1	15	43290423	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	214793	43290423	59240969	10920	14536											
UBR1	197131	broad.mit.edu	37	15	43307949	43307949	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:43307949T>C	ENST00000290650.4	-	29	3224	c.3146A>G	c.(3145-3147)aAa>aGa	p.K1049R	UBR1_ENST00000382177.2_3'UTR|UBR1_ENST00000568782.1_5'UTR	NM_174916.2	NP_777576.1	Q8IWV7	UBR1_HUMAN	ubiquitin protein ligase E3 component n-recognin 1	1049					cellular response to leucine|negative regulation of TOR signaling cascade	cytosol	leucine binding|zinc ion binding			NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	58		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)		ATACATGAGTTTATGAGTTTC	0.373													9	148					0	0	1	0	0	C	43307949	T	C	43307949	3	2	81	1	0	0	0	0	1	0	0	0	16962	1841	64	3	2179	3	UBR1	15	43307949	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	17526	43307949	59223443	10921	14537											
UBR1	197131	broad.mit.edu	37	15	43308006	43308006	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:43308006C>T	ENST00000290650.4	-	29	3167	c.3089G>A	c.(3088-3090)cGc>cAc	p.R1030H	UBR1_ENST00000382177.2_3'UTR|UBR1_ENST00000568782.1_5'UTR	NM_174916.2	NP_777576.1	Q8IWV7	UBR1_HUMAN	ubiquitin protein ligase E3 component n-recognin 1	1030					cellular response to leucine|negative regulation of TOR signaling cascade	cytosol	leucine binding|zinc ion binding			NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	58		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)		GATCTTCTGGCGATGTAGCCT	0.368													34	79					0	0	1	0	0	T	43308006	C	T	43308006	3	4	81	1	0	0	0	0	1	0	0	0	16962	768	27	1	2236	1	UBR1	15	43308006	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	57	43308006	59223386	10922	14538											
UBR1	197131	broad.mit.edu	37	15	43330062	43330062	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:43330062A>G	ENST00000290650.4	-	17	2009	c.1931T>C	c.(1930-1932)gTa>gCa	p.V644A	UBR1_ENST00000382177.2_Missense_Mutation_p.V644A	NM_174916.2	NP_777576.1	Q8IWV7	UBR1_HUMAN	ubiquitin protein ligase E3 component n-recognin 1	644					cellular response to leucine|negative regulation of TOR signaling cascade	cytosol	leucine binding|zinc ion binding			NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	58		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)		TTCCACTAGTACCTCTACTTG	0.418													9	17					0	0	1	0	0	G	43330062	A	G	43330062	3	3	81	1	0	0	0	0	1	0	0	0	16962	391	14	3	3442	3	UBR1	15	43330062	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	22056	43330062	59201330	10923	14539											
UBR1	197131	broad.mit.edu	37	15	43339373	43339373	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:43339373A>G	ENST00000290650.4	-	14	1732	c.1654T>C	c.(1654-1656)Tgg>Cgg	p.W552R	UBR1_ENST00000382177.2_Missense_Mutation_p.W552R	NM_174916.2	NP_777576.1	Q8IWV7	UBR1_HUMAN	ubiquitin protein ligase E3 component n-recognin 1	552					cellular response to leucine|negative regulation of TOR signaling cascade	cytosol	leucine binding|zinc ion binding			NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	58		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)		CAAGCACACCACTCTTGGAAC	0.373													7	182					0	0	1	0	0	G	43339373	A	G	43339373	3	3	81	1	0	0	0	0	1	0	0	0	16962	159	6	3	3731	3	UBR1	15	43339373	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	9311	43339373	59192019	10924	14540											
UBR1	197131	broad.mit.edu	37	15	43350539	43350539	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:43350539C>A	ENST00000290650.4	-	10	1260	c.1182G>T	c.(1180-1182)aaG>aaT	p.K394N	UBR1_ENST00000382177.2_Splice_Site_p.K394N	NM_174916.2	NP_777576.1	Q8IWV7	UBR1_HUMAN	ubiquitin protein ligase E3 component n-recognin 1	394					cellular response to leucine|negative regulation of TOR signaling cascade	cytosol	leucine binding|zinc ion binding			NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	58		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)		AAATAATTACCTTCACAAATT	0.254													4	30					0.00909568	0.00944708	1	1	0	A	43350539	C	A	43350539	5	1	81	1	0	0	0	0	0	0	1	0	16962	695	24	4	4219	4	UBR1	15	43350539	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	11166	43350539	59180853	10925	14541											
TMEM62	80021	broad.mit.edu	37	15	43444011	43444011	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:43444011A>G	ENST00000260403.2	+	8	1169	c.890A>G	c.(889-891)cAc>cGc	p.H297R		NM_024956.3	NP_079232.3	Q0P6H9	TMM62_HUMAN	transmembrane protein 62	297						integral to membrane				breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18		all_cancers(109;1.16e-10)|all_epithelial(112;2.01e-09)|Lung NSC(122;8.91e-07)|all_lung(180;8.8e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;4.23e-07)		GCTTTTGATCACGACCTCTTT	0.373													21	137					0	0	1	0	0	G	43444011	A	G	43444011	3	3	81	1	0	0	0	0	1	0	0	0	16249	159	6	3	920	3	TMEM62	15	43444011	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	93472	43444011	59087381	10926	14542											
CCNDBP1	23582	broad.mit.edu	37	15	43481449	43481449	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:43481449C>T	ENST00000300213.4	+	4	544	c.302C>T	c.(301-303)gCa>gTa	p.A101V	CCNDBP1_ENST00000356633.5_5'UTR|EPB42_ENST00000563128.1_Intron	NM_012142.4	NP_036274.3	O95273	CCDB1_HUMAN	cyclin D-type binding-protein 1	101	Interaction with RPLP0.|Interaction with TCF3.|Required for interaction with CCND1.				cell cycle	cytoplasm|nucleus	protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)	13		all_cancers(109;3.31e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.42e-07)		GCATTTATTGCAGTGTACTAT	0.393													16	34					0	0	1	0	0	T	43481449	C	T	43481449	3	4	81	1	0	0	0	0	1	0	0	0	2941	710	25	2	316	2	CCNDBP1	15	43481449	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	37438	43481449	59049943	10927	14543											
EPB42	2038	broad.mit.edu	37	15	43498536	43498536	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:43498536G>A	ENST00000300215.3	-	10	2157	c.1700C>T	c.(1699-1701)gCc>gTc	p.A567V	EPB42_ENST00000540029.1_Missense_Mutation_p.A459V|EPB42_ENST00000563128.1_5'UTR|EPB42_ENST00000441366.2_Missense_Mutation_p.A537V			P16452	EPB42_HUMAN	erythrocyte membrane protein band 4.2	537					erythrocyte maturation|peptide cross-linking|regulation of cell shape	cytoplasm|cytoskeleton|plasma membrane	ATP binding|protein binding|protein-glutamine gamma-glutamyltransferase activity|structural constituent of cytoskeleton			endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.7e-07)		ACCCAGGTTGGCACTGAGCGT	0.622													13	25					0	0	1	0	0	A	43498536	G	A	43498536	3	1	81	1	0	0	0	0	1	0	0	0	5186	1203	42	2	481	2	EPB42	15	43498536	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	17087	43498536	59032856	10928	14544											
EPB42	2038	broad.mit.edu	37	15	43500847	43500847	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:43500847C>A	ENST00000300215.3	-	7	1506	c.1049G>T	c.(1048-1050)aGa>aTa	p.R350I	EPB42_ENST00000540029.1_Missense_Mutation_p.R242I|EPB42_ENST00000441366.2_Missense_Mutation_p.R320I			P16452	EPB42_HUMAN	erythrocyte membrane protein band 4.2	320				H -> D (in Ref. 1; AAA74589/AAA52385 and 2; AAA35798).	erythrocyte maturation|peptide cross-linking|regulation of cell shape	cytoplasm|cytoskeleton|plasma membrane	ATP binding|protein binding|protein-glutamine gamma-glutamyltransferase activity|structural constituent of cytoskeleton			endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.7e-07)		GATTCTGCCTCTCTGGCCTTC	0.577													71	207					8.87156e-34	1.1868e-33	1	1	0	A	43500847	C	A	43500847	3	1	81	1	0	0	0	0	1	0	0	0	5186	913	32	4	1144	4	EPB42	15	43500847	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2311	43500847	59030545	10929	14545											
EPB42	2038	broad.mit.edu	37	15	43503647	43503647	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:43503647G>A	ENST00000300215.3	-	4	1063	c.606C>T	c.(604-606)gaC>gaT	p.D202D	EPB42_ENST00000540029.1_Silent_p.D94D|EPB42_ENST00000441366.2_Silent_p.D172D			P16452	EPB42_HUMAN	erythrocyte membrane protein band 4.2	172					erythrocyte maturation|peptide cross-linking|regulation of cell shape	cytoplasm|cytoskeleton|plasma membrane	ATP binding|protein binding|protein-glutamine gamma-glutamyltransferase activity|structural constituent of cytoskeleton			endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.7e-07)		CCTGGATGCAGTCAGCTGTAC	0.547													6	75					0	0	1	0	0	A	43503647	G	A	43503647	2	1	81	1	0	0	0	0	0	0	0	1	5186	1020	36	2		2	EPB42	15	43503647	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2800	43503647	59027745	10930	14546											
EPB42	2038	broad.mit.edu	37	15	43512939	43512939	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:43512939C>A	ENST00000300215.3	-	1	542	c.85G>T	c.(85-87)Gga>Tga	p.G29*	EPB42_ENST00000540029.1_Intron|EPB42_ENST00000441366.2_Intron			P16452	EPB42_HUMAN	erythrocyte membrane protein band 4.2	0					erythrocyte maturation|peptide cross-linking|regulation of cell shape	cytoplasm|cytoskeleton|plasma membrane	ATP binding|protein binding|protein-glutamine gamma-glutamyltransferase activity|structural constituent of cytoskeleton	p.G29R(1)		endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.7e-07)		ATCCCACTTCCTTTAATGAAA	0.602													60	85					2.03967e-17	2.6322e-17	1	1	0	A	43512939	C	A	43512939	4	1	81	1	0	0	0	0	0	1	0	0	5186	690	24	4	2132	4	EPB42	15	43512939	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	9292	43512939	59018453	10931	14547											
LCMT2	9836	broad.mit.edu	37	15	43621357	43621357	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:43621357A>G	ENST00000305641.5	-	1	1446	c.1331T>C	c.(1330-1332)tTg>tCg	p.L444S	LCMT2_ENST00000544735.1_Missense_Mutation_p.L23S|LCMT2_ENST00000567039.1_3'UTR	NM_014793.4	NP_055608.2	O60294	LCMT2_HUMAN	leucine carboxyl methyltransferase 2	444					tRNA processing		methyltransferase activity|protein binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|liver(1)|lung(9)|skin(1)|urinary_tract(1)	20		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.1e-07)	L-Leucine(DB00149)	GAGAACCCCCAAGGCTGGACT	0.488													7	73					0	0	1	0	0	G	43621357	A	G	43621357	3	3	81	1	0	0	0	0	1	0	0	0	8718	131	5	3	733	3	LCMT2	15	43621357	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	108418	43621357	58910035	10932	14548											
ZSCAN29	146050	broad.mit.edu	37	15	43658362	43658362	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:43658362C>T	ENST00000396976.2	-	3	1302	c.1168G>A	c.(1168-1170)Gcg>Acg	p.A390T	ZSCAN29_ENST00000568898.1_Intron|ZSCAN29_ENST00000562072.1_Missense_Mutation_p.A389T|ZSCAN29_ENST00000396972.1_Intron	NM_152455.3	NP_689668.3	Q8IWY8	ZSC29_HUMAN	zinc finger and SCAN domain containing 29	390					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(7)|skin(2)	24		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.97e-07)		TGGGGGGTCGCCTCTAGATCC	0.552													30	59					0	0	1	0	0	T	43658362	C	T	43658362	3	4	81	1	0	0	0	0	1	0	0	0	18276	739	26	2	1402	2	ZSCAN29	15	43658362	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	37005	43658362	58873030	10933	14549											
ZSCAN29	146050	broad.mit.edu	37	15	43661813	43661813	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:43661813G>T	ENST00000396976.2	-	1	433	c.299C>A	c.(298-300)cCt>cAt	p.P100H	ZSCAN29_ENST00000568898.1_Missense_Mutation_p.P99H|ZSCAN29_ENST00000562072.1_Missense_Mutation_p.P99H|TUBGCP4_ENST00000570081.1_3'UTR|ZSCAN29_ENST00000396972.1_Missense_Mutation_p.P100H	NM_152455.3	NP_689668.3	Q8IWY8	ZSC29_HUMAN	zinc finger and SCAN domain containing 29	100	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(7)|skin(2)	24		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.97e-07)		AGGTCTTCCAGGCTCTCTTTC	0.463													6	79					2.0095e-06	2.30238e-06	1	1	0	T	43661813	G	T	43661813	3	4	81	1	0	0	0	0	1	0	0	0	18276	1000	35	4	2279	4	ZSCAN29	15	43661813	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	3451	43661813	58869579	10934	14550											
TP53BP1	7158	broad.mit.edu	37	15	43707815	43707815	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:43707815C>T	ENST00000263801.3	-	23	5303	c.5051G>A	c.(5050-5052)cGc>cAc	p.R1684H	TP53BP1_ENST00000382044.4_Missense_Mutation_p.R1689H|TP53BP1_ENST00000382039.3_Missense_Mutation_p.R1639H|TP53BP1_ENST00000450115.2_Missense_Mutation_p.R1689H	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	1684					double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		GGCAGACTTGCGACCTCGCTT	0.498								Other conserved DNA damage response genes					12	91					0	0	1	0	0	T	43707815	C	T	43707815	3	4	81	1	0	0	0	0	1	0	0	0	16444	768	27	1	891	1	TP53BP1	15	43707815	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	46002	43707815	58823577	10935	14551											
MAP1A	4130	broad.mit.edu	37	15	43818558	43818558	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:43818558G>T	ENST00000382031.1	+	5	5632	c.5601G>T	c.(5599-5601)caG>caT	p.Q1867H	MAP1A_ENST00000300231.5_Missense_Mutation_p.Q1629H|MAP1A_ENST00000399453.1_Missense_Mutation_p.Q1629H			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	1629						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	GCCTAGTGCAGGAGGGCAGGG	0.547													5	67					5.9392e-07	6.87481e-07	1	1	0	T	43818558	G	T	43818558	3	4	81	1	0	0	0	0	1	0	0	0	9277	991	35	4	4889	4	MAP1A	15	43818558	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	110743	43818558	58712834	10936	14552											
MAP1A	4130	broad.mit.edu	37	15	43819268	43819268	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:43819268C>A	ENST00000382031.1	+	5	6342	c.6311C>A	c.(6310-6312)cCt>cAt	p.P2104H	MAP1A_ENST00000300231.5_Missense_Mutation_p.P1866H|MAP1A_ENST00000399453.1_Missense_Mutation_p.P1866H			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	1866						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	CCCCCCACACCTGCCCCGGAA	0.652													8	12					0.27861	0.279815	1	1	0	A	43819268	C	A	43819268	3	1	81	1	0	0	0	0	1	0	0	0	9277	681	24	4	5599	4	MAP1A	15	43819268	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	710	43819268	58712124	10937	14553											
MAP1A	4130	broad.mit.edu	37	15	43820241	43820241	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:43820241C>A	ENST00000382031.1	+	5	7315	c.7284C>A	c.(7282-7284)ccC>ccA	p.P2428P	MAP1A_ENST00000300231.5_Silent_p.P2190P|MAP1A_ENST00000399453.1_Silent_p.P2190P			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	2190						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	GCTCGGCACCCTGTGGCTCCC	0.637													11	160					2.27111e-07	2.65192e-07	1	1	0	A	43820241	C	A	43820241	2	1	81	1	0	0	0	0	0	0	0	1	9277	668	24	4		4	MAP1A	15	43820241	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	973	43820241	58711151	10938	14554											
MAP1A	4130	broad.mit.edu	37	15	43821341	43821341	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:43821341G>A	ENST00000382031.1	+	5	8415	c.8384G>A	c.(8383-8385)gGc>gAc	p.G2795D	MAP1A_ENST00000300231.5_Missense_Mutation_p.G2557D|MAP1A_ENST00000399453.1_Missense_Mutation_p.G2557D			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	2557						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	CCCAGGCCTGGCCATGACCCA	0.637													19	21					0	0	1	0	0	A	43821341	G	A	43821341	3	1	81	1	0	0	0	0	1	0	0	0	9277	1203	42	2	7672	2	MAP1A	15	43821341	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1100	43821341	58710051	10939	14555											
PPIP5K1	9677	broad.mit.edu	37	15	43851062	43851062	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:43851062G>A	ENST00000420765.1	-	29	3498	c.3316C>T	c.(3316-3318)Cgt>Tgt	p.R1106C	PPIP5K1_ENST00000381885.1_Missense_Mutation_p.R1102C|PPIP5K1_ENST00000396923.3_Missense_Mutation_p.R1106C|PPIP5K1_ENST00000334933.4_Missense_Mutation_p.R1081C|PPIP5K1_ENST00000360301.4_Missense_Mutation_p.R1081C|PPIP5K1_ENST00000381879.4_Missense_Mutation_p.R1082C|PPIP5K1_ENST00000348806.6_Missense_Mutation_p.R1039C|PPIP5K1_ENST00000360135.4_Missense_Mutation_p.R1039C	NM_001130858.2	NP_001124330.1	Q6PFW1	VIP1_HUMAN	diphosphoinositol pentakisphosphate kinase 1	1106					inositol metabolic process	cytosol	acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity			large_intestine(1)	1						CTCACTTGACGTAGGGAAAGG	0.473													41	43					0	0	1	0	0	A	43851062	G	A	43851062	3	1	81	1	0	0	0	0	1	0	0	0	12381	1145	40	1	1121	1	PPIP5K1	15	43851062	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	29721	43851062	58680330	10940	14556											
MFAP1	4236	broad.mit.edu	37	15	44105185	44105185	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:44105185G>A	ENST00000267812.3	-	6	1119	c.887C>T	c.(886-888)gCg>gTg	p.A296V		NM_005926.2	NP_005917.2	P55081	MFAP1_HUMAN	microfibrillar-associated protein 1	296						microfibril				breast(2)|endometrium(1)|kidney(1)|lung(6)|skin(2)|upper_aerodigestive_tract(3)	15		all_cancers(109;7.57e-15)|all_epithelial(112;3.51e-12)|Lung NSC(122;4.72e-08)|all_lung(180;4.9e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.33e-07)		TTTTACTCACGCTTCTCGATC	0.423													130	201					0	0	1	0	0	A	44105185	G	A	44105185	5	1	81	1	0	0	0	0	0	0	1	0	9563	1101	38	1	448	1	MFAP1	15	44105185	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	254123	44105185	58426207	10941	14557											
MFAP1	4236	broad.mit.edu	37	15	44105297	44105297	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:44105297G>T	ENST00000267812.3	-	6	1007	c.775C>A	c.(775-777)Ctg>Atg	p.L259M		NM_005926.2	NP_005917.2	P55081	MFAP1_HUMAN	microfibrillar-associated protein 1	259						microfibril				breast(2)|endometrium(1)|kidney(1)|lung(6)|skin(2)|upper_aerodigestive_tract(3)	15		all_cancers(109;7.57e-15)|all_epithelial(112;3.51e-12)|Lung NSC(122;4.72e-08)|all_lung(180;4.9e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.33e-07)		AATGCAGCCAGGGATCGCTTG	0.438													67	165					8.21609e-47	1.10532e-46	1	1	0	T	44105297	G	T	44105297	3	4	81	1	0	0	0	0	1	0	0	0	9563	991	35	4	560	4	MFAP1	15	44105297	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	112	44105297	58426095	10942	14558											
MFAP1	4236	broad.mit.edu	37	15	44107158	44107158	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:44107158C>A	ENST00000267812.3	-	3	646	c.414G>T	c.(412-414)gaG>gaT	p.E138D		NM_005926.2	NP_005917.2	P55081	MFAP1_HUMAN	microfibrillar-associated protein 1	138	Poly-Glu.					microfibril				breast(2)|endometrium(1)|kidney(1)|lung(6)|skin(2)|upper_aerodigestive_tract(3)	15		all_cancers(109;7.57e-15)|all_epithelial(112;3.51e-12)|Lung NSC(122;4.72e-08)|all_lung(180;4.9e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.33e-07)		CATCAATTTCCTCCTCCTCTT	0.408													48	85					7.34454e-26	9.73186e-26	1	1	0	A	44107158	C	A	44107158	3	1	81	1	0	0	0	0	1	0	0	0	9563	680	24	4	933	4	MFAP1	15	44107158	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1861	44107158	58424234	10943	14559											
SPG11	80208	broad.mit.edu	37	15	44920947	44920947	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:44920947C>A	ENST00000261866.7	-	10	2003	c.1987G>T	c.(1987-1989)Gat>Tat	p.D663Y	SPG11_ENST00000559193.1_Missense_Mutation_p.D663Y|SPG11_ENST00000535302.2_Missense_Mutation_p.D663Y|SPG11_ENST00000558319.1_Missense_Mutation_p.D663Y|SPG11_ENST00000427534.2_Missense_Mutation_p.D663Y	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	663					cell death	cytosol|integral to membrane|nucleus	protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		TCTATAGCATCTGTTAGCTTC	0.348													6	119					0.0293803	0.0300537	1	1	0	A	44920947	C	A	44920947	3	1	81	1	0	0	0	0	1	0	0	0	15097	913	32	4	5468	4	SPG11	15	44920947	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	813789	44920947	57610445	10944	14560											
TRIM69	140691	broad.mit.edu	37	15	45059499	45059499	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:45059499C>T	ENST00000558173.1	+	5	5165	c.420C>T	c.(418-420)agC>agT	p.S140S	TRIM69_ENST00000338264.4_Silent_p.S185S|TRIM69_ENST00000560442.1_Silent_p.S140S|TRIM69_ENST00000558329.1_Silent_p.S123S|TRIM69_ENST00000329464.4_Silent_p.S344S|TRIM69_ENST00000561043.1_Silent_p.S107S|TRIM69_ENST00000559390.1_Silent_p.S344S			Q86WT6	TRI69_HUMAN	tripartite motif containing 69	344	Necessary for nuclear localization (By similarity).				apoptosis	nuclear speck	zinc ion binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(9)|skin(1)	20		all_cancers(109;2.47e-13)|all_epithelial(112;2.84e-11)|Lung NSC(122;2.23e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)		all cancers(107;5.5e-19)|GBM - Glioblastoma multiforme(94;1.07e-06)|Colorectal(105;0.138)|COAD - Colon adenocarcinoma(120;0.141)		GCCAAACCAGCGTCTGGCATG	0.468													44	58					0	0	1	0	0	T	45059499	C	T	45059499	2	4	81	1	0	0	0	0	0	0	0	1	16603	767	27	1		1	TRIM69	15	45059499	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	138552	45059499	57471893	10945	14561											
SORD	6652	broad.mit.edu	37	15	45361176	45361176	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:45361176G>T	ENST00000267814.9	+	7	892	c.712G>T	c.(712-714)Ggt>Tgt	p.G238C	SORD_ENST00000558580.1_Missense_Mutation_p.G217C	NM_003104.5	NP_003095.2	Q00796	DHSO_HUMAN	sorbitol dehydrogenase	238					fructose biosynthetic process|glucose metabolic process|L-xylitol catabolic process|sorbitol catabolic process|sperm motility	cilium|extracellular space|flagellum|membrane fraction|mitochondrial membrane|soluble fraction	L-iditol 2-dehydrogenase activity|NAD binding|sugar binding|zinc ion binding			endometrium(2)|large_intestine(3)|lung(4)	9		all_cancers(109;3.43e-12)|all_epithelial(112;2.33e-10)|Lung NSC(122;6.01e-07)|all_lung(180;4.38e-06)|Melanoma(134;0.0122)		all cancers(107;1.6e-18)|GBM - Glioblastoma multiforme(94;4.95e-07)|COAD - Colon adenocarcinoma(120;0.0704)|Colorectal(133;0.0706)	NADH(DB00157)	GAAAGTAGAAGGTCAGCTGGG	0.587													3	12					1	1	1	1	0	T	45361176	G	T	45361176	3	4	81	1	0	0	0	0	1	0	0	0	14987	1000	35	4	738	4	SORD	15	45361176	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	301677	45361176	57170216	10946	14562											
DUOX2	50506	broad.mit.edu	37	15	45386444	45386444	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:45386444G>A	ENST00000389039.6	-	34	4936	c.4551C>T	c.(4549-4551)tgC>tgT	p.C1517C	DUOX2_ENST00000603300.1_Silent_p.C1517C			Q9NRD8	DUOX2_HUMAN	dual oxidase 2	1517					cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		CTGGAGGGCCGCAGCTGAACA	0.562													16	19					0	0	1	0	0	A	45386444	G	A	45386444	2	1	81	1	0	0	0	0	0	0	0	1	4827	1079	38	1		1	DUOX2	15	45386444	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	25268	45386444	57144948	10947	14563											
DUOX2	50506	broad.mit.edu	37	15	45392018	45392018	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:45392018G>A	ENST00000389039.6	-	25	3642	c.3257C>T	c.(3256-3258)aCg>aTg	p.T1086M	DUOX2_ENST00000603300.1_Missense_Mutation_p.T1086M			Q9NRD8	DUOX2_HUMAN	dual oxidase 2	1086	Ferric oxidoreductase.|Interaction with TXNDC11 (By similarity).				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		GCTGGCCGCCGTGCCTCGTGA	0.567													9	29					0	0	1	0	0	A	45392018	G	A	45392018	3	1	81	1	0	0	0	0	1	0	0	0	4827	1145	40	1	1429	1	DUOX2	15	45392018	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	5574	45392018	57139374	10948	14564											
DUOX2	50506	broad.mit.edu	37	15	45397995	45397995	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:45397995C>T	ENST00000389039.6	-	18	2565	c.2180G>A	c.(2179-2181)gGc>gAc	p.G727D	DUOX2_ENST00000603300.1_Missense_Mutation_p.G727D			Q9NRD8	DUOX2_HUMAN	dual oxidase 2	727					cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		CACAAAGGCGCCCCGTTCCTC	0.597													26	38					0	0	1	0	0	T	45397995	C	T	45397995	3	4	81	1	0	0	0	0	1	0	0	0	4827	739	26	2	2534	2	DUOX2	15	45397995	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	5977	45397995	57133397	10949	14565											
DUOX2	50506	broad.mit.edu	37	15	45399573	45399573	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:45399573G>T	ENST00000389039.6	-	14	2048	c.1663C>A	c.(1663-1665)Ctg>Atg	p.L555M	DUOX2_ENST00000603300.1_Missense_Mutation_p.L555M			Q9NRD8	DUOX2_HUMAN	dual oxidase 2	555	Peroxidase-like; mediates peroxidase activity (By similarity).				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		TTGGGCTGCAGGGCACTGGGG	0.537													6	105					3.59834e-05	3.99423e-05	1	1	0	T	45399573	G	T	45399573	3	4	81	1	0	0	0	0	1	0	0	0	4827	991	35	4	3067	4	DUOX2	15	45399573	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1578	45399573	57131819	10950	14566											
DUOXA2	405753	broad.mit.edu	37	15	45406895	45406895	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:45406895T>G	ENST00000323030.5	+	1	377	c.92T>G	c.(91-93)tTt>tGt	p.F31C		NM_207581.3	NP_997464.2	Q1HG44	DOXA2_HUMAN	dual oxidase maturation factor 2	31					protein transport	endoplasmic reticulum membrane|integral to membrane							all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;2.88e-18)|GBM - Glioblastoma multiforme(94;3.95e-07)|COAD - Colon adenocarcinoma(120;0.0652)|Colorectal(133;0.0659)		ATTCTAGTGTTTTTGGCTCTA	0.582													22	37					0	0	1	0	0	G	45406895	T	G	45406895	3	3	81	1	0	0	0	0	1	0	0	0	4829	1841	64	5	94	5	DUOXA2	15	45406895	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	7322	45406895	57124497	10951	14567											
DUOXA2	405753	broad.mit.edu	37	15	45408871	45408871	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:45408871T>C	ENST00000323030.5	+	4	783	c.498T>C	c.(496-498)ccT>ccC	p.P166P		NM_207581.3	NP_997464.2	Q1HG44	DOXA2_HUMAN	dual oxidase maturation factor 2	166					protein transport	endoplasmic reticulum membrane|integral to membrane							all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;2.88e-18)|GBM - Glioblastoma multiforme(94;3.95e-07)|COAD - Colon adenocarcinoma(120;0.0652)|Colorectal(133;0.0659)		CGAGTAGCCCTTGCGGCCTGT	0.617													6	40					0	0	1	0	0	C	45408871	T	C	45408871	2	2	81	1	0	0	0	0	0	0	0	1	4829	1596	56	3		3	DUOXA2	15	45408871	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	1976	45408871	57122521	10952	14568											
DUOX1	53905	broad.mit.edu	37	15	45426379	45426379	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:45426379C>T	ENST00000321429.4	+	5	586	c.179C>T	c.(178-180)gCa>gTa	p.A60V	DUOX1_ENST00000389037.3_Missense_Mutation_p.A60V	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	60	Peroxidase-like; mediates peroxidase activity.				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		GCCAGCTATGCAGATGGCGTG	0.632													13	24					0	0	1	0	0	T	45426379	C	T	45426379	3	4	81	1	0	0	0	0	1	0	0	0	4826	710	25	2	189	2	DUOX1	15	45426379	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	17508	45426379	57105013	10953	14569											
DUOX1	53905	broad.mit.edu	37	15	45427309	45427309	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:45427309C>T	ENST00000321429.4	+	6	722	c.315C>T	c.(313-315)caC>caT	p.H105H	DUOX1_ENST00000389037.3_Silent_p.H105H	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	105	Peroxidase-like; mediates peroxidase activity.				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		CAGGCTATCACGTGCTTTCAG	0.617													5	39					0	0	1	0	0	T	45427309	C	T	45427309	2	4	81	1	0	0	0	0	0	0	0	1	4826	535	19	1		1	DUOX1	15	45427309	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	930	45427309	57104083	10954	14570											
DUOX1	53905	broad.mit.edu	37	15	45434273	45434273	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:45434273C>T	ENST00000321429.4	+	16	2192	c.1785C>T	c.(1783-1785)ttC>ttT	p.F595F	DUOX1_ENST00000389037.3_Silent_p.F595F|DUOX1_ENST00000561166.1_Silent_p.F241F	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	595					cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		GATTTGGCTTCGGGGTCACCA	0.577													38	42					0	0	1	0	0	T	45434273	C	T	45434273	2	4	81	1	0	0	0	0	0	0	0	1	4826	883	31	1		1	DUOX1	15	45434273	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	6964	45434273	57097119	10955	14571											
DUOX1	53905	broad.mit.edu	37	15	45440173	45440173	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:45440173G>T	ENST00000321429.4	+	21	3027	c.2620G>T	c.(2620-2622)Gat>Tat	p.D874Y	DUOX1_ENST00000389037.3_Missense_Mutation_p.D874Y|DUOX1_ENST00000561166.1_Missense_Mutation_p.D520Y	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	874	EF-hand 2.				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		CATTTCCAAGGATGAGTTCAT	0.537													27	68					7.76418e-22	1.01822e-21	1	1	0	T	45440173	G	T	45440173	3	4	81	1	0	0	0	0	1	0	0	0	4826	1174	41	5	2694	5	DUOX1	15	45440173	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	5900	45440173	57091219	10956	14572											
DUOX1	53905	broad.mit.edu	37	15	45454097	45454097	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:45454097G>T	ENST00000321429.4	+	31	4425	c.4018G>T	c.(4018-4020)Ggg>Tgg	p.G1340W	DUOX1_ENST00000389037.3_Missense_Mutation_p.G1340W|CTD-2651B20.1_ENST00000558039.1_lincRNA|DUOX1_ENST00000561166.1_Missense_Mutation_p.G986W	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	1340	FAD-binding FR-type.				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		CCGGGCAGCAGGGCCCTGGAC	0.632													6	18					0.0215528	0.0221217	1	1	0	T	45454097	G	T	45454097	3	4	81	1	0	0	0	0	1	0	0	0	4826	1000	35	4	4132	4	DUOX1	15	45454097	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	13924	45454097	57077295	10957	14573											
SQRDL	58472	broad.mit.edu	37	15	45981348	45981348	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:45981348G>T	ENST00000260324.7	+	9	1614	c.1228G>T	c.(1228-1230)Gag>Tag	p.E410*	SQRDL_ENST00000568606.1_Nonsense_Mutation_p.E410*	NM_021199.3	NP_067022.1	Q9Y6N5	SQRD_HUMAN	sulfide quinone reductase-like (yeast)	410							oxidoreductase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	11		Lung NSC(122;0.000117)|all_lung(180;0.000737)|Melanoma(134;0.0417)		all cancers(107;5.89e-18)|GBM - Glioblastoma multiforme(94;1.21e-06)|COAD - Colon adenocarcinoma(120;0.17)|Colorectal(133;0.188)		TCAAAGCAAAGAGCGCCTTTC	0.473													37	60					1.836e-18	2.38158e-18	1	1	0	T	45981348	G	T	45981348	4	4	81	1	0	0	0	0	0	1	0	0	15185	943	33	4	1258	4	SQRDL	15	45981348	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	527251	45981348	56550044	10958	14574											
SEMA6D	80031	broad.mit.edu	37	15	48063276	48063276	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:48063276C>T	ENST00000316364.5	+	19	2955	c.2516C>T	c.(2515-2517)aCg>aTg	p.T839M	SEMA6D_ENST00000358066.4_Missense_Mutation_p.T777M|SEMA6D_ENST00000389433.2_Missense_Mutation_p.T820M|SEMA6D_ENST00000537942.1_Missense_Mutation_p.T777M|SEMA6D_ENST00000389428.3_Missense_Mutation_p.T764M|SEMA6D_ENST00000558014.1_Missense_Mutation_p.T777M|SEMA6D_ENST00000355997.3_3'UTR|SEMA6D_ENST00000558816.1_3'UTR|SEMA6D_ENST00000389432.2_Missense_Mutation_p.T796M|SEMA6D_ENST00000536845.2_Missense_Mutation_p.T839M|SEMA6D_ENST00000354744.4_Missense_Mutation_p.T783M	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	839					axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity			biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		GACTACAACACGTCTTTCTCA	0.458													7	69					0	0	1	0	0	T	48063276	C	T	48063276	3	4	81	1	0	0	0	0	1	0	0	0	14096	536	19	1	2629	1	SEMA6D	15	48063276	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2081928	48063276	54468116	10959	14575											
MYEF2	50804	broad.mit.edu	37	15	48435115	48435115	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:48435115C>T	ENST00000324324.7	-	17	2072	c.1793G>A	c.(1792-1794)cGt>cAt	p.R598H	MYEF2_ENST00000267836.6_Missense_Mutation_p.R574H	NM_016132.3	NP_057216	Q9P2K5	MYEF2_HUMAN	myelin expression factor 2	598	RRM 3.				transcription, DNA-dependent	Golgi apparatus|nucleus	DNA binding|nucleotide binding|RNA binding			endometrium(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31		all_lung(180;0.00217)		all cancers(107;3.73e-10)|GBM - Glioblastoma multiforme(94;7.81e-07)		TTATGCATTACGATCCAAGCG	0.363													13	95					0	0	1	0	0	T	48435115	C	T	48435115	3	4	81	1	0	0	0	0	1	0	0	0	10072	536	19	1	13	1	MYEF2	15	48435115	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	371839	48435115	54096277	10960	14576											
MYEF2	50804	broad.mit.edu	37	15	48443753	48443753	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:48443753G>A	ENST00000324324.7	-	13	1502	c.1223C>T	c.(1222-1224)gCg>gTg	p.A408V	MYEF2_ENST00000267836.6_Missense_Mutation_p.A408V	NM_016132.3	NP_057216	Q9P2K5	MYEF2_HUMAN	myelin expression factor 2	408	Gly-rich.				transcription, DNA-dependent	Golgi apparatus|nucleus	DNA binding|nucleotide binding|RNA binding			endometrium(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31		all_lung(180;0.00217)		all cancers(107;3.73e-10)|GBM - Glioblastoma multiforme(94;7.81e-07)		ACTAGTCATCGCACCACGGTA	0.373													93	155					0	0	1	0	0	A	48443753	G	A	48443753	3	1	81	1	0	0	0	0	1	0	0	0	10072	1087	38	1	599	1	MYEF2	15	48443753	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	8638	48443753	54087639	10961	14577											
FBN1	2200	broad.mit.edu	37	15	48707780	48707780	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:48707780G>A	ENST00000316623.5	-	64	8459	c.8004C>T	c.(8002-8004)ggC>ggT	p.G2668G	FBN1_ENST00000561429.1_5'UTR	NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	2668	EGF-like 47; calcium-binding.		G -> C (in MFS).		heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding	p.G2668G(1)		NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		ACAGGTAACCGCCCTCGGTAT	0.522													25	53					0	0	1	0	0	A	48707780	G	A	48707780	2	1	81	1	0	0	0	0	0	0	0	1	5735	1074	38	1		1	FBN1	15	48707780	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	264027	48707780	53823612	10962	14578											
FBN1	2200	broad.mit.edu	37	15	48714159	48714159	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:48714159C>T	ENST00000316623.5	-	61	8015	c.7560G>A	c.(7558-7560)acG>acA	p.T2520T		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	2520	EGF-like 43; calcium-binding.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		CAATGCAGGACGTATGGTGTT	0.428													13	36					0	0	1	0	0	T	48714159	C	T	48714159	2	4	81	1	0	0	0	0	0	0	0	1	5735	523	19	1		1	FBN1	15	48714159	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	6379	48714159	53817233	10963	14579											
FBN1	2200	broad.mit.edu	37	15	48802279	48802279	+	Missense_Mutation	SNP	G	G	A	rs141551765	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:48802279G>A	ENST00000316623.5	-	14	2131	c.1676C>T	c.(1675-1677)gCg>gTg	p.A559V		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	559	EGF-like 8; calcium-binding.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		ATGAAAGCCCGCATTACACAC	0.408													16	55					0	0	1	0	0	A	48802279	G	A	48802279	3	1	81	1	0	0	0	0	1	0	0	0	5735	1087	38	1	7151	1	FBN1	15	48802279	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	88120	48802279	53729113	10964	14580											
FBN1	2200	broad.mit.edu	37	15	48829911	48829911	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:48829911G>T	ENST00000316623.5	-	7	1088	c.633C>A	c.(631-633)gcC>gcA	p.A211A		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	211	TB 1.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		GGCCGACTGTGGCACAGCAGA	0.577													12	83					4.3838e-07	5.09097e-07	1	1	0	T	48829911	G	T	48829911	2	4	81	1	0	0	0	0	0	0	0	1	5735	1335	47	5		5	FBN1	15	48829911	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	27632	48829911	53701481	10965	14581											
FBN1	2200	broad.mit.edu	37	15	48905269	48905269	+	Missense_Mutation	SNP	C	C	T	rs145942328		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:48905269C>T	ENST00000316623.5	-	3	640	c.185G>A	c.(184-186)cGt>cAt	p.R62H		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	62			R -> C (in MFS; also in a patient with ectopia lentis and retinal detachment; dbSNP:rs25403).		heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding	p.R62H(1)		NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		AGCATTATAACGTGATCCACA	0.358													8	89					0	0	1	0	0	T	48905269	C	T	48905269	3	4	81	1	0	0	0	0	1	0	0	0	5735	536	19	1	8686	1	FBN1	15	48905269	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	75358	48905269	53626123	10966	14582											
CEP152	22995	broad.mit.edu	37	15	49048132	49048132	+	Missense_Mutation	SNP	G	G	T	rs74553953		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:49048132G>T	ENST00000380950.2	-	20	3500	c.3313C>A	c.(3313-3315)Ctt>Att	p.L1105I	CEP152_ENST00000399334.3_Missense_Mutation_p.L1105I|CEP152_ENST00000325747.5_Missense_Mutation_p.L1012I	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	1105					centrosome duplication|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein kinase binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		TTTTCTACAAGCAGAGGAAGT	0.368													49	85					9.52127e-25	1.25784e-24	1	1	0	T	49048132	G	T	49048132	3	4	81	1	0	0	0	0	1	0	0	0	3270	971	34	4	1679	4	CEP152	15	49048132	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	142863	49048132	53483260	10967	14583											
SECISBP2L	9728	broad.mit.edu	37	15	49309099	49309099	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:49309099G>A	ENST00000559471.1	-	10	1628	c.1365C>T	c.(1363-1365)gcC>gcT	p.A455A	SECISBP2L_ENST00000261847.3_Silent_p.A410A	NM_001193489.1	NP_001180418.1	Q93073	SBP2L_HUMAN	SECIS binding protein 2-like	455										breast(1)|endometrium(5)|kidney(8)|large_intestine(12)|lung(11)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	46						CTGTGGCAAGGGCTGCTGCTA	0.368													32	44					0	0	1	0	0	A	49309099	G	A	49309099	2	1	81	1	0	0	0	0	0	0	0	1	14061	1219	43	2		2	SECISBP2L	15	49309099	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	260967	49309099	53222293	10968	14584											
SECISBP2L	9728	broad.mit.edu	37	15	49327791	49327791	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:49327791A>G	ENST00000559471.1	-	3	531	c.268T>C	c.(268-270)Tac>Cac	p.Y90H	SECISBP2L_ENST00000261847.3_Missense_Mutation_p.Y90H	NM_001193489.1	NP_001180418.1	Q93073	SBP2L_HUMAN	SECIS binding protein 2-like	90										breast(1)|endometrium(5)|kidney(8)|large_intestine(12)|lung(11)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	46						TAGGCAAAGTATGGTCCAGTA	0.403													40	57					0	0	1	0	0	G	49327791	A	G	49327791	3	3	81	1	0	0	0	0	1	0	0	0	14061	449	16	3	2962	3	SECISBP2L	15	49327791	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	18692	49327791	53203601	10969	14585											
COPS2	9318	broad.mit.edu	37	15	49426260	49426260	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:49426260G>A	ENST00000388901.5	-	8	834	c.761C>T	c.(760-762)gCa>gTa	p.A254V	COPS2_ENST00000299259.6_Missense_Mutation_p.A261V|COPS2_ENST00000542928.1_Missense_Mutation_p.A190V	NM_001143887.1|NM_004236.3	NP_001137359.1|NP_004227.1	P61201	CSN2_HUMAN	COP9 signalosome subunit 2	254	PCI.				cullin deneddylation|transcription from RNA polymerase II promoter	cytoplasm|signalosome	protein binding|signal transducer activity			cervix(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|prostate(1)|skin(2)	18		all_lung(180;0.0428)		all cancers(107;1.34e-07)|GBM - Glioblastoma multiforme(94;3.02e-05)		ATCAGTGTGTGCCTTTTCAAA	0.343													26	44					0	0	1	0	0	A	49426260	G	A	49426260	3	1	81	1	0	0	0	0	1	0	0	0	3756	1319	46	2	594	2	COPS2	15	49426260	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	98469	49426260	53105132	10970	14586											
ATP8B4	79895	broad.mit.edu	37	15	50215583	50215583	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:50215583T>G	ENST00000284509.6	-	17	1892	c.1751A>C	c.(1750-1752)cAc>cCc	p.H584P	ATP8B4_ENST00000559829.1_Missense_Mutation_p.H584P	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	584					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		TACACTGAGGTGGTCTGACGT	0.403													16	32					0	0	1	0	0	G	50215583	T	G	50215583	3	3	81	1	0	0	0	0	1	0	0	0	1195	1696	59	5	1875	5	ATP8B4	15	50215583	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	789323	50215583	52315809	10971	14587											
ATP8B4	79895	broad.mit.edu	37	15	50279715	50279715	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:50279715C>A	ENST00000284509.6	-	10	762	c.621G>T	c.(619-621)aaG>aaT	p.K207N	ATP8B4_ENST00000559829.1_Missense_Mutation_p.K207N|ATP8B4_ENST00000558959.1_5'UTR	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	207					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		ATTTATCTAACTTGTTGTTAG	0.403													7	70					0.00198382	0.00209725	1	1	0	A	50279715	C	A	50279715	3	1	81	1	0	0	0	0	1	0	0	0	1195	564	20	4	3033	4	ATP8B4	15	50279715	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	64132	50279715	52251677	10972	14588											
HDC	3067	broad.mit.edu	37	15	50555543	50555543	+	Silent	SNP	C	C	T	rs139287451	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:50555543C>T	ENST00000267845.3	-	2	495	c.93G>A	c.(91-93)acG>acA	p.T31T	HDC_ENST00000543581.1_Silent_p.T31T	NM_002112.3	NP_002103.2	P19113	DCHS_HUMAN	histidine decarboxylase	31			T -> M (in dbSNP:rs17740607).		catecholamine biosynthetic process|histidine metabolic process		histidine decarboxylase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		all_lung(180;0.0138)		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)	L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114)	GCACGTCTGGCGTCACACGTC	0.562													27	34					0	0	1	0	0	T	50555543	C	T	50555543	2	4	81	1	0	0	0	0	0	0	0	1	7056	755	27	1		1	HDC	15	50555543	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	275828	50555543	51975849	10973	14589											
GABPB1	2553	broad.mit.edu	37	15	50570866	50570866	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:50570866G>A	ENST00000380877.3	-	9	1538	c.1115C>T	c.(1114-1116)gCt>gTt	p.A372V	GABPB1_ENST00000543881.1_Missense_Mutation_p.A308V|GABPB1_ENST00000220429.8_Missense_Mutation_p.A384V	NM_005254.5|NM_016654.4	NP_005245.2|NP_057738.1	Q06547	GABP1_HUMAN	GA binding protein transcription factor, beta subunit 1	384					positive regulation of transcription from RNA polymerase II promoter	nucleus	protein binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			cervix(1)|endometrium(1)|large_intestine(7)|lung(5)	14						ACGAGTCATAGCTTCCAACTT	0.378													41	60					0	0	1	0	0	A	50570866	G	A	50570866	3	1	81	1	0	0	0	0	1	0	0	0	6193	971	34	2	40	2	GABPB1	15	50570866	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	15323	50570866	51960526	10974	14590											
GABPB1	2553	broad.mit.edu	37	15	50570879	50570879	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:50570879G>A	ENST00000380877.3	-	9	1525	c.1102C>T	c.(1102-1104)Cag>Tag	p.Q368*	GABPB1_ENST00000543881.1_Nonsense_Mutation_p.Q304*|GABPB1_ENST00000220429.8_Nonsense_Mutation_p.Q380*	NM_005254.5|NM_016654.4	NP_005245.2|NP_057738.1	Q06547	GABP1_HUMAN	GA binding protein transcription factor, beta subunit 1	380					positive regulation of transcription from RNA polymerase II promoter	nucleus	protein binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			cervix(1)|endometrium(1)|large_intestine(7)|lung(5)	14						TCCAACTTCTGTCTGTAGGCC	0.383													10	86					0	0	1	0	0	A	50570879	G	A	50570879	4	1	81	1	0	0	0	0	0	1	0	0	6193	1386	48	2	53	2	GABPB1	15	50570879	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	13	50570879	51960513	10975	14591											
GABPB1	2553	broad.mit.edu	37	15	50595196	50595196	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:50595196C>A	ENST00000380877.3	-	4	824	c.401G>T	c.(400-402)aGt>aTt	p.S134I	GABPB1_ENST00000396464.3_Missense_Mutation_p.S134I|GABPB1_ENST00000543881.1_Missense_Mutation_p.S58I|GABPB1_ENST00000429662.2_Missense_Mutation_p.S134I|GABPB1_ENST00000560825.1_Missense_Mutation_p.S134I|GABPB1_ENST00000220429.8_Missense_Mutation_p.S134I|GABPB1_ENST00000359031.4_Missense_Mutation_p.S134I	NM_005254.5|NM_016654.4	NP_005245.2|NP_057738.1	Q06547	GABP1_HUMAN	GA binding protein transcription factor, beta subunit 1	134					positive regulation of transcription from RNA polymerase II promoter	nucleus	protein binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			cervix(1)|endometrium(1)|large_intestine(7)|lung(5)	14						ACAAAATTTACTTTGCGTGTG	0.333													7	60					0.00198382	0.00209725	1	1	0	A	50595196	C	A	50595196	3	1	81	1	0	0	0	0	1	0	0	0	6193	565	20	4	858	4	GABPB1	15	50595196	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	24317	50595196	51936196	10976	14592											
USP8	9101	broad.mit.edu	37	15	50769490	50769490	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:50769490T>C	ENST00000433963.1	+	11	1512	c.1012T>C	c.(1012-1014)Tca>Cca	p.S338P	USP8_ENST00000307179.4_Missense_Mutation_p.S338P|USP8_ENST00000425032.3_Missense_Mutation_p.S261P|USP8_ENST00000396444.3_Missense_Mutation_p.S338P			P40818	UBP8_HUMAN	ubiquitin specific peptidase 8	338					cell cycle|cell proliferation|endosome organization|protein K48-linked deubiquitination|protein K63-linked deubiquitination|ubiquitin-dependent protein catabolic process	cytosol|early endosome|extrinsic to plasma membrane|nucleus	cysteine-type endopeptidase activity|SH3 domain binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)		TACTTATCCCTCATTGGAAGA	0.348													10	27					0	0	1	0	0	C	50769490	T	C	50769490	3	2	81	1	0	0	0	0	1	0	0	0	17149	1551	54	3	1046	3	USP8	15	50769490	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	174294	50769490	51761902	10977	14593											
USP8	9101	broad.mit.edu	37	15	50784986	50784986	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:50784986G>A	ENST00000433963.1	+	16	2823	c.2323G>A	c.(2323-2325)Gct>Act	p.A775T	USP8_ENST00000307179.4_Missense_Mutation_p.A775T|USP8_ENST00000425032.3_Missense_Mutation_p.A669T|USP8_ENST00000396444.3_Missense_Mutation_p.A775T			P40818	UBP8_HUMAN	ubiquitin specific peptidase 8	775					cell cycle|cell proliferation|endosome organization|protein K48-linked deubiquitination|protein K63-linked deubiquitination|ubiquitin-dependent protein catabolic process	cytosol|early endosome|extrinsic to plasma membrane|nucleus	cysteine-type endopeptidase activity|SH3 domain binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)		TTCTGGACCAGCTCTTACTGG	0.413													8	107					0	0	1	0	0	A	50784986	G	A	50784986	3	1	81	1	0	0	0	0	1	0	0	0	17149	971	34	2	2377	2	USP8	15	50784986	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	15496	50784986	51746406	10978	14594											
TRPM7	54822	broad.mit.edu	37	15	50897065	50897065	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:50897065T>G	ENST00000313478.7	-	21	3267	c.2986A>C	c.(2986-2988)Atg>Ctg	p.M996L	TRPM7_ENST00000560955.1_Missense_Mutation_p.M996L	NM_017672.4	NP_060142.3	Q96QT4	TRPM7_HUMAN	transient receptor potential cation channel, subfamily M, member 7	996					cell death	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3)	52				all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)		CAACTTACCATTTTTCCAATC	0.289													5	27					0	0	1	0	0	G	50897065	T	G	50897065	3	3	81	1	0	0	0	0	1	0	0	0	16652	1493	52	4	2687	4	TRPM7	15	50897065	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	112079	50897065	51634327	10979	14595											
TRPM7	54822	broad.mit.edu	37	15	50950006	50950006	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:50950006C>A	ENST00000313478.7	-	3	375	c.94G>T	c.(94-96)Gga>Tga	p.G32*	TRPM7_ENST00000560955.1_Nonsense_Mutation_p.G32*	NM_017672.4	NP_060142.3	Q96QT4	TRPM7_HUMAN	transient receptor potential cation channel, subfamily M, member 7	32					cell death	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3)	52				all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)		ATTTGACATCCTGGAAGGCAT	0.259													4	40					0.000602214	0.000646338	1	1	0	A	50950006	C	A	50950006	4	1	81	1	0	0	0	0	0	1	0	0	16652	690	24	4	5651	4	TRPM7	15	50950006	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	52941	50950006	51581386	10980	14596											
SPPL2A	84888	broad.mit.edu	37	15	51031993	51031993	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:51031993C>A	ENST00000261854.5	-	6	891	c.617G>T	c.(616-618)aGa>aTa	p.R206I		NM_032802.3	NP_116191.2	Q8TCT8	PSL2_HUMAN	signal peptide peptidase like 2A	206						integral to membrane	aspartic-type endopeptidase activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	15				all cancers(107;0.000712)|GBM - Glioblastoma multiforme(94;0.00314)		CCTCATTTCTCTATCTTCAGT	0.318													5	29					0.014758	0.0152304	1	1	0	A	51031993	C	A	51031993	3	1	81	1	0	0	0	0	1	0	0	0	15144	913	32	4	985	4	SPPL2A	15	51031993	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	81987	51031993	51499399	10981	14597											
AP4E1	23431	broad.mit.edu	37	15	51242130	51242130	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:51242130C>T	ENST00000261842.5	+	12	1530	c.1424C>T	c.(1423-1425)gCg>gTg	p.A475V	AP4E1_ENST00000560508.1_Missense_Mutation_p.A400V	NM_001252127.1|NM_007347.4	NP_001239056.1|NP_031373.2	Q9UPM8	AP4E1_HUMAN	adaptor-related protein complex 4, epsilon 1 subunit	475					intracellular protein transport|vesicle-mediated transport	COPI vesicle coat	binding|structural molecule activity			breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(5)|skin(2)	27				all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364)		AGACTACTAGCGGAAGGTTGG	0.328													40	62					0	0	1	0	0	T	51242130	C	T	51242130	3	4	81	1	0	0	0	0	1	0	0	0	748	768	27	1	1470	1	AP4E1	15	51242130	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	210137	51242130	51289262	10982	14598											
DMXL2	23312	broad.mit.edu	37	15	51772245	51772245	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:51772245A>G	ENST00000251076.5	-	25	6943	c.6656T>C	c.(6655-6657)aTa>aCa	p.I2219T	RP11-707P17.1_ENST00000561007.1_RNA|DMXL2_ENST00000449909.3_Missense_Mutation_p.I1583T|DMXL2_ENST00000543779.2_Missense_Mutation_p.I2219T	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	2219						cell junction|synaptic vesicle membrane	Rab GTPase binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		AGGATTAGCTATGACTGTTTT	0.408													20	98					0	0	1	0	0	G	51772245	A	G	51772245	3	3	81	1	0	0	0	0	1	0	0	0	4623	449	16	3	2533	3	DMXL2	15	51772245	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	530115	51772245	50759147	10983	14599											
DMXL2	23312	broad.mit.edu	37	15	51828821	51828821	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:51828821C>T	ENST00000251076.5	-	12	2143	c.1856G>A	c.(1855-1857)gGt>gAt	p.G619D	DMXL2_ENST00000449909.3_Missense_Mutation_p.G619D|DMXL2_ENST00000543779.2_Missense_Mutation_p.G619D	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	619						cell junction|synaptic vesicle membrane	Rab GTPase binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		ATTTAAAGAACCATCTATGTG	0.418													6	80					0	0	1	0	0	T	51828821	C	T	51828821	3	4	81	1	0	0	0	0	1	0	0	0	4623	507	18	2	7385	2	DMXL2	15	51828821	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	56576	51828821	50702571	10984	14600											
SCG3	29106	broad.mit.edu	37	15	51975415	51975415	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:51975415G>T	ENST00000220478.3	+	4	584		c.e4-1		SCG3_ENST00000542355.2_Splice_Site	NM_013243.3	NP_037375.2	Q8WXD2	SCG3_HUMAN	secretogranin III						platelet activation|platelet degranulation	extracellular region|stored secretory granule				breast(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21				all cancers(107;0.00488)		TATTCTTCCAGAAAACAAGCC	0.343													21	228					7.87624e-14	9.96214e-14	1	1	0	T	51975415	G	T	51975415	5	4	81	1	0	0	0	0	0	0	1	0	13945	956	33	4	195	4	SCG3	15	51975415	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	146594	51975415	50555977	10985	14601											
SCG3	29106	broad.mit.edu	37	15	51984486	51984486	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:51984486T>C	ENST00000220478.3	+	7	1224	c.821T>C	c.(820-822)cTc>cCc	p.L274P	SCG3_ENST00000542355.2_Missense_Mutation_p.L42P	NM_013243.3	NP_037375.2	Q8WXD2	SCG3_HUMAN	secretogranin III	274				EEL -> RDF (in Ref. 1; AAD44483).	platelet activation|platelet degranulation	extracellular region|stored secretory granule				breast(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21				all cancers(107;0.00488)		TTTGAGGAACTCCAATATTTC	0.383													6	93					0	0	1	0	0	C	51984486	T	C	51984486	3	2	81	1	0	0	0	0	1	0	0	0	13945	1551	54	3	847	3	SCG3	15	51984486	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	9071	51984486	50546906	10986	14602											
TMOD2	29767	broad.mit.edu	37	15	52060587	52060587	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:52060587C>T	ENST00000249700.4	+	3	476	c.255C>T	c.(253-255)gaC>gaT	p.D85D	TMOD2_ENST00000435126.2_Silent_p.D85D|TMOD2_ENST00000539962.2_Silent_p.D41D	NM_001142885.1|NM_014548.3	NP_001136357.1|NP_055363.1	Q9NZR1	TMOD2_HUMAN	tropomodulin 2 (neuronal)	85					nervous system development	cytoplasm|cytoskeleton	actin binding|tropomyosin binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	16				all cancers(107;0.00435)		ACAGAGAGGACTTTGTGCCCT	0.502													8	20					0	0	1	0	0	T	52060587	C	T	52060587	2	4	81	1	0	0	0	0	0	0	0	1	16294	564	20	2		2	TMOD2	15	52060587	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	76101	52060587	50470805	10987	14603											
TMOD3	29766	broad.mit.edu	37	15	52181338	52181338	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:52181338T>G	ENST00000308580.7	+	5	773	c.492T>G	c.(490-492)ttT>ttG	p.F164L	RP11-56B16.5_ENST00000558142.1_RNA|TMOD3_ENST00000544199.1_Missense_Mutation_p.F164L	NM_014547.4	NP_055362.1	Q9NYL9	TMOD3_HUMAN	tropomodulin 3 (ubiquitous)	164						cytoplasm|cytoskeleton	actin binding|tropomyosin binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|stomach(1)	14				all cancers(107;0.00194)		AAGAACATTTTTCAAGTGAGT	0.299													21	34					0	0	1	0	0	G	52181338	T	G	52181338	3	3	81	1	0	0	0	0	1	0	0	0	16295	1838	64	5	506	5	TMOD3	15	52181338	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	120751	52181338	50350054	10988	14604											
LEO1	123169	broad.mit.edu	37	15	52242105	52242105	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:52242105G>A	ENST00000299601.5	-	10	1758	c.1698C>T	c.(1696-1698)agC>agT	p.S566S	LEO1_ENST00000315141.5_Silent_p.S506S	NM_138792.2	NP_620147.1	Q8WVC0	LEO1_HUMAN	Leo1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)	566					histone H2B ubiquitination|histone monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|skin(1)	14				all cancers(107;0.00264)		GGTAACTGGCGCTCAGCCCCC	0.517													19	42					0	0	1	0	0	A	52242105	G	A	52242105	2	1	81	1	0	0	0	0	0	0	0	1	8765	1078	38	1		1	LEO1	15	52242105	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	60767	52242105	50289287	10989	14605											
BCL2L10	10017	broad.mit.edu	37	15	52402056	52402056	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:52402056G>A	ENST00000260442.3	-	2	652	c.604C>T	c.(604-606)Cga>Tga	p.R202*	BCL2L10_ENST00000561198.1_Missense_Mutation_p.T225M	NM_020396.2	NP_065129.1	Q9HD36	B2L10_HUMAN	BCL2-like 10 (apoptosis facilitator)	192					activation of caspase activity|anti-apoptosis|female gamete generation|spermatogenesis	cytosol|integral to membrane|membrane fraction|mitochondrion|nuclear membrane	protein binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)	2				all cancers(107;0.0148)		CATAATAATCGTGTCCAGAGA	0.433													102	151					0	0	1	0	0	A	52402056	G	A	52402056	4	1	81	1	0	0	0	0	0	1	0	0	1366	1153	40	1	14	1	BCL2L10	15	52402056	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	159951	52402056	50129336	10990	14606											
GNB5	10681	broad.mit.edu	37	15	52446271	52446271	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:52446271G>A	ENST00000261837.7	-	4	306	c.241C>T	c.(241-243)Cac>Tac	p.H81Y	GNB5_ENST00000560116.1_Missense_Mutation_p.H39Y|GNB5_ENST00000396335.4_Missense_Mutation_p.H39Y|GNB5_ENST00000358784.7_Missense_Mutation_p.H39Y	NM_016194.3	NP_057278.2	O14775	GBB5_HUMAN	guanine nucleotide binding protein (G protein), beta 5	81						heterotrimeric G-protein complex	GTPase activity|signal transducer activity			large_intestine(1)|lung(1)	2				all cancers(107;0.0163)		GCCACCTGGTGCACTGGAATG	0.592													12	6					0	0	1	0	0	A	52446271	G	A	52446271	3	1	81	1	0	0	0	0	1	0	0	0	6563	1319	46	2	986	2	GNB5	15	52446271	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	44215	52446271	50085121	10991	14607											
MYO5C	55930	broad.mit.edu	37	15	52539740	52539740	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:52539740G>T	ENST00000261839.7	-	15	1957	c.1796C>A	c.(1795-1797)cCt>cAt	p.P599H	MYO5C_ENST00000443683.2_3'UTR	NM_018728.3	NP_061198.2	Q9NQX4	MYO5C_HUMAN	myosin VC	599	Myosin head-like.					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		TGAACCAAAAGGAGAAGGAGG	0.438													8	74					0.000157383	0.000171784	1	1	0	T	52539740	G	T	52539740	3	4	81	1	0	0	0	0	1	0	0	0	10128	1000	35	4	3540	4	MYO5C	15	52539740	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	93469	52539740	49991652	10992	14608											
MYO5A	4644	broad.mit.edu	37	15	52605916	52605916	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:52605916G>A	ENST00000399231.3	-	41	5788	c.5545C>T	c.(5545-5547)Ctg>Ttg	p.L1849L	MYO5A_ENST00000356338.6_Silent_p.L1822L|MYO5A_ENST00000553916.1_Silent_p.L1847L|MYO5A_ENST00000358212.6_Silent_p.L1874L|MYO5A_ENST00000399233.2_Silent_p.L1846L	NM_000259.3	NP_000250	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)	1849					actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		ATGAAGCCCAGGCCGAGGCTG	0.463													5	47					0	0	1	0	0	A	52605916	G	A	52605916	2	1	81	1	0	0	0	0	0	0	0	1	10126	991	35	2		2	MYO5A	15	52605916	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	66176	52605916	49925476	10993	14609											
MYO5A	4644	broad.mit.edu	37	15	52613635	52613635	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:52613635C>T	ENST00000399231.3	-	37	5040	c.4797G>A	c.(4795-4797)cgG>cgA	p.R1599R	MYO5A_ENST00000356338.6_Silent_p.R1572R|MYO5A_ENST00000553916.1_Silent_p.R1597R|MYO5A_ENST00000358212.6_Silent_p.R1624R|MYO5A_ENST00000399233.2_Silent_p.R1596R	NM_000259.3	NP_000250	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)	1599	Dilute.				actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		TCAGCACCTGCCGATACTCAG	0.502													45	51					0	0	1	0	0	T	52613635	C	T	52613635	2	4	81	1	0	0	0	0	0	0	0	1	10126	726	26	2		2	MYO5A	15	52613635	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	7719	52613635	49917757	10994	14610											
MYO5A	4644	broad.mit.edu	37	15	52671910	52671910	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:52671910delA	ENST00000399231.3	-	18	2363	c.2120delT	c.(2119-2121)ttcfs	p.F707fs	MYO5A_ENST00000356338.6_Frame_Shift_Del_p.F707fs|MYO5A_ENST00000553916.1_Frame_Shift_Del_p.F707fs|MYO5A_ENST00000358212.6_Frame_Shift_Del_p.F707fs|MYO5A_ENST00000399233.2_Frame_Shift_Del_p.F707fs	NM_000259.3	NP_000250	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)	707	Myosin head-like.				actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		GTAGCGGCTGAAAAATTCTTG	0.388													49	107	---	---	---	---						-	52671910	A	-	52671910	7	5	81	1	0	1	0	1	0	0	0	0	10126	246	9	0	3543	0	MYO5A	15	52671910	Frame_Shift_Del	DEL	A	TCGA-DU-6392-01A-11D-1705-08	58275	52671910	49859482	10995	14611											
WDR72	256764	broad.mit.edu	37	15	53907678	53907678	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:53907678A>C	ENST00000396328.1	-	15	2964	c.2725T>G	c.(2725-2727)Ttt>Gtt	p.F909V	WDR72_ENST00000557913.1_Missense_Mutation_p.F906V|WDR72_ENST00000559418.1_Missense_Mutation_p.F919V|WDR72_ENST00000360509.5_Missense_Mutation_p.F909V	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	909										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		TTAACTAAAAATAGTCTGCTC	0.333													20	24					0	0	1	0	0	C	53907678	A	C	53907678	3	2	81	1	0	0	0	0	1	0	0	0	17382	101	4	4	607	4	WDR72	15	53907678	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	1235768	53907678	48623714	10996	14612											
WDR72	256764	broad.mit.edu	37	15	53957930	53957930	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:53957930G>A	ENST00000396328.1	-	14	2040	c.1801C>T	c.(1801-1803)Cga>Tga	p.R601*	WDR72_ENST00000557913.1_Nonsense_Mutation_p.R598*|WDR72_ENST00000559418.1_Nonsense_Mutation_p.R611*|WDR72_ENST00000360509.5_Nonsense_Mutation_p.R601*	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	601										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		AGAATAATTCGTGCTCTTTCT	0.383													17	42					0	0	1	0	0	A	53957930	G	A	53957930	4	1	81	1	0	0	0	0	0	1	0	0	17382	1153	40	1	1535	1	WDR72	15	53957930	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	50252	53957930	48573462	10997	14613											
UNC13C	440279	broad.mit.edu	37	15	54305610	54305610	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:54305610G>T	ENST00000545554.1	+	1	510	c.510G>T	c.(508-510)gaG>gaT	p.E170D	UNC13C_ENST00000537900.1_Missense_Mutation_p.E170D|UNC13C_ENST00000260323.11_Missense_Mutation_p.E170D			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	170					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		CTGACGGGGAGCGTACTCTAC	0.473													16	81					1.45105e-14	1.84293e-14	1	1	0	T	54305610	G	T	54305610	3	4	81	1	0	0	0	0	1	0	0	0	17046	962	34	4	512	4	UNC13C	15	54305610	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	347680	54305610	48225782	10998	14614											
UNC13C	440279	broad.mit.edu	37	15	54307635	54307635	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:54307635T>C	ENST00000545554.1	+	1	2535	c.2535T>C	c.(2533-2535)agT>agC	p.S845S	UNC13C_ENST00000537900.1_Silent_p.S845S|UNC13C_ENST00000260323.11_Silent_p.S845S			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	845					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		ATGAGTCAAGTACCACACTTG	0.428													22	29					0	0	1	0	0	C	54307635	T	C	54307635	2	2	81	1	0	0	0	0	0	0	0	1	17046	1635	57	3		3	UNC13C	15	54307635	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	2025	54307635	48223757	10999	14615											
UNC13C	440279	broad.mit.edu	37	15	54799345	54799345	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:54799345G>A	ENST00000545554.1	+	22	5332	c.5332G>A	c.(5332-5334)Gca>Aca	p.A1778T	UNC13C_ENST00000537900.1_Missense_Mutation_p.A1776T|UNC13C_ENST00000260323.11_Missense_Mutation_p.A1778T			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1778	MHD1.				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		CCAGTATGCTGCAATTGTATC	0.313													3	4					0	0	1	0	0	A	54799345	G	A	54799345	3	1	81	1	0	0	0	0	1	0	0	0	17046	1319	46	2	5414	2	UNC13C	15	54799345	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	491710	54799345	47732047	11000	14616											
CCPG1	9236	broad.mit.edu	37	15	55652430	55652430	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:55652430G>A	ENST00000310958.6	-	8	1839	c.1541C>T	c.(1540-1542)gCt>gTt	p.A514V	DYX1C1-CCPG1_ENST00000565113.1_RNA|CCPG1_ENST00000569205.1_Missense_Mutation_p.A514V|CCPG1_ENST00000425574.3_Intron|CCPG1_ENST00000442196.3_Missense_Mutation_p.A514V	NM_001204450.1|NM_001204451.1|NM_004748.4|NM_020739.3	NP_001191379.1|NP_001191380.1|NP_004739.3|NP_065790.2	Q9ULG6	CCPG1_HUMAN	cell cycle progression 1	514					cell cycle	integral to membrane				autonomic_ganglia(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|stomach(3)	30				all cancers(107;0.0354)		AGCTTCTTTAGCCTGCTTAAT	0.333													19	200					0	0	1	0	0	A	55652430	G	A	55652430	3	1	81	1	0	0	0	0	1	0	0	0	2960	971	34	2	736	2	CCPG1	15	55652430	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	853085	55652430	46878962	11001	14617											
PRTG	283659	broad.mit.edu	37	15	55912934	55912934	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:55912934C>T	ENST00000389286.4	-	19	3172	c.3125G>A	c.(3124-3126)gGt>gAt	p.G1042D		NM_173814.4	NP_776175.2	Q2VWP7	PRTG_HUMAN	protogenin	1042					multicellular organismal development	integral to membrane				breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)		AATTATAGGACCATAGCTATT	0.323													14	38					0	0	1	0	0	T	55912934	C	T	55912934	3	4	81	1	0	0	0	0	1	0	0	0	12687	507	18	2	335	2	PRTG	15	55912934	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	260504	55912934	46618458	11002	14618											
PRTG	283659	broad.mit.edu	37	15	55919209	55919209	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:55919209G>A	ENST00000389286.4	-	17	2971	c.2924C>T	c.(2923-2925)gCc>gTc	p.A975V		NM_173814.4	NP_776175.2	Q2VWP7	PRTG_HUMAN	protogenin	975					multicellular organismal development	integral to membrane				breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)		AACACACCTGGCTTTACTTCG	0.418													24	33					0	0	1	0	0	A	55919209	G	A	55919209	3	1	81	1	0	0	0	0	1	0	0	0	12687	1203	42	2	544	2	PRTG	15	55919209	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	6275	55919209	46612183	11003	14619											
NEDD4	4734	broad.mit.edu	37	15	56130001	56130001	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:56130001C>T	ENST00000508342.1	-	20	3804	c.3505G>A	c.(3505-3507)Gct>Act	p.A1169T	NEDD4_ENST00000435532.3_Missense_Mutation_p.A750T|NEDD4_ENST00000506154.1_Missense_Mutation_p.A1153T|NEDD4_ENST00000338963.2_Missense_Mutation_p.A1097T	NM_001284338.1	NP_001271267.1	P46934	NEDD4_HUMAN	neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase	1169	HECT.				development involved in symbiotic interaction|glucocorticoid receptor signaling pathway|negative regulation of sodium ion transport|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage|negative regulation of vascular endothelial growth factor receptor signaling pathway|neuron projection development|positive regulation of nucleocytoplasmic transport|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein catabolic process|progesterone receptor signaling pathway|protein K63-linked ubiquitination|protein targeting to lysosome|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|receptor internalization|regulation of dendrite morphogenesis|response to calcium ion|transmission of virus	apicolateral plasma membrane|cell cortex|chromatin|cytosol|perinuclear region of cytoplasm|ubiquitin ligase complex	beta-2 adrenergic receptor binding|phosphoserine binding|phosphothreonine binding|proline-rich region binding|protein domain specific binding|RNA polymerase binding|sodium channel inhibitor activity|ubiquitin binding|ubiquitin-protein ligase activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	43				all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)		TTAAAAGCAGCCATTTGCTTC	0.328													13	21					0	0	1	0	0	T	56130001	C	T	56130001	3	4	81	1	0	0	0	0	1	0	0	0	10357	739	26	2	478	2	NEDD4	15	56130001	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	210792	56130001	46401391	11004	14620											
NEDD4	4734	broad.mit.edu	37	15	56134236	56134236	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:56134236A>G	ENST00000508342.1	-	15	3290	c.2991T>C	c.(2989-2991)gaT>gaC	p.D997D	NEDD4_ENST00000435532.3_Silent_p.D578D|NEDD4_ENST00000506154.1_Silent_p.D981D|NEDD4_ENST00000338963.2_Silent_p.D925D	NM_001284338.1	NP_001271267.1	P46934	NEDD4_HUMAN	neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase	997	HECT.				development involved in symbiotic interaction|glucocorticoid receptor signaling pathway|negative regulation of sodium ion transport|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage|negative regulation of vascular endothelial growth factor receptor signaling pathway|neuron projection development|positive regulation of nucleocytoplasmic transport|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein catabolic process|progesterone receptor signaling pathway|protein K63-linked ubiquitination|protein targeting to lysosome|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|receptor internalization|regulation of dendrite morphogenesis|response to calcium ion|transmission of virus	apicolateral plasma membrane|cell cortex|chromatin|cytosol|perinuclear region of cytoplasm|ubiquitin ligase complex	beta-2 adrenergic receptor binding|phosphoserine binding|phosphothreonine binding|proline-rich region binding|protein domain specific binding|RNA polymerase binding|sodium channel inhibitor activity|ubiquitin binding|ubiquitin-protein ligase activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	43				all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)		CCTTTTCACCATCAAACTCAA	0.428													35	60					0	0	1	0	0	G	56134236	A	G	56134236	2	3	81	1	0	0	0	0	0	0	0	1	10357	214	8	3		3	NEDD4	15	56134236	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	4235	56134236	46397156	11005	14621											
NEDD4	4734	broad.mit.edu	37	15	56142924	56142924	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:56142924C>T	ENST00000508342.1	-	10	2719	c.2420G>A	c.(2419-2421)aGt>aAt	p.S807N	NEDD4_ENST00000435532.3_Missense_Mutation_p.S388N|NEDD4_ENST00000506154.1_Missense_Mutation_p.S791N|NEDD4_ENST00000338963.2_Missense_Mutation_p.S735N	NM_001284338.1	NP_001271267.1	P46934	NEDD4_HUMAN	neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase	807	Mediates interaction with TNIK (By similarity).				development involved in symbiotic interaction|glucocorticoid receptor signaling pathway|negative regulation of sodium ion transport|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage|negative regulation of vascular endothelial growth factor receptor signaling pathway|neuron projection development|positive regulation of nucleocytoplasmic transport|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein catabolic process|progesterone receptor signaling pathway|protein K63-linked ubiquitination|protein targeting to lysosome|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|receptor internalization|regulation of dendrite morphogenesis|response to calcium ion|transmission of virus	apicolateral plasma membrane|cell cortex|chromatin|cytosol|perinuclear region of cytoplasm|ubiquitin ligase complex	beta-2 adrenergic receptor binding|phosphoserine binding|phosphothreonine binding|proline-rich region binding|protein domain specific binding|RNA polymerase binding|sodium channel inhibitor activity|ubiquitin binding|ubiquitin-protein ligase activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	43				all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)		GGTCAGCTGACTGGTCTCCAC	0.443													3	44					0	0	1	0	0	T	56142924	C	T	56142924	3	4	81	1	0	0	0	0	1	0	0	0	10357	565	20	2	1603	2	NEDD4	15	56142924	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	8688	56142924	46388468	11006	14622											
RFX7	64864	broad.mit.edu	37	15	56385982	56385982	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:56385982G>T	ENST00000423270.1	-	9	3943	c.3944C>A	c.(3943-3945)tCt>tAt	p.S1315Y	RFX7_ENST00000422057.1_Missense_Mutation_p.S1218Y|RFX7_ENST00000317318.6_Missense_Mutation_p.S1315Y|RFX7_ENST00000559447.2_Missense_Mutation_p.S1218Y	NM_022841.5	NP_073752.5	Q2KHR2	RFX7_HUMAN	regulatory factor X, 7	1218					regulation of transcription, DNA-dependent	nucleus	DNA binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						GGTGAGGTAAGATGGTGTTTG	0.388													25	42					2.79863e-10	3.42042e-10	1	1	0	T	56385982	G	T	56385982	3	4	81	1	0	0	0	0	1	0	0	0	13320	942	33	4	442	4	RFX7	15	56385982	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	243058	56385982	46145410	11007	14623											
ZNF280D	54816	broad.mit.edu	37	15	56923983	56923983	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:56923983G>A	ENST00000559237.1	-	21	3297	c.2614C>T	c.(2614-2616)Cga>Tga	p.R872*	ZNF280D_ENST00000267807.7_Nonsense_Mutation_p.R885*	NM_001002843.1	NP_001002843.1	Q6N043	Z280D_HUMAN	zinc finger protein 280D	885					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(5)|kidney(4)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	30				all cancers(107;0.0399)|GBM - Glioblastoma multiforme(80;0.0787)		GATGCTAATCGCAAATCCTTA	0.343													21	51					0	0	1	0	0	A	56923983	G	A	56923983	4	1	81	1	0	0	0	0	0	1	0	0	17875	1095	38	1	290	1	ZNF280D	15	56923983	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	538001	56923983	45607409	11008	14624											
ZNF280D	54816	broad.mit.edu	37	15	56993223	56993223	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:56993223T>A	ENST00000559237.1	-	5	933	c.250A>T	c.(250-252)Aca>Tca	p.T84S	ZNF280D_ENST00000558320.1_Missense_Mutation_p.T97S|ZNF280D_ENST00000396245.1_5'UTR|ZNF280D_ENST00000559000.1_Missense_Mutation_p.T84S|ZNF280D_ENST00000267807.7_Missense_Mutation_p.T97S	NM_001002843.1	NP_001002843.1	Q6N043	Z280D_HUMAN	zinc finger protein 280D	97					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(5)|kidney(4)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	30				all cancers(107;0.0399)|GBM - Glioblastoma multiforme(80;0.0787)		GGATTTGATGTTGGATTCGTG	0.338													7	73					0	0	1	0	0	A	56993223	T	A	56993223	3	1	81	1	0	0	0	0	1	0	0	0	17875	1725	60	5	2814	5	ZNF280D	15	56993223	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	69240	56993223	45538169	11009	14625											
CGNL1	84952	broad.mit.edu	37	15	57745976	57745976	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:57745976C>T	ENST00000281282.5	+	7	2228	c.2150C>T	c.(2149-2151)gCa>gTa	p.A717V		NM_001252335.1|NM_032866.4	NP_001239264.1|NP_116255.2	Q0VF96	CGNL1_HUMAN	cingulin-like 1	717						myosin complex|tight junction	motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		CTGGACAGTGCAAAGCGATCG	0.557													13	14					0	0	1	0	0	T	57745976	C	T	57745976	3	4	81	1	0	0	0	0	1	0	0	0	3326	710	25	2	2172	2	CGNL1	15	57745976	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	752753	57745976	44785416	11010	14626											
GCOM1	145781	broad.mit.edu	37	15	57924668	57924668	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:57924668C>T	ENST00000574161.1	+	7	834	c.715C>T	c.(715-717)Cga>Tga	p.R239*	GCOM1_ENST00000380568.3_Nonsense_Mutation_p.R239*|GCOM1_ENST00000587652.1_Nonsense_Mutation_p.R239*|POLR2M_ENST00000380563.2_5'UTR|MYZAP_ENST00000267853.5_Nonsense_Mutation_p.R239*|GCOM1_ENST00000572390.1_Nonsense_Mutation_p.R239*|GCOM1_ENST00000380569.2_Nonsense_Mutation_p.R239*|GCOM1_ENST00000380560.2_Nonsense_Mutation_p.R170*|GCOM1_ENST00000380561.2_Nonsense_Mutation_p.R208*|GCOM1_ENST00000396180.1_Nonsense_Mutation_p.R208*|MYZAP_ENST00000380565.4_Nonsense_Mutation_p.R239*	NM_001018100.3	NP_001018110.1	P0CAP1	GCOM1_HUMAN		239					intracellular signal transduction	extrinsic to internal side of plasma membrane|I band				endometrium(1)|kidney(2)|large_intestine(9)|liver(1)|lung(1)|ovary(1)|skin(2)|stomach(1)	18						TGAGGTGATGCGAGAGATGAC	0.512													29	47					0	0	1	0	0	T	57924668	C	T	57924668	4	4	81	1	0	0	0	0	0	1	0	0	6345	760	27	1	741	1	GCOM1	15	57924668	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	178692	57924668	44606724	11011	14627											
GCOM1	145781	broad.mit.edu	37	15	57925929	57925929	+	Missense_Mutation	SNP	G	G	A	rs144667495		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:57925929G>A	ENST00000574161.1	+	8	1042	c.923G>A	c.(922-924)cGc>cAc	p.R308H	GCOM1_ENST00000380568.3_Missense_Mutation_p.R308H|GCOM1_ENST00000587652.1_Missense_Mutation_p.R308H|POLR2M_ENST00000380563.2_5'UTR|MYZAP_ENST00000267853.5_Missense_Mutation_p.R308H|GCOM1_ENST00000572390.1_Missense_Mutation_p.R308H|GCOM1_ENST00000380569.2_Missense_Mutation_p.R308H|GCOM1_ENST00000380560.2_Missense_Mutation_p.R239H|GCOM1_ENST00000380561.2_Missense_Mutation_p.R277H|GCOM1_ENST00000396180.1_Missense_Mutation_p.R277H|MYZAP_ENST00000380565.4_Missense_Mutation_p.R308H	NM_001018100.3	NP_001018110.1	P0CAP1	GCOM1_HUMAN		308					intracellular signal transduction	extrinsic to internal side of plasma membrane|I band				endometrium(1)|kidney(2)|large_intestine(9)|liver(1)|lung(1)|ovary(1)|skin(2)|stomach(1)	18						CTGATTGAGCGCATGGAAAAG	0.512													17	50					0	0	1	0	0	A	57925929	G	A	57925929	3	1	81	1	0	0	0	0	1	0	0	0	6345	1087	38	1	953	1	GCOM1	15	57925929	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1261	57925929	44605463	11012	14628											
ADAM10	102	broad.mit.edu	37	15	58889778	58889778	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:58889778C>A	ENST00000260408.3	-	16	2658	c.2215G>T	c.(2215-2217)Gag>Tag	p.E739*	ADAM10_ENST00000396140.2_Nonsense_Mutation_p.E438*|ADAM10_ENST00000402627.1_Intron|ADAM10_ENST00000561288.1_Intron	NM_001110.2	NP_001101.1	O14672	ADA10_HUMAN	ADAM metallopeptidase domain 10	739					cell-cell signaling|constitutive protein ectodomain proteolysis|epidermal growth factor receptor signaling pathway|in utero embryonic development|integrin-mediated signaling pathway|monocyte activation|negative regulation of cell adhesion|Notch receptor processing|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of T cell chemotaxis|protein phosphorylation|response to tumor necrosis factor	cell surface|endomembrane system|Golgi-associated vesicle|integral to membrane|nucleus|plasma membrane	integrin binding|metalloendopeptidase activity|protein homodimerization activity|protein kinase binding|SH3 domain binding|zinc ion binding			breast(1)|endometrium(1)|kidney(5)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)	27				GBM - Glioblastoma multiforme(80;0.202)		TGATAACTCTCTCGGGGCCGC	0.468													5	57					0.184627	0.18622	1	1	0	A	58889778	C	A	58889778	4	1	81	1	0	0	0	0	0	1	0	0	233	922	32	4	35	4	ADAM10	15	58889778	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	963849	58889778	43641614	11013	14629											
FAM63B	54629	broad.mit.edu	37	15	59102556	59102556	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:59102556C>A	ENST00000559228.1	+	4	1173	c.1091C>A	c.(1090-1092)cCt>cAt	p.P364H	FAM63B_ENST00000450403.2_Missense_Mutation_p.P364H			Q8NBR6	FA63B_HUMAN	family with sequence similarity 63, member B	364										central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	15						CTTGATATTCCTTTGTACCAT	0.343													6	47					0.0215528	0.0221217	1	1	0	A	59102556	C	A	59102556	3	1	81	1	0	0	0	0	1	0	0	0	5632	681	24	4	1105	4	FAM63B	15	59102556	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	212778	59102556	43428836	11014	14630											
SLTM	79811	broad.mit.edu	37	15	59179515	59179515	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:59179515G>T	ENST00000380516.2	-	18	2687	c.2600C>A	c.(2599-2601)cCt>cAt	p.P867H	SLTM_ENST00000536328.1_Missense_Mutation_p.P436H	NM_001013843.1|NM_024755.2	NP_001013865.1|NP_079031.2	Q9NWH9	SLTM_HUMAN	SAFB-like, transcription modulator	867	Arg/Glu-rich.				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						AGGATGTCTAGGATGAGTGAT	0.502													10	67					7.48243e-07	8.64403e-07	1	1	0	T	59179515	G	T	59179515	3	4	81	1	0	0	0	0	1	0	0	0	14808	1000	35	4	520	4	SLTM	15	59179515	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	76959	59179515	43351877	11015	14631											
SLTM	79811	broad.mit.edu	37	15	59179566	59179566	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:59179566C>T	ENST00000380516.2	-	18	2636	c.2549G>A	c.(2548-2550)cGa>cAa	p.R850Q	SLTM_ENST00000536328.1_Missense_Mutation_p.R419Q	NM_001013843.1|NM_024755.2	NP_001013865.1|NP_079031.2	Q9NWH9	SLTM_HUMAN	SAFB-like, transcription modulator	850	Arg/Glu-rich.				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CCTTTCGTCTCGCTCCCCTCG	0.493													8	72					0	0	1	0	0	T	59179566	C	T	59179566	3	4	81	1	0	0	0	0	1	0	0	0	14808	884	31	1	571	1	SLTM	15	59179566	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	51	59179566	43351826	11016	14632											
SLTM	79811	broad.mit.edu	37	15	59182557	59182557	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:59182557C>A	ENST00000380516.2	-	15	2089	c.2002G>T	c.(2002-2004)Gaa>Taa	p.E668*	SLTM_ENST00000536328.1_Nonsense_Mutation_p.E237*|AC025918.2_ENST00000452467.1_RNA	NM_001013843.1|NM_024755.2	NP_001013865.1|NP_079031.2	Q9NWH9	SLTM_HUMAN	SAFB-like, transcription modulator	668	Arg/Glu-rich.				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CTTTCAATTTCTAGGCGCTCT	0.458													59	97					5.86059e-21	7.66577e-21	1	1	0	A	59182557	C	A	59182557	4	1	81	1	0	0	0	0	0	1	0	0	14808	922	32	4	1130	4	SLTM	15	59182557	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2991	59182557	43348835	11017	14633											
SLTM	79811	broad.mit.edu	37	15	59185096	59185096	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:59185096C>A	ENST00000380516.2	-	14	1985	c.1898G>T	c.(1897-1899)aGa>aTa	p.R633I	SLTM_ENST00000536328.1_Splice_Site_p.R202I|AC025918.2_ENST00000452467.1_RNA	NM_001013843.1|NM_024755.2	NP_001013865.1|NP_079031.2	Q9NWH9	SLTM_HUMAN	SAFB-like, transcription modulator	633	Arg/Glu-rich.				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CTCTTCCTACCTTCGAAGTTC	0.358													9	84					0.00621372	0.00649472	1	1	0	A	59185096	C	A	59185096	5	1	81	1	0	0	0	0	0	0	1	0	14808	695	24	4	1238	4	SLTM	15	59185096	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2539	59185096	43346296	11018	14634											
RNF111	54778	broad.mit.edu	37	15	59373204	59373204	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:59373204C>A	ENST00000348370.4	+	8	2451	c.2018C>A	c.(2017-2019)cCt>cAt	p.P673H	RNF111_ENST00000557998.1_Missense_Mutation_p.P673H|RNF111_ENST00000559209.1_Missense_Mutation_p.P673H|RNF111_ENST00000434298.1_Missense_Mutation_p.P673H|RNF111_ENST00000561186.1_Missense_Mutation_p.P673H	NM_001270528.1|NM_001270529.1|NM_017610.7	NP_001257457.1|NP_001257458.1|NP_060080.6	Q6ZNA4	RN111_HUMAN	ring finger protein 111	673	Pro-rich.				multicellular organismal development|positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35				all cancers(107;0.194)		AACCCCCCTCCTCAGACTCAG	0.448													7	126					3.09899e-07	3.60815e-07	1	1	0	A	59373204	C	A	59373204	3	1	81	1	0	0	0	0	1	0	0	0	13477	681	24	4	2044	4	RNF111	15	59373204	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	188108	59373204	43158188	11019	14635											
RNF111	54778	broad.mit.edu	37	15	59384789	59384789	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:59384789G>T	ENST00000348370.4	+	13	3226	c.2793G>T	c.(2791-2793)gaG>gaT	p.E931D	RNF111_ENST00000559209.1_Missense_Mutation_p.E940D|RNF111_ENST00000434298.1_Missense_Mutation_p.E948D|RNF111_ENST00000557998.1_Missense_Mutation_p.E939D|RNF111_ENST00000561186.1_Missense_Mutation_p.E948D	NM_001270528.1|NM_001270529.1|NM_017610.7	NP_001257457.1|NP_001257458.1|NP_060080.6	Q6ZNA4	RN111_HUMAN	ring finger protein 111	939				E -> G (in Ref. 2; CAD98031).	multicellular organismal development|positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35				all cancers(107;0.194)		AAGACACAGAGGAAAAATGTA	0.368													3	10					0.00909568	0.00944708	1	1	0	T	59384789	G	T	59384789	3	4	81	1	0	0	0	0	1	0	0	0	13477	991	35	4	2839	4	RNF111	15	59384789	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	11585	59384789	43146603	11020	14636											
MYO1E	4643	broad.mit.edu	37	15	59487690	59487690	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:59487690G>A	ENST00000288235.4	-	17	2174	c.1775C>T	c.(1774-1776)aCc>aTc	p.T592I		NM_004998.3	NP_004989.2	Q12965	MYO1E_HUMAN	myosin IE	592	Myosin head-like.				actin filament-based movement	myosin complex	actin binding|ATP binding|ATPase activity, coupled|calmodulin binding|microfilament motor activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(6)|lung(10)|pancreas(2)|prostate(1)|urinary_tract(1)	33				all cancers(107;0.207)		GGGCTTCTTGGTTTCGTTTGG	0.522													44	64					0	0	1	0	0	A	59487690	G	A	59487690	3	1	81	1	0	0	0	0	1	0	0	0	10120	1261	44	2	1599	2	MYO1E	15	59487690	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	102901	59487690	43043702	11021	14637											
GTF2A2	2958	broad.mit.edu	37	15	59944473	59944473	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:59944473C>T	ENST00000396060.2	-	2	185	c.4G>A	c.(4-6)Gca>Aca	p.A2T	GTF2A2_ENST00000396064.3_Missense_Mutation_p.A2T|GTF2A2_ENST00000267869.4_Intron|AC092755.4_ENST00000441746.1_RNA|GTF2A2_ENST00000484743.1_Missense_Mutation_p.A2T|GTF2A2_ENST00000396061.1_Missense_Mutation_p.A2T|GTF2A2_ENST00000396063.1_Missense_Mutation_p.A2T	NM_004492.2	NP_004483.1	P52657	T2AG_HUMAN	general transcription factor IIA, 2, 12kDa	2					interspecies interaction between organisms|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	transcription factor TFIIA complex	protein heterodimerization activity|protein homodimerization activity|TBP-class protein binding|transcription coactivator activity			central_nervous_system(2)|kidney(2)|lung(1)	5						AACTGATATGCCATGGCTTAG	0.318													6	123					0	0	1	0	0	T	59944473	C	T	59944473	3	4	81	1	0	0	0	0	1	0	0	0	6895	739	26	2	341	2	GTF2A2	15	59944473	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	456783	59944473	42586919	11022	14638											
NARG2	79664	broad.mit.edu	37	15	60760498	60760498	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:60760498G>T	ENST00000261520.4	-	4	404	c.170C>A	c.(169-171)gCc>gAc	p.A57D	NARG2_ENST00000439632.1_Intron|NARG2_ENST00000558654.1_Intron|NARG2_ENST00000561114.1_Missense_Mutation_p.A57D	NM_024611.4	NP_078887.2	Q659A1	NARG2_HUMAN	NMDA receptor regulated 2	57						nucleus				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	32						ACTTGCTGAGGCATTCAAATT	0.343													28	42					1.39806e-14	1.77612e-14	1	1	0	T	60760498	G	T	60760498	3	4	81	1	0	0	0	0	1	0	0	0	10217	1203	42	5	2830	5	NARG2	15	60760498	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	816025	60760498	41770894	11023	14639											
VPS13C	54832	broad.mit.edu	37	15	62165444	62165444	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:62165444C>A	ENST00000261517.5	-	78	10652		c.e78+1		VPS13C_ENST00000249837.3_Splice_Site|VPS13C_ENST00000395896.4_Splice_Site|VPS13C_ENST00000395898.3_Splice_Site	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13 homolog C (S. cerevisiae)						protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						AAAGAACTTACTCGCAGAAAG	0.418													64	111					9.61844e-40	1.29149e-39	1	1	0	A	62165444	C	A	62165444	5	1	81	1	0	0	0	0	0	0	1	0	17251	579	20	4	742	4	VPS13C	15	62165444	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1404946	62165444	40365948	11024	14640											
VPS13C	54832	broad.mit.edu	37	15	62199530	62199530	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:62199530T>C	ENST00000261517.5	-	66	9111	c.9038A>G	c.(9037-9039)gAt>gGt	p.D3013G	VPS13C_ENST00000249837.3_Missense_Mutation_p.D2970G|VPS13C_ENST00000395896.4_Missense_Mutation_p.D3013G|VPS13C_ENST00000395898.3_Missense_Mutation_p.D2970G	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13 homolog C (S. cerevisiae)	3013					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						ACCAGTAGGATCTGCCCAGGC	0.413													37	56					0	0	1	0	0	C	62199530	T	C	62199530	3	2	81	1	0	0	0	0	1	0	0	0	17251	1435	50	3	2331	3	VPS13C	15	62199530	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	34086	62199530	40331862	11025	14641											
VPS13C	54832	broad.mit.edu	37	15	62199548	62199548	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:62199548C>T	ENST00000261517.5	-	66	9093	c.9020G>A	c.(9019-9021)cGa>cAa	p.R3007Q	VPS13C_ENST00000249837.3_Missense_Mutation_p.R2964Q|VPS13C_ENST00000395896.4_Missense_Mutation_p.R3007Q|VPS13C_ENST00000395898.3_Missense_Mutation_p.R2964Q	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13 homolog C (S. cerevisiae)	3007					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						GGCAAAAAGTCGAGCCTGTCT	0.418													29	45					0	0	1	0	0	T	62199548	C	T	62199548	3	4	81	1	0	0	0	0	1	0	0	0	17251	884	31	1	2349	1	VPS13C	15	62199548	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	18	62199548	40331844	11026	14642											
VPS13C	54832	broad.mit.edu	37	15	62201256	62201256	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:62201256A>G	ENST00000261517.5	-	65	8986	c.8913T>C	c.(8911-8913)caT>caC	p.H2971H	VPS13C_ENST00000249837.3_Silent_p.H2928H|VPS13C_ENST00000395896.4_Silent_p.H2971H|VPS13C_ENST00000395898.3_Silent_p.H2928H	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13 homolog C (S. cerevisiae)	2971					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						CAGATCCCTCATGGTAATCAG	0.373													8	65					0	0	1	0	0	G	62201256	A	G	62201256	2	3	81	1	0	0	0	0	0	0	0	1	17251	214	8	3		3	VPS13C	15	62201256	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	1708	62201256	40330136	11027	14643											
VPS13C	54832	broad.mit.edu	37	15	62238573	62238573	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:62238573G>A	ENST00000261517.5	-	44	4986	c.4913C>T	c.(4912-4914)aCt>aTt	p.T1638I	VPS13C_ENST00000249837.3_Missense_Mutation_p.T1595I|VPS13C_ENST00000395896.4_Missense_Mutation_p.T1638I|VPS13C_ENST00000395898.3_Missense_Mutation_p.T1595I	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13 homolog C (S. cerevisiae)	1638					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						AAACACATCAGTCTGCTTAGG	0.318													18	22					0	0	1	0	0	A	62238573	G	A	62238573	3	1	81	1	0	0	0	0	1	0	0	0	17251	1029	36	2	6544	2	VPS13C	15	62238573	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	37317	62238573	40292819	11028	14644											
VPS13C	54832	broad.mit.edu	37	15	62254064	62254064	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:62254064T>A	ENST00000261517.5	-	35	3705	c.3632A>T	c.(3631-3633)aAa>aTa	p.K1211I	VPS13C_ENST00000249837.3_Missense_Mutation_p.K1168I|VPS13C_ENST00000395896.4_Missense_Mutation_p.K1211I|VPS13C_ENST00000395898.3_Missense_Mutation_p.K1168I	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13 homolog C (S. cerevisiae)	1211					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						CAGAGACTCTTTGGCTGTCTG	0.418													4	57					0	0	1	0	0	A	62254064	T	A	62254064	3	1	81	1	0	0	0	0	1	0	0	0	17251	1841	64	5	7861	5	VPS13C	15	62254064	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	15491	62254064	40277328	11029	14645											
VPS13C	54832	broad.mit.edu	37	15	62277144	62277144	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:62277144C>A	ENST00000261517.5	-	19	1706	c.1633G>T	c.(1633-1635)Gaa>Taa	p.E545*	VPS13C_ENST00000249837.3_Nonsense_Mutation_p.E502*|VPS13C_ENST00000395896.4_Nonsense_Mutation_p.E545*|VPS13C_ENST00000395898.3_Nonsense_Mutation_p.E502*	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13 homolog C (S. cerevisiae)	545					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						TTCTTGTTTTCTCTTATCGTA	0.323													6	51					1.12685e-05	1.27052e-05	1	1	0	A	62277144	C	A	62277144	4	1	81	1	0	0	0	0	0	1	0	0	17251	922	32	4	9924	4	VPS13C	15	62277144	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	23080	62277144	40254248	11030	14646											
VPS13C	54832	broad.mit.edu	37	15	62302756	62302756	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:62302756G>A	ENST00000261517.5	-	13	999	c.926C>T	c.(925-927)cCt>cTt	p.P309L	VPS13C_ENST00000249837.3_Missense_Mutation_p.P266L|VPS13C_ENST00000395896.4_Missense_Mutation_p.P309L|VPS13C_ENST00000395898.3_Missense_Mutation_p.P266L	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13 homolog C (S. cerevisiae)	309					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						TTCTGCATAAGGATTCATGTA	0.373													39	51					0	0	1	0	0	A	62302756	G	A	62302756	3	1	81	1	0	0	0	0	1	0	0	0	17251	1000	35	2	10655	2	VPS13C	15	62302756	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	25612	62302756	40228636	11031	14647											
VPS13C	54832	broad.mit.edu	37	15	62316028	62316029	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:62316028_62316029insT	ENST00000261517.5	-	7	537_538	c.464_465insA	c.(463-465)aagfs	p.K155fs	VPS13C_ENST00000249837.3_Intron|VPS13C_ENST00000395898.3_Intron|VPS13C_ENST00000395896.4_Frame_Shift_Ins_p.K155fs	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13 homolog C (S. cerevisiae)	155	Lys-rich.				protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						GTTTTTTGTGCTTTTTACGTTT	0.332													31	61	---	---	---	---						T	62316029	-	T	62316028	7	5	81	1	0	1	1	0	0	0	0	0	17251	796	28	0	11140	0	VPS13C	15	62316028	Frame_Shift_Ins	INS	-	TCGA-DU-6392-01A-11D-1705-08	13272	62316028	40215364	11032	14648											
VPS13C	54832	broad.mit.edu	37	15	62320617	62320617	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:62320617T>G	ENST00000261517.5	-	6	461	c.388A>C	c.(388-390)Aca>Cca	p.T130P	VPS13C_ENST00000249837.3_Intron|VPS13C_ENST00000395896.4_Missense_Mutation_p.T130P|VPS13C_ENST00000395898.3_Intron	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13 homolog C (S. cerevisiae)	130					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						CCTGAATGTGTGCCTGCATCC	0.333													21	48					0	0	1	0	0	G	62320617	T	G	62320617	3	3	81	1	0	0	0	0	1	0	0	0	17251	1696	59	5	11221	5	VPS13C	15	62320617	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	4589	62320617	40210775	11033	14649											
TLN2	83660	broad.mit.edu	37	15	62939551	62939551	+	Silent	SNP	C	C	T	rs144527579	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:62939551C>T	ENST00000561311.1	+	3	272	c.42C>T	c.(40-42)aaC>aaT	p.N14N	TLN2_ENST00000306829.6_Silent_p.N14N			Q9Y4G6	TLN2_HUMAN	talin 2	14					cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						GCCACTGCAACGTGGTGAAGA	0.493													48	45					0	0	1	0	0	T	62939551	C	T	62939551	2	4	81	1	0	0	0	0	0	0	0	1	16008	535	19	1		1	TLN2	15	62939551	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	618934	62939551	39591841	11034	14650											
TLN2	83660	broad.mit.edu	37	15	62994230	62994230	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:62994230C>T	ENST00000561311.1	+	17	1966	c.1736C>T	c.(1735-1737)gCg>gTg	p.A579V	TLN2_ENST00000306829.6_Missense_Mutation_p.A579V			Q9Y4G6	TLN2_HUMAN	talin 2	579					cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						GTGGGATGTGCGATCACCACT	0.537													22	31					0	0	1	0	0	T	62994230	C	T	62994230	3	4	81	1	0	0	0	0	1	0	0	0	16008	768	27	1	1794	1	TLN2	15	62994230	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	54679	62994230	39537162	11035	14651											
TLN2	83660	broad.mit.edu	37	15	63017291	63017291	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:63017291T>C	ENST00000561311.1	+	26	3473	c.3243T>C	c.(3241-3243)ctT>ctC	p.L1081L	TLN2_ENST00000306829.6_Silent_p.L1081L			Q9Y4G6	TLN2_HUMAN	talin 2	1081	Ala-rich.				cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						TGAAGCCACTTCCAGGGGAAA	0.493													14	22					0	0	1	0	0	C	63017291	T	C	63017291	2	2	81	1	0	0	0	0	0	0	0	1	16008	1770	62	3		3	TLN2	15	63017291	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	23061	63017291	39514101	11036	14652											
TLN2	83660	broad.mit.edu	37	15	63055879	63055879	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:63055879C>T	ENST00000561311.1	+	39	5309	c.5079C>T	c.(5077-5079)gaC>gaT	p.D1693D	TLN2_ENST00000306829.6_Silent_p.D1693D|TLN2_ENST00000472902.1_Silent_p.D86D			Q9Y4G6	TLN2_HUMAN	talin 2	1693					cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						CCACGAGGGACGACATCTCTG	0.572													9	9					0	0	1	0	0	T	63055879	C	T	63055879	2	4	81	1	0	0	0	0	0	0	0	1	16008	535	19	1		1	TLN2	15	63055879	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	38588	63055879	39475513	11037	14653											
TLN2	83660	broad.mit.edu	37	15	63127961	63127961	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:63127961C>A	ENST00000561311.1	+	55	7384	c.7154C>A	c.(7153-7155)gCa>gAa	p.A2385E	TLN2_ENST00000306829.6_Missense_Mutation_p.A2385E|RP11-1069G10.1_ENST00000558404.1_RNA			Q9Y4G6	TLN2_HUMAN	talin 2	2385	I/LWEQ.				cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						GCCAATGCTGCAGACGACGGA	0.592													8	92					3.86212e-05	4.27865e-05	1	1	0	A	63127961	C	A	63127961	3	1	81	1	0	0	0	0	1	0	0	0	16008	710	25	5	7364	5	TLN2	15	63127961	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	72082	63127961	39403431	11038	14654											
TPM1	7168	broad.mit.edu	37	15	63354834	63354834	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:63354834T>G	ENST00000357980.4	+	9	967	c.888T>G	c.(886-888)gaT>gaG	p.D296E	TPM1_ENST00000559281.1_Missense_Mutation_p.D218E|TPM1_ENST00000267996.7_Missense_Mutation_p.D254E|TPM1_ENST00000559556.1_Missense_Mutation_p.D254E|TPM1_ENST00000358278.3_Missense_Mutation_p.D254E|TPM1_ENST00000288398.6_Missense_Mutation_p.D254E|TPM1_ENST00000560445.1_Intron|TPM1_ENST00000334895.5_Missense_Mutation_p.D218E|TPM1_ENST00000559397.1_Missense_Mutation_p.D254E|TPM1_ENST00000560959.1_Missense_Mutation_p.D218E|TPM1_ENST00000317516.7_Missense_Mutation_p.D218E|TPM1_ENST00000403994.3_Missense_Mutation_p.D254E|TPM1_ENST00000404484.4_Missense_Mutation_p.D218E			P09493	TPM1_HUMAN	tropomyosin 1 (alpha)	254					cardiac muscle contraction|cellular component movement|cellular response to reactive oxygen species|muscle filament sliding|negative regulation of cell migration|positive regulation of ATPase activity|positive regulation of cell adhesion|positive regulation of heart rate by epinephrine|positive regulation of stress fiber assembly|regulation of muscle contraction|ruffle organization|sarcomere organization|ventricular cardiac muscle tissue morphogenesis|wound healing	bleb|cytosol|muscle thin filament tropomyosin|ruffle membrane|stress fiber	actin binding|structural constituent of cytoskeleton|structural constituent of muscle			endometrium(1)|large_intestine(1)|lung(2)	4						AAAGCATTGATGACTTAGAAG	0.368													31	54					0	0	1	0	0	G	63354834	T	G	63354834	3	3	81	1	0	0	0	0	1	0	0	0	16466	1461	51	4	1138	4	TPM1	15	63354834	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	226873	63354834	39176558	11039	14655											
TPM1	7168	broad.mit.edu	37	15	63363318	63363318	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:63363318C>A	ENST00000357980.4	+	10	1007	c.928C>A	c.(928-930)Ctt>Att	p.L310I	TPM1_ENST00000267996.7_Missense_Mutation_p.L268I|TPM1_ENST00000559556.1_Missense_Mutation_p.L268I|TPM1_ENST00000358278.3_Missense_Mutation_p.L268I|TPM1_ENST00000559397.1_Missense_Mutation_p.L268I|TPM1_ENST00000404484.4_Missense_Mutation_p.L232I|RP11-244F12.2_ENST00000558905.1_RNA			P09493	TPM1_HUMAN	tropomyosin 1 (alpha)	268					cardiac muscle contraction|cellular component movement|cellular response to reactive oxygen species|muscle filament sliding|negative regulation of cell migration|positive regulation of ATPase activity|positive regulation of cell adhesion|positive regulation of heart rate by epinephrine|positive regulation of stress fiber assembly|regulation of muscle contraction|ruffle organization|sarcomere organization|ventricular cardiac muscle tissue morphogenesis|wound healing	bleb|cytosol|muscle thin filament tropomyosin|ruffle membrane|stress fiber	actin binding|structural constituent of cytoskeleton|structural constituent of muscle			endometrium(1)|large_intestine(1)|lung(2)	4						AGAAGAAAACCTTAGTATGCA	0.388													10	84					0.000978159	0.00104673	1	1	0	A	63363318	C	A	63363318	3	1	81	1	0	0	0	0	1	0	0	0	16466	681	24	4	1355	4	TPM1	15	63363318	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	8484	63363318	39168074	11040	14656											
USP3	9960	broad.mit.edu	37	15	63866561	63866561	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:63866561G>A	ENST00000268049.7	+	12	1313	c.989G>A	c.(988-990)cGc>cAc	p.R330H	USP3-AS1_ENST00000559357.1_RNA|USP3_ENST00000380324.3_Missense_Mutation_p.R352H|USP3_ENST00000540797.1_Missense_Mutation_p.R308H|USP3-AS1_ENST00000559861.1_RNA|USP3_ENST00000536001.1_3'UTR|USP3_ENST00000559711.1_Missense_Mutation_p.R263H|USP3_ENST00000539772.1_Missense_Mutation_p.R103H|USP3-AS1_ENST00000560350.1_RNA|USP3_ENST00000558285.1_Missense_Mutation_p.R335H			Q9Y6I4	UBP3_HUMAN	ubiquitin specific peptidase 3	352					DNA repair|histone deubiquitination|mitotic cell cycle|regulation of protein stability|ubiquitin-dependent protein catabolic process	nuclear chromatin	histone binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			endometrium(3)|large_intestine(7)|lung(4)	14				GBM - Glioblastoma multiforme(80;0.0187)		AGAAGTAAGCGCTCTAAGAAT	0.308													16	32					0	0	1	0	0	A	63866561	G	A	63866561	3	1	81	1	0	0	0	0	1	0	0	0	17120	1087	38	1	1097	1	USP3	15	63866561	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	503243	63866561	38664831	11041	14657											
USP3	9960	broad.mit.edu	37	15	63880966	63880966	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:63880966C>T	ENST00000268049.7	+	14	1539	c.1215C>T	c.(1213-1215)taC>taT	p.Y405Y	USP3_ENST00000558218.1_3'UTR|USP3-AS1_ENST00000559357.1_RNA|USP3_ENST00000380324.3_Silent_p.Y427Y|USP3_ENST00000540797.1_Silent_p.Y383Y|USP3-AS1_ENST00000558831.1_RNA|USP3-AS1_ENST00000559861.1_RNA|USP3_ENST00000559711.1_Silent_p.Y338Y|USP3_ENST00000539772.1_Silent_p.Y178Y|USP3-AS1_ENST00000560350.1_RNA|USP3-AS1_ENST00000559737.1_RNA|USP3-AS1_ENST00000560962.1_RNA|USP3_ENST00000558285.1_Silent_p.Y410Y			Q9Y6I4	UBP3_HUMAN	ubiquitin specific peptidase 3	427					DNA repair|histone deubiquitination|mitotic cell cycle|regulation of protein stability|ubiquitin-dependent protein catabolic process	nuclear chromatin	histone binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			endometrium(3)|large_intestine(7)|lung(4)	14				GBM - Glioblastoma multiforme(80;0.0187)		TTGATACATACGTAGAATTTC	0.373													34	55					0	0	1	0	0	T	63880966	C	T	63880966	2	4	81	1	0	0	0	0	0	0	0	1	17120	547	19	1		1	USP3	15	63880966	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	14405	63880966	38650426	11042	14658											
HERC1	8925	broad.mit.edu	37	15	63904729	63904729	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:63904729G>T	ENST00000443617.2	-	77	14208	c.14121C>A	c.(14119-14121)tcC>tcA	p.S4707S		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	4707	HECT.				protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						GAACAATCCAGGACATCCCTT	0.577													8	50					0.00621372	0.00649472	1	1	0	T	63904729	G	T	63904729	2	4	81	1	0	0	0	0	0	0	0	1	7098	987	35	4		4	HERC1	15	63904729	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	23763	63904729	38626663	11043	14659											
HERC1	8925	broad.mit.edu	37	15	63922785	63922785	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:63922785C>T	ENST00000443617.2	-	69	12933	c.12846G>A	c.(12844-12846)ccG>ccA	p.P4282P		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	4282					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity	p.P4282P(1)		NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						GGATTTGTTGCGGTCGATTGT	0.473													45	55					0	0	1	0	0	T	63922785	C	T	63922785	2	4	81	1	0	0	0	0	0	0	0	1	7098	755	27	1		1	HERC1	15	63922785	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	18056	63922785	38608607	11044	14660											
HERC1	8925	broad.mit.edu	37	15	63928207	63928207	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:63928207G>A	ENST00000443617.2	-	65	12454	c.12367C>T	c.(12367-12369)Cgg>Tgg	p.R4123W		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	4123					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						CTGGGCCGCCGCTGCCTGTCG	0.502													102	175					0	0	1	0	0	A	63928207	G	A	63928207	3	1	81	1	0	0	0	0	1	0	0	0	7098	1086	38	1	2274	1	HERC1	15	63928207	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	5422	63928207	38603185	11045	14661											
HERC1	8925	broad.mit.edu	37	15	63944624	63944624	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:63944624C>T	ENST00000443617.2	-	52	10494	c.10407G>A	c.(10405-10407)gtG>gtA	p.V3469V		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	3469					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						ATCTGTTGAACACACAGGTCT	0.383													10	14					0	0	1	0	0	T	63944624	C	T	63944624	2	4	81	1	0	0	0	0	0	0	0	1	7098	465	17	2		2	HERC1	15	63944624	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	16417	63944624	38586768	11046	14662											
HERC1	8925	broad.mit.edu	37	15	63946458	63946458	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:63946458G>A	ENST00000443617.2	-	51	10237	c.10150C>T	c.(10150-10152)Cgg>Tgg	p.R3384W		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	3384					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						GCCCATTGCCGATGCTGTGAG	0.562													17	20					0	0	1	0	0	A	63946458	G	A	63946458	3	1	81	1	0	0	0	0	1	0	0	0	7098	1057	37	1	4547	1	HERC1	15	63946458	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1834	63946458	38584934	11047	14663											
HERC1	8925	broad.mit.edu	37	15	63948395	63948395	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:63948395G>A	ENST00000443617.2	-	49	9849	c.9762C>T	c.(9760-9762)agC>agT	p.S3254S		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	3254					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						TGTTAGCCTTGCTATGCCCAC	0.532													6	8					0	0	1	0	0	A	63948395	G	A	63948395	2	1	81	1	0	0	0	0	0	0	0	1	7098	1310	46	2		2	HERC1	15	63948395	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1937	63948395	38582997	11048	14664											
HERC1	8925	broad.mit.edu	37	15	63956725	63956725	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:63956725G>A	ENST00000443617.2	-	43	8711	c.8624C>T	c.(8623-8625)gCg>gTg	p.A2875V		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	2875					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						TCTTGTTACCGCTGAGCGACC	0.428													7	42					0	0	1	0	0	A	63956725	G	A	63956725	3	1	81	1	0	0	0	0	1	0	0	0	7098	1087	38	1	6105	1	HERC1	15	63956725	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	8330	63956725	38574667	11049	14665											
HERC1	8925	broad.mit.edu	37	15	64041665	64041665	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:64041665G>T	ENST00000443617.2	-	10	2207	c.2120C>A	c.(2119-2121)aCt>aAt	p.T707N		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	707					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						CTTTGGTTTAGTAATAGGACC	0.408													5	102					5.9392e-07	6.87481e-07	1	1	0	T	64041665	G	T	64041665	3	4	81	1	0	0	0	0	1	0	0	0	7098	1029	36	4	12741	4	HERC1	15	64041665	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	84940	64041665	38489727	11050	14666											
DAPK2	23604	broad.mit.edu	37	15	64231494	64231494	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:64231494G>T	ENST00000261891.3	-	4	525	c.520C>A	c.(520-522)Ctg>Atg	p.L174M	DAPK2_ENST00000558069.1_Missense_Mutation_p.L174M|DAPK2_ENST00000457488.1_Missense_Mutation_p.L174M|DAPK2_ENST00000558482.1_5'UTR			Q9UIK4	DAPK2_HUMAN	death-associated protein kinase 2	174	Protein kinase.				apoptosis|induction of apoptosis|intracellular protein kinase cascade	cytoplasm	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|identical protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|skin(1)|stomach(1)	11				LUAD - Lung adenocarcinoma(2;0.215)		TCGTGAGCCAGACCAAAGTCA	0.368													34	62					2.19358e-23	2.88969e-23	1	1	0	T	64231494	G	T	64231494	3	4	81	1	0	0	0	0	1	0	0	0	4260	933	33	4	624	4	DAPK2	15	64231494	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	189829	64231494	38299898	11051	14667											
DAPK2	23604	broad.mit.edu	37	15	64275811	64275811	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:64275811G>A	ENST00000261891.3	-	2	240	c.235C>T	c.(235-237)Cgg>Tgg	p.R79W	DAPK2_ENST00000558069.1_Missense_Mutation_p.R79W|DAPK2_ENST00000457488.1_Missense_Mutation_p.R79W|DAPK2_ENST00000558482.1_5'UTR			Q9UIK4	DAPK2_HUMAN	death-associated protein kinase 2	79	Protein kinase.				apoptosis|induction of apoptosis|intracellular protein kinase cascade	cytoplasm	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|identical protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|skin(1)|stomach(1)	11				LUAD - Lung adenocarcinoma(2;0.215)		AGCACCTGCCGCAGGATGCTC	0.637													21	25					0	0	1	0	0	A	64275811	G	A	64275811	3	1	81	1	0	0	0	0	1	0	0	0	4260	1086	38	1	917	1	DAPK2	15	64275811	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	44317	64275811	38255581	11052	14668											
SNX1	6642	broad.mit.edu	37	15	64424038	64424038	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:64424038T>A	ENST00000353874.4	+	11	1204	c.1168T>A	c.(1168-1170)Ttc>Atc	p.F390I	SNX1_ENST00000561026.1_Missense_Mutation_p.F325I|SNX1_ENST00000560829.1_Missense_Mutation_p.F172I|SNX1_ENST00000559844.1_Missense_Mutation_p.F390I|SNX1_ENST00000559339.1_3'UTR|SNX1_ENST00000261889.5_Missense_Mutation_p.F390I			Q13596	SNX1_HUMAN	sorting nexin 1	390	BAR.				cell communication|early endosome to Golgi transport|endocytosis|intracellular protein transport	early endosome membrane|Golgi apparatus	phosphatidylinositol binding|protein binding|protein transporter activity			breast(1)|endometrium(1)|large_intestine(5)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	13						CAATGACTTCTTCCTCCTTGC	0.512													31	52					0	0	1	0	0	A	64424038	T	A	64424038	3	1	81	1	0	0	0	0	1	0	0	0	14934	1609	56	5	1210	5	SNX1	15	64424038	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	148227	64424038	38107354	11053	14669											
KIAA0101	9768	broad.mit.edu	37	15	64658213	64658213	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:64658213G>T	ENST00000380258.2	-	3	261	c.189C>A	c.(187-189)atC>atA	p.I63I	KIAA0101_ENST00000300035.4_3'UTR|CTD-2116N17.1_ENST00000606793.1_Intron|KIAA0101_ENST00000559519.1_3'UTR|CTD-2116N17.1_ENST00000558783.1_Intron|KIAA0101_ENST00000558008.1_3'UTR	NM_001029989.1	NP_001025160.1	Q15004	PAF_HUMAN	KIAA0101	0						mitochondrion|nucleus				central_nervous_system(1)|lung(1)|upper_aerodigestive_tract(1)	3						GTTATTCAAAGATGAATGAGA	0.328													17	25					0.000422831	0.00045788	1	1	0	T	64658213	G	T	64658213	2	4	81	1	0	0	0	0	0	0	0	1	8197	932	33	4		4	KIAA0101	15	64658213	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	234175	64658213	37873179	11054	14670											
TRIP4	9325	broad.mit.edu	37	15	64687687	64687687	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:64687687C>A	ENST00000261884.3	+	3	422	c.362C>A	c.(361-363)cCt>cAt	p.P121H	TRIP4_ENST00000559565.1_3'UTR	NM_016213.4	NP_057297.2	Q15650	TRIP4_HUMAN	thyroid hormone receptor interactor 4	121					positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	ligand-dependent nuclear receptor binding|transcription coactivator activity|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21						TTTACTGAACCTGACACGACT	0.413													16	101					2.35188e-11	2.91332e-11	1	1	0	A	64687687	C	A	64687687	3	1	81	1	0	0	0	0	1	0	0	0	16619	681	24	4	372	4	TRIP4	15	64687687	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	29474	64687687	37843705	11055	14671											
ZNF609	23060	broad.mit.edu	37	15	64791910	64791910	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:64791910G>T	ENST00000326648.3	+	1	420	c.292G>T	c.(292-294)Gac>Tac	p.D98Y	ZNF609_ENST00000416172.1_Missense_Mutation_p.D98Y	NM_015042.1	NP_055857.1	O15014	ZN609_HUMAN	zinc finger protein 609	98						nucleus	zinc ion binding			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GAGTGGCAAAGACACTAGCAA	0.532													23	63					2.32416e-17	2.99827e-17	1	1	0	T	64791910	G	T	64791910	3	4	81	1	0	0	0	0	1	0	0	0	18092	942	33	4	294	4	ZNF609	15	64791910	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	104223	64791910	37739482	11056	14672											
ZNF609	23060	broad.mit.edu	37	15	64792015	64792015	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:64792015G>T	ENST00000326648.3	+	1	525	c.397G>T	c.(397-399)Ggc>Tgc	p.G133C	ZNF609_ENST00000416172.1_Missense_Mutation_p.G133C	NM_015042.1	NP_055857.1	O15014	ZN609_HUMAN	zinc finger protein 609	133						nucleus	zinc ion binding			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CAATGCTGGAGGCCTGGTTGC	0.567													3	31					0.115264	0.117126	1	1	0	T	64792015	G	T	64792015	3	4	81	1	0	0	0	0	1	0	0	0	18092	1000	35	4	399	4	ZNF609	15	64792015	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	105	64792015	37739377	11057	14673											
ZNF609	23060	broad.mit.edu	37	15	64967929	64967929	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:64967929C>T	ENST00000326648.3	+	4	3004	c.2876C>T	c.(2875-2877)tCg>tTg	p.S959L		NM_015042.1	NP_055857.1	O15014	ZN609_HUMAN	zinc finger protein 609	959						nucleus	zinc ion binding			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CAGCAGCCCTCGGTCATCCAG	0.507													11	101					0	0	1	0	0	T	64967929	C	T	64967929	3	4	81	1	0	0	0	0	1	0	0	0	18092	893	31	1	2890	1	ZNF609	15	64967929	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	175914	64967929	37563463	11058	14674											
OAZ2	4947	broad.mit.edu	37	15	64982604	64982604	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:64982604C>A	ENST00000326005.6	-	4	554	c.322G>T	c.(322-324)Gat>Tat	p.D108Y	OAZ2_ENST00000560837.1_5'UTR|OAZ2_ENST00000560258.2_Missense_Mutation_p.D108Y|OAZ2_ENST00000559753.1_5'UTR			O95190	OAZ2_HUMAN	ornithine decarboxylase antizyme 2	108					polyamine metabolic process|regulation of cellular amino acid metabolic process	cytosol|nucleus	ornithine decarboxylase inhibitor activity|protein binding									L-Ornithine(DB00129)	AATAATCCATCTGGGATTTCT	0.488													12	163					5.50884e-06	6.24461e-06	1	1	0	A	64982604	C	A	64982604	3	1	81	1	0	0	0	0	1	0	0	0	10853	913	32	4	259	4	OAZ2	15	64982604	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	14675	64982604	37548788	11059	14675											
PIF1	80119	broad.mit.edu	37	15	65108796	65108796	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:65108796G>A	ENST00000268043.4	-	12	1937	c.1843C>T	c.(1843-1845)Cgg>Tgg	p.R615W	PIF1_ENST00000559239.1_Missense_Mutation_p.R615W|PIF1_ENST00000333425.6_Missense_Mutation_p.R615W			Q9H611	PIF1_HUMAN	PIF1 5'-to-3' DNA helicase	615	Hydrolyzes ATP in the presence of both magnesium and single-stranded DNA; weak activity in the presence of RNA or double-stranded DNA; No unwinding activity.				negative regulation of telomerase activity|regulation of telomere maintenance|viral genome replication	nuclear chromosome, telomeric region	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' DNA/RNA helicase activity|magnesium ion binding|single-stranded DNA-dependent ATP-dependent DNA helicase activity|telomeric DNA binding			kidney(1)|lung(1)	2						CTGCCCCGCCGCAGGGTGGCA	0.672													26	40					0	0	1	0	0	A	65108796	G	A	65108796	3	1	81	1	0	0	0	0	1	0	0	0	11931	1086	38	1	90	1	PIF1	15	65108796	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	126192	65108796	37422596	11060	14676											
PIF1	80119	broad.mit.edu	37	15	65114749	65114749	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:65114749G>A	ENST00000268043.4	-	3	713	c.619C>T	c.(619-621)Ctt>Ttt	p.L207F	PIF1_ENST00000559239.1_Missense_Mutation_p.L207F|PIF1_ENST00000333425.6_Missense_Mutation_p.L207F			Q9H611	PIF1_HUMAN	PIF1 5'-to-3' DNA helicase	207	Hydrolyzes ATP in the presence of both magnesium and single-stranded DNA; weak activity in the presence of RNA or double-stranded DNA; No unwinding activity.				negative regulation of telomerase activity|regulation of telomere maintenance|viral genome replication	nuclear chromosome, telomeric region	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' DNA/RNA helicase activity|magnesium ion binding|single-stranded DNA-dependent ATP-dependent DNA helicase activity|telomeric DNA binding			kidney(1)|lung(1)	2						TCCTCAGAAAGCTGTGGCTTG	0.622													14	15					0	0	1	0	0	A	65114749	G	A	65114749	3	1	81	1	0	0	0	0	1	0	0	0	11931	971	34	2	1350	2	PIF1	15	65114749	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	5953	65114749	37416643	11061	14677											
ANKDD1A	348094	broad.mit.edu	37	15	65218321	65218321	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:65218321G>A	ENST00000380230.3	+	5	452	c.423G>A	c.(421-423)gcG>gcA	p.A141A	ANKDD1A_ENST00000395723.1_Silent_p.A50A|ANKDD1A_ENST00000395720.1_Silent_p.A141A|ANKDD1A_ENST00000496660.1_Silent_p.A50A|ANKDD1A_ENST00000491145.1_3'UTR|ANKDD1A_ENST00000319580.8_3'UTR|AC069368.3_ENST00000437723.1_Intron|ANKDD1A_ENST00000357698.3_Silent_p.A141A	NM_182703.3	NP_874362.3	Q495B1	AKD1A_HUMAN	ankyrin repeat and death domain containing 1A	141					signal transduction					NS(1)|endometrium(1)|large_intestine(10)|liver(2)|lung(4)|ovary(1)|prostate(2)	21						CTGTGCTGGCGTTCATAATGG	0.592													9	9					0	0	1	0	0	A	65218321	G	A	65218321	2	1	81	1	0	0	0	0	0	0	0	1	620	1132	40	1		1	ANKDD1A	15	65218321	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	103572	65218321	37313071	11062	14678											
ANKDD1A	348094	broad.mit.edu	37	15	65223741	65223741	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:65223741G>T	ENST00000380230.3	+	8	755	c.726G>T	c.(724-726)caG>caT	p.Q242H	ANKDD1A_ENST00000395723.1_Missense_Mutation_p.Q151H|ANKDD1A_ENST00000395720.1_Missense_Mutation_p.Q242H|ANKDD1A_ENST00000496660.1_Missense_Mutation_p.Q151H|ANKDD1A_ENST00000491145.1_3'UTR|ANKDD1A_ENST00000319580.8_3'UTR|ANKDD1A_ENST00000357698.3_Missense_Mutation_p.Q242H	NM_182703.3	NP_874362.3	Q495B1	AKD1A_HUMAN	ankyrin repeat and death domain containing 1A	242					signal transduction					NS(1)|endometrium(1)|large_intestine(10)|liver(2)|lung(4)|ovary(1)|prostate(2)	21						ACTGTGTGCAGCTCCTCCTCA	0.622													13	15					1.61879e-10	1.98515e-10	1	1	0	T	65223741	G	T	65223741	3	4	81	1	0	0	0	0	1	0	0	0	620	962	34	4	756	4	ANKDD1A	15	65223741	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	5420	65223741	37307651	11063	14679											
SPG21	51324	broad.mit.edu	37	15	65275859	65275859	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:65275859C>T	ENST00000204566.2	-	2	344	c.49G>A	c.(49-51)Gtt>Att	p.V17I	SPG21_ENST00000560564.1_Intron|SPG21_ENST00000416889.2_Missense_Mutation_p.V17I|SPG21_ENST00000433215.2_Missense_Mutation_p.V17I	NM_016630.3	NP_057714.1	Q9NZD8	SPG21_HUMAN	spastic paraplegia 21 (autosomal recessive, Mast syndrome)	17					cell death	cytosol|endosome membrane|trans-Golgi network transport vesicle	CD4 receptor binding			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|urinary_tract(1)	10						TTAAGGGGAACTGTACCTCTA	0.333													4	4					0	0	1	0	0	T	65275859	C	T	65275859	3	4	81	1	0	0	0	0	1	0	0	0	15099	565	20	2	909	2	SPG21	15	65275859	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	52118	65275859	37255533	11064	14680											
MTFMT	123263	broad.mit.edu	37	15	65308798	65308798	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:65308798T>G	ENST00000220058.4	-	6	802	c.789A>C	c.(787-789)agA>agC	p.R263S		NM_139242.3	NP_640335.2	Q96DP5	FMT_HUMAN	mitochondrial methionyl-tRNA formyltransferase	263						mitochondrion	methionyl-tRNA formyltransferase activity|methyltransferase activity			endometrium(1)|large_intestine(3)|lung(3)|ovary(3)	10					Tetrahydrofolic acid(DB00116)	CACGGTAAAGTCTGAATATTT	0.348													34	71					0	0	1	0	0	G	65308798	T	G	65308798	3	3	81	1	0	0	0	0	1	0	0	0	9972	1664	58	5	396	5	MTFMT	15	65308798	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	32939	65308798	37222594	11065	14681											
CLPX	10845	broad.mit.edu	37	15	65472481	65472481	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:65472481C>T	ENST00000300107.3	-	2	329	c.141G>A	c.(139-141)caG>caA	p.Q47Q		NM_006660.3	NP_006651.2	O76031	CLPX_HUMAN	caseinolytic mitochondrial matrix peptidase chaperone subunit	47					protein folding|proteolysis involved in cellular protein catabolic process	mitochondrial endopeptidase Clp complex|mitochondrial inner membrane|mitochondrial nucleoid	ATP binding|ATPase activity|metal ion binding|peptidase activator activity|unfolded protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1)|skin(2)	16						TTTGCAGAATCTGAGTTTCAA	0.383													26	60					0	0	1	0	0	T	65472481	C	T	65472481	2	4	81	1	0	0	0	0	0	0	0	1	3579	912	32	2		2	CLPX	15	65472481	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	163683	65472481	37058911	11066	14682											
CLPX	10845	broad.mit.edu	37	15	65472527	65472527	+	Missense_Mutation	SNP	C	C	T	rs142954778	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:65472527C>T	ENST00000300107.3	-	2	283	c.95G>A	c.(94-96)cGc>cAc	p.R32H		NM_006660.3	NP_006651.2	O76031	CLPX_HUMAN	caseinolytic mitochondrial matrix peptidase chaperone subunit	32					protein folding|proteolysis involved in cellular protein catabolic process	mitochondrial endopeptidase Clp complex|mitochondrial inner membrane|mitochondrial nucleoid	ATP binding|ATPase activity|metal ion binding|peptidase activator activity|unfolded protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1)|skin(2)	16						CATATGAATGCGACCACCAGA	0.388													26	44					0	0	1	0	0	T	65472527	C	T	65472527	3	4	81	1	0	0	0	0	1	0	0	0	3579	768	27	1	1858	1	CLPX	15	65472527	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	46	65472527	37058865	11067	14683											
PARP16	54956	broad.mit.edu	37	15	65553256	65553256	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:65553256T>C	ENST00000261888.6	-	5	1245	c.800A>G	c.(799-801)tAc>tGc	p.Y267C	PARP16_ENST00000444347.2_Missense_Mutation_p.Y152C	NM_017851.4	NP_060321.3	Q8N5Y8	PAR16_HUMAN	poly (ADP-ribose) polymerase family, member 16	267	PARP catalytic.					integral to membrane	NAD+ ADP-ribosyltransferase activity			kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)	9						CACCAGGAGGTACTTCACTCG	0.483													15	141					0	0	1	0	0	C	65553256	T	C	65553256	3	2	81	1	0	0	0	0	1	0	0	0	11507	1638	57	3	179	3	PARP16	15	65553256	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	80729	65553256	36978136	11068	14684											
PARP16	54956	broad.mit.edu	37	15	65558947	65558947	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:65558947T>G	ENST00000261888.6	-	3	917	c.472A>C	c.(472-474)Aac>Cac	p.N158H	PARP16_ENST00000558873.1_5'UTR|PARP16_ENST00000444347.2_Intron	NM_017851.4	NP_060321.3	Q8N5Y8	PAR16_HUMAN	poly (ADP-ribose) polymerase family, member 16	158	PARP catalytic.					integral to membrane	NAD+ ADP-ribosyltransferase activity			kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)	9						GAATGGAAGTTTTCTAGGCGG	0.493													23	45					0	0	1	0	0	G	65558947	T	G	65558947	3	3	81	1	0	0	0	0	1	0	0	0	11507	1841	64	5	515	5	PARP16	15	65558947	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	5691	65558947	36972445	11069	14685											
IGDCC3	9543	broad.mit.edu	37	15	65621802	65621802	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:65621802G>A	ENST00000327987.4	-	13	2382	c.2131C>T	c.(2131-2133)Cgt>Tgt	p.R711C		NM_004884.3	NP_004875.2	Q8IVU1	IGDC3_HUMAN	immunoglobulin superfamily, DCC subclass, member 3	711								p.R711C(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						ATATCCACACGTTTCTCGTCT	0.652													62	90					0	0	1	0	0	A	65621802	G	A	65621802	3	1	81	1	0	0	0	0	1	0	0	0	7612	1145	40	1	321	1	IGDCC3	15	65621802	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	62855	65621802	36909590	11070	14686											
IGDCC3	9543	broad.mit.edu	37	15	65625621	65625621	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:65625621G>A	ENST00000327987.4	-	6	1207	c.956C>T	c.(955-957)aCg>aTg	p.T319M	IGDCC3_ENST00000559231.1_5'UTR	NM_004884.3	NP_004875.2	Q8IVU1	IGDC3_HUMAN	immunoglobulin superfamily, DCC subclass, member 3	319	Ig-like C2-type 3.									breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						GCCCTGTGCCGTTCTCCTCAC	0.637													5	32					0	0	1	0	0	A	65625621	G	A	65625621	3	1	81	1	0	0	0	0	1	0	0	0	7612	1145	40	1	1524	1	IGDCC3	15	65625621	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	3819	65625621	36905771	11071	14687											
DPP8	54878	broad.mit.edu	37	15	65739321	65739321	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:65739321G>A	ENST00000341861.5	-	20	4178	c.2598C>T	c.(2596-2598)agC>agT	p.S866S	DPP8_ENST00000321147.6_Silent_p.S815S|DPP8_ENST00000559233.1_Silent_p.S866S|DPP8_ENST00000358939.4_Silent_p.S750S|DPP8_ENST00000300141.6_Silent_p.S850S|DPP8_ENST00000321118.7_Silent_p.S817S|DPP8_ENST00000339244.5_Silent_p.S693S	NM_197960.2	NP_932064.1	Q6V1X1	DPP8_HUMAN	dipeptidyl-peptidase 8	866					immune response|proteolysis	cytoplasm|membrane|nucleus	aminopeptidase activity|dipeptidyl-peptidase activity|serine-type peptidase activity			NS(1)|breast(2)|endometrium(3)|large_intestine(11)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						GAACTCTTATGCTGTGTCTCT	0.343													25	79					0	0	1	0	0	A	65739321	G	A	65739321	2	1	81	1	0	0	0	0	0	0	0	1	4758	1310	46	2		2	DPP8	15	65739321	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	113700	65739321	36792071	11072	14688											
DPP8	54878	broad.mit.edu	37	15	65759506	65759506	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:65759506G>T	ENST00000341861.5	-	13	3220	c.1640C>A	c.(1639-1641)cCt>cAt	p.P547H	DPP8_ENST00000321147.6_Missense_Mutation_p.P547H|DPP8_ENST00000559233.1_Missense_Mutation_p.P547H|DPP8_ENST00000358939.4_Missense_Mutation_p.P531H|DPP8_ENST00000300141.6_Missense_Mutation_p.P531H|DPP8_ENST00000321118.7_Missense_Mutation_p.P547H|DPP8_ENST00000339244.5_Missense_Mutation_p.P374H	NM_197960.2	NP_932064.1	Q6V1X1	DPP8_HUMAN	dipeptidyl-peptidase 8	547					immune response|proteolysis	cytoplasm|membrane|nucleus	aminopeptidase activity|dipeptidyl-peptidase activity|serine-type peptidase activity			NS(1)|breast(2)|endometrium(3)|large_intestine(11)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						ATGCTCTAAAGGGGAGTCTTT	0.443													7	46					8.12818e-05	8.94031e-05	1	1	0	T	65759506	G	T	65759506	3	4	81	1	0	0	0	0	1	0	0	0	4758	1000	35	4	1088	4	DPP8	15	65759506	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	20185	65759506	36771886	11073	14689											
DENND4A	10260	broad.mit.edu	37	15	65959878	65959879	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:65959878_65959879insA	ENST00000443035.3	-	29	5361_5362	c.5146_5147insT	c.(5146-5148)tggfs	p.W1716fs	DENND4A_ENST00000431932.2_Frame_Shift_Ins_p.W1673fs	NM_001144823.1	NP_001138295.1	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A	1673					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						TACCAGGTTCCAAAAAACAATT	0.386													32	48	---	---	---	---						A	65959879	-	A	65959878	7	5	81	1	0	1	1	0	0	0	0	0	4461	595	21	0	593	0	DENND4A	15	65959878	Frame_Shift_Ins	INS	-	TCGA-DU-6392-01A-11D-1705-08	200372	65959878	36571514	11074	14690											
DENND4A	10260	broad.mit.edu	37	15	65960372	65960372	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:65960372A>C	ENST00000443035.3	-	28	5089	c.4874T>G	c.(4873-4875)tTt>tGt	p.F1625C	DENND4A_ENST00000431932.2_Missense_Mutation_p.F1582C	NM_001144823.1	NP_001138295.1	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A	1582					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						GGCCATTGGAAATATTGGACA	0.413													4	55					0	0	1	0	0	C	65960372	A	C	65960372	3	2	81	1	0	0	0	0	1	0	0	0	4461	14	1	5	870	5	DENND4A	15	65960372	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	494	65960372	36571020	11075	14691											
DENND4A	10260	broad.mit.edu	37	15	66031164	66031164	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:66031164C>T	ENST00000443035.3	-	6	896	c.681G>A	c.(679-681)ccG>ccA	p.P227P	DENND4A_ENST00000431932.2_Silent_p.P227P	NM_001144823.1	NP_001138295.1	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A	227	UDENN.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						GAACAGATTCCGGTAGTGAGA	0.338													16	32					0	0	1	0	0	T	66031164	C	T	66031164	2	4	81	1	0	0	0	0	0	0	0	1	4461	639	23	1		1	DENND4A	15	66031164	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	70792	66031164	36500228	11076	14692											
MEGF11	84465	broad.mit.edu	37	15	66190420	66190420	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:66190420C>T	ENST00000409699.2	-	23	3159	c.2987G>A	c.(2986-2988)aGt>aAt	p.S996N	MEGF11_ENST00000288745.3_Missense_Mutation_p.S921N|MEGF11_ENST00000422354.1_Missense_Mutation_p.S996N|MEGF11_ENST00000395625.2_Missense_Mutation_p.S921N|MEGF11_ENST00000360698.4_3'UTR			A6BM72	MEG11_HUMAN	multiple EGF-like-domains 11	996						basolateral plasma membrane|integral to membrane				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	19						TTGGACCACACTGACTGTGGG	0.448													5	24					0	0	1	0	0	T	66190420	C	T	66190420	3	4	81	1	0	0	0	0	1	0	0	0	9511	565	20	2	151	2	MEGF11	15	66190420	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	159256	66190420	36340972	11077	14693											
LCTL	197021	broad.mit.edu	37	15	66845562	66845562	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:66845562C>T	ENST00000341509.5	-	9	1088	c.957G>A	c.(955-957)tcG>tcA	p.S319S	LCTL_ENST00000537670.1_Silent_p.S146S	NM_207338.2	NP_997221.2	Q6UWM7	LCTL_HUMAN	lactase-like	319					carbohydrate metabolic process	endoplasmic reticulum membrane|integral to membrane	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CCGGTAACCTCGACATCTCCA	0.423													15	154					0	0	1	0	0	T	66845562	C	T	66845562	2	4	81	1	0	0	0	0	0	0	0	1	8733	871	31	1		1	LCTL	15	66845562	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	655142	66845562	35685830	11078	14694											
LCTL	197021	broad.mit.edu	37	15	66855883	66855883	+	Missense_Mutation	SNP	C	C	T	rs142935775		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:66855883C>T	ENST00000341509.5	-	4	582	c.451G>A	c.(451-453)Gtg>Atg	p.V151M	LCTL_ENST00000537670.1_De_novo_Start_InFrame	NM_207338.2	NP_997221.2	Q6UWM7	LCTL_HUMAN	lactase-like	151					carbohydrate metabolic process	endoplasmic reticulum membrane|integral to membrane	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TGCAAGGTCACGATGGGAGTG	0.527													12	22					0	0	1	0	0	T	66855883	C	T	66855883	3	4	81	1	0	0	0	0	1	0	0	0	8733	536	19	1	1292	1	LCTL	15	66855883	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	10321	66855883	35675509	11079	14695											
SMAD3	4088	broad.mit.edu	37	15	67473662	67473662	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:67473662T>G	ENST00000327367.4	+	6	1052	c.742T>G	c.(742-744)Ttc>Gtc	p.F248V	SMAD3_ENST00000540846.2_Missense_Mutation_p.F143V|SMAD3_ENST00000537194.2_Missense_Mutation_p.F53V|SMAD3_ENST00000439724.3_Missense_Mutation_p.F204V	NM_005902.3	NP_005893.1	P84022	SMAD3_HUMAN	SMAD family member 3	248	MH2.				activation of caspase activity|cell cycle arrest|cell-cell junction organization|evasion of host defenses by virus|immune response|induction of apoptosis|negative regulation of cell growth|negative regulation of mitotic cell cycle|negative regulation of protein catabolic process|negative regulation of protein phosphorylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|primary miRNA processing|protein stabilization|regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway|transport|wound healing	cytosol|nuclear inner membrane|receptor complex	beta-catenin binding|co-SMAD binding|metal ion binding|protein homodimerization activity|protein kinase binding|R-SMAD binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transforming growth factor beta receptor binding|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|ubiquitin protein ligase binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(11)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31				Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(7;0.125)		CGGGGAGACATTCCACGCCTC	0.602													3	36					0	0	1	0	0	G	67473662	T	G	67473662	3	3	81	1	0	0	0	0	1	0	0	0	14813	1493	52	4	842	4	SMAD3	15	67473662	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	617779	67473662	35057730	11080	14696											
SMAD3	4088	broad.mit.edu	37	15	67477152	67477152	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:67477152G>A	ENST00000327367.4	+	7	1269	c.959G>A	c.(958-960)tGt>tAt	p.C320Y	SMAD3_ENST00000540846.2_Missense_Mutation_p.C215Y|SMAD3_ENST00000537194.2_Missense_Mutation_p.C125Y|SMAD3_ENST00000439724.3_Missense_Mutation_p.C276Y	NM_005902.3	NP_005893.1	P84022	SMAD3_HUMAN	SMAD family member 3	320	MH2.|Sufficient for interaction with XPO4.				activation of caspase activity|cell cycle arrest|cell-cell junction organization|evasion of host defenses by virus|immune response|induction of apoptosis|negative regulation of cell growth|negative regulation of mitotic cell cycle|negative regulation of protein catabolic process|negative regulation of protein phosphorylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|primary miRNA processing|protein stabilization|regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway|transport|wound healing	cytosol|nuclear inner membrane|receptor complex	beta-catenin binding|co-SMAD binding|metal ion binding|protein homodimerization activity|protein kinase binding|R-SMAD binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transforming growth factor beta receptor binding|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|ubiquitin protein ligase binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(11)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31				Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(7;0.125)		TCTCCCAACTGTAACCAGCGC	0.592													11	59					0	0	1	0	0	A	67477152	G	A	67477152	3	1	81	1	0	0	0	0	1	0	0	0	14813	1377	48	2	1063	2	SMAD3	15	67477152	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	3490	67477152	35054240	11081	14697											
IQCH	64799	broad.mit.edu	37	15	67664560	67664560	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:67664560G>T	ENST00000335894.4	+	9	931	c.865G>T	c.(865-867)Gaa>Taa	p.E289*	IQCH_ENST00000358767.3_Nonsense_Mutation_p.E116*|IQCH_ENST00000546225.1_Nonsense_Mutation_p.E37*|IQCH_ENST00000360277.4_Nonsense_Mutation_p.E41*	NM_001031715.2	NP_001026885	Q86VS3	IQCH_HUMAN	IQ motif containing H	289										NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1)	33				Colorectal(3;0.0856)		AGCATTCAAGGAACATTTTAG	0.388													8	89					0.00307968	0.00324365	1	1	0	T	67664560	G	T	67664560	4	4	81	1	0	0	0	0	0	1	0	0	7855	1175	41	5	1027	5	IQCH	15	67664560	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	187408	67664560	34866832	11082	14698											
MAP2K5	5607	broad.mit.edu	37	15	67985893	67985893	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:67985893A>C	ENST00000178640.5	+	15	1586	c.959A>C	c.(958-960)aAt>aCt	p.N320T	MAP2K5_ENST00000354498.5_Missense_Mutation_p.N284T|MAP2K5_ENST00000395476.2_Missense_Mutation_p.N320T|MAP2K5_ENST00000340972.4_Missense_Mutation_p.N130T	NM_145160.2	NP_660143.1	Q13163	MP2K5_HUMAN	mitogen-activated protein kinase kinase 5	320	Protein kinase.				nerve growth factor receptor signaling pathway		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|skin(1)	16						GTTGGAACAAATGCTTATATG	0.294													6	54					0	0	1	0	0	C	67985893	A	C	67985893	3	2	81	1	0	0	0	0	1	0	0	0	9290	101	4	4	1017	4	MAP2K5	15	67985893	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	321333	67985893	34545499	11083	14699											
PIAS1	8554	broad.mit.edu	37	15	68378743	68378743	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:68378743C>A	ENST00000545237.1	+	3	871	c.130C>A	c.(130-132)Ctg>Atg	p.L44M	PIAS1_ENST00000249636.6_Missense_Mutation_p.L42M			O75925	PIAS1_HUMAN	protein inhibitor of activated STAT, 1	42	SAP.				androgen receptor signaling pathway|interferon-gamma-mediated signaling pathway|JAK-STAT cascade|positive regulation of protein sumoylation|positive regulation of transcription, DNA-dependent|regulation of interferon-gamma-mediated signaling pathway|transcription, DNA-dependent	nuclear speck	androgen receptor binding|DNA binding|enzyme binding|SUMO ligase activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)	24						CACAAAAGCCCTGCATTTGCT	0.483													4	29					1	1	1	1	0	A	68378743	C	A	68378743	3	1	81	1	0	0	0	0	1	0	0	0	11923	680	24	4	130	4	PIAS1	15	68378743	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	392850	68378743	34152649	11084	14700											
PIAS1	8554	broad.mit.edu	37	15	68468894	68468894	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:68468894C>T	ENST00000545237.1	+	12	2130	c.1389C>T	c.(1387-1389)gaC>gaT	p.D463D	PIAS1_ENST00000567417.1_3'UTR|PIAS1_ENST00000249636.6_Silent_p.D461D			O75925	PIAS1_HUMAN	protein inhibitor of activated STAT, 1	461	SUMO1-binding (By similarity).				androgen receptor signaling pathway|interferon-gamma-mediated signaling pathway|JAK-STAT cascade|positive regulation of protein sumoylation|positive regulation of transcription, DNA-dependent|regulation of interferon-gamma-mediated signaling pathway|transcription, DNA-dependent	nuclear speck	androgen receptor binding|DNA binding|enzyme binding|SUMO ligase activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)	24						AAGTGATTGACCTAACCATAG	0.433													9	83					0	0	1	0	0	T	68468894	C	T	68468894	2	4	81	1	0	0	0	0	0	0	0	1	11923	506	18	2		2	PIAS1	15	68468894	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	90151	68468894	34062498	11085	14701											
FEM1B	10116	broad.mit.edu	37	15	68583125	68583125	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:68583125C>A	ENST00000306917.4	+	2	2044	c.1429C>A	c.(1429-1431)Ctt>Att	p.L477I		NM_015322.4	NP_056137.1	Q9UK73	FEM1B_HUMAN	fem-1 homolog b (C. elegans)	477					apoptosis|induction of apoptosis|regulation of DNA damage checkpoint|regulation of ubiquitin-protein ligase activity	cytoplasm|nucleus	death receptor binding|ubiquitin-protein ligase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	9						CCTGATTCACCTTGATCCCAG	0.433													14	109					3.45872e-05	3.85959e-05	1	1	0	A	68583125	C	A	68583125	3	1	81	1	0	0	0	0	1	0	0	0	5843	681	24	4	1435	4	FEM1B	15	68583125	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	114231	68583125	33948267	11086	14702											
CORO2B	10391	broad.mit.edu	37	15	69003117	69003117	+	Missense_Mutation	SNP	C	C	T	rs144874326		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:69003117C>T	ENST00000543950.1	+	4	719	c.365C>T	c.(364-366)aCg>aTg	p.T122M	CORO2B_ENST00000566799.1_Missense_Mutation_p.T127M|CORO2B_ENST00000261861.5_Missense_Mutation_p.T122M|CORO2B_ENST00000540068.1_Missense_Mutation_p.T122M	NM_001190457.1	NP_001177386.1	Q9UQ03	COR2B_HUMAN	coronin, actin binding protein, 2B	127					actin cytoskeleton organization	actin cytoskeleton|cytoplasm|membrane	actin filament binding			kidney(3)|large_intestine(13)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						CGGAACATGACGGAGGCGCTC	0.657													7	12					0	0	1	0	0	T	69003117	C	T	69003117	3	4	81	1	0	0	0	0	1	0	0	0	3780	536	19	1	394	1	CORO2B	15	69003117	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	419992	69003117	33528275	11087	14703											
SPESP1	246777	broad.mit.edu	37	15	69238356	69238356	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:69238356G>T	ENST00000310673.3	+	2	637	c.483G>T	c.(481-483)atG>atT	p.M161I	NOX5_ENST00000455873.3_Intron|NOX5_ENST00000448182.3_Intron|RP11-809H16.2_ENST00000557966.1_RNA|NOX5_ENST00000260364.5_Intron|SPESP1_ENST00000560188.1_3'UTR	NM_145658.3	NP_663633.1	Q6UW49	SPESP_HUMAN	sperm equatorial segment protein 1	161					multicellular organismal development	acrosomal vesicle				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	19						CACCAAGAATGTTGCCAGTTG	0.438													38	54					4.92203e-23	6.47644e-23	1	1	0	T	69238356	G	T	69238356	3	4	81	1	0	0	0	0	1	0	0	0	15096	1377	48	5	489	5	SPESP1	15	69238356	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	235239	69238356	33293036	11088	14704											
NOX5	79400	broad.mit.edu	37	15	69329520	69329520	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:69329520C>T	ENST00000260364.5	+	9	1588	c.1287C>T	c.(1285-1287)tgC>tgT	p.C429C	NOX5_ENST00000455873.3_Silent_p.C412C|NOX5_ENST00000448182.3_Silent_p.C401C|NOX5_ENST00000388866.3_Silent_p.C447C|NOX5_ENST00000530406.2_Silent_p.C419C			Q96PH1	NOX5_HUMAN	NADPH oxidase, EF-hand calcium binding domain 5	447	Ferric oxidoreductase.				angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation	endoplasmic reticulum|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|NADP binding|superoxide-generating NADPH oxidase activity			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						CAGCCGTGTGCATCATGGAAG	0.577													9	37					0	0	1	0	0	T	69329520	C	T	69329520	2	4	81	1	0	0	0	0	0	0	0	1	10606	718	25	2		2	NOX5	15	69329520	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	91164	69329520	33201872	11089	14705											
KIF23	9493	broad.mit.edu	37	15	69732275	69732275	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:69732275T>C	ENST00000260363.4	+	16	1863	c.1746T>C	c.(1744-1746)taT>taC	p.Y582Y	KIF23_ENST00000352331.4_Silent_p.Y582Y|KIF23_ENST00000395392.2_Silent_p.Y582Y|KIF23_ENST00000558585.1_Silent_p.Y399Y|KIF23_ENST00000559279.1_Silent_p.Y582Y|KIF23_ENST00000537891.1_Silent_p.Y399Y	NM_138555.2	NP_612565.1	Q02241	KIF23_HUMAN	kinesin family member 23	582					blood coagulation|cytokinesis|microtubule-based movement|mitosis|mitotic spindle elongation	cytosol|kinesin complex|microtubule|midbody|nucleoplasm|spindle	ATP binding|microtubule motor activity|protein binding			central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(6)|prostate(2)|skin(1)	21						CTACTATCTATGAGGAAGATA	0.358													10	25					0	0	1	0	0	C	69732275	T	C	69732275	2	2	81	1	0	0	0	0	0	0	0	1	8333	1471	51	3		3	KIF23	15	69732275	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	402755	69732275	32799117	11090	14706											
KIF23	9493	broad.mit.edu	37	15	69733243	69733243	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:69733243C>T	ENST00000260363.4	+	18	2321	c.2204C>T	c.(2203-2205)aCg>aTg	p.T735M	KIF23_ENST00000352331.4_Intron|KIF23_ENST00000395392.2_Missense_Mutation_p.T735M|KIF23_ENST00000558585.1_Intron|KIF23_ENST00000559279.1_Intron|KIF23_ENST00000537891.1_Intron	NM_138555.2	NP_612565.1	Q02241	KIF23_HUMAN	kinesin family member 23	735					blood coagulation|cytokinesis|microtubule-based movement|mitosis|mitotic spindle elongation	cytosol|kinesin complex|microtubule|midbody|nucleoplasm|spindle	ATP binding|microtubule motor activity|protein binding			central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(6)|prostate(2)|skin(1)	21						AAAATTCCTACGTACAACACA	0.493													4	48					0	0	1	0	0	T	69733243	C	T	69733243	3	4	81	1	0	0	0	0	1	0	0	0	8333	536	19	1	2274	1	KIF23	15	69733243	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	968	69733243	32798149	11091	14707											
TLE3	7090	broad.mit.edu	37	15	70347546	70347546	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:70347546C>T	ENST00000558939.1	-	15	2806	c.1429G>A	c.(1429-1431)Gcc>Acc	p.A477T	TLE3_ENST00000557907.1_Missense_Mutation_p.A469T|TLE3_ENST00000557997.1_Missense_Mutation_p.A469T|TLE3_ENST00000559929.1_Missense_Mutation_p.A487T|TLE3_ENST00000442299.2_Missense_Mutation_p.A469T|TLE3_ENST00000560939.1_Missense_Mutation_p.A479T|TLE3_ENST00000317509.8_Missense_Mutation_p.A465T|TLE3_ENST00000558201.1_Missense_Mutation_p.A483T|TLE3_ENST00000440567.3_Missense_Mutation_p.A467T|TLE3_ENST00000539550.1_Missense_Mutation_p.A404T|TLE3_ENST00000559191.1_Missense_Mutation_p.A58T|TLE3_ENST00000559048.1_Missense_Mutation_p.A477T|TLE3_ENST00000558379.1_Missense_Mutation_p.A472T|TLE3_ENST00000451782.2_Missense_Mutation_p.A474T|TLE3_ENST00000560589.1_Missense_Mutation_p.A421T	NM_001282979.1|NM_001282980.1|NM_001282981.1	NP_001269908.1|NP_001269909.1|NP_001269910.1	Q04726	TLE3_HUMAN	transducin-like enhancer of split 3 (E(sp1) homolog, Drosophila)	477					organ morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding	p.A477T(2)		breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						ATCTGCCGGGCGTGCCTCGGG	0.642													5	43					0	0	1	0	0	T	70347546	C	T	70347546	3	4	81	1	0	0	0	0	1	0	0	0	16000	768	27	1	913	1	TLE3	15	70347546	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	614303	70347546	32183846	11092	14708											
TLE3	7090	broad.mit.edu	37	15	70350628	70350628	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:70350628G>A	ENST00000558939.1	-	12	2298	c.921C>T	c.(919-921)aaC>aaT	p.N307N	TLE3_ENST00000557907.1_Silent_p.N307N|TLE3_ENST00000557997.1_Silent_p.N307N|TLE3_ENST00000559929.1_Silent_p.N317N|TLE3_ENST00000442299.2_Silent_p.N307N|TLE3_ENST00000560939.1_Silent_p.N312N|TLE3_ENST00000317509.8_Silent_p.N307N|TLE3_ENST00000558201.1_Silent_p.N313N|TLE3_ENST00000440567.3_Silent_p.N300N|TLE3_ENST00000539550.1_Silent_p.N251N|TLE3_ENST00000559191.1_Intron|TLE3_ENST00000559048.1_Silent_p.N312N|TLE3_ENST00000558379.1_Silent_p.N307N|TLE3_ENST00000451782.2_Silent_p.N307N|TLE3_ENST00000560589.1_Silent_p.N251N	NM_001282979.1|NM_001282980.1|NM_001282981.1	NP_001269908.1|NP_001269909.1|NP_001269910.1	Q04726	TLE3_HUMAN	transducin-like enhancer of split 3 (E(sp1) homolog, Drosophila)	307	Pro/Ser-rich.				organ morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						AGGATTTGTCGTTCTGAAGAG	0.617													43	84					0	0	1	0	0	A	70350628	G	A	70350628	2	1	81	1	0	0	0	0	0	0	0	1	16000	1136	40	1		1	TLE3	15	70350628	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	3082	70350628	32180764	11093	14709											
UACA	55075	broad.mit.edu	37	15	70959353	70959353	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:70959353C>T	ENST00000322954.6	-	16	3855	c.3670G>A	c.(3670-3672)Gtt>Att	p.V1224I	UACA_ENST00000539319.1_Missense_Mutation_p.V1115I|UACA_ENST00000379983.2_Missense_Mutation_p.V1211I|UACA_ENST00000560441.1_Missense_Mutation_p.V1209I	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and ankyrin repeats	1224						cytoskeleton|extracellular region				breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						GACAAGTCAACTACCTCTCTA	0.338													23	71					0	0	1	0	0	T	70959353	C	T	70959353	3	4	81	1	0	0	0	0	1	0	0	0	16885	565	20	2	596	2	UACA	15	70959353	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	608725	70959353	31572039	11094	14710											
UACA	55075	broad.mit.edu	37	15	70960101	70960101	+	Silent	SNP	G	G	A	rs149154885		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:70960101G>A	ENST00000322954.6	-	16	3107	c.2922C>T	c.(2920-2922)ctC>ctT	p.L974L	UACA_ENST00000539319.1_Silent_p.L865L|UACA_ENST00000379983.2_Silent_p.L961L|UACA_ENST00000560441.1_Silent_p.L959L	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and ankyrin repeats	974						cytoskeleton|extracellular region				breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						GTATTGTGTCGAGCTCCTTCT	0.418													49	67					0	0	1	0	0	A	70960101	G	A	70960101	2	1	81	1	0	0	0	0	0	0	0	1	16885	1045	37	1		1	UACA	15	70960101	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	748	70960101	31571291	11095	14711											
UACA	55075	broad.mit.edu	37	15	70969450	70969450	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:70969450G>A	ENST00000322954.6	-	12	1214	c.1029C>T	c.(1027-1029)agC>agT	p.S343S	UACA_ENST00000539319.1_Silent_p.S234S|UACA_ENST00000379983.2_Silent_p.S330S|UACA_ENST00000560441.1_Silent_p.S330S	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and ankyrin repeats	343						cytoskeleton|extracellular region				breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						ACCCTACCTCGCTTTCCAGAT	0.303													33	43					0	0	1	0	0	A	70969450	G	A	70969450	2	1	81	1	0	0	0	0	0	0	0	1	16885	1078	38	1		1	UACA	15	70969450	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	9349	70969450	31561942	11096	14712											
LARP6	55323	broad.mit.edu	37	15	71125092	71125092	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:71125092C>T	ENST00000299213.8	-	3	845	c.775G>A	c.(775-777)Gcc>Acc	p.A259T		NM_018357.2	NP_060827.2	Q9BRS8	LARP6_HUMAN	La ribonucleoprotein domain family, member 6	259					RNA processing	Golgi apparatus|nucleus|ribonucleoprotein complex	nucleotide binding|RNA binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	19						TCCACGATGGCGCACTCCTGG	0.557													15	34					0	0	1	0	0	T	71125092	C	T	71125092	3	4	81	1	0	0	0	0	1	0	0	0	8671	768	27	1	704	1	LARP6	15	71125092	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	155642	71125092	31406300	11097	14713											
LARP6	55323	broad.mit.edu	37	15	71125303	71125303	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:71125303G>T	ENST00000299213.8	-	3	634	c.564C>A	c.(562-564)gtC>gtA	p.V188V		NM_018357.2	NP_060827.2	Q9BRS8	LARP6_HUMAN	La ribonucleoprotein domain family, member 6	188					RNA processing	Golgi apparatus|nucleus|ribonucleoprotein complex	nucleotide binding|RNA binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	19						AGAGATCATAGACCAGGAGCA	0.557													8	44					1.12685e-05	1.27052e-05	1	1	0	T	71125303	G	T	71125303	2	4	81	1	0	0	0	0	0	0	0	1	8671	929	33	4		4	LARP6	15	71125303	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	211	71125303	31406089	11098	14714											
LRRC49	54839	broad.mit.edu	37	15	71188217	71188217	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:71188217G>A	ENST00000260382.5	+	3	395	c.135G>A	c.(133-135)tcG>tcA	p.S45S	LRRC49_ENST00000544974.2_Silent_p.S35S|LRRC49_ENST00000436542.2_3'UTR|LRRC49_ENST00000560369.1_Silent_p.S50S|LRRC49_ENST00000560691.1_5'UTR|LRRC49_ENST00000443425.2_5'UTR	NM_001199017.1|NM_017691.3	NP_001185946.1|NP_060161.2	Q8IUZ0	LRC49_HUMAN	leucine rich repeat containing 49	45						cytoplasm|microtubule				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(3)|skin(3)	34						AAGACACATCGTCATTCCCCG	0.323													26	28					0	0	1	0	0	A	71188217	G	A	71188217	2	1	81	1	0	0	0	0	0	0	0	1	9051	1132	40	1		1	LRRC49	15	71188217	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	62914	71188217	31343175	11099	14715											
LRRC49	54839	broad.mit.edu	37	15	71272511	71272511	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:71272511A>C	ENST00000260382.5	+	10	1253	c.993A>C	c.(991-993)caA>caC	p.Q331H	LRRC49_ENST00000544974.2_Missense_Mutation_p.Q321H|LRRC49_ENST00000436542.2_3'UTR|LRRC49_ENST00000560369.1_Missense_Mutation_p.Q336H|LRRC49_ENST00000560158.2_Missense_Mutation_p.Q19H|LRRC49_ENST00000560691.1_Missense_Mutation_p.Q37H|LRRC49_ENST00000443425.2_Missense_Mutation_p.Q287H	NM_001199017.1|NM_017691.3	NP_001185946.1|NP_060161.2	Q8IUZ0	LRC49_HUMAN	leucine rich repeat containing 49	331						cytoplasm|microtubule				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(3)|skin(3)	34						GTCATAAACAATCTTTGCTTA	0.403													20	22					0	0	1	0	0	C	71272511	A	C	71272511	3	2	81	1	0	0	0	0	1	0	0	0	9051	98	4	4	1031	4	LRRC49	15	71272511	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	84294	71272511	31258881	11100	14716											
LRRC49	54839	broad.mit.edu	37	15	71341896	71341896	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:71341896G>A	ENST00000260382.5	+	16	2266	c.2006G>A	c.(2005-2007)cGc>cAc	p.R669H	LRRC49_ENST00000544974.2_Missense_Mutation_p.R659H|LRRC49_ENST00000436542.2_3'UTR|LRRC49_ENST00000560369.1_Missense_Mutation_p.R674H|LRRC49_ENST00000560158.2_Missense_Mutation_p.R357H|LRRC49_ENST00000560691.1_Missense_Mutation_p.R375H|LRRC49_ENST00000443425.2_Missense_Mutation_p.R625H	NM_001199017.1|NM_017691.3	NP_001185946.1|NP_060161.2	Q8IUZ0	LRC49_HUMAN	leucine rich repeat containing 49	669						cytoplasm|microtubule				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(3)|skin(3)	34						ATAGAAATTCGCAATAAAAAT	0.368													42	66					0	0	1	0	0	A	71341896	G	A	71341896	3	1	81	1	0	0	0	0	1	0	0	0	9051	1087	38	1	2068	1	LRRC49	15	71341896	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	69385	71341896	31189496	11101	14717											
THSD4	79875	broad.mit.edu	37	15	71447271	71447271	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:71447271G>T	ENST00000355327.3	+	3	233	c.99G>T	c.(97-99)aaG>aaT	p.K33N	RP11-673C5.2_ENST00000561571.1_RNA|THSD4_ENST00000261862.6_Splice_Site_p.K33N			Q6ZMP0	THSD4_HUMAN	thrombospondin, type I, domain containing 4	33						proteinaceous extracellular matrix	metalloendopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						AACACAGGAAGGTAAGCCATG	0.527													20	31					2.32416e-17	2.99827e-17	1	1	0	T	71447271	G	T	71447271	5	4	81	1	0	0	0	0	0	0	1	0	15938	1014	35	4	105	4	THSD4	15	71447271	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	105375	71447271	31084121	11102	14718											
THSD4	79875	broad.mit.edu	37	15	71952960	71952960	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:71952960C>T	ENST00000355327.3	+	8	1378	c.1244C>T	c.(1243-1245)tCg>tTg	p.S415L	THSD4_ENST00000567838.1_3'UTR|THSD4_ENST00000261862.6_Missense_Mutation_p.S415L|THSD4_ENST00000357769.4_Missense_Mutation_p.S55L			Q6ZMP0	THSD4_HUMAN	thrombospondin, type I, domain containing 4	415						proteinaceous extracellular matrix	metalloendopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						CAGGTTGTGTCGGGCGTGTTT	0.547													64	86					0	0	1	0	0	T	71952960	C	T	71952960	3	4	81	1	0	0	0	0	1	0	0	0	15938	893	31	1	1270	1	THSD4	15	71952960	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	505689	71952960	30578432	11103	14719											
THSD4	79875	broad.mit.edu	37	15	72063538	72063538	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:72063538C>T	ENST00000355327.3	+	17	3039	c.2905C>T	c.(2905-2907)Cct>Tct	p.P969S	THSD4_ENST00000261862.6_Missense_Mutation_p.P969S|THSD4_ENST00000357769.4_Missense_Mutation_p.P609S			Q6ZMP0	THSD4_HUMAN	thrombospondin, type I, domain containing 4	969						proteinaceous extracellular matrix	metalloendopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						GGACTGTGTCCCTGAAGTTGG	0.448													46	51					0	0	1	0	0	T	72063538	C	T	72063538	3	4	81	1	0	0	0	0	1	0	0	0	15938	623	22	2	2967	2	THSD4	15	72063538	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	110578	72063538	30467854	11104	14720											
NR2E3	10002	broad.mit.edu	37	15	72105820	72105820	+	RNA	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:72105820C>T	ENST00000398840.2	+	0	1029							Q9Y5X4	NR2E3_HUMAN	nuclear receptor subfamily 2, group E, member 3						phototransduction|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription from RNA polymerase II promoter|visual perception	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			breast(1)|endometrium(1)|lung(1)	3						CTGCTGGCACCGCCCGAGGCC	0.642													6	10					0	0	1	0	0	T	72105820	C	T	72105820	1	4	81	0	1	0	0	0	0	0	0	0	10674	652	23	1		1	NR2E3	15	72105820	RNA	SNP	C	TCGA-DU-6392-01A-11D-1705-08	42282	72105820	30425572	11105	14721											
MYO9A	4649	broad.mit.edu	37	15	72338703	72338703	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:72338703C>A	ENST00000356056.5	-	2	674	c.202G>T	c.(202-204)Gaa>Taa	p.E68*	MYO9A_ENST00000564571.1_Nonsense_Mutation_p.E68*|MYO9A_ENST00000444904.1_Nonsense_Mutation_p.E68*|MYO9A_ENST00000566885.1_Intron|MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000424560.1_Nonsense_Mutation_p.E68*	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	68	Ras-associating.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						CCACCAAATTCCTTTACCTCT	0.423													30	46					1.75199e-13	2.20964e-13	1	1	0	A	72338703	C	A	72338703	4	1	81	1	0	0	0	0	0	1	0	0	10132	864	30	5	7608	5	MYO9A	15	72338703	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	232883	72338703	30192689	11106	14722											
BBS4	585	broad.mit.edu	37	15	73029112	73029112	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:73029112A>C	ENST00000268057.4	+	15	1299	c.1258A>C	c.(1258-1260)Atg>Ctg	p.M420L	BBS4_ENST00000395205.2_Missense_Mutation_p.M428L|BBS4_ENST00000539603.1_Missense_Mutation_p.M408L|BBS4_ENST00000542334.1_Missense_Mutation_p.M248L	NM_033028.4	NP_149017.2	Q96RK4	BBS4_HUMAN	Bardet-Biedl syndrome 4	420	Required for localization to centrosomes.				adult behavior|brain morphogenesis|cell cycle cytokinesis|centrosome organization|cerebral cortex development|convergent extension involved in gastrulation|dendrite development|fat cell differentiation|heart looping|hippocampus development|intracellular transport|maintenance of protein location in nucleus|melanosome transport|microtubule anchoring at centrosome|neural tube closure|nonmotile primary cilium assembly|photoreceptor cell maintenance|pigment granule aggregation in cell center|positive regulation of flagellum assembly|regulation of cilium beat frequency involved in ciliary motility|regulation of cytokinesis|regulation of lipid metabolic process|retina homeostasis|retinal rod cell development|sensory perception of smell|sensory processing|spermatid development|striatum development	BBSome|centriolar satellite|centriole|cilium membrane|microtubule basal body|motile cilium|nonmotile primary cilium|nucleus|pericentriolar material	alpha-tubulin binding|beta-tubulin binding|dynactin binding|microtubule motor activity			autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(1)	19						GATGGTGGAGATGGCTCAGAA	0.498									Bardet-Biedl syndrome				9	67					0	0	1	0	0	C	73029112	A	C	73029112	3	2	81	1	0	0	0	0	1	0	0	0	1337	333	12	4	1316	4	BBS4	15	73029112	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	690409	73029112	29502280	11107	14723											
ADPGK	83440	broad.mit.edu	37	15	73052808	73052808	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:73052808C>T	ENST00000311669.8	-	4	676	c.583G>A	c.(583-585)Gtt>Att	p.V195I	ADPGK_ENST00000567733.1_5'UTR	NM_031284.4	NP_112574.3	Q9BRR6	ADPGK_HUMAN	ADP-dependent glucokinase	195	ADPK.				glycolysis	extracellular region	ADP-specific glucokinase activity|metal ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|skin(1)	7						TCTGGTGGAACAAAGACATTG	0.473													42	74					0	0	1	0	0	T	73052808	C	T	73052808	3	4	81	1	0	0	0	0	1	0	0	0	329	478	17	2	923	2	ADPGK	15	73052808	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	23696	73052808	29478584	11108	14724											
NEO1	4756	broad.mit.edu	37	15	73541443	73541443	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:73541443C>T	ENST00000339362.5	+	11	2096	c.1649C>T	c.(1648-1650)gCt>gTt	p.A550V	NEO1_ENST00000560262.1_Missense_Mutation_p.A550V|NEO1_ENST00000261908.6_Missense_Mutation_p.A550V|NEO1_ENST00000560352.1_3'UTR|NEO1_ENST00000558964.1_Missense_Mutation_p.A550V			Q92859	NEO1_HUMAN	neogenin 1	550	Fibronectin type-III 2.				axon guidance|cell adhesion|positive regulation of muscle cell differentiation	Golgi apparatus|integral to plasma membrane|nucleus				NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	57						GCATATGCAGCTTCGCCTACC	0.428													39	66					0	0	1	0	0	T	73541443	C	T	73541443	3	4	81	1	0	0	0	0	1	0	0	0	10383	797	28	2	1687	2	NEO1	15	73541443	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	488635	73541443	28989949	11109	14725											
NEO1	4756	broad.mit.edu	37	15	73567057	73567057	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:73567057A>G	ENST00000339362.5	+	22	3632	c.3185A>G	c.(3184-3186)aAt>aGt	p.N1062S	NEO1_ENST00000560262.1_Missense_Mutation_p.N1062S|NEO1_ENST00000261908.6_Missense_Mutation_p.N1062S|NEO1_ENST00000558964.1_Intron			Q92859	NEO1_HUMAN	neogenin 1	1062					axon guidance|cell adhesion|positive regulation of muscle cell differentiation	Golgi apparatus|integral to plasma membrane|nucleus				NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	57						AAAATGCCTAATGATCAAGGT	0.378													13	129					0	0	1	0	0	G	73567057	A	G	73567057	3	3	81	1	0	0	0	0	1	0	0	0	10383	101	4	3	3267	3	NEO1	15	73567057	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	25614	73567057	28964335	11110	14726											
HCN4	10021	broad.mit.edu	37	15	73616290	73616290	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:73616290C>T	ENST00000261917.3	-	8	3137	c.2144G>A	c.(2143-2145)gGc>gAc	p.G715D		NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 4	715					blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		GTTCTTCTTGCCTGGGCCACA	0.562													15	33					0	0	1	0	0	T	73616290	C	T	73616290	5	4	81	1	0	0	0	0	0	0	1	0	7040	753	26	2	1471	2	HCN4	15	73616290	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	49233	73616290	28915102	11111	14727											
HCN4	10021	broad.mit.edu	37	15	73635840	73635840	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:73635840C>T	ENST00000261917.3	-	2	2088	c.1095G>A	c.(1093-1095)tcG>tcA	p.S365S		NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 4	365					blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		TGTAGACCTCCGAGTCGATGC	0.512													8	14					0	0	1	0	0	T	73635840	C	T	73635840	2	4	81	1	0	0	0	0	0	0	0	1	7040	639	23	1		1	HCN4	15	73635840	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	19550	73635840	28895552	11112	14728											
C15orf60	283677	broad.mit.edu	37	15	73848684	73848684	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:73848684G>A	ENST00000331090.6	+	5	616	c.588G>A	c.(586-588)gcG>gcA	p.A196A	C15orf60_ENST00000560581.1_Silent_p.A168A	NM_001042367.1	NP_001035826.1	Q7Z4M0	CO060_HUMAN	chromosome 15 open reading frame 60	196										endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|pancreas(1)|prostate(2)	17						GTGTAACAGCGGGCACAGGCG	0.463													4	43					0	0	1	0	0	A	73848684	G	A	73848684	2	1	81	1	0	0	0	0	0	0	0	1	1814	1103	39	1		1	C15orf60	15	73848684	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	212844	73848684	28682708	11113	14729											
NPTN	27020	broad.mit.edu	37	15	73889488	73889488	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:73889488C>T	ENST00000345330.4	-	2	511	c.314G>A	c.(313-315)cGg>cAg	p.R105Q	NPTN_ENST00000351217.6_Intron|NPTN_ENST00000563691.1_Missense_Mutation_p.R105Q|NPTN_ENST00000542234.1_Intron|NPTN_ENST00000562924.1_Intron|NPTN_ENST00000545878.1_Missense_Mutation_p.R105Q|NPTN_ENST00000564551.1_Intron|NPTN_ENST00000287226.8_Missense_Mutation_p.R105Q	NM_001161363.1|NM_012428.3	NP_001154835.1|NP_036560.1	Q9Y639	NPTN_HUMAN	neuroplastin	105	Ig-like 1.				elevation of cytosolic calcium ion concentration|homophilic cell adhesion|long-term synaptic potentiation|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of long-term neuronal synaptic plasticity|positive regulation of neuron projection development|positive regulation of protein phosphorylation	integral to membrane|plasma membrane|presynaptic membrane	cell adhesion molecule binding|type 1 fibroblast growth factor receptor binding			breast(2)|cervix(1)|endometrium(2)|large_intestine(2)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	13						CAAGGTGAGCCGGGTTATTCT	0.577													11	29					0	0	1	0	0	T	73889488	C	T	73889488	3	4	81	1	0	0	0	0	1	0	0	0	10649	652	23	1	910	1	NPTN	15	73889488	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	40804	73889488	28641904	11114	14730											
STOML1	9399	broad.mit.edu	37	15	74280984	74280984	+	Missense_Mutation	SNP	G	G	A	rs114483410	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:74280984G>A	ENST00000316900.5	-	4	674	c.550C>T	c.(550-552)Cgg>Tgg	p.R184W	STOML1_ENST00000561656.1_Missense_Mutation_p.R97W|STOML1_ENST00000316911.6_Missense_Mutation_p.R134W|STOML1_ENST00000541638.1_Missense_Mutation_p.R142W|STOML1_ENST00000564777.1_Missense_Mutation_p.R134W|STOML1_ENST00000359750.4_Missense_Mutation_p.R184W	NM_001256672.1|NM_001256675.1|NM_001256677.1|NM_004809.4	NP_001243601.1|NP_001243604.1|NP_001243606.1|NP_004800.2	Q9UBI4	STML1_HUMAN	stomatin (EPB72)-like 1	184						integral to membrane	sterol binding			endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	8						TGGATCTCCCGCAGCGGCCTC	0.617													25	31					0	0	1	0	0	A	74280984	G	A	74280984	3	1	81	1	0	0	0	0	1	0	0	0	15369	1086	38	1	662	1	STOML1	15	74280984	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	391496	74280984	28250408	11115	14731											
PML	5371	broad.mit.edu	37	15	74290723	74290723	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:74290723C>T	ENST00000565898.1	+	2	592	c.508C>T	c.(508-510)Cgc>Tgc	p.R170C	PML_ENST00000563500.1_Missense_Mutation_p.R170C|PML_ENST00000569477.1_Missense_Mutation_p.R170C|PML_ENST00000395135.3_Missense_Mutation_p.R170C|PML_ENST00000268058.3_Missense_Mutation_p.R170C|PML_ENST00000436891.3_Missense_Mutation_p.R170C|PML_ENST00000567543.1_Missense_Mutation_p.R170C|PML_ENST00000569965.1_Missense_Mutation_p.R170C|PML_ENST00000435786.2_Missense_Mutation_p.R170C|PML_ENST00000395132.2_Missense_Mutation_p.R170C|PML_ENST00000354026.6_Missense_Mutation_p.R170C|PML_ENST00000268059.6_Missense_Mutation_p.R170C|PML_ENST00000359928.4_Missense_Mutation_p.R170C|PML_ENST00000564428.1_Missense_Mutation_p.R170C			P29590	PML_HUMAN	promyelocytic leukemia	170					cell cycle arrest|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 resulting in induction of apoptosis|endoplasmic reticulum calcium ion homeostasis|induction of apoptosis|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|maintenance of protein location in nucleus|negative regulation of angiogenesis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of mitotic cell cycle|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|negative regulation of telomerase activity|negative regulation of telomere maintenance via telomerase|negative regulation of transcription, DNA-dependent|negative regulation of translation in response to oxidative stress|PML body organization|positive regulation of defense response to virus by host|positive regulation of histone deacetylation|protein complex assembly|protein stabilization|protein targeting|regulation of calcium ion transport into cytosol|regulation of protein phosphorylation|response to hypoxia|response to virus|transcription, DNA-dependent	cytoplasm|cytosol|early endosome membrane|extrinsic to endoplasmic reticulum membrane|insoluble fraction|nuclear matrix|nuclear membrane|nucleolus|nucleus|PML body	cobalt ion binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|SUMO binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	31						AGCAGAGCTGCGCAACCAGTC	0.622			T	"RARA, PAX5"	"APL, ALL"								12	14					0	0	1	0	0	T	74290723	C	T	74290723	3	4	81	1	0	0	0	0	1	0	0	0	12183	768	27	1	514	1	PML	15	74290723	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	9739	74290723	28240669	11116	14732											
PML	5371	broad.mit.edu	37	15	74337240	74337240	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:74337240G>T	ENST00000565898.1	+	8	2480	c.2396G>T	c.(2395-2397)gGc>gTc	p.G799V	PML_ENST00000268058.3_Missense_Mutation_p.G847V			P29590	PML_HUMAN	promyelocytic leukemia	847					cell cycle arrest|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 resulting in induction of apoptosis|endoplasmic reticulum calcium ion homeostasis|induction of apoptosis|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|maintenance of protein location in nucleus|negative regulation of angiogenesis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of mitotic cell cycle|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|negative regulation of telomerase activity|negative regulation of telomere maintenance via telomerase|negative regulation of transcription, DNA-dependent|negative regulation of translation in response to oxidative stress|PML body organization|positive regulation of defense response to virus by host|positive regulation of histone deacetylation|protein complex assembly|protein stabilization|protein targeting|regulation of calcium ion transport into cytosol|regulation of protein phosphorylation|response to hypoxia|response to virus|transcription, DNA-dependent	cytoplasm|cytosol|early endosome membrane|extrinsic to endoplasmic reticulum membrane|insoluble fraction|nuclear matrix|nuclear membrane|nucleolus|nucleus|PML body	cobalt ion binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|SUMO binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	31						CAGGCTCTGGGCACCTACTTT	0.652			T	"RARA, PAX5"	"APL, ALL"								22	50					3.28513e-13	4.13666e-13	1	1	0	T	74337240	G	T	74337240	3	4	81	1	0	0	0	0	1	0	0	0	12183	1203	42	5	3591	5	PML	15	74337240	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	46517	74337240	28194152	11117	14733											
ISLR2	57611	broad.mit.edu	37	15	74425273	74425273	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:74425273G>A	ENST00000361742.3	+	4	947	c.178G>A	c.(178-180)Gcg>Acg	p.A60T	ISLR2_ENST00000435464.1_Missense_Mutation_p.A60T|ISLR2_ENST00000453268.2_Missense_Mutation_p.A60T|ISLR2_ENST00000561975.1_Intron|ISLR2_ENST00000565159.1_Missense_Mutation_p.A60T|ISLR2_ENST00000565540.1_Missense_Mutation_p.A60T|ISLR2_ENST00000419208.1_Missense_Mutation_p.A60T|ISLR2_ENST00000445793.1_Missense_Mutation_p.A60T	NM_001130136.1|NM_020851.2	NP_001123608.1|NP_065902.1	Q6UXK2	ISLR2_HUMAN	immunoglobulin superfamily containing leucine-rich repeat 2	60					positive regulation of axon extension	cell surface|integral to membrane|plasma membrane				breast(3)|endometrium(6)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36						TAGTCTGTCCGCGAACAAGAT	0.632													7	64					0	0	1	0	0	A	74425273	G	A	74425273	3	1	81	1	0	0	0	0	1	0	0	0	7903	1087	38	1	180	1	ISLR2	15	74425273	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	88033	74425273	28106119	11118	14734											
ISLR2	57611	broad.mit.edu	37	15	74425567	74425567	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:74425567C>T	ENST00000361742.3	+	4	1241	c.472C>T	c.(472-474)Cgg>Tgg	p.R158W	ISLR2_ENST00000435464.1_Missense_Mutation_p.R158W|ISLR2_ENST00000453268.2_Missense_Mutation_p.R158W|ISLR2_ENST00000561975.1_Intron|ISLR2_ENST00000565159.1_Missense_Mutation_p.R158W|ISLR2_ENST00000565540.1_Missense_Mutation_p.R158W|ISLR2_ENST00000419208.1_Missense_Mutation_p.R158W|ISLR2_ENST00000445793.1_Missense_Mutation_p.R158W	NM_001130136.1|NM_020851.2	NP_001123608.1|NP_065902.1	Q6UXK2	ISLR2_HUMAN	immunoglobulin superfamily containing leucine-rich repeat 2	158					positive regulation of axon extension	cell surface|integral to membrane|plasma membrane				breast(3)|endometrium(6)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36						CAACAACAACCGGCTGCGTAC	0.632													30	40					0	0	1	0	0	T	74425567	C	T	74425567	3	4	81	1	0	0	0	0	1	0	0	0	7903	643	23	1	474	1	ISLR2	15	74425567	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	294	74425567	28105825	11119	14735											
ISLR2	57611	broad.mit.edu	37	15	74425584	74425584	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:74425584G>A	ENST00000361742.3	+	4	1258	c.489G>A	c.(487-489)gcG>gcA	p.A163A	ISLR2_ENST00000435464.1_Silent_p.A163A|ISLR2_ENST00000453268.2_Silent_p.A163A|ISLR2_ENST00000561975.1_Intron|ISLR2_ENST00000565159.1_Silent_p.A163A|ISLR2_ENST00000565540.1_Silent_p.A163A|ISLR2_ENST00000419208.1_Silent_p.A163A|ISLR2_ENST00000445793.1_Silent_p.A163A	NM_001130136.1|NM_020851.2	NP_001123608.1|NP_065902.1	Q6UXK2	ISLR2_HUMAN	immunoglobulin superfamily containing leucine-rich repeat 2	163					positive regulation of axon extension	cell surface|integral to membrane|plasma membrane				breast(3)|endometrium(6)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36						GTACGCTGGCGCCTGGCACCT	0.657													8	76					0	0	1	0	0	A	74425584	G	A	74425584	2	1	81	1	0	0	0	0	0	0	0	1	7903	1074	38	1		1	ISLR2	15	74425584	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	17	74425584	28105808	11120	14736											
ISLR2	57611	broad.mit.edu	37	15	74425650	74425650	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:74425650C>T	ENST00000361742.3	+	4	1324	c.555C>T	c.(553-555)tgC>tgT	p.C185C	ISLR2_ENST00000435464.1_Silent_p.C185C|ISLR2_ENST00000453268.2_Silent_p.C185C|ISLR2_ENST00000561975.1_Intron|ISLR2_ENST00000565159.1_Silent_p.C185C|ISLR2_ENST00000565540.1_Silent_p.C185C|ISLR2_ENST00000419208.1_Silent_p.C185C|ISLR2_ENST00000445793.1_Silent_p.C185C	NM_001130136.1|NM_020851.2	NP_001123608.1|NP_065902.1	Q6UXK2	ISLR2_HUMAN	immunoglobulin superfamily containing leucine-rich repeat 2	185	LRRCT.				positive regulation of axon extension	cell surface|integral to membrane|plasma membrane				breast(3)|endometrium(6)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36						CCTTCCACTGCGGCTGCGGCC	0.657													46	63					0	0	1	0	0	T	74425650	C	T	74425650	2	4	81	1	0	0	0	0	0	0	0	1	7903	776	27	1		1	ISLR2	15	74425650	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	66	74425650	28105742	11121	14737											
ISLR2	57611	broad.mit.edu	37	15	74426914	74426914	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:74426914C>T	ENST00000361742.3	+	4	2588	c.1819C>T	c.(1819-1821)Ccc>Tcc	p.P607S	ISLR2_ENST00000435464.1_Missense_Mutation_p.P607S|ISLR2_ENST00000453268.2_Missense_Mutation_p.P607S|ISLR2_ENST00000561975.1_Intron|ISLR2_ENST00000565159.1_Missense_Mutation_p.P607S|ISLR2_ENST00000565540.1_Missense_Mutation_p.P607S|ISLR2_ENST00000419208.1_Missense_Mutation_p.P607S|ISLR2_ENST00000445793.1_Missense_Mutation_p.P607S	NM_001130136.1|NM_020851.2	NP_001123608.1|NP_065902.1	Q6UXK2	ISLR2_HUMAN	immunoglobulin superfamily containing leucine-rich repeat 2	607					positive regulation of axon extension	cell surface|integral to membrane|plasma membrane				breast(3)|endometrium(6)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36						GGCCACAGTGCCCCTTCTGGG	0.627											OREG0023277	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	27					0	0	1	0	0	T	74426914	C	T	74426914	3	4	81	1	0	0	0	0	1	0	0	0	7903	739	26	2	1821	2	ISLR2	15	74426914	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1264	74426914	28104478	11122	14738											
CCDC33	80125	broad.mit.edu	37	15	74565141	74565141	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:74565141C>T	ENST00000321288.5	+	9	1277	c.1277C>T	c.(1276-1278)tCt>tTt	p.S426F	CCDC33_ENST00000398814.3_Missense_Mutation_p.S223F			Q8N5R6	CCD33_HUMAN	coiled-coil domain containing 33	426							protein binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						GACCTGGCCTCTGTGGGGCTG	0.652													14	24					0	0	1	0	0	T	74565141	C	T	74565141	3	4	81	1	0	0	0	0	1	0	0	0	2825	913	32	2	694	2	CCDC33	15	74565141	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	138227	74565141	27966251	11123	14739											
CCDC33	80125	broad.mit.edu	37	15	74565152	74565152	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:74565152C>T	ENST00000321288.5	+	9	1288	c.1288C>T	c.(1288-1290)Ccc>Tcc	p.P430S	CCDC33_ENST00000398814.3_Missense_Mutation_p.P227S			Q8N5R6	CCD33_HUMAN	coiled-coil domain containing 33	430							protein binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						TGTGGGGCTGCCCATCACCCC	0.637													16	27					0	0	1	0	0	T	74565152	C	T	74565152	3	4	81	1	0	0	0	0	1	0	0	0	2825	739	26	2	705	2	CCDC33	15	74565152	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	11	74565152	27966240	11124	14740											
SEMA7A	8482	broad.mit.edu	37	15	74708206	74708206	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:74708206G>T	ENST00000261918.4	-	8	1470	c.922C>A	c.(922-924)Ctg>Atg	p.L308M	SEMA7A_ENST00000542748.1_Missense_Mutation_p.L143M|SEMA7A_ENST00000543145.2_Missense_Mutation_p.L294M	NM_003612.3	NP_003603.1	O75326	SEM7A_HUMAN	semaphorin 7A, GPI membrane anchor (John Milton Hagen blood group)	308	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						TCAGGGAGCAGGAAGACGTCT	0.567													14	25					6.72482e-11	8.27642e-11	1	1	0	T	74708206	G	T	74708206	3	4	81	1	0	0	0	0	1	0	0	0	14097	991	35	4	1106	4	SEMA7A	15	74708206	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	143054	74708206	27823186	11125	14741											
UBL7	84993	broad.mit.edu	37	15	74748994	74748994	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:74748994C>T	ENST00000567435.1	-	3	666	c.203G>A	c.(202-204)cGg>cAg	p.R68Q	UBL7_ENST00000564488.1_Missense_Mutation_p.R68Q|UBL7_ENST00000395081.2_Missense_Mutation_p.R68Q|UBL7_ENST00000565335.1_Missense_Mutation_p.R68Q|UBL7_ENST00000361351.4_Missense_Mutation_p.R68Q			Q96S82	UBL7_HUMAN	ubiquitin-like 7 (bone marrow stromal cell-derived)	68	Ubiquitin-like.						protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9						TTTTAGCTTCCGACCACAGTA	0.413													35	67					0	0	1	0	0	T	74748994	C	T	74748994	3	4	81	1	0	0	0	0	1	0	0	0	16951	652	23	1	975	1	UBL7	15	74748994	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	40788	74748994	27782398	11126	14742											
ARID3B	10620	broad.mit.edu	37	15	74884148	74884148	+	Silent	SNP	C	C	T	rs149040930	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:74884148C>T	ENST00000346246.5	+	7	1644	c.1413C>T	c.(1411-1413)aaC>aaT	p.N471N		NM_006465.2	NP_006456.1	Q8IVW6	ARI3B_HUMAN	AT rich interactive domain 3B (BRIGHT-like)	471	REKLES.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(2)	14						TCAGGATCAACGGCAGGGGTG	0.642													10	31					0	0	1	0	0	T	74884148	C	T	74884148	2	4	81	1	0	0	0	0	0	0	0	1	914	535	19	1		1	ARID3B	15	74884148	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	135154	74884148	27647244	11127	14743											
CLK3	1198	broad.mit.edu	37	15	74911560	74911560	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:74911560G>A	ENST00000395066.3	+	2	928	c.467G>A	c.(466-468)cGc>cAc	p.R156H	CLK3_ENST00000348245.3_Missense_Mutation_p.R8H|CLK3_ENST00000352989.5_Missense_Mutation_p.R8H|CLK3_ENST00000345005.4_Missense_Mutation_p.R8H	NM_001130028.1	NP_001123500.1	P49761	CLK3_HUMAN	CDC-like kinase 3	156						acrosomal vesicle|nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)|stomach(2)|urinary_tract(1)	15						AAGCGATACCGCTCCCCTGAA	0.607													51	78					0	0	1	0	0	A	74911560	G	A	74911560	3	1	81	1	0	0	0	0	1	0	0	0	3561	1087	38	1	473	1	CLK3	15	74911560	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	27412	74911560	27619832	11128	14744											
CLK3	1198	broad.mit.edu	37	15	74912538	74912538	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:74912538G>A	ENST00000395066.3	+	3	1246	c.785G>A	c.(784-786)cGc>cAc	p.R262H	CLK3_ENST00000348245.3_Missense_Mutation_p.R114H|CLK3_ENST00000352989.5_Missense_Mutation_p.R114H|CLK3_ENST00000345005.4_Missense_Mutation_p.R114H	NM_001130028.1	NP_001123500.1	P49761	CLK3_HUMAN	CDC-like kinase 3	262	Arg-rich.					acrosomal vesicle|nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)|stomach(2)|urinary_tract(1)	15						CACAAACGCCGCACCAGGTCT	0.617													37	62					0	0	1	0	0	A	74912538	G	A	74912538	3	1	81	1	0	0	0	0	1	0	0	0	3561	1087	38	1	795	1	CLK3	15	74912538	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	978	74912538	27618854	11129	14745											
CLK3	1198	broad.mit.edu	37	15	74914483	74914483	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:74914483G>A	ENST00000395066.3	+	4	1297	c.836G>A	c.(835-837)cGc>cAc	p.R279H	CLK3_ENST00000348245.3_Intron|CLK3_ENST00000352989.5_Missense_Mutation_p.R131H|CLK3_ENST00000345005.4_Missense_Mutation_p.R131H	NM_001130028.1	NP_001123500.1	P49761	CLK3_HUMAN	CDC-like kinase 3	279						acrosomal vesicle|nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)|stomach(2)|urinary_tract(1)	15						AGCAGTAAGCGCAGCAGCCGG	0.562													12	28					0	0	1	0	0	A	74914483	G	A	74914483	3	1	81	1	0	0	0	0	1	0	0	0	3561	1087	38	1	850	1	CLK3	15	74914483	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1945	74914483	27616909	11130	14746											
CYP1A1	1543	broad.mit.edu	37	15	75014932	75014932	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:75014932G>A	ENST00000379727.3	-	2	705	c.507C>T	c.(505-507)gtC>gtT	p.V169V	CYP1A1_ENST00000395049.4_Silent_p.V169V|CYP1A1_ENST00000564596.1_Intron|CYP1A1_ENST00000395048.2_Silent_p.V169V|CYP1A1_ENST00000567032.1_Silent_p.V169V			P04798	CP1A1_HUMAN	cytochrome P450, family 1, subfamily A, polypeptide 1	169					cellular lipid metabolic process|drug metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding|vitamin D 24-hydroxylase activity			autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(7)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34					Arsenic trioxide(DB01169)|Benzphetamine(DB00865)|Bleomycin(DB00290)|Chlorzoxazone(DB00356)|Dacarbazine(DB00851)|Dactinomycin(DB00970)|Esomeprazole(DB00736)|Estrone(DB00655)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Ginseng(DB01404)|Granisetron(DB00889)|Ketoconazole(DB01026)|Menadione(DB00170)|Picrotoxin(DB00466)|Primaquine(DB01087)|Quinidine(DB00908)|Quinine(DB00468)|Thiabendazole(DB00730)	TGCTTATCAGGACCTCAGCCT	0.547									Endometrial Cancer, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia				37	70					0	0	1	0	0	A	75014932	G	A	75014932	2	1	81	1	0	0	0	0	0	0	0	1	4172	1161	41	2		2	CYP1A1	15	75014932	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	100449	75014932	27516460	11131	14747											
CSK	1445	broad.mit.edu	37	15	75093199	75093199	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:75093199G>A	ENST00000220003.9	+	8	1387	c.658G>A	c.(658-660)Gcc>Acc	p.A220T	CSK_ENST00000439220.2_Missense_Mutation_p.A220T|CSK_ENST00000309470.9_Missense_Mutation_p.A220T|CSK_ENST00000567571.1_Missense_Mutation_p.A220T	NM_004383.2	NP_004374.1	P41240	CSK_HUMAN	c-src tyrosine kinase	220	Protein kinase.				blood coagulation|epidermal growth factor receptor signaling pathway|T cell costimulation|T cell receptor signaling pathway	centrosome|cytosol|Golgi apparatus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein C-terminus binding			central_nervous_system(1)|lung(2)	3						GAACAAAGTCGCCGTCAAGTG	0.632											OREG0023291	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	12					0	0	1	0	0	A	75093199	G	A	75093199	3	1	81	1	0	0	0	0	1	0	0	0	3968	1087	38	1	684	1	CSK	15	75093199	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	78267	75093199	27438193	11132	14748											
LMAN1L	79748	broad.mit.edu	37	15	75108826	75108826	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:75108826C>T	ENST00000309664.5	+	3	528	c.389C>T	c.(388-390)tCg>tTg	p.S130L	LMAN1L_ENST00000379709.3_Missense_Mutation_p.S130L	NM_021819.2	NP_068591.2	Q9HAT1	LMA1L_HUMAN	lectin, mannose-binding, 1 like	130	L-type lectin-like.					ER-Golgi intermediate compartment membrane|integral to membrane	sugar binding	p.S130L(1)		NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GGGCTGGCTTCGTGGGACGGC	0.667													28	59					0	0	1	0	0	T	75108826	C	T	75108826	3	4	81	1	0	0	0	0	1	0	0	0	8878	893	31	1	399	1	LMAN1L	15	75108826	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	15627	75108826	27422566	11133	14749											
CPLX3	594855	broad.mit.edu	37	15	75122677	75122677	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:75122677G>A	ENST00000395018.4	+	3	616	c.459G>A	c.(457-459)gaG>gaA	p.E153E	RP11-414J4.2_ENST00000564823.1_RNA	NM_001030005.2	NP_001025176.1	Q8WVH0	CPLX3_HUMAN	complexin 3	153						cell junction|synapse	syntaxin binding	p.E153D(1)		large_intestine(2)|lung(2)	4						AATCAGCTGAGAAGTGTCACG	0.592													9	10					0	0	1	0	0	A	75122677	G	A	75122677	2	1	81	1	0	0	0	0	0	0	0	1	3829	933	33	2		2	CPLX3	15	75122677	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	13851	75122677	27408715	11134	14750											
SCAMP2	10066	broad.mit.edu	37	15	75140965	75140965	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:75140965A>G	ENST00000268099.9	-	7	819	c.710T>C	c.(709-711)gTt>gCt	p.V237A		NM_005697.3	NP_005688.2	O15127	SCAM2_HUMAN	secretory carrier membrane protein 2	237					post-Golgi vesicle-mediated transport|protein transport	integral to membrane|nucleus|recycling endosome membrane|trans-Golgi network membrane	protein binding			kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	9						AGGGATGCCAACCAACTGGAT	0.483													3	30					0	0	1	0	0	G	75140965	A	G	75140965	3	3	81	1	0	0	0	0	1	0	0	0	13924	43	2	3	291	3	SCAMP2	15	75140965	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	18288	75140965	27390427	11135	14751											
MPI	4351	broad.mit.edu	37	15	75188494	75188494	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:75188494G>A	ENST00000352410.4	+	6	739	c.672G>A	c.(670-672)gcG>gcA	p.A224A	MPI_ENST00000563786.1_Splice_Site_p.A204A|MPI_ENST00000564003.1_Splice_Site_p.T113T|MPI_ENST00000535694.1_Splice_Site_p.A174A|MPI_ENST00000323744.6_Splice_Site_p.T163T|MPI_ENST00000562606.1_Splice_Site_p.A204A|MPI_ENST00000563422.1_Splice_Site_p.A224A|MPI_ENST00000566377.1_Splice_Site_p.A224A			P34949	MPI_HUMAN	mannose phosphate isomerase	224					dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	cytosol	mannose-6-phosphate isomerase activity|zinc ion binding	p.A224A(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|upper_aerodigestive_tract(1)	9						GACCCTCAGCGGCTGCCGGAA	0.557													28	32					0	0	1	0	0	A	75188494	G	A	75188494	5	1	81	1	0	0	0	0	0	0	1	0	9778	1130	39	1	694	1	MPI	15	75188494	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	47529	75188494	27342898	11136	14752											
MPI	4351	broad.mit.edu	37	15	75190063	75190063	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:75190063C>T	ENST00000352410.4	+	8	1331	c.1264C>T	c.(1264-1266)Ctg>Ttg	p.L422L	MPI_ENST00000563786.1_Silent_p.L402L|MPI_ENST00000535694.1_Silent_p.L372L|MPI_ENST00000323744.6_Silent_p.L361L|MPI_ENST00000566377.1_3'UTR			P34949	MPI_HUMAN	mannose phosphate isomerase	422					dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	cytosol	mannose-6-phosphate isomerase activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|upper_aerodigestive_tract(1)	9						TGCCTGCTGTCTGCTGTAAAG	0.592													6	27					0	0	1	0	0	T	75190063	C	T	75190063	2	4	81	1	0	0	0	0	0	0	0	1	9778	912	32	2		2	MPI	15	75190063	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1569	75190063	27341329	11137	14753											
SCAMP5	192683	broad.mit.edu	37	15	75310806	75310806	+	Missense_Mutation	SNP	C	C	T	rs138727668	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:75310806C>T	ENST00000361900.6	+	7	650	c.443C>T	c.(442-444)gCg>gTg	p.A148V	SCAMP5_ENST00000425597.3_Missense_Mutation_p.A148V|SCAMP5_ENST00000562212.1_Missense_Mutation_p.A156V|SCAMP5_ENST00000568081.1_Missense_Mutation_p.A81V|SCAMP5_ENST00000545456.1_Missense_Mutation_p.A77V	NM_001178111.1	NP_001171582.1	Q8TAC9	SCAM5_HUMAN	secretory carrier membrane protein 5	148					exocytosis|negative regulation of endocytosis|positive regulation of calcium ion-dependent exocytosis|positive regulation of cytokine secretion|protein transport|response to endoplasmic reticulum stress	cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane|trans-Golgi network membrane	protein binding			large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2)	5						ATTGGCTCGGCGGTGGTGATG	0.577													7	105					0	0	1	0	0	T	75310806	C	T	75310806	3	4	81	1	0	0	0	0	1	0	0	0	13927	768	27	1	461	1	SCAMP5	15	75310806	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	120743	75310806	27220586	11138	14754											
C15orf39	56905	broad.mit.edu	37	15	75498424	75498424	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:75498424C>A	ENST00000360639.2	+	2	355	c.35C>A	c.(34-36)cCt>cAt	p.P12H	C15orf39_ENST00000394987.4_Missense_Mutation_p.P12H|C15orf39_ENST00000567617.1_Missense_Mutation_p.P12H			Q6ZRI6	CO039_HUMAN	chromosome 15 open reading frame 39	12										autonomic_ganglia(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16						ACCCTGGGGCCTGTGATGTAT	0.602													3	11					0.115264	0.117126	1	1	0	A	75498424	C	A	75498424	3	1	81	1	0	0	0	0	1	0	0	0	1799	681	24	4	37	4	C15orf39	15	75498424	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	187618	75498424	27032968	11139	14755											
C15orf39	56905	broad.mit.edu	37	15	75498566	75498566	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:75498566G>A	ENST00000360639.2	+	2	497	c.177G>A	c.(175-177)gaG>gaA	p.E59E	C15orf39_ENST00000394987.4_Silent_p.E59E|C15orf39_ENST00000567617.1_Silent_p.E59E			Q6ZRI6	CO039_HUMAN	chromosome 15 open reading frame 39	59										autonomic_ganglia(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16						CTAAGGCCGAGTCTGAGCAGT	0.602													9	20					0	0	1	0	0	A	75498566	G	A	75498566	2	1	81	1	0	0	0	0	0	0	0	1	1799	1020	36	2		2	C15orf39	15	75498566	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	142	75498566	27032826	11140	14756											
C15orf39	56905	broad.mit.edu	37	15	75499519	75499519	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:75499519G>T	ENST00000360639.2	+	2	1450	c.1130G>T	c.(1129-1131)aGt>aTt	p.S377I	C15orf39_ENST00000394987.4_Missense_Mutation_p.S377I|C15orf39_ENST00000567617.1_Missense_Mutation_p.S377I			Q6ZRI6	CO039_HUMAN	chromosome 15 open reading frame 39	377										autonomic_ganglia(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16						CAGACACTGAGTTTTCCTTAT	0.622													8	142					0.000442599	0.000477972	1	1	0	T	75499519	G	T	75499519	3	4	81	1	0	0	0	0	1	0	0	0	1799	1029	36	4	1132	4	C15orf39	15	75499519	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	953	75499519	27031873	11141	14757											
MAN2C1	4123	broad.mit.edu	37	15	75652465	75652465	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:75652465G>T	ENST00000565683.1	-	14	1683	c.1672C>A	c.(1672-1674)Cta>Ata	p.L558I	MAN2C1_ENST00000563622.1_Missense_Mutation_p.L459I|MAN2C1_ENST00000569482.1_Missense_Mutation_p.L558I|MAN2C1_ENST00000267978.5_Missense_Mutation_p.L558I	NM_001256494.1	NP_001243423.1	Q9NTJ4	MA2C1_HUMAN	mannosidase, alpha, class 2C, member 1	558					mannose metabolic process		alpha-mannosidase activity|carbohydrate binding|protein binding|zinc ion binding			central_nervous_system(4)|endometrium(4)|kidney(6)|large_intestine(6)|lung(20)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	44						GCTGGGTATAGGAACTGGGCA	0.622													12	151					4.3838e-07	5.09097e-07	1	1	0	T	75652465	G	T	75652465	3	4	81	1	0	0	0	0	1	0	0	0	9268	991	35	4	1502	4	MAN2C1	15	75652465	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	152946	75652465	26878927	11142	14758											
PTPN9	5780	broad.mit.edu	37	15	75761231	75761231	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:75761231C>A	ENST00000306726.2	-	13	2173	c.1661G>T	c.(1660-1662)aGg>aTg	p.R554M		NM_002833.2	NP_002824.1	P43378	PTN9_HUMAN	protein tyrosine phosphatase, non-receptor type 9	554	Tyrosine-protein phosphatase.					cytoplasmic part	non-membrane spanning protein tyrosine phosphatase activity|protein binding			central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GCTGAAGGCCCTCTGGGTCCT	0.552													7	42					8.12818e-05	8.94031e-05	1	1	0	A	75761231	C	A	75761231	3	1	81	1	0	0	0	0	1	0	0	0	12846	681	24	4	124	4	PTPN9	15	75761231	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	108766	75761231	26770161	11143	14759											
PTPN9	5780	broad.mit.edu	37	15	75798101	75798101	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:75798101C>T	ENST00000306726.2	-	7	1395	c.883G>A	c.(883-885)Gtt>Att	p.V295I	PTPN9_ENST00000564970.1_5'UTR	NM_002833.2	NP_002824.1	P43378	PTN9_HUMAN	protein tyrosine phosphatase, non-receptor type 9	295						cytoplasmic part	non-membrane spanning protein tyrosine phosphatase activity|protein binding			central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CTGGCATTAACATAGTCCACC	0.468													22	52					0	0	1	0	0	T	75798101	C	T	75798101	3	4	81	1	0	0	0	0	1	0	0	0	12846	478	17	2	926	2	PTPN9	15	75798101	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	36870	75798101	26733291	11144	14760											
PTPN9	5780	broad.mit.edu	37	15	75809691	75809691	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:75809691C>A	ENST00000306726.2	-	5	949	c.437G>T	c.(436-438)aGg>aTg	p.R146M		NM_002833.2	NP_002824.1	P43378	PTN9_HUMAN	protein tyrosine phosphatase, non-receptor type 9	146	CRAL-TRIO.					cytoplasmic part	non-membrane spanning protein tyrosine phosphatase activity|protein binding			central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CAGTCCATTCCTCTGAGTTTC	0.398													4	44					0.00909568	0.00944708	1	1	0	A	75809691	C	A	75809691	3	1	81	1	0	0	0	0	1	0	0	0	12846	681	24	4	1380	4	PTPN9	15	75809691	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	11590	75809691	26721701	11145	14761											
PTPN9	5780	broad.mit.edu	37	15	75815540	75815540	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:75815540C>A	ENST00000306726.2	-	4	856	c.344G>T	c.(343-345)aGg>aTg	p.R115M		NM_002833.2	NP_002824.1	P43378	PTN9_HUMAN	protein tyrosine phosphatase, non-receptor type 9	115	CRAL-TRIO.					cytoplasmic part	non-membrane spanning protein tyrosine phosphatase activity|protein binding			central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						ATGATGCAACCTGGCAGTAAA	0.398													21	26					3.5997e-14	4.56289e-14	1	1	0	A	75815540	C	A	75815540	3	1	81	1	0	0	0	0	1	0	0	0	12846	681	24	4	1477	4	PTPN9	15	75815540	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	5849	75815540	26715852	11146	14762											
SNUPN	10073	broad.mit.edu	37	15	75890978	75890978	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:75890978G>A	ENST00000371091.5	-	10	1382	c.930C>T	c.(928-930)ccC>ccT	p.P310P	SNUPN_ENST00000308588.5_Silent_p.P268P|CTD-2323K18.1_ENST00000568707.1_RNA|SNUPN_ENST00000567134.1_Silent_p.P268P|SNUPN_ENST00000564675.1_Silent_p.P268P|SNUPN_ENST00000564644.1_Silent_p.P268P			O95149	SPN1_HUMAN	snurportin 1	268	Necessary for binding to the m3G-cap structure.				ncRNA metabolic process|protein import into nucleus|spliceosomal snRNP assembly	cytosol|nuclear pore	protein transporter activity|RNA cap binding			endometrium(2)|large_intestine(3)|lung(2)|pancreas(1)	8						GAGTGCTTCCGGGGCTGTAGT	0.552													76	132					0	0	1	0	0	A	75890978	G	A	75890978	2	1	81	1	0	0	0	0	0	0	0	1	14931	1103	39	1		1	SNUPN	15	75890978	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	75438	75890978	26640414	11147	14763											
SNUPN	10073	broad.mit.edu	37	15	75899557	75899557	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:75899557C>A	ENST00000371091.5	-	7	1178	c.726G>T	c.(724-726)caG>caT	p.Q242H	SNUPN_ENST00000308588.5_Splice_Site_p.Q200H|SNUPN_ENST00000567134.1_Splice_Site_p.Q200H|SNUPN_ENST00000564675.1_Splice_Site_p.Q200H|SNUPN_ENST00000564644.1_Splice_Site_p.Q200H			O95149	SPN1_HUMAN	snurportin 1	200	Necessary for binding to the m3G-cap structure.				ncRNA metabolic process|protein import into nucleus|spliceosomal snRNP assembly	cytosol|nuclear pore	protein transporter activity|RNA cap binding			endometrium(2)|large_intestine(3)|lung(2)|pancreas(1)	8						CCATCCCTACCTGGCAATCAT	0.502													4	57					0.000602214	0.000646338	1	1	0	A	75899557	C	A	75899557	5	1	81	1	0	0	0	0	0	0	1	0	14931	695	24	4	498	4	SNUPN	15	75899557	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	8579	75899557	26631835	11148	14764											
SNX33	257364	broad.mit.edu	37	15	75942139	75942139	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:75942139C>A	ENST00000308527.5	+	1	1893	c.696C>A	c.(694-696)tgC>tgA	p.C232*		NM_153271.1	NP_695003.1	Q8WV41	SNX33_HUMAN	sorting nexin 33	232	PX.				cell communication		phosphatidylinositol binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|soft_tissue(1)|urinary_tract(2)	19						CATTTGCCTGCTCTGTGGAGG	0.562													5	99					0.00116845	0.00124301	1	1	0	A	75942139	C	A	75942139	4	1	81	1	0	0	0	0	0	1	0	0	14957	805	28	4	698	4	SNX33	15	75942139	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	42582	75942139	26589253	11149	14765											
SNX33	257364	broad.mit.edu	37	15	75942222	75942222	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:75942222C>T	ENST00000308527.5	+	1	1976	c.779C>T	c.(778-780)gCc>gTc	p.A260V		NM_153271.1	NP_695003.1	Q8WV41	SNX33_HUMAN	sorting nexin 33	260	PX.				cell communication		phosphatidylinositol binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|soft_tissue(1)|urinary_tract(2)	19						ACCCATGCTGCCTCACCCGTC	0.547													12	126					0	0	1	0	0	T	75942222	C	T	75942222	3	4	81	1	0	0	0	0	1	0	0	0	14957	739	26	2	781	2	SNX33	15	75942222	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	83	75942222	26589170	11150	14766											
SNX33	257364	broad.mit.edu	37	15	75949440	75949440	+	Missense_Mutation	SNP	C	C	T	rs138286330		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:75949440C>T	ENST00000308527.5	+	2	2806	c.1609C>T	c.(1609-1611)Cgc>Tgc	p.R537C		NM_153271.1	NP_695003.1	Q8WV41	SNX33_HUMAN	sorting nexin 33	537	BAR.				cell communication		phosphatidylinositol binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|soft_tissue(1)|urinary_tract(2)	19						CTTCCACCAGCGCCGTGAGCT	0.632													26	28					0	0	1	0	0	T	75949440	C	T	75949440	3	4	81	1	0	0	0	0	1	0	0	0	14957	768	27	1	1615	1	SNX33	15	75949440	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	7218	75949440	26581952	11151	14767											
CSPG4	1464	broad.mit.edu	37	15	75975062	75975062	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:75975062G>A	ENST00000308508.5	-	7	4761	c.4669C>T	c.(4669-4671)Cgc>Tgc	p.R1557C		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	1557	Gly/Ser-rich (glycosaminoglycan attachment domain).			R -> P (in Ref. 1; CAA65529).	angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						AGGCGGAAGCGGAAGCCTCCA	0.667													8	28					0	0	1	0	0	A	75975062	G	A	75975062	3	1	81	1	0	0	0	0	1	0	0	0	3985	1116	39	1	2315	1	CSPG4	15	75975062	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	25622	75975062	26556330	11152	14768											
CSPG4	1464	broad.mit.edu	37	15	75982697	75982697	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:75982697C>T	ENST00000308508.5	-	3	801	c.709G>A	c.(709-711)Gca>Aca	p.A237T		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	237	Globular or compact configuration stabilized by disulfide bonds.|Laminin G-like 2.|Neurite growth inhibition (By similarity).				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						GCCAAGGGTGCCTGCCGGCTC	0.642													10	27					0	0	1	0	0	T	75982697	C	T	75982697	3	4	81	1	0	0	0	0	1	0	0	0	3985	739	26	2	6291	2	CSPG4	15	75982697	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	7635	75982697	26548695	11153	14769											
UBE2Q2	92912	broad.mit.edu	37	15	76165893	76165893	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:76165893G>T	ENST00000267938.4	+	5	954	c.572G>T	c.(571-573)aGg>aTg	p.R191M	UBE2Q2_ENST00000338677.4_Missense_Mutation_p.R191M|UBE2Q2_ENST00000569423.1_Missense_Mutation_p.R156M|UBE2Q2_ENST00000561851.1_Missense_Mutation_p.R175M	NM_173469.2	NP_775740.1	Q8WVN8	UB2Q2_HUMAN	ubiquitin-conjugating enzyme E2Q family member 2	191					protein K48-linked ubiquitination	cytoplasm	ATP binding|ubiquitin-protein ligase activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	12						AAGACTCAAAGGCAAGACCAT	0.343													22	36					7.87624e-14	9.96214e-14	1	1	0	T	76165893	G	T	76165893	3	4	81	1	0	0	0	0	1	0	0	0	16931	1000	35	4	726	4	UBE2Q2	15	76165893	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	183196	76165893	26365499	11154	14770											
FBXO22	26263	broad.mit.edu	37	15	76222395	76222395	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:76222395G>A	ENST00000453211.2	+	6	885	c.799G>A	c.(799-801)Gtc>Atc	p.V267I	FBXO22_ENST00000540507.1_Intron|FBXO22_ENST00000308275.3_Intron	NM_012170.3	NP_036302.1	Q8NEZ5	FBX22_HUMAN	F-box protein 22	0					ubiquitin-dependent protein catabolic process		ubiquitin-protein ligase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						TGAAAAGTATGTCTTGTGTGC	0.383													5	78					0	0	1	0	0	A	76222395	G	A	76222395	3	1	81	1	0	0	0	0	1	0	0	0	5767	1377	48	2	821	2	FBXO22	15	76222395	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	56502	76222395	26308997	11155	14771											
C15orf27	123591	broad.mit.edu	37	15	76430170	76430170	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:76430170C>T	ENST00000388942.3	+	3	437	c.161C>T	c.(160-162)gCt>gTt	p.A54V		NM_152335.2	NP_689548.2	Q2M3C6	CO027_HUMAN	chromosome 15 open reading frame 27	54						integral to membrane				endometrium(1)|large_intestine(1)|lung(10)|pancreas(1)	13						CCCCTGGCTGCTGTCGATCTC	0.522													7	79					0	0	1	0	0	T	76430170	C	T	76430170	3	4	81	1	0	0	0	0	1	0	0	0	1794	797	28	2	167	2	C15orf27	15	76430170	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	207775	76430170	26101222	11156	14772											
C15orf27	123591	broad.mit.edu	37	15	76462158	76462158	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:76462158C>T	ENST00000388942.3	+	6	734	c.458C>T	c.(457-459)aCt>aTt	p.T153I		NM_152335.2	NP_689548.2	Q2M3C6	CO027_HUMAN	chromosome 15 open reading frame 27	153						integral to membrane				endometrium(1)|large_intestine(1)|lung(10)|pancreas(1)	13						TTTCCTCAGACTGTTCTACGG	0.493													12	253					0	0	1	0	0	T	76462158	C	T	76462158	5	4	81	1	0	0	0	0	0	0	1	0	1794	579	20	2	476	2	C15orf27	15	76462158	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	31988	76462158	26069234	11157	14773											
ETFA	2108	broad.mit.edu	37	15	76580230	76580230	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:76580230A>G	ENST00000557943.1	-	5	488	c.408T>C	c.(406-408)atT>atC	p.I136I	ETFA_ENST00000433983.2_Silent_p.I87I|ETFA_ENST00000559602.1_Silent_p.I32I|ETFA_ENST00000560726.1_5'UTR	NM_000126.3	NP_000117.1	P13804	ETFA_HUMAN	electron-transfer-flavoprotein, alpha polypeptide	136					respiratory electron transport chain|transport	mitochondrial matrix	electron carrier activity|flavin adenine dinucleotide binding|oxidoreductase activity			endometrium(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9						ACTTGATTGCAATGATGTCAG	0.363													21	39					0	0	1	0	0	G	76580230	A	G	76580230	2	3	81	1	0	0	0	0	0	0	0	1	5297	126	5	3		3	ETFA	15	76580230	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	118072	76580230	25951162	11158	14774											
SCAPER	49855	broad.mit.edu	37	15	76726652	76726652	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:76726652C>A	ENST00000538941.2	-	26	3280		c.e26-1		SCAPER_ENST00000324767.7_Splice_Site|SCAPER_ENST00000563290.1_Splice_Site	NM_001145923.1	NP_001139395.1	Q9BY12	SCAPE_HUMAN	S-phase cyclin A-associated protein in the ER							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						GAACATAAACCTAGATGAAAA	0.318													4	58					0.00909568	0.00944708	1	1	0	A	76726652	C	A	76726652	5	1	81	1	0	0	0	0	0	0	1	0	13931	695	24	4	1152	4	SCAPER	15	76726652	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	146422	76726652	25804740	11159	14775											
HMG20A	10363	broad.mit.edu	37	15	77750753	77750753	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:77750753G>A	ENST00000381714.3	+	3	432	c.4G>A	c.(4-6)Gaa>Aaa	p.E2K	HMG20A_ENST00000336216.4_Missense_Mutation_p.E2K	NM_018200.2	NP_060670.1	Q9NP66	HM20A_HUMAN	high mobility group 20A	2					chromatin modification	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18						CAGAGAGATGGAAAACTTGAT	0.403													7	43					0	0	1	0	0	A	77750753	G	A	77750753	3	1	81	1	0	0	0	0	1	0	0	0	7262	1175	41	2	6	2	HMG20A	15	77750753	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1024101	77750753	24780639	11160	14776											
LINGO1	84894	broad.mit.edu	37	15	77906437	77906437	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:77906437T>C	ENST00000355300.6	-	2	1986	c.1812A>G	c.(1810-1812)gcA>gcG	p.A604A	LINGO1_ENST00000561030.1_Silent_p.A598A	NM_032808.5	NP_116197.4	Q96FE5	LIGO1_HUMAN	leucine rich repeat and Ig domain containing 1	604					negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31						AGCTGATGCCTGCGTCCGACT	0.652													6	10					0	0	1	0	0	C	77906437	T	C	77906437	2	2	81	1	0	0	0	0	0	0	0	1	8855	1567	55	3		3	LINGO1	15	77906437	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	155684	77906437	24624955	11161	14777											
LINGO1	84894	broad.mit.edu	37	15	77906905	77906905	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:77906905G>A	ENST00000355300.6	-	2	1518	c.1344C>T	c.(1342-1344)gcC>gcT	p.A448A	LINGO1_ENST00000561030.1_Silent_p.A442A	NM_032808.5	NP_116197.4	Q96FE5	LIGO1_HUMAN	leucine rich repeat and Ig domain containing 1	448	Ig-like C2-type.				negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31						GGTCGCCATCGGCCCGGCACA	0.672													3	5					0	0	1	0	0	A	77906905	G	A	77906905	2	1	81	1	0	0	0	0	0	0	0	1	8855	1103	39	1		1	LINGO1	15	77906905	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	468	77906905	24624487	11162	14778											
TBC1D2B	23102	broad.mit.edu	37	15	78317661	78317661	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:78317661C>T	ENST00000409931.3	-	5	1097	c.1026G>A	c.(1024-1026)ctG>ctA	p.L342L	TBC1D2B_ENST00000300584.3_Silent_p.L342L			Q9UPU7	TBD2B_HUMAN	TBC1 domain family, member 2B	342						intracellular	protein binding|Rab GTPase activator activity	p.L342L(2)		breast(3)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26						TCTGGACCTGCAGTTGCATTT	0.532													10	87					0	0	1	0	0	T	78317661	C	T	78317661	2	4	81	1	0	0	0	0	0	0	0	1	15676	697	25	2		2	TBC1D2B	15	78317661	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	410756	78317661	24213731	11163	14779											
SH2D7	646892	broad.mit.edu	37	15	78390415	78390415	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:78390415G>A	ENST00000328828.5	+	3	411	c.411G>A	c.(409-411)atG>atA	p.M137I	SH2D7_ENST00000409568.2_Start_Codon_SNP_p.M1I	NM_001101404.1	NP_001094874.1	A6NKC9	SH2D7_HUMAN	SH2 domain containing 7	137	SH2.		M -> T (in dbSNP:rs2289524).							endometrium(2)|kidney(2)|lung(3)	7						TCAAAGAGATGCTGACTGCTG	0.622													3	12					0	0	1	0	0	A	78390415	G	A	78390415	3	1	81	1	0	0	0	0	1	0	0	0	14293	1319	46	2	421	2	SH2D7	15	78390415	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	72754	78390415	24140977	11164	14780											
ACSBG1	23205	broad.mit.edu	37	15	78473133	78473133	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:78473133G>A	ENST00000258873.4	-	9	1422	c.1217C>T	c.(1216-1218)tCg>tTg	p.S406L	ACSBG1_ENST00000560817.1_Missense_Mutation_p.S164L|ACSBG1_ENST00000541759.1_Missense_Mutation_p.S164L	NM_001199377.1|NM_015162.4	NP_001186306.1|NP_055977.3	Q96GR2	ACBG1_HUMAN	acyl-CoA synthetase bubblegum family member 1	406					long-chain fatty acid metabolic process|myelination|very long-chain fatty acid metabolic process	cytoplasmic membrane-bounded vesicle|endoplasmic reticulum|microsome	ATP binding|long-chain fatty acid-CoA ligase activity|very long-chain fatty acid-CoA ligase activity			endometrium(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	37						CAAGGTCACCGACATGGCCCA	0.637													20	44					0	0	1	0	0	A	78473133	G	A	78473133	3	1	81	1	0	0	0	0	1	0	0	0	173	1059	37	1	981	1	ACSBG1	15	78473133	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	82718	78473133	24058259	11165	14781											
ACSBG1	23205	broad.mit.edu	37	15	78474911	78474911	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:78474911A>G	ENST00000258873.4	-	7	996	c.791T>C	c.(790-792)cTg>cCg	p.L264P	ACSBG1_ENST00000560817.1_Missense_Mutation_p.L22P|ACSBG1_ENST00000541759.1_Missense_Mutation_p.L22P	NM_001199377.1|NM_015162.4	NP_001186306.1|NP_055977.3	Q96GR2	ACBG1_HUMAN	acyl-CoA synthetase bubblegum family member 1	264					long-chain fatty acid metabolic process|myelination|very long-chain fatty acid metabolic process	cytoplasmic membrane-bounded vesicle|endoplasmic reticulum|microsome	ATP binding|long-chain fatty acid-CoA ligase activity|very long-chain fatty acid-CoA ligase activity			endometrium(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	37						GATGGCGTCCAGGGCTTCCTC	0.587													4	32					0	0	1	0	0	G	78474911	A	G	78474911	3	3	81	1	0	0	0	0	1	0	0	0	173	188	7	3	1415	3	ACSBG1	15	78474911	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	1778	78474911	24056481	11166	14782											
ACSBG1	23205	broad.mit.edu	37	15	78526740	78526740	+	Translation_Start_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:78526740C>A	ENST00000541759.1	-	0	127				ACSBG1_ENST00000558828.1_Intron|ACSBG1_ENST00000560817.1_Intron|ACSBG1_ENST00000258873.4_Missense_Mutation_p.R35M			Q96GR2	ACBG1_HUMAN	acyl-CoA synthetase bubblegum family member 1						long-chain fatty acid metabolic process|myelination|very long-chain fatty acid metabolic process	cytoplasmic membrane-bounded vesicle|endoplasmic reticulum|microsome	ATP binding|long-chain fatty acid-CoA ligase activity|very long-chain fatty acid-CoA ligase activity			endometrium(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	37						TTGGGTGGTCCTCACAATCAT	0.552													24	258					1.66031e-10	2.03454e-10	1	1	0	A	78526740	C	A	78526740	1	1	81	1	0	0	0	0	0	0	0	0	173	681	24	4		4	ACSBG1	15	78526740	Translation_Start_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	51829	78526740	24004652	11167	14783											
IREB2	3658	broad.mit.edu	37	15	78730683	78730683	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:78730683G>A	ENST00000258886.8	+	1	153	c.4G>A	c.(4-6)Gac>Aac	p.D2N	IREB2_ENST00000560440.1_Missense_Mutation_p.D2N	NM_004136.2	NP_004127	P48200	IREB2_HUMAN	iron-responsive element binding protein 2	2							4 iron, 4 sulfur cluster binding|metal ion binding|protein binding			central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	41				UCEC - Uterine corpus endometrioid carcinoma (272;0.232)		TCCGGCGATGGACGCCCCAAA	0.657													4	3					0	0	1	0	0	A	78730683	G	A	78730683	3	1	81	1	0	0	0	0	1	0	0	0	7870	1174	41	2	6	2	IREB2	15	78730683	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	203943	78730683	23800709	11168	14784											
IREB2	3658	broad.mit.edu	37	15	78783036	78783036	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:78783036G>A	ENST00000258886.8	+	18	2406	c.2257G>A	c.(2257-2259)Gat>Aat	p.D753N		NM_004136.2	NP_004127	P48200	IREB2_HUMAN	iron-responsive element binding protein 2	753							4 iron, 4 sulfur cluster binding|metal ion binding|protein binding	p.D753N(1)		central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	41				UCEC - Uterine corpus endometrioid carcinoma (272;0.232)		TGTCACAACAGATCATATATC	0.403													71	130					0	0	1	0	0	A	78783036	G	A	78783036	3	1	81	1	0	0	0	0	1	0	0	0	7870	942	33	2	2327	2	IREB2	15	78783036	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	52353	78783036	23748356	11169	14785											
PSMA4	5685	broad.mit.edu	37	15	78834894	78834894	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:78834894C>T	ENST00000044462.7	+	4	266	c.116C>T	c.(115-117)gCa>gTa	p.A39V	PSMA4_ENST00000560217.1_Intron|PSMA4_ENST00000559082.1_Missense_Mutation_p.A39V|PSMA4_ENST00000557929.1_3'UTR|PSMA4_ENST00000558341.1_Missense_Mutation_p.A39V|PSMA4_ENST00000558281.1_Missense_Mutation_p.A39V|PSMA4_ENST00000413382.2_Intron	NM_002789.4	NP_002780.1	P25789	PSA4_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 4	39					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex, alpha-subunit complex	identical protein binding|threonine-type endopeptidase activity			kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9						GGAATTTTAGCAAATGATGGT	0.393													69	124					0	0	1	0	0	T	78834894	C	T	78834894	3	4	81	1	0	0	0	0	1	0	0	0	12718	710	25	2	126	2	PSMA4	15	78834894	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	51858	78834894	23696498	11170	14786											
CHRNA5	1138	broad.mit.edu	37	15	78882475	78882475	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:78882475C>T	ENST00000299565.5	+	5	942	c.742C>T	c.(742-744)Cgc>Tgc	p.R248C	RP11-650L12.2_ENST00000567141.1_RNA|CHRNA5_ENST00000559554.1_Intron	NM_000745.3	NP_000736.2	P30532	ACHA5_HUMAN	cholinergic receptor, nicotinic, alpha 5 (neuronal)	248					behavioral response to nicotine	cell junction|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)|skin(3)	15						TGTAATCAAGCGCCTGCCTCT	0.408													39	59					0	0	1	0	0	T	78882475	C	T	78882475	3	4	81	1	0	0	0	0	1	0	0	0	3408	768	27	1	760	1	CHRNA5	15	78882475	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	47581	78882475	23648917	11171	14787											
CHRNA3	1136	broad.mit.edu	37	15	78893832	78893832	+	Silent	SNP	G	G	A	rs76643872		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:78893832G>A	ENST00000326828.5	-	5	1536	c.1152C>T	c.(1150-1152)agC>agT	p.S384S	CHRNA3_ENST00000348639.3_Silent_p.S384S	NM_000743.4	NP_000734.2	P32297	ACHA3_HUMAN	cholinergic receptor, nicotinic, alpha 3 (neuronal)	384					activation of transmembrane receptor protein tyrosine kinase activity|behavioral response to nicotine|locomotory behavior|regulation of acetylcholine secretion|regulation of dendrite morphogenesis|regulation of excitatory postsynaptic membrane potential|regulation of smooth muscle contraction|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|dendrite|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic density|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						ACTCTGCGCGGCTGAAGCAAT	0.567													33	52					0	0	1	0	0	A	78893832	G	A	78893832	2	1	81	1	0	0	0	0	0	0	0	1	3406	1194	42	2		2	CHRNA3	15	78893832	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	11357	78893832	23637560	11172	14788											
CHRNA3	1136	broad.mit.edu	37	15	78894311	78894311	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:78894311C>T	ENST00000326828.5	-	5	1057	c.673G>A	c.(673-675)Gag>Aag	p.E225K	CHRNA3_ENST00000348639.3_Missense_Mutation_p.E225K	NM_000743.4	NP_000734.2	P32297	ACHA3_HUMAN	cholinergic receptor, nicotinic, alpha 3 (neuronal)	225					activation of transmembrane receptor protein tyrosine kinase activity|behavioral response to nicotine|locomotory behavior|regulation of acetylcholine secretion|regulation of dendrite morphogenesis|regulation of excitatory postsynaptic membrane potential|regulation of smooth muscle contraction|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|dendrite|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic density|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						TAGATCTCCTCGCAGCAGTTG	0.547													3	29					0	0	1	0	0	T	78894311	C	T	78894311	3	4	81	1	0	0	0	0	1	0	0	0	3406	893	31	1	937	1	CHRNA3	15	78894311	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	479	78894311	23637081	11173	14789											
CHRNB4	1143	broad.mit.edu	37	15	78921563	78921563	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:78921563G>T	ENST00000261751.3	-	5	1195	c.1084C>A	c.(1084-1086)Ccc>Acc	p.P362T	CHRNB4_ENST00000412074.2_Intron	NM_000750.3	NP_000741.1	P30926	ACHB4_HUMAN	cholinergic receptor, nicotinic, beta 4 (neuronal)	362					regulation of neurotransmitter secretion|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			endometrium(7)|kidney(1)|lung(13)|prostate(1)	22						GACTTGCTGGGCGGGAAGGCT	0.637													8	30					0.000442599	0.000477972	1	1	0	T	78921563	G	T	78921563	3	4	81	1	0	0	0	0	1	0	0	0	3415	1203	42	5	420	5	CHRNB4	15	78921563	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	27252	78921563	23609829	11174	14790											
CHRNB4	1143	broad.mit.edu	37	15	78923638	78923638	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:78923638G>T	ENST00000261751.3	-	3	352	c.241C>A	c.(241-243)Ctg>Atg	p.L81M	CHRNB4_ENST00000412074.2_Missense_Mutation_p.L81M|CHRNB4_ENST00000560511.1_5'UTR	NM_000750.3	NP_000741.1	P30926	ACHB4_HUMAN	cholinergic receptor, nicotinic, beta 4 (neuronal)	81					regulation of neurotransmitter secretion|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			endometrium(7)|kidney(1)|lung(13)|prostate(1)	22						ACCTGTTTCAGCCAGACATTG	0.552													32	39					4.65686e-17	5.99349e-17	1	1	0	T	78923638	G	T	78923638	3	4	81	1	0	0	0	0	1	0	0	0	3415	962	34	4	1271	4	CHRNB4	15	78923638	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2075	78923638	23607754	11175	14791											
ADAMTS7	11173	broad.mit.edu	37	15	79059357	79059357	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:79059357T>G	ENST00000388820.4	-	19	3106	c.2896A>C	c.(2896-2898)Aat>Cat	p.N966H	ADAMTS7_ENST00000566303.1_5'UTR	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	966	TSP type-1 4.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						CAGAGGACATTTCGGCGCTGA	0.667													9	32					0	0	1	0	0	G	79059357	T	G	79059357	3	3	81	1	0	0	0	0	1	0	0	0	270	1841	64	5	2188	5	ADAMTS7	15	79059357	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	135719	79059357	23472035	11176	14792											
ADAMTS7	11173	broad.mit.edu	37	15	79060602	79060602	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:79060602C>A	ENST00000388820.4	-	17	2729		c.e17-1		ADAMTS7_ENST00000566303.1_Splice_Site	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7						proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						CTCTGCACACCTAGGGGCCAC	0.647													3	14					0.004672	0.00489345	1	1	0	A	79060602	C	A	79060602	5	1	81	1	0	0	0	0	0	0	1	0	270	695	24	4	2574	4	ADAMTS7	15	79060602	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1245	79060602	23470790	11177	14793											
RASGRF1	5923	broad.mit.edu	37	15	79294017	79294018	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:79294017_79294018insT	ENST00000419573.3	-	17	2883_2884	c.2609_2610insA	c.(2608-2610)aacfs	p.N870fs	RASGRF1_ENST00000558480.2_Frame_Shift_Ins_p.N854fs|RASGRF1_ENST00000560334.1_5'UTR|RASGRF1_ENST00000394745.3_Frame_Shift_Ins_p.N86fs	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	872					activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						AAGAATTTTTGTTTTTGACTGA	0.411													8	137	---	---	---	---						T	79294018	-	T	79294017	7	5	81	1	0	1	1	0	0	0	0	0	13124	1368	48	0	1259	0	RASGRF1	15	79294017	Frame_Shift_Ins	INS	-	TCGA-DU-6392-01A-11D-1705-08	233415	79294017	23237375	11178	14794											
RASGRF1	5923	broad.mit.edu	37	15	79317730	79317730	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:79317730G>A	ENST00000419573.3	-	10	1742	c.1468C>T	c.(1468-1470)Cga>Tga	p.R490*	RASGRF1_ENST00000560334.1_5'UTR|RASGRF1_ENST00000558480.2_Nonsense_Mutation_p.R490*	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	490	PH 2.				activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						AAGCACTGTCGCTCGCCCTCT	0.557													47	68					0	0	1	0	0	A	79317730	G	A	79317730	4	1	81	1	0	0	0	0	0	1	0	0	13124	1095	38	1	2429	1	RASGRF1	15	79317730	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	23713	79317730	23213662	11179	14795											
RASGRF1	5923	broad.mit.edu	37	15	79324528	79324528	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:79324528G>A	ENST00000419573.3	-	7	1363	c.1089C>T	c.(1087-1089)taC>taT	p.Y363Y	RASGRF1_ENST00000560334.1_5'UTR|RASGRF1_ENST00000558480.2_Silent_p.Y363Y	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	363	DH.				activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						GCTTGGCCTCGTAGTGCTTCA	0.602													8	16					0	0	1	0	0	A	79324528	G	A	79324528	2	1	81	1	0	0	0	0	0	0	0	1	13124	1140	40	1		1	RASGRF1	15	79324528	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	6798	79324528	23206864	11180	14796											
RASGRF1	5923	broad.mit.edu	37	15	79339118	79339118	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:79339118T>C	ENST00000419573.3	-	5	1122	c.848A>G	c.(847-849)cAc>cGc	p.H283R	RASGRF1_ENST00000560334.1_5'UTR|RASGRF1_ENST00000558480.2_Missense_Mutation_p.H283R	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	283	DH.				activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						GACGTCGTCGTGTGTGATGGG	0.582													28	52					0	0	1	0	0	C	79339118	T	C	79339118	3	2	81	1	0	0	0	0	1	0	0	0	13124	1696	59	3	3069	3	RASGRF1	15	79339118	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	14590	79339118	23192274	11181	14797											
RASGRF1	5923	broad.mit.edu	37	15	79350824	79350824	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:79350824C>T	ENST00000419573.3	-	3	658		c.e3-1		RASGRF1_ENST00000560334.1_Splice_Site|RASGRF1_ENST00000558480.2_Splice_Site	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1						activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						GGTCCTGTAGCTGTGGACAGA	0.587													3	37					0	0	1	0	0	T	79350824	C	T	79350824	5	4	81	1	0	0	0	0	0	0	1	0	13124	811	28	2	3542	2	RASGRF1	15	79350824	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	11706	79350824	23180568	11182	14798											
RASGRF1	5923	broad.mit.edu	37	15	79382709	79382709	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:79382709G>A	ENST00000419573.3	-	1	406	c.132C>T	c.(130-132)ttC>ttT	p.F44F	RASGRF1_ENST00000558480.2_Silent_p.F44F	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	44	PH 1.				activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						GCAGCAGCGCGAACCACTTGG	0.642													37	58					0	0	1	0	0	A	79382709	G	A	79382709	2	1	81	1	0	0	0	0	0	0	0	1	13124	1049	37	1		1	RASGRF1	15	79382709	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	31885	79382709	23148683	11183	14799											
KIAA1024	23251	broad.mit.edu	37	15	79748643	79748643	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:79748643T>C	ENST00000305428.3	+	2	229	c.154T>C	c.(154-156)Tac>Cac	p.Y52H		NM_015206.2	NP_056021.1	Q9UPX6	K1024_HUMAN	KIAA1024	52						integral to membrane				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						TGTGCTCTTCTACACAGCTTG	0.468													23	46					0	0	1	0	0	C	79748643	T	C	79748643	3	2	81	1	0	0	0	0	1	0	0	0	8247	1522	53	3	156	3	KIAA1024	15	79748643	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	365934	79748643	22782749	11184	14800											
MTHFS	10588	broad.mit.edu	37	15	80137593	80137593	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:80137593T>C	ENST00000258874.3	-	3	631	c.571A>G	c.(571-573)Aag>Gag	p.K191E	ST20-MTHFS_ENST00000479961.1_Missense_Mutation_p.K167E	NM_006441.3	NP_006432.1	P49914	MTHFS_HUMAN	5,10-methenyltetrahydrofolate synthetase (5-formyltetrahydrofolate cyclo-ligase)	191					folic acid-containing compound biosynthetic process|formate metabolic process|tetrahydrofolate metabolic process	cytosol|Golgi apparatus|plasma membrane	5-formyltetrahydrofolate cyclo-ligase activity|ATP binding|folic acid binding			endometrium(3)|large_intestine(1)|liver(1)	5				all cancers(203;0.00467)		TCATCTACCTTCATGTCGTTT	0.433													5	104					0	0	1	0	0	C	80137593	T	C	80137593	3	2	81	1	0	0	0	0	1	0	0	0	9980	1792	62	3	44	3	MTHFS	15	80137593	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	388950	80137593	22393799	11185	14801											
MTHFS	10588	broad.mit.edu	37	15	80181638	80181638	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:80181638T>C	ENST00000258874.3	-	2	236	c.176A>G	c.(175-177)cAa>cGa	p.Q59R	ST20-MTHFS_ENST00000479961.1_Missense_Mutation_p.Q35R|ST20-MTHFS_ENST00000494999.1_5'UTR|MTHFS_ENST00000559722.1_5'UTR	NM_006441.3	NP_006432.1	P49914	MTHFS_HUMAN	5,10-methenyltetrahydrofolate synthetase (5-formyltetrahydrofolate cyclo-ligase)	59					folic acid-containing compound biosynthetic process|formate metabolic process|tetrahydrofolate metabolic process	cytosol|Golgi apparatus|plasma membrane	5-formyltetrahydrofolate cyclo-ligase activity|ATP binding|folic acid binding			endometrium(3)|large_intestine(1)|liver(1)	5				all cancers(203;0.00467)		AATTTCATCTTGCATGCTCAG	0.393													39	61					0	0	1	0	0	C	80181638	T	C	80181638	3	2	81	1	0	0	0	0	1	0	0	0	9980	1812	63	3	443	3	MTHFS	15	80181638	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	44045	80181638	22349754	11186	14802											
ZFAND6	54469	broad.mit.edu	37	15	80423623	80423623	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:80423623G>A	ENST00000261749.6	+	6	888	c.466G>A	c.(466-468)Gtg>Atg	p.V156M	ZFAND6_ENST00000559775.1_Missense_Mutation_p.V156M|ZFAND6_ENST00000559157.1_Missense_Mutation_p.V144M|ZFAND6_ENST00000561060.1_Missense_Mutation_p.V156M|ZFAND6_ENST00000558494.1_Missense_Mutation_p.V156M|ZFAND6_ENST00000559835.1_Missense_Mutation_p.V156M|ZFAND6_ENST00000558087.1_Missense_Mutation_p.V156M|ZFAND6_ENST00000558688.1_Missense_Mutation_p.V156M	NM_001242913.1|NM_001242914.1|NM_019006.3	NP_001229842.1|NP_001229843.1|NP_061879.2	Q6FIF0	ZFAN6_HUMAN	zinc finger, AN1-type domain 6	156							DNA binding|zinc ion binding			cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)	11						CAGGAAGAAAGTGGGACTTAC	0.348													23	40					0	0	1	0	0	A	80423623	G	A	80423623	3	1	81	1	0	0	0	0	1	0	0	0	17689	1029	36	2	480	2	ZFAND6	15	80423623	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	241985	80423623	22107769	11187	14803											
ARNT2	9915	broad.mit.edu	37	15	80873696	80873696	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:80873696G>A	ENST00000533983.1	+	18	2175	c.1836G>A	c.(1834-1836)tcG>tcA	p.S612S	ARNT2_ENST00000527771.1_Silent_p.S612S|ARNT2_ENST00000303329.4_Silent_p.S623S			Q9HBZ2	ARNT2_HUMAN	aryl-hydrocarbon receptor nuclear translocator 2	623					central nervous system development|in utero embryonic development|response to hypoxia		aryl hydrocarbon receptor binding|DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|pancreas(2)|prostate(2)|skin(1)	35			BRCA - Breast invasive adenocarcinoma(143;0.134)			CTACCTCCTCGCCAAGTGGGA	0.577													24	42					0	0	1	0	0	A	80873696	G	A	80873696	2	1	81	1	0	0	0	0	0	0	0	1	965	1074	38	1		1	ARNT2	15	80873696	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	450073	80873696	21657696	11188	14804											
KIAA1199	57214	broad.mit.edu	37	15	81212433	81212433	+	Splice_Site	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:81212433A>G	ENST00000394685.3	+	15	2216		c.e15-1		KIAA1199_ENST00000356249.5_Splice_Site|KIAA1199_ENST00000220244.3_Splice_Site|RP11-351M8.2_ENST00000560873.1_RNA			Q8WUJ3	K1199_HUMAN	KIAA1199											breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						TGACCCCTGCAGATCAAGGAC	0.483													14	28					0	0	1	0	0	G	81212433	A	G	81212433	5	3	81	1	0	0	0	0	0	0	1	0	8255	202	7	3	1846	3	KIAA1199	15	81212433	Splice_Site	SNP	A	TCGA-DU-6392-01A-11D-1705-08	338737	81212433	21318959	11189	14805											
KIAA1199	57214	broad.mit.edu	37	15	81234667	81234667	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:81234667G>A	ENST00000394685.3	+	27	4107	c.3688G>A	c.(3688-3690)Gct>Act	p.A1230T	KIAA1199_ENST00000356249.5_Missense_Mutation_p.A1230T|KIAA1199_ENST00000220244.3_Missense_Mutation_p.A1230T|RP11-351M8.2_ENST00000560873.1_RNA			Q8WUJ3	K1199_HUMAN	KIAA1199	1230										breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						GAACGACTTCGCTTACATTGA	0.483													30	49					0	0	1	0	0	A	81234667	G	A	81234667	3	1	81	1	0	0	0	0	1	0	0	0	8255	1087	38	1	3786	1	KIAA1199	15	81234667	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	22234	81234667	21296725	11190	14806	72	2									
KIAA1199	57214	broad.mit.edu	37	15	81234672	81234672	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:81234672C>T	ENST00000394685.3	+	27	4112	c.3693C>T	c.(3691-3693)taC>taT	p.Y1231Y	KIAA1199_ENST00000356249.5_Silent_p.Y1231Y|KIAA1199_ENST00000220244.3_Silent_p.Y1231Y|RP11-351M8.2_ENST00000560873.1_RNA			Q8WUJ3	K1199_HUMAN	KIAA1199	1231										breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						ACTTCGCTTACATTGAAGTAA	0.493													26	50					0	0	1	0	0	T	81234672	C	T	81234672	2	4	81	1	0	0	0	0	0	0	0	1	8255	489	17	2		2	KIAA1199	15	81234672	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	5	81234672	21296720	11191	14807	72	2									
C15orf26	161502	broad.mit.edu	37	15	81429027	81429027	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:81429027C>A	ENST00000286732.4	+	3	413	c.330C>A	c.(328-330)ccC>ccA	p.P110P		NM_173528.2	NP_775799.2	Q6P656	CO026_HUMAN	chromosome 15 open reading frame 26	110										endometrium(1)|kidney(4)|large_intestine(5)|lung(6)|skin(1)	17						TAGAGGTACCCTGTGGCCTGA	0.433													22	34					1.10513e-12	1.38486e-12	1	1	0	A	81429027	C	A	81429027	2	1	81	1	0	0	0	0	0	0	0	1	1793	668	24	4		4	C15orf26	15	81429027	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	194355	81429027	21102365	11192	14808											
IL16	3603	broad.mit.edu	37	15	81517878	81517878	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:81517878G>T	ENST00000394660.2	+	2	498	c.138G>T	c.(136-138)gaG>gaT	p.E46D	IL16_ENST00000302987.4_Missense_Mutation_p.E46D	NM_001172128.1|NM_172217.3	NP_001165599.1|NP_757366.2	Q14005	IL16_HUMAN	interleukin 16	46					immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						ATCCCTTTGAGATTTCCTTGG	0.522													18	42					8.28177e-16	1.05926e-15	1	1	0	T	81517878	G	T	81517878	3	4	81	1	0	0	0	0	1	0	0	0	7677	933	33	4	140	4	IL16	15	81517878	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	88851	81517878	21013514	11193	14809											
IL16	3603	broad.mit.edu	37	15	81565500	81565501	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:81565500_81565501insT	ENST00000394660.2	+	6	1105_1106	c.745_746insT	c.(745-747)attfs	p.I249fs	IL16_ENST00000302987.4_Frame_Shift_Ins_p.I249fs	NM_001172128.1|NM_172217.3	NP_001165599.1|NP_757366.2	Q14005	IL16_HUMAN	interleukin 16	249	Interaction with GRIN2A.|PDZ 1.				immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						CGTCAAAACCATTTTTGCAGGG	0.51													21	41	---	---	---	---						T	81565501	-	T	81565500	7	5	81	1	0	1	1	0	0	0	0	0	7677	217	8	0	763	0	IL16	15	81565500	Frame_Shift_Ins	INS	-	TCGA-DU-6392-01A-11D-1705-08	47622	81565500	20965892	11194	14810											
IL16	3603	broad.mit.edu	37	15	81593699	81593699	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:81593699G>T	ENST00000394660.2	+	15	3524	c.3164G>T	c.(3163-3165)aGa>aTa	p.R1055I	IL16_ENST00000394652.2_Missense_Mutation_p.R354I|IL16_ENST00000302987.4_Missense_Mutation_p.R1055I	NM_001172128.1|NM_172217.3	NP_001165599.1|NP_757366.2	Q14005	IL16_HUMAN	interleukin 16	1055	Interaction with HTLV-1 tax.				immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						TCAGAGCTGAGAGAATATACA	0.438													5	40					1.23904e-05	1.39156e-05	1	1	0	T	81593699	G	T	81593699	3	4	81	1	0	0	0	0	1	0	0	0	7677	942	33	4	3218	4	IL16	15	81593699	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	28199	81593699	20937693	11195	14811											
EFTUD1	79631	broad.mit.edu	37	15	82443885	82443885	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:82443885G>A	ENST00000268206.7	-	18	3078	c.2910C>T	c.(2908-2910)cgC>cgT	p.R970R	EFTUD1_ENST00000359445.3_Silent_p.R919R	NM_024580.5	NP_078856.4	Q7Z2Z2	ETUD1_HUMAN	elongation factor Tu GTP binding domain containing 1	970					mature ribosome assembly		GTP binding|GTPase activity|ribosome binding|translation elongation factor activity			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32						GCAGTGCATAGCGACATGCTT	0.473													45	62					0	0	1	0	0	A	82443885	G	A	82443885	2	1	81	1	0	0	0	0	0	0	0	1	4986	958	34	2		2	EFTUD1	15	82443885	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	850186	82443885	20087507	11196	14812											
FAM154B	283726	broad.mit.edu	37	15	82563946	82563946	+	Missense_Mutation	SNP	C	C	T	rs145916991		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:82563946C>T	ENST00000339465.5	+	2	125	c.56C>T	c.(55-57)tCg>tTg	p.S19L	FAM154B_ENST00000427381.2_Missense_Mutation_p.S4L|FAM154B_ENST00000565432.1_Missense_Mutation_p.S32L|FAM154B_ENST00000565501.1_3'UTR	NM_001008226.1	NP_001008227.1	Q658L1	F154B_HUMAN	family with sequence similarity 154, member B	19								p.S19L(1)		autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2)	19						TATTTCAGGTCGGATTATTGT	0.323													15	16					0	0	1	0	0	T	82563946	C	T	82563946	3	4	81	1	0	0	0	0	1	0	0	0	5494	893	31	1	62	1	FAM154B	15	82563946	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	120061	82563946	19967446	11197	14813											
FAM154B	283726	broad.mit.edu	37	15	82574798	82574798	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:82574798C>T	ENST00000339465.5	+	3	661	c.592C>T	c.(592-594)Ctc>Ttc	p.L198F	FAM154B_ENST00000427381.2_Missense_Mutation_p.L183F|FAM154B_ENST00000565501.1_3'UTR	NM_001008226.1	NP_001008227.1	Q658L1	F154B_HUMAN	family with sequence similarity 154, member B	198										autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2)	19						AACTGCAAAACTCTGCAGACC	0.463													23	30					0	0	1	0	0	T	82574798	C	T	82574798	3	4	81	1	0	0	0	0	1	0	0	0	5494	565	20	2	602	2	FAM154B	15	82574798	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	10852	82574798	19956594	11198	14814											
CPEB1	64506	broad.mit.edu	37	15	83215914	83215914	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:83215914T>G	ENST00000563800.1	-	10	3279	c.1554A>C	c.(1552-1554)aaA>aaC	p.K518N	CPEB1_ENST00000564522.1_Missense_Mutation_p.K416N|CPEB1_ENST00000568128.1_Missense_Mutation_p.K491N|CPEB1_ENST00000450751.2_Missense_Mutation_p.K416N|CPEB1_ENST00000261723.6_Missense_Mutation_p.K494N|CPEB1_ENST00000423133.2_Missense_Mutation_p.K416N|CPEB1_ENST00000398592.2_Missense_Mutation_p.K265N|RP11-379H8.1_ENST00000568285.1_Intron|CPEB1_ENST00000568757.1_Missense_Mutation_p.K416N|CPEB1_ENST00000562019.1_Missense_Mutation_p.K496N|CPEB1_ENST00000398591.2_Missense_Mutation_p.K421N|RP11-152F13.10_ENST00000562833.1_Missense_Mutation_p.K226T			Q9BZB8	CPEB1_HUMAN	cytoplasmic polyadenylation element binding protein 1	496	Necessary for stress granule assembly and correct localization in dcp1 bodies.				mRNA processing|regulation of translation	cell junction|cytoplasmic mRNA processing body|dendrite|postsynaptic density|postsynaptic membrane	nucleotide binding|RNA binding			breast(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(1)|lung(9)|ovary(1)|skin(1)	28			BRCA - Breast invasive adenocarcinoma(143;0.229)			ACTTGGTGGTTTTGATCTCCA	0.493													33	40					0	0	1	0	0	G	83215914	T	G	83215914	3	3	81	1	0	0	0	0	1	0	0	0	3823	1838	64	5	224	5	CPEB1	15	83215914	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	641116	83215914	19315478	11199	14815											
CPEB1	64506	broad.mit.edu	37	15	83296017	83296017	+	Translation_Start_Site	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:83296017T>C	ENST00000568757.1	-	0	324				CPEB1_ENST00000563800.1_Missense_Mutation_p.I66M|CPEB1_ENST00000568128.1_Missense_Mutation_p.I39M|CPEB1_ENST00000450751.2_De_novo_Start_InFrame|CPEB1_ENST00000562019.1_Missense_Mutation_p.I39M			Q9BZB8	CPEB1_HUMAN	cytoplasmic polyadenylation element binding protein 1						mRNA processing|regulation of translation	cell junction|cytoplasmic mRNA processing body|dendrite|postsynaptic density|postsynaptic membrane	nucleotide binding|RNA binding			breast(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(1)|lung(9)|ovary(1)|skin(1)	28			BRCA - Breast invasive adenocarcinoma(143;0.229)			AATTATCCAATATGGCATTTA	0.408													5	84					0	0	1	0	0	C	83296017	T	C	83296017	1	2	81	1	0	0	0	0	0	0	0	0	3823	1396	49	3		3	CPEB1	15	83296017	Translation_Start_Site	SNP	T	TCGA-DU-6392-01A-11D-1705-08	80103	83296017	19235375	11200	14816											
CPEB1	64506	broad.mit.edu	37	15	83296072	83296072	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:83296072G>A	ENST00000563800.1	-	2	1868	c.143C>T	c.(142-144)gCa>gTa	p.A48V	CPEB1_ENST00000568128.1_Missense_Mutation_p.A21V|CPEB1_ENST00000568757.1_5'UTR|CPEB1_ENST00000450751.2_5'UTR|CPEB1_ENST00000562019.1_Missense_Mutation_p.A21V			Q9BZB8	CPEB1_HUMAN	cytoplasmic polyadenylation element binding protein 1	21					mRNA processing|regulation of translation	cell junction|cytoplasmic mRNA processing body|dendrite|postsynaptic density|postsynaptic membrane	nucleotide binding|RNA binding			breast(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(1)|lung(9)|ovary(1)|skin(1)	28			BRCA - Breast invasive adenocarcinoma(143;0.229)			GAGAGCAGGTGCTTCCTGGTT	0.403													13	28					0	0	1	0	0	A	83296072	G	A	83296072	3	1	81	1	0	0	0	0	1	0	0	0	3823	1319	46	2	1682	2	CPEB1	15	83296072	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	55	83296072	19235320	11201	14817											
FSD2	123722	broad.mit.edu	37	15	83455764	83455764	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:83455764C>T	ENST00000334574.8	-	2	560	c.379G>A	c.(379-381)Gcg>Acg	p.A127T	FSD2_ENST00000541889.1_Missense_Mutation_p.A127T			A1L4K1	FSD2_HUMAN	fibronectin type III and SPRY domain containing 2	127										breast(2)|central_nervous_system(1)|large_intestine(5)|lung(10)	18						TCGGCCTCCGCTGCCTCTCCA	0.587													4	60					0	0	1	0	0	T	83455764	C	T	83455764	3	4	81	1	0	0	0	0	1	0	0	0	6106	797	28	2	1918	2	FSD2	15	83455764	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	159692	83455764	19075628	11202	14818											
BTBD1	53339	broad.mit.edu	37	15	83725176	83725176	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:83725176G>T	ENST00000261721.4	-	2	725	c.523C>A	c.(523-525)Ctt>Att	p.L175I	BTBD1_ENST00000379403.2_Missense_Mutation_p.L175I|RP11-382A20.5_ENST00000566841.1_RNA|RP11-382A20.6_ENST00000568441.1_RNA|RP11-382A20.7_ENST00000570202.1_RNA	NM_001011885.1|NM_025238.3	NP_001011885.1|NP_079514.1	Q9H0C5	BTBD1_HUMAN	BTB (POZ) domain containing 1	175						cytoplasmic mRNA processing body|protein complex	protein binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)	10				all cancers(203;0.000186)		TCTGCCCTAAGATGTTTGGTG	0.368													12	30					1.61879e-10	1.98515e-10	1	1	0	T	83725176	G	T	83725176	3	4	81	1	0	0	0	0	1	0	0	0	1539	942	33	4	953	4	BTBD1	15	83725176	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	269412	83725176	18806216	11203	14819											
TM6SF1	53346	broad.mit.edu	37	15	83784642	83784642	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:83784642G>A	ENST00000322019.9	+	3	516	c.242G>A	c.(241-243)gGa>gAa	p.G81E	TM6SF1_ENST00000564988.1_3'UTR|TM6SF1_ENST00000379390.6_Missense_Mutation_p.G81E|TM6SF1_ENST00000379386.4_Missense_Mutation_p.G81E|TM6SF1_ENST00000565774.1_Missense_Mutation_p.G81E			Q9BZW5	TM6S1_HUMAN	transmembrane 6 superfamily member 1	81						integral to membrane				endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	15						CTCATCATAGGACTGGAGCAA	0.423													12	20					0	0	1	0	0	A	83784642	G	A	83784642	3	1	81	1	0	0	0	0	1	0	0	0	16032	1174	41	2	252	2	TM6SF1	15	83784642	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	59466	83784642	18746750	11204	14820											
BNC1	646	broad.mit.edu	37	15	83931981	83931981	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:83931981C>T	ENST00000345382.2	-	4	2107	c.2022G>A	c.(2020-2022)ctG>ctA	p.L674L	RP11-382A20.4_ENST00000565495.1_RNA|BNC1_ENST00000569704.1_Silent_p.L667L	NM_001717.3	NP_001708.3	Q01954	BNC1_HUMAN	basonuclin 1	674					epidermis development|positive regulation of cell proliferation	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						GGCGCTGCTGCAGTTCCATGT	0.522													10	48					0	0	1	0	0	T	83931981	C	T	83931981	2	4	81	1	0	0	0	0	0	0	0	1	1473	697	25	2		2	BNC1	15	83931981	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	147339	83931981	18599411	11205	14821											
ADAMTSL3	57188	broad.mit.edu	37	15	84442351	84442351	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:84442351G>A	ENST00000286744.5	+	4	490	c.266G>A	c.(265-267)cGg>cAg	p.R89Q	ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.R89Q	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	89	TSP type-1 1.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			GACTGCTCCCGGACCTGTGGG	0.507													26	29					0	0	1	0	0	A	84442351	G	A	84442351	3	1	81	1	0	0	0	0	1	0	0	0	275	1116	39	1	276	1	ADAMTSL3	15	84442351	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	510370	84442351	18089041	11206	14822											
ADAMTSL3	57188	broad.mit.edu	37	15	84581936	84581936	+	Missense_Mutation	SNP	C	C	T	rs139144597		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:84581936C>T	ENST00000286744.5	+	16	2017	c.1793C>T	c.(1792-1794)aCg>aTg	p.T598M	ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.T598M	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	598	TSP type-1 4.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			CTCACATTCACGCAGACTGAG	0.622													7	53					0	0	1	0	0	T	84581936	C	T	84581936	3	4	81	1	0	0	0	0	1	0	0	0	275	536	19	1	1851	1	ADAMTSL3	15	84581936	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	139585	84581936	17949456	11207	14823											
ADAMTSL3	57188	broad.mit.edu	37	15	84657498	84657498	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:84657498C>T	ENST00000286744.5	+	22	3996	c.3772C>T	c.(3772-3774)Caa>Taa	p.Q1258*	ADAMTSL3_ENST00000567476.1_Nonsense_Mutation_p.Q1258*	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	1258	Ig-like C2-type 2.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			AAGGAAAGAACAAGGCATATA	0.363													7	58					0	0	1	0	0	T	84657498	C	T	84657498	4	4	81	1	0	0	0	0	0	1	0	0	275	479	17	2	3854	2	ADAMTSL3	15	84657498	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	75562	84657498	17873894	11208	14824											
ADAMTSL3	57188	broad.mit.edu	37	15	84706505	84706505	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:84706505T>G	ENST00000286744.5	+	30	5247	c.5023T>G	c.(5023-5025)Tgt>Ggt	p.C1675G	ADAMTSL3_ENST00000567476.1_Intron	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	1675	PLAC.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			TCTTAATTTGTGTTCTCTAGA	0.383													9	108					0	0	1	0	0	G	84706505	T	G	84706505	3	3	81	1	0	0	0	0	1	0	0	0	275	1696	59	5	5137	5	ADAMTSL3	15	84706505	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	49007	84706505	17824887	11209	14825											
SEC11A	23478	broad.mit.edu	37	15	85230935	85230935	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:85230935G>A	ENST00000268220.7	-	3	872	c.232C>T	c.(232-234)Cga>Tga	p.R78*	SEC11A_ENST00000560266.1_Nonsense_Mutation_p.R78*|SEC11A_ENST00000455959.3_Nonsense_Mutation_p.R52*|SEC11A_ENST00000558134.1_Nonsense_Mutation_p.R78*	NM_014300.2	NP_055115.1	P67812	SC11A_HUMAN	SEC11 homolog A (S. cerevisiae)	78					energy reserve metabolic process|regulation of insulin secretion|signal peptide processing	endoplasmic reticulum membrane|integral to membrane|microsome	protein binding|serine-type peptidase activity			ovary(1)	1			BRCA - Breast invasive adenocarcinoma(143;0.199)			TCTCCCACTCGTATGGGATCT	0.388													43	56					0	0	1	0	0	A	85230935	G	A	85230935	4	1	81	1	0	0	0	0	0	1	0	0	14032	1153	40	1	323	1	SEC11A	15	85230935	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	524430	85230935	17300457	11210	14826											
ZNF592	9640	broad.mit.edu	37	15	85341659	85341659	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:85341659G>A	ENST00000299927.3	+	4	2712	c.2690G>A	c.(2689-2691)tGc>tAc	p.C897Y	ZNF592_ENST00000560079.2_Missense_Mutation_p.C897Y			Q92610	ZN592_HUMAN	zinc finger protein 592	897					cell death|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(143;0.0587)			TGCCCTGAGTGCCCACTCTTG	0.567													14	22					0	0	1	0	0	A	85341659	G	A	85341659	3	1	81	1	0	0	0	0	1	0	0	0	18079	1319	46	2	2704	2	ZNF592	15	85341659	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	110724	85341659	17189733	11211	14827											
ZNF592	9640	broad.mit.edu	37	15	85342424	85342424	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:85342424G>T	ENST00000299927.3	+	6	3142	c.3120G>T	c.(3118-3120)aaG>aaT	p.K1040N	ZNF592_ENST00000560079.2_Missense_Mutation_p.K1040N			Q92610	ZN592_HUMAN	zinc finger protein 592	1040					cell death|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(143;0.0587)			ACACAGTAAAGAAGTTCTACA	0.547													18	96					4.81078e-24	6.34666e-24	1	1	0	T	85342424	G	T	85342424	3	4	81	1	0	0	0	0	1	0	0	0	18079	933	33	4	3142	4	ZNF592	15	85342424	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	765	85342424	17188968	11212	14828											
ALPK3	57538	broad.mit.edu	37	15	85382937	85382937	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:85382937C>T	ENST00000258888.5	+	5	1200	c.1033C>T	c.(1033-1035)Cga>Tga	p.R345*		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	345	Ig-like 1.				heart development	nucleus	ATP binding|protein serine/threonine kinase activity			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			CTCTAGGTGTCGAGAAGAAGA	0.632													27	43					0	0	1	0	0	T	85382937	C	T	85382937	4	4	81	1	0	0	0	0	0	1	0	0	542	876	31	1	1051	1	ALPK3	15	85382937	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	40513	85382937	17148455	11213	14829											
ALPK3	57538	broad.mit.edu	37	15	85400565	85400565	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:85400565A>G	ENST00000258888.5	+	6	3369	c.3202A>G	c.(3202-3204)Acg>Gcg	p.T1068A		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	1068					heart development	nucleus	ATP binding|protein serine/threonine kinase activity			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			GGAGGTACCCACGATGCCTTC	0.652													6	24					0	0	1	0	0	G	85400565	A	G	85400565	3	3	81	1	0	0	0	0	1	0	0	0	542	159	6	3	3224	3	ALPK3	15	85400565	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	17628	85400565	17130827	11214	14830											
ALPK3	57538	broad.mit.edu	37	15	85406145	85406145	+	Splice_Site	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:85406145A>G	ENST00000258888.5	+	10	5182	c.5015A>G	c.(5014-5016)cAg>cGg	p.Q1672R		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	1672	Alpha-type protein kinase.				heart development	nucleus	ATP binding|protein serine/threonine kinase activity			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			GTCACCATCCAGGTACTATGT	0.557													9	53					0	0	1	0	0	G	85406145	A	G	85406145	5	3	81	1	0	0	0	0	0	0	1	0	542	202	7	3	5053	3	ALPK3	15	85406145	Splice_Site	SNP	A	TCGA-DU-6392-01A-11D-1705-08	5580	85406145	17125247	11215	14831											
SLC28A1	9154	broad.mit.edu	37	15	85478633	85478633	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:85478633C>A	ENST00000394573.1	+	15	1667	c.1465C>A	c.(1465-1467)Ctg>Atg	p.L489M	SLC28A1_ENST00000538177.1_Intron|SLC28A1_ENST00000286749.3_Missense_Mutation_p.L489M|SLC28A1_ENST00000537216.1_Missense_Mutation_p.L489M|SLC28A1_ENST00000537624.1_Missense_Mutation_p.L489M	NM_004213.3	NP_004204.3	O00337	S28A1_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 1	489					nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	41			BRCA - Breast invasive adenocarcinoma(143;0.0587)			AGCTGAGCTGCTGGGGATCAA	0.597													26	50					4.72057e-08	5.5797e-08	1	1	0	A	85478633	C	A	85478633	3	1	81	1	0	0	0	0	1	0	0	0	14586	796	28	4	1586	4	SLC28A1	15	85478633	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	72488	85478633	17052759	11216	14832											
PDE8A	5151	broad.mit.edu	37	15	85681118	85681118	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:85681118G>A	ENST00000310298.4	+	23	2726	c.2474G>A	c.(2473-2475)cGa>cAa	p.R825Q	PDE8A_ENST00000557957.1_Missense_Mutation_p.R753Q|PDE8A_ENST00000394553.1_Missense_Mutation_p.R825Q|PDE8A_ENST00000339708.5_Missense_Mutation_p.R779Q			O60658	PDE8A_HUMAN	phosphodiesterase 8A	825					cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	25	Colorectal(223;0.227)		BRCA - Breast invasive adenocarcinoma(143;0.0608)			CGGAACCTCCGACCACCTCCT	0.498													9	11					0	0	1	0	0	A	85681118	G	A	85681118	3	1	81	1	0	0	0	0	1	0	0	0	11700	1058	37	1	2560	1	PDE8A	15	85681118	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	202485	85681118	16850274	11217	14833											
AKAP13	11214	broad.mit.edu	37	15	86077162	86077163	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:86077162_86077163insT	ENST00000560302.1	+	4	699_700	c.529_530insT	c.(529-531)cttfs	p.L177fs	AKAP13_ENST00000361243.2_Intron|AKAP13_ENST00000394518.2_Intron			Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	177					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						GATATTTCTACTTTTTTTTTAA	0.396													13	13	---	---	---	---						T	86077163	-	T	86077162	7	5	81	1	0	1	1	0	0	0	0	0	446	580	20	0		0	AKAP13	15	86077162	Frame_Shift_Ins	INS	-	TCGA-DU-6392-01A-11D-1705-08	396044	86077162	16454230	11218	14834											
AKAP13	11214	broad.mit.edu	37	15	86087014	86087014	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:86087014C>T	ENST00000394518.2	+	5	585	c.490C>T	c.(490-492)Cga>Tga	p.R164*	AKAP13_ENST00000361243.2_Nonsense_Mutation_p.R164*	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	164					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						TGCTGGCCCGCGAGAGACATT	0.458													12	24					0	0	1	0	0	T	86087014	C	T	86087014	4	4	81	1	0	0	0	0	0	1	0	0	446	760	27	1	504	1	AKAP13	15	86087014	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	9852	86087014	16444378	11219	14835											
AKAP13	11214	broad.mit.edu	37	15	86123477	86123477	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:86123477G>T	ENST00000394518.2	+	7	2273	c.2178G>T	c.(2176-2178)caG>caT	p.Q726H	AKAP13_ENST00000361243.2_Missense_Mutation_p.Q726H	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	726					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						GGGATACCCAGGAACGTGCGG	0.478													31	34					7.26314e-15	9.23631e-15	1	1	0	T	86123477	G	T	86123477	3	4	81	1	0	0	0	0	1	0	0	0	446	991	35	4	2200	4	AKAP13	15	86123477	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	36463	86123477	16407915	11220	14836											
AKAP13	11214	broad.mit.edu	37	15	86124819	86124819	+	Missense_Mutation	SNP	G	G	A	rs147919379		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:86124819G>A	ENST00000394518.2	+	7	3615	c.3520G>A	c.(3520-3522)Gct>Act	p.A1174T	AKAP13_ENST00000361243.2_Missense_Mutation_p.A1174T	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	1174					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						CATGGGTGACGCTGAGGAAGC	0.552													26	41					0	0	1	0	0	A	86124819	G	A	86124819	3	1	81	1	0	0	0	0	1	0	0	0	446	1087	38	1	3542	1	AKAP13	15	86124819	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1342	86124819	16406573	11221	14837											
AKAP13	11214	broad.mit.edu	37	15	86125208	86125208	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:86125208C>A	ENST00000394518.2	+	7	4004	c.3909C>A	c.(3907-3909)ttC>ttA	p.F1303L	AKAP13_ENST00000361243.2_Missense_Mutation_p.F1303L	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	1303					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						TGAGTACTTTCCCACCTGGGG	0.527													27	37					4.7796e-09	5.73439e-09	1	1	0	A	86125208	C	A	86125208	3	1	81	1	0	0	0	0	1	0	0	0	446	854	30	5	3931	5	AKAP13	15	86125208	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	389	86125208	16406184	11222	14838											
NTRK3	4916	broad.mit.edu	37	15	88472533	88472533	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:88472533G>T	ENST00000394480.2	-	17	2343	c.2022C>A	c.(2020-2022)caC>caA	p.H674Q	NTRK3_ENST00000558676.1_Missense_Mutation_p.H666Q|NTRK3_ENST00000542733.2_Missense_Mutation_p.H576Q|NTRK3_ENST00000557856.1_Missense_Mutation_p.H666Q|NTRK3_ENST00000360948.2_Missense_Mutation_p.H674Q|NTRK3_ENST00000355254.2_Missense_Mutation_p.H674Q|NTRK3_ENST00000357724.2_Missense_Mutation_p.H666Q	NM_001243101.1|NM_002530.3	NP_001230030.1|NP_002521.2	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3		Protein kinase.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity		ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			GGTGCACAAAGTGCTGGGAGG	0.592			T	ETV6	"congenital fibrosarcoma, Secretory breast "					TSP Lung(13;0.10)			7	49					8.12818e-05	8.94031e-05	1	1	0	T	88472533	G	T	88472533	3	4	81	1	0	0	0	0	1	0	0	0	10756	1020	36	4	513	4	NTRK3	15	88472533	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2347325	88472533	14058859	11223	14839											
NTRK3	4916	broad.mit.edu	37	15	88524540	88524540	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:88524540C>A	ENST00000317501.3	-	14	1798	c.1637G>T	c.(1636-1638)aGa>aTa	p.R546I	NTRK3_ENST00000394480.2_Intron|NTRK3_ENST00000558676.1_Intron|NTRK3_ENST00000542733.2_Intron|NTRK3_ENST00000557856.1_Intron|NTRK3_ENST00000360948.2_Intron|NTRK3_ENST00000355254.2_Intron|NTRK3_ENST00000558306.1_Intron|NTRK3_ENST00000357724.2_Intron|NTRK3_ENST00000540489.2_Missense_Mutation_p.R546I	NM_001007156.2	NP_001007157.1	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	0	Protein kinase.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	p.R546I(1)	ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			tagatgatctctattgtcctt	0.438			T	ETV6	"congenital fibrosarcoma, Secretory breast "					TSP Lung(13;0.10)			4	39					0.00909568	0.00944708	1	1	0	A	88524540	C	A	88524540	3	1	81	1	0	0	0	0	1	0	0	0	10756	913	32	4	1168	4	NTRK3	15	88524540	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	52007	88524540	14006852	11224	14840											
NTRK3	4916	broad.mit.edu	37	15	88678612	88678612	+	Silent	SNP	C	C	T	rs145564369		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:88678612C>T	ENST00000394480.2	-	10	1245	c.924G>A	c.(922-924)gtG>gtA	p.V308V	NTRK3_ENST00000558676.1_Silent_p.V308V|NTRK3_ENST00000317501.3_Silent_p.V308V|NTRK3_ENST00000542733.2_Silent_p.V210V|NTRK3_ENST00000557856.1_Silent_p.V308V|NTRK3_ENST00000360948.2_Silent_p.V308V|NTRK3_ENST00000355254.2_Silent_p.V308V|NTRK3_ENST00000357724.2_Silent_p.V308V|NTRK3_ENST00000540489.2_Silent_p.V308V	NM_001243101.1|NM_002530.3	NP_001230030.1|NP_002521.2	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3						transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity		ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			CCTCCAGGCTCACCACACGTG	0.592			T	ETV6	"congenital fibrosarcoma, Secretory breast "					TSP Lung(13;0.10)			9	18					0	0	1	0	0	T	88678612	C	T	88678612	2	4	81	1	0	0	0	0	0	0	0	1	10756	813	29	2		2	NTRK3	15	88678612	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	154072	88678612	13852780	11225	14841											
MRPL46	26589	broad.mit.edu	37	15	89008934	89008934	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:89008934T>G	ENST00000312475.4	-	2	340	c.299A>C	c.(298-300)aAg>aCg	p.K100T		NM_022163.3	NP_071446.2	Q9H2W6	RM46_HUMAN	mitochondrial ribosomal protein L46	100						mitochondrion|ribosome	hydrolase activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)	5	Lung NSC(78;0.203)		BRCA - Breast invasive adenocarcinoma(143;0.188)			AGCTTTCTTCTTTGCCAGTCG	0.423													11	116					0	0	1	0	0	G	89008934	T	G	89008934	3	3	81	1	0	0	0	0	1	0	0	0	9859	1609	56	5	552	5	MRPL46	15	89008934	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	330322	89008934	13522458	11226	14842											
ACAN	176	broad.mit.edu	37	15	89400981	89400981	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:89400981C>A	ENST00000439576.2	+	12	5539	c.5165C>A	c.(5164-5166)tCt>tAt	p.S1722Y	ACAN_ENST00000352105.7_Missense_Mutation_p.S1722Y|ACAN_ENST00000559004.1_Missense_Mutation_p.S1722Y|ACAN_ENST00000561243.1_Missense_Mutation_p.S1722Y	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	1722					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			GCATCTGGGTCTCCTGATGTC	0.527													67	111					6.06247e-24	7.99563e-24	1	1	0	A	89400981	C	A	89400981	3	1	81	1	0	0	0	0	1	0	0	0	117	913	32	4	5207	4	ACAN	15	89400981	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	392047	89400981	13130411	11227	14843											
ACAN	176	broad.mit.edu	37	15	89402488	89402488	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:89402488G>T	ENST00000439576.2	+	12	7046	c.6672G>T	c.(6670-6672)caG>caT	p.Q2224H	ACAN_ENST00000352105.7_Missense_Mutation_p.Q2224H|ACAN_ENST00000559004.1_Missense_Mutation_p.Q2224H|ACAN_ENST00000561243.1_Missense_Mutation_p.Q2224H	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	2224					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			AGTGGACCCAGCAGACCCAGC	0.567													4	25					0.014758	0.0152304	1	1	0	T	89402488	G	T	89402488	3	4	81	1	0	0	0	0	1	0	0	0	117	962	34	4	6714	4	ACAN	15	89402488	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1507	89402488	13128904	11228	14844											
MFGE8	4240	broad.mit.edu	37	15	89442660	89442660	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:89442660C>T	ENST00000539437.1	-	9	1242	c.1106G>A	c.(1105-1107)cGc>cAc	p.R369H	MFGE8_ENST00000542878.1_Missense_Mutation_p.R333H|MFGE8_ENST00000268151.7_Missense_Mutation_p.R325H|MFGE8_ENST00000566497.1_Missense_Mutation_p.R377H|MFGE8_ENST00000268150.8_Missense_Mutation_p.R377H			Q08431	MFGM_HUMAN	milk fat globule-EGF factor 8 protein	377	F5/8 type C 2.				angiogenesis|cell adhesion|interspecies interaction between organisms|single fertilization					breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	22	Lung NSC(78;0.0392)|all_lung(78;0.077)					CAGGGCGATGCGGTTGTGCCA	0.622													37	59					0	0	1	0	0	T	89442660	C	T	89442660	3	4	81	1	0	0	0	0	1	0	0	0	9570	768	27	1	37	1	MFGE8	15	89442660	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	40172	89442660	13088732	11229	14845											
ABHD2	11057	broad.mit.edu	37	15	89659564	89659564	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:89659564T>C	ENST00000352732.5	+	3	526	c.6T>C	c.(4-6)aaT>aaC	p.N2N	ABHD2_ENST00000565973.1_Silent_p.N2N|ABHD2_ENST00000355100.3_Silent_p.N2N	NM_152924.4	NP_690888.1	P08910	ABHD2_HUMAN	abhydrolase domain containing 2	2						integral to membrane	carboxylesterase activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|soft_tissue(1)	23	Lung NSC(78;0.0472)|all_lung(78;0.089)					TCAAGATGAATGCCATGCTGG	0.562													16	41					0	0	1	0	0	C	89659564	T	C	89659564	2	2	81	1	0	0	0	0	0	0	0	1	82	1461	51	3		3	ABHD2	15	89659564	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	216904	89659564	12871828	11230	14846											
ABHD2	11057	broad.mit.edu	37	15	89719101	89719101	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:89719101C>A	ENST00000352732.5	+	6	1117	c.597C>A	c.(595-597)acC>acA	p.T199T	ABHD2_ENST00000565973.1_Silent_p.T199T|ABHD2_ENST00000355100.3_Silent_p.T199T	NM_152924.4	NP_690888.1	P08910	ABHD2_HUMAN	abhydrolase domain containing 2	199						integral to membrane	carboxylesterase activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|soft_tissue(1)	23	Lung NSC(78;0.0472)|all_lung(78;0.089)					ATCCCCTGACCCAGCTGGTCG	0.532													23	44					1.1804e-14	1.50034e-14	1	1	0	A	89719101	C	A	89719101	2	1	81	1	0	0	0	0	0	0	0	1	82	610	22	5		5	ABHD2	15	89719101	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	59537	89719101	12812291	11231	14847	73	2									
ABHD2	11057	broad.mit.edu	37	15	89719110	89719110	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:89719110C>T	ENST00000352732.5	+	6	1126	c.606C>T	c.(604-606)gtC>gtT	p.V202V	ABHD2_ENST00000565973.1_Silent_p.V202V|ABHD2_ENST00000355100.3_Silent_p.V202V	NM_152924.4	NP_690888.1	P08910	ABHD2_HUMAN	abhydrolase domain containing 2	202						integral to membrane	carboxylesterase activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|soft_tissue(1)	23	Lung NSC(78;0.0472)|all_lung(78;0.089)					CCCAGCTGGTCGTCGTGGGCT	0.537													33	35					0	0	1	0	0	T	89719110	C	T	89719110	2	4	81	1	0	0	0	0	0	0	0	1	82	871	31	1		1	ABHD2	15	89719110	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	9	89719110	12812282	11232	14848	73	2									
ABHD2	11057	broad.mit.edu	37	15	89736483	89736483	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:89736483G>A	ENST00000352732.5	+	10	1534	c.1014G>A	c.(1012-1014)atG>atA	p.M338I	ABHD2_ENST00000565973.1_Missense_Mutation_p.M338I|ABHD2_ENST00000355100.3_Missense_Mutation_p.M338I	NM_152924.4	NP_690888.1	P08910	ABHD2_HUMAN	abhydrolase domain containing 2	338						integral to membrane	carboxylesterase activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|soft_tissue(1)	23	Lung NSC(78;0.0472)|all_lung(78;0.089)					TTCCTCTCATGCTGGTTAATG	0.433													7	72					0	0	1	0	0	A	89736483	G	A	89736483	3	1	81	1	0	0	0	0	1	0	0	0	82	1319	46	2	1044	2	ABHD2	15	89736483	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	17373	89736483	12794909	11233	14849											
FANCI	55215	broad.mit.edu	37	15	89804856	89804856	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:89804856A>G	ENST00000310775.7	+	5	415	c.329A>G	c.(328-330)aAt>aGt	p.N110S	FANCI_ENST00000300027.8_Missense_Mutation_p.N110S|FANCI_ENST00000451393.2_5'UTR|FANCI_ENST00000567996.1_Missense_Mutation_p.N110S	NM_001113378.1	NP_001106849.1	Q9NVI1	FANCI_HUMAN	Fanconi anemia, complementation group I	110					cell cycle|DNA repair	nucleoplasm	protein binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	Lung NSC(78;0.0472)|all_lung(78;0.089)					GAATTAGCCAATGAGTTTATT	0.383								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				11	164					0	0	1	0	0	G	89804856	A	G	89804856	3	3	81	1	0	0	0	0	1	0	0	0	5702	101	4	3	343	3	FANCI	15	89804856	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	68373	89804856	12726536	11234	14850											
POLG	5428	broad.mit.edu	37	15	89865974	89865974	+	Splice_Site	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:89865974T>C	ENST00000268124.5	-	14	2758	c.2425A>G	c.(2425-2427)Agc>Ggc	p.S809G	POLG_ENST00000442287.2_Splice_Site_p.S809G	NM_001126131.1|NM_002693.2	NP_001119603.1|NP_002684.1	P54098	DPOG1_HUMAN	polymerase (DNA directed), gamma	809					base-excision repair, gap-filling|cell death|DNA-dependent DNA replication	mitochondrial nucleoid	DNA binding|DNA-directed DNA polymerase activity|protease binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2)	33	Lung NSC(78;0.0472)|all_lung(78;0.089)		STAD - Stomach adenocarcinoma(125;0.165)			GTGGCCCACCTGATACGTTTA	0.597								DNA polymerases (catalytic subunits)					13	235					0	0	1	0	0	C	89865974	T	C	89865974	5	2	81	1	0	0	0	0	0	0	1	0	12248	1594	55	3	1334	3	POLG	15	89865974	Splice_Site	SNP	T	TCGA-DU-6392-01A-11D-1705-08	61118	89865974	12665418	11235	14851											
POLG	5428	broad.mit.edu	37	15	89871701	89871701	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:89871701C>T	ENST00000268124.5	-	6	1569	c.1236G>A	c.(1234-1236)ccG>ccA	p.P412P	POLG_ENST00000442287.2_Silent_p.P412P	NM_001126131.1|NM_002693.2	NP_001119603.1|NP_002684.1	P54098	DPOG1_HUMAN	polymerase (DNA directed), gamma	412					base-excision repair, gap-filling|cell death|DNA-dependent DNA replication	mitochondrial nucleoid	DNA binding|DNA-directed DNA polymerase activity|protease binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2)	33	Lung NSC(78;0.0472)|all_lung(78;0.089)		STAD - Stomach adenocarcinoma(125;0.165)			CCAAGAAGAGCGGTAGCTGCT	0.602								DNA polymerases (catalytic subunits)					9	17					0	0	1	0	0	T	89871701	C	T	89871701	2	4	81	1	0	0	0	0	0	0	0	1	12248	755	27	1		1	POLG	15	89871701	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	5727	89871701	12659691	11236	14852											
WDR93	56964	broad.mit.edu	37	15	90278765	90278765	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:90278765T>A	ENST00000268130.7	+	14	1690	c.1589T>A	c.(1588-1590)gTc>gAc	p.V530D	WDR93_ENST00000560294.1_Missense_Mutation_p.V502D|WDR93_ENST00000444934.2_Missense_Mutation_p.V247D	NM_020212.1	NP_064597.1	Q6P2C0	WDR93_HUMAN	WD repeat domain 93	530					electron transport chain	mitochondrial inner membrane	oxidoreductase activity, acting on NADH or NADPH			NS(1)|breast(3)|endometrium(2)|kidney(4)|large_intestine(5)|liver(2)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	33	Lung NSC(78;0.0237)|all_lung(78;0.0478)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|BRCA - Breast invasive adenocarcinoma(143;0.128)			GTGGCCCCAGTCCCAGCCTTA	0.443													6	66					0	0	1	0	0	A	90278765	T	A	90278765	3	1	81	1	0	0	0	0	1	0	0	0	17400	1667	58	5	1639	5	WDR93	15	90278765	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	407064	90278765	12252627	11237	14853											
ANPEP	290	broad.mit.edu	37	15	90328653	90328653	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:90328653G>A	ENST00000300060.6	-	21	3144	c.2831C>T	c.(2830-2832)aCg>aTg	p.T944M		NM_001150.2	NP_001141.2	P15144	AMPN_HUMAN	alanyl (membrane) aminopeptidase	944	Metalloprotease.				angiogenesis|cell differentiation|interspecies interaction between organisms	cytosol|ER-Golgi intermediate compartment|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		Ezetimibe(DB00973)	GTTGGCTTTCGTCTTCTCCAG	0.547													55	66					0	0	1	0	0	A	90328653	G	A	90328653	3	1	81	1	0	0	0	0	1	0	0	0	704	1145	40	1	76	1	ANPEP	15	90328653	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	49888	90328653	12202739	11238	14854											
ANPEP	290	broad.mit.edu	37	15	90347138	90347138	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:90347138C>T	ENST00000300060.6	-	7	1588	c.1275G>A	c.(1273-1275)gcG>gcA	p.A425A		NM_001150.2	NP_001141.2	P15144	AMPN_HUMAN	alanyl (membrane) aminopeptidase	425	Metalloprotease.				angiogenesis|cell differentiation|interspecies interaction between organisms	cytosol|ER-Golgi intermediate compartment|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding	p.A425A(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		Ezetimibe(DB00973)	AGGTGGGCTCCGCATAGTCAG	0.632													7	24					0	0	1	0	0	T	90347138	C	T	90347138	2	4	81	1	0	0	0	0	0	0	0	1	704	639	23	1		1	ANPEP	15	90347138	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	18485	90347138	12184254	11239	14855											
ANPEP	290	broad.mit.edu	37	15	90349357	90349357	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:90349357G>A	ENST00000300060.6	-	2	771	c.458C>T	c.(457-459)aCt>aTt	p.T153I		NM_001150.2	NP_001141.2	P15144	AMPN_HUMAN	alanyl (membrane) aminopeptidase	153	Metalloprotease.				angiogenesis|cell differentiation|interspecies interaction between organisms	cytosol|ER-Golgi intermediate compartment|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		Ezetimibe(DB00973)	CACCAGCTCAGTCTTGTCAAT	0.607													16	39					0	0	1	0	0	A	90349357	G	A	90349357	3	1	81	1	0	0	0	0	1	0	0	0	704	1029	36	2	2525	2	ANPEP	15	90349357	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2219	90349357	12182035	11240	14856											
ZNF710	374655	broad.mit.edu	37	15	90610756	90610756	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:90610756C>T	ENST00000268154.4	+	2	638	c.387C>T	c.(385-387)gaC>gaT	p.D129D		NM_198526.2	NP_940928.2	Q8N1W2	ZN710_HUMAN	zinc finger protein 710	129					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(1)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	19	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.00769)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.129)			TGCCAGGTGACGACAAGGACG	0.657													5	5					0	0	1	0	0	T	90610756	C	T	90610756	2	4	81	1	0	0	0	0	0	0	0	1	18171	535	19	1		1	ZNF710	15	90610756	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	261399	90610756	11920636	11241	14857											
ZNF710	374655	broad.mit.edu	37	15	90611596	90611596	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:90611596C>T	ENST00000268154.4	+	2	1478	c.1227C>T	c.(1225-1227)tgC>tgT	p.C409C		NM_198526.2	NP_940928.2	Q8N1W2	ZN710_HUMAN	zinc finger protein 710	409					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(1)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	19	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.00769)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.129)			GCCATGTCTGCGTCGAGTGCG	0.652													16	31					0	0	1	0	0	T	90611596	C	T	90611596	2	4	81	1	0	0	0	0	0	0	0	1	18171	776	27	1		1	ZNF710	15	90611596	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	840	90611596	11919796	11242	14858											
SEMA4B	10509	broad.mit.edu	37	15	90770825	90770825	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:90770825G>T	ENST00000411539.2	+	13	1985	c.1725G>T	c.(1723-1725)aaG>aaT	p.K575N	SEMA4B_ENST00000332496.6_Missense_Mutation_p.K575N|SEMA4B_ENST00000379122.3_Missense_Mutation_p.K570N	NM_198925.2	NP_945119.1			sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4B											NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)	12	Melanoma(11;0.00551)|Lung NSC(78;0.0125)|all_lung(78;0.0272)		BRCA - Breast invasive adenocarcinoma(143;0.0107)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.217)			CCAGCGCCAAGGACCTTTGCA	0.597													10	22					4.36969e-10	5.3233e-10	1	1	0	T	90770825	G	T	90770825	3	4	81	1	0	0	0	0	1	0	0	0	14086	991	35	4	1775	4	SEMA4B	15	90770825	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	159229	90770825	11760567	11243	14859											
IQGAP1	8826	broad.mit.edu	37	15	90934099	90934099	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:90934099C>T	ENST00000268182.5	+	2	273	c.149C>T	c.(148-150)gCg>gTg	p.A50V	IQGAP1_ENST00000560738.1_Intron	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	50	CH.				energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction	actin filament|cytoplasm|midbody|nucleus|plasma membrane	calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity			breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			TTGGAAGAAGCGAAGAGGTAA	0.423													26	45					0	0	1	0	0	T	90934099	C	T	90934099	3	4	81	1	0	0	0	0	1	0	0	0	7858	768	27	1	155	1	IQGAP1	15	90934099	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	163274	90934099	11597293	11244	14860											
IQGAP1	8826	broad.mit.edu	37	15	90972822	90972822	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:90972822C>T	ENST00000268182.5	+	4	438	c.314C>T	c.(313-315)gCg>gTg	p.A105V	IQGAP1_ENST00000560738.1_Intron	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	105	CH.				energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction	actin filament|cytoplasm|midbody|nucleus|plasma membrane	calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity			breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			TTTTTCTAGGCGACTGGCCTC	0.343													18	40					0	0	1	0	0	T	90972822	C	T	90972822	5	4	81	1	0	0	0	0	0	0	1	0	7858	782	27	1	328	1	IQGAP1	15	90972822	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	38723	90972822	11558570	11245	14861											
IQGAP1	8826	broad.mit.edu	37	15	90996049	90996049	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:90996049G>A	ENST00000268182.5	+	12	1329	c.1205G>A	c.(1204-1206)gGt>gAt	p.G402D	IQGAP1_ENST00000560738.1_Intron	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	402					energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction	actin filament|cytoplasm|midbody|nucleus|plasma membrane	calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity			breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			ATCCAGAAGGGTGTTGCTGAG	0.512													34	58					0	0	1	0	0	A	90996049	G	A	90996049	3	1	81	1	0	0	0	0	1	0	0	0	7858	1261	44	2	1251	2	IQGAP1	15	90996049	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	23227	90996049	11535343	11246	14862											
IQGAP1	8826	broad.mit.edu	37	15	91025201	91025201	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:91025201C>A	ENST00000268182.5	+	27	3463	c.3339C>A	c.(3337-3339)ccC>ccA	p.P1113P	IQGAP1_ENST00000560738.1_Silent_p.P541P	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	1113	C1.|Ras-GAP.				energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction	actin filament|cytoplasm|midbody|nucleus|plasma membrane	calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity			breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			GCAAACTGCCCTATGATGTGA	0.468													5	30					0.0215528	0.0221217	1	1	0	A	91025201	C	A	91025201	2	1	81	1	0	0	0	0	0	0	0	1	7858	668	24	4		4	IQGAP1	15	91025201	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	29152	91025201	11506191	11247	14863											
IQGAP1	8826	broad.mit.edu	37	15	91025491	91025491	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:91025491C>T	ENST00000268182.5	+	28	3657	c.3533C>T	c.(3532-3534)gCt>gTt	p.A1178V	IQGAP1_ENST00000560738.1_Missense_Mutation_p.A606V	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	1178	C1.|Ras-GAP.				energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction	actin filament|cytoplasm|midbody|nucleus|plasma membrane	calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity			breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			TTCCCTGATGCTGGTGAGGAT	0.493											OREG0023473	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	36					0	0	1	0	0	T	91025491	C	T	91025491	3	4	81	1	0	0	0	0	1	0	0	0	7858	797	28	2	3643	2	IQGAP1	15	91025491	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	290	91025491	11505901	11248	14864											
IQGAP1	8826	broad.mit.edu	37	15	91027504	91027504	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:91027504G>A	ENST00000268182.5	+	30	3965	c.3841G>A	c.(3841-3843)Gtg>Atg	p.V1281M	IQGAP1_ENST00000560738.1_Missense_Mutation_p.V709M	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	1281	C2.				energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction	actin filament|cytoplasm|midbody|nucleus|plasma membrane	calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity			breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			TAAATTTAATGTGGATGAGTA	0.398													23	74					0	0	1	0	0	A	91027504	G	A	91027504	3	1	81	1	0	0	0	0	1	0	0	0	7858	1377	48	2	3959	2	IQGAP1	15	91027504	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2013	91027504	11503888	11249	14865											
IQGAP1	8826	broad.mit.edu	37	15	91030306	91030306	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:91030306G>A	ENST00000268182.5	+	32	4269	c.4145G>A	c.(4144-4146)cGa>cAa	p.R1382Q	IQGAP1_ENST00000560738.1_Missense_Mutation_p.R810Q	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	1382	C2.				energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction	actin filament|cytoplasm|midbody|nucleus|plasma membrane	calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity			breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			ATGGATGCTCGAACCATCTTA	0.463													19	45					0	0	1	0	0	A	91030306	G	A	91030306	3	1	81	1	0	0	0	0	1	0	0	0	7858	1058	37	1	4271	1	IQGAP1	15	91030306	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2802	91030306	11501086	11250	14866											
CRTC3	64784	broad.mit.edu	37	15	91136970	91136970	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:91136970G>T	ENST00000420329.2	+	3	481	c.334G>T	c.(334-336)Gac>Tac	p.D112Y	CRTC3_ENST00000268184.6_Missense_Mutation_p.D112Y|CRTC3_ENST00000558619.1_3'UTR|CRTC3_ENST00000560098.1_Intron	NM_001042574.2|NM_022769.4	NP_001036039.1|NP_073606.3	Q6UUV7	CRTC3_HUMAN	CREB regulated transcription coactivator 3	112					interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus			CRTC3/MAML2(26)	breast(1)|endometrium(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	20	Melanoma(11;0.00551)|Lung NSC(78;0.0931)|all_lung(78;0.163)		BRCA - Breast invasive adenocarcinoma(143;0.0745)			AAGGTCTGGGGACAAGCCAGG	0.502			T	MAML2	salivary gland mucoepidermoid								18	38					5.35267e-07	6.21096e-07	1	1	0	T	91136970	G	T	91136970	3	4	81	1	0	0	0	0	1	0	0	0	3924	1174	41	5	344	5	CRTC3	15	91136970	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	106664	91136970	11394422	11251	14867											
CRTC3	64784	broad.mit.edu	37	15	91145602	91145602	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:91145602A>C	ENST00000420329.2	+	4	545	c.398A>C	c.(397-399)gAt>gCt	p.D133A	CRTC3_ENST00000268184.6_Missense_Mutation_p.D133A|CRTC3_ENST00000558619.1_3'UTR	NM_001042574.2|NM_022769.4	NP_001036039.1|NP_073606.3	Q6UUV7	CRTC3_HUMAN	CREB regulated transcription coactivator 3	133					interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus			CRTC3/MAML2(26)	breast(1)|endometrium(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	20	Melanoma(11;0.00551)|Lung NSC(78;0.0931)|all_lung(78;0.163)		BRCA - Breast invasive adenocarcinoma(143;0.0745)			CAGCCTCTGGATGAGAGTTGG	0.318			T	MAML2	salivary gland mucoepidermoid								3	43					0	0	1	0	0	C	91145602	A	C	91145602	3	2	81	1	0	0	0	0	1	0	0	0	3924	333	12	4	412	4	CRTC3	15	91145602	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	8632	91145602	11385790	11252	14868											
BLM	641	broad.mit.edu	37	15	91290665	91290665	+	Missense_Mutation	SNP	C	C	T	rs148545569		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:91290665C>T	ENST00000355112.3	+	2	161	c.43C>T	c.(43-45)Cgt>Tgt	p.R15C	BLM_ENST00000560509.1_Missense_Mutation_p.R15C	NM_000057.2	NP_000048.1	P54132	BLM_HUMAN	Bloom syndrome, RecQ helicase-like	15					double-strand break repair via homologous recombination|G2 phase of mitotic cell cycle|G2/M transition DNA damage checkpoint|negative regulation of cell division|positive regulation of transcription, DNA-dependent|protein oligomerization|regulation of cyclin-dependent protein kinase activity|replication fork processing|replication fork protection|response to X-ray	cytoplasm|lateral element|nuclear matrix|nucleolus|PML body	ATP binding|bubble DNA binding|DNA strand annealing activity|four-way junction helicase activity|G-quadruplex DNA binding|p53 binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(78;0.0875)|all_lung(78;0.109)		Lung(145;0.189)			GCAACTAGAACGTCACTCAGC	0.363			"Mis, N, F"			"leukemia, lymphoma, skin squamous cell , other cancers"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Bloom syndrome				8	14					0	0	1	0	0	T	91290665	C	T	91290665	3	4	81	1	0	0	0	0	1	0	0	0	1444	536	19	1	45	1	BLM	15	91290665	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	145063	91290665	11240727	11253	14869											
FURIN	5045	broad.mit.edu	37	15	91424521	91424521	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:91424521G>A	ENST00000268171.3	+	16	2077	c.1798G>A	c.(1798-1800)Gag>Aag	p.E600K		NM_002569.2	NP_002560.1	P09958	FURIN_HUMAN	furin (paired basic amino acid cleaving enzyme)	600	Cys-rich.				cell proliferation|negative regulation of low-density lipoprotein particle receptor catabolic process|negative regulation of transforming growth factor-beta1 production|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|Notch signaling pathway|peptide biosynthetic process|peptidyl-glutamic acid carboxylation|post-translational protein modification|secretion by cell|signal peptide processing|transforming growth factor beta receptor signaling pathway|viral assembly, maturation, egress, and release	cell surface|Golgi lumen|Golgi membrane|integral to membrane|membrane raft|plasma membrane|trans-Golgi network|trans-Golgi network transport vesicle	metal ion binding|nerve growth factor binding|peptide binding|protease binding|serine-type endopeptidase activity|serine-type endopeptidase inhibitor activity			breast(1)|central_nervous_system(4)|endometrium(4)|large_intestine(3)|liver(2)|lung(13)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	36	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)			GGCAGTGTGCGAGGAAGGCTT	0.607													8	49					0	0	1	0	0	A	91424521	G	A	91424521	3	1	81	1	0	0	0	0	1	0	0	0	6134	1059	37	1	1856	1	FURIN	15	91424521	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	133856	91424521	11106871	11254	14870											
FES	2242	broad.mit.edu	37	15	91436526	91436526	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:91436526G>A	ENST00000328850.3	+	16	2069	c.1927G>A	c.(1927-1929)Gac>Aac	p.D643N	FES_ENST00000394302.1_Missense_Mutation_p.D502N|FES_ENST00000394300.3_Missense_Mutation_p.D585N|FES_ENST00000444422.2_Missense_Mutation_p.D573N|FES_ENST00000450438.2_Missense_Mutation_p.D515N|FES_ENST00000414248.2_Missense_Mutation_p.D515N	NM_002005.3	NP_001996.1	P07332	FES_HUMAN	feline sarcoma oncogene	643	Protein kinase.				axon guidance|cell proliferation|peptidyl-tyrosine phosphorylation	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			lung(2)|ovary(1)	3	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			TGCAGGGGGCGACTTCCTGAC	0.687													6	8					0	0	1	0	0	A	91436526	G	A	91436526	3	1	81	1	0	0	0	0	1	0	0	0	5853	1058	37	1	1985	1	FES	15	91436526	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	12005	91436526	11094866	11255	14871											
FES	2242	broad.mit.edu	37	15	91437250	91437250	+	Missense_Mutation	SNP	A	A	G	rs147795278	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:91437250A>G	ENST00000328850.3	+	18	2430	c.2288A>G	c.(2287-2289)aAc>aGc	p.N763S	FES_ENST00000394302.1_Missense_Mutation_p.N622S|FES_ENST00000394300.3_Missense_Mutation_p.N705S|FES_ENST00000444422.2_Missense_Mutation_p.N693S|FES_ENST00000450438.2_Missense_Mutation_p.N635S|FES_ENST00000414248.2_Missense_Mutation_p.N635S	NM_002005.3	NP_001996.1	P07332	FES_HUMAN	feline sarcoma oncogene	763	Protein kinase.				axon guidance|cell proliferation|peptidyl-tyrosine phosphorylation	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			lung(2)|ovary(1)	3	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			CCCTATCCCAACCTCAGCAAT	0.612													82	202					0	0	1	0	0	G	91437250	A	G	91437250	3	3	81	1	0	0	0	0	1	0	0	0	5853	43	2	3	2354	3	FES	15	91437250	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	724	91437250	11094142	11256	14872											
MAN2A2	4122	broad.mit.edu	37	15	91453772	91453772	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:91453772G>A	ENST00000360468.3	+	10	1637	c.1619G>A	c.(1618-1620)cGc>cAc	p.R540H	MAN2A2_ENST00000431652.2_Missense_Mutation_p.R48H|MAN2A2_ENST00000559717.1_Missense_Mutation_p.R540H	NM_006122.2	NP_006113.2	P49641	MA2A2_HUMAN	mannosidase, alpha, class 2A, member 2	540					mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			GCTCACGCTCGCCGCTCTGGT	0.627													17	28					0	0	1	0	0	A	91453772	G	A	91453772	3	1	81	1	0	0	0	0	1	0	0	0	9265	1087	38	1	1657	1	MAN2A2	15	91453772	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	16522	91453772	11077620	11257	14873											
UNC45A	55898	broad.mit.edu	37	15	91491397	91491397	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:91491397G>A	ENST00000394275.2	+	15	2411	c.1576G>A	c.(1576-1578)Gca>Aca	p.A526T	UNC45A_ENST00000418476.2_Missense_Mutation_p.A541T	NM_001039675.1	NP_001034764.1	Q9H3U1	UN45A_HUMAN	unc-45 homolog A (C. elegans)	541					cell differentiation|muscle organ development	nucleus|perinuclear region of cytoplasm	protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)			CCAGATCGACGCAGGCACTCG	0.602													30	61					0	0	1	0	0	A	91491397	G	A	91491397	3	1	81	1	0	0	0	0	1	0	0	0	17048	1087	38	1	1667	1	UNC45A	15	91491397	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	37625	91491397	11039995	11258	14874											
VPS33B	26276	broad.mit.edu	37	15	91551163	91551163	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:91551163C>T	ENST00000333371.3	-	7	788	c.435G>A	c.(433-435)ttG>ttA	p.L145L	VPS33B_ENST00000535843.1_Silent_p.L54L|VPS33B_ENST00000535906.1_Silent_p.L118L	NM_018668.3	NP_061138.3	Q9H267	VP33B_HUMAN	vacuolar protein sorting 33 homolog B (yeast)	145					cellular membrane fusion|lysosome localization|melanosome localization|platelet alpha granule organization|protein transport|vesicle docking involved in exocytosis	late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm|platelet alpha granule	protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|stomach(2)	16	Lung NSC(78;0.0987)|all_lung(78;0.175)					CAAGAGGCAGCAAAGAGAAGG	0.512													37	53					0	0	1	0	0	T	91551163	C	T	91551163	2	4	81	1	0	0	0	0	0	0	0	1	17262	709	25	2		2	VPS33B	15	91551163	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	59766	91551163	10980229	11259	14875											
SV2B	9899	broad.mit.edu	37	15	91801681	91801681	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:91801681A>C	ENST00000394232.1	+	5	1285	c.815A>C	c.(814-816)cAc>cCc	p.H272P	SV2B_ENST00000545111.2_Missense_Mutation_p.H121P|SV2B_ENST00000330276.4_Missense_Mutation_p.H272P	NM_014848.4	NP_055663.1	Q7L1I2	SV2B_HUMAN	synaptic vesicle glycoprotein 2B	272					neurotransmitter transport	acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42	Lung NSC(78;0.0987)|all_lung(78;0.172)		BRCA - Breast invasive adenocarcinoma(143;0.0895)			ACCAATTACCACTTCCATAGC	0.522													8	53					0	0	1	0	0	C	91801681	A	C	91801681	3	2	81	1	0	0	0	0	1	0	0	0	15474	159	6	5	829	5	SV2B	15	91801681	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	250518	91801681	10729711	11260	14876											
SV2B	9899	broad.mit.edu	37	15	91809856	91809856	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:91809856G>T	ENST00000394232.1	+	7	1523	c.1053G>T	c.(1051-1053)gaG>gaT	p.E351D	SV2B_ENST00000545111.2_Missense_Mutation_p.E200D|SV2B_ENST00000330276.4_Missense_Mutation_p.E351D	NM_014848.4	NP_055663.1	Q7L1I2	SV2B_HUMAN	synaptic vesicle glycoprotein 2B	351					neurotransmitter transport	acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42	Lung NSC(78;0.0987)|all_lung(78;0.172)		BRCA - Breast invasive adenocarcinoma(143;0.0895)			AATTCATTGAGATCCAAAGTT	0.408													7	63					7.48243e-07	8.64403e-07	1	1	0	T	91809856	G	T	91809856	3	4	81	1	0	0	0	0	1	0	0	0	15474	933	33	4	1075	4	SV2B	15	91809856	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	8175	91809856	10721536	11261	14877											
SLCO3A1	28232	broad.mit.edu	37	15	92647619	92647619	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:92647619C>T	ENST00000318445.6	+	4	1070	c.856C>T	c.(856-858)Cca>Tca	p.P286S	SLCO3A1_ENST00000555549.1_3'UTR|SLCO3A1_ENST00000424469.2_Missense_Mutation_p.P286S	NM_013272.3	NP_037404.2	Q9UIG8	SO3A1_HUMAN	solute carrier organic anion transporter family, member 3A1	286					sodium-independent organic anion transport	integral to membrane|plasma membrane	sodium-independent organic anion transmembrane transporter activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	25	Lung NSC(78;0.0158)|all_lung(78;0.0255)		BRCA - Breast invasive adenocarcinoma(143;0.0841)			GTTTGGGTTTCCACAGTCCCT	0.607													27	53					0	0	1	0	0	T	92647619	C	T	92647619	3	4	81	1	0	0	0	0	1	0	0	0	14783	855	30	2	870	2	SLCO3A1	15	92647619	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	837763	92647619	9883773	11262	14878											
ST8SIA2	8128	broad.mit.edu	37	15	92988138	92988138	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:92988138G>A	ENST00000268164.3	+	5	1058	c.821G>A	c.(820-822)cGc>cAc	p.R274H	ST8SIA2_ENST00000539113.1_Missense_Mutation_p.R253H	NM_006011.3	NP_006002.1	Q92186	SIA8B_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2	274					axon guidance|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			endometrium(2)|large_intestine(6)|lung(9)|skin(2)|urinary_tract(1)	20	Lung NSC(78;0.0893)|all_lung(78;0.125)		BRCA - Breast invasive adenocarcinoma(143;0.0355)|OV - Ovarian serous cystadenocarcinoma(32;0.203)			CCCTCGCTGCGCCTGCTGCAC	0.622													19	48					0	0	1	0	0	A	92988138	G	A	92988138	3	1	81	1	0	0	0	0	1	0	0	0	15288	1087	38	1	839	1	ST8SIA2	15	92988138	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	340519	92988138	9543254	11263	14879											
ST8SIA2	8128	broad.mit.edu	37	15	93007423	93007423	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:93007423C>T	ENST00000268164.3	+	6	1173	c.936C>T	c.(934-936)ctC>ctT	p.L312L	ST8SIA2_ENST00000539113.1_Silent_p.L291L	NM_006011.3	NP_006002.1	Q92186	SIA8B_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2	312					axon guidance|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			endometrium(2)|large_intestine(6)|lung(9)|skin(2)|urinary_tract(1)	20	Lung NSC(78;0.0893)|all_lung(78;0.125)		BRCA - Breast invasive adenocarcinoma(143;0.0355)|OV - Ovarian serous cystadenocarcinoma(32;0.203)			AAATCTACCTCTACGGCTTCT	0.522													8	13					0	0	1	0	0	T	93007423	C	T	93007423	2	4	81	1	0	0	0	0	0	0	0	1	15288	900	32	2		2	ST8SIA2	15	93007423	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	19285	93007423	9523969	11264	14880											
ST8SIA2	8128	broad.mit.edu	37	15	93007444	93007444	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:93007444G>A	ENST00000268164.3	+	6	1194	c.957G>A	c.(955-957)ccG>ccA	p.P319P	ST8SIA2_ENST00000539113.1_Silent_p.P298P	NM_006011.3	NP_006002.1	Q92186	SIA8B_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2	319					axon guidance|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			endometrium(2)|large_intestine(6)|lung(9)|skin(2)|urinary_tract(1)	20	Lung NSC(78;0.0893)|all_lung(78;0.125)		BRCA - Breast invasive adenocarcinoma(143;0.0355)|OV - Ovarian serous cystadenocarcinoma(32;0.203)			GGCCCTTTCCGCTGGATCAGA	0.517													13	30					0	0	1	0	0	A	93007444	G	A	93007444	2	1	81	1	0	0	0	0	0	0	0	1	15288	1074	38	1		1	ST8SIA2	15	93007444	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	21	93007444	9523948	11265	14881											
CHD2	1106	broad.mit.edu	37	15	93467605	93467605	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:93467605T>C	ENST00000394196.4	+	3	1185	c.117T>C	c.(115-117)agT>agC	p.S39S	CHD2_ENST00000557381.1_Silent_p.S39S|CHD2_ENST00000536619.1_Silent_p.S52S|CHD2_ENST00000420239.2_Silent_p.S39S	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	39	Ser-rich.				regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			AGTCGGAAAGTGAGCAGGGAA	0.468													12	85					0	0	1	0	0	C	93467605	T	C	93467605	2	2	81	1	0	0	0	0	0	0	0	1	3347	1693	59	3		3	CHD2	15	93467605	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	460161	93467605	9063787	11266	14882											
CHD2	1106	broad.mit.edu	37	15	93489432	93489432	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:93489432A>G	ENST00000394196.4	+	12	2431	c.1363A>G	c.(1363-1365)Aca>Gca	p.T455A	CHD2_ENST00000557381.1_Missense_Mutation_p.T455A|CHD2_ENST00000536619.1_Missense_Mutation_p.T468A|CHD2_ENST00000420239.2_Missense_Mutation_p.T455A	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	455	Chromo 2.				regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			AACCATCCCAACAAGAGAATG	0.398													3	55					0	0	1	0	0	G	93489432	A	G	93489432	3	3	81	1	0	0	0	0	1	0	0	0	3347	43	2	3	1405	3	CHD2	15	93489432	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	21827	93489432	9041960	11267	14883											
CHD2	1106	broad.mit.edu	37	15	93534732	93534732	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:93534732G>A	ENST00000394196.4	+	27	4508	c.3440G>A	c.(3439-3441)gGt>gAt	p.G1147D	CHD2_ENST00000557381.1_Missense_Mutation_p.G1147D	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	1147					regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			AAGAAGTTTGGTCTCCCTCTT	0.308													23	61					0	0	1	0	0	A	93534732	G	A	93534732	3	1	81	1	0	0	0	0	1	0	0	0	3347	1261	44	2	3546	2	CHD2	15	93534732	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	45300	93534732	8996660	11268	14884											
CHD2	1106	broad.mit.edu	37	15	93540498	93540498	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:93540498T>G	ENST00000394196.4	+	30	4818	c.3750T>G	c.(3748-3750)tgT>tgG	p.C1250W	CHD2_ENST00000557381.1_Missense_Mutation_p.C1250W	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	1250					regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			GCTTAACCTGTCGTGTCAAAG	0.403													4	84					0	0	1	0	0	G	93540498	T	G	93540498	3	3	81	1	0	0	0	0	1	0	0	0	3347	1673	58	5	3868	5	CHD2	15	93540498	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	5766	93540498	8990894	11269	14885											
CHD2	1106	broad.mit.edu	37	15	93541812	93541812	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:93541812G>T	ENST00000394196.4	+	31	5037	c.3969G>T	c.(3967-3969)aaG>aaT	p.K1323N	CHD2_ENST00000557381.1_Missense_Mutation_p.K1323N	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	1323					regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			TGCTCAGAAAGGGTCTGGAGA	0.532													6	123					0.00116845	0.00124301	1	1	0	T	93541812	G	T	93541812	3	4	81	1	0	0	0	0	1	0	0	0	3347	991	35	4	4091	4	CHD2	15	93541812	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1314	93541812	8989580	11270	14886											
RGMA	56963	broad.mit.edu	37	15	93588245	93588245	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:93588245G>T	ENST00000329082.7	-	4	1607	c.1336C>A	c.(1336-1338)Ctc>Atc	p.L446I	RGMA_ENST00000557420.1_3'UTR|RGMA_ENST00000425933.2_Missense_Mutation_p.L430I|RGMA_ENST00000538818.1_Missense_Mutation_p.L337I|RGMA_ENST00000542321.2_Missense_Mutation_p.L430I|RGMA_ENST00000557301.1_Missense_Mutation_p.L454I|RGMA_ENST00000556658.1_Missense_Mutation_p.L337I|RGMA_ENST00000543599.1_Missense_Mutation_p.L430I	NM_020211.2	NP_064596	Q96B86	RGMA_HUMAN	repulsive guidance molecule family member a	446					axon guidance	anchored to membrane|endoplasmic reticulum|plasma membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	9	Lung NSC(78;0.0542)|all_lung(78;0.0786)		BRCA - Breast invasive adenocarcinoma(143;0.0312)|OV - Ovarian serous cystadenocarcinoma(32;0.108)			AACACAGGGAGCAGGGCCAGG	0.721													3	2					0.115264	0.117126	1	1	0	T	93588245	G	T	93588245	3	4	81	1	0	0	0	0	1	0	0	0	13332	971	34	4	20	4	RGMA	15	93588245	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	46433	93588245	8943147	11271	14887											
RGMA	56963	broad.mit.edu	37	15	93595313	93595313	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:93595313G>A	ENST00000329082.7	-	3	826	c.555C>T	c.(553-555)ggC>ggT	p.G185G	RGMA_ENST00000556087.1_Silent_p.G169G|RGMA_ENST00000557420.1_Intron|RGMA_ENST00000425933.2_Silent_p.G169G|RGMA_ENST00000538818.1_Silent_p.G76G|RGMA_ENST00000542321.2_Silent_p.G169G|RGMA_ENST00000557301.1_Silent_p.G193G|RGMA_ENST00000556658.1_Silent_p.G76G|RGMA_ENST00000543599.1_Silent_p.G169G	NM_020211.2	NP_064596	Q96B86	RGMA_HUMAN	repulsive guidance molecule family member a	185					axon guidance	anchored to membrane|endoplasmic reticulum|plasma membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	9	Lung NSC(78;0.0542)|all_lung(78;0.0786)		BRCA - Breast invasive adenocarcinoma(143;0.0312)|OV - Ovarian serous cystadenocarcinoma(32;0.108)			GCGGCCAGGCGCCCTGCACCT	0.627													6	9					0	0	1	0	0	A	93595313	G	A	93595313	2	1	81	1	0	0	0	0	0	0	0	1	13332	1074	38	1		1	RGMA	15	93595313	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	7068	93595313	8936079	11272	14888											
MCTP2	55784	broad.mit.edu	37	15	94841867	94841867	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:94841867G>A	ENST00000357742.4	+	1	373	c.373G>A	c.(373-375)Gcc>Acc	p.A125T	MCTP2_ENST00000331706.4_5'UTR|MCTP2_ENST00000451018.3_Missense_Mutation_p.A125T|MCTP2_ENST00000543482.1_Missense_Mutation_p.A125T	NM_018349.3	NP_060819.3	Q6DN12	MCTP2_HUMAN	multiple C2 domains, transmembrane 2	125					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			GGAGGCCTATGCCTCTCCTGC	0.527													48	69					0	0	1	0	0	A	94841867	G	A	94841867	3	1	81	1	0	0	0	0	1	0	0	0	9451	1319	46	2	375	2	MCTP2	15	94841867	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1246554	94841867	7689525	11273	14889											
MCTP2	55784	broad.mit.edu	37	15	94942270	94942270	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:94942270G>A	ENST00000357742.4	+	14	1869	c.1869G>A	c.(1867-1869)gaG>gaA	p.E623E	MCTP2_ENST00000557742.1_Silent_p.E211E|MCTP2_ENST00000331706.4_Silent_p.E211E|MCTP2_ENST00000451018.3_Silent_p.E623E	NM_018349.3	NP_060819.3	Q6DN12	MCTP2_HUMAN	multiple C2 domains, transmembrane 2	623					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			TTTACTTAGAGATGGACCTTA	0.373													17	25					0	0	1	0	0	A	94942270	G	A	94942270	2	1	81	1	0	0	0	0	0	0	0	1	9451	933	33	2		2	MCTP2	15	94942270	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	100403	94942270	7589122	11274	14890											
NR2F2	7026	broad.mit.edu	37	15	96877635	96877635	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:96877635C>T	ENST00000394166.3	+	2	2162	c.773C>T	c.(772-774)gCg>gTg	p.A258V	NR2F2_ENST00000394171.2_Missense_Mutation_p.A105V|NR2F2_ENST00000453270.2_Missense_Mutation_p.A105V|NR2F2_ENST00000421109.2_Missense_Mutation_p.A125V	NM_021005.3	NP_066285.1	P24468	COT2_HUMAN	nuclear receptor subfamily 2, group F, member 2	258	Interaction with ZFPM2 (By similarity).|Ligand-binding (By similarity).				lipid metabolic process|negative regulation of cyclin-dependent protein kinase activity|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment	nucleus	ligand-regulated transcription factor activity|protein homodimerization activity|retinoic acid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription corepressor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(2)|lung(3)|ovary(2)|urinary_tract(1)	17	Lung NSC(78;0.0186)|Melanoma(26;0.0195)|all_lung(78;0.0297)		OV - Ovarian serous cystadenocarcinoma(32;0.0856)			TTGAATGCGGCGCAGTGCTCC	0.677													13	19					0	0	1	0	0	T	96877635	C	T	96877635	3	4	81	1	0	0	0	0	1	0	0	0	10676	768	27	1	826	1	NR2F2	15	96877635	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1935365	96877635	5653757	11275	14891											
ARRDC4	91947	broad.mit.edu	37	15	98514380	98514380	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:98514380A>G	ENST00000268042.6	+	8	1384	c.1220A>G	c.(1219-1221)gAc>gGc	p.D407G	ARRDC4_ENST00000538249.1_Missense_Mutation_p.D320G	NM_183376.2	NP_899232.2	Q8NCT1	ARRD4_HUMAN	arrestin domain containing 4	407					signal transduction					breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|skin(3)	16	Melanoma(26;0.00539)|Lung NSC(78;0.0125)|all_lung(78;0.0222)		OV - Ovarian serous cystadenocarcinoma(32;0.0417)			CATCCTAGCGACGTAGAAGAG	0.383													45	96					0	0	1	0	0	G	98514380	A	G	98514380	3	3	81	1	0	0	0	0	1	0	0	0	984	275	10	3	1250	3	ARRDC4	15	98514380	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	1636745	98514380	4017012	11276	14892											
IGF1R	3480	broad.mit.edu	37	15	99467760	99467760	+	Nonsense_Mutation	SNP	C	C	T	rs150221450		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:99467760C>T	ENST00000268035.6	+	13	3240	c.2629C>T	c.(2629-2631)Cga>Tga	p.R877*	IGF1R_ENST00000558762.1_Nonsense_Mutation_p.R877*	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	877	Fibronectin type-III 3.				anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)	CCAGGATCAGCGAGAATGTGT	0.517													58	101					0	0	1	0	0	T	99467760	C	T	99467760	4	4	81	1	0	0	0	0	0	1	0	0	7615	760	27	1	2679	1	IGF1R	15	99467760	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	953380	99467760	3063632	11277	14893											
SYNM	23336	broad.mit.edu	37	15	99670344	99670344	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:99670344G>A	ENST00000336292.6	+	5	1896	c.1776G>A	c.(1774-1776)ccG>ccA	p.P592P	SYNM_ENST00000560674.1_Silent_p.P307P|RP11-6O2.4_ENST00000566974.1_RNA|SYNM_ENST00000561323.1_3'UTR|SYNM_ENST00000328642.7_Silent_p.P592P	NM_145728.2	NP_663780.2	O15061	SYNEM_HUMAN	synemin, intermediate filament protein	593	Tail.				intermediate filament cytoskeleton organization	adherens junction|costamere|intermediate filament|neurofilament cytoskeleton	intermediate filament binding|structural constituent of cytoskeleton|structural constituent of muscle|vinculin binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(6)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	29						AGGTGTCCCCGAAAGGTTTGC	0.562													19	17					0	0	1	0	0	A	99670344	G	A	99670344	2	1	81	1	0	0	0	0	0	0	0	1	15512	1045	37	1		1	SYNM	15	99670344	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	202584	99670344	2861048	11278	14894											
SYNM	23336	broad.mit.edu	37	15	99671904	99671904	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:99671904G>T	ENST00000336292.6	+	5	3456	c.3336G>T	c.(3334-3336)caG>caT	p.Q1112H	SYNM_ENST00000560674.1_Missense_Mutation_p.Q827H|RP11-6O2.4_ENST00000566974.1_RNA|SYNM_ENST00000561323.1_3'UTR|SYNM_ENST00000328642.7_Missense_Mutation_p.Q1112H	NM_145728.2	NP_663780.2	O15061	SYNEM_HUMAN	synemin, intermediate filament protein	1113	Tail.				intermediate filament cytoskeleton organization	adherens junction|costamere|intermediate filament|neurofilament cytoskeleton	intermediate filament binding|structural constituent of cytoskeleton|structural constituent of muscle|vinculin binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(6)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	29						GCTTTGCCCAGTCACAGGTGC	0.622													3	9					0.004672	0.00489345	1	1	0	T	99671904	G	T	99671904	3	4	81	1	0	0	0	0	1	0	0	0	15512	1020	36	4	3352	4	SYNM	15	99671904	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1560	99671904	2859488	11279	14895											
SYNM	23336	broad.mit.edu	37	15	99672460	99672460	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:99672460G>A	ENST00000336292.6	+	5	4012	c.3892G>A	c.(3892-3894)Gaa>Aaa	p.E1298K	SYNM_ENST00000560674.1_Intron|SYNM_ENST00000561323.1_3'UTR|SYNM_ENST00000328642.7_Intron	NM_145728.2	NP_663780.2	O15061	SYNEM_HUMAN	synemin, intermediate filament protein	1299	Interaction with DMD and UTRN.|Interaction with TLN1 and VCL.|Tail.				intermediate filament cytoskeleton organization	adherens junction|costamere|intermediate filament|neurofilament cytoskeleton	intermediate filament binding|structural constituent of cytoskeleton|structural constituent of muscle|vinculin binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(6)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	29						TGTACACATGGAAGGGTTGCC	0.532													49	91					0	0	1	0	0	A	99672460	G	A	99672460	3	1	81	1	0	0	0	0	1	0	0	0	15512	1175	41	2	3908	2	SYNM	15	99672460	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	556	99672460	2858932	11280	14896											
SYNM	23336	broad.mit.edu	37	15	99672813	99672813	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:99672813C>T	ENST00000336292.6	+	5	4365	c.4245C>T	c.(4243-4245)caC>caT	p.H1415H	SYNM_ENST00000560674.1_Intron|SYNM_ENST00000561323.1_3'UTR|SYNM_ENST00000328642.7_Intron	NM_145728.2	NP_663780.2	O15061	SYNEM_HUMAN	synemin, intermediate filament protein	1416	Interaction with DMD and UTRN.|Interaction with TLN1 and VCL.|Tail.				intermediate filament cytoskeleton organization	adherens junction|costamere|intermediate filament|neurofilament cytoskeleton	intermediate filament binding|structural constituent of cytoskeleton|structural constituent of muscle|vinculin binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(6)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	29						CCTCTGAACACATTGCCATCC	0.522													86	127					0	0	1	0	0	T	99672813	C	T	99672813	2	4	81	1	0	0	0	0	0	0	0	1	15512	477	17	2		2	SYNM	15	99672813	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	353	99672813	2858579	11281	14897											
SYNM	23336	broad.mit.edu	37	15	99673044	99673044	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:99673044G>A	ENST00000336292.6	+	5	4596	c.4476G>A	c.(4474-4476)gcG>gcA	p.A1492A	SYNM_ENST00000560674.1_Silent_p.A895A|SYNM_ENST00000561323.1_3'UTR|SYNM_ENST00000328642.7_Silent_p.A1180A	NM_145728.2	NP_663780.2	O15061	SYNEM_HUMAN	synemin, intermediate filament protein	1493	Interaction with DMD and UTRN.|Tail.				intermediate filament cytoskeleton organization	adherens junction|costamere|intermediate filament|neurofilament cytoskeleton	intermediate filament binding|structural constituent of cytoskeleton|structural constituent of muscle|vinculin binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(6)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	29						GGAGAGACGCGGACAGTAGGA	0.577													5	129					0	0	1	0	0	A	99673044	G	A	99673044	2	1	81	1	0	0	0	0	0	0	0	1	15512	1103	39	1		1	SYNM	15	99673044	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	231	99673044	2858348	11282	14898											
TTC23	64927	broad.mit.edu	37	15	99678325	99678325	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:99678325T>C	ENST00000394132.2	-	14	2051	c.1234A>G	c.(1234-1236)Aag>Gag	p.K412E	TTC23_ENST00000262074.4_Missense_Mutation_p.K412E|TTC23_ENST00000394135.3_Missense_Mutation_p.K412E|TTC23_ENST00000394136.1_Missense_Mutation_p.K412E|TTC23_ENST00000558663.1_Missense_Mutation_p.K412E|TTC23_ENST00000558613.1_Missense_Mutation_p.K412E			Q5W5X9	TTC23_HUMAN	tetratricopeptide repeat domain 23	412							binding			endometrium(2)|large_intestine(3)|lung(9)|urinary_tract(2)	16	all_cancers(4;1.49e-13)|Lung NSC(78;0.000545)|all_lung(78;0.00121)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		all cancers(5;8.11e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00215)			GAAGCAACCTTGGGGGCCCTG	0.652													15	23					0	0	1	0	0	C	99678325	T	C	99678325	3	2	81	1	0	0	0	0	1	0	0	0	16752	1821	63	3	113	3	TTC23	15	99678325	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	5281	99678325	2853067	11283	14899											
TTC23	64927	broad.mit.edu	37	15	99696369	99696369	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:99696369C>T	ENST00000394132.2	-	12	1944	c.1127G>A	c.(1126-1128)cGc>cAc	p.R376H	TTC23_ENST00000262074.4_Missense_Mutation_p.R376H|TTC23_ENST00000394135.3_Missense_Mutation_p.R376H|TTC23_ENST00000394130.1_Missense_Mutation_p.R376H|TTC23_ENST00000394136.1_Missense_Mutation_p.R376H|TTC23_ENST00000558663.1_Missense_Mutation_p.R376H|TTC23_ENST00000558613.1_Missense_Mutation_p.R376H|TTC23_ENST00000394129.2_Missense_Mutation_p.R376H			Q5W5X9	TTC23_HUMAN	tetratricopeptide repeat domain 23	376							binding			endometrium(2)|large_intestine(3)|lung(9)|urinary_tract(2)	16	all_cancers(4;1.49e-13)|Lung NSC(78;0.000545)|all_lung(78;0.00121)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		all cancers(5;8.11e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00215)			CAGTTTCTTGCGGGCCCCACT	0.557													17	36					0	0	1	0	0	T	99696369	C	T	99696369	3	4	81	1	0	0	0	0	1	0	0	0	16752	768	27	1	228	1	TTC23	15	99696369	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	18044	99696369	2835023	11284	14900											
TTC23	64927	broad.mit.edu	37	15	99762037	99762037	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:99762037G>A	ENST00000394132.2	-	6	1030	c.213C>T	c.(211-213)tgC>tgT	p.C71C	TTC23_ENST00000262074.4_Silent_p.C71C|TTC23_ENST00000394135.3_Silent_p.C71C|TTC23_ENST00000394130.1_Silent_p.C71C|TTC23_ENST00000394136.1_Silent_p.C71C|TTC23_ENST00000558663.1_Silent_p.C71C|TTC23_ENST00000558613.1_Silent_p.C71C|TTC23_ENST00000394129.2_Silent_p.C71C			Q5W5X9	TTC23_HUMAN	tetratricopeptide repeat domain 23	71							binding			endometrium(2)|large_intestine(3)|lung(9)|urinary_tract(2)	16	all_cancers(4;1.49e-13)|Lung NSC(78;0.000545)|all_lung(78;0.00121)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		all cancers(5;8.11e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00215)			TCAGTGCTACGCAACGCACAA	0.448													17	22					0	0	1	0	0	A	99762037	G	A	99762037	2	1	81	1	0	0	0	0	0	0	0	1	16752	1079	38	1		1	TTC23	15	99762037	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	65668	99762037	2769355	11285	14901											
MEF2A	4205	broad.mit.edu	37	15	100173378	100173378	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:100173378G>T	ENST00000354410.5	+	3	683	c.54G>T	c.(52-54)caG>caT	p.Q18H	MEF2A_ENST00000453228.2_Splice_Site_p.Q18H|MEF2A_ENST00000338042.6_Splice_Site_p.Q18H|MEF2A_ENST00000558812.1_Splice_Site_p.Q18H|MEF2A_ENST00000557785.1_Splice_Site_p.Q18H|MEF2A_ENST00000449277.2_Splice_Site_p.Q18H|MEF2A_ENST00000558856.1_3'UTR|MEF2A_ENST00000557942.1_Splice_Site_p.Q18H	NM_005587.2	NP_005578.2	Q02078	MEF2A_HUMAN	myocyte enhancer factor 2A	18	Lys-rich (basic).|MADS-box.				apoptosis|BMK cascade|cardiac conduction|cellular response to calcium ion|dendrite morphogenesis|innate immune response|mitochondrial genome maintenance|mitochondrion distribution|muscle organ development|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|ventricular cardiac myofibril development	nuclear chromatin|nucleoplasm	activating transcription factor binding|histone acetyltransferase binding|histone deacetylase binding|protein heterodimerization activity|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|SMAD binding			endometrium(2)|large_intestine(2)|lung(7)|ovary(1)	12	Lung NSC(78;0.00335)|all_lung(78;0.00659)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		OV - Ovarian serous cystadenocarcinoma(32;0.00085)			GGAACCGACAGGTAAATGaaa	0.274													7	5					8.12818e-05	8.94031e-05	1	1	0	T	100173378	G	T	100173378	5	4	81	1	0	0	0	0	0	0	1	0	9505	1014	35	4	56	4	MEF2A	15	100173378	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	411341	100173378	2358014	11286	14902											
MEF2A	4205	broad.mit.edu	37	15	100185844	100185844	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:100185844C>T	ENST00000354410.5	+	4	762	c.133C>T	c.(133-135)Ctc>Ttc	p.L45F	MEF2A_ENST00000453228.2_Missense_Mutation_p.L45F|MEF2A_ENST00000338042.6_Missense_Mutation_p.L45F|MEF2A_ENST00000558812.1_Intron|MEF2A_ENST00000557785.1_Missense_Mutation_p.L45F|MEF2A_ENST00000449277.2_Intron|MEF2A_ENST00000558856.1_Intron|MEF2A_ENST00000557942.1_Missense_Mutation_p.L45F	NM_005587.2	NP_005578.2	Q02078	MEF2A_HUMAN	myocyte enhancer factor 2A	45	MADS-box.				apoptosis|BMK cascade|cardiac conduction|cellular response to calcium ion|dendrite morphogenesis|innate immune response|mitochondrial genome maintenance|mitochondrion distribution|muscle organ development|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|ventricular cardiac myofibril development	nuclear chromatin|nucleoplasm	activating transcription factor binding|histone acetyltransferase binding|histone deacetylase binding|protein heterodimerization activity|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|SMAD binding			endometrium(2)|large_intestine(2)|lung(7)|ovary(1)	12	Lung NSC(78;0.00335)|all_lung(78;0.00659)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		OV - Ovarian serous cystadenocarcinoma(32;0.00085)			TGAAATAGCACTCATCATTTT	0.328													23	53					0	0	1	0	0	T	100185844	C	T	100185844	3	4	81	1	0	0	0	0	1	0	0	0	9505	565	20	2	139	2	MEF2A	15	100185844	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	12466	100185844	2345548	11287	14903											
ADAMTS17	170691	broad.mit.edu	37	15	100802609	100802609	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:100802609C>A	ENST00000268070.4	-	5	926	c.821G>T	c.(820-822)gGg>gTg	p.G274V		NM_139057.2	NP_620688.2	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 17	274	Peptidase M12B.				proteolysis	intracellular|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)	50	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)		AATTTTAATCCCCAGGCTCTG	0.383													5	118					0.000602214	0.000646338	1	1	0	A	100802609	C	A	100802609	3	1	81	1	0	0	0	0	1	0	0	0	261	623	22	5	2538	5	ADAMTS17	15	100802609	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	616765	100802609	1728783	11288	14904											
ALDH1A3	220	broad.mit.edu	37	15	101425524	101425524	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:101425524C>T	ENST00000329841.5	+	2	684	c.152C>T	c.(151-153)aCa>aTa	p.T51I	ALDH1A3_ENST00000560555.1_3'UTR|RP11-66B24.8_ENST00000558568.1_lincRNA|ALDH1A3_ENST00000346623.6_Missense_Mutation_p.T51I	NM_000693.2	NP_000684.2	P47895	AL1A3_HUMAN	aldehyde dehydrogenase 1 family, member A3	51					retinal metabolic process	cytoplasm	aldehyde dehydrogenase|protein homodimerization activity			NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(7)|lung(9)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	27	Lung NSC(78;0.00144)|all_lung(78;0.0018)|Melanoma(26;0.00852)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103)		NADH(DB00157)|Vitamin A(DB00162)	AAGTTTGCTACATGTAACCCT	0.338													24	41					0	0	1	0	0	T	101425524	C	T	101425524	3	4	81	1	0	0	0	0	1	0	0	0	489	478	17	2	158	2	ALDH1A3	15	101425524	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	622915	101425524	1105868	11289	14905											
ALDH1A3	220	broad.mit.edu	37	15	101434238	101434238	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:101434238C>T	ENST00000329841.5	+	6	1149	c.617C>T	c.(616-618)gCg>gTg	p.A206V	RP11-66B24.4_ENST00000560351.1_RNA|ALDH1A3_ENST00000346623.6_Intron	NM_000693.2	NP_000684.2	P47895	AL1A3_HUMAN	aldehyde dehydrogenase 1 family, member A3	206					retinal metabolic process	cytoplasm	aldehyde dehydrogenase|protein homodimerization activity			NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(7)|lung(9)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	27	Lung NSC(78;0.00144)|all_lung(78;0.0018)|Melanoma(26;0.00852)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103)		NADH(DB00157)|Vitamin A(DB00162)	CTGAAGCCTGCGGAGCAGACA	0.547													7	133					0	0	1	0	0	T	101434238	C	T	101434238	3	4	81	1	0	0	0	0	1	0	0	0	489	768	27	1	639	1	ALDH1A3	15	101434238	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	8714	101434238	1097154	11290	14906											
LRRK1	79705	broad.mit.edu	37	15	101528954	101528954	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:101528954C>T	ENST00000284395.5	+	6	940	c.540C>T	c.(538-540)taC>taT	p.Y180Y	LRRK1_ENST00000532029.2_Silent_p.Y183Y|LRRK1_ENST00000388948.3_Silent_p.Y183Y			Q38SD2	LRRK1_HUMAN	leucine-rich repeat kinase 1	183					small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CGGAGAGCTACGCTGTCAGGA	0.617													20	34					0	0	1	0	0	T	101528954	C	T	101528954	2	4	81	1	0	0	0	0	0	0	0	1	9077	547	19	1		1	LRRK1	15	101528954	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	94716	101528954	1002438	11291	14907											
LRRK1	79705	broad.mit.edu	37	15	101566188	101566188	+	Missense_Mutation	SNP	G	G	A	rs141579296	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:101566188G>A	ENST00000284395.5	+	18	2642	c.2242G>A	c.(2242-2244)Gtg>Atg	p.V748M	LRRK1_ENST00000388948.3_Missense_Mutation_p.V751M			Q38SD2	LRRK1_HUMAN	leucine-rich repeat kinase 1	751	Roc.				small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CCCAAACGCCGTGGTGCTGGT	0.587													7	68					0	0	1	0	0	A	101566188	G	A	101566188	3	1	81	1	0	0	0	0	1	0	0	0	9077	1145	40	1	2313	1	LRRK1	15	101566188	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	37234	101566188	965204	11292	14908											
LRRK1	79705	broad.mit.edu	37	15	101601435	101601435	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:101601435C>A	ENST00000284395.5	+	31	5130	c.4730C>A	c.(4729-4731)cCt>cAt	p.P1577H	RP11-505E24.2_ENST00000559857.1_RNA|LRRK1_ENST00000388948.3_Missense_Mutation_p.P1580H			Q38SD2	LRRK1_HUMAN	leucine-rich repeat kinase 1	1580					small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			ATGTGCTGCCCTGGGATGAAG	0.617													4	29					0.184627	0.18622	1	1	0	A	101601435	C	A	101601435	3	1	81	1	0	0	0	0	1	0	0	0	9077	681	24	4	4853	4	LRRK1	15	101601435	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	35247	101601435	929957	11293	14909											
CHSY1	22856	broad.mit.edu	37	15	101717621	101717621	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:101717621T>G	ENST00000254190.3	-	3	2856	c.2381A>C	c.(2380-2382)aAt>aCt	p.N794T	CHSY1_ENST00000543813.1_5'UTR	NM_014918.4	NP_055733.2	Q86X52	CHSS1_HUMAN	chondroitin sulfate synthase 1	794					chondroitin sulfate biosynthetic process	Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(5)|skin(1)	24	Lung NSC(78;0.00217)|all_lung(78;0.00271)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			GCCATTATTATTGCTGCTTTT	0.388													18	37					0	0	1	0	0	G	101717621	T	G	101717621	3	3	81	1	0	0	0	0	1	0	0	0	3434	1493	52	4	31	4	CHSY1	15	101717621	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	116186	101717621	813771	11294	14910											
TM2D3	80213	broad.mit.edu	37	15	102186949	102186949	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:102186949G>A	ENST00000561373.1	-	2	842	c.286C>T	c.(286-288)Cgg>Tgg	p.R96W	TM2D3_ENST00000559107.1_Missense_Mutation_p.R161W|TM2D3_ENST00000347970.3_Missense_Mutation_p.R135W|TM2D3_ENST00000333202.3_Missense_Mutation_p.R161W|TM2D3_ENST00000428002.2_Missense_Mutation_p.R135W			Q9BRN9	TM2D3_HUMAN	TM2 domain containing 3	161						integral to membrane				central_nervous_system(1)|endometrium(2)|lung(6)|ovary(1)	10	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			ACGTGGTCCCGCACCGTGCAG	0.502													21	37					0	0	1	0	0	A	102186949	G	A	102186949	3	1	81	1	0	0	0	0	1	0	0	0	16025	1086	38	1	274	1	TM2D3	15	102186949	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	469328	102186949	344443	11295	14911											
OR4F6	390648	broad.mit.edu	37	15	102345968	102345968	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:102345968G>A	ENST00000328882.4	+	1	67	c.46G>A	c.(46-48)Gga>Aga	p.G16R		NM_001005326.1	NP_001005326.1	Q8NGB9	OR4F6_HUMAN	olfactory receptor, family 4, subfamily F, member 6	16					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(1)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)			TGTGTTCCTGGGACTCTCTGA	0.483													28	69					0	0	1	0	0	A	102345968	G	A	102345968	3	1	81	1	0	0	0	0	1	0	0	0	11114	1233	43	2	48	2	OR4F6	15	102345968	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	159019	102345968	185424	11296	14912											
RHBDF1	64285	broad.mit.edu	37	16	108627	108627	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:108627G>T	ENST00000262316.6	-	18	2422	c.2280C>A	c.(2278-2280)acC>acA	p.T760T		NM_022450.3	NP_071895.3	Q96CC6	RHDF1_HUMAN	rhomboid 5 homolog 1 (Drosophila)	760					cell migration|cell proliferation|negative regulation of protein secretion|protein transport|proteolysis|regulation of epidermal growth factor receptor signaling pathway|regulation of proteasomal protein catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	growth factor binding|serine-type endopeptidase activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	18		all_cancers(16;2.56e-05)|all_epithelial(16;0.000116)|Hepatocellular(780;0.0068)|Lung NSC(18;0.0795)|all_lung(18;0.159)				GCAGCCCAAAGGTGAAGAGGA	0.587													8	61					1.06961e-07	1.25755e-07	1	1	0	T	108627	G	T	108627	2	4	81	1	0	0	0	0	0	0	0	1	13369	987	35	4		4	RHBDF1	16	108627	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08		108627	90246126	11297	14913											
RHBDF1	64285	broad.mit.edu	37	16	111407	111407	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:111407C>A	ENST00000262316.6	-	10	1513	c.1371G>T	c.(1369-1371)gaG>gaT	p.E457D	RHBDF1_ENST00000454039.2_Missense_Mutation_p.E457D	NM_022450.3	NP_071895.3	Q96CC6	RHDF1_HUMAN	rhomboid 5 homolog 1 (Drosophila)	457					cell migration|cell proliferation|negative regulation of protein secretion|protein transport|proteolysis|regulation of epidermal growth factor receptor signaling pathway|regulation of proteasomal protein catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	growth factor binding|serine-type endopeptidase activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	18		all_cancers(16;2.56e-05)|all_epithelial(16;0.000116)|Hepatocellular(780;0.0068)|Lung NSC(18;0.0795)|all_lung(18;0.159)				TCCAGAAGTTCTCCTGCTGCA	0.731													6	18					0.0215528	0.0221217	1	1	0	A	111407	C	A	111407	3	1	81	1	0	0	0	0	1	0	0	0	13369	912	32	4	1232	4	RHBDF1	16	111407	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2780	111407	90243346	11298	14914											
MPG	4350	broad.mit.edu	37	16	133123	133123	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:133123C>T	ENST00000219431.4	+	4	619	c.388C>T	c.(388-390)Cca>Tca	p.P130S	MPG_ENST00000397817.1_Missense_Mutation_p.P113S	NM_002434.3	NP_002425.2	P29372	3MG_HUMAN	N-methylpurine-DNA glycosylase	130					depurination|DNA dealkylation involved in DNA repair	nucleoplasm	alkylbase DNA N-glycosylase activity|damaged DNA binding|identical protein binding			endometrium(4)|kidney(1)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9		all_cancers(16;9.01e-08)|all_epithelial(16;7.64e-07)|Hepatocellular(780;0.000325)|Lung NSC(18;0.0104)|all_lung(18;0.0239)				ATACCTGGGGCCAGAGGATGA	0.622								Base excision repair (BER), DNA glycosylases					82	113					0	0	1	0	0	T	133123	C	T	133123	3	4	81	1	0	0	0	0	1	0	0	0	9773	739	26	2	426	2	MPG	16	133123	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	21716	133123	90221630	11299	14915											
HBA2	3040	broad.mit.edu	37	16	223532	223532	+	Missense_Mutation	SNP	C	C	T	rs36075744		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:223532C>T	ENST00000251595.6	+	3	428	c.362C>T	c.(361-363)gCg>gTg	p.A121V	HBA2_ENST00000397806.1_Missense_Mutation_p.A89V	NM_000517.4	NP_000508.1	P69905	HBA_HUMAN	hemoglobin, alpha 2	121			A -> E (in J-Meerut/J-Birmingham).		hydrogen peroxide catabolic process|positive regulation of cell death|protein heterooligomerization	cytosolic small ribosomal subunit|haptoglobin-hemoglobin complex|hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity|protein binding						all_cancers(16;2.03e-06)|all_epithelial(16;5.16e-06)|Hepatocellular(16;0.000325)|Lung NSC(18;0.0138)|all_lung(18;0.0306)			Amodiaquine(DB00613)|Chloroquine(DB00608)|Iron Dextran(DB00893)|Mefloquine(DB00358)|Primaquine(DB01087)|Quinine(DB00468)	TTCACCCCTGCGGTGCACGCC	0.662											OREG0003686	type=REGULATORY REGION|Gene=SERPINB9|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	4	22					0	0	1	0	0	T	223532	C	T	223532	3	4	81	1	0	0	0	0	1	0	0	0	7018	768	27	1	372	1	HBA2	16	223532	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	90409	223532	90131221	11300	14916											
RGS11	8786	broad.mit.edu	37	16	320571	320571	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:320571C>T	ENST00000397770.3	-	15	1174	c.1157G>A	c.(1156-1158)cGc>cAc	p.R386H	ARHGDIG_ENST00000464609.1_Intron|RGS11_ENST00000316163.5_Missense_Mutation_p.R365H|RGS11_ENST00000359740.5_Missense_Mutation_p.R375H			O94810	RGS11_HUMAN	regulator of G-protein signaling 11	386	RGS.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			endometrium(1)|kidney(1)|lung(4)|ovary(1)|pancreas(1)	8		all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186)				CAGGACATAGCGGTGGGGCTG	0.667													5	5					0	0	1	0	0	T	320571	C	T	320571	3	4	81	1	0	0	0	0	1	0	0	0	13344	768	27	1	258	1	RGS11	16	320571	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	97039	320571	90034182	11301	14917											
AXIN1	8312	broad.mit.edu	37	16	343713	343713	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:343713G>A	ENST00000262320.3	-	8	2332	c.1961C>T	c.(1960-1962)tCg>tTg	p.S654L	AXIN1_ENST00000354866.3_Missense_Mutation_p.S654L	NM_003502.3	NP_003493.1	O15169	AXIN1_HUMAN	axin 1	654	Interaction with PPP2CA.|Interaction with RNF111.				activation of JUN kinase activity|activation of protein kinase activity|apoptosis|axial mesoderm formation|canonical Wnt receptor signaling pathway involved in neural plate anterior/posterior pattern formation|cellular protein complex assembly|cellular response to organic cyclic compound|cytoplasmic microtubule organization|determination of left/right symmetry|dorsal/ventral axis specification|embryonic eye morphogenesis|embryonic skeletal joint morphogenesis|forebrain anterior/posterior pattern formation|muscle cell development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|olfactory placode formation|optic placode formation|positive regulation of JNK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity|regulation of catenin import into nucleus|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway involved in somitogenesis	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|cell cortex|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|cytosol|lateral plasma membrane|nucleus|perinuclear region of cytoplasm|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|I-SMAD binding|p53 binding|protein complex scaffold|protein homodimerization activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding			biliary_tract(27)|breast(4)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(20)|liver(81)|lung(5)|ovary(2)|prostate(3)|salivary_gland(7)|skin(5)|stomach(4)|thyroid(41)|upper_aerodigestive_tract(4)|urinary_tract(2)	221		all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187)				CCTCGTCCCCGAAGACCTTGG	0.637													48	53					0	0	1	0	0	A	343713	G	A	343713	3	1	81	1	0	0	0	0	1	0	0	0	1234	1059	37	1	643	1	AXIN1	16	343713	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	23142	343713	90011040	11302	14918											
TMEM8A	58986	broad.mit.edu	37	16	426671	426671	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:426671G>A	ENST00000431232.2	-	5	937	c.777C>T	c.(775-777)acC>acT	p.T259T	TMEM8A_ENST00000250930.3_Silent_p.T66T	NM_021259.2	NP_067082.2	Q9HCN3	TMM8A_HUMAN	transmembrane protein 8A	259					cell adhesion	integral to plasma membrane				central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	14						AGGGGGCACCGGTGCAGGTGA	0.706													7	3					0	0	1	0	0	A	426671	G	A	426671	2	1	81	1	0	0	0	0	0	0	0	1	16274	1103	39	1		1	TMEM8A	16	426671	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	82958	426671	89928082	11303	14919											
TMEM8A	58986	broad.mit.edu	37	16	427115	427115	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:427115G>A	ENST00000431232.2	-	4	717	c.557C>T	c.(556-558)aCg>aTg	p.T186M	TMEM8A_ENST00000250930.3_De_novo_Start_InFrame|TMEM8A_ENST00000476735.1_5'UTR	NM_021259.2	NP_067082.2	Q9HCN3	TMM8A_HUMAN	transmembrane protein 8A	186					cell adhesion	integral to plasma membrane				central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	14						GACCACCCGCGTGACCAGCAG	0.637											OREG0003703	type=REGULATORY REGION|Gene=TMEM8|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	28	34					0	0	1	0	0	A	427115	G	A	427115	3	1	81	1	0	0	0	0	1	0	0	0	16274	1145	40	1	1798	1	TMEM8A	16	427115	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	444	427115	89927638	11304	14920											
DECR2	26063	broad.mit.edu	37	16	455024	455024	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:455024G>A	ENST00000219481.5	+	2	287	c.149G>A	c.(148-150)cGg>cAg	p.R50Q	DECR2_ENST00000397710.1_Splice_Site_p.R50Q|DECR2_ENST00000424398.2_Splice_Site_p.R50Q	NM_020664.3	NP_065715.1	Q9NUI1	DECR2_HUMAN	2,4-dienoyl CoA reductase 2, peroxisomal	50						peroxisome	2,4-dienoyl-CoA reductase (NADPH) activity|binding			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)	9		Hepatocellular(16;0.00015)				ATTTTCATGCGGTGAGACTGC	0.552													36	75					0	0	1	0	0	A	455024	G	A	455024	5	1	81	1	0	0	0	0	0	0	1	0	4406	1130	39	1	155	1	DECR2	16	455024	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	27909	455024	89899729	11305	14921											
DECR2	26063	broad.mit.edu	37	16	461021	461021	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:461021C>T	ENST00000219481.5	+	7	744	c.606C>T	c.(604-606)cgC>cgT	p.R202R	DECR2_ENST00000461947.1_3'UTR|DECR2_ENST00000424398.2_Silent_p.R190R	NM_020664.3	NP_065715.1	Q9NUI1	DECR2_HUMAN	2,4-dienoyl CoA reductase 2, peroxisomal	202						peroxisome	2,4-dienoyl-CoA reductase (NADPH) activity|binding			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)	9		Hepatocellular(16;0.00015)				AAAACATCCGCGTCAACAGCC	0.642													3	5					0	0	1	0	0	T	461021	C	T	461021	2	4	81	1	0	0	0	0	0	0	0	1	4406	755	27	1		1	DECR2	16	461021	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	5997	461021	89893732	11306	14922											
RAB11FIP3	9727	broad.mit.edu	37	16	560783	560783	+	Silent	SNP	C	C	T	rs143343068		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:560783C>T	ENST00000262305.4	+	9	2011	c.1623C>T	c.(1621-1623)atC>atT	p.I541I	RAB11FIP3_ENST00000450428.1_Silent_p.I245I|RAB11FIP3_ENST00000457159.1_Silent_p.I586I	NM_014700.3	NP_055515.1	O75154	RFIP3_HUMAN	RAB11 family interacting protein 3 (class II)	541	ARF-binding domain (ABD).				cell cycle|cytokinesis|endocytic recycling|protein transport	centrosome|cleavage furrow|midbody|recycling endosome membrane	ADP-ribosylation factor binding|calcium ion binding|protein homodimerization activity|Rab GTPase binding			breast(1)|endometrium(2)|kidney(3)|lung(5)|upper_aerodigestive_tract(1)	12		Hepatocellular(16;0.0218)				GCATTGAGATCGAGAACCTGC	0.612													9	12					0	0	1	0	0	T	560783	C	T	560783	2	4	81	1	0	0	0	0	0	0	0	1	12947	874	31	1		1	RAB11FIP3	16	560783	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	99762	560783	89793970	11307	14923											
RAB11FIP3	9727	broad.mit.edu	37	16	570584	570584	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:570584C>T	ENST00000262305.4	+	13	2530	c.2142C>T	c.(2140-2142)tcC>tcT	p.S714S	RAB11FIP3_ENST00000450428.1_Silent_p.S418S|RAB11FIP3_ENST00000457159.1_Silent_p.S759S	NM_014700.3	NP_055515.1	O75154	RFIP3_HUMAN	RAB11 family interacting protein 3 (class II)	714	FIP-RBD.				cell cycle|cytokinesis|endocytic recycling|protein transport	centrosome|cleavage furrow|midbody|recycling endosome membrane	ADP-ribosylation factor binding|calcium ion binding|protein homodimerization activity|Rab GTPase binding			breast(1)|endometrium(2)|kidney(3)|lung(5)|upper_aerodigestive_tract(1)	12		Hepatocellular(16;0.0218)				AGATCAGCTCCGTCTCCCGAG	0.597													50	56					0	0	1	0	0	T	570584	C	T	570584	2	4	81	1	0	0	0	0	0	0	0	1	12947	639	23	1		1	RAB11FIP3	16	570584	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	9801	570584	89784169	11308	14924											
PIGQ	9091	broad.mit.edu	37	16	624613	624613	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:624613G>A	ENST00000321878.5	+	2	698	c.539G>A	c.(538-540)cGc>cAc	p.R180H	PIGQ_ENST00000409527.2_Missense_Mutation_p.R180H|PIGQ_ENST00000026218.5_Missense_Mutation_p.R180H|PIGQ_ENST00000470411.2_Missense_Mutation_p.R180H	NM_004204.3	NP_004195.2	Q9BRB3	PIGQ_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class Q	180					C-terminal protein lipidation|carbohydrate metabolic process|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(780;0.00335)				CGCAGTGACCGCTTTGATGAG	0.701													3	11					0	0	1	0	0	A	624613	G	A	624613	3	1	81	1	0	0	0	0	1	0	0	0	11944	1087	38	1	541	1	PIGQ	16	624613	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	54029	624613	89730140	11309	14925											
PIGQ	9091	broad.mit.edu	37	16	633101	633101	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:633101C>A	ENST00000026218.5	+	10	1838	c.1750C>A	c.(1750-1752)Cac>Aac	p.H584N	PIGQ_ENST00000321878.5_3'UTR	NM_148920.2	NP_683721.1	Q9BRB3	PIGQ_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class Q	584					C-terminal protein lipidation|carbohydrate metabolic process|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(780;0.00335)				GCCAGGGTGGCACCAGCTCAG	0.637													6	91					8.12818e-05	8.94031e-05	1	1	0	A	633101	C	A	633101	3	1	81	1	0	0	0	0	1	0	0	0	11944	710	25	5	1850	5	PIGQ	16	633101	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	8488	633101	89721652	11310	14926											
PIGQ	9091	broad.mit.edu	37	16	633214	633214	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:633214G>A	ENST00000026218.5	+	10	1951	c.1863G>A	c.(1861-1863)atG>atA	p.M621I	PIGQ_ENST00000321878.5_3'UTR	NM_148920.2	NP_683721.1	Q9BRB3	PIGQ_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class Q	621					C-terminal protein lipidation|carbohydrate metabolic process|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(780;0.00335)				GTGAGCAGATGTGGGGGTGGC	0.642													54	146					0	0	1	0	0	A	633214	G	A	633214	3	1	81	1	0	0	0	0	1	0	0	0	11944	1377	48	2	1963	2	PIGQ	16	633214	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	113	633214	89721539	11311	14927											
WDR90	197335	broad.mit.edu	37	16	716482	716482	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:716482G>T	ENST00000549091.1	+	38	4866	c.4774G>T	c.(4774-4776)Gac>Tac	p.D1592Y	WDR90_ENST00000293879.4_Missense_Mutation_p.D1590Y|WDR90_ENST00000547944.1_Missense_Mutation_p.D189Y|WDR90_ENST00000315764.4_Intron|WDR90_ENST00000547543.1_3'UTR	NM_145294.4	NP_660337.3	Q96KV7	WDR90_HUMAN	WD repeat domain 90	1590										endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				GGAGGGCACAGACCTATGGCT	0.632													19	28					1.40151e-16	1.80007e-16	1	1	0	T	716482	G	T	716482	3	4	81	1	0	0	0	0	1	0	0	0	17397	942	33	4	4918	4	WDR90	16	716482	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	83268	716482	89638271	11312	14928											
RHOT2	89941	broad.mit.edu	37	16	721185	721185	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:721185C>T	ENST00000315082.4	+	11	965	c.851C>T	c.(850-852)gCg>gTg	p.A284V		NM_138769.2	NP_620124.1	Q8IXI1	MIRO2_HUMAN	ras homolog family member T2	284					apoptosis|cellular homeostasis|mitochondrion transport along microtubule|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to mitochondrial outer membrane|plasma membrane	calcium ion binding|GTP binding|GTPase activity|protein binding			endometrium(2)|kidney(3)|lung(4)|ovary(1)|pancreas(2)|prostate(1)	13		Hepatocellular(780;0.0218)				GAGCTGACTGCGGACTATCTC	0.637													37	35					0	0	1	0	0	T	721185	C	T	721185	3	4	81	1	0	0	0	0	1	0	0	0	13394	768	27	1	893	1	RHOT2	16	721185	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	4703	721185	89633568	11313	14929											
RHBDL1	9028	broad.mit.edu	37	16	727827	727827	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:727827G>A	ENST00000219551.2	+	7	1119	c.1092G>A	c.(1090-1092)ccG>ccA	p.P364P	RHBDL1_ENST00000352681.3_Silent_p.P299P			O75783	RHBL1_HUMAN	rhomboid, veinlet-like 1 (Drosophila)	364					proteolysis|signal transduction	integral to plasma membrane|membrane fraction	calcium ion binding|serine-type endopeptidase activity			endometrium(1)|kidney(1)|lung(4)|urinary_tract(3)	9		Hepatocellular(780;0.0218)				TCTCCCCGCCGCTGCCCGCCT	0.736													3	6					0	0	1	0	0	A	727827	G	A	727827	2	1	81	1	0	0	0	0	0	0	0	1	13371	1074	38	1		1	RHBDL1	16	727827	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	6642	727827	89626926	11314	14930											
STUB1	10273	broad.mit.edu	37	16	732441	732441	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:732441G>T	ENST00000565677.1	+	7	1255	c.648G>T	c.(646-648)gaG>gaT	p.E216D	STUB1_ENST00000564370.1_Missense_Mutation_p.E216D|STUB1_ENST00000219548.4_Missense_Mutation_p.E288D|JMJD8_ENST00000454700.1_3'UTR|JMJD8_ENST00000412368.2_3'UTR|JMJD8_ENST00000609261.1_3'UTR|JMJD8_ENST00000293882.4_3'UTR			Q9UNE7	CHIP_HUMAN	STIP1 homology and U-box containing protein 1, E3 ubiquitin protein ligase	288					cellular response to misfolded protein|DNA repair|misfolded or incompletely synthesized protein catabolic process|positive regulation of cellular chaperone-mediated protein complex assembly|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process|protein autoubiquitination|protein K63-linked ubiquitination|protein maturation|regulation of glucocorticoid metabolic process|ubiquitin-dependent SMAD protein catabolic process	cytoplasm|nuclear inclusion body|ubiquitin conjugating enzyme complex|ubiquitin ligase complex	Hsp70 protein binding|Hsp90 protein binding|kinase binding|misfolded protein binding|protein binding, bridging|protein homodimerization activity|SMAD binding|TPR domain binding|ubiquitin-ubiquitin ligase activity			endometrium(2)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	6		Hepatocellular(780;0.00335)				CTATGAAGGAGGTTATTGACG	0.597													8	75					1.12685e-05	1.27052e-05	1	1	0	T	732441	G	T	732441	3	4	81	1	0	0	0	0	1	0	0	0	15391	991	35	4	890	4	STUB1	16	732441	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	4614	732441	89622312	11315	14931											
WDR24	84219	broad.mit.edu	37	16	737585	737585	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:737585G>A	ENST00000293883.4	-	2	1395	c.636C>T	c.(634-636)tgC>tgT	p.C212C	WDR24_ENST00000248142.6_Silent_p.C342C	NM_032259.2	NP_115635.1	Q96S15	WDR24_HUMAN	WD repeat domain 24	298										breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(3)	19		Hepatocellular(780;0.0218)				GCCAGTCGCAGCAGAAGACGG	0.617													14	13					0	0	1	0	0	A	737585	G	A	737585	2	1	81	1	0	0	0	0	0	0	0	1	17341	963	34	2		2	WDR24	16	737585	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	5144	737585	89617168	11316	14932											
CCDC78	124093	broad.mit.edu	37	16	774778	774778	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:774778C>T	ENST00000293889.6	-	8	773	c.668G>A	c.(667-669)cGt>cAt	p.R223H		NM_001031737.2	NP_001026907.2	A2IDD5	CCD78_HUMAN	coiled-coil domain containing 78	223										central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|lung(2)|skin(3)	9		Hepatocellular(780;0.0218)				CTCTGCCTGACGGAGCTGGCC	0.647													6	15					0	0	1	0	0	T	774778	C	T	774778	3	4	81	1	0	0	0	0	1	0	0	0	2872	536	19	1	676	1	CCDC78	16	774778	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	37193	774778	89579975	11317	14933											
MSLN	10232	broad.mit.edu	37	16	812739	812739	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:812739G>T	ENST00000566549.1	+	2	476	c.59G>T	c.(58-60)aGc>aTc	p.S20I	MSLN_ENST00000545450.2_Missense_Mutation_p.S20I|MSLN_ENST00000382862.3_Missense_Mutation_p.S20I|MSLN_ENST00000563941.1_Missense_Mutation_p.S20I			Q13421	MSLN_HUMAN	mesothelin	20					cell adhesion	anchored to membrane|extracellular region|Golgi apparatus|plasma membrane				breast(2)|kidney(2)|lung(11)|pancreas(1)|prostate(1)|skin(3)	20		Hepatocellular(780;0.00335)				GCCCTCGGCAGCCTCCTGTTC	0.687													47	72					1.67211e-32	2.23359e-32	1	1	0	T	812739	G	T	812739	3	4	81	1	0	0	0	0	1	0	0	0	9929	971	34	4	61	4	MSLN	16	812739	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	37961	812739	89542014	11318	14934											
MSLNL	401827	broad.mit.edu	37	16	830489	830489	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:830489C>T	ENST00000293892.3	-	3	511	c.512G>A	c.(511-513)cGc>cAc	p.R171H	MSLNL_ENST00000442466.1_Intron			Q96KJ4	MSLNL_HUMAN	mesothelin-like	0					cell adhesion	integral to membrane		p.R171H(1)		breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	36						TGGATGCGTGCGGGCACGCAT	0.552													61	60					0	0	1	0	0	T	830489	C	T	830489	3	4	81	1	0	0	0	0	1	0	0	0	9930	768	27	1	2705	1	MSLNL	16	830489	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	17750	830489	89524264	11319	14935											
CHTF18	63922	broad.mit.edu	37	16	846736	846736	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:846736C>T	ENST00000317063.6	+	21	3103	c.3103C>T	c.(3103-3105)Cgc>Tgc	p.R1035C	CHTF18_ENST00000262315.9_Missense_Mutation_p.R826C|CHTF18_ENST00000455171.2_Missense_Mutation_p.R854C			Q8WVB6	CTF18_HUMAN	CTF18, chromosome transmission fidelity factor 18 homolog (S. cerevisiae)	826					cell cycle|DNA replication	nucleus	ATP binding|DNA binding|nucleoside-triphosphatase activity			endometrium(1)|kidney(3)|liver(2)|lung(4)|prostate(1)	11		Hepatocellular(780;0.00335)				GGAACTCTGCCGCTTCCCTGA	0.682													4	20					0	0	1	0	0	T	846736	C	T	846736	3	4	81	1	0	0	0	0	1	0	0	0	3436	652	23	1	2550	1	CHTF18	16	846736	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	16247	846736	89508017	11320	14936											
CHTF18	63922	broad.mit.edu	37	16	846797	846797	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:846797G>A	ENST00000317063.6	+	21	3164	c.3164G>A	c.(3163-3165)cGc>cAc	p.R1055H	CHTF18_ENST00000262315.9_Missense_Mutation_p.R846H|CHTF18_ENST00000455171.2_Missense_Mutation_p.R874H			Q8WVB6	CTF18_HUMAN	CTF18, chromosome transmission fidelity factor 18 homolog (S. cerevisiae)	846					cell cycle|DNA replication	nucleus	ATP binding|DNA binding|nucleoside-triphosphatase activity			endometrium(1)|kidney(3)|liver(2)|lung(4)|prostate(1)	11		Hepatocellular(780;0.00335)				CTCATCGCCCGCGAGATCGAG	0.657													4	34					0	0	1	0	0	A	846797	G	A	846797	3	1	81	1	0	0	0	0	1	0	0	0	3436	1087	38	1	2611	1	CHTF18	16	846797	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	61	846797	89507956	11321	14937											
LMF1	64788	broad.mit.edu	37	16	921309	921309	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:921309G>A	ENST00000262301.11	-	7	948	c.930C>T	c.(928-930)ttC>ttT	p.F310F	LMF1_ENST00000399843.2_Silent_p.F310F|LMF1_ENST00000543238.1_Silent_p.F73F|LMF1_ENST00000568268.1_5'UTR|LMF1_ENST00000568897.1_Silent_p.F93F	NM_022773.2	NP_073610.2	Q96S06	LMF1_HUMAN	lipase maturation factor 1	310						endoplasmic reticulum membrane|integral to membrane				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	18		Hepatocellular(780;0.00308)				GCCAGTTCAGGAAGCTGAGGT	0.652													3	14					0	0	1	0	0	A	921309	G	A	921309	2	1	81	1	0	0	0	0	0	0	0	1	8886	1165	41	2		2	LMF1	16	921309	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	74512	921309	89433444	11322	14938											
CACNA1H	8912	broad.mit.edu	37	16	1250550	1250550	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:1250550C>T	ENST00000348261.5	+	7	1346	c.1098C>T	c.(1096-1098)taC>taT	p.Y366Y	CACNA1H_ENST00000358590.4_Silent_p.Y366Y|CACNA1H_ENST00000565831.1_Silent_p.Y366Y	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	366					aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	ACATCGGCTACGCCTGGATTG	0.647													19	11					0	0	1	0	0	T	1250550	C	T	1250550	2	4	81	1	0	0	0	0	0	0	0	1	2563	547	19	1		1	CACNA1H	16	1250550	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	329241	1250550	89104203	11323	14939											
CACNA1H	8912	broad.mit.edu	37	16	1260937	1260937	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:1260937G>A	ENST00000348261.5	+	21	4437	c.4189G>A	c.(4189-4191)Gtg>Atg	p.V1397M	CACNA1H_ENST00000358590.4_Missense_Mutation_p.V1397M|CACNA1H_ENST00000565831.1_Missense_Mutation_p.V1397M	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	1397					aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	TGTTCTGCGCGTGCTGCGTCT	0.682													50	58					0	0	1	0	0	A	1260937	G	A	1260937	3	1	81	1	0	0	0	0	1	0	0	0	2563	1145	40	1	4267	1	CACNA1H	16	1260937	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	10387	1260937	89093816	11324	14940											
CACNA1H	8912	broad.mit.edu	37	16	1262039	1262039	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:1262039G>A	ENST00000348261.5	+	25	4908	c.4660G>A	c.(4660-4662)Gtg>Atg	p.V1554M	CACNA1H_ENST00000358590.4_Missense_Mutation_p.V1554M|CACNA1H_ENST00000565831.1_Missense_Mutation_p.V1554M	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	1554					aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity	p.V1554L(4)		breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	CGTGGGCGTCGTGGTCGAGAA	0.632													67	80					0	0	1	0	0	A	1262039	G	A	1262039	3	1	81	1	0	0	0	0	1	0	0	0	2563	1145	40	1	4754	1	CACNA1H	16	1262039	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1102	1262039	89092714	11325	14941											
CACNA1H	8912	broad.mit.edu	37	16	1266973	1266973	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:1266973C>A	ENST00000348261.5	+	31	5534	c.5286C>A	c.(5284-5286)atC>atA	p.I1762I	CACNA1H_ENST00000358590.4_Silent_p.I1756I|CACNA1H_ENST00000565831.1_Silent_p.I1756I	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	1762					aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	TGTTTTTTATCTATGCTGCGC	0.632													5	6					0.0293803	0.0300537	1	1	0	A	1266973	C	A	1266973	2	1	81	1	0	0	0	0	0	0	0	1	2563	903	32	4		4	CACNA1H	16	1266973	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	4934	1266973	89087780	11326	14942											
UBE2I	7329	broad.mit.edu	37	16	1370528	1370528	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:1370528A>G	ENST00000402301.1	+	5	459	c.423A>G	c.(421-423)gcA>gcG	p.A141A	LA16c-358B7.3_ENST00000568106.1_RNA|UBE2I_ENST00000397514.3_Intron|UBE2I_ENST00000355803.4_Intron|UBE2I_ENST00000397515.2_Intron|UBE2I_ENST00000566587.1_Intron|UBE2I_ENST00000406620.1_Intron|LA16c-358B7.3_ENST00000567829.1_RNA|UBE2I_ENST00000325437.5_Intron|UBE2I_ENST00000403747.2_Intron			P63279	UBC9_HUMAN	ubiquitin-conjugating enzyme E2I	0					cell division|chromosome segregation|interspecies interaction between organisms|mitosis|negative regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|protein sumoylation	cytoplasm|PML body|synaptonemal complex	ATP binding|enzyme binding|ubiquitin-protein ligase activity			breast(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(1)	5		Hepatocellular(780;0.00369)				GGTTAGTAGCAGCCCTGGCCC	0.582													11	17					0	0	1	0	0	G	1370528	A	G	1370528	2	3	81	1	0	0	0	0	0	0	0	1	16920	203	7	3		3	UBE2I	16	1370528	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	103555	1370528	88984225	11327	14943											
BAIAP3	8938	broad.mit.edu	37	16	1397954	1397954	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:1397954C>T	ENST00000324385.5	+	32	3348	c.3190C>T	c.(3190-3192)Cgc>Tgc	p.R1064C	BAIAP3_ENST00000421665.2_Missense_Mutation_p.R993C|BAIAP3_ENST00000568887.1_Missense_Mutation_p.R1001C|BAIAP3_ENST00000397488.2_Missense_Mutation_p.R1046C|BAIAP3_ENST00000397489.1_Missense_Mutation_p.R1046C|BAIAP3_ENST00000562208.1_Missense_Mutation_p.R1006C|BAIAP3_ENST00000426824.3_Missense_Mutation_p.R1029C	NM_003933.4	NP_003924.2	O94812	BAIP3_HUMAN	BAI1-associated protein 3	1064	C2 2.				G-protein coupled receptor protein signaling pathway|neurotransmitter secretion		protein C-terminus binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(25)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42		Hepatocellular(780;0.0893)				TCCACTGGTCCGCAGCCAGAG	0.627													9	117					0	0	1	0	0	T	1397954	C	T	1397954	3	4	81	1	0	0	0	0	1	0	0	0	1302	652	23	1	3316	1	BAIAP3	16	1397954	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	27426	1397954	88956799	11328	14944											
GNPTG	84572	broad.mit.edu	37	16	1411752	1411752	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:1411752C>T	ENST00000204679.4	+	4	230	c.187C>T	c.(187-189)Cat>Tat	p.H63Y		NM_032520.4	NP_115909.1	Q9UJJ9	GNPTG_HUMAN	N-acetylglucosamine-1-phosphate transferase, gamma subunit	63						extracellular region|Golgi apparatus	protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	7		Hepatocellular(780;0.0893)				AGGACCCGTGCATCTCTTCCG	0.602													16	15					0	0	1	0	0	T	1411752	C	T	1411752	3	4	81	1	0	0	0	0	1	0	0	0	6588	710	25	2	201	2	GNPTG	16	1411752	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	13798	1411752	88943001	11329	14945											
GNPTG	84572	broad.mit.edu	37	16	1412896	1412896	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:1412896C>T	ENST00000204679.4	+	10	855	c.812C>T	c.(811-813)aCg>aTg	p.T271M		NM_032520.4	NP_115909.1	Q9UJJ9	GNPTG_HUMAN	N-acetylglucosamine-1-phosphate transferase, gamma subunit	271						extracellular region|Golgi apparatus	protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	7		Hepatocellular(780;0.0893)				ATCCCCTACACGAGGCCCACA	0.552													32	43					0	0	1	0	0	T	1412896	C	T	1412896	3	4	81	1	0	0	0	0	1	0	0	0	6588	536	19	1	850	1	GNPTG	16	1412896	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1144	1412896	88941857	11330	14946											
CLCN7	1186	broad.mit.edu	37	16	1504419	1504419	+	Silent	SNP	G	G	A	rs140154323		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:1504419G>A	ENST00000382745.4	-	13	1751	c.1146C>T	c.(1144-1146)ggC>ggT	p.G382G	CLCN7_ENST00000448525.1_Silent_p.G358G|CLCN7_ENST00000262318.8_Silent_p.G358G	NM_001287.5	NP_001278.1	P51798	CLCN7_HUMAN	chloride channel, voltage-sensitive 7	382						integral to membrane|lysosomal membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity			breast(2)|central_nervous_system(3)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	24		Hepatocellular(780;0.0893)				TACCCACCACGCCCATGGCGA	0.627													10	25					0	0	1	0	0	A	1504419	G	A	1504419	2	1	81	1	0	0	0	0	0	0	0	1	3491	1074	38	1		1	CLCN7	16	1504419	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	91523	1504419	88850334	11331	14947											
PTX4	390667	broad.mit.edu	37	16	1537523	1537523	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:1537523T>C	ENST00000447419.2	-	2	615	c.590A>G	c.(589-591)gAg>gGg	p.E197G	PTX4_ENST00000440447.2_Intron|PTX4_ENST00000293922.1_Missense_Mutation_p.E192G			Q96A99	PTX4_HUMAN	pentraxin 4, long	197						extracellular region	metal ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17						GCCCAGCTCCTCAGGCTGGGT	0.731													10	10					0	0	1	0	0	C	1537523	T	C	1537523	3	2	81	1	0	0	0	0	1	0	0	0	12875	1551	54	3	853	3	PTX4	16	1537523	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	33104	1537523	88817230	11332	14948											
PTX4	390667	broad.mit.edu	37	16	1537618	1537618	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:1537618G>A	ENST00000447419.2	-	2	520	c.495C>T	c.(493-495)ggC>ggT	p.G165G	PTX4_ENST00000440447.2_Intron|PTX4_ENST00000293922.1_Silent_p.G160G			Q96A99	PTX4_HUMAN	pentraxin 4, long	165						extracellular region	metal ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17						CCAGCCTGGCGCCCTGGCTGT	0.736													6	18					0	0	1	0	0	A	1537618	G	A	1537618	2	1	81	1	0	0	0	0	0	0	0	1	12875	1074	38	1		1	PTX4	16	1537618	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	95	1537618	88817135	11333	14949											
PTX4	390667	broad.mit.edu	37	16	1537798	1537798	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:1537798C>A	ENST00000447419.2	-	2	340	c.315G>T	c.(313-315)aaG>aaT	p.K105N	PTX4_ENST00000440447.2_Missense_Mutation_p.K105N|PTX4_ENST00000293922.1_Missense_Mutation_p.K100N			Q96A99	PTX4_HUMAN	pentraxin 4, long	105						extracellular region	metal ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17						TCACCCAGGCCTTGAGCTGCG	0.701													6	77					0.27861	0.279815	1	1	0	A	1537798	C	A	1537798	3	1	81	1	0	0	0	0	1	0	0	0	12875	680	24	4	1128	4	PTX4	16	1537798	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	180	1537798	88816955	11334	14950											
IFT140	9742	broad.mit.edu	37	16	1570040	1570040	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:1570040A>G	ENST00000426508.2	-	29	4245	c.3882T>C	c.(3880-3882)atT>atC	p.I1294I	IFT140_ENST00000361339.5_Silent_p.I488I	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN	intraflagellar transport 140 homolog (Chlamydomonas)	1294										breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				GGTATTCATCAATCTCCACCT	0.647													16	26					0	0	1	0	0	G	1570040	A	G	1570040	2	3	81	1	0	0	0	0	0	0	0	1	7600	126	5	3		3	IFT140	16	1570040	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	32242	1570040	88784713	11335	14951											
TMEM204	79652	broad.mit.edu	37	16	1584372	1584372	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:1584372C>T	ENST00000566264.1	+	1	799	c.96C>T	c.(94-96)tgC>tgT	p.C32C	IFT140_ENST00000426508.2_Intron|TMEM204_ENST00000253934.5_Silent_p.C32C	NM_024600.5	NP_078876.2	Q9BSN7	TM204_HUMAN	transmembrane protein 204	32					response to stress	adherens junction|integral to membrane				NS(1)|breast(1)|cervix(1)|endometrium(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	11		Hepatocellular(780;0.219)				ACTGGGTGTGCCAGACGCTGG	0.701													39	37					0	0	1	0	0	T	1584372	C	T	1584372	2	4	81	1	0	0	0	0	0	0	0	1	16189	747	26	2		2	TMEM204	16	1584372	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	14332	1584372	88770381	11336	14952											
IFT140	9742	broad.mit.edu	37	16	1630804	1630804	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:1630804C>T	ENST00000426508.2	-	13	1843	c.1480G>A	c.(1480-1482)Gtt>Att	p.V494I	LA16c-395F10.2_ENST00000563162.1_RNA|IFT140_ENST00000439987.2_5'UTR	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN	intraflagellar transport 140 homolog (Chlamydomonas)	494										breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				ACCGTGTAAACGTTTTCTTCA	0.498													10	41					0	0	1	0	0	T	1630804	C	T	1630804	3	4	81	1	0	0	0	0	1	0	0	0	7600	536	19	1	2984	1	IFT140	16	1630804	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	46432	1630804	88723949	11337	14953											
CRAMP1L	57585	broad.mit.edu	37	16	1710039	1710039	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:1710039G>A	ENST00000397412.3	+	11	2487	c.2388G>A	c.(2386-2388)ccG>ccA	p.P796P	LA16c-431H6.6_ENST00000454337.1_3'UTR|CRAMP1L_ENST00000436138.3_Silent_p.P793P|CRAMP1L_ENST00000262317.4_Silent_p.P174P|CRAMP1L_ENST00000293925.5_Silent_p.P796P			Q96RY5	CRML_HUMAN	Crm, cramped-like (Drosophila)	796						nucleus	DNA binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)	22						AGACCTTCCCGCCCAGCTCTG	0.682													7	5					0	0	1	0	0	A	1710039	G	A	1710039	2	1	81	1	0	0	0	0	0	0	0	1	3869	1074	38	1		1	CRAMP1L	16	1710039	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	79235	1710039	88644714	11338	14954											
MAPK8IP3	23162	broad.mit.edu	37	16	1797132	1797132	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:1797132G>A	ENST00000250894.4	+	6	1004	c.847G>A	c.(847-849)Gcc>Acc	p.A283T	MAPK8IP3_ENST00000568271.1_3'UTR|MAPK8IP3_ENST00000356010.5_Missense_Mutation_p.A283T	NM_015133.3	NP_055948.2	Q9UPT6	JIP3_HUMAN	mitogen-activated protein kinase 8 interacting protein 3	283					vesicle-mediated transport	Golgi membrane	kinesin binding|MAP-kinase scaffold activity|protein kinase binding			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	42						CGTGCCCTCGGCCGCCGTCAC	0.667													24	36					0	0	1	0	0	A	1797132	G	A	1797132	3	1	81	1	0	0	0	0	1	0	0	0	9336	1203	42	2	869	2	MAPK8IP3	16	1797132	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	87093	1797132	88557621	11339	14955											
MAPK8IP3	23162	broad.mit.edu	37	16	1812999	1812999	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:1812999C>A	ENST00000250894.4	+	16	2044	c.1887C>A	c.(1885-1887)ttC>ttA	p.F629L	MAPK8IP3_ENST00000356010.5_Missense_Mutation_p.F623L	NM_015133.3	NP_055948.2	Q9UPT6	JIP3_HUMAN	mitogen-activated protein kinase 8 interacting protein 3	629					vesicle-mediated transport	Golgi membrane	kinesin binding|MAP-kinase scaffold activity|protein kinase binding			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	42						TGGAATTCTTCCCTGACGAGT	0.652													5	45					1	1	1	1	0	A	1812999	C	A	1812999	3	1	81	1	0	0	0	0	1	0	0	0	9336	854	30	5	1965	5	MAPK8IP3	16	1812999	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	15867	1812999	88541754	11340	14956											
SPSB3	90864	broad.mit.edu	37	16	1827157	1827157	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:1827157C>T	ENST00000566339.1	-	7	1339	c.1009G>A	c.(1009-1011)Gcc>Acc	p.A337T	SPSB3_ENST00000301717.4_Missense_Mutation_p.A337T	NM_080861.3	NP_543137.2	Q6PJ21	SPSB3_HUMAN	splA/ryanodine receptor domain and SOCS box containing 3	337					intracellular signal transduction					endometrium(1)|kidney(4)|lung(3)|prostate(2)	10						CTGGGGTGGGCGGAGGTCGCT	0.672													30	28					0	0	1	0	0	T	1827157	C	T	1827157	3	4	81	1	0	0	0	0	1	0	0	0	15170	768	27	1	62	1	SPSB3	16	1827157	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	14158	1827157	88527596	11341	14957											
NUBP2	10101	broad.mit.edu	37	16	1837967	1837967	+	Missense_Mutation	SNP	G	G	A	rs143322275	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:1837967G>A	ENST00000262302.9	+	5	635	c.515G>A	c.(514-516)cGc>cAc	p.R172H	NUBP2_ENST00000568706.1_Missense_Mutation_p.R31H|NUBP2_ENST00000543305.1_Missense_Mutation_p.R31H|NUBP2_ENST00000565134.1_Missense_Mutation_p.R172H|NUBP2_ENST00000565987.1_Missense_Mutation_p.R112H	NM_001284501.1|NM_012225.2	NP_001271430.1|NP_036357.1	Q9Y5Y2	NUBP2_HUMAN	nucleotide binding protein 2	172						microtubule organizing center|nucleus	4 iron, 4 sulfur cluster binding|ATP binding|metal ion binding|protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	6						GACGTGAGGCGCGAGCTGACC	0.682													30	39					0	0	1	0	0	A	1837967	G	A	1837967	3	1	81	1	0	0	0	0	1	0	0	0	10764	1087	38	1	533	1	NUBP2	16	1837967	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	10810	1837967	88516786	11342	14958											
TBL3	10607	broad.mit.edu	37	16	2026095	2026095	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:2026095C>T	ENST00000568546.1	+	12	1296	c.1168C>T	c.(1168-1170)Ctc>Ttc	p.L390F		NM_006453.2	NP_006444.2	Q12788	TBL3_HUMAN	transducin (beta)-like 3	390					G-protein signaling, coupled to cGMP nucleotide second messenger|rRNA processing	nucleolus|small-subunit processome	receptor signaling protein activity			breast(1)|endometrium(2)|kidney(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	18						GAAGGGGTGGCTCTTTGCCAG	0.627													36	70					0	0	1	0	0	T	2026095	C	T	2026095	3	4	81	1	0	0	0	0	1	0	0	0	15703	797	28	2	1214	2	TBL3	16	2026095	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	188128	2026095	88328658	11343	14959											
TBL3	10607	broad.mit.edu	37	16	2027420	2027420	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:2027420C>A	ENST00000568546.1	+	16	1863	c.1735C>A	c.(1735-1737)Ctg>Atg	p.L579M		NM_006453.2	NP_006444.2	Q12788	TBL3_HUMAN	transducin (beta)-like 3	579					G-protein signaling, coupled to cGMP nucleotide second messenger|rRNA processing	nucleolus|small-subunit processome	receptor signaling protein activity			breast(1)|endometrium(2)|kidney(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	18						CACGCAGCTGCTGTCCAGGTG	0.657													16	26					7.07596e-05	7.81712e-05	1	1	0	A	2027420	C	A	2027420	3	1	81	1	0	0	0	0	1	0	0	0	15703	796	28	4	1797	4	TBL3	16	2027420	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1325	2027420	88327333	11344	14960											
ZNF598	90850	broad.mit.edu	37	16	2048278	2048278	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:2048278G>A	ENST00000563630.1	-	12	2747	c.2505C>T	c.(2503-2505)gaC>gaT	p.D835D	AC005606.15_ENST00000567515.1_lincRNA|ZNF598_ENST00000431526.1_Silent_p.D890D|ZNF598_ENST00000562103.1_Silent_p.D835D			Q86UK7	ZN598_HUMAN	zinc finger protein 598	890						intracellular	zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|skin(1)|urinary_tract(1)	16						GGAAGTCGTCGTCCCGGGCAG	0.687													30	120					0	0	1	0	0	A	2048278	G	A	2048278	2	1	81	1	0	0	0	0	0	0	0	1	18085	1136	40	1		1	ZNF598	16	2048278	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	20858	2048278	88306475	11345	14961											
ZNF598	90850	broad.mit.edu	37	16	2049731	2049731	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:2049731G>A	ENST00000563630.1	-	9	1896	c.1654C>T	c.(1654-1656)Ccc>Tcc	p.P552S	ZNF598_ENST00000431526.1_Missense_Mutation_p.P607S|ZNF598_ENST00000562103.1_Missense_Mutation_p.P552S			Q86UK7	ZN598_HUMAN	zinc finger protein 598	607						intracellular	zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|skin(1)|urinary_tract(1)	16						CAGGTAGCGGGCGGGGGCTGT	0.642													14	23					0	0	1	0	0	A	2049731	G	A	2049731	3	1	81	1	0	0	0	0	1	0	0	0	18085	1203	42	2	911	2	ZNF598	16	2049731	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1453	2049731	88305022	11346	14962											
ZNF598	90850	broad.mit.edu	37	16	2051688	2051688	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:2051688G>A	ENST00000563630.1	-	6	986	c.744C>T	c.(742-744)ggC>ggT	p.G248G	ZNF598_ENST00000431526.1_Silent_p.G303G|ZNF598_ENST00000562103.1_Silent_p.G248G			Q86UK7	ZN598_HUMAN	zinc finger protein 598	303						intracellular	zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|skin(1)|urinary_tract(1)	16						CGTAGTCTTCGCCACCAACGA	0.692													9	14					0	0	1	0	0	A	2051688	G	A	2051688	2	1	81	1	0	0	0	0	0	0	0	1	18085	1074	38	1		1	ZNF598	16	2051688	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1957	2051688	88303065	11347	14963											
SLC9A3R2	9351	broad.mit.edu	37	16	2087922	2087922	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:2087922A>G	ENST00000424542.2	+	7	1089	c.951A>G	c.(949-951)cgA>cgG	p.R317R	SLC9A3R2_ENST00000432365.2_Silent_p.R306R|SLC9A3R2_ENST00000566198.1_Silent_p.R206R|SLC9A3R2_ENST00000563587.1_Silent_p.R211R	NM_001130012.2|NM_004785.5	NP_001123484.1|NP_004776.3	Q15599	NHRF2_HUMAN	solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 regulator 2	317					protein complex assembly	apical plasma membrane|endomembrane system|nucleus	beta-catenin binding|phosphatase binding|protein C-terminus binding|receptor binding			central_nervous_system(1)|endometrium(1)	2						GAGCCATGCGAGTCAACAAGC	0.637													6	8					0	0	1	0	0	G	2087922	A	G	2087922	2	3	81	1	0	0	0	0	0	0	0	1	14770	291	11	3		3	SLC9A3R2	16	2087922	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	36234	2087922	88266831	11348	14964											
NTHL1	4913	broad.mit.edu	37	16	2093650	2093650	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:2093650G>A	ENST00000219066.1	-	4	645	c.627C>T	c.(625-627)gcC>gcT	p.A209A	NTHL1_ENST00000562951.1_5'UTR	NM_002528.5	NP_002519.1	P78549	NTHL1_HUMAN	nth endonuclease III-like 1 (E. coli)	209					depyrimidination|nucleotide-excision repair, DNA incision, 5'-to lesion	nucleoplasm	4 iron, 4 sulfur cluster binding|double-stranded DNA binding|endonuclease activity|metal ion binding|oxidized pyrimidine base lesion DNA N-glycosylase activity|protein binding			lung(1)	1						CCACCAGCTCGGCCACAGAGG	0.622								Base excision repair (BER), DNA glycosylases					9	20					0	0	1	0	0	A	2093650	G	A	2093650	2	1	81	1	0	0	0	0	0	0	0	1	10746	1103	39	1		1	NTHL1	16	2093650	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	5728	2093650	88261103	11349	14965											
NTHL1	4913	broad.mit.edu	37	16	2094713	2094713	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:2094713G>A	ENST00000219066.1	-	3	485	c.467C>T	c.(466-468)gCg>gTg	p.A156V		NM_002528.5	NP_002519.1	P78549	NTHL1_HUMAN	nth endonuclease III-like 1 (E. coli)	156					depyrimidination|nucleotide-excision repair, DNA incision, 5'-to lesion	nucleoplasm	4 iron, 4 sulfur cluster binding|double-stranded DNA binding|endonuclease activity|metal ion binding|oxidized pyrimidine base lesion DNA N-glycosylase activity|protein binding			lung(1)	1						CAGGCCCCGCGCCCGCAGTCG	0.642								Base excision repair (BER), DNA glycosylases					7	11					0	0	1	0	0	A	2094713	G	A	2094713	3	1	81	1	0	0	0	0	1	0	0	0	10746	1087	38	1	487	1	NTHL1	16	2094713	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1063	2094713	88260040	11350	14966											
TSC2	7249	broad.mit.edu	37	16	2105475	2105475	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:2105475A>G	ENST00000219476.3	+	6	1184	c.554A>G	c.(553-555)aAa>aGa	p.K185R	TSC2_ENST00000568454.1_Missense_Mutation_p.K196R|TSC2_ENST00000439673.2_Missense_Mutation_p.K148R|TSC2_ENST00000353929.4_Missense_Mutation_p.K185R|TSC2_ENST00000401874.2_Missense_Mutation_p.K185R|TSC2_ENST00000382538.6_Missense_Mutation_p.K136R|TSC2_ENST00000350773.4_Missense_Mutation_p.K185R	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	185	Required for interaction with TSC1.				cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex	GTPase activator activity|protein homodimerization activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				AACTTGGTCAAATTCAATAGC	0.493			"D, Mis, N, F, S"			"hamartoma, renal cell"			Tuberous Sclerosis				44	97					0	0	1	0	0	G	2105475	A	G	2105475	3	3	81	1	0	0	0	0	1	0	0	0	16667	14	1	3	572	3	TSC2	16	2105475	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	10762	2105475	88249278	11351	14967											
TSC2	7249	broad.mit.edu	37	16	2125816	2125816	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:2125816G>A	ENST00000219476.3	+	23	3192	c.2562G>A	c.(2560-2562)ccG>ccA	p.P854P	TSC2_ENST00000568454.1_Silent_p.P865P|TSC2_ENST00000439673.2_Silent_p.P817P|TSC2_ENST00000353929.4_Silent_p.P854P|TSC2_ENST00000401874.2_Silent_p.P854P|TSC2_ENST00000382538.6_Silent_p.P805P|TSC2_ENST00000350773.4_Silent_p.P854P	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	854					cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex	GTPase activator activity|protein homodimerization activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				CCAGGCTGCCGCACCTCTACA	0.662			"D, Mis, N, F, S"			"hamartoma, renal cell"			Tuberous Sclerosis				20	23					0	0	1	0	0	A	2125816	G	A	2125816	2	1	81	1	0	0	0	0	0	0	0	1	16667	1074	38	1		1	TSC2	16	2125816	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	20341	2125816	88228937	11352	14968											
PKD1	5310	broad.mit.edu	37	16	2140444	2140444	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:2140444A>G	ENST00000262304.4	-	45	12494	c.12286T>C	c.(12286-12288)Tgg>Cgg	p.W4096R	PKD1_ENST00000423118.1_Missense_Mutation_p.W4095R	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	4096					calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						AGGGCGCCCCACAGCCGCAGT	0.677													4	9					0	0	1	0	0	G	2140444	A	G	2140444	3	3	81	1	0	0	0	0	1	0	0	0	12011	159	6	3	633	3	PKD1	16	2140444	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	14628	2140444	88214309	11353	14969											
PKD1	5310	broad.mit.edu	37	16	2153324	2153324	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:2153324C>T	ENST00000262304.4	-	23	8942	c.8734G>A	c.(8734-8736)Gac>Aac	p.D2912N	PKD1_ENST00000423118.1_Missense_Mutation_p.D2912N	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	2912					calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						TTGCTGCTGTCCAGGGTGACC	0.697													17	36					0	0	1	0	0	T	2153324	C	T	2153324	3	4	81	1	0	0	0	0	1	0	0	0	12011	855	30	2	4273	2	PKD1	16	2153324	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	12880	2153324	88201429	11354	14970											
PKD1	5310	broad.mit.edu	37	16	2153459	2153459	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:2153459C>T	ENST00000262304.4	-	23	8807	c.8599G>A	c.(8599-8601)Gcc>Acc	p.A2867T	PKD1_ENST00000423118.1_Missense_Mutation_p.A2867T	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	2867					calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						CGCTCTGAGGCCAGCCGCTCG	0.642													19	52					0	0	1	0	0	T	2153459	C	T	2153459	3	4	81	1	0	0	0	0	1	0	0	0	12011	739	26	2	4408	2	PKD1	16	2153459	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	135	2153459	88201294	11355	14971											
CASKIN1	57524	broad.mit.edu	37	16	2229990	2229990	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:2229990G>A	ENST00000343516.6	-	18	3471	c.3379C>T	c.(3379-3381)Cgc>Tgc	p.R1127C		NM_020764.3	NP_065815.1	Q8WXD9	CSKI1_HUMAN	CASK interacting protein 1	1127	Pro-rich.				signal transduction	cytoplasm				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|liver(1)|lung(7)|ovary(4)|prostate(5)|skin(3)	28						GCCCGGATGCGCCTCTTGAGT	0.682													3	8					0	0	1	0	0	A	2229990	G	A	2229990	3	1	81	1	0	0	0	0	1	0	0	0	2684	1087	38	1	928	1	CASKIN1	16	2229990	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	76531	2229990	88124763	11356	14972											
CASKIN1	57524	broad.mit.edu	37	16	2231312	2231312	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:2231312G>A	ENST00000343516.6	-	18	2149	c.2057C>T	c.(2056-2058)cCg>cTg	p.P686L		NM_020764.3	NP_065815.1	Q8WXD9	CSKI1_HUMAN	CASK interacting protein 1	686					signal transduction	cytoplasm				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|liver(1)|lung(7)|ovary(4)|prostate(5)|skin(3)	28						GGTGGCCCTCGGGGTGGGTGG	0.711													6	1					0	0	1	0	0	A	2231312	G	A	2231312	3	1	81	1	0	0	0	0	1	0	0	0	2684	1116	39	1	2250	1	CASKIN1	16	2231312	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1322	2231312	88123441	11357	14973											
MLST8	64223	broad.mit.edu	37	16	2258236	2258236	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:2258236C>T	ENST00000569417.1	+	7	953	c.599C>T	c.(598-600)aCg>aTg	p.T200M	MLST8_ENST00000565250.1_Missense_Mutation_p.T200M|MLST8_ENST00000301724.10_Missense_Mutation_p.T200M|MLST8_ENST00000561651.1_Intron|MLST8_ENST00000564088.1_Missense_Mutation_p.T200M|MLST8_ENST00000301725.7_Intron|MLST8_ENST00000382450.4_Missense_Mutation_p.T199M|MLST8_ENST00000397124.1_Missense_Mutation_p.T200M	NM_022372.4	NP_071767.3	Q9BVC4	LST8_HUMAN	MTOR associated protein, LST8 homolog (S. cerevisiae)	200					insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|T cell costimulation	cytosol	protein binding			large_intestine(3)|lung(2)|skin(1)	6						TGGAATCTGACGGGGGGCATT	0.632													9	104					0	0	1	0	0	T	2258236	C	T	2258236	3	4	81	1	0	0	0	0	1	0	0	0	9682	536	19	1	621	1	MLST8	16	2258236	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	26924	2258236	88096517	11358	14974											
MLST8	64223	broad.mit.edu	37	16	2258454	2258454	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:2258454C>T	ENST00000301725.7	+	7	634	c.634C>T	c.(634-636)Cct>Tct	p.P212S	MLST8_ENST00000565250.1_Silent_p.L234L|MLST8_ENST00000301724.10_Silent_p.L234L|MLST8_ENST00000561651.1_3'UTR|MLST8_ENST00000564088.1_Silent_p.L234L|MLST8_ENST00000382450.4_Silent_p.L233L|MLST8_ENST00000397124.1_Silent_p.L234L|MLST8_ENST00000569417.1_Silent_p.L234L			Q9BVC4	LST8_HUMAN	MTOR associated protein, LST8 homolog (S. cerevisiae)	0					insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|T cell costimulation	cytosol	protein binding			large_intestine(3)|lung(2)|skin(1)	6						CCACTAGGCTCCTCGCCACCT	0.672													21	37					0	0	1	0	0	T	2258454	C	T	2258454	3	4	81	1	0	0	0	0	1	0	0	0	9682	842	30	2	728	2	MLST8	16	2258454	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	218	2258454	88096299	11359	14975											
E4F1	1877	broad.mit.edu	37	16	2284592	2284592	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:2284592G>A	ENST00000301727.4	+	11	1650	c.1602G>A	c.(1600-1602)caG>caA	p.Q534Q	E4F1_ENST00000564139.1_Silent_p.Q534Q|E4F1_ENST00000565090.1_Intron	NM_004424.3	NP_004415.2	Q66K89	E4F1_HUMAN	E4F transcription factor 1	534	Interaction with BMI1.|Mediates interaction with CDKN2A.|Mediates interaction with TP53.				cell division|cell proliferation|interspecies interaction between organisms|mitosis|regulation of growth	cytoplasm|nucleoplasm	DNA binding|ligase activity|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			ovary(1)	1						AGAACGCACAGCAGGTGCACT	0.647													3	3					0	0	1	0	0	A	2284592	G	A	2284592	2	1	81	1	0	0	0	0	0	0	0	1	4900	962	34	2		2	E4F1	16	2284592	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	26138	2284592	88070161	11360	14976											
E4F1	1877	broad.mit.edu	37	16	2285119	2285119	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:2285119A>G	ENST00000301727.4	+	13	2021	c.1973A>G	c.(1972-1974)gAg>gGg	p.E658G	E4F1_ENST00000564139.1_Missense_Mutation_p.R641G|E4F1_ENST00000565090.1_Missense_Mutation_p.E481G	NM_004424.3	NP_004415.2	Q66K89	E4F1_HUMAN	E4F transcription factor 1	658					cell division|cell proliferation|interspecies interaction between organisms|mitosis|regulation of growth	cytoplasm|nucleoplasm	DNA binding|ligase activity|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			ovary(1)	1						GAGGCCACGGAGATCATCGAG	0.701													7	42					0	0	1	0	0	G	2285119	A	G	2285119	3	3	81	1	0	0	0	0	1	0	0	0	4900	304	11	3	2023	3	E4F1	16	2285119	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	527	2285119	88069634	11361	14977											
ABCA3	21	broad.mit.edu	37	16	2333211	2333211	+	Silent	SNP	G	G	A	rs144957382		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:2333211G>A	ENST00000301732.5	-	26	4711	c.4011C>T	c.(4009-4011)tgC>tgT	p.C1337C	ABCA3_ENST00000382381.3_Silent_p.C1279C	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	1337					response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)				TCCGGAGGGCGCAGAGGATGC	0.662													16	17					0	0	1	0	0	A	2333211	G	A	2333211	2	1	81	1	0	0	0	0	0	0	0	1	33	1079	38	1		1	ABCA3	16	2333211	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	48092	2333211	88021542	11362	14978											
ABCA3	21	broad.mit.edu	37	16	2348503	2348503	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:2348503C>T	ENST00000301732.5	-	15	2480	c.1780G>A	c.(1780-1782)Ggg>Agg	p.G594R	ABCA3_ENST00000382381.3_Missense_Mutation_p.G536R	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	594	ABC transporter 1.				response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)				ATTTCATACCCGCTGATGTAT	0.587													19	37					0	0	1	0	0	T	2348503	C	T	2348503	3	4	81	1	0	0	0	0	1	0	0	0	33	652	23	1	3410	1	ABCA3	16	2348503	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	15292	2348503	88006250	11363	14979											
ABCA3	21	broad.mit.edu	37	16	2367363	2367363	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:2367363G>T	ENST00000301732.5	-	10	1732	c.1032C>A	c.(1030-1032)tcC>tcA	p.S344S	ABCA3_ENST00000382381.3_Silent_p.S344S	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	344					response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)				CGAGCACCAGGGAGGGGTCGC	0.622													14	98					4.36969e-10	5.3233e-10	1	1	0	T	2367363	G	T	2367363	2	4	81	1	0	0	0	0	0	0	0	1	33	1219	43	5		5	ABCA3	16	2367363	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	18860	2367363	87987390	11364	14980											
ABCA3	21	broad.mit.edu	37	16	2369603	2369603	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:2369603C>A	ENST00000301732.5	-	8	1552	c.852G>T	c.(850-852)caG>caT	p.Q284H	ABCA3_ENST00000382381.3_Missense_Mutation_p.Q284H	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	284					response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)				TTTCCTTCTCCTGCACGACAG	0.607													18	33					5.03518e-11	6.21509e-11	1	1	0	A	2369603	C	A	2369603	3	1	81	1	0	0	0	0	1	0	0	0	33	680	24	4	4366	4	ABCA3	16	2369603	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2240	2369603	87985150	11365	14981											
CCNF	899	broad.mit.edu	37	16	2498892	2498892	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:2498892C>T	ENST00000397066.4	+	11	1219	c.1131C>T	c.(1129-1131)gcC>gcT	p.A377A		NM_001761.2	NP_001752.2	P41002	CCNF_HUMAN	cyclin F	377	Cyclin N-terminal.				cell division|mitosis|negative regulation of centrosome duplication|protein ubiquitination|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	centriole|nucleus|SCF ubiquitin ligase complex	protein binding			breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(2)|lung(5)|prostate(4)|skin(1)	20		Ovarian(90;0.17)				TCCGGGAGGCCGTATGGCTCA	0.587													57	63					0	0	1	0	0	T	2498892	C	T	2498892	2	4	81	1	0	0	0	0	0	0	0	1	2944	639	23	1		1	CCNF	16	2498892	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	129289	2498892	87855861	11366	14982											
NTN3	4917	broad.mit.edu	37	16	2523469	2523469	+	Missense_Mutation	SNP	G	G	A	rs140362721		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:2523469G>A	ENST00000293973.1	+	5	1561	c.1358G>A	c.(1357-1359)cGc>cAc	p.R453H		NM_006181.2	NP_006172.1	O00634	NET3_HUMAN	netrin 3	453	NTR.				axon guidance|muscle cell differentiation|positive regulation of muscle cell differentiation	proteinaceous extracellular matrix				breast(1)|central_nervous_system(2)|lung(3)|prostate(1)	7						GGCAGCTACCGCATCAGCCTA	0.617													38	68					0	0	1	0	0	A	2523469	G	A	2523469	3	1	81	1	0	0	0	0	1	0	0	0	10749	1087	38	1	1376	1	NTN3	16	2523469	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	24577	2523469	87831284	11367	14983											
TBC1D24	57465	broad.mit.edu	37	16	2547099	2547099	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:2547099C>T	ENST00000567020.1	+	2	1090	c.950C>T	c.(949-951)aCc>aTc	p.T317I	TBC1D24_ENST00000434757.2_Missense_Mutation_p.T317I|RP11-20I23.1_ENST00000564543.1_Missense_Mutation_p.T317I|TBC1D24_ENST00000293970.5_Missense_Mutation_p.T317I	NM_020705.2	NP_065756.1	Q9ULP9	TBC24_HUMAN	TBC1 domain family, member 24	317					neuron projection development	cytoplasm	protein binding|Rab GTPase activator activity			endometrium(2)|kidney(4)|large_intestine(3)|lung(4)	13						AAGGGCATCACCGTGAAGCAG	0.632													6	45					0	0	1	0	0	T	2547099	C	T	2547099	3	4	81	1	0	0	0	0	1	0	0	0	15671	507	18	2	952	2	TBC1D24	16	2547099	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	23630	2547099	87807654	11368	14984											
ATP6V0C	527	broad.mit.edu	37	16	2569642	2569642	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:2569642G>A	ENST00000330398.4	+	3	598	c.364G>A	c.(364-366)Gcc>Acc	p.A122T	ATP6V0C_ENST00000565223.1_Missense_Mutation_p.A79T|ATP6V0C_ENST00000568562.1_3'UTR|RP11-20I23.1_ENST00000564543.1_3'UTR|ATP6C_ENST00000569317.1_Intron|ATP6V0C_ENST00000564973.1_Missense_Mutation_p.A79T	NM_001198569.1|NM_001694.3	NP_001185498.1|NP_001685.1	P27449	VATL_HUMAN	ATPase, H+ transporting, lysosomal 16kDa, V0 subunit c	122					ATP hydrolysis coupled proton transport|ATP synthesis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|interspecies interaction between organisms|transferrin transport	endosome membrane|integral to membrane|proton-transporting ATP synthase complex, coupling factor F(o)|proton-transporting V-type ATPase, V0 domain|vacuolar membrane	hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism|ubiquitin protein ligase binding			endometrium(1)|lung(1)|ovary(1)	3		Ovarian(90;0.17)				GCGGGGCACCGCCCAGCAGCC	0.672													16	23					0	0	1	0	0	A	2569642	G	A	2569642	3	1	81	1	0	0	0	0	1	0	0	0	1170	1087	38	1	374	1	ATP6V0C	16	2569642	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	22543	2569642	87785111	11369	14985											
AMDHD2	51005	broad.mit.edu	37	16	2580303	2580303	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:2580303C>T	ENST00000413459.3	+	11	1397	c.1328C>T	c.(1327-1329)gCa>gTa	p.A443V	AMDHD2_ENST00000302956.4_3'UTR|AMDHD2_ENST00000565570.1_3'UTR|CEMP1_ENST00000567119.1_3'UTR|CEMP1_ENST00000382350.1_3'UTR	NM_001145815.1	NP_001139287.1	Q9Y303	NAGA_HUMAN	amidohydrolase domain containing 2	222					N-acetylglucosamine metabolic process		N-acetylglucosamine-6-phosphate deacetylase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(3)|skin(2)|urinary_tract(2)	19						TGCTGGAGGGCAGTATGGGAG	0.582													18	23					0	0	1	0	0	T	2580303	C	T	2580303	3	4	81	1	0	0	0	0	1	0	0	0	564	710	25	2	1408	2	AMDHD2	16	2580303	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	10661	2580303	87774450	11370	14986											
SRRM2	23524	broad.mit.edu	37	16	2812116	2812116	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:2812116G>T	ENST00000301740.8	+	11	2136	c.1587G>T	c.(1585-1587)caG>caT	p.Q529H		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	529	Arg-rich.|Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						GAAGCCCCCAGCGACGTGGCC	0.607													29	38					8.16721e-17	1.05009e-16	1	1	0	T	2812116	G	T	2812116	3	4	81	1	0	0	0	0	1	0	0	0	15225	962	34	4	1625	4	SRRM2	16	2812116	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	231813	2812116	87542637	11371	14987											
SRRM2	23524	broad.mit.edu	37	16	2812622	2812622	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:2812622G>A	ENST00000301740.8	+	11	2642	c.2093G>A	c.(2092-2094)aGa>aAa	p.R698K		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	698	Arg-rich.|Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						AGGACACCAAGACGAGGAAGA	0.552													12	71					0	0	1	0	0	A	2812622	G	A	2812622	3	1	81	1	0	0	0	0	1	0	0	0	15225	942	33	2	2131	2	SRRM2	16	2812622	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	506	2812622	87542131	11372	14988											
SRRM2	23524	broad.mit.edu	37	16	2814399	2814399	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:2814399G>T	ENST00000301740.8	+	11	4419	c.3870G>T	c.(3868-3870)caG>caT	p.Q1290H		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	1290	Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						GCCAGTCACAGGCTTCTTTGG	0.453													21	190					2.89027e-11	3.57291e-11	1	1	0	T	2814399	G	T	2814399	3	4	81	1	0	0	0	0	1	0	0	0	15225	991	35	4	3908	4	SRRM2	16	2814399	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1777	2814399	87540354	11373	14989	74	2									
SRRM2	23524	broad.mit.edu	37	16	2814401	2814401	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:2814401C>T	ENST00000301740.8	+	11	4421	c.3872C>T	c.(3871-3873)gCt>gTt	p.A1291V		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	1291	Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						CAGTCACAGGCTTCTTTGGAA	0.453													68	142					0	0	1	0	0	T	2814401	C	T	2814401	3	4	81	1	0	0	0	0	1	0	0	0	15225	797	28	2	3910	2	SRRM2	16	2814401	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2	2814401	87540352	11374	14990	74	2									
PAQR4	124222	broad.mit.edu	37	16	3021868	3021868	+	Silent	SNP	C	C	T	rs142808297	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:3021868C>T	ENST00000318782.8	+	3	1171	c.741C>T	c.(739-741)agC>agT	p.S247S	PAQR4_ENST00000572687.1_Silent_p.S173S|PAQR4_ENST00000574988.1_Silent_p.S180S|PAQR4_ENST00000576565.1_Silent_p.S180S|PKMYT1_ENST00000431515.2_Intron|PAQR4_ENST00000293978.8_Silent_p.S208S	NM_001284513.1|NM_152341.3	NP_001271442.1|NP_689554.2	Q8N4S7	PAQR4_HUMAN	progestin and adipoQ receptor family member IV	247						integral to membrane	receptor activity			kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	8						ACCTGCTGAGCGTGGGCTCCA	0.677													4	45					0	0	1	0	0	T	3021868	C	T	3021868	2	4	81	1	0	0	0	0	0	0	0	1	11484	767	27	1		1	PAQR4	16	3021868	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	207467	3021868	87332885	11375	14991											
PKMYT1	9088	broad.mit.edu	37	16	3024032	3024032	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:3024032G>A	ENST00000431515.2	-	7	1664	c.1279C>T	c.(1279-1281)Ctc>Ttc	p.L427F	PKMYT1_ENST00000262300.8_Missense_Mutation_p.L427F|PKMYT1_ENST00000574730.1_Missense_Mutation_p.L358F|PKMYT1_ENST00000440027.2_Missense_Mutation_p.L427F|PKMYT1_ENST00000573944.1_Missense_Mutation_p.L418F|PKMYT1_ENST00000574385.1_Missense_Mutation_p.L418F			Q99640	PMYT1_HUMAN	protein kinase, membrane associated tyrosine/threonine 1	427	Interaction with PIN1.			L -> F (in Ref. 1; AAB71843).	G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of mitosis	endoplasmic reticulum membrane|Golgi membrane|membrane fraction|nucleoplasm	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	10						TTGCTGGAGAGGCTGCTGTCC	0.662													12	11					0	0	1	0	0	A	3024032	G	A	3024032	3	1	81	1	0	0	0	0	1	0	0	0	12026	1000	35	2	270	2	PKMYT1	16	3024032	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2164	3024032	87330721	11376	14992											
THOC6	79228	broad.mit.edu	37	16	3075782	3075782	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:3075782T>C	ENST00000326266.8	+	2	409	c.113T>C	c.(112-114)tTt>tCt	p.F38S	THOC6_ENST00000253952.9_Missense_Mutation_p.F38S|THOC6_ENST00000574549.1_Missense_Mutation_p.F14S|THOC6_ENST00000575576.1_Missense_Mutation_p.F14S	NM_024339.3	NP_077315.2	Q86W42	THOC6_HUMAN	THO complex 6 homolog (Drosophila)	38					intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	RNA binding			central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	13						TGTGGGAAGTTTCTGGCGGCT	0.582													24	40					0	0	1	0	0	C	3075782	T	C	3075782	3	2	81	1	0	0	0	0	1	0	0	0	15929	1841	64	3	119	3	THOC6	16	3075782	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	51750	3075782	87278971	11377	14993											
THOC6	79228	broad.mit.edu	37	16	3075971	3075971	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:3075971C>A	ENST00000326266.8	+	3	498	c.202C>A	c.(202-204)Ccg>Acg	p.P68T	THOC6_ENST00000253952.9_Missense_Mutation_p.P68T|THOC6_ENST00000574549.1_Missense_Mutation_p.P44T|THOC6_ENST00000575576.1_Missense_Mutation_p.P44T	NM_024339.3	NP_077315.2	Q86W42	THOC6_HUMAN	THO complex 6 homolog (Drosophila)	68					intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	RNA binding			central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	13						AAGTAAGAAGCCGGTGGTGAC	0.542													19	134					1.45105e-14	1.84293e-14	1	1	0	A	3075971	C	A	3075971	3	1	81	1	0	0	0	0	1	0	0	0	15929	739	26	5	212	5	THOC6	16	3075971	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	189	3075971	87278782	11378	14994											
MMP25	64386	broad.mit.edu	37	16	3097548	3097548	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:3097548G>A	ENST00000336577.4	+	2	469	c.232G>A	c.(232-234)Gac>Aac	p.D78N	MMP25_ENST00000570755.1_3'UTR	NM_022468.4	NP_071913.1	Q9NPA2	MMP25_HUMAN	matrix metallopeptidase 25	78					inflammatory response|proteolysis	anchored to membrane|cell surface|plasma membrane|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	14						CGGCCGCATGGGTAGGTGGCC	0.667													17	27					0	0	1	0	0	A	3097548	G	A	3097548	5	1	81	1	0	0	0	0	0	0	1	0	9711	1246	43	2	238	2	MMP25	16	3097548	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	21577	3097548	87257205	11379	14995											
MMP25	64386	broad.mit.edu	37	16	3100124	3100124	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:3100124A>G	ENST00000336577.4	+	3	584	c.347A>G	c.(346-348)aAg>aGg	p.K116R	MMP25_ENST00000570755.1_3'UTR	NM_022468.4	NP_071913.1	Q9NPA2	MMP25_HUMAN	matrix metallopeptidase 25	116					inflammatory response|proteolysis	anchored to membrane|cell surface|plasma membrane|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	14						AGCGTGTGGAAGAAGCGAACC	0.706													10	63					0	0	1	0	0	G	3100124	A	G	3100124	3	3	81	1	0	0	0	0	1	0	0	0	9711	72	3	3	357	3	MMP25	16	3100124	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	2576	3100124	87254629	11380	14996											
ZSCAN10	84891	broad.mit.edu	37	16	3139434	3139434	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:3139434G>A	ENST00000252463.2	-	5	1923	c.1836C>T	c.(1834-1836)tgC>tgT	p.C612C	ZSCAN10_ENST00000538082.2_Silent_p.C530C|ZSCAN10_ENST00000575108.1_Silent_p.C273C	NM_032805.1	NP_116194.1	Q96SZ4	ZSC10_HUMAN	zinc finger and SCAN domain containing 10	612					negative regulation of transcription, DNA-dependent|viral reproduction	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(3)|endometrium(3)|kidney(1)|lung(8)|ovary(2)|prostate(1)|skin(4)|urinary_tract(1)	24						AACGGTGGCCGCAGGTGTCGC	0.711													17	17					0	0	1	0	0	A	3139434	G	A	3139434	2	1	81	1	0	0	0	0	0	0	0	1	18269	1079	38	1		1	ZSCAN10	16	3139434	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	39310	3139434	87215319	11381	14997											
ZNF213	7760	broad.mit.edu	37	16	3187371	3187371	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:3187371G>T	ENST00000396878.3	+	2	565	c.90G>T	c.(88-90)caG>caT	p.Q30H	ZNF213_ENST00000574902.1_Missense_Mutation_p.Q30H|ZNF213_ENST00000576416.1_Missense_Mutation_p.Q30H	NM_001134655.1|NM_004220.2	NP_001128127.1|NP_004211.1	O14771	ZN213_HUMAN	zinc finger protein 213	30					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	16						CCTGGGAACAGGAATCTGCCC	0.617													15	54					1.15088e-07	1.34837e-07	1	1	0	T	3187371	G	T	3187371	3	4	81	1	0	0	0	0	1	0	0	0	17827	991	35	4	92	4	ZNF213	16	3187371	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	47937	3187371	87167382	11382	14998											
ZNF213	7760	broad.mit.edu	37	16	3190967	3190967	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:3190967G>A	ENST00000396878.3	+	6	1474	c.999G>A	c.(997-999)gcG>gcA	p.A333A	ZNF213_ENST00000416391.2_Silent_p.A175A|ZNF213_ENST00000574902.1_Silent_p.A333A|ZNF213_ENST00000576416.1_Silent_p.A333A	NM_001134655.1|NM_004220.2	NP_001128127.1|NP_004211.1	O14771	ZN213_HUMAN	zinc finger protein 213	333					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	16						CGGACCTGGCGCGGCACCAGC	0.706													4	7					0	0	1	0	0	A	3190967	G	A	3190967	2	1	81	1	0	0	0	0	0	0	0	1	17827	1074	38	1		1	ZNF213	16	3190967	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	3596	3190967	87163786	11383	14999											
ZNF213	7760	broad.mit.edu	37	16	3191053	3191053	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:3191053G>A	ENST00000396878.3	+	6	1560	c.1085G>A	c.(1084-1086)cGc>cAc	p.R362H	ZNF213_ENST00000416391.2_Missense_Mutation_p.R204H|ZNF213_ENST00000574902.1_Missense_Mutation_p.R362H|ZNF213_ENST00000576416.1_Missense_Mutation_p.R362H	NM_001134655.1|NM_004220.2	NP_001128127.1|NP_004211.1	O14771	ZN213_HUMAN	zinc finger protein 213	362					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	16						GACCTGGTGCGCCACCAAGGC	0.677													12	18					0	0	1	0	0	A	3191053	G	A	3191053	3	1	81	1	0	0	0	0	1	0	0	0	17827	1087	38	1	1103	1	ZNF213	16	3191053	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	86	3191053	87163700	11384	15000											
OR1F1	4992	broad.mit.edu	37	16	3254318	3254318	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:3254318G>T	ENST00000304646.2	+	1	72	c.72G>T	c.(70-72)caG>caT	p.Q24H	AJ003147.9_ENST00000576468.1_RNA	NM_012360.1	NP_036492.1	O43749	OR1F1_HUMAN	olfactory receptor, family 1, subfamily F, member 1	24					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(2)|lung(7)	11						CCCAGCAGCAGCATCTCCTCT	0.592													4	31					0.00024832	0.000269806	1	1	0	T	3254318	G	T	3254318	3	4	81	1	0	0	0	0	1	0	0	0	11004	962	34	4	74	4	OR1F1	16	3254318	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	63265	3254318	87100435	11385	15001											
ZNF200	7752	broad.mit.edu	37	16	3273916	3273916	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:3273916G>T	ENST00000431561.3	-	5	1776	c.1164C>A	c.(1162-1164)gcC>gcA	p.A388A	ZNF200_ENST00000396870.4_Silent_p.A387A|ZNF200_ENST00000396868.3_Silent_p.A387A|ZNF200_ENST00000396871.4_Silent_p.A387A|AJ003147.9_ENST00000576468.1_RNA|ZNF200_ENST00000414144.2_Silent_p.A388A|ZNF200_ENST00000575948.1_Silent_p.A387A	NM_001145447.1|NM_003454.3	NP_001138919.1|NP_003445.2	P98182	ZN200_HUMAN	zinc finger protein 200	388					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			breast(2)|kidney(2)|large_intestine(4)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	17						GGGTCTTACAGGCTGAGTGGG	0.483													22	259					9.86323e-18	1.27458e-17	1	1	0	T	3273916	G	T	3273916	2	4	81	1	0	0	0	0	0	0	0	1	17820	987	35	4		4	ZNF200	16	3273916	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	19598	3273916	87080837	11386	15002											
ZNF200	7752	broad.mit.edu	37	16	3274160	3274160	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:3274160G>T	ENST00000431561.3	-	5	1532	c.920C>A	c.(919-921)cCt>cAt	p.P307H	ZNF200_ENST00000396870.4_Missense_Mutation_p.P306H|ZNF200_ENST00000396868.3_Missense_Mutation_p.P306H|ZNF200_ENST00000396871.4_Missense_Mutation_p.P306H|AJ003147.9_ENST00000576468.1_RNA|ZNF200_ENST00000414144.2_Missense_Mutation_p.P307H|ZNF200_ENST00000575948.1_Missense_Mutation_p.P306H	NM_001145447.1|NM_003454.3	NP_001138919.1|NP_003445.2	P98182	ZN200_HUMAN	zinc finger protein 200	307					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			breast(2)|kidney(2)|large_intestine(4)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	17						ACAGGAATAAGGTTTCTCTCC	0.388													22	104					2.32416e-17	2.99827e-17	1	1	0	T	3274160	G	T	3274160	3	4	81	1	0	0	0	0	1	0	0	0	17820	1000	35	4	271	4	ZNF200	16	3274160	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	244	3274160	87080593	11387	15003											
CLUAP1	23059	broad.mit.edu	37	16	3558334	3558334	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:3558334G>A	ENST00000571025.1	+	4	315	c.265G>A	c.(265-267)Gca>Aca	p.A89T	CLUAP1_ENST00000417763.2_5'UTR|LA16c-306E5.3_ENST00000574423.2_RNA|CLUAP1_ENST00000576634.1_Missense_Mutation_p.A89T|CLUAP1_ENST00000341633.5_Missense_Mutation_p.A89T			Q96AJ1	CLUA1_HUMAN	clusterin associated protein 1	89						nucleus	protein binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(1)|ovary(1)|pancreas(1)|urinary_tract(2)	16						GCTTTATCAAGCAGATGGGTA	0.393													27	76					0	0	1	0	0	A	3558334	G	A	3558334	3	1	81	1	0	0	0	0	1	0	0	0	3592	971	34	2	279	2	CLUAP1	16	3558334	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	284174	3558334	86796419	11388	15004											
NLRC3	197358	broad.mit.edu	37	16	3592765	3592765	+	RNA	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:3592765T>C	ENST00000301749.7	-	0	3355				NLRC3_ENST00000448023.2_RNA|NLRC3_ENST00000419350.2_RNA|NLRC3_ENST00000603507.1_RNA|NLRC3_ENST00000359128.5_RNA	NM_178844.2	NP_849172.2	Q7RTR2	NLRC3_HUMAN	NLR family, CARD domain containing 3						I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|T cell activation	cytoplasm	ATP binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CCAATGGCATTTCCTCTTAAG	0.557													3	9					0	0	1	0	0	C	3592765	T	C	3592765	1	2	81	0	1	0	0	0	0	0	0	0	10515	1841	64	3		3	NLRC3	16	3592765	RNA	SNP	T	TCGA-DU-6392-01A-11D-1705-08	34431	3592765	86761988	11389	15005											
NLRC3	197358	broad.mit.edu	37	16	3614600	3614600	+	RNA	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:3614600C>T	ENST00000301749.7	-	0	743				NLRC3_ENST00000448023.2_RNA|NLRC3_ENST00000419350.2_RNA|NLRC3_ENST00000603507.1_RNA|NLRC3_ENST00000324659.8_RNA|NLRC3_ENST00000359128.5_RNA	NM_178844.2	NP_849172.2	Q7RTR2	NLRC3_HUMAN	NLR family, CARD domain containing 3						I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|T cell activation	cytoplasm	ATP binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CCCGCCCCCGCGGGTGGCCTC	0.711													16	24					0	0	1	0	0	T	3614600	C	T	3614600	1	4	81	0	1	0	0	0	0	0	0	0	10515	768	27	1		1	NLRC3	16	3614600	RNA	SNP	C	TCGA-DU-6392-01A-11D-1705-08	21835	3614600	86740153	11390	15006											
DNASE1	1773	broad.mit.edu	37	16	3706173	3706173	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:3706173C>A	ENST00000246949.5	+	4	3516	c.307C>A	c.(307-309)Ctg>Atg	p.L103M	DNASE1_ENST00000414110.2_Silent_p.T23T|DNASE1_ENST00000407479.1_Missense_Mutation_p.L103M	NM_005223.3	NP_005214.2	P24855	DNAS1_HUMAN	deoxyribonuclease I	103					apoptosis|DNA catabolic process	extracellular region|nuclear envelope	actin binding|deoxyribonuclease I activity			lung(1)	1		Ovarian(90;0.0261)		Kidney(780;0.0556)	Dornase Alfa(DB00003)	GGAGCGCTACCTGTTCGTGTA	0.542													13	22					4.3838e-07	5.09097e-07	1	1	0	A	3706173	C	A	3706173	3	1	81	1	0	0	0	0	1	0	0	0	4687	680	24	4	317	4	DNASE1	16	3706173	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	91573	3706173	86648580	11391	15007											
CREBBP	1387	broad.mit.edu	37	16	3781930	3781930	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:3781930C>A	ENST00000262367.5	-	29	5546	c.4737G>T	c.(4735-4737)caG>caT	p.Q1579H	CREBBP_ENST00000382070.3_Missense_Mutation_p.Q1541H	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1579	Interaction with TRERF1.				cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		tgctgtcgCCCTGACTGCCCT	0.572			"T, N, F, Mis, O"	"MLL, MORF, RUNXBP2"	"ALL, AML, DLBCL, B-NHL "		Rubinstein-Taybi syndrome						10	92					2.27111e-07	2.65192e-07	1	1	0	A	3781930	C	A	3781930	3	1	81	1	0	0	0	0	1	0	0	0	3884	680	24	4	2603	4	CREBBP	16	3781930	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	75757	3781930	86572823	11392	15008											
CREBBP	1387	broad.mit.edu	37	16	3786041	3786041	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:3786041G>T	ENST00000262367.5	-	28	5533	c.4724C>A	c.(4723-4725)aCt>aAt	p.T1575N	CREBBP_ENST00000382070.3_Missense_Mutation_p.T1537N	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1575	Interaction with TRERF1.				cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		CTGTACCTCAGTGGTTTCACT	0.542			"T, N, F, Mis, O"	"MLL, MORF, RUNXBP2"	"ALL, AML, DLBCL, B-NHL "		Rubinstein-Taybi syndrome						11	71					1.58986e-06	1.82794e-06	1	1	0	T	3786041	G	T	3786041	3	4	81	1	0	0	0	0	1	0	0	0	3884	1029	36	4	2620	4	CREBBP	16	3786041	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	4111	3786041	86568712	11393	15009											
CREBBP	1387	broad.mit.edu	37	16	3817888	3817888	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:3817888C>T	ENST00000262367.5	-	16	3892	c.3083G>A	c.(3082-3084)gGa>gAa	p.G1028E	CREBBP_ENST00000382070.3_Missense_Mutation_p.G990E	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1028					cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		TTGGGAAGCTCCTTGCAAATC	0.383			"T, N, F, Mis, O"	"MLL, MORF, RUNXBP2"	"ALL, AML, DLBCL, B-NHL "		Rubinstein-Taybi syndrome						47	88					0	0	1	0	0	T	3817888	C	T	3817888	3	4	81	1	0	0	0	0	1	0	0	0	3884	855	30	2	4309	2	CREBBP	16	3817888	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	31847	3817888	86536865	11394	15010											
CREBBP	1387	broad.mit.edu	37	16	3843551	3843551	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:3843551C>T	ENST00000262367.5	-	4	1861	c.1052G>A	c.(1051-1053)cGc>cAc	p.R351H	CREBBP_ENST00000382070.3_Missense_Mutation_p.R351H	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	351	Interaction with SRCAP.				cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		TATCAGTTTGCGTTTTTCAGG	0.468			"T, N, F, Mis, O"	"MLL, MORF, RUNXBP2"	"ALL, AML, DLBCL, B-NHL "		Rubinstein-Taybi syndrome						29	37					0	0	1	0	0	T	3843551	C	T	3843551	3	4	81	1	0	0	0	0	1	0	0	0	3884	768	27	1	6388	1	CREBBP	16	3843551	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	25663	3843551	86511202	11395	15011											
CREBBP	1387	broad.mit.edu	37	16	3929833	3929833	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:3929833C>A	ENST00000262367.5	-	1	894	c.85G>T	c.(85-87)Gat>Tat	p.D29Y	CREBBP_ENST00000382070.3_Splice_Site_p.D29Y	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	29		Breakpoint for translocation to form MYST4-CREBBP.			cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		CCCTCCTCACCTGTGCTGTCA	0.672			"T, N, F, Mis, O"	"MLL, MORF, RUNXBP2"	"ALL, AML, DLBCL, B-NHL "		Rubinstein-Taybi syndrome						7	7					8.12818e-05	8.94031e-05	1	1	0	A	3929833	C	A	3929833	5	1	81	1	0	0	0	0	0	0	1	0	3884	695	24	4	7367	4	CREBBP	16	3929833	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	86282	3929833	86424920	11396	15012											
ADCY9	115	broad.mit.edu	37	16	4027578	4027578	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:4027578G>A	ENST00000294016.3	-	9	3271	c.2733C>T	c.(2731-2733)aaC>aaT	p.N911N		NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	911					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						GCTGGCAGAAGTTACAGTAGT	0.662													8	8					0	0	1	0	0	A	4027578	G	A	4027578	2	1	81	1	0	0	0	0	0	0	0	1	300	1020	36	2		2	ADCY9	16	4027578	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	97745	4027578	86327175	11397	15013											
ADCY9	115	broad.mit.edu	37	16	4029158	4029158	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:4029158C>T	ENST00000294016.3	-	8	3176	c.2638G>A	c.(2638-2640)Gtc>Atc	p.V880I		NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	880					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						TGGGAGTAGACGGCCAGTGCG	0.572													20	44					0	0	1	0	0	T	4029158	C	T	4029158	3	4	81	1	0	0	0	0	1	0	0	0	300	536	19	1	1439	1	ADCY9	16	4029158	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1580	4029158	86325595	11398	15014											
ADCY9	115	broad.mit.edu	37	16	4029188	4029188	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:4029188C>T	ENST00000294016.3	-	8	3146	c.2608G>A	c.(2608-2610)Gcc>Acc	p.A870T		NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	870					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						ACCAGGATGGCCCCGATGCAG	0.582													19	35					0	0	1	0	0	T	4029188	C	T	4029188	3	4	81	1	0	0	0	0	1	0	0	0	300	739	26	2	1469	2	ADCY9	16	4029188	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	30	4029188	86325565	11399	15015											
ADCY9	115	broad.mit.edu	37	16	4163952	4163952	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:4163952C>T	ENST00000294016.3	-	2	2030	c.1492G>A	c.(1492-1494)Ggc>Agc	p.G498S		NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	498	Guanylate cyclase 1.				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						CCCAGGATGCCGCAAAGGACG	0.562													53	84					0	0	1	0	0	T	4163952	C	T	4163952	3	4	81	1	0	0	0	0	1	0	0	0	300	652	23	1	2609	1	ADCY9	16	4163952	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	134764	4163952	86190801	11400	15016											
TFAP4	7023	broad.mit.edu	37	16	4322672	4322672	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:4322672C>A	ENST00000204517.6	-	1	404	c.76G>T	c.(76-78)Gga>Tga	p.G26*		NM_003223.2	NP_003214.1	Q01664	TFAP4_HUMAN	transcription factor AP-4 (activating enhancer binding protein 4)	26					DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation by host of viral transcription|negative regulation of cell cycle arrest|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|regulation of S phase of mitotic cell cycle	transcriptional repressor complex	E-box binding|histone deacetylase binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|endometrium(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	14						CAGAGCCCTCCTATCACTTCT	0.622													6	18					3.59834e-05	3.99423e-05	1	1	0	A	4322672	C	A	4322672	4	1	81	1	0	0	0	0	0	1	0	0	15852	690	24	4	968	4	TFAP4	16	4322672	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	158720	4322672	86032081	11401	15017											
CORO7	79585	broad.mit.edu	37	16	4409612	4409612	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:4409612G>A	ENST00000251166.4	-	22	2264	c.2119C>T	c.(2119-2121)Cgc>Tgc	p.R707C	CORO7_ENST00000574025.1_Missense_Mutation_p.R622C|CORO7_ENST00000539968.1_Missense_Mutation_p.R487C|CORO7_ENST00000537233.2_Missense_Mutation_p.R689C|CORO7-PAM16_ENST00000572467.1_Missense_Mutation_p.R707C	NM_024535.4	NP_078811.3			coronin 7											breast(3)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|prostate(2)|skin(2)|urinary_tract(2)	23						AGCAGCTGGCGCTCACTTTGG	0.652											OREG0023580	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	20					0	0	1	0	0	A	4409612	G	A	4409612	3	1	81	1	0	0	0	0	1	0	0	0	3782	1087	38	1	686	1	CORO7	16	4409612	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	86940	4409612	85945141	11402	15018											
CORO7	79585	broad.mit.edu	37	16	4412704	4412704	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:4412704C>T	ENST00000251166.4	-	15	1456	c.1311G>A	c.(1309-1311)tcG>tcA	p.S437S	CORO7_ENST00000574025.1_Silent_p.S352S|CORO7_ENST00000539968.1_Silent_p.S217S|CORO7_ENST00000537233.2_Silent_p.S419S|CORO7_ENST00000423908.2_Silent_p.S269S|CORO7-PAM16_ENST00000572467.1_Silent_p.S437S	NM_024535.4	NP_078811.3			coronin 7											breast(3)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|prostate(2)|skin(2)|urinary_tract(2)	23						GCGTGGAGGGCGAGGTCAGCG	0.662													12	12					0	0	1	0	0	T	4412704	C	T	4412704	2	4	81	1	0	0	0	0	0	0	0	1	3782	755	27	1		1	CORO7	16	4412704	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3092	4412704	85942049	11403	15019											
DNAJA3	9093	broad.mit.edu	37	16	4487459	4487459	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:4487459G>T	ENST00000262375.6	+	3	479	c.402G>T	c.(400-402)aaG>aaT	p.K134N	DNAJA3_ENST00000355296.4_Missense_Mutation_p.K134N|DNAJA3_ENST00000431375.2_Intron|DNAJA3_ENST00000572139.1_3'UTR	NM_005147.5	NP_005138.3	Q96EY1	DNJA3_HUMAN	DnaJ (Hsp40) homolog, subfamily A, member 3	134	J.				activation of caspase activity|negative regulation of apoptosis|negative regulation of caspase activity|negative regulation of cell proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein kinase activity|neuromuscular junction development|positive regulation of apoptosis|positive regulation of protein ubiquitination|protein folding|protein stabilization|response to heat|response to interferon-gamma	cytosol|mitochondrial matrix|mitochondrial nucleoid|nucleus	ATP binding|heat shock protein binding|interferon-gamma receptor binding|metal ion binding|NF-kappaB binding|protein kinase binding			NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|upper_aerodigestive_tract(2)	15						CCAAGGAGAAGTTCTCCCAGC	0.443													3	28					0.004672	0.00489345	1	1	0	T	4487459	G	T	4487459	3	4	81	1	0	0	0	0	1	0	0	0	4640	1020	36	4	412	4	DNAJA3	16	4487459	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	74755	4487459	85867294	11404	15020											
DNAJA3	9093	broad.mit.edu	37	16	4493049	4493049	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:4493049G>A	ENST00000262375.6	+	6	892	c.815G>A	c.(814-816)cGt>cAt	p.R272H	DNAJA3_ENST00000355296.4_Missense_Mutation_p.R272H|DNAJA3_ENST00000431375.2_Missense_Mutation_p.R119H	NM_005147.5	NP_005138.3	Q96EY1	DNJA3_HUMAN	DnaJ (Hsp40) homolog, subfamily A, member 3	272					activation of caspase activity|negative regulation of apoptosis|negative regulation of caspase activity|negative regulation of cell proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein kinase activity|neuromuscular junction development|positive regulation of apoptosis|positive regulation of protein ubiquitination|protein folding|protein stabilization|response to heat|response to interferon-gamma	cytosol|mitochondrial matrix|mitochondrial nucleoid|nucleus	ATP binding|heat shock protein binding|interferon-gamma receptor binding|metal ion binding|NF-kappaB binding|protein kinase binding			NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|upper_aerodigestive_tract(2)	15						TTTGTGATGCGTTCCACGTGT	0.502													21	38					0	0	1	0	0	A	4493049	G	A	4493049	3	1	81	1	0	0	0	0	1	0	0	0	4640	1145	40	1	837	1	DNAJA3	16	4493049	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	5590	4493049	85861704	11405	15021											
DNAJA3	9093	broad.mit.edu	37	16	4498835	4498835	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:4498835G>T	ENST00000262375.6	+	9	1304	c.1227G>T	c.(1225-1227)aaG>aaT	p.K409N	DNAJA3_ENST00000355296.4_Missense_Mutation_p.K409N|DNAJA3_ENST00000431375.2_Missense_Mutation_p.K256N	NM_005147.5	NP_005138.3	Q96EY1	DNJA3_HUMAN	DnaJ (Hsp40) homolog, subfamily A, member 3	409					activation of caspase activity|negative regulation of apoptosis|negative regulation of caspase activity|negative regulation of cell proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein kinase activity|neuromuscular junction development|positive regulation of apoptosis|positive regulation of protein ubiquitination|protein folding|protein stabilization|response to heat|response to interferon-gamma	cytosol|mitochondrial matrix|mitochondrial nucleoid|nucleus	ATP binding|heat shock protein binding|interferon-gamma receptor binding|metal ion binding|NF-kappaB binding|protein kinase binding			NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|upper_aerodigestive_tract(2)	15						TCCACATCAAGATACGAGTTC	0.592													3	12					6.4e-05	7.07494e-05	1	1	0	T	4498835	G	T	4498835	3	4	81	1	0	0	0	0	1	0	0	0	4640	933	33	4	1261	4	DNAJA3	16	4498835	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	5786	4498835	85855918	11406	15022											
NUDT16L1	84309	broad.mit.edu	37	16	4745007	4745007	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:4745007G>A	ENST00000586536.1	+	3	553	c.533G>A	c.(532-534)cGg>cAg	p.R178Q	NUDT16L1_ENST00000405142.1_3'UTR|NUDT16L1_ENST00000586252.1_Intron|NUDT16L1_ENST00000304301.6_Missense_Mutation_p.G155R	NM_001193452.1	NP_001180381.1	Q9BRJ7	SDOS_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 16-like 1	0	Interaction with PXN (By similarity).					cytoplasm	hydrolase activity			endometrium(1)|large_intestine(1)|lung(1)|skin(1)	4						GGACCGAGTCGGAGGCTTCCC	0.632													14	28					0	0	1	0	0	A	4745007	G	A	4745007	3	1	81	1	0	0	0	0	1	0	0	0	10781	1117	39	1	473	1	NUDT16L1	16	4745007	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	246172	4745007	85609746	11407	15023											
C16orf71	146562	broad.mit.edu	37	16	4794893	4794893	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:4794893C>T	ENST00000299320.5	+	6	1402	c.924C>T	c.(922-924)caC>caT	p.H308H	C16orf71_ENST00000590191.1_Silent_p.H322H|RP11-127I20.7_ENST00000588099.1_RNA	NM_139170.2	NP_631909.2	Q8IYS4	CP071_HUMAN	chromosome 16 open reading frame 71	308										breast(1)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1)	11						CGAGCGCCCACAACAGGCTCA	0.622													11	21					0	0	1	0	0	T	4794893	C	T	4794893	2	4	81	1	0	0	0	0	0	0	0	1	1837	477	17	2		2	C16orf71	16	4794893	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	49886	4794893	85559860	11408	15024											
UBN1	29855	broad.mit.edu	37	16	4909942	4909942	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:4909942C>T	ENST00000396658.4	+	5	1347	c.644C>T	c.(643-645)tCg>tTg	p.S215L	UBN1_ENST00000262376.6_Missense_Mutation_p.S215L|UBN1_ENST00000545171.1_Missense_Mutation_p.S215L|UBN1_ENST00000590769.1_Missense_Mutation_p.S215L	NM_016936.3	NP_058632.2	Q9NPG3	UBN1_HUMAN	ubinuclein 1	215	Lys-rich.				chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter	PML body|tight junction	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						GAGAAGAAATCGAAAAAGTCC	0.453													15	36					0	0	1	0	0	T	4909942	C	T	4909942	3	4	81	1	0	0	0	0	1	0	0	0	16953	893	31	1	662	1	UBN1	16	4909942	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	115049	4909942	85444811	11409	15025											
UBN1	29855	broad.mit.edu	37	16	4925419	4925419	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:4925419C>T	ENST00000396658.4	+	14	3711	c.3008C>T	c.(3007-3009)tCg>tTg	p.S1003L	UBN1_ENST00000262376.6_Missense_Mutation_p.S1003L|UBN1_ENST00000545171.1_Missense_Mutation_p.S1003L|UBN1_ENST00000590769.1_Missense_Mutation_p.S1003L	NM_016936.3	NP_058632.2	Q9NPG3	UBN1_HUMAN	ubinuclein 1	1003	Ser-rich.				chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter	PML body|tight junction	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						AGTGTGACATCGTCTACCTCC	0.597													31	56					0	0	1	0	0	T	4925419	C	T	4925419	3	4	81	1	0	0	0	0	1	0	0	0	16953	893	31	1	3062	1	UBN1	16	4925419	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	15477	4925419	85429334	11410	15026											
PPL	5493	broad.mit.edu	37	16	4933512	4933512	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:4933512G>T	ENST00000345988.2	-	22	5233	c.5144C>A	c.(5143-5145)tCt>tAt	p.S1715Y	PPL_ENST00000590782.2_Missense_Mutation_p.S1713Y	NM_002705.4	NP_002696	O60437	PEPL_HUMAN	periplakin	1715					keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						CTTCTTGCCAGACTTCCTGTC	0.542													23	28					3.6726e-16	4.70534e-16	1	1	0	T	4933512	G	T	4933512	3	4	81	1	0	0	0	0	1	0	0	0	12383	942	33	4	130	4	PPL	16	4933512	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	8093	4933512	85421241	11411	15027											
PPL	5493	broad.mit.edu	37	16	4934269	4934269	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:4934269G>A	ENST00000345988.2	-	22	4476	c.4387C>T	c.(4387-4389)Cga>Tga	p.R1463*	PPL_ENST00000590782.2_Nonsense_Mutation_p.R1461*	NM_002705.4	NP_002696	O60437	PEPL_HUMAN	periplakin	1463					keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						AGCTGGAGTCGGAGCAGGGCA	0.647													8	81					0	0	1	0	0	A	4934269	G	A	4934269	4	1	81	1	0	0	0	0	0	1	0	0	12383	1124	39	1	887	1	PPL	16	4934269	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	757	4934269	85420484	11412	15028											
SEC14L5	9717	broad.mit.edu	37	16	5046882	5046882	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:5046882G>A	ENST00000251170.7	+	8	987	c.807G>A	c.(805-807)cgG>cgA	p.R269R		NM_014692.1	NP_055507.1	O43304	S14L5_HUMAN	SEC14-like 5 (S. cerevisiae)	269						integral to membrane|intracellular	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|skin(1)	29						ACATCCTTCGGTTCCTGCGGG	0.542													14	18					0	0	1	0	0	A	5046882	G	A	5046882	2	1	81	1	0	0	0	0	0	0	0	1	14039	1248	44	2		2	SEC14L5	16	5046882	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	112613	5046882	85307871	11413	15029											
NAGPA	51172	broad.mit.edu	37	16	5078081	5078081	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:5078081G>A	ENST00000312251.3	-	6	1045	c.1026C>T	c.(1024-1026)gaC>gaT	p.D342D	NAGPA_ENST00000381955.3_Silent_p.D342D|RP11-165E7.1_ENST00000588778.1_RNA	NM_016256.3	NP_057340.2	Q9UK23	NAGPA_HUMAN	N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase	342					carbohydrate metabolic process|lysosome organization|protein modification process|protein targeting to lysosome	Golgi cisterna membrane|integral to membrane	N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase activity			endometrium(4)|large_intestine(4)|lung(3)|urinary_tract(1)	12					N-Acetyl-D-glucosamine(DB00141)	GGCAGTGCCCGTCCACGCAGG	0.672													4	12					0	0	1	0	0	A	5078081	G	A	5078081	2	1	81	1	0	0	0	0	0	0	0	1	10192	1136	40	1		1	NAGPA	16	5078081	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	31199	5078081	85276672	11414	15030											
USP7	7874	broad.mit.edu	37	16	8988700	8988700	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:8988700G>A	ENST00000344836.4	-	29	3250	c.3052C>T	c.(3052-3054)Cga>Tga	p.R1018*	USP7_ENST00000535863.1_Nonsense_Mutation_p.R919*|USP7_ENST00000381886.4_Nonsense_Mutation_p.R1002*	NM_003470.2	NP_003461.2	Q93009	UBP7_HUMAN	ubiquitin specific peptidase 7 (herpes virus-associated)	1018					interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process	cytoplasm|PML body	cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	48						ATCACTTCTCGAAAATGCTCG	0.592													42	58					0	0	1	0	0	A	8988700	G	A	8988700	4	1	81	1	0	0	0	0	0	1	0	0	17148	1066	37	1	268	1	USP7	16	8988700	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	3910619	8988700	81366053	11415	15031											
USP7	7874	broad.mit.edu	37	16	8998370	8998370	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:8998370C>A	ENST00000344836.4	-	15	1824	c.1626G>T	c.(1624-1626)gaG>gaT	p.E542D	USP7_ENST00000535863.1_Missense_Mutation_p.E443D|USP7_ENST00000381886.4_Missense_Mutation_p.E526D	NM_003470.2	NP_003461.2	Q93009	UBP7_HUMAN	ubiquitin specific peptidase 7 (herpes virus-associated)	542					interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process	cytoplasm|PML body	cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	48						CTTGTAATCGCTCCACCAACT	0.547													37	31					1.67305e-13	2.11067e-13	1	1	0	A	8998370	C	A	8998370	3	1	81	1	0	0	0	0	1	0	0	0	17148	796	28	4	1750	4	USP7	16	8998370	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	9670	8998370	81356383	11416	15032											
USP7	7874	broad.mit.edu	37	16	9004625	9004625	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:9004625C>T	ENST00000344836.4	-	11	1336	c.1138G>A	c.(1138-1140)Gac>Aac	p.D380N	USP7_ENST00000535863.1_Missense_Mutation_p.D281N|USP7_ENST00000381886.4_Missense_Mutation_p.D364N	NM_003470.2	NP_003461.2	Q93009	UBP7_HUMAN	ubiquitin specific peptidase 7 (herpes virus-associated)	380					interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process	cytoplasm|PML body	cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	48						TCCCCAGCGTCGTATTTATTG	0.363													29	28					0	0	1	0	0	T	9004625	C	T	9004625	3	4	81	1	0	0	0	0	1	0	0	0	17148	884	31	1	2254	1	USP7	16	9004625	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	6255	9004625	81350128	11417	15033											
USP7	7874	broad.mit.edu	37	16	9010900	9010901	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:9010900_9010901insT	ENST00000344836.4	-	7	1031_1032	c.833_834insA	c.(832-834)aagfs	p.K278fs	USP7_ENST00000535863.1_Frame_Shift_Ins_p.K179fs|USP7_ENST00000381886.4_Frame_Shift_Ins_p.K262fs	NM_003470.2	NP_003461.2	Q93009	UBP7_HUMAN	ubiquitin specific peptidase 7 (herpes virus-associated)	278					interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process	cytoplasm|PML body	cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	48						ACTTTGTTAACTTTTTTGTTCC	0.361													33	89	---	---	---	---						T	9010901	-	T	9010900	7	5	81	1	0	1	1	0	0	0	0	0	17148	564	20	0	2574	0	USP7	16	9010900	Frame_Shift_Ins	INS	-	TCGA-DU-6392-01A-11D-1705-08	6275	9010900	81343853	11418	15034											
GRIN2A	2903	broad.mit.edu	37	16	9857312	9857312	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:9857312G>A	ENST00000396573.2	-	14	4398	c.4089C>T	c.(4087-4089)tcC>tcT	p.S1363S	GRIN2A_ENST00000330684.3_Silent_p.S1363S|GRIN2A_ENST00000404927.2_Intron|GRIN2A_ENST00000562109.1_Intron|GRIN2A_ENST00000535259.1_Intron|GRIN2A_ENST00000396575.2_Silent_p.S1363S	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	1363					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	p.S1363S(1)		NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	AAGGGTTATCGGAGGTGTGGT	0.557													24	38					0	0	1	0	0	A	9857312	G	A	9857312	2	1	81	1	0	0	0	0	0	0	0	1	6820	1103	39	1		1	GRIN2A	16	9857312	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	846412	9857312	80497441	11419	15035											
EMP2	2013	broad.mit.edu	37	16	10626797	10626797	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:10626797C>T	ENST00000359543.3	-	5	678	c.469G>A	c.(469-471)Ggc>Agc	p.G157S	EMP2_ENST00000536829.1_Missense_Mutation_p.G157S	NM_001424.4	NP_001415.1	P54851	EMP2_HUMAN	epithelial membrane protein 2	157					cell proliferation	integral to membrane				NS(1)|endometrium(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	6						TACATCATGCCGCTGATGAAG	0.502													6	59					0	0	1	0	0	T	10626797	C	T	10626797	3	4	81	1	0	0	0	0	1	0	0	0	5130	652	23	1	38	1	EMP2	16	10626797	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	769485	10626797	79727956	11420	15036											
TEKT5	146279	broad.mit.edu	37	16	10721459	10721459	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:10721459C>T	ENST00000283025.2	-	7	1510	c.1439G>A	c.(1438-1440)cGc>cAc	p.R480H	TEKT5_ENST00000574923.1_5'UTR	NM_144674.1	NP_653275.1	Q96M29	TEKT5_HUMAN	tektin 5	480					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)	34						GCCCACCAGGCGCGGGGTGCA	0.567													34	63					0	0	1	0	0	T	10721459	C	T	10721459	3	4	81	1	0	0	0	0	1	0	0	0	15815	768	27	1	22	1	TEKT5	16	10721459	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	94662	10721459	79633294	11421	15037											
TEKT5	146279	broad.mit.edu	37	16	10775890	10775890	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:10775890A>T	ENST00000283025.2	-	4	894	c.823T>A	c.(823-825)Tgc>Agc	p.C275S		NM_144674.1	NP_653275.1	Q96M29	TEKT5_HUMAN	tektin 5	275					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)	34						AAGCTGATGCAGTCTGACGTA	0.542													72	95					0	0	1	0	0	T	10775890	A	T	10775890	3	4	81	1	0	0	0	0	1	0	0	0	15815	188	7	5	650	5	TEKT5	16	10775890	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	54431	10775890	79578863	11422	15038											
CLEC16A	23274	broad.mit.edu	37	16	11066886	11066886	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:11066886C>T	ENST00000409790.1	+	7	926	c.696C>T	c.(694-696)atC>atT	p.I232I	CLEC16A_ENST00000409552.3_Silent_p.I230I	NM_015226.2	NP_056041.1	Q2KHT3	CL16A_HUMAN	C-type lectin domain family 16, member A	232										breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						GCCATGTGATCGAACTCGATG	0.483													11	8					0	0	1	0	0	T	11066886	C	T	11066886	2	4	81	1	0	0	0	0	0	0	0	1	3523	874	31	1		1	CLEC16A	16	11066886	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	290996	11066886	79287867	11423	15039											
CLEC16A	23274	broad.mit.edu	37	16	11219841	11219841	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:11219841C>A	ENST00000409790.1	+	22	2709	c.2479C>A	c.(2479-2481)Ctg>Atg	p.L827M	CLEC16A_ENST00000409552.3_Missense_Mutation_p.L809M	NM_015226.2	NP_056041.1	Q2KHT3	CL16A_HUMAN	C-type lectin domain family 16, member A	827								p.0?(1)		breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						CGTAGCCCTCCTGGACCTCCC	0.607													24	231					2.79863e-10	3.42042e-10	1	1	0	A	11219841	C	A	11219841	3	1	81	1	0	0	0	0	1	0	0	0	3523	680	24	4	2561	4	CLEC16A	16	11219841	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	152955	11219841	79134912	11424	15040											
SNN	8303	broad.mit.edu	37	16	11769944	11769944	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:11769944C>T	ENST00000329565.5	+	2	241	c.29C>T	c.(28-30)aCg>aTg	p.T10M		NM_003498.5	NP_003489.1	O75324	SNN_HUMAN	stannin	10					response to abiotic stimulus|response to stress	integral to membrane|mitochondrial outer membrane				endometrium(1)	1						AGCCCCACCACGGGCGTGGTC	0.637													14	21					0	0	1	0	0	T	11769944	C	T	11769944	3	4	81	1	0	0	0	0	1	0	0	0	14903	536	19	1	31	1	SNN	16	11769944	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	550103	11769944	78584809	11425	15041											
SNN	8303	broad.mit.edu	37	16	11770176	11770176	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:11770176C>T	ENST00000329565.5	+	2	473	c.261C>T	c.(259-261)caC>caT	p.H87H		NM_003498.5	NP_003489.1	O75324	SNN_HUMAN	stannin	87					response to abiotic stimulus|response to stress	integral to membrane|mitochondrial outer membrane				endometrium(1)	1						CGGAAGTCCACGGCTGAGCCA	0.622													13	18					0	0	1	0	0	T	11770176	C	T	11770176	2	4	81	1	0	0	0	0	0	0	0	1	14903	535	19	1		1	SNN	16	11770176	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	232	11770176	78584577	11426	15042											
TXNDC11	51061	broad.mit.edu	37	16	11785171	11785171	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:11785171C>T	ENST00000356957.3	-	9	2063	c.1956G>A	c.(1954-1956)aaG>aaA	p.K652K	TXNDC11_ENST00000283033.5_Silent_p.K625K			Q6PKC3	TXD11_HUMAN	thioredoxin domain containing 11	652	Thioredoxin 2.				cell redox homeostasis	endoplasmic reticulum membrane|integral to membrane				endometrium(3)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						TCAGTGCTTGCTTTGGATCCA	0.428													32	46					0	0	1	0	0	T	11785171	C	T	11785171	2	4	81	1	0	0	0	0	0	0	0	1	16854	796	28	2		2	TXNDC11	16	11785171	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	14995	11785171	78569582	11427	15043											
ZC3H7A	29066	broad.mit.edu	37	16	11846564	11846564	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:11846564T>C	ENST00000396516.2	-	21	2884	c.2687A>G	c.(2686-2688)cAg>cGg	p.Q896R	ZC3H7A_ENST00000575984.1_Missense_Mutation_p.Q92R|ZC3H7A_ENST00000355758.4_Missense_Mutation_p.Q896R			Q8IWR0	Z3H7A_HUMAN	zinc finger CCCH-type containing 7A	896						nucleus	nucleic acid binding|zinc ion binding			breast(2)|endometrium(3)|kidney(5)|large_intestine(2)|liver(1)|lung(3)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(2)	25						GAAGCGGTGCTGCCAGCAGTA	0.468													30	41					0	0	1	0	0	C	11846564	T	C	11846564	3	2	81	1	0	0	0	0	1	0	0	0	17631	1580	55	3	236	3	ZC3H7A	16	11846564	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	61393	11846564	78508189	11428	15044											
ZC3H7A	29066	broad.mit.edu	37	16	11861426	11861426	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:11861426A>G	ENST00000396516.2	-	12	1566	c.1369T>C	c.(1369-1371)Tta>Cta	p.L457L	ZC3H7A_ENST00000355758.4_Silent_p.L457L			Q8IWR0	Z3H7A_HUMAN	zinc finger CCCH-type containing 7A	457						nucleus	nucleic acid binding|zinc ion binding			breast(2)|endometrium(3)|kidney(5)|large_intestine(2)|liver(1)|lung(3)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(2)	25						AAATCCATTAACTTAGGGCCT	0.294													6	73					0	0	1	0	0	G	11861426	A	G	11861426	2	3	81	1	0	0	0	0	0	0	0	1	17631	40	2	3		3	ZC3H7A	16	11861426	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	14862	11861426	78493327	11429	15045											
GSPT1	2935	broad.mit.edu	37	16	11981501	11981501	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:11981501G>T	ENST00000434724.2	-	7	1082	c.883C>A	c.(883-885)Cta>Ata	p.L295I	GSPT1_ENST00000420576.2_Missense_Mutation_p.L157I|GSPT1_ENST00000563468.1_Missense_Mutation_p.L157I|RP11-166B2.8_ENST00000574364.1_RNA|GSPT1_ENST00000439887.2_Missense_Mutation_p.L294I	NM_001130006.1|NM_002094.3	NP_001123478.1|NP_002085	P15170	ERF3A_HUMAN	G1 to S phase transition 1	157					G1/S transition of mitotic cell cycle|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|protein methylation	intracellular	GTP binding|GTPase activity|protein binding|translation release factor activity			breast(1)|central_nervous_system(1)|kidney(4)|lung(4)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	14						GGGGCATCTAGAATTGTGAAA	0.448													12	124					0.000151284	0.000165917	1	1	0	T	11981501	G	T	11981501	3	4	81	1	0	0	0	0	1	0	0	0	6867	933	33	4	1066	4	GSPT1	16	11981501	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	120075	11981501	78373252	11430	15046											
TNFRSF17	608	broad.mit.edu	37	16	12061576	12061576	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:12061576T>C	ENST00000053243.1	+	3	645	c.427T>C	c.(427-429)Tgc>Cgc	p.C143R	TNFRSF17_ENST00000396495.3_Missense_Mutation_p.C94R|RP11-166B2.1_ENST00000532936.1_Intron	NM_001192.2	NP_001183.2	Q02223	TNR17_HUMAN	tumor necrosis factor receptor superfamily, member 17	143					cell proliferation|multicellular organismal development	endomembrane system|integral to membrane|plasma membrane				large_intestine(3)|lung(3)	6						CTCTGACCATTGCTTTCCACT	0.502			T	IL2	intestinal T-cell lymphoma								15	53					0	0	1	0	0	C	12061576	T	C	12061576	3	2	81	1	0	0	0	0	1	0	0	0	16350	1812	63	3	437	3	TNFRSF17	16	12061576	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	80075	12061576	78293177	11431	15047											
ERCC4	2072	broad.mit.edu	37	16	14029554	14029554	+	Missense_Mutation	SNP	C	C	T	rs147105770	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:14029554C>T	ENST00000311895.7	+	8	1774	c.1765C>T	c.(1765-1767)Cgg>Tgg	p.R589W		NM_005236.2	NP_005227.1	Q92889	XPF_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 4	589					double-strand break repair via homologous recombination|meiotic mismatch repair|negative regulation of telomere maintenance|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|nucleotide-excision repair, DNA incision, 5'-to lesion|resolution of meiotic recombination intermediates|telomere maintenance via telomere shortening|transcription-coupled nucleotide-excision repair	nuclear chromosome, telomeric region|nucleoplasm|nucleotide-excision repair factor 1 complex	damaged DNA binding|protein C-terminus binding|protein N-terminus binding|single-stranded DNA binding|single-stranded DNA specific endodeoxyribonuclease activity	p.R589W(1)		NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(5)|lung(12)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	38						AACCTTTGTTCGGCAGCTTGA	0.478			"Mis, N, F"			"skin basal cell, skin squamous cell, melanoma"		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				35	50					0	0	1	0	0	T	14029554	C	T	14029554	3	4	81	1	0	0	0	0	1	0	0	0	5243	875	31	1	1795	1	ERCC4	16	14029554	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1967978	14029554	76325199	11432	15048											
MKL2	57496	broad.mit.edu	37	16	14307467	14307467	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:14307467C>T	ENST00000571589.1	+	6	514	c.342C>T	c.(340-342)caC>caT	p.H114H	MKL2_ENST00000574045.1_Silent_p.H114H|MKL2_ENST00000573051.1_Silent_p.H63H|MKL2_ENST00000572567.1_Silent_p.H103H|MKL2_ENST00000318282.5_Silent_p.H114H|MKL2_ENST00000341243.5_Silent_p.H103H	NM_014048.3	NP_054767.3	Q9ULH7	MKL2_HUMAN	MKL/myocardin-like 2	103					cell differentiation|muscle organ development|positive regulation of striated muscle tissue development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		identical protein binding|nucleic acid binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TCAGGATGCACATTTTAGAAG	0.303													33	58					0	0	1	0	0	T	14307467	C	T	14307467	2	4	81	1	0	0	0	0	0	0	0	1	9650	477	17	2		2	MKL2	16	14307467	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	277913	14307467	76047286	11433	15049											
MKL2	57496	broad.mit.edu	37	16	14341010	14341010	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:14341010C>T	ENST00000571589.1	+	12	2065	c.1893C>T	c.(1891-1893)caC>caT	p.H631H	MKL2_ENST00000574045.1_Silent_p.H631H|MKL2_ENST00000318282.5_Silent_p.H631H|MKL2_ENST00000341243.5_Silent_p.H620H	NM_014048.3	NP_054767.3	Q9ULH7	MKL2_HUMAN	MKL/myocardin-like 2	620					cell differentiation|muscle organ development|positive regulation of striated muscle tissue development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		identical protein binding|nucleic acid binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						ATCAGAAGCACGGCAGCCTTG	0.602													15	28					0	0	1	0	0	T	14341010	C	T	14341010	2	4	81	1	0	0	0	0	0	0	0	1	9650	535	19	1		1	MKL2	16	14341010	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	33543	14341010	76013743	11434	15050											
MKL2	57496	broad.mit.edu	37	16	14342792	14342792	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:14342792C>T	ENST00000571589.1	+	13	2429	c.2257C>T	c.(2257-2259)Caa>Taa	p.Q753*	MKL2_ENST00000574045.1_Nonsense_Mutation_p.Q703*|MKL2_ENST00000318282.5_Nonsense_Mutation_p.Q703*|MKL2_ENST00000341243.5_Nonsense_Mutation_p.Q742*	NM_014048.3	NP_054767.3	Q9ULH7	MKL2_HUMAN	MKL/myocardin-like 2	742	Gln-rich.				cell differentiation|muscle organ development|positive regulation of striated muscle tissue development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		identical protein binding|nucleic acid binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GACTTCACCACAAGCAGGAAT	0.448													19	45					0	0	1	0	0	T	14342792	C	T	14342792	4	4	81	1	0	0	0	0	0	1	0	0	9650	479	17	2	2149	2	MKL2	16	14342792	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1782	14342792	76011961	11435	15051											
MKL2	57496	broad.mit.edu	37	16	14354843	14354843	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:14354843C>T	ENST00000571589.1	+	17	3014	c.2842C>T	c.(2842-2844)Cca>Tca	p.P948S	MKL2_ENST00000574045.1_Missense_Mutation_p.P898S|MKL2_ENST00000318282.5_Missense_Mutation_p.P898S|MKL2_ENST00000341243.5_Missense_Mutation_p.P937S	NM_014048.3	NP_054767.3	Q9ULH7	MKL2_HUMAN	MKL/myocardin-like 2	937					cell differentiation|muscle organ development|positive regulation of striated muscle tissue development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		identical protein binding|nucleic acid binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CACCACAATGCCAGTGAATAC	0.458													42	59					0	0	1	0	0	T	14354843	C	T	14354843	3	4	81	1	0	0	0	0	1	0	0	0	9650	739	26	2	2750	2	MKL2	16	14354843	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	12051	14354843	75999910	11436	15052											
BFAR	51283	broad.mit.edu	37	16	14743744	14743744	+	Silent	SNP	G	G	A	rs142851831		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:14743744G>A	ENST00000261658.2	+	4	829	c.552G>A	c.(550-552)gcG>gcA	p.A184A	BFAR_ENST00000563971.1_Intron|BFAR_ENST00000426842.2_Silent_p.A56A	NM_016561.2	NP_057645.1	Q9NZS9	BFAR_HUMAN	bifunctional apoptosis regulator	184	SAM.				anti-apoptosis|apoptosis	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction	structural molecule activity|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)	11						AATGGACGGCGGAAGAAGTTG	0.537													23	31					0	0	1	0	0	A	14743744	G	A	14743744	2	1	81	1	0	0	0	0	0	0	0	1	1413	1103	39	1		1	BFAR	16	14743744	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	388901	14743744	75611009	11437	15053											
BFAR	51283	broad.mit.edu	37	16	14761613	14761613	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:14761613T>C	ENST00000261658.2	+	8	1559	c.1282T>C	c.(1282-1284)Tac>Cac	p.Y428H	BFAR_ENST00000563082.1_3'UTR|BFAR_ENST00000563971.1_Missense_Mutation_p.Y303H|BFAR_ENST00000426842.2_Missense_Mutation_p.Y300H	NM_016561.2	NP_057645.1	Q9NZS9	BFAR_HUMAN	bifunctional apoptosis regulator	428					anti-apoptosis|apoptosis	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction	structural molecule activity|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)	11						CTGGGCCCTGTACTTTAACCC	0.493													56	73					0	0	1	0	0	C	14761613	T	C	14761613	3	2	81	1	0	0	0	0	1	0	0	0	1413	1638	57	3	1308	3	BFAR	16	14761613	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	17869	14761613	75593140	11438	15054											
NOMO1	23420	broad.mit.edu	37	16	14962439	14962439	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:14962439T>C	ENST00000287667.7	+	16	2012	c.1841T>C	c.(1840-1842)gTg>gCg	p.V614A		NM_014287.3	NP_055102.3	Q15155	NOMO1_HUMAN	NODAL modulator 1	614						integral to membrane	carbohydrate binding|carboxypeptidase activity|protein binding			endometrium(6)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|skin(2)	30						CGTGAGAATGTGGGGATTTAT	0.403													11	143					0	0	1	0	0	C	14962439	T	C	14962439	3	2	81	1	0	0	0	0	1	0	0	0	10578	1696	59	3	1903	3	NOMO1	16	14962439	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	200826	14962439	75392314	11439	15055											
NOMO1	23420	broad.mit.edu	37	16	14969012	14969012	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:14969012G>A	ENST00000287667.7	+	19	2345	c.2174G>A	c.(2173-2175)gGc>gAc	p.G725D		NM_014287.3	NP_055102.3	Q15155	NOMO1_HUMAN	NODAL modulator 1	725						integral to membrane	carbohydrate binding|carboxypeptidase activity|protein binding			endometrium(6)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|skin(2)	30						GAGAAAAACGGCAATGAGGAA	0.582													6	156					0	0	1	0	0	A	14969012	G	A	14969012	3	1	81	1	0	0	0	0	1	0	0	0	10578	1203	42	2	2248	2	NOMO1	16	14969012	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	6573	14969012	75385741	11440	15056											
PDXDC1	23042	broad.mit.edu	37	16	15100279	15100279	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:15100279G>A	ENST00000396410.4	+	6	515	c.418G>A	c.(418-420)Gaa>Aaa	p.E140K	PDXDC1_ENST00000325823.7_Missense_Mutation_p.E125K|PDXDC1_ENST00000563679.1_Missense_Mutation_p.E158K|PDXDC1_ENST00000450288.2_Missense_Mutation_p.E112K|PDXDC1_ENST00000455313.2_Missense_Mutation_p.E140K|PDXDC1_ENST00000447912.2_Missense_Mutation_p.E49K|PDXDC1_ENST00000569715.1_Missense_Mutation_p.E113K|PDXDC1_ENST00000535621.2_Missense_Mutation_p.E140K	NM_015027.2	NP_055842.2	Q6P996	PDXD1_HUMAN	pyridoxal-dependent decarboxylase domain containing 1	140					carboxylic acid metabolic process		carboxy-lyase activity|protein binding|pyridoxal phosphate binding			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(10)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					Pyridoxal Phosphate(DB00114)	TTATTTCCACGAAGAGGAAAG	0.343													28	162					0	0	1	0	0	A	15100279	G	A	15100279	3	1	81	1	0	0	0	0	1	0	0	0	11743	1059	37	1	440	1	PDXDC1	16	15100279	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	131267	15100279	75254474	11441	15057											
PDXDC1	23042	broad.mit.edu	37	16	15103568	15103568	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:15103568G>T	ENST00000396410.4	+	8	776	c.679G>T	c.(679-681)Gat>Tat	p.D227Y	PDXDC1_ENST00000325823.7_Missense_Mutation_p.D212Y|PDXDC1_ENST00000563679.1_Missense_Mutation_p.D245Y|PDXDC1_ENST00000450288.2_Missense_Mutation_p.D199Y|PDXDC1_ENST00000455313.2_Missense_Mutation_p.D204Y|PDXDC1_ENST00000447912.2_Missense_Mutation_p.D136Y|PDXDC1_ENST00000569715.1_Missense_Mutation_p.D200Y|PDXDC1_ENST00000535621.2_Missense_Mutation_p.D227Y	NM_015027.2	NP_055842.2	Q6P996	PDXD1_HUMAN	pyridoxal-dependent decarboxylase domain containing 1	227					carboxylic acid metabolic process		carboxy-lyase activity|protein binding|pyridoxal phosphate binding			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(10)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					Pyridoxal Phosphate(DB00114)	ACTGATTAAAGATGATATAGA	0.388													5	119					0.0215528	0.0221217	1	1	0	T	15103568	G	T	15103568	3	4	81	1	0	0	0	0	1	0	0	0	11743	942	33	4	709	4	PDXDC1	16	15103568	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	3289	15103568	75251185	11442	15058											
C16orf45	89927	broad.mit.edu	37	16	15680614	15680614	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:15680614G>A	ENST00000300006.4	+	6	902	c.543G>A	c.(541-543)aaG>aaA	p.K181K	C16orf45_ENST00000566490.1_3'UTR|C16orf45_ENST00000452191.2_Silent_p.K164K|C16orf45_ENST00000565913.1_3'UTR	NM_033201.2	NP_149978.1	Q96MC5	CP045_HUMAN	chromosome 16 open reading frame 45	181										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)	11						CACCTAGCAAGCCCACGGTGG	0.632													6	8					0	0	1	0	0	A	15680614	G	A	15680614	2	1	81	1	0	0	0	0	0	0	0	1	1821	962	34	2		2	C16orf45	16	15680614	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	577046	15680614	74674139	11443	15059											
KIAA0430	9665	broad.mit.edu	37	16	15706483	15706483	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:15706483C>A	ENST00000396368.3	-	17	3611	c.3405G>T	c.(3403-3405)caG>caT	p.Q1135H	KIAA0430_ENST00000602337.1_Missense_Mutation_p.Q1132H|KIAA0430_ENST00000344181.3_Missense_Mutation_p.Q737H|KIAA0430_ENST00000540441.2_Missense_Mutation_p.Q970H|KIAA0430_ENST00000548025.1_Missense_Mutation_p.Q1132H|KIAA0430_ENST00000551742.1_Missense_Mutation_p.Q1135H	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	LKAP_HUMAN	KIAA0430	1134						peroxisome	nucleotide binding|RNA binding			breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						ACACTCGGCACTGCTTTGCAA	0.443													8	182					0.00621372	0.00649472	1	1	0	A	15706483	C	A	15706483	3	1	81	1	0	0	0	0	1	0	0	0	8219	564	20	4	1867	4	KIAA0430	16	15706483	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	25869	15706483	74648270	11444	15060											
MYH11	4629	broad.mit.edu	37	16	15814801	15814801	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:15814801T>G	ENST00000452625.2	-	34	4794	c.4707A>C	c.(4705-4707)aaA>aaC	p.K1569N	NDE1_ENST00000396355.1_Intron|MYH11_ENST00000300036.5_Missense_Mutation_p.K1562N|MYH11_ENST00000576790.2_Missense_Mutation_p.K1562N|MYH11_ENST00000396324.3_Missense_Mutation_p.K1569N|NDE1_ENST00000396354.1_Intron|NDE1_ENST00000342673.5_Intron	NM_001040113.1	NP_001035202.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	1562					axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						CCAGCCGCAGTTTGGCGTCCT	0.602			T	CBFB	AML								30	72					0	0	1	0	0	G	15814801	T	G	15814801	3	3	81	1	0	0	0	0	1	0	0	0	10079	1722	60	5	1303	5	MYH11	16	15814801	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	108318	15814801	74539952	11445	15061											
MYH11	4629	broad.mit.edu	37	16	15814828	15814828	+	Silent	SNP	G	G	A	rs141031021	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:15814828G>A	ENST00000452625.2	-	34	4767	c.4680C>T	c.(4678-4680)gaC>gaT	p.D1560D	NDE1_ENST00000396355.1_Intron|MYH11_ENST00000300036.5_Silent_p.D1553D|MYH11_ENST00000576790.2_Silent_p.D1553D|MYH11_ENST00000396324.3_Silent_p.D1560D|NDE1_ENST00000396354.1_Intron|NDE1_ENST00000342673.5_Intron	NM_001040113.1	NP_001035202.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	1553					axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						CTTGCAGCTCGTCCTCCAGCT	0.632			T	CBFB	AML								28	70					0	0	1	0	0	A	15814828	G	A	15814828	2	1	81	1	0	0	0	0	0	0	0	1	10079	1136	40	1		1	MYH11	16	15814828	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	27	15814828	74539925	11446	15062											
ABCC1	4363	broad.mit.edu	37	16	16101790	16101790	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:16101790T>C	ENST00000399408.2	+	2	341	c.166T>C	c.(166-168)Tat>Cat	p.Y56H	ABCC1_ENST00000351154.5_Missense_Mutation_p.Y56H|ABCC1_ENST00000349029.5_Missense_Mutation_p.Y56H|ABCC1_ENST00000345148.5_Missense_Mutation_p.Y56H|ABCC1_ENST00000399410.3_Missense_Mutation_p.Y56H|ABCC1_ENST00000346370.5_Missense_Mutation_p.Y56H			P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 1	56					hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	CTACTTCCTCTATCTCTCCCG	0.522													30	50					0	0	1	0	0	C	16101790	T	C	16101790	3	2	81	1	0	0	0	0	1	0	0	0	49	1522	53	3	172	3	ABCC1	16	16101790	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	286962	16101790	74252963	11447	15063											
ABCC1	4363	broad.mit.edu	37	16	16146596	16146596	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:16146596G>A	ENST00000399408.2	+	11	1571	c.1396G>A	c.(1396-1398)Gtc>Atc	p.V466I	ABCC1_ENST00000351154.5_Missense_Mutation_p.V466I|ABCC1_ENST00000349029.5_Missense_Mutation_p.V466I|ABCC1_ENST00000345148.5_Missense_Mutation_p.V466I|ABCC1_ENST00000399410.3_Missense_Mutation_p.V466I|ABCC1_ENST00000346370.5_Missense_Mutation_p.V466I			P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 1	466	ABC transmembrane type-1 1.				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	GGGCCCTTCCGTCCTGGCTGG	0.557													29	29					0	0	1	0	0	A	16146596	G	A	16146596	3	1	81	1	0	0	0	0	1	0	0	0	49	1145	40	1	1438	1	ABCC1	16	16146596	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	44806	16146596	74208157	11448	15064											
ABCC1	4363	broad.mit.edu	37	16	16215931	16215931	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:16215931G>A	ENST00000399408.2	+	25	3695	c.3520G>A	c.(3520-3522)Gtc>Atc	p.V1174I	ABCC1_ENST00000351154.5_Missense_Mutation_p.V1105I|ABCC1_ENST00000349029.5_Missense_Mutation_p.V1049I|ABCC1_ENST00000345148.5_Missense_Mutation_p.V1164I|ABCC1_ENST00000399410.3_Missense_Mutation_p.V1164I|ABCC1_ENST00000346370.5_Missense_Mutation_p.V1108I			P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 1	1164	ABC transmembrane type-1 2.				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	GGGGGTCAGCGTCATTCGAGC	0.602													22	28					0	0	1	0	0	A	16215931	G	A	16215931	3	1	81	1	0	0	0	0	1	0	0	0	49	1145	40	1	3584	1	ABCC1	16	16215931	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	69335	16215931	74138822	11449	15065											
ABCC1	4363	broad.mit.edu	37	16	16225792	16225792	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:16225792G>T	ENST00000399408.2	+	28	4171	c.3996G>T	c.(3994-3996)aaG>aaT	p.K1332N	ABCC1_ENST00000351154.5_Splice_Site_p.K1263N|ABCC1_ENST00000349029.5_Splice_Site_p.K1207N|ABCC1_ENST00000345148.5_Splice_Site_p.K1322N|ABCC1_ENST00000399410.3_Splice_Site_p.K1322N|ABCC1_ENST00000346370.5_Splice_Site_p.K1266N			P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 1	1322	ABC transporter 2.				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	GGGGAGAAAAGGTGGGTACAC	0.597													13	21					2.61681e-11	3.23796e-11	1	1	0	T	16225792	G	T	16225792	5	4	81	1	0	0	0	0	0	0	1	0	49	1014	35	4	4072	4	ABCC1	16	16225792	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	9861	16225792	74128961	11450	15066											
ABCC6	368	broad.mit.edu	37	16	16315535	16315535	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:16315535G>A	ENST00000205557.7	-	2	219	c.190C>T	c.(190-192)Cgg>Tgg	p.R64W	ABCC6_ENST00000575728.1_Missense_Mutation_p.R64W|ABCC6_ENST00000574094.1_5'UTR	NM_001171.5	NP_001162	O95255	MRP6_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 6	64			R -> W.		response to drug|visual perception	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)		GGGGACATCCGGAGGTAGCCC	0.612													12	28					0	0	1	0	0	A	16315535	G	A	16315535	3	1	81	1	0	0	0	0	1	0	0	0	57	1115	39	1	4522	1	ABCC6	16	16315535	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	89743	16315535	74039218	11451	15067											
NOMO3	408050	broad.mit.edu	37	16	16359019	16359019	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:16359019T>C	ENST00000399336.4	+	15	1961	c.1789T>C	c.(1789-1791)Tct>Cct	p.S597P	NOMO3_ENST00000538468.1_Missense_Mutation_p.S430P|NOMO3_ENST00000263012.6_Missense_Mutation_p.S597P	NM_001004067.3	NP_001004067.1	P69849	NOMO3_HUMAN	NODAL modulator 3	597						integral to membrane	carbohydrate binding|carboxypeptidase activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	8				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)		ATGTTCCCTGTCTCACGCCAT	0.498													19	45					0	0	1	0	0	C	16359019	T	C	16359019	3	2	81	1	0	0	0	0	1	0	0	0	10580	1667	58	3	1847	3	NOMO3	16	16359019	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	43484	16359019	73995734	11452	15068											
TMC7	79905	broad.mit.edu	37	16	19049260	19049260	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:19049260G>A	ENST00000421369.3	+	8	1298	c.740G>A	c.(739-741)cGc>cAc	p.R247H	TMC7_ENST00000561963.1_3'UTR|TMC7_ENST00000304381.5_Missense_Mutation_p.R357H|TMC7_ENST00000569532.1_Missense_Mutation_p.R357H	NM_001160364.1	NP_001153836.1	Q7Z402	TMC7_HUMAN	transmembrane channel-like 7	357						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						GAAACAATACGCATTTACTCT	0.413													55	57					0	0	1	0	0	A	19049260	G	A	19049260	3	1	81	1	0	0	0	0	1	0	0	0	16050	1087	38	1	1100	1	TMC7	16	19049260	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2690241	19049260	71305493	11453	15069											
TMC7	79905	broad.mit.edu	37	16	19056286	19056286	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:19056286C>T	ENST00000421369.3	+	10	1646	c.1088C>T	c.(1087-1089)aCa>aTa	p.T363I	TMC7_ENST00000304381.5_Missense_Mutation_p.T473I|TMC7_ENST00000569532.1_Missense_Mutation_p.T473I	NM_001160364.1	NP_001153836.1	Q7Z402	TMC7_HUMAN	transmembrane channel-like 7	473						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						GATGATGACACATGTGACCTT	0.562													55	66					0	0	1	0	0	T	19056286	C	T	19056286	3	4	81	1	0	0	0	0	1	0	0	0	16050	478	17	2	1456	2	TMC7	16	19056286	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	7026	19056286	71298467	11454	15070											
SYT17	51760	broad.mit.edu	37	16	19194972	19194972	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:19194972G>A	ENST00000562034.1	+	3	4069	c.271G>A	c.(271-273)Gac>Aac	p.D91N	SYT17_ENST00000568115.1_Missense_Mutation_p.D91N|SYT17_ENST00000355377.2_Missense_Mutation_p.D152N|SYT17_ENST00000562711.2_Missense_Mutation_p.D148N			Q9BSW7	SYT17_HUMAN	synaptotagmin XVII	152						membrane|synaptic vesicle	transporter activity			NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	17						TAACCCCGACGACTATTTCAG	0.537													27	35					0	0	1	0	0	A	19194972	G	A	19194972	3	1	81	1	0	0	0	0	1	0	0	0	15530	1058	37	1	472	1	SYT17	16	19194972	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	138686	19194972	71159781	11455	15071											
SYT17	51760	broad.mit.edu	37	16	19195193	19195193	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:19195193G>A	ENST00000562034.1	+	3	4290	c.492G>A	c.(490-492)gcG>gcA	p.A164A	SYT17_ENST00000568115.1_Silent_p.A164A|SYT17_ENST00000355377.2_Silent_p.A225A|SYT17_ENST00000562711.2_Silent_p.A221A			Q9BSW7	SYT17_HUMAN	synaptotagmin XVII	225						membrane|synaptic vesicle	transporter activity			NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	17						AGGACATGGCGCACTCCAACC	0.612													67	86					0	0	1	0	0	A	19195193	G	A	19195193	2	1	81	1	0	0	0	0	0	0	0	1	15530	1074	38	1		1	SYT17	16	19195193	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	221	19195193	71159560	11456	15072											
TMC5	79838	broad.mit.edu	37	16	19451377	19451377	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:19451377G>T	ENST00000396229.2	+	3	766	c.17G>T	c.(16-18)aGg>aTg	p.R6M	TMC5_ENST00000541464.1_Missense_Mutation_p.R6M|TMC5_ENST00000381414.4_Missense_Mutation_p.R6M|TMC5_ENST00000542583.2_Missense_Mutation_p.R6M	NM_001105248.1	NP_001098718.1	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5	6						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						GCCTACTACAGGAATAACTGG	0.443													6	76					1.12685e-05	1.27052e-05	1	1	0	T	19451377	G	T	19451377	3	4	81	1	0	0	0	0	1	0	0	0	16048	1000	35	4	19	4	TMC5	16	19451377	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	256184	19451377	70903376	11457	15073											
TMC5	79838	broad.mit.edu	37	16	19492748	19492748	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:19492748G>T	ENST00000396229.2	+	15	3073	c.2324G>T	c.(2323-2325)aGg>aTg	p.R775M	TMC5_ENST00000541464.1_Missense_Mutation_p.R723M|TMC5_ENST00000381414.4_Missense_Mutation_p.R775M|CTA-363E6.6_ENST00000561762.1_RNA|TMC5_ENST00000542583.2_Missense_Mutation_p.R775M|TMC5_ENST00000564959.1_Missense_Mutation_p.R458M|TMC5_ENST00000219821.5_Missense_Mutation_p.R529M|TMC5_ENST00000561503.1_Missense_Mutation_p.R416M	NM_001105248.1	NP_001098718.1	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5	775						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						GACATTGCCAGGAACGTTCTA	0.448													43	94					6.4771e-29	8.61964e-29	1	1	0	T	19492748	G	T	19492748	3	4	81	1	0	0	0	0	1	0	0	0	16048	1000	35	4	2688	4	TMC5	16	19492748	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	41371	19492748	70862005	11458	15074											
TMC5	79838	broad.mit.edu	37	16	19501749	19501749	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:19501749G>A	ENST00000396229.2	+	18	3355	c.2606G>A	c.(2605-2607)cGa>cAa	p.R869Q	TMC5_ENST00000541464.1_Missense_Mutation_p.R817Q|TMC5_ENST00000381414.4_Intron|TMC5_ENST00000542583.2_Missense_Mutation_p.R869Q|TMC5_ENST00000564959.1_Missense_Mutation_p.R552Q|TMC5_ENST00000219821.5_Missense_Mutation_p.R623Q|TMC5_ENST00000561503.1_Missense_Mutation_p.R510Q	NM_001105248.1	NP_001098718.1	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5	869						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						GGCCCTTTTCGAGGTCTGCCT	0.478													7	149					0	0	1	0	0	A	19501749	G	A	19501749	3	1	81	1	0	0	0	0	1	0	0	0	16048	1058	37	1	2982	1	TMC5	16	19501749	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	9001	19501749	70853004	11459	15075											
C16orf62	57020	broad.mit.edu	37	16	19639072	19639072	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:19639072G>T	ENST00000438132.3	+	16	1643	c.1595G>T	c.(1594-1596)aGg>aTg	p.R532M	C16orf62_ENST00000417362.2_Missense_Mutation_p.R376M|C16orf62_ENST00000542263.1_Missense_Mutation_p.R465M|C16orf62_ENST00000251143.5_Missense_Mutation_p.R443M|C16orf62_ENST00000448695.1_Missense_Mutation_p.R293M|C16orf62_ENST00000543152.1_Missense_Mutation_p.R192M	NM_020314.5	NP_064710.4	Q7Z3J2	CP062_HUMAN	chromosome 16 open reading frame 62	443						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	36						ATCGCCACAAGGTCTATGGAT	0.483													7	101					0.00307968	0.00324365	1	1	0	T	19639072	G	T	19639072	3	4	81	1	0	0	0	0	1	0	0	0	1832	1000	35	4	1390	4	C16orf62	16	19639072	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	137323	19639072	70715681	11460	15076											
GPR139	124274	broad.mit.edu	37	16	20043451	20043451	+	Missense_Mutation	SNP	G	G	A	rs144787739	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:20043451G>A	ENST00000570682.1	-	2	968	c.668C>T	c.(667-669)aCg>aTg	p.T223M		NM_001002911.2	NP_001002911.1	Q6DWJ6	GP139_HUMAN	G protein-coupled receptor 139	223						integral to membrane|plasma membrane				autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	30						GGTCTTCCCCGTGGAGTAGCC	0.527													25	34					0	0	1	0	0	A	20043451	G	A	20043451	3	1	81	1	0	0	0	0	1	0	0	0	6688	1145	40	1	397	1	GPR139	16	20043451	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	404379	20043451	70311302	11461	15077											
GPR139	124274	broad.mit.edu	37	16	20043467	20043467	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:20043467G>T	ENST00000570682.1	-	2	952	c.652C>A	c.(652-654)Ctc>Atc	p.L218I		NM_001002911.2	NP_001002911.1	Q6DWJ6	GP139_HUMAN	G protein-coupled receptor 139	218						integral to membrane|plasma membrane				autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	30						TAGCCACGGAGACGAAAATTG	0.512													23	40					6.32553e-13	7.94418e-13	1	1	0	T	20043467	G	T	20043467	3	4	81	1	0	0	0	0	1	0	0	0	6688	942	33	4	413	4	GPR139	16	20043467	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	16	20043467	70311286	11462	15078											
PDILT	204474	broad.mit.edu	37	16	20410477	20410477	+	Missense_Mutation	SNP	G	G	A	rs143235162		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:20410477G>A	ENST00000302451.4	-	2	394	c.146C>T	c.(145-147)aCg>aTg	p.T49M		NM_174924.1	NP_777584.1	Q8N807	PDILT_HUMAN	protein disulfide isomerase-like, testis expressed	49					cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						GCCAGCGGGCGTTAGCACTAG	0.572													48	66					0	0	1	0	0	A	20410477	G	A	20410477	3	1	81	1	0	0	0	0	1	0	0	0	11721	1145	40	1	1652	1	PDILT	16	20410477	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	367010	20410477	69944276	11463	15079											
ACSM1	116285	broad.mit.edu	37	16	20681161	20681161	+	Translation_Start_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:20681161C>A	ENST00000219151.4	-	0	967				ACSM1_ENST00000307493.4_Missense_Mutation_p.K300N|ACSM1_ENST00000520010.1_Missense_Mutation_p.K300N			Q08AH1	ACSM1_HUMAN	acyl-CoA synthetase medium-chain family member 1						benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process	mitochondrial matrix	acyl-CoA ligase activity|ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						GTATGATGACCTTGGTGTCAA	0.433													7	74					0.00198382	0.00209725	1	1	0	A	20681161	C	A	20681161	1	1	81	1	0	0	0	0	0	0	0	0	182	680	24	4		4	ACSM1	16	20681161	Translation_Start_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	270684	20681161	69673592	11464	15080											
ACSM1	116285	broad.mit.edu	37	16	20702396	20702396	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:20702396T>C	ENST00000307493.4	-	1	182	c.115A>G	c.(115-117)Aga>Gga	p.R39G	ACSM1_ENST00000219151.4_5'UTR|ACSM1_ENST00000520010.1_Missense_Mutation_p.R39G	NM_052956.2	NP_443188.2	Q08AH1	ACSM1_HUMAN	acyl-CoA synthetase medium-chain family member 1	39					benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process	mitochondrial matrix	acyl-CoA ligase activity|ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						TCATTCCATCTTGGGGCTCCA	0.512													15	182					0	0	1	0	0	C	20702396	T	C	20702396	3	2	81	1	0	0	0	0	1	0	0	0	182	1617	56	3	1670	3	ACSM1	16	20702396	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	21235	20702396	69652357	11465	15081											
ACSM3	6296	broad.mit.edu	37	16	20781367	20781367	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:20781367G>A	ENST00000289416.5	+	2	486	c.11G>A	c.(10-12)cGt>cAt	p.R4H	ACSM3_ENST00000440284.2_Missense_Mutation_p.R4H	NM_005622.3	NP_005613.2	Q53FZ2	ACSM3_HUMAN	acyl-CoA synthetase medium-chain family member 3	4					regulation of blood pressure	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	21						ATGCTAGCTCGTGTCACCAGG	0.433													21	29					0	0	1	0	0	A	20781367	G	A	20781367	3	1	81	1	0	0	0	0	1	0	0	0	185	1145	40	1	13	1	ACSM3	16	20781367	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	78971	20781367	69573386	11466	15082											
LOC81691	81691	broad.mit.edu	37	16	20838466	20838466	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:20838466C>A	ENST00000261377.6	+	9	1117	c.908C>A	c.(907-909)cCt>cAt	p.P303H	AC004381.6_ENST00000348433.6_Missense_Mutation_p.P303H|ERI2_ENST00000564349.1_Intron|AC004381.6_ENST00000564274.1_Missense_Mutation_p.P303H	NM_001199053.1|NM_030941.2	NP_001185982.1|NP_112203.2																					CTGCTTCCTCCTGATGCTGTG	0.408													10	131					0.000442599	0.000477972	1	1	0	A	20838466	C	A	20838466	3	1	81	1	0	0	0	0	1	0	0	0	8935	681	24	4	938	4	LOC81691	16	20838466	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	57099	20838466	69516287	11467	15083											
DNAH3	55567	broad.mit.edu	37	16	20975279	20975279	+	Silent	SNP	C	C	T	rs148736888		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:20975279C>T	ENST00000261383.3	-	53	9926	c.9927G>A	c.(9925-9927)tcG>tcA	p.S3309S	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3309					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TGGCCAGGTCCGAGATACAAA	0.498													32	55					0	0	1	0	0	T	20975279	C	T	20975279	2	4	81	1	0	0	0	0	0	0	0	1	4631	639	23	1		1	DNAH3	16	20975279	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	136813	20975279	69379474	11468	15084											
DNAH3	55567	broad.mit.edu	37	16	20975574	20975574	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:20975574G>A	ENST00000261383.3	-	53	9631	c.9632C>T	c.(9631-9633)gCg>gTg	p.A3211V	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3211	AAA 5 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CTTCTCCTTCGCAGCCACGAT	0.473													26	75					0	0	1	0	0	A	20975574	G	A	20975574	3	1	81	1	0	0	0	0	1	0	0	0	4631	1087	38	1	2757	1	DNAH3	16	20975574	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	295	20975574	69379179	11469	15085											
DNAH3	55567	broad.mit.edu	37	16	20996860	20996860	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:20996860C>T	ENST00000261383.3	-	48	7203	c.7204G>A	c.(7204-7206)Gcc>Acc	p.A2402T	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2402	AAA 4 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		GACATGGGGGCCTTGCTGATG	0.507													31	57					0	0	1	0	0	T	20996860	C	T	20996860	3	4	81	1	0	0	0	0	1	0	0	0	4631	739	26	2	5205	2	DNAH3	16	20996860	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	21286	20996860	69357893	11470	15086											
DNAH3	55567	broad.mit.edu	37	16	21045299	21045299	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:21045299C>T	ENST00000261383.3	-	36	5193	c.5194G>A	c.(5194-5196)Gca>Aca	p.A1732T	DNAH3_ENST00000415178.1_Missense_Mutation_p.A1732T	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1732	AAA 2 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		GCTTTACCTGCGTGTAAATCG	0.537													15	15					0	0	1	0	0	T	21045299	C	T	21045299	3	4	81	1	0	0	0	0	1	0	0	0	4631	768	27	1	7263	1	DNAH3	16	21045299	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	48439	21045299	69309454	11471	15087											
DNAH3	55567	broad.mit.edu	37	16	21061301	21061301	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:21061301G>T	ENST00000261383.3	-	30	4276	c.4277C>A	c.(4276-4278)gCt>gAt	p.A1426D	DNAH3_ENST00000415178.1_Missense_Mutation_p.A1426D	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1426	AAA 1 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		ACCCTCTGGAGCACCCCCAAG	0.507													36	65					1.59361e-14	2.02285e-14	1	1	0	T	21061301	G	T	21061301	3	4	81	1	0	0	0	0	1	0	0	0	4631	971	34	4	8204	4	DNAH3	16	21061301	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	16002	21061301	69293452	11472	15088											
DNAH3	55567	broad.mit.edu	37	16	21080884	21080884	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:21080884T>C	ENST00000261383.3	-	23	3232	c.3233A>G	c.(3232-3234)gAc>gGc	p.D1078G	DNAH3_ENST00000415178.1_Missense_Mutation_p.D1078G	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1078	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		ATCCAAATTGTCTTGTATGCG	0.473													20	62					0	0	1	0	0	C	21080884	T	C	21080884	3	2	81	1	0	0	0	0	1	0	0	0	4631	1667	58	3	9276	3	DNAH3	16	21080884	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	19583	21080884	69273869	11473	15089											
ZP2	7783	broad.mit.edu	37	16	21210953	21210953	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:21210953C>T	ENST00000574002.1	-	17	2347	c.1865G>A	c.(1864-1866)cGa>cAa	p.R622Q	ZP2_ENST00000574091.1_Missense_Mutation_p.R613Q|ZP2_ENST00000219593.4_Missense_Mutation_p.R622Q|AF001550.7_ENST00000572747.1_RNA			Q05996	ZP2_HUMAN	zona pellucida glycoprotein 2 (sperm receptor)	622	ZP.				binding of sperm to zona pellucida|intracellular protein transport	endoplasmic reticulum|Golgi apparatus|integral to membrane|multivesicular body|plasma membrane|proteinaceous extracellular matrix|stored secretory granule	acrosin binding|coreceptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(16)|ovary(1)|prostate(1)|stomach(1)	41				GBM - Glioblastoma multiforme(48;0.0573)		AGGGGAGAGTCGATTACAGAT	0.478													18	20					0	0	1	0	0	T	21210953	C	T	21210953	3	4	81	1	0	0	0	0	1	0	0	0	18258	884	31	1	388	1	ZP2	16	21210953	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	130069	21210953	69143800	11474	15090											
IGSF6	10261	broad.mit.edu	37	16	21655643	21655643	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:21655643C>T	ENST00000268389.4	-	3	563	c.502G>A	c.(502-504)Ggt>Agt	p.G168S	METTL9_ENST00000358154.3_Intron|METTL9_ENST00000396014.4_Intron	NM_005849.3	NP_005840.2	O95976	IGSF6_HUMAN	immunoglobulin superfamily, member 6	168					cell surface receptor linked signaling pathway|immune response	integral to plasma membrane	transmembrane receptor activity			endometrium(1)|large_intestine(1)|lung(4)|urinary_tract(1)	7				GBM - Glioblastoma multiforme(48;0.066)		ACGCACACACCGGTCACATAG	0.408													12	43					0	0	1	0	0	T	21655643	C	T	21655643	3	4	81	1	0	0	0	0	1	0	0	0	7647	652	23	1	239	1	IGSF6	16	21655643	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	444690	21655643	68699110	11475	15091											
OTOA	146183	broad.mit.edu	37	16	21698948	21698948	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:21698948G>A	ENST00000388958.3	+	7	615	c.614G>A	c.(613-615)cGc>cAc	p.R205H	OTOA_ENST00000388956.4_Missense_Mutation_p.R126H|OTOA_ENST00000286149.4_Missense_Mutation_p.R205H	NM_144672.3	NP_653273.3	Q7RTW8	OTOAN_HUMAN	otoancorin	205					sensory perception of sound	anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46				GBM - Glioblastoma multiforme(48;0.0414)		CGGGACCTGCGCGAGGATGCC	0.542													6	12					0	0	1	0	0	A	21698948	G	A	21698948	3	1	81	1	0	0	0	0	1	0	0	0	11349	1087	38	1	674	1	OTOA	16	21698948	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	43305	21698948	68655805	11476	15092											
OTOA	146183	broad.mit.edu	37	16	21726405	21726405	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:21726405C>A	ENST00000388958.3	+	13	1421	c.1420C>A	c.(1420-1422)Ctg>Atg	p.L474M	OTOA_ENST00000388956.4_Missense_Mutation_p.L395M|OTOA_ENST00000286149.4_Missense_Mutation_p.L488M|OTOA_ENST00000388957.3_Missense_Mutation_p.L150M	NM_144672.3	NP_653273.3	Q7RTW8	OTOAN_HUMAN	otoancorin	488					sensory perception of sound	anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46				GBM - Glioblastoma multiforme(48;0.0414)		CTCGCAGGTCCTGAGAAGTGC	0.567													14	224					0.000151284	0.000165917	1	1	0	A	21726405	C	A	21726405	3	1	81	1	0	0	0	0	1	0	0	0	11349	680	24	4	1516	4	OTOA	16	21726405	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	27457	21726405	68628348	11477	15093											
OTOA	146183	broad.mit.edu	37	16	21742191	21742191	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:21742191G>T	ENST00000388958.3	+	20	2242	c.2241G>T	c.(2239-2241)aaG>aaT	p.K747N	OTOA_ENST00000388956.4_Missense_Mutation_p.K668N|OTOA_ENST00000286149.4_Missense_Mutation_p.K761N|OTOA_ENST00000388957.3_Missense_Mutation_p.K423N	NM_144672.3	NP_653273.3	Q7RTW8	OTOAN_HUMAN	otoancorin	761					sensory perception of sound	anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46				GBM - Glioblastoma multiforme(48;0.0414)		AGACCACGAAGGACTTGGGAC	0.443													14	3					4.14922e-12	5.17332e-12	1	1	0	T	21742191	G	T	21742191	3	4	81	1	0	0	0	0	1	0	0	0	11349	991	35	4	2365	4	OTOA	16	21742191	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	15786	21742191	68612562	11478	15094											
PDZD9	255762	broad.mit.edu	37	16	22000097	22000097	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:22000097C>T	ENST00000286143.6	-	4	362	c.41G>A	c.(40-42)aGt>aAt	p.S14N	PDZD9_ENST00000424898.2_Missense_Mutation_p.S76N|PDZD9_ENST00000537222.2_Missense_Mutation_p.S16N			Q8IXQ8	PDZD9_HUMAN	PDZ domain containing 9	76										breast(3)|endometrium(2)|lung(3)|pancreas(1)	9						ATGGCCAACACTAATCAGAAC	0.353													6	24					0	0	1	0	0	T	22000097	C	T	22000097	3	4	81	1	0	0	0	0	1	0	0	0	11753	565	20	2	575	2	PDZD9	16	22000097	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	257906	22000097	68354656	11479	15095											
VWA3A	146177	broad.mit.edu	37	16	22134955	22134955	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:22134955C>T	ENST00000389398.5	+	16	1555	c.1459C>T	c.(1459-1461)Cgg>Tgg	p.R487W	VWA3A_ENST00000389397.4_5'UTR	NM_173615.3	NP_775886.3	A6NCI4	VWA3A_HUMAN	von Willebrand factor A domain containing 3A	487						extracellular region				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7				GBM - Glioblastoma multiforme(48;0.0439)		CAGAGCTATGCGGATGTATGA	0.547													45	79					0	0	1	0	0	T	22134955	C	T	22134955	3	4	81	1	0	0	0	0	1	0	0	0	17300	759	27	1	1521	1	VWA3A	16	22134955	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	134858	22134955	68219798	11480	15096											
VWA3A	146177	broad.mit.edu	37	16	22142596	22142596	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:22142596T>G	ENST00000389398.5	+	18	1819	c.1723T>G	c.(1723-1725)Tgg>Ggg	p.W575G	VWA3A_ENST00000389397.4_5'UTR	NM_173615.3	NP_775886.3	A6NCI4	VWA3A_HUMAN	von Willebrand factor A domain containing 3A	575	VWFA 1.					extracellular region				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7				GBM - Glioblastoma multiforme(48;0.0439)		ACAAAGTGCCTGGCGGTAGGT	0.493													14	19					0	0	1	0	0	G	22142596	T	G	22142596	3	3	81	1	0	0	0	0	1	0	0	0	17300	1580	55	5	1793	5	VWA3A	16	22142596	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	7641	22142596	68212157	11481	15097											
VWA3A	146177	broad.mit.edu	37	16	22152906	22152906	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:22152906C>T	ENST00000389398.5	+	24	2483	c.2387C>T	c.(2386-2388)gCg>gTg	p.A796V	VWA3A_ENST00000389397.4_5'UTR	NM_173615.3	NP_775886.3	A6NCI4	VWA3A_HUMAN	von Willebrand factor A domain containing 3A	796						extracellular region				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7				GBM - Glioblastoma multiforme(48;0.0439)		TCCTCAGCTGCGGCCCAGCCA	0.488													3	10					0	0	1	0	0	T	22152906	C	T	22152906	3	4	81	1	0	0	0	0	1	0	0	0	17300	768	27	1	2481	1	VWA3A	16	22152906	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	10310	22152906	68201847	11482	15098											
EEF2K	29904	broad.mit.edu	37	16	22262474	22262474	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:22262474A>C	ENST00000263026.5	+	6	923	c.449A>C	c.(448-450)aAg>aCg	p.K150T		NM_013302.3	NP_037434	O00418	EF2K_HUMAN	eukaryotic elongation factor-2 kinase	150	Alpha-type protein kinase.				insulin receptor signaling pathway|translational elongation	cytosol	ATP binding|calcium ion binding|calmodulin binding|elongation factor-2 kinase activity|translation factor activity, nucleic acid binding			breast(1)|central_nervous_system(1)|endometrium(8)|large_intestine(2)|lung(13)|ovary(1)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(48;0.0223)		TCCCACAGGAAGAAGCTCTCC	0.597													7	141					0	0	1	0	0	C	22262474	A	C	22262474	3	2	81	1	0	0	0	0	1	0	0	0	4956	72	3	5	467	5	EEF2K	16	22262474	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	109568	22262474	68092279	11483	15099											
EEF2K	29904	broad.mit.edu	37	16	22269826	22269826	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:22269826G>T	ENST00000263026.5	+	10	1515	c.1041G>T	c.(1039-1041)aaG>aaT	p.K347N		NM_013302.3	NP_037434	O00418	EF2K_HUMAN	eukaryotic elongation factor-2 kinase	347					insulin receptor signaling pathway|translational elongation	cytosol	ATP binding|calcium ion binding|calmodulin binding|elongation factor-2 kinase activity|translation factor activity, nucleic acid binding			breast(1)|central_nervous_system(1)|endometrium(8)|large_intestine(2)|lung(13)|ovary(1)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(48;0.0223)		AATCAGCCAAGACCATCTTGA	0.532													6	71					0.217242	0.218703	1	1	0	T	22269826	G	T	22269826	3	4	81	1	0	0	0	0	1	0	0	0	4956	933	33	4	1075	4	EEF2K	16	22269826	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	7352	22269826	68084927	11484	15100											
POLR3E	55718	broad.mit.edu	37	16	22327981	22327981	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:22327981G>T	ENST00000299853.5	+	10	869	c.702G>T	c.(700-702)gaG>gaT	p.E234D	POLR3E_ENST00000418581.2_Missense_Mutation_p.E198D|POLR3E_ENST00000359210.4_Missense_Mutation_p.E234D|POLR3E_ENST00000564209.1_Missense_Mutation_p.E234D	NM_001258033.1|NM_001258035.1|NM_018119.3	NP_001244962.1|NP_001244964.1|NP_060589.1	Q9NVU0	RPC5_HUMAN	polymerase (RNA) III (DNA directed) polypeptide E (80kD)	234					innate immune response|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA-directed RNA polymerase activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.012)		GCGGGGTGGAGAACACGGAGC	0.637													4	44					1.23904e-05	1.39156e-05	1	1	0	T	22327981	G	T	22327981	3	4	81	1	0	0	0	0	1	0	0	0	12280	933	33	4	736	4	POLR3E	16	22327981	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	58155	22327981	68026772	11485	15101											
POLR3E	55718	broad.mit.edu	37	16	22337275	22337275	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:22337275G>A	ENST00000299853.5	+	18	1709	c.1542G>A	c.(1540-1542)gcG>gcA	p.A514A	POLR3E_ENST00000418581.2_Silent_p.A478A|POLR3E_ENST00000359210.4_Silent_p.A514A|POLR3E_ENST00000564209.1_Silent_p.A514A	NM_001258033.1|NM_001258035.1|NM_018119.3	NP_001244962.1|NP_001244964.1|NP_060589.1	Q9NVU0	RPC5_HUMAN	polymerase (RNA) III (DNA directed) polypeptide E (80kD)	514					innate immune response|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA-directed RNA polymerase activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.012)		agcaggaggcggaggaggagC	0.716													4	2					0	0	1	0	0	A	22337275	G	A	22337275	2	1	81	1	0	0	0	0	0	0	0	1	12280	1103	39	1		1	POLR3E	16	22337275	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	9294	22337275	68017478	11486	15102											
USP31	57478	broad.mit.edu	37	16	23080469	23080469	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:23080469T>G	ENST00000219689.7	-	16	2956	c.2957A>C	c.(2956-2958)aAt>aCt	p.N986T	USP31_ENST00000567975.1_Missense_Mutation_p.N279T	NM_020718.3	NP_065769.3	Q70CQ4	UBP31_HUMAN	ubiquitin specific peptidase 31	986	Ser-rich.				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57				GBM - Glioblastoma multiforme(48;0.0187)		GATCTGATTATTGTTATCAAA	0.532													5	85					0	0	1	0	0	G	23080469	T	G	23080469	3	3	81	1	0	0	0	0	1	0	0	0	17122	1493	52	4	1105	4	USP31	16	23080469	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	743194	23080469	67274284	11487	15103											
USP31	57478	broad.mit.edu	37	16	23113642	23113642	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:23113642C>A	ENST00000219689.7	-	6	1231	c.1232G>T	c.(1231-1233)aGa>aTa	p.R411I		NM_020718.3	NP_065769.3	Q70CQ4	UBP31_HUMAN	ubiquitin specific peptidase 31	411					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57				GBM - Glioblastoma multiforme(48;0.0187)		TCCCTTACCTCTTTGACTGAG	0.383													4	46					0.00024832	0.000269806	1	1	0	A	23113642	C	A	23113642	3	1	81	1	0	0	0	0	1	0	0	0	17122	913	32	4	2870	4	USP31	16	23113642	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	33173	23113642	67241111	11488	15104											
SCNN1B	6338	broad.mit.edu	37	16	23379247	23379247	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:23379247G>A	ENST00000343070.2	+	5	1023	c.847G>A	c.(847-849)Gca>Aca	p.A283T	SCNN1B_ENST00000568923.1_Missense_Mutation_p.A256T|SCNN1B_ENST00000307331.5_Missense_Mutation_p.A328T|SCNN1B_ENST00000568085.1_Missense_Mutation_p.A283T	NM_000336.2	NP_000327.2	P51168	SCNNB_HUMAN	sodium channel, non-voltage-gated 1, beta subunit	283					excretion|sensory perception of taste	apical plasma membrane	ligand-gated sodium channel activity|WW domain binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(48;0.0465)	Amiloride(DB00594)|Triamterene(DB00384)	GACAGAGAAGGCACTTCCTTC	0.507													46	84					0	0	1	0	0	A	23379247	G	A	23379247	3	1	81	1	0	0	0	0	1	0	0	0	13982	1203	42	2	861	2	SCNN1B	16	23379247	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	265605	23379247	66975506	11489	15105											
COG7	91949	broad.mit.edu	37	16	23400310	23400310	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:23400310T>C	ENST00000307149.5	-	17	2429	c.2244A>G	c.(2242-2244)agA>agG	p.R748R		NM_153603.3	NP_705831.1	P83436	COG7_HUMAN	component of oligomeric golgi complex 7	748					intracellular protein transport|protein glycosylation|protein localization in Golgi apparatus|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding			breast(1)|central_nervous_system(1)|endometrium(7)|large_intestine(9)|liver(1)|lung(7)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.0401)		TGCTGACCTGTCTATAGTCCT	0.617													18	49					0	0	1	0	0	C	23400310	T	C	23400310	2	2	81	1	0	0	0	0	0	0	0	1	3686	1664	58	3		3	COG7	16	23400310	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	21063	23400310	66954443	11490	15106											
COG7	91949	broad.mit.edu	37	16	23404666	23404666	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:23404666G>A	ENST00000307149.5	-	15	2075	c.1890C>T	c.(1888-1890)atC>atT	p.I630I	COG7_ENST00000569635.1_Intron	NM_153603.3	NP_705831.1	P83436	COG7_HUMAN	component of oligomeric golgi complex 7	630					intracellular protein transport|protein glycosylation|protein localization in Golgi apparatus|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding			breast(1)|central_nervous_system(1)|endometrium(7)|large_intestine(9)|liver(1)|lung(7)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.0401)		TGTACTGCCCGATCTGAAACA	0.468													15	23					0	0	1	0	0	A	23404666	G	A	23404666	2	1	81	1	0	0	0	0	0	0	0	1	3686	1048	37	1		1	COG7	16	23404666	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	4356	23404666	66950087	11491	15107											
COG7	91949	broad.mit.edu	37	16	23428437	23428437	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:23428437A>G	ENST00000307149.5	-	9	1328	c.1143T>C	c.(1141-1143)caT>caC	p.H381H		NM_153603.3	NP_705831.1	P83436	COG7_HUMAN	component of oligomeric golgi complex 7	381					intracellular protein transport|protein glycosylation|protein localization in Golgi apparatus|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding			breast(1)|central_nervous_system(1)|endometrium(7)|large_intestine(9)|liver(1)|lung(7)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.0401)		TCACTTCCCCATGCTCCTGGT	0.493													4	41					0	0	1	0	0	G	23428437	A	G	23428437	2	3	81	1	0	0	0	0	0	0	0	1	3686	214	8	3		3	COG7	16	23428437	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	23771	23428437	66926316	11492	15108											
EARS2	124454	broad.mit.edu	37	16	23546566	23546566	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:23546566G>T	ENST00000449606.1	-	4	632	c.601C>A	c.(601-603)Ctg>Atg	p.L201M	EARS2_ENST00000564501.1_Missense_Mutation_p.L201M|EARS2_ENST00000563459.1_Missense_Mutation_p.L201M|EARS2_ENST00000564987.1_5'UTR|EARS2_ENST00000563232.1_Missense_Mutation_p.L201M	NM_001083614.1	NP_001077083.1	Q5JPH6	SYEM_HUMAN	glutamyl-tRNA synthetase 2, mitochondrial	201					glutamyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|glutamate-tRNA ligase activity|RNA binding			central_nervous_system(1)|endometrium(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	8				GBM - Glioblastoma multiforme(48;0.0353)	L-Glutamic Acid(DB00142)	CCATAGACCAGGTCCTGGAAG	0.627													5	54					1.23904e-05	1.39156e-05	1	1	0	T	23546566	G	T	23546566	3	4	81	1	0	0	0	0	1	0	0	0	4904	991	35	4	994	4	EARS2	16	23546566	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	118129	23546566	66808187	11493	15109											
EARS2	124454	broad.mit.edu	37	16	23556017	23556017	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:23556017C>T	ENST00000449606.1	-	3	334	c.303G>A	c.(301-303)ccG>ccA	p.P101P	EARS2_ENST00000564501.1_Silent_p.P101P|EARS2_ENST00000563459.1_Silent_p.P101P|EARS2_ENST00000564987.1_Intron|EARS2_ENST00000563232.1_Silent_p.P101P	NM_001083614.1	NP_001077083.1	Q5JPH6	SYEM_HUMAN	glutamyl-tRNA synthetase 2, mitochondrial	101					glutamyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|glutamate-tRNA ligase activity|RNA binding			central_nervous_system(1)|endometrium(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	8				GBM - Glioblastoma multiforme(48;0.0353)	L-Glutamic Acid(DB00142)	TCTCATCAGGCGGGATGCCTG	0.562													5	6					0	0	1	0	0	T	23556017	C	T	23556017	2	4	81	1	0	0	0	0	0	0	0	1	4904	755	27	1		1	EARS2	16	23556017	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	9451	23556017	66798736	11494	15110											
UBFD1	56061	broad.mit.edu	37	16	23570943	23570943	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:23570943G>A	ENST00000395878.3	+	3	891	c.510G>A	c.(508-510)gcG>gcA	p.A170A	UBFD1_ENST00000567264.1_Silent_p.A170A|UBFD1_ENST00000571064.1_3'UTR|UBFD1_ENST00000219638.4_Silent_p.A394A|UBFD1_ENST00000567212.1_Silent_p.A161A	NM_019116.2	NP_061989.2	O14562	UBFD1_HUMAN	ubiquitin family domain containing 1	170										endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7				GBM - Glioblastoma multiforme(48;0.0331)		AAGATGCTGCGCAGCAGGATG	0.468													4	31					0	0	1	0	0	A	23570943	G	A	23570943	2	1	81	1	0	0	0	0	0	0	0	1	16945	1074	38	1		1	UBFD1	16	23570943	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	14926	23570943	66783810	11495	15111											
PALB2	79728	broad.mit.edu	37	16	23641564	23641564	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:23641564G>T	ENST00000261584.4	-	5	2063	c.1911C>A	c.(1909-1911)ccC>ccA	p.P637P		NM_024675.3	NP_078951.2	Q86YC2	PALB2_HUMAN	partner and localizer of BRCA2	637					double-strand break repair via homologous recombination	nucleoplasm	DNA binding|protein binding			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(3)	55				GBM - Glioblastoma multiforme(48;0.0167)		TTGACTCAAAGGGCTCCACTG	0.413			"F, N, Mis"			"Wilms tumor, medulloblastoma, AML ,breast"		Involved in tolerance or repair of DNA crosslinks					7	137					5.18039e-06	5.88187e-06	1	1	0	T	23641564	G	T	23641564	2	4	81	1	0	0	0	0	0	0	0	1	11453	987	35	4		4	PALB2	16	23641564	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	70621	23641564	66713189	11496	15112											
PALB2	79728	broad.mit.edu	37	16	23646617	23646617	+	Missense_Mutation	SNP	G	G	A	rs45510998		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:23646617G>A	ENST00000261584.4	-	4	1402	c.1250C>T	c.(1249-1251)tCc>tTc	p.S417F		NM_024675.3	NP_078951.2	Q86YC2	PALB2_HUMAN	partner and localizer of BRCA2	417					double-strand break repair via homologous recombination	nucleoplasm	DNA binding|protein binding			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(3)	55				GBM - Glioblastoma multiforme(48;0.0167)		CTGGCAATTGGACATGCTTCG	0.398			"F, N, Mis"			"Wilms tumor, medulloblastoma, AML ,breast"		Involved in tolerance or repair of DNA crosslinks					54	51					0	0	1	0	0	A	23646617	G	A	23646617	3	1	81	1	0	0	0	0	1	0	0	0	11453	1174	41	2	2350	2	PALB2	16	23646617	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	5053	23646617	66708136	11497	15113											
PALB2	79728	broad.mit.edu	37	16	23646985	23646985	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:23646985T>A	ENST00000261584.4	-	4	1034	c.882A>T	c.(880-882)aaA>aaT	p.K294N		NM_024675.3	NP_078951.2	Q86YC2	PALB2_HUMAN	partner and localizer of BRCA2	294	Interaction with BRCA1.				double-strand break repair via homologous recombination	nucleoplasm	DNA binding|protein binding			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(3)	55				GBM - Glioblastoma multiforme(48;0.0167)		CAGTCATTTTTTTGCCTTGTG	0.368			"F, N, Mis"			"Wilms tumor, medulloblastoma, AML ,breast"		Involved in tolerance or repair of DNA crosslinks					9	119					0	0	1	0	0	A	23646985	T	A	23646985	3	1	81	1	0	0	0	0	1	0	0	0	11453	1838	64	5	2718	5	PALB2	16	23646985	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	368	23646985	66707768	11498	15114											
DCTN5	84516	broad.mit.edu	37	16	23654310	23654310	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:23654310T>C	ENST00000300087.2	+	2	234	c.83T>C	c.(82-84)tTg>tCg	p.L28S	DCTN5_ENST00000568589.1_Missense_Mutation_p.L28S|DCTN5_ENST00000568272.1_Missense_Mutation_p.L28S|DCTN5_ENST00000563998.1_Missense_Mutation_p.L28S	NM_001199743.1|NM_032486.3	NP_001186672.1|NP_115875.1	Q9BTE1	DCTN5_HUMAN	dynactin 5 (p25)	28						centrosome	transferase activity			endometrium(2)|lung(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	10				GBM - Glioblastoma multiforme(48;0.0156)		CAGTCAGTGTTGTGTGGAAGC	0.473													8	67					0	0	1	0	0	C	23654310	T	C	23654310	3	2	81	1	0	0	0	0	1	0	0	0	4333	1821	63	3	89	3	DCTN5	16	23654310	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	7325	23654310	66700443	11499	15115											
PLK1	5347	broad.mit.edu	37	16	23690654	23690654	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:23690654G>A	ENST00000300093.4	+	1	512	c.401G>A	c.(400-402)cGc>cAc	p.R134H	PLK1_ENST00000564202.1_3'UTR	NM_005030.3	NP_005021.2	P53350	PLK1_HUMAN	polo-like kinase 1	134	Protein kinase.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|G2/M transition DNA damage checkpoint|G2/M transition of mitotic cell cycle|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic prophase|negative regulation of cyclin-dependent protein kinase activity|peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|protein localization to chromatin|protein ubiquitination|regulation of mitotic anaphase|regulation of protein binding	centrosome|condensed nuclear chromosome outer kinetochore|cytosol|nucleoplasm|spindle microtubule|spindle midzone|spindle pole	anaphase-promoting complex binding|ATP binding|polo kinase kinase activity|protein kinase binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				GBM - Glioblastoma multiforme(48;0.0156)		GAGCTCTGCCGCCGGAGGGTG	0.607													10	23					0	0	1	0	0	A	23690654	G	A	23690654	3	1	81	1	0	0	0	0	1	0	0	0	12142	1087	38	1	403	1	PLK1	16	23690654	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	36344	23690654	66664099	11500	15116											
ERN2	10595	broad.mit.edu	37	16	23702331	23702331	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:23702331G>A	ENST00000256797.4	-	22	2914	c.2746C>T	c.(2746-2748)Cga>Tga	p.R916*	ERN2_ENST00000457008.2_Nonsense_Mutation_p.R816*	NM_033266.3	NP_150296.3	Q76MJ5	ERN2_HUMAN	endoplasmic reticulum to nucleus signaling 2	868					apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity			large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		AGTGCCTGTCGCACCTCAACT	0.632													4	55					0	0	1	0	0	A	23702331	G	A	23702331	4	1	81	1	0	0	0	0	0	1	0	0	5266	1095	38	1	182	1	ERN2	16	23702331	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	11677	23702331	66652422	11501	15117											
ERN2	10595	broad.mit.edu	37	16	23702503	23702503	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:23702503G>A	ENST00000256797.4	-	21	2827	c.2659C>T	c.(2659-2661)Cgg>Tgg	p.R887W	ERN2_ENST00000457008.2_Missense_Mutation_p.R787W	NM_033266.3	NP_150296.3	Q76MJ5	ERN2_HUMAN	endoplasmic reticulum to nucleus signaling 2	839	KEN.				apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity			large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		TTATAGGACCGGAACTTTCTC	0.627													8	90					0	0	1	0	0	A	23702503	G	A	23702503	3	1	81	1	0	0	0	0	1	0	0	0	5266	1115	39	1	273	1	ERN2	16	23702503	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	172	23702503	66652250	11502	15118											
CHP2	63928	broad.mit.edu	37	16	23767169	23767169	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:23767169C>T	ENST00000300113.2	+	3	565	c.142C>T	c.(142-144)Cgc>Tgc	p.R48C		NM_022097.2	NP_071380.1	O43745	CHP2_HUMAN	calcineurin-like EF-hand protein 2	48	EF-hand 1.						calcium ion binding			central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|stomach(1)	9				GBM - Glioblastoma multiforme(48;0.0144)		GCTTTGCAGCCGCATGGATCT	0.567													20	33					0	0	1	0	0	T	23767169	C	T	23767169	5	4	81	1	0	0	0	0	0	0	1	0	3389	666	23	1	152	1	CHP2	16	23767169	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	64666	23767169	66587584	11503	15119											
RBBP6	5930	broad.mit.edu	37	16	24567681	24567681	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:24567681G>T	ENST00000319715.4	+	7	1019	c.587G>T	c.(586-588)aGa>aTa	p.R196I	RBBP6_ENST00000381039.3_Missense_Mutation_p.R196I|RBBP6_ENST00000348022.2_Missense_Mutation_p.R196I	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	196					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		GGAATTCCCAGAAGTTTCATG	0.368													22	33					2.89027e-11	3.57291e-11	1	1	0	T	24567681	G	T	24567681	3	4	81	1	0	0	0	0	1	0	0	0	13155	942	33	4	667	4	RBBP6	16	24567681	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	800512	24567681	65787072	11504	15120											
RBBP6	5930	broad.mit.edu	37	16	24578499	24578499	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:24578499C>A	ENST00000319715.4	+	15	2057	c.1625C>A	c.(1624-1626)tCa>tAa	p.S542*	RBBP6_ENST00000381039.3_Intron|RBBP6_ENST00000348022.2_Nonsense_Mutation_p.S542*	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	542					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		AGCGAAAGATCACAGAGGACT	0.458													23	40					4.26978e-12	5.32034e-12	1	1	0	A	24578499	C	A	24578499	4	1	81	1	0	0	0	0	0	1	0	0	13155	838	29	5	1737	5	RBBP6	16	24578499	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	10818	24578499	65776254	11505	15121											
RBBP6	5930	broad.mit.edu	37	16	24580425	24580425	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:24580425C>A	ENST00000319715.4	+	17	2846	c.2414C>A	c.(2413-2415)cCa>cAa	p.P805Q	RBBP6_ENST00000381039.3_Intron|RBBP6_ENST00000348022.2_Missense_Mutation_p.P771Q	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	805					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		GTTCCACCACCATATGACATG	0.393													4	71					0.00909568	0.00944708	1	1	0	A	24580425	C	A	24580425	3	1	81	1	0	0	0	0	1	0	0	0	13155	594	21	5	2534	5	RBBP6	16	24580425	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1926	24580425	65774328	11506	15122											
RBBP6	5930	broad.mit.edu	37	16	24581121	24581121	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:24581121C>A	ENST00000319715.4	+	17	3542	c.3110C>A	c.(3109-3111)cCt>cAt	p.P1037H	RBBP6_ENST00000381039.3_Intron|RBBP6_ENST00000348022.2_Missense_Mutation_p.P1003H	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	1037	Interaction with RB1 (By similarity).				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		ATTGTAAAACCTGCTAAAGGA	0.403													41	46					3.76604e-16	4.8247e-16	1	1	0	A	24581121	C	A	24581121	3	1	81	1	0	0	0	0	1	0	0	0	13155	681	24	4	3230	4	RBBP6	16	24581121	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	696	24581121	65773632	11507	15123											
TNRC6A	27327	broad.mit.edu	37	16	24801111	24801111	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:24801111C>A	ENST00000395799.3	+	6	1277	c.1148C>A	c.(1147-1149)cCt>cAt	p.P383H	TNRC6A_ENST00000315183.7_Missense_Mutation_p.P383H	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	383	Sufficient for interaction with EIF2C1, EIF2C3 and EIF2C4.|Sufficient for interaction with EIF2C2.				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		CTAAAAGGGCCTGTAGGGAGT	0.438													10	58					0.00829132	0.00865729	1	1	0	A	24801111	C	A	24801111	3	1	81	1	0	0	0	0	1	0	0	0	16400	681	24	4	1170	4	TNRC6A	16	24801111	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	219990	24801111	65553642	11508	15124											
TNRC6A	27327	broad.mit.edu	37	16	24815620	24815620	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:24815620C>T	ENST00000395799.3	+	12	3946	c.3817C>T	c.(3817-3819)Cgc>Tgc	p.R1273C	CTD-2515A14.1_ENST00000568895.1_RNA|TNRC6A_ENST00000315183.7_Missense_Mutation_p.R1273C	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	1273	Sufficient for interaction with EIF2C1 and EIF2C4.				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		TTCCATGGAGCGCAATCCTTA	0.378													13	43					0	0	1	0	0	T	24815620	C	T	24815620	3	4	81	1	0	0	0	0	1	0	0	0	16400	768	27	1	3863	1	TNRC6A	16	24815620	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	14509	24815620	65539133	11509	15125											
SLC5A11	115584	broad.mit.edu	37	16	24888627	24888627	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:24888627G>A	ENST00000347898.3	+	7	1148	c.526G>A	c.(526-528)Gat>Aat	p.D176N	SLC5A11_ENST00000568579.1_Missense_Mutation_p.D106N|SLC5A11_ENST00000565769.1_Missense_Mutation_p.D112N|SLC5A11_ENST00000567758.1_Missense_Mutation_p.D141N|SLC5A11_ENST00000539472.1_Missense_Mutation_p.D112N|SLC5A11_ENST00000424767.2_Missense_Mutation_p.D141N|SLC5A11_ENST00000569071.1_Missense_Mutation_p.D112N|SLC5A11_ENST00000449109.2_Missense_Mutation_p.D112N|SLC5A11_ENST00000545376.1_Missense_Mutation_p.D106N	NM_052944.3	NP_443176.2	Q8WWX8	SC5AB_HUMAN	solute carrier family 5 (sodium/inositol cotransporter), member 11	176					apoptosis|carbohydrate transport|sodium ion transport	integral to membrane|plasma membrane	polyol transmembrane transporter activity|symporter activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(30)|ovary(2)|prostate(2)|urinary_tract(1)	49				GBM - Glioblastoma multiforme(48;0.0365)		TTTGCACCTGGATCTGTACCT	0.483													151	183					0	0	1	0	0	A	24888627	G	A	24888627	3	1	81	1	0	0	0	0	1	0	0	0	14718	1174	41	2	548	2	SLC5A11	16	24888627	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	73007	24888627	65466126	11510	15126											
ARHGAP17	55114	broad.mit.edu	37	16	24942135	24942135	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:24942135T>C	ENST00000289968.6	-	19	2554	c.2485A>G	c.(2485-2487)Aca>Gca	p.T829A	ARHGAP17_ENST00000303665.5_Missense_Mutation_p.T751A|ARHGAP17_ENST00000441763.2_3'UTR	NM_001006634.1	NP_001006635.1	Q68EM7	RHG17_HUMAN	Rho GTPase activating protein 17	829					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|tight junction	GTPase activator activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|urinary_tract(2)	30				GBM - Glioblastoma multiforme(48;0.0407)		GTTGGTGCTGTGTTGGTGAGG	0.527													30	295					0	0	1	0	0	C	24942135	T	C	24942135	3	2	81	1	0	0	0	0	1	0	0	0	864	1696	59	3	168	3	ARHGAP17	16	24942135	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	53508	24942135	65412618	11511	15127											
LCMT1	51451	broad.mit.edu	37	16	25143737	25143737	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:25143737G>A	ENST00000399069.3	+	3	375	c.220G>A	c.(220-222)Gtc>Atc	p.V74I	LCMT1_ENST00000380966.4_Missense_Mutation_p.V74I	NM_016309.2	NP_057393.2	Q9UIC8	LCMT1_HUMAN	leucine carboxyl methyltransferase 1	74							protein binding|protein C-terminal carboxyl O-methyltransferase activity|S-adenosylmethionine-dependent methyltransferase activity								GBM - Glioblastoma multiforme(48;0.0336)	L-Leucine(DB00149)	TTTTGCTCGAGTCCATGGTGT	0.493													7	71					0	0	1	0	0	A	25143737	G	A	25143737	3	1	81	1	0	0	0	0	1	0	0	0	8717	1029	36	2	230	2	LCMT1	16	25143737	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	201602	25143737	65211016	11512	15128											
LCMT1	51451	broad.mit.edu	37	16	25175976	25175976	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:25175976C>T	ENST00000399069.3	+	7	782	c.627C>T	c.(625-627)tcC>tcT	p.S209S	LCMT1_ENST00000572869.1_3'UTR|LCMT1_ENST00000380966.4_Silent_p.S154S	NM_016309.2	NP_057393.2	Q9UIC8	LCMT1_HUMAN	leucine carboxyl methyltransferase 1	209							protein binding|protein C-terminal carboxyl O-methyltransferase activity|S-adenosylmethionine-dependent methyltransferase activity	p.S209S(1)							GBM - Glioblastoma multiforme(48;0.0336)	L-Leucine(DB00149)	CAGAGCAGTCCGCAAACCTCC	0.428													4	72					0	0	1	0	0	T	25175976	C	T	25175976	2	4	81	1	0	0	0	0	0	0	0	1	8717	639	23	1		1	LCMT1	16	25175976	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	32239	25175976	65178777	11513	15129											
LCMT1	51451	broad.mit.edu	37	16	25180518	25180518	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:25180518A>C	ENST00000399069.3	+	8	931	c.776A>C	c.(775-777)aAg>aCg	p.K259T	LCMT1_ENST00000572869.1_3'UTR|LCMT1_ENST00000380966.4_Missense_Mutation_p.K204T	NM_016309.2	NP_057393.2	Q9UIC8	LCMT1_HUMAN	leucine carboxyl methyltransferase 1	259							protein binding|protein C-terminal carboxyl O-methyltransferase activity|S-adenosylmethionine-dependent methyltransferase activity								GBM - Glioblastoma multiforme(48;0.0336)	L-Leucine(DB00149)	GAGACCTGCAAGTCATTAGAG	0.493													10	107					0	0	1	0	0	C	25180518	A	C	25180518	3	2	81	1	0	0	0	0	1	0	0	0	8717	72	3	5	806	5	LCMT1	16	25180518	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	4542	25180518	65174235	11514	15130											
ZKSCAN2	342357	broad.mit.edu	37	16	25255310	25255311	+	Frame_Shift_Ins	INS	-	-	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:25255310_25255311insG	ENST00000328086.7	-	6	2579_2580	c.1776_1777insC	c.(1774-1779)cccagcfs	p.S593fs		NM_001012981.4	NP_001012999.3	Q63HK3	ZKSC2_HUMAN	zinc finger with KRAB and SCAN domains 2	593					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36				GBM - Glioblastoma multiforme(48;0.0378)		TCTGGGGTGCTGGGGGAAGGAG	0.545													36	62	---	---	---	---						G	25255311	-	G	25255310	7	5	81	1	0	1	1	0	0	0	0	0	17745	1580	55	0	1134	0	ZKSCAN2	16	25255310	Frame_Shift_Ins	INS	-	TCGA-DU-6392-01A-11D-1705-08	74792	25255310	65099443	11515	15131											
ZKSCAN2	342357	broad.mit.edu	37	16	25258112	25258112	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:25258112C>A	ENST00000328086.7	-	5	2208	c.1405G>T	c.(1405-1407)Gat>Tat	p.D469Y		NM_001012981.4	NP_001012999.3	Q63HK3	ZKSC2_HUMAN	zinc finger with KRAB and SCAN domains 2	469					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36				GBM - Glioblastoma multiforme(48;0.0378)		TCATCAGAATCTTCTGCAGCT	0.443													14	126					3.35478e-16	4.29996e-16	1	1	0	A	25258112	C	A	25258112	3	1	81	1	0	0	0	0	1	0	0	0	17745	913	32	4	1510	4	ZKSCAN2	16	25258112	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2802	25258112	65096641	11516	15132											
ZKSCAN2	342357	broad.mit.edu	37	16	25258460	25258460	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:25258460C>T	ENST00000328086.7	-	5	1860	c.1057G>A	c.(1057-1059)Gca>Aca	p.A353T		NM_001012981.4	NP_001012999.3	Q63HK3	ZKSC2_HUMAN	zinc finger with KRAB and SCAN domains 2	353					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36				GBM - Glioblastoma multiforme(48;0.0378)		TTGAGAATTGCCAGGAAAGTC	0.468													34	59					0	0	1	0	0	T	25258460	C	T	25258460	3	4	81	1	0	0	0	0	1	0	0	0	17745	739	26	2	1858	2	ZKSCAN2	16	25258460	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	348	25258460	65096293	11517	15133											
ZKSCAN2	342357	broad.mit.edu	37	16	25263243	25263243	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:25263243G>A	ENST00000328086.7	-	4	1595	c.792C>T	c.(790-792)aaC>aaT	p.N264N		NM_001012981.4	NP_001012999.3	Q63HK3	ZKSC2_HUMAN	zinc finger with KRAB and SCAN domains 2	264	KRAB.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36				GBM - Glioblastoma multiforme(48;0.0378)		GGGAGACCACGTTCCCAACAT	0.448													33	47					0	0	1	0	0	A	25263243	G	A	25263243	2	1	81	1	0	0	0	0	0	0	0	1	17745	1136	40	1		1	ZKSCAN2	16	25263243	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	4783	25263243	65091510	11518	15134											
NSMCE1	197370	broad.mit.edu	37	16	27268844	27268844	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:27268844C>T	ENST00000361439.4	-	2	147	c.48G>A	c.(46-48)cgG>cgA	p.R16R		NM_145080.3	NP_659547.2	Q8WV22	NSE1_HUMAN	non-SMC element 1 homolog (S. cerevisiae)	16					DNA recombination|DNA repair|intracellular signal transduction	nucleus	zinc ion binding			endometrium(2)|large_intestine(2)|lung(3)	7						GGAGGAAGCGCCGGTGGACAT	0.542													42	47					0	0	1	0	0	T	27268844	C	T	27268844	2	4	81	1	0	0	0	0	0	0	0	1	10723	726	26	2		2	NSMCE1	16	27268844	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2005601	27268844	63085909	11519	15135											
IL21R	50615	broad.mit.edu	37	16	27460361	27460361	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:27460361C>T	ENST00000337929.3	+	9	1847	c.1374C>T	c.(1372-1374)gaC>gaT	p.D458D	IL21R_ENST00000564089.1_Silent_p.D458D|IL21R-AS1_ENST00000563191.1_RNA|IL21R_ENST00000395755.1_Silent_p.D458D|IL21R_ENST00000395754.4_Silent_p.D458D	NM_181078.2	NP_851564.1	Q9HBE5	IL21R_HUMAN	interleukin 21 receptor	458					natural killer cell activation	integral to membrane	interleukin-21 receptor activity			breast(2)|large_intestine(3)|lung(1)|ovary(2)	8						ATGGGGAGGACTGGGCTGGGG	0.662			T	BCL6	NHL								11	24					0	0	1	0	0	T	27460361	C	T	27460361	2	4	81	1	0	0	0	0	0	0	0	1	7715	564	20	2		2	IL21R	16	27460361	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	191517	27460361	62894392	11520	15136											
GTF3C1	2975	broad.mit.edu	37	16	27472858	27472858	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:27472858C>T	ENST00000356183.4	-	37	6158	c.6143G>A	c.(6142-6144)cGg>cAg	p.R2048Q	GTF3C1_ENST00000561623.1_Missense_Mutation_p.R2023Q	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	2048						transcription factor TFIIIC complex	DNA binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						CCAGCGCTTCCGGATGCAGCC	0.587													5	87					0	0	1	0	0	T	27472858	C	T	27472858	3	4	81	1	0	0	0	0	1	0	0	0	6913	652	23	1	190	1	GTF3C1	16	27472858	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	12497	27472858	62881895	11521	15137											
GTF3C1	2975	broad.mit.edu	37	16	27504543	27504543	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:27504543A>G	ENST00000356183.4	-	17	2868	c.2853T>C	c.(2851-2853)atT>atC	p.I951I	GTF3C1_ENST00000561623.1_Silent_p.I951I	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	951						transcription factor TFIIIC complex	DNA binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						GCTGCTGCCGAATGGGCCTGG	0.537													4	66					0	0	1	0	0	G	27504543	A	G	27504543	2	3	81	1	0	0	0	0	0	0	0	1	6913	242	9	3		3	GTF3C1	16	27504543	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	31685	27504543	62850210	11522	15138											
GTF3C1	2975	broad.mit.edu	37	16	27508992	27508992	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:27508992G>A	ENST00000356183.4	-	14	2331	c.2316C>T	c.(2314-2316)ggC>ggT	p.G772G	GTF3C1_ENST00000561623.1_Silent_p.G772G	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	772						transcription factor TFIIIC complex	DNA binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						GCGGGGTTATGCCCATTTTAT	0.418													27	65					0	0	1	0	0	A	27508992	G	A	27508992	2	1	81	1	0	0	0	0	0	0	0	1	6913	1306	46	2		2	GTF3C1	16	27508992	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	4449	27508992	62845761	11523	15139											
GTF3C1	2975	broad.mit.edu	37	16	27510034	27510034	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:27510034C>T	ENST00000356183.4	-	13	2097	c.2082G>A	c.(2080-2082)ccG>ccA	p.P694P	GTF3C1_ENST00000561623.1_Silent_p.P694P	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	694						transcription factor TFIIIC complex	DNA binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						GGTCCATGGACGGGTGCACCA	0.582													36	57					0	0	1	0	0	T	27510034	C	T	27510034	2	4	81	1	0	0	0	0	0	0	0	1	6913	523	19	1		1	GTF3C1	16	27510034	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1042	27510034	62844719	11524	15140											
GTF3C1	2975	broad.mit.edu	37	16	27518325	27518325	+	Silent	SNP	C	C	T	rs148269085		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:27518325C>T	ENST00000356183.4	-	9	1410	c.1395G>A	c.(1393-1395)tcG>tcA	p.S465S	GTF3C1_ENST00000561623.1_Silent_p.S465S	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	465						transcription factor TFIIIC complex	DNA binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						CAGGCAGAAGCGACTCCTCCT	0.597													18	25					0	0	1	0	0	T	27518325	C	T	27518325	2	4	81	1	0	0	0	0	0	0	0	1	6913	755	27	1		1	GTF3C1	16	27518325	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	8291	27518325	62836428	11525	15141											
GTF3C1	2975	broad.mit.edu	37	16	27518347	27518347	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:27518347A>G	ENST00000356183.4	-	9	1388	c.1373T>C	c.(1372-1374)cTg>cCg	p.L458P	GTF3C1_ENST00000561623.1_Missense_Mutation_p.L458P	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	458						transcription factor TFIIIC complex	DNA binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						CATAGACGCCAGGCTCACGGT	0.597													5	37					0	0	1	0	0	G	27518347	A	G	27518347	3	3	81	1	0	0	0	0	1	0	0	0	6913	188	7	3	5072	3	GTF3C1	16	27518347	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	22	27518347	62836406	11526	15142											
GTF3C1	2975	broad.mit.edu	37	16	27544670	27544670	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:27544670A>C	ENST00000356183.4	-	5	806	c.791T>G	c.(790-792)gTc>gGc	p.V264G	GTF3C1_ENST00000561623.1_Missense_Mutation_p.V264G	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	264						transcription factor TFIIIC complex	DNA binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						GCTCAGCATGACCGAAAGCTT	0.522													11	63					0	0	1	0	0	C	27544670	A	C	27544670	3	2	81	1	0	0	0	0	1	0	0	0	6913	275	10	5	5670	5	GTF3C1	16	27544670	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	26323	27544670	62810083	11527	15143											
GTF3C1	2975	broad.mit.edu	37	16	27544702	27544702	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:27544702G>C	ENST00000356183.4	-	5	774	c.759C>G	c.(757-759)agC>agG	p.S253R	GTF3C1_ENST00000561623.1_Missense_Mutation_p.S253R	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	253						transcription factor TFIIIC complex	DNA binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						TGTCGTATTTGCTCCTCCTGC	0.468													3	53					0	0	1	0	0	C	27544702	G	C	27544702	3	2	81	1	0	0	0	0	1	0	0	0	6913	1310	46	5	5702	5	GTF3C1	16	27544702	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	32	27544702	62810051	11528	15144											
KIAA0556	23247	broad.mit.edu	37	16	27751589	27751589	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:27751589C>T	ENST00000261588.4	+	15	1990	c.1971C>T	c.(1969-1971)ctC>ctT	p.L657L		NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	657										breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						AGCTTGGTCTCGGTTGCTCAC	0.502													6	44					0	0	1	0	0	T	27751589	C	T	27751589	2	4	81	1	0	0	0	0	0	0	0	1	8225	871	31	1		1	KIAA0556	16	27751589	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	206887	27751589	62603164	11529	15145											
KIAA0556	23247	broad.mit.edu	37	16	27789064	27789064	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:27789064G>A	ENST00000261588.4	+	26	4704	c.4685G>A	c.(4684-4686)cGc>cAc	p.R1562H		NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	1562										breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						AGGGACATCCGCCACCAGGAG	0.657													24	38					0	0	1	0	0	A	27789064	G	A	27789064	3	1	81	1	0	0	0	0	1	0	0	0	8225	1087	38	1	4787	1	KIAA0556	16	27789064	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	37475	27789064	62565689	11530	15146											
XPO6	23214	broad.mit.edu	37	16	28117818	28117818	+	Splice_Site	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:28117818T>A	ENST00000304658.5	-	19	2998	c.2498A>T	c.(2497-2499)gAt>gTt	p.D833V	XPO6_ENST00000565698.1_Splice_Site_p.D819V	NM_015171.3	NP_055986.1	Q96QU8	XPO6_HUMAN	exportin 6	833					protein export from nucleus		protein binding|protein transporter activity			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25						ATCAGTCACATCTGAGGAAAG	0.483													8	61					0	0	1	0	0	A	28117818	T	A	28117818	5	1	81	1	0	0	0	0	0	0	1	0	17508	1449	50	4	903	4	XPO6	16	28117818	Splice_Site	SNP	T	TCGA-DU-6392-01A-11D-1705-08	328754	28117818	62236935	11531	15147											
XPO6	23214	broad.mit.edu	37	16	28123322	28123322	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:28123322C>A	ENST00000304658.5	-	17	2657	c.2157G>T	c.(2155-2157)caG>caT	p.Q719H	XPO6_ENST00000565698.1_Missense_Mutation_p.Q705H	NM_015171.3	NP_055986.1	Q96QU8	XPO6_HUMAN	exportin 6	719					protein export from nucleus		protein binding|protein transporter activity			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25						ACACCAACACCTGGGCCTACA	0.602													3	7					0.004672	0.00489345	1	1	0	A	28123322	C	A	28123322	3	1	81	1	0	0	0	0	1	0	0	0	17508	680	24	4	1252	4	XPO6	16	28123322	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	5504	28123322	62231431	11532	15148											
XPO6	23214	broad.mit.edu	37	16	28187242	28187242	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:28187242C>T	ENST00000304658.5	-	4	882	c.382G>A	c.(382-384)Gac>Aac	p.D128N	XPO6_ENST00000565698.1_Missense_Mutation_p.D114N	NM_015171.3	NP_055986.1	Q96QU8	XPO6_HUMAN	exportin 6	128					protein export from nucleus		protein binding|protein transporter activity			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25						GTAAAAAAGTCGTGGTAGAAC	0.378													27	32					0	0	1	0	0	T	28187242	C	T	28187242	3	4	81	1	0	0	0	0	1	0	0	0	17508	884	31	1	3079	1	XPO6	16	28187242	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	63920	28187242	62167511	11533	15149											
SBK1	388228	broad.mit.edu	37	16	28328853	28328853	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:28328853C>T	ENST00000341901.4	+	2	930	c.141C>T	c.(139-141)agC>agT	p.S47S		NM_001024401.2	NP_001019572.1	Q52WX2	SBK1_HUMAN	SH3 domain binding kinase 1	47						cytoplasm	ATP binding|protein serine/threonine kinase activity			kidney(1)|lung(3)|ovary(1)	5						TGGCCGCCAGCGACGTCACCA	0.632											OREG0023701	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	23	25					0	0	1	0	0	T	28328853	C	T	28328853	2	4	81	1	0	0	0	0	0	0	0	1	13913	767	27	1		1	SBK1	16	28328853	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	141611	28328853	62025900	11534	15150											
CLN3	1201	broad.mit.edu	37	16	28493460	28493460	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:28493460C>T	ENST00000569430.1	-	15	1841	c.1022G>A	c.(1021-1023)cGc>cAc	p.R341H	CLN3_ENST00000355477.5_Missense_Mutation_p.R293H|CLN3_ENST00000360019.2_Missense_Mutation_p.R341H|CLN3_ENST00000395653.4_Missense_Mutation_p.R241H|CLN3_ENST00000567963.1_Intron|CLN3_ENST00000357857.9_Missense_Mutation_p.R287H|CLN3_ENST00000333496.9_Missense_Mutation_p.R317H|CLN3_ENST00000357806.7_Missense_Mutation_p.R242H|CLN3_ENST00000359984.7_Missense_Mutation_p.R341H|CLN3_ENST00000565316.1_Missense_Mutation_p.R324H|CLN3_ENST00000535392.1_Missense_Mutation_p.R263H|CLN3_ENST00000568224.1_Missense_Mutation_p.R263H|CLN3_ENST00000354630.5_Missense_Mutation_p.R324H|CLN3_ENST00000357076.5_Missense_Mutation_p.R231H			Q13286	CLN3_HUMAN	ceroid-lipofuscinosis, neuronal 3	341					amyloid precursor protein catabolic process|arginine transport|associative learning|autophagic vacuole fusion|cell death|cellular amino acid metabolic process|cytosolic calcium ion homeostasis|galactosylceramide metabolic process|globoside metabolic process|glucosylceramide metabolic process|ionotropic glutamate receptor signaling pathway|lysosomal lumen acidification|lysosomal lumen pH elevation|negative regulation of catalytic activity|negative regulation of macroautophagy|negative regulation of neuron apoptosis|negative regulation of proteolysis|neuromuscular process controlling balance|neurotransmitter metabolic process|protein catabolic process|protein folding|protein processing|receptor-mediated endocytosis|regulation of action potential|sphingomyelin metabolic process|vacuolar transport	autophagic vacuole|caveola|cytosol|early endosome|Golgi membrane|Golgi stack|integral to endoplasmic reticulum membrane|late endosome|lysosomal membrane|membrane fraction|mitochondrion|neuron projection|nucleus|synaptic vesicle|trans-Golgi network	unfolded protein binding			breast(1)|large_intestine(2)|lung(11)|upper_aerodigestive_tract(1)	15						GAAACGGATGCGACAGCAGCG	0.637													12	11					0	0	1	0	0	T	28493460	C	T	28493460	3	4	81	1	0	0	0	0	1	0	0	0	3566	768	27	1	306	1	CLN3	16	28493460	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	164607	28493460	61861293	11535	15151											
NUPR1	26471	broad.mit.edu	37	16	28549344	28549344	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:28549344C>T	ENST00000324873.6	-	2	511	c.245G>A	c.(244-246)cGc>cAc	p.R82H	NUPR1_ENST00000395641.2_Missense_Mutation_p.R100H	NM_001042483.1|NM_012385.2	NP_001035948.1|NP_036517.1	O60356	NUPR1_HUMAN	nuclear protein, transcriptional regulator, 1	82					cell growth|induction of apoptosis	nucleus				breast(1)|large_intestine(1)|lung(1)	3						TCTGTCTCAGCGCCGTGCCCC	0.622													10	196					0	0	1	0	0	T	28549344	C	T	28549344	3	4	81	1	0	0	0	0	1	0	0	0	10824	768	27	1	7	1	NUPR1	16	28549344	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	55884	28549344	61805409	11536	15152											
CCDC101	112869	broad.mit.edu	37	16	28596240	28596240	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:28596240C>T	ENST00000317058.3	+	3	269	c.82C>T	c.(82-84)Cgt>Tgt	p.R28C		NM_138414.2	NP_612423.1	Q96ES7	SGF29_HUMAN	coiled-coil domain containing 101	28					establishment of protein localization to chromatin|histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ada2/Gcn5/Ada3 transcription activator complex|SAGA-type complex	methylated histone residue binding			central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	10						ACAGGAAGAGCGTTCGCGGAG	0.557													15	32					0	0	1	0	0	T	28596240	C	T	28596240	3	4	81	1	0	0	0	0	1	0	0	0	2753	768	27	1	88	1	CCDC101	16	28596240	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	46896	28596240	61758513	11537	15153											
SULT1A2	6799	broad.mit.edu	37	16	28604833	28604833	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:28604833G>A	ENST00000395630.1	-	5	779	c.429C>T	c.(427-429)taC>taT	p.Y143Y	SULT1A2_ENST00000533150.1_Intron|SULT1A2_ENST00000335715.4_Silent_p.Y143Y	NM_177528.2	NP_803564	P50226	ST1A2_HUMAN	sulfotransferase family, cytosolic, 1A, phenol-preferring, member 2	143					3'-phosphoadenosine 5'-phosphosulfate metabolic process|amine biosynthetic process|catecholamine metabolic process|steroid metabolic process|sulfation|xenobiotic metabolic process	cytosol	aryl sulfotransferase activity|flavonol 3-sulfotransferase activity			NS(2)|breast(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(3)|skin(2)	14						TGGCCATGTGGTAGAAGTGGT	0.567													21	44					0	0	1	0	0	A	28604833	G	A	28604833	2	1	81	1	0	0	0	0	0	0	0	1	15429	1256	44	2		2	SULT1A2	16	28604833	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	8593	28604833	61749920	11538	15154											
ATXN2L	11273	broad.mit.edu	37	16	28844586	28844586	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:28844586G>A	ENST00000336783.4	+	14	2033	c.1866G>A	c.(1864-1866)gaG>gaA	p.E622E	ATXN2L_ENST00000565845.1_3'UTR|ATXN2L_ENST00000325215.6_Silent_p.E622E|RP11-24N18.1_ENST00000563565.1_RNA|ATXN2L_ENST00000382686.4_Silent_p.E622E|ATXN2L_ENST00000564304.1_Silent_p.E628E|ATXN2L_ENST00000570200.1_Silent_p.E622E|ATXN2L_ENST00000395547.2_Silent_p.E622E|ATXN2L_ENST00000340394.8_Silent_p.E622E	NM_007245.3	NP_009176.2	Q8WWM7	ATX2L_HUMAN	ataxin 2-like	622						membrane				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						AGGGGCCAGAGCAGCCCCCAC	0.617													23	59					0	0	1	0	0	A	28844586	G	A	28844586	2	1	81	1	0	0	0	0	0	0	0	1	1210	962	34	2		2	ATXN2L	16	28844586	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	239753	28844586	61510167	11539	15155											
ATXN2L	11273	broad.mit.edu	37	16	28846456	28846456	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:28846456C>A	ENST00000336783.4	+	19	2678	c.2511C>A	c.(2509-2511)tcC>tcA	p.S837S	ATXN2L_ENST00000565845.1_3'UTR|ATXN2L_ENST00000325215.6_Silent_p.S837S|RP11-24N18.1_ENST00000563565.1_RNA|ATXN2L_ENST00000382686.4_Silent_p.S837S|ATXN2L_ENST00000564304.1_Silent_p.S843S|ATXN2L_ENST00000570200.1_Silent_p.S837S|ATXN2L_ENST00000395547.2_Silent_p.S837S|ATXN2L_ENST00000340394.8_Silent_p.S837S	NM_007245.3	NP_009176.2	Q8WWM7	ATX2L_HUMAN	ataxin 2-like	837						membrane				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						TCGTGTCATCCTCTACCCCTC	0.642													33	79					6.84511e-11	8.4239e-11	1	1	0	A	28846456	C	A	28846456	2	1	81	1	0	0	0	0	0	0	0	1	1210	668	24	4		4	ATXN2L	16	28846456	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1870	28846456	61508297	11540	15156											
TUFM	7284	broad.mit.edu	37	16	28855565	28855565	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:28855565C>T	ENST00000313511.3	-	7	1046	c.908G>A	c.(907-909)cGc>cAc	p.R303H		NM_003321.4	NP_003312.3	P49411	EFTU_HUMAN	Tu translation elongation factor, mitochondrial	300						mitochondrial nucleoid	GTP binding|GTPase activity|protein binding|translation elongation factor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	13						CACCACAGTGCGGATGTTCTT	0.582													31	44					0	0	1	0	0	T	28855565	C	T	28855565	3	4	81	1	0	0	0	0	1	0	0	0	16833	768	27	1	475	1	TUFM	16	28855565	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	9109	28855565	61499188	11541	15157											
SH2B1	25970	broad.mit.edu	37	16	28877767	28877767	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:28877767G>A	ENST00000337120.5	+	1	3643	c.352G>A	c.(352-354)Gct>Act	p.A118T	SH2B1_ENST00000563674.1_Intron|SH2B1_ENST00000359285.5_Missense_Mutation_p.A118T|SH2B1_ENST00000545570.1_Intron|SH2B1_ENST00000395532.4_Missense_Mutation_p.A118T|SH2B1_ENST00000538342.1_Intron|SH2B1_ENST00000322610.8_Missense_Mutation_p.A118T	NM_001145812.1|NM_015503.2	NP_001139284.1|NP_056318.2	Q9NRF2	SH2B1_HUMAN	SH2B adaptor protein 1	118	Interaction with JAK2 (low-affinity binding; independent of JAK2 phosphorylation) (By similarity).|Interaction with RAC1 (By similarity).|Required for NGF signaling (By similarity).				blood coagulation|intracellular signal transduction	cytosol|membrane|nucleus	signal transducer activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						TGGGCCCCTGGCTGTGCTGGG	0.637													3	33					0	0	1	0	0	A	28877767	G	A	28877767	3	1	81	1	0	0	0	0	1	0	0	0	14281	1203	42	2	354	2	SH2B1	16	28877767	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	22202	28877767	61476986	11542	15158											
SH2B1	25970	broad.mit.edu	37	16	28883304	28883304	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:28883304G>T	ENST00000337120.5	+	5	4804	c.1513G>T	c.(1513-1515)Ggg>Tgg	p.G505W	SH2B1_ENST00000563674.1_Intron|SH2B1_ENST00000359285.5_Splice_Site_p.G505W|SH2B1_ENST00000545570.1_Splice_Site_p.G195W|SH2B1_ENST00000395532.4_Splice_Site_p.G505W|SH2B1_ENST00000538342.1_Splice_Site_p.G169W|SH2B1_ENST00000322610.8_Splice_Site_p.G505W	NM_001145812.1|NM_015503.2	NP_001139284.1|NP_056318.2	Q9NRF2	SH2B1_HUMAN	SH2B adaptor protein 1	505	Interaction with JAK2 (low-affinity binding; independent of JAK2 phosphorylation) (By similarity).				blood coagulation|intracellular signal transduction	cytosol|membrane|nucleus	signal transducer activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						AACAGCCACAGGTACCGGAGG	0.642													9	18					6.40141e-05	7.07494e-05	1	1	0	T	28883304	G	T	28883304	5	4	81	1	0	0	0	0	0	0	1	0	14281	1014	35	4	1531	4	SH2B1	16	28883304	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	5537	28883304	61471449	11543	15159											
RABEP2	79874	broad.mit.edu	37	16	28925758	28925758	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:28925758G>A	ENST00000358201.4	-	5	1281	c.693C>T	c.(691-693)agC>agT	p.S231S	RABEP2_ENST00000544477.1_Silent_p.S160S|RABEP2_ENST00000357573.6_Silent_p.S231S	NM_024816.2	NP_079092.2	Q9H5N1	RABE2_HUMAN	rabaptin, RAB GTPase binding effector protein 2	231					endocytosis|protein transport	early endosome	growth factor activity|GTPase activator activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	16						AGATGGAGGCGCTGTCATCGC	0.682													15	21					0	0	1	0	0	A	28925758	G	A	28925758	2	1	81	1	0	0	0	0	0	0	0	1	13014	1078	38	1		1	RABEP2	16	28925758	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	42454	28925758	61428995	11544	15160	75	2									
RABEP2	79874	broad.mit.edu	37	16	28925767	28925767	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:28925767G>A	ENST00000358201.4	-	5	1272	c.684C>T	c.(682-684)tgC>tgT	p.C228C	RABEP2_ENST00000544477.1_Silent_p.C157C|RABEP2_ENST00000357573.6_Silent_p.C228C	NM_024816.2	NP_079092.2	Q9H5N1	RABE2_HUMAN	rabaptin, RAB GTPase binding effector protein 2	228					endocytosis|protein transport	early endosome	growth factor activity|GTPase activator activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	16						CGCTGTCATCGCAGTTGTGAG	0.677													13	19					0	0	1	0	0	A	28925767	G	A	28925767	2	1	81	1	0	0	0	0	0	0	0	1	13014	1079	38	1		1	RABEP2	16	28925767	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	9	28925767	61428986	11545	15161	75	2									
SPNS1	83985	broad.mit.edu	37	16	28990543	28990543	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:28990543C>T	ENST00000311008.11	+	4	889	c.512C>T	c.(511-513)gCg>gTg	p.A171V	SPNS1_ENST00000561868.1_3'UTR|SPNS1_ENST00000323081.8_Missense_Mutation_p.A98V|SPNS1_ENST00000565975.1_Missense_Mutation_p.A216V|SPNS1_ENST00000352260.7_Missense_Mutation_p.A149V|RP11-264B17.3_ENST00000569969.1_RNA|SPNS1_ENST00000334536.8_Missense_Mutation_p.A171V	NM_032038.2	NP_114427.1	Q9H2V7	SPNS1_HUMAN	spinster homolog 1 (Drosophila)	171					lipid transport|transmembrane transport	integral to membrane|mitochondrial inner membrane	protein binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)|urinary_tract(1)	21						TCCACCATCGCGCCCACTCTC	0.657													21	48					0	0	1	0	0	T	28990543	C	T	28990543	3	4	81	1	0	0	0	0	1	0	0	0	15130	768	27	1	526	1	SPNS1	16	28990543	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	64776	28990543	61364210	11546	15162											
SPNS1	83985	broad.mit.edu	37	16	28994535	28994535	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:28994535G>A	ENST00000311008.11	+	10	1621	c.1244G>A	c.(1243-1245)cGc>cAc	p.R415H	SPNS1_ENST00000323081.8_Missense_Mutation_p.R342H|SPNS1_ENST00000565975.1_Missense_Mutation_p.R460H|SPNS1_ENST00000352260.7_Missense_Mutation_p.R341H|RP11-264B17.3_ENST00000569969.1_RNA|SPNS1_ENST00000334536.8_Missense_Mutation_p.R363H	NM_032038.2	NP_114427.1	Q9H2V7	SPNS1_HUMAN	spinster homolog 1 (Drosophila)	415					lipid transport|transmembrane transport	integral to membrane|mitochondrial inner membrane	protein binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)|urinary_tract(1)	21						CCTACCCGACGCTCCACCGCC	0.632													16	30					0	0	1	0	0	A	28994535	G	A	28994535	3	1	81	1	0	0	0	0	1	0	0	0	15130	1087	38	1	1282	1	SPNS1	16	28994535	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	3992	28994535	61360218	11547	15163											
SPNS1	83985	broad.mit.edu	37	16	28995229	28995229	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:28995229C>T	ENST00000311008.11	+	11	1820	c.1443C>T	c.(1441-1443)acC>acT	p.T481T	SPNS1_ENST00000323081.8_Silent_p.T408T|SPNS1_ENST00000565975.1_Silent_p.T526T|SPNS1_ENST00000352260.7_Silent_p.T407T|RP11-264B17.3_ENST00000569969.1_RNA|SPNS1_ENST00000334536.8_Silent_p.T429T	NM_032038.2	NP_114427.1	Q9H2V7	SPNS1_HUMAN	spinster homolog 1 (Drosophila)	481					lipid transport|transmembrane transport	integral to membrane|mitochondrial inner membrane	protein binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)|urinary_tract(1)	21						TCCTGGGCACCGCCATCTTCA	0.652													27	38					0	0	1	0	0	T	28995229	C	T	28995229	2	4	81	1	0	0	0	0	0	0	0	1	15130	639	23	1		1	SPNS1	16	28995229	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	694	28995229	61359524	11548	15164											
LAT	27040	broad.mit.edu	37	16	28997063	28997063	+	Splice_Site	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:28997063T>C	ENST00000395456.2	+	2	450		c.e2+2		LAT_ENST00000564277.1_Splice_Site|LAT_ENST00000395461.3_Splice_Site|LAT_ENST00000360872.5_Splice_Site|LAT_ENST00000563964.1_Splice_Site|LAT_ENST00000566177.1_Splice_Site|LAT_ENST00000454369.2_Splice_Site|LAT_ENST00000354453.4_Splice_Site|RP11-264B17.3_ENST00000569969.1_RNA	NM_001014987.1|NM_001014988.1|NM_014387.3	NP_001014987.1|NP_001014988.1|NP_055202.1	O43561	LAT_HUMAN	linker for activation of T cells						calcium-mediated signaling|integrin-mediated signaling pathway|mast cell degranulation|platelet activation|Ras protein signal transduction|regulation of T cell activation|T cell receptor signaling pathway	immunological synapse|integral to membrane|intracellular|membrane raft	SH3/SH2 adaptor activity			large_intestine(2)|lung(3)|urinary_tract(1)	6		Hepatocellular(780;0.244)				CTCAGATAGGTGAGTCCGCCC	0.647													74	103					0	0	1	0	0	C	28997063	T	C	28997063	5	2	81	1	0	0	0	0	0	0	1	0	8683	1710	59	3	248	3	LAT	16	28997063	Splice_Site	SNP	T	TCGA-DU-6392-01A-11D-1705-08	1834	28997063	61357690	11549	15165											
SPN	6693	broad.mit.edu	37	16	29675059	29675059	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:29675059C>T	ENST00000360121.3	+	2	102	c.10C>T	c.(10-12)Ctt>Ttt	p.L4F	SPN_ENST00000395389.2_Missense_Mutation_p.L4F	NM_001030288.2|NM_003123.4	NP_001025459.1|NP_003114.1	P16150	LEUK_HUMAN	sialophorin	4					blood coagulation|cellular defense response|chemotaxis|defense response to bacterium|establishment or maintenance of cell polarity|immune response|leukocyte migration|negative regulation of cell adhesion|positive regulation of tumor necrosis factor biosynthetic process	extracellular space|integral to plasma membrane	bacterial cell surface binding|transmembrane receptor activity			central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)|stomach(1)	15						AATGGCCACGCTTCTCCTTCT	0.627													80	118					0	0	1	0	0	T	29675059	C	T	29675059	3	4	81	1	0	0	0	0	1	0	0	0	15129	797	28	2	12	2	SPN	16	29675059	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	677996	29675059	60679694	11550	15166											
SPN	6693	broad.mit.edu	37	16	29676225	29676225	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:29676225C>T	ENST00000360121.3	+	2	1268	c.1176C>T	c.(1174-1176)ccC>ccT	p.P392P	SPN_ENST00000395389.2_Silent_p.P392P	NM_001030288.2|NM_003123.4	NP_001025459.1|NP_003114.1	P16150	LEUK_HUMAN	sialophorin	392					blood coagulation|cellular defense response|chemotaxis|defense response to bacterium|establishment or maintenance of cell polarity|immune response|leukocyte migration|negative regulation of cell adhesion|positive regulation of tumor necrosis factor biosynthetic process	extracellular space|integral to plasma membrane	bacterial cell surface binding|transmembrane receptor activity			central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)|stomach(1)	15						CTGATGAGCCCGAAGGGGGAG	0.642													5	20					0	0	1	0	0	T	29676225	C	T	29676225	2	4	81	1	0	0	0	0	0	0	0	1	15129	639	23	1		1	SPN	16	29676225	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1166	29676225	60678528	11551	15167											
KIF22	3835	broad.mit.edu	37	16	29810712	29810712	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:29810712C>A	ENST00000561482.1	+	6	1320	c.683C>A	c.(682-684)gCc>gAc	p.A228D	KIF22_ENST00000160827.4_Missense_Mutation_p.A296D|KIF22_ENST00000563263.1_3'UTR|KIF22_ENST00000400751.5_Missense_Mutation_p.A228D|KIF22_ENST00000569382.2_Missense_Mutation_p.A228D|KIF22_ENST00000400750.2_5'UTR	NM_001256270.1	NP_001243199.1	Q14807	KIF22_HUMAN	kinesin family member 22	296	Kinesin-motor.				blood coagulation|DNA repair|microtubule-based movement|mitosis	cytosol|kinetochore|microtubule|nucleus	ATP binding|DNA binding|microtubule motor activity|protein binding			endometrium(1)|large_intestine(1)|lung(11)|skin(1)	14						GAGAGTGGAGCCATCAACACC	0.557													18	43					1.37522e-17	1.77587e-17	1	1	0	A	29810712	C	A	29810712	3	1	81	1	0	0	0	0	1	0	0	0	8332	739	26	5	909	5	KIF22	16	29810712	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	134487	29810712	60544041	11552	15168											
KIF22	3835	broad.mit.edu	37	16	29814854	29814854	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:29814854C>A	ENST00000561482.1	+	10	1967	c.1330C>A	c.(1330-1332)Ctc>Atc	p.L444I	KIF22_ENST00000160827.4_Missense_Mutation_p.L512I|KIF22_ENST00000400751.5_Missense_Mutation_p.L444I|KIF22_ENST00000569382.2_Missense_Mutation_p.L444I|KIF22_ENST00000400750.2_Missense_Mutation_p.L17I	NM_001256270.1	NP_001243199.1	Q14807	KIF22_HUMAN	kinesin family member 22	512				APASASQKLSPLQKLSSMDPAMLERLLSLDRLLASQGSQ -> SSSLCLPETQPPTEAKAAWTRPCGAPPQLGPSACLPGE P (in Ref. 2; BAA33063).	blood coagulation|DNA repair|microtubule-based movement|mitosis	cytosol|kinetochore|microtubule|nucleus	ATP binding|DNA binding|microtubule motor activity|protein binding			endometrium(1)|large_intestine(1)|lung(11)|skin(1)	14						TCCCACAATGCTCCGGCCCCT	0.532													14	17					1.05317e-09	1.27674e-09	1	1	0	A	29814854	C	A	29814854	3	1	81	1	0	0	0	0	1	0	0	0	8332	797	28	4	1572	4	KIF22	16	29814854	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	4142	29814854	60539899	11553	15169											
TAOK2	9344	broad.mit.edu	37	16	29989110	29989110	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:29989110G>A	ENST00000308893.4	+	2	1060	c.17G>A	c.(16-18)cGg>cAg	p.R6Q	TAOK2_ENST00000279394.3_Missense_Mutation_p.R6Q|TAOK2_ENST00000543033.1_Missense_Mutation_p.R6Q	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	6					actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						GCTGGGGGCCGGGCCGGGAGC	0.602													3	23					0	0	1	0	0	A	29989110	G	A	29989110	3	1	81	1	0	0	0	0	1	0	0	0	15605	1116	39	1	19	1	TAOK2	16	29989110	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	174256	29989110	60365643	11554	15170											
TAOK2	9344	broad.mit.edu	37	16	29989643	29989643	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:29989643G>A	ENST00000308893.4	+	4	1318	c.275G>A	c.(274-276)cGg>cAg	p.R92Q	TAOK2_ENST00000279394.3_Missense_Mutation_p.R92Q|TAOK2_ENST00000543033.1_Missense_Mutation_p.R92Q	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	92	Protein kinase.				actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						ATTCAGTACCGGGGCTGTTAC	0.547													56	117					0	0	1	0	0	A	29989643	G	A	29989643	3	1	81	1	0	0	0	0	1	0	0	0	15605	1116	39	1	285	1	TAOK2	16	29989643	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	533	29989643	60365110	11555	15171											
TAOK2	9344	broad.mit.edu	37	16	29994972	29994972	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:29994972G>A	ENST00000308893.4	+	13	2452	c.1409G>A	c.(1408-1410)cGa>cAa	p.R470Q	TAOK2_ENST00000416441.2_Missense_Mutation_p.R297Q|TAOK2_ENST00000279394.3_Missense_Mutation_p.R470Q|TAOK2_ENST00000543033.1_Missense_Mutation_p.R470Q	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	470					actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						GCCACCATCCGAACCGCCTCC	0.587													91	98					0	0	1	0	0	A	29994972	G	A	29994972	3	1	81	1	0	0	0	0	1	0	0	0	15605	1058	37	1	1455	1	TAOK2	16	29994972	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	5329	29994972	60359781	11556	15172											
TAOK2	9344	broad.mit.edu	37	16	29998656	29998656	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:29998656C>A	ENST00000308893.4	+	16	4106	c.3063C>A	c.(3061-3063)gcC>gcA	p.A1021A	TAOK2_ENST00000416441.2_Silent_p.A848A|TAOK2_ENST00000279394.3_Intron|TAOK2_ENST00000543033.1_Silent_p.A908A	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	1021	Leu-rich.				actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						TACTCCTGGCCCAGGGTACCG	0.677													3	22					0.150653	0.152522	1	1	0	A	29998656	C	A	29998656	2	1	81	1	0	0	0	0	0	0	0	1	15605	610	22	5		5	TAOK2	16	29998656	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3684	29998656	60356097	11557	15173											
HIRIP3	8479	broad.mit.edu	37	16	30004867	30004867	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:30004867G>A	ENST00000564026.1	-	5	519	c.482C>T	c.(481-483)cCt>cTt	p.P161L	HIRIP3_ENST00000279392.3_Silent_p.L474L	NM_001197323.1	NP_001184252.1	Q9BW71	HIRP3_HUMAN	HIRA interacting protein 3	0	Glu-rich.				chromatin assembly or disassembly	nucleus	protein binding			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(9)	17						CACTTCCCTAGGGAAGGGGTA	0.632													17	34					0	0	1	0	0	A	30004867	G	A	30004867	3	1	81	1	0	0	0	0	1	0	0	0	7162	991	35	2	258	2	HIRIP3	16	30004867	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	6211	30004867	60349886	11558	15174											
HIRIP3	8479	broad.mit.edu	37	16	30005816	30005816	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:30005816G>T	ENST00000279392.3	-	4	1480	c.650C>A	c.(649-651)aCt>aAt	p.T217N	HIRIP3_ENST00000564026.1_Intron	NM_003609.4	NP_003600.2	Q9BW71	HIRP3_HUMAN	HIRA interacting protein 3	217	Glu-rich.				chromatin assembly or disassembly	nucleus	protein binding			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(9)	17						CAGGCTTTTAGTTCCTTTATT	0.507													87	125					2.36867e-37	3.17622e-37	1	1	0	T	30005816	G	T	30005816	3	4	81	1	0	0	0	0	1	0	0	0	7162	1029	36	4	1036	4	HIRIP3	16	30005816	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	949	30005816	60348937	11559	15175											
PPP4C	5531	broad.mit.edu	37	16	30096138	30096138	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:30096138G>A	ENST00000279387.7	+	8	924	c.756G>A	c.(754-756)acG>acA	p.T252T	PPP4C_ENST00000561610.1_Silent_p.T252T	NM_002720.1	NP_002711.1	P60510	PP4C_HUMAN	protein phosphatase 4, catalytic subunit	252					microtubule cytoskeleton organization|regulation of double-strand break repair via homologous recombination	centrosome|nucleus	metal ion binding|NF-kappaB-inducing kinase activity|protein binding|protein serine/threonine phosphatase activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|lung(2)|pancreas(1)|skin(1)|urinary_tract(1)	9						TCAATGAGACGGTGCTCACTG	0.612													48	80					0	0	1	0	0	A	30096138	G	A	30096138	2	1	81	1	0	0	0	0	0	0	0	1	12451	1103	39	1		1	PPP4C	16	30096138	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	90322	30096138	60258615	11560	15176											
TBX6	6911	broad.mit.edu	37	16	30097613	30097613	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:30097613C>T	ENST00000395224.2	-	9	1303	c.1244G>A	c.(1243-1245)gGc>gAc	p.G415D	TBX6_ENST00000279386.2_Missense_Mutation_p.G415D	NM_004608.3	NP_004599.2	O95947	TBX6_HUMAN	T-box 6	415					anatomical structure morphogenesis|mesoderm development|multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)	9						AGGGAAGGGGCCCCCTTGGAG	0.642													19	19					0	0	1	0	0	T	30097613	C	T	30097613	3	4	81	1	0	0	0	0	1	0	0	0	15722	739	26	2	70	2	TBX6	16	30097613	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1475	30097613	60257140	11561	15177											
MAPK3	5595	broad.mit.edu	37	16	30128550	30128550	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:30128550G>A	ENST00000484663.1	-	5	1623	c.490C>T	c.(490-492)Cga>Tga	p.R164*	MAPK3_ENST00000395202.1_Intron|MAPK3_ENST00000322266.5_Intron|MAPK3_ENST00000403394.1_Nonsense_Mutation_p.R278*|MAPK3_ENST00000395200.1_Nonsense_Mutation_p.R210*|MAPK3_ENST00000395199.3_Nonsense_Mutation_p.R278*|MAPK3_ENST00000263025.4_Nonsense_Mutation_p.R278*			P27361	MK03_HUMAN	mitogen-activated protein kinase 3	278	Protein kinase.				activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle|cellular response to mechanical stimulus|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|interleukin-1-mediated signaling pathway|interspecies interaction between organisms|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|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 initiation from RNA polymerase I promoter	cytosol|nucleoplasm	ATP binding|MAP kinase activity|phosphatase binding									Arsenic trioxide(DB01169)|Isoproterenol(DB01064)|Simvastatin(DB00641)|Sulindac(DB00605)	AGGTAGTTTCGGGCCTTCATG	0.517													15	43					0	0	1	0	0	A	30128550	G	A	30128550	4	1	81	1	0	0	0	0	0	1	0	0	9329	1124	39	1	376	1	MAPK3	16	30128550	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	30937	30128550	60226203	11562	15178											
MAPK3	5595	broad.mit.edu	37	16	30134477	30134478	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:30134477_30134478insA	ENST00000403394.1	-	1	152_153	c.53_54insT	c.(52-54)gagfs	p.E18fs	MAPK3_ENST00000263025.4_Frame_Shift_Ins_p.E18fs|MAPK3_ENST00000395199.3_Frame_Shift_Ins_p.E18fs|MAPK3_ENST00000322266.5_Frame_Shift_Ins_p.E18fs|MAPK3_ENST00000395202.1_Frame_Shift_Ins_p.E18fs	NM_001040056.1	NP_001035145.1	P27361	MK03_HUMAN	mitogen-activated protein kinase 3	18					activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle|cellular response to mechanical stimulus|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|interleukin-1-mediated signaling pathway|interspecies interaction between organisms|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|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 initiation from RNA polymerase I promoter	cytosol|nucleoplasm	ATP binding|MAP kinase activity|phosphatase binding									Arsenic trioxide(DB01169)|Isoproterenol(DB01064)|Simvastatin(DB00641)|Sulindac(DB00605)	GGCCGACCCCCTCGGTTCTACG	0.772													4	7	---	---	---	---						A	30134478	-	A	30134477	7	5	81	1	0	1	1	0	0	0	0	0	9329	680	24	0	1174	0	MAPK3	16	30134477	Frame_Shift_Ins	INS	-	TCGA-DU-6392-01A-11D-1705-08	5927	30134477	60220276	11563	15179											
CD2BP2	10421	broad.mit.edu	37	16	30364965	30364965	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:30364965G>A	ENST00000305596.3	-	5	707	c.532C>T	c.(532-534)Ctg>Ttg	p.L178L	CD2BP2_ENST00000569466.1_Silent_p.L178L	NM_006110.2	NP_006101.1	O95400	CD2B2_HUMAN	CD2 (cytoplasmic tail) binding protein 2	178					assembly of spliceosomal tri-snRNP	cytoplasm|nucleoplasm|U5 snRNP	protein binding|ribonucleoprotein binding			breast(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)	15						CGGGCCCCCAGACGCCTCAGT	0.647													6	10					0	0	1	0	0	A	30364965	G	A	30364965	2	1	81	1	0	0	0	0	0	0	0	1	3017	933	33	2		2	CD2BP2	16	30364965	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	230488	30364965	59989788	11564	15180											
TBC1D10B	26000	broad.mit.edu	37	16	30370615	30370615	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:30370615C>T	ENST00000409939.3	-	7	1600	c.1520G>A	c.(1519-1521)cGc>cAc	p.R507H		NM_015527.3	NP_056342.3	Q4KMP7	TB10B_HUMAN	TBC1 domain family, member 10B	507	Rab-GAP TBC.					cytoplasm	Rab GTPase activator activity			endometrium(2)|kidney(1)|lung(2)|urinary_tract(1)	6			Colorectal(24;0.193)			CCGCAGGTGGCGATGCGCCAG	0.652													8	3					0	0	1	0	0	T	30370615	C	T	30370615	3	4	81	1	0	0	0	0	1	0	0	0	15656	768	27	1	918	1	TBC1D10B	16	30370615	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	5650	30370615	59984138	11565	15181											
ZNF48	197407	broad.mit.edu	37	16	30409126	30409126	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:30409126C>A	ENST00000320159.2	+	2	931	c.555C>A	c.(553-555)atC>atA	p.I185I		NM_001214906.1|NM_001214907.1|NM_001214909.1|NM_152652.2	NP_001201835.1|NP_001201836.1|NP_001201838.1|NP_689865.2	Q96MX3	ZNF48_HUMAN	zinc finger protein 48	185					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(11)|ovary(2)|pancreas(1)|skin(1)	21						GGTCCCGGATCCCTGCTGGTG	0.607													14	48					6.31663e-08	7.44777e-08	1	1	0	A	30409126	C	A	30409126	2	1	81	1	0	0	0	0	0	0	0	1	17991	845	30	5		5	ZNF48	16	30409126	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	38511	30409126	59945627	11566	15182											
ZNF48	197407	broad.mit.edu	37	16	30409537	30409537	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:30409537G>A	ENST00000320159.2	+	2	1342	c.966G>A	c.(964-966)ctG>ctA	p.L322L		NM_001214906.1|NM_001214907.1|NM_001214909.1|NM_152652.2	NP_001201835.1|NP_001201836.1|NP_001201838.1|NP_689865.2	Q96MX3	ZNF48_HUMAN	zinc finger protein 48	322					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(11)|ovary(2)|pancreas(1)|skin(1)	21						TGAAGCACCTGCGGGTGCACA	0.632													4	47					0	0	1	0	0	A	30409537	G	A	30409537	2	1	81	1	0	0	0	0	0	0	0	1	17991	1306	46	2		2	ZNF48	16	30409537	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	411	30409537	59945216	11567	15183											
ITGAL	3683	broad.mit.edu	37	16	30490414	30490414	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:30490414C>A	ENST00000356798.6	+	5	510	c.330C>A	c.(328-330)gcC>gcA	p.A110A	ITGAL_ENST00000358164.5_Intron|ITGAL_ENST00000433423.2_Intron|ITGAL_ENST00000454514.2_Silent_p.A110A|RP11-297C4.2_ENST00000569459.1_RNA	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	110					blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	integrin complex	cell adhesion molecule binding|receptor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Efalizumab(DB00095)	TTCTTTAGGCCTGTGACCCTG	0.517													10	45					1.76689e-08	2.10148e-08	1	1	0	A	30490414	C	A	30490414	2	1	81	1	0	0	0	0	0	0	0	1	7930	668	24	4		4	ITGAL	16	30490414	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	80877	30490414	59864339	11568	15184											
ZNF768	79724	broad.mit.edu	37	16	30536215	30536215	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:30536215G>T	ENST00000380412.5	-	2	1421	c.1246C>A	c.(1246-1248)Ctt>Att	p.L416I	ZNF768_ENST00000562803.1_Missense_Mutation_p.L385I	NM_024671.3	NP_078947.3	Q9H5H4	ZN768_HUMAN	zinc finger protein 768	416					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						TGGGGGATAAGGGCCGACCGC	0.667													5	36					0.184627	0.18622	1	1	0	T	30536215	G	T	30536215	3	4	81	1	0	0	0	0	1	0	0	0	18191	1000	35	4	380	4	ZNF768	16	30536215	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	45801	30536215	59818538	11569	15185											
ZNF764	92595	broad.mit.edu	37	16	30567320	30567320	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:30567320G>A	ENST00000395091.2	-	3	734	c.419C>T	c.(418-420)tCg>tTg	p.S140L	ZNF764_ENST00000252797.2_Missense_Mutation_p.S141L|AC002310.13_ENST00000568114.1_Intron			Q96H86	ZN764_HUMAN	zinc finger protein 764	141					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.S141L(1)		kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7						GGGCCCGGCCGAGGGGGCTTG	0.677													14	22					0	0	1	0	0	A	30567320	G	A	30567320	3	1	81	1	0	0	0	0	1	0	0	0	18188	1059	37	1	808	1	ZNF764	16	30567320	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	31105	30567320	59787433	11570	15186											
ZNF785	146540	broad.mit.edu	37	16	30594701	30594701	+	Missense_Mutation	SNP	G	G	A	rs147472796		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:30594701G>A	ENST00000395216.2	-	3	557	c.398C>T	c.(397-399)gCg>gTg	p.A133V	ZNF785_ENST00000470110.1_Missense_Mutation_p.A118V|AC002310.7_ENST00000492040.1_RNA	NM_152458.6	NP_689671.2	A8K8V0	ZN785_HUMAN	zinc finger protein 785	133					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	9						CACTTCATGCGCCACCTCTTT	0.527													39	58					0	0	1	0	0	A	30594701	G	A	30594701	3	1	81	1	0	0	0	0	1	0	0	0	18206	1087	38	1	823	1	ZNF785	16	30594701	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	27381	30594701	59760052	11571	15187											
PRR14	78994	broad.mit.edu	37	16	30665636	30665636	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:30665636G>T	ENST00000542965.2	+	6	1090	c.634G>T	c.(634-636)Gac>Tac	p.D212Y	PRR14_ENST00000300835.4_Missense_Mutation_p.D212Y			Q9BWN1	PRR14_HUMAN	proline rich 14	212	Pro-rich.									breast(3)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	18			Colorectal(24;0.103)			TCTGCCTGCAGACCCTCTGGA	0.577													64	116					1.20869e-33	1.61659e-33	1	1	0	T	30665636	G	T	30665636	3	4	81	1	0	0	0	0	1	0	0	0	12638	942	33	4	656	4	PRR14	16	30665636	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	70935	30665636	59689117	11572	15188											
PRR14	78994	broad.mit.edu	37	16	30666150	30666150	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:30666150G>A	ENST00000542965.2	+	7	1315	c.859G>A	c.(859-861)Gcc>Acc	p.A287T	PRR14_ENST00000300835.4_Missense_Mutation_p.A287T|PRR14_ENST00000571654.1_3'UTR			Q9BWN1	PRR14_HUMAN	proline rich 14	287	Pro-rich.									breast(3)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	18			Colorectal(24;0.103)			GTTGAAGATCGCCATCTCAGA	0.637													11	12					0	0	1	0	0	A	30666150	G	A	30666150	3	1	81	1	0	0	0	0	1	0	0	0	12638	1087	38	1	885	1	PRR14	16	30666150	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	514	30666150	59688603	11573	15189											
PRR14	78994	broad.mit.edu	37	16	30666273	30666273	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:30666273C>A	ENST00000542965.2	+	7	1438	c.982C>A	c.(982-984)Ctg>Atg	p.L328M	PRR14_ENST00000300835.4_Missense_Mutation_p.L328M|PRR14_ENST00000571654.1_3'UTR			Q9BWN1	PRR14_HUMAN	proline rich 14	328	Pro-rich.									breast(3)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	18			Colorectal(24;0.103)			TAAGCCCTCTCTGGGCCGAAG	0.687													10	32					0.0581538	0.0592525	1	1	0	A	30666273	C	A	30666273	3	1	81	1	0	0	0	0	1	0	0	0	12638	912	32	4	1008	4	PRR14	16	30666273	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	123	30666273	59688480	11574	15190											
SRCAP	10847	broad.mit.edu	37	16	30722093	30722093	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:30722093G>A	ENST00000262518.4	+	9	1538	c.1153G>A	c.(1153-1155)Gct>Act	p.A385T	SRCAP_ENST00000344771.4_Missense_Mutation_p.A385T|SRCAP_ENST00000395059.2_Missense_Mutation_p.A385T	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	385	Glu-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			CCCACCCTCTGCTGTCACACA	0.463													25	27					0	0	1	0	0	A	30722093	G	A	30722093	3	1	81	1	0	0	0	0	1	0	0	0	15191	1319	46	2	1179	2	SRCAP	16	30722093	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	55820	30722093	59632660	11575	15191											
SRCAP	10847	broad.mit.edu	37	16	30735405	30735405	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:30735405G>A	ENST00000262518.4	+	25	5045	c.4660G>A	c.(4660-4662)Gct>Act	p.A1554T	SRCAP_ENST00000344771.4_Missense_Mutation_p.A1396T|SRCAP_ENST00000395059.2_Missense_Mutation_p.A1492T	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	1554	Pro-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			GCCAGCTTCGGCTCTGGCCAG	0.587													19	29					0	0	1	0	0	A	30735405	G	A	30735405	3	1	81	1	0	0	0	0	1	0	0	0	15191	1203	42	2	4750	2	SRCAP	16	30735405	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	13312	30735405	59619348	11576	15192											
C16orf93	90835	broad.mit.edu	37	16	30770336	30770336	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:30770336G>A	ENST00000543610.1	-	8	1775	c.814C>T	c.(814-816)Cca>Tca	p.P272S	C16orf93_ENST00000541260.1_Missense_Mutation_p.P337S|PHKG2_ENST00000563588.1_3'UTR|PHKG2_ENST00000424889.3_Intron	NM_001014979.2	NP_001014979.2	A1A4V9	CP093_HUMAN	chromosome 16 open reading frame 93	272										breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(6)	11						TCCTCACTTGGCTCTGGCTCT	0.517													72	78					0	0	1	0	0	A	30770336	G	A	30770336	3	1	81	1	0	0	0	0	1	0	0	0	1853	1203	42	2	189	2	C16orf93	16	30770336	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	34931	30770336	59584417	11577	15193											
RNF40	9810	broad.mit.edu	37	16	30776312	30776312	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:30776312C>T	ENST00000324685.6	+	6	1138	c.703C>T	c.(703-705)Cgt>Tgt	p.R235C	RNF40_ENST00000402121.3_Intron|RNF40_ENST00000357890.5_Missense_Mutation_p.R235C|RNF40_ENST00000563683.1_Missense_Mutation_p.R235C	NM_001207033.1|NM_014771.3	NP_001193962.1|NP_055586	O75150	BRE1B_HUMAN	ring finger protein 40, E3 ubiquitin protein ligase	235					histone H2B ubiquitination|histone monoubiquitination|ubiquitin-dependent protein catabolic process	nucleus|synaptosome|ubiquitin ligase complex	protein homodimerization activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)	30			Colorectal(24;0.198)			AGAGCTGGGCCGTGAGAACCG	0.647													10	30					0	0	1	0	0	T	30776312	C	T	30776312	3	4	81	1	0	0	0	0	1	0	0	0	13545	652	23	1	721	1	RNF40	16	30776312	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	5976	30776312	59578441	11578	15194											
RNF40	9810	broad.mit.edu	37	16	30780680	30780680	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:30780680G>T	ENST00000324685.6	+	16	2856	c.2421G>T	c.(2419-2421)aaG>aaT	p.K807N	RNF40_ENST00000402121.3_Missense_Mutation_p.K499N|RNF40_ENST00000567365.1_3'UTR|RNF40_ENST00000357890.5_Missense_Mutation_p.K707N|RNF40_ENST00000563683.1_Missense_Mutation_p.K767N	NM_001207033.1|NM_014771.3	NP_001193962.1|NP_055586	O75150	BRE1B_HUMAN	ring finger protein 40, E3 ubiquitin protein ligase	807					histone H2B ubiquitination|histone monoubiquitination|ubiquitin-dependent protein catabolic process	nucleus|synaptosome|ubiquitin ligase complex	protein homodimerization activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)	30			Colorectal(24;0.198)			GGGAGGAGAAGGATGAGTTGG	0.587													8	80					0.0381472	0.0389402	1	1	0	T	30780680	G	T	30780680	3	4	81	1	0	0	0	0	1	0	0	0	13545	991	35	4	2479	4	RNF40	16	30780680	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	4368	30780680	59574073	11579	15195											
ZNF629	23361	broad.mit.edu	37	16	30794000	30794000	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:30794000C>T	ENST00000262525.4	-	3	1856	c.1649G>A	c.(1648-1650)aGc>aAc	p.S550N		NM_001080417.1	NP_001073886.1	Q9UEG4	ZN629_HUMAN	zinc finger protein 629	550					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(3)|urinary_tract(1)	22			Colorectal(24;0.198)			CCCCAGCAGGCTGTCGCCCTG	0.692													4	3					0	0	1	0	0	T	30794000	C	T	30794000	3	4	81	1	0	0	0	0	1	0	0	0	18110	797	28	2	964	2	ZNF629	16	30794000	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	13320	30794000	59560753	11580	15196											
ZNF629	23361	broad.mit.edu	37	16	30794144	30794144	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:30794144A>G	ENST00000262525.4	-	3	1712	c.1505T>C	c.(1504-1506)aTt>aCt	p.I502T		NM_001080417.1	NP_001073886.1	Q9UEG4	ZN629_HUMAN	zinc finger protein 629	502					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(3)|urinary_tract(1)	22			Colorectal(24;0.198)			GACGTGGGTAATAAGGTTGGA	0.637													48	43					0	0	1	0	0	G	30794144	A	G	30794144	3	3	81	1	0	0	0	0	1	0	0	0	18110	101	4	3	1108	3	ZNF629	16	30794144	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	144	30794144	59560609	11581	15197											
CTF1	1489	broad.mit.edu	37	16	30910766	30910766	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:30910766T>G	ENST00000279804.2	+	2	93	c.56T>G	c.(55-57)cTt>cGt	p.L19R	CTF1_ENST00000395019.3_Missense_Mutation_p.L18R	NM_001142544.1|NM_001330.3	NP_001136016.1|NP_001321.1	Q16619	CTF1_HUMAN	cardiotrophin 1	19					cell proliferation|cell-cell signaling|muscle organ development|positive regulation of cell proliferation	extracellular space	cytokine activity|leukemia inhibitory factor receptor binding			large_intestine(1)|urinary_tract(1)	2			Colorectal(24;0.198)			TCAGTCTCACTTCTTCCCCAC	0.562													4	53					0	0	1	0	0	G	30910766	T	G	30910766	3	3	81	1	0	0	0	0	1	0	0	0	4031	1609	56	5	62	5	CTF1	16	30910766	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	116622	30910766	59443987	11582	15198											
FBXL19	54620	broad.mit.edu	37	16	30939842	30939842	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:30939842C>A	ENST00000338343.4	+	6	1069	c.682C>A	c.(682-684)Ctc>Atc	p.L228I	FBXL19_ENST00000562319.1_Missense_Mutation_p.L228I|FBXL19_ENST00000565690.1_Intron|FBXL19_ENST00000380310.2_Missense_Mutation_p.L248I|FBXL19_ENST00000471231.2_5'UTR			Q6PCT2	FXL19_HUMAN	F-box and leucine-rich repeat protein 19	248	Pro-rich.						DNA binding|zinc ion binding			breast(2)|endometrium(3)|lung(5)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16						CGCCTGCCTCCTCCGAGGATC	0.642													4	28					0.150653	0.152522	1	1	0	A	30939842	C	A	30939842	3	1	81	1	0	0	0	0	1	0	0	0	5748	681	24	4	764	4	FBXL19	16	30939842	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	29076	30939842	59414911	11583	15199											
SETD1A	9739	broad.mit.edu	37	16	30976233	30976233	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:30976233G>T	ENST00000262519.8	+	7	1856	c.1170G>T	c.(1168-1170)gaG>gaT	p.E390D		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	390	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck|Set1C/COMPASS complex	histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						CCACACGGGAGGAACCCCCTG	0.592													62	144					2.17656e-39	2.92207e-39	1	1	0	T	30976233	G	T	30976233	3	4	81	1	0	0	0	0	1	0	0	0	14184	991	35	4	1192	4	SETD1A	16	30976233	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	36391	30976233	59378520	11584	15200											
SETD1A	9739	broad.mit.edu	37	16	30977389	30977389	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:30977389G>A	ENST00000262519.8	+	8	2873	c.2187G>A	c.(2185-2187)ccG>ccA	p.P729P		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	729					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck|Set1C/COMPASS complex	histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						ACGGCTTGCCGTATGCTCTAT	0.672													28	42					0	0	1	0	0	A	30977389	G	A	30977389	2	1	81	1	0	0	0	0	0	0	0	1	14184	1132	40	1		1	SETD1A	16	30977389	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1156	30977389	59377364	11585	15201											
STX4	6810	broad.mit.edu	37	16	31049324	31049324	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:31049324C>T	ENST00000394998.1	+	7	793	c.450C>T	c.(448-450)aaC>aaT	p.N150N	STX4_ENST00000493902.1_3'UTR|STX4_ENST00000313843.3_Silent_p.N152N	NM_001272096.1	NP_001259025.1	Q12846	STX4_HUMAN	syntaxin 4	152					intracellular protein transport|platelet activation|post-Golgi vesicle-mediated transport	basolateral plasma membrane|cell surface|cytosol|integral to membrane|plasma membrane enriched fraction|specific granule|vacuole	SNAP receptor activity			NS(2)|breast(1)|large_intestine(3)|lung(3)	9						GGGAGAAGAACGTGGAGCGGA	0.547													13	36					0	0	1	0	0	T	31049324	C	T	31049324	2	4	81	1	0	0	0	0	0	0	0	1	15403	535	19	1		1	STX4	16	31049324	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	71935	31049324	59305429	11586	15202											
ZNF668	79759	broad.mit.edu	37	16	31072886	31072886	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:31072886G>T	ENST00000538906.1	-	3	2147	c.1363C>A	c.(1363-1365)Cct>Act	p.P455T	ZNF668_ENST00000394983.2_Missense_Mutation_p.P455T|ZNF668_ENST00000300849.4_Missense_Mutation_p.P455T|ZNF668_ENST00000535577.1_Missense_Mutation_p.P455T|ZNF668_ENST00000539836.3_Missense_Mutation_p.P478T|ZNF668_ENST00000426488.2_Missense_Mutation_p.P478T|ZNF668_ENST00000417110.2_Missense_Mutation_p.G25V	NM_001172668.1	NP_001166139	Q96K58	ZN668_HUMAN	zinc finger protein 668	455					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						CCTGCTGGAGGGTCCCCCAGC	0.692													9	62					0.000442599	0.000477972	1	1	0	T	31072886	G	T	31072886	3	4	81	1	0	0	0	0	1	0	0	0	18132	1232	43	5	500	5	ZNF668	16	31072886	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	23562	31072886	59281867	11587	15203											
ZNF668	79759	broad.mit.edu	37	16	31075731	31075731	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:31075731C>T	ENST00000538906.1	-	2	834	c.50G>A	c.(49-51)cGc>cAc	p.R17H	ZNF668_ENST00000394983.2_Missense_Mutation_p.R17H|ZNF668_ENST00000300849.4_Missense_Mutation_p.R17H|ZNF668_ENST00000535577.1_Missense_Mutation_p.R17H|ZNF668_ENST00000539836.3_Missense_Mutation_p.R40H|ZNF668_ENST00000426488.2_Missense_Mutation_p.R40H	NM_001172668.1	NP_001166139	Q96K58	ZN668_HUMAN	zinc finger protein 668	17					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						GCGGCCCGAGCGCTTGTAGCC	0.632													27	29					0	0	1	0	0	T	31075731	C	T	31075731	3	4	81	1	0	0	0	0	1	0	0	0	18132	768	27	1	1817	1	ZNF668	16	31075731	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2845	31075731	59279022	11588	15204											
ZNF668	79759	broad.mit.edu	37	16	31075764	31075764	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:31075764G>A	ENST00000538906.1	-	2	801	c.17C>T	c.(16-18)gCa>gTa	p.A6V	ZNF668_ENST00000394983.2_Missense_Mutation_p.A6V|ZNF668_ENST00000300849.4_Missense_Mutation_p.A6V|ZNF668_ENST00000535577.1_Missense_Mutation_p.A6V|ZNF668_ENST00000539836.3_Missense_Mutation_p.A29V|ZNF668_ENST00000426488.2_Missense_Mutation_p.A29V	NM_001172668.1	NP_001166139	Q96K58	ZN668_HUMAN	zinc finger protein 668	6					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						CCGGGCCTCTGCAGCCTCCAC	0.612													24	24					0	0	1	0	0	A	31075764	G	A	31075764	3	1	81	1	0	0	0	0	1	0	0	0	18132	1319	46	2	1850	2	ZNF668	16	31075764	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	33	31075764	59278989	11589	15205											
ZNF646	9726	broad.mit.edu	37	16	31089168	31089168	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:31089168G>A	ENST00000394979.2	+	1	1946	c.1523G>A	c.(1522-1524)cGc>cAc	p.R508H	ZNF646_ENST00000300850.5_Missense_Mutation_p.R508H			O15015	ZN646_HUMAN	zinc finger protein 646	508					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						ATGGCCCTGCGCAACCACGTG	0.642													5	13					0	0	1	0	0	A	31089168	G	A	31089168	3	1	81	1	0	0	0	0	1	0	0	0	18119	1087	38	1	1525	1	ZNF646	16	31089168	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	13404	31089168	59265585	11590	15206											
ZNF646	9726	broad.mit.edu	37	16	31089462	31089462	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:31089462G>A	ENST00000394979.2	+	1	2240	c.1817G>A	c.(1816-1818)aGa>aAa	p.R606K	ZNF646_ENST00000300850.5_Missense_Mutation_p.R606K			O15015	ZN646_HUMAN	zinc finger protein 646	606					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						GAAAATAGCAGAACAGAGACC	0.542													16	30					0	0	1	0	0	A	31089462	G	A	31089462	3	1	81	1	0	0	0	0	1	0	0	0	18119	942	33	2	1819	2	ZNF646	16	31089462	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	294	31089462	59265291	11591	15207											
ZNF646	9726	broad.mit.edu	37	16	31090101	31090101	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:31090101C>T	ENST00000394979.2	+	1	2879	c.2456C>T	c.(2455-2457)gCc>gTc	p.A819V	ZNF646_ENST00000300850.5_Missense_Mutation_p.A819V			O15015	ZN646_HUMAN	zinc finger protein 646	819					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						CAGGCTGGGGCCGCTCACACA	0.617													19	46					0	0	1	0	0	T	31090101	C	T	31090101	3	4	81	1	0	0	0	0	1	0	0	0	18119	739	26	2	2458	2	ZNF646	16	31090101	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	639	31090101	59264652	11592	15208											
BCKDK	10295	broad.mit.edu	37	16	31122664	31122664	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:31122664G>T	ENST00000394951.1	+	11	1512	c.889G>T	c.(889-891)Gat>Tat	p.D297Y	BCKDK_ENST00000219794.6_Missense_Mutation_p.D297Y|BCKDK_ENST00000394950.3_Missense_Mutation_p.D297Y|BCKDK_ENST00000287507.3_Intron			O14874	BCKD_HUMAN	branched chain ketoacid dehydrogenase kinase	297	Histidine kinase.				branched chain family amino acid catabolic process|peptidyl-histidine phosphorylation	mitochondrial alpha-ketoglutarate dehydrogenase complex	[3-methyl-2-oxobutanoate dehydrogenase (acetyl-transferring)] kinase activity|ATP binding|protein binding|protein serine/threonine kinase activity|two-component sensor activity			breast(1)|stomach(1)	2						CAATGTCCCAGATGTGGTCAT	0.547													15	41					8.34094e-07	9.62661e-07	1	1	0	T	31122664	G	T	31122664	3	4	81	1	0	0	0	0	1	0	0	0	1359	942	33	4	923	4	BCKDK	16	31122664	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	32563	31122664	59232089	11593	15209											
BCKDK	10295	broad.mit.edu	37	16	31123215	31123215	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:31123215G>A	ENST00000394951.1	+	12	1584	c.961G>A	c.(961-963)Gct>Act	p.A321T	BCKDK_ENST00000219794.6_Missense_Mutation_p.A321T|BCKDK_ENST00000394950.3_Missense_Mutation_p.A321T|BCKDK_ENST00000287507.3_Missense_Mutation_p.A291T			O14874	BCKD_HUMAN	branched chain ketoacid dehydrogenase kinase	321	Histidine kinase.				branched chain family amino acid catabolic process|peptidyl-histidine phosphorylation	mitochondrial alpha-ketoglutarate dehydrogenase complex	[3-methyl-2-oxobutanoate dehydrogenase (acetyl-transferring)] kinase activity|ATP binding|protein binding|protein serine/threonine kinase activity|two-component sensor activity			breast(1)|stomach(1)	2						TGGAGGAATCGCTCACAAAGA	0.567													30	44					0	0	1	0	0	A	31123215	G	A	31123215	3	1	81	1	0	0	0	0	1	0	0	0	1359	1087	38	1	999	1	BCKDK	16	31123215	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	551	31123215	59231538	11594	15210											
FUS	2521	broad.mit.edu	37	16	31199645	31199645	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:31199645G>T	ENST00000254108.7	+	8	904		c.e8-1		FUS_ENST00000474990.1_Splice_Site|FUS_ENST00000568685.1_Splice_Site|FUS_ENST00000380244.3_Splice_Site	NM_001170634.1|NM_001170937.1|NM_004960.3	NP_001164105.1|NP_001164408.1|NP_004951.1	P35637	FUS_HUMAN	fused in sarcoma						cell death|nuclear mRNA splicing, via spliceosome	nucleoplasm	DNA binding|nucleotide binding|protein binding|RNA binding|zinc ion binding		FUS/ERG(167)|FUS/DDIT3(631)|FUS/FEV(2)|FUS/ATF1(4)|FUS/CREB3L1(6)|FUS/CREB3L2(158)	breast(3)|endometrium(5)|kidney(3)|large_intestine(1)|lung(5)|prostate(3)|skin(1)|urinary_tract(1)	22		Renal(780;0.000219)|Breast(268;0.00957)|Hepatocellular(780;0.121)		GBM - Glioblastoma multiforme(240;2.31e-05)|Kidney(780;0.000209)		TGTCACTAAAGGCCCTCGGGA	0.418			T	"DDIT3, ERG, FEV, ATF1, CREB3L2, CREB3L1"	"liposarcoma, AML, Ewing sarcoma, angiomatoid fibrous histiocytoma, fibromyxoid sarcoma"								24	38					1.55469e-16	1.99639e-16	1	1	0	T	31199645	G	T	31199645	5	4	81	1	0	0	0	0	0	0	1	0	6135	1014	35	4	829	4	FUS	16	31199645	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	76430	31199645	59155108	11595	15211											
PYCARD	29108	broad.mit.edu	37	16	31213042	31213042	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:31213042G>A	ENST00000247470.9	-	3	753	c.452C>T	c.(451-453)gCc>gTc	p.A151V	PYCARD_ENST00000350605.4_Missense_Mutation_p.A132V	NM_013258.4	NP_037390.2	Q9ULZ3	ASC_HUMAN	PYD and CARD domain containing	151	CARD.				induction of apoptosis|positive regulation of interleukin-1 beta secretion|positive regulation of NF-kappaB transcription factor activity|proteolysis|tumor necrosis factor-mediated signaling pathway	IkappaB kinase complex	caspase activator activity|cysteine-type endopeptidase activity|protein homodimerization activity|Pyrin domain binding			NS(1)|kidney(1)	2						GGTGGGCTCGGCCCGCACTGC	0.607													36	42					0	0	1	0	0	A	31213042	G	A	31213042	3	1	81	1	0	0	0	0	1	0	0	0	12906	1203	42	2	139	2	PYCARD	16	31213042	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	13397	31213042	59141711	11596	15212											
PYCARD	29108	broad.mit.edu	37	16	31213521	31213521	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:31213521G>A	ENST00000247470.9	-	2	579	c.278C>T	c.(277-279)tCt>tTt	p.S93F	C16orf98_ENST00000561916.2_Intron|PYCARD_ENST00000350605.4_Intron	NM_013258.4	NP_037390.2	Q9ULZ3	ASC_HUMAN	PYD and CARD domain containing	93					induction of apoptosis|positive regulation of interleukin-1 beta secretion|positive regulation of NF-kappaB transcription factor activity|proteolysis|tumor necrosis factor-mediated signaling pathway	IkappaB kinase complex	caspase activator activity|cysteine-type endopeptidase activity|protein homodimerization activity|Pyrin domain binding			NS(1)|kidney(1)	2						CGCGGCTCCAGAGCCTGGAAG	0.697													9	13					0	0	1	0	0	A	31213521	G	A	31213521	3	1	81	1	0	0	0	0	1	0	0	0	12906	942	33	2	317	2	PYCARD	16	31213521	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	479	31213521	59141232	11597	15213											
ITGAM	3684	broad.mit.edu	37	16	31332801	31332801	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:31332801A>G	ENST00000544665.3	+	16	1929	c.1858A>G	c.(1858-1860)Aga>Gga	p.R620G	ITGAM_ENST00000287497.8_Missense_Mutation_p.R619G	NM_000632.3|NM_001145808.1	NP_000623.2|NP_001139280.1	P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)	619					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						GCCAGTACTGAGAGTCAAGGC	0.493													18	272					0	0	1	0	0	G	31332801	A	G	31332801	3	3	81	1	0	0	0	0	1	0	0	0	7931	296	11	3	1920	3	ITGAM	16	31332801	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	119280	31332801	59021952	11598	15214											
ITGAX	3687	broad.mit.edu	37	16	31367254	31367254	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:31367254G>A	ENST00000268296.4	+	2	199	c.78G>A	c.(76-78)gaG>gaA	p.E26E	ITGAX_ENST00000562522.1_Silent_p.E26E|ITGAX_ENST00000562918.1_3'UTR	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	26					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						ACACAGAGGAGCTGACAGCCT	0.577													98	134					0	0	1	0	0	A	31367254	G	A	31367254	2	1	81	1	0	0	0	0	0	0	0	1	7933	962	34	2		2	ITGAX	16	31367254	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	34453	31367254	58987499	11599	15215											
ARMC5	79798	broad.mit.edu	37	16	31473784	31473784	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:31473784G>A	ENST00000457010.2	+	3	1617	c.916G>A	c.(916-918)Gcc>Acc	p.A306T	ARMC5_ENST00000538189.1_Missense_Mutation_p.A338T|ARMC5_ENST00000412665.2_Intron|ARMC5_ENST00000268314.4_Missense_Mutation_p.A306T|ARMC5_ENST00000408912.3_Missense_Mutation_p.A401T|ARMC5_ENST00000563544.1_Missense_Mutation_p.A306T	NM_024742.2	NP_079018.1	Q96C12	ARMC5_HUMAN	armadillo repeat containing 5	306							binding			central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						TCTGATCCTCGCCAACCTGTG	0.642													22	15					0	0	1	0	0	A	31473784	G	A	31473784	3	1	81	1	0	0	0	0	1	0	0	0	953	1087	38	1	926	1	ARMC5	16	31473784	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	106530	31473784	58880969	11600	15216											
TGFB1I1	7041	broad.mit.edu	37	16	31487396	31487396	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:31487396G>A	ENST00000394863.3	+	8	908	c.778G>A	c.(778-780)Gcc>Acc	p.A260T	TGFB1I1_ENST00000394858.2_Missense_Mutation_p.A243T|TGFB1I1_ENST00000361773.3_Missense_Mutation_p.A243T|TGFB1I1_ENST00000567607.1_Missense_Mutation_p.A243T	NM_001042454.2	NP_001035919.1	O43294	TGFI1_HUMAN	transforming growth factor beta 1 induced transcript 1	260	LIM zinc-binding 1.				androgen receptor signaling pathway|cell adhesion|negative regulation of cell proliferation|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor beta receptor signaling pathway|transcription from RNA polymerase II promoter|ubiquitin-dependent SMAD protein catabolic process|Wnt receptor signaling pathway	cytoplasm|cytoskeleton|focal adhesion|nuclear matrix	androgen receptor binding|I-SMAD binding|Roundabout binding|transcription coactivator activity|zinc ion binding			lung(8)|upper_aerodigestive_tract(1)	9						CTGTTCCACCGCCCTGGGAGG	0.657													32	27					0	0	1	0	0	A	31487396	G	A	31487396	3	1	81	1	0	0	0	0	1	0	0	0	15877	1087	38	1	808	1	TGFB1I1	16	31487396	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	13612	31487396	58867357	11601	15217											
AHSP	51327	broad.mit.edu	37	16	31539887	31539887	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:31539887G>A	ENST00000302312.4	+	3	287	c.184G>A	c.(184-186)Gag>Aag	p.E62K	AHSP_ENST00000569954.1_3'UTR	NM_016633.2	NP_057717.1	Q9NZD4	AHSP_HUMAN	alpha hemoglobin stabilizing protein	62					hemoglobin metabolic process|hemopoiesis|protein folding|protein stabilization	hemoglobin complex	hemoglobin binding|unfolded protein binding			lung(2)	2						GGAGCCCCAAGAGCGAGACAA	0.542													21	31					0	0	1	0	0	A	31539887	G	A	31539887	3	1	81	1	0	0	0	0	1	0	0	0	418	943	33	2	190	2	AHSP	16	31539887	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	52491	31539887	58814866	11602	15218											
MYLK3	91807	broad.mit.edu	37	16	46744668	46744668	+	Silent	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:46744668T>G	ENST00000394809.4	-	11	2263	c.2148A>C	c.(2146-2148)acA>acC	p.T716T	MYLK3_ENST00000536476.1_Silent_p.T375T|MYLK3_ENST00000562104.1_5'UTR	NM_182493.2	NP_872299.2	Q32MK0	MYLK3_HUMAN	myosin light chain kinase 3	716	Protein kinase.				cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis	cytosol	ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3)	37		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				TCTCTGCATCTGTTTCCCCTA	0.478													44	115					0	0	1	0	0	G	46744668	T	G	46744668	2	3	81	1	0	0	0	0	0	0	0	1	10106	1567	55	5		5	MYLK3	16	46744668	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	15204781	46744668	43610085	11603	15219											
MYLK3	91807	broad.mit.edu	37	16	46771675	46771675	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:46771675C>A	ENST00000394809.4	-	3	1064	c.949G>T	c.(949-951)Ggg>Tgg	p.G317W	MYLK3_ENST00000536476.1_Intron	NM_182493.2	NP_872299.2	Q32MK0	MYLK3_HUMAN	myosin light chain kinase 3	317					cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis	cytosol	ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3)	37		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				GCTGGCAGCCCTGGAGGCCCT	0.657													7	61					0.0381472	0.0389402	1	1	0	A	46771675	C	A	46771675	3	1	81	1	0	0	0	0	1	0	0	0	10106	681	24	4	1554	4	MYLK3	16	46771675	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	27007	46771675	43583078	11604	15220											
MYLK3	91807	broad.mit.edu	37	16	46771765	46771765	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:46771765C>A	ENST00000394809.4	-	3	974	c.859G>T	c.(859-861)Gga>Tga	p.G287*	MYLK3_ENST00000536476.1_Intron	NM_182493.2	NP_872299.2	Q32MK0	MYLK3_HUMAN	myosin light chain kinase 3	287					cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis	cytosol	ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3)	37		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				GACGATGCTCCTTGTCCTGCA	0.662													12	89					2.80697e-09	3.37799e-09	1	1	0	A	46771765	C	A	46771765	4	1	81	1	0	0	0	0	0	1	0	0	10106	690	24	4	1644	4	MYLK3	16	46771765	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	90	46771765	43582988	11605	15221											
C16orf87	388272	broad.mit.edu	37	16	46836914	46836914	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:46836914C>T	ENST00000394806.2	-	3	244	c.232G>A	c.(232-234)Gcc>Acc	p.A78T	C16orf87_ENST00000564250.1_Intron|C16orf87_ENST00000285697.4_Missense_Mutation_p.A139T			Q6PH81	CP087_HUMAN	chromosome 16 open reading frame 87	139										large_intestine(4)|urinary_tract(1)	5						TCTGCCAAGGCGACTGAAAAC	0.328													22	28					0	0	1	0	0	T	46836914	C	T	46836914	3	4	81	1	0	0	0	0	1	0	0	0	1847	768	27	1	53	1	C16orf87	16	46836914	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	65149	46836914	43517839	11606	15222											
ITFG1	81533	broad.mit.edu	37	16	47271908	47271908	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:47271908G>T	ENST00000320640.6	-	13	1570	c.1342C>A	c.(1342-1344)Ctg>Atg	p.L448M	ITFG1_ENST00000568047.1_5'UTR|ITFG1_ENST00000544001.2_Missense_Mutation_p.L335M	NM_030790.3	NP_110417.2	Q8TB96	TIP_HUMAN	integrin alpha FG-GAP repeat containing 1	448						extracellular region|integral to membrane				breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	19		all_cancers(37;0.0613)|all_lung(18;0.0543)|Lung NSC(13;0.227)				TTAGAACACAGACCACTAAGA	0.274													4	7					0.000602214	0.000646338	1	1	0	T	47271908	G	T	47271908	3	4	81	1	0	0	0	0	1	0	0	0	7913	933	33	4	520	4	ITFG1	16	47271908	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	434994	47271908	43082845	11607	15223											
ABCC12	94160	broad.mit.edu	37	16	48120658	48120658	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:48120658T>C	ENST00000311303.3	-	26	4053	c.3708A>G	c.(3706-3708)agA>agG	p.R1236R	ABCC12_ENST00000448542.1_3'UTR|ABCC12_ENST00000416054.1_3'UTR	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	1236	ABC transporter 2.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				CTACTGTGTCTCTCATGAATG	0.507													14	121					0	0	1	0	0	C	48120658	T	C	48120658	2	2	81	1	0	0	0	0	0	0	0	1	52	1548	54	3		3	ABCC12	16	48120658	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	848750	48120658	42234095	11608	15224											
ABCC12	94160	broad.mit.edu	37	16	48120675	48120675	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:48120675C>A	ENST00000311303.3	-	26	4036	c.3691G>T	c.(3691-3693)Gag>Tag	p.E1231*	ABCC12_ENST00000448542.1_3'UTR|ABCC12_ENST00000416054.1_3'UTR	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	1231	ABC transporter 2.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				AATGTTCTCTCCAGAACCTGC	0.498													46	99					1.30916e-28	1.74171e-28	1	1	0	A	48120675	C	A	48120675	4	1	81	1	0	0	0	0	0	1	0	0	52	864	30	5	404	5	ABCC12	16	48120675	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	17	48120675	42234078	11609	15225											
ABCC12	94160	broad.mit.edu	37	16	48130758	48130758	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:48130758G>A	ENST00000311303.3	-	22	3439	c.3094C>T	c.(3094-3096)Ctc>Ttc	p.L1032F	ABCC12_ENST00000448542.1_3'UTR|ABCC12_ENST00000416054.1_3'UTR	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	1032	ABC transmembrane type-1 2.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				ATGTTCATGAGGACATCCATT	0.458													42	72					0	0	1	0	0	A	48130758	G	A	48130758	3	1	81	1	0	0	0	0	1	0	0	0	52	1000	35	2	1017	2	ABCC12	16	48130758	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	10083	48130758	42223995	11610	15226											
ABCC12	94160	broad.mit.edu	37	16	48141301	48141301	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:48141301G>A	ENST00000311303.3	-	18	2752	c.2407C>T	c.(2407-2409)Ctc>Ttc	p.L803F	ABCC12_ENST00000448542.1_Missense_Mutation_p.L800F|ABCC12_ENST00000416054.1_3'UTR	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	803	ABC transmembrane type-1 2.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				ATCATCAGGAGGAAGAGGAAC	0.582													41	73					0	0	1	0	0	A	48141301	G	A	48141301	3	1	81	1	0	0	0	0	1	0	0	0	52	1000	35	2	1720	2	ABCC12	16	48141301	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	10543	48141301	42213452	11611	15227											
ABCC11	85320	broad.mit.edu	37	16	48218469	48218469	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:48218469G>A	ENST00000394747.1	-	22	3489	c.3140C>T	c.(3139-3141)gCa>gTa	p.A1047V	ABCC11_ENST00000356608.2_Missense_Mutation_p.A1047V|ABCC11_ENST00000353782.5_Missense_Mutation_p.A1047V|ABCC11_ENST00000394748.1_Missense_Mutation_p.A1047V|ABCC11_ENST00000565329.1_5'UTR	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	1047	ABC transmembrane type-1 2.					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)				CAGCCTCAATGCCATCCATCG	0.483													6	89					0	0	1	0	0	A	48218469	G	A	48218469	3	1	81	1	0	0	0	0	1	0	0	0	51	1319	46	2	1040	2	ABCC11	16	48218469	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	77168	48218469	42136284	11612	15228											
ABCC11	85320	broad.mit.edu	37	16	48258282	48258282	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:48258282G>A	ENST00000394747.1	-	4	803	c.454C>T	c.(454-456)Ctt>Ttt	p.L152F	ABCC11_ENST00000356608.2_Missense_Mutation_p.L152F|ABCC11_ENST00000353782.5_Missense_Mutation_p.L152F|ABCC11_ENST00000537808.1_Missense_Mutation_p.L152F|ABCC11_ENST00000394748.1_Missense_Mutation_p.L152F	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	152						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)				ATCACCAGAAGCACTGAAGCT	0.488													16	51					0	0	1	0	0	A	48258282	G	A	48258282	3	1	81	1	0	0	0	0	1	0	0	0	51	971	34	2	3798	2	ABCC11	16	48258282	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	39813	48258282	42096471	11613	15229											
SIAH1	6477	broad.mit.edu	37	16	48396193	48396193	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:48396193T>C	ENST00000380006.2	-	1	1600	c.147A>G	c.(145-147)ttA>ttG	p.L49L	SIAH1_ENST00000394725.2_Silent_p.L49L|SIAH1_ENST00000356721.3_Silent_p.L80L			Q8IUQ4	SIAH1_HUMAN	siah E3 ubiquitin protein ligase 1	49					axon guidance|cell cycle|neuron apoptosis|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|spermatogenesis	beta-catenin destruction complex|cytosol|nucleus	protein C-terminus binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|stomach(1)	7		all_cancers(37;0.157)|all_lung(18;0.11)|Breast(268;0.238)				GAATGGGCGGTAACACATAGT	0.522													6	41					0	0	1	0	0	C	48396193	T	C	48396193	2	2	81	1	0	0	0	0	0	0	0	1	14354	1635	57	3		3	SIAH1	16	48396193	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	137911	48396193	41958560	11614	15230											
N4BP1	9683	broad.mit.edu	37	16	48594665	48594665	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:48594665G>A	ENST00000262384.3	-	2	2125	c.1889C>T	c.(1888-1890)aCc>aTc	p.T630I	RP11-44I10.3_ENST00000563994.1_RNA	NM_153029.3	NP_694574.3	O75113	N4BP1_HUMAN	NEDD4 binding protein 1	630					negative regulation of proteasomal ubiquitin-dependent protein catabolic process|negative regulation of protein ubiquitination	nucleolus|PML body				breast(3)|kidney(2)|lung(11)|urinary_tract(1)	17		all_cancers(37;0.179)|all_lung(18;0.11)				ATGGACTTACGTAATTGCAAC	0.343													49	87					0	0	1	0	0	A	48594665	G	A	48594665	5	1	81	1	0	0	0	0	0	0	1	0	10157	1159	40	1	825	1	N4BP1	16	48594665	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	198472	48594665	41760088	11615	15231											
N4BP1	9683	broad.mit.edu	37	16	48596022	48596022	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:48596022A>G	ENST00000262384.3	-	2	768	c.532T>C	c.(532-534)Ttg>Ctg	p.L178L	RP11-44I10.3_ENST00000563994.1_RNA	NM_153029.3	NP_694574.3	O75113	N4BP1_HUMAN	NEDD4 binding protein 1	178					negative regulation of proteasomal ubiquitin-dependent protein catabolic process|negative regulation of protein ubiquitination	nucleolus|PML body				breast(3)|kidney(2)|lung(11)|urinary_tract(1)	17		all_cancers(37;0.179)|all_lung(18;0.11)				GAAGTGGGCAAAATCAACAAA	0.383													17	40					0	0	1	0	0	G	48596022	A	G	48596022	2	3	81	1	0	0	0	0	0	0	0	1	10157	11	1	3		3	N4BP1	16	48596022	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	1357	48596022	41758731	11616	15232											
N4BP1	9683	broad.mit.edu	37	16	48596356	48596356	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:48596356C>A	ENST00000262384.3	-	2	435		c.e2-1		RP11-44I10.3_ENST00000563994.1_RNA	NM_153029.3	NP_694574.3	O75113	N4BP1_HUMAN	NEDD4 binding protein 1						negative regulation of proteasomal ubiquitin-dependent protein catabolic process|negative regulation of protein ubiquitination	nucleolus|PML body				breast(3)|kidney(2)|lung(11)|urinary_tract(1)	17		all_cancers(37;0.179)|all_lung(18;0.11)				TAATATATTCCTGTAAAGAGA	0.338													5	15					1.23904e-05	1.39156e-05	1	1	0	A	48596356	C	A	48596356	5	1	81	1	0	0	0	0	0	0	1	0	10157	695	24	4	2516	4	N4BP1	16	48596356	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	334	48596356	41758397	11617	15233											
ZNF423	23090	broad.mit.edu	37	16	49559304	49559304	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:49559304C>T	ENST00000561648.1	-	6	3732	c.3679G>A	c.(3679-3681)Ggc>Agc	p.G1227S	ZNF423_ENST00000535559.1_Missense_Mutation_p.G1110S|ZNF423_ENST00000262383.2_Missense_Mutation_p.G1227S|ZNF423_ENST00000562520.1_Missense_Mutation_p.G1167S|ZNF423_ENST00000567169.1_Missense_Mutation_p.G1110S|ZNF423_ENST00000562871.1_Missense_Mutation_p.G1167S|ZNF423_ENST00000563137.2_Missense_Mutation_p.G1167S	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	1227					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				TTGAAGGTGCCGCCCATGCCC	0.577													11	25					0	0	1	0	0	T	49559304	C	T	49559304	3	4	81	1	0	0	0	0	1	0	0	0	17955	652	23	1	187	1	ZNF423	16	49559304	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	962948	49559304	40795449	11618	15234											
HEATR3	55027	broad.mit.edu	37	16	50112928	50112928	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:50112928C>T	ENST00000299192.7	+	7	1231	c.1040C>T	c.(1039-1041)cCg>cTg	p.P347L	HEATR3_ENST00000285767.4_Splice_Site_p.P261L	NM_182922.2	NP_891552.1	Q7Z4Q2	HEAT3_HUMAN	HEAT repeat containing 3	347							binding			cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						GATTTACTTCCGGTAAGTCAG	0.343													24	57					0	0	1	0	0	T	50112928	C	T	50112928	5	4	81	1	0	0	0	0	0	0	1	0	7070	666	23	1	1066	1	HEATR3	16	50112928	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	553624	50112928	40241825	11619	15235											
PAPD5	64282	broad.mit.edu	37	16	50245298	50245298	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:50245298C>T	ENST00000357464.3	+	3	421	c.421C>T	c.(421-423)Cgg>Tgg	p.R141W	PAPD5_ENST00000561678.1_Missense_Mutation_p.R153W|PAPD5_ENST00000436909.3_Missense_Mutation_p.R220W			Q8NDF8	PAPD5_HUMAN	PAP associated domain containing 5	141					cell division|DNA replication|histone mRNA catabolic process|mitosis	cytoplasm|nucleus	DNA binding|DNA-directed DNA polymerase activity|metal ion binding			endometrium(1)|kidney(1)|lung(2)	4		all_cancers(37;0.0452)		BRCA - Breast invasive adenocarcinoma(181;0.0843)|GBM - Glioblastoma multiforme(240;0.231)		GGAGAAGATGCGGATGGAGGT	0.458													13	21					0	0	1	0	0	T	50245298	C	T	50245298	3	4	81	1	0	0	0	0	1	0	0	0	11472	759	27	1	668	1	PAPD5	16	50245298	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	132370	50245298	40109455	11620	15236											
PAPD5	64282	broad.mit.edu	37	16	50250053	50250053	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:50250053C>T	ENST00000357464.3	+	5	595	c.595C>T	c.(595-597)Cgg>Tgg	p.R199W	PAPD5_ENST00000561678.1_Missense_Mutation_p.R211W|PAPD5_ENST00000436909.3_Missense_Mutation_p.R278W|PAPD5_ENST00000573002.1_3'UTR			Q8NDF8	PAPD5_HUMAN	PAP associated domain containing 5	199					cell division|DNA replication|histone mRNA catabolic process|mitosis	cytoplasm|nucleus	DNA binding|DNA-directed DNA polymerase activity|metal ion binding			endometrium(1)|kidney(1)|lung(2)	4		all_cancers(37;0.0452)		BRCA - Breast invasive adenocarcinoma(181;0.0843)|GBM - Glioblastoma multiforme(240;0.231)		AGAAGCTCTTCGGAAACACAA	0.423													31	62					0	0	1	0	0	T	50250053	C	T	50250053	3	4	81	1	0	0	0	0	1	0	0	0	11472	875	31	1	850	1	PAPD5	16	50250053	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	4755	50250053	40104700	11621	15237											
PAPD5	64282	broad.mit.edu	37	16	50257163	50257163	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:50257163C>T	ENST00000357464.3	+	8	964	c.964C>T	c.(964-966)Cga>Tga	p.R322*	PAPD5_ENST00000561678.1_Nonsense_Mutation_p.R291*|PAPD5_ENST00000436909.3_Nonsense_Mutation_p.R401*|PAPD5_ENST00000573002.1_3'UTR			Q8NDF8	PAPD5_HUMAN	PAP associated domain containing 5	322	PAP-associated.				cell division|DNA replication|histone mRNA catabolic process|mitosis	cytoplasm|nucleus	DNA binding|DNA-directed DNA polymerase activity|metal ion binding			endometrium(1)|kidney(1)|lung(2)	4		all_cancers(37;0.0452)		BRCA - Breast invasive adenocarcinoma(181;0.0843)|GBM - Glioblastoma multiforme(240;0.231)		ATTATATGGACGACACTTCAA	0.373													18	29					0	0	1	0	0	T	50257163	C	T	50257163	4	4	81	1	0	0	0	0	0	1	0	0	11472	528	19	1	1231	1	PAPD5	16	50257163	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	7110	50257163	40097590	11622	15238											
SNX20	124460	broad.mit.edu	37	16	50707891	50707891	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:50707891G>A	ENST00000330943.4	-	4	548	c.377C>T	c.(376-378)gCg>gTg	p.A126V	SNX20_ENST00000300590.3_Intron|SNX20_ENST00000423026.2_Intron	NM_182854.2	NP_878274.1	Q7Z614	SNX20_HUMAN	sorting nexin 20	126	PX.				cell communication|protein transport	endosome membrane|nucleus|plasma membrane	phosphatidylinositol binding|protein binding			kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|skin(2)|stomach(1)	15						CTTCAGCAGCGCTTTCTGGAG	0.562													5	57					0	0	1	0	0	A	50707891	G	A	50707891	3	1	81	1	0	0	0	0	1	0	0	0	14946	1087	38	1	720	1	SNX20	16	50707891	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	450728	50707891	39646862	11623	15239											
NOD2	64127	broad.mit.edu	37	16	50750562	50750562	+	Missense_Mutation	SNP	G	G	A	rs104895445		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:50750562G>A	ENST00000300589.2	+	5	2632	c.2527G>A	c.(2527-2529)Gag>Aag	p.E843K		NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain containing 2	843			E -> K (associated with Crohn disease).		activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding			cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				TCTTCACTGCGAGCAATTGCA	0.493													9	18					0	0	1	0	0	A	50750562	G	A	50750562	3	1	81	1	0	0	0	0	1	0	0	0	10564	1059	37	1	2545	1	NOD2	16	50750562	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	42671	50750562	39604191	11624	15240											
NOD2	64127	broad.mit.edu	37	16	50750880	50750880	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:50750880A>G	ENST00000300589.2	+	6	2730	c.2625A>G	c.(2623-2625)gcA>gcG	p.A875A		NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain containing 2	875					activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding			cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				ACTTCTTGGCATTGAGGTGAG	0.502													10	106					0	0	1	0	0	G	50750880	A	G	50750880	2	3	81	1	0	0	0	0	0	0	0	1	10564	204	8	3		3	NOD2	16	50750880	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	318	50750880	39603873	11625	15241											
CYLD	1540	broad.mit.edu	37	16	50785659	50785659	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:50785659G>A	ENST00000540145.1	+	5	1064	c.649G>A	c.(649-651)Gca>Aca	p.A217T	CYLD_ENST00000564326.1_Missense_Mutation_p.A217T|CYLD_ENST00000398568.2_Missense_Mutation_p.A217T|CYLD_ENST00000569418.1_Missense_Mutation_p.A217T|CYLD_ENST00000311559.9_Missense_Mutation_p.A217T|CYLD_ENST00000427738.3_Missense_Mutation_p.A217T|CYLD_ENST00000566206.1_Missense_Mutation_p.A217T|CYLD_ENST00000568704.2_Missense_Mutation_p.A217T			Q9NQC7	CYLD_HUMAN	cylindromatosis (turban tumor syndrome)	217	Interaction with TRIP.				cell cycle|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K63-linked deubiquitination|regulation of microtubule cytoskeleton organization|regulation of mitotic cell cycle|translation|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	cytosol|extrinsic to internal side of plasma membrane|microtubule|perinuclear region of cytoplasm|ribosome	proline-rich region binding|protein kinase binding|structural constituent of ribosome|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(9)|lung(17)|pancreas(1)|skin(22)|upper_aerodigestive_tract(1)	62		all_cancers(37;0.0156)				AAGTGATTACGCAGGTCCTGG	0.418			"Mis, N, F, S"		cylindroma	cylindroma			Multiple Trichoepithelioma, Familial;Familial Cylindromatosis				34	61					0	0	1	0	0	A	50785659	G	A	50785659	3	1	81	1	0	0	0	0	1	0	0	0	4166	1087	38	1	655	1	CYLD	16	50785659	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	34779	50785659	39569094	11626	15242											
CYLD	1540	broad.mit.edu	37	16	50813864	50813864	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:50813864C>T	ENST00000540145.1	+	9	1842	c.1427C>T	c.(1426-1428)gCt>gTt	p.A476V	CYLD_ENST00000564326.1_Missense_Mutation_p.A473V|CYLD_ENST00000398568.2_Missense_Mutation_p.A473V|CYLD_ENST00000569418.1_Missense_Mutation_p.A473V|CYLD_ENST00000311559.9_Missense_Mutation_p.A476V|CYLD_ENST00000427738.3_Missense_Mutation_p.A476V|CYLD_ENST00000566206.1_Missense_Mutation_p.A473V|CYLD_ENST00000568704.2_Intron			Q9NQC7	CYLD_HUMAN	cylindromatosis (turban tumor syndrome)	476	Interaction with IKBKG/NEMO.|Interaction with TRIP.				cell cycle|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K63-linked deubiquitination|regulation of microtubule cytoskeleton organization|regulation of mitotic cell cycle|translation|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	cytosol|extrinsic to internal side of plasma membrane|microtubule|perinuclear region of cytoplasm|ribosome	proline-rich region binding|protein kinase binding|structural constituent of ribosome|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(9)|lung(17)|pancreas(1)|skin(22)|upper_aerodigestive_tract(1)	62		all_cancers(37;0.0156)				GGCTCATTGGCTGAAGTTAAG	0.512			"Mis, N, F, S"		cylindroma	cylindroma			Multiple Trichoepithelioma, Familial;Familial Cylindromatosis				26	38					0	0	1	0	0	T	50813864	C	T	50813864	3	4	81	1	0	0	0	0	1	0	0	0	4166	797	28	2	1453	2	CYLD	16	50813864	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	28205	50813864	39540889	11627	15243											
CYLD	1540	broad.mit.edu	37	16	50828334	50828334	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:50828334G>A	ENST00000540145.1	+	18	3096	c.2681G>A	c.(2680-2682)cGg>cAg	p.R894Q	CYLD_ENST00000564326.1_Missense_Mutation_p.R891Q|CYLD_ENST00000398568.2_Missense_Mutation_p.R891Q|CYLD_ENST00000569418.1_Missense_Mutation_p.R891Q|CYLD_ENST00000311559.9_Missense_Mutation_p.R894Q|CYLD_ENST00000427738.3_Missense_Mutation_p.R894Q|RP11-327F22.4_ENST00000564510.1_RNA|CYLD_ENST00000566206.1_Missense_Mutation_p.R891Q|RP11-327F22.4_ENST00000575917.1_RNA|CYLD_ENST00000568704.2_Missense_Mutation_p.R709Q			Q9NQC7	CYLD_HUMAN	cylindromatosis (turban tumor syndrome)	894					cell cycle|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K63-linked deubiquitination|regulation of microtubule cytoskeleton organization|regulation of mitotic cell cycle|translation|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	cytosol|extrinsic to internal side of plasma membrane|microtubule|perinuclear region of cytoplasm|ribosome	proline-rich region binding|protein kinase binding|structural constituent of ribosome|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(9)|lung(17)|pancreas(1)|skin(22)|upper_aerodigestive_tract(1)	62		all_cancers(37;0.0156)				ATGGCCGATCGGGATGGTACT	0.463			"Mis, N, F, S"		cylindroma	cylindroma			Multiple Trichoepithelioma, Familial;Familial Cylindromatosis				44	75					0	0	1	0	0	A	50828334	G	A	50828334	3	1	81	1	0	0	0	0	1	0	0	0	4166	1116	39	1	2743	1	CYLD	16	50828334	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	14470	50828334	39526419	11628	15244											
SALL1	6299	broad.mit.edu	37	16	51175341	51175341	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:51175341C>G	ENST00000440970.1	-	2	932	c.501G>C	c.(499-501)ttG>ttC	p.L167F	SALL1_ENST00000566102.1_Intron|SALL1_ENST00000541611.1_Intron|SALL1_ENST00000251020.4_Missense_Mutation_p.L264F	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	264					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			AAGATGTTGGCAAGTCTGCAT	0.488													4	96					0	0	1	0	0	G	51175341	C	G	51175341	3	3	81	1	0	0	0	0	1	0	0	0	13862	709	25	5	3190	5	SALL1	16	51175341	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	347007	51175341	39179412	11629	15245											
CHD9	80205	broad.mit.edu	37	16	53272404	53272404	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:53272404G>A	ENST00000566029.1	+	12	2992	c.2783G>A	c.(2782-2784)cGt>cAt	p.R928H	CHD9_ENST00000398510.3_Missense_Mutation_p.R928H|CHD9_ENST00000564845.1_Missense_Mutation_p.R928H|CHD9_ENST00000447540.1_Missense_Mutation_p.R928H			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	928	Helicase ATP-binding.				cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding	p.R928H(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				AGAGAATTTCGTACGTGGACT	0.403													52	93					0	0	1	0	0	A	53272404	G	A	53272404	3	1	81	1	0	0	0	0	1	0	0	0	3354	1145	40	1	2825	1	CHD9	16	53272404	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2097063	53272404	37082349	11630	15246											
CHD9	80205	broad.mit.edu	37	16	53279639	53279639	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:53279639C>T	ENST00000566029.1	+	15	3540	c.3331C>T	c.(3331-3333)Cgg>Tgg	p.R1111W	CHD9_ENST00000398510.3_Missense_Mutation_p.R1111W|CHD9_ENST00000564845.1_Missense_Mutation_p.R1111W|CHD9_ENST00000447540.1_Missense_Mutation_p.R1111W			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	1111					cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				GAAATACTACCGGGCTATCTT	0.358													15	36					0	0	1	0	0	T	53279639	C	T	53279639	3	4	81	1	0	0	0	0	1	0	0	0	3354	643	23	1	3385	1	CHD9	16	53279639	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	7235	53279639	37075114	11631	15247											
RBL2	5934	broad.mit.edu	37	16	53472995	53472995	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:53472995G>A	ENST00000262133.6	+	2	445	c.308G>A	c.(307-309)aGc>aAc	p.S103N		NM_005611.3	NP_005602.3	Q08999	RBL2_HUMAN	retinoblastoma-like 2 (p130)	103					cell cycle|chromatin modification|regulation of cell cycle|regulation of lipid kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						CCAACTGTAAGCAAAGGGACA	0.353													24	42					0	0	1	0	0	A	53472995	G	A	53472995	3	1	81	1	0	0	0	0	1	0	0	0	13162	971	34	2	314	2	RBL2	16	53472995	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	193356	53472995	36881758	11632	15248											
RBL2	5934	broad.mit.edu	37	16	53496517	53496517	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:53496517G>A	ENST00000262133.6	+	11	1647	c.1510G>A	c.(1510-1512)Gaa>Aaa	p.E504K	RBL2_ENST00000379935.4_3'UTR|RBL2_ENST00000544545.1_Missense_Mutation_p.E288K	NM_005611.3	NP_005602.3	Q08999	RBL2_HUMAN	retinoblastoma-like 2 (p130)	504	Domain A.|Pocket; binds E1A.				cell cycle|chromatin modification|regulation of cell cycle|regulation of lipid kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						TAAAGTATTAGAATCTGTTAT	0.323													23	33					0	0	1	0	0	A	53496517	G	A	53496517	3	1	81	1	0	0	0	0	1	0	0	0	13162	943	33	2	1552	2	RBL2	16	53496517	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	23522	53496517	36858236	11633	15249											
AKTIP	64400	broad.mit.edu	37	16	53532473	53532473	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:53532473G>A	ENST00000394657.7	-	3	252	c.78C>T	c.(76-78)gaC>gaT	p.D26D	AKTIP_ENST00000300245.4_Silent_p.D26D|AKTIP_ENST00000570004.1_Silent_p.D26D	NM_001012398.1|NM_022476.2	NP_001012398.1|NP_071921.1	Q9H8T0	AKTIP_HUMAN	AKT interacting protein						apoptosis|early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|positive regulation of protein binding|positive regulation of protein phosphorylation|protein transport	FHF complex|plasma membrane	acid-amino acid ligase activity|protein binding			large_intestine(1)|lung(2)|prostate(2)	5		all_cancers(37;0.14)				TGGTTTTCACGTCCCCTGTTA	0.418													42	51					0	0	1	0	0	A	53532473	G	A	53532473	2	1	81	1	0	0	0	0	0	0	0	1	479	1136	40	1		1	AKTIP	16	53532473	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	35956	53532473	36822280	11634	15250											
RPGRIP1L	23322	broad.mit.edu	37	16	53691517	53691517	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:53691517G>T	ENST00000262135.4	-	13	1522	c.1429C>A	c.(1429-1431)Ctt>Att	p.L477I	RPGRIP1L_ENST00000564374.1_Missense_Mutation_p.L477I|RPGRIP1L_ENST00000563746.1_Missense_Mutation_p.L477I|RPGRIP1L_ENST00000379925.3_Missense_Mutation_p.L477I	NM_001127897.1	NP_001121369.1	Q68CZ1	FTM_HUMAN	RPGRIP1-like	477					negative regulation of G-protein coupled receptor protein signaling pathway	cell-cell junction|centrosome|cilium axoneme|microtubule basal body	thromboxane A2 receptor binding			endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2)	46		all_cancers(37;0.0973)				AAAAAGGAAAGGTCTCCATTT	0.313													16	31					1.02788e-11	1.2764e-11	1	1	0	T	53691517	G	T	53691517	3	4	81	1	0	0	0	0	1	0	0	0	13602	1000	35	4	2578	4	RPGRIP1L	16	53691517	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	159044	53691517	36663236	11635	15251											
IRX5	10265	broad.mit.edu	37	16	54967551	54967551	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:54967551G>A	ENST00000394636.4	+	3	1555	c.1218G>A	c.(1216-1218)gcG>gcA	p.A406A	IRX5_ENST00000558597.1_Silent_p.A340A|IRX5_ENST00000560154.1_Silent_p.A186A|IRX5_ENST00000320990.5_Silent_p.A405A			P78411	IRX5_HUMAN	iroquois homeobox 5	406					response to stimulus|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|vitamin D binding			kidney(3)|large_intestine(6)|lung(4)|prostate(1)	14						ACTACACCGCGCCCTTCTATC	0.701													7	28					0	0	1	0	0	A	54967551	G	A	54967551	2	1	81	1	0	0	0	0	0	0	0	1	7891	1074	38	1		1	IRX5	16	54967551	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1276034	54967551	35387202	11636	15252											
LPCAT2	54947	broad.mit.edu	37	16	55566747	55566747	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:55566747C>T	ENST00000262134.5	+	6	899	c.715C>T	c.(715-717)Cca>Tca	p.P239S		NM_017839.4	NP_060309.2	Q7L5N7	PCAT2_HUMAN	lysophosphatidylcholine acyltransferase 2	239					cellular membrane organization|platelet activating factor biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|Golgi stack|integral to membrane	1-acylglycerophosphocholine O-acyltransferase activity|1-alkylglycerophosphocholine O-acetyltransferase activity|calcium ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	12						AGCCTTCATTCCAGGAGTTCC	0.353													10	27					0	0	1	0	0	T	55566747	C	T	55566747	3	4	81	1	0	0	0	0	1	0	0	0	8956	855	30	2	737	2	LPCAT2	16	55566747	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	599196	55566747	34788006	11637	15253											
LPCAT2	54947	broad.mit.edu	37	16	55584911	55584911	+	Missense_Mutation	SNP	C	C	T	rs139462449		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:55584911C>T	ENST00000262134.5	+	11	1296	c.1112C>T	c.(1111-1113)gCg>gTg	p.A371V		NM_017839.4	NP_060309.2	Q7L5N7	PCAT2_HUMAN	lysophosphatidylcholine acyltransferase 2	371					cellular membrane organization|platelet activating factor biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|Golgi stack|integral to membrane	1-acylglycerophosphocholine O-acyltransferase activity|1-alkylglycerophosphocholine O-acetyltransferase activity|calcium ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	12						GCATCTATTGCGAGTTCCTCA	0.348													35	43					0	0	1	0	0	T	55584911	C	T	55584911	3	4	81	1	0	0	0	0	1	0	0	0	8956	768	27	1	1154	1	LPCAT2	16	55584911	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	18164	55584911	34769842	11638	15254											
CAPNS2	84290	broad.mit.edu	37	16	55601250	55601250	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:55601250C>T	ENST00000457326.2	+	1	667	c.582C>T	c.(580-582)gtC>gtT	p.V194V	LPCAT2_ENST00000262134.5_Intron|LPCAT2_ENST00000565056.1_Intron	NM_032330.1	NP_115706.1	Q96L46	CPNS2_HUMAN	calpain, small subunit 2	194	EF-hand 3.					cytoplasm|plasma membrane	calcium ion binding			central_nervous_system(1)|large_intestine(1)|lung(3)|prostate(2)	7						AAATGATTGTCCGCCGGTATG	0.493													90	105					0	0	1	0	0	T	55601250	C	T	55601250	2	4	81	1	0	0	0	0	0	0	0	1	2652	842	30	2		2	CAPNS2	16	55601250	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	16339	55601250	34753503	11639	15255											
CAPNS2	84290	broad.mit.edu	37	16	55601375	55601375	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:55601375T>C	ENST00000457326.2	+	1	792	c.707T>C	c.(706-708)gTg>gCg	p.V236A	LPCAT2_ENST00000262134.5_Intron|LPCAT2_ENST00000565056.1_Intron	NM_032330.1	NP_115706.1	Q96L46	CPNS2_HUMAN	calpain, small subunit 2	236	EF-hand 4.					cytoplasm|plasma membrane	calcium ion binding			central_nervous_system(1)|large_intestine(1)|lung(3)|prostate(2)	7						CTGATTCAAGTGTCTATCAAA	0.463													12	141					0	0	1	0	0	C	55601375	T	C	55601375	3	2	81	1	0	0	0	0	1	0	0	0	2652	1696	59	3	709	3	CAPNS2	16	55601375	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	125	55601375	34753378	11640	15256											
SLC6A2	6530	broad.mit.edu	37	16	55732428	55732428	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:55732428C>A	ENST00000379906.2	+	10	1692	c.1437C>A	c.(1435-1437)acC>acA	p.T479T	SLC6A2_ENST00000414754.3_Silent_p.T479T|SLC6A2_ENST00000566163.1_Silent_p.T434T|SLC6A2_ENST00000219833.8_Silent_p.T479T|SLC6A2_ENST00000561820.1_Silent_p.T479T|SLC6A2_ENST00000567238.1_Silent_p.T374T|SLC6A2_ENST00000568943.1_Silent_p.T479T	NM_001043.3	NP_001034.1	P23975	SC6A2_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 2	479					synaptic transmission	integral to plasma membrane|membrane fraction	norepinephrine:sodium symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(3)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267)	Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Atomoxetine(DB00289)|Bethanidine(DB00217)|Bupropion(DB01156)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Diethylpropion(DB00937)|Doxepin(DB01142)|Duloxetine(DB00476)|Ergotamine(DB00696)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Maprotiline(DB00934)|Mazindol(DB00579)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)	CTGCGGGCACCTCCATCCTTT	0.532													6	77					0.000157383	0.000171784	1	1	0	A	55732428	C	A	55732428	2	1	81	1	0	0	0	0	0	0	0	1	14738	668	24	4		4	SLC6A2	16	55732428	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	131053	55732428	34622325	11641	15257											
CES1	1066	broad.mit.edu	37	16	55860116	55860116	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:55860116G>A	ENST00000422046.2	-	3	630	c.349C>T	c.(349-351)Ctt>Ttt	p.L117F	CES1_ENST00000361503.4_Missense_Mutation_p.L117F|CES1_ENST00000360526.3_Missense_Mutation_p.L118F|CES1_ENST00000566555.1_5'UTR			P23141	EST1_HUMAN	carboxylesterase 1	117					response to toxin	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity								all cancers(182;0.13)|Epithelial(162;0.137)	Aminoglutethimide(DB00357)|Bezafibrate(DB01393)|Cholestyramine(DB01432)|Moexipril(DB00691)	TTGAGGTAAAGACAGTCTTCA	0.517													84	165					0	0	1	0	0	A	55860116	G	A	55860116	3	1	81	1	0	0	0	0	1	0	0	0	3291	942	33	2	1402	2	CES1	16	55860116	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	127688	55860116	34494637	11642	15258											
GNAO1	2775	broad.mit.edu	37	16	56388803	56388803	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:56388803C>T	ENST00000262493.6	+	8	1749	c.903C>T	c.(901-903)gcC>gcT	p.A301A		NM_020988.2	NP_066268.1	P09471	GNAO_HUMAN	guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O	301					dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|muscle contraction	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|metabotropic serotonin receptor binding|signal transducer activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)	17		all_neural(199;0.159)				AAGACGCAGCCGCCTACATCC	0.507													13	33					0	0	1	0	0	T	56388803	C	T	56388803	2	4	81	1	0	0	0	0	0	0	0	1	6550	639	23	1		1	GNAO1	16	56388803	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	528687	56388803	33965950	11643	15259											
AMFR	267	broad.mit.edu	37	16	56423204	56423204	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:56423204A>G	ENST00000290649.5	-	9	1379	c.1169T>C	c.(1168-1170)gTc>gCc	p.V390A		NM_001144.5	NP_001135.3	Q9UKV5	AMFR2_HUMAN	autocrine motility factor receptor, E3 ubiquitin protein ligase	390					endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|protein oligomerization|protein polyubiquitination	integral to endoplasmic reticulum membrane|integral to membrane of membrane fraction	protein binding|receptor activity|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17						TTCTTCCCTGACACGATTATT	0.453													37	58					0	0	1	0	0	G	56423204	A	G	56423204	3	3	81	1	0	0	0	0	1	0	0	0	567	275	10	3	786	3	AMFR	16	56423204	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	34401	56423204	33931549	11644	15260											
MT4	84560	broad.mit.edu	37	16	56602768	56602768	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:56602768G>A	ENST00000219162.3	+	3	193	c.113G>A	c.(112-114)tGc>tAc	p.C38Y		NM_032935.2	NP_116324	P47944	MT4_HUMAN	metallothionein 4	38						cytoplasm	copper ion binding|zinc ion binding			ovary(1)|upper_aerodigestive_tract(1)	2						TGTCCCTGCTGCCCCCCGGGC	0.602													66	133					0	0	1	0	0	A	56602768	G	A	56602768	3	1	81	1	0	0	0	0	1	0	0	0	9955	1319	46	2	123	2	MT4	16	56602768	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	179564	56602768	33751985	11645	15261											
MT2A	4502	broad.mit.edu	37	16	56642952	56642952	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:56642952G>A	ENST00000245185.5	+	2	534	c.77G>A	c.(76-78)tGc>tAc	p.C26Y	MT2A_ENST00000561491.1_Missense_Mutation_p.C26Y|MT2A_ENST00000563985.1_3'UTR	NM_005953.3	NP_005944.1	P02795	MT2_HUMAN	metallothionein 2A	26	Beta.				cellular copper ion homeostasis|interferon-gamma-mediated signaling pathway		metal ion binding|protein binding			breast(1)|endometrium(1)|lung(1)	3						GAGTGCAAATGCACCTCCTGC	0.542													22	30					0	0	1	0	0	A	56642952	G	A	56642952	3	1	81	1	0	0	0	0	1	0	0	0	9953	1319	46	2	83	2	MT2A	16	56642952	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	40184	56642952	33711801	11646	15262											
MT1B	4490	broad.mit.edu	37	16	56686499	56686499	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:56686499C>T	ENST00000334346.2	+	2	100	c.45C>T	c.(43-45)tgC>tgT	p.C15C	RP11-249C24.11_ENST00000568608.1_RNA|MT1B_ENST00000562399.1_Silent_p.C15C	NM_005947.2	NP_005938.1	P07438	MT1B_HUMAN	metallothionein 1B	15	Beta.					cytoplasm	cadmium ion binding|copper ion binding|zinc ion binding			endometrium(1)|large_intestine(1)|lung(1)|ovary(1)	4						CCTGTGCCTGCGCCGGCTCCT	0.552													32	53					0	0	1	0	0	T	56686499	C	T	56686499	2	4	81	1	0	0	0	0	0	0	0	1	9946	776	27	1		1	MT1B	16	56686499	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	43547	56686499	33668254	11647	15263											
NUP93	9688	broad.mit.edu	37	16	56839423	56839423	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:56839423G>A	ENST00000569842.1	+	5	464	c.368G>A	c.(367-369)gGc>gAc	p.G123D	NUP93_ENST00000569595.1_3'UTR|NUP93_ENST00000308159.5_Missense_Mutation_p.G123D|NUP93_ENST00000564887.1_5'UTR|NUP93_ENST00000542526.1_5'UTR			Q8N1F7	NUP93_HUMAN	nucleoporin 93kDa	123					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(2)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						CAGACCTTCGGCATGGCTGAG	0.483													36	31					0	0	1	0	0	A	56839423	G	A	56839423	3	1	81	1	0	0	0	0	1	0	0	0	10820	1203	42	2	382	2	NUP93	16	56839423	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	152924	56839423	33515330	11648	15264											
NUP93	9688	broad.mit.edu	37	16	56868649	56868649	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:56868649G>A	ENST00000564887.1	+	14	2001	c.1372G>A	c.(1372-1374)Gat>Aat	p.D458N	NUP93_ENST00000308159.5_Missense_Mutation_p.D581N|NUP93_ENST00000569842.1_Missense_Mutation_p.D581N|NUP93_ENST00000542526.1_Missense_Mutation_p.D458N	NM_001242795.1	NP_001229724.1	Q8N1F7	NUP93_HUMAN	nucleoporin 93kDa	581					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(2)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						TCCACAGTTCGATATGATTCT	0.338													6	42					0	0	1	0	0	A	56868649	G	A	56868649	3	1	81	1	0	0	0	0	1	0	0	0	10820	1058	37	1	1799	1	NUP93	16	56868649	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	29226	56868649	33486104	11649	15265											
SLC12A3	6559	broad.mit.edu	37	16	56913136	56913136	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:56913136C>T	ENST00000438926.2	+	10	1361	c.1332C>T	c.(1330-1332)taC>taT	p.Y444Y	SLC12A3_ENST00000566786.1_Silent_p.Y443Y|SLC12A3_ENST00000262502.5_Silent_p.Y443Y|SLC12A3_ENST00000563236.1_Silent_p.Y444Y	NM_000339.2|NM_001126107.1|NM_001126108.1	NP_000330|NP_001119579.1|NP_001119580.1	P55017	S12A3_HUMAN	solute carrier family 12 (sodium/chloride transporter), member 3	444					sodium ion transmembrane transport	apical plasma membrane|integral to plasma membrane|membrane fraction	sodium:chloride symporter activity			breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	TCAACTATTACCAGGTACTGC	0.627													9	24					0	0	1	0	0	T	56913136	C	T	56913136	2	4	81	1	0	0	0	0	0	0	0	1	14439	518	18	2		2	SLC12A3	16	56913136	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	44487	56913136	33441617	11650	15266											
HERPUD1	9709	broad.mit.edu	37	16	56969209	56969209	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:56969209G>T	ENST00000439977.2	+	2	407	c.210G>T	c.(208-210)agG>agT	p.R70S	HERPUD1_ENST00000344114.4_Missense_Mutation_p.R70S|HERPUD1_ENST00000379792.2_Missense_Mutation_p.R70S|HERPUD1_ENST00000300302.5_Missense_Mutation_p.R70S|HERPUD1_ENST00000570273.1_3'UTR	NM_001010989.1|NM_014685.2	NP_001010989.1|NP_055500.1	Q15011	HERP1_HUMAN	homocysteine-inducible, endoplasmic reticulum stress-inducible, ubiquitin-like domain member 1	70	Ubiquitin-like.					endoplasmic reticulum membrane|integral to membrane	protein binding			cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|stomach(1)	11						AATGTCTCAGGGACTTGCTTC	0.413			T	ERG	prostate								8	77					1.06961e-07	1.25755e-07	1	1	0	T	56969209	G	T	56969209	3	4	81	1	0	0	0	0	1	0	0	0	7104	1223	43	5	216	5	HERPUD1	16	56969209	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	56073	56969209	33385544	11651	15267											
CETP	1071	broad.mit.edu	37	16	57012048	57012048	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:57012048C>T	ENST00000200676.3	+	11	1157	c.1027C>T	c.(1027-1029)Ctc>Ttc	p.L343F	CETP_ENST00000566128.1_Missense_Mutation_p.L278F|CETP_ENST00000379780.2_Missense_Mutation_p.L283F	NM_000078.2	NP_000069.2	P11597	CETP_HUMAN	cholesteryl ester transfer protein, plasma	343					cholesterol homeostasis|cholesterol metabolic process|high-density lipoprotein particle remodeling|lipoprotein metabolic process|low-density lipoprotein particle remodeling|phosphatidylcholine metabolic process|phospholipid homeostasis|receptor-mediated endocytosis|regulation of cholesterol efflux|triglyceride homeostasis|triglyceride metabolic process|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle|vesicle	cholesterol binding|cholesterol transporter activity|phosphatidylcholine binding|phospholipid transporter activity|triglyceride binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(4)|skin(3)	23						CGTCCACTGCCTCAAGATGCC	0.582													34	65					0	0	1	0	0	T	57012048	C	T	57012048	3	4	81	1	0	0	0	0	1	0	0	0	3299	681	24	2	1069	2	CETP	16	57012048	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	42839	57012048	33342705	11652	15268											
NLRC5	84166	broad.mit.edu	37	16	57063993	57063993	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:57063993C>T	ENST00000436936.1	+	10	2639	c.2414C>T	c.(2413-2415)gCc>gTc	p.A805V	NLRC5_ENST00000539144.1_Missense_Mutation_p.A805V|NLRC5_ENST00000262510.6_Missense_Mutation_p.A805V|NLRC5_ENST00000308149.7_Missense_Mutation_p.A805V			Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	805					defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				ATGCTTCAGGCCAGGTGAGCA	0.562													5	44					0	0	1	0	0	T	57063993	C	T	57063993	3	4	81	1	0	0	0	0	1	0	0	0	10517	739	26	2	2444	2	NLRC5	16	57063993	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	51945	57063993	33290760	11653	15269											
NLRC5	84166	broad.mit.edu	37	16	57092917	57092917	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:57092917C>A	ENST00000436936.1	+	29	4089	c.3864C>A	c.(3862-3864)gcC>gcA	p.A1288A	NLRC5_ENST00000539144.1_Silent_p.A1259A|NLRC5_ENST00000262510.6_Silent_p.A1288A|NLRC5_ENST00000308149.7_Silent_p.A1259A			Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	1288					defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				AGGAAAGTGCCCTGTACCTGC	0.587													103	150					3.676e-42	4.93839e-42	1	1	0	A	57092917	C	A	57092917	2	1	81	1	0	0	0	0	0	0	0	1	10517	610	22	5		5	NLRC5	16	57092917	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	28924	57092917	33261836	11654	15270											
CPNE2	221184	broad.mit.edu	37	16	57144795	57144795	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:57144795C>A	ENST00000535318.2	+	3	502	c.141C>A	c.(139-141)ttC>ttA	p.F47L	CPNE2_ENST00000537605.1_5'UTR|CPNE2_ENST00000565874.1_Missense_Mutation_p.F47L|CPNE2_ENST00000290776.8_Missense_Mutation_p.F47L			Q96FN4	CPNE2_HUMAN	copine II	47	C2 1.									central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(5)	21		all_neural(199;0.224)				CCGACCCCTTCTGTGTCCTCT	0.602													18	73					1.96292e-10	2.40212e-10	1	1	0	A	57144795	C	A	57144795	3	1	81	1	0	0	0	0	1	0	0	0	3835	912	32	4	143	4	CPNE2	16	57144795	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	51878	57144795	33209958	11655	15271											
RSPRY1	89970	broad.mit.edu	37	16	57238868	57238868	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:57238868G>A	ENST00000537866.1	+	2	1171	c.298G>A	c.(298-300)Gtg>Atg	p.V100M	RSPRY1_ENST00000394420.4_Missense_Mutation_p.V100M			Q96DX4	RSPRY_HUMAN	ring finger and SPRY domain containing 1	100						extracellular region	zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|urinary_tract(3)	27						GAAACAAAATGTGGATGGGCT	0.517													17	26					0	0	1	0	0	A	57238868	G	A	57238868	3	1	81	1	0	0	0	0	1	0	0	0	13765	1377	48	2	300	2	RSPRY1	16	57238868	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	94073	57238868	33115885	11656	15272											
RSPRY1	89970	broad.mit.edu	37	16	57247814	57247814	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:57247814G>T	ENST00000537866.1	+	6	1531	c.658G>T	c.(658-660)Ggt>Tgt	p.G220C	RSPRY1_ENST00000394420.4_Missense_Mutation_p.G220C			Q96DX4	RSPRY_HUMAN	ring finger and SPRY domain containing 1	220						extracellular region	zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|urinary_tract(3)	27						TGCAAGTATAGGTTTACTTAG	0.338													12	105					7.93312e-07	9.15943e-07	1	1	0	T	57247814	G	T	57247814	3	4	81	1	0	0	0	0	1	0	0	0	13765	1000	35	4	676	4	RSPRY1	16	57247814	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	8946	57247814	33106939	11657	15273											
RSPRY1	89970	broad.mit.edu	37	16	57254721	57254721	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:57254721G>A	ENST00000537866.1	+	9	1852	c.979G>A	c.(979-981)Gtc>Atc	p.V327I	RSPRY1_ENST00000394420.4_Missense_Mutation_p.V327I			Q96DX4	RSPRY_HUMAN	ring finger and SPRY domain containing 1	327	B30.2/SPRY.					extracellular region	zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|urinary_tract(3)	27						TAGCAATGATGTCAGCGAGTA	0.423													26	41					0	0	1	0	0	A	57254721	G	A	57254721	3	1	81	1	0	0	0	0	1	0	0	0	13765	1377	48	2	1009	2	RSPRY1	16	57254721	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	6907	57254721	33100032	11658	15274											
RSPRY1	89970	broad.mit.edu	37	16	57255217	57255217	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:57255217C>T	ENST00000537866.1	+	10	1924	c.1051C>T	c.(1051-1053)Cgt>Tgt	p.R351C	RSPRY1_ENST00000394420.4_Missense_Mutation_p.R351C			Q96DX4	RSPRY_HUMAN	ring finger and SPRY domain containing 1	351	B30.2/SPRY.					extracellular region	zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|urinary_tract(3)	27						TGAAAGTGTGCGTTGCACCTT	0.483													51	81					0	0	1	0	0	T	57255217	C	T	57255217	3	4	81	1	0	0	0	0	1	0	0	0	13765	768	27	1	1085	1	RSPRY1	16	57255217	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	496	57255217	33099536	11659	15275											
RSPRY1	89970	broad.mit.edu	37	16	57272840	57272840	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:57272840C>T	ENST00000537866.1	+	15	2557	c.1684C>T	c.(1684-1686)Cgt>Tgt	p.R562C	RSPRY1_ENST00000394420.4_Missense_Mutation_p.R562C|RSPRY1_ENST00000563073.1_3'UTR			Q96DX4	RSPRY_HUMAN	ring finger and SPRY domain containing 1	562						extracellular region	zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|urinary_tract(3)	27						CCCATTGTGTCGTAAAGAAAT	0.418													25	40					0	0	1	0	0	T	57272840	C	T	57272840	3	4	81	1	0	0	0	0	1	0	0	0	13765	884	31	1	1738	1	RSPRY1	16	57272840	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	17623	57272840	33081913	11660	15276											
POLR2C	5432	broad.mit.edu	37	16	57503104	57503104	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:57503104G>A	ENST00000219252.5	+	5	624	c.286G>A	c.(286-288)Gag>Aag	p.E96K	POLR2C_ENST00000564651.1_3'UTR	NM_032940.2	NP_116558.1	P19387	RPB3_HUMAN	polymerase (RNA) II (DNA directed) polypeptide C, 33kDa	96	Cys-rich.				mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|protein dimerization activity			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(2)|upper_aerodigestive_tract(1)	10						GTTCTGCCCCGAGTGCTCGGT	0.572													38	48					0	0	1	0	0	A	57503104	G	A	57503104	3	1	81	1	0	0	0	0	1	0	0	0	12264	1059	37	1	304	1	POLR2C	16	57503104	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	230264	57503104	32851649	11661	15277											
POLR2C	5432	broad.mit.edu	37	16	57504908	57504908	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:57504908C>A	ENST00000219252.5	+	9	1043	c.705C>A	c.(703-705)tcC>tcA	p.S235S		NM_032940.2	NP_116558.1	P19387	RPB3_HUMAN	polymerase (RNA) II (DNA directed) polypeptide C, 33kDa	235					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|protein dimerization activity			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(2)|upper_aerodigestive_tract(1)	10						ATGTGGAGTCCTGTGGCTCTC	0.527													24	51					7.4402e-23	9.78278e-23	1	1	0	A	57504908	C	A	57504908	2	1	81	1	0	0	0	0	0	0	0	1	12264	668	24	4		4	POLR2C	16	57504908	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1804	57504908	32849845	11662	15278											
DOK4	55715	broad.mit.edu	37	16	57507814	57507814	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:57507814C>T	ENST00000566936.1	-	6	1034	c.737G>A	c.(736-738)aGg>aAg	p.R246K	DOK4_ENST00000569548.1_Splice_Site_p.R246K|DOK4_ENST00000340099.4_Splice_Site_p.R246K			Q8TEW6	DOK4_HUMAN	docking protein 4	246							insulin receptor binding			kidney(1)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(2)	6						CTGCCTCACCCTCACGTTCTT	0.652													13	37					0	0	1	0	0	T	57507814	C	T	57507814	5	4	81	1	0	0	0	0	0	0	1	0	4726	695	24	2	255	2	DOK4	16	57507814	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2906	57507814	32846939	11663	15279											
DOK4	55715	broad.mit.edu	37	16	57509501	57509501	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:57509501G>A	ENST00000566936.1	-	3	503	c.206C>T	c.(205-207)aCg>aTg	p.T69M	DOK4_ENST00000569548.1_Missense_Mutation_p.T69M|DOK4_ENST00000561918.1_5'UTR|DOK4_ENST00000340099.4_Missense_Mutation_p.T69M			Q8TEW6	DOK4_HUMAN	docking protein 4	69	PH.						insulin receptor binding			kidney(1)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(2)	6						GGGGAGCCGCGTAACACACTT	0.572													5	7					0	0	1	0	0	A	57509501	G	A	57509501	3	1	81	1	0	0	0	0	1	0	0	0	4726	1145	40	1	798	1	DOK4	16	57509501	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1687	57509501	32845252	11664	15280											
CCDC102A	92922	broad.mit.edu	37	16	57550268	57550268	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:57550268C>A	ENST00000258214.2	-	7	1602	c.1356G>T	c.(1354-1356)gaG>gaT	p.E452D		NM_033212.3	NP_149989.2	Q96A19	C102A_HUMAN	coiled-coil domain containing 102A	452										endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	8						GCTTCTTCACCTCAGCCTCGT	0.627													18	20					5.03518e-11	6.21509e-11	1	1	0	A	57550268	C	A	57550268	3	1	81	1	0	0	0	0	1	0	0	0	2754	680	24	4	308	4	CCDC102A	16	57550268	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	40767	57550268	32804485	11665	15281											
GPR97	222487	broad.mit.edu	37	16	57717923	57717923	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:57717923C>A	ENST00000333493.4	+	9	1122	c.961C>A	c.(961-963)Ctg>Atg	p.L321M	GPR97_ENST00000327655.6_Missense_Mutation_p.L111M|RP11-405F3.4_ENST00000563062.1_RNA|GPR97_ENST00000450388.3_Missense_Mutation_p.L201M	NM_170776.4	NP_740746.4	Q86Y34	GPR97_HUMAN	G protein-coupled receptor 97	321					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						CCTCCTGAATCTGGCCTTCTT	0.592													9	83					0.000274275	0.000297259	1	1	0	A	57717923	C	A	57717923	3	1	81	1	0	0	0	0	1	0	0	0	6761	912	32	4	995	4	GPR97	16	57717923	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	167655	57717923	32636830	11666	15282											
CCDC135	84229	broad.mit.edu	37	16	57741392	57741392	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:57741392G>A	ENST00000360716.3	+	8	1100	c.879G>A	c.(877-879)ccG>ccA	p.P293P	CCDC135_ENST00000336825.8_Silent_p.P228P|CCDC135_ENST00000394337.4_Silent_p.P293P			Q8IY82	CC135_HUMAN	coiled-coil domain containing 135	293						cytoplasm				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						AGGCAAAGCCGGATGCCCTGC	0.607													13	21					0	0	1	0	0	A	57741392	G	A	57741392	2	1	81	1	0	0	0	0	0	0	0	1	2787	1103	39	1		1	CCDC135	16	57741392	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	23469	57741392	32613361	11667	15283											
CCDC135	84229	broad.mit.edu	37	16	57752284	57752284	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:57752284C>A	ENST00000360716.3	+	9	1324	c.1103C>A	c.(1102-1104)cCt>cAt	p.P368H	CCDC135_ENST00000336825.8_Missense_Mutation_p.P303H|CCDC135_ENST00000394337.4_Missense_Mutation_p.P368H			Q8IY82	CC135_HUMAN	coiled-coil domain containing 135	368						cytoplasm				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						CTGGGTGACCCTGTGAGATGG	0.532													55	101					6.3237e-29	8.41612e-29	1	1	0	A	57752284	C	A	57752284	3	1	81	1	0	0	0	0	1	0	0	0	2787	681	24	4	1129	4	CCDC135	16	57752284	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	10892	57752284	32602469	11668	15284											
KATNB1	10300	broad.mit.edu	37	16	57787351	57787351	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:57787351A>G	ENST00000379661.3	+	12	1489	c.1097A>G	c.(1096-1098)gAc>gGc	p.D366G		NM_005886.2	NP_005877.2	Q9BVA0	KTNB1_HUMAN	katanin p80 (WD repeat containing) subunit B 1	366	Interaction with PAFAH1B1 (By similarity).				cell division|mitosis|negative regulation of microtubule depolymerization|positive regulation of microtubule depolymerization|protein targeting	katanin complex|microtubule|spindle pole	microtubule binding|protein heterodimerization activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_neural(199;0.223)				AGCGAGGATGACCGGGACGAG	0.667													4	51					0	0	1	0	0	G	57787351	A	G	57787351	3	3	81	1	0	0	0	0	1	0	0	0	8031	275	10	3	1139	3	KATNB1	16	57787351	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	35067	57787351	32567402	11669	15285											
KATNB1	10300	broad.mit.edu	37	16	57790311	57790311	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:57790311C>T	ENST00000379661.3	+	19	2154	c.1762C>T	c.(1762-1764)Cgg>Tgg	p.R588W		NM_005886.2	NP_005877.2	Q9BVA0	KTNB1_HUMAN	katanin p80 (WD repeat containing) subunit B 1	588	Interaction with KATNA1 and NDEL1 (By similarity).				cell division|mitosis|negative regulation of microtubule depolymerization|positive regulation of microtubule depolymerization|protein targeting	katanin complex|microtubule|spindle pole	microtubule binding|protein heterodimerization activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_neural(199;0.223)				GATCCTGCAGCGGTTTCTGCC	0.597													45	87					0	0	1	0	0	T	57790311	C	T	57790311	3	4	81	1	0	0	0	0	1	0	0	0	8031	759	27	1	1832	1	KATNB1	16	57790311	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2960	57790311	32564442	11670	15286											
KIFC3	3801	broad.mit.edu	37	16	57799471	57799471	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:57799471A>C	ENST00000379655.4	-	11	1669	c.1412T>G	c.(1411-1413)tTc>tGc	p.F471C	KIFC3_ENST00000541240.1_Missense_Mutation_p.F493C|KIFC3_ENST00000540079.2_Missense_Mutation_p.F369C|KIFC3_ENST00000445690.2_Missense_Mutation_p.F471C|KIFC3_ENST00000421376.2_Missense_Mutation_p.F332C|KIFC3_ENST00000465878.2_Missense_Mutation_p.F332C|KIFC3_ENST00000543930.1_Missense_Mutation_p.F332C|KIFC3_ENST00000539578.1_Missense_Mutation_p.F413C|KIFC3_ENST00000562903.1_Missense_Mutation_p.F332C	NM_005550.3	NP_005541.3	Q9BVG8	KIFC3_HUMAN	kinesin family member C3	471	Kinesin-motor.				epithelial cell-cell adhesion|microtubule-based movement|visual perception|zonula adherens maintenance	centrosome|cytoplasmic vesicle membrane|kinesin complex|microtubule|zonula adherens	ATP binding|microtubule motor activity			breast(2)|central_nervous_system(3)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23		all_neural(199;0.224)				GTCGGCATCGAAAGTCACAGC	0.592													7	2					0	0	1	0	0	C	57799471	A	C	57799471	3	2	81	1	0	0	0	0	1	0	0	0	8356	246	9	5	1134	5	KIFC3	16	57799471	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	9160	57799471	32555282	11671	15287											
KIFC3	3801	broad.mit.edu	37	16	57832019	57832019	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:57832019G>T	ENST00000379655.4	-	2	394	c.137C>A	c.(136-138)cCt>cAt	p.P46H	KIFC3_ENST00000541240.1_Missense_Mutation_p.P68H|KIFC3_ENST00000445690.2_Missense_Mutation_p.P46H	NM_005550.3	NP_005541.3	Q9BVG8	KIFC3_HUMAN	kinesin family member C3	46					epithelial cell-cell adhesion|microtubule-based movement|visual perception|zonula adherens maintenance	centrosome|cytoplasmic vesicle membrane|kinesin complex|microtubule|zonula adherens	ATP binding|microtubule motor activity			breast(2)|central_nervous_system(3)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23		all_neural(199;0.224)				GTGTGGGAAAGGGCGGGCGGC	0.672													3	1					0.115264	0.117126	1	1	0	T	57832019	G	T	57832019	3	4	81	1	0	0	0	0	1	0	0	0	8356	1000	35	4	2445	4	KIFC3	16	57832019	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	32548	57832019	32522734	11672	15288											
CNGB1	1258	broad.mit.edu	37	16	57937774	57937774	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:57937774G>A	ENST00000564448.1	-	27	2788	c.2728C>T	c.(2728-2730)Cgc>Tgc	p.R910C	CNGB1_ENST00000251102.8_Missense_Mutation_p.R916C			Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1	916					sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity	p.R916G(1)		breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						GTCTTGACGCGGTTCTGCACG	0.602													5	31					0	0	1	0	0	A	57937774	G	A	57937774	3	1	81	1	0	0	0	0	1	0	0	0	3623	1116	39	1	1037	1	CNGB1	16	57937774	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	105755	57937774	32416979	11673	15289											
CNGB1	1258	broad.mit.edu	37	16	57951325	57951325	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:57951325A>G	ENST00000564448.1	-	21	2055	c.1995T>C	c.(1993-1995)tgT>tgC	p.C665C	CNGB1_ENST00000251102.8_Silent_p.C671C			Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1	671					sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						GAATCAGCCAACAGTTCCAAT	0.567													4	85					0	0	1	0	0	G	57951325	A	G	57951325	2	3	81	1	0	0	0	0	0	0	0	1	3623	41	2	3		3	CNGB1	16	57951325	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	13551	57951325	32403428	11674	15290											
ZNF319	57567	broad.mit.edu	37	16	58030938	58030938	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:58030938G>A	ENST00000299237.2	-	2	1854	c.1232C>T	c.(1231-1233)tCt>tTt	p.S411F		NM_020807.1	NP_065858.1	Q9P2F9	ZN319_HUMAN	zinc finger protein 319	411					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(2)|lung(4)|ovary(1)|urinary_tract(1)	8						CAGCTCGGCAGATTGGTCAAA	0.652													34	25					0	0	1	0	0	A	58030938	G	A	58030938	3	1	81	1	0	0	0	0	1	0	0	0	17894	942	33	2	520	2	ZNF319	16	58030938	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	79613	58030938	32323815	11675	15291											
ZNF319	57567	broad.mit.edu	37	16	58031995	58031995	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:58031995C>T	ENST00000299237.2	-	2	797	c.175G>A	c.(175-177)Ggc>Agc	p.G59S		NM_020807.1	NP_065858.1	Q9P2F9	ZN319_HUMAN	zinc finger protein 319	59	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(2)|lung(4)|ovary(1)|urinary_tract(1)	8						GGCTGCAGGCCGGGGTCTGGC	0.697													15	23					0	0	1	0	0	T	58031995	C	T	58031995	3	4	81	1	0	0	0	0	1	0	0	0	17894	652	23	1	1577	1	ZNF319	16	58031995	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1057	58031995	32322758	11676	15292											
MMP15	4324	broad.mit.edu	37	16	58073914	58073914	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:58073914G>T	ENST00000219271.3	+	4	1361	c.576G>T	c.(574-576)caG>caT	p.Q192H		NM_002428.2	NP_002419.1	P51511	MMP15_HUMAN	matrix metallopeptidase 15 (membrane-inserted)	192					protein modification process|proteolysis	extracellular matrix|integral to plasma membrane	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|protein binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	18						TGCGGCGACAGAAGGAGGCCG	0.647													4	44					0.00909568	0.00944708	1	1	0	T	58073914	G	T	58073914	3	4	81	1	0	0	0	0	1	0	0	0	9702	933	33	4	590	4	MMP15	16	58073914	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	41919	58073914	32280839	11677	15293											
MMP15	4324	broad.mit.edu	37	16	58075737	58075737	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:58075737C>T	ENST00000219271.3	+	6	1912	c.1127C>T	c.(1126-1128)aCa>aTa	p.T376I		NM_002428.2	NP_002419.1	P51511	MMP15_HUMAN	matrix metallopeptidase 15 (membrane-inserted)	376	Hemopexin-like 1.				protein modification process|proteolysis	extracellular matrix|integral to plasma membrane	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|protein binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	18						GACTTTGACACAGTGGCCATG	0.677													6	17					0	0	1	0	0	T	58075737	C	T	58075737	3	4	81	1	0	0	0	0	1	0	0	0	9702	478	17	2	1149	2	MMP15	16	58075737	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1823	58075737	32279016	11678	15294											
MMP15	4324	broad.mit.edu	37	16	58076166	58076166	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:58076166G>A	ENST00000219271.3	+	7	1981	c.1196G>A	c.(1195-1197)cGc>cAc	p.R399H		NM_002428.2	NP_002419.1	P51511	MMP15_HUMAN	matrix metallopeptidase 15 (membrane-inserted)	399	Hemopexin-like 1.				protein modification process|proteolysis	extracellular matrix|integral to plasma membrane	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|protein binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	18						CGGCACAACCGCGTCCTGGAC	0.637													15	32					0	0	1	0	0	A	58076166	G	A	58076166	3	1	81	1	0	0	0	0	1	0	0	0	9702	1087	38	1	1222	1	MMP15	16	58076166	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	429	58076166	32278587	11679	15295											
CCDC113	29070	broad.mit.edu	37	16	58292308	58292308	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:58292308G>T	ENST00000219299.4	+	4	506	c.427G>T	c.(427-429)Gtt>Ttt	p.V143F	CCDC113_ENST00000443128.2_Missense_Mutation_p.V89F	NM_014157.3	NP_054876.2	Q9H0I3	CC113_HUMAN	coiled-coil domain containing 113	143						protein complex				large_intestine(4)|lung(6)|ovary(1)|urinary_tract(1)	12						ATGGAGTGAAGTTTCGAGAGA	0.413													36	59					1.836e-18	2.38158e-18	1	1	0	T	58292308	G	T	58292308	3	4	81	1	0	0	0	0	1	0	0	0	2768	1029	36	4	441	4	CCDC113	16	58292308	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	216142	58292308	32062445	11680	15296											
CCDC113	29070	broad.mit.edu	37	16	58313629	58313629	+	Missense_Mutation	SNP	G	G	A	rs146122026		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:58313629G>A	ENST00000219299.4	+	9	1161	c.1082G>A	c.(1081-1083)cGa>cAa	p.R361Q	CCDC113_ENST00000443128.2_Missense_Mutation_p.R307Q	NM_014157.3	NP_054876.2	Q9H0I3	CC113_HUMAN	coiled-coil domain containing 113	361						protein complex		p.R361Q(1)		large_intestine(4)|lung(6)|ovary(1)|urinary_tract(1)	12						GCTTGGAATCGAATGAAAATA	0.413													15	19					0	0	1	0	0	A	58313629	G	A	58313629	3	1	81	1	0	0	0	0	1	0	0	0	2768	1058	37	1	1116	1	CCDC113	16	58313629	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	21321	58313629	32041124	11681	15297											
GINS3	64785	broad.mit.edu	37	16	58426548	58426548	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:58426548C>T	ENST00000318129.5	+	1	251	c.43C>T	c.(43-45)Cct>Tct	p.P15S	GINS3_ENST00000426538.2_Missense_Mutation_p.P15S|GINS3_ENST00000328514.7_Missense_Mutation_p.P15S	NM_022770.3	NP_073607.2	Q9BRX5	PSF3_HUMAN	GINS complex subunit 3 (Psf3 homolog)	15	Not essential for folding and stability of GINS complex, but may regulate accessibility to the central complex pore.				DNA replication	nucleus				NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	7						TGCGCTGGGGCCTGAGGAGAA	0.597													22	43					0	0	1	0	0	T	58426548	C	T	58426548	3	4	81	1	0	0	0	0	1	0	0	0	6431	739	26	2	45	2	GINS3	16	58426548	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	112919	58426548	31928205	11682	15298											
NDRG4	65009	broad.mit.edu	37	16	58538058	58538058	+	Splice_Site	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:58538058A>G	ENST00000394282.4	+	5	691	c.284A>G	c.(283-285)cAc>cGc	p.H95R	NDRG4_ENST00000562999.1_Splice_Site_p.H43R|NDRG4_ENST00000566192.1_Splice_Site_p.H43R|NDRG4_ENST00000394279.2_Splice_Site_p.H75R|NDRG4_ENST00000563799.1_Splice_Site_p.D61G|NDRG4_ENST00000563022.1_3'UTR|NDRG4_ENST00000258187.5_Splice_Site_p.H75R|NDRG4_ENST00000356752.4_Splice_Site_p.H73R|NDRG4_ENST00000569923.1_5'UTR|NDRG4_ENST00000570248.1_Splice_Site_p.H43R|NDRG4_ENST00000568640.1_Splice_Site_p.H61R	NM_001130487.1	NP_001123959.1	Q9ULP0	NDRG4_HUMAN	NDRG family member 4	43					cell differentiation|cell growth|multicellular organismal development|response to stress	cytoplasm				breast(1)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	11						GTCTTTGCAGACAAACTATGC	0.577													18	141					0	0	1	0	0	G	58538058	A	G	58538058	5	3	81	1	0	0	0	0	0	0	1	0	10301	289	10	3	302	3	NDRG4	16	58538058	Splice_Site	SNP	A	TCGA-DU-6392-01A-11D-1705-08	111510	58538058	31816695	11683	15299											
NDRG4	65009	broad.mit.edu	37	16	58538092	58538092	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:58538092G>T	ENST00000394282.4	+	5	725	c.318G>T	c.(316-318)gaG>gaT	p.E106D	NDRG4_ENST00000562999.1_Missense_Mutation_p.E54D|NDRG4_ENST00000566192.1_Missense_Mutation_p.E54D|NDRG4_ENST00000394279.2_Missense_Mutation_p.E86D|NDRG4_ENST00000563799.1_Missense_Mutation_p.E72D|NDRG4_ENST00000563022.1_3'UTR|NDRG4_ENST00000258187.5_Missense_Mutation_p.E86D|NDRG4_ENST00000356752.4_Missense_Mutation_p.E84D|NDRG4_ENST00000569923.1_5'UTR|NDRG4_ENST00000570248.1_Missense_Mutation_p.E54D|NDRG4_ENST00000568640.1_Missense_Mutation_p.E72D	NM_001130487.1	NP_001123959.1	Q9ULP0	NDRG4_HUMAN	NDRG family member 4	54					cell differentiation|cell growth|multicellular organismal development|response to stress	cytoplasm				breast(1)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	11						TCAACTTCGAGGACATGCAGG	0.577													9	118					1.76689e-08	2.10148e-08	1	1	0	T	58538092	G	T	58538092	3	4	81	1	0	0	0	0	1	0	0	0	10301	991	35	4	336	4	NDRG4	16	58538092	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	34	58538092	31816661	11684	15300											
NDRG4	65009	broad.mit.edu	37	16	58538527	58538527	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:58538527G>A	ENST00000394282.4	+	7	909	c.502G>A	c.(502-504)Gga>Aga	p.G168R	NDRG4_ENST00000562999.1_Missense_Mutation_p.G116R|NDRG4_ENST00000566192.1_Missense_Mutation_p.G116R|NDRG4_ENST00000394279.2_Missense_Mutation_p.G148R|NDRG4_ENST00000563799.1_Missense_Mutation_p.G134R|NDRG4_ENST00000258187.5_Missense_Mutation_p.G148R|NDRG4_ENST00000356752.4_Missense_Mutation_p.G146R|NDRG4_ENST00000569923.1_Missense_Mutation_p.G61R|NDRG4_ENST00000570248.1_Missense_Mutation_p.G116R|NDRG4_ENST00000568640.1_Missense_Mutation_p.G134R	NM_001130487.1	NP_001123959.1	Q9ULP0	NDRG4_HUMAN	NDRG family member 4	116					cell differentiation|cell growth|multicellular organismal development|response to stress	cytoplasm				breast(1)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	11						AGTGGGCGCCGGAGCCTATGT	0.597													22	38					0	0	1	0	0	A	58538527	G	A	58538527	3	1	81	1	0	0	0	0	1	0	0	0	10301	1117	39	1	528	1	NDRG4	16	58538527	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	435	58538527	31816226	11685	15301											
CNOT1	23019	broad.mit.edu	37	16	58559183	58559183	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:58559183C>T	ENST00000317147.5	-	46	7016	c.6684G>A	c.(6682-6684)gcG>gcA	p.A2228A	CNOT1_ENST00000569240.1_Silent_p.A2223A|CNOT1_ENST00000245138.4_Silent_p.A1079A	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	2228					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol		p.A2228A(1)		breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		TGTGGATGTGCGCAATGGCCT	0.493													18	46					0	0	1	0	0	T	58559183	C	T	58559183	2	4	81	1	0	0	0	0	0	0	0	1	3640	755	27	1		1	CNOT1	16	58559183	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	20656	58559183	31795570	11686	15302											
CNOT1	23019	broad.mit.edu	37	16	58559985	58559985	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:58559985C>A	ENST00000317147.5	-	45	6843	c.6511G>T	c.(6511-6513)Gta>Tta	p.V2171L	CNOT1_ENST00000569240.1_Missense_Mutation_p.V2166L|CNOT1_ENST00000245138.4_Missense_Mutation_p.V1022L	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	2171					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		GGTGGCATTACTCCAGTGAAA	0.413													33	62					1.36615e-20	1.78514e-20	1	1	0	A	58559985	C	A	58559985	3	1	81	1	0	0	0	0	1	0	0	0	3640	565	20	4	639	4	CNOT1	16	58559985	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	802	58559985	31794768	11687	15303											
CNOT1	23019	broad.mit.edu	37	16	58560003	58560003	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:58560003G>T	ENST00000317147.5	-	45	6825	c.6493C>A	c.(6493-6495)Ctc>Atc	p.L2165I	CNOT1_ENST00000569240.1_Missense_Mutation_p.L2160I|CNOT1_ENST00000245138.4_Missense_Mutation_p.L1016I	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	2165					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		AAATTGGTGAGAATCCGGGGA	0.393													6	94					0.00198382	0.00209725	1	1	0	T	58560003	G	T	58560003	3	4	81	1	0	0	0	0	1	0	0	0	3640	942	33	4	657	4	CNOT1	16	58560003	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	18	58560003	31794750	11688	15304											
CNOT1	23019	broad.mit.edu	37	16	58575424	58575424	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:58575424A>C	ENST00000317147.5	-	34	5113	c.4781T>G	c.(4780-4782)tTt>tGt	p.F1594C	CNOT1_ENST00000569240.1_Missense_Mutation_p.F1589C|CNOT1_ENST00000245138.4_Missense_Mutation_p.F445C	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	1594					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		CTGGGCTAAAAATCCCGTGGG	0.383													15	116					0	0	1	0	0	C	58575424	A	C	58575424	3	2	81	1	0	0	0	0	1	0	0	0	3640	14	1	5	2413	5	CNOT1	16	58575424	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	15421	58575424	31779329	11689	15305											
CNOT1	23019	broad.mit.edu	37	16	58576173	58576173	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:58576173A>G	ENST00000317147.5	-	33	4974	c.4642T>C	c.(4642-4644)Tat>Cat	p.Y1548H	CNOT1_ENST00000569240.1_Missense_Mutation_p.Y1543H|CNOT1_ENST00000245138.4_Missense_Mutation_p.Y399H	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	1548					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		TCAGCTTGATATGTTAAAACA	0.408													7	100					0	0	1	0	0	G	58576173	A	G	58576173	3	3	81	1	0	0	0	0	1	0	0	0	3640	449	16	3	2556	3	CNOT1	16	58576173	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	749	58576173	31778580	11690	15306											
CNOT1	23019	broad.mit.edu	37	16	58585554	58585554	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:58585554G>T	ENST00000317147.5	-	23	3472	c.3140C>A	c.(3139-3141)aCt>aAt	p.T1047N	CNOT1_ENST00000569240.1_Missense_Mutation_p.T1042N|CNOT1_ENST00000569732.1_5'UTR|CNOT1_ENST00000441024.2_Missense_Mutation_p.T1047N	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	1047					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		TTTAGCAACAGTGGTAGTTGT	0.473													12	127					7.03913e-09	8.42519e-09	1	1	0	T	58585554	G	T	58585554	3	4	81	1	0	0	0	0	1	0	0	0	3640	1029	36	4	4320	4	CNOT1	16	58585554	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	9381	58585554	31769199	11691	15307											
CNOT1	23019	broad.mit.edu	37	16	58609021	58609021	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:58609021G>T	ENST00000317147.5	-	15	2049	c.1717C>A	c.(1717-1719)Ctg>Atg	p.L573M	CNOT1_ENST00000569240.1_Missense_Mutation_p.L573M|CNOT1_ENST00000441024.2_Missense_Mutation_p.L573M	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	573					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		CCATTTAGCAGCATTGACAAG	0.393													7	93					0.000274275	0.000297259	1	1	0	T	58609021	G	T	58609021	3	4	81	1	0	0	0	0	1	0	0	0	3640	962	34	4	5775	4	CNOT1	16	58609021	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	23467	58609021	31745732	11692	15308											
CNOT1	23019	broad.mit.edu	37	16	58614634	58614634	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:58614634G>A	ENST00000317147.5	-	12	1578	c.1246C>T	c.(1246-1248)Cca>Tca	p.P416S	CNOT1_ENST00000569240.1_Missense_Mutation_p.P416S|CNOT1_ENST00000441024.2_Missense_Mutation_p.P416S	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	416					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		AAGATCTCTGGATTTATAAGG	0.378													24	34					0	0	1	0	0	A	58614634	G	A	58614634	3	1	81	1	0	0	0	0	1	0	0	0	3640	1174	41	2	6258	2	CNOT1	16	58614634	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	5613	58614634	31740119	11693	15309											
CNOT1	23019	broad.mit.edu	37	16	58621775	58621775	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:58621775A>T	ENST00000317147.5	-	4	550	c.218T>A	c.(217-219)tTt>tAt	p.F73Y	CNOT1_ENST00000569240.1_Missense_Mutation_p.F73Y|CNOT1_ENST00000441024.2_Missense_Mutation_p.F73Y	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	73					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		CTGAATCAGAAACTGAGTCTT	0.348													30	35					0	0	1	0	0	T	58621775	A	T	58621775	3	4	81	1	0	0	0	0	1	0	0	0	3640	14	1	5	7318	5	CNOT1	16	58621775	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	7141	58621775	31732978	11694	15310											
CDH11	1009	broad.mit.edu	37	16	65026832	65026832	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:65026832A>G	ENST00000394156.3	-	5	1082	c.629T>C	c.(628-630)gTg>gCg	p.V210A	CDH11_ENST00000566827.1_Missense_Mutation_p.V84A|CDH11_ENST00000268603.4_Missense_Mutation_p.V210A			P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	210	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		CTGTGCTTCCACCGAAAAATA	0.443			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)			6	58					0	0	1	0	0	G	65026832	A	G	65026832	3	3	81	1	0	0	0	0	1	0	0	0	3119	159	6	3	1797	3	CDH11	16	65026832	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	6405057	65026832	25327921	11695	15311											
CDH11	1009	broad.mit.edu	37	16	65032517	65032517	+	Silent	SNP	C	C	T	rs138088413	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:65032517C>T	ENST00000394156.3	-	4	924	c.471G>A	c.(469-471)ccG>ccA	p.P157P	CDH11_ENST00000566827.1_Silent_p.P31P|CDH11_ENST00000268603.4_Silent_p.P157P			P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	157	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding	p.P157P(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		GCAGGAACTCCGGAGGGTTGT	0.582			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)			36	63					0	0	1	0	0	T	65032517	C	T	65032517	2	4	81	1	0	0	0	0	0	0	0	1	3119	639	23	1		1	CDH11	16	65032517	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	5685	65032517	25322236	11696	15312											
CDH11	1009	broad.mit.edu	37	16	65038691	65038691	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:65038691G>A	ENST00000394156.3	-	3	535	c.82C>T	c.(82-84)Cgg>Tgg	p.R28W	CDH11_ENST00000566827.1_Intron|CDH11_ENST00000569624.1_5'UTR|CDH11_ENST00000268603.4_Missense_Mutation_p.R28W			P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	28					adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		AGGTGCCCCCGCCGCTCTGGG	0.612			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)			3	4					0	0	1	0	0	A	65038691	G	A	65038691	3	1	81	1	0	0	0	0	1	0	0	0	3119	1086	38	1	2352	1	CDH11	16	65038691	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	6174	65038691	25316062	11697	15313											
CDH5	1003	broad.mit.edu	37	16	66436740	66436740	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:66436740C>T	ENST00000341529.3	+	12	2171	c.2023C>T	c.(2023-2025)Cgg>Tgg	p.R675W	CDH5_ENST00000539168.1_Missense_Mutation_p.R114W	NM_001795.3	NP_001786.2	P33151	CADH5_HUMAN	cadherin 5, type 2 (vascular endothelium)	675					adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity	integral to membrane|membrane fraction	beta-catenin binding|calcium ion binding|ion channel binding|receptor binding			central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54		Ovarian(137;0.0955)		OV - Ovarian serous cystadenocarcinoma(108;0.107)		caagcccccgcggcccgcgcT	0.726													6	7					0	0	1	0	0	T	66436740	C	T	66436740	3	4	81	1	0	0	0	0	1	0	0	0	3135	759	27	1	2065	1	CDH5	16	66436740	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1398049	66436740	23918013	11698	15314											
TK2	7084	broad.mit.edu	37	16	66551710	66551710	+	Missense_Mutation	SNP	C	C	T	rs149036717	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:66551710C>T	ENST00000299697.7	-	7	870	c.646G>A	c.(646-648)Gtg>Atg	p.V216M	TK2_ENST00000545043.2_Missense_Mutation_p.V149M|TK2_ENST00000564917.1_Missense_Mutation_p.V174M|TK2_ENST00000417693.3_Missense_Mutation_p.V156M|TK2_ENST00000525974.1_Missense_Mutation_p.V77M|TK2_ENST00000544898.1_Missense_Mutation_p.V125M|TK2_ENST00000451102.2_Missense_Mutation_p.V174M|TK2_ENST00000527284.1_Missense_Mutation_p.V143M|TK2_ENST00000563369.2_Missense_Mutation_p.V77M|TK2_ENST00000527800.1_Missense_Mutation_p.V77M	NM_001172644.1|NM_001172645.1|NM_001271934.1|NM_001271935.1|NM_001272050.1|NM_004614.4	NP_001166115.1|NP_001166116.1|NP_001258863.1|NP_001258864.1|NP_001258979.1|NP_004605.4	O00142	KITM_HUMAN	thymidine kinase 2, mitochondrial	174					pyrimidine base metabolic process|pyrimidine nucleoside salvage	mitochondrial matrix	ATP binding|phosphotransferase activity, alcohol group as acceptor|thymidine kinase activity			large_intestine(1)|lung(2)|urinary_tract(1)	4		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0736)|Epithelial(162;0.237)		TCAACAGACACGTCCATGTTC	0.517													17	53					0	0	1	0	0	T	66551710	C	T	66551710	3	4	81	1	0	0	0	0	1	0	0	0	15993	536	19	1	293	1	TK2	16	66551710	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	114970	66551710	23803043	11699	15315											
TK2	7084	broad.mit.edu	37	16	66575796	66575796	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:66575796C>T	ENST00000299697.7	-	3	567	c.343G>A	c.(343-345)Gcg>Acg	p.A115T	TK2_ENST00000545043.2_Intron|TK2_ENST00000564917.1_Missense_Mutation_p.A73T|TK2_ENST00000417693.3_Missense_Mutation_p.A73T|TK2_ENST00000525974.1_5'UTR|TK2_ENST00000544898.1_Missense_Mutation_p.A24T|TK2_ENST00000451102.2_Missense_Mutation_p.A73T|TK2_ENST00000527284.1_Missense_Mutation_p.A42T|TK2_ENST00000563369.2_5'UTR|TK2_ENST00000527800.1_5'UTR	NM_001172644.1|NM_001172645.1|NM_001271934.1|NM_001271935.1|NM_001272050.1|NM_004614.4	NP_001166115.1|NP_001166116.1|NP_001258863.1|NP_001258864.1|NP_001258979.1|NP_004605.4	O00142	KITM_HUMAN	thymidine kinase 2, mitochondrial	73					pyrimidine base metabolic process|pyrimidine nucleoside salvage	mitochondrial matrix	ATP binding|phosphotransferase activity, alcohol group as acceptor|thymidine kinase activity			large_intestine(1)|lung(2)|urinary_tract(1)	4		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0736)|Epithelial(162;0.237)		ACGTCTGTCGCGTTGGAGAAG	0.473													27	46					0	0	1	0	0	T	66575796	C	T	66575796	3	4	81	1	0	0	0	0	1	0	0	0	15993	768	27	1	612	1	TK2	16	66575796	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	24086	66575796	23778957	11700	15316											
CKLF	51192	broad.mit.edu	37	16	66599866	66599866	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:66599866C>T	ENST00000264001.4	+	4	560	c.411C>T	c.(409-411)agC>agT	p.S137S	CKLF_ENST00000362093.4_Silent_p.S52S|CKLF-CMTM1_ENST00000532838.1_Intron|CKLF_ENST00000417030.2_Intron|CKLF_ENST00000351137.4_Silent_p.S84S|CKLF-CMTM1_ENST00000527729.1_Intron|CKLF_ENST00000563092.1_3'UTR|CKLF_ENST00000345436.4_Silent_p.S105S	NM_016951.3	NP_058647.1			chemokine-like factor											endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|upper_aerodigestive_tract(1)	5		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0689)|Epithelial(162;0.217)		TCAATCCCAGCGGTCCTTACC	0.383													26	55					0	0	1	0	0	T	66599866	C	T	66599866	2	4	81	1	0	0	0	0	0	0	0	1	3470	767	27	1		1	CKLF	16	66599866	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	24070	66599866	23754887	11701	15317											
CMTM1	113540	broad.mit.edu	37	16	66600582	66600582	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:66600582G>T	ENST00000379500.2	+	1	233	c.166G>T	c.(166-168)Gtc>Ttc	p.V56F	CMTM1_ENST00000533666.1_Intron|CMTM1_ENST00000457188.2_Intron|CMTM1_ENST00000529506.1_Intron|CMTM1_ENST00000528324.1_Intron|CMTM1_ENST00000535705.1_Intron|CMTM1_ENST00000332695.7_Intron|CMTM1_ENST00000336328.6_Intron|CMTM1_ENST00000531885.1_Intron|CMTM1_ENST00000533953.1_Missense_Mutation_p.V56F|CKLF-CMTM1_ENST00000527729.1_Intron|CMTM1_ENST00000328020.6_Missense_Mutation_p.V56F	NM_052999.3|NM_181268.2	NP_443725.3|NP_851785.2	Q8IZ96	CKLF1_HUMAN	CKLF-like MARVEL transmembrane domain containing 1	0	MARVEL.				chemotaxis	extracellular space|integral to membrane	cytokine activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	7		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0702)|Epithelial(162;0.222)		GCACCCCGCAGTCTCAATTCG	0.657													4	50					0.00909568	0.00944708	1	1	0	T	66600582	G	T	66600582	3	4	81	1	0	0	0	0	1	0	0	0	3605	1029	36	4	168	4	CMTM1	16	66600582	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	716	66600582	23754171	11702	15318											
CMTM4	146223	broad.mit.edu	37	16	66657318	66657318	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:66657318T>G	ENST00000330687.4	-	3	632	c.451A>C	c.(451-453)Att>Ctt	p.I151L	CMTM4_ENST00000563952.1_Missense_Mutation_p.I122L|CMTM4_ENST00000394106.2_Missense_Mutation_p.I151L	NM_178818.2|NM_181521.2	NP_848933.1|NP_852662.1	Q8IZR5	CKLF4_HUMAN	CKLF-like MARVEL transmembrane domain containing 4	151	MARVEL.				chemotaxis	extracellular space|integral to membrane	cytokine activity			cervix(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|pancreas(1)|stomach(1)	9		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0811)|Epithelial(162;0.214)		ACGGCAGCAATTTCTGCTCCG	0.507													14	37					0	0	1	0	0	G	66657318	T	G	66657318	3	3	81	1	0	0	0	0	1	0	0	0	3608	1493	52	4	269	4	CMTM4	16	66657318	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	56736	66657318	23697435	11703	15319											
DYNC1LI2	1783	broad.mit.edu	37	16	66757651	66757651	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:66757651T>C	ENST00000258198.2	-	13	1659	c.1453A>G	c.(1453-1455)Aac>Gac	p.N485D	DYNC1LI2_ENST00000379482.2_Intron|RP11-63M22.2_ENST00000569274.1_RNA|DYNC1LI2_ENST00000443351.2_Missense_Mutation_p.N408D	NM_006141.2	NP_006132.1	O43237	DC1L2_HUMAN	dynein, cytoplasmic 1, light intermediate chain 2	485					transport	centrosome|cytoplasmic dynein complex|microtubule	ATP binding|motor activity			central_nervous_system(3)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(4)|stomach(1)	15		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0907)|Epithelial(162;0.212)		GTTGAAGAGTTTGTTACCATA	0.353													11	39					0	0	1	0	0	C	66757651	T	C	66757651	3	2	81	1	0	0	0	0	1	0	0	0	4871	1841	64	3	29	3	DYNC1LI2	16	66757651	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	100333	66757651	23597102	11704	15320											
DYNC1LI2	1783	broad.mit.edu	37	16	66762943	66762943	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:66762943C>A	ENST00000258198.2	-	9	1307	c.1101G>T	c.(1099-1101)caG>caT	p.Q367H	DYNC1LI2_ENST00000570201.1_5'UTR|DYNC1LI2_ENST00000379482.2_Intron|RP11-63M22.2_ENST00000569274.1_RNA|DYNC1LI2_ENST00000443351.2_Splice_Site_p.Q290H	NM_006141.2	NP_006132.1	O43237	DC1L2_HUMAN	dynein, cytoplasmic 1, light intermediate chain 2	367					transport	centrosome|cytoplasmic dynein complex|microtubule	ATP binding|motor activity			central_nervous_system(3)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(4)|stomach(1)	15		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0907)|Epithelial(162;0.212)		GTCTTCTTACCTGTTGCTTCA	0.498											OREG0023862	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	138					2.80697e-09	3.37799e-09	1	1	0	A	66762943	C	A	66762943	5	1	81	1	0	0	0	0	0	0	1	0	4871	695	24	4	397	4	DYNC1LI2	16	66762943	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	5292	66762943	23591810	11705	15321											
NAE1	8883	broad.mit.edu	37	16	66842453	66842453	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:66842453C>A	ENST00000379463.2	-	18	1475	c.1283G>T	c.(1282-1284)aGa>aTa	p.R428I	NAE1_ENST00000359087.4_Missense_Mutation_p.R437I|NAE1_ENST00000394074.2_Missense_Mutation_p.R345I|NAE1_ENST00000290810.3_Missense_Mutation_p.R434I	NM_001018159.1	NP_001018169.1	Q13564	ULA1_HUMAN	NEDD8 activating enzyme E1 subunit 1	434					apoptosis|cell cycle|DNA replication|mitotic cell cycle DNA replication checkpoint|protein neddylation|signal transduction	cytoplasm|insoluble fraction|plasma membrane	catalytic activity|protein heterodimerization activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0914)|Epithelial(162;0.214)	Adenosine triphosphate(DB00171)	TTTATGAAATCTATCAACAGC	0.289													71	80					2.05912e-35	2.75808e-35	1	1	0	A	66842453	C	A	66842453	3	1	81	1	0	0	0	0	1	0	0	0	10187	913	32	4	319	4	NAE1	16	66842453	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	79510	66842453	23512300	11706	15322											
CA7	766	broad.mit.edu	37	16	66886638	66886638	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:66886638C>T	ENST00000394069.3	+	6	803	c.372C>T	c.(370-372)tgC>tgT	p.C124C	RP11-61A14.1_ENST00000551187.1_RNA|CA7_ENST00000338437.2_Silent_p.C180C	NM_001014435.1	NP_001014435.1	P43166	CAH7_HUMAN	carbonic anhydrase VII	180					one-carbon metabolic process	cytoplasm	carbonate dehydratase activity|zinc ion binding			kidney(1)|large_intestine(1)|lung(4)	6		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.088)|Epithelial(162;0.204)		AGTTCAGCTGCTTCAACCCCA	0.592													15	32					0	0	1	0	0	T	66886638	C	T	66886638	2	4	81	1	0	0	0	0	0	0	0	1	2540	805	28	2		2	CA7	16	66886638	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	44185	66886638	23468115	11707	15323											
PDP2	57546	broad.mit.edu	37	16	66918675	66918675	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:66918675C>T	ENST00000311765.2	+	2	822	c.488C>T	c.(487-489)tCc>tTc	p.S163F	PDP2_ENST00000568720.1_Intron	NM_020786.2	NP_065837.1	Q9P2J9	PDP2_HUMAN	pyruvate dehyrogenase phosphatase catalytic subunit 2	163					pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix|protein serine/threonine phosphatase complex	[pyruvate dehydrogenase (lipoamide)] phosphatase activity|metal ion binding			kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	12		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.088)|Epithelial(162;0.204)		GTGGCAGTGTCCCTGATGTCC	0.547													16	27					0	0	1	0	0	T	66918675	C	T	66918675	3	4	81	1	0	0	0	0	1	0	0	0	11733	855	30	2	490	2	PDP2	16	66918675	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	32037	66918675	23436078	11708	15324											
RRAD	6236	broad.mit.edu	37	16	66956204	66956204	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:66956204C>T	ENST00000299759.6	-	5	952	c.702G>A	c.(700-702)gcG>gcA	p.A234A	RRAD_ENST00000420652.1_Silent_p.A234A			P55042	RAD_HUMAN	Ras-related associated with diabetes	234					small GTPase mediated signal transduction	plasma membrane	calmodulin binding|GTP binding|GTPase activity			endometrium(2)|kidney(4)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|urinary_tract(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0862)|Epithelial(162;0.198)		GGTGCAATGCCGCTGATGTCT	0.592													19	40					0	0	1	0	0	T	66956204	C	T	66956204	2	4	81	1	0	0	0	0	0	0	0	1	13723	639	23	1		1	RRAD	16	66956204	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	37529	66956204	23398549	11709	15325											
CES2	8824	broad.mit.edu	37	16	66974239	66974239	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:66974239G>A	ENST00000317091.4	+	4	1714	c.730G>A	c.(730-732)Ggt>Agt	p.G244S	CES2_ENST00000417689.1_Missense_Mutation_p.G244S	NM_003869.5	NP_003860.2	O00748	EST2_HUMAN	carboxylesterase 2	180					catabolic process	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity			breast(1)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|urinary_tract(1)	12		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0663)|Epithelial(162;0.166)		GTACCGCCTGGGTGTCCTGGG	0.607													35	33					0	0	1	0	0	A	66974239	G	A	66974239	3	1	81	1	0	0	0	0	1	0	0	0	3292	1232	43	2	744	2	CES2	16	66974239	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	18035	66974239	23380514	11710	15326											
CES3	23491	broad.mit.edu	37	16	66997236	66997236	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:66997236C>T	ENST00000303334.4	+	2	308	c.237C>T	c.(235-237)caC>caT	p.H79H	CES3_ENST00000394037.1_Silent_p.H79H	NM_024922.5	NP_079198.2	Q6UWW8	EST3_HUMAN	carboxylesterase 3	79						endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	24		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0488)|Epithelial(162;0.127)		CAGCCCCACACCCAGCACAGC	0.642													6	70					0	0	1	0	0	T	66997236	C	T	66997236	2	4	81	1	0	0	0	0	0	0	0	1	3293	506	18	2		2	CES3	16	66997236	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	22997	66997236	23357517	11711	15327											
CES3	23491	broad.mit.edu	37	16	67005218	67005218	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:67005218T>C	ENST00000303334.4	+	10	1358	c.1287T>C	c.(1285-1287)ctT>ctC	p.L429L	CES3_ENST00000394037.1_Silent_p.L429L|CES3_ENST00000543856.1_Silent_p.L68L	NM_024922.5	NP_079198.2	Q6UWW8	EST3_HUMAN	carboxylesterase 3	429						endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	24		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0488)|Epithelial(162;0.127)		CAAGATACCTTCGAGGTAAGC	0.552													6	61					0	0	1	0	0	C	67005218	T	C	67005218	2	2	81	1	0	0	0	0	0	0	0	1	3293	1770	62	3		3	CES3	16	67005218	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	7982	67005218	23349535	11712	15328											
C16orf70	80262	broad.mit.edu	37	16	67154083	67154083	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:67154083C>A	ENST00000219139.3	+	2	321	c.133C>A	c.(133-135)Ctc>Atc	p.L45I	C16orf70_ENST00000569683.1_3'UTR|C16orf70_ENST00000569600.1_Missense_Mutation_p.L45I	NM_025187.3	NP_079463.2	Q9BSU1	CP070_HUMAN	chromosome 16 open reading frame 70	45										cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|skin(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0017)|Epithelial(162;0.00655)|all cancers(182;0.0579)		CGTCCAGGTTCTCTACAGTGA	0.463													45	49					1.35964e-18	1.76607e-18	1	1	0	A	67154083	C	A	67154083	3	1	81	1	0	0	0	0	1	0	0	0	1836	913	32	4	139	4	C16orf70	16	67154083	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	148865	67154083	23200670	11713	15329											
HSF4	3299	broad.mit.edu	37	16	67201093	67201093	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:67201093G>A	ENST00000264009.8	+	9	1662	c.697G>A	c.(697-699)Gcc>Acc	p.A233T	HSF4_ENST00000584272.1_Missense_Mutation_p.A233T|HSF4_ENST00000521374.1_Missense_Mutation_p.A233T|HSF4_ENST00000517867.1_3'UTR|HSF4_ENST00000421453.1_Missense_Mutation_p.A233T	NM_001040667.2	NP_001035757.1	Q9ULV5	HSF4_HUMAN	heat shock transcription factor 4	233					response to stress	nucleus	sequence-specific DNA binding transcription factor activity|transcription corepressor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	12		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184)		TCTACCTGGTGCCCTTCTGCA	0.597													27	39					0	0	1	0	0	A	67201093	G	A	67201093	3	1	81	1	0	0	0	0	1	0	0	0	7439	1319	46	2	723	2	HSF4	16	67201093	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	47010	67201093	23153660	11714	15330											
FHOD1	29109	broad.mit.edu	37	16	67264291	67264291	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:67264291G>A	ENST00000258201.4	-	19	3224	c.2977C>T	c.(2977-2979)Cga>Tga	p.R993*		NM_013241.2	NP_037373.2	Q9Y613	FHOD1_HUMAN	formin homology 2 domain containing 1	993	FH2.				actin cytoskeleton organization	cytoplasm|cytoskeleton|nucleus	actin binding	p.R993R(1)		breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	34		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)		TGTAGCACTCGTTCCCGGCAA	0.612													22	31					0	0	1	0	0	A	67264291	G	A	67264291	4	1	81	1	0	0	0	0	0	1	0	0	5915	1153	40	1	533	1	FHOD1	16	67264291	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	63198	67264291	23090462	11715	15331											
FHOD1	29109	broad.mit.edu	37	16	67272032	67272032	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:67272032C>A	ENST00000258201.4	-	6	795		c.e6-1			NM_013241.2	NP_037373.2	Q9Y613	FHOD1_HUMAN	formin homology 2 domain containing 1						actin cytoskeleton organization	cytoplasm|cytoskeleton|nucleus	actin binding			breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	34		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)		TGGCCGAGCGCTGGGGAAACA	0.592													6	75					0.0215528	0.0221217	1	1	0	A	67272032	C	A	67272032	5	1	81	1	0	0	0	0	0	0	1	0	5915	811	28	4	3015	4	FHOD1	16	67272032	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	7741	67272032	23082721	11716	15332											
FHOD1	29109	broad.mit.edu	37	16	67272337	67272337	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:67272337G>A	ENST00000258201.4	-	4	634	c.387C>T	c.(385-387)agC>agT	p.S129S		NM_013241.2	NP_037373.2	Q9Y613	FHOD1_HUMAN	formin homology 2 domain containing 1	129	GBD/FH3.				actin cytoskeleton organization	cytoplasm|cytoskeleton|nucleus	actin binding			breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	34		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)		GACCACTGGAGCTATACAGCT	0.532													11	9					0	0	1	0	0	A	67272337	G	A	67272337	2	1	81	1	0	0	0	0	0	0	0	1	5915	962	34	2		2	FHOD1	16	67272337	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	305	67272337	23082416	11717	15333											
SLC9A5	6553	broad.mit.edu	37	16	67286472	67286472	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:67286472C>A	ENST00000299798.11	+	2	280	c.215C>A	c.(214-216)tCt>tAt	p.S72Y	SLC9A5_ENST00000561472.2_Intron	NM_004594.2	NP_004585.1	Q14940	SL9A5_HUMAN	solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5	72					regulation of pH	integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)		AAAGTAACATCTCTGGTCCCT	0.517													20	143					1.9806e-07	2.31852e-07	1	1	0	A	67286472	C	A	67286472	3	1	81	1	0	0	0	0	1	0	0	0	14772	913	32	4	221	4	SLC9A5	16	67286472	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	14135	67286472	23068281	11718	15334											
SLC9A5	6553	broad.mit.edu	37	16	67292254	67292254	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:67292254G>A	ENST00000299798.11	+	10	1595	c.1530G>A	c.(1528-1530)caG>caA	p.Q510Q		NM_004594.2	NP_004585.1	Q14940	SL9A5_HUMAN	solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5	510					regulation of pH	integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)		ACCTGAGTCAGCTGCTGATGC	0.587													17	33					0	0	1	0	0	A	67292254	G	A	67292254	2	1	81	1	0	0	0	0	0	0	0	1	14772	962	34	2		2	SLC9A5	16	67292254	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	5782	67292254	23062499	11719	15335											
SLC9A5	6553	broad.mit.edu	37	16	67305108	67305108	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:67305108C>A	ENST00000299798.11	+	16	2751	c.2686C>A	c.(2686-2688)Ctg>Atg	p.L896M		NM_004594.2	NP_004585.1	Q14940	SL9A5_HUMAN	solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5	896					regulation of pH	integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)		AGGCAGCCGGCTGTAGCTCAA	0.627													3	8					0.004672	0.00489345	1	1	0	A	67305108	C	A	67305108	3	1	81	1	0	0	0	0	1	0	0	0	14772	796	28	4	2748	4	SLC9A5	16	67305108	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	12854	67305108	23049645	11720	15336											
PLEKHG4	25894	broad.mit.edu	37	16	67314868	67314868	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:67314868G>T	ENST00000360461.5	+	3	3214	c.679G>T	c.(679-681)Gaa>Taa	p.E227*	PLEKHG4_ENST00000427155.2_Nonsense_Mutation_p.E227*|PLEKHG4_ENST00000450733.1_Nonsense_Mutation_p.E146*|PLEKHG4_ENST00000379344.3_Nonsense_Mutation_p.E227*	NM_001129727.1|NM_015432.3	NP_001123199.1|NP_056247.1	Q58EX7	PKHG4_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4	227					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119)		CAGCAGCCAGGAACTCATCCG	0.632													4	37					3.59834e-05	3.99423e-05	1	1	0	T	67314868	G	T	67314868	4	4	81	1	0	0	0	0	0	1	0	0	12119	1175	41	5	689	5	PLEKHG4	16	67314868	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	9760	67314868	23039885	11721	15337											
PLEKHG4	25894	broad.mit.edu	37	16	67318663	67318663	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:67318663G>A	ENST00000360461.5	+	12	4275	c.1740G>A	c.(1738-1740)gaG>gaA	p.E580E	PLEKHG4_ENST00000427155.2_Silent_p.E580E|PLEKHG4_ENST00000450733.1_Silent_p.E499E|PLEKHG4_ENST00000379344.3_Silent_p.E580E	NM_001129727.1|NM_015432.3	NP_001123199.1|NP_056247.1	Q58EX7	PKHG4_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4	580					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119)		CAGAGCTGGAGCAGGAACGCC	0.632													12	14					0	0	1	0	0	A	67318663	G	A	67318663	2	1	81	1	0	0	0	0	0	0	0	1	12119	962	34	2		2	PLEKHG4	16	67318663	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	3795	67318663	23036090	11722	15338											
PLEKHG4	25894	broad.mit.edu	37	16	67319222	67319222	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:67319222C>A	ENST00000360461.5	+	13	4760	c.2225C>A	c.(2224-2226)gCc>gAc	p.A742D	PLEKHG4_ENST00000427155.2_Missense_Mutation_p.A742D|PLEKHG4_ENST00000450733.1_Missense_Mutation_p.A661D|PLEKHG4_ENST00000379344.3_Missense_Mutation_p.A742D	NM_001129727.1|NM_015432.3	NP_001123199.1|NP_056247.1	Q58EX7	PKHG4_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4	742	DH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119)		GAGATGGTGGCCACGGAGCGG	0.622													4	51					0.00909568	0.00944708	1	1	0	A	67319222	C	A	67319222	3	1	81	1	0	0	0	0	1	0	0	0	12119	739	26	5	2275	5	PLEKHG4	16	67319222	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	559	67319222	23035531	11723	15339											
PLEKHG4	25894	broad.mit.edu	37	16	67322137	67322137	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:67322137G>A	ENST00000360461.5	+	19	5823	c.3288G>A	c.(3286-3288)tcG>tcA	p.S1096S	PLEKHG4_ENST00000427155.2_Silent_p.S1096S|PLEKHG4_ENST00000450733.1_Silent_p.S1015S|PLEKHG4_ENST00000379344.3_Silent_p.S1096S	NM_001129727.1|NM_015432.3	NP_001123199.1|NP_056247.1	Q58EX7	PKHG4_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4	1096					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119)		TGGGGGCCTCGAACTCCCTTC	0.607													15	112					0	0	1	0	0	A	67322137	G	A	67322137	2	1	81	1	0	0	0	0	0	0	0	1	12119	1045	37	1		1	PLEKHG4	16	67322137	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2915	67322137	23032616	11724	15340											
KCTD19	146212	broad.mit.edu	37	16	67325309	67325309	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:67325309C>T	ENST00000304372.5	-	14	2523	c.2468G>A	c.(2467-2469)tGt>tAt	p.C823Y		NM_001100915.1	NP_001094385.1	Q17RG1	KCD19_HUMAN	potassium channel tetramerization domain containing 19	823						voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)		GAAGCAGTGACATTTCTGTGC	0.507													12	33					0	0	1	0	0	T	67325309	C	T	67325309	3	4	81	1	0	0	0	0	1	0	0	0	8150	478	17	2	324	2	KCTD19	16	67325309	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3172	67325309	23029444	11725	15341											
LRRC36	55282	broad.mit.edu	37	16	67401011	67401011	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:67401011G>A	ENST00000329956.6	+	8	865	c.846G>A	c.(844-846)aaG>aaA	p.K282K	LRRC36_ENST00000541146.1_Intron|LRRC36_ENST00000563189.1_Silent_p.K161K|LRRC36_ENST00000435835.3_Silent_p.K161K|LRRC36_ENST00000290940.7_Silent_p.K14K	NM_018296.5	NP_060766.5	Q1X8D7	LRC36_HUMAN	leucine rich repeat containing 36	282										endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	24		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0669)|Epithelial(162;0.161)		TGGACAATAAGTCTTCAGGTT	0.433													56	72					0	0	1	0	0	A	67401011	G	A	67401011	2	1	81	1	0	0	0	0	0	0	0	1	9035	1020	36	2		2	LRRC36	16	67401011	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	75702	67401011	22953742	11726	15342											
FAM65A	79567	broad.mit.edu	37	16	67572650	67572650	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:67572650C>T	ENST00000540839.3	+	4	460	c.240C>T	c.(238-240)tcC>tcT	p.S80S	FAM65A_ENST00000566522.1_Intron|FAM65A_ENST00000422602.2_Silent_p.S80S|FAM65A_ENST00000042381.4_Silent_p.S60S|CTD-2012K14.2_ENST00000567122.1_RNA|FAM65A_ENST00000428437.2_Silent_p.S74S|FAM65A_ENST00000379312.3_Silent_p.S64S			Q6ZS17	FA65A_HUMAN	family with sequence similarity 65, member A	64						cytoplasm	binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)		GGATGTTTTCCGTGGCTCACC	0.677													4	91					0	0	1	0	0	T	67572650	C	T	67572650	2	4	81	1	0	0	0	0	0	0	0	1	5634	639	23	1		1	FAM65A	16	67572650	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	171639	67572650	22782103	11727	15343											
FAM65A	79567	broad.mit.edu	37	16	67578270	67578270	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:67578270C>T	ENST00000540839.3	+	16	2946	c.2726C>T	c.(2725-2727)aCg>aTg	p.T909M	FAM65A_ENST00000422602.2_Missense_Mutation_p.T910M|FAM65A_ENST00000042381.4_Missense_Mutation_p.T890M|FAM65A_ENST00000428437.2_Missense_Mutation_p.T904M|FAM65A_ENST00000379312.3_Missense_Mutation_p.T894M			Q6ZS17	FA65A_HUMAN	family with sequence similarity 65, member A	894						cytoplasm	binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)		CCCCTCAGCACGGGGTGTCCA	0.642													31	90					0	0	1	0	0	T	67578270	C	T	67578270	3	4	81	1	0	0	0	0	1	0	0	0	5634	536	19	1	2723	1	FAM65A	16	67578270	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	5620	67578270	22776483	11728	15344											
FAM65A	79567	broad.mit.edu	37	16	67579727	67579727	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:67579727C>T	ENST00000540839.3	+	20	3628	c.3408C>T	c.(3406-3408)ctC>ctT	p.L1136L	FAM65A_ENST00000422602.2_Silent_p.L1137L|FAM65A_ENST00000042381.4_Silent_p.L1117L|FAM65A_ENST00000428437.2_Silent_p.L1131L|FAM65A_ENST00000379312.3_Silent_p.L1121L			Q6ZS17	FA65A_HUMAN	family with sequence similarity 65, member A	1121						cytoplasm	binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)		GCACCCAGCTCCGGAGCCTGT	0.672													22	16					0	0	1	0	0	T	67579727	C	T	67579727	2	4	81	1	0	0	0	0	0	0	0	1	5634	842	30	2		2	FAM65A	16	67579727	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1457	67579727	22775026	11729	15345											
RLTPR	146206	broad.mit.edu	37	16	67682846	67682846	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:67682846C>T	ENST00000334583.6	+	17	1888	c.1560C>T	c.(1558-1560)ggC>ggT	p.G520G	RLTPR_ENST00000545661.1_Silent_p.G484G	NM_001013838.1	NP_001013860.1	Q6F5E8	LR16C_HUMAN	RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing	520										breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		GCGACGCAGGCGCTGTGAGCT	0.627													8	7					0	0	1	0	0	T	67682846	C	T	67682846	2	4	81	1	0	0	0	0	0	0	0	1	13446	755	27	1		1	RLTPR	16	67682846	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	103119	67682846	22671907	11730	15346											
RLTPR	146206	broad.mit.edu	37	16	67690161	67690161	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:67690161C>A	ENST00000334583.6	+	34	4101	c.3773C>A	c.(3772-3774)cCt>cAt	p.P1258H	RLTPR_ENST00000545661.1_Missense_Mutation_p.P1222H	NM_001013838.1	NP_001013860.1	Q6F5E8	LR16C_HUMAN	RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing	1258										breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		ACGGAGGCCCCTCCCATCTCG	0.602													9	94					0.000442599	0.000477972	1	1	0	A	67690161	C	A	67690161	3	1	81	1	0	0	0	0	1	0	0	0	13446	681	24	4	3907	4	RLTPR	16	67690161	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	7315	67690161	22664592	11731	15347											
ACD	65057	broad.mit.edu	37	16	67691948	67691948	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:67691948G>A	ENST00000219251.8	-	10	1727	c.1396C>T	c.(1396-1398)Cgg>Tgg	p.R466W	ACD_ENST00000393919.4_Missense_Mutation_p.R469W	NM_001082486.1|NM_001082487.1|NM_022914.2	NP_001075955.1|NP_001075956.1|NP_075065.2	Q96AP0	ACD_HUMAN	adrenocortical dysplasia homolog (mouse)	469					intracellular protein transport|negative regulation of telomere maintenance via telomerase|positive regulation of single-stranded telomeric DNA binding|positive regulation of telomerase activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|telomere assembly	nuclear telomere cap complex|nucleoplasm	DNA binding|DNA polymerase binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	17		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)		AAAGGCGGCCGATTCTTGCAG	0.607													34	29					0	0	1	0	0	A	67691948	G	A	67691948	3	1	81	1	0	0	0	0	1	0	0	0	135	1057	37	1	241	1	ACD	16	67691948	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1787	67691948	22662805	11732	15348											
ACD	65057	broad.mit.edu	37	16	67692112	67692112	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:67692112G>T	ENST00000219251.8	-	10	1563	c.1232C>A	c.(1231-1233)cCc>cAc	p.P411H	ACD_ENST00000393919.4_Missense_Mutation_p.P414H	NM_001082486.1|NM_001082487.1|NM_022914.2	NP_001075955.1|NP_001075956.1|NP_075065.2	Q96AP0	ACD_HUMAN	adrenocortical dysplasia homolog (mouse)	414	Ser-rich.				intracellular protein transport|negative regulation of telomere maintenance via telomerase|positive regulation of single-stranded telomeric DNA binding|positive regulation of telomerase activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|telomere assembly	nuclear telomere cap complex|nucleoplasm	DNA binding|DNA polymerase binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	17		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)		TGGGGACCTGGGGGTCAGGGT	0.667													34	39					1.69901e-12	2.12611e-12	1	1	0	T	67692112	G	T	67692112	3	4	81	1	0	0	0	0	1	0	0	0	135	1232	43	5	405	5	ACD	16	67692112	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	164	67692112	22662641	11733	15349											
PARD6A	50855	broad.mit.edu	37	16	67696030	67696030	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:67696030G>A	ENST00000458121.2	+	3	609	c.518G>A	c.(517-519)cGa>cAa	p.R173Q	PARD6A_ENST00000602551.1_Missense_Mutation_p.R144Q|PARD6A_ENST00000219255.3_Missense_Mutation_p.R174Q	NM_001037281.1|NM_016948.2	NP_001032358.1|NP_058644.1	Q9NPB6	PAR6A_HUMAN	par-6 family cell polarity regulator alpha	174	Interaction with PARD3 and CDC42 (By similarity).|PDZ.				cell cycle|cell division|cell-cell junction maintenance|tight junction assembly|viral reproduction	cytosol|nucleus|ruffle|tight junction	GTP-dependent protein binding|Rho GTPase binding|transcription factor binding			central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2)	6		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)		TTCTACATCCGAGATGGCATG	0.627													28	52					0	0	1	0	0	A	67696030	G	A	67696030	3	1	81	1	0	0	0	0	1	0	0	0	11492	1058	37	1	531	1	PARD6A	16	67696030	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	3918	67696030	22658723	11734	15350											
RANBP10	57610	broad.mit.edu	37	16	67805960	67805960	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:67805960C>T	ENST00000317506.3	-	3	492	c.377G>A	c.(376-378)gGc>gAc	p.G126D	RANBP10_ENST00000425512.2_Intron|RANBP10_ENST00000536251.1_5'UTR|RANBP10_ENST00000602887.1_5'UTR|RANBP10_ENST00000602677.1_Missense_Mutation_p.G126D|RANBP10_ENST00000448631.2_Missense_Mutation_p.G126D|RANBP10_ENST00000411657.2_Missense_Mutation_p.G9D	NM_020850.1	NP_065901.1	Q6VN20	RBP10_HUMAN	RAN binding protein 10	126	B30.2/SPRY.									endometrium(5)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23		Acute lymphoblastic leukemia(13;4.34e-06)|all_hematologic(13;0.000643)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00522)|Epithelial(162;0.025)|all cancers(182;0.157)		CATGTTGACGCCTTGAGCCGA	0.408													13	116					0	0	1	0	0	T	67805960	C	T	67805960	3	4	81	1	0	0	0	0	1	0	0	0	13078	739	26	2	1533	2	RANBP10	16	67805960	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	109930	67805960	22548793	11735	15351											
TSNAXIP1	55815	broad.mit.edu	37	16	67858679	67858679	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:67858679C>T	ENST00000388833.3	+	6	890	c.513C>T	c.(511-513)agC>agT	p.S171S	TSNAXIP1_ENST00000562321.1_Intron|TSNAXIP1_ENST00000561639.1_Silent_p.S225S|TSNAXIP1_ENST00000415766.3_Silent_p.S156S	NM_018430.2	NP_060900.2	Q2TAA8	TXIP1_HUMAN	translin-associated factor X interacting protein 1	171					cell differentiation|multicellular organismal development|spermatogenesis	perinuclear region of cytoplasm				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|prostate(1)|soft_tissue(1)|urinary_tract(1)	22		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00432)|Epithelial(162;0.0192)|all cancers(182;0.125)		CATTGCAGAGCGAGGTGAATG	0.478													10	14					0	0	1	0	0	T	67858679	C	T	67858679	2	4	81	1	0	0	0	0	0	0	0	1	16693	767	27	1		1	TSNAXIP1	16	67858679	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	52719	67858679	22496074	11736	15352											
TSNAXIP1	55815	broad.mit.edu	37	16	67860697	67860697	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:67860697T>G	ENST00000388833.3	+	12	1719	c.1342T>G	c.(1342-1344)Ttc>Gtc	p.F448V	TSNAXIP1_ENST00000561639.1_Missense_Mutation_p.F502V|TSNAXIP1_ENST00000415766.3_Missense_Mutation_p.F433V	NM_018430.2	NP_060900.2	Q2TAA8	TXIP1_HUMAN	translin-associated factor X interacting protein 1	448					cell differentiation|multicellular organismal development|spermatogenesis	perinuclear region of cytoplasm				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|prostate(1)|soft_tissue(1)|urinary_tract(1)	22		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00432)|Epithelial(162;0.0192)|all cancers(182;0.125)		TATCAAGATCTTCCACTCCAA	0.488													12	165					0	0	1	0	0	G	67860697	T	G	67860697	3	3	81	1	0	0	0	0	1	0	0	0	16693	1609	56	5	1380	5	TSNAXIP1	16	67860697	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	2018	67860697	22494056	11737	15353											
EDC4	23644	broad.mit.edu	37	16	67914878	67914878	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:67914878G>A	ENST00000358933.5	+	18	2755	c.2516G>A	c.(2515-2517)aGc>aAc	p.S839N		NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN	enhancer of mRNA decapping 4	839					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		GAGACCTGCAGCACCCTGGCA	0.582													32	52					0	0	1	0	0	A	67914878	G	A	67914878	3	1	81	1	0	0	0	0	1	0	0	0	4934	971	34	2	2586	2	EDC4	16	67914878	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	54181	67914878	22439875	11738	15354											
PSKH1	5681	broad.mit.edu	37	16	67943504	67943504	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:67943504C>T	ENST00000291041.5	+	2	1022	c.852C>T	c.(850-852)ggC>ggT	p.G284G		NM_006742.2	NP_006733.1	P11801	KPSH1_HUMAN	protein serine kinase H1	284	Protein kinase.					endoplasmic reticulum membrane|Golgi apparatus|microtubule organizing center|nuclear speck|plasma membrane	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(2)|large_intestine(1)|lung(7)|pancreas(1)	12		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0044)|Epithelial(162;0.0197)|all cancers(182;0.128)		GGGCGCTGGGCGTCATTGCCT	0.567													26	24					0	0	1	0	0	T	67943504	C	T	67943504	2	4	81	1	0	0	0	0	0	0	0	1	12713	755	27	1		1	PSKH1	16	67943504	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	28626	67943504	22411249	11739	15355											
CTRL	1506	broad.mit.edu	37	16	67964672	67964672	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:67964672C>T	ENST00000574481.1	-	4	836	c.275G>A	c.(274-276)cGa>cAa	p.R92Q	CTRL_ENST00000576408.1_5'UTR	NM_001907.2	NP_001898.1	P40313	CTRL_HUMAN	chymotrypsin-like	92	Peptidase S1.				digestion|proteolysis	extracellular space	serine-type endopeptidase activity	p.S93fs*20(1)		kidney(1)|large_intestine(2)|urinary_tract(1)	4		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00412)|Epithelial(162;0.018)|all cancers(182;0.118)		GTTTGATGATCGGTCATACTC	0.642													19	27					0	0	1	0	0	T	67964672	C	T	67964672	3	4	81	1	0	0	0	0	1	0	0	0	4052	884	31	1	535	1	CTRL	16	67964672	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	21168	67964672	22390081	11740	15356											
SLC12A4	6560	broad.mit.edu	37	16	67980444	67980444	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:67980444G>T	ENST00000422611.2	-	17	2379	c.2340C>A	c.(2338-2340)atC>atA	p.I780I	SLC12A4_ENST00000338335.3_Intron|SLC12A4_ENST00000572037.1_Silent_p.I730I|SLC12A4_ENST00000541864.2_Silent_p.I747I|SLC12A4_ENST00000576616.1_Silent_p.I778I|SLC12A4_ENST00000316341.3_Silent_p.I778I|SLC12A4_ENST00000537830.2_Silent_p.I772I	NM_001145962.1	NP_001139434.1	Q9UP95	S12A4_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 4	778					cell volume homeostasis|potassium ion transport|sodium ion transport	integral to plasma membrane|membrane fraction	potassium:chloride symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3)	29		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	CACAGGACTGGATGAGGTGGG	0.632													16	69					9.16793e-09	1.09544e-08	1	1	0	T	67980444	G	T	67980444	2	4	81	1	0	0	0	0	0	0	0	1	14440	1164	41	5		5	SLC12A4	16	67980444	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	15772	67980444	22374309	11741	15357											
SLC12A4	6560	broad.mit.edu	37	16	67983747	67983747	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:67983747G>A	ENST00000422611.2	-	12	1749	c.1710C>T	c.(1708-1710)ggC>ggT	p.G570G	SLC12A4_ENST00000338335.3_Silent_p.G568G|SLC12A4_ENST00000572037.1_Silent_p.G520G|SLC12A4_ENST00000541864.2_Silent_p.G537G|SLC12A4_ENST00000576616.1_Silent_p.G568G|SLC12A4_ENST00000316341.3_Silent_p.G568G|SLC12A4_ENST00000537830.2_Silent_p.G562G	NM_001145962.1	NP_001139434.1	Q9UP95	S12A4_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 4	568					cell volume homeostasis|potassium ion transport|sodium ion transport	integral to plasma membrane|membrane fraction	potassium:chloride symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3)	29		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	CGATGAGGATGCCCAGCTCGG	0.632													4	20					0	0	1	0	0	A	67983747	G	A	67983747	2	1	81	1	0	0	0	0	0	0	0	1	14440	1306	46	2		2	SLC12A4	16	67983747	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	3303	67983747	22371006	11742	15358											
SLC12A4	6560	broad.mit.edu	37	16	67991894	67991894	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:67991894G>T	ENST00000422611.2	-	3	441	c.402C>A	c.(400-402)atC>atA	p.I134I	SLC12A4_ENST00000338335.3_Silent_p.I132I|SLC12A4_ENST00000572037.1_Silent_p.I84I|SLC12A4_ENST00000541864.2_Silent_p.I101I|SLC12A4_ENST00000576616.1_Silent_p.I132I|SLC12A4_ENST00000316341.3_Silent_p.I132I|SLC12A4_ENST00000537830.2_Silent_p.I126I|SLC12A4_ENST00000572010.1_5'UTR	NM_001145962.1	NP_001139434.1	Q9UP95	S12A4_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 4	132					cell volume homeostasis|potassium ion transport|sodium ion transport	integral to plasma membrane|membrane fraction	potassium:chloride symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3)	29		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	TAACCCCAAAGATATTCTGCA	0.587													19	36					1.42536e-11	1.7684e-11	1	1	0	T	67991894	G	T	67991894	2	4	81	1	0	0	0	0	0	0	0	1	14440	932	33	4		4	SLC12A4	16	67991894	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	8147	67991894	22362859	11743	15359											
DPEP3	64180	broad.mit.edu	37	16	68011861	68011861	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:68011861C>T	ENST00000268793.4	-	5	1184	c.811G>A	c.(811-813)Gga>Aga	p.G271R		NM_001129758.1|NM_022357.3	NP_001123230.1|NP_071752.3	Q9H4B8	DPEP3_HUMAN	dipeptidase 3	246					meiosis	anchored to membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity			breast(4)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)	20		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0117)|Epithelial(162;0.0481)|all cancers(182;0.236)		CTTGTCAATCCGCTGACGTTG	0.542													6	49					0	0	1	0	0	T	68011861	C	T	68011861	3	4	81	1	0	0	0	0	1	0	0	0	4742	661	23	1	754	1	DPEP3	16	68011861	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	19967	68011861	22342892	11744	15360											
NFATC3	4775	broad.mit.edu	37	16	68156145	68156145	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:68156145G>A	ENST00000349223.5	+	2	583	c.359G>A	c.(358-360)tGt>tAt	p.C120Y	NFATC3_ENST00000346183.3_Missense_Mutation_p.C120Y|NFATC3_ENST00000329524.4_Missense_Mutation_p.C120Y|RP11-67A1.2_ENST00000548144.1_RNA|NFATC3_ENST00000535127.2_3'UTR|NFATC3_ENST00000575270.1_Missense_Mutation_p.C120Y	NM_173163.2	NP_775186.1	Q12968	NFAC3_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3	120					inflammatory response|transcription from RNA polymerase II promoter	nucleolus|plasma membrane	DNA binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	44		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24)		TCTCCTAACTGTCATCAAGAA	0.398													35	67					0	0	1	0	0	A	68156145	G	A	68156145	3	1	81	1	0	0	0	0	1	0	0	0	10411	1377	48	2	365	2	NFATC3	16	68156145	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	144284	68156145	22198608	11745	15361											
NFATC3	4775	broad.mit.edu	37	16	68225673	68225673	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:68225673A>G	ENST00000349223.5	+	9	3325	c.3101A>G	c.(3100-3102)gAt>gGt	p.D1034G	NFATC3_ENST00000346183.3_Missense_Mutation_p.D1034G|NFATC3_ENST00000329524.4_Missense_Mutation_p.D1034G|NFATC3_ENST00000535127.2_3'UTR|NFATC3_ENST00000575270.1_Missense_Mutation_p.D1034G	NM_173163.2	NP_775186.1	Q12968	NFAC3_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3	1034					inflammatory response|transcription from RNA polymerase II promoter	nucleolus|plasma membrane	DNA binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	44		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24)		ATCACTTTAGATGATGGTAAG	0.418													15	154					0	0	1	0	0	G	68225673	A	G	68225673	3	3	81	1	0	0	0	0	1	0	0	0	10411	333	12	3	3135	3	NFATC3	16	68225673	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	69528	68225673	22129080	11746	15362											
ESRP2	80004	broad.mit.edu	37	16	68266665	68266665	+	Splice_Site	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:68266665A>G	ENST00000473183.2	-	6	1247	c.709T>C	c.(709-711)Tgc>Cgc	p.C237R	ESRP2_ENST00000565858.1_Splice_Site_p.C237R			Q9H6T0	ESRP2_HUMAN	epithelial splicing regulatory protein 2	237					mRNA processing|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding|nucleotide binding			NS(1)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)	16						CACACTCACCAAGGCCCCGTC	0.577													43	96					0	0	1	0	0	G	68266665	A	G	68266665	5	3	81	1	0	0	0	0	0	0	1	0	5287	144	5	3	1484	3	ESRP2	16	68266665	Splice_Site	SNP	A	TCGA-DU-6392-01A-11D-1705-08	40992	68266665	22088088	11747	15363											
PLA2G15	23659	broad.mit.edu	37	16	68293208	68293208	+	Missense_Mutation	SNP	G	G	A	rs138261353		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:68293208G>A	ENST00000219345.5	+	6	970	c.887G>A	c.(886-888)cGc>cAc	p.R296H	RP11-96D1.7_ENST00000563175.1_RNA|PLA2G15_ENST00000444212.2_Missense_Mutation_p.R96H|PLA2G15_ENST00000413021.2_Missense_Mutation_p.R202H|PLA2G15_ENST00000566188.1_3'UTR	NM_012320.3	NP_036452.1	Q8NCC3	PAG15_HUMAN	phospholipase A2, group XV	296					fatty acid catabolic process	extracellular region|lysosome	lysophospholipase activity|phosphatidylcholine-sterol O-acyltransferase activity|phospholipid binding			kidney(2)|large_intestine(2)|lung(2)|ovary(2)|prostate(3)|skin(1)	12						CGGGACTACCGCAAGTTCTTC	0.582													30	29					0	0	1	0	0	A	68293208	G	A	68293208	3	1	81	1	0	0	0	0	1	0	0	0	12040	1087	38	1	909	1	PLA2G15	16	68293208	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	26543	68293208	22061545	11748	15364											
PRMT7	54496	broad.mit.edu	37	16	68379675	68379675	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:68379675A>G	ENST00000339507.5	+	10	1855	c.1025A>G	c.(1024-1026)tAc>tGc	p.Y342C	PRMT7_ENST00000348497.4_Missense_Mutation_p.Y268C|PRMT7_ENST00000449359.3_Missense_Mutation_p.Y292C|PRMT7_ENST00000441236.1_Missense_Mutation_p.Y292C			Q9NVM4	ANM7_HUMAN	protein arginine methyltransferase 7	342					cell differentiation|DNA methylation involved in gamete generation|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|spliceosomal snRNP assembly|transcription, DNA-dependent	cytosol|nucleus	[myelin basic protein]-arginine N-methyltransferase activity|histone methyltransferase activity (H4-R3 specific)|protein-arginine omega-N monomethyltransferase activity|protein-arginine omega-N symmetric methyltransferase activity|ribonucleoprotein binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(10)|pancreas(1)|urinary_tract(1)	20		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0155)|Epithelial(162;0.0629)		CACGATGACTACTGCGTATGG	0.567													5	115					0	0	1	0	0	G	68379675	A	G	68379675	3	3	81	1	0	0	0	0	1	0	0	0	12593	391	14	3	1055	3	PRMT7	16	68379675	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	86467	68379675	21975078	11749	15365											
SMPD3	55512	broad.mit.edu	37	16	68405102	68405102	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:68405102G>A	ENST00000219334.5	-	3	1586	c.983C>T	c.(982-984)tCg>tTg	p.S328L	SMPD3_ENST00000568373.1_Missense_Mutation_p.S328L|SMPD3_ENST00000563226.1_Missense_Mutation_p.S328L	NM_018667.3	NP_061137.1	Q9NY59	NSMA2_HUMAN	sphingomyelin phosphodiesterase 3, neutral membrane (neutral sphingomyelinase II)	328					cell cycle|multicellular organismal development|sphingomyelin catabolic process	Golgi membrane|integral to membrane|plasma membrane	metal ion binding|sphingomyelin phosphodiesterase activity			breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0184)|Epithelial(162;0.0785)	Phosphatidylserine(DB00144)	CTTCACCACCGAGGCCTTGTA	0.682													12	19					0	0	1	0	0	A	68405102	G	A	68405102	3	1	81	1	0	0	0	0	1	0	0	0	14860	1059	37	1	1012	1	SMPD3	16	68405102	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	25427	68405102	21949651	11750	15366											
CDH3	1001	broad.mit.edu	37	16	68725634	68725634	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:68725634G>A	ENST00000264012.4	+	13	2351	c.1807G>A	c.(1807-1809)Gtc>Atc	p.V603I	CDH3_ENST00000581171.1_Missense_Mutation_p.V548I|CDH3_ENST00000429102.2_Missense_Mutation_p.V603I	NM_001793.4	NP_001784.2	P22223	CADH3_HUMAN	cadherin 3, type 1, P-cadherin (placental)	603	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion|response to stimulus|visual perception	integral to membrane	calcium ion binding	p.?(2)		NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(3)|skin(1)|urinary_tract(1)	25		Ovarian(137;0.0564)		OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384)		TGACACAGTGGTCTTGTCCCT	0.498													30	37					0	0	1	0	0	A	68725634	G	A	68725634	3	1	81	1	0	0	0	0	1	0	0	0	3133	1261	44	2	1857	2	CDH3	16	68725634	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	320532	68725634	21629119	11751	15367											
CDH1	999	broad.mit.edu	37	16	68844204	68844204	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:68844204G>T	ENST00000261769.5	+	6	983	c.792G>T	c.(790-792)caG>caT	p.Q264H	CDH1_ENST00000562836.1_3'UTR|CDH1_ENST00000422392.2_Missense_Mutation_p.Q264H	NM_004360.3	NP_004351.1	P12830	CADH1_HUMAN	cadherin 1, type 1, E-cadherin (epithelial)	264	Cadherin 2.				adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|positive regulation of transcription, DNA-dependent|regulation of immune response	actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|endosome|focal adhesion|Golgi apparatus|integral to membrane|internal side of plasma membrane|lateral plasma membrane|perinuclear region of cytoplasm	cell adhesion molecule binding|gamma-catenin binding	p.T263fs*3(6)|p.?(4)|p.F262_E265>L(1)		NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	311		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		AATTCACCCAGGAGGTCTTTA	0.463			"Mis, N, F, S"		"lobular breast, gastric"	gastric			Hereditary Diffuse Gastric Cancer				37	93					2.54651e-27	3.38116e-27	1	1	0	T	68844204	G	T	68844204	3	4	81	1	0	0	0	0	1	0	0	0	3117	991	35	4	814	4	CDH1	16	68844204	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	118570	68844204	21510549	11752	15368											
CDH1	999	broad.mit.edu	37	16	68847221	68847221	+	Missense_Mutation	SNP	G	G	T	rs143727462	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:68847221G>T	ENST00000261769.5	+	9	1334	c.1143G>T	c.(1141-1143)aaG>aaT	p.K381N	CDH1_ENST00000562836.1_3'UTR|CDH1_ENST00000422392.2_Intron	NM_004360.3	NP_004351.1	P12830	CADH1_HUMAN	cadherin 1, type 1, E-cadherin (epithelial)	381	Cadherin 3.				adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|positive regulation of transcription, DNA-dependent|regulation of immune response	actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|endosome|focal adhesion|Golgi apparatus|integral to membrane|internal side of plasma membrane|lateral plasma membrane|perinuclear region of cytoplasm	cell adhesion molecule binding|gamma-catenin binding	p.Y380_K440del(2)|p.?(1)		NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	311		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		TGCAGTACAAGGGTCAGGTGC	0.493			"Mis, N, F, S"		"lobular breast, gastric"	gastric			Hereditary Diffuse Gastric Cancer				37	46					1.57351e-24	2.07769e-24	1	1	0	T	68847221	G	T	68847221	3	4	81	1	0	0	0	0	1	0	0	0	3117	991	35	4	1177	4	CDH1	16	68847221	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	3017	68847221	21507532	11753	15369											
CDH1	999	broad.mit.edu	37	16	68847244	68847244	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:68847244C>T	ENST00000261769.5	+	9	1357	c.1166C>T	c.(1165-1167)gCt>gTt	p.A389V	CDH1_ENST00000562836.1_3'UTR|CDH1_ENST00000422392.2_Intron	NM_004360.3	NP_004351.1	P12830	CADH1_HUMAN	cadherin 1, type 1, E-cadherin (epithelial)	389	Cadherin 3.				adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|positive regulation of transcription, DNA-dependent|regulation of immune response	actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|endosome|focal adhesion|Golgi apparatus|integral to membrane|internal side of plasma membrane|lateral plasma membrane|perinuclear region of cytoplasm	cell adhesion molecule binding|gamma-catenin binding	p.Y380_K440del(2)|p.?(1)		NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	311		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		GAGAACGAGGCTAACGTCGTA	0.493			"Mis, N, F, S"		"lobular breast, gastric"	gastric			Hereditary Diffuse Gastric Cancer				35	71					0	0	1	0	0	T	68847244	C	T	68847244	3	4	81	1	0	0	0	0	1	0	0	0	3117	797	28	2	1200	2	CDH1	16	68847244	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	23	68847244	21507509	11754	15370											
CDH1	999	broad.mit.edu	37	16	68847374	68847374	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:68847374C>T	ENST00000261769.5	+	9	1487	c.1296C>T	c.(1294-1296)aaC>aaT	p.N432N	CDH1_ENST00000562836.1_3'UTR|CDH1_ENST00000422392.2_Intron	NM_004360.3	NP_004351.1	P12830	CADH1_HUMAN	cadherin 1, type 1, E-cadherin (epithelial)	432	Cadherin 3.				adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|positive regulation of transcription, DNA-dependent|regulation of immune response	actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|endosome|focal adhesion|Golgi apparatus|integral to membrane|internal side of plasma membrane|lateral plasma membrane|perinuclear region of cytoplasm	cell adhesion molecule binding|gamma-catenin binding	p.Y380_K440del(2)|p.?(1)		NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	311		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		CAGTGAACAACGATGGCATTT	0.473			"Mis, N, F, S"		"lobular breast, gastric"	gastric			Hereditary Diffuse Gastric Cancer				9	251					0	0	1	0	0	T	68847374	C	T	68847374	2	4	81	1	0	0	0	0	0	0	0	1	3117	535	19	1		1	CDH1	16	68847374	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	130	68847374	21507379	11755	15371											
HAS3	3038	broad.mit.edu	37	16	69143610	69143610	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:69143610C>T	ENST00000306560.1	+	2	468	c.312C>T	c.(310-312)tgC>tgT	p.C104C	HAS3_ENST00000569188.1_Silent_p.C104C|HAS3_ENST00000219322.3_Silent_p.C104C	NM_005329.2	NP_005320.2	O00219	HAS3_HUMAN	hyaluronan synthase 3	104					carbohydrate metabolic process	integral to plasma membrane	hyaluronan synthase activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|urinary_tract(2)	16		Ovarian(137;0.101)		OV - Ovarian serous cystadenocarcinoma(108;0.0694)		TGCGCAAGTGCCTGCGCTCGG	0.662													18	30					0	0	1	0	0	T	69143610	C	T	69143610	2	4	81	1	0	0	0	0	0	0	0	1	7004	747	26	2		2	HAS3	16	69143610	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	296236	69143610	21211143	11756	15372											
HAS3	3038	broad.mit.edu	37	16	69143877	69143877	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:69143877G>T	ENST00000306560.1	+	2	735	c.579G>T	c.(577-579)aaG>aaT	p.K193N	HAS3_ENST00000569188.1_Missense_Mutation_p.K193N|HAS3_ENST00000219322.3_Missense_Mutation_p.K193N	NM_005329.2	NP_005320.2	O00219	HAS3_HUMAN	hyaluronan synthase 3	193					carbohydrate metabolic process	integral to plasma membrane	hyaluronan synthase activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|urinary_tract(2)	16		Ovarian(137;0.101)		OV - Ovarian serous cystadenocarcinoma(108;0.0694)		GGGGAGGCAAGCGCGAGGTCA	0.627													4	31					0.00024832	0.000269806	1	1	0	T	69143877	G	T	69143877	3	4	81	1	0	0	0	0	1	0	0	0	7004	962	34	4	581	4	HAS3	16	69143877	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	267	69143877	21210876	11757	15373											
HAS3	3038	broad.mit.edu	37	16	69148496	69148496	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:69148496G>A	ENST00000306560.1	+	4	1145	c.989G>A	c.(988-990)cGa>cAa	p.R330Q	HAS3_ENST00000569188.1_Missense_Mutation_p.R330Q|HAS3_ENST00000219322.3_Intron	NM_005329.2	NP_005320.2	O00219	HAS3_HUMAN	hyaluronan synthase 3	330					carbohydrate metabolic process	integral to plasma membrane	hyaluronan synthase activity	p.R330Q(1)		cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|urinary_tract(2)	16		Ovarian(137;0.101)		OV - Ovarian serous cystadenocarcinoma(108;0.0694)		CTTGGCTACCGAACTAAGTAT	0.582													14	27					0	0	1	0	0	A	69148496	G	A	69148496	3	1	81	1	0	0	0	0	1	0	0	0	7004	1058	37	1	999	1	HAS3	16	69148496	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	4619	69148496	21206257	11758	15374											
CIRH1A	84916	broad.mit.edu	37	16	69184788	69184788	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:69184788G>A	ENST00000563094.1	+	8	1017	c.983G>A	c.(982-984)cGa>cAa	p.R328Q	CIRH1A_ENST00000352319.4_Missense_Mutation_p.R328Q|CIRH1A_ENST00000314423.7_Missense_Mutation_p.R328Q			Q969X6	CIR1A_HUMAN	cirrhosis, autosomal recessive 1A (cirhin)	328						nucleolus	protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1)	16				OV - Ovarian serous cystadenocarcinoma(108;0.125)		GCCGCTCTCCGAAAAATCACC	0.537													49	69					0	0	1	0	0	A	69184788	G	A	69184788	3	1	81	1	0	0	0	0	1	0	0	0	3456	1058	37	1	1009	1	CIRH1A	16	69184788	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	36292	69184788	21169965	11759	15375											
CIRH1A	84916	broad.mit.edu	37	16	69197042	69197043	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:69197042_69197043insA	ENST00000563094.1	+	14	1642_1643	c.1608_1609insA	c.(1609-1611)aatfs	p.N537fs	CIRH1A_ENST00000314423.7_Frame_Shift_Ins_p.N537fs|CIRH1A_ENST00000352319.4_Frame_Shift_Ins_p.N422fs			Q969X6	CIR1A_HUMAN	cirrhosis, autosomal recessive 1A (cirhin)	537						nucleolus	protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1)	16				OV - Ovarian serous cystadenocarcinoma(108;0.125)		CTATTGCCCCCAATACCAACAA	0.48													28	177	---	---	---	---						A	69197043	-	A	69197042	7	5	81	1	0	1	1	0	0	0	0	0	3456	581	21	0	1658	0	CIRH1A	16	69197042	Frame_Shift_Ins	INS	-	TCGA-DU-6392-01A-11D-1705-08	12254	69197042	21157711	11760	15376											
CIRH1A	84916	broad.mit.edu	37	16	69197064	69197064	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:69197064G>A	ENST00000563094.1	+	14	1664	c.1630G>A	c.(1630-1632)Gct>Act	p.A544T	CIRH1A_ENST00000352319.4_Missense_Mutation_p.A429T|CIRH1A_ENST00000314423.7_Missense_Mutation_p.A544T			Q969X6	CIR1A_HUMAN	cirrhosis, autosomal recessive 1A (cirhin)	544						nucleolus	protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1)	16				OV - Ovarian serous cystadenocarcinoma(108;0.125)		CCTTGTCATCGCTCATTCGGA	0.498													55	82					0	0	1	0	0	A	69197064	G	A	69197064	3	1	81	1	0	0	0	0	1	0	0	0	3456	1087	38	1	1680	1	CIRH1A	16	69197064	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	22	69197064	21157689	11761	15377											
SNTB2	6645	broad.mit.edu	37	16	69279555	69279555	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:69279555T>G	ENST00000336278.4	+	2	669	c.631T>G	c.(631-633)Tca>Gca	p.S211A	SNTB2_ENST00000528525.1_3'UTR	NM_006750.3	NP_006741.1	Q13425	SNTB2_HUMAN	syntrophin, beta 2 (dystrophin-associated protein A1, 59kDa, basic component 2)	211	PH 1.					cell junction|dystrophin-associated glycoprotein complex|membrane fraction|microtubule|transport vesicle membrane	actin binding|calmodulin binding|protein binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	13		Ovarian(137;0.101)		OV - Ovarian serous cystadenocarcinoma(108;0.208)		ATCATTAGTATCAGATCTGCC	0.438													8	212					0	0	1	0	0	G	69279555	T	G	69279555	3	3	81	1	0	0	0	0	1	0	0	0	14927	1435	50	4	637	4	SNTB2	16	69279555	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	82491	69279555	21075198	11762	15378											
VPS4A	27183	broad.mit.edu	37	16	69356569	69356569	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:69356569C>A	ENST00000254950.11	+	10	1334	c.1178C>A	c.(1177-1179)cCt>cAt	p.P393H	COG8_ENST00000564419.1_Intron	NM_013245.2	NP_037377.1	Q9UN37	VPS4A_HUMAN	vacuolar protein sorting 4 homolog A (S. cerevisiae)	393					cell cycle|cellular membrane organization|cytokinesis|endosome transport|protein transport	cytosol|late endosome membrane|midbody|perinuclear region of cytoplasm	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein domain specific binding			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(3)	7		Ovarian(137;0.101)				ATGGATGTCCCTGGGGACAAA	0.562													9	57					0.000442599	0.000477972	1	1	0	A	69356569	C	A	69356569	3	1	81	1	0	0	0	0	1	0	0	0	17272	681	24	4	1216	4	VPS4A	16	69356569	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	77014	69356569	20998184	11763	15379											
TERF2	7014	broad.mit.edu	37	16	69400902	69400902	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:69400902G>A	ENST00000254942.3	-	7	1164	c.1148C>T	c.(1147-1149)cCg>cTg	p.P383L	TERF2_ENST00000603068.1_Missense_Mutation_p.P341L	NM_005652.3	NP_005643.2	Q15554	TERF2_HUMAN	telomeric repeat binding factor 2	341					age-dependent telomere shortening|cell cycle|cellular senescence|negative regulation of telomere maintenance via semi-conservative replication|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|regulation of transcription, DNA-dependent|telomeric loop formation	Golgi apparatus|nuclear telomere cap complex|nucleoplasm	double-stranded telomeric DNA binding|protein C-terminus binding|protein homodimerization activity			NS(2)|breast(1)|large_intestine(3)|lung(1)	7		Ovarian(137;0.101)				ACCGTCAGCCGGGGCTGAACT	0.537													12	63					0	0	1	0	0	A	69400902	G	A	69400902	3	1	81	1	0	0	0	0	1	0	0	0	15821	1116	39	1	496	1	TERF2	16	69400902	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	44333	69400902	20953851	11764	15380											
NFAT5	10725	broad.mit.edu	37	16	69727997	69727997	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:69727997G>A	ENST00000349945.1	+	14	5539	c.3987G>A	c.(3985-3987)atG>atA	p.M1329I	NFAT5_ENST00000432919.1_Missense_Mutation_p.M1423I|NFAT5_ENST00000393742.2_Missense_Mutation_p.M1329I|NFAT5_ENST00000567239.1_Missense_Mutation_p.M1422I|NFAT5_ENST00000566899.1_Missense_Mutation_p.M1329I|NFAT5_ENST00000354436.2_Missense_Mutation_p.M1405I	NM_138714.3	NP_619728.2	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5, tonicity-responsive	1405					excretion|signal transduction|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						AGAACAACATGCCTGGAATTC	0.453													31	39					0	0	1	0	0	A	69727997	G	A	69727997	3	1	81	1	0	0	0	0	1	0	0	0	10407	1319	46	2	4319	2	NFAT5	16	69727997	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	327095	69727997	20626756	11765	15381											
NOB1	28987	broad.mit.edu	37	16	69786169	69786169	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:69786169G>T	ENST00000268802.5	-	3	331	c.302C>A	c.(301-303)tCt>tAt	p.S101Y		NM_014062.1	NP_054781.1	Q9ULX3	NOB1_HUMAN	NIN1/RPN12 binding protein 1 homolog (S. cerevisiae)	101	PINc.					nucleus	metal ion binding|protein binding			breast(2)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						TTTTAGGTGAGACACCCCAAC	0.433													34	121					2.20474e-14	2.79721e-14	1	1	0	T	69786169	G	T	69786169	3	4	81	1	0	0	0	0	1	0	0	0	10558	942	33	4	964	4	NOB1	16	69786169	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	58172	69786169	20568584	11766	15382											
PDPR	55066	broad.mit.edu	37	16	70177557	70177557	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:70177557C>T	ENST00000288050.4	+	14	2707	c.1750C>T	c.(1750-1752)Cgc>Tgc	p.R584C	PDPR_ENST00000398122.3_Missense_Mutation_p.R484C|PDPR_ENST00000568530.1_Missense_Mutation_p.R584C|PDPR_ENST00000562100.1_3'UTR	NM_017990.3	NP_060460.4	Q8NCN5	PDPR_HUMAN	pyruvate dehydrogenase phosphatase regulatory subunit	584					glycine catabolic process|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	aminomethyltransferase activity|oxidoreductase activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|skin(2)|stomach(3)	33				BRCA - Breast invasive adenocarcinoma(221;0.124)		ACTGAACAAGCGCAGGTGAGA	0.557													4	30					0	0	1	0	0	T	70177557	C	T	70177557	3	4	81	1	0	0	0	0	1	0	0	0	11736	768	27	1	1796	1	PDPR	16	70177557	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	391388	70177557	20177196	11767	15383											
PDPR	55066	broad.mit.edu	37	16	70180086	70180086	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:70180086C>A	ENST00000288050.4	+	16	2874	c.1917C>A	c.(1915-1917)tcC>tcA	p.S639S	PDPR_ENST00000398122.3_Silent_p.S539S|PDPR_ENST00000567046.1_5'UTR|PDPR_ENST00000568530.1_Silent_p.S639S|PDPR_ENST00000562100.1_3'UTR|PDPR_ENST00000542659.1_5'UTR	NM_017990.3	NP_060460.4	Q8NCN5	PDPR_HUMAN	pyruvate dehydrogenase phosphatase regulatory subunit	639					glycine catabolic process|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	aminomethyltransferase activity|oxidoreductase activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|skin(2)|stomach(3)	33				BRCA - Breast invasive adenocarcinoma(221;0.124)		CTGAGTTGTCCTATGCCCCTA	0.468													23	117					6.04164e-23	7.94791e-23	1	1	0	A	70180086	C	A	70180086	2	1	81	1	0	0	0	0	0	0	0	1	11736	668	24	4		4	PDPR	16	70180086	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2529	70180086	20174667	11768	15384											
PDPR	55066	broad.mit.edu	37	16	70187441	70187441	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:70187441G>T	ENST00000288050.4	+	18	3157	c.2200G>T	c.(2200-2202)Gaa>Taa	p.E734*	PDPR_ENST00000398122.3_Nonsense_Mutation_p.E634*|PDPR_ENST00000567046.1_Nonsense_Mutation_p.E92*|PDPR_ENST00000568530.1_Nonsense_Mutation_p.E734*|PDPR_ENST00000562100.1_Intron|PDPR_ENST00000542659.1_Nonsense_Mutation_p.E79*	NM_017990.3	NP_060460.4	Q8NCN5	PDPR_HUMAN	pyruvate dehydrogenase phosphatase regulatory subunit	734					glycine catabolic process|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	aminomethyltransferase activity|oxidoreductase activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|skin(2)|stomach(3)	33				BRCA - Breast invasive adenocarcinoma(221;0.124)		CACGCCCCTGGAATGTGGACG	0.488													6	18					0.00116845	0.00124301	1	1	0	T	70187441	G	T	70187441	4	4	81	1	0	0	0	0	0	1	0	0	11736	1175	41	5	2262	5	PDPR	16	70187441	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	7355	70187441	20167312	11769	15385											
AARS	16	broad.mit.edu	37	16	70292106	70292106	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:70292106C>A	ENST00000261772.8	-	15	2150	c.2007G>T	c.(2005-2007)caG>caT	p.Q669H	AARS_ENST00000564359.1_Intron	NM_001605.2	NP_001596.2	P49588	SYAC_HUMAN	alanyl-tRNA synthetase	669					alanyl-tRNA aminoacylation|tRNA processing	cytosol|soluble fraction	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding			breast(3)|cervix(2)|endometrium(5)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0365)		BRCA - Breast invasive adenocarcinoma(221;0.161)	L-Alanine(DB00160)	GGGGGCAATCCTGGGTATAGA	0.597													6	2					0.217242	0.218703	1	1	0	A	70292106	C	A	70292106	3	1	81	1	0	0	0	0	1	0	0	0	19	680	24	4	927	4	AARS	16	70292106	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	104665	70292106	20062647	11770	15386											
DDX19B	11269	broad.mit.edu	37	16	70349948	70349948	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:70349948C>T	ENST00000288071.6	+	4	482	c.237C>T	c.(235-237)gtC>gtT	p.V79V	DDX19B_ENST00000451014.3_Silent_p.V84V|DDX19B_ENST00000393657.2_5'UTR|DDX19B_ENST00000355992.3_Silent_p.V79V|DDX19B_ENST00000563392.1_5'UTR|RP11-529K1.2_ENST00000562077.1_RNA|RP11-529K1.3_ENST00000567706.1_Silent_p.V79V|DDX19B_ENST00000570055.1_3'UTR|DDX19B_ENST00000563206.1_Silent_p.V84V|DDX19B_ENST00000568625.1_5'UTR	NM_007242.5	NP_009173.1	Q9UMR2	DD19B_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 19B	79					mRNA export from nucleus|protein transport|transmembrane transport	cytoplasm|nuclear membrane|nuclear pore	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|prostate(1)	9		Ovarian(137;0.0694)				AAGTGGAAGTCCTGCAGCGGG	0.473													83	188					0	0	1	0	0	T	70349948	C	T	70349948	2	4	81	1	0	0	0	0	0	0	0	1	4370	842	30	2		2	DDX19B	16	70349948	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	57842	70349948	20004805	11771	15387											
DDX19A	55308	broad.mit.edu	37	16	70390074	70390074	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:70390074A>G	ENST00000302243.7	+	4	380	c.217A>G	c.(217-219)Aca>Gca	p.T73A	DDX19A_ENST00000417604.2_Missense_Mutation_p.T73A|DDX19A_ENST00000562509.1_3'UTR|RP11-529K1.3_ENST00000567706.1_Intron	NM_018332.3	NP_060802.1			DEAD (Asp-Glu-Ala-Asp) box polypeptide 19A											breast(1)|endometrium(1)|large_intestine(5)|lung(3)|urinary_tract(1)	11		Ovarian(137;0.221)				TGTTGATAACACAAACCAAGT	0.483													17	228					0	0	1	0	0	G	70390074	A	G	70390074	3	3	81	1	0	0	0	0	1	0	0	0	4369	159	6	3	231	3	DDX19A	16	70390074	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	40126	70390074	19964679	11772	15388											
DDX19A	55308	broad.mit.edu	37	16	70395365	70395365	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:70395365G>A	ENST00000302243.7	+	5	501	c.338G>A	c.(337-339)cGa>cAa	p.R113Q	DDX19A_ENST00000417604.2_Intron|DDX19A_ENST00000443119.2_Missense_Mutation_p.R23Q|DDX19A_ENST00000562509.1_3'UTR|RP11-529K1.3_ENST00000567706.1_Intron	NM_018332.3	NP_060802.1			DEAD (Asp-Glu-Ala-Asp) box polypeptide 19A											breast(1)|endometrium(1)|large_intestine(5)|lung(3)|urinary_tract(1)	11		Ovarian(137;0.221)				GGCTTCAATCGACCCTCCAAG	0.478													32	27					0	0	1	0	0	A	70395365	G	A	70395365	3	1	81	1	0	0	0	0	1	0	0	0	4369	1058	37	1	356	1	DDX19A	16	70395365	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	5291	70395365	19959388	11773	15389											
ST3GAL2	6483	broad.mit.edu	37	16	70416789	70416789	+	Silent	SNP	G	G	A	rs143187183		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:70416789G>A	ENST00000393640.4	-	5	2905	c.798C>T	c.(796-798)caC>caT	p.H266H	RP11-529K1.4_ENST00000566960.1_RNA|ST3GAL2_ENST00000342907.2_Silent_p.H266H			Q16842	SIA4B_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 2	266					amino sugar metabolic process	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,3-sialyltransferase activity			breast(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)	11		Ovarian(137;0.0694)				TCCACCTGTCGTGGATATACT	0.552													8	16					0	0	1	0	0	A	70416789	G	A	70416789	2	1	81	1	0	0	0	0	0	0	0	1	15271	1136	40	1		1	ST3GAL2	16	70416789	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	21424	70416789	19937964	11774	15390											
COG4	25839	broad.mit.edu	37	16	70515339	70515339	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:70515339T>C	ENST00000323786.5	-	18	2179	c.2158A>G	c.(2158-2160)Acc>Gcc	p.T720A		NM_001195139.1|NM_015386.2	NP_001182068.1|NP_056201.2	Q9H9E3	COG4_HUMAN	component of oligomeric golgi complex 4	716	D domain.				Golgi organization|Golgi vesicle prefusion complex stabilization|protein transport|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|pancreas(1)|prostate(2)	33		Ovarian(137;0.0694)				GTCACCGTGGTAAGGTAGGCA	0.597													6	110					0	0	1	0	0	C	70515339	T	C	70515339	3	2	81	1	0	0	0	0	1	0	0	0	3683	1638	57	3	219	3	COG4	16	70515339	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	98550	70515339	19839414	11775	15391											
COG4	25839	broad.mit.edu	37	16	70516638	70516638	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:70516638G>A	ENST00000323786.5	-	15	1935	c.1914C>T	c.(1912-1914)atC>atT	p.I638I		NM_001195139.1|NM_015386.2	NP_001182068.1|NP_056201.2	Q9H9E3	COG4_HUMAN	component of oligomeric golgi complex 4	634	D domain.				Golgi organization|Golgi vesicle prefusion complex stabilization|protein transport|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|pancreas(1)|prostate(2)	33		Ovarian(137;0.0694)				TAACCTCCTCGATGTTGTGGG	0.572													13	14					0	0	1	0	0	A	70516638	G	A	70516638	2	1	81	1	0	0	0	0	0	0	0	1	3683	1048	37	1		1	COG4	16	70516638	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1299	70516638	19838115	11776	15392											
SF3B3	23450	broad.mit.edu	37	16	70572290	70572290	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:70572290C>T	ENST00000302516.5	+	7	1101	c.890C>T	c.(889-891)tCg>tTg	p.S297L		NM_012426.4	NP_036558.3	Q15393	SF3B3_HUMAN	splicing factor 3b, subunit 3, 130kDa	297					protein complex assembly	catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex	nucleic acid binding|protein binding			breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53		Ovarian(137;0.0694)				AAAACCAAATCGATGTTCTTC	0.388													78	82					0	0	1	0	0	T	70572290	C	T	70572290	3	4	81	1	0	0	0	0	1	0	0	0	14206	893	31	1	912	1	SF3B3	16	70572290	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	55652	70572290	19782463	11777	15393											
SF3B3	23450	broad.mit.edu	37	16	70599032	70599032	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:70599032T>C	ENST00000302516.5	+	19	2739	c.2528T>C	c.(2527-2529)cTc>cCc	p.L843P		NM_012426.4	NP_036558.3	Q15393	SF3B3_HUMAN	splicing factor 3b, subunit 3, 130kDa	843					protein complex assembly	catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex	nucleic acid binding|protein binding			breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53		Ovarian(137;0.0694)				GCAGCATTCCTCAATGAAAAC	0.537													6	83					0	0	1	0	0	C	70599032	T	C	70599032	3	2	81	1	0	0	0	0	1	0	0	0	14206	1551	54	3	2598	3	SF3B3	16	70599032	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	26742	70599032	19755721	11778	15394											
IL34	146433	broad.mit.edu	37	16	70690536	70690536	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:70690536G>A	ENST00000429149.2	+	4	749	c.194G>A	c.(193-195)aGt>aAt	p.S65N	IL34_ENST00000566361.1_Missense_Mutation_p.S40N|IL34_ENST00000569641.1_3'UTR|IL34_ENST00000288098.2_Missense_Mutation_p.S65N	NM_001172771.1|NM_152456.2	NP_001166242.1|NP_689669.2	Q6ZMJ4	IL34_HUMAN	interleukin 34	65					positive regulation of cell proliferation|positive regulation of protein phosphorylation	extracellular space	cytokine activity|growth factor activity|macrophage colony-stimulating factor receptor binding			breast(1)|central_nervous_system(1)|kidney(9)|large_intestine(1)|lung(1)|skin(2)|urinary_tract(2)	17						TACAAGATCAGTGTGCCTTAC	0.562													4	52					0	0	1	0	0	A	70690536	G	A	70690536	3	1	81	1	0	0	0	0	1	0	0	0	7738	1029	36	2	204	2	IL34	16	70690536	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	91504	70690536	19664217	11779	15395											
IL34	146433	broad.mit.edu	37	16	70690941	70690941	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:70690941G>A	ENST00000429149.2	+	5	874	c.319G>A	c.(319-321)Gac>Aac	p.D107N	IL34_ENST00000566361.1_Missense_Mutation_p.D82N|IL34_ENST00000288098.2_Missense_Mutation_p.D107N	NM_001172771.1|NM_152456.2	NP_001166242.1|NP_689669.2	Q6ZMJ4	IL34_HUMAN	interleukin 34	107					positive regulation of cell proliferation|positive regulation of protein phosphorylation	extracellular space	cytokine activity|growth factor activity|macrophage colony-stimulating factor receptor binding			breast(1)|central_nervous_system(1)|kidney(9)|large_intestine(1)|lung(1)|skin(2)|urinary_tract(2)	17						GTCGGTGCAGGACGTGCTGCT	0.627													51	90					0	0	1	0	0	A	70690941	G	A	70690941	3	1	81	1	0	0	0	0	1	0	0	0	7738	1174	41	2	333	2	IL34	16	70690941	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	405	70690941	19663812	11780	15396											
IL34	146433	broad.mit.edu	37	16	70694006	70694006	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:70694006G>A	ENST00000429149.2	+	7	1200	c.645G>A	c.(643-645)ccG>ccA	p.P215P	IL34_ENST00000566361.1_Silent_p.P190P|IL34_ENST00000288098.2_Silent_p.P215P	NM_001172771.1|NM_152456.2	NP_001166242.1|NP_689669.2	Q6ZMJ4	IL34_HUMAN	interleukin 34	215					positive regulation of cell proliferation|positive regulation of protein phosphorylation	extracellular space	cytokine activity|growth factor activity|macrophage colony-stimulating factor receptor binding			breast(1)|central_nervous_system(1)|kidney(9)|large_intestine(1)|lung(1)|skin(2)|urinary_tract(2)	17						TGTACCCTCCGCCCCCGTGGT	0.662													49	63					0	0	1	0	0	A	70694006	G	A	70694006	2	1	81	1	0	0	0	0	0	0	0	1	7738	1074	38	1		1	IL34	16	70694006	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	3065	70694006	19660747	11781	15397											
MTSS1L	92154	broad.mit.edu	37	16	70713743	70713743	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:70713743G>A	ENST00000338779.6	-	5	602	c.328C>T	c.(328-330)Cgc>Tgc	p.R110C		NM_138383.2	NP_612392.1	Q765P7	MTSSL_HUMAN	metastasis suppressor 1-like	110	IMD.				filopodium assembly|signal transduction		actin binding|cytoskeletal adaptor activity|SH3 domain binding			breast(1)|central_nervous_system(2)|endometrium(1)|liver(1)|lung(1)|skin(1)	7						TCCTCGATGCGCTCCTGCAGC	0.736													5	18					0	0	1	0	0	A	70713743	G	A	70713743	3	1	81	1	0	0	0	0	1	0	0	0	10011	1087	38	1	1959	1	MTSS1L	16	70713743	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	19737	70713743	19641010	11782	15398											
VAC14	55697	broad.mit.edu	37	16	70765433	70765433	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:70765433C>A	ENST00000261776.5	-	14	1886	c.1626G>T	c.(1624-1626)cgG>cgT	p.R542R		NM_018052.3	NP_060522.3	Q08AM6	VAC14_HUMAN	Vac14 homolog (S. cerevisiae)	542					interspecies interaction between organisms	endoplasmic reticulum|endosome membrane|microsome	protein binding|receptor activity	p.R542R(1)		breast(2)|endometrium(2)|kidney(10)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Ovarian(137;0.0699)				CCAGGAGCTTCCGTTCGCTGC	0.507													6	118					0.00198382	0.00209725	1	1	0	A	70765433	C	A	70765433	2	1	81	1	0	0	0	0	0	0	0	1	17171	842	30	5		5	VAC14	16	70765433	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	51690	70765433	19589320	11783	15399											
VAC14	55697	broad.mit.edu	37	16	70796894	70796894	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:70796894C>T	ENST00000261776.5	-	11	1455	c.1195G>A	c.(1195-1197)Ggg>Agg	p.G399R	VAC14-AS1_ENST00000398177.1_RNA|VAC14-AS1_ENST00000562507.1_RNA	NM_018052.3	NP_060522.3	Q08AM6	VAC14_HUMAN	Vac14 homolog (S. cerevisiae)	399					interspecies interaction between organisms	endoplasmic reticulum|endosome membrane|microsome	protein binding|receptor activity	p.G399W(1)		breast(2)|endometrium(2)|kidney(10)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Ovarian(137;0.0699)				TGCACGATCCCGTCGAGGTGA	0.557													5	43					0	0	1	0	0	T	70796894	C	T	70796894	3	4	81	1	0	0	0	0	1	0	0	0	17171	652	23	1	1189	1	VAC14	16	70796894	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	31461	70796894	19557859	11784	15400											
VAC14	55697	broad.mit.edu	37	16	70814781	70814781	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:70814781G>A	ENST00000261776.5	-	9	1268	c.1008C>T	c.(1006-1008)gaC>gaT	p.D336D		NM_018052.3	NP_060522.3	Q08AM6	VAC14_HUMAN	Vac14 homolog (S. cerevisiae)	336					interspecies interaction between organisms	endoplasmic reticulum|endosome membrane|microsome	protein binding|receptor activity			breast(2)|endometrium(2)|kidney(10)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Ovarian(137;0.0699)				CCAGCTCGTCGTCCTCGGGGG	0.592													9	33					0	0	1	0	0	A	70814781	G	A	70814781	2	1	81	1	0	0	0	0	0	0	0	1	17171	1136	40	1		1	VAC14	16	70814781	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	17887	70814781	19539972	11785	15401											
HYDIN	54768	broad.mit.edu	37	16	70972621	70972621	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:70972621C>T	ENST00000393567.2	-	44	7041	c.6891G>A	c.(6889-6891)gaG>gaA	p.E2297E		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	2297										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				TTTGGAGACGCTCCTTCTCTT	0.532													12	23					0	0	1	0	0	T	70972621	C	T	70972621	2	4	81	1	0	0	0	0	0	0	0	1	7511	796	28	2		2	HYDIN	16	70972621	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	157840	70972621	19382132	11786	15402											
HYDIN	54768	broad.mit.edu	37	16	71025246	71025246	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:71025246G>A	ENST00000393567.2	-	25	3989	c.3839C>T	c.(3838-3840)aCg>aTg	p.T1280M		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	1280								p.T1280K(1)|p.T1232K(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				GGAAGCTTTCGTTTTTCTTAG	0.463													29	42					0	0	1	0	0	A	71025246	G	A	71025246	3	1	81	1	0	0	0	0	1	0	0	0	7511	1145	40	1	11771	1	HYDIN	16	71025246	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	52625	71025246	19329507	11787	15403											
HYDIN	54768	broad.mit.edu	37	16	71061529	71061529	+	Silent	SNP	G	G	A	rs141223232		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:71061529G>A	ENST00000393567.2	-	20	3168	c.3018C>T	c.(3016-3018)ctC>ctT	p.L1006L	HYDIN_ENST00000448691.1_Silent_p.L1006L|HYDIN_ENST00000448089.2_Silent_p.L1006L|HYDIN_ENST00000321489.5_Silent_p.L1006L	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	1006										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				AATAGCCTTCGAGTATCACAT	0.493													8	16					0	0	1	0	0	A	71061529	G	A	71061529	2	1	81	1	0	0	0	0	0	0	0	1	7511	1045	37	1		1	HYDIN	16	71061529	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	36283	71061529	19293224	11788	15404											
CHST4	10164	broad.mit.edu	37	16	71570688	71570688	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:71570688G>A	ENST00000338482.5	+	3	451	c.108G>A	c.(106-108)atG>atA	p.M36I	CHST4_ENST00000572450.1_Missense_Mutation_p.M36I|ZNF19_ENST00000568446.1_Intron|CHST4_ENST00000539698.3_Missense_Mutation_p.M36I			Q8NCG5	CHST4_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 4	36					cell-cell signaling|immune response|inflammatory response|N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane|trans-Golgi network	N-acetylglucosamine 6-O-sulfotransferase activity			cervix(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	21						CCCTGTCTATGAAGGCACAGC	0.517													17	72					0	0	1	0	0	A	71570688	G	A	71570688	3	1	81	1	0	0	0	0	1	0	0	0	3428	1290	45	2	110	2	CHST4	16	71570688	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	509159	71570688	18784065	11789	15405											
MARVELD3	91862	broad.mit.edu	37	16	71674836	71674836	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:71674836G>A	ENST00000299952.4	+	3	1182	c.1139G>A	c.(1138-1140)cGt>cAt	p.R380H	MARVELD3_ENST00000561682.1_Intron|MARVELD3_ENST00000565261.1_3'UTR|PHLPP2_ENST00000540628.1_3'UTR	NM_001017967.3|NM_001271329.1	NP_001017967.2|NP_001258258.1	Q96A59	MALD3_HUMAN	MARVEL domain containing 3	383	MARVEL.					integral to membrane				NS(1)|endometrium(3)|large_intestine(5)|lung(6)|skin(2)	17		Ovarian(137;0.125)				CTGGCCCTGCGTAGCTACCGA	0.572													11	30					0	0	1	0	0	A	71674836	G	A	71674836	3	1	81	1	0	0	0	0	1	0	0	0	9369	1145	40	1	1764	1	MARVELD3	16	71674836	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	104148	71674836	18679917	11790	15406											
PHLPP2	23035	broad.mit.edu	37	16	71683149	71683149	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:71683149G>A	ENST00000393524.2	-	17	4148	c.3415C>T	c.(3415-3417)Cga>Tga	p.R1139*	PHLPP2_ENST00000567016.1_Nonsense_Mutation_p.R1241*|PHLPP2_ENST00000360429.3_Intron|PHLPP2_ENST00000356272.3_Nonsense_Mutation_p.R1206*|PHLPP2_ENST00000568954.1_Nonsense_Mutation_p.R1206*|PHLPP2_ENST00000540628.1_Intron			Q6ZVD8	PHLP2_HUMAN	PH domain and leucine rich repeat protein phosphatase 2	1206						cytoplasm|membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						TTCTGTCTTCGGATCCCAAAA	0.532													9	74					0	0	1	0	0	A	71683149	G	A	71683149	4	1	81	1	0	0	0	0	0	1	0	0	11903	1124	39	1	359	1	PHLPP2	16	71683149	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	8313	71683149	18671604	11791	15407											
PHLPP2	23035	broad.mit.edu	37	16	71686719	71686719	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:71686719T>C	ENST00000393524.2	-	16	3323	c.2590A>G	c.(2590-2592)Aag>Gag	p.K864E	PHLPP2_ENST00000567016.1_Missense_Mutation_p.K966E|PHLPP2_ENST00000360429.3_Missense_Mutation_p.K931E|PHLPP2_ENST00000356272.3_Missense_Mutation_p.K931E|PHLPP2_ENST00000568954.1_Missense_Mutation_p.K931E|PHLPP2_ENST00000540628.1_Missense_Mutation_p.K141E			Q6ZVD8	PHLP2_HUMAN	PH domain and leucine rich repeat protein phosphatase 2	931	PP2C-like.					cytoplasm|membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						TTTTGGTCCTTCACCCTTTGA	0.572													4	68					0	0	1	0	0	C	71686719	T	C	71686719	3	2	81	1	0	0	0	0	1	0	0	0	11903	1792	62	3	1188	3	PHLPP2	16	71686719	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	3570	71686719	18668034	11792	15408											
PHLPP2	23035	broad.mit.edu	37	16	71689282	71689282	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:71689282A>G	ENST00000393524.2	-	15	2978	c.2245T>C	c.(2245-2247)Tat>Cat	p.Y749H	PHLPP2_ENST00000567016.1_Missense_Mutation_p.Y851H|PHLPP2_ENST00000360429.3_Missense_Mutation_p.Y816H|PHLPP2_ENST00000356272.3_Missense_Mutation_p.Y816H|RP11-432I5.6_ENST00000567077.1_RNA|PHLPP2_ENST00000568954.1_Missense_Mutation_p.Y816H|PHLPP2_ENST00000540628.1_Missense_Mutation_p.Y26H			Q6ZVD8	PHLP2_HUMAN	PH domain and leucine rich repeat protein phosphatase 2	816						cytoplasm|membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						AACATGCCATACACAGCTCCC	0.463													8	121					0	0	1	0	0	G	71689282	A	G	71689282	3	3	81	1	0	0	0	0	1	0	0	0	11903	391	14	3	1537	3	PHLPP2	16	71689282	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	2563	71689282	18665471	11793	15409											
PHLPP2	23035	broad.mit.edu	37	16	71692149	71692149	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:71692149G>A	ENST00000393524.2	-	13	2798	c.2065C>T	c.(2065-2067)Ctg>Ttg	p.L689L	PHLPP2_ENST00000567016.1_Silent_p.L791L|PHLPP2_ENST00000360429.3_Silent_p.L756L|PHLPP2_ENST00000356272.3_Silent_p.L756L|RP11-432I5.6_ENST00000567077.1_RNA|PHLPP2_ENST00000568954.1_Silent_p.L756L|PHLPP2_ENST00000540628.1_5'UTR			Q6ZVD8	PHLP2_HUMAN	PH domain and leucine rich repeat protein phosphatase 2	756						cytoplasm|membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						AATATGTCCAGTGTCTTGTGT	0.423													4	93					0	0	1	0	0	A	71692149	G	A	71692149	2	1	81	1	0	0	0	0	0	0	0	1	11903	1020	36	2		2	PHLPP2	16	71692149	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2867	71692149	18662604	11794	15410											
PHLPP2	23035	broad.mit.edu	37	16	71710385	71710385	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:71710385C>T	ENST00000393524.2	-	8	2169	c.1436G>A	c.(1435-1437)gGc>gAc	p.G479D	PHLPP2_ENST00000567016.1_Missense_Mutation_p.G514D|PHLPP2_ENST00000360429.3_Missense_Mutation_p.G479D|PHLPP2_ENST00000356272.3_Missense_Mutation_p.G479D|PHLPP2_ENST00000568954.1_Missense_Mutation_p.G479D			Q6ZVD8	PHLP2_HUMAN	PH domain and leucine rich repeat protein phosphatase 2	479						cytoplasm|membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						AAGGGAAAAGCCACTGAGTGT	0.502													14	26					0	0	1	0	0	T	71710385	C	T	71710385	3	4	81	1	0	0	0	0	1	0	0	0	11903	739	26	2	2579	2	PHLPP2	16	71710385	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	18236	71710385	18644368	11795	15411											
PHLPP2	23035	broad.mit.edu	37	16	71715723	71715723	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:71715723A>C	ENST00000393524.2	-	5	1554	c.821T>G	c.(820-822)aTt>aGt	p.I274S	PHLPP2_ENST00000567016.1_Missense_Mutation_p.I309S|PHLPP2_ENST00000360429.3_Missense_Mutation_p.I274S|PHLPP2_ENST00000356272.3_Missense_Mutation_p.I274S|PHLPP2_ENST00000568954.1_Missense_Mutation_p.I274S			Q6ZVD8	PHLP2_HUMAN	PH domain and leucine rich repeat protein phosphatase 2	274						cytoplasm|membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						GAGGTAGGTAATATCTTGACT	0.468													5	95					0	0	1	0	0	C	71715723	A	C	71715723	3	2	81	1	0	0	0	0	1	0	0	0	11903	101	4	4	3206	4	PHLPP2	16	71715723	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	5338	71715723	18639030	11796	15412											
PHLPP2	23035	broad.mit.edu	37	16	71736512	71736512	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:71736512C>T	ENST00000393524.2	-	2	1140	c.407G>A	c.(406-408)cGa>cAa	p.R136Q	PHLPP2_ENST00000567016.1_Missense_Mutation_p.R171Q|PHLPP2_ENST00000360429.3_Missense_Mutation_p.R136Q|PHLPP2_ENST00000356272.3_Missense_Mutation_p.R136Q|PHLPP2_ENST00000568954.1_Missense_Mutation_p.R136Q			Q6ZVD8	PHLP2_HUMAN	PH domain and leucine rich repeat protein phosphatase 2	136						cytoplasm|membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						ACCATAAAATCGAATCATACA	0.403													30	36					0	0	1	0	0	T	71736512	C	T	71736512	3	4	81	1	0	0	0	0	1	0	0	0	11903	884	31	1	3632	1	PHLPP2	16	71736512	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	20789	71736512	18618241	11797	15413											
AP1G1	164	broad.mit.edu	37	16	71768515	71768515	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:71768515C>T	ENST00000299980.4	-	22	2805	c.2364G>A	c.(2362-2364)caG>caA	p.Q788Q	AP1G1_ENST00000433195.2_Silent_p.Q811Q|AP1G1_ENST00000423132.2_Silent_p.Q791Q|AP1G1_ENST00000569748.1_Silent_p.Q788Q|AP1G1_ENST00000393512.3_Silent_p.Q791Q|AP1G1_ENST00000564155.1_Silent_p.Q213Q	NM_001128.5	NP_001119.3	O43747	AP1G1_HUMAN	adaptor-related protein complex 1, gamma 1 subunit	788	GAE.				endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane|recycling endosome	kinesin binding|protein transporter activity			breast(1)|endometrium(8)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|urinary_tract(1)	28		Ovarian(137;0.125)				TACTCACCTTCTGAGGGTTCA	0.428													145	210					0	0	1	0	0	T	71768515	C	T	71768515	2	4	81	1	0	0	0	0	0	0	0	1	728	912	32	2		2	AP1G1	16	71768515	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	32003	71768515	18586238	11798	15414											
AP1G1	164	broad.mit.edu	37	16	71803439	71803440	+	Splice_Site	INS	-	-	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:71803439_71803440insA	ENST00000423132.2	-	7	921	c.643_643insT	c.(643-645)gaa>Tgaa	p.E215fs	AP1G1_ENST00000569748.1_Intron|AP1G1_ENST00000393512.3_Intron|AP1G1_ENST00000299980.4_Intron|AP1G1_ENST00000433195.2_Intron			O43747	AP1G1_HUMAN	adaptor-related protein complex 1, gamma 1 subunit	214					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane|recycling endosome	kinesin binding|protein transporter activity			breast(1)|endometrium(8)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|urinary_tract(1)	28		Ovarian(137;0.125)				AGCTTGCTTTCAAAAAAAAATA	0.376													12	23	---	---	---	---						A	71803440	-	A	71803439	8	5	81	1	0	1	1	0	0	0	1	0	728	841	29	0		0	AP1G1	16	71803439	Splice_Site	INS	-	TCGA-DU-6392-01A-11D-1705-08	34924	71803439	18551314	11799	15415											
ZNF821	55565	broad.mit.edu	37	16	71898054	71898054	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:71898054G>A	ENST00000425432.1	-	6	783	c.404C>T	c.(403-405)gCt>gTt	p.A135V	ZNF821_ENST00000446827.2_Missense_Mutation_p.A93V|ZNF821_ENST00000564134.1_Missense_Mutation_p.A134V|ZNF821_ENST00000565601.1_Missense_Mutation_p.A135V|ZNF821_ENST00000313565.6_Missense_Mutation_p.A93V|ATXN1L_ENST00000569119.1_Intron|ZNF821_ENST00000564943.1_5'UTR	NM_001201552.1	NP_001188481.1	O75541	ZN821_HUMAN	zinc finger protein 821	135					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(2)	13						GTACACGTGAGCAATCAACTG	0.552													44	71					0	0	1	0	0	A	71898054	G	A	71898054	3	1	81	1	0	0	0	0	1	0	0	0	18225	971	34	2	846	2	ZNF821	16	71898054	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	94615	71898054	18456699	11800	15416											
DHODH	1723	broad.mit.edu	37	16	72046120	72046120	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:72046120G>A	ENST00000572887.1	+	2	370	c.193G>A	c.(193-195)Ggg>Agg	p.G65R	DHODH_ENST00000219240.4_Missense_Mutation_p.G65R			Q02127	PYRD_HUMAN	dihydroorotate dehydrogenase (quinone)	65					'de novo' pyrimidine base biosynthetic process|pyrimidine nucleoside biosynthetic process|UMP biosynthetic process	integral to membrane|mitochondrial inner membrane	dihydroorotate oxidase activity			breast(1)|endometrium(2)|large_intestine(4)|ovary(1)|skin(1)|stomach(1)	10		Ovarian(137;0.125)			Atovaquone(DB01117)|Leflunomide(DB01097)	CACCTCCCTGGGGCTCCTTCC	0.562													29	38					0	0	1	0	0	A	72046120	G	A	72046120	3	1	81	1	0	0	0	0	1	0	0	0	4512	1232	43	2	199	2	DHODH	16	72046120	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	148066	72046120	18308633	11801	15417											
HP	3240	broad.mit.edu	37	16	72090136	72090136	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:72090136A>G	ENST00000357763.4	+	2	109	c.82A>G	c.(82-84)Atc>Gtc	p.I28V	HP_ENST00000569639.1_Missense_Mutation_p.I28V|HP_ENST00000355906.5_Missense_Mutation_p.I28V|HP_ENST00000562526.1_Missense_Mutation_p.I28V|HP_ENST00000398131.2_Missense_Mutation_p.I28V|HP_ENST00000565574.1_Missense_Mutation_p.I28V|HP_ENST00000570083.1_Missense_Mutation_p.I28V|HPR_ENST00000356967.5_Intron			P00738	HPT_HUMAN	haptoglobin	28					cellular iron ion homeostasis|defense response|negative regulation of hydrogen peroxide catabolic process|negative regulation of oxidoreductase activity|positive regulation of cell death|proteolysis|response to hydrogen peroxide	extracellular region|haptoglobin-hemoglobin complex	hemoglobin binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|urinary_tract(1)	7		Renal(780;9.67e-05)|Ovarian(137;0.00327)|Hepatocellular(780;0.114)		BRCA - Breast invasive adenocarcinoma(221;0.00015)|Kidney(780;0.000529)		TGTCACGGATATCGCAGGTCA	0.552													31	41					0	0	1	0	0	G	72090136	A	G	72090136	3	3	81	1	0	0	0	0	1	0	0	0	7368	449	16	3	88	3	HP	16	72090136	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	44016	72090136	18264617	11802	15418											
TXNL4B	54957	broad.mit.edu	37	16	72122928	72122928	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:72122928G>A	ENST00000268483.3	-	3	563	c.242C>T	c.(241-243)aCt>aTt	p.T81I	TXNL4B_ENST00000423037.1_Missense_Mutation_p.T81I|TXNL4B_ENST00000426362.2_Missense_Mutation_p.T81I	NM_001142318.1|NM_017853.2	NP_001135790.1|NP_060323.1	Q9NX01	TXN4B_HUMAN	thioredoxin-like 4B	81					mitosis|mRNA processing|RNA splicing	spliceosomal complex				cervix(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(2)	8						GAAAAAGACAGTAGATGGAAT	0.368													53	86					0	0	1	0	0	A	72122928	G	A	72122928	3	1	81	1	0	0	0	0	1	0	0	0	16868	1029	36	2	215	2	TXNL4B	16	72122928	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	32792	72122928	18231825	11803	15419											
DHX38	9785	broad.mit.edu	37	16	72130083	72130083	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:72130083G>A	ENST00000268482.3	+	2	536	c.27G>A	c.(25-27)tcG>tcA	p.S9S	DHX38_ENST00000536867.1_Silent_p.S9S	NM_014003.3	NP_054722.2	Q92620	PRP16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 38	9					mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|nucleoplasm	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			endometrium(5)|kidney(1)|large_intestine(16)|lung(15)|pancreas(1)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	48		Ovarian(137;0.125)				AGGATGCCTCGATCCATCGAT	0.517													19	32					0	0	1	0	0	A	72130083	G	A	72130083	2	1	81	1	0	0	0	0	0	0	0	1	4539	1045	37	1		1	DHX38	16	72130083	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	7155	72130083	18224670	11804	15420											
DHX38	9785	broad.mit.edu	37	16	72141254	72141254	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:72141254C>T	ENST00000268482.3	+	20	3125	c.2616C>T	c.(2614-2616)agC>agT	p.S872S	DHX38_ENST00000536867.1_Silent_p.S184S	NM_014003.3	NP_054722.2	Q92620	PRP16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 38	872	Helicase C-terminal.				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|nucleoplasm	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			endometrium(5)|kidney(1)|large_intestine(16)|lung(15)|pancreas(1)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	48		Ovarian(137;0.125)				ACACCCAGAGCGCCTACAAGA	0.592													17	29					0	0	1	0	0	T	72141254	C	T	72141254	2	4	81	1	0	0	0	0	0	0	0	1	4539	767	27	1		1	DHX38	16	72141254	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	11171	72141254	18213499	11805	15421											
DHX38	9785	broad.mit.edu	37	16	72141442	72141442	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:72141442A>C	ENST00000268482.3	+	20	3313	c.2804A>C	c.(2803-2805)aAc>aCc	p.N935T	DHX38_ENST00000536867.1_Missense_Mutation_p.N247T	NM_014003.3	NP_054722.2	Q92620	PRP16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 38	935					mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|nucleoplasm	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			endometrium(5)|kidney(1)|large_intestine(16)|lung(15)|pancreas(1)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	48		Ovarian(137;0.125)				GCCCTGGACAACACAGGTGAG	0.592													13	41					0	0	1	0	0	C	72141442	A	C	72141442	3	2	81	1	0	0	0	0	1	0	0	0	4539	43	2	5	2878	5	DHX38	16	72141442	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	188	72141442	18213311	11806	15422											
PMFBP1	83449	broad.mit.edu	37	16	72162984	72162984	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:72162984A>C	ENST00000537465.1	-	13	2104	c.1946T>G	c.(1945-1947)tTt>tGt	p.F649C	PMFBP1_ENST00000237353.10_Missense_Mutation_p.F644C|PMFBP1_ENST00000355636.6_Missense_Mutation_p.F499C			Q8TBY8	PMFBP_HUMAN	polyamine modulated factor 1 binding protein 1	649										NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45		Ovarian(137;0.179)				TTTCTTTTTAAATTCCTGCCG	0.542													16	204					0	0	1	0	0	C	72162984	A	C	72162984	3	2	81	1	0	0	0	0	1	0	0	0	12182	14	1	5	1188	5	PMFBP1	16	72162984	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	21542	72162984	18191769	11807	15423											
PMFBP1	83449	broad.mit.edu	37	16	72164161	72164161	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:72164161G>A	ENST00000537465.1	-	12	1906	c.1748C>T	c.(1747-1749)gCt>gTt	p.A583V	PMFBP1_ENST00000237353.10_Missense_Mutation_p.A578V|PMFBP1_ENST00000355636.6_Missense_Mutation_p.A433V			Q8TBY8	PMFBP_HUMAN	polyamine modulated factor 1 binding protein 1	583										NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45		Ovarian(137;0.179)				ATCCTGCTCAGCCACTGTCTT	0.463													18	52					0	0	1	0	0	A	72164161	G	A	72164161	3	1	81	1	0	0	0	0	1	0	0	0	12182	971	34	2	1390	2	PMFBP1	16	72164161	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1177	72164161	18190592	11808	15424											
ZFHX3	463	broad.mit.edu	37	16	72828427	72828427	+	Silent	SNP	C	C	T	rs150499144	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:72828427C>T	ENST00000268489.5	-	9	8826	c.8154G>A	c.(8152-8154)gcG>gcA	p.A2718A	ZFHX3_ENST00000397992.5_Silent_p.A1804A	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	2718					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				CTTTGAAGAGCGCTCTGCAAA	0.557													30	53					0	0	1	0	0	T	72828427	C	T	72828427	2	4	81	1	0	0	0	0	0	0	0	1	17692	755	27	1		1	ZFHX3	16	72828427	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	664266	72828427	17526326	11809	15425											
ZFHX3	463	broad.mit.edu	37	16	72832394	72832394	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:72832394C>T	ENST00000268489.5	-	9	4859	c.4187G>A	c.(4186-4188)cGc>cAc	p.R1396H	ZFHX3_ENST00000397992.5_Missense_Mutation_p.R482H	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	1396					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				GTACACATGGCGATCTGACAC	0.502													24	43					0	0	1	0	0	T	72832394	C	T	72832394	3	4	81	1	0	0	0	0	1	0	0	0	17692	768	27	1	6932	1	ZFHX3	16	72832394	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3967	72832394	17522359	11810	15426											
ZFHX3	463	broad.mit.edu	37	16	72992225	72992225	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:72992225T>C	ENST00000268489.5	-	2	2492	c.1820A>G	c.(1819-1821)gAa>gGa	p.E607G	ZFHX3_ENST00000397992.5_Intron	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	607					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				CTCTGTGCTTTCATTTGGTTC	0.617													4	43					0	0	1	0	0	C	72992225	T	C	72992225	3	2	81	1	0	0	0	0	1	0	0	0	17692	1783	62	3	9327	3	ZFHX3	16	72992225	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	159831	72992225	17362528	11811	15427											
ZFHX3	463	broad.mit.edu	37	16	72992774	72992774	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:72992774G>T	ENST00000268489.5	-	2	1943	c.1271C>A	c.(1270-1272)gCt>gAt	p.A424D	ZFHX3_ENST00000397992.5_Intron	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	424					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				AGGACTGGAAGCCAGAGGCCC	0.607													64	104					1.02487e-32	1.36931e-32	1	1	0	T	72992774	G	T	72992774	3	4	81	1	0	0	0	0	1	0	0	0	17692	971	34	4	9876	4	ZFHX3	16	72992774	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	549	72992774	17361979	11812	15428											
CLEC18B	497190	broad.mit.edu	37	16	74447532	74447532	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:74447532G>T	ENST00000339953.5	-	4	620	c.499C>A	c.(499-501)Ctg>Atg	p.L167M		NM_001011880.2	NP_001011880.2	Q6UXF7	CL18B_HUMAN	C-type lectin domain family 18, member B	167	SCP.					extracellular region	sugar binding			endometrium(3)|kidney(9)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						GCAGAGCACAGGTGCCGCCCA	0.617													12	151					1.49906e-05	1.6816e-05	1	1	0	T	74447532	G	T	74447532	3	4	81	1	0	0	0	0	1	0	0	0	3526	991	35	4	908	4	CLEC18B	16	74447532	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1454758	74447532	15907221	11813	15429											
CLEC18B	497190	broad.mit.edu	37	16	74451985	74451985	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:74451985C>T	ENST00000339953.5	-	3	549	c.428G>A	c.(427-429)cGc>cAc	p.R143H		NM_001011880.2	NP_001011880.2	Q6UXF7	CL18B_HUMAN	C-type lectin domain family 18, member B	143	SCP.					extracellular region	sugar binding			endometrium(3)|kidney(9)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						GGTGGCGTTGCGAGCACACTC	0.627													9	17					0	0	1	0	0	T	74451985	C	T	74451985	3	4	81	1	0	0	0	0	1	0	0	0	3526	768	27	1	983	1	CLEC18B	16	74451985	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	4453	74451985	15902768	11814	15430											
GLG1	2734	broad.mit.edu	37	16	74490600	74490600	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:74490600C>T	ENST00000422840.2	-	25	3318	c.3319G>A	c.(3319-3321)Gag>Aag	p.E1107K	GLG1_ENST00000205061.5_Missense_Mutation_p.E1107K|GLG1_ENST00000447066.2_Missense_Mutation_p.E1096K	NM_001145667.1	NP_001139139.1	Q92896	GSLG1_HUMAN	golgi glycoprotein 1	1107						Golgi membrane|integral to membrane	receptor binding	p.E1107K(1)		breast(2)|cervix(2)|endometrium(6)|kidney(8)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(1)	57						TTTTTGCACTCGGGCTGTAAC	0.418													52	66					0	0	1	0	0	T	74490600	C	T	74490600	3	4	81	1	0	0	0	0	1	0	0	0	6478	893	31	1	308	1	GLG1	16	74490600	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	38615	74490600	15864153	11815	15431											
RFWD3	55159	broad.mit.edu	37	16	74678318	74678318	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:74678318C>T	ENST00000361070.4	-	6	1118	c.1021G>A	c.(1021-1023)Gtc>Atc	p.V341I	RFWD3_ENST00000571750.1_Missense_Mutation_p.V341I	NM_018124.3	NP_060594.3	Q6PCD5	RFWD3_HUMAN	ring finger and WD repeat domain 3	341					DNA repair|mitotic cell cycle G1/S transition DNA damage checkpoint|response to ionizing radiation	nucleus	MDM2 binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	26						GCATAAAGGACGACAATGTCA	0.458													54	93					0	0	1	0	0	T	74678318	C	T	74678318	3	4	81	1	0	0	0	0	1	0	0	0	13313	536	19	1	1335	1	RFWD3	16	74678318	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	187718	74678318	15676435	11816	15432											
MLKL	197259	broad.mit.edu	37	16	74719482	74719482	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:74719482C>A	ENST00000308807.7	-	5	1186		c.e5-1		MLKL_ENST00000306247.7_Intron	NM_152649.2	NP_689862.1	Q8NB16	MLKL_HUMAN	mixed lineage kinase domain-like								ATP binding|protein binding|protein kinase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(6)|skin(1)|stomach(2)	19						CCTCACTATTCTATAAGGATT	0.418													10	26					0.000978159	0.00104673	1	1	0	A	74719482	C	A	74719482	5	1	81	1	0	0	0	0	0	0	1	0	9667	927	32	4	752	4	MLKL	16	74719482	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	41164	74719482	15635271	11817	15433											
MLKL	197259	broad.mit.edu	37	16	74729471	74729471	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:74729471A>G	ENST00000308807.7	-	2	648	c.185T>C	c.(184-186)aTg>aCg	p.M62T	MLKL_ENST00000306247.7_Missense_Mutation_p.M62T	NM_152649.2	NP_689862.1	Q8NB16	MLKL_HUMAN	mixed lineage kinase domain-like	62							ATP binding|protein binding|protein kinase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(6)|skin(1)|stomach(2)	19						GAAGCGGTTCATGGCTGTGGT	0.552													18	58					0	0	1	0	0	G	74729471	A	G	74729471	3	3	81	1	0	0	0	0	1	0	0	0	9667	217	8	3	1301	3	MLKL	16	74729471	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	9989	74729471	15625282	11818	15434											
CTRB2	440387	broad.mit.edu	37	16	75238090	75238090	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:75238090G>T	ENST00000303037.8	-	7	804	c.761C>A	c.(760-762)cCc>cAc	p.P254H		NM_001025200.3	NP_001020371.3	Q6GPI1	CTRB2_HUMAN	chymotrypsinogen B2	254	Peptidase S1.				digestion|proteolysis	extracellular space	serine-type endopeptidase activity			endometrium(1)|large_intestine(1)|lung(2)	4						CTGCACCCAGGGTATGAGCTT	0.612													27	61					9.39395e-14	1.1871e-13	1	1	0	T	75238090	G	T	75238090	3	4	81	1	0	0	0	0	1	0	0	0	4050	1232	43	5	34	5	CTRB2	16	75238090	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	508619	75238090	15116663	11819	15435											
BCAR1	9564	broad.mit.edu	37	16	75263741	75263741	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:75263741C>T	ENST00000546196.1	-	7	3846	c.2194G>A	c.(2194-2196)Gcc>Acc	p.A732T	BCAR1_ENST00000162330.5_Missense_Mutation_p.A761T|BCAR1_ENST00000393422.2_Missense_Mutation_p.A779T|BCAR1_ENST00000420641.3_Missense_Mutation_p.A779T|BCAR1_ENST00000393420.6_Missense_Mutation_p.A779T|BCAR1_ENST00000538440.2_Missense_Mutation_p.A761T|BCAR1_ENST00000418647.3_Missense_Mutation_p.A807T|BCAR1_ENST00000566982.1_5'UTR|BCAR1_ENST00000542031.2_Missense_Mutation_p.A759T|BCAR1_ENST00000535626.2_Missense_Mutation_p.A613T			P56945	BCAR1_HUMAN	breast cancer anti-estrogen resistance 1	761					actin filament organization|B cell receptor signaling pathway|blood coagulation|cell adhesion|cell division|cell migration|cell proliferation|epidermal growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|integrin-mediated signaling pathway|nerve growth factor receptor signaling pathway|platelet-derived growth factor receptor signaling pathway|positive regulation of cell migration|regulation of apoptosis|regulation of cell growth|T cell receptor signaling pathway	cytosol|focal adhesion|membrane fraction|ruffle	protein kinase binding|protein phosphatase binding|SH3 domain binding|signal transducer activity			breast(2)|central_nervous_system(5)|endometrium(1)|kidney(6)|large_intestine(1)|liver(1)|lung(13)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	35				BRCA - Breast invasive adenocarcinoma(221;0.169)		GCGTCCACGGCGTTGGTCAGT	0.652													44	63					0	0	1	0	0	T	75263741	C	T	75263741	3	4	81	1	0	0	0	0	1	0	0	0	1346	768	27	1	335	1	BCAR1	16	75263741	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	25651	75263741	15091012	11820	15436											
CHST6	4166	broad.mit.edu	37	16	75513169	75513169	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:75513169C>A	ENST00000332272.4	-	3	737	c.558G>T	c.(556-558)ccG>ccT	p.P186P	RP11-77K12.4_ENST00000530512.3_RNA|CHST6_ENST00000390664.2_Silent_p.P186P	NM_021615.4	NP_067628.1	Q9GZX3	CHST6_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6	186					keratan sulfate biosynthetic process|N-acetylglucosamine metabolic process	Golgi membrane|integral to membrane	N-acetylglucosamine 6-O-sulfotransferase activity			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						CGCTGAGCAGCGGGTAGAGCA	0.706													41	40					1.57945e-13	1.99329e-13	1	1	0	A	75513169	C	A	75513169	2	1	81	1	0	0	0	0	0	0	0	1	3430	755	27	5		5	CHST6	16	75513169	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	249428	75513169	14841584	11821	15437											
TMEM231	79583	broad.mit.edu	37	16	75573914	75573914	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:75573914A>G	ENST00000568377.1	-	6	1054	c.1016T>C	c.(1015-1017)tTg>tCg	p.L339S	TMEM231_ENST00000258173.6_Missense_Mutation_p.L310S|RP11-77K12.7_ENST00000460606.1_Intron|TMEM231_ENST00000565067.1_Missense_Mutation_p.L262S	NM_001077416.1	NP_001070884	Q9H6L2	TM231_HUMAN	transmembrane protein 231							integral to membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5						CTCCTTACACAAGTCTCCCCG	0.483													14	15					0	0	1	0	0	G	75573914	A	G	75573914	3	3	81	1	0	0	0	0	1	0	0	0	16209	131	5	3	25	3	TMEM231	16	75573914	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	60745	75573914	14780839	11822	15438											
CNTNAP4	85445	broad.mit.edu	37	16	76350288	76350288	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:76350288G>A	ENST00000476707.1	+	1	212	c.73G>A	c.(73-75)Gtg>Atg	p.V25M	CNTNAP4_ENST00000307431.8_Intron|CNTNAP4_ENST00000469589.1_Intron|CNTNAP4_ENST00000478060.1_Intron|CNTNAP4_ENST00000377504.4_Intron			Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	0					cell adhesion|signal transduction	integral to membrane	receptor binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						TAACCCTAACGTGGCATTGTT	0.448													10	16					0	0	1	0	0	A	76350288	G	A	76350288	3	1	81	1	0	0	0	0	1	0	0	0	3672	1160	40	1		1	CNTNAP4	16	76350288	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	776374	76350288	14004465	11823	15439											
CNTNAP4	85445	broad.mit.edu	37	16	76350360	76350360	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:76350360A>C	ENST00000307431.8	+	3	518	c.133A>C	c.(133-135)Agt>Cgt	p.S45R	CNTNAP4_ENST00000476707.1_Missense_Mutation_p.S49R|CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000478060.1_Missense_Mutation_p.S21R|CNTNAP4_ENST00000377504.4_Missense_Mutation_p.S45R	NM_033401.3	NP_207837.2	Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	46	F5/8 type C.				cell adhesion|signal transduction	integral to membrane	receptor binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						ATCCTTCAGCAGTTCTTCCGA	0.498													9	28					0	0	1	0	0	C	76350360	A	C	76350360	3	2	81	1	0	0	0	0	1	0	0	0	3672	188	7	5	155	5	CNTNAP4	16	76350360	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	72	76350360	14004393	11824	15440											
VAT1L	57687	broad.mit.edu	37	16	77850856	77850856	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:77850856A>T	ENST00000302536.2	+	2	425	c.272A>T	c.(271-273)aAt>aTt	p.N91I		NM_020927.1	NP_065978.1	Q9HCJ6	VAT1L_HUMAN	vesicle amine transport 1-like	91							oxidoreductase activity|zinc ion binding			central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(10)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						CGACAAGGGAATATTGACAAC	0.443													45	48					0	0	1	0	0	T	77850856	A	T	77850856	3	4	81	1	0	0	0	0	1	0	0	0	17190	101	4	4	278	4	VAT1L	16	77850856	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	1500496	77850856	12503897	11825	15441											
CLEC3A	10143	broad.mit.edu	37	16	78064481	78064481	+	Missense_Mutation	SNP	G	G	A	rs147323906		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:78064481G>A	ENST00000299642.4	+	3	449	c.364G>A	c.(364-366)Gcc>Acc	p.A122T	RP11-281J9.2_ENST00000563114.1_RNA|CLEC3A_ENST00000575655.1_Missense_Mutation_p.A113T|CLEC3A_ENST00000565808.1_3'UTR	NM_001244755.1	NP_001231684.1	O75596	CLC3A_HUMAN	C-type lectin domain family 3, member A	113	C-type lectin.				skeletal system development	extracellular region	sugar binding			NS(1)|endometrium(2)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	18						CGAAATCAACGCCCTCCAAGA	0.493													19	33					0	0	1	0	0	A	78064481	G	A	78064481	3	1	81	1	0	0	0	0	1	0	0	0	3533	1087	38	1	347	1	CLEC3A	16	78064481	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	213625	78064481	12290272	11826	15442											
WWOX	51741	broad.mit.edu	37	16	78142332	78142332	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:78142332G>T	ENST00000566780.1	+	2	486	c.120G>T	c.(118-120)gaG>gaT	p.E40D	WWOX_ENST00000402655.2_Missense_Mutation_p.E40D|WWOX_ENST00000355860.3_Missense_Mutation_p.E40D|WWOX_ENST00000539474.2_Missense_Mutation_p.E40D|WWOX_ENST00000406884.2_Missense_Mutation_p.E40D|WWOX_ENST00000408984.3_Missense_Mutation_p.E40D	NM_016373.2	NP_057457.1	Q9NZC7	WWOX_HUMAN	WW domain containing oxidoreductase	40	WW 1.				apoptosis|negative regulation of Wnt receptor signaling pathway|steroid metabolic process|Wnt receptor signaling pathway	Golgi apparatus|mitochondrion|nucleus	coenzyme binding|oxidoreductase activity|protein dimerization activity			large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	7		all_cancers(2;1.97e-181)|all_epithelial(2;3.85e-160)|all_lung(2;2.03e-39)|Lung NSC(2;7.16e-35)|Colorectal(2;6.96e-21)|all_hematologic(2;1.13e-16)|Melanoma(2;5.16e-06)|all_neural(2;8.84e-06)|Renal(2;5.26e-05)|Medulloblastoma(2;0.00498)|Breast(2;0.00631)|Lung SC(2;0.0261)|Prostate(104;0.167)		UCEC - Uterine corpus endometrioid carcinoma (2;0.012)|Epithelial(1;2.65e-39)|all cancers(1;3.26e-34)|STAD - Stomach adenocarcinoma(1;5.1e-20)|COAD - Colon adenocarcinoma(1;1.04e-11)|Colorectal(1;3.4e-11)|OV - Ovarian serous cystadenocarcinoma(1;1.01e-10)|BRCA - Breast invasive adenocarcinoma(1;0.00196)|Kidney(780;0.232)		ACACCGAGGAGAAGACTCAGT	0.338													4	47					0.184627	0.18622	1	1	0	T	78142332	G	T	78142332	3	4	81	1	0	0	0	0	1	0	0	0	17474	933	33	4	130	4	WWOX	16	78142332	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	77851	78142332	12212421	11827	15443											
WWOX	51741	broad.mit.edu	37	16	78458769	78458769	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:78458769C>A	ENST00000566780.1	+	7	974	c.608C>A	c.(607-609)cCt>cAt	p.P203H	WWOX_ENST00000402655.2_Intron|WWOX_ENST00000539474.2_Intron|WWOX_ENST00000406884.2_Intron|WWOX_ENST00000408984.3_Missense_Mutation_p.P203H	NM_016373.2	NP_057457.1	Q9NZC7	WWOX_HUMAN	WW domain containing oxidoreductase	203	Interaction with MAPT (By similarity).				apoptosis|negative regulation of Wnt receptor signaling pathway|steroid metabolic process|Wnt receptor signaling pathway	Golgi apparatus|mitochondrion|nucleus	coenzyme binding|oxidoreductase activity|protein dimerization activity			large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	7		all_cancers(2;1.97e-181)|all_epithelial(2;3.85e-160)|all_lung(2;2.03e-39)|Lung NSC(2;7.16e-35)|Colorectal(2;6.96e-21)|all_hematologic(2;1.13e-16)|Melanoma(2;5.16e-06)|all_neural(2;8.84e-06)|Renal(2;5.26e-05)|Medulloblastoma(2;0.00498)|Breast(2;0.00631)|Lung SC(2;0.0261)|Prostate(104;0.167)		UCEC - Uterine corpus endometrioid carcinoma (2;0.012)|Epithelial(1;2.65e-39)|all cancers(1;3.26e-34)|STAD - Stomach adenocarcinoma(1;5.1e-20)|COAD - Colon adenocarcinoma(1;1.04e-11)|Colorectal(1;3.4e-11)|OV - Ovarian serous cystadenocarcinoma(1;1.01e-10)|BRCA - Breast invasive adenocarcinoma(1;0.00196)|Kidney(780;0.232)		TTTTTCAGGCCTCTTCATGTG	0.463													21	496					1.22574e-08	1.46304e-08	1	1	0	A	78458769	C	A	78458769	3	1	81	1	0	0	0	0	1	0	0	0	17474	681	24	4	696	4	WWOX	16	78458769	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	316437	78458769	11895984	11828	15444											
WWOX	51741	broad.mit.edu	37	16	78466627	78466627	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:78466627C>T	ENST00000566780.1	+	8	1400	c.1034C>T	c.(1033-1035)gCg>gTg	p.A345V	WWOX_ENST00000402655.2_Intron|WWOX_ENST00000539474.2_Intron|WWOX_ENST00000406884.2_Intron|WWOX_ENST00000408984.3_Missense_Mutation_p.A345V	NM_016373.2	NP_057457.1	Q9NZC7	WWOX_HUMAN	WW domain containing oxidoreductase	345	Interaction with MAPT (By similarity).				apoptosis|negative regulation of Wnt receptor signaling pathway|steroid metabolic process|Wnt receptor signaling pathway	Golgi apparatus|mitochondrion|nucleus	coenzyme binding|oxidoreductase activity|protein dimerization activity			large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	7		all_cancers(2;1.97e-181)|all_epithelial(2;3.85e-160)|all_lung(2;2.03e-39)|Lung NSC(2;7.16e-35)|Colorectal(2;6.96e-21)|all_hematologic(2;1.13e-16)|Melanoma(2;5.16e-06)|all_neural(2;8.84e-06)|Renal(2;5.26e-05)|Medulloblastoma(2;0.00498)|Breast(2;0.00631)|Lung SC(2;0.0261)|Prostate(104;0.167)		UCEC - Uterine corpus endometrioid carcinoma (2;0.012)|Epithelial(1;2.65e-39)|all cancers(1;3.26e-34)|STAD - Stomach adenocarcinoma(1;5.1e-20)|COAD - Colon adenocarcinoma(1;1.04e-11)|Colorectal(1;3.4e-11)|OV - Ovarian serous cystadenocarcinoma(1;1.01e-10)|BRCA - Breast invasive adenocarcinoma(1;0.00196)|Kidney(780;0.232)		TTTACCTTGGCGAGGCCTTTC	0.532													82	141					0	0	1	0	0	T	78466627	C	T	78466627	3	4	81	1	0	0	0	0	1	0	0	0	17474	768	27	1	1126	1	WWOX	16	78466627	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	7858	78466627	11888126	11829	15445											
MAF	4094	broad.mit.edu	37	16	79633678	79633678	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:79633678C>T	ENST00000393350.1	-	1	933	c.122G>A	c.(121-123)cGc>cAc	p.R41H	MAF_ENST00000569649.1_Missense_Mutation_p.R41H|MAF_ENST00000326043.4_Missense_Mutation_p.R41H	NM_001031804.2	NP_001026974.1	O75444	MAF_HUMAN	v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog	41					transcription from RNA polymerase II promoter	chromatin|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)	10		all_epithelial(2;0.139)|Lung NSC(2;0.186)|Melanoma(2;0.211)		UCEC - Uterine corpus endometrioid carcinoma (2;0.0178)		GCTGATGATGCGGTCGGTCTC	0.607			T	IGH@	MM								4	30					0	0	1	0	0	T	79633678	C	T	79633678	3	4	81	1	0	0	0	0	1	0	0	0	9201	768	27	1	1101	1	MAF	16	79633678	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1167051	79633678	10721075	11830	15446											
MAF	4094	broad.mit.edu	37	16	79633850	79633850	+	Translation_Start_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:79633850G>T	ENST00000393350.1	-	0	761				MAF_ENST00000326043.4_De_novo_Start_InFrame	NM_001031804.2	NP_001026974.1	O75444	MAF_HUMAN	v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog						transcription from RNA polymerase II promoter	chromatin|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)	10		all_epithelial(2;0.139)|Lung NSC(2;0.186)|Melanoma(2;0.211)		UCEC - Uterine corpus endometrioid carcinoma (2;0.0178)		ATGGGCTGCAGGAGAGGGGCC	0.721			T	IGH@	MM								6	10					3.59834e-05	3.99423e-05	1	1	0	T	79633850	G	T	79633850	1	4	81	1	0	0	0	0	0	0	0	0	9201	1015	35	4		4	MAF	16	79633850	Translation_Start_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	172	79633850	10720903	11831	15447											
ATMIN	23300	broad.mit.edu	37	16	81069745	81069745	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:81069745C>T	ENST00000299575.4	+	1	294	c.270C>T	c.(268-270)ggC>ggT	p.G90G		NM_015251.2	NP_056066.2	O43313	ATMIN_HUMAN	ATM interactor	90					response to DNA damage stimulus	nucleus	zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	20						CCGTGCGCGGCTGCGGCAAGA	0.746													9	8					0	0	1	0	0	T	81069745	C	T	81069745	2	4	81	1	0	0	0	0	0	0	0	1	1109	784	28	2		2	ATMIN	16	81069745	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1435895	81069745	9285008	11832	15448											
ATMIN	23300	broad.mit.edu	37	16	81077072	81077072	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:81077072C>A	ENST00000566488.1	+	3	1464	c.501C>A	c.(499-501)tcC>tcA	p.S167S	ATMIN_ENST00000564241.1_Silent_p.S167S|ATMIN_ENST00000539819.1_3'UTR|ATMIN_ENST00000299575.4_Silent_p.S323S			O43313	ATMIN_HUMAN	ATM interactor	323					response to DNA damage stimulus	nucleus	zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	20						CAGCCGACTCCTCAGCCCAGC	0.517													31	58					4.11147e-13	5.17576e-13	1	1	0	A	81077072	C	A	81077072	2	1	81	1	0	0	0	0	0	0	0	1	1109	668	24	4		4	ATMIN	16	81077072	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	7327	81077072	9277681	11833	15449											
PKD1L2	114780	broad.mit.edu	37	16	81161375	81161375	+	RNA	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:81161375C>A	ENST00000525539.1	-	0	6339				PKD1L2_ENST00000533478.1_RNA|PKD1L2_ENST00000534142.1_RNA	NM_052892.3	NP_443124.3	Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						CCTTGACGTGCTTTGGCGATC	0.517													3	28					0.115264	0.117126	1	1	0	A	81161375	C	A	81161375	1	1	81	0	1	0	0	0	0	0	0	0	12013	797	28	4		4	PKD1L2	16	81161375	RNA	SNP	C	TCGA-DU-6392-01A-11D-1705-08	84303	81161375	9193378	11834	15450											
PKD1L2	114780	broad.mit.edu	37	16	81181860	81181860	+	RNA	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:81181860C>T	ENST00000525539.1	-	0	4855				PKD1L2_ENST00000533478.1_RNA	NM_052892.3	NP_443124.3	Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						GACCCGGGGACGGGTGTTCTG	0.567													25	22					0	0	1	0	0	T	81181860	C	T	81181860	1	4	81	0	1	0	0	0	0	0	0	0	12013	536	19	1		1	PKD1L2	16	81181860	RNA	SNP	C	TCGA-DU-6392-01A-11D-1705-08	20485	81181860	9172893	11835	15451											
PKD1L2	114780	broad.mit.edu	37	16	81232492	81232492	+	RNA	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:81232492T>C	ENST00000337114.4	-	0	1317				PKD1L2_ENST00000525539.1_RNA	NM_001076780.1	NP_001070248.1	Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						GTAATGTTTCTGGAGATTGTA	0.557													25	145					0	0	1	0	0	C	81232492	T	C	81232492	1	2	81	0	1	0	0	0	0	0	0	0	12013	1588	55	3		3	PKD1L2	16	81232492	RNA	SNP	T	TCGA-DU-6392-01A-11D-1705-08	50632	81232492	9122261	11836	15452											
PKD1L2	114780	broad.mit.edu	37	16	81232505	81232505	+	RNA	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:81232505G>T	ENST00000337114.4	-	0	1304				PKD1L2_ENST00000525539.1_RNA	NM_001076780.1	NP_001070248.1	Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						AGATTGTAGAGGTGGTGGTGT	0.567													15	164					0.00400662	0.00421823	1	1	0	T	81232505	G	T	81232505	1	4	81	0	1	0	0	0	0	0	0	0	12013	987	35	4		4	PKD1L2	16	81232505	RNA	SNP	G	TCGA-DU-6392-01A-11D-1705-08	13	81232505	9122248	11837	15453											
GAN	8139	broad.mit.edu	37	16	81388172	81388172	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:81388172G>A	ENST00000568107.2	+	3	607	c.445G>A	c.(445-447)Gtt>Att	p.V149I		NM_022041.3	NP_071324.1	Q9H2C0	GAN_HUMAN	gigaxonin		BACK.				cell death	cytoplasm|neurofilament	protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)	25		Colorectal(91;0.153)				CCTCCATCACGTTCATTACCT	0.458													34	124					0	0	1	0	0	A	81388172	G	A	81388172	3	1	81	1	0	0	0	0	1	0	0	0	6272	1145	40	1	455	1	GAN	16	81388172	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	155667	81388172	8966581	11838	15454											
CMIP	80790	broad.mit.edu	37	16	81725387	81725387	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:81725387T>C	ENST00000537098.3	+	11	1468	c.1396T>C	c.(1396-1398)Tat>Cat	p.Y466H	CMIP_ENST00000539778.2_Missense_Mutation_p.Y372H|CMIP_ENST00000566513.1_3'UTR|CMIP_ENST00000398040.4_Missense_Mutation_p.Y313H	NM_198390.2	NP_938204.2	Q8IY22	CMIP_HUMAN	c-Maf inducing protein	432						cytoplasm|nucleus				endometrium(5)|kidney(1)|lung(7)	13						TAGGTCAGACTATGATGACTG	0.527													9	15					0	0	1	0	0	C	81725387	T	C	81725387	3	2	81	1	0	0	0	0	1	0	0	0	3601	1522	53	3	1460	3	CMIP	16	81725387	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	337215	81725387	8629366	11839	15455											
PLCG2	5336	broad.mit.edu	37	16	81934302	81934302	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:81934302G>A	ENST00000359376.3	+	14	1493	c.1279G>A	c.(1279-1281)Gac>Aac	p.D427N		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	427	PI-PLC X-box.				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						AGTATTTGGCGACCTGCTGTT	0.612													15	23					0	0	1	0	0	A	81934302	G	A	81934302	3	1	81	1	0	0	0	0	1	0	0	0	12084	1058	37	1	1329	1	PLCG2	16	81934302	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	208915	81934302	8420451	11840	15456											
PLCG2	5336	broad.mit.edu	37	16	81954830	81954830	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:81954830G>A	ENST00000359376.3	+	21	2477	c.2263G>A	c.(2263-2265)Gtc>Atc	p.V755I		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	755					intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						CCTCTACGACGTCAGCAGAAT	0.428													21	44					0	0	1	0	0	A	81954830	G	A	81954830	3	1	81	1	0	0	0	0	1	0	0	0	12084	1145	40	1	2341	1	PLCG2	16	81954830	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	20528	81954830	8399923	11841	15457											
CDH13	1012	broad.mit.edu	37	16	83704395	83704395	+	Splice_Site	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:83704395T>G	ENST00000566620.1	+	9	1392	c.1102T>G	c.(1102-1104)Ttt>Gtt	p.F368V	CDH13_ENST00000268613.10_Splice_Site_p.F415V|CDH13_ENST00000428848.3_Splice_Site_p.F329V	NM_001220488.1|NM_001220489.1|NM_001220490.1|NM_001257.4	NP_001207417.1|NP_001207418.1|NP_001207419.1|NP_001248.1	P55290	CAD13_HUMAN	cadherin 13	368	Cadherin 3.				adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|Rac protein signal transduction|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|Rho protein signal transduction|sprouting angiogenesis	anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection	adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding			large_intestine(1)	1		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)		COAD - Colon adenocarcinoma(5;0.0268)		TTGTTTGCAGTTTCAAGCCAC	0.428													7	20					0	0	1	0	0	G	83704395	T	G	83704395	5	3	81	1	0	0	0	0	0	0	1	0	3121	1739	60	5	1136	5	CDH13	16	83704395	Splice_Site	SNP	T	TCGA-DU-6392-01A-11D-1705-08	1749565	83704395	6650358	11842	15458											
MLYCD	23417	broad.mit.edu	37	16	83940604	83940604	+	Missense_Mutation	SNP	G	G	A	rs147617160	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:83940604G>A	ENST00000262430.4	+	2	560	c.541G>A	c.(541-543)Gtg>Atg	p.V181M		NM_012213.2	NP_036345.2	O95822	DCMC_HUMAN	malonyl-CoA decarboxylase	181					acyl-CoA metabolic process|fatty acid biosynthetic process	mitochondrion|peroxisome	malonyl-CoA decarboxylase activity|methylmalonyl-CoA decarboxylase activity			NS(1)|biliary_tract(1)|breast(1)|kidney(2)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12						AATGAATGGGGTGCTGAAAGG	0.473													36	70					0	0	1	0	0	A	83940604	G	A	83940604	3	1	81	1	0	0	0	0	1	0	0	0	9686	1261	44	2	547	2	MLYCD	16	83940604	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	236209	83940604	6414149	11843	15459											
MLYCD	23417	broad.mit.edu	37	16	83945881	83945881	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:83945881C>T	ENST00000262430.4	+	4	876	c.857C>T	c.(856-858)gCg>gTg	p.A286V	RP11-505K9.4_ENST00000561562.1_3'UTR|RP11-505K9.4_ENST00000566309.1_Missense_Mutation_p.A56V	NM_012213.2	NP_036345.2	O95822	DCMC_HUMAN	malonyl-CoA decarboxylase	286					acyl-CoA metabolic process|fatty acid biosynthetic process	mitochondrion|peroxisome	malonyl-CoA decarboxylase activity|methylmalonyl-CoA decarboxylase activity			NS(1)|biliary_tract(1)|breast(1)|kidney(2)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12						ATCACTGCTGCGATCTTTTAT	0.507													48	51					0	0	1	0	0	T	83945881	C	T	83945881	3	4	81	1	0	0	0	0	1	0	0	0	9686	768	27	1	871	1	MLYCD	16	83945881	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	5277	83945881	6408872	11844	15460											
MLYCD	23417	broad.mit.edu	37	16	83948758	83948758	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:83948758C>T	ENST00000262430.4	+	5	1165	c.1146C>T	c.(1144-1146)agC>agT	p.S382S	RP11-505K9.4_ENST00000561562.1_Intron|RP11-505K9.4_ENST00000566309.1_Intron	NM_012213.2	NP_036345.2	O95822	DCMC_HUMAN	malonyl-CoA decarboxylase	382					acyl-CoA metabolic process|fatty acid biosynthetic process	mitochondrion|peroxisome	malonyl-CoA decarboxylase activity|methylmalonyl-CoA decarboxylase activity			NS(1)|biliary_tract(1)|breast(1)|kidney(2)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12						TCAGCAGCAGCGAGTGGGTGC	0.582													54	75					0	0	1	0	0	T	83948758	C	T	83948758	2	4	81	1	0	0	0	0	0	0	0	1	9686	767	27	1		1	MLYCD	16	83948758	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2877	83948758	6405995	11845	15461											
MLYCD	23417	broad.mit.edu	37	16	83948828	83948828	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:83948828C>A	ENST00000262430.4	+	5	1235	c.1216C>A	c.(1216-1218)Ctg>Atg	p.L406M	RP11-505K9.4_ENST00000561562.1_Intron|RP11-505K9.4_ENST00000566309.1_Intron	NM_012213.2	NP_036345.2	O95822	DCMC_HUMAN	malonyl-CoA decarboxylase	406					acyl-CoA metabolic process|fatty acid biosynthetic process	mitochondrion|peroxisome	malonyl-CoA decarboxylase activity|methylmalonyl-CoA decarboxylase activity			NS(1)|biliary_tract(1)|breast(1)|kidney(2)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12						CGCCTGGTACCTGTATGGAGA	0.647													31	52					2.46105e-21	3.22097e-21	1	1	0	A	83948828	C	A	83948828	3	1	81	1	0	0	0	0	1	0	0	0	9686	680	24	4	1234	4	MLYCD	16	83948828	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	70	83948828	6405925	11846	15462											
MLYCD	23417	broad.mit.edu	37	16	83948953	83948953	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:83948953C>A	ENST00000262430.4	+	5	1360	c.1341C>A	c.(1339-1341)tcC>tcA	p.S447S	RP11-505K9.4_ENST00000561562.1_Intron|RP11-505K9.4_ENST00000566309.1_Intron	NM_012213.2	NP_036345.2	O95822	DCMC_HUMAN	malonyl-CoA decarboxylase	447					acyl-CoA metabolic process|fatty acid biosynthetic process	mitochondrion|peroxisome	malonyl-CoA decarboxylase activity|methylmalonyl-CoA decarboxylase activity			NS(1)|biliary_tract(1)|breast(1)|kidney(2)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12						TCACCGGCTCCTGCGGCCTGA	0.632													9	66					7.48243e-07	8.64403e-07	1	1	0	A	83948953	C	A	83948953	2	1	81	1	0	0	0	0	0	0	0	1	9686	668	24	4		4	MLYCD	16	83948953	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	125	83948953	6405800	11847	15463											
SLC38A8	146167	broad.mit.edu	37	16	84050271	84050271	+	Missense_Mutation	SNP	C	C	T	rs140920764		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:84050271C>T	ENST00000299709.3	-	8	1014	c.1015G>A	c.(1015-1017)Gcc>Acc	p.A339T		NM_001080442.1	NP_001073911.1	A6NNN8	S38A8_HUMAN	solute carrier family 38, member 8	339					amino acid transport|sodium ion transport	integral to membrane				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						GAGGGGTCGGCCAGGGCGCTG	0.647													13	30					0	0	1	0	0	T	84050271	C	T	84050271	3	4	81	1	0	0	0	0	1	0	0	0	14665	739	26	2	304	2	SLC38A8	16	84050271	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	101318	84050271	6304482	11848	15464											
SLC38A8	146167	broad.mit.edu	37	16	84065494	84065494	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:84065494G>A	ENST00000299709.3	-	4	609	c.610C>T	c.(610-612)Cgt>Tgt	p.R204C		NM_001080442.1	NP_001073911.1	A6NNN8	S38A8_HUMAN	solute carrier family 38, member 8	204					amino acid transport|sodium ion transport	integral to membrane				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						TGGGACTCACGCACGAGGCCC	0.622													7	87					0	0	1	0	0	A	84065494	G	A	84065494	3	1	81	1	0	0	0	0	1	0	0	0	14665	1087	38	1	725	1	SLC38A8	16	84065494	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	15223	84065494	6289259	11849	15465											
SLC38A8	146167	broad.mit.edu	37	16	84075744	84075744	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:84075744C>A	ENST00000299709.3	-	1	18	c.19G>T	c.(19-21)Gga>Tga	p.G7*		NM_001080442.1	NP_001073911.1	A6NNN8	S38A8_HUMAN	solute carrier family 38, member 8	7					amino acid transport|sodium ion transport	integral to membrane				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						CCCCTGCTTCCTGGGGTCTGT	0.587													9	77					4.68919e-08	5.54405e-08	1	1	0	A	84075744	C	A	84075744	4	1	81	1	0	0	0	0	0	1	0	0	14665	690	24	4	1328	4	SLC38A8	16	84075744	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	10250	84075744	6279009	11850	15466											
MBTPS1	8720	broad.mit.edu	37	16	84126863	84126863	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:84126863C>A	ENST00000343411.3	-	6	1271	c.776G>T	c.(775-777)aGc>aTc	p.S259I	MBTPS1_ENST00000569770.1_5'UTR	NM_003791.2	NP_003782.1	Q14703	MBTP1_HUMAN	membrane-bound transcription factor peptidase, site 1	259	Serine protease.				cholesterol metabolic process|proteolysis	endoplasmic reticulum lumen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						CTCCCTCATGCTGGCTATCAC	0.468													16	43					8.00594e-06	9.07183e-06	1	1	0	A	84126863	C	A	84126863	3	1	81	1	0	0	0	0	1	0	0	0	9411	797	28	4	2454	4	MBTPS1	16	84126863	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	51119	84126863	6227890	11851	15467											
HSDL1	83693	broad.mit.edu	37	16	84163651	84163651	+	Silent	SNP	C	C	T	rs148654230	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:84163651C>T	ENST00000219439.4	-	4	782	c.606G>A	c.(604-606)acG>acA	p.T202T	HSDL1_ENST00000434463.3_Silent_p.T147T	NM_001146051.1|NM_031463.4	NP_001139523.1|NP_113651.4	Q3SXM5	HSDL1_HUMAN	hydroxysteroid dehydrogenase like 1	202						mitochondrion	oxidoreductase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7						CAGAAGAGATCGTGACGATGG	0.483													19	44					0	0	1	0	0	T	84163651	C	T	84163651	2	4	81	1	0	0	0	0	0	0	0	1	7434	871	31	1		1	HSDL1	16	84163651	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	36788	84163651	6191102	11852	15468											
ADAD2	161931	broad.mit.edu	37	16	84228961	84228961	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:84228961G>A	ENST00000268624.3	+	6	1132	c.1039G>A	c.(1039-1041)Ggc>Agc	p.G347S	ADAD2_ENST00000315906.5_Missense_Mutation_p.G265S|RP11-486L19.2_ENST00000569834.1_RNA|RP11-486L19.2_ENST00000565643.1_RNA|RP11-486L19.2_ENST00000536986.1_RNA	NM_139174.3	NP_631913.3	Q8NCV1	ADAD2_HUMAN	adenosine deaminase domain containing 2	265	A to I editase.				RNA processing	intracellular	adenosine deaminase activity|double-stranded RNA binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|skin(1)	13						TCTGGGCACCGGCAGCAGCTG	0.682													5	7					0	0	1	0	0	A	84228961	G	A	84228961	3	1	81	1	0	0	0	0	1	0	0	0	231	1116	39	1	1061	1	ADAD2	16	84228961	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	65310	84228961	6125792	11853	15469											
KCNG4	93107	broad.mit.edu	37	16	84270343	84270343	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:84270343T>A	ENST00000568181.1	-	2	869	c.749A>T	c.(748-750)gAg>gTg	p.E250V	KCNG4_ENST00000308251.4_Missense_Mutation_p.E250V			Q8TDN1	KCNG4_HUMAN	potassium voltage-gated channel, subfamily G, member 4	250						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	31						CACCTGGTCCTCCTCTGCCCT	0.617													3	19					0	0	1	0	0	A	84270343	T	A	84270343	3	1	81	1	0	0	0	0	1	0	0	0	8074	1551	54	5	816	5	KCNG4	16	84270343	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	41382	84270343	6084410	11854	15470											
ATP2C2	9914	broad.mit.edu	37	16	84444186	84444186	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:84444186G>A	ENST00000416219.2	+	5	519	c.430G>A	c.(430-432)Gtg>Atg	p.V144M	ATP2C2_ENST00000420010.2_3'UTR|ATP2C2_ENST00000262429.4_Missense_Mutation_p.V144M			O75185	AT2C2_HUMAN	ATPase, Ca++ transporting, type 2C, member 2	144					ATP biosynthetic process	Golgi membrane|integral to membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						AGTGCTTGTCGTGGTCACTGT	0.582													26	67					0	0	1	0	0	A	84444186	G	A	84444186	3	1	81	1	0	0	0	0	1	0	0	0	1143	1145	40	1	448	1	ATP2C2	16	84444186	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	173843	84444186	5910567	11855	15471											
ATP2C2	9914	broad.mit.edu	37	16	84472889	84472889	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:84472889G>A	ENST00000416219.2	+	12	1193	c.1104G>A	c.(1102-1104)gaG>gaA	p.E368E	ATP2C2_ENST00000420010.2_3'UTR|ATP2C2_ENST00000262429.4_Silent_p.E368E			O75185	AT2C2_HUMAN	ATPase, Ca++ transporting, type 2C, member 2	368					ATP biosynthetic process	Golgi membrane|integral to membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						CCATCGTGGAGACTTTAGGTG	0.572													28	32					0	0	1	0	0	A	84472889	G	A	84472889	2	1	81	1	0	0	0	0	0	0	0	1	1143	933	33	2		2	ATP2C2	16	84472889	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	28703	84472889	5881864	11856	15472											
ATP2C2	9914	broad.mit.edu	37	16	84497225	84497225	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:84497225C>T	ENST00000416219.2	+	28	2904	c.2815C>T	c.(2815-2817)Ctg>Ttg	p.L939L	RP11-517C16.2_ENST00000565700.1_RNA|ATP2C2_ENST00000420010.2_3'UTR|ATP2C2_ENST00000262429.4_Silent_p.L910L			O75185	AT2C2_HUMAN	ATPase, Ca++ transporting, type 2C, member 2	910					ATP biosynthetic process	Golgi membrane|integral to membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						GGCAGATTTGCTGTTTTTAAC	0.502													20	25					0	0	1	0	0	T	84497225	C	T	84497225	2	4	81	1	0	0	0	0	0	0	0	1	1143	796	28	2		2	ATP2C2	16	84497225	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	24336	84497225	5857528	11857	15473											
KLHL36	79786	broad.mit.edu	37	16	84695193	84695193	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:84695193C>T	ENST00000564996.1	+	5	1446	c.1305C>T	c.(1303-1305)taC>taT	p.Y435Y	KLHL36_ENST00000258157.5_Silent_p.Y372Y	NM_024731.2	NP_079007.2	Q8N4N3	KLH36_HUMAN	kelch-like family member 36	435										endometrium(3)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						GGTTCACGTACGGCCACGCGG	0.622													8	70					0	0	1	0	0	T	84695193	C	T	84695193	2	4	81	1	0	0	0	0	0	0	0	1	8432	547	19	1		1	KLHL36	16	84695193	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	197968	84695193	5659560	11858	15474											
KLHL36	79786	broad.mit.edu	37	16	84695222	84695222	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:84695222T>C	ENST00000564996.1	+	5	1475	c.1334T>C	c.(1333-1335)tTc>tCc	p.F445S	KLHL36_ENST00000258157.5_Missense_Mutation_p.F382S	NM_024731.2	NP_079007.2	Q8N4N3	KLH36_HUMAN	kelch-like family member 36	445										endometrium(3)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						TACAAAGACTTCGTGTACATC	0.637													7	71					0	0	1	0	0	C	84695222	T	C	84695222	3	2	81	1	0	0	0	0	1	0	0	0	8432	1783	62	3	1348	3	KLHL36	16	84695222	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	29	84695222	5659531	11859	15475											
USP10	9100	broad.mit.edu	37	16	84778569	84778569	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:84778569G>T	ENST00000219473.7	+	4	595	c.482G>T	c.(481-483)aGc>aTc	p.S161I	USP10_ENST00000562743.1_3'UTR|USP10_ENST00000570191.1_Missense_Mutation_p.S165I	NM_001272075.1|NM_005153.2	NP_001259004.1|NP_005144.2	Q14694	UBP10_HUMAN	ubiquitin specific peptidase 10	161					DNA damage response, signal transduction by p53 class mediator|DNA repair|protein deubiquitination|ubiquitin-dependent protein catabolic process	early endosome|intermediate filament cytoskeleton|nucleus	cystic fibrosis transmembrane conductance regulator binding|p53 binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			endometrium(3)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|stomach(1)|urinary_tract(1)	17						GGATATTACAGCTATTTGAAA	0.478													6	32					0.00198382	0.00209725	1	1	0	T	84778569	G	T	84778569	3	4	81	1	0	0	0	0	1	0	0	0	17101	971	34	4	496	4	USP10	16	84778569	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	83347	84778569	5576184	11860	15476											
USP10	9100	broad.mit.edu	37	16	84779110	84779110	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:84779110C>A	ENST00000219473.7	+	4	1136	c.1023C>A	c.(1021-1023)tcC>tcA	p.S341S	USP10_ENST00000570191.1_Silent_p.S345S	NM_001272075.1|NM_005153.2	NP_001259004.1|NP_005144.2	Q14694	UBP10_HUMAN	ubiquitin specific peptidase 10	341					DNA damage response, signal transduction by p53 class mediator|DNA repair|protein deubiquitination|ubiquitin-dependent protein catabolic process	early endosome|intermediate filament cytoskeleton|nucleus	cystic fibrosis transmembrane conductance regulator binding|p53 binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			endometrium(3)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|stomach(1)|urinary_tract(1)	17						AGCCCAAGTCCTGGGCCAGCC	0.572													3	12					0.004672	0.00489345	1	1	0	A	84779110	C	A	84779110	2	1	81	1	0	0	0	0	0	0	0	1	17101	668	24	4		4	USP10	16	84779110	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	541	84779110	5575643	11861	15477											
CRISPLD2	83716	broad.mit.edu	37	16	84872224	84872224	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:84872224C>T	ENST00000262424.5	+	2	347	c.123C>T	c.(121-123)aaC>aaT	p.N41N	CRISPLD2_ENST00000564567.1_Silent_p.N41N|CRISPLD2_ENST00000569090.1_Silent_p.N41N|CRISPLD2_ENST00000566431.1_3'UTR|CRISPLD2_ENST00000567845.1_Silent_p.N41N	NM_031476.3	NP_113664.1	Q9H0B8	CRLD2_HUMAN	cysteine-rich secretory protein LCCL domain containing 2	41						extracellular region|transport vesicle				endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)	18						ACCAGCACAACGAGTCTCACT	0.607													23	59					0	0	1	0	0	T	84872224	C	T	84872224	2	4	81	1	0	0	0	0	0	0	0	1	3906	535	19	1		1	CRISPLD2	16	84872224	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	93114	84872224	5482529	11862	15478											
ZDHHC7	55625	broad.mit.edu	37	16	85010773	85010773	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:85010773C>A	ENST00000313732.4	-	7	1030	c.678G>T	c.(676-678)gaG>gaT	p.E226D	ZDHHC7_ENST00000564466.1_Missense_Mutation_p.E263D|ZDHHC7_ENST00000569488.1_5'UTR	NM_017740.2	NP_060210.2	Q9NXF8	ZDHC7_HUMAN	zinc finger, DHHC-type containing 7	226						integral to membrane	acyltransferase activity|protein binding|zinc ion binding			large_intestine(6)|lung(4)	10						ACAGAAGACCCTCAAGGCACA	0.458													18	79					1.02788e-11	1.2764e-11	1	1	0	A	85010773	C	A	85010773	3	1	81	1	0	0	0	0	1	0	0	0	17678	680	24	4	256	4	ZDHHC7	16	85010773	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	138549	85010773	5343980	11863	15479											
KIAA0513	9764	broad.mit.edu	37	16	85100902	85100902	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:85100902C>T	ENST00000566428.1	+	2	856	c.225C>T	c.(223-225)aaC>aaT	p.N75N	KIAA0513_ENST00000567328.1_Silent_p.N75N|KIAA0513_ENST00000258180.3_Silent_p.N75N|KIAA0513_ENST00000538274.1_Silent_p.N75N			O60268	K0513_HUMAN	KIAA0513	75						cytoplasm				breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(9)|pancreas(1)	18				BRCA - Breast invasive adenocarcinoma(80;0.234)		CCTCCTCCAACGAGTCCTTCT	0.587													5	51					0	0	1	0	0	T	85100902	C	T	85100902	2	4	81	1	0	0	0	0	0	0	0	1	8223	535	19	1		1	KIAA0513	16	85100902	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	90129	85100902	5253851	11864	15480											
KIAA0513	9764	broad.mit.edu	37	16	85121920	85121920	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:85121920G>A	ENST00000566428.1	+	13	1856	c.1225G>A	c.(1225-1227)Gcc>Acc	p.A409T	KIAA0513_ENST00000258180.3_Missense_Mutation_p.A409T|KIAA0513_ENST00000538274.1_Missense_Mutation_p.A399T			O60268	K0513_HUMAN	KIAA0513	409						cytoplasm				breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(9)|pancreas(1)	18				BRCA - Breast invasive adenocarcinoma(80;0.234)		TGAGCAAATGGCCACTGAGTA	0.562													26	42					0	0	1	0	0	A	85121920	G	A	85121920	3	1	81	1	0	0	0	0	1	0	0	0	8223	1203	42	2	1271	2	KIAA0513	16	85121920	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	21018	85121920	5232833	11865	15481											
GINS2	51659	broad.mit.edu	37	16	85721174	85721174	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:85721174G>T	ENST00000253462.3	-	2	197	c.97C>A	c.(97-99)Ctg>Atg	p.L33M		NM_016095.2	NP_057179.1	Q9Y248	PSF2_HUMAN	GINS complex subunit 2 (Psf2 homolog)	33					DNA strand elongation involved in DNA replication|S phase of mitotic cell cycle	nucleoplasm	protein binding			endometrium(2)|large_intestine(2)|lung(2)	6						AAAGGCCCCAGGTCCCCCTGC	0.473													6	43					8.12818e-05	8.94031e-05	1	1	0	T	85721174	G	T	85721174	3	4	81	1	0	0	0	0	1	0	0	0	6430	991	35	4	476	4	GINS2	16	85721174	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	599254	85721174	4633579	11866	15482											
IRF8	3394	broad.mit.edu	37	16	85936747	85936747	+	Silent	SNP	C	C	T	rs150193781		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:85936747C>T	ENST00000268638.5	+	2	548	c.126C>T	c.(124-126)caC>caT	p.H42H	IRF8_ENST00000563180.1_Silent_p.H42H	NM_002163.2	NP_002154.1	Q02556	IRF8_HUMAN	interferon regulatory factor 8	42					interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	nucleus	DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	24		Prostate(104;0.0771)				CTTGGAAACACGCTGGCAAGC	0.507													10	42					0	0	1	0	0	T	85936747	C	T	85936747	2	4	81	1	0	0	0	0	0	0	0	1	7880	535	19	1		1	IRF8	16	85936747	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	215573	85936747	4418006	11867	15483											
IRF8	3394	broad.mit.edu	37	16	85942614	85942614	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:85942614G>T	ENST00000268638.5	+	3	615	c.193G>T	c.(193-195)Ggg>Tgg	p.G65W	IRF8_ENST00000563180.1_Missense_Mutation_p.G65W	NM_002163.2	NP_002154.1	Q02556	IRF8_HUMAN	interferon regulatory factor 8	65					interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	nucleus	DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	24		Prostate(104;0.0771)				AGTTTTTAAAGGGAAGTTTAA	0.473													13	51					1.5842e-08	1.88841e-08	1	1	0	T	85942614	G	T	85942614	3	4	81	1	0	0	0	0	1	0	0	0	7880	1000	35	4	199	4	IRF8	16	85942614	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	5867	85942614	4412139	11868	15484											
IRF8	3394	broad.mit.edu	37	16	85942776	85942776	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:85942776A>C	ENST00000268638.5	+	3	777	c.355A>C	c.(355-357)Aaa>Caa	p.K119Q	IRF8_ENST00000563180.1_Missense_Mutation_p.K119Q	NM_002163.2	NP_002154.1	Q02556	IRF8_HUMAN	interferon regulatory factor 8	119					interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	nucleus	DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	24		Prostate(104;0.0771)				GGAAGAGCAAAAATGTAACTA	0.493													3	28					0	0	1	0	0	C	85942776	A	C	85942776	3	2	81	1	0	0	0	0	1	0	0	0	7880	15	1	5	361	5	IRF8	16	85942776	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	162	85942776	4411977	11869	15485											
IRF8	3394	broad.mit.edu	37	16	85953808	85953808	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:85953808G>A	ENST00000268638.5	+	8	1504	c.1082G>A	c.(1081-1083)cGc>cAc	p.R361H	IRF8_ENST00000562492.1_Missense_Mutation_p.R157H	NM_002163.2	NP_002154.1	Q02556	IRF8_HUMAN	interferon regulatory factor 8	361					interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	nucleus	DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	24		Prostate(104;0.0771)				GCCCCCTTGCGCTCCAAACTC	0.502													10	17					0	0	1	0	0	A	85953808	G	A	85953808	3	1	81	1	0	0	0	0	1	0	0	0	7880	1087	38	1	1108	1	IRF8	16	85953808	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	11032	85953808	4400945	11870	15486											
MTHFSD	64779	broad.mit.edu	37	16	86575410	86575410	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:86575410C>A	ENST00000322911.6	-	7	621	c.571G>T	c.(571-573)Gag>Tag	p.E191*	MTHFSD_ENST00000546093.1_Nonsense_Mutation_p.E29*|MTHFSD_ENST00000543303.2_Nonsense_Mutation_p.E191*|MTHFSD_ENST00000381214.5_Nonsense_Mutation_p.E192*|MTHFSD_ENST00000360900.6_Nonsense_Mutation_p.E192*	NM_001159377.1|NM_022764.2	NP_001152849.1|NP_073601.2	Q2M296	MTHSD_HUMAN	methenyltetrahydrofolate synthetase domain containing	192					folic acid-containing compound biosynthetic process		5-formyltetrahydrofolate cyclo-ligase activity|ATP binding|RNA binding			endometrium(1)|large_intestine(3)|lung(6)|skin(1)	11						TCAACAAGCTCTTCAGGGATG	0.587													13	26					1.15088e-07	1.34837e-07	1	1	0	A	86575410	C	A	86575410	4	1	81	1	0	0	0	0	0	1	0	0	9981	922	32	4	585	4	MTHFSD	16	86575410	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	621602	86575410	3779343	11871	15487											
FOXC2	2303	broad.mit.edu	37	16	86600952	86600952	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:86600952G>A	ENST00000320354.4	+	1	96	c.11G>A	c.(10-12)cGc>cAc	p.R4H	RP11-463O9.5_ENST00000563280.1_RNA	NM_005251.2	NP_005242.1	Q99958	FOXC2_HUMAN	forkhead box C2 (MFH-1, mesenchyme forkhead 1)	4					anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|embryonic viscerocranium morphogenesis|insulin receptor signaling pathway|lymphangiogenesis|metanephros development|negative regulation of transcription from RNA polymerase II promoter|neural crest cell fate commitment|Notch signaling pathway|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of cell adhesion mediated by integrin|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of vascular wound healing|regulation of blood vessel size|regulation of organ growth|regulation of sequence-specific DNA binding transcription factor activity|somitogenesis|ureteric bud development|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	transcription factor complex	chromatin DNA binding|DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	15						ATGCAGGCGCGCTACTCCGTG	0.721									Late-onset Hereditary Lymphedema				14	17					0	0	1	0	0	A	86600952	G	A	86600952	3	1	81	1	0	0	0	0	1	0	0	0	6028	1087	38	1	13	1	FOXC2	16	86600952	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	25542	86600952	3753801	11872	15488											
FOXL1	2300	broad.mit.edu	37	16	86612511	86612511	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:86612511C>T	ENST00000320241.3	+	1	397	c.182C>T	c.(181-183)gCg>gTg	p.A61V		NM_005250.2	NP_005241.1	Q12952	FOXL1_HUMAN	forkhead box L1	61					brain development|camera-type eye development|cartilage development|embryo development|forelimb morphogenesis|heart development|organ morphogenesis|pattern specification process|proteoglycan biosynthetic process|regulation of sequence-specific DNA binding transcription factor activity|regulation of Wnt receptor signaling pathway|visceral mesoderm-endoderm interaction involved in midgut development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(2)|prostate(3)|skin(1)|urinary_tract(1)	15						ATCGCCATGGCGATCCAGGAC	0.672													25	30					0	0	1	0	0	T	86612511	C	T	86612511	3	4	81	1	0	0	0	0	1	0	0	0	6050	768	27	1	184	1	FOXL1	16	86612511	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	11559	86612511	3742242	11873	15489											
FBXO31	79791	broad.mit.edu	37	16	87367807	87367807	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:87367807C>T	ENST00000311635.7	-	8	1094	c.1082G>A	c.(1081-1083)cGc>cAc	p.R361H	RP11-178L8.4_ENST00000568879.1_Missense_Mutation_p.A25T	NM_001282683.1|NM_024735.3	NP_001269612.1|NP_079011.3	Q5XUX0	FBX31_HUMAN	F-box protein 31	361					cell cycle|cyclin catabolic process|mitotic cell cycle G1/S transition DNA damage checkpoint|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	SCF ubiquitin ligase complex	cyclin binding	p.R361H(2)|p.R189H(2)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	17				BRCA - Breast invasive adenocarcinoma(80;0.0272)		ATTGAAGTTGCGCTGGTTCTC	0.682													40	40					0	0	1	0	0	T	87367807	C	T	87367807	3	4	81	1	0	0	0	0	1	0	0	0	5774	768	27	1	545	1	FBXO31	16	87367807	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	755296	87367807	2986946	11874	15490											
FBXO31	79791	broad.mit.edu	37	16	87369043	87369043	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:87369043C>T	ENST00000311635.7	-	7	875	c.863G>A	c.(862-864)cGc>cAc	p.R288H		NM_001282683.1|NM_024735.3	NP_001269612.1|NP_079011.3	Q5XUX0	FBX31_HUMAN	F-box protein 31	288					cell cycle|cyclin catabolic process|mitotic cell cycle G1/S transition DNA damage checkpoint|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	SCF ubiquitin ligase complex	cyclin binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	17				BRCA - Breast invasive adenocarcinoma(80;0.0272)		CAGGTAGATGCGGCGGTAGGT	0.637													7	17					0	0	1	0	0	T	87369043	C	T	87369043	3	4	81	1	0	0	0	0	1	0	0	0	5774	768	27	1	768	1	FBXO31	16	87369043	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1236	87369043	2985710	11875	15491											
CA5A	763	broad.mit.edu	37	16	87921777	87921777	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:87921777G>T	ENST00000309893.2	-	7	941	c.876C>A	c.(874-876)gtC>gtA	p.V292V		NM_001739.1	NP_001730.1	P35218	CAH5A_HUMAN	carbonic anhydrase VA, mitochondrial	292					one-carbon metabolic process	mitochondrial matrix	carbonate dehydratase activity|zinc ion binding			large_intestine(4)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	16				BRCA - Breast invasive adenocarcinoma(80;0.0513)		AGGACGCCCAGACCTTCCGGT	0.488													5	59					0.000602214	0.000646338	1	1	0	T	87921777	G	T	87921777	2	4	81	1	0	0	0	0	0	0	0	1	2537	929	33	4		4	CA5A	16	87921777	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	552734	87921777	2432976	11876	15492											
CA5A	763	broad.mit.edu	37	16	87969994	87969994	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:87969994G>A	ENST00000309893.2	-	1	128	c.63C>T	c.(61-63)gcC>gcT	p.A21A	CA5A_ENST00000568801.1_5'UTR	NM_001739.1	NP_001730.1	P35218	CAH5A_HUMAN	carbonic anhydrase VA, mitochondrial	21					one-carbon metabolic process	mitochondrial matrix	carbonate dehydratase activity|zinc ion binding			large_intestine(4)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	16				BRCA - Breast invasive adenocarcinoma(80;0.0513)		TCCAGAGAGGGGCCCACATCT	0.522													27	57					0	0	1	0	0	A	87969994	G	A	87969994	2	1	81	1	0	0	0	0	0	0	0	1	2537	1219	43	2		2	CA5A	16	87969994	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	48217	87969994	2384759	11877	15493											
BANP	54971	broad.mit.edu	37	16	88066718	88066718	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:88066718C>T	ENST00000393207.1	+	9	1264	c.1043C>T	c.(1042-1044)cCg>cTg	p.P348L	BANP_ENST00000479780.2_Missense_Mutation_p.P317L|BANP_ENST00000355022.4_Missense_Mutation_p.P317L|BANP_ENST00000286122.7_Missense_Mutation_p.P348L|BANP_ENST00000538234.1_Missense_Mutation_p.P356L|BANP_ENST00000355163.5_Missense_Mutation_p.P323L|BANP_ENST00000393208.2_Missense_Mutation_p.P317L	NM_001173543.1	NP_001167014.1	Q8N9N5	BANP_HUMAN	BTG3 associated nuclear protein	348	DNA-binding (By similarity).|Necessary and sufficient for TP53 activation (By similarity).				cell cycle|chromatin modification|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.P317L(1)		NS(1)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)	12				BRCA - Breast invasive adenocarcinoma(80;0.00551)		CCCACAGAGCCGATGATGAGC	0.652													3	14					0	0	1	0	0	T	88066718	C	T	88066718	3	4	81	1	0	0	0	0	1	0	0	0	1308	652	23	1	1115	1	BANP	16	88066718	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	96724	88066718	2288035	11878	15494											
ZFPM1	161882	broad.mit.edu	37	16	88598606	88598606	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:88598606C>T	ENST00000319555.3	+	7	1231	c.909C>T	c.(907-909)agC>agT	p.S303S		NM_153813.2	NP_722520.2	Q8IX07	FOG1_HUMAN	zinc finger protein, FOG family member 1	303					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	DNA binding|transcription factor binding|zinc ion binding			central_nervous_system(1)|ovary(2)|urinary_tract(1)	4				BRCA - Breast invasive adenocarcinoma(80;0.0478)		GCTGCCCCAGCGCCAGCTCCC	0.716													16	18					0	0	1	0	0	T	88598606	C	T	88598606	2	4	81	1	0	0	0	0	0	0	0	1	17715	767	27	1		1	ZFPM1	16	88598606	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	531888	88598606	1756147	11879	15495											
IL17C	27189	broad.mit.edu	37	16	88705694	88705694	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:88705694C>T	ENST00000244241.4	+	2	361	c.312C>T	c.(310-312)cgC>cgT	p.R104R		NM_013278.3	NP_037410.1	Q9P0M4	IL17C_HUMAN	interleukin 17C	104					cell surface receptor linked signaling pathway|cell-cell signaling|inflammatory response	extracellular space|soluble fraction	cytokine activity			large_intestine(1)|lung(1)	2				BRCA - Breast invasive adenocarcinoma(80;0.0477)		CCCACCAGCGCTCCATCTCAC	0.697													3	25					0	0	1	0	0	T	88705694	C	T	88705694	2	4	81	1	0	0	0	0	0	0	0	1	7680	784	28	2		2	IL17C	16	88705694	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	107088	88705694	1649059	11880	15496											
MVD	4597	broad.mit.edu	37	16	88721165	88721165	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:88721165G>A	ENST00000301012.3	-	8	977	c.948C>T	c.(946-948)gaC>gaT	p.D316D		NM_002461.1	NP_002452.1	P53602	MVD1_HUMAN	mevalonate (diphospho) decarboxylase	316					cholesterol biosynthetic process|positive regulation of cell proliferation	cytosol	ATP binding|diphosphomevalonate decarboxylase activity|Hsp70 protein binding|kinase activity|protein homodimerization activity			endometrium(3)|large_intestine(1)|lung(7)|ovary(1)	12				BRCA - Breast invasive adenocarcinoma(80;0.0478)		CCACAGTGTCGTCCAGGGTGA	0.612													5	34					0	0	1	0	0	A	88721165	G	A	88721165	2	1	81	1	0	0	0	0	0	0	0	1	10042	1136	40	1		1	MVD	16	88721165	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	15471	88721165	1633588	11881	15497											
MVD	4597	broad.mit.edu	37	16	88723931	88723931	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:88723931G>T	ENST00000301012.3	-	4	345	c.316C>A	c.(316-318)Ctc>Atc	p.L106I	MVD_ENST00000568709.1_5'UTR	NM_002461.1	NP_002452.1	P53602	MVD1_HUMAN	mevalonate (diphospho) decarboxylase	106					cholesterol biosynthetic process|positive regulation of cell proliferation	cytosol	ATP binding|diphosphomevalonate decarboxylase activity|Hsp70 protein binding|kinase activity|protein homodimerization activity			endometrium(3)|large_intestine(1)|lung(7)|ovary(1)	12				BRCA - Breast invasive adenocarcinoma(80;0.0478)		TTGCAGCTGAGGCTGGAGGGC	0.677													13	19					4.36969e-10	5.3233e-10	1	1	0	T	88723931	G	T	88723931	3	4	81	1	0	0	0	0	1	0	0	0	10042	1000	35	4	914	4	MVD	16	88723931	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2766	88723931	1630822	11882	15498											
MVD	4597	broad.mit.edu	37	16	88725119	88725119	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:88725119C>T	ENST00000301012.3	-	2	109	c.80G>A	c.(79-81)cGc>cAc	p.R27H	MVD_ENST00000568709.1_5'UTR	NM_002461.1	NP_002452.1	P53602	MVD1_HUMAN	mevalonate (diphospho) decarboxylase	27					cholesterol biosynthetic process|positive regulation of cell proliferation	cytosol	ATP binding|diphosphomevalonate decarboxylase activity|Hsp70 protein binding|kinase activity|protein homodimerization activity			endometrium(3)|large_intestine(1)|lung(7)|ovary(1)	12				BRCA - Breast invasive adenocarcinoma(80;0.0478)		CTCTTCATCGCGCTTGCCCCC	0.637													4	8					0	0	1	0	0	T	88725119	C	T	88725119	3	4	81	1	0	0	0	0	1	0	0	0	10042	768	27	1	1158	1	MVD	16	88725119	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1188	88725119	1629634	11883	15499											
CTU2	348180	broad.mit.edu	37	16	88776649	88776649	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:88776649delG	ENST00000567949.1	+	4	250	c.241delG	c.(241-243)gggfs	p.G82fs	CTU2_ENST00000312060.5_Frame_Shift_Del_p.G82fs|CTU2_ENST00000378384.3_5'UTR|CTU2_ENST00000453996.2_Frame_Shift_Del_p.G82fs			Q2VPK5	CTU2_HUMAN	cytosolic thiouridylase subunit 2 homolog (S. pombe)	82					tRNA thio-modification|tRNA wobble uridine modification	cytoplasm|protein complex|soluble fraction	protein binding			NS(1)|breast(1)|endometrium(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	11						GGCGTGGTCTGGGGGGCCTTC	0.637													49	75	---	---	---	---						-	88776649	G	-	88776649	7	5	81	1	0	1	0	1	0	0	0	0	4071	1348	47	0	255	0	CTU2	16	88776649	Frame_Shift_Del	DEL	G	TCGA-DU-6392-01A-11D-1705-08	51530	88776649	1578104	11884	15500											
GALNS	2588	broad.mit.edu	37	16	88901652	88901652	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:88901652G>A	ENST00000268695.5	-	8	955	c.867C>T	c.(865-867)aaC>aaT	p.N289N	GALNS_ENST00000542788.1_Silent_p.N214N	NM_000512.4	NP_000503.1	P34059	GALNS_HUMAN	galactosamine (N-acetyl)-6-sulfate sulfatase	289						lysosome	metal ion binding|N-acetylgalactosamine-4-sulfatase activity|N-acetylgalactosamine-6-sulfatase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(8)	22				BRCA - Breast invasive adenocarcinoma(80;0.0496)	Hyaluronidase(DB00070)	GGGCAGCGCCGTTGTCCGACG	0.602													6	10					0	0	1	0	0	A	88901652	G	A	88901652	2	1	81	1	0	0	0	0	0	0	0	1	6246	1136	40	1		1	GALNS	16	88901652	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	125003	88901652	1453101	11885	15501											
CBFA2T3	863	broad.mit.edu	37	16	88967912	88967912	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:88967912G>A	ENST00000268679.4	-	2	700	c.304C>T	c.(304-306)Cat>Tat	p.H102Y	CBFA2T3_ENST00000327483.5_Splice_Site_p.L41L|CBFA2T3_ENST00000436887.2_Splice_Site_p.L102L|CBFA2T3_ENST00000448839.1_Intron|CBFA2T3_ENST00000360302.2_Splice_Site_p.L41L	NM_005187.5	NP_005178.4	O75081	MTG16_HUMAN	core-binding factor, runt domain, alpha subunit 2; translocated to, 3	102	Mediates interaction with PDE7A (in isoform 2).|Mediates localization to the nucleus (By similarity).|Required for nucleolar targeting (in isoform 1).				cell proliferation|granulocyte differentiation	Golgi membrane|nucleolus|nucleoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17				BRCA - Breast invasive adenocarcinoma(80;0.0275)		GGCTACTTACGTGTGTGTGGC	0.682			T	RUNX1	AML								17	17					0	0	1	0	0	A	88967912	G	A	88967912	5	1	81	1	0	0	0	0	0	0	1	0	2716	1159	40	1	1701	1	CBFA2T3	16	88967912	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	66260	88967912	1386841	11886	15502											
ANKRD11	29123	broad.mit.edu	37	16	89347194	89347194	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:89347194G>A	ENST00000301030.4	-	9	6216	c.5756C>T	c.(5755-5757)gCg>gTg	p.A1919V	ANKRD11_ENST00000378330.2_Missense_Mutation_p.A1919V	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	1919	Pro-rich.					nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		GGCGGCCGTCGCCTGCTGGTC	0.677													15	31					0	0	1	0	0	A	89347194	G	A	89347194	3	1	81	1	0	0	0	0	1	0	0	0	635	1087	38	1	2255	1	ANKRD11	16	89347194	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	379282	89347194	1007559	11887	15503											
ANKRD11	29123	broad.mit.edu	37	16	89349882	89349882	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:89349882G>A	ENST00000301030.4	-	9	3528	c.3068C>T	c.(3067-3069)aCa>aTa	p.T1023I	ANKRD11_ENST00000378330.2_Missense_Mutation_p.T1023I	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	1023	Lys-rich.					nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		TTCTGGTTTTGTCTTCTCCTT	0.463													61	70					0	0	1	0	0	A	89349882	G	A	89349882	3	1	81	1	0	0	0	0	1	0	0	0	635	1377	48	2	4943	2	ANKRD11	16	89349882	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2688	89349882	1004871	11888	15504											
ANKRD11	29123	broad.mit.edu	37	16	89350202	89350202	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:89350202G>T	ENST00000301030.4	-	9	3208	c.2748C>A	c.(2746-2748)aaC>aaA	p.N916K	ANKRD11_ENST00000378330.2_Missense_Mutation_p.N916K	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	916	Lys-rich.					nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		TCTTCTCAGAGTTTTTATCCA	0.552													39	66					1.47244e-24	1.94452e-24	1	1	0	T	89350202	G	T	89350202	3	4	81	1	0	0	0	0	1	0	0	0	635	1020	36	4	5263	4	ANKRD11	16	89350202	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	320	89350202	1004551	11889	15505											
ANKRD11	29123	broad.mit.edu	37	16	89350925	89350925	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:89350925C>A	ENST00000301030.4	-	9	2485	c.2025G>T	c.(2023-2025)gaG>gaT	p.E675D	ANKRD11_ENST00000378330.2_Missense_Mutation_p.E675D	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	675	Lys-rich.					nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		AAAGATCATTCTCTAACAGTA	0.368													15	219					6.31663e-08	7.44777e-08	1	1	0	A	89350925	C	A	89350925	3	1	81	1	0	0	0	0	1	0	0	0	635	912	32	4	5986	4	ANKRD11	16	89350925	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	723	89350925	1003828	11890	15506											
ANKRD11	29123	broad.mit.edu	37	16	89354940	89354940	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:89354940T>C	ENST00000301030.4	-	7	1200	c.740A>G	c.(739-741)tAc>tGc	p.Y247C	ANKRD11_ENST00000378330.2_Missense_Mutation_p.Y247C	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	247						nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		GCCAACCTTGTAGTGCCCGTT	0.592													17	26					0	0	1	0	0	C	89354940	T	C	89354940	3	2	81	1	0	0	0	0	1	0	0	0	635	1638	57	3	7279	3	ANKRD11	16	89354940	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	4015	89354940	999813	11891	15507											
SPG7	6687	broad.mit.edu	37	16	89579416	89579416	+	Missense_Mutation	SNP	C	C	T	rs149474131		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:89579416C>T	ENST00000268704.2	+	3	362	c.347C>T	c.(346-348)tCg>tTg	p.S116L	SPG7_ENST00000341316.2_Missense_Mutation_p.S116L	NM_003119.2	NP_003110.1	Q9UQ90	SPG7_HUMAN	spastic paraplegia 7 (pure and complicated autosomal recessive)	116					cell death|nervous system development|protein catabolic process|proteolysis	integral to membrane|mitochondrial membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|urinary_tract(1)	20		all_hematologic(23;0.00824)|Colorectal(91;0.102)		all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015)		aaggataagtcgaaggggaag	0.393													8	30					0	0	1	0	0	T	89579416	C	T	89579416	3	4	81	1	0	0	0	0	1	0	0	0	15100	893	31	1	357	1	SPG7	16	89579416	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	224476	89579416	775337	11892	15508											
SPG7	6687	broad.mit.edu	37	16	89598878	89598878	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:89598878C>T	ENST00000268704.2	+	9	1173	c.1158C>T	c.(1156-1158)ggC>ggT	p.G386G	SPG7_ENST00000341316.2_Silent_p.G386G	NM_003119.2	NP_003110.1	Q9UQ90	SPG7_HUMAN	spastic paraplegia 7 (pure and complicated autosomal recessive)	386					cell death|nervous system development|protein catabolic process|proteolysis	integral to membrane|mitochondrial membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|urinary_tract(1)	20		all_hematologic(23;0.00824)|Colorectal(91;0.102)		all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015)		CAGGCCTCGGCGCTGCCCGTG	0.577													23	45					0	0	1	0	0	T	89598878	C	T	89598878	2	4	81	1	0	0	0	0	0	0	0	1	15100	755	27	1		1	SPG7	16	89598878	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	19462	89598878	755875	11893	15509											
SPG7	6687	broad.mit.edu	37	16	89619481	89619481	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:89619481G>A	ENST00000268704.2	+	14	1889	c.1874G>A	c.(1873-1875)cGg>cAg	p.R625Q		NM_003119.2	NP_003110.1	Q9UQ90	SPG7_HUMAN	spastic paraplegia 7 (pure and complicated autosomal recessive)	625					cell death|nervous system development|protein catabolic process|proteolysis	integral to membrane|mitochondrial membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|urinary_tract(1)	20		all_hematologic(23;0.00824)|Colorectal(91;0.102)		all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015)		CTGTTTGAGCGGATGTGCATG	0.627													6	14					0	0	1	0	0	A	89619481	G	A	89619481	3	1	81	1	0	0	0	0	1	0	0	0	15100	1116	39	1	2078	1	SPG7	16	89619481	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	20603	89619481	735272	11894	15510											
CPNE7	27132	broad.mit.edu	37	16	89655141	89655141	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:89655141A>G	ENST00000268720.5	+	12	1341	c.1211A>G	c.(1210-1212)tAc>tGc	p.Y404C	CPNE7_ENST00000319518.8_Missense_Mutation_p.Y329C	NM_014427.4	NP_055242.1	Q9UBL6	CPNE7_HUMAN	copine VII	404	VWFA.				lipid metabolic process		transporter activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(2)	17		all_hematologic(23;0.0748)		all cancers(4;3.63e-08)|OV - Ovarian serous cystadenocarcinoma(4;1.7e-06)|BRCA - Breast invasive adenocarcinoma(80;0.0147)		TCCCTGCACTACATCAACCCC	0.647													9	27					0	0	1	0	0	G	89655141	A	G	89655141	3	3	81	1	0	0	0	0	1	0	0	0	3840	391	14	3	1257	3	CPNE7	16	89655141	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	35660	89655141	699612	11895	15511											
CHMP1A	5119	broad.mit.edu	37	16	89712451	89712451	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:89712451C>T	ENST00000253475.5	-	6	726	c.594G>A	c.(592-594)ccG>ccA	p.P198P	CHMP1A_ENST00000397901.3_3'UTR|CHMP1A_ENST00000550102.1_3'UTR|CHMP1A_ENST00000535997.2_3'UTR	NM_001083314.2	NP_001076783.1	Q9HD42	CHM1A_HUMAN	charged multivesicular body protein 1A	0					cell division|gene silencing|mitotic chromosome condensation|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription by glucose|protein transport|transcription, DNA-dependent|vesicle-mediated transport	condensed nuclear chromosome|early endosome|endomembrane system|endosome membrane|microtubule organizing center|nuclear matrix	metallopeptidase activity|protein domain specific binding|zinc ion binding			endometrium(1)|large_intestine(1)|ovary(1)	3		all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.048)		GGGGCAGAGGCGGTGCACACC	0.687													16	18					0	0	1	0	0	T	89712451	C	T	89712451	2	4	81	1	0	0	0	0	0	0	0	1	3374	755	27	1		1	CHMP1A	16	89712451	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	57310	89712451	642302	11896	15512											
SPATA2L	124044	broad.mit.edu	37	16	89763869	89763869	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:89763869G>A	ENST00000289805.5	-	3	1216	c.1148C>T	c.(1147-1149)gCa>gTa	p.A383V	SPATA2L_ENST00000335360.7_Intron	NM_152339.3	NP_689552.2	Q8IUW3	SPA2L_HUMAN	spermatogenesis associated 2-like	383										breast(1)|cervix(1)|endometrium(1)|lung(2)|skin(1)	6		Lung NSC(15;0.00043)|all_lung(18;0.000665)|all_hematologic(23;0.0355)		BRCA - Breast invasive adenocarcinoma(80;0.0272)		GGGCAGGGCTGCACAGTGGGC	0.697													14	16					0	0	1	0	0	A	89763869	G	A	89763869	3	1	81	1	0	0	0	0	1	0	0	0	15065	1319	46	2	130	2	SPATA2L	16	89763869	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	51418	89763869	590884	11897	15513											
SPATA2L	124044	broad.mit.edu	37	16	89764095	89764095	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:89764095A>G	ENST00000289805.5	-	3	990	c.922T>C	c.(922-924)Tcc>Ccc	p.S308P	SPATA2L_ENST00000335360.7_Intron	NM_152339.3	NP_689552.2	Q8IUW3	SPA2L_HUMAN	spermatogenesis associated 2-like	308										breast(1)|cervix(1)|endometrium(1)|lung(2)|skin(1)	6		Lung NSC(15;0.00043)|all_lung(18;0.000665)|all_hematologic(23;0.0355)		BRCA - Breast invasive adenocarcinoma(80;0.0272)		GAGAGGAAGGAGAAGGCGGAA	0.692													3	27					0	0	1	0	0	G	89764095	A	G	89764095	3	3	81	1	0	0	0	0	1	0	0	0	15065	304	11	3	356	3	SPATA2L	16	89764095	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	226	89764095	590658	11898	15514											
SPATA2L	124044	broad.mit.edu	37	16	89764615	89764615	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:89764615G>A	ENST00000289805.5	-	3	470	c.402C>T	c.(400-402)agC>agT	p.S134S	SPATA2L_ENST00000335360.7_Silent_p.S134S	NM_152339.3	NP_689552.2	Q8IUW3	SPA2L_HUMAN	spermatogenesis associated 2-like	134										breast(1)|cervix(1)|endometrium(1)|lung(2)|skin(1)	6		Lung NSC(15;0.00043)|all_lung(18;0.000665)|all_hematologic(23;0.0355)		BRCA - Breast invasive adenocarcinoma(80;0.0272)		TGAGCCGATGGCTGTCTCTGC	0.647													33	100					0	0	1	0	0	A	89764615	G	A	89764615	2	1	81	1	0	0	0	0	0	0	0	1	15065	1194	42	2		2	SPATA2L	16	89764615	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	520	89764615	590138	11899	15515											
ZNF276	92822	broad.mit.edu	37	16	89795646	89795646	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:89795646C>T	ENST00000289816.5	+	6	1176	c.864C>T	c.(862-864)gaC>gaT	p.D288D	ZNF276_ENST00000568064.1_Silent_p.D271D|ZNF276_ENST00000443381.2_Silent_p.D363D|ZNF276_ENST00000446326.2_Silent_p.D149D	NM_152287.3	NP_689500.2	Q8N554	ZN276_HUMAN	zinc finger protein 276	363					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)	14		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		TTCCTAGAGACGTCTTGAGTG	0.512													19	38					0	0	1	0	0	T	89795646	C	T	89795646	2	4	81	1	0	0	0	0	0	0	0	1	17869	535	19	1		1	ZNF276	16	89795646	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	31031	89795646	559107	11900	15516											
ZNF276	92822	broad.mit.edu	37	16	89799811	89799811	+	Missense_Mutation	SNP	G	G	A	rs148047906		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:89799811G>A	ENST00000289816.5	+	7	1358	c.1046G>A	c.(1045-1047)cGt>cAt	p.R349H	ZNF276_ENST00000568064.1_Missense_Mutation_p.R332H|ZNF276_ENST00000443381.2_Missense_Mutation_p.R424H|ZNF276_ENST00000446326.2_Missense_Mutation_p.R210H	NM_152287.3	NP_689500.2	Q8N554	ZN276_HUMAN	zinc finger protein 276	424					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)	14		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		AAGAAGCTTCGTTGTGAGAGG	0.562													8	151					0	0	1	0	0	A	89799811	G	A	89799811	3	1	81	1	0	0	0	0	1	0	0	0	17869	1145	40	1	1297	1	ZNF276	16	89799811	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	4165	89799811	554942	11901	15517											
ZNF276	92822	broad.mit.edu	37	16	89800422	89800422	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:89800422C>T	ENST00000289816.5	+	9	1537	c.1225C>T	c.(1225-1227)Cgc>Tgc	p.R409C	ZNF276_ENST00000568064.1_Missense_Mutation_p.R392C|ZNF276_ENST00000443381.2_Missense_Mutation_p.R484C|ZNF276_ENST00000446326.2_Missense_Mutation_p.R270C	NM_152287.3	NP_689500.2	Q8N554	ZN276_HUMAN	zinc finger protein 276	484					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)	14		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		CTACCTGCAGCGCCACGTGAA	0.622													25	31					0	0	1	0	0	T	89800422	C	T	89800422	3	4	81	1	0	0	0	0	1	0	0	0	17869	768	27	1	1484	1	ZNF276	16	89800422	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	611	89800422	554331	11902	15518											
FANCA	2175	broad.mit.edu	37	16	89816211	89816211	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:89816211G>A	ENST00000389301.3	-	32	3196	c.3166C>T	c.(3166-3168)Ctc>Ttc	p.L1056F	FANCA_ENST00000568369.1_Missense_Mutation_p.L1056F	NM_000135.2	NP_000126.2	O15360	FANCA_HUMAN	Fanconi anemia, complementation group A	1056					DNA repair|protein complex assembly	cytoplasm|nucleoplasm	protein binding			breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3)	47		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.028)		AGAGCCTGGAGCCGTCTGCGG	0.587			"D, Mis, N, F, S"			"AML, leukemia"		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				7	40					0	0	1	0	0	A	89816211	G	A	89816211	3	1	81	1	0	0	0	0	1	0	0	0	5695	971	34	2	1249	2	FANCA	16	89816211	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	15789	89816211	538542	11903	15519											
FANCA	2175	broad.mit.edu	37	16	89831452	89831452	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:89831452A>G	ENST00000389301.3	-	28	2654	c.2624T>C	c.(2623-2625)tTg>tCg	p.L875S	FANCA_ENST00000568369.1_Missense_Mutation_p.L875S	NM_000135.2	NP_000126.2	O15360	FANCA_HUMAN	Fanconi anemia, complementation group A	875					DNA repair|protein complex assembly	cytoplasm|nucleoplasm	protein binding			breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3)	47		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.028)		CTCTGAGAACAATCTGAACAT	0.537			"D, Mis, N, F, S"			"AML, leukemia"		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				23	42					0	0	1	0	0	G	89831452	A	G	89831452	3	3	81	1	0	0	0	0	1	0	0	0	5695	131	5	3	1807	3	FANCA	16	89831452	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	15241	89831452	523301	11904	15520											
FANCA	2175	broad.mit.edu	37	16	89849305	89849305	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:89849305G>T	ENST00000389301.3	-	17	1618	c.1588C>A	c.(1588-1590)Ctc>Atc	p.L530I	FANCA_ENST00000568369.1_Missense_Mutation_p.L530I	NM_000135.2	NP_000126.2	O15360	FANCA_HUMAN	Fanconi anemia, complementation group A	530					DNA repair|protein complex assembly	cytoplasm|nucleoplasm	protein binding			breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3)	47		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.028)		TCCTCGTAGAGTCCCATGTTT	0.502			"D, Mis, N, F, S"			"AML, leukemia"		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				3	33					0.014758	0.0152304	1	1	0	T	89849305	G	T	89849305	3	4	81	1	0	0	0	0	1	0	0	0	5695	1029	36	4	2887	4	FANCA	16	89849305	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	17853	89849305	505448	11905	15521											
SPIRE2	84501	broad.mit.edu	37	16	89929992	89929992	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:89929992C>T	ENST00000378247.3	+	11	1727	c.1684C>T	c.(1684-1686)Ctc>Ttc	p.L562F	SPIRE2_ENST00000393062.2_Missense_Mutation_p.L562F	NM_032451.1	NP_115827.1	Q8WWL2	SPIR2_HUMAN	spire-type actin nucleation factor 2	562					transport	cytoplasm|cytoskeleton	actin binding			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Lung NSC(15;5.15e-06)|all_lung(18;8.38e-06)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0286)		GAACAAGGAGCTCTTCAGCAG	0.622													17	46					0	0	1	0	0	T	89929992	C	T	89929992	3	4	81	1	0	0	0	0	1	0	0	0	15128	797	28	2	1726	2	SPIRE2	16	89929992	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	80687	89929992	424761	11906	15522											
SPIRE2	84501	broad.mit.edu	37	16	89936622	89936622	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:89936622G>A	ENST00000378247.3	+	15	2130	c.2087G>A	c.(2086-2088)cGc>cAc	p.R696H	SPIRE2_ENST00000393062.2_Missense_Mutation_p.R648H	NM_032451.1	NP_115827.1	Q8WWL2	SPIR2_HUMAN	spire-type actin nucleation factor 2	696					transport	cytoplasm|cytoskeleton	actin binding			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Lung NSC(15;5.15e-06)|all_lung(18;8.38e-06)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0286)		ACGCCACGACGCAGTCGCCAG	0.607													4	7					0	0	1	0	0	A	89936622	G	A	89936622	3	1	81	1	0	0	0	0	1	0	0	0	15128	1087	38	1	2145	1	SPIRE2	16	89936622	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	6630	89936622	418131	11907	15523											
TCF25	22980	broad.mit.edu	37	16	89960234	89960234	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:89960234G>A	ENST00000263346.8	+	7	852	c.796G>A	c.(796-798)Gcc>Acc	p.A266T	TCF25_ENST00000263347.7_Missense_Mutation_p.A31T	NM_014972.2	NP_055787.1	Q9BQ70	TCF25_HUMAN	transcription factor 25 (basic helix-loop-helix)	266					heart development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|large_intestine(1)|lung(8)|ovary(3)|skin(1)|urinary_tract(2)	18		all_cancers(9;4.71e-08)|Lung NSC(15;0.000192)|all_lung(18;0.000319)|all_neural(9;0.0122)|all_hematologic(23;0.027)		BRCA - Breast invasive adenocarcinoma(80;0.0288)		GTTCCTGGTGGCCGTGGAGTC	0.602													7	9					0	0	1	0	0	A	89960234	G	A	89960234	3	1	81	1	0	0	0	0	1	0	0	0	15753	1203	42	2	822	2	TCF25	16	89960234	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	23612	89960234	394519	11908	15524											
MC1R	4157	broad.mit.edu	37	16	89985956	89985956	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:89985956T>C	ENST00000555427.1	+	3	2593	c.290T>C	c.(289-291)gTc>gCc	p.V97A	TUBB3_ENST00000556922.1_Missense_Mutation_p.V97A|MC1R_ENST00000555147.1_Missense_Mutation_p.V97A					melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor)											endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	11		all_cancers(9;1.69e-11)|Lung NSC(15;8.94e-06)|all_lung(18;1.39e-05)|all_neural(9;0.00581)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0273)		GAGACGGCCGTCATCCTCCTG	0.632									Melanoma, Familial Clustering of				4	38					0	0	1	0	0	C	89985956	T	C	89985956	3	2	81	1	0	0	0	0	1	0	0	0	9413	1667	58	3	292	3	MC1R	16	89985956	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	25722	89985956	368797	11909	15525											
MC1R	4157	broad.mit.edu	37	16	89986192	89986192	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:89986192A>G	ENST00000555427.1	+	3	2829	c.526A>G	c.(526-528)Agc>Ggc	p.S176G	TUBB3_ENST00000556922.1_Missense_Mutation_p.S176G|MC1R_ENST00000555147.1_Missense_Mutation_p.S176G					melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor)											endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	11		all_cancers(9;1.69e-11)|Lung NSC(15;8.94e-06)|all_lung(18;1.39e-05)|all_neural(9;0.00581)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0273)		TGTCGTCTTCAGCACGCTCTT	0.627									Melanoma, Familial Clustering of				9	47					0	0	1	0	0	G	89986192	A	G	89986192	3	3	81	1	0	0	0	0	1	0	0	0	9413	188	7	3	528	3	MC1R	16	89986192	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	236	89986192	368561	11910	15526											
DEF8	54849	broad.mit.edu	37	16	90025469	90025469	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:90025469C>T	ENST00000563594.1	+	6	1417	c.420C>T	c.(418-420)cgC>cgT	p.R140R	DEF8_ENST00000563795.1_Silent_p.R140R|DEF8_ENST00000563848.1_3'UTR|DEF8_ENST00000268676.7_Silent_p.R201R|DEF8_ENST00000418391.2_Silent_p.R140R|DEF8_ENST00000570182.1_Silent_p.R130R|DEF8_ENST00000569453.1_Silent_p.R140R|DEF8_ENST00000567874.1_Silent_p.R80R	NM_001242818.1|NM_001242819.1	NP_001229747.1|NP_001229748.1	Q6ZN54	DEFI8_HUMAN	differentially expressed in FDCP 8 homolog (mouse)	201					intracellular signal transduction		zinc ion binding			central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	12		all_cancers(9;7.59e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.0019)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0274)		TTGAGCACCGCTTTTACAAGG	0.562													8	123					0	0	1	0	0	T	90025469	C	T	90025469	2	4	81	1	0	0	0	0	0	0	0	1	4410	784	28	2		2	DEF8	16	90025469	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	39277	90025469	329284	11911	15527											
DEF8	54849	broad.mit.edu	37	16	90025579	90025579	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:90025579G>T	ENST00000418391.2	+	6	657	c.530G>T	c.(529-531)aGa>aTa	p.R177I	DEF8_ENST00000563795.1_Intron|DEF8_ENST00000563848.1_Intron|DEF8_ENST00000268676.7_Intron|DEF8_ENST00000570182.1_Intron|DEF8_ENST00000569453.1_Intron|DEF8_ENST00000567874.1_Intron|DEF8_ENST00000563594.1_Intron	NM_001242821.1|NM_001242822.1|NM_017702.3	NP_001229750.1|NP_001229751.1|NP_060172.1	Q6ZN54	DEFI8_HUMAN	differentially expressed in FDCP 8 homolog (mouse)	0					intracellular signal transduction		zinc ion binding			central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	12		all_cancers(9;7.59e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.0019)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0274)		CCGAGACCCAGACGAGGAGTG	0.557													15	21					1.3612e-06	1.56842e-06	1	1	0	T	90025579	G	T	90025579	3	4	81	1	0	0	0	0	1	0	0	0	4410	942	33	4	731	4	DEF8	16	90025579	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	110	90025579	329174	11912	15528											
CENPBD1	92806	broad.mit.edu	37	16	90038294	90038294	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:90038294G>A	ENST00000314994.3	-	1	648	c.37C>T	c.(37-39)Cct>Tct	p.P13S	RP11-566K11.5_ENST00000565150.1_RNA|CENPBD1_ENST00000567035.1_Intron	NM_145039.3	NP_659476.2	B2RD01	CENP1_HUMAN	CENPB DNA-binding domains containing 1	13	HTH psq-type.				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding			endometrium(1)|lung(2)	3						TTGGCACTAGGGATGACAGTT	0.502													12	18					0	0	1	0	0	A	90038294	G	A	90038294	3	1	81	1	0	0	0	0	1	0	0	0	3250	1232	43	2	530	2	CENPBD1	16	90038294	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	12715	90038294	316459	11913	15529											
FAM57A	79850	broad.mit.edu	37	17	641146	641146	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:641146C>T	ENST00000308278.8	+	3	503	c.267C>T	c.(265-267)taC>taT	p.Y89Y	FAM57A_ENST00000301324.8_Silent_p.Y89Y|FAM57A_ENST00000572018.1_Intron	NM_024792.1	NP_079068.1	Q8TBR7	FA57A_HUMAN	family with sequence similarity 57, member A	89	TLC.					integral to membrane|plasma membrane				cervix(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(2)|urinary_tract(2)	10				UCEC - Uterine corpus endometrioid carcinoma (25;0.0217)		ATGACTCGTACGCCATGTACC	0.502													45	96					0	0	1	0	0	T	641146	C	T	641146	2	4	81	1	0	0	0	0	0	0	0	1	5623	547	19	1		1	FAM57A	17	641146	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08		641146	80554064	11914	15530											
GEMIN4	50628	broad.mit.edu	37	17	649630	649630	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:649630G>A	ENST00000576778.1	-	1	2961	c.1620C>T	c.(1618-1620)cgC>cgT	p.R540R	GEMIN4_ENST00000319004.5_Silent_p.R551R			P57678	GEMI4_HUMAN	gem (nuclear organelle) associated protein 4	551					rRNA processing|spliceosomal snRNP assembly	Cajal body|cytosol|nucleolus|small nuclear ribonucleoprotein complex|spliceosomal complex	protein binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		Myeloproliferative disorder(207;0.204)		UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		CTATGACCAGGCGGGCCACGG	0.552													8	41					0	0	1	0	0	A	649630	G	A	649630	2	1	81	1	0	0	0	0	0	0	0	1	6372	1190	42	2		2	GEMIN4	17	649630	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	8484	649630	80545580	11915	15531											
GLOD4	51031	broad.mit.edu	37	17	674702	674702	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:674702C>T	ENST00000301329.6	-	5	492		c.e5-1		GLOD4_ENST00000536578.1_Splice_Site|GLOD4_ENST00000301328.5_Splice_Site	NM_016080.3	NP_057164.3	Q9HC38	GLOD4_HUMAN	glyoxalase domain containing 4							mitochondrion				endometrium(1)|large_intestine(1)|prostate(1)	3				UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		aatacaggatctgttgggtaa	0.313													46	65					0	0	1	0	0	T	674702	C	T	674702	5	4	81	1	0	0	0	0	0	0	1	0	6492	927	32	2	510	2	GLOD4	17	674702	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	25072	674702	80520508	11916	15532											
GLOD4	51031	broad.mit.edu	37	17	679034	679034	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:679034A>G	ENST00000301329.6	-	4	472	c.387T>C	c.(385-387)aaT>aaC	p.N129N	GLOD4_ENST00000536578.1_Silent_p.N120N|GLOD4_ENST00000301328.5_Silent_p.N144N	NM_016080.3	NP_057164.3	Q9HC38	GLOD4_HUMAN	glyoxalase domain containing 4	144						mitochondrion				endometrium(1)|large_intestine(1)|prostate(1)	3				UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		GCAGACTGCGATTCTGCAAAT	0.488													12	67					0	0	1	0	0	G	679034	A	G	679034	2	3	81	1	0	0	0	0	0	0	0	1	6492	330	12	3		3	GLOD4	17	679034	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	4332	679034	80516176	11917	15533											
MYO1C	4641	broad.mit.edu	37	17	1380798	1380798	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:1380798C>T	ENST00000359786.5	-	14	1899		c.e14+1		MYO1C_ENST00000575158.1_Splice_Site|MYO1C_ENST00000361007.2_Splice_Site|MYO1C_ENST00000438665.2_Splice_Site|MYO1C_ENST00000545534.2_Splice_Site	NM_001080779.1	NP_001074248.1	O00159	MYO1C_HUMAN	myosin IC						mRNA transport|protein transport|transmembrane transport	basal plasma membrane|cytoplasm|filamentous actin|lateral plasma membrane|nuclear pore|nucleolus|nucleoplasm|stereocilium membrane	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	17				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		GCCCCACTCACGTCAGGAAGT	0.637													8	22					0	0	1	0	0	T	1380798	C	T	1380798	5	4	81	1	0	0	0	0	0	0	1	0	10118	550	19	1	1692	1	MYO1C	17	1380798	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	701764	1380798	79814412	11918	15534											
MYO1C	4641	broad.mit.edu	37	17	1380819	1380819	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:1380819C>T	ENST00000359786.5	-	14	1878	c.1554G>A	c.(1552-1554)aaG>aaA	p.K518K	MYO1C_ENST00000575158.1_Silent_p.K483K|MYO1C_ENST00000361007.2_Silent_p.K483K|MYO1C_ENST00000438665.2_Silent_p.K499K|MYO1C_ENST00000545534.2_Silent_p.K494K	NM_001080779.1	NP_001074248.1	O00159	MYO1C_HUMAN	myosin IC	518	Myosin head-like.				mRNA transport|protein transport|transmembrane transport	basal plasma membrane|cytoplasm|filamentous actin|lateral plasma membrane|nuclear pore|nucleolus|nucleoplasm|stereocilium membrane	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	17				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		GTGGATGGTGCTTGACAGTAT	0.657													16	15					0	0	1	0	0	T	1380819	C	T	1380819	2	4	81	1	0	0	0	0	0	0	0	1	10118	796	28	2		2	MYO1C	17	1380819	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	21	1380819	79814391	11919	15535											
MYO1C	4641	broad.mit.edu	37	17	1387545	1387545	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:1387545C>T	ENST00000359786.5	-	2	452	c.128G>A	c.(127-129)cGt>cAt	p.R43H	MYO1C_ENST00000575158.1_Missense_Mutation_p.R8H|MYO1C_ENST00000361007.2_Missense_Mutation_p.R8H|MYO1C_ENST00000438665.2_Missense_Mutation_p.R24H|MYO1C_ENST00000545534.2_Missense_Mutation_p.R19H	NM_001080779.1	NP_001074248.1	O00159	MYO1C_HUMAN	myosin IC	43	Myosin head-like.				mRNA transport|protein transport|transmembrane transport	basal plasma membrane|cytoplasm|filamentous actin|lateral plasma membrane|nuclear pore|nucleolus|nucleoplasm|stereocilium membrane	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	17				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		CACCCGGTCACGGGCGGTGAG	0.647													8	20					0	0	1	0	0	T	1387545	C	T	1387545	3	4	81	1	0	0	0	0	1	0	0	0	10118	536	19	1	3187	1	MYO1C	17	1387545	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	6726	1387545	79807665	11920	15536											
SLC43A2	124935	broad.mit.edu	37	17	1489322	1489322	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:1489322C>T	ENST00000301335.5	-	10	1190	c.1102G>A	c.(1102-1104)Ggc>Agc	p.G368S	SLC43A2_ENST00000412517.3_Missense_Mutation_p.G231S|SLC43A2_ENST00000382147.4_Missense_Mutation_p.G372S|SLC43A2_ENST00000571650.1_Missense_Mutation_p.G372S	NM_001284498.1|NM_001284499.1	NP_001271427.1|NP_001271428.1	Q8N370	LAT4_HUMAN	solute carrier family 43 (amino acid system L transporter), member 2						cellular nitrogen compound metabolic process|ion transport	integral to membrane|plasma membrane				endometrium(4)|large_intestine(4)|liver(1)|lung(2)|upper_aerodigestive_tract(1)	12				UCEC - Uterine corpus endometrioid carcinoma (25;0.0883)		TGGAGCACGCCGAAGATGGAG	0.647													5	10					0	0	1	0	0	T	1489322	C	T	1489322	3	4	81	1	0	0	0	0	1	0	0	0	14688	652	23	1	627	1	SLC43A2	17	1489322	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	101777	1489322	79705888	11921	15537											
SCARF1	8578	broad.mit.edu	37	17	1538779	1538779	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:1538779G>A	ENST00000263071.4	-	11	1815	c.1766C>T	c.(1765-1767)tCg>tTg	p.S589L	SCARF1_ENST00000348987.3_Missense_Mutation_p.S503L|SCARF1_ENST00000571272.1_3'UTR	NM_003693.2|NM_145350.1	NP_003684.2|NP_663325.1	Q14162	SREC_HUMAN	scavenger receptor class F, member 1	589	Pro/Ser-rich.				cell adhesion|neuron remodeling|positive regulation of axon regeneration|receptor-mediated endocytosis	integral to membrane	low-density lipoprotein particle binding|scavenger receptor activity			cervix(1)|endometrium(3)|kidney(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		GAAGGAGACCGATGGCCGCTT	0.682													6	80					0	0	1	0	0	A	1538779	G	A	1538779	3	1	81	1	0	0	0	0	1	0	0	0	13936	1059	37	1	730	1	SCARF1	17	1538779	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	49457	1538779	79656431	11922	15538											
PRPF8	10594	broad.mit.edu	37	17	1558720	1558720	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:1558720G>T	ENST00000572621.1	-	36	6176	c.5911C>A	c.(5911-5913)Ctg>Atg	p.L1971M	PRPF8_ENST00000304992.6_Missense_Mutation_p.L1971M			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	1971	Involved in interaction with pre-mRNA 5' splice site.					catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		TCGTCAGTCAGAGTGGGCCAG	0.507													21	40					2.4624e-09	2.97042e-09	1	1	0	T	1558720	G	T	1558720	3	4	81	1	0	0	0	0	1	0	0	0	12627	933	33	4	1124	4	PRPF8	17	1558720	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	19941	1558720	79636490	11923	15539											
PRPF8	10594	broad.mit.edu	37	17	1561966	1561966	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:1561966G>A	ENST00000572621.1	-	32	5495	c.5230C>T	c.(5230-5232)Cgt>Tgt	p.R1744C	PRPF8_ENST00000304992.6_Missense_Mutation_p.R1744C			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	1744	Involved in interaction with pre-mRNA 5' splice site.					catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		ATCCGTTCACGTAACACATAC	0.498													18	37					0	0	1	0	0	A	1561966	G	A	1561966	3	1	81	1	0	0	0	0	1	0	0	0	12627	1145	40	1	1821	1	PRPF8	17	1561966	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	3246	1561966	79633244	11924	15540											
PRPF8	10594	broad.mit.edu	37	17	1578972	1578972	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:1578972G>T	ENST00000572621.1	-	18	3079	c.2814C>A	c.(2812-2814)ccC>ccA	p.P938P	PRPF8_ENST00000304992.6_Silent_p.P938P			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	938						catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		GCTTAATCCAGGGTGGGAACA	0.527													106	153					5.93467e-45	7.97925e-45	1	1	0	T	1578972	G	T	1578972	2	4	81	1	0	0	0	0	0	0	0	1	12627	987	35	4		4	PRPF8	17	1578972	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	17006	1578972	79616238	11925	15541											
PRPF8	10594	broad.mit.edu	37	17	1578988	1578988	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:1578988C>T	ENST00000572621.1	-	18	3063	c.2798G>A	c.(2797-2799)cGc>cAc	p.R933H	PRPF8_ENST00000304992.6_Missense_Mutation_p.R933H			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	933						catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		GAACAGGCGGCGCTTGTCGGC	0.512													92	125					0	0	1	0	0	T	1578988	C	T	1578988	3	4	81	1	0	0	0	0	1	0	0	0	12627	768	27	1	4309	1	PRPF8	17	1578988	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	16	1578988	79616222	11926	15542											
PRPF8	10594	broad.mit.edu	37	17	1579960	1579960	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:1579960C>T	ENST00000572621.1	-	15	2492	c.2227G>A	c.(2227-2229)Gtg>Atg	p.V743M	PRPF8_ENST00000304992.6_Missense_Mutation_p.V743M			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	743						catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding	p.V743M(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		TTGGCCTTCACGTATCGAAGG	0.537													21	300					0	0	1	0	0	T	1579960	C	T	1579960	3	4	81	1	0	0	0	0	1	0	0	0	12627	536	19	1	4892	1	PRPF8	17	1579960	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	972	1579960	79615250	11927	15543											
PRPF8	10594	broad.mit.edu	37	17	1584919	1584919	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:1584919C>T	ENST00000572621.1	-	5	984	c.719G>A	c.(718-720)cGc>cAc	p.R240H	PRPF8_ENST00000304992.6_Missense_Mutation_p.R240H			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	240						catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		ATTAGCCAGGCGGTAGAGAGT	0.468													46	93					0	0	1	0	0	T	1584919	C	T	1584919	3	4	81	1	0	0	0	0	1	0	0	0	12627	768	27	1	6440	1	PRPF8	17	1584919	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	4959	1584919	79610291	11928	15544											
WDR81	124997	broad.mit.edu	37	17	1631740	1631740	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:1631740G>A	ENST00000409644.1	+	1	3487	c.3487G>A	c.(3487-3489)Gtg>Atg	p.V1163M	WDR81_ENST00000446363.1_Intron|RP11-961A15.1_ENST00000576540.1_RNA|WDR81_ENST00000309182.5_Missense_Mutation_p.V112M|WDR81_ENST00000419248.1_Intron|WDR81_ENST00000437219.2_Intron	NM_001163809.1	NP_001157281.1	B3KXU1	B3KXU1_HUMAN	WD repeat domain 81	0										cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		ggaCAGCTGCGTGGTGCTAga	0.632													9	10					0	0	1	0	0	A	1631740	G	A	1631740	3	1	81	1	0	0	0	0	1	0	0	0	17390	1145	40	1	3551	1	WDR81	17	1631740	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	46821	1631740	79563470	11929	15545											
WDR81	124997	broad.mit.edu	37	17	1634379	1634379	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:1634379C>A	ENST00000409644.1	+	4	3984	c.3984C>A	c.(3982-3984)gcC>gcA	p.A1328A	WDR81_ENST00000446363.1_5'UTR|RP11-961A15.1_ENST00000576540.1_RNA|WDR81_ENST00000545662.1_Intron|WDR81_ENST00000309182.5_Silent_p.A277A|WDR81_ENST00000419248.1_Silent_p.A101A|WDR81_ENST00000437219.2_Silent_p.A125A	NM_001163809.1	NP_001157281.1	B3KXU1	B3KXU1_HUMAN	WD repeat domain 81	101										cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		CAGGGAGTGCCTCAGGCCCCA	0.677													6	19					0.00198382	0.00209725	1	1	0	A	1634379	C	A	1634379	2	1	81	1	0	0	0	0	0	0	0	1	17390	668	24	4		4	WDR81	17	1634379	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2639	1634379	79560831	11930	15546											
WDR81	124997	broad.mit.edu	37	17	1636912	1636912	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:1636912C>A	ENST00000409644.1	+	7	4581	c.4581C>A	c.(4579-4581)aaC>aaA	p.N1527K	WDR81_ENST00000446363.1_Missense_Mutation_p.N166K|RP11-961A15.1_ENST00000576540.1_RNA|WDR81_ENST00000545662.1_Missense_Mutation_p.N158K|WDR81_ENST00000309182.5_Missense_Mutation_p.N476K|WDR81_ENST00000419248.1_Missense_Mutation_p.N300K|WDR81_ENST00000437219.2_Missense_Mutation_p.N324K	NM_001163809.1	NP_001157281.1	B3KXU1	B3KXU1_HUMAN	WD repeat domain 81	300										cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		GCAGTCGCAACCCTGCCAGCG	0.657													11	66					0.00010058	0.000110448	1	1	0	A	1636912	C	A	1636912	3	1	81	1	0	0	0	0	1	0	0	0	17390	506	18	5	4669	5	WDR81	17	1636912	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2533	1636912	79558298	11931	15547											
WDR81	124997	broad.mit.edu	37	17	1640869	1640869	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:1640869A>G	ENST00000409644.1	+	10	5716	c.5716A>G	c.(5716-5718)Aag>Gag	p.K1906E	WDR81_ENST00000446363.1_Missense_Mutation_p.K545E|RP11-961A15.1_ENST00000576540.1_RNA|WDR81_ENST00000545662.1_Missense_Mutation_p.K537E|WDR81_ENST00000309182.5_Missense_Mutation_p.K855E|WDR81_ENST00000419248.1_Missense_Mutation_p.K679E|WDR81_ENST00000437219.2_Missense_Mutation_p.K703E	NM_001163809.1	NP_001157281.1	B3KXU1	B3KXU1_HUMAN	WD repeat domain 81	679										cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		GGCCACCACGAAGCTCAGCTC	0.627													3	29					0	0	1	0	0	G	1640869	A	G	1640869	3	3	81	1	0	0	0	0	1	0	0	0	17390	247	9	3	5816	3	WDR81	17	1640869	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	3957	1640869	79554341	11932	15548											
SERPINF2	5345	broad.mit.edu	37	17	1657778	1657778	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:1657778C>A	ENST00000324015.3	+	10	1503	c.1426C>A	c.(1426-1428)Ctt>Att	p.L476I	SERPINF2_ENST00000382061.4_Missense_Mutation_p.L476I|SERPINF2_ENST00000450523.2_Missense_Mutation_p.L412I	NM_000934.3	NP_000925.2	P08697	A2AP_HUMAN	serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 2	476					acute-phase response|fibrinolysis|platelet activation|platelet degranulation|regulation of proteolysis	extracellular space|platelet alpha granule lumen	protease binding|serine-type endopeptidase inhibitor activity			breast(2)|endometrium(1)|kidney(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)	Streptokinase(DB00086)	TGACTTAAAACTTGTGCCCCC	0.612													27	54					3.69857e-22	4.85532e-22	1	1	0	A	1657778	C	A	1657778	3	1	81	1	0	0	0	0	1	0	0	0	14169	565	20	4	1470	4	SERPINF2	17	1657778	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	16909	1657778	79537432	11933	15549											
SMYD4	114826	broad.mit.edu	37	17	1703452	1703452	+	Silent	SNP	G	G	A	rs139637633	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:1703452G>A	ENST00000305513.7	-	5	1403	c.1236C>T	c.(1234-1236)tgC>tgT	p.C412C		NM_052928.2	NP_443160.2	Q8IYR2	SMYD4_HUMAN	SET and MYND domain containing 4	412							zinc ion binding			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(5)|stomach(1)	21						CATTAATATCGCATCCAGGAA	0.418													10	143					0	0	1	0	0	A	1703452	G	A	1703452	2	1	81	1	0	0	0	0	0	0	0	1	14878	1079	38	1		1	SMYD4	17	1703452	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	45674	1703452	79491758	11934	15550											
SMYD4	114826	broad.mit.edu	37	17	1731227	1731227	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:1731227G>A	ENST00000305513.7	-	2	229	c.62C>T	c.(61-63)aCg>aTg	p.T21M		NM_052928.2	NP_443160.2	Q8IYR2	SMYD4_HUMAN	SET and MYND domain containing 4	21							zinc ion binding			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(5)|stomach(1)	21						CTGAACAGACGTCGGGAGTGA	0.398													24	36					0	0	1	0	0	A	1731227	G	A	1731227	3	1	81	1	0	0	0	0	1	0	0	0	14878	1145	40	1	2392	1	SMYD4	17	1731227	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	27775	1731227	79463983	11935	15551											
RPA1	6117	broad.mit.edu	37	17	1747248	1747248	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:1747248C>T	ENST00000254719.5	+	3	229	c.119C>T	c.(118-120)cCg>cTg	p.P40L		NM_002945.3	NP_002936.1	P27694	RFA1_HUMAN	replication protein A1, 70kDa	40					cell cycle checkpoint|DNA recombinase assembly|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	actin cytoskeleton|cytoplasm|DNA replication factor A complex|PML body	metal ion binding|protein binding|single-stranded DNA binding			breast(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(2)	10						AATAGTCCGCCGCGTTATCGA	0.458								Nucleotide excision repair (NER)					27	40					0	0	1	0	0	T	1747248	C	T	1747248	3	4	81	1	0	0	0	0	1	0	0	0	13588	652	23	1	129	1	RPA1	17	1747248	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	16021	1747248	79447962	11936	15552											
RPA1	6117	broad.mit.edu	37	17	1747293	1747293	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:1747293G>A	ENST00000254719.5	+	3	273		c.e3+1			NM_002945.3	NP_002936.1	P27694	RFA1_HUMAN	replication protein A1, 70kDa						cell cycle checkpoint|DNA recombinase assembly|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	actin cytoskeleton|cytoplasm|DNA replication factor A complex|PML body	metal ion binding|protein binding|single-stranded DNA binding			breast(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(2)	10						ACTCTATCCTGTGAGTATGGT	0.448								Nucleotide excision repair (NER)					6	40					0	0	1	0	0	A	1747293	G	A	1747293	5	1	81	1	0	0	0	0	0	0	1	0	13588	1391	48	2	174	2	RPA1	17	1747293	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	45	1747293	79447917	11937	15553											
RTN4RL1	146760	broad.mit.edu	37	17	1840091	1840091	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:1840091G>A	ENST00000331238.6	-	2	1504	c.1025C>T	c.(1024-1026)cCg>cTg	p.P342L		NM_178568.2	NP_848663.1	Q86UN2	R4RL1_HUMAN	reticulon 4 receptor-like 1						axon regeneration	anchored to plasma membrane	receptor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|prostate(2)|skin(1)	11						GGGGCCGTGCGGGTGGCCCTT	0.692													12	10					0	0	1	0	0	A	1840091	G	A	1840091	3	1	81	1	0	0	0	0	1	0	0	0	13783	1116	39	1	304	1	RTN4RL1	17	1840091	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	92798	1840091	79355119	11938	15554											
RTN4RL1	146760	broad.mit.edu	37	17	1840632	1840632	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:1840632C>T	ENST00000331238.6	-	2	963	c.484G>A	c.(484-486)Gag>Aag	p.E162K		NM_178568.2	NP_848663.1	Q86UN2	R4RL1_HUMAN	reticulon 4 receptor-like 1						axon regeneration	anchored to plasma membrane	receptor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|prostate(2)|skin(1)	11						TGGAGGTACTCGATGTGGTTG	0.632													6	44					0	0	1	0	0	T	1840632	C	T	1840632	3	4	81	1	0	0	0	0	1	0	0	0	13783	893	31	1	845	1	RTN4RL1	17	1840632	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	541	1840632	79354578	11939	15555											
RTN4RL1	146760	broad.mit.edu	37	17	1840818	1840818	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:1840818C>T	ENST00000331238.6	-	2	777	c.298G>A	c.(298-300)Gtg>Atg	p.V100M		NM_178568.2	NP_848663.1	Q86UN2	R4RL1_HUMAN	reticulon 4 receptor-like 1						axon regeneration	anchored to plasma membrane	receptor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|prostate(2)|skin(1)	11						TCCAGGTGCACGAAGCCCTCG	0.647													10	20					0	0	1	0	0	T	1840818	C	T	1840818	3	4	81	1	0	0	0	0	1	0	0	0	13783	536	19	1	1031	1	RTN4RL1	17	1840818	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	186	1840818	79354392	11940	15556											
DPH1	1801	broad.mit.edu	37	17	1945107	1945107	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:1945107G>T	ENST00000263083.6	+	12	1333	c.1288G>T	c.(1288-1290)Gac>Tac	p.D430Y	DPH1_ENST00000570477.1_Missense_Mutation_p.D350Y	NM_001383.3	NP_001374.3	Q9BZG8	DPH1_HUMAN	diphthamide biosynthesis 1	430					peptidyl-diphthamide biosynthetic process from peptidyl-histidine|translation	cytoplasm|nucleus				endometrium(3)|large_intestine(2)|lung(6)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	17						GGCTTGCGAGGACTGCAGCTG	0.697													4	4					0.00909568	0.00944708	1	1	0	T	1945107	G	T	1945107	3	4	81	1	0	0	0	0	1	0	0	0	4746	1174	41	5	1334	5	DPH1	17	1945107	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	104289	1945107	79250103	11941	15557											
SMG6	23293	broad.mit.edu	37	17	2203472	2203472	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:2203472G>A	ENST00000544865.1	-	2	992	c.482C>T	c.(481-483)gCg>gTg	p.A161V	SMG6_ENST00000263073.6_Missense_Mutation_p.A192V			Q86US8	EST1A_HUMAN	SMG6 nonsense mediated mRNA decay factor	192	Interaction with telomeric DNA.				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation|telomere maintenance	chromosome, telomeric region|cytosol|nucleolus|telomerase holoenzyme complex	endoribonuclease activity|metal ion binding|protein binding|telomeric DNA binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						TGGTTTATTCGCAACTTCCTC	0.522													105	232					0	0	1	0	0	A	2203472	G	A	2203472	3	1	81	1	0	0	0	0	1	0	0	0	14851	1087	38	1	3756	1	SMG6	17	2203472	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	258365	2203472	78991738	11942	15558											
SRR	63826	broad.mit.edu	37	17	2222127	2222127	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:2222127T>C	ENST00000344595.5	+	4	621	c.303T>C	c.(301-303)ccT>ccC	p.P101P	SRR_ENST00000576848.1_Intron	NM_021947.1	NP_068766.1	Q9GZT4	SRR_HUMAN	serine racemase	101					D-serine biosynthetic process|L-serine metabolic process|protein homotetramerization|pyruvate biosynthetic process|response to lipopolysaccharide	cytoplasm|neuronal cell body|soluble fraction	ATP binding|calcium ion binding|D-serine ammonia-lyase activity|glycine binding|L-serine ammonia-lyase activity|magnesium ion binding|PDZ domain binding|protein homodimerization activity|pyridoxal phosphate binding|serine racemase activity|threonine racemase activity			NS(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	8		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)		COAD - Colon adenocarcinoma(228;3.24e-06)|READ - Rectum adenocarcinoma(1115;0.0649)	L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	CAGGAATTCCTGCTTATATTG	0.458													14	238					0	0	1	0	0	C	2222127	T	C	2222127	2	2	81	1	0	0	0	0	0	0	0	1	15222	1567	55	3		3	SRR	17	2222127	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	18655	2222127	78973083	11943	15559											
SGSM2	9905	broad.mit.edu	37	17	2265508	2265508	+	Silent	SNP	G	G	T	rs148544625		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:2265508G>T	ENST00000268989.3	+	4	579	c.402G>T	c.(400-402)acG>acT	p.T134T	SGSM2_ENST00000574563.1_Silent_p.T134T|SGSM2_ENST00000426855.2_Silent_p.T134T	NM_014853.2	NP_055668.2	O43147	SGSM2_HUMAN	small G protein signaling modulator 2	134	RUN.					intracellular	Rab GTPase activator activity			biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(2;5.15e-05)|READ - Rectum adenocarcinoma(2;0.000115)		GGGTACGCACGGCGCTCATCG	0.637													24	52					2.00529e-23	2.6428e-23	1	1	0	T	2265508	G	T	2265508	2	4	81	1	0	0	0	0	0	0	0	1	14277	1103	39	5		5	SGSM2	17	2265508	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	43381	2265508	78929702	11944	15560											
SGSM2	9905	broad.mit.edu	37	17	2274584	2274584	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:2274584C>A	ENST00000268989.3	+	13	1629	c.1452C>A	c.(1450-1452)ggC>ggA	p.G484G	SGSM2_ENST00000574563.1_Silent_p.G439G|SGSM2_ENST00000426855.2_Silent_p.G439G	NM_014853.2	NP_055668.2	O43147	SGSM2_HUMAN	small G protein signaling modulator 2	439						intracellular	Rab GTPase activator activity			biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(2;5.15e-05)|READ - Rectum adenocarcinoma(2;0.000115)		AGATGCAGGGCTTTGGGCCCA	0.662													7	12					0.27861	0.279815	1	1	0	A	2274584	C	A	2274584	2	1	81	1	0	0	0	0	0	0	0	1	14277	784	28	4		4	SGSM2	17	2274584	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	9076	2274584	78920626	11945	15561											
PAFAH1B1	5048	broad.mit.edu	37	17	2579818	2579818	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:2579818C>A	ENST00000397195.5	+	9	1371	c.920C>A	c.(919-921)cCt>cAt	p.P307H	PAFAH1B1_ENST00000451360.2_Intron|PAFAH1B1_ENST00000572915.2_Intron	NM_000430.3	NP_000421.1	P43034	LIS1_HUMAN	platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)	307	Interaction with dynein and dynactin.				acrosome assembly|actin cytoskeleton organization|adult locomotory behavior|brain morphogenesis|corpus callosum morphogenesis|establishment of mitotic spindle orientation|G2/M transition of mitotic cell cycle|hippocampus development|layer formation in cerebral cortex|learning or memory|lipid catabolic process|microtubule organizing center organization|mitotic prometaphase|neuroblast proliferation|neuromuscular process controlling balance|neuron migration|platelet activating factor metabolic process|regulation of Rho GTPase activity|retrograde axon cargo transport|synaptic transmission|vesicle transport along microtubule	astral microtubule|cell cortex|centrosome|cytosol|kinetochore|motile primary cilium|nuclear membrane|perinuclear region of cytoplasm	dynactin binding|heparin binding|microtubule binding|phospholipase binding|phosphoprotein binding|protein homodimerization activity			endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(1)|skin(1)	11						AGTGGTAAACCTGGGCCATTC	0.368													32	52					1.22384e-17	1.58083e-17	1	1	0	A	2579818	C	A	2579818	3	1	81	1	0	0	0	0	1	0	0	0	11431	681	24	4	950	4	PAFAH1B1	17	2579818	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	305234	2579818	78615392	11946	15562											
PAFAH1B1	5048	broad.mit.edu	37	17	2579889	2579889	+	Missense_Mutation	SNP	C	C	A	rs138622703		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:2579889C>A	ENST00000397195.5	+	9	1442	c.991C>A	c.(991-993)Ctt>Att	p.L331I	PAFAH1B1_ENST00000451360.2_Intron|PAFAH1B1_ENST00000572915.2_Intron	NM_000430.3	NP_000421.1	P43034	LIS1_HUMAN	platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)	331	Interaction with dynein and dynactin.				acrosome assembly|actin cytoskeleton organization|adult locomotory behavior|brain morphogenesis|corpus callosum morphogenesis|establishment of mitotic spindle orientation|G2/M transition of mitotic cell cycle|hippocampus development|layer formation in cerebral cortex|learning or memory|lipid catabolic process|microtubule organizing center organization|mitotic prometaphase|neuroblast proliferation|neuromuscular process controlling balance|neuron migration|platelet activating factor metabolic process|regulation of Rho GTPase activity|retrograde axon cargo transport|synaptic transmission|vesicle transport along microtubule	astral microtubule|cell cortex|centrosome|cytosol|kinetochore|motile primary cilium|nuclear membrane|perinuclear region of cytoplasm	dynactin binding|heparin binding|microtubule binding|phospholipase binding|phosphoprotein binding|protein homodimerization activity			endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(1)|skin(1)	11						TGGCATGTGCCTTATGACCCT	0.363													7	71					0.00198382	0.00209725	1	1	0	A	2579889	C	A	2579889	3	1	81	1	0	0	0	0	1	0	0	0	11431	681	24	4	1021	4	PAFAH1B1	17	2579889	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	71	2579889	78615321	11947	15563											
RAP1GAP2	23108	broad.mit.edu	37	17	2908723	2908723	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:2908723G>A	ENST00000254695.8	+	15	1351	c.1261G>A	c.(1261-1263)Gtt>Att	p.V421I	RAP1GAP2_ENST00000366401.4_Missense_Mutation_p.V406I|RAP1GAP2_ENST00000540393.2_Missense_Mutation_p.V402I|RAP1GAP2_ENST00000542807.1_Missense_Mutation_p.V421I	NM_015085.4	NP_055900.4	Q684P5	RPGP2_HUMAN	RAP1 GTPase activating protein 2	421	Rap-GAP.				regulation of small GTPase mediated signal transduction	centrosome|cytosol|perinuclear region of cytoplasm	GTPase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	11						CAGTCCCCCCGTTTTCCAGAA	0.562													71	87					0	0	1	0	0	A	2908723	G	A	2908723	3	1	81	1	0	0	0	0	1	0	0	0	13090	1145	40	1	1319	1	RAP1GAP2	17	2908723	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	328834	2908723	78286487	11948	15564											
OR1D2	4991	broad.mit.edu	37	17	2996130	2996130	+	Missense_Mutation	SNP	C	C	T	rs139391156		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:2996130C>T	ENST00000331459.1	-	1	160	c.161G>A	c.(160-162)cGc>cAc	p.R54H		NM_002548.2	NP_002539.2	P34982	OR1D2_HUMAN	olfactory receptor, family 1, subfamily D, member 2	54					cellular component movement|chemotaxis|protein import into nucleus, translocation|sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity			kidney(2)|large_intestine(2)|lung(10)|ovary(1)	15						GGTGTGCAGGCGGGAATCAGA	0.552													7	127					0	0	1	0	0	T	2996130	C	T	2996130	3	4	81	1	0	0	0	0	1	0	0	0	11001	768	27	1	780	1	OR1D2	17	2996130	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	87407	2996130	78199080	11949	15565											
OR1E2	8388	broad.mit.edu	37	17	3336707	3336707	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:3336707G>A	ENST00000248384.1	-	1	428	c.429C>T	c.(427-429)gcC>gcT	p.A143A		NM_003554.1	NP_003545.1	P47887	OR1E2_HUMAN	olfactory receptor, family 1, subfamily E, member 2	143					sensory perception of smell	integral to plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(3)|lung(3)	9						GGCTCATGATGGCGGTGTAGT	0.567													3	39					0	0	1	0	0	A	3336707	G	A	3336707	2	1	81	1	0	0	0	0	0	0	0	1	11003	1335	47	2		2	OR1E2	17	3336707	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	340577	3336707	77858503	11950	15566											
SPATA22	84690	broad.mit.edu	37	17	3352234	3352234	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:3352234G>A	ENST00000573128.1	-	6	1022	c.539C>T	c.(538-540)tCa>tTa	p.S180L	SPATA22_ENST00000397168.3_Missense_Mutation_p.S180L|SPATA22_ENST00000541913.1_Missense_Mutation_p.S164L|SPATA22_ENST00000575375.1_Missense_Mutation_p.S180L|SPATA22_ENST00000268981.5_Missense_Mutation_p.S180L|SPATA22_ENST00000355380.4_Missense_Mutation_p.S137L|SPATA22_ENST00000572969.1_Missense_Mutation_p.S180L			Q8NHS9	SPT22_HUMAN	spermatogenesis associated 22	180										breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|skin(2)	19						TATTTTTGATGAATGTGTTTG	0.383													17	209					0	0	1	0	0	A	3352234	G	A	3352234	3	1	81	1	0	0	0	0	1	0	0	0	15064	1294	45	2	568	2	SPATA22	17	3352234	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	15527	3352234	77842976	11951	15567											
ASPA	443	broad.mit.edu	37	17	3379573	3379573	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:3379573G>T	ENST00000263080.2	+	1	278	c.120G>T	c.(118-120)gaG>gaT	p.E40D	SPATA22_ENST00000541913.1_Intron|ASPA_ENST00000456349.2_Missense_Mutation_p.E40D	NM_000049.2	NP_000040.1	P45381	ACY2_HUMAN	aspartoacylase	40					aspartate catabolic process	cytoplasm|nucleus	aminoacylase activity|aspartoacylase activity|hydrolase activity, acting on ester bonds|metal ion binding			breast(2)|endometrium(2)|large_intestine(6)|lung(5)|stomach(1)|urinary_tract(1)	17					L-Aspartic Acid(DB00128)	ATGGCGCTGAGATTCAGAGAA	0.428													59	98					1.27334e-21	1.66868e-21	1	1	0	T	3379573	G	T	3379573	3	4	81	1	0	0	0	0	1	0	0	0	1049	933	33	4	122	4	ASPA	17	3379573	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	27339	3379573	77815637	11952	15568											
TRPV3	162514	broad.mit.edu	37	17	3427532	3427532	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:3427532C>T	ENST00000301365.4	-	13	1834	c.1703G>A	c.(1702-1704)gGt>gAt	p.G568D	TRPV3_ENST00000572519.1_Missense_Mutation_p.G568D|TRPV3_ENST00000576742.1_Missense_Mutation_p.G568D			Q8NET8	TRPV3_HUMAN	transient receptor potential cation channel, subfamily V, member 3	568						integral to membrane	calcium channel activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(12)|ovary(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	35					Menthol(DB00825)	GGACTGGAAACCCCGCGTATA	0.587													53	94					0	0	1	0	0	T	3427532	C	T	3427532	3	4	81	1	0	0	0	0	1	0	0	0	16658	507	18	2	693	2	TRPV3	17	3427532	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	47959	3427532	77767678	11953	15569											
TRPV3	162514	broad.mit.edu	37	17	3436060	3436060	+	Missense_Mutation	SNP	C	C	T	rs151284467		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:3436060C>T	ENST00000301365.4	-	8	1087	c.956G>A	c.(955-957)cGc>cAc	p.R319H	TRPV3_ENST00000572519.1_Missense_Mutation_p.R319H|TRPV3_ENST00000576742.1_Missense_Mutation_p.R319H			Q8NET8	TRPV3_HUMAN	transient receptor potential cation channel, subfamily V, member 3	319						integral to membrane	calcium channel activity	p.R319H(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(12)|ovary(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	35					Menthol(DB00825)	GTCGTACATGCGCTTCACAAA	0.602													8	19					0	0	1	0	0	T	3436060	C	T	3436060	3	4	81	1	0	0	0	0	1	0	0	0	16658	768	27	1	1460	1	TRPV3	17	3436060	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	8528	3436060	77759150	11954	15570											
TRPV3	162514	broad.mit.edu	37	17	3458120	3458120	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:3458120C>T	ENST00000301365.4	-	2	156	c.25G>A	c.(25-27)Gtg>Atg	p.V9M	TRPV3_ENST00000572519.1_Missense_Mutation_p.V9M|TRPV3_ENST00000576742.1_Missense_Mutation_p.V9M			Q8NET8	TRPV3_HUMAN	transient receptor potential cation channel, subfamily V, member 3	9						integral to membrane	calcium channel activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(12)|ovary(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	35					Menthol(DB00825)	ATGAGAGGCACCATCTCCTTG	0.622													12	27					0	0	1	0	0	T	3458120	C	T	3458120	3	4	81	1	0	0	0	0	1	0	0	0	16658	507	18	2	2415	2	TRPV3	17	3458120	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	22060	3458120	77737090	11955	15571											
TRPV1	7442	broad.mit.edu	37	17	3477025	3477025	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:3477025T>G	ENST00000174621.6	-	12	2288	c.1999A>C	c.(1999-2001)Att>Ctt	p.I667L	TRPV1_ENST00000310522.5_Missense_Mutation_p.I609L|TRPV1_ENST00000399759.3_Missense_Mutation_p.I669L|TRPV1_ENST00000425167.2_Missense_Mutation_p.I680L|TRPV1_ENST00000399756.4_Missense_Mutation_p.I669L|SHPK_ENST00000572705.1_Missense_Mutation_p.I669L|TRPV1_ENST00000576351.1_Missense_Mutation_p.I659L|TRPV1_ENST00000571088.1_Missense_Mutation_p.I669L			Q8NER1	TRPV1_HUMAN	transient receptor potential cation channel, subfamily V, member 1	669					cell surface receptor linked signaling pathway|chemosensory behavior|thermoception	cell junction|dendritic spine membrane|integral to plasma membrane|postsynaptic membrane	ATP binding|calcium channel activity|calmodulin binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	17				Lung(1;0.055)|COAD - Colon adenocarcinoma(5;0.0896)|LUAD - Lung adenocarcinoma(1115;0.131)	Alpha-Linolenic Acid(DB00132)|Aspartame(DB00168)|Icosapent(DB00159)	TAGGTGAGAATTACATAGGCC	0.517													3	41					0	0	1	0	0	G	3477025	T	G	3477025	3	3	81	1	0	0	0	0	1	0	0	0	16656	1493	52	4		4	TRPV1	17	3477025	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	18905	3477025	77718185	11956	15572											
TRPV1	7442	broad.mit.edu	37	17	3493176	3493176	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:3493176C>T	ENST00000174621.6	-	5	1252	c.963G>A	c.(961-963)acG>acA	p.T321T	TRPV1_ENST00000310522.5_Silent_p.T323T|TRPV1_ENST00000399759.3_Silent_p.T323T|TRPV1_ENST00000425167.2_Silent_p.T323T|TRPV1_ENST00000399756.4_Silent_p.T323T|SHPK_ENST00000572705.1_Silent_p.T323T|TRPV1_ENST00000576351.1_Silent_p.T323T|TRPV1_ENST00000571088.1_Silent_p.T323T			Q8NER1	TRPV1_HUMAN	transient receptor potential cation channel, subfamily V, member 1	323					cell surface receptor linked signaling pathway|chemosensory behavior|thermoception	cell junction|dendritic spine membrane|integral to plasma membrane|postsynaptic membrane	ATP binding|calcium channel activity|calmodulin binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	17				Lung(1;0.055)|COAD - Colon adenocarcinoma(5;0.0896)|LUAD - Lung adenocarcinoma(1115;0.131)	Alpha-Linolenic Acid(DB00132)|Aspartame(DB00168)|Icosapent(DB00159)	CCAGCTTCAGCGTCGGGTGCA	0.607													7	8					0	0	1	0	0	T	3493176	C	T	3493176	2	4	81	1	0	0	0	0	0	0	0	1	16656	755	27	1		1	TRPV1	17	3493176	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	16151	3493176	77702034	11957	15573											
SHPK	23729	broad.mit.edu	37	17	3513958	3513958	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:3513958G>A	ENST00000225519.3	-	7	1435	c.1333C>T	c.(1333-1335)Cag>Tag	p.Q445*		NM_013276.2	NP_037408	Q9UHJ6	SHPK_HUMAN	sedoheptulokinase	445					carbohydrate metabolic process	cytoplasm	ATP binding|sedoheptulokinase activity			breast(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				COAD - Colon adenocarcinoma(5;0.0828)		AAAGCCCTCTGCACCTCCTGC	0.602													27	87					0	0	1	0	0	A	3513958	G	A	3513958	4	1	81	1	0	0	0	0	0	1	0	0	14345	1328	46	2	107	2	SHPK	17	3513958	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	20782	3513958	77681252	11958	15574											
CTNS	1497	broad.mit.edu	37	17	3559990	3559990	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:3559990C>T	ENST00000046640.3	+	9	1175	c.582C>T	c.(580-582)taC>taT	p.Y194Y	CTNS_ENST00000441220.2_Silent_p.Y86Y|RP11-235E17.6_ENST00000575741.1_RNA|CTNS_ENST00000414524.2_Silent_p.Y47Y|CTNS_ENST00000381870.3_Silent_p.Y194Y	NM_004937.2	NP_004928.2	O60931	CTNS_HUMAN	cystinosin, lysosomal cystine transporter	194					ATP metabolic process|brain development|cognition|glutathione metabolic process	integral to membrane|late endosome|lysosomal membrane	L-cystine transmembrane transporter activity			NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)	10				COAD - Colon adenocarcinoma(5;0.0829)	L-Cystine(DB00138)	TCCTCAAATACCCCAACGGAG	0.597													24	37					0	0	1	0	0	T	3559990	C	T	3559990	2	4	81	1	0	0	0	0	0	0	0	1	4045	518	18	2		2	CTNS	17	3559990	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	46032	3559990	77635220	11959	15575											
CTNS	1497	broad.mit.edu	37	17	3560041	3560041	+	Silent	SNP	C	C	T	rs150428029		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:3560041C>T	ENST00000046640.3	+	9	1226	c.633C>T	c.(631-633)caC>caT	p.H211H	CTNS_ENST00000441220.2_Silent_p.H103H|RP11-235E17.6_ENST00000575741.1_RNA|CTNS_ENST00000414524.2_Silent_p.H64H|CTNS_ENST00000381870.3_Silent_p.H211H	NM_004937.2	NP_004928.2	O60931	CTNS_HUMAN	cystinosin, lysosomal cystine transporter	211					ATP metabolic process|brain development|cognition|glutathione metabolic process	integral to membrane|late endosome|lysosomal membrane	L-cystine transmembrane transporter activity			NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)	10				COAD - Colon adenocarcinoma(5;0.0829)	L-Cystine(DB00138)	TCAGCCTGCACGCGGTTGTCC	0.612													20	38					0	0	1	0	0	T	3560041	C	T	3560041	2	4	81	1	0	0	0	0	0	0	0	1	4045	535	19	1		1	CTNS	17	3560041	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	51	3560041	77635169	11960	15576											
ITGAE	3682	broad.mit.edu	37	17	3620083	3620083	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:3620083C>T	ENST00000263087.4	-	30	3441	c.3343G>A	c.(3343-3345)Gtc>Atc	p.V1115I		NM_002208.4	NP_002199.3	P38570	ITAE_HUMAN	integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide)	1115					cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		TTCAGGAAGACGACAGTGATC	0.408													27	52					0	0	1	0	0	T	3620083	C	T	3620083	3	4	81	1	0	0	0	0	1	0	0	0	7929	536	19	1	204	1	ITGAE	17	3620083	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	60042	3620083	77575127	11961	15577											
ITGAE	3682	broad.mit.edu	37	17	3643130	3643130	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:3643130C>T	ENST00000263087.4	-	20	2589	c.2491G>A	c.(2491-2493)Gca>Aca	p.A831T		NM_002208.4	NP_002199.3	P38570	ITAE_HUMAN	integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide)	831					cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		TGTAATTCTGCGACACAAAAC	0.552													18	32					0	0	1	0	0	T	3643130	C	T	3643130	3	4	81	1	0	0	0	0	1	0	0	0	7929	768	27	1	1096	1	ITGAE	17	3643130	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	23047	3643130	77552080	11962	15578											
ITGAE	3682	broad.mit.edu	37	17	3658554	3658554	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:3658554C>T	ENST00000263087.4	-	12	1339	c.1241G>A	c.(1240-1242)cGg>cAg	p.R414Q		NM_002208.4	NP_002199.3	P38570	ITAE_HUMAN	integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide)	414					cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		CAGCACCTGCCGCTGAAGGGG	0.731													3	3					0	0	1	0	0	T	3658554	C	T	3658554	5	4	81	1	0	0	0	0	0	0	1	0	7929	666	23	1	2378	1	ITGAE	17	3658554	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	15424	3658554	77536656	11963	15579											
CAMKK1	84254	broad.mit.edu	37	17	3776741	3776741	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:3776741C>T	ENST00000381771.2	-	12	1273	c.1126G>A	c.(1126-1128)Gcc>Acc	p.A376T	CAMKK1_ENST00000158166.5_Missense_Mutation_p.A376T|CAMKK1_ENST00000348335.2_Missense_Mutation_p.A338T|CAMKK1_ENST00000381769.2_Missense_Mutation_p.A365T			Q8N5S9	KKCC1_HUMAN	calcium/calmodulin-dependent protein kinase kinase 1, alpha	338	Protein kinase.				synaptic transmission	cytosol|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	11				LUAD - Lung adenocarcinoma(2;2.11e-05)|Lung(3;0.0176)		ACGCCAGTGGCCCATACATCC	0.632													36	61					0	0	1	0	0	T	3776741	C	T	3776741	3	4	81	1	0	0	0	0	1	0	0	0	2624	739	26	2	533	2	CAMKK1	17	3776741	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	118187	3776741	77418469	11964	15580											
P2RX1	5023	broad.mit.edu	37	17	3808550	3808550	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:3808550C>A	ENST00000225538.3	-	2	523	c.249G>T	c.(247-249)caG>caT	p.Q83H		NM_002558.2	NP_002549.1	P51575	P2RX1_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 1	83					platelet activation	integral to plasma membrane	calcium channel activity|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity			cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	13				LUAD - Lung adenocarcinoma(2;1.9e-05)|Lung(3;0.0173)		CATCCCAGACCTGGGGGCCGA	0.622													20	26					2.37509e-13	2.99406e-13	1	1	0	A	3808550	C	A	3808550	3	1	81	1	0	0	0	0	1	0	0	0	11386	680	24	4	994	4	P2RX1	17	3808550	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	31809	3808550	77386660	11965	15581											
ATP2A3	489	broad.mit.edu	37	17	3832730	3832730	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:3832730C>T	ENST00000309890.7	-	19	2904	c.2754G>A	c.(2752-2754)gaG>gaA	p.E918E	ATP2A3_ENST00000397041.3_Silent_p.E918E|ATP2A3_ENST00000397043.3_Silent_p.E918E|ATP2A3_ENST00000359983.3_Silent_p.E918E|ATP2A3_ENST00000397035.3_Silent_p.E918E|ATP2A3_ENST00000397039.1_Silent_p.E102E|ATP2A3_ENST00000352011.3_Silent_p.E918E	NM_174953.2|NM_174954.2|NM_174955.2|NM_174956.2	NP_777613.1|NP_777614.1|NP_777615.1|NP_777616.1	Q93084	AT2A3_HUMAN	ATPase, Ca++ transporting, ubiquitous	918					ATP biosynthetic process|platelet activation	integral to membrane|nuclear membrane|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	36				LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)		GCGACTGGTTCTCCGAGACGC	0.682													5	2					0	0	1	0	0	T	3832730	C	T	3832730	2	4	81	1	0	0	0	0	0	0	0	1	1137	912	32	2		2	ATP2A3	17	3832730	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	24180	3832730	77362480	11966	15582											
ATP2A3	489	broad.mit.edu	37	17	3844783	3844783	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:3844783G>A	ENST00000309890.7	-	13	1861	c.1711C>T	c.(1711-1713)Cca>Tca	p.P571S	ATP2A3_ENST00000397041.3_Missense_Mutation_p.P571S|ATP2A3_ENST00000397043.3_Missense_Mutation_p.P571S|ATP2A3_ENST00000359983.3_Missense_Mutation_p.P571S|ATP2A3_ENST00000397035.3_Missense_Mutation_p.P571S|ATP2A3_ENST00000397039.1_5'UTR|ATP2A3_ENST00000352011.3_Missense_Mutation_p.P571S	NM_174953.2|NM_174954.2|NM_174955.2|NM_174956.2	NP_777613.1|NP_777614.1|NP_777615.1|NP_777616.1	Q93084	AT2A3_HUMAN	ATPase, Ca++ transporting, ubiquitous	571					ATP biosynthetic process|platelet activation	integral to membrane|nuclear membrane|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	36				LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)		TCCTTCCTTGGGGGCGCGTCC	0.647													30	48					0	0	1	0	0	A	3844783	G	A	3844783	3	1	81	1	0	0	0	0	1	0	0	0	1137	1232	43	2	1535	2	ATP2A3	17	3844783	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	12053	3844783	77350427	11967	15583											
ATP2A3	489	broad.mit.edu	37	17	3844865	3844865	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:3844865C>T	ENST00000309890.7	-	13	1779	c.1629G>A	c.(1627-1629)gaG>gaA	p.E543E	ATP2A3_ENST00000397041.3_Silent_p.E543E|ATP2A3_ENST00000397043.3_Silent_p.E543E|ATP2A3_ENST00000359983.3_Silent_p.E543E|ATP2A3_ENST00000397035.3_Silent_p.E543E|ATP2A3_ENST00000397039.1_5'UTR|ATP2A3_ENST00000352011.3_Silent_p.E543E	NM_174953.2|NM_174954.2|NM_174955.2|NM_174956.2	NP_777613.1|NP_777614.1|NP_777615.1|NP_777616.1	Q93084	AT2A3_HUMAN	ATPase, Ca++ transporting, ubiquitous	543					ATP biosynthetic process|platelet activation	integral to membrane|nuclear membrane|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	36				LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)		CCAGGATCTGCTCCCTGGAGG	0.682													26	38					0	0	1	0	0	T	3844865	C	T	3844865	2	4	81	1	0	0	0	0	0	0	0	1	1137	796	28	2		2	ATP2A3	17	3844865	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	82	3844865	77350345	11968	15584											
ZZEF1	23140	broad.mit.edu	37	17	3945724	3945724	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:3945724G>A	ENST00000381638.2	-	39	6429	c.6305C>T	c.(6304-6306)tCg>tTg	p.S2102L		NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	2102							calcium ion binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						TGCCCTTACCGACTTTAAGGG	0.423													42	55					0	0	1	0	0	A	3945724	G	A	3945724	5	1	81	1	0	0	0	0	0	0	1	0	18295	1072	37	1	2648	1	ZZEF1	17	3945724	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	100859	3945724	77249486	11969	15585											
ZZEF1	23140	broad.mit.edu	37	17	3999910	3999910	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:3999910C>T	ENST00000381638.2	-	10	1881	c.1757G>A	c.(1756-1758)aGa>aAa	p.R586K	ZZEF1_ENST00000574474.1_5'UTR	NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	586							calcium ion binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						TACCATAATTCTTATCTGTGT	0.343													13	153					0	0	1	0	0	T	3999910	C	T	3999910	3	4	81	1	0	0	0	0	1	0	0	0	18295	913	32	2	7312	2	ZZEF1	17	3999910	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	54186	3999910	77195300	11970	15586											
ZZEF1	23140	broad.mit.edu	37	17	4005701	4005701	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:4005701G>T	ENST00000381638.2	-	9	1706	c.1582C>A	c.(1582-1584)Ctc>Atc	p.L528I	ZZEF1_ENST00000574474.1_5'UTR	NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	528							calcium ion binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						GTCAACTGGAGAGGTTTACCT	0.448													32	40					1.22384e-17	1.58083e-17	1	1	0	T	4005701	G	T	4005701	3	4	81	1	0	0	0	0	1	0	0	0	18295	942	33	4	7491	4	ZZEF1	17	4005701	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	5791	4005701	77189509	11971	15587											
ZZEF1	23140	broad.mit.edu	37	17	4027225	4027225	+	Missense_Mutation	SNP	G	G	T	rs78111743	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:4027225G>T	ENST00000381638.2	-	2	599	c.475C>A	c.(475-477)Cta>Ata	p.L159I	ZZEF1_ENST00000574474.1_5'UTR	NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	159							calcium ion binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						CAGGCCTGTAGTTGTCTGATG	0.478													12	17					0.00136819	0.00145431	1	1	0	T	4027225	G	T	4027225	3	4	81	1	0	0	0	0	1	0	0	0	18295	1020	36	4	8626	4	ZZEF1	17	4027225	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	21524	4027225	77167985	11972	15588											
ANKFY1	51479	broad.mit.edu	37	17	4076668	4076668	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:4076668C>T	ENST00000341657.4	-	21	3030	c.2995G>A	c.(2995-2997)Gcc>Acc	p.A999T	ANKFY1_ENST00000570535.1_Missense_Mutation_p.A1041T|ANKFY1_ENST00000574367.1_Missense_Mutation_p.A1000T|CYB5D2_ENST00000573984.1_Intron	NM_016376.3	NP_057460.3	Q9P2R3	ANFY1_HUMAN	ankyrin repeat and FYVE domain containing 1	999						endosome membrane	metal ion binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|liver(1)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						AAGGCTTCGGCGTCCACTGTG	0.597													16	24					0	0	1	0	0	T	4076668	C	T	4076668	3	4	81	1	0	0	0	0	1	0	0	0	622	768	27	1	534	1	ANKFY1	17	4076668	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	49443	4076668	77118542	11973	15589											
SMTNL2	342527	broad.mit.edu	37	17	4498602	4498602	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:4498602G>T	ENST00000389313.4	+	5	1036	c.969G>T	c.(967-969)gaG>gaT	p.E323D	SMTNL2_ENST00000338859.4_Missense_Mutation_p.E179D	NM_001114974.1	NP_001108446.1	Q2TAL5	SMTL2_HUMAN	smoothelin-like 2	323										breast(1)|endometrium(9)|kidney(1)|lung(1)|skin(1)	13				READ - Rectum adenocarcinoma(115;0.0325)		AGAAGTGGGAGCAGGAAACGG	0.692													4	19					0.014758	0.0152304	1	1	0	T	4498602	G	T	4498602	3	4	81	1	0	0	0	0	1	0	0	0	14870	962	34	4	987	4	SMTNL2	17	4498602	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	421934	4498602	76696608	11974	15590											
ALOX15	246	broad.mit.edu	37	17	4539075	4539075	+	Silent	SNP	C	C	T	rs142441164	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:4539075C>T	ENST00000570836.1	-	9	1236	c.1140G>A	c.(1138-1140)ccG>ccA	p.P380P	ALOX15_ENST00000545513.1_Silent_p.P402P|ALOX15_ENST00000574640.1_Silent_p.P341P|ALOX15_ENST00000293761.3_Silent_p.P380P			P16050	LOX15_HUMAN	arachidonate 15-lipoxygenase	380	Lipoxygenase.				inflammatory response|leukotriene biosynthetic process	nucleus	arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(5)	20				READ - Rectum adenocarcinoma(115;0.0327)	Ciclopirox(DB01188)|Masoprocol(DB00179)|Zileuton(DB00744)	GATGTATCGACGGCAGGCACC	0.562													18	27					0	0	1	0	0	T	4539075	C	T	4539075	2	4	81	1	0	0	0	0	0	0	0	1	534	523	19	1		1	ALOX15	17	4539075	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	40473	4539075	76656135	11975	15591											
ALOX15	246	broad.mit.edu	37	17	4540418	4540418	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:4540418C>T	ENST00000570836.1	-	8	1039	c.943G>A	c.(943-945)Gtc>Atc	p.V315I	ALOX15_ENST00000545513.1_Missense_Mutation_p.V337I|ALOX15_ENST00000574640.1_Missense_Mutation_p.V276I|ALOX15_ENST00000293761.3_Missense_Mutation_p.V315I			P16050	LOX15_HUMAN	arachidonate 15-lipoxygenase	315	Lipoxygenase.				inflammatory response|leukotriene biosynthetic process	nucleus	arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(5)	20				READ - Rectum adenocarcinoma(115;0.0327)	Ciclopirox(DB01188)|Masoprocol(DB00179)|Zileuton(DB00744)	ACCTGGATGACCATGGGCAAG	0.517													9	75					0	0	1	0	0	T	4540418	C	T	4540418	3	4	81	1	0	0	0	0	1	0	0	0	534	507	18	2	1077	2	ALOX15	17	4540418	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1343	4540418	76654792	11976	15592											
PELP1	27043	broad.mit.edu	37	17	4579733	4579733	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:4579733C>T	ENST00000301396.4	-	7	997	c.772G>A	c.(772-774)Gag>Aag	p.E258K	PELP1_ENST00000572293.1_Missense_Mutation_p.E308K|AC091153.4_ENST00000441700.2_RNA|PELP1_ENST00000436683.2_Missense_Mutation_p.E111K|PELP1_ENST00000269230.7_Missense_Mutation_p.E258K|PELP1_ENST00000574876.1_Missense_Mutation_p.E258K			Q8IZL8	PELP1_HUMAN	proline, glutamate and leucine rich protein 1	258					transcription, DNA-dependent	cytoplasm|MLL1 complex	protein binding			breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	15						TCCCAGCTCTCGGTGTGCTTC	0.607													30	43					0	0	1	0	0	T	4579733	C	T	4579733	3	4	81	1	0	0	0	0	1	0	0	0	11772	893	31	1	2664	1	PELP1	17	4579733	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	39315	4579733	76615477	11977	15593											
ARRB2	409	broad.mit.edu	37	17	4624310	4624310	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:4624310C>T	ENST00000269260.2	+	15	1439	c.1206C>T	c.(1204-1206)gaC>gaT	p.D402D	ARRB2_ENST00000346341.2_Silent_p.D399D|ARRB2_ENST00000575877.1_3'UTR|ARRB2_ENST00000572457.1_Silent_p.D210D|ARRB2_ENST00000381488.6_Silent_p.D387D|ARRB2_ENST00000412477.3_Silent_p.D423D|ARRB2_ENST00000571206.1_Silent_p.D210D|ARRB2_ENST00000574954.1_Silent_p.D210D	NM_001257328.1|NM_001257330.1|NM_004313.3	NP_001244257.1|NP_001244259.1|NP_004304.1	P32121	ARRB2_HUMAN	arrestin, beta 2	402	Interaction with AP2B1.|Interaction with TRAF6.				cell chemotaxis|desensitization of G-protein coupled receptor protein signaling pathway by arrestin|G-protein coupled receptor internalization|negative regulation of natural killer cell mediated cytotoxicity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|platelet activation|positive regulation of ERK1 and ERK2 cascade|proteasomal ubiquitin-dependent protein catabolic process|protein transport|protein ubiquitination|transcription from RNA polymerase II promoter|transforming growth factor beta receptor signaling pathway	coated pit|cytoplasmic membrane-bounded vesicle|cytosol|nucleus|plasma membrane	angiotensin receptor binding|ubiquitin protein ligase binding			large_intestine(1)|liver(2)|lung(3)|prostate(1)	7						TGAAGGATGACGACTATGATG	0.542													29	62					0	0	1	0	0	T	4624310	C	T	4624310	2	4	81	1	0	0	0	0	0	0	0	1	980	535	19	1		1	ARRB2	17	4624310	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	44577	4624310	76570900	11978	15594											
PLD2	5338	broad.mit.edu	37	17	4725991	4725991	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:4725991C>T	ENST00000263088.6	+	25	2765	c.2634C>T	c.(2632-2634)taC>taT	p.Y878Y	PLD2_ENST00000572940.1_Silent_p.Y867Y	NM_001243108.1|NM_002663.4	NP_001230037.1|NP_002654.3	O14939	PLD2_HUMAN	phospholipase D2	878					cell communication|cytoskeleton organization|small GTPase mediated signal transduction		NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)	31					Choline(DB00122)	TCCGGGAGTACGTGGCCGTGG	0.657													38	41					0	0	1	0	0	T	4725991	C	T	4725991	2	4	81	1	0	0	0	0	0	0	0	1	12094	547	19	1		1	PLD2	17	4725991	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	101681	4725991	76469219	11979	15595											
MINK1	50488	broad.mit.edu	37	17	4799092	4799092	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:4799092T>C	ENST00000355280.6	+	27	3525	c.3329T>C	c.(3328-3330)gTg>gCg	p.V1110A	MINK1_ENST00000347992.7_Missense_Mutation_p.V1081A|MINK1_ENST00000453408.3_Missense_Mutation_p.V1090A	NM_001024937.3|NM_015716.4|NM_153827.4	NP_001020108.1|NP_056531.1|NP_722549.2	Q8N4C8	MINK1_HUMAN	misshapen-like kinase 1	1110	CNH.|Mediates interaction with RAP2A.				JNK cascade	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)|stomach(1)	6						TGGACCACCGTGGGGGACATG	0.552													7	18					0	0	1	0	0	C	4799092	T	C	4799092	3	2	81	1	0	0	0	0	1	0	0	0	9635	1696	59	3	3202	3	MINK1	17	4799092	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	73101	4799092	76396118	11980	15596											
MINK1	50488	broad.mit.edu	37	17	4799865	4799865	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:4799865G>A	ENST00000355280.6	+	30	3953	c.3757G>A	c.(3757-3759)Gag>Aag	p.E1253K	MINK1_ENST00000347992.7_Missense_Mutation_p.E1224K|MINK1_ENST00000453408.3_Missense_Mutation_p.E1233K	NM_001024937.3|NM_015716.4|NM_153827.4	NP_001020108.1|NP_056531.1|NP_722549.2	Q8N4C8	MINK1_HUMAN	misshapen-like kinase 1	1253	CNH.|Mediates interaction with RAP2A.				JNK cascade	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)|stomach(1)	6						GCAGTGGGGGGAGATGCCTAC	0.637													17	32					0	0	1	0	0	A	4799865	G	A	4799865	3	1	81	1	0	0	0	0	1	0	0	0	9635	1175	41	2	3642	2	MINK1	17	4799865	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	773	4799865	76395345	11981	15597											
RNF167	26001	broad.mit.edu	37	17	4844395	4844395	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:4844395G>T	ENST00000262482.6	+	3	764	c.108G>T	c.(106-108)atG>atT	p.M36I	RNF167_ENST00000572430.1_Missense_Mutation_p.M36I|RNF167_ENST00000575111.1_Missense_Mutation_p.M36I|RNF167_ENST00000570492.1_3'UTR|RNF167_ENST00000571816.1_Missense_Mutation_p.M36I|RNF167_ENST00000576229.1_Start_Codon_SNP_p.M1I	NM_015528.1	NP_056343.1	Q9H6Y7	RN167_HUMAN	ring finger protein 167	36					negative regulation of cell cycle|protein polyubiquitination	cytoplasm|endomembrane system|integral to membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|large_intestine(2)|lung(1)	4						ATGCCAGCATGGACTTTGCAG	0.552													15	33					2.31682e-05	2.58805e-05	1	1	0	T	4844395	G	T	4844395	3	4	81	1	0	0	0	0	1	0	0	0	13510	1348	47	5	114	5	RNF167	17	4844395	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	44530	4844395	76350815	11982	15598											
ENO3	2027	broad.mit.edu	37	17	4858806	4858806	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:4858806G>A	ENST00000323997.6	+	8	904	c.772G>A	c.(772-774)Gat>Aat	p.D258N	ENO3_ENST00000518175.1_Missense_Mutation_p.D258N|ENO3_ENST00000519584.1_Missense_Mutation_p.D215N	NM_001976.4|NM_053013.3	NP_001967.3|NP_443739.3	P13929	ENOB_HUMAN	enolase 3 (beta, muscle)	258					gluconeogenesis|glycolysis	phosphopyruvate hydratase complex	magnesium ion binding|phosphopyruvate hydratase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)	15						TGGGAAGTACGATCTTGACTT	0.542													109	158					0	0	1	0	0	A	4858806	G	A	4858806	3	1	81	1	0	0	0	0	1	0	0	0	5151	1058	37	1	798	1	ENO3	17	4858806	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	14411	4858806	76336404	11983	15599											
SPAG7	9552	broad.mit.edu	37	17	4863040	4863040	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:4863040G>A	ENST00000575142.1	-	6	574	c.556C>T	c.(556-558)Cgg>Tgg	p.R186W	SPAG7_ENST00000206020.3_Intron|SPAG7_ENST00000573366.1_Intron			O75391	SPAG7_HUMAN	sperm associated antigen 7	0						nucleus	nucleic acid binding|protein binding			central_nervous_system(1)|endometrium(1)|kidney(2)|lung(3)|ovary(2)|urinary_tract(1)	10						ACCCCCAGCCGCACTGTGGCC	0.622													9	119					0	0	1	0	0	A	4863040	G	A	4863040	3	1	81	1	0	0	0	0	1	0	0	0	15039	1102	38	1		1	SPAG7	17	4863040	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	4234	4863040	76332170	11984	15600											
CAMTA2	23125	broad.mit.edu	37	17	4883291	4883291	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:4883291G>T	ENST00000361571.5	-	8	1734	c.1323C>A	c.(1321-1323)ttC>ttA	p.F441L	CAMTA2_ENST00000572543.1_Missense_Mutation_p.F447L|CAMTA2_ENST00000348066.3_Missense_Mutation_p.F442L|CAMTA2_ENST00000381311.5_Missense_Mutation_p.F444L|CAMTA2_ENST00000414043.3_Missense_Mutation_p.F465L|CAMTA2_ENST00000358183.4_Missense_Mutation_p.F442L	NM_001171168.1	NP_001164639.1	O94983	CMTA2_HUMAN	calmodulin binding transcription activator 2	442					cardiac muscle hypertrophy in response to stress|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	calmodulin binding|chromatin binding|histone deacetylase binding|transcription factor binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						CTTGGATGAAGAAGCAGTTTC	0.642													30	70					3.03874e-20	3.96671e-20	1	1	0	T	4883291	G	T	4883291	3	4	81	1	0	0	0	0	1	0	0	0	2632	933	33	4	2392	4	CAMTA2	17	4883291	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	20251	4883291	76311919	11985	15601											
KIF1C	10749	broad.mit.edu	37	17	4907888	4907888	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:4907888G>A	ENST00000320785.5	+	12	1324	c.967G>A	c.(967-969)Gca>Aca	p.A323T		NM_006612.5	NP_006603.2	O43896	KIF1C_HUMAN	kinesin family member 1C	323					microtubule-based movement|retrograde vesicle-mediated transport, Golgi to ER	endoplasmic reticulum|Golgi apparatus|microtubule	ATP binding|microtubule motor activity			NS(2)|breast(4)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|skin(1)|urinary_tract(3)	30						AGCCATGATTGCAGCCCTGAG	0.577													32	65					0	0	1	0	0	A	4907888	G	A	4907888	3	1	81	1	0	0	0	0	1	0	0	0	8327	1319	46	2	1005	2	KIF1C	17	4907888	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	24597	4907888	76287322	11986	15602											
ZFP3	124961	broad.mit.edu	37	17	4995471	4995471	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:4995471C>A	ENST00000318833.3	+	2	1008	c.672C>A	c.(670-672)ccC>ccA	p.P224P		NM_153018.2	NP_694563.1	Q96NJ6	ZFP3_HUMAN	ZFP3 zinc finger protein	224					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(3)|prostate(1)	20						GAGAGAGACCCTATAAATGTG	0.383													6	70					0.248553	0.249876	1	1	0	A	4995471	C	A	4995471	2	1	81	1	0	0	0	0	0	0	0	1	17701	668	24	4		4	ZFP3	17	4995471	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	87583	4995471	76199739	11987	15603											
ZNF232	7775	broad.mit.edu	37	17	5009499	5009499	+	Missense_Mutation	SNP	C	C	T	rs140021055		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:5009499C>T	ENST00000250076.3	-	5	1609	c.955G>A	c.(955-957)Gtt>Att	p.V319I	ZNF232_ENST00000575898.1_Missense_Mutation_p.V310I|ZNF232_ENST00000416429.2_3'UTR	NM_014519.2	NP_055334.2	Q9UNY5	ZN232_HUMAN	zinc finger protein 232	292					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			kidney(1)|large_intestine(2)|liver(1)|lung(4)|ovary(1)|prostate(2)	11						TGGTGGACAACAAGATGTGAG	0.413													55	74					0	0	1	0	0	T	5009499	C	T	5009499	3	4	81	1	0	0	0	0	1	0	0	0	17843	478	17	2	383	2	ZNF232	17	5009499	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	14028	5009499	76185711	11988	15604											
ZNF232	7775	broad.mit.edu	37	17	5013046	5013046	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:5013046C>A	ENST00000250076.3	-	3	795	c.141G>T	c.(139-141)gaG>gaT	p.E47D	ZNF232_ENST00000575898.1_Missense_Mutation_p.E47D|ZNF232_ENST00000575538.1_5'UTR|ZNF232_ENST00000416429.2_Missense_Mutation_p.E20D	NM_014519.2	NP_055334.2	Q9UNY5	ZN232_HUMAN	zinc finger protein 232	20					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			kidney(1)|large_intestine(2)|liver(1)|lung(4)|ovary(1)|prostate(2)	11						TCATCATCTTCTCTTGTCCCT	0.512													28	45					1.68575e-08	2.00735e-08	1	1	0	A	5013046	C	A	5013046	3	1	81	1	0	0	0	0	1	0	0	0	17843	912	32	4	1205	4	ZNF232	17	5013046	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3547	5013046	76182164	11989	15605											
USP6	9098	broad.mit.edu	37	17	5048783	5048783	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:5048783G>T	ENST00000574788.1	+	27	4306	c.2076G>T	c.(2074-2076)aaG>aaT	p.K692N	USP6_ENST00000304328.5_Missense_Mutation_p.K375N|USP6_ENST00000250066.6_Missense_Mutation_p.K692N|USP6_ENST00000332776.4_Missense_Mutation_p.K692N			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6 (Tre-2 oncogene)	692					protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						TCAAATGCAAGACATGTGGGC	0.388			T	"COL1A1, CDH11, ZNF9, OMD"	aneurysmal bone cysts								32	53					2.46105e-21	3.22097e-21	1	1	0	T	5048783	G	T	5048783	3	4	81	1	0	0	0	0	1	0	0	0	17146	933	33	4	2146	4	USP6	17	5048783	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	35737	5048783	76146427	11990	15606											
ZNF594	84622	broad.mit.edu	37	17	5087482	5087482	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:5087482G>T	ENST00000399604.4	-	1	210	c.70C>A	c.(70-72)Ctc>Atc	p.L24I	ZNF594_ENST00000575779.1_Missense_Mutation_p.L24I			Q96JF6	ZN594_HUMAN	zinc finger protein 594	24					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						TGTCTTTGGAGTTTTTCGGAT	0.388													31	58					3.99451e-17	5.14651e-17	1	1	0	T	5087482	G	T	5087482	3	4	81	1	0	0	0	0	1	0	0	0	18081	1029	36	4	2357	4	ZNF594	17	5087482	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	38699	5087482	76107728	11991	15607											
ZNF594	84622	broad.mit.edu	37	17	5087572	5087572	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:5087572C>A	ENST00000575779.1	-	2	136		c.e2-1		ZNF594_ENST00000399604.4_5'UTR	NM_032530.1	NP_115919.1	Q96JF6	ZN594_HUMAN	zinc finger protein 594						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						TCTTCAGAATCTGAAATGATA	0.358													8	29					0.00448238	0.00470627	1	1	0	A	5087572	C	A	5087572	5	1	81	1	0	0	0	0	0	0	1	0	18081	927	32	4		4	ZNF594	17	5087572	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	90	5087572	76107638	11992	15608											
NUP88	4927	broad.mit.edu	37	17	5322786	5322786	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:5322786A>G	ENST00000573584.1	-	1	694	c.185T>C	c.(184-186)tTt>tCt	p.F62S		NM_002532.4	NP_002523.2	Q99567	NUP88_HUMAN	nucleoporin 88kDa	62					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	transporter activity			endometrium(4)|kidney(4)|large_intestine(4)|lung(3)	15						GCCGAGGCCAAAGACCACGTT	0.622													9	88					0	0	1	0	0	G	5322786	A	G	5322786	3	3	81	1	0	0	0	0	1	0	0	0	10819	14	1	3	2108	3	NUP88	17	5322786	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	235214	5322786	75872424	11993	15609											
NLRP1	22861	broad.mit.edu	37	17	5424984	5424984	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:5424984A>T	ENST00000345221.3	-	13	4197	c.3643T>A	c.(3643-3645)Ttg>Atg	p.L1215M	NLRP1_ENST00000354411.3_Missense_Mutation_p.L1185M|NLRP1_ENST00000577119.1_Missense_Mutation_p.L1185M|NLRP1_ENST00000572272.1_Missense_Mutation_p.L1215M|NLRP1_ENST00000262467.5_Missense_Mutation_p.L1219M|NLRP1_ENST00000269280.4_Missense_Mutation_p.L1215M	NM_014922.4|NM_033004.3|NM_033007.3	NP_055737.1|NP_127497.1|NP_127500.1	Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	1215					defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	cytoplasm|NALP1 inflammasome complex|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				AGGACTCCCAAGGGGGAGAAG	0.542													5	61					0	0	1	0	0	T	5424984	A	T	5424984	3	4	81	1	0	0	0	0	1	0	0	0	10518	69	3	5	861	5	NLRP1	17	5424984	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	102198	5424984	75770226	11994	15610											
NLRP1	22861	broad.mit.edu	37	17	5433810	5433810	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:5433810C>T	ENST00000345221.3	-	12	4065	c.3511G>A	c.(3511-3513)Gct>Act	p.A1171T	NLRP1_ENST00000354411.3_Missense_Mutation_p.A1141T|NLRP1_ENST00000577119.1_Missense_Mutation_p.A1141T|NLRP1_ENST00000572272.1_Missense_Mutation_p.A1171T|NLRP1_ENST00000262467.5_Missense_Mutation_p.A1175T|NLRP1_ENST00000269280.4_Missense_Mutation_p.A1171T|NLRP1_ENST00000571307.1_5'UTR	NM_014922.4|NM_033004.3|NM_033007.3	NP_055737.1|NP_127497.1|NP_127500.1	Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	1171					defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	cytoplasm|NALP1 inflammasome complex|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				CCTTGGAGAGCCACAAAGTGA	0.542													14	23					0	0	1	0	0	T	5433810	C	T	5433810	3	4	81	1	0	0	0	0	1	0	0	0	10518	739	26	2	997	2	NLRP1	17	5433810	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	8826	5433810	75761400	11995	15611											
NLRP1	22861	broad.mit.edu	37	17	5461658	5461658	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:5461658C>T	ENST00000345221.3	-	4	2912		c.e4+1		NLRP1_ENST00000354411.3_Splice_Site|NLRP1_ENST00000577119.1_Splice_Site|NLRP1_ENST00000572272.1_Splice_Site|NLRP1_ENST00000262467.5_Splice_Site|NLRP1_ENST00000269280.4_Splice_Site|NLRP1_ENST00000571307.1_Splice_Site	NM_014922.4|NM_033004.3|NM_033007.3	NP_055737.1|NP_127497.1|NP_127500.1	Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1						defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	cytoplasm|NALP1 inflammasome complex|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				TGGGTACTCACAGGACTACCA	0.567													15	44					0	0	1	0	0	T	5461658	C	T	5461658	5	4	81	1	0	0	0	0	0	0	1	0	10518	492	17	2	2194	2	NLRP1	17	5461658	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	27848	5461658	75733552	11996	15612											
NLRP1	22861	broad.mit.edu	37	17	5461726	5461726	+	Missense_Mutation	SNP	C	C	T	rs140677797		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:5461726C>T	ENST00000345221.3	-	4	2844	c.2290G>A	c.(2290-2292)Gtg>Atg	p.V764M	NLRP1_ENST00000354411.3_Missense_Mutation_p.V764M|NLRP1_ENST00000577119.1_Missense_Mutation_p.V764M|NLRP1_ENST00000572272.1_Missense_Mutation_p.V764M|NLRP1_ENST00000262467.5_Missense_Mutation_p.V764M|NLRP1_ENST00000269280.4_Missense_Mutation_p.V764M|NLRP1_ENST00000571307.1_5'UTR	NM_014922.4|NM_033004.3|NM_033007.3	NP_055737.1|NP_127497.1|NP_127500.1	Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	764					defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	cytoplasm|NALP1 inflammasome complex|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				AGCTTCTTCACGTGGCGGCTG	0.512													8	70					0	0	1	0	0	T	5461726	C	T	5461726	3	4	81	1	0	0	0	0	1	0	0	0	10518	536	19	1	2262	1	NLRP1	17	5461726	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	68	5461726	75733484	11997	15613											
NLRP1	22861	broad.mit.edu	37	17	5463309	5463309	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:5463309G>A	ENST00000345221.3	-	4	1261	c.707C>T	c.(706-708)gCg>gTg	p.A236V	NLRP1_ENST00000354411.3_Missense_Mutation_p.A236V|NLRP1_ENST00000577119.1_Missense_Mutation_p.A236V|NLRP1_ENST00000572272.1_Missense_Mutation_p.A236V|NLRP1_ENST00000262467.5_Missense_Mutation_p.A236V|NLRP1_ENST00000269280.4_Missense_Mutation_p.A236V|NLRP1_ENST00000571307.1_5'UTR	NM_014922.4|NM_033004.3|NM_033007.3	NP_055737.1|NP_127497.1|NP_127500.1	Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	236					defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	cytoplasm|NALP1 inflammasome complex|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				TCCTACCACCGCTGCCCATGG	0.552													23	38					0	0	1	0	0	A	5463309	G	A	5463309	3	1	81	1	0	0	0	0	1	0	0	0	10518	1087	38	1	3845	1	NLRP1	17	5463309	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1583	5463309	75731901	11998	15614											
NLRP1	22861	broad.mit.edu	37	17	5487182	5487182	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:5487182C>T	ENST00000345221.3	-	1	650	c.96G>A	c.(94-96)gcG>gcA	p.A32A	NLRP1_ENST00000354411.3_Silent_p.A32A|NLRP1_ENST00000577119.1_Silent_p.A32A|NLRP1_ENST00000572272.1_Silent_p.A32A|NLRP1_ENST00000262467.5_Silent_p.A32A|NLRP1_ENST00000269280.4_Silent_p.A32A|NLRP1_ENST00000571307.1_5'UTR	NM_014922.4|NM_033004.3|NM_033007.3	NP_055737.1|NP_127497.1|NP_127500.1	Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	32	DAPIN.				defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	cytoplasm|NALP1 inflammasome complex|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				TCCTGGAGTGCGCTTTATTGG	0.617													9	7					0	0	1	0	0	T	5487182	C	T	5487182	2	4	81	1	0	0	0	0	0	0	0	1	10518	755	27	1		1	NLRP1	17	5487182	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	23873	5487182	75708028	11999	15615											
PITPNM3	83394	broad.mit.edu	37	17	6364870	6364870	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:6364870C>A	ENST00000262483.8	-	18	2400	c.2313G>T	c.(2311-2313)tgG>tgT	p.W771C	PITPNM3_ENST00000421306.3_Missense_Mutation_p.W735C|PITPNM3_ENST00000576664.1_5'UTR	NM_031220.3	NP_112497.2	Q9BZ71	PITM3_HUMAN	PITPNM family member 3						phosphatidylinositol metabolic process	endomembrane system|integral to membrane	calcium ion binding|lipid binding|phosphatidylinositol transporter activity|receptor tyrosine kinase binding			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(3)|skin(2)	36				Colorectal(2;0.000372)|READ - Rectum adenocarcinoma(2;0.0276)|LUAD - Lung adenocarcinoma(2;0.0836)|COAD - Colon adenocarcinoma(228;0.185)		CCAAGTCCTGCCAGTGCCTGG	0.632													41	61					6.1244e-12	7.62814e-12	1	1	0	A	6364870	C	A	6364870	3	1	81	1	0	0	0	0	1	0	0	0	12000	740	26	5	623	5	PITPNM3	17	6364870	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	877688	6364870	74830340	12000	15616											
KIAA0753	9851	broad.mit.edu	37	17	6515250	6515250	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:6515250C>A	ENST00000361413.3	-	8	1892	c.1534G>T	c.(1534-1536)Gca>Tca	p.A512S	KIAA0753_ENST00000572370.1_Missense_Mutation_p.A213S|KIAA0753_ENST00000542606.1_Missense_Mutation_p.A213S|KIAA0753_ENST00000589033.1_Intron	NM_014804.2	NP_055619.2	Q2KHM9	K0753_HUMAN	KIAA0753	512						centrosome				endometrium(4)|large_intestine(11)|lung(5)|prostate(4)	24				COAD - Colon adenocarcinoma(228;0.157)		TGCTGTCTTGCTGGCGCCAGA	0.443													65	123					1.08241e-25	1.43319e-25	1	1	0	A	6515250	C	A	6515250	3	1	81	1	0	0	0	0	1	0	0	0	8233	797	28	4	1417	4	KIAA0753	17	6515250	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	150380	6515250	74679960	12001	15617											
KIAA0753	9851	broad.mit.edu	37	17	6515458	6515458	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:6515458C>T	ENST00000361413.3	-	8	1684	c.1326G>A	c.(1324-1326)caG>caA	p.Q442Q	KIAA0753_ENST00000572370.1_Silent_p.Q143Q|KIAA0753_ENST00000542606.1_Silent_p.Q143Q|KIAA0753_ENST00000589033.1_Intron	NM_014804.2	NP_055619.2	Q2KHM9	K0753_HUMAN	KIAA0753	442						centrosome				endometrium(4)|large_intestine(11)|lung(5)|prostate(4)	24				COAD - Colon adenocarcinoma(228;0.157)		CCGTATCGGGCTGATACTTAT	0.393													14	31					0	0	1	0	0	T	6515458	C	T	6515458	2	4	81	1	0	0	0	0	0	0	0	1	8233	796	28	2		2	KIAA0753	17	6515458	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	208	6515458	74679752	12002	15618											
KIAA0753	9851	broad.mit.edu	37	17	6524242	6524242	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:6524242A>C	ENST00000361413.3	-	7	1539	c.1181T>G	c.(1180-1182)tTt>tGt	p.F394C	KIAA0753_ENST00000572370.1_Missense_Mutation_p.F95C|KIAA0753_ENST00000542606.1_Missense_Mutation_p.F95C	NM_014804.2	NP_055619.2	Q2KHM9	K0753_HUMAN	KIAA0753	394						centrosome				endometrium(4)|large_intestine(11)|lung(5)|prostate(4)	24				COAD - Colon adenocarcinoma(228;0.157)		ACCGATAGGAAATCTGCTCCG	0.443													10	97					0	0	1	0	0	C	6524242	A	C	6524242	3	2	81	1	0	0	0	0	1	0	0	0	8233	14	1	5	1774	5	KIAA0753	17	6524242	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	8784	6524242	74670968	12003	15619											
KIAA0753	9851	broad.mit.edu	37	17	6531734	6531734	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:6531734C>T	ENST00000361413.3	-	3	779	c.421G>A	c.(421-423)Gac>Aac	p.D141N	KIAA0753_ENST00000572370.1_5'UTR|KIAA0753_ENST00000542606.1_5'UTR	NM_014804.2	NP_055619.2	Q2KHM9	K0753_HUMAN	KIAA0753	141						centrosome				endometrium(4)|large_intestine(11)|lung(5)|prostate(4)	24				COAD - Colon adenocarcinoma(228;0.157)		ACCCTGTGGTCGGGTATTTTA	0.423													24	30					0	0	1	0	0	T	6531734	C	T	6531734	3	4	81	1	0	0	0	0	1	0	0	0	8233	884	31	1	2550	1	KIAA0753	17	6531734	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	7492	6531734	74663476	12004	15620											
SLC13A5	284111	broad.mit.edu	37	17	6606399	6606399	+	Missense_Mutation	SNP	C	C	A	rs143914994	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:6606399C>A	ENST00000433363.2	-	5	839	c.606G>T	c.(604-606)aaG>aaT	p.K202N	SLC13A5_ENST00000573648.1_Missense_Mutation_p.K202N|SLC13A5_ENST00000381074.4_Missense_Mutation_p.K159N|SLC13A5_ENST00000293800.6_Missense_Mutation_p.K185N	NM_001284510.1|NM_177550.3	NP_001271439.1|NP_808218.1	Q86YT5	S13A5_HUMAN	solute carrier family 13 (sodium-dependent citrate transporter), member 5	202						integral to membrane	citrate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|prostate(5)|skin(3)|urinary_tract(1)	26						TACACAACCTCTTCCGCTCTT	0.637													24	43					3.08376e-08	3.65884e-08	1	1	0	A	6606399	C	A	6606399	3	1	81	1	0	0	0	0	1	0	0	0	14450	912	32	4	1132	4	SLC13A5	17	6606399	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	74665	6606399	74588811	12005	15621											
FBXO39	162517	broad.mit.edu	37	17	6683425	6683425	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:6683425T>C	ENST00000321535.4	+	2	368	c.238T>C	c.(238-240)Tgg>Cgg	p.W80R		NM_153230.2	NP_694962.1	Q8N4B4	FBX39_HUMAN	F-box protein 39	80										NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	26						GTCAGCTGTTTGGTATGTTAA	0.478													7	131					0	0	1	0	0	C	6683425	T	C	6683425	3	2	81	1	0	0	0	0	1	0	0	0	5780	1812	63	3	240	3	FBXO39	17	6683425	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	77026	6683425	74511785	12006	15622											
FBXO39	162517	broad.mit.edu	37	17	6683897	6683897	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:6683897C>T	ENST00000321535.4	+	2	840	c.710C>T	c.(709-711)tCc>tTc	p.S237F		NM_153230.2	NP_694962.1	Q8N4B4	FBX39_HUMAN	F-box protein 39	237										NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	26						AACTGTATCTCCGACGAGCTG	0.512													5	74					0	0	1	0	0	T	6683897	C	T	6683897	3	4	81	1	0	0	0	0	1	0	0	0	5780	855	30	2	712	2	FBXO39	17	6683897	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	472	6683897	74511313	12007	15623											
BCL6B	255877	broad.mit.edu	37	17	6929875	6929875	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:6929875G>A	ENST00000293805.5	+	6	1081	c.989G>A	c.(988-990)tGt>tAt	p.C330Y		NM_181844.3	NP_862827	Q8N143	BCL6B_HUMAN	B-cell CLL/lymphoma 6, member B	330						nucleus	zinc ion binding			skin(1)	1						CCCTATAAGTGTCAGCTGTGC	0.572													49	60					0	0	1	0	0	A	6929875	G	A	6929875	3	1	81	1	0	0	0	0	1	0	0	0	1375	1377	48	2	1007	2	BCL6B	17	6929875	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	245978	6929875	74265335	12008	15624											
CLEC10A	10462	broad.mit.edu	37	17	6978460	6978460	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:6978460G>A	ENST00000254868.4	-	9	1192	c.864C>T	c.(862-864)gaC>gaT	p.D288D	CLEC10A_ENST00000576617.1_3'UTR|CLEC10A_ENST00000416562.2_Silent_p.D261D|CLEC10A_ENST00000571664.1_Silent_p.D264D	NM_182906.2	NP_878910.1	Q8IUN9	CLC10_HUMAN	C-type lectin domain family 10, member A	288	C-type lectin.				endocytosis|innate immune response	integral to membrane|plasma membrane	sugar binding			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	10						TCCACCTGCCGTCTGGATGGA	0.627													20	30					0	0	1	0	0	A	6978460	G	A	6978460	2	1	81	1	0	0	0	0	0	0	0	1	3518	1136	40	1		1	CLEC10A	17	6978460	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	48585	6978460	74216750	12009	15625											
ASGR1	432	broad.mit.edu	37	17	7077130	7077130	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7077130C>T	ENST00000574388.1	-	7	1399	c.607G>A	c.(607-609)Gac>Aac	p.D203N	ASGR1_ENST00000269299.3_Missense_Mutation_p.D242N|ASGR1_ENST00000380920.4_Missense_Mutation_p.D141N			P07306	ASGR1_HUMAN	asialoglycoprotein receptor 1	242	C-type lectin.				receptor-mediated endocytosis	integral to plasma membrane	asialoglycoprotein receptor activity|metal ion binding|sugar binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)|urinary_tract(1)	10						TACCAGTCGTCCGGCTGCTCC	0.711													21	50					0	0	1	0	0	T	7077130	C	T	7077130	3	4	81	1	0	0	0	0	1	0	0	0	1038	855	30	2	155	2	ASGR1	17	7077130	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	98670	7077130	74118080	12010	15626											
DLG4	1742	broad.mit.edu	37	17	7094074	7094074	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7094074C>T	ENST00000399510.2	-	22	3109	c.2257G>A	c.(2257-2259)Gac>Aac	p.D753N	DLG4_ENST00000302955.6_Missense_Mutation_p.D707N|DLG4_ENST00000399506.2_Missense_Mutation_p.D710N	NM_001365.3	NP_001356.1	P78352	DLG4_HUMAN	discs, large homolog 4 (Drosophila)	710					axon guidance|learning|protein complex assembly|protein localization to synapse|signal transduction|synaptic transmission	cell junction|cortical cytoskeleton|endocytic vesicle membrane|neuron spine|postsynaptic density|postsynaptic membrane|synaptosome	protein binding|protein C-terminus binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)	18						CCTGAGAGGTCCTCGATGACA	0.622													10	60					0	0	1	0	0	T	7094074	C	T	7094074	3	4	81	1	0	0	0	0	1	0	0	0	4585	855	30	2	50	2	DLG4	17	7094074	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	16944	7094074	74101136	12011	15627											
DLG4	1742	broad.mit.edu	37	17	7099810	7099810	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7099810C>T	ENST00000399510.2	-	12	2149	c.1297G>A	c.(1297-1299)Gct>Act	p.A433T	DLG4_ENST00000302955.6_Missense_Mutation_p.A387T|DLG4_ENST00000399506.2_Missense_Mutation_p.A390T	NM_001365.3	NP_001356.1	P78352	DLG4_HUMAN	discs, large homolog 4 (Drosophila)	390	SH3.				axon guidance|learning|protein complex assembly|protein localization to synapse|signal transduction|synaptic transmission	cell junction|cortical cytoskeleton|endocytic vesicle membrane|neuron spine|postsynaptic density|postsynaptic membrane|synaptosome	protein binding|protein C-terminus binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)	18						TTATACTGAGCGATGATCGTG	0.547													15	26					0	0	1	0	0	T	7099810	C	T	7099810	3	4	81	1	0	0	0	0	1	0	0	0	4585	768	27	1	1050	1	DLG4	17	7099810	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	5736	7099810	74095400	12012	15628											
DLG4	1742	broad.mit.edu	37	17	7100196	7100196	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7100196C>T	ENST00000399510.2	-	11	1944	c.1092G>A	c.(1090-1092)acG>acA	p.T364T	DLG4_ENST00000302955.6_Silent_p.T318T|DLG4_ENST00000399506.2_Silent_p.T321T	NM_001365.3	NP_001356.1	P78352	DLG4_HUMAN	discs, large homolog 4 (Drosophila)	321	PDZ 3.				axon guidance|learning|protein complex assembly|protein localization to synapse|signal transduction|synaptic transmission	cell junction|cortical cytoskeleton|endocytic vesicle membrane|neuron spine|postsynaptic density|postsynaptic membrane|synaptosome	protein binding|protein C-terminus binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)	18						AGCCCAGGCCCGTGGAGCCCC	0.642													7	14					0	0	1	0	0	T	7100196	C	T	7100196	2	4	81	1	0	0	0	0	0	0	0	1	4585	639	23	1		1	DLG4	17	7100196	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	386	7100196	74095014	12013	15629											
CLDN7	1366	broad.mit.edu	37	17	7165231	7165231	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7165231C>A	ENST00000538261.3	-	1	1033	c.132G>T	c.(130-132)caG>caT	p.Q44H	CLDN7_ENST00000360325.7_Missense_Mutation_p.Q44H|RP1-4G17.5_ENST00000577138.1_Missense_Mutation_p.Q44H|CLDN7_ENST00000571881.2_Missense_Mutation_p.Q44H|CLDN7_ENST00000397317.4_Missense_Mutation_p.Q44H	NM_001185023.1	NP_001171952.1	O95471	CLD7_HUMAN	claudin 7	44					calcium-independent cell-cell adhesion	integral to membrane|lateral plasma membrane|tight junction	identical protein binding|structural molecule activity			kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	6						TGTACATGGCCTGGGCCGTGA	0.632													15	13					2.61681e-11	3.23796e-11	1	1	0	A	7165231	C	A	7165231	3	1	81	1	0	0	0	0	1	0	0	0	3513	680	24	4	519	4	CLDN7	17	7165231	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	65035	7165231	74029979	12014	15630											
SLC2A4	6517	broad.mit.edu	37	17	7187151	7187151	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7187151C>T	ENST00000317370.8	+	4	686	c.418C>T	c.(418-420)Ctt>Ttt	p.L140F	RP1-4G17.2_ENST00000576271.1_RNA|SLC2A4_ENST00000571308.1_Missense_Mutation_p.L140F|SLC2A4_ENST00000424875.2_Missense_Mutation_p.L130F	NM_001042.2	NP_001033.1	P14672	GTR4_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 4	140					carbohydrate metabolic process|glucose homeostasis|glucose import	external side of plasma membrane|integral to plasma membrane|perinuclear region of cytoplasm	D-glucose transmembrane transporter activity|protein binding			breast(1)|endometrium(3)|large_intestine(7)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17						AATGCTCATCCTTGGACGATT	0.592													21	19					0	0	1	0	0	T	7187151	C	T	7187151	3	4	81	1	0	0	0	0	1	0	0	0	14601	681	24	2	432	2	SLC2A4	17	7187151	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	21920	7187151	74008059	12015	15631											
NEURL4	84461	broad.mit.edu	37	17	7224923	7224923	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7224923G>A	ENST00000399464.2	-	18	3070	c.3055C>T	c.(3055-3057)Cag>Tag	p.Q1019*	NEURL4_ENST00000315614.7_Nonsense_Mutation_p.Q1017*|NEURL4_ENST00000570460.1_Nonsense_Mutation_p.Q995*	NM_032442.2	NP_115818.2			neuralized E3 ubiquitin protein ligase 4											central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CTCTGGAGCTGCCCATCACGC	0.652													7	66					0	0	1	0	0	A	7224923	G	A	7224923	4	1	81	1	0	0	0	0	0	1	0	0	10394	1328	46	2	1681	2	NEURL4	17	7224923	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	37772	7224923	73970287	12016	15632											
NEURL4	84461	broad.mit.edu	37	17	7224947	7224947	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7224947T>G	ENST00000399464.2	-	18	3046	c.3031A>C	c.(3031-3033)Agc>Cgc	p.S1011R	NEURL4_ENST00000315614.7_Missense_Mutation_p.S1009R|NEURL4_ENST00000570460.1_Missense_Mutation_p.S987R	NM_032442.2	NP_115818.2			neuralized E3 ubiquitin protein ligase 4											central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						ACTTCACAGCTGGATACCATC	0.652													6	62					0	0	1	0	0	G	7224947	T	G	7224947	3	3	81	1	0	0	0	0	1	0	0	0	10394	1580	55	5	1705	5	NEURL4	17	7224947	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	24	7224947	73970263	12017	15633											
NEURL4	84461	broad.mit.edu	37	17	7225281	7225281	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7225281G>A	ENST00000399464.2	-	17	2789	c.2774C>T	c.(2773-2775)aCt>aTt	p.T925I	NEURL4_ENST00000315614.7_Missense_Mutation_p.T923I|NEURL4_ENST00000570460.1_Missense_Mutation_p.T901I	NM_032442.2	NP_115818.2			neuralized E3 ubiquitin protein ligase 4											central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CTCCTCTAGAGTGACGTTCTT	0.572													4	48					0	0	1	0	0	A	7225281	G	A	7225281	3	1	81	1	0	0	0	0	1	0	0	0	10394	1029	36	2	1966	2	NEURL4	17	7225281	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	334	7225281	73969929	12018	15634											
NEURL4	84461	broad.mit.edu	37	17	7227169	7227169	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7227169C>T	ENST00000399464.2	-	12	2240	c.2225G>A	c.(2224-2226)cGc>cAc	p.R742H	NEURL4_ENST00000315614.7_Missense_Mutation_p.R742H|NEURL4_ENST00000570460.1_Missense_Mutation_p.R720H	NM_032442.2	NP_115818.2			neuralized E3 ubiquitin protein ligase 4									p.R742H(2)		central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						AAACTCGCTGCGACAGTTGTG	0.612													29	54					0	0	1	0	0	T	7227169	C	T	7227169	3	4	81	1	0	0	0	0	1	0	0	0	10394	768	27	1	2535	1	NEURL4	17	7227169	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1888	7227169	73968041	12019	15635											
NEURL4	84461	broad.mit.edu	37	17	7227784	7227784	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7227784G>A	ENST00000399464.2	-	10	1844	c.1829C>T	c.(1828-1830)aCt>aTt	p.T610I	NEURL4_ENST00000315614.7_Missense_Mutation_p.T610I|NEURL4_ENST00000570460.1_Missense_Mutation_p.T588I	NM_032442.2	NP_115818.2			neuralized E3 ubiquitin protein ligase 4											central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CCCATTCCCAGTCATCATCCA	0.627											OREG0024134	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	28					0	0	1	0	0	A	7227784	G	A	7227784	3	1	81	1	0	0	0	0	1	0	0	0	10394	1029	36	2	2939	2	NEURL4	17	7227784	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	615	7227784	73967426	12020	15636											
NEURL4	84461	broad.mit.edu	37	17	7231164	7231164	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7231164C>T	ENST00000399464.2	-	2	337	c.322G>A	c.(322-324)Gcg>Acg	p.A108T	NEURL4_ENST00000315614.7_Missense_Mutation_p.A108T|NEURL4_ENST00000570460.1_Missense_Mutation_p.A108T	NM_032442.2	NP_115818.2			neuralized E3 ubiquitin protein ligase 4											central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GGGTCCAGCGCTGTCACCCCA	0.617													10	10					0	0	1	0	0	T	7231164	C	T	7231164	3	4	81	1	0	0	0	0	1	0	0	0	10394	797	28	2	4478	2	NEURL4	17	7231164	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3380	7231164	73964046	12021	15637											
ACAP1	9744	broad.mit.edu	37	17	7252368	7252368	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7252368C>T	ENST00000158762.3	+	18	1939	c.1733C>T	c.(1732-1734)gCg>gTg	p.A578V		NM_014716.3	NP_055531.1	Q15027	ACAP1_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 1	578	Required for interaction with GULP1.				intracellular signal transduction|lipid metabolic process|protein transport|regulation of ARF GTPase activity		ARF GTPase activator activity|phospholipase C activity|protein binding|zinc ion binding			NS(1)|breast(5)|cervix(3)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(3)|skin(1)|urinary_tract(1)	33						CTGTTTCGAGCGTCTGGGCAT	0.602													32	43					0	0	1	0	0	T	7252368	C	T	7252368	3	4	81	1	0	0	0	0	1	0	0	0	118	768	27	1	1803	1	ACAP1	17	7252368	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	21204	7252368	73942842	12022	15638											
KCTD11	147040	broad.mit.edu	37	17	7256633	7256633	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7256633C>T	ENST00000333751.3	+	1	1426	c.372C>T	c.(370-372)gcC>gcT	p.A124A	RP11-542C16.1_ENST00000572417.1_RNA	NM_001002914.2	NP_001002914.1	Q693B1	KCD11_HUMAN	potassium channel tetramerization domain containing 11	124					cell cycle|regulation of growth	voltage-gated potassium channel complex	voltage-gated potassium channel activity			kidney(1)|large_intestine(2)|lung(1)	4		Prostate(122;0.157)				CCTTCCGAGCCAACCTTTTCT	0.602													38	41					0	0	1	0	0	T	7256633	C	T	7256633	2	4	81	1	0	0	0	0	0	0	0	1	8142	581	21	2		2	KCTD11	17	7256633	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	4265	7256633	73938577	12023	15639											
NLGN2	57555	broad.mit.edu	37	17	7311772	7311772	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7311772C>T	ENST00000302926.2	+	1	271	c.198C>T	c.(196-198)gtC>gtT	p.V66V	NLGN2_ENST00000575301.1_Silent_p.V66V|NLGN2_ENST00000572893.1_Intron	NM_020795.2	NP_065846.1	Q8NFZ4	NLGN2_HUMAN	neuroligin 2	66					cell-cell junction maintenance|neuron cell-cell adhesion|positive regulation of synaptogenesis|regulation of inhibitory postsynaptic membrane potential|synapse assembly	cell surface|integral to plasma membrane|postsynaptic membrane	neurexin binding|receptor activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|prostate(2)|skin(3)	22		Prostate(122;0.157)				TGGGCCCCGTCGTGCAGTTCT	0.746													3	2					0	0	1	0	0	T	7311772	C	T	7311772	2	4	81	1	0	0	0	0	0	0	0	1	10509	871	31	1		1	NLGN2	17	7311772	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	55139	7311772	73883438	12024	15640											
NLGN2	57555	broad.mit.edu	37	17	7319304	7319304	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7319304G>A	ENST00000302926.2	+	6	1585	c.1512G>A	c.(1510-1512)ctG>ctA	p.L504L	NLGN2_ENST00000575301.1_Silent_p.L504L	NM_020795.2	NP_065846.1	Q8NFZ4	NLGN2_HUMAN	neuroligin 2	504					cell-cell junction maintenance|neuron cell-cell adhesion|positive regulation of synaptogenesis|regulation of inhibitory postsynaptic membrane potential|synapse assembly	cell surface|integral to plasma membrane|postsynaptic membrane	neurexin binding|receptor activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|prostate(2)|skin(3)	22		Prostate(122;0.157)				GGGATGAACTGCCCTATGTCT	0.597													4	46					0	0	1	0	0	A	7319304	G	A	7319304	2	1	81	1	0	0	0	0	0	0	0	1	10509	1306	46	2		2	NLGN2	17	7319304	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	7532	7319304	73875906	12025	15641											
NLGN2	57555	broad.mit.edu	37	17	7319374	7319374	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7319374G>A	ENST00000302926.2	+	6	1655	c.1582G>A	c.(1582-1584)Gtc>Atc	p.V528I	NLGN2_ENST00000575301.1_Missense_Mutation_p.V528I	NM_020795.2	NP_065846.1	Q8NFZ4	NLGN2_HUMAN	neuroligin 2	528					cell-cell junction maintenance|neuron cell-cell adhesion|positive regulation of synaptogenesis|regulation of inhibitory postsynaptic membrane potential|synapse assembly	cell surface|integral to plasma membrane|postsynaptic membrane	neurexin binding|receptor activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|prostate(2)|skin(3)	22		Prostate(122;0.157)				CAAGAATGACGTCATGCTCAG	0.637													15	22					0	0	1	0	0	A	7319374	G	A	7319374	3	1	81	1	0	0	0	0	1	0	0	0	10509	1145	40	1	1604	1	NLGN2	17	7319374	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	70	7319374	73875836	12026	15642											
SPEM1	374768	broad.mit.edu	37	17	7324242	7324243	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7324242_7324243insA	ENST00000323675.3	+	3	273_274	c.248_249insA	c.(247-252)cctaagfs	p.K84fs	RP11-104H15.7_ENST00000575310.1_RNA	NM_199339.2	NP_955371.2	Q8N4L4	SPEM1_HUMAN	spermatid maturation 1	84					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm|integral to membrane				endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	12		Prostate(122;0.173)				ACCCAGCCCCCTAAGAAGCAGA	0.594													16	122	---	---	---	---						A	7324243	-	A	7324242	7	5	81	1	0	1	1	0	0	0	0	0	15093	681	24	0	258	0	SPEM1	17	7324242	Frame_Shift_Ins	INS	-	TCGA-DU-6392-01A-11D-1705-08	4868	7324242	73870968	12027	15643											
C17orf74	201243	broad.mit.edu	37	17	7329070	7329070	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7329070C>T	ENST00000333870.3	+	1	137	c.63C>T	c.(61-63)caC>caT	p.H21H	C17orf74_ENST00000574034.1_Silent_p.H21H|RP11-104H15.7_ENST00000575310.1_RNA	NM_175734.4	NP_783861.3	Q0P670	CQ074_HUMAN	chromosome 17 open reading frame 74	21						integral to membrane				cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	22		Prostate(122;0.157)				AAAGCCCCCACGATGCCGAGG	0.547													102	180					0	0	1	0	0	T	7329070	C	T	7329070	2	4	81	1	0	0	0	0	0	0	0	1	1889	535	19	1		1	C17orf74	17	7329070	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	4828	7329070	73866140	12028	15644											
CHRNB1	1140	broad.mit.edu	37	17	7350450	7350450	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7350450C>T	ENST00000306071.2	+	5	509	c.442C>T	c.(442-444)Cgc>Tgc	p.R148C	CHRNB1_ENST00000536404.2_Missense_Mutation_p.R76C|CHRNB1_ENST00000576360.1_Missense_Mutation_p.R76C	NM_000747.2	NP_000738.2	P11230	ACHB_HUMAN	cholinergic receptor, nicotinic, beta 1 (muscle)	148					behavioral response to nicotine|muscle contraction|muscle fiber development|neuromuscular synaptic transmission|postsynaptic membrane organization|regulation of membrane potential|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine binding|receptor activity			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|ovary(3)	23		Prostate(122;0.157)				GGGCATCTATCGCAGCAGCTG	0.572													20	21					0	0	1	0	0	T	7350450	C	T	7350450	3	4	81	1	0	0	0	0	1	0	0	0	3412	884	31	1	460	1	CHRNB1	17	7350450	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	21380	7350450	73844760	12029	15645											
POLR2A	5430	broad.mit.edu	37	17	7399865	7399865	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7399865G>T	ENST00000322644.6	+	4	869	c.470G>T	c.(469-471)gGg>gTg	p.G157V	POLR2A_ENST00000572844.1_Missense_Mutation_p.G157V	NM_000937.4	NP_000928	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	157					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				TGCGAGGGTGGGGAGGAGATG	0.532													12	133					1.49906e-05	1.6816e-05	1	1	0	T	7399865	G	T	7399865	3	4	81	1	0	0	0	0	1	0	0	0	12262	1232	43	5	484	5	POLR2A	17	7399865	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	49415	7399865	73795345	12030	15646											
POLR2A	5430	broad.mit.edu	37	17	7405278	7405278	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7405278G>T	ENST00000322644.6	+	15	2808	c.2409G>T	c.(2407-2409)aaG>aaT	p.K803N		NM_000937.4	NP_000928	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	803					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				TTGGCTTCAAGCACCGGACTC	0.547													16	40					5.03518e-11	6.21509e-11	1	1	0	T	7405278	G	T	7405278	3	4	81	1	0	0	0	0	1	0	0	0	12262	962	34	4	2467	4	POLR2A	17	7405278	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	5413	7405278	73789932	12031	15647											
TNFSF12-TNFSF13	407977	broad.mit.edu	37	17	7460102	7460102	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7460102C>T	ENST00000293826.4	+	6	436	c.381C>T	c.(379-381)gaC>gaT	p.D127D	TNFSF12_ENST00000557233.1_Silent_p.D127D|TNFSF12_ENST00000293825.6_Silent_p.D127D|TNFSF12_ENST00000462811.1_3'UTR	NM_172089.3	NP_742086.1	Q8IZK7	Q8IZK7_HUMAN		127					immune response	extracellular space|membrane	cytokine activity|tumor necrosis factor receptor binding			central_nervous_system(1)|large_intestine(2)	3		Prostate(122;0.157)				CAGGTGTGGACGGGACAGTGA	0.577													17	15					0	0	1	0	0	T	7460102	C	T	7460102	2	4	81	1	0	0	0	0	0	0	0	1	16364	535	19	1		1	TNFSF12-TNFSF13	17	7460102	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	54824	7460102	73735108	12032	15648											
SENP3	26168	broad.mit.edu	37	17	7468005	7468005	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7468005G>T	ENST00000321337.7	+	3	1099	c.779G>T	c.(778-780)aGc>aTc	p.S260I	SENP3-EIF4A1_ENST00000579777.1_RNA|SENP3_ENST00000578868.1_3'UTR|SENP3_ENST00000429205.2_Missense_Mutation_p.S260I	NM_015670.5	NP_056485.2	Q9H4L4	SENP3_HUMAN	SUMO1/sentrin/SMT3 specific peptidase 3	260					proteolysis	MLL1 complex|nucleolus	cysteine-type peptidase activity			central_nervous_system(1)|ovary(1)	2		Prostate(122;0.157)				GGGGAGCGCAGCTTGGCACCC	0.572													18	25					1.85244e-09	2.23954e-09	1	1	0	T	7468005	G	T	7468005	3	4	81	1	0	0	0	0	1	0	0	0	14102	971	34	4	785	4	SENP3	17	7468005	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	7903	7468005	73727205	12033	15649											
EIF4A1	1973	broad.mit.edu	37	17	7480800	7480800	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7480800C>T	ENST00000293831.8	+	7	779	c.763C>T	c.(763-765)Cga>Tga	p.R255*	SENP3-EIF4A1_ENST00000579777.1_RNA|EIF4A1_ENST00000582746.1_Nonsense_Mutation_p.R255*|EIF4A1_ENST00000577269.1_Nonsense_Mutation_p.R255*	NM_001416.3	NP_001407.1	P60842	IF4A1_HUMAN	eukaryotic translation initiation factor 4A1	255	Helicase C-terminal.				nuclear-transcribed mRNA poly(A) tail shortening	cytosol|eukaryotic translation initiation factor 4F complex	ATP binding|ATP-dependent helicase activity|mRNA binding|protein binding|RNA cap binding|translation initiation factor activity			NS(1)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	22						CAACGTGGAACGAGAGGTGGG	0.552													25	29					0	0	1	0	0	T	7480800	C	T	7480800	4	4	81	1	0	0	0	0	0	1	0	0	5052	528	19	1	789	1	EIF4A1	17	7480800	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	12795	7480800	73714410	12034	15650											
EIF4A1	1973	broad.mit.edu	37	17	7481533	7481533	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7481533T>C	ENST00000293831.8	+	10	1063	c.1047T>C	c.(1045-1047)ctT>ctC	p.L349L	SENP3-EIF4A1_ENST00000579777.1_RNA|EIF4A1_ENST00000582746.1_Intron|EIF4A1_ENST00000577269.1_Intron	NM_001416.3	NP_001407.1	P60842	IF4A1_HUMAN	eukaryotic translation initiation factor 4A1	349	Helicase C-terminal.				nuclear-transcribed mRNA poly(A) tail shortening	cytosol|eukaryotic translation initiation factor 4F complex	ATP binding|ATP-dependent helicase activity|mRNA binding|protein binding|RNA cap binding|translation initiation factor activity			NS(1)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	22						ACTATGACCTTCCCACCAACA	0.498													4	50					0	0	1	0	0	C	7481533	T	C	7481533	2	2	81	1	0	0	0	0	0	0	0	1	5052	1770	62	3		3	EIF4A1	17	7481533	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	733	7481533	73713677	12035	15651											
CD68	968	broad.mit.edu	37	17	7484215	7484215	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7484215G>A	ENST00000250092.6	+	5	973	c.762G>A	c.(760-762)caG>caA	p.Q254Q	CD68_ENST00000380498.6_Splice_Site_p.Q227Q	NM_001251.2	NP_001242.2	P34810	CD68_HUMAN	CD68 molecule	254			Q -> K (in dbSNP:rs25679).			endosome membrane|integral to membrane|lysosomal membrane|membrane fraction|plasma membrane				endometrium(1)|lung(1)|skin(1)	3						CTCCTCCAGAGTGGACATTCT	0.547													26	31					0	0	1	0	0	A	7484215	G	A	7484215	5	1	81	1	0	0	0	0	0	0	1	0	3052	1043	36	2	780	2	CD68	17	7484215	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2682	7484215	73710995	12036	15652											
MPDU1	9526	broad.mit.edu	37	17	7490863	7490863	+	Silent	SNP	G	G	A	rs148905577		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7490863G>A	ENST00000250124.6	+	7	954	c.738G>A	c.(736-738)gcG>gcA	p.A246A	MPDU1_ENST00000396501.4_3'UTR|MPDU1_ENST00000423172.2_Intron	NM_004870.3	NP_004861.2	O75352	MPU1_HUMAN	mannose-P-dolichol utilization defect 1	246					dolichol-linked oligosaccharide biosynthetic process|protein folding	endoplasmic reticulum membrane|integral to membrane|mitochondrion	protein binding			central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(1)|lung(1)	7						AGAAAAAGGCGCAGTAGAGCC	0.562													18	29					0	0	1	0	0	A	7490863	G	A	7490863	2	1	81	1	0	0	0	0	0	0	0	1	9770	1074	38	1		1	MPDU1	17	7490863	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	6648	7490863	73704347	12037	15653											
FXR2	9513	broad.mit.edu	37	17	7495189	7495189	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7495189C>T	ENST00000250113.7	-	17	2315	c.1981G>A	c.(1981-1983)Gcc>Acc	p.A661T	FXR2_ENST00000573057.1_5'UTR|MPDU1_ENST00000423172.2_Intron	NM_004860.3	NP_004851.2	P51116	FXR2_HUMAN	fragile X mental retardation, autosomal homolog 2	661						cytosolic large ribosomal subunit	protein binding|RNA binding			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)	26				READ - Rectum adenocarcinoma(115;0.17)		TCCAAGGGGGCGGAGAGCTCC	0.557													6	27					0	0	1	0	0	T	7495189	C	T	7495189	3	4	81	1	0	0	0	0	1	0	0	0	6151	768	27	1		1	FXR2	17	7495189	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	4326	7495189	73700021	12038	15654											
FXR2	9513	broad.mit.edu	37	17	7496092	7496092	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7496092C>T	ENST00000250113.7	-	14	1983	c.1649G>A	c.(1648-1650)cGc>cAc	p.R550H	MPDU1_ENST00000423172.2_3'UTR	NM_004860.3	NP_004851.2	P51116	FXR2_HUMAN	fragile X mental retardation, autosomal homolog 2	550	Poly-Arg.					cytosolic large ribosomal subunit	protein binding|RNA binding			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)	26				READ - Rectum adenocarcinoma(115;0.17)		AGTGCGGCGGCGGCGGGAGCG	0.632													5	11					0	0	1	0	0	T	7496092	C	T	7496092	3	4	81	1	0	0	0	0	1	0	0	0	6151	768	27	1	288	1	FXR2	17	7496092	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	903	7496092	73699118	12039	15655											
FXR2	9513	broad.mit.edu	37	17	7496313	7496313	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7496313G>T	ENST00000250113.7	-	13	1851	c.1517C>A	c.(1516-1518)tCt>tAt	p.S506Y		NM_004860.3	NP_004851.2	P51116	FXR2_HUMAN	fragile X mental retardation, autosomal homolog 2	506						cytosolic large ribosomal subunit	protein binding|RNA binding			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)	26				READ - Rectum adenocarcinoma(115;0.17)		TGAGCTAATAGATGAAGAATT	0.597													22	29					3.7963e-18	4.91491e-18	1	1	0	T	7496313	G	T	7496313	3	4	81	1	0	0	0	0	1	0	0	0	6151	942	33	4	424	4	FXR2	17	7496313	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	221	7496313	73698897	12040	15656											
FXR2	9513	broad.mit.edu	37	17	7504815	7504815	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7504815G>A	ENST00000250113.7	-	7	906	c.572C>T	c.(571-573)gCa>gTa	p.A191V		NM_004860.3	NP_004851.2	P51116	FXR2_HUMAN	fragile X mental retardation, autosomal homolog 2	191						cytosolic large ribosomal subunit	protein binding|RNA binding	p.A191E(1)|p.?(1)		NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)	26				READ - Rectum adenocarcinoma(115;0.17)		CAGCAGAGATGCTCGCTTCAC	0.493													64	93					0	0	1	0	0	A	7504815	G	A	7504815	3	1	81	1	0	0	0	0	1	0	0	0	6151	1319	46	2	1393	2	FXR2	17	7504815	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	8502	7504815	73690395	12041	15657											
FXR2	9513	broad.mit.edu	37	17	7507089	7507089	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7507089C>A	ENST00000250113.7	-	5	769	c.435G>T	c.(433-435)gaG>gaT	p.E145D		NM_004860.3	NP_004851.2	P51116	FXR2_HUMAN	fragile X mental retardation, autosomal homolog 2	145						cytosolic large ribosomal subunit	protein binding|RNA binding	p.?(1)		NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)	26				READ - Rectum adenocarcinoma(115;0.17)		CTCTCAGATCCTCGGGCACAG	0.507													21	27					7.87624e-14	9.96214e-14	1	1	0	A	7507089	C	A	7507089	3	1	81	1	0	0	0	0	1	0	0	0	6151	680	24	4	1538	4	FXR2	17	7507089	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2274	7507089	73688121	12042	15658											
SHBG	6462	broad.mit.edu	37	17	7533526	7533526	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7533526G>A	ENST00000380450.4	+	1	67	c.36G>A	c.(34-36)ctG>ctA	p.L12L	SHBG_ENST00000575903.1_Silent_p.L12L|SHBG_ENST00000576478.1_Intron|SHBG_ENST00000441599.2_Silent_p.L12L|SHBG_ENST00000572262.1_Intron|SHBG_ENST00000576728.1_Intron|SHBG_ENST00000340624.5_Intron|SHBG_ENST00000575314.1_Intron|SHBG_ENST00000574539.1_Intron|SHBG_ENST00000570547.1_Intron|SHBG_ENST00000416273.3_Silent_p.L12L|SHBG_ENST00000572182.1_Intron	NM_001040.3	NP_001031.2	P04278	SHBG_HUMAN	sex hormone-binding globulin	12					hormone transport	extracellular region	androgen binding|protein homodimerization activity	p.?(1)		cervix(1)|endometrium(2)|large_intestine(4)|lung(2)|skin(1)	10		all_cancers(10;0.0867)		READ - Rectum adenocarcinoma(115;0.168)	Danazol(DB01406)|Dromostanolone(DB00858)|Estradiol(DB00783)|Estrone(DB00655)|Fluoxymesterone(DB01185)|Hydrocortisone(DB00741)|Mitotane(DB00648)|Norethindrone(DB00717)|Testosterone(DB00624)	CCTCGCGCctgctgctgttgc	0.622													4	11					0	0	1	0	0	A	7533526	G	A	7533526	2	1	81	1	0	0	0	0	0	0	0	1	14324	1306	46	2		2	SHBG	17	7533526	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	26437	7533526	73661684	12043	15659											
SHBG	6462	broad.mit.edu	37	17	7536134	7536134	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7536134T>A	ENST00000380450.4	+	7	948	c.917T>A	c.(916-918)cTt>cAt	p.L306H	SHBG_ENST00000575903.1_Missense_Mutation_p.L288H|SHBG_ENST00000576478.1_Intron|SHBG_ENST00000441599.2_Intron|SHBG_ENST00000572262.1_Missense_Mutation_p.L194H|SHBG_ENST00000576728.1_Intron|SHBG_ENST00000340624.5_Intron|SHBG_ENST00000575314.1_Missense_Mutation_p.L248H|SHBG_ENST00000574539.1_Intron|SHBG_ENST00000570547.1_Intron|SHBG_ENST00000416273.3_Intron|SHBG_ENST00000572182.1_Intron	NM_001040.3	NP_001031.2	P04278	SHBG_HUMAN	sex hormone-binding globulin	306	Laminin G-like 2.				hormone transport	extracellular region	androgen binding|protein homodimerization activity	p.0?(1)|p.?(1)		cervix(1)|endometrium(2)|large_intestine(4)|lung(2)|skin(1)	10		all_cancers(10;0.0867)		READ - Rectum adenocarcinoma(115;0.168)	Danazol(DB01406)|Dromostanolone(DB00858)|Estradiol(DB00783)|Estrone(DB00655)|Fluoxymesterone(DB01185)|Hydrocortisone(DB00741)|Mitotane(DB00648)|Norethindrone(DB00717)|Testosterone(DB00624)	GGACTCCCTCTTCAGCTGAAG	0.597											OREG0024140	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	22	47					0	0	1	0	0	A	7536134	T	A	7536134	3	1	81	1	0	0	0	0	1	0	0	0	14324	1609	56	5	943	5	SHBG	17	7536134	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	2608	7536134	73659076	12044	15660											
SHBG	6462	broad.mit.edu	37	17	7536191	7536191	+	Missense_Mutation	SNP	C	C	T	rs142032286		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7536191C>T	ENST00000380450.4	+	7	1005	c.974C>T	c.(973-975)gCc>gTc	p.A325V	SHBG_ENST00000575903.1_Missense_Mutation_p.A307V|SHBG_ENST00000576478.1_Intron|SHBG_ENST00000441599.2_Intron|SHBG_ENST00000572262.1_Missense_Mutation_p.A213V|SHBG_ENST00000576728.1_Intron|SHBG_ENST00000340624.5_Intron|SHBG_ENST00000575314.1_Missense_Mutation_p.A267V|SHBG_ENST00000574539.1_Intron|SHBG_ENST00000570547.1_Intron|SHBG_ENST00000416273.3_Intron|SHBG_ENST00000572182.1_Intron	NM_001040.3	NP_001031.2	P04278	SHBG_HUMAN	sex hormone-binding globulin	325	Laminin G-like 2.				hormone transport	extracellular region	androgen binding|protein homodimerization activity	p.0?(1)|p.?(1)		cervix(1)|endometrium(2)|large_intestine(4)|lung(2)|skin(1)	10		all_cancers(10;0.0867)		READ - Rectum adenocarcinoma(115;0.168)	Danazol(DB01406)|Dromostanolone(DB00858)|Estradiol(DB00783)|Estrone(DB00655)|Fluoxymesterone(DB01185)|Hydrocortisone(DB00741)|Mitotane(DB00648)|Norethindrone(DB00717)|Testosterone(DB00624)	AAGATGAAGGCCCTTGCCCTG	0.602											OREG0024140	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	15	22					0	0	1	0	0	T	7536191	C	T	7536191	3	4	81	1	0	0	0	0	1	0	0	0	14324	739	26	2	1000	2	SHBG	17	7536191	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	57	7536191	73659019	12045	15661											
ATP1B2	482	broad.mit.edu	37	17	7558002	7558002	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7558002G>T	ENST00000250111.4	+	5	1016	c.609G>T	c.(607-609)aaG>aaT	p.K203N		NM_001678.3	NP_001669.3	P14415	AT1B2_HUMAN	ATPase, Na+/K+ transporting, beta 2 polypeptide	203					ATP biosynthetic process|blood coagulation|leukocyte migration	integral to membrane|plasma membrane	protein binding|sodium:potassium-exchanging ATPase activity	p.0?(2)|p.?(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|pancreas(1)	10		all_cancers(10;0.000178)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;2.55e-06)|READ - Rectum adenocarcinoma(115;0.168)		GTGCTGGGAAGGTGAGTTCGT	0.502													28	75					1.13719e-10	1.39654e-10	1	1	0	T	7558002	G	T	7558002	5	4	81	1	0	0	0	0	0	0	1	0	1132	1014	35	4	627	4	ATP1B2	17	7558002	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	21811	7558002	73637208	12046	15662											
TP53	7157	broad.mit.edu	37	17	7577139	7577139	+	Missense_Mutation	SNP	G	G	A	rs55832599		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7577139G>A	ENST00000420246.2	-	8	931	c.799C>T	c.(799-801)Cgg>Tgg	p.R267W	TP53_ENST00000359597.4_Missense_Mutation_p.R267W|TP53_ENST00000455263.2_Missense_Mutation_p.R267W|TP53_ENST00000445888.2_Missense_Mutation_p.R267W|TP53_ENST00000413465.2_Intron|TP53_ENST00000269305.4_Missense_Mutation_p.R267W	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	267	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> G (in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in sporadic cancers; somatic mutation; dbSNP:rs55832599).		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.R267W(25)|p.0?(8)|p.?(3)|p.G262_F270delGNLLGRNSF(2)|p.G266_E271delGRNSFE(2)|p.G262_S269delGNLLGRNS(2)|p.G266fs*4(1)|p.L265_K305del41(1)|p.E258fs*71(1)|p.R267G(1)|p.R267R(1)|p.L265_R267delLGR(1)|p.G266_N268delGRN(1)|p.G262fs*2(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)		AAGCTGTTCCGTCCCAGTAGA	0.522		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)			6	16					0	0	1	0	0	A	7577139	G	A	7577139	3	1	81	1	0	0	0	0	1	0	0	0	16442	1144	40	1	487	1	TP53	17	7577139	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	19137	7577139	73618071	12047	15663											
TP53	7157	broad.mit.edu	37	17	7578407	7578407	+	Missense_Mutation	SNP	G	G	A	rs138729528		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7578407G>A	ENST00000420246.2	-	5	655	c.523C>T	c.(523-525)Cgc>Tgc	p.R175C	TP53_ENST00000359597.4_Missense_Mutation_p.R175C|TP53_ENST00000455263.2_Missense_Mutation_p.R175C|TP53_ENST00000445888.2_Missense_Mutation_p.R175C|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000413465.2_Missense_Mutation_p.R175C|TP53_ENST00000269305.4_Missense_Mutation_p.R175C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	175	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> C (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; dbSNP:rs28934578).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> 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.R175G(20)|p.R175C(19)|p.0?(8)|p.R175S(5)|p.R43G(3)|p.R174fs*24(3)|p.R82G(3)|p.R175_E180delRCPHHE(3)|p.R43C(2)|p.V173fs*59(2)|p.R174fs*1(2)|p.R82C(2)|p.V157_C176del20(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*5(1)|p.R175fs*6(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R175fs*72(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.S149fs*72(1)|p.R174_E180>K(1)|p.R174fs*3(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)		TGGGGGCAGCGCCTCACAACC	0.657		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)			17	34					0	0	1	0	0	A	7578407	G	A	7578407	3	1	81	1	0	0	0	0	1	0	0	0	16442	1087	38	1	775	1	TP53	17	7578407	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1268	7578407	73616803	12048	15664											
TP53	7157	broad.mit.edu	37	17	7579312	7579312	+	Splice_Site	SNP	C	C	A	rs55863639		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7579312C>A	ENST00000420246.2	-	4	507	c.375G>T	c.(373-375)acG>acT	p.T125T	TP53_ENST00000359597.4_Splice_Site_p.T125T|TP53_ENST00000455263.2_Splice_Site_p.T125T|TP53_ENST00000445888.2_Splice_Site_p.T125T|TP53_ENST00000413465.2_Splice_Site_p.T125T|TP53_ENST00000269305.4_Splice_Site_p.T125T	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	125	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		T -> A (in a sporadic cancer; somatic mutation).|T -> K (in sporadic cancers; somatic mutation).|T -> M (in sporadic cancers; somatic mutation).|T -> P (in a sporadic cancer; somatic mutation).|T -> R (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.T125T(51)|p.0?(8)|p.?(2)|p.V73fs*9(1)|p.G105_T125del21(1)|p.Y126fs*11(1)|p.P13fs*18(1)|p.T125_Y126insX(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)		GGCAACTGACCGTGCAAGTCA	0.537		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)			15	57					5.3912e-06	6.11892e-06	1	1	0	A	7579312	C	A	7579312	5	1	81	1	0	0	0	0	0	0	1	0	16442	666	23	5	927	5	TP53	17	7579312	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	905	7579312	73615898	12049	15665											
DNAH2	146754	broad.mit.edu	37	17	7637893	7637893	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7637893G>A	ENST00000572933.1	+	7	2305	c.845G>A	c.(844-846)cGc>cAc	p.R282H	DNAH2_ENST00000082259.3_Missense_Mutation_p.R282H|DNAH2_ENST00000570791.1_Missense_Mutation_p.R282H|DNAH2_ENST00000389173.2_Missense_Mutation_p.R282H			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	282	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				GAGTTCTGGCGCAACCGATGC	0.527													19	29					0	0	1	0	0	A	7637893	G	A	7637893	3	1	81	1	0	0	0	0	1	0	0	0	4630	1087	38	1	867	1	DNAH2	17	7637893	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	58581	7637893	73557317	12050	15666											
DNAH2	146754	broad.mit.edu	37	17	7643819	7643819	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7643819G>T	ENST00000572933.1	+	10	2918	c.1458G>T	c.(1456-1458)ccG>ccT	p.P486P	DNAH2_ENST00000082259.3_Silent_p.P568P|DNAH2_ENST00000570791.1_Silent_p.P568P|DNAH2_ENST00000389173.2_Silent_p.P486P			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	486	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				GGGACGTGCCGCACGGCGTGC	0.662													35	87					6.97489e-18	9.02363e-18	1	1	0	T	7643819	G	T	7643819	2	4	81	1	0	0	0	0	0	0	0	1	4630	1074	38	5		5	DNAH2	17	7643819	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	5926	7643819	73551391	12051	15667											
DNAH2	146754	broad.mit.edu	37	17	7662914	7662914	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7662914G>T	ENST00000572933.1	+	16	4083	c.2623G>T	c.(2623-2625)Gga>Tga	p.G875*	DNAH2_ENST00000389173.2_Nonsense_Mutation_p.G875*			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	875	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TGATCTGCAAGGAAGTGTGGC	0.458													18	39					3.32936e-07	3.87413e-07	1	1	0	T	7662914	G	T	7662914	4	4	81	1	0	0	0	0	0	1	0	0	4630	1001	35	4	2681	4	DNAH2	17	7662914	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	19095	7662914	73532296	12052	15668											
DNAH2	146754	broad.mit.edu	37	17	7671223	7671223	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7671223C>T	ENST00000572933.1	+	23	5141	c.3681C>T	c.(3679-3681)ctC>ctT	p.L1227L	DNAH2_ENST00000389173.2_Silent_p.L1227L			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	1227	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TGTAGGAGCTCGATGCCCTCC	0.602													11	25					0	0	1	0	0	T	7671223	C	T	7671223	2	4	81	1	0	0	0	0	0	0	0	1	4630	871	31	1		1	DNAH2	17	7671223	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	8309	7671223	73523987	12053	15669											
DNAH2	146754	broad.mit.edu	37	17	7691284	7691284	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7691284A>G	ENST00000572933.1	+	43	8170	c.6710A>G	c.(6709-6711)tAt>tGt	p.Y2237C	DNAH2_ENST00000389173.2_Missense_Mutation_p.Y2237C			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	2237	AAA 2 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TGGAAGCCCTATGTTCAGTCA	0.567													3	41					0	0	1	0	0	G	7691284	A	G	7691284	3	3	81	1	0	0	0	0	1	0	0	0	4630	449	16	3	6876	3	DNAH2	17	7691284	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	20061	7691284	73503926	12054	15670											
DNAH2	146754	broad.mit.edu	37	17	7696336	7696336	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7696336G>T	ENST00000572933.1	+	48	8842	c.7382G>T	c.(7381-7383)aGg>aTg	p.R2461M	DNAH2_ENST00000389173.2_Missense_Mutation_p.R2461M			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	2461	AAA 3 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				ATTGAGAGCAGGGTTGAGAAG	0.498													22	40					7.88262e-20	1.02772e-19	1	1	0	T	7696336	G	T	7696336	3	4	81	1	0	0	0	0	1	0	0	0	4630	1000	35	4	7568	4	DNAH2	17	7696336	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	5052	7696336	73498874	12055	15671											
DNAH2	146754	broad.mit.edu	37	17	7696355	7696355	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7696355G>T	ENST00000572933.1	+	48	8861	c.7401G>T	c.(7399-7401)aaG>aaT	p.K2467N	DNAH2_ENST00000389173.2_Missense_Mutation_p.K2467N			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	2467	AAA 3 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				AGCGAACCAAGGGTGTCTACG	0.517													36	31					6.19805e-25	8.19233e-25	1	1	0	T	7696355	G	T	7696355	3	4	81	1	0	0	0	0	1	0	0	0	4630	991	35	4	7587	4	DNAH2	17	7696355	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	19	7696355	73498855	12056	15672											
KDM6B	23135	broad.mit.edu	37	17	7750057	7750057	+	Splice_Site	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7750057A>G	ENST00000254846.5	+	8	1099	c.710A>G	c.(709-711)cAg>cGg	p.Q237R	KDM6B_ENST00000448097.2_Splice_Site_p.Q237R	NM_001080424.1	NP_001073893.1	O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	237	Pro-rich.				inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						AACTCTGAACAGGTGTGGGTA	0.622													4	67					0	0	1	0	0	G	7750057	A	G	7750057	5	3	81	1	0	0	0	0	0	0	1	0	8181	202	7	3	728	3	KDM6B	17	7750057	Splice_Site	SNP	A	TCGA-DU-6392-01A-11D-1705-08	53702	7750057	73445153	12057	15673											
KDM6B	23135	broad.mit.edu	37	17	7751261	7751261	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7751261G>A	ENST00000254846.5	+	11	2044	c.1655G>A	c.(1654-1656)aGc>aAc	p.S552N	KDM6B_ENST00000448097.2_Missense_Mutation_p.S552N	NM_001080424.1	NP_001073893.1	O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	552	Pro-rich.				inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						CCAACCACcagcagtagcaac	0.637													13	25					0	0	1	0	0	A	7751261	G	A	7751261	3	1	81	1	0	0	0	0	1	0	0	0	8181	971	34	2	1685	2	KDM6B	17	7751261	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1204	7751261	73443949	12058	15674											
KDM6B	23135	broad.mit.edu	37	17	7752261	7752261	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7752261C>T	ENST00000254846.5	+	11	3044	c.2655C>T	c.(2653-2655)ggC>ggT	p.G885G	KDM6B_ENST00000448097.2_Silent_p.G885G	NM_001080424.1	NP_001073893.1	O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	885	Pro-rich.				inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						GCAGGGCGGGCGAAGAGCCAG	0.697													8	9					0	0	1	0	0	T	7752261	C	T	7752261	2	4	81	1	0	0	0	0	0	0	0	1	8181	755	27	1		1	KDM6B	17	7752261	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1000	7752261	73442949	12059	15675											
KDM6B	23135	broad.mit.edu	37	17	7753421	7753421	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7753421T>C	ENST00000254846.5	+	13	3988	c.3599T>C	c.(3598-3600)gTc>gCc	p.V1200A	KDM6B_ENST00000448097.2_Missense_Mutation_p.V1200A	NM_001080424.1	NP_001073893.1	O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	1200					inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						TTCTCACCTGTCCTGCTGCAG	0.612													15	19					0	0	1	0	0	C	7753421	T	C	7753421	3	2	81	1	0	0	0	0	1	0	0	0	8181	1667	58	3	3637	3	KDM6B	17	7753421	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	1160	7753421	73441789	12060	15676	76	2									
KDM6B	23135	broad.mit.edu	37	17	7753424	7753424	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7753424T>C	ENST00000254846.5	+	13	3991	c.3602T>C	c.(3601-3603)cTg>cCg	p.L1201P	KDM6B_ENST00000448097.2_Missense_Mutation_p.L1201P	NM_001080424.1	NP_001073893.1	O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	1201					inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						TCACCTGTCCTGCTGCAGTTC	0.622													12	18					0	0	1	0	0	C	7753424	T	C	7753424	3	2	81	1	0	0	0	0	1	0	0	0	8181	1580	55	3	3640	3	KDM6B	17	7753424	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	3	7753424	73441786	12061	15677	76	2									
CHD3	1107	broad.mit.edu	37	17	7802784	7802784	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7802784C>T	ENST00000380358.4	+	15	2645	c.2644C>T	c.(2644-2646)Cgg>Tgg	p.R882W	CHD3_ENST00000358181.4_Missense_Mutation_p.R823W|CHD3_ENST00000330494.7_Missense_Mutation_p.R823W	NM_001005271.2	NP_001005271.2	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	823	Helicase ATP-binding.				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				CAAGGACAGCCGGGCCATCAT	0.498													63	113					0	0	1	0	0	T	7802784	C	T	7802784	3	4	81	1	0	0	0	0	1	0	0	0	3348	643	23	1	2806	1	CHD3	17	7802784	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	49360	7802784	73392426	12062	15678											
CHD3	1107	broad.mit.edu	37	17	7803351	7803351	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7803351G>T	ENST00000380358.4	+	16	2860	c.2859G>T	c.(2857-2859)aaG>aaT	p.K953N	CHD3_ENST00000358181.4_Splice_Site_p.K894N|CHD3_ENST00000330494.7_Splice_Site_p.K894N	NM_001005271.2	NP_001005271.2	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	894					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				ACCAGTCCAAGGTGAGTGAGG	0.473													13	15					4.3838e-07	5.09097e-07	1	1	0	T	7803351	G	T	7803351	5	4	81	1	0	0	0	0	0	0	1	0	3348	1014	35	4	3025	4	CHD3	17	7803351	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	567	7803351	73391859	12063	15679											
KCNAB3	9196	broad.mit.edu	37	17	7827318	7827318	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7827318G>A	ENST00000303790.2	-	11	894	c.895C>T	c.(895-897)Cga>Tga	p.R299*		NM_004732.3	NP_004723.2	O43448	KCAB3_HUMAN	potassium voltage-gated channel, shaker-related subfamily, beta member 3	299						cytoplasm|integral to membrane	oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity			breast(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)	8		Prostate(122;0.157)				TCTGGGACTCGCCCATCATAC	0.552													11	15					0	0	1	0	0	A	7827318	G	A	7827318	4	1	81	1	0	0	0	0	0	1	0	0	8055	1095	38	1	335	1	KCNAB3	17	7827318	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	23967	7827318	73367892	12064	15680											
CNTROB	116840	broad.mit.edu	37	17	7842843	7842843	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7842843C>T	ENST00000380262.3	+	8	1865	c.940C>T	c.(940-942)Caa>Taa	p.Q314*	CNTROB_ENST00000563694.1_Nonsense_Mutation_p.Q314*|CNTROB_ENST00000565740.1_Nonsense_Mutation_p.Q314*|CNTROB_ENST00000380255.3_Nonsense_Mutation_p.Q314*	NM_001037144.5	NP_001032221.1	Q8N137	CNTRB_HUMAN	centrobin, centrosomal BRCA2 interacting protein	314					centriole replication|centrosome separation|cytokinesis	centriole	protein domain specific binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)	25		Prostate(122;0.173)				GGAGGAAAGGCAAGCTCTGAC	0.577													41	116					0	0	1	0	0	T	7842843	C	T	7842843	4	4	81	1	0	0	0	0	0	1	0	0	3674	711	25	2	970	2	CNTROB	17	7842843	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	15525	7842843	73352367	12065	15681											
CNTROB	116840	broad.mit.edu	37	17	7849174	7849174	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7849174C>T	ENST00000380262.3	+	13	2788	c.1863C>T	c.(1861-1863)gaC>gaT	p.D621D	CNTROB_ENST00000563694.1_Silent_p.D621D|CNTROB_ENST00000565740.1_Silent_p.D621D|CNTROB_ENST00000380255.3_3'UTR	NM_001037144.5	NP_001032221.1	Q8N137	CNTRB_HUMAN	centrobin, centrosomal BRCA2 interacting protein	621	Pro-rich.|Required for centrosome localization.				centriole replication|centrosome separation|cytokinesis	centriole	protein domain specific binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)	25		Prostate(122;0.173)				AAGCAAGGGACGAGCTACCTG	0.607													36	85					0	0	1	0	0	T	7849174	C	T	7849174	2	4	81	1	0	0	0	0	0	0	0	1	3674	535	19	1		1	CNTROB	17	7849174	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	6331	7849174	73346036	12066	15682											
ALOX12B	242	broad.mit.edu	37	17	7983639	7983639	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7983639A>G	ENST00000319144.4	-	6	928	c.668T>C	c.(667-669)gTc>gCc	p.V223A	AC129492.6_ENST00000399413.3_Missense_Mutation_p.D107G	NM_001139.2	NP_001130.1	O75342	LX12B_HUMAN	arachidonate 12-lipoxygenase, 12R type	223	Lipoxygenase.				epidermis development|leukotriene biosynthetic process		arachidonate 12-lipoxygenase activity|iron ion binding|lipoxygenase activity			endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	16						CAGGCCGCGGACTTTGAAAGC	0.592										Multiple Myeloma(8;0.094)	OREG0024153	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	24	59					0	0	1	0	0	G	7983639	A	G	7983639	3	3	81	1	0	0	0	0	1	0	0	0	533	275	10	3	1477	3	ALOX12B	17	7983639	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	134465	7983639	73211571	12067	15683											
PER1	5187	broad.mit.edu	37	17	8051983	8051983	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:8051983G>A	ENST00000317276.4	-	8	1264	c.1027C>T	c.(1027-1029)Cgc>Tgc	p.R343C	PER1_ENST00000581082.1_Missense_Mutation_p.R323C|PER1_ENST00000354903.5_Missense_Mutation_p.R327C	NM_002616.2	NP_002607.2	O15534	PER1_HUMAN	period circadian clock 1	343					circadian rhythm|entrainment of circadian clock|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						GAATGGATGCGCTCTGCAATC	0.622			T	ETV6	"AML, CMML"			Other conserved DNA damage response genes					6	78					0	0	1	0	0	A	8051983	G	A	8051983	3	1	81	1	0	0	0	0	1	0	0	0	11776	1087	38	1	2909	1	PER1	17	8051983	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	68344	8051983	73143227	12068	15684											
PER1	5187	broad.mit.edu	37	17	8053349	8053349	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:8053349C>T	ENST00000317276.4	-	4	706	c.469G>A	c.(469-471)Ggc>Agc	p.G157S	PER1_ENST00000581082.1_Missense_Mutation_p.G157S|PER1_ENST00000354903.5_Missense_Mutation_p.G141S	NM_002616.2	NP_002607.2	O15534	PER1_HUMAN	period circadian clock 1	157					circadian rhythm|entrainment of circadian clock|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						CCAGAGCGGCCCTTGCCCCGG	0.642			T	ETV6	"AML, CMML"			Other conserved DNA damage response genes					52	102					0	0	1	0	0	T	8053349	C	T	8053349	3	4	81	1	0	0	0	0	1	0	0	0	11776	623	22	2	3483	2	PER1	17	8053349	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1366	8053349	73141861	12069	15685											
PFAS	5198	broad.mit.edu	37	17	8158983	8158983	+	Missense_Mutation	SNP	C	C	T	rs139148307		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:8158983C>T	ENST00000314666.6	+	5	681	c.548C>T	c.(547-549)gCg>gTg	p.A183V	PFAS_ENST00000545834.1_Intron	NM_012393.2	NP_036525.1	O15067	PUR4_HUMAN	phosphoribosylformylglycinamidine synthase	183					'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process	cytosol	ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding			central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	GGCCGGCTTGCGCTGGAGAAG	0.592													12	11					0	0	1	0	0	T	8158983	C	T	8158983	3	4	81	1	0	0	0	0	1	0	0	0	11802	768	27	1	562	1	PFAS	17	8158983	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	105634	8158983	73036227	12070	15686											
PFAS	5198	broad.mit.edu	37	17	8159164	8159164	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:8159164C>T	ENST00000314666.6	+	6	749	c.616C>T	c.(616-618)Cgc>Tgc	p.R206C	PFAS_ENST00000545834.1_5'UTR	NM_012393.2	NP_036525.1	O15067	PUR4_HUMAN	phosphoribosylformylglycinamidine synthase	206					'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process	cytosol	ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding			central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	CTACACCAAGCGCTTCCAGGA	0.537													20	54					0	0	1	0	0	T	8159164	C	T	8159164	3	4	81	1	0	0	0	0	1	0	0	0	11802	768	27	1	634	1	PFAS	17	8159164	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	181	8159164	73036046	12071	15687											
PFAS	5198	broad.mit.edu	37	17	8169287	8169287	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:8169287C>T	ENST00000314666.6	+	21	2786	c.2653C>T	c.(2653-2655)Cct>Tct	p.P885S	PFAS_ENST00000545834.1_Missense_Mutation_p.P461S	NM_012393.2	NP_036525.1	O15067	PUR4_HUMAN	phosphoribosylformylglycinamidine synthase	885					'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process	cytosol	ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding			central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	CCTGGACCTTCCTGAGAACTT	0.642													10	24					0	0	1	0	0	T	8169287	C	T	8169287	3	4	81	1	0	0	0	0	1	0	0	0	11802	855	30	2	2731	2	PFAS	17	8169287	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	10123	8169287	73025923	12072	15688											
PFAS	5198	broad.mit.edu	37	17	8170106	8170106	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:8170106G>A	ENST00000314666.6	+	23	2990	c.2857G>A	c.(2857-2859)Gtg>Atg	p.V953M	PFAS_ENST00000545834.1_Missense_Mutation_p.V529M	NM_012393.2	NP_036525.1	O15067	PUR4_HUMAN	phosphoribosylformylglycinamidine synthase	953					'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process	cytosol	ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding			central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	GCCAGGCCTCGTGCTGGAGGT	0.662													20	17					0	0	1	0	0	A	8170106	G	A	8170106	3	1	81	1	0	0	0	0	1	0	0	0	11802	1145	40	1	2943	1	PFAS	17	8170106	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	819	8170106	73025104	12073	15689											
ARHGEF15	22899	broad.mit.edu	37	17	8216239	8216239	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:8216239G>T	ENST00000361926.3	+	3	711		c.e3-1		ARHGEF15_ENST00000421050.1_Splice_Site	NM_173728.3	NP_776089.2	O94989	ARHGF_HUMAN	Rho guanine nucleotide exchange factor (GEF) 15						negative regulation of synapse maturation|regulation of Rho protein signal transduction	dendrite|intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						GTCTCCCACAGATGCTGGCCT	0.632													8	190					1.06961e-07	1.25755e-07	1	1	0	T	8216239	G	T	8216239	5	4	81	1	0	0	0	0	0	0	1	0	895	956	33	4	607	4	ARHGEF15	17	8216239	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	46133	8216239	72978971	12074	15690											
ARHGEF15	22899	broad.mit.edu	37	17	8218780	8218780	+	Missense_Mutation	SNP	C	C	T	rs139047802		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:8218780C>T	ENST00000361926.3	+	7	1419	c.1309C>T	c.(1309-1311)Cgg>Tgg	p.R437W	ARHGEF15_ENST00000421050.1_Missense_Mutation_p.R437W	NM_173728.3	NP_776089.2	O94989	ARHGF_HUMAN	Rho guanine nucleotide exchange factor (GEF) 15	437	DH.				negative regulation of synapse maturation|regulation of Rho protein signal transduction	dendrite|intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						GCGCTCCCTGCGGCTGCTGAC	0.607													8	126					0	0	1	0	0	T	8218780	C	T	8218780	3	4	81	1	0	0	0	0	1	0	0	0	895	759	27	1	1331	1	ARHGEF15	17	8218780	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2541	8218780	72976430	12075	15691											
NDEL1	81565	broad.mit.edu	37	17	8363388	8363388	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:8363388C>A	ENST00000334527.7	+	8	1051	c.854C>A	c.(853-855)tCc>tAc	p.S285Y	NDEL1_ENST00000380025.4_Intron|NDEL1_ENST00000585098.1_Intron|NDEL1_ENST00000299734.7_Missense_Mutation_p.S285Y|NDEL1_ENST00000402554.3_Missense_Mutation_p.S285Y	NM_030808.4	NP_110435.1	Q9GZM8	NDEL1_HUMAN	nudE neurodevelopment protein 1-like 1	285	Interaction with CENPF.|Interaction with NEFL (By similarity).|Required for localization to the centrosome and interaction with dynein, dynactin, tubulin gamma, PCM1 and PCNT1.				chromosome segregation|mitotic prometaphase	condensed chromosome kinetochore|cytosol|microtubule|spindle				large_intestine(6)|lung(4)|skin(3)	13						TCACGAAAATCCTATATTTCA	0.413													10	121					4.68919e-08	5.54405e-08	1	1	0	A	8363388	C	A	8363388	3	1	81	1	0	0	0	0	1	0	0	0	10291	855	30	5	880	5	NDEL1	17	8363388	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	144608	8363388	72831822	12076	15692											
MYH10	4628	broad.mit.edu	37	17	8393675	8393675	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:8393675G>A	ENST00000360416.3	-	35	5005	c.4867C>T	c.(4867-4869)Cgg>Tgg	p.R1623W	MYH10_ENST00000269243.4_Missense_Mutation_p.R1592W|MYH10_ENST00000379980.4_Missense_Mutation_p.R1608W|MYH10_ENST00000396239.1_Missense_Mutation_p.R1613W	NM_001256012.1	NP_001242941.1	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	1592					actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						ATCAGCAGCCGCTTCTTCTCT	0.557													6	83					0	0	1	0	0	A	8393675	G	A	8393675	3	1	81	1	0	0	0	0	1	0	0	0	10078	1086	38	1	1192	1	MYH10	17	8393675	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	30287	8393675	72801535	12077	15693											
MYH10	4628	broad.mit.edu	37	17	8415869	8415869	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:8415869A>G	ENST00000360416.3	-	24	2990	c.2852T>C	c.(2851-2853)tTa>tCa	p.L951S	MYH10_ENST00000269243.4_Missense_Mutation_p.L920S|MYH10_ENST00000379980.4_Missense_Mutation_p.L936S|MYH10_ENST00000396239.1_Missense_Mutation_p.L941S	NM_001256012.1	NP_001242941.1	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	920					actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						AATCTCTTCTAATTCCTGCTT	0.393													26	39					0	0	1	0	0	G	8415869	A	G	8415869	3	3	81	1	0	0	0	0	1	0	0	0	10078	372	13	3	3251	3	MYH10	17	8415869	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	22194	8415869	72779341	12078	15694											
MYH10	4628	broad.mit.edu	37	17	8508150	8508150	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:8508150G>T	ENST00000360416.3	-	3	634	c.496C>A	c.(496-498)Ctt>Att	p.L166I	MYH10_ENST00000269243.4_Missense_Mutation_p.L166I|MYH10_ENST00000379980.4_Missense_Mutation_p.L166I|MYH10_ENST00000396239.1_Missense_Mutation_p.L166I	NM_001256012.1	NP_001242941.1	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	166	Myosin head-like.				actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						TTACCTTGAAGCATGCATCTG	0.303													20	71					2.21704e-12	2.77053e-12	1	1	0	T	8508150	G	T	8508150	3	4	81	1	0	0	0	0	1	0	0	0	10078	971	34	4	5590	4	MYH10	17	8508150	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	92281	8508150	72687060	12079	15695											
MFSD6L	162387	broad.mit.edu	37	17	8702189	8702189	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:8702189G>T	ENST00000329805.4	-	1	478	c.250C>A	c.(250-252)Ctg>Atg	p.L84M		NM_152599.3	NP_689812.3	Q8IWD5	MFS6L_HUMAN	major facilitator superfamily domain containing 6-like	84						integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|skin(4)	17						GAGCCGAGCAGGGAGCCGATC	0.602													21	45					2.27525e-19	2.96239e-19	1	1	0	T	8702189	G	T	8702189	3	4	81	1	0	0	0	0	1	0	0	0	9586	991	35	4	1514	4	MFSD6L	17	8702189	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	194039	8702189	72493021	12080	15696											
MFSD6L	162387	broad.mit.edu	37	17	8702265	8702265	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:8702265G>A	ENST00000329805.4	-	1	402	c.174C>T	c.(172-174)atC>atT	p.I58I		NM_152599.3	NP_689812.3	Q8IWD5	MFS6L_HUMAN	major facilitator superfamily domain containing 6-like	58						integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|skin(4)	17						AGAAGGCAGCGATTAGGTGCT	0.652													32	37					0	0	1	0	0	A	8702265	G	A	8702265	2	1	81	1	0	0	0	0	0	0	0	1	9586	1048	37	1		1	MFSD6L	17	8702265	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	76	8702265	72492945	12081	15697											
PIK3R6	146850	broad.mit.edu	37	17	8736358	8736358	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:8736358C>T	ENST00000311434.9	-	9	889	c.650G>A	c.(649-651)aGc>aAc	p.S217N	PIK3R6_ENST00000434064.2_5'UTR	NM_001010855.2	NP_001010855.1	Q5UE93	PI3R6_HUMAN	phosphoinositide-3-kinase, regulatory subunit 6	217					platelet activation	cytosol											GCGGCGAGGGCTGGCCTGTTG	0.701													4	8					0	0	1	0	0	T	8736358	C	T	8736358	3	4	81	1	0	0	0	0	1	0	0	0	11971	797	28	2	1661	2	PIK3R6	17	8736358	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	34093	8736358	72458852	12082	15698											
PIK3R5	23533	broad.mit.edu	37	17	8792129	8792129	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:8792129C>T	ENST00000447110.1	-	10	1099	c.975G>A	c.(973-975)gaG>gaA	p.E325E	PIK3R5_ENST00000584803.1_Silent_p.E325E|PIK3R5_ENST00000581552.1_Silent_p.E325E	NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1	NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1	Q8WYR1	PI3R5_HUMAN	phosphoinositide-3-kinase, regulatory subunit 5	325				DILQEILLKEQELLQPGILGDDEEEEEEEEEVEEDLETDGH CAERDSLLSTSSLASHDSTLSLASSQASG -> GNIEGDPG PRRPDSAGLASLQTSCRKSCSRNRSYSSQGSWEMMKRRERR RRRWRRTWKLTGTVPREIPCS (in Ref. 6; AAW63121).	platelet activation	cytosol|membrane|nucleus				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						cctcctcctcctcttcctcct	0.582													3	31					0	0	1	0	0	T	8792129	C	T	8792129	2	4	81	1	0	0	0	0	0	0	0	1	11970	680	24	2		2	PIK3R5	17	8792129	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	55771	8792129	72403081	12083	15699											
WDR16	146845	broad.mit.edu	37	17	9532104	9532104	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:9532104G>A	ENST00000352665.5	+	9	1210	c.1141G>A	c.(1141-1143)Gac>Aac	p.D381N	WDR16_ENST00000396219.3_Missense_Mutation_p.D313N|WDR16_ENST00000299764.5_Missense_Mutation_p.D391N	NM_145054.4	NP_659491.4	Q8N1V2	WDR16_HUMAN	WD repeat domain 16	381						cytoplasm|intracellular membrane-bounded organelle	protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31						CCACGGCATCGACTTCATGAG	0.527													15	35					0	0	1	0	0	A	9532104	G	A	9532104	3	1	81	1	0	0	0	0	1	0	0	0	17336	1058	37	1	1175	1	WDR16	17	9532104	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	739975	9532104	71663106	12084	15700											
WDR16	146845	broad.mit.edu	37	17	9536300	9536300	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:9536300G>A	ENST00000352665.5	+	10	1339	c.1270G>A	c.(1270-1272)Gcc>Acc	p.A424T	WDR16_ENST00000576714.1_3'UTR|WDR16_ENST00000396219.3_Missense_Mutation_p.A356T|WDR16_ENST00000299764.5_Missense_Mutation_p.A434T	NM_145054.4	NP_659491.4	Q8N1V2	WDR16_HUMAN	WD repeat domain 16	424						cytoplasm|intracellular membrane-bounded organelle	protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31						CACCGCCATCGCCACCACCAG	0.512													5	50					0	0	1	0	0	A	9536300	G	A	9536300	3	1	81	1	0	0	0	0	1	0	0	0	17336	1087	38	1	1308	1	WDR16	17	9536300	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	4196	9536300	71658910	12085	15701											
USP43	124739	broad.mit.edu	37	17	9632095	9632095	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:9632095G>T	ENST00000285199.7	+	15	3256	c.3160G>T	c.(3160-3162)Ggc>Tgc	p.G1054C	USP43_ENST00000570475.1_Missense_Mutation_p.G1049C|USP43_ENST00000570827.2_3'UTR	NM_001267576.1|NM_153210.4	NP_001254505.1|NP_694942.3	Q70EL4	UBP43_HUMAN	ubiquitin specific peptidase 43						ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	26						CCTGGCCAGGGGCCTGGGCAG	0.711													3	11					0.004672	0.00489345	1	1	0	T	9632095	G	T	9632095	3	4	81	1	0	0	0	0	1	0	0	0	17134	1232	43	5	3218	5	USP43	17	9632095	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	95795	9632095	71563115	12086	15702											
USP43	124739	broad.mit.edu	37	17	9632155	9632155	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:9632155C>T	ENST00000285199.7	+	15	3316	c.3220C>T	c.(3220-3222)Cgt>Tgt	p.R1074C	USP43_ENST00000570475.1_Missense_Mutation_p.R1069C|USP43_ENST00000570827.2_3'UTR	NM_001267576.1|NM_153210.4	NP_001254505.1|NP_694942.3	Q70EL4	UBP43_HUMAN	ubiquitin specific peptidase 43						ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	26						CCGCCTCCCTCGTAAAGCCAG	0.632													22	24					0	0	1	0	0	T	9632155	C	T	9632155	3	4	81	1	0	0	0	0	1	0	0	0	17134	884	31	1	3278	1	USP43	17	9632155	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	60	9632155	71563055	12087	15703											
DHRS7C	201140	broad.mit.edu	37	17	9674949	9674949	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:9674949G>A	ENST00000330255.5	-	6	807	c.795C>T	c.(793-795)acC>acT	p.T265T	DHRS7C_ENST00000571134.1_Silent_p.T264T	NM_001105571.2|NM_001220493.1	NP_001099041.1|NP_001207422.1	A6NNS2	DRS7C_HUMAN	dehydrogenase/reductase (SDR family) member 7C							extracellular region	binding|oxidoreductase activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)	15						TCCTCCGCACGGTGCGCATCA	0.607													4	3					0	0	1	0	0	A	9674949	G	A	9674949	2	1	81	1	0	0	0	0	0	0	0	1	4525	1103	39	1		1	DHRS7C	17	9674949	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	42794	9674949	71520261	12088	15704											
GLP2R	9340	broad.mit.edu	37	17	9729552	9729552	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:9729552C>T	ENST00000262441.5	+	1	685	c.172C>T	c.(172-174)Ctg>Ttg	p.L58L	GLP2R_ENST00000574745.1_Intron	NM_004246.1	NP_004237.1	O95838	GLP2R_HUMAN	glucagon-like peptide 2 receptor	58					G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of cell proliferation	integral to membrane|plasma membrane				endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	44					Glucagon recombinant(DB00040)	TCTGGTCCTGCTGGTTTCCAT	0.488													3	29					0	0	1	0	0	T	9729552	C	T	9729552	2	4	81	1	0	0	0	0	0	0	0	1	6495	796	28	2		2	GLP2R	17	9729552	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	54603	9729552	71465658	12089	15705											
RCVRN	5957	broad.mit.edu	37	17	9801418	9801418	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:9801418G>A	ENST00000226193.5	-	3	1037	c.597C>T	c.(595-597)aaC>aaT	p.N199N	RCVRN_ENST00000570909.3_5'UTR	NM_002903.2	NP_002894.1	P35243	RECO_HUMAN	recoverin	199					visual perception		calcium ion binding|calcium sensitive guanylate cyclase activator activity			endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|upper_aerodigestive_tract(1)	12						GGCATCAGGCGTTCTTCATCT	0.507													63	89					0	0	1	0	0	A	9801418	G	A	9801418	2	1	81	1	0	0	0	0	0	0	0	1	13238	1136	40	1		1	RCVRN	17	9801418	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	71866	9801418	71393792	12090	15706											
MYH13	8735	broad.mit.edu	37	17	10210259	10210259	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:10210259C>T	ENST00000418404.3	-	35	5455	c.5292G>A	c.(5290-5292)acG>acA	p.T1764T	MYH13_ENST00000252172.4_Silent_p.T1764T|RP11-401O9.4_ENST00000609088.1_RNA			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1764					muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						AGCTCACATCCGTGATGGCCT	0.517													27	37					0	0	1	0	0	T	10210259	C	T	10210259	2	4	81	1	0	0	0	0	0	0	0	1	10080	639	23	1		1	MYH13	17	10210259	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	408841	10210259	70984951	12091	15707											
MYH13	8735	broad.mit.edu	37	17	10253954	10253954	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:10253954T>C	ENST00000418404.3	-	11	1226	c.1063A>G	c.(1063-1065)Acg>Gcg	p.T355A	MYH13_ENST00000252172.4_Missense_Mutation_p.T355A			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	355	Myosin head-like.				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						ACGGCTCCCGTCAGTTTGTAG	0.512													33	48					0	0	1	0	0	C	10253954	T	C	10253954	3	2	81	1	0	0	0	0	1	0	0	0	10080	1667	58	3	4873	3	MYH13	17	10253954	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	43695	10253954	70941256	12092	15708											
MYH8	4626	broad.mit.edu	37	17	10304604	10304604	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:10304604C>G	ENST00000403437.2	-	24	3190	c.3096G>C	c.(3094-3096)caG>caC	p.Q1032H	RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1032					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						CATCCACTTGCTGTTCTAGCT	0.378									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				7	108					0	0	1	0	0	G	10304604	C	G	10304604	3	3	81	1	0	0	0	0	1	0	0	0	10089	796	28	4	2785	4	MYH8	17	10304604	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	50650	10304604	70890606	12093	15709											
MYH8	4626	broad.mit.edu	37	17	10318841	10318841	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:10318841G>A	ENST00000403437.2	-	7	690	c.596C>T	c.(595-597)gCa>gTa	p.A199V	RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	199	Myosin head-like.				muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						TGCAATTGTTGCAAAGTATTG	0.458									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				36	48					0	0	1	0	0	A	10318841	G	A	10318841	3	1	81	1	0	0	0	0	1	0	0	0	10089	1319	46	2	5353	2	MYH8	17	10318841	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	14237	10318841	70876369	12094	15710											
MYH4	4622	broad.mit.edu	37	17	10355428	10355428	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:10355428C>T	ENST00000255381.2	-	27	3678	c.3568G>A	c.(3568-3570)Gaa>Aaa	p.E1190K	RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1190					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						GCCGTGGCTTCGTGCTGCAGG	0.582													38	39					0	0	1	0	0	T	10355428	C	T	10355428	3	4	81	1	0	0	0	0	1	0	0	0	10085	893	31	1	2307	1	MYH4	17	10355428	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	36587	10355428	70839782	12095	15711											
MYH1	4619	broad.mit.edu	37	17	10397683	10397683	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:10397683T>C	ENST00000226207.5	-	39	5749	c.5655A>G	c.(5653-5655)caA>caG	p.Q1885Q	RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1885						muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						CTTCTTCAGCTTGTCTCTTGT	0.428													10	97					0	0	1	0	0	C	10397683	T	C	10397683	2	2	81	1	0	0	0	0	0	0	0	1	10077	1606	56	3		3	MYH1	17	10397683	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	42255	10397683	70797527	12096	15712											
MYH1	4619	broad.mit.edu	37	17	10398332	10398332	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:10398332C>T	ENST00000226207.5	-	37	5476	c.5382G>A	c.(5380-5382)gtG>gtA	p.V1794V	RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1794						muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						GCAGGTCCTTCACCGTCTGTT	0.557													13	109					0	0	1	0	0	T	10398332	C	T	10398332	2	4	81	1	0	0	0	0	0	0	0	1	10077	813	29	2		2	MYH1	17	10398332	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	649	10398332	70796878	12097	15713											
MYH1	4619	broad.mit.edu	37	17	10399784	10399784	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:10399784A>C	ENST00000226207.5	-	34	4833	c.4739T>G	c.(4738-4740)aTt>aGt	p.I1580S	RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1580						muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	p.I1580T(1)		NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						TTTTTCAGCAATTTTCCTATC	0.448													17	131					0	0	1	0	0	C	10399784	A	C	10399784	3	2	81	1	0	0	0	0	1	0	0	0	10077	101	4	4	1108	4	MYH1	17	10399784	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	1452	10399784	70795426	12098	15714											
MYH1	4619	broad.mit.edu	37	17	10402092	10402092	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:10402092A>G	ENST00000226207.5	-	30	4126	c.4032T>C	c.(4030-4032)tgT>tgC	p.C1344C	RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1344						muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						GCAGCAGGTCACAGTCATGGC	0.512													10	55					0	0	1	0	0	G	10402092	A	G	10402092	2	3	81	1	0	0	0	0	0	0	0	1	10077	157	6	3		3	MYH1	17	10402092	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	2308	10402092	70793118	12099	15715											
MYH1	4619	broad.mit.edu	37	17	10404994	10404994	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:10404994A>G	ENST00000226207.5	-	26	3359	c.3265T>C	c.(3265-3267)Ttt>Ctt	p.F1089L	RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1089						muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						CTCATTTCAAACTCTTTCCTA	0.358													16	35					0	0	1	0	0	G	10404994	A	G	10404994	3	3	81	1	0	0	0	0	1	0	0	0	10077	43	2	3	2614	3	MYH1	17	10404994	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	2902	10404994	70790216	12100	15716											
MYH1	4619	broad.mit.edu	37	17	10417403	10417403	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:10417403C>T	ENST00000226207.5	-	7	666	c.572G>A	c.(571-573)cGt>cAt	p.R191H	RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	191	Myosin head-like.					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						CTGGATGACACGCTTGGTGTT	0.433													13	63					0	0	1	0	0	T	10417403	C	T	10417403	3	4	81	1	0	0	0	0	1	0	0	0	10077	536	19	1	5383	1	MYH1	17	10417403	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	12409	10417403	70777807	12101	15717											
MYH2	4620	broad.mit.edu	37	17	10428206	10428206	+	Silent	SNP	A	A	G	rs1042185		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:10428206A>G	ENST00000245503.5	-	34	5223	c.4839T>C	c.(4837-4839)agT>agC	p.S1613S	RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA|MYH2_ENST00000397183.2_Silent_p.S1613S|MYH2_ENST00000532183.2_Intron	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1613					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						CATCATTCCTACTCCTGATCT	0.483													5	125					0	0	1	0	0	G	10428206	A	G	10428206	2	3	81	1	0	0	0	0	0	0	0	1	10083	388	14	3		3	MYH2	17	10428206	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	10803	10428206	70767004	12102	15718											
MYH2	4620	broad.mit.edu	37	17	10429105	10429105	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:10429105G>A	ENST00000245503.5	-	31	4660	c.4276C>T	c.(4276-4278)Cgg>Tgg	p.R1426W	RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.R1426W|MYH2_ENST00000532183.2_Intron	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1426					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						TTCTGCAGCCGCTGCTTCGTC	0.512													29	32					0	0	1	0	0	A	10429105	G	A	10429105	3	1	81	1	0	0	0	0	1	0	0	0	10083	1086	38	1	1589	1	MYH2	17	10429105	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	899	10429105	70766105	12103	15719											
MYH2	4620	broad.mit.edu	37	17	10432210	10432210	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:10432210G>A	ENST00000245503.5	-	27	3925	c.3541C>T	c.(3541-3543)Cgc>Tgc	p.R1181C	RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.R1181C|MYH2_ENST00000532183.2_Intron	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1181					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						AGGTCCCTGCGCATTTTCTGG	0.592													41	76					0	0	1	0	0	A	10432210	G	A	10432210	3	1	81	1	0	0	0	0	1	0	0	0	10083	1087	38	1	2340	1	MYH2	17	10432210	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	3105	10432210	70763000	12104	15720											
MYH2	4620	broad.mit.edu	37	17	10451166	10451166	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:10451166G>A	ENST00000245503.5	-	3	456	c.72C>T	c.(70-72)cgC>cgT	p.R24R	CTC-297N7.11_ENST00000587182.2_RNA|MYH2_ENST00000397183.2_Silent_p.R24R|MYH2_ENST00000532183.2_Silent_p.R24R	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	24	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						GGGCCTCAATGCGCTCCCTTT	0.512													6	54					0	0	1	0	0	A	10451166	G	A	10451166	2	1	81	1	0	0	0	0	0	0	0	1	10083	1306	46	2		2	MYH2	17	10451166	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	18956	10451166	70744044	12105	15721											
MYH3	4621	broad.mit.edu	37	17	10535318	10535318	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:10535318G>T	ENST00000583535.1	-	35	5059	c.4972C>A	c.(4972-4974)Ctg>Atg	p.L1658M	MYH3_ENST00000226209.7_Missense_Mutation_p.L1658M	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	1658					muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						GCATCATCCAGGTGGAGCTGC	0.567													4	37					0.00024832	0.000269806	1	1	0	T	10535318	G	T	10535318	3	4	81	1	0	0	0	0	1	0	0	0	10084	991	35	4	878	4	MYH3	17	10535318	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	84152	10535318	70659892	12106	15722											
MYH3	4621	broad.mit.edu	37	17	10543493	10543493	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:10543493G>T	ENST00000583535.1	-	22	2589	c.2502C>A	c.(2500-2502)ttC>ttA	p.F834L	MYH3_ENST00000226209.7_Missense_Mutation_p.F834L	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	834					muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						TGATCTTGAAGAAGAGTTTCA	0.458													48	60					2.77807e-22	3.64825e-22	1	1	0	T	10543493	G	T	10543493	3	4	81	1	0	0	0	0	1	0	0	0	10084	933	33	4	3400	4	MYH3	17	10543493	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	8175	10543493	70651717	12107	15723											
MYH3	4621	broad.mit.edu	37	17	10545871	10545871	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:10545871G>A	ENST00000583535.1	-	16	1838	c.1751C>T	c.(1750-1752)gCg>gTg	p.A584V	MYH3_ENST00000226209.7_Missense_Mutation_p.A584V	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	584	Myosin head-like.				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						CACGGTGCCCGCATAGTGGAT	0.537													34	71					0	0	1	0	0	A	10545871	G	A	10545871	3	1	81	1	0	0	0	0	1	0	0	0	10084	1087	38	1	4175	1	MYH3	17	10545871	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2378	10545871	70649339	12108	15724											
MYH3	4621	broad.mit.edu	37	17	10545980	10545980	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:10545980A>G	ENST00000583535.1	-	16	1729	c.1642T>C	c.(1642-1644)Tcc>Ccc	p.S548P	MYH3_ENST00000226209.7_Missense_Mutation_p.S548P	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	548	Myosin head-like.				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						TTCTTGAAGGAGGTGTCTGTT	0.507													5	97					0	0	1	0	0	G	10545980	A	G	10545980	3	3	81	1	0	0	0	0	1	0	0	0	10084	304	11	3	4284	3	MYH3	17	10545980	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	109	10545980	70649230	12109	15725											
SCO1	6341	broad.mit.edu	37	17	10590075	10590075	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:10590075G>T	ENST00000255390.5	-	5	800	c.740C>A	c.(739-741)cCt>cAt	p.P247H	SCO1_ENST00000577427.1_Missense_Mutation_p.P216H	NM_004589.2	NP_004580.1	O75880	SCO1_HUMAN	SCO1 cytochrome c oxidase assembly protein	247					cellular copper ion homeostasis|copper ion transport|generation of precursor metabolites and energy|respiratory chain complex IV assembly	mitochondrial inner membrane	copper ion binding			cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|urinary_tract(1)	10						CTTGGGGCCAGGGCTGTAATA	0.443													11	108					5.50884e-06	6.24461e-06	1	1	0	T	10590075	G	T	10590075	3	4	81	1	0	0	0	0	1	0	0	0	13985	1000	35	4	173	4	SCO1	17	10590075	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	44095	10590075	70605135	12110	15726											
DNAH9	1770	broad.mit.edu	37	17	11550472	11550472	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:11550472G>A	ENST00000262442.4	+	12	2122	c.2054G>A	c.(2053-2055)cGt>cAt	p.R685H	DNAH9_ENST00000454412.2_Missense_Mutation_p.R685H	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9		Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.R685H(1)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CTTCTAAAACGTGACCCAGAG	0.458													5	108					0	0	1	0	0	A	11550472	G	A	11550472	3	1	81	1	0	0	0	0	1	0	0	0	4635	1145	40	1	2100	1	DNAH9	17	11550472	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	960397	11550472	69644738	12111	15727											
DNAH9	1770	broad.mit.edu	37	17	11556116	11556116	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:11556116C>A	ENST00000262442.4	+	14	2460	c.2392C>A	c.(2392-2394)Cat>Aat	p.H798N	DNAH9_ENST00000454412.2_Missense_Mutation_p.H798N	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9		Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CAGTAGTATTCATGATCTTGA	0.363													40	77					6.1244e-12	7.62814e-12	1	1	0	A	11556116	C	A	11556116	3	1	81	1	0	0	0	0	1	0	0	0	4635	826	29	5	2446	5	DNAH9	17	11556116	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	5644	11556116	69639094	12112	15728											
DNAH9	1770	broad.mit.edu	37	17	11593175	11593175	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:11593175C>A	ENST00000262442.4	+	20	4104	c.4036C>A	c.(4036-4038)Ctg>Atg	p.L1346M	DNAH9_ENST00000454412.2_Missense_Mutation_p.L1346M	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9		Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TATCCGAAACCTGGACAAGGA	0.572													4	6					0.150653	0.152522	1	1	0	A	11593175	C	A	11593175	3	1	81	1	0	0	0	0	1	0	0	0	4635	680	24	4	4114	4	DNAH9	17	11593175	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	37059	11593175	69602035	12113	15729											
DNAH9	1770	broad.mit.edu	37	17	11603079	11603079	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:11603079A>G	ENST00000262442.4	+	23	4972	c.4904A>G	c.(4903-4905)aAc>aGc	p.N1635S	DNAH9_ENST00000454412.2_Missense_Mutation_p.N1635S	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9		Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CTCTTTGACAACATGGCCAAG	0.458													20	31					0	0	1	0	0	G	11603079	A	G	11603079	3	3	81	1	0	0	0	0	1	0	0	0	4635	43	2	3	4994	3	DNAH9	17	11603079	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	9904	11603079	69592131	12114	15730											
DNAH9	1770	broad.mit.edu	37	17	11790177	11790177	+	Silent	SNP	C	C	T	rs151325104	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:11790177C>T	ENST00000262442.4	+	57	11075	c.11007C>T	c.(11005-11007)aaC>aaT	p.N3669N	DNAH9_ENST00000454412.2_Silent_p.N3669N|DNAH9_ENST00000396001.2_3'UTR|DNAH9_ENST00000608377.1_5'UTR	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9						cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TGAAAATCAACGAGGCCCGAG	0.522													22	37					0	0	1	0	0	T	11790177	C	T	11790177	2	4	81	1	0	0	0	0	0	0	0	1	4635	535	19	1		1	DNAH9	17	11790177	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	187098	11790177	69405033	12115	15731											
DNAH9	1770	broad.mit.edu	37	17	11872633	11872633	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:11872633A>G	ENST00000262442.4	+	69	13318	c.13250A>G	c.(13249-13251)gAg>gGg	p.E4417G	RP11-1096G20.5_ENST00000580270.1_RNA|DNAH9_ENST00000454412.2_Missense_Mutation_p.E4341G|DNAH9_ENST00000396001.2_3'UTR|DNAH9_ENST00000608377.1_Missense_Mutation_p.E729G	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9						cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		ATCATTACAGAGGCAAAGCTG	0.522													6	82					0	0	1	0	0	G	11872633	A	G	11872633	3	3	81	1	0	0	0	0	1	0	0	0	4635	304	11	3	13524	3	DNAH9	17	11872633	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	82456	11872633	69322577	12116	15732											
ZNF18	7566	broad.mit.edu	37	17	11881326	11881326	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:11881326G>A	ENST00000322748.3	-	9	2202	c.1598C>T	c.(1597-1599)tCg>tTg	p.S533L	ZNF18_ENST00000454073.3_Missense_Mutation_p.S532L|ZNF18_ENST00000580306.2_Missense_Mutation_p.S533L	NM_144680.2	NP_653281.2	P17022	ZNF18_HUMAN	zinc finger protein 18	533					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)	14				Colorectal(4;3.33e-05)|COAD - Colon adenocarcinoma(4;0.000494)|READ - Rectum adenocarcinoma(10;0.233)		GTCAAGGCTCGAGCTCCAGCT	0.433													7	116					0	0	1	0	0	A	11881326	G	A	11881326	3	1	81	1	0	0	0	0	1	0	0	0	17805	1059	37	1	55	1	ZNF18	17	11881326	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	8693	11881326	69313884	12117	15733											
ZNF18	7566	broad.mit.edu	37	17	11887482	11887482	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:11887482C>A	ENST00000322748.3	-	7	1303	c.699G>T	c.(697-699)aaG>aaT	p.K233N	ZNF18_ENST00000454073.3_Missense_Mutation_p.K233N|ZNF18_ENST00000580306.2_Missense_Mutation_p.K233N	NM_144680.2	NP_653281.2	P17022	ZNF18_HUMAN	zinc finger protein 18	233	KRAB.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)	14				Colorectal(4;3.33e-05)|COAD - Colon adenocarcinoma(4;0.000494)|READ - Rectum adenocarcinoma(10;0.233)		AGTATTGCTCCTTTTGAGTGG	0.448													10	15					2.17888e-05	2.43576e-05	1	1	0	A	11887482	C	A	11887482	3	1	81	1	0	0	0	0	1	0	0	0	17805	680	24	4	962	4	ZNF18	17	11887482	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	6156	11887482	69307728	12118	15734											
MYOCD	93649	broad.mit.edu	37	17	12655755	12655755	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:12655755C>T	ENST00000425538.1	+	10	1350	c.1150C>T	c.(1150-1152)Cga>Tga	p.R384*	MYOCD_ENST00000395988.1_3'UTR|MYOCD_ENST00000343344.4_Nonsense_Mutation_p.R384*|AC005358.1_ENST00000609971.1_Nonsense_Mutation_p.R288*	NM_001146312.1|NM_153604.2	NP_001139784.1|NP_705832.1	Q8IZQ8	MYCD_HUMAN	myocardin	384	SAP.				cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		ACAACAGCTTCGAATTCGGGG	0.453													21	38					0	0	1	0	0	T	12655755	C	T	12655755	4	4	81	1	0	0	0	0	0	1	0	0	10135	876	31	1	1188	1	MYOCD	17	12655755	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	768273	12655755	68539455	12119	15735											
ELAC2	60528	broad.mit.edu	37	17	12898155	12898155	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:12898155G>A	ENST00000338034.4	-	21	2194	c.1955C>T	c.(1954-1956)gCg>gTg	p.A652V	ELAC2_ENST00000426905.3_Missense_Mutation_p.A612V|ELAC2_ENST00000395962.2_Missense_Mutation_p.A633V	NM_018127.6|NM_173717.1	NP_060597.4|NP_776065.1	Q9BQ52	RNZ2_HUMAN	elaC ribonuclease Z 2	652					tRNA processing	nucleus	endonuclease activity|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|skin(1)	23						GTGCACCAGCGCACAGCCAAA	0.622													13	58					0	0	1	0	0	A	12898155	G	A	12898155	3	1	81	1	0	0	0	0	1	0	0	0	5075	1087	38	1	541	1	ELAC2	17	12898155	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	242400	12898155	68297055	12120	15736											
TEKT3	64518	broad.mit.edu	37	17	15215722	15215722	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:15215722C>T	ENST00000395930.1	-	7	1141	c.955G>A	c.(955-957)Gct>Act	p.A319T	TEKT3_ENST00000338696.2_Missense_Mutation_p.A319T	NM_031898.2	NP_114104.1	Q9BXF9	TEKT3_HUMAN	tektin 3	319					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				endometrium(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	23				UCEC - Uterine corpus endometrioid carcinoma (92;0.0877)		CTTAGCTTAGCGGAAGCTGCC	0.458													25	57					0	0	1	0	0	T	15215722	C	T	15215722	3	4	81	1	0	0	0	0	1	0	0	0	15813	768	27	1	529	1	TEKT3	17	15215722	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2317567	15215722	65979488	12121	15737											
CDRT4	284040	broad.mit.edu	37	17	15341382	15341382	+	Missense_Mutation	SNP	C	C	T	rs140524456	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:15341382C>T	ENST00000312177.6	-	4	444	c.164G>A	c.(163-165)cGt>cAt	p.R55H	TVP23C-CDRT4_ENST00000522212.2_3'UTR|TVP23C_ENST00000519970.1_3'UTR|CDRT4_ENST00000519354.1_5'UTR	NM_001204477.1	NP_001191406.1	Q8N9R6	CDRT4_HUMAN	CMT1A duplicated region transcript 4	55										endometrium(3)|skin(1)	4				UCEC - Uterine corpus endometrioid carcinoma (92;0.0874)		CTCGAGGGCACGCATGCATTC	0.488													6	74					0	0	1	0	0	T	15341382	C	T	15341382	3	4	81	1	0	0	0	0	1	0	0	0	3198	536	19	1	295	1	CDRT4	17	15341382	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	125660	15341382	65853828	12122	15738											
CDRT1	374286	broad.mit.edu	37	17	15510968	15510968	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:15510968C>T	ENST00000455584.2	-	12	2125	c.2082G>A	c.(2080-2082)caG>caA	p.Q694Q	CDRT1_ENST00000395906.3_Silent_p.Q384Q																							TTTCCTCGTTCTGGTATGCAG	0.473													14	14					0	0	1	0	0	T	15510968	C	T	15510968	2	4	81	1	0	0	0	0	0	0	0	1	3196	912	32	2		2	CDRT1	17	15510968	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	169586	15510968	65684242	12123	15739											
CDRT1	374286	broad.mit.edu	37	17	15518967	15518967	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:15518967G>T	ENST00000455584.2	-	8	1635	c.1592C>A	c.(1591-1593)tCt>tAt	p.S531Y	CDRT1_ENST00000395906.3_Missense_Mutation_p.S221Y																							ACCAGGGTTAGATGCTGCCCC	0.517													14	24					0.000308642	0.000334385	1	1	0	T	15518967	G	T	15518967	3	4	81	1	0	0	0	0	1	0	0	0	3196	942	33	4	1640	4	CDRT1	17	15518967	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	7999	15518967	65676243	12124	15740											
CDRT1	374286	broad.mit.edu	37	17	15522425	15522425	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:15522425C>T	ENST00000395906.3	-	1	401	c.402G>A	c.(400-402)gcG>gcA	p.A134A	RP11-385D13.1_ENST00000455584.2_Intron	NM_006382.3	NP_006373.2	O95170	CDRT1_HUMAN	CMT1A duplicated region transcript 1	134										endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|stomach(1)|upper_aerodigestive_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(2;1.36e-05)|BRCA - Breast invasive adenocarcinoma(8;0.0541)		GAGTATAATTCGCCTTGGTCC	0.433													60	97					0	0	1	0	0	T	15522425	C	T	15522425	2	4	81	1	0	0	0	0	0	0	0	1	3196	871	31	1		1	CDRT1	17	15522425	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3458	15522425	65672785	12125	15741											
TRIM16	10626	broad.mit.edu	37	17	15532148	15532148	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:15532148G>A	ENST00000578237.1	-	11	2331	c.1476C>T	c.(1474-1476)ttC>ttT	p.F492F	TRIM16_ENST00000577886.1_Silent_p.F276F|TRIM16_ENST00000579219.1_3'UTR|TRIM16_ENST00000416464.2_Silent_p.F362F|RP11-385D13.1_ENST00000455584.2_Intron|TRIM16_ENST00000336708.7_Silent_p.F492F					tripartite motif containing 16											breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)	19				UCEC - Uterine corpus endometrioid carcinoma (92;0.0839)|Epithelial(1;8.4e-29)|all cancers(1;3.06e-28)|Colorectal(1;1.57e-19)|OV - Ovarian serous cystadenocarcinoma(1;6.1e-17)|COAD - Colon adenocarcinoma(1;3.38e-12)|READ - Rectum adenocarcinoma(2;1.46e-05)|BRCA - Breast invasive adenocarcinoma(8;0.0559)		CGAGCCTCCGGAAAGGGCCAG	0.532													19	32					0	0	1	0	0	A	15532148	G	A	15532148	2	1	81	1	0	0	0	0	0	0	0	1	16552	1165	41	2		2	TRIM16	17	15532148	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	9723	15532148	65663062	12126	15742											
TRIM16	10626	broad.mit.edu	37	17	15532344	15532344	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:15532344T>C	ENST00000455584.2	-	6	1323	c.1280A>G	c.(1279-1281)cAc>cGc	p.H427R	TRIM16_ENST00000577886.1_Missense_Mutation_p.H211R|TRIM16_ENST00000579219.1_Missense_Mutation_p.T124A|TRIM16_ENST00000416464.2_Missense_Mutation_p.H297R|TRIM16_ENST00000578237.1_Missense_Mutation_p.H427R|TRIM16_ENST00000336708.7_Missense_Mutation_p.H427R																							ATAGTACCTGTGCAGGTACAG	0.597													12	13					0	0	1	0	0	C	15532344	T	C	15532344	3	2	81	1	0	0	0	0	1	0	0	0	16552	1696	59	3	418	3	TRIM16	17	15532344	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	196	15532344	65662866	12127	15743											
TRIM16	10626	broad.mit.edu	37	17	15554452	15554452	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:15554452T>C	ENST00000455584.2	-	1	515	c.472A>G	c.(472-474)Agt>Ggt	p.S158G	TRIM16_ENST00000416464.2_Intron|TRIM16_ENST00000581224.1_Intron|TRIM16_ENST00000578237.1_Missense_Mutation_p.S158G|TRIM16_ENST00000336708.7_Missense_Mutation_p.S158G																							GTGTGGCCACTGTGCTCCTGG	0.617													5	45					0	0	1	0	0	C	15554452	T	C	15554452	3	2	81	1	0	0	0	0	1	0	0	0	16552	1580	55	3	1246	3	TRIM16	17	15554452	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	22108	15554452	65640758	12128	15744											
TBC1D26	353149	broad.mit.edu	37	17	15641317	15641317	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:15641317C>T	ENST00000437605.2	+	6	455	c.205C>T	c.(205-207)Cgc>Tgc	p.R69C	TBC1D26_ENST00000579428.1_Missense_Mutation_p.R69C|ZNF286A_ENST00000413242.2_3'UTR|AC005324.6_ENST00000434017.1_RNA	NM_178571.4	NP_848666	Q86UD7	TBC26_HUMAN	TBC1 domain family, member 26	69						intracellular	Rab GTPase activator activity			endometrium(1)|large_intestine(1)|lung(4)|skin(1)	7				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(1115;0.0222)|BRCA - Breast invasive adenocarcinoma(8;0.078)		ACAGCAAAGACGCAAGGAAAG	0.547													26	40					0	0	1	0	0	T	15641317	C	T	15641317	3	4	81	1	0	0	0	0	1	0	0	0	15673	536	19	1	219	1	TBC1D26	17	15641317	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	86865	15641317	65553893	12129	15745											
TBC1D26	353149	broad.mit.edu	37	17	15643436	15643436	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:15643436C>T	ENST00000437605.2	+	9	770	c.520C>T	c.(520-522)Ctc>Ttc	p.L174F	AC005324.6_ENST00000433873.1_RNA|TBC1D26_ENST00000579428.1_Missense_Mutation_p.L174F|ZNF286A_ENST00000413242.2_3'UTR|AC005324.6_ENST00000434017.1_RNA	NM_178571.4	NP_848666	Q86UD7	TBC26_HUMAN	TBC1 domain family, member 26	174	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			endometrium(1)|large_intestine(1)|lung(4)|skin(1)	7				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(1115;0.0222)|BRCA - Breast invasive adenocarcinoma(8;0.078)		ATGTGACATCCTCGTGGCCTA	0.468													44	54					0	0	1	0	0	T	15643436	C	T	15643436	3	4	81	1	0	0	0	0	1	0	0	0	15673	681	24	2	546	2	TBC1D26	17	15643436	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2119	15643436	65551774	12130	15746											
NCOR1	9611	broad.mit.edu	37	17	15935767	15935767	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:15935767G>A	ENST00000268712.3	-	46	7423	c.7166C>T	c.(7165-7167)aCt>aTt	p.T2389I	NCOR1_ENST00000395857.3_Missense_Mutation_p.T973I|NCOR1_ENST00000395851.1_Missense_Mutation_p.T2286I	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	2389	Interaction with C1D (By similarity).				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		CATCCGCATAGTCAGAGGGTT	0.453													24	46					0	0	1	0	0	A	15935767	G	A	15935767	3	1	81	1	0	0	0	0	1	0	0	0	10282	1029	36	2	160	2	NCOR1	17	15935767	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	292331	15935767	65259443	12131	15747											
NCOR1	9611	broad.mit.edu	37	17	15942850	15942850	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:15942850A>G	ENST00000268712.3	-	44	7109	c.6852T>C	c.(6850-6852)gtT>gtC	p.V2284V	NCOR1_ENST00000395857.3_Silent_p.V868V|NCOR1_ENST00000395851.1_Silent_p.V2181V	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	2284	Interaction with C1D (By similarity).				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		GGGACATGACAACTCCATGAT	0.502													7	47					0	0	1	0	0	G	15942850	A	G	15942850	2	3	81	1	0	0	0	0	0	0	0	1	10282	117	5	3		3	NCOR1	17	15942850	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	7083	15942850	65252360	12132	15748											
NCOR1	9611	broad.mit.edu	37	17	15942969	15942969	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:15942969C>A	ENST00000268712.3	-	44	6991		c.e44-1		NCOR1_ENST00000395857.3_Splice_Site|NCOR1_ENST00000395851.1_Splice_Site	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1						cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		CTAACTGAGCCTGAAAGAGAA	0.448													4	26					2.56e-06	2.92664e-06	1	1	0	A	15942969	C	A	15942969	5	1	81	1	0	0	0	0	0	0	1	0	10282	695	24	4	601	4	NCOR1	17	15942969	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	119	15942969	65252241	12133	15749											
NCOR1	9611	broad.mit.edu	37	17	15973653	15973653	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:15973653G>T	ENST00000268712.3	-	31	4596	c.4339C>A	c.(4339-4341)Cgg>Agg	p.R1447R	NCOR1_ENST00000395857.3_Silent_p.R31R|NCOR1_ENST00000395851.1_Silent_p.R1463R	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	1447	Interaction with ETO.				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		GACGTGTGCCGGGAACGCACG	0.532													46	69					8.01111e-26	1.06104e-25	1	1	0	T	15973653	G	T	15973653	2	4	81	1	0	0	0	0	0	0	0	1	10282	1115	39	5		5	NCOR1	17	15973653	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	30684	15973653	65221557	12134	15750											
NCOR1	9611	broad.mit.edu	37	17	16021243	16021243	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:16021243G>A	ENST00000268712.3	-	18	2271	c.2014C>T	c.(2014-2016)Cga>Tga	p.R672*	NCOR1_ENST00000583226.1_5'UTR|NCOR1_ENST00000395848.1_Nonsense_Mutation_p.R563*|NCOR1_ENST00000395851.1_Nonsense_Mutation_p.R672*	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	672	SANT 2.				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		AGATTGTGTCGCCTTTTATAG	0.373													8	66					0	0	1	0	0	A	16021243	G	A	16021243	4	1	81	1	0	0	0	0	0	1	0	0	10282	1095	38	1	5424	1	NCOR1	17	16021243	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	47590	16021243	65173967	12135	15751											
NCOR1	9611	broad.mit.edu	37	17	16042399	16042399	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:16042399C>A	ENST00000268712.3	-	12	1532	c.1275G>T	c.(1273-1275)gaG>gaT	p.E425D	NCOR1_ENST00000395848.1_Missense_Mutation_p.E316D|NCOR1_ENST00000395851.1_Missense_Mutation_p.E425D	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	425					cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		TCATAGGGTCCTCCATAAGCC	0.353													6	29					0.217242	0.218703	1	1	0	A	16042399	C	A	16042399	3	1	81	1	0	0	0	0	1	0	0	0	10282	680	24	4	6187	4	NCOR1	17	16042399	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	21156	16042399	65152811	12136	15752											
NCOR1	9611	broad.mit.edu	37	17	16049780	16049780	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:16049780C>A	ENST00000268712.3	-	10	1249	c.992G>T	c.(991-993)aGg>aTg	p.R331M	NCOR1_ENST00000395848.1_Missense_Mutation_p.R222M|NCOR1_ENST00000395851.1_Missense_Mutation_p.R331M	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	331	Interaction with ZBTB33 and HEXIM1.				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		TTTAGCTTTCCTCCGAGGATT	0.383													32	27					5.6714e-07	6.57996e-07	1	1	0	A	16049780	C	A	16049780	3	1	81	1	0	0	0	0	1	0	0	0	10282	681	24	4	6478	4	NCOR1	17	16049780	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	7381	16049780	65145430	12137	15753											
NCOR1	9611	broad.mit.edu	37	17	16068429	16068429	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:16068429G>A	ENST00000268712.3	-	5	739	c.482C>T	c.(481-483)tCg>tTg	p.S161L	NCOR1_ENST00000395848.1_Missense_Mutation_p.S52L|NCOR1_ENST00000395851.1_Missense_Mutation_p.S161L	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	161	Interaction with ZBTB33 and HEXIM1.				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		TGGTTGCCCCGAAATTGGAGA	0.388													21	121					0	0	1	0	0	A	16068429	G	A	16068429	3	1	81	1	0	0	0	0	1	0	0	0	10282	1059	37	1	7008	1	NCOR1	17	16068429	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	18649	16068429	65126781	12138	15754											
TRPV2	51393	broad.mit.edu	37	17	16335329	16335329	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:16335329C>T	ENST00000338560.7	+	12	2103	c.1704C>T	c.(1702-1704)ggC>ggT	p.G568G	TRPV2_ENST00000583241.1_3'UTR|TRPV2_ENST00000577397.1_Silent_p.G138G	NM_016113.4	NP_057197.2	Q9Y5S1	TRPV2_HUMAN	transient receptor potential cation channel, subfamily V, member 2	568					sensory perception	integral to plasma membrane|melanosome	calcium channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|stomach(3)	28				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		CTCCTACAGGCCCCAATGCCA	0.647													17	25					0	0	1	0	0	T	16335329	C	T	16335329	2	4	81	1	0	0	0	0	0	0	0	1	16657	726	26	2		2	TRPV2	17	16335329	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	266900	16335329	64859881	12139	15755											
ZNF287	57336	broad.mit.edu	37	17	16455236	16455236	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:16455236G>T	ENST00000395824.1	-	6	2837	c.2220C>A	c.(2218-2220)acC>acA	p.T740T	ZNF287_ENST00000395825.3_Silent_p.T740T			Q9HBT7	ZN287_HUMAN	zinc finger protein 287	733					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|prostate(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (92;0.083)		TCTGGGTGAAGGTTTTACCAC	0.388													7	165					8.12818e-05	8.94031e-05	1	1	0	T	16455236	G	T	16455236	2	4	81	1	0	0	0	0	0	0	0	1	17882	987	35	4		4	ZNF287	17	16455236	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	119907	16455236	64739974	12140	15756											
ZNF287	57336	broad.mit.edu	37	17	16456237	16456237	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:16456237G>A	ENST00000395824.1	-	6	1836	c.1219C>T	c.(1219-1221)Cat>Tat	p.H407Y	ZNF287_ENST00000395825.3_Missense_Mutation_p.H407Y			Q9HBT7	ZN287_HUMAN	zinc finger protein 287	400					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|prostate(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (92;0.083)		GATGAGATATGCCTAAACTCT	0.433													19	148					0	0	1	0	0	A	16456237	G	A	16456237	3	1	81	1	0	0	0	0	1	0	0	0	17882	1319	46	2	1070	2	ZNF287	17	16456237	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1001	16456237	64738973	12141	15757											
ZNF624	57547	broad.mit.edu	37	17	16526599	16526599	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:16526599C>T	ENST00000311331.7	-	6	1692	c.1601G>A	c.(1600-1602)gGg>gAg	p.G534E		NM_020787.3	NP_065838.2	Q9P2J8	ZN624_HUMAN	zinc finger protein 624	534					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	26				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		GAATGCTTTCCCACATTCATT	0.383													6	105					0	0	1	0	0	T	16526599	C	T	16526599	3	4	81	1	0	0	0	0	1	0	0	0	18105	623	22	2	1000	2	ZNF624	17	16526599	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	70362	16526599	64668611	12142	15758											
MPRIP	23164	broad.mit.edu	37	17	17030083	17030083	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:17030083G>A	ENST00000395811.5	+	4	424	c.335G>A	c.(334-336)cGc>cAc	p.R112H	MPRIP_ENST00000395804.3_Missense_Mutation_p.R112H|MPRIP_ENST00000444976.1_Missense_Mutation_p.R112H|MPRIP_ENST00000341712.4_Missense_Mutation_p.R112H	NM_015134.3|NM_201274.3	NP_055949.2|NP_958431.2	Q6WCQ1	MPRIP_HUMAN	myosin phosphatase Rho interacting protein	112	Interaction with F-actin (By similarity).|PH 1.					cytoplasm|cytoskeleton	actin binding	p.R112H(1)		biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						GGGGAGGGCCGCACGGGCCAG	0.597													8	57					0	0	1	0	0	A	17030083	G	A	17030083	3	1	81	1	0	0	0	0	1	0	0	0	9792	1087	38	1	349	1	MPRIP	17	17030083	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	503484	17030083	64165127	12143	15759											
MPRIP	23164	broad.mit.edu	37	17	17079821	17079821	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:17079821C>A	ENST00000395811.5	+	20	2880	c.2791C>A	c.(2791-2793)Ctg>Atg	p.L931M	MPRIP_ENST00000341712.4_Missense_Mutation_p.L931M|MPRIP_ENST00000395804.3_Missense_Mutation_p.L931M|MPRIP_ENST00000444976.1_Missense_Mutation_p.L893M|RP11-45M22.3_ENST00000584203.1_RNA	NM_015134.3|NM_201274.3	NP_055949.2|NP_958431.2	Q6WCQ1	MPRIP_HUMAN	myosin phosphatase Rho interacting protein	931						cytoplasm|cytoskeleton	actin binding			biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						GCAGACGGCACTGCGGGTAAG	0.562													6	57					0.0215528	0.0221217	1	1	0	A	17079821	C	A	17079821	3	1	81	1	0	0	0	0	1	0	0	0	9792	564	20	4	2869	4	MPRIP	17	17079821	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	49738	17079821	64115389	12144	15760											
FLCN	201163	broad.mit.edu	37	17	17119724	17119724	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:17119724C>T	ENST00000285071.4	-	11	1724	c.1270G>A	c.(1270-1272)Gtg>Atg	p.V424M	RP11-45M22.4_ENST00000427497.3_3'UTR	NM_144997.5	NP_659434.2	Q8NFG4	FLCN_HUMAN	folliculin	424					regulation of protein phosphorylation	cytoplasm|nucleus|plasma membrane	protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|stomach(1)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						GGGATCTGCACGTGCGGGCTG	0.672									Familial Non-VHL Clear Cell Renal Cancer;Birt-Hogg-Dub syndrome				8	6					0	0	1	0	0	T	17119724	C	T	17119724	3	4	81	1	0	0	0	0	1	0	0	0	5954	536	19	1	485	1	FLCN	17	17119724	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	39903	17119724	64075486	12145	15761											
FLCN	201163	broad.mit.edu	37	17	17120461	17120461	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:17120461C>T	ENST00000285071.4	-	10	1552	c.1098G>A	c.(1096-1098)tgG>tgA	p.W366*	RP11-45M22.4_ENST00000427497.3_Missense_Mutation_p.A74T	NM_144997.5	NP_659434.2	Q8NFG4	FLCN_HUMAN	folliculin	366					regulation of protein phosphorylation	cytoplasm|nucleus|plasma membrane	protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|stomach(1)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						TGAGAACGTGCCAGGCCAGCA	0.512									Familial Non-VHL Clear Cell Renal Cancer;Birt-Hogg-Dub syndrome				3	32					0	0	1	0	0	T	17120461	C	T	17120461	4	4	81	1	0	0	0	0	0	1	0	0	5954	740	26	2	661	2	FLCN	17	17120461	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	737	17120461	64074749	12146	15762											
FLCN	201163	broad.mit.edu	37	17	17124701	17124701	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:17124701A>G	ENST00000389169.5	-	8	1475	c.1021T>C	c.(1021-1023)Tcg>Ccg	p.S341P	FLCN_ENST00000285071.4_Intron|RP11-45M22.4_ENST00000427497.3_Intron	NM_144606.5	NP_653207.1	Q8NFG4	FLCN_HUMAN	folliculin	0					regulation of protein phosphorylation	cytoplasm|nucleus|plasma membrane	protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|stomach(1)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						aatcacaCCGAGATCGGAGGG	0.547									Familial Non-VHL Clear Cell Renal Cancer;Birt-Hogg-Dub syndrome				3	10					0	0	1	0	0	G	17124701	A	G	17124701	3	3	81	1	0	0	0	0	1	0	0	0	5954	304	11	3	904	3	FLCN	17	17124701	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	4240	17124701	64070509	12147	15763											
FLCN	201163	broad.mit.edu	37	17	17129551	17129551	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:17129551G>T	ENST00000285071.4	-	5	789	c.335C>A	c.(334-336)cCc>cAc	p.P112H	RP11-45M22.4_ENST00000427497.3_Intron|FLCN_ENST00000389169.5_Missense_Mutation_p.P112H	NM_144997.5	NP_659434.2	Q8NFG4	FLCN_HUMAN	folliculin	112					regulation of protein phosphorylation	cytoplasm|nucleus|plasma membrane	protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|stomach(1)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						GGGGTGGCTGGGGTGCTGGTG	0.597									Familial Non-VHL Clear Cell Renal Cancer;Birt-Hogg-Dub syndrome				8	63					1.26484e-09	1.5311e-09	1	1	0	T	17129551	G	T	17129551	3	4	81	1	0	0	0	0	1	0	0	0	5954	1232	43	5	1602	5	FLCN	17	17129551	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	4850	17129551	64065659	12148	15764											
NT5M	56953	broad.mit.edu	37	17	17250164	17250164	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:17250164G>A	ENST00000389022.4	+	5	806	c.590G>A	c.(589-591)tGc>tAc	p.C197Y	NT5M_ENST00000582909.1_3'UTR	NM_020201.3	NP_064586.1	Q9NPB1	NT5M_HUMAN	5',3'-nucleotidase, mitochondrial	197					DNA replication|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	mitochondrial matrix	5'-nucleotidase activity|metal ion binding|nucleotide binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4						TTCACCGCCTGCCACAACCAG	0.682													4	23					0	0	1	0	0	A	17250164	G	A	17250164	3	1	81	1	0	0	0	0	1	0	0	0	10742	1319	46	2	608	2	NT5M	17	17250164	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	120613	17250164	63945046	12149	15765											
MED9	55090	broad.mit.edu	37	17	17394698	17394698	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:17394698C>T	ENST00000268711.3	+	2	386	c.330C>T	c.(328-330)agC>agT	p.S110S		NM_018019.2	NP_060489.1	Q9NWA0	MED9_HUMAN	mediator complex subunit 9	110					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		protein binding			cervix(1)|endometrium(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						TCCACCTGAGCCCCGAACAGC	0.577													33	53					0	0	1	0	0	T	17394698	C	T	17394698	2	4	81	1	0	0	0	0	0	0	0	1	9504	738	26	2		2	MED9	17	17394698	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	144534	17394698	63800512	12150	15766											
RASD1	51655	broad.mit.edu	37	17	17398697	17398697	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:17398697C>T	ENST00000225688.3	-	2	799	c.588G>A	c.(586-588)aaG>aaA	p.K196K	RASD1_ENST00000579152.1_3'UTR	NM_001199989.1|NM_016084.4	NP_001186918.1|NP_057168.1	Q9Y272	RASD1_HUMAN	RAS, dexamethasone-induced 1	196					G-protein coupled receptor protein signaling pathway|small GTPase mediated signal transduction	nucleus|perinuclear region of cytoplasm|plasma membrane	GTP binding|GTPase activity			endometrium(1)|lung(2)|upper_aerodigestive_tract(1)	4						CGCTGGGCAGCTTGGCCATGG	0.642													3	4					0	0	1	0	0	T	17398697	C	T	17398697	2	4	81	1	0	0	0	0	0	0	0	1	13118	796	28	2		2	RASD1	17	17398697	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3999	17398697	63796513	12151	15767											
RASD1	51655	broad.mit.edu	37	17	17399332	17399332	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:17399332G>T	ENST00000225688.3	-	1	375	c.164C>A	c.(163-165)cCt>cAt	p.P55H	RASD1_ENST00000579152.1_Missense_Mutation_p.P55H	NM_001199989.1|NM_016084.4	NP_001186918.1|NP_057168.1	Q9Y272	RASD1_HUMAN	RAS, dexamethasone-induced 1	55					G-protein coupled receptor protein signaling pathway|small GTPase mediated signal transduction	nucleus|perinuclear region of cytoplasm|plasma membrane	GTP binding|GTPase activity			endometrium(1)|lung(2)|upper_aerodigestive_tract(1)	4						CTCGATGGTAGGCGTGTAGGC	0.627													24	32					7.4402e-23	9.78278e-23	1	1	0	T	17399332	G	T	17399332	3	4	81	1	0	0	0	0	1	0	0	0	13118	1000	35	4	689	4	RASD1	17	17399332	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	635	17399332	63795878	12152	15768											
RAI1	10743	broad.mit.edu	37	17	17696880	17696880	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:17696880T>C	ENST00000353383.1	+	3	1087	c.618T>C	c.(616-618)ggT>ggC	p.G206G	RAI1_ENST00000261641.6_Silent_p.G206G	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	206	Gln-rich.					cytoplasm|nucleus	zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		TCCCCCAGGGTACCCACTTTC	0.632													25	47					0	0	1	0	0	C	17696880	T	C	17696880	2	2	81	1	0	0	0	0	0	0	0	1	13059	1625	57	3		3	RAI1	17	17696880	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	297548	17696880	63498330	12153	15769											
RAI1	10743	broad.mit.edu	37	17	17696960	17696960	+	Missense_Mutation	SNP	C	C	G	rs34551516		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:17696960C>G	ENST00000353383.1	+	3	1167	c.698C>G	c.(697-699)gCc>gGc	p.A233G	RAI1_ENST00000261641.6_Missense_Mutation_p.A233G	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	233	Gln-rich.					cytoplasm|nucleus	zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		GGGCAGGGGGCCCACTCCTAT	0.652													5	58					0	0	1	0	0	G	17696960	C	G	17696960	3	3	81	1	0	0	0	0	1	0	0	0	13059	739	26	5	700	5	RAI1	17	17696960	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	80	17696960	63498250	12154	15770											
RAI1	10743	broad.mit.edu	37	17	17698006	17698006	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:17698006G>A	ENST00000353383.1	+	3	2213	c.1744G>A	c.(1744-1746)Gac>Aac	p.D582N	RAI1_ENST00000261641.6_Missense_Mutation_p.D582N	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	582						cytoplasm|nucleus	zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		TCTGCCGCTCGACAGCTTCTC	0.637													6	61					0	0	1	0	0	A	17698006	G	A	17698006	3	1	81	1	0	0	0	0	1	0	0	0	13059	1058	37	1	1746	1	RAI1	17	17698006	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1046	17698006	63497204	12155	15771											
RAI1	10743	broad.mit.edu	37	17	17700973	17700973	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:17700973G>A	ENST00000353383.1	+	3	5180	c.4711G>A	c.(4711-4713)Gca>Aca	p.A1571T	RAI1_ENST00000261641.6_Missense_Mutation_p.A1571T	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	1571						cytoplasm|nucleus	zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		CCTGGATCCCGCAGAGCCTGA	0.642													33	49					0	0	1	0	0	A	17700973	G	A	17700973	3	1	81	1	0	0	0	0	1	0	0	0	13059	1087	38	1	4713	1	RAI1	17	17700973	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2967	17700973	63494237	12156	15772											
SREBF1	6720	broad.mit.edu	37	17	17722350	17722350	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:17722350G>T	ENST00000355815.4	-	6	1304	c.1135C>A	c.(1135-1137)Ctg>Atg	p.L379M	SREBF1_ENST00000338854.5_Missense_Mutation_p.L349M|SREBF1_ENST00000261646.5_Missense_Mutation_p.L349M|SREBF1_ENST00000395757.1_Missense_Mutation_p.L95M|SREBF1_ENST00000435530.2_Missense_Mutation_p.L349M	NM_001005291.2	NP_001005291.1	P36956	SRBP1_HUMAN	sterol regulatory element binding transcription factor 1	349	Interaction with LMNA (By similarity).|Leucine-zipper.				cellular response to starvation|cholesterol metabolic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter	endoplasmic reticulum|endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleus	protein binding|sequence-specific DNA binding transcription factor activity|sterol response element binding			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	14						CCCACCACCAGATCCTTGAGC	0.587													9	74					3.09899e-07	3.60815e-07	1	1	0	T	17722350	G	T	17722350	3	4	81	1	0	0	0	0	1	0	0	0	15197	933	33	4	2458	4	SREBF1	17	17722350	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	21377	17722350	63472860	12157	15773											
TOM1L2	146691	broad.mit.edu	37	17	17751069	17751069	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:17751069G>T	ENST00000581396.1	-	14	1350	c.1254C>A	c.(1252-1254)gcC>gcA	p.A418A	TOM1L2_ENST00000379504.3_Silent_p.A468A|TOM1L2_ENST00000542206.1_Silent_p.A349A|TOM1L2_ENST00000535933.1_Silent_p.A444A|TOM1L2_ENST00000540946.1_Silent_p.A350A|TOM1L2_ENST00000318094.10_Silent_p.A423A|TOM1L2_ENST00000395739.4_Silent_p.A423A|TOM1L2_ENST00000478943.1_Silent_p.A201A	NM_001033551.2	NP_001028723.1	Q6ZVM7	TM1L2_HUMAN	target of myb1-like 2 (chicken)	468					intracellular protein transport	intracellular				endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(2)	10	all_neural(463;0.228)					CAGCAGCTTTGGCTCTTTCTT	0.582													7	66					0.000157383	0.000171784	1	1	0	T	17751069	G	T	17751069	2	4	81	1	0	0	0	0	0	0	0	1	16413	1335	47	5		5	TOM1L2	17	17751069	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	28719	17751069	63444141	12158	15774											
TOM1L2	146691	broad.mit.edu	37	17	17770235	17770235	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:17770235G>A	ENST00000581396.1	-	8	861	c.765C>T	c.(763-765)ttC>ttT	p.F255F	TOM1L2_ENST00000379504.3_Silent_p.F305F|TOM1L2_ENST00000542206.1_Silent_p.F157F|TOM1L2_ENST00000535933.1_Silent_p.F252F|TOM1L2_ENST00000540946.1_Silent_p.F207F|TOM1L2_ENST00000318094.10_Silent_p.F260F|TOM1L2_ENST00000395739.4_Silent_p.F260F|TOM1L2_ENST00000478943.1_Silent_p.F38F|TOM1L2_ENST00000577517.1_5'UTR	NM_001033551.2	NP_001028723.1	Q6ZVM7	TM1L2_HUMAN	target of myb1-like 2 (chicken)	305	GAT.				intracellular protein transport	intracellular				endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(2)	10	all_neural(463;0.228)					TGTATCGTTCGAACCTAACAG	0.517													11	52					0	0	1	0	0	A	17770235	G	A	17770235	2	1	81	1	0	0	0	0	0	0	0	1	16413	1049	37	1		1	TOM1L2	17	17770235	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	19166	17770235	63424975	12159	15775											
LRRC48	83450	broad.mit.edu	37	17	17896109	17896109	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:17896109C>T	ENST00000313838.8	+	7	854	c.475C>T	c.(475-477)Cgg>Tgg	p.R159W	LRRC48_ENST00000399187.1_Missense_Mutation_p.R159W|LRRC48_ENST00000399182.1_Missense_Mutation_p.R159W|LRRC48_ENST00000411504.2_Missense_Mutation_p.R159W|LRRC48_ENST00000584166.1_Missense_Mutation_p.R159W	NM_001130090.1	NP_001123562.1	Q9H069	LRC48_HUMAN	leucine rich repeat containing 48	159			R -> Q (in dbSNP:rs8072048).			cytoplasm				breast(1)|large_intestine(2)|lung(2)|pancreas(1)|urinary_tract(1)	7	all_neural(463;0.228)					CAAGTGCCTGCGGACGCTCAG	0.542													6	18					0	0	1	0	0	T	17896109	C	T	17896109	3	4	81	1	0	0	0	0	1	0	0	0	9050	759	27	1	489	1	LRRC48	17	17896109	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	125874	17896109	63299101	12160	15776											
MYO15A	51168	broad.mit.edu	37	17	18022853	18022853	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:18022853G>A	ENST00000205890.5	+	2	1077	c.739G>A	c.(739-741)Gac>Aac	p.D247N		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	247	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					CGACTACTACGACCGGCAGTC	0.647													8	29					0	0	1	0	0	A	18022853	G	A	18022853	3	1	81	1	0	0	0	0	1	0	0	0	10111	1058	37	1	741	1	MYO15A	17	18022853	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	126744	18022853	63172357	12161	15777											
MYO15A	51168	broad.mit.edu	37	17	18023071	18023071	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:18023071G>A	ENST00000205890.5	+	2	1295	c.957G>A	c.(955-957)ccG>ccA	p.P319P		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	319	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					ATGCGCCCCCGTCGGGGTACT	0.607													5	61					0	0	1	0	0	A	18023071	G	A	18023071	2	1	81	1	0	0	0	0	0	0	0	1	10111	1132	40	1		1	MYO15A	17	18023071	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	218	18023071	63172139	12162	15778											
MYO15A	51168	broad.mit.edu	37	17	18023596	18023596	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:18023596G>T	ENST00000205890.5	+	2	1820	c.1482G>T	c.(1480-1482)gaG>gaT	p.E494D		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	494	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					AGAAGCTGGAGGTGCCCCTGC	0.632													9	24					1.58986e-06	1.82794e-06	1	1	0	T	18023596	G	T	18023596	3	4	81	1	0	0	0	0	1	0	0	0	10111	991	35	4	1484	4	MYO15A	17	18023596	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	525	18023596	63171614	12163	15779											
MYO15A	51168	broad.mit.edu	37	17	18060286	18060286	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:18060286G>A	ENST00000205890.5	+	49	8958	c.8620G>A	c.(8620-8622)Gct>Act	p.A2874T	MYO15A_ENST00000418233.3_Missense_Mutation_p.A138T	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	2874	SH3.|Tail.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					CTACGTGGTCGCTGTGAGGAA	0.622													4	45					0	0	1	0	0	A	18060286	G	A	18060286	3	1	81	1	0	0	0	0	1	0	0	0	10111	1087	38	1	8806	1	MYO15A	17	18060286	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	36690	18060286	63134924	12164	15780											
MYO15A	51168	broad.mit.edu	37	17	18077188	18077188	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:18077188C>A	ENST00000205890.5	+	65	10782	c.10444C>A	c.(10444-10446)Ctg>Atg	p.L3482M	MYO15A_ENST00000451725.2_Intron|MYO15A_ENST00000418233.3_Missense_Mutation_p.L746M|RP11-258F1.1_ENST00000577847.1_RNA	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	3482	FERM.|Tail.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					GGAGATTGCGCTGGGGGACGT	0.642													4	35					0.014758	0.0152304	1	1	0	A	18077188	C	A	18077188	3	1	81	1	0	0	0	0	1	0	0	0	10111	796	28	4	10694	4	MYO15A	17	18077188	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	16902	18077188	63118022	12165	15781											
ALKBH5	54890	broad.mit.edu	37	17	18110257	18110257	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:18110257G>A	ENST00000399138.4	+	3	985	c.980G>A	c.(979-981)cGc>cAc	p.R327H	ALKBH5_ENST00000541285.1_5'UTR	NM_017758.3	NP_060228.3	Q6P6C2	ALKB5_HUMAN	alkB, alkylation repair homolog 5 (E. coli)	327						integral to membrane	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(2)|ovary(1)|skin(1)	10	all_neural(463;0.228)					CGGTCCCACCGCAAGGCAGAC	0.587													64	124					0	0	1	0	0	A	18110257	G	A	18110257	3	1	81	1	0	0	0	0	1	0	0	0	526	1087	38	1	990	1	ALKBH5	17	18110257	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	33069	18110257	63084953	12166	15782											
LLGL1	3996	broad.mit.edu	37	17	18140194	18140194	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:18140194C>T	ENST00000316843.4	+	13	1648	c.1552C>T	c.(1552-1554)Cag>Tag	p.Q518*		NM_004140.3	NP_004131	Q15334	L2GL1_HUMAN	lethal giant larvae homolog 1 (Drosophila)	518					cortical actin cytoskeleton organization|exocytosis|protein complex assembly	cortical actin cytoskeleton	protein kinase binding|structural molecule activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_neural(463;0.228)					GCTTGGCGTGCAGAAGGTTGC	0.612													7	12					0	0	1	0	0	T	18140194	C	T	18140194	4	4	81	1	0	0	0	0	0	1	0	0	8874	711	25	2	1602	2	LLGL1	17	18140194	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	29937	18140194	63055016	12167	15783											
LLGL1	3996	broad.mit.edu	37	17	18145559	18145559	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:18145559G>A	ENST00000316843.4	+	20	3058	c.2962G>A	c.(2962-2964)Gga>Aga	p.G988R		NM_004140.3	NP_004131	Q15334	L2GL1_HUMAN	lethal giant larvae homolog 1 (Drosophila)	988					cortical actin cytoskeleton organization|exocytosis|protein complex assembly	cortical actin cytoskeleton	protein kinase binding|structural molecule activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_neural(463;0.228)					GAGCCTTGATGGAAGCCCTGA	0.642													54	90					0	0	1	0	0	A	18145559	G	A	18145559	3	1	81	1	0	0	0	0	1	0	0	0	8874	1349	47	2	3040	2	LLGL1	17	18145559	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	5365	18145559	63049651	12168	15784											
FLII	2314	broad.mit.edu	37	17	18156617	18156617	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:18156617G>A	ENST00000327031.4	-	9	1236	c.1011C>T	c.(1009-1011)tgC>tgT	p.C337C	FLII_ENST00000545457.2_Silent_p.C283C|FLII_ENST00000579294.1_Silent_p.C326C|FLII_ENST00000578558.1_Silent_p.C337C|FLII_ENST00000379450.4_Silent_p.C252C	NM_002018.3	NP_002009.1	Q13045	FLII_HUMAN	flightless I homolog (Drosophila)	337	Interaction with LRRFIP1 and LRRFIP2.				multicellular organismal development|muscle contraction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleus	actin binding			central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32	all_neural(463;0.228)					CCCAGCACCTGCAGAGACTTT	0.582													7	17					0	0	1	0	0	A	18156617	G	A	18156617	2	1	81	1	0	0	0	0	0	0	0	1	5958	1311	46	2		2	FLII	17	18156617	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	11058	18156617	63038593	12169	15785											
TOP3A	7156	broad.mit.edu	37	17	18181375	18181375	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:18181375T>A	ENST00000321105.5	-	18	2655	c.2441A>T	c.(2440-2442)aAc>aTc	p.N814I	TOP3A_ENST00000542570.1_Missense_Mutation_p.N719I|TOP3A_ENST00000540524.1_Missense_Mutation_p.N344I	NM_004618.3	NP_004609.1	Q13472	TOP3A_HUMAN	topoisomerase (DNA) III alpha	814	2 X 27 AA approximate repeats.				DNA topological change|meiosis	chromosome|PML body	ATP binding|DNA topoisomerase type I activity|protein binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(2)|urinary_tract(1)	36						CTGGCCACAGTTGCAGGTCAC	0.612													29	45					0	0	1	0	0	A	18181375	T	A	18181375	3	1	81	1	0	0	0	0	1	0	0	0	16428	1725	60	5	572	5	TOP3A	17	18181375	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	24758	18181375	63013835	12170	15786											
TOP3A	7156	broad.mit.edu	37	17	18186034	18186034	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:18186034G>T	ENST00000321105.5	-	16	2213	c.1999C>A	c.(1999-2001)Ctt>Att	p.L667I	TOP3A_ENST00000542570.1_Missense_Mutation_p.L572I|TOP3A_ENST00000540524.1_Missense_Mutation_p.L197I	NM_004618.3	NP_004609.1	Q13472	TOP3A_HUMAN	topoisomerase (DNA) III alpha	667					DNA topological change|meiosis	chromosome|PML body	ATP binding|DNA topoisomerase type I activity|protein binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(2)|urinary_tract(1)	36						TTGGTCTTAAGGACCATGTCC	0.577													7	116					5.18039e-06	5.88187e-06	1	1	0	T	18186034	G	T	18186034	3	4	81	1	0	0	0	0	1	0	0	0	16428	1000	35	4	1022	4	TOP3A	17	18186034	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	4659	18186034	63009176	12171	15787											
TOP3A	7156	broad.mit.edu	37	17	18194249	18194249	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:18194249G>A	ENST00000321105.5	-	12	1588	c.1374C>T	c.(1372-1374)atC>atT	p.I458I	TOP3A_ENST00000542570.1_Silent_p.I363I|TOP3A_ENST00000540524.1_5'UTR	NM_004618.3	NP_004609.1	Q13472	TOP3A_HUMAN	topoisomerase (DNA) III alpha	458					DNA topological change|meiosis	chromosome|PML body	ATP binding|DNA topoisomerase type I activity|protein binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(2)|urinary_tract(1)	36						GAGCGATGTCGATCTCCACTG	0.512													21	32					0	0	1	0	0	A	18194249	G	A	18194249	2	1	81	1	0	0	0	0	0	0	0	1	16428	1048	37	1		1	TOP3A	17	18194249	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	8215	18194249	63000961	12172	15788											
SMCR8	140775	broad.mit.edu	37	17	18226218	18226218	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:18226218G>A	ENST00000406438.3	+	2	3128	c.2648G>A	c.(2647-2649)cGc>cAc	p.R883H		NM_144775.2	NP_658988.2	Q8TEV9	SMCR8_HUMAN	Smith-Magenis syndrome chromosome region, candidate 8	883										breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21						GTAGCCAGCCGCCAGATGAGC	0.577													16	24					0	0	1	0	0	A	18226218	G	A	18226218	3	1	81	1	0	0	0	0	1	0	0	0	14846	1087	38	1	2654	1	SMCR8	17	18226218	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	31969	18226218	62968992	12173	15789											
SHMT1	6470	broad.mit.edu	37	17	18233940	18233940	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:18233940C>T	ENST00000316694.3	-	10	1234	c.1100G>A	c.(1099-1101)gGc>gAc	p.G367D	SHMT1_ENST00000539052.1_Missense_Mutation_p.G229D|SHMT1_ENST00000352886.6_Missense_Mutation_p.G287D|SHMT1_ENST00000354098.3_Missense_Mutation_p.G328D	NM_004169.3	NP_004160.3	P34896	GLYC_HUMAN	serine hydroxymethyltransferase 1 (soluble)	367					carnitine biosynthetic process|folic acid metabolic process|L-serine catabolic process|one-carbon metabolic process|purine base biosynthetic process	cytosol|nucleus	glycine hydroxymethyltransferase activity|protein homodimerization activity|pyridoxal phosphate binding			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)	13					Glycine(DB00145)|Mimosine(DB01055)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116)	ACCATCTGTGCCTTTGGAACG	0.483													17	29					0	0	1	0	0	T	18233940	C	T	18233940	3	4	81	1	0	0	0	0	1	0	0	0	14340	739	26	2	363	2	SHMT1	17	18233940	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	7722	18233940	62961270	12174	15790											
LGALS9C	654346	broad.mit.edu	37	17	18387258	18387258	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:18387258G>A	ENST00000328114.6	+	2	190	c.109G>A	c.(109-111)Gtt>Att	p.V37I	LGALS9C_ENST00000584941.1_Missense_Mutation_p.V37I|LGALS9C_ENST00000581545.1_Missense_Mutation_p.V37I|LGALS9C_ENST00000583322.1_Missense_Mutation_p.V37I|LGALS9C_ENST00000578983.1_3'UTR|LGALS9C_ENST00000412421.2_Intron	NM_001040078.2	NP_001035167.2	Q6DKI2	LEG9C_HUMAN	lectin, galactoside-binding, soluble, 9C	37	Galectin 1.						sugar binding			NS(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(2)	7						CAATGGGGCCGTTCTCAGCTG	0.562													41	9					0	0	1	0	0	A	18387258	G	A	18387258	3	1	81	1	0	0	0	0	1	0	0	0	8790	1145	40	1	115	1	LGALS9C	17	18387258	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	153318	18387258	62807952	12175	15791											
TBC1D28	254272	broad.mit.edu	37	17	18539872	18539872	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:18539872G>A	ENST00000345096.4	-	9	1235	c.536C>T	c.(535-537)gCa>gTa	p.A179V	TBC1D28_ENST00000405044.1_Missense_Mutation_p.A179V			Q2M2D7	TBC28_HUMAN	TBC1 domain family, member 28	179	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			breast(1)|large_intestine(5)|lung(2)|ovary(1)	9						AGGGTTATATGCAGAATAGGC	0.463													13	102					0	0	1	0	0	A	18539872	G	A	18539872	3	1	81	1	0	0	0	0	1	0	0	0	15674	1319	46	2	100	2	TBC1D28	17	18539872	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	152614	18539872	62655338	12176	15792											
FBXW10	10517	broad.mit.edu	37	17	18653282	18653282	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:18653282G>A	ENST00000308799.4	+	3	1137	c.918G>A	c.(916-918)tgG>tgA	p.W306*	FBXW10_ENST00000395667.1_Intron|FBXW10_ENST00000301938.4_Intron|FBXW10_ENST00000395665.4_Intron			Q5XX13	FBW10_HUMAN	F-box and WD repeat domain containing 10	293	F-box.									NS(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42						TCCCCTCTTGGCCCAGTTCTG	0.532													18	37					0	0	1	0	0	A	18653282	G	A	18653282	4	1	81	1	0	0	0	0	0	1	0	0	5796	1218	42	2		2	FBXW10	17	18653282	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	113410	18653282	62541928	12177	15793											
FBXW10	10517	broad.mit.edu	37	17	18681866	18681866	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:18681866C>A	ENST00000308799.4	+	12	2660	c.2441C>A	c.(2440-2442)tCt>tAt	p.S814Y	FBXW10_ENST00000395667.1_Missense_Mutation_p.S804Y|FBXW10_ENST00000301938.4_Missense_Mutation_p.S752Y|FBXW10_ENST00000395665.4_Missense_Mutation_p.S805Y			Q5XX13	FBW10_HUMAN	F-box and WD repeat domain containing 10	805										NS(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42						AAGAAAAAGTCTTGGAAAATC	0.448													12	15					0.00244969	0.00258825	1	1	0	A	18681866	C	A	18681866	3	1	81	1	0	0	0	0	1	0	0	0	5796	913	32	4	2465	4	FBXW10	17	18681866	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	28584	18681866	62513344	12178	15794											
FBXW10	10517	broad.mit.edu	37	17	18682533	18682533	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:18682533C>A	ENST00000308799.4	+	12	3327	c.3108C>A	c.(3106-3108)atC>atA	p.I1036I	FBXW10_ENST00000395667.1_Silent_p.I1026I|FBXW10_ENST00000301938.4_Silent_p.I974I|FBXW10_ENST00000395665.4_Silent_p.I1027I			Q5XX13	FBW10_HUMAN	F-box and WD repeat domain containing 10	1027										NS(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42						TCAGGAAGATCAAAGGCCTGC	0.463													22	30					1.22574e-08	1.46304e-08	1	1	0	A	18682533	C	A	18682533	2	1	81	1	0	0	0	0	0	0	0	1	5796	816	29	5		5	FBXW10	17	18682533	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	667	18682533	62512677	12179	15795											
SLC5A10	125206	broad.mit.edu	37	17	18863864	18863864	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:18863864G>A	ENST00000317977.6	+	5	755	c.184G>A	c.(184-186)Gtc>Atc	p.V62I	SLC5A10_ENST00000395643.2_Missense_Mutation_p.V118I|SLC5A10_ENST00000395645.3_Missense_Mutation_p.V118I|SLC5A10_ENST00000395647.2_Missense_Mutation_p.V118I|SLC5A10_ENST00000417251.2_Missense_Mutation_p.V118I|SLC5A10_ENST00000395642.1_Missense_Mutation_p.V62I	NM_001282417.1	NP_001269346.1	A0PJK1	SC5AA_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 10	118					sodium ion transport|transmembrane transport	integral to membrane	transporter activity			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(3)|ovary(3)|prostate(3)|skin(3)	24						TTCCCAGATCGTCACCTTACC	0.587											OREG0024231	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	42	72					0	0	1	0	0	A	18863864	G	A	18863864	3	1	81	1	0	0	0	0	1	0	0	0	14717	1145	40	1	370	1	SLC5A10	17	18863864	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	181331	18863864	62331346	12180	15796											
FAM83G	644815	broad.mit.edu	37	17	18874841	18874841	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:18874841C>T	ENST00000388995.6	-	6	2526	c.2303G>A	c.(2302-2304)cGc>cAc	p.R768H	FAM83G_ENST00000585154.2_Missense_Mutation_p.R768H|SLC5A10_ENST00000395643.2_Intron|SLC5A10_ENST00000395645.3_Intron|SLC5A10_ENST00000395647.2_Intron|SLC5A10_ENST00000417251.2_Intron|SLC5A10_ENST00000395642.1_Intron|FAM83G_ENST00000345041.4_Missense_Mutation_p.R768H|SLC5A10_ENST00000317977.6_Intron			A6ND36	FA83G_HUMAN	family with sequence similarity 83, member G	768										central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						GGTCATGGGGCGGGCATTTTG	0.657													12	130					0	0	1	0	0	T	18874841	C	T	18874841	3	4	81	1	0	0	0	0	1	0	0	0	5671	768	27	1	172	1	FAM83G	17	18874841	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	10977	18874841	62320369	12181	15797											
FAM83G	644815	broad.mit.edu	37	17	18881653	18881653	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:18881653G>A	ENST00000388995.6	-	5	1549	c.1326C>T	c.(1324-1326)agC>agT	p.S442S	FAM83G_ENST00000585154.2_Silent_p.S442S|SLC5A10_ENST00000395643.2_Intron|SLC5A10_ENST00000395645.3_Intron|SLC5A10_ENST00000395647.2_Intron|SLC5A10_ENST00000417251.2_Intron|SLC5A10_ENST00000395642.1_Intron|FAM83G_ENST00000345041.4_Silent_p.S442S|SLC5A10_ENST00000317977.6_Intron			A6ND36	FA83G_HUMAN	family with sequence similarity 83, member G	442										central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						GGTTCATCTGGCTGGGCTGGG	0.637													3	14					0	0	1	0	0	A	18881653	G	A	18881653	2	1	81	1	0	0	0	0	0	0	0	1	5671	1194	42	2		2	FAM83G	17	18881653	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	6812	18881653	62313557	12182	15798											
GRAP	10750	broad.mit.edu	37	17	18925335	18925335	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:18925335C>T	ENST00000573099.1	-	4	492	c.422G>A	c.(421-423)gGg>gAg	p.G141E	GRAP_ENST00000284154.5_Silent_p.R197R|GRAP_ENST00000395635.1_Silent_p.R168R|SLC5A10_ENST00000317977.6_3'UTR			Q13588	GRAP_HUMAN	GRB2-related adaptor protein	0	SH2.				cell-cell signaling|Ras protein signal transduction	cytoplasm	SH3/SH2 adaptor activity			large_intestine(1)|urinary_tract(1)	2	all_cancers(12;0.0183)					AGGACCGGCCCCGCCACCAGT	0.672													6	11					0	0	1	0	0	T	18925335	C	T	18925335	3	4	81	1	0	0	0	0	1	0	0	0	6794	610	22	2	66	2	GRAP	17	18925335	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	43682	18925335	62269875	12183	15799											
EPN2	22905	broad.mit.edu	37	17	19232897	19232897	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:19232897C>A	ENST00000314728.5	+	9	1832	c.1348C>A	c.(1348-1350)Ctg>Atg	p.L450M	EPN2_ENST00000347697.2_Missense_Mutation_p.L393M|EPN2_ENST00000395618.3_Missense_Mutation_p.L165M|EPN2_ENST00000395620.2_Missense_Mutation_p.L393M|EPN2_ENST00000571254.1_Missense_Mutation_p.L386M|EPN2_ENST00000575595.1_Missense_Mutation_p.L158M|EPN2_ENST00000395626.1_Missense_Mutation_p.L450M	NM_014964.4	NP_055779.2	O95208	EPN2_HUMAN	epsin 2	450	6 X 3 AA repeats of [DE]-P-W.				endocytosis		lipid binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	19	all_cancers(12;3.11e-05)|all_epithelial(12;0.00121)|Hepatocellular(7;0.00345)|Breast(13;0.143)					CTTCAGTAATCTGAATGGTAC	0.458													5	110					0.014758	0.0152304	1	1	0	A	19232897	C	A	19232897	3	1	81	1	0	0	0	0	1	0	0	0	5214	912	32	4	1374	4	EPN2	17	19232897	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	307562	19232897	61962313	12184	15800											
MAPK7	5598	broad.mit.edu	37	17	19283924	19283924	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:19283924C>T	ENST00000308406.5	+	4	788	c.402C>T	c.(400-402)taC>taT	p.Y134Y	MAPK7_ENST00000395604.3_Silent_p.Y134Y|MAPK7_ENST00000395602.4_Silent_p.Y134Y|MAPK7_ENST00000571657.1_Intron|MAPK7_ENST00000299612.7_5'UTR	NM_139033.2	NP_620602.2	Q13164	MK07_HUMAN	mitogen-activated protein kinase 7	134	Protein kinase.|Required for binding to MAP2K5 (By similarity).				cell cycle|cell differentiation|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase activity|protein binding			autonomic_ganglia(1)|central_nervous_system(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(9)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	30	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)					CTTCCAGCTACGTGGTCCTGG	0.572													17	29					0	0	1	0	0	T	19283924	C	T	19283924	2	4	81	1	0	0	0	0	0	0	0	1	9332	547	19	1		1	MAPK7	17	19283924	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	51027	19283924	61911286	12185	15801											
MAPK7	5598	broad.mit.edu	37	17	19285153	19285153	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:19285153C>T	ENST00000308406.5	+	5	1923	c.1537C>T	c.(1537-1539)Cgc>Tgc	p.R513C	MAPK7_ENST00000395604.3_Missense_Mutation_p.R513C|MAPK7_ENST00000395602.4_Missense_Mutation_p.R513C|MAPK7_ENST00000571657.1_Intron|MAPK7_ENST00000299612.7_Missense_Mutation_p.R374C	NM_139033.2	NP_620602.2	Q13164	MK07_HUMAN	mitogen-activated protein kinase 7	513	Arg-rich.|May not be required for kinase activity; required to stimulate MEF2C activity (By similarity).|Nuclear localization signal (By similarity).|Pro-rich.				cell cycle|cell differentiation|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase activity|protein binding			autonomic_ganglia(1)|central_nervous_system(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(9)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	30	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)					AGCCcaggagcgccagcggga	0.692													4	2					0	0	1	0	0	T	19285153	C	T	19285153	3	4	81	1	0	0	0	0	1	0	0	0	9332	768	27	1	1551	1	MAPK7	17	19285153	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1229	19285153	61910057	12186	15802											
RNF112	7732	broad.mit.edu	37	17	19316255	19316255	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:19316255C>T	ENST00000461366.1	+	4	601	c.386C>T	c.(385-387)aCg>aTg	p.T129M	CTB-187M2.2_ENST00000579897.1_RNA|RNF112_ENST00000580109.1_Intron	NM_007148.4	NP_009079.2	Q7Z5V9	Q7Z5V9_HUMAN	ring finger protein 112	129							GTP binding|GTPase activity|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|urinary_tract(1)	12						GCCCAGGAGACGTGTCCTGTG	0.617													3	6					0	0	1	0	0	T	19316255	C	T	19316255	3	4	81	1	0	0	0	0	1	0	0	0	13478	536	19	1	110	1	RNF112	17	19316255	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	31102	19316255	61878955	12187	15803											
SLC47A1	55244	broad.mit.edu	37	17	19480755	19480755	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:19480755C>T	ENST00000270570.4	+	17	1688	c.1602C>T	c.(1600-1602)ggC>ggT	p.G534G	SLC47A1_ENST00000571335.1_Silent_p.G280G|RP11-1113L8.1_ENST00000574267.1_RNA|SLC47A1_ENST00000395585.1_Silent_p.G534G|SLC47A1_ENST00000436810.2_3'UTR|SLC47A1_ENST00000457293.1_Silent_p.G534G|SLC47A1_ENST00000575023.1_Silent_p.G232G	NM_018242.2	NP_060712.2	Q96FL8	S47A1_HUMAN	solute carrier family 47 (multidrug and toxin extrusion), member 1	534						integral to membrane|plasma membrane	drug:hydrogen antiporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(5)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	23	all_cancers(12;2.49e-05)|all_epithelial(12;0.00263)|Hepatocellular(7;0.00345)					CACAGGACGGCGCTAAATTGT	0.507													57	98					0	0	1	0	0	T	19480755	C	T	19480755	2	4	81	1	0	0	0	0	0	0	0	1	14702	755	27	1		1	SLC47A1	17	19480755	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	164500	19480755	61714455	12188	15804											
SLC47A2	146802	broad.mit.edu	37	17	19610012	19610012	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:19610012G>T	ENST00000350657.5	-	9	964	c.790C>A	c.(790-792)Ctc>Atc	p.L264I	SLC47A2_ENST00000463318.1_5'UTR|SLC47A2_ENST00000325411.5_Missense_Mutation_p.L300I	NM_001099646.1|NM_001256663.1	NP_001093116.1|NP_001243592.1	Q86VL8	S47A2_HUMAN	solute carrier family 47 (multidrug and toxin extrusion), member 2	300						integral to membrane|plasma membrane	drug:hydrogen antiporter activity			endometrium(2)|kidney(3)|large_intestine(2)|lung(1)|ovary(1)	9	all_cancers(12;2.3e-05)|all_epithelial(12;0.0024)|Breast(13;0.245)					CAGATCATGAGCATGCTGGGG	0.627													22	51					6.21321e-17	7.99314e-17	1	1	0	T	19610012	G	T	19610012	3	4	81	1	0	0	0	0	1	0	0	0	14703	971	34	4	946	4	SLC47A2	17	19610012	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	129257	19610012	61585198	12189	15805											
ALDH3A1	218	broad.mit.edu	37	17	19645413	19645413	+	Missense_Mutation	SNP	G	G	A	rs139173953	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:19645413G>A	ENST00000457500.2	-	4	922	c.593C>T	c.(592-594)aCg>aTg	p.T198M	ALDH3A1_ENST00000494157.2_Missense_Mutation_p.T125M|ALDH3A1_ENST00000395555.3_Missense_Mutation_p.T198M|ALDH3A1_ENST00000444455.1_Missense_Mutation_p.T198M|ALDH3A1_ENST00000225740.6_Missense_Mutation_p.T198M	NM_001135168.1	NP_001128640.1	P30838	AL3A1_HUMAN	aldehyde dehydrogenase 3 family, member A1	198					cellular aldehyde metabolic process	cytosol|endoplasmic reticulum	alcohol dehydrogenase (NADP+) activity|aldehyde dehydrogenase|aldehyde dehydrogenase (NAD) activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|urinary_tract(1)	13	all_cancers(12;4.01e-05)|all_epithelial(12;0.00301)|Breast(13;0.186)			Colorectal(15;0.0829)	NADH(DB00157)	GGCAGCAGCCGTCATGATGAT	0.607													13	27					0	0	1	0	0	A	19645413	G	A	19645413	3	1	81	1	0	0	0	0	1	0	0	0	494	1145	40	1	796	1	ALDH3A1	17	19645413	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	35401	19645413	61549797	12190	15806	77	2									
ALDH3A1	218	broad.mit.edu	37	17	19645423	19645423	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:19645423T>C	ENST00000457500.2	-	4	912	c.583A>G	c.(583-585)Atc>Gtc	p.I195V	ALDH3A1_ENST00000494157.2_Missense_Mutation_p.I122V|ALDH3A1_ENST00000395555.3_Missense_Mutation_p.I195V|ALDH3A1_ENST00000444455.1_Missense_Mutation_p.I195V|ALDH3A1_ENST00000225740.6_Missense_Mutation_p.I195V	NM_001135168.1	NP_001128640.1	P30838	AL3A1_HUMAN	aldehyde dehydrogenase 3 family, member A1	195					cellular aldehyde metabolic process	cytosol|endoplasmic reticulum	alcohol dehydrogenase (NADP+) activity|aldehyde dehydrogenase|aldehyde dehydrogenase (NAD) activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|urinary_tract(1)	13	all_cancers(12;4.01e-05)|all_epithelial(12;0.00301)|Breast(13;0.186)			Colorectal(15;0.0829)	NADH(DB00157)	GTCATGATGATCTTCCCCACC	0.597													14	24					0	0	1	0	0	C	19645423	T	C	19645423	3	2	81	1	0	0	0	0	1	0	0	0	494	1435	50	3	806	3	ALDH3A1	17	19645423	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	10	19645423	61549787	12191	15807	77	2									
ULK2	9706	broad.mit.edu	37	17	19679690	19679690	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:19679690G>A	ENST00000395544.4	-	27	3582	c.3083C>T	c.(3082-3084)gCg>gTg	p.A1028V	ULK2_ENST00000361658.2_Missense_Mutation_p.A1028V	NM_014683.3	NP_055498.3	Q8IYT8	ULK2_HUMAN	unc-51 like autophagy activating kinase 2	1028					signal transduction		ATP binding|protein binding|protein serine/threonine kinase activity			large_intestine(1)|skin(4)|stomach(1)	6	all_cancers(12;4.97e-05)|all_epithelial(12;0.00362)|Breast(13;0.186)					ATGGCAGAGCGCCGACAGTCT	0.428													4	3					0	0	1	0	0	A	19679690	G	A	19679690	3	1	81	1	0	0	0	0	1	0	0	0	17036	1087	38	1	31	1	ULK2	17	19679690	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	34267	19679690	61515520	12192	15808											
ULK2	9706	broad.mit.edu	37	17	19708066	19708066	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:19708066C>T	ENST00000395544.4	-	15	1734	c.1235G>A	c.(1234-1236)cGc>cAc	p.R412H	ULK2_ENST00000361658.2_Missense_Mutation_p.R412H|ULK2_ENST00000580130.1_5'UTR	NM_014683.3	NP_055498.3	Q8IYT8	ULK2_HUMAN	unc-51 like autophagy activating kinase 2	412					signal transduction		ATP binding|protein binding|protein serine/threonine kinase activity			large_intestine(1)|skin(4)|stomach(1)	6	all_cancers(12;4.97e-05)|all_epithelial(12;0.00362)|Breast(13;0.186)					CTGCTCTATGCGCTGATAATT	0.403													33	34					0	0	1	0	0	T	19708066	C	T	19708066	3	4	81	1	0	0	0	0	1	0	0	0	17036	768	27	1	1927	1	ULK2	17	19708066	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	28376	19708066	61487144	12193	15809											
ULK2	9706	broad.mit.edu	37	17	19729453	19729453	+	Splice_Site	DEL	T	T	-			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:19729453delT	ENST00000395544.4	-	11	1333	c.834delA	c.(832-834)aaa>aa	p.K278fs	ULK2_ENST00000361658.2_Splice_Site_p.K278fs|ULK2_ENST00000580130.1_Intron	NM_014683.3	NP_055498.3	Q8IYT8	ULK2_HUMAN	unc-51 like autophagy activating kinase 2	278					signal transduction		ATP binding|protein binding|protein serine/threonine kinase activity	p.K278fs*130(1)		large_intestine(1)|skin(4)|stomach(1)	6	all_cancers(12;4.97e-05)|all_epithelial(12;0.00362)|Breast(13;0.186)					GATACTCACATTTTTTTACTG	0.294													12	91	---	---	---	---						-	19729453	T	-	19729453	8	5	81	1	0	1	0	1	0	0	1	0	17036	1507	52	0	2344	0	ULK2	17	19729453	Splice_Site	DEL	T	TCGA-DU-6392-01A-11D-1705-08	21387	19729453	61465757	12194	15810											
ULK2	9706	broad.mit.edu	37	17	19750088	19750088	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:19750088C>T	ENST00000395544.4	-	6	930	c.431G>A	c.(430-432)cGc>cAc	p.R144H	ULK2_ENST00000361658.2_Missense_Mutation_p.R144H	NM_014683.3	NP_055498.3	Q8IYT8	ULK2_HUMAN	unc-51 like autophagy activating kinase 2	144	Protein kinase.				signal transduction		ATP binding|protein binding|protein serine/threonine kinase activity			large_intestine(1)|skin(4)|stomach(1)	6	all_cancers(12;4.97e-05)|all_epithelial(12;0.00362)|Breast(13;0.186)					TGATTTTCTGCGATTGGCATA	0.403													94	154					0	0	1	0	0	T	19750088	C	T	19750088	3	4	81	1	0	0	0	0	1	0	0	0	17036	768	27	1	2767	1	ULK2	17	19750088	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	20635	19750088	61445122	12195	15811											
CCDC144NL	339184	broad.mit.edu	37	17	20799212	20799212	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:20799212G>A	ENST00000327925.5	-	1	241	c.122C>T	c.(121-123)cCg>cTg	p.P41L	RP11-344E13.3_ENST00000439794.2_RNA|RP11-344E13.3_ENST00000577537.1_RNA|RP11-344E13.3_ENST00000583962.1_RNA|RP11-344E13.3_ENST00000582324.1_RNA|RP11-344E13.3_ENST00000577860.1_RNA|RP11-344E13.3_ENST00000417232.2_RNA	NM_001004306.1	NP_001004306.1	Q6NUI1	C144L_HUMAN	coiled-coil domain containing 144 family, N-terminal like	41										large_intestine(3)|lung(3)|skin(1)	7						CTGGTCCCCCGGGTAGTCCAA	0.647													26	23					0	0	1	0	0	A	20799212	G	A	20799212	3	1	81	1	0	0	0	0	1	0	0	0	2797	1116	39	1	559	1	CCDC144NL	17	20799212	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1049124	20799212	60395998	12196	15812											
USP22	23326	broad.mit.edu	37	17	20922431	20922431	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:20922431C>T	ENST00000261497.4	-	4	689	c.486G>A	c.(484-486)ccG>ccA	p.P162P	USP22_ENST00000537526.2_Silent_p.P150P|USP22_ENST00000455117.2_Intron	NM_015276.1	NP_056091.1	Q9UPT9	UBP22_HUMAN	ubiquitin specific peptidase 22	162					cell cycle|embryo development|histone deubiquitination|histone H4 acetylation|histone ubiquitination|positive regulation of mitotic cell cycle|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	SAGA complex	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	15						TTCTCCTTTTCGGGTTGTGCT	0.473													42	67					0	0	1	0	0	T	20922431	C	T	20922431	2	4	81	1	0	0	0	0	0	0	0	1	17114	871	31	1		1	USP22	17	20922431	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	123219	20922431	60272779	12197	15813											
MAP2K3	5606	broad.mit.edu	37	17	21201737	21201737	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:21201737G>A	ENST00000342679.4	+	2	311	c.62G>A	c.(61-63)aGg>aAg	p.R21K	MAP2K3_ENST00000316920.6_5'UTR|MAP2K3_ENST00000361818.5_5'UTR	NM_145109.2	NP_659731.1	P46734	MP2K3_HUMAN	mitogen-activated protein kinase kinase 3	21					activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of transcription, DNA-dependent|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity								COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553)		AAATCCAAGAGGAAGAAGGAT	0.572													49	192					0	0	1	0	0	A	21201737	G	A	21201737	3	1	81	1	0	0	0	0	1	0	0	0	9288	1000	35	2	68	2	MAP2K3	17	21201737	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	279306	21201737	59993473	12198	15814											
MAP2K3	5606	broad.mit.edu	37	17	21205482	21205482	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:21205482A>G	ENST00000342679.4	+	6	676	c.427A>G	c.(427-429)Atg>Gtg	p.M143V	MAP2K3_ENST00000316920.6_Missense_Mutation_p.M114V|MAP2K3_ENST00000361818.5_Missense_Mutation_p.M114V	NM_145109.2	NP_659731.1	P46734	MP2K3_HUMAN	mitogen-activated protein kinase kinase 3	143	Protein kinase.				activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of transcription, DNA-dependent|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity								COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553)		CATGGAGCTCATGGACACATC	0.577													4	35					0	0	1	0	0	G	21205482	A	G	21205482	3	3	81	1	0	0	0	0	1	0	0	0	9288	217	8	3	449	3	MAP2K3	17	21205482	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	3745	21205482	59989728	12199	15815											
KCNJ12	3768	broad.mit.edu	37	17	21319618	21319618	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:21319618C>A	ENST00000583088.1	+	3	1859	c.964C>A	c.(964-966)Ctg>Atg	p.L322M	KCNJ12_ENST00000331718.5_Missense_Mutation_p.L322M	NM_021012.4	NP_066292.2			potassium inwardly-rectifying channel, subfamily J, member 12									p.L322L(1)		NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)		CAATGAGATCCTGTGGGGTCA	0.582										Prostate(3;0.18)			19	109					5.35267e-07	6.21096e-07	1	1	0	A	21319618	C	A	21319618	3	1	81	1	0	0	0	0	1	0	0	0	8090	680	24	4	966	4	KCNJ12	17	21319618	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	114136	21319618	59875592	12200	15816											
WSB1	26118	broad.mit.edu	37	17	25639315	25639315	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:25639315C>T	ENST00000262394.2	+	9	1502	c.1186C>T	c.(1186-1188)Cga>Tga	p.R396*	WSB1_ENST00000348811.2_Nonsense_Mutation_p.R250*	NM_015626.8	NP_056441.6	Q9Y6I7	WSB1_HUMAN	WD repeat and SOCS box containing 1	396	SOCS box.				intracellular signal transduction	intracellular	protein binding			lung(3)	3	all_cancers(1;2e-13)|all_epithelial(1;4.8e-15)|Lung NSC(42;0.00152)		BRCA - Breast invasive adenocarcinoma(3;0.0152)	UCEC - Uterine corpus endometrioid carcinoma (53;0.154)		CATGTCAATCCGAAGAGTGAT	0.473													134	222					0	0	1	0	0	T	25639315	C	T	25639315	4	4	81	1	0	0	0	0	0	1	0	0	17464	644	23	1	1220	1	WSB1	17	25639315	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	4319697	25639315	55555895	12201	15817											
KSR1	8844	broad.mit.edu	37	17	25909752	25909752	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:25909752C>A	ENST00000398988.3	+	5	635	c.190C>A	c.(190-192)Ctc>Atc	p.L64I	KSR1_ENST00000509603.2_Missense_Mutation_p.L201I|KSR1_ENST00000268763.6_Missense_Mutation_p.L64I|KSR1_ENST00000319524.6_Missense_Mutation_p.L201I	NM_014238.1	NP_055053.1	Q8IVT5	KSR1_HUMAN	kinase suppressor of ras 1	199					Ras protein signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	28	Lung NSC(42;0.00836)		BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		CACGGACACCCTCTCAGCAGC	0.667													13	26					1.49906e-05	1.6816e-05	1	1	0	A	25909752	C	A	25909752	3	1	81	1	0	0	0	0	1	0	0	0	8620	681	24	4	196	4	KSR1	17	25909752	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	270437	25909752	55285458	12202	15818											
NOS2	4843	broad.mit.edu	37	17	26087105	26087105	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:26087105A>G	ENST00000313735.6	-	25	3343	c.3110T>C	c.(3109-3111)gTg>gCg	p.V1037A		NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN	nitric oxide synthase 2, inducible	1037					arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process	cytosol|nucleus	arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56					Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)	CGCATGCAGCACCCCCTTCTG	0.602											OREG0024268	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	59					0	0	1	0	0	G	26087105	A	G	26087105	3	3	81	1	0	0	0	0	1	0	0	0	10590	159	6	3	363	3	NOS2	17	26087105	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	177353	26087105	55108105	12203	15819											
NOS2	4843	broad.mit.edu	37	17	26110133	26110133	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:26110133C>A	ENST00000313735.6	-	6	701		c.e6-1			NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN	nitric oxide synthase 2, inducible						arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process	cytosol|nucleus	arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56					Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)	TATTTTTGCCCTGGGGGACAG	0.483													18	45					1.87028e-06	2.14967e-06	1	1	0	A	26110133	C	A	26110133	5	1	81	1	0	0	0	0	0	0	1	0	10590	695	24	4	3082	4	NOS2	17	26110133	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	23028	26110133	55085077	12204	15820											
NLK	51701	broad.mit.edu	37	17	26518101	26518101	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:26518101C>T	ENST00000407008.3	+	9	2009	c.1291C>T	c.(1291-1293)Cga>Tga	p.R431*		NM_016231.4	NP_057315.3	Q9UBE8	NLK_HUMAN	nemo-like kinase	431					intracellular protein kinase cascade|negative regulation of Wnt receptor signaling pathway|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|serine phosphorylation of STAT3 protein|transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway|Wnt receptor signaling pathway	cytoplasm|nucleus	ATP binding|magnesium ion binding|MAP kinase activity|SH2 domain binding|transcription factor binding|ubiquitin protein ligase binding	p.R431*(1)|p.R419*(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(1)	14	all_lung(13;0.000343)|Lung NSC(42;0.00184)			UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		AGATGAAGGGCGACTACGATA	0.423													25	49					0	0	1	0	0	T	26518101	C	T	26518101	4	4	81	1	0	0	0	0	0	1	0	0	10513	760	27	1	1325	1	NLK	17	26518101	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	407968	26518101	54677109	12205	15821											
TMEM97	27346	broad.mit.edu	37	17	26653718	26653718	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:26653718G>A	ENST00000226230.6	+	3	575	c.430G>A	c.(430-432)Gtg>Atg	p.V144M	TMEM97_ENST00000583381.1_Missense_Mutation_p.V37M|TMEM97_ENST00000336687.6_Missense_Mutation_p.V37M	NM_014573.2	NP_055388.2	Q5BJF2	TMM97_HUMAN	transmembrane protein 97	144					cholesterol homeostasis|regulation of cell growth	integral to membrane|lysosome|nuclear membrane|plasma membrane|rough endoplasmic reticulum	protein binding			endometrium(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	6	all_lung(13;0.000238)|Lung NSC(42;0.000789)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)		GTTAACCCTTGTGTCTGTCTA	0.403													4	28					0	0	1	0	0	A	26653718	G	A	26653718	3	1	81	1	0	0	0	0	1	0	0	0	16284	1377	48	2	440	2	TMEM97	17	26653718	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	135617	26653718	54541492	12206	15822											
TNFAIP1	7126	broad.mit.edu	37	17	26666704	26666704	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:26666704C>T	ENST00000226225.2	+	2	424	c.157C>T	c.(157-159)Ctc>Ttc	p.L53F	TNFAIP1_ENST00000544907.2_Intron|TNFAIP1_ENST00000583213.1_Intron	NM_021137.4	NP_066960.1	Q13829	BACD2_HUMAN	tumor necrosis factor, alpha-induced protein 1 (endothelial)	53	BTB.				apoptosis|cell migration|DNA replication|embryo development|immune response|negative regulation of Rho protein signal transduction|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|stress fiber assembly	Cul3-RING ubiquitin ligase complex|endosome|nucleus|voltage-gated potassium channel complex	GTP-Rho binding|voltage-gated potassium channel activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)	12	all_lung(13;0.000294)|Lung NSC(42;0.000964)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)		CGACACCATGCTCAAGGCCAT	0.627													20	43					0	0	1	0	0	T	26666704	C	T	26666704	3	4	81	1	0	0	0	0	1	0	0	0	16332	797	28	2	159	2	TNFAIP1	17	26666704	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	12986	26666704	54528506	12207	15823											
TNFAIP1	7126	broad.mit.edu	37	17	26668285	26668285	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:26668285C>A	ENST00000226225.2	+	4	665	c.398C>A	c.(397-399)cCt>cAt	p.P133H	TNFAIP1_ENST00000544907.2_Missense_Mutation_p.P29H|TNFAIP1_ENST00000583213.1_3'UTR	NM_021137.4	NP_066960.1	Q13829	BACD2_HUMAN	tumor necrosis factor, alpha-induced protein 1 (endothelial)	133					apoptosis|cell migration|DNA replication|embryo development|immune response|negative regulation of Rho protein signal transduction|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|stress fiber assembly	Cul3-RING ubiquitin ligase complex|endosome|nucleus|voltage-gated potassium channel complex	GTP-Rho binding|voltage-gated potassium channel activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)	12	all_lung(13;0.000294)|Lung NSC(42;0.000964)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)		TCCTACCAGCCTGTGTGCAAC	0.567													9	102					0.00621372	0.00649472	1	1	0	A	26668285	C	A	26668285	3	1	81	1	0	0	0	0	1	0	0	0	16332	681	24	4	408	4	TNFAIP1	17	26668285	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1581	26668285	54526925	12208	15824											
SARM1	23098	broad.mit.edu	37	17	26715466	26715466	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:26715466G>A	ENST00000457710.3	+	7	2200	c.1729G>A	c.(1729-1731)Gtc>Atc	p.V577I	SARM1_ENST00000379061.4_3'UTR	NM_015077.2	NP_055892.2	Q6SZW1	SARM1_HUMAN	sterile alpha and TIR motif containing 1	611	TIR.				innate immune response	cytoplasm|intrinsic to membrane	binding|transmembrane receptor activity			cervix(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	12	all_lung(13;0.000533)|Lung NSC(42;0.00171)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)		CATCCAGAGTGTCATGGGTGC	0.527													31	64					0	0	1	0	0	A	26715466	G	A	26715466	3	1	81	1	0	0	0	0	1	0	0	0	13895	1377	48	2	1855	2	SARM1	17	26715466	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	47181	26715466	54479744	12209	15825											
SLC13A2	9058	broad.mit.edu	37	17	26817589	26817589	+	Missense_Mutation	SNP	G	G	A	rs11568463		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:26817589G>A	ENST00000444914.3	+	3	916	c.496G>A	c.(496-498)Gtt>Att	p.V166I	SLC13A2_ENST00000537681.1_Missense_Mutation_p.V46I|SLC13A2_ENST00000545060.1_Missense_Mutation_p.V74I|SLC13A2_ENST00000314669.5_Missense_Mutation_p.V117I	NM_001145975.1	NP_001139447.1	Q13183	S13A2_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2	117						integral to plasma membrane|membrane fraction	low affinity sodium:dicarboxylate symporter activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_lung(13;0.000871)|Lung NSC(42;0.0027)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	Succinic acid(DB00139)	CCTCCTCATCGTTGGGGTGCG	0.607													21	33					0	0	1	0	0	A	26817589	G	A	26817589	3	1	81	1	0	0	0	0	1	0	0	0	14447	1145	40	1	506	1	SLC13A2	17	26817589	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	102123	26817589	54377621	12210	15826											
SLC13A2	9058	broad.mit.edu	37	17	26818459	26818459	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:26818459T>C	ENST00000444914.3	+	5	1146	c.726T>C	c.(724-726)aaT>aaC	p.N242N	SLC13A2_ENST00000537681.1_Silent_p.N122N|SLC13A2_ENST00000545060.1_Silent_p.N150N|SLC13A2_ENST00000314669.5_Silent_p.N193N	NM_001145975.1	NP_001139447.1	Q13183	S13A2_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2	193						integral to plasma membrane|membrane fraction	low affinity sodium:dicarboxylate symporter activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_lung(13;0.000871)|Lung NSC(42;0.0027)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	Succinic acid(DB00139)	TCCCAGATAATGGGCAGGCCC	0.642													18	26					0	0	1	0	0	C	26818459	T	C	26818459	2	2	81	1	0	0	0	0	0	0	0	1	14447	1461	51	3		3	SLC13A2	17	26818459	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	870	26818459	54376751	12211	15827											
SLC13A2	9058	broad.mit.edu	37	17	26820593	26820593	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:26820593C>T	ENST00000444914.3	+	7	1450	c.1030C>T	c.(1030-1032)Cgg>Tgg	p.R344W	SLC13A2_ENST00000537681.1_Missense_Mutation_p.R224W|SLC13A2_ENST00000545060.1_Missense_Mutation_p.R252W|SLC13A2_ENST00000314669.5_Missense_Mutation_p.R295W	NM_001145975.1	NP_001139447.1	Q13183	S13A2_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2	295						integral to plasma membrane|membrane fraction	low affinity sodium:dicarboxylate symporter activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_lung(13;0.000871)|Lung NSC(42;0.0027)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	Succinic acid(DB00139)	CTGCAGCTTCCGGAAGAACTT	0.622													5	9					0	0	1	0	0	T	26820593	C	T	26820593	3	4	81	1	0	0	0	0	1	0	0	0	14447	643	23	1	1056	1	SLC13A2	17	26820593	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2134	26820593	54374617	12212	15828											
SLC13A2	9058	broad.mit.edu	37	17	26820649	26820649	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:26820649C>T	ENST00000444914.3	+	7	1506	c.1086C>T	c.(1084-1086)tgC>tgT	p.C362C	SLC13A2_ENST00000537681.1_Silent_p.C242C|SLC13A2_ENST00000545060.1_Silent_p.C270C|SLC13A2_ENST00000314669.5_Silent_p.C313C	NM_001145975.1	NP_001139447.1	Q13183	S13A2_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2	313						integral to plasma membrane|membrane fraction	low affinity sodium:dicarboxylate symporter activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_lung(13;0.000871)|Lung NSC(42;0.0027)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	Succinic acid(DB00139)	CAGCCTACTGCGTCATCCAGA	0.607													12	26					0	0	1	0	0	T	26820649	C	T	26820649	2	4	81	1	0	0	0	0	0	0	0	1	14447	776	27	1		1	SLC13A2	17	26820649	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	56	26820649	54374561	12213	15829											
FOXN1	8456	broad.mit.edu	37	17	26861379	26861379	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:26861379C>T	ENST00000226247.2	+	6	987	c.958C>T	c.(958-960)Cgg>Tgg	p.R320W	FOXN1_ENST00000579795.1_Missense_Mutation_p.R320W	NM_003593.2	NP_003584.2	O15353	FOXN1_HUMAN	forkhead box N1	320					defense response|embryo development|epithelial cell proliferation|keratinocyte differentiation|organ morphogenesis|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|thymus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Lung NSC(42;0.00431)					GAATTCTGTCCGGCACAACCT	0.572													26	41					0	0	1	0	0	T	26861379	C	T	26861379	3	4	81	1	0	0	0	0	1	0	0	0	6053	643	23	1	980	1	FOXN1	17	26861379	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	40730	26861379	54333831	12214	15830											
UNC119	9094	broad.mit.edu	37	17	26874428	26874428	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:26874428C>T	ENST00000484980.1	-	4	3487		c.e4-1		UNC119_ENST00000470125.1_3'UTR|UNC119_ENST00000335765.4_Splice_Site|UNC119_ENST00000301032.4_3'UTR			Q13432	U119A_HUMAN	unc-119 homolog (C. elegans)						phototransduction|synaptic transmission|visual perception	cytosol|soluble fraction				breast(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)	7	Lung NSC(42;0.00431)					ATCTCGCTGACTGCAAGAGAG	0.582													9	11					0	0	1	0	0	T	26874428	C	T	26874428	5	4	81	1	0	0	0	0	0	0	1	0	17042	579	20	2	116	2	UNC119	17	26874428	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	13049	26874428	54320782	12215	15831											
PIGS	94005	broad.mit.edu	37	17	26887149	26887149	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:26887149T>C	ENST00000308360.7	-	7	1112	c.737A>G	c.(736-738)gAc>gGc	p.D246G	PIGS_ENST00000465444.1_5'UTR|PIGS_ENST00000543734.1_Missense_Mutation_p.D185G|PIGS_ENST00000395346.2_Missense_Mutation_p.D238G	NM_033198.3	NP_149975.1	Q96S52	PIGS_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class S	246					attachment of GPI anchor to protein|C-terminal protein lipidation	GPI-anchor transamidase complex	protein binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Lung NSC(42;0.00431)					CCCCTCAATGTCCCAGTAGAC	0.552													17	28					0	0	1	0	0	C	26887149	T	C	26887149	3	2	81	1	0	0	0	0	1	0	0	0	11946	1667	58	3	954	3	PIGS	17	26887149	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	12721	26887149	54308061	12216	15832											
SPAG5	10615	broad.mit.edu	37	17	26919576	26919576	+	Missense_Mutation	SNP	C	C	T	rs141766452	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:26919576C>T	ENST00000321765.5	-	3	1018	c.686G>A	c.(685-687)cGt>cAt	p.R229H		NM_006461.3	NP_006452.3	Q96R06	SPAG5_HUMAN	sperm associated antigen 5	229					cell division|mitosis|phosphatidylinositol-mediated signaling|spindle organization	condensed chromosome kinetochore|cytoplasm|spindle pole	protein binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43	Lung NSC(42;0.00431)					TAAGTCCTCACGCACAGCCTC	0.493													28	57					0	0	1	0	0	T	26919576	C	T	26919576	3	4	81	1	0	0	0	0	1	0	0	0	15037	536	19	1	2983	1	SPAG5	17	26919576	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	32427	26919576	54275634	12217	15833											
SPAG5	10615	broad.mit.edu	37	17	26919664	26919664	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:26919664G>T	ENST00000321765.5	-	3	930	c.598C>A	c.(598-600)Cat>Aat	p.H200N		NM_006461.3	NP_006452.3	Q96R06	SPAG5_HUMAN	sperm associated antigen 5	200					cell division|mitosis|phosphatidylinositol-mediated signaling|spindle organization	condensed chromosome kinetochore|cytoplasm|spindle pole	protein binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43	Lung NSC(42;0.00431)					TCTAAGAGATGGGACGGAGAT	0.498													26	35					1.38267e-23	1.82264e-23	1	1	0	T	26919664	G	T	26919664	3	4	81	1	0	0	0	0	1	0	0	0	15037	1348	47	5	3071	5	SPAG5	17	26919664	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	88	26919664	54275546	12218	15834											
KIAA0100	9703	broad.mit.edu	37	17	26961728	26961728	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:26961728C>T	ENST00000528896.2	-	16	2951	c.2877G>A	c.(2875-2877)atG>atA	p.M959I	KIAA0100_ENST00000544884.1_Missense_Mutation_p.M816I|RP11-192H23.7_ENST00000577814.1_RNA|RP11-192H23.7_ENST00000583787.1_RNA|KIAA0100_ENST00000389003.3_Missense_Mutation_p.M816I	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	959						extracellular region				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					GTGCCCGGCGCATGGGTGTGT	0.527													10	100					0	0	1	0	0	T	26961728	C	T	26961728	3	4	81	1	0	0	0	0	1	0	0	0	8196	710	25	2	3926	2	KIAA0100	17	26961728	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	42064	26961728	54233482	12219	15835											
KIAA0100	9703	broad.mit.edu	37	17	26962484	26962484	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:26962484C>T	ENST00000528896.2	-	16	2195	c.2121G>A	c.(2119-2121)gaG>gaA	p.E707E	KIAA0100_ENST00000544884.1_Silent_p.E564E|RP11-192H23.7_ENST00000577814.1_RNA|KIAA0100_ENST00000389003.3_Silent_p.E564E	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	707						extracellular region				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					TTCCTGAAGTCTCTAGTGCAA	0.537													25	42					0	0	1	0	0	T	26962484	C	T	26962484	2	4	81	1	0	0	0	0	0	0	0	1	8196	912	32	2		2	KIAA0100	17	26962484	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	756	26962484	54232726	12220	15836											
SUPT6H	6830	broad.mit.edu	37	17	27002475	27002475	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:27002475C>T	ENST00000314616.6	+	6	878	c.595C>T	c.(595-597)Cgg>Tgg	p.R199W	SUPT6H_ENST00000347486.4_Missense_Mutation_p.R199W	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	199	Asp/Glu-rich.				chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					ACCTAAGTGGCGGAAAAAGCT	0.517													21	49					0	0	1	0	0	T	27002475	C	T	27002475	3	4	81	1	0	0	0	0	1	0	0	0	15456	759	27	1	613	1	SUPT6H	17	27002475	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	39991	27002475	54192735	12221	15837											
SUPT6H	6830	broad.mit.edu	37	17	27010091	27010091	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:27010091C>T	ENST00000314616.6	+	15	2142	c.1859C>T	c.(1858-1860)cCc>cTc	p.P620L	SUPT6H_ENST00000347486.4_Missense_Mutation_p.P620L	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	620					chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					AATATAACCCCCACCAAGAAA	0.532													5	9					0	0	1	0	0	T	27010091	C	T	27010091	3	4	81	1	0	0	0	0	1	0	0	0	15456	623	22	2	1913	2	SUPT6H	17	27010091	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	7616	27010091	54185119	12222	15838											
SUPT6H	6830	broad.mit.edu	37	17	27014145	27014145	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:27014145G>A	ENST00000314616.6	+	22	3023	c.2740G>A	c.(2740-2742)Gtc>Atc	p.V914I	SUPT6H_ENST00000347486.4_Missense_Mutation_p.V914I	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	914					chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					GAGACAGGCCGTCTCCCTGGC	0.542													55	72					0	0	1	0	0	A	27014145	G	A	27014145	3	1	81	1	0	0	0	0	1	0	0	0	15456	1145	40	1	2822	1	SUPT6H	17	27014145	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	4054	27014145	54181065	12223	15839											
SUPT6H	6830	broad.mit.edu	37	17	27020846	27020846	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:27020846C>T	ENST00000314616.6	+	28	4049	c.3766C>T	c.(3766-3768)Cga>Tga	p.R1256*	SUPT6H_ENST00000347486.4_Nonsense_Mutation_p.R1256*	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	1256	S1 motif.				chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					GCCAGAAGAACGAGTGAAGGT	0.512													16	25					0	0	1	0	0	T	27020846	C	T	27020846	4	4	81	1	0	0	0	0	0	1	0	0	15456	528	19	1	3872	1	SUPT6H	17	27020846	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	6701	27020846	54174364	12224	15840											
SUPT6H	6830	broad.mit.edu	37	17	27027530	27027530	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:27027530C>T	ENST00000314616.6	+	35	5089	c.4806C>T	c.(4804-4806)caC>caT	p.H1602H	SUPT6H_ENST00000347486.4_Splice_Site_p.H1602H	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	1602					chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					GTGCTTACCACGTATGTGGCT	0.642													6	76					0	0	1	0	0	T	27027530	C	T	27027530	5	4	81	1	0	0	0	0	0	0	1	0	15456	550	19	1	4940	1	SUPT6H	17	27027530	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	6684	27027530	54167680	12225	15841											
PROCA1	147011	broad.mit.edu	37	17	27030736	27030737	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:27030736_27030737insT	ENST00000301039.2	-	4	1043_1044	c.850_851insA	c.(850-852)cggfs	p.R284fs	PROCA1_ENST00000439862.3_Frame_Shift_Ins_p.R286fs|PROCA1_ENST00000581289.1_3'UTR	NM_152465.1	NP_689678.1	Q8NCQ7	PRCA1_HUMAN	protein interacting with cyclin A1	312					lipid catabolic process		calcium ion binding|phospholipase A2 activity	p.R284W(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(4)|ovary(1)|urinary_tract(1)	16	Lung NSC(42;0.00431)					TCCCTGCCCCCGGCCATTGTAA	0.569													17	107	---	---	---	---						T	27030737	-	T	27030736	7	5	81	1	0	1	1	0	0	0	0	0	12598	652	23	0	163	0	PROCA1	17	27030736	Frame_Shift_Ins	INS	-	TCGA-DU-6392-01A-11D-1705-08	3206	27030736	54164474	12226	15842											
PROCA1	147011	broad.mit.edu	37	17	27031790	27031790	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:27031790C>T	ENST00000301039.2	-	2	356	c.163G>A	c.(163-165)Gcc>Acc	p.A55T	PROCA1_ENST00000579650.1_5'UTR|PROCA1_ENST00000439862.3_Missense_Mutation_p.A57T|PROCA1_ENST00000581289.1_Intron	NM_152465.1	NP_689678.1	Q8NCQ7	PRCA1_HUMAN	protein interacting with cyclin A1	83					lipid catabolic process		calcium ion binding|phospholipase A2 activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(4)|ovary(1)|urinary_tract(1)	16	Lung NSC(42;0.00431)					CAGTCAGAGGCGAAAGGGTAG	0.592													21	30					0	0	1	0	0	T	27031790	C	T	27031790	3	4	81	1	0	0	0	0	1	0	0	0	12598	768	27	1	859	1	PROCA1	17	27031790	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1054	27031790	54163420	12227	15843											
RAB34	83871	broad.mit.edu	37	17	27043037	27043037	+	Silent	SNP	C	C	T	rs142412914	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:27043037C>T	ENST00000395245.3	-	3	812	c.186G>A	c.(184-186)tcG>tcA	p.S62S	RAB34_ENST00000415040.2_Intron|RAB34_ENST00000453384.3_Silent_p.S120S|RAB34_ENST00000395243.3_Silent_p.S62S|RAB34_ENST00000395242.2_Silent_p.S63S|RAB34_ENST00000447716.1_Silent_p.S119S|RAB34_ENST00000450529.1_Silent_p.S62S|RAB34_ENST00000436730.3_Silent_p.S62S|RAB34_ENST00000301043.6_Silent_p.S62S	NM_001256281.1|NM_031934.5	NP_001243210.1|NP_114140.4	Q9BZG1	RAB34_HUMAN	RAB34, member RAS oncogene family	62					protein transport|small GTPase mediated signal transduction	Golgi apparatus	GTP binding			endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|skin(2)	14	Lung NSC(42;0.00431)					TCTTCCCCACCGACAGGTCCC	0.592													10	32					0	0	1	0	0	T	27043037	C	T	27043037	2	4	81	1	0	0	0	0	0	0	0	1	12976	639	23	1		1	RAB34	17	27043037	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	11247	27043037	54152173	12228	15844											
NEK8	284086	broad.mit.edu	37	17	27061108	27061108	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:27061108G>A	ENST00000268766.6	+	2	189	c.155G>A	c.(154-156)tGc>tAc	p.C52Y	AC010761.6_ENST00000584779.1_RNA|NEK8_ENST00000593261.1_3'UTR	NM_178170.2	NP_835464.1	Q86SG6	NEK8_HUMAN	NIMA-related kinase 8	52	Protein kinase.					cytoplasm|primary cilium	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Lung NSC(42;0.0158)					CAGAATGAGTGCCAGGTCCTC	0.527													14	36					0	0	1	0	0	A	27061108	G	A	27061108	3	1	81	1	0	0	0	0	1	0	0	0	10377	1319	46	2	161	2	NEK8	17	27061108	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	18071	27061108	54134102	12229	15845											
NEK8	284086	broad.mit.edu	37	17	27061884	27061884	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:27061884G>A	ENST00000268766.6	+	3	382	c.348G>A	c.(346-348)ctG>ctA	p.L116L	AC010761.6_ENST00000584779.1_RNA|NEK8_ENST00000593261.1_3'UTR	NM_178170.2	NP_835464.1	Q86SG6	NEK8_HUMAN	NIMA-related kinase 8	116	Protein kinase.					cytoplasm|primary cilium	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Lung NSC(42;0.0158)					TGCTTGCACTGCATCATGTGC	0.552													44	78					0	0	1	0	0	A	27061884	G	A	27061884	2	1	81	1	0	0	0	0	0	0	0	1	10377	1306	46	2		2	NEK8	17	27061884	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	776	27061884	54133326	12230	15846											
NEK8	284086	broad.mit.edu	37	17	27064985	27064985	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:27064985C>T	ENST00000268766.6	+	7	1072	c.1038C>T	c.(1036-1038)ggC>ggT	p.G346G	AC010761.6_ENST00000584779.1_RNA	NM_178170.2	NP_835464.1	Q86SG6	NEK8_HUMAN	NIMA-related kinase 8	346						cytoplasm|primary cilium	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Lung NSC(42;0.0158)					AGAAAGCCGGCGTCACGCGCT	0.682													10	25					0	0	1	0	0	T	27064985	C	T	27064985	2	4	81	1	0	0	0	0	0	0	0	1	10377	755	27	1		1	NEK8	17	27064985	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3101	27064985	54130225	12231	15847											
NEK8	284086	broad.mit.edu	37	17	27068168	27068168	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:27068168G>A	ENST00000268766.6	+	13	1839	c.1805G>A	c.(1804-1806)cGg>cAg	p.R602Q	AC010761.6_ENST00000584779.1_RNA	NM_178170.2	NP_835464.1	Q86SG6	NEK8_HUMAN	NIMA-related kinase 8	602						cytoplasm|primary cilium	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Lung NSC(42;0.0158)					CGAGGCAGTCGGGCACCCTGT	0.577													16	42					0	0	1	0	0	A	27068168	G	A	27068168	3	1	81	1	0	0	0	0	1	0	0	0	10377	1116	39	1	1855	1	NEK8	17	27068168	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	3183	27068168	54127042	12232	15848											
TRAF4	9618	broad.mit.edu	37	17	27075049	27075049	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:27075049C>A	ENST00000262395.5	+	4	444	c.315C>A	c.(313-315)acC>acA	p.T105T	TRAF4_ENST00000444415.3_Silent_p.T105T|TRAF4_ENST00000262396.6_Silent_p.T105T	NM_004295.3	NP_004286.2	Q9BUZ4	TRAF4_HUMAN	TNF receptor-associated factor 4	105					apoptosis|positive regulation of JNK cascade|positive regulation of protein homodimerization activity|positive regulation of protein kinase activity|regulation of apoptosis|signal transduction	cytoskeleton|nucleus|perinuclear region of cytoplasm|tight junction	DNA binding|ubiquitin-protein ligase activity|WW domain binding|zinc ion binding			endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	10	Lung NSC(42;0.01)		Epithelial(11;3.26e-05)|all cancers(11;0.000272)|OV - Ovarian serous cystadenocarcinoma(11;0.235)			ACCTGAATACCTGCAGCTTCA	0.592													4	40					0.00024832	0.000269806	1	1	0	A	27075049	C	A	27075049	2	1	81	1	0	0	0	0	0	0	0	1	16504	668	24	4		4	TRAF4	17	27075049	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	6881	27075049	54120161	12233	15849											
TRAF4	9618	broad.mit.edu	37	17	27076339	27076339	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:27076339T>C	ENST00000262395.5	+	7	1286	c.1157T>C	c.(1156-1158)gTc>gCc	p.V386A	TRAF4_ENST00000444415.3_Splice_Site|TRAF4_ENST00000262396.6_Intron	NM_004295.3	NP_004286.2	Q9BUZ4	TRAF4_HUMAN	TNF receptor-associated factor 4	386	MATH.				apoptosis|positive regulation of JNK cascade|positive regulation of protein homodimerization activity|positive regulation of protein kinase activity|regulation of apoptosis|signal transduction	cytoskeleton|nucleus|perinuclear region of cytoplasm|tight junction	DNA binding|ubiquitin-protein ligase activity|WW domain binding|zinc ion binding			endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	10	Lung NSC(42;0.01)		Epithelial(11;3.26e-05)|all cancers(11;0.000272)|OV - Ovarian serous cystadenocarcinoma(11;0.235)			GCCCGCCGTGTCACCTTCTCC	0.567													14	23					0	0	1	0	0	C	27076339	T	C	27076339	3	2	81	1	0	0	0	0	1	0	0	0	16504	1667	58	3	1183	3	TRAF4	17	27076339	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	1290	27076339	54118871	12234	15850											
PHF12	57649	broad.mit.edu	37	17	27251052	27251052	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:27251052G>A	ENST00000577226.1	-	4	936	c.590C>T	c.(589-591)gCg>gTg	p.A197V	PHF12_ENST00000582655.1_5'UTR|PHF12_ENST00000268756.3_Missense_Mutation_p.A197V|PHF12_ENST00000332830.4_Missense_Mutation_p.A197V			Q96QT6	PHF12_HUMAN	PHD finger protein 12	197	Interaction with SIN3A.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01)		Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05)			GTCTGGCTCCGCTGCTACTGG	0.582													16	14					0	0	1	0	0	A	27251052	G	A	27251052	3	1	81	1	0	0	0	0	1	0	0	0	11871	1087	38	1	2498	1	PHF12	17	27251052	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	174713	27251052	53944158	12235	15851											
SEZ6	124925	broad.mit.edu	37	17	27284489	27284489	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:27284489C>T	ENST00000317338.12	-	12	2799	c.2371G>A	c.(2371-2373)Gtg>Atg	p.V791M	PIPOX_ENST00000583215.1_Intron|SEZ6_ENST00000335960.6_Intron|SEZ6_ENST00000442608.3_Missense_Mutation_p.V791M|SEZ6_ENST00000360295.9_Missense_Mutation_p.V791M			Q53EL9	SEZ6_HUMAN	seizure related 6 homolog (mouse)	791	Sushi 4.					integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	29	Lung NSC(42;0.0137)		Epithelial(11;4.73e-06)|all cancers(11;2.91e-05)|BRCA - Breast invasive adenocarcinoma(11;8.06e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.111)			GTGGCCCCCACGGGAAACTTG	0.597													8	54					0	0	1	0	0	T	27284489	C	T	27284489	3	4	81	1	0	0	0	0	1	0	0	0	14196	536	19	1	650	1	SEZ6	17	27284489	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	33437	27284489	53910721	12236	15852											
SEZ6	124925	broad.mit.edu	37	17	27285122	27285122	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:27285122C>A	ENST00000317338.12	-	11	2573	c.2145G>T	c.(2143-2145)gaG>gaT	p.E715D	PIPOX_ENST00000583215.1_Intron|SEZ6_ENST00000335960.6_Intron|SEZ6_ENST00000442608.3_Missense_Mutation_p.E715D|SEZ6_ENST00000360295.9_Missense_Mutation_p.E715D			Q53EL9	SEZ6_HUMAN	seizure related 6 homolog (mouse)	715	Sushi 3.					integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	29	Lung NSC(42;0.0137)		Epithelial(11;4.73e-06)|all cancers(11;2.91e-05)|BRCA - Breast invasive adenocarcinoma(11;8.06e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.111)			CATTGGGGATCTCAGGCAGCT	0.622													16	58					2.4624e-09	2.97042e-09	1	1	0	A	27285122	C	A	27285122	3	1	81	1	0	0	0	0	1	0	0	0	14196	912	32	4	880	4	SEZ6	17	27285122	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	633	27285122	53910088	12237	15853											
PIPOX	51268	broad.mit.edu	37	17	27382238	27382238	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:27382238C>T	ENST00000323372.4	+	6	1291	c.965C>T	c.(964-966)aCg>aTg	p.T322M	PIPOX_ENST00000583215.1_3'UTR	NM_016518.2	NP_057602.2	Q9P0Z9	SOX_HUMAN	pipecolic acid oxidase	322					tetrahydrofolate metabolic process	peroxisome	L-pipecolate oxidase activity|sarcosine oxidase activity			endometrium(2)|large_intestine(4)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	10	Lung NSC(42;0.015)		Epithelial(11;9.87e-06)|BRCA - Breast invasive adenocarcinoma(11;3.92e-05)|all cancers(11;5.59e-05)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)		Glycine(DB00145)	TGCATGTACACGGTAAGGGGT	0.572													8	96					0	0	1	0	0	T	27382238	C	T	27382238	5	4	81	1	0	0	0	0	0	0	1	0	11991	550	19	1	987	1	PIPOX	17	27382238	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	97116	27382238	53812972	12238	15854											
MYO18A	399687	broad.mit.edu	37	17	27413970	27413970	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:27413970C>T	ENST00000527372.1	-	38	5876	c.5696G>A	c.(5695-5697)cGc>cAc	p.R1899H	MYO18A_ENST00000533112.1_Missense_Mutation_p.R1862H|MYO18A_ENST00000531253.1_Missense_Mutation_p.R1899H|TIAF1_ENST00000408971.2_5'UTR|MYO18A_ENST00000529578.1_5'UTR|MYO18A_ENST00000354329.4_Missense_Mutation_p.R1899H	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	1899					anti-apoptosis|DNA metabolic process	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity			NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			GTGCTTCTTGCGGCTCGCCTC	0.627													3	3					0	0	1	0	0	T	27413970	C	T	27413970	3	4	81	1	0	0	0	0	1	0	0	0	10113	768	27	1	488	1	MYO18A	17	27413970	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	31732	27413970	53781240	12239	15855											
ABHD15	116236	broad.mit.edu	37	17	27893163	27893163	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:27893163G>A	ENST00000307201.4	-	1	992	c.822C>T	c.(820-822)gcC>gcT	p.A274A	RP11-68I3.2_ENST00000581474.1_RNA	NM_198147.2	NP_937790.2	Q6UXT9	ABH15_HUMAN	abhydrolase domain containing 15	274						extracellular region	carboxylesterase activity			breast(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	10						AGGGCAGGCCGGCCTCGAACC	0.667													7	18					0	0	1	0	0	A	27893163	G	A	27893163	2	1	81	1	0	0	0	0	0	0	0	1	81	1103	39	1		1	ABHD15	17	27893163	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	479193	27893163	53302047	12240	15856											
GIT1	28964	broad.mit.edu	37	17	27903334	27903334	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:27903334C>A	ENST00000225394.3	-	14	1763	c.1515G>T	c.(1513-1515)caG>caT	p.Q505H	GIT1_ENST00000581348.1_Missense_Mutation_p.Q514H|RP11-68I3.2_ENST00000581474.1_RNA|GIT1_ENST00000394869.3_Missense_Mutation_p.Q514H|GIT1_ENST00000579937.1_Missense_Mutation_p.Q505H	NM_014030.3	NP_054749.2	Q9Y2X7	GIT1_HUMAN	G protein-coupled receptor kinase interacting ArfGAP 1	505					regulation of ARF GTPase activity|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|focal adhesion	ARF GTPase activator activity|protein binding|zinc ion binding			large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9				READ - Rectum adenocarcinoma(3;0.0419)|Colorectal(3;0.069)		TGGAAAAGGCCTGGCGATCCC	0.667													8	118					0.0381472	0.0389402	1	1	0	A	27903334	C	A	27903334	3	1	81	1	0	0	0	0	1	0	0	0	6438	680	24	4	798	4	GIT1	17	27903334	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	10171	27903334	53291876	12241	15857											
ANKRD13B	124930	broad.mit.edu	37	17	27934865	27934865	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:27934865G>A	ENST00000394859.3	+	2	374	c.220G>A	c.(220-222)Gtg>Atg	p.V74M	RP11-68I3.2_ENST00000581474.1_RNA	NM_152345.4	NP_689558.4	Q86YJ7	AN13B_HUMAN	ankyrin repeat domain 13B	74										cervix(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2)	16						CGGCGCAGACGTGGGCAGGGA	0.697													10	25					0	0	1	0	0	A	27934865	G	A	27934865	3	1	81	1	0	0	0	0	1	0	0	0	638	1145	40	1	226	1	ANKRD13B	17	27934865	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	31531	27934865	53260345	12242	15858											
ANKRD13B	124930	broad.mit.edu	37	17	27939446	27939446	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:27939446G>A	ENST00000394859.3	+	12	1439	c.1285G>A	c.(1285-1287)Gcc>Acc	p.A429T	RP11-68I3.2_ENST00000581474.1_RNA	NM_152345.4	NP_689558.4	Q86YJ7	AN13B_HUMAN	ankyrin repeat domain 13B	429										cervix(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2)	16						CATCCTCAACGCCCGCATCAC	0.637													4	8					0	0	1	0	0	A	27939446	G	A	27939446	3	1	81	1	0	0	0	0	1	0	0	0	638	1087	38	1	1331	1	ANKRD13B	17	27939446	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	4581	27939446	53255764	12243	15859											
CORO6	84940	broad.mit.edu	37	17	27946150	27946150	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:27946150G>A	ENST00000345068.5	-	4	592	c.379C>T	c.(379-381)Ctt>Ttt	p.L127F	CORO6_ENST00000388767.3_Missense_Mutation_p.L127F|RP11-68I3.2_ENST00000581474.1_RNA|CORO6_ENST00000584969.1_Missense_Mutation_p.L127F|CORO6_ENST00000580212.1_Missense_Mutation_p.L127F|CORO6_ENST00000445145.2_Missense_Mutation_p.L127F|CORO6_ENST00000577909.1_Intron			Q6QEF8	CORO6_HUMAN	coronin 6	127					actin cytoskeleton organization	actin cytoskeleton	actin filament binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(2)	14						TGGCCCTCAAGTGTGATGATA	0.567													6	13					0	0	1	0	0	A	27946150	G	A	27946150	3	1	81	1	0	0	0	0	1	0	0	0	3781	1029	36	2	1071	2	CORO6	17	27946150	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	6704	27946150	53249060	12244	15860											
SSH2	85464	broad.mit.edu	37	17	27959346	27959346	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:27959346C>A	ENST00000269033.3	-	15	2936	c.2785G>T	c.(2785-2787)Gaa>Taa	p.E929*	RP11-68I3.2_ENST00000581474.1_RNA|SSH2_ENST00000540801.1_Nonsense_Mutation_p.E956*	NM_001282129.1|NM_033389.2	NP_001269058.1|NP_203747.2	Q76I76	SSH2_HUMAN	slingshot protein phosphatase 2	929					actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity		SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TTGCTCATTTCTGGTTCCTTG	0.488													77	129					2.40982e-25	3.18799e-25	1	1	0	A	27959346	C	A	27959346	4	1	81	1	0	0	0	0	0	1	0	0	15241	922	32	4	1490	4	SSH2	17	27959346	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	13196	27959346	53235864	12245	15861											
SSH2	85464	broad.mit.edu	37	17	27963207	27963208	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:27963207_27963208insA	ENST00000269033.3	-	14	2110_2111	c.1959_1960insT	c.(1957-1962)tttagtfs	p.S654fs	RP11-68I3.2_ENST00000581474.1_RNA|SSH2_ENST00000540801.1_Frame_Shift_Ins_p.S681fs	NM_001282129.1|NM_033389.2	NP_001269058.1|NP_203747.2	Q76I76	SSH2_HUMAN	slingshot protein phosphatase 2	654					actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity		SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TCTAGGGCACTAAAAAAGTCAA	0.505													30	83	---	---	---	---						A	27963208	-	A	27963207	7	5	81	1	0	1	1	0	0	0	0	0	15241	1522	53	0	2319	0	SSH2	17	27963207	Frame_Shift_Ins	INS	-	TCGA-DU-6392-01A-11D-1705-08	3861	27963207	53232003	12246	15862											
EFCAB5	374786	broad.mit.edu	37	17	28380515	28380515	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:28380515G>T	ENST00000394835.3	+	10	1735	c.1543G>T	c.(1543-1545)Gaa>Taa	p.E515*	EFCAB5_ENST00000541045.1_Nonsense_Mutation_p.E172*|EFCAB5_ENST00000378738.3_Nonsense_Mutation_p.E515*|EFCAB5_ENST00000536908.2_Nonsense_Mutation_p.E459*|EFCAB5_ENST00000320856.5_Nonsense_Mutation_p.E515*|EFCAB5_ENST00000394832.2_Nonsense_Mutation_p.E515*	NM_198529.3	NP_940931	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5	515							calcium ion binding			breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						AGTAACTGCAGAACAAGGACC	0.398													17	25					1.33834e-09	1.61909e-09	1	1	0	T	28380515	G	T	28380515	4	4	81	1	0	0	0	0	0	1	0	0	4964	943	33	4	1581	4	EFCAB5	17	28380515	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	417308	28380515	52814695	12247	15863											
EFCAB5	374786	broad.mit.edu	37	17	28419932	28419932	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:28419932G>T	ENST00000394835.3	+	22	4491	c.4299G>T	c.(4297-4299)caG>caT	p.Q1433H	EFCAB5_ENST00000320856.5_Missense_Mutation_p.Q1309H|RP11-1148O4.2_ENST00000582938.1_RNA|EFCAB5_ENST00000394832.2_Intron	NM_198529.3	NP_940931	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5	1433							calcium ion binding			breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						TTAATGTACAGCTTATTGATG	0.313													12	82					1.52009e-12	1.903e-12	1	1	0	T	28419932	G	T	28419932	3	4	81	1	0	0	0	0	1	0	0	0	4964	962	34	4	4552	4	EFCAB5	17	28419932	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	39417	28419932	52775278	12248	15864											
SLC6A4	6532	broad.mit.edu	37	17	28530324	28530324	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:28530324G>A	ENST00000401766.2	-	13	2196	c.1684C>T	c.(1684-1686)Caa>Taa	p.Q562*	SLC6A4_ENST00000261707.3_Nonsense_Mutation_p.Q562*			P31645	SC6A4_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 4	562					response to toxin|serotonin uptake|thalamus development	cytosol|endomembrane system|endosome membrane|membrane raft	actin filament binding|Rab GTPase binding|serotonin transmembrane transporter activity|serotonin:sodium symporter activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(4)	25					Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Doxepin(DB01142)|Duloxetine(DB00476)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Minaprine(DB00805)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phentermine(DB00191)|Protriptyline(DB00344)|Sertraline(DB01104)|Sibutramine(DB01105)|Tegaserod(DB01079)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Zimelidine(DB04832)	AGTCGTAGTTGTGGCGGGCTC	0.363													37	73					0	0	1	0	0	A	28530324	G	A	28530324	4	1	81	1	0	0	0	0	0	1	0	0	14741	1386	48	2	216	2	SLC6A4	17	28530324	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	110392	28530324	52664886	12249	15865											
SLC6A4	6532	broad.mit.edu	37	17	28537538	28537538	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:28537538T>C	ENST00000401766.2	-	10	1956	c.1444A>G	c.(1444-1446)Act>Gct	p.T482A	SLC6A4_ENST00000261707.3_Missense_Mutation_p.T482A			P31645	SC6A4_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 4	482					response to toxin|serotonin uptake|thalamus development	cytosol|endomembrane system|endosome membrane|membrane raft	actin filament binding|Rab GTPase binding|serotonin transmembrane transporter activity|serotonin:sodium symporter activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(4)	25					Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Doxepin(DB01142)|Duloxetine(DB00476)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Minaprine(DB00805)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phentermine(DB00191)|Protriptyline(DB00344)|Sertraline(DB01104)|Sibutramine(DB01105)|Tegaserod(DB01079)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Zimelidine(DB04832)	CTCACAAAAGTCAGGGTGACC	0.592													5	57					0	0	1	0	0	C	28537538	T	C	28537538	3	2	81	1	0	0	0	0	1	0	0	0	14741	1667	58	3	468	3	SLC6A4	17	28537538	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	7214	28537538	52657672	12250	15866											
SLC6A4	6532	broad.mit.edu	37	17	28544283	28544283	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:28544283C>T	ENST00000401766.2	-	5	1250	c.738G>A	c.(736-738)caG>caA	p.Q246Q	SLC6A4_ENST00000261707.3_Silent_p.Q246Q			P31645	SC6A4_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 4	246					response to toxin|serotonin uptake|thalamus development	cytosol|endomembrane system|endosome membrane|membrane raft	actin filament binding|Rab GTPase binding|serotonin transmembrane transporter activity|serotonin:sodium symporter activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(4)	25					Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Doxepin(DB01142)|Duloxetine(DB00476)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Minaprine(DB00805)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phentermine(DB00191)|Protriptyline(DB00344)|Sertraline(DB01104)|Sibutramine(DB01105)|Tegaserod(DB01079)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Zimelidine(DB04832)	CCCCCAGGTCCTGGAGCCCCT	0.587													7	85					0	0	1	0	0	T	28544283	C	T	28544283	2	4	81	1	0	0	0	0	0	0	0	1	14741	680	24	2		2	SLC6A4	17	28544283	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	6745	28544283	52650927	12251	15867											
BLMH	642	broad.mit.edu	37	17	28601165	28601165	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:28601165G>T	ENST00000261714.6	-	7	870	c.696C>A	c.(694-696)acC>acA	p.T232T	BLMH_ENST00000582669.1_5'UTR|BLMH_ENST00000394819.3_Silent_p.T145T	NM_000386.3	NP_000377.1	Q13867	BLMH_HUMAN	bleomycin hydrolase	232					proteolysis	cytoplasm|nucleus	aminopeptidase activity|carboxypeptidase activity|cysteine-type endopeptidase activity|protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|stomach(1)	13						GATATTCCCAGGTGAATGTCT	0.438													7	42					2.0095e-06	2.30238e-06	1	1	0	T	28601165	G	T	28601165	2	4	81	1	0	0	0	0	0	0	0	1	1445	987	35	4		4	BLMH	17	28601165	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	56882	28601165	52594045	12252	15868											
TMIGD1	388364	broad.mit.edu	37	17	28656417	28656417	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:28656417C>A	ENST00000328886.4	-	3	285	c.213G>T	c.(211-213)gaG>gaT	p.E71D	TMIGD1_ENST00000538566.2_Missense_Mutation_p.E71D	NM_206832.1	NP_996663.1	Q6UXZ0	TMIG1_HUMAN	transmembrane and immunoglobulin domain containing 1	71	Ig-like C2-type 1.					integral to membrane				breast(1)|kidney(3)|large_intestine(1)|lung(5)|skin(2)	12						CCACTCTCCCCTCCTCTCGGT	0.463													15	58					3.45872e-05	3.85959e-05	1	1	0	A	28656417	C	A	28656417	3	1	81	1	0	0	0	0	1	0	0	0	16290	680	24	4	595	4	TMIGD1	17	28656417	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	55252	28656417	52538793	12253	15869											
CPD	1362	broad.mit.edu	37	17	28750624	28750624	+	Silent	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:28750624A>C	ENST00000225719.4	+	6	1834	c.1758A>C	c.(1756-1758)ggA>ggC	p.G586G	CPD_ENST00000543464.2_Silent_p.G339G	NM_001304.4	NP_001295.2	O75976	CBPD_HUMAN	carboxypeptidase D	586	Carboxypeptidase-like 2.				proteolysis	integral to membrane	metallocarboxypeptidase activity|serine-type carboxypeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(13)|skin(5)|stomach(1)|urinary_tract(1)	36						AGAACTTTGGAACAGACCCTG	0.388													18	53					0	0	1	0	0	C	28750624	A	C	28750624	2	2	81	1	0	0	0	0	0	0	0	1	3821	233	9	5		5	CPD	17	28750624	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	94207	28750624	52444586	12254	15870											
ATAD5	79915	broad.mit.edu	37	17	29161853	29161853	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:29161853G>A	ENST00000321990.4	+	2	1132	c.754G>A	c.(754-756)Gta>Ata	p.V252I	CTD-2349P21.11_ENST00000580873.1_RNA	NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	252					response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				TAGAGATAACGTAACTGAAGC	0.348													27	71					0	0	1	0	0	A	29161853	G	A	29161853	3	1	81	1	0	0	0	0	1	0	0	0	1075	1145	40	1	760	1	ATAD5	17	29161853	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	411229	29161853	52033357	12255	15871											
ATAD5	79915	broad.mit.edu	37	17	29162553	29162553	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:29162553C>T	ENST00000321990.4	+	2	1832	c.1454C>T	c.(1453-1455)aCa>aTa	p.T485I	CTD-2349P21.11_ENST00000580873.1_RNA	NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	485					response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				AATAAGAAAACATTAGATACT	0.308													16	39					0	0	1	0	0	T	29162553	C	T	29162553	3	4	81	1	0	0	0	0	1	0	0	0	1075	478	17	2	1460	2	ATAD5	17	29162553	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	700	29162553	52032657	12256	15872											
ATAD5	79915	broad.mit.edu	37	17	29184017	29184017	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:29184017A>T	ENST00000321990.4	+	8	3058	c.2680A>T	c.(2680-2682)Act>Tct	p.T894S	CTD-2349P21.11_ENST00000580873.1_RNA	NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	894					response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				TCCTCTCTTAACTAAATTTAA	0.308													6	38					0	0	1	0	0	T	29184017	A	T	29184017	3	4	81	1	0	0	0	0	1	0	0	0	1075	43	2	5	2710	5	ATAD5	17	29184017	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	21464	29184017	52011193	12257	15873											
ATAD5	79915	broad.mit.edu	37	17	29185179	29185179	+	Splice_Site	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:29185179T>C	ENST00000321990.4	+	9	3172	c.2794T>C	c.(2794-2796)Ttc>Ctc	p.F932L	CTD-2349P21.11_ENST00000580873.1_RNA	NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	932					response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				TTTATTGCAGTTCATGAGGAC	0.313													24	37					0	0	1	0	0	C	29185179	T	C	29185179	5	2	81	1	0	0	0	0	0	0	1	0	1075	1739	60	3	2828	3	ATAD5	17	29185179	Splice_Site	SNP	T	TCGA-DU-6392-01A-11D-1705-08	1162	29185179	52010031	12258	15874											
ATAD5	79915	broad.mit.edu	37	17	29185232	29185232	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:29185232G>T	ENST00000321990.4	+	9	3225	c.2847G>T	c.(2845-2847)gaG>gaT	p.E949D	CTD-2349P21.11_ENST00000580873.1_RNA	NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	949					response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				TTTTGCTTGAGGAAATTAGGT	0.323													31	42					8.88839e-20	1.15844e-19	1	1	0	T	29185232	G	T	29185232	3	4	81	1	0	0	0	0	1	0	0	0	1075	991	35	4	2881	4	ATAD5	17	29185232	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	53	29185232	52009978	12259	15875											
ATAD5	79915	broad.mit.edu	37	17	29221637	29221637	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:29221637C>T	ENST00000321990.4	+	22	5731	c.5353C>T	c.(5353-5355)Ctc>Ttc	p.L1785F		NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	1785					response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				TCGATCTCTTCTCTATGTGGG	0.338													23	35					0	0	1	0	0	T	29221637	C	T	29221637	3	4	81	1	0	0	0	0	1	0	0	0	1075	913	32	2	5439	2	ATAD5	17	29221637	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	36405	29221637	51973573	12260	15876											
ADAP2	55803	broad.mit.edu	37	17	29283406	29283406	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:29283406C>A	ENST00000330889.3	+	10	1365	c.1030C>A	c.(1030-1032)Ccc>Acc	p.P344T	ADAP2_ENST00000580525.1_Missense_Mutation_p.P350T|AC091177.1_ENST00000442757.1_RNA	NM_018404.2	NP_060874.1	Q9NPF8	ADAP2_HUMAN	ArfGAP with dual PH domains 2	344	PH 2.				heart development|regulation of ARF GTPase activity	mitochondrial envelope|plasma membrane	ARF GTPase activator activity|inositol 1,3,4,5 tetrakisphosphate binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding, bridging|zinc ion binding	p.?(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						CCTCACTTGCCCCAGTGAGAA	0.562													10	33					3.86212e-05	4.27865e-05	1	1	0	A	29283406	C	A	29283406	3	1	81	1	0	0	0	0	1	0	0	0	279	623	22	5	1068	5	ADAP2	17	29283406	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	61769	29283406	51911804	12261	15877											
RNF135	84282	broad.mit.edu	37	17	29324279	29324279	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:29324279G>A	ENST00000535306.2	+	5	778	c.764G>A	c.(763-765)cGt>cAt	p.R255H	RNF135_ENST00000443677.2_Missense_Mutation_p.R131H|RNF135_ENST00000328381.5_Silent_p.P233P|RNF135_ENST00000324689.4_Missense_Mutation_p.R179H	NM_001184992.1	NP_001171921.1	Q8IUD6	RN135_HUMAN	ring finger protein 135	0	B30.2/SPRY.				innate immune response|negative regulation of type I interferon production|positive regulation of interferon-beta production|regulation of innate immune response	cytosol	protein binding|ribonucleoprotein binding|ubiquitin-protein ligase activity|zinc ion binding	p.?(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(1)|skin(2)|urinary_tract(1)	10		all_cancers(10;8.65e-08)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Myeloproliferative disorder(56;0.0255)				TGGAAGCCCCGTCTTCCTCCT	0.478													18	35					0	0	1	0	0	A	29324279	G	A	29324279	3	1	81	1	0	0	0	0	1	0	0	0	13492	1145	40	1	782	1	RNF135	17	29324279	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	40873	29324279	51870931	12262	15878											
RNF135	84282	broad.mit.edu	37	17	29325990	29325990	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:29325990G>T	ENST00000328381.5	+	5	1953	c.1080G>T	c.(1078-1080)tgG>tgT	p.W360C	RNF135_ENST00000443677.2_3'UTR|RNF135_ENST00000535306.2_3'UTR|RNF135_ENST00000324689.4_3'UTR	NM_032322.3	NP_115698.3	Q8IUD6	RN135_HUMAN	ring finger protein 135	360	B30.2/SPRY.				innate immune response|negative regulation of type I interferon production|positive regulation of interferon-beta production|regulation of innate immune response	cytosol	protein binding|ribonucleoprotein binding|ubiquitin-protein ligase activity|zinc ion binding	p.?(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(1)|skin(2)|urinary_tract(1)	10		all_cancers(10;8.65e-08)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Myeloproliferative disorder(56;0.0255)				TCTCTGCATGGCACATGGTCA	0.562													18	37					1.40151e-16	1.80007e-16	1	1	0	T	29325990	G	T	29325990	3	4	81	1	0	0	0	0	1	0	0	0	13492	1212	42	5	1167	5	RNF135	17	29325990	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1711	29325990	51869220	12263	15879											
NF1	4763	broad.mit.edu	37	17	29508478	29508478	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:29508478C>T	ENST00000358273.4	+	6	1008	c.625C>T	c.(625-627)Cag>Tag	p.Q209*	NF1_ENST00000356175.3_Nonsense_Mutation_p.Q209*|NF1_ENST00000431387.4_Nonsense_Mutation_p.Q209*	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	209					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		GAAGGTTGCGCAGTTAGCAGT	0.299			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			20	30					0	0	1	0	0	T	29508478	C	T	29508478	4	4	81	1	0	0	0	0	0	1	0	0	10403	711	25	2	647	2	NF1	17	29508478	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	182488	29508478	51686732	12264	15880											
NF1	4763	broad.mit.edu	37	17	29508800	29508800	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:29508800G>A	ENST00000358273.4	+	7	1110	c.727G>A	c.(727-729)Gct>Act	p.A243T	NF1_ENST00000356175.3_Missense_Mutation_p.A243T|NF1_ENST00000431387.4_Missense_Mutation_p.A243T	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	243					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		GACTGATATGGCTGGTAAGGA	0.308			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			18	48					0	0	1	0	0	A	29508800	G	A	29508800	3	1	81	1	0	0	0	0	1	0	0	0	10403	1203	42	2	753	2	NF1	17	29508800	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	322	29508800	51686410	12265	15881											
NF1	4763	broad.mit.edu	37	17	29554597	29554597	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:29554597T>C	ENST00000358273.4	+	20	2765	c.2382T>C	c.(2380-2382)taT>taC	p.Y794Y	NF1_ENST00000356175.3_Silent_p.Y794Y	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	794					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(4)|p.Y794*(1)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TCCTTAACTATCCAAAAGCCA	0.358			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			5	61					0	0	1	0	0	C	29554597	T	C	29554597	2	2	81	1	0	0	0	0	0	0	0	1	10403	1442	50	3		3	NF1	17	29554597	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	45797	29554597	51640613	12266	15882											
NF1	4763	broad.mit.edu	37	17	29557866	29557866	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:29557866G>T	ENST00000358273.4	+	24	3503	c.3120G>T	c.(3118-3120)aaG>aaT	p.K1040N	NF1_ENST00000356175.3_Missense_Mutation_p.K1040N	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1040					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		ATAGGAATAAGATGGTAGAAT	0.363			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			3	21					0.004672	0.00489345	1	1	0	T	29557866	G	T	29557866	3	4	81	1	0	0	0	0	1	0	0	0	10403	933	33	4	3275	4	NF1	17	29557866	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	3269	29557866	51637344	12267	15883											
NF1	4763	broad.mit.edu	37	17	29562966	29562966	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:29562966C>A	ENST00000358273.4	+	29	4284	c.3901C>A	c.(3901-3903)Ctg>Atg	p.L1301M	NF1_ENST00000356175.3_Missense_Mutation_p.L1301M	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1301	Ras-GAP.				actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		ACAAAAACTCCTGGATCCTTT	0.378			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			5	119					0.014758	0.0152304	1	1	0	A	29562966	C	A	29562966	3	1	81	1	0	0	0	0	1	0	0	0	10403	680	24	4	4076	4	NF1	17	29562966	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	5100	29562966	51632244	12268	15884											
NF1	4763	broad.mit.edu	37	17	29587487	29587487	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:29587487C>T	ENST00000358273.4	+	34	4914	c.4531C>T	c.(4531-4533)Ctc>Ttc	p.L1511F	NF1_ENST00000356175.3_Missense_Mutation_p.L1490F	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1511					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		ACATCGTCTACTCTGGAACAA	0.393			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			59	100					0	0	1	0	0	T	29587487	C	T	29587487	3	4	81	1	0	0	0	0	1	0	0	0	10403	565	20	2	4726	2	NF1	17	29587487	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	24521	29587487	51607723	12269	15885											
OMG	4974	broad.mit.edu	37	17	29622442	29622443	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:29622442_29622443insT	ENST00000247271.4	-	2	1168_1169	c.907_908insA	c.(907-909)atafs	p.I303fs	NF1_ENST00000356175.3_Intron|NF1_ENST00000358273.4_Intron	NM_002544.4	NP_002535.3	P23515	OMGP_HUMAN	oligodendrocyte myelin glycoprotein	303					cell adhesion|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	anchored to membrane|plasma membrane		p.0?(8)|p.?(3)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)|stomach(1)	13		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;1.81e-13)|Epithelial(4;4.04e-12)|OV - Ovarian serous cystadenocarcinoma(4;9.49e-12)|GBM - Glioblastoma multiforme(4;0.121)		TTGTTTGGGTATTTTGGTCACT	0.431													15	131	---	---	---	---						T	29622443	-	T	29622442	7	5	81	1	0	1	1	0	0	0	0	0	10914	449	16	0	418	0	OMG	17	29622442	Frame_Shift_Ins	INS	-	TCGA-DU-6392-01A-11D-1705-08	34955	29622442	51572768	12270	15886											
OMG	4974	broad.mit.edu	37	17	29622720	29622720	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:29622720A>G	ENST00000247271.4	-	2	891	c.630T>C	c.(628-630)tcT>tcC	p.S210S	NF1_ENST00000358273.4_Intron|NF1_ENST00000356175.3_Intron	NM_002544.4	NP_002535.3	P23515	OMGP_HUMAN	oligodendrocyte myelin glycoprotein	210					cell adhesion|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	anchored to membrane|plasma membrane		p.0?(8)|p.?(3)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)|stomach(1)	13		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;1.81e-13)|Epithelial(4;4.04e-12)|OV - Ovarian serous cystadenocarcinoma(4;9.49e-12)|GBM - Glioblastoma multiforme(4;0.121)		GTTGGTCAAAAGATTGGTCTG	0.363													70	134					0	0	1	0	0	G	29622720	A	G	29622720	2	3	81	1	0	0	0	0	0	0	0	1	10914	59	3	3		3	OMG	17	29622720	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	278	29622720	51572490	12271	15887											
EVI2A	2123	broad.mit.edu	37	17	29645983	29645983	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:29645983G>T	ENST00000247270.3	-	3	454	c.118C>A	c.(118-120)Ctg>Atg	p.L40M	EVI2A_ENST00000461237.1_Missense_Mutation_p.L17M|NF1_ENST00000581113.2_Intron|EVI2A_ENST00000462804.2_Missense_Mutation_p.L17M|NF1_ENST00000358273.4_Intron|NF1_ENST00000356175.3_Intron	NM_001003927.2	NP_001003927.1	P22794	EVI2A_HUMAN	ecotropic viral integration site 2A	17						integral to membrane	transmembrane receptor activity	p.0?(8)|p.?(3)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	14		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;5.94e-13)|Epithelial(4;7.98e-12)|OV - Ovarian serous cystadenocarcinoma(4;9.4e-12)|GBM - Glioblastoma multiforme(4;0.18)		GTTGTCATCAGAAAGGCAAGA	0.398													75	172					1.15413e-51	1.55404e-51	1	1	0	T	29645983	G	T	29645983	3	4	81	1	0	0	0	0	1	0	0	0	5315	933	33	4	665	4	EVI2A	17	29645983	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	23263	29645983	51549227	12272	15888											
RAB11FIP4	84440	broad.mit.edu	37	17	29848935	29848935	+	Missense_Mutation	SNP	C	C	T	rs145696920		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:29848935C>T	ENST00000325874.8	+	6	990	c.761C>T	c.(760-762)gCg>gTg	p.A254V	RAB11FIP4_ENST00000394744.2_Missense_Mutation_p.A152V	NM_032932.3	NP_116321.2	Q86YS3	RFIP4_HUMAN	RAB11 family interacting protein 4 (class II)	254	Necessary for interaction with RAB11A, subcellular location, homo- or heterooligomerization.				cytokinesis|interspecies interaction between organisms|protein transport	cleavage furrow|endocytic vesicle|midbody|recycling endosome membrane	ADP-ribosylation factor binding|calcium ion binding|protein homodimerization activity|Rab GTPase binding			endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(10;3.62e-13)|all_epithelial(10;0.000387)|all_lung(9;0.0132)|Breast(31;0.014)|all_hematologic(16;0.015)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0259)|Ovarian(249;0.0423)|Lung NSC(157;0.066)				TGAATCAGTGCGGGGCAGACG	0.502													12	29					0	0	1	0	0	T	29848935	C	T	29848935	3	4	81	1	0	0	0	0	1	0	0	0	12948	768	27	1	783	1	RAB11FIP4	17	29848935	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	202952	29848935	51346275	12273	15889											
UTP6	55813	broad.mit.edu	37	17	30202297	30202297	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:30202297T>C	ENST00000261708.4	-	14	1398	c.1261A>G	c.(1261-1263)Ata>Gta	p.I421V	CTC-542B22.2_ENST00000583236.1_lincRNA	NM_018428.2	NP_060898.2	Q9NYH9	UTP6_HUMAN	UTP6, small subunit (SSU) processome component, homolog (yeast)	421					rRNA processing	nucleolus	binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)	21		all_hematologic(16;0.0149)|Ovarian(249;0.021)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|Breast(31;0.231)				AGCATGGCTATGTCAGGGCTC	0.463													31	70					0	0	1	0	0	C	30202297	T	C	30202297	3	2	81	1	0	0	0	0	1	0	0	0	17162	1464	51	3	556	3	UTP6	17	30202297	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	353362	30202297	50992913	12274	15890											
RHOT1	55288	broad.mit.edu	37	17	30521076	30521076	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:30521076A>G	ENST00000358365.3	+	11	1046	c.819A>G	c.(817-819)cgA>cgG	p.R273R	RHOT1_ENST00000545287.2_Silent_p.R273R|RHOT1_ENST00000583994.1_Silent_p.R146R|RHOT1_ENST00000394692.2_Silent_p.R273R|RHOT1_ENST00000333942.6_Silent_p.R273R|RHOT1_ENST00000580976.1_3'UTR|RHOT1_ENST00000354266.3_Silent_p.R252R|RHOT1_ENST00000581094.1_Silent_p.R273R	NM_001033568.1	NP_001028740.1	Q8IXI2	MIRO1_HUMAN	ras homolog family member T1	273					apoptosis|cellular homeostasis|mitochondrion transport along microtubule|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to mitochondrial outer membrane|plasma membrane	calcium ion binding|GTP binding|GTPase activity|protein binding			NS(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28		Myeloproliferative disorder(56;0.0255)|Breast(31;0.116)|Ovarian(249;0.182)				TGCTTCGACGATTTGGTTATG	0.333													190	326					0	0	1	0	0	G	30521076	A	G	30521076	2	3	81	1	0	0	0	0	0	0	0	1	13393	320	12	3		3	RHOT1	17	30521076	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	318779	30521076	50674134	12275	15891											
RHBDL3	162494	broad.mit.edu	37	17	30632392	30632392	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:30632392G>A	ENST00000269051.4	+	7	828	c.814G>A	c.(814-816)Gct>Act	p.A272T	RHBDL3_ENST00000536287.1_Missense_Mutation_p.A174T|RHBDL3_ENST00000538145.1_Missense_Mutation_p.A264T	NM_138328.2	NP_612201.1	P58872	RHBL3_HUMAN	rhomboid, veinlet-like 3 (Drosophila)	272					proteolysis	integral to membrane	calcium ion binding|serine-type endopeptidase activity	p.A272S(1)		breast(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)|skin(1)	16		Breast(31;0.116)|Ovarian(249;0.182)				TGACATGACCGCTCCAGTCGT	0.577													28	64					0	0	1	0	0	A	30632392	G	A	30632392	3	1	81	1	0	0	0	0	1	0	0	0	13373	1087	38	1	840	1	RHBDL3	17	30632392	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	111316	30632392	50562818	12276	15892											
C17orf75	64149	broad.mit.edu	37	17	30666927	30666927	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:30666927G>A	ENST00000577809.1	-	3	301	c.252C>T	c.(250-252)tcC>tcT	p.S84S	C17orf75_ENST00000225805.4_Silent_p.S84S|RP11-227G15.3_ENST00000581915.1_RNA	NM_022344.3	NP_071739.2	Q9HAS0	NJMU_HUMAN	chromosome 17 open reading frame 75	84					spermatogenesis					ovary(1)	1		Breast(31;0.116)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.239)			GCTCCACTTCGGATGGTAGAT	0.458													28	49					0	0	1	0	0	A	30666927	G	A	30666927	2	1	81	1	0	0	0	0	0	0	0	1	1890	1103	39	1		1	C17orf75	17	30666927	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	34535	30666927	50528283	12277	15893											
ZNF207	7756	broad.mit.edu	37	17	30694947	30694947	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:30694947G>T	ENST00000394670.4	+	10	1247	c.1078G>T	c.(1078-1080)Gcg>Tcg	p.A360S	ZNF207_ENST00000342555.6_Missense_Mutation_p.A363S|ZNF207_ENST00000341711.6_Missense_Mutation_p.A261S|ZNF207_ENST00000577908.1_Missense_Mutation_p.A360S|ZNF207_ENST00000321233.6_Missense_Mutation_p.A344S|ZNF207_ENST00000394673.2_Missense_Mutation_p.A329S	NM_001098507.1	NP_001091977.1	O43670	ZN207_HUMAN	zinc finger protein 207	344						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|lung(3)|urinary_tract(2)	10		Breast(31;0.116)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.239)			AGCTAAACCAGCGGCTTCAAT	0.428													6	61					0.00116845	0.00124301	1	1	0	T	30694947	G	T	30694947	3	4	81	1	0	0	0	0	1	0	0	0	17823	971	34	4	1116	4	ZNF207	17	30694947	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	28020	30694947	50500263	12278	15894											
PSMD11	5717	broad.mit.edu	37	17	30791130	30791130	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:30791130G>A	ENST00000261712.3	+	4	645	c.382G>A	c.(382-384)Gct>Act	p.A128T	PSMD11_ENST00000457654.2_Missense_Mutation_p.A128T	NM_001270482.1|NM_002815.3	NP_001257411.1|NP_002806.2	O00231	PSD11_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 11	128					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome complex	protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	19		Breast(31;0.159)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.109)			CTTACGCCAAGCTTTGGAGGT	0.423													45	92					0	0	1	0	0	A	30791130	G	A	30791130	3	1	81	1	0	0	0	0	1	0	0	0	12743	971	34	2	396	2	PSMD11	17	30791130	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	96183	30791130	50404080	12279	15895											
MYO1D	4642	broad.mit.edu	37	17	30986141	30986141	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:30986141A>G	ENST00000318217.5	-	17	2641	c.2337T>C	c.(2335-2337)atT>atC	p.I779I	MYO1D_ENST00000394649.4_Silent_p.I691I|RP11-220C2.1_ENST00000582272.1_RNA|MYO1D_ENST00000579584.1_Silent_p.I779I	NM_015194.1	NP_056009.1	O94832	MYO1D_HUMAN	myosin ID	779						myosin complex	actin binding|ATP binding|calmodulin binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			BRCA - Breast invasive adenocarcinoma(9;0.0362)			ACCTATTGAAAATCGTCTGCA	0.498											OREG0024311	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	44					0	0	1	0	0	G	30986141	A	G	30986141	2	3	81	1	0	0	0	0	0	0	0	1	10119	10	1	3		3	MYO1D	17	30986141	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	195011	30986141	50209069	12280	15896											
MYO1D	4642	broad.mit.edu	37	17	31039046	31039046	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:31039046C>T	ENST00000318217.5	-	16	2385	c.2081G>A	c.(2080-2082)cGt>cAt	p.R694H	MYO1D_ENST00000394649.4_Missense_Mutation_p.R606H|MYO1D_ENST00000579584.1_Missense_Mutation_p.R694H	NM_015194.1	NP_056009.1	O94832	MYO1D_HUMAN	myosin ID	694						myosin complex	actin binding|ATP binding|calmodulin binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			BRCA - Breast invasive adenocarcinoma(9;0.0362)			CATCTGGGCACGGAGTTCTTC	0.333													51	76					0	0	1	0	0	T	31039046	C	T	31039046	3	4	81	1	0	0	0	0	1	0	0	0	10119	536	19	1	967	1	MYO1D	17	31039046	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	52905	31039046	50156164	12281	15897											
TMEM98	26022	broad.mit.edu	37	17	31267806	31267806	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:31267806C>T	ENST00000579849.1	+	8	907	c.476C>T	c.(475-477)aCg>aTg	p.T159M	TMEM98_ENST00000578289.1_Intron|TMEM98_ENST00000394642.3_Missense_Mutation_p.T159M	NM_015544.2	NP_056359.2	Q9Y2Y6	TMM98_HUMAN	transmembrane protein 98	159						endoplasmic reticulum|integral to membrane				kidney(2)|large_intestine(1)	3		Ovarian(249;0.182)|Breast(31;0.244)	BRCA - Breast invasive adenocarcinoma(9;0.0769)			TTCCCTAGGACGACTGCCCTG	0.498													35	85					0	0	1	0	0	T	31267806	C	T	31267806	3	4	81	1	0	0	0	0	1	0	0	0	16285	536	19	1	498	1	TMEM98	17	31267806	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	228760	31267806	49927404	12282	15898											
SPACA3	124912	broad.mit.edu	37	17	31324527	31324527	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:31324527G>T	ENST00000580599.1	+	5	769	c.360G>T	c.(358-360)caG>caT	p.Q120H	SPACA3_ENST00000269053.3_Missense_Mutation_p.Q189H|SPACA3_ENST00000394638.1_Missense_Mutation_p.Q86H|SPACA3_ENST00000394637.2_3'UTR			Q8IXA5	SACA3_HUMAN	sperm acrosome associated 3	189					cell wall macromolecule catabolic process|defense response to Gram-positive bacterium|monocyte activation|peptidoglycan catabolic process|positive regulation of macrophage activation|positive regulation of phagocytosis|response to virus	acrosomal membrane|extracellular region|integral to membrane|lysosome	bacterial cell surface binding|lysozyme activity|protein binding			breast(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1)	18			BRCA - Breast invasive adenocarcinoma(9;0.193)			AAGAGCCTCAGGGTCTGGGTT	0.507													70	87					7.33394e-39	9.84231e-39	1	1	0	T	31324527	G	T	31324527	3	4	81	1	0	0	0	0	1	0	0	0	15027	991	35	4	581	4	SPACA3	17	31324527	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	56721	31324527	49870683	12283	15899											
CCL11	6356	broad.mit.edu	37	17	32614187	32614187	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:32614187G>T	ENST00000305869.3	+	2	290	c.149G>T	c.(148-150)aGg>aTg	p.R50M		NM_002986.2	NP_002977.1	P51671	CCL11_HUMAN	chemokine (C-C motif) ligand 11	50					cell adhesion|cellular calcium ion homeostasis|immune response|positive regulation of actin filament polymerization|positive regulation of cell migration|positive regulation of endothelial cell proliferation|positive regulation of Rac GTPase activity|protein phosphorylation|response to radiation|response to virus|signal transduction	extracellular space	chemokine activity			breast(1)|lung(1)|prostate(1)	3	Breast(3;0.00224)	Breast(31;0.151)|Ovarian(249;0.17)		BRCA - Breast invasive adenocarcinoma(366;0.155)		GAGAGCTACAGGAGAATCACC	0.443													5	38					0.184627	0.18622	1	1	0	T	32614187	G	T	32614187	3	4	81	1	0	0	0	0	1	0	0	0	2903	1000	35	4	155	4	CCL11	17	32614187	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1289660	32614187	48581023	12284	15900											
LIG3	3980	broad.mit.edu	37	17	33326454	33326454	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:33326454G>A	ENST00000378526.4	+	15	2375	c.2242G>A	c.(2242-2244)Gtg>Atg	p.V748M	LIG3_ENST00000262327.5_Missense_Mutation_p.V748M	NM_013975.3	NP_039269.2	P49916	DNLI3_HUMAN	ligase III, DNA, ATP-dependent	748					base-excision repair|cell division|DNA ligation involved in DNA repair|DNA replication|reciprocal meiotic recombination|spermatogenesis	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|protein binding|zinc ion binding			endometrium(4)|large_intestine(8)|lung(9)|ovary(3)|pancreas(2)|prostate(1)|skin(3)|stomach(1)	31		Ovarian(249;0.17)			Bleomycin(DB00290)	ACTAGACATGGTGAAGATCAG	0.572								Other BER factors					8	14					0	0	1	0	0	A	33326454	G	A	33326454	3	1	81	1	0	0	0	0	1	0	0	0	8822	1261	44	2	2296	2	LIG3	17	33326454	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	712267	33326454	47868756	12285	15901											
SLFN5	162394	broad.mit.edu	37	17	33585854	33585854	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:33585854G>A	ENST00000299977.4	+	2	293	c.145G>A	c.(145-147)Gct>Act	p.A49T	SLFN5_ENST00000592325.1_Missense_Mutation_p.A49T|SLFN5_ENST00000542451.1_Missense_Mutation_p.A49T	NM_144975.3	NP_659412.3	Q08AF3	SLFN5_HUMAN	schlafen family member 5	49					cell differentiation		ATP binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(8)|liver(2)|lung(6)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	34		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0191)		AGCAGTATGTGCTCTGCTGAA	0.488													33	35					0	0	1	0	0	A	33585854	G	A	33585854	3	1	81	1	0	0	0	0	1	0	0	0	14791	1319	46	2	147	2	SLFN5	17	33585854	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	259400	33585854	47609356	12286	15902											
SLFN11	91607	broad.mit.edu	37	17	33690097	33690097	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:33690097C>A	ENST00000394566.1	-	4	1002	c.730G>T	c.(730-732)Ggc>Tgc	p.G244C	SLFN11_ENST00000308377.4_Missense_Mutation_p.G244C	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	244						nucleus	ATP binding			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)		AAAAGATAGCCTCCTCCAGTG	0.388													63	120					1.95512e-22	2.56809e-22	1	1	0	A	33690097	C	A	33690097	3	1	81	1	0	0	0	0	1	0	0	0	14788	681	24	4	1991	4	SLFN11	17	33690097	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	104243	33690097	47505113	12287	15903											
PEX12	5193	broad.mit.edu	37	17	33904225	33904225	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:33904225T>A	ENST00000225873.4	-	2	1119	c.512A>T	c.(511-513)gAa>gTa	p.E171V		NM_000286.2	NP_000277.1	O00623	PEX12_HUMAN	peroxisomal biogenesis factor 12	171					protein import into peroxisome matrix	integral to peroxisomal membrane	protein C-terminus binding|zinc ion binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(8)	18				UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		AAACCATCCTTCCCAGGCCAT	0.483													23	25					0	0	1	0	0	A	33904225	T	A	33904225	3	1	81	1	0	0	0	0	1	0	0	0	11788	1783	62	5	575	5	PEX12	17	33904225	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	214128	33904225	47290985	12288	15904											
AP2B1	163	broad.mit.edu	37	17	33935342	33935342	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:33935342delA	ENST00000262325.7	+	5	1014	c.461delA	c.(460-462)caafs	p.Q154fs	AP2B1_ENST00000589344.1_Frame_Shift_Del_p.Q154fs|AP2B1_ENST00000537622.2_Frame_Shift_Del_p.Q154fs|AP2B1_ENST00000592545.1_Frame_Shift_Del_p.Q116fs|AP2B1_ENST00000538556.1_Frame_Shift_Del_p.Q97fs|AP2B1_ENST00000312678.8_Frame_Shift_Del_p.Q154fs	NM_001282.2	NP_001273.1	P63010	AP2B1_HUMAN	adaptor-related protein complex 2, beta 1 subunit	154					axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|vesicle-mediated transport|viral reproduction	clathrin adaptor complex|coated pit|cytosol|endocytic vesicle membrane|plasma membrane	clathrin binding|protein transporter activity			NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		ATCAATGCCCAAATGGTGGAA	0.448													7	124	---	---	---	---						-	33935342	A	-	33935342	7	5	81	1	0	1	0	1	0	0	0	0	737	130	5	0	475	0	AP2B1	17	33935342	Frame_Shift_Del	DEL	A	TCGA-DU-6392-01A-11D-1705-08	31117	33935342	47259868	12289	15905											
AP2B1	163	broad.mit.edu	37	17	33966767	33966767	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:33966767T>C	ENST00000262325.7	+	11	1978	c.1425T>C	c.(1423-1425)gaT>gaC	p.D475D	AP2B1_ENST00000312678.8_Silent_p.D475D|AP2B1_ENST00000537622.2_Silent_p.D475D|AP2B1_ENST00000538556.1_Silent_p.D418D|AP2B1_ENST00000545922.2_3'UTR|AP2B1_ENST00000592545.1_Silent_p.D437D|AP2B1_ENST00000589344.1_Silent_p.D475D	NM_001282.2	NP_001273.1	P63010	AP2B1_HUMAN	adaptor-related protein complex 2, beta 1 subunit	475					axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|vesicle-mediated transport|viral reproduction	clathrin adaptor complex|coated pit|cytosol|endocytic vesicle membrane|plasma membrane	clathrin binding|protein transporter activity			NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		GTTTTCACGATGAAAGCACCC	0.413													5	69					0	0	1	0	0	C	33966767	T	C	33966767	2	2	81	1	0	0	0	0	0	0	0	1	737	1461	51	3		3	AP2B1	17	33966767	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	31425	33966767	47228443	12290	15906											
AP2B1	163	broad.mit.edu	37	17	33984748	33984748	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:33984748C>T	ENST00000262325.7	+	14	2480	c.1927C>T	c.(1927-1929)Cca>Tca	p.P643S	AP2B1_ENST00000312678.8_Missense_Mutation_p.P643S|AP2B1_ENST00000537622.2_Missense_Mutation_p.P643S|AP2B1_ENST00000538556.1_Missense_Mutation_p.P586S|AP2B1_ENST00000545922.2_3'UTR|AP2B1_ENST00000592545.1_Missense_Mutation_p.P605S|AP2B1_ENST00000589344.1_Missense_Mutation_p.P643S	NM_001282.2	NP_001273.1	P63010	AP2B1_HUMAN	adaptor-related protein complex 2, beta 1 subunit	643	Pro-rich (stalk region).				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|vesicle-mediated transport|viral reproduction	clathrin adaptor complex|coated pit|cytosol|endocytic vesicle membrane|plasma membrane	clathrin binding|protein transporter activity			NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		AGTCAATGTGCCACAGGTGTC	0.488													17	36					0	0	1	0	0	T	33984748	C	T	33984748	3	4	81	1	0	0	0	0	1	0	0	0	737	739	26	2	1977	2	AP2B1	17	33984748	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	17981	33984748	47210462	12291	15907											
GAS2L2	246176	broad.mit.edu	37	17	34072536	34072536	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:34072536C>A	ENST00000254466.6	-	6	2007	c.1980G>T	c.(1978-1980)caG>caT	p.Q660H	GAS2L2_ENST00000587565.1_Missense_Mutation_p.Q644H	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	660					cell cycle arrest	cytoplasm|cytoskeleton				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		ATGGGGACCCCTGAGCCAGTT	0.627													11	137					1.58986e-06	1.82794e-06	1	1	0	A	34072536	C	A	34072536	3	1	81	1	0	0	0	0	1	0	0	0	6287	680	24	4	666	4	GAS2L2	17	34072536	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	87788	34072536	47122674	12292	15908											
GAS2L2	246176	broad.mit.edu	37	17	34072720	34072720	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:34072720G>A	ENST00000254466.6	-	6	1823	c.1796C>T	c.(1795-1797)gCc>gTc	p.A599V	GAS2L2_ENST00000587565.1_Missense_Mutation_p.A583V	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	599					cell cycle arrest	cytoplasm|cytoskeleton				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		ACAGTAGATGGCTTGCTCCTT	0.597													28	82					0	0	1	0	0	A	34072720	G	A	34072720	3	1	81	1	0	0	0	0	1	0	0	0	6287	1203	42	2	850	2	GAS2L2	17	34072720	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	184	34072720	47122490	12293	15909											
GAS2L2	246176	broad.mit.edu	37	17	34079532	34079532	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:34079532T>C	ENST00000254466.6	-	1	365	c.338A>G	c.(337-339)aAt>aGt	p.N113S	GAS2L2_ENST00000587565.1_Missense_Mutation_p.N113S	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	113	CH.				cell cycle arrest	cytoplasm|cytoskeleton				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GTTAGAGACATTGTCCCTGGC	0.597													9	106					0	0	1	0	0	C	34079532	T	C	34079532	3	2	81	1	0	0	0	0	1	0	0	0	6287	1493	52	3	2328	3	GAS2L2	17	34079532	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	6812	34079532	47115678	12294	15910											
TAF15	8148	broad.mit.edu	37	17	34172001	34172001	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:34172001C>T	ENST00000592237.1	+	18	1641	c.1112C>T	c.(1111-1113)aCg>aTg	p.T371M	TAF15_ENST00000588240.1_Silent_p.Y566Y|TAF15_ENST00000311979.3_Silent_p.Y563Y			Q92804	RBP56_HUMAN	TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa	0	Arg/Gly-rich.				positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|nucleotide binding|protein binding|RNA binding|zinc ion binding		TAF15/NR4A3(33)	lung(1)|ovary(1)|skin(2)|stomach(1)	5		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		GTGGGGGCTACGGAGGAGACC	0.552			T	"TEC, CHN1, ZNF384"	"extraskeletal myxoid chondrosarcomas, ALL"								11	116					0	0	1	0	0	T	34172001	C	T	34172001	3	4	81	1	0	0	0	0	1	0	0	0	15575	547	19	1	1756	1	TAF15	17	34172001	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	92469	34172001	47023209	12295	15911											
TAF15	8148	broad.mit.edu	37	17	34173933	34173933	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:34173933G>A	ENST00000588240.1	+	16	1878	c.1763G>A	c.(1762-1764)cGc>cAc	p.R588H	TAF15_ENST00000592237.1_Missense_Mutation_p.A393T|TAF15_ENST00000311979.3_Missense_Mutation_p.R585H	NM_003487.3|NM_139215.2	NP_003478.1|NP_631961.1	Q92804	RBP56_HUMAN	TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa	588	Arg/Gly-rich.				positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|nucleotide binding|protein binding|RNA binding|zinc ion binding		TAF15/NR4A3(33)	lung(1)|ovary(1)|skin(2)|stomach(1)	5		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		AATGATCAGCGCAACCGACCA	0.428			T	"TEC, CHN1, ZNF384"	"extraskeletal myxoid chondrosarcomas, ALL"								32	51					0	0	1	0	0	A	34173933	G	A	34173933	3	1	81	1	0	0	0	0	1	0	0	0	15575	1087	38	1	1825	1	TAF15	17	34173933	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1932	34173933	47021277	12296	15912											
C17orf66	256957	broad.mit.edu	37	17	34190004	34190004	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:34190004C>A	ENST00000311880.2	-	8	899	c.751G>T	c.(751-753)Gac>Tac	p.D251Y	C17orf66_ENST00000592980.1_Missense_Mutation_p.D211Y	NM_152781.2	NP_689994.2	A2RTY3	CQ066_HUMAN	chromosome 17 open reading frame 66	251							binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(6)|lung(11)|skin(2)|stomach(4)	38		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0184)		ATCACCTTGTCTTTAGAGACA	0.483													35	45					5.59293e-11	6.89508e-11	1	1	0	A	34190004	C	A	34190004	3	1	81	1	0	0	0	0	1	0	0	0	1883	913	32	4	993	4	C17orf66	17	34190004	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	16071	34190004	47005206	12297	15913											
CCL5	6352	broad.mit.edu	37	17	34199458	34199458	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:34199458G>A	ENST00000293272.3	-	3	401	c.199C>T	c.(199-201)Cga>Tga	p.R67*	AC015849.2_ENST00000413928.1_RNA|CCL5_ENST00000366113.3_Nonsense_Mutation_p.R67*	NM_002985.2	NP_002976.2	P13501	CCL5_HUMAN	chemokine (C-C motif) ligand 5	67					activation of phospholipase D activity|cell-cell signaling|cellular protein complex assembly|chemokine-mediated signaling pathway|dendritic cell chemotaxis|eosinophil chemotaxis|immune response|leukocyte cell-cell adhesion|macrophage chemotaxis|negative regulation of T cell apoptosis|negative regulation of viral genome replication|neutrophil activation|positive regulation of activation of JAK2 kinase activity|positive regulation of cell-cell adhesion mediated by integrin|positive regulation of homotypic cell-cell adhesion|positive regulation of innate immune response|positive regulation of macrophage chemotaxis|positive regulation of monocyte chemotaxis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|positive regulation of T cell apoptosis|positive regulation of T cell chemotaxis|positive regulation of T cell proliferation|positive regulation of translational initiation|positive regulation of tyrosine phosphorylation of STAT protein|positive regulation of viral genome replication|protein tetramerization|regulation of chronic inflammatory response|response to virus	extracellular space	CCR1 chemokine receptor binding|CCR4 chemokine receptor binding|CCR5 chemokine receptor binding|chemoattractant activity|chemokine activity|chemokine receptor antagonist activity|protein homodimerization activity|protein self-association|receptor signaling protein tyrosine kinase activator activity			breast(1)|kidney(1)|lung(1)	3		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0183)		CGGTTCTTTCGGGTGACAAAG	0.507													9	66					0	0	1	0	0	A	34199458	G	A	34199458	4	1	81	1	0	0	0	0	0	1	0	0	2927	1124	39	1	80	1	CCL5	17	34199458	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	9454	34199458	46995752	12298	15914											
CCL4L1	9560	broad.mit.edu	37	17	34539909	34539909	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:34539909G>A	ENST00000588929.1	+	3	281	c.202G>A	c.(202-204)Gtc>Atc	p.V68I	CCL4L1_ENST00000589079.1_3'UTR|CCL4L1_ENST00000444414.1_Missense_Mutation_p.V73I|CCL4L1_ENST00000358756.5_Silent_p.K34K|CCL4L1_ENST00000400702.4_3'UTR|CCL4L1_ENST00000586598.1_3'UTR|CCL4L1_ENST00000378352.4_Missense_Mutation_p.V73I|CCL4L1_ENST00000591167.1_3'UTR|CCL4L1_ENST00000591637.1_3'UTR|CCL4L1_ENST00000589336.1_3'UTR|CCL4L1_ENST00000389068.5_Silent_p.K29K|CCL4L1_ENST00000378350.4_3'UTR	NM_001001435.2	NP_001001435.1			chemokine (C-C motif) ligand 4-like 1														Breast(25;0.102)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		AGGCAAGCAAGTCTGCGCTGA	0.522													4	51					0	0	1	0	0	A	34539909	G	A	34539909	3	1	81	1	0	0	0	0	1	0	0	0	2925	1029	36	2	227	2	CCL4L1	17	34539909	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	340451	34539909	46655301	12299	15915											
PIGW	284098	broad.mit.edu	37	17	34894404	34894404	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:34894404T>C	ENST00000592983.1	+	2	2034	c.1454T>C	c.(1453-1455)tTt>tCt	p.F485S	PIGW_ENST00000328396.2_Missense_Mutation_p.F485S|MYO19_ENST00000590081.1_Intron			Q7Z7B1	PIGW_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class W	485					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	O-acyltransferase activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CTCTATATGTTTTCCAACTGT	0.348													7	63					0	0	1	0	0	C	34894404	T	C	34894404	3	2	81	1	0	0	0	0	1	0	0	0	11950	1841	64	3	1456	3	PIGW	17	34894404	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	354495	34894404	46300806	12300	15916											
DHRS11	79154	broad.mit.edu	37	17	34954662	34954662	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:34954662A>G	ENST00000251312.5	+	3	640	c.428A>G	c.(427-429)gAt>gGt	p.D143G	DHRS11_ENST00000590554.1_Missense_Mutation_p.D64G	NM_024308.3	NP_077284.2	Q6UWP2	DHR11_HUMAN	dehydrogenase/reductase (SDR family) member 11	143						extracellular region	binding|oxidoreductase activity			endometrium(1)|lung(4)	5						AATGTGGACGATGGGCACATC	0.577													33	58					0	0	1	0	0	G	34954662	A	G	34954662	3	3	81	1	0	0	0	0	1	0	0	0	4515	333	12	3	438	3	DHRS11	17	34954662	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	60258	34954662	46240548	12301	15917											
LHX1	3975	broad.mit.edu	37	17	35295511	35295511	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:35295511G>A	ENST00000254457.5	+	1	1428	c.17G>A	c.(16-18)gGc>gAc	p.G6D		NM_005568.3	NP_005559.2	P48742	LHX1_HUMAN	LIM homeobox 1	6	LIM zinc-binding 1.				cerebellar Purkinje cell differentiation|cerebellar Purkinje cell-granule cell precursor cell signaling involved in regulation of granule cell precursor cell proliferation|cervix development|comma-shaped body morphogenesis|dorsal/ventral pattern formation|ectoderm formation|embryonic pattern specification|embryonic retina morphogenesis in camera-type eye|embryonic viscerocranium morphogenesis|endoderm formation|forebrain regionalization|head development|motor axon guidance|negative regulation of transcription, DNA-dependent|nephric duct morphogenesis|nephron tubule epithelial cell differentiation|neuron migration|oviduct epithelium development|paramesonephric duct development|positive regulation of anterior head development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of embryonic development|positive regulation of gastrulation|positive regulation of transcription, DNA-dependent|post-embryonic development|primitive streak formation|renal vesicle morphogenesis|retina layer formation|S-shaped body morphogenesis|spinal cord association neuron differentiation|transcription from RNA polymerase II promoter|ureteric bud development|uterine epithelium development|vagina development	nucleus|protein complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	16		Breast(25;0.00607)				CACTGTGCCGGCTGCAAAAGG	0.562													15	28					0	0	1	0	0	A	35295511	G	A	35295511	3	1	81	1	0	0	0	0	1	0	0	0	8810	1203	42	2	19	2	LHX1	17	35295511	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	340849	35295511	45899699	12302	15918											
AATF	26574	broad.mit.edu	37	17	35310341	35310341	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:35310341C>T	ENST00000225402.5	+	3	690	c.439C>T	c.(439-441)Ccg>Tcg	p.P147S		NM_012138.3	NP_036270.1	Q9NY61	AATF_HUMAN	apoptosis antagonizing transcription factor	147	Glu-rich.				anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|negative regulation of superoxide anion generation|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to DNA damage stimulus	centrosome|focal adhesion|nucleolus	leucine zipper domain binding|sequence-specific DNA binding transcription factor activity			cervix(2)|endometrium(1)|large_intestine(4)|lung(7)|ovary(2)|skin(2)	18		Breast(25;0.00607)				TGCAAAAACACCGGGCTTCAG	0.512													25	27					0	0	1	0	0	T	35310341	C	T	35310341	3	4	81	1	0	0	0	0	1	0	0	0	25	507	18	2	449	2	AATF	17	35310341	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	14830	35310341	45884869	12303	15919											
ACACA	31	broad.mit.edu	37	17	35512704	35512704	+	Splice_Site	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:35512704T>C	ENST00000353139.5	-	43	5831		c.e43-2		ACACA_ENST00000335166.5_Splice_Site|ACACA_ENST00000361253.5_Splice_Site|ACACA_ENST00000360679.3_Splice_Site|ACACA_ENST00000394406.2_Splice_Site	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha						acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	CCTGTATCCCTGTGAAGCACA	0.378													7	89					0	0	1	0	0	C	35512704	T	C	35512704	5	2	81	1	0	0	0	0	0	0	1	0	106	1594	55	3	1859	3	ACACA	17	35512704	Splice_Site	SNP	T	TCGA-DU-6392-01A-11D-1705-08	202363	35512704	45682506	12304	15920											
ACACA	31	broad.mit.edu	37	17	35563703	35563703	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:35563703C>A	ENST00000353139.5	-	32	4423	c.3942G>T	c.(3940-3942)gaG>gaT	p.E1314D	ACACA_ENST00000335166.5_Missense_Mutation_p.E1199D|ACACA_ENST00000360679.3_Missense_Mutation_p.E1219D|ACACA_ENST00000394406.2_Missense_Mutation_p.E1277D	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	1277					acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	ATACCTTATCCTCATCATAAA	0.438													5	44					0.184627	0.18622	1	1	0	A	35563703	C	A	35563703	3	1	81	1	0	0	0	0	1	0	0	0	106	680	24	4	3309	4	ACACA	17	35563703	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	50999	35563703	45631507	12305	15921											
ACACA	31	broad.mit.edu	37	17	35600310	35600310	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:35600310G>A	ENST00000353139.5	-	22	3389	c.2908C>T	c.(2908-2910)Ctc>Ttc	p.L970F	ACACA_ENST00000335166.5_Missense_Mutation_p.L855F|ACACA_ENST00000360679.3_Missense_Mutation_p.L875F|ACACA_ENST00000394406.2_Missense_Mutation_p.L933F	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	933					acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	AACTGACAGAGGACTGATGTG	0.433													45	73					0	0	1	0	0	A	35600310	G	A	35600310	3	1	81	1	0	0	0	0	1	0	0	0	106	1000	35	2	4383	2	ACACA	17	35600310	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	36607	35600310	45594900	12306	15922											
ACACA	31	broad.mit.edu	37	17	35601596	35601596	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:35601596C>T	ENST00000353139.5	-	21	3131	c.2650G>A	c.(2650-2652)Gag>Aag	p.E884K	ACACA_ENST00000335166.5_Missense_Mutation_p.E769K|ACACA_ENST00000360679.3_Missense_Mutation_p.E789K|ACACA_ENST00000394406.2_Missense_Mutation_p.E847K	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	847					acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	TGGAGTTTCTCGCCTCTGAGT	0.453													28	47					0	0	1	0	0	T	35601596	C	T	35601596	3	4	81	1	0	0	0	0	1	0	0	0	106	893	31	1	4645	1	ACACA	17	35601596	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1286	35601596	45593614	12307	15923											
ACACA	31	broad.mit.edu	37	17	35641812	35641812	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:35641812G>T	ENST00000353139.5	-	4	879	c.398C>A	c.(397-399)tCt>tAt	p.S133Y	ACACA_ENST00000335166.5_Missense_Mutation_p.S18Y|ACACA_ENST00000416895.1_3'UTR|ACACA_ENST00000360679.3_Missense_Mutation_p.S38Y|ACACA_ENST00000394406.2_Missense_Mutation_p.S96Y	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	96	Biotin carboxylation.				acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	ATCTCGTTGAGAATCTATTTT	0.388													34	80					5.91797e-21	7.7397e-21	1	1	0	T	35641812	G	T	35641812	3	4	81	1	0	0	0	0	1	0	0	0	106	942	33	4	6965	4	ACACA	17	35641812	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	40216	35641812	45553398	12308	15924											
DUSP14	11072	broad.mit.edu	37	17	35872424	35872424	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:35872424G>A	ENST00000487847.1	+	2	1028	c.50G>A	c.(49-51)cGg>cAg	p.R17Q	DUSP14_ENST00000394386.1_Missense_Mutation_p.R17Q|DUSP14_ENST00000394389.4_Missense_Mutation_p.R17Q			O95147	DUS14_HUMAN	dual specificity phosphatase 14	17							MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|urinary_tract(1)	9		Breast(25;0.00637)|Ovarian(249;0.15)				ATGGCCCCTCGGATGATTTCC	0.567													3	32					0	0	1	0	0	A	35872424	G	A	35872424	3	1	81	1	0	0	0	0	1	0	0	0	4840	1116	39	1	52	1	DUSP14	17	35872424	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	230612	35872424	45322786	12309	15925											
SYNRG	11276	broad.mit.edu	37	17	35896177	35896177	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:35896177G>T	ENST00000339208.6	-	19	3710	c.3570C>A	c.(3568-3570)gcC>gcA	p.A1190A	SYNRG_ENST00000591288.1_Silent_p.A984A|SYNRG_ENST00000345615.4_Silent_p.A1112A|SYNRG_ENST00000394378.2_Silent_p.A1112A|SYNRG_ENST00000346661.4_Silent_p.A1190A|SYNRG_ENST00000585472.1_Silent_p.A1111A|SYNRG_ENST00000502449.2_Silent_p.A1067A	NM_001163544.1|NM_001163545.1|NM_007247.4	NP_001157016.1|NP_001157017.1|NP_009178.3	Q9UMZ2	SYNRG_HUMAN	synergin, gamma	1190					endocytosis|intracellular protein transport	AP-1 adaptor complex	calcium ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						ACACTGCAGTGGCTTTTATCC	0.498													4	30					0.150653	0.152522	1	1	0	T	35896177	G	T	35896177	2	4	81	1	0	0	0	0	0	0	0	1	15517	1335	47	5		5	SYNRG	17	35896177	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	23753	35896177	45299033	12310	15926											
SYNRG	11276	broad.mit.edu	37	17	35900533	35900533	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:35900533G>A	ENST00000339208.6	-	16	3455	c.3315C>T	c.(3313-3315)ccC>ccT	p.P1105P	SYNRG_ENST00000591288.1_Silent_p.P899P|SYNRG_ENST00000345615.4_Silent_p.P1027P|SYNRG_ENST00000394378.2_Silent_p.P1027P|SYNRG_ENST00000346661.4_Silent_p.P1105P|SYNRG_ENST00000585472.1_Silent_p.P1026P|SYNRG_ENST00000502449.2_Silent_p.P982P	NM_001163544.1|NM_001163545.1|NM_007247.4	NP_001157016.1|NP_001157017.1|NP_009178.3	Q9UMZ2	SYNRG_HUMAN	synergin, gamma	1105					endocytosis|intracellular protein transport	AP-1 adaptor complex	calcium ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						CGGGCAGGGCGGGCTTCTCAT	0.522													33	65					0	0	1	0	0	A	35900533	G	A	35900533	2	1	81	1	0	0	0	0	0	0	0	1	15517	1103	39	1		1	SYNRG	17	35900533	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	4356	35900533	45294677	12311	15927											
SYNRG	11276	broad.mit.edu	37	17	35900587	35900587	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:35900587A>G	ENST00000339208.6	-	16	3401	c.3261T>C	c.(3259-3261)tcT>tcC	p.S1087S	SYNRG_ENST00000591288.1_Silent_p.S881S|SYNRG_ENST00000345615.4_Silent_p.S1009S|SYNRG_ENST00000394378.2_Silent_p.S1009S|SYNRG_ENST00000346661.4_Silent_p.S1087S|SYNRG_ENST00000585472.1_Silent_p.S1008S|SYNRG_ENST00000502449.2_Silent_p.S964S	NM_001163544.1|NM_001163545.1|NM_007247.4	NP_001157016.1|NP_001157017.1|NP_009178.3	Q9UMZ2	SYNRG_HUMAN	synergin, gamma	1087					endocytosis|intracellular protein transport	AP-1 adaptor complex	calcium ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						CCAAAGCTGGAGAAGGAGAAG	0.498													46	65					0	0	1	0	0	G	35900587	A	G	35900587	2	3	81	1	0	0	0	0	0	0	0	1	15517	291	11	3		3	SYNRG	17	35900587	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	54	35900587	45294623	12312	15928											
SYNRG	11276	broad.mit.edu	37	17	35930816	35930816	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:35930816C>T	ENST00000339208.6	-	10	1407	c.1267G>A	c.(1267-1269)Ggc>Agc	p.G423S	SYNRG_ENST00000588194.1_5'UTR|SYNRG_ENST00000591288.1_Intron|SYNRG_ENST00000345615.4_Missense_Mutation_p.G345S|SYNRG_ENST00000394378.2_Missense_Mutation_p.G345S|SYNRG_ENST00000346661.4_Missense_Mutation_p.G423S|SYNRG_ENST00000585472.1_Missense_Mutation_p.G344S|SYNRG_ENST00000502449.2_Missense_Mutation_p.G345S	NM_001163544.1|NM_001163545.1|NM_007247.4	NP_001157016.1|NP_001157017.1|NP_009178.3	Q9UMZ2	SYNRG_HUMAN	synergin, gamma	423					endocytosis|intracellular protein transport	AP-1 adaptor complex	calcium ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						AGGTTAATGCCCATGACTGGC	0.547													17	20					0	0	1	0	0	T	35930816	C	T	35930816	3	4	81	1	0	0	0	0	1	0	0	0	15517	623	22	2	2802	2	SYNRG	17	35930816	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	30229	35930816	45264394	12313	15929											
DDX52	11056	broad.mit.edu	37	17	35986132	35986132	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:35986132A>G	ENST00000349699.2	-	8	988	c.945T>C	c.(943-945)ctT>ctC	p.L315L	DDX52_ENST00000394367.3_Silent_p.L207L	NM_007010.3	NP_008941.2	Q9Y2R4	DDX52_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 52	315	Helicase ATP-binding.					nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			biliary_tract(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(5)|ovary(1)|skin(3)	17		Breast(25;0.00637)|Ovarian(249;0.15)				CGTCTACTACAAGCCACTCAA	0.443													4	32					0	0	1	0	0	G	35986132	A	G	35986132	2	3	81	1	0	0	0	0	0	0	0	1	4393	117	5	3		3	DDX52	17	35986132	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	55316	35986132	45209078	12314	15930											
DDX52	11056	broad.mit.edu	37	17	35992283	35992283	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:35992283C>T	ENST00000349699.2	-	4	506	c.463G>A	c.(463-465)Gat>Aat	p.D155N	DDX52_ENST00000394367.3_Missense_Mutation_p.D47N	NM_007010.3	NP_008941.2	Q9Y2R4	DDX52_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 52	155						nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			biliary_tract(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(5)|ovary(1)|skin(3)	17		Breast(25;0.00637)|Ovarian(249;0.15)				TCAGGAAGATCGGTTCCTTGG	0.388													28	74					0	0	1	0	0	T	35992283	C	T	35992283	3	4	81	1	0	0	0	0	1	0	0	0	4393	884	31	1	1384	1	DDX52	17	35992283	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	6151	35992283	45202927	12315	15931											
GPR179	440435	broad.mit.edu	37	17	36483989	36483989	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:36483989C>A	ENST00000342292.4	-	11	5483	c.5463G>T	c.(5461-5463)gaG>gaT	p.E1821D	GPR179_ENST00000584976.1_Intron	NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	1821						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				CTTCACTTACCTCCCAGGGAC	0.532													68	107					3.94839e-29	5.25795e-29	1	1	0	A	36483989	C	A	36483989	3	1	81	1	0	0	0	0	1	0	0	0	6714	680	24	4	1644	4	GPR179	17	36483989	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	491706	36483989	44711221	12316	15932											
GPR179	440435	broad.mit.edu	37	17	36484507	36484507	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:36484507C>T	ENST00000342292.4	-	11	4965	c.4945G>A	c.(4945-4947)Ggc>Agc	p.G1649S		NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	1649						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				TCCCAGGGGCCGACCGCTTCT	0.542													5	85					0	0	1	0	0	T	36484507	C	T	36484507	3	4	81	1	0	0	0	0	1	0	0	0	6714	652	23	1	2162	1	GPR179	17	36484507	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	518	36484507	44710703	12317	15933											
GPR179	440435	broad.mit.edu	37	17	36490664	36490664	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:36490664C>T	ENST00000342292.4	-	8	1727	c.1707G>A	c.(1705-1707)tcG>tcA	p.S569S		NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	569						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				CATGGAAGGCCGAGAGCACAG	0.642													7	9					0	0	1	0	0	T	36490664	C	T	36490664	2	4	81	1	0	0	0	0	0	0	0	1	6714	639	23	1		1	GPR179	17	36490664	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	6157	36490664	44704546	12318	15934											
GPR179	440435	broad.mit.edu	37	17	36499492	36499492	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:36499492C>T	ENST00000342292.4	-	1	201	c.181G>A	c.(181-183)Gct>Act	p.A61T		NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	61						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.A61T(1)		breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				TAGAGATAAGCGAGGGCGGCC	0.637													12	31					0	0	1	0	0	T	36499492	C	T	36499492	3	4	81	1	0	0	0	0	1	0	0	0	6714	768	27	1	6966	1	GPR179	17	36499492	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	8828	36499492	44695718	12319	15935											
MLLT6	4302	broad.mit.edu	37	17	36865496	36865496	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:36865496G>A	ENST00000325718.7	+	5	516	c.425G>A	c.(424-426)cGc>cAc	p.R142H	MLLT6_ENST00000378137.5_Missense_Mutation_p.R142H	NM_005937.3	NP_005928	P55198	AF17_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6	142					regulation of transcription, DNA-dependent	nucleus	protein binding|zinc ion binding			breast(3)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8	Breast(7;4.43e-21)					ACCTGTAACCGCCATGGATGT	0.637			T	MLL	AL								22	141					0	0	1	0	0	A	36865496	G	A	36865496	3	1	81	1	0	0	0	0	1	0	0	0	9678	1087	38	1	443	1	MLLT6	17	36865496	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	366004	36865496	44329714	12320	15936											
MLLT6	4302	broad.mit.edu	37	17	36873734	36873734	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:36873734G>A	ENST00000325718.7	+	11	1792	c.1701G>A	c.(1699-1701)ctG>ctA	p.L567L	CTB-58E17.9_ENST00000579499.1_RNA	NM_005937.3	NP_005928	P55198	AF17_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6	567					regulation of transcription, DNA-dependent	nucleus	protein binding|zinc ion binding			breast(3)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8	Breast(7;4.43e-21)					GCGGGATGCTGCGGGCTGTCT	0.662			T	MLL	AL								23	37					0	0	1	0	0	A	36873734	G	A	36873734	2	1	81	1	0	0	0	0	0	0	0	1	9678	1306	46	2		2	MLLT6	17	36873734	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	8238	36873734	44321476	12321	15937											
MLLT6	4302	broad.mit.edu	37	17	36876694	36876694	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:36876694G>A	ENST00000325718.7	+	15	2316	c.2225G>A	c.(2224-2226)aGc>aAc	p.S742N		NM_005937.3	NP_005928	P55198	AF17_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6	742	Leucine-zipper.				regulation of transcription, DNA-dependent	nucleus	protein binding|zinc ion binding			breast(3)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8	Breast(7;4.43e-21)					CAGATCCTGAGCCTGACGGCC	0.647			T	MLL	AL								12	16					0	0	1	0	0	A	36876694	G	A	36876694	3	1	81	1	0	0	0	0	1	0	0	0	9678	971	34	2	2283	2	MLLT6	17	36876694	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2960	36876694	44318516	12322	15938											
FBXO47	494188	broad.mit.edu	37	17	37111187	37111187	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:37111187C>A	ENST00000378079.2	-	5	629		c.e5-1			NM_001008777.2	NP_001008777.2	Q5MNV8	FBX47_HUMAN	F-box protein 47											NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)	20						AGCAGGAAACCTGTAAAGAAA	0.333													13	28					1.49906e-05	1.6816e-05	1	1	0	A	37111187	C	A	37111187	5	1	81	1	0	0	0	0	0	0	1	0	5789	695	24	4	957	4	FBXO47	17	37111187	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	234493	37111187	44084023	12323	15939											
FBXO47	494188	broad.mit.edu	37	17	37118182	37118182	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:37118182C>T	ENST00000378079.2	-	3	499	c.300G>A	c.(298-300)gaG>gaA	p.E100E		NM_001008777.2	NP_001008777.2	Q5MNV8	FBX47_HUMAN	F-box protein 47	100										NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)	20						TGTCAGGCAGCTCAAGGTTAT	0.383													39	71					0	0	1	0	0	T	37118182	C	T	37118182	2	4	81	1	0	0	0	0	0	0	0	1	5789	796	28	2		2	FBXO47	17	37118182	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	6995	37118182	44077028	12324	15940	78	2									
FBXO47	494188	broad.mit.edu	37	17	37118187	37118187	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:37118187G>T	ENST00000378079.2	-	3	494	c.295C>A	c.(295-297)Ctt>Att	p.L99I		NM_001008777.2	NP_001008777.2	Q5MNV8	FBX47_HUMAN	F-box protein 47	99										NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)	20						GGCAGCTCAAGGTTATGAAAG	0.398													5	108					1.06961e-07	1.25755e-07	1	1	0	T	37118187	G	T	37118187	3	4	81	1	0	0	0	0	1	0	0	0	5789	1000	35	4	1099	4	FBXO47	17	37118187	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	5	37118187	44077023	12325	15941	78	2									
PLXDC1	57125	broad.mit.edu	37	17	37264440	37264440	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:37264440C>T	ENST00000315392.4	-	5	739	c.528G>A	c.(526-528)gcG>gcA	p.A176A	PLXDC1_ENST00000539608.1_Silent_p.A103A|PLXDC1_ENST00000493200.1_5'UTR|PLXDC1_ENST00000394316.2_Silent_p.A176A|PLXDC1_ENST00000444911.2_Silent_p.A136A	NM_020405.4	NP_065138.2	Q8IUK5	PXDC1_HUMAN	plexin domain containing 1	176					angiogenesis	cytoplasm|extracellular region|integral to membrane|tight junction				kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						CCATCAGGGGCGCCACATACT	0.527													43	76					0	0	1	0	0	T	37264440	C	T	37264440	2	4	81	1	0	0	0	0	0	0	0	1	12165	755	27	1		1	PLXDC1	17	37264440	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	146253	37264440	43930770	12326	15942											
FBXL20	84961	broad.mit.edu	37	17	37455300	37455300	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:37455300C>T	ENST00000264658.6	-	5	532	c.272G>A	c.(271-273)gGc>gAc	p.G91D	FBXL20_ENST00000577399.1_Missense_Mutation_p.G93D|FBXL20_ENST00000394294.3_Missense_Mutation_p.G91D|FBXL20_ENST00000583610.1_Missense_Mutation_p.G91D	NM_032875.2	NP_116264.2	Q96IG2	FXL20_HUMAN	F-box and leucine-rich repeat protein 20	91						cytoplasm				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22			LUAD - Lung adenocarcinoma(14;0.146)			TCGTAAAAAGCCCCCACATCG	0.373													29	63					0	0	1	0	0	T	37455300	C	T	37455300	3	4	81	1	0	0	0	0	1	0	0	0	5750	739	26	2	1082	2	FBXL20	17	37455300	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	190860	37455300	43739910	12327	15943											
MED1	5469	broad.mit.edu	37	17	37563934	37563934	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:37563934G>A	ENST00000300651.6	-	17	4763	c.4540C>T	c.(4540-4542)Cga>Tga	p.R1514*	MED1_ENST00000394287.3_Intron	NM_004774.3	NP_004765.2	Q15648	MED1_HUMAN	mediator complex subunit 1	1514	Lys-rich.				androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		tcccggtctcggtccctatct	0.443										HNSCC(31;0.082)			18	34					0	0	1	0	0	A	37563934	G	A	37563934	4	1	81	1	0	0	0	0	0	1	0	0	9475	1124	39	1	209	1	MED1	17	37563934	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	108634	37563934	43631276	12328	15944											
MED1	5469	broad.mit.edu	37	17	37566109	37566109	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:37566109C>A	ENST00000300651.6	-	17	2588	c.2365G>T	c.(2365-2367)Gaa>Taa	p.E789*	MED1_ENST00000394287.3_Intron	NM_004774.3	NP_004765.2	Q15648	MED1_HUMAN	mediator complex subunit 1	789	Interaction with ESR1.|Interaction with VDR.				androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		TTAGAAGCTTCTTCTGCAATG	0.488										HNSCC(31;0.082)			10	79					2.17888e-05	2.43576e-05	1	1	0	A	37566109	C	A	37566109	4	1	81	1	0	0	0	0	0	1	0	0	9475	922	32	4	2384	4	MED1	17	37566109	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2175	37566109	43629101	12329	15945											
MED1	5469	broad.mit.edu	37	17	37587409	37587409	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:37587409A>C	ENST00000300651.6	-	9	831	c.608T>G	c.(607-609)aTt>aGt	p.I203S	MED1_ENST00000394287.3_Missense_Mutation_p.I203S	NM_004774.3	NP_004765.2	Q15648	MED1_HUMAN	mediator complex subunit 1	203	Interaction with ESR1.|Interaction with the Mediator complex and THRA.|Interaction with the Mediator complex.				androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		TCCATGAAGAATCTTATCCAA	0.393										HNSCC(31;0.082)			5	110					0	0	1	0	0	C	37587409	A	C	37587409	3	2	81	1	0	0	0	0	1	0	0	0	9475	101	4	4	4173	4	MED1	17	37587409	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	21300	37587409	43607801	12330	15946											
CDK12	51755	broad.mit.edu	37	17	37627716	37627716	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:37627716C>A	ENST00000447079.4	+	2	1664	c.1631C>A	c.(1630-1632)cCt>cAt	p.P544H	CDK12_ENST00000430627.2_Missense_Mutation_p.P544H	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	544					mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						ACTACTACCCCTCCACCTCAG	0.532			"Mis, N, F"		serous ovarian					TCGA Ovarian(9;0.13)			17	154					1.15919e-05	1.30633e-05	1	1	0	A	37627716	C	A	37627716	3	1	81	1	0	0	0	0	1	0	0	0	3150	681	24	4	1637	4	CDK12	17	37627716	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	40307	37627716	43567494	12331	15947											
NEUROD2	4761	broad.mit.edu	37	17	37762415	37762415	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:37762415C>A	ENST00000302584.4	-	2	658	c.438G>T	c.(436-438)aaG>aaT	p.K146N		NM_006160.3	NP_006151.3	Q15784	NDF2_HUMAN	neuronal differentiation 2	146	Helix-loop-helix motif.				cellular response to calcium ion|cellular response to electrical stimulus|cerebellar cortex development|negative regulation of synapse maturation|positive regulation of calcium-mediated signaling|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of synapse maturation|positive regulation of synaptic plasticity|protein ubiquitination|regulation of transcription from RNA polymerase II promoter	nucleus	E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(4)	8	Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Lung(15;0.00549)|LUAD - Lung adenocarcinoma(14;0.0664)			AGGGCACCACCTTGCGCAGGT	0.642													14	17					4.93089e-13	6.20298e-13	1	1	0	A	37762415	C	A	37762415	3	1	81	1	0	0	0	0	1	0	0	0	10396	680	24	4	714	4	NEUROD2	17	37762415	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	134699	37762415	43432795	12332	15948											
ERBB2	2064	broad.mit.edu	37	17	37865570	37865570	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:37865570G>T	ENST00000406381.2	+	6	859		c.e6-1		ERBB2_ENST00000578199.1_Splice_Site|ERBB2_ENST00000584450.1_Splice_Site|ERBB2_ENST00000269571.5_Splice_Site|ERBB2_ENST00000541774.1_Splice_Site|ERBB2_ENST00000445658.2_Intron|ERBB2_ENST00000540042.1_Splice_Site|ERBB2_ENST00000584601.1_Splice_Site|ERBB2_ENST00000540147.1_Splice_Site	NM_001005862.1	NP_001005862.1	P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2						cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)	TCACCCCACAGAGATCTTGAA	0.537		1	"A, Mis, O"		"breast, ovarian, other tumour types, NSCLC, gastric"					TCGA GBM(5;<1E-08)			6	109					3.59834e-05	3.99423e-05	1	1	0	T	37865570	G	T	37865570	5	4	81	1	0	0	0	0	0	0	1	0	5234	956	33	4	453	4	ERBB2	17	37865570	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	103155	37865570	43329640	12333	15949											
GRB7	2886	broad.mit.edu	37	17	37899152	37899152	+	Splice_Site	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:37899152T>C	ENST00000309156.4	+	4	565	c.308T>C	c.(307-309)gTa>gCa	p.V103A	GRB7_ENST00000394209.2_Splice_Site_p.V103A|GRB7_ENST00000309185.3_Splice_Site_p.V103A|GRB7_ENST00000578702.1_Intron|GRB7_ENST00000394204.1_Splice_Site_p.V103A|GRB7_ENST00000394211.3_Splice_Site_p.V103A|GRB7_ENST00000445327.2_Splice_Site_p.V126A	NM_005310.3	NP_005301.2	Q14451	GRB7_HUMAN	growth factor receptor-bound protein 7	103	Ras-associating.				blood coagulation|epidermal growth factor receptor signaling pathway|leukocyte migration|negative regulation of translation|positive regulation of cell migration|stress granule assembly	cytosol|focal adhesion|stress granule	phosphatidylinositol binding|protein kinase binding|SH3/SH2 adaptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;6.86e-60)|all cancers(3;1.65e-53)|BRCA - Breast invasive adenocarcinoma(8;2.03e-43)|STAD - Stomach adenocarcinoma(3;1.43e-12)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			GGGGCGCAGGTAGTAAAGGTG	0.587													5	44					0	0	1	0	0	C	37899152	T	C	37899152	5	2	81	1	0	0	0	0	0	0	1	0	6800	1652	57	3	318	3	GRB7	17	37899152	Splice_Site	SNP	T	TCGA-DU-6392-01A-11D-1705-08	33582	37899152	43296058	12334	15950											
GRB7	2886	broad.mit.edu	37	17	37901696	37901696	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:37901696C>A	ENST00000309156.4	+	11	1371	c.1114C>A	c.(1114-1116)Ctg>Atg	p.L372M	GRB7_ENST00000394209.2_Missense_Mutation_p.L372M|GRB7_ENST00000309185.3_Missense_Mutation_p.L372M|GRB7_ENST00000394204.1_Missense_Mutation_p.L372M|GRB7_ENST00000394211.3_Missense_Mutation_p.L372M|GRB7_ENST00000445327.2_Missense_Mutation_p.L395M	NM_005310.3	NP_005301.2	Q14451	GRB7_HUMAN	growth factor receptor-bound protein 7	372					blood coagulation|epidermal growth factor receptor signaling pathway|leukocyte migration|negative regulation of translation|positive regulation of cell migration|stress granule assembly	cytosol|focal adhesion|stress granule	phosphatidylinositol binding|protein kinase binding|SH3/SH2 adaptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;6.86e-60)|all cancers(3;1.65e-53)|BRCA - Breast invasive adenocarcinoma(8;2.03e-43)|STAD - Stomach adenocarcinoma(3;1.43e-12)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			AGATAATACCCTGGTGGCCAT	0.617													6	54					3.59834e-05	3.99423e-05	1	1	0	A	37901696	C	A	37901696	3	1	81	1	0	0	0	0	1	0	0	0	6800	680	24	4	1152	4	GRB7	17	37901696	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2544	37901696	43293514	12335	15951											
GRB7	2886	broad.mit.edu	37	17	37902408	37902408	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:37902408C>T	ENST00000309156.4	+	14	1662	c.1405C>T	c.(1405-1407)Ctc>Ttc	p.L469F	GRB7_ENST00000394209.2_Missense_Mutation_p.L469F|GRB7_ENST00000309185.3_Silent_p.S439S|GRB7_ENST00000394204.1_Silent_p.S439S|GRB7_ENST00000394211.3_Missense_Mutation_p.L469F|GRB7_ENST00000445327.2_Missense_Mutation_p.L492F	NM_005310.3	NP_005301.2	Q14451	GRB7_HUMAN	growth factor receptor-bound protein 7	469	SH2.				blood coagulation|epidermal growth factor receptor signaling pathway|leukocyte migration|negative regulation of translation|positive regulation of cell migration|stress granule assembly	cytosol|focal adhesion|stress granule	phosphatidylinositol binding|protein kinase binding|SH3/SH2 adaptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;6.86e-60)|all cancers(3;1.65e-53)|BRCA - Breast invasive adenocarcinoma(8;2.03e-43)|STAD - Stomach adenocarcinoma(3;1.43e-12)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			GGGCTTTGTCCTCTCTTTGTG	0.587													62	89					0	0	1	0	0	T	37902408	C	T	37902408	3	4	81	1	0	0	0	0	1	0	0	0	6800	681	24	2	1455	2	GRB7	17	37902408	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	712	37902408	43292802	12336	15952											
IKZF3	22806	broad.mit.edu	37	17	37922061	37922061	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:37922061G>A	ENST00000346872.3	-	8	1573	c.1512C>T	c.(1510-1512)caC>caT	p.H504H	IKZF3_ENST00000346243.3_Silent_p.H426H|IKZF3_ENST00000394189.2_Silent_p.H322H|IKZF3_ENST00000439167.2_Silent_p.H431H|IKZF3_ENST00000377952.2_Silent_p.H283H|IKZF3_ENST00000377945.3_Silent_p.H370H|IKZF3_ENST00000377944.3_Silent_p.H361H|IKZF3_ENST00000439016.2_Silent_p.H409H|IKZF3_ENST00000467757.1_Silent_p.H448H|IKZF3_ENST00000351680.3_Silent_p.H465H|IKZF3_ENST00000583368.1_Silent_p.H257H|IKZF3_ENST00000377958.2_Silent_p.H417H|IKZF3_ENST00000535189.1_Silent_p.H470H|IKZF3_ENST00000350532.3_Silent_p.H465H	NM_012481.4	NP_036613.2	Q9UKT9	IKZF3_HUMAN	IKAROS family zinc finger 3 (Aiolos)	504					B cell activation|mesoderm development|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(6)|large_intestine(4)|liver(1)|lung(13)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42	Breast(7;4.5e-103)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			GCAGGGCTCTGTGTTCTCCTC	0.483													10	71					0	0	1	0	0	A	37922061	G	A	37922061	2	1	81	1	0	0	0	0	0	0	0	1	7660	1368	48	2		2	IKZF3	17	37922061	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	19653	37922061	43273149	12337	15953											
ZPBP2	124626	broad.mit.edu	37	17	38024841	38024841	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:38024841T>C	ENST00000348931.4	+	2	283	c.92T>C	c.(91-93)tTc>tCc	p.F31S	ZPBP2_ENST00000584588.1_Missense_Mutation_p.F31S|ZPBP2_ENST00000377940.3_Intron	NM_199321.2	NP_955353.1	Q6X784	ZPBP2_HUMAN	zona pellucida binding protein 2	31					binding of sperm to zona pellucida	extracellular region				kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	15	Colorectal(19;0.000442)		Lung(15;0.00849)|LUSC - Lung squamous cell carcinoma(15;0.171)			AAGAAGGGCTTCATTTATGGC	0.522													8	120					0	0	1	0	0	C	38024841	T	C	38024841	3	2	81	1	0	0	0	0	1	0	0	0	18262	1783	62	3	98	3	ZPBP2	17	38024841	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	102780	38024841	43170369	12338	15954											
ZPBP2	124626	broad.mit.edu	37	17	38029311	38029311	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:38029311C>A	ENST00000377940.3	+	5	713	c.574C>A	c.(574-576)Ccg>Acg	p.P192T	ZPBP2_ENST00000348931.4_Missense_Mutation_p.P214T|ZPBP2_ENST00000584588.1_Missense_Mutation_p.P141T	NM_198844.2	NP_942141.2	Q6X784	ZPBP2_HUMAN	zona pellucida binding protein 2	214					binding of sperm to zona pellucida	extracellular region				kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	15	Colorectal(19;0.000442)		Lung(15;0.00849)|LUSC - Lung squamous cell carcinoma(15;0.171)			TCCTTTTGCGCCGGGGTGGAA	0.388													4	46					3.59834e-05	3.99423e-05	1	1	0	A	38029311	C	A	38029311	3	1	81	1	0	0	0	0	1	0	0	0	18262	739	26	5	662	5	ZPBP2	17	38029311	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	4470	38029311	43165899	12339	15955											
GSDMA	284110	broad.mit.edu	37	17	38133109	38133109	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:38133109A>G	ENST00000301659.4	+	12	1254	c.1136A>G	c.(1135-1137)gAg>gGg	p.E379G		NM_178171.4	NP_835465.2	Q96QA5	GSDMA_HUMAN	gasdermin A	379					apoptosis|induction of apoptosis	perinuclear region of cytoplasm				NS(1)|endometrium(2)|large_intestine(3)|lung(1)	7						CTGGATAAAGAGGGTGTTTTC	0.547													5	103					0	0	1	0	0	G	38133109	A	G	38133109	3	3	81	1	0	0	0	0	1	0	0	0	6857	304	11	3	1178	3	GSDMA	17	38133109	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	103798	38133109	43062101	12340	15956											
GSDMA	284110	broad.mit.edu	37	17	38133298	38133298	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:38133298C>T	ENST00000301659.4	+	12	1443	c.1325C>T	c.(1324-1326)aCc>aTc	p.T442I		NM_178171.4	NP_835465.2	Q96QA5	GSDMA_HUMAN	gasdermin A	442					apoptosis|induction of apoptosis	perinuclear region of cytoplasm				NS(1)|endometrium(2)|large_intestine(3)|lung(1)	7						CAGCAGCTTACCAAGGCCTCC	0.542													36	46					0	0	1	0	0	T	38133298	C	T	38133298	3	4	81	1	0	0	0	0	1	0	0	0	6857	507	18	2	1367	2	GSDMA	17	38133298	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	189	38133298	43061912	12341	15957											
PSMD3	5709	broad.mit.edu	37	17	38140580	38140580	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:38140580C>T	ENST00000264639.4	+	2	428	c.254C>T	c.(253-255)gCg>gTg	p.A85V	PSMD3_ENST00000541736.1_Intron	NM_002809.3	NP_002800.2	O43242	PSMD3_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 3	85					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome complex	enzyme regulator activity|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Colorectal(19;0.000442)					CTAGAGAAAGCGGTTTCAGGC	0.537													6	46					0	0	1	0	0	T	38140580	C	T	38140580	3	4	81	1	0	0	0	0	1	0	0	0	12748	768	27	1	260	1	PSMD3	17	38140580	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	7282	38140580	43054630	12342	15958											
PSMD3	5709	broad.mit.edu	37	17	38146435	38146435	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:38146435C>T	ENST00000264639.4	+	6	1140	c.966C>T	c.(964-966)gtC>gtT	p.V322V	PSMD3_ENST00000541736.1_Silent_p.V184V	NM_002809.3	NP_002800.2	O43242	PSMD3_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 3	322					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome complex	enzyme regulator activity|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Colorectal(19;0.000442)					ACACAGCTGTCGGCTTCAAAC	0.512													7	16					0	0	1	0	0	T	38146435	C	T	38146435	2	4	81	1	0	0	0	0	0	0	0	1	12748	871	31	1		1	PSMD3	17	38146435	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	5855	38146435	43048775	12343	15959											
PSMD3	5709	broad.mit.edu	37	17	38151521	38151521	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:38151521C>T	ENST00000264639.4	+	8	1363	c.1189C>T	c.(1189-1191)Cgg>Tgg	p.R397W	PSMD3_ENST00000541736.1_Missense_Mutation_p.R259W	NM_002809.3	NP_002800.2	O43242	PSMD3_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 3	397	PCI.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome complex	enzyme regulator activity|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Colorectal(19;0.000442)					CCTAATTATCCGGCTGCGGCA	0.547													61	95					0	0	1	0	0	T	38151521	C	T	38151521	3	4	81	1	0	0	0	0	1	0	0	0	12748	643	23	1	1219	1	PSMD3	17	38151521	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	5086	38151521	43043689	12344	15960											
MED24	9862	broad.mit.edu	37	17	38178736	38178736	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:38178736G>T	ENST00000394126.1	-	21	2927	c.2509C>A	c.(2509-2511)Ctg>Atg	p.L837M	MED24_ENST00000501516.3_Splice_Site_p.L831M|MED24_ENST00000394128.2_Splice_Site_p.L812M|MED24_ENST00000356271.3_Splice_Site_p.L799M|MED24_ENST00000394127.2_Splice_Site_p.L799M			O75448	MED24_HUMAN	mediator complex subunit 24	812					androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	41	Colorectal(19;0.000442)					CACACGGCCAGCCTGGCAAAG	0.622													3	11					0.115264	0.117126	1	1	0	T	38178736	G	T	38178736	5	4	81	1	0	0	0	0	0	0	1	0	9492	985	34	4	555	4	MED24	17	38178736	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	27215	38178736	43016474	12345	15961											
MED24	9862	broad.mit.edu	37	17	38185090	38185090	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:38185090C>A	ENST00000394126.1	-	13	1891	c.1473G>T	c.(1471-1473)cgG>cgT	p.R491R	MED24_ENST00000501516.3_Silent_p.R485R|MED24_ENST00000394128.2_Silent_p.R466R|MED24_ENST00000356271.3_Silent_p.R453R|MED24_ENST00000394127.2_Silent_p.R453R			O75448	MED24_HUMAN	mediator complex subunit 24	466					androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	41	Colorectal(19;0.000442)					TGATGAATTTCCGGGCGAAGG	0.642													9	32					6.31663e-08	7.44777e-08	1	1	0	A	38185090	C	A	38185090	2	1	81	1	0	0	0	0	0	0	0	1	9492	842	30	5		5	MED24	17	38185090	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	6354	38185090	43010120	12346	15962											
THRA	7067	broad.mit.edu	37	17	38245666	38245666	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:38245666T>C	ENST00000450525.2	+	9	1681	c.1190T>C	c.(1189-1191)tTc>tCc	p.F397S	THRA_ENST00000394121.4_Intron|THRA_ENST00000584985.1_Intron|THRA_ENST00000264637.4_Intron|THRA_ENST00000546243.1_Missense_Mutation_p.F397S	NM_199334.3	NP_955366.1	P10827	THA_HUMAN	thyroid hormone receptor, alpha	0					negative regulation of RNA polymerase II transcriptional preinitiation complex assembly|negative regulation of transcription initiation, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription from RNA polymerase II promoter	cytosol|nucleoplasm	protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|TBP-class protein binding|thyroid hormone binding|thyroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1)	11	Colorectal(19;0.000442)	Myeloproliferative disorder(1115;0.0255)			Levothyroxine(DB00451)|Liothyronine(DB00279)	ACCGAACTCTTCCCCCCACTC	0.622													13	27					0	0	1	0	0	C	38245666	T	C	38245666	3	2	81	1	0	0	0	0	1	0	0	0	15933	1783	62	3	1220	3	THRA	17	38245666	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	60576	38245666	42949544	12347	15963											
NR1D1	9572	broad.mit.edu	37	17	38251886	38251886	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:38251886C>A	ENST00000246672.3	-	5	1689	c.1059G>T	c.(1057-1059)gaG>gaT	p.E353D		NM_021724.3	NP_068370.1	P20393	NR1D1_HUMAN	nuclear receptor subfamily 1, group D, member 1	353					cellular response to lipopolysaccharide|negative regulation of receptor biosynthetic process|negative regulation of toll-like receptor 4 signaling pathway|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nuclear chromatin|nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(1)|large_intestine(5)|lung(2)|skin(1)|upper_aerodigestive_tract(2)	11	Colorectal(19;0.000442)					CATTTAGGGCCTCGTTATGAC	0.642													24	45					5.35356e-11	6.60132e-11	1	1	0	A	38251886	C	A	38251886	3	1	81	1	0	0	0	0	1	0	0	0	10663	680	24	4	801	4	NR1D1	17	38251886	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	6220	38251886	42943324	12348	15964											
CASC3	22794	broad.mit.edu	37	17	38318393	38318393	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:38318393G>T	ENST00000264645.7	+	5	821	c.595G>T	c.(595-597)Gag>Tag	p.E199*		NM_007359.4	NP_031385.2	O15234	CASC3_HUMAN	cancer susceptibility candidate 3	199	Necessary for RNA-binding, interaction with MAGOH and localization in nucleus speckles.|Sufficient to form the EJC.				mRNA processing|mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|response to stress|RNA splicing	exon-exon junction complex|nuclear speck|perinuclear region of cytoplasm	identical protein binding|RNA binding|ubiquitin protein ligase binding			endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2)	16						GCAAACTCAGGAGGAGGAAGT	0.448													5	50					3.59834e-05	3.99423e-05	1	1	0	T	38318393	G	T	38318393	4	4	81	1	0	0	0	0	0	1	0	0	2679	1175	41	5	613	5	CASC3	17	38318393	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	66507	38318393	42876817	12349	15965											
WIPF2	147179	broad.mit.edu	37	17	38420925	38420925	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:38420925G>A	ENST00000323571.4	+	5	737	c.497G>A	c.(496-498)aGc>aAc	p.S166N	WIPF2_ENST00000494757.1_3'UTR|WIPF2_ENST00000585043.1_Missense_Mutation_p.S166N|WIPF2_ENST00000394103.3_Intron|WIPF2_ENST00000536600.1_Intron|WIPF2_ENST00000583130.1_Missense_Mutation_p.S166N	NM_133264.4	NP_573571.1	Q8TF74	WIPF2_HUMAN	WAS/WASL interacting protein family, member 2	166						cytoplasm|cytoskeleton	actin binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	30						AATACCACCAGCAGTACGGGC	0.637										HNSCC(43;0.11)			33	68					0	0	1	0	0	A	38420925	G	A	38420925	3	1	81	1	0	0	0	0	1	0	0	0	17428	971	34	2	511	2	WIPF2	17	38420925	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	102532	38420925	42774285	12350	15966											
TOP2A	7153	broad.mit.edu	37	17	38546236	38546236	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:38546236G>A	ENST00000423485.1	-	34	4606	c.4448C>T	c.(4447-4449)tCg>tTg	p.S1483L		NM_001067.3	NP_001058.2	P11388	TOP2A_HUMAN	topoisomerase (DNA) II alpha 170kDa	1483					apoptotic chromosome condensation|DNA ligation|DNA repair|DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|phosphatidylinositol-mediated signaling|positive regulation of apoptosis|positive regulation of retroviral genome replication|resolution of meiotic recombination intermediates|sister chromatid segregation	cytoplasm|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|drug binding|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity|ubiquitin binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(9)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	39		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00183)		Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Gatifloxacin(DB01044)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385)	GACTGCTTTCGAAACAATTTT	0.418													11	12					0	0	1	0	0	A	38546236	G	A	38546236	3	1	81	1	0	0	0	0	1	0	0	0	16426	1059	37	1	155	1	TOP2A	17	38546236	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	125311	38546236	42648974	12351	15967											
TOP2A	7153	broad.mit.edu	37	17	38562686	38562686	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:38562686G>A	ENST00000423485.1	-	16	2061	c.1903C>T	c.(1903-1905)Cgt>Tgt	p.R635C		NM_001067.3	NP_001058.2	P11388	TOP2A_HUMAN	topoisomerase (DNA) II alpha 170kDa	635					apoptotic chromosome condensation|DNA ligation|DNA repair|DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|phosphatidylinositol-mediated signaling|positive regulation of apoptosis|positive regulation of retroviral genome replication|resolution of meiotic recombination intermediates|sister chromatid segregation	cytoplasm|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|drug binding|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity|ubiquitin binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(9)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	39		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00183)		Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Gatifloxacin(DB01044)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385)	AACTGGATACGATGTCTTTTC	0.348													10	19					0	0	1	0	0	A	38562686	G	A	38562686	3	1	81	1	0	0	0	0	1	0	0	0	16426	1058	37	1	2772	1	TOP2A	17	38562686	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	16450	38562686	42632524	12352	15968											
TOP2A	7153	broad.mit.edu	37	17	38563914	38563914	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:38563914C>T	ENST00000423485.1	-	13	1671	c.1513G>A	c.(1513-1515)Gct>Act	p.A505T		NM_001067.3	NP_001058.2	P11388	TOP2A_HUMAN	topoisomerase (DNA) II alpha 170kDa	505					apoptotic chromosome condensation|DNA ligation|DNA repair|DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|phosphatidylinositol-mediated signaling|positive regulation of apoptosis|positive regulation of retroviral genome replication|resolution of meiotic recombination intermediates|sister chromatid segregation	cytoplasm|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|drug binding|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity|ubiquitin binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(9)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	39		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00183)		Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Gatifloxacin(DB01044)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385)	TTAATCTCAGCATTTTCCATG	0.303													7	12					0	0	1	0	0	T	38563914	C	T	38563914	3	4	81	1	0	0	0	0	1	0	0	0	16426	710	25	2	3174	2	TOP2A	17	38563914	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1228	38563914	42631296	12353	15969											
TNS4	84951	broad.mit.edu	37	17	38645061	38645061	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:38645061G>A	ENST00000254051.6	-	3	758	c.600C>T	c.(598-600)agC>agT	p.S200S		NM_032865.5	NP_116254.4	Q8IZW8	TENS4_HUMAN	tensin 4	200	Ser-rich.				apoptosis|protein localization	cytoplasm|cytoskeleton|focal adhesion	actin binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	30		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(5;5.91e-05)			AGAAGATGAGGCTCTCACTGC	0.657													26	44					0	0	1	0	0	A	38645061	G	A	38645061	2	1	81	1	0	0	0	0	0	0	0	1	16405	1194	42	2		2	TNS4	17	38645061	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	81147	38645061	42550149	12354	15970											
CCR7	1236	broad.mit.edu	37	17	38711144	38711144	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:38711144G>A	ENST00000246657.2	-	3	1049	c.987C>T	c.(985-987)atC>atT	p.I329I	CCR7_ENST00000579344.1_Silent_p.I323I	NM_001838.3	NP_001829.1	P32248	CCR7_HUMAN	chemokine (C-C motif) receptor 7	329					cell maturation|immunological synapse formation|inflammatory response|interleukin-12 secretion|lymphocyte migration into lymph node|positive regulation of dendritic cell antigen processing and presentation|positive regulation of glycoprotein biosynthetic process|positive regulation of humoral immune response|positive regulation of hypersensitivity|positive regulation of interleukin-12 production|positive regulation of neutrophil chemotaxis|regulation of interferon-gamma production|regulation of interleukin-1 beta secretion|T cell costimulation	integral to membrane|intracellular	C-C chemokine receptor activity|chemokine (C-C motif) ligand 19 binding|chemokine (C-C motif) ligand 21 binding			breast(1)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		Breast(137;0.000496)				ACTTGACGCCGATGAAGGCGT	0.597													4	50					0	0	1	0	0	A	38711144	G	A	38711144	2	1	81	1	0	0	0	0	0	0	0	1	2968	1048	37	1		1	CCR7	17	38711144	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	66083	38711144	42484066	12355	15971											
SMARCE1	6605	broad.mit.edu	37	17	38786991	38786991	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:38786991G>A	ENST00000348513.6	-	10	1782	c.1002C>T	c.(1000-1002)gaC>gaT	p.D334D	SMARCE1_ENST00000377808.4_Silent_p.D299D|SMARCE1_ENST00000580419.1_Silent_p.D299D|KRT222_ENST00000476049.1_3'UTR|SMARCE1_ENST00000431889.2_Silent_p.D316D|SMARCE1_ENST00000544009.1_Silent_p.D264D|SMARCE1_ENST00000578044.1_Silent_p.D264D|SMARCE1_ENST00000400122.3_Silent_p.D264D	NM_003079.4	NP_003070.3	Q969G3	SMCE1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1	334	Glu-rich.				chromatin modification|negative regulation of transcription, DNA-dependent|nervous system development|nucleosome disassembly|regulation of transcription from RNA polymerase II promoter	nBAF complex|npBAF complex|nuclear chromosome|SWI/SNF complex|transcriptional repressor complex	chromatin binding|DNA binding|N-acetyltransferase activity|protein binding|protein N-terminus binding|transcription coactivator activity			large_intestine(1)	1		Breast(137;0.000812)				TGTTCTCGTCGTCTTTCTTCT	0.498													70	153					0	0	1	0	0	A	38786991	G	A	38786991	2	1	81	1	0	0	0	0	0	0	0	1	14834	1136	40	1		1	SMARCE1	17	38786991	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	75847	38786991	42408219	12356	15972											
KRT222	125113	broad.mit.edu	37	17	38821333	38821333	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:38821333G>T	ENST00000476049.1	-	1	60	c.19C>A	c.(19-21)Ctc>Atc	p.L7I	KRT222_ENST00000394052.3_Missense_Mutation_p.L7I			Q8N1A0	KT222_HUMAN	keratin 222	7						intermediate filament	structural molecule activity			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|prostate(2)|skin(1)	15						ATCTCATTGAGTAGCTGGGAC	0.488													13	158					1.15088e-07	1.34837e-07	1	1	0	T	38821333	G	T	38821333	3	4	81	1	0	0	0	0	1	0	0	0	8502	1029	36	4	892	4	KRT222	17	38821333	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	34342	38821333	42373877	12357	15973											
KRT24	192666	broad.mit.edu	37	17	38859507	38859507	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:38859507G>T	ENST00000264651.2	-	1	495	c.439C>A	c.(439-441)Ctc>Atc	p.L147I		NM_019016.2	NP_061889.2	Q2M2I5	K1C24_HUMAN	keratin 24	147	Coil 1A.|Rod.					cytoplasm|intermediate filament	structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00526)				CGGTCATTGAGGTTCTGCATG	0.512													15	168					4.7546e-09	5.70666e-09	1	1	0	T	38859507	G	T	38859507	3	4	81	1	0	0	0	0	1	0	0	0	8504	1000	35	4	1170	4	KRT24	17	38859507	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	38174	38859507	42335703	12358	15974											
KRT25	147183	broad.mit.edu	37	17	38906730	38906730	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:38906730G>A	ENST00000312150.4	-	6	1137	c.1077C>T	c.(1075-1077)acC>acT	p.T359T		NM_181534.3	NP_853512.1	Q7Z3Z0	K1C25_HUMAN	keratin 25	359	Coil 2.|Rod.					cytoplasm|intermediate filament	structural molecule activity			endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4)	16		Breast(137;0.00526)				TCTGGCCCTCGGTCTCGGTTC	0.567													16	247					0	0	1	0	0	A	38906730	G	A	38906730	2	1	81	1	0	0	0	0	0	0	0	1	8505	1103	39	1		1	KRT25	17	38906730	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	47223	38906730	42288480	12359	15975											
KRT25	147183	broad.mit.edu	37	17	38911310	38911310	+	Missense_Mutation	SNP	G	G	A	rs141965826		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:38911310G>A	ENST00000312150.4	-	1	274	c.214C>T	c.(214-216)Cgg>Tgg	p.R72W		NM_181534.3	NP_853512.1	Q7Z3Z0	K1C25_HUMAN	keratin 25	72	Gly-rich.|Head.					cytoplasm|intermediate filament	structural molecule activity			endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4)	16		Breast(137;0.00526)				AGGAGCCCCCGCTCATTCACA	0.572													36	61					0	0	1	0	0	A	38911310	G	A	38911310	3	1	81	1	0	0	0	0	1	0	0	0	8505	1086	38	1	1170	1	KRT25	17	38911310	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	4580	38911310	42283900	12360	15976											
KRT26	353288	broad.mit.edu	37	17	38922856	38922856	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:38922856G>T	ENST00000335552.4	-	8	1366	c.1318C>A	c.(1318-1320)Ctt>Att	p.L440I		NM_181539.4	NP_853517.2	Q7Z3Y9	K1C26_HUMAN	keratin 26	440	Tail.					intermediate filament	structural molecule activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(5)	16		Breast(137;0.00526)				CTCAGTGAAAGGAGATTGCCA	0.338													8	79					5.4927e-09	6.5834e-09	1	1	0	T	38922856	G	T	38922856	3	4	81	1	0	0	0	0	1	0	0	0	8506	1000	35	4	92	4	KRT26	17	38922856	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	11546	38922856	42272354	12361	15977											
KRT26	353288	broad.mit.edu	37	17	38922877	38922877	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:38922877G>A	ENST00000335552.4	-	8	1345	c.1297C>T	c.(1297-1299)Ctg>Ttg	p.L433L		NM_181539.4	NP_853517.2	Q7Z3Y9	K1C26_HUMAN	keratin 26	433	Tail.					intermediate filament	structural molecule activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(5)	16		Breast(137;0.00526)				ATTTGATCCAGTTCCTCAACC	0.338													26	44					0	0	1	0	0	A	38922877	G	A	38922877	2	1	81	1	0	0	0	0	0	0	0	1	8506	1020	36	2		2	KRT26	17	38922877	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	21	38922877	42272333	12362	15978											
KRT26	353288	broad.mit.edu	37	17	38927952	38927952	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:38927952G>A	ENST00000335552.4	-	1	462	c.414C>T	c.(412-414)ttC>ttT	p.F138F		NM_181539.4	NP_853517.2	Q7Z3Y9	K1C26_HUMAN	keratin 26	138	Linker 1.|Rod.					intermediate filament	structural molecule activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(5)	16		Breast(137;0.00526)				CTATGACTGAGAAGTATCTGC	0.413													9	72					0	0	1	0	0	A	38927952	G	A	38927952	2	1	81	1	0	0	0	0	0	0	0	1	8506	933	33	2		2	KRT26	17	38927952	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	5075	38927952	42267258	12363	15979											
KRT27	342574	broad.mit.edu	37	17	38938542	38938542	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:38938542G>T	ENST00000301656.3	-	1	244	c.204C>A	c.(202-204)tcC>tcA	p.S68S		NM_181537.3	NP_853515.2	Q7Z3Y8	K1C27_HUMAN	keratin 27	68	Gly-rich.|Head.					cytoplasm|intermediate filament	structural molecule activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(3)|skin(1)|stomach(1)	21		Breast(137;0.000812)				AGGCAGCACAGGAAGCACTTC	0.592													6	49					0.00198382	0.00209725	1	1	0	T	38938542	G	T	38938542	2	4	81	1	0	0	0	0	0	0	0	1	8507	987	35	4		4	KRT27	17	38938542	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	10590	38938542	42256668	12364	15980											
KRT28	162605	broad.mit.edu	37	17	38948722	38948722	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:38948722G>T	ENST00000306658.7	-	8	1417	c.1352C>A	c.(1351-1353)tCt>tAt	p.S451Y		NM_181535.3	NP_853513.2	Q7Z3Y7	K1C28_HUMAN	keratin 28	451	Tail.					cytoplasm|intermediate filament	structural molecule activity			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30		Breast(137;0.000301)				GGTCATTTTAGATGTCTTTTC	0.373													6	36					3.59834e-05	3.99423e-05	1	1	0	T	38948722	G	T	38948722	3	4	81	1	0	0	0	0	1	0	0	0	8508	942	33	4	46	4	KRT28	17	38948722	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	10180	38948722	42246488	12365	15981											
KRT28	162605	broad.mit.edu	37	17	38953513	38953513	+	Silent	SNP	G	G	A	rs144466094	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:38953513G>A	ENST00000306658.7	-	4	776	c.711C>T	c.(709-711)tgC>tgT	p.C237C		NM_181535.3	NP_853513.2	Q7Z3Y7	K1C28_HUMAN	keratin 28	237	Linker 12.|Rod.					cytoplasm|intermediate filament	structural molecule activity			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30		Breast(137;0.000301)				CCCCAGCCGCGCACTGCAGAG	0.557													15	29					0	0	1	0	0	A	38953513	G	A	38953513	2	1	81	1	0	0	0	0	0	0	0	1	8508	1079	38	1		1	KRT28	17	38953513	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	4791	38953513	42241697	12366	15982											
KRT12	3859	broad.mit.edu	37	17	39019766	39019766	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:39019766C>T	ENST00000251643.4	-	5	1089	c.1066G>A	c.(1066-1068)Gag>Aag	p.E356K		NM_000223.3	NP_000214.1	Q99456	K1C12_HUMAN	keratin 12	356	Coil 2.|Rod.				visual perception	intermediate filament	structural molecule activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	15		Breast(137;0.000301)				AGCTCGATCTCCAGGTTCTGA	0.547													21	26					0	0	1	0	0	T	39019766	C	T	39019766	3	4	81	1	0	0	0	0	1	0	0	0	8492	864	30	2	434	2	KRT12	17	39019766	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	66253	39019766	42175444	12367	15983											
KRT39	390792	broad.mit.edu	37	17	39116560	39116560	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:39116560C>T	ENST00000355612.2	-	6	1225	c.1190G>A	c.(1189-1191)cGc>cAc	p.R397H	AC004231.2_ENST00000418393.1_RNA	NM_213656.3	NP_998821.3	Q6A163	K1C39_HUMAN	keratin 39	397	Coil 2.|Rod.					intermediate filament	structural molecule activity			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	17		Breast(137;0.00043)|Ovarian(249;0.15)				CAGAAGGCTGCGGTATGTGGT	0.478													34	49					0	0	1	0	0	T	39116560	C	T	39116560	3	4	81	1	0	0	0	0	1	0	0	0	8519	768	27	1	293	1	KRT39	17	39116560	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	96794	39116560	42078650	12368	15984											
KRTAP4-5	85289	broad.mit.edu	37	17	39305720	39305720	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:39305720G>A	ENST00000343246.4	-	1	334	c.300C>T	c.(298-300)tgC>tgT	p.C100C		NM_033188.3	NP_149445.3	Q9BYR2	KRA45_HUMAN	keratin associated protein 4-5	105	27 X 5 AA repeats of C-C-[GRQVCHIEK]- [SPTR]-[VSTQYC].					keratin filament				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(4)	6		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			tggacacacagcagctggggc	0.662													10	27					0	0	1	0	0	A	39305720	G	A	39305720	2	1	81	1	0	0	0	0	0	0	0	1	8597	963	34	2		2	KRTAP4-5	17	39305720	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	189160	39305720	41889490	12369	15985											
KRTAP4-3	85290	broad.mit.edu	37	17	39323973	39323973	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:39323973C>T	ENST00000391356.2	-	1	451	c.452G>A	c.(451-453)cGc>cAc	p.R151H		NM_033187.1	NP_149443.1	Q9BYR4	KRA43_HUMAN	keratin associated protein 4-3	151	29 X 5 AA repeats of C-C-[GIKRQVH]-[SPT]- [STA].					keratin filament		p.R151H(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	12		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			GCAAGCCGGGCGGCAGCAGGA	0.632													11	7					0	0	1	0	0	T	39323973	C	T	39323973	3	4	81	1	0	0	0	0	1	0	0	0	8595	768	27	1	139	1	KRTAP4-3	17	39323973	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	18253	39323973	41871237	12370	15986											
KRTAP9-8	83901	broad.mit.edu	37	17	39394564	39394564	+	Silent	SNP	G	G	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:39394564G>C	ENST00000254072.6	+	1	268	c.261G>C	c.(259-261)ggG>ggC	p.G87G		NM_031963.2	NP_114169.2	Q9BYQ0	KRA98_HUMAN	keratin associated protein 9-8	87	15 X 5 AA repeats of C-C-[RQVSGE]- [SPSNQ]-[TASPI].					keratin filament				lung(8)|ovary(1)|prostate(1)	10		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			CCAGCTGTGGGTCCAGCTGTG	0.612													4	53					0	0	1	0	0	C	39394564	G	C	39394564	2	2	81	1	0	0	0	0	0	0	0	1	8615	1248	44	5		5	KRTAP9-8	17	39394564	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	70591	39394564	41800646	12371	15987											
KRTAP9-4	85280	broad.mit.edu	37	17	39406017	39406017	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:39406017G>A	ENST00000334109.2	+	1	79	c.45G>A	c.(43-45)agG>agA	p.R15R		NM_033191.2	NP_149461.2	Q9BYQ2	KRA94_HUMAN	keratin associated protein 9-4	15	15 X 5 AA repeats of C-C-[RQVGE]-[SPTN]- [TASPF].					keratin filament				breast(1)|large_intestine(1)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			CATGCTGCAGGACCACCTGCT	0.602													21	45					0	0	1	0	0	A	39406017	G	A	39406017	2	1	81	1	0	0	0	0	0	0	0	1	8614	1165	41	2		2	KRTAP9-4	17	39406017	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	11453	39406017	41789193	12372	15988											
KRTAP9-4	85280	broad.mit.edu	37	17	39406254	39406254	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:39406254C>T	ENST00000334109.2	+	1	316	c.282C>T	c.(280-282)agC>agT	p.S94S		NM_033191.2	NP_149461.2	Q9BYQ2	KRA94_HUMAN	keratin associated protein 9-4	94	15 X 5 AA repeats of C-C-[RQVGE]-[SPTN]- [TASPF].					keratin filament				breast(1)|large_intestine(1)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			ACCAGAGCAGCTCCTGTGCAC	0.622													38	65					0	0	1	0	0	T	39406254	C	T	39406254	2	4	81	1	0	0	0	0	0	0	0	1	8614	796	28	2		2	KRTAP9-4	17	39406254	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	237	39406254	41788956	12373	15989											
KRT33A	3883	broad.mit.edu	37	17	39502798	39502798	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:39502798C>A	ENST00000007735.3	-	6	1043	c.999G>T	c.(997-999)gaG>gaT	p.E333D		NM_004138.3	NP_004129.2	O76009	KT33A_HUMAN	keratin 33A	333	Coil 2.|Rod.					intermediate filament	protein binding|structural molecule activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	21		Breast(137;0.000496)				GGTTCTGCCGCTCCAGGTCAC	0.632													21	35					4.26978e-12	5.32034e-12	1	1	0	A	39502798	C	A	39502798	3	1	81	1	0	0	0	0	1	0	0	0	8512	796	28	4	223	4	KRT33A	17	39502798	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	96544	39502798	41692412	12374	15990											
KRT33A	3883	broad.mit.edu	37	17	39503321	39503321	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:39503321C>T	ENST00000007735.3	-	4	786	c.742G>A	c.(742-744)Gcc>Acc	p.A248T		NM_004138.3	NP_004129.2	O76009	KT33A_HUMAN	keratin 33A	248	Coil 2.|Rod.					intermediate filament	protein binding|structural molecule activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	21		Breast(137;0.000496)				ACCTGCGTGGCGAACCATTGC	0.622													16	20					0	0	1	0	0	T	39503321	C	T	39503321	3	4	81	1	0	0	0	0	1	0	0	0	8512	768	27	1	488	1	KRT33A	17	39503321	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	523	39503321	41691889	12375	15991											
KRT33B	3884	broad.mit.edu	37	17	39521183	39521183	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:39521183C>T	ENST00000251646.3	-	6	994	c.945G>A	c.(943-945)caG>caA	p.Q315Q		NM_002279.4	NP_002270.1	Q14525	KT33B_HUMAN	keratin 33B	315	Coil 2.|Rod.					intermediate filament	protein binding|structural molecule activity			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(6)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000496)				TGATCAGGCTCTGCACCTGGG	0.617													19	39					0	0	1	0	0	T	39521183	C	T	39521183	2	4	81	1	0	0	0	0	0	0	0	1	8513	912	32	2		2	KRT33B	17	39521183	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	17862	39521183	41674027	12376	15992											
KRT33B	3884	broad.mit.edu	37	17	39521689	39521689	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:39521689C>A	ENST00000251646.3	-	4	754	c.705G>T	c.(703-705)ctG>ctT	p.L235L		NM_002279.4	NP_002270.1	Q14525	KT33B_HUMAN	keratin 33B	235	Coil 2.|Rod.					intermediate filament	protein binding|structural molecule activity			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(6)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000496)				TGGTTTCCACCAGGGCCTCAT	0.647													13	17					3.32936e-07	3.87413e-07	1	1	0	A	39521689	C	A	39521689	2	1	81	1	0	0	0	0	0	0	0	1	8513	581	21	5		5	KRT33B	17	39521689	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	506	39521689	41673521	12377	15993											
KRT33B	3884	broad.mit.edu	37	17	39522799	39522799	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:39522799G>A	ENST00000251646.3	-	3	560	c.511C>T	c.(511-513)Ctg>Ttg	p.L171L		NM_002279.4	NP_002270.1	Q14525	KT33B_HUMAN	keratin 33B	171	Coil 1B.|Rod.					intermediate filament	protein binding|structural molecule activity			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(6)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000496)				GACCTGCACAGGGTCAGCTCA	0.602													22	36					0	0	1	0	0	A	39522799	G	A	39522799	2	1	81	1	0	0	0	0	0	0	0	1	8513	991	35	2		2	KRT33B	17	39522799	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1110	39522799	41672411	12378	15994											
KRT35	3886	broad.mit.edu	37	17	39635705	39635705	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:39635705C>T	ENST00000246639.2	-	3	647	c.515G>A	c.(514-516)gGc>gAc	p.G172D	KRT35_ENST00000393989.1_Missense_Mutation_p.G202D			Q92764	KRT35_HUMAN	keratin 35	202	Coil 1B.|Rod.				anatomical structure morphogenesis	intermediate filament	protein binding|structural molecule activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29		Breast(137;0.000286)				CCTGCGCAGGCCGTTGATGTC	0.572													31	37					0	0	1	0	0	T	39635705	C	T	39635705	3	4	81	1	0	0	0	0	1	0	0	0	8515	739	26	2	782	2	KRT35	17	39635705	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	112906	39635705	41559505	12379	15995											
KRT35	3886	broad.mit.edu	37	17	39635742	39635742	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:39635742C>T	ENST00000246639.2	-	3	610	c.478G>A	c.(478-480)Gtg>Atg	p.V160M	KRT35_ENST00000393989.1_Missense_Mutation_p.V190M			Q92764	KRT35_HUMAN	keratin 35	190	Coil 1B.|Rod.				anatomical structure morphogenesis	intermediate filament	protein binding|structural molecule activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29		Breast(137;0.000286)				CGCAGGGACACCTCCGTCTCA	0.587													29	40					0	0	1	0	0	T	39635742	C	T	39635742	3	4	81	1	0	0	0	0	1	0	0	0	8515	507	18	2	819	2	KRT35	17	39635742	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	37	39635742	41559468	12380	15996											
KRT36	8689	broad.mit.edu	37	17	39644948	39644948	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:39644948C>A	ENST00000393986.2	-	3	550	c.338G>T	c.(337-339)aGg>aTg	p.R113M	KRT36_ENST00000328119.6_Missense_Mutation_p.R163M			O76013	KRT36_HUMAN	keratin 36	163	Coil 1A.|Rod.					intermediate filament	protein binding|structural constituent of epidermis			breast(2)|cervix(1)|kidney(2)|large_intestine(3)|lung(8)|skin(1)	17		Breast(137;0.000286)				CAGGACCAGCCTGGCATTCTC	0.577													8	61					3.09899e-07	3.60815e-07	1	1	0	A	39644948	C	A	39644948	3	1	81	1	0	0	0	0	1	0	0	0	8516	681	24	4	939	4	KRT36	17	39644948	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	9206	39644948	41550262	12381	15997											
KRT16	3868	broad.mit.edu	37	17	39766626	39766626	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:39766626C>T	ENST00000301653.4	-	6	1301	c.1237G>A	c.(1237-1239)Gag>Aag	p.E413K		NM_005557.3	NP_005548.2	P08779	K1C16_HUMAN	keratin 16	413	Coil 2.|Rod.				cell proliferation|epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		Breast(137;0.000307)				GTGGCAATCTCCTGCTCCAGC	0.637													26	53					0	0	1	0	0	T	39766626	C	T	39766626	3	4	81	1	0	0	0	0	1	0	0	0	8496	864	30	2	196	2	KRT16	17	39766626	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	121678	39766626	41428584	12382	15998											
KRT16	3868	broad.mit.edu	37	17	39766687	39766687	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:39766687C>A	ENST00000301653.4	-	6	1240	c.1176G>T	c.(1174-1176)gaG>gaT	p.E392D		NM_005557.3	NP_005548.2	P08779	K1C16_HUMAN	keratin 16	392	Coil 2.|Rod.				cell proliferation|epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		Breast(137;0.000307)				GCTGCTCCATCTCACAGCGTA	0.617													6	87					0.0215528	0.0221217	1	1	0	A	39766687	C	A	39766687	3	1	81	1	0	0	0	0	1	0	0	0	8496	912	32	4	257	4	KRT16	17	39766687	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	61	39766687	41428523	12383	15999											
JUP	3728	broad.mit.edu	37	17	39777845	39777845	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:39777845C>A	ENST00000540235.1	-	7	1310	c.1311G>T	c.(1309-1311)aaG>aaT	p.K437N	KRT17_ENST00000311208.8_Splice_Site_p.K278N			P14923	PLAK_HUMAN	junction plakoglobin	0					adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway involved in heart development|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development	actin cytoskeleton|Axin-APC-beta-catenin-GSK3B complex|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|Z disc|zonula adherens	alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|RPTP-like protein binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	23		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)		CACCCCCCACCTTGCTGAAGA	0.607													5	64					1	1	1	1	0	A	39777845	C	A	39777845	5	1	81	1	0	0	0	0	0	0	1	0	8016	695	24	4		4	JUP	17	39777845	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	11158	39777845	41417365	12384	16000											
GAST	2520	broad.mit.edu	37	17	39871718	39871718	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:39871718C>A	ENST00000329402.3	+	2	97	c.30C>A	c.(28-30)atC>atA	p.I10I	JUP_ENST00000540235.1_Intron	NM_000805.4	NP_000796.1	P01350	GAST_HUMAN	gastrin	10						extracellular region	hormone activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7		Breast(137;0.000307)	BRCA - Breast invasive adenocarcinoma(4;0.0677)			ATGTGCTGATCTTTGCACTGG	0.602													30	296					2.85442e-18	3.69892e-18	1	1	0	A	39871718	C	A	39871718	2	1	81	1	0	0	0	0	0	0	0	1	6292	903	32	4		4	GAST	17	39871718	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	93873	39871718	41323492	12385	16001											
JUP	3728	broad.mit.edu	37	17	39928078	39928078	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:39928078G>T	ENST00000393931.3	-	2	147	c.29C>A	c.(28-30)cCt>cAt	p.P10H	JUP_ENST00000310706.5_Missense_Mutation_p.P10H|JUP_ENST00000540235.1_Missense_Mutation_p.P10H|JUP_ENST00000393930.1_Missense_Mutation_p.P10H	NM_002230.2	NP_002221.1	P14923	PLAK_HUMAN	junction plakoglobin	10					adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway involved in heart development|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development	actin cytoskeleton|Axin-APC-beta-catenin-GSK3B complex|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|Z disc|zonula adherens	alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|RPTP-like protein binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	23		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)		CACCTTGATAGGCTGCTCCAT	0.602													4	10					0.000602214	0.000646338	1	1	0	T	39928078	G	T	39928078	3	4	81	1	0	0	0	0	1	0	0	0	8016	1000	35	4	2260	4	JUP	17	39928078	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	56360	39928078	41267132	12386	16002											
FKBP10	60681	broad.mit.edu	37	17	39973393	39973393	+	Missense_Mutation	SNP	G	G	A	rs137853882		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:39973393G>A	ENST00000321562.4	+	2	433	c.329G>A	c.(328-330)tGt>tAt	p.C110Y		NM_021939.3	NP_068758.3	Q96AY3	FKB10_HUMAN	FK506 binding protein 10, 65 kDa	110	PPIase FKBP-type 1.		Missing (in OI6).		protein folding	endoplasmic reticulum lumen|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity			cervix(1)|endometrium(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Breast(137;0.00122)		BRCA - Breast invasive adenocarcinoma(366;0.148)		ATGGGCATGTGTGTCAACGAG	0.662													25	51					0	0	1	0	0	A	39973393	G	A	39973393	3	1	81	1	0	0	0	0	1	0	0	0	5935	1377	48	2	335	2	FKBP10	17	39973393	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	45315	39973393	41221817	12387	16003											
KLHL10	317719	broad.mit.edu	37	17	40001975	40001975	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:40001975G>A	ENST00000293303.4	+	3	1435	c.1282G>A	c.(1282-1284)Gcc>Acc	p.A428T		NM_152467.3	NP_689680.2	Q6JEL2	KLH10_HUMAN	kelch-like family member 10	428						cytoplasm				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	26		Breast(137;0.000162)				TGATGCAAGCGCCACAACACT	0.498													17	28					0	0	1	0	0	A	40001975	G	A	40001975	3	1	81	1	0	0	0	0	1	0	0	0	8409	1087	38	1	1292	1	KLHL10	17	40001975	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	28582	40001975	41193235	12388	16004											
KLHL10	317719	broad.mit.edu	37	17	40004288	40004288	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:40004288A>T	ENST00000293303.4	+	5	1709	c.1556A>T	c.(1555-1557)aAt>aTt	p.N519I		NM_152467.3	NP_689680.2	Q6JEL2	KLH10_HUMAN	kelch-like family member 10	519						cytoplasm				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	26		Breast(137;0.000162)				CCTCGTAGCAATTTTGGCATC	0.478													36	45					0	0	1	0	0	T	40004288	A	T	40004288	3	4	81	1	0	0	0	0	1	0	0	0	8409	101	4	4	1574	4	KLHL10	17	40004288	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	2313	40004288	41190922	12389	16005											
KLHL11	55175	broad.mit.edu	37	17	40010060	40010060	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:40010060G>A	ENST00000319121.3	-	2	2119	c.2059C>T	c.(2059-2061)Cag>Tag	p.Q687*		NM_018143.1	NP_060613.1	Q9NVR0	KLH11_HUMAN	kelch-like family member 11	687						extracellular region				NS(2)|breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17		Breast(137;0.00156)				TCTTGCATCTGTCTGATGCGG	0.507													55	69					0	0	1	0	0	A	40010060	G	A	40010060	4	1	81	1	0	0	0	0	0	1	0	0	8410	1386	48	2	71	2	KLHL11	17	40010060	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	5772	40010060	41185150	12390	16006											
KLHL11	55175	broad.mit.edu	37	17	40010251	40010251	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:40010251A>C	ENST00000319121.3	-	2	1928	c.1868T>G	c.(1867-1869)aTt>aGt	p.I623S		NM_018143.1	NP_060613.1	Q9NVR0	KLH11_HUMAN	kelch-like family member 11	623						extracellular region				NS(2)|breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17		Breast(137;0.00156)				CTGTTTATCAATATCATCACT	0.453													35	51					0	0	1	0	0	C	40010251	A	C	40010251	3	2	81	1	0	0	0	0	1	0	0	0	8410	101	4	4	262	4	KLHL11	17	40010251	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	191	40010251	41184959	12391	16007											
KLHL11	55175	broad.mit.edu	37	17	40011097	40011097	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:40011097C>T	ENST00000319121.3	-	2	1082	c.1022G>A	c.(1021-1023)tGc>tAc	p.C341Y		NM_018143.1	NP_060613.1	Q9NVR0	KLH11_HUMAN	kelch-like family member 11	341						extracellular region				NS(2)|breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17		Breast(137;0.00156)				GGGGTGCTGGCATGTGCCAGA	0.478													35	59					0	0	1	0	0	T	40011097	C	T	40011097	3	4	81	1	0	0	0	0	1	0	0	0	8410	710	25	2	1108	2	KLHL11	17	40011097	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	846	40011097	41184113	12392	16008											
ACLY	47	broad.mit.edu	37	17	40060989	40060989	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:40060989G>A	ENST00000352035.2	-	10	1188	c.1058C>T	c.(1057-1059)aCg>aTg	p.T353M	ACLY_ENST00000353196.1_Missense_Mutation_p.T353M|ACLY_ENST00000590151.1_Missense_Mutation_p.T353M|ACLY_ENST00000393896.2_Missense_Mutation_p.T353M|ACLY_ENST00000537919.1_Intron	NM_001096.2	NP_001087.2	P53396	ACLY_HUMAN	ATP citrate lyase	353					ATP catabolic process|cellular carbohydrate metabolic process|citrate metabolic process|coenzyme A metabolic process|energy reserve metabolic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	citrate lyase complex|cytosol|nucleus	ATP binding|ATP citrate synthase activity|citrate (pro-3S)-lyase activity|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity		NTN1/ACLY(2)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	28		Breast(137;0.000143)				TACCTTGAACGTGGCAGCCAC	0.493													17	23					0	0	1	0	0	A	40060989	G	A	40060989	3	1	81	1	0	0	0	0	1	0	0	0	143	1145	40	1	2327	1	ACLY	17	40060989	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	49892	40060989	41134221	12393	16009											
CNP	1267	broad.mit.edu	37	17	40120334	40120334	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:40120334C>T	ENST00000393892.3	+	2	396	c.252C>T	c.(250-252)gaC>gaT	p.D84D	CNP_ENST00000591072.1_Intron|CNP_ENST00000393888.1_Silent_p.D64D|CNP_ENST00000592446.1_3'UTR|CNP_ENST00000472031.1_Intron	NM_033133.4	NP_149124.3	P09543	CN37_HUMAN	2',3'-cyclic nucleotide 3' phosphodiesterase						cell killing|cyclic nucleotide catabolic process|RNA metabolic process|synaptic transmission	extracellular space|melanosome	2',3'-cyclic-nucleotide 3'-phosphodiesterase activity|ATP binding|protein binding			breast(1)|kidney(2)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	9		all_cancers(22;2.38e-06)|all_epithelial(22;6.79e-05)|Breast(137;0.000143)		UCEC - Uterine corpus endometrioid carcinoma (308;0.171)		TGTCGGCTGACGCTTACAAGA	0.632													10	12					0	0	1	0	0	T	40120334	C	T	40120334	2	4	81	1	0	0	0	0	0	0	0	1	3649	535	19	1		1	CNP	17	40120334	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	59345	40120334	41074876	12394	16010											
DHX58	79132	broad.mit.edu	37	17	40257143	40257143	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:40257143G>T	ENST00000251642.3	-	10	1516	c.1294C>A	c.(1294-1296)Ctg>Atg	p.L432M		NM_024119.2	NP_077024.2	Q96C10	DHX58_HUMAN	DEXH (Asp-Glu-X-His) box polypeptide 58	432	Helicase C-terminal.				innate immune response	cytoplasm	ATP binding|DNA binding|helicase activity|protein binding|RNA binding|zinc ion binding			breast(2)|endometrium(3)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_cancers(22;9.73e-07)|all_epithelial(22;3.58e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		AGAAGGTTCAGGGTTCCATCT	0.562													10	18					2.52707e-12	3.15709e-12	1	1	0	T	40257143	G	T	40257143	3	4	81	1	0	0	0	0	1	0	0	0	4542	991	35	4	762	4	DHX58	17	40257143	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	136809	40257143	40938067	12395	16011											
KAT2A	2648	broad.mit.edu	37	17	40267022	40267022	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:40267022C>A	ENST00000225916.5	-	13	1960	c.1907G>T	c.(1906-1908)aGc>aTc	p.S636I		NM_021078.2	NP_066564.2	Q92830	KAT2A_HUMAN	K(lysine) acetyltransferase 2A	636	N-acetyltransferase.				chromatin remodeling|histone deubiquitination|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex|STAGA complex|transcription factor TFTC complex	H3 histone acetyltransferase activity|histone deacetylase binding|protein binding|transcription coactivator activity			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						CAGGTAGCGGCTCTTGGGCAC	0.567													13	175					3.27435e-08	3.88014e-08	1	1	0	A	40267022	C	A	40267022	3	1	81	1	0	0	0	0	1	0	0	0	8025	797	28	4	630	4	KAT2A	17	40267022	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	9879	40267022	40928188	12396	16012											
RAB5C	5878	broad.mit.edu	37	17	40280316	40280316	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:40280316T>G	ENST00000393860.3	-	5	720	c.404A>C	c.(403-405)aAg>aCg	p.K135T	CTD-2132N18.3_ENST00000592574.1_Missense_Mutation_p.K135T|RAB5C_ENST00000346213.4_Missense_Mutation_p.K135T|RAB5C_ENST00000547517.1_Missense_Mutation_p.K168T	NM_201434.2	NP_958842.1	P51148	RAB5C_HUMAN	RAB5C, member RAS oncogene family	135					protein transport|small GTPase mediated signal transduction	early endosome membrane|melanosome|plasma membrane	GTP binding|GTPase activity|protein binding			large_intestine(1)|lung(4)|prostate(1)|skin(1)	7		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.128)		CAGGTCTGCCTTGTTACCCGC	0.607													21	44					0	0	1	0	0	G	40280316	T	G	40280316	3	3	81	1	0	0	0	0	1	0	0	0	13002	1609	56	5	258	5	RAB5C	17	40280316	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	13294	40280316	40914894	12397	16013											
STAT5B	6777	broad.mit.edu	37	17	40379676	40379676	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:40379676C>A	ENST00000293328.3	-	3	324	c.156G>T	c.(154-156)caG>caT	p.Q52H		NM_012448.3	NP_036580.2	P51692	STA5B_HUMAN	signal transducer and activator of transcription 5B	52					2-oxoglutarate metabolic process|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|JAK-STAT cascade involved in growth hormone signaling pathway|oxaloacetate metabolic process|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cytosol|nucleoplasm	calcium ion binding|glucocorticoid receptor binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_cancers(22;4.15e-07)|all_epithelial(22;2.83e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.135)	Dasatinib(DB01254)	TAATGTTCTCCTGTGGATTAT	0.473													4	37					0.014758	0.0152304	1	1	0	A	40379676	C	A	40379676	3	1	81	1	0	0	0	0	1	0	0	0	15325	680	24	4	2275	4	STAT5B	17	40379676	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	99360	40379676	40815534	12398	16014											
STAT3	6774	broad.mit.edu	37	17	40500461	40500461	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:40500461C>A	ENST00000264657.5	-	2	386	c.74G>T	c.(73-75)aGc>aTc	p.S25I	STAT3_ENST00000585517.1_Missense_Mutation_p.S25I|STAT3_ENST00000404395.3_Missense_Mutation_p.S25I|STAT3_ENST00000588969.1_Missense_Mutation_p.S25I|STAT3_ENST00000389272.3_Intron	NM_003150.3|NM_139276.2	NP_003141.2|NP_644805.1	P40763	STAT3_HUMAN	signal transducer and activator of transcription 3 (acute-phase response factor)	25					cellular component movement|eating behavior|eye photoreceptor cell differentiation|glucose homeostasis|interleukin-6-mediated signaling pathway|interspecies interaction between organisms|JAK-STAT cascade involved in growth hormone signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein import into nucleus|response to estradiol stimulus|sexual reproduction|temperature homeostasis	cytosol|nucleus|plasma membrane	calcium ion binding|ligand-regulated transcription factor activity|protein dimerization activity|protein kinase binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding	p.S25N(1)		breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135)		BRCA - Breast invasive adenocarcinoma(366;0.139)		CATTGGGAAGCTGTCACTGTA	0.498									Hyperimmunoglobulin E Recurrent Infection Syndrome				6	77					0.0215528	0.0221217	1	1	0	A	40500461	C	A	40500461	3	1	81	1	0	0	0	0	1	0	0	0	15322	797	28	4	2330	4	STAT3	17	40500461	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	120785	40500461	40694749	12399	16015											
PTRF	284119	broad.mit.edu	37	17	40557040	40557040	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:40557040G>A	ENST00000357037.5	-	2	1257	c.838C>T	c.(838-840)Cgc>Tgc	p.R280C		NM_012232.5	NP_036364.2	Q6NZI2	PTRF_HUMAN	polymerase I and transcript release factor	280					regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription initiation from RNA polymerase I promoter	caveola|cytosol|endoplasmic reticulum|microsome|mitochondrion|nucleoplasm	protein binding|rRNA primary transcript binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1)	17		all_cancers(22;0.00146)|Breast(137;0.00116)|all_epithelial(22;0.0134)		BRCA - Breast invasive adenocarcinoma(366;0.193)		GGCACCAGGCGCGTGCCCAGC	0.637													16	29					0	0	1	0	0	A	40557040	G	A	40557040	3	1	81	1	0	0	0	0	1	0	0	0	12867	1087	38	1	338	1	PTRF	17	40557040	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	56579	40557040	40638170	12400	16016											
NAGLU	4669	broad.mit.edu	37	17	40696246	40696246	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:40696246G>A	ENST00000225927.2	+	6	2323	c.2222G>A	c.(2221-2223)gGc>gAc	p.G741D	RP11-400F19.8_ENST00000585572.1_RNA	NM_000263.3	NP_000254.2	P54802	ANAG_HUMAN	N-acetylglucosaminidase, alpha	741						lysosome	alpha-N-acetylglucosaminidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(1)|ovary(2)|skin(1)	12		all_cancers(22;1.58e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)		BRCA - Breast invasive adenocarcinoma(366;0.13)	N-Acetyl-D-glucosamine(DB00141)	TGGGTGGCCGGCTCTTGGTGA	0.572													17	26					0	0	1	0	0	A	40696246	G	A	40696246	3	1	81	1	0	0	0	0	1	0	0	0	10191	1203	42	2	2244	2	NAGLU	17	40696246	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	139206	40696246	40498964	12401	16017											
COASY	80347	broad.mit.edu	37	17	40714858	40714858	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:40714858C>A	ENST00000393818.2	+	1	674	c.218C>A	c.(217-219)gCt>gAt	p.A73D	COASY_ENST00000420359.1_Missense_Mutation_p.A73D|COASY_ENST00000449624.1_Intron|COASY_ENST00000421097.2_Missense_Mutation_p.A73D|COASY_ENST00000590958.1_Missense_Mutation_p.A102D	NM_025233.6	NP_079509.5	Q13057	COASY_HUMAN	CoA synthase	73					coenzyme A biosynthetic process|pantothenate metabolic process	mitochondrial outer membrane	ATP binding|dephospho-CoA kinase activity|pantetheine-phosphate adenylyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)	21		all_cancers(22;1.06e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)		BRCA - Breast invasive adenocarcinoma(366;0.13)		CACCTCTATGCTGGCGCCGAC	0.607													46	75					8.20599e-20	1.06958e-19	1	1	0	A	40714858	C	A	40714858	3	1	81	1	0	0	0	0	1	0	0	0	3675	797	28	4	311	4	COASY	17	40714858	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	18612	40714858	40480352	12402	16018											
COASY	80347	broad.mit.edu	37	17	40717044	40717044	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:40717044C>T	ENST00000393818.2	+	5	1737	c.1281C>T	c.(1279-1281)ggC>ggT	p.G427G	COASY_ENST00000420359.1_Silent_p.G427G|COASY_ENST00000449624.1_Silent_p.G132G|COASY_ENST00000421097.2_Silent_p.G427G|COASY_ENST00000590958.1_Silent_p.G456G	NM_025233.6	NP_079509.5	Q13057	COASY_HUMAN	CoA synthase	427	DPCK.				coenzyme A biosynthetic process|pantothenate metabolic process	mitochondrial outer membrane	ATP binding|dephospho-CoA kinase activity|pantetheine-phosphate adenylyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)	21		all_cancers(22;1.06e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)		BRCA - Breast invasive adenocarcinoma(366;0.13)		AGGTCCTAGGCAGCCGGGTGT	0.532													8	80					0	0	1	0	0	T	40717044	C	T	40717044	2	4	81	1	0	0	0	0	0	0	0	1	3675	697	25	2		2	COASY	17	40717044	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2186	40717044	40478166	12403	16019											
PSMC3IP	29893	broad.mit.edu	37	17	40725521	40725521	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:40725521T>C	ENST00000393795.3	-	5	566	c.458A>G	c.(457-459)cAt>cGt	p.H153R	PSMC3IP_ENST00000590760.1_Missense_Mutation_p.H28R|PSMC3IP_ENST00000587209.1_Missense_Mutation_p.H90R|PSMC3IP_ENST00000253789.5_Missense_Mutation_p.H141R	NM_001256015.1|NM_001256016.1|NM_016556.3	NP_001242944.1|NP_001242945.1|NP_057640.1	Q9P2W1	HOP2_HUMAN	PSMC3 interacting protein	153	DNA binding (By similarity).				DNA recombination|meiosis	nucleus	DNA binding			endometrium(2)|large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(2)	7		all_cancers(22;0.00426)|Breast(137;0.00116)|all_epithelial(22;0.0395)		BRCA - Breast invasive adenocarcinoma(366;0.13)		TGGAGTCACATGATTGGTAGC	0.522													25	195					0	0	1	0	0	C	40725521	T	C	40725521	3	2	81	1	0	0	0	0	1	0	0	0	12737	1464	51	3	211	3	PSMC3IP	17	40725521	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	8477	40725521	40469689	12404	16020											
TUBG2	27175	broad.mit.edu	37	17	40811931	40811931	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:40811931G>T	ENST00000251412.7	+	2	328	c.129G>T	c.(127-129)gaG>gaT	p.E43D		NM_016437.2	NP_057521.1	Q9NRH3	TBG2_HUMAN	tubulin, gamma 2	43					G2/M transition of mitotic cell cycle|microtubule-based process|protein polymerization	cytosol	GTP binding|GTPase activity|structural molecule activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	15		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.141)		TCGCCACCGAGGGCACTGACC	0.662													7	46					0.000157383	0.000171784	1	1	0	T	40811931	G	T	40811931	3	4	81	1	0	0	0	0	1	0	0	0	16827	991	35	4	135	4	TUBG2	17	40811931	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	86410	40811931	40383279	12405	16021											
CNTNAP1	8506	broad.mit.edu	37	17	40839862	40839862	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:40839862G>A	ENST00000264638.4	+	8	1386	c.1169G>A	c.(1168-1170)cGc>cAc	p.R390H	CTD-3193K9.3_ENST00000592440.1_RNA	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN	contactin associated protein 1	390	Laminin G-like 2.				axon guidance|cell adhesion	paranode region of axon	receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		TTTCGCTTCCGCACCTGGGAC	0.642													23	50					0	0	1	0	0	A	40839862	G	A	40839862	3	1	81	1	0	0	0	0	1	0	0	0	3669	1087	38	1	1199	1	CNTNAP1	17	40839862	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	27931	40839862	40355348	12406	16022											
CNTNAP1	8506	broad.mit.edu	37	17	40840894	40840894	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:40840894G>A	ENST00000264638.4	+	10	1674	c.1457G>A	c.(1456-1458)gGt>gAt	p.G486D	CTD-3193K9.3_ENST00000592440.1_RNA	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN	contactin associated protein 1	486	Laminin G-like 2.				axon guidance|cell adhesion	paranode region of axon	receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		GTTGCTCCAGGTTGTCCCAAG	0.602													20	50					0	0	1	0	0	A	40840894	G	A	40840894	5	1	81	1	0	0	0	0	0	0	1	0	3669	1275	44	2	1495	2	CNTNAP1	17	40840894	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1032	40840894	40354316	12407	16023											
CNTNAP1	8506	broad.mit.edu	37	17	40843236	40843236	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:40843236G>A	ENST00000264638.4	+	14	2358	c.2141G>A	c.(2140-2142)cGc>cAc	p.R714H	CTD-3193K9.3_ENST00000592440.1_RNA	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN	contactin associated protein 1	714	Fibrinogen C-terminal.				axon guidance|cell adhesion	paranode region of axon	receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		GGGATCCAGCGCTGTGCCTGT	0.617													54	93					0	0	1	0	0	A	40843236	G	A	40843236	3	1	81	1	0	0	0	0	1	0	0	0	3669	1087	38	1	2195	1	CNTNAP1	17	40843236	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2342	40843236	40351974	12408	16024											
CNTNAP1	8506	broad.mit.edu	37	17	40845514	40845514	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:40845514C>A	ENST00000264638.4	+	18	3169	c.2952C>A	c.(2950-2952)gaC>gaA	p.D984E	CTD-3193K9.3_ENST00000592440.1_RNA	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN	contactin associated protein 1	984	EGF-like 2.				axon guidance|cell adhesion	paranode region of axon	receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		ACACGTGTGACTGTGACCTCA	0.587													36	68					8.73648e-17	1.12305e-16	1	1	0	A	40845514	C	A	40845514	3	1	81	1	0	0	0	0	1	0	0	0	3669	564	20	4	3022	4	CNTNAP1	17	40845514	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2278	40845514	40349696	12409	16025											
EZH1	2145	broad.mit.edu	37	17	40858040	40858040	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:40858040C>A	ENST00000428826.2	-	16	1945	c.1824G>T	c.(1822-1824)caG>caT	p.Q608H	EZH1_ENST00000592743.1_Missense_Mutation_p.Q608H|EZH1_ENST00000590783.1_5'UTR|EZH1_ENST00000590078.1_Missense_Mutation_p.Q538H|EZH1_ENST00000435174.1_Missense_Mutation_p.Q469H|EZH1_ENST00000585893.1_Missense_Mutation_p.Q568H|EZH1_ENST00000415827.2_Missense_Mutation_p.Q599H			Q92800	EZH1_HUMAN	enhancer of zeste homolog 1 (Drosophila)	608					anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	chromatin binding|DNA binding			breast(1)|endometrium(4)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	27		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0784)		TAAGTCCACGCTGGATGCTGC	0.542													10	7					0.000673444	0.000721718	1	1	0	A	40858040	C	A	40858040	3	1	81	1	0	0	0	0	1	0	0	0	5361	796	28	4	443	4	EZH1	17	40858040	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	12526	40858040	40337170	12410	16026											
VPS25	84313	broad.mit.edu	37	17	40928262	40928262	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:40928262G>T	ENST00000253794.2	+	5	382		c.e5-1			NM_032353.2	NP_115729.1	Q9BRG1	VPS25_HUMAN	vacuolar protein sorting 25 homolog (S. cerevisiae)						cellular membrane organization|endosome transport|protein transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endosome membrane|nucleoplasm				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)	5		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0745)		TGTATTCACAGGTTTCCAGGA	0.463													4	42					1.23904e-05	1.39156e-05	1	1	0	T	40928262	G	T	40928262	5	4	81	1	0	0	0	0	0	0	1	0	17256	1014	35	4	360	4	VPS25	17	40928262	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	70222	40928262	40266948	12411	16027											
WNK4	65266	broad.mit.edu	37	17	40939405	40939405	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:40939405A>G	ENST00000246914.5	+	7	1607	c.1586A>G	c.(1585-1587)gAa>gGa	p.E529G	WNK4_ENST00000587705.1_3'UTR	NM_032387.4	NP_115763.2	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	529					intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		AAAGCAAGGGAATTGGAGGCA	0.627													8	52					0	0	1	0	0	G	40939405	A	G	40939405	3	3	81	1	0	0	0	0	1	0	0	0	17440	246	9	3	1612	3	WNK4	17	40939405	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	11143	40939405	40255805	12412	16028											
WNK4	65266	broad.mit.edu	37	17	40947503	40947503	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:40947503C>A	ENST00000246914.5	+	15	3007	c.2986C>A	c.(2986-2988)Ctc>Atc	p.L996I		NM_032387.4	NP_115763.2	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	996					intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		TGCTCGGCCCCTCCCAGGGGA	0.582													8	100					5.18039e-06	5.88187e-06	1	1	0	A	40947503	C	A	40947503	3	1	81	1	0	0	0	0	1	0	0	0	17440	681	24	4	3044	4	WNK4	17	40947503	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	8098	40947503	40247707	12413	16029											
CNTD1	124817	broad.mit.edu	37	17	40951108	40951108	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:40951108G>A	ENST00000588408.1	+	1	299	c.23G>A	c.(22-24)cGa>cAa	p.R8Q	CNTD1_ENST00000588527.1_Intron	NM_173478.2	NP_775749.2	Q8N815	CNTD1_HUMAN	cyclin N-terminal domain containing 1	8										central_nervous_system(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	10		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		ATGAGGCCACGATCGGCCTCC	0.572													4	14					0	0	1	0	0	A	40951108	G	A	40951108	3	1	81	1	0	0	0	0	1	0	0	0	3658	1058	37	1	25	1	CNTD1	17	40951108	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	3605	40951108	40244102	12414	16030											
BECN1	8678	broad.mit.edu	37	17	40970838	40970838	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:40970838G>A	ENST00000361523.4	-	5	450	c.318C>T	c.(316-318)ggC>ggT	p.G106G	BECN1_ENST00000438274.3_Intron|BECN1_ENST00000590099.1_Silent_p.G106G	NM_003766.3	NP_003757.1	Q14457	BECN1_HUMAN	beclin 1, autophagy related	106					anti-apoptosis|cell cycle|cellular defense response|cytokinesis|response to virus	membrane	protein binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	13		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0745)		CCATGGTGCCGCCATCAGATG	0.597													18	33					0	0	1	0	0	A	40970838	G	A	40970838	2	1	81	1	0	0	0	0	0	0	0	1	1394	1074	38	1		1	BECN1	17	40970838	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	19730	40970838	40224372	12415	16031											
PSME3	10197	broad.mit.edu	37	17	40991321	40991321	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:40991321G>A	ENST00000293362.3	+	10	808	c.647G>A	c.(646-648)cGc>cAc	p.R216H	PSME3_ENST00000541124.1_3'UTR|PSME3_ENST00000545225.1_Missense_Mutation_p.R142H|PSME3_ENST00000590720.1_Missense_Mutation_p.R203H|PSME3_ENST00000592169.1_Missense_Mutation_p.R147H|PSME3_ENST00000441946.2_Missense_Mutation_p.R214H	NM_005789.3|NM_176863.2	NP_005780.2|NP_789839.1	P61289	PSME3_HUMAN	proteasome (prosome, macropain) activator subunit 3 (PA28 gamma; Ki)	203					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of proteasomal protein catabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome activator complex	endopeptidase activator activity|identical protein binding|MDM2 binding|p53 binding			NS(1)|cervix(1)|large_intestine(3)|lung(1)	6		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)		GAGGACTATCGCCGCACCGTG	0.468													24	25					0	0	1	0	0	A	40991321	G	A	40991321	3	1	81	1	0	0	0	0	1	0	0	0	12757	1087	38	1	685	1	PSME3	17	40991321	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	20483	40991321	40203889	12416	16032											
G6PC	2538	broad.mit.edu	37	17	41052903	41052903	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:41052903G>T	ENST00000253801.2	+	1	89	c.10G>T	c.(10-12)Gga>Tga	p.G4*	G6PC_ENST00000585489.1_Nonsense_Mutation_p.G4*|G6PC_ENST00000592383.1_Nonsense_Mutation_p.G4*	NM_000151.3	NP_000142.2	P35575	G6PC_HUMAN	glucose-6-phosphatase, catalytic subunit	4					gluconeogenesis|glucose homeostasis|transmembrane transport	integral to endoplasmic reticulum membrane	glucose-6-phosphatase activity|phosphate binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)	23		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.113)		GATGGAGGAAGGAATGAATGT	0.502													4	38					0.150653	0.152522	1	1	0	T	41052903	G	T	41052903	4	4	81	1	0	0	0	0	0	1	0	0	6178	1001	35	4	12	4	G6PC	17	41052903	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	61582	41052903	40142307	12417	16033											
G6PC	2538	broad.mit.edu	37	17	41063057	41063057	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:41063057C>A	ENST00000253801.2	+	5	767	c.688C>A	c.(688-690)Ctg>Atg	p.L230M	G6PC_ENST00000585489.1_3'UTR|G6PC_ENST00000592383.1_3'UTR	NM_000151.3	NP_000142.2	P35575	G6PC_HUMAN	glucose-6-phosphatase, catalytic subunit	230					gluconeogenesis|glucose homeostasis|transmembrane transport	integral to endoplasmic reticulum membrane	glucose-6-phosphatase activity|phosphate binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)	23		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.113)		GCTCAAGGGACTGGGTGTAGA	0.512													18	44					5.03518e-11	6.21509e-11	1	1	0	A	41063057	C	A	41063057	3	1	81	1	0	0	0	0	1	0	0	0	6178	564	20	4	706	4	G6PC	17	41063057	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	10154	41063057	40132153	12418	16034											
RND2	8153	broad.mit.edu	37	17	41180611	41180611	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:41180611C>T	ENST00000544533.1	+	5	708	c.601C>T	c.(601-603)Cga>Tga	p.R201*	RND2_ENST00000587250.2_Nonsense_Mutation_p.R200*	NM_005440.4	NP_005431.1	P52198	RND2_HUMAN	Rho family GTPase 2	200					small GTPase mediated signal transduction	acrosomal membrane	GTP binding|GTPase activity			large_intestine(1)|skin(1)	2		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.156)		GGGAATGCAGCGATCCGCTCA	0.622													4	16					0	0	1	0	0	T	41180611	C	T	41180611	4	4	81	1	0	0	0	0	0	1	0	0	13472	760	27	1	616	1	RND2	17	41180611	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	117554	41180611	40014599	12419	16035											
BRCA1	672	broad.mit.edu	37	17	41201147	41201147	+	Silent	SNP	G	G	T	rs80359878		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:41201147G>T	ENST00000309486.4	-	20	5536	c.4509C>A	c.(4507-4509)acC>acA	p.T1503T	BRCA1_ENST00000493795.1_Silent_p.T1752T|BRCA1_ENST00000352993.3_Silent_p.T657T|BRCA1_ENST00000357654.3_Silent_p.T1799T|BRCA1_ENST00000586385.1_Silent_p.T109T|BRCA1_ENST00000354071.3_Silent_p.T1534T|BRCA1_ENST00000468300.1_Intron|BRCA1_ENST00000591534.1_Silent_p.T290T|BRCA1_ENST00000471181.2_Silent_p.T1820T|BRCA1_ENST00000591849.1_Silent_p.T32T|BRCA1_ENST00000351666.3_Silent_p.T616T|BRCA1_ENST00000346315.3_Silent_p.T1560T|BRCA1_ENST00000491747.2_Silent_p.T695T	NM_007297.3	NP_009228.2	P38398	BRCA1_HUMAN	breast cancer 1, early onset	1799					androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading	BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle	androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		CTGTGCCAAGGGTGAATGATG	0.473			"D, Mis, N, F, S"		ovarian	"breast, ovarian"		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)			12	26					2.80697e-09	3.37799e-09	1	1	0	T	41201147	G	T	41201147	2	4	81	1	0	0	0	0	0	0	0	1	1500	1219	43	5		5	BRCA1	17	41201147	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	20536	41201147	39994063	12420	16036											
BRCA1	672	broad.mit.edu	37	17	41244542	41244542	+	Missense_Mutation	SNP	G	G	T	rs80357601		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:41244542G>T	ENST00000309486.4	-	9	3145	c.2118C>A	c.(2116-2118)aaC>aaA	p.N706K	BRCA1_ENST00000493795.1_Missense_Mutation_p.N955K|BRCA1_ENST00000352993.3_Intron|BRCA1_ENST00000357654.3_Missense_Mutation_p.N1002K|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000354071.3_Missense_Mutation_p.N1002K|BRCA1_ENST00000468300.1_Intron|BRCA1_ENST00000591534.1_Intron|BRCA1_ENST00000471181.2_Missense_Mutation_p.N1002K|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000351666.3_Intron|BRCA1_ENST00000346315.3_Missense_Mutation_p.N1002K|BRCA1_ENST00000491747.2_Intron	NM_007297.3	NP_009228.2	P38398	BRCA1_HUMAN	breast cancer 1, early onset	1002					androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading	BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle	androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		GTTCCTCAAAGTTTTCCTCTA	0.333			"D, Mis, N, F, S"		ovarian	"breast, ovarian"		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)			64	77					1.31171e-36	1.75787e-36	1	1	0	T	41244542	G	T	41244542	3	4	81	1	0	0	0	0	1	0	0	0	1500	1020	36	4	2711	4	BRCA1	17	41244542	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	43395	41244542	39950668	12421	16037											
BRCA1	672	broad.mit.edu	37	17	41244758	41244758	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:41244758A>G	ENST00000309486.4	-	9	2929	c.1902T>C	c.(1900-1902)ccT>ccC	p.P634P	BRCA1_ENST00000493795.1_Silent_p.P883P|BRCA1_ENST00000352993.3_Intron|BRCA1_ENST00000357654.3_Silent_p.P930P|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000354071.3_Silent_p.P930P|BRCA1_ENST00000468300.1_Intron|BRCA1_ENST00000591534.1_Intron|BRCA1_ENST00000471181.2_Silent_p.P930P|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000351666.3_Intron|BRCA1_ENST00000346315.3_Silent_p.P930P|BRCA1_ENST00000491747.2_Intron	NM_007297.3	NP_009228.2	P38398	BRCA1_HUMAN	breast cancer 1, early onset	930					androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading	BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle	androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		GACCAACCACAGGAAAGCCTG	0.388			"D, Mis, N, F, S"		ovarian	"breast, ovarian"		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)			14	125					0	0	1	0	0	G	41244758	A	G	41244758	2	3	81	1	0	0	0	0	0	0	0	1	1500	175	7	3		3	BRCA1	17	41244758	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	216	41244758	39950452	12422	16038											
NBR1	4077	broad.mit.edu	37	17	41347051	41347051	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:41347051C>A	ENST00000422280.1	+	14	2204	c.1745C>A	c.(1744-1746)cCt>cAt	p.P582H	NBR1_ENST00000542611.1_Missense_Mutation_p.P561H|NBR1_ENST00000589872.1_Missense_Mutation_p.P582H|NBR1_ENST00000389312.4_Missense_Mutation_p.P582H|NBR1_ENST00000590996.1_Missense_Mutation_p.P582H|NBR1_ENST00000341165.6_Missense_Mutation_p.P582H	NM_031858.2	NP_114064.1	Q14596	NBR1_HUMAN	neighbor of BRCA1 gene 1	582	ATG8 family protein-binding.				macroautophagy|protein oligomerization	autophagic vacuole|cytoplasmic vesicle|cytosol|late endosome|lysosome|sarcomere	ubiquitin binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	24		Breast(137;0.00086)		BRCA - Breast invasive adenocarcinoma(366;0.0934)		CACAACACCCCTGTGGGTAAG	0.418													8	12					5.50884e-06	6.24461e-06	1	1	0	A	41347051	C	A	41347051	3	1	81	1	0	0	0	0	1	0	0	0	10247	681	24	4	1795	4	NBR1	17	41347051	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	102293	41347051	39848159	12423	16039											
TMEM106A	113277	broad.mit.edu	37	17	41367929	41367929	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:41367929T>C	ENST00000331615.3	+	5	635	c.398T>C	c.(397-399)tTt>tCt	p.F133S	TMEM106A_ENST00000536052.1_Missense_Mutation_p.F133S|TMEM106A_ENST00000541594.1_Missense_Mutation_p.F85S|TMEM106A_ENST00000592564.1_3'UTR|TMEM106A_ENST00000588659.1_Missense_Mutation_p.F133S	NM_145041.1	NP_659478.1	Q96A25	T106A_HUMAN	transmembrane protein 106A	133						integral to membrane				NS(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)	11		Breast(137;0.0164)		BRCA - Breast invasive adenocarcinoma(366;0.0917)		ACAGTGGCCTTTGATGAGGCT	0.542													5	189					0	0	1	0	0	C	41367929	T	C	41367929	3	2	81	1	0	0	0	0	1	0	0	0	16080	1841	64	3	408	3	TMEM106A	17	41367929	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	20878	41367929	39827281	12424	16040											
ARL4D	379	broad.mit.edu	37	17	41477481	41477481	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:41477481C>T	ENST00000320033.4	+	2	588	c.381C>T	c.(379-381)ggC>ggT	p.G127G		NM_001661.3	NP_001652.2	P49703	ARL4D_HUMAN	ADP-ribosylation factor-like 4D	127					protein secretion|small GTPase mediated signal transduction	cytoplasm|nucleolus|plasma membrane	GTP binding|GTPase activity|protein binding			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	8		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.155)		ACAACCAGGGCGTGCCAGTGC	0.657													5	13					0	0	1	0	0	T	41477481	C	T	41477481	2	4	81	1	0	0	0	0	0	0	0	1	937	755	27	1		1	ARL4D	17	41477481	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	109552	41477481	39717729	12425	16041											
DHX8	1659	broad.mit.edu	37	17	41568556	41568556	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:41568556G>T	ENST00000262415.3	+	4	403	c.331G>T	c.(331-333)Gaa>Taa	p.E111*	DHX8_ENST00000540306.1_Nonsense_Mutation_p.E111*	NM_004941.1	NP_004932.1	Q14562	DHX8_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 8	111						catalytic step 2 spliceosome	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.08)		ACCTAAAACAGAAAAAGAAAA	0.318													23	32					3.73988e-18	4.8429e-18	1	1	0	T	41568556	G	T	41568556	4	4	81	1	0	0	0	0	0	1	0	0	4543	943	33	4	345	4	DHX8	17	41568556	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	91075	41568556	39626654	12426	16042											
DHX8	1659	broad.mit.edu	37	17	41571057	41571057	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:41571057G>A	ENST00000262415.3	+	8	1087	c.1015G>A	c.(1015-1017)Gat>Aat	p.D339N	DHX8_ENST00000540306.1_Missense_Mutation_p.D339N	NM_004941.1	NP_004932.1	Q14562	DHX8_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 8	339						catalytic step 2 spliceosome	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.08)		TTAGGATGTGGATCAAGAGAC	0.493													92	110					0	0	1	0	0	A	41571057	G	A	41571057	3	1	81	1	0	0	0	0	1	0	0	0	4543	1174	41	2	1045	2	DHX8	17	41571057	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2501	41571057	39624153	12427	16043											
DHX8	1659	broad.mit.edu	37	17	41576238	41576238	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:41576238C>A	ENST00000262415.3	+	10	1381	c.1309C>A	c.(1309-1311)Ctt>Att	p.L437I	DHX8_ENST00000540306.1_Missense_Mutation_p.L437I	NM_004941.1	NP_004932.1	Q14562	DHX8_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 8	437						catalytic step 2 spliceosome	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.08)		AGATGAGGACCTTGAGATTGA	0.388													14	18					6.31663e-08	7.44777e-08	1	1	0	A	41576238	C	A	41576238	3	1	81	1	0	0	0	0	1	0	0	0	4543	681	24	4	1347	4	DHX8	17	41576238	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	5181	41576238	39618972	12428	16044											
DHX8	1659	broad.mit.edu	37	17	41598189	41598189	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:41598189A>G	ENST00000262415.3	+	20	3080	c.3008A>G	c.(3007-3009)gAg>gGg	p.E1003G	DHX8_ENST00000540306.1_Missense_Mutation_p.E1003G	NM_004941.1	NP_004932.1	Q14562	DHX8_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 8	1003						catalytic step 2 spliceosome	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.08)		GGCTGCAGTGAGGAAATGCTG	0.478											OREG0024435	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	21	34					0	0	1	0	0	G	41598189	A	G	41598189	3	3	81	1	0	0	0	0	1	0	0	0	4543	304	11	3	3086	3	DHX8	17	41598189	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	21951	41598189	39597021	12429	16045											
DHX8	1659	broad.mit.edu	37	17	41601029	41601029	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:41601029G>T	ENST00000262415.3	+	23	3549	c.3477G>T	c.(3475-3477)aaG>aaT	p.K1159N	DHX8_ENST00000540306.1_Intron	NM_004941.1	NP_004932.1	Q14562	DHX8_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 8	1159						catalytic step 2 spliceosome	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.08)		TCACCACCAAGGAATACATGC	0.537													6	84					5.9392e-07	6.87481e-07	1	1	0	T	41601029	G	T	41601029	3	4	81	1	0	0	0	0	1	0	0	0	4543	991	35	4	3567	4	DHX8	17	41601029	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2840	41601029	39594181	12430	16046											
DHX8	1659	broad.mit.edu	37	17	41601117	41601117	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:41601117C>A	ENST00000262415.3	+	23	3637	c.3565C>A	c.(3565-3567)Cta>Ata	p.L1189I	DHX8_ENST00000540306.1_Intron	NM_004941.1	NP_004932.1	Q14562	DHX8_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 8	1189						catalytic step 2 spliceosome	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.08)		CCCAACTAAGCTAAGCAAACA	0.517													6	57					0.00198382	0.00209725	1	1	0	A	41601117	C	A	41601117	3	1	81	1	0	0	0	0	1	0	0	0	4543	796	28	4	3655	4	DHX8	17	41601117	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	88	41601117	39594093	12431	16047											
DHX8	1659	broad.mit.edu	37	17	41601141	41601141	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:41601141C>T	ENST00000262415.3	+	23	3661	c.3589C>T	c.(3589-3591)Cgt>Tgt	p.R1197C	DHX8_ENST00000540306.1_Intron	NM_004941.1	NP_004932.1	Q14562	DHX8_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 8	1197						catalytic step 2 spliceosome	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.08)		GAAGCAACAGCGTCTTGAACC	0.512													23	42					0	0	1	0	0	T	41601141	C	T	41601141	3	4	81	1	0	0	0	0	1	0	0	0	4543	768	27	1	3679	1	DHX8	17	41601141	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	24	41601141	39594069	12432	16048											
ETV4	2118	broad.mit.edu	37	17	41610054	41610054	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:41610054C>T	ENST00000319349.5	-	8	1097	c.799G>A	c.(799-801)Gcc>Acc	p.A267T	ETV4_ENST00000591713.1_Missense_Mutation_p.A267T|ETV4_ENST00000393664.2_Missense_Mutation_p.A267T|ETV4_ENST00000545089.1_Missense_Mutation_p.A213T|ETV4_ENST00000545954.1_Missense_Mutation_p.A228T|ETV4_ENST00000538265.1_Missense_Mutation_p.A228T	NM_001079675.2	NP_001073143.1	P43268	ETV4_HUMAN	ets variant 4	267					positive regulation of transcription, DNA-dependent	nucleolus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		EWSR1/ETV4(6)|CANT1/ETV4(3)|TMPRSS2/ETV4(13)|DDX5_ENST00000540698/ETV4(2)|KLK2/ETV4(2)	ovary(2)|upper_aerodigestive_tract(1)	3		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.0798)		GAGTCGTAGGCGAAGTCCGTC	0.567			T	"EWSR1, TMPRSS2, DDX5, KLK2, CANT1"	"Ewing sarcoma, Prostate carcinoma"								15	35					0	0	1	0	0	T	41610054	C	T	41610054	3	4	81	1	0	0	0	0	1	0	0	0	5309	768	27	1	679	1	ETV4	17	41610054	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	8913	41610054	39585156	12433	16049											
MPP3	4356	broad.mit.edu	37	17	41886367	41886367	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:41886367G>A	ENST00000398393.1	-	17	1873	c.1613C>T	c.(1612-1614)aCg>aTg	p.T538M	MPP3_ENST00000398389.4_Missense_Mutation_p.T513M			Q13368	MPP3_HUMAN	membrane protein, palmitoylated 3 (MAGUK p55 subfamily member 3)	513	Guanylate kinase-like.				signal transduction	cell surface|integral to plasma membrane	guanylate kinase activity			endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26		Breast(137;0.00394)		BRCA - Breast invasive adenocarcinoma(366;0.119)		CATAGGTGGCGTTTTTCTTTT	0.408													32	65					0	0	1	0	0	A	41886367	G	A	41886367	3	1	81	1	0	0	0	0	1	0	0	0	9784	1145	40	1	227	1	MPP3	17	41886367	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	276313	41886367	39308843	12434	16050											
MPP3	4356	broad.mit.edu	37	17	41903202	41903202	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:41903202G>A	ENST00000398393.1	-	7	866	c.606C>T	c.(604-606)gtC>gtT	p.V202V	MPP3_ENST00000398389.4_Silent_p.V177V			Q13368	MPP3_HUMAN	membrane protein, palmitoylated 3 (MAGUK p55 subfamily member 3)	177	PDZ.				signal transduction	cell surface|integral to plasma membrane	guanylate kinase activity			endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26		Breast(137;0.00394)		BRCA - Breast invasive adenocarcinoma(366;0.119)		CTCCAACGTGGACCAGGCCTA	0.617													4	31					0	0	1	0	0	A	41903202	G	A	41903202	2	1	81	1	0	0	0	0	0	0	0	1	9784	1161	41	2		2	MPP3	17	41903202	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	16835	41903202	39292008	12435	16051											
MPP2	4355	broad.mit.edu	37	17	41955231	41955231	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:41955231C>A	ENST00000269095.4	-	13	1907	c.1603G>T	c.(1603-1605)Gcc>Tcc	p.A535S	MPP2_ENST00000518766.1_Missense_Mutation_p.A580S|MPP2_ENST00000523501.1_Missense_Mutation_p.A524S|MPP2_ENST00000536246.1_Missense_Mutation_p.A524S|MPP2_ENST00000520305.1_Missense_Mutation_p.A396S|MPP2_ENST00000461854.1_Missense_Mutation_p.A559S|MPP2_ENST00000377184.3_Missense_Mutation_p.A552S	NM_001278370.1|NM_001278381.1|NM_005374.3	NP_001265299.1|NP_001265310.1|NP_005365	Q14168	MPP2_HUMAN	membrane protein, palmitoylated 2 (MAGUK p55 subfamily member 2)	559	Guanylate kinase-like.				signal transduction	cell surface|integral to plasma membrane|membrane fraction	guanylate kinase activity			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(4)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)	29		Breast(137;0.00314)		BRCA - Breast invasive adenocarcinoma(366;0.12)		TTCTCCATGGCTGTCTGGAGC	0.592													33	52					2.42023e-17	3.11933e-17	1	1	0	A	41955231	C	A	41955231	3	1	81	1	0	0	0	0	1	0	0	0	9783	797	28	4	59	4	MPP2	17	41955231	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	52029	41955231	39239979	12436	16052											
MPP2	4355	broad.mit.edu	37	17	41957259	41957259	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:41957259C>T	ENST00000269095.4	-	11	1548	c.1244G>A	c.(1243-1245)cGc>cAc	p.R415H	MPP2_ENST00000518766.1_Missense_Mutation_p.R460H|MPP2_ENST00000523501.1_Missense_Mutation_p.R404H|MPP2_ENST00000536246.1_Missense_Mutation_p.R404H|MPP2_ENST00000520305.1_Missense_Mutation_p.R276H|MPP2_ENST00000461854.1_Missense_Mutation_p.R439H|MPP2_ENST00000377184.3_Missense_Mutation_p.R432H	NM_001278370.1|NM_001278381.1|NM_005374.3	NP_001265299.1|NP_001265310.1|NP_005365	Q14168	MPP2_HUMAN	membrane protein, palmitoylated 2 (MAGUK p55 subfamily member 2)	439	Guanylate kinase-like.				signal transduction	cell surface|integral to plasma membrane|membrane fraction	guanylate kinase activity			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(4)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)	29		Breast(137;0.00314)		BRCA - Breast invasive adenocarcinoma(366;0.12)		CTCCAGGTAGCGCCCAGCACG	0.627											OREG0024443	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	30	37					0	0	1	0	0	T	41957259	C	T	41957259	3	4	81	1	0	0	0	0	1	0	0	0	9783	768	27	1	426	1	MPP2	17	41957259	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2028	41957259	39237951	12437	16053											
MPP2	4355	broad.mit.edu	37	17	41975705	41975705	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:41975705G>T	ENST00000269095.4	-	3	379	c.75C>A	c.(73-75)gcC>gcA	p.A25A	MPP2_ENST00000518766.1_Silent_p.A70A|MPP2_ENST00000523501.1_Silent_p.A14A|MPP2_ENST00000473246.1_5'UTR|MPP2_ENST00000536246.1_Silent_p.A14A|MPP2_ENST00000520305.1_Intron|MPP2_ENST00000461854.1_Silent_p.A25A|MPP2_ENST00000377184.3_Silent_p.A42A	NM_001278370.1|NM_001278381.1|NM_005374.3	NP_001265299.1|NP_001265310.1|NP_005365	Q14168	MPP2_HUMAN	membrane protein, palmitoylated 2 (MAGUK p55 subfamily member 2)	25	L27 1.				signal transduction	cell surface|integral to plasma membrane|membrane fraction	guanylate kinase activity			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(4)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)	29		Breast(137;0.00314)		BRCA - Breast invasive adenocarcinoma(366;0.12)		CAGCCCCCGTGGCACTGGGGA	0.577													19	24					2.4624e-09	2.97042e-09	1	1	0	T	41975705	G	T	41975705	2	4	81	1	0	0	0	0	0	0	0	1	9783	1335	47	5		5	MPP2	17	41975705	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	18446	41975705	39219505	12438	16054											
TMEM101	84336	broad.mit.edu	37	17	42090509	42090509	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:42090509C>T	ENST00000589334.1	-	4	648	c.333G>A	c.(331-333)tcG>tcA	p.S111S	TMEM101_ENST00000542039.1_Silent_p.S53S|TMEM101_ENST00000206380.3_Silent_p.S111S|TMEM101_ENST00000587529.1_Silent_p.S111S			Q96IK0	TM101_HUMAN	transmembrane protein 101	111					positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane	signal transducer activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		Breast(137;0.0264)|Prostate(33;0.0861)		BRCA - Breast invasive adenocarcinoma(366;0.113)		CAACTGTGCGCGAGTACATAC	0.632													10	16					0	0	1	0	0	T	42090509	C	T	42090509	2	4	81	1	0	0	0	0	0	0	0	1	16076	755	27	1		1	TMEM101	17	42090509	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	114804	42090509	39104701	12439	16055											
LSM12	124801	broad.mit.edu	37	17	42113579	42113579	+	Silent	SNP	G	G	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:42113579G>C	ENST00000591247.1	-	6	907	c.585C>G	c.(583-585)tcC>tcG	p.S195S	LSM12_ENST00000585388.1_3'UTR|LSM12_ENST00000293406.3_Silent_p.S195S	NM_152344.3	NP_689557.1	Q3MHD2	LSM12_HUMAN	LSM12 homolog (S. cerevisiae)	195							protein binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)	6		Breast(137;0.0313)|Prostate(33;0.0861)		BRCA - Breast invasive adenocarcinoma(366;0.115)		TACGGACTCAGGATGACAGGG	0.542													5	26					0	0	1	0	0	C	42113579	G	C	42113579	2	2	81	1	0	0	0	0	0	0	0	1	9098	987	35	4		4	LSM12	17	42113579	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	23070	42113579	39081631	12440	16056											
G6PC3	92579	broad.mit.edu	37	17	42153059	42153059	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:42153059T>C	ENST00000269097.4	+	6	920	c.689T>C	c.(688-690)cTa>cCa	p.L230P		NM_138387.3	NP_612396.1	Q9BUM1	G6PC3_HUMAN	glucose 6 phosphatase, catalytic, 3	230					gluconeogenesis|transmembrane transport	endoplasmic reticulum membrane|integral to membrane	glucose-6-phosphatase activity			endometrium(2)|large_intestine(5)|lung(1)|ovary(2)|skin(1)	11		Breast(137;0.00637)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.113)		TCCATCAGCCTAGCCTTCAAG	0.617													6	107					0	0	1	0	0	C	42153059	T	C	42153059	3	2	81	1	0	0	0	0	1	0	0	0	6180	1522	53	3	711	3	G6PC3	17	42153059	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	39480	42153059	39042151	12441	16057											
HDAC5	10014	broad.mit.edu	37	17	42168789	42168789	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:42168789C>T	ENST00000225983.6	-	11	1562	c.1239G>A	c.(1237-1239)acG>acA	p.T413T	HDAC5_ENST00000336057.5_Silent_p.T412T|HDAC5_ENST00000393622.2_Silent_p.T412T|HDAC5_ENST00000586802.1_Silent_p.T412T			Q9UQL6	HDAC5_HUMAN	histone deacetylase 5	412					B cell differentiation|cellular response to insulin stimulus|chromatin remodeling|chromatin silencing|inflammatory response|negative regulation of cell migration involved in sprouting angiogenesis|negative regulation of myotube differentiation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|transcription, DNA-dependent	cytoplasm|histone deacetylase complex	histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein kinase C binding|repressing transcription factor binding			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	21		Breast(137;0.00637)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.118)		TGCCGGTCAGCGTGCCACCCT	0.682													7	21					0	0	1	0	0	T	42168789	C	T	42168789	2	4	81	1	0	0	0	0	0	0	0	1	7051	755	27	1		1	HDAC5	17	42168789	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	15730	42168789	39026421	12442	16058											
HDAC5	10014	broad.mit.edu	37	17	42168852	42168852	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:42168852C>T	ENST00000225983.6	-	11	1499	c.1176G>A	c.(1174-1176)ccG>ccA	p.P392P	HDAC5_ENST00000336057.5_Silent_p.P391P|HDAC5_ENST00000393622.2_Silent_p.P391P|HDAC5_ENST00000586802.1_Silent_p.P391P			Q9UQL6	HDAC5_HUMAN	histone deacetylase 5	391					B cell differentiation|cellular response to insulin stimulus|chromatin remodeling|chromatin silencing|inflammatory response|negative regulation of cell migration involved in sprouting angiogenesis|negative regulation of myotube differentiation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|transcription, DNA-dependent	cytoplasm|histone deacetylase complex	histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein kinase C binding|repressing transcription factor binding			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	21		Breast(137;0.00637)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.118)		TCGACAGCTTCGGGGAGGCCT	0.617													4	18					0	0	1	0	0	T	42168852	C	T	42168852	2	4	81	1	0	0	0	0	0	0	0	1	7051	871	31	1		1	HDAC5	17	42168852	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	63	42168852	39026358	12443	16059											
C17orf53	78995	broad.mit.edu	37	17	42225804	42225804	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:42225804G>T	ENST00000319977.4	+	3	870	c.633G>T	c.(631-633)aaG>aaT	p.K211N	C17orf53_ENST00000585683.1_Missense_Mutation_p.K211N|C17orf53_ENST00000245382.6_Missense_Mutation_p.K211N	NM_001171251.1|NM_024032.3	NP_001164722.1|NP_076937.2	Q8N3J3	CQ053_HUMAN	chromosome 17 open reading frame 53	211										NS(1)|breast(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	22		Breast(137;0.0364)|Prostate(33;0.0376)		BRCA - Breast invasive adenocarcinoma(366;0.114)		CTTGCCAGAAGGGGCCTGTGC	0.562													9	110					7.48243e-07	8.64403e-07	1	1	0	T	42225804	G	T	42225804	3	4	81	1	0	0	0	0	1	0	0	0	1871	991	35	4	643	4	C17orf53	17	42225804	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	56952	42225804	38969406	12444	16060											
C17orf53	78995	broad.mit.edu	37	17	42226360	42226360	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:42226360C>T	ENST00000319977.4	+	3	1426	c.1189C>T	c.(1189-1191)Cgt>Tgt	p.R397C	C17orf53_ENST00000585683.1_Missense_Mutation_p.R397C|C17orf53_ENST00000245382.6_Missense_Mutation_p.R397C	NM_001171251.1|NM_024032.3	NP_001164722.1|NP_076937.2	Q8N3J3	CQ053_HUMAN	chromosome 17 open reading frame 53	397										NS(1)|breast(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	22		Breast(137;0.0364)|Prostate(33;0.0376)		BRCA - Breast invasive adenocarcinoma(366;0.114)		CAAAACTCGCCGTTTCCCTGG	0.617													18	36					0	0	1	0	0	T	42226360	C	T	42226360	3	4	81	1	0	0	0	0	1	0	0	0	1871	652	23	1	1199	1	C17orf53	17	42226360	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	556	42226360	38968850	12445	16061											
TMUB2	79089	broad.mit.edu	37	17	42266537	42266537	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:42266537C>T	ENST00000319511.6	+	2	773	c.123C>T	c.(121-123)agC>agT	p.S41S	TMUB2_ENST00000589856.1_Silent_p.S41S|TMUB2_ENST00000592825.1_Silent_p.S41S|TMUB2_ENST00000589184.1_Intron|TMUB2_ENST00000587989.1_Silent_p.S61S|TMUB2_ENST00000590235.1_Silent_p.S41S|TMUB2_ENST00000589785.1_Silent_p.S41S|TMUB2_ENST00000587172.1_Silent_p.S41S|TMUB2_ENST00000446571.3_Silent_p.S41S|TMUB2_ENST00000538716.2_Silent_p.S61S|TMUB2_ENST00000357984.3_Silent_p.S41S	NM_177441.2	NP_803190.2	Q71RG4	TMUB2_HUMAN	transmembrane and ubiquitin-like domain containing 2	61						integral to membrane				endometrium(2)|kidney(2)|large_intestine(1)|lung(3)	8		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.113)		TAGCAGACAGCGGTAGCAACC	0.597													24	56					0	0	1	0	0	T	42266537	C	T	42266537	2	4	81	1	0	0	0	0	0	0	0	1	16325	767	27	1		1	TMUB2	17	42266537	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	40177	42266537	38928673	12446	16062											
UBTF	7343	broad.mit.edu	37	17	42289051	42289051	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:42289051G>A	ENST00000302904.4	-	10	1462	c.970C>T	c.(970-972)Cgc>Tgc	p.R324C	CTB-175E5.7_ENST00000586560.1_RNA|UBTF_ENST00000393606.3_Missense_Mutation_p.R287C|UBTF_ENST00000529383.1_Missense_Mutation_p.R324C|UBTF_ENST00000533177.1_Missense_Mutation_p.R287C|UBTF_ENST00000527034.1_Missense_Mutation_p.R287C|UBTF_ENST00000436088.1_Missense_Mutation_p.R324C|UBTF_ENST00000343638.5_Missense_Mutation_p.R287C|UBTF_ENST00000526094.1_Missense_Mutation_p.R287C			P17480	UBF1_HUMAN	upstream binding transcription factor, RNA polymerase I	324					positive regulation of transcription from RNA polymerase I promoter|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleolus|nucleoplasm	DNA binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(10)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.114)		AGCACCATGCGCTCTGTGCTG	0.602													25	33					0	0	1	0	0	A	42289051	G	A	42289051	3	1	81	1	0	0	0	0	1	0	0	0	16970	1087	38	1	1372	1	UBTF	17	42289051	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	22514	42289051	38906159	12447	16063											
SLC4A1	6521	broad.mit.edu	37	17	42334864	42334864	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:42334864C>T	ENST00000262418.6	-	13	1635	c.1480G>A	c.(1480-1482)Ggc>Agc	p.G494S		NM_000342.3	NP_000333.1	P02730	B3AT_HUMAN	solute carrier family 4 (anion exchanger), member 1	494	Membrane (anion exchange).				bicarbonate transport|cellular ion homeostasis	basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity	p.G494S(1)		central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		AGCCAGAAGCCGATCCACACG	0.587													13	38					0	0	1	0	0	T	42334864	C	T	42334864	3	4	81	1	0	0	0	0	1	0	0	0	14705	652	23	1	1287	1	SLC4A1	17	42334864	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	45813	42334864	38860346	12448	16064											
SLC4A1	6521	broad.mit.edu	37	17	42335492	42335492	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:42335492G>T	ENST00000262418.6	-	11	1299	c.1144C>A	c.(1144-1146)Ctg>Atg	p.L382M	AC003043.1_ENST00000597382.1_Intron	NM_000342.3	NP_000333.1	P02730	B3AT_HUMAN	solute carrier family 4 (anion exchanger), member 1	382					bicarbonate transport|cellular ion homeostasis	basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		TCACGCACCAGGCCCCCGAAG	0.582													44	85					1.61004e-24	2.1256e-24	1	1	0	T	42335492	G	T	42335492	3	4	81	1	0	0	0	0	1	0	0	0	14705	991	35	4	1631	4	SLC4A1	17	42335492	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	628	42335492	38859718	12449	16065											
SLC4A1	6521	broad.mit.edu	37	17	42338163	42338163	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:42338163C>A	ENST00000262418.6	-	5	344	c.189G>T	c.(187-189)gaG>gaT	p.E63D	SLC4A1_ENST00000471005.1_5'UTR|AC003043.1_ENST00000597382.1_Intron	NM_000342.3	NP_000333.1	P02730	B3AT_HUMAN	solute carrier family 4 (anion exchanger), member 1	63					bicarbonate transport|cellular ion homeostasis	basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		CCATCACCAGCTCCTGCAGCT	0.617													4	30					1	1	1	1	0	A	42338163	C	A	42338163	3	1	81	1	0	0	0	0	1	0	0	0	14705	796	28	4	2610	4	SLC4A1	17	42338163	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2671	42338163	38857047	12450	16066											
RUNDC3A	10900	broad.mit.edu	37	17	42392184	42392184	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:42392184C>T	ENST00000426726.3	+	5	814	c.540C>T	c.(538-540)atC>atT	p.I180I	RUNDC3A_ENST00000225441.7_Silent_p.I180I|AC003102.3_ENST00000588097.1_RNA|RUNDC3A_ENST00000590941.1_Silent_p.I175I	NM_001144825.1	NP_001138297.1	Q59EK9	RUN3A_HUMAN	RUN domain containing 3A	180	Interaction with RAP2A (By similarity).|RUN.				small GTPase mediated signal transduction		small GTPase regulator activity			large_intestine(1)|lung(1)|ovary(2)	4		Prostate(33;0.0233)		BRCA - Breast invasive adenocarcinoma(366;0.189)		TGAGCGCCATCGACTTCAGGT	0.612													7	18					0	0	1	0	0	T	42392184	C	T	42392184	2	4	81	1	0	0	0	0	0	0	0	1	13796	874	31	1		1	RUNDC3A	17	42392184	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	54021	42392184	38803026	12451	16067											
GPATCH8	23131	broad.mit.edu	37	17	42474972	42474972	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:42474972A>G	ENST00000434000.1	-	9	4521	c.4239T>C	c.(4237-4239)ggT>ggC	p.G1413G	GPATCH8_ENST00000591680.1_Silent_p.G1491G			Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	1491						intracellular	nucleic acid binding|zinc ion binding			breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		GCAGGTCCTGACCTGAGAAGA	0.602													6	29					0	0	1	0	0	G	42474972	A	G	42474972	2	3	81	1	0	0	0	0	0	0	0	1	6634	262	10	3		3	GPATCH8	17	42474972	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	82788	42474972	38720238	12452	16068											
GPATCH8	23131	broad.mit.edu	37	17	42477443	42477443	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:42477443G>A	ENST00000434000.1	-	9	2050	c.1768C>T	c.(1768-1770)Cga>Tga	p.R590*	GPATCH8_ENST00000591680.1_Nonsense_Mutation_p.R668*			Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	668						intracellular	nucleic acid binding|zinc ion binding			breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		TTCCCAGATCGTTCTTTCTTG	0.498													47	85					0	0	1	0	0	A	42477443	G	A	42477443	4	1	81	1	0	0	0	0	0	1	0	0	6634	1153	40	1	2510	1	GPATCH8	17	42477443	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2471	42477443	38717767	12453	16069											
FZD2	2535	broad.mit.edu	37	17	42636613	42636613	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:42636613G>A	ENST00000315323.3	+	1	1689	c.1557G>A	c.(1555-1557)acG>acA	p.T519T		NM_001466.3	NP_001457.1	Q14332	FZD2_HUMAN	frizzled family receptor 2	519					axonogenesis|brain development|canonical Wnt receptor signaling pathway|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|positive regulation of cGMP metabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(8)	33		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		CCGACTTCACGGTCTACATGA	0.622													5	11					0	0	1	0	0	A	42636613	G	A	42636613	2	1	81	1	0	0	0	0	0	0	0	1	6165	1103	39	1		1	FZD2	17	42636613	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	159170	42636613	38558597	12454	16070											
DBF4B	80174	broad.mit.edu	37	17	42807456	42807456	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:42807456G>A	ENST00000315005.3	+	4	547	c.409G>A	c.(409-411)Gtt>Att	p.V137I	DBF4B_ENST00000398338.3_Missense_Mutation_p.V137I|DBF4B_ENST00000393547.2_Missense_Mutation_p.V137I|DBF4B_ENST00000526915.1_3'UTR	NM_145663.2	NP_663696.1	Q8NFT6	DBF4B_HUMAN	DBF4 homolog B (S. cerevisiae)	137					cell cycle	nucleus	nucleic acid binding|zinc ion binding			kidney(1)|large_intestine(1)|lung(5)	7		Prostate(33;0.0322)				ACGGAAACCCGTTGACTCGGT	0.507													19	30					0	0	1	0	0	A	42807456	G	A	42807456	3	1	81	1	0	0	0	0	1	0	0	0	4273	1145	40	1	423	1	DBF4B	17	42807456	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	170843	42807456	38387754	12455	16071											
EFTUD2	9343	broad.mit.edu	37	17	42942371	42942371	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:42942371C>T	ENST00000426333.2	-	14	1509	c.1212G>A	c.(1210-1212)acG>acA	p.T404T	EFTUD2_ENST00000592576.1_Silent_p.T394T|EFTUD2_ENST00000402521.3_Silent_p.T369T|EFTUD2_ENST00000591382.1_Silent_p.T404T	NM_001142605.1|NM_001258354.1|NM_004247.3	NP_001136077.1|NP_001245283.1|NP_004238.3	Q15029	U5S1_HUMAN	elongation factor Tu GTP binding domain containing 2	404						Cajal body|catalytic step 2 spliceosome|cytoplasm|nuclear speck	GTP binding|GTPase activity|protein binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	32		Prostate(33;0.109)				GCTCCTCCTTCGTCAGGTGGA	0.547											OREG0024466	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	23	47					0	0	1	0	0	T	42942371	C	T	42942371	2	4	81	1	0	0	0	0	0	0	0	1	4987	871	31	1		1	EFTUD2	17	42942371	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	134915	42942371	38252839	12456	16072											
GFAP	2670	broad.mit.edu	37	17	42992534	42992534	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:42992534C>A	ENST00000253408.5	-	1	386	c.321G>T	c.(319-321)aaG>aaT	p.K107N	GFAP_ENST00000435360.2_Missense_Mutation_p.K107N|GFAP_ENST00000586793.1_Missense_Mutation_p.K107N|GFAP_ENST00000588735.1_Intron|GFAP_ENST00000591327.1_5'UTR	NM_002055.4	NP_002046.1	P14136	GFAP_HUMAN	glial fibrillary acidic protein	107	Linker 1.|Rod.					cytoplasm|intermediate filament	structural constituent of cytoskeleton			endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(11)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23		Prostate(33;0.0959)				TGGTGGGCTCCTTGGCCCGCA	0.617													17	46					0.00498961	0.00522581	1	1	0	A	42992534	C	A	42992534	3	1	81	1	0	0	0	0	1	0	0	0	6379	680	24	4	1142	4	GFAP	17	42992534	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	50163	42992534	38202676	12457	16073											
KIF18B	146909	broad.mit.edu	37	17	43013610	43013610	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:43013610C>T	ENST00000587309.1	-	2	126	c.103G>A	c.(103-105)Gag>Aag	p.E35K	KIF18B_ENST00000339151.4_Missense_Mutation_p.E35K|KIF18B_ENST00000593135.1_Missense_Mutation_p.E35K|KIF18B_ENST00000590129.1_Missense_Mutation_p.E44K|KIF18B_ENST00000438933.2_Missense_Mutation_p.E35K	NM_001264573.1	NP_001251503.1			kinesin family member 18B											breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	21		Prostate(33;0.155)				AGCACCCGCTCGTCCACCACC	0.647													3	5					0	0	1	0	0	T	43013610	C	T	43013610	3	4	81	1	0	0	0	0	1	0	0	0	8323	893	31	1	2523	1	KIF18B	17	43013610	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	21076	43013610	38181600	12458	16074											
DCAKD	79877	broad.mit.edu	37	17	43111732	43111732	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:43111732G>A	ENST00000452796.2	-	2	394	c.139C>T	c.(139-141)Cgg>Tgg	p.R47W	DCAKD_ENST00000310604.4_Missense_Mutation_p.R47W|DCAKD_ENST00000588295.1_5'UTR|DCAKD_ENST00000588499.1_Missense_Mutation_p.R47W|DCAKD_ENST00000342350.5_Missense_Mutation_p.R47W			Q8WVC6	DCAKD_HUMAN	dephospho-CoA kinase domain containing	47	DPCK.				coenzyme A biosynthetic process		ATP binding|dephospho-CoA kinase activity			cervix(1)|endometrium(1)|large_intestine(1)|lung(2)|skin(1)	6		Prostate(33;0.155)				ACGATGCGCCGGTGGGCAGGG	0.617													6	30					0	0	1	0	0	A	43111732	G	A	43111732	3	1	81	1	0	0	0	0	1	0	0	0	4302	1115	39	1	568	1	DCAKD	17	43111732	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	98122	43111732	38083478	12459	16075											
NMT1	4836	broad.mit.edu	37	17	43180480	43180480	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:43180480C>T	ENST00000592782.1	+	10	1286	c.1155C>T	c.(1153-1155)ttC>ttT	p.F385F	NMT1_ENST00000258960.2_Silent_p.F385F			P30419	NMT1_HUMAN	N-myristoyltransferase 1	385					activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals|N-terminal protein myristoylation|protein lipoylation	actin cytoskeleton|cell junction|cytosol	glycylpeptide N-tetradecanoyltransferase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)	8		Prostate(33;0.155)				TCGACACTTTCGTGGTGGAGG	0.577													19	54					0	0	1	0	0	T	43180480	C	T	43180480	2	4	81	1	0	0	0	0	0	0	0	1	10550	883	31	1		1	NMT1	17	43180480	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	68748	43180480	38014730	12460	16076											
PLCD3	113026	broad.mit.edu	37	17	43190527	43190527	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:43190527G>A	ENST00000322765.5	-	14	2204	c.2091C>T	c.(2089-2091)gaC>gaT	p.D697D	PLCD3_ENST00000540511.1_5'UTR	NM_133373.3	NP_588614.1	Q8N3E9	PLCD3_HUMAN	phospholipase C, delta 3	698	C2.				intracellular signal transduction|lipid catabolic process	cleavage furrow|cytoplasm|membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(2)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)|stomach(2)|urinary_tract(2)	17					Phosphatidylserine(DB00144)	GCCGGGCACAGTCTGCGGGCA	0.627													5	5					0	0	1	0	0	A	43190527	G	A	43190527	2	1	81	1	0	0	0	0	0	0	0	1	12080	1020	36	2		2	PLCD3	17	43190527	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	10047	43190527	38004683	12461	16077											
HEXIM1	10614	broad.mit.edu	37	17	43227297	43227297	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:43227297A>G	ENST00000332499.2	+	1	2614	c.740A>G	c.(739-741)gAg>gGg	p.E247G		NM_006460.2	NP_006451.1	O94992	HEXI1_HUMAN	hexamethylene bis-acetamide inducible 1	247	Autoinhibitory acidic region; in absence of 7SK snRNA interacts with the basic region preventing interaction with P-TEFb and modulating subcellular localization.				negative regulation of cyclin-dependent protein kinase activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	cyclin-dependent protein kinase inhibitor activity|protein binding|snRNA binding			breast(1)|kidney(2)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						GAAGGGGGTGAGGAGGATGGG	0.637													4	37					0	0	1	0	0	G	43227297	A	G	43227297	3	3	81	1	0	0	0	0	1	0	0	0	7117	304	11	3	742	3	HEXIM1	17	43227297	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	36770	43227297	37967913	12462	16078											
FMNL1	752	broad.mit.edu	37	17	43320643	43320643	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:43320643G>T	ENST00000331495.3	+	17	2505	c.2169G>T	c.(2167-2169)cgG>cgT	p.R723R	FMNL1_ENST00000587489.1_Silent_p.R301R|FMNL1_ENST00000328118.3_Silent_p.R723R	NM_005892.3	NP_005883	O95466	FMNL_HUMAN	formin-like 1	723	FH2.				actin cytoskeleton organization		actin binding|Rho GTPase binding			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(12)|pancreas(1)|skin(1)|urinary_tract(2)	33						TCACCCTGCGGAAGGGCAACC	0.637													8	60					1.12685e-05	1.27052e-05	1	1	0	T	43320643	G	T	43320643	2	4	81	1	0	0	0	0	0	0	0	1	5984	1161	41	5		5	FMNL1	17	43320643	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	93346	43320643	37874567	12463	16079											
FMNL1	752	broad.mit.edu	37	17	43322423	43322423	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:43322423G>A	ENST00000331495.3	+	21	3012	c.2676G>A	c.(2674-2676)ccG>ccA	p.P892P	FMNL1_ENST00000587489.1_Silent_p.P470P|FMNL1_ENST00000328118.3_Silent_p.P892P	NM_005892.3	NP_005883	O95466	FMNL_HUMAN	formin-like 1	892	FH2.				actin cytoskeleton organization		actin binding|Rho GTPase binding			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(12)|pancreas(1)|skin(1)|urinary_tract(2)	33						AGAAGTACCCGCAACTCACAG	0.587													25	24					0	0	1	0	0	A	43322423	G	A	43322423	2	1	81	1	0	0	0	0	0	0	0	1	5984	1074	38	1		1	FMNL1	17	43322423	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1780	43322423	37872787	12464	16080											
MAP3K14	9020	broad.mit.edu	37	17	43343970	43343970	+	RNA	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:43343970G>A	ENST00000344686.2	-	0	2617				MAP3K14-AS1_ENST00000591263.1_RNA|MAP3K14-AS1_ENST00000588698.1_RNA|MAP3K14-AS1_ENST00000590100.1_RNA|MAP3K14-AS1_ENST00000585351.1_RNA|MAP3K14-AS1_ENST00000592422.1_RNA|MAP3K14-AS1_ENST00000586450.1_RNA|MAP3K14-AS1_ENST00000585346.1_RNA|MAP3K14-AS1_ENST00000588504.1_RNA|MAP3K14-AS1_ENST00000585780.1_RNA|MAP3K14-AS1_ENST00000588160.1_RNA			Q99558	M3K14_HUMAN	mitogen-activated protein kinase kinase kinase 14						cellular response to mechanical stimulus|I-kappaB kinase/NF-kappaB cascade|immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|T cell costimulation	cytosol	ATP binding|MAP kinase kinase kinase activity|NF-kappaB-inducing kinase activity|protein binding			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27						CTGGAGCTTCGAGCCTCGGCC	0.607													43	78					0	0	1	0	0	A	43343970	G	A	43343970	1	1	81	0	1	0	0	0	0	0	0	0	9298	1066	37	1		1	MAP3K14	17	43343970	RNA	SNP	G	TCGA-DU-6392-01A-11D-1705-08	21547	43343970	37851240	12465	16081											
PLEKHM1	9842	broad.mit.edu	37	17	43531164	43531164	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:43531164A>G	ENST00000430334.3	-	7	2187	c.2054T>C	c.(2053-2055)aTc>aCc	p.I685T	AC091132.1_ENST00000433601.1_RNA|PLEKHM1_ENST00000421073.2_Missense_Mutation_p.I596T	NM_014798.2	NP_055613.1	Q9Y4G2	PKHM1_HUMAN	pleckstrin homology domain containing, family M (with RUN domain) member 1	685	PH 2.				intracellular signal transduction	cytoplasm	metal ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26	Renal(3;0.0405)					GGACTCCTTGATGGCATCTGG	0.567													26	47					0	0	1	0	0	G	43531164	A	G	43531164	3	3	81	1	0	0	0	0	1	0	0	0	12128	333	12	3	1140	3	PLEKHM1	17	43531164	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	187194	43531164	37664046	12466	16082											
PLEKHM1	9842	broad.mit.edu	37	17	43531380	43531380	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:43531380G>A	ENST00000430334.3	-	7	1971	c.1838C>T	c.(1837-1839)gCt>gTt	p.A613V	AC091132.1_ENST00000433601.1_RNA|PLEKHM1_ENST00000421073.2_Missense_Mutation_p.A524V	NM_014798.2	NP_055613.1	Q9Y4G2	PKHM1_HUMAN	pleckstrin homology domain containing, family M (with RUN domain) member 1	613	PH 1.				intracellular signal transduction	cytoplasm	metal ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26	Renal(3;0.0405)					CCAGTCCTCAGCTTCGTCCTG	0.642													9	22					0	0	1	0	0	A	43531380	G	A	43531380	3	1	81	1	0	0	0	0	1	0	0	0	12128	971	34	2	1356	2	PLEKHM1	17	43531380	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	216	43531380	37663830	12467	16083											
NSF	4905	broad.mit.edu	37	17	44788360	44788360	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:44788360G>A	ENST00000398238.4	+	14	1609	c.1502G>A	c.(1501-1503)aGt>aAt	p.S501N	NSF_ENST00000575068.1_Missense_Mutation_p.S496N|NSF_ENST00000225282.8_Missense_Mutation_p.S407N	NM_006178.3	NP_006169.2	P46459	NSF_HUMAN	N-ethylmaleimide-sensitive factor	501					protein transport|synaptic transmission	cytosol	ATP binding|metal ion binding			kidney(2)|large_intestine(1)|liver(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	14		Melanoma(429;0.203)	BRCA - Breast invasive adenocarcinoma(9;0.0257)	BRCA - Breast invasive adenocarcinoma(366;0.241)		GATTATGCAAGTTACATTATG	0.413													32	47					0	0	1	0	0	A	44788360	G	A	44788360	3	1	81	1	0	0	0	0	1	0	0	0	10719	1029	36	2	1556	2	NSF	17	44788360	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1256980	44788360	36406850	12468	16084											
NSF	4905	broad.mit.edu	37	17	44791260	44791260	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:44791260G>A	ENST00000398238.4	+	15	1776	c.1669G>A	c.(1669-1671)Gca>Aca	p.A557T	NSF_ENST00000575068.1_Missense_Mutation_p.A552T|NSF_ENST00000225282.8_Missense_Mutation_p.A463T	NM_006178.3	NP_006169.2	P46459	NSF_HUMAN	N-ethylmaleimide-sensitive factor	557					protein transport|synaptic transmission	cytosol	ATP binding|metal ion binding			kidney(2)|large_intestine(1)|liver(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	14		Melanoma(429;0.203)	BRCA - Breast invasive adenocarcinoma(9;0.0257)	BRCA - Breast invasive adenocarcinoma(366;0.241)		TGCAAAAATTGCAGAGGAATC	0.428													9	26					0	0	1	0	0	A	44791260	G	A	44791260	3	1	81	1	0	0	0	0	1	0	0	0	10719	1319	46	2	1727	2	NSF	17	44791260	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2900	44791260	36403950	12469	16085											
NSF	4905	broad.mit.edu	37	17	44806225	44806225	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:44806225C>T	ENST00000398238.4	+	17	1940	c.1833C>T	c.(1831-1833)taC>taT	p.Y611Y	NSF_ENST00000575068.1_Silent_p.Y606Y|NSF_ENST00000225282.8_Silent_p.Y517Y	NM_006178.3	NP_006169.2	P46459	NSF_HUMAN	N-ethylmaleimide-sensitive factor	611					protein transport|synaptic transmission	cytosol	ATP binding|metal ion binding	p.Y611Y(1)		kidney(2)|large_intestine(1)|liver(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	14		Melanoma(429;0.203)	BRCA - Breast invasive adenocarcinoma(9;0.0257)	BRCA - Breast invasive adenocarcinoma(366;0.241)		TTCCAGATTACGTCCCTATTG	0.318													26	52					0	0	1	0	0	T	44806225	C	T	44806225	2	4	81	1	0	0	0	0	0	0	0	1	10719	547	19	1		1	NSF	17	44806225	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	14965	44806225	36388985	12470	16086											
WNT3	7473	broad.mit.edu	37	17	44845839	44845839	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:44845839G>A	ENST00000225512.5	-	4	1077	c.915C>T	c.(913-915)caC>caT	p.H305H		NM_030753.4	NP_110380.1	P56703	WNT3_HUMAN	wingless-type MMTV integration site family, member 3	305					canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|cellular response to retinoic acid|dorsal/ventral axis specification|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic pattern specification|head morphogenesis|hemopoietic stem cell proliferation|inner ear morphogenesis|limb bud formation|mammary gland epithelium development|mesoderm formation|midbrain-hindbrain boundary development|negative regulation of fat cell differentiation|positive regulation of cell proliferation|Spemann organizer formation at the anterior end of the primitive streak|Wnt receptor signaling pathway, calcium modulating pathway	early endosome|extracellular space|late endosome|membrane fraction|membrane raft|plasma membrane|proteinaceous extracellular matrix	frizzled binding|frizzled-2 binding|signal transducer activity			endometrium(2)|large_intestine(6)|lung(4)|prostate(1)	13			BRCA - Breast invasive adenocarcinoma(9;0.0257)			CATCGATGCCGTGGGAGGTGA	0.587													14	115					0	0	1	0	0	A	44845839	G	A	44845839	2	1	81	1	0	0	0	0	0	0	0	1	17448	1136	40	1		1	WNT3	17	44845839	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	39614	44845839	36349371	12471	16087											
CDC27	996	broad.mit.edu	37	17	45232100	45232100	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:45232100G>A	ENST00000066544.3	-	8	988	c.895C>T	c.(895-897)Caa>Taa	p.Q299*	CDC27_ENST00000527547.1_Nonsense_Mutation_p.Q299*|CDC27_ENST00000531206.1_Nonsense_Mutation_p.Q299*|CDC27_ENST00000446365.2_Nonsense_Mutation_p.Q238*	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	299					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						GTGTAGTTTTGTAAATAGGAT	0.388													11	15					0	0	1	0	0	A	45232100	G	A	45232100	4	1	81	1	0	0	0	0	0	1	0	0	3088	1386	48	2	1645	2	CDC27	17	45232100	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	386261	45232100	35963110	12472	16088											
ITGB3	3690	broad.mit.edu	37	17	45361952	45361952	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:45361952C>T	ENST00000559488.1	+	4	521	c.505C>T	c.(505-507)Cga>Tga	p.R169*	ITGB3_ENST00000560629.1_Missense_Mutation_p.A157V|ITGB3_ENST00000571680.1_Nonsense_Mutation_p.R169*|ITGB3_ENST00000435993.2_Nonsense_Mutation_p.R122*	NM_000212.2	NP_000203.2	P05106	ITB3_HUMAN	integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	169	VWFA.		R -> Q (in alloantigen HPA-4B; dbSNP:rs5917).		activation of protein kinase activity|angiogenesis involved in wound healing|axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|platelet activation|platelet degranulation|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|regulation of bone resorption|smooth muscle cell migration|tube development	alphav-beta3 integrin-vitronectin complex|integrin complex|platelet alpha granule membrane	cell adhesion molecule binding|identical protein binding|platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	39					Abciximab(DB00054)|Tirofiban(DB00775)	CACCCAGATGCGAAAGCTCAC	0.527													40	68					0	0	1	0	0	T	45361952	C	T	45361952	4	4	81	1	0	0	0	0	0	1	0	0	7939	760	27	1	519	1	ITGB3	17	45361952	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	129852	45361952	35833258	12473	16089											
ITGB3	3690	broad.mit.edu	37	17	45367564	45367564	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:45367564T>C	ENST00000559488.1	+	8	1065	c.1049T>C	c.(1048-1050)cTc>cCc	p.L350P	ITGB3_ENST00000560629.1_Silent_p.A338A|ITGB3_ENST00000571680.1_Missense_Mutation_p.L350P|ITGB3_ENST00000435993.2_Missense_Mutation_p.L303P	NM_000212.2	NP_000203.2	P05106	ITB3_HUMAN	integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	350	VWFA.				activation of protein kinase activity|angiogenesis involved in wound healing|axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|platelet activation|platelet degranulation|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|regulation of bone resorption|smooth muscle cell migration|tube development	alphav-beta3 integrin-vitronectin complex|integrin complex|platelet alpha granule membrane	cell adhesion molecule binding|identical protein binding|platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	39					Abciximab(DB00054)|Tirofiban(DB00775)	TATAGTGAGCTCATCCCAGGG	0.493													36	72					0	0	1	0	0	C	45367564	T	C	45367564	3	2	81	1	0	0	0	0	1	0	0	0	7939	1551	54	3	1079	3	ITGB3	17	45367564	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	5612	45367564	35827646	12474	16090											
OSBPL7	114881	broad.mit.edu	37	17	45885670	45885670	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:45885670G>A	ENST00000007414.3	-	23	2707	c.2516C>T	c.(2515-2517)gCc>gTc	p.A839V	OSBPL7_ENST00000392507.3_Missense_Mutation_p.A839V	NM_145798.2	NP_665741.1	Q9BZF2	OSBL7_HUMAN	oxysterol binding protein-like 7	839					lipid transport		lipid binding			autonomic_ganglia(1)|endometrium(6)|kidney(2)|large_intestine(5)|liver(2)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32						CCAGAGCACGGCCCCATCCAT	0.662													7	7					0	0	1	0	0	A	45885670	G	A	45885670	3	1	81	1	0	0	0	0	1	0	0	0	11329	1203	42	2	16	2	OSBPL7	17	45885670	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	518106	45885670	35309540	12475	16091											
OSBPL7	114881	broad.mit.edu	37	17	45886548	45886548	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:45886548G>A	ENST00000007414.3	-	20	2255	c.2064C>T	c.(2062-2064)ggC>ggT	p.G688G	OSBPL7_ENST00000392507.3_Silent_p.G688G	NM_145798.2	NP_665741.1	Q9BZF2	OSBL7_HUMAN	oxysterol binding protein-like 7	688					lipid transport		lipid binding	p.G688G(1)		autonomic_ganglia(1)|endometrium(6)|kidney(2)|large_intestine(5)|liver(2)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32						TGAGCACAGCGCCCTGCACCT	0.647													23	30					0	0	1	0	0	A	45886548	G	A	45886548	2	1	81	1	0	0	0	0	0	0	0	1	11329	1074	38	1		1	OSBPL7	17	45886548	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	878	45886548	35308662	12476	16092											
OSBPL7	114881	broad.mit.edu	37	17	45890677	45890677	+	Silent	SNP	G	G	A	rs139168515	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:45890677G>A	ENST00000007414.3	-	16	1883	c.1692C>T	c.(1690-1692)taC>taT	p.Y564Y	OSBPL7_ENST00000392507.3_Silent_p.Y564Y	NM_145798.2	NP_665741.1	Q9BZF2	OSBL7_HUMAN	oxysterol binding protein-like 7	564					lipid transport		lipid binding			autonomic_ganglia(1)|endometrium(6)|kidney(2)|large_intestine(5)|liver(2)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32						GCTCACACTCGTAGGTCTCCC	0.627													19	21					0	0	1	0	0	A	45890677	G	A	45890677	2	1	81	1	0	0	0	0	0	0	0	1	11329	1140	40	1		1	OSBPL7	17	45890677	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	4129	45890677	35304533	12477	16093											
MRPL10	124995	broad.mit.edu	37	17	45904016	45904016	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:45904016G>T	ENST00000290208.7	-	4	1001	c.549C>A	c.(547-549)ttC>ttA	p.F183L	MRPL10_ENST00000351111.2_Missense_Mutation_p.F173L|MRPL10_ENST00000414011.1_Missense_Mutation_p.F183L			Q7Z7H8	RM10_HUMAN	mitochondrial ribosomal protein L10	173					ribosome biogenesis|translation	mitochondrial large ribosomal subunit	structural constituent of ribosome			endometrium(3)|large_intestine(1)|lung(3)|ovary(1)	8						GCAGCGGCAGGAATGGCACAG	0.557													24	39					1.1804e-14	1.50034e-14	1	1	0	T	45904016	G	T	45904016	3	4	81	1	0	0	0	0	1	0	0	0	9824	1165	41	5	274	5	MRPL10	17	45904016	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	13339	45904016	35291194	12478	16094											
LRRC46	90506	broad.mit.edu	37	17	45914418	45914418	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:45914418G>A	ENST00000269025.4	+	8	1261	c.898G>A	c.(898-900)Gcc>Acc	p.A300T		NM_033413.3	NP_219481.1	Q96FV0	LRC46_HUMAN	leucine rich repeat containing 46	300										endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)	9						AGCAGCCACAGCCCCCAAGGC	0.572													42	63					0	0	1	0	0	A	45914418	G	A	45914418	3	1	81	1	0	0	0	0	1	0	0	0	9048	971	34	2	928	2	LRRC46	17	45914418	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	10402	45914418	35280792	12479	16095											
SCRN2	90507	broad.mit.edu	37	17	45916866	45916866	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:45916866G>A	ENST00000407215.3	-	4	581	c.500C>T	c.(499-501)aCt>aTt	p.T167I	SCRN2_ENST00000584123.1_Missense_Mutation_p.T175I|SCRN2_ENST00000290216.9_Missense_Mutation_p.T167I			Q96FV2	SCRN2_HUMAN	secernin 2	167					proteolysis		dipeptidase activity			cervix(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	14						CCACGCCTCAGTGCGGTCAGC	0.607													6	96					0	0	1	0	0	A	45916866	G	A	45916866	3	1	81	1	0	0	0	0	1	0	0	0	13993	1029	36	2	815	2	SCRN2	17	45916866	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2448	45916866	35278344	12480	16096											
SP6	80320	broad.mit.edu	37	17	45924776	45924776	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:45924776C>A	ENST00000536300.1	-	2	1351	c.1020G>T	c.(1018-1020)aaG>aaT	p.K340N	SP6_ENST00000342234.2_Missense_Mutation_p.K340N	NM_001258248.1	NP_001245177.1	Q3SY56	SP6_HUMAN	Sp6 transcription factor	340					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|lung(5)|prostate(1)|skin(1)	8						CCGCCTCCTCCTTGGCGCCCT	0.706													9	11					0.00448238	0.00470627	1	1	0	A	45924776	C	A	45924776	3	1	81	1	0	0	0	0	1	0	0	0	15022	680	24	4	114	4	SP6	17	45924776	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	7910	45924776	35270434	12481	16097											
SKAP1	8631	broad.mit.edu	37	17	46262119	46262119	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:46262119A>C	ENST00000336915.6	-	7	602	c.533T>G	c.(532-534)tTt>tGt	p.F178C	SKAP1_ENST00000584924.1_Missense_Mutation_p.F178C	NM_001075099.1|NM_003726.3	NP_001068567.1|NP_003717.3	Q86WV1	SKAP1_HUMAN	src kinase associated phosphoprotein 1	178	PH.				positive regulation of transcription from RNA polymerase II promoter|T cell receptor signaling pathway	cytoplasm|nucleus|plasma membrane	antigen binding|protein kinase binding|SH2 domain binding			large_intestine(1)|lung(10)|prostate(2)|skin(4)|urinary_tract(1)	18						GGTCAGTTCAAAGCAGGATTC	0.522													60	96					0	0	1	0	0	C	46262119	A	C	46262119	3	2	81	1	0	0	0	0	1	0	0	0	14410	14	1	5	570	5	SKAP1	17	46262119	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	337343	46262119	34933091	12482	16098											
SKAP1	8631	broad.mit.edu	37	17	46423329	46423329	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:46423329C>T	ENST00000336915.6	-	4	287	c.218G>A	c.(217-219)aGc>aAc	p.S73N	SKAP1_ENST00000584924.1_Missense_Mutation_p.S73N	NM_001075099.1|NM_003726.3	NP_001068567.1|NP_003717.3	Q86WV1	SKAP1_HUMAN	src kinase associated phosphoprotein 1	73					positive regulation of transcription from RNA polymerase II promoter|T cell receptor signaling pathway	cytoplasm|nucleus|plasma membrane	antigen binding|protein kinase binding|SH2 domain binding			large_intestine(1)|lung(10)|prostate(2)|skin(4)|urinary_tract(1)	18						AAGAGTCCCGCTGTGATTATC	0.448													13	11					0	0	1	0	0	T	46423329	C	T	46423329	3	4	81	1	0	0	0	0	1	0	0	0	14410	797	28	2	897	2	SKAP1	17	46423329	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	161210	46423329	34771881	12483	16099											
HOXB4	3214	broad.mit.edu	37	17	46654355	46654355	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:46654355G>T	ENST00000332503.5	-	2	2276	c.485C>A	c.(484-486)cCc>cAc	p.P162H	HOXB3_ENST00000552000.2_Intron|HOXB-AS3_ENST00000465846.2_RNA|HOXB3_ENST00000498678.1_Intron|HOXB3_ENST00000460160.1_Intron|HOXB3_ENST00000465120.3_Intron|HOXB3_ENST00000489475.1_Intron|HOXB3_ENST00000472863.1_Intron|HOXB3_ENST00000476342.1_Intron	NM_024015.4	NP_076920.1	P17483	HXB4_HUMAN	homeobox B4	162						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|urinary_tract(2)	9						AGAGCGCTTGGGCTCCCCGCC	0.582													17	44					2.89027e-11	3.57291e-11	1	1	0	T	46654355	G	T	46654355	3	4	81	1	0	0	0	0	1	0	0	0	7344	1232	43	5	274	5	HOXB4	17	46654355	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	231026	46654355	34540855	12484	16100											
TTLL6	284076	broad.mit.edu	37	17	46865317	46865317	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:46865317G>T	ENST00000393382.3	-	11	1586	c.1445C>A	c.(1444-1446)aCt>aAt	p.T482N	TTLL6_ENST00000433608.2_Missense_Mutation_p.T175N	NM_001130918.1	NP_001124390.1	Q8N841	TTLL6_HUMAN	tubulin tyrosine ligase-like family, member 6	434						cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity			endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						ATACGTTTCAGTTTTCTTTAA	0.483													77	131					2.1672e-28	2.88281e-28	1	1	0	T	46865317	G	T	46865317	3	4	81	1	0	0	0	0	1	0	0	0	16793	1029	36	4	1250	4	TTLL6	17	46865317	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	210962	46865317	34329893	12485	16101											
CALCOCO2	10241	broad.mit.edu	37	17	46925799	46925799	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:46925799C>A	ENST00000258947.3	+	4	500	c.399C>A	c.(397-399)atC>atA	p.I133I	CALCOCO2_ENST00000508679.1_Silent_p.I61I|CALCOCO2_ENST00000416445.2_Silent_p.I133I|CALCOCO2_ENST00000448105.2_Silent_p.I157I|CALCOCO2_ENST00000509507.1_Silent_p.I154I	NM_001261390.1|NM_001261391.1|NM_001261393.1|NM_001261395.1|NM_005831.4	NP_001248319.1|NP_001248320.1|NP_001248322.1|NP_001248324.1|NP_005822.1	Q13137	CACO2_HUMAN	calcium binding and coiled-coil domain 2	133					response to interferon-gamma|viral reproduction	cytoskeleton|Golgi apparatus|nucleus|perinuclear region of cytoplasm|soluble fraction	protein homodimerization activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	15						AGGAAGACATCCTGGTTGTTA	0.438													8	109					3.09899e-07	3.60815e-07	1	1	0	A	46925799	C	A	46925799	2	1	81	1	0	0	0	0	0	0	0	1	2596	845	30	5		5	CALCOCO2	17	46925799	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	60482	46925799	34269411	12486	16102											
B4GALNT2	124872	broad.mit.edu	37	17	47237959	47237959	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:47237959C>T	ENST00000300404.2	+	7	961	c.902C>T	c.(901-903)aCc>aTc	p.T301I	B4GALNT2_ENST00000393354.2_Missense_Mutation_p.T241I|B4GALNT2_ENST00000504681.1_Missense_Mutation_p.T215I	NM_153446.2	NP_703147.2	Q8NHY0	B4GN2_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 2	301					lipid glycosylation|negative regulation of cell-cell adhesion|UDP-N-acetylgalactosamine metabolic process	integral to Golgi membrane	acetylgalactosaminyltransferase activity			endometrium(3)|large_intestine(6)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	24			all cancers(6;0.000316)			TTTCCAGTGACCATCCGCCAT	0.527													13	193					0	0	1	0	0	T	47237959	C	T	47237959	3	4	81	1	0	0	0	0	1	0	0	0	1265	507	18	2	946	2	B4GALNT2	17	47237959	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	312160	47237959	33957251	12487	16103											
B4GALNT2	124872	broad.mit.edu	37	17	47243497	47243497	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:47243497C>A	ENST00000300404.2	+	9	1215	c.1156C>A	c.(1156-1158)Ctg>Atg	p.L386M	B4GALNT2_ENST00000393354.2_Missense_Mutation_p.L326M|B4GALNT2_ENST00000504681.1_Missense_Mutation_p.L300M	NM_153446.2	NP_703147.2	Q8NHY0	B4GN2_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 2	386					lipid glycosylation|negative regulation of cell-cell adhesion|UDP-N-acetylgalactosamine metabolic process	integral to Golgi membrane	acetylgalactosaminyltransferase activity			endometrium(3)|large_intestine(6)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	24			all cancers(6;0.000316)			TGGTAGGAACCTGGCCATATC	0.463													18	27					1.01871e-10	1.25121e-10	1	1	0	A	47243497	C	A	47243497	3	1	81	1	0	0	0	0	1	0	0	0	1265	680	24	4	1208	4	B4GALNT2	17	47243497	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	5538	47243497	33951713	12488	16104											
B4GALNT2	124872	broad.mit.edu	37	17	47243584	47243584	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:47243584G>A	ENST00000300404.2	+	9	1302	c.1243G>A	c.(1243-1245)Gtg>Atg	p.V415M	B4GALNT2_ENST00000393354.2_Missense_Mutation_p.V355M|B4GALNT2_ENST00000504681.1_Missense_Mutation_p.V329M	NM_153446.2	NP_703147.2	Q8NHY0	B4GN2_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 2	415					lipid glycosylation|negative regulation of cell-cell adhesion|UDP-N-acetylgalactosamine metabolic process	integral to Golgi membrane	acetylgalactosaminyltransferase activity			endometrium(3)|large_intestine(6)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	24			all cancers(6;0.000316)			TGAGGTGCTGGTGGATGTCCT	0.512													21	36					0	0	1	0	0	A	47243584	G	A	47243584	3	1	81	1	0	0	0	0	1	0	0	0	1265	1261	44	2	1295	2	B4GALNT2	17	47243584	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	87	47243584	33951626	12489	16105											
ZNF652	22834	broad.mit.edu	37	17	47394333	47394333	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:47394333C>A	ENST00000362063.2	-	2	1073	c.755G>T	c.(754-756)aGg>aTg	p.R252M	ZNF652_ENST00000430262.2_Missense_Mutation_p.R252M	NM_014897.2	NP_055712.1	Q9Y2D9	ZN652_HUMAN	zinc finger protein 652	252					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	20	all_cancers(4;6.81e-14)|Breast(4;4.97e-29)|all_epithelial(4;1.53e-17)		BRCA - Breast invasive adenocarcinoma(1;3.1e-14)|Epithelial(5;2.92e-06)|all cancers(6;3.15e-05)			GTTAAATACCCTGGGGCACTT	0.488													5	70					0.014758	0.0152304	1	1	0	A	47394333	C	A	47394333	3	1	81	1	0	0	0	0	1	0	0	0	18122	681	24	4	1085	4	ZNF652	17	47394333	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	150749	47394333	33800877	12490	16106											
NGFR	4804	broad.mit.edu	37	17	47583691	47583691	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:47583691C>T	ENST00000172229.3	+	3	364	c.239C>T	c.(238-240)aCc>aTc	p.T80I	RP5-1029K10.2_ENST00000514506.1_RNA|NGFR_ENST00000504201.1_5'UTR	NM_002507.3	NP_002498.1	P08138	TNR16_HUMAN	nerve growth factor receptor	80					anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|membrane protein intracellular domain proteolysis|negative regulation of axonogenesis|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis	cell surface|cytosol|endosome|extracellular region|integral to plasma membrane|nucleoplasm				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)	17	all_cancers(4;1.45e-13)|Breast(4;6.34e-28)|all_epithelial(4;4.95e-17)					GTGAGCGCGACCGAGCCGTGC	0.682													5	11					0	0	1	0	0	T	47583691	C	T	47583691	3	4	81	1	0	0	0	0	1	0	0	0	10443	507	18	2	249	2	NGFR	17	47583691	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	189358	47583691	33611519	12491	16107											
SPOP	8405	broad.mit.edu	37	17	47696646	47696646	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:47696646T>A	ENST00000393331.3	-	6	772	c.302A>T	c.(301-303)aAa>aTa	p.K101I	SPOP_ENST00000393328.2_Missense_Mutation_p.K101I|SPOP_ENST00000503676.1_Missense_Mutation_p.K101I|SPOP_ENST00000347630.2_Missense_Mutation_p.K101I|SPOP_ENST00000504102.1_Missense_Mutation_p.K101I	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	O43791	SPOP_HUMAN	speckle-type POZ protein	101	MATH.|Required for nuclear localization.				mRNA processing	nucleus	protein binding			endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						GAATTTGAATTTTGCCCGAAC	0.408										Prostate(2;0.17)			11	92					0	0	1	0	0	A	47696646	T	A	47696646	3	1	81	1	0	0	0	0	1	0	0	0	15140	1841	64	5	850	5	SPOP	17	47696646	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	112955	47696646	33498564	12492	16108											
SLC35B1	10237	broad.mit.edu	37	17	47781573	47781573	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:47781573G>T	ENST00000240333.6	-	6	665	c.544C>A	c.(544-546)Ctg>Atg	p.L182M	SLC35B1_ENST00000415270.2_Missense_Mutation_p.L219M			P78383	S35B1_HUMAN	solute carrier family 35, member B1	182						endoplasmic reticulum membrane|integral to membrane|microsome	UDP-galactose transmembrane transporter activity			endometrium(1)|large_intestine(2)|lung(3)|urinary_tract(1)	7						AGTCCATCCAGGGTCAGCGAT	0.532													16	25					3.41278e-10	4.16681e-10	1	1	0	T	47781573	G	T	47781573	3	4	81	1	0	0	0	0	1	0	0	0	14630	991	35	4	440	4	SLC35B1	17	47781573	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	84927	47781573	33413637	12493	16109											
FAM117A	81558	broad.mit.edu	37	17	47799936	47799936	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:47799936C>T	ENST00000240364.2	-	3	466	c.387G>A	c.(385-387)gaG>gaA	p.E129E	FAM117A_ENST00000513602.1_5'UTR|FAM117A_ENST00000514018.1_5'UTR	NM_030802.3	NP_110429.1	Q9C073	F117A_HUMAN	family with sequence similarity 117, member A	129										haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	17						CACCTTCTAGCTCTTGCCAGG	0.572													11	9					0	0	1	0	0	T	47799936	C	T	47799936	2	4	81	1	0	0	0	0	0	0	0	1	5440	796	28	2		2	FAM117A	17	47799936	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	18363	47799936	33395274	12494	16110											
ITGA3	3675	broad.mit.edu	37	17	48151344	48151344	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:48151344G>A	ENST00000320031.8	+	8	1551	c.1221G>A	c.(1219-1221)aaG>aaA	p.K407K	ITGA3_ENST00000007722.7_Silent_p.K407K|ITGA3_ENST00000544892.1_Silent_p.K182K	NM_002204.2|NM_005501.2	NP_002195.1|NP_005492.1	P26006	ITA3_HUMAN	integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor)	407					blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|leukocyte migration	cell surface|integrin complex	protein binding|receptor activity			endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	31						GTAGCTCTAAGGGGCTCCTTA	0.557													3	38					0	0	1	0	0	A	48151344	G	A	48151344	2	1	81	1	0	0	0	0	0	0	0	1	7921	991	35	2		2	ITGA3	17	48151344	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	351408	48151344	33043866	12495	16111											
COL1A1	1277	broad.mit.edu	37	17	48270050	48270050	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:48270050G>T	ENST00000225964.5	-	28	1998	c.1880C>A	c.(1879-1881)cCc>cAc	p.P627H		NM_000088.3	NP_000079	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	627	Triple-helical region.				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)|Palifermin(DB00039)	CTCGCCAGCGGGACCCTGCAC	0.627			T	"PDGFB, USP6"	"dermatofibrosarcoma protuberans, aneurysmal bone cyst "		Osteogenesis imperfecta						35	78					3.33393e-15	4.2498e-15	1	1	0	T	48270050	G	T	48270050	3	4	81	1	0	0	0	0	1	0	0	0	3700	1232	43	5	2610	5	COL1A1	17	48270050	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	118706	48270050	32925160	12496	16112											
COL1A1	1277	broad.mit.edu	37	17	48272410	48272410	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:48272410G>A	ENST00000225964.5	-	20	1469	c.1351C>T	c.(1351-1353)Cct>Tct	p.P451S		NM_000088.3	NP_000079	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	451	Triple-helical region.				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)|Palifermin(DB00039)	AGACTTACAGGCTCTCCCTTA	0.612			T	"PDGFB, USP6"	"dermatofibrosarcoma protuberans, aneurysmal bone cyst "		Osteogenesis imperfecta						22	49					0	0	1	0	0	A	48272410	G	A	48272410	3	1	81	1	0	0	0	0	1	0	0	0	3700	1203	42	2	3171	2	COL1A1	17	48272410	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2360	48272410	32922800	12497	16113											
TMEM92	162461	broad.mit.edu	37	17	48356668	48356668	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:48356668G>A	ENST00000300433.3	+	6	589	c.479G>A	c.(478-480)tGa>tAa	p.*160*	TMEM92_ENST00000507382.1_Silent_p.*160*	NM_001168215.1	NP_001161687.1	Q6UXU6	TMM92_HUMAN	transmembrane protein 92	0						integral to membrane				NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(1)	7						CCGGCCTTCTGAGTCACCTCC	0.607													7	99					0	0	1	0	0	A	48356668	G	A	48356668	2	1	81	1	0	0	0	0	0	0	0	1	16281	1285	45	2		2	TMEM92	17	48356668	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	84258	48356668	32838542	12498	16114											
XYLT2	64132	broad.mit.edu	37	17	48433533	48433533	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:48433533C>G	ENST00000017003.2	+	7	1442	c.1393C>G	c.(1393-1395)Ctg>Gtg	p.L465V	XYLT2_ENST00000507602.1_Missense_Mutation_p.L465V	NM_022167.2	NP_071450.2	Q9H1B5	XYLT2_HUMAN	xylosyltransferase II	465					glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(2)|urinary_tract(1)	12	Breast(11;7.18e-19)					GAACCGCAAGCTGGGCTGCAA	0.602													5	51					0	0	1	0	0	G	48433533	C	G	48433533	3	3	81	1	0	0	0	0	1	0	0	0	17524	796	28	4	1419	4	XYLT2	17	48433533	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	76865	48433533	32761677	12499	16115											
SPATA20	64847	broad.mit.edu	37	17	48626519	48626519	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:48626519G>A	ENST00000006658.6	+	6	752	c.632G>A	c.(631-633)cGc>cAc	p.R211H	SPATA20_ENST00000356488.4_Missense_Mutation_p.R195H|SPATA20_ENST00000393244.3_Missense_Mutation_p.R151H|SPATA20_ENST00000511937.1_3'UTR	NM_022827.3	NP_073738.2	Q8TB22	SPT20_HUMAN	spermatogenesis associated 20	195					cell differentiation|mannose metabolic process|multicellular organismal development|spermatogenesis	extracellular region	mannose-6-phosphate isomerase activity|protein binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;9.38e-09)			GTCGGCTTCCGCACAGTGTTG	0.622													28	33					0	0	1	0	0	A	48626519	G	A	48626519	3	1	81	1	0	0	0	0	1	0	0	0	15062	1087	38	1	654	1	SPATA20	17	48626519	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	192986	48626519	32568691	12500	16116											
SPATA20	64847	broad.mit.edu	37	17	48632596	48632596	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:48632596G>A	ENST00000006658.6	+	16	2281	c.2161G>A	c.(2161-2163)Gtg>Atg	p.V721M	SPATA20_ENST00000356488.4_Missense_Mutation_p.V705M|SPATA20_ENST00000393244.3_Missense_Mutation_p.V661M|SPATA20_ENST00000511937.1_3'UTR	NM_022827.3	NP_073738.2	Q8TB22	SPT20_HUMAN	spermatogenesis associated 20	705					cell differentiation|mannose metabolic process|multicellular organismal development|spermatogenesis	extracellular region	mannose-6-phosphate isomerase activity|protein binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;9.38e-09)			CGGTCAGATCGTGATCTGTGG	0.592													13	12					0	0	1	0	0	A	48632596	G	A	48632596	3	1	81	1	0	0	0	0	1	0	0	0	15062	1145	40	1	2223	1	SPATA20	17	48632596	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	6077	48632596	32562614	12501	16117											
CACNA1G	8913	broad.mit.edu	37	17	48653030	48653030	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:48653030C>A	ENST00000352832.5	+	8	1639	c.1267C>A	c.(1267-1269)Ctg>Atg	p.L423M	CACNA1G_ENST00000514079.1_Missense_Mutation_p.L423M|CACNA1G_ENST00000510366.1_Missense_Mutation_p.L423M|CACNA1G_ENST00000429973.2_Missense_Mutation_p.L423M|CACNA1G_ENST00000358244.5_Missense_Mutation_p.L423M|CACNA1G_ENST00000512389.1_Missense_Mutation_p.L423M|CACNA1G_ENST00000505165.1_Missense_Mutation_p.L423M|CACNA1G_ENST00000515165.1_Missense_Mutation_p.L423M|CACNA1G_ENST00000513964.1_Missense_Mutation_p.L423M|CACNA1G_ENST00000503485.1_Missense_Mutation_p.L423M|CACNA1G_ENST00000507510.2_Missense_Mutation_p.L423M|CACNA1G_ENST00000513689.2_Missense_Mutation_p.L423M|CACNA1G_ENST00000354983.4_Missense_Mutation_p.L423M|CACNA1G_ENST00000442258.2_Missense_Mutation_p.L423M|CACNA1G_ENST00000510115.1_Missense_Mutation_p.L423M|CACNA1G_ENST00000359106.5_Missense_Mutation_p.L423M|CACNA1G_ENST00000515411.1_Missense_Mutation_p.L423M|CACNA1G_ENST00000514717.1_Missense_Mutation_p.L423M|CACNA1G_ENST00000507609.1_Missense_Mutation_p.L423M|CACNA1G_ENST00000507896.1_Missense_Mutation_p.L423M|CACNA1G_ENST00000502264.1_Missense_Mutation_p.L423M|CACNA1G_ENST00000514181.1_Missense_Mutation_p.L423M|CACNA1G_ENST00000507336.1_Missense_Mutation_p.L423M|CACNA1G_ENST00000360761.4_Missense_Mutation_p.L423M|CACNA1G_ENST00000515765.1_Missense_Mutation_p.L423M|CACNA1G_ENST00000416767.4_Missense_Mutation_p.L423M	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	423					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	CGCCAGCACCCTGGCTAGCTT	0.617													12	11					0.00010058	0.000110448	1	1	0	A	48653030	C	A	48653030	3	1	81	1	0	0	0	0	1	0	0	0	2562	680	24	4	1297	4	CACNA1G	17	48653030	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	20434	48653030	32542180	12502	16118											
CACNA1G	8913	broad.mit.edu	37	17	48655621	48655621	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:48655621G>A	ENST00000352832.5	+	9	2369	c.1997G>A	c.(1996-1998)aGc>aAc	p.S666N	CACNA1G_ENST00000514079.1_Missense_Mutation_p.S666N|CACNA1G_ENST00000510366.1_Missense_Mutation_p.S666N|CACNA1G_ENST00000429973.2_Missense_Mutation_p.S666N|CACNA1G_ENST00000358244.5_Missense_Mutation_p.S666N|CACNA1G_ENST00000512389.1_Missense_Mutation_p.S666N|CACNA1G_ENST00000505165.1_Missense_Mutation_p.S666N|CACNA1G_ENST00000515165.1_Missense_Mutation_p.S666N|CACNA1G_ENST00000513964.1_Missense_Mutation_p.S666N|CACNA1G_ENST00000503485.1_Missense_Mutation_p.S666N|CACNA1G_ENST00000507510.2_Missense_Mutation_p.S666N|CACNA1G_ENST00000513689.2_Missense_Mutation_p.S666N|CACNA1G_ENST00000354983.4_Missense_Mutation_p.S666N|CACNA1G_ENST00000442258.2_Missense_Mutation_p.S666N|CACNA1G_ENST00000510115.1_Missense_Mutation_p.S666N|CACNA1G_ENST00000359106.5_Missense_Mutation_p.S666N|CACNA1G_ENST00000515411.1_Missense_Mutation_p.S666N|CACNA1G_ENST00000514717.1_Missense_Mutation_p.S666N|CACNA1G_ENST00000507609.1_Missense_Mutation_p.S666N|CACNA1G_ENST00000507896.1_Missense_Mutation_p.S666N|CACNA1G_ENST00000502264.1_Missense_Mutation_p.S666N|CACNA1G_ENST00000514181.1_Missense_Mutation_p.S666N|CACNA1G_ENST00000507336.1_Missense_Mutation_p.S666N|CACNA1G_ENST00000360761.4_Missense_Mutation_p.S666N|CACNA1G_ENST00000515765.1_Missense_Mutation_p.S666N|CACNA1G_ENST00000416767.4_Missense_Mutation_p.S666N	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	666					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	GGTCCAGACAGCTGCCCCTAC	0.597													18	40					0	0	1	0	0	A	48655621	G	A	48655621	3	1	81	1	0	0	0	0	1	0	0	0	2562	971	34	2	2031	2	CACNA1G	17	48655621	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2591	48655621	32539589	12503	16119											
CACNA1G	8913	broad.mit.edu	37	17	48655849	48655849	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:48655849G>A	ENST00000352832.5	+	9	2597	c.2225G>A	c.(2224-2226)aGc>aAc	p.S742N	CACNA1G_ENST00000514079.1_Missense_Mutation_p.S742N|CACNA1G_ENST00000510366.1_Missense_Mutation_p.S742N|CACNA1G_ENST00000429973.2_Missense_Mutation_p.S742N|CACNA1G_ENST00000358244.5_Missense_Mutation_p.S742N|CACNA1G_ENST00000512389.1_Missense_Mutation_p.S742N|CACNA1G_ENST00000505165.1_Missense_Mutation_p.S742N|CACNA1G_ENST00000515165.1_Missense_Mutation_p.S742N|CACNA1G_ENST00000513964.1_Missense_Mutation_p.S742N|CACNA1G_ENST00000503485.1_Missense_Mutation_p.S742N|CACNA1G_ENST00000507510.2_Missense_Mutation_p.S742N|CACNA1G_ENST00000513689.2_Missense_Mutation_p.S742N|CACNA1G_ENST00000354983.4_Missense_Mutation_p.S742N|CACNA1G_ENST00000442258.2_Missense_Mutation_p.S742N|CACNA1G_ENST00000510115.1_Missense_Mutation_p.S742N|CACNA1G_ENST00000359106.5_Missense_Mutation_p.S742N|CACNA1G_ENST00000515411.1_Missense_Mutation_p.S742N|CACNA1G_ENST00000514717.1_Missense_Mutation_p.S742N|CACNA1G_ENST00000507609.1_Missense_Mutation_p.S742N|CACNA1G_ENST00000507896.1_Missense_Mutation_p.S742N|CACNA1G_ENST00000502264.1_Missense_Mutation_p.S742N|CACNA1G_ENST00000514181.1_Missense_Mutation_p.S742N|CACNA1G_ENST00000507336.1_Missense_Mutation_p.S742N|CACNA1G_ENST00000360761.4_Missense_Mutation_p.S742N|CACNA1G_ENST00000515765.1_Missense_Mutation_p.S742N|CACNA1G_ENST00000416767.4_Missense_Mutation_p.S742N	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	742					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	ATTGTGGACAGCAAGTACTTT	0.592													10	62					0	0	1	0	0	A	48655849	G	A	48655849	3	1	81	1	0	0	0	0	1	0	0	0	2562	971	34	2	2259	2	CACNA1G	17	48655849	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	228	48655849	32539361	12504	16120											
ABCC3	8714	broad.mit.edu	37	17	48741188	48741188	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:48741188G>A	ENST00000285238.8	+	9	1225	c.1145G>A	c.(1144-1146)cGt>cAt	p.R382H	ABCC3_ENST00000427699.1_Missense_Mutation_p.R382H	NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 3	382	ABC transmembrane type-1 1.				bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Glibenclamide(DB01016)	GTGAAGTTTCGTACTGGGATC	0.562													22	45					0	0	1	0	0	A	48741188	G	A	48741188	3	1	81	1	0	0	0	0	1	0	0	0	54	1145	40	1	1179	1	ABCC3	17	48741188	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	85339	48741188	32454022	12505	16121											
ABCC3	8714	broad.mit.edu	37	17	48750833	48750833	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:48750833C>T	ENST00000285238.8	+	19	2493	c.2413C>T	c.(2413-2415)Cga>Tga	p.R805*		NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 3	805	ABC transporter 1.				bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Glibenclamide(DB01016)	TCCCCAGACGCGAGTGCTGGT	0.612													25	36					0	0	1	0	0	T	48750833	C	T	48750833	4	4	81	1	0	0	0	0	0	1	0	0	54	760	27	1	2571	1	ABCC3	17	48750833	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	9645	48750833	32444377	12506	16122											
ABCC3	8714	broad.mit.edu	37	17	48753805	48753805	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:48753805C>T	ENST00000285238.8	+	23	3314	c.3234C>T	c.(3232-3234)gtC>gtT	p.V1078V		NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 3	1078	ABC transmembrane type-1 2.				bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Glibenclamide(DB01016)	ACATCTATGTCGTTGATGAGG	0.537													68	123					0	0	1	0	0	T	48753805	C	T	48753805	2	4	81	1	0	0	0	0	0	0	0	1	54	871	31	1		1	ABCC3	17	48753805	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2972	48753805	32441405	12507	16123											
ABCC3	8714	broad.mit.edu	37	17	48757159	48757159	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:48757159G>T	ENST00000285238.8	+	26	3786	c.3706G>T	c.(3706-3708)Gtg>Ttg	p.V1236L		NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 3	1236	ABC transmembrane type-1 2.				bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Glibenclamide(DB01016)	CTTTGGCCAGGTGACATTTGC	0.512													9	39					3.09899e-07	3.60815e-07	1	1	0	T	48757159	G	T	48757159	5	4	81	1	0	0	0	0	0	0	1	0	54	1275	44	5	3892	5	ABCC3	17	48757159	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	3354	48757159	32438051	12508	16124											
ABCC3	8714	broad.mit.edu	37	17	48761033	48761033	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:48761033G>T	ENST00000285238.8	+	27	3950	c.3870G>T	c.(3868-3870)gaG>gaT	p.E1290D		NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 3	1290					bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Glibenclamide(DB01016)	GGGAGGTGGAGTTCCGGAATT	0.662													4	32					2.56e-06	2.92664e-06	1	1	0	T	48761033	G	T	48761033	3	4	81	1	0	0	0	0	1	0	0	0	54	1020	36	4	4060	4	ABCC3	17	48761033	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	3874	48761033	32434177	12509	16125											
ABCC3	8714	broad.mit.edu	37	17	48761367	48761367	+	Missense_Mutation	SNP	C	C	A	rs141762939		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:48761367C>A	ENST00000285238.8	+	28	4092	c.4012C>A	c.(4012-4014)Cgc>Agc	p.R1338S		NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 3	1338	ABC transporter 2.				bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Glibenclamide(DB01016)	TTGCCTGTTCCGCATCCTGGA	0.622													5	54					3.59834e-05	3.99423e-05	1	1	0	A	48761367	C	A	48761367	3	1	81	1	0	0	0	0	1	0	0	0	54	652	23	5	4206	5	ABCC3	17	48761367	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	334	48761367	32433843	12510	16126											
ANKRD40	91369	broad.mit.edu	37	17	48777955	48777955	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:48777955C>A	ENST00000285243.6	-	2	526	c.257G>T	c.(256-258)aGg>aTg	p.R86M		NM_052855.3	NP_443087.1	Q6AI12	ANR40_HUMAN	ankyrin repeat domain 40	86										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|skin(1)|urinary_tract(1)	11			BRCA - Breast invasive adenocarcinoma(22;2.03e-09)			GATTTCTCTCCTTGATGTTAA	0.413													29	87					4.15321e-07	4.83186e-07	1	1	0	A	48777955	C	A	48777955	3	1	81	1	0	0	0	0	1	0	0	0	663	681	24	4	865	4	ANKRD40	17	48777955	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	16588	48777955	32417255	12511	16127											
LUC7L3	51747	broad.mit.edu	37	17	48821079	48821079	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:48821079G>T	ENST00000505658.1	+	6	628	c.439G>T	c.(439-441)Ggg>Tgg	p.G147W	LUC7L3_ENST00000393227.2_Missense_Mutation_p.G147W|LUC7L3_ENST00000240304.1_Missense_Mutation_p.G147W|LUC7L3_ENST00000544170.1_Missense_Mutation_p.G71W			O95232	LC7L3_HUMAN	LUC7-like 3 (S. cerevisiae)	147					apoptosis|mRNA processing|response to stress|RNA splicing	focal adhesion|nuclear speck	DNA binding|mRNA binding|protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	12						TGAAGAATTAGGGTCTGAAGG	0.378													4	35					0.150653	0.152522	1	1	0	T	48821079	G	T	48821079	3	4	81	1	0	0	0	0	1	0	0	0	9129	1000	35	4	461	4	LUC7L3	17	48821079	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	43124	48821079	32374131	12512	16128											
WFIKKN2	124857	broad.mit.edu	37	17	48918032	48918032	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:48918032C>T	ENST00000311378.4	+	2	1911	c.1383C>T	c.(1381-1383)agC>agT	p.S461S	WFIKKN2_ENST00000426127.1_Silent_p.S368S|RP11-506D12.5_ENST00000572491.2_RNA	NM_175575.5	NP_783165.1	Q8TEU8	WFKN2_HUMAN	WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2	461	NTR.					extracellular region	metalloendopeptidase inhibitor activity|protein binding|serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(13)|ovary(4)|skin(1)	29			BRCA - Breast invasive adenocarcinoma(22;1.09e-08)			TCTGTCGCAGCGACTTTGTCA	0.632													5	39					0	0	1	0	0	T	48918032	C	T	48918032	2	4	81	1	0	0	0	0	0	0	0	1	17419	767	27	1		1	WFIKKN2	17	48918032	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	96953	48918032	32277178	12513	16129											
TOB1	10140	broad.mit.edu	37	17	48940436	48940436	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:48940436C>T	ENST00000499247.2	-	2	1376	c.943G>A	c.(943-945)Ggc>Agc	p.G315S	TOB1_ENST00000268957.3_Missense_Mutation_p.G315S	NM_001243885.1|NM_005749.3	NP_001230814.1|NP_005740.1	P50616	TOB1_HUMAN	transducer of ERBB2, 1	315					negative regulation of cell proliferation		SH3/SH2 adaptor activity			breast(1)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13			BRCA - Breast invasive adenocarcinoma(22;1.09e-08)			TCATTGAGGCCTCCATAGGCT	0.413													27	46					0	0	1	0	0	T	48940436	C	T	48940436	3	4	81	1	0	0	0	0	1	0	0	0	16407	681	24	2	98	2	TOB1	17	48940436	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	22404	48940436	32254774	12514	16130											
SPAG9	9043	broad.mit.edu	37	17	49067917	49067917	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:49067917G>T	ENST00000262013.7	-	20	2719	c.2511C>A	c.(2509-2511)agC>agA	p.S837R	SPAG9_ENST00000357122.4_Missense_Mutation_p.S823R|SPAG9_ENST00000505279.1_Missense_Mutation_p.S827R|SPAG9_ENST00000510283.1_Missense_Mutation_p.S680R	NM_001130528.2	NP_001124000.1	O60271	JIP4_HUMAN	sperm associated antigen 9	837					positive regulation of cell migration|positive regulation of muscle cell differentiation|retrograde transport, endosome to Golgi|spermatogenesis	acrosomal vesicle|integral to membrane|perinuclear region of cytoplasm				NS(1)|breast(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37			BRCA - Breast invasive adenocarcinoma(22;4.24e-07)			CTCCTAACAGGCTGTCTGTCT	0.488													29	33					1.5548e-18	2.01812e-18	1	1	0	T	49067917	G	T	49067917	3	4	81	1	0	0	0	0	1	0	0	0	15041	1194	42	5	1498	5	SPAG9	17	49067917	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	127481	49067917	32127293	12515	16131											
SPAG9	9043	broad.mit.edu	37	17	49067996	49067996	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:49067996T>C	ENST00000262013.7	-	20	2640	c.2432A>G	c.(2431-2433)gAt>gGt	p.D811G	SPAG9_ENST00000357122.4_Missense_Mutation_p.D797G|SPAG9_ENST00000505279.1_Missense_Mutation_p.D801G|SPAG9_ENST00000510283.1_Missense_Mutation_p.D654G	NM_001130528.2	NP_001124000.1	O60271	JIP4_HUMAN	sperm associated antigen 9	811					positive regulation of cell migration|positive regulation of muscle cell differentiation|retrograde transport, endosome to Golgi|spermatogenesis	acrosomal vesicle|integral to membrane|perinuclear region of cytoplasm				NS(1)|breast(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37			BRCA - Breast invasive adenocarcinoma(22;4.24e-07)			TTCTGAAAGATCTTCTCCTGC	0.388													11	72					0	0	1	0	0	C	49067996	T	C	49067996	3	2	81	1	0	0	0	0	1	0	0	0	15041	1435	50	3	1577	3	SPAG9	17	49067996	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	79	49067996	32127214	12516	16132											
UTP18	51096	broad.mit.edu	37	17	49365522	49365522	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:49365522C>A	ENST00000225298.7	+	11	1518	c.1461C>A	c.(1459-1461)atC>atA	p.I487I		NM_016001.2	NP_057085.2	Q9Y5J1	UTP18_HUMAN	UTP18 small subunit (SSU) processome component homolog (yeast)	487					rRNA processing	nucleolus				breast(2)|endometrium(3)|kidney(2)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16			BRCA - Breast invasive adenocarcinoma(22;2.09e-07)			CTACAGAAATCTTGGCAATTG	0.313													23	36					1.22574e-08	1.46304e-08	1	1	0	A	49365522	C	A	49365522	2	1	81	1	0	0	0	0	0	0	0	1	17158	903	32	4		4	UTP18	17	49365522	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	297526	49365522	31829688	12517	16133											
CA10	56934	broad.mit.edu	37	17	50008453	50008453	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:50008453A>C	ENST00000451037.2	-	3	1116	c.176T>G	c.(175-177)cTt>cGt	p.L59R	CA10_ENST00000285273.4_Missense_Mutation_p.L59R|CA10_ENST00000340813.6_Missense_Mutation_p.L65R|CA10_ENST00000570565.1_5'UTR|CA10_ENST00000442502.2_Missense_Mutation_p.L59R	NM_020178.4	NP_064563.1	Q9NS85	CAH10_HUMAN	carbonic anhydrase X	59					brain development					cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|skin(3)|stomach(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(22;4.74e-06)			CACAGAGCAAAGATTCCAAGC	0.468													14	117					0	0	1	0	0	C	50008453	A	C	50008453	3	2	81	1	0	0	0	0	1	0	0	0	2529	72	3	5	838	5	CA10	17	50008453	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	642931	50008453	31186757	12518	16134											
KIF2B	84643	broad.mit.edu	37	17	51902154	51902154	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:51902154T>C	ENST00000268919.4	+	1	1916	c.1760T>C	c.(1759-1761)gTa>gCa	p.V587A		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	587					blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						ATACCTTATGTACAGAGTGAG	0.418													36	56					0	0	1	0	0	C	51902154	T	C	51902154	3	2	81	1	0	0	0	0	1	0	0	0	8340	1638	57	3	1762	3	KIF2B	17	51902154	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	1893701	51902154	29293056	12519	16135											
TOM1L1	10040	broad.mit.edu	37	17	52992099	52992099	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:52992099G>T	ENST00000575882.1	+	6	951	c.598G>T	c.(598-600)Gaa>Taa	p.E200*	TOM1L1_ENST00000572405.1_Nonsense_Mutation_p.E165*|TOM1L1_ENST00000445275.2_Nonsense_Mutation_p.E200*|TOM1L1_ENST00000540336.1_Intron|TOM1L1_ENST00000575333.1_Nonsense_Mutation_p.E200*|TOM1L1_ENST00000572158.1_Nonsense_Mutation_p.E193*|TOM1L1_ENST00000348161.4_Nonsense_Mutation_p.E123*|TOM1L1_ENST00000536554.1_Nonsense_Mutation_p.E123*|TOM1L1_ENST00000570371.1_Nonsense_Mutation_p.E200*	NM_005486.2	NP_005477.2	O75674	TM1L1_HUMAN	target of myb1 (chicken)-like 1	200	GAT.				intracellular protein transport|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway	cytosol|endosome membrane|Golgi stack|lysosome	SH3 domain binding|ubiquitin binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	15						ATTGGTCCCAGAACAGGtaac	0.383													73	85					1.26778e-28	1.6869e-28	1	1	0	T	52992099	G	T	52992099	4	4	81	1	0	0	0	0	0	1	0	0	16412	943	33	4	620	4	TOM1L1	17	52992099	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1089945	52992099	28203111	12520	16136											
HLF	3131	broad.mit.edu	37	17	53345266	53345266	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:53345266G>A	ENST00000226067.5	+	2	743	c.270G>A	c.(268-270)gaG>gaA	p.E90E	HLF_ENST00000430986.2_Silent_p.E5E|HLF_ENST00000573945.1_Silent_p.E5E|HLF_ENST00000575345.1_Silent_p.E5E	NM_002126.4	NP_002117.1	Q16534	HLF_HUMAN	hepatic leukemia factor	90					multicellular organismal development|rhythmic process|transcription from RNA polymerase II promoter	nucleus	double-stranded DNA binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|ovary(2)	3						ACCTGGAGGAGTTTTTGTCAG	0.582			T	TCF3	ALL								45	74					0	0	1	0	0	A	53345266	G	A	53345266	2	1	81	1	0	0	0	0	0	0	0	1	7255	1020	36	2		2	HLF	17	53345266	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	353167	53345266	27849944	12521	16137											
ANKFN1	162282	broad.mit.edu	37	17	54452064	54452064	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:54452064C>T	ENST00000566473.2	+	7	908	c.908C>T	c.(907-909)aCc>aTc	p.T303I	ANKFN1_ENST00000318698.2_Missense_Mutation_p.T303I			Q8N957	ANKF1_HUMAN	ankyrin-repeat and fibronectin type III domain containing 1	303	Fibronectin type-III.									NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						GCTGTAGTAACCAGGTATAAA	0.438													26	62					0	0	1	0	0	T	54452064	C	T	54452064	3	4	81	1	0	0	0	0	1	0	0	0	621	507	18	2	934	2	ANKFN1	17	54452064	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1106798	54452064	26743146	12522	16138											
AKAP1	8165	broad.mit.edu	37	17	55183014	55183014	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:55183014C>A	ENST00000337714.3	+	2	422	c.189C>A	c.(187-189)gtC>gtA	p.V63V	AKAP1_ENST00000539273.1_Silent_p.V63V|AKAP1_ENST00000572557.1_Silent_p.V63V|AKAP1_ENST00000314126.3_Silent_p.V63V|AKAP1_ENST00000571629.1_Silent_p.V63V	NM_003488.3	NP_003479.1	Q92667	AKAP1_HUMAN	A kinase (PRKA) anchor protein 1	63					blood coagulation	cytosol|integral to membrane|mitochondrial outer membrane	protein binding|RNA binding			endometrium(2)|liver(1)|lung(7)|ovary(2)|pancreas(1)|skin(1)	14	Breast(9;5.46e-08)					TGGAAGACGTCTGTCCCAAAG	0.602													8	21					0.00307968	0.00324365	1	1	0	A	55183014	C	A	55183014	2	1	81	1	0	0	0	0	0	0	0	1	442	900	32	4		4	AKAP1	17	55183014	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	730950	55183014	26012196	12523	16139											
AKAP1	8165	broad.mit.edu	37	17	55193476	55193476	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:55193476G>A	ENST00000337714.3	+	7	2519	c.2286G>A	c.(2284-2286)acG>acA	p.T762T	AKAP1_ENST00000539273.1_Silent_p.T762T|AKAP1_ENST00000572557.1_Silent_p.T762T|AKAP1_ENST00000571629.1_Silent_p.T762T	NM_003488.3	NP_003479.1	Q92667	AKAP1_HUMAN	A kinase (PRKA) anchor protein 1	762	Tudor.				blood coagulation	cytosol|integral to membrane|mitochondrial outer membrane	protein binding|RNA binding			endometrium(2)|liver(1)|lung(7)|ovary(2)|pancreas(1)|skin(1)	14	Breast(9;5.46e-08)					CTGCAGTAACGGTCATCTGTG	0.647													13	27					0	0	1	0	0	A	55193476	G	A	55193476	2	1	81	1	0	0	0	0	0	0	0	1	442	1103	39	1		1	AKAP1	17	55193476	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	10462	55193476	26001734	12524	16140											
MSI2	124540	broad.mit.edu	37	17	55334830	55334830	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:55334830G>A	ENST00000284073.2	+	3	316	c.107G>A	c.(106-108)aGc>aAc	p.S36N	MSI2_ENST00000322684.3_Missense_Mutation_p.S32N|MSI2_ENST00000416426.2_Missense_Mutation_p.S14N	NM_138962.2	NP_620412.1	Q96DH6	MSI2H_HUMAN	musashi RNA-binding protein 2	36	RRM 1.					cytoplasm	nucleotide binding|RNA binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(1)|pancreas(1)|skin(1)	7	Breast(9;1.78e-08)			GBM - Glioblastoma multiforme(1;0.0025)		TCTACAGATAGCCTTAGAGAC	0.398			T	HOXA9	CML								8	17					0	0	1	0	0	A	55334830	G	A	55334830	3	1	81	1	0	0	0	0	1	0	0	0	9925	971	34	2	167	2	MSI2	17	55334830	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	141354	55334830	25860380	12525	16141											
MSI2	124540	broad.mit.edu	37	17	55752348	55752348	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:55752348G>A	ENST00000284073.2	+	12	1015	c.806G>A	c.(805-807)cGg>cAg	p.R269Q	MSI2_ENST00000579505.1_3'UTR|MSI2_ENST00000442934.2_Missense_Mutation_p.R208Q|MSI2_ENST00000416426.2_Missense_Mutation_p.R265Q	NM_138962.2	NP_620412.1	Q96DH6	MSI2H_HUMAN	musashi RNA-binding protein 2	269						cytoplasm	nucleotide binding|RNA binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(1)|pancreas(1)|skin(1)	7	Breast(9;1.78e-08)			GBM - Glioblastoma multiforme(1;0.0025)		AACCCGGCGCGGCCCGGAGGC	0.642			T	HOXA9	CML								53	76					0	0	1	0	0	A	55752348	G	A	55752348	3	1	81	1	0	0	0	0	1	0	0	0	9925	1116	39	1	947	1	MSI2	17	55752348	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	417518	55752348	25442862	12526	16142											
VEZF1	7716	broad.mit.edu	37	17	56051876	56051876	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:56051876C>T	ENST00000584396.1	-	6	1585	c.1497G>A	c.(1495-1497)atG>atA	p.M499I	VEZF1_ENST00000581208.1_Missense_Mutation_p.M508I			Q14119	VEZF1_HUMAN	vascular endothelial zinc finger 1	508					cellular defense response|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(2)|lung(5)|ovary(1)	10						GCAAGAAAGGCATGCTCTCTA	0.408													31	45					0	0	1	0	0	T	56051876	C	T	56051876	3	4	81	1	0	0	0	0	1	0	0	0	17215	710	25	2	45	2	VEZF1	17	56051876	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	299528	56051876	25143334	12527	16143											
VEZF1	7716	broad.mit.edu	37	17	56060664	56060664	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:56060664G>T	ENST00000584396.1	-	2	185	c.97C>A	c.(97-99)Cca>Aca	p.P33T	VEZF1_ENST00000581208.1_Missense_Mutation_p.P42T			Q14119	VEZF1_HUMAN	vascular endothelial zinc finger 1	42					cellular defense response|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(2)|lung(5)|ovary(1)	10						GGAAGCAATGGTTTCTGATCA	0.473													9	153					3.09899e-07	3.60815e-07	1	1	0	T	56060664	G	T	56060664	3	4	81	1	0	0	0	0	1	0	0	0	17215	1261	44	5	1461	5	VEZF1	17	56060664	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	8788	56060664	25134546	12528	16144											
EPX	8288	broad.mit.edu	37	17	56270815	56270815	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:56270815C>T	ENST00000225371.5	+	3	364	c.254C>T	c.(253-255)aCa>aTa	p.T85I		NM_000502.4	NP_000493.1	P11678	PERE_HUMAN	eosinophil peroxidase	85					hydrogen peroxide catabolic process		heme binding|peroxidase activity|protein binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	48						GCCACCAGGACAGTTGTTCGG	0.577													5	81					0	0	1	0	0	T	56270815	C	T	56270815	3	4	81	1	0	0	0	0	1	0	0	0	5228	478	17	2	264	2	EPX	17	56270815	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	210151	56270815	24924395	12529	16145											
EPX	8288	broad.mit.edu	37	17	56271114	56271114	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:56271114C>T	ENST00000225371.5	+	4	496	c.386C>T	c.(385-387)gCc>gTc	p.A129V		NM_000502.4	NP_000493.1	P11678	PERE_HUMAN	eosinophil peroxidase	129					hydrogen peroxide catabolic process		heme binding|peroxidase activity|protein binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	48						CTGTCCCAGGCCAGTGGCTGT	0.632													4	12					0	0	1	0	0	T	56271114	C	T	56271114	3	4	81	1	0	0	0	0	1	0	0	0	5228	739	26	2	400	2	EPX	17	56271114	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	299	56271114	24924096	12530	16146											
EPX	8288	broad.mit.edu	37	17	56274504	56274504	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:56274504G>A	ENST00000225371.5	+	7	1116	c.1006G>A	c.(1006-1008)Gcc>Acc	p.A336T		NM_000502.4	NP_000493.1	P11678	PERE_HUMAN	eosinophil peroxidase	336					hydrogen peroxide catabolic process		heme binding|peroxidase activity|protein binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	48						GGGGCTGCTGGCCATCAACCA	0.647													25	48					0	0	1	0	0	A	56274504	G	A	56274504	3	1	81	1	0	0	0	0	1	0	0	0	5228	1203	42	2	1032	2	EPX	17	56274504	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	3390	56274504	24920706	12531	16147											
LPO	4025	broad.mit.edu	37	17	56329583	56329583	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:56329583G>A	ENST00000262290.4	+	8	1137	c.821G>A	c.(820-822)tGc>tAc	p.C274Y	LPO_ENST00000582328.1_Missense_Mutation_p.C191Y|LPO_ENST00000421678.2_Missense_Mutation_p.C191Y|LPO_ENST00000543544.1_Missense_Mutation_p.C215Y	NM_006151.2	NP_006142.1	P22079	PERL_HUMAN	lactoperoxidase	274					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30						CAAGGGAAATGCATGCCTTTC	0.607													17	23					0	0	1	0	0	A	56329583	G	A	56329583	3	1	81	1	0	0	0	0	1	0	0	0	8967	1319	46	2	847	2	LPO	17	56329583	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	55079	56329583	24865627	12532	16148											
LPO	4025	broad.mit.edu	37	17	56342180	56342180	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:56342180G>T	ENST00000262290.4	+	10	1680	c.1364G>T	c.(1363-1365)aGa>aTa	p.R455I	LPO_ENST00000582328.1_Missense_Mutation_p.R372I|LPO_ENST00000421678.2_Missense_Mutation_p.R372I|LPO_ENST00000543544.1_Missense_Mutation_p.R396I	NM_006151.2	NP_006142.1	P22079	PERL_HUMAN	lactoperoxidase	455					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	p.R455fs*66(1)		breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30						GTGGATCCCAGAATTTCCAAT	0.498													5	41					0.000602214	0.000646338	1	1	0	T	56342180	G	T	56342180	3	4	81	1	0	0	0	0	1	0	0	0	8967	942	33	4	1398	4	LPO	17	56342180	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	12597	56342180	24853030	12533	16149											
MPO	4353	broad.mit.edu	37	17	56350917	56350917	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:56350917G>A	ENST00000340482.3	-	8	1751	c.1575C>T	c.(1573-1575)gtC>gtT	p.V525V	MPO_ENST00000225275.3_Silent_p.V493V			P05164	PERM_HUMAN	myeloperoxidase	493					anti-apoptosis|hydrogen peroxide catabolic process|low-density lipoprotein particle remodeling	extracellular space|lysosome|nucleus|stored secretory granule	chromatin binding|heme binding|heparin binding|peroxidase activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	46					Cefdinir(DB00535)	CATTGGTGAAGACGTTGGCGA	0.617													42	90					0	0	1	0	0	A	56350917	G	A	56350917	2	1	81	1	0	0	0	0	0	0	0	1	9781	929	33	2		2	MPO	17	56350917	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	8737	56350917	24844293	12534	16150											
MPO	4353	broad.mit.edu	37	17	56355248	56355248	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:56355248G>A	ENST00000340482.3	-	6	1416	c.1240C>T	c.(1240-1242)Ctg>Ttg	p.L414L	MPO_ENST00000225275.3_Silent_p.L382L|MPO_ENST00000578493.1_5'UTR			P05164	PERM_HUMAN	myeloperoxidase	382					anti-apoptosis|hydrogen peroxide catabolic process|low-density lipoprotein particle remodeling	extracellular space|lysosome|nucleus|stored secretory granule	chromatin binding|heme binding|heparin binding|peroxidase activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	46					Cefdinir(DB00535)	TCATCGTGCAGGTTGTCAAAG	0.642													16	35					0	0	1	0	0	A	56355248	G	A	56355248	2	1	81	1	0	0	0	0	0	0	0	1	9781	991	35	2		2	MPO	17	56355248	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	4331	56355248	24839962	12535	16151											
BZRAP1	9256	broad.mit.edu	37	17	56382460	56382460	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:56382460G>T	ENST00000355701.3	-	30	6376	c.5506C>A	c.(5506-5508)Ctg>Atg	p.L1836M	BZRAP1_ENST00000343736.4_Missense_Mutation_p.L1836M|BZRAP1_ENST00000268893.6_Missense_Mutation_p.L1776M	NM_001261835.1|NM_004758.3	NP_001248764.1|NP_004749.2	O95153	RIMB1_HUMAN	benzodiazapine receptor (peripheral) associated protein 1	1836						mitochondrion	benzodiazepine receptor binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TCCCTGTCCAGGCCGCCTGCC	0.632													4	38					4.096e-09	4.9227e-09	1	1	0	T	56382460	G	T	56382460	3	4	81	1	0	0	0	0	1	0	0	0	1580	991	35	4	75	4	BZRAP1	17	56382460	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	27212	56382460	24812750	12536	16152											
BZRAP1	9256	broad.mit.edu	37	17	56395645	56395645	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:56395645G>T	ENST00000355701.3	-	14	2738	c.1868C>A	c.(1867-1869)cCt>cAt	p.P623H	BZRAP1_ENST00000343736.4_Missense_Mutation_p.P623H|BZRAP1_ENST00000268893.6_Missense_Mutation_p.P563H	NM_001261835.1|NM_004758.3	NP_001248764.1|NP_004749.2	O95153	RIMB1_HUMAN	benzodiazapine receptor (peripheral) associated protein 1	623						mitochondrion	benzodiazepine receptor binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					AATTACCTCAGGTGTAGGGCA	0.612													20	42					3.01185e-09	3.62286e-09	1	1	0	T	56395645	G	T	56395645	3	4	81	1	0	0	0	0	1	0	0	0	1580	1000	35	4	3777	4	BZRAP1	17	56395645	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	13185	56395645	24799565	12537	16153											
BZRAP1	9256	broad.mit.edu	37	17	56400738	56400738	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:56400738G>A	ENST00000355701.3	-	7	1895	c.1025C>T	c.(1024-1026)tCg>tTg	p.S342L	BZRAP1_ENST00000343736.4_Missense_Mutation_p.S342L|BZRAP1_ENST00000268893.6_Missense_Mutation_p.S282L	NM_001261835.1|NM_004758.3	NP_001248764.1|NP_004749.2	O95153	RIMB1_HUMAN	benzodiazapine receptor (peripheral) associated protein 1	342						mitochondrion	benzodiazepine receptor binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GCTGAGCTCCGATTCCTGAGG	0.587													71	98					0	0	1	0	0	A	56400738	G	A	56400738	3	1	81	1	0	0	0	0	1	0	0	0	1580	1059	37	1	4648	1	BZRAP1	17	56400738	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	5093	56400738	24794472	12538	16154											
RNF43	54894	broad.mit.edu	37	17	56438188	56438188	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:56438188C>A	ENST00000584437.1	-	6	2760	c.805G>T	c.(805-807)Gcc>Tcc	p.A269S	RNF43_ENST00000583753.1_Missense_Mutation_p.A228S|RNF43_ENST00000577625.1_Missense_Mutation_p.A142S|RNF43_ENST00000500597.2_Missense_Mutation_p.A228S|RNF43_ENST00000577716.1_Missense_Mutation_p.A269S|RNF43_ENST00000581868.1_Missense_Mutation_p.A142S|RNF43_ENST00000407977.2_Missense_Mutation_p.A269S|BZRAP1-AS1_ENST00000583841.1_RNA			Q68DV7	RNF43_HUMAN	ring finger protein 43	269						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)					CACACAGGGGCTGAGCTGCAG	0.632													14	17					1.49906e-05	1.6816e-05	1	1	0	A	56438188	C	A	56438188	3	1	81	1	0	0	0	0	1	0	0	0	13547	797	28	4	1562	4	RNF43	17	56438188	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	37450	56438188	24757022	12539	16155											
HSF5	124535	broad.mit.edu	37	17	56536281	56536281	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:56536281G>A	ENST00000323777.3	-	5	1677	c.1568C>T	c.(1567-1569)aCc>aTc	p.T523I		NM_001080439.1	NP_001073908.1	Q4G112	HSF5_HUMAN	heat shock transcription factor family member 5	523						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|skin(1)	16	Medulloblastoma(34;0.127)|all_neural(34;0.237)					ACGTGAACTGGTCTGGCATTT	0.398													8	202					0	0	1	0	0	A	56536281	G	A	56536281	3	1	81	1	0	0	0	0	1	0	0	0	7440	1261	44	2	230	2	HSF5	17	56536281	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	98093	56536281	24658929	12540	16156											
HSF5	124535	broad.mit.edu	37	17	56557567	56557567	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:56557567G>T	ENST00000323777.3	-	2	721	c.612C>A	c.(610-612)tcC>tcA	p.S204S		NM_001080439.1	NP_001073908.1	Q4G112	HSF5_HUMAN	heat shock transcription factor family member 5	204						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|skin(1)	16	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TTGATACACAGGAGTAAGGAG	0.448													8	63					7.48243e-07	8.64403e-07	1	1	0	T	56557567	G	T	56557567	2	4	81	1	0	0	0	0	0	0	0	1	7440	987	35	4		4	HSF5	17	56557567	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	21286	56557567	24637643	12541	16157											
MTMR4	9110	broad.mit.edu	37	17	56581192	56581192	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:56581192G>T	ENST00000323456.5	-	15	1848	c.1724C>A	c.(1723-1725)tCt>tAt	p.S575Y	MTMR4_ENST00000579925.1_Missense_Mutation_p.S518Y	NM_004687.4	NP_004678.3	Q9NYA4	MTMR4_HUMAN	myotubularin related protein 4	575						cytoplasm|membrane	metal ion binding|protein tyrosine phosphatase activity			breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TGTGCATGGAGATGATGCTGG	0.537													60	107					1.07751e-37	1.44519e-37	1	1	0	T	56581192	G	T	56581192	3	4	81	1	0	0	0	0	1	0	0	0	9994	942	33	4	1883	4	MTMR4	17	56581192	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	23625	56581192	24614018	12542	16158											
C17orf47	284083	broad.mit.edu	37	17	56619325	56619325	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:56619325C>T	ENST00000321691.3	-	2	1745	c.1564G>A	c.(1564-1566)Gtc>Atc	p.V522I	RP11-112H10.4_ENST00000580589.1_RNA|RP11-112H10.4_ENST00000578022.1_RNA|RP11-112H10.4_ENST00000580769.1_RNA	NM_001038704.2	NP_001033793	Q8NEP4	CQ047_HUMAN	chromosome 17 open reading frame 47	522										NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	24	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TCCTCAGAGACATCTGAAAGT	0.507													18	33					0	0	1	0	0	T	56619325	C	T	56619325	3	4	81	1	0	0	0	0	1	0	0	0	1867	478	17	2	152	2	C17orf47	17	56619325	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	38133	56619325	24575885	12543	16159											
C17orf47	284083	broad.mit.edu	37	17	56621448	56621448	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:56621448C>T	ENST00000321691.3	-	1	281	c.100G>A	c.(100-102)Gtt>Att	p.V34I	RP11-112H10.4_ENST00000580589.1_RNA|RP11-112H10.4_ENST00000578022.1_RNA|RP11-112H10.4_ENST00000580769.1_RNA	NM_001038704.2	NP_001033793	Q8NEP4	CQ047_HUMAN	chromosome 17 open reading frame 47	34										NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	24	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GAGGCAAGAACGTACCCATGT	0.532													31	43					0	0	1	0	0	T	56621448	C	T	56621448	3	4	81	1	0	0	0	0	1	0	0	0	1867	536	19	1	1620	1	C17orf47	17	56621448	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2123	56621448	24573762	12544	16160											
TEX14	56155	broad.mit.edu	37	17	56635179	56635179	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:56635179C>A	ENST00000389934.3	-	32	4537	c.4420G>T	c.(4420-4422)Ggt>Tgt	p.G1474C	TEX14_ENST00000349033.5_Missense_Mutation_p.G1434C|TEX14_ENST00000240361.8_Missense_Mutation_p.G1480C|TEX14_ENST00000584699.1_Intron	NM_001201457.1|NM_198393.3	NP_001188386.1|NP_938207.2	Q8IWB6	TEX14_HUMAN	testis expressed 14	1480						cytoplasm	ATP binding|protein kinase activity			breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TCGGACCAACCTAGTCGCTTC	0.348													37	79					5.20837e-25	6.88522e-25	1	1	0	A	56635179	C	A	56635179	3	1	81	1	0	0	0	0	1	0	0	0	15837	681	24	4	63	4	TEX14	17	56635179	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	13731	56635179	24560031	12545	16161											
TEX14	56155	broad.mit.edu	37	17	56647841	56647841	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:56647841C>A	ENST00000389934.3	-	26	3959	c.3842G>T	c.(3841-3843)aGa>aTa	p.R1281I	TEX14_ENST00000349033.5_Missense_Mutation_p.R1241I|TEX14_ENST00000240361.8_Missense_Mutation_p.R1287I	NM_001201457.1|NM_198393.3	NP_001188386.1|NP_938207.2	Q8IWB6	TEX14_HUMAN	testis expressed 14	1287						cytoplasm	ATP binding|protein kinase activity			breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TGAAGACAATCTTTTCTATAA	0.443													6	48					0.0381472	0.0389402	1	1	0	A	56647841	C	A	56647841	3	1	81	1	0	0	0	0	1	0	0	0	15837	913	32	4	665	4	TEX14	17	56647841	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	12662	56647841	24547369	12546	16162											
TEX14	56155	broad.mit.edu	37	17	56688591	56688591	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:56688591C>T	ENST00000389934.3	-	10	1232	c.1115G>A	c.(1114-1116)aGc>aAc	p.S372N	TEX14_ENST00000349033.5_Missense_Mutation_p.S372N|TEX14_ENST00000240361.8_Missense_Mutation_p.S378N	NM_001201457.1|NM_198393.3	NP_001188386.1|NP_938207.2	Q8IWB6	TEX14_HUMAN	testis expressed 14	378	Protein kinase.					cytoplasm	ATP binding|protein kinase activity			breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					AGCATAGGAGCTGAGGGAGCG	0.532													57	96					0	0	1	0	0	T	56688591	C	T	56688591	3	4	81	1	0	0	0	0	1	0	0	0	15837	797	28	2	3456	2	TEX14	17	56688591	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	40750	56688591	24506619	12547	16163											
TRIM37	4591	broad.mit.edu	37	17	57158493	57158493	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:57158493G>A	ENST00000376149.3	-	6	900	c.91C>T	c.(91-93)Cgt>Tgt	p.R31C	TRIM37_ENST00000393066.3_Missense_Mutation_p.R153C|TRIM37_ENST00000393065.2_Missense_Mutation_p.R119C|TRIM37_ENST00000262294.7_Missense_Mutation_p.R153C			O94972	TRI37_HUMAN	tripartite motif containing 37	153						perinuclear region of cytoplasm|peroxisome	ligase activity|protein binding|zinc ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(13)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					TCCATGAGACGCCGACGAAGT	0.318									Mulibrey Nanism				61	71					0	0	1	0	0	A	57158493	G	A	57158493	3	1	81	1	0	0	0	0	1	0	0	0	16572	1087	38	1	2521	1	TRIM37	17	57158493	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	469902	57158493	24036717	12548	16164											
YPEL2	388403	broad.mit.edu	37	17	57465709	57465709	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:57465709C>T	ENST00000312655.4	+	3	457	c.139C>T	c.(139-141)Cga>Tga	p.R47*	YPEL2_ENST00000585166.1_Nonsense_Mutation_p.R47*|YPEL2_ENST00000581865.1_3'UTR	NM_001005404.3	NP_001005404.1	Q96QA6	YPEL2_HUMAN	yippee-like 2 (Drosophila)	47						nucleolus				endometrium(1)|large_intestine(1)|lung(3)	5	all_neural(34;0.0837)|Medulloblastoma(34;0.0922)					AAGTCAAGGACGAGCATACCT	0.418													12	136					0	0	1	0	0	T	57465709	C	T	57465709	4	4	81	1	0	0	0	0	0	1	0	0	17550	528	19	1	145	1	YPEL2	17	57465709	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	307216	57465709	23729501	12549	16165											
DHX40	79665	broad.mit.edu	37	17	57644083	57644083	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:57644083T>C	ENST00000251241.4	+	2	355	c.208T>C	c.(208-210)Tca>Cca	p.S70P	DHX40_ENST00000451169.2_5'UTR|DHX40_ENST00000425628.3_Intron	NM_024612.4	NP_078888.4	Q8IX18	DHX40_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 40	70	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|nucleic acid binding			endometrium(7)|large_intestine(6)|lung(6)|prostate(1)	20	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					GAGGGACAATTCATTCCTTAT	0.363													8	48					0	0	1	0	0	C	57644083	T	C	57644083	3	2	81	1	0	0	0	0	1	0	0	0	4540	1783	62	3	214	3	DHX40	17	57644083	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	178374	57644083	23551127	12550	16166											
DHX40	79665	broad.mit.edu	37	17	57682891	57682891	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:57682891C>T	ENST00000451169.2	+	20	2271	c.1912C>T	c.(1912-1914)Cca>Tca	p.P638S	DHX40_ENST00000251241.4_Missense_Mutation_p.P686S|DHX40_ENST00000425628.3_Missense_Mutation_p.P609S			Q8IX18	DHX40_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 40	686							ATP binding|ATP-dependent helicase activity|nucleic acid binding			endometrium(7)|large_intestine(6)|lung(6)|prostate(1)	20	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					AATTGTATGCCCAATCCGTTA	0.403													21	29					0	0	1	0	0	T	57682891	C	T	57682891	3	4	81	1	0	0	0	0	1	0	0	0	4540	623	22	2	2122	2	DHX40	17	57682891	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	38808	57682891	23512319	12551	16167											
CLTC	1213	broad.mit.edu	37	17	57746275	57746275	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:57746275C>T	ENST00000269122.3	+	14	2540	c.2266C>T	c.(2266-2268)Cct>Tct	p.P756S	CLTC_ENST00000393043.1_Missense_Mutation_p.P756S|CLTC_ENST00000579456.1_Intron	NM_004859.3	NP_004850.1	Q00610	CLH1_HUMAN	clathrin, heavy chain (Hc)	756	Heavy chain arm.|Proximal segment.				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|mitosis|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport|receptor internalization|transferrin transport	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol|melanosome|spindle	protein binding|structural molecule activity		CLTC/ALK(44)|CLTC/TFE3(2)	breast(2)|large_intestine(6)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					CTGCTACGATCCTGAGCGAGT	0.413			T	"ALK, TFE3"	"ALCL, renal "								11	42					0	0	1	0	0	T	57746275	C	T	57746275	3	4	81	1	0	0	0	0	1	0	0	0	3589	855	30	2	2320	2	CLTC	17	57746275	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	63384	57746275	23448935	12552	16168											
CLTC	1213	broad.mit.edu	37	17	57760372	57760372	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:57760372T>C	ENST00000269122.3	+	24	4144	c.3870T>C	c.(3868-3870)taT>taC	p.Y1290Y	CLTC_ENST00000393043.1_Silent_p.Y1290Y|CLTC_ENST00000579456.1_Silent_p.Y227Y	NM_004859.3	NP_004850.1	Q00610	CLH1_HUMAN	clathrin, heavy chain (Hc)	1290	Heavy chain arm.|Involved in binding clathrin light chain (By similarity).|Proximal segment.				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|mitosis|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport|receptor internalization|transferrin transport	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol|melanosome|spindle	protein binding|structural molecule activity		CLTC/ALK(44)|CLTC/TFE3(2)	breast(2)|large_intestine(6)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					TCAACTACTATCAGGTATTAA	0.368			T	"ALK, TFE3"	"ALCL, renal "								6	85					0	0	1	0	0	C	57760372	T	C	57760372	2	2	81	1	0	0	0	0	0	0	0	1	3589	1442	50	3		3	CLTC	17	57760372	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	14097	57760372	23434838	12553	16169											
CLTC	1213	broad.mit.edu	37	17	57762508	57762508	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:57762508G>A	ENST00000269122.3	+	29	4800	c.4526G>A	c.(4525-4527)aGa>aAa	p.R1509K	CLTC_ENST00000393043.1_Missense_Mutation_p.R1509K|CLTC_ENST00000579456.1_Missense_Mutation_p.R446K	NM_004859.3	NP_004850.1	Q00610	CLH1_HUMAN	clathrin, heavy chain (Hc)	1509	Heavy chain arm.|Involved in binding clathrin light chain (By similarity).|Proximal segment.				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|mitosis|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport|receptor internalization|transferrin transport	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol|melanosome|spindle	protein binding|structural molecule activity		CLTC/ALK(44)|CLTC/TFE3(2)	breast(2)|large_intestine(6)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					GAGTTCAGGAGAATTGCTGCT	0.418			T	"ALK, TFE3"	"ALCL, renal "								43	72					0	0	1	0	0	A	57762508	G	A	57762508	3	1	81	1	0	0	0	0	1	0	0	0	3589	942	33	2	4640	2	CLTC	17	57762508	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2136	57762508	23432702	12554	16170											
TUBD1	51174	broad.mit.edu	37	17	57941091	57941091	+	Missense_Mutation	SNP	T	T	G	rs76302921		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:57941091T>G	ENST00000325752.3	-	8	1470	c.1193A>C	c.(1192-1194)aAc>aCc	p.N398T	TUBD1_ENST00000394239.3_Intron|TUBD1_ENST00000592426.1_Missense_Mutation_p.N398T|TUBD1_ENST00000376094.4_Missense_Mutation_p.N296T|TUBD1_ENST00000340993.6_Missense_Mutation_p.N343T|TUBD1_ENST00000346141.6_Missense_Mutation_p.N144T|TUBD1_ENST00000539018.1_Missense_Mutation_p.N182T	NM_016261.3	NP_057345.2	Q9UJT1	TBD_HUMAN	tubulin, delta 1	398				N -> D (in Ref. 3; BAB14825).	cell differentiation|microtubule-based movement|multicellular organismal development|protein polymerization|spermatogenesis	centriole|microtubule|nucleus	GTP binding|GTPase activity|structural molecule activity			NS(2)|breast(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(2)	21	all_cancers(5;3.18e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;9.34e-13)|all cancers(12;1.91e-11)			GAACTGGCTGTTGCTGACCAA	0.398													38	62					0	0	1	0	0	G	57941091	T	G	57941091	3	3	81	1	0	0	0	0	1	0	0	0	16824	1725	60	5	176	5	TUBD1	17	57941091	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	178583	57941091	23254119	12555	16171											
TUBD1	51174	broad.mit.edu	37	17	57943976	57943976	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:57943976C>A	ENST00000325752.3	-	7	1346	c.1069G>T	c.(1069-1071)Gat>Tat	p.D357Y	TUBD1_ENST00000394239.3_Missense_Mutation_p.D357Y|TUBD1_ENST00000592426.1_Missense_Mutation_p.D357Y|TUBD1_ENST00000376094.4_Intron|TUBD1_ENST00000340993.6_Missense_Mutation_p.D302Y|TUBD1_ENST00000346141.6_Missense_Mutation_p.D103Y|TUBD1_ENST00000539018.1_Missense_Mutation_p.D141Y	NM_016261.3	NP_057345.2	Q9UJT1	TBD_HUMAN	tubulin, delta 1	357					cell differentiation|microtubule-based movement|multicellular organismal development|protein polymerization|spermatogenesis	centriole|microtubule|nucleus	GTP binding|GTPase activity|structural molecule activity			NS(2)|breast(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(2)	21	all_cancers(5;3.18e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;9.34e-13)|all cancers(12;1.91e-11)			TTACCCACATCTGCACTTTGC	0.373													29	48					1.80694e-10	2.21318e-10	1	1	0	A	57943976	C	A	57943976	3	1	81	1	0	0	0	0	1	0	0	0	16824	913	32	4	304	4	TUBD1	17	57943976	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2885	57943976	23251234	12556	16172											
RPS6KB1	6198	broad.mit.edu	37	17	58024066	58024066	+	Nonsense_Mutation	SNP	C	C	T	rs149039467		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:58024066C>T	ENST00000225577.4	+	15	1516	c.1495C>T	c.(1495-1497)Cga>Tga	p.R499*	RPS6KB1_ENST00000406116.3_Intron|RPS6KB1_ENST00000393021.3_Nonsense_Mutation_p.R446*|RPS6KB1_ENST00000443572.2_Nonsense_Mutation_p.R476*|RP11-178C3.1_ENST00000591035.1_Intron	NM_001272042.1|NM_001272044.1|NM_001272060.1|NM_003161.2	NP_001258971.1|NP_001258973.1|NP_001258989.1|NP_003152.1	P23443	KS6B1_HUMAN	ribosomal protein S6 kinase, 70kDa, polypeptide 1	499	Autoinhibitory domain.				apoptosis|G1/S transition of mitotic cell cycle|insulin receptor signaling pathway|negative regulation of apoptosis|phosphatidylinositol-mediated signaling|positive regulation of mitotic cell cycle|positive regulation of translational initiation|TOR signaling cascade	cell junction|cytoplasm|cytosol|mitochondrial outer membrane|nucleus|synapse|synaptosome	ATP binding|protein binding|protein kinase activity			endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	14	all_cancers(5;1.63e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.57e-12)|all cancers(12;6.41e-11)			ACTTCCAATACGACAGCCGAA	0.473													17	32					0	0	1	0	0	T	58024066	C	T	58024066	4	4	81	1	0	0	0	0	0	1	0	0	13708	528	19	1	1553	1	RPS6KB1	17	58024066	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	80090	58024066	23171144	12557	16173											
HEATR6	63897	broad.mit.edu	37	17	58121016	58121016	+	Silent	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:58121016T>G	ENST00000184956.6	-	20	3470	c.3454A>C	c.(3454-3456)Agg>Cgg	p.R1152R	HEATR6_ENST00000585976.1_Silent_p.R1040R	NM_022070.4	NP_071353.4	Q6AI08	HEAT6_HUMAN	HEAT repeat containing 6	1152							binding			NS(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	44	all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10)			ATGATGGCCCTTCTGGCTGTG	0.527													17	57					0	0	1	0	0	G	58121016	T	G	58121016	2	3	81	1	0	0	0	0	0	0	0	1	7074	1608	56	5		5	HEATR6	17	58121016	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	96950	58121016	23074194	12558	16174											
HEATR6	63897	broad.mit.edu	37	17	58121478	58121478	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:58121478A>G	ENST00000184956.6	-	20	3008	c.2992T>C	c.(2992-2994)Tcc>Ccc	p.S998P	HEATR6_ENST00000585976.1_Missense_Mutation_p.S886P	NM_022070.4	NP_071353.4	Q6AI08	HEAT6_HUMAN	HEAT repeat containing 6	998							binding			NS(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	44	all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10)			TAGGCCTGGGAGGTCCATGGG	0.532													7	71					0	0	1	0	0	G	58121478	A	G	58121478	3	3	81	1	0	0	0	0	1	0	0	0	7074	304	11	3	557	3	HEATR6	17	58121478	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	462	58121478	23073732	12559	16175											
HEATR6	63897	broad.mit.edu	37	17	58125691	58125691	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:58125691G>T	ENST00000184956.6	-	17	2622	c.2606C>A	c.(2605-2607)tCt>tAt	p.S869Y	HEATR6_ENST00000585976.1_Missense_Mutation_p.S757Y	NM_022070.4	NP_071353.4	Q6AI08	HEAT6_HUMAN	HEAT repeat containing 6	869							binding			NS(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	44	all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10)			AACATTCAGAGACTTGTCTTC	0.453													10	18					1.58986e-06	1.82794e-06	1	1	0	T	58125691	G	T	58125691	3	4	81	1	0	0	0	0	1	0	0	0	7074	942	33	4	955	4	HEATR6	17	58125691	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	4213	58125691	23069519	12560	16176											
HEATR6	63897	broad.mit.edu	37	17	58133519	58133519	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:58133519C>A	ENST00000184956.6	-	13	2175	c.2159G>T	c.(2158-2160)tGc>tTc	p.C720F	HEATR6_ENST00000585976.1_Intron	NM_022070.4	NP_071353.4	Q6AI08	HEAT6_HUMAN	HEAT repeat containing 6	720							binding			NS(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	44	all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10)			TTCCCCCATGCACTTGCAAAT	0.428													43	84					7.77092e-38	1.04233e-37	1	1	0	A	58133519	C	A	58133519	3	1	81	1	0	0	0	0	1	0	0	0	7074	710	25	5	1418	5	HEATR6	17	58133519	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	7828	58133519	23061691	12561	16177											
HEATR6	63897	broad.mit.edu	37	17	58134674	58134674	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:58134674T>C	ENST00000184956.6	-	12	1830	c.1814A>G	c.(1813-1815)cAg>cGg	p.Q605R	HEATR6_ENST00000585976.1_Missense_Mutation_p.Q605R	NM_022070.4	NP_071353.4	Q6AI08	HEAT6_HUMAN	HEAT repeat containing 6	605							binding			NS(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	44	all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10)			AGAACATGGCTGTTGCAGAAG	0.502													4	54					0	0	1	0	0	C	58134674	T	C	58134674	3	2	81	1	0	0	0	0	1	0	0	0	7074	1580	55	3	1767	3	HEATR6	17	58134674	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	1155	58134674	23060536	12562	16178											
USP32	84669	broad.mit.edu	37	17	58260799	58260799	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:58260799G>A	ENST00000300896.4	-	31	4044	c.3850C>T	c.(3850-3852)Cga>Tga	p.R1284*	USP32_ENST00000592339.1_Nonsense_Mutation_p.R954*	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	ubiquitin specific peptidase 32	1284					protein deubiquitination|ubiquitin-dependent protein catabolic process	Golgi apparatus|membrane	calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			AATTGAAATCGCTTAAGGTGA	0.343													37	42					0	0	1	0	0	A	58260799	G	A	58260799	4	1	81	1	0	0	0	0	0	1	0	0	17123	1095	38	1	980	1	USP32	17	58260799	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	126125	58260799	22934411	12563	16179											
USP32	84669	broad.mit.edu	37	17	58267980	58267980	+	Missense_Mutation	SNP	C	C	T	rs145667783		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:58267980C>T	ENST00000300896.4	-	29	3780	c.3586G>A	c.(3586-3588)Gct>Act	p.A1196T	USP32_ENST00000592339.1_Missense_Mutation_p.A866T	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	ubiquitin specific peptidase 32	1196					protein deubiquitination|ubiquitin-dependent protein catabolic process	Golgi apparatus|membrane	calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			CAATCCACAGCGATATAGGCA	0.423													14	129					0	0	1	0	0	T	58267980	C	T	58267980	3	4	81	1	0	0	0	0	1	0	0	0	17123	768	27	1	1252	1	USP32	17	58267980	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	7181	58267980	22927230	12564	16180											
USP32	84669	broad.mit.edu	37	17	58275770	58275770	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:58275770C>T	ENST00000300896.4	-	27	3479	c.3285G>A	c.(3283-3285)aaG>aaA	p.K1095K	USP32_ENST00000592339.1_Silent_p.K765K	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	ubiquitin specific peptidase 32	1095					protein deubiquitination|ubiquitin-dependent protein catabolic process	Golgi apparatus|membrane	calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			TGGGGCGATTCTTCTGAGATG	0.443													25	40					0	0	1	0	0	T	58275770	C	T	58275770	2	4	81	1	0	0	0	0	0	0	0	1	17123	912	32	2		2	USP32	17	58275770	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	7790	58275770	22919440	12565	16181											
APPBP2	10513	broad.mit.edu	37	17	58538038	58538038	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:58538038T>G	ENST00000083182.3	-	9	1334	c.1047A>C	c.(1045-1047)aaA>aaC	p.K349N	APPBP2_ENST00000592995.1_5'UTR	NM_001282476.1|NM_006380.2	NP_001269405.1|NP_006371.2	Q92624	APBP2_HUMAN	amyloid beta precursor protein (cytoplasmic tail) binding protein 2	349					intracellular protein transport	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|nucleus	microtubule motor activity|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(17)|pancreas(1)|urinary_tract(1)	25	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.67e-13)|all cancers(12;1.44e-11)|Colorectal(3;0.01)			CATTGTCAAATTTCCCAGAGC	0.368													3	49					0	0	1	0	0	G	58538038	T	G	58538038	3	3	81	1	0	0	0	0	1	0	0	0	813	1490	52	4	730	4	APPBP2	17	58538038	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	262268	58538038	22657172	12566	16182											
PPM1D	8493	broad.mit.edu	37	17	58701094	58701094	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:58701094G>A	ENST00000305921.3	+	2	917	c.685G>A	c.(685-687)Gaa>Aaa	p.E229K		NM_003620.3	NP_003611.1	O15297	PPM1D_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1D	229	PP2C-like.				negative regulation of cell proliferation|protein dephosphorylation|response to radiation	nucleus|protein serine/threonine phosphatase complex	metal ion binding|protein binding|protein serine/threonine phosphatase activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	15	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;6.75e-12)|all cancers(12;1.96e-10)			AGAACGAATCGAAGGACTTGG	0.433													11	21					0	0	1	0	0	A	58701094	G	A	58701094	3	1	81	1	0	0	0	0	1	0	0	0	12386	1059	37	1	691	1	PPM1D	17	58701094	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	163056	58701094	22494116	12567	16183											
PPM1D	8493	broad.mit.edu	37	17	58734076	58734076	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:58734076A>G	ENST00000305921.3	+	5	1366	c.1134A>G	c.(1132-1134)gaA>gaG	p.E378E		NM_003620.3	NP_003611.1	O15297	PPM1D_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1D	378	PP2C-like.				negative regulation of cell proliferation|protein dephosphorylation|response to radiation	nucleus|protein serine/threonine phosphatase complex	metal ion binding|protein binding|protein serine/threonine phosphatase activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	15	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;6.75e-12)|all cancers(12;1.96e-10)			TCTCTCCAGAAGTGGACAATC	0.463													6	72					0	0	1	0	0	G	58734076	A	G	58734076	2	3	81	1	0	0	0	0	0	0	0	1	12386	69	3	3		3	PPM1D	17	58734076	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	32982	58734076	22461134	12568	16184											
BCAS3	54828	broad.mit.edu	37	17	58952033	58952033	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:58952033G>A	ENST00000589222.1	+	9	663	c.595G>A	c.(595-597)Gta>Ata	p.V199I	BCAS3_ENST00000408905.3_Missense_Mutation_p.V199I|BCAS3_ENST00000407086.3_Missense_Mutation_p.V199I|BCAS3_ENST00000390652.5_Missense_Mutation_p.V199I|BCAS3_ENST00000588462.1_Missense_Mutation_p.V199I			Q9H6U6	BCAS3_HUMAN	breast carcinoma amplified sequence 3	199				VV -> II (in Ref. 2; BAB15156).		nucleus				NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44			BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)			GATCCTTGTCGTAGTCTTGCA	0.323													23	35					0	0	1	0	0	A	58952033	G	A	58952033	3	1	81	1	0	0	0	0	1	0	0	0	1350	1145	40	1	625	1	BCAS3	17	58952033	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	217957	58952033	22243177	12569	16185											
BCAS3	54828	broad.mit.edu	37	17	59067480	59067480	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:59067480G>A	ENST00000589222.1	+	15	1438	c.1370G>A	c.(1369-1371)cGt>cAt	p.R457H	BCAS3_ENST00000408905.3_Missense_Mutation_p.R457H|BCAS3_ENST00000585744.1_Missense_Mutation_p.R228H|BCAS3_ENST00000588874.1_Missense_Mutation_p.R228H|BCAS3_ENST00000407086.3_Missense_Mutation_p.R457H|BCAS3_ENST00000390652.5_Missense_Mutation_p.R457H|BCAS3_ENST00000588462.1_Missense_Mutation_p.R457H			Q9H6U6	BCAS3_HUMAN	breast carcinoma amplified sequence 3	457						nucleus				NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44			BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)			CGCATGAGCCGTTTCCAGAAA	0.512													10	27					0	0	1	0	0	A	59067480	G	A	59067480	3	1	81	1	0	0	0	0	1	0	0	0	1350	1145	40	1	1424	1	BCAS3	17	59067480	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	115447	59067480	22127730	12570	16186											
BCAS3	54828	broad.mit.edu	37	17	59112048	59112048	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:59112048A>G	ENST00000589222.1	+	17	1727	c.1659A>G	c.(1657-1659)caA>caG	p.Q553Q	BCAS3_ENST00000408905.3_Silent_p.Q553Q|BCAS3_ENST00000585744.1_Silent_p.Q339Q|BCAS3_ENST00000588874.1_Silent_p.Q324Q|BCAS3_ENST00000407086.3_Silent_p.Q553Q|BCAS3_ENST00000390652.5_Silent_p.Q568Q|RP11-264B14.1_ENST00000588604.1_RNA|BCAS3_ENST00000588462.1_Silent_p.Q568Q			Q9H6U6	BCAS3_HUMAN	breast carcinoma amplified sequence 3	568						nucleus				NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44			BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)			CTCCTCCACAAATTTCACCCA	0.353													6	63					0	0	1	0	0	G	59112048	A	G	59112048	2	3	81	1	0	0	0	0	0	0	0	1	1350	11	1	3		3	BCAS3	17	59112048	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	44568	59112048	22083162	12571	16187											
BCAS3	54828	broad.mit.edu	37	17	59115389	59115389	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:59115389G>A	ENST00000589222.1	+	18	1970	c.1902G>A	c.(1900-1902)tcG>tcA	p.S634S	BCAS3_ENST00000408905.3_Silent_p.S634S|BCAS3_ENST00000585744.1_Silent_p.S420S|BCAS3_ENST00000588874.1_Silent_p.S405S|BCAS3_ENST00000407086.3_Silent_p.S634S|BCAS3_ENST00000390652.5_Silent_p.S649S|RP11-264B14.1_ENST00000588604.1_RNA|BCAS3_ENST00000588462.1_Silent_p.S649S			Q9H6U6	BCAS3_HUMAN	breast carcinoma amplified sequence 3	649						nucleus				NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44			BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)			TGATGACATCGCCTCGAGCCA	0.438													26	41					0	0	1	0	0	A	59115389	G	A	59115389	2	1	81	1	0	0	0	0	0	0	0	1	1350	1074	38	1		1	BCAS3	17	59115389	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	3341	59115389	22079821	12572	16188											
BCAS3	54828	broad.mit.edu	37	17	59457913	59457913	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:59457913C>T	ENST00000589222.1	+	24	2708	c.2640C>T	c.(2638-2640)caC>caT	p.H880H	BCAS3_ENST00000408905.3_Silent_p.H880H|BCAS3_ENST00000585744.1_Intron|BCAS3_ENST00000588874.1_Intron|BCAS3_ENST00000585812.1_3'UTR|RP11-332H18.5_ENST00000585765.1_RNA|BCAS3_ENST00000407086.3_Intron|BCAS3_ENST00000390652.5_Intron|BCAS3_ENST00000588462.1_Silent_p.H895H			Q9H6U6	BCAS3_HUMAN	breast carcinoma amplified sequence 3	0						nucleus				NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44			BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)			CTGAGAGACACGTGGCAGTGA	0.463													3	17					0	0	1	0	0	T	59457913	C	T	59457913	2	4	81	1	0	0	0	0	0	0	0	1	1350	551	19	1		1	BCAS3	17	59457913	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	342524	59457913	21737297	12573	16189											
BCAS3	54828	broad.mit.edu	37	17	59469378	59469378	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:59469378C>T	ENST00000588462.1	+	25	2745	c.2745C>T	c.(2743-2745)agC>agT	p.S915S	BCAS3_ENST00000408905.3_Silent_p.S900S|BCAS3_ENST00000589222.1_3'UTR|BCAS3_ENST00000585744.1_Silent_p.S664S|BCAS3_ENST00000588874.1_Silent_p.S649S|BCAS3_ENST00000585812.1_3'UTR|RP11-332H18.5_ENST00000585765.1_RNA|BCAS3_ENST00000407086.3_Silent_p.S878S|BCAS3_ENST00000390652.5_Silent_p.S893S			Q9H6U6	BCAS3_HUMAN	breast carcinoma amplified sequence 3	893						nucleus				NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44			BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)			TGAGTAACAGCTCAGGCTCCA	0.597													37	48					0	0	1	0	0	T	59469378	C	T	59469378	2	4	81	1	0	0	0	0	0	0	0	1	1350	796	28	2		2	BCAS3	17	59469378	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	11465	59469378	21725832	12574	16190											
INTS2	57508	broad.mit.edu	37	17	59955432	59955432	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:59955432C>A	ENST00000444766.3	-	18	2371	c.2296G>T	c.(2296-2298)Gta>Tta	p.V766L	INTS2_ENST00000251334.6_Missense_Mutation_p.V758L	NM_020748.2	NP_065799	Q9H0H0	INT2_HUMAN	integrator complex subunit 2	766					snRNA processing	integral to membrane|integrator complex|nuclear membrane	protein binding			NS(1)|breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	38						GTGTTATTTACTGGGACAGCT	0.363													17	40					4.7546e-09	5.70666e-09	1	1	0	A	59955432	C	A	59955432	3	1	81	1	0	0	0	0	1	0	0	0	7822	565	20	4	1350	4	INTS2	17	59955432	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	486054	59955432	21239778	12575	16191											
MED13	9969	broad.mit.edu	37	17	60060019	60060019	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:60060019C>T	ENST00000397786.2	-	16	3421	c.3345G>A	c.(3343-3345)acG>acA	p.T1115T		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	1115					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						GTGCTTCCTGCGTTGGATCTG	0.378													10	129					0	0	1	0	0	T	60060019	C	T	60060019	2	4	81	1	0	0	0	0	0	0	0	1	9480	755	27	1		1	MED13	17	60060019	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	104587	60060019	21135191	12576	16192											
MED13	9969	broad.mit.edu	37	17	60072628	60072628	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:60072628G>A	ENST00000397786.2	-	10	2142	c.2066C>T	c.(2065-2067)gCa>gTa	p.A689V		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	689					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						TTCTTGTTCTGCATCAGATGC	0.333													18	102					0	0	1	0	0	A	60072628	G	A	60072628	3	1	81	1	0	0	0	0	1	0	0	0	9480	1319	46	2	4542	2	MED13	17	60072628	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	12609	60072628	21122582	12577	16193											
MED13	9969	broad.mit.edu	37	17	60108947	60108947	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:60108947G>A	ENST00000397786.2	-	6	943	c.867C>T	c.(865-867)gaC>gaT	p.D289D	MED13_ENST00000580896.1_5'UTR	NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	289					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						GAGTAGGAATGTCTGACTGAG	0.483													10	16					0	0	1	0	0	A	60108947	G	A	60108947	2	1	81	1	0	0	0	0	0	0	0	1	9480	1368	48	2		2	MED13	17	60108947	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	36319	60108947	21086263	12578	16194											
METTL2A	339175	broad.mit.edu	37	17	60504004	60504004	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:60504004C>T	ENST00000311506.5	+	3	583	c.547C>T	c.(547-549)Cga>Tga	p.R183*		NM_181725.3	NP_859076.3	Q96IZ6	MTL2A_HUMAN	methyltransferase like 2A	183							methyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(1)|upper_aerodigestive_tract(2)	6			BRCA - Breast invasive adenocarcinoma(2;1.08e-10)			AGCCACCTACCGAATACTGGA	0.408													9	9					0	0	1	0	0	T	60504004	C	T	60504004	4	4	81	1	0	0	0	0	0	1	0	0	9549	644	23	1	557	1	METTL2A	17	60504004	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	395057	60504004	20691206	12579	16195											
TLK2	11011	broad.mit.edu	37	17	60678165	60678165	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:60678165C>A	ENST00000582809.1	+	19	1960	c.1257C>A	c.(1255-1257)caC>caA	p.H419Q	TLK2_ENST00000326270.9_Missense_Mutation_p.H590Q|TLK2_ENST00000542523.1_Missense_Mutation_p.H536Q|TLK2_ENST00000346027.5_Missense_Mutation_p.H568Q|TLK2_ENST00000343388.7_Missense_Mutation_p.H536Q			Q86UE8	TLK2_HUMAN	tousled-like kinase 2	590					cell cycle|chromatin modification|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(4)|large_intestine(6)|liver(2)|lung(10)|prostate(1)|stomach(1)|urinary_tract(1)	39						CCATCATACACTATGACCTCA	0.343													6	60					3.59834e-05	3.99423e-05	1	1	0	A	60678165	C	A	60678165	3	1	81	1	0	0	0	0	1	0	0	0	16004	564	20	4	1770	4	TLK2	17	60678165	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	174161	60678165	20517045	12580	16196											
MRC2	9902	broad.mit.edu	37	17	60749358	60749358	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:60749358G>T	ENST00000303375.5	+	8	1708		c.e8-1			NM_006039.4	NP_006030.2	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2						endocytosis	integral to membrane	receptor activity|sugar binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						TGCACCCCCAGAGGTGGAGGA	0.557													5	84					3.59834e-05	3.99423e-05	1	1	0	T	60749358	G	T	60749358	5	4	81	1	0	0	0	0	0	0	1	0	9807	956	33	4	1336	4	MRC2	17	60749358	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	71193	60749358	20445852	12581	16197											
MRC2	9902	broad.mit.edu	37	17	60765893	60765893	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:60765893C>A	ENST00000303375.5	+	22	3495	c.3093C>A	c.(3091-3093)acC>acA	p.T1031T	MRC2_ENST00000446119.2_5'UTR	NM_006039.4	NP_006030.2	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2	1031	C-type lectin 6.				endocytosis	integral to membrane	receptor activity|sugar binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						CCAATGTGACCTTTGACCTTT	0.552													6	150					0.00116845	0.00124301	1	1	0	A	60765893	C	A	60765893	2	1	81	1	0	0	0	0	0	0	0	1	9807	668	24	4		4	MRC2	17	60765893	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	16535	60765893	20429317	12582	16198											
MARCH10	162333	broad.mit.edu	37	17	60813930	60813930	+	Silent	SNP	G	G	T	rs147951735	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:60813930G>T	ENST00000544856.2	-	7	1674	c.1296C>A	c.(1294-1296)acC>acA	p.T432T	MARCH10_ENST00000311269.5_Silent_p.T433T|RP11-156L14.1_ENST00000577270.1_RNA|MARCH10_ENST00000583600.1_Silent_p.T471T|RP11-156L14.1_ENST00000582564.1_RNA|MARCH10_ENST00000456609.2_Silent_p.T433T			Q8NA82	MARHA_HUMAN	membrane-associated ring finger (C3HC4) 10, E3 ubiquitin protein ligase	433							ligase activity|zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15)	38						CAGAATCATGGGTGCCAGGCC	0.418													6	107					0.0293803	0.0300537	1	1	0	T	60813930	G	T	60813930	2	4	81	1	0	0	0	0	0	0	0	1	9349	1219	43	5		5	MARCH10	17	60813930	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	48037	60813930	20381280	12583	16199											
MARCH10	162333	broad.mit.edu	37	17	60865889	60865889	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:60865889C>A	ENST00000544856.2	-	4	540	c.162G>T	c.(160-162)gaG>gaT	p.E54D	MARCH10_ENST00000311269.5_Missense_Mutation_p.E54D|MARCH10_ENST00000583600.1_Missense_Mutation_p.E54D|MARCH10_ENST00000456609.2_Missense_Mutation_p.E54D			Q8NA82	MARHA_HUMAN	membrane-associated ring finger (C3HC4) 10, E3 ubiquitin protein ligase	54							ligase activity|zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15)	38						CAAAACTTGTCTCTTGCCCCC	0.463													6	57					2.7689e-08	3.2887e-08	1	1	0	A	60865889	C	A	60865889	3	1	81	1	0	0	0	0	1	0	0	0	9349	912	32	4	2300	4	MARCH10	17	60865889	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	51959	60865889	20329321	12584	16200											
MARCH10	162333	broad.mit.edu	37	17	60879033	60879033	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:60879033G>A	ENST00000544856.2	-	3	442	c.64C>T	c.(64-66)Cag>Tag	p.Q22*	MARCH10_ENST00000311269.5_Nonsense_Mutation_p.Q22*|MARCH10_ENST00000583600.1_Nonsense_Mutation_p.Q22*|MARCH10_ENST00000456609.2_Nonsense_Mutation_p.Q22*			Q8NA82	MARHA_HUMAN	membrane-associated ring finger (C3HC4) 10, E3 ubiquitin protein ligase	22							ligase activity|zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15)	38						ACCTTATGCTGCATGTCCCGC	0.438													61	79					0	0	1	0	0	A	60879033	G	A	60879033	4	1	81	1	0	0	0	0	0	1	0	0	9349	1328	46	2	2402	2	MARCH10	17	60879033	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	13144	60879033	20316177	12585	16201											
TANC2	26115	broad.mit.edu	37	17	61392000	61392000	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:61392000G>A	ENST00000424789.2	+	8	1193	c.1189G>A	c.(1189-1191)Gcc>Acc	p.A397T	AC037445.1_ENST00000581421.1_RNA|TANC2_ENST00000389520.4_Missense_Mutation_p.A397T	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	397							binding	p.A397T(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						GAGACAGATCGCCTCAGACAG	0.473													36	76					0	0	1	0	0	A	61392000	G	A	61392000	3	1	81	1	0	0	0	0	1	0	0	0	15602	1087	38	1	1219	1	TANC2	17	61392000	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	512967	61392000	19803210	12586	16202											
TANC2	26115	broad.mit.edu	37	17	61498030	61498030	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:61498030C>T	ENST00000424789.2	+	25	4691	c.4687C>T	c.(4687-4689)Cgc>Tgc	p.R1563C	RP11-269G24.3_ENST00000583552.1_RNA|TANC2_ENST00000389520.4_Missense_Mutation_p.R1573C	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	1563							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						TTCACCCGTGCGCTATCAGCA	0.577													14	21					0	0	1	0	0	T	61498030	C	T	61498030	3	4	81	1	0	0	0	0	1	0	0	0	15602	768	27	1	4785	1	TANC2	17	61498030	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	106030	61498030	19697180	12587	16203											
TANC2	26115	broad.mit.edu	37	17	61498942	61498942	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:61498942A>G	ENST00000424789.2	+	25	5603	c.5599A>G	c.(5599-5601)Acc>Gcc	p.T1867A	RP11-269G24.3_ENST00000583552.1_RNA|TANC2_ENST00000389520.4_Missense_Mutation_p.T1877A	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	1867							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						GCAGAATCGGACCTGGGCAGT	0.577													5	56					0	0	1	0	0	G	61498942	A	G	61498942	3	3	81	1	0	0	0	0	1	0	0	0	15602	275	10	3	5697	3	TANC2	17	61498942	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	912	61498942	19696268	12588	16204											
TANC2	26115	broad.mit.edu	37	17	61499143	61499143	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:61499143C>A	ENST00000424789.2	+	25	5804	c.5800C>A	c.(5800-5802)Ctc>Atc	p.L1934I	RP11-269G24.3_ENST00000583552.1_RNA|TANC2_ENST00000389520.4_Missense_Mutation_p.L1944I	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	1934							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						TCGTGGAGACCTCTTGGAGCG	0.542													6	49					0.0215528	0.0221217	1	1	0	A	61499143	C	A	61499143	3	1	81	1	0	0	0	0	1	0	0	0	15602	681	24	4	5898	4	TANC2	17	61499143	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	201	61499143	19696067	12589	16205											
CYB561	1534	broad.mit.edu	37	17	61511949	61511949	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:61511949C>A	ENST00000392976.1	-	6	869	c.570G>T	c.(568-570)aaG>aaT	p.K190N	CYB561_ENST00000584031.1_3'UTR|CYB561_ENST00000582297.1_Intron|CYB561_ENST00000582997.1_Missense_Mutation_p.K197N|CYB561_ENST00000581573.1_Missense_Mutation_p.K190N|CYB561_ENST00000542042.1_Missense_Mutation_p.K257N|CYB561_ENST00000392975.2_Missense_Mutation_p.K190N|CYB561_ENST00000360793.3_Missense_Mutation_p.K190N|CYB561_ENST00000448884.2_Missense_Mutation_p.V138L|CYB561_ENST00000582034.1_Missense_Mutation_p.K161N|CYB561_ENST00000581163.1_5'UTR	NM_001017916.1	NP_001017916.1	P49447	CY561_HUMAN	cytochrome b561	190	Cytochrome b561.				electron transport chain|transport	integral to plasma membrane	cytochrome-b5 reductase activity|ferric-chelate reductase activity|metal ion binding			lung(2)|ovary(1)|prostate(1)	4				READ - Rectum adenocarcinoma(1115;0.0689)		ATGCGCTATACTTGCCCCTGC	0.602													4	9					0.150653	0.152522	1	1	0	A	61511949	C	A	61511949	3	1	81	1	0	0	0	0	1	0	0	0	4142	564	20	4	189	4	CYB561	17	61511949	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	12806	61511949	19683261	12590	16206											
CYB561	1534	broad.mit.edu	37	17	61513147	61513147	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:61513147C>T	ENST00000584031.1	-	4	653	c.354G>A	c.(352-354)tgG>tgA	p.W118*	CYB561_ENST00000392976.1_Missense_Mutation_p.V103M|CYB561_ENST00000582297.1_Missense_Mutation_p.V103M|CYB561_ENST00000582997.1_Missense_Mutation_p.V110M|CYB561_ENST00000581573.1_Missense_Mutation_p.V103M|CYB561_ENST00000542042.1_Missense_Mutation_p.V170M|CYB561_ENST00000392975.2_Missense_Mutation_p.V103M|CYB561_ENST00000360793.3_Missense_Mutation_p.V103M|CYB561_ENST00000448884.2_Missense_Mutation_p.V103M|CYB561_ENST00000582034.1_Missense_Mutation_p.V74M|CYB561_ENST00000581163.1_5'UTR			P49447	CY561_HUMAN	cytochrome b561	0	Cytochrome b561.				electron transport chain|transport	integral to plasma membrane	cytochrome-b5 reductase activity|ferric-chelate reductase activity|metal ion binding			lung(2)|ovary(1)|prostate(1)	4				READ - Rectum adenocarcinoma(1115;0.0689)		AACACCGCCACCAAGCCTGGG	0.557													11	14					0	0	1	0	0	T	61513147	C	T	61513147	4	4	81	1	0	0	0	0	0	1	0	0	4142	507	18	2	460	2	CYB561	17	61513147	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1198	61513147	19682063	12591	16207											
ACE	1636	broad.mit.edu	37	17	61570881	61570881	+	Silent	SNP	C	C	T	rs146046369		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:61570881C>T	ENST00000577647.1	+	9	1320	c.1275C>T	c.(1273-1275)taC>taT	p.Y425Y	ACE_ENST00000413513.3_Silent_p.Y425Y|ACE_ENST00000428043.1_Silent_p.Y999Y|ACE_ENST00000290866.4_Silent_p.Y999Y|ACE_ENST00000290863.6_Silent_p.Y425Y|ACE_ENST00000490216.2_Silent_p.Y425Y|ACE_ENST00000421982.2_Silent_p.Y245Y			P12821	ACE_HUMAN	angiotensin I converting enzyme	999	Peptidase M2 1.				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	TCATGCAGTACAAAGACTTAC	0.572													5	68					0	0	1	0	0	T	61570881	C	T	61570881	2	4	81	1	0	0	0	0	0	0	0	1	136	489	17	2		2	ACE	17	61570881	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	57734	61570881	19624329	12592	16208											
KCNH6	81033	broad.mit.edu	37	17	61601540	61601540	+	Silent	SNP	C	C	T	rs140752880		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:61601540C>T	ENST00000583023.1	+	2	128	c.117C>T	c.(115-117)tgC>tgT	p.C39C	KCNH6_ENST00000456941.2_Silent_p.C39C|KCNH6_ENST00000580652.1_Silent_p.C39C|KCNH6_ENST00000581784.1_Silent_p.C39C|KCNH6_ENST00000314672.5_Silent_p.C39C	NM_030779.2	NP_110406.1	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 6	39					regulation of transcription, DNA-dependent|signal transduction					breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Ibutilide(DB00308)	TGGAGAACTGCGCCATCATTT	0.597													8	179					0	0	1	0	0	T	61601540	C	T	61601540	2	4	81	1	0	0	0	0	0	0	0	1	8080	776	27	1		1	KCNH6	17	61601540	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	30659	61601540	19593670	12593	16209											
KCNH6	81033	broad.mit.edu	37	17	61611329	61611329	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:61611329G>T	ENST00000583023.1	+	5	769	c.758G>T	c.(757-759)aGc>aTc	p.S253I	KCNH6_ENST00000581784.1_Missense_Mutation_p.S253I|KCNH6_ENST00000314672.5_Missense_Mutation_p.S253I|KCNH6_ENST00000456941.2_Missense_Mutation_p.S253I|KCNH6_ENST00000580652.1_Missense_Mutation_p.S253I	NM_030779.2	NP_110406.1	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 6	253					regulation of transcription, DNA-dependent|signal transduction					breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Ibutilide(DB00308)	CTGCACTACAGCCCCTTCAAG	0.662													12	92					1.08611e-07	1.27405e-07	1	1	0	T	61611329	G	T	61611329	3	4	81	1	0	0	0	0	1	0	0	0	8080	971	34	4	776	4	KCNH6	17	61611329	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	9789	61611329	19583881	12594	16210											
KCNH6	81033	broad.mit.edu	37	17	61623025	61623025	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:61623025C>A	ENST00000583023.1	+	14	2758	c.2747C>A	c.(2746-2748)cCc>cAc	p.P916H	KCNH6_ENST00000581784.1_Missense_Mutation_p.P827H|KCNH6_ENST00000314672.5_Missense_Mutation_p.P880H|KCNH6_ENST00000456941.2_Missense_Mutation_p.P827H	NM_030779.2	NP_110406.1	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 6	916					regulation of transcription, DNA-dependent|signal transduction					breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Ibutilide(DB00308)	AACTCCTCCCCCAGGATGCCT	0.597													6	51					5.9392e-07	6.87481e-07	1	1	0	A	61623025	C	A	61623025	3	1	81	1	0	0	0	0	1	0	0	0	8080	623	22	5	2801	5	KCNH6	17	61623025	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	11696	61623025	19572185	12595	16211											
DCAF7	10238	broad.mit.edu	37	17	61662612	61662612	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:61662612G>A	ENST00000310827.4	+	7	995	c.778G>A	c.(778-780)Gcc>Acc	p.A260T	DCAF7_ENST00000577702.1_3'UTR|DCAF7_ENST00000415273.2_Missense_Mutation_p.A60T|DCAF7_ENST00000431926.1_Intron	NM_005828.3	NP_005819.3	P61962	DCAF7_HUMAN	DDB1 and CUL4 associated factor 7	260					multicellular organismal development	CUL4 RING ubiquitin ligase complex|cytoplasm|nucleus	protein binding			endometrium(6)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)	18						CACACCTGTCGCCAGGTTAAA	0.473													29	52					0	0	1	0	0	A	61662612	G	A	61662612	3	1	81	1	0	0	0	0	1	0	0	0	4299	1087	38	1	801	1	DCAF7	17	61662612	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	39587	61662612	19532598	12596	16212											
MAP3K3	4215	broad.mit.edu	37	17	61768517	61768517	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:61768517G>A	ENST00000361357.3	+	14	1679	c.1361G>A	c.(1360-1362)cGc>cAc	p.R454H	MAP3K3_ENST00000579585.1_Missense_Mutation_p.R454H|MAP3K3_ENST00000584573.1_Missense_Mutation_p.R450H|MAP3K3_ENST00000577395.1_Missense_Mutation_p.R419H|MAP3K3_ENST00000361733.3_Missense_Mutation_p.R423H	NM_203351.1	NP_976226.1	Q99759	M3K3_HUMAN	mitogen-activated protein kinase kinase kinase 3	423	Protein kinase.				MAPKKK cascade|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autophosphorylation	cytosol	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding	p.R423H(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	28						CAGCATGAGCGCATCGTGCAG	0.577													24	27					0	0	1	0	0	A	61768517	G	A	61768517	3	1	81	1	0	0	0	0	1	0	0	0	9301	1087	38	1	1415	1	MAP3K3	17	61768517	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	105905	61768517	19426693	12597	16213											
MAP3K3	4215	broad.mit.edu	37	17	61770979	61770979	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:61770979G>A	ENST00000361357.3	+	17	2134	c.1816G>A	c.(1816-1818)Gcc>Acc	p.A606T	MAP3K3_ENST00000579585.1_Missense_Mutation_p.A606T|MAP3K3_ENST00000584573.1_Missense_Mutation_p.A602T|MAP3K3_ENST00000577395.1_Missense_Mutation_p.A571T|MAP3K3_ENST00000361733.3_Missense_Mutation_p.A575T	NM_203351.1	NP_976226.1	Q99759	M3K3_HUMAN	mitogen-activated protein kinase kinase kinase 3	575	Protein kinase.				MAPKKK cascade|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autophosphorylation	cytosol	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding	p.A575T(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	28						AGCTATGGCCGCCATCTTCAA	0.587													27	49					0	0	1	0	0	A	61770979	G	A	61770979	3	1	81	1	0	0	0	0	1	0	0	0	9301	1087	38	1	1882	1	MAP3K3	17	61770979	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2462	61770979	19424231	12598	16214											
LIMD2	80774	broad.mit.edu	37	17	61776415	61776415	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:61776415G>A	ENST00000259006.3	-	3	215	c.57C>T	c.(55-57)ggC>ggT	p.G19G	LIMD2_ENST00000578061.1_Silent_p.G19G|LIMD2_ENST00000582055.1_5'UTR|LIMD2_ENST00000583211.1_5'UTR|LIMD2_ENST00000578993.1_Silent_p.G19G|LIMD2_ENST00000578402.1_Silent_p.G19G	NM_030576.3	NP_085053.1	Q9BT23	LIMD2_HUMAN	LIM domain containing 2	19							zinc ion binding			kidney(1)|lung(2)	3						TGCTGCTGCCGCCGCCTTTGG	0.736													10	8					0	0	1	0	0	A	61776415	G	A	61776415	2	1	81	1	0	0	0	0	0	0	0	1	8839	1074	38	1		1	LIMD2	17	61776415	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	5436	61776415	19418795	12599	16215											
CCDC47	57003	broad.mit.edu	37	17	61833660	61833660	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:61833660C>T	ENST00000225726.5	-	8	1270	c.888G>A	c.(886-888)ccG>ccA	p.P296P	CCDC47_ENST00000582252.1_Silent_p.P296P|CCDC47_ENST00000403162.3_Silent_p.P296P	NM_020198.2	NP_064583.2	Q96A33	CCD47_HUMAN	coiled-coil domain containing 47	296						integral to membrane	protein binding			endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	18						CCAAAGAGTCCGGCAGTCCAT	0.423													4	60					0	0	1	0	0	T	61833660	C	T	61833660	2	4	81	1	0	0	0	0	0	0	0	1	2838	639	23	1		1	CCDC47	17	61833660	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	57245	61833660	19361550	12600	16216											
DDX42	11325	broad.mit.edu	37	17	61886959	61886959	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:61886959C>A	ENST00000578681.1	+	12	1793	c.1192C>A	c.(1192-1194)Ctt>Att	p.L398I	DDX42_ENST00000457800.2_Missense_Mutation_p.L398I|DDX42_ENST00000389924.2_Missense_Mutation_p.L398I|DDX42_ENST00000583590.1_Missense_Mutation_p.L398I|DDX42_ENST00000359353.5_Missense_Mutation_p.L279I	NM_007372.2	NP_031398.2	Q86XP3	DDX42_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 42	398	Helicase ATP-binding.				protein localization|regulation of anti-apoptosis	Cajal body|cytoplasm|nuclear speck	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)	46						AGCTACCAATCTTCAAAGAGT	0.378													7	90					0.00307968	0.00324365	1	1	0	A	61886959	C	A	61886959	3	1	81	1	0	0	0	0	1	0	0	0	4385	913	32	4	1230	4	DDX42	17	61886959	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	53299	61886959	19308251	12601	16217											
DDX42	11325	broad.mit.edu	37	17	61895444	61895444	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:61895444G>A	ENST00000578681.1	+	19	3104	c.2503G>A	c.(2503-2505)Gga>Aga	p.G835R	DDX42_ENST00000457800.2_Missense_Mutation_p.G835R|DDX42_ENST00000389924.2_Missense_Mutation_p.G835R|DDX42_ENST00000583590.1_Missense_Mutation_p.G835R|DDX42_ENST00000582985.1_Intron|DDX42_ENST00000359353.5_Missense_Mutation_p.G716R	NM_007372.2	NP_031398.2	Q86XP3	DDX42_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 42	835	Gly-rich.|His-rich.				protein localization|regulation of anti-apoptosis	Cajal body|cytoplasm|nuclear speck	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)	46						TCCACGTCACGGAGATGGTGG	0.582													21	28					0	0	1	0	0	A	61895444	G	A	61895444	3	1	81	1	0	0	0	0	1	0	0	0	4385	1117	39	1	2569	1	DDX42	17	61895444	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	8485	61895444	19299766	12602	16218											
DDX42	11325	broad.mit.edu	37	17	61895514	61895514	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:61895514G>A	ENST00000578681.1	+	19	3174	c.2573G>A	c.(2572-2574)cGg>cAg	p.R858Q	DDX42_ENST00000457800.2_Missense_Mutation_p.R858Q|DDX42_ENST00000389924.2_Missense_Mutation_p.R858Q|DDX42_ENST00000583590.1_Missense_Mutation_p.R858Q|DDX42_ENST00000582985.1_Intron|DDX42_ENST00000359353.5_Missense_Mutation_p.R739Q	NM_007372.2	NP_031398.2	Q86XP3	DDX42_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 42	858	Gly-rich.|His-rich.				protein localization|regulation of anti-apoptosis	Cajal body|cytoplasm|nuclear speck	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)	46						GATGGCCATCGGCACGGGGAG	0.567													32	52					0	0	1	0	0	A	61895514	G	A	61895514	3	1	81	1	0	0	0	0	1	0	0	0	4385	1116	39	1	2639	1	DDX42	17	61895514	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	70	61895514	19299696	12603	16219											
FTSJ3	117246	broad.mit.edu	37	17	61902614	61902614	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:61902614C>T	ENST00000427159.2	-	7	1228	c.583G>A	c.(583-585)Gta>Ata	p.V195I		NM_017647.3	NP_060117.3	Q8IY81	RRMJ3_HUMAN	FtsJ homolog 3 (E. coli)	195					RNA methylation|rRNA processing	nucleolus	methyltransferase activity|nucleic acid binding			breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						TGGCAGACTACAAAGATCTCT	0.498													21	31					0	0	1	0	0	T	61902614	C	T	61902614	3	4	81	1	0	0	0	0	1	0	0	0	6124	478	17	2	2020	2	FTSJ3	17	61902614	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	7100	61902614	19292596	12604	16220											
CSHL1	1444	broad.mit.edu	37	17	61987304	61987304	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:61987304C>T	ENST00000450719.3	-	3	644	c.407G>A	c.(406-408)aGc>aAc	p.S136N	CSHL1_ENST00000561003.1_Missense_Mutation_p.S147N|CSHL1_ENST00000558099.1_5'UTR|CSHL1_ENST00000438387.2_Intron|CSHL1_ENST00000346606.6_Intron|CSHL1_ENST00000392824.4_3'UTR|CSHL1_ENST00000259003.10_Intron|CSHL1_ENST00000309894.5_Intron			Q14406	CSHL_HUMAN	chorionic somatomammotropin hormone-like 1	0						extracellular region	hormone activity|metal ion binding			endometrium(3)|lung(6)	9						AGACCAAGCGCTTGGGCACTG	0.527													30	49					0	0	1	0	0	T	61987304	C	T	61987304	3	4	81	1	0	0	0	0	1	0	0	0	3967	812	28	2		2	CSHL1	17	61987304	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	84690	61987304	19207906	12605	16221											
SCN4A	6329	broad.mit.edu	37	17	62018424	62018424	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:62018424G>A	ENST00000578147.1	-	24	5294	c.5218C>T	c.(5218-5220)Cgg>Tgg	p.R1740W	SCN4A_ENST00000435607.1_Missense_Mutation_p.R1740W			P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	1740	IQ.				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	AGCAGGTGCCGGCGGTAGGCC	0.642													34	47					0	0	1	0	0	A	62018424	G	A	62018424	3	1	81	1	0	0	0	0	1	0	0	0	13974	1115	39	1	296	1	SCN4A	17	62018424	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	31120	62018424	19176786	12606	16222											
SCN4A	6329	broad.mit.edu	37	17	62020442	62020442	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:62020442G>A	ENST00000578147.1	-	23	4108	c.4032C>T	c.(4030-4032)ggC>ggT	p.G1344G	SCN4A_ENST00000435607.1_Silent_p.G1344G			P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	1344					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	CATACACCATGCCCTGGATCT	0.567													52	74					0	0	1	0	0	A	62020442	G	A	62020442	2	1	81	1	0	0	0	0	0	0	0	1	13974	1306	46	2		2	SCN4A	17	62020442	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2018	62020442	19174768	12607	16223											
SCN4A	6329	broad.mit.edu	37	17	62036796	62036796	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:62036796G>T	ENST00000578147.1	-	12	1924	c.1848C>A	c.(1846-1848)gtC>gtA	p.V616V	SCN4A_ENST00000435607.1_Silent_p.V616V			P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	616					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	TGCCTGTGAAGACCTAGGGGG	0.597													8	10					0.0477658	0.0487066	1	1	0	T	62036796	G	T	62036796	2	4	81	1	0	0	0	0	0	0	0	1	13974	929	33	4		4	SCN4A	17	62036796	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	16354	62036796	19158414	12608	16224											
SCN4A	6329	broad.mit.edu	37	17	62038714	62038714	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:62038714C>T	ENST00000578147.1	-	11	1760	c.1684G>A	c.(1684-1686)Gcc>Acc	p.A562T	SCN4A_ENST00000435607.1_Missense_Mutation_p.A562T			P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	562					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	AGCCACGGGGCGCAGCAGTTC	0.562													73	107					0	0	1	0	0	T	62038714	C	T	62038714	3	4	81	1	0	0	0	0	1	0	0	0	13974	768	27	1	3882	1	SCN4A	17	62038714	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1918	62038714	19156496	12609	16225											
ICAM2	3384	broad.mit.edu	37	17	62082676	62082676	+	Missense_Mutation	SNP	G	G	A	rs150482335	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:62082676G>A	ENST00000412356.1	-	4	473	c.119C>T	c.(118-120)cCc>cTc	p.P40L	ICAM2_ENST00000418105.1_Missense_Mutation_p.P40L|ICAM2_ENST00000579788.1_Missense_Mutation_p.P40L|ICAM2_ENST00000579687.1_Missense_Mutation_p.P40L|ICAM2_ENST00000449662.2_Missense_Mutation_p.P40L|ICAM2_ENST00000581417.1_5'UTR|ICAM2_ENST00000578892.1_Intron|ICAM2_ENST00000578379.1_5'UTR	NM_001099786.1	NP_001093256.1	P13598	ICAM2_HUMAN	intercellular adhesion molecule 2	40					cell-cell adhesion|regulation of immune response	integral to plasma membrane	integrin binding			large_intestine(1)|lung(2)|ovary(1)|skin(2)	6						GGACCCTTTGGGCTCAACCGC	0.557													16	19					0	0	1	0	0	A	62082676	G	A	62082676	3	1	81	1	0	0	0	0	1	0	0	0	7524	1232	43	2	720	2	ICAM2	17	62082676	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	43962	62082676	19112534	12610	16226											
ERN1	2081	broad.mit.edu	37	17	62122804	62122804	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:62122804G>A	ENST00000433197.3	-	20	2663	c.2568C>T	c.(2566-2568)ggC>ggT	p.G856G		NM_001433.3	NP_001424.3	O75460	ERN1_HUMAN	endoplasmic reticulum to nucleus signaling 1		KEN.				activation of signaling protein activity involved in unfolded protein response|apoptosis|cell cycle arrest|induction of apoptosis|mRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to endoplasmic reticulum membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(4)|kidney(1)|lung(2)|ovary(1)|stomach(1)	9						TCACGATCGGGCCATCCAGGG	0.562													9	31					0	0	1	0	0	A	62122804	G	A	62122804	2	1	81	1	0	0	0	0	0	0	0	1	5265	1190	42	2		2	ERN1	17	62122804	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	40128	62122804	19072406	12611	16227											
ERN1	2081	broad.mit.edu	37	17	62125289	62125289	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:62125289G>A	ENST00000433197.3	-	19	2553	c.2458C>T	c.(2458-2460)Cgc>Tgc	p.R820C		NM_001433.3	NP_001424.3	O75460	ERN1_HUMAN	endoplasmic reticulum to nucleus signaling 1		Protein kinase.				activation of signaling protein activity involved in unfolded protein response|apoptosis|cell cycle arrest|induction of apoptosis|mRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to endoplasmic reticulum membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(4)|kidney(1)|lung(2)|ovary(1)|stomach(1)	9						GCTGAGGGGCGTTTCTGAGGA	0.468													17	28					0	0	1	0	0	A	62125289	G	A	62125289	3	1	81	1	0	0	0	0	1	0	0	0	5265	1145	40	1	491	1	ERN1	17	62125289	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2485	62125289	19069921	12612	16228											
ERN1	2081	broad.mit.edu	37	17	62144287	62144287	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:62144287A>T	ENST00000433197.3	-	8	681	c.586T>A	c.(586-588)Tcc>Acc	p.S196T		NM_001433.3	NP_001424.3	O75460	ERN1_HUMAN	endoplasmic reticulum to nucleus signaling 1						activation of signaling protein activity involved in unfolded protein response|apoptosis|cell cycle arrest|induction of apoptosis|mRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to endoplasmic reticulum membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(4)|kidney(1)|lung(2)|ovary(1)|stomach(1)	9						ACAAAGTGGGACATCTCTGTA	0.512													6	15					0	0	1	0	0	T	62144287	A	T	62144287	3	4	81	1	0	0	0	0	1	0	0	0	5265	275	10	5	2407	5	ERN1	17	62144287	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	18998	62144287	19050923	12613	16229											
TEX2	55852	broad.mit.edu	37	17	62270986	62270986	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:62270986T>C	ENST00000258991.3	-	4	2193	c.2109A>G	c.(2107-2109)agA>agG	p.R703R	TEX2_ENST00000584379.1_Silent_p.R703R|TEX2_ENST00000583097.1_Silent_p.R703R			Q8IWB9	TEX2_HUMAN	testis expressed 2	703					signal transduction|sphingolipid metabolic process	integral to membrane				breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)		CCAGAATAAATCTCCTAAACC	0.453													9	173					0	0	1	0	0	C	62270986	T	C	62270986	2	2	81	1	0	0	0	0	0	0	0	1	15840	1432	50	3		3	TEX2	17	62270986	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	126699	62270986	18924224	12614	16230											
DDX5	1655	broad.mit.edu	37	17	62496859	62496859	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:62496859C>T	ENST00000225792.5	-	12	1650	c.1249G>A	c.(1249-1251)Gac>Aac	p.D417N	DDX5_ENST00000450599.2_Missense_Mutation_p.D338N|DDX5_ENST00000578804.1_Missense_Mutation_p.D417N|DDX5_ENST00000580026.1_5'UTR	NM_004396.3	NP_004387.1	P17844	DDX5_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 5	417	Helicase C-terminal.				cell growth|regulation of alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|mRNA binding|protein binding|RNA helicase activity|transcription cofactor activity			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	19	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;8.6e-12)			TTAGGGTAGTCATAATTGATG	0.408			T	ETV4	prostate								5	66					0	0	1	0	0	T	62496859	C	T	62496859	3	4	81	1	0	0	0	0	1	0	0	0	4390	826	29	2	603	2	DDX5	17	62496859	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	225873	62496859	18698351	12615	16231											
SMURF2	64750	broad.mit.edu	37	17	62557707	62557707	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:62557707C>A	ENST00000262435.9	-	12	1414	c.1227G>T	c.(1225-1227)caG>caT	p.Q409H	SMURF2_ENST00000578200.1_5'UTR	NM_022739.3	NP_073576.1	Q9HAU4	SMUF2_HUMAN	SMAD specific E3 ubiquitin protein ligase 2	409					BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of transforming growth factor beta receptor signaling pathway|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent SMAD protein catabolic process	cytosol|membrane raft|nucleus|plasma membrane|ubiquitin ligase complex	identical protein binding|SMAD binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(4)	22	Breast(5;1.32e-14)		BRCA - Breast invasive adenocarcinoma(8;9.88e-12)			TTTTCATGACCTGTCGATATG	0.373													16	29					0.0242445	0.0248788	1	1	0	A	62557707	C	A	62557707	3	1	81	1	0	0	0	0	1	0	0	0	14874	680	24	4	1051	4	SMURF2	17	62557707	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	60848	62557707	18637503	12616	16232											
AXIN2	8313	broad.mit.edu	37	17	63532578	63532578	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:63532578G>A	ENST00000307078.5	-	8	2314	c.2001C>T	c.(1999-2001)agC>agT	p.S667S	AXIN2_ENST00000375702.5_Silent_p.S602S	NM_004655.3	NP_004646.3	Q9Y2T1	AXIN2_HUMAN	axin 2	667					cellular protein localization|cellular response to organic cyclic compound|dorsal/ventral axis specification|intramembranous ossification|maintenance of DNA repeat elements|mRNA stabilization|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of cell proliferation|negative regulation of osteoblast differentiation|odontogenesis|positive regulation of cell death|positive regulation of epithelial to mesenchymal transition|positive regulation of protein phosphorylation|regulation of centromeric sister chromatid cohesion|regulation of mismatch repair|Wnt receptor signaling pathway involved in somitogenesis	Axin-APC-beta-catenin-GSK3B complex|cell cortex|centrosome|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|nucleus|plasma membrane|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	34						GGGGGTGCCCGCTGTTGCCCC	0.667									Oligodontia, Ectodermal Dysplasia and Colorectal Polyp syndrome				14	18					0	0	1	0	0	A	63532578	G	A	63532578	2	1	81	1	0	0	0	0	0	0	0	1	1235	1078	38	1		1	AXIN2	17	63532578	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	974871	63532578	17662632	12617	16233											
PRKCA	5578	broad.mit.edu	37	17	64683231	64683231	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:64683231C>T	ENST00000413366.3	+	6	558	c.532C>T	c.(532-534)Cga>Tga	p.R178*		NM_002737.2	NP_002728	P17252	KPCA_HUMAN	protein kinase C, alpha	178	C2.				activation of phospholipase C activity|energy reserve metabolic process|induction of apoptosis by extracellular signals|intracellular signal transduction|mRNA metabolic process|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of blood vessel endothelial cell migration|regulation of insulin secretion|response to interleukin-1|synaptic transmission	cytosol|endoplasmic reticulum|membrane fraction|nucleoplasm|plasma membrane	ATP binding|enzyme binding|histone kinase activity (H3-T6 specific)|protein kinase C activity|zinc ion binding	p.R178*(1)		breast(3)|central_nervous_system(4)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38			BRCA - Breast invasive adenocarcinoma(6;4.68e-09)		Phosphatidylserine(DB00144)|Vitamin E(DB00163)	CTTCACAGTACGAGATGCAAA	0.388													45	73					0	0	1	0	0	T	64683231	C	T	64683231	4	4	81	1	0	0	0	0	0	1	0	0	12559	528	19	1	554	1	PRKCA	17	64683231	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1150653	64683231	16511979	12618	16234											
PRKCA	5578	broad.mit.edu	37	17	64684448	64684448	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:64684448C>T	ENST00000413366.3	+	7	741	c.715C>T	c.(715-717)Cga>Tga	p.R239*		NM_002737.2	NP_002728	P17252	KPCA_HUMAN	protein kinase C, alpha	239	C2.				activation of phospholipase C activity|energy reserve metabolic process|induction of apoptosis by extracellular signals|intracellular signal transduction|mRNA metabolic process|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of blood vessel endothelial cell migration|regulation of insulin secretion|response to interleukin-1|synaptic transmission	cytosol|endoplasmic reticulum|membrane fraction|nucleoplasm|plasma membrane	ATP binding|enzyme binding|histone kinase activity (H3-T6 specific)|protein kinase C activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38			BRCA - Breast invasive adenocarcinoma(6;4.68e-09)		Phosphatidylserine(DB00144)|Vitamin E(DB00163)	CAAAGACCGACGACTGTCTGT	0.448													28	45					0	0	1	0	0	T	64684448	C	T	64684448	4	4	81	1	0	0	0	0	0	1	0	0	12559	528	19	1	741	1	PRKCA	17	64684448	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1217	64684448	16510762	12619	16235											
PRKCA	5578	broad.mit.edu	37	17	64684476	64684476	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:64684476A>G	ENST00000413366.3	+	7	769	c.743A>G	c.(742-744)gAt>gGt	p.D248G		NM_002737.2	NP_002728	P17252	KPCA_HUMAN	protein kinase C, alpha	248	C2.				activation of phospholipase C activity|energy reserve metabolic process|induction of apoptosis by extracellular signals|intracellular signal transduction|mRNA metabolic process|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of blood vessel endothelial cell migration|regulation of insulin secretion|response to interleukin-1|synaptic transmission	cytosol|endoplasmic reticulum|membrane fraction|nucleoplasm|plasma membrane	ATP binding|enzyme binding|histone kinase activity (H3-T6 specific)|protein kinase C activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38			BRCA - Breast invasive adenocarcinoma(6;4.68e-09)		Phosphatidylserine(DB00144)|Vitamin E(DB00163)	TGGGACTGGGATCGAACAACA	0.463													31	40					0	0	1	0	0	G	64684476	A	G	64684476	3	3	81	1	0	0	0	0	1	0	0	0	12559	333	12	3	769	3	PRKCA	17	64684476	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	28	64684476	16510734	12620	16236											
CACNG1	786	broad.mit.edu	37	17	65050168	65050168	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:65050168G>A	ENST00000226021.3	+	2	357	c.286G>A	c.(286-288)Gaa>Aaa	p.E96K		NM_000727.3	NP_000718.1	Q06432	CCG1_HUMAN	calcium channel, voltage-dependent, gamma subunit 1	96					muscle contraction	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(1)|large_intestine(2)|lung(2)|prostate(1)|skin(2)	8	all_cancers(12;1.04e-10)|Breast(2;1.45e-16)|all_epithelial(3;4.81e-12)				Amlodipine(DB00381)|Diltiazem(DB00343)|Ibutilide(DB00308)|Lercanidipine(DB00528)|Magnesium Sulfate(DB00653)|Nimodipine(DB00393)|Nitrendipine(DB01054)|Verapamil(DB00661)	GGAGATCTTCGAATTCACCAC	0.542													32	48					0	0	1	0	0	A	65050168	G	A	65050168	3	1	81	1	0	0	0	0	1	0	0	0	2574	1059	37	1	292	1	CACNG1	17	65050168	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	365692	65050168	16145042	12621	16237											
CACNG1	786	broad.mit.edu	37	17	65052275	65052275	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:65052275G>A	ENST00000226021.3	+	4	628	c.557G>A	c.(556-558)tGt>tAt	p.C186Y		NM_000727.3	NP_000718.1	Q06432	CCG1_HUMAN	calcium channel, voltage-dependent, gamma subunit 1	186					muscle contraction	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(1)|large_intestine(2)|lung(2)|prostate(1)|skin(2)	8	all_cancers(12;1.04e-10)|Breast(2;1.45e-16)|all_epithelial(3;4.81e-12)				Amlodipine(DB00381)|Diltiazem(DB00343)|Ibutilide(DB00308)|Lercanidipine(DB00528)|Magnesium Sulfate(DB00653)|Nimodipine(DB00393)|Nitrendipine(DB01054)|Verapamil(DB00661)	GCCTGCGCCTGTGCCGCCTTC	0.602													18	41					0	0	1	0	0	A	65052275	G	A	65052275	3	1	81	1	0	0	0	0	1	0	0	0	2574	1377	48	2	571	2	CACNG1	17	65052275	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2107	65052275	16142935	12622	16238											
HELZ	9931	broad.mit.edu	37	17	65082989	65082989	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:65082989G>A	ENST00000358691.5	-	32	5616	c.5450C>T	c.(5449-5451)cCg>cTg	p.P1817L	HELZ_ENST00000580168.1_Missense_Mutation_p.P1818L	NM_014877.3	NP_055692			helicase with zinc finger											NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					TCCATTGCACGGAATGTTCTG	0.473													38	69					0	0	1	0	0	A	65082989	G	A	65082989	3	1	81	1	0	0	0	0	1	0	0	0	7090	1116	39	1	386	1	HELZ	17	65082989	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	30714	65082989	16112221	12623	16239											
HELZ	9931	broad.mit.edu	37	17	65103554	65103554	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:65103554A>G	ENST00000358691.5	-	31	5138	c.4972T>C	c.(4972-4974)Ttc>Ctc	p.F1658L	HELZ_ENST00000580168.1_Missense_Mutation_p.F1659L	NM_014877.3	NP_055692			helicase with zinc finger											NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					GGTGAGTTGAATATCTGGGGT	0.478													5	69					0	0	1	0	0	G	65103554	A	G	65103554	3	3	81	1	0	0	0	0	1	0	0	0	7090	101	4	3	868	3	HELZ	17	65103554	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	20565	65103554	16091656	12624	16240											
HELZ	9931	broad.mit.edu	37	17	65212053	65212053	+	Splice_Site	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:65212053T>C	ENST00000358691.5	-	5	377		c.e5-2		HELZ_ENST00000580168.1_Splice_Site|HELZ_ENST00000580662.1_Splice_Site	NM_014877.3	NP_055692			helicase with zinc finger											NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					ATAATTTTTCTGCAAAACAAA	0.279													4	12					0	0	1	0	0	C	65212053	T	C	65212053	5	2	81	1	0	0	0	0	0	0	1	0	7090	1594	55	3	5735	3	HELZ	17	65212053	Splice_Site	SNP	T	TCGA-DU-6392-01A-11D-1705-08	108499	65212053	15983157	12625	16241											
PITPNC1	26207	broad.mit.edu	37	17	65628259	65628259	+	Splice_Site	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:65628259A>C	ENST00000580974.1	+	6	1063	c.367A>C	c.(367-369)Att>Ctt	p.I123L	PITPNC1_ENST00000335257.6_Splice_Site_p.I123L|PITPNC1_ENST00000581322.1_Splice_Site_p.I123L|PITPNC1_ENST00000299954.9_Splice_Site_p.I123L	NM_012417.3|NM_181671.2	NP_036549.2|NP_858057.1	Q9UKF7	PITC1_HUMAN	phosphatidylinositol transfer protein, cytoplasmic 1	123					signal transduction	cytoplasm	lipid binding|phosphatidylinositol transporter activity|protein binding			breast(1)|kidney(2)|large_intestine(3)|liver(2)|lung(4)|prostate(2)|skin(3)	17	all_cancers(12;3.03e-10)		BRCA - Breast invasive adenocarcinoma(8;2.08e-08)|Colorectal(3;0.198)			GCTTTTTCAGATTTTCGACAA	0.443													3	35					0	0	1	0	0	C	65628259	A	C	65628259	5	2	81	1	0	0	0	0	0	0	1	0	11997	347	12	4	389	4	PITPNC1	17	65628259	Splice_Site	SNP	A	TCGA-DU-6392-01A-11D-1705-08	416206	65628259	15566951	12626	16242											
NOL11	25926	broad.mit.edu	37	17	65732040	65732040	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:65732040T>A	ENST00000253247.4	+	9	1070	c.955T>A	c.(955-957)Ttt>Att	p.F319I	NOL11_ENST00000535137.1_Missense_Mutation_p.F137I	NM_015462.3	NP_056277.2	Q9H8H0	NOL11_HUMAN	nucleolar protein 11	319						nucleolus				haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	11	all_cancers(12;1.54e-10)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0518)|COAD - Colon adenocarcinoma(4;0.0977)|LUSC - Lung squamous cell carcinoma(166;0.24)			AGAACATTTGTTTATGCTACA	0.348													24	29					0	0	1	0	0	A	65732040	T	A	65732040	3	1	81	1	0	0	0	0	1	0	0	0	10568	1725	60	5	989	5	NOL11	17	65732040	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	103781	65732040	15463170	12627	16243											
NOL11	25926	broad.mit.edu	37	17	65733763	65733763	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:65733763G>A	ENST00000253247.4	+	12	1473	c.1358G>A	c.(1357-1359)cGg>cAg	p.R453Q	NOL11_ENST00000535137.1_Missense_Mutation_p.R271Q	NM_015462.3	NP_056277.2	Q9H8H0	NOL11_HUMAN	nucleolar protein 11	453						nucleolus				haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	11	all_cancers(12;1.54e-10)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0518)|COAD - Colon adenocarcinoma(4;0.0977)|LUSC - Lung squamous cell carcinoma(166;0.24)			TTTTATCCCCGGAACTGTCTG	0.433													41	88					0	0	1	0	0	A	65733763	G	A	65733763	3	1	81	1	0	0	0	0	1	0	0	0	10568	1116	39	1	1404	1	NOL11	17	65733763	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1723	65733763	15461447	12628	16244											
BPTF	2186	broad.mit.edu	37	17	65850685	65850685	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:65850685G>A	ENST00000321892.4	+	2	1304	c.1243G>A	c.(1243-1245)Gaa>Aaa	p.E415K	BPTF_ENST00000335221.5_Missense_Mutation_p.E415K|BPTF_ENST00000306378.6_Missense_Mutation_p.E415K|BPTF_ENST00000424123.3_Missense_Mutation_p.E276K			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	415					brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			ATACCATTTGGAATGTGTGAA	0.488													49	93					0	0	1	0	0	A	65850685	G	A	65850685	3	1	81	1	0	0	0	0	1	0	0	0	1497	1175	41	2	1249	2	BPTF	17	65850685	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	116922	65850685	15344525	12629	16245											
BPTF	2186	broad.mit.edu	37	17	65908009	65908009	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:65908009G>T	ENST00000321892.4	+	13	4448	c.4387G>T	c.(4387-4389)Gtt>Ttt	p.V1463F	BPTF_ENST00000335221.5_Missense_Mutation_p.V1463F|BPTF_ENST00000306378.6_Missense_Mutation_p.V1337F|BPTF_ENST00000424123.3_Missense_Mutation_p.V1324F			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	1463					brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			GTGTGAGTTGGTTTCTGGTGA	0.433													18	11					2.37509e-13	2.99406e-13	1	1	0	T	65908009	G	T	65908009	3	4	81	1	0	0	0	0	1	0	0	0	1497	1261	44	5	4437	5	BPTF	17	65908009	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	57324	65908009	15287201	12630	16246											
BPTF	2186	broad.mit.edu	37	17	65955939	65955939	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:65955939A>G	ENST00000321892.4	+	26	8648	c.8587A>G	c.(8587-8589)Aag>Gag	p.K2863E	BPTF_ENST00000335221.5_Missense_Mutation_p.K2720E|BPTF_ENST00000306378.6_Missense_Mutation_p.K2737E|BPTF_ENST00000424123.3_Missense_Mutation_p.K2581E			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	2863					brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			AAAGGAAACTAAGAAGGACAC	0.388													17	58					0	0	1	0	0	G	65955939	A	G	65955939	3	3	81	1	0	0	0	0	1	0	0	0	1497	363	13	3	8689	3	BPTF	17	65955939	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	47930	65955939	15239271	12631	16247											
BPTF	2186	broad.mit.edu	37	17	65978371	65978371	+	Silent	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:65978371T>A	ENST00000321892.4	+	30	9169	c.9108T>A	c.(9106-9108)tcT>tcA	p.S3036S	BPTF_ENST00000335221.5_Silent_p.S2893S|BPTF_ENST00000306378.6_Silent_p.S2910S|BPTF_ENST00000424123.3_Silent_p.S2754S			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	3036					brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			TCTGTAGGTCTCATAACAACA	0.368													21	20					0	0	1	0	0	A	65978371	T	A	65978371	2	1	81	1	0	0	0	0	0	0	0	1	1497	1538	54	5		5	BPTF	17	65978371	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	22432	65978371	15216839	12632	16248											
KPNA2	3838	broad.mit.edu	37	17	66040087	66040087	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:66040087C>T	ENST00000537025.2	+	8	1684	c.1064C>T	c.(1063-1065)gCt>gTt	p.A355V	KPNA2_ENST00000330459.3_Missense_Mutation_p.A355V			P52292	IMA2_HUMAN	karyopherin alpha 2 (RAG cohort 1, importin alpha 1)	355	NLS binding site (minor) (By similarity).				DNA metabolic process|G2 phase of mitotic cell cycle|interspecies interaction between organisms|M phase specific microtubule process|NLS-bearing substrate import into nucleus|regulation of DNA recombination	cytoplasm|nuclear pore|nucleoplasm	histone deacetylase binding|nuclear localization sequence binding|protein transporter activity			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|kidney(2)|lung(9)|prostate(1)|urinary_tract(2)	22	all_cancers(12;1.18e-09)		BRCA - Breast invasive adenocarcinoma(8;1.03e-07)|LUSC - Lung squamous cell carcinoma(166;0.24)			CAGAAGGAAGCTACGTGGACA	0.493													62	109					0	0	1	0	0	T	66040087	C	T	66040087	3	4	81	1	0	0	0	0	1	0	0	0	8473	797	28	2	1090	2	KPNA2	17	66040087	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	61716	66040087	15155123	12633	16249											
AMZ2	51321	broad.mit.edu	37	17	66247070	66247070	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:66247070G>T	ENST00000359904.3	+	3	1551	c.419G>T	c.(418-420)aGa>aTa	p.R140I	AMZ2_ENST00000577866.1_Missense_Mutation_p.R140I|AMZ2_ENST00000392720.2_Missense_Mutation_p.R140I|AMZ2_ENST00000577985.1_Missense_Mutation_p.R140I|AMZ2_ENST00000359783.4_Intron|AMZ2_ENST00000585050.1_3'UTR|AMZ2_ENST00000580753.1_Missense_Mutation_p.R140I|AMZ2_ENST00000577273.1_Missense_Mutation_p.R140I	NM_016627.4	NP_057711.3	Q86W34	AMZ2_HUMAN	archaelysin family metallopeptidase 2	140							metallopeptidase activity|zinc ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	9	all_cancers(12;1.12e-09)		BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)			TGTTCCTTTAGAGTCAATGAG	0.353													17	38					1.33834e-09	1.61909e-09	1	1	0	T	66247070	G	T	66247070	3	4	81	1	0	0	0	0	1	0	0	0	593	942	33	4	425	4	AMZ2	17	66247070	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	206983	66247070	14948140	12634	16250											
SLC16A6	9120	broad.mit.edu	37	17	66274235	66274235	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:66274235A>G	ENST00000327268.4	-	3	391	c.227T>C	c.(226-228)tTt>tCt	p.F76S	SLC16A6_ENST00000580666.1_Missense_Mutation_p.F76S|ARSG_ENST00000448504.2_Intron	NM_001174166.1	NP_001167637.1	O15403	MOT7_HUMAN	solute carrier family 16, member 6	76						integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity			large_intestine(3)|lung(8)|prostate(1)|skin(1)|urinary_tract(2)	15	all_cancers(12;1.24e-09)		BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)		Pyruvic acid(DB00119)	CTAACCTGAAAATGTTAAGAC	0.373													16	16					0	0	1	0	0	G	66274235	A	G	66274235	3	3	81	1	0	0	0	0	1	0	0	0	14467	14	1	3	1364	3	SLC16A6	17	66274235	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	27165	66274235	14920975	12635	16251											
ABCA8	10351	broad.mit.edu	37	17	66925236	66925236	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:66925236A>C	ENST00000269080.2	-	8	1216	c.1079T>G	c.(1078-1080)aTt>aGt	p.I360S	ABCA8_ENST00000586539.1_Missense_Mutation_p.I360S|ABCA8_ENST00000430352.2_Missense_Mutation_p.I360S	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	360						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					CAAGCTTAAAATCCACTCCAA	0.493													14	19					0	0	1	0	0	C	66925236	A	C	66925236	3	2	81	1	0	0	0	0	1	0	0	0	38	101	4	4	3790	4	ABCA8	17	66925236	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	651001	66925236	14269974	12636	16252											
ABCA8	10351	broad.mit.edu	37	17	66937019	66937019	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:66937019T>C	ENST00000269080.2	-	3	318	c.181A>G	c.(181-183)Acc>Gcc	p.T61A	ABCA8_ENST00000586539.1_Missense_Mutation_p.T61A|ABCA8_ENST00000430352.2_Missense_Mutation_p.T61A	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	61						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					AGGTCCATGGTAAGCAGTGAA	0.363													8	59					0	0	1	0	0	C	66937019	T	C	66937019	3	2	81	1	0	0	0	0	1	0	0	0	38	1638	57	3	4708	3	ABCA8	17	66937019	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	11783	66937019	14258191	12637	16253											
ABCA9	10350	broad.mit.edu	37	17	66979978	66979978	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:66979978G>A	ENST00000340001.4	-	36	4723	c.4512C>T	c.(4510-4512)tcC>tcT	p.S1504S	ABCA9_ENST00000370732.2_3'UTR|ABCA9_ENST00000453985.2_Silent_p.S1466S	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	1504	ABC transporter 2.				transport	integral to membrane	ATP binding|ATPase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					GGTGTTGGATGGAACCAATAC	0.468													35	49					0	0	1	0	0	A	66979978	G	A	66979978	2	1	81	1	0	0	0	0	0	0	0	1	39	1335	47	2		2	ABCA9	17	66979978	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	42959	66979978	14215232	12638	16254											
ABCA9	10350	broad.mit.edu	37	17	66982385	66982385	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:66982385G>A	ENST00000340001.4	-	32	4339	c.4128C>T	c.(4126-4128)aaC>aaT	p.N1376N	ABCA9_ENST00000370732.2_Silent_p.N1376N|ABCA9_ENST00000453985.2_Silent_p.N1338N	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	1376	ABC transporter 2.				transport	integral to membrane	ATP binding|ATPase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					TCACTGTCAGGTTGGGCCACA	0.577													26	42					0	0	1	0	0	A	66982385	G	A	66982385	2	1	81	1	0	0	0	0	0	0	0	1	39	1252	44	2		2	ABCA9	17	66982385	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2407	66982385	14212825	12639	16255											
ABCA9	10350	broad.mit.edu	37	17	67004269	67004269	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:67004269C>T	ENST00000340001.4	-	24	3466	c.3255G>A	c.(3253-3255)atG>atA	p.M1085I	ABCA9_ENST00000370732.2_Missense_Mutation_p.M1085I|ABCA9_ENST00000453985.2_Missense_Mutation_p.M1085I|ABCA9-AS1_ENST00000458677.1_RNA	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	1085					transport	integral to membrane	ATP binding|ATPase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					CCATTATTTGCATTAGCAGGA	0.383													30	70					0	0	1	0	0	T	67004269	C	T	67004269	3	4	81	1	0	0	0	0	1	0	0	0	39	710	25	2	1683	2	ABCA9	17	67004269	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	21884	67004269	14190941	12640	16256											
ABCA9	10350	broad.mit.edu	37	17	67039765	67039765	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:67039765G>A	ENST00000340001.4	-	6	876	c.665C>T	c.(664-666)gCa>gTa	p.A222V	ABCA9_ENST00000370732.2_Missense_Mutation_p.A222V|ABCA9_ENST00000453985.2_Missense_Mutation_p.A222V|ABCA9_ENST00000495634.1_Missense_Mutation_p.A222V	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	222					transport	integral to membrane	ATP binding|ATPase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					AAAATCAGTTGCAACTCCTCC	0.328													25	42					0	0	1	0	0	A	67039765	G	A	67039765	3	1	81	1	0	0	0	0	1	0	0	0	39	1319	46	2	4345	2	ABCA9	17	67039765	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	35496	67039765	14155445	12641	16257											
ABCA6	23460	broad.mit.edu	37	17	67079048	67079048	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:67079048G>A	ENST00000284425.2	-	36	4756	c.4582C>T	c.(4582-4584)Ctg>Ttg	p.L1528L	ABCA6_ENST00000446604.2_5'UTR	NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	1528					transport	integral to membrane	ATP binding|ATPase activity			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					AAAAGCTTCAGAATCTCAGTG	0.448													112	166					0	0	1	0	0	A	67079048	G	A	67079048	2	1	81	1	0	0	0	0	0	0	0	1	36	933	33	2		2	ABCA6	17	67079048	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	39283	67079048	14116162	12642	16258											
ABCA6	23460	broad.mit.edu	37	17	67081189	67081189	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:67081189G>A	ENST00000284425.2	-	32	4338	c.4164C>T	c.(4162-4164)gaC>gaT	p.D1388D	ABCA6_ENST00000446604.2_5'UTR	NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	1388	ABC transporter 2.				transport	integral to membrane	ATP binding|ATPase activity			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					CGAGCCTCGCGTCCGCTTTCC	0.552													11	9					0	0	1	0	0	A	67081189	G	A	67081189	2	1	81	1	0	0	0	0	0	0	0	1	36	1136	40	1		1	ABCA6	17	67081189	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2141	67081189	14114021	12643	16259											
ABCA6	23460	broad.mit.edu	37	17	67099080	67099080	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:67099080G>T	ENST00000284425.2	-	21	2944	c.2770C>A	c.(2770-2772)Ctg>Atg	p.L924M		NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	924					transport	integral to membrane	ATP binding|ATPase activity			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					TGATGCTTCAGTGATTTTATA	0.284													3	20					1	1	1	1	0	T	67099080	G	T	67099080	3	4	81	1	0	0	0	0	1	0	0	0	36	1020	36	4	2159	4	ABCA6	17	67099080	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	17891	67099080	14096130	12644	16260											
ABCA6	23460	broad.mit.edu	37	17	67107013	67107013	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:67107013G>A	ENST00000284425.2	-	17	2375	c.2201C>T	c.(2200-2202)gCt>gTt	p.A734V		NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	734					transport	integral to membrane	ATP binding|ATPase activity			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					TTTTAATTTAGCATCGGGGAT	0.303													12	25					0	0	1	0	0	A	67107013	G	A	67107013	3	1	81	1	0	0	0	0	1	0	0	0	36	971	34	2	2744	2	ABCA6	17	67107013	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	7933	67107013	14088197	12645	16261											
ABCA6	23460	broad.mit.edu	37	17	67124790	67124790	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:67124790G>A	ENST00000284425.2	-	8	1263	c.1089C>T	c.(1087-1089)agC>agT	p.S363S		NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	363					transport	integral to membrane	ATP binding|ATPase activity			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					AGGCAAAAGGGCTACAAATAT	0.373													25	47					0	0	1	0	0	A	67124790	G	A	67124790	2	1	81	1	0	0	0	0	0	0	0	1	36	1194	42	2		2	ABCA6	17	67124790	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	17777	67124790	14070420	12646	16262											
ABCA6	23460	broad.mit.edu	37	17	67130869	67130869	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:67130869C>A	ENST00000284425.2	-	5	649	c.475G>T	c.(475-477)Gga>Tga	p.G159*		NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	159					transport	integral to membrane	ATP binding|ATPase activity			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					TCACCATATCCATCCCAGCAA	0.378													6	55					0.217242	0.218703	1	1	0	A	67130869	C	A	67130869	4	1	81	1	0	0	0	0	0	1	0	0	36	603	21	5	4518	5	ABCA6	17	67130869	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	6079	67130869	14064341	12647	16263											
ABCA10	10349	broad.mit.edu	37	17	67189381	67189381	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:67189381C>T	ENST00000269081.4	-	16	2559	c.1650G>A	c.(1648-1650)ctG>ctA	p.L550L	ABCA10_ENST00000416101.2_3'UTR	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	550	ABC transporter 1.				transport	integral to membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					GTTCATCTAGCAGCAAAACCT	0.448													21	37					0	0	1	0	0	T	67189381	C	T	67189381	2	4	81	1	0	0	0	0	0	0	0	1	29	697	25	2		2	ABCA10	17	67189381	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	58512	67189381	14005829	12648	16264											
ABCA10	10349	broad.mit.edu	37	17	67197727	67197727	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:67197727G>T	ENST00000269081.4	-	11	1998	c.1089C>A	c.(1087-1089)atC>atA	p.I363I	ABCA10_ENST00000416101.2_Silent_p.I363I|ABCA10_ENST00000432313.2_Silent_p.I363I	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	363					transport	integral to membrane	ATP binding|ATPase activity	p.I363I(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					CATTCTCAAAGATTTCATGAT	0.338													26	56					7.92952e-12	9.86359e-12	1	1	0	T	67197727	G	T	67197727	2	4	81	1	0	0	0	0	0	0	0	1	29	932	33	4		4	ABCA10	17	67197727	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	8346	67197727	13997483	12649	16265											
ABCA5	23461	broad.mit.edu	37	17	67246065	67246065	+	Silent	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:67246065A>T	ENST00000392676.3	-	37	4810	c.4746T>A	c.(4744-4746)tcT>tcA	p.S1582S	ABCA5_ENST00000392677.2_Silent_p.S1583S|ABCA5_ENST00000588877.1_Silent_p.S1582S			Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 5	1582					cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)					GCTTAAAAAAAGATTGTGAAA	0.284													4	34					0	0	1	0	0	T	67246065	A	T	67246065	2	4	81	1	0	0	0	0	0	0	0	1	35	59	3	5		5	ABCA5	17	67246065	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	48338	67246065	13949145	12650	16266											
ABCA5	23461	broad.mit.edu	37	17	67273863	67273863	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:67273863C>T	ENST00000392676.3	-	19	2577	c.2513G>A	c.(2512-2514)aGc>aAc	p.S838N	ABCA5_ENST00000392677.2_Missense_Mutation_p.S838N|ABCA5_ENST00000588877.1_Missense_Mutation_p.S838N			Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 5	838					cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)					TTTCCAAAGGCTCATGGTGCT	0.373													23	38					0	0	1	0	0	T	67273863	C	T	67273863	3	4	81	1	0	0	0	0	1	0	0	0	35	797	28	2	2499	2	ABCA5	17	67273863	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	27798	67273863	13921347	12651	16267											
ABCA5	23461	broad.mit.edu	37	17	67286071	67286071	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:67286071T>G	ENST00000392676.3	-	13	1778	c.1714A>C	c.(1714-1716)Aca>Cca	p.T572P	ABCA5_ENST00000392677.2_Missense_Mutation_p.T572P|ABCA5_ENST00000588877.1_Missense_Mutation_p.T572P			Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 5	572	ABC transporter 1.				cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)					TCTTCTACTGTCAAAACATCA	0.299													19	41					0	0	1	0	0	G	67286071	T	G	67286071	3	3	81	1	0	0	0	0	1	0	0	0	35	1667	58	5	3322	5	ABCA5	17	67286071	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	12208	67286071	13909139	12652	16268											
MAP2K6	5608	broad.mit.edu	37	17	67537834	67537834	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:67537834C>A	ENST00000590474.1	+	12	1232	c.945C>A	c.(943-945)acC>acA	p.T315T	MAP2K6_ENST00000589647.1_Silent_p.T259T	NM_002758.3	NP_002749.2	P52564	MP2K6_HUMAN	mitogen-activated protein kinase kinase 6	315					activation of MAPK activity|cell cycle arrest|DNA damage induced protein phosphorylation|innate immune response|muscle cell differentiation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of muscle cell differentiation|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	20	Breast(10;6.05e-10)					CATTTTTCACCCTACATGAAT	0.358													6	74					0.00116845	0.00124301	1	1	0	A	67537834	C	A	67537834	2	1	81	1	0	0	0	0	0	0	0	1	9291	610	22	5		5	MAP2K6	17	67537834	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	251763	67537834	13657376	12653	16269											
KCNJ16	3773	broad.mit.edu	37	17	68129385	68129385	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:68129385C>A	ENST00000585558.1	+	4	1650	c.1262C>A	c.(1261-1263)cCt>cAt	p.P421H	KCNJ16_ENST00000589377.1_Missense_Mutation_p.P386H|KCNJ16_ENST00000392670.1_Missense_Mutation_p.P386H|KCNJ16_ENST00000392671.1_Missense_Mutation_p.P386H|KCNJ16_ENST00000283936.1_Missense_Mutation_p.P386H|KCNJ16_ENST00000586462.1_Missense_Mutation_p.P425H			Q9NPI9	IRK16_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 16	386					synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	32	Breast(10;2.96e-09)					TGTGAAAACCCTGAGGAGACC	0.468													7	54					0.248553	0.249876	1	1	0	A	68129385	C	A	68129385	3	1	81	1	0	0	0	0	1	0	0	0	8094	681	24	4	1159	4	KCNJ16	17	68129385	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	591551	68129385	13065825	12654	16270											
KCNJ16	3773	broad.mit.edu	37	17	68129430	68129430	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:68129430C>A	ENST00000585558.1	+	4	1695	c.1307C>A	c.(1306-1308)cCt>cAt	p.P436H	KCNJ16_ENST00000589377.1_Missense_Mutation_p.P401H|KCNJ16_ENST00000392670.1_Missense_Mutation_p.P401H|KCNJ16_ENST00000392671.1_Missense_Mutation_p.P401H|KCNJ16_ENST00000283936.1_Missense_Mutation_p.P401H|KCNJ16_ENST00000586462.1_Missense_Mutation_p.P440H			Q9NPI9	IRK16_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 16	401					synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	32	Breast(10;2.96e-09)					AGGGAAACACCTTATCAGAAA	0.428													5	60					1	1	1	1	0	A	68129430	C	A	68129430	3	1	81	1	0	0	0	0	1	0	0	0	8094	681	24	4	1204	4	KCNJ16	17	68129430	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	45	68129430	13065780	12655	16271											
KCNJ2	3759	broad.mit.edu	37	17	68171380	68171380	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:68171380G>A	ENST00000243457.3	+	2	583	c.200G>A	c.(199-201)cGg>cAg	p.R67Q	KCNJ2_ENST00000535240.1_Missense_Mutation_p.R67Q	NM_000891.2	NP_000882.1	P63252	IRK2_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 2	67			R -> W (in LQT7).		synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(13)|skin(1)|urinary_tract(1)	25	Breast(10;1.64e-08)					AAGGGGCAACGGTACCTCGCA	0.517													26	45					0	0	1	0	0	A	68171380	G	A	68171380	3	1	81	1	0	0	0	0	1	0	0	0	8095	1116	39	1	202	1	KCNJ2	17	68171380	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	41950	68171380	13023830	12656	16272											
KCNJ2	3759	broad.mit.edu	37	17	68172103	68172103	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:68172103C>T	ENST00000243457.3	+	2	1306	c.923C>T	c.(922-924)aCg>aTg	p.T308M	KCNJ2_ENST00000535240.1_Missense_Mutation_p.T308M	NM_000891.2	NP_000882.1	P63252	IRK2_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 2	308					synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity|protein binding	p.T308M(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(13)|skin(1)|urinary_tract(1)	25	Breast(10;1.64e-08)					ACTGCCATGACGACACAGTGC	0.463													5	39					0	0	1	0	0	T	68172103	C	T	68172103	3	4	81	1	0	0	0	0	1	0	0	0	8095	536	19	1	925	1	KCNJ2	17	68172103	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	723	68172103	13023107	12657	16273											
SSTR2	6752	broad.mit.edu	37	17	71165681	71165681	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:71165681A>C	ENST00000357585.2	+	2	592	c.223A>C	c.(223-225)Aag>Cag	p.K75Q	SSTR2_ENST00000315332.2_Missense_Mutation_p.K75Q|RP11-143K11.5_ENST00000580671.1_RNA	NM_001050.2	NP_001041.1	P30874	SSR2_HUMAN	somatostatin receptor 2	75					digestion|negative regulation of cell proliferation|response to nutrient	integral to plasma membrane	PDZ domain binding|somatostatin receptor activity			endometrium(2)|large_intestine(5)|lung(2)|prostate(2)	11			LUSC - Lung squamous cell carcinoma(166;0.197)			TGCCAAGATGAAGACCATCAC	0.483													10	54					0	0	1	0	0	C	71165681	A	C	71165681	3	2	81	1	0	0	0	0	1	0	0	0	15254	247	9	5	225	5	SSTR2	17	71165681	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	2993578	71165681	10029529	12658	16274											
COG1	9382	broad.mit.edu	37	17	71197678	71197678	+	Missense_Mutation	SNP	G	G	A	rs141750466	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:71197678G>A	ENST00000299886.4	+	7	1792	c.1712G>A	c.(1711-1713)cGg>cAg	p.R571Q		NM_018714.2	NP_061184.1	Q8WTW3	COG1_HUMAN	component of oligomeric golgi complex 1	571					Golgi organization|intra-Golgi vesicle-mediated transport|protein transport	Golgi membrane|Golgi transport complex	protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18			LUSC - Lung squamous cell carcinoma(166;0.197)			GAGATGCTGCGGACTCAGTCC	0.567													30	45					0	0	1	0	0	A	71197678	G	A	71197678	3	1	81	1	0	0	0	0	1	0	0	0	3680	1116	39	1	1738	1	COG1	17	71197678	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	31997	71197678	9997532	12659	16275											
CDC42EP4	23580	broad.mit.edu	37	17	71282025	71282025	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:71282025G>A	ENST00000335793.3	-	2	1009	c.615C>T	c.(613-615)tcC>tcT	p.S205S	CDC42EP4_ENST00000439510.2_Silent_p.S135S|CDC42EP4_ENST00000581014.1_Intron			Q9H3Q1	BORG4_HUMAN	CDC42 effector protein (Rho GTPase binding) 4	205					positive regulation of pseudopodium assembly|regulation of cell shape	actin cytoskeleton|cytoplasm|endomembrane system|membrane|microtubule cytoskeleton	GTP-Rho binding			cervix(2)|endometrium(3)|large_intestine(1)|lung(7)|urinary_tract(1)	14			LUSC - Lung squamous cell carcinoma(166;0.0352)|Lung(188;0.0711)			AGGACATGATGGACTCCGCAT	0.622													34	32					0	0	1	0	0	A	71282025	G	A	71282025	2	1	81	1	0	0	0	0	0	0	0	1	3100	1335	47	2		2	CDC42EP4	17	71282025	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	84347	71282025	9913185	12660	16276											
SDK2	54549	broad.mit.edu	37	17	71381994	71381994	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:71381994G>A	ENST00000392650.3	-	32	4561	c.4561C>T	c.(4561-4563)Cga>Tga	p.R1521*	SDK2_ENST00000388726.3_Nonsense_Mutation_p.R1521*	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	1521	Fibronectin type-III 10.				cell adhesion	integral to membrane				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						ACCTGCCATCGGATTAGCACG	0.652													6	9					0	0	1	0	0	A	71381994	G	A	71381994	4	1	81	1	0	0	0	0	0	1	0	0	14023	1124	39	1	2013	1	SDK2	17	71381994	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	99969	71381994	9813216	12661	16277											
SDK2	54549	broad.mit.edu	37	17	71384091	71384091	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:71384091G>A	ENST00000392650.3	-	30	4278	c.4278C>T	c.(4276-4278)agC>agT	p.S1426S	SDK2_ENST00000388726.3_Silent_p.S1426S	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	1426	Fibronectin type-III 9.				cell adhesion	integral to membrane				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						AGAGCCCGTCGCTCCCTGGCT	0.687													4	5					0	0	1	0	0	A	71384091	G	A	71384091	2	1	81	1	0	0	0	0	0	0	0	1	14023	1078	38	1		1	SDK2	17	71384091	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2097	71384091	9811119	12662	16278											
SDK2	54549	broad.mit.edu	37	17	71415339	71415339	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:71415339G>A	ENST00000392650.3	-	16	2152	c.2152C>T	c.(2152-2154)Cac>Tac	p.H718Y	SDK2_ENST00000388726.3_Missense_Mutation_p.H718Y	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	718	Fibronectin type-III 2.				cell adhesion	integral to membrane				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						CCATTCTGGTGGCTCTCAGGA	0.622													8	9					0	0	1	0	0	A	71415339	G	A	71415339	3	1	81	1	0	0	0	0	1	0	0	0	14023	1348	47	2	4486	2	SDK2	17	71415339	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	31248	71415339	9779871	12663	16279											
TTYH2	94015	broad.mit.edu	37	17	72249233	72249233	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:72249233G>A	ENST00000441391.2	+	6	1522	c.310G>A	c.(310-312)Gat>Aat	p.D104N	TTYH2_ENST00000269346.4_Missense_Mutation_p.D425N|TTYH2_ENST00000529107.1_Missense_Mutation_p.D404N	NM_052869.1	NP_443101.1	Q9BSA4	TTYH2_HUMAN	tweety family member 2	425						chloride channel complex|plasma membrane	chloride channel activity|protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(14)|ovary(3)|pancreas(1)|stomach(3)|upper_aerodigestive_tract(1)	36						CAGAGACTACGATGACATTGA	0.572													46	80					0	0	1	0	0	A	72249233	G	A	72249233	3	1	81	1	0	0	0	0	1	0	0	0	16802	1058	37	1	1319	1	TTYH2	17	72249233	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	833894	72249233	8945977	12664	16280											
TTYH2	94015	broad.mit.edu	37	17	72249269	72249269	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:72249269G>A	ENST00000441391.2	+	6	1558	c.346G>A	c.(346-348)Gcc>Acc	p.A116T	TTYH2_ENST00000269346.4_Missense_Mutation_p.A437T|TTYH2_ENST00000529107.1_Missense_Mutation_p.A416T	NM_052869.1	NP_443101.1	Q9BSA4	TTYH2_HUMAN	tweety family member 2	437						chloride channel complex|plasma membrane	chloride channel activity|protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(14)|ovary(3)|pancreas(1)|stomach(3)|upper_aerodigestive_tract(1)	36						TAACCCCCAAGCCTGGCGCAT	0.592													41	78					0	0	1	0	0	A	72249269	G	A	72249269	3	1	81	1	0	0	0	0	1	0	0	0	16802	971	34	2	1355	2	TTYH2	17	72249269	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	36	72249269	8945941	12665	16281											
DNAI2	64446	broad.mit.edu	37	17	72278016	72278016	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:72278016C>A	ENST00000579490.1	+	1	366	c.231C>A	c.(229-231)ttC>ttA	p.F77L	DNAI2_ENST00000307504.5_5'UTR|DNAI2_ENST00000446837.2_Missense_Mutation_p.F20L|DNAI2_ENST00000582036.1_Missense_Mutation_p.F20L|DNAI2_ENST00000311014.6_Missense_Mutation_p.F20L			Q9GZS0	DNAI2_HUMAN	dynein, axonemal, intermediate chain 2	20					cilium assembly	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						AGTGCAATTTCTCGGACCGCC	0.622									Kartagener syndrome				37	62					2.09667e-21	2.74506e-21	1	1	0	A	72278016	C	A	72278016	3	1	81	1	0	0	0	0	1	0	0	0	4637	912	32	4	62	4	DNAI2	17	72278016	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	28747	72278016	8917194	12666	16282											
DNAI2	64446	broad.mit.edu	37	17	72297261	72297261	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:72297261T>G	ENST00000579490.1	+	7	1247	c.1112T>G	c.(1111-1113)tTg>tGg	p.L371W	DNAI2_ENST00000307504.5_Missense_Mutation_p.L171W|DNAI2_ENST00000446837.2_Missense_Mutation_p.L314W|DNAI2_ENST00000582036.1_Missense_Mutation_p.L314W|DNAI2_ENST00000311014.6_Missense_Mutation_p.L314W			Q9GZS0	DNAI2_HUMAN	dynein, axonemal, intermediate chain 2	314					cilium assembly	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						AAGGAACAGTTGGAAAATGCC	0.562									Kartagener syndrome				55	81					0	0	1	0	0	G	72297261	T	G	72297261	3	3	81	1	0	0	0	0	1	0	0	0	4637	1821	63	5	967	5	DNAI2	17	72297261	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	19245	72297261	8897949	12667	16283											
KIF19	124602	broad.mit.edu	37	17	72339248	72339248	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:72339248C>T	ENST00000389916.4	+	5	543	c.405C>T	c.(403-405)atC>atT	p.I135I		NM_153209.3	NP_694941.2	Q2TAC6	KIF19_HUMAN	kinesin family member 19	135	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						TCCGTGCCATCGAGGAGACCA	0.597													11	21					0	0	1	0	0	T	72339248	C	T	72339248	2	4	81	1	0	0	0	0	0	0	0	1	8324	874	31	1		1	KIF19	17	72339248	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	41987	72339248	8855962	12668	16284											
KIF19	124602	broad.mit.edu	37	17	72345413	72345413	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:72345413C>T	ENST00000389916.4	+	10	1276	c.1138C>T	c.(1138-1140)Cgc>Tgc	p.R380C		NM_153209.3	NP_694941.2	Q2TAC6	KIF19_HUMAN	kinesin family member 19	380					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						GCGACTCAAGCGCAAGATTGA	0.632													10	20					0	0	1	0	0	T	72345413	C	T	72345413	3	4	81	1	0	0	0	0	1	0	0	0	8324	768	27	1	1176	1	KIF19	17	72345413	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	6165	72345413	8849797	12669	16285											
KIF19	124602	broad.mit.edu	37	17	72349048	72349048	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:72349048C>T	ENST00000389916.4	+	15	2207	c.2069C>T	c.(2068-2070)gCc>gTc	p.A690V		NM_153209.3	NP_694941.2	Q2TAC6	KIF19_HUMAN	kinesin family member 19	690					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						AGCTCTGATGCCCAGCACCTG	0.627													25	36					0	0	1	0	0	T	72349048	C	T	72349048	3	4	81	1	0	0	0	0	1	0	0	0	8324	739	26	2	2127	2	KIF19	17	72349048	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3635	72349048	8846162	12670	16286											
BTBD17	388419	broad.mit.edu	37	17	72356130	72356130	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:72356130C>T	ENST00000375366.3	-	2	466	c.340G>A	c.(340-342)Gct>Act	p.A114T		NM_001080466.1	NP_001073935.1	A6NE02	BTBDH_HUMAN	BTB (POZ) domain containing 17	114	BTB.					extracellular region				endometrium(1)|kidney(1)|lung(4)	6						TCGAAGACAGCGGCGCAGTCC	0.637													24	29					0	0	1	0	0	T	72356130	C	T	72356130	3	4	81	1	0	0	0	0	1	0	0	0	1544	768	27	1	1104	1	BTBD17	17	72356130	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	7082	72356130	8839080	12671	16287											
CD300A	11314	broad.mit.edu	37	17	72470740	72470740	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:72470740C>A	ENST00000360141.3	+	3	737	c.449C>A	c.(448-450)cCt>cAt	p.P150H	CD300A_ENST00000361933.3_Intron|CD300A_ENST00000310828.5_Missense_Mutation_p.P37H|CD300A_ENST00000577511.1_Missense_Mutation_p.P20H|CD300A_ENST00000392625.3_Missense_Mutation_p.P37H	NM_001256841.1|NM_007261.3	NP_001243770.1|NP_009192.2	Q9UGN4	CLM8_HUMAN	CD300a molecule	150					cell adhesion	integral to membrane|plasma membrane	receptor activity			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(4)|urinary_tract(1)	16						GCATTTCCACCTGTATCATCC	0.537													6	50					0.00116845	0.00124301	1	1	0	A	72470740	C	A	72470740	3	1	81	1	0	0	0	0	1	0	0	0	3018	681	24	4	459	4	CD300A	17	72470740	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	114610	72470740	8724470	12672	16288											
CD300C	10871	broad.mit.edu	37	17	72540830	72540830	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:72540830G>A	ENST00000330793.1	-	2	678	c.318C>T	c.(316-318)ggC>ggT	p.G106G		NM_006678.3	NP_006669.1	Q08708	CLM6_HUMAN	CD300c molecule	106	Ig-like V-type.				cellular defense response	integral to plasma membrane	transmembrane receptor activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|skin(2)|upper_aerodigestive_tract(1)	21						ACCAGTAGGTGCCTGCGTCCT	0.572													23	39					0	0	1	0	0	A	72540830	G	A	72540830	2	1	81	1	0	0	0	0	0	0	0	1	3019	1306	46	2		2	CD300C	17	72540830	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	70090	72540830	8654380	12673	16289											
CD300E	342510	broad.mit.edu	37	17	72613389	72613389	+	Missense_Mutation	SNP	C	C	T	rs144682080	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:72613389C>T	ENST00000392619.1	-	2	372	c.337G>A	c.(337-339)Gcc>Acc	p.A113T	CD300E_ENST00000426295.2_Missense_Mutation_p.A127T|CD300E_ENST00000328630.3_Missense_Mutation_p.A86T	NM_181449.2	NP_852114.2	Q496F6	CLM2_HUMAN	CD300e molecule	86	Ig-like V-type.					integral to membrane|plasma membrane	receptor activity			breast(1)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	19						ACAGTGAAGGCGAGAGCCTCC	0.532													19	53					0	0	1	0	0	T	72613389	C	T	72613389	3	4	81	1	0	0	0	0	1	0	0	0	3020	768	27	1	373	1	CD300E	17	72613389	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	72559	72613389	8581821	12674	16290											
RAB37	326624	broad.mit.edu	37	17	72725432	72725432	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:72725432C>A	ENST00000340415.3	+	2	1119	c.110C>A	c.(109-111)tCt>tAt	p.S37Y	RAB37_ENST00000402449.4_Missense_Mutation_p.S37Y	NM_175738.4	NP_783865.1	Q96AX2	RAB37_HUMAN	RAB37, member RAS oncogene family	44					protein transport|small GTPase mediated signal transduction	ER-Golgi intermediate compartment	GTP binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	12						GGAAAGACGTCTCTGCTGGTT	0.587													35	59					4.32679e-17	5.57264e-17	1	1	0	A	72725432	C	A	72725432	3	1	81	1	0	0	0	0	1	0	0	0	12979	913	32	4	116	4	RAB37	17	72725432	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	112043	72725432	8469778	12675	16291											
SLC9A3R1	9368	broad.mit.edu	37	17	72758167	72758167	+	Missense_Mutation	SNP	G	G	A	rs41282065	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:72758167G>A	ENST00000262613.5	+	2	653	c.458G>A	c.(457-459)cGg>cAg	p.R153Q	SLC9A3R1_ENST00000413388.2_5'UTR	NM_004252.4	NP_004243.1	O14745	NHRF1_HUMAN	solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 regulator 1	153			R -> Q (in NPHLOP2; the mutant expressed in cultured renal cells increases the generation of cAMP by PTH and inhibits phosphate transport; dbSNP:rs41282065).		apoptosis|bile acid secretion|glutathione transport|microvillus assembly|negative regulation of cell proliferation|negative regulation of ERK1 and ERK2 cascade|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|protein complex assembly|regulation of protein kinase activity|regulation of sodium:hydrogen antiporter activity|renal absorption|Wnt receptor signaling pathway	actin cytoskeleton|apical plasma membrane|centrosome|endomembrane system|filopodium|intracellular membrane-bounded organelle|microvillus membrane|ruffle	beta-2 adrenergic receptor binding|beta-catenin binding|chloride channel regulator activity|growth factor receptor binding|PDZ domain binding|phosphatase binding|protein self-association			large_intestine(4)	4						CTTCGGCCTCGGCTCTGTACC	0.627													19	29					0	0	1	0	0	A	72758167	G	A	72758167	3	1	81	1	0	0	0	0	1	0	0	0	14769	1116	39	1	464	1	SLC9A3R1	17	72758167	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	32735	72758167	8437043	12676	16292											
NAT9	26151	broad.mit.edu	37	17	72769101	72769101	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:72769101C>A	ENST00000357814.3	-	4	341	c.268G>T	c.(268-270)Gat>Tat	p.D90Y	NAT9_ENST00000583476.1_Missense_Mutation_p.D90Y|NAT9_ENST00000578822.1_Missense_Mutation_p.D95Y|NAT9_ENST00000582524.1_Missense_Mutation_p.D90Y|NAT9_ENST00000580216.1_5'UTR|NAT9_ENST00000582870.1_Missense_Mutation_p.D94Y|NAT9_ENST00000580301.1_Missense_Mutation_p.D89Y|NAT9_ENST00000580632.1_Missense_Mutation_p.D89Y|NAT9_ENST00000581136.1_Missense_Mutation_p.D90Y|NAT9_ENST00000583757.1_Missense_Mutation_p.D89Y	NM_015654.3	NP_056469.2	Q9BTE0	NAT9_HUMAN	N-acetyltransferase 9 (GCN5-related, putative)	90	N-acetyltransferase.					protein complex	N-acetyltransferase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)	8						AGGTTCACATCTCCCACCATG	0.567													8	23					0.00307968	0.00324365	1	1	0	A	72769101	C	A	72769101	3	1	81	1	0	0	0	0	1	0	0	0	10230	913	32	4	371	4	NAT9	17	72769101	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	10934	72769101	8426109	12677	16293											
GRIN2C	2905	broad.mit.edu	37	17	72846006	72846006	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:72846006C>T	ENST00000293190.5	-	7	1704	c.1558G>A	c.(1558-1560)Gta>Ata	p.V520I	GRIN2C_ENST00000347612.4_Missense_Mutation_p.V520I	NM_000835.3	NP_000826.2	Q14957	NMDE3_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2C	520					glutamate signaling pathway	cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|N-methyl-D-aspartate selective glutamate receptor activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	33	all_lung(278;0.172)|Lung NSC(278;0.207)				Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)	GAGAAGTCTACGATCTCGGAG	0.607													34	41					0	0	1	0	0	T	72846006	C	T	72846006	3	4	81	1	0	0	0	0	1	0	0	0	6822	536	19	1	2171	1	GRIN2C	17	72846006	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	76905	72846006	8349204	12678	16294											
FDXR	2232	broad.mit.edu	37	17	72861912	72861912	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:72861912C>T	ENST00000455107.2	-	7	822	c.406G>A	c.(406-408)Gtg>Atg	p.V136M	FDXR_ENST00000413947.2_Missense_Mutation_p.V211M|FDXR_ENST00000583917.1_Missense_Mutation_p.V181M|FDXR_ENST00000582944.1_Missense_Mutation_p.V172M|FDXR_ENST00000442102.2_Missense_Mutation_p.V223M|FDXR_ENST00000420580.2_Missense_Mutation_p.V140M|FDXR_ENST00000544854.1_Missense_Mutation_p.V128M|FDXR_ENST00000581530.1_Missense_Mutation_p.V180M|FDXR_ENST00000293195.5_Missense_Mutation_p.V180M			P22570	ADRO_HUMAN	ferredoxin reductase	180					cholesterol metabolic process|electron transport chain|steroid biosynthetic process|transport	mitochondrial matrix	ferredoxin-NADP+ reductase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	16	all_lung(278;0.172)|Lung NSC(278;0.207)					CCCAGAATCACGGCTGTGTCA	0.642													9	24					0	0	1	0	0	T	72861912	C	T	72861912	3	4	81	1	0	0	0	0	1	0	0	0	5840	536	19	1	983	1	FDXR	17	72861912	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	15906	72861912	8333298	12679	16295											
FADS6	283985	broad.mit.edu	37	17	72877209	72877209	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:72877209T>C	ENST00000310226.6	-	4	729	c.715A>G	c.(715-717)Aac>Gac	p.N239D		NM_178128.3	NP_835229.2	Q8N9I5	FADS6_HUMAN	fatty acid desaturase 6	245					fatty acid biosynthetic process	integral to membrane	oxidoreductase activity			endometrium(3)|kidney(1)|lung(4)	8	all_lung(278;0.172)|Lung NSC(278;0.207)					TGGAAGATGTTGACGTGGAGG	0.617													4	16					0	0	1	0	0	C	72877209	T	C	72877209	3	2	81	1	0	0	0	0	1	0	0	0	5399	1812	63	3	349	3	FADS6	17	72877209	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	15297	72877209	8318001	12680	16296											
USH1G	124590	broad.mit.edu	37	17	72915984	72915984	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:72915984A>G	ENST00000319642.1	-	2	1129	c.947T>C	c.(946-948)gTg>gCg	p.V316A		NM_001282489.1|NM_173477.2	NP_001269418.1|NP_775748.2	Q495M9	USH1G_HUMAN	Usher syndrome 1G (autosomal recessive)	316					equilibrioception|photoreceptor cell maintenance|sensory perception of sound	actin cytoskeleton			HN1/USH1G(2)	endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(3)	14	all_lung(278;0.172)|Lung NSC(278;0.207)					TCTGCGGAACACCATGGTGCC	0.697													30	64					0	0	1	0	0	G	72915984	A	G	72915984	3	3	81	1	0	0	0	0	1	0	0	0	17095	159	6	3	446	3	USH1G	17	72915984	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	38775	72915984	8279226	12681	16297											
USH1G	124590	broad.mit.edu	37	17	72916250	72916250	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:72916250G>A	ENST00000319642.1	-	2	863	c.681C>T	c.(679-681)ggC>ggT	p.G227G		NM_001282489.1|NM_173477.2	NP_001269418.1|NP_775748.2	Q495M9	USH1G_HUMAN	Usher syndrome 1G (autosomal recessive)	227					equilibrioception|photoreceptor cell maintenance|sensory perception of sound	actin cytoskeleton			HN1/USH1G(2)	endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(3)	14	all_lung(278;0.172)|Lung NSC(278;0.207)					AGGTGCCTTCGCCGCCCTGCT	0.687													20	38					0	0	1	0	0	A	72916250	G	A	72916250	2	1	81	1	0	0	0	0	0	0	0	1	17095	1074	38	1		1	USH1G	17	72916250	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	266	72916250	8278960	12682	16298											
SLC16A5	9121	broad.mit.edu	37	17	73089826	73089826	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:73089826C>T	ENST00000450736.2	+	2	510	c.95C>T	c.(94-96)aCg>aTg	p.T32M	SLC16A5_ENST00000580123.1_Missense_Mutation_p.T32M|SLC16A5_ENST00000538213.2_Missense_Mutation_p.T72M|SLC16A5_ENST00000585293.1_3'UTR|SLC16A5_ENST00000329783.4_Missense_Mutation_p.T32M			O15375	MOT6_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 5	32					organic anion transport	integral to plasma membrane|membrane fraction	secondary active monocarboxylate transmembrane transporter activity|symporter activity			central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	all_lung(278;0.226)		LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)		Pyruvic acid(DB00119)	GGCTTCCCCACGTGTATCGGC	0.627													5	70					0	0	1	0	0	T	73089826	C	T	73089826	3	4	81	1	0	0	0	0	1	0	0	0	14466	536	19	1	97	1	SLC16A5	17	73089826	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	173576	73089826	8105384	12683	16299											
SLC16A5	9121	broad.mit.edu	37	17	73089920	73089920	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:73089920C>A	ENST00000450736.2	+	2	604	c.189C>A	c.(187-189)ctC>ctA	p.L63L	SLC16A5_ENST00000580123.1_Silent_p.L63L|SLC16A5_ENST00000538213.2_Silent_p.L103L|SLC16A5_ENST00000585293.1_3'UTR|SLC16A5_ENST00000329783.4_Silent_p.L63L			O15375	MOT6_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 5	63					organic anion transport	integral to plasma membrane|membrane fraction	secondary active monocarboxylate transmembrane transporter activity|symporter activity			central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	all_lung(278;0.226)		LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)		Pyruvic acid(DB00119)	CGGCTGTGCTCCACATGGCAG	0.592													6	87					0.0215528	0.0221217	1	1	0	A	73089920	C	A	73089920	2	1	81	1	0	0	0	0	0	0	0	1	14466	842	30	5		5	SLC16A5	17	73089920	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	94	73089920	8105290	12684	16300											
SLC16A5	9121	broad.mit.edu	37	17	73094231	73094231	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:73094231T>C	ENST00000450736.2	+	3	713	c.298T>C	c.(298-300)Tct>Cct	p.S100P	SLC16A5_ENST00000580123.1_Missense_Mutation_p.S100P|SLC16A5_ENST00000538213.2_Missense_Mutation_p.S140P|SLC16A5_ENST00000585293.1_3'UTR|SLC16A5_ENST00000329783.4_Missense_Mutation_p.S100P			O15375	MOT6_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 5	100					organic anion transport	integral to plasma membrane|membrane fraction	secondary active monocarboxylate transmembrane transporter activity|symporter activity			central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	all_lung(278;0.226)		LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)		Pyruvic acid(DB00119)	CAGCTCCTTCTCTCACAACCT	0.587													9	113					0	0	1	0	0	C	73094231	T	C	73094231	3	2	81	1	0	0	0	0	1	0	0	0	14466	1551	54	3	304	3	SLC16A5	17	73094231	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	4311	73094231	8100979	12685	16301											
SLC16A5	9121	broad.mit.edu	37	17	73096509	73096509	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:73096509G>A	ENST00000450736.2	+	4	1166	c.751G>A	c.(751-753)Ggc>Agc	p.G251S	SLC16A5_ENST00000580123.1_Missense_Mutation_p.G251S|SLC16A5_ENST00000538213.2_Missense_Mutation_p.G291S|SLC16A5_ENST00000329783.4_Missense_Mutation_p.G251S			O15375	MOT6_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 5	251					organic anion transport	integral to plasma membrane|membrane fraction	secondary active monocarboxylate transmembrane transporter activity|symporter activity			central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	all_lung(278;0.226)		LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)		Pyruvic acid(DB00119)	GTCCGTCCTGGGCTTCCCACT	0.607													108	153					0	0	1	0	0	A	73096509	G	A	73096509	3	1	81	1	0	0	0	0	1	0	0	0	14466	1232	43	2	761	2	SLC16A5	17	73096509	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2278	73096509	8098701	12686	16302											
NT5C	30833	broad.mit.edu	37	17	73126698	73126698	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:73126698G>T	ENST00000245552.2	-	5	578	c.491C>A	c.(490-492)aCc>aAc	p.T164N	NT5C_ENST00000582160.1_Missense_Mutation_p.T78N|NT5C_ENST00000578337.1_3'UTR|NT5C_ENST00000582170.1_Missense_Mutation_p.H162Q	NM_014595.2	NP_055410.1	Q8TCD5	NT5C_HUMAN	5', 3'-nucleotidase, cytosolic	164					purine base metabolic process|purine nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine deoxyribonucleotide catabolic process|pyrimidine nucleoside catabolic process	cytosol|nucleus	5'-nucleotidase activity|metal ion binding|pyrimidine nucleotide binding					all_lung(278;0.14)|Lung NSC(278;0.168)		LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)			GTGGCAGCAGGTGAACAAGAT	0.577											OREG0024728	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	19	43					1.01871e-10	1.25121e-10	1	1	0	T	73126698	G	T	73126698	3	4	81	1	0	0	0	0	1	0	0	0	10732	1261	44	5	118	5	NT5C	17	73126698	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	30189	73126698	8068512	12687	16303											
NUP85	79902	broad.mit.edu	37	17	73231231	73231231	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:73231231C>T	ENST00000245544.4	+	18	1875	c.1804C>T	c.(1804-1806)Cgg>Tgg	p.R602W	NUP85_ENST00000541827.1_Missense_Mutation_p.R556W|NUP85_ENST00000579298.1_Missense_Mutation_p.R557W|NUP85_ENST00000579324.1_Missense_Mutation_p.R490W|NUP85_ENST00000447371.2_3'UTR|NUP85_ENST00000540768.1_Missense_Mutation_p.R205W	NM_024844.3	NP_079120.1	Q9BW27	NUP85_HUMAN	nucleoporin 85kDa	602					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|nuclear membrane|Nup107-160 complex|spindle	protein binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	16	all_lung(278;0.14)|Lung NSC(278;0.168)		all cancers(21;3.45e-06)			TGAGTTGATGCGGTGTCTGGA	0.537													15	26					0	0	1	0	0	T	73231231	C	T	73231231	3	4	81	1	0	0	0	0	1	0	0	0	10818	759	27	1	1874	1	NUP85	17	73231231	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	104533	73231231	7963979	12688	16304											
MRPS7	51081	broad.mit.edu	37	17	73258623	73258623	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:73258623T>G	ENST00000579761.1	+	2	356	c.129T>G	c.(127-129)gaT>gaG	p.D43E	MRPS7_ENST00000579002.1_Missense_Mutation_p.D72E|MRPS7_ENST00000245539.6_Missense_Mutation_p.D43E			Q9Y2R9	RT07_HUMAN	mitochondrial ribosomal protein S7	43					translation	cytosolic small ribosomal subunit|mitochondrion	protein binding|RNA binding|structural constituent of ribosome			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)	6	all_cancers(13;1.25e-07)|all_epithelial(9;2.63e-08)|Breast(9;1.06e-07)		all cancers(21;3.02e-07)|Epithelial(20;2.92e-06)			AATTCAAGGATCCCTTGATTG	0.512													72	140					0	0	1	0	0	G	73258623	T	G	73258623	3	3	81	1	0	0	0	0	1	0	0	0	9897	1432	50	4	135	4	MRPS7	17	73258623	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	27392	73258623	7936587	12689	16305											
MRPS7	51081	broad.mit.edu	37	17	73261787	73261787	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:73261787C>A	ENST00000579002.1	+	4	1014	c.599C>A	c.(598-600)cCt>cAt	p.P200H	MRPS7_ENST00000245539.6_Missense_Mutation_p.P171H			Q9Y2R9	RT07_HUMAN	mitochondrial ribosomal protein S7	171					translation	cytosolic small ribosomal subunit|mitochondrion	protein binding|RNA binding|structural constituent of ribosome			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)	6	all_cancers(13;1.25e-07)|all_epithelial(9;2.63e-08)|Breast(9;1.06e-07)		all cancers(21;3.02e-07)|Epithelial(20;2.92e-06)			ACCCAGGTCCCTGTACCCCTA	0.582													12	33					0.000219431	0.000239308	1	1	0	A	73261787	C	A	73261787	3	1	81	1	0	0	0	0	1	0	0	0	9897	681	24	4	530	4	MRPS7	17	73261787	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3164	73261787	7933423	12690	16306											
SLC25A19	60386	broad.mit.edu	37	17	73274401	73274401	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:73274401G>A	ENST00000402418.3	-	4	1384	c.475C>T	c.(475-477)Cgc>Tgc	p.R159C	SLC25A19_ENST00000442286.2_Missense_Mutation_p.R159C|SLC25A19_ENST00000580994.1_Missense_Mutation_p.R159C|SLC25A19_ENST00000416858.2_Missense_Mutation_p.R159C|SLC25A19_ENST00000320362.3_Missense_Mutation_p.R159C|SLC25A19_ENST00000375261.4_Missense_Mutation_p.R102C			Q9HC21	TPC_HUMAN	solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19	159						integral to membrane|mitochondrial inner membrane	binding|deoxynucleotide transmembrane transporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	9	all_cancers(13;5.98e-08)|all_epithelial(9;1.16e-08)|Breast(9;3.1e-08)		all cancers(21;6.82e-07)|Epithelial(20;6.86e-06)			ACGGCGTGGCGCAGCGTATTA	0.567													10	80					0	0	1	0	0	A	73274401	G	A	73274401	3	1	81	1	0	0	0	0	1	0	0	0	14536	1087	38	1	499	1	SLC25A19	17	73274401	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	12614	73274401	7920809	12691	16307											
KIAA0195	9772	broad.mit.edu	37	17	73491697	73491697	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:73491697C>T	ENST00000314256.7	+	22	3311	c.2917C>T	c.(2917-2919)Ccc>Tcc	p.P973S	KIAA0195_ENST00000375248.5_Missense_Mutation_p.P983S|KIAA0195_ENST00000579208.1_Missense_Mutation_p.P624S	NM_014738.4	NP_055553.3	Q12767	K0195_HUMAN	KIAA0195	973					ATP biosynthetic process|cation transport	integral to membrane	ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism			breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1)	42	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			CCTGCTAGTGCCCCTTTTCAC	0.637													78	128					0	0	1	0	0	T	73491697	C	T	73491697	3	4	81	1	0	0	0	0	1	0	0	0	8202	739	26	2	2999	2	KIAA0195	17	73491697	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	217296	73491697	7703513	12692	16308											
KIAA0195	9772	broad.mit.edu	37	17	73492414	73492414	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:73492414C>T	ENST00000314256.7	+	24	3499	c.3105C>T	c.(3103-3105)ggC>ggT	p.G1035G	KIAA0195_ENST00000375248.5_Silent_p.G1045G|KIAA0195_ENST00000579208.1_Silent_p.G686G	NM_014738.4	NP_055553.3	Q12767	K0195_HUMAN	KIAA0195	1035					ATP biosynthetic process|cation transport	integral to membrane	ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism			breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1)	42	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			AGACCTTTGGCTACGCCACCA	0.622													16	27					0	0	1	0	0	T	73492414	C	T	73492414	2	4	81	1	0	0	0	0	0	0	0	1	8202	784	28	2		2	KIAA0195	17	73492414	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	717	73492414	7702796	12693	16309											
CASKIN2	57513	broad.mit.edu	37	17	73499250	73499250	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:73499250G>A	ENST00000321617.3	-	18	2491	c.1905C>T	c.(1903-1905)ggC>ggT	p.G635G	CASKIN2_ENST00000433559.2_Silent_p.G553G	NM_020753.3	NP_065804.2	Q8WXE0	CSKI2_HUMAN	CASK interacting protein 2	635						cytoplasm				endometrium(1)|kidney(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			GCCGGCGCCCGCCTTCGCTGA	0.692													4	7					0	0	1	0	0	A	73499250	G	A	73499250	2	1	81	1	0	0	0	0	0	0	0	1	2685	1074	38	1		1	CASKIN2	17	73499250	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	6836	73499250	7695960	12694	16310											
LLGL2	3993	broad.mit.edu	37	17	73569667	73569667	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:73569667G>A	ENST00000392550.3	+	21	2948	c.2831G>A	c.(2830-2832)cGc>cAc	p.R944H	LLGL2_ENST00000577200.1_Missense_Mutation_p.R944H|LLGL2_ENST00000167462.5_Missense_Mutation_p.R944H	NM_001031803.1	NP_001026973.1	Q6P1M3	L2GL2_HUMAN	lethal giant larvae homolog 2 (Drosophila)	944					cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity	cytoplasm|intracellular membrane-bounded organelle	PDZ domain binding			NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)			AAGAACCACCGCCCTGGTAAC	0.652													21	31					0	0	1	0	0	A	73569667	G	A	73569667	3	1	81	1	0	0	0	0	1	0	0	0	8875	1087	38	1	2944	1	LLGL2	17	73569667	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	70417	73569667	7625543	12695	16311											
RECQL5	9400	broad.mit.edu	37	17	73627598	73627598	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:73627598G>T	ENST00000317905.5	-	9	1539	c.1380C>A	c.(1378-1380)ccC>ccA	p.P460P	RECQL5_ENST00000423245.2_Silent_p.P433P|RECQL5_ENST00000443199.2_5'UTR	NM_004259.6	NP_004250.4	O94762	RECQ5_HUMAN	RecQ protein-like 5	460					DNA recombination|DNA repair	cytoplasm|nuclear membrane|nucleolus|nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA helicase activity|nucleic acid binding			breast(1)|cervix(3)|endometrium(3)|kidney(7)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	36	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)			TCCCCTGGGAGGGCCCGATGC	0.687								Other identified genes with known or suspected DNA repair function					27	42					7.92952e-12	9.86359e-12	1	1	0	T	73627598	G	T	73627598	2	4	81	1	0	0	0	0	0	0	0	1	13255	987	35	4		4	RECQL5	17	73627598	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	57931	73627598	7567612	12696	16312											
RECQL5	9400	broad.mit.edu	37	17	73658586	73658586	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:73658586C>A	ENST00000420326.2	-	4	903	c.744G>T	c.(742-744)aaG>aaT	p.K248N	RECQL5_ENST00000423245.2_Missense_Mutation_p.K221N|RECQL5_ENST00000340830.5_Missense_Mutation_p.K248N|RECQL5_ENST00000584999.1_Missense_Mutation_p.K248N|RECQL5_ENST00000317905.5_Missense_Mutation_p.K248N	NM_001003715.3|NM_001003716.3	NP_001003715.1|NP_001003716.1	O94762	RECQ5_HUMAN	RecQ protein-like 5	248	Helicase C-terminal.				DNA recombination|DNA repair	cytoplasm|nuclear membrane|nucleolus|nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA helicase activity|nucleic acid binding			breast(1)|cervix(3)|endometrium(3)|kidney(7)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	36	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)			GTCCAAGAGCCTTAAGGCAGA	0.512								Other identified genes with known or suspected DNA repair function					24	308					9.90768e-06	1.12099e-05	1	1	0	A	73658586	C	A	73658586	3	1	81	1	0	0	0	0	1	0	0	0	13255	680	24	4	2386	4	RECQL5	17	73658586	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	30988	73658586	7536624	12697	16313											
SAP30BP	29115	broad.mit.edu	37	17	73702562	73702562	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:73702562C>T	ENST00000584667.1	+	11	1145	c.888C>T	c.(886-888)atC>atT	p.I296I	SAP30BP_ENST00000355423.3_Silent_p.I280I	NM_013260.6	NP_037392.1	Q9UHR5	S30BP_HUMAN	SAP30 binding protein	296					apoptosis|induction of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)	17	all_cancers(13;6.42e-08)		all cancers(21;4.25e-07)|Epithelial(20;9.57e-07)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			CCACCGTCATCTCTGCTGTGG	0.622													50	73					0	0	1	0	0	T	73702562	C	T	73702562	2	4	81	1	0	0	0	0	0	0	0	1	13887	903	32	2		2	SAP30BP	17	73702562	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	43976	73702562	7492648	12698	16314											
ITGB4	3691	broad.mit.edu	37	17	73723542	73723542	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:73723542C>T	ENST00000200181.3	+	4	407	c.220C>T	c.(220-222)Cgg>Tgg	p.R74W	ITGB4_ENST00000450894.3_Missense_Mutation_p.R74W|ITGB4_ENST00000579662.1_Missense_Mutation_p.R74W|ITGB4_ENST00000449880.2_Missense_Mutation_p.R74W|ITGB4_ENST00000339591.3_Missense_Mutation_p.R74W|ITGB4_ENST00000584558.1_3'UTR	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	74					cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			GGGCTGCCAGCGGGAGAGCAT	0.652													10	11					0	0	1	0	0	T	73723542	C	T	73723542	3	4	81	1	0	0	0	0	1	0	0	0	7941	759	27	1	230	1	ITGB4	17	73723542	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	20980	73723542	7471668	12699	16315											
ITGB4	3691	broad.mit.edu	37	17	73746348	73746348	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:73746348G>T	ENST00000200181.3	+	28	3660	c.3473G>T	c.(3472-3474)aGg>aTg	p.R1158M	ITGB4_ENST00000450894.3_Splice_Site_p.R1158M|ITGB4_ENST00000579662.1_Splice_Site_p.R1158M|ITGB4_ENST00000449880.2_Splice_Site_p.R1158M|ITGB4_ENST00000339591.3_Splice_Site_p.R1158M	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	1158	Fibronectin type-III 1.				cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			ATGGGGTACAGGGTAAGGCGG	0.657											OREG0024739	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	15					0.00909568	0.00944708	1	1	0	T	73746348	G	T	73746348	5	4	81	1	0	0	0	0	0	0	1	0	7941	1014	35	4	3579	4	ITGB4	17	73746348	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	22806	73746348	7448862	12700	16316											
ITGB4	3691	broad.mit.edu	37	17	73748345	73748345	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:73748345G>A	ENST00000200181.3	+	31	4071	c.3884G>A	c.(3883-3885)cGc>cAc	p.R1295H	ITGB4_ENST00000450894.3_Missense_Mutation_p.R1295H|ITGB4_ENST00000579662.1_Missense_Mutation_p.R1295H|ITGB4_ENST00000449880.2_Missense_Mutation_p.R1295H|GALK1_ENST00000225614.2_Intron|ITGB4_ENST00000339591.3_Missense_Mutation_p.R1295H	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	1295	Fibronectin type-III 2.				cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			CAGCCCTACCGCTACACGGTG	0.622													6	120					0	0	1	0	0	A	73748345	G	A	73748345	3	1	81	1	0	0	0	0	1	0	0	0	7941	1087	38	1	4002	1	ITGB4	17	73748345	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1997	73748345	7446865	12701	16317											
UNK	85451	broad.mit.edu	37	17	73808617	73808617	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:73808617G>A	ENST00000293218.3	+	5	801	c.801G>A	c.(799-801)gcG>gcA	p.A267A	UNK_ENST00000589666.1_Silent_p.A191A			Q9C0B0	UNK_HUMAN	unkempt family zinc finger	191							nucleic acid binding|zinc ion binding			cervix(3)|endometrium(8)|kidney(2)|large_intestine(5)|lung(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	25			all cancers(21;2.61e-06)|Epithelial(20;7.39e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|LUSC - Lung squamous cell carcinoma(166;0.154)			CTGGGGCTGCGAGCCATGCCA	0.607													4	23					0	0	1	0	0	A	73808617	G	A	73808617	2	1	81	1	0	0	0	0	0	0	0	1	17060	1045	37	1		1	UNK	17	73808617	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	60272	73808617	7386593	12702	16318											
UNC13D	201294	broad.mit.edu	37	17	73835975	73835975	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:73835975C>T	ENST00000207549.4	-	12	1379	c.1000G>A	c.(1000-1002)Gtc>Atc	p.V334I	UNC13D_ENST00000412096.2_Missense_Mutation_p.V334I|UNC13D_ENST00000587504.1_5'UTR	NM_199242.2	NP_954712.1	Q70J99	UN13D_HUMAN	unc-13 homolog D (C. elegans)	334	Interaction with RAB27A.				positive regulation of exocytosis|regulation of mast cell degranulation	exocytic vesicle|late endosome|lysosome|membrane|recycling endosome	protein binding	p.V334I(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29			all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154)			AGAAAGAGGACGGTGGCAGCC	0.667									Familial Hemophagocytic Lymphohistiocytosis				14	43					0	0	1	0	0	T	73835975	C	T	73835975	3	4	81	1	0	0	0	0	1	0	0	0	17047	536	19	1	2356	1	UNC13D	17	73835975	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	27358	73835975	7359235	12703	16319											
WBP2	23558	broad.mit.edu	37	17	73851271	73851271	+	Translation_Start_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:73851271C>A	ENST00000585462.1	-	0	132				WBP2_ENST00000254806.3_Intron|WBP2_ENST00000344296.4_Intron|WBP2_ENST00000590450.1_Intron|WBP2_ENST00000590221.1_Intron|WBP2_ENST00000433525.2_Intron|WBP2_ENST00000591399.1_Intron			Q969T9	WBP2_HUMAN	WW domain binding protein 2								protein binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	7			all cancers(21;2.61e-06)|Epithelial(20;2.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00092)|LUSC - Lung squamous cell carcinoma(166;0.154)			CGCCCACTTCCTCGACACCCG	0.602													24	100					6.36457e-07	7.36578e-07	1	1	0	A	73851271	C	A	73851271	1	1	81	1	0	0	0	0	0	0	0	0	17319	696	24	4		4	WBP2	17	73851271	Translation_Start_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	15296	73851271	7343939	12704	16320											
TRIM47	91107	broad.mit.edu	37	17	73871043	73871043	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:73871043C>A	ENST00000254816.2	-	6	1464	c.1438G>T	c.(1438-1440)Ggc>Tgc	p.G480C	TRIM47_ENST00000587339.1_Missense_Mutation_p.G242C	NM_033452.2	NP_258411.2	Q96LD4	TRI47_HUMAN	tripartite motif containing 47	480	B30.2/SPRY.					cytoplasm|nucleus	zinc ion binding			autonomic_ganglia(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	22			Epithelial(20;4.23e-06)|all cancers(21;5.24e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00092)|LUSC - Lung squamous cell carcinoma(166;0.154)			TAGTAGGTGCCTCGGTCCAGG	0.622													4	34					0.150653	0.152522	1	1	0	A	73871043	C	A	73871043	3	1	81	1	0	0	0	0	1	0	0	0	16583	681	24	4	482	4	TRIM47	17	73871043	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	19772	73871043	7324167	12705	16321											
FBF1	85302	broad.mit.edu	37	17	73911096	73911096	+	Splice_Site	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:73911096A>G	ENST00000586717.1	-	23	2860		c.e23+1		FBF1_ENST00000389570.4_Splice_Site|FBF1_ENST00000319129.5_Splice_Site			A6NLR5	A6NLR5_HUMAN	Fas (TNFRSF6) binding factor 1											large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1)	4						GGCTTGACTCACCTTGGCCCG	0.652													5	35					0	0	1	0	0	G	73911096	A	G	73911096	5	3	81	1	0	0	0	0	0	0	1	0	5728	173	6	3	844	3	FBF1	17	73911096	Splice_Site	SNP	A	TCGA-DU-6392-01A-11D-1705-08	40053	73911096	7284114	12706	16322											
FBF1	85302	broad.mit.edu	37	17	73919558	73919558	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:73919558G>A	ENST00000586717.1	-	13	1364	c.1091C>T	c.(1090-1092)gCc>gTc	p.A364V	FBF1_ENST00000389570.4_Missense_Mutation_p.A364V|FBF1_ENST00000319129.5_Missense_Mutation_p.A363V			A6NLR5	A6NLR5_HUMAN	Fas (TNFRSF6) binding factor 1	363										large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1)	4						TTCCCGATGGGCCTCTCTGGT	0.652													6	4					0	0	1	0	0	A	73919558	G	A	73919558	3	1	81	1	0	0	0	0	1	0	0	0	5728	1203	42	2	2381	2	FBF1	17	73919558	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	8462	73919558	7275652	12707	16323											
ACOX1	51	broad.mit.edu	37	17	73951917	73951917	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:73951917G>T	ENST00000537812.1	-	5	1184	c.536C>A	c.(535-537)cCt>cAt	p.P179H	ACOX1_ENST00000293217.5_Missense_Mutation_p.P217H|ACOX1_ENST00000301608.4_Missense_Mutation_p.P217H	NM_001185039.1	NP_001171968.1	Q15067	ACOX1_HUMAN	acyl-CoA oxidase 1, palmitoyl	217					fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|prostaglandin metabolic process|very long-chain fatty acid metabolic process	peroxisomal matrix	acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity|flavin adenine dinucleotide binding|protein N-terminus binding			large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(1)	14						ACCTGGCAAAGGCTTATGGGT	0.428													24	209					7.92952e-12	9.86359e-12	1	1	0	T	73951917	G	T	73951917	3	4	81	1	0	0	0	0	1	0	0	0	158	1000	35	4	1372	4	ACOX1	17	73951917	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	32359	73951917	7243293	12708	16324											
ACOX1	51	broad.mit.edu	37	17	73951967	73951967	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:73951967A>G	ENST00000537812.1	-	5	1134	c.486T>C	c.(484-486)taT>taC	p.Y162Y	ACOX1_ENST00000293217.5_Silent_p.Y200Y|ACOX1_ENST00000591857.1_5'UTR|ACOX1_ENST00000301608.4_Silent_p.Y200Y	NM_001185039.1	NP_001171968.1	Q15067	ACOX1_HUMAN	acyl-CoA oxidase 1, palmitoyl	200					fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|prostaglandin metabolic process|very long-chain fatty acid metabolic process	peroxisomal matrix	acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity|flavin adenine dinucleotide binding|protein N-terminus binding			large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(1)	14						CATGTAATCCATAGCATTTCC	0.423													18	208					0	0	1	0	0	G	73951967	A	G	73951967	2	3	81	1	0	0	0	0	0	0	0	1	158	224	8	3		3	ACOX1	17	73951967	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	50	73951967	7243243	12709	16325											
ACOX1	51	broad.mit.edu	37	17	73969727	73969727	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:73969727C>T	ENST00000301608.4	-	3	469	c.409G>A	c.(409-411)Gcc>Acc	p.A137T	ACOX1_ENST00000293217.5_Intron|ACOX1_ENST00000591857.1_Intron|ACOX1_ENST00000537812.1_Intron	NM_007292.5	NP_009223.2	Q15067	ACOX1_HUMAN	acyl-CoA oxidase 1, palmitoyl	137					fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|prostaglandin metabolic process|very long-chain fatty acid metabolic process	peroxisomal matrix	acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity|flavin adenine dinucleotide binding|protein N-terminus binding			large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(1)	14						TCCGTCTGGGCGTAGGTGCCA	0.478													13	27					0	0	1	0	0	T	73969727	C	T	73969727	3	4	81	1	0	0	0	0	1	0	0	0	158	768	27	1	1786	1	ACOX1	17	73969727	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	17760	73969727	7225483	12710	16326											
EVPL	2125	broad.mit.edu	37	17	74003886	74003886	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:74003886C>T	ENST00000301607.3	-	22	5653	c.5400G>A	c.(5398-5400)ccG>ccA	p.P1800P	EVPL_ENST00000586740.1_Silent_p.P1822P	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	1800	Globular 2.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						GGGAGGCGAGCGGGGACTTGG	0.607													5	70					0	0	1	0	0	T	74003886	C	T	74003886	2	4	81	1	0	0	0	0	0	0	0	1	5320	755	27	1		1	EVPL	17	74003886	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	34159	74003886	7191324	12711	16327											
EVPL	2125	broad.mit.edu	37	17	74004796	74004796	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:74004796C>T	ENST00000301607.3	-	22	4743	c.4490G>A	c.(4489-4491)cGg>cAg	p.R1497Q	EVPL_ENST00000586740.1_Missense_Mutation_p.R1519Q	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	1497	Central fibrous rod domain.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						CTTGCACTCCCGATTCAGCTC	0.582													42	73					0	0	1	0	0	T	74004796	C	T	74004796	3	4	81	1	0	0	0	0	1	0	0	0	5320	652	23	1	1615	1	EVPL	17	74004796	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	910	74004796	7190414	12712	16328											
EVPL	2125	broad.mit.edu	37	17	74006603	74006603	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:74006603G>A	ENST00000301607.3	-	22	2936	c.2683C>T	c.(2683-2685)Cga>Tga	p.R895*	EVPL_ENST00000586740.1_Nonsense_Mutation_p.R917*	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	895	Central fibrous rod domain.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						TGGGTCCTTCGGATGTCCTCA	0.587													13	15					0	0	1	0	0	A	74006603	G	A	74006603	4	1	81	1	0	0	0	0	0	1	0	0	5320	1124	39	1	3422	1	EVPL	17	74006603	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1807	74006603	7188607	12713	16329											
SRP68	6730	broad.mit.edu	37	17	74060232	74060232	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:74060232A>C	ENST00000307877.2	-	4	547	c.386T>G	c.(385-387)aTg>aGg	p.M129R	SRP68_ENST00000539137.1_Missense_Mutation_p.M91R|SRP68_ENST00000355113.5_Missense_Mutation_p.M28R	NM_014230.3	NP_055045.2	Q9UHB9	SRP68_HUMAN	signal recognition particle 68kDa	129					response to drug	cytosol|endoplasmic reticulum|nucleolus|ribosome|signal recognition particle, endoplasmic reticulum targeting	RNA binding|signal recognition particle binding			NS(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|lung(4)|ovary(2)|prostate(3)	23						TTCAGCATCCATCAGAACCAG	0.493													40	55					0	0	1	0	0	C	74060232	A	C	74060232	3	2	81	1	0	0	0	0	1	0	0	0	15212	217	8	4	1549	4	SRP68	17	74060232	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	53629	74060232	7134978	12714	16330											
SRP68	6730	broad.mit.edu	37	17	74066475	74066475	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:74066475C>A	ENST00000307877.2	-	2	396	c.235G>T	c.(235-237)Gat>Tat	p.D79Y	SRP68_ENST00000539137.1_Missense_Mutation_p.D79Y|SRP68_ENST00000355113.5_Intron	NM_014230.3	NP_055045.2	Q9UHB9	SRP68_HUMAN	signal recognition particle 68kDa	79					response to drug	cytosol|endoplasmic reticulum|nucleolus|ribosome|signal recognition particle, endoplasmic reticulum targeting	RNA binding|signal recognition particle binding			NS(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|lung(4)|ovary(2)|prostate(3)	23						CTCTGAAAATCTCCATGCCGT	0.373													5	22					0.00198382	0.00209725	1	1	0	A	74066475	C	A	74066475	3	1	81	1	0	0	0	0	1	0	0	0	15212	913	32	4	1708	4	SRP68	17	74066475	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	6243	74066475	7128735	12715	16331											
ZACN	353174	broad.mit.edu	37	17	74077726	74077726	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:74077726G>A	ENST00000334586.5	+	7	853	c.770G>A	c.(769-771)cGg>cAg	p.R257Q	EXOC7_ENST00000607838.1_3'UTR|EXOC7_ENST00000589210.1_3'UTR|EXOC7_ENST00000591724.1_Intron|EXOC7_ENST00000332065.5_3'UTR	NM_180990.3	NP_851321.2	Q401N2	ZACN_HUMAN	zinc activated ligand-gated ion channel	257	Leu-rich.				response to zinc ion	integral to membrane|membrane fraction|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	11						CTGCCCCTCCGGGCCATTGAG	0.622													43	59					0	0	1	0	0	A	74077726	G	A	74077726	3	1	81	1	0	0	0	0	1	0	0	0	17570	1116	39	1	796	1	ZACN	17	74077726	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	11251	74077726	7117484	12716	16332											
EXOC7	23265	broad.mit.edu	37	17	74079743	74079743	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:74079743C>T	ENST00000607838.1	-	20	2204	c.2110G>A	c.(2110-2112)Gac>Aac	p.D704N	EXOC7_ENST00000589210.1_Missense_Mutation_p.D681N|EXOC7_ENST00000467929.2_Missense_Mutation_p.D653N|EXOC7_ENST00000405575.4_Missense_Mutation_p.D690N|EXOC7_ENST00000411744.2_Missense_Mutation_p.D673N|EXOC7_ENST00000335146.7_Missense_Mutation_p.D732N|EXOC7_ENST00000332065.5_Missense_Mutation_p.D650N	NM_001145297.2|NM_001145298.2|NM_001145299.2	NP_001138769.1|NP_001138770.1|NP_001138771.1	Q9UPT5	EXOC7_HUMAN	exocyst complex component 7	732					exocytosis|protein transport	centriolar satellite|cytosol|exocyst|plasma membrane	protein binding			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	14			LUSC - Lung squamous cell carcinoma(166;0.187)			GCAGAGGTGTCGAAAAGGCGA	0.582													32	44					0	0	1	0	0	T	74079743	C	T	74079743	3	4	81	1	0	0	0	0	1	0	0	0	5337	884	31	1	17	1	EXOC7	17	74079743	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2017	74079743	7115467	12717	16333											
QRICH2	84074	broad.mit.edu	37	17	74288647	74288647	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:74288647C>T	ENST00000262765.5	-	4	1842	c.1663G>A	c.(1663-1665)Gct>Act	p.A555T		NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN	glutamine rich 2	555	Gln-rich.						protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						CCAGGTTGAGCCAAATCACTC	0.532													16	33					0	0	1	0	0	T	74288647	C	T	74288647	3	4	81	1	0	0	0	0	1	0	0	0	12932	739	26	2	3392	2	QRICH2	17	74288647	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	208904	74288647	6906563	12718	16334											
PRPSAP1	5635	broad.mit.edu	37	17	74307765	74307765	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:74307765G>T	ENST00000446526.3	-	10	1461	c.1016C>A	c.(1015-1017)aCt>aAt	p.T339N	PRPSAP1_ENST00000324684.4_Missense_Mutation_p.T236N|PRPSAP1_ENST00000588364.1_5'UTR	NM_002766.2	NP_002757.2	Q14558	KPRA_HUMAN	phosphoribosyl pyrophosphate synthetase-associated protein 1	310					nucleotide biosynthetic process		enzyme inhibitor activity|identical protein binding|magnesium ion binding|ribose phosphate diphosphokinase activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	17						ATGAGGGACAGTATTCGTCAC	0.433													5	48					0.014758	0.0152304	1	1	0	T	74307765	G	T	74307765	3	4	81	1	0	0	0	0	1	0	0	0	12633	1029	36	4	145	4	PRPSAP1	17	74307765	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	19118	74307765	6887445	12719	16335											
PRPSAP1	5635	broad.mit.edu	37	17	74344663	74344663	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:74344663C>A	ENST00000446526.3	-	2	616		c.e2-1		PRPSAP1_ENST00000324684.4_Splice_Site	NM_002766.2	NP_002757.2	Q14558	KPRA_HUMAN	phosphoribosyl pyrophosphate synthetase-associated protein 1						nucleotide biosynthetic process		enzyme inhibitor activity|identical protein binding|magnesium ion binding|ribose phosphate diphosphokinase activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	17						ACCAAGGCGCCTATAGATCAA	0.259													3	10					0.0215528	0.0221217	1	1	0	A	74344663	C	A	74344663	5	1	81	1	0	0	0	0	0	0	1	0	12633	695	24	4	1023	4	PRPSAP1	17	74344663	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	36898	74344663	6850547	12720	16336											
UBE2O	63893	broad.mit.edu	37	17	74392626	74392626	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:74392626G>A	ENST00000319380.7	-	14	2456	c.2392C>T	c.(2392-2394)Ctg>Ttg	p.L798L		NM_022066.3	NP_071349.3	Q9C0C9	UBE2O_HUMAN	ubiquitin-conjugating enzyme E2O	798							ATP binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36						TTCTCCATCAGCCCGGCCATG	0.632													69	95					0	0	1	0	0	A	74392626	G	A	74392626	2	1	81	1	0	0	0	0	0	0	0	1	16929	962	34	2		2	UBE2O	17	74392626	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	47963	74392626	6802584	12721	16337											
UBE2O	63893	broad.mit.edu	37	17	74394562	74394562	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:74394562G>A	ENST00000319380.7	-	11	1951	c.1887C>T	c.(1885-1887)gaC>gaT	p.D629D	UBE2O_ENST00000587581.1_5'UTR	NM_022066.3	NP_071349.3	Q9C0C9	UBE2O_HUMAN	ubiquitin-conjugating enzyme E2O	629							ATP binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36						CCTCCACGTCGTCCCCACTCG	0.607											OREG0024751	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	39	67					0	0	1	0	0	A	74394562	G	A	74394562	2	1	81	1	0	0	0	0	0	0	0	1	16929	1136	40	1		1	UBE2O	17	74394562	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1936	74394562	6800648	12722	16338											
UBE2O	63893	broad.mit.edu	37	17	74395629	74395629	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:74395629G>A	ENST00000319380.7	-	9	1593	c.1529C>T	c.(1528-1530)aCg>aTg	p.T510M		NM_022066.3	NP_071349.3	Q9C0C9	UBE2O_HUMAN	ubiquitin-conjugating enzyme E2O	510							ATP binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36						TTTGCGACTCGTGCCGCTGCC	0.547													9	86					0	0	1	0	0	A	74395629	G	A	74395629	3	1	81	1	0	0	0	0	1	0	0	0	16929	1145	40	1	2389	1	UBE2O	17	74395629	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1067	74395629	6799581	12723	16339											
AANAT	15	broad.mit.edu	37	17	74465918	74465918	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:74465918C>A	ENST00000250615.3	+	7	1632	c.625C>A	c.(625-627)Ctg>Atg	p.L209M	AANAT_ENST00000392492.3_Missense_Mutation_p.L164M	NM_001166579.1	NP_001160051.1	Q16613	SNAT_HUMAN	aralkylamine N-acetyltransferase	164					circadian rhythm|melatonin biosynthetic process	cytosol	aralkylamine N-acetyltransferase activity			lung(1)	1						CGAGGACGCGCTGGTACCCTT	0.711													6	4					8.12818e-05	8.94031e-05	1	1	0	A	74465918	C	A	74465918	3	1	81	1	0	0	0	0	1	0	0	0	18	796	28	4	639	4	AANAT	17	74465918	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	70289	74465918	6729292	12724	16340											
JMJD6	23210	broad.mit.edu	37	17	74714828	74714828	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:74714828G>A	ENST00000445478.2	-	6	1398	c.1195C>T	c.(1195-1197)Cgc>Tgc	p.R399C	JMJD6_ENST00000397625.4_Missense_Mutation_p.R399C|JMJD6_ENST00000585429.1_Silent_p.S352S	NM_001081461.1	NP_001074930.1	Q6NYC1	JMJD6_HUMAN	jumonji domain containing 6	399					mRNA processing|peptidyl-lysine hydroxylation to 5-hydroxy-L-lysine|regulation of nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|RNA splicing|sprouting angiogenesis|transcription, DNA-dependent	nucleolus|nucleoplasm	histone demethylase activity (H3-R2 specific)|histone demethylase activity (H4-R3 specific)|identical protein binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptidyl-lysine 5-dioxygenase activity|single-stranded RNA binding			endometrium(2)|kidney(5)|large_intestine(2)|lung(3)|ovary(2)|skin(2)	16						GAGGAGCTGCGCTCTTTGCTG	0.642													20	28					0	0	1	0	0	A	74714828	G	A	74714828	3	1	81	1	0	0	0	0	1	0	0	0	7997	1087	38	1	61	1	JMJD6	17	74714828	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	248910	74714828	6480382	12725	16341											
MGAT5B	146664	broad.mit.edu	37	17	74868844	74868844	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:74868844G>A	ENST00000428789.2	+	1	116	c.13G>A	c.(13-15)Gta>Ata	p.V5I	MGAT5B_ENST00000301618.4_Intron|MGAT5B_ENST00000569840.2_Intron|MGAT5B_ENST00000374998.3_Intron|MGAT5B_ENST00000565675.1_Intron	NM_198955.1	NP_945193.1	Q3V5L5	MGT5B_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B	0						Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity|metal ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(15)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GCACTCATTCGTAAAACATTT	0.572													5	11					0	0	1	0	0	A	74868844	G	A	74868844	3	1	81	1	0	0	0	0	1	0	0	0	9599	1145	40	1	87	1	MGAT5B	17	74868844	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	154016	74868844	6326366	12726	16342											
SEC14L1	6397	broad.mit.edu	37	17	75196713	75196713	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:75196713C>A	ENST00000413679.2	+	9	1270	c.967C>A	c.(967-969)Ctt>Att	p.L323I	SEC14L1_ENST00000585618.1_Missense_Mutation_p.L323I|SEC14L1_ENST00000443798.4_Missense_Mutation_p.L323I|SEC14L1_ENST00000431431.2_Missense_Mutation_p.L289I|SEC14L1_ENST00000436233.4_Missense_Mutation_p.L323I|SEC14L1_ENST00000430767.4_Missense_Mutation_p.L323I|SEC14L1_ENST00000591437.1_Missense_Mutation_p.L289I|SEC14L1_ENST00000392476.2_Missense_Mutation_p.L323I	NM_001143998.1|NM_001143999.1|NM_003003.3	NP_001137470|NP_001137471|NP_002994	Q92503	S14L1_HUMAN	SEC14-like 1 (S. cerevisiae)	323	CRAL-TRIO.				transport	Golgi apparatus|integral to membrane	binding			NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(2)	31						TCCTCAGGTCCTTCAGGATTA	0.468													7	103					0.00448238	0.00470627	1	1	0	A	75196713	C	A	75196713	3	1	81	1	0	0	0	0	1	0	0	0	14035	681	24	4	993	4	SEC14L1	17	75196713	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	327869	75196713	5998497	12727	16343											
SEC14L1	6397	broad.mit.edu	37	17	75208175	75208175	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:75208175C>A	ENST00000413679.2	+	15	2058	c.1755C>A	c.(1753-1755)acC>acA	p.T585T	SEC14L1_ENST00000585618.1_Silent_p.T585T|SEC14L1_ENST00000443798.4_Silent_p.T585T|SEC14L1_ENST00000431431.2_Silent_p.T551T|SEC14L1_ENST00000436233.4_Silent_p.T585T|SEC14L1_ENST00000430767.4_Silent_p.T585T|SEC14L1_ENST00000591437.1_Silent_p.T551T|SEC14L1_ENST00000392476.2_Silent_p.T585T	NM_001143998.1|NM_001143999.1|NM_003003.3	NP_001137470|NP_001137471|NP_002994	Q92503	S14L1_HUMAN	SEC14-like 1 (S. cerevisiae)	585	GOLD.				transport	Golgi apparatus|integral to membrane	binding			NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(2)	31						ACAGCATCACCTCTCCGGGTG	0.532													101	143					3.53432e-41	4.74701e-41	1	1	0	A	75208175	C	A	75208175	2	1	81	1	0	0	0	0	0	0	0	1	14035	668	24	4		4	SEC14L1	17	75208175	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	11462	75208175	5987035	12728	16344											
SEC14L1	6397	broad.mit.edu	37	17	75208277	75208277	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:75208277C>T	ENST00000413679.2	+	15	2160	c.1857C>T	c.(1855-1857)agC>agT	p.S619S	SEC14L1_ENST00000585618.1_Silent_p.S619S|SEC14L1_ENST00000443798.4_Silent_p.S619S|SEC14L1_ENST00000431431.2_Silent_p.S585S|SEC14L1_ENST00000436233.4_Silent_p.S619S|SEC14L1_ENST00000430767.4_Silent_p.S619S|SEC14L1_ENST00000591437.1_Silent_p.S585S|SEC14L1_ENST00000392476.2_Silent_p.S619S	NM_001143998.1|NM_001143999.1|NM_003003.3	NP_001137470|NP_001137471|NP_002994	Q92503	S14L1_HUMAN	SEC14-like 1 (S. cerevisiae)	619	GOLD.				transport	Golgi apparatus|integral to membrane	binding			NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(2)	31						AAGGAGAAAGCGTGCAGGTAA	0.542													55	110					0	0	1	0	0	T	75208277	C	T	75208277	2	4	81	1	0	0	0	0	0	0	0	1	14035	767	27	1		1	SEC14L1	17	75208277	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	102	75208277	5986933	12729	16345											
SEPT9	10801	broad.mit.edu	37	17	75398611	75398611	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:75398611G>A	ENST00000329047.8	+	2	1305	c.493G>A	c.(493-495)Gca>Aca	p.A165T	SEPT9_ENST00000588690.1_Missense_Mutation_p.A19T|SEPT9_ENST00000591198.1_Missense_Mutation_p.A164T|SEPT9_ENST00000423034.2_Missense_Mutation_p.A176T|SEPT9_ENST00000592420.1_5'UTR|SEPT9_ENST00000449803.2_Missense_Mutation_p.A19T|SEPT9_ENST00000427674.2_Missense_Mutation_p.A19T|SEPT9_ENST00000590294.1_Missense_Mutation_p.A165T|SEPT9_ENST00000431235.2_Missense_Mutation_p.A19T|SEPT9_ENST00000427177.1_Missense_Mutation_p.A183T	NM_006640.4	NP_006631.2	Q9UHD8	SEPT9_HUMAN	septin 9	183					cell cycle|cell division|protein heterooligomerization	microtubule|perinuclear region of cytoplasm|stress fiber	GTP binding|GTPase activity|protein binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)	16			BRCA - Breast invasive adenocarcinoma(99;0.153)			TGCCACCGACGCAGCCCCCAA	0.677													5	3					0	0	1	0	0	A	75398611	G	A	75398611	3	1	81	1	0	0	0	0	1	0	0	0	14125	1087	38	1	642	1	SEPT9	17	75398611	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	190334	75398611	5796599	12730	16346											
TNRC6C	57690	broad.mit.edu	37	17	76045849	76045849	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:76045849G>A	ENST00000335749.4	+	3	1275	c.706G>A	c.(706-708)Gtc>Atc	p.V236I	TNRC6C_ENST00000588847.1_Missense_Mutation_p.V236I|TNRC6C_ENST00000544502.1_Missense_Mutation_p.V236I|TNRC6C_ENST00000541771.1_Missense_Mutation_p.V236I|TNRC6C_ENST00000301624.4_Missense_Mutation_p.V236I|TNRC6C_ENST00000588061.1_Missense_Mutation_p.V236I	NM_001142640.1	NP_001136112.1	Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C	236	Gly-rich.|Sufficient for interaction with argonaute family proteins.				gene silencing by RNA|regulation of translation		nucleotide binding|RNA binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			AGTTTCTCAAGTCAGTGGGGG	0.542													6	120					0	0	1	0	0	A	76045849	G	A	76045849	3	1	81	1	0	0	0	0	1	0	0	0	16402	1029	36	2	708	2	TNRC6C	17	76045849	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	647238	76045849	5149361	12731	16347											
TNRC6C	57690	broad.mit.edu	37	17	76046980	76046980	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:76046980delA	ENST00000335749.4	+	3	2406	c.1837delA	c.(1837-1839)aaafs	p.K614fs	TNRC6C_ENST00000588847.1_Frame_Shift_Del_p.K614fs|TNRC6C_ENST00000541771.1_Frame_Shift_Del_p.K614fs|TNRC6C_ENST00000301624.4_Frame_Shift_Del_p.K614fs|TNRC6C_ENST00000544502.1_Frame_Shift_Del_p.K614fs|TNRC6C_ENST00000588061.1_Frame_Shift_Del_p.K614fs	NM_001142640.1	NP_001136112.1	Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C	614	Sufficient for interaction with argonaute family proteins.				gene silencing by RNA|regulation of translation		nucleotide binding|RNA binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			GGGGGATGGGAAAAAAAATGG	0.522													8	84	---	---	---	---						-	76046980	A	-	76046980	7	5	81	1	0	1	0	1	0	0	0	0	16402	247	9	0	1839	0	TNRC6C	17	76046980	Frame_Shift_Del	DEL	A	TCGA-DU-6392-01A-11D-1705-08	1131	76046980	5148230	12732	16348											
TMC6	11322	broad.mit.edu	37	17	76117674	76117674	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:76117674G>A	ENST00000590602.1	-	11	1505	c.1346C>T	c.(1345-1347)gCc>gTc	p.A449V	TMC6_ENST00000306591.7_Intron|TMC6_ENST00000589553.1_Missense_Mutation_p.A222V|TMC6_ENST00000592076.1_Intron|TMC6_ENST00000591436.1_Missense_Mutation_p.A88V|TMC6_ENST00000322933.4_Missense_Mutation_p.A88V|TMC6_ENST00000322914.3_Missense_Mutation_p.A449V|TMC6_ENST00000392467.3_Missense_Mutation_p.A449V			Q7Z403	TMC6_HUMAN	transmembrane channel-like 6	449						endoplasmic reticulum membrane|integral to membrane				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	14			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			GACGGCCACGGCGCAGCCCAG	0.697													10	11					0	0	1	0	0	A	76117674	G	A	76117674	3	1	81	1	0	0	0	0	1	0	0	0	16049	1203	42	2	1111	2	TMC6	17	76117674	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	70694	76117674	5077536	12733	16349											
TMC8	147138	broad.mit.edu	37	17	76130984	76130984	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:76130984C>A	ENST00000318430.5	+	9	1395	c.1021C>A	c.(1021-1023)Cct>Act	p.P341T	TMC8_ENST00000589691.1_Missense_Mutation_p.P118T	NM_152468.4	NP_689681.2	Q8IU68	TMC8_HUMAN	transmembrane channel-like 8	341						endoplasmic reticulum membrane|integral to membrane				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)|OV - Ovarian serous cystadenocarcinoma(97;0.192)			GTACCTGCCCCCTGGGGTCAT	0.647													5	27					0.000602214	0.000646338	1	1	0	A	76130984	C	A	76130984	3	1	81	1	0	0	0	0	1	0	0	0	16051	623	22	5	1051	5	TMC8	17	76130984	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	13310	76130984	5064226	12734	16350											
DNAH17	8632	broad.mit.edu	37	17	76447622	76447622	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:76447622T>C	ENST00000389840.5	-	66	10745	c.10621A>G	c.(10621-10623)Agg>Ggg	p.R3541G	DNAH17_ENST00000586052.1_5'UTR|DNAH17_ENST00000585328.1_Missense_Mutation_p.R3550G					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			AGTCCATCCCTGGTGACCAGG	0.562													13	124					0	0	1	0	0	C	76447622	T	C	76447622	3	2	81	1	0	0	0	0	1	0	0	0	4629	1579	55	3	2789	3	DNAH17	17	76447622	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	316638	76447622	4747588	12735	16351											
DNAH17	8632	broad.mit.edu	37	17	76450573	76450573	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:76450573G>A	ENST00000389840.5	-	64	10467	c.10343C>T	c.(10342-10344)gCc>gTc	p.A3448V	DNAH17_ENST00000586052.1_5'UTR|DNAH17_ENST00000585328.1_Missense_Mutation_p.A3457V					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			CAGGCGGATGGCTTTCAGTTC	0.582													5	10					0	0	1	0	0	A	76450573	G	A	76450573	3	1	81	1	0	0	0	0	1	0	0	0	4629	1203	42	2	3075	2	DNAH17	17	76450573	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2951	76450573	4744637	12736	16352											
DNAH17	8632	broad.mit.edu	37	17	76455116	76455116	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:76455116T>C	ENST00000389840.5	-	61	9910	c.9786A>G	c.(9784-9786)caA>caG	p.Q3262Q	DNAH17_ENST00000586052.1_5'UTR|DNAH17_ENST00000585328.1_Silent_p.Q3271Q					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			ACAGCTTCTCTTGTGCCTCTG	0.597													4	88					0	0	1	0	0	C	76455116	T	C	76455116	2	2	81	1	0	0	0	0	0	0	0	1	4629	1606	56	3		3	DNAH17	17	76455116	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	4543	76455116	4740094	12737	16353											
DNAH17	8632	broad.mit.edu	37	17	76482147	76482147	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:76482147C>T	ENST00000389840.5	-	46	7252	c.7128G>A	c.(7126-7128)tcG>tcA	p.S2376S	RP11-559N14.5_ENST00000588565.1_RNA|RP11-559N14.5_ENST00000585969.1_RNA|DNAH17_ENST00000586052.1_5'UTR|DNAH17_ENST00000585328.1_Silent_p.S2385S					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			TCGTTCCCTGCGAGGGGAACT	0.463													26	31					0	0	1	0	0	T	76482147	C	T	76482147	2	4	81	1	0	0	0	0	0	0	0	1	4629	755	27	1		1	DNAH17	17	76482147	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	27031	76482147	4713063	12738	16354											
DNAH17	8632	broad.mit.edu	37	17	76487536	76487536	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:76487536C>A	ENST00000389840.5	-	43	6740	c.6616G>T	c.(6616-6618)Gat>Tat	p.D2206Y	RP11-559N14.5_ENST00000585969.1_RNA|DNAH17_ENST00000586052.1_5'UTR|DNAH17_ENST00000585328.1_Missense_Mutation_p.D2215Y					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			TTGTTGTCATCCATGACTGTG	0.607													6	10					0.00116845	0.00124301	1	1	0	A	76487536	C	A	76487536	3	1	81	1	0	0	0	0	1	0	0	0	4629	855	30	5	6886	5	DNAH17	17	76487536	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	5389	76487536	4707674	12739	16355											
DNAH17	8632	broad.mit.edu	37	17	76487568	76487568	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:76487568G>T	ENST00000389840.5	-	43	6708	c.6584C>A	c.(6583-6585)cCc>cAc	p.P2195H	RP11-559N14.5_ENST00000585969.1_RNA|DNAH17_ENST00000586052.1_5'UTR|DNAH17_ENST00000585328.1_Missense_Mutation_p.P2204H					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			GATCCACATGGGGTCTATGTC	0.607													8	13					0.000157383	0.000171784	1	1	0	T	76487568	G	T	76487568	3	4	81	1	0	0	0	0	1	0	0	0	4629	1232	43	5	6918	5	DNAH17	17	76487568	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	32	76487568	4707642	12740	16356											
DNAH17	8632	broad.mit.edu	37	17	76488801	76488801	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:76488801G>A	ENST00000389840.5	-	42	6537	c.6413C>T	c.(6412-6414)cCg>cTg	p.P2138L	RP11-559N14.5_ENST00000585969.1_RNA|DNAH17_ENST00000585328.1_Missense_Mutation_p.P2147L					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			CACGGCGACCGGCTTCCTCTT	0.577													8	4					0	0	1	0	0	A	76488801	G	A	76488801	3	1	81	1	0	0	0	0	1	0	0	0	4629	1116	39	1	7093	1	DNAH17	17	76488801	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1233	76488801	4706409	12741	16357											
DNAH17	8632	broad.mit.edu	37	17	76548828	76548828	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:76548828A>G	ENST00000389840.5	-	15	2362	c.2238T>C	c.(2236-2238)atT>atC	p.I746I	DNAH17_ENST00000585328.1_Silent_p.I746I					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			ACTTGACATCAATTGCTTCCA	0.423													16	183					0	0	1	0	0	G	76548828	A	G	76548828	2	3	81	1	0	0	0	0	0	0	0	1	4629	126	5	3		3	DNAH17	17	76548828	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	60027	76548828	4646382	12742	16358											
DNAH17	8632	broad.mit.edu	37	17	76554290	76554290	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:76554290T>C	ENST00000389840.5	-	14	2202	c.2078A>G	c.(2077-2079)cAg>cGg	p.Q693R	DNAH17_ENST00000585328.1_Missense_Mutation_p.Q693R					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			AATCTCTTTCTGTTGCTGGAA	0.453													13	11					0	0	1	0	0	C	76554290	T	C	76554290	3	2	81	1	0	0	0	0	1	0	0	0	4629	1580	55	3	11582	3	DNAH17	17	76554290	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	5462	76554290	4640920	12743	16359											
USP36	57602	broad.mit.edu	37	17	76825052	76825052	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:76825052C>A	ENST00000542802.3	-	5	956	c.513G>T	c.(511-513)caG>caT	p.Q171H	USP36_ENST00000590546.2_Missense_Mutation_p.Q171H|USP36_ENST00000312010.6_Missense_Mutation_p.Q171H|USP36_ENST00000589424.1_Missense_Mutation_p.Q171H			Q9P275	UBP36_HUMAN	ubiquitin specific peptidase 36						ubiquitin-dependent protein catabolic process	nucleolus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	34			BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151)			CAATGTGGTTCTGCATGACAC	0.512													27	23					3.73148e-12	4.65439e-12	1	1	0	A	76825052	C	A	76825052	3	1	81	1	0	0	0	0	1	0	0	0	17127	912	32	4	2922	4	USP36	17	76825052	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	270762	76825052	4370158	12744	16360											
LGALS3BP	3959	broad.mit.edu	37	17	76967788	76967788	+	Missense_Mutation	SNP	G	G	A	rs150793355		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:76967788G>A	ENST00000262776.3	-	6	1936	c.1628C>T	c.(1627-1629)gCg>gTg	p.A543V	LGALS3BP_ENST00000591778.1_3'UTR	NM_005567.3	NP_005558.1	Q08380	LG3BP_HUMAN	lectin, galactoside-binding, soluble, 3 binding protein	543					cell adhesion|cellular defense response	extracellular space|membrane|proteinaceous extracellular matrix	protein binding|scavenger receptor activity			NS(1)|breast(1)|central_nervous_system(5)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(99;0.0677)|OV - Ovarian serous cystadenocarcinoma(97;0.139)			ACTGGGAATCGCAGCCTTCCA	0.622											OREG0024787	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	22	28					0	0	1	0	0	A	76967788	G	A	76967788	3	1	81	1	0	0	0	0	1	0	0	0	8783	1087	38	1	133	1	LGALS3BP	17	76967788	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	142736	76967788	4227422	12745	16361											
LGALS3BP	3959	broad.mit.edu	37	17	76968416	76968416	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:76968416C>T	ENST00000262776.3	-	6	1308	c.1000G>A	c.(1000-1002)Gcc>Acc	p.A334T	LGALS3BP_ENST00000591778.1_3'UTR	NM_005567.3	NP_005558.1	Q08380	LG3BP_HUMAN	lectin, galactoside-binding, soluble, 3 binding protein	334	BACK.				cell adhesion|cellular defense response	extracellular space|membrane|proteinaceous extracellular matrix	protein binding|scavenger receptor activity			NS(1)|breast(1)|central_nervous_system(5)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(99;0.0677)|OV - Ovarian serous cystadenocarcinoma(97;0.139)			TCATGGGAGGCACGCTCCCCC	0.637													5	54					0	0	1	0	0	T	76968416	C	T	76968416	3	4	81	1	0	0	0	0	1	0	0	0	8783	710	25	2	761	2	LGALS3BP	17	76968416	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	628	76968416	4226794	12746	16362											
CANT1	124583	broad.mit.edu	37	17	76989898	76989898	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:76989898G>A	ENST00000302345.2	-	4	1434	c.940C>T	c.(940-942)Cgc>Tgc	p.R314C	CANT1_ENST00000591773.1_Missense_Mutation_p.R314C|CANT1_ENST00000392446.5_Missense_Mutation_p.R314C	NM_001159773.1|NM_138793.3	NP_001153245.1|NP_620148.1	Q8WVQ1	CANT1_HUMAN	calcium activated nucleotidase 1	314					positive regulation of I-kappaB kinase/NF-kappaB cascade	endoplasmic reticulum membrane|Golgi cisterna membrane|integral to membrane	calcium ion binding|nucleoside-diphosphatase activity|signal transducer activity		CANT1/ETV4(3)	cervix(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)	16			BRCA - Breast invasive adenocarcinoma(99;0.0362)|OV - Ovarian serous cystadenocarcinoma(97;0.139)			GCGCCCTTGCGCTCGTCGTCC	0.672			T	ETV4	prostate								12	11					0	0	1	0	0	A	76989898	G	A	76989898	3	1	81	1	0	0	0	0	1	0	0	0	2635	1087	38	1	269	1	CANT1	17	76989898	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	21482	76989898	4205312	12747	16363											
ENGASE	64772	broad.mit.edu	37	17	77080732	77080732	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:77080732G>A	ENST00000579016.1	+	11	1555	c.1555G>A	c.(1555-1557)Ggc>Agc	p.G519S		NM_001042573.2	NP_001036038.1	Q8NFI3	ENASE_HUMAN	endo-beta-N-acetylglucosaminidase	519						cytosol	mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity			breast(2)|endometrium(4)|large_intestine(1)|lung(15)|prostate(2)|skin(1)	25						AGGGGATGCCGGCAGCTGCCA	0.612													34	46					0	0	1	0	0	A	77080732	G	A	77080732	3	1	81	1	0	0	0	0	1	0	0	0	5146	1116	39	1	1597	1	ENGASE	17	77080732	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	90834	77080732	4114478	12748	16364											
ENGASE	64772	broad.mit.edu	37	17	77082252	77082252	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:77082252A>G	ENST00000579016.1	+	14	2053	c.2053A>G	c.(2053-2055)Atg>Gtg	p.M685V		NM_001042573.2	NP_001036038.1	Q8NFI3	ENASE_HUMAN	endo-beta-N-acetylglucosaminidase	685						cytosol	mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity			breast(2)|endometrium(4)|large_intestine(1)|lung(15)|prostate(2)|skin(1)	25						AGAGATGCCCATGTTCCTGGG	0.617													22	35					0	0	1	0	0	G	77082252	A	G	77082252	3	3	81	1	0	0	0	0	1	0	0	0	5146	217	8	3	2107	3	ENGASE	17	77082252	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	1520	77082252	4112958	12749	16365											
ENPP7	339221	broad.mit.edu	37	17	77709177	77709177	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:77709177C>T	ENST00000328313.5	+	3	956	c.735C>T	c.(733-735)tcC>tcT	p.S245S		NM_178543.3	NP_848638.3	Q6UWV6	ENPP7_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 7	245					negative regulation of cell proliferation|negative regulation of DNA replication|sphingomyelin metabolic process	Golgi apparatus|integral to membrane|microvillus	sphingomyelin phosphodiesterase activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(6)|skin(3)	34			OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			TCATCACATCCGACCACGGCA	0.617													22	37					0	0	1	0	0	T	77709177	C	T	77709177	2	4	81	1	0	0	0	0	0	0	0	1	5163	639	23	1		1	ENPP7	17	77709177	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	626925	77709177	3486033	12750	16366											
CBX2	84733	broad.mit.edu	37	17	77758262	77758262	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:77758262C>T	ENST00000310942.4	+	5	1124	c.1020C>T	c.(1018-1020)tgC>tgT	p.C340C		NM_005189.2	NP_005180.1	Q14781	CBX2_HUMAN	chromobox homolog 2	340					cell differentiation|chromatin modification|development of primary sexual characteristics|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	PcG protein complex	DNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)	16			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			CTGCTGGGTGCCCAGGCCCCC	0.682													5	12					0	0	1	0	0	T	77758262	C	T	77758262	2	4	81	1	0	0	0	0	0	0	0	1	2736	747	26	2		2	CBX2	17	77758262	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	49085	77758262	3436948	12751	16367											
CBX4	8535	broad.mit.edu	37	17	77808427	77808427	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:77808427C>T	ENST00000269397.4	-	5	1191	c.1014G>A	c.(1012-1014)ccG>ccA	p.P338P		NM_003655.2	NP_003646.2	O00257	CBX4_HUMAN	chromobox homolog 4	338	Interaction with BMI1.				anti-apoptosis|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|PcG protein complex	enzyme binding|transcription corepressor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			CCTGGGGCTGCGGATCGCTAA	0.667											OREG0024799	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	16					0	0	1	0	0	T	77808427	C	T	77808427	2	4	81	1	0	0	0	0	0	0	0	1	2738	755	27	1		1	CBX4	17	77808427	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	50165	77808427	3386783	12752	16368			1	2		6	6	683	N	T_G_C	2.912872e-05
CBX4	8535	broad.mit.edu	37	17	77808500	77808500	+	Missense_Mutation	SNP	G	G	A	rs140935310	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:77808500G>A	ENST00000269397.4	-	5	1118	c.941C>T	c.(940-942)gCg>gTg	p.A314V		NM_003655.2	NP_003646.2	O00257	CBX4_HUMAN	chromobox homolog 4	314	Interaction with BMI1.				anti-apoptosis|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|PcG protein complex	enzyme binding|transcription corepressor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			CTCTGCGCCCGCCGCCTTTTT	0.692											OREG0024799	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	22	19					0	0	1	0	0	A	77808500	G	A	77808500	3	1	81	1	0	0	0	0	1	0	0	0	2738	1087	38	1	745	1	CBX4	17	77808500	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	73	77808500	3386710	12753	16369			1	2		6	6	683	N	T_G_C	2.912872e-05
CBX4	8535	broad.mit.edu	37	17	77808613	77808613	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:77808613C>T	ENST00000269397.4	-	5	1005	c.828G>A	c.(826-828)gcG>gcA	p.A276A		NM_003655.2	NP_003646.2	O00257	CBX4_HUMAN	chromobox homolog 4	276	Interaction with BMI1.				anti-apoptosis|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|PcG protein complex	enzyme binding|transcription corepressor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			TGATCTTCACCGCCTGCATGC	0.592											OREG0024799	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	66	95					0	0	1	0	0	T	77808613	C	T	77808613	2	4	81	1	0	0	0	0	0	0	0	1	2738	639	23	1		1	CBX4	17	77808613	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	113	77808613	3386597	12754	16370			1	2		6	6	683	N	T_G_C	2.912872e-05
CBX4	8535	broad.mit.edu	37	17	77808831	77808831	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:77808831C>T	ENST00000269397.4	-	5	787	c.610G>A	c.(610-612)Gcc>Acc	p.A204T		NM_003655.2	NP_003646.2	O00257	CBX4_HUMAN	chromobox homolog 4	204	Interaction with BMI1.				anti-apoptosis|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|PcG protein complex	enzyme binding|transcription corepressor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			TAGCCTTTGGCCCCCGCACCT	0.736											OREG0024799	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	28					0	0	1	0	0	T	77808831	C	T	77808831	3	4	81	1	0	0	0	0	1	0	0	0	2738	739	26	2	1076	2	CBX4	17	77808831	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	218	77808831	3386379	12755	16371			1	2		6	6	683	N	T_G_C	2.912872e-05
CBX4	8535	broad.mit.edu	37	17	77808854	77808854	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:77808854T>C	ENST00000269397.4	-	5	764	c.587A>G	c.(586-588)gAc>gGc	p.D196G	CBX4_ENST00000448310.1_3'UTR	NM_003655.2	NP_003646.2	O00257	CBX4_HUMAN	chromobox homolog 4	196	Interaction with BMI1.				anti-apoptosis|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|PcG protein complex	enzyme binding|transcription corepressor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			CGCCCACTTGTCGGGCGGGTG	0.721											OREG0024799	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	20	28					0	0	1	0	0	C	77808854	T	C	77808854	3	2	81	1	0	0	0	0	1	0	0	0	2738	1667	58	3	1099	3	CBX4	17	77808854	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	23	77808854	3386356	12756	16372			1	2		6	6	683	N	T_G_C	2.912872e-05
CBX4	8535	broad.mit.edu	37	17	77809109	77809109	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:77809109G>A	ENST00000269397.4	-	5	509	c.332C>T	c.(331-333)gCg>gTg	p.A111V	CBX4_ENST00000448310.1_3'UTR	NM_003655.2	NP_003646.2	O00257	CBX4_HUMAN	chromobox homolog 4	111	Interaction with BMI1.				anti-apoptosis|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|PcG protein complex	enzyme binding|transcription corepressor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			CTTCCCCTGCGCGCCCAAATC	0.657											OREG0024799	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	21	30					0	0	1	0	0	A	77809109	G	A	77809109	3	1	81	1	0	0	0	0	1	0	0	0	2738	1087	38	1	1354	1	CBX4	17	77809109	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	255	77809109	3386101	12757	16373			1	2		6	6	683	N	T_G_C	2.912872e-05
TBC1D16	125058	broad.mit.edu	37	17	77921465	77921465	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:77921465G>A	ENST00000310924.2	-	9	1822	c.1707C>T	c.(1705-1707)gaC>gaT	p.D569D	TBC1D16_ENST00000570373.1_Silent_p.D208D|TBC1D16_ENST00000572862.1_Silent_p.D207D|TBC1D16_ENST00000576768.1_Silent_p.D194D|TBC1D16_ENST00000340848.7_Silent_p.D207D	NM_001271844.1|NM_001271845.1|NM_019020.2	NP_001258773.1|NP_001258774.1|NP_061893.2	Q8TBP0	TBC16_HUMAN	TBC1 domain family, member 16	569	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(3)	28	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.00739)|BRCA - Breast invasive adenocarcinoma(99;0.0819)			CCATGTCCTCGTCCCGGGGTG	0.607													14	30					0	0	1	0	0	A	77921465	G	A	77921465	2	1	81	1	0	0	0	0	0	0	0	1	15662	1136	40	1		1	TBC1D16	17	77921465	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	112356	77921465	3273745	12758	16374											
CCDC40	55036	broad.mit.edu	37	17	78011930	78011930	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:78011930C>A	ENST00000397545.4	+	2	65	c.38C>A	c.(37-39)cCg>cAg	p.P13Q	CCDC40_ENST00000374876.4_Missense_Mutation_p.P13Q|CCDC40_ENST00000269318.5_Missense_Mutation_p.P13Q|CCDC40_ENST00000374877.3_Missense_Mutation_p.P13Q	NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	13					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			AGGTCCCATCCGGAAGATGGA	0.423													4	15					0.00909568	0.00944708	1	1	0	A	78011930	C	A	78011930	3	1	81	1	0	0	0	0	1	0	0	0	2831	652	23	5	44	5	CCDC40	17	78011930	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	90465	78011930	3183280	12759	16375											
CCDC40	55036	broad.mit.edu	37	17	78022390	78022390	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:78022390C>A	ENST00000397545.4	+	5	712	c.685C>A	c.(685-687)Cca>Aca	p.P229T	CCDC40_ENST00000374876.4_Missense_Mutation_p.P229T|CCDC40_ENST00000269318.5_Missense_Mutation_p.P229T|CCDC40_ENST00000374877.3_Missense_Mutation_p.P229T	NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	229					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			AGTGATCCCCCCAGGGGTGCC	0.617													5	18					1.23904e-05	1.39156e-05	1	1	0	A	78022390	C	A	78022390	3	1	81	1	0	0	0	0	1	0	0	0	2831	623	22	5	703	5	CCDC40	17	78022390	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	10460	78022390	3172820	12760	16376											
CCDC40	55036	broad.mit.edu	37	17	78023713	78023713	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:78023713G>T	ENST00000397545.4	+	6	891	c.864G>T	c.(862-864)atG>atT	p.M288I	CCDC40_ENST00000374876.4_Missense_Mutation_p.M288I|CCDC40_ENST00000269318.5_Missense_Mutation_p.M288I|CCDC40_ENST00000374877.3_Missense_Mutation_p.M288I	NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	288					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			AGCCCCTGATGGTAAGATTCC	0.567													3	25					0.004672	0.00489345	1	1	0	T	78023713	G	T	78023713	3	4	81	1	0	0	0	0	1	0	0	0	2831	1348	47	5	886	5	CCDC40	17	78023713	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1323	78023713	3171497	12761	16377											
CCDC40	55036	broad.mit.edu	37	17	78023947	78023947	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:78023947C>T	ENST00000397545.4	+	7	1051	c.1024C>T	c.(1024-1026)Cag>Tag	p.Q342*	CCDC40_ENST00000374876.4_Nonsense_Mutation_p.Q342*|CCDC40_ENST00000269318.5_Nonsense_Mutation_p.Q342*|CCDC40_ENST00000374877.3_Nonsense_Mutation_p.Q342*	NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	342					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			GGTACACCTGCAGAAGCTGCT	0.627													10	14					0	0	1	0	0	T	78023947	C	T	78023947	4	4	81	1	0	0	0	0	0	1	0	0	2831	711	25	2	1050	2	CCDC40	17	78023947	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	234	78023947	3171263	12762	16378											
CCDC40	55036	broad.mit.edu	37	17	78073542	78073542	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:78073542G>A	ENST00000397545.4	+	20	3424	c.3397G>A	c.(3397-3399)Gcc>Acc	p.A1133T		NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	1133					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			CCAGATGATCGCCAACAAGCT	0.617													7	17					0	0	1	0	0	A	78073542	G	A	78073542	3	1	81	1	0	0	0	0	1	0	0	0	2831	1087	38	1	3475	1	CCDC40	17	78073542	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	49595	78073542	3121668	12763	16379											
GAA	2548	broad.mit.edu	37	17	78078631	78078631	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:78078631C>T	ENST00000302262.3	+	2	465	c.246C>T	c.(244-246)tgC>tgT	p.C82C	GAA_ENST00000390015.3_Silent_p.C82C	NM_000152.3	NP_000143.2	P10253	LYAG_HUMAN	glucosidase, alpha; acid	82	P-type.				cardiac muscle contraction|diaphragm contraction|glycogen catabolic process|lysosome organization|tongue morphogenesis|vacuolar sequestering|ventricular cardiac muscle tissue morphogenesis	lysosomal membrane	carbohydrate binding|maltose alpha-glucosidase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		Acarbose(DB00284)	CCACACAGTGCGACGTCCCCC	0.677													6	9					0	0	1	0	0	T	78078631	C	T	78078631	2	4	81	1	0	0	0	0	0	0	0	1	6182	776	27	1		1	GAA	17	78078631	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	5089	78078631	3116579	12764	16380											
GAA	2548	broad.mit.edu	37	17	78079616	78079616	+	Silent	SNP	G	G	A	rs141427808		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:78079616G>A	ENST00000302262.3	+	3	834	c.615G>A	c.(613-615)ccG>ccA	p.P205P	GAA_ENST00000390015.3_Silent_p.P205P	NM_000152.3	NP_000143.2	P10253	LYAG_HUMAN	glucosidase, alpha; acid	205					cardiac muscle contraction|diaphragm contraction|glycogen catabolic process|lysosome organization|tongue morphogenesis|vacuolar sequestering|ventricular cardiac muscle tissue morphogenesis	lysosomal membrane	carbohydrate binding|maltose alpha-glucosidase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		Acarbose(DB00284)	GCCGGGCACCGTCCCCACTCT	0.622													6	49					0	0	1	0	0	A	78079616	G	A	78079616	2	1	81	1	0	0	0	0	0	0	0	1	6182	1132	40	1		1	GAA	17	78079616	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	985	78079616	3115594	12765	16381											
GAA	2548	broad.mit.edu	37	17	78083763	78083763	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:78083763C>T	ENST00000302262.3	+	9	1565	c.1346C>T	c.(1345-1347)tCg>tTg	p.S449L	GAA_ENST00000390015.3_Missense_Mutation_p.S449L	NM_000152.3	NP_000143.2	P10253	LYAG_HUMAN	glucosidase, alpha; acid	449					cardiac muscle contraction|diaphragm contraction|glycogen catabolic process|lysosome organization|tongue morphogenesis|vacuolar sequestering|ventricular cardiac muscle tissue morphogenesis	lysosomal membrane	carbohydrate binding|maltose alpha-glucosidase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		Acarbose(DB00284)	ATCAGCAGCTCGGGCCCTGCC	0.647													28	44					0	0	1	0	0	T	78083763	C	T	78083763	3	4	81	1	0	0	0	0	1	0	0	0	6182	893	31	1	1376	1	GAA	17	78083763	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	4147	78083763	3111447	12766	16382											
GAA	2548	broad.mit.edu	37	17	78085806	78085806	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:78085806C>T	ENST00000302262.3	+	12	1880	c.1661C>T	c.(1660-1662)gCg>gTg	p.A554V	GAA_ENST00000390015.3_Missense_Mutation_p.A554V	NM_000152.3	NP_000143.2	P10253	LYAG_HUMAN	glucosidase, alpha; acid	554					cardiac muscle contraction|diaphragm contraction|glycogen catabolic process|lysosome organization|tongue morphogenesis|vacuolar sequestering|ventricular cardiac muscle tissue morphogenesis	lysosomal membrane	carbohydrate binding|maltose alpha-glucosidase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		Acarbose(DB00284)	ACCCTCCAGGCGGCCACCATC	0.667													10	20					0	0	1	0	0	T	78085806	C	T	78085806	3	4	81	1	0	0	0	0	1	0	0	0	6182	768	27	1	1703	1	GAA	17	78085806	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2043	78085806	3109404	12767	16383											
GAA	2548	broad.mit.edu	37	17	78090861	78090861	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:78090861G>A	ENST00000302262.3	+	16	2503	c.2284G>A	c.(2284-2286)Gaa>Aaa	p.E762K	GAA_ENST00000390015.3_Missense_Mutation_p.E762K	NM_000152.3	NP_000143.2	P10253	LYAG_HUMAN	glucosidase, alpha; acid	762					cardiac muscle contraction|diaphragm contraction|glycogen catabolic process|lysosome organization|tongue morphogenesis|vacuolar sequestering|ventricular cardiac muscle tissue morphogenesis	lysosomal membrane	carbohydrate binding|maltose alpha-glucosidase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		Acarbose(DB00284)	CGGGAAGGCCGAAGTGACTGG	0.647													6	18					0	0	1	0	0	A	78090861	G	A	78090861	3	1	81	1	0	0	0	0	1	0	0	0	6182	1059	37	1	2342	1	GAA	17	78090861	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	5055	78090861	3104349	12768	16384											
GAA	2548	broad.mit.edu	37	17	78092019	78092019	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:78092019C>T	ENST00000302262.3	+	18	2728	c.2509C>T	c.(2509-2511)Cgc>Tgc	p.R837C	GAA_ENST00000390015.3_Missense_Mutation_p.R837C	NM_000152.3	NP_000143.2	P10253	LYAG_HUMAN	glucosidase, alpha; acid	837					cardiac muscle contraction|diaphragm contraction|glycogen catabolic process|lysosome organization|tongue morphogenesis|vacuolar sequestering|ventricular cardiac muscle tissue morphogenesis	lysosomal membrane	carbohydrate binding|maltose alpha-glucosidase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		Acarbose(DB00284)	CACAGAGTCCCGCCAGCAGCC	0.667													18	42					0	0	1	0	0	T	78092019	C	T	78092019	3	4	81	1	0	0	0	0	1	0	0	0	6182	652	23	1	2575	1	GAA	17	78092019	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1158	78092019	3103191	12769	16385											
GAA	2548	broad.mit.edu	37	17	78092152	78092152	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:78092152G>T	ENST00000302262.3	+	18	2861	c.2642G>T	c.(2641-2643)aGg>aTg	p.R881M	GAA_ENST00000390015.3_Missense_Mutation_p.R881M	NM_000152.3	NP_000143.2	P10253	LYAG_HUMAN	glucosidase, alpha; acid	881					cardiac muscle contraction|diaphragm contraction|glycogen catabolic process|lysosome organization|tongue morphogenesis|vacuolar sequestering|ventricular cardiac muscle tissue morphogenesis	lysosomal membrane	carbohydrate binding|maltose alpha-glucosidase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		Acarbose(DB00284)	TTCCTGGCCAGGAATGTGAGT	0.667													6	51					0.00116845	0.00124301	1	1	0	T	78092152	G	T	78092152	3	4	81	1	0	0	0	0	1	0	0	0	6182	1000	35	4	2708	4	GAA	17	78092152	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	133	78092152	3103058	12770	16386											
EIF4A3	9775	broad.mit.edu	37	17	78109893	78109893	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:78109893C>T	ENST00000269349.3	-	11	1350	c.1129G>A	c.(1129-1131)Gcc>Acc	p.A377T		NM_014740.3	NP_055555.1	P38919	IF4A3_HUMAN	eukaryotic translation initiation factor 4A3	377	Helicase C-terminal.				mRNA transport|negative regulation of translation|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation|rRNA processing	catalytic step 2 spliceosome|cytoplasm|exon-exon junction complex|nuclear speck	ATP binding|ATP-dependent RNA helicase activity|poly(A) RNA binding|protein binding	p.A377P(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	10	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)			AAGTTAATGGCCACACCCTTC	0.393													33	42					0	0	1	0	0	T	78109893	C	T	78109893	3	4	81	1	0	0	0	0	1	0	0	0	5054	739	26	2	114	2	EIF4A3	17	78109893	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	17741	78109893	3085317	12771	16387											
CARD14	79092	broad.mit.edu	37	17	78163620	78163620	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:78163620C>T	ENST00000573882.1	+	8	1448	c.912C>T	c.(910-912)cgC>cgT	p.R304R	CARD14_ENST00000392434.2_Silent_p.R67R|CARD14_ENST00000570421.1_Silent_p.R304R|CARD14_ENST00000573754.1_3'UTR|CARD14_ENST00000344227.2_Silent_p.R304R			Q9BXL6	CAR14_HUMAN	caspase recruitment domain family, member 14	304					activation of NF-kappaB-inducing kinase activity|positive regulation of protein phosphorylation|regulation of apoptosis	aggresome|cytoplasm|plasma membrane	CARD domain binding			NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(5)|prostate(1)|skin(1)	23	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.017)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			TGGTGGAGCGCATCCACTCGC	0.682													9	19					0	0	1	0	0	T	78163620	C	T	78163620	2	4	81	1	0	0	0	0	0	0	0	1	2664	697	25	2		2	CARD14	17	78163620	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	53727	78163620	3031590	12772	16388											
RNF213	57674	broad.mit.edu	37	17	78237505	78237505	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:78237505G>A	ENST00000582970.1	+	2	168	c.25G>A	c.(25-27)Gtc>Atc	p.V9I	RNF213_ENST00000456466.1_Missense_Mutation_p.V9I|RNF213_ENST00000508628.2_Missense_Mutation_p.V9I|RNF213_ENST00000319921.4_Missense_Mutation_p.V9I	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	9										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			GTGCCAGCATGTCTCCAAGGA	0.612													31	46					0	0	1	0	0	A	78237505	G	A	78237505	3	1	81	1	0	0	0	0	1	0	0	0	13529	1377	48	2	27	2	RNF213	17	78237505	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	73885	78237505	2957705	12773	16389											
RNF213	57674	broad.mit.edu	37	17	78272171	78272171	+	Missense_Mutation	SNP	C	C	T	rs139456294	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:78272171C>T	ENST00000582970.1	+	11	2206	c.2063C>T	c.(2062-2064)aCg>aTg	p.T688M	RNF213_ENST00000456466.1_Missense_Mutation_p.T688M|RNF213_ENST00000508628.2_Missense_Mutation_p.T737M|RNF213_ENST00000319921.4_Missense_Mutation_p.T688M	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	688										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			GACACAAGGACGTACACCTGG	0.622													14	18					0	0	1	0	0	T	78272171	C	T	78272171	3	4	81	1	0	0	0	0	1	0	0	0	13529	536	19	1	2252	1	RNF213	17	78272171	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	34666	78272171	2923039	12774	16390											
RNF213	57674	broad.mit.edu	37	17	78314123	78314123	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:78314123G>C	ENST00000582970.1	+	26	6099	c.5956G>C	c.(5956-5958)Gtt>Ctt	p.V1986L	RNF213_ENST00000508628.2_Missense_Mutation_p.V2035L|RNF213_ENST00000336301.6_Missense_Mutation_p.V59L	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	0										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			CCGGCTGTGTGTTGGGATCGT	0.687													8	17					0	0	1	0	0	C	78314123	G	C	78314123	3	2	81	1	0	0	0	0	1	0	0	0	13529	1377	48	5	6373	5	RNF213	17	78314123	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	41952	78314123	2881087	12775	16391											
RNF213	57674	broad.mit.edu	37	17	78317077	78317077	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:78317077G>A	ENST00000582970.1	+	27	6278	c.6135G>A	c.(6133-6135)gcG>gcA	p.A2045A	RNF213_ENST00000508628.2_Silent_p.A2094A|RNF213_ENST00000336301.6_Silent_p.A118A	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	0										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			TCCTGGATGCGCAGTATCAGA	0.562													12	10					0	0	1	0	0	A	78317077	G	A	78317077	2	1	81	1	0	0	0	0	0	0	0	1	13529	1074	38	1		1	RNF213	17	78317077	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2954	78317077	2878133	12776	16392											
RNF213	57674	broad.mit.edu	37	17	78319744	78319744	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:78319744C>T	ENST00000582970.1	+	29	7752	c.7609C>T	c.(7609-7611)Cgt>Tgt	p.R2537C	RNF213_ENST00000508628.2_Missense_Mutation_p.R2586C|RNF213_ENST00000336301.6_Missense_Mutation_p.R610C	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	0										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			GATGATCTGCCGTTTGGAGTC	0.562													20	42					0	0	1	0	0	T	78319744	C	T	78319744	3	4	81	1	0	0	0	0	1	0	0	0	13529	652	23	1	8038	1	RNF213	17	78319744	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2667	78319744	2875466	12777	16393											
RNF213	57674	broad.mit.edu	37	17	78321958	78321958	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:78321958C>A	ENST00000582970.1	+	29	9966	c.9823C>A	c.(9823-9825)Ctg>Atg	p.L3275M	RNF213_ENST00000508628.2_Missense_Mutation_p.L3324M|RNF213_ENST00000336301.6_Missense_Mutation_p.L1348M	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	0										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			CGCCTACTCGCTGGGCGGGTT	0.597													6	42					0.000157383	0.000171784	1	1	0	A	78321958	C	A	78321958	3	1	81	1	0	0	0	0	1	0	0	0	13529	796	28	4	10252	4	RNF213	17	78321958	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2214	78321958	2873252	12778	16394											
RNF213	57674	broad.mit.edu	37	17	78327925	78327925	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:78327925T>C	ENST00000582970.1	+	35	10828	c.10685T>C	c.(10684-10686)gTg>gCg	p.V3562A	CTD-2047H16.4_ENST00000575034.1_RNA|RNF213_ENST00000508628.2_Missense_Mutation_p.V3611A|RNF213_ENST00000336301.6_Missense_Mutation_p.V1635A	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	0										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			CGGAGGGTGGTGCTCCTCCTG	0.637													6	44					0	0	1	0	0	C	78327925	T	C	78327925	3	2	81	1	0	0	0	0	1	0	0	0	13529	1696	59	3	11138	3	RNF213	17	78327925	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	5967	78327925	2867285	12779	16395											
NPTX1	4884	broad.mit.edu	37	17	78444684	78444684	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:78444684C>T	ENST00000306773.4	-	5	1385	c.1228G>A	c.(1228-1230)Gct>Act	p.A410T		NM_002522.3	NP_002513.2	Q15818	NPTX1_HUMAN	neuronal pentraxin I	410	Pentaxin.				central nervous system development|synaptic transmission|transport	transport vesicle	metal ion binding			kidney(1)|large_intestine(2)|liver(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)	11	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0487)			TGGGATTCAGCCCAGGCGATG	0.647													15	45					0	0	1	0	0	T	78444684	C	T	78444684	3	4	81	1	0	0	0	0	1	0	0	0	10650	739	26	2	74	2	NPTX1	17	78444684	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	116759	78444684	2750526	12780	16396											
NPTX1	4884	broad.mit.edu	37	17	78445556	78445556	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:78445556G>A	ENST00000306773.4	-	4	1210	c.1053C>T	c.(1051-1053)ggC>ggT	p.G351G		NM_002522.3	NP_002513.2	Q15818	NPTX1_HUMAN	neuronal pentraxin I	351	Pentaxin.				central nervous system development|synaptic transmission|transport	transport vesicle	metal ion binding			kidney(1)|large_intestine(2)|liver(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)	11	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0487)			GCACCAGCACGCCCTGGGGCT	0.657													5	14					0	0	1	0	0	A	78445556	G	A	78445556	2	1	81	1	0	0	0	0	0	0	0	1	10650	1074	38	1		1	NPTX1	17	78445556	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	872	78445556	2749654	12781	16397											
RPTOR	57521	broad.mit.edu	37	17	78866640	78866640	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:78866640C>A	ENST00000306801.3	+	19	2575	c.2213C>A	c.(2212-2214)tCt>tAt	p.S738Y	RPTOR_ENST00000575542.1_3'UTR|RPTOR_ENST00000544334.2_Missense_Mutation_p.S580Y	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN	regulatory associated protein of MTOR, complex 1	738					cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of protein serine/threonine kinase activity|positive regulation of TOR signaling cascade|TOR signaling cascade	cytosol|lysosome|TORC1 complex	protein complex binding	p.S738Y(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						CTCAACAAATCTTTGCAGAAC	0.498													5	68					5.9392e-07	6.87481e-07	1	1	0	A	78866640	C	A	78866640	3	1	81	1	0	0	0	0	1	0	0	0	13717	913	32	4	2287	4	RPTOR	17	78866640	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	421084	78866640	2328570	12782	16398	79	2									
RPTOR	57521	broad.mit.edu	37	17	78866649	78866649	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:78866649A>G	ENST00000306801.3	+	19	2584	c.2222A>G	c.(2221-2223)aAc>aGc	p.N741S	RPTOR_ENST00000575542.1_3'UTR|RPTOR_ENST00000544334.2_Missense_Mutation_p.N583S	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN	regulatory associated protein of MTOR, complex 1	741					cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of protein serine/threonine kinase activity|positive regulation of TOR signaling cascade|TOR signaling cascade	cytosol|lysosome|TORC1 complex	protein complex binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						TCTTTGCAGAACCTGAGTTTG	0.498													37	40					0	0	1	0	0	G	78866649	A	G	78866649	3	3	81	1	0	0	0	0	1	0	0	0	13717	43	2	3	2296	3	RPTOR	17	78866649	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	9	78866649	2328561	12783	16399	79	2									
CHMP6	79643	broad.mit.edu	37	17	78971129	78971129	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:78971129C>T	ENST00000325167.5	+	6	561	c.483C>T	c.(481-483)agC>agT	p.S161S		NM_024591.4	NP_078867.2	Q96FZ7	CHMP6_HUMAN	charged multivesicular body protein 6	161					cellular membrane organization|endosome transport|protein transport	cytosol|endomembrane system|late endosome membrane	protein N-terminus binding			lung(2)|ovary(1)	3	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0175)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			AGGAGCTGAGCGCAATCACTC	0.627													13	4					0	0	1	0	0	T	78971129	C	T	78971129	2	4	81	1	0	0	0	0	0	0	0	1	3382	767	27	1		1	CHMP6	17	78971129	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	104480	78971129	2224081	12784	16400											
BAIAP2	10458	broad.mit.edu	37	17	79077707	79077707	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:79077707C>T	ENST00000321300.6	+	9	958	c.865C>T	c.(865-867)Cgg>Tgg	p.R289W	BAIAP2_ENST00000575245.1_Splice_Site_p.R322W|BAIAP2_ENST00000392411.3_Splice_Site_p.R211W|BAIAP2_ENST00000416299.2_Splice_Site_p.R152W|BAIAP2_ENST00000428708.2_Splice_Site_p.R289W|BAIAP2_ENST00000321280.7_Splice_Site_p.R289W|BAIAP2_ENST00000435091.3_Splice_Site_p.R289W|BAIAP2_ENST00000575712.1_Splice_Site_p.R289W	NM_001144888.1|NM_017451.2	NP_001138360.1|NP_059345.1	Q9UQB8	BAIP2_HUMAN	BAI1-associated protein 2	289					axonogenesis|filopodium assembly|insulin receptor signaling pathway|regulation of actin cytoskeleton organization|response to bacterium	cell junction|cytoskeleton|cytosol|filopodium|nucleus|ruffle	cytoskeletal adaptor activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)	18	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			TTCCCTGCAGCGGATGTCTGC	0.677													23	42					0	0	1	0	0	T	79077707	C	T	79077707	5	4	81	1	0	0	0	0	0	0	1	0	1299	782	27	1	899	1	BAIAP2	17	79077707	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	106578	79077707	2117503	12785	16401											
BAIAP2	10458	broad.mit.edu	37	17	79080582	79080582	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:79080582C>A	ENST00000321300.6	+	12	1468	c.1375C>A	c.(1375-1377)Ctg>Atg	p.L459M	BAIAP2_ENST00000575245.1_Missense_Mutation_p.L492M|BAIAP2_ENST00000392411.3_Missense_Mutation_p.L381M|BAIAP2_ENST00000416299.2_Missense_Mutation_p.L322M|BAIAP2_ENST00000428708.2_Missense_Mutation_p.L459M|BAIAP2_ENST00000321280.7_Missense_Mutation_p.L459M|BAIAP2_ENST00000435091.3_Missense_Mutation_p.L459M|BAIAP2_ENST00000575712.1_Missense_Mutation_p.L459M	NM_001144888.1|NM_017451.2	NP_001138360.1|NP_059345.1	Q9UQB8	BAIP2_HUMAN	BAI1-associated protein 2	459					axonogenesis|filopodium assembly|insulin receptor signaling pathway|regulation of actin cytoskeleton organization|response to bacterium	cell junction|cytoskeleton|cytosol|filopodium|nucleus|ruffle	cytoskeletal adaptor activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)	18	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			GGGCAACCTCCTGGACAAGGA	0.692													8	26					1.76689e-08	2.10148e-08	1	1	0	A	79080582	C	A	79080582	3	1	81	1	0	0	0	0	1	0	0	0	1299	680	24	4	1421	4	BAIAP2	17	79080582	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2875	79080582	2114628	12786	16402											
AATK	9625	broad.mit.edu	37	17	79093214	79093214	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:79093214C>T	ENST00000326724.4	-	13	4074	c.4050G>A	c.(4048-4050)acG>acA	p.T1350T	AATK_ENST00000417379.1_Silent_p.T1247T	NM_001080395.2	NP_001073864.2	Q6ZMQ8	LMTK1_HUMAN	apoptosis-associated tyrosine kinase	1350						integral to membrane|mitochondrion|perinuclear region of cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			endometrium(2)|kidney(2)|lung(8)|ovary(3)|prostate(1)|stomach(4)|upper_aerodigestive_tract(1)	21	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			CAGACACGTGCGTGATGGAGA	0.736													5	13					0	0	1	0	0	T	79093214	C	T	79093214	2	4	81	1	0	0	0	0	0	0	0	1	26	755	27	1		1	AATK	17	79093214	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	12632	79093214	2101996	12787	16403											
AATK	9625	broad.mit.edu	37	17	79093232	79093232	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:79093232C>T	ENST00000326724.4	-	13	4056	c.4032G>A	c.(4030-4032)acG>acA	p.T1344T	AATK_ENST00000417379.1_Silent_p.T1241T	NM_001080395.2	NP_001073864.2	Q6ZMQ8	LMTK1_HUMAN	apoptosis-associated tyrosine kinase	1344						integral to membrane|mitochondrion|perinuclear region of cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			endometrium(2)|kidney(2)|lung(8)|ovary(3)|prostate(1)|stomach(4)|upper_aerodigestive_tract(1)	21	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			AGAAGCGGGACGTGGGCGCGG	0.736													6	13					0	0	1	0	0	T	79093232	C	T	79093232	2	4	81	1	0	0	0	0	0	0	0	1	26	523	19	1		1	AATK	17	79093232	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	18	79093232	2101978	12788	16404											
AZI1	22994	broad.mit.edu	37	17	79165000	79165000	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:79165000C>T	ENST00000269392.4	-	22	3014	c.2767G>A	c.(2767-2769)Gag>Aag	p.E923K	AZI1_ENST00000374782.3_Missense_Mutation_p.E884K|AZI1_ENST00000575907.1_Missense_Mutation_p.E887K|AZI1_ENST00000450824.2_Missense_Mutation_p.E920K	NM_014984.2	NP_055799.2	Q9UPN4	AZI1_HUMAN	5-azacytidine induced 1	923					cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centrosome|cytosol|intracellular membrane-bounded organelle		p.E920K(1)|p.E884K(1)		breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(1)|lung(12)|ovary(2)|prostate(3)|urinary_tract(5)	36	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			TACCGGCTCTCGGCAGCCTTC	0.652													24	30					0	0	1	0	0	T	79165000	C	T	79165000	3	4	81	1	0	0	0	0	1	0	0	0	1238	893	31	1	504	1	AZI1	17	79165000	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	71768	79165000	2030210	12789	16405											
AZI1	22994	broad.mit.edu	37	17	79166385	79166385	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:79166385G>A	ENST00000269392.4	-	20	2694	c.2447C>T	c.(2446-2448)gCg>gTg	p.A816V	AZI1_ENST00000374782.3_Missense_Mutation_p.A777V|AZI1_ENST00000575907.1_Missense_Mutation_p.A780V|AZI1_ENST00000450824.2_Missense_Mutation_p.A813V	NM_014984.2	NP_055799.2	Q9UPN4	AZI1_HUMAN	5-azacytidine induced 1	816					cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centrosome|cytosol|intracellular membrane-bounded organelle				breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(1)|lung(12)|ovary(2)|prostate(3)|urinary_tract(5)	36	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			TTCCAGCTCCGCCCGCTGCCT	0.682													9	4					0	0	1	0	0	A	79166385	G	A	79166385	3	1	81	1	0	0	0	0	1	0	0	0	1238	1087	38	1	832	1	AZI1	17	79166385	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1385	79166385	2028825	12790	16406											
AZI1	22994	broad.mit.edu	37	17	79170554	79170554	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:79170554G>A	ENST00000269392.4	-	15	2102	c.1855C>T	c.(1855-1857)Cag>Tag	p.Q619*	AZI1_ENST00000450824.2_Nonsense_Mutation_p.Q616*|AZI1_ENST00000575907.1_Nonsense_Mutation_p.Q619*|AZI1_ENST00000374782.3_Nonsense_Mutation_p.Q616*	NM_014984.2	NP_055799.2	Q9UPN4	AZI1_HUMAN	5-azacytidine induced 1	619					cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centrosome|cytosol|intracellular membrane-bounded organelle				breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(1)|lung(12)|ovary(2)|prostate(3)|urinary_tract(5)	36	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			TGCTCCCTCTGCCGCTGCAGC	0.701													3	4					0	0	1	0	0	A	79170554	G	A	79170554	4	1	81	1	0	0	0	0	0	1	0	0	1238	1328	46	2	1444	2	AZI1	17	79170554	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	4169	79170554	2024656	12791	16407											
FSCN2	25794	broad.mit.edu	37	17	79496251	79496251	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:79496251G>A	ENST00000417245.2	+	1	830	c.694G>A	c.(694-696)Gtg>Atg	p.V232M	FSCN2_ENST00000334850.7_Missense_Mutation_p.V232M	NM_001077182.2|NM_012418.3	NP_001070650.1|NP_036550.1	O14926	FSCN2_HUMAN	fascin homolog 2, actin-bundling protein, retinal (Strongylocentrotus purpuratus)	232					actin filament bundle assembly|anatomical structure morphogenesis|visual perception	actin cytoskeleton|cytoplasm|stereocilium	actin filament binding|protein binding, bridging			endometrium(1)|lung(1)|prostate(1)|urinary_tract(1)	4	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)			CCTGGCACCCGTGGGGCCCGC	0.662													3	3					0	0	1	0	0	A	79496251	G	A	79496251	3	1	81	1	0	0	0	0	1	0	0	0	6103	1145	40	1	696	1	FSCN2	17	79496251	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	325697	79496251	1698959	12792	16408											
C17orf70	80233	broad.mit.edu	37	17	79517694	79517694	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:79517694G>T	ENST00000537152.1	-	3	898	c.373C>A	c.(373-375)Cat>Aat	p.H125N	C17orf70_ENST00000327787.8_Missense_Mutation_p.H276N	NM_025161.5	NP_079437.5	Q0VG06	FP100_HUMAN	chromosome 17 open reading frame 70	276					DNA repair	cytoplasm|intermediate filament cytoskeleton|nucleoplasm	DNA binding			breast(1)|central_nervous_system(1)|endometrium(1)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	19	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)			TCCAGGTGATGGAGGATCTTG	0.577													7	55					0.00198382	0.00209725	1	1	0	T	79517694	G	T	79517694	3	4	81	1	0	0	0	0	1	0	0	0	1886	1348	47	5	1847	5	C17orf70	17	79517694	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	21443	79517694	1677516	12793	16409											
TSPAN10	83882	broad.mit.edu	37	17	79612540	79612540	+	RNA	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:79612540C>T	ENST00000328585.4	+	0	649				TSPAN10_ENST00000572675.1_RNA	NM_031945.3	NP_114151.3	Q9H1Z9	TSN10_HUMAN	tetraspanin 10							integral to membrane				ovary(1)	1	all_neural(118;0.0878)|all_lung(278;0.175)|Lung NSC(278;0.192)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			GCACACCCTGCGTGTGGCCAT	0.687													3	2					0	0	1	0	0	T	79612540	C	T	79612540	1	4	81	0	1	0	0	0	0	0	0	0	16695	768	27	1		1	TSPAN10	17	79612540	RNA	SNP	C	TCGA-DU-6392-01A-11D-1705-08	94846	79612540	1582670	12794	16410											
CCDC137	339230	broad.mit.edu	37	17	79638824	79638824	+	Missense_Mutation	SNP	C	C	T	rs79563828	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:79638824C>T	ENST00000329214.8	+	4	951	c.548C>T	c.(547-549)gCg>gTg	p.A183V		NM_199287.2	NP_954981.1	Q6PK04	CC137_HUMAN	coiled-coil domain containing 137	183										NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(2)	12	all_neural(118;0.0878)|all_lung(278;0.23)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			GAGGAAAAGGCGGCAGACAGG	0.567													9	21					0	0	1	0	0	T	79638824	C	T	79638824	3	4	81	1	0	0	0	0	1	0	0	0	2789	768	27	1	562	1	CCDC137	17	79638824	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	26284	79638824	1556386	12795	16411											
HGS	9146	broad.mit.edu	37	17	79654062	79654062	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:79654062C>T	ENST00000329138.4	+	4	363	c.228C>T	c.(226-228)ggC>ggT	p.G76G		NM_004712.4	NP_004703.1	O14964	HGS_HUMAN	hepatocyte growth factor-regulated tyrosine kinase substrate	76	VHS.				cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of JAK-STAT cascade|regulation of protein catabolic process	cytosol|early endosome membrane|multivesicular body membrane	metal ion binding|protein domain specific binding			endometrium(2)|kidney(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12	all_neural(118;0.0878)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)			AGAACTGTGGCCAGACAGTTC	0.622													6	10					0	0	1	0	0	T	79654062	C	T	79654062	2	4	81	1	0	0	0	0	0	0	0	1	7128	726	26	2		2	HGS	17	79654062	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	15238	79654062	1541148	12796	16412											
HGS	9146	broad.mit.edu	37	17	79667739	79667739	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:79667739G>T	ENST00000329138.4	+	20	2166	c.2031G>T	c.(2029-2031)caG>caT	p.Q677H		NM_004712.4	NP_004703.1	O14964	HGS_HUMAN	hepatocyte growth factor-regulated tyrosine kinase substrate	677	Gln-rich.|Interaction with NF2.				cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of JAK-STAT cascade|regulation of protein catabolic process	cytosol|early endosome membrane|multivesicular body membrane	metal ion binding|protein domain specific binding			endometrium(2)|kidney(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12	all_neural(118;0.0878)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)			TGGCCTCCCAGGCCCCACAGA	0.667													4	36					0.150653	0.152522	1	1	0	T	79667739	G	T	79667739	3	4	81	1	0	0	0	0	1	0	0	0	7128	991	35	4	2109	4	HGS	17	79667739	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	13677	79667739	1527471	12797	16413											
P4HB	5034	broad.mit.edu	37	17	79803050	79803050	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:79803050G>A	ENST00000331483.4	-	10	1638	c.1416C>T	c.(1414-1416)agC>agT	p.S472S	P4HB_ENST00000576390.1_Intron|P4HB_ENST00000439918.2_Silent_p.S428S	NM_000918.3	NP_000909.2	P07237	PDIA1_HUMAN	prolyl 4-hydroxylase, beta polypeptide	472	Thioredoxin 2.				cell redox homeostasis|glycerol ether metabolic process|lipid metabolic process|lipoprotein metabolic process|peptidyl-proline hydroxylation to 4-hydroxy-L-proline	cell surface|endoplasmic reticulum lumen|ER-Golgi intermediate compartment|extracellular region|melanosome|plasma membrane	electron carrier activity|procollagen-proline 4-dioxygenase activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			NS(1)|breast(1)|large_intestine(2)|lung(17)|urinary_tract(1)	22	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0509)			CCTGGCCACCGCTCTCCAGGA	0.607													8	10					0	0	1	0	0	A	79803050	G	A	79803050	2	1	81	1	0	0	0	0	0	0	0	1	11406	1078	38	1		1	P4HB	17	79803050	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	135311	79803050	1392160	12798	16414											
SIRT7	51547	broad.mit.edu	37	17	79872022	79872022	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:79872022G>T	ENST00000328666.6	-	8	900	c.838C>A	c.(838-840)Ctc>Atc	p.L280I		NM_016538.2	NP_057622.1	Q9NRC8	SIRT7_HUMAN	sirtuin 7	280	Deacetylase sirtuin-type.				chromatin silencing|positive regulation of transcription on exit from mitosis|protein deacetylation|rRNA transcription	cytoplasm|nucleolus organizer region	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|NAD+ binding|protein binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.0165)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			ATGCACCAGAGGCGTGGGTAC	0.582													18	42					3.52763e-06	4.02143e-06	1	1	0	T	79872022	G	T	79872022	3	4	81	1	0	0	0	0	1	0	0	0	14398	1000	35	4	376	4	SIRT7	17	79872022	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	68972	79872022	1323188	12799	16415											
NOTUM	147111	broad.mit.edu	37	17	79916837	79916837	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:79916837G>A	ENST00000409678.3	-	4	890	c.507C>T	c.(505-507)aaC>aaT	p.N169N		NM_178493.5	NP_848588.3	Q6P988	NOTUM_HUMAN	notum pectinacetylesterase homolog (Drosophila)	169						extracellular region	hydrolase activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	15	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			ACCAGTAGGGGTTCTCCTCCG	0.632													20	30					0	0	1	0	0	A	79916837	G	A	79916837	2	1	81	1	0	0	0	0	0	0	0	1	10599	1252	44	2		2	NOTUM	17	79916837	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	44815	79916837	1278373	12800	16416											
ASPSCR1	79058	broad.mit.edu	37	17	79970085	79970085	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:79970085C>T	ENST00000580534.1	+	11	1311	c.1123C>T	c.(1123-1125)Cgt>Tgt	p.R375C	ASPSCR1_ENST00000306729.7_Intron|ASPSCR1_ENST00000306739.4_Intron			Q9BZE9	ASPC1_HUMAN	alveolar soft part sarcoma chromosome region, candidate 1	433	Interaction with GLUT4 (By similarity).						protein binding		ASPSCR1/TFE3(167)	breast(2)|large_intestine(2)	4	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)			CTTCCTAACACGTAGGTGCCT	0.617			T	TFE3	alveolar soft part sarcoma								11	25					0	0	1	0	0	T	79970085	C	T	79970085	3	4	81	1	0	0	0	0	1	0	0	0	1058	551	19	1		1	ASPSCR1	17	79970085	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	53248	79970085	1225125	12801	16417											
LRRC45	201255	broad.mit.edu	37	17	79983272	79983272	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:79983272G>A	ENST00000306688.3	+	5	892	c.550G>A	c.(550-552)Gtt>Att	p.V184I	LRRC45_ENST00000583383.1_3'UTR	NM_144999.2	NP_659436.1	Q96CN5	LRC45_HUMAN	leucine rich repeat containing 45	184						centrosome				lung(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	5	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)			CTGGAATAACGTTGGCCTCCT	0.627													21	49					0	0	1	0	0	A	79983272	G	A	79983272	3	1	81	1	0	0	0	0	1	0	0	0	9047	1145	40	1	568	1	LRRC45	17	79983272	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	13187	79983272	1211938	12802	16418											
DUS1L	64118	broad.mit.edu	37	17	80022791	80022791	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:80022791G>T	ENST00000354321.7	-	1	630	c.145C>A	c.(145-147)Ctg>Atg	p.L49M	DUS1L_ENST00000306796.5_Missense_Mutation_p.L49M			Q6P1R4	DUS1L_HUMAN	dihydrouridine synthase 1-like (S. cerevisiae)	49					tRNA processing		flavin adenine dinucleotide binding|tRNA dihydrouridine synthase activity			breast(1)|endometrium(1)|lung(2)|ovary(1)|skin(1)	6	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211)			TGGGCATGCAGCATGGGCGTG	0.692													5	64					0.014758	0.0152304	1	1	0	T	80022791	G	T	80022791	3	4	81	1	0	0	0	0	1	0	0	0	4831	962	34	4	1328	4	DUS1L	17	80022791	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	39519	80022791	1172419	12803	16419											
FASN	2194	broad.mit.edu	37	17	80039944	80039944	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:80039944C>T	ENST00000306749.2	-	36	6322	c.6104G>A	c.(6103-6105)gGc>gAc	p.G2035D	FASN_ENST00000579758.1_5'UTR	NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	2035	Beta-ketoacyl reductase (By similarity).				energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	cytosol|Golgi apparatus|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)	ATTGGCAAAGCCGTAGTTGCT	0.652													4	59					0	0	1	0	0	T	80039944	C	T	80039944	3	4	81	1	0	0	0	0	1	0	0	0	5716	739	26	2	1463	2	FASN	17	80039944	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	17153	80039944	1155266	12804	16420											
FASN	2194	broad.mit.edu	37	17	80045217	80045217	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:80045217C>T	ENST00000306749.2	-	20	3425	c.3207G>A	c.(3205-3207)ctG>ctA	p.L1069L		NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	1069					energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	cytosol|Golgi apparatus|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)	CCTTGTCCTGCAGTGTGTACA	0.667													10	21					0	0	1	0	0	T	80045217	C	T	80045217	2	4	81	1	0	0	0	0	0	0	0	1	5716	697	25	2		2	FASN	17	80045217	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	5273	80045217	1149993	12805	16421											
FASN	2194	broad.mit.edu	37	17	80045228	80045228	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:80045228G>A	ENST00000306749.2	-	20	3414	c.3196C>T	c.(3196-3198)Ctg>Ttg	p.L1066L		NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	1066					energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	cytosol|Golgi apparatus|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)	AGTGTGTACAGCTTCTGCCTG	0.662													6	29					0	0	1	0	0	A	80045228	G	A	80045228	2	1	81	1	0	0	0	0	0	0	0	1	5716	962	34	2		2	FASN	17	80045228	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	11	80045228	1149982	12806	16422											
FASN	2194	broad.mit.edu	37	17	80053284	80053284	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:80053284G>A	ENST00000306749.2	-	3	410	c.192C>T	c.(190-192)ttC>ttT	p.F64F		NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	64	Beta-ketoacyl synthase (By similarity).				energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	cytosol|Golgi apparatus|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)	GGACTCCGAAGAAGGAGGCAT	0.617													13	27					0	0	1	0	0	A	80053284	G	A	80053284	2	1	81	1	0	0	0	0	0	0	0	1	5716	933	33	2		2	FASN	17	80053284	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	8056	80053284	1141926	12807	16423											
CCDC57	284001	broad.mit.edu	37	17	80136450	80136450	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:80136450G>A	ENST00000389641.4	-	10	1442	c.1406C>T	c.(1405-1407)gCg>gTg	p.A469V	CCDC57_ENST00000327026.3_5'UTR|CCDC57_ENST00000392343.3_Missense_Mutation_p.A469V|CCDC57_ENST00000392347.1_Missense_Mutation_p.A469V			Q2TAC2	CCD57_HUMAN	coiled-coil domain containing 57	469										endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	16	Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253)			CTCCTGTAGCGCCTGCTCTGT	0.647													9	17					0	0	1	0	0	A	80136450	G	A	80136450	3	1	81	1	0	0	0	0	1	0	0	0	2847	1087	38	1	1373	1	CCDC57	17	80136450	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	83166	80136450	1058760	12808	16424											
CSNK1D	1453	broad.mit.edu	37	17	80211027	80211027	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:80211027G>T	ENST00000314028.6	-	4	779	c.430C>A	c.(430-432)Ctg>Atg	p.L144M	CSNK1D_ENST00000398519.5_Missense_Mutation_p.L144M|CSNK1D_ENST00000578904.1_5'UTR|CSNK1D_ENST00000392334.2_Missense_Mutation_p.L144M	NM_001893.4	NP_001884.2	P48730	KC1D_HUMAN	casein kinase 1, delta	144	Protein kinase.				circadian regulation of gene expression|DNA repair|G2/M transition of mitotic cell cycle|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|regulation of circadian rhythm|Wnt receptor signaling pathway	centrosome|cytosol|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|large_intestine(2)|lung(7)	11	Breast(20;0.00136)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.227)		OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0155)			ATGTACACCAGGTTGCCCTTC	0.547													56	80					6.20203e-27	8.22881e-27	1	1	0	T	80211027	G	T	80211027	3	4	81	1	0	0	0	0	1	0	0	0	3977	991	35	4	878	4	CSNK1D	17	80211027	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	74577	80211027	984183	12809	16425											
CD7	924	broad.mit.edu	37	17	80274543	80274543	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:80274543C>A	ENST00000584284.1	-	2	478	c.397G>T	c.(397-399)Gag>Tag	p.E133*	CD7_ENST00000578509.1_Splice_Site_p.E33*|CD7_ENST00000583376.1_Splice_Site_p.E33*|CD7_ENST00000312648.3_Splice_Site_p.E133*			P09564	CD7_HUMAN	CD7 molecule	133					immune response|T cell activation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to membrane|membrane fraction|plasma membrane	receptor activity			endometrium(1)|large_intestine(1)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	8	Breast(20;0.000675)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.249)		OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0667)			CATTCCCTACCTGTCACCAGG	0.657													10	75					3.86212e-05	4.27865e-05	1	1	0	A	80274543	C	A	80274543	5	1	81	1	0	0	0	0	0	0	1	0	3054	695	24	4	337	4	CD7	17	80274543	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	63516	80274543	920667	12810	16426											
FOXK2	3607	broad.mit.edu	37	17	80559225	80559225	+	Silent	SNP	G	G	A	rs151062508		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:80559225G>A	ENST00000335255.5	+	9	2007	c.1833G>A	c.(1831-1833)tcG>tcA	p.S611S	FOXK2_ENST00000529652.1_3'UTR	NM_004514.3	NP_004505.2	Q01167	FOXK2_HUMAN	forkhead box K2	611					embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|magnesium ion binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|urinary_tract(1)	17	Breast(20;0.00106)|all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.0371)|BRCA - Breast invasive adenocarcinoma(99;0.0415)			CATCCGCATCGGCCTCCCTGC	0.622													12	29					0	0	1	0	0	A	80559225	G	A	80559225	2	1	81	1	0	0	0	0	0	0	0	1	6049	1103	39	1		1	FOXK2	17	80559225	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	284682	80559225	635985	12811	16427											
FN3KRP	79672	broad.mit.edu	37	17	80684939	80684939	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:80684939G>A	ENST00000269373.6	+	6	895	c.822G>A	c.(820-822)gaG>gaA	p.E274E	FN3KRP_ENST00000535965.1_Silent_p.E224E	NM_024619.3	NP_078895.2	Q9HA64	KT3K_HUMAN	fructosamine 3 kinase related protein	274							kinase activity			breast(1)|large_intestine(2)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	7	Breast(20;0.000523)|all_neural(118;0.0952)		BRCA - Breast invasive adenocarcinoma(99;0.0344)|OV - Ovarian serous cystadenocarcinoma(97;0.061)			CAGGATTCGAGAAGCGCCTTC	0.507													34	45					0	0	1	0	0	A	80684939	G	A	80684939	2	1	81	1	0	0	0	0	0	0	0	1	5997	933	33	2		2	FN3KRP	17	80684939	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	125714	80684939	510271	12812	16428											
TBCD	6904	broad.mit.edu	37	17	80739561	80739561	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:80739561G>T	ENST00000355528.4	+	7	865	c.735G>T	c.(733-735)caG>caT	p.Q245H	TBCD_ENST00000539345.2_Missense_Mutation_p.Q245H|TBCD_ENST00000397466.2_5'UTR	NM_005993.4	NP_005984.3	Q9BTW9	TBCD_HUMAN	tubulin folding cofactor D	245					'de novo' posttranslational protein folding|adherens junction assembly|negative regulation of cell-substrate adhesion|negative regulation of microtubule polymerization|post-chaperonin tubulin folding pathway|tight junction assembly	adherens junction|cytoplasm|lateral plasma membrane|microtubule|tight junction	beta-tubulin binding|chaperone binding|GTPase activator activity					Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)			AGACCATGCAGGGGGTCATCA	0.592											OREG0024827	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	59					0.0293803	0.0300537	1	1	0	T	80739561	G	T	80739561	3	4	81	1	0	0	0	0	1	0	0	0	15693	991	35	4	761	4	TBCD	17	80739561	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	54622	80739561	455649	12813	16429											
ZNF750	79755	broad.mit.edu	37	17	80788324	80788324	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:80788324G>A	ENST00000269394.3	-	3	2699	c.1866C>T	c.(1864-1866)tgC>tgT	p.C622C	TBCD_ENST00000539345.2_Intron|TBCD_ENST00000355528.4_Intron|ZNF750_ENST00000572562.1_Silent_p.C223C|TBCD_ENST00000397466.2_Intron	NM_024702.2	NP_078978.2	Q32MQ0	ZN750_HUMAN	zinc finger protein 750	622						intracellular	zinc ion binding			NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	31	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)			TGTCCACCGCGCATGCGTCTG	0.706													12	24					0	0	1	0	0	A	80788324	G	A	80788324	2	1	81	1	0	0	0	0	0	0	0	1	18182	1079	38	1		1	ZNF750	17	80788324	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	48763	80788324	406886	12814	16430											
ZNF750	79755	broad.mit.edu	37	17	80788577	80788577	+	Missense_Mutation	SNP	G	G	A	rs142714888		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:80788577G>A	ENST00000269394.3	-	3	2446	c.1613C>T	c.(1612-1614)gCg>gTg	p.A538V	TBCD_ENST00000539345.2_Intron|TBCD_ENST00000355528.4_Intron|ZNF750_ENST00000572562.1_Missense_Mutation_p.A139V|TBCD_ENST00000397466.2_Intron	NM_024702.2	NP_078978.2	Q32MQ0	ZN750_HUMAN	zinc finger protein 750	538						intracellular	zinc ion binding			NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	31	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)			GGCGGTTTCCGCCTGGGGGCT	0.627													7	66					0	0	1	0	0	A	80788577	G	A	80788577	3	1	81	1	0	0	0	0	1	0	0	0	18182	1087	38	1	562	1	ZNF750	17	80788577	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	253	80788577	406633	12815	16431											
TBCD	6904	broad.mit.edu	37	17	80885151	80885151	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:80885151G>A	ENST00000355528.4	+	29	2691	c.2561G>A	c.(2560-2562)gGc>gAc	p.G854D	TBCD_ENST00000539345.2_Missense_Mutation_p.G854D	NM_005993.4	NP_005984.3	Q9BTW9	TBCD_HUMAN	tubulin folding cofactor D	854					'de novo' posttranslational protein folding|adherens junction assembly|negative regulation of cell-substrate adhesion|negative regulation of microtubule polymerization|post-chaperonin tubulin folding pathway|tight junction assembly	adherens junction|cytoplasm|lateral plasma membrane|microtubule|tight junction	beta-tubulin binding|chaperone binding|GTPase activator activity					Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)			GCGCTGCTGGGCTGCATGGAC	0.547													13	21					0	0	1	0	0	A	80885151	G	A	80885151	3	1	81	1	0	0	0	0	1	0	0	0	15693	1203	42	2	2675	2	TBCD	17	80885151	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	96574	80885151	310059	12816	16432											
METRNL	284207	broad.mit.edu	37	17	81043069	81043069	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:81043069G>T	ENST00000571814.1	+	1	1121	c.180G>T	c.(178-180)caG>caT	p.Q60H	METRNL_ENST00000320095.7_Missense_Mutation_p.Q142H|METRNL_ENST00000570778.1_Missense_Mutation_p.Q60H			Q641Q3	METRL_HUMAN	meteorin, glial cell differentiation regulator-like	142						extracellular region				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	8	Breast(20;0.000443)|all_neural(118;0.0779)		BRCA - Breast invasive adenocarcinoma(99;0.0517)|OV - Ovarian serous cystadenocarcinoma(97;0.0868)			GCCGGGTGCAGTGTTTTGGCC	0.622													9	52					1.5842e-08	1.88841e-08	1	1	0	T	81043069	G	T	81043069	3	4	81	1	0	0	0	0	1	0	0	0	9539	1020	36	4	432	4	METRNL	17	81043069	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	157918	81043069	152141	12817	16433											
USP14	9097	broad.mit.edu	37	18	197620	197620	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:197620C>T	ENST00000261601.7	+	8	690	c.599C>T	c.(598-600)gCt>gTt	p.A200V	USP14_ENST00000383589.2_Missense_Mutation_p.A154V|USP14_ENST00000582707.1_Missense_Mutation_p.A165V|USP14_ENST00000400266.3_Missense_Mutation_p.A189V	NM_005151.3	NP_005142.1	P54578	UBP14_HUMAN	ubiquitin specific peptidase 14 (tRNA-guanine transglycosylase)						regulation of chemotaxis|regulation of proteasomal protein catabolic process|ubiquitin-dependent protein catabolic process	cell surface|cytoplasmic membrane-bounded vesicle|plasma membrane|proteasome complex	cysteine-type endopeptidase activity|endopeptidase inhibitor activity|proteasome binding|tRNA guanylyltransferase activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|skin(2)	11		all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412)				TTACAGGATGCTAATGAATGT	0.333													14	40					0	0	1	0	0	T	197620	C	T	197620	3	4	81	1	0	0	0	0	1	0	0	0	17105	797	28	2	629	2	USP14	18	197620	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08		197620	77879628	12818	16434											
THOC1	9984	broad.mit.edu	37	18	265475	265475	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:265475A>C	ENST00000261600.6	-	2	117	c.110T>G	c.(109-111)tTc>tGc	p.F37C	THOC1_ENST00000582313.1_5'UTR	NM_005131.2	NP_005122.2	Q96FV9	THOC1_HUMAN	THO complex 1	37					apoptosis|intronless viral mRNA export from host nucleus|mRNA processing|regulation of transcription elongation, DNA-dependent|RNA splicing|signal transduction|transcription, DNA-dependent	cytoplasm|nuclear matrix|nuclear speck|THO complex part of transcription export complex	DNA binding|protein binding|RNA binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	20		all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412)				TACCTGGCTGAAGGTACTTAA	0.343													7	4					0	0	1	0	0	C	265475	A	C	265475	3	2	81	1	0	0	0	0	1	0	0	0	15924	246	9	5	1943	5	THOC1	18	265475	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	67855	265475	77811773	12819	16435											
C18orf56	494514	broad.mit.edu	37	18	658106	658106	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:658106A>G	ENST00000323813.3	-	1	234	c.142T>C	c.(142-144)Ttc>Ctc	p.F48L	TYMS_ENST00000323224.7_Intron|C18orf56_ENST00000585033.1_Missense_Mutation_p.F48L|TYMS_ENST00000323250.5_Intron|TYMS_ENST00000323274.10_Intron	NM_001012716.2	NP_001012734.2	Q8TAI1	CR056_HUMAN	chromosome 18 open reading frame 56	48							protein binding										CAGACGCCGAAACGGAGGGTC	0.692													2	5					0	0	1	0	0	G	658106	A	G	658106	3	3	81	1	0	0	0	0	1	0	0	0	1917	14	1	3	233	3	C18orf56	18	658106	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	392631	658106	77419142	12820	16436											
ENOSF1	55556	broad.mit.edu	37	18	678709	678709	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:678709G>A	ENST00000319815.6	-	4	1479	c.215C>T	c.(214-216)gCc>gTc	p.A72V	ENOSF1_ENST00000583973.1_5'UTR|ENOSF1_ENST00000383578.3_Missense_Mutation_p.A220V|ENOSF1_ENST00000251101.7_Missense_Mutation_p.A302V|ENOSF1_ENST00000340116.7_Intron|ENOSF1_ENST00000580982.1_Missense_Mutation_p.A226V			Q7L5Y1	ENOF1_HUMAN	enolase superfamily member 1	302					cellular amino acid catabolic process	mitochondrion	isomerase activity|metal ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	10						TTCTCCTGTGGCAATGCCAAT	0.483													8	82					0	0	1	0	0	A	678709	G	A	678709	3	1	81	1	0	0	0	0	1	0	0	0	5153	1203	42	2	446	2	ENOSF1	18	678709	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	20603	678709	77398539	12821	16437											
ENOSF1	55556	broad.mit.edu	37	18	685955	685955	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:685955A>T	ENST00000319815.6	-	2	1281	c.17T>A	c.(16-18)aTc>aAc	p.I6N	ENOSF1_ENST00000583973.1_5'UTR|ENOSF1_ENST00000383578.3_Missense_Mutation_p.I154N|ENOSF1_ENST00000251101.7_Missense_Mutation_p.I236N|ENOSF1_ENST00000340116.7_Missense_Mutation_p.I257N|ENOSF1_ENST00000580982.1_Missense_Mutation_p.I160N			Q7L5Y1	ENOF1_HUMAN	enolase superfamily member 1	236					cellular amino acid catabolic process	mitochondrion	isomerase activity|metal ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	10						GTCTCGGATGATTTGGCATCT	0.433													6	115					0	0	1	0	0	T	685955	A	T	685955	3	4	81	1	0	0	0	0	1	0	0	0	5153	333	12	4	652	4	ENOSF1	18	685955	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	7246	685955	77391293	12822	16438											
ENOSF1	55556	broad.mit.edu	37	18	691249	691249	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:691249C>A	ENST00000383578.3	-	5	409	c.205G>T	c.(205-207)Gat>Tat	p.D69Y	ENOSF1_ENST00000539164.1_3'UTR|ENOSF1_ENST00000251101.7_Missense_Mutation_p.D151Y|ENOSF1_ENST00000340116.7_Missense_Mutation_p.D172Y|ENOSF1_ENST00000580982.1_Intron	NM_001126123.3	NP_001119595.1	Q7L5Y1	ENOF1_HUMAN	enolase superfamily member 1	151					cellular amino acid catabolic process	mitochondrion	isomerase activity|metal ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	10						TACCTGAAATCTATGCAGGAT	0.458													11	45					0.000978159	0.00104673	1	1	0	A	691249	C	A	691249	3	1	81	1	0	0	0	0	1	0	0	0	5153	913	32	4	924	4	ENOSF1	18	691249	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	5294	691249	77385999	12823	16439											
ENOSF1	55556	broad.mit.edu	37	18	691268	691268	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:691268C>T	ENST00000383578.3	-	5	390	c.186G>A	c.(184-186)agG>agA	p.R62R	ENOSF1_ENST00000539164.1_3'UTR|ENOSF1_ENST00000251101.7_Silent_p.R144R|ENOSF1_ENST00000340116.7_Silent_p.R165R|ENOSF1_ENST00000580982.1_Intron	NM_001126123.3	NP_001119595.1	Q7L5Y1	ENOF1_HUMAN	enolase superfamily member 1	144					cellular amino acid catabolic process	mitochondrion	isomerase activity|metal ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	10						ATACCAGCATCCTGGGATCCT	0.428													11	31					0	0	1	0	0	T	691268	C	T	691268	2	4	81	1	0	0	0	0	0	0	0	1	5153	854	30	2		2	ENOSF1	18	691268	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	19	691268	77385980	12824	16440											
YES1	7525	broad.mit.edu	37	18	743026	743026	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:743026G>T	ENST00000584307.1	-	8	1122	c.952C>A	c.(952-954)Ctt>Att	p.L318I	YES1_ENST00000577961.1_Missense_Mutation_p.L323I|YES1_ENST00000314574.4_Missense_Mutation_p.L318I			P07947	YES_HUMAN	v-yes-1 Yamaguchi sarcoma viral oncogene homolog 1	318	Protein kinase.				blood coagulation|leukocyte migration|regulation of vascular permeability|T cell costimulation	cytosol|plasma membrane	ATP binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(1)	17					Dasatinib(DB01254)	GCTTCTTGAAGGAAAGCTTCT	0.323													10	72					0.000442599	0.000477972	1	1	0	T	743026	G	T	743026	3	4	81	1	0	0	0	0	1	0	0	0	17534	1000	35	4	699	4	YES1	18	743026	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	51758	743026	77334222	12825	16441											
NDC80	10403	broad.mit.edu	37	18	2578944	2578944	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:2578944C>T	ENST00000261597.4	+	6	677	c.495C>T	c.(493-495)tcC>tcT	p.S165S		NM_006101.2	NP_006092.1	O14777	NDC80_HUMAN	NDC80 kinetochore complex component	165	Interaction with RB1.|Interaction with the N-terminus of CDCA1.|Nuclear localization.				attachment of spindle microtubules to kinetochore|cell division|establishment of mitotic spindle orientation|mitotic prometaphase|mitotic sister chromatid segregation|mitotic spindle organization|phosphatidylinositol-mediated signaling	condensed nuclear chromosome outer kinetochore|cytosol|Ndc80 complex	protein binding			NS(1)|biliary_tract(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)|urinary_tract(2)	22						TTGCACTATCCAAAAGCTCCA	0.348													7	44					0	0	1	0	0	T	2578944	C	T	2578944	2	4	81	1	0	0	0	0	0	0	0	1	10289	581	21	2		2	NDC80	18	2578944	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1835918	2578944	75498304	12826	16442											
SMCHD1	23347	broad.mit.edu	37	18	2666211	2666211	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:2666211A>G	ENST00000320876.6	+	2	580	c.242A>G	c.(241-243)gAa>gGa	p.E81G	SMCHD1_ENST00000261598.8_Missense_Mutation_p.E81G	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1	81					chromosome organization		ATP binding			NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						AGTAGGAAAGAAATTACCTGT	0.259													5	8					0	0	1	0	0	G	2666211	A	G	2666211	3	3	81	1	0	0	0	0	1	0	0	0	14842	246	9	3	248	3	SMCHD1	18	2666211	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	87267	2666211	75411037	12827	16443											
SMCHD1	23347	broad.mit.edu	37	18	2738483	2738483	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:2738483G>A	ENST00000320876.6	+	26	3703	c.3365G>A	c.(3364-3366)cGc>cAc	p.R1122H	SMCHD1_ENST00000261598.8_Missense_Mutation_p.R1122H|RP11-703M24.5_ENST00000583546.1_RNA	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1	1122					chromosome organization		ATP binding			NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						AAAGATATGCGCTATTGCCAG	0.398													8	26					0	0	1	0	0	A	2738483	G	A	2738483	3	1	81	1	0	0	0	0	1	0	0	0	14842	1087	38	1	3467	1	SMCHD1	18	2738483	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	72272	2738483	75338765	12828	16444											
SMCHD1	23347	broad.mit.edu	37	18	2762115	2762115	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:2762115G>A	ENST00000320876.6	+	36	4785	c.4447G>A	c.(4447-4449)Gtc>Atc	p.V1483I	SMCHD1_ENST00000261598.8_Missense_Mutation_p.V1483I|RP11-703M24.5_ENST00000583546.1_RNA	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1	1483					chromosome organization		ATP binding			NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						TATAGTTGAAGTCCTGCCTAA	0.378													17	51					0	0	1	0	0	A	2762115	G	A	2762115	3	1	81	1	0	0	0	0	1	0	0	0	14842	1029	36	2	4589	2	SMCHD1	18	2762115	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	23632	2762115	75315133	12829	16445											
EMILIN2	84034	broad.mit.edu	37	18	2885065	2885065	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:2885065G>T	ENST00000254528.3	+	3	520	c.361G>T	c.(361-363)Ggt>Tgt	p.G121C		NM_032048.2	NP_114437.2	Q9BXX0	EMIL2_HUMAN	elastin microfibril interfacer 2	121					cell adhesion	collagen	extracellular matrix constituent conferring elasticity|protein binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4)	48				READ - Rectum adenocarcinoma(2;0.1)		TTGCCAAGAAGGTCCCAAAGA	0.502													19	42					6.33239e-15	8.06005e-15	1	1	0	T	2885065	G	T	2885065	3	4	81	1	0	0	0	0	1	0	0	0	5122	1000	35	4	371	4	EMILIN2	18	2885065	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	122950	2885065	75192183	12830	16446											
LPIN2	9663	broad.mit.edu	37	18	2920358	2920358	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:2920358G>A	ENST00000261596.4	-	20	2862	c.2624C>T	c.(2623-2625)cCg>cTg	p.P875L		NM_014646.2	NP_055461.1	Q92539	LPIN2_HUMAN	lipin 2	875					fatty acid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|triglyceride biosynthetic process	cytosol|endoplasmic reticulum membrane|nucleus	phosphatidate phosphatase activity|transcription coactivator activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	29				READ - Rectum adenocarcinoma(2;0.0419)|Colorectal(6;0.156)		GCTGAACTCCGGGCAGGGAAA	0.577													3	33					0	0	1	0	0	A	2920358	G	A	2920358	3	1	81	1	0	0	0	0	1	0	0	0	8964	1116	39	1	70	1	LPIN2	18	2920358	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	35293	2920358	75156890	12831	16447											
LPIN2	9663	broad.mit.edu	37	18	2921602	2921602	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:2921602G>A	ENST00000261596.4	-	18	2609	c.2371C>T	c.(2371-2373)Cta>Tta	p.L791L	RP11-737O24.5_ENST00000608032.1_RNA	NM_014646.2	NP_055461.1	Q92539	LPIN2_HUMAN	lipin 2	791	C-LIP.				fatty acid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|triglyceride biosynthetic process	cytosol|endoplasmic reticulum membrane|nucleus	phosphatidate phosphatase activity|transcription coactivator activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	29				READ - Rectum adenocarcinoma(2;0.0419)|Colorectal(6;0.156)		ATATCATTTAGACACTCAATT	0.403													4	71					0	0	1	0	0	A	2921602	G	A	2921602	2	1	81	1	0	0	0	0	0	0	0	1	8964	933	33	2		2	LPIN2	18	2921602	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1244	2921602	75155646	12832	16448											
LPIN2	9663	broad.mit.edu	37	18	2940711	2940711	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:2940711C>A	ENST00000261596.4	-	5	829		c.e5-1			NM_014646.2	NP_055461.1	Q92539	LPIN2_HUMAN	lipin 2						fatty acid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|triglyceride biosynthetic process	cytosol|endoplasmic reticulum membrane|nucleus	phosphatidate phosphatase activity|transcription coactivator activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	29				READ - Rectum adenocarcinoma(2;0.0419)|Colorectal(6;0.156)		TGAAGATCCTCTGTGAAGGAG	0.408													10	31					7.48243e-07	8.64403e-07	1	1	0	A	2940711	C	A	2940711	5	1	81	1	0	0	0	0	0	0	1	0	8964	927	32	4	2164	4	LPIN2	18	2940711	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	19109	2940711	75136537	12833	16449											
MYOM1	8736	broad.mit.edu	37	18	3151731	3151731	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:3151731C>T	ENST00000356443.4	-	12	2137	c.1804G>A	c.(1804-1806)Gtg>Atg	p.V602M	MYOM1_ENST00000261606.7_Missense_Mutation_p.V602M|MYOM1_ENST00000400569.3_Missense_Mutation_p.V602M	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN	myomesin 1	602	Fibronectin type-III 1.					striated muscle myosin thick filament	structural constituent of muscle			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						AGAGCAGCCACGGGCTCGGAA	0.433											OREG0024839	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	79					0	0	1	0	0	T	3151731	C	T	3151731	3	4	81	1	0	0	0	0	1	0	0	0	10139	536	19	1	3361	1	MYOM1	18	3151731	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	211020	3151731	74925517	12834	16450											
MYL12B	103910	broad.mit.edu	37	18	3277898	3277898	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:3277898G>A	ENST00000581193.1	+	4	865	c.482G>A	c.(481-483)cGc>cAc	p.R161H	MYL12B_ENST00000237500.5_Missense_Mutation_p.R161H|MYL12B_ENST00000584539.1_Missense_Mutation_p.R161H|MYL12B_ENST00000400175.5_Missense_Mutation_p.R161H	NM_001144945.1	NP_001138417.1	O14950	ML12B_HUMAN	myosin, light chain 12B, regulatory	161	EF-hand 3.				axon guidance|muscle contraction	cytosol|myosin complex	calcium ion binding			breast(1)|large_intestine(1)|lung(2)	4						GAGTTCACACGCATCCTGAAA	0.408													10	22					0	0	1	0	0	A	3277898	G	A	3277898	3	1	81	1	0	0	0	0	1	0	0	0	10094	1087	38	1	492	1	MYL12B	18	3277898	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	126167	3277898	74799350	12835	16451											
TGIF1	7050	broad.mit.edu	37	18	3457843	3457843	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:3457843G>A	ENST00000472042.1	+	2	1648	c.664G>A	c.(664-666)Gac>Aac	p.D222N	TGIF1_ENST00000343820.5_Missense_Mutation_p.D242N|TGIF1_ENST00000401449.1_Missense_Mutation_p.D222N|TGIF1_ENST00000405385.3_Missense_Mutation_p.D222N|TGIF1_ENST00000407501.2_Missense_Mutation_p.D242N|TGIF1_ENST00000551541.1_Missense_Mutation_p.D222N|TGIF1_ENST00000400167.2_Missense_Mutation_p.D222N|TGIF1_ENST00000345133.5_Missense_Mutation_p.D222N|TGIF1_ENST00000330513.5_Missense_Mutation_p.D371N|TGIF1_ENST00000548489.2_Missense_Mutation_p.D256N			Q15583	TGIF1_HUMAN	TGFB-induced factor homeobox 1	371					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			cervix(1)|endometrium(3)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	13	Esophageal squamous(4;0.0859)	Colorectal(8;0.0104)				TACTCCACCGGACCTCAACCA	0.493													24	28					0	0	1	0	0	A	3457843	G	A	3457843	3	1	81	1	0	0	0	0	1	0	0	0	15885	1174	41	2	1203	2	TGIF1	18	3457843	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	179945	3457843	74619405	12836	16452											
DLGAP1	9229	broad.mit.edu	37	18	3582061	3582061	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:3582061G>T	ENST00000315677.3	-	8	2372	c.1777C>A	c.(1777-1779)Ctg>Atg	p.L593M	DLGAP1_ENST00000400147.2_Missense_Mutation_p.L291M|DLGAP1_ENST00000515196.2_Missense_Mutation_p.L593M|DLGAP1_ENST00000534970.1_Missense_Mutation_p.L277M|DLGAP1_ENST00000400150.3_Missense_Mutation_p.L309M|DLGAP1_ENST00000400155.1_Missense_Mutation_p.L299M|DLGAP1_ENST00000400145.2_Missense_Mutation_p.L291M|DLGAP1_ENST00000581527.1_Missense_Mutation_p.L593M|DLGAP1_ENST00000400149.3_Missense_Mutation_p.L283M|DLGAP1_ENST00000581699.1_Missense_Mutation_p.L299M|DLGAP1_ENST00000539435.1_Missense_Mutation_p.L301M|DLGAP1_ENST00000584874.1_Missense_Mutation_p.L593M	NM_004746.3	NP_004737.2	O14490	DLGP1_HUMAN	discs, large (Drosophila) homolog-associated protein 1	593					synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56		Colorectal(8;0.0257)				ATACTGTCCAGGCTCTCGGTG	0.577													31	26					1.39806e-14	1.77612e-14	1	1	0	T	3582061	G	T	3582061	3	4	81	1	0	0	0	0	1	0	0	0	4587	991	35	4	1180	4	DLGAP1	18	3582061	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	124218	3582061	74495187	12837	16453											
DLGAP1	9229	broad.mit.edu	37	18	3729277	3729277	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:3729277C>T	ENST00000315677.3	-	7	2044	c.1449G>A	c.(1447-1449)atG>atA	p.M483I	DLGAP1_ENST00000400147.2_Missense_Mutation_p.M181I|DLGAP1_ENST00000515196.2_Missense_Mutation_p.M483I|DLGAP1_ENST00000534970.1_Missense_Mutation_p.M195I|DLGAP1_ENST00000400150.3_Missense_Mutation_p.M189I|DLGAP1_ENST00000400155.1_Missense_Mutation_p.M189I|DLGAP1_ENST00000400145.2_Missense_Mutation_p.M181I|DLGAP1_ENST00000478161.1_5'UTR|DLGAP1_ENST00000581527.1_Missense_Mutation_p.M483I|DLGAP1_ENST00000400149.3_Missense_Mutation_p.M191I|DLGAP1_ENST00000581699.1_Missense_Mutation_p.M189I|DLGAP1_ENST00000539435.1_Missense_Mutation_p.M181I|DLGAP1_ENST00000584874.1_Missense_Mutation_p.M483I	NM_004746.3	NP_004737.2	O14490	DLGP1_HUMAN	discs, large (Drosophila) homolog-associated protein 1	483					synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56		Colorectal(8;0.0257)				AGCAGCCGGGCATGGGCAGGT	0.652													7	22					0	0	1	0	0	T	3729277	C	T	3729277	3	4	81	1	0	0	0	0	1	0	0	0	4587	710	25	2	1512	2	DLGAP1	18	3729277	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	147216	3729277	74347971	12838	16454											
EPB41L3	23136	broad.mit.edu	37	18	5397138	5397138	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:5397138G>A	ENST00000341928.2	-	18	3100	c.2760C>T	c.(2758-2760)gcC>gcT	p.A920A	EPB41L3_ENST00000542146.1_Silent_p.A225A|EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000544123.1_Silent_p.A751A|EPB41L3_ENST00000400111.3_Silent_p.A698A|EPB41L3_ENST00000427684.2_Silent_p.A217A|EPB41L3_ENST00000342933.3_Silent_p.A920A|EPB41L3_ENST00000540638.2_Silent_p.A698A	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	920	Carboxyl-terminal (CTD).				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						GGGAAGCAGCGGCTGTCTCTT	0.507													6	64					0	0	1	0	0	A	5397138	G	A	5397138	2	1	81	1	0	0	0	0	0	0	0	1	5182	1103	39	1		1	EPB41L3	18	5397138	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1667861	5397138	72680110	12839	16455											
EPB41L3	23136	broad.mit.edu	37	18	5419723	5419723	+	Missense_Mutation	SNP	C	C	T	rs117538203	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:5419723C>T	ENST00000341928.2	-	12	1833	c.1493G>A	c.(1492-1494)cGg>cAg	p.R498Q	EPB41L3_ENST00000542146.1_5'UTR|EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000544123.1_Missense_Mutation_p.R516Q|EPB41L3_ENST00000400111.3_Missense_Mutation_p.R516Q|EPB41L3_ENST00000427684.2_5'UTR|EPB41L3_ENST00000342933.3_Missense_Mutation_p.R498Q|EPB41L3_ENST00000540638.2_Missense_Mutation_p.R516Q	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	498	Hydrophilic.			R -> Q (in Ref. 1; AAC79806).	cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						TCCCTCGTGCCGGATGGCCGA	0.547													29	40					0	0	1	0	0	T	5419723	C	T	5419723	3	4	81	1	0	0	0	0	1	0	0	0	5182	652	23	1	1814	1	EPB41L3	18	5419723	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	22585	5419723	72657525	12840	16456											
ARHGAP28	79822	broad.mit.edu	37	18	6882228	6882229	+	Frame_Shift_Ins	INS	-	-	T	rs80166861	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:6882228_6882229insT	ENST00000419673.2	+	10	1123_1124	c.906_907insT	c.(907-909)tttfs	p.F303fs	ARHGAP28_ENST00000262227.3_Frame_Shift_Ins_p.F410fs|ARHGAP28_ENST00000400091.2_Frame_Shift_Ins_p.F462fs|ARHGAP28_ENST00000314319.3_Frame_Shift_Ins_p.F303fs|ARHGAP28_ENST00000418986.1_Frame_Shift_Ins_p.F303fs|ARHGAP28_ENST00000532996.1_Frame_Shift_Ins_p.F285fs|ARHGAP28_ENST00000531294.1_Frame_Shift_Ins_p.F298fs|ARHGAP28_ENST00000383472.4_Frame_Shift_Ins_p.F462fs	NM_001010000.2	NP_001010000.1	B4DXL2	B4DXL2_HUMAN	Rho GTPase activating protein 28	285					signal transduction	intracellular				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	37		Colorectal(10;0.168)				TGTTGAAAGCGTTTTTCAGAGA	0.391													32	42	---	---	---	---						T	6882229	-	T	6882228	7	5	81	1	0	1	1	0	0	0	0	0	874	1132	40	0	940	0	ARHGAP28	18	6882228	Frame_Shift_Ins	INS	-	TCGA-DU-6392-01A-11D-1705-08	1462505	6882228	71195020	12841	16457											
LAMA1	284217	broad.mit.edu	37	18	6959355	6959355	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:6959355A>G	ENST00000389658.3	-	54	7856	c.7763T>C	c.(7762-7764)tTg>tCg	p.L2588S		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	2588	Laminin G-like 3.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	ATTCCTGACCAAGGAGATGGA	0.582													6	70					0	0	1	0	0	G	6959355	A	G	6959355	3	3	81	1	0	0	0	0	1	0	0	0	8644	131	5	3	1504	3	LAMA1	18	6959355	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	77127	6959355	71117893	12842	16458											
LAMA1	284217	broad.mit.edu	37	18	6961979	6961979	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:6961979T>C	ENST00000389658.3	-	52	7510	c.7417A>G	c.(7417-7419)Aat>Gat	p.N2473D		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	2473	Laminin G-like 2.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CCATAGGAATTTCTGAGTAAG	0.403													30	93					0	0	1	0	0	C	6961979	T	C	6961979	3	2	81	1	0	0	0	0	1	0	0	0	8644	1841	64	3	1858	3	LAMA1	18	6961979	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	2624	6961979	71115269	12843	16459											
LAMA1	284217	broad.mit.edu	37	18	6993675	6993675	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:6993675G>A	ENST00000389658.3	-	35	5066	c.4973C>T	c.(4972-4974)gCc>gTc	p.A1658V		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	1658	Domain II and I.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AATGGCTATGGCCAGGTCTTG	0.453													35	68					0	0	1	0	0	A	6993675	G	A	6993675	3	1	81	1	0	0	0	0	1	0	0	0	8644	1203	42	2	4370	2	LAMA1	18	6993675	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	31696	6993675	71083573	12844	16460											
LAMA1	284217	broad.mit.edu	37	18	7044729	7044729	+	Missense_Mutation	SNP	G	G	A	rs147036555		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:7044729G>A	ENST00000389658.3	-	7	1061	c.968C>T	c.(967-969)aCa>aTa	p.T323I		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	323	Laminin EGF-like 1.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	ACCTTCACATGTATTGCCGGA	0.468													51	75					0	0	1	0	0	A	7044729	G	A	7044729	3	1	81	1	0	0	0	0	1	0	0	0	8644	1377	48	2	8487	2	LAMA1	18	7044729	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	51054	7044729	71032519	12845	16461											
PTPRM	5797	broad.mit.edu	37	18	7888151	7888151	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:7888151G>A	ENST00000332175.8	+	3	1281	c.244G>A	c.(244-246)Gcc>Acc	p.A82T	PTPRM_ENST00000400053.4_Missense_Mutation_p.A20T|PTPRM_ENST00000400060.4_Missense_Mutation_p.A82T|PTPRM_ENST00000580170.1_Missense_Mutation_p.A82T	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	82	MAM.				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				GGGGCAGAGAGCCCACCTGCT	0.458													59	128					0	0	1	0	0	A	7888151	G	A	7888151	3	1	81	1	0	0	0	0	1	0	0	0	12858	971	34	2	254	2	PTPRM	18	7888151	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	843422	7888151	70189097	12846	16462											
PTPRM	5797	broad.mit.edu	37	18	8069839	8069839	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:8069839C>T	ENST00000332175.8	+	8	2325	c.1288C>T	c.(1288-1290)Cga>Tga	p.R430*	PTPRM_ENST00000578571.1_3'UTR|PTPRM_ENST00000400053.4_Nonsense_Mutation_p.R368*|PTPRM_ENST00000444013.1_Nonsense_Mutation_p.R217*|PTPRM_ENST00000400060.4_Nonsense_Mutation_p.R430*|PTPRM_ENST00000580170.1_Nonsense_Mutation_p.R430*	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	430	Fibronectin type-III 2.				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				AGAACAAGTGCGAGAAGAAGT	0.443													8	15					0	0	1	0	0	T	8069839	C	T	8069839	4	4	81	1	0	0	0	0	0	1	0	0	12858	760	27	1	1318	1	PTPRM	18	8069839	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	181688	8069839	70007409	12847	16463											
ANKRD12	23253	broad.mit.edu	37	18	9255390	9255390	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:9255390C>T	ENST00000262126.4	+	9	2365	c.2125C>T	c.(2125-2127)Ctc>Ttc	p.L709F	ANKRD12_ENST00000400020.3_Missense_Mutation_p.L686F|ANKRD12_ENST00000383440.2_Missense_Mutation_p.L686F	NM_015208.4	NP_056023.3	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12							nucleus				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						aaCTGAAGATCTCTTTTTAAA	0.294													11	9					0	0	1	0	0	T	9255390	C	T	9255390	3	4	81	1	0	0	0	0	1	0	0	0	636	913	32	2	2155	2	ANKRD12	18	9255390	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1185551	9255390	68821858	12848	16464											
ANKRD12	23253	broad.mit.edu	37	18	9258860	9258860	+	Silent	SNP	C	C	T	rs149491789	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:9258860C>T	ENST00000262126.4	+	9	5835	c.5595C>T	c.(5593-5595)gaC>gaT	p.D1865D	ANKRD12_ENST00000400020.3_Silent_p.D1842D|ANKRD12_ENST00000383440.2_Silent_p.D1842D	NM_015208.4	NP_056023.3	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12							nucleus				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						AGTACTATGACGAATATGTAA	0.363													34	76					0	0	1	0	0	T	9258860	C	T	9258860	2	4	81	1	0	0	0	0	0	0	0	1	636	535	19	1		1	ANKRD12	18	9258860	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3470	9258860	68818388	12849	16465											
ANKRD12	23253	broad.mit.edu	37	18	9263874	9263874	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:9263874C>T	ENST00000262126.4	+	10	5991	c.5751C>T	c.(5749-5751)caC>caT	p.H1917H	ANKRD12_ENST00000400020.3_Silent_p.H1894H|ANKRD12_ENST00000383440.2_Silent_p.H1894H	NM_015208.4	NP_056023.3	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12							nucleus				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						GTTTGCAACACAGTATTGAAA	0.308													13	19					0	0	1	0	0	T	9263874	C	T	9263874	2	4	81	1	0	0	0	0	0	0	0	1	636	477	17	2		2	ANKRD12	18	9263874	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	5014	9263874	68813374	12850	16466											
RALBP1	10928	broad.mit.edu	37	18	9522280	9522280	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:9522280G>T	ENST00000019317.4	+	4	1049	c.826G>T	c.(826-828)Gag>Tag	p.E276*	RALBP1_ENST00000383432.3_Nonsense_Mutation_p.E276*			Q15311	RBP1_HUMAN	ralA binding protein 1	276	Rho-GAP.				chemotaxis|positive regulation of Cdc42 GTPase activity|small GTPase mediated signal transduction|transport	cytosol|membrane	ATPase activity, coupled to movement of substances|Rac GTPase activator activity|Rac GTPase binding|Ral GTPase binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(3)|upper_aerodigestive_tract(1)	14						AGACCTTCCAGAGAATTTGCT	0.473													7	53					0.000274275	0.000297259	1	1	0	T	9522280	G	T	9522280	4	4	81	1	0	0	0	0	0	1	0	0	13064	943	33	4	836	4	RALBP1	18	9522280	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	258406	9522280	68554968	12851	16467											
RALBP1	10928	broad.mit.edu	37	18	9533376	9533376	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:9533376A>T	ENST00000019317.4	+	8	1722	c.1499A>T	c.(1498-1500)gAg>gTg	p.E500V	RALBP1_ENST00000383432.3_Missense_Mutation_p.E500V			Q15311	RBP1_HUMAN	ralA binding protein 1	500					chemotaxis|positive regulation of Cdc42 GTPase activity|small GTPase mediated signal transduction|transport	cytosol|membrane	ATPase activity, coupled to movement of substances|Rac GTPase activator activity|Rac GTPase binding|Ral GTPase binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(3)|upper_aerodigestive_tract(1)	14						CTGGCCATGGAGCAGTTTCTG	0.473													4	46					0	0	1	0	0	T	9533376	A	T	9533376	3	4	81	1	0	0	0	0	1	0	0	0	13064	304	11	5	1525	5	RALBP1	18	9533376	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	11096	9533376	68543872	12852	16468											
PPP4R1	9989	broad.mit.edu	37	18	9559476	9559476	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:9559476C>T	ENST00000400556.3	-	14	2042	c.1969G>A	c.(1969-1971)Gga>Aga	p.G657R	PPP4R1_ENST00000400555.3_Missense_Mutation_p.G640R	NM_001042388.2	NP_001035847.1	Q8TF05	PP4R1_HUMAN	protein phosphatase 4, regulatory subunit 1	657					protein phosphorylation|signal transduction	protein phosphatase 4 complex	protein binding|protein phosphatase type 4 regulator activity			large_intestine(1)|skin(2)	3						TTCTGTCTTCCGAGTGTCAAG	0.483													101	142					0	0	1	0	0	T	9559476	C	T	9559476	3	4	81	1	0	0	0	0	1	0	0	0	12452	661	23	1	911	1	PPP4R1	18	9559476	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	26100	9559476	68517772	12853	16469											
TXNDC2	84203	broad.mit.edu	37	18	9887909	9887909	+	Missense_Mutation	SNP	C	C	T	rs142043945		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:9887909C>T	ENST00000357775.5	+	2	1467	c.1232C>T	c.(1231-1233)aCg>aTg	p.T411M	TXNDC2_ENST00000306084.6_Missense_Mutation_p.T478M|TXNDC2_ENST00000536353.2_3'UTR	NM_032243.5	NP_115619.4	Q86VQ3	TXND2_HUMAN	thioredoxin domain containing 2 (spermatozoa)		22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I.				cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis	cytoplasm	electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						TTCTCGGCCACGTGGTGTGGG	0.592													5	19					0	0	1	0	0	T	9887909	C	T	9887909	3	4	81	1	0	0	0	0	1	0	0	0	16859	536	19	1	1439	1	TXNDC2	18	9887909	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	328433	9887909	68189339	12854	16470											
NAPG	8774	broad.mit.edu	37	18	10540398	10540398	+	Splice_Site	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:10540398T>C	ENST00000322897.6	+	8	575		c.e8+2		NAPG_ENST00000542979.1_Splice_Site	NM_003826.2	NP_003817.1	Q99747	SNAG_HUMAN	N-ethylmaleimide-sensitive factor attachment protein, gamma						cellular membrane fusion|intra-Golgi vesicle-mediated transport|intracellular protein transport|protein complex assembly|protein stabilization	membrane|membrane fraction|mitochondrion	protein binding			large_intestine(2)|lung(2)	4						AGGACGTAGGTATGTCTTTAA	0.358													29	26					0	0	1	0	0	C	10540398	T	C	10540398	5	2	81	1	0	0	0	0	0	0	1	0	10212	1652	57	3	538	3	NAPG	18	10540398	Splice_Site	SNP	T	TCGA-DU-6392-01A-11D-1705-08	652489	10540398	67536850	12855	16471											
NAPG	8774	broad.mit.edu	37	18	10550152	10550152	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:10550152C>A	ENST00000322897.6	+	12	943	c.874C>A	c.(874-876)Cct>Act	p.P292T	NAPG_ENST00000542979.1_Missense_Mutation_p.P210T	NM_003826.2	NP_003817.1	Q99747	SNAG_HUMAN	N-ethylmaleimide-sensitive factor attachment protein, gamma	292					cellular membrane fusion|intra-Golgi vesicle-mediated transport|intracellular protein transport|protein complex assembly|protein stabilization	membrane|membrane fraction|mitochondrion	protein binding			large_intestine(2)|lung(2)	4						ACAGGCCAAGCCTGATGGTGT	0.478													9	16					1.12685e-05	1.27052e-05	1	1	0	A	10550152	C	A	10550152	3	1	81	1	0	0	0	0	1	0	0	0	10212	739	26	5	920	5	NAPG	18	10550152	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	9754	10550152	67527096	12856	16472											
GNAL	2774	broad.mit.edu	37	18	11872382	11872382	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:11872382A>G	ENST00000334049.6	+	10	1755	c.1147A>G	c.(1147-1149)Act>Gct	p.T383A	GNAL_ENST00000423027.3_Missense_Mutation_p.T306A|GNAL_ENST00000602628.1_Missense_Mutation_p.T99A|GNAL_ENST00000269162.5_Missense_Mutation_p.T306A|GNAL_ENST00000535121.1_Missense_Mutation_p.T306A	NM_182978.3	NP_892023.1	P38405	GNAL_HUMAN	guanine nucleotide binding protein (G protein), alpha activating activity polypeptide, olfactory type	306					activation of adenylate cyclase activity by dopamine receptor signaling pathway|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception of smell|synaptic transmission	heterotrimeric G-protein complex	adenylate cyclase activity|G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(4)|ovary(1)	12						TGCAAATTATACTGTTCCTGA	0.323													9	73					0	0	1	0	0	G	11872382	A	G	11872382	3	3	81	1	0	0	0	0	1	0	0	0	6549	391	14	3	1334	3	GNAL	18	11872382	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	1322230	11872382	66204866	12857	16473											
MPPE1	65258	broad.mit.edu	37	18	11886499	11886499	+	Splice_Site	DEL	T	T	-			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:11886499delT	ENST00000588072.1	-	9	2087	c.866delA	c.(865-867)aag>ag	p.K289fs	MPPE1_ENST00000399978.2_Splice_Site_p.K290fs|MPPE1_ENST00000317235.7_Intron|MPPE1_ENST00000309976.9_Intron|MPPE1_ENST00000344987.7_Splice_Site_p.K267fs	NM_023075.5	NP_075563.3	Q53F39	MPPE1_HUMAN	metallophosphoesterase 1	289					ER to Golgi vesicle-mediated transport|GPI anchor biosynthetic process	cis-Golgi network|endoplasmic reticulum exit site|ER-Golgi intermediate compartment membrane|integral to membrane	GPI anchor binding|manganese ion binding|phosphoric diester hydrolase activity			endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	5						CTGGCAAACCTTTTGTGATGC	0.502													7	96	---	---	---	---						-	11886499	T	-	11886499	8	5	81	1	0	1	0	1	0	0	1	0	9789	1623	56	0	336	0	MPPE1	18	11886499	Splice_Site	DEL	T	TCGA-DU-6392-01A-11D-1705-08	14117	11886499	66190749	12858	16474											
TUBB6	84617	broad.mit.edu	37	18	12325589	12325589	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:12325589G>A	ENST00000317702.5	+	4	1035	c.801G>A	c.(799-801)atG>atA	p.M267I	TUBB6_ENST00000591208.1_3'UTR|TUBB6_ENST00000591909.1_Intron|TUBB6_ENST00000590967.1_Intron			Q9BUF5	TBB6_HUMAN	tubulin, beta 6 class V	267					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)	14				READ - Rectum adenocarcinoma(1;0.0649)		ACTTCTTCATGCCTGGCTTCG	0.672													10	18					0	0	1	0	0	A	12325589	G	A	12325589	3	1	81	1	0	0	0	0	1	0	0	0	16822	1319	46	2	815	2	TUBB6	18	12325589	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	439090	12325589	65751659	12859	16475											
AFG3L2	10939	broad.mit.edu	37	18	12358835	12358835	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:12358835C>T	ENST00000269143.3	-	8	1091	c.860G>A	c.(859-861)gGa>gAa	p.G287E		NM_006796.2	NP_006787.2	Q9Y4W6	AFG32_HUMAN	AFG3-like AAA ATPase 2	287					cell death|protein catabolic process|proteolysis	integral to membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding			NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|prostate(3)|skin(1)|stomach(3)|urinary_tract(1)	27					Adenosine triphosphate(DB00171)	ACTGAAGAGTCCGCCCATCCC	0.547													19	29					0	0	1	0	0	T	12358835	C	T	12358835	3	4	81	1	0	0	0	0	1	0	0	0	359	855	30	2	1573	2	AFG3L2	18	12358835	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	33246	12358835	65718413	12860	16476											
SLMO1	10650	broad.mit.edu	37	18	12429359	12429359	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:12429359C>A	ENST00000592149.1	+	5	836	c.413C>A	c.(412-414)gCt>gAt	p.A138D	SLMO1_ENST00000440960.1_Missense_Mutation_p.A159D|SLMO1_ENST00000336990.4_Missense_Mutation_p.A159D|SLMO1_ENST00000590956.1_Missense_Mutation_p.A69D|SLMO1_ENST00000587735.1_Missense_Mutation_p.A69D			Q96N28	SLMO1_HUMAN	slowmo homolog 1 (Drosophila)	159	PRELI/MSF1.									endometrium(1)	1						GGGTGGGCTGCTATCGAGTGG	0.527													16	17					1.15919e-05	1.30633e-05	1	1	0	A	12429359	C	A	12429359	3	1	81	1	0	0	0	0	1	0	0	0	14804	797	28	4	498	4	SLMO1	18	12429359	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	70524	12429359	65647889	12861	16477											
PTPN2	5771	broad.mit.edu	37	18	12840713	12840713	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:12840713C>A	ENST00000591497.1	-	2	325	c.73G>T	c.(73-75)Gat>Tat	p.D25Y	PTPN2_ENST00000327283.3_Intron|PTPN2_ENST00000309660.5_Intron|PTPN2_ENST00000353319.4_Intron|PTPN2_ENST00000589086.1_Intron|PTPN2_ENST00000591115.1_Intron			P17706	PTN2_HUMAN	protein tyrosine phosphatase, non-receptor type 2	0	Tyrosine-protein phosphatase.				interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway	endoplasmic reticulum|nucleoplasm	protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|prostate(1)|skin(3)	13		Lung NSC(161;8.94e-06)				AAGAGATTACCTATTTCCTGC	0.423													7	32					0.27861	0.279815	1	1	0	A	12840713	C	A	12840713	5	1	81	1	0	0	0	0	0	0	1	0	12835	696	24	4		4	PTPN2	18	12840713	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	411354	12840713	65236535	12862	16478											
SEH1L	81929	broad.mit.edu	37	18	12948202	12948202	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:12948202G>A	ENST00000262124.11	+	1	209	c.82G>A	c.(82-84)Gca>Aca	p.A28T	SEH1L_ENST00000399892.2_Missense_Mutation_p.A28T	NM_031216.3	NP_112493.2	Q96EE3	SEH1_HUMAN	SEH1-like (S. cerevisiae)	28					attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|carbohydrate metabolic process|cell division|glucose transport|mitotic metaphase plate congression|mitotic prometaphase|mRNA transport|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	11						GCGGCGGATGGCAACCTGCTC	0.677													11	13					0	0	1	0	0	A	12948202	G	A	12948202	3	1	81	1	0	0	0	0	1	0	0	0	14063	1203	42	2	84	2	SEH1L	18	12948202	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	107489	12948202	65129046	12863	16479											
SEH1L	81929	broad.mit.edu	37	18	12951898	12951898	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:12951898C>A	ENST00000262124.11	+	2	283	c.156C>A	c.(154-156)agC>agA	p.S52R	SEH1L_ENST00000399892.2_Missense_Mutation_p.S52R	NM_031216.3	NP_112493.2	Q96EE3	SEH1_HUMAN	SEH1-like (S. cerevisiae)	52					attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|carbohydrate metabolic process|cell division|glucose transport|mitotic metaphase plate congression|mitotic prometaphase|mRNA transport|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	11						GTACTGCTAGCTGGAAGGTTA	0.244													9	96					1.58986e-06	1.82794e-06	1	1	0	A	12951898	C	A	12951898	3	1	81	1	0	0	0	0	1	0	0	0	14063	796	28	4	162	4	SEH1L	18	12951898	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3696	12951898	65125350	12864	16480											
CEP192	55125	broad.mit.edu	37	18	13052933	13052933	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:13052933C>A	ENST00000506447.1	+	18	3113	c.3033C>A	c.(3031-3033)tcC>tcA	p.S1011S	CEP192_ENST00000430049.2_Silent_p.S536S|CEP192_ENST00000325971.8_Silent_p.S415S	NM_032142.3	NP_115518.3	B7ZMF0	B7ZMF0_HUMAN	centrosomal protein 192kDa	606										NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						CGTTAGAGTCCTTTGGTTCAG	0.527													19	162					2.70639e-06	3.09322e-06	1	1	0	A	13052933	C	A	13052933	2	1	81	1	0	0	0	0	0	0	0	1	3273	668	24	4		4	CEP192	18	13052933	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	101035	13052933	65024315	12865	16481											
CEP192	55125	broad.mit.edu	37	18	13056133	13056133	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:13056133G>T	ENST00000506447.1	+	19	3624	c.3544G>T	c.(3544-3546)Gcc>Tcc	p.A1182S	CEP192_ENST00000430049.2_Missense_Mutation_p.A707S|CEP192_ENST00000325971.8_Missense_Mutation_p.A586S	NM_032142.3	NP_115518.3	B7ZMF0	B7ZMF0_HUMAN	centrosomal protein 192kDa	777										NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						GGTGGGGTCAGCCACATCACA	0.532													15	27					2.23348e-06	2.55658e-06	1	1	0	T	13056133	G	T	13056133	3	4	81	1	0	0	0	0	1	0	0	0	3273	971	34	4	3614	4	CEP192	18	13056133	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	3200	13056133	65021115	12866	16482											
CEP192	55125	broad.mit.edu	37	18	13056632	13056632	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:13056632C>A	ENST00000506447.1	+	19	4123	c.4043C>A	c.(4042-4044)cCt>cAt	p.P1348H	CEP192_ENST00000430049.2_Missense_Mutation_p.P873H|CEP192_ENST00000325971.8_Missense_Mutation_p.P752H	NM_032142.3	NP_115518.3	B7ZMF0	B7ZMF0_HUMAN	centrosomal protein 192kDa	943										NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						AAACCTTTTCCTGTGCCGTCT	0.413													76	102					1.10181e-30	1.46984e-30	1	1	0	A	13056632	C	A	13056632	3	1	81	1	0	0	0	0	1	0	0	0	3273	681	24	4	4113	4	CEP192	18	13056632	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	499	13056632	65020616	12867	16483											
CEP192	55125	broad.mit.edu	37	18	13095650	13095650	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:13095650G>T	ENST00000506447.1	+	35	6483	c.6403G>T	c.(6403-6405)Gag>Tag	p.E2135*	CEP192_ENST00000540847.2_3'UTR|CEP192_ENST00000430049.2_Nonsense_Mutation_p.E1660*|CEP192_ENST00000325971.8_Nonsense_Mutation_p.E1539*	NM_032142.3	NP_115518.3	B7ZMF0	B7ZMF0_HUMAN	centrosomal protein 192kDa	1730										NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						TGTCCTACCCGAGCACTTGAT	0.587													24	55					1.1804e-14	1.50034e-14	1	1	0	T	13095650	G	T	13095650	4	4	81	1	0	0	0	0	0	1	0	0	3273	1059	37	5	6537	5	CEP192	18	13095650	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	39018	13095650	64981598	12868	16484											
CEP192	55125	broad.mit.edu	37	18	13103524	13103524	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:13103524C>T	ENST00000506447.1	+	39	6968	c.6888C>T	c.(6886-6888)ctC>ctT	p.L2296L	CEP192_ENST00000540847.2_3'UTR|CEP192_ENST00000430049.2_Silent_p.L1821L|CEP192_ENST00000325971.8_Silent_p.L1700L	NM_032142.3	NP_115518.3	B7ZMF0	B7ZMF0_HUMAN	centrosomal protein 192kDa	1891										NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						GTCTAGAACTCGAGAATCATG	0.433													8	77					0	0	1	0	0	T	13103524	C	T	13103524	2	4	81	1	0	0	0	0	0	0	0	1	3273	871	31	1		1	CEP192	18	13103524	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	7874	13103524	64973724	12869	16485											
CEP192	55125	broad.mit.edu	37	18	13103558	13103558	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:13103558C>A	ENST00000506447.1	+	39	7002	c.6922C>A	c.(6922-6924)Ctg>Atg	p.L2308M	CEP192_ENST00000540847.2_3'UTR|CEP192_ENST00000430049.2_Missense_Mutation_p.L1833M|CEP192_ENST00000325971.8_Missense_Mutation_p.L1712M	NM_032142.3	NP_115518.3	B7ZMF0	B7ZMF0_HUMAN	centrosomal protein 192kDa	1903										NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						GAAATGGCATCTGTCATCTTT	0.408													28	58					1.34939e-06	1.55639e-06	1	1	0	A	13103558	C	A	13103558	3	1	81	1	0	0	0	0	1	0	0	0	3273	912	32	4	7072	4	CEP192	18	13103558	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	34	13103558	64973690	12870	16486											
MC5R	4161	broad.mit.edu	37	18	13826657	13826657	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:13826657G>A	ENST00000324750.3	+	1	1115	c.893G>A	c.(892-894)cGc>cAc	p.R298H		NM_005913.2	NP_005904.1	P33032	MC5R_HUMAN	melanocortin 5 receptor	298					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocortin receptor activity|protein binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|upper_aerodigestive_tract(1)	41						TATGCCTTCCGCAGCCAAGAG	0.478													50	75					0	0	1	0	0	A	13826657	G	A	13826657	3	1	81	1	0	0	0	0	1	0	0	0	9417	1087	38	1	895	1	MC5R	18	13826657	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	723099	13826657	64250591	12871	16487											
MC2R	4158	broad.mit.edu	37	18	13884765	13884765	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:13884765G>A	ENST00000327606.3	-	2	933	c.753C>T	c.(751-753)tgC>tgT	p.C251C		NM_000529.2	NP_000520.1	Q01718	ACTHR_HUMAN	melanocortin 2 receptor (adrenocorticotropic hormone)	251			C -> F (in GCCD1).		G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	corticotropin receptor activity|protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(8)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30					Corticotropin(DB01285)|Cosyntropin(DB01284)	TGTAGCAGGCGCAGTAGGGGT	0.542													18	40					0	0	1	0	0	A	13884765	G	A	13884765	2	1	81	1	0	0	0	0	0	0	0	1	9414	1079	38	1		1	MC2R	18	13884765	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	58108	13884765	64192483	12872	16488											
ROCK1	6093	broad.mit.edu	37	18	18546978	18546978	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:18546978C>T	ENST00000399799.2	-	27	4192	c.3252G>A	c.(3250-3252)gaG>gaA	p.E1084E		NM_005406.2	NP_005397.1	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein kinase 1						actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction	centriole|cytosol|Golgi membrane	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16	Melanoma(1;0.165)					CAATATCACTCTCTTTGCTGG	0.388													6	125					0	0	1	0	0	T	18546978	C	T	18546978	2	4	81	1	0	0	0	0	0	0	0	1	13569	912	32	2		2	ROCK1	18	18546978	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	4662213	18546978	59530270	12873	16489											
ROCK1	6093	broad.mit.edu	37	18	18586428	18586428	+	Missense_Mutation	SNP	C	C	T	rs141266099		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:18586428C>T	ENST00000399799.2	-	16	2709	c.1769G>A	c.(1768-1770)cGa>cAa	p.R590Q		NM_005406.2	NP_005397.1	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein kinase 1		Interaction with FHOD1.				actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction	centriole|cytosol|Golgi membrane	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16	Melanoma(1;0.165)					CTCTAAAATTCGATTTCTCTC	0.403													6	124					0	0	1	0	0	T	18586428	C	T	18586428	3	4	81	1	0	0	0	0	1	0	0	0	13569	884	31	1	2367	1	ROCK1	18	18586428	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	39450	18586428	59490820	12874	16490											
ROCK1	6093	broad.mit.edu	37	18	18622660	18622660	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:18622660A>G	ENST00000399799.2	-	7	1626	c.686T>C	c.(685-687)gTa>gCa	p.V229A		NM_005406.2	NP_005397.1	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein kinase 1		Protein kinase.				actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction	centriole|cytosol|Golgi membrane	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16	Melanoma(1;0.165)					ATCACATCGTACCATGCCTTC	0.373													4	56					0	0	1	0	0	G	18622660	A	G	18622660	3	3	81	1	0	0	0	0	1	0	0	0	13569	391	14	3	3486	3	ROCK1	18	18622660	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	36232	18622660	59454588	12875	16491											
ESCO1	114799	broad.mit.edu	37	18	19153731	19153731	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:19153731C>T	ENST00000269214.5	-	4	2011	c.1074G>A	c.(1072-1074)caG>caA	p.Q358Q		NM_052911.2	NP_443143.2	Q5FWF5	ESCO1_HUMAN	establishment of sister chromatid cohesion N-acetyltransferase 1	358					cell cycle|post-translational protein acetylation|regulation of DNA replication	chromatin|nucleus	acyltransferase activity|metal ion binding			breast(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(10)|prostate(3)|upper_aerodigestive_tract(1)	35						ATTGCACATCCTGATTTGTTT	0.363													10	130					0	0	1	0	0	T	19153731	C	T	19153731	2	4	81	1	0	0	0	0	0	0	0	1	5276	680	24	2		2	ESCO1	18	19153731	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	531071	19153731	58923517	12876	16492											
MIB1	57534	broad.mit.edu	37	18	19426999	19426999	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:19426999G>A	ENST00000261537.6	+	16	2570	c.2306G>A	c.(2305-2307)cGa>cAa	p.R769Q	MIB1_ENST00000578646.1_3'UTR	NM_020774.2	NP_065825.1	Q86YT6	MIB1_HUMAN	mindbomb E3 ubiquitin protein ligase 1	769					Notch signaling pathway	centrosome|nuclear membrane|plasma membrane	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|ovary(5)	27			STAD - Stomach adenocarcinoma(5;0.212)			CTGAGCATTCGAAATAAGAAG	0.453													20	30					0	0	1	0	0	A	19426999	G	A	19426999	3	1	81	1	0	0	0	0	1	0	0	0	9615	1058	37	1	2368	1	MIB1	18	19426999	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	273268	19426999	58650249	12877	16493											
GATA6	2627	broad.mit.edu	37	18	19751405	19751405	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:19751405G>A	ENST00000269216.3	+	2	577	c.300G>A	c.(298-300)gcG>gcA	p.A100A	GATA6_ENST00000581694.1_Silent_p.A100A	NM_005257.4	NP_005248.2	Q92908	GATA6_HUMAN	GATA binding protein 6	100					blood coagulation|cardiac vascular smooth muscle cell differentiation|cellular response to hypoxia|intestinal epithelial cell differentiation|male gonad development|negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor-beta1 production|negative regulation of transforming growth factor-beta2 production|outflow tract septum morphogenesis|positive regulation of angiogenesis|positive regulation of cell cycle arrest|positive regulation of transcription from RNA polymerase II promoter|response to drug|response to growth factor stimulus		protein binding|protein kinase binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	18	all_cancers(21;0.00271)|all_epithelial(16;7.31e-05)|Ovarian(2;0.116)|Lung NSC(20;0.123)|all_lung(20;0.246)		STAD - Stomach adenocarcinoma(5;0.106)			CTGGGGTCGCGGGCCCCGGGG	0.731													6	8					0	0	1	0	0	A	19751405	G	A	19751405	2	1	81	1	0	0	0	0	0	0	0	1	6298	1103	39	1		1	GATA6	18	19751405	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	324406	19751405	58325843	12878	16494											
RBBP8	5932	broad.mit.edu	37	18	20576405	20576405	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:20576405G>A	ENST00000399722.2	+	13	2359	c.2008G>A	c.(2008-2010)Gtt>Att	p.V670I	RBBP8_ENST00000399725.2_Missense_Mutation_p.V670I|RBBP8_ENST00000327155.5_Missense_Mutation_p.V670I|RBBP8_ENST00000360790.5_Missense_Mutation_p.V670I	NM_203291.1	NP_976036.1	Q99708	COM1_HUMAN	retinoblastoma binding protein 8	670					cell cycle checkpoint|DNA double-strand break processing involved in repair via single-strand annealing|meiosis|regulation of transcription from RNA polymerase II promoter	nucleus	damaged DNA binding|protein binding|single-stranded DNA specific endodeoxyribonuclease activity			central_nervous_system(1)|cervix(2)|endometrium(5)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	24	all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19)		OV - Ovarian serous cystadenocarcinoma(1;0.00196)			TAAAATGGATGTTACTGTAAT	0.353								Homologous recombination					5	45					0	0	1	0	0	A	20576405	G	A	20576405	3	1	81	1	0	0	0	0	1	0	0	0	13157	1377	48	2	2054	2	RBBP8	18	20576405	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	825000	20576405	57500843	12879	16495											
CABLES1	91768	broad.mit.edu	37	18	20837319	20837319	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:20837319C>T	ENST00000256925.7	+	10	1890	c.1890C>T	c.(1888-1890)gtC>gtT	p.V630V	CABLES1_ENST00000585061.1_Intron|TMEM241_ENST00000450466.2_Intron|CABLES1_ENST00000400473.2_Silent_p.V303V|CABLES1_ENST00000420687.2_Silent_p.V365V|RP11-17J14.2_ENST00000585184.1_RNA	NM_001100619.2	NP_001094089.1	Q8TDN4	CABL1_HUMAN	Cdk5 and Abl enzyme substrate 1	630					blood coagulation|cell cycle|cell division|regulation of cell cycle|regulation of cell division	cytosol|nucleus	cyclin-dependent protein kinase regulator activity|protein binding			breast(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|stomach(1)	11	all_cancers(21;0.000102)|all_epithelial(16;2.48e-06)|Lung NSC(20;0.00696)|all_lung(20;0.0197)|Colorectal(14;0.0202)|Ovarian(20;0.127)					GACGGCTGGTCCAGAGTTCCT	0.532													20	21					0	0	1	0	0	T	20837319	C	T	20837319	2	4	81	1	0	0	0	0	0	0	0	1	2547	842	30	2		2	CABLES1	18	20837319	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	260914	20837319	57239929	12880	16496											
RIOK3	8780	broad.mit.edu	37	18	21044578	21044578	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:21044578G>A	ENST00000339486.3	+	5	1146	c.529G>A	c.(529-531)Gca>Aca	p.A177T	RIOK3_ENST00000581585.1_Missense_Mutation_p.A161T|RIOK3_ENST00000577501.1_Missense_Mutation_p.A177T	NM_003831.3	NP_003822.2	O14730	RIOK3_HUMAN	RIO kinase 3	177					chromosome segregation		ATP binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(3)|ovary(2)	10	all_cancers(21;0.000106)|all_epithelial(16;6.74e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0202)|Ovarian(20;0.127)					AAAGAACACAGCAAGAATGGA	0.333													6	30					0	0	1	0	0	A	21044578	G	A	21044578	3	1	81	1	0	0	0	0	1	0	0	0	13431	971	34	2	547	2	RIOK3	18	21044578	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	207259	21044578	57032670	12881	16497											
RIOK3	8780	broad.mit.edu	37	18	21053408	21053408	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:21053408G>T	ENST00000339486.3	+	8	1448	c.831G>T	c.(829-831)aaG>aaT	p.K277N	RIOK3_ENST00000581585.1_Missense_Mutation_p.K261N|RIOK3_ENST00000577501.1_Missense_Mutation_p.K277N	NM_003831.3	NP_003822.2	O14730	RIOK3_HUMAN	RIO kinase 3	277	Protein kinase.				chromosome segregation		ATP binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(3)|ovary(2)	10	all_cancers(21;0.000106)|all_epithelial(16;6.74e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0202)|Ovarian(20;0.127)					AGGATGAAAAGGAAGATAGTA	0.308													4	29					4.096e-09	4.9227e-09	1	1	0	T	21053408	G	T	21053408	3	4	81	1	0	0	0	0	1	0	0	0	13431	991	35	4	861	4	RIOK3	18	21053408	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	8830	21053408	57023840	12882	16498											
RIOK3	8780	broad.mit.edu	37	18	21054957	21054957	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:21054957G>A	ENST00000339486.3	+	9	1676	c.1059G>A	c.(1057-1059)aaG>aaA	p.K353K	RIOK3_ENST00000581585.1_Silent_p.K337K|RIOK3_ENST00000577501.1_Silent_p.K353K	NM_003831.3	NP_003822.2	O14730	RIOK3_HUMAN	RIO kinase 3	353	Protein kinase.				chromosome segregation		ATP binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(3)|ovary(2)	10	all_cancers(21;0.000106)|all_epithelial(16;6.74e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0202)|Ovarian(20;0.127)					TACTACTGAAGAAACACATTT	0.343													4	65					0	0	1	0	0	A	21054957	G	A	21054957	2	1	81	1	0	0	0	0	0	0	0	1	13431	933	33	2		2	RIOK3	18	21054957	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1549	21054957	57022291	12883	16499											
C18orf8	29919	broad.mit.edu	37	18	21083594	21083594	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:21083594G>T	ENST00000269221.3	+	1	122	c.12G>T	c.(10-12)gaG>gaT	p.E4D	C18orf8_ENST00000590868.1_Missense_Mutation_p.E4D	NM_013326.3	NP_037458.3	Q96DM3	MIC1_HUMAN	chromosome 18 open reading frame 8	4										endometrium(9)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	21	all_cancers(21;0.000122)|all_epithelial(16;8.08e-07)|Lung NSC(20;0.00206)|all_lung(20;0.00659)|Colorectal(14;0.0202)|Ovarian(20;0.127)					TGGGCGAGGAGGACTACTATC	0.716													5	25					0.000274275	0.000297259	1	1	0	T	21083594	G	T	21083594	3	4	81	1	0	0	0	0	1	0	0	0	1919	991	35	4	14	4	C18orf8	18	21083594	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	28637	21083594	56993654	12884	16500											
C18orf8	29919	broad.mit.edu	37	18	21095831	21095831	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:21095831G>T	ENST00000269221.3	+	6	530	c.420G>T	c.(418-420)gaG>gaT	p.E140D	C18orf8_ENST00000590868.1_Missense_Mutation_p.E92D	NM_013326.3	NP_037458.3	Q96DM3	MIC1_HUMAN	chromosome 18 open reading frame 8	140										endometrium(9)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	21	all_cancers(21;0.000122)|all_epithelial(16;8.08e-07)|Lung NSC(20;0.00206)|all_lung(20;0.00659)|Colorectal(14;0.0202)|Ovarian(20;0.127)					TATTACCAGAGAAACGGAGTC	0.478											OREG0024894	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	26	63					9.57634e-11	1.17731e-10	1	1	0	T	21095831	G	T	21095831	3	4	81	1	0	0	0	0	1	0	0	0	1919	933	33	4	442	4	C18orf8	18	21095831	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	12237	21095831	56981417	12885	16501											
NPC1	4864	broad.mit.edu	37	18	21116710	21116710	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:21116710C>T	ENST00000269228.5	-	21	3726	c.3172G>A	c.(3172-3174)Gcc>Acc	p.A1058T	NPC1_ENST00000412552.2_Missense_Mutation_p.A740T	NM_000271.4	NP_000262.2	O15118	NPC1_HUMAN	Niemann-Pick disease, type C1	1058					autophagy|bile acid metabolic process|cholesterol efflux|cholesterol homeostasis|lysosomal transport	endoplasmic reticulum|integral to plasma membrane|late endosome membrane|lysosomal membrane|nuclear envelope|perinuclear region of cytoplasm	hedgehog receptor activity|protein binding|sterol transporter activity			breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1)	38	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)					ATAAGTCGGGCTTTCTTCAGA	0.522													11	27					0	0	1	0	0	T	21116710	C	T	21116710	3	4	81	1	0	0	0	0	1	0	0	0	10617	797	28	2	684	2	NPC1	18	21116710	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	20879	21116710	56960538	12886	16502											
ANKRD29	147463	broad.mit.edu	37	18	21209871	21209871	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:21209871C>A	ENST00000592179.1	-	6	628	c.474G>T	c.(472-474)ttG>ttT	p.L158F	ANKRD29_ENST00000284207.7_Missense_Mutation_p.L158F|ANKRD29_ENST00000322980.9_Missense_Mutation_p.L158F	NM_173505.2	NP_775776.2	Q8N6D5	ANR29_HUMAN	ankyrin repeat domain 29	158										breast(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|skin(1)	13	all_cancers(21;5.07e-05)|all_epithelial(16;2.49e-07)|Lung NSC(20;0.00211)|all_lung(20;0.00676)|Colorectal(14;0.0202)|Ovarian(20;0.127)					GAATAACATCCAAGTAACCAC	0.453													8	19					0.000274275	0.000297259	1	1	0	A	21209871	C	A	21209871	3	1	81	1	0	0	0	0	1	0	0	0	653	593	21	5	451	5	ANKRD29	18	21209871	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	93161	21209871	56867377	12887	16503											
LAMA3	3909	broad.mit.edu	37	18	21487720	21487720	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:21487720G>A	ENST00000313654.9	+	54	7077	c.6836G>A	c.(6835-6837)gGt>gAt	p.G2279D	LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000587184.1_Splice_Site_p.G614D|LAMA3_ENST00000399516.3_Splice_Site_p.G2223D|LAMA3_ENST00000269217.6_Splice_Site_p.G670D	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	2279	Domain II and I.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TGTGCATTAGGTGATATTGAT	0.443													48	75					0	0	1	0	0	A	21487720	G	A	21487720	5	1	81	1	0	0	0	0	0	0	1	0	8646	1275	44	2	7225	2	LAMA3	18	21487720	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	277849	21487720	56589528	12888	16504											
LAMA3	3909	broad.mit.edu	37	18	21492725	21492725	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:21492725G>A	ENST00000313654.9	+	56	7450	c.7209G>A	c.(7207-7209)ctG>ctA	p.L2403L	LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000587184.1_Silent_p.L738L|LAMA3_ENST00000399516.3_Silent_p.L2347L|LAMA3_ENST00000269217.6_Silent_p.L794L	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	2403	Laminin G-like 1.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AAGTCCGACTGCCAAATGACC	0.438													23	42					0	0	1	0	0	A	21492725	G	A	21492725	2	1	81	1	0	0	0	0	0	0	0	1	8646	1306	46	2		2	LAMA3	18	21492725	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	5005	21492725	56584523	12889	16505											
LAMA3	3909	broad.mit.edu	37	18	21508203	21508203	+	Splice_Site	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:21508203A>G	ENST00000313654.9	+	63	8535	c.8294A>G	c.(8293-8295)aAg>aGg	p.K2765R	LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000587184.1_Splice_Site_p.K1100R|LAMA3_ENST00000399516.3_Splice_Site_p.K2709R|LAMA3_ENST00000269217.6_Splice_Site_p.K1156R	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	2765					cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GAAGACTGGAAGGTAAGTGAA	0.453													3	24					0	0	1	0	0	G	21508203	A	G	21508203	5	3	81	1	0	0	0	0	0	0	1	0	8646	86	3	3	8719	3	LAMA3	18	21508203	Splice_Site	SNP	A	TCGA-DU-6392-01A-11D-1705-08	15478	21508203	56569045	12890	16506											
CABYR	26256	broad.mit.edu	37	18	21739839	21739839	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:21739839T>C	ENST00000399496.3	+	5	1110	c.945T>C	c.(943-945)gcT>gcC	p.A315A	CABYR_ENST00000415309.2_Intron|CABYR_ENST00000399499.1_Silent_p.A315A|CABYR_ENST00000327201.6_Silent_p.A217A|CABYR_ENST00000581397.1_Silent_p.A315A|RP11-799B12.4_ENST00000583267.1_lincRNA	NM_012189.2|NM_153769.1	NP_036321.2|NP_722453.1	O75952	CABYR_HUMAN	calcium binding tyrosine-(Y)-phosphorylation regulated	0					ciliary or flagellar motility|signal transduction|sperm capacitation	cytoplasm|cytoskeleton|flagellum|motile cilium|nucleus	calcium ion binding|cAMP-dependent protein kinase regulator activity|enzyme binding|protein heterodimerization activity|SH3 domain binding			breast(1)|endometrium(2)|large_intestine(4)|lung(4)	11	all_cancers(21;9.13e-05)|all_epithelial(16;5.49e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0305)|Ovarian(20;0.17)					CCCAGAATGCTAATCCTCCAA	0.438													8	136					0	0	1	0	0	C	21739839	T	C	21739839	2	2	81	1	0	0	0	0	0	0	0	1	2554	1509	53	3		3	CABYR	18	21739839	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	231636	21739839	56337409	12891	16507											
OSBPL1A	114876	broad.mit.edu	37	18	21745032	21745032	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:21745032G>A	ENST00000319481.3	-	27	2953	c.2747C>T	c.(2746-2748)aCg>aTg	p.T916M	OSBPL1A_ENST00000357041.4_Missense_Mutation_p.T534M|OSBPL1A_ENST00000399443.3_Missense_Mutation_p.T403M	NM_080597.3	NP_542164.2	Q9BXW6	OSBL1_HUMAN	oxysterol binding protein-like 1A	916					cholesterol metabolic process|lipid transport|vesicle-mediated transport		phospholipid binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)					CACGCACCTCGTCTTCCAGTC	0.532													84	97					0	0	1	0	0	A	21745032	G	A	21745032	3	1	81	1	0	0	0	0	1	0	0	0	11324	1145	40	1	113	1	OSBPL1A	18	21745032	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	5193	21745032	56332216	12892	16508											
OSBPL1A	114876	broad.mit.edu	37	18	21946860	21946860	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:21946860C>T	ENST00000319481.3	-	4	484	c.278G>A	c.(277-279)cGa>cAa	p.R93Q	OSBPL1A_ENST00000399441.4_Missense_Mutation_p.R93Q|RP11-621L6.2_ENST00000579347.1_RNA|OSBPL1A_ENST00000582618.1_5'UTR	NM_080597.3	NP_542164.2	Q9BXW6	OSBL1_HUMAN	oxysterol binding protein-like 1A	93					cholesterol metabolic process|lipid transport|vesicle-mediated transport		phospholipid binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)					TTTCACCTTTCGTCCTGTAAA	0.418													17	47					0	0	1	0	0	T	21946860	C	T	21946860	3	4	81	1	0	0	0	0	1	0	0	0	11324	884	31	1	2674	1	OSBPL1A	18	21946860	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	201828	21946860	56130388	12893	16509											
OSBPL1A	114876	broad.mit.edu	37	18	21957415	21957415	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:21957415A>G	ENST00000319481.3	-	2	289	c.83T>C	c.(82-84)aTg>aCg	p.M28T	OSBPL1A_ENST00000399441.4_Missense_Mutation_p.M28T|OSBPL1A_ENST00000582618.1_5'UTR	NM_080597.3	NP_542164.2	Q9BXW6	OSBL1_HUMAN	oxysterol binding protein-like 1A	28					cholesterol metabolic process|lipid transport|vesicle-mediated transport		phospholipid binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)					ATTCCTCGCCATGGTCTCTAA	0.373													16	39					0	0	1	0	0	G	21957415	A	G	21957415	3	3	81	1	0	0	0	0	1	0	0	0	11324	217	8	3	2877	3	OSBPL1A	18	21957415	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	10555	21957415	56119833	12894	16510											
IMPACT	55364	broad.mit.edu	37	18	22020582	22020582	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:22020582G>T	ENST00000284202.4	+	6	631	c.490G>T	c.(490-492)Gaa>Taa	p.E164*		NM_018439.3	NP_060909	Q9P2X3	IMPCT_HUMAN	impact RWD domain protein	164										endometrium(1)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(2)	16	all_cancers(21;0.00018)|all_epithelial(16;1.5e-06)|Lung NSC(20;0.0027)|all_lung(20;0.0085)|Colorectal(14;0.0361)|Ovarian(20;0.0991)					AACTCGGACAGGTATAATGTT	0.343													7	152					2.0095e-06	2.30238e-06	1	1	0	T	22020582	G	T	22020582	5	4	81	1	0	0	0	0	0	0	1	0	7768	1014	35	4	512	4	IMPACT	18	22020582	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	63167	22020582	56056666	12895	16511											
ZNF521	25925	broad.mit.edu	37	18	22805397	22805397	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:22805397G>A	ENST00000361524.3	-	4	2633	c.2485C>T	c.(2485-2487)Cga>Tga	p.R829*	ZNF521_ENST00000584787.1_Nonsense_Mutation_p.R609*|ZNF521_ENST00000538137.2_Nonsense_Mutation_p.R829*	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	829					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					TGTTTTTCTCGCAAGTGTTTT	0.458			T	PAX5	ALL								53	88					0	0	1	0	0	A	22805397	G	A	22805397	4	1	81	1	0	0	0	0	0	1	0	0	18022	1095	38	1	1470	1	ZNF521	18	22805397	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	784815	22805397	55271851	12896	16512											
TAF4B	6875	broad.mit.edu	37	18	23847570	23847570	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:23847570A>G	ENST00000269142.5	+	3	1578	c.580A>G	c.(580-582)Aag>Gag	p.K194E	TAF4B_ENST00000400466.2_Missense_Mutation_p.K194E|TAF4B_ENST00000578121.1_Missense_Mutation_p.K194E	NM_005640.1	NP_005631.1	Q92750	TAF4B_HUMAN	TAF4b RNA polymerase II, TATA box binding protein (TBP)-associated factor, 105kDa	194					transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleolus|transcription factor TFIID complex	DNA binding|NF-kappaB binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|prostate(1)|skin(1)	29	all_cancers(21;0.00151)|Lung NSC(5;0.000401)|all_lung(6;0.00115)|Ovarian(20;0.124)		Epithelial(2;9.57e-07)|all cancers(3;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(3;1.96e-05)|LUSC - Lung squamous cell carcinoma(2;0.00594)|Lung(2;0.0267)			CACTGTTCCGAAGCCTTCCTC	0.393													28	45					0	0	1	0	0	G	23847570	A	G	23847570	3	3	81	1	0	0	0	0	1	0	0	0	15584	247	9	3	590	3	TAF4B	18	23847570	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	1042173	23847570	54229678	12897	16513											
TAF4B	6875	broad.mit.edu	37	18	23866114	23866114	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:23866114C>T	ENST00000269142.5	+	7	2239	c.1241C>T	c.(1240-1242)tCt>tTt	p.S414F	TAF4B_ENST00000400466.2_Missense_Mutation_p.S414F|TAF4B_ENST00000578121.1_Missense_Mutation_p.S414F	NM_005640.1	NP_005631.1	Q92750	TAF4B_HUMAN	TAF4b RNA polymerase II, TATA box binding protein (TBP)-associated factor, 105kDa	414					transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleolus|transcription factor TFIID complex	DNA binding|NF-kappaB binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|prostate(1)|skin(1)	29	all_cancers(21;0.00151)|Lung NSC(5;0.000401)|all_lung(6;0.00115)|Ovarian(20;0.124)		Epithelial(2;9.57e-07)|all cancers(3;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(3;1.96e-05)|LUSC - Lung squamous cell carcinoma(2;0.00594)|Lung(2;0.0267)			ACACTTCATTCTGTGGGCCCA	0.498													19	28					0	0	1	0	0	T	23866114	C	T	23866114	3	4	81	1	0	0	0	0	1	0	0	0	15584	913	32	2	1267	2	TAF4B	18	23866114	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	18544	23866114	54211134	12898	16514											
AQP4	361	broad.mit.edu	37	18	24436260	24436260	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:24436260G>T	ENST00000383168.4	-	5	1015	c.887C>A	c.(886-888)cCt>cAt	p.P296H	AQP4_ENST00000440832.3_Missense_Mutation_p.P274H|AQP4_ENST00000583022.1_5'UTR|AQP4-AS1_ENST00000579964.1_RNA|AQP4-AS1_ENST00000582605.1_RNA|AQP4_ENST00000581374.1_Missense_Mutation_p.P274H	NM_001650.4|NM_004028.3	NP_001641.1|NP_004019.1	P55087	AQP4_HUMAN	aquaporin 4	296				P -> L (in Ref. 1; AAC52112).	cellular response to interferon-gamma|excretion|nervous system development	cytoplasm|external side of plasma membrane|integral to plasma membrane	water channel activity			kidney(2)|large_intestine(3)|lung(5)|skin(1)	11	all_cancers(21;0.0172)|Lung NSC(5;0.00299)|all_lung(6;0.00747)|Ovarian(20;0.124)					CACCACTCCAGGTTTTAGAAT	0.488													22	196					2.89027e-11	3.57291e-11	1	1	0	T	24436260	G	T	24436260	3	4	81	1	0	0	0	0	1	0	0	0	825	1000	35	4	88	4	AQP4	18	24436260	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	570146	24436260	53640988	12899	16515											
AQP4	361	broad.mit.edu	37	18	24436384	24436384	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:24436384C>A	ENST00000383168.4	-	5	891	c.763G>T	c.(763-765)Gat>Tat	p.D255Y	AQP4_ENST00000440832.3_Missense_Mutation_p.D233Y|AQP4_ENST00000583022.1_5'UTR|AQP4-AS1_ENST00000579964.1_RNA|AQP4-AS1_ENST00000582605.1_RNA|AQP4_ENST00000581374.1_Missense_Mutation_p.D233Y	NM_001650.4|NM_004028.3	NP_001641.1|NP_004019.1	P55087	AQP4_HUMAN	aquaporin 4	255					cellular response to interferon-gamma|excretion|nervous system development	cytoplasm|external side of plasma membrane|integral to plasma membrane	water channel activity			kidney(2)|large_intestine(3)|lung(5)|skin(1)	11	all_cancers(21;0.0172)|Lung NSC(5;0.00299)|all_lung(6;0.00747)|Ovarian(20;0.124)					AATTCAACATCTGGACAGAAG	0.458													26	106					2.79863e-10	3.42042e-10	1	1	0	A	24436384	C	A	24436384	3	1	81	1	0	0	0	0	1	0	0	0	825	913	32	4	212	4	AQP4	18	24436384	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	124	24436384	53640864	12900	16516											
CHST9	83539	broad.mit.edu	37	18	24497012	24497012	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:24497012G>A	ENST00000284224.8	-	6	820	c.543C>T	c.(541-543)ttC>ttT	p.F181F	CHST9_ENST00000580774.1_3'UTR|AQP4-AS1_ENST00000578701.1_RNA|CHST9_ENST00000581714.1_Silent_p.F181F|AQP4-AS1_ENST00000579964.1_RNA|AQP4-AS1_ENST00000568797.1_RNA|AQP4-AS1_ENST00000582605.1_RNA	NM_031422.5	NP_113610.2	Q7L1S5	CHST9_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 9	181					carbohydrate biosynthetic process|glycosaminoglycan metabolic process|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process	extracellular region|Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|skin(3)	28	all_lung(6;0.0145)|Ovarian(20;0.124)					ACTCCTGAAGGAAAGACCTTC	0.373													42	88					0	0	1	0	0	A	24497012	G	A	24497012	2	1	81	1	0	0	0	0	0	0	0	1	3433	1165	41	2		2	CHST9	18	24497012	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	60628	24497012	53580236	12901	16517											
CDH2	1000	broad.mit.edu	37	18	25565020	25565020	+	Missense_Mutation	SNP	G	G	A	rs140836073		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:25565020G>A	ENST00000269141.3	-	13	2576	c.2153C>T	c.(2152-2154)gCg>gTg	p.A718V	CDH2_ENST00000399380.3_Missense_Mutation_p.A687V	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)	718					adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding			NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						GCCAAGCCCCGCACCCACAAT	0.493													18	21					0	0	1	0	0	A	25565020	G	A	25565020	3	1	81	1	0	0	0	0	1	0	0	0	3127	1087	38	1	583	1	CDH2	18	25565020	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1068008	25565020	52512228	12902	16518											
CDH2	1000	broad.mit.edu	37	18	25572622	25572622	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:25572622G>A	ENST00000269141.3	-	9	1764	c.1341C>T	c.(1339-1341)gtC>gtT	p.V447V	CDH2_ENST00000399380.3_Silent_p.V416V	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)	447	Cadherin 3.				adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding			NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						CACTTACTTTGACCACGGTGA	0.527													6	45					0	0	1	0	0	A	25572622	G	A	25572622	2	1	81	1	0	0	0	0	0	0	0	1	3127	1277	45	2		2	CDH2	18	25572622	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	7602	25572622	52504626	12903	16519											
CDH2	1000	broad.mit.edu	37	18	25583001	25583001	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:25583001G>A	ENST00000269141.3	-	7	1403	c.980C>T	c.(979-981)aCt>aTt	p.T327I	CDH2_ENST00000399380.3_Missense_Mutation_p.T296I	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)	327	Cadherin 2.				adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding			NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						GATGTCACCAGTCTCATTGTT	0.438													47	71					0	0	1	0	0	A	25583001	G	A	25583001	3	1	81	1	0	0	0	0	1	0	0	0	3127	1029	36	2	1780	2	CDH2	18	25583001	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	10379	25583001	52494247	12904	16520											
CDH2	1000	broad.mit.edu	37	18	25727734	25727734	+	Silent	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:25727734A>T	ENST00000269141.3	-	2	498	c.75T>A	c.(73-75)gcT>gcA	p.A25A		NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)	25					adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding			NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						TTTCACCAGAAGCCTCTACAG	0.418													8	18					0	0	1	0	0	T	25727734	A	T	25727734	2	4	81	1	0	0	0	0	0	0	0	1	3127	59	3	5		5	CDH2	18	25727734	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	144733	25727734	52349514	12905	16521											
DSC3	1825	broad.mit.edu	37	18	28576966	28576966	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:28576966C>A	ENST00000434452.1	-	15	2438	c.2284G>T	c.(2284-2286)Ggt>Tgt	p.G762C	DSC3_ENST00000360428.4_Missense_Mutation_p.G762C	NM_024423.2	NP_077741.2	Q14574	DSC3_HUMAN	desmocollin 3	762					homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			CCACAAAAACCTTGGCTAGAG	0.413													5	42					0.00116845	0.00124301	1	1	0	A	28576966	C	A	28576966	3	1	81	1	0	0	0	0	1	0	0	0	4793	681	24	4	445	4	DSC3	18	28576966	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2849232	28576966	49500282	12906	16522											
DSC3	1825	broad.mit.edu	37	18	28584320	28584320	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:28584320C>T	ENST00000434452.1	-	13	2055	c.1901G>A	c.(1900-1902)cGt>cAt	p.R634H	DSC3_ENST00000360428.4_Missense_Mutation_p.R634H	NM_024423.2	NP_077741.2	Q14574	DSC3_HUMAN	desmocollin 3	634	Cadherin 5.				homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			ATATGAAAGACGGGCAGCTGT	0.343													27	35					0	0	1	0	0	T	28584320	C	T	28584320	3	4	81	1	0	0	0	0	1	0	0	0	4793	536	19	1	836	1	DSC3	18	28584320	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	7354	28584320	49492928	12907	16523											
DSC3	1825	broad.mit.edu	37	18	28588261	28588261	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:28588261G>A	ENST00000434452.1	-	10	1648	c.1494C>T	c.(1492-1494)ccC>ccT	p.P498P	DSC3_ENST00000360428.4_Silent_p.P498P	NM_024423.2	NP_077741.2	Q14574	DSC3_HUMAN	desmocollin 3	498	Cadherin 4.				homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			TTCTATTTTCGGGGTCATATG	0.363													20	25					0	0	1	0	0	A	28588261	G	A	28588261	2	1	81	1	0	0	0	0	0	0	0	1	4793	1103	39	1		1	DSC3	18	28588261	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	3941	28588261	49488987	12908	16524											
DSC3	1825	broad.mit.edu	37	18	28588282	28588282	+	Silent	SNP	G	G	A	rs138254140		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:28588282G>A	ENST00000434452.1	-	10	1627	c.1473C>T	c.(1471-1473)aaC>aaT	p.N491N	DSC3_ENST00000360428.4_Silent_p.N491N	NM_024423.2	NP_077741.2	Q14574	DSC3_HUMAN	desmocollin 3	491	Cadherin 4.				homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding	p.N491N(2)		endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			CCTTATAGCCGTTGATCTTTG	0.388													25	30					0	0	1	0	0	A	28588282	G	A	28588282	2	1	81	1	0	0	0	0	0	0	0	1	4793	1136	40	1		1	DSC3	18	28588282	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	21	28588282	49488966	12909	16525											
DSC1	1823	broad.mit.edu	37	18	28720060	28720060	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:28720060C>T	ENST00000257197.3	-	10	1726	c.1465G>A	c.(1465-1467)Gaa>Aaa	p.E489K	RP11-408H20.2_ENST00000581836.1_RNA|DSC1_ENST00000257198.5_Missense_Mutation_p.E489K	NM_004948.3	NP_004939.1	Q08554	DSC1_HUMAN	desmocollin 1	489	Cadherin 4.				homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding	p.E489*(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			CCAAGGAGTTCTTGGCCAGCT	0.428													38	58					0	0	1	0	0	T	28720060	C	T	28720060	3	4	81	1	0	0	0	0	1	0	0	0	4791	922	32	2	1287	2	DSC1	18	28720060	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	131778	28720060	49357188	12910	16526											
DSC1	1823	broad.mit.edu	37	18	28725648	28725648	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:28725648C>A	ENST00000257197.3	-	7	1126	c.865G>T	c.(865-867)Gat>Tat	p.D289Y	RP11-408H20.2_ENST00000581836.1_RNA|DSC1_ENST00000257198.5_Missense_Mutation_p.D289Y	NM_004948.3	NP_004939.1	Q08554	DSC1_HUMAN	desmocollin 1	289	Cadherin 2.				homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			TTTGGATGATCTGGGATTTGT	0.408													33	73					2.42023e-17	3.11933e-17	1	1	0	A	28725648	C	A	28725648	3	1	81	1	0	0	0	0	1	0	0	0	4791	913	32	4	1899	4	DSC1	18	28725648	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	5588	28725648	49351600	12911	16527											
DSG1	1828	broad.mit.edu	37	18	28935225	28935225	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:28935225C>T	ENST00000257192.4	+	15	3278	c.3066C>T	c.(3064-3066)caC>caT	p.H1022H	RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000578477.1_RNA|DSG1_ENST00000462981.2_Silent_p.H381H|RP11-534N16.1_ENST00000581452.1_RNA	NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	1022					calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding	p.H1022H(1)		NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			CTGACCATCACTTTAACCAAA	0.542													7	24					0	0	1	0	0	T	28935225	C	T	28935225	2	4	81	1	0	0	0	0	0	0	0	1	4802	564	20	2		2	DSG1	18	28935225	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	209577	28935225	49142023	12912	16528											
DSG4	147409	broad.mit.edu	37	18	28993015	28993015	+	Silent	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:28993015T>G	ENST00000359747.4	+	15	2666	c.2637T>G	c.(2635-2637)gcT>gcG	p.A879A	RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000578477.1_RNA|DSG4_ENST00000308128.4_Silent_p.A860A	NM_001134453.1	NP_001127925.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	860					homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			CACACCAGGCTTGTATACCAA	0.388													27	111					0	0	1	0	0	G	28993015	T	G	28993015	2	3	81	1	0	0	0	0	0	0	0	1	4805	1596	56	5		5	DSG4	18	28993015	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	57790	28993015	49084233	12913	16529											
DSG2	1829	broad.mit.edu	37	18	29104816	29104816	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:29104816G>A	ENST00000261590.8	+	8	1188	c.979G>A	c.(979-981)Gct>Act	p.A327T		NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	desmoglein 2	327	Cadherin 3.				cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			AGAAACAGATGCTCAAACTAA	0.368													20	36					0	0	1	0	0	A	29104816	G	A	29104816	3	1	81	1	0	0	0	0	1	0	0	0	4803	1319	46	2	1009	2	DSG2	18	29104816	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	111801	29104816	48972432	12914	16530											
B4GALT6	9331	broad.mit.edu	37	18	29205652	29205652	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:29205652T>G	ENST00000306851.5	-	9	1370	c.1074A>C	c.(1072-1074)aaA>aaC	p.K358N	B4GALT6_ENST00000237019.7_Missense_Mutation_p.K319N|B4GALT6_ENST00000383131.3_Missense_Mutation_p.K319N	NM_004775.3	NP_004766.2	Q9UBX8	B4GT6_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 6	358					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(6)|pancreas(1)	20			OV - Ovarian serous cystadenocarcinoma(10;0.00791)			CAACCAGTATTTTTGGCCTAT	0.353													42	52					0	0	1	0	0	G	29205652	T	G	29205652	3	3	81	1	0	0	0	0	1	0	0	0	1273	1838	64	5	78	5	B4GALT6	18	29205652	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	100836	29205652	48871596	12915	16531											
RNF138	51444	broad.mit.edu	37	18	29691857	29691857	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:29691857G>A	ENST00000261593.3	+	3	709	c.251G>A	c.(250-252)gGt>gAt	p.G84D	RNF138_ENST00000585103.1_Intron|RNF138_ENST00000257190.5_Intron	NM_001191324.1|NM_016271.4	NP_001178253.2|NP_057355.2	Q8WVD3	RN138_HUMAN	ring finger protein 138, E3 ubiquitin protein ligase	84					Wnt receptor signaling pathway	intracellular	ligase activity|protein kinase binding|zinc ion binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1)	12						AAGTTTTCTGGTAGCTGCAGA	0.413													20	31					0	0	1	0	0	A	29691857	G	A	29691857	3	1	81	1	0	0	0	0	1	0	0	0	13493	1261	44	2	257	2	RNF138	18	29691857	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	486205	29691857	48385391	12916	16532											
MEP1B	4225	broad.mit.edu	37	18	29793158	29793158	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:29793158C>T	ENST00000269202.6	+	11	1262	c.1215C>T	c.(1213-1215)cgC>cgT	p.R405R	MEP1B_ENST00000581447.1_Silent_p.R405R	NM_005925.2	NP_005916.2	Q16820	MEP1B_HUMAN	meprin A, beta	405	MAM.				digestion|proteolysis	extracellular space|integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						TTGAAGGACGCAAAGGCTCTG	0.423													20	35					0	0	1	0	0	T	29793158	C	T	29793158	2	4	81	1	0	0	0	0	0	0	0	1	9526	697	25	2		2	MEP1B	18	29793158	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	101301	29793158	48284090	12917	16533											
KLHL14	57565	broad.mit.edu	37	18	30254669	30254669	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:30254669G>T	ENST00000359358.4	-	9	2276	c.1838C>A	c.(1837-1839)cCt>cAt	p.P613H		NM_020805.1	NP_065856.1	Q9P2G3	KLH14_HUMAN	kelch-like family member 14	613						cytosol|endoplasmic reticulum membrane				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2)	31						CACACAGGCAGGGCCTGCCAA	0.463													13	140					0.0242445	0.0248788	1	1	0	T	30254669	G	T	30254669	3	4	81	1	0	0	0	0	1	0	0	0	8413	1000	35	4	52	4	KLHL14	18	30254669	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	461511	30254669	47822579	12918	16534											
KLHL14	57565	broad.mit.edu	37	18	30260222	30260222	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:30260222G>A	ENST00000359358.4	-	7	1936	c.1498C>T	c.(1498-1500)Cga>Tga	p.R500*		NM_020805.1	NP_065856.1	Q9P2G3	KLH14_HUMAN	kelch-like family member 14	500						cytosol|endoplasmic reticulum membrane				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2)	31						TCTTGTTTTCGAGCCCAGACA	0.383													46	55					0	0	1	0	0	A	30260222	G	A	30260222	4	1	81	1	0	0	0	0	0	1	0	0	8413	1066	37	1	400	1	KLHL14	18	30260222	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	5553	30260222	47817026	12919	16535											
KLHL14	57565	broad.mit.edu	37	18	30260482	30260482	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:30260482C>A	ENST00000359358.4	-	6	1757	c.1319G>T	c.(1318-1320)aGc>aTc	p.S440I		NM_020805.1	NP_065856.1	Q9P2G3	KLH14_HUMAN	kelch-like family member 14	440						cytosol|endoplasmic reticulum membrane				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2)	31						GCACTCCACGCTGGACAAGTA	0.473													10	40					3.86212e-05	4.27865e-05	1	1	0	A	30260482	C	A	30260482	3	1	81	1	0	0	0	0	1	0	0	0	8413	797	28	4	583	4	KLHL14	18	30260482	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	260	30260482	47816766	12920	16536											
ASXL3	80816	broad.mit.edu	37	18	31320060	31320060	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:31320060C>T	ENST00000269197.5	+	11	2692	c.2692C>T	c.(2692-2694)Cca>Tca	p.P898S		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	898					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						AAATGAGCTTCCATCTGCTAA	0.373													16	49					0	0	1	0	0	T	31320060	C	T	31320060	3	4	81	1	0	0	0	0	1	0	0	0	1067	855	30	2	2734	2	ASXL3	18	31320060	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1059578	31320060	46757188	12921	16537											
ASXL3	80816	broad.mit.edu	37	18	31325549	31325549	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:31325549G>A	ENST00000269197.5	+	12	5737	c.5737G>A	c.(5737-5739)Gtt>Att	p.V1913I		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	1913					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						CCTATTTCATGTTGACAAGAA	0.527													30	82					0	0	1	0	0	A	31325549	G	A	31325549	3	1	81	1	0	0	0	0	1	0	0	0	1067	1377	48	2	5783	2	ASXL3	18	31325549	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	5489	31325549	46751699	12922	16538											
NOL4	8715	broad.mit.edu	37	18	31684026	31684026	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:31684026G>A	ENST00000261592.5	-	4	921	c.624C>T	c.(622-624)aaC>aaT	p.N208N	NOL4_ENST00000269185.4_Silent_p.N94N|NOL4_ENST00000589544.1_Silent_p.N208N|NOL4_ENST00000538587.1_Silent_p.N134N|NOL4_ENST00000535475.1_Silent_p.N53N	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN	nucleolar protein 4	208						nucleolus	RNA binding			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						CTTGCTGTGAGTTTAGCAGCT	0.383													32	40					0	0	1	0	0	A	31684026	G	A	31684026	2	1	81	1	0	0	0	0	0	0	0	1	10571	1020	36	2		2	NOL4	18	31684026	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	358477	31684026	46393222	12923	16539											
NOL4	8715	broad.mit.edu	37	18	31685089	31685089	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:31685089C>T	ENST00000261592.5	-	3	747	c.450G>A	c.(448-450)gcG>gcA	p.A150A	NOL4_ENST00000269185.4_Silent_p.A36A|NOL4_ENST00000589544.1_Silent_p.A150A|NOL4_ENST00000538587.1_Silent_p.A76A|NOL4_ENST00000535475.1_5'UTR	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN	nucleolar protein 4	150						nucleolus	RNA binding			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						ATCGTGTCACCGCTTCTCTTG	0.393													37	66					0	0	1	0	0	T	31685089	C	T	31685089	2	4	81	1	0	0	0	0	0	0	0	1	10571	639	23	1		1	NOL4	18	31685089	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1063	31685089	46392159	12924	16540											
DTNA	1837	broad.mit.edu	37	18	32345949	32345949	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:32345949G>A	ENST00000283365.9	+	4	443	c.92G>A	c.(91-93)cGa>cAa	p.R31Q	DTNA_ENST00000554864.3_Missense_Mutation_p.R31Q|DTNA_ENST00000598334.1_Missense_Mutation_p.R31Q|DTNA_ENST00000598774.1_Missense_Mutation_p.R31Q|DTNA_ENST00000595022.1_Missense_Mutation_p.R31Q|DTNA_ENST00000598142.1_Missense_Mutation_p.R31Q|DTNA_ENST00000399097.3_5'UTR|DTNA_ENST00000269190.7_Missense_Mutation_p.R31Q|DTNA_ENST00000348997.5_Missense_Mutation_p.R31Q|RP11-138H11.1_ENST00000596954.1_RNA|DTNA_ENST00000399121.5_Missense_Mutation_p.R31Q|DTNA_ENST00000269191.6_Missense_Mutation_p.R31Q|DTNA_ENST00000444659.1_Missense_Mutation_p.R31Q|DTNA_ENST00000315456.6_Missense_Mutation_p.R31Q|DTNA_ENST00000399113.3_Missense_Mutation_p.R31Q|DTNA_ENST00000597599.1_Missense_Mutation_p.R31Q|DTNA_ENST00000596745.1_Missense_Mutation_p.R31Q	NM_032975.3	NP_116757.2	Q9Y4J8	DTNA_HUMAN	dystrobrevin, alpha	31	Interaction with MAGEE1 (By similarity).				neuromuscular synaptic transmission|signal transduction|striated muscle contraction	cell junction|cytoplasm|synapse	calcium ion binding|protein binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(2)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	29						GATCGCATCCGACTCTCCACC	0.403													12	21					0	0	1	0	0	A	32345949	G	A	32345949	3	1	81	1	0	0	0	0	1	0	0	0	4814	1058	37	1	98	1	DTNA	18	32345949	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	660860	32345949	45731299	12925	16541											
ZNF24	7572	broad.mit.edu	37	18	32919925	32919925	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:32919925G>A	ENST00000589881.1	-	2	439	c.436C>T	c.(436-438)Cga>Tga	p.R146*	ZNF24_ENST00000261332.6_Nonsense_Mutation_p.R146*|ZNF24_ENST00000399061.3_Nonsense_Mutation_p.R146*			P17028	ZNF24_HUMAN	zinc finger protein 24	146					myelination|negative regulation of transcription, DNA-dependent|viral reproduction	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	15						TCCCGTTTTCGTCGACGGAGA	0.428													33	41					0	0	1	0	0	A	32919925	G	A	32919925	4	1	81	1	0	0	0	0	0	1	0	0	17850	1153	40	1	678	1	ZNF24	18	32919925	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	573976	32919925	45157323	12926	16542											
INO80C	125476	broad.mit.edu	37	18	33060526	33060526	+	Splice_Site	SNP	C	C	T	rs150273392	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:33060526C>T	ENST00000592173.1	-	2	216	c.158G>A	c.(157-159)gGt>gAt	p.G53D	INO80C_ENST00000586489.1_5'UTR|INO80C_ENST00000334598.7_Splice_Site_p.G53D|RP11-322E11.6_ENST00000589258.1_Intron|INO80C_ENST00000590757.1_Intron|INO80C_ENST00000441607.2_Splice_Site_p.G89D			Q6PI98	IN80C_HUMAN	INO80 complex subunit C	53					DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex|MLL1 complex				central_nervous_system(1)|endometrium(1)|lung(3)|prostate(2)|skin(1)	8						CATGCTGATACCCTTAAAACA	0.448													27	45					0	0	1	0	0	T	33060526	C	T	33060526	5	4	81	1	0	0	0	0	0	0	1	0	7792	521	18	2	436	2	INO80C	18	33060526	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	140601	33060526	45016722	12927	16543											
C18orf21	83608	broad.mit.edu	37	18	33557432	33557432	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:33557432T>C	ENST00000592875.1	+	4	1006	c.360T>C	c.(358-360)ttT>ttC	p.F120F	C18orf21_ENST00000333234.5_Silent_p.F32F	NM_031446.4	NP_113634.3	Q32NC0	CR021_HUMAN	chromosome 18 open reading frame 21	120										endometrium(1)|kidney(1)|large_intestine(1)|skin(2)	5						GTAGAAGCTTTGTGTCAACAT	0.393													4	45					0	0	1	0	0	C	33557432	T	C	33557432	2	2	81	1	0	0	0	0	0	0	0	1	1908	1809	63	3		3	C18orf21	18	33557432	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	496906	33557432	44519816	12928	16544											
SLC39A6	25800	broad.mit.edu	37	18	33704581	33704581	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:33704581C>T	ENST00000269187.5	-	3	1085	c.872G>A	c.(871-873)tGt>tAt	p.C291Y	SLC39A6_ENST00000590986.1_Missense_Mutation_p.C291Y|SLC39A6_ENST00000440549.2_Missense_Mutation_p.C16Y	NM_012319.3	NP_036451	Q13433	S39A6_HUMAN	solute carrier family 39 (zinc transporter), member 6	291						integral to membrane|lamellipodium membrane	zinc ion transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	41						GATGGCTGGACAGAGATAGTT	0.413													38	50					0	0	1	0	0	T	33704581	C	T	33704581	3	4	81	1	0	0	0	0	1	0	0	0	14677	478	17	2	1439	2	SLC39A6	18	33704581	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	147149	33704581	44372667	12929	16545											
MOCOS	55034	broad.mit.edu	37	18	33795492	33795492	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:33795492G>A	ENST00000261326.5	+	8	1370	c.1349G>A	c.(1348-1350)tGt>tAt	p.C450Y		NM_017947.2	NP_060417.2	Q96EN8	MOCOS_HUMAN	molybdenum cofactor sulfurase	450					Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol	lyase activity|Mo-molybdopterin cofactor sulfurase activity|molybdenum ion binding|pyridoxal phosphate binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|liver(1)|lung(15)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43					Pyridoxal Phosphate(DB00114)	GGTCATGTCTGTGGGGACAAT	0.468													9	19					0	0	1	0	0	A	33795492	G	A	33795492	3	1	81	1	0	0	0	0	1	0	0	0	9738	1377	48	2	1379	2	MOCOS	18	33795492	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	90911	33795492	44281756	12930	16546											
MOCOS	55034	broad.mit.edu	37	18	33800180	33800180	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:33800180G>A	ENST00000261326.5	+	9	1981	c.1960G>A	c.(1960-1962)Ggg>Agg	p.G654R		NM_017947.2	NP_060417.2	Q96EN8	MOCOS_HUMAN	molybdenum cofactor sulfurase	654					Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol	lyase activity|Mo-molybdopterin cofactor sulfurase activity|molybdenum ion binding|pyridoxal phosphate binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|liver(1)|lung(15)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43					Pyridoxal Phosphate(DB00114)	CAAAGCCAAAGGTGGGAAAAC	0.478													15	37					0	0	1	0	0	A	33800180	G	A	33800180	5	1	81	1	0	0	0	0	0	0	1	0	9738	1014	35	2	1994	2	MOCOS	18	33800180	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	4688	33800180	44277068	12931	16547											
FHOD3	80206	broad.mit.edu	37	18	34092484	34092484	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:34092484C>T	ENST00000257209.4	+	5	611	c.489C>T	c.(487-489)aaC>aaT	p.N163N	FHOD3_ENST00000445677.1_Silent_p.N163N|FHOD3_ENST00000359247.4_Silent_p.N163N|FHOD3_ENST00000590592.1_Silent_p.N163N	NM_025135.2	NP_079411.2	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	163	GBD/FH3.				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				CTGATCAGAACTATCAGAACT	0.493													8	21					0	0	1	0	0	T	34092484	C	T	34092484	2	4	81	1	0	0	0	0	0	0	0	1	5916	564	20	2		2	FHOD3	18	34092484	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	292304	34092484	43984764	12932	16548											
FHOD3	80206	broad.mit.edu	37	18	34310638	34310638	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:34310638G>T	ENST00000257209.4	+	17	3044	c.2922G>T	c.(2920-2922)gaG>gaT	p.E974D	FHOD3_ENST00000592128.1_5'UTR|FHOD3_ENST00000445677.1_Missense_Mutation_p.E936D|FHOD3_ENST00000359247.4_Missense_Mutation_p.E957D|FHOD3_ENST00000590592.1_Missense_Mutation_p.E1149D|FHOD3_ENST00000591635.1_Missense_Mutation_p.E170D	NM_025135.2	NP_079411.2	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	957	FH2.				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				AAAGGCAAGAGATCATTGTTC	0.398													28	88					1.36615e-20	1.78514e-20	1	1	0	T	34310638	G	T	34310638	3	4	81	1	0	0	0	0	1	0	0	0	5916	933	33	4	2988	4	FHOD3	18	34310638	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	218154	34310638	43766610	12933	16549											
FHOD3	80206	broad.mit.edu	37	18	34322791	34322791	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:34322791C>T	ENST00000257209.4	+	19	3448	c.3326C>T	c.(3325-3327)gCc>gTc	p.A1109V	FHOD3_ENST00000592128.1_Missense_Mutation_p.A88V|FHOD3_ENST00000445677.1_Missense_Mutation_p.A1071V|FHOD3_ENST00000359247.4_Missense_Mutation_p.A1092V|FHOD3_ENST00000590592.1_Missense_Mutation_p.A1284V|FHOD3_ENST00000591635.1_Missense_Mutation_p.A305V	NM_025135.2	NP_079411.2	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	1092	FH2.				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				ACTCTCTTAGCCATTGGGAAC	0.458													61	111					0	0	1	0	0	T	34322791	C	T	34322791	3	4	81	1	0	0	0	0	1	0	0	0	5916	739	26	2	3400	2	FHOD3	18	34322791	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	12153	34322791	43754457	12934	16550											
FHOD3	80206	broad.mit.edu	37	18	34324063	34324063	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:34324063G>A	ENST00000257209.4	+	20	3545	c.3423G>A	c.(3421-3423)tcG>tcA	p.S1141S	FHOD3_ENST00000592128.1_Silent_p.S120S|FHOD3_ENST00000445677.1_Silent_p.S1103S|FHOD3_ENST00000359247.4_Silent_p.S1124S|FHOD3_ENST00000590592.1_Silent_p.S1316S|FHOD3_ENST00000591635.1_Silent_p.S337S	NM_025135.2	NP_079411.2	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	1124	FH2.				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				ACAAGCAGTCGCTTCTCCACC	0.488													44	61					0	0	1	0	0	A	34324063	G	A	34324063	2	1	81	1	0	0	0	0	0	0	0	1	5916	1074	38	1		1	FHOD3	18	34324063	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1272	34324063	43753185	12935	16551											
FHOD3	80206	broad.mit.edu	37	18	34326954	34326954	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:34326954G>T	ENST00000257209.4	+	21	3685	c.3563G>T	c.(3562-3564)aGa>aTa	p.R1188I	FHOD3_ENST00000592128.1_Missense_Mutation_p.R167I|FHOD3_ENST00000445677.1_Missense_Mutation_p.R1150I|FHOD3_ENST00000359247.4_Missense_Mutation_p.R1171I|FHOD3_ENST00000590592.1_Missense_Mutation_p.R1363I|FHOD3_ENST00000591635.1_Missense_Mutation_p.R384I	NM_025135.2	NP_079411.2	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	1171	FH2.				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				ATGGAGAGAAGATGCAAAGCT	0.433													21	32					3.62473e-10	4.42231e-10	1	1	0	T	34326954	G	T	34326954	3	4	81	1	0	0	0	0	1	0	0	0	5916	942	33	4	3645	4	FHOD3	18	34326954	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2891	34326954	43750294	12936	16552											
KIAA1328	57536	broad.mit.edu	37	18	34415334	34415334	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:34415334G>T	ENST00000591619.1	+	3	1006	c.220G>T	c.(220-222)Gaa>Taa	p.E74*	KIAA1328_ENST00000592521.1_Nonsense_Mutation_p.E78*|KIAA1328_ENST00000280020.5_Nonsense_Mutation_p.E78*|KIAA1328_ENST00000543923.1_Start_Codon_SNP_p.M1I|KIAA1328_ENST00000435985.2_5'UTR			Q86T90	K1328_HUMAN	KIAA1328	78										central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	14				COAD - Colon adenocarcinoma(74;0.195)		TTCAGTAGATGAACAGGTTAG	0.398													43	89					3.54909e-21	4.64362e-21	1	1	0	T	34415334	G	T	34415334	4	4	81	1	0	0	0	0	0	1	0	0	8267	1291	45	5	242	5	KIAA1328	18	34415334	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	88380	34415334	43661914	12937	16553											
PIK3C3	5289	broad.mit.edu	37	18	39607487	39607487	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:39607487G>T	ENST00000262039.4	+	14	1651	c.1565G>T	c.(1564-1566)aGa>aTa	p.R522I	PIK3C3_ENST00000593098.1_Missense_Mutation_p.R7I|PIK3C3_ENST00000398870.3_Missense_Mutation_p.R459I	NM_002647.2	NP_002638.2	Q8NEB9	PK3C3_HUMAN	phosphatidylinositol 3-kinase, catalytic subunit type 3	522					cell cycle|cytokinesis|fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	midbody|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|protein binding			breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(25)|ovary(1)|skin(2)|urinary_tract(1)	49						AACGTAATGAGAAGATTCAGC	0.423										TSP Lung(28;0.18)			7	55					0.27861	0.279815	1	1	0	T	39607487	G	T	39607487	3	4	81	1	0	0	0	0	1	0	0	0	11960	942	33	4	1619	4	PIK3C3	18	39607487	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	5192153	39607487	38469761	12938	16554											
PIK3C3	5289	broad.mit.edu	37	18	39618800	39618800	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:39618800C>T	ENST00000262039.4	+	18	2110	c.2024C>T	c.(2023-2025)aCc>aTc	p.T675I	PIK3C3_ENST00000593098.1_Missense_Mutation_p.T160I|PIK3C3_ENST00000587402.1_Missense_Mutation_p.T22I|PIK3C3_ENST00000589056.1_Missense_Mutation_p.T22I|PIK3C3_ENST00000398870.3_Missense_Mutation_p.T612I	NM_002647.2	NP_002638.2	Q8NEB9	PK3C3_HUMAN	phosphatidylinositol 3-kinase, catalytic subunit type 3	675	PI3K/PI4K.				cell cycle|cytokinesis|fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	midbody|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|protein binding			breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(25)|ovary(1)|skin(2)|urinary_tract(1)	49						GTGTTAGCCACCAGTACAAAA	0.279										TSP Lung(28;0.18)			28	35					0	0	1	0	0	T	39618800	C	T	39618800	3	4	81	1	0	0	0	0	1	0	0	0	11960	507	18	2	2094	2	PIK3C3	18	39618800	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	11313	39618800	38458448	12939	16555											
SETBP1	26040	broad.mit.edu	37	18	42281508	42281508	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:42281508G>A	ENST00000282030.5	+	2	493	c.197G>A	c.(196-198)gGg>gAg	p.G66E	SETBP1_ENST00000426838.4_Missense_Mutation_p.G66E	NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	66						nucleus	DNA binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		CTAGGCTCAGGGCGGGATGTG	0.562									Schinzel-Giedion syndrome				18	34					0	0	1	0	0	A	42281508	G	A	42281508	3	1	81	1	0	0	0	0	1	0	0	0	14183	1232	43	2	199	2	SETBP1	18	42281508	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2662708	42281508	35795740	12940	16556											
SETBP1	26040	broad.mit.edu	37	18	42532230	42532230	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:42532230C>A	ENST00000282030.5	+	4	3221	c.2925C>A	c.(2923-2925)acC>acA	p.T975T		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	975						nucleus	DNA binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		GGAGTTACACCTTCTACCACG	0.468									Schinzel-Giedion syndrome				34	55					4.31634e-10	5.26538e-10	1	1	0	A	42532230	C	A	42532230	2	1	81	1	0	0	0	0	0	0	0	1	14183	668	24	4		4	SETBP1	18	42532230	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	250722	42532230	35545018	12941	16557											
SETBP1	26040	broad.mit.edu	37	18	42643159	42643159	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:42643159C>T	ENST00000282030.5	+	6	4583	c.4287C>T	c.(4285-4287)caC>caT	p.H1429H		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	1429						nucleus	DNA binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		ACCTGGACCACGTGAACAAGA	0.557									Schinzel-Giedion syndrome				10	12					0	0	1	0	0	T	42643159	C	T	42643159	2	4	81	1	0	0	0	0	0	0	0	1	14183	535	19	1		1	SETBP1	18	42643159	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	110929	42643159	35434089	12942	16558											
SLC14A2	8170	broad.mit.edu	37	18	43217042	43217042	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:43217042G>A	ENST00000255226.6	+	6	1554	c.738G>A	c.(736-738)ttG>ttA	p.L246L	SLC14A2_ENST00000586448.1_Silent_p.L246L	NM_007163.3	NP_009094.3	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter), member 2	246						apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CAGTCACCTTGTACCTTGCAG	0.512													15	155					0	0	1	0	0	A	43217042	G	A	43217042	2	1	81	1	0	0	0	0	0	0	0	1	14452	1368	48	2		2	SLC14A2	18	43217042	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	573883	43217042	34860206	12943	16559											
SLC14A2	8170	broad.mit.edu	37	18	43253759	43253759	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:43253759C>T	ENST00000255226.6	+	18	3305	c.2489C>T	c.(2488-2490)aCg>aTg	p.T830M	SLC14A2_ENST00000589658.1_Missense_Mutation_p.T307M|SLC14A2_ENST00000586448.1_Missense_Mutation_p.T830M|RP11-116O18.3_ENST00000589510.1_RNA	NM_007163.3	NP_009094.3	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter), member 2	830						apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						ACCTGGCAGACGCACCTCCTC	0.478													23	32					0	0	1	0	0	T	43253759	C	T	43253759	3	4	81	1	0	0	0	0	1	0	0	0	14452	536	19	1	2555	1	SLC14A2	18	43253759	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	36717	43253759	34823489	12944	16560											
PSTPIP2	9050	broad.mit.edu	37	18	43591213	43591213	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:43591213C>A	ENST00000409746.5	-	5	359	c.288G>T	c.(286-288)caG>caT	p.Q96H	PSTPIP2_ENST00000589328.1_Missense_Mutation_p.Q96H|PSTPIP2_ENST00000588801.1_5'UTR	NM_024430.3	NP_077748.3	Q9H939	PPIP2_HUMAN	proline-serine-threonine phosphatase interacting protein 2	96						membrane				endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	17						CTCTTAAACTCTGTGCAAGCT	0.338													8	201					0.000274275	0.000297259	1	1	0	A	43591213	C	A	43591213	3	1	81	1	0	0	0	0	1	0	0	0	12771	912	32	4	756	4	PSTPIP2	18	43591213	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	337454	43591213	34486035	12945	16561											
ATP5A1	498	broad.mit.edu	37	18	43667331	43667331	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:43667331G>A	ENST00000593152.2	-	7	1316	c.777C>T	c.(775-777)atC>atT	p.I259I	ATP5A1_ENST00000282050.2_Silent_p.I309I|ATP5A1_ENST00000398752.6_Silent_p.I309I|ATP5A1_ENST00000590665.1_Silent_p.I287I	NM_001257335.1	NP_001244264.1	P25705	ATPA_HUMAN	ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1, cardiac muscle	309					ATP hydrolysis coupled proton transport|embryo development|lipid metabolic process|negative regulation of endothelial cell proliferation|respiratory electron transport chain	mitochondrial matrix|plasma membrane	ATP binding|eukaryotic cell surface binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|MHC class I protein binding|proton-transporting ATPase activity, rotational mechanism			breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(8)|skin(1)|urinary_tract(1)	22						CGTCATAGATGATCAAAGCAT	0.398													43	55					0	0	1	0	0	A	43667331	G	A	43667331	2	1	81	1	0	0	0	0	0	0	0	1	1146	1280	45	2		2	ATP5A1	18	43667331	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	76118	43667331	34409917	12946	16562											
ATP5A1	498	broad.mit.edu	37	18	43668133	43668133	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:43668133A>G	ENST00000593152.2	-	6	1130	c.591T>C	c.(589-591)gtT>gtC	p.V197V	ATP5A1_ENST00000282050.2_Silent_p.V247V|ATP5A1_ENST00000398752.6_Silent_p.V247V|ATP5A1_ENST00000590665.1_Silent_p.V225V	NM_001257335.1	NP_001244264.1	P25705	ATPA_HUMAN	ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1, cardiac muscle	247					ATP hydrolysis coupled proton transport|embryo development|lipid metabolic process|negative regulation of endothelial cell proliferation|respiratory electron transport chain	mitochondrial matrix|plasma membrane	ATP binding|eukaryotic cell surface binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|MHC class I protein binding|proton-transporting ATPase activity, rotational mechanism			breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(8)|skin(1)|urinary_tract(1)	22						GACCAATAGCAACATAAATAC	0.353													55	88					0	0	1	0	0	G	43668133	A	G	43668133	2	3	81	1	0	0	0	0	0	0	0	1	1146	117	5	3		3	ATP5A1	18	43668133	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	802	43668133	34409115	12947	16563											
HAUS1	115106	broad.mit.edu	37	18	43698240	43698240	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:43698240A>G	ENST00000282058.6	+	3	379	c.299A>G	c.(298-300)gAc>gGc	p.D100G	HAUS1_ENST00000588704.1_3'UTR|HAUS1_ENST00000585518.1_Intron	NM_138443.3	NP_612452.1	Q96CS2	HAUS1_HUMAN	HAUS augmin-like complex, subunit 1	100					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle pole				endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	7						GCTTTGGTTGACAGTGCGGTG	0.423													49	60					0	0	1	0	0	G	43698240	A	G	43698240	3	3	81	1	0	0	0	0	1	0	0	0	7006	275	10	3	309	3	HAUS1	18	43698240	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	30107	43698240	34379008	12948	16564											
RNF165	494470	broad.mit.edu	37	18	44027530	44027530	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:44027530C>A	ENST00000269439.7	+	4	541	c.490C>A	c.(490-492)Ctc>Atc	p.L164I	RNF165_ENST00000543885.1_5'UTR	NM_152470.2	NP_689683.2	Q6ZSG1	RN165_HUMAN	ring finger protein 165	164							zinc ion binding			NS(1)|large_intestine(4)|lung(6)	11				READ - Rectum adenocarcinoma(1;0.0873)		CTGCAGGGATCTCAGTGTGGA	0.532													33	65					6.97489e-18	9.02363e-18	1	1	0	A	44027530	C	A	44027530	3	1	81	1	0	0	0	0	1	0	0	0	13508	913	32	4	504	4	RNF165	18	44027530	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	329290	44027530	34049718	12949	16565											
RNF165	494470	broad.mit.edu	37	18	44027652	44027652	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:44027652G>T	ENST00000269439.7	+	4	663	c.612G>T	c.(610-612)caG>caT	p.Q204H	RNF165_ENST00000543885.1_Missense_Mutation_p.Q12H	NM_152470.2	NP_689683.2	Q6ZSG1	RN165_HUMAN	ring finger protein 165	204							zinc ion binding			NS(1)|large_intestine(4)|lung(6)	11				READ - Rectum adenocarcinoma(1;0.0873)		CCTCCACACAGATGGTAAGTG	0.582													36	50					1.836e-18	2.38158e-18	1	1	0	T	44027652	G	T	44027652	3	4	81	1	0	0	0	0	1	0	0	0	13508	933	33	4	626	4	RNF165	18	44027652	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	122	44027652	34049596	12950	16566											
ST8SIA5	29906	broad.mit.edu	37	18	44260099	44260099	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:44260099C>T	ENST00000315087.7	-	7	1697	c.1037G>A	c.(1036-1038)gGc>gAc	p.G346D	ST8SIA5_ENST00000536490.1_Missense_Mutation_p.G315D|ST8SIA5_ENST00000538168.1_Missense_Mutation_p.G382D|ST8SIA5_ENST00000590497.1_5'UTR	NM_013305.4	NP_037437.2	O15466	SIA8E_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5	346					glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane				kidney(1)|large_intestine(10)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	22						GGCGTGGAAGCCGGGACGCGG	0.607													40	61					0	0	1	0	0	T	44260099	C	T	44260099	3	4	81	1	0	0	0	0	1	0	0	0	15291	739	26	2	97	2	ST8SIA5	18	44260099	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	232447	44260099	33817149	12951	16567											
ST8SIA5	29906	broad.mit.edu	37	18	44260279	44260279	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:44260279G>A	ENST00000315087.7	-	7	1517	c.857C>T	c.(856-858)tCg>tTg	p.S286L	ST8SIA5_ENST00000536490.1_Missense_Mutation_p.S255L|ST8SIA5_ENST00000538168.1_Missense_Mutation_p.S322L|ST8SIA5_ENST00000590497.1_5'UTR	NM_013305.4	NP_037437.2	O15466	SIA8E_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5	286					glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane				kidney(1)|large_intestine(10)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	22						CCAGTAGCGCGACACGTTGAC	0.617													15	30					0	0	1	0	0	A	44260279	G	A	44260279	3	1	81	1	0	0	0	0	1	0	0	0	15291	1059	37	1	277	1	ST8SIA5	18	44260279	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	180	44260279	33816969	12952	16568											
TCEB3C	162699	broad.mit.edu	37	18	44555163	44555163	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:44555163C>T	ENST00000330682.2	-	1	1286	c.1051G>A	c.(1051-1053)Gcc>Acc	p.A351T	KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000245121.5_Intron	NM_145653.3	NP_663628.2	Q8NG57	ELOA3_HUMAN	transcription elongation factor B polypeptide 3C (elongin A3)	351	Activation domain (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane|nucleus	DNA binding			NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(16)|skin(2)	30						TCGCCGAGGGCGTCCGGATTG	0.652													14	555					0	0	1	0	0	T	44555163	C	T	44555163	3	4	81	1	0	0	0	0	1	0	0	0	15743	768	27	1	2236	1	TCEB3C	18	44555163	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	294884	44555163	33522085	12953	16569											
TCEB3B	51224	broad.mit.edu	37	18	44559560	44559560	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:44559560G>A	ENST00000332567.4	-	1	2428	c.2076C>T	c.(2074-2076)ggC>ggT	p.G692G	KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000245121.5_Intron	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN	transcription elongation factor B polypeptide 3B (elongin A2)	692					regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding			breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						ctctgccaccgccgctgctgc	0.667													4	46					0	0	1	0	0	A	44559560	G	A	44559560	2	1	81	1	0	0	0	0	0	0	0	1	15742	1074	38	1		1	TCEB3B	18	44559560	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	4397	44559560	33517688	12954	16570											
TCEB3B	51224	broad.mit.edu	37	18	44559863	44559863	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:44559863C>A	ENST00000332567.4	-	1	2125	c.1773G>T	c.(1771-1773)caG>caT	p.Q591H	KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000245121.5_Intron	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN	transcription elongation factor B polypeptide 3B (elongin A2)	591	Activation domain (By similarity).				regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding			breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						CCTTGAAGTCCTGGAAACAAT	0.512													7	70					0.00198382	0.00209725	1	1	0	A	44559863	C	A	44559863	3	1	81	1	0	0	0	0	1	0	0	0	15742	680	24	4	492	4	TCEB3B	18	44559863	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	303	44559863	33517385	12955	16571											
TCEB3B	51224	broad.mit.edu	37	18	44560997	44560997	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:44560997G>A	ENST00000332567.4	-	1	991	c.639C>T	c.(637-639)ggC>ggT	p.G213G	KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000245121.5_Intron	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN	transcription elongation factor B polypeptide 3B (elongin A2)	213					regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding			breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						CCTGGGGTTGGCCCTGGCAGC	0.672													12	26					0	0	1	0	0	A	44560997	G	A	44560997	2	1	81	1	0	0	0	0	0	0	0	1	15742	1190	42	2		2	TCEB3B	18	44560997	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1134	44560997	33516251	12956	16572											
KATNAL2	83473	broad.mit.edu	37	18	44589659	44589659	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:44589659G>A	ENST00000245121.5	+	7	631	c.437G>A	c.(436-438)cGa>cAa	p.R146Q	KATNAL2_ENST00000356157.7_Missense_Mutation_p.R218Q|KATNAL2_ENST00000592005.1_Intron	NM_031303.2	NP_112593.2	Q8IYT4	KATL2_HUMAN	katanin p60 subunit A-like 2	218						cytoplasm|microtubule	ATP binding|microtubule-severing ATPase activity			central_nervous_system(2)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	27						CATCAGGAACGACTGCTGAAA	0.458													14	29					0	0	1	0	0	A	44589659	G	A	44589659	3	1	81	1	0	0	0	0	1	0	0	0	8030	1058	37	1	459	1	KATNAL2	18	44589659	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	28662	44589659	33487589	12957	16573											
SMAD2	4087	broad.mit.edu	37	18	45374854	45374854	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:45374854C>A	ENST00000402690.2	-	8	1383	c.989G>T	c.(988-990)aGg>aTg	p.R330M	SMAD2_ENST00000591214.1_Missense_Mutation_p.R300M|SMAD2_ENST00000586040.1_Missense_Mutation_p.R300M|SMAD2_ENST00000262160.6_Missense_Mutation_p.R330M|SMAD2_ENST00000356825.4_Missense_Mutation_p.R300M	NM_001003652.3	NP_001003652.1	Q15796	SMAD2_HUMAN	SMAD family member 2	330	MH2.				anterior/posterior pattern formation|cell fate commitment|common-partner SMAD protein phosphorylation|intracellular signal transduction|mesoderm formation|negative regulation of transcription, DNA-dependent|palate development|paraxial mesoderm morphogenesis|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|primary miRNA processing|regulation of binding|regulation of transforming growth factor beta receptor signaling pathway|response to cholesterol|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway|zygotic specification of dorsal/ventral axis	activin responsive factor complex|cytosol	activating transcription factor binding|co-SMAD binding|double-stranded DNA binding|I-SMAD binding|R-SMAD binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|type I transforming growth factor beta receptor binding|ubiquitin protein ligase binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(21)|liver(1)|lung(8)|prostate(2)|urinary_tract(1)	43						ACCTATATGCCTTCTTGTCAT	0.398													8	82					0.335167	0.336411	1	1	0	A	45374854	C	A	45374854	3	1	81	1	0	0	0	0	1	0	0	0	14812	681	24	4	430	4	SMAD2	18	45374854	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	785195	45374854	32702394	12958	16574											
SMAD2	4087	broad.mit.edu	37	18	45396887	45396887	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:45396887C>A	ENST00000402690.2	-	3	679	c.285G>T	c.(283-285)caG>caT	p.Q95H	SMAD2_ENST00000591214.1_Intron|SMAD2_ENST00000587353.1_5'UTR|SMAD2_ENST00000586040.1_Intron|SMAD2_ENST00000262160.6_Missense_Mutation_p.Q95H|SMAD2_ENST00000356825.4_Intron	NM_001003652.3	NP_001003652.1	Q15796	SMAD2_HUMAN	SMAD family member 2	95	MH1.				anterior/posterior pattern formation|cell fate commitment|common-partner SMAD protein phosphorylation|intracellular signal transduction|mesoderm formation|negative regulation of transcription, DNA-dependent|palate development|paraxial mesoderm morphogenesis|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|primary miRNA processing|regulation of binding|regulation of transforming growth factor beta receptor signaling pathway|response to cholesterol|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway|zygotic specification of dorsal/ventral axis	activin responsive factor complex|cytosol	activating transcription factor binding|co-SMAD binding|double-stranded DNA binding|I-SMAD binding|R-SMAD binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|type I transforming growth factor beta receptor binding|ubiquitin protein ligase binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(21)|liver(1)|lung(8)|prostate(2)|urinary_tract(1)	43						TTGTATCCCACTGATCTATCG	0.408													12	144					0.00136819	0.00145431	1	1	0	A	45396887	C	A	45396887	3	1	81	1	0	0	0	0	1	0	0	0	14812	564	20	4	1154	4	SMAD2	18	45396887	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	22033	45396887	32680361	12959	16575											
ZBTB7C	201501	broad.mit.edu	37	18	45556204	45556204	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:45556204G>A	ENST00000588982.1	-	4	1788	c.1287C>T	c.(1285-1287)ttC>ttT	p.F429F	ZBTB7C_ENST00000586438.1_Silent_p.F429F|ZBTB7C_ENST00000332053.2_Silent_p.F429F|ZBTB7C_ENST00000535628.2_Silent_p.F429F|ZBTB7C_ENST00000590800.1_Silent_p.F429F			A1YPR0	ZBT7C_HUMAN	zinc finger and BTB domain containing 7C	429						intracellular	nucleic acid binding|zinc ion binding			endometrium(8)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						AGTTGTGCACGAACTTGGCGT	0.592													17	23					0	0	1	0	0	A	45556204	G	A	45556204	2	1	81	1	0	0	0	0	0	0	0	1	17614	1049	37	1		1	ZBTB7C	18	45556204	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	159317	45556204	32521044	12960	16576											
ZBTB7C	201501	broad.mit.edu	37	18	45566387	45566387	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:45566387C>T	ENST00000588982.1	-	3	1593	c.1092G>A	c.(1090-1092)caG>caA	p.Q364Q	ZBTB7C_ENST00000586438.1_Silent_p.Q364Q|ZBTB7C_ENST00000332053.2_Silent_p.Q364Q|ZBTB7C_ENST00000535628.2_Silent_p.Q364Q|ZBTB7C_ENST00000590800.1_Silent_p.Q364Q			A1YPR0	ZBT7C_HUMAN	zinc finger and BTB domain containing 7C	364						intracellular	nucleic acid binding|zinc ion binding			endometrium(8)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						TGGGGCACTGCTGAGAGGCCT	0.622													29	61					0	0	1	0	0	T	45566387	C	T	45566387	2	4	81	1	0	0	0	0	0	0	0	1	17614	796	28	2		2	ZBTB7C	18	45566387	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	10183	45566387	32510861	12961	16577											
ZBTB7C	201501	broad.mit.edu	37	18	45566687	45566687	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:45566687G>A	ENST00000588982.1	-	3	1293	c.792C>T	c.(790-792)ttC>ttT	p.F264F	ZBTB7C_ENST00000586438.1_Silent_p.F264F|ZBTB7C_ENST00000332053.2_Silent_p.F264F|ZBTB7C_ENST00000535628.2_Silent_p.F264F|ZBTB7C_ENST00000590800.1_Silent_p.F264F			A1YPR0	ZBT7C_HUMAN	zinc finger and BTB domain containing 7C	264						intracellular	nucleic acid binding|zinc ion binding			endometrium(8)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						CAAAGGCACCGAAGTCCCCTG	0.592													11	31					0	0	1	0	0	A	45566687	G	A	45566687	2	1	81	1	0	0	0	0	0	0	0	1	17614	1049	37	1		1	ZBTB7C	18	45566687	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	300	45566687	32510561	12962	16578											
ZBTB7C	201501	broad.mit.edu	37	18	45567396	45567396	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:45567396C>T	ENST00000588982.1	-	3	584	c.83G>A	c.(82-84)cGg>cAg	p.R28Q	ZBTB7C_ENST00000586438.1_Missense_Mutation_p.R28Q|ZBTB7C_ENST00000332053.2_Missense_Mutation_p.R28Q|ZBTB7C_ENST00000535628.2_Missense_Mutation_p.R28Q|ZBTB7C_ENST00000590800.1_Missense_Mutation_p.R28Q			A1YPR0	ZBT7C_HUMAN	zinc finger and BTB domain containing 7C	28						intracellular	nucleic acid binding|zinc ion binding	p.R28Q(1)		endometrium(8)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						GCCATCGTGCCGTTGCTCATT	0.582													12	25					0	0	1	0	0	T	45567396	C	T	45567396	3	4	81	1	0	0	0	0	1	0	0	0	17614	652	23	1	1784	1	ZBTB7C	18	45567396	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	709	45567396	32509852	12963	16579											
SMAD7	4092	broad.mit.edu	37	18	46448197	46448197	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:46448197G>A	ENST00000262158.2	-	4	1112	c.826C>T	c.(826-828)Ctc>Ttc	p.L276F	SMAD7_ENST00000591805.1_Missense_Mutation_p.L61F|SMAD7_ENST00000589634.1_Missense_Mutation_p.L275F|SMAD7_ENST00000585986.1_5'UTR	NM_001190821.1|NM_005904.3	NP_001177750.1|NP_005895.1	O15105	SMAD7_HUMAN	SMAD family member 7	276	MH2.				adherens junction assembly|artery morphogenesis|BMP signaling pathway|cellular protein complex localization|negative regulation of BMP signaling pathway|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of peptidyl-serine phosphorylation|negative regulation of peptidyl-threonine phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription by competitive promoter binding|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of ubiquitin-protein ligase activity|pathway-restricted SMAD protein phosphorylation|positive regulation of anti-apoptosis|positive regulation of cell-cell adhesion|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein stabilization|regulation of activin receptor signaling pathway|response to laminar fluid shear stress|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	centrosome|cytosol|nucleolus|plasma membrane|transcription factor complex	activin binding|beta-catenin binding|I-SMAD binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transforming growth factor beta receptor, inhibitory cytoplasmic mediator activity|type I transforming growth factor beta receptor binding|ubiquitin protein ligase binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	10	Colorectal(1;0.0518)					ACACAGTAGAGCCTCCCCACT	0.532													16	24					0	0	1	0	0	A	46448197	G	A	46448197	3	1	81	1	0	0	0	0	1	0	0	0	14817	971	34	2	458	2	SMAD7	18	46448197	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	880801	46448197	31629051	12964	16580											
SMAD7	4092	broad.mit.edu	37	18	46476188	46476188	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:46476188C>T	ENST00000262158.2	-	1	893	c.607G>A	c.(607-609)Gaa>Aaa	p.E203K	SMAD7_ENST00000589634.1_Missense_Mutation_p.E203K	NM_001190821.1|NM_005904.3	NP_001177750.1|NP_005895.1	O15105	SMAD7_HUMAN	SMAD family member 7	203	MH1.				adherens junction assembly|artery morphogenesis|BMP signaling pathway|cellular protein complex localization|negative regulation of BMP signaling pathway|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of peptidyl-serine phosphorylation|negative regulation of peptidyl-threonine phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription by competitive promoter binding|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of ubiquitin-protein ligase activity|pathway-restricted SMAD protein phosphorylation|positive regulation of anti-apoptosis|positive regulation of cell-cell adhesion|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein stabilization|regulation of activin receptor signaling pathway|response to laminar fluid shear stress|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	centrosome|cytosol|nucleolus|plasma membrane|transcription factor complex	activin binding|beta-catenin binding|I-SMAD binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transforming growth factor beta receptor, inhibitory cytoplasmic mediator activity|type I transforming growth factor beta receptor binding|ubiquitin protein ligase binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	10	Colorectal(1;0.0518)					TCACCTAGTTCGCAGAGTCGG	0.567											OREG0024975	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	10					0	0	1	0	0	T	46476188	C	T	46476188	3	4	81	1	0	0	0	0	1	0	0	0	14817	893	31	1	689	1	SMAD7	18	46476188	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	27991	46476188	31601060	12965	16581											
DYM	54808	broad.mit.edu	37	18	46570554	46570554	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:46570554G>A	ENST00000269445.6	-	17	2338	c.1881C>T	c.(1879-1881)ttC>ttT	p.F627F	DYM_ENST00000442713.2_Silent_p.F437F|RP11-15F12.1_ENST00000584252.1_RNA	NM_017653.3	NP_060123.3	Q7RTS9	DYM_HUMAN	dymeclin	627						Golgi apparatus				NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	18						CCACATATTTGAATTTCAATT	0.433													45	86					0	0	1	0	0	A	46570554	G	A	46570554	2	1	81	1	0	0	0	0	0	0	0	1	4866	1281	45	2		2	DYM	18	46570554	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	94366	46570554	31506694	12966	16582											
DYM	54808	broad.mit.edu	37	18	46956757	46956757	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:46956757G>A	ENST00000269445.6	-	2	465	c.8C>T	c.(7-9)tCg>tTg	p.S3L	DYM_ENST00000442713.2_Missense_Mutation_p.S3L|DYM_ENST00000584977.1_5'UTR	NM_017653.3	NP_060123.3	Q7RTS9	DYM_HUMAN	dymeclin	3						Golgi apparatus				NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	18						GCTGCTATTCGATCCCATCTT	0.348													39	57					0	0	1	0	0	A	46956757	G	A	46956757	3	1	81	1	0	0	0	0	1	0	0	0	4866	1059	37	1	2065	1	DYM	18	46956757	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	386203	46956757	31120491	12967	16583											
C18orf32	497661	broad.mit.edu	37	18	47009974	47009974	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:47009974T>G	ENST00000318240.3	-	2	356	c.145A>C	c.(145-147)Aaa>Caa	p.K49Q	RPL17-C18orf32_ENST00000584895.1_Silent_p.T225T|RPL17-C18orf32_ENST00000332968.6_Silent_p.T187T|C18orf32_ENST00000579820.1_Missense_Mutation_p.K49Q|C18orf32_ENST00000582392.1_Missense_Mutation_p.K49Q	NM_001035005.3	NP_001030177.1	Q8TCD1	CR032_HUMAN	chromosome 18 open reading frame 32	49					positive regulation of I-kappaB kinase/NF-kappaB cascade		signal transducer activity			large_intestine(2)|lung(1)	3						ACTTTGCCTTTGTTTGTATCA	0.393													23	177					0	0	1	0	0	G	47009974	T	G	47009974	3	3	81	1	0	0	0	0	1	0	0	0	1912	1821	63	5	93	5	C18orf32	18	47009974	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	53217	47009974	31067274	12968	16584											
LIPG	9388	broad.mit.edu	37	18	47107794	47107794	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:47107794A>G	ENST00000261292.4	+	6	1081	c.803A>G	c.(802-804)gAg>gGg	p.E268G	LIPG_ENST00000577628.1_Missense_Mutation_p.E304G|LIPG_ENST00000427224.2_Missense_Mutation_p.E194G|LIPG_ENST00000580036.1_Missense_Mutation_p.E268G	NM_006033.2	NP_006024.1	Q9Y5X9	LIPE_HUMAN	lipase, endothelial	268					cholesterol homeostasis|high-density lipoprotein particle remodeling|phospholipid catabolic process|phospholipid homeostasis|positive regulation of cholesterol transport|positive regulation of high-density lipoprotein particle clearance|reverse cholesterol transport	extracellular space	heparin binding|lipoprotein lipase activity|phospholipase A1 activity|protein binding|triglyceride lipase activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(2)	18						GCAATCACAGAGGTGGTAAAA	0.463													33	59					0	0	1	0	0	G	47107794	A	G	47107794	3	3	81	1	0	0	0	0	1	0	0	0	8864	304	11	3	825	3	LIPG	18	47107794	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	97820	47107794	30969454	12969	16585											
ACAA2	10449	broad.mit.edu	37	18	47310300	47310300	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:47310300G>A	ENST00000285093.10	-	10	1586	c.1111C>T	c.(1111-1113)Cgt>Tgt	p.R371C	ACAA2_ENST00000587994.1_Splice_Site_p.R368C|ACAA2_ENST00000589432.1_Splice_Site_p.R316C	NM_006111.2	NP_006102.2	P42765	THIM_HUMAN	acetyl-CoA acyltransferase 2	371					anti-apoptosis|cholesterol biosynthetic process		acetyl-CoA C-acyltransferase activity|protein binding			large_intestine(2)|lung(7)|ovary(1)	10						CCACCTCGACGCCTGAAAAAG	0.408													9	18					0	0	1	0	0	A	47310300	G	A	47310300	5	1	81	1	0	0	0	0	0	0	1	0	105	1101	38	1	86	1	ACAA2	18	47310300	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	202506	47310300	30766948	12970	16586											
ACAA2	10449	broad.mit.edu	37	18	47329192	47329192	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:47329192G>T	ENST00000285093.10	-	2	523	c.48C>A	c.(46-48)ccC>ccA	p.P16P	ACAA2_ENST00000587994.1_Silent_p.P13P|RP11-886H22.1_ENST00000590532.2_3'UTR|ACAA2_ENST00000589432.1_5'UTR	NM_006111.2	NP_006102.2	P42765	THIM_HUMAN	acetyl-CoA acyltransferase 2	16					anti-apoptosis|cholesterol biosynthetic process		acetyl-CoA C-acyltransferase activity|protein binding			large_intestine(2)|lung(7)|ovary(1)	10						AAGCTCCAAAGGGCGTTCGCT	0.448													10	68					1.58986e-06	1.82794e-06	1	1	0	T	47329192	G	T	47329192	2	4	81	1	0	0	0	0	0	0	0	1	105	987	35	4		4	ACAA2	18	47329192	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	18892	47329192	30748056	12971	16587											
MYO5B	4645	broad.mit.edu	37	18	47389692	47389692	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:47389692C>T	ENST00000285039.7	-	29	4148	c.3849G>A	c.(3847-3849)ccG>ccA	p.P1283P	MYO5B_ENST00000324581.6_Silent_p.P424P|MYO5B_ENST00000587895.1_5'UTR	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	1283					protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		CATTAATGTTCGGCTCCTAGA	0.418													18	34					0	0	1	0	0	T	47389692	C	T	47389692	2	4	81	1	0	0	0	0	0	0	0	1	10127	871	31	1		1	MYO5B	18	47389692	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	60500	47389692	30687556	12972	16588											
MYO5B	4645	broad.mit.edu	37	18	47431075	47431075	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:47431075G>T	ENST00000285039.7	-	20	2837	c.2538C>A	c.(2536-2538)acC>acA	p.T846T		NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	846	Arg-rich.|IQ 3.|IQ 4.				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		ACATGGCCCGGGTGAAGGCCT	0.582													6	41					0.00116845	0.00124301	1	1	0	T	47431075	G	T	47431075	2	4	81	1	0	0	0	0	0	0	0	1	10127	1219	43	5		5	MYO5B	18	47431075	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	41383	47431075	30646173	12973	16589											
MYO5B	4645	broad.mit.edu	37	18	47479645	47479645	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:47479645G>A	ENST00000285039.7	-	14	2036	c.1737C>T	c.(1735-1737)atC>atT	p.I579I		NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	579	Myosin head-like.				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		TGGCCTTCAGGATATTGATCT	0.537													17	26					0	0	1	0	0	A	47479645	G	A	47479645	2	1	81	1	0	0	0	0	0	0	0	1	10127	1164	41	2		2	MYO5B	18	47479645	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	48570	47479645	30597603	12974	16590											
MYO5B	4645	broad.mit.edu	37	18	47480773	47480773	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:47480773C>A	ENST00000285039.7	-	13	1877	c.1578G>T	c.(1576-1578)caG>caT	p.Q526H		NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	526	Myosin head-like.				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		CATAGAGCTTCTGAGCCCAGT	0.567													11	31					2.27111e-07	2.65192e-07	1	1	0	A	47480773	C	A	47480773	3	1	81	1	0	0	0	0	1	0	0	0	10127	912	32	4	4080	4	MYO5B	18	47480773	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1128	47480773	30596475	12975	16591											
CXXC1	30827	broad.mit.edu	37	18	47809259	47809259	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:47809259G>A	ENST00000285106.6	-	14	2503	c.1789C>T	c.(1789-1791)Cgg>Tgg	p.R597W	CXXC1_ENST00000589940.1_Silent_p.C584C|CXXC1_ENST00000412036.2_Missense_Mutation_p.R601W	NM_001101654.1|NM_014593.3	NP_001095124.1|NP_055408.2	Q9P0U4	CXXC1_HUMAN	CXXC finger protein 1	597					histone H3-K4 methylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck|Set1C/COMPASS complex	protein binding|unmethylated CpG binding|zinc ion binding			autonomic_ganglia(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	24						TCCGCACGCCGCAGCTTCTCC	0.612													12	20					0	0	1	0	0	A	47809259	G	A	47809259	3	1	81	1	0	0	0	0	1	0	0	0	4120	1086	38	1	189	1	CXXC1	18	47809259	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	328486	47809259	30267989	12976	16592											
CXXC1	30827	broad.mit.edu	37	18	47809307	47809307	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:47809307G>A	ENST00000285106.6	-	14	2455	c.1741C>T	c.(1741-1743)Cgc>Tgc	p.R581C	CXXC1_ENST00000589940.1_Silent_p.A568A|CXXC1_ENST00000412036.2_Missense_Mutation_p.R585C	NM_001101654.1|NM_014593.3	NP_001095124.1|NP_055408.2	Q9P0U4	CXXC1_HUMAN	CXXC finger protein 1	581					histone H3-K4 methylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck|Set1C/COMPASS complex	protein binding|unmethylated CpG binding|zinc ion binding			autonomic_ganglia(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	24						TTGGGCAGGCGGCAGAAGTCA	0.612													4	25					0	0	1	0	0	A	47809307	G	A	47809307	3	1	81	1	0	0	0	0	1	0	0	0	4120	1116	39	1	237	1	CXXC1	18	47809307	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	48	47809307	30267941	12977	16593											
SKA1	220134	broad.mit.edu	37	18	47917508	47917508	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:47917508G>A	ENST00000285116.3	+	6	675	c.464G>A	c.(463-465)cGc>cAc	p.R155H	SKA1_ENST00000417656.2_Missense_Mutation_p.R109H|SKA1_ENST00000398452.2_Missense_Mutation_p.R155H|SKA1_ENST00000488454.1_Missense_Mutation_p.R4H	NM_001039535.2|NM_145060.3	NP_001034624.1|NP_659497.1	Q96BD8	SKA1_HUMAN	spindle and kinetochore associated complex subunit 1	155					cell division|chromosome segregation|mitotic anaphase|mitotic prometaphase|regulation of microtubule polymerization or depolymerization	condensed chromosome outer kinetochore|cytosol|spindle microtubule	microtubule binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(1)|prostate(1)	13						ATGAAATCCCGCTTAACCTAT	0.259													17	25					0	0	1	0	0	A	47917508	G	A	47917508	3	1	81	1	0	0	0	0	1	0	0	0	14407	1087	38	1	482	1	SKA1	18	47917508	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	108201	47917508	30159740	12978	16594											
DCC	1630	broad.mit.edu	37	18	50450170	50450170	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:50450170C>A	ENST00000442544.2	+	4	1407	c.791C>A	c.(790-792)tCt>tAt	p.S264Y	DCC_ENST00000412726.1_Missense_Mutation_p.S112Y	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	264	Ig-like C2-type 3.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		TGTTGTGTTTCTGGCTATCCT	0.408													28	37					9.39395e-14	1.1871e-13	1	1	0	A	50450170	C	A	50450170	3	1	81	1	0	0	0	0	1	0	0	0	4305	913	32	4	805	4	DCC	18	50450170	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2532662	50450170	27627078	12979	16595											
DCC	1630	broad.mit.edu	37	18	50592436	50592436	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:50592436A>G	ENST00000442544.2	+	7	1777	c.1161A>G	c.(1159-1161)atA>atG	p.I387M	DCC_ENST00000580146.1_3'UTR|DCC_ENST00000581580.1_Missense_Mutation_p.I42M|DCC_ENST00000412726.1_Missense_Mutation_p.I235M	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	387	Ig-like C2-type 4.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		ACTTACGGATACTTGGGGTGG	0.428													13	135					0	0	1	0	0	G	50592436	A	G	50592436	3	3	81	1	0	0	0	0	1	0	0	0	4305	381	14	3	1187	3	DCC	18	50592436	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	142266	50592436	27484812	12980	16596											
DCC	1630	broad.mit.edu	37	18	50683750	50683750	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:50683750C>A	ENST00000442544.2	+	8	1902	c.1286C>A	c.(1285-1287)cCt>cAt	p.P429H	DCC_ENST00000580146.1_3'UTR|DCC_ENST00000581580.1_Missense_Mutation_p.P84H|DCC_ENST00000412726.1_Missense_Mutation_p.P277H	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	429	Fibronectin type-III 1.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane		p.P429H(1)		NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		AGTGTCCTCCCTTCGGCTCCC	0.542													15	148					1.15088e-07	1.34837e-07	1	1	0	A	50683750	C	A	50683750	3	1	81	1	0	0	0	0	1	0	0	0	4305	681	24	4	1316	4	DCC	18	50683750	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	91314	50683750	27393498	12981	16597											
MBD2	8932	broad.mit.edu	37	18	51715253	51715253	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:51715253C>A	ENST00000256429.3	-	3	1059	c.831G>T	c.(829-831)caG>caT	p.Q277H		NM_003927.4	NP_003918.1	Q9UBB5	MBD2_HUMAN	methyl-CpG binding domain protein 2	277					transcription, DNA-dependent		C2H2 zinc finger domain binding|methyl-CpG binding|satellite DNA binding			breast(1)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1)	8				Colorectal(16;0.0212)|READ - Rectum adenocarcinoma(32;0.188)	Hexobarbital(DB01355)	CCTGACGTGGCTGTTCATTCA	0.333													10	153					3.07112e-06	3.5041e-06	1	1	0	A	51715253	C	A	51715253	3	1	81	1	0	0	0	0	1	0	0	0	9393	796	28	4	420	4	MBD2	18	51715253	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1031503	51715253	26361995	12982	16598											
POLI	11201	broad.mit.edu	37	18	51809233	51809233	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:51809233C>T	ENST00000579534.1	+	6	966	c.823C>T	c.(823-825)Ctt>Ttt	p.L275F	POLI_ENST00000579434.1_Missense_Mutation_p.L172F|POLI_ENST00000406285.3_Missense_Mutation_p.L196F|POLI_ENST00000217800.5_Missense_Mutation_p.L149F	NM_007195.2	NP_009126.2	Q9UNA4	POLI_HUMAN	polymerase (DNA directed) iota	275					DNA repair|DNA replication	nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(5)|ovary(3)|urinary_tract(1)	26				Colorectal(16;0.0234)|READ - Rectum adenocarcinoma(59;0.197)		TGCCAAATGTCTTGAAGCACT	0.303								DNA polymerases (catalytic subunits)					3	3					0	0	1	0	0	T	51809233	C	T	51809233	3	4	81	1	0	0	0	0	1	0	0	0	12251	913	32	2	845	2	POLI	18	51809233	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	93980	51809233	26268015	12983	16599											
POLI	11201	broad.mit.edu	37	18	51818404	51818404	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:51818404G>T	ENST00000579534.1	+	9	1543	c.1400G>T	c.(1399-1401)aGt>aTt	p.S467I	POLI_ENST00000579434.1_Missense_Mutation_p.S364I|POLI_ENST00000406285.3_Missense_Mutation_p.S388I|POLI_ENST00000582366.1_3'UTR|POLI_ENST00000217800.5_Missense_Mutation_p.S341I	NM_007195.2	NP_009126.2	Q9UNA4	POLI_HUMAN	polymerase (DNA directed) iota	467					DNA repair|DNA replication	nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(5)|ovary(3)|urinary_tract(1)	26				Colorectal(16;0.0234)|READ - Rectum adenocarcinoma(59;0.197)		GGCAAGCACAGTTTTGTAAGT	0.333								DNA polymerases (catalytic subunits)					25	50					6.32553e-13	7.94418e-13	1	1	0	T	51818404	G	T	51818404	3	4	81	1	0	0	0	0	1	0	0	0	12251	1029	36	4	1434	4	POLI	18	51818404	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	9171	51818404	26258844	12984	16600											
POLI	11201	broad.mit.edu	37	18	51820658	51820658	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:51820658G>A	ENST00000579534.1	+	10	2187	c.2044G>A	c.(2044-2046)Gca>Aca	p.A682T	POLI_ENST00000579434.1_Missense_Mutation_p.A579T|POLI_ENST00000406285.3_Missense_Mutation_p.A603T|POLI_ENST00000217800.5_Missense_Mutation_p.A556T	NM_007195.2	NP_009126.2	Q9UNA4	POLI_HUMAN	polymerase (DNA directed) iota	682					DNA repair|DNA replication	nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(5)|ovary(3)|urinary_tract(1)	26				Colorectal(16;0.0234)|READ - Rectum adenocarcinoma(59;0.197)		GCAAACAGTAGCAACAGACTC	0.393								DNA polymerases (catalytic subunits)					4	48					0	0	1	0	0	A	51820658	G	A	51820658	3	1	81	1	0	0	0	0	1	0	0	0	12251	971	34	2	2082	2	POLI	18	51820658	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2254	51820658	26256590	12985	16601											
C18orf54	162681	broad.mit.edu	37	18	51889146	51889146	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:51889146A>G	ENST00000300091.5	+	4	927	c.595A>G	c.(595-597)Aaa>Gaa	p.K199E	C18orf54_ENST00000382911.4_Missense_Mutation_p.K360E|C18orf54_ENST00000578138.1_5'UTR	NM_173529.4	NP_775800.3	Q8IYD9	CR054_HUMAN	chromosome 18 open reading frame 54	199						extracellular region				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	15				Colorectal(16;0.0206)|READ - Rectum adenocarcinoma(59;0.186)		ATTAGGTGACAAAATTGAATT	0.333													5	28					0	0	1	0	0	G	51889146	A	G	51889146	3	3	81	1	0	0	0	0	1	0	0	0	1915	131	5	3	605	3	C18orf54	18	51889146	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	68488	51889146	26188102	12986	16602											
CCDC68	80323	broad.mit.edu	37	18	52586565	52586565	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:52586565C>A	ENST00000591504.1	-	9	1000	c.726G>T	c.(724-726)caG>caT	p.Q242H	CCDC68_ENST00000337363.4_Missense_Mutation_p.Q242H|CCDC68_ENST00000432185.1_Missense_Mutation_p.Q242H	NM_025214.2	NP_079490.1	Q9H2F9	CCD68_HUMAN	coiled-coil domain containing 68	242										breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(3)|stomach(1)	14				Colorectal(16;0.0256)|READ - Rectum adenocarcinoma(59;0.21)		GATGAGAGATCTGCTCCTGGA	0.453													9	62					0.00621372	0.00649472	1	1	0	A	52586565	C	A	52586565	3	1	81	1	0	0	0	0	1	0	0	0	2860	912	32	4	297	4	CCDC68	18	52586565	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	697419	52586565	25490683	12987	16603											
TCF4	6925	broad.mit.edu	37	18	52895571	52895571	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:52895571G>T	ENST00000354452.3	-	19	2512	c.1901C>A	c.(1900-1902)gCt>gAt	p.A634D	TCF4_ENST00000565018.2_Missense_Mutation_p.A634D|TCF4_ENST00000537856.3_Missense_Mutation_p.A500D|TCF4_ENST00000570287.2_Missense_Mutation_p.A470D|TCF4_ENST00000564999.1_Missense_Mutation_p.A630D|TCF4_ENST00000561831.3_Missense_Mutation_p.A470D|TCF4_ENST00000561992.1_Missense_Mutation_p.A500D|TCF4_ENST00000457482.3_Missense_Mutation_p.A474D|TCF4_ENST00000398339.1_Missense_Mutation_p.A736D|TCF4_ENST00000356073.4_Missense_Mutation_p.A630D|TCF4_ENST00000568673.1_Missense_Mutation_p.A610D|TCF4_ENST00000566279.1_Missense_Mutation_p.A574D|TCF4_ENST00000564228.1_Missense_Mutation_p.A559D|TCF4_ENST00000567880.1_Missense_Mutation_p.A570D|TCF4_ENST00000568740.1_Missense_Mutation_p.A605D|TCF4_ENST00000566286.1_Missense_Mutation_p.A627D|TCF4_ENST00000564403.2_Missense_Mutation_p.A640D|TCF4_ENST00000544241.2_Missense_Mutation_p.A563D|TCF4_ENST00000537578.1_Missense_Mutation_p.A610D|TCF4_ENST00000540999.1_Missense_Mutation_p.A606D|TCF4_ENST00000543082.1_Missense_Mutation_p.A588D|TCF4_ENST00000570177.2_Missense_Mutation_p.A500D	NM_001083962.1	NP_001077431.1	P15884	ITF2_HUMAN	transcription factor 4	630	Class A specific domain.				positive regulation of neuron differentiation|protein-DNA complex assembly|transcription initiation from RNA polymerase II promoter	transcription factor complex	E-box binding|protein C-terminus binding|protein heterodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity|TFIIB-class binding transcription factor activity|TFIIB-class transcription factor binding			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	41				Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718)		CAGACACGCAGCTTTCGGATT	0.532													28	43					7.01153e-11	8.62519e-11	1	1	0	T	52895571	G	T	52895571	3	4	81	1	0	0	0	0	1	0	0	0	15755	971	34	4	118	4	TCF4	18	52895571	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	309006	52895571	25181677	12988	16604											
TCF4	6925	broad.mit.edu	37	18	52896162	52896162	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:52896162G>T	ENST00000354452.3	-	18	2406	c.1795C>A	c.(1795-1797)Ctc>Atc	p.L599I	TCF4_ENST00000565018.2_Missense_Mutation_p.L599I|TCF4_ENST00000537856.3_Missense_Mutation_p.L465I|TCF4_ENST00000570287.2_Missense_Mutation_p.L435I|TCF4_ENST00000564999.1_Missense_Mutation_p.L595I|TCF4_ENST00000561831.3_Missense_Mutation_p.L435I|TCF4_ENST00000561992.1_Missense_Mutation_p.L465I|TCF4_ENST00000457482.3_Missense_Mutation_p.L439I|TCF4_ENST00000398339.1_Missense_Mutation_p.L701I|TCF4_ENST00000356073.4_Missense_Mutation_p.L595I|TCF4_ENST00000568673.1_Missense_Mutation_p.L575I|TCF4_ENST00000566279.1_Missense_Mutation_p.L539I|TCF4_ENST00000564228.1_Missense_Mutation_p.L524I|TCF4_ENST00000567880.1_Missense_Mutation_p.L535I|TCF4_ENST00000568740.1_Missense_Mutation_p.L570I|TCF4_ENST00000566286.1_Missense_Mutation_p.L592I|TCF4_ENST00000564403.2_Missense_Mutation_p.L605I|TCF4_ENST00000544241.2_Missense_Mutation_p.L528I|TCF4_ENST00000537578.1_Missense_Mutation_p.L575I|TCF4_ENST00000540999.1_Missense_Mutation_p.L571I|TCF4_ENST00000543082.1_Missense_Mutation_p.L553I|TCF4_ENST00000570177.2_Missense_Mutation_p.L465I	NM_001083962.1	NP_001077431.1	P15884	ITF2_HUMAN	transcription factor 4	595	Helix-loop-helix motif.				positive regulation of neuron differentiation|protein-DNA complex assembly|transcription initiation from RNA polymerase II promoter	transcription factor complex	E-box binding|protein C-terminus binding|protein heterodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity|TFIIB-class binding transcription factor activity|TFIIB-class transcription factor binding			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	41				Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718)		TCACTCTTGAGGTGGAGCTGC	0.617													5	67					0.217242	0.218703	1	1	0	T	52896162	G	T	52896162	3	4	81	1	0	0	0	0	1	0	0	0	15755	1000	35	4	228	4	TCF4	18	52896162	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	591	52896162	25181086	12989	16605											
WDR7	23335	broad.mit.edu	37	18	54398622	54398622	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:54398622G>T	ENST00000254442.3	+	14	1994	c.1783G>T	c.(1783-1785)Gat>Tat	p.D595Y	WDR7_ENST00000589935.1_Intron|WDR7_ENST00000357574.3_Missense_Mutation_p.D595Y	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	595										NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		AGGTGCATTGGATCGTTGTGT	0.348													18	40					6.49762e-13	8.15126e-13	1	1	0	T	54398622	G	T	54398622	3	4	81	1	0	0	0	0	1	0	0	0	17380	1174	41	5	1833	5	WDR7	18	54398622	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1502460	54398622	23678626	12990	16606											
WDR7	23335	broad.mit.edu	37	18	54424107	54424107	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:54424107T>C	ENST00000254442.3	+	15	2494	c.2283T>C	c.(2281-2283)gaT>gaC	p.D761D	WDR7_ENST00000589935.1_Intron|WDR7_ENST00000357574.3_Silent_p.D761D	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	761										NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		TCCTTGATGATGAAGAGGAGG	0.413													5	46					0	0	1	0	0	C	54424107	T	C	54424107	2	2	81	1	0	0	0	0	0	0	0	1	17380	1461	51	3		3	WDR7	18	54424107	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	25485	54424107	23653141	12991	16607											
WDR7	23335	broad.mit.edu	37	18	54629713	54629713	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:54629713C>T	ENST00000254442.3	+	26	4328	c.4117C>T	c.(4117-4119)Cgc>Tgc	p.R1373C	WDR7_ENST00000589935.1_Intron|WDR7_ENST00000357574.3_Missense_Mutation_p.R1340C	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	1373										NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		AGTTGGAGCTCGCCATGGTTC	0.423													19	24					0	0	1	0	0	T	54629713	C	T	54629713	3	4	81	1	0	0	0	0	1	0	0	0	17380	884	31	1	4215	1	WDR7	18	54629713	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	205606	54629713	23447535	12992	16608											
ONECUT2	9480	broad.mit.edu	37	18	55103710	55103710	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:55103710C>T	ENST00000491143.2	+	1	794	c.762C>T	c.(760-762)caC>caT	p.H254H		NM_004852.2	NP_004843.2	O95948	ONEC2_HUMAN	one cut homeobox 2	254					organ morphogenesis	nucleus	sequence-specific DNA binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(4)|ovary(2)|skin(1)	15		Colorectal(73;0.234)		READ - Rectum adenocarcinoma(59;0.227)|Colorectal(16;0.245)		CGCCGGGCCACGACAAAATGC	0.706													4	36					0	0	1	0	0	T	55103710	C	T	55103710	2	4	81	1	0	0	0	0	0	0	0	1	10917	535	19	1		1	ONECUT2	18	55103710	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	473997	55103710	22973538	12993	16609											
NARS	4677	broad.mit.edu	37	18	55283209	55283209	+	Splice_Site	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:55283209T>G	ENST00000256854.5	-	3	549		c.e3-2		NARS_ENST00000423481.2_Splice_Site	NM_004539.3	NP_004530.1	O43776	SYNC_HUMAN	asparaginyl-tRNA synthetase						asparaginyl-tRNA aminoacylation	cytosol|soluble fraction	asparagine-tRNA ligase activity|ATP binding|nucleic acid binding|protein binding			breast(1)|endometrium(5)|large_intestine(5)|lung(8)|skin(1)	20		Colorectal(73;0.227)			L-Asparagine(DB00174)	CATCAAAGCCTTGGGTAGGGA	0.348													3	49					0	0	1	0	0	G	55283209	T	G	55283209	5	3	81	1	0	0	0	0	0	0	1	0	10218	1623	56	5	1602	5	NARS	18	55283209	Splice_Site	SNP	T	TCGA-DU-6392-01A-11D-1705-08	179499	55283209	22794039	12994	16610											
ATP8B1	5205	broad.mit.edu	37	18	55328429	55328429	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:55328429G>T	ENST00000536015.1	-	22	2803	c.2684C>A	c.(2683-2685)gCc>gAc	p.A895D	RP11-35G9.3_ENST00000591854.1_RNA|RP11-35G9.3_ENST00000592201.1_RNA|ATP8B1_ENST00000283684.4_Missense_Mutation_p.A895D|RP11-35G9.3_ENST00000599199.1_RNA|RP11-35G9.5_ENST00000588925.1_RNA	NM_005603.4	NP_005594	O43520	AT8B1_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 1	895					ATP biosynthetic process|bile acid and bile salt transport|negative regulation of transcription, DNA-dependent	apical plasma membrane|integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(19)|ovary(3)|prostate(1)	53		Colorectal(73;0.229)				CACGTCATTGGCCCCATCTCC	0.567													12	23					1.5842e-08	1.88841e-08	1	1	0	T	55328429	G	T	55328429	3	4	81	1	0	0	0	0	1	0	0	0	1192	1203	42	5	1099	5	ATP8B1	18	55328429	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	45220	55328429	22748819	12995	16611											
ATP8B1	5205	broad.mit.edu	37	18	55351303	55351303	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:55351303G>A	ENST00000536015.1	-	15	1714	c.1595C>T	c.(1594-1596)gCa>gTa	p.A532V	ATP8B1_ENST00000283684.4_Missense_Mutation_p.A532V|RP11-35G9.3_ENST00000599199.1_RNA|RP11-35G9.5_ENST00000588925.1_RNA	NM_005603.4	NP_005594	O43520	AT8B1_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 1	532					ATP biosynthetic process|bile acid and bile salt transport|negative regulation of transcription, DNA-dependent	apical plasma membrane|integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(19)|ovary(3)|prostate(1)	53		Colorectal(73;0.229)				GTGGCAAACTGCGAGCAAGAA	0.453													30	28					0	0	1	0	0	A	55351303	G	A	55351303	3	1	81	1	0	0	0	0	1	0	0	0	1192	1319	46	2	2216	2	ATP8B1	18	55351303	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	22874	55351303	22725945	12996	16612											
ALPK2	115701	broad.mit.edu	37	18	56196431	56196431	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:56196431G>T	ENST00000361673.3	-	6	5606	c.5393C>A	c.(5392-5394)cCt>cAt	p.P1798H		NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	1798	Ig-like 2.						ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						AGAGTGTTCAGGGAACATCTC	0.363													35	53					2.09667e-21	2.74506e-21	1	1	0	T	56196431	G	T	56196431	3	4	81	1	0	0	0	0	1	0	0	0	541	1000	35	4	1151	4	ALPK2	18	56196431	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	845128	56196431	21880817	12997	16613											
ALPK2	115701	broad.mit.edu	37	18	56202619	56202619	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:56202619G>T	ENST00000361673.3	-	5	5013	c.4800C>A	c.(4798-4800)ccC>ccA	p.P1600P		NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	1600							ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						CAGGAGAAGAGGGCAAAGGTT	0.433													30	63					2.4375e-19	3.17295e-19	1	1	0	T	56202619	G	T	56202619	2	4	81	1	0	0	0	0	0	0	0	1	541	987	35	4		4	ALPK2	18	56202619	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	6188	56202619	21874629	12998	16614											
ALPK2	115701	broad.mit.edu	37	18	56205160	56205160	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:56205160T>C	ENST00000361673.3	-	5	2472	c.2259A>G	c.(2257-2259)ccA>ccG	p.P753P	RP11-1151B14.4_ENST00000591360.1_RNA	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	753							ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						AGAACACACCTGGGGACATAG	0.493													19	170					0	0	1	0	0	C	56205160	T	C	56205160	2	2	81	1	0	0	0	0	0	0	0	1	541	1567	55	3		3	ALPK2	18	56205160	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	2541	56205160	21872088	12999	16615											
MALT1	10892	broad.mit.edu	37	18	56376782	56376782	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:56376782A>G	ENST00000348428.3	+	5	1080	c.822A>G	c.(820-822)ctA>ctG	p.L274L	RP11-126O1.4_ENST00000588835.1_RNA|MALT1_ENST00000345724.3_Silent_p.L274L	NM_006785.2|NM_173844.1	NP_006776.1|NP_776216.1	Q9UDY8	MALT1_HUMAN	mucosa associated lymphoid tissue lymphoma translocation gene 1	274	Ig-like C2-type 2.				activation of NF-kappaB-inducing kinase activity|anti-apoptosis|nuclear export|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of protein ubiquitination|positive regulation of T cell cytokine production|protein oligomerization|proteolysis|T cell receptor signaling pathway	CBM complex|cytosol|nucleus|perinuclear region of cytoplasm	cysteine-type endopeptidase activity|protein self-association|signal transducer activity|ubiquitin-protein ligase activity			central_nervous_system(1)|large_intestine(7)|lung(1)|ovary(2)|skin(1)	12						CCAAAAAGCTATACATGGTAG	0.368			T	BIRC3	MALT								20	27					0	0	1	0	0	G	56376782	A	G	56376782	2	3	81	1	0	0	0	0	0	0	0	1	9252	436	16	3		3	MALT1	18	56376782	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	171622	56376782	21700466	13000	16616											
ZNF532	55205	broad.mit.edu	37	18	56586058	56586058	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:56586058G>T	ENST00000336078.4	+	4	1315	c.539G>T	c.(538-540)gGa>gTa	p.G180V	ZNF532_ENST00000591083.1_Missense_Mutation_p.G180V|ZNF532_ENST00000591230.1_Missense_Mutation_p.G180V|ZNF532_ENST00000591808.1_Missense_Mutation_p.G180V|ZNF532_ENST00000589288.1_Missense_Mutation_p.G180V	NM_018181.4	NP_060651.2	Q9HCE3	ZN532_HUMAN	zinc finger protein 532	180					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1)	52						AAGGCACTCGGAGGGGAAAAC	0.507													20	99					1.15919e-05	1.30633e-05	1	1	0	T	56586058	G	T	56586058	3	4	81	1	0	0	0	0	1	0	0	0	18029	1174	41	5	541	5	ZNF532	18	56586058	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	209276	56586058	21491190	13001	16617											
ZNF532	55205	broad.mit.edu	37	18	56586209	56586209	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:56586209C>A	ENST00000336078.4	+	4	1466	c.690C>A	c.(688-690)agC>agA	p.S230R	ZNF532_ENST00000591083.1_Missense_Mutation_p.S230R|ZNF532_ENST00000591230.1_Missense_Mutation_p.S230R|ZNF532_ENST00000591808.1_Missense_Mutation_p.S230R|ZNF532_ENST00000589288.1_Missense_Mutation_p.S230R	NM_018181.4	NP_060651.2	Q9HCE3	ZN532_HUMAN	zinc finger protein 532	230					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1)	52						TGAAGGAAAGCTCTGACAAGG	0.438													7	75					8.12818e-05	8.94031e-05	1	1	0	A	56586209	C	A	56586209	3	1	81	1	0	0	0	0	1	0	0	0	18029	796	28	4	692	4	ZNF532	18	56586209	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	151	56586209	21491039	13002	16618											
ZNF532	55205	broad.mit.edu	37	18	56586416	56586416	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:56586416G>A	ENST00000336078.4	+	4	1673	c.897G>A	c.(895-897)ccG>ccA	p.P299P	ZNF532_ENST00000591083.1_Silent_p.P299P|ZNF532_ENST00000591230.1_Silent_p.P299P|ZNF532_ENST00000591808.1_Silent_p.P299P|ZNF532_ENST00000589288.1_Silent_p.P299P	NM_018181.4	NP_060651.2	Q9HCE3	ZN532_HUMAN	zinc finger protein 532	299					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1)	52						AATCCTCCCCGTTACCAAAAG	0.542													46	70					0	0	1	0	0	A	56586416	G	A	56586416	2	1	81	1	0	0	0	0	0	0	0	1	18029	1132	40	1		1	ZNF532	18	56586416	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	207	56586416	21490832	13003	16619											
ZNF532	55205	broad.mit.edu	37	18	56586803	56586803	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:56586803C>T	ENST00000336078.4	+	4	2060	c.1284C>T	c.(1282-1284)gtC>gtT	p.V428V	ZNF532_ENST00000591083.1_Silent_p.V428V|ZNF532_ENST00000591230.1_Silent_p.V428V|ZNF532_ENST00000591808.1_Silent_p.V428V|ZNF532_ENST00000589288.1_Silent_p.V428V	NM_018181.4	NP_060651.2	Q9HCE3	ZN532_HUMAN	zinc finger protein 532	428					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1)	52						AGTCTGCGGTCGTGACCAATG	0.602													5	9					0	0	1	0	0	T	56586803	C	T	56586803	2	4	81	1	0	0	0	0	0	0	0	1	18029	871	31	1		1	ZNF532	18	56586803	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	387	56586803	21490445	13004	16620											
ZNF532	55205	broad.mit.edu	37	18	56587422	56587422	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:56587422T>C	ENST00000336078.4	+	4	2679	c.1903T>C	c.(1903-1905)Tac>Cac	p.Y635H	ZNF532_ENST00000591083.1_Missense_Mutation_p.Y635H|ZNF532_ENST00000591230.1_Missense_Mutation_p.Y635H|ZNF532_ENST00000591808.1_Missense_Mutation_p.Y635H|ZNF532_ENST00000589288.1_Missense_Mutation_p.Y635H	NM_018181.4	NP_060651.2	Q9HCE3	ZN532_HUMAN	zinc finger protein 532	635					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1)	52						GACCCAGCACTACGACAGACG	0.537													19	26					0	0	1	0	0	C	56587422	T	C	56587422	3	2	81	1	0	0	0	0	1	0	0	0	18029	1522	53	3	1905	3	ZNF532	18	56587422	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	619	56587422	21489826	13005	16621											
ZNF532	55205	broad.mit.edu	37	18	56646333	56646333	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:56646333C>T	ENST00000336078.4	+	9	3973	c.3197C>T	c.(3196-3198)tCg>tTg	p.S1066L	ZNF532_ENST00000588956.1_3'UTR|ZNF532_ENST00000591083.1_Missense_Mutation_p.S1066L|ZNF532_ENST00000591230.1_Missense_Mutation_p.S1066L|ZNF532_ENST00000591808.1_Missense_Mutation_p.S1066L|ZNF532_ENST00000589288.1_Missense_Mutation_p.S1066L	NM_018181.4	NP_060651.2	Q9HCE3	ZN532_HUMAN	zinc finger protein 532	1066					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1)	52						TCTTTCAGCTCGTCCCACAGC	0.507													37	83					0	0	1	0	0	T	56646333	C	T	56646333	3	4	81	1	0	0	0	0	1	0	0	0	18029	893	31	1	3219	1	ZNF532	18	56646333	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	58911	56646333	21430915	13006	16622											
ZNF532	55205	broad.mit.edu	37	18	56648824	56648824	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:56648824delA	ENST00000336078.4	+	10	4162	c.3386delA	c.(3385-3387)gaafs	p.E1129fs	ZNF532_ENST00000591083.1_Frame_Shift_Del_p.E1129fs|ZNF532_ENST00000589288.1_Frame_Shift_Del_p.E1129fs|ZNF532_ENST00000588956.1_3'UTR|ZNF532_ENST00000591808.1_Frame_Shift_Del_p.E1129fs|ZNF532_ENST00000591230.1_Frame_Shift_Del_p.E1129fs	NM_018181.4	NP_060651.2	Q9HCE3	ZN532_HUMAN	zinc finger protein 532	1129					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1)	52						AATGAGGAGGAAACAGAAATA	0.408													7	53	---	---	---	---						-	56648824	A	-	56648824	7	5	81	1	0	1	0	1	0	0	0	0	18029	246	9	0	3412	0	ZNF532	18	56648824	Frame_Shift_Del	DEL	A	TCGA-DU-6392-01A-11D-1705-08	2491	56648824	21428424	13007	16623											
CCBE1	147372	broad.mit.edu	37	18	57134065	57134065	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:57134065G>T	ENST00000439986.4	-	5	496	c.459C>A	c.(457-459)acC>acA	p.T153T	CCBE1_ENST00000398179.2_5'UTR	NM_133459.3	NP_597716.1	Q6UXH8	CCBE1_HUMAN	collagen and calcium binding EGF domains 1	153	EGF-like; calcium-binding (Potential).				lymphangiogenesis|sprouting angiogenesis|venous blood vessel morphogenesis	collagen	calcium ion binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(3)	24		Colorectal(73;0.175)				AGCTGCCCAAGGTATTGATGC	0.488													8	98					0.000157383	0.000171784	1	1	0	T	57134065	G	T	57134065	2	4	81	1	0	0	0	0	0	0	0	1	2749	987	35	4		4	CCBE1	18	57134065	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	485241	57134065	20943183	13008	16624											
MC4R	4160	broad.mit.edu	37	18	58039275	58039275	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:58039275A>G	ENST00000299766.3	-	1	726	c.308T>C	c.(307-309)gTc>gCc	p.V103A		NM_005912.2	NP_005903.2	P32245	MC4R_HUMAN	melanocortin 4 receptor	103			V -> I (in dbSNP:rs2229616).		feeding behavior|G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of bone resorption|positive regulation of cAMP biosynthetic process	integral to membrane|plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|ubiquitin protein ligase binding			endometrium(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	17		Colorectal(73;0.0946)				TAGGGTGATGACAATGGTTTC	0.433													33	55					0	0	1	0	0	G	58039275	A	G	58039275	3	3	81	1	0	0	0	0	1	0	0	0	9416	275	10	3	694	3	MC4R	18	58039275	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	905210	58039275	20037973	13009	16625											
MC4R	4160	broad.mit.edu	37	18	58039503	58039503	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:58039503G>A	ENST00000299766.3	-	1	498	c.80C>T	c.(79-81)gCc>gTc	p.A27V		NM_005912.2	NP_005903.2	P32245	MC4R_HUMAN	melanocortin 4 receptor	27					feeding behavior|G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of bone resorption|positive regulation of cAMP biosynthetic process	integral to membrane|plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|ubiquitin protein ligase binding			endometrium(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	17		Colorectal(73;0.0946)				GGACTCACTGGCATTGCTGTG	0.532													19	33					0	0	1	0	0	A	58039503	G	A	58039503	3	1	81	1	0	0	0	0	1	0	0	0	9416	1203	42	2	922	2	MC4R	18	58039503	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	228	58039503	20037745	13010	16626											
CDH20	28316	broad.mit.edu	37	18	59166563	59166563	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:59166563A>G	ENST00000262717.4	+	3	789	c.391A>G	c.(391-393)Act>Gct	p.T131A	CDH20_ENST00000538374.1_Missense_Mutation_p.T131A|CDH20_ENST00000536675.2_Missense_Mutation_p.T131A			Q9HBT6	CAD20_HUMAN	cadherin 20, type 2	131	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				AGCCCAGTATACTCTAAGGGC	0.542													8	13					0	0	1	0	0	G	59166563	A	G	59166563	3	3	81	1	0	0	0	0	1	0	0	0	3128	391	14	3	397	3	CDH20	18	59166563	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	1127060	59166563	18910685	13011	16627											
CDH20	28316	broad.mit.edu	37	18	59170288	59170288	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:59170288C>T	ENST00000262717.4	+	5	1162	c.764C>T	c.(763-765)gCt>gTt	p.A255V	CDH20_ENST00000538374.1_Missense_Mutation_p.A255V|CDH20_ENST00000536675.2_Missense_Mutation_p.A255V			Q9HBT6	CAD20_HUMAN	cadherin 20, type 2	255	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				GGAGGATTAGCTGGGACCACA	0.507											OREG0025026	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	27	75					0	0	1	0	0	T	59170288	C	T	59170288	3	4	81	1	0	0	0	0	1	0	0	0	3128	797	28	2	778	2	CDH20	18	59170288	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3725	59170288	18906960	13012	16628											
PIGN	23556	broad.mit.edu	37	18	59777194	59777194	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:59777194G>T	ENST00000357637.5	-	17	1862	c.1447C>A	c.(1447-1449)Ctc>Atc	p.L483I	PIGN_ENST00000400334.3_Missense_Mutation_p.L483I	NM_176787.4	NP_789744.1	O95427	PIGN_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class N	483					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	phosphotransferase activity, for other substituted phosphate groups			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22		Colorectal(73;0.187)				CAAGGCAGGAGATGGCTTGGT	0.338													5	56					5.9392e-07	6.87481e-07	1	1	0	T	59777194	G	T	59777194	3	4	81	1	0	0	0	0	1	0	0	0	11941	942	33	4	1408	4	PIGN	18	59777194	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	606906	59777194	18300054	13013	16629											
KIAA1468	57614	broad.mit.edu	37	18	59947632	59947632	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:59947632C>T	ENST00000398130.2	+	23	3239	c.3007C>T	c.(3007-3009)Cgg>Tgg	p.R1003W	KIAA1468_ENST00000256858.6_Intron	NM_020854.3	NP_065905.2	Q9P260	K1468_HUMAN	KIAA1468	1003							binding			autonomic_ganglia(1)|breast(4)|endometrium(4)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47		Colorectal(73;0.186)				AGTTGACAAGCGGGTTGCTCC	0.438													24	62					0	0	1	0	0	T	59947632	C	T	59947632	3	4	81	1	0	0	0	0	1	0	0	0	8278	759	27	1	3097	1	KIAA1468	18	59947632	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	170438	59947632	18129616	13014	16630											
TNFRSF11A	8792	broad.mit.edu	37	18	60029004	60029004	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:60029004G>T	ENST00000586569.1	+	7	746	c.708G>T	c.(706-708)agG>agT	p.R236S	TNFRSF11A_ENST00000269485.7_Intron	NM_001270949.1|NM_003839.3	NP_001257878.1|NP_003830.1	Q9Y6Q6	TNR11_HUMAN	tumor necrosis factor receptor superfamily, member 11a, NFKB activator	236					adaptive immune response|cell-cell signaling|circadian temperature homeostasis|monocyte chemotaxis|osteoclast differentiation|positive regulation of cell proliferation|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling|positive regulation of fever generation by positive regulation of prostaglandin secretion|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|response to interleukin-1|response to lipopolysaccharide	external side of plasma membrane|integral to membrane	metal ion binding|tumor necrosis factor receptor activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(13)|skin(3)|upper_aerodigestive_tract(1)	29		Colorectal(73;0.188)				TTTGCTATAGGAAAAAAGGGA	0.423													84	101					7.83748e-43	1.05313e-42	1	1	0	T	60029004	G	T	60029004	3	4	81	1	0	0	0	0	1	0	0	0	16344	1165	41	5	734	5	TNFRSF11A	18	60029004	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	81372	60029004	18048244	13015	16631											
TNFRSF11A	8792	broad.mit.edu	37	18	60036460	60036460	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:60036460G>T	ENST00000586569.1	+	9	1348	c.1310G>T	c.(1309-1311)aGc>aTc	p.S437I	TNFRSF11A_ENST00000269485.7_Intron	NM_001270949.1|NM_003839.3	NP_001257878.1|NP_003830.1	Q9Y6Q6	TNR11_HUMAN	tumor necrosis factor receptor superfamily, member 11a, NFKB activator	437					adaptive immune response|cell-cell signaling|circadian temperature homeostasis|monocyte chemotaxis|osteoclast differentiation|positive regulation of cell proliferation|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling|positive regulation of fever generation by positive regulation of prostaglandin secretion|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|response to interleukin-1|response to lipopolysaccharide	external side of plasma membrane|integral to membrane	metal ion binding|tumor necrosis factor receptor activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(13)|skin(3)|upper_aerodigestive_tract(1)	29		Colorectal(73;0.188)				TGGGCAGCCAGCCCCAGCCCC	0.612													5	38					0.00116845	0.00124301	1	1	0	T	60036460	G	T	60036460	3	4	81	1	0	0	0	0	1	0	0	0	16344	971	34	4	1344	4	TNFRSF11A	18	60036460	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	7456	60036460	18040788	13016	16632											
ZCCHC2	54877	broad.mit.edu	37	18	60242354	60242354	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:60242354T>C	ENST00000269499.5	+	13	3458	c.3040T>C	c.(3040-3042)Tct>Cct	p.S1014P	ZCCHC2_ENST00000586834.1_Missense_Mutation_p.S693P	NM_017742.4	NP_060212.4	Q9C0B9	ZCHC2_HUMAN	zinc finger, CCHC domain containing 2	1014					cell communication	cytoplasm	nucleic acid binding|phosphatidylinositol binding|zinc ion binding			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25						TCCTTGTGGTTCTTGTGGGCG	0.527													10	13					0	0	1	0	0	C	60242354	T	C	60242354	3	2	81	1	0	0	0	0	1	0	0	0	17645	1783	62	3	3090	3	ZCCHC2	18	60242354	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	205894	60242354	17834894	13017	16633											
PHLPP1	23239	broad.mit.edu	37	18	60527781	60527781	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:60527781C>A	ENST00000400316.4	+	4	2258	c.477C>A	c.(475-477)ttC>ttA	p.F159L	PHLPP1_ENST00000262719.5_Missense_Mutation_p.F671L	NM_194449.3	NP_919431.2	O60346	PHLP1_HUMAN	PH domain and leucine rich repeat protein phosphatase 1	671					apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	cytosol|membrane|nucleus	metal ion binding|protein serine/threonine phosphatase activity			endometrium(2)|kidney(2)|lung(13)	17						AACAAAACTTCCTAAGGCAGA	0.502													4	21					0.00024832	0.000269806	1	1	0	A	60527781	C	A	60527781	3	1	81	1	0	0	0	0	1	0	0	0	11902	854	30	5	2027	5	PHLPP1	18	60527781	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	285427	60527781	17549467	13018	16634											
PHLPP1	23239	broad.mit.edu	37	18	60645923	60645923	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:60645923C>T	ENST00000400316.4	+	17	4658	c.2877C>T	c.(2875-2877)agC>agT	p.S959S	PHLPP1_ENST00000262719.5_Silent_p.S1471S	NM_194449.3	NP_919431.2	O60346	PHLP1_HUMAN	PH domain and leucine rich repeat protein phosphatase 1	1471					apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	cytosol|membrane|nucleus	metal ion binding|protein serine/threonine phosphatase activity			endometrium(2)|kidney(2)|lung(13)	17						CCTCCAGCAGCGGCATGGCTT	0.632													9	17					0	0	1	0	0	T	60645923	C	T	60645923	2	4	81	1	0	0	0	0	0	0	0	1	11902	767	27	1		1	PHLPP1	18	60645923	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	118142	60645923	17431325	13019	16635											
BCL2	596	broad.mit.edu	37	18	60985307	60985307	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:60985307G>T	ENST00000444484.1	-	2	1085	c.593C>A	c.(592-594)gCa>gAa	p.A198E	BCL2_ENST00000333681.4_Intron|BCL2_ENST00000589955.1_Missense_Mutation_p.A198E|BCL2_ENST00000398117.1_Intron	NM_000657.2	NP_000648.2	P10415	BCL2_HUMAN	B-cell CLL/lymphoma 2	0					activation of pro-apoptotic gene products|anti-apoptosis|apoptosis in response to endoplasmic reticulum stress|B cell proliferation|B cell receptor signaling pathway|defense response to virus|female pregnancy|humoral immune response|induction of apoptosis by intracellular signals|negative regulation of cellular pH reduction|negative regulation of mitochondrial depolarization|negative regulation of neuron apoptosis|neuron apoptosis|positive regulation of B cell proliferation|positive regulation of cell growth|protein polyubiquitination|regulation of mitochondrial membrane permeability|regulation of mitochondrial membrane potential|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|regulation of transmembrane transporter activity|release of cytochrome c from mitochondria|response to cytokine stimulus|response to DNA damage stimulus|response to drug|response to iron ion|response to nicotine|response to toxin	endoplasmic reticulum membrane|mitochondrial outer membrane|nuclear membrane|pore complex	BH3 domain binding|channel activity|protease binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(106)|kidney(1)|large_intestine(1)|lung(3)	113		all_hematologic(56;1.18e-20)|Prostate(75;0.0872)		Lung(128;0.0234)|READ - Rectum adenocarcinoma(59;0.0935)	Docetaxel(DB01248)|Fludarabine(DB01073)|Melatonin(DB01065)|Paclitaxel(DB01229)|Rasagiline(DB01367)	ATCACCAAGTGCACCTACCCA	0.632			T	IGH@	"NHL, CLL"								6	12					0.00198382	0.00209725	1	1	0	T	60985307	G	T	60985307	3	4	81	1	0	0	0	0	1	0	0	0	1363	1319	46	5	167	5	BCL2	18	60985307	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	339384	60985307	17091941	13020	16636											
SERPINB12	89777	broad.mit.edu	37	18	61225673	61225673	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:61225673G>T	ENST00000382768.1	+	2	257	c.257G>T	c.(256-258)aGc>aTc	p.S86I	SERPINB12_ENST00000269491.1_Intron			Q96P63	SPB12_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 12	81					negative regulation of protein catabolic process|regulation of proteolysis	cytoplasm	enzyme binding|serine-type endopeptidase inhibitor activity			kidney(1)|large_intestine(5)|lung(19)|skin(1)	26						CTGGCTGACAGCTCTCTGGAG	0.443													23	33					1.9806e-07	2.31852e-07	1	1	0	T	61225673	G	T	61225673	3	4	81	1	0	0	0	0	1	0	0	0	14153	986	34	4		4	SERPINB12	18	61225673	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	240366	61225673	16851575	13021	16637											
SERPINB13	5275	broad.mit.edu	37	18	61264593	61264593	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:61264593C>A	ENST00000344731.5	+	8	1274	c.1172C>A	c.(1171-1173)cCt>cAt	p.P391H	SERPINB13_ENST00000269489.5_Missense_Mutation_p.P339H	NM_012397.3	NP_036529.1	Q9UIV8	SPB13_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 13	391					regulation of proteolysis|response to UV	cytoplasm|extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1)	25						TTTTCTTCTCCTTAAGATGAT	0.403													36	46					6.70999e-13	8.41593e-13	1	1	0	A	61264593	C	A	61264593	3	1	81	1	0	0	0	0	1	0	0	0	14154	681	24	4	1198	4	SERPINB13	18	61264593	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	38920	61264593	16812655	13022	16638											
SERPINB7	8710	broad.mit.edu	37	18	61459678	61459678	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:61459678G>A	ENST00000398019.2	+	3	544		c.e3+1		SERPINB7_ENST00000540675.1_Intron|SERPINB7_ENST00000546027.1_Splice_Site|SERPINB7_ENST00000336429.2_Splice_Site	NM_003784.3	NP_003775.1	O75635	SPB7_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 7						regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	27		Esophageal squamous(42;0.129)				TAATAGTCAGGTAAAGACAAT	0.443													23	35					0	0	1	0	0	A	61459678	G	A	61459678	5	1	81	1	0	0	0	0	0	0	1	0	14160	1275	44	2	226	2	SERPINB7	18	61459678	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	195085	61459678	16617570	13023	16639											
SERPINB10	5273	broad.mit.edu	37	18	61597398	61597398	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:61597398G>T	ENST00000238508.3	+	6	669	c.610G>T	c.(610-612)Gaa>Taa	p.E204*		NM_005024.1	NP_005015.1			serpin peptidase inhibitor, clade B (ovalbumin), member 10											breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(3)|stomach(2)	24		Esophageal squamous(42;0.131)				AAACACCACAGAAAAGCCTTT	0.373													12	102					5.50884e-06	6.24461e-06	1	1	0	T	61597398	G	T	61597398	4	4	81	1	0	0	0	0	0	1	0	0	14151	943	33	4	628	4	SERPINB10	18	61597398	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	137720	61597398	16479850	13024	16640											
CDH19	28513	broad.mit.edu	37	18	64211990	64211990	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:64211990T>C	ENST00000262150.2	-	6	1218	c.926A>G	c.(925-927)cAt>cGt	p.H309R	CDH19_ENST00000540086.1_Missense_Mutation_p.H309R	NM_021153.3	NP_066976.1	Q9H159	CAD19_HUMAN	cadherin 19, type 2	309	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61		Esophageal squamous(42;0.0132)				TTGAGTTTCATGATTAGTAAT	0.303													9	16					0	0	1	0	0	C	64211990	T	C	64211990	3	2	81	1	0	0	0	0	1	0	0	0	3126	1464	51	3	1420	3	CDH19	18	64211990	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	2614592	64211990	13865258	13025	16641											
DSEL	92126	broad.mit.edu	37	18	65181680	65181680	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:65181680G>T	ENST00000310045.7	-	2	1669	c.196C>A	c.(196-198)Ctg>Atg	p.L66M		NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	56						integral to membrane	isomerase activity|sulfotransferase activity			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				CTTTTCTTCAGCTTTTGGTTG	0.378													38	64					1.30015e-28	1.72984e-28	1	1	0	T	65181680	G	T	65181680	3	4	81	1	0	0	0	0	1	0	0	0	4801	962	34	4	3476	4	DSEL	18	65181680	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	969690	65181680	12895568	13026	16642											
TMX3	54495	broad.mit.edu	37	18	66381119	66381119	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:66381119A>G	ENST00000299608.2	-	2	381	c.65T>C	c.(64-66)gTc>gCc	p.V22A	TMX3_ENST00000562706.1_Missense_Mutation_p.V22A|TMX3_ENST00000443099.2_Missense_Mutation_p.V22A	NM_019022.3	NP_061895.3	Q96JJ7	TMX3_HUMAN	thioredoxin-related transmembrane protein 3	22					cell redox homeostasis|glycerol ether metabolic process	endoplasmic reticulum membrane|integral to membrane	electron carrier activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	17						TTTACAGACGACCATATCAAG	0.284													7	9					0	0	1	0	0	G	66381119	A	G	66381119	3	3	81	1	0	0	0	0	1	0	0	0	16328	275	10	3	1359	3	TMX3	18	66381119	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	1199439	66381119	11696129	13027	16643											
CCDC102B	79839	broad.mit.edu	37	18	66564467	66564467	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:66564467G>A	ENST00000360242.5	+	6	1182	c.1065G>A	c.(1063-1065)ttG>ttA	p.L355L	CCDC102B_ENST00000584156.1_Silent_p.L355L|CCDC102B_ENST00000319445.6_Silent_p.L355L|CCDC102B_ENST00000358653.5_Silent_p.L355L|CCDC102B_ENST00000577772.1_3'UTR	NM_024781.2	NP_079057	Q68D86	C102B_HUMAN	coiled-coil domain containing 102B	355										breast(2)|endometrium(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|stomach(1)	36		Esophageal squamous(42;0.0559)|Colorectal(73;0.0604)				TAGAGAGATTGCAAGCTGAAA	0.433													27	44					0	0	1	0	0	A	66564467	G	A	66564467	2	1	81	1	0	0	0	0	0	0	0	1	2755	1310	46	2		2	CCDC102B	18	66564467	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	183348	66564467	11512781	13028	16644											
CCDC102B	79839	broad.mit.edu	37	18	66721309	66721309	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:66721309C>A	ENST00000360242.5	+	8	1594	c.1477C>A	c.(1477-1479)Ctg>Atg	p.L493M	CCDC102B_ENST00000319445.6_Missense_Mutation_p.L493M	NM_024781.2	NP_079057	Q68D86	C102B_HUMAN	coiled-coil domain containing 102B	493										breast(2)|endometrium(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|stomach(1)	36		Esophageal squamous(42;0.0559)|Colorectal(73;0.0604)				CCAGAGGTCTCTGGATGAAGA	0.373													35	42					4.0492e-12	5.05035e-12	1	1	0	A	66721309	C	A	66721309	3	1	81	1	0	0	0	0	1	0	0	0	2755	912	32	4	1503	4	CCDC102B	18	66721309	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	156842	66721309	11355939	13029	16645											
CD226	10666	broad.mit.edu	37	18	67563180	67563180	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:67563180C>T	ENST00000280200.4	-	4	752	c.484G>A	c.(484-486)Gca>Aca	p.A162T	CD226_ENST00000581982.1_Missense_Mutation_p.A7T|CD226_ENST00000577287.1_Missense_Mutation_p.A7T|CD226_ENST00000582621.1_Missense_Mutation_p.A162T	NM_006566.2	NP_006557.2	Q15762	CD226_HUMAN	CD226 molecule	162	Ig-like C2-type 2.				cell adhesion|cell recognition|positive regulation of Fc receptor mediated stimulatory signaling pathway|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target	cell surface|integral to plasma membrane|membrane raft	cell adhesion molecule binding|integrin binding|protein kinase binding|receptor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1)	24		Esophageal squamous(42;0.129)				CACCTCACTGCCTGCACAGGC	0.488													20	27					0	0	1	0	0	T	67563180	C	T	67563180	3	4	81	1	0	0	0	0	1	0	0	0	3008	739	26	2	542	2	CD226	18	67563180	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	841871	67563180	10514068	13030	16646											
RTTN	25914	broad.mit.edu	37	18	67725039	67725039	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:67725039C>T	ENST00000255674.6	-	37	5256	c.4970G>A	c.(4969-4971)tGt>tAt	p.C1657Y	RTTN_ENST00000454359.1_3'UTR	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	1657							binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				TTCCTGGACACATGTCTGTAT	0.413													7	25					0	0	1	0	0	T	67725039	C	T	67725039	3	4	81	1	0	0	0	0	1	0	0	0	13789	478	17	2	1762	2	RTTN	18	67725039	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	161859	67725039	10352209	13031	16647											
RTTN	25914	broad.mit.edu	37	18	67742591	67742591	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:67742591T>G	ENST00000255674.6	-	33	4847	c.4561A>C	c.(4561-4563)Aat>Cat	p.N1521H	RTTN_ENST00000454359.1_3'UTR|RTTN_ENST00000437017.1_Missense_Mutation_p.N1521H	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	1521							binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				TACTTACCATTTAAATCATTG	0.239													18	32					0	0	1	0	0	G	67742591	T	G	67742591	3	3	81	1	0	0	0	0	1	0	0	0	13789	1841	64	5	2187	5	RTTN	18	67742591	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	17552	67742591	10334657	13032	16648											
RTTN	25914	broad.mit.edu	37	18	67812937	67812937	+	Missense_Mutation	SNP	C	C	T	rs143585515	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:67812937C>T	ENST00000255674.6	-	18	2678	c.2392G>A	c.(2392-2394)Gcc>Acc	p.A798T	RTTN_ENST00000454359.1_Missense_Mutation_p.A798T|RTTN_ENST00000437017.1_Missense_Mutation_p.A798T	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	798							binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				AGAACTCTGGCGTCTATTAGA	0.418													32	52					0	0	1	0	0	T	67812937	C	T	67812937	3	4	81	1	0	0	0	0	1	0	0	0	13789	768	27	1	4416	1	RTTN	18	67812937	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	70346	67812937	10264311	13033	16649											
SOCS6	9306	broad.mit.edu	37	18	67992683	67992683	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:67992683G>A	ENST00000397942.3	+	2	1095	c.779G>A	c.(778-780)cGc>cAc	p.R260H	SOCS6_ENST00000582322.1_Missense_Mutation_p.R260H	NM_004232.3	NP_004223.2	O14544	SOCS6_HUMAN	suppressor of cytokine signaling 6	260					defense response|JAK-STAT cascade|negative regulation of signal transduction|regulation of growth	cytoplasm				NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)	22		Esophageal squamous(42;0.129)|Colorectal(73;0.152)				GTGGGAGGGCGCGCTTTCCCC	0.547													29	40					0	0	1	0	0	A	67992683	G	A	67992683	3	1	81	1	0	0	0	0	1	0	0	0	14972	1087	38	1	781	1	SOCS6	18	67992683	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	179746	67992683	10084565	13034	16650											
SOCS6	9306	broad.mit.edu	37	18	67992736	67992736	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:67992736G>T	ENST00000397942.3	+	2	1148	c.832G>T	c.(832-834)Gag>Tag	p.E278*	SOCS6_ENST00000582322.1_Nonsense_Mutation_p.E278*	NM_004232.3	NP_004223.2	O14544	SOCS6_HUMAN	suppressor of cytokine signaling 6	278					defense response|JAK-STAT cascade|negative regulation of signal transduction|regulation of growth	cytoplasm				NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)	22		Esophageal squamous(42;0.129)|Colorectal(73;0.152)				TGTCGCCCCAGAGATCTTCGT	0.582													7	93					0.0293803	0.0300537	1	1	0	T	67992736	G	T	67992736	4	4	81	1	0	0	0	0	0	1	0	0	14972	943	33	4	834	4	SOCS6	18	67992736	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	53	67992736	10084512	13035	16651											
NETO1	81832	broad.mit.edu	37	18	70417389	70417389	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:70417389C>T	ENST00000327305.6	-	9	2106	c.1449G>A	c.(1447-1449)tcG>tcA	p.S483S	NETO1_ENST00000583169.1_Silent_p.S483S|NETO1_ENST00000299430.2_Silent_p.S482S	NM_138966.3	NP_620416	Q8TDF5	NETO1_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 1	483					memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity			NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		CAGCATCTTGCGAGTAGCTGT	0.502													20	25					0	0	1	0	0	T	70417389	C	T	70417389	2	4	81	1	0	0	0	0	0	0	0	1	10386	755	27	1		1	NETO1	18	70417389	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2424653	70417389	7659859	13036	16652											
NETO1	81832	broad.mit.edu	37	18	70451004	70451004	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:70451004C>T	ENST00000327305.6	-	7	1434	c.777G>A	c.(775-777)atG>atA	p.M259I	NETO1_ENST00000583169.1_Missense_Mutation_p.M259I|NETO1_ENST00000299430.2_Missense_Mutation_p.M258I	NM_138966.3	NP_620416	Q8TDF5	NETO1_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 1	259	CUB 2.				memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity			NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		CCGTGCGTAGCATGACATCAT	0.478													53	82					0	0	1	0	0	T	70451004	C	T	70451004	3	4	81	1	0	0	0	0	1	0	0	0	10386	710	25	2	840	2	NETO1	18	70451004	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	33615	70451004	7626244	13037	16653											
CNDP2	55748	broad.mit.edu	37	18	72173218	72173218	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:72173218C>T	ENST00000324262.4	+	4	655	c.339C>T	c.(337-339)agC>agT	p.S113S	CNDP2_ENST00000324301.8_Intron|CNDP2_ENST00000579847.1_Silent_p.S113S	NM_018235.2	NP_060705.2	Q96KP4	CNDP2_HUMAN	CNDP dipeptidase 2 (metallopeptidase M20 family)	113						cytoplasm	carboxypeptidase activity|metal ion binding|metallopeptidase activity|protein binding|tripeptidase activity			breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(5)|ovary(2)|skin(2)|stomach(3)	24		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.22)		GCTGGGACAGCGAGCCCTTCA	0.617													15	35					0	0	1	0	0	T	72173218	C	T	72173218	2	4	81	1	0	0	0	0	0	0	0	1	3617	767	27	1		1	CNDP2	18	72173218	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1722214	72173218	5904030	13038	16654											
CNDP2	55748	broad.mit.edu	37	18	72178114	72178114	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:72178114G>A	ENST00000324262.4	+	6	839	c.523G>A	c.(523-525)Gag>Aag	p.E175K	CNDP2_ENST00000324301.8_Missense_Mutation_p.E91K|CNDP2_ENST00000579847.1_Missense_Mutation_p.E175K	NM_018235.2	NP_060705.2	Q96KP4	CNDP2_HUMAN	CNDP dipeptidase 2 (metallopeptidase M20 family)	175						cytoplasm	carboxypeptidase activity|metal ion binding|metallopeptidase activity|protein binding|tripeptidase activity			breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(5)|ovary(2)|skin(2)|stomach(3)	24		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.22)		GGGCCTAGACGAGCTGATTTT	0.498													35	40					0	0	1	0	0	A	72178114	G	A	72178114	3	1	81	1	0	0	0	0	1	0	0	0	3617	1059	37	1	541	1	CNDP2	18	72178114	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	4896	72178114	5899134	13039	16655											
CNDP2	55748	broad.mit.edu	37	18	72180853	72180853	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:72180853G>A	ENST00000324262.4	+	8	1118	c.802G>A	c.(802-804)Gcc>Acc	p.A268T	CNDP2_ENST00000324301.8_Missense_Mutation_p.A184T|CNDP2_ENST00000579847.1_Missense_Mutation_p.A268T	NM_018235.2	NP_060705.2	Q96KP4	CNDP2_HUMAN	CNDP dipeptidase 2 (metallopeptidase M20 family)	268						cytoplasm	carboxypeptidase activity|metal ion binding|metallopeptidase activity|protein binding|tripeptidase activity			breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(5)|ovary(2)|skin(2)|stomach(3)	24		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.22)		GGCCGTGGCCGCCGTCACGGA	0.597													20	23					0	0	1	0	0	A	72180853	G	A	72180853	3	1	81	1	0	0	0	0	1	0	0	0	3617	1087	38	1	828	1	CNDP2	18	72180853	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2739	72180853	5896395	13040	16656											
CNDP1	84735	broad.mit.edu	37	18	72244143	72244143	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:72244143G>A	ENST00000582365.1	+	7	818	c.752G>A	c.(751-753)gGa>gAa	p.G251E	CNDP1_ENST00000358821.3_Missense_Mutation_p.G294E			Q96KN2	CNDP1_HUMAN	carnosine dipeptidase 1 (metallopeptidase M20 family)	294					proteolysis	extracellular region	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity|tripeptidase activity	p.G294E(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27		Esophageal squamous(42;0.129)|Prostate(75;0.157)|Melanoma(33;0.211)		BRCA - Breast invasive adenocarcinoma(31;0.109)		CTGGTCCCTGGAATCTATGAT	0.453													37	48					0	0	1	0	0	A	72244143	G	A	72244143	3	1	81	1	0	0	0	0	1	0	0	0	3616	1174	41	2	911	2	CNDP1	18	72244143	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	63290	72244143	5833105	13041	16657											
CNDP1	84735	broad.mit.edu	37	18	72247449	72247449	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:72247449G>A	ENST00000582365.1	+	9	1188	c.1122G>A	c.(1120-1122)ccG>ccA	p.P374P	CNDP1_ENST00000358821.3_Silent_p.P417P			Q96KN2	CNDP1_HUMAN	carnosine dipeptidase 1 (metallopeptidase M20 family)	417					proteolysis	extracellular region	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity|tripeptidase activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27		Esophageal squamous(42;0.129)|Prostate(75;0.157)|Melanoma(33;0.211)		BRCA - Breast invasive adenocarcinoma(31;0.109)		GACTACACCCGTGGATTGCAA	0.438													11	24					0	0	1	0	0	A	72247449	G	A	72247449	2	1	81	1	0	0	0	0	0	0	0	1	3616	1132	40	1		1	CNDP1	18	72247449	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	3306	72247449	5829799	13042	16658											
ZADH2	284273	broad.mit.edu	37	18	72913976	72913976	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:72913976A>G	ENST00000322342.3	-	2	818	c.529T>C	c.(529-531)Ttg>Ctg	p.L177L	ZADH2_ENST00000537114.2_Silent_p.L54L	NM_175907.4	NP_787103.1	Q8N4Q0	ZADH2_HUMAN	zinc binding alcohol dehydrogenase domain containing 2	177						peroxisome	oxidoreductase activity|zinc ion binding			endometrium(3)|large_intestine(3)|lung(8)|skin(1)	15		Esophageal squamous(42;0.131)|Prostate(75;0.155)		READ - Rectum adenocarcinoma(2;0.0276)|BRCA - Breast invasive adenocarcinoma(31;0.216)		GCTGTCACCAAAACTTTTTTC	0.517													168	245					0	0	1	0	0	G	72913976	A	G	72913976	2	3	81	1	0	0	0	0	0	0	0	1	17571	11	1	3		3	ZADH2	18	72913976	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	666527	72913976	5163272	13043	16659											
TSHZ1	10194	broad.mit.edu	37	18	72999467	72999467	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:72999467C>T	ENST00000322038.5	+	2	2554	c.1970C>T	c.(1969-1971)gCc>gTc	p.A657V	TSHZ1_ENST00000580243.1_Missense_Mutation_p.A702V	NM_005786.5	NP_005777.3	Q6ZSZ6	TSH1_HUMAN	teashirt zinc finger homeobox 1	702						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		ACTGGGAAGGCCAAAAAGGAG	0.547													8	29					0	0	1	0	0	T	72999467	C	T	72999467	3	4	81	1	0	0	0	0	1	0	0	0	16684	739	26	2	1972	2	TSHZ1	18	72999467	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	85491	72999467	5077781	13044	16660											
ZNF516	9658	broad.mit.edu	37	18	74091873	74091873	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:74091873G>A	ENST00000443185.2	-	4	2514	c.2197C>T	c.(2197-2199)Cta>Tta	p.L733L	ZNF516_ENST00000524431.2_5'UTR	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN	zinc finger protein 516	733					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		CTTAAATCTAGCGGCATGAGG	0.612													5	31					0	0	1	0	0	A	74091873	G	A	74091873	2	1	81	1	0	0	0	0	0	0	0	1	18017	962	34	2		2	ZNF516	18	74091873	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1092406	74091873	3985375	13045	16661											
ZNF236	7776	broad.mit.edu	37	18	74607198	74607198	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:74607198C>A	ENST00000253159.8	+	10	1839	c.1641C>A	c.(1639-1641)ttC>ttA	p.F547L	ZNF236_ENST00000320610.9_Missense_Mutation_p.F549L	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	547					cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		TGAAGAGCTTCTCCACCTCTG	0.617													15	22					6.31663e-08	7.44777e-08	1	1	0	A	74607198	C	A	74607198	3	1	81	1	0	0	0	0	1	0	0	0	17847	912	32	4	1679	4	ZNF236	18	74607198	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	515325	74607198	3470050	13046	16662											
ZNF236	7776	broad.mit.edu	37	18	74631731	74631731	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:74631731G>T	ENST00000253159.8	+	20	3466		c.e20-1		ZNF236_ENST00000320610.9_Splice_Site	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236						cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		ATTTTGTGTAGACATTTGTAT	0.373													21	83					1.2644e-06	1.45856e-06	1	1	0	T	74631731	G	T	74631731	5	4	81	1	0	0	0	0	0	0	1	0	17847	956	33	4	3346	4	ZNF236	18	74631731	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	24533	74631731	3445517	13047	16663											
ZNF236	7776	broad.mit.edu	37	18	74637348	74637348	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:74637348C>T	ENST00000253159.8	+	22	4057	c.3859C>T	c.(3859-3861)Cga>Tga	p.R1287*	ZNF236_ENST00000320610.9_Nonsense_Mutation_p.R1289*	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	1287					cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		GCCTATGACTCGAAGCTCATC	0.483													31	30					0	0	1	0	0	T	74637348	C	T	74637348	4	4	81	1	0	0	0	0	0	1	0	0	17847	876	31	1	3945	1	ZNF236	18	74637348	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	5617	74637348	3439900	13048	16664											
MBP	4155	broad.mit.edu	37	18	74696744	74696744	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:74696744T>C	ENST00000355994.2	-	8	1120	c.857A>G	c.(856-858)aAa>aGa	p.K286R	MBP_ENST00000397865.5_Missense_Mutation_p.K142R|MBP_ENST00000397875.3_Missense_Mutation_p.K163R|MBP_ENST00000354542.4_Intron|MBP_ENST00000528160.1_Missense_Mutation_p.K37E|MBP_ENST00000526111.1_Missense_Mutation_p.K131R|MBP_ENST00000397869.3_Missense_Mutation_p.K218R|MBP_ENST00000397866.4_Missense_Mutation_p.K153R|MBP_ENST00000382582.3_Missense_Mutation_p.K179R|MBP_ENST00000579129.1_Intron|MBP_ENST00000580402.1_Missense_Mutation_p.K286R|MBP_ENST00000578193.1_Missense_Mutation_p.K153R|MBP_ENST00000359645.3_Missense_Mutation_p.K168R|MBP_ENST00000527041.1_Intron	NM_001025101.1	NP_001020272.1	P02686	MBP_HUMAN	myelin basic protein	286					central nervous system development|immune response|synaptic transmission	plasma membrane	structural constituent of myelin sheath			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	19		Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211)		OV - Ovarian serous cystadenocarcinoma(15;1.79e-06)|BRCA - Breast invasive adenocarcinoma(31;0.113)|READ - Rectum adenocarcinoma(1;0.188)		CTTAAAAATTTTGGAAAGCGT	0.557													4	49					0	0	1	0	0	C	74696744	T	C	74696744	3	2	81	1	0	0	0	0	1	0	0	0	9409	1841	64	3	65	3	MBP	18	74696744	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	59396	74696744	3380504	13049	16665											
SALL3	27164	broad.mit.edu	37	18	76754541	76754541	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:76754541C>T	ENST00000536229.3	+	1	2860	c.2151C>T	c.(2149-2151)atC>atT	p.I717I	SALL3_ENST00000575389.2_Silent_p.I850I|SALL3_ENST00000537592.2_Silent_p.I850I			Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	850					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		TGAAGATGATCGACTCGGTCA	0.667													22	28					0	0	1	0	0	T	76754541	C	T	76754541	2	4	81	1	0	0	0	0	0	0	0	1	13864	874	31	1		1	SALL3	18	76754541	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2057797	76754541	1322707	13050	16666											
SALL3	27164	broad.mit.edu	37	18	76754804	76754804	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:76754804C>T	ENST00000536229.3	+	1	3123	c.2414C>T	c.(2413-2415)cCg>cTg	p.P805L	SALL3_ENST00000575389.2_Missense_Mutation_p.P938L|SALL3_ENST00000537592.2_Missense_Mutation_p.P938L			Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	972					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		ACCGAGAGGCCGGACAGCCCA	0.741													3	4					0	0	1	0	0	T	76754804	C	T	76754804	3	4	81	1	0	0	0	0	1	0	0	0	13864	652	23	1	2819	1	SALL3	18	76754804	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	263	76754804	1322444	13051	16667											
ATP9B	374868	broad.mit.edu	37	18	77105535	77105535	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:77105535G>A	ENST00000426216.2	+	22	2597	c.2580G>A	c.(2578-2580)ctG>ctA	p.L860L	ATP9B_ENST00000307671.7_Silent_p.L860L|ATP9B_ENST00000543761.1_Silent_p.L181L	NM_198531.3	NP_940933.3	O43861	ATP9B_HUMAN	ATPase, class II, type 9B	860					ATP biosynthetic process	integral to membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(3)|prostate(1)|skin(2)|stomach(1)	38		Esophageal squamous(42;0.018)|Melanoma(33;0.0964)|Prostate(75;0.171)		OV - Ovarian serous cystadenocarcinoma(15;1.44e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0405)		TTGTGACACTGCTGCAGCAGC	0.607													25	32					0	0	1	0	0	A	77105535	G	A	77105535	2	1	81	1	0	0	0	0	0	0	0	1	1197	1306	46	2		2	ATP9B	18	77105535	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	350731	77105535	971713	13052	16668											
NFATC1	4772	broad.mit.edu	37	18	77211710	77211710	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:77211710G>T	ENST00000253506.5	+	6	2166	c.1797G>T	c.(1795-1797)gaG>gaT	p.E599D	NFATC1_ENST00000586434.1_Missense_Mutation_p.E586D|NFATC1_ENST00000329101.4_Missense_Mutation_p.E586D|NFATC1_ENST00000427363.2_Missense_Mutation_p.E599D|NFATC1_ENST00000397790.2_Missense_Mutation_p.E127D|NFATC1_ENST00000318065.5_Missense_Mutation_p.E586D|NFATC1_ENST00000592223.1_Missense_Mutation_p.E586D|NFATC1_ENST00000542384.1_Missense_Mutation_p.E599D|NFATC1_ENST00000591814.1_Missense_Mutation_p.E599D|NFATC1_ENST00000545796.1_Missense_Mutation_p.E127D|NFATC1_ENST00000587635.1_Missense_Mutation_p.R571I	NM_006162.3	NP_006153.2	O95644	NFAC1_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1	599					intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1)	40		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)		CTCTGGTGGAGAAGCAGAGCA	0.622													4	38					0.00909568	0.00944708	1	1	0	T	77211710	G	T	77211710	3	4	81	1	0	0	0	0	1	0	0	0	10408	933	33	4	1911	4	NFATC1	18	77211710	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	106175	77211710	865538	13053	16669											
ADNP2	22850	broad.mit.edu	37	18	77894587	77894587	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:77894587C>T	ENST00000262198.4	+	4	1746	c.1291C>T	c.(1291-1293)Cag>Tag	p.Q431*		NM_014913.3	NP_055728.1	Q6IQ32	ADNP2_HUMAN	ADNP homeobox 2	431					cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2)	42		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)		TGGGGTCCTGCAGGCTGTCTC	0.632													16	39					0	0	1	0	0	T	77894587	C	T	77894587	4	4	81	1	0	0	0	0	0	1	0	0	323	711	25	2	1301	2	ADNP2	18	77894587	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	682877	77894587	182661	13054	16670											
ADNP2	22850	broad.mit.edu	37	18	77895757	77895757	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:77895757C>T	ENST00000262198.4	+	4	2916	c.2461C>T	c.(2461-2463)Ccc>Tcc	p.P821S		NM_014913.3	NP_055728.1	Q6IQ32	ADNP2_HUMAN	ADNP homeobox 2	821					cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2)	42		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)		CCTGCTCTTTCCCCACCTTGA	0.498													41	36					0	0	1	0	0	T	77895757	C	T	77895757	3	4	81	1	0	0	0	0	1	0	0	0	323	855	30	2	2471	2	ADNP2	18	77895757	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1170	77895757	181491	13055	16671											
PARD6G	84552	broad.mit.edu	37	18	77918260	77918260	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:77918260G>A	ENST00000353265.3	-	3	722	c.525C>T	c.(523-525)cgC>cgT	p.R175R	AC139100.2_ENST00000587254.1_Intron|AC139100.2_ENST00000586421.1_Intron|AC139100.2_ENST00000585422.1_Intron|AC139100.2_ENST00000589574.1_Intron	NM_032510.3	NP_115899.1	Q9BYG4	PAR6G_HUMAN	par-6 family cell polarity regulator gamma	175	Interaction with PARD3 and CDC42 (By similarity).|PDZ.				cell cycle|cell division|tight junction assembly	cytosol|tight junction	protein binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	8		all_cancers(4;5.63e-22)|all_epithelial(4;5.86e-15)|all_lung(4;1.32e-05)|Ovarian(4;1.33e-05)|Lung NSC(4;2.77e-05)|Esophageal squamous(42;0.0157)|all_hematologic(56;0.13)|Melanoma(33;0.144)		Epithelial(2;1.48e-13)|all cancers(1;5.77e-13)|OV - Ovarian serous cystadenocarcinoma(15;2.74e-10)|BRCA - Breast invasive adenocarcinoma(31;0.00166)|STAD - Stomach adenocarcinoma(84;0.18)|Lung(128;0.23)		TGGCGCCATCGCGGATGTAGA	0.697													5	8					0	0	1	0	0	A	77918260	G	A	77918260	2	1	81	1	0	0	0	0	0	0	0	1	11494	1074	38	1		1	PARD6G	18	77918260	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	22503	77918260	158988	13056	16672											
PPAP2C	8612	broad.mit.edu	37	19	287504	287504	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:287504C>A	ENST00000269812.3	-	3	501	c.452G>T	c.(451-453)aGg>aTg	p.R151M	PPAP2C_ENST00000327790.3_Missense_Mutation_p.R172M|PPAP2C_ENST00000434325.2_Missense_Mutation_p.R95M	NM_003712.2|NM_177526.1	NP_003703.1|NP_803545.1	O43688	LPP2_HUMAN	phosphatidic acid phosphatase type 2C	151					sphingolipid metabolic process	integral to membrane|plasma membrane	phosphatidate phosphatase activity|phosphoprotein phosphatase activity|sphingosine-1-phosphate phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(1)|lung(1)|skin(1)	5		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)		AGGGTTTCCCCTGCACACCTT	0.597													7	94					0.00307968	0.00324365	1	1	0	A	287504	C	A	287504	3	1	81	1	0	0	0	0	1	0	0	0	12337	681	24	4	430	4	PPAP2C	19	287504	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08		287504	58841479	13057	16673											
MIER2	54531	broad.mit.edu	37	19	327978	327978	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:327978C>T	ENST00000264819.4	-	4	265	c.255G>A	c.(253-255)atG>atA	p.M85I	MIER2_ENST00000592722.1_5'UTR	NM_017550.1	NP_060020.1	Q8N344	MIER2_HUMAN	mesoderm induction early response 1, family member 2	85					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(10;1.05e-30)|all_epithelial(18;3.04e-19)|Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;2.49e-05)|all_lung(49;4.36e-05)|Breast(49;0.000304)		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)		CATCAAAGGGCATGTCGTTGC	0.617													4	14					0	0	1	0	0	T	327978	C	T	327978	3	4	81	1	0	0	0	0	1	0	0	0	9629	710	25	2	1426	2	MIER2	19	327978	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	40474	327978	58801005	13058	16674											
SHC2	25759	broad.mit.edu	37	19	422274	422274	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:422274C>A	ENST00000264554.6	-	11	1491	c.1492G>T	c.(1492-1494)Gag>Tag	p.E498*		NM_012435.2	NP_036567.2	P98077	SHC2_HUMAN	SHC (Src homology 2 domain containing) transforming protein 2	498	SH2.				insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol				endometrium(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	21		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)		AGCATCCTCTCTGCCGCCCGG	0.706													4	13					0.014758	0.0152304	1	1	0	A	422274	C	A	422274	4	1	81	1	0	0	0	0	0	1	0	0	14326	922	32	4	264	4	SHC2	19	422274	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	94296	422274	58706709	13059	16675											
ODF3L2	284451	broad.mit.edu	37	19	463999	463999	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:463999C>T	ENST00000315489.4	-	4	950	c.715G>A	c.(715-717)Ggc>Agc	p.G239S	ODF3L2_ENST00000382696.3_Missense_Mutation_p.G203S	NM_182577.2	NP_872383.1	Q3SX64	OD3L2_HUMAN	outer dense fiber of sperm tails 3-like 2	239	Pro-rich.									large_intestine(1)|lung(2)	3						GCGCCAGGGCCGGGGGTCTCC	0.701													6	7					0	0	1	0	0	T	463999	C	T	463999	3	4	81	1	0	0	0	0	1	0	0	0	10880	652	23	1	158	1	ODF3L2	19	463999	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	41725	463999	58664984	13060	16676											
HCN2	610	broad.mit.edu	37	19	605215	605215	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:605215G>A	ENST00000251287.2	+	3	1264	c.1211G>A	c.(1210-1212)gGc>gAc	p.G404D		NM_001194.3	NP_001185.3	Q9UL51	HCN2_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 2	404					cell-cell signaling|muscle contraction	voltage-gated potassium channel complex	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity			endometrium(5)|lung(4)	9		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)		TCCATCAATGGCATGGTGGTG	0.642													15	31					0	0	1	0	0	A	605215	G	A	605215	3	1	81	1	0	0	0	0	1	0	0	0	7038	1203	42	2	1221	2	HCN2	19	605215	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	141216	605215	58523768	13061	16677											
HCN2	610	broad.mit.edu	37	19	613983	613983	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:613983G>A	ENST00000251287.2	+	7	2010	c.1957G>A	c.(1957-1959)Gag>Aag	p.E653K		NM_001194.3	NP_001185.3	Q9UL51	HCN2_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 2	653					cell-cell signaling|muscle contraction	voltage-gated potassium channel complex	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity			endometrium(5)|lung(4)	9		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)		GCGCGCCTTCGAGACGGTGGC	0.711													12	15					0	0	1	0	0	A	613983	G	A	613983	3	1	81	1	0	0	0	0	1	0	0	0	7038	1059	37	1	1983	1	HCN2	19	613983	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	8768	613983	58515000	13062	16678											
RNF126	55658	broad.mit.edu	37	19	648907	648907	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:648907G>A	ENST00000292363.5	-	7	800	c.645C>T	c.(643-645)acC>acT	p.T215T		NM_194460.2	NP_919442.1	Q9BV68	RN126_HUMAN	ring finger protein 126	215							protein binding|zinc ion binding			lung(1)	1		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)		TGACGGGGACGGTGGGGAGGG	0.572													5	8					0	0	1	0	0	A	648907	G	A	648907	2	1	81	1	0	0	0	0	0	0	0	1	13487	1103	39	1		1	RNF126	19	648907	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	34924	648907	58480076	13063	16679											
RNF126	55658	broad.mit.edu	37	19	650259	650259	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:650259C>T	ENST00000292363.5	-	5	636	c.481G>A	c.(481-483)Gcc>Acc	p.A161T		NM_194460.2	NP_919442.1	Q9BV68	RN126_HUMAN	ring finger protein 126	161							protein binding|zinc ion binding			lung(1)	1		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)		GGGATGGTGGCGGGCGTGATG	0.692													4	4					0	0	1	0	0	T	650259	C	T	650259	3	4	81	1	0	0	0	0	1	0	0	0	13487	768	27	1	474	1	RNF126	19	650259	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1352	650259	58478724	13064	16680											
PALM	5064	broad.mit.edu	37	19	746643	746643	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:746643C>T	ENST00000264560.7	+	8	1055	c.861C>T	c.(859-861)atC>atT	p.I287I	PALM_ENST00000338448.5_Silent_p.I331I|PALM_ENST00000593172.1_3'UTR	NM_001040134.1	NP_001035224.1	O75781	PALM_HUMAN	paralemmin	331					cellular component movement|negative regulation of adenylate cyclase activity|negative regulation of dopamine receptor signaling pathway|positive regulation of filopodium assembly|regulation of cell shape	cytoplasmic membrane-bounded vesicle|filopodium membrane|integral to plasma membrane				endometrium(2)|large_intestine(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_epithelial(18;2.19e-21)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)|Lung(535;0.201)		TGGTGGTCATCGAAGACGCGG	0.627													8	10					0	0	1	0	0	T	746643	C	T	746643	2	4	81	1	0	0	0	0	0	0	0	1	11455	874	31	1		1	PALM	19	746643	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	96384	746643	58382340	13065	16681											
PTBP1	5725	broad.mit.edu	37	19	808591	808591	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:808591G>A	ENST00000356948.6	+	13	1715	c.1292G>A	c.(1291-1293)cGc>cAc	p.R431H	PTBP1_ENST00000350092.4_Missense_Mutation_p.R71H|PTBP1_ENST00000349038.4_Missense_Mutation_p.R405H|PTBP1_ENST00000394601.4_Missense_Mutation_p.R424H	NM_002819.4	NP_002810.1	P26599	PTBP1_HUMAN	polypyrimidine tract binding protein 1	405					negative regulation of muscle cell differentiation|nuclear mRNA splicing, via spliceosome|regulation of alternative nuclear mRNA splicing, via spliceosome	heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	mRNA binding|nucleotide binding|poly-pyrimidine tract binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(4)	19		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)		AAGCCCATCCGCATCACGCTC	0.692													6	3					0	0	1	0	0	A	808591	G	A	808591	3	1	81	1	0	0	0	0	1	0	0	0	12774	1087	38	1	1342	1	PTBP1	19	808591	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	61948	808591	58320392	13066	16682											
AZU1	566	broad.mit.edu	37	19	831742	831742	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:831742C>T	ENST00000233997.2	+	5	642	c.621C>T	c.(619-621)tgC>tgT	p.C207C		NM_001700.3	NP_001691.1	P20160	CAP7_HUMAN	azurocidin 1	207	Peptidase S1.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|cellular extravasation|defense response to Gram-negative bacterium|glial cell migration|induction of positive chemotaxis|inflammatory response|macrophage chemotaxis|microglial cell activation|monocyte activation|positive regulation of cell adhesion|positive regulation of fractalkine biosynthetic process|positive regulation of interleukin-1 beta biosynthetic process|positive regulation of MHC class II biosynthetic process|positive regulation of phagocytosis|positive regulation of tumor necrosis factor biosynthetic process|proteolysis|regulation of vascular permeability	azurophil granule|extracellular region	heparin binding|serine-type endopeptidase activity|toxin binding			NS(1)|endometrium(1)|kidney(1)|lung(4)|pancreas(1)|upper_aerodigestive_tract(2)	10		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)		CCCTCGTCTGCGAGGGCCTGG	0.706													9	5					0	0	1	0	0	T	831742	C	T	831742	2	4	81	1	0	0	0	0	0	0	0	1	1241	776	27	1		1	AZU1	19	831742	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	23151	831742	58297241	13067	16683											
CFD	1675	broad.mit.edu	37	19	860969	860969	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:860969G>T	ENST00000327726.6	+	3	558	c.321G>T	c.(319-321)caG>caT	p.Q107H	CFD_ENST00000592860.1_Missense_Mutation_p.Q114H	NM_001928.2	NP_001919.2	P00746	CFAD_HUMAN	complement factor D (adipsin)	107	Peptidase S1.				complement activation, alternative pathway|platelet activation|platelet degranulation|proteolysis	platelet alpha granule lumen	serine-type endopeptidase activity						Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)		CGGACAGCCAGCCCGACACCA	0.711													6	15					5.18039e-06	5.88187e-06	1	1	0	T	860969	G	T	860969	3	4	81	1	0	0	0	0	1	0	0	0	3303	962	34	4	331	4	CFD	19	860969	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	29227	860969	58268014	13068	16684											
MED16	10025	broad.mit.edu	37	19	885908	885908	+	Silent	SNP	G	G	A	rs116674441	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:885908G>A	ENST00000312090.6	-	5	891	c.741C>T	c.(739-741)agC>agT	p.S247S	MED16_ENST00000606828.1_Intron|MED16_ENST00000395808.3_Silent_p.S247S|MED16_ENST00000589119.1_Silent_p.S247S|MED16_ENST00000325464.1_Silent_p.S247S|MED16_ENST00000269814.4_Silent_p.S247S			Q9Y2X0	MED16_HUMAN	mediator complex subunit 16	247					androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	receptor activity|thyroid hormone receptor binding|thyroid hormone receptor coactivator activity|vitamin D receptor binding			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|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)		CGCTCACCACGCTCACGCACA	0.652													22	37					0	0	1	0	0	A	885908	G	A	885908	2	1	81	1	0	0	0	0	0	0	0	1	9484	1078	38	1		1	MED16	19	885908	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	24939	885908	58243075	13069	16685											
CNN2	1265	broad.mit.edu	37	19	1037633	1037633	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:1037633A>G	ENST00000263097.4	+	7	1027	c.664A>G	c.(664-666)Acg>Gcg	p.T222A	CNN2_ENST00000562958.2_Missense_Mutation_p.T243A|CNN2_ENST00000606983.1_3'UTR|CNN2_ENST00000348419.3_Missense_Mutation_p.T183A|CNN2_ENST00000565096.2_Missense_Mutation_p.T211A	NM_004368.2	NP_004359.1	Q99439	CNN2_HUMAN	calponin 2	222					actomyosin structure organization|cellular response to mechanical stimulus|regulation of actin filament-based process	cell-cell junction|stress fiber	actin binding|calmodulin binding			endometrium(1)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	10		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)		GGTGGGCATGACGGCTCCCGG	0.617													10	114					0	0	1	0	0	G	1037633	A	G	1037633	3	3	81	1	0	0	0	0	1	0	0	0	3633	275	10	3	690	3	CNN2	19	1037633	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	151725	1037633	58091350	13070	16686											
ABCA7	10347	broad.mit.edu	37	19	1043735	1043735	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:1043735C>A	ENST00000263094.6	+	10	1173	c.942C>A	c.(940-942)acC>acA	p.T314T	ABCA7_ENST00000435683.2_Silent_p.T176T|ABCA7_ENST00000433129.1_Silent_p.T314T	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	314					phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity			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)		TGAACCGGACCTTCGAGGAGC	0.632													53	82					1.67886e-27	2.2306e-27	1	1	0	A	1043735	C	A	1043735	2	1	81	1	0	0	0	0	0	0	0	1	37	668	24	4		4	ABCA7	19	1043735	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	6102	1043735	58085248	13071	16687											
ABCA7	10347	broad.mit.edu	37	19	1046330	1046330	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:1046330G>A	ENST00000263094.6	+	13	1778	c.1547G>A	c.(1546-1548)cGc>cAc	p.R516H	ABCA7_ENST00000435683.2_Missense_Mutation_p.R378H|ABCA7_ENST00000533574.1_3'UTR|ABCA7_ENST00000433129.1_Missense_Mutation_p.R516H	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	516					phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity	p.R516H(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)		GCAGCCGTCCGCGTGCTCAGC	0.692													21	242					0	0	1	0	0	A	1046330	G	A	1046330	3	1	81	1	0	0	0	0	1	0	0	0	37	1087	38	1	1593	1	ABCA7	19	1046330	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2595	1046330	58082653	13072	16688											
HMHA1	23526	broad.mit.edu	37	19	1080929	1080929	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:1080929G>A	ENST00000313093.2	+	17	2287	c.2056G>A	c.(2056-2058)Gtg>Atg	p.V686M	HMHA1_ENST00000590577.1_Missense_Mutation_p.V321M|HMHA1_ENST00000536472.1_Missense_Mutation_p.V554M|HMHA1_ENST00000586866.1_Missense_Mutation_p.V690M|HMHA1_ENST00000539243.2_Missense_Mutation_p.V702M|HMHA1_ENST00000590214.1_Missense_Mutation_p.V713M|HMHA1_ENST00000543365.1_Missense_Mutation_p.V569M	NM_012292.3	NP_036424.2	Q92619	HMHA1_HUMAN	histocompatibility (minor) HA-1	686					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(7)|ovary(1)|prostate(2)	16		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)		GCCGGTGGCCGTGCCCAGTGG	0.706													3	10					0	0	1	0	0	A	1080929	G	A	1080929	3	1	81	1	0	0	0	0	1	0	0	0	7281	1145	40	1	2122	1	HMHA1	19	1080929	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	34599	1080929	58048054	13073	16689											
GPX4	2879	broad.mit.edu	37	19	1106423	1106423	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:1106423G>A	ENST00000354171.8	+	6	633	c.526G>A	c.(526-528)Gtg>Atg	p.V176M	GPX4_ENST00000589115.1_Silent_p.A167A	NM_001039847.1|NM_002085.3	NP_001034936.1|NP_002076.2	P36969	GPX4_HUMAN	glutathione peroxidase 4	176					multicellular organismal development|phospholipid metabolic process		glutathione peroxidase activity|phospholipid-hydroperoxide glutathione peroxidase activity			endometrium(1)|kidney(2)	3		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;0.000172)|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)	Glutathione(DB00143)	GAACGGCTGCGTGGTGAAGCG	0.647													13	44					0	0	1	0	0	A	1106423	G	A	1106423	3	1	81	1	0	0	0	0	1	0	0	0	6783	1145	40	1	769	1	GPX4	19	1106423	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	25494	1106423	58022560	13074	16690											
STK11	6794	broad.mit.edu	37	19	1220378	1220378	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:1220378C>T	ENST00000326873.7	+	4	1644	c.471C>T	c.(469-471)ttC>ttT	p.F157F		NM_000455.4	NP_000446.1	Q15831	STK11_HUMAN	serine/threonine kinase 11	157	Protein kinase.		F -> S (in sporadic cancer; somatic mutation; impairs heterotrimeric complex assembly with STRADA and CAB39).		anoikis|cell cycle arrest|energy reserve metabolic process|insulin receptor signaling pathway|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.0?(20)|p.Y156fs*87(4)|p.?(4)		biliary_tract(1)|breast(3)|cervix(35)|gastrointestinal_tract_(site_indeterminate)(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|liver(1)|lung(219)|oesophagus(1)|ovary(4)|pancreas(6)|prostate(2)|skin(15)|small_intestine(1)|stomach(9)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	328		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|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)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18)		GCAGGTACTTCTGTCAGCTGA	0.642		14	"D, Mis, N, F, S"		"NSCLC, pancreatic"	"jejunal harmartoma, ovarian, testicular, pancreatic"			Peutz-Jeghers syndrome	TSP Lung(3;<1E-08)			3	2					0	0	1	0	0	T	1220378	C	T	1220378	2	4	81	1	0	0	0	0	0	0	0	1	15343	912	32	2		2	STK11	19	1220378	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	113955	1220378	57908605	13075	16691											
C19orf26	255057	broad.mit.edu	37	19	1231117	1231117	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:1231117C>T	ENST00000590083.1	-	9	1429	c.1137G>A	c.(1135-1137)ccG>ccA	p.P379P	C19orf26_ENST00000382477.2_Silent_p.P399P|C19orf26_ENST00000215376.6_Silent_p.P373P			Q8N350	DOS_HUMAN	chromosome 19 open reading frame 26	399						integral to membrane				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	9		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|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)		GAGCAGGGGGCGGGCTGGCCA	0.701										HNSCC(14;0.022)			9	15					0	0	1	0	0	T	1231117	C	T	1231117	2	4	81	1	0	0	0	0	0	0	0	1	1928	755	27	1		1	C19orf26	19	1231117	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	10739	1231117	57897866	13076	16692											
C19orf26	255057	broad.mit.edu	37	19	1231256	1231256	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:1231256T>C	ENST00000590083.1	-	9	1290	c.998A>G	c.(997-999)cAc>cGc	p.H333R	C19orf26_ENST00000382477.2_Missense_Mutation_p.H353R|C19orf26_ENST00000215376.6_Missense_Mutation_p.H327R			Q8N350	DOS_HUMAN	chromosome 19 open reading frame 26	353						integral to membrane				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	9		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|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)		CCGCTGGAAGTGGTGCCGCTT	0.682										HNSCC(14;0.022)			6	55					0	0	1	0	0	C	1231256	T	C	1231256	3	2	81	1	0	0	0	0	1	0	0	0	1928	1696	59	3	367	3	C19orf26	19	1231256	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	139	1231256	57897727	13077	16693											
MUM1	84939	broad.mit.edu	37	19	1364551	1364552	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:1364551_1364552insA	ENST00000311401.5	+	7	1439_1440	c.1053_1054insA	c.(1054-1056)aaafs	p.K352fs	MUM1_ENST00000415183.3_Frame_Shift_Ins_p.K421fs|MUM1_ENST00000344663.3_Frame_Shift_Ins_p.K421fs|MUM1_ENST00000591806.1_Frame_Shift_Ins_p.K421fs			Q2TAK8	MUM1_HUMAN	melanoma associated antigen (mutated) 1	420					chromatin organization|DNA repair	nucleus	nucleosome binding|protein binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;0.000172)|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)		GGCATAAACATAAAAAATACCC	0.337											OREG0025116	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	16	51	---	---	---	---						A	1364552	-	A	1364551	7	5	81	1	0	1	1	0	0	0	0	0	10033	1403	49	0	1282	0	MUM1	19	1364551	Frame_Shift_Ins	INS	-	TCGA-DU-6392-01A-11D-1705-08	133295	1364551	57764432	13078	16694											
NDUFS7	374291	broad.mit.edu	37	19	1390944	1390944	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:1390944C>T	ENST00000313408.7	+	5	326	c.303C>T	c.(301-303)taC>taT	p.Y101Y	NDUFS7_ENST00000539480.1_Silent_p.Y101Y|NDUFS7_ENST00000414651.2_Silent_p.Y131Y|NDUFS7_ENST00000233627.9_Silent_p.Y101Y|NDUFS7_ENST00000546283.1_Silent_p.Y101Y|NDUFS7_ENST00000540530.1_3'UTR			O75251	NDUS7_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 7, 20kDa (NADH-coenzyme Q reductase)	101					mitochondrial electron transport, NADH to ubiquinone|mitochondrial respiratory chain complex I assembly|transport	mitochondrial respiratory chain complex I	4 iron, 4 sulfur cluster binding|metal ion binding|NADH dehydrogenase (ubiquinone) activity|protein binding|quinone binding			ovary(1)	1		Acute lymphoblastic leukemia(61;5.61e-13)|all_hematologic(61;2.65e-08)|Breast(49;0.00186)|Lung NSC(49;0.00292)|all_lung(49;0.00419)		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)	NADH(DB00157)	CACCCCGCTACGACATGGACC	0.667													4	37					0	0	1	0	0	T	1390944	C	T	1390944	2	4	81	1	0	0	0	0	0	0	0	1	10344	547	19	1		1	NDUFS7	19	1390944	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	26393	1390944	57738039	13079	16695											
DAZAP1	26528	broad.mit.edu	37	19	1422373	1422373	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:1422373C>T	ENST00000336761.6	+	6	646	c.441C>T	c.(439-441)gaC>gaT	p.D147D	DAZAP1_ENST00000586579.1_3'UTR|DAZAP1_ENST00000233078.4_Silent_p.D147D	NM_170711.1	NP_733829.1	Q96EP5	DAZP1_HUMAN	DAZ associated protein 1	147	RRM 2.				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	nucleotide binding|RNA binding			breast(2)|endometrium(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	9		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|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)		TGATCTATGACGCCGAGAAGC	0.612													39	72					0	0	1	0	0	T	1422373	C	T	1422373	2	4	81	1	0	0	0	0	0	0	0	1	4268	535	19	1		1	DAZAP1	19	1422373	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	31429	1422373	57706610	13080	16696											
APC2	10297	broad.mit.edu	37	19	1462051	1462051	+	Silent	SNP	C	C	T	rs148957868		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:1462051C>T	ENST00000535453.1	+	13	3441	c.1728C>T	c.(1726-1728)ggC>ggT	p.G576G	C19orf25_ENST00000588427.1_Intron|APC2_ENST00000233607.2_Silent_p.G576G|CTB-25B13.12_ENST00000588225.1_RNA|APC2_ENST00000238483.4_Silent_p.G302G			O95996	APC2_HUMAN	adenomatosis polyposis coli 2	576					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|Wnt receptor signaling pathway	actin filament|catenin complex|cytoplasmic microtubule|Golgi membrane|lamellipodium membrane|perinuclear region of cytoplasm	beta-catenin binding|microtubule binding			breast(3)|cervix(1)|kidney(4)|large_intestine(2)|lung(5)|pancreas(1)|skin(2)	18		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|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)		AGGTGGATGGCGCCCTGGGCT	0.632													16	23					0	0	1	0	0	T	1462051	C	T	1462051	2	4	81	1	0	0	0	0	0	0	0	1	760	755	27	1		1	APC2	19	1462051	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	39678	1462051	57666932	13081	16697											
PCSK4	54760	broad.mit.edu	37	19	1486973	1486973	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:1486973C>A	ENST00000300954.5	-	8	1008	c.947G>T	c.(946-948)aGc>aTc	p.S316I		NM_017573.3	NP_060043.2	Q6UW60	PCSK4_HUMAN	proprotein convertase subtilisin/kexin type 4	316	Catalytic (By similarity).				proteolysis	integral to membrane	serine-type endopeptidase activity			cervix(2)|endometrium(2)|kidney(1)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	15		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|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)		CGTGTGGATGCTGTTGGTGTA	0.682													6	60					0.0293803	0.0300537	1	1	0	A	1486973	C	A	1486973	3	1	81	1	0	0	0	0	1	0	0	0	11649	797	28	4	1352	4	PCSK4	19	1486973	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	24922	1486973	57642010	13082	16698											
PCSK4	54760	broad.mit.edu	37	19	1487017	1487017	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:1487017G>A	ENST00000300954.5	-	8	964	c.903C>T	c.(901-903)ggC>ggT	p.G301G		NM_017573.3	NP_060043.2	Q6UW60	PCSK4_HUMAN	proprotein convertase subtilisin/kexin type 4	301	Catalytic (By similarity).				proteolysis	integral to membrane	serine-type endopeptidase activity			cervix(2)|endometrium(2)|kidney(1)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	15		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|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)		AGTGCAGGCCGCCGTTGCCCG	0.706													7	49					0	0	1	0	0	A	1487017	G	A	1487017	2	1	81	1	0	0	0	0	0	0	0	1	11649	1074	38	1		1	PCSK4	19	1487017	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	44	1487017	57641966	13083	16699											
ADAMTSL5	339366	broad.mit.edu	37	19	1507280	1507280	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:1507280C>T	ENST00000330475.4	-	9	1256	c.813G>A	c.(811-813)ttG>ttA	p.L271L	ADAMTSL5_ENST00000413997.2_Silent_p.L281L|ADAMTSL5_ENST00000590562.1_5'UTR|ADAMTSL5_ENST00000395467.2_Silent_p.L40L	NM_213604.2	NP_998769.2	Q6ZMM2	ATL5_HUMAN	ADAMTS-like 5	271						proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			cervix(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	10		Acute lymphoblastic leukemia(61;5.61e-13)|all_hematologic(61;2.65e-08)		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)		CGGCTGCTTGCAATGTCTCCT	0.667													29	45					0	0	1	0	0	T	1507280	C	T	1507280	2	4	81	1	0	0	0	0	0	0	0	1	277	709	25	2		2	ADAMTSL5	19	1507280	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	20263	1507280	57621703	13084	16700											
MEX3D	399664	broad.mit.edu	37	19	1555379	1555379	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:1555379G>A	ENST00000388824.6	-	3	1951	c.1952C>T	c.(1951-1953)aCg>aTg	p.T651M	MEX3D_ENST00000402693.4_3'UTR	NM_001174118.1	NP_001167589.1	Q86XN8	MEX3D_HUMAN	mex-3 RNA binding family member D	0					mRNA destabilization|posttranscriptional regulation of gene expression by mRNA localization|regulation of anti-apoptosis	nucleus|perinuclear region of cytoplasm	AU-rich element binding|zinc ion binding			endometrium(1)|lung(3)	4		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|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)		CGGGGTCTCCGTCTCCACGCC	0.637													17	25					0	0	1	0	0	A	1555379	G	A	1555379	3	1	81	1	0	0	0	0	1	0	0	0	9562	1145	40	1	52	1	MEX3D	19	1555379	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	48099	1555379	57573604	13085	16701											
MEX3D	399664	broad.mit.edu	37	19	1556539	1556539	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:1556539C>T	ENST00000402693.4	-	2	978	c.979G>A	c.(979-981)Gtg>Atg	p.V327M	MEX3D_ENST00000388824.6_Missense_Mutation_p.V327M	NM_203304.3	NP_976049.3	Q86XN8	MEX3D_HUMAN	mex-3 RNA binding family member D	327	KH 2.				mRNA destabilization|posttranscriptional regulation of gene expression by mRNA localization|regulation of anti-apoptosis	nucleus|perinuclear region of cytoplasm	AU-rich element binding|zinc ion binding			endometrium(1)|lung(3)	4		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|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)		GCGCGGTCCACGTTCTCGGGC	0.697													4	14					0	0	1	0	0	T	1556539	C	T	1556539	3	4	81	1	0	0	0	0	1	0	0	0	9562	536	19	1	1043	1	MEX3D	19	1556539	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1160	1556539	57572444	13086	16702											
MBD3	53615	broad.mit.edu	37	19	1578393	1578393	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:1578393G>A	ENST00000590550.2	-	5	1027	c.654C>T	c.(652-654)gaC>gaT	p.D218D	UQCR11_ENST00000585937.1_3'UTR|MBD3_ENST00000434436.3_Silent_p.D274D|MBD3_ENST00000156825.1_Silent_p.D274D|MBD3_ENST00000592012.1_Silent_p.D242D			O95983	MBD3_HUMAN	methyl-CpG binding domain protein 3	274					transcription, DNA-dependent	NuRD complex	DNA binding|protein binding			central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	8		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|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)|Lung(535;0.179)|STAD - Stomach adenocarcinoma(1328;0.18)		cctcctcctcgtcttcctcgt	0.716													9	18					0	0	1	0	0	A	1578393	G	A	1578393	2	1	81	1	0	0	0	0	0	0	0	1	9394	1136	40	1		1	MBD3	19	1578393	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	21854	1578393	57550590	13087	16703											
REXO1	57455	broad.mit.edu	37	19	1821569	1821569	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:1821569C>T	ENST00000170168.4	-	5	2437	c.2343G>A	c.(2341-2343)aaG>aaA	p.K781K		NM_020695.3	NP_065746.3	Q8N1G1	REXO1_HUMAN	REX1, RNA exonuclease 1 homolog (S. cerevisiae)	781						nucleus	exonuclease activity|nucleic acid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	16		Ovarian(11;1.78e-06)|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)		TGGTGGTAGTCTTGGACGCCA	0.632													39	66					0	0	1	0	0	T	1821569	C	T	1821569	2	4	81	1	0	0	0	0	0	0	0	1	13293	912	32	2		2	REXO1	19	1821569	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	243176	1821569	57307414	13088	16704											
REXO1	57455	broad.mit.edu	37	19	1827631	1827631	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:1827631G>A	ENST00000170168.4	-	2	1251	c.1157C>T	c.(1156-1158)gCc>gTc	p.A386V		NM_020695.3	NP_065746.3	Q8N1G1	REXO1_HUMAN	REX1, RNA exonuclease 1 homolog (S. cerevisiae)	386						nucleus	exonuclease activity|nucleic acid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	16		Ovarian(11;1.78e-06)|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)		GCAGCTGGGGGCAGGTGGGGC	0.672													8	20					0	0	1	0	0	A	1827631	G	A	1827631	3	1	81	1	0	0	0	0	1	0	0	0	13293	1203	42	2	2568	2	REXO1	19	1827631	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	6062	1827631	57301352	13089	16705											
SCAMP4	113178	broad.mit.edu	37	19	1918987	1918987	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:1918987G>A	ENST00000316097.8	+	5	660	c.393G>A	c.(391-393)gcG>gcA	p.A131A	SCAMP4_ENST00000409472.1_Intron|SCAMP4_ENST00000414057.2_3'UTR	NM_079834.2	NP_524558.1	Q969E2	SCAM4_HUMAN	secretory carrier membrane protein 4	131					protein transport	integral to membrane							Ovarian(11;2.11e-07)|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)		GCTGGGGCGCGTGGTAAGCCT	0.612													3	8					0	0	1	0	0	A	1918987	G	A	1918987	2	1	81	1	0	0	0	0	0	0	0	1	13926	1132	40	1		1	SCAMP4	19	1918987	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	91356	1918987	57209996	13090	16706											
CSNK1G2	1455	broad.mit.edu	37	19	1978308	1978308	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:1978308G>A	ENST00000255641.8	+	3	687	c.192G>A	c.(190-192)aaG>aaA	p.K64K		NM_001319.6	NP_001310.3	P78368	KC1G2_HUMAN	casein kinase 1, gamma 2	64	Protein kinase.				sphingolipid metabolic process|Wnt receptor signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity			endometrium(1)|kidney(1)|lung(3)|prostate(1)|skin(1)|stomach(1)	8		Ovarian(11;2.11e-07)|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)		CCGCAGGAAAGAATCTCTATA	0.657													9	39					0	0	1	0	0	A	1978308	G	A	1978308	2	1	81	1	0	0	0	0	0	0	0	1	3980	933	33	2		2	CSNK1G2	19	1978308	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	59321	1978308	57150675	13091	16707											
CSNK1G2	1455	broad.mit.edu	37	19	1978330	1978330	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:1978330G>A	ENST00000255641.8	+	3	709	c.214G>A	c.(214-216)Gtg>Atg	p.V72M		NM_001319.6	NP_001310.3	P78368	KC1G2_HUMAN	casein kinase 1, gamma 2	72	Protein kinase.				sphingolipid metabolic process|Wnt receptor signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity			endometrium(1)|kidney(1)|lung(3)|prostate(1)|skin(1)|stomach(1)	8		Ovarian(11;2.11e-07)|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)		AAATGAATACGTGGCTATCAA	0.642													4	42					0	0	1	0	0	A	1978330	G	A	1978330	3	1	81	1	0	0	0	0	1	0	0	0	3980	1145	40	1	220	1	CSNK1G2	19	1978330	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	22	1978330	57150653	13092	16708											
CSNK1G2	1455	broad.mit.edu	37	19	1980185	1980185	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:1980185C>T	ENST00000255641.8	+	12	1726	c.1231C>T	c.(1231-1233)Ctg>Ttg	p.L411L		NM_001319.6	NP_001310.3	P78368	KC1G2_HUMAN	casein kinase 1, gamma 2	411					sphingolipid metabolic process|Wnt receptor signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity			endometrium(1)|kidney(1)|lung(3)|prostate(1)|skin(1)|stomach(1)	8		Ovarian(11;2.11e-07)|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)		GAGAAAATCGCTGCAGCGACA	0.657													23	29					0	0	1	0	0	T	1980185	C	T	1980185	2	4	81	1	0	0	0	0	0	0	0	1	3980	796	28	2		2	CSNK1G2	19	1980185	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1855	1980185	57148798	13093	16709											
BTBD2	55643	broad.mit.edu	37	19	1987624	1987624	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:1987624G>T	ENST00000255608.4	-	6	1072	c.1056C>A	c.(1054-1056)aaC>aaA	p.N352K		NM_017797.3	NP_060267.2	Q9BX70	BTBD2_HUMAN	BTB (POZ) domain containing 2	352						cytoplasmic mRNA processing body	protein binding			endometrium(5)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|stomach(1)	12		Ovarian(11;2.11e-07)|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)		GTGGCTTGGGGTTGACGGTGA	0.667													6	12					5.9392e-07	6.87481e-07	1	1	0	T	1987624	G	T	1987624	3	4	81	1	0	0	0	0	1	0	0	0	1546	1252	44	5	537	5	BTBD2	19	1987624	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	7439	1987624	57141359	13094	16710											
AP3D1	8943	broad.mit.edu	37	19	2116215	2116215	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:2116215C>T	ENST00000355272.6	-	18	2270	c.2064G>A	c.(2062-2064)tcG>tcA	p.S688S	AP3D1_ENST00000345016.5_Silent_p.S688S|AP3D1_ENST00000356926.4_Silent_p.S597S|AP3D1_ENST00000350812.6_Silent_p.S519S	NM_001261826.1	NP_001248755.1	O14617	AP3D1_HUMAN	adaptor-related protein complex 3, delta 1 subunit	688					eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport	endosome membrane|Golgi membrane|membrane coat	binding|protein transporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(23)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		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)		CCTTCTGTGGCGATGGCGAGC	0.652													8	20					0	0	1	0	0	T	2116215	C	T	2116215	2	4	81	1	0	0	0	0	0	0	0	1	742	755	27	1		1	AP3D1	19	2116215	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	128591	2116215	57012768	13095	16711											
AP3D1	8943	broad.mit.edu	37	19	2130455	2130455	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:2130455G>A	ENST00000355272.6	-	6	750	c.544C>T	c.(544-546)Cgc>Tgc	p.R182C	AP3D1_ENST00000345016.5_Missense_Mutation_p.R182C|AP3D1_ENST00000356926.4_Intron|AP3D1_ENST00000350812.6_Intron	NM_001261826.1	NP_001248755.1	O14617	AP3D1_HUMAN	adaptor-related protein complex 3, delta 1 subunit	182					eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport	endosome membrane|Golgi membrane|membrane coat	binding|protein transporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(23)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		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)		AAGGCAGGGCGCAGCGACTCG	0.607													40	46					0	0	1	0	0	A	2130455	G	A	2130455	3	1	81	1	0	0	0	0	1	0	0	0	742	1087	38	1	3175	1	AP3D1	19	2130455	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	14240	2130455	56998528	13096	16712											
DOT1L	84444	broad.mit.edu	37	19	2216348	2216348	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:2216348G>A	ENST00000398665.3	+	20	2028	c.1992G>A	c.(1990-1992)ccG>ccA	p.P664P	DOT1L_ENST00000608122.1_3'UTR	NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN	DOT1-like histone H3K79 methyltransferase	664						nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42		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)		CCTGTGTGCCGCCTGACGACG	0.677													5	44					0	0	1	0	0	A	2216348	G	A	2216348	2	1	81	1	0	0	0	0	0	0	0	1	4736	1074	38	1		1	DOT1L	19	2216348	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	85893	2216348	56912635	13097	16713											
DOT1L	84444	broad.mit.edu	37	19	2216561	2216561	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:2216561G>A	ENST00000398665.3	+	20	2241	c.2205G>A	c.(2203-2205)acG>acA	p.T735T	DOT1L_ENST00000608122.1_3'UTR	NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN	DOT1-like histone H3K79 methyltransferase	735						nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42		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)		AGCAGAACACGCCCCAGTACC	0.667													25	29					0	0	1	0	0	A	2216561	G	A	2216561	2	1	81	1	0	0	0	0	0	0	0	1	4736	1074	38	1		1	DOT1L	19	2216561	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	213	2216561	56912422	13098	16714											
DOT1L	84444	broad.mit.edu	37	19	2216658	2216658	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:2216658G>A	ENST00000398665.3	+	20	2338	c.2302G>A	c.(2302-2304)Gca>Aca	p.A768T		NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN	DOT1-like histone H3K79 methyltransferase	768						nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42		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)		TGGCCTAGCCGCACCCGACTA	0.697													15	22					0	0	1	0	0	A	2216658	G	A	2216658	3	1	81	1	0	0	0	0	1	0	0	0	4736	1087	38	1	2380	1	DOT1L	19	2216658	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	97	2216658	56912325	13099	16715											
DOT1L	84444	broad.mit.edu	37	19	2226610	2226610	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:2226610G>A	ENST00000398665.3	+	27	4126	c.4090G>A	c.(4090-4092)Gcc>Acc	p.A1364T		NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN	DOT1-like histone H3K79 methyltransferase	1364						nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42		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)		GGGCTCGGACGCCAACCCTTT	0.706													8	5					0	0	1	0	0	A	2226610	G	A	2226610	3	1	81	1	0	0	0	0	1	0	0	0	4736	1087	38	1	4196	1	DOT1L	19	2226610	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	9952	2226610	56902373	13100	16716											
LINGO3	645191	broad.mit.edu	37	19	2290284	2290284	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:2290284G>A	ENST00000585527.1	-	1	1739	c.1492C>T	c.(1492-1494)Cgc>Tgc	p.R498C	LINGO3_ENST00000404279.1_Missense_Mutation_p.R498C			P0C6S8	LIGO3_HUMAN	leucine rich repeat and Ig domain containing 3	498						integral to membrane				lung(1)|urinary_tract(1)	2						GGCTCGGGGCGCACGGTCAGC	0.736													4	6					0	0	1	0	0	A	2290284	G	A	2290284	3	1	81	1	0	0	0	0	1	0	0	0	8857	1087	38	1	290	1	LINGO3	19	2290284	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	63674	2290284	56838699	13101	16717											
TMPRSS9	360200	broad.mit.edu	37	19	2399191	2399191	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:2399191G>T	ENST00000332578.3	+	3	412	c.412G>T	c.(412-414)Ggg>Tgg	p.G138W		NM_182973.1	NP_892018.1	Q7Z410	TMPS9_HUMAN	transmembrane protease, serine 9	138					proteolysis	integral to plasma membrane	serine-type endopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				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)		TGAGCTCACAGGTGAGTGGGC	0.587													12	11					0.00244969	0.00258825	1	1	0	T	2399191	G	T	2399191	5	4	81	1	0	0	0	0	0	0	1	0	16313	1014	35	4	422	4	TMPRSS9	19	2399191	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	108907	2399191	56729792	13102	16718											
TMPRSS9	360200	broad.mit.edu	37	19	2405420	2405420	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:2405420G>A	ENST00000332578.3	+	6	617	c.617G>A	c.(616-618)gGc>gAc	p.G206D		NM_182973.1	NP_892018.1	Q7Z410	TMPS9_HUMAN	transmembrane protease, serine 9	206	Peptidase S1 1.				proteolysis	integral to plasma membrane	serine-type endopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				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)		ATCGTGGGCGGCATGGAAGCA	0.642													18	44					0	0	1	0	0	A	2405420	G	A	2405420	3	1	81	1	0	0	0	0	1	0	0	0	16313	1203	42	2	639	2	TMPRSS9	19	2405420	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	6229	2405420	56723563	13103	16719											
TMPRSS9	360200	broad.mit.edu	37	19	2405514	2405514	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:2405514G>A	ENST00000332578.3	+	6	711	c.711G>A	c.(709-711)tgG>tgA	p.W237*		NM_182973.1	NP_892018.1	Q7Z410	TMPS9_HUMAN	transmembrane protease, serine 9	237	Peptidase S1 1.				proteolysis	integral to plasma membrane	serine-type endopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				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)		ACGCCAGGTGGCTGGTGTCTG	0.597													8	38					0	0	1	0	0	A	2405514	G	A	2405514	4	1	81	1	0	0	0	0	0	1	0	0	16313	1212	42	2	733	2	TMPRSS9	19	2405514	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	94	2405514	56723469	13104	16720											
TMPRSS9	360200	broad.mit.edu	37	19	2416729	2416729	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:2416729C>A	ENST00000332578.3	+	11	1837	c.1837C>A	c.(1837-1839)Ctg>Atg	p.L613M		NM_182973.1	NP_892018.1	Q7Z410	TMPS9_HUMAN	transmembrane protease, serine 9	613	Peptidase S1 2.				proteolysis	integral to plasma membrane	serine-type endopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				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)		GCCTGTCTGCCTGCCCCTGGC	0.617													5	26					1.23904e-05	1.39156e-05	1	1	0	A	2416729	C	A	2416729	3	1	81	1	0	0	0	0	1	0	0	0	16313	680	24	4	1879	4	TMPRSS9	19	2416729	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	11215	2416729	56712254	13105	16721											
TMPRSS9	360200	broad.mit.edu	37	19	2421892	2421892	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:2421892G>A	ENST00000332578.3	+	13	2093	c.2093G>A	c.(2092-2094)gGc>gAc	p.G698D		NM_182973.1	NP_892018.1	Q7Z410	TMPS9_HUMAN	transmembrane protease, serine 9	698	Peptidase S1 2.				proteolysis	integral to plasma membrane	serine-type endopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				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)		GAGGCCCCTGGCGTGTTTTAT	0.617													26	54					0	0	1	0	0	A	2421892	G	A	2421892	3	1	81	1	0	0	0	0	1	0	0	0	16313	1203	42	2	2143	2	TMPRSS9	19	2421892	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	5163	2421892	56707091	13106	16722											
LMNB2	84823	broad.mit.edu	37	19	2434897	2434897	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:2434897C>A	ENST00000325327.3	-	6	932	c.870G>T	c.(868-870)aaG>aaT	p.K290N	LMNB2_ENST00000582871.1_Missense_Mutation_p.K270N			Q03252	LMNB2_HUMAN	lamin B2	270	Coil 2.|Rod.					nuclear inner membrane	structural molecule activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18		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)		CAGAGCTCAGCTTGGCGCTGT	0.746													3	18					0.014758	0.0152304	1	1	0	A	2434897	C	A	2434897	3	1	81	1	0	0	0	0	1	0	0	0	8891	796	28	4	1020	4	LMNB2	19	2434897	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	13005	2434897	56694086	13107	16723											
DIRAS1	148252	broad.mit.edu	37	19	2717757	2717757	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:2717757G>A	ENST00000323469.4	-	2	231	c.48C>T	c.(46-48)ggC>ggT	p.G16G	DIRAS1_ENST00000585334.1_Silent_p.G16G	NM_145173.3	NP_660156.1	O95057	DIRA1_HUMAN	DIRAS family, GTP-binding RAS-like 1	16					small GTPase mediated signal transduction	intracellular|plasma membrane	GTP binding|GTPase activity			kidney(1)|lung(2)|ovary(2)|prostate(1)	6				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)		TGCCCACGCCGCCCGCCCCGA	0.682													12	22					0	0	1	0	0	A	2717757	G	A	2717757	2	1	81	1	0	0	0	0	0	0	0	1	4558	1074	38	1		1	DIRAS1	19	2717757	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	282860	2717757	56411226	13108	16724											
SLC39A3	29985	broad.mit.edu	37	19	2732805	2732805	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:2732805G>T	ENST00000269740.4	-	3	1218	c.889C>A	c.(889-891)Ctc>Atc	p.L297I	SLC39A3_ENST00000545664.1_Missense_Mutation_p.L297I|AC006538.4_ENST00000586572.1_Intron	NM_144564.4	NP_653165.2	Q9BRY0	S39A3_HUMAN	solute carrier family 39 (zinc transporter), member 3	297						integral to membrane|plasma membrane	zinc ion transmembrane transporter activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	10		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)		ACCAGGAAGAGGACCTTGAGC	0.667													22	37					2.39556e-15	3.05451e-15	1	1	0	T	2732805	G	T	2732805	3	4	81	1	0	0	0	0	1	0	0	0	14674	1000	35	4	59	4	SLC39A3	19	2732805	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	15048	2732805	56396178	13109	16725											
SGTA	6449	broad.mit.edu	37	19	2759266	2759266	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:2759266C>A	ENST00000221566.2	-	9	887	c.726G>T	c.(724-726)caG>caT	p.Q242H		NM_003021.3	NP_003012.1	O43765	SGTA_HUMAN	small glutamine-rich tetratricopeptide repeat (TPR)-containing, alpha	242					interspecies interaction between organisms	cytoplasm	protein binding			endometrium(2)|large_intestine(2)|lung(2)|ovary(1)	7		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)		GCTGCTGAATCTGGGGATTGT	0.403													12	97					7.93312e-07	9.15943e-07	1	1	0	A	2759266	C	A	2759266	3	1	81	1	0	0	0	0	1	0	0	0	14279	912	32	4	227	4	SGTA	19	2759266	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	26461	2759266	56369717	13110	16726											
THOP1	7064	broad.mit.edu	37	19	2794832	2794832	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:2794832G>T	ENST00000307741.6	+	3	503	c.300G>T	c.(298-300)gaG>gaT	p.E100D		NM_003249.3	NP_003240.1	P52888	THOP1_HUMAN	thimet oligopeptidase 1	100					proteolysis	cytoplasm	metal ion binding|metalloendopeptidase activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(1)|lung(8)|ovary(2)|skin(1)	14				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)		CCAGCACAGAGGCCGACAAGA	0.587													41	88					5.04308e-16	6.45845e-16	1	1	0	T	2794832	G	T	2794832	3	4	81	1	0	0	0	0	1	0	0	0	15931	991	35	4	310	4	THOP1	19	2794832	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	35566	2794832	56334151	13111	16727											
THOP1	7064	broad.mit.edu	37	19	2794857	2794857	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:2794857G>A	ENST00000307741.6	+	3	528	c.325G>A	c.(325-327)Gac>Aac	p.D109N		NM_003249.3	NP_003240.1	P52888	THOP1_HUMAN	thimet oligopeptidase 1	109					proteolysis	cytoplasm	metal ion binding|metalloendopeptidase activity|protein binding	p.D109N(1)		NS(1)|central_nervous_system(1)|endometrium(1)|lung(8)|ovary(2)|skin(1)	14				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)		CTCTGAGTTCGACGTGGAGAT	0.567													32	58					0	0	1	0	0	A	2794857	G	A	2794857	3	1	81	1	0	0	0	0	1	0	0	0	15931	1058	37	1	335	1	THOP1	19	2794857	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	25	2794857	56334126	13112	16728											
ZNF555	148254	broad.mit.edu	37	19	2853330	2853330	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:2853330C>T	ENST00000334241.4	+	4	1405	c.1267C>T	c.(1267-1269)Ccc>Tcc	p.P423S	AC006130.3_ENST00000589365.1_RNA|ZNF555_ENST00000591539.1_Missense_Mutation_p.P422S	NM_001172775.1|NM_152791.4	NP_001166246.1|NP_690004.4	Q8NEP9	ZN555_HUMAN	zinc finger protein 555	423					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(3)|urinary_tract(4)	23				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)		TGGAGAGAAACCCTATGAGTG	0.453													7	15					0	0	1	0	0	T	2853330	C	T	2853330	3	4	81	1	0	0	0	0	1	0	0	0	18043	507	18	2	1281	2	ZNF555	19	2853330	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	58473	2853330	56275653	13113	16729											
ZNF555	148254	broad.mit.edu	37	19	2853649	2853649	+	Missense_Mutation	SNP	C	C	T	rs146806424	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:2853649C>T	ENST00000334241.4	+	4	1724	c.1586C>T	c.(1585-1587)aCg>aTg	p.T529M	AC006130.3_ENST00000589365.1_RNA|ZNF555_ENST00000591539.1_Missense_Mutation_p.T528M	NM_001172775.1|NM_152791.4	NP_001166246.1|NP_690004.4	Q8NEP9	ZN555_HUMAN	zinc finger protein 555	529					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(3)|urinary_tract(4)	23				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)		CATGTGAGAACGCACACTGTA	0.418													33	46					0	0	1	0	0	T	2853649	C	T	2853649	3	4	81	1	0	0	0	0	1	0	0	0	18043	536	19	1	1600	1	ZNF555	19	2853649	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	319	2853649	56275334	13114	16730											
ZNF57	126295	broad.mit.edu	37	19	2917641	2917641	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:2917641G>A	ENST00000306908.5	+	4	1170	c.1022G>A	c.(1021-1023)tGt>tAt	p.C341Y	AC006277.2_ENST00000520090.2_RNA|ZNF57_ENST00000523428.1_Missense_Mutation_p.C309Y	NM_173480.2	NP_775751.1	Q68EA5	ZNF57_HUMAN	zinc finger protein 57	341					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				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)|GBM - Glioblastoma multiforme(1328;0.00161)|STAD - Stomach adenocarcinoma(1328;0.18)		TGTGAACACTGTGGGAAGGCT	0.448													16	33					0	0	1	0	0	A	2917641	G	A	2917641	3	1	81	1	0	0	0	0	1	0	0	0	18058	1377	48	2	1036	2	ZNF57	19	2917641	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	63992	2917641	56211342	13115	16731											
ZNF77	58492	broad.mit.edu	37	19	2934794	2934794	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:2934794A>G	ENST00000314531.4	-	4	423	c.331T>C	c.(331-333)Tgt>Cgt	p.C111R		NM_021217.2	NP_067040.1	Q15935	ZNF77_HUMAN	zinc finger protein 77	111					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)	17				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)|GBM - Glioblastoma multiforme(1328;2.11e-07)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.174)|STAD - Stomach adenocarcinoma(1328;0.18)		TTACTTTCACAGAGTCTCCCC	0.413													49	65					0	0	1	0	0	G	2934794	A	G	2934794	3	3	81	1	0	0	0	0	1	0	0	0	18192	188	7	3	1310	3	ZNF77	19	2934794	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	17153	2934794	56194189	13116	16732											
TLE2	7089	broad.mit.edu	37	19	3005496	3005496	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:3005496G>A	ENST00000262953.6	-	17	2097	c.1835C>T	c.(1834-1836)aCg>aTg	p.T612M	TLE2_ENST00000586422.1_Intron|TLE2_ENST00000591529.1_Missense_Mutation_p.T626M|TLE2_ENST00000443826.3_Missense_Mutation_p.T490M|TLE2_ENST00000590536.1_Missense_Mutation_p.T613M|TLE2_ENST00000447365.2_Missense_Mutation_p.T279M|TLE2_ENST00000455444.2_Missense_Mutation_p.T490M|TLE2_ENST00000426948.2_Missense_Mutation_p.T626M	NM_003260.4	NP_003251.2	Q04725	TLE2_HUMAN	transducin-like enhancer of split 2 (E(sp1) homolog, Drosophila)	612					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding|transcription corepressor activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	13				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)		GCAGCGCACCGTGTTGTCCAG	0.642													10	8					0	0	1	0	0	A	3005496	G	A	3005496	3	1	81	1	0	0	0	0	1	0	0	0	15999	1145	40	1	412	1	TLE2	19	3005496	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	70702	3005496	56123487	13117	16733											
TLE2	7089	broad.mit.edu	37	19	3013775	3013775	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:3013775G>A	ENST00000262953.6	-	11	1027	c.765C>T	c.(763-765)tgC>tgT	p.C255C	TLE2_ENST00000587217.1_5'UTR|TLE2_ENST00000586422.1_Intron|TLE2_ENST00000591529.1_Silent_p.C269C|TLE2_ENST00000443826.3_Silent_p.C133C|TLE2_ENST00000590536.1_Silent_p.C256C|TLE2_ENST00000447365.2_5'UTR|TLE2_ENST00000455444.2_Silent_p.C133C|TLE2_ENST00000426948.2_Silent_p.C269C	NM_003260.4	NP_003251.2	Q04725	TLE2_HUMAN	transducin-like enhancer of split 2 (E(sp1) homolog, Drosophila)	255	CCN domain.				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding|transcription corepressor activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	13				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)		GTACCTTTCCGCAGGGGGTGG	0.612													25	52					0	0	1	0	0	A	3013775	G	A	3013775	2	1	81	1	0	0	0	0	0	0	0	1	15999	1079	38	1		1	TLE2	19	3013775	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	8279	3013775	56115208	13118	16734											
GNA11	2767	broad.mit.edu	37	19	3115036	3115036	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:3115036G>A	ENST00000078429.4	+	4	813	c.571G>A	c.(571-573)Gag>Aag	p.E191K		NM_002067.2	NP_002058.2	P29992	GNA11_HUMAN	guanine nucleotide binding protein (G protein), alpha 11 (Gq class)	191					activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation|regulation of action potential	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)		CGGCATCATCGAGTACCCTTT	0.662			Mis		uveal melanoma								39	63					0	0	1	0	0	A	3115036	G	A	3115036	3	1	81	1	0	0	0	0	1	0	0	0	6541	1059	37	1	585	1	GNA11	19	3115036	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	101261	3115036	56013947	13119	16735											
GNA15	2769	broad.mit.edu	37	19	3151734	3151734	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:3151734A>G	ENST00000262958.3	+	4	773	c.515A>G	c.(514-516)gAg>gGg	p.E172G	AC005264.2_ENST00000587587.1_RNA	NM_002068.2	NP_002059.2	P30679	GNA15_HUMAN	guanine nucleotide binding protein (G protein), alpha 15 (Gq class)	172					activation of phospholipase C activity by dopamine receptor signaling pathway|activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			large_intestine(5)|lung(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;7.04e-05)|OV - Ovarian serous cystadenocarcinoma(105;5.08e-113)|Epithelial(107;6.19e-111)|all cancers(105;6.19e-103)|BRCA - Breast invasive adenocarcinoma(158;0.00145)|STAD - Stomach adenocarcinoma(1328;0.184)		CGCATCACCGAGGAGGGCTAC	0.632													4	119					0	0	1	0	0	G	3151734	A	G	3151734	3	3	81	1	0	0	0	0	1	0	0	0	6545	304	11	3	529	3	GNA15	19	3151734	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	36698	3151734	55977249	13120	16736											
NCLN	56926	broad.mit.edu	37	19	3192602	3192602	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:3192602G>A	ENST00000246117.4	+	2	750	c.319G>A	c.(319-321)Gcc>Acc	p.A107T	NCLN_ENST00000590671.1_Missense_Mutation_p.A33T	NM_020170.3	NP_064555.2	Q969V3	NCLN_HUMAN	nicalin	107					proteolysis|regulation of signal transduction	endoplasmic reticulum membrane|integral to membrane|nucleus	peptidase activity|protein binding			kidney(1)|lung(3)|skin(1)	5		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.83e-113)|Epithelial(107;1.65e-111)|all cancers(105;1.53e-103)|BRCA - Breast invasive adenocarcinoma(158;0.00139)|STAD - Stomach adenocarcinoma(1328;0.18)		GTCGGCGGGCGCCGTGGTCAT	0.716													11	8					0	0	1	0	0	A	3192602	G	A	3192602	3	1	81	1	0	0	0	0	1	0	0	0	10274	1087	38	1	325	1	NCLN	19	3192602	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	40868	3192602	55936381	13121	16737											
CELF5	60680	broad.mit.edu	37	19	3282219	3282219	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:3282219C>T	ENST00000541430.2	+	7	882	c.846C>T	c.(844-846)gcC>gcT	p.A282A	CELF5_ENST00000292672.2_Silent_p.A282A	NM_001172673.1	NP_001166144.1	Q8N6W0	CELF5_HUMAN	CUGBP, Elav-like family member 5	282					mRNA processing	cytoplasm|nucleus	nucleotide binding|RNA binding			kidney(1)|large_intestine(2)|lung(7)|ovary(2)|skin(1)	13						AGATAGGCGCCGTCAGCCTCA	0.647													22	30					0	0	1	0	0	T	3282219	C	T	3282219	2	4	81	1	0	0	0	0	0	0	0	1	3241	639	23	1		1	CELF5	19	3282219	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	89617	3282219	55846764	13122	16738											
NFIC	4782	broad.mit.edu	37	19	3382050	3382050	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:3382050C>T	ENST00000589123.1	+	2	464	c.344C>T	c.(343-345)gCg>gTg	p.A115V	NFIC_ENST00000346156.5_Missense_Mutation_p.A115V|NFIC_ENST00000395111.3_Missense_Mutation_p.A115V|NFIC_ENST00000443272.2_Missense_Mutation_p.A124V|NFIC_ENST00000341919.3_Missense_Mutation_p.A124V|NFIC_ENST00000586919.1_Missense_Mutation_p.A115V|NFIC_ENST00000590282.1_Missense_Mutation_p.A124V	NM_001245005.1|NM_205843.2	NP_001231934.1|NP_995315.1	P08651	NFIC_HUMAN	nuclear factor I/C (CCAAT-binding transcription factor)	124					DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;7.8e-05)|Epithelial(107;2.94e-108)|BRCA - Breast invasive adenocarcinoma(158;0.00154)|STAD - Stomach adenocarcinoma(1328;0.191)		CTCCGGCAGGCGGACAAGGTG	0.662													44	63					0	0	1	0	0	T	3382050	C	T	3382050	3	4	81	1	0	0	0	0	1	0	0	0	10419	768	27	1	384	1	NFIC	19	3382050	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	99831	3382050	55746933	13123	16739											
FZR1	51343	broad.mit.edu	37	19	3527008	3527008	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:3527008G>A	ENST00000441788.2	+	6	654	c.418G>A	c.(418-420)Gat>Aat	p.D140N	FZR1_ENST00000313639.8_Intron|FZR1_ENST00000395095.3_Missense_Mutation_p.D140N	NM_016263.3	NP_057347.2	Q9UM11	FZR_HUMAN	fizzy/cell division cycle 20 related 1 (Drosophila)	140					activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|DNA repair|G2/M transition DNA damage checkpoint|mitosis|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle	cytosol|nucleoplasm	protein binding			endometrium(1)|kidney(4)|liver(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)	13				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)		CTCCAGCCCCGATGACGGCAA	0.662													27	21					0	0	1	0	0	A	3527008	G	A	3527008	3	1	81	1	0	0	0	0	1	0	0	0	6173	1058	37	1	436	1	FZR1	19	3527008	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	144958	3527008	55601975	13124	16740											
TBXA2R	6915	broad.mit.edu	37	19	3600109	3600109	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:3600109G>A	ENST00000375190.4	-	2	917	c.524C>T	c.(523-525)aCc>aTc	p.T175I	TBXA2R_ENST00000587717.1_5'UTR|TBXA2R_ENST00000589966.1_Intron|TBXA2R_ENST00000411851.3_Missense_Mutation_p.T175I	NM_001060.5|NM_201636.2	NP_001051.1|NP_963998.2	P21731	TA2R_HUMAN	thromboxane A2 receptor	175					platelet activation	integral to plasma membrane	guanyl-nucleotide exchange factor activity|protein binding|thromboxane A2 receptor activity			kidney(1)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	8		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)	Ridogrel(DB01207)	GTATTGCACGGTGTAGCGACC	0.751													6	13					0	0	1	0	0	A	3600109	G	A	3600109	3	1	81	1	0	0	0	0	1	0	0	0	15723	1261	44	2	760	2	TBXA2R	19	3600109	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	73101	3600109	55528874	13125	16741											
PIP5K1C	23396	broad.mit.edu	37	19	3643317	3643317	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:3643317C>T	ENST00000335312.3	-	13	1661	c.1573G>A	c.(1573-1575)Gcc>Acc	p.A525T	PIP5K1C_ENST00000589578.1_Missense_Mutation_p.A525T|PIP5K1C_ENST00000537021.1_Missense_Mutation_p.A525T|PIP5K1C_ENST00000539785.1_Missense_Mutation_p.A525T	NM_001195733.1|NM_012398.2	NP_001182662.1|NP_036530.1	O60331	PI51C_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, gamma	525					axon guidance	cytosol|plasma membrane	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding			large_intestine(3)|ovary(1)|skin(3)|stomach(2)	9		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.95e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0026)|STAD - Stomach adenocarcinoma(1328;0.183)		AGAGTCGTGGCAATGGAGGCT	0.652													32	48					0	0	1	0	0	T	3643317	C	T	3643317	3	4	81	1	0	0	0	0	1	0	0	0	11989	710	25	2	457	2	PIP5K1C	19	3643317	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	43208	3643317	55485666	13126	16742											
TJP3	27134	broad.mit.edu	37	19	3728653	3728653	+	Translation_Start_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:3728653G>A	ENST00000539908.2	+	0	111				TJP3_ENST00000541714.2_Missense_Mutation_p.G34S|TJP3_ENST00000587686.1_Missense_Mutation_p.G53S|TJP3_ENST00000262968.9_Missense_Mutation_p.G53S|TJP3_ENST00000589378.1_Missense_Mutation_p.G43S|TJP3_ENST00000382008.3_Missense_Mutation_p.G34S			O95049	ZO3_HUMAN	tight junction protein 3							tight junction	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)		AGACCGGCCCGGTGGATCCAT	0.642													18	26					0	0	1	0	0	A	3728653	G	A	3728653	1	1	81	1	0	0	0	0	0	0	0	0	15991	1116	39	1		1	TJP3	19	3728653	Translation_Start_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	85336	3728653	55400330	13127	16743											
TJP3	27134	broad.mit.edu	37	19	3735606	3735606	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:3735606A>T	ENST00000541714.2	+	9	1491	c.1029A>T	c.(1027-1029)agA>agT	p.R343S	TJP3_ENST00000539908.2_Missense_Mutation_p.R307S|TJP3_ENST00000587686.1_Missense_Mutation_p.R362S|TJP3_ENST00000262968.9_Missense_Mutation_p.R376S|TJP3_ENST00000589378.1_Missense_Mutation_p.R352S|TJP3_ENST00000382008.3_Missense_Mutation_p.R357S	NM_001267560.1	NP_001254489.1	O95049	ZO3_HUMAN	tight junction protein 3	357						tight junction	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)		TAGATTCCAGAACCATCTCGG	0.557													6	115					0	0	1	0	0	T	3735606	A	T	3735606	3	4	81	1	0	0	0	0	1	0	0	0	15991	243	9	5	1158	5	TJP3	19	3735606	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	6953	3735606	55393377	13128	16744											
RAX2	84839	broad.mit.edu	37	19	3771688	3771688	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:3771688G>A	ENST00000555633.1	-	2	393	c.53C>T	c.(52-54)cCg>cTg	p.P18L	RAX2_ENST00000555978.1_Missense_Mutation_p.P18L			Q96IS3	RAX2_HUMAN	retina and anterior neural fold homeobox 2	18					response to stimulus|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)	1		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00463)|STAD - Stomach adenocarcinoma(1328;0.18)		CTCCTCGCCCGGCCCCAGACC	0.701													4	17					0	0	1	0	0	A	3771688	G	A	3771688	3	1	81	1	0	0	0	0	1	0	0	0	13149	1116	39	1	509	1	RAX2	19	3771688	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	36082	3771688	55357295	13129	16745											
MATK	4145	broad.mit.edu	37	19	3779617	3779617	+	Splice_Site	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:3779617T>C	ENST00000310132.6	-	10	1241		c.e10-2		MATK_ENST00000395045.2_Splice_Site|MATK_ENST00000585778.1_Splice_Site|MATK_ENST00000395040.2_Splice_Site	NM_139355.2	NP_647612.1	P42679	MATK_HUMAN	megakaryocyte-associated tyrosine 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)		TGCATCTTCCTGGGGGCGGTG	0.692													5	8					0	0	1	0	0	C	3779617	T	C	3779617	5	2	81	1	0	0	0	0	0	0	1	0	9382	1594	55	3	702	3	MATK	19	3779617	Splice_Site	SNP	T	TCGA-DU-6392-01A-11D-1705-08	7929	3779617	55349366	13130	16746											
ZFR2	23217	broad.mit.edu	37	19	3825226	3825226	+	Splice_Site	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:3825226A>G	ENST00000262961.4	-	7	1224		c.e7+1			NM_015174.1	NP_055989.1	Q9UPR6	ZFR2_HUMAN	zinc finger RNA binding protein 2							intracellular	nucleic acid binding|zinc ion binding			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(5)|pancreas(1)|prostate(1)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00514)|STAD - Stomach adenocarcinoma(1328;0.19)		AGACACACGTACCCTCGCATA	0.597													3	2					0	0	1	0	0	G	3825226	A	G	3825226	5	3	81	1	0	0	0	0	0	0	1	0	17718	405	14	3	1656	3	ZFR2	19	3825226	Splice_Site	SNP	A	TCGA-DU-6392-01A-11D-1705-08	45609	3825226	55303757	13131	16747											
DAPK3	1613	broad.mit.edu	37	19	3959164	3959164	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:3959164C>T	ENST00000545797.2	-	9	1543	c.1300G>A	c.(1300-1302)Gtg>Atg	p.V434M	DAPK3_ENST00000301264.3_Missense_Mutation_p.V434M			O43293	DAPK3_HUMAN	death-associated protein kinase 3	434	Interaction with CDC5L (By similarity).				apoptosis|chromatin modification|induction of apoptosis|intracellular protein kinase cascade	cytoplasm|PML body	ATP binding|leucine zipper domain binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(2)	21		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)		AGGTCCTGCACGAAGCGCATC	0.721													5	1					0	0	1	0	0	T	3959164	C	T	3959164	3	4	81	1	0	0	0	0	1	0	0	0	4261	536	19	1	68	1	DAPK3	19	3959164	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	133938	3959164	55169819	13132	16748											
DAPK3	1613	broad.mit.edu	37	19	3964909	3964909	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:3964909C>T	ENST00000545797.2	-	3	386	c.143G>A	c.(142-144)cGc>cAc	p.R48H	DAPK3_ENST00000301264.3_Missense_Mutation_p.R48H			O43293	DAPK3_HUMAN	death-associated protein kinase 3	48	Protein kinase.				apoptosis|chromatin modification|induction of apoptosis|intracellular protein kinase cascade	cytoplasm|PML body	ATP binding|leucine zipper domain binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(2)	21		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)		GGATGACAGGCGGCGCTTCTT	0.652													13	35					0	0	1	0	0	T	3964909	C	T	3964909	3	4	81	1	0	0	0	0	1	0	0	0	4261	768	27	1	1249	1	DAPK3	19	3964909	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	5745	3964909	55164074	13133	16749											
DAPK3	1613	broad.mit.edu	37	19	3964928	3964928	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:3964928T>C	ENST00000545797.2	-	3	367	c.124A>G	c.(124-126)Aag>Gag	p.K42E	DAPK3_ENST00000301264.3_Missense_Mutation_p.K42E			O43293	DAPK3_HUMAN	death-associated protein kinase 3	42	Protein kinase.				apoptosis|chromatin modification|induction of apoptosis|intracellular protein kinase cascade	cytoplasm|PML body	ATP binding|leucine zipper domain binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(2)	21		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)		TTGATGAACTTGGCTGCGTAC	0.667													8	40					0	0	1	0	0	C	3964928	T	C	3964928	3	2	81	1	0	0	0	0	1	0	0	0	4261	1821	63	3	1268	3	DAPK3	19	3964928	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	19	3964928	55164055	13134	16750											
EEF2	1938	broad.mit.edu	37	19	3980680	3980680	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:3980680G>T	ENST00000309311.6	-	9	1266	c.1178C>A	c.(1177-1179)cCt>cAt	p.P393H		NM_001961.3	NP_001952.1	P13639	EF2_HUMAN	eukaryotic translation elongation factor 2	393						cytosol|ribonucleoprotein complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity			endometrium(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|GBM - Glioblastoma multiforme(1328;0.0223)|STAD - Stomach adenocarcinoma(1328;0.18)		CATCATAAGAGGGCCTTTGGG	0.527													9	20					6.40141e-05	7.07494e-05	1	1	0	T	3980680	G	T	3980680	3	4	81	1	0	0	0	0	1	0	0	0	4955	1000	35	4	1426	4	EEF2	19	3980680	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	15752	3980680	55148303	13135	16751											
PIAS4	51588	broad.mit.edu	37	19	4033559	4033559	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:4033559G>A	ENST00000262971.2	+	9	1238	c.1123G>A	c.(1123-1125)Gac>Aac	p.D375N		NM_015897.2	NP_056981.2	Q8N2W9	PIAS4_HUMAN	protein inhibitor of activated STAT, 4	375					positive regulation of protein sumoylation|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|PML body	DNA binding|SUMO ligase activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(3)	17				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		AGCCCCCTACGACCAGCTCAT	0.677													4	4					0	0	1	0	0	A	4033559	G	A	4033559	3	1	81	1	0	0	0	0	1	0	0	0	11926	1058	37	1	1157	1	PIAS4	19	4033559	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	52879	4033559	55095424	13136	16752											
ZBTB7A	51341	broad.mit.edu	37	19	4054026	4054026	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:4054026C>T	ENST00000322357.4	-	2	1483	c.1205G>A	c.(1204-1206)cGc>cAc	p.R402H	ZBTB7A_ENST00000601588.1_Missense_Mutation_p.R402H	NM_015898.2	NP_056982.1	O95365	ZBT7A_HUMAN	zinc finger and BTB domain containing 7A	402					cell differentiation|multicellular organismal development|transcription, DNA-dependent	nucleus	DNA binding|histone acetyltransferase binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	14		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.014)|STAD - Stomach adenocarcinoma(1328;0.18)		CGTGTGGGTGCGGATGTGTCG	0.657													17	31					0	0	1	0	0	T	4054026	C	T	4054026	3	4	81	1	0	0	0	0	1	0	0	0	17612	768	27	1	557	1	ZBTB7A	19	4054026	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	20467	4054026	55074957	13137	16753											
ZBTB7A	51341	broad.mit.edu	37	19	4054046	4054046	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:4054046G>A	ENST00000322357.4	-	2	1463	c.1185C>T	c.(1183-1185)ggC>ggT	p.G395G	ZBTB7A_ENST00000601588.1_Silent_p.G395G	NM_015898.2	NP_056982.1	O95365	ZBT7A_HUMAN	zinc finger and BTB domain containing 7A	395					cell differentiation|multicellular organismal development|transcription, DNA-dependent	nucleus	DNA binding|histone acetyltransferase binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	14		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.014)|STAD - Stomach adenocarcinoma(1328;0.18)		GCGGCAGCTTGCCGGCGCCCT	0.657													6	38					0	0	1	0	0	A	4054046	G	A	4054046	2	1	81	1	0	0	0	0	0	0	0	1	17612	1306	46	2		2	ZBTB7A	19	4054046	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	20	4054046	55074937	13138	16754											
ZBTB7A	51341	broad.mit.edu	37	19	4054174	4054174	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:4054174G>T	ENST00000322357.4	-	2	1335	c.1057C>A	c.(1057-1059)Ctg>Atg	p.L353M	ZBTB7A_ENST00000601588.1_Missense_Mutation_p.L353M	NM_015898.2	NP_056982.1	O95365	ZBT7A_HUMAN	zinc finger and BTB domain containing 7A	353					cell differentiation|multicellular organismal development|transcription, DNA-dependent	nucleus	DNA binding|histone acetyltransferase binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	14		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.014)|STAD - Stomach adenocarcinoma(1328;0.18)		AAGTACTTCAGGTAGTAGTCC	0.667													16	34					6.49762e-13	8.15126e-13	1	1	0	T	4054174	G	T	4054174	3	4	81	1	0	0	0	0	1	0	0	0	17612	991	35	4	705	4	ZBTB7A	19	4054174	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	128	4054174	55074809	13139	16755											
MAP2K2	5605	broad.mit.edu	37	19	4110573	4110573	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:4110573C>T	ENST00000262948.5	-	3	637	c.384G>A	c.(382-384)ccG>ccA	p.P128P	MAP2K2_ENST00000394867.4_Silent_p.P31P|MAP2K2_ENST00000599345.1_5'UTR	NM_030662.3	NP_109587.1	P36507	MP2K2_HUMAN	mitogen-activated protein kinase kinase 2	128	Protein kinase.				activation of MAPK activity|activation of MAPKK activity|axon guidance|epidermal growth factor receptor signaling pathway|ERK1 and ERK2 cascade|innate immune response|insulin receptor signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|extracellular region	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity						Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		CCACGATGTACGGCGAGTTGC	0.622													19	23					0	0	1	0	0	T	4110573	C	T	4110573	2	4	81	1	0	0	0	0	0	0	0	1	9287	523	19	1		1	MAP2K2	19	4110573	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	56399	4110573	55018410	13140	16756											
MAP2K2	5605	broad.mit.edu	37	19	4117563	4117563	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:4117563G>A	ENST00000262948.5	-	2	410	c.157C>T	c.(157-159)Cgg>Tgg	p.R53W	MAP2K2_ENST00000394867.4_5'UTR|MAP2K2_ENST00000599345.1_5'UTR	NM_030662.3	NP_109587.1	P36507	MP2K2_HUMAN	mitogen-activated protein kinase kinase 2	53					activation of MAPK activity|activation of MAPKK activity|axon guidance|epidermal growth factor receptor signaling pathway|ERK1 and ERK2 cascade|innate immune response|insulin receptor signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|extracellular region	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity						Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		GCTTCCAGCCGCTTCTTCTGC	0.592													30	43					0	0	1	0	0	A	4117563	G	A	4117563	3	1	81	1	0	0	0	0	1	0	0	0	9287	1086	38	1	1085	1	MAP2K2	19	4117563	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	6990	4117563	55011420	13141	16757											
FSD1	79187	broad.mit.edu	37	19	4323207	4323207	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:4323207C>A	ENST00000221856.6	+	11	1411	c.1264C>A	c.(1264-1266)Ctg>Atg	p.L422M	FSD1_ENST00000597590.1_Intron	NM_024333.2	NP_077309.1	Q9BTV5	FSD1_HUMAN	fibronectin type III and SPRY domain containing 1	422	B30.2/SPRY.				cell division|mitosis	cleavage furrow|microtubule|microtubule organizing center|nucleus				breast(2)|cervix(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.034)|STAD - Stomach adenocarcinoma(1328;0.18)		GCCCGACTGCCTGGGTGTGCA	0.657													30	45					3.57733e-08	4.23862e-08	1	1	0	A	4323207	C	A	4323207	3	1	81	1	0	0	0	0	1	0	0	0	6105	680	24	4	1306	4	FSD1	19	4323207	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	205644	4323207	54805776	13142	16758											
STAP2	55620	broad.mit.edu	37	19	4325454	4325454	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:4325454C>A	ENST00000600324.1	-	10	985	c.918G>T	c.(916-918)caG>caT	p.Q306H	STAP2_ENST00000597593.1_5'UTR|STAP2_ENST00000594605.1_Missense_Mutation_p.Q306H	NM_017720.2	NP_060190.2	Q9UGK3	STAP2_HUMAN	signal transducing adaptor family member 2	306	Pro-rich.					cytoplasm|nucleus	protein binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0339)|STAD - Stomach adenocarcinoma(1328;0.18)		AGTTCTCTTCCTGGTTCGGTA	0.612													31	83					4.32679e-17	5.57264e-17	1	1	0	A	4325454	C	A	4325454	3	1	81	1	0	0	0	0	1	0	0	0	15309	680	24	4	447	4	STAP2	19	4325454	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2247	4325454	54803529	13143	16759											
STAP2	55620	broad.mit.edu	37	19	4332028	4332028	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:4332028C>T	ENST00000600324.1	-	4	412	c.345G>A	c.(343-345)acG>acA	p.T115T	STAP2_ENST00000594605.1_Silent_p.T115T	NM_017720.2	NP_060190.2	Q9UGK3	STAP2_HUMAN	signal transducing adaptor family member 2	115	PH.					cytoplasm|nucleus	protein binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0339)|STAD - Stomach adenocarcinoma(1328;0.18)		CCTCCACCACCGTTAAGATGA	0.453													13	35					0	0	1	0	0	T	4332028	C	T	4332028	2	4	81	1	0	0	0	0	0	0	0	1	15309	639	23	1		1	STAP2	19	4332028	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	6574	4332028	54796955	13144	16760											
MPND	84954	broad.mit.edu	37	19	4352926	4352926	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:4352926G>A	ENST00000599840.1	+	4	599	c.564G>A	c.(562-564)ttG>ttA	p.L188L	MPND_ENST00000359935.4_Silent_p.L188L|AC007292.4_ENST00000594776.1_RNA|MPND_ENST00000262966.8_Silent_p.L188L			Q8N594	MPND_HUMAN	MPN domain containing	188							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)		aggaggagttgctgatggaag	0.652													8	24					0	0	1	0	0	A	4352926	G	A	4352926	2	1	81	1	0	0	0	0	0	0	0	1	9780	1310	46	2		2	MPND	19	4352926	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	20898	4352926	54776057	13145	16761											
CHAF1A	10036	broad.mit.edu	37	19	4418033	4418033	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:4418033T>C	ENST00000301280.5	+	4	1078	c.977T>C	c.(976-978)gTc>gCc	p.V326A		NM_005483.2	NP_005474	Q13111	CAF1A_HUMAN	chromatin assembly factor 1, subunit A (p150)	326	Arg/Glu/Lys-rich.				cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|WINAC complex	chromatin binding|chromo shadow domain binding|unfolded protein binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	27		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		AAGAAATTCGTCAAAGGCTCT	0.348								Chromatin Structure					4	65					0	0	1	0	0	C	4418033	T	C	4418033	3	2	81	1	0	0	0	0	1	0	0	0	3333	1667	58	3	991	3	CHAF1A	19	4418033	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	65107	4418033	54710950	13146	16762											
CHAF1A	10036	broad.mit.edu	37	19	4429437	4429437	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:4429437A>G	ENST00000301280.5	+	9	1708	c.1607A>G	c.(1606-1608)gAt>gGt	p.D536G		NM_005483.2	NP_005474	Q13111	CAF1A_HUMAN	chromatin assembly factor 1, subunit A (p150)	536					cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|WINAC complex	chromatin binding|chromo shadow domain binding|unfolded protein binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	27		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		CTTCTCAGTGATGTCGTCATC	0.572								Chromatin Structure					13	31					0	0	1	0	0	G	4429437	A	G	4429437	3	3	81	1	0	0	0	0	1	0	0	0	3333	333	12	3	1641	3	CHAF1A	19	4429437	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	11404	4429437	54699546	13147	16763											
CHAF1A	10036	broad.mit.edu	37	19	4430615	4430615	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:4430615T>C	ENST00000301280.5	+	11	2025	c.1924T>C	c.(1924-1926)Tct>Cct	p.S642P	CTB-50L17.5_ENST00000590159.1_RNA	NM_005483.2	NP_005474	Q13111	CAF1A_HUMAN	chromatin assembly factor 1, subunit A (p150)	642	Necessary for homodimerization and competence for chromatin assembly.				cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|WINAC complex	chromatin binding|chromo shadow domain binding|unfolded protein binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	27		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		TGGGTACCTGTCTGAGGACGA	0.507								Chromatin Structure					4	59					0	0	1	0	0	C	4430615	T	C	4430615	3	2	81	1	0	0	0	0	1	0	0	0	3333	1667	58	3	1966	3	CHAF1A	19	4430615	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	1178	4430615	54698368	13148	16764											
CHAF1A	10036	broad.mit.edu	37	19	4432086	4432086	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:4432086C>A	ENST00000301280.5	+	12	2186	c.2085C>A	c.(2083-2085)gaC>gaA	p.D695E	CHAF1A_ENST00000587368.1_3'UTR	NM_005483.2	NP_005474	Q13111	CAF1A_HUMAN	chromatin assembly factor 1, subunit A (p150)	695	Binds to p60.				cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|WINAC complex	chromatin binding|chromo shadow domain binding|unfolded protein binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	27		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		CTGACAGAGACTGCGCAGGCG	0.637								Chromatin Structure					5	50					0.184627	0.18622	1	1	0	A	4432086	C	A	4432086	3	1	81	1	0	0	0	0	1	0	0	0	3333	564	20	4	2131	4	CHAF1A	19	4432086	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1471	4432086	54696897	13149	16765											
UBXN6	80700	broad.mit.edu	37	19	4452490	4452490	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:4452490C>A	ENST00000301281.6	-	4	437		c.e4-1		UBXN6_ENST00000394765.3_Splice_Site	NM_025241.2	NP_079517.1	Q9BZV1	UBXN6_HUMAN	UBX domain protein 6							microtubule organizing center|nucleus	protein binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	12						GCTCAGATACCTGGGGCGGTG	0.647													6	10					0.00198382	0.00209725	1	1	0	A	4452490	C	A	4452490	5	1	81	1	0	0	0	0	0	0	1	0	16977	695	24	4	1045	4	UBXN6	19	4452490	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	20404	4452490	54676493	13150	16766											
HDGFRP2	84717	broad.mit.edu	37	19	4491791	4491791	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:4491791C>T	ENST00000301284.4	+	6	701	c.637C>T	c.(637-639)Cgg>Tgg	p.R213W	HDGFRP2_ENST00000586684.1_Missense_Mutation_p.R213W	NM_001001520.1|NM_032631.2	NP_001001520|NP_116020.1	Q7Z4V5	HDGR2_HUMAN		213	Ser-rich.				transcription, DNA-dependent	nucleus	DNA binding|protein binding										AGCAGCGGTCCGGGCGCCACG	0.627													45	39					0	0	1	0	0	T	4491791	C	T	4491791	3	4	81	1	0	0	0	0	1	0	0	0	7061	643	23	1	659	1	HDGFRP2	19	4491791	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	39301	4491791	54637192	13151	16767											
HDGFRP2	84717	broad.mit.edu	37	19	4499514	4499514	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:4499514C>T	ENST00000301284.4	+	14	1666	c.1602C>T	c.(1600-1602)gaC>gaT	p.D534D	HDGFRP2_ENST00000586684.1_Silent_p.D534D	NM_001001520.1|NM_032631.2	NP_001001520|NP_116020.1	Q7Z4V5	HDGR2_HUMAN		534					transcription, DNA-dependent	nucleus	DNA binding|protein binding										CGAACAAGGACGTAATGGAGA	0.602													9	7					0	0	1	0	0	T	4499514	C	T	4499514	2	4	81	1	0	0	0	0	0	0	0	1	7061	535	19	1		1	HDGFRP2	19	4499514	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	7723	4499514	54629469	13152	16768											
HDGFRP2	84717	broad.mit.edu	37	19	4499545	4499545	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:4499545C>T	ENST00000301284.4	+	14	1697	c.1633C>T	c.(1633-1635)Cgg>Tgg	p.R545W	HDGFRP2_ENST00000586684.1_Missense_Mutation_p.R545W	NM_001001520.1|NM_032631.2	NP_001001520|NP_116020.1	Q7Z4V5	HDGR2_HUMAN		545					transcription, DNA-dependent	nucleus	DNA binding|protein binding										AGTCTATACCCGGCTCAAGTC	0.592													3	12					0	0	1	0	0	T	4499545	C	T	4499545	3	4	81	1	0	0	0	0	1	0	0	0	7061	643	23	1	1687	1	HDGFRP2	19	4499545	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	31	4499545	54629438	13153	16769											
PLIN4	729359	broad.mit.edu	37	19	4510834	4510834	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:4510834G>A	ENST00000301286.3	-	3	3095	c.3096C>T	c.(3094-3096)caC>caT	p.H1032H		NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4	1032						lipid particle|plasma membrane				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						TGAGGCCAGTGTGGGTGGCCC	0.632													11	68					0	0	1	0	0	A	4510834	G	A	4510834	2	1	81	1	0	0	0	0	0	0	0	1	12140	1368	48	2		2	PLIN4	19	4510834	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	11289	4510834	54618149	13154	16770											
PLIN4	729359	broad.mit.edu	37	19	4510998	4510998	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:4510998C>T	ENST00000301286.3	-	3	2931	c.2932G>A	c.(2932-2934)Ggt>Agt	p.G978S		NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4	978	27 X 33 AA approximate tandem repeat.					lipid particle|plasma membrane				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						TCCTTGGTACCCATAAGCACA	0.617													10	19					0	0	1	0	0	T	4510998	C	T	4510998	3	4	81	1	0	0	0	0	1	0	0	0	12140	623	22	2	1157	2	PLIN4	19	4510998	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	164	4510998	54617985	13155	16771											
PLIN4	729359	broad.mit.edu	37	19	4512219	4512219	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:4512219T>G	ENST00000301286.3	-	3	1710	c.1711A>C	c.(1711-1713)Aca>Cca	p.T571P		NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4	571	27 X 33 AA approximate tandem repeat.					lipid particle|plasma membrane				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						TCTACACCTGTCTGGACAGCC	0.612													13	166					0	0	1	0	0	G	4512219	T	G	4512219	3	3	81	1	0	0	0	0	1	0	0	0	12140	1667	58	5	2378	5	PLIN4	19	4512219	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	1221	4512219	54616764	13156	16772											
PLIN4	729359	broad.mit.edu	37	19	4513206	4513206	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:4513206C>T	ENST00000301286.3	-	3	723	c.724G>A	c.(724-726)Ggt>Agt	p.G242S		NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4	242	27 X 33 AA approximate tandem repeat.					lipid particle|plasma membrane		p.G170S(1)|p.G242S(1)		NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						GTGTCCACACCGGTCTGAATG	0.572													11	110					0	0	1	0	0	T	4513206	C	T	4513206	3	4	81	1	0	0	0	0	1	0	0	0	12140	652	23	1	3365	1	PLIN4	19	4513206	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	987	4513206	54615777	13157	16773											
LRG1	116844	broad.mit.edu	37	19	4538043	4538043	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:4538043T>C	ENST00000306390.6	-	2	1413	c.953A>G	c.(952-954)aAa>aGa	p.K318R	CTB-50L17.14_ENST00000586020.1_Intron	NM_052972.2	NP_443204.1	P02750	A2GL_HUMAN	leucine-rich alpha-2-glycoprotein 1	318	LRRCT.					extracellular region|membrane				NS(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		CATCTTGTCTTTTTGGGCCTG	0.592													4	53					0	0	1	0	0	C	4538043	T	C	4538043	3	2	81	1	0	0	0	0	1	0	0	0	8987	1841	64	3	94	3	LRG1	19	4538043	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	24837	4538043	54590940	13158	16774											
SEMA6B	10501	broad.mit.edu	37	19	4550817	4550817	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:4550817C>T	ENST00000586582.1	-	11	1425	c.1115G>A	c.(1114-1116)cGa>cAa	p.R372Q	SEMA6B_ENST00000586965.1_Missense_Mutation_p.R372Q|SEMA6B_ENST00000301293.3_Missense_Mutation_p.R372Q	NM_032108.3	NP_115484.2	Q9H3T3	SEM6B_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6B	372	Sema.				cell differentiation|nervous system development	integral to membrane	receptor activity			breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		TCACCGGGGTCGAGGCACCTG	0.627													19	30					0	0	1	0	0	T	4550817	C	T	4550817	3	4	81	1	0	0	0	0	1	0	0	0	14094	884	31	1	1579	1	SEMA6B	19	4550817	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	12774	4550817	54578166	13159	16775											
DPP9	91039	broad.mit.edu	37	19	4682774	4682774	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:4682774G>T	ENST00000262960.9	-	20	2685	c.2408C>A	c.(2407-2409)cCt>cAt	p.P803H	DPP9_ENST00000598800.1_Missense_Mutation_p.P774H|AC005594.3_ENST00000381796.1_RNA|DPP9_ENST00000594671.1_Missense_Mutation_p.P774H	NM_139159.4	NP_631898.3	Q86TI2	DPP9_HUMAN	dipeptidyl-peptidase 9	774					proteolysis	cytosol|membrane	aminopeptidase activity|serine-type peptidase activity			cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00884)		GTTGTTCTCAGGGACGTCCAT	0.647													4	5					0.00909568	0.00944708	1	1	0	T	4682774	G	T	4682774	3	4	81	1	0	0	0	0	1	0	0	0	4759	1000	35	4	282	4	DPP9	19	4682774	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	131957	4682774	54446209	13160	16776											
DPP9	91039	broad.mit.edu	37	19	4697661	4697661	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:4697661G>A	ENST00000262960.9	-	11	1354	c.1077C>T	c.(1075-1077)atC>atT	p.I359I	DPP9_ENST00000598800.1_Silent_p.I330I|DPP9_ENST00000597849.1_Silent_p.I359I|DPP9_ENST00000594671.1_Silent_p.I330I	NM_139159.4	NP_631898.3	Q86TI2	DPP9_HUMAN	dipeptidyl-peptidase 9	330					proteolysis	cytosol|membrane	aminopeptidase activity|serine-type peptidase activity			cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00884)		GGGTCGAGACGATCTGAAGGG	0.632													8	16					0	0	1	0	0	A	4697661	G	A	4697661	2	1	81	1	0	0	0	0	0	0	0	1	4759	1048	37	1		1	DPP9	19	4697661	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	14887	4697661	54431322	13161	16777											
DPP9	91039	broad.mit.edu	37	19	4714097	4714097	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:4714097G>A	ENST00000262960.9	-	4	586	c.309C>T	c.(307-309)taC>taT	p.Y103Y	DPP9_ENST00000598800.1_Silent_p.Y74Y|DPP9_ENST00000597849.1_Silent_p.Y103Y|DPP9_ENST00000594671.1_Silent_p.Y74Y	NM_139159.4	NP_631898.3	Q86TI2	DPP9_HUMAN	dipeptidyl-peptidase 9	74					proteolysis	cytosol|membrane	aminopeptidase activity|serine-type peptidase activity			cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00884)		GCTTACCCAGGTAGTAGAGGC	0.622													4	2					0	0	1	0	0	A	4714097	G	A	4714097	2	1	81	1	0	0	0	0	0	0	0	1	4759	1256	44	2		2	DPP9	19	4714097	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	16436	4714097	54414886	13162	16778											
ARRDC5	645432	broad.mit.edu	37	19	4891208	4891208	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:4891208G>A	ENST00000381781.2	-	3	878	c.879C>T	c.(877-879)taC>taT	p.Y293Y		NM_001080523.1	NP_001073992.1	A6NEK1	ARRD5_HUMAN	arrestin domain containing 5	293					signal transduction					endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0257)		TGACCAGCTCGTAGCGAGTGT	0.607													65	91					0	0	1	0	0	A	4891208	G	A	4891208	2	1	81	1	0	0	0	0	0	0	0	1	985	1140	40	1		1	ARRDC5	19	4891208	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	177111	4891208	54237775	13163	16779											
KDM4B	23030	broad.mit.edu	37	19	5032937	5032937	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:5032937C>A	ENST00000159111.4	+	3	254	c.36C>A	c.(34-36)agC>agA	p.S12R	KDM4B_ENST00000536461.1_Missense_Mutation_p.S12R|KDM4B_ENST00000381759.4_Missense_Mutation_p.S12R	NM_015015.2	NP_055830	O94953	KDM4B_HUMAN	lysine (K)-specific demethylase 4B	12					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(1)|liver(1)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						AGAACCCCAGCTGTAAAATCA	0.592													10	134					9.70103e-10	1.17698e-09	1	1	0	A	5032937	C	A	5032937	3	1	81	1	0	0	0	0	1	0	0	0	8173	796	28	4	38	4	KDM4B	19	5032937	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	141729	5032937	54096046	13164	16780											
PTPRS	5802	broad.mit.edu	37	19	5210574	5210574	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:5210574C>T	ENST00000372412.4	-	35	5629	c.5396G>A	c.(5395-5397)cGc>cAc	p.R1799H	PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000357368.4_Missense_Mutation_p.R1798H|PTPRS_ENST00000262963.6_Missense_Mutation_p.R1778H|PTPRS_ENST00000587303.1_Missense_Mutation_p.R1798H|PTPRS_ENST00000353284.2_Missense_Mutation_p.R1351H|PTPRS_ENST00000348075.2_Missense_Mutation_p.R1760H|PTPRS_ENST00000592099.1_Missense_Mutation_p.R1351H|PTPRS_ENST00000588012.1_Missense_Mutation_p.R1760H			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	1798	Tyrosine-protein phosphatase 2.				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)		GCGGGCAGAGCGCTCGGCCGG	0.597													8	39					0	0	1	0	0	T	5210574	C	T	5210574	3	4	81	1	0	0	0	0	1	0	0	0	12863	768	27	1	469	1	PTPRS	19	5210574	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	177637	5210574	53918409	13165	16781											
PTPRS	5802	broad.mit.edu	37	19	5240339	5240339	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:5240339C>T	ENST00000372412.4	-	12	1811	c.1578G>A	c.(1576-1578)ccG>ccA	p.P526P	PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000357368.4_Silent_p.P525P|PTPRS_ENST00000262963.6_Silent_p.P521P|PTPRS_ENST00000587303.1_Silent_p.P525P|PTPRS_ENST00000353284.2_Silent_p.P512P|PTPRS_ENST00000348075.2_Silent_p.P512P|PTPRS_ENST00000592099.1_Silent_p.P512P|PTPRS_ENST00000588012.1_Silent_p.P512P			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	525	Fibronectin type-III 3.				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)		TGGGCTGGCCCGGCACTGTGG	0.657													4	13					0	0	1	0	0	T	5240339	C	T	5240339	2	4	81	1	0	0	0	0	0	0	0	1	12863	639	23	1		1	PTPRS	19	5240339	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	29765	5240339	53888644	13166	16782											
SAFB2	9667	broad.mit.edu	37	19	5590372	5590372	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:5590372G>A	ENST00000252542.4	-	18	2706	c.2442C>T	c.(2440-2442)caC>caT	p.H814H		NM_014649.2	NP_055464.1	Q14151	SAFB2_HUMAN	scaffold attachment factor B2	814	Gly-rich.|Interacts with SAFB1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|nucleotide binding|protein binding|RNA binding			endometrium(3)|kidney(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				UCEC - Uterine corpus endometrioid carcinoma (162;0.000228)		AGTCCCGGCCGTGGCGCTCTG	0.677													6	19					0	0	1	0	0	A	5590372	G	A	5590372	2	1	81	1	0	0	0	0	0	0	0	1	13859	1136	40	1		1	SAFB2	19	5590372	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	350033	5590372	53538611	13167	16783											
RPL36	25873	broad.mit.edu	37	19	5691360	5691360	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:5691360G>A	ENST00000577222.1	+	5	668	c.124G>A	c.(124-126)Gac>Aac	p.D42N	RPL36_ENST00000579649.1_Missense_Mutation_p.D42N|RPL36_ENST00000579446.1_Missense_Mutation_p.D42N|RPL36_ENST00000394580.2_Missense_Mutation_p.D42N|RPL36_ENST00000347512.3_Missense_Mutation_p.D42N			Q9Y3U8	RL36_HUMAN	ribosomal protein L36	42					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	protein binding|structural constituent of ribosome			breast(1)|upper_aerodigestive_tract(1)	2						GTTCGTGCGGGACATGATTCG	0.577											OREG0025183	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	24	53					0	0	1	0	0	A	5691360	G	A	5691360	3	1	81	1	0	0	0	0	1	0	0	0	13638	1174	41	2	130	2	RPL36	19	5691360	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	100988	5691360	53437623	13168	16784											
LONP1	9361	broad.mit.edu	37	19	5700874	5700874	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:5700874G>T	ENST00000360614.3	-	9	1589	c.1432C>A	c.(1432-1434)Ctg>Atg	p.L478M	LONP1_ENST00000593119.1_Missense_Mutation_p.L414M|LONP1_ENST00000540670.2_Missense_Mutation_p.L282M|LONP1_ENST00000590729.1_Missense_Mutation_p.L348M|LONP1_ENST00000585374.1_Missense_Mutation_p.L364M	NM_004793.2	NP_004784.2	P36776	LONM_HUMAN	lon peptidase 1, mitochondrial	478					cellular chaperone-mediated protein complex assembly|cellular response to oxidative stress|misfolded or incompletely synthesized protein catabolic process|mitochondrial DNA metabolic process|oxidation-dependent protein catabolic process|protein homooligomerization|response to hypoxia	mitochondrial nucleoid	ADP binding|ATP binding|ATP-dependent peptidase activity|DNA polymerase binding|G-quadruplex DNA binding|mitochondrial heavy strand promoter anti-sense binding|mitochondrial light strand promoter anti-sense binding|sequence-specific DNA binding|serine-type endopeptidase activity|single-stranded DNA binding|single-stranded RNA binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GCCAGGTCCAGGTTCTCGTTG	0.602													10	96					7.48243e-07	8.64403e-07	1	1	0	T	5700874	G	T	5700874	3	4	81	1	0	0	0	0	1	0	0	0	8937	991	35	4	1487	4	LONP1	19	5700874	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	9514	5700874	53428109	13169	16785	80	2									
LONP1	9361	broad.mit.edu	37	19	5700881	5700881	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:5700881G>A	ENST00000360614.3	-	9	1582	c.1425C>T	c.(1423-1425)aaC>aaT	p.N475N	LONP1_ENST00000593119.1_Silent_p.N411N|LONP1_ENST00000540670.2_Silent_p.N279N|LONP1_ENST00000590729.1_Silent_p.N345N|LONP1_ENST00000585374.1_Silent_p.N361N	NM_004793.2	NP_004784.2	P36776	LONM_HUMAN	lon peptidase 1, mitochondrial	475					cellular chaperone-mediated protein complex assembly|cellular response to oxidative stress|misfolded or incompletely synthesized protein catabolic process|mitochondrial DNA metabolic process|oxidation-dependent protein catabolic process|protein homooligomerization|response to hypoxia	mitochondrial nucleoid	ADP binding|ATP binding|ATP-dependent peptidase activity|DNA polymerase binding|G-quadruplex DNA binding|mitochondrial heavy strand promoter anti-sense binding|mitochondrial light strand promoter anti-sense binding|sequence-specific DNA binding|serine-type endopeptidase activity|single-stranded DNA binding|single-stranded RNA binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CCAGGTTCTCGTTGCTGTACT	0.607													39	70					0	0	1	0	0	A	5700881	G	A	5700881	2	1	81	1	0	0	0	0	0	0	0	1	8937	1136	40	1		1	LONP1	19	5700881	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	7	5700881	53428102	13170	16786	80	2									
PRR22	163154	broad.mit.edu	37	19	5783234	5783234	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:5783234C>T	ENST00000419421.2	-	3	1128	c.1024G>A	c.(1024-1026)Gtg>Atg	p.V342M		NM_001134316.1	NP_001127788.1	Q8IZ63	PRR22_HUMAN	proline rich 22	340										endometrium(2)|large_intestine(1)|prostate(1)|urinary_tract(1)	5						ATCTCAGGCACGCTGTAGTCA	0.647													28	45					0	0	1	0	0	T	5783234	C	T	5783234	3	4	81	1	0	0	0	0	1	0	0	0	12645	536	19	1	248	1	PRR22	19	5783234	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	82353	5783234	53345749	13171	16787											
DUS3L	56931	broad.mit.edu	37	19	5788144	5788144	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:5788144G>A	ENST00000309061.7	-	5	1082	c.986C>T	c.(985-987)gCg>gTg	p.A329V	DUS3L_ENST00000320699.8_Missense_Mutation_p.A87V	NM_020175.2	NP_064560.2	Q96G46	DUS3L_HUMAN	dihydrouridine synthase 3-like (S. cerevisiae)	329					tRNA processing		flavin adenine dinucleotide binding|nucleic acid binding|tRNA dihydrouridine synthase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(2)	14						TGTCACATCCGCCCCGAAGCG	0.607													14	23					0	0	1	0	0	A	5788144	G	A	5788144	3	1	81	1	0	0	0	0	1	0	0	0	4833	1087	38	1	1002	1	DUS3L	19	5788144	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	4910	5788144	53340839	13172	16788											
FUT6	2528	broad.mit.edu	37	19	5832132	5832132	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:5832132G>A	ENST00000318336.4	-	3	1641	c.447C>T	c.(445-447)gaC>gaT	p.D149D	FUT6_ENST00000524754.1_Silent_p.D149D|FUT6_ENST00000286955.5_Silent_p.D149D|FUT6_ENST00000527106.1_Silent_p.D149D|FUT6_ENST00000592563.1_Silent_p.D149D	NM_000150.2	NP_000141.1	P51993	FUT6_HUMAN	fucosyltransferase 6 (alpha (1,3) fucosyltransferase)	149					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity|alpha(1,3)-fucosyltransferase activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(2)	6						TGAAGTATCCGTCCATGGCTT	0.657													16	25					0	0	1	0	0	A	5832132	G	A	5832132	2	1	81	1	0	0	0	0	0	0	0	1	6143	1136	40	1		1	FUT6	19	5832132	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	43988	5832132	53296851	13173	16789											
FUT6	2528	broad.mit.edu	37	19	5832296	5832296	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:5832296C>T	ENST00000318336.4	-	3	1477	c.283G>A	c.(283-285)Gac>Aac	p.D95N	FUT6_ENST00000524754.1_Missense_Mutation_p.D95N|FUT6_ENST00000286955.5_Missense_Mutation_p.D95N|FUT6_ENST00000527106.1_Missense_Mutation_p.D95N|FUT6_ENST00000592563.1_Missense_Mutation_p.D95N	NM_000150.2	NP_000141.1	P51993	FUT6_HUMAN	fucosyltransferase 6 (alpha (1,3) fucosyltransferase)	95					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity|alpha(1,3)-fucosyltransferase activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(2)	6						ACCTTGCGGTCGGCAGTGATG	0.632													27	41					0	0	1	0	0	T	5832296	C	T	5832296	3	4	81	1	0	0	0	0	1	0	0	0	6143	884	31	1	800	1	FUT6	19	5832296	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	164	5832296	53296687	13174	16790											
FUT5	2527	broad.mit.edu	37	19	5867076	5867076	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:5867076G>A	ENST00000252675.5	-	5	1223	c.661C>T	c.(661-663)Cgc>Tgc	p.R221C	FUT5_ENST00000588525.1_Missense_Mutation_p.R221C			Q11128	FUT5_HUMAN	fucosyltransferase 5 (alpha (1,3) fucosyltransferase)	221					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity|alpha(1,3)-fucosyltransferase activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	12						TGGTAGTAGCGCACCCTGGCC	0.667													15	25					0	0	1	0	0	A	5867076	G	A	5867076	3	1	81	1	0	0	0	0	1	0	0	0	6142	1087	38	1	467	1	FUT5	19	5867076	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	34780	5867076	53261907	13175	16791											
RANBP3	8498	broad.mit.edu	37	19	5923913	5923914	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:5923913_5923914insT	ENST00000340578.6	-	12	1065_1066	c.1008_1009insA	c.(1006-1011)aaattafs	p.L337fs	RANBP3_ENST00000591092.1_Frame_Shift_Ins_p.L264fs|RANBP3_ENST00000034275.8_Frame_Shift_Ins_p.L269fs|RANBP3_ENST00000439268.2_Frame_Shift_Ins_p.L332fs|RANBP3_ENST00000541471.1_Frame_Shift_Ins_p.L209fs	NM_003624.2|NM_007320.2|NM_007322.2	NP_003615.2|NP_015559.2|NP_015561.1	Q9H6Z4	RANB3_HUMAN	RAN binding protein 3	337					intracellular transport|protein transport	cytoplasm|nucleus	Ran GTPase binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	18						ACCTCGTTTAATTTTGGGGGGC	0.559													9	24	---	---	---	---						T	5923914	-	T	5923913	7	5	81	1	0	1	1	0	0	0	0	0	13081	98	4	0	718	0	RANBP3	19	5923913	Frame_Shift_Ins	INS	-	TCGA-DU-6392-01A-11D-1705-08	56837	5923913	53205070	13176	16792											
RFX2	5990	broad.mit.edu	37	19	5994951	5994951	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:5994951G>A	ENST00000303657.5	-	18	2216	c.2067C>T	c.(2065-2067)ggC>ggT	p.G689G	RFX2_ENST00000359161.3_Silent_p.G689G|CTC-232P5.1_ENST00000587836.1_RNA|RFX2_ENST00000592546.1_Silent_p.G664G	NM_000635.3	NP_000626.2	P48378	RFX2_HUMAN	regulatory factor X, 2 (influences HLA class II expression)	689					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						GCTGCTCATCGCCCATGTCAT	0.662													21	11					0	0	1	0	0	A	5994951	G	A	5994951	2	1	81	1	0	0	0	0	0	0	0	1	13315	1074	38	1		1	RFX2	19	5994951	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	71038	5994951	53134032	13177	16793											
RFX2	5990	broad.mit.edu	37	19	6004263	6004263	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:6004263G>A	ENST00000303657.5	-	13	1598	c.1449C>T	c.(1447-1449)ggC>ggT	p.G483G	RFX2_ENST00000359161.3_Silent_p.G483G|CTC-232P5.1_ENST00000587836.1_RNA|RFX2_ENST00000592546.1_Silent_p.G458G	NM_000635.3	NP_000626.2	P48378	RFX2_HUMAN	regulatory factor X, 2 (influences HLA class II expression)	483					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						TTGTCAACCAGCCTTCCAAGC	0.577													50	58					0	0	1	0	0	A	6004263	G	A	6004263	2	1	81	1	0	0	0	0	0	0	0	1	13315	958	34	2		2	RFX2	19	6004263	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	9312	6004263	53124720	13178	16794											
ACSBG2	81616	broad.mit.edu	37	19	6147597	6147597	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:6147597C>A	ENST00000588304.1	+	3	504	c.58C>A	c.(58-60)Ctc>Atc	p.L20I	ACSBG2_ENST00000588485.1_5'UTR|ACSBG2_ENST00000252669.5_Missense_Mutation_p.L70I|ACSBG2_ENST00000586696.1_Missense_Mutation_p.L70I|ACSBG2_ENST00000591403.1_Missense_Mutation_p.L70I			Q5FVE4	ACBG2_HUMAN	acyl-CoA synthetase bubblegum family member 2	70					cell differentiation|fatty acid metabolic process|multicellular organismal development|spermatogenesis	membrane|microsome|mitochondrion	acyl-CoA thioesterase activity|ATP binding|long-chain fatty acid-CoA ligase activity			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(3)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TTATCCAGCCCTCGCATCCAA	0.463													9	189					0.000442599	0.000477972	1	1	0	A	6147597	C	A	6147597	3	1	81	1	0	0	0	0	1	0	0	0	174	681	24	4	214	4	ACSBG2	19	6147597	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	143334	6147597	52981386	13179	16795											
ACSBG2	81616	broad.mit.edu	37	19	6183213	6183213	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:6183213G>A	ENST00000588304.1	+	10	1548	c.1102G>A	c.(1102-1104)Gag>Aag	p.E368K	ACSBG2_ENST00000588485.1_Missense_Mutation_p.E231K|ACSBG2_ENST00000252669.5_Missense_Mutation_p.E418K|ACSBG2_ENST00000586696.1_Missense_Mutation_p.E418K|ACSBG2_ENST00000591403.1_Missense_Mutation_p.E418K|ACSBG2_ENST00000591741.1_3'UTR			Q5FVE4	ACBG2_HUMAN	acyl-CoA synthetase bubblegum family member 2	418					cell differentiation|fatty acid metabolic process|multicellular organismal development|spermatogenesis	membrane|microsome|mitochondrion	acyl-CoA thioesterase activity|ATP binding|long-chain fatty acid-CoA ligase activity			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(3)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						ACCTATAGGCGAGTTGTATGG	0.537													18	44					0	0	1	0	0	A	6183213	G	A	6183213	3	1	81	1	0	0	0	0	1	0	0	0	174	1059	37	1	1286	1	ACSBG2	19	6183213	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	35616	6183213	52945770	13180	16796											
MLLT1	4298	broad.mit.edu	37	19	6222532	6222532	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:6222532C>T	ENST00000252674.7	-	6	873	c.710G>A	c.(709-711)cGg>cAg	p.R237Q		NM_005934.3	NP_005925.2	Q03111	ENL_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1	237					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|protein binding			endometrium(3)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|skin(2)	17						CTTGGGCAGCCGGCCCTCGCC	0.642			T	MLL	AL								5	23					0	0	1	0	0	T	6222532	C	T	6222532	3	4	81	1	0	0	0	0	1	0	0	0	9673	652	23	1	997	1	MLLT1	19	6222532	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	39319	6222532	52906451	13181	16797											
ACER1	125981	broad.mit.edu	37	19	6309831	6309831	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:6309831C>T	ENST00000301452.4	-	4	442	c.365G>A	c.(364-366)cGc>cAc	p.R122H		NM_133492.2	NP_597999.1	Q8TDN7	ACER1_HUMAN	alkaline ceramidase 1	122						endoplasmic reticulum membrane|integral to membrane	ceramidase activity			NS(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|pancreas(1)	15						GAAGACCAGGCGGATGAACTG	0.612													14	21					0	0	1	0	0	T	6309831	C	T	6309831	3	4	81	1	0	0	0	0	1	0	0	0	138	768	27	1	441	1	ACER1	19	6309831	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	87299	6309831	52819152	13182	16798											
ACER1	125981	broad.mit.edu	37	19	6312450	6312450	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:6312450C>T	ENST00000301452.4	-	2	231	c.154G>A	c.(154-156)Gcc>Acc	p.A52T		NM_133492.2	NP_597999.1	Q8TDN7	ACER1_HUMAN	alkaline ceramidase 1	52						endoplasmic reticulum membrane|integral to membrane	ceramidase activity			NS(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|pancreas(1)	15						CGCTTCTGGGCATACGGGTGC	0.552													33	55					0	0	1	0	0	T	6312450	C	T	6312450	3	4	81	1	0	0	0	0	1	0	0	0	138	710	25	2	660	2	ACER1	19	6312450	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2619	6312450	52816533	13183	16799											
ACER1	125981	broad.mit.edu	37	19	6312496	6312496	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:6312496G>T	ENST00000301452.4	-	2	185	c.108C>A	c.(106-108)ccC>ccA	p.P36P		NM_133492.2	NP_597999.1	Q8TDN7	ACER1_HUMAN	alkaline ceramidase 1	36						endoplasmic reticulum membrane|integral to membrane	ceramidase activity			NS(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|pancreas(1)	15						AGATGAAGAAGGGGATATTGG	0.557													7	55					0.00307968	0.00324365	1	1	0	T	6312496	G	T	6312496	2	4	81	1	0	0	0	0	0	0	0	1	138	987	35	4		4	ACER1	19	6312496	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	46	6312496	52816487	13184	16800											
GTF2F1	2962	broad.mit.edu	37	19	6389587	6389587	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:6389587G>T	ENST00000394456.5	-	4	658	c.194C>A	c.(193-195)tCg>tAg	p.S65*	GTF2F1_ENST00000429701.2_Nonsense_Mutation_p.S37*|CTB-180A7.6_ENST00000599584.1_RNA	NM_002096.2	NP_002087.2	P35269	T2FA_HUMAN	general transcription factor IIF, polypeptide 1, 74kDa	65					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|response to virus|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cell junction|transcription factor TFIIF complex	catalytic activity|DNA binding|phosphatase activator activity|transcription coactivator activity|transcription factor binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(4)	16						GCCCGCGCCCGATTCGGGCAT	0.622													13	152					1.37285e-15	1.7532e-15	1	1	0	T	6389587	G	T	6389587	4	4	81	1	0	0	0	0	0	1	0	0	6899	1059	37	5	1399	5	GTF2F1	19	6389587	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	77091	6389587	52739396	13185	16801											
KHSRP	8570	broad.mit.edu	37	19	6420462	6420462	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:6420462T>C	ENST00000398148.3	-	5	538	c.446A>G	c.(445-447)tAc>tGc	p.Y149C		NM_003685.2	NP_003676.2	Q92945	FUBP2_HUMAN	KH-type splicing regulatory protein	149	Gly-rich.|KH 1.				mRNA processing|mRNA transport|regulation of transcription, DNA-dependent|RNA splicing, via transesterification reactions|transcription, DNA-dependent	cytosol|nucleus	DNA binding|protein binding|RNA binding			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(3)|liver(1)|lung(6)|skin(1)|soft_tissue(1)	17						TGGGACCCTGTACTCTTCTGT	0.577													8	15					0	0	1	0	0	C	6420462	T	C	6420462	3	2	81	1	0	0	0	0	1	0	0	0	8193	1638	57	3	1753	3	KHSRP	19	6420462	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	30875	6420462	52708521	13186	16802											
SLC25A41	284427	broad.mit.edu	37	19	6427135	6427135	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:6427135G>A	ENST00000321510.6	-	6	987	c.919C>T	c.(919-921)Cgc>Tgc	p.R307C		NM_173637.3	NP_775908.2	Q8N5S1	S2541_HUMAN	solute carrier family 25, member 41	307					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			large_intestine(1)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	6						ATCCTGGTGCGCACCAGAGTC	0.632													3	7					0	0	1	0	0	A	6427135	G	A	6427135	3	1	81	1	0	0	0	0	1	0	0	0	14561	1087	38	1	201	1	SLC25A41	19	6427135	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	6673	6427135	52701848	13187	16803											
SLC25A23	79085	broad.mit.edu	37	19	6442163	6442163	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:6442163G>A	ENST00000301454.4	-	10	1336	c.1230C>T	c.(1228-1230)atC>atT	p.I410I	SLC25A23_ENST00000414491.2_Silent_p.I171I|SLC25A23_ENST00000601760.1_Intron	NM_024103.2	NP_077008.2	Q9BV35	SCMC3_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 23	410					transmembrane transport	integral to membrane|mitochondrial inner membrane	calcium ion binding	p.I410I(1)		endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|pancreas(1)|skin(1)	17						GGCCACCCTCGATGGAGGCTG	0.667													5	1					0	0	1	0	0	A	6442163	G	A	6442163	2	1	81	1	0	0	0	0	0	0	0	1	14541	1048	37	1		1	SLC25A23	19	6442163	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	15028	6442163	52686820	13188	16804											
CRB3	92359	broad.mit.edu	37	19	6465560	6465560	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:6465560G>T	ENST00000598494.1	+	3	618	c.87G>T	c.(85-87)caG>caT	p.Q29H	CRB3_ENST00000600229.1_Missense_Mutation_p.Q29H|CRB3_ENST00000308243.7_Missense_Mutation_p.Q29H|CRB3_ENST00000356762.3_Missense_Mutation_p.Q29H			Q9BUF7	CRUM3_HUMAN	crumbs homolog 3 (Drosophila)	29					protein localization in plasma membrane|tight junction assembly	apical plasma membrane|integral to membrane|tight junction	SH3 domain binding			endometrium(1)|large_intestine(1)|lung(1)	3						CCACAGTACAGACCACTTCTG	0.532													32	285					1.56442e-22	2.05504e-22	1	1	0	T	6465560	G	T	6465560	3	4	81	1	0	0	0	0	1	0	0	0	3873	933	33	4	93	4	CRB3	19	6465560	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	23397	6465560	52663423	13189	16805											
CRB3	92359	broad.mit.edu	37	19	6466504	6466504	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:6466504G>A	ENST00000598494.1	+	4	715	c.184G>A	c.(184-186)Gtg>Atg	p.V62M	CRB3_ENST00000600229.1_Missense_Mutation_p.V62M|CRB3_ENST00000308243.7_Missense_Mutation_p.V62M|CRB3_ENST00000356762.3_Missense_Mutation_p.V62M			Q9BUF7	CRUM3_HUMAN	crumbs homolog 3 (Drosophila)	62					protein localization in plasma membrane|tight junction assembly	apical plasma membrane|integral to membrane|tight junction	SH3 domain binding			endometrium(1)|large_intestine(1)|lung(1)	3						TGCTATCATCGTGGTCTTCTC	0.627													22	167					0	0	1	0	0	A	6466504	G	A	6466504	3	1	81	1	0	0	0	0	1	0	0	0	3873	1145	40	1	194	1	CRB3	19	6466504	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	944	6466504	52662479	13190	16806											
DENND1C	79958	broad.mit.edu	37	19	6467591	6467591	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:6467591G>A	ENST00000381480.2	-	23	2442	c.2330C>T	c.(2329-2331)cCc>cTc	p.P777L	DENND1C_ENST00000543576.1_Missense_Mutation_p.P733L	NM_024898.2	NP_079174.2	Q8IV53	DEN1C_HUMAN	DENN/MADD domain containing 1C	777						clathrin-coated vesicle|cytosol	guanyl-nucleotide exchange factor activity			endometrium(3)|kidney(3)|large_intestine(1)|lung(3)	10						GTTGCTGGTGGGTGTAGCAGG	0.617													19	23					0	0	1	0	0	A	6467591	G	A	6467591	3	1	81	1	0	0	0	0	1	0	0	0	4456	1232	43	2	79	2	DENND1C	19	6467591	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1087	6467591	52661392	13191	16807											
DENND1C	79958	broad.mit.edu	37	19	6467603	6467603	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:6467603G>A	ENST00000381480.2	-	23	2430	c.2318C>T	c.(2317-2319)tCc>tTc	p.S773F	DENND1C_ENST00000543576.1_Missense_Mutation_p.S729F	NM_024898.2	NP_079174.2	Q8IV53	DEN1C_HUMAN	DENN/MADD domain containing 1C	773						clathrin-coated vesicle|cytosol	guanyl-nucleotide exchange factor activity			endometrium(3)|kidney(3)|large_intestine(1)|lung(3)	10						TGTAGCAGGGGAATTCAGGGC	0.617													16	20					0	0	1	0	0	A	6467603	G	A	6467603	3	1	81	1	0	0	0	0	1	0	0	0	4456	1174	41	2	91	2	DENND1C	19	6467603	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	12	6467603	52661380	13192	16808											
C3	718	broad.mit.edu	37	19	6686756	6686756	+	Splice_Site	SNP	C	C	T	rs113847049		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:6686756C>T	ENST00000245907.6	-	28	3739		c.e28+1			NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3						complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		CCAACCCTCACCTTTGGCTGT	0.552													99	175					0	0	1	0	0	T	6686756	C	T	6686756	5	4	81	1	0	0	0	0	0	0	1	0	2218	521	18	2	1400	2	C3	19	6686756	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	219153	6686756	52442227	13193	16809											
C3	718	broad.mit.edu	37	19	6697416	6697416	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:6697416A>T	ENST00000245907.6	-	21	2827	c.2735T>A	c.(2734-2736)gTc>gAc	p.V912D		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	912					complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		AGCAGCCTTGACTTCCACTTC	0.557													8	38					0	0	1	0	0	T	6697416	A	T	6697416	3	4	81	1	0	0	0	0	1	0	0	0	2218	275	10	5	2340	5	C3	19	6697416	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	10660	6697416	52431567	13194	16810											
C3	718	broad.mit.edu	37	19	6714050	6714050	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:6714050G>T	ENST00000245907.6	-	7	818	c.726C>A	c.(724-726)ttC>ttA	p.F242L		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	242					complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		AGATGTAGTAGAATTTCTCTG	0.612													22	58					1.55469e-16	1.99639e-16	1	1	0	T	6714050	G	T	6714050	3	4	81	1	0	0	0	0	1	0	0	0	2218	933	33	4	4405	4	C3	19	6714050	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	16634	6714050	52414933	13195	16811											
C3	718	broad.mit.edu	37	19	6718263	6718263	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:6718263G>A	ENST00000245907.6	-	3	520	c.428C>T	c.(427-429)tCc>tTc	p.S143F		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	143					complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		CTCACCTGTGGAGCCAGGGGT	0.642													5	19					0	0	1	0	0	A	6718263	G	A	6718263	3	1	81	1	0	0	0	0	1	0	0	0	2218	1174	41	2	4719	2	C3	19	6718263	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	4213	6718263	52410720	13196	16812											
GPR108	56927	broad.mit.edu	37	19	6733194	6733194	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:6733194A>G	ENST00000264080.7	-	9	868	c.842T>C	c.(841-843)aTc>aCc	p.I281T	GPR108_ENST00000430424.4_Missense_Mutation_p.I39T	NM_001080452.1	NP_001073921.1	Q9NPR9	GP108_HUMAN	G protein-coupled receptor 108	281						integral to membrane				breast(2)|cervix(1)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1)	13						CCTGCAGAGGATGGACACCCA	0.622													28	27					0	0	1	0	0	G	6733194	A	G	6733194	3	3	81	1	0	0	0	0	1	0	0	0	6664	333	12	3	829	3	GPR108	19	6733194	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	14931	6733194	52395789	13197	16813											
SH2D3A	10045	broad.mit.edu	37	19	6754118	6754118	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:6754118C>T	ENST00000245908.6	-	8	1598	c.1329G>A	c.(1327-1329)gcG>gcA	p.A443A	SH2D3A_ENST00000437152.3_Silent_p.A350A	NM_005490.2	NP_005481.2	Q9BRG2	SH23A_HUMAN	SH2 domain containing 3A	443					JNK cascade|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|urinary_tract(1)	24						CAAAGGCCAGCGCAGCCTCCG	0.647													5	11					0	0	1	0	0	T	6754118	C	T	6754118	2	4	81	1	0	0	0	0	0	0	0	1	14287	755	27	1		1	SH2D3A	19	6754118	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	20924	6754118	52374865	13198	16814											
SH2D3A	10045	broad.mit.edu	37	19	6760693	6760693	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:6760693G>A	ENST00000245908.6	-	3	644	c.375C>T	c.(373-375)agC>agT	p.S125S	SH2D3A_ENST00000599563.1_5'UTR|SH2D3A_ENST00000437152.3_Intron	NM_005490.2	NP_005481.2	Q9BRG2	SH23A_HUMAN	SH2 domain containing 3A	125					JNK cascade|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|urinary_tract(1)	24						GGGTGTCCTCGCTAAAGCTGC	0.597													12	12					0	0	1	0	0	A	6760693	G	A	6760693	2	1	81	1	0	0	0	0	0	0	0	1	14287	1078	38	1		1	SH2D3A	19	6760693	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	6575	6760693	52368290	13199	16815											
VAV1	7409	broad.mit.edu	37	19	6829843	6829843	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:6829843G>A	ENST00000304076.2	+	14	1406	c.1312G>A	c.(1312-1314)Gga>Aga	p.G438R	VAV1_ENST00000602142.1_Missense_Mutation_p.G438R|VAV1_ENST00000599806.1_Missense_Mutation_p.G383R|VAV1_ENST00000539284.1_Missense_Mutation_p.G341R|VAV1_ENST00000596764.1_Missense_Mutation_p.G406R	NM_001258206.1	NP_001245135.1	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	438	PH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						TAAGCGCAGGGGAGACTCCTA	0.527													8	92					0	0	1	0	0	A	6829843	G	A	6829843	3	1	81	1	0	0	0	0	1	0	0	0	17191	1233	43	2	1366	2	VAV1	19	6829843	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	69150	6829843	52299140	13200	16816											
VAV1	7409	broad.mit.edu	37	19	6829876	6829876	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:6829876C>A	ENST00000304076.2	+	14	1439	c.1345C>A	c.(1345-1347)Ctg>Atg	p.L449M	VAV1_ENST00000602142.1_Missense_Mutation_p.L449M|VAV1_ENST00000599806.1_Missense_Mutation_p.L394M|VAV1_ENST00000539284.1_Missense_Mutation_p.L352M|VAV1_ENST00000596764.1_Missense_Mutation_p.L417M	NM_001258206.1	NP_001245135.1	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	449	PH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						CTTTGTAAACCTGCACAGCTT	0.542													11	78					1.08611e-07	1.27405e-07	1	1	0	A	6829876	C	A	6829876	3	1	81	1	0	0	0	0	1	0	0	0	17191	680	24	4	1399	4	VAV1	19	6829876	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	33	6829876	52299107	13201	16817											
EMR1	2015	broad.mit.edu	37	19	6904078	6904078	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:6904078C>A	ENST00000312053.4	+	8	871	c.834C>A	c.(832-834)acC>acA	p.T278T	EMR1_ENST00000450315.3_Intron|EMR1_ENST00000381404.4_Silent_p.T226T|EMR1_ENST00000250572.8_Silent_p.T278T|EMR1_ENST00000381407.5_Silent_p.T137T	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 1	278	EGF-like 6; calcium-binding (Potential).				cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					ATCCATCAACCTGTGGTCCTA	0.473													23	57					7.33532e-06	8.31348e-06	1	1	0	A	6904078	C	A	6904078	2	1	81	1	0	0	0	0	0	0	0	1	5132	668	24	4		4	EMR1	19	6904078	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	74202	6904078	52224905	13202	16818											
EMR1	2015	broad.mit.edu	37	19	6921808	6921808	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:6921808A>G	ENST00000312053.4	+	14	1742	c.1705A>G	c.(1705-1707)Atc>Gtc	p.I569V	EMR1_ENST00000450315.3_Missense_Mutation_p.I392V|EMR1_ENST00000381404.4_Missense_Mutation_p.I517V|EMR1_ENST00000250572.8_Missense_Mutation_p.I569V|EMR1_ENST00000381407.5_Missense_Mutation_p.I428V	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 1	569	GPS.|Ser/Thr-rich.				cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					TGGCTGTGTGATCCTGGAAGC	0.468													7	72					0	0	1	0	0	G	6921808	A	G	6921808	3	3	81	1	0	0	0	0	1	0	0	0	5132	333	12	3	1759	3	EMR1	19	6921808	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	17730	6921808	52207175	13203	16819											
INSR	3643	broad.mit.edu	37	19	7170584	7170584	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:7170584C>T	ENST00000341500.5	-	6	1486	c.1447G>A	c.(1447-1449)Gac>Aac	p.D483N	INSR_ENST00000302850.5_Missense_Mutation_p.D483N	NM_001079817.1	NP_001073285.1	P06213	INSR_HUMAN	insulin receptor	483					activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus	caveola|endosome membrane|insulin receptor complex|microsome	ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding			breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	AGGGCAATGTCGTTTCTCTCC	0.502													17	146					0	0	1	0	0	T	7170584	C	T	7170584	3	4	81	1	0	0	0	0	1	0	0	0	7817	884	31	1	2769	1	INSR	19	7170584	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	248776	7170584	51958399	13204	16820											
INSR	3643	broad.mit.edu	37	19	7267410	7267410	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:7267410C>T	ENST00000341500.5	-	2	637	c.598G>A	c.(598-600)Gtc>Atc	p.V200I	INSR_ENST00000302850.5_Missense_Mutation_p.V200I	NM_001079817.1	NP_001073285.1	P06213	INSR_HUMAN	insulin receptor	200	Cys-rich.				activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus	caveola|endosome membrane|insulin receptor complex|microsome	ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding			breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CCGTTGATGACGGTGGCGGGG	0.537													25	30					0	0	1	0	0	T	7267410	C	T	7267410	3	4	81	1	0	0	0	0	1	0	0	0	7817	536	19	1	3634	1	INSR	19	7267410	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	96826	7267410	51861573	13205	16821											
INSR	3643	broad.mit.edu	37	19	7267515	7267515	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:7267515C>A	ENST00000341500.5	-	2	532	c.493G>T	c.(493-495)Gat>Tat	p.D165Y	INSR_ENST00000302850.5_Missense_Mutation_p.D165Y	NM_001079817.1	NP_001073285.1	P06213	INSR_HUMAN	insulin receptor	165					activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus	caveola|endosome membrane|insulin receptor complex|microsome	ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding			breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TCCACGGAATCCAGGATACGG	0.537													7	51					1.26484e-09	1.5311e-09	1	1	0	A	7267515	C	A	7267515	3	1	81	1	0	0	0	0	1	0	0	0	7817	855	30	5	3739	5	INSR	19	7267515	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	105	7267515	51861468	13206	16822											
ARHGEF18	23370	broad.mit.edu	37	19	7509119	7509119	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:7509119C>T	ENST00000359920.6	+	4	1079	c.826C>T	c.(826-828)Cgg>Tgg	p.R276W	CTD-2207O23.3_ENST00000593531.1_Silent_p.C233C|ARHGEF18_ENST00000319670.9_Missense_Mutation_p.R118W	NM_001130955.1	NP_001124427.1	Q6ZSZ5	ARHGI_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 18	276	DH.				actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of cell shape|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1)	23		Renal(5;0.0902)				GCACCACGTGCGGACGCTCAA	0.637													22	28					0	0	1	0	0	T	7509119	C	T	7509119	3	4	81	1	0	0	0	0	1	0	0	0	898	759	27	1	840	1	ARHGEF18	19	7509119	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	241604	7509119	51619864	13207	16823											
PEX11G	92960	broad.mit.edu	37	19	7550889	7550889	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:7550889G>A	ENST00000221480.1	-	2	92	c.84C>T	c.(82-84)tgC>tgT	p.C28C	PEX11G_ENST00000593942.1_5'UTR	NM_001270539.1|NM_080662.3	NP_001257468.1|NP_542393.1	Q96HA9	PX11C_HUMAN	peroxisomal biogenesis factor 11 gamma	28						integral to membrane|peroxisomal membrane				central_nervous_system(1)|cervix(1)|endometrium(1)|lung(1)|ovary(1)|prostate(1)|skin(1)	7						CAACCAGCTGGCAGCAGTACC	0.607													9	13					0	0	1	0	0	A	7550889	G	A	7550889	2	1	81	1	0	0	0	0	0	0	0	1	11787	1195	42	2		2	PEX11G	19	7550889	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	41770	7550889	51578094	13208	16824											
MCOLN1	57192	broad.mit.edu	37	19	7595356	7595356	+	Missense_Mutation	SNP	C	C	T	rs151300825		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:7595356C>T	ENST00000264079.6	+	12	1669	c.1544C>T	c.(1543-1545)gCg>gTg	p.A515V		NM_020533.2	NP_065394.1	Q9GZU1	MCLN1_HUMAN	mucolipin 1	515					calcium ion transport|cellular iron ion homeostasis|transferrin transport	integral to plasma membrane|late endosome membrane|lysosomal membrane	cation channel activity|iron ion transmembrane transporter activity			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CTCTTCATCGCGCTCATCACC	0.622													67	89					0	0	1	0	0	T	7595356	C	T	7595356	3	4	81	1	0	0	0	0	1	0	0	0	9445	768	27	1	1590	1	MCOLN1	19	7595356	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	44467	7595356	51533627	13209	16825											
PNPLA6	10908	broad.mit.edu	37	19	7621421	7621421	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:7621421G>T	ENST00000221249.6	+	28	3493	c.3062G>T	c.(3061-3063)aGc>aTc	p.S1021I	PNPLA6_ENST00000600737.1_Missense_Mutation_p.S1059I|PNPLA6_ENST00000414982.3_Missense_Mutation_p.S1069I|PNPLA6_ENST00000545201.2_Missense_Mutation_p.S994I|PNPLA6_ENST00000450331.3_Missense_Mutation_p.S1021I	NM_006702.4	NP_006693.3	Q8IY17	PLPL6_HUMAN	patatin-like phospholipase domain containing 6	1060	Patatin.				cell death|lipid catabolic process|phosphatidylcholine metabolic process	endoplasmic reticulum membrane|integral to membrane	lysophospholipase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						TTTAACCGCAGCATCCATCGG	0.617													6	87					0.000157383	0.000171784	1	1	0	T	7621421	G	T	7621421	3	4	81	1	0	0	0	0	1	0	0	0	12217	971	34	4	3308	4	PNPLA6	19	7621421	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	26065	7621421	51507562	13210	16826											
PNPLA6	10908	broad.mit.edu	37	19	7622065	7622065	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:7622065C>T	ENST00000221249.6	+	30	3609	c.3178C>T	c.(3178-3180)Cgg>Tgg	p.R1060W	PNPLA6_ENST00000600737.1_Missense_Mutation_p.R1098W|PNPLA6_ENST00000414982.3_Missense_Mutation_p.R1108W|PNPLA6_ENST00000545201.2_Missense_Mutation_p.R1033W|PNPLA6_ENST00000450331.3_Missense_Mutation_p.R1060W	NM_006702.4	NP_006693.3	Q8IY17	PLPL6_HUMAN	patatin-like phospholipase domain containing 6	1099	Patatin.				cell death|lipid catabolic process|phosphatidylcholine metabolic process	endoplasmic reticulum membrane|integral to membrane	lysophospholipase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						CTCCCTGTGGCGGTACGTGCG	0.667													13	28					0	0	1	0	0	T	7622065	C	T	7622065	3	4	81	1	0	0	0	0	1	0	0	0	12217	759	27	1	3432	1	PNPLA6	19	7622065	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	644	7622065	51506918	13211	16827											
XAB2	56949	broad.mit.edu	37	19	7684859	7684859	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:7684859C>T	ENST00000358368.4	-	17	2406	c.2369G>A	c.(2368-2370)cGc>cAc	p.R790H	XAB2_ENST00000534844.1_Missense_Mutation_p.R787H	NM_020196.2	NP_064581.2	Q9HCS7	SYF1_HUMAN	XPA binding protein 2	790					transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	catalytic step 2 spliceosome|nucleoplasm	protein binding			breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	26						GCTCTGGGCGCGCAAGGGCTG	0.672								Direct reversal of damage;Nucleotide excision repair (NER)					17	28					0	0	1	0	0	T	7684859	C	T	7684859	3	4	81	1	0	0	0	0	1	0	0	0	17478	768	27	1	210	1	XAB2	19	7684859	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	62794	7684859	51444124	13212	16828	81	2									
XAB2	56949	broad.mit.edu	37	19	7684867	7684867	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:7684867C>T	ENST00000358368.4	-	17	2398	c.2361G>A	c.(2359-2361)caG>caA	p.Q787Q	XAB2_ENST00000534844.1_Silent_p.Q784Q	NM_020196.2	NP_064581.2	Q9HCS7	SYF1_HUMAN	XPA binding protein 2	787					transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	catalytic step 2 spliceosome|nucleoplasm	protein binding			breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	26						CGCGCAAGGGCTGGTCACGCT	0.672								Direct reversal of damage;Nucleotide excision repair (NER)					6	39					0	0	1	0	0	T	7684867	C	T	7684867	2	4	81	1	0	0	0	0	0	0	0	1	17478	796	28	2		2	XAB2	19	7684867	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	8	7684867	51444116	13213	16829	81	2									
XAB2	56949	broad.mit.edu	37	19	7685535	7685535	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:7685535C>T	ENST00000358368.4	-	15	2029	c.1992G>A	c.(1990-1992)gcG>gcA	p.A664A	XAB2_ENST00000534844.1_Silent_p.A661A	NM_020196.2	NP_064581.2	Q9HCS7	SYF1_HUMAN	XPA binding protein 2	664					transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	catalytic step 2 spliceosome|nucleoplasm	protein binding			breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	26						ACATCTCACGCGCGTGCTCGT	0.667								Direct reversal of damage;Nucleotide excision repair (NER)					9	21					0	0	1	0	0	T	7685535	C	T	7685535	2	4	81	1	0	0	0	0	0	0	0	1	17478	755	27	1		1	XAB2	19	7685535	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	668	7685535	51443448	13214	16830											
RETN	56729	broad.mit.edu	37	19	7735145	7735145	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:7735145C>T	ENST00000221515.2	+	4	325	c.237C>T	c.(235-237)ggC>ggT	p.G79G	RETN_ENST00000381324.2_Silent_p.G53G	NM_001193374.1|NM_020415.3	NP_001180303.1|NP_065148.1	Q9HD89	RETN_HUMAN	resistin	79							hormone activity			ovary(1)	1						CCGCCTGTGGCTCGTGGGATG	0.697													6	5					0	0	1	0	0	T	7735145	C	T	7735145	2	4	81	1	0	0	0	0	0	0	0	1	13288	784	28	2		2	RETN	19	7735145	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	49610	7735145	51393838	13215	16831											
TRAPPC5	126003	broad.mit.edu	37	19	7747355	7747355	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:7747355C>T	ENST00000597959.1	+	3	392	c.392C>T	c.(391-393)gCg>gTg	p.A131V	TRAPPC5_ENST00000596148.1_Silent_p.R72R|TRAPPC5_ENST00000595985.1_Intron|TRAPPC5_ENST00000426877.2_Silent_p.R72R|TRAPPC5_ENST00000317378.5_Silent_p.R72R																							TGGTGGCGCGCGAAAAGGGTG	0.711													8	5					0	0	1	0	0	T	7747355	C	T	7747355	3	4	81	1	0	0	0	0	1	0	0	0	16523	755	27	1	218	1	TRAPPC5	19	7747355	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	12210	7747355	51381628	13216	16832											
TRAPPC5	126003	broad.mit.edu	37	19	7747556	7747556	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:7747556C>T	ENST00000317378.5	+	2	604	c.417C>T	c.(415-417)tgC>tgT	p.C139C	CTD-3214H19.16_ENST00000597959.1_3'UTR|TRAPPC5_ENST00000596148.1_Silent_p.C139C|TRAPPC5_ENST00000595985.1_Silent_p.C72C|TRAPPC5_ENST00000426877.2_Silent_p.C139C	NM_174894.2	NP_777554.1	Q8IUR0	TPPC5_HUMAN	trafficking protein particle complex 5	139					vesicle-mediated transport	endoplasmic reticulum	guanylate cyclase activity|heme binding			NS(1)|lung(2)	3						CGCTCAACTGCGCCAGCTTCA	0.627													8	9					0	0	1	0	0	T	7747556	C	T	7747556	2	4	81	1	0	0	0	0	0	0	0	1	16523	776	27	1		1	TRAPPC5	19	7747556	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	201	7747556	51381427	13217	16833											
CLEC4G	339390	broad.mit.edu	37	19	7794735	7794735	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:7794735A>G	ENST00000328853.5	-	8	783	c.715T>C	c.(715-717)Tgg>Cgg	p.W239R		NM_001244856.1|NM_198492.3	NP_001231785.1|NP_940894.1	Q6UXB4	CLC4G_HUMAN	C-type lectin domain family 4, member G	239	C-type lectin.					integral to membrane	protein binding|sugar binding			breast(1)|cervix(2)|endometrium(1)|large_intestine(1)|lung(1)	6						CCGTCCACCCACTGGTAGCCC	0.607													22	56					0	0	1	0	0	G	7794735	A	G	7794735	3	3	81	1	0	0	0	0	1	0	0	0	3540	159	6	3	174	3	CLEC4G	19	7794735	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	47179	7794735	51334248	13218	16834											
CD209	30835	broad.mit.edu	37	19	7809028	7809028	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:7809028C>T	ENST00000315599.7	-	6	1000	c.978G>A	c.(976-978)acG>acA	p.T326T	CD209_ENST00000394173.4_Silent_p.T165T|CD209_ENST00000301357.8_Silent_p.T190T|CD209_ENST00000204801.8_Silent_p.T282T|CD209_ENST00000394161.5_Silent_p.T90T|CD209_ENST00000593821.1_Silent_p.T190T|CD209_ENST00000602261.1_Silent_p.T234T|CD209_ENST00000593660.1_Silent_p.T256T|CD209_ENST00000601951.1_Silent_p.T302T|CD209_ENST00000354397.6_Silent_p.T320T|CD209_ENST00000601256.1_Intron|CD209_ENST00000315591.8_Silent_p.T302T	NM_001144895.1|NM_001144897.1|NM_021155.3	NP_001138367.1|NP_001138369.1|NP_066978.1	Q9NNX6	CD209_HUMAN	CD209 molecule	326	C-type lectin.				cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to membrane|plasma membrane	mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding			endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						CCCATTGCCACGTGCCTTCCT	0.522													19	45					0	0	1	0	0	T	7809028	C	T	7809028	2	4	81	1	0	0	0	0	0	0	0	1	3006	523	19	1		1	CD209	19	7809028	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	14293	7809028	51319955	13219	16835											
LRRC8E	80131	broad.mit.edu	37	19	7965224	7965224	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:7965224C>T	ENST00000539278.1	-	1	3203	c.43G>A	c.(43-45)Gca>Aca	p.A15T	LRRC8E_ENST00000306708.6_Missense_Mutation_p.A606V																							AGCCTGGGTGCGCTGCAGGAA	0.632													17	18					0	0	1	0	0	T	7965224	C	T	7965224	3	4	81	1	0	0	0	0	1	0	0	0	9070	768	27	1	1823	1	LRRC8E	19	7965224	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	156196	7965224	51163759	13220	16836											
ELAVL1	1994	broad.mit.edu	37	19	8032574	8032574	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:8032574C>T	ENST00000407627.2	-	5	660	c.531G>A	c.(529-531)gaG>gaA	p.E177E	ELAVL1_ENST00000351593.5_Silent_p.E204E|ELAVL1_ENST00000593807.1_Intron|ELAVL1_ENST00000596459.1_Silent_p.E177E	NM_001419.2	NP_001410.2	Q15717	ELAV1_HUMAN	ELAV like RNA binding protein 1	177	RRM 2.				3'-UTR-mediated mRNA stabilization|multicellular organismal development	cytoplasm|nucleoplasm	identical protein binding|mRNA binding|nucleotide binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						CTGTGATGGGCTCAGAGGAAC	0.557													18	29					0	0	1	0	0	T	8032574	C	T	8032574	2	4	81	1	0	0	0	0	0	0	0	1	5077	796	28	2		2	ELAVL1	19	8032574	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	67350	8032574	51096409	13221	16837											
FBN3	84467	broad.mit.edu	37	19	8139980	8139980	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:8139980C>T	ENST00000600128.1	-	61	8091	c.7677G>A	c.(7675-7677)caG>caA	p.Q2559Q	FBN3_ENST00000601739.1_Silent_p.Q2559Q|FBN3_ENST00000270509.2_Silent_p.Q2559Q			Q75N90	FBN3_HUMAN	fibrillin 3	2559	EGF-like 42; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						ACTGGGAGTGCTGGGTGAAAC	0.612													24	42					0	0	1	0	0	T	8139980	C	T	8139980	2	4	81	1	0	0	0	0	0	0	0	1	5737	796	28	2		2	FBN3	19	8139980	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	107406	8139980	50989003	13222	16838											
FBN3	84467	broad.mit.edu	37	19	8151120	8151120	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:8151120C>A	ENST00000600128.1	-	55	7258	c.6844G>T	c.(6844-6846)Gga>Tga	p.G2282*	FBN3_ENST00000601739.1_Nonsense_Mutation_p.G2282*|FBN3_ENST00000270509.2_Nonsense_Mutation_p.G2282*			Q75N90	FBN3_HUMAN	fibrillin 3	2282	EGF-like 37; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						GGCTGGAATCCCTCATCACAG	0.612													28	45					4.4194e-11	5.45873e-11	1	1	0	A	8151120	C	A	8151120	4	1	81	1	0	0	0	0	0	1	0	0	5737	632	22	5	1625	5	FBN3	19	8151120	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	11140	8151120	50977863	13223	16839											
FBN3	84467	broad.mit.edu	37	19	8152081	8152081	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:8152081C>T	ENST00000600128.1	-	54	7048	c.6634G>A	c.(6634-6636)Gca>Aca	p.A2212T	FBN3_ENST00000601739.1_Missense_Mutation_p.A2212T|FBN3_ENST00000270509.2_Missense_Mutation_p.A2212T			Q75N90	FBN3_HUMAN	fibrillin 3	2212	EGF-like 36; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						TGACCATCTGCACACTCGTCC	0.632													18	30					0	0	1	0	0	T	8152081	C	T	8152081	3	4	81	1	0	0	0	0	1	0	0	0	5737	710	25	2	1839	2	FBN3	19	8152081	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	961	8152081	50976902	13224	16840											
FBN3	84467	broad.mit.edu	37	19	8159439	8159439	+	Silent	SNP	C	C	T	rs147423270	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:8159439C>T	ENST00000600128.1	-	47	6210	c.5796G>A	c.(5794-5796)gaG>gaA	p.E1932E	FBN3_ENST00000601739.1_Silent_p.E1932E|FBN3_ENST00000270509.2_Silent_p.E1932E			Q75N90	FBN3_HUMAN	fibrillin 3	1932	EGF-like 31; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						GGCTGAGGCACTCATTGGTGT	0.592													6	23					0	0	1	0	0	T	8159439	C	T	8159439	2	4	81	1	0	0	0	0	0	0	0	1	5737	564	20	2		2	FBN3	19	8159439	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	7358	8159439	50969544	13225	16841											
FBN3	84467	broad.mit.edu	37	19	8161815	8161815	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:8161815C>T	ENST00000600128.1	-	43	5777	c.5363G>A	c.(5362-5364)cGc>cAc	p.R1788H	FBN3_ENST00000601739.1_Missense_Mutation_p.R1788H|FBN3_ENST00000270509.2_Missense_Mutation_p.R1788H			Q75N90	FBN3_HUMAN	fibrillin 3	1788	EGF-like 27; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	p.R1788L(1)		NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						GCACTTGCAGCGGTAGCTACC	0.597													5	58					0	0	1	0	0	T	8161815	C	T	8161815	3	4	81	1	0	0	0	0	1	0	0	0	5737	768	27	1	3154	1	FBN3	19	8161815	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2376	8161815	50967168	13226	16842											
FBN3	84467	broad.mit.edu	37	19	8174224	8174224	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:8174224C>T	ENST00000600128.1	-	36	4919	c.4505G>A	c.(4504-4506)aGt>aAt	p.S1502N	FBN3_ENST00000601739.1_Missense_Mutation_p.S1502N|FBN3_ENST00000270509.2_Missense_Mutation_p.S1502N			Q75N90	FBN3_HUMAN	fibrillin 3	1502	TB 6.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						GGAAATGCCACTGTCCCCTCG	0.597													25	45					0	0	1	0	0	T	8174224	C	T	8174224	3	4	81	1	0	0	0	0	1	0	0	0	5737	565	20	2	4040	2	FBN3	19	8174224	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	12409	8174224	50954759	13227	16843											
FBN3	84467	broad.mit.edu	37	19	8190852	8190852	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:8190852G>A	ENST00000600128.1	-	22	3069	c.2655C>T	c.(2653-2655)tgC>tgT	p.C885C	FBN3_ENST00000601739.1_Silent_p.C885C|FBN3_ENST00000270509.2_Silent_p.C885C			Q75N90	FBN3_HUMAN	fibrillin 3	885	EGF-like 11; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						CAGTGTTGACGCAACGCCCGT	0.637													14	23					0	0	1	0	0	A	8190852	G	A	8190852	2	1	81	1	0	0	0	0	0	0	0	1	5737	1079	38	1		1	FBN3	19	8190852	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	16628	8190852	50938131	13228	16844											
FBN3	84467	broad.mit.edu	37	19	8191363	8191363	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:8191363C>T	ENST00000600128.1	-	20	2957	c.2543G>A	c.(2542-2544)cGc>cAc	p.R848H	FBN3_ENST00000601739.1_Missense_Mutation_p.R848H|FBN3_ENST00000270509.2_Missense_Mutation_p.R848H			Q75N90	FBN3_HUMAN	fibrillin 3	848	TB 4.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						GATCTCGCAGCGTTCGCAGGG	0.647													5	12					0	0	1	0	0	T	8191363	C	T	8191363	3	4	81	1	0	0	0	0	1	0	0	0	5737	768	27	1	6066	1	FBN3	19	8191363	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	511	8191363	50937620	13229	16845											
FBN3	84467	broad.mit.edu	37	19	8191660	8191660	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:8191660C>T	ENST00000600128.1	-	19	2767	c.2353G>A	c.(2353-2355)Ggc>Agc	p.G785S	FBN3_ENST00000601739.1_Missense_Mutation_p.G785S|FBN3_ENST00000270509.2_Missense_Mutation_p.G785S			Q75N90	FBN3_HUMAN	fibrillin 3	785	EGF-like 10; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						GTGTAGGAGCCGGCCAGGTTC	0.662													8	14					0	0	1	0	0	T	8191660	C	T	8191660	3	4	81	1	0	0	0	0	1	0	0	0	5737	652	23	1	6260	1	FBN3	19	8191660	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	297	8191660	50937323	13230	16846											
FBN3	84467	broad.mit.edu	37	19	8201322	8201322	+	Missense_Mutation	SNP	C	C	T	rs142403623		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:8201322C>T	ENST00000600128.1	-	11	1709	c.1295G>A	c.(1294-1296)cGc>cAc	p.R432H	FBN3_ENST00000601739.1_Missense_Mutation_p.R432H|FBN3_ENST00000270509.2_Missense_Mutation_p.R432H			Q75N90	FBN3_HUMAN	fibrillin 3	432	EGF-like 3.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						ACACTCGCAGCGGTAGCTGGA	0.642													30	47					0	0	1	0	0	T	8201322	C	T	8201322	3	4	81	1	0	0	0	0	1	0	0	0	5737	768	27	1	7350	1	FBN3	19	8201322	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	9662	8201322	50927661	13231	16847											
FBN3	84467	broad.mit.edu	37	19	8211083	8211083	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:8211083C>A	ENST00000600128.1	-	4	691	c.277G>T	c.(277-279)Ggc>Tgc	p.G93C	FBN3_ENST00000601739.1_Missense_Mutation_p.G93C|FBN3_ENST00000270509.2_Missense_Mutation_p.G93C			Q75N90	FBN3_HUMAN	fibrillin 3	93						proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						GAGCAGAAGCCTTCACCGCAG	0.687													5	3					0.00116845	0.00124301	1	1	0	A	8211083	C	A	8211083	3	1	81	1	0	0	0	0	1	0	0	0	5737	681	24	4	8396	4	FBN3	19	8211083	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	9761	8211083	50917900	13232	16848											
NDUFA7	4701	broad.mit.edu	37	19	8376449	8376449	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:8376449C>T	ENST00000301457.2	-	4	319	c.282G>A	c.(280-282)gcG>gcA	p.A94A	NDUFA7_ENST00000598884.1_Silent_p.A94A	NM_005001.3	NP_004992.2	O95182	NDUA7_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 7, 14.5kDa	94					mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity	p.A94A(1)		NS(1)|central_nervous_system(1)|lung(2)|ovary(1)	5					NADH(DB00157)	CTGGAGTCACCGCCTTCTTCT	0.572													5	94					0	0	1	0	0	T	8376449	C	T	8376449	2	4	81	1	0	0	0	0	0	0	0	1	10317	639	23	1		1	NDUFA7	19	8376449	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	165366	8376449	50752534	13233	16849											
ANGPTL4	51129	broad.mit.edu	37	19	8430878	8430878	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:8430878T>C	ENST00000301455.2	+	2	530	c.359T>C	c.(358-360)tTc>tCc	p.F120S	ANGPTL4_ENST00000541807.1_5'UTR|ANGPTL4_ENST00000393962.2_Missense_Mutation_p.F120S	NM_139314.1	NP_647475.1	Q9BY76	ANGL4_HUMAN	angiopoietin-like 4	120					angiogenesis|cell differentiation|cellular lipid metabolic process|negative regulation of apoptosis|negative regulation of lipoprotein lipase activity|positive regulation of angiogenesis|response to hypoxia|signal transduction|triglyceride homeostasis	extracellular space|proteinaceous extracellular matrix	enzyme inhibitor activity|receptor binding			large_intestine(1)|lung(1)|ovary(2)|skin(2)	6						CAGCAACTCTTCCACAAGGTG	0.552													16	17					0	0	1	0	0	C	8430878	T	C	8430878	3	2	81	1	0	0	0	0	1	0	0	0	612	1783	62	3	365	3	ANGPTL4	19	8430878	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	54429	8430878	50698105	13234	16850											
MARCH2	51257	broad.mit.edu	37	19	8486897	8486897	+	Missense_Mutation	SNP	C	C	T	rs138648064		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:8486897C>T	ENST00000602117.1	+	2	628	c.173C>T	c.(172-174)cCg>cTg	p.P58L	MARCH2_ENST00000601283.1_Intron|MARCH2_ENST00000381035.4_Missense_Mutation_p.P58L|MARCH2_ENST00000393944.1_Missense_Mutation_p.P58L|MARCH2_ENST00000215555.2_Missense_Mutation_p.P58L			Q9P0N8	MARH2_HUMAN	membrane-associated ring finger (C3HC4) 2, E3 ubiquitin protein ligase	58					endocytosis	cytoplasmic vesicle|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane	ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|large_intestine(1)|lung(3)|ovary(3)|skin(1)|urinary_tract(1)	10						TTGGACACACCGAGGTGAGTG	0.607													16	33					0	0	1	0	0	T	8486897	C	T	8486897	3	4	81	1	0	0	0	0	1	0	0	0	9351	652	23	1	175	1	MARCH2	19	8486897	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	56019	8486897	50642086	13235	16851											
HNRNPM	4670	broad.mit.edu	37	19	8528381	8528381	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:8528381G>A	ENST00000348943.3	+	4	569	c.337G>A	c.(337-339)Gga>Aga	p.G113R	HNRNPM_ENST00000325495.4_Splice_Site_p.G113R	NM_031203.3	NP_112480.2	P52272	HNRPM_HUMAN	heterogeneous nuclear ribonucleoprotein M	113	RRM 1.				alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|integral to plasma membrane|nuclear matrix|nucleolus|paraspeckles	nucleotide binding|protein domain specific binding|RNA binding			endometrium(5)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)	25						TCCTCCAAAGGGATGTGCGTA	0.368													18	94					0	0	1	0	0	A	8528381	G	A	8528381	5	1	81	1	0	0	0	0	0	0	1	0	7312	1246	43	2	351	2	HNRNPM	19	8528381	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	41484	8528381	50600602	13236	16852											
PRAM1	84106	broad.mit.edu	37	19	8563370	8563370	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:8563370C>T	ENST00000423345.4	-	2	1842	c.1322G>A	c.(1321-1323)cGg>cAg	p.R441Q	PRAM1_ENST00000255612.3_Missense_Mutation_p.R441Q			Q96QH2	PRAM_HUMAN	PML-RARA regulated adaptor molecule 1	489	Pro-rich.						lipid binding|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)	19						CAGAGGCCTCCGCCGGGGTGG	0.711													9	5					0	0	1	0	0	T	8563370	C	T	8563370	3	4	81	1	0	0	0	0	1	0	0	0	12472	652	23	1	723	1	PRAM1	19	8563370	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	34989	8563370	50565613	13237	16853											
PRAM1	84106	broad.mit.edu	37	19	8563583	8563583	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:8563583G>T	ENST00000423345.4	-	2	1629	c.1109C>A	c.(1108-1110)cCg>cAg	p.P370Q	PRAM1_ENST00000255612.3_Missense_Mutation_p.P370Q			Q96QH2	PRAM_HUMAN	PML-RARA regulated adaptor molecule 1	418	Pro-rich.						lipid binding|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)	19						CTCAGGCTGCGGGTGTCTCTT	0.667													3	4					0.115264	0.117126	1	1	0	T	8563583	G	T	8563583	3	4	81	1	0	0	0	0	1	0	0	0	12472	1116	39	5	936	5	PRAM1	19	8563583	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	213	8563583	50565400	13238	16854											
MYO1F	4542	broad.mit.edu	37	19	8601203	8601203	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:8601203G>A	ENST00000338257.8	-	19	2243	c.1976C>T	c.(1975-1977)gCg>gTg	p.A659V		NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN	myosin IF	659	Myosin head-like.					unconventional myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						CATGTTGACCGCCCGAAGCAG	0.637													19	34					0	0	1	0	0	A	8601203	G	A	8601203	3	1	81	1	0	0	0	0	1	0	0	0	10121	1087	38	1	1360	1	MYO1F	19	8601203	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	37620	8601203	50527780	13239	16855											
MYO1F	4542	broad.mit.edu	37	19	8606809	8606809	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:8606809G>T	ENST00000338257.8	-	15	1858	c.1591C>A	c.(1591-1593)Ctg>Atg	p.L531M		NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN	myosin IF	531	Myosin head-like.					unconventional myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						GTCTGCATCAGCTCTATGAGG	0.617													7	56					0.00448238	0.00470627	1	1	0	T	8606809	G	T	8606809	3	4	81	1	0	0	0	0	1	0	0	0	10121	962	34	4	1761	4	MYO1F	19	8606809	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	5606	8606809	50522174	13240	16856											
MYO1F	4542	broad.mit.edu	37	19	8619587	8619587	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:8619587T>C	ENST00000338257.8	-	3	449	c.182A>G	c.(181-183)aAg>aGg	p.K61R		NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN	myosin IF	61	Myosin head-like.					unconventional myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						GGGCATCTGCTTGAAGGGGTT	0.607													6	73					0	0	1	0	0	C	8619587	T	C	8619587	3	2	81	1	0	0	0	0	1	0	0	0	10121	1609	56	3	3218	3	MYO1F	19	8619587	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	12778	8619587	50509396	13241	16857											
ADAMTS10	81794	broad.mit.edu	37	19	8651767	8651767	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:8651767G>A	ENST00000270328.4	-	18	2438	c.2172C>T	c.(2170-2172)gtC>gtT	p.V724V	ADAMTS10_ENST00000595838.1_Silent_p.V211V|ADAMTS10_ENST00000597188.1_Silent_p.V724V			Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 10	724	Spacer.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						GAATCCAGACGACATCCTCGT	0.572											OREG0025221	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	25	37					0	0	1	0	0	A	8651767	G	A	8651767	2	1	81	1	0	0	0	0	0	0	0	1	255	1045	37	1		1	ADAMTS10	19	8651767	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	32180	8651767	50477216	13242	16858	82	2									
ADAMTS10	81794	broad.mit.edu	37	19	8651776	8651776	+	Silent	SNP	G	G	A	rs141517207	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:8651776G>A	ENST00000270328.4	-	18	2429	c.2163C>T	c.(2161-2163)taC>taT	p.Y721Y	ADAMTS10_ENST00000595838.1_Silent_p.Y208Y|ADAMTS10_ENST00000597188.1_Silent_p.Y721Y			Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 10	721	Spacer.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						CGACATCCTCGTACCCTGAAC	0.557											OREG0025221	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	24	30					0	0	1	0	0	A	8651776	G	A	8651776	2	1	81	1	0	0	0	0	0	0	0	1	255	1140	40	1		1	ADAMTS10	19	8651776	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	9	8651776	50477207	13243	16859	82	2									
ADAMTS10	81794	broad.mit.edu	37	19	8666003	8666003	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:8666003A>G	ENST00000270328.4	-	5	885	c.619T>C	c.(619-621)Tgg>Cgg	p.W207R	ADAMTS10_ENST00000597188.1_Missense_Mutation_p.W207R|ADAMTS10_ENST00000596709.1_5'UTR			Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 10	207					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						CGCAGCCACCATGGCCGCCCT	0.627													12	29					0	0	1	0	0	G	8666003	A	G	8666003	3	3	81	1	0	0	0	0	1	0	0	0	255	217	8	3	2776	3	ADAMTS10	19	8666003	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	14227	8666003	50462980	13244	16860											
ZNF558	148156	broad.mit.edu	37	19	8922631	8922631	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:8922631G>T	ENST00000601372.1	-	10	1246	c.535C>A	c.(535-537)Ccc>Acc	p.P179T	ZNF558_ENST00000444186.2_Missense_Mutation_p.P108T|ZNF558_ENST00000301475.1_Missense_Mutation_p.P179T			Q96NG5	ZN558_HUMAN	zinc finger protein 558	179					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	15						CAGTCATAGGGTTTTTCTCCA	0.383													33	34					1.74807e-11	2.16744e-11	1	1	0	T	8922631	G	T	8922631	3	4	81	1	0	0	0	0	1	0	0	0	18046	1261	44	5	677	5	ZNF558	19	8922631	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	256628	8922631	50206352	13245	16861											
ZNF558	148156	broad.mit.edu	37	19	8933396	8933396	+	Translation_Start_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:8933396G>T	ENST00000601372.1	-	0	651				ZNF558_ENST00000599938.1_5'UTR|CTD-2529P6.3_ENST00000594006.1_RNA|ZNF558_ENST00000301475.1_De_novo_Start_OutOfFrame			Q96NG5	ZN558_HUMAN	zinc finger protein 558						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	15						TTATCCCGCAGCGCTCTGGAA	0.627													11	12					5.50884e-06	6.24461e-06	1	1	0	T	8933396	G	T	8933396	1	4	81	1	0	0	0	0	0	0	0	0	18046	986	34	4		4	ZNF558	19	8933396	Translation_Start_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	10765	8933396	50195587	13246	16862											
MUC16	94025	broad.mit.edu	37	19	9016986	9016986	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:9016986C>A	ENST00000397910.4	-	27	38212	c.38009G>T	c.(38008-38010)aGc>aTc	p.S12670I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12672					cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.S12670N(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTCACTGCTGCTGGTGGGCAC	0.532													8	38					0.00307968	0.00324365	1	1	0	A	9016986	C	A	9016986	3	1	81	1	0	0	0	0	1	0	0	0	10021	797	28	4	5746	4	MUC16	19	9016986	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	83590	9016986	50111997	13247	16863											
MUC16	94025	broad.mit.edu	37	19	9021062	9021062	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:9021062G>A	ENST00000397910.4	-	19	37464	c.37261C>T	c.(37261-37263)Cag>Tag	p.Q12421*		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12423	SEA 3.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ACCAGACCCTGCAGGACCCTC	0.547													8	92					0	0	1	0	0	A	9021062	G	A	9021062	4	1	81	1	0	0	0	0	0	1	0	0	10021	1328	46	2	6526	2	MUC16	19	9021062	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	4076	9021062	50107921	13248	16864											
MUC16	94025	broad.mit.edu	37	19	9024862	9024862	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:9024862G>A	ENST00000397910.4	-	16	37203	c.37000C>T	c.(37000-37002)Ccc>Tcc	p.P12334S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12336	SEA 2.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGGGTGTAGGGGCCCAGCTCT	0.532													70	80					0	0	1	0	0	A	9024862	G	A	9024862	3	1	81	1	0	0	0	0	1	0	0	0	10021	1232	43	2	6799	2	MUC16	19	9024862	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	3800	9024862	50104121	13249	16865											
MUC16	94025	broad.mit.edu	37	19	9045923	9045923	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:9045923G>T	ENST00000397910.4	-	5	35911	c.35708C>A	c.(35707-35709)tCc>tAc	p.S11903Y		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11905	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGAGGCACTGGAAAGCCCAGA	0.502													30	83					3.99451e-17	5.14651e-17	1	1	0	T	9045923	G	T	9045923	3	4	81	1	0	0	0	0	1	0	0	0	10021	1174	41	5	8135	5	MUC16	19	9045923	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	21061	9045923	50083060	13250	16866	83	2									
MUC16	94025	broad.mit.edu	37	19	9045932	9045932	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:9045932G>T	ENST00000397910.4	-	5	35902	c.35699C>A	c.(35698-35700)tCt>tAt	p.S11900Y		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11902	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.S11900F(1)|p.S7533F(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGAAAGCCCAGAGACAGCAGG	0.502													12	101					0.0135373	0.014045	1	1	0	T	9045932	G	T	9045932	3	4	81	1	0	0	0	0	1	0	0	0	10021	942	33	4	8144	4	MUC16	19	9045932	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	9	9045932	50083051	13251	16867	83	2									
MUC16	94025	broad.mit.edu	37	19	9049446	9049446	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:9049446C>A	ENST00000397910.4	-	5	32388	c.32185G>T	c.(32185-32187)Gtc>Ttc	p.V10729F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10731	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CCAGGTGAGACAGTCATAATT	0.458													68	132					1.85257e-25	2.45188e-25	1	1	0	A	9049446	C	A	9049446	3	1	81	1	0	0	0	0	1	0	0	0	10021	478	17	5	11658	5	MUC16	19	9049446	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3514	9049446	50079537	13252	16868											
MUC16	94025	broad.mit.edu	37	19	9057153	9057153	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:9057153G>A	ENST00000397910.4	-	3	30496	c.30293C>T	c.(30292-30294)cCt>cTt	p.P10098L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10100	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GCTTGAAGAAGGATGAATTTT	0.463													6	76					0	0	1	0	0	A	9057153	G	A	9057153	3	1	81	1	0	0	0	0	1	0	0	0	10021	1000	35	2	13558	2	MUC16	19	9057153	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	7707	9057153	50071830	13253	16869											
MUC16	94025	broad.mit.edu	37	19	9058224	9058224	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:9058224G>T	ENST00000397910.4	-	3	29425	c.29222C>A	c.(29221-29223)cCt>cAt	p.P9741H		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9743	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGAGGACACAGGAGAAAGTGA	0.498													4	29					1.024e-07	1.20612e-07	1	1	0	T	9058224	G	T	9058224	3	4	81	1	0	0	0	0	1	0	0	0	10021	1000	35	4	14629	4	MUC16	19	9058224	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1071	9058224	50070759	13254	16870											
MUC16	94025	broad.mit.edu	37	19	9066603	9066603	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:9066603G>A	ENST00000397910.4	-	3	21046	c.20843C>T	c.(20842-20844)tCc>tTc	p.S6948F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6950	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.S6948F(2)|p.S2581F(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGGAGTCAAGGAATATGTTGA	0.448													66	121					0	0	1	0	0	A	9066603	G	A	9066603	3	1	81	1	0	0	0	0	1	0	0	0	10021	1174	41	2	23008	2	MUC16	19	9066603	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	8379	9066603	50062380	13255	16871											
MUC16	94025	broad.mit.edu	37	19	9066667	9066667	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:9066667T>C	ENST00000397910.4	-	3	20982	c.20779A>G	c.(20779-20781)Act>Gct	p.T6927A		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6929	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTGGAAACAGTTGTATGCCCC	0.468													125	167					0	0	1	0	0	C	9066667	T	C	9066667	3	2	81	1	0	0	0	0	1	0	0	0	10021	1725	60	3	23072	3	MUC16	19	9066667	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	64	9066667	50062316	13256	16872											
MUC16	94025	broad.mit.edu	37	19	9067202	9067202	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:9067202C>A	ENST00000397910.4	-	3	20447	c.20244G>T	c.(20242-20244)caG>caT	p.Q6748H		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6750	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TAAATGTGCCCTGTGATGTAG	0.493													22	238					6.44725e-10	7.84582e-10	1	1	0	A	9067202	C	A	9067202	3	1	81	1	0	0	0	0	1	0	0	0	10021	680	24	4	23607	4	MUC16	19	9067202	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	535	9067202	50061781	13257	16873											
MUC16	94025	broad.mit.edu	37	19	9072095	9072095	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:9072095A>C	ENST00000397910.4	-	3	15554	c.15351T>G	c.(15349-15351)atT>atG	p.I5117M		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5119	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TAGAAGGAAAAATTTCCTTTG	0.453													11	77					0	0	1	0	0	C	9072095	A	C	9072095	3	2	81	1	0	0	0	0	1	0	0	0	10021	10	1	5	28500	5	MUC16	19	9072095	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	4893	9072095	50056888	13258	16874											
MUC16	94025	broad.mit.edu	37	19	9074008	9074008	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:9074008C>T	ENST00000397910.4	-	3	13641	c.13438G>A	c.(13438-13440)Gtt>Att	p.V4480I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4482	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTCGCAGAAACAGGAGAGGAT	0.468													10	76					0	0	1	0	0	T	9074008	C	T	9074008	3	4	81	1	0	0	0	0	1	0	0	0	10021	478	17	2	30413	2	MUC16	19	9074008	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1913	9074008	50054975	13259	16875											
MUC16	94025	broad.mit.edu	37	19	9086021	9086021	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:9086021T>C	ENST00000397910.4	-	1	5997	c.5794A>G	c.(5794-5796)Ata>Gta	p.I1932V		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1932	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTTAAGCTTATGGCCCTGTTT	0.483													4	43					0	0	1	0	0	C	9086021	T	C	9086021	3	2	81	1	0	0	0	0	1	0	0	0	10021	1464	51	3	38065	3	MUC16	19	9086021	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	12013	9086021	50042962	13260	16876											
MUC16	94025	broad.mit.edu	37	19	9086385	9086385	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:9086385T>C	ENST00000397910.4	-	1	5633	c.5430A>G	c.(5428-5430)aaA>aaG	p.K1810K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1810	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CAGTTCTGAGTTTTTCTTTTC	0.463													37	53					0	0	1	0	0	C	9086385	T	C	9086385	2	2	81	1	0	0	0	0	0	0	0	1	10021	1722	60	3		3	MUC16	19	9086385	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	364	9086385	50042598	13261	16877											
MUC16	94025	broad.mit.edu	37	19	9088125	9088125	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:9088125C>A	ENST00000397910.4	-	1	3893	c.3690G>T	c.(3688-3690)gaG>gaT	p.E1230D		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1230	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTTCTGATGCCTCCAATGATG	0.517													18	296					5.3912e-06	6.11892e-06	1	1	0	A	9088125	C	A	9088125	3	1	81	1	0	0	0	0	1	0	0	0	10021	680	24	4	40169	4	MUC16	19	9088125	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1740	9088125	50040858	13262	16878											
MUC16	94025	broad.mit.edu	37	19	9089734	9089734	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:9089734G>A	ENST00000397910.4	-	1	2284	c.2081C>T	c.(2080-2082)aCc>aTc	p.T694I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	694	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TCCCAGGCTGGTTCCTTCCCT	0.498													28	53					0	0	1	0	0	A	9089734	G	A	9089734	3	1	81	1	0	0	0	0	1	0	0	0	10021	1261	44	2	41778	2	MUC16	19	9089734	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1609	9089734	50039249	13263	16879											
OR1M1	125963	broad.mit.edu	37	19	9204427	9204427	+	Silent	SNP	C	C	T	rs143401934	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:9204427C>T	ENST00000429566.3	+	1	573	c.507C>T	c.(505-507)tgC>tgT	p.C169C		NM_001004456.1	NP_001004456.1	Q8NGA1	OR1M1_HUMAN	olfactory receptor, family 1, subfamily M, member 1	169					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|large_intestine(3)|lung(17)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						TCGTTTTCTGCGGCAGCCATG	0.577													32	41					0	0	1	0	0	T	9204427	C	T	9204427	2	4	81	1	0	0	0	0	0	0	0	1	11016	776	27	1		1	OR1M1	19	9204427	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	114693	9204427	49924556	13264	16880											
OR1M1	125963	broad.mit.edu	37	19	9204457	9204457	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:9204457C>T	ENST00000429566.3	+	1	603	c.537C>T	c.(535-537)tgC>tgT	p.C179C		NM_001004456.1	NP_001004456.1	Q8NGA1	OR1M1_HUMAN	olfactory receptor, family 1, subfamily M, member 1	179					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.C179C(1)		breast(1)|endometrium(4)|large_intestine(3)|lung(17)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						ACTACTTCTGCGACCTCACTC	0.562													31	53					0	0	1	0	0	T	9204457	C	T	9204457	2	4	81	1	0	0	0	0	0	0	0	1	11016	776	27	1		1	OR1M1	19	9204457	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	30	9204457	49924526	13265	16881											
OR1M1	125963	broad.mit.edu	37	19	9204585	9204585	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:9204585T>C	ENST00000429566.3	+	1	731	c.665T>C	c.(664-666)cTt>cCt	p.L222P		NM_001004456.1	NP_001004456.1	Q8NGA1	OR1M1_HUMAN	olfactory receptor, family 1, subfamily M, member 1	222					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|large_intestine(3)|lung(17)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						GCTCGCATCCTTGTGGCCATC	0.567													15	86					0	0	1	0	0	C	9204585	T	C	9204585	3	2	81	1	0	0	0	0	1	0	0	0	11016	1609	56	3	667	3	OR1M1	19	9204585	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	128	9204585	49924398	13266	16882											
ZNF317	57693	broad.mit.edu	37	19	9270912	9270912	+	Silent	SNP	C	C	T	rs144830860		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:9270912C>T	ENST00000247956.6	+	7	896	c.591C>T	c.(589-591)cgC>cgT	p.R197R	ZNF317_ENST00000360385.3_Silent_p.R165R	NM_020933.4	NP_065984.3	Q96PQ6	ZN317_HUMAN	zinc finger protein 317	197					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	27						ATCACCGCCGCGACTATGGGG	0.542													8	16					0	0	1	0	0	T	9270912	C	T	9270912	2	4	81	1	0	0	0	0	0	0	0	1	17892	755	27	1		1	ZNF317	19	9270912	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	66327	9270912	49858071	13267	16883											
ZNF317	57693	broad.mit.edu	37	19	9271665	9271665	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:9271665C>T	ENST00000247956.6	+	7	1649	c.1344C>T	c.(1342-1344)tgC>tgT	p.C448C	ZNF317_ENST00000360385.3_Silent_p.C416C	NM_020933.4	NP_065984.3	Q96PQ6	ZN317_HUMAN	zinc finger protein 317	448					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	27						CATACGGGTGCGATCTCTGCG	0.547													13	19					0	0	1	0	0	T	9271665	C	T	9271665	2	4	81	1	0	0	0	0	0	0	0	1	17892	776	27	1		1	ZNF317	19	9271665	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	753	9271665	49857318	13268	16884											
OR7D2	162998	broad.mit.edu	37	19	9297234	9297234	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:9297234C>T	ENST00000344248.2	+	1	956	c.777C>T	c.(775-777)caC>caT	p.H259H		NM_175883.2	NP_787079.1	Q96RA2	OR7D2_HUMAN	olfactory receptor, family 7, subfamily D, member 2	259					regulation of transcription, DNA-dependent|sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	20						TTGGGGTCCACTTCACTTCTG	0.512													34	48					0	0	1	0	0	T	9297234	C	T	9297234	2	4	81	1	0	0	0	0	0	0	0	1	11266	564	20	2		2	OR7D2	19	9297234	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	25569	9297234	49831749	13269	16885											
OR7E24	26648	broad.mit.edu	37	19	9361936	9361936	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:9361936C>A	ENST00000456448.1	+	1	331	c.217C>A	c.(217-219)Ctc>Atc	p.L73I		NM_001079935.1	NP_001073404.1	Q6IFN5	O7E24_HUMAN	olfactory receptor, family 7, subfamily E, member 24	73					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)	16						TGACTCCCACCTCCACACCCC	0.572													8	36					2.17888e-05	2.43576e-05	1	1	0	A	9361936	C	A	9361936	3	1	81	1	0	0	0	0	1	0	0	0	11268	681	24	4	219	4	OR7E24	19	9361936	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	64702	9361936	49767047	13270	16886											
OR7E24	26648	broad.mit.edu	37	19	9362594	9362594	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:9362594C>A	ENST00000456448.1	+	1	989	c.875C>A	c.(874-876)gCt>gAt	p.A292D		NM_001079935.1	NP_001073404.1	Q6IFN5	O7E24_HUMAN	olfactory receptor, family 7, subfamily E, member 24	292					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)	16						AGTATGGTGGCTTCAGTGATG	0.517													22	18					2.39556e-15	3.05451e-15	1	1	0	A	9362594	C	A	9362594	3	1	81	1	0	0	0	0	1	0	0	0	11268	797	28	4	877	4	OR7E24	19	9362594	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	658	9362594	49766389	13271	16887											
ZNF559	84527	broad.mit.edu	37	19	9452651	9452651	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:9452651G>A	ENST00000393883.2	+	6	1172	c.524G>A	c.(523-525)tGc>tAc	p.C175Y	ZNF559_ENST00000603380.1_Missense_Mutation_p.C175Y|ZNF177_ENST00000541595.2_Intron|ZNF177_ENST00000602738.1_Intron|ZNF177_ENST00000602856.1_Intron|ZNF559_ENST00000592896.1_3'UTR|ZNF559_ENST00000592504.1_3'UTR|ZNF559_ENST00000317221.7_3'UTR|ZNF559_ENST00000587557.1_Missense_Mutation_p.C239Y|ZNF559_ENST00000585352.1_3'UTR|ZNF559_ENST00000538743.1_Missense_Mutation_p.C95Y|ZNF559_ENST00000586255.1_Intron|ZNF177_ENST00000446085.4_Intron|ZNF177_ENST00000605471.1_Intron	NM_001202412.1	NP_001189341.1	Q9BR84	ZN559_HUMAN	zinc finger protein 559	175					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|large_intestine(7)|lung(15)|ovary(1)|urinary_tract(1)	26						CATCTTGTTTGCAAGAAAACT	0.388													6	156					0	0	1	0	0	A	9452651	G	A	9452651	3	1	81	1	0	0	0	0	1	0	0	0	18047	1319	46	2	538	2	ZNF559	19	9452651	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	90057	9452651	49676332	13272	16888											
ZNF559	84527	broad.mit.edu	37	19	9453292	9453292	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:9453292G>A	ENST00000393883.2	+	6	1813	c.1165G>A	c.(1165-1167)Gcc>Acc	p.A389T	ZNF559_ENST00000603380.1_Missense_Mutation_p.A389T|ZNF177_ENST00000541595.2_Intron|ZNF177_ENST00000602738.1_Intron|ZNF177_ENST00000602856.1_Intron|ZNF559_ENST00000317221.7_3'UTR|ZNF559_ENST00000587557.1_Missense_Mutation_p.A453T|ZNF559_ENST00000538743.1_Missense_Mutation_p.A309T|ZNF559_ENST00000586255.1_Intron|ZNF177_ENST00000446085.4_Intron|ZNF177_ENST00000605471.1_Intron	NM_001202412.1	NP_001189341.1	Q9BR84	ZN559_HUMAN	zinc finger protein 559	389					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|large_intestine(7)|lung(15)|ovary(1)|urinary_tract(1)	26						ATGTGGAAAAGCCTTTATTAA	0.403													30	51					0	0	1	0	0	A	9453292	G	A	9453292	3	1	81	1	0	0	0	0	1	0	0	0	18047	971	34	2	1179	2	ZNF559	19	9453292	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	641	9453292	49675691	13273	16889											
ZNF177	7730	broad.mit.edu	37	19	9492206	9492206	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:9492206A>G	ENST00000541595.2	+	12	1348	c.719A>G	c.(718-720)cAg>cGg	p.Q240R	ZNF177_ENST00000343499.4_Missense_Mutation_p.Q240R|ZNF177_ENST00000589262.1_Missense_Mutation_p.Q400R|ZNF177_ENST00000602738.1_Missense_Mutation_p.Q240R|ZNF177_ENST00000434737.2_Missense_Mutation_p.Q400R|ZNF177_ENST00000602856.1_3'UTR|ZNF177_ENST00000590616.1_Intron|ZNF177_ENST00000446085.4_3'UTR	NM_001172650.2	NP_001166121.1	Q13360	ZN177_HUMAN	zinc finger protein 177	240					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|stomach(2)	13						GAGTGTAACCAGTGTGGAAAG	0.458													11	136					0	0	1	0	0	G	9492206	A	G	9492206	3	3	81	1	0	0	0	0	1	0	0	0	17804	188	7	3	1217	3	ZNF177	19	9492206	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	38914	9492206	49636777	13274	16890											
ZNF266	10781	broad.mit.edu	37	19	9523993	9523993	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:9523993T>C	ENST00000592904.1	-	5	3684	c.1608A>G	c.(1606-1608)cgA>cgG	p.R536R	ZNF266_ENST00000590306.1_Silent_p.R536R|ZNF266_ENST00000592292.1_Silent_p.R536R|ZNF266_ENST00000588221.1_Silent_p.R536R|ZNF266_ENST00000361151.1_Silent_p.R536R|ZNF266_ENST00000361451.2_Silent_p.R536R|ZNF266_ENST00000588933.1_Silent_p.R536R			Q14584	ZN266_HUMAN	zinc finger protein 266	536					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(2)|large_intestine(11)|lung(8)|ovary(1)|skin(2)|stomach(1)	28						TTTCATGATTTCGAAAGGAAC	0.443													29	49					0	0	1	0	0	C	9523993	T	C	9523993	2	2	81	1	0	0	0	0	0	0	0	1	17863	1770	62	3		3	ZNF266	19	9523993	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	31787	9523993	49604990	13275	16891											
ZNF266	10781	broad.mit.edu	37	19	9524262	9524262	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:9524262G>A	ENST00000592904.1	-	5	3415	c.1339C>T	c.(1339-1341)Cat>Tat	p.H447Y	ZNF266_ENST00000590306.1_Missense_Mutation_p.H447Y|ZNF266_ENST00000592292.1_Missense_Mutation_p.H447Y|ZNF266_ENST00000588221.1_Missense_Mutation_p.H447Y|ZNF266_ENST00000361151.1_Missense_Mutation_p.H447Y|ZNF266_ENST00000361451.2_Missense_Mutation_p.H447Y|ZNF266_ENST00000588933.1_Missense_Mutation_p.H447Y			Q14584	ZN266_HUMAN	zinc finger protein 266	447					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(2)|large_intestine(11)|lung(8)|ovary(1)|skin(2)|stomach(1)	28						CTGGAGGAATGCGTAAATGCT	0.428													14	31					0	0	1	0	0	A	9524262	G	A	9524262	3	1	81	1	0	0	0	0	1	0	0	0	17863	1319	46	2	314	2	ZNF266	19	9524262	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	269	9524262	49604721	13276	16892											
ZNF266	10781	broad.mit.edu	37	19	9524768	9524768	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:9524768G>A	ENST00000592904.1	-	5	2909	c.833C>T	c.(832-834)aCt>aTt	p.T278I	ZNF266_ENST00000590306.1_Missense_Mutation_p.T278I|ZNF266_ENST00000592292.1_Missense_Mutation_p.T278I|ZNF266_ENST00000588221.1_Missense_Mutation_p.T278I|ZNF266_ENST00000361151.1_Missense_Mutation_p.T278I|ZNF266_ENST00000361451.2_Missense_Mutation_p.T278I|ZNF266_ENST00000588933.1_Missense_Mutation_p.T278I			Q14584	ZN266_HUMAN	zinc finger protein 266	278					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(2)|large_intestine(11)|lung(8)|ovary(1)|skin(2)|stomach(1)	28						AGAGGAAACAGTGAAGGCTCT	0.423													32	50					0	0	1	0	0	A	9524768	G	A	9524768	3	1	81	1	0	0	0	0	1	0	0	0	17863	1029	36	2	820	2	ZNF266	19	9524768	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	506	9524768	49604215	13277	16893											
ZNF266	10781	broad.mit.edu	37	19	9525241	9525241	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:9525241C>A	ENST00000592904.1	-	5	2436	c.360G>T	c.(358-360)aaG>aaT	p.K120N	ZNF266_ENST00000590306.1_Missense_Mutation_p.K120N|ZNF266_ENST00000592292.1_Missense_Mutation_p.K120N|ZNF266_ENST00000588221.1_Missense_Mutation_p.K120N|ZNF266_ENST00000361151.1_Missense_Mutation_p.K120N|ZNF266_ENST00000361451.2_Missense_Mutation_p.K120N|ZNF266_ENST00000588933.1_Missense_Mutation_p.K120N			Q14584	ZN266_HUMAN	zinc finger protein 266	120					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(2)|large_intestine(11)|lung(8)|ovary(1)|skin(2)|stomach(1)	28						TAGAGGTTTTCTTGTGCAGAG	0.438													15	115					2.32078e-09	2.80257e-09	1	1	0	A	9525241	C	A	9525241	3	1	81	1	0	0	0	0	1	0	0	0	17863	912	32	4	1293	4	ZNF266	19	9525241	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	473	9525241	49603742	13278	16894											
ZNF266	10781	broad.mit.edu	37	19	9525366	9525366	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:9525366C>A	ENST00000592904.1	-	5	2311	c.235G>T	c.(235-237)Gat>Tat	p.D79Y	ZNF266_ENST00000590306.1_Missense_Mutation_p.D79Y|ZNF266_ENST00000592292.1_Missense_Mutation_p.D79Y|ZNF266_ENST00000588221.1_Missense_Mutation_p.D79Y|ZNF266_ENST00000361151.1_Missense_Mutation_p.D79Y|ZNF266_ENST00000361451.2_Missense_Mutation_p.D79Y|ZNF266_ENST00000588933.1_Missense_Mutation_p.D79Y			Q14584	ZN266_HUMAN	zinc finger protein 266	79					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(2)|large_intestine(11)|lung(8)|ovary(1)|skin(2)|stomach(1)	28						TGCTTAACATCACTGACCTCC	0.408													34	53					8.53417e-09	1.02079e-08	1	1	0	A	9525366	C	A	9525366	3	1	81	1	0	0	0	0	1	0	0	0	17863	826	29	5	1418	5	ZNF266	19	9525366	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	125	9525366	49603617	13279	16895											
ZNF560	147741	broad.mit.edu	37	19	9578110	9578110	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:9578110C>T	ENST00000301480.4	-	10	1726	c.1513G>A	c.(1513-1515)Gct>Act	p.A505T		NM_152476.2	NP_689689.2	Q96MR9	ZN560_HUMAN	zinc finger protein 560	505					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						CTCAAATGAGCAAAAAGAGAT	0.408													51	78					0	0	1	0	0	T	9578110	C	T	9578110	3	4	81	1	0	0	0	0	1	0	0	0	18048	710	25	2	863	2	ZNF560	19	9578110	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	52744	9578110	49550873	13280	16896											
ZNF560	147741	broad.mit.edu	37	19	9578926	9578926	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:9578926T>C	ENST00000301480.4	-	10	910	c.697A>G	c.(697-699)Atg>Gtg	p.M233V		NM_152476.2	NP_689689.2	Q96MR9	ZN560_HUMAN	zinc finger protein 560	233					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						TGAGTACTCATGTTGGTCTTA	0.378													8	85					0	0	1	0	0	C	9578926	T	C	9578926	3	2	81	1	0	0	0	0	1	0	0	0	18048	1464	51	3	1679	3	ZNF560	19	9578926	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	816	9578926	49550057	13281	16897											
ZNF426	79088	broad.mit.edu	37	19	9639588	9639588	+	Missense_Mutation	SNP	C	C	T	rs143787580		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:9639588C>T	ENST00000593003.1	-	6	1496	c.1019G>A	c.(1018-1020)cGc>cAc	p.R340H	ZNF426_ENST00000253115.2_Missense_Mutation_p.R378H|ZNF426_ENST00000535489.1_Missense_Mutation_p.R378H			Q9BUY5	ZN426_HUMAN	zinc finger protein 426	378					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R378H(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	20						TTGAATAAGGCGTGAGGATGT	0.428													20	27					0	0	1	0	0	T	9639588	C	T	9639588	3	4	81	1	0	0	0	0	1	0	0	0	17957	768	27	1	535	1	ZNF426	19	9639588	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	60662	9639588	49489395	13282	16898											
ZNF426	79088	broad.mit.edu	37	19	9639635	9639635	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:9639635C>T	ENST00000593003.1	-	6	1449	c.972G>A	c.(970-972)aaG>aaA	p.K324K	ZNF426_ENST00000253115.2_Silent_p.K362K|ZNF426_ENST00000535489.1_Silent_p.K362K			Q9BUY5	ZN426_HUMAN	zinc finger protein 426	362					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	20						ATTCATAGGGCTTGTCTCCAC	0.443													18	35					0	0	1	0	0	T	9639635	C	T	9639635	2	4	81	1	0	0	0	0	0	0	0	1	17957	796	28	2		2	ZNF426	19	9639635	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	47	9639635	49489348	13283	16899											
ZNF121	7675	broad.mit.edu	37	19	9677073	9677073	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:9677073C>A	ENST00000586602.1	-	6	1132	c.716G>T	c.(715-717)aGg>aTg	p.R239M	ZNF121_ENST00000320451.6_Missense_Mutation_p.R239M			P58317	ZN121_HUMAN	zinc finger protein 121	239					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|kidney(4)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)	24						TAGATAAAACCTATTGTAGGC	0.428													5	99					0.184627	0.18622	1	1	0	A	9677073	C	A	9677073	3	1	81	1	0	0	0	0	1	0	0	0	17777	681	24	4	460	4	ZNF121	19	9677073	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	37438	9677073	49451910	13284	16900											
ZNF121	7675	broad.mit.edu	37	19	9677208	9677208	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:9677208T>C	ENST00000586602.1	-	6	997	c.581A>G	c.(580-582)cAt>cGt	p.H194R	ZNF121_ENST00000320451.6_Missense_Mutation_p.H194R			P58317	ZN121_HUMAN	zinc finger protein 121	194					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.H194L(1)		breast(3)|kidney(4)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)	24						CTCTCCAGTATGAATTCTTAC	0.448													5	62					0	0	1	0	0	C	9677208	T	C	9677208	3	2	81	1	0	0	0	0	1	0	0	0	17777	1464	51	3	595	3	ZNF121	19	9677208	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	135	9677208	49451775	13285	16901											
ZNF562	54811	broad.mit.edu	37	19	9763660	9763660	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:9763660T>C	ENST00000448622.1	-	6	1408	c.1246A>G	c.(1246-1248)Agt>Ggt	p.S416G	ZNF562_ENST00000453372.2_Missense_Mutation_p.S416G|ZNF562_ENST00000541032.1_Missense_Mutation_p.S379G|ZNF562_ENST00000293648.4_Missense_Mutation_p.S344G|ZNF562_ENST00000453792.2_Missense_Mutation_p.S347G|ZNF562_ENST00000537617.1_Missense_Mutation_p.S300G|ZNF562_ENST00000590155.1_Missense_Mutation_p.S415G	NM_001130031.1|NM_001130032.1	NP_001123503.1|NP_001123504.1	Q6V9R5	ZN562_HUMAN	zinc finger protein 562	416					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	17						AAATGTTTACTACGATGGGAA	0.403													18	39					0	0	1	0	0	C	9763660	T	C	9763660	3	2	81	1	0	0	0	0	1	0	0	0	18050	1522	53	3	38	3	ZNF562	19	9763660	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	86452	9763660	49365323	13286	16902											
ZNF562	54811	broad.mit.edu	37	19	9764264	9764264	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:9764264C>A	ENST00000448622.1	-	6	804	c.642G>T	c.(640-642)aaG>aaT	p.K214N	ZNF562_ENST00000453372.2_Missense_Mutation_p.K214N|ZNF562_ENST00000541032.1_Missense_Mutation_p.K177N|ZNF562_ENST00000293648.4_Missense_Mutation_p.K142N|ZNF562_ENST00000453792.2_Missense_Mutation_p.K145N|ZNF562_ENST00000537617.1_Missense_Mutation_p.K98N|ZNF562_ENST00000590155.1_Missense_Mutation_p.K213N	NM_001130031.1|NM_001130032.1	NP_001123503.1|NP_001123504.1	Q6V9R5	ZN562_HUMAN	zinc finger protein 562	214					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	17						TTGCAAAATACTTAAAGCCTT	0.408													16	47					3.45872e-05	3.85959e-05	1	1	0	A	9764264	C	A	9764264	3	1	81	1	0	0	0	0	1	0	0	0	18050	564	20	4	642	4	ZNF562	19	9764264	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	604	9764264	49364719	13287	16903											
UBL5	59286	broad.mit.edu	37	19	9939539	9939539	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:9939539C>A	ENST00000358666.3	+	4	351	c.167C>A	c.(166-168)tCt>tAt	p.S56Y	UBL5_ENST00000590068.1_Missense_Mutation_p.S56Y|UBL5_ENST00000586895.1_Missense_Mutation_p.S56Y|UBL5_ENST00000593087.1_Missense_Mutation_p.L27I|UBL5_ENST00000589960.1_Intron	NM_024292.3	NP_077268.1	Q9BZL1	UBL5_HUMAN	ubiquitin-like 5	56	Ubiquitin-like.					cytoplasm				kidney(1)|lung(1)	2						GACCACGTGTCTCTGGGGGAC	0.438													36	99					1.89013e-27	2.51056e-27	1	1	0	A	9939539	C	A	9939539	3	1	81	1	0	0	0	0	1	0	0	0	16950	913	32	4	177	4	UBL5	19	9939539	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	175275	9939539	49189444	13288	16904											
OLFM2	93145	broad.mit.edu	37	19	9964942	9964942	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:9964942G>T	ENST00000264833.4	-	6	1470	c.1285C>A	c.(1285-1287)Ctc>Atc	p.L429I	OLFM2_ENST00000590841.1_Missense_Mutation_p.L351I	NM_058164.2	NP_477512.1	O95897	NOE2_HUMAN	olfactomedin 2	429	Olfactomedin-like.					extracellular region				breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	31						CAGGTATAGAGGGCGCGCTCC	0.567													6	58					2.0095e-06	2.30238e-06	1	1	0	T	9964942	G	T	9964942	3	4	81	1	0	0	0	0	1	0	0	0	10901	1000	35	4	83	4	OLFM2	19	9964942	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	25403	9964942	49164041	13289	16905											
COL5A3	50509	broad.mit.edu	37	19	10085059	10085059	+	Missense_Mutation	SNP	C	C	T	rs140683403		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:10085059C>T	ENST00000264828.3	-	46	3453	c.3368G>A	c.(3367-3369)cGg>cAg	p.R1123Q		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	1123	Triple-helical region.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			TGGGGGTCCCCGGCGCCCCTG	0.602													10	22					0	0	1	0	0	T	10085059	C	T	10085059	3	4	81	1	0	0	0	0	1	0	0	0	3721	652	23	1	1957	1	COL5A3	19	10085059	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	120117	10085059	49043924	13290	16906											
RDH8	50700	broad.mit.edu	37	19	10124164	10124164	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:10124164G>T	ENST00000591589.1	+	1	240	c.51G>T	c.(49-51)gaG>gaT	p.E17D	RDH8_ENST00000171214.1_5'UTR			Q9NYR8	RDH8_HUMAN	retinol dehydrogenase 8 (all-trans)	0					estrogen biosynthetic process|response to stimulus|visual perception	cytoplasm|integral to plasma membrane	binding|estradiol 17-beta-dehydrogenase activity|NADP-retinol dehydrogenase activity|retinol dehydrogenase activity			endometrium(3)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|prostate(1)	21			Epithelial(33;4.24e-05)		Vitamin A(DB00162)	AGTCCAGGGAGGGGATCAACA	0.612													6	44					5.18039e-06	5.88187e-06	1	1	0	T	10124164	G	T	10124164	3	4	81	1	0	0	0	0	1	0	0	0	13248	1015	35	4		4	RDH8	19	10124164	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	39105	10124164	49004819	13291	16907											
C19orf66	55337	broad.mit.edu	37	19	10200023	10200023	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:10200023A>G	ENST00000397881.3	+	3	488	c.11A>G	c.(10-12)cAt>cGt	p.H4R	C19orf66_ENST00000253110.11_Intron|C19orf66_ENST00000591813.1_Intron|CTD-2240E14.4_ENST00000589622.1_RNA			Q9NUL5	CS066_HUMAN	chromosome 19 open reading frame 66	0										large_intestine(3)|skin(1)	4						ATGTCACAACATCAACAAGCA	0.547													7	17					0	0	1	0	0	G	10200023	A	G	10200023	3	3	81	1	0	0	0	0	1	0	0	0	1958	232	8	3		3	C19orf66	19	10200023	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	75859	10200023	48928960	13292	16908											
ANGPTL6	83854	broad.mit.edu	37	19	10206720	10206720	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:10206720G>C	ENST00000253109.4	-	2	758	c.520C>G	c.(520-522)Cag>Gag	p.Q174E	ANGPTL6_ENST00000592641.1_Missense_Mutation_p.Q174E|ANGPTL6_ENST00000589181.1_Missense_Mutation_p.Q174E	NM_031917.2	NP_114123.2	Q8NI99	ANGL6_HUMAN	angiopoietin-like 6	174					angiogenesis|cell differentiation|signal transduction	extracellular space	receptor binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)	12			OV - Ovarian serous cystadenocarcinoma(20;3.58e-08)|Epithelial(33;2.5e-05)|all cancers(31;5.96e-05)			AGACTGCTCTGCTGGGTGACG	0.716													11	13					0	0	1	0	0	C	10206720	G	C	10206720	3	2	81	1	0	0	0	0	1	0	0	0	614	1328	46	5	912	5	ANGPTL6	19	10206720	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	6697	10206720	48922263	13293	16909											
DNMT1	1786	broad.mit.edu	37	19	10251517	10251517	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:10251517G>T	ENST00000340748.4	-	31	3650	c.3415C>A	c.(3415-3417)Ctg>Atg	p.L1139M	DNMT1_ENST00000540357.1_Missense_Mutation_p.L1139M|DNMT1_ENST00000359526.4_Missense_Mutation_p.L1155M|DNMT1_ENST00000589538.1_5'UTR			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1	1139	Catalytic.|Interaction with the PRC2/EED-EZH2 complex (By similarity).				chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding			breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)	AGGGTCCGCAGCTTGGGCAGC	0.612													33	60					2.19358e-23	2.88969e-23	1	1	0	T	10251517	G	T	10251517	3	4	81	1	0	0	0	0	1	0	0	0	4702	962	34	4	1475	4	DNMT1	19	10251517	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	44797	10251517	48877466	13294	16910											
DNMT1	1786	broad.mit.edu	37	19	10254557	10254557	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:10254557G>T	ENST00000340748.4	-	28	3188	c.2953C>A	c.(2953-2955)Ctg>Atg	p.L985M	DNMT1_ENST00000540357.1_Missense_Mutation_p.L985M|DNMT1_ENST00000359526.4_Missense_Mutation_p.L1001M|DNMT1_ENST00000589538.1_5'UTR			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1	985	BAH 2.				chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding			breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)	GGGGCATCCAGGTTGCTGCCT	0.562													34	198					1.36161e-19	1.77385e-19	1	1	0	T	10254557	G	T	10254557	3	4	81	1	0	0	0	0	1	0	0	0	4702	991	35	4	1949	4	DNMT1	19	10254557	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	3040	10254557	48874426	13295	16911											
DNMT1	1786	broad.mit.edu	37	19	10265644	10265644	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:10265644A>G	ENST00000340748.4	-	19	1768	c.1533T>C	c.(1531-1533)atT>atC	p.I511I	DNMT1_ENST00000540357.1_Silent_p.I511I|DNMT1_ENST00000359526.4_Silent_p.I527I			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1	511	DNA replication foci-targeting sequence (By similarity).|Interaction with the PRC2/EED-EZH2 complex (By similarity).				chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding			breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)	ACTCCACCACAATCTTGCTGA	0.512													34	43					0	0	1	0	0	G	10265644	A	G	10265644	2	3	81	1	0	0	0	0	0	0	0	1	4702	126	5	3		3	DNMT1	19	10265644	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	11087	10265644	48863339	13296	16912											
DNMT1	1786	broad.mit.edu	37	19	10265689	10265689	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:10265689C>T	ENST00000340748.4	-	19	1723	c.1488G>A	c.(1486-1488)gcG>gcA	p.A496A	DNMT1_ENST00000540357.1_Silent_p.A496A|DNMT1_ENST00000359526.4_Silent_p.A512A			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1	496	DNA replication foci-targeting sequence (By similarity).|Homodimerization.|Interaction with the PRC2/EED-EZH2 complex (By similarity).				chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding			breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)	CAAATATGGGCGCATACTCGG	0.517													22	44					0	0	1	0	0	T	10265689	C	T	10265689	2	4	81	1	0	0	0	0	0	0	0	1	4702	755	27	1		1	DNMT1	19	10265689	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	45	10265689	48863294	13297	16913											
DNMT1	1786	broad.mit.edu	37	19	10270410	10270410	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:10270410G>A	ENST00000340748.4	-	16	1391	c.1156C>T	c.(1156-1158)Ctg>Ttg	p.L386L	DNMT1_ENST00000540357.1_Silent_p.L386L|DNMT1_ENST00000359526.4_Silent_p.L402L			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1	386	DNA replication foci-targeting sequence (By similarity).|Homodimerization.|Interaction with the PRC2/EED-EZH2 complex (By similarity).				chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding			breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)	AAGATGGACAGCTTCTCATTT	0.542													32	49					0	0	1	0	0	A	10270410	G	A	10270410	2	1	81	1	0	0	0	0	0	0	0	1	4702	962	34	2		2	DNMT1	19	10270410	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	4721	10270410	48858573	13298	16914											
DNMT1	1786	broad.mit.edu	37	19	10277310	10277310	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:10277310G>A	ENST00000340748.4	-	10	1042	c.807C>T	c.(805-807)ggC>ggT	p.G269G	DNMT1_ENST00000540357.1_Silent_p.G269G|DNMT1_ENST00000359526.4_Silent_p.G285G			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1	269	Interaction with the PRC2/EED-EZH2 complex (By similarity).				chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding			breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)	CAGCCTGCACGCCTGCCCTGG	0.567													29	29					0	0	1	0	0	A	10277310	G	A	10277310	2	1	81	1	0	0	0	0	0	0	0	1	4702	1074	38	1		1	DNMT1	19	10277310	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	6900	10277310	48851673	13299	16915											
MRPL4	51073	broad.mit.edu	37	19	10369091	10369091	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:10369091C>T	ENST00000393733.2	+	7	582	c.555C>T	c.(553-555)gaC>gaT	p.D185D	MRPL4_ENST00000307422.5_Silent_p.D185D|MRPL4_ENST00000590669.1_Silent_p.D185D|MRPL4_ENST00000588502.1_Silent_p.D184D|CTD-2369P2.5_ENST00000592893.1_RNA|MRPL4_ENST00000253099.6_Silent_p.D185D			Q9BYD3	RM04_HUMAN	mitochondrial ribosomal protein L4	185					translation	mitochondrion|ribosome	structural constituent of ribosome			breast(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	11		Renal(1328;0.0112)	OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;1.99e-06)|all cancers(31;4.81e-06)	Lung(535;0.00705)		TCCACCAGGACGACCTGCACA	0.637													29	41					0	0	1	0	0	T	10369091	C	T	10369091	2	4	81	1	0	0	0	0	0	0	0	1	9852	535	19	1		1	MRPL4	19	10369091	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	91781	10369091	48759892	13300	16916											
ICAM1	3383	broad.mit.edu	37	19	10395205	10395205	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:10395205G>A	ENST00000264832.3	+	5	1377	c.1052G>A	c.(1051-1053)gGc>gAc	p.G351D	ICAM1_ENST00000423829.2_Missense_Mutation_p.G129D|CTD-2369P2.5_ENST00000592893.1_RNA	NM_000201.2	NP_000192.2	P05362	ICAM1_HUMAN	intercellular adhesion molecule 1	351	Ig-like C2-type 4.				adhesion to symbiont|heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking|positive regulation of cellular extravasation|regulation of immune response|regulation of leukocyte mediated cytotoxicity|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell|virion attachment, binding of host cell surface receptor	extracellular space|integral to plasma membrane	integrin binding|transmembrane receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;2.81e-06)|all cancers(31;6.56e-06)		Natalizumab(DB00108)|Simvastatin(DB00641)	CAGCCACTGGGCCCGAGGGCC	0.637													29	42					0	0	1	0	0	A	10395205	G	A	10395205	3	1	81	1	0	0	0	0	1	0	0	0	7523	1203	42	2	1070	2	ICAM1	19	10395205	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	26114	10395205	48733778	13301	16917											
ICAM4	3386	broad.mit.edu	37	19	10398513	10398513	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:10398513C>T	ENST00000380770.3	+	2	742	c.696C>T	c.(694-696)ctC>ctT	p.L232L	CTD-2369P2.8_ENST00000589379.1_RNA|ICAM4_ENST00000393717.2_Silent_p.L232L|ICAM4_ENST00000340992.4_Splice_Site_p.R207C	NM_001544.4	NP_001535.1	Q14773	ICAM4_HUMAN	intercellular adhesion molecule 4 (Landsteiner-Wiener blood group)	232					cell-cell adhesion|regulation of immune response	extracellular region|integral to membrane|plasma membrane	integrin binding			breast(1)|large_intestine(3)|lung(2)|pancreas(1)	7			OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)			CACTGATGCTCGGTGAGGCAC	0.652													47	58					0	0	1	0	0	T	10398513	C	T	10398513	5	4	81	1	0	0	0	0	0	0	1	0	7526	898	31	1	702	1	ICAM4	19	10398513	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3308	10398513	48730470	13302	16918											
ICAM5	7087	broad.mit.edu	37	19	10405101	10405101	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:10405101C>T	ENST00000221980.4	+	9	2078	c.2015C>T	c.(2014-2016)aCc>aTc	p.T672I		NM_003259.3	NP_003250.3	Q9UMF0	ICAM5_HUMAN	intercellular adhesion molecule 5, telencephalin	672	Ig-like C2-type 8.				cell-cell adhesion	integral to plasma membrane				breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)			GATGAATCTACCTGCCCAAGT	0.692													18	28					0	0	1	0	0	T	10405101	C	T	10405101	3	4	81	1	0	0	0	0	1	0	0	0	7527	507	18	2	2049	2	ICAM5	19	10405101	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	6588	10405101	48723882	13303	16919											
TYK2	7297	broad.mit.edu	37	19	10463181	10463181	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:10463181C>A	ENST00000525621.1	-	23	3728	c.3247G>T	c.(3247-3249)Gat>Tat	p.D1083Y	TYK2_ENST00000524462.1_Missense_Mutation_p.D898Y|TYK2_ENST00000529422.1_Intron|TYK2_ENST00000264818.6_Missense_Mutation_p.D1083Y	NM_003331.4	NP_003322.3	P29597	TYK2_HUMAN	tyrosine kinase 2	1083	Protein kinase 2.				intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			GACCAGACATCTGACGCATAG	0.647													43	57					2.64894e-19	3.4477e-19	1	1	0	A	10463181	C	A	10463181	3	1	81	1	0	0	0	0	1	0	0	0	16872	913	32	4	328	4	TYK2	19	10463181	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	58080	10463181	48665802	13304	16920											
TYK2	7297	broad.mit.edu	37	19	10463722	10463722	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:10463722C>T	ENST00000525621.1	-	22	3561	c.3080G>A	c.(3079-3081)cGc>cAc	p.R1027H	TYK2_ENST00000524462.1_Missense_Mutation_p.R842H|TYK2_ENST00000529422.1_5'UTR|TYK2_ENST00000264818.6_Missense_Mutation_p.R1027H	NM_003331.4	NP_003322.3	P29597	TYK2_HUMAN	tyrosine kinase 2	1027	Protein kinase 2.				intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity	p.R1027H(1)		breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			CAGCACGTTGCGCGCGGCTAG	0.662													9	16					0	0	1	0	0	T	10463722	C	T	10463722	3	4	81	1	0	0	0	0	1	0	0	0	16872	768	27	1	499	1	TYK2	19	10463722	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	541	10463722	48665261	13305	16921											
TYK2	7297	broad.mit.edu	37	19	10465199	10465199	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:10465199C>A	ENST00000525621.1	-	19	3185	c.2704G>T	c.(2704-2706)Gat>Tat	p.D902Y	TYK2_ENST00000524462.1_Missense_Mutation_p.D717Y|TYK2_ENST00000264818.6_Missense_Mutation_p.D902Y	NM_003331.4	NP_003322.3	P29597	TYK2_HUMAN	tyrosine kinase 2	902	Protein kinase 2.				intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			TCGCCCAGATCTCGGATCTTT	0.552													10	48					2.27111e-07	2.65192e-07	1	1	0	A	10465199	C	A	10465199	3	1	81	1	0	0	0	0	1	0	0	0	16872	913	32	4	887	4	TYK2	19	10465199	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1477	10465199	48663784	13306	16922											
TYK2	7297	broad.mit.edu	37	19	10472565	10472565	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:10472565C>T	ENST00000525621.1	-	13	2321	c.1840G>A	c.(1840-1842)Ggg>Agg	p.G614R	TYK2_ENST00000524462.1_Missense_Mutation_p.G429R|TYK2_ENST00000529370.1_Missense_Mutation_p.G614R|TYK2_ENST00000264818.6_Missense_Mutation_p.G614R	NM_003331.4	NP_003322.3	P29597	TYK2_HUMAN	tyrosine kinase 2	614	Protein kinase 1.				intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			TCAGGGTCCCCGCTGCCCTCC	0.647													5	90					0	0	1	0	0	T	10472565	C	T	10472565	3	4	81	1	0	0	0	0	1	0	0	0	16872	652	23	1	1775	1	TYK2	19	10472565	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	7366	10472565	48656418	13307	16923											
CDC37	11140	broad.mit.edu	37	19	10502251	10502251	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:10502251G>A	ENST00000222005.2	-	8	1166	c.1113C>T	c.(1111-1113)ggC>ggT	p.G371G		NM_007065.3	NP_008996.1	Q16543	CDC37_HUMAN	cell division cycle 37	371					protein targeting|regulation of cyclin-dependent protein kinase activity|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway		unfolded protein binding	p.G371G(1)		breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	16			OV - Ovarian serous cystadenocarcinoma(20;4.65e-10)|Epithelial(33;6.48e-07)|all cancers(31;2.31e-06)	GBM - Glioblastoma multiforme(1328;0.0318)		CCTTCTCATCGCCCGTCTTGG	0.592											OREG0025234	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	42	52					0	0	1	0	0	A	10502251	G	A	10502251	2	1	81	1	0	0	0	0	0	0	0	1	3090	1074	38	1		1	CDC37	19	10502251	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	29686	10502251	48626732	13308	16924											
CDC37	11140	broad.mit.edu	37	19	10503785	10503785	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:10503785C>T	ENST00000222005.2	-	7	1011	c.958G>A	c.(958-960)Gcc>Acc	p.A320T		NM_007065.3	NP_008996.1	Q16543	CDC37_HUMAN	cell division cycle 37	320					protein targeting|regulation of cyclin-dependent protein kinase activity|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway		unfolded protein binding	p.A320T(1)		breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	16			OV - Ovarian serous cystadenocarcinoma(20;4.65e-10)|Epithelial(33;6.48e-07)|all cancers(31;2.31e-06)	GBM - Glioblastoma multiforme(1328;0.0318)		TTGCTGATGGCGTCCTGCAGC	0.662													4	44					0	0	1	0	0	T	10503785	C	T	10503785	3	4	81	1	0	0	0	0	1	0	0	0	3090	768	27	1	186	1	CDC37	19	10503785	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1534	10503785	48625198	13309	16925											
CDC37	11140	broad.mit.edu	37	19	10503942	10503942	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:10503942A>G	ENST00000222005.2	-	6	955	c.902T>C	c.(901-903)cTc>cCc	p.L301P		NM_007065.3	NP_008996.1	Q16543	CDC37_HUMAN	cell division cycle 37	301					protein targeting|regulation of cyclin-dependent protein kinase activity|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway		unfolded protein binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	16			OV - Ovarian serous cystadenocarcinoma(20;4.65e-10)|Epithelial(33;6.48e-07)|all cancers(31;2.31e-06)	GBM - Glioblastoma multiforme(1328;0.0318)		CACCTCAGGGAGGGACTCGTA	0.711													3	18					0	0	1	0	0	G	10503942	A	G	10503942	3	3	81	1	0	0	0	0	1	0	0	0	3090	304	11	3	246	3	CDC37	19	10503942	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	157	10503942	48625041	13310	16926											
PDE4A	5141	broad.mit.edu	37	19	10561606	10561606	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:10561606G>A	ENST00000380702.2	+	7	706	c.706G>A	c.(706-708)Gcc>Acc	p.A236T	PDE4A_ENST00000352831.6_Missense_Mutation_p.A258T|PDE4A_ENST00000440014.2_Missense_Mutation_p.A197T|PDE4A_ENST00000592685.1_Missense_Mutation_p.A236T|PDE4A_ENST00000293683.5_Missense_Mutation_p.A232T			P27815	PDE4A_HUMAN	phosphodiesterase 4A, cAMP-specific	258					signal transduction	cytosol|membrane fraction|perinuclear region of cytoplasm|ruffle membrane|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(20;5.8e-10)|Epithelial(33;7.58e-07)|all cancers(31;3.91e-06)		Cilostazol(DB01166)|Dipyridamole(DB00975)|Dyphylline(DB00651)|Enprofylline(DB00824)|Iloprost(DB01088)|Milrinone(DB00235)|Pentoxifylline(DB00806)|Phentolamine(DB00692)|Tadalafil(DB00820)|Theophylline(DB00277)	CAGCGAGATGGCCTCGCACAA	0.662													3	7					0	0	1	0	0	A	10561606	G	A	10561606	3	1	81	1	0	0	0	0	1	0	0	0	11686	1203	42	2	1181	2	PDE4A	19	10561606	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	57664	10561606	48567377	13311	16927											
KEAP1	9817	broad.mit.edu	37	19	10600040	10600040	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:10600040G>A	ENST00000171111.5	-	5	2083	c.1536C>T	c.(1534-1536)gtC>gtT	p.V512V	KEAP1_ENST00000393623.2_Silent_p.V512V	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	512					regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding			breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)			GCAGGACGCAGACGCCTAAAG	0.572													14	22					0	0	1	0	0	A	10600040	G	A	10600040	2	1	81	1	0	0	0	0	0	0	0	1	8184	929	33	2		2	KEAP1	19	10600040	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	38434	10600040	48528943	13312	16928											
ATG4D	84971	broad.mit.edu	37	19	10662938	10662938	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:10662938A>G	ENST00000309469.4	+	9	1353	c.1180A>G	c.(1180-1182)Acc>Gcc	p.T394A	ATG4D_ENST00000540862.1_Missense_Mutation_p.T61A	NM_032885.4	NP_116274.3	Q86TL0	ATG4D_HUMAN	autophagy related 4D, cysteine peptidase	394					autophagy|protein transport	cytoplasm	cysteine-type endopeptidase activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	19			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			CCCAAGCTGTACCGTGGGCTT	0.612													11	23					0	0	1	0	0	G	10662938	A	G	10662938	3	3	81	1	0	0	0	0	1	0	0	0	1098	391	14	3	1214	3	ATG4D	19	10662938	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	62898	10662938	48466045	13313	16929											
KRI1	65095	broad.mit.edu	37	19	10675645	10675645	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:10675645G>A	ENST00000312962.6	-	3	271	c.252C>T	c.(250-252)ccC>ccT	p.P84P	KRI1_ENST00000537964.1_5'UTR|KRI1_ENST00000361821.5_Silent_p.P80P	NM_023008.3	NP_075384.3	Q8N9T8	KRI1_HUMAN	KRI1 homolog (S. cerevisiae)	84										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)			GATAAATGCGGGGGTCCTTCT	0.507											OREG0025239	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	39	87					0	0	1	0	0	A	10675645	G	A	10675645	2	1	81	1	0	0	0	0	0	0	0	1	8487	1219	43	2		2	KRI1	19	10675645	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	12707	10675645	48453338	13314	16930											
SLC44A2	57153	broad.mit.edu	37	19	10742775	10742775	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:10742775C>A	ENST00000586078.1	+	10	875	c.766C>A	c.(766-768)Ctg>Atg	p.L256M	SLC44A2_ENST00000335757.5_Missense_Mutation_p.L256M|SLC44A2_ENST00000407327.4_Missense_Mutation_p.L254M	NM_020428.3	NP_065161.3	Q8IWA5	CTL2_HUMAN	solute carrier family 44 (choline transporter), member 2	256					positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane|plasma membrane	choline transmembrane transporter activity|signal transducer activity			NS(1)|breast(3)|endometrium(5)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27			Epithelial(33;8.7e-06)|all cancers(31;2.77e-05)		Choline(DB00122)	GCTTCGCTTCCTGGCTGGTAT	0.552													11	143					0.010729	0.0111384	1	1	0	A	10742775	C	A	10742775	3	1	81	1	0	0	0	0	1	0	0	0	14691	680	24	4	839	4	SLC44A2	19	10742775	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	67130	10742775	48386208	13315	16931											
SLC44A2	57153	broad.mit.edu	37	19	10746140	10746140	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:10746140G>T	ENST00000586078.1	+	14	1291	c.1182G>T	c.(1180-1182)aaG>aaT	p.K394N	SLC44A2_ENST00000335757.5_Missense_Mutation_p.K394N|SLC44A2_ENST00000407327.4_Missense_Mutation_p.K392N	NM_020428.3	NP_065161.3	Q8IWA5	CTL2_HUMAN	solute carrier family 44 (choline transporter), member 2	394					positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane|plasma membrane	choline transmembrane transporter activity|signal transducer activity			NS(1)|breast(3)|endometrium(5)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27			Epithelial(33;8.7e-06)|all cancers(31;2.77e-05)		Choline(DB00122)	CGGTCTATAAGATCTTTGATG	0.572													18	86					1.33834e-09	1.61909e-09	1	1	0	T	10746140	G	T	10746140	3	4	81	1	0	0	0	0	1	0	0	0	14691	933	33	4	1271	4	SLC44A2	19	10746140	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	3365	10746140	48382843	13316	16932											
ILF3	3609	broad.mit.edu	37	19	10781697	10781697	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:10781697G>T	ENST00000449870.1	+	3	368	c.51G>T	c.(49-51)aaG>aaT	p.K17N	ILF3_ENST00000589998.1_Missense_Mutation_p.K17N|ILF3_ENST00000407004.3_Missense_Mutation_p.K17N|ILF3_ENST00000590261.1_Missense_Mutation_p.K17N|ILF3_ENST00000250241.8_Missense_Mutation_p.K17N|ILF3_ENST00000318511.3_Missense_Mutation_p.K17N|ILF3_ENST00000588657.1_Missense_Mutation_p.K17N|ILF3_ENST00000420083.1_Missense_Mutation_p.K17N|ILF3_ENST00000592763.1_Missense_Mutation_p.K17N	NM_017620.2	NP_060090.2	Q12906	ILF3_HUMAN	interleukin enhancer binding factor 3, 90kDa	17					M phase|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleolus|ribonucleoprotein complex	DNA binding|double-stranded RNA binding|protein binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31			Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)			TGATGGCAAAGCATTCTTCCG	0.488													5	15					2.0095e-06	2.30238e-06	1	1	0	T	10781697	G	T	10781697	3	4	81	1	0	0	0	0	1	0	0	0	7756	962	34	4	57	4	ILF3	19	10781697	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	35557	10781697	48347286	13317	16933											
ILF3	3609	broad.mit.edu	37	19	10782100	10782100	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:10782100G>T	ENST00000449870.1	+	4	617	c.300G>T	c.(298-300)aaG>aaT	p.K100N	ILF3_ENST00000589998.1_Missense_Mutation_p.K100N|ILF3_ENST00000407004.3_Missense_Mutation_p.K100N|ILF3_ENST00000590261.1_Missense_Mutation_p.K100N|ILF3_ENST00000250241.8_Missense_Mutation_p.K100N|ILF3_ENST00000318511.3_Missense_Mutation_p.K100N|ILF3_ENST00000588657.1_Missense_Mutation_p.K100N|ILF3_ENST00000420083.1_Missense_Mutation_p.K100N|ILF3_ENST00000592763.1_Missense_Mutation_p.K100N	NM_017620.2	NP_060090.2	Q12906	ILF3_HUMAN	interleukin enhancer binding factor 3, 90kDa	100	DZF.				M phase|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleolus|ribonucleoprotein complex	DNA binding|double-stranded RNA binding|protein binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31			Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)			TGGTGGCAAAGGGCCTCCTAC	0.617													10	115					0.0692343	0.0705186	1	1	0	T	10782100	G	T	10782100	3	4	81	1	0	0	0	0	1	0	0	0	7756	991	35	4	310	4	ILF3	19	10782100	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	403	10782100	48346883	13318	16934											
ILF3	3609	broad.mit.edu	37	19	10792710	10792710	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:10792710C>T	ENST00000449870.1	+	12	1539	c.1222C>T	c.(1222-1224)Cgg>Tgg	p.R408W	ILF3_ENST00000589998.1_Missense_Mutation_p.R408W|ILF3_ENST00000407004.3_Missense_Mutation_p.R408W|ILF3_ENST00000590261.1_Missense_Mutation_p.R408W|ILF3_ENST00000250241.8_Missense_Mutation_p.R408W|ILF3_ENST00000318511.3_Missense_Mutation_p.R408W|ILF3_ENST00000588657.1_Missense_Mutation_p.R408W|ILF3_ENST00000420083.1_Missense_Mutation_p.R408W|ILF3_ENST00000592763.1_Missense_Mutation_p.R408W	NM_017620.2	NP_060090.2	Q12906	ILF3_HUMAN	interleukin enhancer binding factor 3, 90kDa	408	DRBM 1.				M phase|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleolus|ribonucleoprotein complex	DNA binding|double-stranded RNA binding|protein binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31			Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)			TGCCCTGATGCGGTTGAACCA	0.582													6	36					0	0	1	0	0	T	10792710	C	T	10792710	3	4	81	1	0	0	0	0	1	0	0	0	7756	759	27	1	1264	1	ILF3	19	10792710	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	10610	10792710	48336273	13319	16935											
ILF3	3609	broad.mit.edu	37	19	10794150	10794150	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:10794150G>A	ENST00000449870.1	+	15	2112	c.1795G>A	c.(1795-1797)Gcc>Acc	p.A599T	ILF3_ENST00000589998.1_Missense_Mutation_p.A595T|ILF3_ENST00000407004.3_Missense_Mutation_p.A599T|ILF3_ENST00000590261.1_Missense_Mutation_p.A595T|ILF3_ENST00000250241.8_Missense_Mutation_p.A595T|ILF3_ENST00000318511.3_Missense_Mutation_p.A595T|ILF3_ENST00000588657.1_Missense_Mutation_p.A599T|ILF3_ENST00000420083.1_Missense_Mutation_p.A595T|ILF3_ENST00000592763.1_Missense_Mutation_p.A599T	NM_017620.2	NP_060090.2	Q12906	ILF3_HUMAN	interleukin enhancer binding factor 3, 90kDa	595					M phase|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleolus|ribonucleoprotein complex	DNA binding|double-stranded RNA binding|protein binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31			Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)			CACCCCTCTCGCCCTTGATGC	0.552													25	42					0	0	1	0	0	A	10794150	G	A	10794150	3	1	81	1	0	0	0	0	1	0	0	0	7756	1087	38	1	1849	1	ILF3	19	10794150	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1440	10794150	48334833	13320	16936											
ILF3	3609	broad.mit.edu	37	19	10794426	10794426	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:10794426G>T	ENST00000449870.1	+	16	2295	c.1978G>T	c.(1978-1980)Gga>Tga	p.G660*	ILF3_ENST00000589998.1_Nonsense_Mutation_p.G656*|ILF3_ENST00000407004.3_Nonsense_Mutation_p.G660*|ILF3_ENST00000590261.1_Nonsense_Mutation_p.G656*|ILF3_ENST00000250241.8_Nonsense_Mutation_p.G656*|ILF3_ENST00000318511.3_Nonsense_Mutation_p.G656*|ILF3_ENST00000588657.1_Nonsense_Mutation_p.G660*|ILF3_ENST00000420083.1_Nonsense_Mutation_p.G656*|ILF3_ENST00000592763.1_Nonsense_Mutation_p.G660*	NM_017620.2	NP_060090.2	Q12906	ILF3_HUMAN	interleukin enhancer binding factor 3, 90kDa	656	Interaction with PRMT1.				M phase|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleolus|ribonucleoprotein complex	DNA binding|double-stranded RNA binding|protein binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31			Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)			GCGCGGGCGAGGATTTGGTGG	0.652													10	20					2.17888e-05	2.43576e-05	1	1	0	T	10794426	G	T	10794426	4	4	81	1	0	0	0	0	0	1	0	0	7756	1001	35	4	2036	4	ILF3	19	10794426	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	276	10794426	48334557	13321	16937											
QTRT1	81890	broad.mit.edu	37	19	10823678	10823678	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:10823678G>A	ENST00000250237.5	+	9	1031	c.1021G>A	c.(1021-1023)Gcg>Acg	p.A341T		NM_031209.2	NP_112486.1	Q9BXR0	TGT_HUMAN	queuine tRNA-ribosyltransferase 1	341					queuosine biosynthetic process	mitochondrion|nucleus|ribosome	metal ion binding|queuine tRNA-ribosyltransferase activity			large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	12			Epithelial(33;1.55e-05)|all cancers(31;3.42e-05)			CAACACGGCCGCGCTGCACCA	0.682													11	17					0	0	1	0	0	A	10823678	G	A	10823678	3	1	81	1	0	0	0	0	1	0	0	0	12937	1087	38	1	1055	1	QTRT1	19	10823678	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	29252	10823678	48305305	13322	16938											
DNM2	1785	broad.mit.edu	37	19	10886449	10886449	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:10886449C>T	ENST00000314646.5	+	4	620	c.456C>T	c.(454-456)atC>atT	p.I152I	DNM2_ENST00000355667.6_Silent_p.I152I|DNM2_ENST00000591819.1_3'UTR|DNM2_ENST00000408974.4_Silent_p.I152I|DNM2_ENST00000359692.6_Silent_p.I152I|DNM2_ENST00000585892.1_Silent_p.I152I|DNM2_ENST00000389253.4_Silent_p.I152I			P50570	DYN2_HUMAN	dynamin 2	152					G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport	cell junction|cytosol|Golgi membrane|microtubule|postsynaptic density|postsynaptic membrane	GTP binding|GTPase activity|microtubule binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	42			Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)			CTCCAGACATCGAGTACCAGA	0.582			"F, N, Splice, Mis, O"		ETP ALL								9	154					0	0	1	0	0	T	10886449	C	T	10886449	2	4	81	1	0	0	0	0	0	0	0	1	4699	874	31	1		1	DNM2	19	10886449	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	62771	10886449	48242534	13323	16939											
DNM2	1785	broad.mit.edu	37	19	10904445	10904445	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:10904445G>T	ENST00000314646.5	+	8	1206	c.1042G>T	c.(1042-1044)Gga>Tga	p.G348*	DNM2_ENST00000355667.6_Nonsense_Mutation_p.G348*|DNM2_ENST00000408974.4_Nonsense_Mutation_p.G348*|DNM2_ENST00000359692.6_Nonsense_Mutation_p.G348*|DNM2_ENST00000585892.1_Nonsense_Mutation_p.G348*|DNM2_ENST00000389253.4_Nonsense_Mutation_p.G348*			P50570	DYN2_HUMAN	dynamin 2	348					G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport	cell junction|cytosol|Golgi membrane|microtubule|postsynaptic density|postsynaptic membrane	GTP binding|GTPase activity|microtubule binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	42			Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)			CGAGGGCTCAGGAGATCAGGT	0.547			"F, N, Splice, Mis, O"		ETP ALL								5	120					3.59834e-05	3.99423e-05	1	1	0	T	10904445	G	T	10904445	4	4	81	1	0	0	0	0	0	1	0	0	4699	1001	35	4	1072	4	DNM2	19	10904445	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	17996	10904445	48224538	13324	16940											
DNM2	1785	broad.mit.edu	37	19	10906768	10906768	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:10906768G>A	ENST00000359692.6	+	10	1378	c.1228G>A	c.(1228-1230)Gag>Aag	p.E410K	DNM2_ENST00000355667.6_Missense_Mutation_p.E410K|DNM2_ENST00000408974.4_Intron|DNM2_ENST00000585892.1_Missense_Mutation_p.E410K|DNM2_ENST00000314646.5_Intron|DNM2_ENST00000389253.4_Intron	NM_004945.3	NP_004936.2	P50570	DYN2_HUMAN	dynamin 2	410					G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport	cell junction|cytosol|Golgi membrane|microtubule|postsynaptic density|postsynaptic membrane	GTP binding|GTPase activity|microtubule binding	p.E410K(1)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	42			Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)			CTTGGCATTCGAGGCCATTGT	0.512			"F, N, Splice, Mis, O"		ETP ALL								14	140					0	0	1	0	0	A	10906768	G	A	10906768	3	1	81	1	0	0	0	0	1	0	0	0	4699	1059	37	1	1266	1	DNM2	19	10906768	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2323	10906768	48222215	13325	16941											
DNM2	1785	broad.mit.edu	37	19	10939813	10939813	+	Silent	SNP	C	C	T	rs117598326	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:10939813C>T	ENST00000314646.5	+	19	2324	c.2160C>T	c.(2158-2160)gaC>gaT	p.D720D	DNM2_ENST00000355667.6_Silent_p.D720D|DNM2_ENST00000408974.4_Silent_p.D716D|DNM2_ENST00000359692.6_Silent_p.D716D|DNM2_ENST00000585892.1_Silent_p.D720D|DNM2_ENST00000389253.4_Silent_p.D720D			P50570	DYN2_HUMAN	dynamin 2	720	GED.				G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport	cell junction|cytosol|Golgi membrane|microtubule|postsynaptic density|postsynaptic membrane	GTP binding|GTPase activity|microtubule binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	42			Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)			AGCGGCGGGACGACATGCTGC	0.622			"F, N, Splice, Mis, O"		ETP ALL								9	8					0	0	1	0	0	T	10939813	C	T	10939813	2	4	81	1	0	0	0	0	0	0	0	1	4699	535	19	1		1	DNM2	19	10939813	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	33045	10939813	48189170	13326	16942											
TMED1	11018	broad.mit.edu	37	19	10943688	10943688	+	Missense_Mutation	SNP	G	G	A	rs139213045	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:10943688G>A	ENST00000214869.2	-	4	765	c.667C>T	c.(667-669)Cgc>Tgc	p.R223C	TMED1_ENST00000591695.1_Silent_p.S161S|TMED1_ENST00000588289.1_Missense_Mutation_p.R78C	NM_006858.2	NP_006849.1	Q13445	TMED1_HUMAN	transmembrane emp24 protein transport domain containing 1	223					cell-cell signaling|signal transduction|transport	integral to membrane|plasma membrane	receptor binding			breast(1)|central_nervous_system(2)|lung(2)|ovary(3)|prostate(1)|skin(1)	10						GGCACCGGGCGCTTGTCCTGG	0.612													13	28					0	0	1	0	0	A	10943688	G	A	10943688	3	1	81	1	0	0	0	0	1	0	0	0	16062	1087	38	1	20	1	TMED1	19	10943688	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	3875	10943688	48185295	13327	16943											
YIPF2	78992	broad.mit.edu	37	19	11034337	11034337	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:11034337G>T	ENST00000586748.1	-	8	840	c.668C>A	c.(667-669)cCt>cAt	p.P223H	YIPF2_ENST00000253031.2_Missense_Mutation_p.P223H|YIPF2_ENST00000590329.1_Missense_Mutation_p.P184H			Q9BWQ6	YIPF2_HUMAN	Yip1 domain family, member 2	223						integral to membrane|transport vesicle				cervix(1)|endometrium(1)|lung(3)|ovary(2)	7						CCAAGGCACAGGGATGAGCCA	0.687													4	24					0.150653	0.152522	1	1	0	T	11034337	G	T	11034337	3	4	81	1	0	0	0	0	1	0	0	0	17538	1000	35	4	290	4	YIPF2	19	11034337	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	90649	11034337	48094646	13328	16944											
SMARCA4	6597	broad.mit.edu	37	19	11098592	11098592	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:11098592C>T	ENST00000358026.2	+	6	1394	c.1110C>T	c.(1108-1110)cgC>cgT	p.R370R	SMARCA4_ENST00000589677.1_Silent_p.R370R|SMARCA4_ENST00000450717.3_Silent_p.R370R|SMARCA4_ENST00000444061.3_Silent_p.R370R|SMARCA4_ENST00000590574.1_Silent_p.R370R|SMARCA4_ENST00000541122.2_Silent_p.R370R|SMARCA4_ENST00000344626.4_Silent_p.R370R|SMARCA4_ENST00000413806.3_Silent_p.R370R|SMARCA4_ENST00000429416.3_Silent_p.R370R	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	370					chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				TGCAGGAGCGCGAGTACAGGT	0.662			"F, N, Mis"		NSCLC								10	4					0	0	1	0	0	T	11098592	C	T	11098592	2	4	81	1	0	0	0	0	0	0	0	1	14824	755	27	1		1	SMARCA4	19	11098592	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	64255	11098592	48030391	13329	16945											
SMARCA4	6597	broad.mit.edu	37	19	11107011	11107011	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:11107011G>T	ENST00000358026.2	+	10	2000	c.1716G>T	c.(1714-1716)aaG>aaT	p.K572N	SMARCA4_ENST00000589677.1_Missense_Mutation_p.K572N|SMARCA4_ENST00000450717.3_Missense_Mutation_p.K572N|SMARCA4_ENST00000444061.3_Missense_Mutation_p.K572N|SMARCA4_ENST00000590574.1_Missense_Mutation_p.K572N|SMARCA4_ENST00000541122.2_Missense_Mutation_p.K572N|SMARCA4_ENST00000344626.4_Missense_Mutation_p.K572N|SMARCA4_ENST00000413806.3_Missense_Mutation_p.K572N|SMARCA4_ENST00000429416.3_Missense_Mutation_p.K572N	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	572					chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(3)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				GGCAGCACAAGGCTGCCCAGG	0.597			"F, N, Mis"		NSCLC								5	73					1	1	1	1	0	T	11107011	G	T	11107011	3	4	81	1	0	0	0	0	1	0	0	0	14824	991	35	4	1750	4	SMARCA4	19	11107011	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	8419	11107011	48021972	13330	16946											
SMARCA4	6597	broad.mit.edu	37	19	11118620	11118620	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:11118620C>A	ENST00000358026.2	+	14	2328	c.2044C>A	c.(2044-2046)Ctg>Atg	p.L682M	SMARCA4_ENST00000589677.1_Missense_Mutation_p.L682M|SMARCA4_ENST00000450717.3_Missense_Mutation_p.L682M|SMARCA4_ENST00000444061.3_Missense_Mutation_p.L682M|SMARCA4_ENST00000590574.1_Missense_Mutation_p.L682M|SMARCA4_ENST00000541122.2_Missense_Mutation_p.L682M|SMARCA4_ENST00000344626.4_Missense_Mutation_p.L682M|SMARCA4_ENST00000413806.3_Missense_Mutation_p.L682M|SMARCA4_ENST00000429416.3_Missense_Mutation_p.L682M	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	682					chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				GCCTCCCACCCTGCCCGTGGA	0.607			"F, N, Mis"		NSCLC								3	24					1	1	1	1	0	A	11118620	C	A	11118620	3	1	81	1	0	0	0	0	1	0	0	0	14824	680	24	4	2094	4	SMARCA4	19	11118620	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	11609	11118620	48010363	13331	16947											
SMARCA4	6597	broad.mit.edu	37	19	11134247	11134247	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:11134247G>A	ENST00000358026.2	+	20	3197	c.2913G>A	c.(2911-2913)gtG>gtA	p.V971V	SMARCA4_ENST00000589677.1_Silent_p.V971V|SMARCA4_ENST00000450717.3_Silent_p.V971V|SMARCA4_ENST00000444061.3_Silent_p.V971V|SMARCA4_ENST00000590574.1_Silent_p.V971V|SMARCA4_ENST00000541122.2_Silent_p.V971V|SMARCA4_ENST00000344626.4_Silent_p.V971V|SMARCA4_ENST00000413806.3_Silent_p.V971V|SMARCA4_ENST00000429416.3_Silent_p.V971V	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	971					chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				TCCACAAAGTGCTGCGGCCCT	0.567			"F, N, Mis"		NSCLC								9	9					0	0	1	0	0	A	11134247	G	A	11134247	2	1	81	1	0	0	0	0	0	0	0	1	14824	1306	46	2		2	SMARCA4	19	11134247	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	15627	11134247	47994736	13332	16948											
SMARCA4	6597	broad.mit.edu	37	19	11135027	11135027	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:11135027C>T	ENST00000358026.2	+	21	3278	c.2994C>T	c.(2992-2994)tgC>tgT	p.C998C	SMARCA4_ENST00000589677.1_Silent_p.C998C|SMARCA4_ENST00000450717.3_Silent_p.C998C|SMARCA4_ENST00000444061.3_Silent_p.C998C|SMARCA4_ENST00000590574.1_Silent_p.C998C|SMARCA4_ENST00000541122.2_Silent_p.C998C|SMARCA4_ENST00000344626.4_Silent_p.C998C|SMARCA4_ENST00000413806.3_Silent_p.C998C|SMARCA4_ENST00000429416.3_Silent_p.C998C	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	998					chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				TCATCAAGTGCGACATGTCTG	0.622			"F, N, Mis"		NSCLC								7	25					0	0	1	0	0	T	11135027	C	T	11135027	2	4	81	1	0	0	0	0	0	0	0	1	14824	776	27	1		1	SMARCA4	19	11135027	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	780	11135027	47993956	13333	16949											
SMARCA4	6597	broad.mit.edu	37	19	11145688	11145688	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:11145688C>T	ENST00000358026.2	+	29	4334	c.4050C>T	c.(4048-4050)gaC>gaT	p.D1350D	SMARCA4_ENST00000589677.1_Silent_p.D1317D|SMARCA4_ENST00000538456.3_3'UTR|SMARCA4_ENST00000450717.3_Silent_p.D1317D|SMARCA4_ENST00000444061.3_Silent_p.D1317D|SMARCA4_ENST00000590574.1_Silent_p.D1317D|SMARCA4_ENST00000541122.2_Silent_p.D1317D|SMARCA4_ENST00000344626.4_Silent_p.D1350D|SMARCA4_ENST00000413806.3_Silent_p.D1317D|SMARCA4_ENST00000429416.3_Silent_p.D1350D	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	1350					chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				TCATCAAGGACGACGCGGAGG	0.667			"F, N, Mis"		NSCLC								7	7					0	0	1	0	0	T	11145688	C	T	11145688	2	4	81	1	0	0	0	0	0	0	0	1	14824	535	19	1		1	SMARCA4	19	11145688	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	10661	11145688	47983295	13334	16950											
SMARCA4	6597	broad.mit.edu	37	19	11150164	11150164	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:11150164G>A	ENST00000358026.2	+	30	4485	c.4201G>A	c.(4201-4203)Gcc>Acc	p.A1401T	SMARCA4_ENST00000589677.1_Intron|SMARCA4_ENST00000538456.3_3'UTR|SMARCA4_ENST00000450717.3_Intron|SMARCA4_ENST00000444061.3_Intron|SMARCA4_ENST00000590574.1_Intron|SMARCA4_ENST00000541122.2_Intron|SMARCA4_ENST00000344626.4_Intron|SMARCA4_ENST00000413806.3_Intron|SMARCA4_ENST00000429416.3_Intron	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	1389					chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				ccatgacacaGCCAGCAGTGT	0.493			"F, N, Mis"		NSCLC								6	9					0	0	1	0	0	A	11150164	G	A	11150164	3	1	81	1	0	0	0	0	1	0	0	0	14824	971	34	2	4315	2	SMARCA4	19	11150164	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	4476	11150164	47978819	13335	16951											
KANK2	25959	broad.mit.edu	37	19	11280725	11280725	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:11280725C>T	ENST00000432929.2	-	11	2795	c.2435G>A	c.(2434-2436)cGc>cAc	p.R812H	KANK2_ENST00000586659.1_Splice_Site_p.R804H|KANK2_ENST00000589359.1_Splice_Site_p.R812H|KANK2_ENST00000589894.1_Splice_Site_p.R804H|KANK2_ENST00000355150.5_Splice_Site_p.R804H|KANK2_ENST00000587317.1_5'UTR	NM_001136191.2	NP_001129663.1	Q63ZY3	KANK2_HUMAN	KN motif and ankyrin repeat domains 2	804										endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						GAGACTCACGCGATCTGTGAG	0.642													28	51					0	0	1	0	0	T	11280725	C	T	11280725	5	4	81	1	0	0	0	0	0	0	1	0	8021	782	27	1	156	1	KANK2	19	11280725	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	130561	11280725	47848258	13336	16952											
KANK2	25959	broad.mit.edu	37	19	11287388	11287388	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:11287388G>A	ENST00000432929.2	-	7	2010	c.1650C>T	c.(1648-1650)gcC>gcT	p.A550A	KANK2_ENST00000586659.1_Silent_p.A542A|KANK2_ENST00000589359.1_Silent_p.A550A|KANK2_ENST00000589894.1_Silent_p.A542A|KANK2_ENST00000355150.5_Silent_p.A542A	NM_001136191.2	NP_001129663.1	Q63ZY3	KANK2_HUMAN	KN motif and ankyrin repeat domains 2	542										endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						GGGGGGCTTCGGCCACACTCG	0.627													26	67					0	0	1	0	0	A	11287388	G	A	11287388	2	1	81	1	0	0	0	0	0	0	0	1	8021	1103	39	1		1	KANK2	19	11287388	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	6663	11287388	47841595	13337	16953											
DOCK6	57572	broad.mit.edu	37	19	11319682	11319682	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:11319682C>T	ENST00000294618.7	-	38	4860	c.4849G>A	c.(4849-4851)Gcc>Acc	p.A1617T	CTC-510F12.2_ENST00000588634.1_RNA|DOCK6_ENST00000319867.7_Missense_Mutation_p.A956T	NM_020812.3	NP_065863.2	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	1617	DHR-2.				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						ATGCACTGGGCGGCCTCGGCG	0.692													3	7					0	0	1	0	0	T	11319682	C	T	11319682	3	4	81	1	0	0	0	0	1	0	0	0	4718	768	27	1	1338	1	DOCK6	19	11319682	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	32294	11319682	47809301	13338	16954											
DOCK6	57572	broad.mit.edu	37	19	11322803	11322803	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:11322803C>T	ENST00000294618.7	-	36	4527	c.4516G>A	c.(4516-4518)Gtc>Atc	p.V1506I	CTC-510F12.2_ENST00000588634.1_RNA|DOCK6_ENST00000319867.7_Missense_Mutation_p.V845I	NM_020812.3	NP_065863.2	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	1506	DHR-2.				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						GACATGGTGACCTGCATCTTC	0.592													6	17					0	0	1	0	0	T	11322803	C	T	11322803	3	4	81	1	0	0	0	0	1	0	0	0	4718	507	18	2	1679	2	DOCK6	19	11322803	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3121	11322803	47806180	13339	16955											
DOCK6	57572	broad.mit.edu	37	19	11332616	11332616	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:11332616T>C	ENST00000294618.7	-	28	3472	c.3461A>G	c.(3460-3462)gAg>gGg	p.E1154G	DOCK6_ENST00000319867.7_Missense_Mutation_p.E493G	NM_020812.3	NP_065863.2	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	1154					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						CACAGTGGCCTCGGCGTAGCG	0.592													10	73					0	0	1	0	0	C	11332616	T	C	11332616	3	2	81	1	0	0	0	0	1	0	0	0	4718	1551	54	3	2766	3	DOCK6	19	11332616	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	9813	11332616	47796367	13340	16956											
DOCK6	57572	broad.mit.edu	37	19	11338101	11338101	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:11338101C>T	ENST00000294618.7	-	24	2878	c.2867G>A	c.(2866-2868)cGc>cAc	p.R956H	DOCK6_ENST00000319867.7_Missense_Mutation_p.R295H	NM_020812.3	NP_065863.2	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	956					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	p.R956H(1)		breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						GCGCAGCTTGCGGGGTGTGTC	0.632													5	7					0	0	1	0	0	T	11338101	C	T	11338101	3	4	81	1	0	0	0	0	1	0	0	0	4718	768	27	1	3376	1	DOCK6	19	11338101	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	5485	11338101	47790882	13341	16957											
RAB3D	9545	broad.mit.edu	37	19	11436202	11436202	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:11436202G>A	ENST00000222120.3	-	5	792	c.532C>T	c.(532-534)Cgc>Tgc	p.R178C	RAB3D_ENST00000589655.1_Missense_Mutation_p.R178C|TSPAN16_ENST00000316737.1_Intron	NM_004283.3	NP_004274.1	O95716	RAB3D_HUMAN	RAB3D, member RAS oncogene family	178					exocytosis|protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|ovary(2)	14						TCCACCAGGCGCTCGAAGACC	0.567													7	71					0	0	1	0	0	A	11436202	G	A	11436202	3	1	81	1	0	0	0	0	1	0	0	0	12986	1087	38	1	131	1	RAB3D	19	11436202	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	98101	11436202	47692781	13342	16958											
RAB3D	9545	broad.mit.edu	37	19	11447954	11447954	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:11447954C>T	ENST00000222120.3	-	2	382	c.122G>A	c.(121-123)cGa>cAa	p.R41Q	RAB3D_ENST00000589655.1_Missense_Mutation_p.R41Q	NM_004283.3	NP_004274.1	O95716	RAB3D_HUMAN	RAB3D, member RAS oncogene family	41					exocytosis|protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|ovary(2)	14						GTCCGCGTATCGGAACAGGAA	0.537													114	186					0	0	1	0	0	T	11447954	C	T	11447954	3	4	81	1	0	0	0	0	1	0	0	0	12986	884	31	1	553	1	RAB3D	19	11447954	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	11752	11447954	47681029	13343	16959											
EPOR	2057	broad.mit.edu	37	19	11489001	11489001	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:11489001C>T	ENST00000222139.6	-	8	1290	c.1186G>A	c.(1186-1188)Gcc>Acc	p.A396T	EPOR_ENST00000592375.2_3'UTR	NM_000121.3	NP_000112.1	P19235	EPOR_HUMAN	erythropoietin receptor	396						extracellular region|integral to plasma membrane	erythropoietin receptor activity|identical protein binding			endometrium(1)|lung(2)|ovary(1)|urinary_tract(1)	5					Darbepoetin alfa(DB00012)|Epoetin alfa(DB00016)	TCATCCATGGCCACTATGTCC	0.597											OREG0025254	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	16	38					0	0	1	0	0	T	11489001	C	T	11489001	3	4	81	1	0	0	0	0	1	0	0	0	5217	739	26	2	344	2	EPOR	19	11489001	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	41047	11489001	47639982	13344	16960											
RGL3	57139	broad.mit.edu	37	19	11505135	11505135	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:11505135G>T	ENST00000380456.3	-	19	2139	c.2076C>A	c.(2074-2076)gaC>gaA	p.D692E	RGL3_ENST00000568628.1_5'UTR|RGL3_ENST00000393423.3_Missense_Mutation_p.D698E	NM_001035223.2|NM_001161616.1	NP_001030300.2|NP_001155088.1	Q3MIN7	RGL3_HUMAN	ral guanine nucleotide dissociation stimulator-like 3	692	Interaction with HRAS, MRAS and RIT1 (By similarity).|Ras-associating.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular				breast(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(1)|skin(1)	18						GCAGCATGAAGTCTCTGGGGG	0.572													13	30					1.37285e-15	1.7532e-15	1	1	0	T	11505135	G	T	11505135	3	4	81	1	0	0	0	0	1	0	0	0	13330	1020	36	4	60	4	RGL3	19	11505135	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	16134	11505135	47623848	13345	16961											
RGL3	57139	broad.mit.edu	37	19	11507938	11507938	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:11507938C>T	ENST00000380456.3	-	18	2059	c.1996G>A	c.(1996-1998)Gtc>Atc	p.V666I	RGL3_ENST00000568628.1_5'UTR|RGL3_ENST00000393423.3_Missense_Mutation_p.V672I	NM_001035223.2|NM_001161616.1	NP_001030300.2|NP_001155088.1	Q3MIN7	RGL3_HUMAN	ral guanine nucleotide dissociation stimulator-like 3	666	Interaction with HRAS, MRAS and RIT1 (By similarity).|Ras-associating.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular				breast(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(1)|skin(1)	18						CCAGGAAGGACTTGAAAGAGC	0.642													6	116					0	0	1	0	0	T	11507938	C	T	11507938	3	4	81	1	0	0	0	0	1	0	0	0	13330	565	20	2	144	2	RGL3	19	11507938	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2803	11507938	47621045	13346	16962											
ZNF653	115950	broad.mit.edu	37	19	11597974	11597974	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:11597974C>A	ENST00000293771.5	-	5	1308		c.e5-1		CTC-398G3.6_ENST00000585656.1_Intron	NM_138783.3	NP_620138.2	Q96CK0	ZN653_HUMAN	zinc finger protein 653						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	17						TCCTCCTTCTCTACAGGGTGG	0.652													18	58					1.01871e-10	1.25121e-10	1	1	0	A	11597974	C	A	11597974	5	1	81	1	0	0	0	0	0	0	1	0	18123	927	32	4	696	4	ZNF653	19	11597974	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	90036	11597974	47531009	13347	16963											
ZNF441	126068	broad.mit.edu	37	19	11888483	11888483	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:11888483C>A	ENST00000357901.4	+	2	163	c.61C>A	c.(61-63)Ctg>Atg	p.L21M	ZNF441_ENST00000454339.2_5'UTR	NM_152355.2	NP_689568.2	Q8N8Z8	ZN441_HUMAN	zinc finger protein 441	21	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GTGGGCTTTGCTGGGTCCATC	0.433													5	30					0.014758	0.0152304	1	1	0	A	11888483	C	A	11888483	3	1	81	1	0	0	0	0	1	0	0	0	17971	796	28	4	67	4	ZNF441	19	11888483	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	290509	11888483	47240500	13348	16964											
ZNF441	126068	broad.mit.edu	37	19	11890911	11890911	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:11890911G>A	ENST00000357901.4	+	4	374	c.272G>A	c.(271-273)aGt>aAt	p.S91N	ZNF441_ENST00000454339.2_Missense_Mutation_p.S24N	NM_152355.2	NP_689568.2	Q8N8Z8	ZN441_HUMAN	zinc finger protein 441	91					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						ACTCAAGACAGTATTGTGAAC	0.398													26	46					0	0	1	0	0	A	11890911	G	A	11890911	3	1	81	1	0	0	0	0	1	0	0	0	17971	1029	36	2	286	2	ZNF441	19	11890911	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2428	11890911	47238072	13349	16965											
ZNF441	126068	broad.mit.edu	37	19	11891085	11891085	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:11891085C>T	ENST00000357901.4	+	4	548	c.446C>T	c.(445-447)gCt>gTt	p.A149V	ZNF441_ENST00000454339.2_Missense_Mutation_p.A82V	NM_152355.2	NP_689568.2	Q8N8Z8	ZN441_HUMAN	zinc finger protein 441	149					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TGTGGGACAGCTTTCAGTTAT	0.388													33	42					0	0	1	0	0	T	11891085	C	T	11891085	3	4	81	1	0	0	0	0	1	0	0	0	17971	797	28	2	460	2	ZNF441	19	11891085	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	174	11891085	47237898	13350	16966											
ZNF441	126068	broad.mit.edu	37	19	11892634	11892634	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:11892634C>T	ENST00000357901.4	+	4	2097	c.1995C>T	c.(1993-1995)caC>caT	p.H665H	ZNF441_ENST00000454339.2_Silent_p.H598H	NM_152355.2	NP_689568.2	Q8N8Z8	ZN441_HUMAN	zinc finger protein 441	665					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						AAAGGACCCACAGTATGGAGA	0.393													9	27					0	0	1	0	0	T	11892634	C	T	11892634	2	4	81	1	0	0	0	0	0	0	0	1	17971	477	17	2		2	ZNF441	19	11892634	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1549	11892634	47236349	13351	16967											
ZNF439	90594	broad.mit.edu	37	19	11979032	11979032	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:11979032A>G	ENST00000304030.2	+	3	1348	c.1148A>G	c.(1147-1149)aAa>aGa	p.K383R	ZNF439_ENST00000455282.1_Missense_Mutation_p.K247R|ZNF439_ENST00000592534.1_Intron	NM_152262.2	NP_689475.1	Q8NDP4	ZN439_HUMAN	zinc finger protein 439	383					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(7)|pancreas(1)|skin(2)	27						AAACCGTATAAATGCAAGCAA	0.418													5	50					0	0	1	0	0	G	11979032	A	G	11979032	3	3	81	1	0	0	0	0	1	0	0	0	17968	14	1	3	1158	3	ZNF439	19	11979032	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	86398	11979032	47149951	13352	16968											
ZNF69	7620	broad.mit.edu	37	19	12015652	12015652	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:12015652G>A	ENST00000429654.2	+	4	580	c.440G>A	c.(439-441)gGt>gAt	p.G147D	ZNF69_ENST00000340180.5_Missense_Mutation_p.G133D			Q9UC07	ZNF69_HUMAN	zinc finger protein 69	147						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|large_intestine(1)|skin(2)	4				Lung(535;0.011)		AACATCAGAGGTGACATTGGA	0.413													14	192					0	0	1	0	0	A	12015652	G	A	12015652	3	1	81	1	0	0	0	0	1	0	0	0	18151	1261	44	2	412	2	ZNF69	19	12015652	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	36620	12015652	47113331	13353	16969											
ZNF69	7620	broad.mit.edu	37	19	12015805	12015806	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:12015805_12015806insA	ENST00000429654.2	+	4	733_734	c.593_594insA	c.(592-597)ggaaaafs	p.GK198fs	ZNF69_ENST00000340180.5_Intron			Q9UC07	ZNF69_HUMAN	zinc finger protein 69	198						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|large_intestine(1)|skin(2)	4				Lung(535;0.011)		AAAGAATGTGGAAAAACTTTTA	0.401													12	128	---	---	---	---						A	12015806	-	A	12015805	7	5	81	1	0	1	1	0	0	0	0	0	18151	1189	41	0		0	ZNF69	19	12015805	Frame_Shift_Ins	INS	-	TCGA-DU-6392-01A-11D-1705-08	153	12015805	47113178	13354	16970											
ZNF700	90592	broad.mit.edu	37	19	12059609	12059609	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:12059609A>C	ENST00000482090.1	+	3	1134	c.716A>C	c.(715-717)aAa>aCa	p.K239T	ZNF763_ENST00000591944.1_Intron|ZNF763_ENST00000590798.1_Intron|ZNF700_ENST00000254321.5_Missense_Mutation_p.K257T|CTD-2006C1.12_ENST00000586394.1_RNA|ZNF763_ENST00000538752.1_Intron			Q9H0M5	ZN700_HUMAN	zinc finger protein 700	257					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding		ZNF700/MAST1_ENST00000251472(2)	breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	33						CAATGTGGTAAATCCTTTACT	0.353													5	45					0	0	1	0	0	C	12059609	A	C	12059609	3	2	81	1	0	0	0	0	1	0	0	0	18160	14	1	5	784	5	ZNF700	19	12059609	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	43804	12059609	47069374	13355	16971											
ZNF700	90592	broad.mit.edu	37	19	12060209	12060209	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:12060209C>T	ENST00000482090.1	+	3	1734	c.1316C>T	c.(1315-1317)tCt>tTt	p.S439F	ZNF763_ENST00000591944.1_Intron|ZNF763_ENST00000590798.1_Intron|ZNF700_ENST00000254321.5_Missense_Mutation_p.S457F|CTD-2006C1.12_ENST00000586394.1_RNA|ZNF763_ENST00000538752.1_Intron			Q9H0M5	ZN700_HUMAN	zinc finger protein 700	457					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding		ZNF700/MAST1_ENST00000251472(2)	breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	33						GCCTTCAGATCTACCTCACAC	0.483													20	30					0	0	1	0	0	T	12060209	C	T	12060209	3	4	81	1	0	0	0	0	1	0	0	0	18160	913	32	2	1384	2	ZNF700	19	12060209	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	600	12060209	47068774	13356	16972											
ZNF433	163059	broad.mit.edu	37	19	12126905	12126905	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:12126905A>C	ENST00000419886.2	-	5	963	c.672T>G	c.(670-672)tgT>tgG	p.C224W	ZNF433_ENST00000344980.6_Missense_Mutation_p.C259W|CTD-2006C1.2_ENST00000495324.1_RNA|CTD-2006C1.2_ENST00000476474.1_RNA|CTD-2006C1.2_ENST00000406892.2_RNA			Q8N7K0	ZN433_HUMAN	zinc finger protein 433	259					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(1)|prostate(1)|skin(1)	14						ATGCTTTCCCACATTCATTAC	0.408													4	58					0	0	1	0	0	C	12126905	A	C	12126905	3	2	81	1	0	0	0	0	1	0	0	0	17964	157	6	5	1248	5	ZNF433	19	12126905	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	66696	12126905	47002078	13357	16973											
ZNF136	7695	broad.mit.edu	37	19	12297985	12297985	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:12297985G>A	ENST00000343979.4	+	4	932	c.792G>A	c.(790-792)ctG>ctA	p.L264L	ZNF136_ENST00000398616.2_Silent_p.L198L	NM_003437.3	NP_003428.1	P52737	ZN136_HUMAN	zinc finger protein 136	264					negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|transcription corepressor activity|zinc ion binding			NS(1)|biliary_tract(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	18						TTCATTCTCTGAGTTCATTTC	0.393													28	57					0	0	1	0	0	A	12297985	G	A	12297985	2	1	81	1	0	0	0	0	0	0	0	1	17784	1277	45	2		2	ZNF136	19	12297985	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	171080	12297985	46830998	13358	16974											
ZNF136	7695	broad.mit.edu	37	19	12298441	12298441	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:12298441A>G	ENST00000343979.4	+	4	1388	c.1248A>G	c.(1246-1248)ggA>ggG	p.G416G	ZNF136_ENST00000398616.2_Silent_p.G350G	NM_003437.3	NP_003428.1	P52737	ZN136_HUMAN	zinc finger protein 136	416					negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|transcription corepressor activity|zinc ion binding			NS(1)|biliary_tract(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	18						CTCACACTGGAGAGAAACCTT	0.363													18	24					0	0	1	0	0	G	12298441	A	G	12298441	2	3	81	1	0	0	0	0	0	0	0	1	17784	291	11	3		3	ZNF136	19	12298441	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	456	12298441	46830542	13359	16975											
ZNF44	51710	broad.mit.edu	37	19	12383465	12383465	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:12383465C>T	ENST00000356109.5	-	5	1867	c.1749G>A	c.(1747-1749)aaG>aaA	p.K583K	ZNF44_ENST00000355684.5_Silent_p.K535K	NM_001164276.1	NP_001157748.1	P15621	ZNF44_HUMAN	zinc finger protein 44	583					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton|nucleus	DNA binding|protein binding|zinc ion binding			ovary(1)	1		Renal(1328;0.157)		GBM - Glioblastoma multiforme(1328;0.0164)|Lung(535;0.179)		TCCTGCATTGCTTACATTCAT	0.408													6	7					0	0	1	0	0	T	12383465	C	T	12383465	2	4	81	1	0	0	0	0	0	0	0	1	17969	796	28	2		2	ZNF44	19	12383465	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	85024	12383465	46745518	13360	16976											
ZNF44	51710	broad.mit.edu	37	19	12383810	12383810	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:12383810G>T	ENST00000356109.5	-	5	1522	c.1404C>A	c.(1402-1404)ccC>ccA	p.P468P	ZNF44_ENST00000355684.5_Silent_p.P420P	NM_001164276.1	NP_001157748.1	P15621	ZNF44_HUMAN	zinc finger protein 44	468					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton|nucleus	DNA binding|protein binding|zinc ion binding			ovary(1)	1		Renal(1328;0.157)		GBM - Glioblastoma multiforme(1328;0.0164)|Lung(535;0.179)		TGCATTCATAGGGTTTCTCTC	0.433													19	27					1.67942e-08	2.00033e-08	1	1	0	T	12383810	G	T	12383810	2	4	81	1	0	0	0	0	0	0	0	1	17969	987	35	4		4	ZNF44	19	12383810	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	345	12383810	46745173	13361	16977											
ZNF44	51710	broad.mit.edu	37	19	12383872	12383872	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:12383872T>C	ENST00000356109.5	-	5	1460	c.1342A>G	c.(1342-1344)Aaa>Gaa	p.K448E	ZNF44_ENST00000355684.5_Missense_Mutation_p.K400E	NM_001164276.1	NP_001157748.1	P15621	ZNF44_HUMAN	zinc finger protein 44	448					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton|nucleus	DNA binding|protein binding|zinc ion binding			ovary(1)	1		Renal(1328;0.157)		GBM - Glioblastoma multiforme(1328;0.0164)|Lung(535;0.179)		TCAAAGGCTTTCCCACATACT	0.438													5	44					0	0	1	0	0	C	12383872	T	C	12383872	3	2	81	1	0	0	0	0	1	0	0	0	17969	1792	62	3	653	3	ZNF44	19	12383872	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	62	12383872	46745111	13362	16978											
ZNF442	79973	broad.mit.edu	37	19	12460635	12460635	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:12460635T>C	ENST00000242804.4	-	6	2346	c.1764A>G	c.(1762-1764)cgA>cgG	p.R588R	ZNF442_ENST00000438182.1_Silent_p.R519R	NM_030824.2	NP_110451.1	Q9H7R0	ZN442_HUMAN	zinc finger protein 442	588					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	31						TTTCATGTCCTCGAAGGAAAC	0.428													12	94					0	0	1	0	0	C	12460635	T	C	12460635	2	2	81	1	0	0	0	0	0	0	0	1	17972	1538	54	3		3	ZNF442	19	12460635	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	76763	12460635	46668348	13363	16979											
ZNF442	79973	broad.mit.edu	37	19	12461740	12461741	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:12461740_12461741insA	ENST00000242804.4	-	6	1240_1241	c.658_659insT	c.(658-660)tggfs	p.W220fs	ZNF442_ENST00000438182.1_Frame_Shift_Ins_p.W151fs	NM_030824.2	NP_110451.1	Q9H7R0	ZN442_HUMAN	zinc finger protein 442	220					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	31						TAAACTAGGCCAAAAAAAGGCT	0.401													43	100	---	---	---	---						A	12461741	-	A	12461740	7	5	81	1	0	1	1	0	0	0	0	0	17972	595	21	0	1228	0	ZNF442	19	12461740	Frame_Shift_Ins	INS	-	TCGA-DU-6392-01A-11D-1705-08	1105	12461740	46667243	13364	16980											
ZNF442	79973	broad.mit.edu	37	19	12463807	12463807	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:12463807C>T	ENST00000242804.4	-	4	782	c.200G>A	c.(199-201)tGt>tAt	p.C67Y	ZNF442_ENST00000438182.1_Intron	NM_030824.2	NP_110451.1	Q9H7R0	ZN442_HUMAN	zinc finger protein 442	67	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	31						TTTACCTATACAGTCCAGGTT	0.418													12	117					0	0	1	0	0	T	12463807	C	T	12463807	3	4	81	1	0	0	0	0	1	0	0	0	17972	478	17	2	1695	2	ZNF442	19	12463807	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2067	12463807	46665176	13365	16981											
ZNF799	90576	broad.mit.edu	37	19	12501583	12501583	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:12501583C>T	ENST00000419318.1	-	4	2282	c.1533G>A	c.(1531-1533)tgG>tgA	p.W511*	ZNF799_ENST00000430385.3_Nonsense_Mutation_p.W543*|CTD-3105H18.14_ENST00000435033.1_Intron			Q96GE5	ZN799_HUMAN	zinc finger protein 799	543					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2)	19						AGCAAGTGAGCCAAGAGAATG	0.398													26	39					0	0	1	0	0	T	12501583	C	T	12501583	4	4	81	1	0	0	0	0	0	1	0	0	18215	740	26	2	306	2	ZNF799	19	12501583	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	37776	12501583	46627400	13366	16982											
ZNF799	90576	broad.mit.edu	37	19	12502896	12502896	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:12502896G>A	ENST00000419318.1	-	4	969	c.220C>T	c.(220-222)Cgt>Tgt	p.R74C	CTD-3105H18.16_ENST00000595562.1_Missense_Mutation_p.R106C|ZNF799_ENST00000430385.3_Missense_Mutation_p.R106C|CTD-3105H18.14_ENST00000435033.1_Intron			Q96GE5	ZN799_HUMAN	zinc finger protein 799	106	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2)	19						CCACTCATACGGCTTTCATAT	0.413													30	51					0	0	1	0	0	A	12502896	G	A	12502896	3	1	81	1	0	0	0	0	1	0	0	0	18215	1116	39	1	1619	1	ZNF799	19	12502896	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1313	12502896	46626087	13367	16983											
ZNF799	90576	broad.mit.edu	37	19	12503017	12503017	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:12503017A>G	ENST00000419318.1	-	4	848	c.99T>C	c.(97-99)tgT>tgC	p.C33C	CTD-3105H18.16_ENST00000595562.1_Silent_p.C65C|ZNF799_ENST00000430385.3_Silent_p.C65C|CTD-3105H18.14_ENST00000435033.1_Intron|ZNF799_ENST00000595766.1_3'UTR			Q96GE5	ZN799_HUMAN	zinc finger protein 799	65	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2)	19						CTAACATACGACATCTGTAAA	0.318													5	34					0	0	1	0	0	G	12503017	A	G	12503017	2	3	81	1	0	0	0	0	0	0	0	1	18215	273	10	3		3	ZNF799	19	12503017	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	121	12503017	46625966	13368	16984											
ZNF443	10224	broad.mit.edu	37	19	12542575	12542575	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:12542575T>C	ENST00000301547.5	-	4	608	c.411A>G	c.(409-411)ggA>ggG	p.G137G	CTD-3105H18.16_ENST00000595562.1_Intron	NM_005815.4	NP_005806	Q9Y2A4	ZN443_HUMAN	zinc finger protein 443	137					induction of apoptosis|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|pancreas(1)|prostate(1)	28						CTGGCTTCTCTCCACATTCAT	0.418													8	81					0	0	1	0	0	C	12542575	T	C	12542575	2	2	81	1	0	0	0	0	0	0	0	1	17973	1538	54	3		3	ZNF443	19	12542575	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	39558	12542575	46586408	13369	16985											
ZNF564	163050	broad.mit.edu	37	19	12638021	12638021	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:12638021T>A	ENST00000339282.7	-	4	1097	c.901A>T	c.(901-903)Att>Ttt	p.I301F	CTD-2192J16.20_ENST00000593682.1_3'UTR|ZNF709_ENST00000428311.1_Intron	NM_144976.3	NP_659413.1			zinc finger protein 564											endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18						GTGTGCCTAATCATATGACTT	0.383													16	39					0	0	1	0	0	A	12638021	T	A	12638021	3	1	81	1	0	0	0	0	1	0	0	0	18052	1435	50	4	764	4	ZNF564	19	12638021	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	95446	12638021	46490962	13370	16986											
ZNF564	163050	broad.mit.edu	37	19	12638453	12638453	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:12638453G>A	ENST00000339282.7	-	4	665	c.469C>T	c.(469-471)Cga>Tga	p.R157*	CTD-2192J16.20_ENST00000593682.1_3'UTR|ZNF709_ENST00000428311.1_Intron	NM_144976.3	NP_659413.1			zinc finger protein 564									p.R157*(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18						TCATGTCTTCGAAAGGATTGA	0.418													10	82					0	0	1	0	0	A	12638453	G	A	12638453	4	1	81	1	0	0	0	0	0	1	0	0	18052	1066	37	1	1196	1	ZNF564	19	12638453	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	432	12638453	46490530	13371	16987											
ZNF490	57474	broad.mit.edu	37	19	12719982	12719982	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:12719982T>C	ENST00000311437.6	-	2	274	c.152A>G	c.(151-153)aAg>aGg	p.K51R	ZNF490_ENST00000465656.1_5'UTR	NM_020714.2	NP_065765.1	Q9ULM2	ZN490_HUMAN	zinc finger protein 490	51					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	18						AGTTTGAGTCTTGATGCTTTG	0.423													5	32					0	0	1	0	0	C	12719982	T	C	12719982	3	2	81	1	0	0	0	0	1	0	0	0	17998	1609	56	3	1453	3	ZNF490	19	12719982	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	81529	12719982	46409001	13372	16988											
ZNF791	163049	broad.mit.edu	37	19	12735514	12735514	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:12735514C>T	ENST00000343325.4	+	3	343	c.181C>T	c.(181-183)Cga>Tga	p.R61*	ZNF791_ENST00000540038.1_5'UTR|ZNF791_ENST00000446165.1_Intron|ZNF490_ENST00000465656.1_Intron|ZNF791_ENST00000458122.3_Nonsense_Mutation_p.R29*	NM_153358.2	NP_699189.2	Q3KP31	ZN791_HUMAN	zinc finger protein 791	61	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)	19						AAACCAAGGACGAAATCTAAG	0.363													3	13					0	0	1	0	0	T	12735514	C	T	12735514	4	4	81	1	0	0	0	0	0	1	0	0	18212	528	19	1	191	1	ZNF791	19	12735514	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	15532	12735514	46393469	13373	16989											
ZNF791	163049	broad.mit.edu	37	19	12738638	12738638	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:12738638C>A	ENST00000343325.4	+	4	457	c.295C>A	c.(295-297)Cca>Aca	p.P99T	ZNF791_ENST00000540038.1_5'UTR|ZNF791_ENST00000446165.1_3'UTR|ZNF490_ENST00000465656.1_Intron|ZNF791_ENST00000458122.3_Missense_Mutation_p.P67T	NM_153358.2	NP_699189.2	Q3KP31	ZN791_HUMAN	zinc finger protein 791	99					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)	19						CGGAGTAAAACCATATGAGTG	0.453													46	93					8.20599e-20	1.06958e-19	1	1	0	A	12738638	C	A	12738638	3	1	81	1	0	0	0	0	1	0	0	0	18212	507	18	5	309	5	ZNF791	19	12738638	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3124	12738638	46390345	13374	16990											
ZNF791	163049	broad.mit.edu	37	19	12738655	12738655	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:12738655C>A	ENST00000343325.4	+	4	474	c.312C>A	c.(310-312)atC>atA	p.I104I	ZNF791_ENST00000540038.1_5'UTR|ZNF791_ENST00000446165.1_3'UTR|ZNF490_ENST00000465656.1_Intron|ZNF791_ENST00000458122.3_Silent_p.I72I	NM_153358.2	NP_699189.2	Q3KP31	ZN791_HUMAN	zinc finger protein 791	104					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)	19						AGTGTACTATCTGTGGAAAAG	0.433													16	111					0.000566183	0.000611251	1	1	0	A	12738655	C	A	12738655	2	1	81	1	0	0	0	0	0	0	0	1	18212	903	32	4		4	ZNF791	19	12738655	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	17	12738655	46390328	13375	16991											
ZNF791	163049	broad.mit.edu	37	19	12738674	12738674	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:12738674C>T	ENST00000343325.4	+	4	493	c.331C>T	c.(331-333)Cgt>Tgt	p.R111C	ZNF791_ENST00000540038.1_Missense_Mutation_p.R2C|ZNF791_ENST00000446165.1_3'UTR|ZNF490_ENST00000465656.1_Intron|ZNF791_ENST00000458122.3_Missense_Mutation_p.R79C	NM_153358.2	NP_699189.2	Q3KP31	ZN791_HUMAN	zinc finger protein 791	111					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)	19						AGCCTTCATGCGTCTCTCATC	0.423													42	85					0	0	1	0	0	T	12738674	C	T	12738674	3	4	81	1	0	0	0	0	1	0	0	0	18212	768	27	1	345	1	ZNF791	19	12738674	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	19	12738674	46390309	13376	16992											
ZNF791	163049	broad.mit.edu	37	19	12739032	12739032	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:12739032C>A	ENST00000343325.4	+	4	851	c.689C>A	c.(688-690)tCt>tAt	p.S230Y	ZNF791_ENST00000540038.1_Missense_Mutation_p.S121Y|ZNF791_ENST00000446165.1_3'UTR|ZNF490_ENST00000465656.1_Intron|ZNF791_ENST00000458122.3_Missense_Mutation_p.S198Y	NM_153358.2	NP_699189.2	Q3KP31	ZN791_HUMAN	zinc finger protein 791	230					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)	19						TGTTCCAGTTCTATTCGAGTA	0.428													15	25					0.000422831	0.00045788	1	1	0	A	12739032	C	A	12739032	3	1	81	1	0	0	0	0	1	0	0	0	18212	913	32	4	703	4	ZNF791	19	12739032	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	358	12739032	46389951	13377	16993											
ZNF791	163049	broad.mit.edu	37	19	12740023	12740023	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:12740023C>A	ENST00000343325.4	+	4	1842	c.1680C>A	c.(1678-1680)gcC>gcA	p.A560A	ZNF791_ENST00000540038.1_Silent_p.A451A|ZNF791_ENST00000446165.1_3'UTR|ZNF490_ENST00000465656.1_Intron|ZNF791_ENST00000458122.3_Silent_p.A528A	NM_153358.2	NP_699189.2	Q3KP31	ZN791_HUMAN	zinc finger protein 791	560					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)	19						GTGGAAAAGCCTTCAGTGTGT	0.343													5	70					3.59834e-05	3.99423e-05	1	1	0	A	12740023	C	A	12740023	2	1	81	1	0	0	0	0	0	0	0	1	18212	668	24	4		4	ZNF791	19	12740023	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	991	12740023	46388960	13378	16994											
MAN2B1	4125	broad.mit.edu	37	19	12760167	12760167	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:12760167C>T	ENST00000456935.2	-	19	2383	c.2343G>A	c.(2341-2343)cgG>cgA	p.R781R	MAN2B1_ENST00000221363.4_Silent_p.R780R	NM_000528.3|NM_001173498.1	NP_000519.2|NP_001166969.1	O00754	MA2B1_HUMAN	mannosidase, alpha, class 2B, member 1	781					protein deglycosylation	lysosome	alpha-mannosidase activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						TGATGTAAATCCGGGTGTTGA	0.572													4	10					0	0	1	0	0	T	12760167	C	T	12760167	2	4	81	1	0	0	0	0	0	0	0	1	9266	842	30	2		2	MAN2B1	19	12760167	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	20144	12760167	46368816	13379	16995											
MAN2B1	4125	broad.mit.edu	37	19	12762982	12762982	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:12762982C>T	ENST00000456935.2	-	16	2071	c.2031G>A	c.(2029-2031)caG>caA	p.Q677Q	MAN2B1_ENST00000221363.4_Silent_p.Q676Q	NM_000528.3|NM_001173498.1	NP_000519.2|NP_001166969.1	O00754	MA2B1_HUMAN	mannosidase, alpha, class 2B, member 1	677					protein deglycosylation	lysosome	alpha-mannosidase activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						CCAGGTGGATCTGAGCCCAGC	0.557													18	45					0	0	1	0	0	T	12762982	C	T	12762982	2	4	81	1	0	0	0	0	0	0	0	1	9266	912	32	2		2	MAN2B1	19	12762982	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2815	12762982	46366001	13380	16996											
MAN2B1	4125	broad.mit.edu	37	19	12776319	12776319	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:12776319C>T	ENST00000456935.2	-	3	323	c.283G>A	c.(283-285)Gcc>Acc	p.A95T	MAN2B1_ENST00000221363.4_Missense_Mutation_p.A95T|CTD-2192J16.24_ENST00000597961.1_Missense_Mutation_p.A92T	NM_000528.3|NM_001173498.1	NP_000519.2|NP_001166969.1	O00754	MA2B1_HUMAN	mannosidase, alpha, class 2B, member 1	95					protein deglycosylation	lysosome	alpha-mannosidase activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						TGCACACCGGCGTGCTGGATG	0.552													29	64					0	0	1	0	0	T	12776319	C	T	12776319	3	4	81	1	0	0	0	0	1	0	0	0	9266	768	27	1	2840	1	MAN2B1	19	12776319	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	13337	12776319	46352664	13381	16997											
TNPO2	30000	broad.mit.edu	37	19	12812258	12812258	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:12812258C>T	ENST00000425528.1	-	25	2953	c.2596G>A	c.(2596-2598)Ggc>Agc	p.G866S	TNPO2_ENST00000441499.1_Missense_Mutation_p.G856S|TNPO2_ENST00000450764.2_Missense_Mutation_p.G856S|TNPO2_ENST00000356861.5_Missense_Mutation_p.G856S|TNPO2_ENST00000588216.1_Missense_Mutation_p.G856S|TNPO2_ENST00000592287.1_Missense_Mutation_p.G866S			O14787	TNPO2_HUMAN	transportin 2	866					intracellular protein transport	cytoplasm|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						TCTTTGAAGCCGTGGAGAATC	0.592													27	22					0	0	1	0	0	T	12812258	C	T	12812258	3	4	81	1	0	0	0	0	1	0	0	0	16396	652	23	1	101	1	TNPO2	19	12812258	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	35939	12812258	46316725	13382	16998											
TNPO2	30000	broad.mit.edu	37	19	12821552	12821552	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:12821552T>C	ENST00000425528.1	-	13	1510	c.1153A>G	c.(1153-1155)Aat>Gat	p.N385D	TNPO2_ENST00000441499.1_Missense_Mutation_p.N385D|TNPO2_ENST00000450764.2_Missense_Mutation_p.N385D|TNPO2_ENST00000356861.5_Missense_Mutation_p.N385D|TNPO2_ENST00000588216.1_Missense_Mutation_p.N385D|TNPO2_ENST00000592287.1_Missense_Mutation_p.N385D			O14787	TNPO2_HUMAN	transportin 2	385					intracellular protein transport	cytoplasm|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CGGAAGACATTGGCGAGGACG	0.652													8	4					0	0	1	0	0	C	12821552	T	C	12821552	3	2	81	1	0	0	0	0	1	0	0	0	16396	1812	63	3	1592	3	TNPO2	19	12821552	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	9294	12821552	46307431	13383	16999											
TNPO2	30000	broad.mit.edu	37	19	12822220	12822220	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:12822220C>T	ENST00000425528.1	-	12	1364	c.1007G>A	c.(1006-1008)cGc>cAc	p.R336H	TNPO2_ENST00000441499.1_Missense_Mutation_p.R336H|TNPO2_ENST00000450764.2_Missense_Mutation_p.R336H|TNPO2_ENST00000356861.5_Missense_Mutation_p.R336H|TNPO2_ENST00000589956.1_5'UTR|TNPO2_ENST00000588216.1_Missense_Mutation_p.R336H|TNPO2_ENST00000592287.1_Missense_Mutation_p.R336H			O14787	TNPO2_HUMAN	transportin 2	336					intracellular protein transport	cytoplasm|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity	p.R336H(2)		autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CTTGTGGAAGCGTGGCTTGAT	0.617													26	66					0	0	1	0	0	T	12822220	C	T	12822220	3	4	81	1	0	0	0	0	1	0	0	0	16396	768	27	1	1742	1	TNPO2	19	12822220	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	668	12822220	46306763	13384	17000											
HOOK2	29911	broad.mit.edu	37	19	12883718	12883718	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:12883718C>T	ENST00000264827.5	-	5	434	c.264G>A	c.(262-264)gcG>gcA	p.A88A	HOOK2_ENST00000589965.1_Intron|HOOK2_ENST00000397668.3_Silent_p.A88A	NM_001100176.1	NP_001093646.1	Q96ED9	HOOK2_HUMAN	hook microtubule-tethering protein 2	88	Required for localization to the centrosome and induction of aggresome formation.|Sufficient for interaction with microtubules.				early endosome to late endosome transport|endocytosis|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|protein transport	centrosome|FHF complex|microtubule	identical protein binding|microtubule binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(5)|skin(1)	20						ACACAGGATGCGCCAGGACCT	0.592													16	38					0	0	1	0	0	T	12883718	C	T	12883718	2	4	81	1	0	0	0	0	0	0	0	1	7324	755	27	1		1	HOOK2	19	12883718	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	61498	12883718	46245265	13385	17001											
MAST1	22983	broad.mit.edu	37	19	12962830	12962830	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:12962830C>T	ENST00000251472.4	+	8	896	c.857C>T	c.(856-858)gCg>gTg	p.A286V	MAST1_ENST00000591495.1_Missense_Mutation_p.A282V	NM_014975.2	NP_055790.1	Q9Y2H9	MAST1_HUMAN	microtubule associated serine/threonine kinase 1	286					cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						TCACGCCCTGCGAGGCTGCTG	0.612													28	27					0	0	1	0	0	T	12962830	C	T	12962830	3	4	81	1	0	0	0	0	1	0	0	0	9374	768	27	1	887	1	MAST1	19	12962830	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	79112	12962830	46166153	13386	17002											
MAST1	22983	broad.mit.edu	37	19	12963039	12963039	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:12963039C>A	ENST00000251472.4	+	9	1026	c.987C>A	c.(985-987)ggC>ggA	p.G329G	MAST1_ENST00000591495.1_Silent_p.G325G	NM_014975.2	NP_055790.1	Q9Y2H9	MAST1_HUMAN	microtubule associated serine/threonine kinase 1	329					cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						GCCAGCTGGGCCTCACCCGTG	0.672													24	39					2.21704e-12	2.77053e-12	1	1	0	A	12963039	C	A	12963039	2	1	81	1	0	0	0	0	0	0	0	1	9374	726	26	5		5	MAST1	19	12963039	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	209	12963039	46165944	13387	17003											
GCDH	2639	broad.mit.edu	37	19	13008660	13008660	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:13008660C>T	ENST00000222214.5	+	11	1437	c.1226C>T	c.(1225-1227)gCc>gTc	p.A409V	GCDH_ENST00000457854.1_Missense_Mutation_p.A409V|GCDH_ENST00000422947.2_Missense_Mutation_p.A365V|GCDH_ENST00000591470.1_Missense_Mutation_p.A409V			Q92947	GCDH_HUMAN	glutaryl-CoA dehydrogenase	409					lysine catabolic process	mitochondrial matrix	flavin adenine dinucleotide binding|glutaryl-CoA dehydrogenase activity|protein binding			autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)	19						AACCTGGAGGCCGTGAACACC	0.632													12	27					0	0	1	0	0	T	13008660	C	T	13008660	3	4	81	1	0	0	0	0	1	0	0	0	6327	739	26	2	1264	2	GCDH	19	13008660	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	45621	13008660	46120323	13388	17004											
CALR	811	broad.mit.edu	37	19	13051399	13051399	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:13051399G>A	ENST00000316448.5	+	6	820	c.747G>A	c.(745-747)aaG>aaA	p.K249K		NM_004343.3	NP_004334.1	P27797	CALR_HUMAN	calreticulin	249	4 X approximate repeats.|P-domain.				cell cycle arrest|cellular senescence|glucocorticoid receptor signaling pathway|negative regulation of neuron differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of steroid hormone receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of translation|peptide antigen assembly with MHC class I protein complex|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of DNA replication|positive regulation of phagocytosis|post-translational protein modification|protein export from nucleus|protein maturation by protein folding|protein N-linked glycosylation via asparagine|protein stabilization|regulation of apoptosis|sequestering of calcium ion	cytosol|endoplasmic reticulum lumen|extracellular space|MHC class I peptide loading complex|nucleus|perinuclear region of cytoplasm|polysome|proteinaceous extracellular matrix	androgen receptor binding|calcium ion binding|chaperone binding|complement component C1q binding|DNA binding|integrin binding|mRNA binding|protein binding involved in protein folding|sugar binding|ubiquitin protein ligase binding|unfolded protein binding|zinc ion binding			kidney(1)|large_intestine(3)|lung(5)|ovary(1)	10					Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Reteplase(DB00015)|Tenecteplase(DB00031)	ATGCTAAGAAGCCCGAGGACT	0.572													9	34					0	0	1	0	0	A	13051399	G	A	13051399	2	1	81	1	0	0	0	0	0	0	0	1	2610	962	34	2		2	CALR	19	13051399	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	42739	13051399	46077584	13389	17005											
CALR	811	broad.mit.edu	37	19	13054427	13054427	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:13054427C>T	ENST00000316448.5	+	8	1110	c.1037C>T	c.(1036-1038)aCg>aTg	p.T346M		NM_004343.3	NP_004334.1	P27797	CALR_HUMAN	calreticulin	346	C-domain.				cell cycle arrest|cellular senescence|glucocorticoid receptor signaling pathway|negative regulation of neuron differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of steroid hormone receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of translation|peptide antigen assembly with MHC class I protein complex|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of DNA replication|positive regulation of phagocytosis|post-translational protein modification|protein export from nucleus|protein maturation by protein folding|protein N-linked glycosylation via asparagine|protein stabilization|regulation of apoptosis|sequestering of calcium ion	cytosol|endoplasmic reticulum lumen|extracellular space|MHC class I peptide loading complex|nucleus|perinuclear region of cytoplasm|polysome|proteinaceous extracellular matrix	androgen receptor binding|calcium ion binding|chaperone binding|complement component C1q binding|DNA binding|integrin binding|mRNA binding|protein binding involved in protein folding|sugar binding|ubiquitin protein ligase binding|unfolded protein binding|zinc ion binding			kidney(1)|large_intestine(3)|lung(5)|ovary(1)	10					Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Reteplase(DB00015)|Tenecteplase(DB00031)	GGCAACGAGACGTGGGGCGTA	0.602													20	36					0	0	1	0	0	T	13054427	C	T	13054427	3	4	81	1	0	0	0	0	1	0	0	0	2610	536	19	1	1067	1	CALR	19	13054427	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3028	13054427	46074556	13390	17006											
RAD23A	5886	broad.mit.edu	37	19	13059141	13059141	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:13059141G>A	ENST00000586534.1	+	3	446	c.385G>A	c.(385-387)Gcc>Acc	p.A129T	RAD23A_ENST00000541222.1_5'UTR|RAD23A_ENST00000588826.2_3'UTR|RAD23A_ENST00000316856.3_Missense_Mutation_p.A129T|RAD23A_ENST00000592268.1_Missense_Mutation_p.A129T			P54725	RD23A_HUMAN	RAD23 homolog A (S. cerevisiae)	129					interspecies interaction between organisms|nucleotide-excision repair|positive regulation of viral genome replication|proteasomal ubiquitin-dependent protein catabolic process|regulation of proteasomal ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	damaged DNA binding|polyubiquitin binding|single-stranded DNA binding			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)	12						AGAGGAATCCGCCCCCACGAC	0.642								Nucleotide excision repair (NER)					11	25					0	0	1	0	0	A	13059141	G	A	13059141	3	1	81	1	0	0	0	0	1	0	0	0	13034	1087	38	1	395	1	RAD23A	19	13059141	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	4714	13059141	46069842	13391	17007											
RAD23A	5886	broad.mit.edu	37	19	13063631	13063631	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:13063631C>A	ENST00000586534.1	+	8	1003	c.942C>A	c.(940-942)atC>atA	p.I314I	RAD23A_ENST00000541222.1_Silent_p.I149I|RAD23A_ENST00000316856.3_Silent_p.I313I|RAD23A_ENST00000592268.1_Intron			P54725	RD23A_HUMAN	RAD23 homolog A (S. cerevisiae)	314					interspecies interaction between organisms|nucleotide-excision repair|positive regulation of viral genome replication|proteasomal ubiquitin-dependent protein catabolic process|regulation of proteasomal ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	damaged DNA binding|polyubiquitin binding|single-stranded DNA binding			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)	12						TGAACTACATCCAGGTGACGC	0.622								Nucleotide excision repair (NER)					16	29					2.32078e-09	2.80257e-09	1	1	0	A	13063631	C	A	13063631	2	1	81	1	0	0	0	0	0	0	0	1	13034	845	30	5		5	RAD23A	19	13063631	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	4490	13063631	46065352	13392	17008											
NFIX	4784	broad.mit.edu	37	19	13184238	13184238	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:13184238C>T	ENST00000358552.3	+	3	622	c.622C>T	c.(622-624)Cac>Tac	p.H208Y	NFIX_ENST00000360105.4_Missense_Mutation_p.H212Y|NFIX_ENST00000587760.1_Missense_Mutation_p.H201Y|NFIX_ENST00000592199.1_Missense_Mutation_p.H209Y|NFIX_ENST00000588680.1_3'UTR|NFIX_ENST00000585575.1_Missense_Mutation_p.H201Y|NFIX_ENST00000397661.2_Missense_Mutation_p.H209Y|NFIX_ENST00000587260.1_Missense_Mutation_p.H208Y|NFIX_ENST00000588228.1_Missense_Mutation_p.H162Y			Q14938	NFIX_HUMAN	nuclear factor I/X (CCAAT-binding transcription factor)	209					DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(19;8.2e-22)			CTCTTCAGGGCACTTAAGTTT	0.532													14	30					0	0	1	0	0	T	13184238	C	T	13184238	3	4	81	1	0	0	0	0	1	0	0	0	10421	710	25	2	639	2	NFIX	19	13184238	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	120607	13184238	45944745	13393	17009											
NFIX	4784	broad.mit.edu	37	19	13184288	13184288	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:13184288G>A	ENST00000358552.3	+	3	672	c.672G>A	c.(670-672)acG>acA	p.T224T	NFIX_ENST00000360105.4_Silent_p.T228T|NFIX_ENST00000587760.1_Silent_p.T217T|NFIX_ENST00000592199.1_Silent_p.T225T|NFIX_ENST00000588680.1_3'UTR|NFIX_ENST00000585575.1_Silent_p.T217T|NFIX_ENST00000397661.2_Silent_p.T225T|NFIX_ENST00000587260.1_Silent_p.T224T|NFIX_ENST00000588228.1_Silent_p.T178T			Q14938	NFIX_HUMAN	nuclear factor I/X (CCAAT-binding transcription factor)	225					DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(19;8.2e-22)			GGAATGTGACGGAGCTGGTGA	0.532													21	33					0	0	1	0	0	A	13184288	G	A	13184288	2	1	81	1	0	0	0	0	0	0	0	1	10421	1103	39	1		1	NFIX	19	13184288	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	50	13184288	45944695	13394	17010											
NFIX	4784	broad.mit.edu	37	19	13184823	13184823	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:13184823C>A	ENST00000358552.3	+	4	798	c.798C>A	c.(796-798)acC>acA	p.T266T	NFIX_ENST00000360105.4_Silent_p.T270T|NFIX_ENST00000587760.1_Silent_p.T259T|NFIX_ENST00000592199.1_Silent_p.T267T|NFIX_ENST00000588680.1_3'UTR|NFIX_ENST00000585575.1_Silent_p.T259T|NFIX_ENST00000397661.2_Silent_p.T267T|NFIX_ENST00000587260.1_Silent_p.T266T|NFIX_ENST00000588228.1_Silent_p.T220T			Q14938	NFIX_HUMAN	nuclear factor I/X (CCAAT-binding transcription factor)	267					DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(19;8.2e-22)			GGTCCATCACCTCCCCTCCTT	0.622													14	51					1.49906e-05	1.6816e-05	1	1	0	A	13184823	C	A	13184823	2	1	81	1	0	0	0	0	0	0	0	1	10421	668	24	4		4	NFIX	19	13184823	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	535	13184823	45944160	13395	17011											
CACNA1A	773	broad.mit.edu	37	19	13346039	13346039	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:13346039G>A	ENST00000360228.5	-	33	5116	c.5117C>T	c.(5116-5118)gCc>gTc	p.A1706V	CACNA1A_ENST00000573710.2_Missense_Mutation_p.A1707V|CACNA1A_ENST00000574822.1_5'UTR	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	1707					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	CCCAATGATGGCATAGATGAA	0.567											OREG0025293	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	4					0	0	1	0	0	A	13346039	G	A	13346039	3	1	81	1	0	0	0	0	1	0	0	0	2556	1203	42	2	2564	2	CACNA1A	19	13346039	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	161216	13346039	45782944	13396	17012											
CCDC130	81576	broad.mit.edu	37	19	13865139	13865139	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:13865139G>T	ENST00000586600.1	+	4	543	c.40G>T	c.(40-42)Gac>Tac	p.D14Y	CCDC130_ENST00000221554.8_Missense_Mutation_p.D14Y			P13994	CC130_HUMAN	coiled-coil domain containing 130	14					response to virus		protein binding			endometrium(2)|kidney(1)|large_intestine(3)|ovary(1)|skin(2)|urinary_tract(1)	10			OV - Ovarian serous cystadenocarcinoma(19;6.02e-23)|Epithelial(5;2.58e-18)			CTATCCTCCAGACTTCAACCC	0.532													7	54					1.12685e-05	1.27052e-05	1	1	0	T	13865139	G	T	13865139	3	4	81	1	0	0	0	0	1	0	0	0	2784	942	33	4	46	4	CCDC130	19	13865139	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	519100	13865139	45263844	13397	17013											
CCDC130	81576	broad.mit.edu	37	19	13873665	13873665	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:13873665C>A	ENST00000586600.1	+	11	1477	c.974C>A	c.(973-975)gCt>gAt	p.A325D	CCDC130_ENST00000221554.8_Missense_Mutation_p.A325D|CCDC130_ENST00000587019.1_3'UTR			P13994	CC130_HUMAN	coiled-coil domain containing 130	325					response to virus		protein binding			endometrium(2)|kidney(1)|large_intestine(3)|ovary(1)|skin(2)|urinary_tract(1)	10			OV - Ovarian serous cystadenocarcinoma(19;6.02e-23)|Epithelial(5;2.58e-18)			CCAGAGGAGGCTGCCCAGGAC	0.701													3	8					0.004672	0.00489345	1	1	0	A	13873665	C	A	13873665	3	1	81	1	0	0	0	0	1	0	0	0	2784	797	28	4	1008	4	CCDC130	19	13873665	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	8526	13873665	45255318	13398	17014											
ZSWIM4	65249	broad.mit.edu	37	19	13915803	13915803	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:13915803C>T	ENST00000254323.2	+	3	742	c.553C>T	c.(553-555)Cgg>Tgg	p.R185W		NM_023072.2	NP_075560.2	Q9H7M6	ZSWM4_HUMAN	zinc finger, SWIM-type containing 4	185							zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27			OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19)			GGTGGAGCTGCGGCTGCCCAT	0.642											OREG0025298	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	37					0	0	1	0	0	T	13915803	C	T	13915803	3	4	81	1	0	0	0	0	1	0	0	0	18283	759	27	1	563	1	ZSWIM4	19	13915803	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	42138	13915803	45213180	13399	17015											
ZSWIM4	65249	broad.mit.edu	37	19	13941042	13941042	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:13941042T>C	ENST00000254323.2	+	13	2337	c.2148T>C	c.(2146-2148)taT>taC	p.Y716Y	ZSWIM4_ENST00000440752.2_Silent_p.Y550Y	NM_023072.2	NP_075560.2	Q9H7M6	ZSWM4_HUMAN	zinc finger, SWIM-type containing 4	716							zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27			OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19)			AGAACTGGTATTCCTTATTCA	0.602													10	32					0	0	1	0	0	C	13941042	T	C	13941042	2	2	81	1	0	0	0	0	0	0	0	1	18283	1500	52	3		3	ZSWIM4	19	13941042	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	25239	13941042	45187941	13400	17016											
ZSWIM4	65249	broad.mit.edu	37	19	13941548	13941548	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:13941548G>A	ENST00000254323.2	+	13	2843	c.2654G>A	c.(2653-2655)cGc>cAc	p.R885H	ZSWIM4_ENST00000440752.2_Missense_Mutation_p.R719H	NM_023072.2	NP_075560.2	Q9H7M6	ZSWM4_HUMAN	zinc finger, SWIM-type containing 4	885							zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27			OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19)			ATTCTGCGCCGCTGGACTCTC	0.697													6	73					0	0	1	0	0	A	13941548	G	A	13941548	3	1	81	1	0	0	0	0	1	0	0	0	18283	1087	38	1	2704	1	ZSWIM4	19	13941548	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	506	13941548	45187435	13401	17017											
C19orf57	79173	broad.mit.edu	37	19	14000930	14000930	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:14000930G>A	ENST00000454313.1	-	6	797	c.739C>T	c.(739-741)Cca>Tca	p.P247S	C19orf57_ENST00000346736.2_Missense_Mutation_p.P247S|C19orf57_ENST00000591586.1_Intron|C19orf57_ENST00000586783.1_Missense_Mutation_p.P247S			Q0VDD7	CS057_HUMAN	chromosome 19 open reading frame 57	247					multicellular organismal development		protein binding			breast(2)|kidney(1)|lung(3)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(19;2e-21)			CCTCTGTCTGGCTTCTCCCCT	0.632													32	51					0	0	1	0	0	A	14000930	G	A	14000930	3	1	81	1	0	0	0	0	1	0	0	0	1951	1203	42	2	1186	2	C19orf57	19	14000930	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	59382	14000930	45128053	13402	17018											
CC2D1A	54862	broad.mit.edu	37	19	14034193	14034193	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:14034193G>A	ENST00000318003.7	+	15	1930	c.1689G>A	c.(1687-1689)cgG>cgA	p.R563R	CC2D1A_ENST00000589606.1_Silent_p.R563R	NM_017721.4	NP_060191.3	Q6P1N0	C2D1A_HUMAN	coiled-coil and C2 domain containing 1A	563					positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus|plasma membrane	DNA binding|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	27			OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)			TGGTCCAGCGGCCTGGCCCGG	0.682													27	43					0	0	1	0	0	A	14034193	G	A	14034193	2	1	81	1	0	0	0	0	0	0	0	1	2744	1190	42	2		2	CC2D1A	19	14034193	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	33263	14034193	45094790	13403	17019											
CC2D1A	54862	broad.mit.edu	37	19	14038837	14038837	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:14038837G>A	ENST00000318003.7	+	23	2689	c.2448G>A	c.(2446-2448)gtG>gtA	p.V816V	CC2D1A_ENST00000589606.1_Silent_p.V816V	NM_017721.4	NP_060191.3	Q6P1N0	C2D1A_HUMAN	coiled-coil and C2 domain containing 1A	816					positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus|plasma membrane	DNA binding|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	27			OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)			CGGCAGCTGTGCCCACAGTGA	0.627													8	67					0	0	1	0	0	A	14038837	G	A	14038837	2	1	81	1	0	0	0	0	0	0	0	1	2744	1306	46	2		2	CC2D1A	19	14038837	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	4644	14038837	45090146	13404	17020											
PODNL1	79883	broad.mit.edu	37	19	14047218	14047218	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:14047218C>T	ENST00000538517.2	-	3	540	c.296G>A	c.(295-297)cGa>cAa	p.R99Q	PODNL1_ENST00000339560.5_Missense_Mutation_p.R101Q|PODNL1_ENST00000538371.2_Missense_Mutation_p.R99Q|PODNL1_ENST00000254320.3_Missense_Mutation_p.E41K	NM_001146255.1	NP_001139727.1	Q6PEZ8	PONL1_HUMAN	podocan-like 1	172	Leu-rich.					proteinaceous extracellular matrix				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|skin(1)	8			OV - Ovarian serous cystadenocarcinoma(19;5.26e-23)			GTTGAGGGTTCGCAGGCCACT	0.627													30	50					0	0	1	0	0	T	14047218	C	T	14047218	3	4	81	1	0	0	0	0	1	0	0	0	12227	884	31	1	1260	1	PODNL1	19	14047218	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	8381	14047218	45081765	13405	17021											
IL27RA	9466	broad.mit.edu	37	19	14160031	14160031	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:14160031C>T	ENST00000263379.2	+	10	1432	c.1307C>T	c.(1306-1308)gCg>gTg	p.A436V		NM_004843.3	NP_004834.1	Q6UWB1	I27RA_HUMAN	interleukin 27 receptor, alpha	436	Fibronectin type-III 3.				cell surface receptor linked signaling pathway|immune response	integral to plasma membrane	transmembrane receptor activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	26						CCCGCCATAGCGTGGGGAGAG	0.637											OREG0025303	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	16	23					0	0	1	0	0	T	14160031	C	T	14160031	3	4	81	1	0	0	0	0	1	0	0	0	7725	768	27	1	1345	1	IL27RA	19	14160031	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	112813	14160031	44968952	13406	17022											
LPHN1	22859	broad.mit.edu	37	19	14263606	14263606	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:14263606G>A	ENST00000340736.6	-	20	3725	c.3428C>T	c.(3427-3429)aCa>aTa	p.T1143I	CTB-55O6.12_ENST00000588387.1_RNA|CTB-55O6.12_ENST00000588658.1_RNA|LPHN1_ENST00000361434.3_Missense_Mutation_p.T1138I	NM_001008701.2	NP_001008701.1	O94910	LPHN1_HUMAN	latrophilin 1	1143					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CTGGGTCCCTGTGTAGTAGCG	0.622													25	42					0	0	1	0	0	A	14263606	G	A	14263606	3	1	81	1	0	0	0	0	1	0	0	0	8960	1377	48	2	1016	2	LPHN1	19	14263606	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	103575	14263606	44865377	13407	17023											
PKN1	5585	broad.mit.edu	37	19	14561175	14561175	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:14561175G>A	ENST00000242783.6	+	5	821	c.656G>A	c.(655-657)cGg>cAg	p.R219Q	PKN1_ENST00000342216.4_Missense_Mutation_p.R225Q	NM_002741.3	NP_002732.3	Q16512	PKN1_HUMAN	protein kinase N1	219					activation of JUN kinase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	endosome|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|GTP-Rho binding|histone binding|histone deacetylase binding|histone kinase activity (H3-T11 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|Rac GTPase binding			breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)	31						GAAGAGCTGCGGCACCACTTC	0.667													5	7					0	0	1	0	0	A	14561175	G	A	14561175	3	1	81	1	0	0	0	0	1	0	0	0	12027	1116	39	1	717	1	PKN1	19	14561175	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	297569	14561175	44567808	13408	17024											
PKN1	5585	broad.mit.edu	37	19	14581099	14581099	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:14581099C>T	ENST00000242783.6	+	19	2583	c.2418C>T	c.(2416-2418)taC>taT	p.Y806Y	PKN1_ENST00000342216.4_Silent_p.Y812Y	NM_002741.3	NP_002732.3	Q16512	PKN1_HUMAN	protein kinase N1	806	Protein kinase.				activation of JUN kinase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	endosome|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|GTP-Rho binding|histone binding|histone deacetylase binding|histone kinase activity (H3-T11 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|Rac GTPase binding			breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)	31						TGCTGCTCTACGAGATGCTGG	0.637													4	24					0	0	1	0	0	T	14581099	C	T	14581099	2	4	81	1	0	0	0	0	0	0	0	1	12027	547	19	1		1	PKN1	19	14581099	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	19924	14581099	44547884	13409	17025											
EMR2	30817	broad.mit.edu	37	19	14877859	14877859	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:14877859G>T	ENST00000315576.3	-	6	869	c.418C>A	c.(418-420)Ctc>Atc	p.L140I	EMR2_ENST00000594294.1_Missense_Mutation_p.L140I|EMR2_ENST00000392967.2_Missense_Mutation_p.L140I|EMR2_ENST00000353005.1_Intron|EMR2_ENST00000346057.1_Missense_Mutation_p.L140I|EMR2_ENST00000601345.1_Missense_Mutation_p.L140I|EMR2_ENST00000594076.1_Intron|EMR2_ENST00000392965.3_Missense_Mutation_p.L140I|EMR2_ENST00000353876.1_Intron|EMR2_ENST00000595839.1_Intron|EMR2_ENST00000596991.2_Missense_Mutation_p.L140I|EMR2_ENST00000392964.3_5'UTR	NM_013447.3	NP_038475.2	Q9UHX3	EMR2_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 2	140	EGF-like 3; calcium-binding.				cell adhesion|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	48						TAGCTGCCGAGGGTGTTGACG	0.582													6	24					0.000157383	0.000171784	1	1	0	T	14877859	G	T	14877859	3	4	81	1	0	0	0	0	1	0	0	0	5133	1000	35	4	2117	4	EMR2	19	14877859	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	296760	14877859	44251124	13410	17026											
OR7C1	26664	broad.mit.edu	37	19	14910065	14910065	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:14910065G>A	ENST00000248073.2	-	1	958	c.884C>T	c.(883-885)aCg>aTg	p.T295M	OR7A5_ENST00000601611.1_Intron	NM_198944.1	NP_945182.1	O76099	OR7C1_HUMAN	olfactory receptor, family 7, subfamily C, member 1	295					sensory perception of smell|spermatogenesis	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(2)|ovary(2)|prostate(1)	18						CTTCATGTCCGTGTTCCTCAG	0.517													27	31					0	0	1	0	0	A	14910065	G	A	14910065	3	1	81	1	0	0	0	0	1	0	0	0	11264	1145	40	1	80	1	OR7C1	19	14910065	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	32206	14910065	44218918	13411	17027											
OR7A10	390892	broad.mit.edu	37	19	14952327	14952327	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:14952327G>A	ENST00000248058.1	-	1	362	c.363C>T	c.(361-363)gaC>gaT	p.D121D		NM_001005190.1	NP_001005190.1	O76100	OR7AA_HUMAN	olfactory receptor, family 7, subfamily A, member 10	121					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|stomach(1)	19	Ovarian(108;0.203)					CCACAAACCGGTCATAGGCCA	0.478													20	30					0	0	1	0	0	A	14952327	G	A	14952327	2	1	81	1	0	0	0	0	0	0	0	1	11261	1252	44	2		2	OR7A10	19	14952327	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	42262	14952327	44176656	13412	17028											
OR7A10	390892	broad.mit.edu	37	19	14952390	14952390	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:14952390C>A	ENST00000248058.1	-	1	299	c.300G>T	c.(298-300)caG>caT	p.Q100H		NM_001005190.1	NP_001005190.1	O76100	OR7AA_HUMAN	olfactory receptor, family 7, subfamily A, member 10	100					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Q100H(1)		NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|stomach(1)	19	Ovarian(108;0.203)					AAAAGCACATCTGGGTGATGC	0.483													4	40					0.150653	0.152522	1	1	0	A	14952390	C	A	14952390	3	1	81	1	0	0	0	0	1	0	0	0	11261	912	32	4	633	4	OR7A10	19	14952390	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	63	14952390	44176593	13413	17029											
CCDC105	126402	broad.mit.edu	37	19	15133743	15133743	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:15133743G>A	ENST00000292574.3	+	7	1394	c.1312G>A	c.(1312-1314)Gcc>Acc	p.A438T		NM_173482.2	NP_775753.2	Q8IYK2	CC105_HUMAN	coiled-coil domain containing 105	438					microtubule cytoskeleton organization	microtubule				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(4)|skin(2)	23						CGAGCTGCTCGCCACGCACAA	0.632													4	8					0	0	1	0	0	A	15133743	G	A	15133743	3	1	81	1	0	0	0	0	1	0	0	0	2758	1087	38	1	1338	1	CCDC105	19	15133743	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	181353	15133743	43995240	13414	17030											
CASP14	23581	broad.mit.edu	37	19	15166060	15166060	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:15166060C>A	ENST00000427043.3	+	5	803	c.495C>A	c.(493-495)gcC>gcA	p.A165A	CASP14_ENST00000221740.1_Silent_p.A165A	NM_012114.2	NP_036246.1	P31944	CASPE_HUMAN	caspase 14, apoptosis-related cysteine peptidase	165					apoptosis|cell differentiation|epidermis development|proteolysis	cytoplasm|nucleus	cysteine-type endopeptidase activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(3)	26						ACACAGATGCCTTGCACGTTT	0.532													4	47					0.00024832	0.000269806	1	1	0	A	15166060	C	A	15166060	2	1	81	1	0	0	0	0	0	0	0	1	2688	668	24	4		4	CASP14	19	15166060	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	32317	15166060	43962923	13415	17031											
ILVBL	10994	broad.mit.edu	37	19	15227253	15227253	+	Missense_Mutation	SNP	G	G	A	rs147018373	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:15227253G>A	ENST00000263383.3	-	11	1406	c.1267C>T	c.(1267-1269)Cgg>Tgg	p.R423W	ILVBL_ENST00000534378.1_Missense_Mutation_p.R316W	NM_006844.3	NP_006835.2	A1L0T0	ILVBL_HUMAN	ilvB (bacterial acetolactate synthase)-like	423						integral to membrane	magnesium ion binding|thiamine pyrophosphate binding|transferase activity			NS(3)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)	26						TCGGCTTCCCGCAGCTCCTCC	0.647													24	49					0	0	1	0	0	A	15227253	G	A	15227253	3	1	81	1	0	0	0	0	1	0	0	0	7759	1086	38	1	655	1	ILVBL	19	15227253	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	61193	15227253	43901730	13416	17032											
ILVBL	10994	broad.mit.edu	37	19	15234030	15234030	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:15234030G>A	ENST00000263383.3	-	4	501	c.362C>T	c.(361-363)aCa>aTa	p.T121I	ILVBL_ENST00000534378.1_Missense_Mutation_p.T14I|ILVBL_ENST00000531635.1_5'UTR	NM_006844.3	NP_006835.2	A1L0T0	ILVBL_HUMAN	ilvB (bacterial acetolactate synthase)-like	121						integral to membrane	magnesium ion binding|thiamine pyrophosphate binding|transferase activity			NS(3)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)	26						AGGGCCTGCTGTCACTGCCGC	0.612													18	34					0	0	1	0	0	A	15234030	G	A	15234030	3	1	81	1	0	0	0	0	1	0	0	0	7759	1377	48	2	1588	2	ILVBL	19	15234030	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	6777	15234030	43894953	13417	17033											
NOTCH3	4854	broad.mit.edu	37	19	15271598	15271598	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:15271598C>T	ENST00000263388.2	-	33	6916	c.6841G>A	c.(6841-6843)Gcc>Acc	p.A2281T		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	2281					Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			GTGGTGGTGGCCATGGCCCCA	0.672													18	28					0	0	1	0	0	T	15271598	C	T	15271598	3	4	81	1	0	0	0	0	1	0	0	0	10597	739	26	2	128	2	NOTCH3	19	15271598	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	37568	15271598	43857385	13418	17034											
NOTCH3	4854	broad.mit.edu	37	19	15291940	15291940	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:15291940G>A	ENST00000263388.2	-	18	2901	c.2826C>T	c.(2824-2826)ggC>ggT	p.G942G		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	942	EGF-like 24.				Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			acgagttcacgccgtccacac	0.677													6	5					0	0	1	0	0	A	15291940	G	A	15291940	2	1	81	1	0	0	0	0	0	0	0	1	10597	1074	38	1		1	NOTCH3	19	15291940	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	20342	15291940	43837043	13419	17035											
NOTCH3	4854	broad.mit.edu	37	19	15303018	15303018	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:15303018G>A	ENST00000263388.2	-	4	507	c.432C>T	c.(430-432)tgC>tgT	p.C144C		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	144	EGF-like 3.		C -> F (in CADASIL).|C -> S (in CADASIL).|C -> Y (in CADASIL).		Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			GTGGGCAGGAGCAGAGGAAGC	0.692													5	9					0	0	1	0	0	A	15303018	G	A	15303018	2	1	81	1	0	0	0	0	0	0	0	1	10597	963	34	2		2	NOTCH3	19	15303018	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	11078	15303018	43825965	13420	17036											
AKAP8	10270	broad.mit.edu	37	19	15484809	15484809	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:15484809G>A	ENST00000269701.2	-	4	219	c.159C>T	c.(157-159)taC>taT	p.Y53Y		NM_005858.3	NP_005849.1	O43823	AKAP8_HUMAN	A kinase (PRKA) anchor protein 8	53					signal transduction	nuclear matrix				breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)	26						AGGCTGGGCCGTAGCTGTAGG	0.622													15	35					0	0	1	0	0	A	15484809	G	A	15484809	2	1	81	1	0	0	0	0	0	0	0	1	454	1140	40	1		1	AKAP8	19	15484809	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	181791	15484809	43644174	13421	17037											
AKAP8L	26993	broad.mit.edu	37	19	15508576	15508576	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:15508576G>T	ENST00000397410.5	-	10	1378	c.1248C>A	c.(1246-1248)caC>caA	p.H416Q	AKAP8L_ENST00000595879.1_5'UTR|AKAP8L_ENST00000595465.2_Missense_Mutation_p.H355Q	NM_014371.2	NP_055186.2	Q9ULX6	AKP8L_HUMAN	A kinase (PRKA) anchor protein 8-like							cytoplasm|nuclear matrix	DEAD/H-box RNA helicase binding|DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|kidney(2)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11						CGTACTTAAAGTGTTCCTTGT	0.517													17	35					6.94344e-10	8.44171e-10	1	1	0	T	15508576	G	T	15508576	3	4	81	1	0	0	0	0	1	0	0	0	455	1020	36	4	712	4	AKAP8L	19	15508576	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	23767	15508576	43620407	13422	17038											
RASAL3	64926	broad.mit.edu	37	19	15575099	15575099	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:15575099C>T	ENST00000343625.7	-	2	156	c.71G>A	c.(70-72)cGc>cAc	p.R24H		NM_022904.1	NP_075055.1	Q86YV0	RASL3_HUMAN	RAS protein activator like 3						negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|skin(1)	18						TGTGTGCCAGCGGTAGGAAGT	0.711													4	7					0	0	1	0	0	T	15575099	C	T	15575099	3	4	81	1	0	0	0	0	1	0	0	0	13117	768	27	1	3032	1	RASAL3	19	15575099	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	66523	15575099	43553884	13423	17039											
CYP4F8	11283	broad.mit.edu	37	19	15728991	15728991	+	RNA	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:15728991G>T	ENST00000441682.2	+	0	407							P98187	CP4F8_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 8						prostaglandin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1)	26						GGGCACAGGAGAACATTGGAG	0.532													34	50					3.03874e-20	3.96671e-20	1	1	0	T	15728991	G	T	15728991	1	4	81	0	1	0	0	0	0	0	0	0	4214	957	33	4		4	CYP4F8	19	15728991	RNA	SNP	G	TCGA-DU-6392-01A-11D-1705-08	153892	15728991	43399992	13424	17040											
CYP4F12	66002	broad.mit.edu	37	19	15791247	15791247	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:15791247G>A	ENST00000550308.1	+	5	823	c.443G>A	c.(442-444)cGt>cAt	p.R148H	CYP4F12_ENST00000324632.10_Missense_Mutation_p.R148H	NM_023944.3	NP_076433			cytochrome P450, family 4, subfamily F, polypeptide 12											NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)					AGCCGCCACCGTCGGATGCTG	0.547													5	14					0	0	1	0	0	A	15791247	G	A	15791247	3	1	81	1	0	0	0	0	1	0	0	0	4210	1145	40	1	457	1	CYP4F12	19	15791247	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	62256	15791247	43337736	13425	17041											
CYP4F11	57834	broad.mit.edu	37	19	16035646	16035646	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:16035646A>G	ENST00000402119.4	-	5	998	c.572T>C	c.(571-573)aTg>aCg	p.M191T	CYP4F11_ENST00000326742.8_Missense_Mutation_p.M191T|CYP4F11_ENST00000591841.1_Intron|CYP4F11_ENST00000248041.8_Missense_Mutation_p.M191T	NM_021187.3	NP_067010.3	Q9HBI6	CP4FB_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 11						inflammatory response|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3)	25						GTGTTCAAACATGTCCAGTCT	0.532													12	20					0	0	1	0	0	G	16035646	A	G	16035646	3	3	81	1	0	0	0	0	1	0	0	0	4209	217	8	3	1034	3	CYP4F11	19	16035646	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	244399	16035646	43093337	13426	17042											
TPM4	7171	broad.mit.edu	37	19	16192856	16192856	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:16192856G>A	ENST00000300933.4	+	2	526	c.266G>A	c.(265-267)aGa>aAa	p.R89K	TPM4_ENST00000538887.1_Splice_Site_p.R125K|TPM4_ENST00000344824.6_Splice_Site_p.R125K	NM_003290.2	NP_003281.1	P67936	TPM4_HUMAN	tropomyosin 4	89					cellular component movement|muscle filament sliding|response to oxidative stress	cytosol|muscle thin filament tropomyosin|stress fiber	actin binding|calcium ion binding|structural constituent of muscle		TPM4/ALK(12)	breast(1)|large_intestine(3)	4						GAGAGTGAGAGGTAAGGACGC	0.537			T	ALK	ALCL								13	6					0	0	1	0	0	A	16192856	G	A	16192856	5	1	81	1	0	0	0	0	0	0	1	0	16469	1014	35	2	520	2	TPM4	19	16192856	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	157210	16192856	42936127	13427	17043											
HSH2D	84941	broad.mit.edu	37	19	16268152	16268152	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:16268152C>T	ENST00000593154.2	+	8	1138	c.607C>T	c.(607-609)Ctc>Ttc	p.L203F	HSH2D_ENST00000397372.4_Missense_Mutation_p.L114F|HSH2D_ENST00000253680.6_Missense_Mutation_p.L203F|HSH2D_ENST00000588246.1_Missense_Mutation_p.L203F	NM_032855.2	NP_116244.1	Q96JZ2	HSH2D_HUMAN	hematopoietic SH2 domain containing	203						cytoplasm|nucleus				central_nervous_system(1)|kidney(1)|large_intestine(2)	4						CCGCCAGAAACTCTGGAGGAG	0.552													18	29					0	0	1	0	0	T	16268152	C	T	16268152	3	4	81	1	0	0	0	0	1	0	0	0	7443	565	20	2	625	2	HSH2D	19	16268152	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	75296	16268152	42860831	13428	17044											
KLF2	10365	broad.mit.edu	37	19	16437757	16437757	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:16437757G>A	ENST00000248071.5	+	3	1090	c.983G>A	c.(982-984)gGc>gAc	p.G328D	KLF2_ENST00000592003.1_Missense_Mutation_p.A56T	NM_016270.2	NP_057354.1	Q9Y5W3	KLF2_HUMAN	Kruppel-like factor 2	328					positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(3)|lung(1)|skin(1)	5						AAGCACACGGGCCACCGGCCA	0.652													11	13					0	0	1	0	0	A	16437757	G	A	16437757	3	1	81	1	0	0	0	0	1	0	0	0	8389	1203	42	2	993	2	KLF2	19	16437757	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	169605	16437757	42691226	13429	17045											
CALR3	125972	broad.mit.edu	37	19	16591453	16591453	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:16591453A>C	ENST00000269881.3	-	8	1045	c.983T>G	c.(982-984)tTt>tGt	p.F328C	CTD-3222D19.2_ENST00000409035.1_3'UTR	NM_145046.4	NP_659483.2	Q96L12	CALR3_HUMAN	calreticulin 3	328	C-domain.				protein folding	endoplasmic reticulum lumen	calcium ion binding|sugar binding|unfolded protein binding			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|prostate(1)|skin(1)	15						GGCCTTGCCAAAATTATCTGC	0.368													15	14					0	0	1	0	0	C	16591453	A	C	16591453	3	2	81	1	0	0	0	0	1	0	0	0	2611	14	1	5	179	5	CALR3	19	16591453	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	153696	16591453	42537530	13430	17046											
CALR3	125972	broad.mit.edu	37	19	16593275	16593275	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:16593275G>A	ENST00000269881.3	-	7	966	c.904C>T	c.(904-906)Ctg>Ttg	p.L302L	CTD-3222D19.2_ENST00000409035.1_3'UTR|CALR3_ENST00000602234.1_5'UTR	NM_145046.4	NP_659483.2	Q96L12	CALR3_HUMAN	calreticulin 3	302	C-domain.				protein folding	endoplasmic reticulum lumen	calcium ion binding|sugar binding|unfolded protein binding			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|prostate(1)|skin(1)	15						CAAAGCTCCAGGCCAATGGCA	0.398													24	29					0	0	1	0	0	A	16593275	G	A	16593275	2	1	81	1	0	0	0	0	0	0	0	1	2611	991	35	2		2	CALR3	19	16593275	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1822	16593275	42535708	13431	17047											
C19orf44	84167	broad.mit.edu	37	19	16612323	16612323	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:16612323C>T	ENST00000221671.3	+	2	876	c.720C>T	c.(718-720)agC>agT	p.S240S	CTD-3222D19.2_ENST00000409035.1_Intron|C19orf44_ENST00000594035.1_Silent_p.S240S	NM_032207.2	NP_115583.1	Q9H6X5	CS044_HUMAN	chromosome 19 open reading frame 44	240										endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	16						GCTTCAGCAGCGCTAACGTCA	0.318													17	49					0	0	1	0	0	T	16612323	C	T	16612323	2	4	81	1	0	0	0	0	0	0	0	1	1939	767	27	1		1	C19orf44	19	16612323	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	19048	16612323	42516660	13432	17048											
C19orf44	84167	broad.mit.edu	37	19	16614097	16614097	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:16614097G>T	ENST00000221671.3	+	3	1137	c.981G>T	c.(979-981)aaG>aaT	p.K327N	CTD-3222D19.2_ENST00000409035.1_Intron|C19orf44_ENST00000594035.1_Missense_Mutation_p.K327N	NM_032207.2	NP_115583.1	Q9H6X5	CS044_HUMAN	chromosome 19 open reading frame 44	327										endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	16						TGTCTTTAAAGATGGGGCATG	0.552													11	67					4.68919e-08	5.54405e-08	1	1	0	T	16614097	G	T	16614097	3	4	81	1	0	0	0	0	1	0	0	0	1939	933	33	4	987	4	C19orf44	19	16614097	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1774	16614097	42514886	13433	17049											
CHERP	10523	broad.mit.edu	37	19	16631278	16631278	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:16631278G>A	ENST00000546361.2	-	14	2393	c.2242C>T	c.(2242-2244)Cgt>Tgt	p.R748C	CTD-3222D19.2_ENST00000409035.1_Intron|CHERP_ENST00000198939.6_Missense_Mutation_p.R759C|CHERP_ENST00000544299.1_5'UTR|C19orf44_ENST00000221671.3_3'UTR	NM_006387.5	NP_006378.3	Q8IWX8	CHERP_HUMAN	calcium homeostasis endoplasmic reticulum protein	748	Arg-rich.				cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development|RNA processing	endoplasmic reticulum|perinuclear region of cytoplasm	RNA binding	p.R748C(1)		endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|stomach(1)|urinary_tract(3)	24						GAGGAAGAACGCCCTCGACTC	0.622													20	141					0	0	1	0	0	A	16631278	G	A	16631278	3	1	81	1	0	0	0	0	1	0	0	0	3358	1087	38	1	524	1	CHERP	19	16631278	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	17181	16631278	42497705	13434	17050											
SLC35E1	79939	broad.mit.edu	37	19	16664712	16664712	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:16664712G>A	ENST00000595753.1	-	6	1028	c.1011C>T	c.(1009-1011)taC>taT	p.Y337Y	CTD-3222D19.2_ENST00000409035.1_3'UTR	NM_024881.4	NP_079157.3	Q96K37	S35E1_HUMAN	solute carrier family 35, member E1	337					transport	integral to membrane				central_nervous_system(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(2)|ovary(1)	15						GGTTTGCATCGTACTTGGTCT	0.577													9	30					0	0	1	0	0	A	16664712	G	A	16664712	2	1	81	1	0	0	0	0	0	0	0	1	14639	1140	40	1		1	SLC35E1	19	16664712	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	33434	16664712	42464271	13435	17051											
MED26	9441	broad.mit.edu	37	19	16688338	16688338	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:16688338G>A	ENST00000263390.3	-	3	565	c.303C>T	c.(301-303)acC>acT	p.T101T	CTD-3222D19.2_ENST00000409035.1_Silent_p.T109T	NM_004831.3	NP_004822.2	O95402	MED26_HUMAN	mediator complex subunit 26	101					regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|RNA polymerase II transcription cofactor activity|transcription coactivator activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|skin(1)	8						TGGCAGAGCCGGTGGCCCCCG	0.706													7	17					0	0	1	0	0	A	16688338	G	A	16688338	2	1	81	1	0	0	0	0	0	0	0	1	9494	1103	39	1		1	MED26	19	16688338	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	23626	16688338	42440645	13436	17052											
TMEM38A	79041	broad.mit.edu	37	19	16791393	16791393	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:16791393G>T	ENST00000187762.2	+	3	557		c.e3+1			NM_024074.1	NP_076979.1	Q9H6F2	TM38A_HUMAN	transmembrane protein 38A							integral to membrane|nuclear membrane|sarcoplasmic reticulum membrane	potassium channel activity			central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)	15						TGGGTCAAAGGTAAATAGGAT	0.532													7	38					8.12818e-05	8.94031e-05	1	1	0	T	16791393	G	T	16791393	5	4	81	1	0	0	0	0	0	0	1	0	16219	1275	44	5	477	5	TMEM38A	19	16791393	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	103055	16791393	42337590	13437	17053											
TMEM38A	79041	broad.mit.edu	37	19	16797199	16797199	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:16797199T>G	ENST00000187762.2	+	5	746	c.655T>G	c.(655-657)Ttc>Gtc	p.F219V		NM_024074.1	NP_076979.1	Q9H6F2	TM38A_HUMAN	transmembrane protein 38A	219						integral to membrane|nuclear membrane|sarcoplasmic reticulum membrane	potassium channel activity			central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)	15						CTTCACCTTGTTCATGGTGTC	0.557													3	45					0	0	1	0	0	G	16797199	T	G	16797199	3	3	81	1	0	0	0	0	1	0	0	0	16219	1725	60	5	673	5	TMEM38A	19	16797199	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	5806	16797199	42331784	13438	17054											
SIN3B	23309	broad.mit.edu	37	19	16957837	16957837	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:16957837G>A	ENST00000379803.1	+	5	653	c.639G>A	c.(637-639)gtG>gtA	p.V213V	SIN3B_ENST00000596802.1_Silent_p.V213V|SIN3B_ENST00000248054.5_Silent_p.V213V	NM_015260.2	NP_056075.1	O75182	SIN3B_HUMAN	SIN3 transcription regulator family member B	213	PAH 2.				cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	protein binding			endometrium(4)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26						AAGAGGAGGTGTTCACCGAGG	0.577													26	33					0	0	1	0	0	A	16957837	G	A	16957837	2	1	81	1	0	0	0	0	0	0	0	1	14381	1364	48	2		2	SIN3B	19	16957837	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	160638	16957837	42171146	13439	17055											
SIN3B	23309	broad.mit.edu	37	19	16973180	16973180	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:16973180T>G	ENST00000379803.1	+	9	1090	c.1076T>G	c.(1075-1077)tTt>tGt	p.F359C	SIN3B_ENST00000248054.5_Missense_Mutation_p.F359C	NM_015260.2	NP_056075.1	O75182	SIN3B_HUMAN	SIN3 transcription regulator family member B	359	Interaction with NCOR1 (By similarity).|PAH 3.				cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	protein binding			endometrium(4)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26						CCAGAACTCTTTGCACAGTTC	0.493													4	45					0	0	1	0	0	G	16973180	T	G	16973180	3	3	81	1	0	0	0	0	1	0	0	0	14381	1841	64	5	1110	5	SIN3B	19	16973180	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	15343	16973180	42155803	13440	17056											
CPAMD8	27151	broad.mit.edu	37	19	17122306	17122306	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:17122306C>T	ENST00000443236.1	-	5	626	c.595G>A	c.(595-597)Gtc>Atc	p.V199I	CTD-2528A14.1_ENST00000595134.1_RNA|CPAMD8_ENST00000388925.4_Missense_Mutation_p.V152I	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	152						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						TTTGGAGAGACGGTGAAGATG	0.587													52	76					0	0	1	0	0	T	17122306	C	T	17122306	3	4	81	1	0	0	0	0	1	0	0	0	3818	536	19	1	5355	1	CPAMD8	19	17122306	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	149126	17122306	42006677	13441	17057											
MYO9B	4650	broad.mit.edu	37	19	17212988	17212988	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:17212988T>C	ENST00000595618.1	+	2	613	c.461T>C	c.(460-462)cTc>cCc	p.L154P	MYO9B_ENST00000397274.2_Missense_Mutation_p.L154P|MYO9B_ENST00000594824.1_Missense_Mutation_p.L154P	NM_001130065.1|NM_004145.3	NP_001123537.1|NP_004136.2	Q13459	MYO9B_HUMAN	myosin IXB	154	Myosin head-like.				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						CTGTGTAACCTCCCCGAGCTA	0.617													24	43					0	0	1	0	0	C	17212988	T	C	17212988	3	2	81	1	0	0	0	0	1	0	0	0	10133	1551	54	3	463	3	MYO9B	19	17212988	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	90682	17212988	41915995	13442	17058											
MYO9B	4650	broad.mit.edu	37	19	17298836	17298836	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:17298836C>T	ENST00000595618.1	+	19	2822	c.2670C>T	c.(2668-2670)agC>agT	p.S890S	MYO9B_ENST00000397274.2_Silent_p.S890S|MYO9B_ENST00000594824.1_Silent_p.S890S	NM_001130065.1|NM_004145.3	NP_001123537.1|NP_004136.2	Q13459	MYO9B_HUMAN	myosin IXB	890	Myosin head-like.				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						CAGGGTACAGCGCCAAGTACA	0.572													7	5					0	0	1	0	0	T	17298836	C	T	17298836	2	4	81	1	0	0	0	0	0	0	0	1	10133	767	27	1		1	MYO9B	19	17298836	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	85848	17298836	41830147	13443	17059											
MYO9B	4650	broad.mit.edu	37	19	17313002	17313002	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:17313002C>A	ENST00000595618.1	+	28	4878	c.4726C>A	c.(4726-4728)Ctg>Atg	p.L1576M	MYO9B_ENST00000397274.2_Missense_Mutation_p.L1576M|MYO9B_ENST00000594824.1_Missense_Mutation_p.L1576M	NM_001130065.1|NM_004145.3	NP_001123537.1|NP_004136.2	Q13459	MYO9B_HUMAN	myosin IXB	1576	Tail.				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						CGTCAGCAACCTGGCCACTGA	0.567													7	13					5.18039e-06	5.88187e-06	1	1	0	A	17313002	C	A	17313002	3	1	81	1	0	0	0	0	1	0	0	0	10133	680	24	4	4832	4	MYO9B	19	17313002	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	14166	17313002	41815981	13444	17060											
MYO9B	4650	broad.mit.edu	37	19	17322563	17322563	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:17322563C>T	ENST00000595618.1	+	39	6190	c.6038C>T	c.(6037-6039)gCc>gTc	p.A2013V	MYO9B_ENST00000397274.2_Missense_Mutation_p.A2013V|MYO9B_ENST00000594824.1_Missense_Mutation_p.A2013V	NM_001130065.1|NM_004145.3	NP_001123537.1|NP_004136.2	Q13459	MYO9B_HUMAN	myosin IXB	2013	Tail.				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						GAGGAGCGGGCCGGGCGGGGG	0.687													15	19					0	0	1	0	0	T	17322563	C	T	17322563	3	4	81	1	0	0	0	0	1	0	0	0	10133	739	26	2	6188	2	MYO9B	19	17322563	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	9561	17322563	41806420	13445	17061											
MYO9B	4650	broad.mit.edu	37	19	17322804	17322804	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:17322804G>A	ENST00000594824.1	+	40	6306	c.6159G>A	c.(6157-6159)acG>acA	p.T2053T	MYO9B_ENST00000397274.2_3'UTR|MYO9B_ENST00000595618.1_3'UTR			Q13459	MYO9B_HUMAN	myosin IXB	2053	Tail.				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						CCTTCGTAACGGTCAGAGTGA	0.736													5	9					0	0	1	0	0	A	17322804	G	A	17322804	2	1	81	1	0	0	0	0	0	0	0	1	10133	1103	39	1		1	MYO9B	19	17322804	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	241	17322804	41806179	13446	17062											
USHBP1	83878	broad.mit.edu	37	19	17370173	17370173	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:17370173C>T	ENST00000252597.3	-	7	1144	c.971G>A	c.(970-972)cGc>cAc	p.R324H	USHBP1_ENST00000431146.2_Missense_Mutation_p.R260H	NM_031941.3	NP_114147.2	Q8N6Y0	USBP1_HUMAN	Usher syndrome 1C binding protein 1	324							PDZ domain binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(10)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44						GCCTTCACAGCGGCCCTTGTA	0.562													23	27					0	0	1	0	0	T	17370173	C	T	17370173	3	4	81	1	0	0	0	0	1	0	0	0	17097	768	27	1	1168	1	USHBP1	19	17370173	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	47369	17370173	41758810	13447	17063											
USHBP1	83878	broad.mit.edu	37	19	17373578	17373578	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:17373578C>A	ENST00000252597.3	-	4	598	c.425G>T	c.(424-426)aGc>aTc	p.S142I	USHBP1_ENST00000431146.2_Missense_Mutation_p.S78I|USHBP1_ENST00000598570.1_5'UTR	NM_031941.3	NP_114147.2	Q8N6Y0	USBP1_HUMAN	Usher syndrome 1C binding protein 1	142							PDZ domain binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(10)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44						CCCAGAATGGCTGGGGGGCTG	0.677													5	68					0.0381472	0.0389402	1	1	0	A	17373578	C	A	17373578	3	1	81	1	0	0	0	0	1	0	0	0	17097	797	28	4	1726	4	USHBP1	19	17373578	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3405	17373578	41755405	13448	17064											
ANKLE1	126549	broad.mit.edu	37	19	17394492	17394493	+	Frame_Shift_Ins	INS	-	-	A	rs139428363		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:17394492_17394493insA	ENST00000394458.3	+	5	1195_1196	c.919_920insA	c.(919-921)ccafs	p.P307fs	ANKLE1_ENST00000404085.1_Frame_Shift_Ins_p.P329fs|ANKLE1_ENST00000594072.1_Frame_Shift_Ins_p.P296fs|ANKLE1_ENST00000598347.1_Frame_Shift_Ins_p.P307fs|ANKLE1_ENST00000433424.2_Frame_Shift_Ins_p.P361fs	NM_152363.4	NP_689576	Q8NAG6	ANKL1_HUMAN	ankyrin repeat and LEM domain containing 1	307						nuclear envelope				large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	7						TCATAGCCCCCCACGGACACCA	0.609													8	69	---	---	---	---						A	17394493	-	A	17394492	7	5	81	1	0	1	1	0	0	0	0	0	628	623	22	0	937	0	ANKLE1	19	17394492	Frame_Shift_Ins	INS	-	TCGA-DU-6392-01A-11D-1705-08	20914	17394492	41734491	13449	17065											
ABHD8	79575	broad.mit.edu	37	19	17411728	17411728	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:17411728T>C	ENST00000247706.3	-	2	937	c.698A>G	c.(697-699)gAc>gGc	p.D233G	MRPL34_ENST00000595444.1_Intron|MRPL34_ENST00000600434.1_Intron	NM_024527.4	NP_078803.4	Q96I13	ABHD8_HUMAN	abhydrolase domain containing 8	233							hydrolase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)|urinary_tract(1)	9						TGCTCGCATGTCCTCAGCCAG	0.622													31	59					0	0	1	0	0	C	17411728	T	C	17411728	3	2	81	1	0	0	0	0	1	0	0	0	87	1667	58	3	637	3	ABHD8	19	17411728	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	17236	17411728	41717255	13450	17066											
ANO8	57719	broad.mit.edu	37	19	17441161	17441161	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:17441161C>T	ENST00000159087.4	-	9	1304	c.1146G>A	c.(1144-1146)caG>caA	p.Q382Q		NM_020959.2	NP_066010.1	Q9HCE9	ANO8_HUMAN	anoctamin 8	382	Leu-rich.					chloride channel complex	chloride channel activity			autonomic_ganglia(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(3)	27						GGGGGGTCACCTGCAGCTGGA	0.642													8	6					0	0	1	0	0	T	17441161	C	T	17441161	5	4	81	1	0	0	0	0	0	0	1	0	697	695	24	2	2592	2	ANO8	19	17441161	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	29433	17441161	41687822	13451	17067											
SLC27A1	376497	broad.mit.edu	37	19	17597580	17597580	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:17597580G>A	ENST00000252595.7	+	2	473	c.376G>A	c.(376-378)Gcg>Acg	p.A126T	SLC27A1_ENST00000442725.1_Missense_Mutation_p.A126T|SLC27A1_ENST00000598424.1_5'UTR	NM_198580.1	NP_940982.1	Q6PCB7	S27A1_HUMAN	solute carrier family 27 (fatty acid transporter), member 1	126					cardiolipin biosynthetic process|fatty acid metabolic process|long-chain fatty acid transport|negative regulation of phospholipid biosynthetic process|phosphatidic acid biosynthetic process|phosphatidylcholine biosynthetic process|phosphatidylethanolamine biosynthetic process|phosphatidylinositol biosynthetic process|phosphatidylserine biosynthetic process|transmembrane transport	endomembrane system|integral to membrane	fatty acid transporter activity|nucleotide binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						GCTGGGCTTCGCGCCGGGCGA	0.706													4	6					0	0	1	0	0	A	17597580	G	A	17597580	3	1	81	1	0	0	0	0	1	0	0	0	14580	1087	38	1	382	1	SLC27A1	19	17597580	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	156419	17597580	41531403	13452	17068											
SLC27A1	376497	broad.mit.edu	37	19	17597672	17597672	+	Translation_Start_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:17597672G>A	ENST00000598424.1	+	0	760				SLC27A1_ENST00000442725.1_Silent_p.A156A|SLC27A1_ENST00000252595.7_Silent_p.A156A			Q6PCB7	S27A1_HUMAN	solute carrier family 27 (fatty acid transporter), member 1						cardiolipin biosynthetic process|fatty acid metabolic process|long-chain fatty acid transport|negative regulation of phospholipid biosynthetic process|phosphatidic acid biosynthetic process|phosphatidylcholine biosynthetic process|phosphatidylethanolamine biosynthetic process|phosphatidylinositol biosynthetic process|phosphatidylserine biosynthetic process|transmembrane transport	endomembrane system|integral to membrane	fatty acid transporter activity|nucleotide binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						TGGAGGCCGCGCTGCTCAACG	0.706													5	8					0	0	1	0	0	A	17597672	G	A	17597672	1	1	81	1	0	0	0	0	0	0	0	0	14580	1074	38	1		1	SLC27A1	19	17597672	Translation_Start_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	92	17597672	41531311	13453	17069											
SLC27A1	376497	broad.mit.edu	37	19	17615406	17615406	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:17615406C>T	ENST00000252595.7	+	12	2023	c.1926C>T	c.(1924-1926)ggC>ggT	p.G642G	SLC27A1_ENST00000442725.1_Silent_p.G642G|SLC27A1_ENST00000598424.1_Silent_p.G463G|SLC27A1_ENST00000598848.1_3'UTR|CTD-3131K8.2_ENST00000596643.1_lincRNA	NM_198580.1	NP_940982.1	Q6PCB7	S27A1_HUMAN	solute carrier family 27 (fatty acid transporter), member 1	642					cardiolipin biosynthetic process|fatty acid metabolic process|long-chain fatty acid transport|negative regulation of phospholipid biosynthetic process|phosphatidic acid biosynthetic process|phosphatidylcholine biosynthetic process|phosphatidylethanolamine biosynthetic process|phosphatidylinositol biosynthetic process|phosphatidylserine biosynthetic process|transmembrane transport	endomembrane system|integral to membrane	fatty acid transporter activity|nucleotide binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						TCTGCTCGGGCGCCTTCGCCC	0.627													10	20					0	0	1	0	0	T	17615406	C	T	17615406	2	4	81	1	0	0	0	0	0	0	0	1	14580	755	27	1		1	SLC27A1	19	17615406	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	17734	17615406	41513577	13454	17070	84	2									
SLC27A1	376497	broad.mit.edu	37	19	17615413	17615413	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:17615413G>A	ENST00000252595.7	+	12	2030	c.1933G>A	c.(1933-1935)Gcc>Acc	p.A645T	SLC27A1_ENST00000442725.1_Missense_Mutation_p.A645T|SLC27A1_ENST00000598424.1_Missense_Mutation_p.A466T|CTD-3131K8.2_ENST00000596643.1_lincRNA	NM_198580.1	NP_940982.1	Q6PCB7	S27A1_HUMAN	solute carrier family 27 (fatty acid transporter), member 1	645					cardiolipin biosynthetic process|fatty acid metabolic process|long-chain fatty acid transport|negative regulation of phospholipid biosynthetic process|phosphatidic acid biosynthetic process|phosphatidylcholine biosynthetic process|phosphatidylethanolamine biosynthetic process|phosphatidylinositol biosynthetic process|phosphatidylserine biosynthetic process|transmembrane transport	endomembrane system|integral to membrane	fatty acid transporter activity|nucleotide binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						GGGCGCCTTCGCCCTCTGAAG	0.622													10	15					0	0	1	0	0	A	17615413	G	A	17615413	3	1	81	1	0	0	0	0	1	0	0	0	14580	1087	38	1	1979	1	SLC27A1	19	17615413	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	7	17615413	41513570	13455	17071	84	2									
UNC13A	23025	broad.mit.edu	37	19	17735657	17735657	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:17735657G>A	ENST00000428389.2	-	36	4441	c.4442C>T	c.(4441-4443)cCg>cTg	p.P1481L	UNC13A_ENST00000550896.1_Missense_Mutation_p.P1391L|UNC13A_ENST00000252773.7_Missense_Mutation_p.P1393L|UNC13A_ENST00000552293.1_Missense_Mutation_p.P1393L|UNC13A_ENST00000551649.1_Missense_Mutation_p.P1393L|UNC13A_ENST00000519716.2_Missense_Mutation_p.P1393L			Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	1393	MHD2.				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						AGTGAGGGGCGGCAGGACGAT	0.577													6	12					0	0	1	0	0	A	17735657	G	A	17735657	3	1	81	1	0	0	0	0	1	0	0	0	17044	1116	39	1	969	1	UNC13A	19	17735657	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	120244	17735657	41393326	13456	17072											
UNC13A	23025	broad.mit.edu	37	19	17753751	17753751	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:17753751G>A	ENST00000428389.2	-	21	2638	c.2639C>T	c.(2638-2640)tCt>tTt	p.S880F	UNC13A_ENST00000550896.1_Missense_Mutation_p.S790F|UNC13A_ENST00000252773.7_Missense_Mutation_p.S792F|UNC13A_ENST00000552293.1_Missense_Mutation_p.S792F|UNC13A_ENST00000551649.1_Missense_Mutation_p.S792F|UNC13A_ENST00000519716.2_Missense_Mutation_p.S792F			Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	792					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						CGACACGGCAGATTTGTCAGT	0.507													3	9					0	0	1	0	0	A	17753751	G	A	17753751	3	1	81	1	0	0	0	0	1	0	0	0	17044	942	33	2	2832	2	UNC13A	19	17753751	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	18094	17753751	41375232	13457	17073											
UNC13A	23025	broad.mit.edu	37	19	17759323	17759323	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:17759323G>A	ENST00000428389.2	-	17	1996	c.1997C>T	c.(1996-1998)gCg>gTg	p.A666V	UNC13A_ENST00000550896.1_Missense_Mutation_p.A576V|UNC13A_ENST00000252773.7_Missense_Mutation_p.A578V|UNC13A_ENST00000552293.1_Missense_Mutation_p.A578V|UNC13A_ENST00000551649.1_Missense_Mutation_p.A578V|UNC13A_ENST00000519716.2_Missense_Mutation_p.A578V			Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	578	C2 2.				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						GCCCTGCCTCGCGATGCCCCA	0.652													10	15					0	0	1	0	0	A	17759323	G	A	17759323	3	1	81	1	0	0	0	0	1	0	0	0	17044	1087	38	1	3490	1	UNC13A	19	17759323	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	5572	17759323	41369660	13458	17074											
MAP1S	55201	broad.mit.edu	37	19	17838652	17838652	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:17838652G>A	ENST00000324096.4	+	5	2610	c.2459G>A	c.(2458-2460)cGc>cAc	p.R820H	MAP1S_ENST00000597681.1_3'UTR|MAP1S_ENST00000544059.2_Missense_Mutation_p.R794H|CTD-3149D2.4_ENST00000595363.1_RNA	NM_018174.4	NP_060644.4	Q66K74	MAP1S_HUMAN	microtubule-associated protein 1S	820	Necessary for association with microtubules.|Necessary for interaction with RASSF1 isoform A and isoform C.|Pro-rich.				apoptosis|brain development|microtubule bundle formation|mitochondrion transport along microtubule|neuron projection morphogenesis	cytosol|dendrite|microtubule|neuronal cell body|nucleus|perinuclear region of cytoplasm|spindle|synapse	actin filament binding|beta-tubulin binding|DNA binding|microtubule binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	25						GGAGTCCCTCGCCACGACCCT	0.662													6	7					0	0	1	0	0	A	17838652	G	A	17838652	3	1	81	1	0	0	0	0	1	0	0	0	9284	1087	38	1	2477	1	MAP1S	19	17838652	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	79329	17838652	41290331	13459	17075											
FCHO1	23149	broad.mit.edu	37	19	17889000	17889000	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:17889000G>A	ENST00000594202.1	+	19	1593	c.1314G>A	c.(1312-1314)ccG>ccA	p.P438P	FCHO1_ENST00000252771.7_Silent_p.P438P|FCHO1_ENST00000595033.1_Silent_p.P388P|FCHO1_ENST00000596536.1_Silent_p.P438P|FCHO1_ENST00000600676.1_Silent_p.P438P|FCHO1_ENST00000539407.1_Silent_p.P438P|FCHO1_ENST00000596951.1_Silent_p.P438P|FCHO1_ENST00000389133.4_Silent_p.P438P|FCHO1_ENST00000597512.1_Silent_p.P445P	NM_001161357.1	NP_001154829.1	O14526	FCHO1_HUMAN	FCH domain only 1	438										NS(2)|breast(1)|large_intestine(6)|liver(1)|lung(12)	22						TCTTTGGGCCGCCCCTGGAGT	0.572													22	30					0	0	1	0	0	A	17889000	G	A	17889000	2	1	81	1	0	0	0	0	0	0	0	1	5820	1074	38	1		1	FCHO1	19	17889000	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	50348	17889000	41239983	13460	17076											
RPL18A	6142	broad.mit.edu	37	19	17972951	17972951	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:17972951C>T	ENST00000600147.1	+	3	283	c.247C>T	c.(247-249)Cgc>Tgc	p.R83C	RPL18A_ENST00000599870.1_Missense_Mutation_p.R54C|RPL18A_ENST00000222247.5_Missense_Mutation_p.R83C|RPL18A_ENST00000599898.1_Missense_Mutation_p.R44C			Q02543	RL18A_HUMAN	ribosomal protein L18a	83				R -> S (in Ref. 2; CAA56788).	endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	protein binding|RNA binding|structural constituent of ribosome			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|upper_aerodigestive_tract(1)	5						GATCTGGCTGCGCTATGACTC	0.627													13	35					0	0	1	0	0	T	17972951	C	T	17972951	3	4	81	1	0	0	0	0	1	0	0	0	13617	768	27	1	257	1	RPL18A	19	17972951	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	83951	17972951	41156032	13461	17077											
KCNN1	3780	broad.mit.edu	37	19	18084939	18084939	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:18084939G>T	ENST00000222249.9	+	3	561	c.242G>T	c.(241-243)aGa>aTa	p.R81I		NM_002248.3	NP_002239.2	Q92952	KCNN1_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 1						synaptic transmission	voltage-gated potassium channel complex	calmodulin binding|small conductance calcium-activated potassium channel activity			endometrium(1)|kidney(1)|lung(5)|urinary_tract(1)	8						GGCAGGCAGAGAGCCTCGGGG	0.677													13	22					1.5842e-08	1.88841e-08	1	1	0	T	18084939	G	T	18084939	3	4	81	1	0	0	0	0	1	0	0	0	8122	942	33	4	244	4	KCNN1	19	18084939	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	111988	18084939	41044044	13462	17078											
KCNN1	3780	broad.mit.edu	37	19	18092792	18092792	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:18092792G>A	ENST00000222249.9	+	5	1092	c.773G>A	c.(772-774)cGc>cAc	p.R258H		NM_002248.3	NP_002239.2	Q92952	KCNN1_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 1						synaptic transmission	voltage-gated potassium channel complex	calmodulin binding|small conductance calcium-activated potassium channel activity			endometrium(1)|kidney(1)|lung(5)|urinary_tract(1)	8						GCCTCGAGCCGCAGCATCGGG	0.602													5	5					0	0	1	0	0	A	18092792	G	A	18092792	3	1	81	1	0	0	0	0	1	0	0	0	8122	1087	38	1	783	1	KCNN1	19	18092792	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	7853	18092792	41036191	13463	17079											
IL12RB1	3594	broad.mit.edu	37	19	18180427	18180427	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:18180427G>T	ENST00000600835.2	-	11	1416	c.1118C>A	c.(1117-1119)cCt>cAt	p.P373H	IL12RB1_ENST00000593993.2_Missense_Mutation_p.P373H			P42701	I12R1_HUMAN	interleukin 12 receptor, beta 1		Fibronectin type-III 4.				cellular response to interferon-gamma|interleukin-12-mediated signaling pathway|positive regulation of activated T cell proliferation|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response	interleukin-12 receptor complex|interleukin-23 receptor complex	cytokine receptor activity			endometrium(1)|kidney(1)|lung(3)|pancreas(1)|skin(2)	8						CTGGCCCACAGGCTGCCATTC	0.622													5	71					2.0095e-06	2.30238e-06	1	1	0	T	18180427	G	T	18180427	3	4	81	1	0	0	0	0	1	0	0	0	7670	1000	35	4	902	4	IL12RB1	19	18180427	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	87635	18180427	40948556	13464	17080											
PIK3R2	5296	broad.mit.edu	37	19	18273240	18273240	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:18273240C>T	ENST00000593731.1	+	9	1593	c.1033C>T	c.(1033-1035)Cgg>Tgg	p.R345W	PIK3R2_ENST00000222254.8_Missense_Mutation_p.R345W			O00459	P85B_HUMAN	phosphoinositide-3-kinase, regulatory subunit 2 (beta)	345	SH2 1.				fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|negative regulation of anti-apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|T cell costimulation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	GTPase activator activity|phosphatidylinositol 3-kinase regulator activity|protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(3)|pancreas(1)|stomach(1)	24						CGAGAAACTCCGGGACACTCC	0.612													8	21					0	0	1	0	0	T	18273240	C	T	18273240	3	4	81	1	0	0	0	0	1	0	0	0	11967	643	23	1	1063	1	PIK3R2	19	18273240	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	92813	18273240	40855743	13465	17081											
IFI30	10437	broad.mit.edu	37	19	18286467	18286467	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:18286467G>A	ENST00000407280.3	+	4	618	c.443G>A	c.(442-444)tGc>tAc	p.C148Y	PIK3R2_ENST00000593731.1_3'UTR	NM_006332.3	NP_006323.2	P13284	GILT_HUMAN	interferon, gamma-inducible protein 30					C -> WHG (in Ref. 1; AAA36105).	antigen processing and presentation of exogenous peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway	cell junction|extracellular region|lysosome	oxidoreductase activity, acting on a sulfur group of donors			endometrium(1)|kidney(2)|large_intestine(1)|stomach(1)	5						ACCATTGTCTGCATGGAAGAG	0.572													4	4					0	0	1	0	0	A	18286467	G	A	18286467	3	1	81	1	0	0	0	0	1	0	0	0	7559	1319	46	2	457	2	IFI30	19	18286467	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	13227	18286467	40842516	13466	17082											
RAB3A	5864	broad.mit.edu	37	19	18313466	18313466	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:18313466C>T	ENST00000222256.4	-	2	263	c.85G>A	c.(85-87)Ggc>Agc	p.G29S	RAB3A_ENST00000464076.3_Intron	NM_002866.4	NP_002857.1	P20336	RAB3A_HUMAN	RAB3A, member RAS oncogene family	29					glutamate secretion|protein transport|small GTPase mediated signal transduction	clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|plasma membrane|synaptic vesicle	GTP binding|GTPase activity			NS(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	8						CTGCTGTTGCCGATGATGAGA	0.567											OREG0025360	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	67	103					0	0	1	0	0	T	18313466	C	T	18313466	3	4	81	1	0	0	0	0	1	0	0	0	12983	652	23	1	593	1	RAB3A	19	18313466	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	26999	18313466	40815517	13467	17083											
PDE4C	5143	broad.mit.edu	37	19	18324238	18324238	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:18324238C>T	ENST00000355502.3	-	17	2419	c.1548G>A	c.(1546-1548)gaG>gaA	p.E516E	PDE4C_ENST00000597297.1_Silent_p.E286E|PDE4C_ENST00000594617.3_Silent_p.E516E|PDE4C_ENST00000539010.1_Silent_p.E285E|PDE4C_ENST00000598111.2_Silent_p.E231E|PDE4C_ENST00000594465.3_Silent_p.E516E|PDE4C_ENST00000447275.3_Silent_p.E410E|PDE4C_ENST00000262805.12_Silent_p.E484E|AC068499.10_ENST00000594805.3_RNA			Q08493	PDE4C_HUMAN	phosphodiesterase 4C, cAMP-specific	516					signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33					Dyphylline(DB00651)	CCTTCTTGGTCTCCACCATGG	0.572													4	15					0	0	1	0	0	T	18324238	C	T	18324238	2	4	81	1	0	0	0	0	0	0	0	1	11688	912	32	2		2	PDE4C	19	18324238	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	10772	18324238	40804745	13468	17084											
PDE4C	5143	broad.mit.edu	37	19	18329299	18329299	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:18329299G>T	ENST00000355502.3	-	14	1946	c.1075C>A	c.(1075-1077)Ctg>Atg	p.L359M	PDE4C_ENST00000597297.1_Missense_Mutation_p.L129M|PDE4C_ENST00000594617.3_Missense_Mutation_p.L359M|PDE4C_ENST00000539010.1_Missense_Mutation_p.L128M|PDE4C_ENST00000598111.2_Intron|PDE4C_ENST00000594465.3_Missense_Mutation_p.L359M|PDE4C_ENST00000447275.3_Missense_Mutation_p.L253M|PDE4C_ENST00000262805.12_Missense_Mutation_p.L327M|AC068499.10_ENST00000594805.3_RNA			Q08493	PDE4C_HUMAN	phosphodiesterase 4C, cAMP-specific	359					signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33					Dyphylline(DB00651)	GTCTTCAGCAGGTCCCGCTCC	0.582													9	87					7.48243e-07	8.64403e-07	1	1	0	T	18329299	G	T	18329299	3	4	81	1	0	0	0	0	1	0	0	0	11688	991	35	4	1087	4	PDE4C	19	18329299	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	5061	18329299	40799684	13469	17085											
PDE4C	5143	broad.mit.edu	37	19	18331255	18331255	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:18331255C>T	ENST00000355502.3	-	10	1537	c.666G>A	c.(664-666)acG>acA	p.T222T	PDE4C_ENST00000597297.1_Intron|PDE4C_ENST00000594617.3_Silent_p.T222T|PDE4C_ENST00000539010.1_5'UTR|PDE4C_ENST00000598111.2_Intron|PDE4C_ENST00000594465.3_Silent_p.T222T|PDE4C_ENST00000447275.3_Silent_p.T116T|PDE4C_ENST00000262805.12_Silent_p.T190T|AC068499.10_ENST00000594805.3_RNA			Q08493	PDE4C_HUMAN	phosphodiesterase 4C, cAMP-specific	222					signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33					Dyphylline(DB00651)	GGGTCTGCAGCGTCTCCAACT	0.662													8	30					0	0	1	0	0	T	18331255	C	T	18331255	2	4	81	1	0	0	0	0	0	0	0	1	11688	755	27	1		1	PDE4C	19	18331255	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1956	18331255	40797728	13470	17086											
KIAA1683	80726	broad.mit.edu	37	19	18376213	18376213	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:18376213G>T	ENST00000392413.4	-	3	2352	c.2137C>A	c.(2137-2139)Ctg>Atg	p.L713M	KIAA1683_ENST00000600359.3_Missense_Mutation_p.L667M|KIAA1683_ENST00000600328.3_Missense_Mutation_p.L713M	NM_001145304.1	NP_001138776.1	Q9H0B3	K1683_HUMAN	KIAA1683							mitochondrion				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						ATCTTGCTCAGACAGGTGTCC	0.627													22	31					1.55795e-14	1.97772e-14	1	1	0	T	18376213	G	T	18376213	3	4	81	1	0	0	0	0	1	0	0	0	8293	933	33	4	1974	4	KIAA1683	19	18376213	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	44958	18376213	40752770	13471	17087											
KIAA1683	80726	broad.mit.edu	37	19	18376492	18376492	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:18376492A>C	ENST00000392413.4	-	3	2073	c.1858T>G	c.(1858-1860)Ttt>Gtt	p.F620V	KIAA1683_ENST00000600359.3_Missense_Mutation_p.F574V|KIAA1683_ENST00000600328.3_Missense_Mutation_p.F620V	NM_001145304.1	NP_001138776.1	Q9H0B3	K1683_HUMAN	KIAA1683							mitochondrion				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						CTGGTCTTAAATGCCATGTCT	0.542													4	64					0	0	1	0	0	C	18376492	A	C	18376492	3	2	81	1	0	0	0	0	1	0	0	0	8293	101	4	4	2253	4	KIAA1683	19	18376492	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	279	18376492	40752491	13472	17088											
KIAA1683	80726	broad.mit.edu	37	19	18377077	18377077	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:18377077C>T	ENST00000392413.4	-	3	1488	c.1273G>A	c.(1273-1275)Gca>Aca	p.A425T	KIAA1683_ENST00000600359.3_Missense_Mutation_p.A379T|KIAA1683_ENST00000600328.3_Missense_Mutation_p.A425T	NM_001145304.1	NP_001138776.1	Q9H0B3	K1683_HUMAN	KIAA1683							mitochondrion				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						CGGTTCTTTGCCGTGATGGTC	0.607													32	47					0	0	1	0	0	T	18377077	C	T	18377077	3	4	81	1	0	0	0	0	1	0	0	0	8293	739	26	2	2838	2	KIAA1683	19	18377077	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	585	18377077	40751906	13473	17089											
KIAA1683	80726	broad.mit.edu	37	19	18378152	18378152	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:18378152C>T	ENST00000392413.4	-	3	413	c.198G>A	c.(196-198)ccG>ccA	p.P66P	KIAA1683_ENST00000600359.3_Silent_p.P20P|KIAA1683_ENST00000600328.3_Silent_p.P66P	NM_001145304.1	NP_001138776.1	Q9H0B3	K1683_HUMAN	KIAA1683							mitochondrion				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						CAGGCTGTTGCGGAAGATGCT	0.642													34	55					0	0	1	0	0	T	18378152	C	T	18378152	2	4	81	1	0	0	0	0	0	0	0	1	8293	755	27	1		1	KIAA1683	19	18378152	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1075	18378152	40750831	13474	17090											
LRRC25	126364	broad.mit.edu	37	19	18502922	18502922	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:18502922C>A	ENST00000339007.3	-	2	1446	c.793G>T	c.(793-795)Gag>Tag	p.E265*	LRRC25_ENST00000595840.1_Nonsense_Mutation_p.E265*	NM_145256.2	NP_660299.2	Q8N386	LRC25_HUMAN	leucine rich repeat containing 25	265						integral to membrane				endometrium(1)|large_intestine(3)|lung(3)|skin(1)	8						TCATTGTCCTCTGAAGGGTGA	0.562													34	54					2.6416e-12	3.29995e-12	1	1	0	A	18502922	C	A	18502922	4	1	81	1	0	0	0	0	0	1	0	0	9025	922	32	4	128	4	LRRC25	19	18502922	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	124770	18502922	40626061	13475	17091											
ISYNA1	51477	broad.mit.edu	37	19	18546085	18546085	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:18546085T>G	ENST00000338128.8	-	10	1680	c.1463A>C	c.(1462-1464)aAc>aCc	p.N488T	ISYNA1_ENST00000545187.1_Missense_Mutation_p.N338T|ISYNA1_ENST00000457269.4_Missense_Mutation_p.N434T|ISYNA1_ENST00000578963.1_Missense_Mutation_p.N360T|ISYNA1_ENST00000317018.6_Missense_Mutation_p.N286T	NM_001170938.1|NM_016368.4	NP_001164409.1|NP_057452.1	Q9NPH2	INO1_HUMAN	inositol-3-phosphate synthase 1						inositol biosynthetic process|phospholipid biosynthetic process	cytoplasm	binding|inositol-3-phosphate synthase activity			breast(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	12						CCTGAGGATGTTCTCGATGCA	0.667													6	52					0	0	1	0	0	G	18546085	T	G	18546085	3	3	81	1	0	0	0	0	1	0	0	0	7911	1725	60	5	221	5	ISYNA1	19	18546085	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	43163	18546085	40582898	13476	17092											
ELL	8178	broad.mit.edu	37	19	18555662	18555662	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:18555662C>A	ENST00000262809.4	-	12	1837	c.1766G>T	c.(1765-1767)aGc>aTc	p.S589I	ELL_ENST00000596124.3_Missense_Mutation_p.S456I	NM_006532.3	NP_006523.1	P55199	ELL_HUMAN	elongation factor RNA polymerase II	589					positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	Cajal body|nuclear speck|transcription elongation factor complex	protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(5)|prostate(1)	19				GBM - Glioblastoma multiforme(1328;7.81e-07)		CTTCTCCTGGCTGTAGTTGGT	0.632			T	MLL	AL								5	42					0.014758	0.0152304	1	1	0	A	18555662	C	A	18555662	3	1	81	1	0	0	0	0	1	0	0	0	5090	797	28	4	103	4	ELL	19	18555662	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	9577	18555662	40573321	13477	17093											
ELL	8178	broad.mit.edu	37	19	18572498	18572498	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:18572498G>T	ENST00000262809.4	-	5	705	c.634C>A	c.(634-636)Ctg>Atg	p.L212M	ELL_ENST00000596124.3_Missense_Mutation_p.L79M	NM_006532.3	NP_006523.1	P55199	ELL_HUMAN	elongation factor RNA polymerase II	212					positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	Cajal body|nuclear speck|transcription elongation factor complex	protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(5)|prostate(1)	19				GBM - Glioblastoma multiforme(1328;7.81e-07)		AGGAGGTGCAGCACTCGGTCA	0.667			T	MLL	AL						OREG0025366	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	19	26					7.45023e-12	9.27121e-12	1	1	0	T	18572498	G	T	18572498	3	4	81	1	0	0	0	0	1	0	0	0	5090	962	34	4	1263	4	ELL	19	18572498	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	16836	18572498	40556485	13478	17094											
CRLF1	9244	broad.mit.edu	37	19	18710376	18710376	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:18710376G>A	ENST00000392386.3	-	2	589	c.396C>T	c.(394-396)ggC>ggT	p.G132G		NM_004750.4	NP_004741.1	O75462	CRLF1_HUMAN	cytokine receptor-like factor 1	132					negative regulation of neuron apoptosis|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of Stat3 protein	extracellular space	cytokine binding|protein heterodimerization activity|receptor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	9						CCAACTTACGGCCAACATAGA	0.647													22	24					0	0	1	0	0	A	18710376	G	A	18710376	5	1	81	1	0	0	0	0	0	0	1	0	3909	1217	42	2	904	2	CRLF1	19	18710376	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	137878	18710376	40418607	13479	17095											
UPF1	5976	broad.mit.edu	37	19	18965817	18965817	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:18965817G>A	ENST00000262803.5	+	10	1667	c.1395G>A	c.(1393-1395)gcG>gcA	p.A465A	UPF1_ENST00000599848.1_Silent_p.A476A	NM_002911.3	NP_002902.2	Q92900	RENT1_HUMAN	UPF1 regulator of nonsense transcripts homolog (yeast)	476					cell cycle|DNA repair|DNA replication|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination	chromatin|cytoplasmic mRNA processing body|exon-exon junction complex	ATP binding|ATP-dependent RNA helicase activity|chromatin binding|DNA binding|protein binding|RNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						GCTTCACGGCGCAGGGCCTCC	0.672													17	40					0	0	1	0	0	A	18965817	G	A	18965817	2	1	81	1	0	0	0	0	0	0	0	1	17063	1074	38	1		1	UPF1	19	18965817	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	255441	18965817	40163166	13480	17096											
UPF1	5976	broad.mit.edu	37	19	18966764	18966764	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:18966764C>T	ENST00000262803.5	+	12	1847	c.1575C>T	c.(1573-1575)atC>atT	p.I525I	UPF1_ENST00000599848.1_Silent_p.I536I	NM_002911.3	NP_002902.2	Q92900	RENT1_HUMAN	UPF1 regulator of nonsense transcripts homolog (yeast)	536					cell cycle|DNA repair|DNA replication|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination	chromatin|cytoplasmic mRNA processing body|exon-exon junction complex	ATP binding|ATP-dependent RNA helicase activity|chromatin binding|DNA binding|protein binding|RNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						CGAGCAACATCGCCGTGGACC	0.602													9	14					0	0	1	0	0	T	18966764	C	T	18966764	2	4	81	1	0	0	0	0	0	0	0	1	17063	874	31	1		1	UPF1	19	18966764	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	947	18966764	40162219	13481	17097											
HOMER3	9454	broad.mit.edu	37	19	19049214	19049214	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:19049214C>T	ENST00000539827.1	-	3	903	c.251G>A	c.(250-252)cGc>cAc	p.R84H	HOMER3_ENST00000355887.6_Missense_Mutation_p.R84H|HOMER3_ENST00000221222.11_Missense_Mutation_p.R84H|HOMER3_ENST00000433218.2_Missense_Mutation_p.R84H|HOMER3_ENST00000392351.3_Missense_Mutation_p.R84H|HOMER3_ENST00000594439.1_Missense_Mutation_p.R84H|HOMER3_ENST00000542541.2_Missense_Mutation_p.R84H|HOMER3_ENST00000594794.1_Intron			Q9NSC5	HOME3_HUMAN	homer homolog 3 (Drosophila)	84	WH1.				metabotropic glutamate receptor signaling pathway|protein targeting	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	protein binding			endometrium(3)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	10			Epithelial(12;0.0107)			TGTGTTGGCGCGACTGTCGGC	0.592													21	40					0	0	1	0	0	T	19049214	C	T	19049214	3	4	81	1	0	0	0	0	1	0	0	0	7321	768	27	1	862	1	HOMER3	19	19049214	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	82450	19049214	40079769	13482	17098											
TMEM161A	54929	broad.mit.edu	37	19	19243998	19243998	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:19243998C>T	ENST00000450333.2	-	3	166	c.129G>A	c.(127-129)ccG>ccA	p.P43P	TMEM161A_ENST00000592147.1_5'UTR|TMEM161A_ENST00000162044.9_Silent_p.P43P|TMEM161A_ENST00000587583.2_Silent_p.P43P	NM_001256766.1	NP_001243695.1	Q9NX61	T161A_HUMAN	transmembrane protein 161A	43					cellular response to oxidative stress|cellular response to UV|negative regulation of apoptosis|positive regulation of DNA repair|response to retinoic acid	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	15			OV - Ovarian serous cystadenocarcinoma(5;1.19e-05)|Epithelial(12;0.0011)			CCTCCTCAGACGGGTGCTTGT	0.647													10	28					0	0	1	0	0	T	19243998	C	T	19243998	2	4	81	1	0	0	0	0	0	0	0	1	16136	523	19	1		1	TMEM161A	19	19243998	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	194784	19243998	39884985	13483	17099											
MEF2B	100271849	broad.mit.edu	37	19	19257608	19257608	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:19257608C>A	ENST00000602424.2	-	8	1344	c.618G>T	c.(616-618)ggG>ggT	p.G206G	MEF2B_ENST00000410050.1_Silent_p.G206G|MEF2BNB-MEF2B_ENST00000444486.3_Silent_p.G206G|MEF2B_ENST00000409447.2_Intron|MEF2BNB-MEF2B_ENST00000514819.3_Silent_p.G223G|MEF2B_ENST00000424583.2_Silent_p.G206G|MEF2B_ENST00000409224.1_Silent_p.G209G|MEF2B_ENST00000162023.5_Silent_p.G206G	NM_005919.3	NP_005910.1			myocyte enhancer factor 2B											breast(1)|haematopoietic_and_lymphoid_tissue(21)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(5;0.00011)|Epithelial(12;0.00412)			CTGACCTCCGCCCTTCCGTCG	0.662													10	20					9.70103e-10	1.17698e-09	1	1	0	A	19257608	C	A	19257608	2	1	81	1	0	0	0	0	0	0	0	1	9506	726	26	5		5	MEF2B	19	19257608	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	13610	19257608	39871375	13484	17100											
MEF2B	100271849	broad.mit.edu	37	19	19258575	19258575	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:19258575G>A	ENST00000602424.2	-	6	1051	c.325C>T	c.(325-327)Cca>Tca	p.P109S	MEF2B_ENST00000410050.1_Missense_Mutation_p.P109S|MEF2BNB-MEF2B_ENST00000444486.3_Missense_Mutation_p.P109S|MEF2B_ENST00000409447.2_Missense_Mutation_p.P109S|MEF2BNB-MEF2B_ENST00000514819.3_Missense_Mutation_p.P126S|MEF2B_ENST00000424583.2_Missense_Mutation_p.P109S|MEF2B_ENST00000409224.1_Missense_Mutation_p.P112S|MEF2BNB-MEF2B_ENST00000602276.1_5'UTR|MEF2B_ENST00000162023.5_Missense_Mutation_p.P109S	NM_005919.3	NP_005910.1			myocyte enhancer factor 2B											breast(1)|haematopoietic_and_lymphoid_tissue(21)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(5;0.00011)|Epithelial(12;0.00412)			TTCTCTCCTGGCTCCTCAGGC	0.627													20	24					0	0	1	0	0	A	19258575	G	A	19258575	3	1	81	1	0	0	0	0	1	0	0	0	9506	1203	42	2	805	2	MEF2B	19	19258575	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	967	19258575	39870408	13485	17101											
NCAN	1463	broad.mit.edu	37	19	19329930	19329930	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:19329930C>A	ENST00000252575.6	+	3	379	c.280C>A	c.(280-282)Ctg>Atg	p.L94M		NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan		Ig-like V-type.				axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)			CTTGCCCATCCTGGTGGCCAA	0.642													9	16					0.00829132	0.00865729	1	1	0	A	19329930	C	A	19329930	3	1	81	1	0	0	0	0	1	0	0	0	10251	680	24	4	286	4	NCAN	19	19329930	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	71355	19329930	39799053	13486	17102											
NCAN	1463	broad.mit.edu	37	19	19330052	19330052	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:19330052C>A	ENST00000252575.6	+	3	501	c.402C>A	c.(400-402)gaC>gaA	p.D134E		NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan		Ig-like V-type.				axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)			GGGCCAGTGACTCTGGGCTGT	0.662													5	9					0.184627	0.18622	1	1	0	A	19330052	C	A	19330052	3	1	81	1	0	0	0	0	1	0	0	0	10251	564	20	4	408	4	NCAN	19	19330052	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	122	19330052	39798931	13487	17103											
NCAN	1463	broad.mit.edu	37	19	19351456	19351456	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:19351456G>A	ENST00000252575.6	+	12	3553	c.3454G>A	c.(3454-3456)Gtg>Atg	p.V1152M	NCAN_ENST00000538881.1_Missense_Mutation_p.V603M	NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan		C-type lectin.				axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)			CGACAGGATCGTGGAGAGAGA	0.632													20	35					0	0	1	0	0	A	19351456	G	A	19351456	3	1	81	1	0	0	0	0	1	0	0	0	10251	1145	40	1	3496	1	NCAN	19	19351456	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	21404	19351456	39777527	13488	17104											
GATAD2A	54815	broad.mit.edu	37	19	19603460	19603460	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:19603460A>C	ENST00000404158.1	+	6	891	c.473A>C	c.(472-474)aAa>aCa	p.K158T	GATAD2A_ENST00000358713.3_Missense_Mutation_p.K158T|GATAD2A_ENST00000360315.3_Missense_Mutation_p.K158T|GATAD2A_ENST00000429563.2_Missense_Mutation_p.K15T|GATAD2A_ENST00000537887.1_Intron|GATAD2A_ENST00000252577.5_Missense_Mutation_p.K158T			Q86YP4	P66A_HUMAN	GATA zinc finger domain containing 2A	158					DNA methylation|negative regulation of transcription, DNA-dependent	nuclear speck|NuRD complex	protein binding, bridging|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	13						GAAGAAGCAAAACTCGTGTTG	0.517													8	62					0	0	1	0	0	C	19603460	A	C	19603460	3	2	81	1	0	0	0	0	1	0	0	0	6300	14	1	5	483	5	GATAD2A	19	19603460	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	252004	19603460	39525523	13489	17105											
TSSK6	83983	broad.mit.edu	37	19	19625988	19625988	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:19625988G>A	ENST00000360913.3	-	1	850	c.249C>T	c.(247-249)aaC>aaT	p.N83N	TSSK6_ENST00000585580.3_Silent_p.N83N			Q9BXA6	TSSK6_HUMAN	testis-specific serine kinase 6	83	Protein kinase.				multicellular organismal development|sperm chromatin condensation		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	16						ACAGTTTCCCGTTGCACACCT	0.637													23	22					0	0	1	0	0	A	19625988	G	A	19625988	2	1	81	1	0	0	0	0	0	0	0	1	16733	1136	40	1		1	TSSK6	19	19625988	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	22528	19625988	39502995	13490	17106											
CILP2	148113	broad.mit.edu	37	19	19655297	19655297	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:19655297G>A	ENST00000586018.1	+	8	2063	c.1961G>A	c.(1960-1962)cGt>cAt	p.R654H	CILP2_ENST00000291495.5_Missense_Mutation_p.R648H			Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	648						proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						GTGGACCTCCGTGCGCCCGGC	0.721													3	28					0	0	1	0	0	A	19655297	G	A	19655297	3	1	81	1	0	0	0	0	1	0	0	0	3452	1145	40	1	1973	1	CILP2	19	19655297	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	29309	19655297	39473686	13491	17107											
GMIP	51291	broad.mit.edu	37	19	19740991	19740991	+	Silent	SNP	G	G	A	rs144936310	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:19740991G>A	ENST00000203556.4	-	21	2831	c.2694C>T	c.(2692-2694)acC>acT	p.T898T	GMIP_ENST00000587238.1_Silent_p.T872T|GMIP_ENST00000445806.2_Silent_p.T869T	NM_016573.2	NP_057657.2	Q9P107	GMIP_HUMAN	GEM interacting protein	898					negative regulation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	metal ion binding|protein binding|Rho GTPase activator activity			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						ATGTGATGGGGGTCTCCTCGC	0.701													9	16					0	0	1	0	0	A	19740991	G	A	19740991	2	1	81	1	0	0	0	0	0	0	0	1	6533	1219	43	2		2	GMIP	19	19740991	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	85694	19740991	39387992	13492	17108											
GMIP	51291	broad.mit.edu	37	19	19741109	19741109	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:19741109G>A	ENST00000203556.4	-	21	2713	c.2576C>T	c.(2575-2577)aCa>aTa	p.T859I	GMIP_ENST00000587238.1_Missense_Mutation_p.T833I|GMIP_ENST00000445806.2_Missense_Mutation_p.T830I	NM_016573.2	NP_057657.2	Q9P107	GMIP_HUMAN	GEM interacting protein	859					negative regulation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	metal ion binding|protein binding|Rho GTPase activator activity			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						ACGAGACTGTGTCCCCAGGAG	0.627													17	29					0	0	1	0	0	A	19741109	G	A	19741109	3	1	81	1	0	0	0	0	1	0	0	0	6533	1377	48	2	340	2	GMIP	19	19741109	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	118	19741109	39387874	13493	17109											
GMIP	51291	broad.mit.edu	37	19	19746001	19746001	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:19746001G>A	ENST00000203556.4	-	16	1719	c.1582C>T	c.(1582-1584)Cgc>Tgc	p.R528C	GMIP_ENST00000587238.1_Missense_Mutation_p.R502C|GMIP_ENST00000586269.1_5'UTR|GMIP_ENST00000445806.2_Missense_Mutation_p.R499C	NM_016573.2	NP_057657.2	Q9P107	GMIP_HUMAN	GEM interacting protein	528					negative regulation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	metal ion binding|protein binding|Rho GTPase activator activity			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						TCCAGGCAGCGCTTGTGGCAG	0.582													8	9					0	0	1	0	0	A	19746001	G	A	19746001	3	1	81	1	0	0	0	0	1	0	0	0	6533	1087	38	1	1354	1	GMIP	19	19746001	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	4892	19746001	39382982	13494	17110											
ATP13A1	57130	broad.mit.edu	37	19	19770598	19770598	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:19770598G>A	ENST00000357324.6	-	3	515	c.489C>T	c.(487-489)ggC>ggT	p.G163G	ATP13A1_ENST00000291503.5_Silent_p.G45G	NM_020410.2	NP_065143.2	Q9HD20	AT131_HUMAN	ATPase type 13A1	163					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						GCCCGTCTTCGCCCTGCGGTA	0.587													10	12					0	0	1	0	0	A	19770598	G	A	19770598	2	1	81	1	0	0	0	0	0	0	0	1	1122	1074	38	1		1	ATP13A1	19	19770598	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	24597	19770598	39358385	13495	17111											
ZNF101	94039	broad.mit.edu	37	19	19790898	19790898	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:19790898A>C	ENST00000592502.1	+	4	1210	c.1100A>C	c.(1099-1101)gAa>gCa	p.E367A	ZNF101_ENST00000415784.2_Missense_Mutation_p.E247A			Q8IZC7	ZN101_HUMAN	zinc finger protein 101	367					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E367V(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)	17						AAGCCATATGAATGTACAAGG	0.388													3	55					0	0	1	0	0	C	19790898	A	C	19790898	3	2	81	1	0	0	0	0	1	0	0	0	17772	246	9	5	1114	5	ZNF101	19	19790898	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	20300	19790898	39338085	13496	17112											
ZNF14	7561	broad.mit.edu	37	19	19822991	19822991	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:19822991G>A	ENST00000344099.3	-	4	1237	c.1099C>T	c.(1099-1101)Cga>Tga	p.R367*		NM_021030.2	NP_066358.2	P17017	ZNF14_HUMAN	zinc finger protein 14	367					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|cervix(2)|endometrium(1)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32		Renal(1328;0.0474)				TTGCCACATCGTTTACATTCA	0.363													27	48					0	0	1	0	0	A	19822991	G	A	19822991	4	1	81	1	0	0	0	0	0	1	0	0	17786	1153	40	1	833	1	ZNF14	19	19822991	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	32093	19822991	39305992	13497	17113	85	2									
ZNF14	7561	broad.mit.edu	37	19	19822999	19822999	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:19822999T>C	ENST00000344099.3	-	4	1229	c.1091A>G	c.(1090-1092)gAa>gGa	p.E364G		NM_021030.2	NP_066358.2	P17017	ZNF14_HUMAN	zinc finger protein 14	364					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|cervix(2)|endometrium(1)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32		Renal(1328;0.0474)				TCGTTTACATTCATATGGTTT	0.388													27	47					0	0	1	0	0	C	19822999	T	C	19822999	3	2	81	1	0	0	0	0	1	0	0	0	17786	1783	62	3	841	3	ZNF14	19	19822999	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	8	19822999	39305984	13498	17114	85	2									
ZNF506	440515	broad.mit.edu	37	19	19917798	19917798	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:19917798A>G	ENST00000443905.2	-	2	230	c.83T>C	c.(82-84)cTa>cCa	p.L28P	ZNF506_ENST00000587461.1_Missense_Mutation_p.L28P|ZNF506_ENST00000450683.2_Missense_Mutation_p.L28P|ZNF506_ENST00000540806.2_Missense_Mutation_p.L28P|CTC-559E9.4_ENST00000590274.1_lincRNA|ZNF506_ENST00000545006.1_Missense_Mutation_p.L28P|ZNF506_ENST00000587452.1_Missense_Mutation_p.L28P|CTC-559E9.6_ENST00000591884.1_RNA			Q5JVG8	ZN506_HUMAN	zinc finger protein 506	28	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(7)|lung(3)|skin(1)|stomach(1)	14						ATCCCTATATAGATTCCGCTG	0.398													15	111					0	0	1	0	0	G	19917798	A	G	19917798	3	3	81	1	0	0	0	0	1	0	0	0	18009	420	15	3	1263	3	ZNF506	19	19917798	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	94799	19917798	39211185	13499	17115											
ZNF93	81931	broad.mit.edu	37	19	20027398	20027398	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:20027398G>A	ENST00000343769.5	+	3	188	c.160G>A	c.(160-162)Gcc>Acc	p.A54T	ZNF93_ENST00000591366.1_Missense_Mutation_p.A54T|ZNF93_ENST00000592160.1_Missense_Mutation_p.A54T|AC007204.2_ENST00000592245.1_lincRNA	NM_031218.3	NP_112495.2	P35789	ZNF93_HUMAN	zinc finger protein 93	54	KRAB.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.A54T(1)		endometrium(6)|kidney(2)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	24						AGACCTGATCGCCCATCTGGA	0.403													38	55					0	0	1	0	0	A	20027398	G	A	20027398	3	1	81	1	0	0	0	0	1	0	0	0	18244	1087	38	1	170	1	ZNF93	19	20027398	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	109600	20027398	39101585	13500	17116											
ZNF682	91120	broad.mit.edu	37	19	20117136	20117136	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:20117136G>T	ENST00000397165.2	-	4	1335	c.1175C>A	c.(1174-1176)aCt>aAt	p.T392N	ZNF682_ENST00000358523.5_Missense_Mutation_p.T360N|ZNF682_ENST00000397162.1_Missense_Mutation_p.T360N|ZNF682_ENST00000597972.1_Missense_Mutation_p.T398N|ZNF682_ENST00000596019.1_Intron|ZNF682_ENST00000595736.1_Missense_Mutation_p.T316N	NM_033196.2	NP_149973.1	O95780	ZN682_HUMAN	zinc finger protein 682	392					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	14						TTTCTCTCCAGTGTGAATTCT	0.378													25	35					9.57634e-11	1.17731e-10	1	1	0	T	20117136	G	T	20117136	3	4	81	1	0	0	0	0	1	0	0	0	18145	1029	36	4	325	4	ZNF682	19	20117136	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	89738	20117136	39011847	13501	17117											
ZNF486	90649	broad.mit.edu	37	19	20295172	20295172	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:20295172T>C	ENST00000335117.8	+	2	95	c.38T>C	c.(37-39)tTg>tCg	p.L13S	CTC-260E6.6_ENST00000585498.1_RNA|CTC-260E6.6_ENST00000586657.1_RNA|ZNF486_ENST00000597083.1_Missense_Mutation_p.L13S|CTC-260E6.6_ENST00000593655.1_RNA	NM_052852.3	NP_443084.2	Q96H40	ZN486_HUMAN	zinc finger protein 486	13	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	11						CAGGAATCATTGCAATTTAGA	0.403													12	165					0	0	1	0	0	C	20295172	T	C	20295172	3	2	81	1	0	0	0	0	1	0	0	0	17996	1821	63	3	44	3	ZNF486	19	20295172	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	178036	20295172	38833811	13502	17118											
ZNF486	90649	broad.mit.edu	37	19	20307822	20307822	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:20307822A>C	ENST00000335117.8	+	4	360	c.303A>C	c.(301-303)aaA>aaC	p.K101N	CTC-260E6.6_ENST00000585498.1_RNA|CTC-260E6.6_ENST00000586657.1_RNA|CTC-260E6.6_ENST00000593655.1_RNA	NM_052852.3	NP_443084.2	Q96H40	ZN486_HUMAN	zinc finger protein 486	101					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	11						AGAGCATAAAAGATTCTTACC	0.343													21	56					0	0	1	0	0	C	20307822	A	C	20307822	3	2	81	1	0	0	0	0	1	0	0	0	17996	69	3	5	317	5	ZNF486	19	20307822	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	12650	20307822	38821161	13503	17119											
ZNF626	199777	broad.mit.edu	37	19	20808170	20808170	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:20808170T>C	ENST00000601440.1	-	4	659	c.513A>G	c.(511-513)aaA>aaG	p.K171K	CTC-513N18.7_ENST00000595094.1_lincRNA	NM_001076675.2	NP_001070143.1	Q68DY1	ZN626_HUMAN	zinc finger protein 626	171					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|lung(3)|skin(1)	6						ATTTGAAAGGTTTTTTCCCAG	0.343													19	28					0	0	1	0	0	C	20808170	T	C	20808170	2	2	81	1	0	0	0	0	0	0	0	1	18107	1722	60	3		3	ZNF626	19	20808170	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	500348	20808170	38320813	13504	17120											
ZNF626	199777	broad.mit.edu	37	19	20808276	20808276	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:20808276C>T	ENST00000601440.1	-	4	553	c.407G>A	c.(406-408)tGt>tAt	p.C136Y	CTC-513N18.7_ENST00000595094.1_lincRNA	NM_001076675.2	NP_001070143.1	Q68DY1	ZN626_HUMAN	zinc finger protein 626	136					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|lung(3)|skin(1)	6						AGTTGTCAAACATTGGTTAAG	0.328													24	37					0	0	1	0	0	T	20808276	C	T	20808276	3	4	81	1	0	0	0	0	1	0	0	0	18107	478	17	2	1183	2	ZNF626	19	20808276	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	106	20808276	38320707	13505	17121											
ZNF85	7639	broad.mit.edu	37	19	21131627	21131627	+	Silent	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:21131627A>C	ENST00000601023.1	+	2	776	c.130A>C	c.(130-132)Aga>Cga	p.R44R	ZNF85_ENST00000328178.8_Silent_p.R103R|ZNF85_ENST00000345030.6_Silent_p.R70R|ZNF85_ENST00000597314.1_3'UTR			Q03923	ZNF85_HUMAN	zinc finger protein 85	103	KRAB.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)	20						GACACTGAAAAGATATGGAAA	0.348													32	43					0	0	1	0	0	C	21131627	A	C	21131627	2	2	81	1	0	0	0	0	0	0	0	1	18237	64	3	5		5	ZNF85	19	21131627	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	323351	21131627	37997356	13506	17122											
ZNF85	7639	broad.mit.edu	37	19	21131860	21131860	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:21131860C>T	ENST00000601023.1	+	2	1009	c.363C>T	c.(361-363)ggC>ggT	p.G121G	ZNF85_ENST00000328178.8_Silent_p.G180G|ZNF85_ENST00000345030.6_Silent_p.G147G			Q03923	ZNF85_HUMAN	zinc finger protein 85	180						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)	20						CAAAATGTGGCAAATCATTTG	0.303													17	51					0	0	1	0	0	T	21131860	C	T	21131860	2	4	81	1	0	0	0	0	0	0	0	1	18237	697	25	2		2	ZNF85	19	21131860	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	233	21131860	37997123	13507	17123											
ZNF431	170959	broad.mit.edu	37	19	21366001	21366001	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:21366001C>T	ENST00000311048.7	+	5	1039	c.895C>T	c.(895-897)Cgg>Tgg	p.R299W	ZNF431_ENST00000594425.1_Intron|ZNF431_ENST00000600692.1_3'UTR	NM_133473.2	NP_597730.2	Q8TF32	ZN431_HUMAN	zinc finger protein 431	299					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23						AGCCTTCAACCGGTCCTCACA	0.408													8	43					0	0	1	0	0	T	21366001	C	T	21366001	3	4	81	1	0	0	0	0	1	0	0	0	17962	643	23	1	913	1	ZNF431	19	21366001	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	234141	21366001	37762982	13508	17124											
ZNF431	170959	broad.mit.edu	37	19	21366678	21366678	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:21366678C>A	ENST00000311048.7	+	5	1716	c.1572C>A	c.(1570-1572)tcC>tcA	p.S524S	ZNF431_ENST00000594425.1_Intron|ZNF431_ENST00000600692.1_3'UTR	NM_133473.2	NP_597730.2	Q8TF32	ZN431_HUMAN	zinc finger protein 431	524					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23						TTAACCAATCCTCAACTCTTA	0.328													20	36					1.64113e-05	1.8403e-05	1	1	0	A	21366678	C	A	21366678	2	1	81	1	0	0	0	0	0	0	0	1	17962	668	24	4		4	ZNF431	19	21366678	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	677	21366678	37762305	13509	17125											
ZNF708	7562	broad.mit.edu	37	19	21476213	21476213	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:21476213G>T	ENST00000356929.3	-	4	1752	c.1555C>A	c.(1555-1557)Ctt>Att	p.L519I		NM_021269.2	NP_067092.2	P17019	ZN708_HUMAN	zinc finger protein 708	519					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(2)|stomach(1)	32						TGTTTCATAAGGGTTGAGGAC	0.368													7	50					8.12818e-05	8.94031e-05	1	1	0	T	21476213	G	T	21476213	3	4	81	1	0	0	0	0	1	0	0	0	18168	1000	35	4	140	4	ZNF708	19	21476213	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	109535	21476213	37652770	13510	17126											
ZNF708	7562	broad.mit.edu	37	19	21477090	21477090	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:21477090A>G	ENST00000356929.3	-	4	875	c.678T>C	c.(676-678)tgT>tgC	p.C226C		NM_021269.2	NP_067092.2	P17019	ZN708_HUMAN	zinc finger protein 708	226					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(2)|stomach(1)	32						CACATTCTTCACATTTGTAGG	0.348													11	14					0	0	1	0	0	G	21477090	A	G	21477090	2	3	81	1	0	0	0	0	0	0	0	1	18168	157	6	3		3	ZNF708	19	21477090	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	877	21477090	37651893	13511	17127											
ZNF493	284443	broad.mit.edu	37	19	21607350	21607350	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:21607350A>G	ENST00000392288.2	+	4	1998	c.1889A>G	c.(1888-1890)aAa>aGa	p.K630R	CTD-2561J22.3_ENST00000600810.1_Intron|ZNF493_ENST00000355504.4_Missense_Mutation_p.K502R	NM_001076678.2	NP_001070146.1	Q6ZR52	ZN493_HUMAN	zinc finger protein 493	502					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						AAACCCTACAAATGTGAAGAA	0.388													9	17					0	0	1	0	0	G	21607350	A	G	21607350	3	3	81	1	0	0	0	0	1	0	0	0	18001	14	1	3	1966	3	ZNF493	19	21607350	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	130260	21607350	37521633	13512	17128											
ZNF429	353088	broad.mit.edu	37	19	21720457	21720457	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:21720457G>A	ENST00000358491.4	+	4	1810	c.1602G>A	c.(1600-1602)gaG>gaA	p.E534E	ZNF429_ENST00000597078.1_Intron	NM_001001415.2	NP_001001415.2	Q86V71	ZN429_HUMAN	zinc finger protein 429	534					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E534D(1)		endometrium(2)|kidney(2)|large_intestine(13)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	34						ATACTGGAGAGAAACCTTACA	0.363													19	26					0	0	1	0	0	A	21720457	G	A	21720457	2	1	81	1	0	0	0	0	0	0	0	1	17959	933	33	2		2	ZNF429	19	21720457	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	113107	21720457	37408526	13513	17129											
ZNF100	163227	broad.mit.edu	37	19	21909784	21909784	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:21909784G>T	ENST00000358296.6	-	5	1528	c.1330C>A	c.(1330-1332)Ctt>Att	p.L444I	ZNF100_ENST00000305570.6_Missense_Mutation_p.L380I	NM_173531.3	NP_775802.2	Q8IYN0	ZN100_HUMAN	zinc finger protein 100	444					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	21						TGGGTAGTAAGGTTTGAGGAC	0.408													5	68					3.59834e-05	3.99423e-05	1	1	0	T	21909784	G	T	21909784	3	4	81	1	0	0	0	0	1	0	0	0	17771	1000	35	4	302	4	ZNF100	19	21909784	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	189327	21909784	37219199	13514	17130											
ZNF100	163227	broad.mit.edu	37	19	21910280	21910280	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:21910280T>C	ENST00000358296.6	-	5	1032	c.834A>G	c.(832-834)acA>acG	p.T278T	ZNF100_ENST00000305570.6_Silent_p.T214T	NM_173531.3	NP_775802.2	Q8IYN0	ZN100_HUMAN	zinc finger protein 100	278					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	21						TTATCTTATGTGTAGTAAGGT	0.388													14	30					0	0	1	0	0	C	21910280	T	C	21910280	2	2	81	1	0	0	0	0	0	0	0	1	17771	1683	59	3		3	ZNF100	19	21910280	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	496	21910280	37218703	13515	17131											
ZNF43	7594	broad.mit.edu	37	19	21991967	21991967	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:21991967C>T	ENST00000594012.1	-	7	1368	c.854G>A	c.(853-855)tGt>tAt	p.C285Y	ZNF43_ENST00000595461.1_Missense_Mutation_p.C285Y|ZNF43_ENST00000598381.1_Missense_Mutation_p.C285Y|ZNF43_ENST00000354959.4_Missense_Mutation_p.C291Y	NM_001256649.1|NM_001256651.1|NM_001256653.1|NM_001256654.1	NP_001243578.1|NP_001243580.1|NP_001243582.1|NP_001243583.1	P17038	ZNF43_HUMAN	zinc finger protein 43	291					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		AGCTTTGGCACATTCTTTACA	0.358													9	55					0	0	1	0	0	T	21991967	C	T	21991967	3	4	81	1	0	0	0	0	1	0	0	0	17960	478	17	2	1561	2	ZNF43	19	21991967	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	81687	21991967	37137016	13516	17132											
ZNF43	7594	broad.mit.edu	37	19	22000714	22000714	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:22000714G>A	ENST00000594012.1	-	6	701	c.187C>T	c.(187-189)Cat>Tat	p.H63Y	ZNF43_ENST00000595461.1_Missense_Mutation_p.H63Y|ZNF43_ENST00000598381.1_Missense_Mutation_p.H63Y|ZNF43_ENST00000598288.1_Missense_Mutation_p.H63Y|ZNF43_ENST00000354959.4_Missense_Mutation_p.H69Y	NM_001256649.1|NM_001256651.1|NM_001256653.1|NM_001256654.1	NP_001243578.1|NP_001243580.1|NP_001243582.1|NP_001243583.1	P17038	ZNF43_HUMAN	zinc finger protein 43	69	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		ACCATTTCATGTCTCCTCATA	0.428													69	93					0	0	1	0	0	A	22000714	G	A	22000714	3	1	81	1	0	0	0	0	1	0	0	0	17960	1377	48	2	2232	2	ZNF43	19	22000714	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	8747	22000714	37128269	13517	17133											
ZNF676	163223	broad.mit.edu	37	19	22363485	22363485	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:22363485G>A	ENST00000397121.2	-	3	1351	c.1034C>T	c.(1033-1035)gCt>gTt	p.A345V		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	345					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				TCGATTAAAAGCTTTCCCGCA	0.413													10	71					0	0	1	0	0	A	22363485	G	A	22363485	3	1	81	1	0	0	0	0	1	0	0	0	18140	971	34	2	736	2	ZNF676	19	22363485	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	362771	22363485	36765498	13518	17134											
ZNF676	163223	broad.mit.edu	37	19	22375896	22375896	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:22375896G>A	ENST00000397121.2	-	2	369	c.52C>T	c.(52-54)Cca>Tca	p.P18S		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	18	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				ATCAGGTCTGGCTTAAAGGCA	0.408													19	52					0	0	1	0	0	A	22375896	G	A	22375896	3	1	81	1	0	0	0	0	1	0	0	0	18140	1203	42	2	1722	2	ZNF676	19	22375896	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	12411	22375896	36753087	13519	17135											
ZNF492	57615	broad.mit.edu	37	19	22846798	22846798	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:22846798G>T	ENST00000456783.2	+	4	571	c.327G>T	c.(325-327)caG>caT	p.Q109H		NM_020855.2	NP_065906.1	Q9P255	ZN492_HUMAN	zinc finger protein 492	109					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)				CGACTACCCAGAACAAAATAT	0.308													4	12					0.000602214	0.000646338	1	1	0	T	22846798	G	T	22846798	3	4	81	1	0	0	0	0	1	0	0	0	18000	933	33	4	337	4	ZNF492	19	22846798	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	470902	22846798	36282185	13520	17136											
ZNF99	7652	broad.mit.edu	37	19	22940405	22940405	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:22940405G>T	ENST00000397104.3	-	5	2032	c.2033C>A	c.(2032-2034)gCt>gAt	p.A678D	ZNF99_ENST00000596209.1_Missense_Mutation_p.A769D					zinc finger protein 99											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				ATGCTTAAAAGCTTTGCCACA	0.353													10	17					5.50884e-06	6.24461e-06	1	1	0	T	22940405	G	T	22940405	3	4	81	1	0	0	0	0	1	0	0	0	18246	971	34	4	1091	4	ZNF99	19	22940405	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	93607	22940405	36188578	13521	17137											
ZNF91	7644	broad.mit.edu	37	19	23544668	23544668	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:23544668A>G	ENST00000300619.7	-	4	1318	c.1113T>C	c.(1111-1113)acT>acC	p.T371T	ZNF91_ENST00000397082.2_Silent_p.T339T|ZNF91_ENST00000599743.1_Intron	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	371						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding						all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				CTTCAGTATGAGTTATCTTAT	0.348													9	60					0	0	1	0	0	G	23544668	A	G	23544668	2	3	81	1	0	0	0	0	0	0	0	1	18242	291	11	3		3	ZNF91	19	23544668	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	604263	23544668	35584315	13522	17138											
ZNF675	171392	broad.mit.edu	37	19	23836033	23836033	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:23836033C>T	ENST00000359788.4	-	4	1870	c.1702G>A	c.(1702-1704)Gtg>Atg	p.V568M	ZNF675_ENST00000601935.1_Intron|ZNF675_ENST00000600313.1_Intron|ZNF675_ENST00000596211.1_Intron	NM_138330.2	NP_612203.2	Q8TD23	ZN675_HUMAN	zinc finger protein 675	568					bone resorption|cytokine-mediated signaling pathway|hemopoiesis|I-kappaB kinase/NF-kappaB cascade|negative regulation of JNK cascade|negative regulation of osteoclast differentiation|negative regulation of protein kinase activity|negative regulation of transcription, DNA-dependent|regulation of ossification|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				CATTATCACACATTCCAGTTC	0.299													11	23					0	0	1	0	0	T	23836033	C	T	23836033	3	4	81	1	0	0	0	0	1	0	0	0	18139	478	17	2	8	2	ZNF675	19	23836033	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	291365	23836033	35292950	13523	17139											
ZNF681	148213	broad.mit.edu	37	19	23926698	23926698	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:23926698G>A	ENST00000402377.3	-	4	1795	c.1654C>T	c.(1654-1656)Cat>Tat	p.H552Y	ZNF681_ENST00000395385.3_Missense_Mutation_p.H483Y	NM_138286.2	NP_612143.2	Q96N22	ZN681_HUMAN	zinc finger protein 681	552					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3)	21		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				ATTACCTTATGTGTAGCAAGA	0.383													11	23					0	0	1	0	0	A	23926698	G	A	23926698	3	1	81	1	0	0	0	0	1	0	0	0	18144	1377	48	2	287	2	ZNF681	19	23926698	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	90665	23926698	35202285	13524	17140											
ZNF254	9534	broad.mit.edu	37	19	24310260	24310260	+	Silent	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:24310260A>T	ENST00000357002.4	+	4	1573	c.1458A>T	c.(1456-1458)ggA>ggT	p.G486G	ZNF254_ENST00000342944.6_Silent_p.G401G	NM_001278661.1|NM_001278662.1|NM_001278664.1|NM_001278677.1|NM_001278678.1|NM_203282.2	NP_001265590.1|NP_001265591.1|NP_001265593.1|NP_001265606.1|NP_001265607.1|NP_975011.3	O75437	ZN254_HUMAN	zinc finger protein 254	486					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)				TGCACACTGGAGAGAAACCCT	0.388													4	48					0	0	1	0	0	T	24310260	A	T	24310260	2	4	81	1	0	0	0	0	0	0	0	1	17856	291	11	5		5	ZNF254	19	24310260	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	383562	24310260	34818723	13525	17141											
ZNF536	9745	broad.mit.edu	37	19	30934888	30934888	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:30934888G>A	ENST00000355537.3	+	2	566	c.419G>A	c.(418-420)cGc>cAc	p.R140H		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	140					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					AAGCGCTTCCGCTTCAACAGC	0.637													16	20					0	0	1	0	0	A	30934888	G	A	30934888	3	1	81	1	0	0	0	0	1	0	0	0	18031	1087	38	1	421	1	ZNF536	19	30934888	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	6624628	30934888	28194095	13526	17142											
ZNF536	9745	broad.mit.edu	37	19	30935223	30935223	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:30935223G>A	ENST00000355537.3	+	2	901	c.754G>A	c.(754-756)Gcc>Acc	p.A252T		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	252					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					TCCCGACGTGGCCCACCCGGT	0.736													6	6					0	0	1	0	0	A	30935223	G	A	30935223	3	1	81	1	0	0	0	0	1	0	0	0	18031	1203	42	2	756	2	ZNF536	19	30935223	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	335	30935223	28193760	13527	17143											
ZNF536	9745	broad.mit.edu	37	19	30935400	30935400	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:30935400C>T	ENST00000355537.3	+	2	1078	c.931C>T	c.(931-933)Cag>Tag	p.Q311*		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	311					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					CGCGGCTTCGCAGGAGGAGGA	0.642													10	101					0	0	1	0	0	T	30935400	C	T	30935400	4	4	81	1	0	0	0	0	0	1	0	0	18031	711	25	2	933	2	ZNF536	19	30935400	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	177	30935400	28193583	13528	17144											
ZNF536	9745	broad.mit.edu	37	19	31040234	31040234	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:31040234G>T	ENST00000355537.3	+	4	3855	c.3708G>T	c.(3706-3708)caG>caT	p.Q1236H		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	1236					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	p.Q1236H(1)		NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					GGCACAGCCAGGGTCTTCTCC	0.672													6	24					1.26484e-09	1.5311e-09	1	1	0	T	31040234	G	T	31040234	3	4	81	1	0	0	0	0	1	0	0	0	18031	991	35	4	3718	4	ZNF536	19	31040234	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	104834	31040234	28088749	13529	17145											
ZNF507	22847	broad.mit.edu	37	19	32844172	32844172	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:32844172C>T	ENST00000311921.4	+	2	628	c.436C>T	c.(436-438)Caa>Taa	p.Q146*	ZNF507_ENST00000544431.1_Nonsense_Mutation_p.Q146*|ZNF507_ENST00000355898.5_Nonsense_Mutation_p.Q146*	NM_001136156.1|NM_014910.4	NP_001129628.1|NP_055725.2	Q8TCN5	ZN507_HUMAN	zinc finger protein 507						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	31	Esophageal squamous(110;0.162)					TCATATTAAGCAACATGGTCA	0.418													19	30					0	0	1	0	0	T	32844172	C	T	32844172	4	4	81	1	0	0	0	0	0	1	0	0	18010	711	25	2	438	2	ZNF507	19	32844172	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1803938	32844172	26284811	13530	17146											
ZNF507	22847	broad.mit.edu	37	19	32844255	32844255	+	Silent	SNP	C	C	T	rs148132440		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:32844255C>T	ENST00000311921.4	+	2	711	c.519C>T	c.(517-519)caC>caT	p.H173H	ZNF507_ENST00000544431.1_Silent_p.H173H|ZNF507_ENST00000355898.5_Silent_p.H173H	NM_001136156.1|NM_014910.4	NP_001129628.1|NP_055725.2	Q8TCN5	ZN507_HUMAN	zinc finger protein 507						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	31	Esophageal squamous(110;0.162)					TTGAAGCCCACGTGGTGAATG	0.448													22	34					0	0	1	0	0	T	32844255	C	T	32844255	2	4	81	1	0	0	0	0	0	0	0	1	18010	535	19	1		1	ZNF507	19	32844255	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	83	32844255	26284728	13531	17147											
ZNF507	22847	broad.mit.edu	37	19	32844567	32844567	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:32844567C>A	ENST00000311921.4	+	2	1023	c.831C>A	c.(829-831)tcC>tcA	p.S277S	ZNF507_ENST00000544431.1_Silent_p.S277S|ZNF507_ENST00000355898.5_Silent_p.S277S	NM_001136156.1|NM_014910.4	NP_001129628.1|NP_055725.2	Q8TCN5	ZN507_HUMAN	zinc finger protein 507						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	31	Esophageal squamous(110;0.162)					TTGATTGCTCCTATCCAATCT	0.478													6	90					3.59834e-05	3.99423e-05	1	1	0	A	32844567	C	A	32844567	2	1	81	1	0	0	0	0	0	0	0	1	18010	668	24	4		4	ZNF507	19	32844567	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	312	32844567	26284416	13532	17148											
ZNF507	22847	broad.mit.edu	37	19	32844694	32844694	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:32844694C>T	ENST00000311921.4	+	2	1150	c.958C>T	c.(958-960)Cca>Tca	p.P320S	ZNF507_ENST00000544431.1_Missense_Mutation_p.P320S|ZNF507_ENST00000355898.5_Missense_Mutation_p.P320S	NM_001136156.1|NM_014910.4	NP_001129628.1|NP_055725.2	Q8TCN5	ZN507_HUMAN	zinc finger protein 507						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	31	Esophageal squamous(110;0.162)					CCACAATGGGCCATCAGTGCA	0.498													70	123					0	0	1	0	0	T	32844694	C	T	32844694	3	4	81	1	0	0	0	0	1	0	0	0	18010	739	26	2	960	2	ZNF507	19	32844694	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	127	32844694	26284289	13533	17149											
ANKRD27	84079	broad.mit.edu	37	19	33092956	33092956	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:33092956C>T	ENST00000306065.4	-	26	2890	c.2732G>A	c.(2731-2733)cGc>cAc	p.R911H		NM_032139.2	NP_115515.2	Q96NW4	ANR27_HUMAN	ankyrin repeat domain 27 (VPS9 domain)	911					early endosome to late endosome transport	early endosome|lysosome	GTPase activator activity|guanyl-nucleotide exchange factor activity			breast(3)|endometrium(7)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	42	Esophageal squamous(110;0.137)					ATACTCCTTGCGGTCAGTTTC	0.383													37	102					0	0	1	0	0	T	33092956	C	T	33092956	3	4	81	1	0	0	0	0	1	0	0	0	651	768	27	1	436	1	ANKRD27	19	33092956	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	248262	33092956	26036027	13534	17150											
NUDT19	390916	broad.mit.edu	37	19	33200138	33200138	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:33200138T>C	ENST00000397061.3	+	2	762	c.762T>C	c.(760-762)atT>atC	p.I254I		NM_001105570.1	NP_001099040.1	A8MXV4	NUD19_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 19	254	Nudix hydrolase.					mitochondrion|peroxisome	hydrolase activity|metal ion binding			endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	8	Esophageal squamous(110;0.137)					CAAAAGAAATTTGGTTGCCAC	0.428													28	278					0	0	1	0	0	C	33200138	T	C	33200138	2	2	81	1	0	0	0	0	0	0	0	1	10784	1829	64	3		3	NUDT19	19	33200138	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	107182	33200138	25928845	13535	17151											
SLC7A9	11136	broad.mit.edu	37	19	33334843	33334843	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:33334843G>A	ENST00000023064.4	-	10	1183	c.992C>T	c.(991-993)gCg>gTg	p.A331V	SLC7A9_ENST00000587772.1_Missense_Mutation_p.A331V|SLC7A9_ENST00000590341.1_Missense_Mutation_p.A331V	NM_001126335.1|NM_001243036.1|NM_014270.4	NP_001119807.1|NP_001229965.1|NP_055085.1	P82251	BAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, bo,+ system), member 9	331			A -> V (in CSNU; non-classic type I).		blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	integral to plasma membrane	L-cystine transmembrane transporter activity|neutral amino acid transmembrane transporter activity|peptide antigen binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32	Esophageal squamous(110;0.137)				L-Cystine(DB00138)	CTCCCGGCCCGCCACGTAAAT	0.572													13	7					0	0	1	0	0	A	33334843	G	A	33334843	3	1	81	1	0	0	0	0	1	0	0	0	14760	1087	38	1	487	1	SLC7A9	19	33334843	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	134705	33334843	25794140	13536	17152											
SLC7A9	11136	broad.mit.edu	37	19	33355633	33355633	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:33355633G>A	ENST00000023064.4	-	3	328	c.137C>T	c.(136-138)tCt>tTt	p.S46F	SLC7A9_ENST00000587772.1_Missense_Mutation_p.S46F|SLC7A9_ENST00000590341.1_Missense_Mutation_p.S46F	NM_001126335.1|NM_001243036.1|NM_014270.4	NP_001119807.1|NP_001229965.1|NP_055085.1	P82251	BAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, bo,+ system), member 9	46					blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	integral to plasma membrane	L-cystine transmembrane transporter activity|neutral amino acid transmembrane transporter activity|peptide antigen binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32	Esophageal squamous(110;0.137)				L-Cystine(DB00138)	GAAGATCCCAGAGCCAATGAT	0.632													30	94					0	0	1	0	0	A	33355633	G	A	33355633	3	1	81	1	0	0	0	0	1	0	0	0	14760	942	33	2	1370	2	SLC7A9	19	33355633	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	20790	33355633	25773350	13537	17153											
WDR88	126248	broad.mit.edu	37	19	33666397	33666397	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:33666397C>T	ENST00000355868.3	+	11	1414	c.1338C>T	c.(1336-1338)ggC>ggT	p.G446G	WDR88_ENST00000361680.2_3'UTR	NM_173479.3	NP_775750.3	Q6ZMY6	WDR88_HUMAN	WD repeat domain 88	446										breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	25	Esophageal squamous(110;0.137)					ATACAAGGGGCTTGCCAGCAG	0.517													51	45					0	0	1	0	0	T	33666397	C	T	33666397	2	4	81	1	0	0	0	0	0	0	0	1	17395	784	28	2		2	WDR88	19	33666397	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	310764	33666397	25462586	13538	17154											
CEBPG	1054	broad.mit.edu	37	19	33870462	33870463	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:33870462_33870463insA	ENST00000284000.4	+	2	979_980	c.317_318insA	c.(316-321)gcaaaafs	p.AK106fs	CEBPG_ENST00000585933.2_Frame_Shift_Ins_p.AK106fs	NM_001806.3	NP_001797.1	P53567	CEBPG_HUMAN	CCAAT/enhancer binding protein (C/EBP), gamma		Leucine-zipper.				B cell differentiation|enucleate erythrocyte differentiation|liver development|natural killer cell mediated cytotoxicity|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of DNA binding|positive regulation of DNA repair|positive regulation of interferon-gamma biosynthetic process|positive regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter	nucleus	protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)	7	Esophageal squamous(110;0.137)					CGGTTGGAAGCAAAAATCAAAT	0.416													9	15	---	---	---	---						A	33870463	-	A	33870462	7	5	81	1	0	1	1	0	0	0	0	0	3225	710	25	0	319	0	CEBPG	19	33870462	Frame_Shift_Ins	INS	-	TCGA-DU-6392-01A-11D-1705-08	204065	33870462	25258521	13539	17155											
CHST8	64377	broad.mit.edu	37	19	34263486	34263486	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:34263486G>A	ENST00000262622.4	+	4	1551	c.793G>A	c.(793-795)Gtg>Atg	p.V265M	CHST8_ENST00000438847.3_Missense_Mutation_p.V265M|CHST8_ENST00000434302.1_Missense_Mutation_p.V265M	NM_022467.3	NP_071912.2	Q9H2A9	CHST8_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8						carbohydrate biosynthetic process|central nervous system development|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(5)	27	Esophageal squamous(110;0.162)					CGAGAGGCTGGTGTCCGCCTT	0.622													6	44					0	0	1	0	0	A	34263486	G	A	34263486	3	1	81	1	0	0	0	0	1	0	0	0	3432	1261	44	2	803	2	CHST8	19	34263486	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	393024	34263486	24865497	13540	17156											
LSM14A	26065	broad.mit.edu	37	19	34710693	34710693	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:34710693A>G	ENST00000544216.3	+	8	1124	c.1047A>G	c.(1045-1047)ggA>ggG	p.G349G	LSM14A_ENST00000433627.5_Silent_p.G349G|LSM14A_ENST00000540746.2_Silent_p.G308G	NM_015578.2	NP_056393.2	Q8ND56	LS14A_HUMAN	LSM14A, SCD6 homolog A (S. cerevisiae)	349					cytoplasmic mRNA processing body assembly|multicellular organismal development|regulation of translation	cytoplasmic mRNA processing body|intracellular membrane-bounded organelle|stress granule				breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(7)|skin(1)	22	Esophageal squamous(110;0.162)					ACAGTGAAGGAAATGCCGATG	0.353													8	33					0	0	1	0	0	G	34710693	A	G	34710693	2	3	81	1	0	0	0	0	0	0	0	1	9099	233	9	3		3	LSM14A	19	34710693	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	447207	34710693	24418290	13541	17157											
KIAA0355	9710	broad.mit.edu	37	19	34791788	34791788	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:34791788C>A	ENST00000299505.6	+	2	1283	c.410C>A	c.(409-411)cCt>cAt	p.P137H		NM_014686.3	NP_055501.2	O15063	K0355_HUMAN	KIAA0355	137										breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	41	Esophageal squamous(110;0.162)					GCCATAAAGCCTGAGATCGCC	0.493													16	21					6.72482e-11	8.27642e-11	1	1	0	A	34791788	C	A	34791788	3	1	81	1	0	0	0	0	1	0	0	0	8212	681	24	4	412	4	KIAA0355	19	34791788	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	81095	34791788	24337195	13542	17158											
KIAA0355	9710	broad.mit.edu	37	19	34810870	34810870	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:34810870C>T	ENST00000299505.6	+	3	1427	c.554C>T	c.(553-555)gCg>gTg	p.A185V		NM_014686.3	NP_055501.2	O15063	K0355_HUMAN	KIAA0355	185										breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	41	Esophageal squamous(110;0.162)					TTGACTCATGCGTTACAGAAG	0.527													7	114					0	0	1	0	0	T	34810870	C	T	34810870	3	4	81	1	0	0	0	0	1	0	0	0	8212	768	27	1	560	1	KIAA0355	19	34810870	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	19082	34810870	24318113	13543	17159											
GPI	2821	broad.mit.edu	37	19	34856219	34856219	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:34856219G>A	ENST00000415930.3	+	2	335	c.165G>A	c.(163-165)tgG>tgA	p.W55*	GPI_ENST00000586425.1_Nonsense_Mutation_p.W16*|GPI_ENST00000356487.5_Nonsense_Mutation_p.W16*	NM_001184722.1	NP_001171651.1	P06744	G6PI_HUMAN	glucose-6-phosphate isomerase	16					angiogenesis|gluconeogenesis|glycolysis|hemostasis|humoral immune response	cytosol|extracellular space|nucleus|plasma membrane	cytokine activity|glucose-6-phosphate isomerase activity|growth factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	25	Esophageal squamous(110;0.162)					TGCAGCAATGGTACCGCGAGC	0.667													8	9					0	0	1	0	0	A	34856219	G	A	34856219	4	1	81	1	0	0	0	0	0	1	0	0	6651	1270	44	2	171	2	GPI	19	34856219	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	45349	34856219	24272764	13544	17160											
GPI	2821	broad.mit.edu	37	19	34890140	34890140	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:34890140C>T	ENST00000415930.3	+	15	1501	c.1331C>T	c.(1330-1332)aCa>aTa	p.T444I	GPI_ENST00000586425.1_Missense_Mutation_p.T433I|GPI_ENST00000356487.5_Missense_Mutation_p.T433I	NM_001184722.1	NP_001171651.1	P06744	G6PI_HUMAN	glucose-6-phosphate isomerase	433					angiogenesis|gluconeogenesis|glycolysis|hemostasis|humoral immune response	cytosol|extracellular space|nucleus|plasma membrane	cytokine activity|glucose-6-phosphate isomerase activity|growth factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	25	Esophageal squamous(110;0.162)					TTGGCCCAGACAGAGGCCCTG	0.587													9	22					0	0	1	0	0	T	34890140	C	T	34890140	3	4	81	1	0	0	0	0	1	0	0	0	6651	478	17	2	1477	2	GPI	19	34890140	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	33921	34890140	24238843	13545	17161											
UBA2	10054	broad.mit.edu	37	19	34935965	34935965	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:34935965G>A	ENST00000439527.2	+	8	920	c.422G>A	c.(421-423)cGt>cAt	p.R141H	UBA2_ENST00000246548.4_Missense_Mutation_p.R237H			Q9UBT2	SAE2_HUMAN	ubiquitin-like modifier activating enzyme 2	237					protein sumoylation	nucleus	ATP binding|enzyme activator activity|ligase activity|metal ion binding|protein heterodimerization activity|SUMO activating enzyme activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	20	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)			GACATTAAACGTATTTCTACT	0.328													8	75					0	0	1	0	0	A	34935965	G	A	34935965	3	1	81	1	0	0	0	0	1	0	0	0	16889	1145	40	1	740	1	UBA2	19	34935965	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	45825	34935965	24193018	13546	17162											
UBA2	10054	broad.mit.edu	37	19	34936026	34936026	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:34936026G>T	ENST00000439527.2	+	8	981	c.483G>T	c.(481-483)aaG>aaT	p.K161N	UBA2_ENST00000246548.4_Splice_Site_p.K257N			Q9UBT2	SAE2_HUMAN	ubiquitin-like modifier activating enzyme 2	257					protein sumoylation	nucleus	ATP binding|enzyme activator activity|ligase activity|metal ion binding|protein heterodimerization activity|SUMO activating enzyme activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	20	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)			TTTTTACCAAGGTTAGATTTA	0.308													28	46					4.22769e-11	5.22336e-11	1	1	0	T	34936026	G	T	34936026	5	4	81	1	0	0	0	0	0	0	1	0	16889	1014	35	4	801	4	UBA2	19	34936026	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	61	34936026	24192957	13547	17163											
ZNF302	55900	broad.mit.edu	37	19	35175594	35175594	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:35175594C>T	ENST00000505242.1	+	5	1146	c.652C>T	c.(652-654)Cgc>Tgc	p.R218C	ZNF302_ENST00000423823.2_Missense_Mutation_p.R218C|ZNF302_ENST00000457781.2_Missense_Mutation_p.R218C|ZNF302_ENST00000505365.2_3'UTR|ZNF302_ENST00000446502.2_Missense_Mutation_p.R262C			Q9NR11	ZN302_HUMAN	zinc finger protein 302	297					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(1)|large_intestine(2)|lung(2)|skin(1)	6	all_lung(56;6.16e-07)|Lung NSC(56;9.71e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			AATCCTCAGTCGCCACTGGAG	0.448													47	63					0	0	1	0	0	T	35175594	C	T	35175594	3	4	81	1	0	0	0	0	1	0	0	0	17889	884	31	1	666	1	ZNF302	19	35175594	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	239568	35175594	23953389	13548	17164											
ZNF30	90075	broad.mit.edu	37	19	35435001	35435002	+	Frame_Shift_Ins	INS	-	-	G	rs78688282	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:35435001_35435002insG	ENST00000439785.1	+	5	1578_1579	c.1134_1135insG	c.(1135-1137)gggfs	p.G379fs	ZNF30_ENST00000601142.1_Frame_Shift_Ins_p.G378fs|ZNF30_ENST00000426813.2_Frame_Shift_Ins_p.G297fs|ZNF30_ENST00000303586.7_Frame_Shift_Ins_p.G379fs|ZNF30_ENST00000601957.1_3'UTR	NM_001099438.1	NP_001092908.1	P17039	ZNF30_HUMAN	zinc finger protein 30	378			R -> K (in dbSNP:rs1345658).		regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)	16	all_lung(56;8.38e-08)|Lung NSC(56;1.31e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)	GBM - Glioblastoma multiforme(1328;0.0265)		GCAAGGAATGCGGGAGAACCTT	0.46													11	30	---	---	---	---						G	35435002	-	G	35435001	7	5	81	1	0	1	1	0	0	0	0	0	17887	776	27	0	1148	0	ZNF30	19	35435001	Frame_Shift_Ins	INS	-	TCGA-DU-6392-01A-11D-1705-08	259407	35435001	23693982	13549	17165											
ZNF792	126375	broad.mit.edu	37	19	35450383	35450383	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:35450383G>T	ENST00000404801.1	-	4	762	c.376C>A	c.(376-378)Ctg>Atg	p.L126M	ZNF792_ENST00000605484.1_Missense_Mutation_p.L59M	NM_175872.4	NP_787068.3	Q3KQV3	ZN792_HUMAN	zinc finger protein 792	126					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)	12	all_lung(56;4.18e-08)|Lung NSC(56;6.62e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			TGGGGGCACAGAGTTGCCTCG	0.507													9	86					0.000442599	0.000477972	1	1	0	T	35450383	G	T	35450383	3	4	81	1	0	0	0	0	1	0	0	0	18213	933	33	4	1526	4	ZNF792	19	35450383	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	15382	35450383	23678600	13550	17166											
GRAMD1A	57655	broad.mit.edu	37	19	35510153	35510153	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:35510153G>A	ENST00000599564.1	+	13	1604	c.1533G>A	c.(1531-1533)acG>acA	p.T511T	GRAMD1A_ENST00000411896.2_Silent_p.T417T|CTD-2527I21.14_ENST00000605640.1_RNA|GRAMD1A_ENST00000317991.5_Silent_p.T424T|GRAMD1A_ENST00000504615.2_Silent_p.T190T			Q96CP6	GRM1A_HUMAN	GRAM domain containing 1A	424						integral to membrane				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	19	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			GGGTGCTGACGTACACCATCC	0.682													9	25					0	0	1	0	0	A	35510153	G	A	35510153	2	1	81	1	0	0	0	0	0	0	0	1	6788	1132	40	1		1	GRAMD1A	19	35510153	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	59770	35510153	23618830	13551	17167											
FAM187B	148109	broad.mit.edu	37	19	35719072	35719072	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:35719072G>T	ENST00000324675.3	-	1	560	c.512C>A	c.(511-513)cCt>cAt	p.P171H		NM_152481.1	NP_689694.1	Q17R55	F187B_HUMAN	family with sequence similarity 187, member B	171						integral to membrane				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	9						TTCCTCCAGAGGCTCCTCAAT	0.617													5	48					3.59834e-05	3.99423e-05	1	1	0	T	35719072	G	T	35719072	3	4	81	1	0	0	0	0	1	0	0	0	5544	1000	35	4	605	4	FAM187B	19	35719072	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	208919	35719072	23409911	13552	17168											
LSR	51599	broad.mit.edu	37	19	35741347	35741347	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:35741347A>G	ENST00000602122.1	+	2	870	c.383A>G	c.(382-384)tAc>tGc	p.Y128C	LSR_ENST00000347609.4_Missense_Mutation_p.Y91C|LSR_ENST00000360798.3_Missense_Mutation_p.Y128C|LSR_ENST00000427250.1_Missense_Mutation_p.Y80C|LSR_ENST00000361790.3_Missense_Mutation_p.Y128C|LSR_ENST00000354900.3_Missense_Mutation_p.Y128C|LSR_ENST00000597933.1_3'UTR			Q86X29	LSR_HUMAN	lipolysis stimulated lipoprotein receptor	128	Ig-like V-type.				embryo development|liver development	chylomicron|integral to membrane|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle	receptor activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	13	all_lung(56;3.91e-09)|Lung NSC(56;5.64e-09)|Esophageal squamous(110;0.162)		Epithelial(14;1.33e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.29e-18)|all cancers(14;7.11e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)			ATCTGGAAGTACAAGTCTTTC	0.617													65	90					0	0	1	0	0	G	35741347	A	G	35741347	3	3	81	1	0	0	0	0	1	0	0	0	9109	391	14	3	389	3	LSR	19	35741347	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	22275	35741347	23387636	13553	17169											
USF2	7392	broad.mit.edu	37	19	35761456	35761456	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:35761456C>T	ENST00000222305.3	+	5	573	c.536C>T	c.(535-537)aCg>aTg	p.T179M	USF2_ENST00000595068.1_Missense_Mutation_p.T179M|USF2_ENST00000379134.3_Intron|USF2_ENST00000343550.5_Missense_Mutation_p.T112M|USF2_ENST00000594064.1_Missense_Mutation_p.T177M	NM_003367.2	NP_003358.1	Q15853	USF2_HUMAN	upstream transcription factor 2, c-fos interacting	179					lipid homeostasis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter by glucose	nucleus	bHLH transcription factor binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|urinary_tract(1)	13	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)		Epithelial(14;7.4e-20)|OV - Ovarian serous cystadenocarcinoma(14;6.47e-19)|all cancers(14;4.17e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)			GGAGATACTACGGCTGTGTCC	0.607													11	28					0	0	1	0	0	T	35761456	C	T	35761456	3	4	81	1	0	0	0	0	1	0	0	0	17093	536	19	1	554	1	USF2	19	35761456	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	20109	35761456	23367527	13554	17170											
CD22	933	broad.mit.edu	37	19	35827141	35827141	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:35827141G>A	ENST00000085219.5	+	4	681	c.615G>A	c.(613-615)aaG>aaA	p.K205K	CD22_ENST00000544992.2_Silent_p.K205K|CD22_ENST00000270311.6_Silent_p.K85K|CD22_ENST00000594250.1_Silent_p.K205K|CD22_ENST00000419549.2_Silent_p.K33K|CD22_ENST00000536635.2_Silent_p.K205K|CD22_ENST00000341773.6_Silent_p.K205K	NM_001771.3	NP_001762.2	P20273	CD22_HUMAN	CD22 molecule	205	Ig-like C2-type 1.				cell adhesion		protein binding|sugar binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		OspA lipoprotein(DB00045)	GCGAGCTCAAGTTCTCCCCAC	0.557													5	43					0	0	1	0	0	A	35827141	G	A	35827141	2	1	81	1	0	0	0	0	0	0	0	1	3007	1020	36	2		2	CD22	19	35827141	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	65685	35827141	23301842	13555	17171											
CD22	933	broad.mit.edu	37	19	35835805	35835805	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:35835805C>A	ENST00000085219.5	+	10	2175	c.2109C>A	c.(2107-2109)atC>atA	p.I703I	CD22_ENST00000544992.2_Silent_p.I703I|CD22_ENST00000270311.6_Silent_p.I583I|CD22_ENST00000594250.1_Silent_p.I526I|CD22_ENST00000419549.2_Silent_p.I531I|CD22_ENST00000536635.2_Silent_p.I615I|CD22_ENST00000341773.6_Silent_p.I526I	NM_001771.3	NP_001762.2	P20273	CD22_HUMAN	CD22 molecule	703					cell adhesion		protein binding|sugar binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		OspA lipoprotein(DB00045)	TCCTGGCAATCTGTGGGCTCA	0.617													70	68					5.00936e-31	6.68504e-31	1	1	0	A	35835805	C	A	35835805	2	1	81	1	0	0	0	0	0	0	0	1	3007	903	32	4		4	CD22	19	35835805	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	8664	35835805	23293178	13556	17172											
FFAR2	2867	broad.mit.edu	37	19	35940854	35940854	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:35940854G>A	ENST00000599180.2	+	2	318	c.238G>A	c.(238-240)Gtc>Atc	p.V80I	FFAR2_ENST00000601590.1_Intron|FFAR2_ENST00000246549.2_Missense_Mutation_p.V80I			O15552	FFAR2_HUMAN	free fatty acid receptor 2							integral to plasma membrane	G-protein coupled receptor activity|lipid binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(6)|skin(1)|urinary_tract(1)	22	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			CCTGCCCAAGGTCGTCTGCGC	0.622													10	16					0	0	1	0	0	A	35940854	G	A	35940854	3	1	81	1	0	0	0	0	1	0	0	0	5861	1261	44	2	240	2	FFAR2	19	35940854	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	105049	35940854	23188129	13557	17173											
DMKN	93099	broad.mit.edu	37	19	35991443	35991443	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:35991443C>A	ENST00000339686.3	-	12	1455	c.1279G>T	c.(1279-1281)Gac>Tac	p.D427Y	DMKN_ENST00000492341.2_Missense_Mutation_p.D74Y|DMKN_ENST00000443640.1_Missense_Mutation_p.D190Y|DMKN_ENST00000419602.1_Missense_Mutation_p.D416Y|DMKN_ENST00000467637.1_Missense_Mutation_p.D152Y|DMKN_ENST00000602781.1_Missense_Mutation_p.D140Y|DMKN_ENST00000408915.2_Missense_Mutation_p.D41Y|DMKN_ENST00000414866.2_Missense_Mutation_p.D140Y|DMKN_ENST00000436012.1_Missense_Mutation_p.D123Y|DMKN_ENST00000462126.1_5'UTR|DMKN_ENST00000472252.2_Missense_Mutation_p.D74Y|DMKN_ENST00000429837.1_Missense_Mutation_p.D386Y|DMKN_ENST00000402589.2_Missense_Mutation_p.D140Y|DMKN_ENST00000480502.1_Missense_Mutation_p.D121Y	NM_033317.4	NP_201574	Q6E0U4	DMKN_HUMAN	dermokine	427			D -> A (in dbSNP:rs909072).			extracellular region				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(2)	27	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			ACCTGATCGTCTCTGCCTGCA	0.597													8	7					0.00448238	0.00470627	1	1	0	A	35991443	C	A	35991443	3	1	81	1	0	0	0	0	1	0	0	0	4610	913	32	4	213	4	DMKN	19	35991443	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	50589	35991443	23137540	13558	17174											
SBSN	374897	broad.mit.edu	37	19	36017820	36017820	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:36017820G>A	ENST00000452271.2	-	1	1392	c.1364C>T	c.(1363-1365)gCa>gTa	p.A455V	SBSN_ENST00000518157.1_Intron	NM_001166034.1	NP_001159506.1	Q6UWP8	SBSN_HUMAN	suprabasin	112						extracellular region				large_intestine(5)|lung(6)|ovary(1)|prostate(2)	14	all_lung(56;1.62e-08)|Lung NSC(56;2.47e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			AAACTGCCCTGCCTCCTTCCC	0.607													3	8					0	0	1	0	0	A	36017820	G	A	36017820	3	1	81	1	0	0	0	0	1	0	0	0	13917	1319	46	2	424	2	SBSN	19	36017820	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	26377	36017820	23111163	13559	17175											
GAPDHS	26330	broad.mit.edu	37	19	36034625	36034625	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:36034625A>G	ENST00000222286.4	+	9	1068	c.952A>G	c.(952-954)Acc>Gcc	p.T318A	AD000090.2_ENST00000589137.1_RNA|AD000090.2_ENST00000588286.1_RNA|AD000090.2_ENST00000444728.1_RNA|AD000090.2_ENST00000590717.1_RNA	NM_014364.4	NP_055179.1	O14556	G3PT_HUMAN	glyceraldehyde-3-phosphate dehydrogenase, spermatogenic	318					gluconeogenesis|glycolysis|positive regulation of glycolysis|sperm motility	cytosol	glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity|NAD binding|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)	11	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		NADH(DB00157)	CGTGGACCTGACCTGCCGCCT	0.612													11	45					0	0	1	0	0	G	36034625	A	G	36034625	3	3	81	1	0	0	0	0	1	0	0	0	6277	275	10	3	986	3	GAPDHS	19	36034625	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	16805	36034625	23094358	13560	17176											
ATP4A	495	broad.mit.edu	37	19	36044680	36044680	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:36044680G>T	ENST00000262623.3	-	17	2561	c.2533C>A	c.(2533-2535)Ctg>Atg	p.L845M		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	845					ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)	CGTGGACGCAGGTGCATGATG	0.607													5	7					1.23904e-05	1.39156e-05	1	1	0	T	36044680	G	T	36044680	3	4	81	1	0	0	0	0	1	0	0	0	1144	991	35	4	598	4	ATP4A	19	36044680	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	10055	36044680	23084303	13561	17177											
ATP4A	495	broad.mit.edu	37	19	36053484	36053484	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:36053484C>T	ENST00000262623.3	-	4	301	c.273G>A	c.(271-273)ctG>ctA	p.L91L		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	91					ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)	GTGGTGGCCGCAGTGCGTTGG	0.706													7	5					0	0	1	0	0	T	36053484	C	T	36053484	2	4	81	1	0	0	0	0	0	0	0	1	1144	697	25	2		2	ATP4A	19	36053484	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	8804	36053484	23075499	13562	17178											
HAUS5	23354	broad.mit.edu	37	19	36109559	36109559	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:36109559T>G	ENST00000203166.5	+	12	999	c.974T>G	c.(973-975)cTg>cGg	p.L325R	HAUS5_ENST00000379045.2_3'UTR	NM_015302.1	NP_056117.1	O94927	HAUS5_HUMAN	HAUS augmin-like complex, subunit 5	325					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle				NS(1)|breast(2)|cervix(3)|endometrium(1)|large_intestine(2)|lung(5)|skin(2)	16						CTCCAGGGCCTGGTGGAGGAG	0.662													5	44					0	0	1	0	0	G	36109559	T	G	36109559	3	3	81	1	0	0	0	0	1	0	0	0	7010	1580	55	5	1020	5	HAUS5	19	36109559	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	56075	36109559	23019424	13563	17179											
HAUS5	23354	broad.mit.edu	37	19	36110348	36110348	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:36110348G>A	ENST00000203166.5	+	14	1227	c.1202G>A	c.(1201-1203)cGc>cAc	p.R401H	HAUS5_ENST00000379045.2_3'UTR	NM_015302.1	NP_056117.1	O94927	HAUS5_HUMAN	HAUS augmin-like complex, subunit 5	401					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle				NS(1)|breast(2)|cervix(3)|endometrium(1)|large_intestine(2)|lung(5)|skin(2)	16						GAACAGGTCCGCCTGCTCATC	0.632													18	22					0	0	1	0	0	A	36110348	G	A	36110348	3	1	81	1	0	0	0	0	1	0	0	0	7010	1087	38	1	1256	1	HAUS5	19	36110348	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	789	36110348	23018635	13564	17180											
RBM42	79171	broad.mit.edu	37	19	36124698	36124698	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:36124698C>T	ENST00000262633.4	+	7	899	c.794C>T	c.(793-795)gCt>gTt	p.A265V	RBM42_ENST00000589871.1_Missense_Mutation_p.A243V|RBM42_ENST00000586618.1_Intron|RBM42_ENST00000589559.1_Missense_Mutation_p.A236V|RBM42_ENST00000360475.4_Missense_Mutation_p.A236V|RBM42_ENST00000592202.1_Missense_Mutation_p.A211V|RBM42_ENST00000588161.1_Missense_Mutation_p.A235V	NM_024321.3	NP_077297.2	Q9BTD8	RBM42_HUMAN	RNA binding motif protein 42	265	Necessary for interaction with HNRNPK (By similarity).|Pro-rich.					cytoplasm|nucleus	nucleotide binding|RNA binding			breast(1)|endometrium(3)|large_intestine(7)|lung(9)|prostate(1)	21	all_lung(56;1.58e-07)|Lung NSC(56;2.43e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			GCTAGCGCGGCTGTGGCCGTG	0.721													3	2					0	0	1	0	0	T	36124698	C	T	36124698	3	4	81	1	0	0	0	0	1	0	0	0	13188	797	28	2	820	2	RBM42	19	36124698	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	14350	36124698	23004285	13565	17181											
RBM42	79171	broad.mit.edu	37	19	36124733	36124733	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:36124733C>T	ENST00000262633.4	+	7	934	c.829C>T	c.(829-831)Cct>Tct	p.P277S	RBM42_ENST00000589871.1_Missense_Mutation_p.P255S|RBM42_ENST00000586618.1_Intron|RBM42_ENST00000589559.1_Missense_Mutation_p.P248S|RBM42_ENST00000360475.4_Missense_Mutation_p.P248S|RBM42_ENST00000592202.1_Missense_Mutation_p.P223S|RBM42_ENST00000588161.1_Missense_Mutation_p.P247S	NM_024321.3	NP_077297.2	Q9BTD8	RBM42_HUMAN	RNA binding motif protein 42	277	Necessary for interaction with HNRNPK (By similarity).|Pro-rich.					cytoplasm|nucleus	nucleotide binding|RNA binding			breast(1)|endometrium(3)|large_intestine(7)|lung(9)|prostate(1)	21	all_lung(56;1.58e-07)|Lung NSC(56;2.43e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			CCCAGCTGGCCCTGCAGTCAT	0.731													3	1					0	0	1	0	0	T	36124733	C	T	36124733	3	4	81	1	0	0	0	0	1	0	0	0	13188	623	22	2	855	2	RBM42	19	36124733	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	35	36124733	23004250	13566	17182											
RBM42	79171	broad.mit.edu	37	19	36128403	36128403	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:36128403C>A	ENST00000262633.4	+	10	1495	c.1390C>A	c.(1390-1392)Ctg>Atg	p.L464M	RBM42_ENST00000589871.1_Missense_Mutation_p.L442M|RBM42_ENST00000586618.1_Missense_Mutation_p.L168M|RBM42_ENST00000589559.1_Missense_Mutation_p.L370M|RBM42_ENST00000360475.4_Missense_Mutation_p.L435M|RBM42_ENST00000592202.1_Missense_Mutation_p.L410M|RBM42_ENST00000588161.1_Missense_Mutation_p.L434M	NM_024321.3	NP_077297.2	Q9BTD8	RBM42_HUMAN	RNA binding motif protein 42	464	Necessary for interaction with HNRNPK (By similarity).					cytoplasm|nucleus	nucleotide binding|RNA binding			breast(1)|endometrium(3)|large_intestine(7)|lung(9)|prostate(1)	21	all_lung(56;1.58e-07)|Lung NSC(56;2.43e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			GGACCGGAATCTGGACGTGGT	0.617													15	25					3.27435e-08	3.88014e-08	1	1	0	A	36128403	C	A	36128403	3	1	81	1	0	0	0	0	1	0	0	0	13188	912	32	4	1428	4	RBM42	19	36128403	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3670	36128403	23000580	13567	17183											
C19orf55	148137	broad.mit.edu	37	19	36259311	36259311	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:36259311C>T	ENST00000396908.4	+	12	1377	c.1304C>T	c.(1303-1305)gCg>gTg	p.A435V	C19orf55_ENST00000544099.1_3'UTR	NM_001039887.2	NP_001034976.2	Q2NL68	CS055_HUMAN	chromosome 19 open reading frame 55	436										cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)	15	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TCCAGGGAAGCGGATGCCCGA	0.627													12	23					0	0	1	0	0	T	36259311	C	T	36259311	3	4	81	1	0	0	0	0	1	0	0	0	1949	783	27	1		1	C19orf55	19	36259311	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	130908	36259311	22869672	13568	17184											
ARHGAP33	115703	broad.mit.edu	37	19	36272095	36272095	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:36272095C>T	ENST00000007510.4	+	12	1170	c.1026C>T	c.(1024-1026)caC>caT	p.H342H	ARHGAP33_ENST00000314737.5_Silent_p.H342H|ARHGAP33_ENST00000378944.5_Silent_p.H206H			O14559	RHG33_HUMAN	Rho GTPase activating protein 33	342	Rho-GAP.				cell communication|protein transport|signal transduction	intracellular	GTPase activator activity|phosphatidylinositol binding|protein binding	p.H342H(1)		endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	37						TTGAGGCCCACGGGGTGGTGG	0.647													20	49					0	0	1	0	0	T	36272095	C	T	36272095	2	4	81	1	0	0	0	0	0	0	0	1	879	535	19	1		1	ARHGAP33	19	36272095	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	12784	36272095	22856888	13569	17185											
ARHGAP33	115703	broad.mit.edu	37	19	36276168	36276168	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:36276168G>A	ENST00000007510.4	+	18	1943	c.1799G>A	c.(1798-1800)gGc>gAc	p.G600D	ARHGAP33_ENST00000314737.5_Missense_Mutation_p.G600D|ARHGAP33_ENST00000378944.5_Missense_Mutation_p.G464D			O14559	RHG33_HUMAN	Rho GTPase activating protein 33	600					cell communication|protein transport|signal transduction	intracellular	GTPase activator activity|phosphatidylinositol binding|protein binding			endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	37						CTGGGCCGGGGCCCCAGTGTC	0.677													17	28					0	0	1	0	0	A	36276168	G	A	36276168	3	1	81	1	0	0	0	0	1	0	0	0	879	1203	42	2	1869	2	ARHGAP33	19	36276168	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	4073	36276168	22852815	13570	17186											
KIRREL2	84063	broad.mit.edu	37	19	36357131	36357131	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:36357131G>T	ENST00000360202.5	+	15	2062	c.1864G>T	c.(1864-1866)Ggt>Tgt	p.G622C	KIRREL2_ENST00000347900.6_Intron|KIRREL2_ENST00000262625.7_Intron|KIRREL2_ENST00000592409.1_Missense_Mutation_p.G587C|NPHS1_ENST00000591817.1_Intron	NM_032123.5|NM_199180.2	NP_115499.4|NP_954649.2	Q6UWL6	KIRR2_HUMAN	kin of IRRE like 2 (Drosophila)	622					cell adhesion	integral to membrane|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	48	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CCCTGGAGGAGGTCTCTTCCT	0.602													6	58					8.12818e-05	8.94031e-05	1	1	0	T	36357131	G	T	36357131	3	4	81	1	0	0	0	0	1	0	0	0	8368	1000	35	4	1922	4	KIRREL2	19	36357131	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	80963	36357131	22771852	13571	17187											
APLP1	333	broad.mit.edu	37	19	36362885	36362885	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:36362885A>G	ENST00000221891.4	+	6	989	c.797A>G	c.(796-798)gAa>gGa	p.E266G	APLP1_ENST00000586861.1_Missense_Mutation_p.E260G|APLP1_ENST00000537454.2_Missense_Mutation_p.E227G	NM_001024807.1|NM_005166.3	NP_001019978.1|NP_005157.1	P51693	APLP1_HUMAN	amyloid beta (A4) precursor-like protein 1	266	Poly-Glu.				apoptosis|cell adhesion|cellular response to norepinephrine stimulus|endocytosis|negative regulation of cAMP biosynthetic process|nervous system development|organ morphogenesis	basement membrane|integral to membrane|perinuclear region of cytoplasm|plasma membrane	alpha-2A adrenergic receptor binding|alpha-2B adrenergic receptor binding|alpha-2C adrenergic receptor binding|heparin binding|identical protein binding|metal ion binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	33	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GCTGAAGAGGAAGAGGAAACG	0.597													10	144					0	0	1	0	0	G	36362885	A	G	36362885	3	3	81	1	0	0	0	0	1	0	0	0	775	246	9	3	819	3	APLP1	19	36362885	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	5754	36362885	22766098	13572	17188											
ALKBH6	84964	broad.mit.edu	37	19	36501867	36501867	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:36501867G>T	ENST00000486389.1	-	4	944	c.196C>A	c.(196-198)Ctc>Atc	p.L66I	ALKBH6_ENST00000485128.1_Missense_Mutation_p.L89I|AC002116.8_ENST00000473572.2_RNA|ALKBH6_ENST00000378875.3_Missense_Mutation_p.L117I|ALKBH6_ENST00000495116.2_Intron|ALKBH6_ENST00000252984.7_Missense_Mutation_p.L89I			Q3KRA9	ALKB6_HUMAN	alkB, alkylation repair homolog 6 (E. coli)	89						cytoplasm|nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|skin(1)	9	all_lung(56;1.35e-06)|Lung NSC(56;2.15e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			AAGAGGCTGAGGTTTGACACT	0.622													5	28					3.59834e-05	3.99423e-05	1	1	0	T	36501867	G	T	36501867	3	4	81	1	0	0	0	0	1	0	0	0	527	1000	35	4	463	4	ALKBH6	19	36501867	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	138982	36501867	22627116	13573	17189											
CLIP3	25999	broad.mit.edu	37	19	36508317	36508317	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:36508317A>G	ENST00000360535.4	-	12	1714	c.1487T>C	c.(1486-1488)gTt>gCt	p.V496A	CLIP3_ENST00000593074.1_Missense_Mutation_p.V496A|AC002116.7_ENST00000586962.1_RNA	NM_015526.2	NP_056341.1	Q96DZ5	CLIP3_HUMAN	CAP-GLY domain containing linker protein 3	496	GoLD.				chaperone-mediated protein transport|fat cell differentiation|membrane biogenesis|negative regulation of microtubule polymerization|peptidyl-L-cysteine S-palmitoylation|positive regulation of apoptosis|positive regulation of endocytosis|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose transport|positive regulation of protein phosphorylation	early endosome membrane|Golgi stack|membrane raft|microsome|plasma membrane|recycling endosome membrane|trans-Golgi network membrane	ganglioside binding|microtubule binding			cervix(1)|endometrium(6)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	23	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			TTTGGCTCCAACGCTGTCCCC	0.562													12	21					0	0	1	0	0	G	36508317	A	G	36508317	3	3	81	1	0	0	0	0	1	0	0	0	3557	43	2	3	168	3	CLIP3	19	36508317	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	6450	36508317	22620666	13574	17190	86	2									
CLIP3	25999	broad.mit.edu	37	19	36508319	36508319	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:36508319G>A	ENST00000360535.4	-	12	1712	c.1485C>T	c.(1483-1485)agC>agT	p.S495S	CLIP3_ENST00000593074.1_Silent_p.S495S|AC002116.7_ENST00000586962.1_RNA	NM_015526.2	NP_056341.1	Q96DZ5	CLIP3_HUMAN	CAP-GLY domain containing linker protein 3	495	GoLD.				chaperone-mediated protein transport|fat cell differentiation|membrane biogenesis|negative regulation of microtubule polymerization|peptidyl-L-cysteine S-palmitoylation|positive regulation of apoptosis|positive regulation of endocytosis|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose transport|positive regulation of protein phosphorylation	early endosome membrane|Golgi stack|membrane raft|microsome|plasma membrane|recycling endosome membrane|trans-Golgi network membrane	ganglioside binding|microtubule binding			cervix(1)|endometrium(6)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	23	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			TGGCTCCAACGCTGTCCCCGG	0.562													11	18					0	0	1	0	0	A	36508319	G	A	36508319	2	1	81	1	0	0	0	0	0	0	0	1	3557	1078	38	1		1	CLIP3	19	36508319	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2	36508319	22620664	13575	17191	86	2									
CLIP3	25999	broad.mit.edu	37	19	36509857	36509857	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:36509857G>A	ENST00000360535.4	-	9	1353	c.1126C>T	c.(1126-1128)Cgg>Tgg	p.R376W	CLIP3_ENST00000593074.1_Missense_Mutation_p.R376W|AC002116.7_ENST00000586962.1_RNA	NM_015526.2	NP_056341.1	Q96DZ5	CLIP3_HUMAN	CAP-GLY domain containing linker protein 3	376					chaperone-mediated protein transport|fat cell differentiation|membrane biogenesis|negative regulation of microtubule polymerization|peptidyl-L-cysteine S-palmitoylation|positive regulation of apoptosis|positive regulation of endocytosis|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose transport|positive regulation of protein phosphorylation	early endosome membrane|Golgi stack|membrane raft|microsome|plasma membrane|recycling endosome membrane|trans-Golgi network membrane	ganglioside binding|microtubule binding			cervix(1)|endometrium(6)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	23	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			CGGGGGGTCCGGGGTGTGGAG	0.617													30	40					0	0	1	0	0	A	36509857	G	A	36509857	3	1	81	1	0	0	0	0	1	0	0	0	3557	1115	39	1	541	1	CLIP3	19	36509857	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1538	36509857	22619126	13576	17192											
CLIP3	25999	broad.mit.edu	37	19	36515309	36515309	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:36515309C>T	ENST00000360535.4	-	7	1134	c.907G>A	c.(907-909)Gat>Aat	p.D303N	CLIP3_ENST00000593074.1_Missense_Mutation_p.D303N|AC002116.7_ENST00000586962.1_RNA	NM_015526.2	NP_056341.1	Q96DZ5	CLIP3_HUMAN	CAP-GLY domain containing linker protein 3	303					chaperone-mediated protein transport|fat cell differentiation|membrane biogenesis|negative regulation of microtubule polymerization|peptidyl-L-cysteine S-palmitoylation|positive regulation of apoptosis|positive regulation of endocytosis|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose transport|positive regulation of protein phosphorylation	early endosome membrane|Golgi stack|membrane raft|microsome|plasma membrane|recycling endosome membrane|trans-Golgi network membrane	ganglioside binding|microtubule binding			cervix(1)|endometrium(6)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	23	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			TTCTGGCCATCCAGCAGCACG	0.622													6	21					0	0	1	0	0	T	36515309	C	T	36515309	3	4	81	1	0	0	0	0	1	0	0	0	3557	855	30	2	768	2	CLIP3	19	36515309	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	5452	36515309	22613674	13577	17193											
WDR62	284403	broad.mit.edu	37	19	36594735	36594735	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:36594735C>T	ENST00000401500.2	+	30	4040	c.4005C>T	c.(4003-4005)agC>agT	p.S1335S	WDR62_ENST00000270301.7_Silent_p.S1330S	NM_001083961.1|NM_173636.4	NP_001077430.1|NP_775907.4	O43379	WDR62_HUMAN	WD repeat domain 62	1330					cerebral cortex development	nucleus				cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3)	43	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			TGGAAGAGAGCGCCCTGAGGC	0.672													28	41					0	0	1	0	0	T	36594735	C	T	36594735	2	4	81	1	0	0	0	0	0	0	0	1	17373	767	27	1		1	WDR62	19	36594735	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	79426	36594735	22534248	13578	17194											
CAPNS1	826	broad.mit.edu	37	19	36637211	36637211	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:36637211T>C	ENST00000246533.3	+	9	1316	c.718T>C	c.(718-720)Ttc>Ctc	p.F240L	CAPNS1_ENST00000587718.1_Missense_Mutation_p.F240L|CAPNS1_ENST00000590874.1_Missense_Mutation_p.F210L|CAPNS1_ENST00000589146.1_Missense_Mutation_p.F66L|AD001527.7_ENST00000604228.1_RNA|CAPNS1_ENST00000588815.1_Missense_Mutation_p.F240L|CAPNS1_ENST00000588780.1_Missense_Mutation_p.F250L	NM_001003962.1|NM_001749.2	NP_001003962.1|NP_001740.1	P04632	CPNS1_HUMAN	calpain, small subunit 1	240	EF-hand 5.				positive regulation of cell proliferation	cytoplasm|plasma membrane	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			cervix(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	5	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			GGACGCCATGTTCCGTGAGTG	0.507													67	98					0	0	1	0	0	C	36637211	T	C	36637211	3	2	81	1	0	0	0	0	1	0	0	0	2651	1725	60	3	748	3	CAPNS1	19	36637211	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	42476	36637211	22491772	13579	17195											
COX7A1	1346	broad.mit.edu	37	19	36642626	36642626	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:36642626G>A	ENST00000292907.3	-	2	508	c.47C>T	c.(46-48)tCc>tTc	p.S16F	COX7A1_ENST00000437291.2_5'UTR	NM_001864.2	NP_001855.1	P24310	CX7A1_HUMAN	cytochrome c oxidase subunit VIIa polypeptide 1 (muscle)	16					generation of precursor metabolites and energy	integral to membrane|mitochondrial respiratory chain	cytochrome-c oxidase activity|electron carrier activity			endometrium(2)|large_intestine(1)	3	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			CCGGGCGGTGGAGCTGAAGGA	0.692													5	4					0	0	1	0	0	A	36642626	G	A	36642626	3	1	81	1	0	0	0	0	1	0	0	0	3802	1174	41	2	204	2	COX7A1	19	36642626	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	5415	36642626	22486357	13580	17196											
ZNF565	147929	broad.mit.edu	37	19	36673579	36673579	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:36673579C>T	ENST00000355114.5	-	5	2135	c.1409G>A	c.(1408-1410)cGt>cAt	p.R470H	ZNF565_ENST00000392173.2_Missense_Mutation_p.R430H|ZNF565_ENST00000304116.5_Missense_Mutation_p.R430H			Q8N9K5	ZN565_HUMAN	zinc finger protein 565	430					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(4)|lung(4)|ovary(1)|skin(2)	11	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.206)			TTGTGAAACACGAATAAAGGC	0.428													24	29					0	0	1	0	0	T	36673579	C	T	36673579	3	4	81	1	0	0	0	0	1	0	0	0	18053	536	19	1	214	1	ZNF565	19	36673579	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	30953	36673579	22455404	13581	17197											
ZFP14	57677	broad.mit.edu	37	19	36831672	36831672	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:36831672G>A	ENST00000270001.7	-	5	1171	c.1056C>T	c.(1054-1056)tgC>tgT	p.C352C		NM_020917.2	NP_065968.1	Q9HCL3	ZFP14_HUMAN	ZFP14 zinc finger protein	352					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	26	Esophageal squamous(110;0.162)					TAAGTTGTTGGCATATTCTAA	0.393													30	46					0	0	1	0	0	A	36831672	G	A	36831672	2	1	81	1	0	0	0	0	0	0	0	1	17697	1195	42	2		2	ZFP14	19	36831672	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	158093	36831672	22297311	13582	17198											
ZFP14	57677	broad.mit.edu	37	19	36832369	36832369	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:36832369C>T	ENST00000270001.7	-	5	474	c.359G>A	c.(358-360)aGg>aAg	p.R120K		NM_020917.2	NP_065968.1	Q9HCL3	ZFP14_HUMAN	ZFP14 zinc finger protein	120					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	26	Esophageal squamous(110;0.162)					CCAATCATTCCTAAAAATGGA	0.343													46	115					0	0	1	0	0	T	36832369	C	T	36832369	3	4	81	1	0	0	0	0	1	0	0	0	17697	681	24	2	1246	2	ZFP14	19	36832369	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	697	36832369	22296614	13583	17199											
ZFP82	284406	broad.mit.edu	37	19	36884446	36884446	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:36884446G>A	ENST00000392161.3	-	5	1038	c.796C>T	c.(796-798)Cga>Tga	p.R266*	ZFP82_ENST00000392171.1_Nonsense_Mutation_p.R266*	NM_133466.2	NP_597723.1	Q8N141	ZFP82_HUMAN	ZFP82 zinc finger protein	266					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						AGTTGTCCTCGTACCCTAAAA	0.433													53	83					0	0	1	0	0	A	36884446	G	A	36884446	4	1	81	1	0	0	0	0	0	1	0	0	17711	1153	40	1	806	1	ZFP82	19	36884446	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	52077	36884446	22244537	13584	17200											
ZNF566	84924	broad.mit.edu	37	19	36940060	36940060	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:36940060C>A	ENST00000454319.1	-	5	1213	c.1079G>T	c.(1078-1080)aGa>aTa	p.R360I	ZNF566_ENST00000493391.1_Missense_Mutation_p.R255I|ZNF566_ENST00000424129.2_Missense_Mutation_p.R359I|ZNF566_ENST00000434377.2_Missense_Mutation_p.R359I|ZNF566_ENST00000392170.2_Missense_Mutation_p.R360I	NM_001145343.1|NM_001145344.1|NM_001145345.1	NP_001138815.1|NP_001138816.1|NP_001138817.1	Q969W8	ZN566_HUMAN	zinc finger protein 566	359					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24	Esophageal squamous(110;0.162)					AGTATGAATTCTCTGATGTCT	0.378													4	36					0.00024832	0.000269806	1	1	0	A	36940060	C	A	36940060	3	1	81	1	0	0	0	0	1	0	0	0	18054	913	32	4	184	4	ZNF566	19	36940060	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	55614	36940060	22188923	13585	17201											
ZNF566	84924	broad.mit.edu	37	19	36940119	36940119	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:36940119G>A	ENST00000454319.1	-	5	1154	c.1020C>T	c.(1018-1020)taC>taT	p.Y340Y	ZNF566_ENST00000493391.1_Silent_p.Y235Y|ZNF566_ENST00000424129.2_Silent_p.Y339Y|ZNF566_ENST00000434377.2_Silent_p.Y339Y|ZNF566_ENST00000392170.2_Silent_p.Y340Y	NM_001145343.1|NM_001145344.1|NM_001145345.1	NP_001138815.1|NP_001138816.1|NP_001138817.1	Q969W8	ZN566_HUMAN	zinc finger protein 566	339					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24	Esophageal squamous(110;0.162)					CCTTACATTCGTAAGGTTTCT	0.398													16	27					0	0	1	0	0	A	36940119	G	A	36940119	2	1	81	1	0	0	0	0	0	0	0	1	18054	1140	40	1		1	ZNF566	19	36940119	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	59	36940119	22188864	13586	17202											
ZNF529	57711	broad.mit.edu	37	19	37038281	37038281	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:37038281G>T	ENST00000334116.7	-	6	1474	c.864C>A	c.(862-864)ccC>ccA	p.P288P	ZNF529_ENST00000591340.1_Silent_p.P393P	NM_001145650.1	NP_001139122.1	Q6P280	ZN529_HUMAN	zinc finger protein 529	360					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)	1	Esophageal squamous(110;0.198)					TGCATTCATAGGGTTTCTTAC	0.388													9	148					1.12685e-05	1.27052e-05	1	1	0	T	37038281	G	T	37038281	2	4	81	1	0	0	0	0	0	0	0	1	18027	987	35	4		4	ZNF529	19	37038281	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	98162	37038281	22090702	13587	17203											
ZNF529	57711	broad.mit.edu	37	19	37038361	37038361	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:37038361C>T	ENST00000334116.7	-	6	1394	c.784G>A	c.(784-786)Gca>Aca	p.A262T	ZNF529_ENST00000591340.1_Missense_Mutation_p.A367T	NM_001145650.1	NP_001139122.1	Q6P280	ZN529_HUMAN	zinc finger protein 529	334					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)	1	Esophageal squamous(110;0.198)					TCCTTACATGCATAAGGTTTC	0.403													5	97					0	0	1	0	0	T	37038361	C	T	37038361	3	4	81	1	0	0	0	0	1	0	0	0	18027	710	25	2	596	2	ZNF529	19	37038361	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	80	37038361	22090622	13588	17204											
ZNF529	57711	broad.mit.edu	37	19	37038801	37038801	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:37038801A>C	ENST00000334116.7	-	6	954	c.344T>G	c.(343-345)aTt>aGt	p.I115S	ZNF529_ENST00000591340.1_Missense_Mutation_p.I220S	NM_001145650.1	NP_001139122.1	Q6P280	ZN529_HUMAN	zinc finger protein 529	187					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)	1	Esophageal squamous(110;0.198)					ACCAGTATGAATATTCAGTTG	0.294													10	24					0	0	1	0	0	C	37038801	A	C	37038801	3	2	81	1	0	0	0	0	1	0	0	0	18027	101	4	4	1036	4	ZNF529	19	37038801	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	440	37038801	22090182	13589	17205											
ZNF567	163081	broad.mit.edu	37	19	37210117	37210117	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:37210117G>A	ENST00000585696.1	+	3	1628	c.398G>A	c.(397-399)gGa>gAa	p.G133E	ZNF567_ENST00000588311.1_Missense_Mutation_p.G133E|ZNF567_ENST00000392163.2_Missense_Mutation_p.G133E|ZNF567_ENST00000536254.2_Missense_Mutation_p.G164E|ZNF850_ENST00000589390.1_Intron|ZNF567_ENST00000360729.4_Missense_Mutation_p.G133E			Q8N184	ZN567_HUMAN	zinc finger protein 567	164					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			GAGTATAATGGATATGGGAAA	0.353													23	31					0	0	1	0	0	A	37210117	G	A	37210117	3	1	81	1	0	0	0	0	1	0	0	0	18055	1174	41	2	408	2	ZNF567	19	37210117	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	171316	37210117	21918866	13590	17206											
ZNF567	163081	broad.mit.edu	37	19	37211222	37211222	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:37211222C>A	ENST00000585696.1	+	3	2733	c.1503C>A	c.(1501-1503)ccC>ccA	p.P501P	ZNF567_ENST00000588311.1_Silent_p.P501P|ZNF567_ENST00000392163.2_Silent_p.P501P|ZNF567_ENST00000536254.2_Silent_p.P532P|ZNF850_ENST00000589390.1_Intron|ZNF567_ENST00000360729.4_Silent_p.P501P			Q8N184	ZN567_HUMAN	zinc finger protein 567	532					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			GGGAGAAACCCTATGTTTGTA	0.393													7	68					0.000157383	0.000171784	1	1	0	A	37211222	C	A	37211222	2	1	81	1	0	0	0	0	0	0	0	1	18055	668	24	4		4	ZNF567	19	37211222	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1105	37211222	21917761	13591	17207											
ZNF345	25850	broad.mit.edu	37	19	37368419	37368419	+	Silent	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:37368419T>G	ENST00000529555.1	+	2	1475	c.687T>G	c.(685-687)ccT>ccG	p.P229P	ZNF345_ENST00000432005.2_Intron|ZNF345_ENST00000420450.1_Silent_p.P229P|ZNF345_ENST00000589046.1_Silent_p.P229P|ZNF345_ENST00000526123.1_Intron			Q14585	ZN345_HUMAN	zinc finger protein 345	229					negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|ovary(2)|prostate(1)	24	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GTGAGAAACCTTATGAATGCA	0.418													28	46					0	0	1	0	0	G	37368419	T	G	37368419	2	3	81	1	0	0	0	0	0	0	0	1	17916	1596	56	5		5	ZNF345	19	37368419	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	157197	37368419	21760564	13592	17208											
ZNF829	374899	broad.mit.edu	37	19	37383201	37383201	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:37383201G>T	ENST00000520965.1	-	6	801	c.735C>A	c.(733-735)acC>acA	p.T245T	ZNF345_ENST00000432005.2_Intron|ZNF829_ENST00000391711.3_Silent_p.T164T|ZNF345_ENST00000526123.1_Intron	NM_001171979.1	NP_001165450.1	Q3KNS6	ZN829_HUMAN	zinc finger protein 829	164					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	29	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TTTGATTAAAGGTCTTTCCAC	0.363													9	18					1.12685e-05	1.27052e-05	1	1	0	T	37383201	G	T	37383201	2	4	81	1	0	0	0	0	0	0	0	1	18229	987	35	4		4	ZNF829	19	37383201	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	14782	37383201	21745782	13593	17209											
ZNF585A	199704	broad.mit.edu	37	19	37643466	37643466	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:37643466delT	ENST00000356958.4	-	5	1593	c.1335delA	c.(1333-1335)aaafs	p.K445fs	ZNF585A_ENST00000392157.2_Frame_Shift_Del_p.K390fs|ZNF585A_ENST00000355533.2_Intron|ZNF585A_ENST00000292841.5_Frame_Shift_Del_p.K390fs|ZNF585A_ENST00000588723.1_Intron			Q6P3V2	Z585A_HUMAN	zinc finger protein 585A	445					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AGGTAAACAATTTCCCACAGT	0.423													13	153	---	---	---	---						-	37643466	T	-	37643466	7	5	81	1	0	1	0	1	0	0	0	0	18074	1490	52	0	978	0	ZNF585A	19	37643466	Frame_Shift_Del	DEL	T	TCGA-DU-6392-01A-11D-1705-08	260265	37643466	21485517	13594	17210											
ZNF585A	199704	broad.mit.edu	37	19	37643484	37643484	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:37643484T>G	ENST00000356958.4	-	5	1575	c.1317A>C	c.(1315-1317)aaA>aaC	p.K439N	ZNF585A_ENST00000588723.1_Intron|ZNF585A_ENST00000392157.2_Missense_Mutation_p.K384N|ZNF585A_ENST00000292841.5_Missense_Mutation_p.K384N|ZNF585A_ENST00000355533.2_Intron			Q6P3V2	Z585A_HUMAN	zinc finger protein 585A	439					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AGTGACCACATTTATGAGGTT	0.393													7	137					0	0	1	0	0	G	37643484	T	G	37643484	3	3	81	1	0	0	0	0	1	0	0	0	18074	1490	52	4	996	4	ZNF585A	19	37643484	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	18	37643484	21485499	13595	17211											
ZNF585A	199704	broad.mit.edu	37	19	37643829	37643829	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:37643829C>A	ENST00000356958.4	-	5	1230	c.972G>T	c.(970-972)aaG>aaT	p.K324N	ZNF585A_ENST00000588723.1_Intron|ZNF585A_ENST00000392157.2_Missense_Mutation_p.K269N|ZNF585A_ENST00000292841.5_Missense_Mutation_p.K269N|ZNF585A_ENST00000355533.2_Missense_Mutation_p.K269N			Q6P3V2	Z585A_HUMAN	zinc finger protein 585A	324					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			ATATATAGGGCTTCACTCTTG	0.388													13	168					3.45872e-05	3.85959e-05	1	1	0	A	37643829	C	A	37643829	3	1	81	1	0	0	0	0	1	0	0	0	18074	796	28	4	1341	4	ZNF585A	19	37643829	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	345	37643829	21485154	13596	17212											
ZNF585A	199704	broad.mit.edu	37	19	37644027	37644027	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:37644027C>T	ENST00000356958.4	-	5	1032	c.774G>A	c.(772-774)aaG>aaA	p.K258K	ZNF585A_ENST00000588723.1_Intron|ZNF585A_ENST00000392157.2_Silent_p.K203K|ZNF585A_ENST00000292841.5_Silent_p.K203K|ZNF585A_ENST00000355533.2_Silent_p.K203K			Q6P3V2	Z585A_HUMAN	zinc finger protein 585A	258					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TCTGATGCATCTTGAGTGTGG	0.428													63	83					0	0	1	0	0	T	37644027	C	T	37644027	2	4	81	1	0	0	0	0	0	0	0	1	18074	912	32	2		2	ZNF585A	19	37644027	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	198	37644027	21484956	13597	17213											
ZNF585B	92285	broad.mit.edu	37	19	37678054	37678055	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:37678054_37678055insT	ENST00000532828.2	-	5	635_636	c.384_385insA	c.(382-387)aaatccfs	p.S129fs	ZNF585B_ENST00000527838.1_Frame_Shift_Ins_p.S129fs|ZNF585B_ENST00000531805.1_Frame_Shift_Ins_p.S74fs|CTC-454I21.3_ENST00000585860.2_Intron	NM_152279.3	NP_689492.3	Q52M93	Z585B_HUMAN	zinc finger protein 585B	129					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CACTCATAGGATTTTTCCCCAG	0.371													36	54	---	---	---	---						T	37678055	-	T	37678054	7	5	81	1	0	1	1	0	0	0	0	0	18075	333	12	0	1928	0	ZNF585B	19	37678054	Frame_Shift_Ins	INS	-	TCGA-DU-6392-01A-11D-1705-08	34027	37678054	21450929	13598	17214											
ZNF383	163087	broad.mit.edu	37	19	37733454	37733454	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:37733454G>T	ENST00000589413.1	+	8	899	c.316G>T	c.(316-318)Gga>Tga	p.G106*	ZNF383_ENST00000352998.3_Nonsense_Mutation_p.G106*|ZNF383_ENST00000590503.1_Nonsense_Mutation_p.G106*			Q8NA42	ZN383_HUMAN	zinc finger protein 383	106					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)	15			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GGAGATAATGGGACTTACAAA	0.363													32	90					6.02846e-25	7.96875e-25	1	1	0	T	37733454	G	T	37733454	4	4	81	1	0	0	0	0	0	1	0	0	17931	1233	43	5	330	5	ZNF383	19	37733454	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	55400	37733454	21395529	13599	17215											
ZNF383	163087	broad.mit.edu	37	19	37734511	37734511	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:37734511C>T	ENST00000589413.1	+	8	1956	c.1373C>T	c.(1372-1374)gCt>gTt	p.A458V	ZNF383_ENST00000352998.3_Missense_Mutation_p.A458V|ZNF383_ENST00000590503.1_Missense_Mutation_p.A458V			Q8NA42	ZN383_HUMAN	zinc finger protein 383	458					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)	15			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TGTGGGAAGGCTTTTAGTAGT	0.368													36	47					0	0	1	0	0	T	37734511	C	T	37734511	3	4	81	1	0	0	0	0	1	0	0	0	17931	797	28	2	1387	2	ZNF383	19	37734511	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1057	37734511	21394472	13600	17216											
HKR1	284459	broad.mit.edu	37	19	37853998	37853998	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:37853998C>T	ENST00000591471.1	+	9	2123	c.482C>T	c.(481-483)aCa>aTa	p.T161I	HKR1_ENST00000591134.1_Intron|HKR1_ENST00000392153.3_Missense_Mutation_p.T415I|HKR1_ENST00000544914.1_Missense_Mutation_p.T161I|HKR1_ENST00000324411.4_Missense_Mutation_p.T434I|HKR1_ENST00000589392.1_Missense_Mutation_p.T416I|HKR1_ENST00000541583.2_Missense_Mutation_p.T373I			P10072	HKR1_HUMAN	HKR1, GLI-Kruppel zinc finger family member	434					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CACTTAAGGACACACACAGGA	0.473													15	19					0	0	1	0	0	T	37853998	C	T	37853998	3	4	81	1	0	0	0	0	1	0	0	0	7235	478	17	2	1315	2	HKR1	19	37853998	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	119487	37853998	21274985	13601	17217											
HKR1	284459	broad.mit.edu	37	19	37854500	37854500	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:37854500C>T	ENST00000591471.1	+	9	2625	c.984C>T	c.(982-984)caC>caT	p.H328H	HKR1_ENST00000591134.1_Intron|HKR1_ENST00000392153.3_Silent_p.H582H|HKR1_ENST00000544914.1_Silent_p.H328H|HKR1_ENST00000324411.4_Silent_p.H601H|HKR1_ENST00000589392.1_Silent_p.H583H|HKR1_ENST00000541583.2_Silent_p.H540H			P10072	HKR1_HUMAN	HKR1, GLI-Kruppel zinc finger family member	601					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AGAGAGCACACGCAGGGGGGA	0.532													24	39					0	0	1	0	0	T	37854500	C	T	37854500	2	4	81	1	0	0	0	0	0	0	0	1	7235	535	19	1		1	HKR1	19	37854500	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	502	37854500	21274483	13602	17218											
ZNF569	148266	broad.mit.edu	37	19	37904943	37904943	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:37904943C>A	ENST00000316950.6	-	6	1174	c.617G>T	c.(616-618)aGa>aTa	p.R206I	ZNF569_ENST00000392149.2_Missense_Mutation_p.R206I|ZNF569_ENST00000392150.2_Missense_Mutation_p.R47I	NM_152484.2	NP_689697.2	Q5MCW4	ZN569_HUMAN	zinc finger protein 569	206					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|endometrium(4)|large_intestine(16)|lung(11)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AGTATGAATTCTCAGATGTCT	0.368													29	46					3.99451e-17	5.14651e-17	1	1	0	A	37904943	C	A	37904943	3	1	81	1	0	0	0	0	1	0	0	0	18057	913	32	4	1447	4	ZNF569	19	37904943	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	50443	37904943	21224040	13603	17219											
ZNF569	148266	broad.mit.edu	37	19	37905279	37905279	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:37905279C>A	ENST00000316950.6	-	6	838	c.281G>T	c.(280-282)aGa>aTa	p.R94I	ZNF569_ENST00000392149.2_Missense_Mutation_p.R94I|ZNF569_ENST00000592490.1_Missense_Mutation_p.D20Y|ZNF569_ENST00000392150.2_5'UTR	NM_152484.2	NP_689697.2	Q5MCW4	ZN569_HUMAN	zinc finger protein 569	94					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|endometrium(4)|large_intestine(16)|lung(11)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TCTCAAAAGTCTGTCCTGGTT	0.313													22	51					6.44725e-10	7.84582e-10	1	1	0	A	37905279	C	A	37905279	3	1	81	1	0	0	0	0	1	0	0	0	18057	913	32	4	1783	4	ZNF569	19	37905279	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	336	37905279	21223704	13604	17220											
ZNF571	51276	broad.mit.edu	37	19	38055937	38055937	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:38055937G>A	ENST00000328550.2	-	4	1492	c.1393C>T	c.(1393-1395)Cat>Tat	p.H465Y	ZNF571-AS1_ENST00000589802.1_RNA|ZNF571-AS1_ENST00000586013.1_RNA|ZNF571-AS1_ENST00000592392.1_RNA|ZNF571-AS1_ENST00000587121.1_RNA|ZNF571_ENST00000451802.2_Missense_Mutation_p.H465Y|ZNF571-AS1_ENST00000590838.1_RNA|ZNF571_ENST00000358744.3_Missense_Mutation_p.H465Y|ZNF571-AS1_ENST00000586139.1_RNA|ZNF571_ENST00000590751.1_Intron|ZNF571_ENST00000593133.1_Missense_Mutation_p.H465Y|ZNF571-AS1_ENST00000589750.1_RNA|ZNF571-AS1_ENST00000591430.1_RNA|ZNF540_ENST00000592533.1_Intron|ZNF571-AS1_ENST00000585578.1_RNA			Q7Z3V5	ZN571_HUMAN	zinc finger protein 571	465					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	25			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			ATTTTCTCATGTTGAGTAAGA	0.363													5	85					0	0	1	0	0	A	38055937	G	A	38055937	3	1	81	1	0	0	0	0	1	0	0	0	18060	1377	48	2	440	2	ZNF571	19	38055937	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	150658	38055937	21073046	13605	17221											
ZNF540	163255	broad.mit.edu	37	19	38090600	38090600	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:38090600G>T	ENST00000592533.1	+	3	415	c.83G>T	c.(82-84)aGg>aTg	p.R28M	ZNF540_ENST00000587220.1_3'UTR|ZNF540_ENST00000586792.1_Intron|ZNF540_ENST00000316433.4_Missense_Mutation_p.R28M|ZNF540_ENST00000343599.5_Missense_Mutation_p.R28M|ZNF540_ENST00000589117.1_Missense_Mutation_p.R28M	NM_152606.4	NP_689819.1			zinc finger protein 540											breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(13)|lung(8)|skin(1)	28			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			ACTACCCAGAGGAAATTGTAC	0.413													11	86					3.07112e-06	3.5041e-06	1	1	0	T	38090600	G	T	38090600	3	4	81	1	0	0	0	0	1	0	0	0	18032	1000	35	4	89	4	ZNF540	19	38090600	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	34663	38090600	21038383	13606	17222											
ZNF540	163255	broad.mit.edu	37	19	38103579	38103579	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:38103579C>A	ENST00000592533.1	+	5	1730	c.1398C>A	c.(1396-1398)ccC>ccA	p.P466P	ZNF540_ENST00000316433.4_Silent_p.P466P|ZNF540_ENST00000343599.5_Silent_p.P466P|ZNF540_ENST00000589117.1_Silent_p.P434P	NM_152606.4	NP_689819.1			zinc finger protein 540											breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(13)|lung(8)|skin(1)	28			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GTGTGAAGCCCTACGAATGTA	0.403													6	63					0.217242	0.218703	1	1	0	A	38103579	C	A	38103579	2	1	81	1	0	0	0	0	0	0	0	1	18032	668	24	4		4	ZNF540	19	38103579	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	12979	38103579	21025404	13607	17223											
ZFP30	22835	broad.mit.edu	37	19	38127090	38127090	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:38127090C>T	ENST00000351218.2	-	6	909	c.352G>A	c.(352-354)Gaa>Aaa	p.E118K	ZFP30_ENST00000392144.1_Missense_Mutation_p.E118K|ZFP30_ENST00000514101.2_Missense_Mutation_p.E118K|ZFP30_ENST00000589018.1_Intron	NM_014898.2	NP_055713.1	Q9Y2G7	ZFP30_HUMAN	ZFP30 zinc finger protein	118					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	21			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TGAGGACTTTCTTGTTCTTCA	0.358													34	39					0	0	1	0	0	T	38127090	C	T	38127090	3	4	81	1	0	0	0	0	1	0	0	0	17702	922	32	2	1211	2	ZFP30	19	38127090	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	23511	38127090	21001893	13608	17224											
ZFP30	22835	broad.mit.edu	37	19	38135552	38135552	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:38135552C>A	ENST00000351218.2	-	4	652	c.95G>T	c.(94-96)aGa>aTa	p.R32I	ZFP30_ENST00000392144.1_Missense_Mutation_p.R32I|ZFP30_ENST00000514101.2_Missense_Mutation_p.R32I|ZFP30_ENST00000589018.1_Missense_Mutation_p.R32I	NM_014898.2	NP_055713.1	Q9Y2G7	ZFP30_HUMAN	ZFP30 zinc finger protein	32	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	21			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TATCACATCTCTGTACAAATT	0.403													6	90					0.00116845	0.00124301	1	1	0	A	38135552	C	A	38135552	3	1	81	1	0	0	0	0	1	0	0	0	17702	913	32	4	1476	4	ZFP30	19	38135552	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	8462	38135552	20993431	13609	17225											
ZNF607	84775	broad.mit.edu	37	19	38190099	38190099	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:38190099G>A	ENST00000355202.4	-	5	1528	c.933C>T	c.(931-933)tgC>tgT	p.C311C	CTD-2528L19.4_ENST00000586606.2_Intron|ZNF607_ENST00000395835.3_Silent_p.C310C	NM_032689.4	NP_116078.4	Q96SK3	ZN607_HUMAN	zinc finger protein 607	311					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|lung(8)|urinary_tract(1)	27			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)			CGCATTCCTTGCATTCATAGG	0.413													59	86					0	0	1	0	0	A	38190099	G	A	38190099	2	1	81	1	0	0	0	0	0	0	0	1	18090	1311	46	2		2	ZNF607	19	38190099	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	54547	38190099	20938884	13610	17226											
ZNF573	126231	broad.mit.edu	37	19	38229677	38229677	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:38229677G>A	ENST00000339503.4	-	8	2041	c.1540C>T	c.(1540-1542)Cat>Tat	p.H514Y	ZNF573_ENST00000590414.2_Missense_Mutation_p.H572Y|ZNF573_ENST00000536220.1_Missense_Mutation_p.H484Y|ZNF573_ENST00000357309.3_Missense_Mutation_p.H484Y|ZNF573_ENST00000392138.1_Missense_Mutation_p.H485Y	NM_152360.3	NP_689573.3	Q86YE8	ZN573_HUMAN	zinc finger protein 573	552					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|cervix(3)|endometrium(2)|large_intestine(8)|liver(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)|Lung(45;0.0813)|LUSC - Lung squamous cell carcinoma(53;0.146)			ATGCTCTGATGTGCAGTAAGG	0.358													9	91					0	0	1	0	0	A	38229677	G	A	38229677	3	1	81	1	0	0	0	0	1	0	0	0	18062	1377	48	2	287	2	ZNF573	19	38229677	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	39578	38229677	20899306	13611	17227											
ZNF573	126231	broad.mit.edu	37	19	38230584	38230584	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:38230584A>G	ENST00000339503.4	-	8	1134	c.633T>C	c.(631-633)acT>acC	p.T211T	ZNF573_ENST00000590414.2_Silent_p.T269T|ZNF573_ENST00000536220.1_Silent_p.T181T|ZNF573_ENST00000357309.3_Silent_p.T181T|ZNF573_ENST00000392138.1_Silent_p.T182T	NM_152360.3	NP_689573.3	Q86YE8	ZN573_HUMAN	zinc finger protein 573	249					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|cervix(3)|endometrium(2)|large_intestine(8)|liver(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)|Lung(45;0.0813)|LUSC - Lung squamous cell carcinoma(53;0.146)			GTTTTTCGCCAGTATGAACTC	0.428													15	116					0	0	1	0	0	G	38230584	A	G	38230584	2	3	81	1	0	0	0	0	0	0	0	1	18062	175	7	3		3	ZNF573	19	38230584	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	907	38230584	20898399	13612	17228											
SIPA1L3	23094	broad.mit.edu	37	19	38610010	38610010	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:38610010T>C	ENST00000222345.6	+	9	2865	c.2356T>C	c.(2356-2358)Ttc>Ctc	p.F786L		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	786	Rap-GAP.				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			TGGAACCACATTCCGCAAATC	0.552													28	45					0	0	1	0	0	C	38610010	T	C	38610010	3	2	81	1	0	0	0	0	1	0	0	0	14386	1493	52	3	2382	3	SIPA1L3	19	38610010	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	379426	38610010	20518973	13613	17229											
DPF1	8193	broad.mit.edu	37	19	38703001	38703001	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:38703001C>T	ENST00000416611.1	-	11	1168	c.1045G>A	c.(1045-1047)Gac>Aac	p.D349N	DPF1_ENST00000355526.4_Splice_Site_p.D365N|DPF1_ENST00000420980.2_Missense_Mutation_p.D331N|DPF1_ENST00000414789.1_Splice_Site_p.D283N|DPF1_ENST00000456296.1_Splice_Site_p.D339N|DPF1_ENST00000412732.1_Splice_Site_p.D283N			Q92782	DPF1_HUMAN	D4, zinc and double PHD fingers family 1	331					induction of apoptosis|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nBAF complex	zinc ion binding			large_intestine(1)|lung(4)|ovary(1)|skin(1)	7	all_cancers(60;1.24e-06)		Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			AGCAGCTGGTCCTGGGGGGTG	0.687													8	7					0	0	1	0	0	T	38703001	C	T	38703001	3	4	81	1	0	0	0	0	1	0	0	0	4743	869	30	2	159	2	DPF1	19	38703001	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	92991	38703001	20425982	13614	17230											
DPF1	8193	broad.mit.edu	37	19	38713067	38713067	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:38713067G>A	ENST00000416611.1	-	3	354	c.231C>T	c.(229-231)cgC>cgT	p.R77R	DPF1_ENST00000355526.4_Silent_p.R103R|DPF1_ENST00000420980.2_Silent_p.R103R|DPF1_ENST00000414789.1_Silent_p.R21R|DPF1_ENST00000456296.1_Silent_p.R77R|DPF1_ENST00000412732.1_Silent_p.R21R			Q92782	DPF1_HUMAN	D4, zinc and double PHD fingers family 1	103					induction of apoptosis|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nBAF complex	zinc ion binding			large_intestine(1)|lung(4)|ovary(1)|skin(1)	7	all_cancers(60;1.24e-06)		Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			TCCTCCAACAGCGGGCGGGGT	0.692													63	86					0	0	1	0	0	A	38713067	G	A	38713067	2	1	81	1	0	0	0	0	0	0	0	1	4743	958	34	2		2	DPF1	19	38713067	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	10066	38713067	20415916	13615	17231											
CATSPERG	57828	broad.mit.edu	37	19	38861280	38861280	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:38861280G>A	ENST00000409235.3	+	29	3443	c.3328G>A	c.(3328-3330)Gcc>Acc	p.A1110T	CATSPERG_ENST00000215069.4_3'UTR|CATSPERG_ENST00000410018.1_Missense_Mutation_p.A1070T	NM_021185.4	NP_067008.3	Q6ZRH7	CTSRG_HUMAN	catsper channel auxiliary subunit gamma	1110					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2)	40						CAACCTCATTGCCTCAGAATC	0.547													34	44					0	0	1	0	0	A	38861280	G	A	38861280	3	1	81	1	0	0	0	0	1	0	0	0	2710	1319	46	2	3438	2	CATSPERG	19	38861280	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	148213	38861280	20267703	13616	17232											
FAM98C	147965	broad.mit.edu	37	19	38897713	38897713	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:38897713A>T	ENST00000252530.5	+	7	933	c.914A>T	c.(913-915)aAc>aTc	p.N305I	FAM98C_ENST00000343358.7_Intron|FAM98C_ENST00000588262.1_Missense_Mutation_p.Q171H	NM_174905.3	NP_777565.3	Q17RN3	FA98C_HUMAN	family with sequence similarity 98, member C	305										endometrium(2)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(60;3.95e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			TGTGCCATCAACAAGGTGGGC	0.597													6	96					0	0	1	0	0	T	38897713	A	T	38897713	3	4	81	1	0	0	0	0	1	0	0	0	5691	43	2	5	940	5	FAM98C	19	38897713	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	36433	38897713	20231270	13617	17233											
FAM98C	147965	broad.mit.edu	37	19	38899416	38899416	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:38899416G>C	ENST00000252530.5	+	8	963	c.944G>C	c.(943-945)cGg>cCg	p.R315P	FAM98C_ENST00000343358.7_Missense_Mutation_p.R233P|FAM98C_ENST00000588262.1_Silent_p.P181P	NM_174905.3	NP_777565.3	Q17RN3	FA98C_HUMAN	family with sequence similarity 98, member C	315								p.R315L(1)		endometrium(2)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(60;3.95e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			GTTCCAGACCGGGGGGGCCGC	0.562													9	61					0	0	1	0	0	C	38899416	G	C	38899416	3	2	81	1	0	0	0	0	1	0	0	0	5691	1116	39	5	974	5	FAM98C	19	38899416	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1703	38899416	20229567	13618	17234											
RYR1	6261	broad.mit.edu	37	19	38946361	38946361	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:38946361C>T	ENST00000355481.4	+	16	1892	c.1761C>T	c.(1759-1761)tcC>tcT	p.S587S	RYR1_ENST00000360985.3_Silent_p.S587S|RYR1_ENST00000359596.3_Silent_p.S587S	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	587	B30.2/SPRY 1.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	CCATCATCTCCCTCCTGGACA	0.572													8	23					0	0	1	0	0	T	38946361	C	T	38946361	2	4	81	1	0	0	0	0	0	0	0	1	13820	610	22	2		2	RYR1	19	38946361	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	46945	38946361	20182622	13619	17235											
RYR1	6261	broad.mit.edu	37	19	38951154	38951155	+	Frame_Shift_Ins	INS	-	-	A	rs140686309	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:38951154_38951155insA	ENST00000355481.4	+	20	2631_2632	c.2500_2501insA	c.(2500-2502)cggfs	p.R834fs	RYR1_ENST00000360985.3_Frame_Shift_Ins_p.R834fs|RYR1_ENST00000359596.3_Frame_Shift_Ins_p.R834fs	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	834					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GGAGGGGCCCCGGGGGCCTCAC	0.639													18	124	---	---	---	---						A	38951155	-	A	38951154	7	5	81	1	0	1	1	0	0	0	0	0	13820	643	23	0	2578	0	RYR1	19	38951154	Frame_Shift_Ins	INS	-	TCGA-DU-6392-01A-11D-1705-08	4793	38951154	20177829	13620	17236											
RYR1	6261	broad.mit.edu	37	19	39023358	39023358	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:39023358G>T	ENST00000355481.4	+	77	11357	c.11226G>T	c.(11224-11226)gaG>gaT	p.E3742D	RYR1_ENST00000360985.3_Missense_Mutation_p.E3747D|RYR1_ENST00000359596.3_Missense_Mutation_p.E3747D	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	3747					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	CTGAAGAGGAGGTTGAGGTCT	0.587													3	29					0.00024832	0.000269806	1	1	0	T	39023358	G	T	39023358	3	4	81	1	0	0	0	0	1	0	0	0	13820	991	35	4	11551	4	RYR1	19	39023358	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	72204	39023358	20105625	13621	17237											
MAP4K1	11184	broad.mit.edu	37	19	39078452	39078452	+	Nonstop_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:39078452A>G	ENST00000591517.1	-	32	2528	c.2500T>C	c.(2500-2502)Tag>Cag	p.*834Q	MAP4K1_ENST00000396857.2_Missense_Mutation_p.V801A|MAP4K1_ENST00000586296.1_Missense_Mutation_p.V375A|MAP4K1_ENST00000589130.1_Missense_Mutation_p.V797A	NM_007181.4	NP_009112.1	Q92918	M4K1_HUMAN	mitogen-activated protein kinase kinase kinase kinase 1	0					activation of JUN kinase activity|peptidyl-serine phosphorylation		ATP binding|MAP kinase kinase kinase kinase activity|protein binding|small GTPase regulator activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(24)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	44	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CTCCACCACTACAGGCCTGTG	0.473													3	36					0	0	1	0	0	G	39078452	A	G	39078452	4	3	81	1	0	0	0	0	0	0	0	0	9309	404	14	3	67	3	MAP4K1	19	39078452	Nonstop_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	55094	39078452	20050531	13622	17238											
MAP4K1	11184	broad.mit.edu	37	19	39108527	39108527	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:39108527G>A	ENST00000591517.1	-	1	37	c.9C>T	c.(7-9)gtC>gtT	p.V3V	MAP4K1_ENST00000396857.2_Silent_p.V3V|MAP4K1_ENST00000586296.1_Silent_p.V3V|MAP4K1_ENST00000589130.1_Intron	NM_007181.4	NP_009112.1	Q92918	M4K1_HUMAN	mitogen-activated protein kinase kinase kinase kinase 1	3					activation of JUN kinase activity|peptidyl-serine phosphorylation		ATP binding|MAP kinase kinase kinase kinase activity|protein binding|small GTPase regulator activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(24)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	44	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CAGGGTCCACGACGTCCATCC	0.642													26	38					0	0	1	0	0	A	39108527	G	A	39108527	2	1	81	1	0	0	0	0	0	0	0	1	9309	1045	37	1		1	MAP4K1	19	39108527	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	30075	39108527	20020456	13623	17239											
ACTN4	81	broad.mit.edu	37	19	39214701	39214701	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:39214701C>A	ENST00000252699.2	+	14	1752	c.1676C>A	c.(1675-1677)aCc>aAc	p.T559N	ACTN4_ENST00000424234.2_Missense_Mutation_p.T169N|ACTN4_ENST00000390009.3_Missense_Mutation_p.T340N	NM_004924.4	NP_004915.2	O43707	ACTN4_HUMAN	actinin, alpha 4	559					platelet activation|platelet degranulation|positive regulation of cellular component movement|positive regulation of sodium:hydrogen antiporter activity|protein transport|regulation of apoptosis	extracellular region|nucleolus|perinuclear region of cytoplasm|platelet alpha granule lumen|protein complex|pseudopodium|ribonucleoprotein complex	actin filament binding|calcium ion binding|integrin binding|nucleoside binding|protein homodimerization activity			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|urinary_tract(3)	30	all_cancers(60;1.57e-05)|Ovarian(47;0.103)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			ATCGTCCATACCATCGAGGAG	0.642													22	37					6.36457e-07	7.36578e-07	1	1	0	A	39214701	C	A	39214701	3	1	81	1	0	0	0	0	1	0	0	0	207	507	18	5	1730	5	ACTN4	19	39214701	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	106174	39214701	19914282	13624	17240											
ECH1	1891	broad.mit.edu	37	19	39306645	39306645	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:39306645C>T	ENST00000221418.4	-	9	966	c.734G>A	c.(733-735)cGg>cAg	p.R245Q		NM_001398.2	NP_001389.2			enoyl CoA hydratase 1, peroxisomal											cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	6	all_cancers(60;9.36e-06)|Ovarian(47;0.0454)		Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575)			TGGGAACACCCGGCTGCAGTG	0.617													6	19					0	0	1	0	0	T	39306645	C	T	39306645	3	4	81	1	0	0	0	0	1	0	0	0	4918	652	23	1	260	1	ECH1	19	39306645	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	91944	39306645	19822338	13625	17241											
HNRNPL	3191	broad.mit.edu	37	19	39328286	39328286	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:39328286G>A	ENST00000594769.1	-	4	412	c.413C>T	c.(412-414)gCg>gTg	p.A138V	HNRNPL_ENST00000600873.1_Silent_p.C388C|HNRNPL_ENST00000221419.5_Silent_p.C521C																							CCAGCTCATCGCAGATCTGCA	0.493													4	28					0	0	1	0	0	A	39328286	G	A	39328286	3	1	81	1	0	0	0	0	1	0	0	0	7311	1079	38	1	218	1	HNRNPL	19	39328286	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	21641	39328286	19800697	13626	17242											
SARS2	54938	broad.mit.edu	37	19	39406518	39406518	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:39406518C>T	ENST00000221431.6	-	15	1535	c.1376G>A	c.(1375-1377)cGc>cAc	p.R459H	SARS2_ENST00000594171.1_Missense_Mutation_p.R269H|SARS2_ENST00000600042.1_Missense_Mutation_p.R461H|CTC-360G5.8_ENST00000599996.1_Silent_p.P528P|SARS2_ENST00000430193.3_Missense_Mutation_p.R459H|SARS2_ENST00000598831.1_Missense_Mutation_p.R107H|SARS2_ENST00000448145.2_Missense_Mutation_p.R459H	NM_017827.3	NP_060297.1	Q9NP81	SYSM_HUMAN	seryl-tRNA synthetase 2, mitochondrial	459					seryl-tRNA aminoacylation	mitochondrial matrix	ATP binding|protein binding|serine-tRNA ligase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	15	all_cancers(60;2.74e-06)|all_epithelial(25;4.36e-06)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			GATGAGAAGGCGGGGGACAGC	0.687													21	62					0	0	1	0	0	T	39406518	C	T	39406518	3	4	81	1	0	0	0	0	1	0	0	0	13898	768	27	1	188	1	SARS2	19	39406518	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	78232	39406518	19722465	13627	17243											
SARS2	54938	broad.mit.edu	37	19	39421200	39421200	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:39421200G>A	ENST00000221431.6	-	1	336	c.177C>T	c.(175-177)gaC>gaT	p.D59D	SARS2_ENST00000600042.1_Silent_p.D59D|MRPS12_ENST00000308018.4_5'UTR|CTC-360G5.8_ENST00000599996.1_Intron|SARS2_ENST00000430193.3_Silent_p.D59D|SARS2_ENST00000448145.2_Intron	NM_017827.3	NP_060297.1	Q9NP81	SYSM_HUMAN	seryl-tRNA synthetase 2, mitochondrial	59					seryl-tRNA aminoacylation	mitochondrial matrix	ATP binding|protein binding|serine-tRNA ligase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	15	all_cancers(60;2.74e-06)|all_epithelial(25;4.36e-06)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			ACCGCTCTATGTCCAGCTGAG	0.627											OREG0025455	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	75					0	0	1	0	0	A	39421200	G	A	39421200	2	1	81	1	0	0	0	0	0	0	0	1	13898	1368	48	2		2	SARS2	19	39421200	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	14682	39421200	19707783	13628	17244											
FBXO17	115290	broad.mit.edu	37	19	39433282	39433282	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:39433282T>C	ENST00000292852.4	-	6	1144	c.803A>G	c.(802-804)cAc>cGc	p.H268R	FBXO17_ENST00000595329.1_Missense_Mutation_p.H268R|CTC-360G5.8_ENST00000599996.1_Intron|SARS2_ENST00000448145.2_Intron	NM_024907.5	NP_079183.4			F-box protein 17											breast(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)	7	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)			CACACTGGAGTGGGTCACAAG	0.577													4	63					0	0	1	0	0	C	39433282	T	C	39433282	3	2	81	1	0	0	0	0	1	0	0	0	5763	1696	59	3	37	3	FBXO17	19	39433282	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	12082	39433282	19695701	13629	17245											
NCCRP1	342897	broad.mit.edu	37	19	39691388	39691388	+	Missense_Mutation	SNP	C	C	T	rs113786921		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:39691388C>T	ENST00000339852.4	+	6	842	c.820C>T	c.(820-822)Cgg>Tgg	p.R274W		NM_001001414.1	NP_001001414.1	Q6ZVX7	NCRP1_HUMAN	non-specific cytotoxic cell receptor protein 1 homolog (zebrafish)	274					protein catabolic process					kidney(1)|large_intestine(2)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	10						TGTGCAGCTCCGGGAGTGACT	0.607													79	116					0	0	1	0	0	T	39691388	C	T	39691388	3	4	81	1	0	0	0	0	1	0	0	0	10260	643	23	1	842	1	NCCRP1	19	39691388	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	258106	39691388	19437595	13630	17246											
LRFN1	57622	broad.mit.edu	37	19	39805018	39805018	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:39805018C>T	ENST00000248668.4	-	1	958	c.959G>A	c.(958-960)cGc>cAc	p.R320H		NM_020862.1	NP_065913.1	Q9P244	LRFN1_HUMAN	leucine rich repeat and fibronectin type III domain containing 1	320	Ig-like.					cell junction|integral to membrane|postsynaptic density|postsynaptic membrane				central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			CGCTCGGCAGCGCAGGCTCAC	0.741													3	2					0	0	1	0	0	T	39805018	C	T	39805018	3	4	81	1	0	0	0	0	1	0	0	0	8982	768	27	1	1364	1	LRFN1	19	39805018	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	113630	39805018	19323965	13631	17247											
LRFN1	57622	broad.mit.edu	37	19	39805603	39805603	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:39805603A>T	ENST00000248668.4	-	1	373	c.374T>A	c.(373-375)cTg>cAg	p.L125Q	CTC-246B18.8_ENST00000601911.1_RNA	NM_020862.1	NP_065913.1	Q9P244	LRFN1_HUMAN	leucine rich repeat and fibronectin type III domain containing 1	125						cell junction|integral to membrane|postsynaptic density|postsynaptic membrane				central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			CACCTCCGCCAGGCGGTTGCT	0.701													4	6					0	0	1	0	0	T	39805603	A	T	39805603	3	4	81	1	0	0	0	0	1	0	0	0	8982	188	7	5	1949	5	LRFN1	19	39805603	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	585	39805603	19323380	13632	17248											
PAF1	54623	broad.mit.edu	37	19	39880395	39880395	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:39880395G>A	ENST00000221265.3	-	4	507	c.177C>T	c.(175-177)gtC>gtT	p.V59V	PAF1_ENST00000595564.1_Silent_p.V49V|PAF1_ENST00000221266.7_Silent_p.V49V	NM_019088.3	NP_061961.2	Q8N7H5	PAF1_HUMAN	Paf1, RNA polymerase II associated factor, homolog (S. cerevisiae)	59					histone H2B ubiquitination|histone monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|urinary_tract(2)	17	all_cancers(60;9.14e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.88e-06)|Ovarian(47;0.0512)		Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			CTTTGTACTGGACGAACCTGG	0.552													36	82					0	0	1	0	0	A	39880395	G	A	39880395	2	1	81	1	0	0	0	0	0	0	0	1	11430	1161	41	2		2	PAF1	19	39880395	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	74792	39880395	19248588	13633	17249											
PAF1	54623	broad.mit.edu	37	19	39880742	39880742	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:39880742G>T	ENST00000221265.3	-	3	467	c.137C>A	c.(136-138)cCc>cAc	p.P46H	PAF1_ENST00000595564.1_Missense_Mutation_p.P36H|PAF1_ENST00000221266.7_Missense_Mutation_p.P36H	NM_019088.3	NP_061961.2	Q8N7H5	PAF1_HUMAN	Paf1, RNA polymerase II associated factor, homolog (S. cerevisiae)	46					histone H2B ubiquitination|histone monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|urinary_tract(2)	17	all_cancers(60;9.14e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.88e-06)|Ovarian(47;0.0512)		Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			GATGAACTTGGGGTCGAAGGG	0.537													10	99					0.00621372	0.00649472	1	1	0	T	39880742	G	T	39880742	3	4	81	1	0	0	0	0	1	0	0	0	11430	1232	43	5	1506	5	PAF1	19	39880742	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	347	39880742	19248241	13634	17250											
PLEKHG2	64857	broad.mit.edu	37	19	39907053	39907053	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:39907053G>T	ENST00000425673.1	+	5	870	c.545G>T	c.(544-546)aGg>aTg	p.R182M	PLEKHG2_ENST00000409794.3_Splice_Site_p.R182M|PLEKHG2_ENST00000378550.1_Splice_Site_p.R182M|PLEKHG2_ENST00000458508.2_Splice_Site_p.R123M|PLEKHG2_ENST00000409797.2_Splice_Site_p.R182M			Q9H7P9	PKHG2_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 2	182	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			TTCGTGCAGAGGGTGAGTGGA	0.667													13	76					2.27111e-07	2.65192e-07	1	1	0	T	39907053	G	T	39907053	5	4	81	1	0	0	0	0	0	0	1	0	12117	1014	35	4	559	4	PLEKHG2	19	39907053	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	26311	39907053	19221930	13635	17251											
SUPT5H	6829	broad.mit.edu	37	19	39948334	39948334	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:39948334G>T	ENST00000599117.1	+	5	628	c.261G>T	c.(259-261)gaG>gaT	p.E87D	SUPT5H_ENST00000598725.1_Missense_Mutation_p.E87D|SUPT5H_ENST00000359191.6_Missense_Mutation_p.E87D|SUPT5H_ENST00000402194.2_Missense_Mutation_p.E87D|SUPT5H_ENST00000432763.2_Missense_Mutation_p.E87D			O00267	SPT5H_HUMAN	suppressor of Ty 5 homolog (S. cerevisiae)	87	Glu-rich.				cell cycle|chromatin remodeling|mRNA capping|negative regulation of transcription elongation, DNA-dependent|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription elongation from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|response to organic substance|retroviral genome replication|transcription elongation from RNA polymerase II promoter	nucleoplasm	enzyme binding|protein heterodimerization activity			breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(13)|lung(12)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	51	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)		Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			ATGAGTATGAGGACGAGGACC	0.537													7	76					0.000157383	0.000171784	1	1	0	T	39948334	G	T	39948334	3	4	81	1	0	0	0	0	1	0	0	0	15455	991	35	4	271	4	SUPT5H	19	39948334	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	41281	39948334	19180649	13636	17252											
SUPT5H	6829	broad.mit.edu	37	19	39959494	39959494	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:39959494C>T	ENST00000599117.1	+	15	1503	c.1136C>T	c.(1135-1137)tCt>tTt	p.S379F	SUPT5H_ENST00000598725.1_Missense_Mutation_p.S379F|SUPT5H_ENST00000359191.6_Missense_Mutation_p.S375F|SUPT5H_ENST00000402194.2_Missense_Mutation_p.S375F|SUPT5H_ENST00000432763.2_Missense_Mutation_p.S379F			O00267	SPT5H_HUMAN	suppressor of Ty 5 homolog (S. cerevisiae)	379	Interaction with RNA polymerase II.				cell cycle|chromatin remodeling|mRNA capping|negative regulation of transcription elongation, DNA-dependent|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription elongation from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|response to organic substance|retroviral genome replication|transcription elongation from RNA polymerase II promoter	nucleoplasm	enzyme binding|protein heterodimerization activity			breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(13)|lung(12)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	51	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)		Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			TTCGCCATGTCTGCTGTGGTG	0.572													18	36					0	0	1	0	0	T	39959494	C	T	39959494	3	4	81	1	0	0	0	0	1	0	0	0	15455	913	32	2	1186	2	SUPT5H	19	39959494	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	11160	39959494	19169489	13637	17253											
FBL	2091	broad.mit.edu	37	19	40327309	40327309	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:40327309C>T	ENST00000221801.3	-	7	796		c.e7-1		FBL_ENST00000593503.1_Splice_Site	NM_001436.3	NP_001427.2	P22087	FBRL_HUMAN	fibrillarin						rRNA processing|tRNA processing	box C/D snoRNP complex|Cajal body	methyltransferase activity|protein binding|RNA binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)	9	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)	Renal(1328;0.000518)|Hepatocellular(1079;0.0893)	Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)	GBM - Glioblastoma multiforme(1328;0.000826)|STAD - Stomach adenocarcinoma(1328;0.138)		TCCACCATTGCTAAGGAGAAA	0.547													14	23					0	0	1	0	0	T	40327309	C	T	40327309	5	4	81	1	0	0	0	0	0	0	1	0	5729	811	28	2	295	2	FBL	19	40327309	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	367815	40327309	18801674	13638	17254											
FBL	2091	broad.mit.edu	37	19	40329705	40329705	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:40329705C>T	ENST00000221801.3	-	5	632	c.519G>A	c.(517-519)acG>acA	p.T173T		NM_001436.3	NP_001427.2	P22087	FBRL_HUMAN	fibrillarin	173	S-adenosyl-L-methionine binding (By similarity).				rRNA processing|tRNA processing	box C/D snoRNP complex|Cajal body	methyltransferase activity|protein binding|RNA binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)	9	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)	Renal(1328;0.000518)|Hepatocellular(1079;0.0893)	Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)	GBM - Glioblastoma multiforme(1328;0.000826)|STAD - Stomach adenocarcinoma(1328;0.138)		CATGGGAGACCGTGGTGCCCG	0.587													27	48					0	0	1	0	0	T	40329705	C	T	40329705	2	4	81	1	0	0	0	0	0	0	0	1	5729	639	23	1		1	FBL	19	40329705	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2396	40329705	18799278	13639	17255											
FCGBP	8857	broad.mit.edu	37	19	40412178	40412178	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:40412178C>T	ENST00000221347.6	-	7	3457	c.3450G>A	c.(3448-3450)ccG>ccA	p.P1150P		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	1150	Cys-rich.|TIL 2.					extracellular region	protein binding	p.P1150P(1)		NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CACAGGACAGCGGGCAGCCGT	0.622													19	31					0	0	1	0	0	T	40412178	C	T	40412178	2	4	81	1	0	0	0	0	0	0	0	1	5811	755	27	1		1	FCGBP	19	40412178	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	82473	40412178	18716805	13640	17256											
FCGBP	8857	broad.mit.edu	37	19	40419877	40419877	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:40419877G>A	ENST00000221347.6	-	6	3124	c.3117C>T	c.(3115-3117)ggC>ggT	p.G1039G		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	1039	VWFD 2.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			TTGCTCCACAGCCGGGCCTCG	0.622													15	28					0	0	1	0	0	A	40419877	G	A	40419877	2	1	81	1	0	0	0	0	0	0	0	1	5811	958	34	2		2	FCGBP	19	40419877	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	7699	40419877	18709106	13641	17257											
FCGBP	8857	broad.mit.edu	37	19	40433186	40433186	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:40433186C>T	ENST00000221347.6	-	2	1090	c.1083G>A	c.(1081-1083)gtG>gtA	p.V361V		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	361	IgGFc-binding.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			TCGTCTGTGCCACTACCAGGG	0.607													6	17					0	0	1	0	0	T	40433186	C	T	40433186	2	4	81	1	0	0	0	0	0	0	0	1	5811	581	21	2		2	FCGBP	19	40433186	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	13309	40433186	18695797	13642	17258											
FCGBP	8857	broad.mit.edu	37	19	40433710	40433710	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:40433710C>T	ENST00000221347.6	-	2	566	c.559G>A	c.(559-561)Gca>Aca	p.A187T		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	187	IgGFc-binding.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			ACATCGCCTGCTGGATAGAAC	0.567													24	41					0	0	1	0	0	T	40433710	C	T	40433710	3	4	81	1	0	0	0	0	1	0	0	0	5811	797	28	2	15798	2	FCGBP	19	40433710	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	524	40433710	18695273	13643	17259											
ZNF780A	284323	broad.mit.edu	37	19	40581101	40581101	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:40581101T>C	ENST00000450241.2	-	6	1457	c.1146A>G	c.(1144-1146)ccA>ccG	p.P382P	ZNF780A_ENST00000340963.5_Silent_p.P416P|ZNF780A_ENST00000594395.1_Silent_p.P417P|ZNF780A_ENST00000414720.2_Intron|ZNF780A_ENST00000455521.1_Silent_p.P417P|AC005614.5_ENST00000595508.1_RNA|ZNF780A_ENST00000595687.2_Silent_p.P416P			O75290	Z780A_HUMAN	zinc finger protein 780A	416					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1)	31	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					TACATTCATATGGTTTTATAC	0.383													18	231					0	0	1	0	0	C	40581101	T	C	40581101	2	2	81	1	0	0	0	0	0	0	0	1	18201	1451	51	3		3	ZNF780A	19	40581101	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	147391	40581101	18547882	13644	17260											
MAP3K10	4294	broad.mit.edu	37	19	40715068	40715068	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:40715068C>T	ENST00000253055.3	+	6	1782	c.1494C>T	c.(1492-1494)tcC>tcT	p.S498S		NM_002446.3	NP_002437.2	Q02779	M3K10_HUMAN	mitogen-activated protein kinase kinase kinase 10	498					activation of JUN kinase activity|induction of apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of JNK cascade|protein autophosphorylation|smoothened signaling pathway	cytoplasm	ATP binding|bHLH transcription factor binding|JUN kinase kinase kinase activity|protein homodimerization activity|transcription corepressor activity			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						GGAAAGGATCCGATGGGGCCA	0.562													30	56					0	0	1	0	0	T	40715068	C	T	40715068	2	4	81	1	0	0	0	0	0	0	0	1	9294	639	23	1		1	MAP3K10	19	40715068	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	133967	40715068	18413915	13645	17261											
AKT2	208	broad.mit.edu	37	19	40744860	40744860	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:40744860C>T	ENST00000392038.2	-	8	958	c.660G>A	c.(658-660)caG>caA	p.Q220Q	AKT2_ENST00000424901.1_Silent_p.Q220Q|AKT2_ENST00000311278.6_Silent_p.Q220Q|AKT2_ENST00000579047.1_Silent_p.Q158Q	NM_001243027.1|NM_001243028.1|NM_001626.4	NP_001229956.1|NP_001229957.1|NP_001617.1	P31751	AKT2_HUMAN	v-akt murine thymoma viral oncogene homolog 2	220	Protein kinase.				insulin receptor signaling pathway|negative regulation of plasma membrane long-chain fatty acid transport|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process	cytosol|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|cervix(1)|kidney(3)|large_intestine(9)|lung(10)|prostate(2)|skin(1)	27			Lung(22;0.000499)			GGTCGTGGGTCTGGAAGGCAT	0.652			A		"ovarian, pancreatic "								26	33					0	0	1	0	0	T	40744860	C	T	40744860	2	4	81	1	0	0	0	0	0	0	0	1	477	912	32	2		2	AKT2	19	40744860	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	29792	40744860	18384123	13646	17262											
PLD3	23646	broad.mit.edu	37	19	40872796	40872796	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:40872796C>T	ENST00000409587.1	+	5	616	c.219C>T	c.(217-219)cgC>cgT	p.R73R	PLD3_ENST00000409735.4_Silent_p.R73R|PLD3_ENST00000409419.1_Silent_p.R73R|PLD3_ENST00000409281.1_Silent_p.R73R|PLD3_ENST00000356508.5_Silent_p.R73R			Q8IV08	PLD3_HUMAN	phospholipase D family, member 3	73					lipid catabolic process	endoplasmic reticulum membrane|integral to membrane	NAPE-specific phospholipase D activity|phospholipase D activity|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	20			Lung(22;0.000636)|LUSC - Lung squamous cell carcinoma(20;0.00248)			CCAACCAGCGCCCAGCCCCCT	0.592													24	48					0	0	1	0	0	T	40872796	C	T	40872796	2	4	81	1	0	0	0	0	0	0	0	1	12095	726	26	2		2	PLD3	19	40872796	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	127936	40872796	18256187	13647	17263											
PLD3	23646	broad.mit.edu	37	19	40876110	40876110	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:40876110G>A	ENST00000409587.1	+	8	1041	c.644G>A	c.(643-645)gGc>gAc	p.G215D	PLD3_ENST00000409735.4_Missense_Mutation_p.G215D|PLD3_ENST00000409419.1_Missense_Mutation_p.G215D|PLD3_ENST00000409281.1_Missense_Mutation_p.G215D|PLD3_ENST00000356508.5_Missense_Mutation_p.G215D			Q8IV08	PLD3_HUMAN	phospholipase D family, member 3	215	PLD phosphodiesterase 1.				lipid catabolic process	endoplasmic reticulum membrane|integral to membrane	NAPE-specific phospholipase D activity|phospholipase D activity|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	20			Lung(22;0.000636)|LUSC - Lung squamous cell carcinoma(20;0.00248)			TTCTACCTGGGCAGTGCCAAC	0.622													5	34					0	0	1	0	0	A	40876110	G	A	40876110	3	1	81	1	0	0	0	0	1	0	0	0	12095	1203	42	2	666	2	PLD3	19	40876110	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	3314	40876110	18252873	13648	17264											
HIPK4	147746	broad.mit.edu	37	19	40890006	40890006	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:40890006C>T	ENST00000291823.2	-	2	790	c.506G>A	c.(505-507)cGc>cAc	p.R169H		NM_144685.3	NP_653286.2	Q8NE63	HIPK4_HUMAN	homeodomain interacting protein kinase 4	169	Protein kinase.					cytoplasm	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	20			Lung(22;4.95e-05)|LUSC - Lung squamous cell carcinoma(20;0.000292)			CTTCACGTAGCGCACCTCGCT	0.642													29	36					0	0	1	0	0	T	40890006	C	T	40890006	3	4	81	1	0	0	0	0	1	0	0	0	7160	768	27	1	1356	1	HIPK4	19	40890006	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	13896	40890006	18238977	13649	17265											
PRX	57716	broad.mit.edu	37	19	40902826	40902826	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:40902826A>G	ENST00000324001.7	-	7	1703	c.1433T>C	c.(1432-1434)cTc>cCc	p.L478P	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	478	55 X 5 AA approximate tandem repeats of [LVMAG]-[PSREQC]-[EDKL]-[LIVMAP]- [AQKHRPE]; that may have a tripeptide spacer of [LV]-P-[KER].				axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CACCTTTGGGAGTTTCATCTC	0.582													11	141					0	0	1	0	0	G	40902826	A	G	40902826	3	3	81	1	0	0	0	0	1	0	0	0	12691	304	11	3	2956	3	PRX	19	40902826	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	12820	40902826	18226157	13650	17266											
PRX	57716	broad.mit.edu	37	19	40902982	40902982	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:40902982C>T	ENST00000324001.7	-	7	1547	c.1277G>A	c.(1276-1278)gGc>gAc	p.G426D	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	426					axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CACTCCGATGCCAAGGGAGGG	0.612													35	51					0	0	1	0	0	T	40902982	C	T	40902982	3	4	81	1	0	0	0	0	1	0	0	0	12691	739	26	2	3112	2	PRX	19	40902982	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	156	40902982	18226001	13651	17267											
SPTBN4	57731	broad.mit.edu	37	19	40998936	40998936	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:40998936T>G	ENST00000352632.3	+	5	648	c.562T>G	c.(562-564)Ttg>Gtg	p.L188V	SPTBN4_ENST00000595535.1_Missense_Mutation_p.L188V|SPTBN4_ENST00000338932.3_Missense_Mutation_p.L188V|SPTBN4_ENST00000598249.1_Missense_Mutation_p.L188V|SPTBN4_ENST00000344104.3_Missense_Mutation_p.L188V			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	188	Actin-binding.|CH 2.				actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton	p.L188V(1)		breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TGCTCTGCTCTTGTGGTGTCA	0.502													4	35					0	0	1	0	0	G	40998936	T	G	40998936	3	3	81	1	0	0	0	0	1	0	0	0	15177	1606	56	5	576	5	SPTBN4	19	40998936	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	95954	40998936	18130047	13652	17268											
SPTBN4	57731	broad.mit.edu	37	19	41008321	41008321	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:41008321G>T	ENST00000352632.3	+	10	1196	c.1110G>T	c.(1108-1110)gaG>gaT	p.E370D	SPTBN4_ENST00000595535.1_Missense_Mutation_p.E370D|SPTBN4_ENST00000338932.3_Missense_Mutation_p.E370D|SPTBN4_ENST00000598249.1_Missense_Mutation_p.E370D|SPTBN4_ENST00000344104.3_Missense_Mutation_p.E370D			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	370					actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GGAACCTAGAGGTGCTGCTCT	0.617													24	44					1.12875e-08	1.34834e-08	1	1	0	T	41008321	G	T	41008321	3	4	81	1	0	0	0	0	1	0	0	0	15177	991	35	4	1144	4	SPTBN4	19	41008321	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	9385	41008321	18120662	13653	17269											
SPTBN4	57731	broad.mit.edu	37	19	41009792	41009792	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:41009792C>T	ENST00000352632.3	+	12	1504	c.1418C>T	c.(1417-1419)gCg>gTg	p.A473V	SPTBN4_ENST00000595535.1_Missense_Mutation_p.A473V|SPTBN4_ENST00000338932.3_Missense_Mutation_p.A473V|SPTBN4_ENST00000598249.1_Missense_Mutation_p.A473V|SPTBN4_ENST00000344104.3_Missense_Mutation_p.A473V			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	473					actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			AAACACGAAGCGATCGAGGCA	0.627													4	24					0	0	1	0	0	T	41009792	C	T	41009792	3	4	81	1	0	0	0	0	1	0	0	0	15177	768	27	1	1460	1	SPTBN4	19	41009792	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1471	41009792	18119191	13654	17270											
SPTBN4	57731	broad.mit.edu	37	19	41038566	41038566	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:41038566C>T	ENST00000352632.3	+	19	4069	c.3983C>T	c.(3982-3984)gCg>gTg	p.A1328V	SPTBN4_ENST00000595535.1_Missense_Mutation_p.A1328V|SPTBN4_ENST00000338932.3_Missense_Mutation_p.A1328V|SPTBN4_ENST00000598249.1_Missense_Mutation_p.A1328V|SPTBN4_ENST00000392025.1_Missense_Mutation_p.A71V|SPTBN4_ENST00000392023.1_Missense_Mutation_p.A4V			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	1328					actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton	p.A1328V(1)		breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			ATGCTGATGGCGCGGGATGGC	0.612													17	43					0	0	1	0	0	T	41038566	C	T	41038566	3	4	81	1	0	0	0	0	1	0	0	0	15177	768	27	1	4053	1	SPTBN4	19	41038566	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	28774	41038566	18090417	13655	17271											
SPTBN4	57731	broad.mit.edu	37	19	41040140	41040140	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:41040140C>T	ENST00000352632.3	+	20	4335	c.4249C>T	c.(4249-4251)Cag>Tag	p.Q1417*	SPTBN4_ENST00000595535.1_Nonsense_Mutation_p.Q1417*|SPTBN4_ENST00000338932.3_Nonsense_Mutation_p.Q1417*|SPTBN4_ENST00000598249.1_Nonsense_Mutation_p.Q1417*|SPTBN4_ENST00000392025.1_Nonsense_Mutation_p.Q160*|SPTBN4_ENST00000392023.1_Nonsense_Mutation_p.Q93*			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	1417					actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CCAGCTGGTGCAGAGCTTTGC	0.612													15	16					0	0	1	0	0	T	41040140	C	T	41040140	4	4	81	1	0	0	0	0	0	1	0	0	15177	711	25	2	4323	2	SPTBN4	19	41040140	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1574	41040140	18088843	13656	17272											
SHKBP1	92799	broad.mit.edu	37	19	41086793	41086793	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:41086793C>T	ENST00000291842.5	+	9	844	c.795C>T	c.(793-795)agC>agT	p.S265S	SHKBP1_ENST00000600733.1_Silent_p.S265S	NM_138392.3	NP_612401.2	Q8TBC3	SHKB1_HUMAN	SH3KBP1 binding protein 1	265						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(3)|urinary_tract(1)	29			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CCACCGGCAGCGAGATCCTGC	0.607													27	52					0	0	1	0	0	T	41086793	C	T	41086793	2	4	81	1	0	0	0	0	0	0	0	1	14339	767	27	1		1	SHKBP1	19	41086793	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	46653	41086793	18042190	13657	17273											
SHKBP1	92799	broad.mit.edu	37	19	41095083	41095083	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:41095083C>T	ENST00000291842.5	+	15	1637	c.1588C>T	c.(1588-1590)Cgg>Tgg	p.R530W	SHKBP1_ENST00000597649.1_3'UTR|SHKBP1_ENST00000600733.1_Splice_Site_p.R505W	NM_138392.3	NP_612401.2	Q8TBC3	SHKB1_HUMAN	SH3KBP1 binding protein 1	530						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(3)|urinary_tract(1)	29			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TACTGGGCAGCGGTGAGGACA	0.617													8	11					0	0	1	0	0	T	41095083	C	T	41095083	5	4	81	1	0	0	0	0	0	0	1	0	14339	782	27	1	1646	1	SHKBP1	19	41095083	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	8290	41095083	18033900	13658	17274											
LTBP4	8425	broad.mit.edu	37	19	41120228	41120228	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:41120228C>T	ENST00000308370.7	+	22	2889	c.2889C>T	c.(2887-2889)gaC>gaT	p.D963D	LTBP4_ENST00000545697.1_Silent_p.D416D|LTBP4_ENST00000204005.9_Silent_p.D926D|LTBP4_ENST00000396819.3_Silent_p.D896D|LTBP4_ENST00000243562.9_Silent_p.D61D|LTBP4_ENST00000602240.1_3'UTR	NM_001042544.1	NP_001036009.1	Q8N2S1	LTBP4_HUMAN	latent transforming growth factor beta binding protein 4	963	Cys-rich.				growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity			central_nervous_system(1)	1			Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CAGACGTGGACGAATGTCGCG	0.652													14	19					0	0	1	0	0	T	41120228	C	T	41120228	2	4	81	1	0	0	0	0	0	0	0	1	9121	535	19	1		1	LTBP4	19	41120228	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	25145	41120228	18008755	13659	17275											
ADCK4	79934	broad.mit.edu	37	19	41206296	41206296	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:41206296C>T	ENST00000324464.3	-	11	1255	c.954G>A	c.(952-954)acG>acA	p.T318T	ADCK4_ENST00000243583.6_Silent_p.T277T|ADCK4_ENST00000450541.1_Silent_p.T277T	NM_024876.3	NP_079152.3	Q96D53	ADCK4_HUMAN	aarF domain containing kinase 4	318	Protein kinase.		T -> M (in dbSNP:rs55899516).			integral to membrane	protein serine/threonine kinase activity			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(6)|stomach(2)|urinary_tract(1)	17			Lung(22;9.49e-05)|LUSC - Lung squamous cell carcinoma(20;0.000219)			GCACCCGTGTCGTGCACAGCT	0.642													15	13					0	0	1	0	0	T	41206296	C	T	41206296	2	4	81	1	0	0	0	0	0	0	0	1	289	871	31	1		1	ADCK4	19	41206296	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	86068	41206296	17922687	13660	17276											
ITPKC	80271	broad.mit.edu	37	19	41223253	41223253	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:41223253T>C	ENST00000263370.2	+	1	246	c.213T>C	c.(211-213)ccT>ccC	p.P71P		NM_025194.2	NP_079470.1	Q96DU7	IP3KC_HUMAN	inositol-trisphosphate 3-kinase C	71						cytoplasm|nucleus	ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	14			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			ACAGCGAGCCTGAGAGGGCCG	0.756													5	9					0	0	1	0	0	C	41223253	T	C	41223253	2	2	81	1	0	0	0	0	0	0	0	1	7963	1567	55	3		3	ITPKC	19	41223253	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	16957	41223253	17905730	13661	17277											
ITPKC	80271	broad.mit.edu	37	19	41223437	41223437	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:41223437A>C	ENST00000263370.2	+	1	430	c.397A>C	c.(397-399)Acg>Ccg	p.T133P		NM_025194.2	NP_079470.1	Q96DU7	IP3KC_HUMAN	inositol-trisphosphate 3-kinase C	133						cytoplasm|nucleus	ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	14			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			AGAGCTGGAGACGACTTGTCT	0.607													4	61					0	0	1	0	0	C	41223437	A	C	41223437	3	2	81	1	0	0	0	0	1	0	0	0	7963	275	10	5	399	5	ITPKC	19	41223437	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	184	41223437	17905546	13662	17278											
ITPKC	80271	broad.mit.edu	37	19	41224105	41224105	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:41224105C>T	ENST00000263370.2	+	1	1098	c.1065C>T	c.(1063-1065)ggC>ggT	p.G355G		NM_025194.2	NP_079470.1	Q96DU7	IP3KC_HUMAN	inositol-trisphosphate 3-kinase C	355						cytoplasm|nucleus	ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	14			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			GGGGCAGCGGCGGCTTCTCCT	0.692													28	37					0	0	1	0	0	T	41224105	C	T	41224105	2	4	81	1	0	0	0	0	0	0	0	1	7963	755	27	1		1	ITPKC	19	41224105	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	668	41224105	17904878	13663	17279											
ITPKC	80271	broad.mit.edu	37	19	41235124	41235124	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:41235124G>T	ENST00000263370.2	+	3	1306	c.1273G>T	c.(1273-1275)Gag>Tag	p.E425*		NM_025194.2	NP_079470.1	Q96DU7	IP3KC_HUMAN	inositol-trisphosphate 3-kinase C	425						cytoplasm|nucleus	ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	14			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			CCAGGCAGGAGAGGATGGTCG	0.532													4	30					0.0215528	0.0221217	1	1	0	T	41235124	G	T	41235124	4	4	81	1	0	0	0	0	0	1	0	0	7963	943	33	4	1283	4	ITPKC	19	41235124	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	11019	41235124	17893859	13664	17280											
C19orf54	284325	broad.mit.edu	37	19	41249867	41249867	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:41249867A>C	ENST00000378313.2	-	5	780	c.661T>G	c.(661-663)Ttc>Gtc	p.F221V	C19orf54_ENST00000470681.1_Silent_p.T41T|C19orf54_ENST00000339153.3_Missense_Mutation_p.F49V|C19orf54_ENST00000598729.1_Missense_Mutation_p.F49V|C19orf54_ENST00000598485.2_Missense_Mutation_p.F49V	NM_198476.3	NP_940878.3	Q5BKX5	CS054_HUMAN	chromosome 19 open reading frame 54	221										breast(1)|lung(1)|urinary_tract(2)	4			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			TCATGGTTGAAGTCCTCGTCG	0.622													25	50					0	0	1	0	0	C	41249867	A	C	41249867	3	2	81	1	0	0	0	0	1	0	0	0	1948	72	3	5	402	5	C19orf54	19	41249867	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	14743	41249867	17879116	13665	17281											
SNRPA	6626	broad.mit.edu	37	19	41265336	41265336	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:41265336C>T	ENST00000243563.3	+	3	797	c.247C>T	c.(247-249)Cgt>Tgt	p.R83C	SNRPA_ENST00000599570.1_3'UTR	NM_004596.4	NP_004587.1	P09012	SNRPA_HUMAN	small nuclear ribonucleoprotein polypeptide A	83	RRM 1.					nucleoplasm|spliceosomal complex	nucleotide binding|protein binding|RNA binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)	10			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			tgtTTGGTAGCGTATCCAGTA	0.532													19	45					0	0	1	0	0	T	41265336	C	T	41265336	5	4	81	1	0	0	0	0	0	0	1	0	14913	782	27	1	257	1	SNRPA	19	41265336	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	15469	41265336	17863647	13666	17282											
EGLN2	112398	broad.mit.edu	37	19	41306600	41306600	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:41306600C>A	ENST00000593726.1	+	1	1151	c.123C>A	c.(121-123)ccC>ccA	p.P41P	RAB4B-EGLN2_ENST00000594136.1_3'UTR|EGLN2_ENST00000406058.2_Silent_p.P41P|EGLN2_ENST00000303961.4_Silent_p.P41P			Q96KS0	EGLN2_HUMAN	egl-9 family hypoxia-inducible factor 2	41					cell redox homeostasis|estrogen receptor signaling pathway|positive regulation of protein catabolic process|regulation of cell growth|response to hypoxia	cytoplasm|nucleus	ferrous iron binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|oxygen sensor activity			breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	10			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		Vitamin C(DB00126)	GTTACCTGCCCTGTCCCCTGC	0.652													4	24					0.00909568	0.00944708	1	1	0	A	41306600	C	A	41306600	2	1	81	1	0	0	0	0	0	0	0	1	4995	668	24	4		4	EGLN2	19	41306600	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	41264	41306600	17822383	13667	17283											
EGLN2	112398	broad.mit.edu	37	19	41307129	41307129	+	Missense_Mutation	SNP	C	C	T	rs140368149		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:41307129C>T	ENST00000593726.1	+	1	1680	c.652C>T	c.(652-654)Cgc>Tgc	p.R218C	RAB4B-EGLN2_ENST00000594136.1_3'UTR|EGLN2_ENST00000406058.2_Missense_Mutation_p.R218C|EGLN2_ENST00000303961.4_Missense_Mutation_p.R218C			Q96KS0	EGLN2_HUMAN	egl-9 family hypoxia-inducible factor 2	218					cell redox homeostasis|estrogen receptor signaling pathway|positive regulation of protein catabolic process|regulation of cell growth|response to hypoxia	cytoplasm|nucleus	ferrous iron binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|oxygen sensor activity			breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	10			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		Vitamin C(DB00126)	ACGGGGTGGGCGCCTGCGAGA	0.682													25	47					0	0	1	0	0	T	41307129	C	T	41307129	3	4	81	1	0	0	0	0	1	0	0	0	4995	768	27	1	654	1	EGLN2	19	41307129	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	529	41307129	17821854	13668	17284											
CYP2B6	1555	broad.mit.edu	37	19	41518713	41518713	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:41518713C>A	ENST00000324071.4	+	8	1294	c.1287C>A	c.(1285-1287)ttC>ttA	p.F429L	CYP2B6_ENST00000330446.5_Missense_Mutation_p.F229L|CYP2B6_ENST00000593831.1_Missense_Mutation_p.F193L	NM_000767.4	NP_000758.1	P20813	CP2B6_HUMAN	cytochrome P450, family 2, subfamily B, polypeptide 6	429					cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(20;0.00322)		Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361)	TTATCCCCTTCTCCTTAGGTA	0.458													78	148					3.71121e-27	4.92616e-27	1	1	0	A	41518713	C	A	41518713	3	1	81	1	0	0	0	0	1	0	0	0	4187	912	32	4	1317	4	CYP2B6	19	41518713	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	211584	41518713	17610270	13669	17285											
AXL	558	broad.mit.edu	37	19	41748813	41748813	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:41748813C>T	ENST00000301178.4	+	11	1528	c.1338C>T	c.(1336-1338)ttC>ttT	p.F446F	AXL_ENST00000359092.3_Silent_p.F437F|AXL_ENST00000593513.1_Silent_p.F178F	NM_001278599.1|NM_021913.3	NP_001265528.1|NP_068713	P30530	UFO_HUMAN	AXL receptor tyrosine kinase	446						integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	48						CTCCTGCCTTCTCGTGGCCCT	0.567													39	43					0	0	1	0	0	T	41748813	C	T	41748813	2	4	81	1	0	0	0	0	0	0	0	1	1236	912	32	2		2	AXL	19	41748813	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	230100	41748813	17380170	13670	17286											
HNRNPUL1	11100	broad.mit.edu	37	19	41787069	41787069	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:41787069C>T	ENST00000392006.3	+	7	1061	c.888C>T	c.(886-888)ggC>ggT	p.G296G	HNRNPUL1_ENST00000595018.1_Splice_Site_p.G196G|HNRNPUL1_ENST00000602130.1_Splice_Site_p.G296G|HNRNPUL1_ENST00000263367.3_Splice_Site_p.G207G|HNRNPUL1_ENST00000378215.4_Intron|HNRNPUL1_ENST00000352456.3_Splice_Site_p.G196G|HNRNPUL1_ENST00000593587.1_Splice_Site_p.G196G	NM_007040.3	NP_008971.2	Q9BUJ2	HNRL1_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 1	296	B30.2/SPRY.|Necessary for interaction with TP53.				nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	enzyme binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	29						TTCCGTCAGGCGAAGAGCCTT	0.438													24	21					0	0	1	0	0	T	41787069	C	T	41787069	5	4	81	1	0	0	0	0	0	0	1	0	7315	782	27	1	914	1	HNRNPUL1	19	41787069	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	38256	41787069	17341914	13671	17287											
HNRNPUL1	11100	broad.mit.edu	37	19	41798220	41798220	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:41798220G>A	ENST00000392006.3	+	8	1243	c.1070G>A	c.(1069-1071)cGa>cAa	p.R357Q	HNRNPUL1_ENST00000595018.1_Missense_Mutation_p.R257Q|HNRNPUL1_ENST00000602130.1_Missense_Mutation_p.R357Q|HNRNPUL1_ENST00000263367.3_Missense_Mutation_p.R268Q|HNRNPUL1_ENST00000378215.4_Missense_Mutation_p.R243Q|HNRNPUL1_ENST00000352456.3_Missense_Mutation_p.R257Q|HNRNPUL1_ENST00000593587.1_Missense_Mutation_p.R257Q	NM_007040.3	NP_008971.2	Q9BUJ2	HNRL1_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 1	357	B30.2/SPRY.|Necessary for interaction with TP53.				nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	enzyme binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	29						ATTGCTTTCCGAATCCAGAAG	0.478													7	165					0	0	1	0	0	A	41798220	G	A	41798220	3	1	81	1	0	0	0	0	1	0	0	0	7315	1058	37	1	1100	1	HNRNPUL1	19	41798220	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	11151	41798220	17330763	13672	17288											
BCKDHA	593	broad.mit.edu	37	19	41925141	41925141	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:41925141G>A	ENST00000269980.2	+	5	954	c.586G>A	c.(586-588)Ggc>Agc	p.G196S	CTC-435M10.3_ENST00000540732.1_Missense_Mutation_p.G230S|BCKDHA_ENST00000457836.2_Missense_Mutation_p.G174S|BCKDHA_ENST00000595085.1_Missense_Mutation_p.G230S|BCKDHA_ENST00000535632.1_3'UTR	NM_000709.3|NM_001164783.1	NP_000700.1|NP_001158255.1	P12694	ODBA_HUMAN	branched chain keto acid dehydrogenase E1, alpha polypeptide	196					branched chain family amino acid catabolic process	mitochondrial alpha-ketoglutarate dehydrogenase complex	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity|alpha-ketoacid dehydrogenase activity|carboxy-lyase activity|metal ion binding|protein binding			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	10						TGTCCACTACGGCTGCAAGGA	0.572													11	22					0	0	1	0	0	A	41925141	G	A	41925141	3	1	81	1	0	0	0	0	1	0	0	0	1357	1116	39	1	604	1	BCKDHA	19	41925141	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	126921	41925141	17203842	13673	17289											
CEACAM21	90273	broad.mit.edu	37	19	42083694	42083694	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:42083694A>G	ENST00000187608.9	+	2	247	c.207A>G	c.(205-207)aaA>aaG	p.K69K	CEACAM21_ENST00000407170.2_5'UTR|CEACAM21_ENST00000401445.2_Silent_p.K69K|CEACAM21_ENST00000482870.2_3'UTR	NM_001098506.1|NM_033543.3	NP_001091976.1|NP_291021	Q3KPI0	CEA21_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 21	69						integral to membrane				endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|urinary_tract(1)	13						GCTGGTACAAAGGGAAAACGG	0.483													4	35					0	0	1	0	0	G	42083694	A	G	42083694	2	3	81	1	0	0	0	0	0	0	0	1	3214	69	3	3		3	CEACAM21	19	42083694	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	158553	42083694	17045289	13674	17290											
CEACAM21	90273	broad.mit.edu	37	19	42085687	42085687	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:42085687T>C	ENST00000407170.2	+	4	835	c.22T>C	c.(22-24)Ttg>Ctg	p.L8L	CEACAM21_ENST00000187608.9_Intron|CEACAM21_ENST00000401445.2_Intron|CEACAM21_ENST00000482870.2_Intron			Q3KPI0	CEA21_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 21	0						integral to membrane				endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|urinary_tract(1)	13						ACACTTTCTGTTGGTCACTCT	0.512													3	32					0	0	1	0	0	C	42085687	T	C	42085687	2	2	81	1	0	0	0	0	0	0	0	1	3214	1740	60	3		3	CEACAM21	19	42085687	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	1993	42085687	17043296	13675	17291											
CEACAM7	1087	broad.mit.edu	37	19	42187995	42187995	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:42187995C>T	ENST00000006724.3	-	3	629		c.e3-1		CEACAM7_ENST00000599715.1_Splice_Site|CEACAM7_ENST00000338196.4_Intron|CEACAM7_ENST00000401731.1_Splice_Site|CEACAM7_ENST00000602225.1_Intron	NM_006890.3	NP_008821.1	Q14002	CEAM7_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 7							anchored to membrane|integral to membrane|plasma membrane				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(3;0.0027)|all cancers(3;0.00979)|Epithelial(262;0.0366)		GGTGGCTCCGCTGTGCAGATA	0.512													31	62					0	0	1	0	0	T	42187995	C	T	42187995	5	4	81	1	0	0	0	0	0	0	1	0	3219	811	28	2	378	2	CEACAM7	19	42187995	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	102308	42187995	16940988	13676	17292											
CEACAM5	1048	broad.mit.edu	37	19	42213702	42213702	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:42213702C>T	ENST00000221992.6	+	2	282	c.168C>T	c.(166-168)caC>caT	p.H56H	CEA_ENST00000598976.1_Silent_p.H56H|CEACAM5_ENST00000398599.4_Silent_p.H56H|CEACAM5_ENST00000405816.1_Silent_p.H56H	NM_004363.2	NP_004354.2	P06731	CEAM5_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 5	56	Ig-like 1.					anchored to membrane|basolateral plasma membrane|integral to plasma membrane				breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		TACTTGTCCACAATCTGCCCC	0.483													40	65					0	0	1	0	0	T	42213702	C	T	42213702	2	4	81	1	0	0	0	0	0	0	0	1	3217	477	17	2		2	CEACAM5	19	42213702	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	25707	42213702	16915281	13677	17293											
CEACAM5	1048	broad.mit.edu	37	19	42219608	42219608	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:42219608C>A	ENST00000221992.6	+	4	857	c.743C>A	c.(742-744)tCt>tAt	p.S248Y	CEA_ENST00000598976.1_Intron|CEACAM5_ENST00000398599.4_Missense_Mutation_p.S248Y|CEACAM5_ENST00000405816.1_Missense_Mutation_p.S248Y	NM_004363.2	NP_004354.2	P06731	CEAM5_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 5	248	Ig-like 3.					anchored to membrane|basolateral plasma membrane|integral to plasma membrane				breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		CTAAACACATCTTACAGATCA	0.507													5	52					0.000602214	0.000646338	1	1	0	A	42219608	C	A	42219608	3	1	81	1	0	0	0	0	1	0	0	0	3217	913	32	4	757	4	CEACAM5	19	42219608	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	5906	42219608	16909375	13678	17294											
LYPD4	147719	broad.mit.edu	37	19	42341267	42341267	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:42341267C>A	ENST00000330743.3	-	5	1902	c.691G>T	c.(691-693)Gat>Tat	p.D231Y	LYPD4_ENST00000601246.1_Missense_Mutation_p.D196Y|LYPD4_ENST00000343055.4_Missense_Mutation_p.D196Y	NM_173506.4	NP_775777.3	Q6UWN0	LYPD4_HUMAN	LY6/PLAUR domain containing 4	231						anchored to membrane|plasma membrane				breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(2)	12						CAAGCAGGATCTTGCCTGGAG	0.478													9	99					1.76689e-08	2.10148e-08	1	1	0	A	42341267	C	A	42341267	3	1	81	1	0	0	0	0	1	0	0	0	9158	913	32	4	53	4	LYPD4	19	42341267	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	121659	42341267	16787716	13679	17295											
RPS19	6223	broad.mit.edu	37	19	42365246	42365246	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:42365246C>A	ENST00000598742.1	+	3	509	c.137C>A	c.(136-138)gCt>gAt	p.A46D	RPS19_ENST00000221975.2_5'UTR|RPS19_ENST00000593863.1_Missense_Mutation_p.A46D	NM_001022.3	NP_001013.1	P39019	RS19_HUMAN	ribosomal protein S19	46					endocrine pancreas development|erythrocyte differentiation|gas transport|positive regulation of cellular component movement|response to extracellular stimulus|ribosomal small subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleolus	protein binding|RNA binding|structural constituent of ribosome			endometrium(1)|lung(1)|upper_aerodigestive_tract(1)	3						AAAGAGCTTGCTCCCTACGAT	0.537									Diamond-Blackfan Anemia				4	39					0.217242	0.218703	1	1	0	A	42365246	C	A	42365246	3	1	81	1	0	0	0	0	1	0	0	0	13681	797	28	4	143	4	RPS19	19	42365246	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	23979	42365246	16763737	13680	17296											
ARHGEF1	9138	broad.mit.edu	37	19	42396804	42396804	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:42396804G>A	ENST00000599846.1	+	7	623	c.498G>A	c.(496-498)acG>acA	p.T166T	ARHGEF1_ENST00000347545.4_Silent_p.T133T|ARHGEF1_ENST00000337665.4_Silent_p.T181T|ARHGEF1_ENST00000378152.4_Silent_p.T148T|ARHGEF1_ENST00000354532.3_Silent_p.T166T			Q92888	ARHG1_HUMAN	Rho guanine nucleotide exchange factor (GEF) 1	166	RGSL.				cell proliferation|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis|regulation of Rho protein signal transduction|Rho protein signal transduction	cytosol|plasma membrane	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(8)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425)		Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644)		TGGGCATGACGCCCTGGGAGC	0.697													13	16					0	0	1	0	0	A	42396804	G	A	42396804	2	1	81	1	0	0	0	0	0	0	0	1	890	1074	38	1		1	ARHGEF1	19	42396804	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	31558	42396804	16732179	13681	17297											
ARHGEF1	9138	broad.mit.edu	37	19	42396878	42396878	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:42396878G>A	ENST00000599846.1	+	7	697	c.572G>A	c.(571-573)cGg>cAg	p.R191Q	ARHGEF1_ENST00000347545.4_Missense_Mutation_p.R158Q|ARHGEF1_ENST00000337665.4_Missense_Mutation_p.R206Q|ARHGEF1_ENST00000378152.4_Missense_Mutation_p.R173Q|ARHGEF1_ENST00000354532.3_Missense_Mutation_p.R191Q			Q92888	ARHG1_HUMAN	Rho guanine nucleotide exchange factor (GEF) 1	191	RGSL.				cell proliferation|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis|regulation of Rho protein signal transduction|Rho protein signal transduction	cytosol|plasma membrane	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(8)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425)		Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644)		GCCCGGGAGCGGCACGTGGCG	0.706													6	13					0	0	1	0	0	A	42396878	G	A	42396878	3	1	81	1	0	0	0	0	1	0	0	0	890	1116	39	1	643	1	ARHGEF1	19	42396878	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	74	42396878	16732105	13682	17298											
ATP1A3	478	broad.mit.edu	37	19	42489540	42489540	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:42489540G>T	ENST00000545399.1	-	7	834	c.681C>A	c.(679-681)ccC>ccA	p.P227P	ATP1A3_ENST00000302102.5_Silent_p.P214P|ATP1A3_ENST00000543770.1_Silent_p.P225P|ATP1A3_ENST00000602133.1_Silent_p.P184P	NM_001256214.1	NP_001243143.1	P13637	AT1A3_HUMAN	ATPase, Na+/K+ transporting, alpha 3 polypeptide	214					ATP biosynthetic process	endoplasmic reticulum|Golgi apparatus	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						AGCGAGTCTGGGGCTCGGATT	0.592													17	48					1.01871e-10	1.25121e-10	1	1	0	T	42489540	G	T	42489540	2	4	81	1	0	0	0	0	0	0	0	1	1129	1219	43	5		5	ATP1A3	19	42489540	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	92662	42489540	16639443	13683	17299											
GRIK5	2901	broad.mit.edu	37	19	42546742	42546742	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:42546742C>T	ENST00000262895.3	-	11	1434	c.1435G>A	c.(1435-1437)Ggc>Agc	p.G479S	GRIK5_ENST00000593562.1_Missense_Mutation_p.G479S|GRIK5_ENST00000301218.4_Missense_Mutation_p.G479S	NM_002088.4	NP_002079.3	Q16478	GRIK5_HUMAN	glutamate receptor, ionotropic, kainate 5	479						cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	35		Prostate(69;0.059)			L-Glutamic Acid(DB00142)	GTCCAGGAGCCGTTGGGCTCG	0.692													27	26					0	0	1	0	0	T	42546742	C	T	42546742	3	4	81	1	0	0	0	0	1	0	0	0	6818	652	23	1	1543	1	GRIK5	19	42546742	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	57202	42546742	16582241	13684	17300											
GRIK5	2901	broad.mit.edu	37	19	42557982	42557982	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:42557982G>A	ENST00000262895.3	-	9	1155	c.1156C>T	c.(1156-1158)Cgt>Tgt	p.R386C	GRIK5_ENST00000593562.1_Missense_Mutation_p.R386C|GRIK5_ENST00000301218.4_Missense_Mutation_p.R386C	NM_002088.4	NP_002079.3	Q16478	GRIK5_HUMAN	glutamate receptor, ionotropic, kainate 5	386						cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	35		Prostate(69;0.059)			L-Glutamic Acid(DB00142)	CTCACCTCACGGTGGCCCTGC	0.647													6	17					0	0	1	0	0	A	42557982	G	A	42557982	3	1	81	1	0	0	0	0	1	0	0	0	6818	1116	39	1	1830	1	GRIK5	19	42557982	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	11240	42557982	16571001	13685	17301											
ZNF574	64763	broad.mit.edu	37	19	42584573	42584573	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:42584573C>A	ENST00000600245.1	+	2	2470	c.1815C>A	c.(1813-1815)taC>taA	p.Y605*	ZNF574_ENST00000359044.4_Nonsense_Mutation_p.Y605*|ZNF574_ENST00000222339.7_Nonsense_Mutation_p.Y695*			Q6ZN55	ZN574_HUMAN	zinc finger protein 574	605					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20		Prostate(69;0.059)				CAGGTGAATACCCCTACAAGT	0.647													18	30					3.41278e-10	4.16681e-10	1	1	0	A	42584573	C	A	42584573	4	1	81	1	0	0	0	0	0	1	0	0	18063	518	18	5	1817	5	ZNF574	19	42584573	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	26591	42584573	16544410	13686	17302											
ZNF574	64763	broad.mit.edu	37	19	42585217	42585217	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:42585217G>A	ENST00000600245.1	+	2	3114	c.2459G>A	c.(2458-2460)cGa>cAa	p.R820Q	ZNF574_ENST00000359044.4_Missense_Mutation_p.R820Q|ZNF574_ENST00000222339.7_Missense_Mutation_p.R910Q			Q6ZN55	ZN574_HUMAN	zinc finger protein 574	820					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20		Prostate(69;0.059)				ACAGGCGAACGACCCTACTCC	0.612													16	30					0	0	1	0	0	A	42585217	G	A	42585217	3	1	81	1	0	0	0	0	1	0	0	0	18063	1058	37	1	2461	1	ZNF574	19	42585217	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	644	42585217	16543766	13687	17303											
ZNF526	116115	broad.mit.edu	37	19	42730536	42730536	+	Missense_Mutation	SNP	G	G	A	rs143303371	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:42730536G>A	ENST00000301215.3	+	3	2206	c.1981G>A	c.(1981-1983)Ggg>Agg	p.G661R		NM_133444.1	NP_597701.1	Q8TF50	ZN526_HUMAN	zinc finger protein 526	661					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(3)	22		Prostate(69;0.0704)				TGAAGCAGGCGGGCTCTTGCA	0.602													33	92					0	0	1	0	0	A	42730536	G	A	42730536	3	1	81	1	0	0	0	0	1	0	0	0	18024	1116	39	1	1983	1	ZNF526	19	42730536	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	145319	42730536	16398447	13688	17304											
CIC	23152	broad.mit.edu	37	19	42797203	42797203	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:42797203G>A	ENST00000572681.2	+	16	6354	c.6286G>A	c.(6286-6288)Gtg>Atg	p.V2096M	CIC_ENST00000575354.2_Missense_Mutation_p.V1189M|CIC_ENST00000160740.3_Missense_Mutation_p.V1187M			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	1189					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	p.V1189L(1)		autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CAGCATTCCCGTGGGGTCCTT	0.672			"Mis, F, S"		oligodendroglioma								9	11					0	0	1	0	0	A	42797203	G	A	42797203	3	1	81	1	0	0	0	0	1	0	0	0	3446	1145	40	1	3623	1	CIC	19	42797203	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	66667	42797203	16331780	13689	17305											
CIC	23152	broad.mit.edu	37	19	42797910	42797910	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:42797910G>A	ENST00000572681.2	+	17	6751	c.6683G>A	c.(6682-6684)cGc>cAc	p.R2228H	CIC_ENST00000575354.2_Missense_Mutation_p.R1321H|CIC_ENST00000160740.3_Missense_Mutation_p.R1319H			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	1321					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				ACCCCGGAGCGCAAGGAGGCG	0.687			"Mis, F, S"		oligodendroglioma								21	24					0	0	1	0	0	A	42797910	G	A	42797910	3	1	81	1	0	0	0	0	1	0	0	0	3446	1087	38	1	4024	1	CIC	19	42797910	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	707	42797910	16331073	13690	17306											
PRR19	284338	broad.mit.edu	37	19	42813973	42813973	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:42813973C>T	ENST00000499536.2	+	1	1048	c.237C>T	c.(235-237)caC>caT	p.H79H	PRR19_ENST00000341747.3_Silent_p.H79H|PRR19_ENST00000598490.1_Silent_p.H79H			A6NJB7	PRR19_HUMAN	proline rich 19	79										NS(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	10		Prostate(69;0.00682)				TCTTCAACCACGAGGTGAAAT	0.647													47	103					0	0	1	0	0	T	42813973	C	T	42813973	2	4	81	1	0	0	0	0	0	0	0	1	12643	535	19	1		1	PRR19	19	42813973	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	16063	42813973	16315010	13691	17307											
TMEM145	284339	broad.mit.edu	37	19	42827796	42827796	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:42827796T>C	ENST00000301204.3	+	14	1297	c.1256T>C	c.(1255-1257)aTc>aCc	p.I419T		NM_173633.2	NP_775904.2	Q8NBT3	TM145_HUMAN	transmembrane protein 145	419						integral to membrane				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	27		Prostate(69;0.00682)				ACGTCGCAGATCGCTTCAGCC	0.627													6	35					0	0	1	0	0	C	42827796	T	C	42827796	3	2	81	1	0	0	0	0	1	0	0	0	16119	1435	50	3	1310	3	TMEM145	19	42827796	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	13823	42827796	16301187	13692	17308											
MEGF8	1954	broad.mit.edu	37	19	42838210	42838210	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:42838210G>A	ENST00000334370.4	+	3	1038	c.403G>A	c.(403-405)Gcc>Acc	p.A135T	MEGF8_ENST00000251268.6_Missense_Mutation_p.A135T	NM_001410.2	NP_001401.2	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	135	CUB 1.					integral to membrane	calcium ion binding|structural molecule activity			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				GGGCTTTAACGCCTCATTCCG	0.652													7	17					0	0	1	0	0	A	42838210	G	A	42838210	3	1	81	1	0	0	0	0	1	0	0	0	9513	1087	38	1	413	1	MEGF8	19	42838210	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	10414	42838210	16290773	13693	17309											
MEGF8	1954	broad.mit.edu	37	19	42840958	42840958	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:42840958G>T	ENST00000334370.4	+	7	1879		c.e7-1		MEGF8_ENST00000251268.6_Splice_Site	NM_001410.2	NP_001401.2	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8							integral to membrane	calcium ion binding|structural molecule activity			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				TCCTTCGGTAGGTTCTCTGTG	0.617													23	41					3.6726e-16	4.70534e-16	1	1	0	T	42840958	G	T	42840958	5	4	81	1	0	0	0	0	0	0	1	0	9513	1014	35	4	1270	4	MEGF8	19	42840958	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2748	42840958	16288025	13694	17310											
MEGF8	1954	broad.mit.edu	37	19	42866664	42866664	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:42866664C>T	ENST00000334370.4	+	33	6407	c.5772C>T	c.(5770-5772)tgC>tgT	p.C1924C	MEGF8_ENST00000251268.6_Silent_p.C1991C	NM_001410.2	NP_001401.2	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	1991	PSI 5.					integral to membrane	calcium ion binding|structural molecule activity			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				CAGGGAACTGCTCCGAGGCTG	0.627													7	97					0	0	1	0	0	T	42866664	C	T	42866664	2	4	81	1	0	0	0	0	0	0	0	1	9513	805	28	2		2	MEGF8	19	42866664	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	25706	42866664	16262319	13695	17311											
LIPE	3991	broad.mit.edu	37	19	42906780	42906780	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:42906780G>A	ENST00000244289.4	-	9	3222	c.2946C>T	c.(2944-2946)agC>agT	p.S982S	LIPE-AS1_ENST00000599276.1_RNA|LIPE-AS1_ENST00000594624.2_RNA|LIPE-AS1_ENST00000593491.2_RNA|LIPE-AS1_ENST00000597203.1_RNA	NM_005357.2	NP_005348.2	Q05469	LIPS_HUMAN	lipase, hormone-sensitive	982					cholesterol metabolic process|protein phosphorylation|triglyceride catabolic process	caveola|cytosol	hormone-sensitive lipase activity|protein binding			breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		Prostate(69;0.00682)				CAGGTGGCAGGCTCTTGAGCA	0.642													9	19					0	0	1	0	0	A	42906780	G	A	42906780	2	1	81	1	0	0	0	0	0	0	0	1	8862	1194	42	2		2	LIPE	19	42906780	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	40116	42906780	16222203	13696	17312											
CEACAM8	1088	broad.mit.edu	37	19	43093759	43093759	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:43093759G>A	ENST00000244336.5	-	3	654	c.553C>T	c.(553-555)Ctc>Ttc	p.L185F	LIPE-AS1_ENST00000594624.2_RNA|LIPE-AS1_ENST00000594688.1_RNA|CEACAM8_ENST00000599005.1_Intron	NM_001816.3	NP_001807.2	P31997	CEAM8_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 8	185	Ig-like C2-type 1.				immune response	anchored to membrane|extracellular space|integral to plasma membrane		p.L185I(1)		endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	16		Prostate(69;0.00899)				CTGACCGGGAGACTCTGACCA	0.527													70	98					0	0	1	0	0	A	43093759	G	A	43093759	3	1	81	1	0	0	0	0	1	0	0	0	3220	942	33	2	508	2	CEACAM8	19	43093759	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	186979	43093759	16035224	13697	17313											
CEACAM8	1088	broad.mit.edu	37	19	43097933	43097933	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:43097933G>T	ENST00000244336.5	-	2	285	c.184C>A	c.(184-186)Cct>Act	p.P62T	LIPE-AS1_ENST00000594624.2_RNA|LIPE-AS1_ENST00000594688.1_RNA|CEACAM8_ENST00000599005.1_Intron	NM_001816.3	NP_001807.2	P31997	CEAM8_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 8	62	Ig-like V-type.				immune response	anchored to membrane|extracellular space|integral to plasma membrane				endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	16		Prostate(69;0.00899)				TAGCCACGAGGGTCCTGGGGC	0.507													56	81					8.52622e-23	1.12091e-22	1	1	0	T	43097933	G	T	43097933	3	4	81	1	0	0	0	0	1	0	0	0	3220	1232	43	5	881	5	CEACAM8	19	43097933	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	4174	43097933	16031050	13698	17314											
PSG3	5671	broad.mit.edu	37	19	43233277	43233277	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:43233277G>A	ENST00000327495.5	-	5	1425	c.1241C>T	c.(1240-1242)tCt>tTt	p.S414F	PSG3_ENST00000595140.1_Missense_Mutation_p.S414F	NM_021016.3	NP_066296.2	Q16557	PSG3_HUMAN	pregnancy specific beta-1-glycoprotein 3	414					defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36		Prostate(69;0.00682)				CCACTTACCAGAGACTTTGAC	0.468													58	108					0	0	1	0	0	A	43233277	G	A	43233277	3	1	81	1	0	0	0	0	1	0	0	0	12705	942	33	2	53	2	PSG3	19	43233277	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	135344	43233277	15895706	13699	17315											
PSG7	5676	broad.mit.edu	37	19	43439811	43439811	+	RNA	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:43439811G>A	ENST00000446844.3	-	0	264				PSG7_ENST00000406070.2_RNA			Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy	extracellular region							Prostate(69;0.00682)				AGATTCTGGGGCAAATTGTGG	0.448													76	118					0	0	1	0	0	A	43439811	G	A	43439811	1	1	81	0	1	0	0	0	0	0	0	0	12709	1203	42	2		2	PSG7	19	43439811	RNA	SNP	G	TCGA-DU-6392-01A-11D-1705-08	206534	43439811	15689172	13700	17316											
PSG11	5680	broad.mit.edu	37	19	43529131	43529131	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:43529131C>A	ENST00000401740.1	-	2	245	c.142G>T	c.(142-144)Ggg>Tgg	p.G48W	PSG11_ENST00000320078.7_Missense_Mutation_p.G48W|PSG11_ENST00000306322.7_Intron|PSG11_ENST00000403486.1_Intron			Q9UQ72	PSG11_HUMAN	pregnancy specific beta-1-glycoprotein 11	48	Ig-like V-type.				female pregnancy	extracellular region				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	26		Prostate(69;0.00682)				ACATCCTTCCCCTCGGACACT	0.473													80	116					5.42381e-49	7.3005e-49	1	1	0	A	43529131	C	A	43529131	3	1	81	1	0	0	0	0	1	0	0	0	12703	623	22	5	881	5	PSG11	19	43529131	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	89320	43529131	15599852	13701	17317											
PSG4	5672	broad.mit.edu	37	19	43708105	43708105	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:43708105G>T	ENST00000405312.3	-	2	600	c.363C>A	c.(361-363)acC>acA	p.T121T	PSG4_ENST00000244295.9_Silent_p.T121T|PSG4_ENST00000433626.2_Silent_p.T121T	NM_002780.3	NP_002771.2	Q00888	PSG4_HUMAN	pregnancy specific beta-1-glycoprotein 4	121	Ig-like V-type.				defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24		Prostate(69;0.00682)				TGATGTGTAAGGTGTAGGATC	0.483													82	135					2.80266e-47	3.77129e-47	1	1	0	T	43708105	G	T	43708105	2	4	81	1	0	0	0	0	0	0	0	1	12706	987	35	4		4	PSG4	19	43708105	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	178974	43708105	15420878	13702	17318											
PSG9	5678	broad.mit.edu	37	19	43757796	43757796	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:43757796G>A	ENST00000270077.3	-	6	1342	c.1246C>T	c.(1246-1248)Ccc>Tcc	p.P416S	PSG9_ENST00000593948.1_Missense_Mutation_p.P323S|PSG9_ENST00000418820.2_Intron|PSG9_ENST00000291752.5_Missense_Mutation_p.P230S|PSG9_ENST00000443718.3_Missense_Mutation_p.P323S	NM_002784.3	NP_002775.3	Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 9	416					female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Prostate(69;0.00682)				ccatggcagggacctgattga	0.463													21	44					0	0	1	0	0	A	43757796	G	A	43757796	3	1	81	1	0	0	0	0	1	0	0	0	12711	1174	41	2	38	2	PSG9	19	43757796	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	49691	43757796	15371187	13703	17319											
CD177	57126	broad.mit.edu	37	19	43864431	43864431	+	RNA	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:43864431C>T	ENST00000378009.4	+	0	795				CD177_ENST00000607517.1_RNA	NM_020406.2	NP_065139.2	Q8N6Q3	CD177_HUMAN	CD177 molecule						blood coagulation|leukocyte migration	anchored to membrane|plasma membrane				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5		Prostate(69;0.00682)				TCTGACCTGTCATCGGGGGAC	0.552													3	13					0	0	1	0	0	T	43864431	C	T	43864431	1	4	81	0	1	0	0	0	0	0	0	0	2993	826	29	2		2	CD177	19	43864431	RNA	SNP	C	TCGA-DU-6392-01A-11D-1705-08	106635	43864431	15264552	13704	17320											
IRGQ	126298	broad.mit.edu	37	19	44096855	44096855	+	Missense_Mutation	SNP	C	C	T	rs111946192		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:44096855C>T	ENST00000422989.1	-	3	1350	c.1195G>A	c.(1195-1197)Ggc>Agc	p.G399S	IRGQ_ENST00000601520.1_Intron|IRGQ_ENST00000602269.1_Missense_Mutation_p.G399S|L34079.2_ENST00000594374.1_Intron	NM_001007561.2	NP_001007562.1	Q8WZA9	IRGQ_HUMAN	immunity-related GTPase family, Q	399							protein binding			endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(3)	18		Prostate(69;0.0199)				TTCTTCATGCCGACAACCTGC	0.622													43	51					0	0	1	0	0	T	44096855	C	T	44096855	3	4	81	1	0	0	0	0	1	0	0	0	7883	652	23	1	680	1	IRGQ	19	44096855	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	232424	44096855	15032128	13705	17321											
IRGQ	126298	broad.mit.edu	37	19	44097296	44097296	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:44097296C>T	ENST00000422989.1	-	3	909	c.754G>A	c.(754-756)Gct>Act	p.A252T	IRGQ_ENST00000602269.1_Missense_Mutation_p.A252T	NM_001007561.2	NP_001007562.1	Q8WZA9	IRGQ_HUMAN	immunity-related GTPase family, Q	252							protein binding			endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(3)	18		Prostate(69;0.0199)				GCAGGCGCAGCGCCTGGGTCG	0.692													12	14					0	0	1	0	0	T	44097296	C	T	44097296	3	4	81	1	0	0	0	0	1	0	0	0	7883	768	27	1	1121	1	IRGQ	19	44097296	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	441	44097296	15031687	13706	17322											
IRGQ	126298	broad.mit.edu	37	19	44097491	44097491	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:44097491C>T	ENST00000422989.1	-	3	714	c.559G>A	c.(559-561)Gag>Aag	p.E187K	IRGQ_ENST00000602269.1_Missense_Mutation_p.E187K	NM_001007561.2	NP_001007562.1	Q8WZA9	IRGQ_HUMAN	immunity-related GTPase family, Q	187							protein binding			endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(3)	18		Prostate(69;0.0199)				CCCAACACCTCGAAGCCATCC	0.637													27	30					0	0	1	0	0	T	44097491	C	T	44097491	3	4	81	1	0	0	0	0	1	0	0	0	7883	893	31	1	1316	1	IRGQ	19	44097491	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	195	44097491	15031492	13707	17323											
KCNN4	3783	broad.mit.edu	37	19	44273958	44273958	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:44273958C>A	ENST00000262888.3	-	5	1238	c.843G>T	c.(841-843)ctG>ctT	p.L281L		NM_002250.2	NP_002241.1	O15554	KCNN4_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 4	281					defense response	voltage-gated potassium channel complex	calcium-activated potassium channel activity|calmodulin binding			biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	15		Prostate(69;0.0352)			Clotrimazole(DB00257)|Halothane(DB01159)|Quinine(DB00468)	CCACGGCCACCAGCAGGGCTG	0.592													23	45					1.9806e-07	2.31852e-07	1	1	0	A	44273958	C	A	44273958	2	1	81	1	0	0	0	0	0	0	0	1	8125	581	21	5		5	KCNN4	19	44273958	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	176467	44273958	14855025	13708	17324											
ZNF283	284349	broad.mit.edu	37	19	44339668	44339668	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:44339668C>A	ENST00000324461.7	+	5	431	c.134C>A	c.(133-135)tCt>tAt	p.S45Y	ZNF283_ENST00000593268.1_Missense_Mutation_p.S45Y|ZNF283_ENST00000593164.1_Missense_Mutation_p.S20Y|ZNF283_ENST00000588797.1_5'UTR|ZNF283_ENST00000310738.8_Missense_Mutation_p.S9Y|ZNF283_ENST00000590950.1_Missense_Mutation_p.S20Y|ZNF283_ENST00000586976.1_3'UTR	NM_181845.1	NP_862828.1	Q8N7M2	ZN283_HUMAN	zinc finger protein 283	45					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(3)|lung(4)	8		Prostate(69;0.0352)				TCTGGCTTTTCTGGATTCTGT	0.428													4	8					0.150653	0.152522	1	1	0	A	44339668	C	A	44339668	3	1	81	1	0	0	0	0	1	0	0	0	17878	913	32	4	140	4	ZNF283	19	44339668	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	65710	44339668	14789315	13709	17325											
ZNF45	7596	broad.mit.edu	37	19	44419006	44419006	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:44419006A>G	ENST00000269973.5	-	10	1672	c.582T>C	c.(580-582)tgT>tgC	p.C194C	ZNF45_ENST00000589703.1_Silent_p.C194C|RP11-15A1.2_ENST00000586247.1_RNA	NM_003425.3	NP_003416.1	Q02386	ZNF45_HUMAN	zinc finger protein 45	194					multicellular organismal development	nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	17						CACATTTTTCACATTTGTAGG	0.413													69	113					0	0	1	0	0	G	44419006	A	G	44419006	2	3	81	1	0	0	0	0	0	0	0	1	17978	157	6	3		3	ZNF45	19	44419006	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	79338	44419006	14709977	13710	17326											
ZNF221	7638	broad.mit.edu	37	19	44471408	44471408	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:44471408G>T	ENST00000251269.5	+	6	2082	c.1754G>T	c.(1753-1755)aGt>aTt	p.S585I	ZNF221_ENST00000587682.1_Missense_Mutation_p.S585I|ZNF221_ENST00000592350.1_Missense_Mutation_p.S585I	NM_013359.2	NP_037491	Q9UK13	ZN221_HUMAN	zinc finger protein 221	585					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(11)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	30		Prostate(69;0.0352)				AGACTCCACAGTGGAGAAAAG	0.448													7	76					2.7689e-08	3.2887e-08	1	1	0	T	44471408	G	T	44471408	3	4	81	1	0	0	0	0	1	0	0	0	17833	1029	36	4	1768	4	ZNF221	19	44471408	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	52402	44471408	14657575	13711	17327											
ZNF155	7711	broad.mit.edu	37	19	44495784	44495784	+	Nonsense_Mutation	SNP	C	C	T	rs141510834	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:44495784C>T	ENST00000270014.2	+	3	228	c.100C>T	c.(100-102)Cga>Tga	p.R34*	ZNF155_ENST00000407951.2_Nonsense_Mutation_p.R45*|ZNF155_ENST00000590615.1_Nonsense_Mutation_p.R34*	NM_001260487.1|NM_198089.2	NP_001247416|NP_932355	Q12901	ZN155_HUMAN	zinc finger protein 155	34	KRAB.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	15		Prostate(69;0.0352)				GAAGCTGTACCGAGATGTGAT	0.542													46	93					0	0	1	0	0	T	44495784	C	T	44495784	4	4	81	1	0	0	0	0	0	1	0	0	17794	644	23	1	106	1	ZNF155	19	44495784	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	24376	44495784	14633199	13712	17328											
ZNF230	7773	broad.mit.edu	37	19	44515547	44515547	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:44515547C>A	ENST00000429154.2	+	5	1584	c.1356C>A	c.(1354-1356)gaC>gaA	p.D452E		NM_006300.3	NP_006291.2	Q9UIE0	ZN230_HUMAN	zinc finger protein 230	452					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(10)|skin(1)|stomach(3)|urinary_tract(2)	22		Prostate(69;0.0352)				AATGTGAGGACTGTGGGAAGC	0.378													19	42					1.64113e-05	1.8403e-05	1	1	0	A	44515547	C	A	44515547	3	1	81	1	0	0	0	0	1	0	0	0	17842	564	20	4	1370	4	ZNF230	19	44515547	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	19763	44515547	14613436	13713	17329											
ZNF223	7766	broad.mit.edu	37	19	44531552	44531552	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:44531552C>T	ENST00000591793.1	+	3	255	c.172C>T	c.(172-174)Cat>Tat	p.H58Y	ZNF222_ENST00000590160.1_3'UTR|ZNF222_ENST00000391960.3_Missense_Mutation_p.H58Y|ZNF222_ENST00000587846.1_Missense_Mutation_p.H58Y|ZNF222_ENST00000187879.8_Intron			Q9UK11	ZN223_HUMAN	zinc finger protein 223	49	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18		Prostate(69;0.0352)				GTTCACAGGGCATCAACCATT	0.423													17	29					0	0	1	0	0	T	44531552	C	T	44531552	3	4	81	1	0	0	0	0	1	0	0	0	17835	710	25	2		2	ZNF223	19	44531552	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	16005	44531552	14597431	13714	17330											
ZNF222	7673	broad.mit.edu	37	19	44536092	44536092	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:44536092A>T	ENST00000187879.8	+	4	427	c.265A>T	c.(265-267)Agt>Tgt	p.S89C	ZNF222_ENST00000391960.3_Missense_Mutation_p.S129C|ZNF223_ENST00000591793.1_Intron	NM_013360.2	NP_037492.2	Q9UK12	ZN222_HUMAN	zinc finger protein 222	89					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(7)|lung(6)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20		Prostate(69;0.0435)				TACCACCATAAGTAACTCTCA	0.403													42	53					0	0	1	0	0	T	44536092	A	T	44536092	3	4	81	1	0	0	0	0	1	0	0	0	17834	72	3	5	418	5	ZNF222	19	44536092	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	4540	44536092	14592891	13715	17331											
ZNF234	10780	broad.mit.edu	37	19	44661185	44661185	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:44661185C>T	ENST00000426739.2	+	6	1274	c.1016C>T	c.(1015-1017)aCa>aTa	p.T339I	ZNF234_ENST00000592437.1_Missense_Mutation_p.T339I	NM_006630.2	NP_006621.1	Q14588	ZN234_HUMAN	zinc finger protein 234	339					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)	23		Prostate(69;0.0435)				AGGGTCCACACAGGAGAGAAA	0.448													7	46					0	0	1	0	0	T	44661185	C	T	44661185	3	4	81	1	0	0	0	0	1	0	0	0	17845	478	17	2	1030	2	ZNF234	19	44661185	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	125093	44661185	14467798	13716	17332											
ZNF234	10780	broad.mit.edu	37	19	44661371	44661371	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:44661371A>G	ENST00000426739.2	+	6	1460	c.1202A>G	c.(1201-1203)aAa>aGa	p.K401R	ZNF234_ENST00000592437.1_Missense_Mutation_p.K401R	NM_006630.2	NP_006621.1	Q14588	ZN234_HUMAN	zinc finger protein 234	401					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)	23		Prostate(69;0.0435)				AAGCCATACAAATGCAATGAG	0.423													3	26					0	0	1	0	0	G	44661371	A	G	44661371	3	3	81	1	0	0	0	0	1	0	0	0	17845	14	1	3	1216	3	ZNF234	19	44661371	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	186	44661371	14467612	13717	17333											
ZNF234	10780	broad.mit.edu	37	19	44661424	44661424	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:44661424C>A	ENST00000426739.2	+	6	1513	c.1255C>A	c.(1255-1257)Ctg>Atg	p.L419M	ZNF234_ENST00000592437.1_Missense_Mutation_p.L419M	NM_006630.2	NP_006621.1	Q14588	ZN234_HUMAN	zinc finger protein 234	419					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)	23		Prostate(69;0.0435)				TCAAGTGCATCTGGTAGTCCA	0.418													8	22					5.18039e-06	5.88187e-06	1	1	0	A	44661424	C	A	44661424	3	1	81	1	0	0	0	0	1	0	0	0	17845	912	32	4	1269	4	ZNF234	19	44661424	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	53	44661424	14467559	13718	17334											
ZNF226	7769	broad.mit.edu	37	19	44679883	44679883	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:44679883C>T	ENST00000590089.1	+	7	835	c.468C>T	c.(466-468)ccC>ccT	p.P156P	ZNF226_ENST00000337433.5_Silent_p.P156P|ZNF226_ENST00000588883.1_3'UTR|ZNF226_ENST00000454662.2_Silent_p.P156P			Q9NYT6	ZN226_HUMAN	zinc finger protein 226	156					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						Prostate(69;0.0352)|all_neural(266;0.202)				CAGATGGTCCCAATAATACTG	0.398													9	13					0	0	1	0	0	T	44679883	C	T	44679883	2	4	81	1	0	0	0	0	0	0	0	1	17838	581	21	2		2	ZNF226	19	44679883	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	18459	44679883	14449100	13719	17335											
ZNF226	7769	broad.mit.edu	37	19	44680813	44680813	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:44680813G>T	ENST00000590089.1	+	7	1765	c.1398G>T	c.(1396-1398)caG>caT	p.Q466H	ZNF226_ENST00000337433.5_Missense_Mutation_p.Q466H|ZNF226_ENST00000588883.1_3'UTR|ZNF226_ENST00000454662.2_Missense_Mutation_p.Q466H			Q9NYT6	ZN226_HUMAN	zinc finger protein 226	466					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						Prostate(69;0.0352)|all_neural(266;0.202)				AGGCCCATCAGGGAGTTCACA	0.443													7	55					5.18039e-06	5.88187e-06	1	1	0	T	44680813	G	T	44680813	3	4	81	1	0	0	0	0	1	0	0	0	17838	991	35	4	1466	4	ZNF226	19	44680813	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	930	44680813	14448170	13720	17336											
ZNF235	9310	broad.mit.edu	37	19	44793311	44793311	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:44793311C>A	ENST00000291182.4	-	5	379	c.277G>T	c.(277-279)Gca>Tca	p.A93S	ZNF235_ENST00000589799.1_Intron|ZNF235_ENST00000589248.1_Intron	NM_004234.4	NP_004225.3	Q14590	ZN235_HUMAN	zinc finger protein 235	93					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29		Prostate(69;0.0352)|all_neural(266;0.116)				CTTAATCCTGCTTTGTGAAGA	0.403													35	41					4.65686e-17	5.99349e-17	1	1	0	A	44793311	C	A	44793311	3	1	81	1	0	0	0	0	1	0	0	0	17846	797	28	4	1943	4	ZNF235	19	44793311	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	112498	44793311	14335672	13721	17337											
ZNF235	9310	broad.mit.edu	37	19	44803800	44803800	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:44803800C>T	ENST00000291182.4	-	3	203	c.101G>A	c.(100-102)cGa>cAa	p.R34Q	ZNF235_ENST00000589799.1_Missense_Mutation_p.R34Q|ZNF235_ENST00000589248.1_Missense_Mutation_p.R34Q	NM_004234.4	NP_004225.3	Q14590	ZN235_HUMAN	zinc finger protein 235	34	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29		Prostate(69;0.0352)|all_neural(266;0.116)				CATCACATCTCGGTACAGCTT	0.527													51	81					0	0	1	0	0	T	44803800	C	T	44803800	3	4	81	1	0	0	0	0	1	0	0	0	17846	884	31	1	2127	1	ZNF235	19	44803800	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	10489	44803800	14325183	13722	17338											
ZNF285	26974	broad.mit.edu	37	19	44891167	44891167	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:44891167C>T	ENST00000330997.4	-	4	1304	c.1240G>A	c.(1240-1242)Gtt>Att	p.V414I	CTC-512J12.6_ENST00000588212.1_Intron|ZNF285_ENST00000544719.2_Missense_Mutation_p.V414I|ZNF285_ENST00000591679.1_Missense_Mutation_p.V421I	NM_152354.3	NP_689567.3			zinc finger protein 285											breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						ACTTGAAGAACGGAGCTTGAA	0.488													21	26					0	0	1	0	0	T	44891167	C	T	44891167	3	4	81	1	0	0	0	0	1	0	0	0	17880	536	19	1	536	1	ZNF285	19	44891167	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	87367	44891167	14237816	13723	17339											
ZNF285	26974	broad.mit.edu	37	19	44891353	44891353	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:44891353C>A	ENST00000330997.4	-	4	1118	c.1054G>T	c.(1054-1056)Ggg>Tgg	p.G352W	CTC-512J12.6_ENST00000588212.1_Intron|ZNF285_ENST00000544719.2_Missense_Mutation_p.G352W|ZNF285_ENST00000591679.1_Missense_Mutation_p.G359W	NM_152354.3	NP_689567.3			zinc finger protein 285											breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						AATCCAAACCCTTTCCCACAT	0.478													22	30					0.000295444	0.000320182	1	1	0	A	44891353	C	A	44891353	3	1	81	1	0	0	0	0	1	0	0	0	17880	681	24	4	722	4	ZNF285	19	44891353	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	186	44891353	14237630	13724	17340											
ZNF229	7772	broad.mit.edu	37	19	44933440	44933440	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:44933440C>T	ENST00000291187.4	-	6	1820	c.1498G>A	c.(1498-1500)Gct>Act	p.A500T	CTC-512J12.4_ENST00000588655.1_RNA|ZNF229_ENST00000591289.1_Intron|ZNF229_ENST00000588931.1_Missense_Mutation_p.A506T	NM_001278510.1	NP_001265439.1	Q9UJW7	ZN229_HUMAN	zinc finger protein 229	506					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45		Prostate(69;0.0352)				CTCTGGTGAGCTTGAAGGTAC	0.512													39	68					0	0	1	0	0	T	44933440	C	T	44933440	3	4	81	1	0	0	0	0	1	0	0	0	17840	797	28	2	965	2	ZNF229	19	44933440	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	42087	44933440	14195543	13725	17341											
ZNF229	7772	broad.mit.edu	37	19	44933907	44933907	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:44933907C>A	ENST00000291187.4	-	6	1353	c.1031G>T	c.(1030-1032)aGa>aTa	p.R344I	CTC-512J12.4_ENST00000588655.1_RNA|ZNF229_ENST00000591289.1_Intron|ZNF229_ENST00000588931.1_Missense_Mutation_p.R350I	NM_001278510.1	NP_001265439.1	Q9UJW7	ZN229_HUMAN	zinc finger protein 229	350					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45		Prostate(69;0.0352)				GACATCACATCTATAGGGCAT	0.507													34	49					1.06647e-15	1.36289e-15	1	1	0	A	44933907	C	A	44933907	3	1	81	1	0	0	0	0	1	0	0	0	17840	913	32	4	1432	4	ZNF229	19	44933907	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	467	44933907	14195076	13726	17342											
ZNF180	7733	broad.mit.edu	37	19	44980826	44980826	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:44980826C>A	ENST00000221327.4	-	5	2153	c.1872G>T	c.(1870-1872)caG>caT	p.Q624H	ZNF180_ENST00000592529.1_Missense_Mutation_p.Q597H|ZNF180_ENST00000391956.4_Missense_Mutation_p.Q599H	NM_013256.3	NP_037388.2	Q9UJW8	ZN180_HUMAN	zinc finger protein 180	624					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(6)|ovary(2)|urinary_tract(1)	33		Prostate(69;0.0435)				TATGAGTTCTCTGATGTTGAG	0.403													12	104					5.50884e-06	6.24461e-06	1	1	0	A	44980826	C	A	44980826	3	1	81	1	0	0	0	0	1	0	0	0	17806	912	32	4	210	4	ZNF180	19	44980826	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	46919	44980826	14148157	13727	17343											
CEACAM16	388551	broad.mit.edu	37	19	45209106	45209106	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:45209106C>A	ENST00000587331.1	+	5	1123	c.908C>A	c.(907-909)tCt>tAt	p.S303Y	CEACAM16_ENST00000405314.2_Missense_Mutation_p.S303Y|CTB-171A8.1_ENST00000590796.1_RNA	NM_001039213.2	NP_001034302.2	A7LI12	A7LI12_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 16	303										endometrium(3)|large_intestine(2)|lung(3)|ovary(1)	9	Lung NSC(12;0.000698)|all_lung(12;0.002)	Prostate(69;0.0376)|Ovarian(192;0.231)				ACCCTGCTATCTGGATCTGCC	0.587													28	60					4.74835e-14	6.01385e-14	1	1	0	A	45209106	C	A	45209106	3	1	81	1	0	0	0	0	1	0	0	0	3210	913	32	4	922	4	CEACAM16	19	45209106	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	228280	45209106	13919877	13728	17344											
BCL3	602	broad.mit.edu	37	19	45262778	45262778	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:45262778C>A	ENST00000164227.5	+	9	1515	c.1271C>A	c.(1270-1272)cCt>cAt	p.P424H		NM_005178.4	NP_005169.2	P20749	BCL3_HUMAN	B-cell CLL/lymphoma 3	424	Pro/Ser-rich.				DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|I-kappaB kinase/NF-kappaB cascade|maintenance of protein location in nucleus|negative regulation of apoptosis|negative regulation of interleukin-8 biosynthetic process|negative regulation of transcription, DNA-dependent|positive regulation of translation|protein import into nucleus, translocation|regulation of DNA binding|regulation of NF-kappaB import into nucleus|response to UV-C|response to virus	Bcl3-Bcl10 complex|Bcl3/NF-kappaB2 complex|nucleus|perinuclear region of cytoplasm	protein binding, bridging|transcription factor binding			kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10	Lung NSC(12;0.000698)|all_lung(12;0.002)	Ovarian(192;0.0728)				TTCTTCCTTCCTTCCCCATCT	0.672			T	IGH@	CLL								6	181					0.00116845	0.00124301	1	1	0	A	45262778	C	A	45262778	3	1	81	1	0	0	0	0	1	0	0	0	1373	681	24	4	1305	4	BCL3	19	45262778	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	53672	45262778	13866205	13729	17345											
CBLC	23624	broad.mit.edu	37	19	45296783	45296783	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:45296783A>T	ENST00000270279.3	+	8	1253	c.1190A>T	c.(1189-1191)gAg>gTg	p.E397V	CBLC_ENST00000341505.4_Missense_Mutation_p.E351V	NM_012116.3	NP_036248.3	Q9ULV8	CBLC_HUMAN	Cbl proto-oncogene C, E3 ubiquitin protein ligase	397					cell surface receptor linked signaling pathway|negative regulation of epidermal growth factor receptor activity|negative regulation of MAP kinase activity|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	calcium ion binding|epidermal growth factor receptor binding|phosphotyrosine binding|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|kidney(1)|lung(6)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Lung NSC(12;0.00136)|all_lung(12;0.00371)	Ovarian(192;0.231)				AAGGGCTGGGAGGCCGTGAGT	0.637			M		AML								7	11					0	0	1	0	0	T	45296783	A	T	45296783	3	4	81	1	0	0	0	0	1	0	0	0	2720	304	11	5	1220	5	CBLC	19	45296783	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	34005	45296783	13832200	13730	17346											
BCAM	4059	broad.mit.edu	37	19	45322860	45322860	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:45322860C>A	ENST00000589651.1	+	13	1694	c.1640C>A	c.(1639-1641)gCt>gAt	p.A547D	BCAM_ENST00000270233.6_Missense_Mutation_p.A547D			P50895	BCAM_HUMAN	basal cell adhesion molecule (Lutheran blood group)						cell-matrix adhesion	integral to plasma membrane	laminin binding|laminin receptor activity			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22	Lung NSC(12;0.000789)|all_lung(12;0.00218)	Ovarian(192;0.0728)|all_neural(266;0.112)				ACCTCCCAGGCTGGAGTGGCC	0.687													13	22					0.00185496	0.00197056	1	1	0	A	45322860	C	A	45322860	3	1	81	1	0	0	0	0	1	0	0	0	1342	797	28	4	1690	4	BCAM	19	45322860	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	26077	45322860	13806123	13731	17347											
APOE	348	broad.mit.edu	37	19	45411875	45411875	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:45411875C>T	ENST00000252486.4	+	4	433	c.322C>T	c.(322-324)Cgg>Tgg	p.R108W		NM_000041.2	NP_000032.1	P02649	APOE_HUMAN	apolipoprotein E	108	8 X 22 AA approximate tandem repeats.				anti-apoptosis|Cdc42 protein signal transduction|cell death|cGMP-mediated signaling|cholesterol efflux|cholesterol homeostasis|chylomicron remnant clearance|cytoskeleton organization|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|high-density lipoprotein particle clearance|high-density lipoprotein particle remodeling|induction of apoptosis|intracellular transport|negative regulation of blood vessel endothelial cell migration|negative regulation of cholesterol biosynthetic process|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of platelet activation|nitric oxide mediated signal transduction|phospholipid efflux|positive regulation of cGMP biosynthetic process|positive regulation of cholesterol efflux|positive regulation of cholesterol esterification|positive regulation of low-density lipoprotein particle receptor catabolic process|positive regulation of membrane protein ectodomain proteolysis|positive regulation of nitric-oxide synthase activity|receptor-mediated endocytosis|regulation of axon extension|regulation of neuronal synaptic plasticity|response to reactive oxygen species|reverse cholesterol transport|synaptic transmission, cholinergic|triglyceride metabolic process|very-low-density lipoprotein particle clearance|very-low-density lipoprotein particle remodeling	chylomicron|dendrite|high-density lipoprotein particle|intermediate-density lipoprotein particle|low-density lipoprotein particle|neuronal cell body|very-low-density lipoprotein particle	antioxidant activity|beta-amyloid binding|heparin binding|low-density lipoprotein particle receptor binding|metal chelating activity|phosphatidylcholine-sterol O-acyltransferase activator activity|phospholipid binding|protein heterodimerization activity|protein homodimerization activity|tau protein binding|very-low-density lipoprotein particle receptor binding			large_intestine(1)|lung(2)|prostate(1)	4	Lung NSC(12;0.0018)|all_lung(12;0.00481)	Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00327)|Epithelial(262;0.174)	Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)	GGAGGAGACGCGGGCACGGCT	0.687													5	6					0	0	1	0	0	T	45411875	C	T	45411875	3	4	81	1	0	0	0	0	1	0	0	0	799	759	27	1	332	1	APOE	19	45411875	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	89015	45411875	13717108	13732	17348											
APOC4	346	broad.mit.edu	37	19	45445551	45445551	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:45445551A>T	ENST00000419266.2	+	1	57	c.17A>T	c.(16-18)aAc>aTc	p.N6I	APOC4_ENST00000591600.1_Missense_Mutation_p.N6I|APOC4-APOC2_ENST00000589057.1_Missense_Mutation_p.N6I|APOC4_ENST00000592954.1_Missense_Mutation_p.N6I			P55056	APOC4_HUMAN	apolipoprotein C-IV						lipid metabolic process|positive regulation of sequestering of triglyceride|triglyceride homeostasis	high-density lipoprotein particle|very-low-density lipoprotein particle	lipid transporter activity			breast(1)|endometrium(1)|lung(2)	4	Lung NSC(12;0.00858)|all_lung(12;0.0197)	Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00334)|Epithelial(262;0.178)		CTCCTCAGAAACAGGCTCCAG	0.672													7	5					0	0	1	0	0	T	45445551	A	T	45445551	3	4	81	1	0	0	0	0	1	0	0	0	797	43	2	5	19	5	APOC4	19	45445551	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	33676	45445551	13683432	13733	17349											
GEMIN7	79760	broad.mit.edu	37	19	45593756	45593756	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:45593756C>A	ENST00000270257.4	+	3	631	c.384C>A	c.(382-384)acC>acA	p.T128T	GEMIN7_ENST00000591747.1_Silent_p.T128T|GEMIN7_ENST00000591607.1_Silent_p.T128T|GEMIN7_ENST00000391951.2_Silent_p.T128T	NM_001007269.1|NM_001007270.1|NM_024707.2	NP_001007270.1|NP_001007271.1|NP_078983.1	Q9H840	GEMI7_HUMAN	gem (nuclear organelle) associated protein 7	128					ncRNA metabolic process|spliceosomal snRNP assembly	Cajal body|cytosol|spliceosomal complex	protein binding			endometrium(1)|kidney(1)|lung(4)|ovary(1)	7		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0131)		TTTCATATACCTTCAAGCCAT	0.517													10	19					0.0581538	0.0592525	1	1	0	A	45593756	C	A	45593756	2	1	81	1	0	0	0	0	0	0	0	1	6375	668	24	4		4	GEMIN7	19	45593756	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	148205	45593756	13535227	13734	17350											
MARK4	57787	broad.mit.edu	37	19	45781872	45781872	+	Splice_Site	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:45781872T>C	ENST00000300843.4	+	10	1302	c.1005T>C	c.(1003-1005)atT>atC	p.I335I	MARK4_ENST00000262891.4_Splice_Site_p.I335I	NM_031417.3	NP_113605.2	Q96L34	MARK4_HUMAN	MAP/microtubule affinity-regulating kinase 4	335	UBA.				microtubule bundle formation|nervous system development|positive regulation of programmed cell death	centrosome|neuron projection	ATP binding|gamma-tubulin binding|microtubule binding|protein serine/threonine kinase activity|tau-protein kinase activity|ubiquitin binding			NS(1)|biliary_tract(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	31		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0102)		CCAAGAGAATTGGTGAGGGTC	0.532													7	81					0	0	1	0	0	C	45781872	T	C	45781872	5	2	81	1	0	0	0	0	0	0	1	0	9365	1826	63	3	1043	3	MARK4	19	45781872	Splice_Site	SNP	T	TCGA-DU-6392-01A-11D-1705-08	188116	45781872	13347111	13735	17351											
CKM	1158	broad.mit.edu	37	19	45811737	45811737	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:45811737C>T	ENST00000221476.3	-	6	881	c.707G>A	c.(706-708)cGg>cAg	p.R236Q		NM_001824.4	NP_001815.2	P06732	KCRM_HUMAN	creatine kinase, muscle	236	Phosphagen kinase C-terminal.				creatine metabolic process	cytosol	ATP binding|creatine kinase activity			cervix(1)|endometrium(1)|large_intestine(8)|lung(3)|prostate(2)|skin(2)	17		Ovarian(192;0.0336)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;2.29e-44)|Epithelial(262;1.05e-38)|GBM - Glioblastoma multiforme(486;3.56e-07)	Creatine(DB00148)	GGAGATGACCCGGAGGTGATC	0.587													22	35					0	0	1	0	0	T	45811737	C	T	45811737	3	4	81	1	0	0	0	0	1	0	0	0	3471	652	23	1	450	1	CKM	19	45811737	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	29865	45811737	13317246	13736	17352											
ERCC2	2068	broad.mit.edu	37	19	45856054	45856054	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:45856054C>T	ENST00000391945.4	-	20	1929	c.1852G>A	c.(1852-1854)Gtc>Atc	p.V618I	ERCC2_ENST00000391944.3_Missense_Mutation_p.V540I	NM_000400.3	NP_000391.1	P18074	ERCC2_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 2	618	Mediates interaction with MMS19.				cell cycle checkpoint|chromosome segregation|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|UV protection|viral reproduction	cytoplasm|holo TFIIH complex|MMXD complex	5'-3' DNA helicase activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding|protein C-terminus binding|protein N-terminus binding	p.V618I(1)		large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|stomach(1)	9		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		AACATGATGACGGCCCGCCCG	0.617			"Mis, N, F, S"			"skin basal cell, skin squamous cell, melanoma"		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				13	28					0	0	1	0	0	T	45856054	C	T	45856054	3	4	81	1	0	0	0	0	1	0	0	0	5241	536	19	1	446	1	ERCC2	19	45856054	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	44317	45856054	13272929	13737	17353											
ERCC1	2067	broad.mit.edu	37	19	45923673	45923673	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:45923673C>T	ENST00000300853.3	-	4	925	c.334G>A	c.(334-336)Gta>Ata	p.V112I	ERCC1_ENST00000013807.5_Missense_Mutation_p.V112I|ERCC1_ENST00000591636.1_Missense_Mutation_p.V112I|ERCC1_ENST00000340192.7_Missense_Mutation_p.V112I|ERCC1_ENST00000423698.2_Missense_Mutation_p.V40I|ERCC1_ENST00000589165.1_Missense_Mutation_p.V112I	NM_001983.3	NP_001974.1	P07992	ERCC1_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 1 (includes overlapping antisense sequence)	112					mitotic recombination|negative regulation of telomere maintenance|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|nucleotide-excision repair, DNA incision, 5'-to lesion|response to oxidative stress|transcription-coupled nucleotide-excision repair	cytoplasm|nuclear chromosome, telomeric region|nucleoplasm|nucleotide-excision repair complex	damaged DNA binding|endonuclease activity|protein C-terminus binding|protein domain specific binding|single-stranded DNA binding	p.V112I(2)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|skin(1)	15		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0247)		AACTTCAGTACGGGATTGCCC	0.582								Nucleotide excision repair (NER)					7	11					0	0	1	0	0	T	45923673	C	T	45923673	3	4	81	1	0	0	0	0	1	0	0	0	5240	536	19	1	716	1	ERCC1	19	45923673	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	67619	45923673	13205310	13738	17354											
RTN2	6253	broad.mit.edu	37	19	45988979	45988979	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:45988979G>T	ENST00000590526.1	-	11	1929	c.803C>A	c.(802-804)gCc>gAc	p.A268D	RTN2_ENST00000245923.4_Missense_Mutation_p.A542D|RTN2_ENST00000430715.2_Missense_Mutation_p.A202D|RTN2_ENST00000344680.4_Missense_Mutation_p.A469D			O75298	RTN2_HUMAN	reticulon 2	542						integral to endoplasmic reticulum membrane	signal transducer activity			cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(4)|skin(1)|urinary_tract(1)	20		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00829)|Epithelial(262;0.184)|GBM - Glioblastoma multiforme(486;0.246)		TTCGGCTTTGGCTTTGGATCC	0.652											OREG0025555	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	25	49					1.17739e-12	1.47479e-12	1	1	0	T	45988979	G	T	45988979	3	4	81	1	0	0	0	0	1	0	0	0	13778	1203	42	5	16	5	RTN2	19	45988979	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	65306	45988979	13140004	13739	17355											
GPR4	2828	broad.mit.edu	37	19	46094078	46094078	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:46094078C>A	ENST00000323040.4	-	2	1991	c.1047G>T	c.(1045-1047)caG>caT	p.Q349H	OPA3_ENST00000544371.1_Intron	NM_005282.2	NP_005273.1	P46093	GPR4_HUMAN	G protein-coupled receptor 4	349						integral to plasma membrane	G-protein coupled receptor activity			breast(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;0.0071)|GBM - Glioblastoma multiforme(486;0.128)|Epithelial(262;0.223)		CCTGGTCCCCCTGGGAGGGCG	0.627													7	58					8.12818e-05	8.94031e-05	1	1	0	A	46094078	C	A	46094078	3	1	81	1	0	0	0	0	1	0	0	0	6734	680	24	4	45	4	GPR4	19	46094078	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	105099	46094078	13034905	13740	17356											
EML2	24139	broad.mit.edu	37	19	46142120	46142120	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:46142120T>G	ENST00000536630.1	-	5	611	c.473A>C	c.(472-474)gAa>gCa	p.E158A	EML2_ENST00000587152.1_Missense_Mutation_p.E212A|EML2_ENST00000245925.3_Missense_Mutation_p.E11A|EML2_ENST00000589876.1_Missense_Mutation_p.E11A	NM_001193269.1	NP_001180198.1	O95834	EMAL2_HUMAN	echinoderm microtubule associated protein like 2	11					sensory perception of sound|visual perception	cytoplasm|intracellular membrane-bounded organelle|microtubule|microtubule associated complex	catalytic activity|protein binding			NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|urinary_tract(1)	31		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00553)|GBM - Glioblastoma multiforme(486;0.131)|Epithelial(262;0.197)		GAAGATAACTTCTTTGGTTTT	0.522													26	42					0	0	1	0	0	G	46142120	T	G	46142120	3	3	81	1	0	0	0	0	1	0	0	0	5125	1783	62	5	1989	5	EML2	19	46142120	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	48042	46142120	12986863	13741	17357											
GIPR	2696	broad.mit.edu	37	19	46181440	46181440	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:46181440C>T	ENST00000590918.1	+	12	1207	c.1108C>T	c.(1108-1110)Cgc>Tgc	p.R370C	GIPR_ENST00000304207.8_Missense_Mutation_p.R334C|GIPR_ENST00000263281.3_Missense_Mutation_p.R370C	NM_000164.2	NP_000155.1	P48546	GIPR_HUMAN	gastric inhibitory polypeptide receptor	370				GALRF -> APCV (in Ref. 3; CAA57426).	generation of precursor metabolites and energy|response to nutrient	integral to membrane|plasma membrane				endometrium(1)|kidney(2)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	12		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0056)|GBM - Glioblastoma multiforme(486;0.0832)|Epithelial(262;0.199)		GGGCGCCCTGCGCTTCGCCAA	0.677													5	6					0	0	1	0	0	T	46181440	C	T	46181440	3	4	81	1	0	0	0	0	1	0	0	0	6437	768	27	1	1150	1	GIPR	19	46181440	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	39320	46181440	12947543	13742	17358											
FBXO46	23403	broad.mit.edu	37	19	46215271	46215271	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:46215271C>T	ENST00000317683.3	-	2	1616	c.1483G>A	c.(1483-1485)Gcc>Acc	p.A495T		NM_001080469.1	NP_001073938.1	Q6PJ61	FBX46_HUMAN	F-box protein 46	495	F-box.						protein binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(2)|skin(1)	15		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00568)|GBM - Glioblastoma multiforme(486;0.0844)|Epithelial(262;0.201)		CACTTGAGGGCGGCCAGCGCG	0.652													3	9					0	0	1	0	0	T	46215271	C	T	46215271	3	4	81	1	0	0	0	0	1	0	0	0	5788	768	27	1	332	1	FBXO46	19	46215271	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	33831	46215271	12913712	13743	17359											
FBXO46	23403	broad.mit.edu	37	19	46215959	46215959	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:46215959G>A	ENST00000317683.3	-	2	928	c.795C>T	c.(793-795)atC>atT	p.I265I		NM_001080469.1	NP_001073938.1	Q6PJ61	FBX46_HUMAN	F-box protein 46	265							protein binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(2)|skin(1)	15		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00568)|GBM - Glioblastoma multiforme(486;0.0844)|Epithelial(262;0.201)		GGCCGTTGGAGATGCGGAAGG	0.731													3	18					0	0	1	0	0	A	46215959	G	A	46215959	2	1	81	1	0	0	0	0	0	0	0	1	5788	932	33	2		2	FBXO46	19	46215959	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	688	46215959	12913024	13744	17360											
DMPK	1760	broad.mit.edu	37	19	46280785	46280785	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:46280785G>A	ENST00000600757.1	-	7	1663	c.976C>T	c.(976-978)Cgg>Tgg	p.R326W	DMPK_ENST00000343373.4_Missense_Mutation_p.R326W|DMPK_ENST00000447742.2_Missense_Mutation_p.R316W|DMPK_ENST00000291270.4_Missense_Mutation_p.R316W|DMPK_ENST00000354227.5_Missense_Mutation_p.R316W|DMPK_ENST00000458663.2_Missense_Mutation_p.R316W			Q09013	DMPK_HUMAN	dystrophia myotonica-protein kinase	326	Protein kinase.				regulation of heart contraction		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			endometrium(5)|kidney(1)|large_intestine(1)|lung(6)|stomach(1)|urinary_tract(2)	16		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00616)|GBM - Glioblastoma multiforme(486;0.0825)|Epithelial(262;0.24)		CACAGCAACCGCTGAATGAAG	0.652													27	30					0	0	1	0	0	A	46280785	G	A	46280785	3	1	81	1	0	0	0	0	1	0	0	0	4612	1086	38	1	982	1	DMPK	19	46280785	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	64826	46280785	12848198	13745	17361											
DMWD	1762	broad.mit.edu	37	19	46289657	46289657	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:46289657C>A	ENST00000270223.6	-	3	1142	c.1097G>T	c.(1096-1098)gGc>gTc	p.G366V	DMWD_ENST00000377735.3_Missense_Mutation_p.G366V	NM_004943.1	NP_004934.1	Q09019	DMWD_HUMAN	dystrophia myotonica, WD repeat containing	366					meiosis					central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	16		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00604)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.236)		GGACTTGTGGCCATGGCCTCG	0.672													28	41					3.73148e-12	4.65439e-12	1	1	0	A	46289657	C	A	46289657	3	1	81	1	0	0	0	0	1	0	0	0	4621	739	26	5	939	5	DMWD	19	46289657	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	8872	46289657	12839326	13746	17362											
SYMPK	8189	broad.mit.edu	37	19	46331149	46331149	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:46331149C>T	ENST00000245934.7	-	15	2257	c.2013G>A	c.(2011-2013)gcG>gcA	p.A671A		NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN	symplekin	671					cell adhesion|mRNA processing	cytoplasm|cytoskeleton|nucleoplasm|tight junction	protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		TGATGAGTGGCGCCTCCAGCA	0.647													42	80					0	0	1	0	0	T	46331149	C	T	46331149	2	4	81	1	0	0	0	0	0	0	0	1	15496	755	27	1		1	SYMPK	19	46331149	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	41492	46331149	12797834	13747	17363											
SYMPK	8189	broad.mit.edu	37	19	46345528	46345528	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:46345528G>A	ENST00000245934.7	-	9	1311	c.1067C>T	c.(1066-1068)aCa>aTa	p.T356I		NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN	symplekin	356					cell adhesion|mRNA processing	cytoplasm|cytoskeleton|nucleoplasm|tight junction	protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		CTTCTTGAGTGTGGAGTCCGA	0.572													24	46					0	0	1	0	0	A	46345528	G	A	46345528	3	1	81	1	0	0	0	0	1	0	0	0	15496	1377	48	2	2833	2	SYMPK	19	46345528	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	14379	46345528	12783455	13748	17364											
SYMPK	8189	broad.mit.edu	37	19	46351106	46351106	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:46351106G>T	ENST00000245934.7	-	7	824	c.580C>A	c.(580-582)Ctg>Atg	p.L194M		NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN	symplekin	194					cell adhesion|mRNA processing	cytoplasm|cytoskeleton|nucleoplasm|tight junction	protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		CGGGGTGACAGGGTGACAATG	0.582													6	25					0.00116845	0.00124301	1	1	0	T	46351106	G	T	46351106	3	4	81	1	0	0	0	0	1	0	0	0	15496	991	35	4	3328	4	SYMPK	19	46351106	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	5578	46351106	12777877	13749	17365											
IRF2BP1	26145	broad.mit.edu	37	19	46387584	46387584	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:46387584G>A	ENST00000302165.3	-	1	1792	c.1449C>T	c.(1447-1449)gcC>gcT	p.A483A		NM_015649.1	NP_056464.1	Q8IU81	I2BP1_HUMAN	interferon regulatory factor 2 binding protein 1	483					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				cervix(1)|kidney(1)|lung(2)	4		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00442)|GBM - Glioblastoma multiforme(486;0.0402)|Epithelial(262;0.231)		TGACAGCTTCGGCCCCCGCTG	0.716													6	14					0	0	1	0	0	A	46387584	G	A	46387584	2	1	81	1	0	0	0	0	0	0	0	1	7873	1103	39	1		1	IRF2BP1	19	46387584	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	36478	46387584	12741399	13750	17366											
NANOS2	339345	broad.mit.edu	37	19	46417658	46417658	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:46417658A>G	ENST00000341294.2	-	1	378	c.294T>C	c.(292-294)tgT>tgC	p.C98C		NM_001029861.2	NP_001025032.1	P60321	NANO2_HUMAN	nanos homolog 2 (Drosophila)	98					germ-line stem cell maintenance|mRNA catabolic process|multicellular organismal development|negative regulation of meiosis|regulation of translation|spermatogenesis	cytoplasmic mRNA processing body|perinuclear region of cytoplasm	RNA binding|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)	6		Ovarian(192;0.0308)|all_neural(266;0.0476)		OV - Ovarian serous cystadenocarcinoma(262;0.00442)|GBM - Glioblastoma multiforme(486;0.0668)|Epithelial(262;0.231)		CGCACACGGGACACACGTAGT	0.652													4	23					0	0	1	0	0	G	46417658	A	G	46417658	2	3	81	1	0	0	0	0	0	0	0	1	10200	273	10	3		3	NANOS2	19	46417658	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	30074	46417658	12711325	13751	17367											
NANOS2	339345	broad.mit.edu	37	19	46417729	46417729	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:46417729C>T	ENST00000341294.2	-	1	307	c.223G>A	c.(223-225)Gtc>Atc	p.V75I		NM_001029861.2	NP_001025032.1	P60321	NANO2_HUMAN	nanos homolog 2 (Drosophila)	75					germ-line stem cell maintenance|mRNA catabolic process|multicellular organismal development|negative regulation of meiosis|regulation of translation|spermatogenesis	cytoplasmic mRNA processing body|perinuclear region of cytoplasm	RNA binding|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)	6		Ovarian(192;0.0308)|all_neural(266;0.0476)		OV - Ovarian serous cystadenocarcinoma(262;0.00442)|GBM - Glioblastoma multiforme(486;0.0668)|Epithelial(262;0.231)		GAGGAGTAGACGTGGCGGGAC	0.687													7	19					0	0	1	0	0	T	46417729	C	T	46417729	3	4	81	1	0	0	0	0	1	0	0	0	10200	536	19	1	197	1	NANOS2	19	46417729	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	71	46417729	12711254	13752	17368											
IGFL3	388555	broad.mit.edu	37	19	46627142	46627142	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:46627142C>T	ENST00000341415.2	-	3	375		c.e3+1		AC007193.6_ENST00000597989.1_lincRNA	NM_207393.1	NP_997276.1	Q6UXB1	IGFL3_HUMAN	IGF-like family member 3							extracellular region	protein binding			endometrium(1)|large_intestine(1)|lung(5)	7		Ovarian(192;0.0175)|all_neural(266;0.0476)		OV - Ovarian serous cystadenocarcinoma(262;0.00473)|GBM - Glioblastoma multiforme(486;0.0149)|Epithelial(262;0.239)		GGGACCTTTACCTGGTACAGC	0.498													18	296					0	0	1	0	0	T	46627142	C	T	46627142	5	4	81	1	0	0	0	0	0	0	1	0	7632	521	18	2	34	2	IGFL3	19	46627142	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	209413	46627142	12501841	13753	17369											
HIF3A	64344	broad.mit.edu	37	19	46815864	46815864	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:46815864C>T	ENST00000339613.2	+	8	1066	c.811C>T	c.(811-813)Cgg>Tgg	p.R271W	HIF3A_ENST00000600383.1_Missense_Mutation_p.R258W|HIF3A_ENST00000377670.4_Missense_Mutation_p.R327W|HIF3A_ENST00000300862.3_Missense_Mutation_p.R325W|HIF3A_ENST00000472815.1_Missense_Mutation_p.R258W|HIF3A_ENST00000244303.6_Missense_Mutation_p.R258W|HIF3A_ENST00000420102.2_Missense_Mutation_p.R276W			Q9Y2N7	HIF3A_HUMAN	hypoxia inducible factor 3, alpha subunit	327	PAS 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	33		Ovarian(192;0.00965)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)		GTCAGGGGGACGGGGCCCCCA	0.617													42	56					0	0	1	0	0	T	46815864	C	T	46815864	3	4	81	1	0	0	0	0	1	0	0	0	7146	527	19	1	1033	1	HIF3A	19	46815864	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	188722	46815864	12313119	13754	17370											
PRKD2	25865	broad.mit.edu	37	19	47193909	47193909	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:47193909C>T	ENST00000433867.1	-	14	2234	c.1757G>A	c.(1756-1758)cGc>cAc	p.R586H	PRKD2_ENST00000595515.1_Missense_Mutation_p.R586H|PRKD2_ENST00000601806.1_Missense_Mutation_p.R429H|PRKD2_ENST00000291281.4_Missense_Mutation_p.R586H|PRKD2_ENST00000600194.1_Missense_Mutation_p.R429H	NM_001079880.1|NM_001079881.1|NM_016457.4	NP_001073349|NP_001073350|NP_057541	Q9BZL6	KPCD2_HUMAN	protein kinase D2	586	Protein kinase.				cell death|intracellular signal transduction|positive regulation of transcription from RNA polymerase II promoter|protein autophosphorylation|T cell receptor signaling pathway	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein kinase C activity			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	41		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353)		GGTAGGGAAGCGCAGTTTGTC	0.562													15	41					0	0	1	0	0	T	47193909	C	T	47193909	3	4	81	1	0	0	0	0	1	0	0	0	12571	768	27	1	903	1	PRKD2	19	47193909	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	378045	47193909	11935074	13755	17371											
STRN4	29888	broad.mit.edu	37	19	47228077	47228077	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:47228077G>T	ENST00000391910.3	-	12	2052	c.1602C>A	c.(1600-1602)ccC>ccA	p.P534P	STRN4_ENST00000594357.2_5'UTR|STRN4_ENST00000263280.6_Silent_p.P527P|STRN4_ENST00000539396.1_Silent_p.P408P			Q9NRL3	STRN4_HUMAN	striatin, calmodulin binding protein 4	527						cytoplasm|membrane	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000563)|all cancers(93;0.00138)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.035)		AGCCATCATAGGGATCCATGC	0.597													12	15					0.010729	0.0111384	1	1	0	T	47228077	G	T	47228077	2	4	81	1	0	0	0	0	0	0	0	1	15387	987	35	4		4	STRN4	19	47228077	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	34168	47228077	11900906	13756	17372											
STRN4	29888	broad.mit.edu	37	19	47228890	47228890	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:47228890C>A	ENST00000391910.3	-	10	1735	c.1285G>T	c.(1285-1287)Gat>Tat	p.D429Y	STRN4_ENST00000594357.2_5'UTR|STRN4_ENST00000263280.6_Missense_Mutation_p.D422Y|STRN4_ENST00000539396.1_Missense_Mutation_p.D303Y			Q9NRL3	STRN4_HUMAN	striatin, calmodulin binding protein 4	422						cytoplasm|membrane	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000563)|all cancers(93;0.00138)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.035)		TTAAAAGCATCTTTGCTGTCA	0.602													10	28					0.000978159	0.00104673	1	1	0	A	47228890	C	A	47228890	3	1	81	1	0	0	0	0	1	0	0	0	15387	913	32	4	1029	4	STRN4	19	47228890	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	813	47228890	11900093	13757	17373											
ARHGAP35	2909	broad.mit.edu	37	19	47422504	47422505	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:47422504_47422505insA	ENST00000404338.3	+	1	572_573	c.572_573insA	c.(571-576)acaaaafs	p.TK191fs		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	191					axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity										CTTGCAAAAACAAAAAAGCCCA	0.426													29	53	---	---	---	---						A	47422505	-	A	47422504	7	5	81	1	0	1	1	0	0	0	0	0	6836	478	17	0	574	0	ARHGAP35	19	47422504	Frame_Shift_Ins	INS	-	TCGA-DU-6392-01A-11D-1705-08	193614	47422504	11706479	13758	17374											
ARHGAP35	2909	broad.mit.edu	37	19	47423806	47423806	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:47423806A>T	ENST00000404338.3	+	1	1874	c.1874A>T	c.(1873-1875)aAg>aTg	p.K625M		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	625					axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity										AATGATGACAAGTATGTGATA	0.453													8	140					0	0	1	0	0	T	47423806	A	T	47423806	3	4	81	1	0	0	0	0	1	0	0	0	6836	72	3	5	1876	5	ARHGAP35	19	47423806	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	1302	47423806	11705177	13759	17375											
ARHGAP35	2909	broad.mit.edu	37	19	47424716	47424716	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:47424716G>T	ENST00000404338.3	+	1	2784	c.2784G>T	c.(2782-2784)caG>caT	p.Q928H		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	928					axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity										GCCAACCCCAGCATAAACTTG	0.443													8	85					1.12685e-05	1.27052e-05	1	1	0	T	47424716	G	T	47424716	3	4	81	1	0	0	0	0	1	0	0	0	6836	962	34	4	2786	4	ARHGAP35	19	47424716	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	910	47424716	11704267	13760	17376											
ZC3H4	23211	broad.mit.edu	37	19	47572365	47572365	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:47572365G>A	ENST00000253048.5	-	14	2419	c.2382C>T	c.(2380-2382)gaC>gaT	p.D794D	ZC3H4_ENST00000594019.1_Intron	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	794							nucleic acid binding|zinc ion binding			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		CATTCTCCCGGTCCTGCTTGC	0.687													51	85					0	0	1	0	0	A	47572365	G	A	47572365	2	1	81	1	0	0	0	0	0	0	0	1	17629	1252	44	2		2	ZC3H4	19	47572365	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	147649	47572365	11556618	13761	17377											
ZC3H4	23211	broad.mit.edu	37	19	47572495	47572495	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:47572495C>T	ENST00000253048.5	-	14	2289	c.2252G>A	c.(2251-2253)cGg>cAg	p.R751Q	ZC3H4_ENST00000594019.1_Intron	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	751							nucleic acid binding|zinc ion binding			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		TGGCTTCGGCCGGCCTGGGGG	0.677													18	16					0	0	1	0	0	T	47572495	C	T	47572495	3	4	81	1	0	0	0	0	1	0	0	0	17629	652	23	1	1667	1	ZC3H4	19	47572495	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	130	47572495	11556488	13762	17378											
ZC3H4	23211	broad.mit.edu	37	19	47575268	47575268	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:47575268G>A	ENST00000253048.5	-	13	1950	c.1913C>T	c.(1912-1914)cCg>cTg	p.P638L	ZC3H4_ENST00000594019.1_Intron	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	638	Pro-rich.						nucleic acid binding|zinc ion binding			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		gtgcatgtccgggtgcatgtc	0.672													6	2					0	0	1	0	0	A	47575268	G	A	47575268	3	1	81	1	0	0	0	0	1	0	0	0	17629	1116	39	1	2010	1	ZC3H4	19	47575268	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2773	47575268	11553715	13763	17379											
DHX34	9704	broad.mit.edu	37	19	47865951	47865951	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:47865951G>A	ENST00000328771.4	+	6	1942		c.e6+1		DHX34_ENST00000471451.1_Intron	NM_014681.5	NP_055496.2	Q14147	DHX34_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 34							intracellular	ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)		GGTGCTGCAGGTGAGGCATGG	0.502													3	19					0	0	1	0	0	A	47865951	G	A	47865951	5	1	81	1	0	0	0	0	0	0	1	0	4535	1275	44	2	1612	2	DHX34	19	47865951	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	290683	47865951	11263032	13764	17380											
DHX34	9704	broad.mit.edu	37	19	47879311	47879311	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:47879311C>T	ENST00000328771.4	+	11	2787	c.2438C>T	c.(2437-2439)gCc>gTc	p.A813V		NM_014681.5	NP_055496.2	Q14147	DHX34_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 34	813						intracellular	ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)		CCACAGCTGGCCGTCCCCGAC	0.657													13	25					0	0	1	0	0	T	47879311	C	T	47879311	3	4	81	1	0	0	0	0	1	0	0	0	4535	739	26	2	2476	2	DHX34	19	47879311	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	13360	47879311	11249672	13765	17381											
MEIS3	56917	broad.mit.edu	37	19	47920151	47920151	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:47920151G>A	ENST00000331559.5	-	3	696	c.255C>T	c.(253-255)gaC>gaT	p.D85D	MEIS3_ENST00000561096.1_Silent_p.D173D|MEIS3_ENST00000559524.1_Silent_p.D85D|MEIS3_ENST00000441740.2_Silent_p.D85D|MEIS3_ENST00000561293.1_Silent_p.D85D|MEIS3_ENST00000558555.1_Silent_p.D85D	NM_020160.2	NP_064545.1	Q99687	MEIS3_HUMAN	Meis homeobox 3	85						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|large_intestine(5)|lung(11)|prostate(1)|skin(2)	20		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;0.000198)|OV - Ovarian serous cystadenocarcinoma(262;0.000439)|Epithelial(262;0.0113)|GBM - Glioblastoma multiforme(486;0.0223)		CTCCGGCCCCGTCACGGGGAG	0.617													8	8					0	0	1	0	0	A	47920151	G	A	47920151	2	1	81	1	0	0	0	0	0	0	0	1	9519	1136	40	1		1	MEIS3	19	47920151	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	40840	47920151	11208832	13766	17382											
SLC8A2	6543	broad.mit.edu	37	19	47940750	47940750	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:47940750C>T	ENST00000236877.6	-	8	2474	c.2079G>A	c.(2077-2079)gaG>gaA	p.E693E	SLC8A2_ENST00000601757.1_5'UTR|SLC8A2_ENST00000542837.1_Silent_p.E449E|SLC8A2_ENST00000539381.1_Silent_p.E156E	NM_015063.2	NP_055878.1	Q9UPR5	NAC2_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 2	693					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1)	31		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)		CTAAAAACTGCTCCCTCCATG	0.517													31	44					0	0	1	0	0	T	47940750	C	T	47940750	2	4	81	1	0	0	0	0	0	0	0	1	14762	796	28	2		2	SLC8A2	19	47940750	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	20599	47940750	11188233	13767	17383											
SLC8A2	6543	broad.mit.edu	37	19	47960708	47960708	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:47960708C>T	ENST00000236877.6	-	3	1214	c.819G>A	c.(817-819)gaG>gaA	p.E273E	SLC8A2_ENST00000542837.1_Silent_p.E29E|SLC8A2_ENST00000539381.1_Intron	NM_015063.2	NP_055878.1	Q9UPR5	NAC2_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 2	273					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1)	31		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)		GGGGGTCGCCCTCGGCGCCTA	0.701													6	3					0	0	1	0	0	T	47960708	C	T	47960708	2	4	81	1	0	0	0	0	0	0	0	1	14762	680	24	2		2	SLC8A2	19	47960708	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	19958	47960708	11168275	13768	17384											
SLC8A2	6543	broad.mit.edu	37	19	47969296	47969296	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:47969296C>T	ENST00000236877.6	-	2	760	c.365G>A	c.(364-366)cGc>cAc	p.R122H	SLC8A2_ENST00000542837.1_Intron|SLC8A2_ENST00000539381.1_Intron	NM_015063.2	NP_055878.1	Q9UPR5	NAC2_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 2	122					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1)	31		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)		ATTCCAGATGCGAACGGTGCC	0.587													8	28					0	0	1	0	0	T	47969296	C	T	47969296	3	4	81	1	0	0	0	0	1	0	0	0	14762	768	27	1	2436	1	SLC8A2	19	47969296	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	8588	47969296	11159687	13769	17385											
SLC8A2	6543	broad.mit.edu	37	19	47969326	47969326	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:47969326G>A	ENST00000236877.6	-	2	730	c.335C>T	c.(334-336)gCc>gTc	p.A112V	SLC8A2_ENST00000542837.1_Intron|SLC8A2_ENST00000539381.1_Intron	NM_015063.2	NP_055878.1	Q9UPR5	NAC2_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 2	112					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1)	31		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)		CTCACCGTTGGCCTTGGTGAT	0.577													23	24					0	0	1	0	0	A	47969326	G	A	47969326	3	1	81	1	0	0	0	0	1	0	0	0	14762	1203	42	2	2466	2	SLC8A2	19	47969326	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	30	47969326	11159657	13770	17386											
KPTN	11133	broad.mit.edu	37	19	47986473	47986473	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:47986473C>A	ENST00000338134.3	-	4	502		c.e4-1		KPTN_ENST00000536339.1_Splice_Site|KPTN_ENST00000595484.1_Splice_Site	NM_007059.2	NP_008990.2	Q9Y664	KPTN_HUMAN	kaptin (actin binding protein)						actin filament organization|cellular component movement|sensory perception of sound	actin cytoskeleton|growth cone|microtubule organizing center|nucleus|perinuclear region of cytoplasm|stereocilium	actin binding			breast(1)|lung(3)|ovary(2)|pancreas(2)	8		all_cancers(25;1.55e-10)|all_epithelial(76;3.4e-08)|all_lung(116;1.73e-07)|Lung NSC(112;3.95e-07)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		OV - Ovarian serous cystadenocarcinoma(262;0.000428)|all cancers(93;0.000631)|Epithelial(262;0.0153)|GBM - Glioblastoma multiforme(486;0.0694)		AGGCAGCTCTCTGTAGGCAGG	0.602													51	124					4.86159e-25	6.42726e-25	1	1	0	A	47986473	C	A	47986473	5	1	81	1	0	0	0	0	0	0	1	0	8480	927	32	4	952	4	KPTN	19	47986473	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	17147	47986473	11142510	13771	17387											
TPRX1	284355	broad.mit.edu	37	19	48305146	48305146	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:48305146C>A	ENST00000535759.1	-	4	1412	c.1413G>T	c.(1411-1413)caG>caT	p.Q471H	TPRX1_ENST00000543508.1_Missense_Mutation_p.Q364H|TPRX1_ENST00000322175.3_Missense_Mutation_p.Q374H			Q8N7U7	TPRX1_HUMAN	tetra-peptide repeat homeobox 1	374						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(5)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|skin(1)	18		all_cancers(25;3.02e-09)|all_epithelial(76;7e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)		OV - Ovarian serous cystadenocarcinoma(262;0.000241)|all cancers(93;0.00036)|Epithelial(262;0.0127)|GBM - Glioblastoma multiforme(486;0.048)		CTTCTTGGTACTGAGAGGTCA	0.537													5	113					0.00116845	0.00124301	1	1	0	A	48305146	C	A	48305146	3	1	81	1	0	0	0	0	1	0	0	0	16483	564	20	4	117	4	TPRX1	19	48305146	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	318673	48305146	10823837	13772	17388											
SULT2A1	6822	broad.mit.edu	37	19	48389406	48389406	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:48389406C>T	ENST00000222002.3	-	1	248	c.109G>A	c.(109-111)Gta>Ata	p.V37I		NM_003167.3	NP_003158.2	Q06520	ST2A1_HUMAN	sulfotransferase family, cytosolic, 2A, dehydroepiandrosterone (DHEA)-preferring, member 1	37					3'-phosphoadenosine 5'-phosphosulfate metabolic process|bile acid catabolic process|cellular lipid metabolic process|digestion|sulfation|xenobiotic metabolic process	cytosol	bile-salt sulfotransferase activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)	20		all_cancers(25;3.02e-09)|all_lung(116;6.48e-07)|all_epithelial(76;7.35e-07)|Lung NSC(112;1.56e-06)|all_neural(266;0.0146)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000254)|all cancers(93;0.000545)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.0552)		AATATTATTACATCTTCATCC	0.413													14	197					0	0	1	0	0	T	48389406	C	T	48389406	3	4	81	1	0	0	0	0	1	0	0	0	15437	478	17	2	772	2	SULT2A1	19	48389406	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	84260	48389406	10739577	13773	17389											
SULT2A1	6822	broad.mit.edu	37	19	48389603	48389603	+	Translation_Start_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:48389603G>T	ENST00000222002.3	-	0	51					NM_003167.3	NP_003158.2	Q06520	ST2A1_HUMAN	sulfotransferase family, cytosolic, 2A, dehydroepiandrosterone (DHEA)-preferring, member 1						3'-phosphoadenosine 5'-phosphosulfate metabolic process|bile acid catabolic process|cellular lipid metabolic process|digestion|sulfation|xenobiotic metabolic process	cytosol	bile-salt sulfotransferase activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)	20		all_cancers(25;3.02e-09)|all_lung(116;6.48e-07)|all_epithelial(76;7.35e-07)|Lung NSC(112;1.56e-06)|all_neural(266;0.0146)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000254)|all cancers(93;0.000545)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.0552)		AGCTTTTACAGCAAGGATAAA	0.453													11	17					9.70103e-10	1.17698e-09	1	1	0	T	48389603	G	T	48389603	1	4	81	1	0	0	0	0	0	0	0	0	15437	986	34	4		4	SULT2A1	19	48389603	Translation_Start_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	197	48389603	10739380	13774	17390											
CABP5	56344	broad.mit.edu	37	19	48543905	48543905	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:48543905C>T	ENST00000293255.2	-	3	325	c.195G>A	c.(193-195)acG>acA	p.T65T		NM_019855.4	NP_062829.1	Q9NP86	CABP5_HUMAN	calcium binding protein 5	65	EF-hand 2.		T -> R (in dbSNP:rs34862923).		signal transduction	cytoplasm	calcium ion binding			endometrium(1)|large_intestine(3)|lung(3)|prostate(2)|skin(2)	11		all_cancers(25;1.86e-08)|all_lung(116;1.14e-06)|all_epithelial(76;1.16e-06)|Lung NSC(112;2.54e-06)|all_neural(266;0.0138)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;4.09e-05)|all cancers(93;0.000322)|Epithelial(262;0.01)|GBM - Glioblastoma multiforme(486;0.058)		GTTCCATCTCCGTGGGCATGT	0.537													22	41					0	0	1	0	0	T	48543905	C	T	48543905	2	4	81	1	0	0	0	0	0	0	0	1	2552	639	23	1		1	CABP5	19	48543905	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	154302	48543905	10585078	13775	17391											
PLA2G4C	8605	broad.mit.edu	37	19	48556297	48556297	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:48556297C>A	ENST00000354276.3	-	16	1864	c.1537G>T	c.(1537-1539)Gaa>Taa	p.E513*	PLA2G4C_ENST00000599111.1_Nonsense_Mutation_p.E523*|PLA2G4C_ENST00000413144.2_Nonsense_Mutation_p.E513*|PLA2G4C_ENST00000599921.1_Nonsense_Mutation_p.E513*|PLA2G4C_ENST00000596510.1_5'UTR	NM_001159323.1	NP_001152795.1	Q9UP65	PA24C_HUMAN	phospholipase A2, group IVC (cytosolic, calcium-independent)	513	PLA2c.				arachidonic acid metabolic process|glycerophospholipid catabolic process|inflammatory response|intracellular signal transduction|parturition	cytosol|membrane	calcium-independent phospholipase A2 activity|phospholipid binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(12)|lung(13)|ovary(2)|prostate(1)|skin(3)	38		all_cancers(25;2.84e-05)|all_lung(116;4.62e-05)|Lung NSC(112;7.61e-05)|all_epithelial(76;0.000192)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;8.09e-05)|all cancers(93;0.000517)|Epithelial(262;0.0135)|GBM - Glioblastoma multiforme(486;0.0717)		TTCTTGTTTTCCCTGACATTC	0.478													6	68					0.248553	0.249876	1	1	0	A	48556297	C	A	48556297	4	1	81	1	0	0	0	0	0	1	0	0	12051	864	30	5	100	5	PLA2G4C	19	48556297	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	12392	48556297	10572686	13776	17392											
PLA2G4C	8605	broad.mit.edu	37	19	48565309	48565309	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:48565309C>T	ENST00000354276.3	-	14	1530	c.1203G>A	c.(1201-1203)acG>acA	p.T401T	PLA2G4C_ENST00000599111.1_Silent_p.T411T|CTD-2265M8.2_ENST00000596552.1_RNA|CTD-2265M8.2_ENST00000601950.1_RNA|PLA2G4C_ENST00000413144.2_Silent_p.T401T|PLA2G4C_ENST00000599921.1_Silent_p.T401T|CTD-2265M8.2_ENST00000601548.1_RNA|PLA2G4C_ENST00000596510.1_5'UTR	NM_001159323.1	NP_001152795.1	Q9UP65	PA24C_HUMAN	phospholipase A2, group IVC (cytosolic, calcium-independent)	401	PLA2c.				arachidonic acid metabolic process|glycerophospholipid catabolic process|inflammatory response|intracellular signal transduction|parturition	cytosol|membrane	calcium-independent phospholipase A2 activity|phospholipid binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(12)|lung(13)|ovary(2)|prostate(1)|skin(3)	38		all_cancers(25;2.84e-05)|all_lung(116;4.62e-05)|Lung NSC(112;7.61e-05)|all_epithelial(76;0.000192)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;8.09e-05)|all cancers(93;0.000517)|Epithelial(262;0.0135)|GBM - Glioblastoma multiforme(486;0.0717)		GAACCTCCCGCGTCGGGGGCA	0.607													11	77					0	0	1	0	0	T	48565309	C	T	48565309	2	4	81	1	0	0	0	0	0	0	0	1	12051	755	27	1		1	PLA2G4C	19	48565309	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	9012	48565309	10563674	13777	17393											
PLA2G4C	8605	broad.mit.edu	37	19	48608606	48608606	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:48608606C>A	ENST00000354276.3	-	3	431	c.104G>T	c.(103-105)aGg>aTg	p.R35M	PLA2G4C_ENST00000599111.1_Missense_Mutation_p.R45M|PLA2G4C_ENST00000413144.2_Missense_Mutation_p.R35M|PLA2G4C_ENST00000599921.1_Missense_Mutation_p.R35M	NM_001159323.1	NP_001152795.1	Q9UP65	PA24C_HUMAN	phospholipase A2, group IVC (cytosolic, calcium-independent)	35	PLA2c.				arachidonic acid metabolic process|glycerophospholipid catabolic process|inflammatory response|intracellular signal transduction|parturition	cytosol|membrane	calcium-independent phospholipase A2 activity|phospholipid binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(12)|lung(13)|ovary(2)|prostate(1)|skin(3)	38		all_cancers(25;2.84e-05)|all_lung(116;4.62e-05)|Lung NSC(112;7.61e-05)|all_epithelial(76;0.000192)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;8.09e-05)|all cancers(93;0.000517)|Epithelial(262;0.0135)|GBM - Glioblastoma multiforme(486;0.0717)		AGCCTCAATCCTTAGCTTCTT	0.557													41	79					4.16155e-14	5.27212e-14	1	1	0	A	48608606	C	A	48608606	3	1	81	1	0	0	0	0	1	0	0	0	12051	681	24	4	1585	4	PLA2G4C	19	48608606	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	43297	48608606	10520377	13778	17394											
LIG1	3978	broad.mit.edu	37	19	48665519	48665519	+	Splice_Site	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:48665519T>G	ENST00000263274.7	-	3	526	c.107A>C	c.(106-108)aAg>aCg	p.K36T	LIG1_ENST00000536218.1_Splice_Site_p.K36T|LIG1_ENST00000427526.2_Intron|LIG1_ENST00000599165.1_5'UTR	NM_000234.1	NP_000225.1	P18858	DNLI1_HUMAN	ligase I, DNA, ATP-dependent	36					anatomical structure morphogenesis|base-excision repair|cell division|DNA ligation involved in DNA repair|DNA strand elongation involved in DNA replication|double-strand break repair via homologous recombination|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding			breast(1)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(22)|prostate(2)|skin(1)	44		all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329)	Bleomycin(DB00290)	TGTGACATACTTTGGAGGGGG	0.478								Nucleotide excision repair (NER)					80	128					0	0	1	0	0	G	48665519	T	G	48665519	5	3	81	1	0	0	0	0	0	0	1	0	8821	1623	56	5	2756	5	LIG1	19	48665519	Splice_Site	SNP	T	TCGA-DU-6392-01A-11D-1705-08	56913	48665519	10463464	13779	17395											
TMEM143	55260	broad.mit.edu	37	19	48848500	48848500	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:48848500G>A	ENST00000293261.3	-	4	797	c.481C>T	c.(481-483)Ctg>Ttg	p.L161L	TMEM143_ENST00000541566.1_Silent_p.L51L|TMEM143_ENST00000435956.3_Silent_p.L126L|TMEM143_ENST00000377431.2_Intron|TMEM143_ENST00000436660.2_Intron	NM_018273.2	NP_060743.2	Q96AN5	TM143_HUMAN	transmembrane protein 143	161						integral to membrane|mitochondrion				endometrium(2)|kidney(1)|large_intestine(2)|lung(9)	14		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000149)|all cancers(93;0.000198)|Epithelial(262;0.0151)|GBM - Glioblastoma multiforme(486;0.0157)		GCCTGGGCCAGCAGGGGCTCC	0.632													46	65					0	0	1	0	0	A	48848500	G	A	48848500	2	1	81	1	0	0	0	0	0	0	0	1	16117	962	34	2		2	TMEM143	19	48848500	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	182981	48848500	10280483	13780	17396											
GRIN2D	2906	broad.mit.edu	37	19	48918275	48918275	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:48918275G>A	ENST00000263269.3	+	6	1655	c.1567G>A	c.(1567-1569)Ggc>Agc	p.G523S		NM_000836.2	NP_000827.2	O15399	NMDE4_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2D	523						cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|protein binding			autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1)	37		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Orphenadrine(DB01173)	CGTCTGGAACGGCATGATCGG	0.637													18	28					0	0	1	0	0	A	48918275	G	A	48918275	3	1	81	1	0	0	0	0	1	0	0	0	6823	1116	39	1	1585	1	GRIN2D	19	48918275	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	69775	48918275	10210708	13781	17397											
GRIN2D	2906	broad.mit.edu	37	19	48945130	48945130	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:48945130C>T	ENST00000263269.3	+	11	2445	c.2357C>T	c.(2356-2358)aCg>aTg	p.T786M		NM_000836.2	NP_000827.2	O15399	NMDE4_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2D	786						cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|protein binding			autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1)	37		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Orphenadrine(DB01173)	GTCTTCGCCACGACAGGCTAT	0.632													6	20					0	0	1	0	0	T	48945130	C	T	48945130	3	4	81	1	0	0	0	0	1	0	0	0	6823	536	19	1	2395	1	GRIN2D	19	48945130	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	26855	48945130	10183853	13782	17398											
GRWD1	83743	broad.mit.edu	37	19	48955977	48955977	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:48955977G>A	ENST00000253237.5	+	7	1269	c.1036G>A	c.(1036-1038)Gtg>Atg	p.V346M		NM_031485.3	NP_113673.3	Q9BQ67	GRWD1_HUMAN	glutamate-rich WD repeat containing 1	346						nucleolus				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|stomach(1)	19		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000206)|all cancers(93;0.000207)|Epithelial(262;0.0125)|GBM - Glioblastoma multiforme(486;0.0222)		TGGTTCCCCAGTGGCCACCTT	0.647													22	48					0	0	1	0	0	A	48955977	G	A	48955977	3	1	81	1	0	0	0	0	1	0	0	0	6852	1029	36	2	1062	2	GRWD1	19	48955977	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	10847	48955977	10173006	13783	17399											
GRWD1	83743	broad.mit.edu	37	19	48956129	48956129	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:48956129C>T	ENST00000253237.5	+	7	1421	c.1188C>T	c.(1186-1188)gcC>gcT	p.A396A		NM_031485.3	NP_113673.3	Q9BQ67	GRWD1_HUMAN	glutamate-rich WD repeat containing 1	396						nucleolus				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|stomach(1)	19		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000206)|all cancers(93;0.000207)|Epithelial(262;0.0125)|GBM - Glioblastoma multiforme(486;0.0222)		ACGTGGAGGCCGACCCCGGAC	0.701													9	23					0	0	1	0	0	T	48956129	C	T	48956129	2	4	81	1	0	0	0	0	0	0	0	1	6852	639	23	1		1	GRWD1	19	48956129	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	152	48956129	10172854	13784	17400											
KCNJ14	3770	broad.mit.edu	37	19	48967961	48967961	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:48967961G>A	ENST00000391884.1	+	2	1714	c.1238G>A	c.(1237-1239)gGg>gAg	p.G413E	KCNJ14_ENST00000342291.2_Missense_Mutation_p.G413E			Q9UNX9	IRK14_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 14	413						voltage-gated potassium channel complex	inward rectifier potassium channel activity			cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|skin(2)|urinary_tract(1)	10		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000109)|all cancers(93;0.000129)|Epithelial(262;0.0081)|GBM - Glioblastoma multiforme(486;0.0222)		GAAGGGAATGGGGTGGAAACA	0.552													27	43					0	0	1	0	0	A	48967961	G	A	48967961	3	1	81	1	0	0	0	0	1	0	0	0	8092	1232	43	2	1244	2	KCNJ14	19	48967961	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	11832	48967961	10161022	13785	17401											
CYTH2	9266	broad.mit.edu	37	19	48981590	48981590	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:48981590A>G	ENST00000427476.1	+	10	1247	c.947A>G	c.(946-948)gAc>gGc	p.D316G	CYTH2_ENST00000452733.2_Missense_Mutation_p.D315G	NM_004228.6|NM_017457.5	NP_004219.3|NP_059431.1	Q99418	CYH2_HUMAN	cytohesin 2	316	PH.				actin cytoskeleton organization|endocytosis|regulation of ARF protein signal transduction|regulation of cell adhesion	cytoplasm|membrane fraction|plasma membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						GAGGTGGACGACCCCCGGAAA	0.607													23	42					0	0	1	0	0	G	48981590	A	G	48981590	3	3	81	1	0	0	0	0	1	0	0	0	4227	275	10	3	985	3	CYTH2	19	48981590	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	13629	48981590	10147393	13786	17402											
FAM83E	54854	broad.mit.edu	37	19	49104456	49104456	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:49104456G>A	ENST00000263266.3	-	5	1536	c.1347C>T	c.(1345-1347)ttC>ttT	p.F449F		NM_017708.3	NP_060178.2	Q2M2I3	FA83E_HUMAN	family with sequence similarity 83, member E	449										NS(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(2)	10		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)		CATCCCCACCGAACCGCCTTC	0.706													7	10					0	0	1	0	0	A	49104456	G	A	49104456	2	1	81	1	0	0	0	0	0	0	0	1	5669	1049	37	1		1	FAM83E	19	49104456	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	122866	49104456	10024527	13787	17403											
CA11	770	broad.mit.edu	37	19	49142710	49142710	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:49142710G>A	ENST00000084798.4	-	7	1326	c.647C>T	c.(646-648)gCc>gTc	p.A216V	SEC1P_ENST00000430145.2_RNA	NM_001217.3	NP_001208.2	O75493	CAH11_HUMAN	carbonic anhydrase XI	216						extracellular region				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)	14		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000103)|all cancers(93;0.000119)|GBM - Glioblastoma multiforme(486;0.00634)|Epithelial(262;0.016)		AAGAAAGTAGGCATCATCTGC	0.572													13	35					0	0	1	0	0	A	49142710	G	A	49142710	3	1	81	1	0	0	0	0	1	0	0	0	2530	1203	42	2	351	2	CA11	19	49142710	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	38254	49142710	9986273	13788	17404											
FUT2	2524	broad.mit.edu	37	19	49206262	49206262	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:49206262C>A	ENST00000425340.2	+	2	166	c.49C>A	c.(49-51)Ctc>Atc	p.L17I	FUT2_ENST00000391876.4_Missense_Mutation_p.L17I	NM_000511.5|NM_001097638.2	NP_000502.4|NP_001091107.1	Q10981	FUT2_HUMAN	fucosyltransferase 2 (secretor status included)	17					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	galactoside 2-alpha-L-fucosyltransferase activity			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(2)	7		all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.00011)|all cancers(93;0.000238)|GBM - Glioblastoma multiforme(486;0.0164)|Epithelial(262;0.017)		CCACTTCATCCTCTTTGTCTT	0.542													12	175					0.000151284	0.000165917	1	1	0	A	49206262	C	A	49206262	3	1	81	1	0	0	0	0	1	0	0	0	6139	681	24	4	51	4	FUT2	19	49206262	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	63552	49206262	9922721	13789	17405											
FUT2	2524	broad.mit.edu	37	19	49206500	49206500	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:49206500C>T	ENST00000425340.2	+	2	404	c.287C>T	c.(286-288)cCg>cTg	p.P96L	FUT2_ENST00000391876.4_Missense_Mutation_p.P96L	NM_000511.5|NM_001097638.2	NP_000502.4|NP_001091107.1	Q10981	FUT2_HUMAN	fucosyltransferase 2 (secretor status included)	96					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	galactoside 2-alpha-L-fucosyltransferase activity			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(2)	7		all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.00011)|all cancers(93;0.000238)|GBM - Glioblastoma multiforme(486;0.0164)|Epithelial(262;0.017)		GCCTTCATCCCGGCCCAGATG	0.642													12	15					0	0	1	0	0	T	49206500	C	T	49206500	3	4	81	1	0	0	0	0	1	0	0	0	6139	652	23	1	289	1	FUT2	19	49206500	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	238	49206500	9922483	13790	17406											
IZUMO1	284359	broad.mit.edu	37	19	49249026	49249026	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:49249026G>T	ENST00000332955.2	-	2	638	c.91C>A	c.(91-93)Ctg>Atg	p.L31M		NM_182575.2	NP_872381.2	Q8IYV9	IZUM1_HUMAN	izumo sperm-egg fusion 1	31					fusion of sperm to egg plasma membrane	integral to membrane				endometrium(4)|kidney(3)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	17		all_lung(116;0.000156)|Lung NSC(112;0.000251)|all_epithelial(76;0.000761)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000348)|Epithelial(262;0.019)|GBM - Glioblastoma multiforme(486;0.022)		TTTAGCGCCAGCACGACAGAC	0.572													7	75					8.12818e-05	8.94031e-05	1	1	0	T	49249026	G	T	49249026	3	4	81	1	0	0	0	0	1	0	0	0	7977	962	34	4	997	4	IZUMO1	19	49249026	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	42526	49249026	9879957	13791	17407											
FUT1	2523	broad.mit.edu	37	19	49254308	49254308	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:49254308G>T	ENST00000310160.3	-	4	1205	c.231C>A	c.(229-231)ctC>ctA	p.L77L		NM_000148.3	NP_000139.1	P19526	FUT1_HUMAN	fucosyltransferase 1 (galactoside 2-alpha-L-fucosyltransferase, H blood group)	77					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to plasma membrane|membrane fraction	galactoside 2-alpha-L-fucosyltransferase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(3)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	17		all_lung(116;1.7e-06)|all_epithelial(76;3.52e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000135)|all cancers(93;0.000354)|Epithelial(262;0.0191)|GBM - Glioblastoma multiforme(486;0.0222)		AGGTGCCGGAGAGGGAAGCAG	0.662													8	31					3.09899e-07	3.60815e-07	1	1	0	T	49254308	G	T	49254308	2	4	81	1	0	0	0	0	0	0	0	1	6136	929	33	4		4	FUT1	19	49254308	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	5282	49254308	9874675	13792	17408											
PPP1R15A	23645	broad.mit.edu	37	19	49376947	49376947	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:49376947G>T	ENST00000200453.5	+	2	726	c.457G>T	c.(457-459)Ggt>Tgt	p.G153C		NM_014330.3	NP_055145.3	O75807	PR15A_HUMAN	protein phosphatase 1, regulatory subunit 15A	153	Required for localization in the endoplasmic reticulum.				apoptosis|cell cycle arrest|regulation of translation|response to DNA damage stimulus	endoplasmic reticulum	protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(8)|skin(2)|urinary_tract(1)	23		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000244)|all cancers(93;0.000694)|GBM - Glioblastoma multiforme(486;0.0222)|Epithelial(262;0.033)		GACACTGCAAGGTTCTGATAA	0.547													26	47					1.1804e-14	1.50034e-14	1	1	0	T	49376947	G	T	49376947	3	4	81	1	0	0	0	0	1	0	0	0	12412	1000	35	4	459	4	PPP1R15A	19	49376947	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	122639	49376947	9752036	13793	17409											
TULP2	7288	broad.mit.edu	37	19	49385367	49385367	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:49385367C>T	ENST00000221399.3	-	12	1513	c.1369G>A	c.(1369-1371)Ggt>Agt	p.G457S		NM_003323.2	NP_003314.2	O00295	TULP2_HUMAN	tubby like protein 2	457					visual perception	cytoplasm|extracellular region				NS(1)|breast(2)|central_nervous_system(2)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	22		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000259)|all cancers(93;0.000435)|Epithelial(262;0.0221)|GBM - Glioblastoma multiforme(486;0.0234)		GTGTAGACACCGTTCTCCTTG	0.512													35	49					0	0	1	0	0	T	49385367	C	T	49385367	3	4	81	1	0	0	0	0	1	0	0	0	16836	652	23	1	201	1	TULP2	19	49385367	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	8420	49385367	9743616	13794	17410											
NUCB1	4924	broad.mit.edu	37	19	49422336	49422336	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:49422336T>C	ENST00000405315.4	+	9	1200	c.866T>C	c.(865-867)aTg>aCg	p.M289T	NUCB1_ENST00000407032.1_Missense_Mutation_p.M289T|NUCB1_ENST00000263273.5_Missense_Mutation_p.M289T|NUCB1_ENST00000485798.1_Intron	NM_006184.5	NP_006175.2	Q02818	NUCB1_HUMAN	nucleobindin 1	289	Binds to GNAI2 and GNAI3 (By similarity).					ER-Golgi intermediate compartment|extracellular space|Golgi apparatus|membrane|microtubule cytoskeleton	calcium ion binding|DNA binding			cervix(1)|endometrium(4)|large_intestine(4)|lung(8)	17		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000171)|all cancers(93;0.000333)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0244)		ATGCGGGAGATGGAGGAGGAG	0.617													4	29					0	0	1	0	0	C	49422336	T	C	49422336	3	2	81	1	0	0	0	0	1	0	0	0	10766	1464	51	3	896	3	NUCB1	19	49422336	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	36969	49422336	9706647	13795	17411											
NUCB1	4924	broad.mit.edu	37	19	49422352	49422352	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:49422352G>A	ENST00000405315.4	+	9	1216	c.882G>A	c.(880-882)ctG>ctA	p.L294L	NUCB1_ENST00000407032.1_Silent_p.L294L|NUCB1_ENST00000263273.5_Silent_p.L294L|NUCB1_ENST00000485798.1_Intron	NM_006184.5	NP_006175.2	Q02818	NUCB1_HUMAN	nucleobindin 1	294	Binds to GNAI2 and GNAI3 (By similarity).|EF-hand 2.					ER-Golgi intermediate compartment|extracellular space|Golgi apparatus|membrane|microtubule cytoskeleton	calcium ion binding|DNA binding			cervix(1)|endometrium(4)|large_intestine(4)|lung(8)	17		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000171)|all cancers(93;0.000333)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0244)		AGGAGCGACTGCGCATGCGGG	0.607													8	23					0	0	1	0	0	A	49422352	G	A	49422352	2	1	81	1	0	0	0	0	0	0	0	1	10766	1306	46	2		2	NUCB1	19	49422352	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	16	49422352	9706631	13796	17412											
FTL	2512	broad.mit.edu	37	19	49469891	49469891	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:49469891A>G	ENST00000331825.6	+	4	634	c.427A>G	c.(427-429)Aag>Gag	p.K143E		NM_000146.3	NP_000137.2	P02792	FRIL_HUMAN	ferritin, light polypeptide	143	Ferritin-like diiron.				cell death|cellular iron ion homeostasis|cellular membrane organization|iron ion transport|post-Golgi vesicle-mediated transport	cytosol|intracellular ferritin complex	ferric iron binding|identical protein binding|oxidoreductase activity			cervix(1)|kidney(3)|lung(5)	9		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000152)|all cancers(93;0.000435)|GBM - Glioblastoma multiforme(486;0.0171)|Epithelial(262;0.0267)	Iron Dextran(DB00893)	GAAGCTTATCAAGAAGATGGG	0.532													10	190					0	0	1	0	0	G	49469891	A	G	49469891	3	3	81	1	0	0	0	0	1	0	0	0	6119	131	5	3	441	3	FTL	19	49469891	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	47539	49469891	9659092	13797	17413											
GYS1	2997	broad.mit.edu	37	19	49496323	49496323	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:49496323T>C	ENST00000323798.3	-	1	243	c.47A>G	c.(46-48)gAg>gGg	p.E16G	GYS1_ENST00000540532.1_5'UTR|GYS1_ENST00000541188.1_5'UTR|GYS1_ENST00000457974.1_5'UTR|GYS1_ENST00000263276.6_Missense_Mutation_p.E16G|GYS1_ENST00000544287.1_Intron	NM_002103.4	NP_002094.2	P13807	GYS1_HUMAN	glycogen synthase 1 (muscle)	16					glucose metabolic process|glycogen biosynthetic process	cytosol	glycogen (starch) synthase activity|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000164)|all cancers(93;0.000226)|GBM - Glioblastoma multiforme(486;0.00561)|Epithelial(262;0.0286)		CTCCCAGTCCTCCAGTCCTGG	0.627											OREG0025612	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	96					0	0	1	0	0	C	49496323	T	C	49496323	3	2	81	1	0	0	0	0	1	0	0	0	6953	1551	54	3	2230	3	GYS1	19	49496323	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	26432	49496323	9632660	13798	17414											
SNRNP70	6625	broad.mit.edu	37	19	49593547	49593547	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:49593547G>T	ENST00000221448.5	+	3	343		c.e3-1		SNRNP70_ENST00000598441.1_Splice_Site	NM_003089.4	NP_003080.2	P08621	RU17_HUMAN	small nuclear ribonucleoprotein 70kDa (U1)						nuclear mRNA splicing, via spliceosome|regulation of RNA splicing	nucleoplasm|spliceosomal complex	nucleotide binding|protein binding|RNA binding			cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|skin(2)	12						CTTGTTCCCAGGACCCTCGAG	0.552													17	22					2.4624e-09	2.97042e-09	1	1	0	T	49593547	G	T	49593547	5	4	81	1	0	0	0	0	0	0	1	0	14912	1014	35	4	153	4	SNRNP70	19	49593547	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	97224	49593547	9535436	13799	17415											
SNRNP70	6625	broad.mit.edu	37	19	49593597	49593597	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:49593597G>A	ENST00000221448.5	+	3	393	c.197G>A	c.(196-198)cGc>cAc	p.R66H	SNRNP70_ENST00000598441.1_Missense_Mutation_p.R66H	NM_003089.4	NP_003080.2	P08621	RU17_HUMAN	small nuclear ribonucleoprotein 70kDa (U1)	66					nuclear mRNA splicing, via spliceosome|regulation of RNA splicing	nucleoplasm|spliceosomal complex	nucleotide binding|protein binding|RNA binding			cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|skin(2)	12						CGAGAGGAGCGCATGGAGAGG	0.527													10	35					0	0	1	0	0	A	49593597	G	A	49593597	3	1	81	1	0	0	0	0	1	0	0	0	14912	1087	38	1	203	1	SNRNP70	19	49593597	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	50	49593597	9535386	13800	17416											
SNRNP70	6625	broad.mit.edu	37	19	49610962	49610962	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:49610962G>A	ENST00000221448.5	+	9	854	c.658G>A	c.(658-660)Gat>Aat	p.D220N	SNRNP70_ENST00000598441.1_Missense_Mutation_p.D220N	NM_003089.4	NP_003080.2	P08621	RU17_HUMAN	small nuclear ribonucleoprotein 70kDa (U1)	220					nuclear mRNA splicing, via spliceosome|regulation of RNA splicing	nucleoplasm|spliceosomal complex	nucleotide binding|protein binding|RNA binding			cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|skin(2)	12						CTCCCGCTACGATGAGAGGTA	0.677													21	16					0	0	1	0	0	A	49610962	G	A	49610962	3	1	81	1	0	0	0	0	1	0	0	0	14912	1058	37	1	688	1	SNRNP70	19	49610962	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	17365	49610962	9518021	13801	17417											
HRC	3270	broad.mit.edu	37	19	49657374	49657374	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:49657374A>G	ENST00000252825.4	-	1	1307	c.1121T>C	c.(1120-1122)gTa>gCa	p.V374A	HRC_ENST00000595625.1_Missense_Mutation_p.V374A	NM_002152.2	NP_002143.1	P23327	SRCH_HUMAN	histidine rich calcium binding protein	374					muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2)	34		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)		TTCCTCATCTACAAGGCCATG	0.542													25	57					0	0	1	0	0	G	49657374	A	G	49657374	3	3	81	1	0	0	0	0	1	0	0	0	7393	391	14	3	1002	3	HRC	19	49657374	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	46412	49657374	9471609	13802	17418											
HRC	3270	broad.mit.edu	37	19	49658016	49658016	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:49658016T>C	ENST00000252825.4	-	1	665	c.479A>G	c.(478-480)cAt>cGt	p.H160R	HRC_ENST00000595625.1_Missense_Mutation_p.H160R	NM_002152.2	NP_002143.1	P23327	SRCH_HUMAN	histidine rich calcium binding protein	160	4 X tandem repeats, acidic.|6 X approximate tandem repeats.				muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2)	34		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)		CTCGTCTTGATGGCTGTGGCT	0.582													13	41					0	0	1	0	0	C	49658016	T	C	49658016	3	2	81	1	0	0	0	0	1	0	0	0	7393	1464	51	3	1644	3	HRC	19	49658016	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	642	49658016	9470967	13803	17419	87	2									
HRC	3270	broad.mit.edu	37	19	49658019	49658019	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:49658019C>A	ENST00000252825.4	-	1	662	c.476G>T	c.(475-477)aGc>aTc	p.S159I	HRC_ENST00000595625.1_Missense_Mutation_p.S159I	NM_002152.2	NP_002143.1	P23327	SRCH_HUMAN	histidine rich calcium binding protein	159	4 X tandem repeats, acidic.|6 X approximate tandem repeats.				muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2)	34		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)		GTCTTGATGGCTGTGGCTCCT	0.587													9	44					1.08611e-07	1.27405e-07	1	1	0	A	49658019	C	A	49658019	3	1	81	1	0	0	0	0	1	0	0	0	7393	797	28	4	1647	4	HRC	19	49658019	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3	49658019	9470964	13804	17420	87	2									
HRC	3270	broad.mit.edu	37	19	49658411	49658411	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:49658411C>A	ENST00000252825.4	-	1	270	c.84G>T	c.(82-84)caG>caT	p.Q28H	HRC_ENST00000595625.1_Missense_Mutation_p.Q28H	NM_002152.2	NP_002143.1	P23327	SRCH_HUMAN	histidine rich calcium binding protein	28					muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2)	34		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)		CTCTGAGCTGCTGGGTCATGG	0.667													6	59					0.0215528	0.0221217	1	1	0	A	49658411	C	A	49658411	3	1	81	1	0	0	0	0	1	0	0	0	7393	796	28	4	2039	4	HRC	19	49658411	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	392	49658411	9470572	13805	17421											
TRPM4	54795	broad.mit.edu	37	19	49671579	49671579	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:49671579C>T	ENST00000252826.5	+	5	637	c.511C>T	c.(511-513)Cgg>Tgg	p.R171W	TRPM4_ENST00000427978.2_Missense_Mutation_p.R171W|TRPM4_ENST00000355712.5_Intron	NM_017636.3	NP_060106.2	Q8TD43	TRPM4_HUMAN	transient receptor potential cation channel, subfamily M, member 4	171					dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production	endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	ATP binding|calcium activated cation channel activity|calmodulin binding			breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)		TGTGGCTGTACGGGACCATCA	0.637													45	60					0	0	1	0	0	T	49671579	C	T	49671579	3	4	81	1	0	0	0	0	1	0	0	0	16649	527	19	1	529	1	TRPM4	19	49671579	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	13168	49671579	9457404	13806	17422											
TRPM4	54795	broad.mit.edu	37	19	49685991	49685991	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:49685991C>T	ENST00000252826.5	+	11	1546	c.1420C>T	c.(1420-1422)Cgc>Tgc	p.R474C	TRPM4_ENST00000427978.2_Missense_Mutation_p.R474C|TRPM4_ENST00000355712.5_Missense_Mutation_p.R120C|TRPM4_ENST00000601347.1_3'UTR	NM_017636.3	NP_060106.2	Q8TD43	TRPM4_HUMAN	transient receptor potential cation channel, subfamily M, member 4	474					dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production	endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	ATP binding|calcium activated cation channel activity|calmodulin binding			breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)		CTCGCTCATCCGCAACCTTTT	0.672													19	27					0	0	1	0	0	T	49685991	C	T	49685991	3	4	81	1	0	0	0	0	1	0	0	0	16649	652	23	1	1462	1	TRPM4	19	49685991	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	14412	49685991	9442992	13807	17423											
SLC6A16	28968	broad.mit.edu	37	19	49793840	49793840	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:49793840C>A	ENST00000454748.3	-	11	2164	c.1963G>T	c.(1963-1965)Gaa>Taa	p.E655*	SLC6A16_ENST00000335875.4_Intron			Q9GZN6	S6A16_HUMAN	solute carrier family 6, member 16	655						integral to membrane|intracellular	neurotransmitter:sodium symporter activity			NS(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00099)|GBM - Glioblastoma multiforme(486;0.0336)		CAAAGGGGTTCTGGGTCCTGG	0.512													5	29					0.014758	0.0152304	1	1	0	A	49793840	C	A	49793840	4	1	81	1	0	0	0	0	0	1	0	0	14734	928	32	4		4	SLC6A16	19	49793840	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	107849	49793840	9335143	13808	17424											
CD37	951	broad.mit.edu	37	19	49840409	49840409	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:49840409T>C	ENST00000535669.2	+	4	387	c.273T>C	c.(271-273)ttT>ttC	p.F91F	CD37_ENST00000323906.4_Silent_p.F91F|CD37_ENST00000598095.1_Silent_p.F23F|CD37_ENST00000596426.1_3'UTR|CD37_ENST00000426897.2_Silent_p.F23F|CTC-301O7.4_ENST00000358234.4_lincRNA			P11049	CD37_HUMAN	CD37 molecule	91						integral to membrane				breast(1)|endometrium(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)	11		all_lung(116;2.81e-06)|Lung NSC(112;5.89e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00088)|GBM - Glioblastoma multiforme(486;0.0443)		CCCAGTATTTTGGGATGCTGC	0.607													5	53					0	0	1	0	0	C	49840409	T	C	49840409	2	2	81	1	0	0	0	0	0	0	0	1	3030	1809	63	3		3	CD37	19	49840409	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	46569	49840409	9288574	13809	17425											
PIH1D1	55011	broad.mit.edu	37	19	49951093	49951093	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:49951093G>A	ENST00000262265.5	-	5	707	c.472C>T	c.(472-474)Ctg>Ttg	p.L158L	PIH1D1_ENST00000596049.1_Silent_p.L158L	NM_017916.2	NP_060386.1	Q9NWS0	PIHD1_HUMAN	PIH1 domain containing 1	158					box C/D snoRNP assembly	pre-snoRNP complex				NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(5)|urinary_tract(1)	11		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00152)|GBM - Glioblastoma multiforme(486;0.0244)		CCCGGATTCAGCTGCAAGTTG	0.612													38	78					0	0	1	0	0	A	49951093	G	A	49951093	2	1	81	1	0	0	0	0	0	0	0	1	11954	962	34	2		2	PIH1D1	19	49951093	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	110684	49951093	9177890	13810	17426											
RPL13A	23521	broad.mit.edu	37	19	49993743	49993743	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:49993743G>A	ENST00000391857.4	+	4	242	c.166G>A	c.(166-168)Gct>Act	p.A56T	RPL13A_ENST00000477613.2_3'UTR	NM_001270491.1|NM_012423.3	NP_001257420.1|NP_036555.1	P40429	RL13A_HUMAN	ribosomal protein L13a	56					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|large ribosomal subunit	structural constituent of ribosome			cervix(1)|endometrium(1)	2		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00154)|GBM - Glioblastoma multiforme(486;0.0246)		GAAGTACCTGGCTTTCCTCCG	0.622													20	21					0	0	1	0	0	A	49993743	G	A	49993743	3	1	81	1	0	0	0	0	1	0	0	0	13612	1203	42	2	180	2	RPL13A	19	49993743	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	42650	49993743	9135240	13811	17427											
RPS11	6205	broad.mit.edu	37	19	50001210	50001210	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:50001210T>C	ENST00000270625.2	+	4	343	c.260T>C	c.(259-261)gTc>gCc	p.V87A	RPS11_ENST00000594493.1_Missense_Mutation_p.V8A|RPS11_ENST00000599561.1_Silent_p.C52C|RPS11_ENST00000596873.1_Missense_Mutation_p.V87A	NM_001015.4	NP_001006.1	P62280	RS11_HUMAN	ribosomal protein S11	87					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit	protein binding|rRNA binding|structural constituent of ribosome			kidney(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	7		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00206)|GBM - Glioblastoma multiforme(486;0.0245)		AGGACCATTGTCATCCGCCGA	0.572													9	34					0	0	1	0	0	C	50001210	T	C	50001210	3	2	81	1	0	0	0	0	1	0	0	0	13673	1667	58	3	274	3	RPS11	19	50001210	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	7467	50001210	9127773	13812	17428											
NOSIP	51070	broad.mit.edu	37	19	50062189	50062189	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:50062189G>A	ENST00000391853.3	-	5	374	c.223C>T	c.(223-225)Ctg>Ttg	p.L75L	NOSIP_ENST00000596358.1_Silent_p.L75L|NOSIP_ENST00000339093.3_Silent_p.L75L	NM_015953.4	NP_057037.1	Q9Y314	NOSIP_HUMAN	nitric oxide synthase interacting protein	75	U-box-like.				negative regulation of nitric-oxide synthase activity|nitric oxide metabolic process	cytosol|nucleus	protein binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)|skin(2)|urinary_tract(1)	11		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00321)|GBM - Glioblastoma multiforme(134;0.0133)		TTCTGGTGCAGAATGTACTCC	0.572													31	366					0	0	1	0	0	A	50062189	G	A	50062189	2	1	81	1	0	0	0	0	0	0	0	1	10592	933	33	2		2	NOSIP	19	50062189	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	60979	50062189	9066794	13813	17429											
PRRG2	5639	broad.mit.edu	37	19	50086827	50086827	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:50086827G>T	ENST00000246794.5	+	3	283	c.114G>T	c.(112-114)caG>caT	p.Q38H	PRRG2_ENST00000596700.1_Intron	NM_000951.2	NP_000942.1	O14669	TMG2_HUMAN	proline rich Gla (G-carboxyglutamic acid) 2	38						extracellular region|integral to plasma membrane	calcium ion binding			lung(1)|skin(1)|soft_tissue(1)	3		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.196)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00295)|GBM - Glioblastoma multiforme(134;0.0121)		CAGAGGCCCAGAGCTTCCTGA	0.577													38	118					8.69298e-16	1.11162e-15	1	1	0	T	50086827	G	T	50086827	3	4	81	1	0	0	0	0	1	0	0	0	12656	933	33	4	120	4	PRRG2	19	50086827	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	24638	50086827	9042156	13814	17430											
PRR12	57479	broad.mit.edu	37	19	50098071	50098071	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:50098071G>A	ENST00000418929.2	+	4	491	c.479G>A	c.(478-480)cGc>cAc	p.R160H		NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN	proline rich 12	573	Pro-rich.						DNA binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		TTCGGCAGCCGCCCCTTCCCA	0.662													7	8					0	0	1	0	0	A	50098071	G	A	50098071	3	1	81	1	0	0	0	0	1	0	0	0	12636	1087	38	1	493	1	PRR12	19	50098071	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	11244	50098071	9030912	13815	17431											
SCAF1	58506	broad.mit.edu	37	19	50155744	50155744	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:50155744G>A	ENST00000360565.3	+	7	2222	c.2098G>A	c.(2098-2100)Gcc>Acc	p.A700T		NM_021228.2	NP_067051.2	Q9H7N4	SFR19_HUMAN	SR-related CTD-associated factor 1	700	Ser-rich.				mRNA processing|RNA splicing	nucleus	RNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	20		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)		CGACCTCTTCGCCATCAAGCG	0.701													8	11					0	0	1	0	0	A	50155744	G	A	50155744	3	1	81	1	0	0	0	0	1	0	0	0	13921	1087	38	1	2120	1	SCAF1	19	50155744	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	57673	50155744	8973239	13816	17432											
IRF3	3661	broad.mit.edu	37	19	50166499	50166499	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:50166499G>A	ENST00000442265.2	-	2	181	c.182C>T	c.(181-183)cCc>cTc	p.P61L	IRF3_ENST00000309877.7_Silent_p.S118S|IRF3_ENST00000596822.1_5'UTR|IRF3_ENST00000377139.3_Silent_p.S118S|IRF3_ENST00000600022.1_5'UTR|IRF3_ENST00000598808.1_5'UTR|IRF3_ENST00000601291.1_Silent_p.S118S|IRF3_ENST00000599223.1_Silent_p.S118S|IRF3_ENST00000377135.4_Silent_p.S118S|IRF3_ENST00000600911.1_Silent_p.S118S|IRF3_ENST00000596765.1_5'UTR|IRF3_ENST00000593922.1_5'UTR|IRF3_ENST00000599144.1_5'UTR|IRF3_ENST00000597198.1_Silent_p.S118S			Q14653	IRF3_HUMAN	interferon regulatory factor 3	187					interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|response to virus|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytosol|endosome membrane|nucleoplasm|plasma membrane	DNA binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			breast(1)|large_intestine(2)|lung(4)|ovary(2)|stomach(1)	10		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.02)		TGTCTGGCTGGGAAAAGTCCC	0.582													6	99					0	0	1	0	0	A	50166499	G	A	50166499	3	1	81	1	0	0	0	0	1	0	0	0	7875	1219	43	2	949	2	IRF3	19	50166499	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	10755	50166499	8962484	13817	17433											
CPT1C	126129	broad.mit.edu	37	19	50209545	50209545	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:50209545G>A	ENST00000392518.4	+	12	1590	c.1218G>A	c.(1216-1218)gaG>gaA	p.E406E	CPT1C_ENST00000323446.5_Silent_p.E406E|CPT1C_ENST00000354199.5_Silent_p.E406E|CPT1C_ENST00000405931.2_Silent_p.E395E|CPT1C_ENST00000598293.1_Silent_p.E406E	NM_001199752.1	NP_001186681.1	Q8TCG5	CPT1C_HUMAN	carnitine palmitoyltransferase 1C	406					fatty acid metabolic process	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)		AGGCCCTGGAGGCGGTGGAAG	0.697													3	11					0	0	1	0	0	A	50209545	G	A	50209545	2	1	81	1	0	0	0	0	0	0	0	1	3856	991	35	2		2	CPT1C	19	50209545	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	43046	50209545	8919438	13818	17434											
CPT1C	126129	broad.mit.edu	37	19	50209622	50209622	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:50209622C>T	ENST00000392518.4	+	12	1667	c.1295C>T	c.(1294-1296)tCg>tTg	p.S432L	CPT1C_ENST00000323446.5_Missense_Mutation_p.S432L|CPT1C_ENST00000354199.5_Missense_Mutation_p.S432L|CPT1C_ENST00000405931.2_Missense_Mutation_p.S421L|CPT1C_ENST00000598293.1_Missense_Mutation_p.S432L	NM_001199752.1	NP_001186681.1	Q8TCG5	CPT1C_HUMAN	carnitine palmitoyltransferase 1C	432					fatty acid metabolic process	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)		CCGGCAGCGTCGTTGGATGCC	0.672													6	5					0	0	1	0	0	T	50209622	C	T	50209622	3	4	81	1	0	0	0	0	1	0	0	0	3856	893	31	1	1333	1	CPT1C	19	50209622	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	77	50209622	8919361	13819	17435											
AP2A1	160	broad.mit.edu	37	19	50285229	50285229	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:50285229T>C	ENST00000354293.5	+	3	328	c.162T>C	c.(160-162)agT>agC	p.S54S	AP2A1_ENST00000359032.5_Silent_p.S54S|AP2A1_ENST00000600199.1_3'UTR	NM_130787.2	NP_570603.2	O95782	AP2A1_HUMAN	adaptor-related protein complex 2, alpha 1 subunit	54					axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|Golgi to endosome transport|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction	AP-2 adaptor complex|clathrin coat of trans-Golgi network vesicle|cytosol	protein binding|protein transporter activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)	19		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.0023)|GBM - Glioblastoma multiforme(134;0.0157)		ATGGCTACAGTAAGAAAAAAT	0.473													6	5					0	0	1	0	0	C	50285229	T	C	50285229	2	2	81	1	0	0	0	0	0	0	0	1	735	1635	57	3		3	AP2A1	19	50285229	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	75607	50285229	8843754	13820	17436											
AP2A1	160	broad.mit.edu	37	19	50302934	50302934	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:50302934G>A	ENST00000354293.5	+	10	1349	c.1183G>A	c.(1183-1185)Gcc>Acc	p.A395T	AP2A1_ENST00000359032.5_Missense_Mutation_p.A395T	NM_130787.2	NP_570603.2	O95782	AP2A1_HUMAN	adaptor-related protein complex 2, alpha 1 subunit	395					axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|Golgi to endosome transport|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction	AP-2 adaptor complex|clathrin coat of trans-Golgi network vesicle|cytosol	protein binding|protein transporter activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)	19		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.0023)|GBM - Glioblastoma multiforme(134;0.0157)		CCTCCTCTACGCCATGTGTGA	0.632													17	41					0	0	1	0	0	A	50302934	G	A	50302934	3	1	81	1	0	0	0	0	1	0	0	0	735	1087	38	1	1221	1	AP2A1	19	50302934	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	17705	50302934	8826049	13821	17437											
AP2A1	160	broad.mit.edu	37	19	50309177	50309177	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:50309177C>T	ENST00000354293.5	+	21	2800	c.2634C>T	c.(2632-2634)gaC>gaT	p.D878D	AP2A1_ENST00000359032.5_Silent_p.D900D	NM_130787.2	NP_570603.2	O95782	AP2A1_HUMAN	adaptor-related protein complex 2, alpha 1 subunit	900					axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|Golgi to endosome transport|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction	AP-2 adaptor complex|clathrin coat of trans-Golgi network vesicle|cytosol	protein binding|protein transporter activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)	19		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.0023)|GBM - Glioblastoma multiforme(134;0.0157)		ACCCCATGGACGCAGAAGTTA	0.592													4	62					0	0	1	0	0	T	50309177	C	T	50309177	2	4	81	1	0	0	0	0	0	0	0	1	735	535	19	1		1	AP2A1	19	50309177	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	6243	50309177	8819806	13822	17438											
AP2A1	160	broad.mit.edu	37	19	50309432	50309432	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:50309432C>T	ENST00000354293.5	+	22	2878	c.2712C>T	c.(2710-2712)ttC>ttT	p.F904F	AP2A1_ENST00000359032.5_Silent_p.F926F	NM_130787.2	NP_570603.2	O95782	AP2A1_HUMAN	adaptor-related protein complex 2, alpha 1 subunit	926					axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|Golgi to endosome transport|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction	AP-2 adaptor complex|clathrin coat of trans-Golgi network vesicle|cytosol	protein binding|protein transporter activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)	19		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.0023)|GBM - Glioblastoma multiforme(134;0.0157)		CTGAGAACTTCGTGGGGGCGG	0.642													5	6					0	0	1	0	0	T	50309432	C	T	50309432	2	4	81	1	0	0	0	0	0	0	0	1	735	883	31	1		1	AP2A1	19	50309432	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	255	50309432	8819551	13823	17439											
TBC1D17	79735	broad.mit.edu	37	19	50386140	50386140	+	Silent	SNP	C	C	A	rs146598967	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:50386140C>A	ENST00000221543.5	+	8	1217	c.918C>A	c.(916-918)atC>atA	p.I306I	TBC1D17_ENST00000535102.2_Silent_p.I273I	NM_024682.2	NP_078958	Q9HA65	TBC17_HUMAN	TBC1 domain family, member 17	306						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)		AGAACCGGATCTTCTCGGGGG	0.667													10	34					9.70103e-10	1.17698e-09	1	1	0	A	50386140	C	A	50386140	2	1	81	1	0	0	0	0	0	0	0	1	15663	903	32	4		4	TBC1D17	19	50386140	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	76708	50386140	8742843	13824	17440											
TBC1D17	79735	broad.mit.edu	37	19	50387952	50387952	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:50387952C>T	ENST00000221543.5	+	13	1680	c.1381C>T	c.(1381-1383)Cgg>Tgg	p.R461W	TBC1D17_ENST00000535102.2_Missense_Mutation_p.R428W	NM_024682.2	NP_078958	Q9HA65	TBC17_HUMAN	TBC1 domain family, member 17	461	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)		GACCATGAAGCGGCAACTCGG	0.627													17	31					0	0	1	0	0	T	50387952	C	T	50387952	3	4	81	1	0	0	0	0	1	0	0	0	15663	759	27	1	1431	1	TBC1D17	19	50387952	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1812	50387952	8741031	13825	17441											
ATF5	22809	broad.mit.edu	37	19	50436081	50436081	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:50436081C>A	ENST00000423777.2	+	3	958	c.581C>A	c.(580-582)cCt>cAt	p.P194H	ATF5_ENST00000595125.1_Missense_Mutation_p.P194H|CTC-326K19.6_ENST00000451973.1_Intron	NM_001193646.1	NP_001180575.1	Q9Y2D1	ATF5_HUMAN	activating transcription factor 5	194	Interaction with PTP4A1 (By similarity).|Poly-Pro.				regulation of transcription from RNA polymerase II promoter	cytoplasm	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			NS(1)|endometrium(2)|large_intestine(1)|skin(3)	7		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00221)|OV - Ovarian serous cystadenocarcinoma(262;0.017)		CCACCTCAACCTTCTCGCCTG	0.657													4	2					0.000602214	0.000646338	1	1	0	A	50436081	C	A	50436081	3	1	81	1	0	0	0	0	1	0	0	0	1082	681	24	4	587	4	ATF5	19	50436081	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	48129	50436081	8692902	13826	17442											
SIGLEC11	114132	broad.mit.edu	37	19	50461747	50461747	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:50461747C>T	ENST00000447370.2	-	8	1534	c.1444G>A	c.(1444-1446)Gcc>Acc	p.A482T	SIGLEC11_ENST00000426971.2_Intron	NM_052884.2	NP_443116.2	Q96RL6	SIG11_HUMAN	sialic acid binding Ig-like lectin 11	482					cell adhesion	integral to membrane	sugar binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1)	32		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517)		AGAGAGGGGGCCGGGCTGGCC	0.706													7	13					0	0	1	0	0	T	50461747	C	T	50461747	3	4	81	1	0	0	0	0	1	0	0	0	14362	739	26	2	668	2	SIGLEC11	19	50461747	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	25666	50461747	8667236	13827	17443											
SIGLEC11	114132	broad.mit.edu	37	19	50463907	50463907	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:50463907G>A	ENST00000447370.2	-	2	452	c.362C>T	c.(361-363)gCg>gTg	p.A121V	SIGLEC11_ENST00000426971.2_Missense_Mutation_p.A121V	NM_052884.2	NP_443116.2	Q96RL6	SIG11_HUMAN	sialic acid binding Ig-like lectin 11	121	Ig-like V-type.				cell adhesion	integral to membrane	sugar binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1)	32		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517)		CTCCCTCTGCGCGTCTCTGAT	0.537													15	22					0	0	1	0	0	A	50463907	G	A	50463907	3	1	81	1	0	0	0	0	1	0	0	0	14362	1087	38	1	1774	1	SIGLEC11	19	50463907	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2160	50463907	8665076	13828	17444	88	2									
SIGLEC11	114132	broad.mit.edu	37	19	50463908	50463908	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:50463908C>T	ENST00000447370.2	-	2	451	c.361G>A	c.(361-363)Gcg>Acg	p.A121T	SIGLEC11_ENST00000426971.2_Missense_Mutation_p.A121T	NM_052884.2	NP_443116.2	Q96RL6	SIG11_HUMAN	sialic acid binding Ig-like lectin 11	121	Ig-like V-type.				cell adhesion	integral to membrane	sugar binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1)	32		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517)		TCCCTCTGCGCGTCTCTGATC	0.542													13	24					0	0	1	0	0	T	50463908	C	T	50463908	3	4	81	1	0	0	0	0	1	0	0	0	14362	768	27	1	1775	1	SIGLEC11	19	50463908	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1	50463908	8665075	13829	17445	88	2									
VRK3	51231	broad.mit.edu	37	19	50482412	50482412	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:50482412G>A	ENST00000599538.1	-	14	2028	c.1364C>T	c.(1363-1365)gCt>gTt	p.A455V	VRK3_ENST00000594948.1_Missense_Mutation_p.A455V|VRK3_ENST00000601341.1_Missense_Mutation_p.A405V|VRK3_ENST00000377011.2_Missense_Mutation_p.A405V|VRK3_ENST00000443401.2_Missense_Mutation_p.A224V|VRK3_ENST00000316763.3_Missense_Mutation_p.A455V			Q8IV63	VRK3_HUMAN	vaccinia related kinase 3	455	Protein kinase.					nucleus	ATP binding|protein kinase activity			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|skin(2)|stomach(2)|urinary_tract(1)	23		all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00166)|OV - Ovarian serous cystadenocarcinoma(262;0.00652)		CTGCAGCAAAGCTTCTAGGTT	0.562													11	21					0	0	1	0	0	A	50482412	G	A	50482412	3	1	81	1	0	0	0	0	1	0	0	0	17281	971	34	2	64	2	VRK3	19	50482412	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	18504	50482412	8646571	13830	17446											
VRK3	51231	broad.mit.edu	37	19	50500782	50500782	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:50500782G>A	ENST00000599538.1	-	7	1322	c.658C>T	c.(658-660)Cgg>Tgg	p.R220W	VRK3_ENST00000424804.2_Intron|VRK3_ENST00000601912.1_Missense_Mutation_p.R170W|VRK3_ENST00000594948.1_Missense_Mutation_p.R220W|VRK3_ENST00000601341.1_Missense_Mutation_p.R170W|VRK3_ENST00000377011.2_Missense_Mutation_p.R170W|VRK3_ENST00000594092.1_Missense_Mutation_p.R220W|VRK3_ENST00000593919.1_Missense_Mutation_p.R220W|VRK3_ENST00000443401.2_Intron|VRK3_ENST00000316763.3_Missense_Mutation_p.R220W			Q8IV63	VRK3_HUMAN	vaccinia related kinase 3	220	Protein kinase.					nucleus	ATP binding|protein kinase activity			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|skin(2)|stomach(2)|urinary_tract(1)	23		all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00166)|OV - Ovarian serous cystadenocarcinoma(262;0.00652)		TTGGCGGCCCGCTGGAAGAAG	0.592													16	7					0	0	1	0	0	A	50500782	G	A	50500782	3	1	81	1	0	0	0	0	1	0	0	0	17281	1086	38	1	798	1	VRK3	19	50500782	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	18370	50500782	8628201	13831	17447											
ZNF473	25888	broad.mit.edu	37	19	50550015	50550015	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:50550015G>A	ENST00000595661.1	+	6	2810	c.2315G>A	c.(2314-2316)tGc>tAc	p.C772Y	ZNF473_ENST00000601364.1_Intron|CTD-2126E3.3_ENST00000599914.1_RNA|ZNF473_ENST00000445728.3_Missense_Mutation_p.C760Y|ZNF473_ENST00000270617.3_Missense_Mutation_p.C772Y|CTD-2126E3.3_ENST00000599410.1_RNA|ZNF473_ENST00000391821.2_Missense_Mutation_p.C772Y			Q8WTR7	ZN473_HUMAN	zinc finger protein 473	772					histone mRNA 3'-end processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription	Cajal body	DNA binding|protein binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37		all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)		CAGAGCTCATGCCTTTCTATT	0.512											OREG0025632	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	25	31					0	0	1	0	0	A	50550015	G	A	50550015	3	1	81	1	0	0	0	0	1	0	0	0	17988	1319	46	2	2329	2	ZNF473	19	50550015	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	49233	50550015	8578968	13832	17448											
MYH14	79784	broad.mit.edu	37	19	50720971	50720971	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:50720971G>A	ENST00000440075.2	+	3	552	c.505G>A	c.(505-507)Gag>Aag	p.E169K	MYH14_ENST00000601313.1_Missense_Mutation_p.E169K|MYH14_ENST00000376970.2_Missense_Mutation_p.E169K|MYH14_ENST00000425460.1_Missense_Mutation_p.E169K|MYH14_ENST00000598205.1_Missense_Mutation_p.E169K|MYH14_ENST00000596571.1_Missense_Mutation_p.E169K|MYH14_ENST00000262269.8_Missense_Mutation_p.E169K			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	169	Myosin head-like.				axon guidance|regulation of cell shape	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		GAAGCGCCACGAGGTGCCACC	0.612													40	51					0	0	1	0	0	A	50720971	G	A	50720971	3	1	81	1	0	0	0	0	1	0	0	0	10081	1059	37	1	511	1	MYH14	19	50720971	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	170956	50720971	8408012	13833	17449											
KCNC3	3748	broad.mit.edu	37	19	50826570	50826570	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:50826570G>A	ENST00000376959.2	-	2	1803	c.1640C>T	c.(1639-1641)tCg>tTg	p.S547L	KCNC3_ENST00000474951.1_Intron|KCNC3_ENST00000391818.2_Intron|KCNC3_ENST00000477616.1_Missense_Mutation_p.S547L			Q14003	KCNC3_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 3	547					cell death	voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(2)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)	13		all_neural(266;0.057)|Ovarian(192;0.208)		OV - Ovarian serous cystadenocarcinoma(262;0.00283)|GBM - Glioblastoma multiforme(134;0.0181)		CATGGCCAGCGAATAGTACAT	0.627													8	14					0	0	1	0	0	A	50826570	G	A	50826570	3	1	81	1	0	0	0	0	1	0	0	0	8060	1059	37	1	645	1	KCNC3	19	50826570	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	105599	50826570	8302413	13834	17450											
NAPSA	9476	broad.mit.edu	37	19	50864331	50864331	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:50864331C>T	ENST00000253719.2	-	5	743	c.535G>A	c.(535-537)Gct>Act	p.A179T	NR1H2_ENST00000600978.1_Intron|NR1H2_ENST00000542413.1_Intron	NM_004851.1	NP_004842.1	O96009	NAPSA_HUMAN	napsin A aspartic peptidase	179					proteolysis	extracellular region	aspartic-type endopeptidase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(3)	12		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0183)		TGGGCAAAAGCGAAGACCAGG	0.522													5	124					0	0	1	0	0	T	50864331	C	T	50864331	3	4	81	1	0	0	0	0	1	0	0	0	10214	768	27	1	747	1	NAPSA	19	50864331	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	37761	50864331	8264652	13835	17451											
NAPSA	9476	broad.mit.edu	37	19	50864365	50864365	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:50864365G>A	ENST00000253719.2	-	5	709	c.501C>T	c.(499-501)ttC>ttT	p.F167F	NR1H2_ENST00000600978.1_Intron|NR1H2_ENST00000542413.1_Intron	NM_004851.1	NP_004842.1	O96009	NAPSA_HUMAN	napsin A aspartic peptidase	167					proteolysis	extracellular region	aspartic-type endopeptidase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(3)	12		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0183)		GAGCCTCCCCGAAAATCACTG	0.517													19	96					0	0	1	0	0	A	50864365	G	A	50864365	2	1	81	1	0	0	0	0	0	0	0	1	10214	1049	37	1		1	NAPSA	19	50864365	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	34	50864365	8264618	13836	17452											
NR1H2	7376	broad.mit.edu	37	19	50881013	50881013	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:50881013G>A	ENST00000253727.5	+	4	302	c.67G>A	c.(67-69)Gcc>Acc	p.A23T	NR1H2_ENST00000593926.1_Missense_Mutation_p.A23T|NR1H2_ENST00000598168.1_Missense_Mutation_p.A23T|NR1H2_ENST00000542413.1_5'UTR|NR1H2_ENST00000411902.2_Missense_Mutation_p.A23T|NR1H2_ENST00000599105.1_Missense_Mutation_p.A23T	NM_007121.5	NP_009052	P55055	NR1H2_HUMAN	nuclear receptor subfamily 1, group H, member 2	23					negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of lipid transport|negative regulation of pinocytosis|negative regulation of transcription, DNA-dependent|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of triglyceride biosynthetic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding			endometrium(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(2)	8		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186)		TCAGCCTGGCGCCCCTTCTTC	0.632													12	20					0	0	1	0	0	A	50881013	G	A	50881013	3	1	81	1	0	0	0	0	1	0	0	0	10665	1087	38	1	73	1	NR1H2	19	50881013	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	16648	50881013	8247970	13837	17453											
POLD1	5424	broad.mit.edu	37	19	50918728	50918728	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:50918728C>T	ENST00000440232.2	+	21	2651	c.2598C>T	c.(2596-2598)gaC>gaT	p.D866D	POLD1_ENST00000599857.1_Silent_p.D866D|POLD1_ENST00000595904.1_Silent_p.D892D	NM_001256849.1|NM_002691.3	NP_001243778.1|NP_002682.2	P28340	DPOD1_HUMAN	polymerase (DNA directed), delta 1, catalytic subunit	866					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|DNA synthesis involved in DNA repair|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|response to UV|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	delta DNA polymerase complex|nucleoplasm|nucleotide-excision repair complex	3'-5'-exodeoxyribonuclease activity|chromatin binding|DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_neural(266;0.0571)		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)		ACGCACAGGACGTCATCTCGG	0.662								DNA polymerases (catalytic subunits)					13	22					0	0	1	0	0	T	50918728	C	T	50918728	2	4	81	1	0	0	0	0	0	0	0	1	12238	535	19	1		1	POLD1	19	50918728	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	37715	50918728	8210255	13838	17454											
MYBPC2	4606	broad.mit.edu	37	19	50939873	50939873	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:50939873G>T	ENST00000357701.5	+	5	396		c.e5-1			NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type						cell adhesion|muscle filament sliding	cytosol|myosin filament	actin binding|structural constituent of muscle			breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		CCTGGACCCAGGTGTACACCG	0.612													17	31					4.7546e-09	5.70666e-09	1	1	0	T	50939873	G	T	50939873	5	4	81	1	0	0	0	0	0	0	1	0	10060	1014	35	4	363	4	MYBPC2	19	50939873	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	21145	50939873	8189110	13839	17455											
MYBPC2	4606	broad.mit.edu	37	19	50940757	50940757	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:50940757G>T	ENST00000357701.5	+	6	542	c.491G>T	c.(490-492)aGt>aTt	p.S164I		NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type	164					cell adhesion|muscle filament sliding	cytosol|myosin filament	actin binding|structural constituent of muscle			breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		TCTGGGCAGAGTCTAGAAAGC	0.582													6	7					2.0095e-06	2.30238e-06	1	1	0	T	50940757	G	T	50940757	3	4	81	1	0	0	0	0	1	0	0	0	10060	1029	36	4	513	4	MYBPC2	19	50940757	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	884	50940757	8188226	13840	17456											
MYBPC2	4606	broad.mit.edu	37	19	50964891	50964891	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:50964891C>T	ENST00000357701.5	+	25	3075	c.3024C>T	c.(3022-3024)acC>acT	p.T1008T		NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type	1008	Fibronectin type-III 3.				cell adhesion|muscle filament sliding	cytosol|myosin filament	actin binding|structural constituent of muscle			breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		GAGTTTACACCGAGAACATCT	0.537											OREG0025636	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	14					0	0	1	0	0	T	50964891	C	T	50964891	2	4	81	1	0	0	0	0	0	0	0	1	10060	639	23	1		1	MYBPC2	19	50964891	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	24134	50964891	8164092	13841	17457											
ASPDH	554235	broad.mit.edu	37	19	51015686	51015686	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:51015686G>A	ENST00000389208.4	-	5	645	c.584C>T	c.(583-585)gCg>gTg	p.A195V	ASPDH_ENST00000597030.1_5'UTR|ASPDH_ENST00000376916.3_Missense_Mutation_p.A90V	NM_001114598.1	NP_001108070.1	A6ND91	ASPD_HUMAN	aspartate dehydrogenase domain containing	195					NAD biosynthetic process|NADP catabolic process		aspartate dehydrogenase activity|NADP binding			endometrium(1)|large_intestine(1)|lung(1)	3						GGCAGCCGCCGCCATGGTGTT	0.662													8	11					0	0	1	0	0	A	51015686	G	A	51015686	3	1	81	1	0	0	0	0	1	0	0	0	1050	1087	38	1	279	1	ASPDH	19	51015686	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	50795	51015686	8113297	13842	17458											
LRRC4B	94030	broad.mit.edu	37	19	51021413	51021413	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:51021413G>A	ENST00000599957.1	-	3	1754	c.1557C>T	c.(1555-1557)gaC>gaT	p.D519D	LRRC4B_ENST00000389201.3_Silent_p.D519D			Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B	519	Gly-rich.					cell junction|integral to membrane|presynaptic membrane				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	30		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		CCCAGACACCGTCTGTCGTGG	0.741													8	6					0	0	1	0	0	A	51021413	G	A	51021413	2	1	81	1	0	0	0	0	0	0	0	1	9052	1136	40	1		1	LRRC4B	19	51021413	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	5727	51021413	8107570	13843	17459											
LRRC4B	94030	broad.mit.edu	37	19	51022065	51022065	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:51022065C>T	ENST00000599957.1	-	3	1102	c.905G>A	c.(904-906)cGc>cAc	p.R302H	LRRC4B_ENST00000389201.3_Missense_Mutation_p.R302H			Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B	302						cell junction|integral to membrane|presynaptic membrane				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	30		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		GCGCTCGAGGCGGTGCAGGGG	0.637													36	50					0	0	1	0	0	T	51022065	C	T	51022065	3	4	81	1	0	0	0	0	1	0	0	0	9052	768	27	1	1240	1	LRRC4B	19	51022065	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	652	51022065	8106918	13844	17460											
LRRC4B	94030	broad.mit.edu	37	19	51022514	51022514	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:51022514C>A	ENST00000599957.1	-	3	653	c.456G>T	c.(454-456)caG>caT	p.Q152H	LRRC4B_ENST00000389201.3_Missense_Mutation_p.Q152H			Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B	152						cell junction|integral to membrane|presynaptic membrane				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	30		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		ACTCGAAGGCCTGCGTGGGCA	0.647													22	45					1.10513e-12	1.38486e-12	1	1	0	A	51022514	C	A	51022514	3	1	81	1	0	0	0	0	1	0	0	0	9052	680	24	4	1689	4	LRRC4B	19	51022514	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	449	51022514	8106469	13845	17461											
SYT3	84258	broad.mit.edu	37	19	51132654	51132654	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:51132654G>A	ENST00000338916.4	-	4	1811	c.1178C>T	c.(1177-1179)tCg>tTg	p.S393L	SYT3_ENST00000544769.1_Missense_Mutation_p.S393L|SYT3_ENST00000600079.1_Missense_Mutation_p.S393L|SYT3_ENST00000593901.1_Missense_Mutation_p.S393L	NM_032298.2	NP_115674.1	Q9BQG1	SYT3_HUMAN	synaptotagmin III	393	C2 1.					cell junction|endosome|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity	p.S393L(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(2)|skin(3)|urinary_tract(2)	35		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188)		GTCGTGCCGCGAGAAGCGGTC	0.637													10	19					0	0	1	0	0	A	51132654	G	A	51132654	3	1	81	1	0	0	0	0	1	0	0	0	15532	1059	37	1	614	1	SYT3	19	51132654	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	110140	51132654	7996329	13846	17462											
SHANK1	50944	broad.mit.edu	37	19	51169592	51169592	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:51169592G>T	ENST00000293441.1	-	22	5643	c.5625C>A	c.(5623-5625)agC>agA	p.S1875R	SYT3_ENST00000544769.1_Intron|SHANK1_ENST00000359082.3_Missense_Mutation_p.S1866R|SHANK1_ENST00000391814.1_Missense_Mutation_p.S1883R|SHANK1_ENST00000391813.1_Missense_Mutation_p.S1262R	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	1875					cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		GAAGCTTGGAGCTGAGTTCAC	0.697													7	15					0.00198382	0.00209725	1	1	0	T	51169592	G	T	51169592	3	4	81	1	0	0	0	0	1	0	0	0	14319	962	34	4	868	4	SHANK1	19	51169592	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	36938	51169592	7959391	13847	17463											
SHANK1	50944	broad.mit.edu	37	19	51190044	51190044	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:51190044C>T	ENST00000293441.1	-	19	2433	c.2415G>A	c.(2413-2415)gtG>gtA	p.V805V	SHANK1_ENST00000359082.3_Silent_p.V796V|SHANK1_ENST00000391814.1_Silent_p.V813V|SHANK1_ENST00000391813.1_Silent_p.V192V	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	805					cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		CCATGCTGGGCACCGGCGCCG	0.711													7	17					0	0	1	0	0	T	51190044	C	T	51190044	2	4	81	1	0	0	0	0	0	0	0	1	14319	697	25	2		2	SHANK1	19	51190044	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	20452	51190044	7938939	13848	17464											
GPR32	2854	broad.mit.edu	37	19	51274083	51274083	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:51274083G>A	ENST00000270590.4	+	1	363	c.226G>A	c.(226-228)Gtc>Atc	p.V76I		NM_001506.1	NP_001497.1	O75388	GPR32_HUMAN	G protein-coupled receptor 32	76						integral to plasma membrane	N-formyl peptide receptor activity			breast(4)|endometrium(4)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	29		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		GGCACGCACGGTCTCCACCGT	0.572													15	27					0	0	1	0	0	A	51274083	G	A	51274083	3	1	81	1	0	0	0	0	1	0	0	0	6728	1261	44	2	228	2	GPR32	19	51274083	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	84039	51274083	7854900	13849	17465											
GPR32	2854	broad.mit.edu	37	19	51274326	51274326	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:51274326C>T	ENST00000270590.4	+	1	606	c.469C>T	c.(469-471)Cgg>Tgg	p.R157W		NM_001506.1	NP_001497.1	O75388	GPR32_HUMAN	G protein-coupled receptor 32	157						integral to plasma membrane	N-formyl peptide receptor activity			breast(4)|endometrium(4)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	29		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		CACTGTGCAGCGGGCGAGCTG	0.597													7	63					0	0	1	0	0	T	51274326	C	T	51274326	3	4	81	1	0	0	0	0	1	0	0	0	6728	759	27	1	471	1	GPR32	19	51274326	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	243	51274326	7854657	13850	17466											
KLK1	3816	broad.mit.edu	37	19	51323632	51323632	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:51323632C>T	ENST00000301420.2	-	3	309	c.274G>A	c.(274-276)Gtc>Atc	p.V92I	KLK1_ENST00000448701.2_5'UTR	NM_002257.2	NP_002248.1	P06870	KLK1_HUMAN	kallikrein 1	92	Peptidase S1.				proteolysis	nucleus	serine-type endopeptidase activity			breast(1)|large_intestine(4)|lung(7)|urinary_tract(1)	13		all_neural(266;0.0199)		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00399)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CTCTCACTGACATGAACAAAC	0.552													63	124					0	0	1	0	0	T	51323632	C	T	51323632	3	4	81	1	0	0	0	0	1	0	0	0	8440	478	17	2	526	2	KLK1	19	51323632	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	49306	51323632	7805351	13851	17467											
KLK4	9622	broad.mit.edu	37	19	51411961	51411961	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:51411961G>T	ENST00000324041.1	-	3	348	c.349C>A	c.(349-351)Ctc>Atc	p.L117I	KLK4_ENST00000431178.2_Missense_Mutation_p.L68I	NM_004917.3	NP_004908.3	Q9Y5K2	KLK4_HUMAN	kallikrein-related peptidase 4	117	Peptidase S1.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(8)	19		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00624)|GBM - Glioblastoma multiforme(134;0.00878)		ATGAGCATGAGGTCGTTAGCG	0.597													8	61					5.18039e-06	5.88187e-06	1	1	0	T	51411961	G	T	51411961	3	4	81	1	0	0	0	0	1	0	0	0	8449	1000	35	4	427	4	KLK4	19	51411961	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	88329	51411961	7717022	13852	17468											
KLK4	9622	broad.mit.edu	37	19	51412622	51412622	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:51412622C>T	ENST00000324041.1	-	2	109	c.110G>A	c.(109-111)tGc>tAc	p.C37Y		NM_004917.3	NP_004908.3	Q9Y5K2	KLK4_HUMAN	kallikrein-related peptidase 4	37	Peptidase S1.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(8)	19		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00624)|GBM - Glioblastoma multiforme(134;0.00878)		GTGCGGGCTGCAGTCCTCGCC	0.642													12	210					0	0	1	0	0	T	51412622	C	T	51412622	3	4	81	1	0	0	0	0	1	0	0	0	8449	710	25	2	670	2	KLK4	19	51412622	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	661	51412622	7716361	13853	17469											
KLK5	25818	broad.mit.edu	37	19	51452340	51452340	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:51452340G>T	ENST00000336334.3	-	4	719	c.367C>A	c.(367-369)Ctg>Atg	p.L123M	KLK5_ENST00000593428.1_Missense_Mutation_p.L123M|KLK5_ENST00000391809.2_Missense_Mutation_p.L123M	NM_012427.4	NP_036559	Q9Y337	KLK5_HUMAN	kallikrein-related peptidase 5	123	Peptidase S1.				epidermis development|positive regulation of G-protein coupled receptor protein signaling pathway|proteolysis	extracellular space	protein binding|serine-type endopeptidase activity			NS(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	15		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00379)|GBM - Glioblastoma multiforme(134;0.00888)		ACTGGTGACAGGGAGTAGTGG	0.562													22	76					5.35356e-11	6.60132e-11	1	1	0	T	51452340	G	T	51452340	3	4	81	1	0	0	0	0	1	0	0	0	8450	991	35	4	526	4	KLK5	19	51452340	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	39718	51452340	7676643	13854	17470											
KLK11	11012	broad.mit.edu	37	19	51527961	51527961	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:51527961G>A	ENST00000594768.1	-	3	411	c.226C>T	c.(226-228)Cgg>Tgg	p.R76W	KLK11_ENST00000453757.3_Missense_Mutation_p.R44W|KLK11_ENST00000391804.3_Missense_Mutation_p.R44W|KLK11_ENST00000319720.7_Missense_Mutation_p.R44W|KLK11_ENST00000594458.1_5'UTR|KLK11_ENST00000600362.1_Intron	NM_144947.1	NP_659196.1	Q9UBX7	KLK11_HUMAN	kallikrein-related peptidase 11	76	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(1)	7		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00327)|GBM - Glioblastoma multiforme(134;0.00878)		CAGAGTAGCCGCGTCTTCTCG	0.682													7	9					0	0	1	0	0	A	51527961	G	A	51527961	3	1	81	1	0	0	0	0	1	0	0	0	8442	1086	38	1	713	1	KLK11	19	51527961	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	75621	51527961	7601022	13855	17471											
KLK13	26085	broad.mit.edu	37	19	51559997	51559997	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:51559997T>C	ENST00000595793.1	-	5	723	c.681A>G	c.(679-681)acA>acG	p.T227T	KLK13_ENST00000595547.1_Silent_p.T154T|KLK13_ENST00000335422.3_Silent_p.T75T	NM_015596.1	NP_056411.1	Q9UKR3	KLK13_HUMAN	kallikrein-related peptidase 13	227	Peptidase S1.				proteolysis		protein binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|skin(1)	16		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00432)		TGCCATACAGTGTTCTGTTAC	0.572													8	72					0	0	1	0	0	C	51559997	T	C	51559997	2	2	81	1	0	0	0	0	0	0	0	1	8444	1683	59	3		3	KLK13	19	51559997	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	32036	51559997	7568986	13856	17472											
SIGLEC9	27180	broad.mit.edu	37	19	51628933	51628933	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:51628933C>A	ENST00000440804.3	+	2	568	c.501C>A	c.(499-501)ccC>ccA	p.P167P	SIGLEC9_ENST00000250360.3_Silent_p.P167P	NM_001198558.1	NP_001185487.1	Q9Y336	SIGL9_HUMAN	sialic acid binding Ig-like lectin 9	167	Ig-like C2-type 1.				cell adhesion|cell surface receptor linked signaling pathway	integral to plasma membrane	sugar binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	45		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)		GCTCTGTGCCCTGGGCCTGTG	0.657													6	99					3.59834e-05	3.99423e-05	1	1	0	A	51628933	C	A	51628933	2	1	81	1	0	0	0	0	0	0	0	1	14370	668	24	4		4	SIGLEC9	19	51628933	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	68936	51628933	7500050	13857	17473											
CD33	945	broad.mit.edu	37	19	51728765	51728765	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:51728765G>T	ENST00000262262.4	+	2	350	c.329G>T	c.(328-330)aGg>aTg	p.R110M	CD33_ENST00000436584.2_Intron|CD33_ENST00000421133.2_Intron|CD33_ENST00000391796.3_Missense_Mutation_p.R110M	NM_001772.3	NP_001763.3	P20138	CD33_HUMAN	CD33 molecule	110	Ig-like V-type.				cell adhesion|cell-cell signaling|negative regulation of cell proliferation	external side of plasma membrane|integral to plasma membrane	receptor activity|sugar binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(15)|skin(1)|stomach(1)	24		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468)	Gemtuzumab ozogamicin(DB00056)	GACGCCAGGAGGAGGGATAAT	0.512													7	52					8.12818e-05	8.94031e-05	1	1	0	T	51728765	G	T	51728765	3	4	81	1	0	0	0	0	1	0	0	0	3027	1000	35	4	335	4	CD33	19	51728765	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	99832	51728765	7400218	13858	17474											
IGLON5	402665	broad.mit.edu	37	19	51828610	51828610	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:51828610C>T	ENST00000270642.8	+	4	402	c.402C>T	c.(400-402)cgC>cgT	p.R134R		NM_001101372.1	NP_001094842.1	A6NGN9	IGLO5_HUMAN	IgLON family member 5	134	Ig-like C2-type 2.					extracellular region				large_intestine(5)|lung(6)|prostate(1)	12						TCCCTGCCCGCATTGTGAACA	0.647													9	19					0	0	1	0	0	T	51828610	C	T	51828610	2	4	81	1	0	0	0	0	0	0	0	1	7639	697	25	2		2	IGLON5	19	51828610	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	99845	51828610	7300373	13859	17475											
CLDND2	125875	broad.mit.edu	37	19	51871826	51871826	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:51871826C>T	ENST00000291715.1	-	1	431	c.6G>A	c.(4-6)ggG>ggA	p.G2G	CLDND2_ENST00000601435.1_Silent_p.G2G	NM_152353.2	NP_689566.1	Q8NHS1	CLDN2_HUMAN	claudin domain containing 2	2						integral to membrane				endometrium(1)|kidney(1)|large_intestine(2)	4		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000211)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		TCCGCTTCACCCCCATGCCAC	0.672													10	11					0	0	1	0	0	T	51871826	C	T	51871826	2	4	81	1	0	0	0	0	0	0	0	1	3517	610	22	2		2	CLDND2	19	51871826	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	43216	51871826	7257157	13860	17476											
SIGLEC8	27181	broad.mit.edu	37	19	51955822	51955822	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:51955822G>T	ENST00000321424.3	-	7	1377	c.1311C>A	c.(1309-1311)ccC>ccA	p.P437P	SIGLEC8_ENST00000430817.1_Silent_p.P328P|SIGLEC8_ENST00000340550.5_Silent_p.P344P	NM_014442.2	NP_055257.2	Q9NYZ4	SIGL8_HUMAN	sialic acid binding Ig-like lectin 8	437					cell adhesion	integral to membrane	sugar binding|transmembrane receptor activity			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		CCCCTGACGAGGGGGCAACAG	0.572													7	40					0.000157383	0.000171784	1	1	0	T	51955822	G	T	51955822	2	4	81	1	0	0	0	0	0	0	0	1	14369	987	35	4		4	SIGLEC8	19	51955822	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	83996	51955822	7173161	13861	17477											
SIGLEC8	27181	broad.mit.edu	37	19	51958020	51958020	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:51958020C>T	ENST00000321424.3	-	5	1132	c.1066G>A	c.(1066-1068)Gta>Ata	p.V356I	SIGLEC8_ENST00000430817.1_Missense_Mutation_p.V247I|SIGLEC8_ENST00000340550.5_Missense_Mutation_p.V263I	NM_014442.2	NP_055257.2	Q9NYZ4	SIGL8_HUMAN	sialic acid binding Ig-like lectin 8	356					cell adhesion	integral to membrane	sugar binding|transmembrane receptor activity			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		ACTTGTGATACAGGTCTTGAG	0.557													4	49					0	0	1	0	0	T	51958020	C	T	51958020	3	4	81	1	0	0	0	0	1	0	0	0	14369	478	17	2	445	2	SIGLEC8	19	51958020	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2198	51958020	7170963	13862	17478											
SIGLEC8	27181	broad.mit.edu	37	19	51958909	51958909	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:51958909A>C	ENST00000321424.3	-	4	880	c.814T>G	c.(814-816)Tca>Gca	p.S272A	SIGLEC8_ENST00000430817.1_Missense_Mutation_p.S163A|SIGLEC8_ENST00000340550.5_Missense_Mutation_p.S179A|SIGLEC8_ENST00000597352.1_5'UTR	NM_014442.2	NP_055257.2	Q9NYZ4	SIGL8_HUMAN	sialic acid binding Ig-like lectin 8	272	Ig-like C2-type 2.				cell adhesion	integral to membrane	sugar binding|transmembrane receptor activity			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		TCAAGGACTGAAAGAGATGAG	0.562													4	41					0	0	1	0	0	C	51958909	A	C	51958909	3	2	81	1	0	0	0	0	1	0	0	0	14369	246	9	5	701	5	SIGLEC8	19	51958909	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	889	51958909	7170074	13863	17479											
SIGLEC8	27181	broad.mit.edu	37	19	51961369	51961369	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:51961369C>A	ENST00000321424.3	-	1	339	c.273G>T	c.(271-273)gaG>gaT	p.E91D	SIGLEC8_ENST00000430817.1_Missense_Mutation_p.E91D|SIGLEC8_ENST00000340550.5_Missense_Mutation_p.E91D	NM_014442.2	NP_055257.2	Q9NYZ4	SIGL8_HUMAN	sialic acid binding Ig-like lectin 8	91	Ig-like V-type.				cell adhesion	integral to membrane	sugar binding|transmembrane receptor activity			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		GGCCCTGGGTCTCTGCCTGCA	0.552													36	72					8.16277e-20	1.0641e-19	1	1	0	A	51961369	C	A	51961369	3	1	81	1	0	0	0	0	1	0	0	0	14369	912	32	4	1254	4	SIGLEC8	19	51961369	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2460	51961369	7167614	13864	17480											
SIGLEC8	27181	broad.mit.edu	37	19	51961460	51961460	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:51961460G>A	ENST00000321424.3	-	1	248	c.182C>T	c.(181-183)cCa>cTa	p.P61L	SIGLEC8_ENST00000430817.1_Missense_Mutation_p.P61L|SIGLEC8_ENST00000340550.5_Missense_Mutation_p.P61L	NM_014442.2	NP_055257.2	Q9NYZ4	SIGL8_HUMAN	sialic acid binding Ig-like lectin 8	61	Ig-like V-type.				cell adhesion	integral to membrane	sugar binding|transmembrane receptor activity			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		GCCATGAACTGGGTCAGAGTC	0.602													33	43					0	0	1	0	0	A	51961460	G	A	51961460	3	1	81	1	0	0	0	0	1	0	0	0	14369	1348	47	2	1345	2	SIGLEC8	19	51961460	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	91	51961460	7167523	13865	17481											
SIGLEC12	89858	broad.mit.edu	37	19	52004674	52004674	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:52004674G>A	ENST00000291707.3	-	1	369	c.314C>T	c.(313-315)aCc>aTc	p.T105I		NM_053003.2	NP_443729.1	Q96PQ1	SIG12_HUMAN	sialic acid binding Ig-like lectin 12 (gene/pseudogene)	105	Ig-like V-type 1.				cell adhesion	integral to membrane	sugar binding			NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)	61		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)		GATGCTCAGGGTACAATCCTT	0.498													58	89					0	0	1	0	0	A	52004674	G	A	52004674	3	1	81	1	0	0	0	0	1	0	0	0	14363	1261	44	2	1578	2	SIGLEC12	19	52004674	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	43214	52004674	7124309	13866	17482											
SIGLEC6	946	broad.mit.edu	37	19	52032990	52032990	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:52032990G>A	ENST00000346477.3	-	4	1020	c.952C>T	c.(952-954)Ctc>Ttc	p.L318F	SIGLEC6_ENST00000343300.4_Missense_Mutation_p.L334F|SIGLEC6_ENST00000436458.1_Missense_Mutation_p.L282F|SIGLEC6_ENST00000425629.3_Missense_Mutation_p.L334F|SIGLEC6_ENST00000359982.4_Missense_Mutation_p.L345F|SIGLEC6_ENST00000391797.3_Missense_Mutation_p.L323F	NM_198845.4	NP_942142.3	O43699	SIGL6_HUMAN	sialic acid binding Ig-like lectin 6	334	Ig-like C2-type 2.				cell adhesion|cell-cell signaling	cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus				endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1)	28		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)		TGCACAAAGAGACTCAGAGAG	0.577													14	7					0	0	1	0	0	A	52032990	G	A	52032990	3	1	81	1	0	0	0	0	1	0	0	0	14367	942	33	2	377	2	SIGLEC6	19	52032990	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	28316	52032990	7095993	13867	17483											
ZNF175	7728	broad.mit.edu	37	19	52091117	52091117	+	Silent	SNP	C	C	A	rs140917490		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:52091117C>A	ENST00000262259.2	+	5	1891	c.1533C>A	c.(1531-1533)acC>acA	p.T511T	ZNF175_ENST00000436511.2_Intron	NM_007147.2	NP_009078.1	Q9Y473	ZN175_HUMAN	zinc finger protein 175	511					response to virus	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000426)|OV - Ovarian serous cystadenocarcinoma(262;0.0257)		GTGGAAAAACCTTCACCCAAA	0.413													15	25					1.5739e-10	1.93127e-10	1	1	0	A	52091117	C	A	52091117	2	1	81	1	0	0	0	0	0	0	0	1	17803	668	24	4		4	ZNF175	19	52091117	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	58127	52091117	7037866	13868	17484											
ZNF175	7728	broad.mit.edu	37	19	52091537	52091537	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:52091537G>A	ENST00000262259.2	+	5	2311	c.1953G>A	c.(1951-1953)tcG>tcA	p.S651S	ZNF175_ENST00000436511.2_Intron	NM_007147.2	NP_009078.1	Q9Y473	ZN175_HUMAN	zinc finger protein 175	651					response to virus	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000426)|OV - Ovarian serous cystadenocarcinoma(262;0.0257)		GTGGGAAATCGTTCAGTAAGA	0.438													29	50					0	0	1	0	0	A	52091537	G	A	52091537	2	1	81	1	0	0	0	0	0	0	0	1	17803	1132	40	1		1	ZNF175	19	52091537	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	420	52091537	7037446	13869	17485											
FPR2	2358	broad.mit.edu	37	19	52272593	52272593	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:52272593A>C	ENST00000598776.1	+	2	1454	c.682A>C	c.(682-684)Atc>Ctc	p.I228L	FPR2_ENST00000598953.1_Missense_Mutation_p.I228L|FPR2_ENST00000340023.6_Missense_Mutation_p.I228L	NM_001462.3	NP_001453.1	P25090	FPR2_HUMAN	formyl peptide receptor 2	228					cell adhesion|cellular component movement|chemotaxis|inflammatory response	integral to membrane|plasma membrane	N-formyl peptide receptor activity			endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33						TGCAGCCAAGATCCACAAAAA	0.493													23	24					0	0	1	0	0	C	52272593	A	C	52272593	3	2	81	1	0	0	0	0	1	0	0	0	6073	333	12	4	684	4	FPR2	19	52272593	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	181056	52272593	6856390	13870	17486											
FPR3	2359	broad.mit.edu	37	19	52327770	52327770	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:52327770T>C	ENST00000339223.4	+	2	948	c.769T>C	c.(769-771)Tat>Cat	p.Y257H	FPR3_ENST00000595991.1_Missense_Mutation_p.Y257H	NM_002030.3	NP_002021.3	P25089	FPR3_HUMAN	formyl peptide receptor 3	257					cellular component movement|chemotaxis	integral to membrane|plasma membrane	N-formyl peptide receptor activity			NS(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)	35						TTGGTTCCCTTATGAACTAAT	0.423													4	60					0	0	1	0	0	C	52327770	T	C	52327770	3	2	81	1	0	0	0	0	1	0	0	0	6074	1754	61	3	771	3	FPR3	19	52327770	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	55177	52327770	6801213	13871	17487											
ZNF577	84765	broad.mit.edu	37	19	52376558	52376558	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:52376558G>T	ENST00000420592.1	-	6	1841	c.508C>A	c.(508-510)Ctc>Atc	p.L170I	ZNF577_ENST00000485702.1_Intron|ZNF577_ENST00000451628.2_Missense_Mutation_p.L170I|ZNF577_ENST00000301399.5_Missense_Mutation_p.L229I|ZNF577_ENST00000412216.1_Intron			Q9BSK1	ZN577_HUMAN	zinc finger protein 577	229					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		TGGACCATGAGCTGTGACTTT	0.498													10	20					0.000442599	0.000477972	1	1	0	T	52376558	G	T	52376558	3	4	81	1	0	0	0	0	1	0	0	0	18066	971	34	4	776	4	ZNF577	19	52376558	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	48788	52376558	6752425	13872	17488											
ZNF577	84765	broad.mit.edu	37	19	52376920	52376920	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:52376920G>T	ENST00000301399.5	-	7	688	c.323C>A	c.(322-324)tCt>tAt	p.S108Y	ZNF577_ENST00000485702.1_Intron|ZNF577_ENST00000420592.1_Intron|ZNF577_ENST00000451628.2_Intron|ZNF577_ENST00000412216.1_Intron	NM_032679.2	NP_116068.2	Q9BSK1	ZN577_HUMAN	zinc finger protein 577	108					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		AAATGCATCAGAATCTTTTCC	0.378													9	53					3.09899e-07	3.60815e-07	1	1	0	T	52376920	G	T	52376920	3	4	81	1	0	0	0	0	1	0	0	0	18066	942	33	4	1138	4	ZNF577	19	52376920	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	362	52376920	6752063	13873	17489											
ZNF649	65251	broad.mit.edu	37	19	52394115	52394115	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:52394115G>A	ENST00000354957.3	-	5	1558	c.1274C>T	c.(1273-1275)aCg>aTg	p.T425M	ZNF649_ENST00000600738.1_Missense_Mutation_p.T397M|CTC-429C10.2_ENST00000600329.1_RNA	NM_023074.3	NP_075562.2	Q9BS31	ZN649_HUMAN	zinc finger protein 649	425					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	29		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00152)|OV - Ovarian serous cystadenocarcinoma(262;0.0185)		TCTCTCTCCCGTGTGAGTTCT	0.433													88	135					0	0	1	0	0	A	52394115	G	A	52394115	3	1	81	1	0	0	0	0	1	0	0	0	18121	1145	40	1	247	1	ZNF649	19	52394115	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	17195	52394115	6734868	13874	17490											
ZNF649	65251	broad.mit.edu	37	19	52394292	52394292	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:52394292C>A	ENST00000354957.3	-	5	1381	c.1097G>T	c.(1096-1098)aGa>aTa	p.R366I	ZNF649_ENST00000600738.1_Missense_Mutation_p.R338I|CTC-429C10.2_ENST00000600329.1_RNA	NM_023074.3	NP_075562.2	Q9BS31	ZN649_HUMAN	zinc finger protein 649	366					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	29		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00152)|OV - Ovarian serous cystadenocarcinoma(262;0.0185)		TGTATGATATCTCTGATGTGC	0.453													23	36					2.70639e-06	3.09322e-06	1	1	0	A	52394292	C	A	52394292	3	1	81	1	0	0	0	0	1	0	0	0	18121	913	32	4	424	4	ZNF649	19	52394292	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	177	52394292	6734691	13875	17491											
ZNF613	79898	broad.mit.edu	37	19	52448086	52448086	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:52448086G>A	ENST00000293471.6	+	6	1629	c.950G>A	c.(949-951)gGa>gAa	p.G317E	ZNF613_ENST00000391794.4_Missense_Mutation_p.G281E	NM_001031721.3	NP_001026891.2	Q6PF04	ZN613_HUMAN	zinc finger protein 613	317					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	19		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.0183)		AAACCACATGGATGCAGCCTG	0.458													21	34					0	0	1	0	0	A	52448086	G	A	52448086	3	1	81	1	0	0	0	0	1	0	0	0	18095	1174	41	2	964	2	ZNF613	19	52448086	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	53794	52448086	6680897	13876	17492											
ZNF613	79898	broad.mit.edu	37	19	52448197	52448197	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:52448197G>A	ENST00000293471.6	+	6	1740	c.1061G>A	c.(1060-1062)cGc>cAc	p.R354H	ZNF613_ENST00000601794.1_3'UTR|ZNF613_ENST00000391794.4_Missense_Mutation_p.R318H	NM_001031721.3	NP_001026891.2	Q6PF04	ZN613_HUMAN	zinc finger protein 613	354					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	19		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.0183)		AAAGCATTCCGCTGGAAATCA	0.458													44	48					0	0	1	0	0	A	52448197	G	A	52448197	3	1	81	1	0	0	0	0	1	0	0	0	18095	1087	38	1	1075	1	ZNF613	19	52448197	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	111	52448197	6680786	13877	17493											
ZNF613	79898	broad.mit.edu	37	19	52448941	52448941	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:52448941C>A	ENST00000293471.6	+	6	2484	c.1805C>A	c.(1804-1806)cCt>cAt	p.P602H	ZNF613_ENST00000601794.1_Intron|ZNF613_ENST00000391794.4_Missense_Mutation_p.P566H	NM_001031721.3	NP_001026891.2	Q6PF04	ZN613_HUMAN	zinc finger protein 613	602					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	19		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.0183)		GTGAGCCAGCCTGTTGCCAGA	0.438													10	16					7.03913e-09	8.42519e-09	1	1	0	A	52448941	C	A	52448941	3	1	81	1	0	0	0	0	1	0	0	0	18095	681	24	4	1819	4	ZNF613	19	52448941	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	744	52448941	6680042	13878	17494											
ZNF350	59348	broad.mit.edu	37	19	52468952	52468952	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:52468952G>A	ENST00000243644.4	-	5	981	c.754C>T	c.(754-756)Cat>Tat	p.H252Y	HCCAT3_ENST00000595010.1_RNA|HCCAT3_ENST00000600253.1_RNA	NM_021632.3	NP_067645.3	Q9GZX5	ZN350_HUMAN	zinc finger protein 350	252					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix|transcriptional repressor complex	DNA binding|protein binding|zinc ion binding			breast(4)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		all_neural(266;0.0505)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0179)		GTTCGCTGATGTTCAGTAAGC	0.428													11	93					0	0	1	0	0	A	52468952	G	A	52468952	3	1	81	1	0	0	0	0	1	0	0	0	17920	1377	48	2	848	2	ZNF350	19	52468952	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	20011	52468952	6660031	13879	17495											
ZNF615	284370	broad.mit.edu	37	19	52497112	52497112	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:52497112C>T	ENST00000602063.1	-	6	1566	c.1217G>A	c.(1216-1218)gGa>gAa	p.G406E	ZNF615_ENST00000598071.1_Missense_Mutation_p.G417E|ZNF615_ENST00000376716.5_Missense_Mutation_p.G406E|ZNF615_ENST00000594083.1_Missense_Mutation_p.G417E|ZNF615_ENST00000391795.3_Missense_Mutation_p.G411E			Q8N8J6	ZN615_HUMAN	zinc finger protein 615	406					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(5)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	42		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		AAAGCCTTTTCCACATTCACT	0.388													5	61					0	0	1	0	0	T	52497112	C	T	52497112	3	4	81	1	0	0	0	0	1	0	0	0	18097	855	30	2	982	2	ZNF615	19	52497112	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	28160	52497112	6631871	13880	17496											
ZNF615	284370	broad.mit.edu	37	19	52497775	52497775	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:52497775G>T	ENST00000602063.1	-	6	903	c.554C>A	c.(553-555)cCt>cAt	p.P185H	ZNF615_ENST00000598071.1_Missense_Mutation_p.P196H|ZNF615_ENST00000376716.5_Missense_Mutation_p.P185H|ZNF615_ENST00000594083.1_Missense_Mutation_p.P196H|ZNF615_ENST00000391795.3_Missense_Mutation_p.P190H			Q8N8J6	ZN615_HUMAN	zinc finger protein 615	185					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(5)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	42		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		CTTATTAATAGGTTTTGCAAT	0.373													11	130					4.68919e-08	5.54405e-08	1	1	0	T	52497775	G	T	52497775	3	4	81	1	0	0	0	0	1	0	0	0	18097	1000	35	4	1645	4	ZNF615	19	52497775	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	663	52497775	6631208	13881	17497											
ZNF432	9668	broad.mit.edu	37	19	52537990	52537990	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:52537990C>A	ENST00000594154.1	-	5	1154	c.942G>T	c.(940-942)gaG>gaT	p.E314D	ZNF432_ENST00000221315.5_Missense_Mutation_p.E314D			O94892	ZN432_HUMAN	zinc finger protein 432	314					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	29		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.0054)|OV - Ovarian serous cystadenocarcinoma(262;0.0182)		TATAGGATTTCTCTCCAGTAT	0.418													7	110					2.0095e-06	2.30238e-06	1	1	0	A	52537990	C	A	52537990	3	1	81	1	0	0	0	0	1	0	0	0	17963	912	32	4	1020	4	ZNF432	19	52537990	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	40215	52537990	6590993	13882	17498											
ZNF616	90317	broad.mit.edu	37	19	52618207	52618207	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:52618207C>T	ENST00000600228.1	-	4	2471	c.2210G>A	c.(2209-2211)aGa>aAa	p.R737K	ZNF616_ENST00000330123.5_3'UTR	NM_178523.3	NP_848618.2	Q08AN1	ZN616_HUMAN	zinc finger protein 616	737					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48				GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)		AGAATGAATTCTTTGGTGTTT	0.398													5	104					0	0	1	0	0	T	52618207	C	T	52618207	3	4	81	1	0	0	0	0	1	0	0	0	18098	913	32	2	139	2	ZNF616	19	52618207	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	80217	52618207	6510776	13883	17499											
ZNF836	162962	broad.mit.edu	37	19	52660166	52660166	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:52660166C>T	ENST00000322146.8	-	5	1291	c.770G>A	c.(769-771)cGg>cAg	p.R257Q	ZNF836_ENST00000597252.1_Missense_Mutation_p.R257Q|CTC-471J1.8_ENST00000594362.1_RNA	NM_001102657.1	NP_001096127.1	Q6ZNA1	ZN836_HUMAN	zinc finger protein 836	257					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						TAGTGAGCCCCGATGAAAGGC	0.403													19	25					0	0	1	0	0	T	52660166	C	T	52660166	3	4	81	1	0	0	0	0	1	0	0	0	18234	652	23	1	2042	1	ZNF836	19	52660166	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	41959	52660166	6468817	13884	17500											
ZNF766	90321	broad.mit.edu	37	19	52785424	52785424	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:52785424G>T	ENST00000439461.1	+	2	122	c.79G>T	c.(79-81)Gac>Tac	p.D27Y	ZNF766_ENST00000593612.1_Missense_Mutation_p.D42Y|ZNF766_ENST00000600821.1_Missense_Mutation_p.D22Y|ZNF766_ENST00000599581.1_Missense_Mutation_p.D27Y|ZNF766_ENST00000359102.4_Missense_Mutation_p.D42Y	NM_001010851.2	NP_001010851.1	Q5HY98	ZN766_HUMAN	zinc finger protein 766	27	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	17				GBM - Glioblastoma multiforme(134;0.00236)|OV - Ovarian serous cystadenocarcinoma(262;0.00871)		GAAATGCCTGGACCCTGTGCA	0.488													18	149					9.16793e-09	1.09544e-08	1	1	0	T	52785424	G	T	52785424	3	4	81	1	0	0	0	0	1	0	0	0	18190	1174	41	5	85	5	ZNF766	19	52785424	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	125258	52785424	6343559	13885	17501											
ZNF766	90321	broad.mit.edu	37	19	52793382	52793382	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:52793382C>T	ENST00000439461.1	+	4	381	c.338C>T	c.(337-339)aCc>aTc	p.T113I	CTD-2525I3.5_ENST00000594865.1_RNA|ZNF766_ENST00000593612.1_Missense_Mutation_p.T128I|ZNF766_ENST00000599581.1_3'UTR|ZNF766_ENST00000359102.4_Missense_Mutation_p.T128I	NM_001010851.2	NP_001010851.1	Q5HY98	ZN766_HUMAN	zinc finger protein 766	113					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	17				GBM - Glioblastoma multiforme(134;0.00236)|OV - Ovarian serous cystadenocarcinoma(262;0.00871)		CTTGGATTAACCTTTCAGTTA	0.393													31	32					0	0	1	0	0	T	52793382	C	T	52793382	3	4	81	1	0	0	0	0	1	0	0	0	18190	507	18	2	352	2	ZNF766	19	52793382	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	7958	52793382	6335601	13886	17502											
ZNF480	147657	broad.mit.edu	37	19	52825153	52825153	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:52825153G>T	ENST00000595962.1	+	5	716	c.650G>T	c.(649-651)aGc>aTc	p.S217I	CTD-2525I3.6_ENST00000594379.1_RNA|ZNF480_ENST00000334564.7_Missense_Mutation_p.S174I|ZNF480_ENST00000490272.1_3'UTR|ZNF480_ENST00000335090.6_Missense_Mutation_p.S140I	NM_144684.2	NP_653285.2	Q8WV37	ZN480_HUMAN	zinc finger protein 480	217					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	12				GBM - Glioblastoma multiforme(134;0.00212)|OV - Ovarian serous cystadenocarcinoma(262;0.00369)		GTATCTTCCAGCCTTACTAAA	0.363													24	54					2.21704e-12	2.77053e-12	1	1	0	T	52825153	G	T	52825153	3	4	81	1	0	0	0	0	1	0	0	0	17992	971	34	4	664	4	ZNF480	19	52825153	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	31771	52825153	6303830	13887	17503											
ZNF880	400713	broad.mit.edu	37	19	52887684	52887684	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:52887684C>T	ENST00000422689.2	+	4	866	c.851C>T	c.(850-852)gCa>gTa	p.A284V		NM_001145434.1	NP_001138906.1	Q6PDB4	ZN880_HUMAN	zinc finger protein 880	284					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1)	10						TCTCACCTTGCAAATCATCAC	0.408													4	20					0	0	1	0	0	T	52887684	C	T	52887684	3	4	81	1	0	0	0	0	1	0	0	0	18240	710	25	2	865	2	ZNF880	19	52887684	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	62531	52887684	6241299	13888	17504											
ZNF528	84436	broad.mit.edu	37	19	52909181	52909181	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:52909181G>A	ENST00000391788.2	+	5	530	c.7G>A	c.(7-9)Gtg>Atg	p.V3M	ZNF528_ENST00000360465.3_Missense_Mutation_p.V13M|ZNF528_ENST00000594530.1_Missense_Mutation_p.V13M|ZNF528_ENST00000598192.1_Missense_Mutation_p.V13M			Q3MIS6	ZN528_HUMAN	zinc finger protein 528	13					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(6)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	39				GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817)		ATTCATGGATGTGGCCATAGA	0.458													67	107					0	0	1	0	0	A	52909181	G	A	52909181	3	1	81	1	0	0	0	0	1	0	0	0	18026	1377	48	2	43	2	ZNF528	19	52909181	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	21497	52909181	6219802	13889	17505											
ZNF528	84436	broad.mit.edu	37	19	52909767	52909767	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:52909767G>T	ENST00000391788.2	+	6	635		c.e6-1		ZNF528_ENST00000360465.3_Splice_Site|ZNF528_ENST00000594530.1_Splice_Site|ZNF528_ENST00000598192.1_Splice_Site			Q3MIS6	ZN528_HUMAN	zinc finger protein 528						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.?(1)		breast(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(6)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	39				GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817)		TTTATAAATAGGAATCTGTCT	0.403													11	48					4.3838e-07	5.09097e-07	1	1	0	T	52909767	G	T	52909767	5	4	81	1	0	0	0	0	0	0	1	0	18026	1014	35	4	152	4	ZNF528	19	52909767	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	586	52909767	6219216	13890	17506											
ZNF528	84436	broad.mit.edu	37	19	52909844	52909844	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:52909844G>T	ENST00000391788.2	+	6	712	c.189G>T	c.(187-189)gaG>gaT	p.E63D	ZNF528_ENST00000360465.3_Missense_Mutation_p.E73D|ZNF528_ENST00000594530.1_Missense_Mutation_p.E73D|ZNF528_ENST00000598192.1_Missense_Mutation_p.E73D			Q3MIS6	ZN528_HUMAN	zinc finger protein 528	73	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(6)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	39				GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817)		AGAGTGAAGAGAAAATAGCAA	0.443													15	51					4.14922e-12	5.17332e-12	1	1	0	T	52909844	G	T	52909844	3	4	81	1	0	0	0	0	1	0	0	0	18026	933	33	4	229	4	ZNF528	19	52909844	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	77	52909844	6219139	13891	17507											
ZNF528	84436	broad.mit.edu	37	19	52918740	52918740	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:52918740C>A	ENST00000360465.3	+	7	1061	c.635C>A	c.(634-636)cCt>cAt	p.P212H	ZNF528_ENST00000391788.2_3'UTR	NM_032423.2	NP_115799.2	Q3MIS6	ZN528_HUMAN	zinc finger protein 528	212					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(6)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	39				GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817)		GCAGATAATCCTTACAAATGC	0.398													6	76					0.217242	0.218703	1	1	0	A	52918740	C	A	52918740	3	1	81	1	0	0	0	0	1	0	0	0	18026	681	24	4	649	4	ZNF528	19	52918740	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	8896	52918740	6210243	13892	17508											
ZNF578	147660	broad.mit.edu	37	19	53007958	53007958	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:53007958G>T	ENST00000421239.2	+	5	358	c.114G>T	c.(112-114)tgG>tgT	p.W38C		NM_001099694.1	NP_001093164.1	Q96N58	ZN578_HUMAN	zinc finger protein 578	0					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding								GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)		TGGCAGAGTGGAAATTCCTGA	0.458													54	97					2.76378e-25	3.65519e-25	1	1	0	T	53007958	G	T	53007958	3	4	81	1	0	0	0	0	1	0	0	0	18067	1183	41	5	120	5	ZNF578	19	53007958	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	89218	53007958	6121025	13893	17509											
ZNF808	388558	broad.mit.edu	37	19	53050821	53050821	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:53050821C>A	ENST00000359798.4	+	4	300	c.120C>A	c.(118-120)ttC>ttA	p.F40L		NM_001039886.3	NP_001034975.2	Q8N4W9	ZN808_HUMAN	zinc finger protein 808	40	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(8)|kidney(3)|lung(12)|urinary_tract(1)	24				OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)		AGTGGAAATTCCTGAACCCTG	0.453													54	107					1.38909e-20	1.815e-20	1	1	0	A	53050821	C	A	53050821	3	1	81	1	0	0	0	0	1	0	0	0	18221	854	30	5	126	5	ZNF808	19	53050821	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	42863	53050821	6078162	13894	17510											
ZNF808	388558	broad.mit.edu	37	19	53057913	53057913	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:53057913C>A	ENST00000359798.4	+	5	1924	c.1744C>A	c.(1744-1746)Ctt>Att	p.L582I		NM_001039886.3	NP_001034975.2	Q8N4W9	ZN808_HUMAN	zinc finger protein 808	582					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(8)|kidney(3)|lung(12)|urinary_tract(1)	24				OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)		ACAATCACATCTTTCACGTCA	0.383													35	71					1.45844e-13	1.84069e-13	1	1	0	A	53057913	C	A	53057913	3	1	81	1	0	0	0	0	1	0	0	0	18221	913	32	4	1754	4	ZNF808	19	53057913	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	7092	53057913	6071070	13895	17511											
ZNF701	55762	broad.mit.edu	37	19	53085781	53085781	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:53085781G>A	ENST00000540331.1	+	5	892	c.667G>A	c.(667-669)Gaa>Aaa	p.E223K	CTD-3099C6.7_ENST00000599222.1_RNA|ZNF701_ENST00000391785.3_Missense_Mutation_p.E157K|ZNF701_ENST00000301093.2_Missense_Mutation_p.E223K	NM_001172655.1	NP_001166126.1	Q9NV72	ZN701_HUMAN	zinc finger protein 701	157					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E157K(1)		endometrium(5)|kidney(1)|large_intestine(2)|lung(6)	14				OV - Ovarian serous cystadenocarcinoma(262;0.0105)|GBM - Glioblastoma multiforme(134;0.0402)		ATTTCACCCCGAAGGGAAAAT	0.413													46	57					0	0	1	0	0	A	53085781	G	A	53085781	3	1	81	1	0	0	0	0	1	0	0	0	18161	1059	37	1	681	1	ZNF701	19	53085781	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	27868	53085781	6043202	13896	17512											
ZNF83	55769	broad.mit.edu	37	19	53117236	53117236	+	Missense_Mutation	SNP	T	T	G	rs144975187		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:53117236T>G	ENST00000597597.1	-	2	2835	c.582A>C	c.(580-582)caA>caC	p.Q194H	ZNF83_ENST00000391789.4_Missense_Mutation_p.Q194H|ZNF83_ENST00000601257.1_Intron|ZNF83_ENST00000301096.3_Missense_Mutation_p.Q194H|ZNF83_ENST00000541777.2_Missense_Mutation_p.Q194H|ZNF83_ENST00000544146.1_Missense_Mutation_p.Q194H|ZNF83_ENST00000600714.1_Intron|ZNF83_ENST00000545872.1_Missense_Mutation_p.Q194H|ZNF83_ENST00000594682.2_3'UTR|ZNF83_ENST00000536937.1_Missense_Mutation_p.Q194H			P51522	ZNF83_HUMAN	zinc finger protein 83	194						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18				OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244)		TTCTTTGATGTTGTGCAAGGT	0.378													19	34					0	0	1	0	0	G	53117236	T	G	53117236	3	3	81	1	0	0	0	0	1	0	0	0	18230	1722	60	5	972	5	ZNF83	19	53117236	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	31455	53117236	6011747	13897	17513											
ZNF611	81856	broad.mit.edu	37	19	53208596	53208596	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:53208596C>T	ENST00000543227.1	-	6	1986	c.1712G>A	c.(1711-1713)tGc>tAc	p.C571Y	ZNF611_ENST00000595798.1_Missense_Mutation_p.C502Y|ZNF611_ENST00000540744.1_Missense_Mutation_p.C571Y|ZNF611_ENST00000453741.2_Missense_Mutation_p.C502Y|ZNF611_ENST00000602162.1_Missense_Mutation_p.C502Y|ZNF611_ENST00000319783.1_Missense_Mutation_p.C571Y	NM_001161499.1	NP_001154971.1	Q8N823	ZN611_HUMAN	zinc finger protein 611	571					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(262;0.0233)|GBM - Glioblastoma multiforme(134;0.04)		GGTCTTGCTGCACTCATTACA	0.408													79	136					0	0	1	0	0	T	53208596	C	T	53208596	3	4	81	1	0	0	0	0	1	0	0	0	18094	710	25	2	409	2	ZNF611	19	53208596	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	91360	53208596	5920387	13898	17514											
ZNF611	81856	broad.mit.edu	37	19	53209369	53209369	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:53209369T>C	ENST00000543227.1	-	6	1213	c.939A>G	c.(937-939)aaA>aaG	p.K313K	ZNF611_ENST00000595798.1_Silent_p.K244K|ZNF611_ENST00000540744.1_Silent_p.K313K|ZNF611_ENST00000453741.2_Silent_p.K244K|ZNF611_ENST00000602162.1_Silent_p.K244K|ZNF611_ENST00000319783.1_Silent_p.K313K	NM_001161499.1	NP_001154971.1	Q8N823	ZN611_HUMAN	zinc finger protein 611	313					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(262;0.0233)|GBM - Glioblastoma multiforme(134;0.04)		AATTGTAACGTTTTACTCCAG	0.403													7	115					0	0	1	0	0	C	53209369	T	C	53209369	2	2	81	1	0	0	0	0	0	0	0	1	18094	1722	60	3		3	ZNF611	19	53209369	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	773	53209369	5919614	13899	17515											
ZNF611	81856	broad.mit.edu	37	19	53219140	53219140	+	Translation_Start_Site	SNP	C	C	T	rs146379839	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:53219140C>T	ENST00000453741.2	-	0	272				ZNF611_ENST00000543227.1_Missense_Mutation_p.R3H|ZNF611_ENST00000595798.1_De_novo_Start_OutOfFrame|ZNF611_ENST00000596702.1_Missense_Mutation_p.R3H|ZNF611_ENST00000540744.1_Missense_Mutation_p.R3H|ZNF611_ENST00000602162.1_Intron|ZNF611_ENST00000600943.1_Missense_Mutation_p.R3H|ZNF611_ENST00000319783.1_Missense_Mutation_p.R3H	NM_001161501.1	NP_001154973.1	Q8N823	ZN611_HUMAN	zinc finger protein 611						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(262;0.0233)|GBM - Glioblastoma multiforme(134;0.04)		TGCTTCCTCACGTAACATGAG	0.428													10	200					0	0	1	0	0	T	53219140	C	T	53219140	1	4	81	1	0	0	0	0	0	0	0	0	18094	536	19	1		1	ZNF611	19	53219140	Translation_Start_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	9771	53219140	5909843	13900	17516											
ZNF600	162966	broad.mit.edu	37	19	53270475	53270475	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:53270475C>T	ENST00000338230.3	-	3	801	c.534G>A	c.(532-534)agG>agA	p.R178R		NM_198457.2	NP_940859	Q6ZNG1	ZN600_HUMAN	zinc finger protein 600	178					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(4)|large_intestine(9)|liver(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(262;0.0241)|GBM - Glioblastoma multiforme(134;0.0404)		TCTGGTGTTTCCTTAAGAGTG	0.368													62	102					0	0	1	0	0	T	53270475	C	T	53270475	2	4	81	1	0	0	0	0	0	0	0	1	18087	854	30	2		2	ZNF600	19	53270475	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	51335	53270475	5858508	13901	17517											
ZNF28	7576	broad.mit.edu	37	19	53304598	53304598	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:53304598G>T	ENST00000438150.2	-	2	1234	c.341C>A	c.(340-342)tCt>tAt	p.S114Y	ZNF28_ENST00000457749.2_Missense_Mutation_p.S167Y|ZNF28_ENST00000414252.2_Missense_Mutation_p.S114Y|ZNF28_ENST00000360272.4_Missense_Mutation_p.S114Y			P17035	ZNF28_HUMAN	zinc finger protein 28	167					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)		ATTGTTGATAGACTTCTCAAC	0.368													55	172					7.89702e-26	1.04624e-25	1	1	0	T	53304598	G	T	53304598	3	4	81	1	0	0	0	0	1	0	0	0	17871	942	33	4	1660	4	ZNF28	19	53304598	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	34123	53304598	5824385	13902	17518											
ZNF468	90333	broad.mit.edu	37	19	53345338	53345338	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:53345338T>C	ENST00000595646.1	-	4	329	c.209A>G	c.(208-210)cAc>cGc	p.H70R	ZNF468_ENST00000390651.4_Missense_Mutation_p.H17R|ZNF468_ENST00000396409.4_Missense_Mutation_p.H17R|ZNF28_ENST00000594602.1_Intron|ZNF468_ENST00000243639.4_Silent_p.P109P			Q5VIY5	ZN468_HUMAN	zinc finger protein 468	70	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(3)|urinary_tract(1)	23				GBM - Glioblastoma multiforme(134;0.0358)		TGTCCCTGTGTGGATCACTTC	0.388													10	138					0	0	1	0	0	C	53345338	T	C	53345338	3	2	81	1	0	0	0	0	1	0	0	0	17985	1696	59	3	1363	3	ZNF468	19	53345338	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	40740	53345338	5783645	13903	17519											
ZNF160	90338	broad.mit.edu	37	19	53571786	53571786	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:53571786A>G	ENST00000601421.1	-	3	2769	c.1893T>C	c.(1891-1893)caT>caC	p.H631H	ZNF160_ENST00000429604.1_Silent_p.H667H|ZNF160_ENST00000599056.1_Silent_p.H667H|ZNF160_ENST00000418871.1_Silent_p.H667H			Q9HCG1	ZN160_HUMAN	zinc finger protein 160	667					hemopoiesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	35				GBM - Glioblastoma multiforme(134;0.02)		GGATGACCTTATGGGTAGTTA	0.428													13	121					0	0	1	0	0	G	53571786	A	G	53571786	2	3	81	1	0	0	0	0	0	0	0	1	17797	446	16	3		3	ZNF160	19	53571786	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	226448	53571786	5557197	13904	17520											
ZNF160	90338	broad.mit.edu	37	19	53572973	53572973	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:53572973G>T	ENST00000601421.1	-	3	1582	c.706C>A	c.(706-708)Ctt>Att	p.L236I	ZNF160_ENST00000429604.1_Missense_Mutation_p.L272I|ZNF160_ENST00000599056.1_Missense_Mutation_p.L272I|ZNF160_ENST00000418871.1_Missense_Mutation_p.L272I			Q9HCG1	ZN160_HUMAN	zinc finger protein 160	272					hemopoiesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	35				GBM - Glioblastoma multiforme(134;0.02)		TGACTTGTAAGGTTCGAATTC	0.378													8	130					9.70103e-10	1.17698e-09	1	1	0	T	53572973	G	T	53572973	3	4	81	1	0	0	0	0	1	0	0	0	17797	1000	35	4	1646	4	ZNF160	19	53572973	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1187	53572973	5556010	13905	17521											
ZNF160	90338	broad.mit.edu	37	19	53573045	53573045	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:53573045G>A	ENST00000601421.1	-	3	1510	c.634C>T	c.(634-636)Cga>Tga	p.R212*	ZNF160_ENST00000429604.1_Nonsense_Mutation_p.R248*|ZNF160_ENST00000599056.1_Nonsense_Mutation_p.R248*|ZNF160_ENST00000418871.1_Nonsense_Mutation_p.R248*			Q9HCG1	ZN160_HUMAN	zinc finger protein 160	248					hemopoiesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	35				GBM - Glioblastoma multiforme(134;0.02)		TTTGCTTTTCGTCTTTGTGTG	0.373													48	91					0	0	1	0	0	A	53573045	G	A	53573045	4	1	81	1	0	0	0	0	0	1	0	0	17797	1153	40	1	1718	1	ZNF160	19	53573045	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	72	53573045	5555938	13906	17522											
ZNF347	84671	broad.mit.edu	37	19	53643864	53643864	+	Silent	SNP	G	G	A	rs151303414		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:53643864G>A	ENST00000452676.2	-	5	2646	c.2220C>T	c.(2218-2220)tgC>tgT	p.C740C	ZNF347_ENST00000601469.2_Silent_p.C740C|ZNF347_ENST00000334197.7_Silent_p.C739C|ZNF347_ENST00000601804.1_Intron	NM_001172674.1	NP_001166145.1	Q96SE7	ZN347_HUMAN	zinc finger protein 347	739					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		CACACTCATTGCATTTGTAAG	0.428													71	110					0	0	1	0	0	A	53643864	G	A	53643864	2	1	81	1	0	0	0	0	0	0	0	1	17918	1311	46	2		2	ZNF347	19	53643864	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	70819	53643864	5485119	13907	17523											
ZNF347	84671	broad.mit.edu	37	19	53644945	53644945	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:53644945C>A	ENST00000452676.2	-	5	1565	c.1139G>T	c.(1138-1140)gGg>gTg	p.G380V	ZNF347_ENST00000601469.2_Missense_Mutation_p.G380V|ZNF347_ENST00000334197.7_Missense_Mutation_p.G379V|ZNF347_ENST00000601804.1_Intron	NM_001172674.1	NP_001166145.1	Q96SE7	ZN347_HUMAN	zinc finger protein 347	379					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		AAAGGCTTTCCCACACTCATT	0.418													9	89					2.17888e-05	2.43576e-05	1	1	0	A	53644945	C	A	53644945	3	1	81	1	0	0	0	0	1	0	0	0	17918	623	22	5	1387	5	ZNF347	19	53644945	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1081	53644945	5484038	13908	17524											
ZNF347	84671	broad.mit.edu	37	19	53645134	53645134	+	Missense_Mutation	SNP	C	C	T	rs142905085		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:53645134C>T	ENST00000452676.2	-	5	1376	c.950G>A	c.(949-951)cGt>cAt	p.R317H	ZNF347_ENST00000601469.2_Missense_Mutation_p.R317H|ZNF347_ENST00000334197.7_Missense_Mutation_p.R316H|ZNF347_ENST00000601804.1_Intron	NM_001172674.1	NP_001166145.1	Q96SE7	ZN347_HUMAN	zinc finger protein 347	316					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		ACATTTGTAACGTTTTTCGCC	0.373													53	64					0	0	1	0	0	T	53645134	C	T	53645134	3	4	81	1	0	0	0	0	1	0	0	0	17918	536	19	1	1576	1	ZNF347	19	53645134	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	189	53645134	5483849	13909	17525											
ZNF665	79788	broad.mit.edu	37	19	53668594	53668594	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:53668594G>A	ENST00000600412.1	-	2	1069	c.954C>T	c.(952-954)ttC>ttT	p.F318F	ZNF665_ENST00000396424.3_Silent_p.F383F			Q9H7R5	ZN665_HUMAN	zinc finger protein 665	318					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	35				GBM - Glioblastoma multiforme(134;0.0196)		AATGCATACTGAAGGCTTTCC	0.408													23	38					0	0	1	0	0	A	53668594	G	A	53668594	2	1	81	1	0	0	0	0	0	0	0	1	18130	1281	45	2		2	ZNF665	19	53668594	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	23460	53668594	5460389	13910	17526											
ZNF665	79788	broad.mit.edu	37	19	53668654	53668654	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:53668654C>A	ENST00000600412.1	-	2	1009	c.894G>T	c.(892-894)aaG>aaT	p.K298N	ZNF665_ENST00000396424.3_Missense_Mutation_p.K363N			Q9H7R5	ZN665_HUMAN	zinc finger protein 665	298					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	35				GBM - Glioblastoma multiforme(134;0.0196)		TTCGCCGATGCTTTGCAAGGT	0.418													9	56					3.07112e-06	3.5041e-06	1	1	0	A	53668654	C	A	53668654	3	1	81	1	0	0	0	0	1	0	0	0	18130	796	28	4	951	4	ZNF665	19	53668654	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	60	53668654	5460329	13911	17527											
ZNF665	79788	broad.mit.edu	37	19	53668765	53668765	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:53668765G>T	ENST00000600412.1	-	2	898	c.783C>A	c.(781-783)gcC>gcA	p.A261A	ZNF665_ENST00000396424.3_Silent_p.A326A			Q9H7R5	ZN665_HUMAN	zinc finger protein 665	261					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	35				GBM - Glioblastoma multiforme(134;0.0196)		GAACACTAAAGGCTTTGCCAC	0.433													8	99					0.000157383	0.000171784	1	1	0	T	53668765	G	T	53668765	2	4	81	1	0	0	0	0	0	0	0	1	18130	987	35	4		4	ZNF665	19	53668765	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	111	53668765	5460218	13912	17528											
ZNF677	342926	broad.mit.edu	37	19	53740687	53740687	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:53740687G>A	ENST00000333952.4	-	5	1458	c.1293C>T	c.(1291-1293)caC>caT	p.H431H	ZNF677_ENST00000598513.1_Silent_p.H431H			Q86XU0	ZN677_HUMAN	zinc finger protein 677	431					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(13)|lung(6)|ovary(1)|pancreas(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				GBM - Glioblastoma multiforme(134;0.00352)		CATTACATTTGTGTGGTTTCT	0.398													17	35					0	0	1	0	0	A	53740687	G	A	53740687	2	1	81	1	0	0	0	0	0	0	0	1	18141	1368	48	2		2	ZNF677	19	53740687	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	71922	53740687	5388296	13913	17529											
VN1R2	317701	broad.mit.edu	37	19	53761868	53761868	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:53761868C>T	ENST00000341702.3	+	1	324	c.240C>T	c.(238-240)caC>caT	p.H80H		NM_173856.2	NP_776255.2	Q8NFZ6	VN1R2_HUMAN	vomeronasal 1 receptor 2	80					response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(134;0.00301)		tctctgcacacggagagaaac	0.458													3	6					0	0	1	0	0	T	53761868	C	T	53761868	2	4	81	1	0	0	0	0	0	0	0	1	17239	535	19	1		1	VN1R2	19	53761868	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	21181	53761868	5367115	13914	17530											
ZNF765	91661	broad.mit.edu	37	19	53911139	53911139	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:53911139G>A	ENST00000396408.3	+	4	448	c.331G>A	c.(331-333)Gca>Aca	p.A111T	ZNF765_ENST00000594030.1_Intron	NM_001040185.1	NP_001035275.1	Q7L2R6	ZN765_HUMAN	zinc finger protein 765	111					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|lung(3)	4				GBM - Glioblastoma multiforme(134;0.00379)		TGGCCATGAAGCACTCATGAC	0.353													25	44					0	0	1	0	0	A	53911139	G	A	53911139	3	1	81	1	0	0	0	0	1	0	0	0	18189	971	34	2	341	2	ZNF765	19	53911139	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	149271	53911139	5217844	13915	17531											
ZNF765	91661	broad.mit.edu	37	19	53912162	53912162	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:53912162A>C	ENST00000396408.3	+	4	1471	c.1354A>C	c.(1354-1356)Aac>Cac	p.N452H	ZNF765_ENST00000594030.1_Intron	NM_001040185.1	NP_001035275.1	Q7L2R6	ZN765_HUMAN	zinc finger protein 765	452					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|lung(3)	4				GBM - Glioblastoma multiforme(134;0.00379)		TTTCAAATCAAACCTTGAAAT	0.388													25	39					0	0	1	0	0	C	53912162	A	C	53912162	3	2	81	1	0	0	0	0	1	0	0	0	18189	14	1	5	1364	5	ZNF765	19	53912162	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	1023	53912162	5216821	13916	17532											
ZNF765	91661	broad.mit.edu	37	19	53912265	53912265	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:53912265G>T	ENST00000396408.3	+	4	1574	c.1457G>T	c.(1456-1458)aGa>aTa	p.R486I	ZNF765_ENST00000594030.1_Intron	NM_001040185.1	NP_001035275.1	Q7L2R6	ZN765_HUMAN	zinc finger protein 765	486					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|lung(3)	4				GBM - Glioblastoma multiforme(134;0.00379)		TACCATCATAGACTTCATACT	0.378													8	73					5.18039e-06	5.88187e-06	1	1	0	T	53912265	G	T	53912265	3	4	81	1	0	0	0	0	1	0	0	0	18189	942	33	4	1467	4	ZNF765	19	53912265	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	103	53912265	5216718	13917	17533											
ZNF761	388561	broad.mit.edu	37	19	53959491	53959491	+	RNA	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:53959491C>A	ENST00000454407.1	+	0	2183							Q86XN6	ZN761_HUMAN	zinc finger protein 761						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		GGAGAGAACCCTTACAAATGT	0.383													38	50					6.05902e-23	7.96962e-23	1	1	0	A	53959491	C	A	53959491	1	1	81	0	1	0	0	0	0	0	0	0	18186	681	24	4		4	ZNF761	19	53959491	RNA	SNP	C	TCGA-DU-6392-01A-11D-1705-08	47226	53959491	5169492	13918	17534											
ZNF761	388561	broad.mit.edu	37	19	53959722	53959722	+	RNA	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:53959722G>T	ENST00000454407.1	+	0	2414							Q86XN6	ZN761_HUMAN	zinc finger protein 761						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		GGACATAGGAGAATTCATACT	0.398													6	74					1.12685e-05	1.27052e-05	1	1	0	T	53959722	G	T	53959722	1	4	81	0	1	0	0	0	0	0	0	0	18186	942	33	4		4	ZNF761	19	53959722	RNA	SNP	G	TCGA-DU-6392-01A-11D-1705-08	231	53959722	5169261	13919	17535											
ZNF331	55422	broad.mit.edu	37	19	54080795	54080795	+	Silent	SNP	C	C	T	rs149071213	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:54080795C>T	ENST00000253144.9	+	7	2314	c.981C>T	c.(979-981)caC>caT	p.H327H	ZNF331_ENST00000449416.1_Silent_p.H327H|ZNF331_ENST00000511154.1_Silent_p.H327H|ZNF331_ENST00000511593.2_Silent_p.H327H|ZNF331_ENST00000513999.1_Silent_p.H327H|ZNF331_ENST00000513265.1_3'UTR|ZNF331_ENST00000512387.1_Silent_p.H327H|ZNF331_ENST00000411977.2_Silent_p.H327H	NM_001253801.1|NM_018555.5	NP_001240730.1|NP_061025.5	Q9NQX6	ZN331_HUMAN	zinc finger protein 331	327					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.H327H(1)		NS(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	10				GBM - Glioblastoma multiforme(134;0.00555)		AGAAGCCTCACGAATGTAAGG	0.507			T	?	follicular thyroid adenoma								5	56					0	0	1	0	0	T	54080795	C	T	54080795	2	4	81	1	0	0	0	0	0	0	0	1	17906	535	19	1		1	ZNF331	19	54080795	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	121073	54080795	5048188	13920	17536											
ZNF331	55422	broad.mit.edu	37	19	54081145	54081145	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:54081145G>A	ENST00000253144.9	+	7	2664	c.1331G>A	c.(1330-1332)tGc>tAc	p.C444Y	ZNF331_ENST00000449416.1_Missense_Mutation_p.C444Y|ZNF331_ENST00000511154.1_Missense_Mutation_p.C444Y|ZNF331_ENST00000511593.2_Missense_Mutation_p.C444Y|ZNF331_ENST00000513999.1_Missense_Mutation_p.C444Y|ZNF331_ENST00000512387.1_Missense_Mutation_p.C444Y|ZNF331_ENST00000411977.2_Missense_Mutation_p.C444Y	NM_001253801.1|NM_018555.5	NP_001240730.1|NP_061025.5	Q9NQX6	ZN331_HUMAN	zinc finger protein 331	444					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	10				GBM - Glioblastoma multiforme(134;0.00555)		TGTAAGGAGTGCGGGAAGGCA	0.488			T	?	follicular thyroid adenoma								13	15					0	0	1	0	0	A	54081145	G	A	54081145	3	1	81	1	0	0	0	0	1	0	0	0	17906	1319	46	2	1341	2	ZNF331	19	54081145	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	350	54081145	5047838	13921	17537											
NLRP12	91662	broad.mit.edu	37	19	54314193	54314193	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:54314193G>C	ENST00000324134.6	-	3	888	c.720C>G	c.(718-720)ttC>ttG	p.F240L	NLRP12_ENST00000354278.3_Missense_Mutation_p.F240L|NLRP12_ENST00000351894.4_Missense_Mutation_p.F240L|NLRP12_ENST00000391773.1_Missense_Mutation_p.F240L|NLRP12_ENST00000391775.3_Missense_Mutation_p.F240L|NLRP12_ENST00000535162.1_Missense_Mutation_p.F240L|NLRP12_ENST00000345770.5_Missense_Mutation_p.F240L|NLRP12_ENST00000391772.1_Missense_Mutation_p.F240L	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	240	NACHT.				negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		ATCTGCCTTGGAAGAGCTTCC	0.577													10	27					0	0	1	0	0	C	54314193	G	C	54314193	3	2	81	1	0	0	0	0	1	0	0	0	10521	1165	41	5	2593	5	NLRP12	19	54314193	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	233048	54314193	4814790	13922	17538											
CACNG7	59284	broad.mit.edu	37	19	54418628	54418628	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:54418628G>A	ENST00000391767.1	+	4	505	c.293G>A	c.(292-294)cGc>cAc	p.R98H	CACNG7_ENST00000391766.1_Missense_Mutation_p.R98H|CACNG7_ENST00000468076.1_3'UTR|CACNG7_ENST00000222212.2_Missense_Mutation_p.R98H			P62955	CCG7_HUMAN	calcium channel, voltage-dependent, gamma subunit 7	98					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.R98H(1)		NS(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0711)		GAGACAGTGCGCACGGCCACC	0.627													9	25					0	0	1	0	0	A	54418628	G	A	54418628	3	1	81	1	0	0	0	0	1	0	0	0	2580	1087	38	1	303	1	CACNG7	19	54418628	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	104435	54418628	4710355	13923	17539											
CACNG7	59284	broad.mit.edu	37	19	54445390	54445390	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:54445390G>A	ENST00000391767.1	+	6	883	c.671G>A	c.(670-672)tGc>tAc	p.C224Y	CACNG7_ENST00000222212.2_Missense_Mutation_p.C224Y			P62955	CCG7_HUMAN	calcium channel, voltage-dependent, gamma subunit 7	224				GAGVMSVYLFTKRYAEEEMYRPHPAFYRPRLSDCSDYSGQF LQPEAWRRGRSPSDISSDVSIQMTQNYPPAIKYPDHLHIST SPC -> VTSVGPRL (in Ref. 1; AAK20030).	regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0711)		CTCAGCGACTGCTCCGACTAC	0.672													6	35					0	0	1	0	0	A	54445390	G	A	54445390	3	1	81	1	0	0	0	0	1	0	0	0	2580	1319	46	2	689	2	CACNG7	19	54445390	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	26762	54445390	4683593	13924	17540											
PRPF31	26121	broad.mit.edu	37	19	54625310	54625310	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:54625310G>A	ENST00000321030.4	+	4	659	c.310G>A	c.(310-312)Gaa>Aaa	p.E104K	PRPF31_ENST00000419967.1_Missense_Mutation_p.E104K|PRPF31_ENST00000498612.1_3'UTR|PRPF31_ENST00000391755.1_Missense_Mutation_p.E104K|AC012314.8_ENST00000452097.1_RNA	NM_015629.3	NP_056444.3	Q8WWY3	PRP31_HUMAN	pre-mRNA processing factor 31	104					assembly of spliceosomal tri-snRNP	Cajal body|MLL1 complex|nuclear speck|U4 snRNP|U4/U6 x U5 tri-snRNP complex|U4atac snRNP	RNA binding|snRNP binding			breast(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(2)|urinary_tract(3)	12	all_cancers(19;0.00681)|all_epithelial(19;0.00362)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					CGTGGAGATCGAAAACGAGCT	0.642													6	13					0	0	1	0	0	A	54625310	G	A	54625310	3	1	81	1	0	0	0	0	1	0	0	0	12618	1059	37	1	320	1	PRPF31	19	54625310	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	179920	54625310	4503673	13925	17541											
TSEN34	79042	broad.mit.edu	37	19	54695428	54695428	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:54695428C>A	ENST00000396383.1	+	2	524	c.213C>A	c.(211-213)gcC>gcA	p.A71A	TSEN34_ENST00000302937.4_Silent_p.A71A|TSEN34_ENST00000396388.2_Silent_p.A71A|TSEN34_ENST00000429671.2_Silent_p.A71A			Q9BSV6	SEN34_HUMAN	TSEN34 tRNA splicing endonuclease subunit	71					mRNA processing|tRNA-type intron splice site recognition and cleavage	nucleolus|tRNA-intron endonuclease complex	nucleic acid binding|tRNA-intron endonuclease activity			endometrium(1)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	10	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					TGGTCAGCGCCCCGCGTCCAG	0.701													14	23					3.27435e-08	3.88014e-08	1	1	0	A	54695428	C	A	54695428	2	1	81	1	0	0	0	0	0	0	0	1	16674	610	22	5		5	TSEN34	19	54695428	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	70118	54695428	4433555	13926	17542											
LILRB3	11025	broad.mit.edu	37	19	54723078	54723078	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:54723078G>A	ENST00000391750.1	-	9	1482	c.1346C>T	c.(1345-1347)tCg>tTg	p.S449L	LILRA6_ENST00000391735.3_3'UTR|LILRA6_ENST00000440558.2_Missense_Mutation_p.S449L|LILRB3_ENST00000407860.2_Missense_Mutation_p.S466L|LILRA6_ENST00000270464.5_Missense_Mutation_p.S449L|LILRB3_ENST00000346401.6_Missense_Mutation_p.S461L|LILRB3_ENST00000245620.9_Missense_Mutation_p.S449L|LILRB3_ENST00000424807.1_Missense_Mutation_p.S449L|LILRB3_ENST00000469273.1_5'UTR|LILRA6_ENST00000419410.2_Missense_Mutation_p.S449L			O75022	LIRB3_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 3	449					cell surface receptor linked signaling pathway|defense response	integral to plasma membrane	transmembrane receptor activity			endometrium(3)|kidney(13)|large_intestine(1)|lung(6)|ovary(2)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	34	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GAAGGCCACCGAGACCCCAAT	0.562													5	9					0	0	1	0	0	A	54723078	G	A	54723078	3	1	81	1	0	0	0	0	1	0	0	0	8832	1059	37	1	576	1	LILRB3	19	54723078	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	27650	54723078	4405905	13927	17543											
LILRA6	79168	broad.mit.edu	37	19	54742904	54742904	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:54742904G>T	ENST00000396365.2	-	8	1410	c.1371C>A	c.(1369-1371)gtC>gtA	p.V457V	LILRA6_ENST00000391735.3_Intron|LILRA6_ENST00000245621.5_Silent_p.V440V|LILRA6_ENST00000440558.2_Intron|LILRB3_ENST00000407860.2_Intron|LILRA6_ENST00000270464.5_Intron|LILRA6_ENST00000419410.2_Intron	NM_024318.2	NP_077294			leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6											central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(20)|ovary(3)|skin(2)|urinary_tract(2)	38	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GGAACACCAGGACCAAGCCTG	0.577													10	19					3.07112e-06	3.5041e-06	1	1	0	T	54742904	G	T	54742904	2	4	81	1	0	0	0	0	0	0	0	1	8829	1161	41	5		5	LILRA6	19	54742904	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	19826	54742904	4386079	13928	17544											
LILRA6	79168	broad.mit.edu	37	19	54745686	54745686	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:54745686G>T	ENST00000440558.2	-	4	472	c.424C>A	c.(424-426)Ctc>Atc	p.L142I	LILRA6_ENST00000391735.3_Missense_Mutation_p.L142I|LILRA6_ENST00000396365.2_Missense_Mutation_p.L142I|LILRA6_ENST00000245621.5_Missense_Mutation_p.L142I|LILRB3_ENST00000407860.2_Intron|LILRA6_ENST00000270464.5_Missense_Mutation_p.L142I|LILRA6_ENST00000419410.2_Missense_Mutation_p.L142I					leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6											central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(20)|ovary(3)|skin(2)|urinary_tract(2)	38	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CCACATCGGAGGGTCATATTC	0.562													18	37					9.16793e-09	1.09544e-08	1	1	0	T	54745686	G	T	54745686	3	4	81	1	0	0	0	0	1	0	0	0	8829	1000	35	4	1041	4	LILRA6	19	54745686	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2782	54745686	4383297	13929	17545											
LILRA3	11026	broad.mit.edu	37	19	54800090	54800090	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:54800090G>T	ENST00000391745.1	-	11	1643	c.1327C>A	c.(1327-1329)Ctc>Atc	p.L443I	LILRA3_ENST00000251390.3_Missense_Mutation_p.L426I|LILRA3_ENST00000391744.3_Missense_Mutation_p.L362I					leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3											NS(3)|breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GGTGGGCTGAGGGTCTCAGCT	0.483													4	31					0.184627	0.18622	1	1	0	T	54800090	G	T	54800090	3	4	81	1	0	0	0	0	1	0	0	0	8826	1000	35	4	47	4	LILRA3	19	54800090	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	54404	54800090	4328893	13930	17546											
LENG8	114823	broad.mit.edu	37	19	54963829	54963829	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:54963829G>A	ENST00000326764.5	+	4	692		c.e4-1		LENG8_ENST00000376514.2_Intron	NM_052925.2	NP_443157.1	Q96PV6	LENG8_HUMAN	leukocyte receptor cluster (LRC) member 8								protein binding			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.139)		TGCTTCCACAGTACGTGTCCC	0.562													15	35					0	0	1	0	0	A	54963829	G	A	54963829	5	1	81	1	0	0	0	0	0	0	1	0	8763	1043	36	2	223	2	LENG8	19	54963829	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	163739	54963829	4165154	13931	17547											
LENG8	114823	broad.mit.edu	37	19	54969112	54969112	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:54969112G>T	ENST00000326764.5	+	13	2312		c.e13-1		LENG8_ENST00000376514.2_Intron	NM_052925.2	NP_443157.1	Q96PV6	LENG8_HUMAN	leukocyte receptor cluster (LRC) member 8								protein binding			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.139)		CGCTGCCCCAGGTGCAGGGCA	0.687													6	49					0.00198382	0.00209725	1	1	0	T	54969112	G	T	54969112	5	4	81	1	0	0	0	0	0	0	1	0	8763	1014	35	4	1879	4	LENG8	19	54969112	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	5283	54969112	4159871	13932	17548											
LENG9	94059	broad.mit.edu	37	19	54973788	54973788	+	Missense_Mutation	SNP	C	C	T	rs142325287		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:54973788C>T	ENST00000333834.4	-	1	1106	c.988G>A	c.(988-990)Gag>Aag	p.E330K		NM_198988.1	NP_945339.2	Q96B70	LENG9_HUMAN	leukocyte receptor cluster (LRC) member 9	330					RNA metabolic process	intracellular	catalytic activity|nucleic acid binding|zinc ion binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)	11	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.134)		AGCCCAGGCTCGGTCACCATG	0.627													25	28					0	0	1	0	0	T	54973788	C	T	54973788	3	4	81	1	0	0	0	0	1	0	0	0	8764	893	31	1	521	1	LENG9	19	54973788	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	4676	54973788	4155195	13933	17549											
LILRB1	10859	broad.mit.edu	37	19	55146618	55146618	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:55146618G>A	ENST00000396331.1	+	12	1904	c.1547G>A	c.(1546-1548)gGc>gAc	p.G516D	LILRB1_ENST00000462628.1_3'UTR|LILRB1_ENST00000396315.1_Missense_Mutation_p.G517D|LILRB1_ENST00000434867.2_Missense_Mutation_p.G516D|LILRB1_ENST00000448689.1_Intron|LILRB1_ENST00000396327.3_Missense_Mutation_p.G517D|LILRB1_ENST00000324602.7_Missense_Mutation_p.G517D|LILRB1_ENST00000396321.2_Missense_Mutation_p.G516D|LILRB1_ENST00000396332.4_Missense_Mutation_p.G516D|LILRB1_ENST00000396317.1_Missense_Mutation_p.G500D|LILRB1_ENST00000418536.2_Missense_Mutation_p.G500D|LILRB1_ENST00000427581.2_Missense_Mutation_p.G566D	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	516					regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		ACAGACAGAGGCCTGCAGTGG	0.617										HNSCC(37;0.09)			12	27					0	0	1	0	0	A	55146618	G	A	55146618	3	1	81	1	0	0	0	0	1	0	0	0	8830	1203	42	2	1588	2	LILRB1	19	55146618	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	172830	55146618	3982365	13934	17550											
LILRB1	10859	broad.mit.edu	37	19	55148190	55148190	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:55148190C>T	ENST00000396331.1	+	16	2171	c.1814C>T	c.(1813-1815)gCa>gTa	p.A605V	LILRB1_ENST00000462628.1_3'UTR|LILRB1_ENST00000396315.1_Missense_Mutation_p.A607V|LILRB1_ENST00000434867.2_Missense_Mutation_p.A605V|LILRB1_ENST00000448689.1_3'UTR|LILRB1_ENST00000396327.3_Missense_Mutation_p.A606V|AC009892.10_ENST00000456337.1_Intron|LILRB1_ENST00000324602.7_Missense_Mutation_p.A607V|LILRB1_ENST00000396321.2_Missense_Mutation_p.A605V|LILRB1_ENST00000396332.4_Missense_Mutation_p.A606V|LILRB1_ENST00000396317.1_Missense_Mutation_p.A589V|LILRB1_ENST00000418536.2_Missense_Mutation_p.A589V|LILRB1_ENST00000427581.2_Missense_Mutation_p.A656V	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	605					regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		CAGGCTGCTGCATCTGAAGCC	0.647										HNSCC(37;0.09)			7	24					0	0	1	0	0	T	55148190	C	T	55148190	3	4	81	1	0	0	0	0	1	0	0	0	8830	710	25	2	1874	2	LILRB1	19	55148190	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1572	55148190	3980793	13935	17551											
LILRB4	11006	broad.mit.edu	37	19	55175251	55175251	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:55175251C>A	ENST00000391736.1	+	5	425	c.110C>A	c.(109-111)tCt>tAt	p.S37Y	LILRB4_ENST00000430952.2_Missense_Mutation_p.S37Y|LILRB4_ENST00000270452.2_Missense_Mutation_p.S37Y|LILRB4_ENST00000391733.3_Missense_Mutation_p.S37Y|LILRB4_ENST00000391734.3_Missense_Mutation_p.S37Y	NM_001278426.2|NM_001278428.2|NM_001278429.2|NM_001278430.2	NP_001265355.1|NP_001265357.1|NP_001265358.1|NP_001265359.1	Q8NHJ6	LIRB4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4	37	Ig-like C2-type 1.					integral to membrane|plasma membrane	antigen binding|receptor activity			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	39				GBM - Glioblastoma multiforme(193;0.035)		GAGCCAGGCTCTGTGATCAGC	0.607													25	44					4.26978e-12	5.32034e-12	1	1	0	A	55175251	C	A	55175251	3	1	81	1	0	0	0	0	1	0	0	0	8833	913	32	4	120	4	LILRB4	19	55175251	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	27061	55175251	3953732	13936	17552											
KIR2DL3	3804	broad.mit.edu	37	19	55250031	55250031	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:55250031C>A	ENST00000342376.3	+	1	52	c.21C>A	c.(19-21)agC>agA	p.S7R	KIR3DL1_ENST00000538269.1_Intron|KIR2DL4_ENST00000396284.2_Intron|KIR3DL1_ENST00000402254.2_Intron|CTB-61M7.1_ENST00000400864.3_RNA|KIR2DL3_ENST00000434419.2_Missense_Mutation_p.S7R|KIR3DL1_ENST00000541392.1_Intron	NM_015868.2	NP_056952.2			killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 3											breast(1)|cervix(1)|large_intestine(1)|lung(11)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1)	21				GBM - Glioblastoma multiforme(193;0.0192)		TGGTCGTCAGCATGGTGTGTG	0.612											OREG0003673	type=REGULATORY REGION|Gene=KIR2DL3|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	21	8					4.7796e-09	5.73439e-09	1	1	0	A	55250031	C	A	55250031	3	1	81	1	0	0	0	0	1	0	0	0	8360	709	25	5	23	5	KIR2DL3	19	55250031	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	74780	55250031	3878952	13937	17553											
KIR3DL1	3811	broad.mit.edu	37	19	55331358	55331358	+	Silent	SNP	C	C	T	rs116306767	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:55331358C>T	ENST00000391728.4	+	4	579	c.546C>T	c.(544-546)atC>atT	p.I182I	KIR3DL1_ENST00000538269.1_Silent_p.I182I|KIR3DL1_ENST00000402254.2_Silent_p.I182I|KIR3DL1_ENST00000358178.4_Silent_p.I87I|KIR3DL1_ENST00000326542.7_Silent_p.I182I|KIR3DL1_ENST00000541392.1_Silent_p.I182I	NM_013289.2	NP_037421.2			killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1											breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(193;0.0192)		ATTTCTCCATCGGTCCCATGA	0.537													72	191					0	0	1	0	0	T	55331358	C	T	55331358	2	4	81	1	0	0	0	0	0	0	0	1	8363	874	31	1		1	KIR3DL1	19	55331358	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	81327	55331358	3797625	13938	17554											
NLRP7	199713	broad.mit.edu	37	19	55445085	55445085	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:55445085C>T	ENST00000588756.1	-	10	2980	c.2494G>A	c.(2494-2496)Gaa>Aaa	p.E832K	NLRP7_ENST00000340844.2_Missense_Mutation_p.E832K|NLRP7_ENST00000592784.1_Missense_Mutation_p.E832K|NLRP7_ENST00000446217.1_Missense_Mutation_p.E860K|NLRP7_ENST00000448121.2_Missense_Mutation_p.E804K|NLRP7_ENST00000328092.5_Missense_Mutation_p.E804K|NLRP7_ENST00000590030.1_Missense_Mutation_p.E832K			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	832							ATP binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		CAACTGGCTTCTGTAAGACGA	0.473													22	43					0	0	1	0	0	T	55445085	C	T	55445085	3	4	81	1	0	0	0	0	1	0	0	0	10529	922	32	2	635	2	NLRP7	19	55445085	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	113727	55445085	3683898	13939	17555											
NLRP7	199713	broad.mit.edu	37	19	55451754	55451754	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:55451754T>C	ENST00000588756.1	-	6	919	c.433A>G	c.(433-435)Aat>Gat	p.N145D	NLRP7_ENST00000340844.2_Missense_Mutation_p.N145D|NLRP7_ENST00000592784.1_Missense_Mutation_p.N145D|NLRP7_ENST00000446217.1_Missense_Mutation_p.N173D|NLRP7_ENST00000448121.2_Missense_Mutation_p.N145D|NLRP7_ENST00000328092.5_Missense_Mutation_p.N145D|NLRP7_ENST00000590030.1_Missense_Mutation_p.N145D			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	145							ATP binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		TCATGGAAATTGTCAATGTCT	0.478													12	447					0	0	1	0	0	C	55451754	T	C	55451754	3	2	81	1	0	0	0	0	1	0	0	0	10529	1812	63	3	2712	3	NLRP7	19	55451754	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	6669	55451754	3677229	13940	17556											
NLRP2	55655	broad.mit.edu	37	19	55508792	55508792	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:55508792C>A	ENST00000543010.1	+	12	3130	c.2987C>A	c.(2986-2988)tCt>tAt	p.S996Y	NLRP2_ENST00000263437.6_Missense_Mutation_p.S993Y|NLRP2_ENST00000537859.1_Missense_Mutation_p.S974Y|NLRP2_ENST00000339757.7_Missense_Mutation_p.S974Y|NLRP2_ENST00000427260.2_Missense_Mutation_p.S973Y|NLRP2_ENST00000538819.1_Missense_Mutation_p.S972Y|NLRP2_ENST00000448584.2_Missense_Mutation_p.S996Y|NLRP2_ENST00000391721.4_Missense_Mutation_p.S972Y	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	996					apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		CCCTTGGGGTCTAGTGGAGTG	0.537													51	68					3.50607e-19	4.56197e-19	1	1	0	A	55508792	C	A	55508792	3	1	81	1	0	0	0	0	1	0	0	0	10524	913	32	4	3029	4	NLRP2	19	55508792	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	57038	55508792	3620191	13941	17557											
GP6	51206	broad.mit.edu	37	19	55526304	55526304	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:55526304G>A	ENST00000310373.3	-	8	1036	c.1009C>T	c.(1009-1011)Cgg>Tgg	p.R337W	CTC-550B14.7_ENST00000586845.1_RNA|CTC-550B14.7_ENST00000593060.1_RNA|GP6_ENST00000333884.2_Silent_p.R317R|GP6_ENST00000417454.1_Silent_p.R335R	NM_001083899.1	NP_001077368	Q9HCN6	GPVI_HUMAN	glycoprotein VI (platelet)	0					enzyme linked receptor protein signaling pathway|leukocyte migration|platelet activation	integral to plasma membrane	collagen binding|transmembrane receptor activity			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19			BRCA - Breast invasive adenocarcinoma(297;0.156)	GBM - Glioblastoma multiforme(193;0.0515)		AACATAACCCGCGGCTGTGAA	0.642													10	17					0	0	1	0	0	A	55526304	G	A	55526304	3	1	81	1	0	0	0	0	1	0	0	0	6624	1086	38	1	857	1	GP6	19	55526304	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	17512	55526304	3602679	13942	17558											
RDH13	112724	broad.mit.edu	37	19	55556517	55556517	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:55556517C>A	ENST00000396247.3	-	8	1180	c.708G>T	c.(706-708)cgG>cgT	p.R236R	CTC-550B14.6_ENST00000585492.1_RNA|RDH13_ENST00000415061.3_Silent_p.R307R|CTC-550B14.7_ENST00000593060.1_RNA	NM_138412.3	NP_612421.1	Q8NBN7	RDH13_HUMAN	retinol dehydrogenase 13 (all-trans/9-cis)	307							binding|oxidoreductase activity			endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	12			BRCA - Breast invasive adenocarcinoma(297;0.199)	GBM - Glioblastoma multiforme(193;0.0504)	Vitamin A(DB00162)	CCCAAAGCCTCCGGGCCACCT	0.622													5	43					0.014758	0.0152304	1	1	0	A	55556517	C	A	55556517	2	1	81	1	0	0	0	0	0	0	0	1	13244	842	30	5		5	RDH13	19	55556517	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	30213	55556517	3572466	13943	17559											
EPS8L1	54869	broad.mit.edu	37	19	55590426	55590426	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:55590426G>A	ENST00000201647.6	+	4	173		c.e4+1		EPS8L1_ENST00000592824.1_Splice_Site|EPS8L1_ENST00000586329.1_Intron|EPS8L1_ENST00000540810.1_Intron	NM_133180.2	NP_573441.2	Q8TE68	ES8L1_HUMAN	EPS8-like 1							cytoplasm				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|prostate(1)	12			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		CCCAGTCAATGTGAGTCTGGG	0.557													17	28					0	0	1	0	0	A	55590426	G	A	55590426	5	1	81	1	0	0	0	0	0	0	1	0	5223	1391	48	2	128	2	EPS8L1	19	55590426	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	33909	55590426	3538557	13944	17560											
EPS8L1	54869	broad.mit.edu	37	19	55597258	55597258	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:55597258G>T	ENST00000201647.6	+	15	1491	c.1435G>T	c.(1435-1437)Gca>Tca	p.A479S	EPS8L1_ENST00000245618.5_Missense_Mutation_p.A352S|EPS8L1_ENST00000586329.1_Missense_Mutation_p.A493S|EPS8L1_ENST00000588359.1_Missense_Mutation_p.A165S|EPS8L1_ENST00000540810.1_Missense_Mutation_p.A415S	NM_133180.2	NP_573441.2	Q8TE68	ES8L1_HUMAN	EPS8-like 1	479	SH3.					cytoplasm				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|prostate(1)	12			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		GTCAGAGACAGCAGGAAAATG	0.577													12	22					4.3838e-07	5.09097e-07	1	1	0	T	55597258	G	T	55597258	3	4	81	1	0	0	0	0	1	0	0	0	5223	971	34	4	1541	4	EPS8L1	19	55597258	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	6832	55597258	3531725	13945	17561											
SYT5	6861	broad.mit.edu	37	19	55686268	55686268	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:55686268C>T	ENST00000354308.3	-	7	1177	c.808G>A	c.(808-810)Gac>Aac	p.D270N	SYT5_ENST00000537500.1_Missense_Mutation_p.D270N|CTD-2587H24.5_ENST00000591665.1_RNA|SYT5_ENST00000590851.1_Missense_Mutation_p.D266N	NM_003180.2	NP_003171.2	O00445	SYT5_HUMAN	synaptotagmin V	270	C2 2.				energy reserve metabolic process|regulation of insulin secretion|synaptic transmission	cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane	metal ion binding|transporter activity			kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	18			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		CCTCCTACGTCCATCTTCTTC	0.592													6	41					0	0	1	0	0	T	55686268	C	T	55686268	3	4	81	1	0	0	0	0	1	0	0	0	15534	855	30	2	364	2	SYT5	19	55686268	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	89010	55686268	3442715	13946	17562											
PTPRH	5794	broad.mit.edu	37	19	55693505	55693505	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:55693505C>T	ENST00000376350.3	-	19	3099	c.3077G>A	c.(3076-3078)cGc>cAc	p.R1026H	PTPRH_ENST00000263434.5_Missense_Mutation_p.R848H	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	1026	Tyrosine-protein phosphatase.				apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		GGTTCCTGTGCGACCCACGCC	0.597													15	51					0	0	1	0	0	T	55693505	C	T	55693505	3	4	81	1	0	0	0	0	1	0	0	0	12855	768	27	1	278	1	PTPRH	19	55693505	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	7237	55693505	3435478	13947	17563											
PTPRH	5794	broad.mit.edu	37	19	55702874	55702874	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:55702874G>T	ENST00000376350.3	-	12	2401	c.2379C>A	c.(2377-2379)gtC>gtA	p.V793V	PTPRH_ENST00000263434.5_Silent_p.V615V	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	793					apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		CTCACCTAAAGACCAGATCCC	0.532													19	234					3.73194e-20	4.8702e-20	1	1	0	T	55702874	G	T	55702874	2	4	81	1	0	0	0	0	0	0	0	1	12855	929	33	4		4	PTPRH	19	55702874	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	9369	55702874	3426109	13948	17564											
PTPRH	5794	broad.mit.edu	37	19	55710122	55710122	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:55710122C>A	ENST00000376350.3	-	8	1601	c.1579G>T	c.(1579-1581)Ggt>Tgt	p.G527C	PTPRH_ENST00000588559.1_5'UTR|PTPRH_ENST00000263434.5_Missense_Mutation_p.G349C	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	527	Fibronectin type-III 6.				apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.G527S(1)		breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		ATGTCAGTACCTGAGGTGCTT	0.597													4	48					0.00024832	0.000269806	1	1	0	A	55710122	C	A	55710122	3	1	81	1	0	0	0	0	1	0	0	0	12855	681	24	4	1820	4	PTPRH	19	55710122	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	7248	55710122	3418861	13949	17565											
BRSK1	84446	broad.mit.edu	37	19	55814691	55814691	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:55814691A>G	ENST00000309383.1	+	11	1318	c.1041A>G	c.(1039-1041)gaA>gaG	p.E347E	BRSK1_ENST00000590333.1_Silent_p.E363E|BRSK1_ENST00000326848.7_Silent_p.E42E	NM_032430.1	NP_115806.1	Q8TDC3	BRSK1_HUMAN	BR serine/threonine kinase 1	347	UBA.				establishment of cell polarity|G2/M transition DNA damage checkpoint|neuron differentiation|response to UV	cell junction|cytoplasm|nucleus	magnesium ion binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(15)|ovary(2)|prostate(2)|skin(6)|stomach(1)	48		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0474)		AGAACCAAGAAAAGATGATAT	0.552													5	59					0	0	1	0	0	G	55814691	A	G	55814691	2	3	81	1	0	0	0	0	0	0	0	1	1525	11	1	3		3	BRSK1	19	55814691	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	104569	55814691	3314292	13950	17566											
ZNF628	89887	broad.mit.edu	37	19	55994999	55994999	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:55994999G>A	ENST00000598519.1	+	3	2992	c.2439G>A	c.(2437-2439)caG>caA	p.Q813Q	ZNF628_ENST00000391718.2_Silent_p.Q809Q			Q5EBL2	ZN628_HUMAN	zinc finger protein 628	809						nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|lung(2)	7	Breast(117;0.155)		BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)	GBM - Glioblastoma multiforme(193;0.0531)		CAGGGCCACAGGAAATGAGTG	0.682													6	61					0	0	1	0	0	A	55994999	G	A	55994999	2	1	81	1	0	0	0	0	0	0	0	1	18109	991	35	2		2	ZNF628	19	55994999	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	180308	55994999	3133984	13951	17567											
FIZ1	84922	broad.mit.edu	37	19	56103882	56103882	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:56103882G>A	ENST00000221665.3	-	3	1514	c.1425C>T	c.(1423-1425)tgC>tgT	p.C475C		NM_032836.2	NP_116225.2	Q96SL8	FIZ1_HUMAN	FLT3-interacting zinc finger 1	475					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein kinase binding|receptor binding|zinc ion binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)	11			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)		AGCCCTTGCCGCAGATGTGGC	0.672													5	5					0	0	1	0	0	A	56103882	G	A	56103882	2	1	81	1	0	0	0	0	0	0	0	1	5933	1079	38	1		1	FIZ1	19	56103882	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	108883	56103882	3025101	13952	17568											
CCDC106	29903	broad.mit.edu	37	19	56160635	56160635	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:56160635G>T	ENST00000586790.1	+	2	1000	c.96G>T	c.(94-96)caG>caT	p.Q32H	CCDC106_ENST00000591241.1_Intron|CCDC106_ENST00000308964.3_Missense_Mutation_p.Q32H|CCDC106_ENST00000591578.1_Missense_Mutation_p.Q32H|CCDC106_ENST00000588740.1_Missense_Mutation_p.Q32H			Q9BWC9	CC106_HUMAN	coiled-coil domain containing 106	32						nucleus				endometrium(2)|large_intestine(3)|lung(5)|skin(1)	11		Colorectal(82;0.00403)|Ovarian(87;0.133)	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)		TAGACCCACAGATCTTTTACA	0.582													11	100					1.58986e-06	1.82794e-06	1	1	0	T	56160635	G	T	56160635	3	4	81	1	0	0	0	0	1	0	0	0	2759	933	33	4	102	4	CCDC106	19	56160635	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	56753	56160635	2968348	13953	17569											
NLRP11	204801	broad.mit.edu	37	19	56300722	56300722	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:56300722C>T	ENST00000443188.1	-	10	3267	c.2557G>A	c.(2557-2559)Gcc>Acc	p.A853T	NLRP11_ENST00000589093.1_Missense_Mutation_p.A853T|NLRP11_ENST00000592953.1_Missense_Mutation_p.A754T|NLRP11_ENST00000360133.3_Missense_Mutation_p.A799T|NLRP11_ENST00000589824.2_Missense_Mutation_p.A799T	NM_145007.3	NP_659444.2	P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	853							ATP binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		ATAACTATGGCAATATATTGA	0.413													36	84					0	0	1	0	0	T	56300722	C	T	56300722	3	4	81	1	0	0	0	0	1	0	0	0	10520	710	25	2	556	2	NLRP11	19	56300722	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	140087	56300722	2828261	13954	17570											
NLRP11	204801	broad.mit.edu	37	19	56312942	56312942	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:56312942G>T	ENST00000443188.1	-	7	2877	c.2167C>A	c.(2167-2169)Ctg>Atg	p.L723M	NLRP11_ENST00000589093.1_Missense_Mutation_p.L723M|NLRP11_ENST00000592953.1_Missense_Mutation_p.L624M|NLRP11_ENST00000360133.3_Missense_Mutation_p.L669M|NLRP11_ENST00000589824.2_Missense_Mutation_p.L669M	NM_145007.3	NP_659444.2	P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	723							ATP binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		ACTCACCTCAGATGACTTATT	0.488													25	53					5.61819e-17	7.22971e-17	1	1	0	T	56312942	G	T	56312942	3	4	81	1	0	0	0	0	1	0	0	0	10520	933	33	4	958	4	NLRP11	19	56312942	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	12220	56312942	2816041	13955	17571											
NLRP11	204801	broad.mit.edu	37	19	56320975	56320975	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:56320975C>T	ENST00000443188.1	-	5	1711	c.1001G>A	c.(1000-1002)gGt>gAt	p.G334D	NLRP11_ENST00000589093.1_Missense_Mutation_p.G334D|NLRP11_ENST00000592953.1_Missense_Mutation_p.G235D|NLRP11_ENST00000360133.3_Missense_Mutation_p.G334D|NLRP11_ENST00000589824.2_Missense_Mutation_p.G334D	NM_145007.3	NP_659444.2	P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	334	NACHT.						ATP binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		TCGGCACAGACCCACGAGTAT	0.527													4	42					0	0	1	0	0	T	56320975	C	T	56320975	3	4	81	1	0	0	0	0	1	0	0	0	10520	507	18	2	2132	2	NLRP11	19	56320975	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	8033	56320975	2808008	13956	17572											
NLRP4	147945	broad.mit.edu	37	19	56363645	56363645	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:56363645C>T	ENST00000301295.6	+	2	621	c.199C>T	c.(199-201)Caa>Taa	p.Q67*	NLRP4_ENST00000346986.5_Nonsense_Mutation_p.Q67*	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	67	DAPIN.						ATP binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		TGAAGAACAACAAGCTTGGAA	0.448													26	38					0	0	1	0	0	T	56363645	C	T	56363645	4	4	81	1	0	0	0	0	0	1	0	0	10526	479	17	2	201	2	NLRP4	19	56363645	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	42670	56363645	2765338	13957	17573											
NLRP4	147945	broad.mit.edu	37	19	56369066	56369066	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:56369066G>A	ENST00000301295.6	+	3	729	c.307G>A	c.(307-309)Gca>Aca	p.A103T	NLRP4_ENST00000346986.5_Missense_Mutation_p.A103T|NLRP4_ENST00000587891.1_Missense_Mutation_p.A28T	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	103							ATP binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		TCAAGCTCACGCAAAGCAGAA	0.428													24	21					0	0	1	0	0	A	56369066	G	A	56369066	3	1	81	1	0	0	0	0	1	0	0	0	10526	1087	38	1	313	1	NLRP4	19	56369066	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	5421	56369066	2759917	13958	17574											
NLRP13	126204	broad.mit.edu	37	19	56424591	56424591	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:56424591G>A	ENST00000588751.1	-	5	616	c.592C>T	c.(592-594)Cct>Tct	p.P198S	NLRP13_ENST00000342929.3_Missense_Mutation_p.P198S			Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	198							ATP binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		TGGTCTTTAGGCCAACTGATG	0.483													66	81					0	0	1	0	0	A	56424591	G	A	56424591	3	1	81	1	0	0	0	0	1	0	0	0	10522	1203	42	2	2565	2	NLRP13	19	56424591	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	55525	56424591	2704392	13959	17575											
NLRP8	126205	broad.mit.edu	37	19	56459555	56459555	+	Missense_Mutation	SNP	G	G	A	rs145352424		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:56459555G>A	ENST00000291971.3	+	1	358	c.287G>A	c.(286-288)cGc>cAc	p.R96H	NLRP8_ENST00000590542.1_Missense_Mutation_p.R96H	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	96	DAPIN.					cytoplasm	ATP binding	p.R96H(1)		breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		CCTGGACGACGCGCTTGGGAT	0.512													16	13					0	0	1	0	0	A	56459555	G	A	56459555	3	1	81	1	0	0	0	0	1	0	0	0	10530	1087	38	1	289	1	NLRP8	19	56459555	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	34964	56459555	2669428	13960	17576											
NLRP8	126205	broad.mit.edu	37	19	56466706	56466706	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:56466706G>A	ENST00000291971.3	+	3	1353	c.1282G>A	c.(1282-1284)Gtc>Atc	p.V428I	NLRP8_ENST00000590542.1_Missense_Mutation_p.V428I	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	428	NACHT.					cytoplasm	ATP binding	p.V428I(1)		breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		CTCTGTGTTCGTCCGGTATAT	0.498													6	79					0	0	1	0	0	A	56466706	G	A	56466706	3	1	81	1	0	0	0	0	1	0	0	0	10530	1145	40	1	1292	1	NLRP8	19	56466706	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	7151	56466706	2662277	13961	17577											
NLRP8	126205	broad.mit.edu	37	19	56487536	56487536	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:56487536G>T	ENST00000291971.3	+	8	2814	c.2743G>T	c.(2743-2745)Gat>Tat	p.D915Y	NLRP8_ENST00000590542.1_Missense_Mutation_p.D896Y	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	915						cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		TTGCTGTCAGGATATGATCTC	0.398													38	55					3.09479e-21	4.0498e-21	1	1	0	T	56487536	G	T	56487536	3	4	81	1	0	0	0	0	1	0	0	0	10530	1174	41	5	2773	5	NLRP8	19	56487536	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	20830	56487536	2641447	13962	17578											
NLRP5	126206	broad.mit.edu	37	19	56544907	56544907	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:56544907G>T	ENST00000390649.3	+	9	2447		c.e9-1			NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5							mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		CCCCATTGCAGGTTTAGAAAT	0.478													7	96					0.0293803	0.0300537	1	1	0	T	56544907	G	T	56544907	5	4	81	1	0	0	0	0	0	0	1	0	10527	1014	35	4	2481	4	NLRP5	19	56544907	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	57371	56544907	2584076	13963	17579											
NLRP5	126206	broad.mit.edu	37	19	56572787	56572787	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:56572787C>T	ENST00000390649.3	+	15	3496	c.3496C>T	c.(3496-3498)Caa>Taa	p.Q1166*		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	1166						mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		GTACCCTGTGCAAATAAGGAA	0.498													8	52					0	0	1	0	0	T	56572787	C	T	56572787	4	4	81	1	0	0	0	0	0	1	0	0	10527	711	25	2	3554	2	NLRP5	19	56572787	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	27880	56572787	2556196	13964	17580											
ZSCAN5A	79149	broad.mit.edu	37	19	56734042	56734042	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:56734042C>T	ENST00000587340.1	-	6	1352	c.657G>A	c.(655-657)caG>caA	p.Q219Q	ZSCAN5A_ENST00000587492.1_Silent_p.Q73Q|ZSCAN5A_ENST00000391713.1_Silent_p.Q219Q|ZSCAN5A_ENST00000592355.1_Silent_p.Q219Q|ZSCAN5A_ENST00000254165.3_Silent_p.Q102Q			Q9BUG6	ZSA5A_HUMAN	zinc finger and SCAN domain containing 5A	219					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						TCTCCAAGGTCTGCTTGGGTC	0.488													42	50					0	0	1	0	0	T	56734042	C	T	56734042	2	4	81	1	0	0	0	0	0	0	0	1	18278	912	32	2		2	ZSCAN5A	19	56734042	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	161255	56734042	2394941	13965	17581											
ZNF583	147949	broad.mit.edu	37	19	56925731	56925731	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:56925731C>A	ENST00000333201.9	+	4	364	c.154C>A	c.(154-156)Cca>Aca	p.P52T	ZNF583_ENST00000291598.7_Missense_Mutation_p.P52T	NM_001159861.1|NM_152478.2	NP_001153333.1|NP_689691.2	Q96ND8	ZN583_HUMAN	zinc finger protein 583	52	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(2)|prostate(1)|skin(1)	26		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0564)		TGTTTCTAAGCCAGATGTGAT	0.433													26	72					1.06801e-11	1.32596e-11	1	1	0	A	56925731	C	A	56925731	3	1	81	1	0	0	0	0	1	0	0	0	18072	739	26	5	164	5	ZNF583	19	56925731	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	191689	56925731	2203252	13966	17582											
ZNF583	147949	broad.mit.edu	37	19	56935667	56935667	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:56935667T>C	ENST00000333201.9	+	5	1850	c.1640T>C	c.(1639-1641)tTc>tCc	p.F547S	ZNF583_ENST00000585612.1_Intron|ZNF583_ENST00000291598.7_Missense_Mutation_p.F547S	NM_001159861.1|NM_152478.2	NP_001153333.1|NP_689691.2	Q96ND8	ZN583_HUMAN	zinc finger protein 583	547					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(2)|prostate(1)|skin(1)	26		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0564)		atggagtcattcttgactctt	0.428													5	39					0	0	1	0	0	C	56935667	T	C	56935667	3	2	81	1	0	0	0	0	1	0	0	0	18072	1783	62	3	1654	3	ZNF583	19	56935667	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	9936	56935667	2193316	13967	17583											
ZNF667	63934	broad.mit.edu	37	19	56953758	56953758	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:56953758G>A	ENST00000504904.3	-	7	1325	c.606C>T	c.(604-606)tgC>tgT	p.C202C	ZNF667_ENST00000342634.3_Silent_p.C330C|ZNF667_ENST00000292069.6_Silent_p.C202C|ZNF667_ENST00000591790.1_3'UTR			Q5HYK9	ZN667_HUMAN	zinc finger protein 667	202					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)		CACATTTATTGCATTCATGGC	0.383													7	142					0	0	1	0	0	A	56953758	G	A	56953758	2	1	81	1	0	0	0	0	0	0	0	1	18131	1311	46	2		2	ZNF667	19	56953758	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	18091	56953758	2175225	13968	17584											
ZNF667	63934	broad.mit.edu	37	19	56972075	56972075	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:56972075C>T	ENST00000591790.1	-	3	1571	c.143G>A	c.(142-144)cGg>cAg	p.R48Q	ZNF667_ENST00000342634.3_Missense_Mutation_p.R141Q|ZNF667_ENST00000292069.6_Missense_Mutation_p.R48Q|ZNF667_ENST00000504904.3_Missense_Mutation_p.R48Q			Q5HYK9	ZN667_HUMAN	zinc finger protein 667	48	KRAB.				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)		GACCAGGTTCCGGTAATTCTC	0.502													14	40					0	0	1	0	0	T	56972075	C	T	56972075	3	4	81	1	0	0	0	0	1	0	0	0	18131	652	23	1	1701	1	ZNF667	19	56972075	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	18317	56972075	2156908	13969	17585											
ZNF471	57573	broad.mit.edu	37	19	57029857	57029857	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:57029857G>A	ENST00000308031.5	+	4	300	c.167G>A	c.(166-168)tGc>tAc	p.C56Y	ZNF471_ENST00000591537.1_Missense_Mutation_p.C56Y|ZNF471_ENST00000593197.1_Intron	NM_020813.2	NP_065864.2	Q9BX82	ZN471_HUMAN	zinc finger protein 471	56	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(8)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0307)		GTAGGTCTTTGCATTTCTAAG	0.398													6	10					0	0	1	0	0	A	57029857	G	A	57029857	3	1	81	1	0	0	0	0	1	0	0	0	17987	1319	46	2	177	2	ZNF471	19	57029857	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	57782	57029857	2099126	13970	17586											
ZNF471	57573	broad.mit.edu	37	19	57036320	57036320	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:57036320G>A	ENST00000308031.5	+	5	1017	c.884G>A	c.(883-885)tGc>tAc	p.C295Y	ZNF471_ENST00000591537.1_Missense_Mutation_p.A155T|ZNF471_ENST00000593197.1_Intron	NM_020813.2	NP_065864.2	Q9BX82	ZN471_HUMAN	zinc finger protein 471	295					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(8)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0307)		TGTAAGGAATGCAGAAAAGCC	0.383													51	105					0	0	1	0	0	A	57036320	G	A	57036320	3	1	81	1	0	0	0	0	1	0	0	0	17987	1319	46	2	898	2	ZNF471	19	57036320	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	6463	57036320	2092663	13971	17587											
ZNF470	388566	broad.mit.edu	37	19	57089032	57089032	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:57089032T>G	ENST00000330619.8	+	6	1921	c.1235T>G	c.(1234-1236)cTt>cGt	p.L412R	ZNF470_ENST00000601902.1_Intron|ZNF470_ENST00000391709.3_Missense_Mutation_p.L412R	NM_001001668.3	NP_001001668.3	Q6ECI4	ZN470_HUMAN	zinc finger protein 470	412					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(7)|large_intestine(12)|lung(11)|ovary(1)|pancreas(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	41		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0294)		CACATAGGACTTATTCAGCAT	0.418													11	98					0	0	1	0	0	G	57089032	T	G	57089032	3	3	81	1	0	0	0	0	1	0	0	0	17986	1609	56	5	1249	5	ZNF470	19	57089032	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	52712	57089032	2039951	13972	17588											
ZNF470	388566	broad.mit.edu	37	19	57089703	57089703	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:57089703C>A	ENST00000330619.8	+	6	2592	c.1906C>A	c.(1906-1908)Ctt>Att	p.L636I	ZNF470_ENST00000601902.1_Intron|ZNF470_ENST00000391709.3_Missense_Mutation_p.L636I	NM_001001668.3	NP_001001668.3	Q6ECI4	ZN470_HUMAN	zinc finger protein 470	636					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(7)|large_intestine(12)|lung(11)|ovary(1)|pancreas(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	41		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0294)		TCGTAAATCCCTTACTCTGCA	0.428													4	51					0.150653	0.152522	1	1	0	A	57089703	C	A	57089703	3	1	81	1	0	0	0	0	1	0	0	0	17986	681	24	4	1920	4	ZNF470	19	57089703	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	671	57089703	2039280	13973	17589											
ZNF470	388566	broad.mit.edu	37	19	57089730	57089730	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:57089730G>T	ENST00000330619.8	+	6	2619	c.1933G>T	c.(1933-1935)Gga>Tga	p.G645*	ZNF470_ENST00000601902.1_Intron|ZNF470_ENST00000391709.3_Nonsense_Mutation_p.G645*	NM_001001668.3	NP_001001668.3	Q6ECI4	ZN470_HUMAN	zinc finger protein 470	645					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(7)|large_intestine(12)|lung(11)|ovary(1)|pancreas(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	41		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0294)		AATTCATACAGGAGAGAAACC	0.413													8	46					5.18039e-06	5.88187e-06	1	1	0	T	57089730	G	T	57089730	4	4	81	1	0	0	0	0	0	1	0	0	17986	1001	35	4	1947	4	ZNF470	19	57089730	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	27	57089730	2039253	13974	17590											
ZNF71	58491	broad.mit.edu	37	19	57133187	57133187	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:57133187C>A	ENST00000328070.6	+	3	766	c.532C>A	c.(532-534)Cgg>Agg	p.R178R		NM_021216.4	NP_067039.1	Q9NQZ8	ZNF71_HUMAN	zinc finger protein 71	178						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)		CATCCACCAGCGGGTGCACAC	0.617													14	16					9.05144e-12	1.12483e-11	1	1	0	A	57133187	C	A	57133187	2	1	81	1	0	0	0	0	0	0	0	1	18170	759	27	5		5	ZNF71	19	57133187	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	43457	57133187	1995796	13975	17591											
ZNF71	58491	broad.mit.edu	37	19	57134091	57134091	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:57134091C>T	ENST00000328070.6	+	3	1670	c.1436C>T	c.(1435-1437)aCg>aTg	p.T479M		NM_021216.4	NP_067039.1	Q9NQZ8	ZNF71_HUMAN	zinc finger protein 71	479						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)		AGCCGCAACACGAACCTGACG	0.642													9	20					0	0	1	0	0	T	57134091	C	T	57134091	3	4	81	1	0	0	0	0	1	0	0	0	18170	536	19	1	1438	1	ZNF71	19	57134091	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	904	57134091	1994892	13976	17592											
ZNF835	90485	broad.mit.edu	37	19	57176010	57176010	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:57176010C>T	ENST00000537055.2	-	2	788	c.557G>A	c.(556-558)cGc>cAc	p.R186H		NM_001005850.2	NP_001005850.2			zinc finger protein 835											endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						CGTGTGCGTGCGCCAGTGGGA	0.721													5	10					0	0	1	0	0	T	57176010	C	T	57176010	3	4	81	1	0	0	0	0	1	0	0	0	18233	768	27	1	1058	1	ZNF835	19	57176010	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	41919	57176010	1952973	13977	17593											
PEG3	5178	broad.mit.edu	37	19	57333113	57333113	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:57333113G>A	ENST00000326441.9	-	7	938	c.575C>T	c.(574-576)cCg>cTg	p.P192L	ZIM2_ENST00000593711.1_Missense_Mutation_p.P67L|PEG3_ENST00000423103.2_Missense_Mutation_p.P192L|PEG3_ENST00000598410.1_Missense_Mutation_p.P67L|ZIM2_ENST00000391708.3_Missense_Mutation_p.P67L|ZIM2_ENST00000601070.1_Missense_Mutation_p.P67L|ZIM2_ENST00000599935.1_Missense_Mutation_p.P67L|PEG3_ENST00000593695.1_Missense_Mutation_p.P66L|ZIM2_ENST00000221722.5_Missense_Mutation_p.P67L	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	192					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		AAGATCCCGCGGAGGCATCCC	0.552													58	67					0	0	1	0	0	A	57333113	G	A	57333113	3	1	81	1	0	0	0	0	1	0	0	0	11767	1116	39	1	4210	1	PEG3	19	57333113	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	157103	57333113	1795870	13978	17594											
USP29	57663	broad.mit.edu	37	19	57641354	57641354	+	Silent	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:57641354T>A	ENST00000254181.4	+	4	1765	c.1311T>A	c.(1309-1311)atT>atA	p.I437I	USP29_ENST00000598197.1_Silent_p.I437I	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	437					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TCTCCCTTATTTGTAAAGCTT	0.398													16	132					0	0	1	0	0	A	57641354	T	A	57641354	2	1	81	1	0	0	0	0	0	0	0	1	17119	1829	64	5		5	USP29	19	57641354	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	308241	57641354	1487629	13979	17595											
USP29	57663	broad.mit.edu	37	19	57641872	57641872	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:57641872G>A	ENST00000254181.4	+	4	2283	c.1829G>A	c.(1828-1830)tGt>tAt	p.C610Y	USP29_ENST00000598197.1_Missense_Mutation_p.C610Y	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	610					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CAGAGAGACTGTGGAGATGCA	0.478													12	30					0	0	1	0	0	A	57641872	G	A	57641872	3	1	81	1	0	0	0	0	1	0	0	0	17119	1377	48	2	1831	2	USP29	19	57641872	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	518	57641872	1487111	13980	17596											
DUXA	503835	broad.mit.edu	37	19	57669820	57669820	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:57669820C>T	ENST00000554048.2	-	4	313	c.314G>A	c.(313-315)cGt>cAt	p.R105H		NM_001012729.1	NP_001012747.1	A6NLW8	DUXA_HUMAN	double homeobox A	105						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	17		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0123)		GTAGGTGGTACGACACCGTCT	0.468													5	51					0	0	1	0	0	T	57669820	C	T	57669820	3	4	81	1	0	0	0	0	1	0	0	0	4860	536	19	1	312	1	DUXA	19	57669820	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	27948	57669820	1459163	13981	17597											
ZNF264	9422	broad.mit.edu	37	19	57723301	57723301	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:57723301G>A	ENST00000263095.6	+	4	1250	c.836G>A	c.(835-837)cGg>cAg	p.R279Q	ZNF264_ENST00000536056.1_Missense_Mutation_p.R279Q	NM_003417.4	NP_003408.1	O43296	ZN264_HUMAN	zinc finger protein 264	279					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	27		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0135)		CAGCACCAGCGGATTCACAGT	0.517													24	33					0	0	1	0	0	A	57723301	G	A	57723301	3	1	81	1	0	0	0	0	1	0	0	0	17862	1116	39	1	850	1	ZNF264	19	57723301	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	53481	57723301	1405682	13982	17598											
ZNF543	125919	broad.mit.edu	37	19	57835094	57835094	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:57835094G>T	ENST00000321545.4	+	2	408	c.63G>T	c.(61-63)gaG>gaT	p.E21D		NM_213598.3	NP_998763.2	Q08ER8	ZN543_HUMAN	zinc finger protein 543	21	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|kidney(2)|large_intestine(8)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	28		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;0.0257)		TCACCCAGGAGGAGTGGGGAC	0.507													8	108					0.000274275	0.000297259	1	1	0	T	57835094	G	T	57835094	3	4	81	1	0	0	0	0	1	0	0	0	18033	991	35	4	69	4	ZNF543	19	57835094	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	111793	57835094	1293889	13983	17599											
ZNF304	57343	broad.mit.edu	37	19	57865197	57865197	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:57865197C>A	ENST00000391705.3	+	3	422	c.138C>A	c.(136-138)aaC>aaA	p.N46K	ZNF304_ENST00000282286.5_Missense_Mutation_p.N46K|ZNF304_ENST00000443917.2_Missense_Mutation_p.N46K|ZNF304_ENST00000598744.1_Missense_Mutation_p.N4K	NM_020657.2	NP_065708.2	Q9HCX3	ZN304_HUMAN	zinc finger protein 304	46	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)	26		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;0.0265)		TGCTGGAGAACTTTGCACTTG	0.438													18	23					2.4624e-09	2.97042e-09	1	1	0	A	57865197	C	A	57865197	3	1	81	1	0	0	0	0	1	0	0	0	17890	564	20	4	144	4	ZNF304	19	57865197	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	30103	57865197	1263786	13984	17600											
ZNF304	57343	broad.mit.edu	37	19	57869057	57869057	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:57869057G>T	ENST00000391705.3	+	4	2104	c.1820G>T	c.(1819-1821)aGg>aTg	p.R607M	ZNF304_ENST00000282286.5_Missense_Mutation_p.R607M|ZNF304_ENST00000443917.2_Missense_Mutation_p.R654M|ZNF304_ENST00000598744.1_Missense_Mutation_p.R565M	NM_020657.2	NP_065708.2	Q9HCX3	ZN304_HUMAN	zinc finger protein 304	607					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)	26		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;0.0265)		CTGCACCAGAGGGTTCACACT	0.478													5	53					0.184627	0.18622	1	1	0	T	57869057	G	T	57869057	3	4	81	1	0	0	0	0	1	0	0	0	17890	1000	35	4	1830	4	ZNF304	19	57869057	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	3860	57869057	1259926	13985	17601											
ZNF547	284306	broad.mit.edu	37	19	57888581	57888581	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:57888581C>A	ENST00000282282.3	+	4	387	c.237C>A	c.(235-237)ccC>ccA	p.P79P	AC003002.4_ENST00000597658.1_Intron	NM_173631.2	NP_775902.2	Q8IVP9	ZN547_HUMAN	zinc finger protein 547	79	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	12		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CTCCAAAGCCCTGTCTATCTA	0.517													4	49					0.00909568	0.00944708	1	1	0	A	57888581	C	A	57888581	2	1	81	1	0	0	0	0	0	0	0	1	18036	668	24	4		4	ZNF547	19	57888581	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	19524	57888581	1240402	13986	17602											
ZNF547	284306	broad.mit.edu	37	19	57888834	57888834	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:57888834G>T	ENST00000282282.3	+	4	640	c.490G>T	c.(490-492)Gcc>Tcc	p.A164S	AC003002.4_ENST00000597658.1_Intron	NM_173631.2	NP_775902.2	Q8IVP9	ZN547_HUMAN	zinc finger protein 547	164					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	12		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		ATGTGGGAAAGCCTTTAGCCA	0.428													3	29					6.4e-05	7.07494e-05	1	1	0	T	57888834	G	T	57888834	3	4	81	1	0	0	0	0	1	0	0	0	18036	971	34	4	500	4	ZNF547	19	57888834	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	253	57888834	1240149	13987	17603											
ZNF547	284306	broad.mit.edu	37	19	57888885	57888885	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:57888885G>T	ENST00000282282.3	+	4	691	c.541G>T	c.(541-543)Gaa>Taa	p.E181*	AC003002.4_ENST00000597658.1_Intron	NM_173631.2	NP_775902.2	Q8IVP9	ZN547_HUMAN	zinc finger protein 547	181					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	12		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CCACACTGGAGAAAGAACTTA	0.428													18	33					3.32936e-07	3.87413e-07	1	1	0	T	57888885	G	T	57888885	4	4	81	1	0	0	0	0	0	1	0	0	18036	943	33	4	551	4	ZNF547	19	57888885	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	51	57888885	1240098	13988	17604											
ZNF749	388567	broad.mit.edu	37	19	57955361	57955361	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:57955361delG	ENST00000334181.4	+	3	1095	c.845delG	c.(844-846)aggfs	p.R282fs	AC004076.9_ENST00000596831.1_Intron	NM_001023561.2	NP_001018855.2	O43361	ZN749_HUMAN	zinc finger protein 749	282					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)		CTTTCAAAAAGGTCTGACCCC	0.443													29	53	---	---	---	---						-	57955361	G	-	57955361	7	5	81	1	0	1	0	1	0	0	0	0	18181	1000	35	0	855	0	ZNF749	19	57955361	Frame_Shift_Del	DEL	G	TCGA-DU-6392-01A-11D-1705-08	66476	57955361	1173622	13989	17605											
ZNF772	400720	broad.mit.edu	37	19	57987134	57987134	+	Silent	SNP	G	G	A	rs140078393		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:57987134G>A	ENST00000343280.4	-	3	353	c.93C>T	c.(91-93)gaC>gaT	p.D31D	ZNF772_ENST00000356584.3_Silent_p.D31D|ZNF772_ENST00000600175.1_Intron|AC004076.9_ENST00000415705.3_Intron|ZNF772_ENST00000425074.3_Intron|AC004076.9_ENST00000596831.1_Silent_p.D31D|ZNF772_ENST00000601768.1_Intron|ZNF772_ENST00000427512.2_Intron	NM_001024596.2	NP_001019767.1	Q68DY9	ZN772_HUMAN	zinc finger protein 772	31	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.D31D(1)		breast(1)|endometrium(1)|large_intestine(4)|lung(3)	9		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;0.026)|Lung(386;0.174)		ACACGAACACGTCCTCAAAGT	0.567													22	34					0	0	1	0	0	A	57987134	G	A	57987134	2	1	81	1	0	0	0	0	0	0	0	1	18194	1136	40	1		1	ZNF772	19	57987134	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	31773	57987134	1141849	13990	17606											
ZNF772	400720	broad.mit.edu	37	19	57988041	57988041	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:57988041C>A	ENST00000343280.4	-	2	294		c.e2-1		ZNF772_ENST00000356584.3_Splice_Site|ZNF772_ENST00000600175.1_Splice_Site|AC004076.9_ENST00000415705.3_Splice_Site|ZNF772_ENST00000425074.3_Splice_Site|AC004076.9_ENST00000596831.1_Splice_Site|ZNF772_ENST00000601768.1_Intron|ZNF772_ENST00000427512.2_Intron	NM_001024596.2	NP_001019767.1	Q68DY9	ZN772_HUMAN	zinc finger protein 772						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(4)|lung(3)	9		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;0.026)|Lung(386;0.174)		TCATGGGAACCTGTGGGGAAG	0.527													11	19					0.000151284	0.000165917	1	1	0	A	57988041	C	A	57988041	5	1	81	1	0	0	0	0	0	0	1	0	18194	695	24	4	1452	4	ZNF772	19	57988041	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	907	57988041	1140942	13991	17607											
ZNF549	256051	broad.mit.edu	37	19	58049264	58049264	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:58049264C>T	ENST00000376233.3	+	4	1073	c.892C>T	c.(892-894)Cac>Tac	p.H298Y	ZNF550_ENST00000601415.1_Intron|ZNF549_ENST00000240719.3_Missense_Mutation_p.H285Y|ZNF549_ENST00000602149.1_Intron|ZNF549_ENST00000594943.1_Intron	NM_001199295.1	NP_001186224	Q6P9A3	ZN549_HUMAN	zinc finger protein 549	298					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21		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;0.026)		GCAGAGAATTCACACTAGAGA	0.433													48	74					0	0	1	0	0	T	58049264	C	T	58049264	3	4	81	1	0	0	0	0	1	0	0	0	18038	826	29	2	863	2	ZNF549	19	58049264	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	61223	58049264	1079719	13992	17608											
ZNF549	256051	broad.mit.edu	37	19	58049682	58049682	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:58049682G>A	ENST00000376233.3	+	4	1491	c.1310G>A	c.(1309-1311)aGa>aAa	p.R437K	ZNF550_ENST00000601415.1_Intron|ZNF549_ENST00000240719.3_Missense_Mutation_p.R424K|ZNF549_ENST00000602149.1_Intron|ZNF549_ENST00000594943.1_Intron	NM_001199295.1	NP_001186224	Q6P9A3	ZN549_HUMAN	zinc finger protein 549	437					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21		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;0.026)		GAGCACCAGAGAATTCATACT	0.433													23	29					0	0	1	0	0	A	58049682	G	A	58049682	3	1	81	1	0	0	0	0	1	0	0	0	18038	942	33	2	1281	2	ZNF549	19	58049682	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	418	58049682	1079301	13993	17609											
ZNF416	55659	broad.mit.edu	37	19	58084983	58084983	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:58084983T>C	ENST00000196489.3	-	4	511	c.289A>G	c.(289-291)Agt>Ggt	p.S97G		NM_017879.1	NP_060349.1	Q9BWM5	ZN416_HUMAN	zinc finger protein 416	97	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(5)|lung(12)|prostate(1)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259)		GTGGATGGACTGGCCTCTGGA	0.498													3	53					0	0	1	0	0	C	58084983	T	C	58084983	3	2	81	1	0	0	0	0	1	0	0	0	17950	1580	55	3	1499	3	ZNF416	19	58084983	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	35301	58084983	1044000	13994	17610											
ZIK1	284307	broad.mit.edu	37	19	58102102	58102102	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:58102102C>A	ENST00000597850.1	+	4	1138	c.923C>A	c.(922-924)tCc>tAc	p.S308Y	ZIK1_ENST00000307468.4_3'UTR|ZIK1_ENST00000536878.2_Missense_Mutation_p.S295Y|ZIK1_ENST00000599456.1_Missense_Mutation_p.S253Y	NM_001010879.2	NP_001010879.2	Q3SY52	ZIK1_HUMAN	zinc finger protein interacting with K protein 1	308					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	34		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		AGACAAAACTCCAGCCTTGTT	0.453													6	36					0.0215528	0.0221217	1	1	0	A	58102102	C	A	58102102	3	1	81	1	0	0	0	0	1	0	0	0	17741	855	30	5	937	5	ZIK1	19	58102102	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	17119	58102102	1026881	13995	17611											
ZNF134	7693	broad.mit.edu	37	19	58131538	58131538	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:58131538T>C	ENST00000396161.5	+	3	361	c.51T>C	c.(49-51)caT>caC	p.H17H	ZNF134_ENST00000597975.1_3'UTR	NM_003435.3	NP_003426.3	P52741	ZN134_HUMAN	zinc finger protein 134	17						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(3)|prostate(1)	11		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)		GTTGTTGGCATGAAGTGAAGG	0.458													8	80					0	0	1	0	0	C	58131538	T	C	58131538	2	2	81	1	0	0	0	0	0	0	0	1	17782	1461	51	3		3	ZNF134	19	58131538	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	29436	58131538	997445	13996	17612											
ZNF134	7693	broad.mit.edu	37	19	58132515	58132515	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:58132515C>T	ENST00000396161.5	+	3	1338	c.1028C>T	c.(1027-1029)cCg>cTg	p.P343L		NM_003435.3	NP_003426.3	P52741	ZN134_HUMAN	zinc finger protein 134	343						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(3)|prostate(1)	11		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)		GAGTCAAAGCCGTTTGAGTGC	0.428													71	109					0	0	1	0	0	T	58132515	C	T	58132515	3	4	81	1	0	0	0	0	1	0	0	0	17782	652	23	1	1034	1	ZNF134	19	58132515	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	977	58132515	996468	13997	17613											
ZNF211	10520	broad.mit.edu	37	19	58152302	58152302	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:58152302C>A	ENST00000544273.1	+	5	811	c.484C>A	c.(484-486)Ctt>Att	p.L162I	ZNF211_ENST00000541801.1_Missense_Mutation_p.L141I|ZNF211_ENST00000420680.1_Missense_Mutation_p.L154I|ZNF211_ENST00000391703.3_Missense_Mutation_p.L89I|ZNF211_ENST00000240731.4_Missense_Mutation_p.L163I|ZNF211_ENST00000299871.5_Missense_Mutation_p.L215I|ZNF211_ENST00000254182.7_Missense_Mutation_p.L141I|ZNF211_ENST00000347302.3_Missense_Mutation_p.L150I			Q13398	ZN211_HUMAN	zinc finger protein 211	150						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CAGTGCAAATCTTCAACAGCA	0.458													5	53					0.248553	0.249876	1	1	0	A	58152302	C	A	58152302	3	1	81	1	0	0	0	0	1	0	0	0	17825	913	32	4	501	4	ZNF211	19	58152302	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	19787	58152302	976681	13998	17614											
ZNF551	90233	broad.mit.edu	37	19	58198994	58198994	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:58198994G>A	ENST00000282296.5	+	3	1536	c.1351G>A	c.(1351-1353)Gaa>Aaa	p.E451K	ZNF551_ENST00000596085.1_Intron|ZNF551_ENST00000356715.4_Missense_Mutation_p.E435K|AC003006.7_ENST00000599221.1_Intron|AC003006.7_ENST00000594684.1_Intron			Q7Z340	ZN551_HUMAN	zinc finger protein 551	451					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)	15		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		TGAATGCAGAGAATGTGGGAA	0.428													33	53					0	0	1	0	0	A	58198994	G	A	58198994	3	1	81	1	0	0	0	0	1	0	0	0	18040	943	33	2	1313	2	ZNF551	19	58198994	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	46692	58198994	929989	13999	17615											
ZNF154	7710	broad.mit.edu	37	19	58213677	58213677	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:58213677C>A	ENST00000512439.2	-	3	836	c.640G>T	c.(640-642)Gta>Tta	p.V214L	ZNF551_ENST00000596085.1_Intron|ZNF154_ENST00000426889.1_Missense_Mutation_p.V214L|AC003006.7_ENST00000599221.1_Intron|AC003006.7_ENST00000594684.1_Intron			Q13106	ZN154_HUMAN	zinc finger protein 154	214						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(7)|lung(3)	12		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		TGAGGTCGTACTGCAGTGTGA	0.443													27	84					8.24728e-16	1.05515e-15	1	1	0	A	58213677	C	A	58213677	3	1	81	1	0	0	0	0	1	0	0	0	17793	565	20	4	677	4	ZNF154	19	58213677	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	14683	58213677	915306	14000	17616											
ZNF671	79891	broad.mit.edu	37	19	58232137	58232137	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:58232137G>A	ENST00000317398.6	-	4	1412	c.1317C>T	c.(1315-1317)caC>caT	p.H439H	ZNF671_ENST00000335820.3_Silent_p.H341H|AC003006.7_ENST00000599221.1_Intron|AC003006.7_ENST00000594684.1_Intron	NM_024833.2	NP_079109.2	Q8TAW3	ZN671_HUMAN	zinc finger protein 671	439					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(1)|large_intestine(6)|liver(1)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		GTACATTAAGGTGGGAGCTTT	0.463													27	52					0	0	1	0	0	A	58232137	G	A	58232137	2	1	81	1	0	0	0	0	0	0	0	1	18135	1252	44	2		2	ZNF671	19	58232137	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	18460	58232137	896846	14001	17617											
ZNF671	79891	broad.mit.edu	37	19	58232809	58232809	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:58232809A>G	ENST00000317398.6	-	4	740	c.645T>C	c.(643-645)aaT>aaC	p.N215N	ZNF671_ENST00000335820.3_Silent_p.N117N|AC003006.7_ENST00000599221.1_Intron|AC003006.7_ENST00000594684.1_Intron	NM_024833.2	NP_079109.2	Q8TAW3	ZN671_HUMAN	zinc finger protein 671	215					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(1)|large_intestine(6)|liver(1)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		GTTTCCCTCCATTGGGCTGGT	0.517													30	59					0	0	1	0	0	G	58232809	A	G	58232809	2	3	81	1	0	0	0	0	0	0	0	1	18135	214	8	3		3	ZNF671	19	58232809	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	672	58232809	896174	14002	17618											
ZNF776	284309	broad.mit.edu	37	19	58262160	58262160	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:58262160T>C	ENST00000317178.5	+	2	304	c.41T>C	c.(40-42)gTg>gCg	p.V14A	ZNF776_ENST00000431353.1_Missense_Mutation_p.V14A|AC003006.7_ENST00000594684.1_Missense_Mutation_p.V14A	NM_173632.3	NP_775903.3			zinc finger protein 776											cervix(1)|endometrium(2)|kidney(13)|large_intestine(3)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	31		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0256)		CAGGGCACTGTGACCTTTGAA	0.498													7	54					0	0	1	0	0	C	58262160	T	C	58262160	3	2	81	1	0	0	0	0	1	0	0	0	18198	1696	59	3	47	3	ZNF776	19	58262160	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	29351	58262160	866823	14003	17619											
ZNF776	284309	broad.mit.edu	37	19	58264658	58264658	+	Nonstop_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:58264658G>T	ENST00000431353.1	+	3	395	c.177G>T	c.(175-177)taG>taT	p.*59Y	ZNF776_ENST00000317178.5_Splice_Site|AC003006.7_ENST00000594684.1_Splice_Site					zinc finger protein 776											cervix(1)|endometrium(2)|kidney(13)|large_intestine(3)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	31		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0256)		ATTTCTTTTAGGTTGTTGGTA	0.408													10	106					0.000978159	0.00104673	1	1	0	T	58264658	G	T	58264658	4	4	81	1	0	0	0	0	0	0	0	0	18198	1014	35	4	170	4	ZNF776	19	58264658	Nonstop_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2498	58264658	864325	14004	17620											
ZNF586	54807	broad.mit.edu	37	19	58301644	58301644	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:58301644C>T	ENST00000598183.1	+	2	215	c.39C>T	c.(37-39)agC>agT	p.S13S	ZNF586_ENST00000599802.1_Intron|ZNF586_ENST00000598885.1_Silent_p.S13S			Q9NXT0	ZN586_HUMAN	zinc finger protein 586	13					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)	15		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CATAACAGAGCAGTGTGACCT	0.488													9	131					0	0	1	0	0	T	58301644	C	T	58301644	2	4	81	1	0	0	0	0	0	0	0	1	18076	725	25	2		2	ZNF586	19	58301644	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	36986	58301644	827339	14005	17621											
ZNF417	147687	broad.mit.edu	37	19	58420585	58420585	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:58420585C>T	ENST00000312026.5	-	3	1225	c.1061G>A	c.(1060-1062)tGt>tAt	p.C354Y	ZNF417_ENST00000536263.1_Missense_Mutation_p.C155Y|CTD-2583A14.9_ENST00000602124.1_Intron|ZNF417_ENST00000595559.1_Missense_Mutation_p.C353Y	NM_152475.2	NP_689688.2	Q8TAU3	ZN417_HUMAN	zinc finger protein 417	354					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|stomach(3)|upper_aerodigestive_tract(1)	18		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0151)		ACATTCCCCACAGTGATAAGC	0.428													13	148					0	0	1	0	0	T	58420585	C	T	58420585	3	4	81	1	0	0	0	0	1	0	0	0	17951	478	17	2	670	2	ZNF417	19	58420585	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	118941	58420585	708398	14006	17622											
ZNF417	147687	broad.mit.edu	37	19	58420783	58420783	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:58420783C>T	ENST00000312026.5	-	3	1027	c.863G>A	c.(862-864)cGa>cAa	p.R288Q	ZNF417_ENST00000536263.1_Missense_Mutation_p.R89Q|CTD-2583A14.9_ENST00000602124.1_Intron|ZNF417_ENST00000595559.1_Missense_Mutation_p.R287Q	NM_152475.2	NP_689688.2	Q8TAU3	ZN417_HUMAN	zinc finger protein 417	288					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|stomach(3)|upper_aerodigestive_tract(1)	18		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0151)		AGTGTGGACTCGCTGATGTTG	0.458													57	126					0	0	1	0	0	T	58420783	C	T	58420783	3	4	81	1	0	0	0	0	1	0	0	0	17951	884	31	1	868	1	ZNF417	19	58420783	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	198	58420783	708200	14007	17623											
ZNF418	147686	broad.mit.edu	37	19	58438335	58438335	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:58438335T>G	ENST00000396147.1	-	4	1505	c.1214A>C	c.(1213-1215)aAa>aCa	p.K405T	ZNF418_ENST00000600989.1_Intron|ZNF418_ENST00000595830.1_Missense_Mutation_p.K405T|ZNF418_ENST00000425570.3_Missense_Mutation_p.K426T|ZNF418_ENST00000599852.1_Missense_Mutation_p.K320T	NM_133460.1	NP_597717.1	Q8TF45	ZN418_HUMAN	zinc finger protein 418	405					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	31		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0158)		ACTAAAAGATTTCCCACATTC	0.433													51	88					0	0	1	0	0	G	58438335	T	G	58438335	3	3	81	1	0	0	0	0	1	0	0	0	17952	1841	64	5	820	5	ZNF418	19	58438335	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	17552	58438335	690648	14008	17624											
ZNF606	80095	broad.mit.edu	37	19	58490723	58490723	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:58490723G>T	ENST00000341164.4	-	7	1945	c.1325C>A	c.(1324-1326)gCc>gAc	p.A442D	ZNF606_ENST00000536132.1_Missense_Mutation_p.A352D	NM_025027.3	NP_079303.2	Q8WXB4	ZN606_HUMAN	zinc finger protein 606	442					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)		TTTCGTAAGGGCTGAGCGATT	0.363													11	27					3.07112e-06	3.5041e-06	1	1	0	T	58490723	G	T	58490723	3	4	81	1	0	0	0	0	1	0	0	0	18089	1203	42	5	1057	5	ZNF606	19	58490723	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	52388	58490723	638260	14009	17625											
ZSCAN1	284312	broad.mit.edu	37	19	58549309	58549309	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:58549309A>G	ENST00000282326.1	+	3	352	c.105A>G	c.(103-105)gaA>gaG	p.E35E	ZSCAN1_ENST00000601162.1_Silent_p.E35E|ZSCAN1_ENST00000391700.1_Silent_p.E35E	NM_182572.3	NP_872378.3	Q8NBB4	ZSCA1_HUMAN	zinc finger and SCAN domain containing 1	35					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		GGGACACCGAAGCCCAGCGTC	0.716													3	10					0	0	1	0	0	G	58549309	A	G	58549309	2	3	81	1	0	0	0	0	0	0	0	1	18268	69	3	3		3	ZSCAN1	19	58549309	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	58586	58549309	579674	14010	17626											
ZSCAN1	284312	broad.mit.edu	37	19	58564856	58564856	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:58564856G>A	ENST00000282326.1	+	6	911	c.664G>A	c.(664-666)Gca>Aca	p.A222T		NM_182572.3	NP_872378.3	Q8NBB4	ZSCA1_HUMAN	zinc finger and SCAN domain containing 1	222					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		GGACCTTCTCGCAGGGCCCTC	0.622													4	47					0	0	1	0	0	A	58564856	G	A	58564856	3	1	81	1	0	0	0	0	1	0	0	0	18268	1087	38	1	678	1	ZSCAN1	19	58564856	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	15547	58564856	564127	14011	17627											
ZSCAN18	65982	broad.mit.edu	37	19	58596375	58596375	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:58596375C>T	ENST00000240727.6	-	7	1609	c.1210G>A	c.(1210-1212)Gag>Aag	p.E404K	ZSCAN18_ENST00000421612.2_Missense_Mutation_p.E268K|ZSCAN18_ENST00000600404.1_Missense_Mutation_p.E460K|ZSCAN18_ENST00000601144.1_Missense_Mutation_p.E404K	NM_023926.4	NP_076415.3	Q8TBC5	ZSC18_HUMAN	zinc finger and SCAN domain containing 18	404					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|skin(3)	19		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		AAGCCCGGCTCGTCAGCCCCA	0.736													3	6					0	0	1	0	0	T	58596375	C	T	58596375	3	4	81	1	0	0	0	0	1	0	0	0	18271	893	31	1	326	1	ZSCAN18	19	58596375	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	31519	58596375	532608	14012	17628											
ZNF329	79673	broad.mit.edu	37	19	58640145	58640145	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:58640145C>A	ENST00000598312.1	-	4	959	c.726G>T	c.(724-726)aaG>aaT	p.K242N	ZNF329_ENST00000358067.4_Missense_Mutation_p.K242N	NM_024620.3	NP_078896.3	Q86UD4	ZN329_HUMAN	zinc finger protein 329	242					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|large_intestine(10)|lung(5)|skin(3)|urinary_tract(1)	20		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.029)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)|Lung(386;0.216)		GGTTGTAGTTCTTGGAGAAGG	0.448													61	84					1.80625e-27	2.39933e-27	1	1	0	A	58640145	C	A	58640145	3	1	81	1	0	0	0	0	1	0	0	0	17904	912	32	4	903	4	ZNF329	19	58640145	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	43770	58640145	488838	14013	17629											
ZNF329	79673	broad.mit.edu	37	19	58640739	58640739	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:58640739C>T	ENST00000598312.1	-	4	365	c.132G>A	c.(130-132)gaG>gaA	p.E44E	ZNF329_ENST00000358067.4_Silent_p.E44E	NM_024620.3	NP_078896.3	Q86UD4	ZN329_HUMAN	zinc finger protein 329	44					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|large_intestine(10)|lung(5)|skin(3)|urinary_tract(1)	20		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.029)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)|Lung(386;0.216)		TCAAGTGTCCCTCCTGGTTCT	0.473													9	159					0	0	1	0	0	T	58640739	C	T	58640739	2	4	81	1	0	0	0	0	0	0	0	1	17904	680	24	2		2	ZNF329	19	58640739	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	594	58640739	488244	14014	17630											
ZNF274	10782	broad.mit.edu	37	19	58697164	58697164	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:58697164G>T	ENST00000326804.4	+	3	578	c.119G>T	c.(118-120)aGg>aTg	p.R40M	ZNF274_ENST00000597818.1_3'UTR|ZNF274_ENST00000424679.2_Intron|ZNF274_ENST00000345813.3_Missense_Mutation_p.R40M	NM_001278734.1|NM_133502.1	NP_001265663.1|NP_598009.1	Q96GC6	ZN274_HUMAN	zinc finger protein 274	40	KRAB 1.				viral reproduction	centrosome|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)|skin(1)	21		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.215)		TCCCTGTACAGGGAAGTGATG	0.498													5	69					0.0215528	0.0221217	1	1	0	T	58697164	G	T	58697164	3	4	81	1	0	0	0	0	1	0	0	0	17867	1000	35	4	125	4	ZNF274	19	58697164	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	56425	58697164	431819	14015	17631											
ZNF274	10782	broad.mit.edu	37	19	58724255	58724255	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:58724255A>G	ENST00000326804.4	+	9	2164	c.1705A>G	c.(1705-1707)Agg>Ggg	p.R569G	ZNF274_ENST00000424679.2_Missense_Mutation_p.R464G|ZNF274_ENST00000597818.1_3'UTR|ZNF274_ENST00000345813.3_Missense_Mutation_p.R537G	NM_001278734.1|NM_133502.1	NP_001265663.1|NP_598009.1	Q96GC6	ZN274_HUMAN	zinc finger protein 274	570					viral reproduction	centrosome|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)|skin(1)	21		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.215)		GGAGTGTGGGAGGACCTTCAA	0.522													7	54					0	0	1	0	0	G	58724255	A	G	58724255	3	3	81	1	0	0	0	0	1	0	0	0	17867	295	11	3	1733	3	ZNF274	19	58724255	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	27091	58724255	404728	14016	17632											
ZNF544	27300	broad.mit.edu	37	19	58773033	58773033	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:58773033C>A	ENST00000269829.4	+	7	1535	c.1061C>A	c.(1060-1062)tCt>tAt	p.S354Y	ZNF544_ENST00000596652.1_Missense_Mutation_p.S354Y|CTD-3138B18.5_ENST00000597230.1_RNA|ZNF544_ENST00000600044.1_Missense_Mutation_p.S326Y|ZNF544_ENST00000596929.1_Intron|ZNF544_ENST00000415203.2_Missense_Mutation_p.S326Y|ZNF544_ENST00000599227.1_3'UTR|ZNF544_ENST00000599953.1_Missense_Mutation_p.S212Y|ZNF544_ENST00000600220.1_Missense_Mutation_p.S326Y|ZNF544_ENST00000595981.1_Intron|CTD-3138B18.4_ENST00000600029.1_Intron|ZNF544_ENST00000596825.1_3'UTR	NM_014480.2	NP_055295.2	Q6NX49	ZN544_HUMAN	zinc finger protein 544	354					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)|urinary_tract(1)	18		all_cancers(17;4.17e-12)|all_epithelial(17;1.25e-08)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.17)|GBM - Glioblastoma multiforme(193;0.018)		GAGAAGCCATCTGTGTGTAAT	0.473													8	50					1.12685e-05	1.27052e-05	1	1	0	A	58773033	C	A	58773033	3	1	81	1	0	0	0	0	1	0	0	0	18034	913	32	4	1075	4	ZNF544	19	58773033	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	48778	58773033	355950	14017	17633											
ZNF544	27300	broad.mit.edu	37	19	58773135	58773135	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:58773135C>A	ENST00000269829.4	+	7	1637	c.1163C>A	c.(1162-1164)tCt>tAt	p.S388Y	ZNF544_ENST00000596652.1_Missense_Mutation_p.S388Y|CTD-3138B18.5_ENST00000597230.1_RNA|ZNF544_ENST00000600044.1_Missense_Mutation_p.S360Y|ZNF544_ENST00000596929.1_Intron|ZNF544_ENST00000415203.2_Missense_Mutation_p.S360Y|ZNF544_ENST00000599227.1_3'UTR|ZNF544_ENST00000599953.1_Missense_Mutation_p.S246Y|ZNF544_ENST00000600220.1_Missense_Mutation_p.S360Y|ZNF544_ENST00000595981.1_Intron|CTD-3138B18.4_ENST00000600029.1_Intron|ZNF544_ENST00000596825.1_3'UTR	NM_014480.2	NP_055295.2	Q6NX49	ZN544_HUMAN	zinc finger protein 544	388					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)|urinary_tract(1)	18		all_cancers(17;4.17e-12)|all_epithelial(17;1.25e-08)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.17)|GBM - Glioblastoma multiforme(193;0.018)		TGTGGGAAATCTTTTAGCCAG	0.463													15	48					6.31663e-08	7.44777e-08	1	1	0	A	58773135	C	A	58773135	3	1	81	1	0	0	0	0	1	0	0	0	18034	913	32	4	1177	4	ZNF544	19	58773135	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	102	58773135	355848	14018	17634											
ZSCAN22	342945	broad.mit.edu	37	19	58846361	58846361	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:58846361G>A	ENST00000329665.4	+	2	340	c.193G>A	c.(193-195)Gag>Aag	p.E65K		NM_181846.2	NP_862829.1	P10073	ZSC22_HUMAN	zinc finger and SCAN domain containing 22	65	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|pancreas(1)|prostate(2)	16		all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0289)		TGGTCCACACGAGGCCCTGGC	0.642													19	35					0	0	1	0	0	A	58846361	G	A	58846361	3	1	81	1	0	0	0	0	1	0	0	0	18275	1059	37	1	195	1	ZSCAN22	19	58846361	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	73226	58846361	282622	14019	17635											
ZSCAN22	342945	broad.mit.edu	37	19	58850499	58850499	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:58850499G>T	ENST00000329665.4	+	3	1430	c.1283G>T	c.(1282-1284)aGa>aTa	p.R428I		NM_181846.2	NP_862829.1	P10073	ZSC22_HUMAN	zinc finger and SCAN domain containing 22	428					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|pancreas(1)|prostate(2)	16		all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0289)		CGACATCTGAGAATCCACTCT	0.572													29	43					5.45727e-16	6.98592e-16	1	1	0	T	58850499	G	T	58850499	3	4	81	1	0	0	0	0	1	0	0	0	18275	942	33	4	1289	4	ZSCAN22	19	58850499	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	4138	58850499	278484	14020	17636											
A1BG	1	broad.mit.edu	37	19	58862761	58862761	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:58862761G>A	ENST00000263100.3	-	5	967	c.906C>T	c.(904-906)agC>agT	p.S302S	A1BG-AS1_ENST00000594950.1_RNA|A1BG-AS1_ENST00000600686.1_RNA|A1BG-AS1_ENST00000600379.1_RNA|A1BG-AS1_ENST00000599728.1_RNA|A1BG-AS1_ENST00000593374.1_RNA|A1BG-AS1_ENST00000593960.1_RNA|CTD-2619J13.8_ENST00000599109.1_RNA	NM_130786.3	NP_570602.2	P04217	A1BG_HUMAN	alpha-1-B glycoprotein	302	Ig-like V-type 4.					extracellular region				NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|prostate(2)	15		all_cancers(17;3.04e-16)|all_epithelial(17;7.77e-12)|Lung NSC(17;3.25e-05)|Colorectal(82;5.46e-05)|all_lung(17;0.000129)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(17;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0269)		GCTCACCATCGCTCAGAATCA	0.667													40	48					0	0	1	0	0	A	58862761	G	A	58862761	2	1	81	1	0	0	0	0	0	0	0	1	1	1078	38	1		1	A1BG	19	58862761	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	12262	58862761	266222	14021	17637											
ZNF497	162968	broad.mit.edu	37	19	58868478	58868478	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:58868478G>A	ENST00000311044.3	-	3	712	c.524C>T	c.(523-525)tCg>tTg	p.S175L	ZNF497_ENST00000425453.3_Missense_Mutation_p.S175L|CTD-2619J13.8_ENST00000599109.1_RNA	NM_198458.2	NP_940860.2	Q6ZNH5	ZN497_HUMAN	zinc finger protein 497	175					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|lung(3)|skin(2)	7		all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0278)		GATGAGCTGCGAGTGCGCGCG	0.677													8	8					0	0	1	0	0	A	58868478	G	A	58868478	3	1	81	1	0	0	0	0	1	0	0	0	18003	1059	37	1	976	1	ZNF497	19	58868478	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	5717	58868478	260505	14022	17638											
ZNF497	162968	broad.mit.edu	37	19	58868797	58868797	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:58868797C>A	ENST00000311044.3	-	3	393	c.205G>T	c.(205-207)Ggc>Tgc	p.G69C	ZNF497_ENST00000425453.3_Missense_Mutation_p.G69C|CTD-2619J13.8_ENST00000599109.1_RNA	NM_198458.2	NP_940860.2	Q6ZNH5	ZN497_HUMAN	zinc finger protein 497	69					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|lung(3)|skin(2)	7		all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0278)		CTGCCGGGGCCTCCCTGTTCG	0.746													3	6					0.004672	0.00489345	1	1	0	A	58868797	C	A	58868797	3	1	81	1	0	0	0	0	1	0	0	0	18003	681	24	4	1295	4	ZNF497	19	58868797	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	319	58868797	260186	14023	17639											
ZNF132	7691	broad.mit.edu	37	19	58945037	58945037	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:58945037C>A	ENST00000254166.3	-	3	2174	c.1774G>T	c.(1774-1776)Gtt>Ttt	p.V592F		NM_003433.3	NP_003424.3	P52740	ZN132_HUMAN	zinc finger protein 132	592						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(1)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0171)|Lung(386;0.182)		CCAGTATGAACTTTCTGATGC	0.393													23	88					4.4004e-07	5.1096e-07	1	1	0	A	58945037	C	A	58945037	3	1	81	1	0	0	0	0	1	0	0	0	17780	565	20	4	350	4	ZNF132	19	58945037	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	76240	58945037	183946	14024	17640											
ZNF324B	388569	broad.mit.edu	37	19	58965153	58965153	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:58965153G>A	ENST00000336614.4	+	2	192	c.85G>A	c.(85-87)Gtg>Atg	p.V29M	ZNF324B_ENST00000545523.1_Missense_Mutation_p.V29M|ZNF324B_ENST00000594214.1_Missense_Mutation_p.V29M|ZNF324B_ENST00000391696.1_5'UTR	NM_207395.2	NP_997278.2	Q6AW86	Z324B_HUMAN	zinc finger protein 324B	29	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		GTACCGCCACGTGATGCTGGA	0.562													15	29					0	0	1	0	0	A	58965153	G	A	58965153	3	1	81	1	0	0	0	0	1	0	0	0	17902	1145	40	1	87	1	ZNF324B	19	58965153	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	20116	58965153	163830	14025	17641											
ZNF324B	388569	broad.mit.edu	37	19	58967882	58967882	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:58967882G>A	ENST00000391696.1	+	3	2473	c.1541G>A	c.(1540-1542)gGa>gAa	p.G514E	ZNF324B_ENST00000545523.1_Missense_Mutation_p.G524E|ZNF324B_ENST00000336614.4_Missense_Mutation_p.G524E			Q6AW86	Z324B_HUMAN	zinc finger protein 324B	524					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		TTCCTTCAGGGACATCATCGG	0.632													22	35					0	0	1	0	0	A	58967882	G	A	58967882	3	1	81	1	0	0	0	0	1	0	0	0	17902	1174	41	2	1581	2	ZNF324B	19	58967882	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2729	58967882	161101	14026	17642											
ZNF324B	388569	broad.mit.edu	37	19	58967899	58967899	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:58967899C>T	ENST00000391696.1	+	3	2490	c.1558C>T	c.(1558-1560)Cgc>Tgc	p.R520C	ZNF324B_ENST00000545523.1_Missense_Mutation_p.R530C|ZNF324B_ENST00000336614.4_Missense_Mutation_p.R530C			Q6AW86	Z324B_HUMAN	zinc finger protein 324B	530					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		TCGGAAGGTGCGCCGGGGAGG	0.607													21	26					0	0	1	0	0	T	58967899	C	T	58967899	3	4	81	1	0	0	0	0	1	0	0	0	17902	768	27	1	1598	1	ZNF324B	19	58967899	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	17	58967899	161084	14027	17643											
ZNF324	25799	broad.mit.edu	37	19	58982620	58982620	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:58982620A>G	ENST00000536459.2	+	4	1470	c.761A>G	c.(760-762)gAg>gGg	p.E254G	ZNF324_ENST00000535298.1_Missense_Mutation_p.E31G|ZNF324_ENST00000196482.3_Missense_Mutation_p.E254G			O75467	Z324A_HUMAN	zinc finger protein 324	254					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(2)|prostate(2)|urinary_tract(2)	16		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		CACGCTGGGGAGAAGTCCTTC	0.632													3	22					0	0	1	0	0	G	58982620	A	G	58982620	3	3	81	1	0	0	0	0	1	0	0	0	17901	304	11	3	771	3	ZNF324	19	58982620	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	14721	58982620	146363	14028	17644											
ZNF324	25799	broad.mit.edu	37	19	58983118	58983118	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:58983118C>T	ENST00000536459.2	+	4	1968	c.1259C>T	c.(1258-1260)aCa>aTa	p.T420I	ZNF324_ENST00000535298.1_Missense_Mutation_p.T197I|ZNF324_ENST00000196482.3_Missense_Mutation_p.T420I			O75467	Z324A_HUMAN	zinc finger protein 324	420					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(2)|prostate(2)|urinary_tract(2)	16		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		CGCGTGCACACAGGCGAGAAG	0.672													4	37					0	0	1	0	0	T	58983118	C	T	58983118	3	4	81	1	0	0	0	0	1	0	0	0	17901	478	17	2	1269	2	ZNF324	19	58983118	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	498	58983118	145865	14029	17645											
ZNF324	25799	broad.mit.edu	37	19	58983150	58983150	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:58983150G>A	ENST00000536459.2	+	4	2000	c.1291G>A	c.(1291-1293)Ggc>Agc	p.G431S	ZNF324_ENST00000535298.1_Missense_Mutation_p.G208S|ZNF324_ENST00000196482.3_Missense_Mutation_p.G431S			O75467	Z324A_HUMAN	zinc finger protein 324	431					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(2)|prostate(2)|urinary_tract(2)	16		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		CCCACAGTGCGGCCGCGCCTT	0.677													11	33					0	0	1	0	0	A	58983150	G	A	58983150	3	1	81	1	0	0	0	0	1	0	0	0	17901	1116	39	1	1301	1	ZNF324	19	58983150	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	32	58983150	145833	14030	17646											
SLC27A5	10998	broad.mit.edu	37	19	59009889	59009889	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:59009889C>A	ENST00000263093.2	-	10	2175	c.2066G>T	c.(2065-2067)aGg>aTg	p.R689M	SLC27A5_ENST00000599700.1_5'UTR|SLC27A5_ENST00000594786.1_Missense_Mutation_p.R94M|SLC27A5_ENST00000601355.1_Missense_Mutation_p.R605M	NM_012254.2	NP_036386.1	Q9Y2P5	S27A5_HUMAN	solute carrier family 27 (fatty acid transporter), member 5	689					bile acid and bile salt transport|bile acid biosynthetic process|very long-chain fatty acid metabolic process	endoplasmic reticulum membrane|integral to membrane	ATP binding|cholate-CoA ligase activity|long-chain fatty acid-CoA ligase activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.181)		TGATCAGAGCCTCCAGGTTCC	0.607													4	10					1.23904e-05	1.39156e-05	1	1	0	A	59009889	C	A	59009889	3	1	81	1	0	0	0	0	1	0	0	0	14584	681	24	4	10	4	SLC27A5	19	59009889	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	26739	59009889	119094	14031	17647											
SLC27A5	10998	broad.mit.edu	37	19	59009910	59009910	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:59009910G>T	ENST00000263093.2	-	10	2154	c.2045C>A	c.(2044-2046)gCt>gAt	p.A682D	SLC27A5_ENST00000599700.1_5'UTR|SLC27A5_ENST00000594786.1_Missense_Mutation_p.A87D|SLC27A5_ENST00000601355.1_Missense_Mutation_p.A598D	NM_012254.2	NP_036386.1	Q9Y2P5	S27A5_HUMAN	solute carrier family 27 (fatty acid transporter), member 5	682					bile acid and bile salt transport|bile acid biosynthetic process|very long-chain fatty acid metabolic process	endoplasmic reticulum membrane|integral to membrane	ATP binding|cholate-CoA ligase activity|long-chain fatty acid-CoA ligase activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.181)		CTCACACACAGCCTGGTACAT	0.607													7	11					1.26484e-09	1.5311e-09	1	1	0	T	59009910	G	T	59009910	3	4	81	1	0	0	0	0	1	0	0	0	14584	971	34	4	31	4	SLC27A5	19	59009910	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	21	59009910	119073	14032	17648											
SLC27A5	10998	broad.mit.edu	37	19	59010889	59010889	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:59010889T>C	ENST00000263093.2	-	7	1746	c.1637A>G	c.(1636-1638)tAc>tGc	p.Y546C	SLC27A5_ENST00000601355.1_Missense_Mutation_p.Y462C	NM_012254.2	NP_036386.1	Q9Y2P5	S27A5_HUMAN	solute carrier family 27 (fatty acid transporter), member 5	546					bile acid and bile salt transport|bile acid biosynthetic process|very long-chain fatty acid metabolic process	endoplasmic reticulum membrane|integral to membrane	ATP binding|cholate-CoA ligase activity|long-chain fatty acid-CoA ligase activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.181)		GTCGCGGAAGTAGAGGAAGCC	0.662													3	37					0	0	1	0	0	C	59010889	T	C	59010889	3	2	81	1	0	0	0	0	1	0	0	0	14584	1638	57	3	451	3	SLC27A5	19	59010889	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	979	59010889	118094	14033	17649											
SLC27A5	10998	broad.mit.edu	37	19	59022198	59022198	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:59022198G>A	ENST00000263093.2	-	2	897	c.788C>T	c.(787-789)gCt>gTt	p.A263V	SLC27A5_ENST00000601355.1_Missense_Mutation_p.A179V	NM_012254.2	NP_036386.1	Q9Y2P5	S27A5_HUMAN	solute carrier family 27 (fatty acid transporter), member 5	263					bile acid and bile salt transport|bile acid biosynthetic process|very long-chain fatty acid metabolic process	endoplasmic reticulum membrane|integral to membrane	ATP binding|cholate-CoA ligase activity|long-chain fatty acid-CoA ligase activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.181)		AGCCCCCAGAGCCCCCACCCC	0.637													5	11					0	0	1	0	0	A	59022198	G	A	59022198	3	1	81	1	0	0	0	0	1	0	0	0	14584	971	34	2	1320	2	SLC27A5	19	59022198	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	11309	59022198	106785	14034	17650											
ZBTB45	84878	broad.mit.edu	37	19	59028463	59028463	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:59028463G>T	ENST00000594051.1	-	2	1058	c.578C>A	c.(577-579)cCt>cAt	p.P193H	ZBTB45_ENST00000600990.1_Missense_Mutation_p.P193H|ZBTB45_ENST00000354590.3_Missense_Mutation_p.P193H			Q96K62	ZBT45_HUMAN	zinc finger and BTB domain containing 45	193	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|lung(5)|urinary_tract(1)	11		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0165)|Lung(386;0.18)		GTCAGCATCAGGCCCCTCAGC	0.682											OREG0025700	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	50	93					1.19451e-25	1.58128e-25	1	1	0	T	59028463	G	T	59028463	3	4	81	1	0	0	0	0	1	0	0	0	17605	1000	35	4	965	4	ZBTB45	19	59028463	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	6265	59028463	100520	14035	17651											
ZBTB45	84878	broad.mit.edu	37	19	59028593	59028593	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:59028593G>A	ENST00000594051.1	-	2	928	c.448C>T	c.(448-450)Cgt>Tgt	p.R150C	ZBTB45_ENST00000600990.1_Missense_Mutation_p.R150C|ZBTB45_ENST00000354590.3_Missense_Mutation_p.R150C			Q96K62	ZBT45_HUMAN	zinc finger and BTB domain containing 45	150	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|lung(5)|urinary_tract(1)	11		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0165)|Lung(386;0.18)		AGGCGGTGACGCAGCTGCGCA	0.741											OREG0025700	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	12					0	0	1	0	0	A	59028593	G	A	59028593	3	1	81	1	0	0	0	0	1	0	0	0	17605	1087	38	1	1095	1	ZBTB45	19	59028593	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	130	59028593	100390	14036	17652											
ZBTB45	84878	broad.mit.edu	37	19	59028726	59028726	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:59028726G>A	ENST00000594051.1	-	2	795	c.315C>T	c.(313-315)gcC>gcT	p.A105A	ZBTB45_ENST00000600990.1_Silent_p.A105A|ZBTB45_ENST00000354590.3_Silent_p.A105A			Q96K62	ZBT45_HUMAN	zinc finger and BTB domain containing 45	105					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|lung(5)|urinary_tract(1)	11		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0165)|Lung(386;0.18)		GCACTGACGCGGCCGTGAGCA	0.662											OREG0025700	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	17	39					0	0	1	0	0	A	59028726	G	A	59028726	2	1	81	1	0	0	0	0	0	0	0	1	17605	1103	39	1		1	ZBTB45	19	59028726	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	133	59028726	100257	14037	17653											
TRIM28	10155	broad.mit.edu	37	19	59057241	59057241	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:59057241G>A	ENST00000253024.5	+	3	853	c.564G>A	c.(562-564)aaG>aaA	p.K188K	TRIM28_ENST00000341753.6_Intron	NM_005762.2	NP_005753.1	Q13263	TIF1B_HUMAN	tripartite motif containing 28	188	RBCC domain.				epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent	nucleoplasm	chromo shadow domain binding|ligase activity|transcription corepressor activity|zinc ion binding			biliary_tract(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)		AGTACACCAAGGACCATACTG	0.557													15	46					0	0	1	0	0	A	59057241	G	A	59057241	2	1	81	1	0	0	0	0	0	0	0	1	16563	991	35	2		2	TRIM28	19	59057241	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	28515	59057241	71742	14038	17654											
TRIM28	10155	broad.mit.edu	37	19	59061149	59061149	+	Missense_Mutation	SNP	G	G	T	rs146551435		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:59061149G>T	ENST00000253024.5	+	14	2317	c.2028G>T	c.(2026-2028)aaG>aaT	p.K676N	TRIM28_ENST00000341753.6_Missense_Mutation_p.K594N	NM_005762.2	NP_005753.1	Q13263	TIF1B_HUMAN	tripartite motif containing 28	676					epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent	nucleoplasm	chromo shadow domain binding|ligase activity|transcription corepressor activity|zinc ion binding			biliary_tract(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)		CTGACCTGAAGGAGGAGGATG	0.597													6	121					0.00198382	0.00209725	1	1	0	T	59061149	G	T	59061149	3	4	81	1	0	0	0	0	1	0	0	0	16563	991	35	4	2082	4	TRIM28	19	59061149	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	3908	59061149	67834	14039	17655											
TRIM28	10155	broad.mit.edu	37	19	59061781	59061781	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:59061781G>A	ENST00000253024.5	+	17	2658	c.2369G>A	c.(2368-2370)cGc>cAc	p.R790H	TRIM28_ENST00000341753.6_Missense_Mutation_p.R708H	NM_005762.2	NP_005753.1	Q13263	TIF1B_HUMAN	tripartite motif containing 28	790	Bromo.				epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent	nucleoplasm	chromo shadow domain binding|ligase activity|transcription corepressor activity|zinc ion binding			biliary_tract(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)		GGCCTGCAGCGCTTCTTCGAG	0.602													22	38					0	0	1	0	0	A	59061781	G	A	59061781	3	1	81	1	0	0	0	0	1	0	0	0	16563	1087	38	1	2435	1	TRIM28	19	59061781	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	632	59061781	67202	14040	17656											
DEFB126	81623	broad.mit.edu	37	20	126110	126110	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:126110G>A	ENST00000382398.3	+	2	373	c.113G>A	c.(112-114)tGc>tAc	p.C38Y	DEFB126_ENST00000542572.1_3'UTR	NM_030931.3	NP_112193.1	Q9BYW3	DB126_HUMAN	defensin, beta 126	38					defense response to bacterium	extracellular region				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(1)	4		all_cancers(10;7.65e-05)|Lung NSC(37;0.0417)|all_epithelial(17;0.0676)|all_lung(30;0.0713)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.122)			AAGAAGAAGTGCAAACCTGAA	0.383													38	32					0	0	1	0	0	A	126110	G	A	126110	3	1	81	1	0	0	0	0	1	0	0	0	4439	1319	46	2	119	2	DEFB126	20	126110	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08		126110	62899410	14041	17657											
DEFB132	400830	broad.mit.edu	37	20	238458	238458	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:238458C>A	ENST00000382376.3	+	1	82	c.39C>A	c.(37-39)ttC>ttA	p.F13L		NM_207469.2	NP_997352.1	Q7Z7B7	DB132_HUMAN	defensin, beta 132	13					defense response to bacterium	extracellular region				breast(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	4						CCCTCGGATTCCTGACCCAGG	0.522													5	27					0.00116845	0.00124301	1	1	0	A	238458	C	A	238458	3	1	81	1	0	0	0	0	1	0	0	0	4445	854	30	5	41	5	DEFB132	20	238458	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	112348	238458	62787062	14042	17658											
C20orf96	140680	broad.mit.edu	37	20	257686	257686	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:257686G>A	ENST00000360321.2	-	8	962	c.824C>T	c.(823-825)gCg>gTg	p.A275V	C20orf96_ENST00000382369.5_Splice_Site_p.A240V|C20orf96_ENST00000400269.3_Splice_Site_p.A217V	NM_080571.1|NM_153269.2	NP_542138.1|NP_695001.2	Q9NUD7	CT096_HUMAN	chromosome 20 open reading frame 96	275										endometrium(3)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	12		all_cancers(10;0.00959)|Lung NSC(37;0.227)	OV - Ovarian serous cystadenocarcinoma(29;0.149)			GCTACTCACCGCCACCACAGA	0.572													81	118					0	0	1	0	0	A	257686	G	A	257686	5	1	81	1	0	0	0	0	0	0	1	0	2136	1101	38	1	283	1	C20orf96	20	257686	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	19228	257686	62767834	14043	17659											
C20orf96	140680	broad.mit.edu	37	20	270254	270254	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:270254G>A	ENST00000360321.2	-	3	271	c.133C>T	c.(133-135)Caa>Taa	p.Q45*	C20orf96_ENST00000382369.5_Intron|C20orf96_ENST00000400269.3_Intron	NM_080571.1|NM_153269.2	NP_542138.1|NP_695001.2	Q9NUD7	CT096_HUMAN	chromosome 20 open reading frame 96	45										endometrium(3)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	12		all_cancers(10;0.00959)|Lung NSC(37;0.227)	OV - Ovarian serous cystadenocarcinoma(29;0.149)			CTGTTGGCTTGTTGGACTGGA	0.502													44	57					0	0	1	0	0	A	270254	G	A	270254	4	1	81	1	0	0	0	0	0	1	0	0	2136	1386	48	2	994	2	C20orf96	20	270254	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	12568	270254	62755266	14044	17660											
NRSN2	80023	broad.mit.edu	37	20	334193	334193	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:334193G>A	ENST00000382291.3	+	4	769	c.529G>A	c.(529-531)Gcc>Acc	p.A177T	NRSN2_ENST00000608736.1_Intron|NRSN2_ENST00000382285.2_Missense_Mutation_p.A177T|NRSN2_ENST00000492242.1_3'UTR	NM_024958.2	NP_079234.1	Q9GZP1	NRSN2_HUMAN	neurensin 2	177						integral to membrane|plasma membrane|transport vesicle				endometrium(1)|large_intestine(2)|lung(4)|urinary_tract(1)	8		all_cancers(10;0.0834)				TTTCCGCAATGCCAGTGGCCA	0.617													14	107					0	0	1	0	0	A	334193	G	A	334193	3	1	81	1	0	0	0	0	1	0	0	0	10711	1319	46	2	535	2	NRSN2	20	334193	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	63939	334193	62691327	14045	17661											
CSNK2A1	1457	broad.mit.edu	37	20	469369	469369	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:469369G>A	ENST00000217244.3	-	11	1152	c.777C>T	c.(775-777)gaC>gaT	p.D259D	CSNK2A1_ENST00000349736.5_Silent_p.D259D|CSNK2A1_ENST00000400227.3_Silent_p.D259D|CSNK2A1_ENST00000400217.2_Silent_p.D123D	NM_177559.2	NP_808227.1	P68400	CSK21_HUMAN	casein kinase 2, alpha 1 polypeptide	259	Protein kinase.				axon guidance|Wnt receptor signaling pathway	cytosol|NuRD complex|plasma membrane|Sin3 complex	ATP binding|protein N-terminus binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1)	17		Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.0969)			TGTTGTATTTGTCAATATAGT	0.348													15	85					0	0	1	0	0	A	469369	G	A	469369	2	1	81	1	0	0	0	0	0	0	0	1	3982	1368	48	2		2	CSNK2A1	20	469369	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	135176	469369	62556151	14046	17662											
SCRT2	85508	broad.mit.edu	37	20	644558	644558	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:644558C>T	ENST00000246104.6	-	2	1258	c.681G>A	c.(679-681)ctG>ctA	p.L227L	RP5-850E9.3_ENST00000488788.2_Intron	NM_033129.3	NP_149120.1	Q9NQ03	SCRT2_HUMAN	scratch family zinc finger 2	227					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(1)|liver(1)|ovary(1)	3						TGTGACCCTGCAGCAGCCAGG	0.692													5	8					0	0	1	0	0	T	644558	C	T	644558	2	4	81	1	0	0	0	0	0	0	0	1	13996	697	25	2		2	SCRT2	20	644558	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	175189	644558	62380962	14047	17663											
ANGPT4	51378	broad.mit.edu	37	20	868969	868969	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:868969G>A	ENST00000381922.3	-	3	681	c.579C>T	c.(577-579)ggC>ggT	p.G193G	ANGPT4_ENST00000546022.1_Silent_p.G193G	NM_015985.2	NP_057069.1	Q9Y264	ANGP4_HUMAN	angiopoietin 4	193					anti-apoptosis|blood coagulation|cellular response to hypoxia|leukocyte migration|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|signal transduction	extracellular space	receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	27						ACCTGTTTTGGCCCTGAAGCT	0.587													14	36					0	0	1	0	0	A	868969	G	A	868969	2	1	81	1	0	0	0	0	0	0	0	1	608	1190	42	2		2	ANGPT4	20	868969	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	224411	868969	62156551	14048	17664											
ANGPT4	51378	broad.mit.edu	37	20	896548	896548	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:896548C>T	ENST00000381922.3	-	1	412		c.e1+1		ANGPT4_ENST00000546022.1_Splice_Site	NM_015985.2	NP_057069.1	Q9Y264	ANGP4_HUMAN	angiopoietin 4						anti-apoptosis|blood coagulation|cellular response to hypoxia|leukocyte migration|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|signal transduction	extracellular space	receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	27						ATGCCCCGTACCTTCTTCAGC	0.597													48	49					0	0	1	0	0	T	896548	C	T	896548	5	4	81	1	0	0	0	0	0	0	1	0	608	521	18	2	1237	2	ANGPT4	20	896548	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	27579	896548	62128972	14049	17665											
ANGPT4	51378	broad.mit.edu	37	20	896851	896851	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:896851A>T	ENST00000381922.3	-	1	109	c.7T>A	c.(7-9)Tcc>Acc	p.S3T	ANGPT4_ENST00000546022.1_Missense_Mutation_p.S3T	NM_015985.2	NP_057069.1	Q9Y264	ANGP4_HUMAN	angiopoietin 4	3					anti-apoptosis|blood coagulation|cellular response to hypoxia|leukocyte migration|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|signal transduction	extracellular space	receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	27						GCTAGCTGGGAGAGCATCTGA	0.607													6	31					0	0	1	0	0	T	896851	A	T	896851	3	4	81	1	0	0	0	0	1	0	0	0	608	304	11	5	1540	5	ANGPT4	20	896851	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	303	896851	62128669	14050	17666											
SIRPB1	10326	broad.mit.edu	37	20	1559045	1559045	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:1559045C>A	ENST00000381605.4	-	2	436	c.372G>T	c.(370-372)cgG>cgT	p.R124R	RP4-576H24.4_ENST00000564763.1_Silent_p.R124R|SIRPB1_ENST00000262929.5_Silent_p.R123R|SIRPB1_ENST00000381603.3_Silent_p.R124R	NM_006065.3	NP_006056.2	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1	124	Ig-like V-type.				cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding			central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						GGCTCCCTTTCCGGAACTTCA	0.547													40	77					1.68508e-10	2.06476e-10	1	1	0	A	1559045	C	A	1559045	2	1	81	1	0	0	0	0	0	0	0	1	14388	842	30	5		5	SIRPB1	20	1559045	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	662194	1559045	61466475	14051	17667											
TGM6	343641	broad.mit.edu	37	20	2411126	2411126	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:2411126G>A	ENST00000202625.2	+	11	1774	c.1713G>A	c.(1711-1713)aaG>aaA	p.K571K	TGM6_ENST00000381423.1_Silent_p.K571K	NM_198994.2	NP_945345.2	O95932	TGM3L_HUMAN	transglutaminase 6	571					cell death|peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52					L-Glutamine(DB00130)	CTTACTCTAAGTATAAAGAAG	0.458													12	94					0	0	1	0	0	A	2411126	G	A	2411126	2	1	81	1	0	0	0	0	0	0	0	1	15894	1020	36	2		2	TGM6	20	2411126	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	852081	2411126	60614394	14052	17668											
TGM6	343641	broad.mit.edu	37	20	2413265	2413265	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:2413265C>T	ENST00000202625.2	+	13	2158	c.2097C>T	c.(2095-2097)atC>atT	p.I699I	TGM6_ENST00000381423.1_3'UTR	NM_198994.2	NP_945345.2	O95932	TGM3L_HUMAN	transglutaminase 6	699					cell death|peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52					L-Glutamine(DB00130)	GCTTTGTGATCGTCCATGTGG	0.567													33	47					0	0	1	0	0	T	2413265	C	T	2413265	2	4	81	1	0	0	0	0	0	0	0	1	15894	874	31	1		1	TGM6	20	2413265	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2139	2413265	60612255	14053	17669											
ZNF343	79175	broad.mit.edu	37	20	2474511	2474511	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:2474511C>A	ENST00000278772.4	-	3	518	c.31G>T	c.(31-33)Gat>Tat	p.D11Y	ZNF343_ENST00000358413.2_Missense_Mutation_p.D11Y|RP4-734P14.4_ENST00000461548.1_Missense_Mutation_p.D11Y|ZNF343_ENST00000381253.1_Missense_Mutation_p.D11Y	NM_001282495.1|NM_001282496.1|NM_024325.4	NP_001269424.1|NP_001269425.1|NP_077301.4	Q6P1L6	ZN343_HUMAN	zinc finger protein 343	11					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|skin(4)|upper_aerodigestive_tract(1)	25						CAGTATTGATCTCCCAGTGCT	0.433													13	152					6.72482e-11	8.27642e-11	1	1	0	A	2474511	C	A	2474511	3	1	81	1	0	0	0	0	1	0	0	0	17915	913	32	4	1784	4	ZNF343	20	2474511	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	61246	2474511	60551009	14054	17670											
TMC2	117532	broad.mit.edu	37	20	2577918	2577918	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:2577918T>C	ENST00000358864.1	+	10	1213	c.1198T>C	c.(1198-1200)Tat>Cat	p.Y400H		NM_080751.2	NP_542789.2	Q8TDI7	TMC2_HUMAN	transmembrane channel-like 2	400						integral to membrane				NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						TGATAACAAATATGCATCCAT	0.512													17	17					0	0	1	0	0	C	2577918	T	C	2577918	3	2	81	1	0	0	0	0	1	0	0	0	16045	1406	49	3	1236	3	TMC2	20	2577918	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	103407	2577918	60447602	14055	17671											
TMC2	117532	broad.mit.edu	37	20	2592911	2592911	+	Silent	SNP	C	C	T	rs144876435	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:2592911C>T	ENST00000358864.1	+	13	1683	c.1668C>T	c.(1666-1668)aaC>aaT	p.N556N	TMC2_ENST00000496948.1_3'UTR	NM_080751.2	NP_542789.2	Q8TDI7	TMC2_HUMAN	transmembrane channel-like 2	556						integral to membrane				NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						CTGGTTGGAACGAGAGTGTCC	0.498													10	98					0	0	1	0	0	T	2592911	C	T	2592911	2	4	81	1	0	0	0	0	0	0	0	1	16045	535	19	1		1	TMC2	20	2592911	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	14993	2592911	60432609	14056	17672											
TMC2	117532	broad.mit.edu	37	20	2592935	2592935	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:2592935G>A	ENST00000358864.1	+	13	1707	c.1692G>A	c.(1690-1692)ctG>ctA	p.L564L	TMC2_ENST00000496948.1_3'UTR	NM_080751.2	NP_542789.2	Q8TDI7	TMC2_HUMAN	transmembrane channel-like 2	564						integral to membrane				NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						GACCACCCCTGCACCCTGCAG	0.493													9	81					0	0	1	0	0	A	2592935	G	A	2592935	2	1	81	1	0	0	0	0	0	0	0	1	16045	1306	46	2		2	TMC2	20	2592935	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	24	2592935	60432585	14057	17673											
TMC2	117532	broad.mit.edu	37	20	2621951	2621951	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:2621951C>T	ENST00000358864.1	+	20	2690	c.2675C>T	c.(2674-2676)cCg>cTg	p.P892L		NM_080751.2	NP_542789.2	Q8TDI7	TMC2_HUMAN	transmembrane channel-like 2	892						integral to membrane				NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						CAGACTCATCCGTGGAGGTCA	0.602													22	22					0	0	1	0	0	T	2621951	C	T	2621951	3	4	81	1	0	0	0	0	1	0	0	0	16045	652	23	1	2753	1	TMC2	20	2621951	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	29016	2621951	60403569	14058	17674											
NOP56	10528	broad.mit.edu	37	20	2634034	2634034	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:2634034C>A	ENST00000329276.5	+	3	719	c.203C>A	c.(202-204)tCt>tAt	p.S68Y		NM_006392.3	NP_006383.2	O00567	NOP56_HUMAN	NOP56 ribonucleoprotein	68					rRNA processing	box C/D snoRNP complex|pre-snoRNP complex	protein binding|snoRNA binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25						AACGCCGTGTCTGAAGGTAAG	0.542													35	37					4.11147e-13	5.17576e-13	1	1	0	A	2634034	C	A	2634034	3	1	81	1	0	0	0	0	1	0	0	0	10586	913	32	4	213	4	NOP56	20	2634034	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	12083	2634034	60391486	14059	17675											
NOP56	10528	broad.mit.edu	37	20	2635158	2635158	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:2635158G>A	ENST00000329276.5	+	4	823	c.307G>A	c.(307-309)Gca>Aca	p.A103T		NM_006392.3	NP_006383.2	O00567	NOP56_HUMAN	NOP56 ribonucleoprotein	103					rRNA processing	box C/D snoRNP complex|pre-snoRNP complex	protein binding|snoRNA binding	p.A103T(2)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25						GATTGGTGCCGCAATACAGGA	0.517													31	43					0	0	1	0	0	A	2635158	G	A	2635158	3	1	81	1	0	0	0	0	1	0	0	0	10586	1087	38	1	321	1	NOP56	20	2635158	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1124	2635158	60390362	14060	17676											
NOP56	10528	broad.mit.edu	37	20	2637823	2637823	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:2637823G>A	ENST00000329276.5	+	11	1894	c.1378G>A	c.(1378-1380)Gcg>Acg	p.A460T	NOP56_ENST00000492135.1_3'UTR	NM_006392.3	NP_006383.2	O00567	NOP56_HUMAN	NOP56 ribonucleoprotein	460	Lys-rich.				rRNA processing	box C/D snoRNP complex|pre-snoRNP complex	protein binding|snoRNA binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25						ACTTGCCCTCGCGTCTTCAGA	0.517													32	39					0	0	1	0	0	A	2637823	G	A	2637823	3	1	81	1	0	0	0	0	1	0	0	0	10586	1087	38	1	1420	1	NOP56	20	2637823	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2665	2637823	60387697	14061	17677											
CPXM1	56265	broad.mit.edu	37	20	2774977	2774977	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:2774977G>T	ENST00000380605.2	-	14	2128	c.2064C>A	c.(2062-2064)acC>acA	p.T688T		NM_001184699.1|NM_019609.4	NP_001171628.1|NP_062555.1	Q96SM3	CPXM1_HUMAN	carboxypeptidase X (M14 family), member 1	688					cell adhesion|proteolysis		metallocarboxypeptidase activity|zinc ion binding			endometrium(5)|kidney(5)|large_intestine(8)|lung(17)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						CCTCTTCAAAGGTGACCCGAC	0.632													13	26					2.61681e-11	3.23796e-11	1	1	0	T	2774977	G	T	2774977	2	4	81	1	0	0	0	0	0	0	0	1	3860	987	35	4		4	CPXM1	20	2774977	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	137154	2774977	60250543	14062	17678											
CPXM1	56265	broad.mit.edu	37	20	2775939	2775939	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:2775939A>C	ENST00000380605.2	-	12	1908	c.1844T>G	c.(1843-1845)cTc>cGc	p.L615R		NM_001184699.1|NM_019609.4	NP_001171628.1|NP_062555.1	Q96SM3	CPXM1_HUMAN	carboxypeptidase X (M14 family), member 1	615					cell adhesion|proteolysis		metallocarboxypeptidase activity|zinc ion binding			endometrium(5)|kidney(5)|large_intestine(8)|lung(17)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						CAGGTAGGTGAGGAGGGCGTC	0.567													28	32					0	0	1	0	0	C	2775939	A	C	2775939	3	2	81	1	0	0	0	0	1	0	0	0	3860	304	11	5	372	5	CPXM1	20	2775939	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	962	2775939	60249581	14063	17679											
VPS16	64601	broad.mit.edu	37	20	2843290	2843290	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:2843290C>T	ENST00000380445.3	+	12	1209	c.1137C>T	c.(1135-1137)gcC>gcT	p.A379A	VPS16_ENST00000380469.3_Intron|VPS16_ENST00000481812.2_3'UTR|VPS16_ENST00000380443.3_Silent_p.A33A	NM_022575.2	NP_072097.2	Q9H269	VPS16_HUMAN	vacuolar protein sorting 16 homolog (S. cerevisiae)	379					intracellular protein transport	early endosome|HOPS complex|late endosome membrane|lysosomal membrane|recycling endosome				NS(3)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	37						TGACCCAGGCCGTGCAGCAGT	0.647													18	28					0	0	1	0	0	T	2843290	C	T	2843290	2	4	81	1	0	0	0	0	0	0	0	1	17253	639	23	1		1	VPS16	20	2843290	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	67351	2843290	60182230	14064	17680											
VPS16	64601	broad.mit.edu	37	20	2845660	2845660	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:2845660G>A	ENST00000380445.3	+	20	2035	c.1963G>A	c.(1963-1965)Gcc>Acc	p.A655T	PTPRA_ENST00000380393.3_5'UTR|VPS16_ENST00000380469.3_Missense_Mutation_p.A511T|VPS16_ENST00000380443.3_Missense_Mutation_p.A341T	NM_022575.2	NP_072097.2	Q9H269	VPS16_HUMAN	vacuolar protein sorting 16 homolog (S. cerevisiae)	655					intracellular protein transport	early endosome|HOPS complex|late endosome membrane|lysosomal membrane|recycling endosome				NS(3)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	37						GCAGACAGCCGCCGATGCCTT	0.572													29	35					0	0	1	0	0	A	2845660	G	A	2845660	3	1	81	1	0	0	0	0	1	0	0	0	17253	1087	38	1	2041	1	VPS16	20	2845660	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2370	2845660	60179860	14065	17681											
PTPRA	5786	broad.mit.edu	37	20	2945784	2945784	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:2945784A>C	ENST00000216877.6	+	5	751	c.351A>C	c.(349-351)agA>agC	p.R117S	PTPRA_ENST00000380393.3_Missense_Mutation_p.R117S|PTPRA_ENST00000425918.2_Missense_Mutation_p.R128S|PTPRA_ENST00000356147.3_Missense_Mutation_p.R117S|PTPRA_ENST00000399903.2_Missense_Mutation_p.R117S|PTPRA_ENST00000318266.5_Missense_Mutation_p.R117S|PTPRA_ENST00000358719.4_5'UTR	NM_080840.2	NP_543030.1	P18433	PTPRA_HUMAN	protein tyrosine phosphatase, receptor type, A	117					axon guidance|protein phosphorylation	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						CGGATGCCAGAACAGAACCCT	0.468													33	54					0	0	1	0	0	C	2945784	A	C	2945784	3	2	81	1	0	0	0	0	1	0	0	0	12847	243	9	5	357	5	PTPRA	20	2945784	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	100124	2945784	60079736	14066	17682											
PTPRA	5786	broad.mit.edu	37	20	2998533	2998533	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:2998533G>A	ENST00000216877.6	+	12	1388	c.988G>A	c.(988-990)Gtt>Att	p.V330I	PTPRA_ENST00000380393.3_Missense_Mutation_p.V339I|PTPRA_ENST00000425918.2_Missense_Mutation_p.V350I|PTPRA_ENST00000356147.3_Missense_Mutation_p.V330I|PTPRA_ENST00000399903.2_Missense_Mutation_p.V339I|PTPRA_ENST00000318266.5_Missense_Mutation_p.V330I|PTPRA_ENST00000358719.4_Missense_Mutation_p.V195I	NM_080840.2	NP_543030.1	P18433	PTPRA_HUMAN	protein tyrosine phosphatase, receptor type, A	339	Tyrosine-protein phosphatase 1.				axon guidance|protein phosphorylation	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						CATCGTCATGGTTACCAACCT	0.443													5	49					0	0	1	0	0	A	2998533	G	A	2998533	3	1	81	1	0	0	0	0	1	0	0	0	12847	1261	44	2	1053	2	PTPRA	20	2998533	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	52749	2998533	60026987	14067	17683											
PTPRA	5786	broad.mit.edu	37	20	3002788	3002788	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:3002788C>T	ENST00000216877.6	+	14	1623	c.1223C>T	c.(1222-1224)cCg>cTg	p.P408L	PTPRA_ENST00000380393.3_Missense_Mutation_p.P417L|PTPRA_ENST00000425918.2_Missense_Mutation_p.P428L|PTPRA_ENST00000356147.3_Missense_Mutation_p.P408L|PTPRA_ENST00000399903.2_Missense_Mutation_p.P417L|PTPRA_ENST00000318266.5_Missense_Mutation_p.P408L|PTPRA_ENST00000358719.4_Missense_Mutation_p.P273L	NM_080840.2	NP_543030.1	P18433	PTPRA_HUMAN	protein tyrosine phosphatase, receptor type, A	417	Tyrosine-protein phosphatase 1.				axon guidance|protein phosphorylation	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						CCTTTTACCCCGATCGGCATG	0.562													27	42					0	0	1	0	0	T	3002788	C	T	3002788	3	4	81	1	0	0	0	0	1	0	0	0	12847	652	23	1	1296	1	PTPRA	20	3002788	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	4255	3002788	60022732	14068	17684											
PTPRA	5786	broad.mit.edu	37	20	3002825	3002825	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:3002825C>A	ENST00000216877.6	+	14	1660	c.1260C>A	c.(1258-1260)gcC>gcA	p.A420A	PTPRA_ENST00000380393.3_Silent_p.A429A|PTPRA_ENST00000425918.2_Silent_p.A440A|PTPRA_ENST00000356147.3_Silent_p.A420A|PTPRA_ENST00000399903.2_Silent_p.A429A|PTPRA_ENST00000318266.5_Silent_p.A420A|PTPRA_ENST00000358719.4_Silent_p.A285A	NM_080840.2	NP_543030.1	P18433	PTPRA_HUMAN	protein tyrosine phosphatase, receptor type, A	429	Tyrosine-protein phosphatase 1.				axon guidance|protein phosphorylation	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						AGGTGAAGGCCTGTAACCCTC	0.587													23	49					1.85244e-09	2.23954e-09	1	1	0	A	3002825	C	A	3002825	2	1	81	1	0	0	0	0	0	0	0	1	12847	668	24	4		4	PTPRA	20	3002825	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	37	3002825	60022695	14069	17685											
PTPRA	5786	broad.mit.edu	37	20	3018748	3018748	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:3018748A>G	ENST00000216877.6	+	23	2751	c.2351A>G	c.(2350-2352)gAt>gGt	p.D784G	PTPRA_ENST00000380393.3_Missense_Mutation_p.D793G|PTPRA_ENST00000425918.2_Missense_Mutation_p.D804G|PTPRA_ENST00000356147.3_Missense_Mutation_p.D784G|PTPRA_ENST00000399903.2_Missense_Mutation_p.D793G|PTPRA_ENST00000318266.5_Missense_Mutation_p.D784G|PTPRA_ENST00000358719.4_Missense_Mutation_p.D649G	NM_080840.2	NP_543030.1	P18433	PTPRA_HUMAN	protein tyrosine phosphatase, receptor type, A	793	Tyrosine-protein phosphatase 2.				axon guidance|protein phosphorylation	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						GAGTATATTGATGCATTCTCA	0.413													9	37					0	0	1	0	0	G	3018748	A	G	3018748	3	3	81	1	0	0	0	0	1	0	0	0	12847	333	12	3	2460	3	PTPRA	20	3018748	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	15923	3018748	60006772	14070	17686											
MRPS26	64949	broad.mit.edu	37	20	3028480	3028480	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:3028480G>A	ENST00000380325.3	+	4	707	c.583G>A	c.(583-585)Ggg>Agg	p.G195R		NM_030811.3	NP_110438.1	Q9BYN8	RT26_HUMAN	mitochondrial ribosomal protein S26	195					DNA damage response, detection of DNA damage	mitochondrial small ribosomal subunit				kidney(1)|lung(1)	2						CACCAGAGAGGGGCTGGTGGT	0.587													4	34					0	0	1	0	0	A	3028480	G	A	3028480	3	1	81	1	0	0	0	0	1	0	0	0	9886	1232	43	2	597	2	MRPS26	20	3028480	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	9732	3028480	59997040	14071	17687											
FASTKD5	60493	broad.mit.edu	37	20	3129661	3129661	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:3129661G>T	ENST00000380266.3	-	2	377	c.56C>A	c.(55-57)cCt>cAt	p.P19H	UBOX5-AS1_ENST00000446537.1_RNA|UBOX5_ENST00000348031.2_Intron|UBOX5_ENST00000217173.2_Intron	NM_021826.4	NP_068598.1	Q7L8L6	FAKD5_HUMAN	FAST kinase domains 5	19					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			breast(2)|endometrium(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(2)	19						AAAGGCAGAAGGACTGCAAAA	0.478													6	74					0.0215528	0.0221217	1	1	0	T	3129661	G	T	3129661	3	4	81	1	0	0	0	0	1	0	0	0	5721	1000	35	4	2242	4	FASTKD5	20	3129661	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	101181	3129661	59895859	14072	17688											
DDRGK1	65992	broad.mit.edu	37	20	3171368	3171368	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:3171368G>A	ENST00000354488.3	-	9	933	c.876C>T	c.(874-876)gcC>gcT	p.A292A	DDRGK1_ENST00000496781.1_5'UTR	NM_023935.1	NP_076424.1	Q96HY6	DDRGK_HUMAN	DDRGK domain containing 1	292						endoplasmic reticulum	protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|skin(2)|urinary_tract(1)	7						GGGCAAGCTCGGCGATGGACA	0.642													21	20					0	0	1	0	0	A	3171368	G	A	3171368	2	1	81	1	0	0	0	0	0	0	0	1	4361	1103	39	1		1	DDRGK1	20	3171368	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	41707	3171368	59854152	14073	17689											
SLC4A11	83959	broad.mit.edu	37	20	3209033	3209033	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:3209033C>A	ENST00000380059.3	-	19	2660	c.2559G>T	c.(2557-2559)caG>caT	p.Q853H	SLC4A11_ENST00000539553.2_Missense_Mutation_p.Q810H|SLC4A11_ENST00000380056.3_Missense_Mutation_p.Q826H	NM_001174090.1	NP_001167561.1	Q8NBS3	S4A11_HUMAN	solute carrier family 4, sodium borate transporter, member 11	826	Membrane (bicarbonate transporter).				cellular cation homeostasis|fluid transport|phosphoenolpyruvate-dependent sugar phosphotransferase system	basolateral plasma membrane|integral to membrane	bicarbonate transmembrane transporter activity|borate transmembrane transporter activity|hydrogen ion channel activity|inorganic anion exchanger activity|sodium channel activity|sugar:hydrogen symporter activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1)	40						GGATCTTCCTCTGGGGCACCC	0.642													6	93					0.0215528	0.0221217	1	1	0	A	3209033	C	A	3209033	3	1	81	1	0	0	0	0	1	0	0	0	14707	912	32	4	205	4	SLC4A11	20	3209033	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	37665	3209033	59816487	14074	17690											
SLC4A11	83959	broad.mit.edu	37	20	3209230	3209230	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:3209230G>A	ENST00000380059.3	-	18	2546	c.2445C>T	c.(2443-2445)ttC>ttT	p.F815F	SLC4A11_ENST00000539553.2_Silent_p.F772F|SLC4A11_ENST00000380056.3_Silent_p.F788F	NM_001174090.1	NP_001167561.1	Q8NBS3	S4A11_HUMAN	solute carrier family 4, sodium borate transporter, member 11	788	Membrane (bicarbonate transporter).				cellular cation homeostasis|fluid transport|phosphoenolpyruvate-dependent sugar phosphotransferase system	basolateral plasma membrane|integral to membrane	bicarbonate transmembrane transporter activity|borate transmembrane transporter activity|hydrogen ion channel activity|inorganic anion exchanger activity|sodium channel activity|sugar:hydrogen symporter activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1)	40						CGATGTAGAGGAAGAGGCCAT	0.677													18	38					0	0	1	0	0	A	3209230	G	A	3209230	2	1	81	1	0	0	0	0	0	0	0	1	14707	1165	41	2		2	SLC4A11	20	3209230	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	197	3209230	59816290	14075	17691											
SLC4A11	83959	broad.mit.edu	37	20	3212183	3212183	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:3212183C>T	ENST00000380059.3	-	8	971	c.870G>A	c.(868-870)aaG>aaA	p.K290K	SLC4A11_ENST00000539553.2_Silent_p.K247K|SLC4A11_ENST00000380056.3_Silent_p.K263K	NM_001174090.1	NP_001167561.1	Q8NBS3	S4A11_HUMAN	solute carrier family 4, sodium borate transporter, member 11	263					cellular cation homeostasis|fluid transport|phosphoenolpyruvate-dependent sugar phosphotransferase system	basolateral plasma membrane|integral to membrane	bicarbonate transmembrane transporter activity|borate transmembrane transporter activity|hydrogen ion channel activity|inorganic anion exchanger activity|sodium channel activity|sugar:hydrogen symporter activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1)	40						CCATCGCAGTCTTAGTGCTTT	0.602													16	40					0	0	1	0	0	T	3212183	C	T	3212183	2	4	81	1	0	0	0	0	0	0	0	1	14707	912	32	2		2	SLC4A11	20	3212183	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2953	3212183	59813337	14076	17692											
SLC4A11	83959	broad.mit.edu	37	20	3214251	3214251	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:3214251A>G	ENST00000380059.3	-	7	868	c.767T>C	c.(766-768)gTg>gCg	p.V256A	SLC4A11_ENST00000539553.2_Missense_Mutation_p.V213A|SLC4A11_ENST00000380056.3_Missense_Mutation_p.V229A	NM_001174090.1	NP_001167561.1	Q8NBS3	S4A11_HUMAN	solute carrier family 4, sodium borate transporter, member 11	229					cellular cation homeostasis|fluid transport|phosphoenolpyruvate-dependent sugar phosphotransferase system	basolateral plasma membrane|integral to membrane	bicarbonate transmembrane transporter activity|borate transmembrane transporter activity|hydrogen ion channel activity|inorganic anion exchanger activity|sodium channel activity|sugar:hydrogen symporter activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1)	40						GCTGATGCACACGTGCCGCTT	0.642													5	33					0	0	1	0	0	G	3214251	A	G	3214251	3	3	81	1	0	0	0	0	1	0	0	0	14707	159	6	3	2045	3	SLC4A11	20	3214251	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	2068	3214251	59811269	14077	17693											
ADAM33	80332	broad.mit.edu	37	20	3652086	3652086	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:3652086T>C	ENST00000356518.2	-	17	2204	c.1963A>G	c.(1963-1965)Act>Gct	p.T655A	ADAM33_ENST00000466620.1_Intron|ADAM33_ENST00000350009.2_Intron|ADAM33_ENST00000379861.4_Missense_Mutation_p.T655A	NM_025220.2	NP_079496.1	Q9BZ11	ADA33_HUMAN	ADAM metallopeptidase domain 33	655	EGF-like.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|skin(3)	29						TGGCAGGCAGTCAGGCAGCGC	0.632													7	87					0	0	1	0	0	C	3652086	T	C	3652086	3	2	81	1	0	0	0	0	1	0	0	0	249	1667	58	3	502	3	ADAM33	20	3652086	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	437835	3652086	59373434	14078	17694											
ADAM33	80332	broad.mit.edu	37	20	3652947	3652947	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:3652947C>A	ENST00000356518.2	-	14	1672	c.1431G>T	c.(1429-1431)caG>caT	p.Q477H	ADAM33_ENST00000466620.1_5'UTR|ADAM33_ENST00000350009.2_Missense_Mutation_p.Q477H|ADAM33_ENST00000379861.4_Missense_Mutation_p.Q477H	NM_025220.2	NP_079496.1	Q9BZ11	ADA33_HUMAN	ADAM metallopeptidase domain 33	477	Disintegrin.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|skin(3)	29						CACCCATGGCCTGGCGGCACA	0.662													5	72					0.0215528	0.0221217	1	1	0	A	3652947	C	A	3652947	3	1	81	1	0	0	0	0	1	0	0	0	249	680	24	4	1046	4	ADAM33	20	3652947	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	861	3652947	59372573	14079	17695											
ADAM33	80332	broad.mit.edu	37	20	3653192	3653192	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:3653192G>A	ENST00000356518.2	-	13	1634	c.1393C>T	c.(1393-1395)Cgc>Tgc	p.R465C	ADAM33_ENST00000466620.1_5'UTR|ADAM33_ENST00000350009.2_Missense_Mutation_p.R465C|ADAM33_ENST00000379861.4_Missense_Mutation_p.R465C	NM_025220.2	NP_079496.1	Q9BZ11	ADA33_HUMAN	ADAM metallopeptidase domain 33	465	Disintegrin.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|skin(3)	29						ACCAGGCAGCGCACGCAGCAG	0.657													21	31					0	0	1	0	0	A	3653192	G	A	3653192	3	1	81	1	0	0	0	0	1	0	0	0	249	1087	38	1	1088	1	ADAM33	20	3653192	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	245	3653192	59372328	14080	17696											
ADAM33	80332	broad.mit.edu	37	20	3654742	3654742	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:3654742C>T	ENST00000356518.2	-	8	948	c.707G>A	c.(706-708)cGt>cAt	p.R236H	ADAM33_ENST00000350009.2_Missense_Mutation_p.R236H|ADAM33_ENST00000379861.4_Missense_Mutation_p.R236H	NM_025220.2	NP_079496.1	Q9BZ11	ADA33_HUMAN	ADAM metallopeptidase domain 33	236	Peptidase M12B.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|skin(3)	29						TTCCAGGAGACGCTGTTTGGT	0.652													8	71					0	0	1	0	0	T	3654742	C	T	3654742	3	4	81	1	0	0	0	0	1	0	0	0	249	536	19	1	1794	1	ADAM33	20	3654742	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1550	3654742	59370778	14081	17697											
ADAM33	80332	broad.mit.edu	37	20	3660180	3660180	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:3660180G>T	ENST00000356518.2	-	2	377	c.136C>A	c.(136-138)Ctg>Atg	p.L46M	ADAM33_ENST00000350009.2_Missense_Mutation_p.L46M|ADAM33_ENST00000379861.4_Missense_Mutation_p.L46M	NM_025220.2	NP_079496.1	Q9BZ11	ADA33_HUMAN	ADAM metallopeptidase domain 33	46					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|skin(3)	29						TGTCCATCCAGGACCCAGTGC	0.637													6	8					0.000442599	0.000477972	1	1	0	T	3660180	G	T	3660180	3	4	81	1	0	0	0	0	1	0	0	0	249	991	35	4	2389	4	ADAM33	20	3660180	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	5438	3660180	59365340	14082	17698											
SIGLEC1	6614	broad.mit.edu	37	20	3670648	3670648	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:3670648G>T	ENST00000344754.4	-	18	4854	c.4855C>A	c.(4855-4857)Ctg>Atg	p.L1619M	SIGLEC1_ENST00000202578.4_Missense_Mutation_p.L1619M	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	1619	Ig-like C2-type 16.				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						GCAGAGCCCAGGACATTTGAG	0.602													13	16					3.45872e-05	3.85959e-05	1	1	0	T	3670648	G	T	3670648	3	4	81	1	0	0	0	0	1	0	0	0	14360	991	35	4	290	4	SIGLEC1	20	3670648	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	10468	3670648	59354872	14083	17699											
SIGLEC1	6614	broad.mit.edu	37	20	3682141	3682141	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:3682141C>A	ENST00000344754.4	-	6	1375	c.1376G>T	c.(1375-1377)aGt>aTt	p.S459I	SIGLEC1_ENST00000202578.4_Missense_Mutation_p.S459I	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	459	Ig-like C2-type 4.				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						GCTGTGATCACTGTCCCCGGA	0.602													25	32					4.59853e-10	5.59907e-10	1	1	0	A	3682141	C	A	3682141	3	1	81	1	0	0	0	0	1	0	0	0	14360	565	20	4	3817	4	SIGLEC1	20	3682141	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	11493	3682141	59343379	14084	17700											
SIGLEC1	6614	broad.mit.edu	37	20	3684577	3684577	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:3684577G>A	ENST00000344754.4	-	4	867	c.868C>T	c.(868-870)Ctg>Ttg	p.L290L	SIGLEC1_ENST00000202578.4_Silent_p.L290L	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	290	Ig-like C2-type 2.				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						GGCAGGTGCAGCACACCAGTC	0.602													15	23					0	0	1	0	0	A	3684577	G	A	3684577	2	1	81	1	0	0	0	0	0	0	0	1	14360	962	34	2		2	SIGLEC1	20	3684577	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2436	3684577	59340943	14085	17701											
C20orf27	54976	broad.mit.edu	37	20	3734741	3734741	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:3734741G>A	ENST00000379772.3	-	6	1299	c.489C>T	c.(487-489)taC>taT	p.Y163Y	C20orf27_ENST00000217195.8_Silent_p.Y188Y	NM_001258429.1	NP_001245358.1	Q9GZN8	CT027_HUMAN	chromosome 20 open reading frame 27	163										central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(4)|urinary_tract(1)	7						GCTCTGAGTCGTATTCCAGCT	0.672													8	9					0	0	1	0	0	A	3734741	G	A	3734741	2	1	81	1	0	0	0	0	0	0	0	1	2121	1140	40	1		1	C20orf27	20	3734741	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	50164	3734741	59290779	14086	17702											
CDC25B	994	broad.mit.edu	37	20	3778368	3778368	+	Silent	SNP	G	G	A	rs147311787	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:3778368G>A	ENST00000245960.5	+	2	997	c.300G>A	c.(298-300)tcG>tcA	p.S100S	CDC25B_ENST00000344256.6_Silent_p.S36S|CDC25B_ENST00000439880.2_Silent_p.S86S|CDC25B_ENST00000340833.4_Silent_p.S100S|CDC25B_ENST00000467519.1_3'UTR|CDC25B_ENST00000379598.5_Silent_p.S36S	NM_004358.3|NM_021872.2|NM_021873.2	NP_004349.1|NP_068658.1|NP_068659.1	P30305	MPIP2_HUMAN	cell division cycle 25B	100					cell division|G2/M transition of mitotic cell cycle|mitosis|positive regulation of cell proliferation	cytosol|microtubule organizing center|nucleoplasm	protein binding|protein tyrosine phosphatase activity			NS(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(1)	18						CCTCCCTGTCGTCTGAATCCT	0.627													54	74					0	0	1	0	0	A	3778368	G	A	3778368	2	1	81	1	0	0	0	0	0	0	0	1	3085	1132	40	1		1	CDC25B	20	3778368	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	43627	3778368	59247152	14087	17703											
MAVS	57506	broad.mit.edu	37	20	3835383	3835383	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:3835383G>A	ENST00000428216.2	+	2	240	c.112G>A	c.(112-114)Gac>Aac	p.D38N	MAVS_ENST00000358134.6_Missense_Mutation_p.D38N|MAVS_ENST00000416600.2_5'UTR	NM_020746.4	NP_065797.2	Q7Z434	MAVS_HUMAN	mitochondrial antiviral signaling protein	38	CARD.|Required for interaction with NLRX1.				activation of innate immune response|cellular response to exogenous dsRNA|defense response to bacterium|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of chemokine (C-C motif) ligand 5 production|positive regulation of defense response to virus by host|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interleukin-8 production|positive regulation of IP-10 production|positive regulation of protein import into nucleus, translocation|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of type I interferon-mediated signaling pathway|response to virus	integral to membrane|mitochondrial outer membrane	CARD domain binding|protein kinase binding|signal transducer activity			autonomic_ganglia(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						CACAGCAAGAGACCAGGTGAG	0.527													18	26					0	0	1	0	0	A	3835383	G	A	3835383	3	1	81	1	0	0	0	0	1	0	0	0	9388	942	33	2	114	2	MAVS	20	3835383	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	57015	3835383	59190137	14088	17704											
MAVS	57506	broad.mit.edu	37	20	3845045	3845045	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:3845045C>A	ENST00000428216.2	+	6	896	c.768C>A	c.(766-768)tcC>tcA	p.S256S	MAVS_ENST00000358134.6_3'UTR|MAVS_ENST00000416600.2_Silent_p.S115S	NM_020746.4	NP_065797.2	Q7Z434	MAVS_HUMAN	mitochondrial antiviral signaling protein	256					activation of innate immune response|cellular response to exogenous dsRNA|defense response to bacterium|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of chemokine (C-C motif) ligand 5 production|positive regulation of defense response to virus by host|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interleukin-8 production|positive regulation of IP-10 production|positive regulation of protein import into nucleus, translocation|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of type I interferon-mediated signaling pathway|response to virus	integral to membrane|mitochondrial outer membrane	CARD domain binding|protein kinase binding|signal transducer activity			autonomic_ganglia(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						CCTTCTCCTCCTCATCCCCTG	0.632													22	28					2.21704e-12	2.77053e-12	1	1	0	A	3845045	C	A	3845045	2	1	81	1	0	0	0	0	0	0	0	1	9388	668	24	4		4	MAVS	20	3845045	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	9662	3845045	59180475	14089	17705											
MAVS	57506	broad.mit.edu	37	20	3846354	3846354	+	Missense_Mutation	SNP	G	G	A	rs143089997		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:3846354G>A	ENST00000428216.2	+	7	1311	c.1183G>A	c.(1183-1185)Gcc>Acc	p.A395T	MAVS_ENST00000358134.6_3'UTR|MAVS_ENST00000416600.2_Missense_Mutation_p.A254T	NM_020746.4	NP_065797.2	Q7Z434	MAVS_HUMAN	mitochondrial antiviral signaling protein	395					activation of innate immune response|cellular response to exogenous dsRNA|defense response to bacterium|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of chemokine (C-C motif) ligand 5 production|positive regulation of defense response to virus by host|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interleukin-8 production|positive regulation of IP-10 production|positive regulation of protein import into nucleus, translocation|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of type I interferon-mediated signaling pathway|response to virus	integral to membrane|mitochondrial outer membrane	CARD domain binding|protein kinase binding|signal transducer activity			autonomic_ganglia(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						TCCAACACCCGCCGGCGCCAC	0.637													6	3					0	0	1	0	0	A	3846354	G	A	3846354	3	1	81	1	0	0	0	0	1	0	0	0	9388	1087	38	1	1205	1	MAVS	20	3846354	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1309	3846354	59179166	14090	17706											
PANK2	80025	broad.mit.edu	37	20	3888790	3888790	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:3888790G>A	ENST00000316562.4	+	2	852	c.846G>A	c.(844-846)ctG>ctA	p.L282L	PANK2_ENST00000610179.1_Silent_p.L159L|PANK2_ENST00000497424.1_5'UTR	NM_153638.2	NP_705902.2	Q9BZ23	PANK2_HUMAN	pantothenate kinase 2	282			L -> V (in NBIA1).		cell death|coenzyme A biosynthetic process|pantothenate metabolic process	mitochondrial intermembrane space|nucleus	ATP binding|pantothenate kinase activity|protein binding	p.L282L(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						AAGGCAATCTGCACTTTATAC	0.498													6	89					0	0	1	0	0	A	3888790	G	A	3888790	2	1	81	1	0	0	0	0	0	0	0	1	11464	1306	46	2		2	PANK2	20	3888790	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	42436	3888790	59136730	14091	17707											
RNF24	11237	broad.mit.edu	37	20	3925866	3925866	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:3925866C>A	ENST00000336095.6	-	4	438		c.e4-1		RNF24_ENST00000358395.6_Splice_Site|RNF24_ENST00000545616.2_Splice_Site|RNF24_ENST00000432261.2_Splice_Site	NM_007219.3	NP_009150.1	Q9Y225	RNF24_HUMAN	ring finger protein 24							Golgi membrane|integral to membrane	zinc ion binding			large_intestine(1)|upper_aerodigestive_tract(1)	2						TTAATATAACCTGTAAGACAA	0.274													24	31					2.70639e-06	3.09322e-06	1	1	0	A	3925866	C	A	3925866	5	1	81	1	0	0	0	0	0	0	1	0	13536	695	24	4	272	4	RNF24	20	3925866	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	37076	3925866	59099654	14092	17708											
SMOX	54498	broad.mit.edu	37	20	4163079	4163079	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:4163079A>G	ENST00000305958.4	+	5	1178	c.953A>G	c.(952-954)gAg>gGg	p.E318G	SMOX_ENST00000339123.6_Intron|SMOX_ENST00000379460.2_Missense_Mutation_p.E318G|SMOX_ENST00000278795.3_Intron|SMOX_ENST00000346595.2_Intron	NM_175839.2	NP_787033.1	Q9NWM0	SMOX_HUMAN	spermine oxidase	318					polyamine biosynthetic process|xenobiotic metabolic process	cytosol|nucleus	polyamine oxidase activity			breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(7)|lung(5)|skin(2)|urinary_tract(1)	26					Spermine(DB00127)	GTGGAGTGCGAGGACTGTGAG	0.632													7	35					0	0	1	0	0	G	4163079	A	G	4163079	3	3	81	1	0	0	0	0	1	0	0	0	14857	304	11	3	967	3	SMOX	20	4163079	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	237213	4163079	58862441	14093	17709											
RASSF2	9770	broad.mit.edu	37	20	4776463	4776463	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:4776463C>T	ENST00000379400.3	-	5	480	c.285G>A	c.(283-285)caG>caA	p.Q95Q	RASSF2_ENST00000379376.2_Silent_p.Q95Q	NM_014737.2	NP_055552.1	P50749	RASF2_HUMAN	Ras association (RalGDS/AF-6) domain family member 2	95					cell cycle|signal transduction	nucleus	protein binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|pancreas(2)|prostate(2)|skin(2)	34						TCACTCACCCCTGAGCCCCCA	0.592													38	63					0	0	1	0	0	T	4776463	C	T	4776463	2	4	81	1	0	0	0	0	0	0	0	1	13138	680	24	2		2	RASSF2	20	4776463	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	613384	4776463	58249057	14094	17710											
SLC23A2	9962	broad.mit.edu	37	20	4837827	4837827	+	Missense_Mutation	SNP	G	G	A	rs139545711	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:4837827G>A	ENST00000379333.1	-	17	2136	c.1744C>T	c.(1744-1746)Cgg>Tgg	p.R582W	SLC23A2_ENST00000424750.2_Missense_Mutation_p.R468W|SLC23A2_ENST00000338244.1_Missense_Mutation_p.R582W	NM_203327.1	NP_976072.1	Q9UGH3	S23A2_HUMAN	solute carrier family 23 (ascorbic acid transporter), member 2	582					L-ascorbic acid metabolic process|molecular hydrogen transport|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transepithelial L-ascorbic acid transport	apical plasma membrane|integral to plasma membrane|membrane fraction	nucleobase transmembrane transporter activity|sodium-dependent L-ascorbate transmembrane transporter activity|sodium-dependent multivitamin transmembrane transporter activity			endometrium(1)|kidney(3)|large_intestine(9)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						TTCCATTTCCGGATTCCTCTT	0.433													10	22					0	0	1	0	0	A	4837827	G	A	4837827	3	1	81	1	0	0	0	0	1	0	0	0	14518	1115	39	1	212	1	SLC23A2	20	4837827	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	61364	4837827	58187693	14095	17711											
SLC23A2	9962	broad.mit.edu	37	20	4864408	4864408	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:4864408G>T	ENST00000379333.1	-	9	1096	c.704C>A	c.(703-705)cCt>cAt	p.P235H	SLC23A2_ENST00000468355.1_5'UTR|SLC23A2_ENST00000424750.2_Intron|SLC23A2_ENST00000338244.1_Missense_Mutation_p.P235H	NM_203327.1	NP_976072.1	Q9UGH3	S23A2_HUMAN	solute carrier family 23 (ascorbic acid transporter), member 2	235					L-ascorbic acid metabolic process|molecular hydrogen transport|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transepithelial L-ascorbic acid transport	apical plasma membrane|integral to plasma membrane|membrane fraction	nucleobase transmembrane transporter activity|sodium-dependent L-ascorbate transmembrane transporter activity|sodium-dependent multivitamin transmembrane transporter activity			endometrium(1)|kidney(3)|large_intestine(9)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						TAGAGCCCCAGGCAGGCCGAG	0.577													7	70					3.09899e-07	3.60815e-07	1	1	0	T	4864408	G	T	4864408	3	4	81	1	0	0	0	0	1	0	0	0	14518	1000	35	4	1284	4	SLC23A2	20	4864408	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	26581	4864408	58161112	14096	17712											
CDS2	8760	broad.mit.edu	37	20	5155838	5155838	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:5155838C>T	ENST00000460006.1	+	3	511	c.204C>T	c.(202-204)aaC>aaT	p.N68N	CDS2_ENST00000379062.4_Intron	NM_003818.3	NP_003809.1	O95674	CDS2_HUMAN	CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 2	68					phospholipid biosynthetic process	integral to membrane|mitochondrial inner membrane	phosphatidate cytidylyltransferase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|stomach(1)	14						GATGGAAGAACTGGTGGGTGA	0.443													44	72					0	0	1	0	0	T	5155838	C	T	5155838	2	4	81	1	0	0	0	0	0	0	0	1	3200	564	20	2		2	CDS2	20	5155838	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	291430	5155838	57869682	14097	17713											
CDS2	8760	broad.mit.edu	37	20	5159552	5159552	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:5159552G>A	ENST00000460006.1	+	5	786	c.479G>A	c.(478-480)cGg>cAg	p.R160Q	CDS2_ENST00000535100.1_5'UTR|CDS2_ENST00000379070.3_3'UTR|CDS2_ENST00000379062.4_Missense_Mutation_p.R40Q	NM_003818.3	NP_003809.1	O95674	CDS2_HUMAN	CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 2	160					phospholipid biosynthetic process	integral to membrane|mitochondrial inner membrane	phosphatidate cytidylyltransferase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|stomach(1)	14						GAGCCTTTGCGGATTCTCAGT	0.393													42	79					0	0	1	0	0	A	5159552	G	A	5159552	3	1	81	1	0	0	0	0	1	0	0	0	3200	1116	39	1	497	1	CDS2	20	5159552	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	3714	5159552	57865968	14098	17714											
CDS2	8760	broad.mit.edu	37	20	5159588	5159588	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:5159588C>T	ENST00000460006.1	+	5	822	c.515C>T	c.(514-516)aCt>aTt	p.T172I	CDS2_ENST00000535100.1_5'UTR|CDS2_ENST00000379070.3_3'UTR|CDS2_ENST00000379062.4_Missense_Mutation_p.T52I	NM_003818.3	NP_003809.1	O95674	CDS2_HUMAN	CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 2	172					phospholipid biosynthetic process	integral to membrane|mitochondrial inner membrane	phosphatidate cytidylyltransferase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|stomach(1)	14						ATTTCCTTTACTCTCTATCTA	0.408													6	97					0	0	1	0	0	T	5159588	C	T	5159588	3	4	81	1	0	0	0	0	1	0	0	0	3200	565	20	2	533	2	CDS2	20	5159588	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	36	5159588	57865932	14099	17715											
GPCPD1	56261	broad.mit.edu	37	20	5560710	5560710	+	Nonsense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:5560710A>C	ENST00000379019.4	-	7	629	c.417T>G	c.(415-417)taT>taG	p.Y139*	GPCPD1_ENST00000481038.1_5'UTR	NM_019593.3	NP_062539.1	Q9NPB8	GPCP1_HUMAN	glycerophosphocholine phosphodiesterase GDE1 homolog (S. cerevisiae)	139					glycerol metabolic process|lipid metabolic process		carbohydrate binding|glycerophosphodiester phosphodiesterase activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|skin(1)	16						GTTTTTCAGAATAATGCAAAC	0.313													28	30					0	0	1	0	0	C	5560710	A	C	5560710	4	2	81	1	0	0	0	0	0	1	0	0	6643	108	4	4	1657	4	GPCPD1	20	5560710	Nonsense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	401122	5560710	57464810	14100	17716											
CHGB	1114	broad.mit.edu	37	20	5897001	5897001	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:5897001A>T	ENST00000378961.4	+	2	283	c.79A>T	c.(79-81)Aac>Tac	p.N27Y	CHGB_ENST00000488832.1_3'UTR	NM_001819.2	NP_001810.2	P05060	SCG1_HUMAN	chromogranin B (secretogranin 1)	27						extracellular region	hormone activity			breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						GGATAACAGGAACCACAATGA	0.398													10	19					0	0	1	0	0	T	5897001	A	T	5897001	3	4	81	1	0	0	0	0	1	0	0	0	3361	246	9	5	85	5	CHGB	20	5897001	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	336291	5897001	57128519	14101	17717											
TRMT6	51605	broad.mit.edu	37	20	5922666	5922666	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:5922666C>A	ENST00000203001.2	-	8	1173	c.1043G>T	c.(1042-1044)aGg>aTg	p.R348M	TRMT6_ENST00000473131.1_5'UTR|TRMT6_ENST00000453074.2_Missense_Mutation_p.R178M	NM_015939.3	NP_057023.2	Q9UJA5	TRM6_HUMAN	tRNA methyltransferase 6 homolog (S. cerevisiae)	348					regulation of translational initiation|tRNA processing	nucleus	protein binding|translation initiation factor activity			breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)	15						TTCTTGTCTCCTCTGTTTTTC	0.423													19	153					1.96292e-10	2.40212e-10	1	1	0	A	5922666	C	A	5922666	3	1	81	1	0	0	0	0	1	0	0	0	16629	681	24	4	466	4	TRMT6	20	5922666	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	25665	5922666	57102854	14102	17718											
MCM8	84515	broad.mit.edu	37	20	5948125	5948125	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:5948125A>G	ENST00000378896.3	+	9	1296	c.919A>G	c.(919-921)Att>Gtt	p.I307V	MCM8_ENST00000265187.4_Missense_Mutation_p.I307V|MCM8_ENST00000378886.2_Missense_Mutation_p.I307V|MCM8_ENST00000378883.1_Missense_Mutation_p.I307V	NM_001281520.1|NM_032485.4|NM_182802.1	NP_001268449.1|NP_115874.3|NP_877954.1	Q9UJA3	MCM8_HUMAN	minichromosome maintenance complex component 8	307					cell cycle checkpoint|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|nucleoside-triphosphatase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	23						AGCAGGTCGGATTCCACGAAC	0.393													7	83					0	0	1	0	0	G	5948125	A	G	5948125	3	3	81	1	0	0	0	0	1	0	0	0	9443	333	12	3	949	3	MCM8	20	5948125	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	25459	5948125	57077395	14103	17719											
MCM8	84515	broad.mit.edu	37	20	5948475	5948475	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:5948475G>A	ENST00000378896.3	+	10	1404		c.e10-1		MCM8_ENST00000265187.4_Intron|MCM8_ENST00000378886.2_Splice_Site|MCM8_ENST00000378883.1_Splice_Site	NM_001281520.1|NM_032485.4|NM_182802.1	NP_001268449.1|NP_115874.3|NP_877954.1	Q9UJA3	MCM8_HUMAN	minichromosome maintenance complex component 8						cell cycle checkpoint|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|nucleoside-triphosphatase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	23						TTAATTTACAGGTTCTCGAAA	0.303													8	29					0	0	1	0	0	A	5948475	G	A	5948475	5	1	81	1	0	0	0	0	0	0	1	0	9443	1014	35	2	1061	2	MCM8	20	5948475	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	350	5948475	57077045	14104	17720											
MCM8	84515	broad.mit.edu	37	20	5974203	5974203	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:5974203C>A	ENST00000378896.3	+	18	2669	c.2292C>A	c.(2290-2292)tcC>tcA	p.S764S	MCM8_ENST00000265187.4_Silent_p.S748S|MCM8_ENST00000378886.2_Silent_p.S804S|MCM8_ENST00000378883.1_Silent_p.S717S	NM_001281520.1|NM_032485.4|NM_182802.1	NP_001268449.1|NP_115874.3|NP_877954.1	Q9UJA3	MCM8_HUMAN	minichromosome maintenance complex component 8	764					cell cycle checkpoint|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|nucleoside-triphosphatase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	23						TTGAGCGATCCCAGCATGGTT	0.363													8	72					0.000442599	0.000477972	1	1	0	A	5974203	C	A	5974203	2	1	81	1	0	0	0	0	0	0	0	1	9443	610	22	5		5	MCM8	20	5974203	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	25728	5974203	57051317	14105	17721											
LRRN4	164312	broad.mit.edu	37	20	6022181	6022181	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:6022181G>A	ENST00000378858.4	-	5	1934	c.1710C>T	c.(1708-1710)tgC>tgT	p.C570C		NM_152611.4	NP_689824.2	Q8WUT4	LRRN4_HUMAN	leucine rich repeat neuronal 4	570						integral to membrane				breast(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	27						TGAGGCCGGGGCACCGGCACC	0.701													33	58					0	0	1	0	0	A	6022181	G	A	6022181	2	1	81	1	0	0	0	0	0	0	0	1	9082	1195	42	2		2	LRRN4	20	6022181	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	47978	6022181	57003339	14106	17722											
LRRN4	164312	broad.mit.edu	37	20	6022650	6022650	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:6022650G>A	ENST00000378858.4	-	5	1465	c.1241C>T	c.(1240-1242)tCt>tTt	p.S414F		NM_152611.4	NP_689824.2	Q8WUT4	LRRN4_HUMAN	leucine rich repeat neuronal 4	414						integral to membrane				breast(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	27						TATCGTGCGAGAGCCCACGTT	0.672													21	31					0	0	1	0	0	A	6022650	G	A	6022650	3	1	81	1	0	0	0	0	1	0	0	0	9082	942	33	2	985	2	LRRN4	20	6022650	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	469	6022650	57002870	14107	17723											
LRRN4	164312	broad.mit.edu	37	20	6022760	6022760	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:6022760G>T	ENST00000378858.4	-	5	1355	c.1131C>A	c.(1129-1131)tgC>tgA	p.C377*		NM_152611.4	NP_689824.2	Q8WUT4	LRRN4_HUMAN	leucine rich repeat neuronal 4	377						integral to membrane				breast(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	27						AGCGGTTGAAGCAAGGTGGGT	0.677													20	38					8.04996e-18	1.041e-17	1	1	0	T	6022760	G	T	6022760	4	4	81	1	0	0	0	0	0	1	0	0	9082	963	34	4	1095	4	LRRN4	20	6022760	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	110	6022760	57002760	14108	17724											
LRRN4	164312	broad.mit.edu	37	20	6031520	6031520	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:6031520C>T	ENST00000378858.4	-	3	989	c.765G>A	c.(763-765)ctG>ctA	p.L255L		NM_152611.4	NP_689824.2	Q8WUT4	LRRN4_HUMAN	leucine rich repeat neuronal 4	255						integral to membrane				breast(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	27						CCAGCTGCTGCAGGTTGGGGG	0.547													29	44					0	0	1	0	0	T	6031520	C	T	6031520	2	4	81	1	0	0	0	0	0	0	0	1	9082	697	25	2		2	LRRN4	20	6031520	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	8760	6031520	56994000	14109	17725											
FERMT1	55612	broad.mit.edu	37	20	6065807	6065807	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:6065807G>T	ENST00000217289.4	-	12	2287	c.1499C>A	c.(1498-1500)tCt>tAt	p.S500Y	FERMT1_ENST00000536936.1_Missense_Mutation_p.S243Y|FERMT1_ENST00000478194.1_5'UTR	NM_017671.4	NP_060141.3	Q9BQL6	FERM1_HUMAN	fermitin family member 1	500	FERM.				cell adhesion|establishment of epithelial cell polarity|keratinocyte migration|keratinocyte proliferation	cytosol|focal adhesion|ruffle membrane	binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	17						CTGAGATGCAGAGTTCCTGTT	0.478													5	97					0.000602214	0.000646338	1	1	0	T	6065807	G	T	6065807	3	4	81	1	0	0	0	0	1	0	0	0	5850	942	33	4	550	4	FERMT1	20	6065807	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	34287	6065807	56959713	14110	17726											
FERMT1	55612	broad.mit.edu	37	20	6068529	6068529	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:6068529G>A	ENST00000217289.4	-	11	2054	c.1266C>T	c.(1264-1266)ggC>ggT	p.G422G	FERMT1_ENST00000536936.1_Splice_Site_p.G165G|FERMT1_ENST00000478194.1_5'UTR	NM_017671.4	NP_060141.3	Q9BQL6	FERM1_HUMAN	fermitin family member 1	422	FERM.|PH.				cell adhesion|establishment of epithelial cell polarity|keratinocyte migration|keratinocyte proliferation	cytosol|focal adhesion|ruffle membrane	binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	17						CAACTTCGCAGCCTGAAGGAC	0.398													33	56					0	0	1	0	0	A	6068529	G	A	6068529	5	1	81	1	0	0	0	0	0	0	1	0	5850	985	34	2	787	2	FERMT1	20	6068529	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2722	6068529	56956991	14111	17727											
FERMT1	55612	broad.mit.edu	37	20	6096604	6096604	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:6096604T>C	ENST00000217289.4	-	3	1027	c.239A>G	c.(238-240)tAt>tGt	p.Y80C	FERMT1_ENST00000536936.1_De_novo_Start_InFrame	NM_017671.4	NP_060141.3	Q9BQL6	FERM1_HUMAN	fermitin family member 1	80					cell adhesion|establishment of epithelial cell polarity|keratinocyte migration|keratinocyte proliferation	cytosol|focal adhesion|ruffle membrane	binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	17						CTGGACCCCATATTTGTCCAG	0.488													33	41					0	0	1	0	0	C	6096604	T	C	6096604	3	2	81	1	0	0	0	0	1	0	0	0	5850	1406	49	3	1846	3	FERMT1	20	6096604	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	28075	6096604	56928916	14112	17728											
TMX4	56255	broad.mit.edu	37	20	7980487	7980487	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:7980487C>T	ENST00000246024.2	-	4	574	c.359G>A	c.(358-360)cGc>cAc	p.R120H	TMX4_ENST00000530935.1_5'UTR	NM_021156.2	NP_066979.2	Q9H1E5	TMX4_HUMAN	thioredoxin-related transmembrane protein 4	120	Thioredoxin.				cell redox homeostasis|electron transport chain|transport	integral to membrane				endometrium(3)|large_intestine(2)|lung(11)|skin(1)	17						ACGATAACGGCGGAATATCCC	0.388													20	40					0	0	1	0	0	T	7980487	C	T	7980487	3	4	81	1	0	0	0	0	1	0	0	0	16329	768	27	1	710	1	TMX4	20	7980487	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1883883	7980487	55045033	14113	17729											
PLCB4	5332	broad.mit.edu	37	20	9319618	9319618	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:9319618C>T	ENST00000378501.2	+	4	318	c.303C>T	c.(301-303)tgC>tgT	p.C101C	PLCB4_ENST00000278655.4_Silent_p.C101C|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000414679.2_Silent_p.C101C|PLCB4_ENST00000334005.3_Silent_p.C101C|PLCB4_ENST00000378473.3_Silent_p.C101C|PLCB4_ENST00000378493.1_Silent_p.C101C	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN	phospholipase C, beta 4	101					intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						TTTGTGTCTGCAGTGGCACAG	0.433													5	84					0	0	1	0	0	T	9319618	C	T	9319618	2	4	81	1	0	0	0	0	0	0	0	1	12078	718	25	2		2	PLCB4	20	9319618	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1339131	9319618	53705902	14114	17730											
PLCB4	5332	broad.mit.edu	37	20	9424888	9424888	+	Nonsense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:9424888A>T	ENST00000378501.2	+	28	2857	c.2842A>T	c.(2842-2844)Aag>Tag	p.K948*	PLCB4_ENST00000278655.4_Nonsense_Mutation_p.K948*|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000414679.2_Nonsense_Mutation_p.K960*|PLCB4_ENST00000334005.3_Nonsense_Mutation_p.K948*|PLCB4_ENST00000378473.3_Nonsense_Mutation_p.K960*|PLCB4_ENST00000378493.1_Nonsense_Mutation_p.K948*	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN	phospholipase C, beta 4	948					intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						GAAACATGCAAAGGTACAGTG	0.338													7	48					0	0	1	0	0	T	9424888	A	T	9424888	4	4	81	1	0	0	0	0	0	1	0	0	12078	15	1	5	2992	5	PLCB4	20	9424888	Nonsense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	105270	9424888	53600632	14115	17731											
PAK7	57144	broad.mit.edu	37	20	9525092	9525092	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:9525092G>A	ENST00000378429.3	-	9	2339	c.1793C>T	c.(1792-1794)cCg>cTg	p.P598L	PAK7_ENST00000378423.1_Missense_Mutation_p.P598L|PAK7_ENST00000353224.5_Missense_Mutation_p.P598L	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	598	Protein kinase.						ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			TTTCCTCTTCGGCACCTCTTT	0.448													11	85					0	0	1	0	0	A	9525092	G	A	9525092	3	1	81	1	0	0	0	0	1	0	0	0	11452	1116	39	1	378	1	PAK7	20	9525092	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	100204	9525092	53500428	14116	17732											
PAK7	57144	broad.mit.edu	37	20	9560823	9560823	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:9560823C>T	ENST00000378429.3	-	5	1505	c.959G>A	c.(958-960)cGc>cAc	p.R320H	PAK7_ENST00000378423.1_Missense_Mutation_p.R320H|PAK7_ENST00000353224.5_Missense_Mutation_p.R320H	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	320	Linker.						ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			CTCGGACAAGCGAGGGTAGGT	0.537													9	131					0	0	1	0	0	T	9560823	C	T	9560823	3	4	81	1	0	0	0	0	1	0	0	0	11452	768	27	1	1228	1	PAK7	20	9560823	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	35731	9560823	53464697	14117	17733											
SNAP25	6616	broad.mit.edu	37	20	10273855	10273855	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:10273855C>T	ENST00000254976.2	+	5	421	c.210C>T	c.(208-210)gaC>gaT	p.D70D	SNAP25-AS1_ENST00000421143.2_RNA|SNAP25-AS1_ENST00000453544.1_RNA|SNAP25_ENST00000304886.2_Intron	NM_130811.2	NP_570824.1	P60880	SNP25_HUMAN	synaptosomal-associated protein, 25kDa	70	Interaction with CENPF (By similarity).|t-SNARE coiled-coil homology 1.				energy reserve metabolic process|glutamate secretion|neurotransmitter uptake|synaptic vesicle docking involved in exocytosis	cell junction|growth cone|perinuclear region of cytoplasm|synapse|synaptosome				endometrium(1)|large_intestine(2)|lung(8)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	18					Botulinum Toxin Type A(DB00083)	TCAATAAGGACATGAAAGAAG	0.438													9	95					0	0	1	0	0	T	10273855	C	T	10273855	2	4	81	1	0	0	0	0	0	0	0	1	14884	477	17	2		2	SNAP25	20	10273855	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	713032	10273855	52751665	14118	17734											
JAG1	182	broad.mit.edu	37	20	10625533	10625533	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:10625533C>T	ENST00000254958.5	-	18	2837	c.2322G>A	c.(2320-2322)tgG>tgA	p.W774*	JAG1_ENST00000423891.2_Nonsense_Mutation_p.W615*	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN	jagged 1	774	EGF-like 14.				angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation	extracellular region|integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding|structural molecule activity			biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						TGGGCCCCTCCCAGCCTTCCT	0.587									Alagille Syndrome				10	140					0	0	1	0	0	T	10625533	C	T	10625533	4	4	81	1	0	0	0	0	0	1	0	0	7978	624	22	2	1370	2	JAG1	20	10625533	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	351678	10625533	52399987	14119	17735											
JAG1	182	broad.mit.edu	37	20	10625555	10625555	+	Missense_Mutation	SNP	G	G	A	rs140330283	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:10625555G>A	ENST00000254958.5	-	18	2815	c.2300C>T	c.(2299-2301)aCg>aTg	p.T767M	JAG1_ENST00000423891.2_Missense_Mutation_p.T608M	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN	jagged 1	767	EGF-like 14.				angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation	extracellular region|integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding|structural molecule activity			biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						GCAGACGCACGTAAAGGACTC	0.592									Alagille Syndrome				73	117					0	0	1	0	0	A	10625555	G	A	10625555	3	1	81	1	0	0	0	0	1	0	0	0	7978	1145	40	1	1392	1	JAG1	20	10625555	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	22	10625555	52399965	14120	17736											
JAG1	182	broad.mit.edu	37	20	10628720	10628720	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:10628720G>A	ENST00000254958.5	-	13	2123	c.1608C>T	c.(1606-1608)aaC>aaT	p.N536N	JAG1_ENST00000423891.2_Silent_p.N377N	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN	jagged 1	536	EGF-like 9.				angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation	extracellular region|integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding|structural molecule activity			biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						ACTGGGCACCGTTCTGGCAGG	0.517									Alagille Syndrome				14	32					0	0	1	0	0	A	10628720	G	A	10628720	2	1	81	1	0	0	0	0	0	0	0	1	7978	1136	40	1		1	JAG1	20	10628720	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	3165	10628720	52396800	14121	17737											
JAG1	182	broad.mit.edu	37	20	10639258	10639258	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:10639258G>A	ENST00000254958.5	-	4	1067	c.552C>T	c.(550-552)cgC>cgT	p.R184R	JAG1_ENST00000423891.2_Silent_p.R25R	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN	jagged 1	184			R -> C (in ALGS1).|R -> G (in ALGS1).|R -> H (in ALGS1).|R -> L (in ALGS1).		angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation	extracellular region|integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding|structural molecule activity			biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						CACAGGTCACGCGGATCTGAT	0.522									Alagille Syndrome				30	47					0	0	1	0	0	A	10639258	G	A	10639258	2	1	81	1	0	0	0	0	0	0	0	1	7978	1074	38	1		1	JAG1	20	10639258	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	10538	10639258	52386262	14122	17738											
SPTLC3	55304	broad.mit.edu	37	20	13098296	13098296	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:13098296C>T	ENST00000399002.2	+	8	1350	c.1076C>T	c.(1075-1077)cCt>cTt	p.P359L	SPTLC3_ENST00000378194.4_Intron	NM_018327.2	NP_060797.2	Q9NUV7	SPTC3_HUMAN	serine palmitoyltransferase, long chain base subunit 3	359					sphingoid biosynthetic process	integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups			breast(1)|endometrium(1)|large_intestine(7)|lung(14)|skin(1)|urinary_tract(1)	25					Pyridoxal Phosphate(DB00114)	GGACTAGACCCTCATGAAGTT	0.502													33	59					0	0	1	0	0	T	13098296	C	T	13098296	3	4	81	1	0	0	0	0	1	0	0	0	15181	681	24	2	1106	2	SPTLC3	20	13098296	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2459038	13098296	49927224	14123	17739											
TASP1	55617	broad.mit.edu	37	20	13514789	13514789	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:13514789C>T	ENST00000337743.4	-	9	796		c.e9-1		TASP1_ENST00000539805.1_Intron|TASP1_ENST00000480436.1_Splice_Site	NM_017714.2	NP_060184.2	Q9H6P5	TASP1_HUMAN	taspase, threonine aspartase, 1						asparagine catabolic process via L-aspartate|positive regulation of transcription, DNA-dependent|protein maturation		threonine-type endopeptidase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(11)|liver(1)|lung(11)|stomach(2)|urinary_tract(2)	31						AGTCATTTTCCTGCAGAGCAA	0.478													9	64					0	0	1	0	0	T	13514789	C	T	13514789	5	4	81	1	0	0	0	0	0	0	1	0	15646	695	24	2	611	2	TASP1	20	13514789	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	416493	13514789	49510731	14124	17740											
ESF1	51575	broad.mit.edu	37	20	13763274	13763275	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:13763274_13763275insT	ENST00000202816.1	-	2	619_620	c.512_513insA	c.(511-513)aacfs	p.N171fs		NM_001276380.1|NM_016649.3	NP_001263309.1|NP_057733.2	Q9H501	ESF1_HUMAN	ESF1, nucleolar pre-rRNA processing protein, homolog (S. cerevisiae)	171					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|nucleoplasm		p.N171fs*18(1)		endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|skin(1)|stomach(1)	31						GTTGAACAATGTTTTTTTTCTC	0.317													7	46	---	---	---	---						T	13763275	-	T	13763274	7	5	81	1	0	1	1	0	0	0	0	0	5279	1368	48	0	2094	0	ESF1	20	13763274	Frame_Shift_Ins	INS	-	TCGA-DU-6392-01A-11D-1705-08	248485	13763274	49262246	14125	17741											
SEL1L2	80343	broad.mit.edu	37	20	13868588	13868588	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:13868588C>A	ENST00000284951.5	-	7	737	c.663G>T	c.(661-663)ttG>ttT	p.L221F	SEL1L2_ENST00000486903.1_5'UTR|SEL1L2_ENST00000378072.5_Splice_Site_p.L221F			Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 (C. elegans)	221						integral to membrane	binding	p.L221L(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						GTTTACAAACCAAAATCATCT	0.358													7	52					0.00307968	0.00324365	1	1	0	A	13868588	C	A	13868588	5	1	81	1	0	0	0	0	0	0	1	0	14065	608	21	5	1459	5	SEL1L2	20	13868588	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	105314	13868588	49156932	14126	17742											
MACROD2	140733	broad.mit.edu	37	20	15210598	15210598	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:15210598C>A	ENST00000217246.4	+	6	826	c.431C>A	c.(430-432)aCt>aAt	p.T144N	MACROD2_ENST00000402914.1_5'UTR|MACROD2_ENST00000310348.4_Missense_Mutation_p.T144N	NM_080676.5	NP_542407.2	A1Z1Q3	MACD2_HUMAN	MACRO domain containing 2	144	Macro.									breast(2)|kidney(4)|large_intestine(5)|lung(8)|skin(1)	20		all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175)				GTCATCCATACTGTAGGGCCA	0.338													3	48					0.115264	0.117126	1	1	0	A	15210598	C	A	15210598	3	1	81	1	0	0	0	0	1	0	0	0	9192	565	20	4	453	4	MACROD2	20	15210598	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1342010	15210598	47814922	14127	17743											
MACROD2	140733	broad.mit.edu	37	20	15948229	15948229	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:15948229C>T	ENST00000217246.4	+	13	1334	c.939C>T	c.(937-939)ggC>ggT	p.G313G	MACROD2_ENST00000402914.1_Silent_p.G78G|MACROD2_ENST00000378058.3_Silent_p.G78G|MACROD2_ENST00000310348.4_Silent_p.G313G	NM_080676.5	NP_542407.2	A1Z1Q3	MACD2_HUMAN	MACRO domain containing 2	313	Glu-rich.									breast(2)|kidney(4)|large_intestine(5)|lung(8)|skin(1)	20		all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175)				TTACAAAAGGCGGTGAAGTGA	0.378													28	45					0	0	1	0	0	T	15948229	C	T	15948229	2	4	81	1	0	0	0	0	0	0	0	1	9192	755	27	1		1	MACROD2	20	15948229	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	737631	15948229	47077291	14128	17744											
KIF16B	55614	broad.mit.edu	37	20	16385459	16385459	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:16385459C>T	ENST00000354981.2	-	17	1940	c.1783G>A	c.(1783-1785)Gga>Aga	p.G595R	KIF16B_ENST00000355755.3_Splice_Site_p.G595R|KIF16B_ENST00000408042.1_Splice_Site_p.G595R|KIF16B_ENST00000378003.2_5'UTR	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	595					cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						TTCACTCACCCGGGGTTATAC	0.473													4	25					0	0	1	0	0	T	16385459	C	T	16385459	5	4	81	1	0	0	0	0	0	0	1	0	8320	666	23	1	2210	1	KIF16B	20	16385459	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	437230	16385459	46640061	14129	17745											
KIF16B	55614	broad.mit.edu	37	20	16486802	16486802	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:16486802C>T	ENST00000354981.2	-	8	890	c.733G>A	c.(733-735)Gtc>Atc	p.V245I	KIF16B_ENST00000355755.3_Missense_Mutation_p.V245I|KIF16B_ENST00000408042.1_Missense_Mutation_p.V245I|KIF16B_ENST00000378003.2_5'UTR	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	245	Kinesin-motor.				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						ATCTTACTGACGGTTTCACAT	0.438													44	109					0	0	1	0	0	T	16486802	C	T	16486802	3	4	81	1	0	0	0	0	1	0	0	0	8320	536	19	1	3296	1	KIF16B	20	16486802	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	101343	16486802	46538718	14130	17746											
BFSP1	631	broad.mit.edu	37	20	17474837	17474837	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:17474837G>T	ENST00000377873.3	-	8	1919	c.1880C>A	c.(1879-1881)tCt>tAt	p.S627Y	BFSP1_ENST00000544874.1_Missense_Mutation_p.S488Y|BFSP1_ENST00000536626.1_Missense_Mutation_p.S488Y|BFSP1_ENST00000377868.2_Missense_Mutation_p.S502Y	NM_001195.3	NP_001186.1	Q12934	BFSP1_HUMAN	beaded filament structural protein 1, filensin	627	Tail.					cytoplasm|intermediate filament|membrane	structural constituent of cytoskeleton|structural constituent of eye lens			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)|stomach(1)	18						CTTCTCGATAGATTCCACCAC	0.483													52	90					2.69774e-35	3.61321e-35	1	1	0	T	17474837	G	T	17474837	3	4	81	1	0	0	0	0	1	0	0	0	1414	942	33	4	121	4	BFSP1	20	17474837	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	988035	17474837	45550683	14131	17747											
BFSP1	631	broad.mit.edu	37	20	17475209	17475209	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:17475209G>T	ENST00000377873.3	-	8	1547	c.1508C>A	c.(1507-1509)tCt>tAt	p.S503Y	BFSP1_ENST00000544874.1_Missense_Mutation_p.S364Y|BFSP1_ENST00000536626.1_Missense_Mutation_p.S364Y|BFSP1_ENST00000377868.2_Missense_Mutation_p.S378Y	NM_001195.3	NP_001186.1	Q12934	BFSP1_HUMAN	beaded filament structural protein 1, filensin	503	Tail.					cytoplasm|intermediate filament|membrane	structural constituent of cytoskeleton|structural constituent of eye lens			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)|stomach(1)	18						ATAAAGCACAGAGTCTTCCGC	0.547													14	17					6.31663e-08	7.44777e-08	1	1	0	T	17475209	G	T	17475209	3	4	81	1	0	0	0	0	1	0	0	0	1414	942	33	4	493	4	BFSP1	20	17475209	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	372	17475209	45550311	14132	17748											
BFSP1	631	broad.mit.edu	37	20	17475552	17475552	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:17475552C>T	ENST00000377873.3	-	8	1204	c.1165G>A	c.(1165-1167)Gca>Aca	p.A389T	BFSP1_ENST00000544874.1_Missense_Mutation_p.A250T|BFSP1_ENST00000536626.1_Missense_Mutation_p.A250T|BFSP1_ENST00000377868.2_Missense_Mutation_p.A264T	NM_001195.3	NP_001186.1	Q12934	BFSP1_HUMAN	beaded filament structural protein 1, filensin	389	Tail.					cytoplasm|intermediate filament|membrane	structural constituent of cytoskeleton|structural constituent of eye lens			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)|stomach(1)	18						TTTAATGGTGCATCTTCCAGA	0.393													58	97					0	0	1	0	0	T	17475552	C	T	17475552	3	4	81	1	0	0	0	0	1	0	0	0	1414	710	25	2	836	2	BFSP1	20	17475552	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	343	17475552	45549968	14133	17749											
BFSP1	631	broad.mit.edu	37	20	17505504	17505504	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:17505504G>A	ENST00000377873.3	-	2	466	c.427C>T	c.(427-429)Cgg>Tgg	p.R143W	BFSP1_ENST00000544874.1_Missense_Mutation_p.R4W|BFSP1_ENST00000536626.1_Missense_Mutation_p.R4W|BFSP1_ENST00000377868.2_Missense_Mutation_p.R18W|BFSP1_ENST00000473415.1_5'UTR	NM_001195.3	NP_001186.1	Q12934	BFSP1_HUMAN	beaded filament structural protein 1, filensin	143	Coil 1B.|Rod.					cytoplasm|intermediate filament|membrane	structural constituent of cytoskeleton|structural constituent of eye lens			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)|stomach(1)	18						TTGTTAAGCCGTTCAAGCATT	0.423													46	77					0	0	1	0	0	A	17505504	G	A	17505504	3	1	81	1	0	0	0	0	1	0	0	0	1414	1144	40	1	1598	1	BFSP1	20	17505504	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	29952	17505504	45520016	14134	17750											
DSTN	11034	broad.mit.edu	37	20	17587726	17587726	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:17587726C>T	ENST00000246069.7	+	4	779	c.433C>T	c.(433-435)Cgg>Tgg	p.R145W	DSTN_ENST00000474024.1_Missense_Mutation_p.R128W	NM_006870.3	NP_006861.1	P60981	DEST_HUMAN	destrin (actin depolymerizing factor)		ADF-H.				actin filament severing|actin polymerization or depolymerization		actin binding			endometrium(1)|large_intestine(5)|lung(8)|skin(1)	15						AGATCTCAATCGGGCTTGTAT	0.383													37	56					0	0	1	0	0	T	17587726	C	T	17587726	3	4	81	1	0	0	0	0	1	0	0	0	4810	875	31	1	447	1	DSTN	20	17587726	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	82222	17587726	45437794	14135	17751											
RRBP1	6238	broad.mit.edu	37	20	17608171	17608171	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:17608171G>A	ENST00000377813.1	-	10	3209	c.2906C>T	c.(2905-2907)gCg>gTg	p.A969V	RRBP1_ENST00000455029.2_Missense_Mutation_p.A310V|RRBP1_ENST00000360807.4_Missense_Mutation_p.A536V|RRBP1_ENST00000377807.2_Missense_Mutation_p.A536V|RRBP1_ENST00000246043.4_Missense_Mutation_p.A969V			Q9P2E9	RRBP1_HUMAN	ribosome binding protein 1	969					protein transport|translation|transmembrane transport	integral to endoplasmic reticulum membrane|ribosome	receptor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(6)	28						GGCATCCCGCGCCTGGCCCGC	0.672													26	24					0	0	1	0	0	A	17608171	G	A	17608171	3	1	81	1	0	0	0	0	1	0	0	0	13730	1087	38	1	1390	1	RRBP1	20	17608171	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	20445	17608171	45417349	14136	17752											
SNX5	27131	broad.mit.edu	37	20	17929569	17929569	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:17929569G>T	ENST00000377768.3	-	11	1195	c.883C>A	c.(883-885)Ctc>Atc	p.L295I	SNX5_ENST00000377759.4_Missense_Mutation_p.L295I|SNX5_ENST00000483485.1_5'UTR	NM_152227.1	NP_689413.1	Q9Y5X3	SNX5_HUMAN	sorting nexin 5	295	BAR.				cell communication|pinocytosis|protein transport	cytoplasmic vesicle membrane|early endosome membrane|extrinsic to endosome membrane|extrinsic to internal side of plasma membrane|macropinocytic cup|phagocytic cup|ruffle	phosphatidylinositol binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	11						TAGTATCGGAGGAGCTCTGTT	0.413													20	53					3.62473e-10	4.42231e-10	1	1	0	T	17929569	G	T	17929569	3	4	81	1	0	0	0	0	1	0	0	0	14959	1000	35	4	347	4	SNX5	20	17929569	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	321398	17929569	45095951	14137	17753											
OVOL2	58495	broad.mit.edu	37	20	18005549	18005549	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:18005549G>A	ENST00000278780.6	-	4	801	c.559C>T	c.(559-561)Cgc>Tgc	p.R187C	OVOL2_ENST00000483661.1_5'UTR	NM_021220.2	NP_067043.2	Q9BRP0	OVOL2_HUMAN	ovo-like zinc finger 2	187					negative regulation of keratinocyte differentiation|negative regulation of Notch signaling pathway|negative regulation of transcription by competitive promoter binding|regulation of cell cycle|regulation of keratinocyte proliferation|transcription, DNA-dependent	nucleus	DNA binding|transcription regulatory region DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(3)	6						AGAGAGCAGCGCTGGGTGAAG	0.552													9	56					0	0	1	0	0	A	18005549	G	A	18005549	3	1	81	1	0	0	0	0	1	0	0	0	11374	1087	38	1	272	1	OVOL2	20	18005549	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	75980	18005549	45019971	14138	17754											
SLC24A3	57419	broad.mit.edu	37	20	19665995	19665995	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:19665995C>T	ENST00000328041.6	+	12	1511	c.1314C>T	c.(1312-1314)ttC>ttT	p.F438F		NM_020689.3	NP_065740.2	Q9HC58	NCKX3_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 3	438						integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						ACACACCATTCGACACCCCCT	0.468													30	49					0	0	1	0	0	T	19665995	C	T	19665995	2	4	81	1	0	0	0	0	0	0	0	1	14522	883	31	1		1	SLC24A3	20	19665995	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1660446	19665995	43359525	14139	17755											
RIN2	54453	broad.mit.edu	37	20	19951529	19951529	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:19951529C>T	ENST00000255006.6	+	7	880	c.731C>T	c.(730-732)gCc>gTc	p.A244V	RIN2_ENST00000484638.1_3'UTR|RIN2_ENST00000440354.2_Intron	NM_001242581.1|NM_018993.3	NP_001229510.1|NP_061866.1	Q8WYP3	RIN2_HUMAN	Ras and Rab interactor 2	195					endocytosis|small GTPase mediated signal transduction	cytoplasm	GTPase activator activity|Rab guanyl-nucleotide exchange factor activity			autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	27						ATTTCAACAGCCAAGTCGGAG	0.438													7	20					0	0	1	0	0	T	19951529	C	T	19951529	3	4	81	1	0	0	0	0	1	0	0	0	13424	739	26	2	606	2	RIN2	20	19951529	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	285534	19951529	43073991	14140	17756											
CRNKL1	51340	broad.mit.edu	37	20	20023022	20023022	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:20023022G>A	ENST00000377340.2	-	9	1625	c.1594C>T	c.(1594-1596)Cgc>Tgc	p.R532C	CRNKL1_ENST00000377327.4_Missense_Mutation_p.R520C|CRNKL1_ENST00000536226.1_Missense_Mutation_p.R371C	NM_001278628.1|NM_016652.4	NP_001265557.1|NP_057736.4	Q9BZJ0	CRNL1_HUMAN	crooked neck pre-mRNA splicing factor 1	532					spliceosome assembly	catalytic step 2 spliceosome|cytoplasm|nuclear speck	RNA binding			breast(2)|cervix(2)|endometrium(7)|large_intestine(11)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(6)	45						TAAATGTAGCGCTTCCAGTGC	0.453													44	65					0	0	1	0	0	A	20023022	G	A	20023022	3	1	81	1	0	0	0	0	1	0	0	0	3914	1087	38	1	980	1	CRNKL1	20	20023022	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	71493	20023022	43002498	14141	17757											
CRNKL1	51340	broad.mit.edu	37	20	20030056	20030056	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:20030056C>A	ENST00000377340.2	-	4	738	c.707G>T	c.(706-708)aGa>aTa	p.R236I	CRNKL1_ENST00000377327.4_Missense_Mutation_p.R224I|CRNKL1_ENST00000536226.1_Missense_Mutation_p.R75I	NM_001278628.1|NM_016652.4	NP_001265557.1|NP_057736.4	Q9BZJ0	CRNL1_HUMAN	crooked neck pre-mRNA splicing factor 1	236					spliceosome assembly	catalytic step 2 spliceosome|cytoplasm|nuclear speck	RNA binding			breast(2)|cervix(2)|endometrium(7)|large_intestine(11)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(6)	45						CCTGTTTTTTCTTATATTATC	0.343													13	22					4.36969e-10	5.3233e-10	1	1	0	A	20030056	C	A	20030056	3	1	81	1	0	0	0	0	1	0	0	0	3914	913	32	4	1887	4	CRNKL1	20	20030056	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	7034	20030056	42995464	14142	17758											
CRNKL1	51340	broad.mit.edu	37	20	20036606	20036606	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:20036606G>T	ENST00000377340.2	-	1	84	c.53C>A	c.(52-54)gCt>gAt	p.A18D	C20orf26_ENST00000377309.2_Intron|CRNKL1_ENST00000377327.4_Missense_Mutation_p.A18D|C20orf26_ENST00000389656.3_Intron|C20orf26_ENST00000377306.1_Intron|C20orf26_ENST00000245957.5_Intron	NM_001278628.1|NM_016652.4	NP_001265557.1|NP_057736.4	Q9BZJ0	CRNL1_HUMAN	crooked neck pre-mRNA splicing factor 1	18					spliceosome assembly	catalytic step 2 spliceosome|cytoplasm|nuclear speck	RNA binding			breast(2)|cervix(2)|endometrium(7)|large_intestine(11)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(6)	45						TTTGTCAAcagcatttcccaa	0.418													46	67					1.48734e-19	1.93749e-19	1	1	0	T	20036606	G	T	20036606	3	4	81	1	0	0	0	0	1	0	0	0	3914	971	34	4	2553	4	CRNKL1	20	20036606	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	6550	20036606	42988914	14143	17759											
C20orf26	26074	broad.mit.edu	37	20	20180469	20180469	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:20180469C>T	ENST00000245957.5	+	17	1931	c.1855C>T	c.(1855-1857)Cga>Tga	p.R619*	C20orf26_ENST00000377309.2_5'UTR|C20orf26_ENST00000389656.3_5'UTR	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN	chromosome 20 open reading frame 26	619								p.R619R(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		GGTTCCCGTGCGACCACGACG	0.532													8	118					0	0	1	0	0	T	20180469	C	T	20180469	4	4	81	1	0	0	0	0	0	1	0	0	2120	760	27	1	1949	1	C20orf26	20	20180469	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	143863	20180469	42845051	14144	17760											
RALGAPA2	57186	broad.mit.edu	37	20	20501713	20501713	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:20501713G>A	ENST00000202677.7	-	31	3939	c.3932C>T	c.(3931-3933)aCg>aTg	p.T1311M		NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN	Ral GTPase activating protein, alpha subunit 2 (catalytic)						activation of Ral GTPase activity	cytosol|nucleus	protein heterodimerization activity|Ral GTPase activator activity			endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						TTGGGTGTACGTGCTTGAGCC	0.527													40	61					0	0	1	0	0	A	20501713	G	A	20501713	3	1	81	1	0	0	0	0	1	0	0	0	13066	1145	40	1	1725	1	RALGAPA2	20	20501713	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	321244	20501713	42523807	14145	17761											
RALGAPA2	57186	broad.mit.edu	37	20	20661389	20661389	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:20661389A>G	ENST00000202677.7	-	2	170	c.163T>C	c.(163-165)Tat>Cat	p.Y55H		NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN	Ral GTPase activating protein, alpha subunit 2 (catalytic)						activation of Ral GTPase activity	cytosol|nucleus	protein heterodimerization activity|Ral GTPase activator activity			endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						AAGATGAAATATATCTGAGAA	0.259													3	7					0	0	1	0	0	G	20661389	A	G	20661389	3	3	81	1	0	0	0	0	1	0	0	0	13066	449	16	3	5610	3	RALGAPA2	20	20661389	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	159676	20661389	42364131	14146	17762											
XRN2	22803	broad.mit.edu	37	20	21327052	21327052	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:21327052G>T	ENST00000377191.3	+	17	1624		c.e17-1		XRN2_ENST00000430571.2_Splice_Site|XRN2_ENST00000539513.1_Splice_Site	NM_012255.3	NP_036387.2	Q9H0D6	XRN2_HUMAN	5'-3' exoribonuclease 2						cell growth|DNA catabolic process, exonucleolytic|mRNA processing|regulation of transcription, DNA-dependent|RNA catabolic process|spermatogenesis|transcription termination, DNA-dependent	nucleolus	5'-3' exoribonuclease activity|nucleic acid binding|protein binding|zinc ion binding			endometrium(5)|kidney(6)|large_intestine(10)|lung(12)|ovary(1)|skin(5)	39						CCTGGTTTTAGGTTATGGGAA	0.418													14	99					0.000151284	0.000165917	1	1	0	T	21327052	G	T	21327052	5	4	81	1	0	0	0	0	0	0	1	0	17520	1014	35	4	1595	4	XRN2	20	21327052	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	665663	21327052	41698468	14147	17763											
XRN2	22803	broad.mit.edu	37	20	21367644	21367644	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:21367644G>T	ENST00000377191.3	+	29	2882	c.2787G>T	c.(2785-2787)caG>caT	p.Q929H	XRN2_ENST00000430571.2_Splice_Site_p.Q853H|XRN2_ENST00000539513.1_Splice_Site_p.Q875H	NM_012255.3	NP_036387.2	Q9H0D6	XRN2_HUMAN	5'-3' exoribonuclease 2	929					cell growth|DNA catabolic process, exonucleolytic|mRNA processing|regulation of transcription, DNA-dependent|RNA catabolic process|spermatogenesis|transcription termination, DNA-dependent	nucleolus	5'-3' exoribonuclease activity|nucleic acid binding|protein binding|zinc ion binding			endometrium(5)|kidney(6)|large_intestine(10)|lung(12)|ovary(1)|skin(5)	39						GAGGGAGACAGGTAAATGGTT	0.483													25	40					1.2476e-16	1.60284e-16	1	1	0	T	21367644	G	T	21367644	5	4	81	1	0	0	0	0	0	0	1	0	17520	1014	35	4	2901	4	XRN2	20	21367644	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	40592	21367644	41657876	14148	17764											
NKX2-2	4821	broad.mit.edu	37	20	21494286	21494286	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:21494286T>C	ENST00000377142.4	-	1	378	c.22A>G	c.(22-24)Acg>Gcg	p.T8A		NM_002509.3	NP_002500.1	O95096	NKX22_HUMAN	NK2 homeobox 2	8					brain development|positive regulation of sequence-specific DNA binding transcription factor activity	nucleus	chromatin binding|core promoter proximal region DNA binding|transcription coactivator activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						GAAAACCCCGTCTTTGTGTTG	0.587													4	54					0	0	1	0	0	C	21494286	T	C	21494286	3	2	81	1	0	0	0	0	1	0	0	0	10497	1667	58	3	807	3	NKX2-2	20	21494286	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	126642	21494286	41531234	14149	17765											
SSTR4	6754	broad.mit.edu	37	20	23016403	23016403	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:23016403C>A	ENST00000255008.3	+	1	347	c.283C>A	c.(283-285)Ctc>Atc	p.L95I	RP4-753D10.3_ENST00000440921.1_RNA	NM_001052.2	NP_001043.2	P31391	SSR4_HUMAN	somatostatin receptor 4	95					G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	32	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)					AGCCGACGAGCTCTTCATGCT	0.657													8	104					0.00307968	0.00324365	1	1	0	A	23016403	C	A	23016403	3	1	81	1	0	0	0	0	1	0	0	0	15256	797	28	4	285	4	SSTR4	20	23016403	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1522117	23016403	40009117	14150	17766											
SSTR4	6754	broad.mit.edu	37	20	23016577	23016577	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:23016577C>T	ENST00000255008.3	+	1	521	c.457C>T	c.(457-459)Cgc>Tgc	p.R153C	RP4-753D10.3_ENST00000440921.1_RNA	NM_001052.2	NP_001043.2	P31391	SSR4_HUMAN	somatostatin receptor 4	153					G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	32	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)					GCACCCTCTGCGCGCGGCGAC	0.667													21	27					0	0	1	0	0	T	23016577	C	T	23016577	3	4	81	1	0	0	0	0	1	0	0	0	15256	768	27	1	459	1	SSTR4	20	23016577	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	174	23016577	40008943	14151	17767											
CD93	22918	broad.mit.edu	37	20	23065073	23065073	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:23065073A>G	ENST00000246006.4	-	1	1904	c.1757T>C	c.(1756-1758)aTc>aCc	p.I586T		NM_012072.3	NP_036204.2	Q9NPY3	C1QR1_HUMAN	CD93 molecule	586					cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding			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)					GGTGCCTAGGATGTAGAATAA	0.597													29	103					0	0	1	0	0	G	23065073	A	G	23065073	3	3	81	1	0	0	0	0	1	0	0	0	3069	333	12	3	209	3	CD93	20	23065073	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	48496	23065073	39960447	14152	17768											
CD93	22918	broad.mit.edu	37	20	23065232	23065232	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:23065232T>C	ENST00000246006.4	-	1	1745	c.1598A>G	c.(1597-1599)aAg>aGg	p.K533R		NM_012072.3	NP_036204.2	Q9NPY3	C1QR1_HUMAN	CD93 molecule	533					cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding			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)					GGCCAGCATCTTGAGTGGGGC	0.672													31	47					0	0	1	0	0	C	23065232	T	C	23065232	3	2	81	1	0	0	0	0	1	0	0	0	3069	1609	56	3	368	3	CD93	20	23065232	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	159	23065232	39960288	14153	17769											
CD93	22918	broad.mit.edu	37	20	23065850	23065850	+	Missense_Mutation	SNP	G	G	A	rs144280933		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:23065850G>A	ENST00000246006.4	-	1	1127	c.980C>T	c.(979-981)aCg>aTg	p.T327M		NM_012072.3	NP_036204.2	Q9NPY3	C1QR1_HUMAN	CD93 molecule	327	EGF-like 2.				cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding			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)					GCAGCGGCACGTGTAGTTTTT	0.627													4	33					0	0	1	0	0	A	23065850	G	A	23065850	3	1	81	1	0	0	0	0	1	0	0	0	3069	1145	40	1	986	1	CD93	20	23065850	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	618	23065850	39959670	14154	17770											
GZF1	64412	broad.mit.edu	37	20	23350797	23350797	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:23350797G>A	ENST00000338121.5	+	6	1932	c.1855G>A	c.(1855-1857)Gga>Aga	p.G619R	GZF1_ENST00000542987.1_Missense_Mutation_p.G128R|GZF1_ENST00000377051.2_Missense_Mutation_p.G619R|GZF1_ENST00000544236.1_Missense_Mutation_p.G143R			Q9H116	GZF1_HUMAN	GDNF-inducible zinc finger protein 1	619					transcription, DNA-dependent	nucleolus|nucleoplasm	sequence-specific DNA binding|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|urinary_tract(2)	24	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)					GAACGATGACGGACACAAGAC	0.433													10	25					0	0	1	0	0	A	23350797	G	A	23350797	3	1	81	1	0	0	0	0	1	0	0	0	6955	1117	39	1	1873	1	GZF1	20	23350797	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	284947	23350797	39674723	14155	17771											
CST9	128822	broad.mit.edu	37	20	23586319	23586319	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:23586319C>A	ENST00000376971.3	-	1	194	c.183G>T	c.(181-183)caG>caT	p.Q61H		NM_001008693.2	NP_001008693.2	Q5W186	CST9_HUMAN	cystatin 9 (testatin)	61						extracellular region	cysteine-type endopeptidase inhibitor activity			central_nervous_system(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	12	Colorectal(13;0.0993)					CCTCCTTGCTCTGCACGTTGA	0.507													14	199					1.52009e-12	1.903e-12	1	1	0	A	23586319	C	A	23586319	3	1	81	1	0	0	0	0	1	0	0	0	4004	912	32	4	304	4	CST9	20	23586319	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	235522	23586319	39439201	14156	17772											
CST7	8530	broad.mit.edu	37	20	24939633	24939633	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:24939633C>A	ENST00000480798.1	+	3	589	c.313C>A	c.(313-315)Ctg>Atg	p.L105M	CST7_ENST00000376835.2_Missense_Mutation_p.L127M	NM_003650.3	NP_003641.3	O76096	CYTF_HUMAN	cystatin F (leukocystatin)	105					immune response	cytoplasm|extracellular region	cysteine-type endopeptidase inhibitor activity			large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	5						AAACCAGCACCTGCGTCTGGA	0.527													28	44					7.26314e-15	9.23631e-15	1	1	0	A	24939633	C	A	24939633	3	1	81	1	0	0	0	0	1	0	0	0	4002	680	24	4	323	4	CST7	20	24939633	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1353314	24939633	38085887	14157	17773											
PYGB	5834	broad.mit.edu	37	20	25228967	25228967	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:25228967C>T	ENST00000216962.4	+	1	263	c.153C>T	c.(151-153)gaC>gaT	p.D51D		NM_002862.3	NP_002853.2	P11216	PYGB_HUMAN	phosphorylase, glycogen; brain	51					glucose metabolic process|glycogen catabolic process	cytoplasm	glycogen phosphorylase activity|pyridoxal phosphate binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	31					Pyridoxal Phosphate(DB00114)	CGCCCCGCGACTACTTCTTCG	0.682													7	5					0	0	1	0	0	T	25228967	C	T	25228967	2	4	81	1	0	0	0	0	0	0	0	1	12912	564	20	2		2	PYGB	20	25228967	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	289334	25228967	37796553	14158	17774											
PYGB	5834	broad.mit.edu	37	20	25255257	25255257	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:25255257C>T	ENST00000216962.4	+	5	668	c.558C>T	c.(556-558)taC>taT	p.Y186Y		NM_002862.3	NP_002853.2	P11216	PYGB_HUMAN	phosphorylase, glycogen; brain	186					glucose metabolic process|glycogen catabolic process	cytoplasm	glycogen phosphorylase activity|pyridoxal phosphate binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	31					Pyridoxal Phosphate(DB00114)	GGCTGCGCTACGGCAACCCCT	0.647													40	53					0	0	1	0	0	T	25255257	C	T	25255257	2	4	81	1	0	0	0	0	0	0	0	1	12912	547	19	1		1	PYGB	20	25255257	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	26290	25255257	37770263	14159	17775											
PYGB	5834	broad.mit.edu	37	20	25259041	25259041	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:25259041G>A	ENST00000216962.4	+	8	1052	c.942G>A	c.(940-942)tcG>tcA	p.S314S		NM_002862.3	NP_002853.2	P11216	PYGB_HUMAN	phosphorylase, glycogen; brain	314					glucose metabolic process|glycogen catabolic process	cytoplasm	glycogen phosphorylase activity|pyridoxal phosphate binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	31					Pyridoxal Phosphate(DB00114)	GCTTCAAGTCGTCCAAGTTCG	0.617													5	48					0	0	1	0	0	A	25259041	G	A	25259041	2	1	81	1	0	0	0	0	0	0	0	1	12912	1132	40	1		1	PYGB	20	25259041	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	3784	25259041	37766479	14160	17776											
NINL	22981	broad.mit.edu	37	20	25434110	25434110	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:25434110C>T	ENST00000278886.6	-	24	4199	c.4126G>A	c.(4126-4128)Gcc>Acc	p.A1376T	NINL_ENST00000422516.1_Missense_Mutation_p.A1027T|NINL_ENST00000464285.1_5'UTR	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	1376					G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						GCTGCGGGGGCAATCCTACTG	0.498													34	34					0	0	1	0	0	T	25434110	C	T	25434110	3	4	81	1	0	0	0	0	1	0	0	0	10467	710	25	2	26	2	NINL	20	25434110	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	175069	25434110	37591410	14161	17777											
NINL	22981	broad.mit.edu	37	20	25434265	25434265	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:25434265G>A	ENST00000278886.6	-	24	4044	c.3971C>T	c.(3970-3972)aCg>aTg	p.T1324M	NINL_ENST00000422516.1_Missense_Mutation_p.T975M|NINL_ENST00000464285.1_5'UTR	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	1324					G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						GTCGGACTTCGTGTTCTTTTC	0.552													12	29					0	0	1	0	0	A	25434265	G	A	25434265	3	1	81	1	0	0	0	0	1	0	0	0	10467	1145	40	1	181	1	NINL	20	25434265	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	155	25434265	37591255	14162	17778											
NINL	22981	broad.mit.edu	37	20	25457246	25457246	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:25457246G>A	ENST00000278886.6	-	17	2754	c.2681C>T	c.(2680-2682)gCc>gTc	p.A894V	NINL_ENST00000422516.1_Intron	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	894					G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						CGGGGCAGGGGCGGGGGCCGG	0.687													7	9					0	0	1	0	0	A	25457246	G	A	25457246	3	1	81	1	0	0	0	0	1	0	0	0	10467	1203	42	2	1499	2	NINL	20	25457246	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	22981	25457246	37568274	14163	17779											
NINL	22981	broad.mit.edu	37	20	25457694	25457694	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:25457694G>T	ENST00000278886.6	-	17	2306	c.2233C>A	c.(2233-2235)Ctg>Atg	p.L745M	NINL_ENST00000422516.1_Intron	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	745					G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						AGCCCCGACAGCTCTCCACTC	0.682													8	9					0.000442599	0.000477972	1	1	0	T	25457694	G	T	25457694	3	4	81	1	0	0	0	0	1	0	0	0	10467	962	34	4	1947	4	NINL	20	25457694	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	448	25457694	37567826	14164	17780											
NINL	22981	broad.mit.edu	37	20	25470565	25470565	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:25470565C>T	ENST00000278886.6	-	12	1615	c.1542G>A	c.(1540-1542)tcG>tcA	p.S514S	NINL_ENST00000422516.1_Silent_p.S514S	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	514					G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						CCAGCCTCTCCGAATCCGAAA	0.577													41	57					0	0	1	0	0	T	25470565	C	T	25470565	2	4	81	1	0	0	0	0	0	0	0	1	10467	639	23	1		1	NINL	20	25470565	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	12871	25470565	37554955	14165	17781											
NINL	22981	broad.mit.edu	37	20	25491316	25491316	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:25491316C>T	ENST00000278886.6	-	5	584	c.511G>A	c.(511-513)Gca>Aca	p.A171T	NINL_ENST00000422516.1_Missense_Mutation_p.A171T	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	171					G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						TTACCTTGTGCTTCAAATAAT	0.502													39	61					0	0	1	0	0	T	25491316	C	T	25491316	3	4	81	1	0	0	0	0	1	0	0	0	10467	797	28	2	3717	2	NINL	20	25491316	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	20751	25491316	37534204	14166	17782											
NINL	22981	broad.mit.edu	37	20	25507058	25507058	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:25507058C>T	ENST00000278886.6	-	2	239	c.166G>A	c.(166-168)Gac>Aac	p.D56N	NINL_ENST00000422516.1_Missense_Mutation_p.D56N	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	56	EF-hand 2.				G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						GCGAAATGGTCGTTTCCGAGA	0.527													55	83					0	0	1	0	0	T	25507058	C	T	25507058	3	4	81	1	0	0	0	0	1	0	0	0	10467	884	31	1	4074	1	NINL	20	25507058	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	15742	25507058	37518462	14167	17783											
ZNF337	26152	broad.mit.edu	37	20	25655668	25655668	+	Nonstop_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:25655668T>C	ENST00000376436.1	-	4	2795	c.2256A>G	c.(2254-2256)tgA>tgG	p.*752W	RP4-694B14.5_ENST00000439498.1_RNA|RP4-694B14.5_ENST00000414393.1_RNA|RP4-694B14.5_ENST00000455791.1_RNA|ZNF337_ENST00000252979.5_Nonstop_Mutation_p.*752W|ZNF337_ENST00000538750.1_Nonstop_Mutation_p.*720W					zinc finger protein 337											breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						AGATATAACTTCAAGATGAAG	0.403													7	45					0	0	1	0	0	C	25655668	T	C	25655668	4	2	81	1	0	0	0	0	0	0	0	0	17910	1796	62	3	3	3	ZNF337	20	25655668	Nonstop_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	148610	25655668	37369852	14168	17784											
HM13	81502	broad.mit.edu	37	20	30115291	30115291	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:30115291C>A	ENST00000335574.5	+	2	312	c.188C>A	c.(187-189)gCt>gAt	p.A63D	HM13_ENST00000376127.3_Missense_Mutation_p.A63D|HM13_ENST00000340852.5_Missense_Mutation_p.A63D|HM13_ENST00000398174.3_Missense_Mutation_p.A63D	NM_178580.1	NP_848695.1	Q8TCT9	HM13_HUMAN	histocompatibility (minor) 13	63					membrane protein proteolysis	cell surface|endoplasmic reticulum membrane|integral to membrane|plasma membrane	aspartic-type endopeptidase activity|protein binding			breast(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	12	all_cancers(5;3.44e-05)|Lung NSC(7;4.38e-06)|all_lung(7;7.65e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		all cancers(5;0.000479)|Colorectal(19;0.00202)|COAD - Colon adenocarcinoma(19;0.0264)			CTCTAGAATGCTTCAGACATG	0.527													10	77					0.000673444	0.000721718	1	1	0	A	30115291	C	A	30115291	3	1	81	1	0	0	0	0	1	0	0	0	7258	797	28	4	194	4	HM13	20	30115291	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	4459623	30115291	32910229	14169	17785											
HM13	81502	broad.mit.edu	37	20	30142623	30142623	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:30142623G>A	ENST00000335574.5	+	8	923	c.799G>A	c.(799-801)Gtc>Atc	p.V267I	HM13_ENST00000492709.1_3'UTR|HM13_ENST00000376127.3_Missense_Mutation_p.V225I|HM13_ENST00000340852.5_Missense_Mutation_p.V267I|HM13_ENST00000398174.3_Missense_Mutation_p.V267I	NM_178580.1	NP_848695.1	Q8TCT9	HM13_HUMAN	histocompatibility (minor) 13	267					membrane protein proteolysis	cell surface|endoplasmic reticulum membrane|integral to membrane|plasma membrane	aspartic-type endopeptidase activity|protein binding			breast(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	12	all_cancers(5;3.44e-05)|Lung NSC(7;4.38e-06)|all_lung(7;7.65e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		all cancers(5;0.000479)|Colorectal(19;0.00202)|COAD - Colon adenocarcinoma(19;0.0264)			TGGAGATGTCGTCATTCCAGG	0.562													16	41					0	0	1	0	0	A	30142623	G	A	30142623	3	1	81	1	0	0	0	0	1	0	0	0	7258	1145	40	1	896	1	HM13	20	30142623	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	27332	30142623	32882897	14170	17786											
TPX2	22974	broad.mit.edu	37	20	30365440	30365440	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:30365440C>A	ENST00000340513.4	+	9	1409	c.881C>A	c.(880-882)cCt>cAt	p.P294H	TPX2_ENST00000300403.6_Splice_Site_p.P294H			Q9ULW0	TPX2_HUMAN	TPX2, microtubule-associated	294					activation of protein kinase activity|apoptosis|cell division|cell proliferation|mitosis|regulation of mitotic spindle organization	cytoplasm|microtubule|nucleus|spindle pole	ATP binding|GTP binding|protein kinase binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28			Epithelial(4;0.000771)|Colorectal(19;0.00306)|all cancers(5;0.004)|COAD - Colon adenocarcinoma(19;0.0347)|OV - Ovarian serous cystadenocarcinoma(3;0.0656)			CCTTCATCTCCTGTAAGTTGA	0.353													22	28					5.35356e-11	6.60132e-11	1	1	0	A	30365440	C	A	30365440	5	1	81	1	0	0	0	0	0	0	1	0	16493	695	24	4	907	4	TPX2	20	30365440	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	222817	30365440	32660080	14171	17787											
MYLK2	85366	broad.mit.edu	37	20	30414481	30414481	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:30414481T>C	ENST00000375994.2	+	6	1319	c.1046T>C	c.(1045-1047)aTc>aCc	p.I349T	MYLK2_ENST00000375985.4_Missense_Mutation_p.I349T			Q9H1R3	MYLK2_HUMAN	myosin light chain kinase 2	349	Protein kinase.				cardiac muscle tissue morphogenesis|regulation of muscle filament sliding		ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			TATGCAGCCATCGAGACTCCG	0.577													5	42					0	0	1	0	0	C	30414481	T	C	30414481	3	2	81	1	0	0	0	0	1	0	0	0	10105	1435	50	3	1068	3	MYLK2	20	30414481	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	49041	30414481	32611039	14172	17788											
FOXS1	2307	broad.mit.edu	37	20	30433195	30433195	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:30433195G>A	ENST00000375978.3	-	1	225	c.151C>T	c.(151-153)Cga>Tga	p.R51*		NM_004118.3	NP_004109.1	O43638	FOXS1_HUMAN	forkhead box S1	51					anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|insulin receptor signaling pathway|lymphangiogenesis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|neural crest cell fate commitment|neuromuscular process controlling balance|Notch signaling pathway|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of multicellular organism growth|positive regulation of transcription from RNA polymerase II promoter|regulation of blood vessel size|regulation of organ growth|somitogenesis|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	transcription factor complex	chromatin DNA binding|DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			kidney(1)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	9						AAGGCGAATCGGCCCATGATG	0.617													15	35					0	0	1	0	0	A	30433195	G	A	30433195	4	1	81	1	0	0	0	0	0	1	0	0	6069	1124	39	1	845	1	FOXS1	20	30433195	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	18714	30433195	32592325	14173	17789											
TM9SF4	9777	broad.mit.edu	37	20	30729426	30729426	+	Missense_Mutation	SNP	G	G	A	rs139891092		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:30729426G>A	ENST00000217315.5	+	4	645	c.305G>A	c.(304-306)cGa>cAa	p.R102Q	TM9SF4_ENST00000398022.2_Missense_Mutation_p.R119Q			Q92544	TM9S4_HUMAN	transmembrane 9 superfamily protein member 4	119						integral to membrane				central_nervous_system(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			GAGCAGAGCCGACTCGTGGCC	0.577													38	54					0	0	1	0	0	A	30729426	G	A	30729426	3	1	81	1	0	0	0	0	1	0	0	0	16040	1058	37	1	370	1	TM9SF4	20	30729426	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	296231	30729426	32296094	14174	17790											
POFUT1	23509	broad.mit.edu	37	20	30822373	30822373	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:30822373C>A	ENST00000375749.3	+	7	1138	c.1076C>A	c.(1075-1077)aCt>aAt	p.T359N	POFUT1_ENST00000539210.1_Missense_Mutation_p.T148N	NM_015352.1	NP_056167.1	Q9H488	OFUT1_HUMAN	protein O-fucosyltransferase 1	359					fucose metabolic process|Notch signaling pathway|O-glycan processing|regulation of transcription, DNA-dependent	endoplasmic reticulum|membrane	peptide-O-fucosyltransferase activity			breast(1)|endometrium(1)|large_intestine(1)|lung(2)|urinary_tract(1)	6			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			TCCTCCTTCACTGCCTTTGTG	0.607													14	102					4.7546e-09	5.70666e-09	1	1	0	A	30822373	C	A	30822373	3	1	81	1	0	0	0	0	1	0	0	0	12231	565	20	4	1149	4	POFUT1	20	30822373	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	92947	30822373	32203147	14175	17791											
KIF3B	9371	broad.mit.edu	37	20	30898940	30898940	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:30898940C>T	ENST00000375712.3	+	2	1527	c.1360C>T	c.(1360-1362)Cgg>Tgg	p.R454W	KIF3B_ENST00000418717.2_Missense_Mutation_p.R80W	NM_004798.3	NP_004789.1	O15066	KIF3B_HUMAN	kinesin family member 3B	454					anterograde axon cargo transport|blood coagulation|determination of left/right symmetry|mitotic centrosome separation|plus-end-directed vesicle transport along microtubule|spindle assembly involved in mitosis	centrosome|cytosol|kinesin II complex|plus-end kinesin complex|spindle microtubule	ATP binding|plus-end-directed microtubule motor activity|Rho GTPase binding			NS(2)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			GGAGGACCTGCGGCGGGAGAA	0.537													4	6					0	0	1	0	0	T	30898940	C	T	30898940	3	4	81	1	0	0	0	0	1	0	0	0	8343	759	27	1	1362	1	KIF3B	20	30898940	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	76567	30898940	32126580	14176	17792											
KIF3B	9371	broad.mit.edu	37	20	30904663	30904663	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:30904663G>A	ENST00000375712.3	+	5	1901	c.1734G>A	c.(1732-1734)agG>agA	p.R578R	KIF3B_ENST00000418717.2_Silent_p.R204R	NM_004798.3	NP_004789.1	O15066	KIF3B_HUMAN	kinesin family member 3B	578					anterograde axon cargo transport|blood coagulation|determination of left/right symmetry|mitotic centrosome separation|plus-end-directed vesicle transport along microtubule|spindle assembly involved in mitosis	centrosome|cytosol|kinesin II complex|plus-end kinesin complex|spindle microtubule	ATP binding|plus-end-directed microtubule motor activity|Rho GTPase binding			NS(2)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			AGCTCACCAGGGAGCTGAAAC	0.517													10	24					0	0	1	0	0	A	30904663	G	A	30904663	2	1	81	1	0	0	0	0	0	0	0	1	8343	1223	43	2		2	KIF3B	20	30904663	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	5723	30904663	32120857	14177	17793											
ASXL1	171023	broad.mit.edu	37	20	30954259	30954259	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:30954259A>C	ENST00000375687.4	+	2	554	c.130A>C	c.(130-132)Aag>Cag	p.K44Q	ASXL1_ENST00000375689.1_Missense_Mutation_p.K40Q|ASXL1_ENST00000470145.1_3'UTR|ASXL1_ENST00000542461.1_Missense_Mutation_p.K44Q|ASXL1_ENST00000306058.5_Missense_Mutation_p.K40Q	NM_015338.5	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like 1 (Drosophila)	44					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						AGAAGGACTAAAGGAAATGAG	0.373			"F, N, Mis"		"MDS, CMML"								38	62					0	0	1	0	0	C	30954259	A	C	30954259	3	2	81	1	0	0	0	0	1	0	0	0	1065	15	1	5	136	5	ASXL1	20	30954259	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	49596	30954259	32071261	14178	17794											
ASXL1	171023	broad.mit.edu	37	20	31017711	31017711	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:31017711G>A	ENST00000375687.4	+	8	997	c.573G>A	c.(571-573)tcG>tcA	p.S191S	ASXL1_ENST00000470145.1_3'UTR|ASXL1_ENST00000306058.5_Silent_p.S186S	NM_015338.5	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like 1 (Drosophila)	191					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						CAGGGTTCTCGGGCTGCCACG	0.642			"F, N, Mis"		"MDS, CMML"								23	31					0	0	1	0	0	A	31017711	G	A	31017711	2	1	81	1	0	0	0	0	0	0	0	1	1065	1103	39	1		1	ASXL1	20	31017711	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	63452	31017711	32007809	14179	17795											
ASXL1	171023	broad.mit.edu	37	20	31022979	31022979	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:31022979A>G	ENST00000375687.4	+	13	2888	c.2464A>G	c.(2464-2466)Aca>Gca	p.T822A	ASXL1_ENST00000306058.5_Missense_Mutation_p.T817A	NM_015338.5	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like 1 (Drosophila)	822					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding	p.T822fs*11(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						GGGAGATGATACATTAGAGAA	0.502			"F, N, Mis"		"MDS, CMML"								36	60					0	0	1	0	0	G	31022979	A	G	31022979	3	3	81	1	0	0	0	0	1	0	0	0	1065	391	14	3	2520	3	ASXL1	20	31022979	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	5268	31022979	32002541	14180	17796											
DNMT3B	1789	broad.mit.edu	37	20	31386361	31386361	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:31386361C>T	ENST00000328111.2	+	15	1907	c.1586C>T	c.(1585-1587)cCg>cTg	p.P529L	DNMT3B_ENST00000353855.2_Missense_Mutation_p.P509L|DNMT3B_ENST00000456297.2_Missense_Mutation_p.P433L|DNMT3B_ENST00000443239.3_Missense_Mutation_p.P467L|DNMT3B_ENST00000344505.4_Missense_Mutation_p.P509L|DNMT3B_ENST00000375623.4_3'UTR|DNMT3B_ENST00000348286.2_Missense_Mutation_p.P509L|DNMT3B_ENST00000201963.3_Missense_Mutation_p.P521L	NM_006892.3	NP_008823.1	Q9UBC3	DNM3B_HUMAN	DNA (cytosine-5-)-methyltransferase 3 beta	529	ADD.				negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation		metal ion binding|protein binding|transcription corepressor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						ATGTGTCTCCCGCAGCGCTGT	0.627													8	39					0	0	1	0	0	T	31386361	C	T	31386361	3	4	81	1	0	0	0	0	1	0	0	0	4704	652	23	1	1680	1	DNMT3B	20	31386361	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	363382	31386361	31639159	14181	17797											
DNMT3B	1789	broad.mit.edu	37	20	31393213	31393213	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:31393213G>T	ENST00000328111.2	+	21	2622	c.2301G>T	c.(2299-2301)aaG>aaT	p.K767N	DNMT3B_ENST00000353855.2_Splice_Site_p.K747N|DNMT3B_ENST00000456297.2_Intron|DNMT3B_ENST00000443239.3_Intron|DNMT3B_ENST00000344505.4_Splice_Site_p.K747N|DNMT3B_ENST00000348286.2_Intron|DNMT3B_ENST00000201963.3_Splice_Site_p.K759N	NM_006892.3	NP_008823.1	Q9UBC3	DNM3B_HUMAN	DNA (cytosine-5-)-methyltransferase 3 beta	767					negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation		metal ion binding|protein binding|transcription corepressor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GGATAGCCAAGGTAAGACGAG	0.498													21	29					5.26018e-13	6.61446e-13	1	1	0	T	31393213	G	T	31393213	5	4	81	1	0	0	0	0	0	0	1	0	4704	1014	35	4	2419	4	DNMT3B	20	31393213	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	6852	31393213	31632307	14182	17798											
DNMT3B	1789	broad.mit.edu	37	20	31395665	31395665	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:31395665C>T	ENST00000328111.2	+	23	2839	c.2518C>T	c.(2518-2520)Cga>Tga	p.R840*	DNMT3B_ENST00000353855.2_Nonsense_Mutation_p.R820*|DNMT3B_ENST00000456297.2_Nonsense_Mutation_p.R681*|DNMT3B_ENST00000443239.3_Nonsense_Mutation_p.R715*|DNMT3B_ENST00000344505.4_Missense_Mutation_p.P780L|DNMT3B_ENST00000348286.2_Nonsense_Mutation_p.R757*|DNMT3B_ENST00000201963.3_Nonsense_Mutation_p.R832*	NM_006892.3	NP_008823.1	Q9UBC3	DNM3B_HUMAN	DNA (cytosine-5-)-methyltransferase 3 beta	840			R -> Q (in ICF).		negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation		metal ion binding|protein binding|transcription corepressor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GCCTGTCATCCGACACCTCTT	0.602													12	102					0	0	1	0	0	T	31395665	C	T	31395665	4	4	81	1	0	0	0	0	0	1	0	0	4704	644	23	1	2644	1	DNMT3B	20	31395665	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2452	31395665	31629855	14183	17799											
CBFA2T2	9139	broad.mit.edu	37	20	32232249	32232249	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:32232249C>T	ENST00000492345.1	+	13	2210	c.1525C>T	c.(1525-1527)Cgg>Tgg	p.R509W	CBFA2T2_ENST00000346541.3_Missense_Mutation_p.R538W|CBFA2T2_ENST00000397800.1_Missense_Mutation_p.R509W|CBFA2T2_ENST00000359606.3_Missense_Mutation_p.R548W|CBFA2T2_ENST00000342704.6_Missense_Mutation_p.R529W|CBFA2T2_ENST00000375279.2_Missense_Mutation_p.R538W|CBFA2T2_ENST00000543126.1_Missense_Mutation_p.R86W			O43439	MTG8R_HUMAN	core-binding factor, runt domain, alpha subunit 2; translocated to, 2	538						nucleus	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)	20						GGACTGGGAGCGGCACCACCG	0.652													31	38					0	0	1	0	0	T	32232249	C	T	32232249	3	4	81	1	0	0	0	0	1	0	0	0	2715	759	27	1	1692	1	CBFA2T2	20	32232249	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	836584	32232249	30793271	14184	17800											
E2F1	1869	broad.mit.edu	37	20	32264576	32264576	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:32264576C>T	ENST00000343380.5	-	7	1415	c.1276G>A	c.(1276-1278)Gac>Aac	p.D426N		NM_005225.2	NP_005216.1	Q01094	E2F1_HUMAN	E2F transcription factor 1	426	Retinoblastoma protein RB1 binding (Potential).|Transactivation.				apoptosis|cell proliferation|G1 phase of mitotic cell cycle|G2 phase of mitotic cell cycle|mRNA stabilization|negative regulation of transcription involved in G1/S phase of mitotic cell cycle|positive regulation of fibroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle	mitochondrion|Rb-E2F complex	sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription factor binding			NS(2)|breast(1)|endometrium(3)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	16						AAGTCACAGTCGAAGAGGTCT	0.627													5	6					0	0	1	0	0	T	32264576	C	T	32264576	3	4	81	1	0	0	0	0	1	0	0	0	4892	884	31	1	41	1	E2F1	20	32264576	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	32327	32264576	30760944	14185	17801											
ZNF341	84905	broad.mit.edu	37	20	32379026	32379026	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:32379026C>T	ENST00000375200.1	+	15	2633	c.2268C>T	c.(2266-2268)tgC>tgT	p.C756C	RP4-553F4.6_ENST00000439444.1_RNA|RP4-553F4.6_ENST00000443171.1_RNA|RP4-553F4.6_ENST00000423074.1_RNA|ZNF341_ENST00000342427.2_Silent_p.C749C	NM_001282933.1	NP_001269862.1	Q9BYN7	ZN341_HUMAN	zinc finger protein 341	756					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	31						CCCGCAGTTGCGGCAGTGGTG	0.682													9	16					0	0	1	0	0	T	32379026	C	T	32379026	2	4	81	1	0	0	0	0	0	0	0	1	17914	776	27	1		1	ZNF341	20	32379026	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	114450	32379026	30646494	14186	17802											
RALY	22913	broad.mit.edu	37	20	32664552	32664552	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:32664552A>G	ENST00000375114.3	+	6	1119	c.541A>G	c.(541-543)Atc>Gtc	p.I181V	RALY_ENST00000246194.3_Missense_Mutation_p.I197V|RALY_ENST00000493399.1_3'UTR	NM_007367.3	NP_031393.2	Q9UKM9	RALY_HUMAN	RALY heterogeneous nuclear ribonucleoprotein	197						catalytic step 2 spliceosome|heterogeneous nuclear ribonucleoprotein complex	nucleotide binding|RNA binding			kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12						GCTGACACAGATCAAGTCCAA	0.587													4	44					0	0	1	0	0	G	32664552	A	G	32664552	3	3	81	1	0	0	0	0	1	0	0	0	13071	333	12	3	607	3	RALY	20	32664552	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	285526	32664552	30360968	14187	17803											
MAP1LC3A	84557	broad.mit.edu	37	20	33147655	33147655	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:33147655G>A	ENST00000360668.3	+	4	1080	c.319G>A	c.(319-321)Ggc>Agc	p.G107S	MAP1LC3A_ENST00000374837.3_Missense_Mutation_p.G111S|MAP1LC3A_ENST00000476428.1_3'UTR|MAP1LC3A_ENST00000397709.1_Missense_Mutation_p.G107S			Q9H492	MLP3A_HUMAN	microtubule-associated protein 1 light chain 3 alpha	107					autophagic vacuole assembly	autophagic vacuole membrane|cytoplasmic vesicle|cytosol|endomembrane system|microtubule	phosphatidylethanolamine binding|protein binding			cervix(1)|kidney(1)|large_intestine(1)|upper_aerodigestive_tract(2)	5						AGACGAGGACGGCTTCCTCTA	0.637													24	38					0	0	1	0	0	A	33147655	G	A	33147655	3	1	81	1	0	0	0	0	1	0	0	0	9280	1116	39	1	389	1	MAP1LC3A	20	33147655	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	483103	33147655	29877865	14188	17804											
MAP1LC3A	84557	broad.mit.edu	37	20	33147675	33147675	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:33147675C>T	ENST00000360668.3	+	4	1100	c.339C>T	c.(337-339)taC>taT	p.Y113Y	MAP1LC3A_ENST00000374837.3_Silent_p.Y117Y|MAP1LC3A_ENST00000476428.1_3'UTR|MAP1LC3A_ENST00000397709.1_Silent_p.Y113Y			Q9H492	MLP3A_HUMAN	microtubule-associated protein 1 light chain 3 alpha	113					autophagic vacuole assembly	autophagic vacuole membrane|cytoplasmic vesicle|cytosol|endomembrane system|microtubule	phosphatidylethanolamine binding|protein binding			cervix(1)|kidney(1)|large_intestine(1)|upper_aerodigestive_tract(2)	5						ATATGGTCTACGCCTCCCAGG	0.637													19	33					0	0	1	0	0	T	33147675	C	T	33147675	2	4	81	1	0	0	0	0	0	0	0	1	9280	547	19	1		1	MAP1LC3A	20	33147675	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	20	33147675	29877845	14189	17805											
NCOA6	23054	broad.mit.edu	37	20	33337721	33337721	+	Silent	SNP	C	C	T	rs149855221	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:33337721C>T	ENST00000374796.2	-	10	4847	c.2277G>A	c.(2275-2277)acG>acA	p.T759T	NCOA6_ENST00000359003.2_Silent_p.T759T			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	759	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						ACATCTGTCCCGTAAACTGCA	0.542													23	28					0	0	1	0	0	T	33337721	C	T	33337721	2	4	81	1	0	0	0	0	0	0	0	1	10280	639	23	1		1	NCOA6	20	33337721	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	190046	33337721	29687799	14190	17806											
NCOA6	23054	broad.mit.edu	37	20	33342588	33342588	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:33342588C>T	ENST00000374796.2	-	9	4182	c.1612G>A	c.(1612-1614)Gca>Aca	p.A538T	NCOA6_ENST00000359003.2_Missense_Mutation_p.A538T			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	538	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						GGGGTGGTTGCTGTGGTCGAA	0.483													3	59					0	0	1	0	0	T	33342588	C	T	33342588	3	4	81	1	0	0	0	0	1	0	0	0	10280	797	28	2	4611	2	NCOA6	20	33342588	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	4867	33342588	29682932	14191	17807											
GGT7	2686	broad.mit.edu	37	20	33449298	33449298	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:33449298C>T	ENST00000336431.5	-	4	669	c.625G>A	c.(625-627)Gca>Aca	p.A209T		NM_178026.2	NP_821158.2	Q9UJ14	GGT7_HUMAN	gamma-glutamyltransferase 7	209					glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity			NS(2)|breast(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)	20						GCCCCTGGTGCGGACTCCCGG	0.562													17	27					0	0	1	0	0	T	33449298	C	T	33449298	3	4	81	1	0	0	0	0	1	0	0	0	6406	768	27	1	1411	1	GGT7	20	33449298	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	106710	33449298	29576222	14192	17808											
ACSS2	55902	broad.mit.edu	37	20	33501898	33501898	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:33501898G>A	ENST00000360596.2	+	6	854		c.e6-1		ACSS2_ENST00000253382.5_Splice_Site|ACSS2_ENST00000336325.4_Splice_Site|ACSS2_ENST00000476922.1_Intron	NM_018677.3	NP_061147.1	Q9NR19	ACSA_HUMAN	acyl-CoA synthetase short-chain family member 2						ethanol oxidation|lipid biosynthetic process|xenobiotic metabolic process	cytosol|nucleus	acetate-CoA ligase activity|ATP binding|protein binding			cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(9)	21					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	GCTCCCCAAAGATGCCTTCTA	0.542													5	20					0	0	1	0	0	A	33501898	G	A	33501898	5	1	81	1	0	0	0	0	0	0	1	0	189	956	33	2	665	2	ACSS2	20	33501898	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	52600	33501898	29523622	14193	17809											
ACSS2	55902	broad.mit.edu	37	20	33501965	33501965	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:33501965G>A	ENST00000360596.2	+	6	921	c.710G>A	c.(709-711)tGt>tAt	p.C237Y	ACSS2_ENST00000253382.5_Missense_Mutation_p.C237Y|ACSS2_ENST00000336325.4_Missense_Mutation_p.C187Y|ACSS2_ENST00000476922.1_Intron	NM_018677.3	NP_061147.1	Q9NR19	ACSA_HUMAN	acyl-CoA synthetase short-chain family member 2	237					ethanol oxidation|lipid biosynthetic process|xenobiotic metabolic process	cytosol|nucleus	acetate-CoA ligase activity|ATP binding|protein binding			cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(9)	21					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	CTGCAGAAGTGTCAGGAGAAG	0.532													6	23					0	0	1	0	0	A	33501965	G	A	33501965	3	1	81	1	0	0	0	0	1	0	0	0	189	1377	48	2	732	2	ACSS2	20	33501965	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	67	33501965	29523555	14194	17810											
ACSS2	55902	broad.mit.edu	37	20	33511157	33511157	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:33511157G>A	ENST00000360596.2	+	14	1791	c.1580G>A	c.(1579-1581)cGc>cAc	p.R527H	ACSS2_ENST00000253382.5_Missense_Mutation_p.R540H|ACSS2_ENST00000336325.4_Missense_Mutation_p.R477H|ACSS2_ENST00000476922.1_3'UTR	NM_018677.3	NP_061147.1	Q9NR19	ACSA_HUMAN	acyl-CoA synthetase short-chain family member 2	527					ethanol oxidation|lipid biosynthetic process|xenobiotic metabolic process	cytosol|nucleus	acetate-CoA ligase activity|ATP binding|protein binding			cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(9)	21					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	GGGATCATGCGCACAGTCTAT	0.483													9	20					0	0	1	0	0	A	33511157	G	A	33511157	3	1	81	1	0	0	0	0	1	0	0	0	189	1087	38	1	1677	1	ACSS2	20	33511157	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	9192	33511157	29514363	14195	17811											
MYH7B	57644	broad.mit.edu	37	20	33568472	33568472	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:33568472G>A	ENST00000262873.7	+	6	652	c.560G>A	c.(559-561)cGc>cAc	p.R187H	MYH7B_ENST00000481922.1_3'UTR	NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	145	Myosin head-like.					membrane|myosin filament	actin binding|ATP binding|motor activity			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			AAGGGAAAGCGCCGCTCAGAT	0.582													40	58					0	0	1	0	0	A	33568472	G	A	33568472	3	1	81	1	0	0	0	0	1	0	0	0	10088	1087	38	1	582	1	MYH7B	20	33568472	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	57315	33568472	29457048	14196	17812											
MYH7B	57644	broad.mit.edu	37	20	33568531	33568531	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:33568531C>A	ENST00000262873.7	+	6	711	c.619C>A	c.(619-621)Ctg>Atg	p.L207M	MYH7B_ENST00000481922.1_3'UTR	NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	165	Myosin head-like.					membrane|myosin filament	actin binding|ATP binding|motor activity			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			CAACGACATGCTGCGCAGTAA	0.642													13	25					0.000308642	0.000334385	1	1	0	A	33568531	C	A	33568531	3	1	81	1	0	0	0	0	1	0	0	0	10088	796	28	4	641	4	MYH7B	20	33568531	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	59	33568531	29456989	14197	17813											
MYH7B	57644	broad.mit.edu	37	20	33575077	33575077	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:33575077C>T	ENST00000262873.7	+	14	1352	c.1260C>T	c.(1258-1260)gcC>gcT	p.A420A		NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	378	Myosin head-like.					membrane|myosin filament	actin binding|ATP binding|motor activity			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			AGGCGGAGGCCGATGGCACTG	0.562													44	59					0	0	1	0	0	T	33575077	C	T	33575077	2	4	81	1	0	0	0	0	0	0	0	1	10088	639	23	1		1	MYH7B	20	33575077	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	6546	33575077	29450443	14198	17814											
MYH7B	57644	broad.mit.edu	37	20	33584474	33584474	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:33584474G>A	ENST00000262873.7	+	28	3397	c.3305G>A	c.(3304-3306)cGc>cAc	p.R1102H		NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	1060						membrane|myosin filament	actin binding|ATP binding|motor activity			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			CGGGCCAAGCGCAAGCTGGAG	0.617													8	20					0	0	1	0	0	A	33584474	G	A	33584474	3	1	81	1	0	0	0	0	1	0	0	0	10088	1087	38	1	3415	1	MYH7B	20	33584474	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	9397	33584474	29441046	14199	17815											
MYH7B	57644	broad.mit.edu	37	20	33586624	33586624	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:33586624C>T	ENST00000262873.7	+	33	4314	c.4222C>T	c.(4222-4224)Cgg>Tgg	p.R1408W		NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	1366						membrane|myosin filament	actin binding|ATP binding|motor activity			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			TGAGCTGCAGCGGCTGCTGTC	0.657													3	9					0	0	1	0	0	T	33586624	C	T	33586624	3	4	81	1	0	0	0	0	1	0	0	0	10088	759	27	1	4352	1	MYH7B	20	33586624	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2150	33586624	29438896	14200	17816											
TRPC4AP	26133	broad.mit.edu	37	20	33632378	33632378	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:33632378C>T	ENST00000252015.2	-	7	884	c.795G>A	c.(793-795)acG>acA	p.T265T	TRPC4AP_ENST00000432634.2_Silent_p.T226T|TRPC4AP_ENST00000451813.2_Silent_p.T265T			Q8TEL6	TP4AP_HUMAN	transient receptor potential cation channel, subfamily C, member 4 associated protein	265	Interaction with TNFRSF1A (By similarity).				protein ubiquitination|ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex	protein binding			breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|skin(1)|stomach(1)|urinary_tract(1)	32			BRCA - Breast invasive adenocarcinoma(18;0.00936)			TGGCAAGAAGCGTGTGCTTGT	0.448													47	96					0	0	1	0	0	T	33632378	C	T	33632378	2	4	81	1	0	0	0	0	0	0	0	1	16642	755	27	1		1	TRPC4AP	20	33632378	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	45754	33632378	29393142	14201	17817											
TRPC4AP	26133	broad.mit.edu	37	20	33637791	33637791	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:33637791C>A	ENST00000252015.2	-	6	624	c.535G>T	c.(535-537)Gga>Tga	p.G179*	TRPC4AP_ENST00000432634.2_Nonsense_Mutation_p.G140*|TRPC4AP_ENST00000451813.2_Nonsense_Mutation_p.G179*			Q8TEL6	TP4AP_HUMAN	transient receptor potential cation channel, subfamily C, member 4 associated protein	179	Interaction with TNFRSF1A (By similarity).				protein ubiquitination|ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex	protein binding			breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|skin(1)|stomach(1)|urinary_tract(1)	32			BRCA - Breast invasive adenocarcinoma(18;0.00936)			TTTGTAACTCCCTCTGTCTGT	0.368													5	56					0.0215528	0.0221217	1	1	0	A	33637791	C	A	33637791	4	1	81	1	0	0	0	0	0	1	0	0	16642	632	22	5	1914	5	TRPC4AP	20	33637791	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	5413	33637791	29387729	14202	17818											
EDEM2	55741	broad.mit.edu	37	20	33703440	33703440	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:33703440G>A	ENST00000374492.3	-	11	1638	c.1533C>T	c.(1531-1533)agC>agT	p.S511S	EDEM2_ENST00000374491.3_Silent_p.S474S|EDEM2_ENST00000542871.1_Silent_p.S235S|EDEM2_ENST00000541621.1_Silent_p.S290S	NM_018217.2	NP_060687.2	Q9BV94	EDEM2_HUMAN	ER degradation enhancer, mannosidase alpha-like 2	511				S -> C (in Ref. 1; BAA91806).	post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	22			BRCA - Breast invasive adenocarcinoma(18;0.00936)			ATTTCGACCTGCTCCGTTTGA	0.552													16	176					0	0	1	0	0	A	33703440	G	A	33703440	2	1	81	1	0	0	0	0	0	0	0	1	4938	1310	46	2		2	EDEM2	20	33703440	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	65649	33703440	29322080	14203	17819											
MMP24	10893	broad.mit.edu	37	20	33839824	33839824	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:33839824G>T	ENST00000246186.6	+	3	597	c.512G>T	c.(511-513)aGc>aTc	p.S171I	MMP24-AS1_ENST00000433764.1_RNA|EDEM2_ENST00000540582.1_Intron|MMP24-AS1_ENST00000438751.1_RNA|MMP24-AS1_ENST00000566203.2_RNA|MMP24-AS1_ENST00000454184.1_RNA|MMP24-AS1_ENST00000456350.1_RNA	NM_006690.3	NP_006681.1	Q9Y5R2	MMP24_HUMAN	matrix metallopeptidase 24 (membrane-inserted)	171					proteolysis	integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			NS(1)|endometrium(3)|large_intestine(1)|lung(2)|prostate(2)|skin(5)	14			BRCA - Breast invasive adenocarcinoma(18;0.00252)			ATCACCTACAGGTGCTTCGAC	0.562													5	41					0.000602214	0.000646338	1	1	0	T	33839824	G	T	33839824	5	4	81	1	0	0	0	0	0	0	1	0	9710	1014	35	4	272	4	MMP24	20	33839824	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	136384	33839824	29185696	14204	17820											
FAM83C	128876	broad.mit.edu	37	20	33875125	33875125	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:33875125C>T	ENST00000374408.3	-	4	1553	c.1457G>A	c.(1456-1458)gGc>gAc	p.G486D		NM_178468.5	NP_848563.1	Q9BQN1	FA83C_HUMAN	family with sequence similarity 83, member C	486										central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(18;0.00252)			CAGGGTTGTGCCAGGTACCCA	0.632													28	38					0	0	1	0	0	T	33875125	C	T	33875125	3	4	81	1	0	0	0	0	1	0	0	0	5667	739	26	2	790	2	FAM83C	20	33875125	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	35301	33875125	29150395	14205	17821											
GDF5	8200	broad.mit.edu	37	20	34021926	34021926	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:34021926G>A	ENST00000374372.1	-	4	1790	c.1287C>T	c.(1285-1287)tgC>tgT	p.C429C	GDF5OS_ENST00000374375.1_5'UTR|GDF5_ENST00000374369.3_Silent_p.C429C			P43026	GDF5_HUMAN	growth differentiation factor 5	429					cartilage development|cell-cell signaling|growth|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(9)|skin(3)	26	Lung NSC(9;0.00642)|all_lung(11;0.0094)		BRCA - Breast invasive adenocarcinoma(18;0.00663)			ACAGCCCCTCGCAGTGGAAAG	0.587													22	38					0	0	1	0	0	A	34021926	G	A	34021926	2	1	81	1	0	0	0	0	0	0	0	1	6358	1079	38	1		1	GDF5	20	34021926	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	146801	34021926	29003594	14206	17822											
GDF5	8200	broad.mit.edu	37	20	34022013	34022013	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:34022013G>A	ENST00000374372.1	-	4	1703	c.1200C>T	c.(1198-1200)tgC>tgT	p.C400C	GDF5OS_ENST00000374375.1_Silent_p.L19L|GDF5_ENST00000374369.3_Silent_p.C400C			P43026	GDF5_HUMAN	growth differentiation factor 5	400			C -> Y (in AMDG).		cartilage development|cell-cell signaling|growth|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(9)|skin(3)	26	Lung NSC(9;0.00642)|all_lung(11;0.0094)		BRCA - Breast invasive adenocarcinoma(18;0.00663)			CCTTCCGACTGCAGCGAGCCT	0.612													71	81					0	0	1	0	0	A	34022013	G	A	34022013	2	1	81	1	0	0	0	0	0	0	0	1	6358	1311	46	2		2	GDF5	20	34022013	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	87	34022013	29003507	14207	17823											
GDF5	8200	broad.mit.edu	37	20	34025186	34025186	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:34025186A>G	ENST00000374372.1	-	3	1026	c.523T>C	c.(523-525)Tcg>Ccg	p.S175P	GDF5_ENST00000374369.3_Missense_Mutation_p.S175P			P43026	GDF5_HUMAN	growth differentiation factor 5	175					cartilage development|cell-cell signaling|growth|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(9)|skin(3)	26	Lung NSC(9;0.00642)|all_lung(11;0.0094)		BRCA - Breast invasive adenocarcinoma(18;0.00663)			CTGTACAGCGAGAGCATGTAC	0.612													26	46					0	0	1	0	0	G	34025186	A	G	34025186	3	3	81	1	0	0	0	0	1	0	0	0	6358	304	11	3	990	3	GDF5	20	34025186	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	3173	34025186	29000334	14208	17824											
CEP250	11190	broad.mit.edu	37	20	34091114	34091114	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:34091114C>T	ENST00000397527.1	+	30	5637	c.4917C>T	c.(4915-4917)atC>atT	p.I1639I	CEP250_ENST00000342580.4_Silent_p.I1583I	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	1639	Gln/Glu-rich.				centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			GAGAACAGATCGAGGAGCTGC	0.562													32	31					0	0	1	0	0	T	34091114	C	T	34091114	2	4	81	1	0	0	0	0	0	0	0	1	3274	874	31	1		1	CEP250	20	34091114	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	65928	34091114	28934406	14209	17825											
CEP250	11190	broad.mit.edu	37	20	34092805	34092805	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:34092805A>G	ENST00000397527.1	+	30	7328	c.6608A>G	c.(6607-6609)gAg>gGg	p.E2203G	CEP250_ENST00000342580.4_Missense_Mutation_p.E2147G	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	2203					centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			TCTGTCCTGGAGCGGGACTCA	0.607													4	15					0	0	1	0	0	G	34092805	A	G	34092805	3	3	81	1	0	0	0	0	1	0	0	0	3274	304	11	3	6714	3	CEP250	20	34092805	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	1691	34092805	28932715	14210	17826											
CEP250	11190	broad.mit.edu	37	20	34099322	34099322	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:34099322C>T	ENST00000397527.1	+	35	7916	c.7196C>T	c.(7195-7197)gCc>gTc	p.A2399V	CEP250_ENST00000342580.4_Missense_Mutation_p.A2343V	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	2399					centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			CTTGCCGTGGCCCAGGCCCCT	0.632													18	39					0	0	1	0	0	T	34099322	C	T	34099322	3	4	81	1	0	0	0	0	1	0	0	0	3274	739	26	2	7322	2	CEP250	20	34099322	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	6517	34099322	28926198	14211	17827											
ERGIC3	51614	broad.mit.edu	37	20	34143831	34143831	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:34143831C>A	ENST00000348547.2	+	9	822	c.745C>A	c.(745-747)Ctg>Atg	p.L249M	ERGIC3_ENST00000447986.1_Missense_Mutation_p.L264M|ERGIC3_ENST00000482338.1_3'UTR|ERGIC3_ENST00000357394.4_Missense_Mutation_p.L254M|ERGIC3_ENST00000279052.6_Missense_Mutation_p.L254M	NM_015966.2	NP_057050.1	Q9Y282	ERGI3_HUMAN	ERGIC and golgi 3	249					vesicle-mediated transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi apparatus|integral to membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)	16	Lung NSC(9;0.00489)|all_lung(11;0.00729)		BRCA - Breast invasive adenocarcinoma(18;0.0127)			CATCCAGCACCTGTCATTTGG	0.572													18	137					2.94398e-08	3.49414e-08	1	1	0	A	34143831	C	A	34143831	3	1	81	1	0	0	0	0	1	0	0	0	5253	680	24	4	798	4	ERGIC3	20	34143831	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	44509	34143831	28881689	14212	17828											
ERGIC3	51614	broad.mit.edu	37	20	34144848	34144848	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:34144848G>A	ENST00000348547.2	+	11	1061	c.984G>A	c.(982-984)tcG>tcA	p.S328S	ERGIC3_ENST00000447986.1_Silent_p.S343S|ERGIC3_ENST00000357394.4_Silent_p.S333S|ERGIC3_ENST00000279052.6_Silent_p.S333S	NM_015966.2	NP_057050.1	Q9Y282	ERGI3_HUMAN	ERGIC and golgi 3	328					vesicle-mediated transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi apparatus|integral to membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)	16	Lung NSC(9;0.00489)|all_lung(11;0.00729)		BRCA - Breast invasive adenocarcinoma(18;0.0127)			ATGAGCTCTCGCCCATGATGG	0.602													19	20					0	0	1	0	0	A	34144848	G	A	34144848	2	1	81	1	0	0	0	0	0	0	0	1	5253	1074	38	1		1	ERGIC3	20	34144848	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1017	34144848	28880672	14213	17829											
NFS1	9054	broad.mit.edu	37	20	34263069	34263069	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:34263069C>A	ENST00000374092.4	-	8	916	c.846G>T	c.(844-846)caG>caT	p.Q282H	NFS1_ENST00000397425.1_Missense_Mutation_p.Q222H|NFS1_ENST00000374085.1_Missense_Mutation_p.Q222H|NFS1_ENST00000541387.1_Missense_Mutation_p.Q231H|NFS1_ENST00000540053.1_Missense_Mutation_p.Q80H	NM_021100.4	NP_066923.3	Q9Y697	NFS1_HUMAN	NFS1 cysteine desulfurase	282					cysteine metabolic process|iron incorporation into metallo-sulfur cluster|Mo-molybdopterin cofactor biosynthetic process|protein complex assembly|water-soluble vitamin metabolic process	cytosol|mitochondrial matrix|nucleus	cysteine desulfurase activity|protein homodimerization activity|pyridoxal phosphate binding			central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	18	Lung NSC(9;0.00608)|all_lung(11;0.00918)		BRCA - Breast invasive adenocarcinoma(18;0.0886)		L-Alanine(DB00160)|L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114)	CCCCTCCACTCTGCAGGGCCT	0.592													7	14					0.00198382	0.00209725	1	1	0	A	34263069	C	A	34263069	3	1	81	1	0	0	0	0	1	0	0	0	10432	912	32	4	551	4	NFS1	20	34263069	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	118221	34263069	28762451	14214	17830											
NFS1	9054	broad.mit.edu	37	20	34284379	34284379	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:34284379C>A	ENST00000374092.4	-	4	398	c.328G>T	c.(328-330)Gta>Tta	p.V110L	NFS1_ENST00000397425.1_Missense_Mutation_p.V50L|NFS1_ENST00000306750.3_Missense_Mutation_p.V110L|NFS1_ENST00000374085.1_Missense_Mutation_p.V50L|NFS1_ENST00000541387.1_Missense_Mutation_p.V110L|NFS1_ENST00000540053.1_5'UTR	NM_021100.4	NP_066923.3	Q9Y697	NFS1_HUMAN	NFS1 cysteine desulfurase	110					cysteine metabolic process|iron incorporation into metallo-sulfur cluster|Mo-molybdopterin cofactor biosynthetic process|protein complex assembly|water-soluble vitamin metabolic process	cytosol|mitochondrial matrix|nucleus	cysteine desulfurase activity|protein homodimerization activity|pyridoxal phosphate binding			central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	18	Lung NSC(9;0.00608)|all_lung(11;0.00918)		BRCA - Breast invasive adenocarcinoma(18;0.0886)		L-Alanine(DB00160)|L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114)	AGAGATGCTACTTGCTGCAAG	0.463													24	74					3.5997e-14	4.56289e-14	1	1	0	A	34284379	C	A	34284379	3	1	81	1	0	0	0	0	1	0	0	0	10432	565	20	4	1085	4	NFS1	20	34284379	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	21310	34284379	28741141	14215	17831											
NFS1	9054	broad.mit.edu	37	20	34285617	34285617	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:34285617G>A	ENST00000374092.4	-	3	383	c.313C>T	c.(313-315)Cgt>Tgt	p.R105C	NFS1_ENST00000397425.1_Missense_Mutation_p.R45C|NFS1_ENST00000306750.3_Missense_Mutation_p.R105C|NFS1_ENST00000374085.1_Missense_Mutation_p.R45C|NFS1_ENST00000541387.1_Missense_Mutation_p.R105C|NFS1_ENST00000540053.1_De_novo_Start_InFrame	NM_021100.4	NP_066923.3	Q9Y697	NFS1_HUMAN	NFS1 cysteine desulfurase	105					cysteine metabolic process|iron incorporation into metallo-sulfur cluster|Mo-molybdopterin cofactor biosynthetic process|protein complex assembly|water-soluble vitamin metabolic process	cytosol|mitochondrial matrix|nucleus	cysteine desulfurase activity|protein homodimerization activity|pyridoxal phosphate binding			central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	18	Lung NSC(9;0.00608)|all_lung(11;0.00918)		BRCA - Breast invasive adenocarcinoma(18;0.0886)		L-Alanine(DB00160)|L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114)	TGACGAGCACGTTCCATGGCT	0.542													18	28					0	0	1	0	0	A	34285617	G	A	34285617	3	1	81	1	0	0	0	0	1	0	0	0	10432	1145	40	1	1104	1	NFS1	20	34285617	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1238	34285617	28739903	14216	17832											
ROMO1	140823	broad.mit.edu	37	20	34288814	34288814	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:34288814G>T	ENST00000374078.1	+	3	406	c.226G>T	c.(226-228)Ggc>Tgc	p.G76C	ROMO1_ENST00000336695.4_Missense_Mutation_p.G76C|ROMO1_ENST00000374077.3_Missense_Mutation_p.G76C|ROMO1_ENST00000374072.1_3'UTR|ROMO1_ENST00000397416.1_Missense_Mutation_p.G76C	NM_080748.2	NP_542786.1	P60602	ROMO1_HUMAN	reactive oxygen species modulator 1	76					cellular response to reactive oxygen species|positive regulation of cell proliferation|positive regulation of reactive oxygen species metabolic process|replicative cell aging	integral to membrane|mitochondrial membrane				cervix(1)	1						CATTGGGATGGGCATCCGATG	0.522													16	41					1.5739e-10	1.93127e-10	1	1	0	T	34288814	G	T	34288814	3	4	81	1	0	0	0	0	1	0	0	0	13574	1232	43	5	232	5	ROMO1	20	34288814	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	3197	34288814	28736706	14217	17833											
RBM39	9584	broad.mit.edu	37	20	34319989	34319989	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:34319989C>T	ENST00000361162.6	-	4	554	c.170G>A	c.(169-171)cGa>cAa	p.R57Q	RBM39_ENST00000407261.4_5'UTR|RBM39_ENST00000253363.6_Missense_Mutation_p.R57Q|RBM39_ENST00000528062.3_Missense_Mutation_p.R57Q	NM_004902.3|NM_184234.2	NP_004893.1|NP_909122.1	Q14498	RBM39_HUMAN	RNA binding motif protein 39	57	Arg/Ser-rich (RS domain).				mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	centrosome|nuclear speck	nucleotide binding|protein binding|RNA binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	all_epithelial(2;0.00295)|Lung NSC(9;0.00453)|Breast(12;0.00544)|all_lung(11;0.00676)					GTCTCTACTTCGCTTCCGTTC	0.443													47	80					0	0	1	0	0	T	34319989	C	T	34319989	3	4	81	1	0	0	0	0	1	0	0	0	13185	884	31	1	1478	1	RBM39	20	34319989	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	31175	34319989	28705531	14218	17834											
PHF20	51230	broad.mit.edu	37	20	34446286	34446286	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:34446286G>A	ENST00000374012.3	+	5	532	c.403G>A	c.(403-405)Gct>Act	p.A135T	PHF20_ENST00000481202.1_Intron|PHF20_ENST00000439301.1_Missense_Mutation_p.A135T			Q9BVI0	PHF20_HUMAN	PHD finger protein 20	135					regulation of transcription, DNA-dependent|transcription, DNA-dependent	MLL1 complex	DNA binding|zinc ion binding			breast(5)|endometrium(1)|kidney(7)|large_intestine(6)|lung(11)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(12;0.00631)|all_lung(11;0.0145)					TCATGTCAAAGCTTTTTCCAA	0.303													31	73					0	0	1	0	0	A	34446286	G	A	34446286	3	1	81	1	0	0	0	0	1	0	0	0	11879	971	34	2	417	2	PHF20	20	34446286	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	126297	34446286	28579234	14219	17835											
PHF20	51230	broad.mit.edu	37	20	34451299	34451299	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:34451299G>T	ENST00000374012.3	+	6	914	c.785G>T	c.(784-786)aGa>aTa	p.R262I	PHF20_ENST00000481202.1_3'UTR|PHF20_ENST00000439301.1_Missense_Mutation_p.Q240H			Q9BVI0	PHF20_HUMAN	PHD finger protein 20	262					regulation of transcription, DNA-dependent|transcription, DNA-dependent	MLL1 complex	DNA binding|zinc ion binding			breast(5)|endometrium(1)|kidney(7)|large_intestine(6)|lung(11)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(12;0.00631)|all_lung(11;0.0145)					AAACGAGGCAGACCCCCTTCC	0.448													45	57					6.31075e-24	8.32248e-24	1	1	0	T	34451299	G	T	34451299	3	4	81	1	0	0	0	0	1	0	0	0	11879	942	33	4	803	4	PHF20	20	34451299	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	5013	34451299	28574221	14220	17836											
DLGAP4	22839	broad.mit.edu	37	20	35155232	35155232	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:35155232C>T	ENST00000373913.3	+	13	3248	c.2768C>T	c.(2767-2769)cCc>cTc	p.P923L	RP5-977B1.7_ENST00000425233.1_RNA|DLGAP4_ENST00000475894.1_3'UTR|DLGAP4_ENST00000339266.5_Missense_Mutation_p.P926L|DLGAP4_ENST00000340491.4_Missense_Mutation_p.P387L|DLGAP4_ENST00000401952.2_Missense_Mutation_p.P923L|DLGAP4_ENST00000373907.2_Missense_Mutation_p.P926L|RP5-977B1.7_ENST00000439595.1_RNA			Q9Y2H0	DLGP4_HUMAN	discs, large (Drosophila) homolog-associated protein 4	926					cell-cell signaling	membrane	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				AAGAAACCACCCCCTCCGGTC	0.562													6	5					0	0	1	0	0	T	35155232	C	T	35155232	3	4	81	1	0	0	0	0	1	0	0	0	4590	623	22	2	2938	2	DLGAP4	20	35155232	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	703933	35155232	27870288	14221	17837											
SLA2	84174	broad.mit.edu	37	20	35262913	35262913	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:35262913C>T	ENST00000262866.4	-	3	593	c.171G>A	c.(169-171)gaG>gaA	p.E57E	SLA2_ENST00000360672.2_Silent_p.E57E	NM_032214.3|NM_175077.2	NP_115590.1|NP_778252.1	Q9H6Q3	SLAP2_HUMAN	Src-like-adaptor 2	57	SH3.				antigen receptor-mediated signaling pathway|B cell mediated immunity|intracellular receptor mediated signaling pathway|negative regulation of B cell activation|negative regulation of calcium-mediated signaling|negative regulation of transcription from RNA polymerase II promoter|T cell activation	cytoplasmic membrane-bounded vesicle|endosome membrane|plasma membrane	protein N-terminus binding|SH3/SH2 adaptor activity			endometrium(1)|lung(2)|skin(2)	5	Breast(12;0.114)	Myeloproliferative disorder(115;0.00878)				TGGTCAATGGCTCCCCGAGTC	0.582													7	19					0	0	1	0	0	T	35262913	C	T	35262913	2	4	81	1	0	0	0	0	0	0	0	1	14419	796	28	2		2	SLA2	20	35262913	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	107681	35262913	27762607	14222	17838											
NDRG3	57446	broad.mit.edu	37	20	35335406	35335406	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:35335406C>T	ENST00000373803.2	-	3	118	c.62G>A	c.(61-63)gGt>gAt	p.G21D	NDRG3_ENST00000373773.3_Missense_Mutation_p.V2I|NDRG3_ENST00000349004.1_Missense_Mutation_p.G21D|NDRG3_ENST00000359675.2_Intron|NDRG3_ENST00000540765.1_Intron			Q9UGV2	NDRG3_HUMAN	NDRG family member 3	21					cell differentiation|negative regulation of cell growth|spermatogenesis	cytoplasm				endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12		Myeloproliferative disorder(115;0.00878)				GTTTCTTGTACCATTCTGTCA	0.478													6	57					0	0	1	0	0	T	35335406	C	T	35335406	3	4	81	1	0	0	0	0	1	0	0	0	10300	507	18	2	1121	2	NDRG3	20	35335406	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	72493	35335406	27690114	14223	17839											
SAMHD1	25939	broad.mit.edu	37	20	35559184	35559184	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:35559184C>T	ENST00000262878.4	-	5	803	c.604G>A	c.(604-606)Gct>Act	p.A202T	SAMHD1_ENST00000373694.5_5'UTR	NM_015474.3	NP_056289.2	Q9Y3Z3	SAMH1_HUMAN	SAM domain and HD domain 1	202	HD.				defense response to virus|innate immune response|regulation of innate immune response	nucleus	metal ion binding|phosphoric diester hydrolase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	20		Myeloproliferative disorder(115;0.00878)				CAAAGTCCAGCAATCTGAACA	0.413													12	115					0	0	1	0	0	T	35559184	C	T	35559184	3	4	81	1	0	0	0	0	1	0	0	0	13880	710	25	2	1324	2	SAMHD1	20	35559184	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	223778	35559184	27466336	14224	17840											
SAMHD1	25939	broad.mit.edu	37	20	35575193	35575193	+	Translation_Start_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:35575193C>A	ENST00000373694.5	-	0	287				SAMHD1_ENST00000262878.4_Missense_Mutation_p.G75C			Q9Y3Z3	SAMH1_HUMAN	SAM domain and HD domain 1						defense response to virus|innate immune response|regulation of innate immune response	nucleus	metal ion binding|phosphoric diester hydrolase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	20		Myeloproliferative disorder(115;0.00878)				AGTAATGCGCCTGTGATTTCA	0.323													6	20					0.0215528	0.0221217	1	1	0	A	35575193	C	A	35575193	1	1	81	1	0	0	0	0	0	0	0	0	13880	681	24	4		4	SAMHD1	20	35575193	Translation_Start_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	16009	35575193	27450327	14225	17841											
RBL1	5933	broad.mit.edu	37	20	35627269	35627269	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:35627269C>A	ENST00000373664.3	-	22	3166	c.3100G>T	c.(3100-3102)Gcc>Tcc	p.A1034S		NM_002895.2	NP_002886.2	P28749	RBL1_HUMAN	retinoblastoma-like 1 (p107)	1034					cell cycle|chromatin modification|interspecies interaction between organisms|regulation of cell cycle|regulation of lipid kinase activity|transcription, DNA-dependent		transcription factor binding			NS(1)|breast(1)|endometrium(7)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	42		Myeloproliferative disorder(115;0.00878)				CTATCGATGGCTATTACTCGC	0.423													22	74					7.87624e-14	9.96214e-14	1	1	0	A	35627269	C	A	35627269	3	1	81	1	0	0	0	0	1	0	0	0	13161	797	28	4	110	4	RBL1	20	35627269	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	52076	35627269	27398251	14226	17842											
RBL1	5933	broad.mit.edu	37	20	35661096	35661096	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:35661096G>T	ENST00000373664.3	-	16	2420	c.2354C>A	c.(2353-2355)aCt>aAt	p.T785N	RBL1_ENST00000344359.3_Missense_Mutation_p.T785N	NM_002895.2	NP_002886.2	P28749	RBL1_HUMAN	retinoblastoma-like 1 (p107)	785	Domain B.|Pocket; binds T and E1A.				cell cycle|chromatin modification|interspecies interaction between organisms|regulation of cell cycle|regulation of lipid kinase activity|transcription, DNA-dependent		transcription factor binding			NS(1)|breast(1)|endometrium(7)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	42		Myeloproliferative disorder(115;0.00878)				TAAGGACCCAGTTCTCTTTGG	0.363													8	172					5.68852e-11	7.00816e-11	1	1	0	T	35661096	G	T	35661096	3	4	81	1	0	0	0	0	1	0	0	0	13161	1029	36	4	889	4	RBL1	20	35661096	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	33827	35661096	27364424	14227	17843											
RBL1	5933	broad.mit.edu	37	20	35672549	35672549	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:35672549G>A	ENST00000373664.3	-	13	1776	c.1710C>T	c.(1708-1710)caC>caT	p.H570H	RBL1_ENST00000344359.3_Silent_p.H570H	NM_002895.2	NP_002886.2	P28749	RBL1_HUMAN	retinoblastoma-like 1 (p107)	570	Domain A.|Pocket; binds T and E1A.				cell cycle|chromatin modification|interspecies interaction between organisms|regulation of cell cycle|regulation of lipid kinase activity|transcription, DNA-dependent		transcription factor binding			NS(1)|breast(1)|endometrium(7)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	42		Myeloproliferative disorder(115;0.00878)				GTGCAGAATCGTGACTCCATG	0.458													25	30					0	0	1	0	0	A	35672549	G	A	35672549	2	1	81	1	0	0	0	0	0	0	0	1	13161	1136	40	1		1	RBL1	20	35672549	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	11453	35672549	27352971	14228	17844											
RBL1	5933	broad.mit.edu	37	20	35672579	35672579	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:35672579T>G	ENST00000373664.3	-	13	1746	c.1680A>C	c.(1678-1680)gaA>gaC	p.E560D	RBL1_ENST00000344359.3_Missense_Mutation_p.E560D	NM_002895.2	NP_002886.2	P28749	RBL1_HUMAN	retinoblastoma-like 1 (p107)	560	Domain A.|Pocket; binds T and E1A.				cell cycle|chromatin modification|interspecies interaction between organisms|regulation of cell cycle|regulation of lipid kinase activity|transcription, DNA-dependent		transcription factor binding			NS(1)|breast(1)|endometrium(7)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	42		Myeloproliferative disorder(115;0.00878)				CCAAAATCTGTTCTTCAATGC	0.483													22	38					0	0	1	0	0	G	35672579	T	G	35672579	3	3	81	1	0	0	0	0	1	0	0	0	13161	1722	60	5	1575	5	RBL1	20	35672579	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	30	35672579	27352941	14229	17845											
RPN2	6185	broad.mit.edu	37	20	35812582	35812582	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:35812582G>T	ENST00000237530.6	+	2	324		c.e2-1		RPN2_ENST00000373622.5_Splice_Site	NM_002951.3	NP_002942.2	P04844	RPN2_HUMAN	ribophorin II						post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|nucleus|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(2)|stomach(1)	24		Myeloproliferative disorder(115;0.00878)				TTCCCCCCAAGGTTCAAGCAC	0.502													19	38					6.94344e-10	8.44171e-10	1	1	0	T	35812582	G	T	35812582	5	4	81	1	0	0	0	0	0	0	1	0	13660	1014	35	4	19	4	RPN2	20	35812582	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	140003	35812582	27212938	14230	17846											
GHRH	2691	broad.mit.edu	37	20	35884894	35884894	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:35884894G>A	ENST00000373614.2	-	3	202	c.91C>T	c.(91-93)Cgg>Tgg	p.R31W	GHRH_ENST00000237527.3_Missense_Mutation_p.R31W|GHRH_ENST00000373611.2_Missense_Mutation_p.R31W			P01286	SLIB_HUMAN	growth hormone releasing hormone	31					activation of adenylate cyclase activity by G-protein signaling pathway|adenohypophysis development|growth hormone secretion|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation|positive regulation of circadian sleep/wake cycle, REM sleep|positive regulation of growth hormone secretion|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of multicellular organism growth|response to food	extracellular space|terminal button	growth hormone-releasing hormone activity|growth hormone-releasing hormone receptor binding			lung(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	4		Myeloproliferative disorder(115;0.00878)				TCTGCATACCGCCGCATCCTG	0.632													19	29					0	0	1	0	0	A	35884894	G	A	35884894	3	1	81	1	0	0	0	0	1	0	0	0	6414	1086	38	1	247	1	GHRH	20	35884894	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	72312	35884894	27140626	14231	17847											
BLCAP	10904	broad.mit.edu	37	20	36147459	36147459	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:36147459G>A	ENST00000414542.2	-	3	565	c.118C>T	c.(118-120)Cgg>Tgg	p.R40W	BLCAP_ENST00000373537.2_Missense_Mutation_p.R40W|BLCAP_ENST00000397137.1_Missense_Mutation_p.R40W|BLCAP_ENST00000397131.1_Missense_Mutation_p.R40W|BLCAP_ENST00000397135.1_Missense_Mutation_p.R40W|BLCAP_ENST00000397134.1_Missense_Mutation_p.R40W	NM_001167820.1|NM_001167823.1	NP_001161292.1|NP_001161295.1	P62952	BLCAP_HUMAN	bladder cancer associated protein	40					apoptosis|cell cycle	integral to membrane		p.R40W(1)		breast(1)|large_intestine(1)|lung(2)|stomach(1)	5		Myeloproliferative disorder(115;0.00878)				CAAGGCTTCCGTTCCAGGAGG	0.567													14	16					0	0	1	0	0	A	36147459	G	A	36147459	3	1	81	1	0	0	0	0	1	0	0	0	1441	1144	40	1	149	1	BLCAP	20	36147459	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	262565	36147459	26878061	14232	17848											
NNAT	4826	broad.mit.edu	37	20	36151087	36151087	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:36151087C>T	ENST00000062104.2	+	3	289	c.172C>T	c.(172-174)Cag>Tag	p.Q58*	BLCAP_ENST00000373537.2_Intron|NNAT_ENST00000346199.2_Nonsense_Mutation_p.Q31*|BLCAP_ENST00000414542.2_Intron|BLCAP_ENST00000397137.1_Intron|BLCAP_ENST00000397131.1_Intron|BLCAP_ENST00000397135.1_Intron	NM_005386.2	NP_005377.1	Q16517	NNAT_HUMAN	neuronatin	58					brain development|protein lipoylation|transport					endometrium(1)|kidney(1)|lung(1)	3		Myeloproliferative disorder(115;0.00878)				GTACTCCCTGCAGAAGCTGGC	0.692													4	6					0	0	1	0	0	T	36151087	C	T	36151087	4	4	81	1	0	0	0	0	0	1	0	0	10555	711	25	2	182	2	NNAT	20	36151087	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3628	36151087	26874433	14233	17849											
KIAA1755	85449	broad.mit.edu	37	20	36841593	36841593	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:36841593G>A	ENST00000279024.4	-	14	3725	c.3454C>T	c.(3454-3456)Cat>Tat	p.H1152Y		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	1152										breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				GCAAGCAAATGCTCGCGGGCA	0.647													24	29					0	0	1	0	0	A	36841593	G	A	36841593	3	1	81	1	0	0	0	0	1	0	0	0	8299	1319	46	2	152	2	KIAA1755	20	36841593	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	690506	36841593	26183927	14234	17850											
KIAA1755	85449	broad.mit.edu	37	20	36846682	36846682	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:36846682G>T	ENST00000279024.4	-	12	2914	c.2643C>A	c.(2641-2643)gcC>gcA	p.A881A		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	881										breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				ATTCTGCGTGGGCTTTCTCCA	0.582													7	37					0.248553	0.249876	1	1	0	T	36846682	G	T	36846682	2	4	81	1	0	0	0	0	0	0	0	1	8299	1219	43	5		5	KIAA1755	20	36846682	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	5089	36846682	26178838	14235	17851											
KIAA1755	85449	broad.mit.edu	37	20	36869797	36869797	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:36869797G>A	ENST00000279024.4	-	3	1007	c.736C>T	c.(736-738)Cca>Tca	p.P246S		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	246								p.P246A(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				ATGAGTCCTGGATACTTGCTC	0.592													26	36					0	0	1	0	0	A	36869797	G	A	36869797	3	1	81	1	0	0	0	0	1	0	0	0	8299	1174	41	2	2914	2	KIAA1755	20	36869797	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	23115	36869797	26155723	14236	17852											
BPI	671	broad.mit.edu	37	20	36936031	36936031	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:36936031T>C	ENST00000262865.4	+	2	294	c.205T>C	c.(205-207)Tca>Cca	p.S69P	CTD-2308N23.2_ENST00000437016.1_RNA	NM_001725.2	NP_001716.2	P17213	BPI_HUMAN	bactericidal/permeability-increasing protein	69					defense response to bacterium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of macrophage activation|negative regulation of tumor necrosis factor production	extracellular region|integral to plasma membrane	lipid binding|lipopolysaccharide binding			kidney(1)|large_intestine(6)|lung(15)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	30		Myeloproliferative disorder(115;0.00878)				TCCTGACTACTCAGACAGCTT	0.527													27	55					0	0	1	0	0	C	36936031	T	C	36936031	3	2	81	1	0	0	0	0	1	0	0	0	1492	1551	54	3	211	3	BPI	20	36936031	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	66234	36936031	26089489	14237	17853											
BPI	671	broad.mit.edu	37	20	36962871	36962871	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:36962871A>G	ENST00000262865.4	+	13	1413	c.1324A>G	c.(1324-1326)Att>Gtt	p.I442V	BPI_ENST00000489102.1_3'UTR	NM_001725.2	NP_001716.2	P17213	BPI_HUMAN	bactericidal/permeability-increasing protein	442					defense response to bacterium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of macrophage activation|negative regulation of tumor necrosis factor production	extracellular region|integral to plasma membrane	lipid binding|lipopolysaccharide binding			kidney(1)|large_intestine(6)|lung(15)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	30		Myeloproliferative disorder(115;0.00878)				CATTGTACCCATTCTTGTGCT	0.512													81	128					0	0	1	0	0	G	36962871	A	G	36962871	3	3	81	1	0	0	0	0	1	0	0	0	1492	217	8	3	1374	3	BPI	20	36962871	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	26840	36962871	26062649	14238	17854											
RALGAPB	57148	broad.mit.edu	37	20	37117086	37117086	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:37117086A>G	ENST00000262879.6	+	2	295	c.11A>G	c.(10-12)gAg>gGg	p.E4G	RALGAPB_ENST00000397040.1_Missense_Mutation_p.E4G|RALGAPB_ENST00000397038.1_5'UTR|RALGAPB_ENST00000537204.1_Missense_Mutation_p.E4G|RALGAPB_ENST00000397042.3_Missense_Mutation_p.E4G			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	4					activation of Ral GTPase activity	intracellular	protein heterodimerization activity|Ral GTPase activator activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						ATGTACTCTGAGTGGAGGTCA	0.418													13	79					0	0	1	0	0	G	37117086	A	G	37117086	3	3	81	1	0	0	0	0	1	0	0	0	13067	304	11	3	13	3	RALGAPB	20	37117086	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	154215	37117086	25908434	14239	17855											
PPP1R16B	26051	broad.mit.edu	37	20	37529326	37529326	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:37529326G>T	ENST00000299824.1	+	5	759	c.570G>T	c.(568-570)caG>caT	p.Q190H	PPP1R16B_ENST00000373331.2_Splice_Site_p.Q190H	NM_015568.2	NP_056383.1	Q96T49	PP16B_HUMAN	protein phosphatase 1, regulatory subunit 16B	190					regulation of filopodium assembly|signal transduction	nucleus|plasma membrane	protein phosphatase binding			biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	49		Myeloproliferative disorder(115;0.00878)				TGGCATACCAGGGTAAGGGAG	0.552													12	12					0.00010058	0.000110448	1	1	0	T	37529326	G	T	37529326	5	4	81	1	0	0	0	0	0	0	1	0	12415	1014	35	4	584	4	PPP1R16B	20	37529326	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	412240	37529326	25496194	14240	17856											
FAM83D	81610	broad.mit.edu	37	20	37570622	37570622	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:37570622C>T	ENST00000217429.4	+	2	635	c.594C>T	c.(592-594)gaC>gaT	p.D198D		NM_030919.2	NP_112181.2	Q9H4H8	FA83D_HUMAN	family with sequence similarity 83, member D	168					cell division|mitosis	cytoplasm|spindle pole				endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)|stomach(1)	28		Myeloproliferative disorder(115;0.00878)				TGGTCATGGACGTGTTCACAG	0.488													5	96					0	0	1	0	0	T	37570622	C	T	37570622	2	4	81	1	0	0	0	0	0	0	0	1	5668	535	19	1		1	FAM83D	20	37570622	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	41296	37570622	25454898	14241	17857											
DHX35	60625	broad.mit.edu	37	20	37617553	37617553	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:37617553G>T	ENST00000252011.3	+	5	476	c.443G>T	c.(442-444)aGa>aTa	p.R148I	DHX35_ENST00000373323.4_Missense_Mutation_p.R117I|DHX35_ENST00000373325.2_Missense_Mutation_p.R148I	NM_021931.3	NP_068750.2	Q9H5Z1	DHX35_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 35	148	Helicase ATP-binding.					catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	40		Myeloproliferative disorder(115;0.00878)				CTGGCCACGAGAATTAAGGTA	0.493													21	45					4.96729e-08	5.86596e-08	1	1	0	T	37617553	G	T	37617553	3	4	81	1	0	0	0	0	1	0	0	0	4536	942	33	4	461	4	DHX35	20	37617553	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	46931	37617553	25407967	14242	17858											
DHX35	60625	broad.mit.edu	37	20	37634834	37634834	+	Missense_Mutation	SNP	G	G	A	rs147968535		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:37634834G>A	ENST00000252011.3	+	12	1090	c.1057G>A	c.(1057-1059)Ggc>Agc	p.G353S	DHX35_ENST00000373323.4_Missense_Mutation_p.G322S|DHX35_ENST00000373325.2_Missense_Mutation_p.G353S	NM_021931.3	NP_068750.2	Q9H5Z1	DHX35_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 35	353	Helicase C-terminal.					catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	40		Myeloproliferative disorder(115;0.00878)				CACAATCAGCGGCATTGTGTA	0.458													133	272					0	0	1	0	0	A	37634834	G	A	37634834	3	1	81	1	0	0	0	0	1	0	0	0	4536	1116	39	1	1103	1	DHX35	20	37634834	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	17281	37634834	25390686	14243	17859											
PLCG1	5335	broad.mit.edu	37	20	39793914	39793914	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:39793914C>T	ENST00000373272.2	+	14	1821	c.1416C>T	c.(1414-1416)taC>taT	p.Y472Y	PLCG1_ENST00000244007.3_Silent_p.Y472Y|PLCG1_ENST00000373271.1_Silent_p.Y472Y	NM_002660.2	NP_002651.2	P19174	PLCG1_HUMAN	phospholipase C, gamma 1	472					activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration|T cell receptor signaling pathway	cytosol|lamellipodium|plasma membrane|ruffle	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity			breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2)	46		Myeloproliferative disorder(115;0.00878)				GCAGTGCCTACGAGGAGGTGC	0.562													13	52					0	0	1	0	0	T	39793914	C	T	39793914	2	4	81	1	0	0	0	0	0	0	0	1	12083	547	19	1		1	PLCG1	20	39793914	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2159080	39793914	23231606	14244	17860											
PLCG1	5335	broad.mit.edu	37	20	39794927	39794927	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:39794927C>T	ENST00000373272.2	+	17	2298	c.1893C>T	c.(1891-1893)tcC>tcT	p.S631S	PLCG1_ENST00000244007.3_Silent_p.S631S|PLCG1_ENST00000373271.1_Silent_p.S631S	NM_002660.2	NP_002651.2	P19174	PLCG1_HUMAN	phospholipase C, gamma 1	631	SH2 1.				activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration|T cell receptor signaling pathway	cytosol|lamellipodium|plasma membrane|ruffle	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity			breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2)	46		Myeloproliferative disorder(115;0.00878)				TCTTTGACTCCCTCTATGACC	0.567													4	76					0	0	1	0	0	T	39794927	C	T	39794927	2	4	81	1	0	0	0	0	0	0	0	1	12083	610	22	2		2	PLCG1	20	39794927	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1013	39794927	23230593	14245	17861											
PLCG1	5335	broad.mit.edu	37	20	39796515	39796515	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:39796515T>C	ENST00000373272.2	+	20	2730	c.2325T>C	c.(2323-2325)taT>taC	p.Y775Y	PLCG1_ENST00000244007.3_Silent_p.Y775Y|PLCG1_ENST00000373271.1_Silent_p.Y775Y	NM_002660.2	NP_002651.2	P19174	PLCG1_HUMAN	phospholipase C, gamma 1	775					activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration|T cell receptor signaling pathway	cytosol|lamellipodium|plasma membrane|ruffle	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity			breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2)	46		Myeloproliferative disorder(115;0.00878)				GGGCCCTGTATGAGGGACGCA	0.557													15	22					0	0	1	0	0	C	39796515	T	C	39796515	2	2	81	1	0	0	0	0	0	0	0	1	12083	1471	51	3		3	PLCG1	20	39796515	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	1588	39796515	23229005	14246	17862											
ZHX3	23051	broad.mit.edu	37	20	39830786	39830786	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:39830786G>A	ENST00000309060.3	-	4	3186	c.2771C>T	c.(2770-2772)tCt>tTt	p.S924F	ZHX3_ENST00000540170.1_Missense_Mutation_p.S924F|ZHX3_ENST00000559234.1_Missense_Mutation_p.S924F|ZHX3_ENST00000432768.2_Missense_Mutation_p.S924F|ZHX3_ENST00000544979.2_Intron|ZHX3_ENST00000558993.1_Intron|ZHX3_ENST00000557816.1_Intron|ZHX3_ENST00000560361.1_Missense_Mutation_p.S924F			Q9H4I2	ZHX3_HUMAN	zinc fingers and homeoboxes 3	924					negative regulation of transcription, DNA-dependent	cytoplasm|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(5)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		Myeloproliferative disorder(115;0.00425)				ACTGTTCTCAGACACCTCTGA	0.602													4	116					0	0	1	0	0	A	39830786	G	A	39830786	3	1	81	1	0	0	0	0	1	0	0	0	17735	942	33	2	107	2	ZHX3	20	39830786	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	34271	39830786	23194734	14247	17863											
CHD6	84181	broad.mit.edu	37	20	40033814	40033814	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:40033814G>T	ENST00000373233.3	-	37	7744	c.7567C>A	c.(7567-7569)Cca>Aca	p.P2523T	CHD6_ENST00000480022.1_5'UTR	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	2523					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				GCCATGCCTGGCAGCATCATG	0.597													28	39					1.12875e-08	1.34834e-08	1	1	0	T	40033814	G	T	40033814	3	4	81	1	0	0	0	0	1	0	0	0	3351	1203	42	5	584	5	CHD6	20	40033814	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	203028	40033814	22991706	14248	17864											
CHD6	84181	broad.mit.edu	37	20	40050062	40050062	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:40050062G>T	ENST00000373233.3	-	31	5390	c.5213C>A	c.(5212-5214)tCa>tAa	p.S1738*		NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	1738					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				TTTGCTTATTGAGATGGTAAT	0.453													51	41					1.39843e-22	1.83753e-22	1	1	0	T	40050062	G	T	40050062	4	4	81	1	0	0	0	0	0	1	0	0	3351	1294	45	5	2962	5	CHD6	20	40050062	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	16248	40050062	22975458	14249	17865											
CHD6	84181	broad.mit.edu	37	20	40141510	40141510	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:40141510G>A	ENST00000373233.3	-	5	1004	c.827C>T	c.(826-828)gCc>gTc	p.A276V	CHD6_ENST00000309279.7_Missense_Mutation_p.A276V|CHD6_ENST00000373222.3_Missense_Mutation_p.A311V	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	276					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				CAGTGTAGAGGCTGAGAGTGC	0.502													67	129					0	0	1	0	0	A	40141510	G	A	40141510	3	1	81	1	0	0	0	0	1	0	0	0	3351	1203	42	2	7452	2	CHD6	20	40141510	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	91448	40141510	22884010	14250	17866											
CHD6	84181	broad.mit.edu	37	20	40141613	40141613	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:40141613C>A	ENST00000373233.3	-	5	901	c.724G>T	c.(724-726)Gta>Tta	p.V242L	CHD6_ENST00000309279.7_Missense_Mutation_p.V242L|CHD6_ENST00000373222.3_Missense_Mutation_p.V277L	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	242					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				CTGCGCTTTACTTGCCTTCCC	0.478													28	289					4.34311e-12	5.41059e-12	1	1	0	A	40141613	C	A	40141613	3	1	81	1	0	0	0	0	1	0	0	0	3351	565	20	4	7555	4	CHD6	20	40141613	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	103	40141613	22883907	14251	17867											
CHD6	84181	broad.mit.edu	37	20	40162052	40162052	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:40162052G>T	ENST00000373233.3	-	3	368	c.191C>A	c.(190-192)gCt>gAt	p.A64D	CHD6_ENST00000309279.7_Missense_Mutation_p.A64D|CHD6_ENST00000373222.3_Missense_Mutation_p.A99D	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	64					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				TTCCTCTTCAGCAGTATACAG	0.463													9	69					2.17888e-05	2.43576e-05	1	1	0	T	40162052	G	T	40162052	3	4	81	1	0	0	0	0	1	0	0	0	3351	971	34	4	8096	4	CHD6	20	40162052	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	20439	40162052	22863468	14252	17868											
PTPRT	11122	broad.mit.edu	37	20	40739067	40739067	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:40739067C>T	ENST00000373198.4	-	24	3452	c.3217G>A	c.(3217-3219)Ggc>Agc	p.G1073S	PTPRT_ENST00000373201.1_Missense_Mutation_p.G1044S|PTPRT_ENST00000373193.3_Missense_Mutation_p.G1057S|PTPRT_ENST00000373184.1_Missense_Mutation_p.G1064S|PTPRT_ENST00000373190.1_Missense_Mutation_p.G1053S|PTPRT_ENST00000356100.2_Missense_Mutation_p.G1063S|PTPRT_ENST00000373187.1_Missense_Mutation_p.G1054S	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T		Tyrosine-protein phosphatase 1.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				CAGGGAACGCCGTGGTCAGGC	0.612													3	56					0	0	1	0	0	T	40739067	C	T	40739067	3	4	81	1	0	0	0	0	1	0	0	0	12864	652	23	1	1201	1	PTPRT	20	40739067	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	577015	40739067	22286453	14253	17869											
PTPRT	11122	broad.mit.edu	37	20	41420033	41420033	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:41420033C>A	ENST00000373198.4	-	3	523	c.288G>T	c.(286-288)aaG>aaT	p.K96N	PTPRT_ENST00000373201.1_Missense_Mutation_p.K96N|PTPRT_ENST00000373193.3_Missense_Mutation_p.K96N|PTPRT_ENST00000373184.1_Missense_Mutation_p.K96N|PTPRT_ENST00000373190.1_Missense_Mutation_p.K96N|PTPRT_ENST00000356100.2_Missense_Mutation_p.K96N|PTPRT_ENST00000373187.1_Missense_Mutation_p.K96N	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T		MAM.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				TGTCATTCTCCTTCAGGGTTG	0.567													4	40					0.00024832	0.000269806	1	1	0	A	41420033	C	A	41420033	3	1	81	1	0	0	0	0	1	0	0	0	12864	680	24	4	4214	4	PTPRT	20	41420033	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	680966	41420033	21605487	14254	17870											
SGK2	10110	broad.mit.edu	37	20	42194986	42194986	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:42194986C>T	ENST00000341458.4	+	1	250	c.31C>T	c.(31-33)Ccc>Tcc	p.P11S	SGK2_ENST00000373100.1_Intron|SGK2_ENST00000373077.1_Intron|SGK2_ENST00000373092.3_Intron|SGK2_ENST00000423407.3_Intron|SGK2_ENST00000426287.1_Missense_Mutation_p.P11S	NM_016276.3	NP_057360.2	Q9HBY8	SGK2_HUMAN	serum/glucocorticoid regulated kinase 2	11					intracellular protein kinase cascade|response to oxidative stress		ATP binding|potassium channel regulator activity|protein serine/threonine kinase activity|sodium channel regulator activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			GGGTAGGAAACCCTCAGGCGG	0.577													40	54					0	0	1	0	0	T	42194986	C	T	42194986	3	4	81	1	0	0	0	0	1	0	0	0	14263	507	18	2	33	2	SGK2	20	42194986	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	774953	42194986	20830534	14255	17871											
SGK2	10110	broad.mit.edu	37	20	42213499	42213499	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:42213499C>A	ENST00000373100.1	+	14	1407	c.947C>A	c.(946-948)cCt>cAt	p.P316H	SGK2_ENST00000373077.1_Missense_Mutation_p.P315H|SGK2_ENST00000373092.3_Missense_Mutation_p.P316H|SGK2_ENST00000341458.4_Missense_Mutation_p.P376H|SGK2_ENST00000423407.3_Missense_Mutation_p.P316H|SGK2_ENST00000426287.1_Missense_Mutation_p.P342H			Q9HBY8	SGK2_HUMAN	serum/glucocorticoid regulated kinase 2	376	Protein kinase.				intracellular protein kinase cascade|response to oxidative stress		ATP binding|potassium channel regulator activity|protein serine/threonine kinase activity|sodium channel regulator activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			CAGACAGGACCTGCTGACTTG	0.542													42	123					9.39024e-22	1.23066e-21	1	1	0	A	42213499	C	A	42213499	3	1	81	1	0	0	0	0	1	0	0	0	14263	681	24	4	1173	4	SGK2	20	42213499	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	18513	42213499	20812021	14256	17872											
IFT52	51098	broad.mit.edu	37	20	42232516	42232516	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:42232516C>T	ENST00000373030.3	+	4	454	c.324C>T	c.(322-324)atC>atT	p.I108I	IFT52_ENST00000373039.4_Silent_p.I108I	NM_016004.2	NP_057088.2	Q9Y366	IFT52_HUMAN	intraflagellar transport 52 homolog (Chlamydomonas)	108						intraflagellar transport particle B|microtubule-based flagellum	protein C-terminus binding			endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			AATATGGAATCATGGTTAATA	0.343													18	30					0	0	1	0	0	T	42232516	C	T	42232516	2	4	81	1	0	0	0	0	0	0	0	1	7605	816	29	2		2	IFT52	20	42232516	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	19017	42232516	20793004	14257	17873											
MYBL2	4605	broad.mit.edu	37	20	42344668	42344668	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:42344668C>T	ENST00000217026.4	+	14	2171	c.2044C>T	c.(2044-2046)Cgg>Tgg	p.R682W	MYBL2_ENST00000396863.4_Missense_Mutation_p.R658W	NM_002466.2	NP_002457.1	P10244	MYBB_HUMAN	v-myb avian myeloblastosis viral oncogene homolog-like 2	682						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	46		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			GGAGAAAGCCCGGCAGCTCCT	0.612													54	93					0	0	1	0	0	T	42344668	C	T	42344668	3	4	81	1	0	0	0	0	1	0	0	0	10058	643	23	1	2098	1	MYBL2	20	42344668	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	112152	42344668	20680852	14258	17874											
GTSF1L	149699	broad.mit.edu	37	20	42355251	42355251	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:42355251C>T	ENST00000373003.1	-	1	387	c.84G>A	c.(82-84)tcG>tcA	p.S28S	GTSF1L_ENST00000373005.2_Silent_p.S28S	NM_001008901.1|NM_176791.3	NP_001008901.1|NP_789761.1	Q9H1H1	GTSFL_HUMAN	gametocyte specific factor 1-like	28							metal ion binding			endometrium(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	5		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			TTCTCCTGCACGATGCCAGGT	0.498													42	92					0	0	1	0	0	T	42355251	C	T	42355251	2	4	81	1	0	0	0	0	0	0	0	1	6928	523	19	1		1	GTSF1L	20	42355251	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	10583	42355251	20670269	14259	17875											
HNF4A	3172	broad.mit.edu	37	20	43030050	43030050	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:43030050C>T	ENST00000316099.4	+	1	127	c.38C>T	c.(37-39)gCc>gTc	p.A13V	HNF4A_ENST00000415691.2_Missense_Mutation_p.A13V|HNF4A_ENST00000609795.1_Intron|HNF4A_ENST00000457232.1_Intron|HNF4A_ENST00000443598.2_Missense_Mutation_p.A13V|HNF4A_ENST00000316673.4_Intron	NM_000457.4|NM_001258355.1|NM_178849.2	NP_000448.3|NP_001245284.1|NP_849180.1	P41235	HNF4A_HUMAN	hepatocyte nuclear factor 4, alpha						blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process	cytoplasm	activating transcription factor binding|protein homodimerization activity|receptor binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	34		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			ATGGACATGGCCGACTACAGT	0.637													5	53					0	0	1	0	0	T	43030050	C	T	43030050	3	4	81	1	0	0	0	0	1	0	0	0	7294	739	26	2	93	2	HNF4A	20	43030050	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	674799	43030050	19995470	14260	17876											
TTPAL	79183	broad.mit.edu	37	20	43113129	43113129	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:43113129delT	ENST00000372904.3	+	4	741	c.598delT	c.(598-600)tttfs	p.F200fs	TTPAL_ENST00000262605.4_Frame_Shift_Del_p.F200fs|TTPAL_ENST00000372906.2_Intron	NM_024331.4	NP_077307.2	Q9BTX7	TTPAL_HUMAN	tocopherol (alpha) transfer protein-like	200	CRAL-TRIO.					intracellular	transporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|ovary(2)|skin(5)	18						AGCATCTCACTTTGGCCCTTT	0.458													13	145	---	---	---	---						-	43113129	T	-	43113129	7	5	81	1	0	1	0	1	0	0	0	0	16799	1609	56	0	604	0	TTPAL	20	43113129	Frame_Shift_Del	DEL	T	TCGA-DU-6392-01A-11D-1705-08	83079	43113129	19912391	14261	17877											
SERINC3	10955	broad.mit.edu	37	20	43141617	43141617	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:43141617C>A	ENST00000342374.4	-	3	377	c.220G>T	c.(220-222)Ggg>Tgg	p.G74W	SERINC3_ENST00000541235.1_Missense_Mutation_p.G19W|SERINC3_ENST00000255175.1_Missense_Mutation_p.G74W	NM_006811.2	NP_006802.1	Q13530	SERC3_HUMAN	serine incorporator 3	74						integral to membrane|plasma membrane	protein binding			endometrium(4)|large_intestine(2)|lung(8)|skin(3)|urinary_tract(1)	18		Myeloproliferative disorder(115;0.0122)	Colorectal(3;0.000291)|COAD - Colon adenocarcinoma(18;0.00189)			TTAAATCCCCCTTCACAAAAT	0.393													21	49					1.96292e-10	2.40212e-10	1	1	0	A	43141617	C	A	43141617	3	1	81	1	0	0	0	0	1	0	0	0	14135	681	24	4	1233	4	SERINC3	20	43141617	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	28488	43141617	19883903	14262	17878											
ADA	100	broad.mit.edu	37	20	43249743	43249743	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:43249743C>T	ENST00000372874.4	-	10	1025	c.891G>A	c.(889-891)ccG>ccA	p.P297P	ADA_ENST00000537820.1_Silent_p.P273P|PKIG_ENST00000372882.3_Intron|ADA_ENST00000464097.1_5'UTR|PKIG_ENST00000372887.1_Intron	NM_000022.2	NP_000013.2	P00813	ADA_HUMAN	adenosine deaminase	297			P -> Q (in ADASCID; dbSNP:rs121908718).		adenosine catabolic process|cell adhesion|hypoxanthine salvage|inosine biosynthetic process|negative regulation of adenosine receptor signaling pathway|purine nucleotide salvage|purine ribonucleoside monophosphate biosynthetic process|regulation of cell-cell adhesion mediated by integrin|response to hypoxia|T cell activation	cell junction|cytoplasmic membrane-bounded vesicle lumen|cytosol|external side of plasma membrane|lysosome	adenosine deaminase activity|protein binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|pancreas(2)|prostate(3)|skin(2)|urinary_tract(1)	18		all_lung(126;1.24e-07)|Lung NSC(126;1.94e-07)|Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)		Adenosine(DB00640)|Cladribine(DB00242)|Dipyridamole(DB00975)|Erythromycin(DB00199)|Fludarabine(DB01073)|Idoxuridine(DB00249)|Nelarabine(DB01280)|Pentostatin(DB00552)|Theophylline(DB00277)|Vidarabine(DB00194)	TGAAGATGAGCGGGTCATCTG	0.483									Adenosine Deaminase Deficiency				33	39					0	0	1	0	0	T	43249743	C	T	43249743	2	4	81	1	0	0	0	0	0	0	0	1	229	755	27	1		1	ADA	20	43249743	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	108126	43249743	19775777	14263	17879											
ADA	100	broad.mit.edu	37	20	43251484	43251484	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:43251484T>G	ENST00000372874.4	-	8	900	c.766A>C	c.(766-768)Aac>Cac	p.N256H	ADA_ENST00000537820.1_Missense_Mutation_p.N232H|PKIG_ENST00000372882.3_Intron|ADA_ENST00000464097.1_5'UTR|PKIG_ENST00000372887.1_Intron	NM_000022.2	NP_000013.2	P00813	ADA_HUMAN	adenosine deaminase	256					adenosine catabolic process|cell adhesion|hypoxanthine salvage|inosine biosynthetic process|negative regulation of adenosine receptor signaling pathway|purine nucleotide salvage|purine ribonucleoside monophosphate biosynthetic process|regulation of cell-cell adhesion mediated by integrin|response to hypoxia|T cell activation	cell junction|cytoplasmic membrane-bounded vesicle lumen|cytosol|external side of plasma membrane|lysosome	adenosine deaminase activity|protein binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|pancreas(2)|prostate(3)|skin(2)|urinary_tract(1)	18		all_lung(126;1.24e-07)|Lung NSC(126;1.94e-07)|Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)		Adenosine(DB00640)|Cladribine(DB00242)|Dipyridamole(DB00975)|Erythromycin(DB00199)|Fludarabine(DB01073)|Idoxuridine(DB00249)|Nelarabine(DB01280)|Pentostatin(DB00552)|Theophylline(DB00277)|Vidarabine(DB00194)	AAGTGCATGTTTTCCTGCCGC	0.592									Adenosine Deaminase Deficiency				46	95					0	0	1	0	0	G	43251484	T	G	43251484	3	3	81	1	0	0	0	0	1	0	0	0	229	1841	64	5	345	5	ADA	20	43251484	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	1741	43251484	19774036	14264	17880											
KCNK15	60598	broad.mit.edu	37	20	43374622	43374622	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:43374622C>A	ENST00000372861.3	+	1	202	c.71C>A	c.(70-72)gCt>gAt	p.A24D	RP11-445H22.4_ENST00000445420.1_RNA|RP11-445H22.4_ENST00000427303.1_RNA	NM_022358.3	NP_071753.2	Q9H427	KCNKF_HUMAN	potassium channel, subfamily K, member 15	24						integral to membrane	potassium channel activity|voltage-gated ion channel activity			NS(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(2)	10		Myeloproliferative disorder(115;0.0122)				GTGGGCGCTGCTGTCTTCGAC	0.736													5	4					0.0215528	0.0221217	1	1	0	A	43374622	C	A	43374622	3	1	81	1	0	0	0	0	1	0	0	0	8106	797	28	4	73	4	KCNK15	20	43374622	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	123138	43374622	19650898	14265	17881											
PABPC1L	80336	broad.mit.edu	37	20	43561799	43561799	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:43561799C>T	ENST00000372824.1	+	1	1597	c.79C>T	c.(79-81)Cgc>Tgc	p.R27C	PABPC1L_ENST00000217073.2_Missense_Mutation_p.R473C|PABPC1L_ENST00000372819.1_Missense_Mutation_p.R27C|PABPC1L_ENST00000537323.1_3'UTR|PABPC1L_ENST00000490798.1_Intron|PABPC1L_ENST00000217075.2_Missense_Mutation_p.R27C|PABPC1L_ENST00000255136.3_Missense_Mutation_p.R473C			Q4VXU2	PAP1L_HUMAN	poly(A) binding protein, cytoplasmic 1-like	473	RRM 1.						nucleotide binding|RNA binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	20						CCAGGTGCCACGCACGGTGCC	0.652													7	8					0	0	1	0	0	T	43561799	C	T	43561799	3	4	81	1	0	0	0	0	1	0	0	0	11411	536	19	1	1455	1	PABPC1L	20	43561799	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	187177	43561799	19463721	14266	17882											
TOMM34	10953	broad.mit.edu	37	20	43580536	43580536	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:43580536G>A	ENST00000372813.3	-	4	640	c.488C>T	c.(487-489)tCg>tTg	p.S163L	PABPC1L_ENST00000372819.1_Intron|PABPC1L_ENST00000490798.1_Intron	NM_006809.4	NP_006800.2	Q15785	TOM34_HUMAN	translocase of outer mitochondrial membrane 34	163					protein targeting to mitochondrion	integral to membrane|mitochondrial outer membrane	heat shock protein binding|signal sequence binding	p.S163L(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)	11		Myeloproliferative disorder(115;0.0122)				GTGGTTCTCCGAAGGCAAGGA	0.527													32	58					0	0	1	0	0	A	43580536	G	A	43580536	3	1	81	1	0	0	0	0	1	0	0	0	16417	1059	37	1	457	1	TOMM34	20	43580536	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	18737	43580536	19444984	14267	17883											
TOMM34	10953	broad.mit.edu	37	20	43580603	43580603	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:43580603G>A	ENST00000372813.3	-	4	573	c.421C>T	c.(421-423)Cgc>Tgc	p.R141C	PABPC1L_ENST00000372819.1_Intron|PABPC1L_ENST00000490798.1_Intron	NM_006809.4	NP_006800.2	Q15785	TOM34_HUMAN	translocase of outer mitochondrial membrane 34	141					protein targeting to mitochondrion	integral to membrane|mitochondrial outer membrane	heat shock protein binding|signal sequence binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)	11		Myeloproliferative disorder(115;0.0122)				AGCTTCAGGCGCCACTCAGGC	0.517													14	37					0	0	1	0	0	A	43580603	G	A	43580603	3	1	81	1	0	0	0	0	1	0	0	0	16417	1087	38	1	524	1	TOMM34	20	43580603	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	67	43580603	19444917	14268	17884											
SEMG1	6406	broad.mit.edu	37	20	43836470	43836470	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:43836470G>A	ENST00000372781.3	+	2	589	c.532G>A	c.(532-534)Gtc>Atc	p.V178I	SEMG1_ENST00000244069.6_Missense_Mutation_p.V178I	NM_003007.3	NP_002998.1			semenogelin I											cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	32		Myeloproliferative disorder(115;0.0122)				ACAAACTTCCGTCTCTGGTGC	0.423													8	80					0	0	1	0	0	A	43836470	G	A	43836470	3	1	81	1	0	0	0	0	1	0	0	0	14098	1145	40	1	538	1	SEMG1	20	43836470	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	255867	43836470	19189050	14269	17885											
MATN4	8785	broad.mit.edu	37	20	43926866	43926866	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:43926866G>A	ENST00000537548.1	-	8	1614	c.1370C>T	c.(1369-1371)aCg>aTg	p.T457M	MATN4_ENST00000372751.4_Missense_Mutation_p.T308M|MATN4_ENST00000342716.4_Missense_Mutation_p.T457M|MATN4_ENST00000372756.1_Missense_Mutation_p.T457M|MATN4_ENST00000353917.5_Missense_Mutation_p.T375M|MATN4_ENST00000360607.6_Missense_Mutation_p.T416M|MATN4_ENST00000372754.1_Missense_Mutation_p.T498M			O95460	MATN4_HUMAN	matrilin 4	498	VWFA 2.					extracellular region	protein binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.0122)				GCGGCCATCCGTGAAGACCAG	0.667													18	28					0	0	1	0	0	A	43926866	G	A	43926866	3	1	81	1	0	0	0	0	1	0	0	0	9386	1145	40	1	391	1	MATN4	20	43926866	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	90396	43926866	19098654	14270	17886											
MATN4	8785	broad.mit.edu	37	20	43926995	43926995	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:43926995G>A	ENST00000537548.1	-	8	1485	c.1241C>T	c.(1240-1242)gCc>gTc	p.A414V	MATN4_ENST00000372751.4_Missense_Mutation_p.A265V|MATN4_ENST00000342716.4_Missense_Mutation_p.A414V|MATN4_ENST00000372756.1_Missense_Mutation_p.A414V|MATN4_ENST00000353917.5_Missense_Mutation_p.A332V|MATN4_ENST00000360607.6_Missense_Mutation_p.A373V|MATN4_ENST00000372754.1_Missense_Mutation_p.A455V			O95460	MATN4_HUMAN	matrilin 4	455	VWFA 2.					extracellular region	protein binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.0122)				GTACTCCACGGCCAGGACCGC	0.697													17	20					0	0	1	0	0	A	43926995	G	A	43926995	3	1	81	1	0	0	0	0	1	0	0	0	9386	1203	42	2	520	2	MATN4	20	43926995	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	129	43926995	19098525	14271	17887											
MATN4	8785	broad.mit.edu	37	20	43933260	43933260	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:43933260C>A	ENST00000537548.1	-	4	495	c.251G>T	c.(250-252)aGc>aTc	p.S84I	MATN4_ENST00000372751.4_Intron|MATN4_ENST00000342716.4_Missense_Mutation_p.S84I|MATN4_ENST00000372756.1_Missense_Mutation_p.S84I|MATN4_ENST00000353917.5_Missense_Mutation_p.S84I|MATN4_ENST00000360607.6_Missense_Mutation_p.S84I|MATN4_ENST00000372754.1_Missense_Mutation_p.S84I			O95460	MATN4_HUMAN	matrilin 4	84	VWFA 1.					extracellular region	protein binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.0122)				AGGGAAGACGCTCTGCACTTG	0.652													8	26					1.12685e-05	1.27052e-05	1	1	0	A	43933260	C	A	43933260	3	1	81	1	0	0	0	0	1	0	0	0	9386	797	28	4	1526	4	MATN4	20	43933260	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	6265	43933260	19092260	14272	17888											
RBPJL	11317	broad.mit.edu	37	20	43944893	43944893	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:43944893G>A	ENST00000343694.3	+	10	1159	c.1087G>A	c.(1087-1089)Ggc>Agc	p.G363S	RBPJL_ENST00000372743.1_Missense_Mutation_p.G363S|RBPJL_ENST00000464504.1_Intron|RBPJL_ENST00000372741.3_Missense_Mutation_p.G363S	NM_001281448.1|NM_001281449.1|NM_014276.2	NP_001268377.1|NP_001268378.1|NP_055091.2	Q9UBG7	RBPJL_HUMAN	recombination signal binding protein for immunoglobulin kappa J region-like	363					signal transduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Myeloproliferative disorder(115;0.0122)				GACCATCATCGGCACCGAGTC	0.632													24	50					0	0	1	0	0	A	43944893	G	A	43944893	3	1	81	1	0	0	0	0	1	0	0	0	13214	1116	39	1	1125	1	RBPJL	20	43944893	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	11633	43944893	19080627	14273	17889											
SYS1	90196	broad.mit.edu	37	20	43995598	43995598	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:43995598G>A	ENST00000243918.5	+	4	605	c.314G>A	c.(313-315)gGc>gAc	p.G105D	SYS1_ENST00000479779.1_3'UTR|SYS1-DBNDD2_ENST00000452133.1_Intron|SYS1_ENST00000426004.1_Intron|SYS1_ENST00000414310.1_Missense_Mutation_p.G84D|SYS1-DBNDD2_ENST00000475242.1_Intron|SYS1_ENST00000372727.1_Missense_Mutation_p.G105D	NM_033542.3	NP_291020.1	Q8N2H4	SYS1_HUMAN	SYS1 Golgi-localized integral membrane protein homolog (S. cerevisiae)	105					protein transport	Golgi membrane|integral to membrane				cervix(1)|endometrium(2)|large_intestine(2)|prostate(1)|skin(1)	7		Myeloproliferative disorder(115;0.0122)				CACCTCCTGGGCTGCTGGTTC	0.587													36	48					0	0	1	0	0	A	43995598	G	A	43995598	3	1	81	1	0	0	0	0	1	0	0	0	15521	1203	42	2	324	2	SYS1	20	43995598	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	50705	43995598	19029922	14274	17890											
PIGT	51604	broad.mit.edu	37	20	44047956	44047956	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:44047956G>A	ENST00000279036.6	+	4	595	c.515G>A	c.(514-516)cGc>cAc	p.R172H	PIGT_ENST00000372689.5_Missense_Mutation_p.R172H|PIGT_ENST00000535404.1_Intron|PIGT_ENST00000279035.9_Missense_Mutation_p.R70H|PIGT_ENST00000543458.2_Missense_Mutation_p.R116H|PIGT_ENST00000341555.5_Intron|PIGT_ENST00000545755.1_Intron	NM_015937.5	NP_057021.2	Q969N2	PIGT_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class T	172					attachment of GPI anchor to protein|C-terminal protein lipidation	GPI-anchor transamidase complex	protein binding			breast(1)|endometrium(2)|kidney(5)|large_intestine(4)|lung(7)|pancreas(1)|skin(1)|stomach(1)	22		Myeloproliferative disorder(115;0.0122)				TACTTTCTGCGCTATGCTGTG	0.602													10	24					0	0	1	0	0	A	44047956	G	A	44047956	3	1	81	1	0	0	0	0	1	0	0	0	11947	1087	38	1	529	1	PIGT	20	44047956	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	52358	44047956	18977564	14275	17891											
SPINT4	391253	broad.mit.edu	37	20	44351048	44351048	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:44351048C>A	ENST00000279058.3	+	1	59	c.42C>A	c.(40-42)atC>atA	p.I14I		NM_178455.1	NP_848550.1	Q6UDR6	SPIT4_HUMAN	serine peptidase inhibitor, Kunitz type 4	14						extracellular region	serine-type endopeptidase inhibitor activity			lung(6)|ovary(1)|skin(1)	8		Myeloproliferative disorder(115;0.028)				GATTCTTCATCTTCTGCTCAT	0.413													21	54					4.26978e-12	5.32034e-12	1	1	0	A	44351048	C	A	44351048	2	1	81	1	0	0	0	0	0	0	0	1	15126	903	32	4		4	SPINT4	20	44351048	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	303092	44351048	18674472	14276	17892											
DNTTIP1	116092	broad.mit.edu	37	20	44430695	44430695	+	Splice_Site	SNP	G	G	A	rs147664923		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:44430695G>A	ENST00000372622.3	+	7	624	c.556G>A	c.(556-558)Gta>Ata	p.V186I		NM_052951.2	NP_443183.1	Q9H147	TDIF1_HUMAN	deoxynucleotidyltransferase, terminal, interacting protein 1	186						nucleus				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)	9		Myeloproliferative disorder(115;0.0122)				CGCCGGCATGGTGTGAGTAGG	0.577													20	37					0	0	1	0	0	A	44430695	G	A	44430695	5	1	81	1	0	0	0	0	0	0	1	0	4708	1275	44	2	582	2	DNTTIP1	20	44430695	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	79647	44430695	18594825	14277	17893											
DNTTIP1	116092	broad.mit.edu	37	20	44439805	44439805	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:44439805C>T	ENST00000372622.3	+	13	1029	c.961C>T	c.(961-963)Cgt>Tgt	p.R321C		NM_052951.2	NP_443183.1	Q9H147	TDIF1_HUMAN	deoxynucleotidyltransferase, terminal, interacting protein 1	321						nucleus				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)	9		Myeloproliferative disorder(115;0.0122)				GAATGAGCATCGTGCTGTTGA	0.557													43	54					0	0	1	0	0	T	44439805	C	T	44439805	3	4	81	1	0	0	0	0	1	0	0	0	4708	884	31	1	1011	1	DNTTIP1	20	44439805	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	9110	44439805	18585715	14278	17894											
SNX21	90203	broad.mit.edu	37	20	44463100	44463100	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:44463100A>G	ENST00000372542.1	+	1	567	c.255A>G	c.(253-255)gaA>gaG	p.E85E	SNX21_ENST00000462307.1_Silent_p.E94E|SNX21_ENST00000342644.5_Silent_p.E94E|SNX21_ENST00000491381.1_Silent_p.E94E|SNX21_ENST00000372541.1_Silent_p.E85E|SNX21_ENST00000344780.4_3'UTR			Q969T3	SNX21_HUMAN	sorting nexin family member 21	94					cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|pancreas(1)	7		Myeloproliferative disorder(115;0.0122)				CGTCAGGAGAAGACGCAGGCG	0.667													5	11					0	0	1	0	0	G	44463100	A	G	44463100	2	3	81	1	0	0	0	0	0	0	0	1	14947	69	3	3		3	SNX21	20	44463100	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	23295	44463100	18562420	14279	17895											
ZSWIM3	140831	broad.mit.edu	37	20	44506742	44506742	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:44506742G>A	ENST00000255152.2	+	2	1754	c.1545G>A	c.(1543-1545)gaG>gaA	p.E515E	ZSWIM3_ENST00000454862.2_Silent_p.E509E	NM_080752.3	NP_542790.2	Q96MP5	ZSWM3_HUMAN	zinc finger, SWIM-type containing 3	515							zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	35		Myeloproliferative disorder(115;0.0122)				ATGAGTGGGAGGTGGTACAGA	0.567													14	24					0	0	1	0	0	A	44506742	G	A	44506742	2	1	81	1	0	0	0	0	0	0	0	1	18282	991	35	2		2	ZSWIM3	20	44506742	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	43642	44506742	18518778	14280	17896											
ZSWIM1	90204	broad.mit.edu	37	20	44511609	44511609	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:44511609C>T	ENST00000372523.1	+	2	473	c.378C>T	c.(376-378)gcC>gcT	p.A126A	ZSWIM1_ENST00000372520.1_Silent_p.A126A	NM_080603.4	NP_542170.3	Q9BR11	ZSWM1_HUMAN	zinc finger, SWIM-type containing 1	126							zinc ion binding			breast(1)|endometrium(3)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	13		Myeloproliferative disorder(115;0.028)				AAGGCCTGGCCCAGATGTTCC	0.532													27	36					0	0	1	0	0	T	44511609	C	T	44511609	2	4	81	1	0	0	0	0	0	0	0	1	18280	610	22	2		2	ZSWIM1	20	44511609	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	4867	44511609	18513911	14281	17897											
PLTP	5360	broad.mit.edu	37	20	44531097	44531097	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:44531097C>T	ENST00000542937.1	-	10	1683	c.1149G>A	c.(1147-1149)caG>caA	p.Q383Q	PLTP_ENST00000372420.1_Silent_p.Q275Q|PLTP_ENST00000420868.2_Silent_p.Q268Q|PLTP_ENST00000477313.1_Silent_p.Q363Q|PLTP_ENST00000354050.4_Silent_p.Q311Q|PLTP_ENST00000372431.3_Silent_p.Q363Q			P55058	PLTP_HUMAN	phospholipid transfer protein	363					cellular lipid metabolic process|lipid transport	extracellular region	lipid binding			endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)	21		Myeloproliferative disorder(115;0.0122)				TGCTGGACAGCTGGACCTCAG	0.612													6	115					0	0	1	0	0	T	44531097	C	T	44531097	2	4	81	1	0	0	0	0	0	0	0	1	12162	796	28	2		2	PLTP	20	44531097	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	19488	44531097	18494423	14282	17898											
PCIF1	63935	broad.mit.edu	37	20	44576240	44576240	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:44576240C>T	ENST00000372409.3	+	17	2325	c.1961C>T	c.(1960-1962)gCg>gTg	p.A654V	PCIF1_ENST00000479348.1_3'UTR	NM_022104.3	NP_071387.1	Q9H4Z3	PCIF1_HUMAN	PDX1 C-terminal inhibiting factor 1	654						nucleus				central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	20						GCCAAGTGGGCGCCGACGCCT	0.622													10	27					0	0	1	0	0	T	44576240	C	T	44576240	3	4	81	1	0	0	0	0	1	0	0	0	11627	768	27	1	2019	1	PCIF1	20	44576240	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	45143	44576240	18449280	14283	17899											
PCIF1	63935	broad.mit.edu	37	20	44576322	44576322	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:44576322G>A	ENST00000372409.3	+	17	2407	c.2043G>A	c.(2041-2043)tcG>tcA	p.S681S	PCIF1_ENST00000479348.1_3'UTR	NM_022104.3	NP_071387.1	Q9H4Z3	PCIF1_HUMAN	PDX1 C-terminal inhibiting factor 1	681	Poly-Ser.					nucleus				central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	20						CTTCCTCATCGTCCTCCTCGG	0.667													17	11					0	0	1	0	0	A	44576322	G	A	44576322	2	1	81	1	0	0	0	0	0	0	0	1	11627	1132	40	1		1	PCIF1	20	44576322	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	82	44576322	18449198	14284	17900											
ZNF335	63925	broad.mit.edu	37	20	44581339	44581339	+	Silent	SNP	G	G	A	rs143040607		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:44581339G>A	ENST00000322927.2	-	19	2812	c.2712C>T	c.(2710-2712)ccC>ccT	p.P904P	ZNF335_ENST00000426788.1_Silent_p.P749P	NM_022095.3	NP_071378.1	Q9H4Z2	ZN335_HUMAN	zinc finger protein 335	904					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	51		Myeloproliferative disorder(115;0.0122)				CCTCTCCTGCGGGCTCCTCGC	0.572													26	34					0	0	1	0	0	A	44581339	G	A	44581339	2	1	81	1	0	0	0	0	0	0	0	1	17909	1103	39	1		1	ZNF335	20	44581339	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	5017	44581339	18444181	14285	17901											
ZNF335	63925	broad.mit.edu	37	20	44588001	44588001	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:44588001G>A	ENST00000322927.2	-	15	2192	c.2092C>T	c.(2092-2094)Cgg>Tgg	p.R698W	ZNF335_ENST00000426788.1_Missense_Mutation_p.R543W	NM_022095.3	NP_071378.1	Q9H4Z2	ZN335_HUMAN	zinc finger protein 335	698					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	51		Myeloproliferative disorder(115;0.0122)				TGTCGGCACCGTACGTGCAGG	0.632													14	29					0	0	1	0	0	A	44588001	G	A	44588001	3	1	81	1	0	0	0	0	1	0	0	0	17909	1144	40	1	1992	1	ZNF335	20	44588001	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	6662	44588001	18437519	14286	17902											
MMP9	4318	broad.mit.edu	37	20	44640806	44640806	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:44640806C>T	ENST00000372330.3	+	7	1047	c.1028C>T	c.(1027-1029)gCg>gTg	p.A343V		NM_004994.2	NP_004985.2	P14780	MMP9_HUMAN	matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	343	Fibronectin type-II 3.				collagen catabolic process|macrophage differentiation|positive regulation of keratinocyte migration|proteolysis	extracellular space|proteinaceous extracellular matrix	collagen binding|metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(4)|large_intestine(14)|liver(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	46		Myeloproliferative disorder(115;0.0122)			Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)|Simvastatin(DB00641)	GGCAACTCGGCGGGGGAGCTG	0.632													32	69					0	0	1	0	0	T	44640806	C	T	44640806	3	4	81	1	0	0	0	0	1	0	0	0	9718	768	27	1	1054	1	MMP9	20	44640806	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	52805	44640806	18384714	14287	17903											
SLC12A5	57468	broad.mit.edu	37	20	44665968	44665968	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:44665968C>T	ENST00000243964.3	+	6	654	c.556C>T	c.(556-558)Ctg>Ttg	p.L186L	SLC12A5_ENST00000372315.1_Silent_p.L186L|SLC12A5_ENST00000454036.2_Silent_p.L209L	NM_020708.4	NP_065759.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	209					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	CTGCTTCTACCTGGGCACTAC	0.572													13	30					0	0	1	0	0	T	44665968	C	T	44665968	2	4	81	1	0	0	0	0	0	0	0	1	14441	680	24	2		2	SLC12A5	20	44665968	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	25162	44665968	18359552	14288	17904											
SLC12A5	57468	broad.mit.edu	37	20	44666019	44666019	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:44666019C>A	ENST00000243964.3	+	6	705	c.607C>A	c.(607-609)Ctg>Atg	p.L203M	SLC12A5_ENST00000372315.1_Missense_Mutation_p.L203M|SLC12A5_ENST00000454036.2_Missense_Mutation_p.L226M	NM_020708.4	NP_065759.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	226					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	CATCGAAATCCTGCTGGTAAG	0.577													11	24					0.000978159	0.00104673	1	1	0	A	44666019	C	A	44666019	3	1	81	1	0	0	0	0	1	0	0	0	14441	680	24	4	754	4	SLC12A5	20	44666019	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	51	44666019	18359501	14289	17905											
SLC12A5	57468	broad.mit.edu	37	20	44673721	44673722	+	Frame_Shift_Ins	INS	-	-	A	rs41282782	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:44673721_44673722insA	ENST00000243964.3	+	12	1609_1610	c.1511_1512insA	c.(1510-1515)acggggfs	p.TG504fs	SLC12A5_ENST00000454036.2_Frame_Shift_Ins_p.TG527fs	NM_020708.4	NP_065759.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	527					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	CAGAGCCTCACGGGGGCCCCAC	0.619													15	135	---	---	---	---						A	44673722	-	A	44673721	7	5	81	1	0	1	1	0	0	0	0	0	14441	536	19	0	1682	0	SLC12A5	20	44673721	Frame_Shift_Ins	INS	-	TCGA-DU-6392-01A-11D-1705-08	7702	44673721	18351799	14290	17906											
SLC12A5	57468	broad.mit.edu	37	20	44674605	44674605	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:44674605C>T	ENST00000243964.3	+	13	1756	c.1658C>T	c.(1657-1659)tCc>tTc	p.S553F	SLC12A5_ENST00000454036.2_Missense_Mutation_p.S576F	NM_020708.4	NP_065759.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	576					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	CTCATTGCATCCCTCGACGAG	0.592													35	76					0	0	1	0	0	T	44674605	C	T	44674605	3	4	81	1	0	0	0	0	1	0	0	0	14441	855	30	2	1833	2	SLC12A5	20	44674605	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	884	44674605	18350915	14291	17907											
SLC12A5	57468	broad.mit.edu	37	20	44683580	44683580	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:44683580C>T	ENST00000243964.3	+	21	2803	c.2705C>T	c.(2704-2706)aCc>aTc	p.T902I	SLC12A5_ENST00000454036.2_Missense_Mutation_p.T925I	NM_020708.4	NP_065759.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	925					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	TCAGCTTACACCTATGAGAAG	0.567													7	14					0	0	1	0	0	T	44683580	C	T	44683580	3	4	81	1	0	0	0	0	1	0	0	0	14441	507	18	2	2912	2	SLC12A5	20	44683580	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	8975	44683580	18341940	14292	17908											
NCOA5	57727	broad.mit.edu	37	20	44691373	44691373	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:44691373G>T	ENST00000290231.6	-	8	1470	c.1306C>A	c.(1306-1308)Ctc>Atc	p.L436I		NM_020967.2	NP_066018.1	Q9HCD5	NCOA5_HUMAN	nuclear receptor coactivator 5	436					regulation of transcription, DNA-dependent|transcription, DNA-dependent|translation	nucleus	aminoacyl-tRNA ligase activity|ATP binding			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|skin(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.0122)				AAGAGGCTGAGGATTTTGGCC	0.592													16	132					6.72482e-11	8.27642e-11	1	1	0	T	44691373	G	T	44691373	3	4	81	1	0	0	0	0	1	0	0	0	10279	1000	35	4	437	4	NCOA5	20	44691373	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	7793	44691373	18334147	14293	17909											
NCOA5	57727	broad.mit.edu	37	20	44692146	44692146	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:44692146G>A	ENST00000290231.6	-	7	1167	c.1003C>T	c.(1003-1005)Cgt>Tgt	p.R335C		NM_020967.2	NP_066018.1	Q9HCD5	NCOA5_HUMAN	nuclear receptor coactivator 5	335					regulation of transcription, DNA-dependent|transcription, DNA-dependent|translation	nucleus	aminoacyl-tRNA ligase activity|ATP binding			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|skin(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.0122)				TGGCCCCCACGCACTCCCTCC	0.587													17	25					0	0	1	0	0	A	44692146	G	A	44692146	3	1	81	1	0	0	0	0	1	0	0	0	10279	1087	38	1	744	1	NCOA5	20	44692146	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	773	44692146	18333374	14294	17910											
CD40	958	broad.mit.edu	37	20	44746989	44746989	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:44746989C>T	ENST00000372285.3	+	1	79	c.7C>T	c.(7-9)Cgt>Tgt	p.R3C	CD40_ENST00000372276.3_Missense_Mutation_p.R3C	NM_001250.4	NP_001241.1	P25942	TNR5_HUMAN	CD40 molecule, TNF receptor superfamily member 5	3					B cell proliferation|cellular response to mechanical stimulus|inflammatory response|platelet activation|positive regulation of endothelial cell apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein complex assembly	CD40 receptor complex|extracellular region	enzyme binding|receptor activity			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10		Myeloproliferative disorder(115;0.0122)			Simvastatin(DB00641)	CGCTATGGTTCGTCTGCCTCT	0.652									Immune Deficiency with Hyper-IgM				13	15					0	0	1	0	0	T	44746989	C	T	44746989	3	4	81	1	0	0	0	0	1	0	0	0	3037	884	31	1	9	1	CD40	20	44746989	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	54843	44746989	18278531	14295	17911											
SLC35C2	51006	broad.mit.edu	37	20	44983845	44983845	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:44983845G>A	ENST00000372227.1	-	6	984	c.444C>T	c.(442-444)gcC>gcT	p.A148A	SLC35C2_ENST00000317734.8_Intron|SLC35C2_ENST00000543605.1_Silent_p.A177A|SLC35C2_ENST00000372230.5_Silent_p.A148A|SLC35C2_ENST00000243896.2_Silent_p.A148A|SLC35C2_ENST00000372229.1_Silent_p.A15A	NM_001281458.1|NM_001281460.1	NP_001268387.1|NP_001268389.1	Q9NQQ7	S35C2_HUMAN	solute carrier family 35 (GDP-fucose transporter), member C2	148					transport	integral to membrane				cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)	16		Myeloproliferative disorder(115;0.0122)				AGAGACCCCCGGCGATGAGGA	0.607													12	23					0	0	1	0	0	A	44983845	G	A	44983845	2	1	81	1	0	0	0	0	0	0	0	1	14635	1103	39	1		1	SLC35C2	20	44983845	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	236856	44983845	18041675	14296	17912											
ELMO2	63916	broad.mit.edu	37	20	45000096	45000096	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:45000096G>A	ENST00000372176.1	-	19	1900	c.1432C>T	c.(1432-1434)Cgg>Tgg	p.R478W	ELMO2_ENST00000454865.2_Missense_Mutation_p.R298W|ELMO2_ENST00000396391.1_Missense_Mutation_p.R566W|ELMO2_ENST00000439931.2_Missense_Mutation_p.R578W|ELMO2_ENST00000352077.2_Missense_Mutation_p.R564W|ELMO2_ENST00000445496.2_Missense_Mutation_p.R383W|ELMO2_ENST00000290246.6_Missense_Mutation_p.R566W			Q96JJ3	ELMO2_HUMAN	engulfment and cell motility 2	566	ELMO.				apoptosis|cell chemotaxis|phagocytosis	cytoskeleton|cytosol|membrane	lyase activity|receptor tyrosine kinase binding|SH3 domain binding			breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|urinary_tract(1)	16		Myeloproliferative disorder(115;0.0122)				TACCAGAACCGTTCTGGAACA	0.557													26	30					0	0	1	0	0	A	45000096	G	A	45000096	3	1	81	1	0	0	0	0	1	0	0	0	5094	1144	40	1	482	1	ELMO2	20	45000096	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	16251	45000096	18025424	14297	17913											
ZNF334	55713	broad.mit.edu	37	20	45130708	45130708	+	Nonsense_Mutation	SNP	G	G	A	rs143794973		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:45130708G>A	ENST00000457685.2	-	6	2479	c.1156C>T	c.(1156-1158)Cga>Tga	p.R386*	ZNF334_ENST00000347606.4_Nonsense_Mutation_p.R424*|ZNF334_ENST00000593880.1_Nonsense_Mutation_p.R447*			Q9HCZ1	ZN334_HUMAN	zinc finger protein 334	424					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)				TGACTTCTTCGATGCACATTG	0.418													59	91					0	0	1	0	0	A	45130708	G	A	45130708	4	1	81	1	0	0	0	0	0	1	0	0	17908	1066	37	1	776	1	ZNF334	20	45130708	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	130612	45130708	17894812	14298	17914											
ZNF334	55713	broad.mit.edu	37	20	45131588	45131588	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:45131588T>G	ENST00000457685.2	-	6	1599	c.276A>C	c.(274-276)agA>agC	p.R92S	ZNF334_ENST00000347606.4_Missense_Mutation_p.R130S|ZNF334_ENST00000593880.1_Missense_Mutation_p.R153S			Q9HCZ1	ZN334_HUMAN	zinc finger protein 334	130					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)				AGGGCATTTTTCTTGAGGGAA	0.343													24	45					0	0	1	0	0	G	45131588	T	G	45131588	3	3	81	1	0	0	0	0	1	0	0	0	17908	1780	62	5	1656	5	ZNF334	20	45131588	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	880	45131588	17893932	14299	17915											
ZNF334	55713	broad.mit.edu	37	20	45132871	45132871	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:45132871A>T	ENST00000457685.2	-	5	1432	c.109T>A	c.(109-111)Tca>Aca	p.S37T	ZNF334_ENST00000347606.4_Missense_Mutation_p.S75T|ZNF334_ENST00000593880.1_Missense_Mutation_p.S98T			Q9HCZ1	ZN334_HUMAN	zinc finger protein 334	75	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)				TTCTGATTTGAGAATTCCTCC	0.413													5	57					0	0	1	0	0	T	45132871	A	T	45132871	3	4	81	1	0	0	0	0	1	0	0	0	17908	304	11	5	1827	5	ZNF334	20	45132871	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	1283	45132871	17892649	14300	17916											
EYA2	2139	broad.mit.edu	37	20	45809567	45809567	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:45809567A>G	ENST00000327619.5	+	14	1792	c.1418A>G	c.(1417-1419)tAc>tGc	p.Y473C	EYA2_ENST00000317304.6_Missense_Mutation_p.Y443C|EYA2_ENST00000357410.3_Intron	NM_005244.4	NP_005235.3	O00167	EYA2_HUMAN	eyes absent homolog 2 (Drosophila)	473					DNA repair|histone dephosphorylation|mesodermal cell fate specification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	magnesium ion binding|protein binding|protein tyrosine phosphatase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0241)				GAGAACATCTACAGTGCAACC	0.527													20	11					0	0	1	0	0	G	45809567	A	G	45809567	3	3	81	1	0	0	0	0	1	0	0	0	5357	391	14	3	1468	3	EYA2	20	45809567	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	676696	45809567	17215953	14301	17917											
NCOA3	8202	broad.mit.edu	37	20	46279728	46279728	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:46279728G>T	ENST00000372004.3	+	20	3858	c.3642G>T	c.(3640-3642)caG>caT	p.Q1214H	NCOA3_ENST00000371998.3_Missense_Mutation_p.Q1218H|NCOA3_ENST00000341724.6_Missense_Mutation_p.Q1144H|NCOA3_ENST00000371997.3_Missense_Mutation_p.Q1209H	NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2	NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1	Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	1218	Acetyltransferase.				androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding			breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						GGTATTAGCAGGGTTTTCTTA	0.453													5	90					0.014758	0.0152304	1	1	0	T	46279728	G	T	46279728	3	4	81	1	0	0	0	0	1	0	0	0	10277	1014	35	4	3754	4	NCOA3	20	46279728	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	470161	46279728	16745792	14302	17918											
SULF2	55959	broad.mit.edu	37	20	46292287	46292287	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:46292287G>A	ENST00000359930.4	-	16	2988	c.2137C>T	c.(2137-2139)Cgc>Tgc	p.R713C	SULF2_ENST00000467815.1_Missense_Mutation_p.R713C|SULF2_ENST00000484875.1_Missense_Mutation_p.R713C|SULF2_ENST00000361612.4_Missense_Mutation_p.R713C	NM_018837.3	NP_061325.1	Q8IWU5	SULF2_HUMAN	sulfatase 2	713					bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						TTCTGCAGGCGCTTGAGCAGC	0.607											OREG0026005	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	47	66					0	0	1	0	0	A	46292287	G	A	46292287	3	1	81	1	0	0	0	0	1	0	0	0	15427	1087	38	1	499	1	SULF2	20	46292287	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	12559	46292287	16733233	14303	17919											
SULF2	55959	broad.mit.edu	37	20	46318928	46318928	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:46318928C>T	ENST00000359930.4	-	5	1530	c.679G>A	c.(679-681)Ggc>Agc	p.G227S	SULF2_ENST00000467815.1_Missense_Mutation_p.G227S|SULF2_ENST00000484875.1_Missense_Mutation_p.G227S|SULF2_ENST00000361612.4_Missense_Mutation_p.G227S	NM_018837.3	NP_061325.1	Q8IWU5	SULF2_HUMAN	sulfatase 2	227					bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						TCCTCAGGGCCGTGGGGGGCT	0.567													19	27					0	0	1	0	0	T	46318928	C	T	46318928	3	4	81	1	0	0	0	0	1	0	0	0	15427	652	23	1	2001	1	SULF2	20	46318928	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	26641	46318928	16706592	14304	17920											
PREX1	57580	broad.mit.edu	37	20	47242458	47242458	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:47242458G>A	ENST00000371941.3	-	40	4967	c.4945C>T	c.(4945-4947)Cgc>Tgc	p.R1649C	PREX1_ENST00000396220.1_3'UTR	NM_020820.3	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	1649					actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			TGGCAGAGGCGGTAGAGGCTG	0.587													4	6					0	0	1	0	0	A	47242458	G	A	47242458	3	1	81	1	0	0	0	0	1	0	0	0	12528	1116	39	1	38	1	PREX1	20	47242458	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	923530	47242458	15783062	14305	17921	89	2									
PREX1	57580	broad.mit.edu	37	20	47242464	47242464	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:47242464G>T	ENST00000371941.3	-	40	4961	c.4939C>A	c.(4939-4941)Ctc>Atc	p.L1647I	PREX1_ENST00000396220.1_3'UTR	NM_020820.3	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	1647					actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			AGGCGGTAGAGGCTGGGGATG	0.582													4	5					0.217242	0.218703	1	1	0	T	47242464	G	T	47242464	5	4	81	1	0	0	0	0	0	0	1	0	12528	1014	35	4	44	4	PREX1	20	47242464	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	6	47242464	15783056	14306	17922	89	2									
PREX1	57580	broad.mit.edu	37	20	47269912	47269912	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:47269912C>T	ENST00000396220.1	-	20	2355	c.2333G>A	c.(2332-2334)cGc>cAc	p.R778H	PREX1_ENST00000371941.3_Missense_Mutation_p.R778H			Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	778					actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			GGCCTCTTCGCGCCGACTCCG	0.577													52	80					0	0	1	0	0	T	47269912	C	T	47269912	3	4	81	1	0	0	0	0	1	0	0	0	12528	768	27	1	2730	1	PREX1	20	47269912	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	27448	47269912	15755608	14307	17923											
PREX1	57580	broad.mit.edu	37	20	47309244	47309244	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:47309244T>G	ENST00000396220.1	-	8	1024	c.1002A>C	c.(1000-1002)gaA>gaC	p.E334D	PREX1_ENST00000371941.3_Missense_Mutation_p.E334D			Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	334	PH.				actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			CCTCCATGACTTCAGTGTTGA	0.577													9	55					0	0	1	0	0	G	47309244	T	G	47309244	3	3	81	1	0	0	0	0	1	0	0	0	12528	1606	56	5	4109	5	PREX1	20	47309244	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	39332	47309244	15716276	14308	17924											
STAU1	6780	broad.mit.edu	37	20	47734473	47734473	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:47734473C>A	ENST00000371828.3	-	11	1612	c.1125G>T	c.(1123-1125)acG>acT	p.T375T	STAU1_ENST00000371856.2_Silent_p.T450T|STAU1_ENST00000340954.7_Silent_p.T369T|STAU1_ENST00000347458.5_Silent_p.T369T|STAU1_ENST00000371792.1_Silent_p.T367T|STAU1_ENST00000360426.4_Silent_p.T369T|STAU1_ENST00000371802.1_Silent_p.T375T	NM_001037328.1|NM_004602.2	NP_001032405.1|NP_004593.2	O95793	STAU1_HUMAN	staufen double-stranded RNA binding protein 1	450				QPTKPALKSEEKTPIKKPGDGRKVTFFEPGSGD -> SHQT RTQVRGEDTHKETRGWKKSNLFLNLALGM (in Ref. 2).		microtubule associated complex|rough endoplasmic reticulum|stress granule	double-stranded RNA binding			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	23			BRCA - Breast invasive adenocarcinoma(12;0.000644)|Colorectal(8;0.198)			TGGCAGTTACCGTGGCCTTGG	0.542													11	93					2.80697e-09	3.37799e-09	1	1	0	A	47734473	C	A	47734473	2	1	81	1	0	0	0	0	0	0	0	1	15328	639	23	5		5	STAU1	20	47734473	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	425229	47734473	15291047	14309	17925											
STAU1	6780	broad.mit.edu	37	20	47736634	47736634	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:47736634G>A	ENST00000371828.3	-	9	1260	c.773C>T	c.(772-774)aCg>aTg	p.T258M	STAU1_ENST00000371856.2_Missense_Mutation_p.T333M|STAU1_ENST00000340954.7_Missense_Mutation_p.T252M|STAU1_ENST00000347458.5_Missense_Mutation_p.T252M|STAU1_ENST00000371792.1_Missense_Mutation_p.T250M|STAU1_ENST00000360426.4_Missense_Mutation_p.T252M|STAU1_ENST00000371802.1_Missense_Mutation_p.T258M	NM_001037328.1|NM_004602.2	NP_001032405.1|NP_004593.2	O95793	STAU1_HUMAN	staufen double-stranded RNA binding protein 1	333						microtubule associated complex|rough endoplasmic reticulum|stress granule	double-stranded RNA binding			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	23			BRCA - Breast invasive adenocarcinoma(12;0.000644)|Colorectal(8;0.198)			GTTGGTGCCCGTTCCTTCTGC	0.527													4	37					0	0	1	0	0	A	47736634	G	A	47736634	3	1	81	1	0	0	0	0	1	0	0	0	15328	1145	40	1	759	1	STAU1	20	47736634	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2161	47736634	15288886	14310	17926											
DDX27	55661	broad.mit.edu	37	20	47850160	47850160	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:47850160G>A	ENST00000371764.4	+	11	1289	c.1280G>A	c.(1279-1281)aGc>aAc	p.S427N	DDX27_ENST00000484427.1_3'UTR	NM_017895.7	NP_060365.7	Q96GQ7	DDX27_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 27	427						nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	45			BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			TTTGTGAACAGCAACACAGAT	0.557													36	85					0	0	1	0	0	A	47850160	G	A	47850160	3	1	81	1	0	0	0	0	1	0	0	0	4377	971	34	2	1322	2	DDX27	20	47850160	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	113526	47850160	15175360	14311	17927											
DDX27	55661	broad.mit.edu	37	20	47858511	47858512	+	Frame_Shift_Ins	INS	-	-	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:47858511_47858512insG	ENST00000371764.4	+	17	2081_2082	c.2072_2073insG	c.(2071-2076)aaggggfs	p.KG691fs	ZNFX1_ENST00000469991.1_Intron|ZNFX1_ENST00000371754.4_Intron|DDX27_ENST00000484427.1_3'UTR	NM_017895.7	NP_060365.7	Q96GQ7	DDX27_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 27	691						nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	45			BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			GCCAAAAAAAAGGGGGAGATGA	0.51													36	67	---	---	---	---						G	47858512	-	G	47858511	7	5	81	1	0	1	1	0	0	0	0	0	4377	72	3	0	2138	0	DDX27	20	47858511	Frame_Shift_Ins	INS	-	TCGA-DU-6392-01A-11D-1705-08	8351	47858511	15167009	14312	17928											
DDX27	55661	broad.mit.edu	37	20	47858647	47858647	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:47858647C>A	ENST00000371764.4	+	18	2122	c.2113C>A	c.(2113-2115)Ctc>Atc	p.L705I	ZNFX1_ENST00000371754.4_Intron|DDX27_ENST00000484427.1_3'UTR|ZNFX1_ENST00000469991.1_Intron	NM_017895.7	NP_060365.7	Q96GQ7	DDX27_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 27	705						nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	45			BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			GTTTGAAATCCTCAAGGCGCA	0.602													5	92					1.23904e-05	1.39156e-05	1	1	0	A	47858647	C	A	47858647	3	1	81	1	0	0	0	0	1	0	0	0	4377	681	24	4	2183	4	DDX27	20	47858647	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	136	47858647	15166873	14313	17929											
ZNFX1	57169	broad.mit.edu	37	20	47865567	47865567	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:47865567G>A	ENST00000396105.1	-	14	4240	c.3994C>T	c.(3994-3996)Cgg>Tgg	p.R1332W	ZNFX1_ENST00000371754.4_Intron|ZNFX1_ENST00000371752.1_Missense_Mutation_p.R1332W	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	1332							metal ion binding			cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			AGGGGACACCGGTGCCCTTCC	0.552													44	45					0	0	1	0	0	A	47865567	G	A	47865567	3	1	81	1	0	0	0	0	1	0	0	0	18247	1115	39	1	1766	1	ZNFX1	20	47865567	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	6920	47865567	15159953	14314	17930											
ZNFX1	57169	broad.mit.edu	37	20	47866162	47866162	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:47866162C>A	ENST00000396105.1	-	14	3645	c.3399G>T	c.(3397-3399)gaG>gaT	p.E1133D	ZNFX1_ENST00000371754.4_Intron|ZNFX1_ENST00000371752.1_Missense_Mutation_p.E1133D	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	1133							metal ion binding			cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			CAAAGTGAGCCTCATGCTGGT	0.502													7	97					1.12685e-05	1.27052e-05	1	1	0	A	47866162	C	A	47866162	3	1	81	1	0	0	0	0	1	0	0	0	18247	680	24	4	2361	4	ZNFX1	20	47866162	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	595	47866162	15159358	14315	17931											
ZNFX1	57169	broad.mit.edu	37	20	47868156	47868156	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:47868156G>A	ENST00000396105.1	-	13	3466	c.3220C>T	c.(3220-3222)Cgt>Tgt	p.R1074C	ZNFX1_ENST00000371754.4_Missense_Mutation_p.R1074C|ZNFX1_ENST00000371752.1_Missense_Mutation_p.R1074C	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	1074							metal ion binding			cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			GGGCACATACGGTGCTGAAAA	0.433													5	16					0	0	1	0	0	A	47868156	G	A	47868156	3	1	81	1	0	0	0	0	1	0	0	0	18247	1116	39	1	2544	1	ZNFX1	20	47868156	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1994	47868156	15157364	14316	17932											
PTGIS	5740	broad.mit.edu	37	20	48140673	48140673	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:48140673G>A	ENST00000244043.4	-	6	806	c.777C>T	c.(775-777)taC>taT	p.Y259Y	PTGIS_ENST00000478971.1_5'UTR	NM_000961.3	NP_000952.1	Q16647	PTGIS_HUMAN	prostaglandin I2 (prostacyclin) synthase	259					hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|prostaglandin-I synthase activity			endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|ovary(3)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(12;2.37e-05)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		Phenylbutazone(DB00812)	GGTGCAGCAGGTAACTCTCCA	0.617													22	45					0	0	1	0	0	A	48140673	G	A	48140673	2	1	81	1	0	0	0	0	0	0	0	1	12802	1256	44	2		2	PTGIS	20	48140673	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	272517	48140673	14884847	14317	17933											
TMEM189	387521	broad.mit.edu	37	20	48699376	48699376	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:48699376G>A	ENST00000557021.1	-	8	1202	c.1042C>T	c.(1042-1044)Cgg>Tgg	p.R348W	UBE2V1_ENST00000371657.5_Missense_Mutation_p.R83W|UBE2V1_ENST00000415862.2_Missense_Mutation_p.R81W|TMEM189-UBE2V1_ENST00000341698.2_Missense_Mutation_p.R348W|UBE2V1_ENST00000371677.3_Missense_Mutation_p.R148W|UBE2V1_ENST00000396059.3_5'UTR|UBE2V1_ENST00000420027.2_Missense_Mutation_p.R81W|UBE2V1_ENST00000340309.3_Missense_Mutation_p.R148W|UBE2V1_ENST00000371674.3_Missense_Mutation_p.R125W	NM_199203.2	NP_954673			transmembrane protein 189											breast(1)|endometrium(2)|large_intestine(3)|lung(2)	8			BRCA - Breast invasive adenocarcinoma(9;3.02e-07)			ATTAGGCGCCGAAGCTCTTGC	0.443													38	50					0	0	1	0	0	A	48699376	G	A	48699376	3	1	81	1	0	0	0	0	1	0	0	0	16171	1057	37	1		1	TMEM189	20	48699376	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	558703	48699376	14326144	14318	17934											
TMEM189	387521	broad.mit.edu	37	20	48760145	48760145	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:48760145C>A	ENST00000557021.1	-	2	295	c.135G>T	c.(133-135)caG>caT	p.Q45H	TMEM189-UBE2V1_ENST00000341698.2_Missense_Mutation_p.Q45H|TMEM189_ENST00000371652.4_Missense_Mutation_p.Q45H|TMEM189_ENST00000371650.5_Missense_Mutation_p.Q45H	NM_199203.2	NP_954673			transmembrane protein 189											breast(1)|endometrium(2)|large_intestine(3)|lung(2)	8			BRCA - Breast invasive adenocarcinoma(9;3.02e-07)			AGCACCACTCCTGGAGGCGCT	0.587													10	17					5.16669e-11	6.3748e-11	1	1	0	A	48760145	C	A	48760145	3	1	81	1	0	0	0	0	1	0	0	0	16171	680	24	4	697	4	TMEM189	20	48760145	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	60769	48760145	14265375	14319	17935											
CEBPB	1051	broad.mit.edu	37	20	48808604	48808604	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:48808604G>A	ENST00000303004.3	+	1	1229	c.1034G>A	c.(1033-1035)tGc>tAc	p.C345Y		NM_005194.3	NP_005185.2	P17676	CEBPB_HUMAN	CCAAT/enhancer binding protein (C/EBP), beta	345					acute-phase response|immune response		sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|lung(1)	2			BRCA - Breast invasive adenocarcinoma(9;5.72e-08)|STAD - Stomach adenocarcinoma(23;0.19)			TCCGGCCACTGCTAgcgcggc	0.776													3	4					0	0	1	0	0	A	48808604	G	A	48808604	3	1	81	1	0	0	0	0	1	0	0	0	3222	1319	46	2	1036	2	CEBPB	20	48808604	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	48459	48808604	14216916	14320	17936											
FAM65C	140876	broad.mit.edu	37	20	49247380	49247380	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:49247380G>A	ENST00000327979.2	-	2	416	c.5C>T	c.(4-6)tCg>tTg	p.S2L	FAM65C_ENST00000535356.1_Missense_Mutation_p.S6L|FAM65C_ENST00000045083.2_Missense_Mutation_p.S2L			Q96MK2	FA65C_HUMAN	family with sequence similarity 65, member C	2										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(1)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CAACCTCACCGACATGGTGGT	0.662													4	7					0	0	1	0	0	A	49247380	G	A	49247380	3	1	81	1	0	0	0	0	1	0	0	0	5636	1059	37	1	2919	1	FAM65C	20	49247380	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	438776	49247380	13778140	14321	17937											
ADNP	23394	broad.mit.edu	37	20	49508536	49508536	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:49508536G>A	ENST00000396029.3	-	5	3282	c.2715C>T	c.(2713-2715)aaC>aaT	p.N905N	ADNP_ENST00000349014.3_Silent_p.N905N|ADNP_ENST00000371602.4_Silent_p.N905N|ADNP_ENST00000396032.3_Silent_p.N905N	NM_001282531.1|NM_015339.2	NP_001269460.1|NP_056154.1	Q9H2P0	ADNP_HUMAN	activity-dependent neuroprotector homeobox	905						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(4)|endometrium(7)|kidney(1)|large_intestine(13)|lung(7)|ovary(2)|prostate(2)|skin(2)	39						CTGGGTTATCGTTAGAGATTT	0.388													68	104					0	0	1	0	0	A	49508536	G	A	49508536	2	1	81	1	0	0	0	0	0	0	0	1	322	1136	40	1		1	ADNP	20	49508536	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	261156	49508536	13516984	14322	17938											
DPM1	8813	broad.mit.edu	37	20	49551717	49551717	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:49551717T>A	ENST00000371582.4	-	10	847	c.816A>T	c.(814-816)gaA>gaT	p.E272D	DPM1_ENST00000371583.5_Missense_Mutation_p.E240D|DPM1_ENST00000371588.5_Missense_Mutation_p.E245D|DPM1_ENST00000466152.1_5'UTR|RP5-914P20.5_ENST00000558899.2_RNA			O60762	DPM1_HUMAN	dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit	245					C-terminal protein lipidation|dolichol metabolic process|dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|protein N-linked glycosylation via asparagine|protein O-linked mannosylation	dolichol-phosphate-mannose synthase complex|endoplasmic reticulum membrane|membrane fraction	dolichyl-phosphate beta-D-mannosyltransferase activity|dolichyl-phosphate-mannose-protein mannosyltransferase activity|protein binding			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	7						AAGATACTATTTCATTTCCTC	0.284													6	85					0	0	1	0	0	A	49551717	T	A	49551717	3	1	81	1	0	0	0	0	1	0	0	0	4750	1838	64	5	51	5	DPM1	20	49551717	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	43181	49551717	13473803	14323	17939											
DPM1	8813	broad.mit.edu	37	20	49562425	49562425	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:49562425C>A	ENST00000371582.4	-	4	362	c.331G>T	c.(331-333)Gga>Tga	p.G111*	DPM1_ENST00000371583.5_Nonsense_Mutation_p.G111*|DPM1_ENST00000371588.5_Nonsense_Mutation_p.G111*|DPM1_ENST00000466152.1_5'UTR			O60762	DPM1_HUMAN	dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit	111					C-terminal protein lipidation|dolichol metabolic process|dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|protein N-linked glycosylation via asparagine|protein O-linked mannosylation	dolichol-phosphate-mannose synthase complex|endoplasmic reticulum membrane|membrane fraction	dolichyl-phosphate beta-D-mannosyltransferase activity|dolichyl-phosphate-mannose-protein mannosyltransferase activity|protein binding			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	7						ATGTAGTTTCCTGTGGCATGT	0.323													23	37					2.41591e-17	3.11509e-17	1	1	0	A	49562425	C	A	49562425	4	1	81	1	0	0	0	0	0	1	0	0	4750	690	24	4	475	4	DPM1	20	49562425	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	10708	49562425	13463095	14324	17940											
NFATC2	4773	broad.mit.edu	37	20	50071118	50071118	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:50071118C>T	ENST00000371564.3	-	6	2035	c.1816G>A	c.(1816-1818)Gag>Aag	p.E606K	NFATC2_ENST00000610033.1_Missense_Mutation_p.E387K|NFATC2_ENST00000609943.1_Missense_Mutation_p.E586K|NFATC2_ENST00000609507.1_Missense_Mutation_p.E387K|NFATC2_ENST00000414705.1_Missense_Mutation_p.E586K|NFATC2_ENST00000396009.3_Missense_Mutation_p.E606K	NM_001258296.1|NM_012340.4	NP_001245225.1|NP_036472.2	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2	606					B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity		EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					ACTTTGGACTCGGATGTAAAG	0.478													56	77					0	0	1	0	0	T	50071118	C	T	50071118	3	4	81	1	0	0	0	0	1	0	0	0	10409	893	31	1	1029	1	NFATC2	20	50071118	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	508693	50071118	12954402	14325	17941											
NFATC2	4773	broad.mit.edu	37	20	50140512	50140512	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:50140512C>A	ENST00000371564.3	-	2	487	c.268G>T	c.(268-270)Gat>Tat	p.D90Y	NFATC2_ENST00000610033.1_Intron|NFATC2_ENST00000609943.1_Missense_Mutation_p.D70Y|NFATC2_ENST00000609507.1_Intron|NFATC2_ENST00000414705.1_Missense_Mutation_p.D70Y|NFATC2_ENST00000396009.3_Missense_Mutation_p.D90Y	NM_001258296.1|NM_012340.4	NP_001245225.1|NP_036472.2	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2	90					B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity	p.D90Y(1)	EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					CCTACCCTATCCGGCTCTCCG	0.647													9	69					1.76689e-08	2.10148e-08	1	1	0	A	50140512	C	A	50140512	3	1	81	1	0	0	0	0	1	0	0	0	10409	855	30	5	2593	5	NFATC2	20	50140512	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	69394	50140512	12885008	14326	17942											
ATP9A	10079	broad.mit.edu	37	20	50221543	50221543	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:50221543G>A	ENST00000338821.5	-	27	3084	c.2820C>T	c.(2818-2820)taC>taT	p.Y940Y	ATP9A_ENST00000311637.5_Silent_p.Y804Y|ATP9A_ENST00000402822.1_Silent_p.Y819Y	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	940					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						GCAGCGCCCCGTACATGATGG	0.612													10	10					0	0	1	0	0	A	50221543	G	A	50221543	2	1	81	1	0	0	0	0	0	0	0	1	1196	1140	40	1		1	ATP9A	20	50221543	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	81031	50221543	12803977	14327	17943											
ATP9A	10079	broad.mit.edu	37	20	50273579	50273579	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:50273579G>A	ENST00000338821.5	-	14	1668	c.1404C>T	c.(1402-1404)aaC>aaT	p.N468N	ATP9A_ENST00000311637.5_Silent_p.N332N|ATP9A_ENST00000402822.1_Silent_p.N347N	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	468					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						CGGGAGTCACGTTGTGGCAGA	0.627													3	30					0	0	1	0	0	A	50273579	G	A	50273579	2	1	81	1	0	0	0	0	0	0	0	1	1196	1136	40	1		1	ATP9A	20	50273579	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	52036	50273579	12751941	14328	17944											
ATP9A	10079	broad.mit.edu	37	20	50292706	50292706	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:50292706G>A	ENST00000338821.5	-	10	1105	c.841C>T	c.(841-843)Cgg>Tgg	p.R281W	ATP9A_ENST00000311637.5_Missense_Mutation_p.R145W|ATP9A_ENST00000402822.1_Missense_Mutation_p.R160W	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	281					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						ATGACACTCCGGAGTTCTCTG	0.443													5	38					0	0	1	0	0	A	50292706	G	A	50292706	3	1	81	1	0	0	0	0	1	0	0	0	1196	1115	39	1	2378	1	ATP9A	20	50292706	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	19127	50292706	12732814	14329	17945											
SALL4	57167	broad.mit.edu	37	20	50401032	50401032	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:50401032G>A	ENST00000217086.4	-	4	3045	c.2934C>T	c.(2932-2934)ggC>ggT	p.G978G	SALL4_ENST00000371539.3_Silent_p.G201G|SALL4_ENST00000395997.3_Silent_p.G541G	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4	978					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CGGCCAGACCGCCATTGAGCA	0.542													27	63					0	0	1	0	0	A	50401032	G	A	50401032	2	1	81	1	0	0	0	0	0	0	0	1	13865	1074	38	1		1	SALL4	20	50401032	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	108326	50401032	12624488	14330	17946											
SALL4	57167	broad.mit.edu	37	20	50406792	50406792	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:50406792G>A	ENST00000217086.4	-	2	2341	c.2230C>T	c.(2230-2232)Cag>Tag	p.Q744*	SALL4_ENST00000371539.3_Intron|SALL4_ENST00000395997.3_Intron	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4	744					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CCCTGGCGCTGCAGGTTAAAA	0.592													7	12					0	0	1	0	0	A	50406792	G	A	50406792	4	1	81	1	0	0	0	0	0	1	0	0	13865	1328	46	2	943	2	SALL4	20	50406792	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	5760	50406792	12618728	14331	17947											
SALL4	57167	broad.mit.edu	37	20	50407072	50407072	+	Silent	SNP	G	G	A	rs149008635	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:50407072G>A	ENST00000217086.4	-	2	2061	c.1950C>T	c.(1948-1950)ggC>ggT	p.G650G	SALL4_ENST00000371539.3_Intron|SALL4_ENST00000395997.3_Intron	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4	650					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GAATCTGACCGCCCATGTGCA	0.552													8	34					0	0	1	0	0	A	50407072	G	A	50407072	2	1	81	1	0	0	0	0	0	0	0	1	13865	1074	38	1		1	SALL4	20	50407072	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	280	50407072	12618448	14332	17948											
ZFP64	55734	broad.mit.edu	37	20	50769213	50769213	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:50769213G>A	ENST00000216923.4	-	6	1867	c.1518C>T	c.(1516-1518)ccC>ccT	p.P506P	ZFP64_ENST00000346617.4_Silent_p.P452P|ZFP64_ENST00000361387.2_Intron|ZFP64_ENST00000371518.2_Intron|ZFP64_ENST00000371515.4_Silent_p.P504P|ZFP64_ENST00000477786.1_Intron	NM_018197.2|NM_199426.1	NP_060667.2|NP_955458.1	Q9NPA5	ZF64A_HUMAN	ZFP64 zinc finger protein	506					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						TGTTCGCCTGGGGCACCTGAT	0.652													14	17					0	0	1	0	0	A	50769213	G	A	50769213	2	1	81	1	0	0	0	0	0	0	0	1	17710	1219	43	2		2	ZFP64	20	50769213	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	362141	50769213	12256307	14333	17949											
ZNF217	7764	broad.mit.edu	37	20	52198661	52198661	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:52198661G>A	ENST00000371471.2	-	2	1130	c.705C>T	c.(703-705)cgC>cgT	p.R235R	ZNF217_ENST00000302342.3_Silent_p.R235R			O75362	ZN217_HUMAN	zinc finger protein 217	235					negative regulation of transcription, DNA-dependent	histone deacetylase complex	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)			TGTGCACCTTGCGGTGCTCAA	0.517													31	69					0	0	1	0	0	A	52198661	G	A	52198661	2	1	81	1	0	0	0	0	0	0	0	1	17830	1306	46	2		2	ZNF217	20	52198661	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1429448	52198661	10826859	14334	17950											
ZNF217	7764	broad.mit.edu	37	20	52198934	52198934	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:52198934C>A	ENST00000371471.2	-	2	857	c.432G>T	c.(430-432)gaG>gaT	p.E144D	ZNF217_ENST00000302342.3_Missense_Mutation_p.E144D			O75362	ZN217_HUMAN	zinc finger protein 217	144					negative regulation of transcription, DNA-dependent	histone deacetylase complex	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)			TCATGTGGATCTCAACATCAA	0.423													20	186					3.5997e-14	4.56289e-14	1	1	0	A	52198934	C	A	52198934	3	1	81	1	0	0	0	0	1	0	0	0	17830	912	32	4	2730	4	ZNF217	20	52198934	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	273	52198934	10826586	14335	17951											
AURKA	6790	broad.mit.edu	37	20	54961320	54961320	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:54961320C>T	ENST00000395909.4	-	5	877	c.312G>A	c.(310-312)tcG>tcA	p.S104S	AURKA_ENST00000312783.6_Silent_p.S104S|AURKA_ENST00000347343.2_Silent_p.S104S|AURKA_ENST00000371356.2_Silent_p.S104S|AURKA_ENST00000395914.1_Silent_p.S104S|AURKA_ENST00000395915.3_Silent_p.S104S|AURKA_ENST00000395911.1_Silent_p.S104S|AURKA_ENST00000395907.1_Silent_p.S104S|AURKA_ENST00000395913.3_Silent_p.S104S	NM_198433.1	NP_940835.1	O14965	AURKA_HUMAN	aurora kinase A	104			S -> L (in dbSNP:rs2230743).		anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|phosphatidylinositol-mediated signaling|regulation of protein stability|spindle organization	cytosol|nucleus|perinuclear region of cytoplasm|spindle microtubule|spindle pole centrosome	ATP binding|protein kinase binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(1)|large_intestine(4)|lung(9)|ovary(2)|prostate(1)|skin(2)	22			Colorectal(105;0.202)			TACCAGGTGCCGATGGCAGGG	0.463													13	89					0	0	1	0	0	T	54961320	C	T	54961320	2	4	81	1	0	0	0	0	0	0	0	1	1219	639	23	1		1	AURKA	20	54961320	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2762386	54961320	8064200	14336	17952											
RBM38	55544	broad.mit.edu	37	20	55982762	55982762	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:55982762G>A	ENST00000356208.5	+	4	755	c.580G>A	c.(580-582)Gcc>Acc	p.A194T	RBM38_ENST00000440234.2_3'UTR|RBM38_ENST00000371219.2_Missense_Mutation_p.A113T	NM_017495.5	NP_059965.2	Q9H0Z9	RBM38_HUMAN	RNA binding motif protein 38	194					3'-UTR-mediated mRNA stabilization|cell cycle|cell cycle arrest|cell differentiation|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 transcription of p21 class mediator|mRNA processing|negative regulation of cell proliferation|regulation of RNA splicing|RNA splicing	cytosol|nucleus	mRNA 3'-UTR binding|mRNA binding|nucleotide binding|RNA binding			large_intestine(3)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9	Lung NSC(12;0.00242)|all_lung(29;0.00767)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;1.55e-12)|Epithelial(14;9.49e-09)|all cancers(14;5.01e-08)			CCCATACGCCGCCTCGCCTGC	0.697													9	7					0	0	1	0	0	A	55982762	G	A	55982762	3	1	81	1	0	0	0	0	1	0	0	0	13184	1087	38	1	353	1	RBM38	20	55982762	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1021442	55982762	7042758	14337	17953											
CTCFL	140690	broad.mit.edu	37	20	56094301	56094301	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:56094301G>A	ENST00000608263.1	-	3	1548	c.887C>T	c.(886-888)aCg>aTg	p.T296M	CTCFL_ENST00000433949.3_Missense_Mutation_p.T91M|CTCFL_ENST00000608903.1_Missense_Mutation_p.T34M|CTCFL_ENST00000371196.2_Missense_Mutation_p.T296M|CTCFL_ENST00000608425.1_Missense_Mutation_p.T296M|CTCFL_ENST00000502686.2_Missense_Mutation_p.T34M|CTCFL_ENST00000539382.1_Missense_Mutation_p.T91M|CTCFL_ENST00000608158.1_Missense_Mutation_p.T296M|CTCFL_ENST00000432255.2_Missense_Mutation_p.T296M|CTCFL_ENST00000609232.1_Missense_Mutation_p.T296M|CTCFL_ENST00000429804.3_Missense_Mutation_p.T296M|CTCFL_ENST00000608440.1_Missense_Mutation_p.T296M|CTCFL_ENST00000608858.1_5'UTR|CTCFL_ENST00000243914.3_Missense_Mutation_p.T296M|CTCFL_ENST00000481655.2_Missense_Mutation_p.T296M|CTCFL_ENST00000423479.3_Missense_Mutation_p.T296M|CTCFL_ENST00000422869.2_Missense_Mutation_p.T296M	NM_001269041.1	NP_001255970.1	Q8NI51	CTCFL_HUMAN	CCCTC-binding factor (zinc finger protein)-like						cell cycle|DNA methylation involved in gamete generation|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent	cytoplasm|nucleus	histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			CAGAGTGACCGTACGGAAGGT	0.453													40	56					0	0	1	0	0	A	56094301	G	A	56094301	3	1	81	1	0	0	0	0	1	0	0	0	4025	1145	40	1	1136	1	CTCFL	20	56094301	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	111539	56094301	6931219	14338	17954											
PCK1	5105	broad.mit.edu	37	20	56137900	56137900	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:56137900C>T	ENST00000319441.4	+	4	719	c.555C>T	c.(553-555)ggC>ggT	p.G185G	PCK1_ENST00000535860.1_Silent_p.G53G|PCK1_ENST00000543666.1_Intron	NM_002591.3	NP_002582.3	P35558	PCKGC_HUMAN	phosphoenolpyruvate carboxykinase 1 (soluble)	185					gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	carboxylic acid binding|GTP binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity			endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			AAGCAGTGGGCGATGGGGAGT	0.502													9	25					0	0	1	0	0	T	56137900	C	T	56137900	2	4	81	1	0	0	0	0	0	0	0	1	11628	755	27	1		1	PCK1	20	56137900	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	43599	56137900	6887620	14339	17955											
PCK1	5105	broad.mit.edu	37	20	56138777	56138777	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:56138777G>A	ENST00000319441.4	+	6	1119	c.955G>A	c.(955-957)Gca>Aca	p.A319T	PCK1_ENST00000535860.1_Missense_Mutation_p.A187T|PCK1_ENST00000543666.1_Intron	NM_002591.3	NP_002582.3	P35558	PCKGC_HUMAN	phosphoenolpyruvate carboxykinase 1 (soluble)	319					gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	carboxylic acid binding|GTP binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity			endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			GAAGTTTGACGCACAAGGTGA	0.542													34	56					0	0	1	0	0	A	56138777	G	A	56138777	3	1	81	1	0	0	0	0	1	0	0	0	11628	1087	38	1	973	1	PCK1	20	56138777	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	877	56138777	6886743	14340	17956											
PCK1	5105	broad.mit.edu	37	20	56140474	56140474	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:56140474G>A	ENST00000319441.4	+	10	1647	c.1483G>A	c.(1483-1485)Gcc>Acc	p.A495T	PCK1_ENST00000535860.1_3'UTR|PCK1_ENST00000543666.1_Missense_Mutation_p.A178T	NM_002591.3	NP_002582.3	P35558	PCKGC_HUMAN	phosphoenolpyruvate carboxykinase 1 (soluble)	495					gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	carboxylic acid binding|GTP binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity			endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			CAAATACCTGGCCCACTGGCT	0.512													29	29					0	0	1	0	0	A	56140474	G	A	56140474	3	1	81	1	0	0	0	0	1	0	0	0	11628	1203	42	2	1517	2	PCK1	20	56140474	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1697	56140474	6885046	14341	17957											
APCDD1L	164284	broad.mit.edu	37	20	57036050	57036050	+	Missense_Mutation	SNP	A	A	T	rs143927973		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:57036050A>T	ENST00000371149.3	-	4	1532	c.1302T>A	c.(1300-1302)gaT>gaA	p.D434E	APCDD1L_ENST00000439429.1_Missense_Mutation_p.D445E	NM_153360.1	NP_699191.1	Q8NCL9	APCDL_HUMAN	adenomatosis polyposis coli down-regulated 1-like	434						integral to membrane				large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(1)	18	Lung NSC(12;0.000856)|all_lung(29;0.0025)		BRCA - Breast invasive adenocarcinoma(13;5.6e-11)|Epithelial(14;1.67e-07)|all cancers(14;1.48e-06)			GACTTGAGCCATCGGTGGGCC	0.622													7	97					0	0	1	0	0	T	57036050	A	T	57036050	3	4	81	1	0	0	0	0	1	0	0	0	762	214	8	4	207	4	APCDD1L	20	57036050	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	895576	57036050	5989470	14342	17958											
SLMO2	51012	broad.mit.edu	37	20	57610078	57610078	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:57610078G>A	ENST00000355937.4	-	6	747	c.569C>T	c.(568-570)gCg>gTg	p.A190V	SLMO2_ENST00000371033.5_Missense_Mutation_p.A160V	NM_016045.2	NP_057129.2	Q9Y3B1	SLMO2_HUMAN	slowmo homolog 2 (Drosophila)	190										endometrium(1)|lung(2)|skin(2)	5	all_lung(29;0.00711)		Colorectal(105;0.109)			CTCTGCAAACGCTGCTGCTGC	0.403													14	19					0	0	1	0	0	A	57610078	G	A	57610078	3	1	81	1	0	0	0	0	1	0	0	0	14805	1087	38	1	19	1	SLMO2	20	57610078	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	574028	57610078	5415442	14343	17959											
ZNF831	128611	broad.mit.edu	37	20	57767536	57767536	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:57767536G>A	ENST00000371030.2	+	1	1462	c.1462G>A	c.(1462-1464)Gtc>Atc	p.V488I		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	488						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					CTTCCACTCCGTCCCCACTCA	0.692													13	18					0	0	1	0	0	A	57767536	G	A	57767536	3	1	81	1	0	0	0	0	1	0	0	0	18232	1145	40	1	1464	1	ZNF831	20	57767536	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	157458	57767536	5257984	14344	17960											
ZNF831	128611	broad.mit.edu	37	20	57767778	57767778	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:57767778G>T	ENST00000371030.2	+	1	1704	c.1704G>T	c.(1702-1704)gaG>gaT	p.E568D		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	568						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					CCGCGGTGGAGGACCTGCCAG	0.711													11	8					0.000978159	0.00104673	1	1	0	T	57767778	G	T	57767778	3	4	81	1	0	0	0	0	1	0	0	0	18232	991	35	4	1706	4	ZNF831	20	57767778	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	242	57767778	5257742	14345	17961											
ZNF831	128611	broad.mit.edu	37	20	57768129	57768129	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:57768129C>T	ENST00000371030.2	+	1	2055	c.2055C>T	c.(2053-2055)tcC>tcT	p.S685S		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	685						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					AGGACATATCCGCAGGGGCAA	0.622													5	15					0	0	1	0	0	T	57768129	C	T	57768129	2	4	81	1	0	0	0	0	0	0	0	1	18232	639	23	1		1	ZNF831	20	57768129	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	351	57768129	5257391	14346	17962											
PHACTR3	116154	broad.mit.edu	37	20	58342331	58342331	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:58342331C>T	ENST00000371015.1	+	5	1099	c.632C>T	c.(631-633)gCt>gTt	p.A211V	PHACTR3_ENST00000395639.4_Intron|PHACTR3_ENST00000355648.4_Missense_Mutation_p.A170V|PHACTR3_ENST00000359926.3_Missense_Mutation_p.A208V|PHACTR3_ENST00000395636.2_Missense_Mutation_p.A170V|PHACTR3_ENST00000541461.1_Missense_Mutation_p.A170V|PHACTR3_ENST00000361300.4_Intron	NM_001281507.1|NM_080672.3	NP_001268436.1|NP_542403.1	Q96KR7	PHAR3_HUMAN	phosphatase and actin regulator 3	211						nuclear matrix	actin binding|protein phosphatase inhibitor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|liver(2)|lung(32)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	59	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;2.76e-09)			TTAGCTGGGGCTGACTCCCTG	0.622													7	42					0	0	1	0	0	T	58342331	C	T	58342331	3	4	81	1	0	0	0	0	1	0	0	0	11859	797	28	2	650	2	PHACTR3	20	58342331	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	574202	58342331	4683189	14347	17963											
SYCP2	10388	broad.mit.edu	37	20	58448959	58448959	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:58448959G>T	ENST00000357552.3	-	35	3732	c.3507C>A	c.(3505-3507)ttC>ttA	p.F1169L	SYCP2_ENST00000371001.2_Missense_Mutation_p.F1169L			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	1169					cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding			NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			TTGCACACAGGAAGTTTTTCT	0.338													8	40					0.000157383	0.000171784	1	1	0	T	58448959	G	T	58448959	3	4	81	1	0	0	0	0	1	0	0	0	15489	1165	41	5	1129	5	SYCP2	20	58448959	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	106628	58448959	4576561	14348	17964											
CDH4	1002	broad.mit.edu	37	20	60427860	60427860	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:60427860C>T	ENST00000360469.5	+	6	871	c.783C>T	c.(781-783)atC>atT	p.I261I	CDH4_ENST00000543233.1_Silent_p.I187I	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	261	Cadherin 1.				adherens junction organization|cell junction assembly		calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			AGAACCCCATCGACCTGTACA	0.597													37	64					0	0	1	0	0	T	60427860	C	T	60427860	2	4	81	1	0	0	0	0	0	0	0	1	3134	874	31	1		1	CDH4	20	60427860	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1978901	60427860	2597660	14349	17965											
TAF4	6874	broad.mit.edu	37	20	60575278	60575278	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:60575278C>A	ENST00000252996.4	-	11	2688	c.2689G>T	c.(2689-2691)Gat>Tat	p.D897Y		NM_003185.3	NP_003176.2	O00268	TAF4_HUMAN	TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa						interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	p.D897N(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(26;1e-08)		BRCA - Breast invasive adenocarcinoma(19;3.1e-07)			CTTACTACATCTGGATGTAAT	0.348													5	80					0.000602214	0.000646338	1	1	0	A	60575278	C	A	60575278	3	1	81	1	0	0	0	0	1	0	0	0	15583	913	32	4	588	4	TAF4	20	60575278	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	147418	60575278	2450242	14350	17966											
TAF4	6874	broad.mit.edu	37	20	60575310	60575310	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:60575310C>T	ENST00000252996.4	-	11	2656	c.2657G>A	c.(2656-2658)gGt>gAt	p.G886D		NM_003185.3	NP_003176.2	O00268	TAF4_HUMAN	TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa						interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(26;1e-08)		BRCA - Breast invasive adenocarcinoma(19;3.1e-07)			ATGTTTTTTACCTAAAGGTCA	0.353													37	49					0	0	1	0	0	T	60575310	C	T	60575310	5	4	81	1	0	0	0	0	0	0	1	0	15583	521	18	2	620	2	TAF4	20	60575310	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	32	60575310	2450210	14351	17967											
TAF4	6874	broad.mit.edu	37	20	60575608	60575608	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:60575608C>A	ENST00000252996.4	-	10	2655	c.2656G>T	c.(2656-2658)Ggt>Tgt	p.G886C		NM_003185.3	NP_003176.2	O00268	TAF4_HUMAN	TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa						interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(26;1e-08)		BRCA - Breast invasive adenocarcinoma(19;3.1e-07)			ACCAACGTACCTATTTCTAAT	0.478													7	73					0.000274275	0.000297259	1	1	0	A	60575608	C	A	60575608	5	1	81	1	0	0	0	0	0	0	1	0	15583	695	24	4	625	4	TAF4	20	60575608	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	298	60575608	2449912	14352	17968											
PSMA7	5688	broad.mit.edu	37	20	60718345	60718345	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:60718345G>A	ENST00000370873.4	-	1	141	c.15C>T	c.(13-15)cgC>cgT	p.R5R	PSMA7_ENST00000484488.1_5'UTR|PSMA7_ENST00000370858.3_Silent_p.R5R	NM_002792.3	NP_002783.1	O14818	PSA7_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 7	5					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex, alpha-subunit complex	identical protein binding|threonine-type endopeptidase activity			large_intestine(1)|lung(2)	3	Breast(26;3.97e-09)		BRCA - Breast invasive adenocarcinoma(19;1.28e-07)			CGGTGATGGCGCGGTCGTAGC	0.736													4	2					0	0	1	0	0	A	60718345	G	A	60718345	2	1	81	1	0	0	0	0	0	0	0	1	12721	1074	38	1		1	PSMA7	20	60718345	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	142737	60718345	2307175	14353	17969											
OSBPL2	9885	broad.mit.edu	37	20	60859101	60859101	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:60859101G>T	ENST00000313733.3	+	10	1074		c.e10-1		OSBPL2_ENST00000439951.2_Splice_Site|OSBPL2_ENST00000358053.2_Splice_Site	NM_144498.1	NP_653081.1	Q9H1P3	OSBL2_HUMAN	oxysterol binding protein-like 2						lipid transport		lipid binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;1.33e-06)			TTTAATTACAGCAAAAAGAAG	0.388													30	40					8.16721e-17	1.05009e-16	1	1	0	T	60859101	G	T	60859101	5	4	81	1	0	0	0	0	0	0	1	0	11325	985	34	4	906	4	OSBPL2	20	60859101	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	140756	60859101	2166419	14354	17970											
ADRM1	11047	broad.mit.edu	37	20	60881369	60881369	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:60881369G>A	ENST00000253003.2	+	4	493	c.447G>A	c.(445-447)gcG>gcA	p.A149A	RP11-157P1.4_ENST00000414042.1_RNA|ADRM1_ENST00000462554.1_3'UTR	NM_007002.2|NM_175573.1	NP_008933.2|NP_783163.1	Q16186	ADRM1_HUMAN	adhesion regulating molecule 1	149	Gly-rich.				proteasome assembly|transcription elongation from RNA polymerase II promoter	cytoplasm|integral to plasma membrane|membrane fraction|nucleus|proteasome complex	endopeptidase activator activity|protease binding|proteasome binding			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|urinary_tract(1)	5	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;2.51e-06)			AACTCTCTGCGCTAGGCGGTA	0.597													12	112					0	0	1	0	0	A	60881369	G	A	60881369	2	1	81	1	0	0	0	0	0	0	0	1	344	1074	38	1		1	ADRM1	20	60881369	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	22268	60881369	2144151	14355	17971											
LAMA5	3911	broad.mit.edu	37	20	60887030	60887030	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:60887030G>A	ENST00000252999.3	-	70	9647	c.9581C>T	c.(9580-9582)gCg>gTg	p.A3194V		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	3194	Laminin G-like 3.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GGCGAAGCCCGCTTGAGTTTT	0.647													30	47					0	0	1	0	0	A	60887030	G	A	60887030	3	1	81	1	0	0	0	0	1	0	0	0	8648	1087	38	1	1550	1	LAMA5	20	60887030	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	5661	60887030	2138490	14356	17972											
LAMA5	3911	broad.mit.edu	37	20	60887095	60887095	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:60887095G>T	ENST00000252999.3	-	70	9582	c.9516C>A	c.(9514-9516)tgC>tgA	p.C3172*		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	3172	Laminin G-like 3.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GGGACACCTGGCATAGCCCAT	0.662													4	45					0.014758	0.0152304	1	1	0	T	60887095	G	T	60887095	4	4	81	1	0	0	0	0	0	1	0	0	8648	1195	42	5	1615	5	LAMA5	20	60887095	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	65	60887095	2138425	14357	17973											
LAMA5	3911	broad.mit.edu	37	20	60902974	60902974	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:60902974G>A	ENST00000252999.3	-	36	4811	c.4745C>T	c.(4744-4746)gCg>gTg	p.A1582V		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	1582	Laminin EGF-like 15.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CGCAGTGCCCGCCTCGTGACA	0.667													16	36					0	0	1	0	0	A	60902974	G	A	60902974	3	1	81	1	0	0	0	0	1	0	0	0	8648	1087	38	1	6522	1	LAMA5	20	60902974	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	15879	60902974	2122546	14358	17974											
LAMA5	3911	broad.mit.edu	37	20	60903418	60903418	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:60903418G>T	ENST00000252999.3	-	35	4597	c.4531C>A	c.(4531-4533)Ctg>Atg	p.L1511M		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	1511	Laminin EGF-like 13.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GGCTGGCACAGCAGGCAGTCG	0.677													3	4					0.000602214	0.000646338	1	1	0	T	60903418	G	T	60903418	3	4	81	1	0	0	0	0	1	0	0	0	8648	962	34	4	6740	4	LAMA5	20	60903418	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	444	60903418	2122102	14359	17975											
LAMA5	3911	broad.mit.edu	37	20	60907503	60907503	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:60907503C>A	ENST00000252999.3	-	28	3543	c.3477G>T	c.(3475-3477)caG>caT	p.Q1159H		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	1159	Domain IV 1 (domain IV B).				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CCAGGTGGTCCTGGGTATCCC	0.697													4	49					0.00024832	0.000269806	1	1	0	A	60907503	C	A	60907503	3	1	81	1	0	0	0	0	1	0	0	0	8648	680	24	4	7822	4	LAMA5	20	60907503	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	4085	60907503	2118017	14360	17976											
LAMA5	3911	broad.mit.edu	37	20	60909037	60909037	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:60909037C>T	ENST00000252999.3	-	23	2864	c.2798G>A	c.(2797-2799)cGa>cAa	p.R933Q		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	933	Domain IV 1 (domain IV B).				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GTTGACGTATCGGAAGACGAG	0.667													7	12					0	0	1	0	0	T	60909037	C	T	60909037	3	4	81	1	0	0	0	0	1	0	0	0	8648	884	31	1	8521	1	LAMA5	20	60909037	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1534	60909037	2116483	14361	17977											
SLCO4A1	28231	broad.mit.edu	37	20	61291876	61291876	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:61291876C>T	ENST00000217159.1	+	4	1205	c.1000C>T	c.(1000-1002)Cag>Tag	p.Q334*	SLCO4A1_ENST00000370507.1_Nonsense_Mutation_p.Q334*	NM_016354.3	NP_057438.3	Q96BD0	SO4A1_HUMAN	solute carrier organic anion transporter family, member 4A1	334					sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(3)|prostate(2)	21	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;2.33e-06)			TTACCCTCGGCAGCTGCCAGG	0.637													39	35					0	0	1	0	0	T	61291876	C	T	61291876	4	4	81	1	0	0	0	0	0	1	0	0	14784	711	25	2	1010	2	SLCO4A1	20	61291876	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	382839	61291876	1733644	14362	17978											
SLCO4A1	28231	broad.mit.edu	37	20	61292446	61292446	+	Missense_Mutation	SNP	C	C	T	rs142725476		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:61292446C>T	ENST00000217159.1	+	5	1245	c.1040C>T	c.(1039-1041)gCg>gTg	p.A347V	SLCO4A1_ENST00000370507.1_Missense_Mutation_p.A347V	NM_016354.3	NP_057438.3	Q96BD0	SO4A1_HUMAN	solute carrier organic anion transporter family, member 4A1	347					sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(3)|prostate(2)	21	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;2.33e-06)			ATGAGAGCGGCGGAAATGCAC	0.647													24	43					0	0	1	0	0	T	61292446	C	T	61292446	3	4	81	1	0	0	0	0	1	0	0	0	14784	768	27	1	1054	1	SLCO4A1	20	61292446	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	570	61292446	1733074	14363	17979											
SLCO4A1	28231	broad.mit.edu	37	20	61299185	61299185	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:61299185T>G	ENST00000217159.1	+	8	1766	c.1561T>G	c.(1561-1563)Tcg>Gcg	p.S521A	SLCO4A1_ENST00000370507.1_Missense_Mutation_p.S521A|SLCO4A1_ENST00000470412.1_3'UTR	NM_016354.3	NP_057438.3	Q96BD0	SO4A1_HUMAN	solute carrier organic anion transporter family, member 4A1	521	Kazal-like.				sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(3)|prostate(2)	21	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;2.33e-06)			TGTGTGCGGCTCGGACGGCCT	0.657													25	41					0	0	1	0	0	G	61299185	T	G	61299185	3	3	81	1	0	0	0	0	1	0	0	0	14784	1551	54	5	1587	5	SLCO4A1	20	61299185	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	6739	61299185	1726335	14364	17980											
NTSR1	4923	broad.mit.edu	37	20	61391456	61391456	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:61391456A>G	ENST00000370501.3	+	4	1465	c.1094A>G	c.(1093-1095)aAc>aGc	p.N365S	NTSR1_ENST00000482259.1_3'UTR	NM_002531.2	NP_002522.2	P30989	NTR1_HUMAN	neurotensin receptor 1 (high affinity)	365						endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	neurotensin receptor activity, G-protein coupled			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(16)|prostate(1)|skin(3)	27	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;3.63e-06)			ATCCTGTACAACCTCGTCTCT	0.587													39	70					0	0	1	0	0	G	61391456	A	G	61391456	3	3	81	1	0	0	0	0	1	0	0	0	10758	43	2	3	1108	3	NTSR1	20	61391456	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	92271	61391456	1634064	14365	17981											
COL9A3	1299	broad.mit.edu	37	20	61458647	61458647	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:61458647G>A	ENST00000343916.3	+	16	849		c.e16+1			NM_001853.3	NP_001844.3	Q14050	CO9A3_HUMAN	collagen, type IX, alpha 3						axon guidance	collagen type IX				breast(1)|endometrium(3)|large_intestine(1)|lung(18)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	28	Breast(26;5.68e-08)					GGGTGACCTCGTAAGTGAGAG	0.597													20	23					0	0	1	0	0	A	61458647	G	A	61458647	5	1	81	1	0	0	0	0	0	0	1	0	3732	1159	40	1	909	1	COL9A3	20	61458647	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	67191	61458647	1566873	14366	17982											
TCFL5	10732	broad.mit.edu	37	20	61488955	61488955	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:61488955G>A	ENST00000335351.3	-	4	1122	c.1030C>T	c.(1030-1032)Cgg>Tgg	p.R344W	TCFL5_ENST00000217162.5_Missense_Mutation_p.R296W	NM_006602.2	NP_006593.2	Q9UL49	TCFL5_HUMAN	transcription factor-like 5 (basic helix-loop-helix)	344					cell differentiation|multicellular organismal development|regulation of cell differentiation|regulation of cell proliferation|spermatogenesis|transcription from RNA polymerase II promoter		DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|large_intestine(5)|lung(1)|urinary_tract(1)	9	Breast(26;5.68e-08)					ATTCTACTCCGATTCCTCTTC	0.443													27	44					0	0	1	0	0	A	61488955	G	A	61488955	3	1	81	1	0	0	0	0	1	0	0	0	15759	1057	37	1	484	1	TCFL5	20	61488955	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	30308	61488955	1536565	14367	17983											
DIDO1	11083	broad.mit.edu	37	20	61512503	61512503	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:61512503C>A	ENST00000266070.4	-	16	5130	c.4805G>T	c.(4804-4806)gGc>gTc	p.G1602V	DIDO1_ENST00000395343.1_Missense_Mutation_p.G1602V	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1602					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					GGGCGCCTGGCCCACGAGGCC	0.701													4	11					0.014758	0.0152304	1	1	0	A	61512503	C	A	61512503	3	1	81	1	0	0	0	0	1	0	0	0	4550	739	26	5	1921	5	DIDO1	20	61512503	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	23548	61512503	1513017	14368	17984											
YTHDF1	54915	broad.mit.edu	37	20	61828083	61828083	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:61828083G>A	ENST00000370339.3	-	5	1998	c.1657C>T	c.(1657-1659)Cgg>Tgg	p.R553W	YTHDF1_ENST00000370334.4_Missense_Mutation_p.R46W|YTHDF1_ENST00000370333.4_Missense_Mutation_p.R503W	NM_017798.3	NP_060268.2	Q9BYJ9	YTHD1_HUMAN	YTH domain family, member 1	553										NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)	24						CGACTCTGCCGTTCCTGTAAA	0.448													47	48					0	0	1	0	0	A	61828083	G	A	61828083	3	1	81	1	0	0	0	0	1	0	0	0	17558	1144	40	1	26	1	YTHDF1	20	61828083	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	315580	61828083	1197437	14369	17985											
BIRC7	79444	broad.mit.edu	37	20	61870847	61870847	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:61870847G>A	ENST00000217169.3	+	6	1001	c.787G>A	c.(787-789)Gtc>Atc	p.V263I	BIRC7_ENST00000342412.6_Missense_Mutation_p.V245I|BIRC7_ENST00000395306.1_Missense_Mutation_p.V158I	NM_139317.1	NP_647478.1	Q96CA5	BIRC7_HUMAN	baculoviral IAP repeat containing 7	263					activation of JUN kinase activity|anti-apoptosis|DNA fragmentation involved in apoptotic nuclear change	cytoplasm|nucleus	enzyme binding|zinc ion binding			endometrium(1)|kidney(1)|lung(9)|ovary(1)	12	all_cancers(38;2.72e-09)					CGTGTCCATCGTCTTTGTGCC	0.697													15	32					0	0	1	0	0	A	61870847	G	A	61870847	3	1	81	1	0	0	0	0	1	0	0	0	1438	1145	40	1	809	1	BIRC7	20	61870847	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	42764	61870847	1154673	14370	17986											
COL20A1	57642	broad.mit.edu	37	20	61937231	61937231	+	Splice_Site	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:61937231A>G	ENST00000422202.1	+	4	405		c.e4-1		COL20A1_ENST00000326996.6_Splice_Site|COL20A1_ENST00000435874.1_Splice_Site|COL20A1_ENST00000358894.6_Splice_Site			Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1						cell adhesion	collagen|extracellular space	structural molecule activity			NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					GTCTCCCTGCAGTTGAGGATC	0.657													11	16					0	0	1	0	0	G	61937231	A	G	61937231	5	3	81	1	0	0	0	0	0	0	1	0	3702	202	7	3	350	3	COL20A1	20	61937231	Splice_Site	SNP	A	TCGA-DU-6392-01A-11D-1705-08	66384	61937231	1088289	14371	17987											
CHRNA4	1137	broad.mit.edu	37	20	61978114	61978114	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:61978114C>T	ENST00000370263.4	-	6	2081	c.1860G>A	c.(1858-1860)ccG>ccA	p.P620P	CHRNA4_ENST00000463705.1_5'UTR	NM_000744.6|NM_001256573.1	NP_000735.1|NP_001243502.1	P43681	ACHA4_HUMAN	cholinergic receptor, nicotinic, alpha 4 (neuronal)	620					B cell activation|behavioral response to nicotine|calcium ion transport|cognition|DNA repair|membrane depolarization|regulation of action potential|regulation of dopamine secretion|regulation of inhibitory postsynaptic membrane potential|response to hypoxia|response to oxidative stress|sensory perception of pain|synaptic transmission, cholinergic	cell junction|dendrite|external side of plasma membrane|membrane fraction|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(19)|prostate(3)|skin(3)|soft_tissue(1)	33	all_cancers(38;1.71e-10)				Nicotine(DB00184)|Varenicline(DB01273)	CCAGCCAGGGCGGCAGGAAGA	0.672													5	11					0	0	1	0	0	T	61978114	C	T	61978114	2	4	81	1	0	0	0	0	0	0	0	1	3407	755	27	1		1	CHRNA4	20	61978114	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	40883	61978114	1047406	14372	17988											
CHRNA4	1137	broad.mit.edu	37	20	61981023	61981023	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:61981023G>A	ENST00000370263.4	-	5	1961	c.1740C>T	c.(1738-1740)gcC>gcT	p.A580A	CHRNA4_ENST00000463705.1_5'UTR	NM_000744.6|NM_001256573.1	NP_000735.1|NP_001243502.1	P43681	ACHA4_HUMAN	cholinergic receptor, nicotinic, alpha 4 (neuronal)	580					B cell activation|behavioral response to nicotine|calcium ion transport|cognition|DNA repair|membrane depolarization|regulation of action potential|regulation of dopamine secretion|regulation of inhibitory postsynaptic membrane potential|response to hypoxia|response to oxidative stress|sensory perception of pain|synaptic transmission, cholinergic	cell junction|dendrite|external side of plasma membrane|membrane fraction|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(19)|prostate(3)|skin(3)|soft_tissue(1)	33	all_cancers(38;1.71e-10)				Nicotine(DB00184)|Varenicline(DB01273)	CTGTGTCTTCGGCCTTCAGGT	0.662													28	51					0	0	1	0	0	A	61981023	G	A	61981023	2	1	81	1	0	0	0	0	0	0	0	1	3407	1103	39	1		1	CHRNA4	20	61981023	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2909	61981023	1044497	14373	17989											
CHRNA4	1137	broad.mit.edu	37	20	61981752	61981752	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:61981752C>T	ENST00000370263.4	-	5	1232	c.1011G>A	c.(1009-1011)acG>acA	p.T337T	CHRNA4_ENST00000463705.1_5'UTR	NM_000744.6|NM_001256573.1	NP_000735.1|NP_001243502.1	P43681	ACHA4_HUMAN	cholinergic receptor, nicotinic, alpha 4 (neuronal)	337					B cell activation|behavioral response to nicotine|calcium ion transport|cognition|DNA repair|membrane depolarization|regulation of action potential|regulation of dopamine secretion|regulation of inhibitory postsynaptic membrane potential|response to hypoxia|response to oxidative stress|sensory perception of pain|synaptic transmission, cholinergic	cell junction|dendrite|external side of plasma membrane|membrane fraction|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(19)|prostate(3)|skin(3)|soft_tissue(1)	33	all_cancers(38;1.71e-10)				Nicotine(DB00184)|Varenicline(DB01273)	GCATGGTGTGCGTGCGTGGCG	0.622													20	31					0	0	1	0	0	T	61981752	C	T	61981752	2	4	81	1	0	0	0	0	0	0	0	1	3407	755	27	1		1	CHRNA4	20	61981752	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	729	61981752	1043768	14374	17990											
KCNQ2	3785	broad.mit.edu	37	20	62071046	62071046	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:62071046T>C	ENST00000354587.3	-	6	1008	c.832A>G	c.(832-834)Att>Gtt	p.I278V	KCNQ2_ENST00000359125.2_Missense_Mutation_p.I278V|KCNQ2_ENST00000360480.3_Missense_Mutation_p.I278V|KCNQ2_ENST00000344462.4_Missense_Mutation_p.I278V|KCNQ2_ENST00000344425.5_Missense_Mutation_p.I278V|KCNQ2_ENST00000359689.1_Missense_Mutation_p.I278V|KCNQ2_ENST00000370224.1_Missense_Mutation_p.I278V|KCNQ2_ENST00000357249.2_Missense_Mutation_p.I278V			O43526	KCNQ2_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 2	278					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)	CCGTAGCCAATGGTGGTCAGC	0.642													18	27					0	0	1	0	0	C	62071046	T	C	62071046	3	2	81	1	0	0	0	0	1	0	0	0	8127	1464	51	3	1898	3	KCNQ2	20	62071046	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	89294	62071046	954474	14375	17991											
PTK6	5753	broad.mit.edu	37	20	62162171	62162171	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:62162171G>A	ENST00000217185.2	-	6	969	c.942C>T	c.(940-942)gcC>gcT	p.A314A	PTK6_ENST00000542869.1_Silent_p.A213A	NM_005975.3	NP_005966.1	Q13882	PTK6_HUMAN	protein tyrosine kinase 6	314	Protein kinase.					cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			endometrium(3)|kidney(1)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	15	all_cancers(38;2.51e-11)		Epithelial(9;1.5e-08)|all cancers(9;8.67e-08)|BRCA - Breast invasive adenocarcinoma(10;6.43e-06)			TGTTCCTGGCGGCCAGGTCCC	0.607													17	20					0	0	1	0	0	A	62162171	G	A	62162171	2	1	81	1	0	0	0	0	0	0	0	1	12814	1103	39	1		1	PTK6	20	62162171	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	91125	62162171	863349	14376	17992											
PTK6	5753	broad.mit.edu	37	20	62168629	62168629	+	Nonsense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:62168629A>C	ENST00000217185.2	-	1	66	c.39T>G	c.(37-39)taT>taG	p.Y13*	PTK6_ENST00000542869.1_5'UTR	NM_005975.3	NP_005966.1	Q13882	PTK6_HUMAN	protein tyrosine kinase 6	13	SH3.					cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			endometrium(3)|kidney(1)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	15	all_cancers(38;2.51e-11)		Epithelial(9;1.5e-08)|all cancers(9;8.67e-08)|BRCA - Breast invasive adenocarcinoma(10;6.43e-06)			AGAGGCCCACATACTTGGGGC	0.701													2	3					0	0	1	0	0	C	62168629	A	C	62168629	4	2	81	1	0	0	0	0	0	1	0	0	12814	224	8	4	1348	4	PTK6	20	62168629	Nonsense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	6458	62168629	856891	14377	17993											
SRMS	6725	broad.mit.edu	37	20	62172560	62172560	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:62172560G>T	ENST00000217188.1	-	7	1309	c.1269C>A	c.(1267-1269)ggC>ggA	p.G423G		NM_080823.2	NP_543013.1	Q9H3Y6	SRMS_HUMAN	src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites	423	Protein kinase.						ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|stomach(1)	19	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)			AGGGACACTGGCCATAGGTGA	0.627													22	27					6.33239e-15	8.06005e-15	1	1	0	T	62172560	G	T	62172560	2	4	81	1	0	0	0	0	0	0	0	1	15208	1190	42	5		5	SRMS	20	62172560	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	3931	62172560	852960	14378	17994											
SRMS	6725	broad.mit.edu	37	20	62178752	62178752	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:62178752G>A	ENST00000217188.1	-	1	105	c.65C>T	c.(64-66)gCg>gTg	p.A22V		NM_080823.2	NP_543013.1	Q9H3Y6	SRMS_HUMAN	src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites	22							ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|stomach(1)	19	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)			CTCGCCGCCCGCCGGCCAGAT	0.716													58	59					0	0	1	0	0	A	62178752	G	A	62178752	3	1	81	1	0	0	0	0	1	0	0	0	15208	1087	38	1	1433	1	SRMS	20	62178752	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	6192	62178752	846768	14379	17995											
C20orf195	79025	broad.mit.edu	37	20	62187216	62187216	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:62187216G>A	ENST00000370098.3	+	2	292	c.200G>A	c.(199-201)cGc>cAc	p.R67H	C20orf195_ENST00000370097.1_Missense_Mutation_p.R67H	NM_024059.2	NP_076964.1	Q9BVV2	CT195_HUMAN	chromosome 20 open reading frame 195	67										large_intestine(3)|lung(4)	7	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)			CACCACGCCCGCATGCAGCTG	0.647													14	16					0	0	1	0	0	A	62187216	G	A	62187216	3	1	81	1	0	0	0	0	1	0	0	0	2114	1087	38	1	202	1	C20orf195	20	62187216	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	8464	62187216	838304	14380	17996											
C20orf195	79025	broad.mit.edu	37	20	62187487	62187487	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:62187487G>A	ENST00000370098.3	+	2	563	c.471G>A	c.(469-471)gcG>gcA	p.A157A	C20orf195_ENST00000370097.1_Silent_p.A157A	NM_024059.2	NP_076964.1	Q9BVV2	CT195_HUMAN	chromosome 20 open reading frame 195	157										large_intestine(3)|lung(4)	7	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)			CCGACTGGGCGCTGGTGGAGC	0.687													9	11					0	0	1	0	0	A	62187487	G	A	62187487	2	1	81	1	0	0	0	0	0	0	0	1	2114	1074	38	1		1	C20orf195	20	62187487	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	271	62187487	838033	14381	17997											
C20orf195	79025	broad.mit.edu	37	20	62187669	62187669	+	Missense_Mutation	SNP	C	C	T	rs117659219	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:62187669C>T	ENST00000370098.3	+	2	745	c.653C>T	c.(652-654)gCg>gTg	p.A218V	C20orf195_ENST00000370097.1_Missense_Mutation_p.A218V	NM_024059.2	NP_076964.1	Q9BVV2	CT195_HUMAN	chromosome 20 open reading frame 195	218										large_intestine(3)|lung(4)	7	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)			AAGGCGTCGGCGGCTCACCAG	0.622													41	68					0	0	1	0	0	T	62187669	C	T	62187669	3	4	81	1	0	0	0	0	1	0	0	0	2114	768	27	1	655	1	C20orf195	20	62187669	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	182	62187669	837851	14382	17998											
RTEL1	51750	broad.mit.edu	37	20	62293280	62293280	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:62293280C>T	ENST00000318100.4	+	4	1206	c.379C>T	c.(379-381)Cgg>Tgg	p.R127W	RTEL1-TNFRSF6B_ENST00000482936.1_Missense_Mutation_p.R127W|RTEL1_ENST00000370018.3_Missense_Mutation_p.R127W|RTEL1_ENST00000508582.2_Missense_Mutation_p.R127W|RTEL1_ENST00000360203.5_Missense_Mutation_p.R127W	NM_001283009.1	NP_001269938.1	Q9NZ71	RTEL1_HUMAN	regulator of telomere elongation helicase 1	127	Helicase ATP-binding.				DNA repair|regulation of double-strand break repair via homologous recombination|telomere maintenance	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)			CAACGAGCTTCGGAACACCTC	0.552													3	28					0	0	1	0	0	T	62293280	C	T	62293280	3	4	81	1	0	0	0	0	1	0	0	0	13772	875	31	1	389	1	RTEL1	20	62293280	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	105611	62293280	732240	14383	17999											
RTEL1	51750	broad.mit.edu	37	20	62303918	62303918	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:62303918G>A	ENST00000318100.4	+	9	1536	c.709G>A	c.(709-711)Gca>Aca	p.A237T	RTEL1-TNFRSF6B_ENST00000482936.1_Missense_Mutation_p.A237T|RTEL1_ENST00000370018.3_Missense_Mutation_p.A237T|RTEL1_ENST00000508582.2_Missense_Mutation_p.A261T|RTEL1_ENST00000360203.5_Missense_Mutation_p.A237T	NM_001283009.1	NP_001269938.1	Q9NZ71	RTEL1_HUMAN	regulator of telomere elongation helicase 1	237	Helicase ATP-binding.				DNA repair|regulation of double-strand break repair via homologous recombination|telomere maintenance	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)			GAGCCGCAGAGCACACAACAT	0.562													3	4					0	0	1	0	0	A	62303918	G	A	62303918	3	1	81	1	0	0	0	0	1	0	0	0	13772	971	34	2	739	2	RTEL1	20	62303918	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	10638	62303918	721602	14384	18000											
TNFRSF6B	8771	broad.mit.edu	37	20	62329814	62329814	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:62329814G>A	ENST00000369996.1	+	3	901	c.801G>A	c.(799-801)gcG>gcA	p.A267A	RTEL1-TNFRSF6B_ENST00000482936.1_3'UTR	NM_003823.3	NP_003814.1	O95407	TNF6B_HUMAN	tumor necrosis factor receptor superfamily, member 6b, decoy	267					anti-apoptosis|apoptosis	extracellular region|soluble fraction	protein binding|receptor activity			central_nervous_system(1)|lung(2)|skin(1)	4	all_cancers(38;4.66e-12)|all_epithelial(29;2.56e-13)|Lung NSC(23;1.06e-08)|all_lung(23;3.34e-08)		Epithelial(9;1.78e-08)|all cancers(9;7.89e-08)|OV - Ovarian serous cystadenocarcinoma(5;0.00504)			TCCTGGGGGCGCAGGACGGGG	0.756													4	6					0	0	1	0	0	A	62329814	G	A	62329814	2	1	81	1	0	0	0	0	0	0	0	1	16358	1074	38	1		1	TNFRSF6B	20	62329814	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	25896	62329814	695706	14385	18001											
SLC2A4RG	56731	broad.mit.edu	37	20	62374245	62374245	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:62374245G>A	ENST00000266077.2	+	8	1118	c.1066G>A	c.(1066-1068)Gac>Aac	p.D356N	SLC2A4RG_ENST00000493772.1_3'UTR	NM_020062.3	NP_064446.2	Q9NR83	S2A4R_HUMAN	SLC2A4 regulator	356						cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|kidney(1)|lung(2)|prostate(2)|skin(1)	7	all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09)					GCCCCGCGGCGACGCGAAGAA	0.672													4	11					0	0	1	0	0	A	62374245	G	A	62374245	3	1	81	1	0	0	0	0	1	0	0	0	14602	1058	37	1	1096	1	SLC2A4RG	20	62374245	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	44431	62374245	651275	14386	18002											
SLC2A4RG	56731	broad.mit.edu	37	20	62374307	62374307	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:62374307C>T	ENST00000266077.2	+	8	1180	c.1128C>T	c.(1126-1128)tgC>tgT	p.C376C	SLC2A4RG_ENST00000493772.1_3'UTR	NM_020062.3	NP_064446.2	Q9NR83	S2A4R_HUMAN	SLC2A4 regulator	376						cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|kidney(1)|lung(2)|prostate(2)|skin(1)	7	all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09)					GCACAGCCTGCCGCTGGAAGA	0.657													8	4					0	0	1	0	0	T	62374307	C	T	62374307	2	4	81	1	0	0	0	0	0	0	0	1	14602	747	26	2		2	SLC2A4RG	20	62374307	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	62	62374307	651213	14387	18003											
ZBTB46	140685	broad.mit.edu	37	20	62378406	62378406	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:62378406G>A	ENST00000245663.4	-	5	1797	c.1647C>T	c.(1645-1647)ggC>ggT	p.G549G	ZBTB46_ENST00000302995.2_Silent_p.G549G|ZBTB46_ENST00000395104.1_Silent_p.G549G	NM_025224.3	NP_079500.2	Q86UZ6	ZBT46_HUMAN	zinc finger and BTB domain containing 46	549					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09)					CGTCGTCCTCGCCCAGCTCCT	0.726													13	23					0	0	1	0	0	A	62378406	G	A	62378406	2	1	81	1	0	0	0	0	0	0	0	1	17606	1074	38	1		1	ZBTB46	20	62378406	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	4099	62378406	647114	14388	18004											
ZBTB46	140685	broad.mit.edu	37	20	62384176	62384176	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:62384176G>T	ENST00000245663.4	-	4	1411	c.1261C>A	c.(1261-1263)Ccg>Acg	p.P421T	ZBTB46_ENST00000302995.2_Missense_Mutation_p.P421T|ZBTB46_ENST00000395104.1_Missense_Mutation_p.P421T	NM_025224.3	NP_079500.2	Q86UZ6	ZBT46_HUMAN	zinc finger and BTB domain containing 46	421					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09)					CTGCAGTACGGACACTTGAAC	0.607													13	20					6.31663e-08	7.44777e-08	1	1	0	T	62384176	G	T	62384176	3	4	81	1	0	0	0	0	1	0	0	0	17606	1174	41	5	516	5	ZBTB46	20	62384176	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	5770	62384176	641344	14389	18005											
ZBTB46	140685	broad.mit.edu	37	20	62421634	62421634	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:62421634C>T	ENST00000245663.4	-	2	627	c.477G>A	c.(475-477)tcG>tcA	p.S159S	ZBTB46_ENST00000395104.1_Silent_p.S159S|ZBTB46_ENST00000302995.2_Silent_p.S159S	NM_025224.3	NP_079500.2	Q86UZ6	ZBT46_HUMAN	zinc finger and BTB domain containing 46	159					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09)					CCATCACGGCCGAGATGAGAG	0.642													3	5					0	0	1	0	0	T	62421634	C	T	62421634	2	4	81	1	0	0	0	0	0	0	0	1	17606	639	23	1		1	ZBTB46	20	62421634	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	37458	62421634	603886	14390	18006											
UCKL1	54963	broad.mit.edu	37	20	62577807	62577807	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:62577807G>A	ENST00000369908.5	-	2	557	c.258C>T	c.(256-258)atC>atT	p.I86I	UCKL1_ENST00000354216.6_Splice_Site_p.I101I|UCKL1_ENST00000369892.3_Splice_Site_p.I101I|UCKL1_ENST00000492660.1_5'UTR|UCKL1_ENST00000358711.3_Splice_Site_p.I101I	NM_001193379.1	NP_001180308.1	Q9NWZ5	UCKL1_HUMAN	uridine-cytidine kinase 1-like 1	101					interspecies interaction between organisms	endoplasmic reticulum|nucleus	ATP binding|phosphotransferase activity, alcohol group as acceptor|protein binding|uridine kinase activity			endometrium(3)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	8	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					TGCTCTCACCGATGGCGAAGG	0.677													5	10					0	0	1	0	0	A	62577807	G	A	62577807	5	1	81	1	0	0	0	0	0	0	1	0	16985	1072	37	1	1399	1	UCKL1	20	62577807	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	156173	62577807	447713	14391	18007											
ZNF512B	57473	broad.mit.edu	37	20	62591493	62591493	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:62591493C>A	ENST00000450537.1	-	17	2488		c.e17-1		ZNF512B_ENST00000369888.1_Splice_Site|ZNF512B_ENST00000217130.3_Splice_Site			Q96KM6	Z512B_HUMAN	zinc finger protein 512B						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1)	33	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					GGAACCAGTTCTGGGGAGAGA	0.542													13	21					0.000151284	0.000165917	1	1	0	A	62591493	C	A	62591493	5	1	81	1	0	0	0	0	0	0	1	0	18014	927	32	4	255	4	ZNF512B	20	62591493	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	13686	62591493	434027	14392	18008											
ZNF512B	57473	broad.mit.edu	37	20	62597978	62597978	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:62597978G>A	ENST00000450537.1	-	5	610	c.550C>T	c.(550-552)Cgg>Tgg	p.R184W	ZNF512B_ENST00000369888.1_Missense_Mutation_p.R184W|ZNF512B_ENST00000217130.3_Missense_Mutation_p.R184W			Q96KM6	Z512B_HUMAN	zinc finger protein 512B	184					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1)	33	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					CCAACAGGCCGGCTGATGGTG	0.597													30	43					0	0	1	0	0	A	62597978	G	A	62597978	3	1	81	1	0	0	0	0	1	0	0	0	18014	1115	39	1	2180	1	ZNF512B	20	62597978	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	6485	62597978	427542	14393	18009											
SAMD10	140700	broad.mit.edu	37	20	62608449	62608449	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:62608449G>A	ENST00000369886.3	-	3	494	c.320C>T	c.(319-321)tCg>tTg	p.S107L	SAMD10_ENST00000498830.1_5'UTR|ZNF512B_ENST00000217130.3_Intron|ZNF512B_ENST00000450537.1_Intron	NM_080621.4	NP_542188.1	Q9BYL1	SAM10_HUMAN	sterile alpha motif domain containing 10	107										kidney(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|prostate(1)	7	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					GCCACCCAGCGAGGGGCTTGT	0.637													19	47					0	0	1	0	0	A	62608449	G	A	62608449	3	1	81	1	0	0	0	0	1	0	0	0	13867	1059	37	1	300	1	SAMD10	20	62608449	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	10471	62608449	417071	14394	18010											
PRPF6	24148	broad.mit.edu	37	20	62658381	62658381	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:62658381G>T	ENST00000535781.1	+	15	2066	c.1955G>T	c.(1954-1956)aGg>aTg	p.R652M	ZNF512B_ENST00000217130.3_Intron|ZNF512B_ENST00000450537.1_Intron			O94906	PRP6_HUMAN	pre-mRNA processing factor 6	692					assembly of spliceosomal tri-snRNP|positive regulation of transcription from RNA polymerase II promoter|spliceosome assembly	catalytic step 2 spliceosome|nucleoplasm|U4/U6 snRNP|U4/U6 x U5 tri-snRNP complex|U5 snRNP	androgen receptor binding|ribonucleoprotein binding|transcription coactivator activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(38;6.47e-12)|all_epithelial(29;1.26e-13)|Lung NSC(23;9.37e-10)|all_lung(23;3.23e-09)					GACAACATCAGGGCAGCCCAA	0.572													16	37					3.52763e-06	4.02143e-06	1	1	0	T	62658381	G	T	62658381	3	4	81	1	0	0	0	0	1	0	0	0	12626	1000	35	4	2137	4	PRPF6	20	62658381	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	49932	62658381	367139	14395	18011											
RGS19	10287	broad.mit.edu	37	20	62705620	62705620	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:62705620G>A	ENST00000395042.1	-	5	605	c.339C>T	c.(337-339)agC>agT	p.S113S	RGS19_ENST00000332298.5_Silent_p.S113S	NM_005873.2	NP_005864.1	P49795	RGS19_HUMAN	regulator of G-protein signaling 19	113	RGS.				autophagy|G-protein coupled receptor protein signaling pathway|negative regulation of signal transduction|small GTPase mediated signal transduction	Golgi apparatus|membrane fraction|plasma membrane	GTPase activator activity|protein binding|signal transducer activity			lung(1)|prostate(1)|skin(1)	3	all_cancers(38;3.45e-11)|all_epithelial(29;9.12e-13)|Lung NSC(23;2e-09)|all_lung(23;6.77e-09)					TGTTCTCCTCGCTGTACTCTG	0.612													8	23					0	0	1	0	0	A	62705620	G	A	62705620	2	1	81	1	0	0	0	0	0	0	0	1	13351	1078	38	1		1	RGS19	20	62705620	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	47239	62705620	319900	14396	18012											
RGS19	10287	broad.mit.edu	37	20	62705659	62705659	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:62705659T>C	ENST00000395042.1	-	5	566	c.300A>G	c.(298-300)ggA>ggG	p.G100G	RGS19_ENST00000332298.5_Silent_p.G100G	NM_005873.2	NP_005864.1	P49795	RGS19_HUMAN	regulator of G-protein signaling 19	100	RGS.				autophagy|G-protein coupled receptor protein signaling pathway|negative regulation of signal transduction|small GTPase mediated signal transduction	Golgi apparatus|membrane fraction|plasma membrane	GTPase activator activity|protein binding|signal transducer activity			lung(1)|prostate(1)|skin(1)	3	all_cancers(38;3.45e-11)|all_epithelial(29;9.12e-13)|Lung NSC(23;2e-09)|all_lung(23;6.77e-09)					ACACGCTGCGTCCCGCTGGGC	0.632													5	19					0	0	1	0	0	C	62705659	T	C	62705659	2	2	81	1	0	0	0	0	0	0	0	1	13351	1654	58	3		3	RGS19	20	62705659	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	39	62705659	319861	14397	18013											
OPRL1	4987	broad.mit.edu	37	20	62729242	62729242	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:62729242G>T	ENST00000349451.3	+	5	733	c.321G>T	c.(319-321)caG>caT	p.Q107H	OPRL1_ENST00000355631.4_Missense_Mutation_p.Q107H|OPRL1_ENST00000336866.2_Missense_Mutation_p.Q107H	NM_001200019.1	NP_001186948.1	P41146	OPRX_HUMAN	opiate receptor-like 1	107					elevation of cytosolic calcium ion concentration|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception	integral to plasma membrane	protein binding|X-opioid receptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(38;4.74e-11)|all_epithelial(29;1.33e-12)|Lung NSC(23;3.27e-09)|all_lung(23;1.02e-08)					TGCCCTTCCAGGGCACGGACA	0.547													48	57					2.43468e-25	3.22041e-25	1	1	0	T	62729242	G	T	62729242	3	4	81	1	0	0	0	0	1	0	0	0	10934	991	35	4	327	4	OPRL1	20	62729242	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	23583	62729242	296278	14398	18014											
NPBWR2	2832	broad.mit.edu	37	20	62737922	62737922	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:62737922G>A	ENST00000369768.1	-	1	602	c.263C>T	c.(262-264)gCc>gTc	p.A88V		NM_005286.2	NP_005277.2	P48146	NPBW2_HUMAN	neuropeptides B/W receptor 2	88						plasma membrane	opioid receptor activity|protein binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(38;2.58e-11)|all_epithelial(29;6.4e-13)|Lung NSC(23;1.25e-09)|all_lung(23;4.21e-09)					GTCGGCGACGGCCAGGTTCAG	0.612													8	12					0	0	1	0	0	A	62737922	G	A	62737922	3	1	81	1	0	0	0	0	1	0	0	0	10616	1203	42	2	741	2	NPBWR2	20	62737922	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	8680	62737922	287598	14399	18015											
MYT1	4661	broad.mit.edu	37	20	62854528	62854528	+	Splice_Site	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:62854528T>C	ENST00000536311.1	+	15	2904		c.e15+2		MYT1_ENST00000360149.4_Splice_Site|MYT1_ENST00000328439.1_Splice_Site			Q01538	MYT1_HUMAN	myelin transcription factor 1						cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					CCACCGCAGGTTTGTCTCCTG	0.612													9	174					0	0	1	0	0	C	62854528	T	C	62854528	5	2	81	1	0	0	0	0	0	0	1	0	10154	1739	60	3	2511	3	MYT1	20	62854528	Splice_Site	SNP	T	TCGA-DU-6392-01A-11D-1705-08	116606	62854528	170992	14400	18016											
MYT1	4661	broad.mit.edu	37	20	62854707	62854707	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:62854707C>T	ENST00000536311.1	+	16	2968	c.2604C>T	c.(2602-2604)gaC>gaT	p.D868D	MYT1_ENST00000360149.4_Intron|MYT1_ENST00000328439.1_Silent_p.D841D			Q01538	MYT1_HUMAN	myelin transcription factor 1	841					cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					ACTCTGCTGACCTCAAGTATG	0.547													85	117					0	0	1	0	0	T	62854707	C	T	62854707	2	4	81	1	0	0	0	0	0	0	0	1	10154	506	18	2		2	MYT1	20	62854707	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	179	62854707	170813	14401	18017											
TPTE	7179	broad.mit.edu	37	21	10933894	10933894	+	Missense_Mutation	SNP	C	C	A	rs148357558		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:10933894C>A	ENST00000298232.7	-	16	1298	c.931G>T	c.(931-933)Gat>Tat	p.D311Y	TPTE_ENST00000361285.4_Missense_Mutation_p.D329Y|TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000342420.5_Missense_Mutation_p.D291Y	NM_199259.2	NP_954868	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	329	Phosphatase tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.D311N(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			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)		TTTTCAAGATCTTGAGCCATC	0.318													63	329					6.72169e-28	8.9353e-28	1	1	0	A	10933894	C	A	10933894	3	1	81	1	0	0	0	0	1	0	0	0	16491	913	32	4	702	4	TPTE	21	10933894	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08		10933894	37196001	14402	18018											
TPTE	7179	broad.mit.edu	37	21	10934119	10934119	+	Splice_Site	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:10934119A>G	ENST00000298232.7	-	15	1171	c.804T>C	c.(802-804)agT>agC	p.S268S	TPTE_ENST00000361285.4_Splice_Site_p.S286S|TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000342420.5_Splice_Site_p.S248S	NM_199259.2	NP_954868	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	286	Phosphatase tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			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)		AAGCTCTTTCACCTAAAATAA	0.303													9	180					0	0	1	0	0	G	10934119	A	G	10934119	5	3	81	1	0	0	0	0	0	0	1	0	16491	173	6	3	833	3	TPTE	21	10934119	Splice_Site	SNP	A	TCGA-DU-6392-01A-11D-1705-08	225	10934119	37195776	14403	18019											
TPTE	7179	broad.mit.edu	37	21	10996140	10996140	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:10996140C>A	ENST00000415664.2	-	11	1346		c.e11-1					P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology						signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			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)		CCACCAATACCTATCCAAAAA	0.378													5	94					0.000602214	0.000646338	1	1	0	A	10996140	C	A	10996140	5	1	81	1	0	0	0	0	0	0	1	0	16491	696	24	4		4	TPTE	21	10996140	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	62021	10996140	37133755	14404	18020											
BAGE2	85319	broad.mit.edu	37	21	11038775	11038775	+	RNA	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:11038775C>A	ENST00000470054.1	-	0	1428									B melanoma antigen family, member 2															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)		TTAGTAATAGCTGGTTTACCC	0.388													19	232					1.15919e-05	1.30633e-05	1	1	0	A	11038775	C	A	11038775	1	1	81	0	1	0	0	0	0	0	0	0	1290	812	28	4		4	BAGE2	21	11038775	RNA	SNP	C	TCGA-DU-6392-01A-11D-1705-08	42635	11038775	37091120	14405	18021											
BAGE2	85319	broad.mit.edu	37	21	11038962	11038962	+	RNA	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:11038962C>T	ENST00000470054.1	-	0	1241									B melanoma antigen family, member 2															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)		AATGATGACTCTGTCTCAGAT	0.413													31	467					0	0	1	0	0	T	11038962	C	T	11038962	1	4	81	0	1	0	0	0	0	0	0	0	1290	928	32	2		2	BAGE2	21	11038962	RNA	SNP	C	TCGA-DU-6392-01A-11D-1705-08	187	11038962	37090933	14406	18022											
BAGE2	85319	broad.mit.edu	37	21	11039266	11039266	+	RNA	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:11039266C>T	ENST00000470054.1	-	0	937									B melanoma antigen family, member 2															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)		ACTGCAGTTGCTCTTGCTGCA	0.398													14	276					0	0	1	0	0	T	11039266	C	T	11039266	1	4	81	0	1	0	0	0	0	0	0	0	1290	812	28	2		2	BAGE2	21	11039266	RNA	SNP	C	TCGA-DU-6392-01A-11D-1705-08	304	11039266	37090629	14407	18023											
BAGE2	85319	broad.mit.edu	37	21	11049593	11049593	+	RNA	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:11049593G>A	ENST00000470054.1	-	0	515									B melanoma antigen family, member 2															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)		CCGGGCTGTCGCACACTGCAC	0.383													14	191					0	0	1	0	0	A	11049593	G	A	11049593	1	1	81	0	1	0	0	0	0	0	0	0	1290	1087	38	1		1	BAGE2	21	11049593	RNA	SNP	G	TCGA-DU-6392-01A-11D-1705-08	10327	11049593	37080302	14408	18024											
LIPI	149998	broad.mit.edu	37	21	15561361	15561362	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:15561361_15561362insT	ENST00000344577.2	-	2	513_514	c.488_489insA	c.(487-489)aatfs	p.N163fs	LIPI_ENST00000536861.1_Frame_Shift_Ins_p.N142fs	NM_198996.2	NP_945347.1	Q6XZB0	LIPI_HUMAN	lipase, member I	142					lipid catabolic process	extracellular region|extracellular space|membrane|plasma membrane	heparin binding|phospholipase activity			endometrium(1)|kidney(13)|large_intestine(9)|liver(3)|lung(24)|ovary(3)|urinary_tract(1)	54				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166)		TTACCAAAAGATTTTTAATGTG	0.332													20	46	---	---	---	---						T	15561362	-	T	15561361	7	5	81	1	0	1	1	0	0	0	0	0	8866	330	12	0	992	0	LIPI	21	15561361	Frame_Shift_Ins	INS	-	TCGA-DU-6392-01A-11D-1705-08	4511768	15561361	32568534	14409	18025											
NRIP1	8204	broad.mit.edu	37	21	16338404	16338404	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:16338404C>A	ENST00000400202.1	-	3	2822	c.2110G>T	c.(2110-2112)Gaa>Taa	p.E704*	NRIP1_ENST00000400199.1_Nonsense_Mutation_p.E704*|NRIP1_ENST00000318948.4_Nonsense_Mutation_p.E704*			P48552	NRIP1_HUMAN	nuclear receptor interacting protein 1	704					androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		androgen receptor binding|estrogen receptor binding|glucocorticoid receptor binding|transcription coactivator activity|transcription corepressor activity			cervix(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(13)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	39				Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24)		AGCAGATTTTCTATTTCAGAA	0.408													29	47					1.75199e-13	2.20964e-13	1	1	0	A	16338404	C	A	16338404	4	1	81	1	0	0	0	0	0	1	0	0	10700	922	32	4	1370	4	NRIP1	21	16338404	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	777043	16338404	31791491	14410	18026											
USP25	29761	broad.mit.edu	37	21	17246800	17246800	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:17246800A>G	ENST00000285681.2	+	23	3219	c.2850A>G	c.(2848-2850)ggA>ggG	p.G950G	USP25_ENST00000400183.2_Silent_p.G988G|USP25_ENST00000285679.6_Silent_p.G918G|USP25_ENST00000351097.5_Silent_p.G313G	NM_001283042.1	NP_001269971.1	Q9UHP3	UBP25_HUMAN	ubiquitin specific peptidase 25	918					protein modification process|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(4)|endometrium(6)|kidney(2)|large_intestine(13)|liver(5)|lung(14)|ovary(4)|prostate(1)|skin(1)|urinary_tract(2)	52				Epithelial(23;7.55e-05)|all cancers(11;0.000429)|COAD - Colon adenocarcinoma(22;0.00543)|OV - Ovarian serous cystadenocarcinoma(11;0.00743)|Colorectal(24;0.0116)|Lung(58;0.0853)|LUSC - Lung squamous cell carcinoma(23;0.0889)		TATACAGAGGACATGATGAAG	0.313													56	63					0	0	1	0	0	G	17246800	A	G	17246800	2	3	81	1	0	0	0	0	0	0	0	1	17116	262	10	3		3	USP25	21	17246800	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	908396	17246800	30883095	14411	18027											
USP25	29761	broad.mit.edu	37	21	17246839	17246839	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:17246839T>C	ENST00000285681.2	+	23	3258	c.2889T>C	c.(2887-2889)tgT>tgC	p.C963C	USP25_ENST00000400183.2_Silent_p.C1001C|USP25_ENST00000285679.6_Silent_p.C931C|USP25_ENST00000351097.5_Silent_p.C326C	NM_001283042.1	NP_001269971.1	Q9UHP3	UBP25_HUMAN	ubiquitin specific peptidase 25	931					protein modification process|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(4)|endometrium(6)|kidney(2)|large_intestine(13)|liver(5)|lung(14)|ovary(4)|prostate(1)|skin(1)|urinary_tract(2)	52				Epithelial(23;7.55e-05)|all cancers(11;0.000429)|COAD - Colon adenocarcinoma(22;0.00543)|OV - Ovarian serous cystadenocarcinoma(11;0.00743)|Colorectal(24;0.0116)|Lung(58;0.0853)|LUSC - Lung squamous cell carcinoma(23;0.0889)		GAAGAGAATGTTTGCTAGTAA	0.333													10	111					0	0	1	0	0	C	17246839	T	C	17246839	2	2	81	1	0	0	0	0	0	0	0	1	17116	1731	60	3		3	USP25	21	17246839	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	39	17246839	30883056	14412	18028											
CXADR	1525	broad.mit.edu	37	21	18919457	18919457	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:18919457G>A	ENST00000284878.7	+	2	904	c.156G>A	c.(154-156)ccG>ccA	p.P52P	CXADR_ENST00000400166.1_Silent_p.P52P|CXADR_ENST00000356275.6_Silent_p.P52P|CXADR_ENST00000306618.10_Silent_p.P52P|CXADR_ENST00000400165.1_Silent_p.P52P|CXADR_ENST00000400169.1_Silent_p.P52P	NM_001338.4	NP_001329.1	P78310	CXAR_HUMAN	coxsackie virus and adenovirus receptor	52	Ig-like C2-type 1.				blood coagulation|cell adhesion|interspecies interaction between organisms|leukocyte migration|regulation of immune response	adherens junction|basolateral plasma membrane|extracellular region|integral to plasma membrane|nucleus|tight junction	receptor activity			endometrium(2)|large_intestine(5)|lung(1)|ovary(1)|prostate(2)	11				Epithelial(23;0.000206)|all cancers(11;0.000302)|OV - Ovarian serous cystadenocarcinoma(11;0.0194)|Lung(58;0.0233)|COAD - Colon adenocarcinoma(22;0.0389)|Colorectal(24;0.0483)|LUSC - Lung squamous cell carcinoma(23;0.0782)		ACCAGGGACCGCTGGACATCG	0.468													35	31					0	0	1	0	0	A	18919457	G	A	18919457	2	1	81	1	0	0	0	0	0	0	0	1	4099	1074	38	1		1	CXADR	21	18919457	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1672618	18919457	29210438	14413	18029											
BTG3	10950	broad.mit.edu	37	21	18977277	18977277	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:18977277T>G	ENST00000339775.6	-	3	365	c.212A>C	c.(211-213)gAt>gCt	p.D71A	BTG3_ENST00000348354.6_Missense_Mutation_p.D71A	NM_001130914.1	NP_001124386.1	Q14201	BTG3_HUMAN	BTG family, member 3	71					negative regulation of cell proliferation|negative regulation of mitotic cell cycle	cytoplasm				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)	8				Epithelial(23;0.000283)|all cancers(11;0.0012)|Lung(58;0.0191)|OV - Ovarian serous cystadenocarcinoma(11;0.0206)|COAD - Colon adenocarcinoma(22;0.0315)|LUSC - Lung squamous cell carcinoma(23;0.0703)|Colorectal(24;0.0971)		TTTCAGGACATCAGGATCAAC	0.423													13	41					0	0	1	0	0	G	18977277	T	G	18977277	3	3	81	1	0	0	0	0	1	0	0	0	1558	1435	50	4	694	4	BTG3	21	18977277	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	57820	18977277	29152618	14414	18030											
C21orf91	54149	broad.mit.edu	37	21	19169018	19169018	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:19169018A>G	ENST00000284881.4	-	3	635	c.545T>C	c.(544-546)tTa>tCa	p.L182S	AL109761.5_ENST00000428689.1_RNA|C21orf91_ENST00000400559.3_Missense_Mutation_p.L182S|C21orf91_ENST00000400558.3_Missense_Mutation_p.L182S	NM_001100420.1|NM_017447.3	NP_001093890.1|NP_059143.3	Q9NYK6	EURL_HUMAN	chromosome 21 open reading frame 91	182										endometrium(2)|large_intestine(2)|lung(4)|ovary(1)	9				Epithelial(23;8.76e-05)|all cancers(11;0.000422)|OV - Ovarian serous cystadenocarcinoma(11;0.0107)|Lung(58;0.0129)|COAD - Colon adenocarcinoma(22;0.0303)|LUSC - Lung squamous cell carcinoma(23;0.0381)|Colorectal(24;0.0929)		GTTACGACATAAAGTGGCACC	0.438													8	186					0	0	1	0	0	G	19169018	A	G	19169018	3	3	81	1	0	0	0	0	1	0	0	0	2148	372	13	3	360	3	C21orf91	21	19169018	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	191741	19169018	28960877	14415	18031											
TMPRSS15	5651	broad.mit.edu	37	21	19653381	19653381	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:19653381G>A	ENST00000284885.3	-	22	2677	c.2644C>T	c.(2644-2646)Ctg>Ttg	p.L882L		NM_002772.2	NP_002763	P98073	ENTK_HUMAN	transmembrane protease, serine 15	882	Peptidase S1.				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						TTAAATTCCAGATGCATCATG	0.328													53	100					0	0	1	0	0	A	19653381	G	A	19653381	2	1	81	1	0	0	0	0	0	0	0	1	16306	933	33	2		2	TMPRSS15	21	19653381	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	484363	19653381	28476514	14416	18032											
TMPRSS15	5651	broad.mit.edu	37	21	19653399	19653399	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:19653399C>T	ENST00000284885.3	-	22	2659	c.2626G>A	c.(2626-2628)Gac>Aac	p.D876N		NM_002772.2	NP_002763	P98073	ENTK_HUMAN	transmembrane protease, serine 15	876	Peptidase S1.				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						ATGGCAATGTCGTTGTCCTTT	0.343													64	110					0	0	1	0	0	T	19653399	C	T	19653399	3	4	81	1	0	0	0	0	1	0	0	0	16306	884	31	1	449	1	TMPRSS15	21	19653399	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	18	19653399	28476496	14417	18033											
TMPRSS15	5651	broad.mit.edu	37	21	19685272	19685272	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:19685272G>T	ENST00000284885.3	-	18	2188	c.2155C>A	c.(2155-2157)Ctg>Atg	p.L719M		NM_002772.2	NP_002763	P98073	ENTK_HUMAN	transmembrane protease, serine 15	719	SRCR.				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						CCTAGTCCCAGCAGTTGACAA	0.358													35	37					1.04352e-10	1.28159e-10	1	1	0	T	19685272	G	T	19685272	3	4	81	1	0	0	0	0	1	0	0	0	16306	962	34	4	936	4	TMPRSS15	21	19685272	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	31873	19685272	28444623	14418	18034											
MRPL39	54148	broad.mit.edu	37	21	26972178	26972178	+	Splice_Site	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:26972178A>G	ENST00000307301.7	-	5	562	c.521T>C	c.(520-522)gTa>gCa	p.V174A	MRPL39_ENST00000352957.4_Splice_Site_p.V174A	NM_080794.3	NP_542984	Q9NYK5	RM39_HUMAN	mitochondrial ribosomal protein L39	174						mitochondrial ribosome	nucleotide binding			endometrium(2)|large_intestine(3)|lung(4)|ovary(1)	10						ACCAGAAATTACTGTAAATCC	0.333													19	40					0	0	1	0	0	G	26972178	A	G	26972178	5	3	81	1	0	0	0	0	0	0	1	0	9851	405	14	3	612	3	MRPL39	21	26972178	Splice_Site	SNP	A	TCGA-DU-6392-01A-11D-1705-08	7286906	26972178	21157717	14419	18035											
MRPL39	54148	broad.mit.edu	37	21	26978878	26978878	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:26978878G>A	ENST00000307301.7	-	2	204	c.163C>T	c.(163-165)Cag>Tag	p.Q55*	MRPL39_ENST00000352957.4_Nonsense_Mutation_p.Q55*	NM_080794.3	NP_542984	Q9NYK5	RM39_HUMAN	mitochondrial ribosomal protein L39	55						mitochondrial ribosome	nucleotide binding			endometrium(2)|large_intestine(3)|lung(4)|ovary(1)	10						AATGATAACTGCCTGGCTTTC	0.418													23	50					0	0	1	0	0	A	26978878	G	A	26978878	4	1	81	1	0	0	0	0	0	1	0	0	9851	1328	46	2	982	2	MRPL39	21	26978878	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	6700	26978878	21151017	14420	18036											
JAM2	58494	broad.mit.edu	37	21	27074497	27074497	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:27074497T>C	ENST00000480456.1	+	6	1163	c.613T>C	c.(613-615)Tcc>Ccc	p.S205P	JAM2_ENST00000425221.2_Missense_Mutation_p.S169P|JAM2_ENST00000312957.5_Missense_Mutation_p.S205P|JAM2_ENST00000400532.1_Missense_Mutation_p.S205P	NM_001270407.1|NM_021219.3	NP_001257336.1|NP_067042.1	P57087	JAM2_HUMAN	junctional adhesion molecule 2	205	Ig-like C2-type.				blood coagulation|cell-cell adhesion|leukocyte migration	integral to plasma membrane|tight junction				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|stomach(1)|urinary_tract(1)	19						TAATACTGTTTCCAAACTGGA	0.358													16	28					0	0	1	0	0	C	27074497	T	C	27074497	3	2	81	1	0	0	0	0	1	0	0	0	7987	1783	62	3	635	3	JAM2	21	27074497	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	95619	27074497	21055398	14421	18037											
JAM2	58494	broad.mit.edu	37	21	27074552	27074552	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:27074552G>A	ENST00000480456.1	+	6	1218	c.668G>A	c.(667-669)cGc>cAc	p.R223H	JAM2_ENST00000425221.2_Missense_Mutation_p.R187H|JAM2_ENST00000312957.5_Missense_Mutation_p.R223H|JAM2_ENST00000400532.1_Missense_Mutation_p.R223H	NM_001270407.1|NM_021219.3	NP_001257336.1|NP_067042.1	P57087	JAM2_HUMAN	junctional adhesion molecule 2	223	Ig-like C2-type.				blood coagulation|cell-cell adhesion|leukocyte migration	integral to plasma membrane|tight junction				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|stomach(1)|urinary_tract(1)	19						GTTGGATATCGCAGGTGTCCT	0.398													13	19					0	0	1	0	0	A	27074552	G	A	27074552	3	1	81	1	0	0	0	0	1	0	0	0	7987	1087	38	1	690	1	JAM2	21	27074552	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	55	27074552	21055343	14422	18038											
GABPA	2551	broad.mit.edu	37	21	27117541	27117541	+	Missense_Mutation	SNP	C	C	T	rs140080802	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:27117541C>T	ENST00000354828.3	+	3	625	c.98C>T	c.(97-99)gCg>gTg	p.A33V	GABPA_ENST00000400075.3_Missense_Mutation_p.A33V|GABPA_ENST00000487266.1_3'UTR	NM_001197297.1	NP_001184226.1	Q06546	GABPA_HUMAN	GA binding protein transcription factor, alpha subunit 60kDa	33					positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	24						CAAACCTACGCGCCAGCTGAA	0.373													19	51					0	0	1	0	0	T	27117541	C	T	27117541	3	4	81	1	0	0	0	0	1	0	0	0	6192	768	27	1	104	1	GABPA	21	27117541	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	42989	27117541	21012354	14423	18039											
GABPA	2551	broad.mit.edu	37	21	27124333	27124333	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:27124333T>G	ENST00000354828.3	+	5	868	c.341T>G	c.(340-342)gTt>gGt	p.V114G	GABPA_ENST00000400075.3_Missense_Mutation_p.V114G|GABPA_ENST00000487266.1_3'UTR	NM_001197297.1	NP_001184226.1	Q06546	GABPA_HUMAN	GA binding protein transcription factor, alpha subunit 60kDa	114					positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	24						CTTGAAATTGTTAAACCTGCG	0.348													28	48					0	0	1	0	0	G	27124333	T	G	27124333	3	3	81	1	0	0	0	0	1	0	0	0	6192	1725	60	5	355	5	GABPA	21	27124333	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	6792	27124333	21005562	14424	18040											
APP	351	broad.mit.edu	37	21	27372368	27372368	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:27372368T>C	ENST00000358918.3	-	7	1194	c.995A>G	c.(994-996)gAc>gGc	p.D332G	APP_ENST00000354192.3_Intron|APP_ENST00000439274.2_Missense_Mutation_p.D276G|APP_ENST00000359726.3_Intron|APP_ENST00000348990.5_Intron|APP_ENST00000448388.2_Intron|APP_ENST00000346798.3_Missense_Mutation_p.D332G|APP_ENST00000357903.3_Missense_Mutation_p.D332G|APP_ENST00000440126.3_Missense_Mutation_p.D327G	NM_001204301.1|NM_001204302.1	NP_001191230.1|NP_001191231.1	P05067	A4_HUMAN	amyloid beta (A4) precursor protein	332	BPTI/Kunitz inhibitor.				adult locomotory behavior|axon cargo transport|axon midline choice point recognition|cell adhesion|cellular copper ion homeostasis|collateral sprouting in absence of injury|dendrite development|endocytosis|extracellular matrix organization|G2 phase of mitotic cell cycle|innate immune response|ionotropic glutamate receptor signaling pathway|mating behavior|mRNA polyadenylation|neuron apoptosis|neuron remodeling|Notch signaling pathway|platelet activation|platelet degranulation|positive regulation of mitotic cell cycle|protein phosphorylation|regulation of epidermal growth factor receptor activity|regulation of multicellular organism growth|regulation of synapse structure and activity|regulation of translation|visual learning	axon|cell surface|coated pit|dendritic shaft|dendritic spine|extracellular region|Golgi apparatus|integral to plasma membrane|platelet alpha granule lumen	acetylcholine receptor binding|DNA binding|heparin binding|identical protein binding|metal ion binding|protein binding|PTB domain binding|serine-type endopeptidase inhibitor activity			endometrium(5)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(209;0.00295)				CTCTTCTGTGTCAAAGTTGTT	0.557													15	12					0	0	1	0	0	C	27372368	T	C	27372368	3	2	81	1	0	0	0	0	1	0	0	0	812	1667	58	3	1365	3	APP	21	27372368	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	248035	27372368	20757527	14425	18041											
CYYR1	116159	broad.mit.edu	37	21	27945278	27945278	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:27945278G>A	ENST00000435845.2	-	1	325	c.306C>T	c.(304-306)agC>agT	p.S102S	CYYR1_ENST00000299340.4_5'UTR|CYYR1_ENST00000400043.3_5'UTR			Q96J86	CYYR1_HUMAN	cysteine/tyrosine-rich 1	143						integral to membrane				large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	15						GTGGCCTGAGGCTTGGAGCGA	0.637													3	20					0	0	1	0	0	A	27945278	G	A	27945278	2	1	81	1	0	0	0	0	0	0	0	1	4234	1218	42	2		2	CYYR1	21	27945278	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	572910	27945278	20184617	14426	18042											
ADAMTS1	9510	broad.mit.edu	37	21	28210177	28210177	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:28210177C>A	ENST00000284984.3	-	9	3079	c.2625G>T	c.(2623-2625)caG>caT	p.Q875H		NM_006988.3	NP_008919.3	Q9UHI8	ATS1_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 1		TSP type-1 2.				integrin-mediated signaling pathway|negative regulation of cell proliferation|proteolysis		heparin binding|zinc ion binding			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(20)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	42		Breast(209;0.000962)		Lung(58;0.215)		CCAGTCTTCTCTGCCAACCCA	0.478													18	83					1.33834e-09	1.61909e-09	1	1	0	A	28210177	C	A	28210177	3	1	81	1	0	0	0	0	1	0	0	0	254	912	32	4	282	4	ADAMTS1	21	28210177	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	264899	28210177	19919718	14427	18043											
ADAMTS5	11096	broad.mit.edu	37	21	28338410	28338410	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:28338410C>A	ENST00000284987.5	-	1	422	c.301G>T	c.(301-303)Gac>Tac	p.D101Y		NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	101					proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						CGCTCCAGGTCCAAGAGGAAC	0.682													35	39					3.76114e-14	4.76686e-14	1	1	0	A	28338410	C	A	28338410	3	1	81	1	0	0	0	0	1	0	0	0	268	855	30	5	2523	5	ADAMTS5	21	28338410	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	128233	28338410	19791485	14428	18044											
N6AMT1	29104	broad.mit.edu	37	21	30248787	30248787	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:30248787T>C	ENST00000303775.5	-	6	590	c.565A>G	c.(565-567)Aaa>Gaa	p.K189E	N6AMT1_ENST00000351429.3_Missense_Mutation_p.K161E	NM_013240.4	NP_037372	Q9Y5N5	HEMK2_HUMAN	N-6 adenine-specific DNA methyltransferase 1 (putative)	189					positive regulation of cell growth	protein complex	nucleic acid binding|protein binding|protein methyltransferase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)	12						TGCAGACCTTTTGTCTTCATT	0.363													5	109					0	0	1	0	0	C	30248787	T	C	30248787	3	2	81	1	0	0	0	0	1	0	0	0	10162	1850	64	3	83	3	N6AMT1	21	30248787	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	1910377	30248787	17881108	14429	18045											
RWDD2B	10069	broad.mit.edu	37	21	30378931	30378931	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:30378931C>T	ENST00000493196.1	-	5	867	c.767G>A	c.(766-768)cGa>cAa	p.R256Q	RWDD2B_ENST00000486719.1_5'UTR	NM_016940.2	NP_058636.1	P57060	RWD2B_HUMAN	RWD domain containing 2B	256										endometrium(1)|kidney(1)|large_intestine(8)|lung(2)	12						AATGTCTTCTCGATGGCGAAT	0.318													5	16					0	0	1	0	0	T	30378931	C	T	30378931	3	4	81	1	0	0	0	0	1	0	0	0	13808	884	31	1	196	1	RWDD2B	21	30378931	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	130144	30378931	17750964	14430	18046											
RWDD2B	10069	broad.mit.edu	37	21	30380277	30380277	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:30380277C>T	ENST00000493196.1	-	4	630	c.530G>A	c.(529-531)gGa>gAa	p.G177E	RWDD2B_ENST00000486719.1_5'UTR	NM_016940.2	NP_058636.1	P57060	RWD2B_HUMAN	RWD domain containing 2B	177										endometrium(1)|kidney(1)|large_intestine(8)|lung(2)	12						GACTGTGCTTCCTGTGGTGGG	0.443													5	88					0	0	1	0	0	T	30380277	C	T	30380277	3	4	81	1	0	0	0	0	1	0	0	0	13808	855	30	2	437	2	RWDD2B	21	30380277	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1346	30380277	17749618	14431	18047											
RWDD2B	10069	broad.mit.edu	37	21	30380627	30380627	+	Splice_Site	SNP	G	G	A	rs149192196		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:30380627G>A	ENST00000493196.1	-	3	396	c.296C>T	c.(295-297)gCg>gTg	p.A99V	RWDD2B_ENST00000486719.1_5'UTR	NM_016940.2	NP_058636.1	P57060	RWD2B_HUMAN	RWD domain containing 2B	99	RWD.									endometrium(1)|kidney(1)|large_intestine(8)|lung(2)	12						AGAAAACATCGCCTGATTAAA	0.398													40	35					0	0	1	0	0	A	30380627	G	A	30380627	5	1	81	1	0	0	0	0	0	0	1	0	13808	1101	38	1	675	1	RWDD2B	21	30380627	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	350	30380627	17749268	14432	18048											
USP16	10600	broad.mit.edu	37	21	30426427	30426427	+	Silent	SNP	C	C	T	rs146396744		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:30426427C>T	ENST00000334352.4	+	19	2622	c.2391C>T	c.(2389-2391)agC>agT	p.S797S	USP16_ENST00000399975.3_Silent_p.S796S|USP16_ENST00000399976.2_Silent_p.S797S|USP16_ENST00000535828.1_Silent_p.S426S	NM_001032410.1	NP_001027582.1	Q9Y5T5	UBP16_HUMAN	ubiquitin specific peptidase 16	797					cell division|histone deubiquitination|mitosis|positive regulation of transcription, DNA-dependent|protein homotetramerization|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|histone binding|transcription coactivator activity|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(2)	34						TTCACATCAGCGACACACATG	0.338													24	52					0	0	1	0	0	T	30426427	C	T	30426427	2	4	81	1	0	0	0	0	0	0	0	1	17107	767	27	1		1	USP16	21	30426427	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	45800	30426427	17703468	14433	18049											
CCT8	10694	broad.mit.edu	37	21	30432936	30432936	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:30432936C>A	ENST00000286788.4	-	14	1701	c.1495G>T	c.(1495-1497)Gat>Tat	p.D499Y	CCT8_ENST00000542732.1_Missense_Mutation_p.D480Y|CCT8_ENST00000540844.1_Missense_Mutation_p.D426Y|CCT8_ENST00000470450.1_5'UTR	NM_006585.2	NP_006576.2	P50990	TCPQ_HUMAN	chaperonin containing TCP1, subunit 8 (theta)	499					'de novo' posttranslational protein folding	aggresome|cytosol|intermediate filament cytoskeleton|microtubule organizing center	ATP binding|ATPase activity, coupled|unfolded protein binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(1)|prostate(3)	14						AGGTAAGTATCTAGAATACCA	0.378													48	71					5.34276e-22	7.0107e-22	1	1	0	A	30432936	C	A	30432936	3	1	81	1	0	0	0	0	1	0	0	0	2982	913	32	4	159	4	CCT8	21	30432936	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	6509	30432936	17696959	14434	18050											
CCT8	10694	broad.mit.edu	37	21	30439249	30439249	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:30439249A>G	ENST00000286788.4	-	5	731	c.525T>C	c.(523-525)aaT>aaC	p.N175N	CCT8_ENST00000542732.1_Silent_p.N156N|CCT8_ENST00000540844.1_Silent_p.N102N|CCT8_ENST00000470450.1_5'UTR	NM_006585.2	NP_006576.2	P50990	TCPQ_HUMAN	chaperonin containing TCP1, subunit 8 (theta)	175					'de novo' posttranslational protein folding	aggresome|cytosol|intermediate filament cytoskeleton|microtubule organizing center	ATP binding|ATPase activity, coupled|unfolded protein binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(1)|prostate(3)	14						GAAATACTTCATTACCATATT	0.333													16	73					0	0	1	0	0	G	30439249	A	G	30439249	2	3	81	1	0	0	0	0	0	0	0	1	2982	214	8	3		3	CCT8	21	30439249	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	6313	30439249	17690646	14435	18051											
BACH1	571	broad.mit.edu	37	21	30701893	30701893	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:30701893C>A	ENST00000399921.1	+	4	1898	c.1655C>A	c.(1654-1656)cCa>cAa	p.P552Q	BACH1_ENST00000286800.3_Missense_Mutation_p.P552Q	NM_206866.1	NP_996749.1	O14867	BACH1_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 1	552						nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|urinary_tract(2)	27						AAGCTTACTCCAGAACAGCTG	0.373													10	24					7.48243e-07	8.64403e-07	1	1	0	A	30701893	C	A	30701893	3	1	81	1	0	0	0	0	1	0	0	0	1281	594	21	5	1665	5	BACH1	21	30701893	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	262644	30701893	17428002	14436	18052											
GRIK1	2897	broad.mit.edu	37	21	30909580	30909580	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:30909580G>A	ENST00000399914.1	-	17	3297	c.2776C>T	c.(2776-2778)Cga>Tga	p.R926*	GRIK1_ENST00000535441.1_Nonsense_Mutation_p.R914*|GRIK1_ENST00000327783.4_Nonsense_Mutation_p.R941*|GRIK1_ENST00000399913.1_Nonsense_Mutation_p.R912*|GRIK1_ENST00000389125.3_Nonsense_Mutation_p.R897*			P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	0					central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					L-Glutamic Acid(DB00142)|Topiramate(DB00273)	CTCTGAGTTCGTCTCTGATGA	0.398													14	35					0	0	1	0	0	A	30909580	G	A	30909580	4	1	81	1	0	0	0	0	0	1	0	0	6814	1153	40	1	32	1	GRIK1	21	30909580	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	207687	30909580	17220315	14437	18053											
GRIK1	2897	broad.mit.edu	37	21	30925998	30925998	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:30925998A>G	ENST00000399907.1	-	17	3046	c.2635T>C	c.(2635-2637)Tgt>Cgt	p.C879R	GRIK1_ENST00000535441.1_Intron|GRIK1_ENST00000327783.4_Intron|GRIK1_ENST00000399914.1_Intron|GRIK1_ENST00000399913.1_Intron|GRIK1_ENST00000389125.3_Intron|GRIK1_ENST00000399909.1_Missense_Mutation_p.C864R|GRIK1_ENST00000389124.2_Intron|GRIK1_ENST00000309434.7_Missense_Mutation_p.C881R	NM_000830.3	NP_000821.1	P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	879					central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					L-Glutamic Acid(DB00142)|Topiramate(DB00273)	GTTTGCTTACATTGCAGTCCA	0.333													13	143					0	0	1	0	0	G	30925998	A	G	30925998	3	3	81	1	0	0	0	0	1	0	0	0	6814	217	8	3	285	3	GRIK1	21	30925998	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	16418	30925998	17203897	14438	18054											
GRIK1	2897	broad.mit.edu	37	21	31045367	31045367	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:31045367T>C	ENST00000399914.1	-	4	1183	c.662A>G	c.(661-663)aAa>aGa	p.K221R	GRIK1_ENST00000535441.1_Missense_Mutation_p.K221R|GRIK1_ENST00000327783.4_Missense_Mutation_p.K221R|GRIK1_ENST00000472429.1_5'UTR|GRIK1_ENST00000399913.1_Missense_Mutation_p.K221R|GRIK1_ENST00000389125.3_Missense_Mutation_p.K221R|GRIK1_ENST00000399909.1_Missense_Mutation_p.K221R|GRIK1_ENST00000389124.2_Missense_Mutation_p.K221R|GRIK1_ENST00000309434.7_Missense_Mutation_p.K221R|GRIK1_ENST00000399907.1_Missense_Mutation_p.K221R			P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	221					central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					L-Glutamic Acid(DB00142)|Topiramate(DB00273)	CTCCTTGCCTTTCTTCATCTC	0.448													60	119					0	0	1	0	0	C	31045367	T	C	31045367	3	2	81	1	0	0	0	0	1	0	0	0	6814	1841	64	3	2310	3	GRIK1	21	31045367	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	119369	31045367	17084528	14439	18055											
CLDN8	9073	broad.mit.edu	37	21	31588194	31588194	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:31588194C>T	ENST00000399899.1	-	1	197	c.50G>A	c.(49-51)gGa>gAa	p.G17E	CLDN8_ENST00000286809.1_Missense_Mutation_p.G17E	NM_199328.2	NP_955360.1	P56748	CLD8_HUMAN	claudin 8	17					calcium-independent cell-cell adhesion	endoplasmic reticulum|integral to membrane|tight junction	identical protein binding|structural molecule activity			NS(1)|endometrium(2)|large_intestine(6)|lung(6)	15						GCCCACCATTCCAACACCACC	0.502													13	42					0	0	1	0	0	T	31588194	C	T	31588194	3	4	81	1	0	0	0	0	1	0	0	0	3514	855	30	2	631	2	CLDN8	21	31588194	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	542827	31588194	16541701	14440	18056											
KRTAP19-1	337882	broad.mit.edu	37	21	31852400	31852400	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:31852400C>T	ENST00000390689.2	-	1	263	c.237G>A	c.(235-237)tcG>tcA	p.S79S		NM_181607.1	NP_853638.1	Q8IUB9	KR191_HUMAN	keratin associated protein 19-1	79	26 X 2 AA repeats of G-[YCGS].					intermediate filament				cervix(1)|endometrium(1)|large_intestine(2)|lung(2)	6						CTCCATTGTACGATGGGCGGC	0.493													9	234					0	0	1	0	0	T	31852400	C	T	31852400	2	4	81	1	0	0	0	0	0	0	0	1	8571	523	19	1		1	KRTAP19-1	21	31852400	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	264206	31852400	16277495	14441	18057	90	2									
KRTAP19-1	337882	broad.mit.edu	37	21	31852407	31852407	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:31852407C>T	ENST00000390689.2	-	1	256	c.230G>A	c.(229-231)cGc>cAc	p.R77H		NM_181607.1	NP_853638.1	Q8IUB9	KR191_HUMAN	keratin associated protein 19-1	77	26 X 2 AA repeats of G-[YCGS].					intermediate filament		p.R77H(1)		cervix(1)|endometrium(1)|large_intestine(2)|lung(2)	6						GTACGATGGGCGGCAGCAGCC	0.488													110	118					0	0	1	0	0	T	31852407	C	T	31852407	3	4	81	1	0	0	0	0	1	0	0	0	8571	768	27	1	44	1	KRTAP19-1	21	31852407	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	7	31852407	16277488	14442	18058	90	2									
KRTAP19-2	337969	broad.mit.edu	37	21	31859657	31859657	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:31859657C>T	ENST00000334055.3	-	1	98	c.11G>A	c.(10-12)gGc>gAc	p.G4D		NM_181608.1	NP_853639.1	Q3LHN2	KR192_HUMAN	keratin associated protein 19-2	4						intermediate filament				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5						ACAGCCGTAGCCATAGCACAT	0.567													9	137					0	0	1	0	0	T	31859657	C	T	31859657	3	4	81	1	0	0	0	0	1	0	0	0	8572	739	26	2	149	2	KRTAP19-2	21	31859657	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	7250	31859657	16270238	14443	18059											
TIAM1	7074	broad.mit.edu	37	21	32502548	32502548	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:32502548C>T	ENST00000286827.3	-	26	4499	c.4028G>A	c.(4027-4029)cGa>cAa	p.R1343Q	TIAM1_ENST00000541036.1_Missense_Mutation_p.R1283Q	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	1343	PH 2.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity	p.R1343L(2)		autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						CGCCAAAGCTCGAACCTGCAG	0.483													76	163					0	0	1	0	0	T	32502548	C	T	32502548	3	4	81	1	0	0	0	0	1	0	0	0	15950	884	31	1	763	1	TIAM1	21	32502548	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	642891	32502548	15627347	14444	18060											
HUNK	30811	broad.mit.edu	37	21	33371473	33371473	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:33371473C>T	ENST00000270112.2	+	11	2481	c.2121C>T	c.(2119-2121)gcC>gcT	p.A707A		NM_014586.1	NP_055401.1	P57058	HUNK_HUMAN	hormonally up-regulated Neu-associated kinase	707					multicellular organismal development|signal transduction		ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(2)|stomach(1)	30						TTGACATGGCCGATGGGGTCA	0.592													20	52					0	0	1	0	0	T	33371473	C	T	33371473	2	4	81	1	0	0	0	0	0	0	0	1	7502	639	23	1		1	HUNK	21	33371473	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	868925	33371473	14758422	14445	18061											
SYNJ1	8867	broad.mit.edu	37	21	34018894	34018894	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:34018894C>A	ENST00000382499.2	-	24	3172	c.3173G>T	c.(3172-3174)aGt>aTt	p.S1058I	SYNJ1_ENST00000357345.3_Missense_Mutation_p.S1019I|SYNJ1_ENST00000322229.7_Missense_Mutation_p.S1019I|SYNJ1_ENST00000382491.3_Missense_Mutation_p.S1014I|SYNJ1_ENST00000433931.2_Missense_Mutation_p.S1058I	NM_203446.2	NP_982271.2	O43426	SYNJ1_HUMAN	synaptojanin 1	1019	Pro-rich.						inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						CACTTCAGCACTATAGTCATC	0.448													31	26					6.38683e-12	7.95227e-12	1	1	0	A	34018894	C	A	34018894	3	1	81	1	0	0	0	0	1	0	0	0	15509	565	20	4	1726	4	SYNJ1	21	34018894	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	647421	34018894	14111001	14446	18062											
SYNJ1	8867	broad.mit.edu	37	21	34045776	34045776	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:34045776G>A	ENST00000382499.2	-	14	1716	c.1717C>T	c.(1717-1719)Cga>Tga	p.R573*	SYNJ1_ENST00000357345.3_Nonsense_Mutation_p.R534*|SYNJ1_ENST00000322229.7_Nonsense_Mutation_p.R534*|SYNJ1_ENST00000382491.3_Nonsense_Mutation_p.R529*|SYNJ1_ENST00000433931.2_Nonsense_Mutation_p.R573*	NM_203446.2	NP_982271.2	O43426	SYNJ1_HUMAN	synaptojanin 1	534	Catalytic (Potential).						inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding	p.R534*(2)		breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						ACACATACTCGAATTTTCTTA	0.388													6	57					0	0	1	0	0	A	34045776	G	A	34045776	4	1	81	1	0	0	0	0	0	1	0	0	15509	1066	37	1	3222	1	SYNJ1	21	34045776	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	26882	34045776	14084119	14447	18063											
SYNJ1	8867	broad.mit.edu	37	21	34072157	34072157	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:34072157C>A	ENST00000382499.2	-	4	586	c.587G>T	c.(586-588)aGa>aTa	p.R196I	SYNJ1_ENST00000357345.3_Missense_Mutation_p.R157I|SYNJ1_ENST00000322229.7_Missense_Mutation_p.R157I|SYNJ1_ENST00000382491.3_Missense_Mutation_p.R157I|SYNJ1_ENST00000433931.2_Missense_Mutation_p.R196I	NM_203446.2	NP_982271.2	O43426	SYNJ1_HUMAN	synaptojanin 1	157	SAC.						inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						CCAGAAAAATCTATTATCAGT	0.383													13	30					1.05317e-09	1.27674e-09	1	1	0	A	34072157	C	A	34072157	3	1	81	1	0	0	0	0	1	0	0	0	15509	913	32	4	4401	4	SYNJ1	21	34072157	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	26381	34072157	14057738	14448	18064											
SYNJ1	8867	broad.mit.edu	37	21	34074316	34074316	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:34074316C>T	ENST00000382499.2	-	3	282	c.283G>A	c.(283-285)Gta>Ata	p.V95I	SYNJ1_ENST00000357345.3_Missense_Mutation_p.V56I|SYNJ1_ENST00000322229.7_Missense_Mutation_p.V56I|SYNJ1_ENST00000382491.3_Missense_Mutation_p.V56I|SYNJ1_ENST00000433931.2_Missense_Mutation_p.V95I	NM_203446.2	NP_982271.2	O43426	SYNJ1_HUMAN	synaptojanin 1	56							inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						GCATCCAGTACTTTGGAGTAT	0.323													46	77					0	0	1	0	0	T	34074316	C	T	34074316	3	4	81	1	0	0	0	0	1	0	0	0	15509	565	20	2	4709	2	SYNJ1	21	34074316	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2159	34074316	14055579	14449	18065											
IFNAR2	3455	broad.mit.edu	37	21	34635762	34635762	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:34635762C>A	ENST00000342136.4	+	9	1831	c.1505C>A	c.(1504-1506)tCt>tAt	p.S502Y	AP000295.9_ENST00000433395.2_Intron|IFNAR2_ENST00000404220.3_3'UTR|IFNAR2_ENST00000382241.3_Missense_Mutation_p.S502Y|IFNAR2_ENST00000342101.3_3'UTR			P48551	INAR2_HUMAN	interferon (alpha, beta and omega) receptor 2	502					JAK-STAT cascade|regulation of type I interferon-mediated signaling pathway|response to interferon-alpha|response to virus|type I interferon-mediated signaling pathway	extracellular region|extracellular space|integral to plasma membrane	protein kinase binding|type I interferon binding|type I interferon receptor activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	11					Interferon Alfa-2a, Recombinant(DB00034)|Interferon Alfa-2b, Recombinant(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1b(DB00068)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)	AGTGACACTTCTGAGTCAGAT	0.493													7	89					0.0293803	0.0300537	1	1	0	A	34635762	C	A	34635762	3	1	81	1	0	0	0	0	1	0	0	0	7589	913	32	4	1695	4	IFNAR2	21	34635762	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	561446	34635762	13494133	14450	18066											
IL10RB	3588	broad.mit.edu	37	21	34660531	34660531	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:34660531T>G	ENST00000290200.2	+	6	877	c.769T>G	c.(769-771)Tcc>Gcc	p.S257A		NM_000628.4	NP_000619.3			interleukin 10 receptor, beta											endometrium(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	14						GTACGCCTTCTCCCCTAGGAA	0.512													32	48					0	0	1	0	0	G	34660531	T	G	34660531	3	3	81	1	0	0	0	0	1	0	0	0	7665	1551	54	5	791	5	IL10RB	21	34660531	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	24769	34660531	13469364	14451	18067											
IFNGR2	3460	broad.mit.edu	37	21	34804627	34804627	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:34804627C>T	ENST00000290219.6	+	5	1353	c.705C>T	c.(703-705)taC>taT	p.Y235Y	IFNGR2_ENST00000381995.1_Silent_p.Y254Y|IFNGR2_ENST00000405436.1_Silent_p.Y156Y	NM_005534.3	NP_005525.2	P38484	INGR2_HUMAN	interferon gamma receptor 2 (interferon gamma transducer 1)	235					regulation of interferon-gamma-mediated signaling pathway|response to virus	endoplasmic reticulum|integral to plasma membrane	interferon-gamma receptor activity			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(1)	13					Interferon gamma-1b(DB00033)	TATCTTGCTACGAAACAATGG	0.398													59	81					0	0	1	0	0	T	34804627	C	T	34804627	2	4	81	1	0	0	0	0	0	0	0	1	7594	547	19	1		1	IFNGR2	21	34804627	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	144096	34804627	13325268	14452	18068											
GART	2618	broad.mit.edu	37	21	34900595	34900595	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:34900595G>A	ENST00000381831.3	-	10	1207	c.944C>T	c.(943-945)tCc>tTc	p.S315F	GART_ENST00000361093.5_Missense_Mutation_p.S315F|GART_ENST00000381839.3_Missense_Mutation_p.S315F|GART_ENST00000381815.4_Missense_Mutation_p.S315F	NM_001136005.1	NP_001129477.1	P22102	PUR2_HUMAN	phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase	315	ATP-grasp.				'de novo' IMP biosynthetic process|purine base biosynthetic process	cytosol	ATP binding|metal ion binding|methyltransferase activity|phosphoribosylamine-glycine ligase activity|phosphoribosylformylglycinamidine cyclo-ligase activity|phosphoribosylglycinamide formyltransferase activity|protein binding			NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(13)|ovary(3)|prostate(5)|urinary_tract(1)	31					Pemetrexed(DB00642)	ATCTAAGGTGGACTGAATCAC	0.423													23	43					0	0	1	0	0	A	34900595	G	A	34900595	3	1	81	1	0	0	0	0	1	0	0	0	6283	1174	41	2	2144	2	GART	21	34900595	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	95968	34900595	13229300	14453	18069											
GART	2618	broad.mit.edu	37	21	34907045	34907045	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:34907045G>T	ENST00000381831.3	-	4	519	c.256C>A	c.(256-258)Ctg>Atg	p.L86M	GART_ENST00000361093.5_Missense_Mutation_p.L86M|GART_ENST00000381839.3_Missense_Mutation_p.L86M|GART_ENST00000381815.4_Missense_Mutation_p.L86M	NM_001136005.1	NP_001129477.1	P22102	PUR2_HUMAN	phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase	86					'de novo' IMP biosynthetic process|purine base biosynthetic process	cytosol	ATP binding|metal ion binding|methyltransferase activity|phosphoribosylamine-glycine ligase activity|phosphoribosylformylglycinamidine cyclo-ligase activity|phosphoribosylglycinamide formyltransferase activity|protein binding			NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(13)|ovary(3)|prostate(5)|urinary_tract(1)	31					Pemetrexed(DB00642)	GCAGACCTCAGGTTCCCAACA	0.473													14	29					3.27435e-08	3.88014e-08	1	1	0	T	34907045	G	T	34907045	3	4	81	1	0	0	0	0	1	0	0	0	6283	991	35	4	2856	4	GART	21	34907045	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	6450	34907045	13222850	14454	18070											
GART	2618	broad.mit.edu	37	21	34911618	34911618	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:34911618C>T	ENST00000381831.3	-	2	267	c.4G>A	c.(4-6)Gca>Aca	p.A2T	GART_ENST00000361093.5_Missense_Mutation_p.A2T|GART_ENST00000381839.3_Missense_Mutation_p.A2T|GART_ENST00000381815.4_Missense_Mutation_p.A2T	NM_001136005.1	NP_001129477.1	P22102	PUR2_HUMAN	phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase	2					'de novo' IMP biosynthetic process|purine base biosynthetic process	cytosol	ATP binding|metal ion binding|methyltransferase activity|phosphoribosylamine-glycine ligase activity|phosphoribosylformylglycinamidine cyclo-ligase activity|phosphoribosylglycinamide formyltransferase activity|protein binding			NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(13)|ovary(3)|prostate(5)|urinary_tract(1)	31					Pemetrexed(DB00642)	ACTCGGGCTGCCATTGTTCTG	0.443													4	59					0	0	1	0	0	T	34911618	C	T	34911618	3	4	81	1	0	0	0	0	1	0	0	0	6283	739	26	2	3116	2	GART	21	34911618	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	4573	34911618	13218277	14455	18071											
SON	6651	broad.mit.edu	37	21	34939572	34939572	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:34939572G>T	ENST00000356577.4	+	7	7242	c.6767G>T	c.(6766-6768)aGg>aTg	p.R2256M	SON_ENST00000381692.2_Splice_Site_p.R284M|SON_ENST00000290239.6_Splice_Site_p.R2256M	NM_138927.1	NP_620305	P18583	SON_HUMAN	SON DNA binding protein	2256					anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding			breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						GCTCAGGAAAGGGTATGTAGC	0.353													9	39					0.0581538	0.0592525	1	1	0	T	34939572	G	T	34939572	5	4	81	1	0	0	0	0	0	0	1	0	14980	1014	35	4	7052	4	SON	21	34939572	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	27954	34939572	13190323	14456	18072											
CRYZL1	9946	broad.mit.edu	37	21	34975779	34975779	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:34975779G>T	ENST00000361534.2	-	8	607	c.468C>A	c.(466-468)gcC>gcA	p.A156A	CRYZL1_ENST00000445393.1_Silent_p.A94A|AP000304.12_ENST00000429238.1_Intron|CRYZL1_ENST00000381540.3_Silent_p.A132A|CRYZL1_ENST00000381554.3_Silent_p.A132A|CRYZL1_ENST00000290244.5_Silent_p.A117A			O95825	QORL1_HUMAN	crystallin, zeta (quinone reductase)-like 1	132					quinone cofactor metabolic process	cytosol	NADP binding|NADPH:quinone reductase activity|zinc ion binding			lung(1)|prostate(1)|urinary_tract(1)	3						GAGCTGTATAGGCACGCACTC	0.418													9	129					0.0692343	0.0705186	1	1	0	T	34975779	G	T	34975779	2	4	81	1	0	0	0	0	0	0	0	1	3946	987	35	4		4	CRYZL1	21	34975779	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	36207	34975779	13154116	14457	18073											
CRYZL1	9946	broad.mit.edu	37	21	34985901	34985901	+	Missense_Mutation	SNP	G	G	T	rs147398519		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:34985901G>T	ENST00000361534.2	-	7	485	c.346C>A	c.(346-348)Ctg>Atg	p.L116M	CRYZL1_ENST00000445393.1_Intron|AP000304.12_ENST00000429238.1_Intron|CRYZL1_ENST00000381540.3_Missense_Mutation_p.L92M|CRYZL1_ENST00000381554.3_Missense_Mutation_p.L92M|CRYZL1_ENST00000290244.5_Missense_Mutation_p.L77M			O95825	QORL1_HUMAN	crystallin, zeta (quinone reductase)-like 1	92					quinone cofactor metabolic process	cytosol	NADP binding|NADPH:quinone reductase activity|zinc ion binding			lung(1)|prostate(1)|urinary_tract(1)	3						TCAGAGTCCAGGGGCAAAATT	0.358											OREG0003568	type=REGULATORY REGION|Gene=CRYZL1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	6	74					0.0215528	0.0221217	1	1	0	T	34985901	G	T	34985901	3	4	81	1	0	0	0	0	1	0	0	0	3946	991	35	4	807	4	CRYZL1	21	34985901	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	10122	34985901	13143994	14458	18074											
ITSN1	6453	broad.mit.edu	37	21	35169735	35169735	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:35169735G>A	ENST00000381318.3	+	18	2293	c.2005G>A	c.(2005-2007)Gag>Aag	p.E669K	ITSN1_ENST00000399326.3_Missense_Mutation_p.E669K|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000399367.3_Missense_Mutation_p.E669K|ITSN1_ENST00000379960.5_Missense_Mutation_p.E669K|ITSN1_ENST00000381285.4_Missense_Mutation_p.E669K|ITSN1_ENST00000399355.2_Missense_Mutation_p.E669K|ITSN1_ENST00000399349.1_Missense_Mutation_p.E669K|ITSN1_ENST00000437442.2_Missense_Mutation_p.E669K|ITSN1_ENST00000381291.4_Missense_Mutation_p.E669K|ITSN1_ENST00000399352.1_Missense_Mutation_p.E669K|ITSN1_ENST00000399338.4_Missense_Mutation_p.E669K|ITSN1_ENST00000399353.1_Missense_Mutation_p.E632K	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	669	KLERQ.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						GCAGGAGGACGAGCATCAGAG	0.478													10	100					0	0	1	0	0	A	35169735	G	A	35169735	3	1	81	1	0	0	0	0	1	0	0	0	7970	1059	37	1	2071	1	ITSN1	21	35169735	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	183834	35169735	12960160	14459	18075											
ITSN1	6453	broad.mit.edu	37	21	35186340	35186340	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:35186340G>A	ENST00000381318.3	+	22	2979	c.2691G>A	c.(2689-2691)acG>acA	p.T897T	ITSN1_ENST00000399326.3_Silent_p.T892T|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000399367.3_Silent_p.T892T|ITSN1_ENST00000379960.5_Silent_p.T892T|ITSN1_ENST00000381285.4_Silent_p.T897T|ITSN1_ENST00000399355.2_Silent_p.T897T|ITSN1_ENST00000399349.1_Silent_p.T892T|ITSN1_ENST00000437442.2_Silent_p.T892T|ITSN1_ENST00000381291.4_Silent_p.T897T|ITSN1_ENST00000399352.1_Silent_p.T892T|ITSN1_ENST00000399338.4_Silent_p.T892T|ITSN1_ENST00000399353.1_Silent_p.T855T	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	897					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						CTCCAGCCACGGCCACTGGCT	0.562													17	23					0	0	1	0	0	A	35186340	G	A	35186340	2	1	81	1	0	0	0	0	0	0	0	1	7970	1103	39	1		1	ITSN1	21	35186340	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	16605	35186340	12943555	14460	18076											
ITSN1	6453	broad.mit.edu	37	21	35208937	35208937	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:35208937G>A	ENST00000381318.3	+	29	3949		c.e29+1		ITSN1_ENST00000399326.3_Splice_Site|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000399367.3_Splice_Site|ITSN1_ENST00000379960.5_Splice_Site|ITSN1_ENST00000381285.4_Splice_Site|ITSN1_ENST00000399355.2_Splice_Site|ITSN1_ENST00000399349.1_Splice_Site|ITSN1_ENST00000437442.2_Splice_Site|ITSN1_ENST00000381291.4_Splice_Site|ITSN1_ENST00000399352.1_Splice_Site|ITSN1_ENST00000399353.1_Splice_Site	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)						apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						AGCCAGCAATGTAAGTGCCCT	0.507													16	41					0	0	1	0	0	A	35208937	G	A	35208937	5	1	81	1	0	0	0	0	0	0	1	0	7970	1391	48	2	3772	2	ITSN1	21	35208937	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	22597	35208937	12920958	14461	18077											
ITSN1	6453	broad.mit.edu	37	21	35255925	35255925	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:35255925C>A	ENST00000381318.3	+	36	4914	c.4626C>A	c.(4624-4626)atC>atA	p.I1542I	ITSN1_ENST00000399326.3_3'UTR|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000399367.3_Silent_p.I1537I|ITSN1_ENST00000381285.4_Silent_p.I1542I|ITSN1_ENST00000437442.2_Silent_p.I1481I	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	1542	PH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						TCTTCCACATCTCCCACATTG	0.517													6	92					3.59834e-05	3.99423e-05	1	1	0	A	35255925	C	A	35255925	2	1	81	1	0	0	0	0	0	0	0	1	7970	903	32	4		4	ITSN1	21	35255925	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	46988	35255925	12873970	14462	18078											
SLC5A3	6526	broad.mit.edu	37	21	35468352	35468352	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:35468352G>A	ENST00000608209.1	+	2	1367	c.855G>A	c.(853-855)agG>agA	p.R285R	AP000320.7_ENST00000362077.4_RNA|MRPS6_ENST00000399312.2_Intron|SLC5A3_ENST00000381151.3_Silent_p.R285R	NM_006933.4	NP_008864.3	P53794	SC5A3_HUMAN	solute carrier family 5 (sodium/myo-inositol cotransporter), member 3			Implicated in sodium coupling (By similarity).				integral to plasma membrane	myo-inositol:sodium symporter activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	20						TCGTGCAGAGGGTCCTTGCAG	0.483													41	55					0	0	1	0	0	A	35468352	G	A	35468352	2	1	81	1	0	0	0	0	0	0	0	1	14721	1223	43	2		2	SLC5A3	21	35468352	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	212427	35468352	12661543	14463	18079											
SLC5A3	6526	broad.mit.edu	37	21	35468499	35468499	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:35468499G>T	ENST00000608209.1	+	2	1514	c.1002G>T	c.(1000-1002)gaG>gaT	p.E334D	AP000320.7_ENST00000362077.4_RNA|MRPS6_ENST00000399312.2_Intron|SLC5A3_ENST00000381151.3_Missense_Mutation_p.E334D	NM_006933.4	NP_008864.3	P53794	SC5A3_HUMAN	solute carrier family 5 (sodium/myo-inositol cotransporter), member 3							integral to plasma membrane	myo-inositol:sodium symporter activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	20						TCAACCCAGAGCACTGCATGC	0.483													61	58					7.50695e-29	9.98943e-29	1	1	0	T	35468499	G	T	35468499	3	4	81	1	0	0	0	0	1	0	0	0	14721	962	34	4	1004	4	SLC5A3	21	35468499	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	147	35468499	12661396	14464	18080											
SLC5A3	6526	broad.mit.edu	37	21	35468959	35468959	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:35468959G>A	ENST00000608209.1	+	2	1974	c.1462G>A	c.(1462-1464)Gcc>Acc	p.A488T	AP000320.7_ENST00000362077.4_RNA|MRPS6_ENST00000399312.2_Intron|SLC5A3_ENST00000381151.3_Missense_Mutation_p.A488T	NM_006933.4	NP_008864.3	P53794	SC5A3_HUMAN	solute carrier family 5 (sodium/myo-inositol cotransporter), member 3							integral to plasma membrane	myo-inositol:sodium symporter activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	20						TTTGATACTGGCCTTTGCCTA	0.488													33	59					0	0	1	0	0	A	35468959	G	A	35468959	3	1	81	1	0	0	0	0	1	0	0	0	14721	1203	42	2	1464	2	SLC5A3	21	35468959	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	460	35468959	12660936	14465	18081											
RCAN1	1827	broad.mit.edu	37	21	35890511	35890511	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:35890511G>A	ENST00000481448.1	-	5	1086	c.600C>T	c.(598-600)agC>agT	p.S200S	RCAN1_ENST00000399272.1_Silent_p.S129S|RCAN1_ENST00000489903.1_5'UTR|RCAN1_ENST00000443408.2_Silent_p.S75S|RCAN1_ENST00000313806.4_Silent_p.S210S|RCAN1_ENST00000381135.3_Silent_p.S200S|RCAN1_ENST00000482533.1_Silent_p.S75S|RCAN1_ENST00000381132.2_Silent_p.S155S|RCAN1_ENST00000487990.1_Silent_p.S75S			P53805	RCAN1_HUMAN	regulator of calcineurin 1	210					blood circulation|calcium-mediated signaling|central nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|kidney(1)|large_intestine(1)|lung(2)	5						GGACCACCACGCTGGGAGTGG	0.488													21	37					0	0	1	0	0	A	35890511	G	A	35890511	2	1	81	1	0	0	0	0	0	0	0	1	13220	1078	38	1		1	RCAN1	21	35890511	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	421552	35890511	12239384	14466	18082											
RUNX1	861	broad.mit.edu	37	21	36228737	36228737	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:36228737C>T	ENST00000486278.2	-	7	764	c.549G>A	c.(547-549)ttG>ttA	p.L183L	RUNX1_ENST00000358356.5_Intron|RUNX1_ENST00000344691.4_Intron|RUNX1_ENST00000325074.5_Intron|RUNX1_ENST00000437180.1_Intron|RUNX1_ENST00000300305.3_Intron|RUNX1_ENST00000399240.1_Intron			Q01196	RUNX1_HUMAN	runt-related transcription factor 1	353					myeloid cell differentiation|negative regulation of granulocyte differentiation|positive regulation of angiogenesis|positive regulation of granulocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|calcium ion binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding			breast(5)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(428)|large_intestine(3)|lung(6)|oesophagus(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	452						gaggccaggtcaaagagTCTA	0.398			T	"RPL22, MDS1, EVI1, CBFA2T3, CBFA2T1, ETV6, LAF4"	"AML, preB- ALL, T-ALL"								9	38					0	0	1	0	0	T	36228737	C	T	36228737	2	4	81	1	0	0	0	0	0	0	0	1	13798	841	29	2		2	RUNX1	21	36228737	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	338226	36228737	11901158	14467	18083											
RUNX1	861	broad.mit.edu	37	21	36259226	36259226	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:36259226G>A	ENST00000344691.4	-	1	1761	c.184C>T	c.(184-186)Ctg>Ttg	p.L62L	RUNX1_ENST00000358356.5_Silent_p.L62L|RUNX1_ENST00000325074.5_Silent_p.L77L|RUNX1_ENST00000486278.2_Silent_p.L65L|RUNX1_ENST00000437180.1_Silent_p.L89L|RUNX1_ENST00000300305.3_Silent_p.L89L|RUNX1_ENST00000399240.1_Silent_p.L62L	NM_001001890.2	NP_001001890.1	Q01196	RUNX1_HUMAN	runt-related transcription factor 1	62	Runt.				myeloid cell differentiation|negative regulation of granulocyte differentiation|positive regulation of angiogenesis|positive regulation of granulocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|calcium ion binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding			breast(5)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(428)|large_intestine(3)|lung(6)|oesophagus(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	452						GTGCGCACCAGCTCGCCCGGG	0.711			T	"RPL22, MDS1, EVI1, CBFA2T3, CBFA2T1, ETV6, LAF4"	"AML, preB- ALL, T-ALL"								10	21					0	0	1	0	0	A	36259226	G	A	36259226	2	1	81	1	0	0	0	0	0	0	0	1	13798	962	34	2		2	RUNX1	21	36259226	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	30489	36259226	11870669	14468	18084											
CBR3	874	broad.mit.edu	37	21	37510183	37510183	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:37510183C>T	ENST00000290354.5	+	2	631	c.350C>T	c.(349-351)gCc>gTc	p.A117V	CBR3-AS1_ENST00000413862.1_RNA|CBR3-AS1_ENST00000453159.1_RNA|CBR3-AS1_ENST00000608690.1_RNA|CBR3-AS1_ENST00000608632.1_RNA|CBR3-AS1_ENST00000608641.1_RNA|CBR3-AS1_ENST00000608622.1_RNA	NM_001236.3	NP_001227.1	O75828	CBR3_HUMAN	carbonyl reductase 3	117						cytosol|nucleus	carbonyl reductase (NADPH) activity|NADPH binding			kidney(1)|large_intestine(1)|lung(1)	3						AATTTTTTTGCCACTAGAAAC	0.403													40	66					0	0	1	0	0	T	37510183	C	T	37510183	3	4	81	1	0	0	0	0	1	0	0	0	2727	739	26	2	356	2	CBR3	21	37510183	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1250957	37510183	10619712	14469	18085											
DOPEY2	9980	broad.mit.edu	37	21	37583875	37583875	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:37583875T>C	ENST00000399151.3	+	6	791	c.706T>C	c.(706-708)Ttg>Ctg	p.L236L	DOPEY2_ENST00000492760.1_3'UTR	NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	236					endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						TGCCTCCCTGTTGGACTCAAA	0.398													43	77					0	0	1	0	0	C	37583875	T	C	37583875	2	2	81	1	0	0	0	0	0	0	0	1	4735	1722	60	3		3	DOPEY2	21	37583875	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	73692	37583875	10546020	14470	18086											
DOPEY2	9980	broad.mit.edu	37	21	37618055	37618055	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:37618055C>T	ENST00000399151.3	+	19	3862	c.3777C>T	c.(3775-3777)atC>atT	p.I1259I		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	1259					endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						AGGAATTCATCGAGGCTGTGT	0.592													18	25					0	0	1	0	0	T	37618055	C	T	37618055	2	4	81	1	0	0	0	0	0	0	0	1	4735	874	31	1		1	DOPEY2	21	37618055	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	34180	37618055	10511840	14471	18087											
DOPEY2	9980	broad.mit.edu	37	21	37618224	37618224	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:37618224A>G	ENST00000399151.3	+	19	4031	c.3946A>G	c.(3946-3948)Acc>Gcc	p.T1316A		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	1316					endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						GGAGCTGCTCACCTACCTCTG	0.597													40	74					0	0	1	0	0	G	37618224	A	G	37618224	3	3	81	1	0	0	0	0	1	0	0	0	4735	159	6	3	4016	3	DOPEY2	21	37618224	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	169	37618224	10511671	14472	18088											
MORC3	23515	broad.mit.edu	37	21	37710068	37710068	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:37710068T>C	ENST00000400485.1	+	4	360	c.284T>C	c.(283-285)gTc>gCc	p.V95A	MORC3_ENST00000487909.1_3'UTR	NM_015358.2	NP_056173.1	Q14149	MORC3_HUMAN	MORC family CW-type zinc finger 3	95					cell aging|maintenance of protein location in nucleus|negative regulation of fibroblast proliferation|peptidyl-serine phosphorylation|protein stabilization	aggresome|intermediate filament cytoskeleton|PML body	ATP binding|zinc ion binding			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	35						AATGGTCATGTCCCAGTTGGA	0.353													32	41					0	0	1	0	0	C	37710068	T	C	37710068	3	2	81	1	0	0	0	0	1	0	0	0	9752	1667	58	3	298	3	MORC3	21	37710068	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	91844	37710068	10419827	14473	18089											
MORC3	23515	broad.mit.edu	37	21	37710107	37710107	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:37710107C>A	ENST00000400485.1	+	4	399	c.323C>A	c.(322-324)tCt>tAt	p.S108Y	MORC3_ENST00000487909.1_3'UTR	NM_015358.2	NP_056173.1	Q14149	MORC3_HUMAN	MORC family CW-type zinc finger 3	108					cell aging|maintenance of protein location in nucleus|negative regulation of fibroblast proliferation|peptidyl-serine phosphorylation|protein stabilization	aggresome|intermediate filament cytoskeleton|PML body	ATP binding|zinc ion binding			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	35						AAGTCGGGTTCTATGCGTCTG	0.423													28	60					2.12542e-12	2.65769e-12	1	1	0	A	37710107	C	A	37710107	3	1	81	1	0	0	0	0	1	0	0	0	9752	913	32	4	337	4	MORC3	21	37710107	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	39	37710107	10419788	14474	18090											
MORC3	23515	broad.mit.edu	37	21	37736539	37736539	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:37736539C>A	ENST00000400485.1	+	14	1677	c.1601C>A	c.(1600-1602)tCt>tAt	p.S534Y	MORC3_ENST00000487909.1_3'UTR	NM_015358.2	NP_056173.1	Q14149	MORC3_HUMAN	MORC family CW-type zinc finger 3	534					cell aging|maintenance of protein location in nucleus|negative regulation of fibroblast proliferation|peptidyl-serine phosphorylation|protein stabilization	aggresome|intermediate filament cytoskeleton|PML body	ATP binding|zinc ion binding			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	35						CCACCTCAGTCTGAACCTGAG	0.388													7	44					1.06961e-07	1.25755e-07	1	1	0	A	37736539	C	A	37736539	3	1	81	1	0	0	0	0	1	0	0	0	9752	913	32	4	1655	4	MORC3	21	37736539	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	26432	37736539	10393356	14475	18091											
SIM2	6493	broad.mit.edu	37	21	38095361	38095361	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:38095361G>T	ENST00000290399.6	+	5	1086	c.473G>T	c.(472-474)aGg>aTg	p.R158M	SIM2_ENST00000430056.3_Missense_Mutation_p.R158M	NM_005069.3	NP_005060.1	Q14190	SIM2_HUMAN	single-minded family bHLH transcription factor 2	158					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(2)	16						GAGATAGAGAGGTCGTTCTTT	0.557													8	79					0.000442599	0.000477972	1	1	0	T	38095361	G	T	38095361	3	4	81	1	0	0	0	0	1	0	0	0	14379	1000	35	4	491	4	SIM2	21	38095361	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	358822	38095361	10034534	14476	18092											
HLCS	3141	broad.mit.edu	37	21	38128859	38128859	+	Nonsense_Mutation	SNP	G	G	A	rs146448211	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:38128859G>A	ENST00000399120.1	-	11	3223	c.1993C>T	c.(1993-1995)Cga>Tga	p.R665*	HLCS_ENST00000336648.4_Nonsense_Mutation_p.R665*	NM_001242784.1	NP_001229713.1	P50747	BPL1_HUMAN	holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)	665					cell proliferation|histone biotinylation|response to biotin	chromatin|cytosol|mitochondrion|nuclear lamina|nuclear matrix	ATP binding|biotin binding|biotin-[acetyl-CoA-carboxylase] ligase activity|biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity|biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity|biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity|enzyme binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(46;0.0422)			Biotin(DB00121)	ACCCAGTATCGGTAATAAAGG	0.408													36	54					0	0	1	0	0	A	38128859	G	A	38128859	4	1	81	1	0	0	0	0	0	1	0	0	7254	1124	39	1	195	1	HLCS	21	38128859	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	33498	38128859	10001036	14477	18093											
HLCS	3141	broad.mit.edu	37	21	38128917	38128917	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:38128917C>A	ENST00000399120.1	-	11	3165	c.1935G>T	c.(1933-1935)gaG>gaT	p.E645D	HLCS_ENST00000336648.4_Missense_Mutation_p.E645D	NM_001242784.1	NP_001229713.1	P50747	BPL1_HUMAN	holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)	645					cell proliferation|histone biotinylation|response to biotin	chromatin|cytosol|mitochondrion|nuclear lamina|nuclear matrix	ATP binding|biotin binding|biotin-[acetyl-CoA-carboxylase] ligase activity|biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity|biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity|biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity|enzyme binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(46;0.0422)			Biotin(DB00121)	TGATCAGTTTCTCCAGCACAG	0.478													52	80					3.21867e-24	4.24811e-24	1	1	0	A	38128917	C	A	38128917	3	1	81	1	0	0	0	0	1	0	0	0	7254	912	32	4	253	4	HLCS	21	38128917	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	58	38128917	10000978	14478	18094											
HLCS	3141	broad.mit.edu	37	21	38309032	38309032	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:38309032G>A	ENST00000399120.1	-	5	1943	c.713C>T	c.(712-714)tCt>tTt	p.S238F	HLCS_ENST00000336648.4_Missense_Mutation_p.S238F	NM_001242784.1	NP_001229713.1	P50747	BPL1_HUMAN	holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)	238					cell proliferation|histone biotinylation|response to biotin	chromatin|cytosol|mitochondrion|nuclear lamina|nuclear matrix	ATP binding|biotin binding|biotin-[acetyl-CoA-carboxylase] ligase activity|biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity|biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity|biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity|enzyme binding	p.S238F(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(46;0.0422)			Biotin(DB00121)	CCCTCCCTGAGAAAGATAGGC	0.532													22	27					0	0	1	0	0	A	38309032	G	A	38309032	3	1	81	1	0	0	0	0	1	0	0	0	7254	942	33	2	1499	2	HLCS	21	38309032	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	180115	38309032	9820863	14479	18095											
HLCS	3141	broad.mit.edu	37	21	38309235	38309235	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:38309235G>A	ENST00000399120.1	-	5	1740	c.510C>T	c.(508-510)tcC>tcT	p.S170S	HLCS_ENST00000336648.4_Silent_p.S170S	NM_001242784.1	NP_001229713.1	P50747	BPL1_HUMAN	holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)	170					cell proliferation|histone biotinylation|response to biotin	chromatin|cytosol|mitochondrion|nuclear lamina|nuclear matrix	ATP binding|biotin binding|biotin-[acetyl-CoA-carboxylase] ligase activity|biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity|biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity|biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity|enzyme binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(46;0.0422)			Biotin(DB00121)	CCTGGGAGTCGGAGCCCACAT	0.577													18	24					0	0	1	0	0	A	38309235	G	A	38309235	2	1	81	1	0	0	0	0	0	0	0	1	7254	1103	39	1		1	HLCS	21	38309235	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	203	38309235	9820660	14480	18096											
TTC3	7267	broad.mit.edu	37	21	38560897	38560897	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:38560897G>A	ENST00000399017.2	+	39	7771		c.e39+1		TTC3-AS1_ENST00000424733.1_RNA|TTC3_ENST00000355666.1_Splice_Site|TTC3_ENST00000354749.2_Splice_Site|TTC3_ENST00000479930.1_Splice_Site	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3						protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				TGATTAGCCGGTATTGCAGTT	0.393													10	25					0	0	1	0	0	A	38560897	G	A	38560897	5	1	81	1	0	0	0	0	0	0	1	0	16759	1275	44	2	5175	2	TTC3	21	38560897	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	251662	38560897	9568998	14481	18097											
TTC3	7267	broad.mit.edu	37	21	38569870	38569870	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:38569870G>T	ENST00000399017.2	+	43	8326		c.e43-1		TTC3_ENST00000355666.1_Splice_Site|TTC3_ENST00000354749.2_Splice_Site|TTC3_ENST00000479930.1_Splice_Site	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3						protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				CTCCCTTTCAGCACTGAGCTT	0.378													20	44					4.63292e-17	5.96565e-17	1	1	0	T	38569870	G	T	38569870	5	4	81	1	0	0	0	0	0	0	1	0	16759	985	34	4	5745	4	TTC3	21	38569870	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	8973	38569870	9560025	14482	18098											
DSCR3	10311	broad.mit.edu	37	21	38610792	38610792	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:38610792T>C	ENST00000288304.5	-	3	986	c.194A>G	c.(193-195)gAg>gGg	p.E65G	DSCR3_ENST00000539844.1_Intron|DSCR3_ENST00000476950.1_Missense_Mutation_p.E107G|DSCR3_ENST00000399001.1_Intron|DSCR3_ENST00000309117.6_Missense_Mutation_p.E107G|DSCR3_ENST00000398998.1_Missense_Mutation_p.E59G|DSCR3_ENST00000399000.3_5'UTR			O14972	DSCR3_HUMAN	Down syndrome critical region gene 3	107					vacuolar transport	nucleus|retromer complex				endometrium(2)|kidney(1)|large_intestine(3)|lung(3)	9						ATGATACGTCTCATACAGAAC	0.453													6	161					0	0	1	0	0	C	38610792	T	C	38610792	3	2	81	1	0	0	0	0	1	0	0	0	4797	1551	54	3	597	3	DSCR3	21	38610792	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	40922	38610792	9519103	14483	18099											
DYRK1A	1859	broad.mit.edu	37	21	38845169	38845169	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:38845169C>A	ENST00000339659.4	+	2	1664	c.194C>A	c.(193-195)cCt>cAt	p.P65H	DYRK1A_ENST00000462274.1_3'UTR|DYRK1A_ENST00000451934.1_Missense_Mutation_p.P65H|DYRK1A_ENST00000398956.2_Missense_Mutation_p.P65H|DYRK1A_ENST00000338785.3_Missense_Mutation_p.P65H|DYRK1A_ENST00000398960.2_Missense_Mutation_p.P65H|DYRK1A_ENST00000321219.8_Missense_Mutation_p.P65H	NM_130436.2	NP_569120.1	Q13627	DYR1A_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A						nervous system development|peptidyl-tyrosine phosphorylation|protein autophosphorylation	nuclear speck	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding|protein self-association|protein serine/threonine kinase activity			breast(4)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						ATTCAGCAACCTCTAACTAAC	0.408													6	100					0.0215528	0.0221217	1	1	0	A	38845169	C	A	38845169	3	1	81	1	0	0	0	0	1	0	0	0	4880	681	24	4	200	4	DYRK1A	21	38845169	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	234377	38845169	9284726	14484	18100											
DYRK1A	1859	broad.mit.edu	37	21	38884408	38884408	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:38884408A>C	ENST00000339659.4	+	11	3309	c.1839A>C	c.(1837-1839)caA>caC	p.Q613H	DYRK1A_ENST00000338785.3_3'UTR|DYRK1A_ENST00000398960.2_Missense_Mutation_p.Q622H|DYRK1A_ENST00000455387.2_Missense_Mutation_p.Q394H	NM_130436.2	NP_569120.1	Q13627	DYR1A_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A		Poly-His.				nervous system development|peptidyl-tyrosine phosphorylation|protein autophosphorylation	nuclear speck	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding|protein self-association|protein serine/threonine kinase activity			breast(4)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						atGGACAACAAGCCTTGGGTA	0.512													3	46					0	0	1	0	0	C	38884408	A	C	38884408	3	2	81	1	0	0	0	0	1	0	0	0	4880	69	3	5	1992	5	DYRK1A	21	38884408	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	39239	38884408	9245487	14485	18101											
KCNJ6	3763	broad.mit.edu	37	21	39087049	39087049	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:39087049G>A	ENST00000609713.1	-	3	1000	c.411C>T	c.(409-411)aaC>aaT	p.N137N	KCNJ6_ENST00000288309.6_Silent_p.N137N	NM_002240.3	NP_002231.1	P48051	IRK6_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 6						synaptic transmission	Golgi apparatus|voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22					Halothane(DB01159)	AGACGAACCCGTTGAGGTTGG	0.468													33	58					0	0	1	0	0	A	39087049	G	A	39087049	2	1	81	1	0	0	0	0	0	0	0	1	8099	1136	40	1		1	KCNJ6	21	39087049	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	202641	39087049	9042846	14486	18102											
BRWD1	54014	broad.mit.edu	37	21	40568686	40568686	+	Silent	SNP	G	G	T	rs143446666		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:40568686G>T	ENST00000342449.3	-	41	6387	c.6309C>A	c.(6307-6309)acC>acA	p.T2103T	BRWD1_ENST00000333229.2_Silent_p.T2103T|BRWD1_ENST00000380800.3_Silent_p.T2103T	NM_033656.3	NP_387505.1	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	2103					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				CCTTTCCATAGGTCCTGAGTC	0.423													14	205					1.05317e-09	1.27674e-09	1	1	0	T	40568686	G	T	40568686	2	4	81	1	0	0	0	0	0	0	0	1	1527	987	35	4		4	BRWD1	21	40568686	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1481637	40568686	7561209	14487	18103											
BRWD1	54014	broad.mit.edu	37	21	40572205	40572205	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:40572205C>T	ENST00000342449.3	-	39	4771	c.4693G>A	c.(4693-4695)Ggg>Agg	p.G1565R	BRWD1_ENST00000333229.2_Missense_Mutation_p.G1565R|BRWD1_ENST00000380800.3_Missense_Mutation_p.G1565R	NM_033656.3	NP_387505.1	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	1565					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				CTGGATAGCCCACTGCGTGAG	0.438													31	57					0	0	1	0	0	T	40572205	C	T	40572205	3	4	81	1	0	0	0	0	1	0	0	0	1527	594	21	2	2524	2	BRWD1	21	40572205	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3519	40572205	7557690	14488	18104											
BRWD1	54014	broad.mit.edu	37	21	40578093	40578093	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:40578093G>C	ENST00000342449.3	-	37	4383	c.4305C>G	c.(4303-4305)agC>agG	p.S1435R	BRWD1_ENST00000333229.2_Missense_Mutation_p.S1435R|BRWD1_ENST00000380800.3_Missense_Mutation_p.S1435R	NM_033656.3	NP_387505.1	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	1435					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				TGAACCTCTGGCTTCTTCGAA	0.323													70	102					0	0	1	0	0	C	40578093	G	C	40578093	3	2	81	1	0	0	0	0	1	0	0	0	1527	1194	42	5	2920	5	BRWD1	21	40578093	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	5888	40578093	7551802	14489	18105											
BRWD1	54014	broad.mit.edu	37	21	40587227	40587227	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:40587227C>T	ENST00000342449.3	-	32	3799	c.3721G>A	c.(3721-3723)Gaa>Aaa	p.E1241K	BRWD1_ENST00000333229.2_Missense_Mutation_p.E1241K|BRWD1_ENST00000380800.3_Missense_Mutation_p.E1241K	NM_033656.3	NP_387505.1	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	1241	Bromo 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				CTCTCAGGTTCGTTAAATGTT	0.328													30	29					0	0	1	0	0	T	40587227	C	T	40587227	3	4	81	1	0	0	0	0	1	0	0	0	1527	893	31	1	3524	1	BRWD1	21	40587227	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	9134	40587227	7542668	14490	18106											
BRWD1	54014	broad.mit.edu	37	21	40610438	40610438	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:40610438T>C	ENST00000342449.3	-	22	2621	c.2543A>G	c.(2542-2544)gAc>gGc	p.D848G	BRWD1_ENST00000333229.2_Missense_Mutation_p.D848G|BRWD1_ENST00000380800.3_Missense_Mutation_p.D848G	NM_033656.3	NP_387505.1	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	848					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				ACTTTTTCTGTCACTTCTCCA	0.383													29	39					0	0	1	0	0	C	40610438	T	C	40610438	3	2	81	1	0	0	0	0	1	0	0	0	1527	1667	58	3	4742	3	BRWD1	21	40610438	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	23211	40610438	7519457	14491	18107											
BRWD1	54014	broad.mit.edu	37	21	40630542	40630542	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:40630542G>A	ENST00000342449.3	-	18	2020	c.1942C>T	c.(1942-1944)Cgc>Tgc	p.R648C	BRWD1_ENST00000333229.2_Missense_Mutation_p.R648C|BRWD1_ENST00000380800.3_Missense_Mutation_p.R648C	NM_033656.3	NP_387505.1	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	648					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				TCTGGGCTGCGTTCATCATTA	0.368													52	78					0	0	1	0	0	A	40630542	G	A	40630542	3	1	81	1	0	0	0	0	1	0	0	0	1527	1145	40	1	5359	1	BRWD1	21	40630542	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	20104	40630542	7499353	14492	18108											
BRWD1	54014	broad.mit.edu	37	21	40670402	40670402	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:40670402G>T	ENST00000342449.3	-	5	383	c.305C>A	c.(304-306)tCt>tAt	p.S102Y	BRWD1_ENST00000333229.2_Missense_Mutation_p.S102Y|BRWD1_ENST00000341322.4_Missense_Mutation_p.S102Y|BRWD1_ENST00000380800.3_Missense_Mutation_p.S102Y|BRWD1_ENST00000470108.1_5'UTR	NM_033656.3	NP_387505.1	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	102					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		p.S102Y(2)		cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				ACCAAGTAAAGAAGTGACTCT	0.388													9	165					0.0581538	0.0592525	1	1	0	T	40670402	G	T	40670402	3	4	81	1	0	0	0	0	1	0	0	0	1527	942	33	4	7062	4	BRWD1	21	40670402	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	39860	40670402	7459493	14493	18109											
BRWD1	54014	broad.mit.edu	37	21	40685224	40685224	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:40685224C>A	ENST00000342449.3	-	2	129	c.51G>T	c.(49-51)gaG>gaT	p.E17D	BRWD1_ENST00000333229.2_Splice_Site_p.E17D|BRWD1_ENST00000341322.4_Splice_Site_p.E17D|BRWD1_ENST00000380800.3_Splice_Site_p.E17D|BRWD1_ENST00000470108.1_5'UTR	NM_033656.3	NP_387505.1	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	17					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				GGAAGTACAGCTCTGCGGGAA	0.741													3	4					4.096e-09	4.9227e-09	1	1	0	A	40685224	C	A	40685224	5	1	81	1	0	0	0	0	0	0	1	0	1527	811	28	4	7328	4	BRWD1	21	40685224	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	14822	40685224	7444671	14494	18110											
HMGN1	3150	broad.mit.edu	37	21	40714987	40714987	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:40714987A>G	ENST00000361263.4	-	3	926	c.245T>C	c.(244-246)aTc>aCc	p.I82T	HMGN1_ENST00000380747.1_3'UTR|HMGN1_ENST00000489072.1_5'UTR|HMGN1_ENST00000380748.1_3'UTR|HMGN1_ENST00000380749.5_3'UTR			P05114	HMGN1_HUMAN	high mobility group nucleosome binding domain 1	0					positive regulation of transcription elongation, DNA-dependent	chromatin|cytoplasm|nucleus	DNA binding			breast(2)|lung(1)	3		Prostate(19;8.69e-07)				ATTCCTCTGGATTGTACAAGA	0.378													30	25					0	0	1	0	0	G	40714987	A	G	40714987	3	3	81	1	0	0	0	0	1	0	0	0	7275	348	12	3		3	HMGN1	21	40714987	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	29763	40714987	7414908	14495	18111											
WRB	7485	broad.mit.edu	37	21	40765207	40765207	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:40765207G>A	ENST00000333781.5	+	4	592		c.e4+1		WRB_ENST00000541890.1_Splice_Site|WRB_ENST00000466787.1_Splice_Site|WRB_ENST00000398753.1_Splice_Site|WRB_ENST00000380708.1_Splice_Site	NM_004627.4	NP_004618.2	O00258	WRB_HUMAN	tryptophan rich basic protein							integral to membrane|nucleolus				endometrium(3)	3		Prostate(19;1.2e-06)				AGAGTAGCAGGTAAGAATTTT	0.463													12	17					0	0	1	0	0	A	40765207	G	A	40765207	5	1	81	1	0	0	0	0	0	0	1	0	17461	1275	44	2	466	2	WRB	21	40765207	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	50220	40765207	7364688	14496	18112											
LCA5L	150082	broad.mit.edu	37	21	40795308	40795308	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:40795308A>G	ENST00000358268.2	-	5	959	c.431T>C	c.(430-432)cTc>cCc	p.L144P	LCA5L_ENST00000380671.2_Missense_Mutation_p.L144P|LCA5L_ENST00000288350.3_Missense_Mutation_p.L144P|LCA5L_ENST00000485895.2_Missense_Mutation_p.L144P			O95447	LCA5L_HUMAN	Leber congenital amaurosis 5-like	144										breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	24		Prostate(19;1.2e-06)				CCTTGCTGAGAGTATTCGATG	0.338													31	56					0	0	1	0	0	G	40795308	A	G	40795308	3	3	81	1	0	0	0	0	1	0	0	0	8696	304	11	3	1605	3	LCA5L	21	40795308	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	30101	40795308	7334587	14497	18113											
LCA5L	150082	broad.mit.edu	37	21	40800154	40800154	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:40800154A>G	ENST00000358268.2	-	4	794	c.266T>C	c.(265-267)gTg>gCg	p.V89A	LCA5L_ENST00000380671.2_Missense_Mutation_p.V89A|LCA5L_ENST00000288350.3_Missense_Mutation_p.V89A|LCA5L_ENST00000485895.2_Missense_Mutation_p.V89A			O95447	LCA5L_HUMAN	Leber congenital amaurosis 5-like	89										breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	24		Prostate(19;1.2e-06)				TTCTTTTACCACAGGCTGCTT	0.323													41	71					0	0	1	0	0	G	40800154	A	G	40800154	3	3	81	1	0	0	0	0	1	0	0	0	8696	159	6	3	1774	3	LCA5L	21	40800154	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	4846	40800154	7329741	14498	18114											
SH3BGR	6450	broad.mit.edu	37	21	40847093	40847093	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:40847093G>T	ENST00000333634.4	+	3	531	c.453G>T	c.(451-453)gaG>gaT	p.E151D	SH3BGR_ENST00000458295.1_Missense_Mutation_p.E40D|SH3BGR_ENST00000380637.3_Missense_Mutation_p.E40D|SH3BGR_ENST00000380631.1_Missense_Mutation_p.E40D|SH3BGR_ENST00000380634.1_Missense_Mutation_p.E40D	NM_007341.2	NP_031367	P55822	SH3BG_HUMAN	SH3 domain binding glutamic acid-rich protein	151					protein complex assembly	cytosol	SH3 domain binding|SH3/SH2 adaptor activity			NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(2)	8		all_cancers(19;1.16e-23)|all_epithelial(19;1.22e-20)|Prostate(19;2.55e-06)|Breast(209;0.0133)		STAD - Stomach adenocarcinoma(101;0.00151)		CAAAAGAAGAGAATATTATTT	0.363													4	44					0.000602214	0.000646338	1	1	0	T	40847093	G	T	40847093	3	4	81	1	0	0	0	0	1	0	0	0	14294	933	33	4	463	4	SH3BGR	21	40847093	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	46939	40847093	7282802	14499	18115											
B3GALT5	10317	broad.mit.edu	37	21	41032932	41032932	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:41032932C>T	ENST00000380620.4	+	5	1038	c.446C>T	c.(445-447)gCg>gTg	p.A149V	AF064860.5_ENST00000416555.1_RNA|B3GALT5_ENST00000380618.1_Missense_Mutation_p.A149V|B3GALT5_ENST00000343118.4_Missense_Mutation_p.A149V|B3GALT5_ENST00000398714.2_Missense_Mutation_p.A149V			Q9Y2C3	B3GT5_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 5						protein glycosylation	endoplasmic reticulum|Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	16		Prostate(19;2.55e-06)				TGTCCTCAGGCGGCGTTTGTG	0.448													32	43					0	0	1	0	0	T	41032932	C	T	41032932	3	4	81	1	0	0	0	0	1	0	0	0	1248	768	27	1	448	1	B3GALT5	21	41032932	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	185839	41032932	7096963	14500	18116											
B3GALT5	10317	broad.mit.edu	37	21	41033236	41033236	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:41033236C>T	ENST00000380620.4	+	5	1342	c.750C>T	c.(748-750)ctC>ctT	p.L250L	AF064860.5_ENST00000416555.1_RNA|B3GALT5_ENST00000380618.1_Silent_p.L250L|B3GALT5_ENST00000343118.4_Silent_p.L250L|B3GALT5_ENST00000398714.2_Silent_p.L250L			Q9Y2C3	B3GT5_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 5						protein glycosylation	endoplasmic reticulum|Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	16		Prostate(19;2.55e-06)				GGCTCTGCCTCGAAAGGCTGA	0.552													43	54					0	0	1	0	0	T	41033236	C	T	41033236	2	4	81	1	0	0	0	0	0	0	0	1	1248	871	31	1		1	B3GALT5	21	41033236	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	304	41033236	7096659	14501	18117											
DSCAM	1826	broad.mit.edu	37	21	41385262	41385262	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:41385262C>T	ENST00000400454.1	-	33	6215	c.5738G>A	c.(5737-5739)cGa>cAa	p.R1913Q		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1913				HRPGDLIHLPPYLRMDFLLNRGGPGTSRDLSLGQACLEPQK SRTLKRPTVLEPIPMEAASSASSTREGQSWQPGAVATLPQR EGAELGQAAKMSSSQESLLDSRGHLKGNNPYAKSYTLV -> IGQVTSYICLHTLEWTFC (in Ref. 1; AAC17966).	cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TGGACCACCTCGGTTTAACAA	0.507													19	33					0	0	1	0	0	T	41385262	C	T	41385262	3	4	81	1	0	0	0	0	1	0	0	0	4794	884	31	1	304	1	DSCAM	21	41385262	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	352026	41385262	6744633	14502	18118											
DSCAM	1826	broad.mit.edu	37	21	41452189	41452189	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:41452189C>T	ENST00000400454.1	-	25	4787	c.4310G>A	c.(4309-4311)cGc>cAc	p.R1437H		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1437	Fibronectin type-III 5.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				ATTTTCCAAGCGATAGGAACG	0.478													32	64					0	0	1	0	0	T	41452189	C	T	41452189	3	4	81	1	0	0	0	0	1	0	0	0	4794	768	27	1	1764	1	DSCAM	21	41452189	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	66927	41452189	6677706	14503	18119											
DSCAM	1826	broad.mit.edu	37	21	41465683	41465683	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:41465683C>A	ENST00000400454.1	-	21	4292	c.3815G>T	c.(3814-3816)aGc>aTc	p.S1272I		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1272	Fibronectin type-III 4.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				GATTTCACTGCTGTTGCCTCT	0.473													7	9					0.0293803	0.0300537	1	1	0	A	41465683	C	A	41465683	3	1	81	1	0	0	0	0	1	0	0	0	4794	797	28	4	2275	4	DSCAM	21	41465683	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	13494	41465683	6664212	14504	18120											
DSCAM	1826	broad.mit.edu	37	21	41516605	41516605	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:41516605G>A	ENST00000400454.1	-	17	3549	c.3072C>T	c.(3070-3072)taC>taT	p.Y1024Y		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1024	Fibronectin type-III 2.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TGTACTCTCGGTAACCTATTT	0.453													5	57					0	0	1	0	0	A	41516605	G	A	41516605	2	1	81	1	0	0	0	0	0	0	0	1	4794	1256	44	2		2	DSCAM	21	41516605	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	50922	41516605	6613290	14505	18121											
DSCAM	1826	broad.mit.edu	37	21	41710040	41710040	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:41710040C>T	ENST00000400454.1	-	8	2248	c.1771G>A	c.(1771-1773)Gtg>Atg	p.V591M		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	591	Ig-like C2-type 6.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TTCACGGTCACGTGGACGCTC	0.502													43	94					0	0	1	0	0	T	41710040	C	T	41710040	3	4	81	1	0	0	0	0	1	0	0	0	4794	536	19	1	4371	1	DSCAM	21	41710040	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	193435	41710040	6419855	14506	18122											
DSCAM	1826	broad.mit.edu	37	21	41719792	41719792	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:41719792C>A	ENST00000400454.1	-	6	1492	c.1015G>T	c.(1015-1017)Gga>Tga	p.G339*		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	339	Ig-like C2-type 4.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TCCTCAGTTCCTGTCACGCTG	0.488													7	140					8.12818e-05	8.94031e-05	1	1	0	A	41719792	C	A	41719792	4	1	81	1	0	0	0	0	0	1	0	0	4794	690	24	4	5135	4	DSCAM	21	41719792	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	9752	41719792	6410103	14507	18123											
BACE2	25825	broad.mit.edu	37	21	42609525	42609525	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:42609525G>A	ENST00000347667.5	+	3	950	c.487G>A	c.(487-489)Gtc>Atc	p.V163I	BACE2_ENST00000330333.6_Missense_Mutation_p.V163I|BACE2_ENST00000466122.1_3'UTR|BACE2_ENST00000328735.6_Missense_Mutation_p.V163I	NM_138991.1	NP_620476.1	Q9Y5Z0	BACE2_HUMAN	beta-site APP-cleaving enzyme 2						membrane protein ectodomain proteolysis|negative regulation of amyloid precursor protein biosynthetic process|peptide hormone processing	cell surface|endoplasmic reticulum|endosome|Golgi apparatus|integral to membrane	aspartic-type endopeptidase activity			endometrium(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14		Prostate(19;1.57e-07)|all_epithelial(19;0.0251)				GGAAGACCTCGTCACCATCCC	0.448													14	33					0	0	1	0	0	A	42609525	G	A	42609525	3	1	81	1	0	0	0	0	1	0	0	0	1280	1145	40	1	497	1	BACE2	21	42609525	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	889733	42609525	5520370	14508	18124											
BACE2	25825	broad.mit.edu	37	21	42622809	42622809	+	Missense_Mutation	SNP	G	G	A	rs149731757		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:42622809G>A	ENST00000330333.6	+	7	1578	c.1115G>A	c.(1114-1116)cGt>cAt	p.R372H	BACE2_ENST00000347667.5_Intron|BACE2_ENST00000466122.1_3'UTR|BACE2_ENST00000328735.6_Missense_Mutation_p.R372H	NM_012105.3	NP_036237.2	Q9Y5Z0	BACE2_HUMAN	beta-site APP-cleaving enzyme 2	372					membrane protein ectodomain proteolysis|negative regulation of amyloid precursor protein biosynthetic process|peptide hormone processing	cell surface|endoplasmic reticulum|endosome|Golgi apparatus|integral to membrane	aspartic-type endopeptidase activity			endometrium(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14		Prostate(19;1.57e-07)|all_epithelial(19;0.0251)				AGGTCATTCCGTATCACAATC	0.468													11	21					0	0	1	0	0	A	42622809	G	A	42622809	3	1	81	1	0	0	0	0	1	0	0	0	1280	1145	40	1	1141	1	BACE2	21	42622809	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	13284	42622809	5507086	14509	18125											
FAM3B	54097	broad.mit.edu	37	21	42729091	42729091	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:42729091G>A	ENST00000398652.3	+	9	858	c.792G>A	c.(790-792)caG>caA	p.Q264Q	FAM3B_ENST00000398647.3_Silent_p.Q177Q|FAM3B_ENST00000479810.2_3'UTR|FAM3B_ENST00000357985.2_Silent_p.Q225Q|FAM3B_ENST00000398646.3_Silent_p.Q248Q			P58499	FAM3B_HUMAN	family with sequence similarity 3, member B	225					apoptosis|insulin secretion	extracellular space	cytokine activity			central_nervous_system(2)|endometrium(1)|lung(2)	5		Prostate(19;1.57e-07)|all_epithelial(19;0.0404)				CAGAGATCCAGATAGAAGGCT	0.398													42	85					0	0	1	0	0	A	42729091	G	A	42729091	2	1	81	1	0	0	0	0	0	0	0	1	5593	933	33	2		2	FAM3B	21	42729091	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	106282	42729091	5400804	14510	18126											
MX1	4599	broad.mit.edu	37	21	42821137	42821137	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:42821137G>A	ENST00000398600.2	+	16	2372	c.1347G>A	c.(1345-1347)gtG>gtA	p.V449V	MX1_ENST00000398598.3_Silent_p.V449V|MX1_ENST00000288383.6_Silent_p.V426V|MX1_ENST00000455164.2_Silent_p.V449V	NM_001144925.1	NP_001138397.1	P20591	MX1_HUMAN	myxovirus (influenza virus) resistance 1, interferon-inducible protein p78 (mouse)	449					induction of apoptosis|response to virus|type I interferon-mediated signaling pathway	cytosol	GTP binding|GTPase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	27		Prostate(19;3.18e-07)|all_epithelial(19;0.0277)				CAGGCTTTGTGAATTACAGGA	0.423													8	92					0	0	1	0	0	A	42821137	G	A	42821137	2	1	81	1	0	0	0	0	0	0	0	1	10045	1277	45	2		2	MX1	21	42821137	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	92046	42821137	5308758	14511	18127											
RIPK4	54101	broad.mit.edu	37	21	43161219	43161219	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:43161219C>T	ENST00000352483.2	-	9	2342	c.2278G>A	c.(2278-2280)Gcc>Acc	p.A760T	RIPK4_ENST00000542057.1_Missense_Mutation_p.A649T|RIPK4_ENST00000332512.3_Missense_Mutation_p.A712T|RIPK4_ENST00000544709.1_Missense_Mutation_p.A649T|AP001615.9_ENST00000423276.1_RNA			Q96T11	Q96T11_HUMAN	receptor-interacting serine-threonine kinase 4	712						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						TGCCCGTGGGCGGCAGCCAGG	0.687													41	77					0	0	1	0	0	T	43161219	C	T	43161219	3	4	81	1	0	0	0	0	1	0	0	0	13435	768	27	1	224	1	RIPK4	21	43161219	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	340082	43161219	4968676	14512	18128											
RIPK4	54101	broad.mit.edu	37	21	43161513	43161513	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:43161513G>A	ENST00000352483.2	-	9	2048	c.1984C>T	c.(1984-1986)Cgc>Tgc	p.R662C	RIPK4_ENST00000542057.1_Missense_Mutation_p.R551C|RIPK4_ENST00000332512.3_Missense_Mutation_p.R614C|RIPK4_ENST00000544709.1_Missense_Mutation_p.R551C			Q96T11	Q96T11_HUMAN	receptor-interacting serine-threonine kinase 4	614						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						TAGTGCCCGCGCTGTGCGGCC	0.687													35	58					0	0	1	0	0	A	43161513	G	A	43161513	3	1	81	1	0	0	0	0	1	0	0	0	13435	1087	38	1	518	1	RIPK4	21	43161513	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	294	43161513	4968382	14513	18129											
RIPK4	54101	broad.mit.edu	37	21	43161661	43161661	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:43161661G>A	ENST00000352483.2	-	9	1900	c.1836C>T	c.(1834-1836)agC>agT	p.S612S	RIPK4_ENST00000542057.1_Silent_p.S501S|RIPK4_ENST00000332512.3_Silent_p.S564S|RIPK4_ENST00000544709.1_Silent_p.S501S			Q96T11	Q96T11_HUMAN	receptor-interacting serine-threonine kinase 4	564						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						TGCCCTGCAGGCTCACGTCCA	0.672													25	50					0	0	1	0	0	A	43161661	G	A	43161661	2	1	81	1	0	0	0	0	0	0	0	1	13435	1194	42	2		2	RIPK4	21	43161661	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	148	43161661	4968234	14514	18130											
PRDM15	63977	broad.mit.edu	37	21	43221566	43221566	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:43221566G>T	ENST00000422911.1	-	25	3532	c.3431C>A	c.(3430-3432)tCc>tAc	p.S1144Y	PRDM15_ENST00000269844.3_Missense_Mutation_p.S1453Y|PRDM15_ENST00000470586.1_5'UTR|PRDM15_ENST00000538201.1_Missense_Mutation_p.S1107Y|PRDM15_ENST00000447207.2_Missense_Mutation_p.S1087Y|PRDM15_ENST00000398548.1_Missense_Mutation_p.S1124Y	NM_001282934.1	NP_001269863.1	P57071	PRD15_HUMAN	PR domain containing 15	1453					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						GGGCGTGATGGAGTTGACCAG	0.637													35	44					6.50621e-10	7.91703e-10	1	1	0	T	43221566	G	T	43221566	3	4	81	1	0	0	0	0	1	0	0	0	12508	1174	41	5	169	5	PRDM15	21	43221566	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	59905	43221566	4908329	14515	18131											
PRDM15	63977	broad.mit.edu	37	21	43222908	43222908	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:43222908G>A	ENST00000422911.1	-	24	3179	c.3078C>T	c.(3076-3078)ggC>ggT	p.G1026G	PRDM15_ENST00000269844.3_Silent_p.G1335G|PRDM15_ENST00000470586.1_5'UTR|PRDM15_ENST00000538201.1_Silent_p.G989G|PRDM15_ENST00000447207.2_Silent_p.G969G|PRDM15_ENST00000398548.1_Silent_p.G1006G	NM_001282934.1	NP_001269863.1	P57071	PRD15_HUMAN	PR domain containing 15	1335					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G1335G(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						TGGTCTCGTCGCCTACACTGC	0.542													68	108					0	0	1	0	0	A	43222908	G	A	43222908	2	1	81	1	0	0	0	0	0	0	0	1	12508	1074	38	1		1	PRDM15	21	43222908	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1342	43222908	4906987	14516	18132											
PRDM15	63977	broad.mit.edu	37	21	43242388	43242388	+	Silent	SNP	G	G	A	rs139162933	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:43242388G>A	ENST00000422911.1	-	16	2039	c.1938C>T	c.(1936-1938)atC>atT	p.I646I	PRDM15_ENST00000269844.3_Silent_p.I955I|PRDM15_ENST00000538201.1_Silent_p.I609I|PRDM15_ENST00000447207.2_Silent_p.I589I|PRDM15_ENST00000398548.1_Silent_p.I626I	NM_001282934.1	NP_001269863.1	P57071	PRD15_HUMAN	PR domain containing 15	955					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						CCATCAACGCGATGTCCTGGA	0.527													23	55					0	0	1	0	0	A	43242388	G	A	43242388	2	1	81	1	0	0	0	0	0	0	0	1	12508	1048	37	1		1	PRDM15	21	43242388	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	19480	43242388	4887507	14517	18133											
C2CD2	25966	broad.mit.edu	37	21	43309427	43309427	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:43309427G>A	ENST00000380486.3	-	14	2138	c.1897C>T	c.(1897-1899)Ctg>Ttg	p.L633L	C2CD2_ENST00000329623.7_Silent_p.L478L	NM_015500.1	NP_056315.1	Q9Y426	CU025_HUMAN	C2 calcium-dependent domain containing 2	633						cytosol|extracellular region|nucleus				endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|stomach(1)	15						CGGAAGAACAGCTTTGCACCT	0.557													14	23					0	0	1	0	0	A	43309427	G	A	43309427	2	1	81	1	0	0	0	0	0	0	0	1	2166	962	34	2		2	C2CD2	21	43309427	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	67039	43309427	4820468	14518	18134											
C2CD2	25966	broad.mit.edu	37	21	43338295	43338295	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:43338295C>A	ENST00000380486.3	-	5	880	c.639G>T	c.(637-639)aaG>aaT	p.K213N	C2CD2_ENST00000329623.7_Missense_Mutation_p.K58N	NM_015500.1	NP_056315.1	Q9Y426	CU025_HUMAN	C2 calcium-dependent domain containing 2	213						cytosol|extracellular region|nucleus				endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|stomach(1)	15						TCAAGATGTCCTTGAGAACGT	0.507													19	29					3.51602e-12	4.38715e-12	1	1	0	A	43338295	C	A	43338295	3	1	81	1	0	0	0	0	1	0	0	0	2166	680	24	4	1491	4	C2CD2	21	43338295	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	28868	43338295	4791600	14519	18135											
UMODL1	89766	broad.mit.edu	37	21	43524044	43524044	+	Missense_Mutation	SNP	G	G	A	rs142481877		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:43524044G>A	ENST00000400424.2	+	9	1546	c.1150G>A	c.(1150-1152)Gtg>Atg	p.V384M	UMODL1_ENST00000400427.1_Missense_Mutation_p.V384M|C21orf128_ENST00000329015.2_Silent_p.H63H|UMODL1_ENST00000408989.2_Missense_Mutation_p.V456M|UMODL1_ENST00000408910.2_Missense_Mutation_p.V456M	NM_001199528.2	NP_001186457	Q5DID0	UROL1_HUMAN	uromodulin-like 1		Fibronectin type-III 1.					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						AATGCAGATCGTGTCTCTCCA	0.592													40	82					0	0	1	0	0	A	43524044	G	A	43524044	3	1	81	1	0	0	0	0	1	0	0	0	17040	1145	40	1	1400	1	UMODL1	21	43524044	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	185749	43524044	4605851	14520	18136											
UMODL1	89766	broad.mit.edu	37	21	43524161	43524161	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:43524161G>T	ENST00000400424.2	+	9	1663	c.1267G>T	c.(1267-1269)Gtg>Ttg	p.V423L	UMODL1_ENST00000400427.1_Missense_Mutation_p.V423L|C21orf128_ENST00000329015.2_Intron|UMODL1_ENST00000408989.2_Missense_Mutation_p.V495L|UMODL1_ENST00000408910.2_Missense_Mutation_p.V495L	NM_001199528.2	NP_001186457	Q5DID0	UROL1_HUMAN	uromodulin-like 1		SEA 1.					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						GGCAAGCACAGTGTTCCAGAT	0.622													7	71					0.00621372	0.00649472	1	1	0	T	43524161	G	T	43524161	3	4	81	1	0	0	0	0	1	0	0	0	17040	1029	36	4	1517	4	UMODL1	21	43524161	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	117	43524161	4605734	14521	18137											
ABCG1	9619	broad.mit.edu	37	21	43711733	43711733	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:43711733C>T	ENST00000398437.1	+	14	2242	c.2094C>T	c.(2092-2094)ggC>ggT	p.G698G	ABCG1_ENST00000347800.2_Silent_p.G537G|ABCG1_ENST00000340588.4_Silent_p.G660G|ABCG1_ENST00000462050.1_3'UTR|ABCG1_ENST00000343687.3_Silent_p.G551G|ABCG1_ENST00000361802.2_Silent_p.G552G|ABCG1_ENST00000398457.2_Silent_p.G542G|ABCG1_ENST00000398449.3_Silent_p.G540G			P45844	ABCG1_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 1	552					amyloid precursor protein catabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|detection of hormone stimulus|high-density lipoprotein particle remodeling|intracellular cholesterol transport|lipoprotein metabolic process|low-density lipoprotein particle remodeling|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|positive regulation of cholesterol biosynthetic process|regulation of cholesterol esterification|regulation of transcription, DNA-dependent|response to lipid|reverse cholesterol transport	endoplasmic reticulum membrane|external side of plasma membrane|Golgi membrane|recycling endosome	ADP binding|ATP binding|cholesterol transporter activity|glycoprotein transporter activity|phospholipid transporter activity|protein heterodimerization activity|protein homodimerization activity|sterol-transporting ATPase activity|toxin transporter activity			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(3)|prostate(2)|stomach(1)	29					Adenosine triphosphate(DB00171)	AGTCCCTGGGCCTGCTGATCG	0.667													10	20					0	0	1	0	0	T	43711733	C	T	43711733	2	4	81	1	0	0	0	0	0	0	0	1	68	726	26	2		2	ABCG1	21	43711733	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	187572	43711733	4418162	14522	18138											
TMPRSS3	64699	broad.mit.edu	37	21	43795969	43795969	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:43795969G>A	ENST00000291532.3	-	12	2158	c.1203C>T	c.(1201-1203)agC>agT	p.S401S	TMPRSS3_ENST00000398405.1_Silent_p.S398S|TMPRSS3_ENST00000474596.1_5'UTR|TMPRSS3_ENST00000433957.2_Silent_p.S400S|TMPRSS3_ENST00000380399.1_Silent_p.S485S	NM_032404.2	NP_115780.1	P57727	TMPS3_HUMAN	transmembrane protease, serine 3	401	Peptidase S1.				cellular sodium ion homeostasis|proteolysis	endoplasmic reticulum membrane|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity|sodium channel regulator activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(4)|skin(1)	13						GGGGCCCCCCGCTGTCCCCCT	0.597													59	108					0	0	1	0	0	A	43795969	G	A	43795969	2	1	81	1	0	0	0	0	0	0	0	1	16308	1078	38	1		1	TMPRSS3	21	43795969	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	84236	43795969	4333926	14523	18139											
TMPRSS3	64699	broad.mit.edu	37	21	43808547	43808547	+	Silent	SNP	G	G	A	rs142784113		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:43808547G>A	ENST00000291532.3	-	5	1366	c.411C>T	c.(409-411)taC>taT	p.Y137Y	TMPRSS3_ENST00000398405.1_Silent_p.Y135Y|TMPRSS3_ENST00000398397.3_Silent_p.Y137Y|TMPRSS3_ENST00000474596.1_5'UTR|TMPRSS3_ENST00000433957.2_Silent_p.Y137Y|TMPRSS3_ENST00000380399.1_Silent_p.Y221Y	NM_032404.2	NP_115780.1	P57727	TMPS3_HUMAN	transmembrane protease, serine 3	137	SRCR.				cellular sodium ion homeostasis|proteolysis	endoplasmic reticulum membrane|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity|sodium channel regulator activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(4)|skin(1)	13						CAACATTTGCGTAGTGACCCT	0.512													47	81					0	0	1	0	0	A	43808547	G	A	43808547	2	1	81	1	0	0	0	0	0	0	0	1	16308	1140	40	1		1	TMPRSS3	21	43808547	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	12578	43808547	4321348	14524	18140											
TMPRSS3	64699	broad.mit.edu	37	21	43809106	43809106	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:43809106C>T	ENST00000291532.3	-	4	1209	c.254G>A	c.(253-255)tGt>tAt	p.C85Y	TMPRSS3_ENST00000398405.1_Missense_Mutation_p.C83Y|TMPRSS3_ENST00000398397.3_Missense_Mutation_p.C85Y|TMPRSS3_ENST00000474596.1_5'UTR|TMPRSS3_ENST00000433957.2_Missense_Mutation_p.C85Y|TMPRSS3_ENST00000380399.1_Missense_Mutation_p.C169Y	NM_032404.2	NP_115780.1	P57727	TMPS3_HUMAN	transmembrane protease, serine 3	85	LDL-receptor class A.				cellular sodium ion homeostasis|proteolysis	endoplasmic reticulum membrane|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity|sodium channel regulator activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(4)|skin(1)	13						CAGCTCGATACACTTAAAGGA	0.522													9	24					0	0	1	0	0	T	43809106	C	T	43809106	3	4	81	1	0	0	0	0	1	0	0	0	16308	478	17	2	1233	2	TMPRSS3	21	43809106	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	559	43809106	4320789	14525	18141											
UBASH3A	53347	broad.mit.edu	37	21	43829594	43829594	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:43829594C>A	ENST00000319294.6	+	3	262	c.231C>A	c.(229-231)ttC>ttA	p.F77L	UBASH3A_ENST00000398367.1_Missense_Mutation_p.F77L|UBASH3A_ENST00000450356.1_Missense_Mutation_p.F77L|UBASH3A_ENST00000291535.6_Missense_Mutation_p.F77L	NM_018961.3	NP_061834.1	P57075	UBS3A_HUMAN	ubiquitin associated and SH3 domain containing A	77						cytosol|nucleus				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(9)|lung(12)|ovary(3)	28						ATGCCCTTTTCCTCTGTCCAA	0.557													6	79					0.217242	0.218703	1	1	0	A	43829594	C	A	43829594	3	1	81	1	0	0	0	0	1	0	0	0	16900	854	30	5	241	5	UBASH3A	21	43829594	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	20488	43829594	4300301	14526	18142											
UBASH3A	53347	broad.mit.edu	37	21	43829702	43829702	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:43829702C>T	ENST00000319294.6	+	3	370	c.339C>T	c.(337-339)ctC>ctT	p.L113L	UBASH3A_ENST00000398367.1_Silent_p.L113L|UBASH3A_ENST00000450356.1_Silent_p.L113L|UBASH3A_ENST00000291535.6_Silent_p.L113L	NM_018961.3	NP_061834.1	P57075	UBS3A_HUMAN	ubiquitin associated and SH3 domain containing A	113						cytosol|nucleus				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(9)|lung(12)|ovary(3)	28						ACGTGACACTCTGTGACTTCT	0.522													4	61					0	0	1	0	0	T	43829702	C	T	43829702	2	4	81	1	0	0	0	0	0	0	0	1	16900	900	32	2		2	UBASH3A	21	43829702	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	108	43829702	4300193	14527	18143											
UBASH3A	53347	broad.mit.edu	37	21	43857619	43857619	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:43857619G>T	ENST00000319294.6	+	11	1446	c.1415G>T	c.(1414-1416)gGt>gTt	p.G472V	UBASH3A_ENST00000398367.1_Missense_Mutation_p.G434V|UBASH3A_ENST00000291535.6_Missense_Mutation_p.G434V	NM_018961.3	NP_061834.1	P57075	UBS3A_HUMAN	ubiquitin associated and SH3 domain containing A	472	Phosphatase-like.					cytosol|nucleus				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(9)|lung(12)|ovary(3)	28						CTGGACAGTGGTATCAGAATC	0.537													14	31					1.3612e-06	1.56842e-06	1	1	0	T	43857619	G	T	43857619	3	4	81	1	0	0	0	0	1	0	0	0	16900	1261	44	5	1457	5	UBASH3A	21	43857619	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	27917	43857619	4272276	14528	18144											
RSPH1	89765	broad.mit.edu	37	21	43897497	43897497	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:43897497C>A	ENST00000291536.3	-	7	798	c.631G>T	c.(631-633)Gct>Tct	p.A211S	RSPH1_ENST00000398352.3_Missense_Mutation_p.A173S	NM_080860.2	NP_543136.1	Q8WYR4	RSPH1_HUMAN	radial spoke head 1 homolog (Chlamydomonas)	211					meiosis	cytosol|nucleus				large_intestine(7)|lung(2)|ovary(1)|prostate(1)|stomach(1)	12						ATTTGGGTAGCTTTCCATTTT	0.453													33	63					2.81731e-10	3.44302e-10	1	1	0	A	43897497	C	A	43897497	3	1	81	1	0	0	0	0	1	0	0	0	13754	797	28	4	310	4	RSPH1	21	43897497	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	39878	43897497	4232398	14529	18145											
RSPH1	89765	broad.mit.edu	37	21	43913094	43913094	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:43913094G>A	ENST00000291536.3	-	2	317	c.150C>T	c.(148-150)ttC>ttT	p.F50F	RSPH1_ENST00000398352.3_Intron	NM_080860.2	NP_543136.1	Q8WYR4	RSPH1_HUMAN	radial spoke head 1 homolog (Chlamydomonas)	50					meiosis	cytosol|nucleus				large_intestine(7)|lung(2)|ovary(1)|prostate(1)|stomach(1)	12						GTCTTTTACCGAATTCGTAGC	0.507													95	140					0	0	1	0	0	A	43913094	G	A	43913094	2	1	81	1	0	0	0	0	0	0	0	1	13754	1049	37	1		1	RSPH1	21	43913094	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	15597	43913094	4216801	14530	18146											
SLC37A1	54020	broad.mit.edu	37	21	43963669	43963669	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:43963669C>T	ENST00000352133.2	+	8	1669	c.687C>T	c.(685-687)atC>atT	p.I229I	SLC37A1_ENST00000398341.3_Silent_p.I229I			P57057	GLPT_HUMAN	solute carrier family 37 (glucose-6-phosphate transporter), member 1	229					carbohydrate transport|transmembrane transport	integral to membrane				breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|liver(2)|lung(3)	15						CTGGAGCCATCGTGGCAGCCA	0.597													10	115					0	0	1	0	0	T	43963669	C	T	43963669	2	4	81	1	0	0	0	0	0	0	0	1	14652	874	31	1		1	SLC37A1	21	43963669	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	50575	43963669	4166226	14531	18147											
SLC37A1	54020	broad.mit.edu	37	21	43987140	43987140	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:43987140T>G	ENST00000352133.2	+	16	2298	c.1316T>G	c.(1315-1317)cTc>cGc	p.L439R	SLC37A1_ENST00000398341.3_Missense_Mutation_p.L439R			P57057	GLPT_HUMAN	solute carrier family 37 (glucose-6-phosphate transporter), member 1	439					carbohydrate transport|transmembrane transport	integral to membrane				breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|liver(2)|lung(3)	15						CCCTACACACTCATCACCACC	0.622													13	18					0	0	1	0	0	G	43987140	T	G	43987140	3	3	81	1	0	0	0	0	1	0	0	0	14652	1551	54	5	1374	5	SLC37A1	21	43987140	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	23471	43987140	4142755	14532	18148											
PDE9A	5152	broad.mit.edu	37	21	44189185	44189185	+	Nonsense_Mutation	SNP	C	C	T	rs140304122		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:44189185C>T	ENST00000291539.6	+	17	1570	c.1510C>T	c.(1510-1512)Cga>Tga	p.R504*	PDE9A_ENST00000398236.3_Nonsense_Mutation_p.R418*|PDE9A_ENST00000470987.1_3'UTR|PDE9A_ENST00000398225.3_Nonsense_Mutation_p.R463*|PDE9A_ENST00000349112.3_Nonsense_Mutation_p.R376*|PDE9A_ENST00000335512.4_Nonsense_Mutation_p.R444*|PDE9A_ENST00000328862.6_Nonsense_Mutation_p.R478*|PDE9A_ENST00000398232.3_Nonsense_Mutation_p.R437*|PDE9A_ENST00000398224.3_Nonsense_Mutation_p.R377*|PDE9A_ENST00000380328.2_Nonsense_Mutation_p.R451*|PDE9A_ENST00000398227.3_Nonsense_Mutation_p.R344*|PDE9A_ENST00000335440.6_Nonsense_Mutation_p.R402*|PDE9A_ENST00000398229.3_Nonsense_Mutation_p.R370*|PDE9A_ENST00000539837.1_Nonsense_Mutation_p.R376*|PDE9A_ENST00000398234.3_Nonsense_Mutation_p.R403*	NM_002606.2	NP_002597.1	O76083	PDE9A_HUMAN	phosphodiesterase 9A	504	Catalytic (By similarity).				platelet activation|signal transduction	cytosol|endoplasmic reticulum|Golgi apparatus|perinuclear region of cytoplasm|ruffle membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding|protein binding			breast(1)|endometrium(4)|large_intestine(6)|lung(8)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27						GTTCATGGACCGAGACAAAGT	0.507													5	58					0	0	1	0	0	T	44189185	C	T	44189185	4	4	81	1	0	0	0	0	0	1	0	0	11702	644	23	1	1656	1	PDE9A	21	44189185	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	202045	44189185	3940710	14533	18149											
WDR4	10785	broad.mit.edu	37	21	44283614	44283614	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:44283614G>A	ENST00000398208.2	-	4	448	c.389C>T	c.(388-390)tCg>tTg	p.S130L	WDR4_ENST00000492742.1_5'UTR|WDR4_ENST00000330317.2_Missense_Mutation_p.S130L	NM_001260474.1|NM_001260475.1|NM_001260476.1|NM_018669.5	NP_001247403.1|NP_001247404.1|NP_001247405.1|NP_061139.2	P57081	WDR4_HUMAN	WD repeat domain 4	130					tRNA modification	cytoplasm|nucleoplasm	protein binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|ovary(2)	11				Colorectal(79;0.0165)|Lung(125;0.0484)|STAD - Stomach adenocarcinoma(101;0.0624)|COAD - Colon adenocarcinoma(84;0.128)|LUSC - Lung squamous cell carcinoma(216;0.244)		CTCCAGCACCGAAAAGGAGTA	0.592													14	24					0	0	1	0	0	A	44283614	G	A	44283614	3	1	81	1	0	0	0	0	1	0	0	0	17353	1059	37	1	881	1	WDR4	21	44283614	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	94429	44283614	3846281	14534	18150											
NDUFV3	4731	broad.mit.edu	37	21	44323306	44323306	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:44323306A>G	ENST00000354250.2	+	3	253	c.184A>G	c.(184-186)Aag>Gag	p.K62E	NDUFV3_ENST00000460259.1_3'UTR|NDUFV3_ENST00000340344.4_Intron	NM_021075.3	NP_066553.3	P56181	NDUV3_HUMAN	NADH dehydrogenase (ubiquinone) flavoprotein 3, 10kDa	0					mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I|nucleus	NADH dehydrogenase (ubiquinone) activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	10				STAD - Stomach adenocarcinoma(101;0.0606)	NADH(DB00157)	AGTGGAACCAAAGGAGAGGGG	0.418													6	41					0	0	1	0	0	G	44323306	A	G	44323306	3	3	81	1	0	0	0	0	1	0	0	0	10348	15	1	3	194	3	NDUFV3	21	44323306	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	39692	44323306	3806589	14535	18151											
PKNOX1	5316	broad.mit.edu	37	21	44438312	44438312	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:44438312C>T	ENST00000291547.5	+	7	903	c.692C>T	c.(691-693)cCt>cTt	p.P231L	PKNOX1_ENST00000432907.2_Missense_Mutation_p.P114L	NM_004571.3	NP_004562.2	P55347	PKNX1_HUMAN	PBX/knotted 1 homeobox 1	231							sequence-specific DNA binding			cervix(3)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|prostate(1)	22						ACATTGTCGCCTGGGACAATT	0.542													3	41					0	0	1	0	0	T	44438312	C	T	44438312	3	4	81	1	0	0	0	0	1	0	0	0	12030	681	24	2	714	2	PKNOX1	21	44438312	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	115006	44438312	3691583	14536	18152											
PKNOX1	5316	broad.mit.edu	37	21	44445056	44445056	+	Splice_Site	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:44445056T>G	ENST00000291547.5	+	9	1136	c.925T>G	c.(925-927)Tgg>Ggg	p.W309G	PKNOX1_ENST00000607150.1_3'UTR|PKNOX1_ENST00000432907.2_Splice_Site_p.W192G	NM_004571.3	NP_004562.2	P55347	PKNX1_HUMAN	PBX/knotted 1 homeobox 1	309							sequence-specific DNA binding			cervix(3)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|prostate(1)	22						AGTCAACAACTGGTAAGGTGC	0.438													27	34					0	0	1	0	0	G	44445056	T	G	44445056	5	3	81	1	0	0	0	0	0	0	1	0	12030	1594	55	5	955	5	PKNOX1	21	44445056	Splice_Site	SNP	T	TCGA-DU-6392-01A-11D-1705-08	6744	44445056	3684839	14537	18153											
CBS	875	broad.mit.edu	37	21	44484021	44484021	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:44484021G>A	ENST00000398165.3	-	9	1076	c.817C>T	c.(817-819)Cct>Tct	p.P273S	CBS_ENST00000398158.1_Missense_Mutation_p.P273S|CBS_ENST00000352178.5_Missense_Mutation_p.P273S|CBS_ENST00000544202.1_Missense_Mutation_p.P185S|CBS_ENST00000398168.1_Missense_Mutation_p.P273S|CBS_ENST00000359624.3_Missense_Mutation_p.P273S	NM_000071.2	NP_000062.1	P35520	CBS_HUMAN	cystathionine-beta-synthase	273					cysteine biosynthetic process from serine|cysteine biosynthetic process via cystathionine|homocysteine catabolic process|hydrogen sulfide biosynthetic process|L-cysteine catabolic process|L-serine catabolic process	cytosol|nucleolus	cystathionine beta-synthase activity|heme binding|protein homodimerization activity|pyridoxal phosphate binding|ubiquitin protein ligase binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(8)	17					L-Cysteine(DB00151)|L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|S-Adenosylmethionine(DB00118)	CTGCATCCAGGACACTTCTCC	0.627													7	5					0	0	1	0	0	A	44484021	G	A	44484021	3	1	81	1	0	0	0	0	1	0	0	0	2729	1174	41	2	874	2	CBS	21	44484021	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	38965	44484021	3645874	14538	18154											
CBS	875	broad.mit.edu	37	21	44486415	44486415	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:44486415G>A	ENST00000398165.3	-	5	648	c.389C>T	c.(388-390)gCt>gTt	p.A130V	CBS_ENST00000398158.1_Missense_Mutation_p.A130V|CBS_ENST00000352178.5_Missense_Mutation_p.A130V|CBS_ENST00000470912.1_5'UTR|CBS_ENST00000544202.1_Missense_Mutation_p.A42V|CBS_ENST00000398168.1_Missense_Mutation_p.A130V|CBS_ENST00000359624.3_Missense_Mutation_p.A130V	NM_000071.2	NP_000062.1	P35520	CBS_HUMAN	cystathionine-beta-synthase	130					cysteine biosynthetic process from serine|cysteine biosynthetic process via cystathionine|homocysteine catabolic process|hydrogen sulfide biosynthetic process|L-cysteine catabolic process|L-serine catabolic process	cytosol|nucleolus	cystathionine beta-synthase activity|heme binding|protein homodimerization activity|pyridoxal phosphate binding|ubiquitin protein ligase binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(8)	17					L-Cysteine(DB00151)|L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|S-Adenosylmethionine(DB00118)	GTCGCGCTCAGCATCCTCAAT	0.647													16	42					0	0	1	0	0	A	44486415	G	A	44486415	3	1	81	1	0	0	0	0	1	0	0	0	2729	971	34	2	1318	2	CBS	21	44486415	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2394	44486415	3643480	14539	18155											
CBS	875	broad.mit.edu	37	21	44488723	44488723	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:44488723G>A	ENST00000398165.3	-	4	471	c.212C>T	c.(211-213)gCa>gTa	p.A71V	CBS_ENST00000398158.1_Missense_Mutation_p.A71V|CBS_ENST00000352178.5_Missense_Mutation_p.A71V|CBS_ENST00000470912.1_5'UTR|CBS_ENST00000544202.1_5'UTR|CBS_ENST00000398168.1_Missense_Mutation_p.A71V|CBS_ENST00000359624.3_Missense_Mutation_p.A71V	NM_000071.2	NP_000062.1	P35520	CBS_HUMAN	cystathionine-beta-synthase	71					cysteine biosynthetic process from serine|cysteine biosynthetic process via cystathionine|homocysteine catabolic process|hydrogen sulfide biosynthetic process|L-cysteine catabolic process|L-serine catabolic process	cytosol|nucleolus	cystathionine beta-synthase activity|heme binding|protein homodimerization activity|pyridoxal phosphate binding|ubiquitin protein ligase binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(8)	17					L-Cysteine(DB00151)|L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|S-Adenosylmethionine(DB00118)	TGGAGATTTTGCCCTGAAACA	0.418													13	32					0	0	1	0	0	A	44488723	G	A	44488723	3	1	81	1	0	0	0	0	1	0	0	0	2729	1319	46	2	1499	2	CBS	21	44488723	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2308	44488723	3641172	14540	18156											
U2AF1	7307	broad.mit.edu	37	21	44513286	44513286	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:44513286C>T	ENST00000459639.1	-	7	1454	c.430G>A	c.(430-432)Ggt>Agt	p.G144S	U2AF1_ENST00000380276.2_Missense_Mutation_p.G217S|U2AF1_ENST00000291552.4_Missense_Mutation_p.G217S|U2AF1_ENST00000398137.1_Missense_Mutation_p.G144S			Q01081	U2AF1_HUMAN	U2 small nuclear RNA auxiliary factor 1	217	RRM.				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	Cajal body|catalytic step 2 spliceosome|nuclear speck	nucleotide binding|RNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(111)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	126						cctccaccaccgccaccgcca	0.577			Mis		"CLL, MDS"								3	24					0	0	1	0	0	T	44513286	C	T	44513286	3	4	81	1	0	0	0	0	1	0	0	0	16882	652	23	1	77	1	U2AF1	21	44513286	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	24563	44513286	3616609	14541	18157											
U2AF1	7307	broad.mit.edu	37	21	44524474	44524474	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:44524474C>T	ENST00000291552.4	-	2	175	c.83G>A	c.(82-84)cGt>cAt	p.R28H	U2AF1_ENST00000486519.1_5'UTR|U2AF1_ENST00000380276.2_Missense_Mutation_p.R28H|U2AF1_ENST00000459639.1_5'UTR|U2AF1_ENST00000398137.1_5'UTR	NM_006758.2	NP_006749.1	Q01081	U2AF1_HUMAN	U2 small nuclear RNA auxiliary factor 1	28					mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	Cajal body|catalytic step 2 spliceosome|nuclear speck	nucleotide binding|RNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(111)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	126						GTCTCCATGACGACATGCTCC	0.363			Mis		"CLL, MDS"								19	23					0	0	1	0	0	T	44524474	C	T	44524474	3	4	81	1	0	0	0	0	1	0	0	0	16882	536	19	1	738	1	U2AF1	21	44524474	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	11188	44524474	3605421	14542	18158											
SIK1	150094	broad.mit.edu	37	21	44839825	44839825	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:44839825G>A	ENST00000270162.6	-	9	1165	c.1033C>T	c.(1033-1035)Ctc>Ttc	p.L345F		NM_173354.3	NP_775490.2	P57059	SIK1_HUMAN	salt-inducible kinase 1	345					anoikis|cell cycle|cell differentiation|intracellular protein kinase cascade|multicellular organismal development|regulation of cell differentiation|regulation of mitotic cell cycle	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|testis(2)|urinary_tract(1)	21						TACTCCTTGAGCCGCTCAAGG	0.612													4	4					0	0	1	0	0	A	44839825	G	A	44839825	3	1	81	1	0	0	0	0	1	0	0	0	14372	971	34	2	1342	2	SIK1	21	44839825	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	315351	44839825	3290070	14543	18159											
PDXK	8566	broad.mit.edu	37	21	45165991	45165991	+	Silent	SNP	C	C	T	rs117861720	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:45165991C>T	ENST00000291565.4	+	5	546	c.363C>T	c.(361-363)gaC>gaT	p.D121D	PDXK_ENST00000468090.1_Silent_p.D93D|PDXK_ENST00000467908.1_Silent_p.D81D	NM_003681.4	NP_003672.1	O00764	PDXK_HUMAN	pyridoxal (pyridoxine, vitamin B6) kinase	121					cell proliferation|pyridoxal 5'-phosphate salvage	cytosol	ATP binding|lithium ion binding|magnesium ion binding|potassium ion binding|protein homodimerization activity|pyridoxal kinase activity|pyridoxal phosphate binding|sodium ion binding|zinc ion binding			endometrium(1)|lung(2)|ovary(1)|urinary_tract(1)	5				Colorectal(79;0.109)|READ - Rectum adenocarcinoma(84;0.161)|STAD - Stomach adenocarcinoma(101;0.18)	Pyridoxal(DB00147)|Pyridoxine(DB00165)	ACAAGTGGGACGGCGAAGGCT	0.498													7	31					0	0	1	0	0	T	45165991	C	T	45165991	2	4	81	1	0	0	0	0	0	0	0	1	11744	535	19	1		1	PDXK	21	45165991	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	326166	45165991	2963904	14544	18160											
PDXK	8566	broad.mit.edu	37	21	45175625	45175625	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:45175625G>T	ENST00000291565.4	+	10	989	c.806G>T	c.(805-807)aGg>aTg	p.R269M	PDXK_ENST00000468090.1_Missense_Mutation_p.R241M|PDXK_ENST00000467908.1_Missense_Mutation_p.R229M	NM_003681.4	NP_003672.1	O00764	PDXK_HUMAN	pyridoxal (pyridoxine, vitamin B6) kinase	269					cell proliferation|pyridoxal 5'-phosphate salvage	cytosol	ATP binding|lithium ion binding|magnesium ion binding|potassium ion binding|protein homodimerization activity|pyridoxal kinase activity|pyridoxal phosphate binding|sodium ion binding|zinc ion binding			endometrium(1)|lung(2)|ovary(1)|urinary_tract(1)	5				Colorectal(79;0.109)|READ - Rectum adenocarcinoma(84;0.161)|STAD - Stomach adenocarcinoma(101;0.18)	Pyridoxal(DB00147)|Pyridoxine(DB00165)	GTTCTGCAGAGGACCATCCAG	0.637													33	44					1.06647e-15	1.36289e-15	1	1	0	T	45175625	G	T	45175625	3	4	81	1	0	0	0	0	1	0	0	0	11744	1000	35	4	844	4	PDXK	21	45175625	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	9634	45175625	2954270	14545	18161											
CSTB	1476	broad.mit.edu	37	21	45194539	45194539	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:45194539C>A	ENST00000291568.5	-	2	343	c.168G>T	c.(166-168)aaG>aaT	p.K56N		NM_000100.3	NP_000091.1	P04080	CYTB_HUMAN	cystatin B (stefin B)	56						cytoplasm|nucleolus	cysteine-type endopeptidase inhibitor activity|protease binding			lung(1)|prostate(1)	2				STAD - Stomach adenocarcinoma(101;0.168)		CACACTCTACCTTGATGAAGT	0.587													26	29					2.48779e-11	3.08063e-11	1	1	0	A	45194539	C	A	45194539	5	1	81	1	0	0	0	0	0	0	1	0	4007	695	24	4	136	4	CSTB	21	45194539	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	18914	45194539	2935356	14546	18162											
TRAPPC10	7109	broad.mit.edu	37	21	45479009	45479009	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:45479009T>C	ENST00000291574.4	+	6	879	c.704T>C	c.(703-705)aTg>aCg	p.M235T	TRAPPC10_ENST00000380221.3_Missense_Mutation_p.M235T	NM_003274.4	NP_003265.3	P48553	TPC10_HUMAN	trafficking protein particle complex 10	235					vesicle-mediated transport	Golgi apparatus|integral to membrane	binding|sodium ion transmembrane transporter activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4)	41						GTTTTCGAGATGCTGCAGCAG	0.473													30	44					0	0	1	0	0	C	45479009	T	C	45479009	3	2	81	1	0	0	0	0	1	0	0	0	16518	1464	51	3	726	3	TRAPPC10	21	45479009	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	284470	45479009	2650886	14547	18163											
TRAPPC10	7109	broad.mit.edu	37	21	45518355	45518355	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:45518355G>A	ENST00000291574.4	+	21	3461	c.3286G>A	c.(3286-3288)Gat>Aat	p.D1096N		NM_003274.4	NP_003265.3	P48553	TPC10_HUMAN	trafficking protein particle complex 10	1096					vesicle-mediated transport	Golgi apparatus|integral to membrane	binding|sodium ion transmembrane transporter activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4)	41						CTTGGAGGTGGATAAAGATGA	0.512													47	73					0	0	1	0	0	A	45518355	G	A	45518355	3	1	81	1	0	0	0	0	1	0	0	0	16518	1174	41	2	3368	2	TRAPPC10	21	45518355	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	39346	45518355	2611540	14548	18164											
PWP2	5822	broad.mit.edu	37	21	45542167	45542167	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:45542167G>T	ENST00000291576.7	+	14	1873	c.1746G>T	c.(1744-1746)gaG>gaT	p.E582D		NM_005049.2	NP_005040.2	Q15269	PWP2_HUMAN	PWP2 periodic tryptophan protein homolog (yeast)	582						cytoplasm|nucleolus	signal transducer activity			cervix(1)|endometrium(6)|large_intestine(6)|lung(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	21				STAD - Stomach adenocarcinoma(101;0.172)|Colorectal(79;0.2)		GCTCCATTGAGGGCAGGCATG	0.587													26	29					1.33986e-20	1.75105e-20	1	1	0	T	45542167	G	T	45542167	3	4	81	1	0	0	0	0	1	0	0	0	12896	991	35	4	1800	4	PWP2	21	45542167	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	23812	45542167	2587728	14549	18165											
PWP2	5822	broad.mit.edu	37	21	45544500	45544500	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:45544500C>T	ENST00000291576.7	+	15	1984	c.1857C>T	c.(1855-1857)agC>agT	p.S619S		NM_005049.2	NP_005040.2	Q15269	PWP2_HUMAN	PWP2 periodic tryptophan protein homolog (yeast)	619						cytoplasm|nucleolus	signal transducer activity			cervix(1)|endometrium(6)|large_intestine(6)|lung(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	21				STAD - Stomach adenocarcinoma(101;0.172)|Colorectal(79;0.2)		ACGGCCACAGCATCCTGGCGG	0.582													17	27					0	0	1	0	0	T	45544500	C	T	45544500	2	4	81	1	0	0	0	0	0	0	0	1	12896	709	25	2		2	PWP2	21	45544500	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2333	45544500	2585395	14550	18166											
ICOSLG	23308	broad.mit.edu	37	21	45656874	45656874	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:45656874G>A	ENST00000407780.3	-	3	409	c.282C>T	c.(280-282)ggC>ggT	p.G94G	ICOSLG_ENST00000400379.3_Silent_p.G94G|ICOSLG_ENST00000344330.4_Silent_p.G94G|ICOSLG_ENST00000400377.3_Intron	NM_001283052.1	NP_001269981.1	O75144	ICOSL_HUMAN	inducible T-cell co-stimulator ligand	94	Ig-like V-type.				B cell activation|defense response|hyperosmotic response|positive regulation of activated T cell proliferation|signal transduction|T cell activation|T cell costimulation		receptor binding			endometrium(2)|lung(1)|stomach(1)|urinary_tract(1)	5				Colorectal(79;0.0163)|READ - Rectum adenocarcinoma(84;0.0772)		GGGAGAAGTCGCCCCGCAGCA	0.607													16	44					0	0	1	0	0	A	45656874	G	A	45656874	2	1	81	1	0	0	0	0	0	0	0	1	7531	1074	38	1		1	ICOSLG	21	45656874	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	112374	45656874	2473021	14551	18167											
AIRE	326	broad.mit.edu	37	21	45713694	45713694	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:45713694G>A	ENST00000291582.5	+	11	1428	c.1301G>A	c.(1300-1302)tGc>tAc	p.C434Y	AIRE_ENST00000329347.4_Missense_Mutation_p.A200T|AIRE_ENST00000355347.4_Missense_Mutation_p.C227Y	NM_000383.3	NP_000374.1	O43918	AIRE_HUMAN	autoimmune regulator	434					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	chromatin binding|histone binding|transcription regulatory region DNA binding|translation regulator activity|zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2)|urinary_tract(1)	14				Colorectal(79;0.0806)		GGTGCGCGTTGCGGGGTGTGC	0.706									Autoimmune PolyEndocrinopathy Candidiasis Ectodermal Dystrophy				13	25					0	0	1	0	0	A	45713694	G	A	45713694	3	1	81	1	0	0	0	0	1	0	0	0	434	1319	46	2	1631	2	AIRE	21	45713694	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	56820	45713694	2416201	14552	18168											
PFKL	5211	broad.mit.edu	37	21	45745112	45745112	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:45745112G>A	ENST00000403390.1	+	20	2095	c.2095G>A	c.(2095-2097)Gac>Aac	p.D699N	PFKL_ENST00000349048.4_Missense_Mutation_p.D652N			P17858	K6PL_HUMAN	phosphofructokinase, liver	652					fructose 6-phosphate metabolic process|glycolysis|protein oligomerization	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|fructose-6-phosphate binding|identical protein binding|kinase binding|metal ion binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	23				Colorectal(79;0.0811)		GGGCGTCTTCGACTGCAGGAC	0.622													17	12					0	0	1	0	0	A	45745112	G	A	45745112	3	1	81	1	0	0	0	0	1	0	0	0	11812	1058	37	1	2028	1	PFKL	21	45745112	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	31418	45745112	2384783	14553	18169											
TRPM2	7226	broad.mit.edu	37	21	45784155	45784155	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:45784155A>G	ENST00000397928.1	+	3	858	c.413A>G	c.(412-414)aAg>aGg	p.K138R	TRPM2_ENST00000300482.5_Missense_Mutation_p.K138R|TRPM2_ENST00000300481.9_Missense_Mutation_p.K138R|TRPM2_ENST00000397932.2_Missense_Mutation_p.K138R	NM_003307.3	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	138						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						CTGAGCCAGAAGGTGAAAAAG	0.577													5	63					0	0	1	0	0	G	45784155	A	G	45784155	3	3	81	1	0	0	0	0	1	0	0	0	16647	72	3	3	423	3	TRPM2	21	45784155	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	39043	45784155	2345740	14554	18170											
LRRC3	81543	broad.mit.edu	37	21	45876632	45876632	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:45876632G>T	ENST00000291592.4	+	2	422	c.105G>T	c.(103-105)caG>caT	p.Q35H		NM_030891.3	NP_112153.1	Q9BY71	LRRC3_HUMAN	leucine rich repeat containing 3	35	LRRNT.					integral to membrane	protein binding			endometrium(2)|kidney(1)|lung(1)|urinary_tract(1)	5		Breast(209;0.00908)		COAD - Colon adenocarcinoma(84;0.148)|Lung(125;0.195)		CCTGCCCACAGCCCTGCCGGT	0.701													9	30					1.12685e-05	1.27052e-05	1	1	0	T	45876632	G	T	45876632	3	4	81	1	0	0	0	0	1	0	0	0	9029	962	34	4	107	4	LRRC3	21	45876632	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	92477	45876632	2253263	14555	18171											
KRTAP10-2	386679	broad.mit.edu	37	21	45970949	45970949	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:45970949A>G	ENST00000391621.1	-	1	439	c.393T>C	c.(391-393)tgT>tgC	p.C131C	TSPEAR_ENST00000323084.4_Intron|TSPEAR_ENST00000397916.1_Intron|KRTAP10-2_ENST00000498210.1_Intron	NM_198693.2	NP_941966.1	P60368	KR102_HUMAN	keratin associated protein 10-2	131	22 X 5 AA repeats of C-C-X(3).					keratin filament				large_intestine(1)|lung(4)|skin(1)	6						AGGAAGAGGCACAGCAAGCTG	0.627													12	84					0	0	1	0	0	G	45970949	A	G	45970949	2	3	81	1	0	0	0	0	0	0	0	1	8552	157	6	3		3	KRTAP10-2	21	45970949	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	94317	45970949	2158946	14556	18172											
KRTAP10-10	353333	broad.mit.edu	37	21	46057875	46057875	+	Missense_Mutation	SNP	G	G	A	rs147625145	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:46057875G>A	ENST00000380095.1	+	1	603	c.541G>A	c.(541-543)Gcc>Acc	p.A181T	TSPEAR_ENST00000323084.4_Intron	NM_181688.1	NP_859016.1	P60014	KR10A_HUMAN	keratin associated protein 10-10	181	15 X 5 AA repeats of C-C-X(3).					keratin filament				NS(1)|endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2)	13						TTGCTGCACCGCCTCCTGCTG	0.642													58	101					0	0	1	0	0	A	46057875	G	A	46057875	3	1	81	1	0	0	0	0	1	0	0	0	8549	1087	38	1	543	1	KRTAP10-10	21	46057875	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	86926	46057875	2072020	14557	18173											
SUMO3	6612	broad.mit.edu	37	21	46233927	46233927	+	Silent	SNP	C	C	T	rs11545092		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:46233927C>T	ENST00000332859.6	-	2	274	c.114G>A	c.(112-114)ccG>ccA	p.P38P	SUMO3_ENST00000397898.3_Silent_p.P38P|SUMO3_ENST00000397893.3_Silent_p.P38P|SUMO3_ENST00000479153.1_5'UTR|SUMO3_ENST00000411651.2_Silent_p.P38P	NM_006936.2	NP_008867.2	P55854	SUMO3_HUMAN	small ubiquitin-like modifier 3	38	Ubiquitin-like.		P -> S (in dbSNP:rs1051311).		protein sumoylation	cytoplasm|kinetochore	protein binding			prostate(1)	1				Colorectal(79;0.058)		GCTTGCTCAGCGGCGTGTGCC	0.622													8	129					0	0	1	0	0	T	46233927	C	T	46233927	2	4	81	1	0	0	0	0	0	0	0	1	15445	755	27	1		1	SUMO3	21	46233927	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	176052	46233927	1895968	14558	18174											
COL18A1	80781	broad.mit.edu	37	21	46875554	46875554	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:46875554A>T	ENST00000359759.4	+	1	131	c.110A>T	c.(109-111)gAc>gTc	p.D37V	COL18A1_ENST00000400337.2_Intron|COL18A1_ENST00000355480.5_Missense_Mutation_p.D37V			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	37					cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		AATAATGAGGACACCAGCCAT	0.627													22	49					0	0	1	0	0	T	46875554	A	T	46875554	3	4	81	1	0	0	0	0	1	0	0	0	3698	275	10	5	226	5	COL18A1	21	46875554	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	641627	46875554	1254341	14559	18175											
COL18A1	80781	broad.mit.edu	37	21	46900027	46900027	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:46900027G>T	ENST00000359759.4	+	10	2621	c.2600G>T	c.(2599-2601)gGg>gTg	p.G867V	COL18A1_ENST00000400337.2_Missense_Mutation_p.G452V|COL18A1_ENST00000355480.5_Missense_Mutation_p.G632V			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	867	Triple-helical region 2 (COL2).				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		ggaccccaagggcctccaggg	0.647													18	15					9.16793e-09	1.09544e-08	1	1	0	T	46900027	G	T	46900027	3	4	81	1	0	0	0	0	1	0	0	0	3698	1232	43	5	2752	5	COL18A1	21	46900027	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	24473	46900027	1229868	14560	18176											
COL18A1	80781	broad.mit.edu	37	21	46911189	46911189	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:46911189C>T	ENST00000359759.4	+	21	3384	c.3363C>T	c.(3361-3363)ccC>ccT	p.P1121P	COL18A1_ENST00000400337.2_Silent_p.P706P|COL18A1_ENST00000355480.5_Silent_p.P886P			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	1121	Triple-helical region 4 (COL4).		P -> R.		cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		CTGGCCCCCCCGGACCCCCGG	0.682													7	33					0	0	1	0	0	T	46911189	C	T	46911189	2	4	81	1	0	0	0	0	0	0	0	1	3698	639	23	1		1	COL18A1	21	46911189	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	11162	46911189	1218706	14561	18177											
COL18A1	80781	broad.mit.edu	37	21	46932214	46932214	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:46932214C>T	ENST00000359759.4	+	41	5188	c.5167C>T	c.(5167-5169)Ctg>Ttg	p.L1723L	SLC19A1_ENST00000567670.1_Intron|COL18A1_ENST00000400337.2_Silent_p.L1308L|COL18A1_ENST00000355480.5_Silent_p.L1488L			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	1723	Nonhelical region 11 (NC11).				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		GGCCTCCTCGCTGCTGGGGGG	0.672													4	13					0	0	1	0	0	T	46932214	C	T	46932214	2	4	81	1	0	0	0	0	0	0	0	1	3698	796	28	2		2	COL18A1	21	46932214	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	21025	46932214	1197681	14562	18178											
SLC19A1	6573	broad.mit.edu	37	21	46945844	46945844	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:46945844C>A	ENST00000311124.4	-	5	1332	c.1180G>T	c.(1180-1182)Gag>Tag	p.E394*	SLC19A1_ENST00000380010.4_Nonsense_Mutation_p.E394*|SLC19A1_ENST00000567670.1_Nonsense_Mutation_p.E394*|SLC19A1_ENST00000485649.2_Nonsense_Mutation_p.E354*	NM_194255.2	NP_919231.1	P41440	S19A1_HUMAN	solute carrier family 19 (folate transporter), member 1	394					folic acid metabolic process	integral to plasma membrane|membrane fraction	folic acid binding|folic acid transporter activity|methotrexate transporter activity|reduced folate carrier activity			endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	10				Colorectal(79;0.0569)|READ - Rectum adenocarcinoma(84;0.172)		GCACAGAGCTCTTTAGACAGA	0.567													30	62					5.09552e-08	6.01661e-08	1	1	0	A	46945844	C	A	46945844	4	1	81	1	0	0	0	0	0	1	0	0	14483	922	32	4	603	4	SLC19A1	21	46945844	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	13630	46945844	1184051	14563	18179											
SLC19A1	6573	broad.mit.edu	37	21	46951793	46951793	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:46951793G>A	ENST00000311124.4	-	3	611	c.459C>T	c.(457-459)gcC>gcT	p.A153A	SLC19A1_ENST00000380010.4_Silent_p.A153A|SLC19A1_ENST00000567670.1_Silent_p.A153A|SLC19A1_ENST00000485649.2_Silent_p.A113A	NM_194255.2	NP_919231.1	P41440	S19A1_HUMAN	solute carrier family 19 (folate transporter), member 1	153					folic acid metabolic process	integral to plasma membrane|membrane fraction	folic acid binding|folic acid transporter activity|methotrexate transporter activity|reduced folate carrier activity			endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	10				Colorectal(79;0.0569)|READ - Rectum adenocarcinoma(84;0.172)		GCGAGTAGCCGGCCACACGCT	0.652													2	1					0	0	1	0	0	A	46951793	G	A	46951793	2	1	81	1	0	0	0	0	0	0	0	1	14483	1103	39	1		1	SLC19A1	21	46951793	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	5949	46951793	1178102	14564	18180											
PCBP3	54039	broad.mit.edu	37	21	47320530	47320530	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:47320530G>A	ENST00000400314.1	+	6	553	c.215G>A	c.(214-216)cGt>cAt	p.R72H	PCBP3_ENST00000400304.1_Missense_Mutation_p.R40H|PCBP3_ENST00000400310.1_Missense_Mutation_p.R72H|PCBP3_ENST00000400309.1_Missense_Mutation_p.R72H|PCBP3_ENST00000400308.1_Missense_Mutation_p.R72H|PCBP3_ENST00000449640.1_Missense_Mutation_p.R72H			P57721	PCBP3_HUMAN	poly(rC) binding protein 3	72	KH 1.				mRNA metabolic process	cytosol|mitochondrion|nucleus|ribonucleoprotein complex	DNA binding|RNA binding			biliary_tract(1)|endometrium(3)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17	all_hematologic(128;0.24)			Colorectal(79;0.0411)|READ - Rectum adenocarcinoma(84;0.0649)		AAGAAGATGCGTGAGGAGGTG	0.607													15	30					0	0	1	0	0	A	47320530	G	A	47320530	3	1	81	1	0	0	0	0	1	0	0	0	11549	1145	40	1	229	1	PCBP3	21	47320530	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	368737	47320530	809365	14565	18181											
COL6A1	1291	broad.mit.edu	37	21	47422182	47422182	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:47422182C>T	ENST00000361866.3	+	32	2231	c.2117C>T	c.(2116-2118)gCc>gTc	p.A706V	COL6A1_ENST00000498614.1_3'UTR	NM_001848.2	NP_001839.2	P12109	CO6A1_HUMAN	collagen, type VI, alpha 1	706	C-terminal globular domain.|VWFA 2.				axon guidance|cell adhesion|protein heterotrimerization	collagen type VI|protein complex	platelet-derived growth factor binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	all_hematologic(128;0.24)			Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)	Palifermin(DB00039)	ACGGGGGAGGCCCTGCAGTAC	0.682													4	0					0	0	1	0	0	T	47422182	C	T	47422182	3	4	81	1	0	0	0	0	1	0	0	0	3722	739	26	2	2243	2	COL6A1	21	47422182	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	101652	47422182	707713	14566	18182											
COL6A1	1291	broad.mit.edu	37	21	47423035	47423035	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:47423035C>T	ENST00000361866.3	+	34	2550	c.2436C>T	c.(2434-2436)gaC>gaT	p.D812D	COL6A1_ENST00000498614.1_3'UTR	NM_001848.2	NP_001839.2	P12109	CO6A1_HUMAN	collagen, type VI, alpha 1	812	C-terminal globular domain.				axon guidance|cell adhesion|protein heterotrimerization	collagen type VI|protein complex	platelet-derived growth factor binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	all_hematologic(128;0.24)			Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)	Palifermin(DB00039)	CTTTTACAGACAAGAAGTGTC	0.632													9	24					0	0	1	0	0	T	47423035	C	T	47423035	5	4	81	1	0	0	0	0	0	0	1	0	3722	492	17	2	2570	2	COL6A1	21	47423035	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	853	47423035	706860	14567	18183											
COL6A2	1292	broad.mit.edu	37	21	47532002	47532002	+	Silent	SNP	G	G	A	rs143678454		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:47532002G>A	ENST00000300527.4	+	3	329	c.225G>A	c.(223-225)ccG>ccA	p.P75P	COL6A2_ENST00000409416.1_Silent_p.P75P|COL6A2_ENST00000310645.5_Silent_p.P75P|COL6A2_ENST00000397763.1_Silent_p.P75P|COL6A2_ENST00000357838.4_Silent_p.P75P	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	75	Nonhelical region.|VWFA 1.				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging			NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		AGTTCGTGCCGCAGTTCATCA	0.607													9	35					0	0	1	0	0	A	47532002	G	A	47532002	2	1	81	1	0	0	0	0	0	0	0	1	3723	1074	38	1		1	COL6A2	21	47532002	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	108967	47532002	597893	14568	18184											
COL6A2	1292	broad.mit.edu	37	21	47549205	47549205	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:47549205C>T	ENST00000357838.4	+	28	2639	c.2557C>T	c.(2557-2559)Cag>Tag	p.Q853*	COL6A2_ENST00000409416.1_3'UTR|COL6A2_ENST00000300527.4_Intron|COL6A2_ENST00000310645.5_3'UTR|COL6A2_ENST00000397763.1_Nonsense_Mutation_p.Q853*	NM_058174.2	NP_478054.2	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	0	Nonhelical region.|VWFA 3.		R -> Q (in BM).		axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging			NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		CCTGATCCAACAGTTGCTAAA	0.692													9	125					0	0	1	0	0	T	47549205	C	T	47549205	4	4	81	1	0	0	0	0	0	1	0	0	3723	479	17	2	2693	2	COL6A2	21	47549205	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	17203	47549205	580690	14569	18185											
COL6A2	1292	broad.mit.edu	37	21	47549280	47549280	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:47549280G>A	ENST00000357838.4	+	28	2714	c.2632G>A	c.(2632-2634)Gcc>Acc	p.A878T	COL6A2_ENST00000409416.1_3'UTR|COL6A2_ENST00000300527.4_Intron|COL6A2_ENST00000310645.5_3'UTR|COL6A2_ENST00000397763.1_Missense_Mutation_p.A878T	NM_058174.2	NP_478054.2	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	0	Nonhelical region.|VWFA 3.				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging			NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		GGTCTACACCGCCGAGCGGGC	0.642													27	42					0	0	1	0	0	A	47549280	G	A	47549280	3	1	81	1	0	0	0	0	1	0	0	0	3723	1087	38	1	2768	1	COL6A2	21	47549280	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	75	47549280	580615	14570	18186											
FTCD	10841	broad.mit.edu	37	21	47570386	47570386	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:47570386G>A	ENST00000397748.1	-	6	733	c.690C>T	c.(688-690)aaC>aaT	p.N230N	FTCD_ENST00000397746.3_Silent_p.N230N|FTCD_ENST00000291670.5_Silent_p.N230N|FTCD_ENST00000397743.1_Silent_p.N230N|FTCD_ENST00000355384.2_Silent_p.N230N|FTCD_ENST00000359679.2_Silent_p.N230N|FTCD_ENST00000498355.2_5'UTR			O95954	FTCD_HUMAN	formimidoyltransferase cyclodeaminase	230	Formiminotransferase C-subdomain (By similarity).				folic acid-containing compound metabolic process|histidine catabolic process	centriole|cytosol|Golgi apparatus	folic acid binding|formimidoyltetrahydrofolate cyclodeaminase activity|glutamate formimidoyltransferase activity			endometrium(1)|large_intestine(2)|lung(9)|pancreas(1)|prostate(3)|skin(3)	19	Breast(49;0.214)			Colorectal(79;0.235)	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116)	CCTGAGCCAGGTTCTTCTCAT	0.577													48	51					0	0	1	0	0	A	47570386	G	A	47570386	2	1	81	1	0	0	0	0	0	0	0	1	6116	1252	44	2		2	FTCD	21	47570386	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	21106	47570386	559509	14571	18187											
LSS	4047	broad.mit.edu	37	21	47626623	47626623	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:47626623C>T	ENST00000397728.3	-	16	1605	c.1527G>A	c.(1525-1527)ggG>ggA	p.G509G	LSS_ENST00000356396.4_Silent_p.G509G|LSS_ENST00000522411.1_Silent_p.G498G|LSS_ENST00000457828.2_Silent_p.G429G	NM_001145436.1|NM_002340.5	NP_001138908.1|NP_002331.3	P48449	ERG7_HUMAN	lanosterol synthase (2,3-oxidosqualene-lanosterol cyclase)	509					cholesterol biosynthetic process	endoplasmic reticulum membrane	lanosterol synthase activity			cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|skin(1)|urinary_tract(1)	21	Breast(49;0.214)					CCAGCAAGTGCCCCCCACGCT	0.597													20	32					0	0	1	0	0	T	47626623	C	T	47626623	2	4	81	1	0	0	0	0	0	0	0	1	9110	726	26	2		2	LSS	21	47626623	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	56237	47626623	503272	14572	18188											
LSS	4047	broad.mit.edu	37	21	47635159	47635159	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:47635159C>T	ENST00000397728.3	-	9	1024	c.946G>A	c.(946-948)Gtg>Atg	p.V316M	LSS_ENST00000356396.4_Missense_Mutation_p.V316M|LSS_ENST00000522411.1_Missense_Mutation_p.V305M|LSS_ENST00000457828.2_Missense_Mutation_p.V236M	NM_001145436.1|NM_002340.5	NP_001138908.1|NP_002331.3	P48449	ERG7_HUMAN	lanosterol synthase (2,3-oxidosqualene-lanosterol cyclase)	316					cholesterol biosynthetic process	endoplasmic reticulum membrane	lanosterol synthase activity			cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|skin(1)|urinary_tract(1)	21	Breast(49;0.214)					AGCTTCTGCACGGCCCGCTGC	0.637													4	45					0	0	1	0	0	T	47635159	C	T	47635159	3	4	81	1	0	0	0	0	1	0	0	0	9110	536	19	1	1308	1	LSS	21	47635159	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	8536	47635159	494736	14573	18189											
MCM3AP	8888	broad.mit.edu	37	21	47663565	47663565	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:47663565G>A	ENST00000397708.1	-	25	5364	c.5110C>T	c.(5110-5112)Cct>Tct	p.P1704S	MCM3AP-AS1_ENST00000414659.1_RNA|MCM3AP_ENST00000467026.1_5'UTR|MCM3AP-AS1_ENST00000588753.1_RNA|MCM3AP_ENST00000291688.1_Missense_Mutation_p.P1704S|MCM3AP-AS1_ENST00000455567.1_RNA|MCM3AP-AS1_ENST00000590829.1_RNA|MCM3AP-AS1_ENST00000591223.1_RNA			O60318	MCM3A_HUMAN	minichromosome maintenance complex component 3 associated protein	1704					DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					TGGAGGACAGGCTGTGTCTGG	0.612													22	26					0	0	1	0	0	A	47663565	G	A	47663565	3	1	81	1	0	0	0	0	1	0	0	0	9438	1203	42	2	852	2	MCM3AP	21	47663565	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	28406	47663565	466330	14574	18190											
MCM3AP	8888	broad.mit.edu	37	21	47692609	47692609	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:47692609C>A	ENST00000397708.1	-	9	2585	c.2331G>T	c.(2329-2331)gaG>gaT	p.E777D	MCM3AP_ENST00000291688.1_Missense_Mutation_p.E777D			O60318	MCM3A_HUMAN	minichromosome maintenance complex component 3 associated protein	777					DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					TGGTCATGTTCTCATTATTGA	0.527													52	76					3.19069e-20	4.16476e-20	1	1	0	A	47692609	C	A	47692609	3	1	81	1	0	0	0	0	1	0	0	0	9438	912	32	4	3695	4	MCM3AP	21	47692609	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	29044	47692609	437286	14575	18191											
PCNT	5116	broad.mit.edu	37	21	47819616	47819616	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:47819616G>A	ENST00000359568.5	+	25	4804	c.4697G>A	c.(4696-4698)cGt>cAt	p.R1566H	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	1566					cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					GAAATTAAACGTCTGGAGGAG	0.398													39	54					0	0	1	0	0	A	47819616	G	A	47819616	3	1	81	1	0	0	0	0	1	0	0	0	11637	1145	40	1	4795	1	PCNT	21	47819616	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	127007	47819616	310279	14576	18192											
PCNT	5116	broad.mit.edu	37	21	47836174	47836174	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:47836174C>T	ENST00000359568.5	+	30	6449	c.6342C>T	c.(6340-6342)tcC>tcT	p.S2114S	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	2114					cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					GTGATGATTCCTGTGACGGAG	0.507													16	15					0	0	1	0	0	T	47836174	C	T	47836174	2	4	81	1	0	0	0	0	0	0	0	1	11637	668	24	2		2	PCNT	21	47836174	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	16558	47836174	293721	14577	18193											
PCNT	5116	broad.mit.edu	37	21	47851604	47851604	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:47851604G>A	ENST00000359568.5	+	38	8333	c.8226G>A	c.(8224-8226)gaG>gaA	p.E2742E	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	2742					cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					AGCTCTCTGAGCTCCAGAAGG	0.642													5	19					0	0	1	0	0	A	47851604	G	A	47851604	2	1	81	1	0	0	0	0	0	0	0	1	11637	962	34	2		2	PCNT	21	47851604	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	15430	47851604	278291	14578	18194											
PCNT	5116	broad.mit.edu	37	21	47851752	47851752	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:47851752C>T	ENST00000359568.5	+	38	8481	c.8374C>T	c.(8374-8376)Cag>Tag	p.Q2792*	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	2792			Q -> R (in dbSNP:rs2073376).		cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					CGCTCTGCTGCAGAAGCTGAA	0.612													16	11					0	0	1	0	0	T	47851752	C	T	47851752	4	4	81	1	0	0	0	0	0	1	0	0	11637	711	25	2	8524	2	PCNT	21	47851752	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	148	47851752	278143	14579	18195											
DIP2A	23181	broad.mit.edu	37	21	47969687	47969687	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:47969687C>T	ENST00000318711.7	+	22	2712	c.2529C>T	c.(2527-2529)atC>atT	p.I843I	DIP2A_ENST00000400274.1_Silent_p.I838I|DIP2A_ENST00000417564.2_Silent_p.I842I|DIP2A_ENST00000457905.3_Silent_p.I842I|DIP2A_ENST00000427143.2_Silent_p.I778I	NM_001146116.1|NM_015151.3	NP_001139588.1|NP_055966.2	Q14689	DIP2A_HUMAN	DIP2 disco-interacting protein 2 homolog A (Drosophila)	842					multicellular organismal development	nucleus	catalytic activity|transcription factor binding			cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		CCCGCAGGATCGCTGTGTTCT	0.587													30	72					0	0	1	0	0	T	47969687	C	T	47969687	2	4	81	1	0	0	0	0	0	0	0	1	4555	874	31	1		1	DIP2A	21	47969687	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	117935	47969687	160208	14580	18196											
PRMT2	3275	broad.mit.edu	37	21	48063522	48063522	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:48063522G>A	ENST00000397637.1	+	3	1069	c.115G>A	c.(115-117)Gcg>Acg	p.A39T	PRMT2_ENST00000458387.2_Missense_Mutation_p.A39T|PRMT2_ENST00000440086.1_Missense_Mutation_p.A39T|PRMT2_ENST00000397628.1_Missense_Mutation_p.A39T|PRMT2_ENST00000334494.4_Missense_Mutation_p.A39T|PRMT2_ENST00000397638.2_Missense_Mutation_p.A39T|PRMT2_ENST00000451211.2_Missense_Mutation_p.A39T|PRMT2_ENST00000291705.6_Missense_Mutation_p.A39T|PRMT2_ENST00000355680.3_Missense_Mutation_p.A39T			P55345	ANM2_HUMAN	protein arginine methyltransferase 2	39	SH3.				developmental cell growth|induction of apoptosis|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of NF-kappaB transcription factor activity|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of androgen receptor signaling pathway	cytosol|nucleus	androgen receptor binding|estrogen receptor binding|histone-arginine N-methyltransferase activity|peroxisome proliferator activated receptor binding|progesterone receptor binding|protein homodimerization activity|retinoic acid receptor binding|signal transducer activity|thyroid hormone receptor binding|transcription coactivator activity			NS(1)|breast(3)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16	Breast(49;0.247)	Lung NSC(3;0.245)		Epithelial(3;1.03e-07)|OV - Ovarian serous cystadenocarcinoma(3;4.68e-07)|all cancers(3;7.48e-07)|Colorectal(79;0.167)|Lung(125;0.203)|LUSC - Lung squamous cell carcinoma(216;0.23)|READ - Rectum adenocarcinoma(84;0.248)		TGTGGCCATCGCGGACTACGC	0.537													36	51					0	0	1	0	0	A	48063522	G	A	48063522	3	1	81	1	0	0	0	0	1	0	0	0	12589	1087	38	1	121	1	PRMT2	21	48063522	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	93835	48063522	66373	14581	18197											
PRMT2	3275	broad.mit.edu	37	21	48068466	48068466	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:48068466C>A	ENST00000397637.1	+	5	1378	c.424C>A	c.(424-426)Ctg>Atg	p.L142M	PRMT2_ENST00000491389.1_3'UTR|PRMT2_ENST00000458387.2_Missense_Mutation_p.L142M|PRMT2_ENST00000440086.1_Missense_Mutation_p.L142M|PRMT2_ENST00000397628.1_Missense_Mutation_p.L142M|PRMT2_ENST00000334494.4_Missense_Mutation_p.L142M|PRMT2_ENST00000397638.2_Missense_Mutation_p.L142M|PRMT2_ENST00000451211.2_Missense_Mutation_p.L142M|PRMT2_ENST00000291705.6_Missense_Mutation_p.L142M|PRMT2_ENST00000355680.3_Missense_Mutation_p.L142M			P55345	ANM2_HUMAN	protein arginine methyltransferase 2	142	Interaction with ESR1.|Interaction with RB1 (By similarity).				developmental cell growth|induction of apoptosis|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of NF-kappaB transcription factor activity|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of androgen receptor signaling pathway	cytosol|nucleus	androgen receptor binding|estrogen receptor binding|histone-arginine N-methyltransferase activity|peroxisome proliferator activated receptor binding|progesterone receptor binding|protein homodimerization activity|retinoic acid receptor binding|signal transducer activity|thyroid hormone receptor binding|transcription coactivator activity			NS(1)|breast(3)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16	Breast(49;0.247)	Lung NSC(3;0.245)		Epithelial(3;1.03e-07)|OV - Ovarian serous cystadenocarcinoma(3;4.68e-07)|all cancers(3;7.48e-07)|Colorectal(79;0.167)|Lung(125;0.203)|LUSC - Lung squamous cell carcinoma(216;0.23)|READ - Rectum adenocarcinoma(84;0.248)		TAAAGTCATCCTGGACGTGGG	0.537													8	108					0.0477658	0.0487066	1	1	0	A	48068466	C	A	48068466	3	1	81	1	0	0	0	0	1	0	0	0	12589	680	24	4	438	4	PRMT2	21	48068466	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	4944	48068466	61429	14582	18198											
POTEH	23784	broad.mit.edu	37	22	16267028	16267028	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:16267028G>A	ENST00000343518.6	-	9	1472	c.1421C>T	c.(1420-1422)gCc>gTc	p.A474V		NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H	474										NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						GTCAGCAGTGGCACCGTTAGT	0.408													40	411					0	0	1	0	0	A	16267028	G	A	16267028	3	1	81	1	0	0	0	0	1	0	0	0	12314	1203	42	2	224	2	POTEH	22	16267028	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08		16267028	35037538	14583	18199											
POTEH	23784	broad.mit.edu	37	22	16267041	16267041	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:16267041G>T	ENST00000343518.6	-	9	1459	c.1408C>A	c.(1408-1410)Ctg>Atg	p.L470M		NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H	470										NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						CCGTTAGTCAGGTTTTCTGGG	0.403													30	446					2.85442e-18	3.69892e-18	1	1	0	T	16267041	G	T	16267041	3	4	81	1	0	0	0	0	1	0	0	0	12314	991	35	4	237	4	POTEH	22	16267041	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	13	16267041	35037525	14584	18200											
CCT8L2	150160	broad.mit.edu	37	22	17072024	17072024	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:17072024C>A	ENST00000359963.3	-	1	1676	c.1417G>T	c.(1417-1419)Ggt>Tgt	p.G473C		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	473					cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity			breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				AGGTTCCCACCTTGGTGCACT	0.507													12	114					7.93312e-07	9.15943e-07	1	1	0	A	17072024	C	A	17072024	3	1	81	1	0	0	0	0	1	0	0	0	2983	681	24	4	260	4	CCT8L2	22	17072024	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	804983	17072024	34232542	14585	18201											
CCT8L2	150160	broad.mit.edu	37	22	17073125	17073125	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:17073125C>A	ENST00000359963.3	-	1	575	c.316G>T	c.(316-318)Gcc>Tcc	p.A106S		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	106					cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity			breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				ACCACGAAGGCTGTGCCGTCC	0.662													10	24					0.000442599	0.000477972	1	1	0	A	17073125	C	A	17073125	3	1	81	1	0	0	0	0	1	0	0	0	2983	797	28	4	1361	4	CCT8L2	22	17073125	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1101	17073125	34231441	14586	18202											
XKR3	150165	broad.mit.edu	37	22	17280789	17280789	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:17280789C>A	ENST00000331428.5	-	3	563	c.461G>T	c.(460-462)cGg>cTg	p.R154L		NM_175878.3	NP_787074.2	Q5GH77	XKR3_HUMAN	XK, Kell blood group complex subunit-related family, member 3	154						integral to membrane|plasma membrane				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				GAAATTATCCCGGATTGAGAA	0.398													24	165					4.87955e-14	6.177e-14	1	1	0	A	17280789	C	A	17280789	3	1	81	1	0	0	0	0	1	0	0	0	17492	652	23	5	926	5	XKR3	22	17280789	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	207664	17280789	34023777	14587	18203											
GAB4	128954	broad.mit.edu	37	22	17447227	17447227	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:17447227C>A	ENST00000400588.1	-	6	1158	c.1051G>T	c.(1051-1053)Gac>Tac	p.D351Y		NM_001037814.1	NP_001032903.1	Q2WGN9	GAB4_HUMAN	GRB2-associated binding protein family, member 4	351										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(24)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44		all_epithelial(15;0.112)|Lung NSC(13;0.248)				GCAATGCTGTCTGACAGGCCC	0.527													7	18					0.0293803	0.0300537	1	1	0	A	17447227	C	A	17447227	3	1	81	1	0	0	0	0	1	0	0	0	6186	913	32	4	693	4	GAB4	22	17447227	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	166438	17447227	33857339	14588	18204											
GAB4	128954	broad.mit.edu	37	22	17488898	17488898	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:17488898C>A	ENST00000400588.1	-	1	214	c.107G>T	c.(106-108)aGa>aTa	p.R36I		NM_001037814.1	NP_001032903.1	Q2WGN9	GAB4_HUMAN	GRB2-associated binding protein family, member 4	36										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(24)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44		all_epithelial(15;0.112)|Lung NSC(13;0.248)				GTGGCCACTTCTCGTGCTTCC	0.682													3	5					0.184627	0.18622	1	1	0	A	17488898	C	A	17488898	3	1	81	1	0	0	0	0	1	0	0	0	6186	913	32	4	1657	4	GAB4	22	17488898	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	41671	17488898	33815668	14589	18205											
IL17RA	23765	broad.mit.edu	37	22	17589306	17589306	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:17589306C>T	ENST00000319363.6	+	13	1330	c.1197C>T	c.(1195-1197)gcC>gcT	p.A399A		NM_014339.5	NP_055154.3	Q96F46	I17RA_HUMAN	interleukin 17 receptor A	399	SEFIR.				fibroblast activation|positive regulation of interleukin-23 production	integral to plasma membrane	interleukin-17 receptor activity			endometrium(2)|large_intestine(8)|lung(16)|ovary(1)|skin(2)|stomach(1)	30		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)		Colorectal(9;0.241)		TGAAATTCGCCCAGTTCCTGC	0.642													17	30					0	0	1	0	0	T	17589306	C	T	17589306	2	4	81	1	0	0	0	0	0	0	0	1	7683	610	22	2		2	IL17RA	22	17589306	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	100408	17589306	33715260	14590	18206											
CECR6	27439	broad.mit.edu	37	22	17601078	17601078	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:17601078C>T	ENST00000331437.3	-	1	1065	c.940G>A	c.(940-942)Gcc>Acc	p.A314T	CECR6_ENST00000399875.1_Intron	NM_031890.3	NP_114096.1	Q9BXQ6	CECR6_HUMAN	cat eye syndrome chromosome region, candidate 6	314	Ala-rich.									haematopoietic_and_lymphoid_tissue(1)	1		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)		Colorectal(9;0.221)		GCCAGGTAGGCGAAGGCGAAC	0.731													11	23					0	0	1	0	0	T	17601078	C	T	17601078	3	4	81	1	0	0	0	0	1	0	0	0	3230	768	27	1	800	1	CECR6	22	17601078	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	11772	17601078	33703488	14591	18207											
CECR1	51816	broad.mit.edu	37	22	17670843	17670843	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:17670843C>A	ENST00000399839.1	-	6	1231	c.961G>T	c.(961-963)Ggg>Tgg	p.G321W	CECR1_ENST00000399837.2_Missense_Mutation_p.G321W|CECR1_ENST00000262607.3_Missense_Mutation_p.G321W|CECR1_ENST00000449907.2_Missense_Mutation_p.G279W|CECR1_ENST00000330232.4_Missense_Mutation_p.G80W|CECR1_ENST00000480276.1_5'UTR	NM_001282227.1|NM_001282228.1	NP_001269156.1|NP_001269157.1	Q9NZK5	CECR1_HUMAN	cat eye syndrome chromosome region, candidate 1	321					adenosine catabolic process|hypoxanthine salvage|inosine biosynthetic process|multicellular organismal development|purine ribonucleoside monophosphate biosynthetic process	extracellular space|Golgi apparatus	adenosine deaminase activity|adenosine receptor binding|growth factor activity|heparin binding|protein homodimerization activity|proteoglycan binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|prostate(2)|stomach(1)	25		all_epithelial(15;0.0152)|Lung NSC(13;0.0875)|all_lung(157;0.106)				AGGTCAAACCCTGCCACCACC	0.577													19	23					8.34094e-07	9.62661e-07	1	1	0	A	17670843	C	A	17670843	3	1	81	1	0	0	0	0	1	0	0	0	3227	681	24	4	594	4	CECR1	22	17670843	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	69765	17670843	33633723	14592	18208											
CECR1	51816	broad.mit.edu	37	22	17690298	17690298	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:17690298C>T	ENST00000399839.1	-	2	540	c.270G>A	c.(268-270)aaG>aaA	p.K90K	CECR1_ENST00000399837.2_Silent_p.K90K|CECR1_ENST00000262607.3_Silent_p.K90K|CECR1_ENST00000449907.2_Silent_p.K48K	NM_001282227.1|NM_001282228.1	NP_001269156.1|NP_001269157.1	Q9NZK5	CECR1_HUMAN	cat eye syndrome chromosome region, candidate 1	90	Dimerization.				adenosine catabolic process|hypoxanthine salvage|inosine biosynthetic process|multicellular organismal development|purine ribonucleoside monophosphate biosynthetic process	extracellular space|Golgi apparatus	adenosine deaminase activity|adenosine receptor binding|growth factor activity|heparin binding|protein homodimerization activity|proteoglycan binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|prostate(2)|stomach(1)	25		all_epithelial(15;0.0152)|Lung NSC(13;0.0875)|all_lung(157;0.106)				CAATGAGATGCTTGGCCTGGA	0.498													16	23					0	0	1	0	0	T	17690298	C	T	17690298	2	4	81	1	0	0	0	0	0	0	0	1	3227	796	28	2		2	CECR1	22	17690298	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	19455	17690298	33614268	14593	18209											
CECR2	27443	broad.mit.edu	37	22	18028274	18028274	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:18028274G>A	ENST00000400573.5	+	17	3238	c.3231G>A	c.(3229-3231)gcG>gcA	p.A1077A	CECR2_ENST00000400585.2_Silent_p.A935A|CECR2_ENST00000262608.8_Silent_p.A1078A			Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2						chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport		protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		AGAACGCAGCGACACCGCCCA	0.607													9	12					0	0	1	0	0	A	18028274	G	A	18028274	2	1	81	1	0	0	0	0	0	0	0	1	3228	1045	37	1		1	CECR2	22	18028274	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	337976	18028274	33276292	14594	18210											
SLC25A18	83733	broad.mit.edu	37	22	18066240	18066240	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:18066240G>A	ENST00000327451.6	+	7	887	c.349G>A	c.(349-351)Gtc>Atc	p.V117I	AC004019.13_ENST00000443935.1_RNA|SLC25A18_ENST00000497401.1_3'UTR|SLC25A18_ENST00000399813.1_Missense_Mutation_p.V117I	NM_031481.1	NP_113669.1	Q9H1K4	GHC2_HUMAN	solute carrier family 25 (glutamate carrier), member 18							integral to membrane|mitochondrial inner membrane	binding|symporter activity			breast(4)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)	18				Lung(27;0.124)	L-Glutamic Acid(DB00142)	GATGTGCCAGGTCGTGGTGAC	0.607													35	39					0	0	1	0	0	A	18066240	G	A	18066240	3	1	81	1	0	0	0	0	1	0	0	0	14535	1261	44	2	367	2	SLC25A18	22	18066240	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	37966	18066240	33238326	14595	18211											
MICAL3	57553	broad.mit.edu	37	22	18300809	18300809	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:18300809G>A	ENST00000441493.2	-	26	4970	c.4618C>T	c.(4618-4620)Cag>Tag	p.Q1540*		NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	1540						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		AATTTCTCCTGCAGGCTTGAG	0.622													12	19					0	0	1	0	0	A	18300809	G	A	18300809	4	1	81	1	0	0	0	0	0	1	0	0	9619	1328	46	2	1418	2	MICAL3	22	18300809	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	234569	18300809	33003757	14596	18212											
MICAL3	57553	broad.mit.edu	37	22	18324748	18324748	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:18324748C>T	ENST00000441493.2	-	20	2993	c.2641G>A	c.(2641-2643)Gcc>Acc	p.A881T	MICAL3_ENST00000414725.2_Missense_Mutation_p.A909T|MICAL3_ENST00000207726.7_Missense_Mutation_p.A909T|MICAL3_ENST00000444520.1_Missense_Mutation_p.A881T|MICAL3_ENST00000383094.3_Missense_Mutation_p.A881T|MICAL3_ENST00000400561.2_Missense_Mutation_p.A881T	NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	881						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		AGTCGCTTGGCGATGCTGGGC	0.662													8	19					0	0	1	0	0	T	18324748	C	T	18324748	3	4	81	1	0	0	0	0	1	0	0	0	9619	768	27	1	3523	1	MICAL3	22	18324748	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	23939	18324748	32979818	14597	18213											
MICAL3	57553	broad.mit.edu	37	22	18347660	18347660	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:18347660G>A	ENST00000429452.1	-	23	3334	c.2982C>T	c.(2980-2982)agC>agT	p.S994S	MICAL3_ENST00000585038.1_Silent_p.S994S|MICAL3_ENST00000414725.2_Intron|MICAL3_ENST00000207726.7_Intron|MICAL3_ENST00000441493.2_Intron|MICAL3_ENST00000444520.1_Intron|MICAL3_ENST00000383094.3_Intron|MICAL3_ENST00000400561.2_Intron	NM_001136004.1	NP_001129476.1	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	870	Glu-rich.					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		AGGAAGTGAGGCTACCTGGGG	0.602													23	55					0	0	1	0	0	A	18347660	G	A	18347660	2	1	81	1	0	0	0	0	0	0	0	1	9619	1194	42	2		2	MICAL3	22	18347660	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	22912	18347660	32956906	14598	18214											
MICAL3	57553	broad.mit.edu	37	22	18368817	18368817	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:18368817C>A	ENST00000441493.2	-	16	2420	c.2068G>T	c.(2068-2070)Gag>Tag	p.E690*	MICAL3_ENST00000585038.1_Splice_Site_p.E690*|MICAL3_ENST00000414725.2_Splice_Site_p.E690*|MICAL3_ENST00000429452.1_Splice_Site_p.E690*|MICAL3_ENST00000207726.7_Splice_Site_p.E690*|MICAL3_ENST00000444520.1_Splice_Site_p.E690*|MICAL3_ENST00000383094.3_Splice_Site_p.E690*|MICAL3_ENST00000400561.2_Splice_Site_p.E690*	NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	690	Poly-Glu.					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		GGAGCTTCCTCCTGGTCAATG	0.612													11	107					0.00829132	0.00865729	1	1	0	A	18368817	C	A	18368817	5	1	81	1	0	0	0	0	0	0	1	0	9619	869	30	5	4745	5	MICAL3	22	18368817	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	21157	18368817	32935749	14599	18215											
MICAL3	57553	broad.mit.edu	37	22	18385396	18385396	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:18385396C>T	ENST00000441493.2	-	4	942		c.e4+1		MICAL3_ENST00000585038.1_Splice_Site|MICAL3_ENST00000414725.2_Splice_Site|MICAL3_ENST00000429452.1_Splice_Site|MICAL3_ENST00000207726.7_Splice_Site|MICAL3_ENST00000444520.1_Splice_Site|MICAL3_ENST00000383094.3_Splice_Site|MICAL3_ENST00000400561.2_Splice_Site	NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3							cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		GTATAACTTACGTTCATTCTC	0.468													7	8					0	0	1	0	0	T	18385396	C	T	18385396	5	4	81	1	0	0	0	0	0	0	1	0	9619	550	19	1	6271	1	MICAL3	22	18385396	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	16579	18385396	32919170	14600	18216											
PRODH	5625	broad.mit.edu	37	22	18918708	18918708	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:18918708G>A	ENST00000357068.6	-	2	542	c.277C>T	c.(277-279)Ctg>Ttg	p.L93L	PRODH_ENST00000334029.2_5'UTR|PRODH_ENST00000420436.1_Intron	NM_016335.4	NP_057419	O43272	PROD_HUMAN	proline dehydrogenase (oxidase) 1	93					glutamate biosynthetic process|induction of apoptosis by oxidative stress|proline catabolic process	mitochondrial inner membrane|mitochondrial matrix	proline dehydrogenase activity			breast(1)|endometrium(3)|lung(4)|upper_aerodigestive_tract(1)	9					L-Proline(DB00172)	GAAACATACAGCAGCTGAAAG	0.547													12	13					0	0	1	0	0	A	18918708	G	A	18918708	2	1	81	1	0	0	0	0	0	0	0	1	12600	962	34	2		2	PRODH	22	18918708	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	533312	18918708	32385858	14601	18217											
DGCR2	9993	broad.mit.edu	37	22	19048416	19048416	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:19048416G>A	ENST00000545799.1	-	6	869	c.669C>T	c.(667-669)gtC>gtT	p.V223V	DGCR2_ENST00000537045.1_Intron|DGCR2_ENST00000263196.7_Intron|DGCR2_ENST00000473832.1_Intron			P98153	IDD_HUMAN	DiGeorge syndrome critical region gene 2	0	C-type lectin.				cell adhesion|organ morphogenesis	integral to membrane	receptor activity|sugar binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)	18	Colorectal(54;0.0993)					GCAGGGTACCGACACATGGGC	0.522													5	8					0	0	1	0	0	A	19048416	G	A	19048416	2	1	81	1	0	0	0	0	0	0	0	1	4489	1073	37	1		1	DGCR2	22	19048416	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	129708	19048416	32256150	14602	18218											
TSSK2	23617	broad.mit.edu	37	22	19118978	19118978	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:19118978C>A	ENST00000399635.2	+	1	658	c.66C>A	c.(64-66)tcC>tcA	p.S22S	DGCR14_ENST00000252137.6_3'UTR	NM_053006.4	NP_443732.3	Q96PF2	TSSK2_HUMAN	testis-specific serine kinase 2	22	Protein kinase.				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			endometrium(2)|large_intestine(2)|lung(2)|prostate(4)|stomach(1)	11	Colorectal(54;0.0993)					GCAAGGGTTCCTACGCAAAAG	0.517													15	20					0.00244969	0.00258825	1	1	0	A	19118978	C	A	19118978	2	1	81	1	0	0	0	0	0	0	0	1	16730	668	24	4		4	TSSK2	22	19118978	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	70562	19118978	32185588	14603	18219											
TSSK2	23617	broad.mit.edu	37	22	19119140	19119140	+	Silent	SNP	C	C	T	rs150544486		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:19119140C>T	ENST00000399635.2	+	1	820	c.228C>T	c.(226-228)taC>taT	p.Y76Y	DGCR14_ENST00000252137.6_3'UTR	NM_053006.4	NP_443732.3	Q96PF2	TSSK2_HUMAN	testis-specific serine kinase 2	76	Protein kinase.				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			endometrium(2)|large_intestine(2)|lung(2)|prostate(4)|stomach(1)	11	Colorectal(54;0.0993)					TCAAGACTTACGAGATCTTTG	0.537													4	31					0	0	1	0	0	T	19119140	C	T	19119140	2	4	81	1	0	0	0	0	0	0	0	1	16730	547	19	1		1	TSSK2	22	19119140	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	162	19119140	32185426	14604	18220											
TSSK2	23617	broad.mit.edu	37	22	19119390	19119390	+	Missense_Mutation	SNP	C	C	T	rs144966098	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:19119390C>T	ENST00000399635.2	+	1	1070	c.478C>T	c.(478-480)Cgc>Tgc	p.R160C	DGCR14_ENST00000252137.6_3'UTR	NM_053006.4	NP_443732.3	Q96PF2	TSSK2_HUMAN	testis-specific serine kinase 2	160	Protein kinase.				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			endometrium(2)|large_intestine(2)|lung(2)|prostate(4)|stomach(1)	11	Colorectal(54;0.0993)					CTTCTCCAAGCGCTGCCTGCG	0.597													35	55					0	0	1	0	0	T	19119390	C	T	19119390	3	4	81	1	0	0	0	0	1	0	0	0	16730	768	27	1	480	1	TSSK2	22	19119390	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	250	19119390	32185176	14605	18221											
DGCR14	8220	broad.mit.edu	37	22	19122584	19122584	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:19122584C>T	ENST00000252137.6	-	9	1183	c.1140G>A	c.(1138-1140)gaG>gaA	p.E380E		NM_022719.2	NP_073210.1	Q96DF8	DGC14_HUMAN	DiGeorge syndrome critical region gene 14	380					nervous system development	catalytic step 2 spliceosome				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)	16	Colorectal(54;0.0993)					TGGCCAGATTCTCCGTCACTC	0.682													7	70					0	0	1	0	0	T	19122584	C	T	19122584	2	4	81	1	0	0	0	0	0	0	0	1	4488	912	32	2		2	DGCR14	22	19122584	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3194	19122584	32181982	14606	18222											
GSC2	2928	broad.mit.edu	37	22	19137263	19137263	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:19137263C>A	ENST00000086933.2	-	2	425	c.426G>T	c.(424-426)gaG>gaT	p.E142D		NM_005315.1	NP_005306.1	O15499	GSC2_HUMAN	goosecoid homeobox 2	142					anatomical structure morphogenesis|regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(1)|lung(2)	4	Colorectal(54;0.0993)					CGAAAAGCGCCTCGAGCGCCT	0.721													5	3					0.184627	0.18622	1	1	0	A	19137263	C	A	19137263	3	1	81	1	0	0	0	0	1	0	0	0	6856	680	24	4	198	4	GSC2	22	19137263	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	14679	19137263	32167303	14607	18223											
CLTCL1	8218	broad.mit.edu	37	22	19207451	19207451	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:19207451C>T	ENST00000263200.10	-	18	2934	c.2862G>A	c.(2860-2862)gaG>gaA	p.E954E	CLTCL1_ENST00000427926.1_Silent_p.E954E|CLTCL1_ENST00000353891.5_Silent_p.E954E	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1	954	Heavy chain arm.|Proximal segment.				anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network	protein binding|signal transducer activity|structural molecule activity			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					GAGCCCAGAGCTCCGGATCCT	0.527			T	?	ALCL								39	70					0	0	1	0	0	T	19207451	C	T	19207451	2	4	81	1	0	0	0	0	0	0	0	1	3590	796	28	2		2	CLTCL1	22	19207451	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	70188	19207451	32097115	14608	18224											
CLTCL1	8218	broad.mit.edu	37	22	19213861	19213861	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:19213861G>T	ENST00000263200.10	-	12	1900	c.1828C>A	c.(1828-1830)Cgg>Agg	p.R610R	CLTCL1_ENST00000427926.1_Silent_p.R610R|CLTCL1_ENST00000353891.5_Silent_p.R610R	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1	610	Distal segment.|Heavy chain arm.				anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network	protein binding|signal transducer activity|structural molecule activity			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					ATGTGGGCCCGGTCGTAATGA	0.502			T	?	ALCL								20	29					1.22574e-08	1.46304e-08	1	1	0	T	19213861	G	T	19213861	2	4	81	1	0	0	0	0	0	0	0	1	3590	1115	39	5		5	CLTCL1	22	19213861	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	6410	19213861	32090705	14609	18225											
HIRA	7290	broad.mit.edu	37	22	19319035	19319035	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:19319035G>A	ENST00000263208.5	-	25	3238	c.2982C>T	c.(2980-2982)atC>atT	p.I994I	HIRA_ENST00000541063.1_Silent_p.I950I|HIRA_ENST00000340170.4_Silent_p.I787I	NM_003325.3	NP_003316.3	P54198	HIRA_HUMAN	histone cell cycle regulator	994	Interaction with histone H4.				chromatin modification|regulation of transcription from RNA polymerase II promoter	PML body	chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1)	37	Colorectal(54;0.0993)					GGTTCTGCCCGATGACTGGTA	0.587													18	31					0	0	1	0	0	A	19319035	G	A	19319035	2	1	81	1	0	0	0	0	0	0	0	1	7161	1048	37	1		1	HIRA	22	19319035	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	105174	19319035	31985531	14610	18226											
HIRA	7290	broad.mit.edu	37	22	19365463	19365463	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:19365463G>T	ENST00000263208.5	-	14	1798	c.1542C>A	c.(1540-1542)gcC>gcA	p.A514A	HIRA_ENST00000541063.1_Silent_p.A470A|HIRA_ENST00000340170.4_Silent_p.A514A|HIRA_ENST00000546308.1_Silent_p.A470A	NM_003325.3	NP_003316.3	P54198	HIRA_HUMAN	histone cell cycle regulator	514	Interaction with CCNA1.				chromatin modification|regulation of transcription from RNA polymerase II promoter	PML body	chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1)	37	Colorectal(54;0.0993)					AAGGCTTCGAGGCGCCGAAGG	0.597													8	103					0.27861	0.279815	1	1	0	T	19365463	G	T	19365463	2	4	81	1	0	0	0	0	0	0	0	1	7161	987	35	4		4	HIRA	22	19365463	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	46428	19365463	31939103	14611	18227											
HIRA	7290	broad.mit.edu	37	22	19381928	19381928	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:19381928G>A	ENST00000263208.5	-	8	1015	c.759C>T	c.(757-759)atC>atT	p.I253I	HIRA_ENST00000541063.1_Silent_p.I209I|HIRA_ENST00000340170.4_Silent_p.I253I|HIRA_ENST00000546308.1_Silent_p.I209I	NM_003325.3	NP_003316.3	P54198	HIRA_HUMAN	histone cell cycle regulator	253					chromatin modification|regulation of transcription from RNA polymerase II promoter	PML body	chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1)	37	Colorectal(54;0.0993)					CCTCCCGTTCGATGATCTGGG	0.572													5	50					0	0	1	0	0	A	19381928	G	A	19381928	2	1	81	1	0	0	0	0	0	0	0	1	7161	1048	37	1		1	HIRA	22	19381928	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	16465	19381928	31922638	14612	18228											
HIRA	7290	broad.mit.edu	37	22	19384429	19384429	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:19384429C>A	ENST00000263208.5	-	7	791	c.535G>T	c.(535-537)Ggg>Tgg	p.G179W	HIRA_ENST00000541063.1_Missense_Mutation_p.G135W|HIRA_ENST00000340170.4_Missense_Mutation_p.G179W|HIRA_ENST00000546308.1_Missense_Mutation_p.G135W	NM_003325.3	NP_003316.3	P54198	HIRA_HUMAN	histone cell cycle regulator	179					chromatin modification|regulation of transcription from RNA polymerase II promoter	PML body	chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1)	37	Colorectal(54;0.0993)					CATGTCAACCCTTTGACCAAG	0.488													7	49					5.18039e-06	5.88187e-06	1	1	0	A	19384429	C	A	19384429	3	1	81	1	0	0	0	0	1	0	0	0	7161	681	24	4	2594	4	HIRA	22	19384429	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2501	19384429	31920137	14613	18229											
HIRA	7290	broad.mit.edu	37	22	19385612	19385612	+	Splice_Site	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:19385612T>C	ENST00000263208.5	-	6	654		c.e6-2		HIRA_ENST00000541063.1_Splice_Site|HIRA_ENST00000464189.1_Splice_Site|HIRA_ENST00000340170.4_Splice_Site|HIRA_ENST00000546308.1_Splice_Site	NM_003325.3	NP_003316.3	P54198	HIRA_HUMAN	histone cell cycle regulator						chromatin modification|regulation of transcription from RNA polymerase II promoter	PML body	chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1)	37	Colorectal(54;0.0993)					CCATCACATCTGAAAGAAGAC	0.527													3	19					0	0	1	0	0	C	19385612	T	C	19385612	5	2	81	1	0	0	0	0	0	0	1	0	7161	1594	55	3	2737	3	HIRA	22	19385612	Splice_Site	SNP	T	TCGA-DU-6392-01A-11D-1705-08	1183	19385612	31918954	14614	18230											
MRPL40	64976	broad.mit.edu	37	22	19423208	19423208	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:19423208C>T	ENST00000333130.3	+	4	997	c.344C>T	c.(343-345)gCt>gTt	p.A115V	HIRA_ENST00000541063.1_Intron|MRPL40_ENST00000443660.1_3'UTR|HIRA_ENST00000546308.1_Intron	NM_003776.2	NP_003767.2	Q9NQ50	RM40_HUMAN	mitochondrial ribosomal protein L40	115					anatomical structure morphogenesis	mitochondrial ribosome|nucleus				endometrium(1)|upper_aerodigestive_tract(1)	2	Colorectal(54;0.0993)					GAGAGGAGAGCTCTGCTTCTG	0.532													27	273					0	0	1	0	0	T	19423208	C	T	19423208	3	4	81	1	0	0	0	0	1	0	0	0	9853	797	28	2	358	2	MRPL40	22	19423208	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	37596	19423208	31881358	14615	18231											
C22orf39	128977	broad.mit.edu	37	22	19431881	19431881	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:19431881G>A	ENST00000399562.4	-	3	768	c.336C>T	c.(334-336)gtC>gtT	p.V112V	HIRA_ENST00000541063.1_Intron|C22orf39_ENST00000333059.5_Silent_p.V75V|C22orf39_ENST00000542103.1_Intron|HIRA_ENST00000546308.1_Intron|C22orf39_ENST00000399568.1_Intron	NM_173793.4	NP_776154.3	Q6P5X5	CV039_HUMAN	chromosome 22 open reading frame 39													Colorectal(54;0.0993)					GTGCAGCCCGGACTCGTGCCC	0.627													15	11					0	0	1	0	0	A	19431881	G	A	19431881	2	1	81	1	0	0	0	0	0	0	0	1	2161	1161	41	2		2	C22orf39	22	19431881	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	8673	19431881	31872685	14616	18232											
CDC45	8318	broad.mit.edu	37	22	19470274	19470274	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:19470274C>A	ENST00000407835.1	+	5	522	c.266C>A	c.(265-267)cCt>cAt	p.P89H	CDC45_ENST00000437685.2_Missense_Mutation_p.P89H|CDC45_ENST00000404724.3_Intron|CDC45_ENST00000483431.1_3'UTR|CDC45_ENST00000263201.1_Missense_Mutation_p.P89H			O75419	CDC45_HUMAN	cell division cycle 45	89					DNA replication checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle	centrosome|nucleoplasm	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	19						ATTCTTCAACCTGATGAAGAC	0.363													20	161					1.01871e-10	1.25121e-10	1	1	0	A	19470274	C	A	19470274	3	1	81	1	0	0	0	0	1	0	0	0	3103	681	24	4	280	4	CDC45	22	19470274	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	38393	19470274	31834292	14617	18233											
CDC45	8318	broad.mit.edu	37	22	19483525	19483525	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:19483525C>T	ENST00000407835.1	+	8	820	c.564C>T	c.(562-564)taC>taT	p.Y188Y	CDC45_ENST00000437685.2_Silent_p.Y220Y|CDC45_ENST00000404724.3_Silent_p.Y142Y|CDC45_ENST00000263201.1_Silent_p.Y188Y			O75419	CDC45_HUMAN	cell division cycle 45	188					DNA replication checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle	centrosome|nucleoplasm	protein binding	p.Y188Y(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	19						TCTTTGACTACGAGCAGTATG	0.393													15	147					0	0	1	0	0	T	19483525	C	T	19483525	2	4	81	1	0	0	0	0	0	0	0	1	3103	547	19	1		1	CDC45	22	19483525	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	13251	19483525	31821041	14618	18234											
CDC45	8318	broad.mit.edu	37	22	19484966	19484966	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:19484966C>A	ENST00000407835.1	+	9	905	c.649C>A	c.(649-651)Ctg>Atg	p.L217M	CDC45_ENST00000437685.2_Missense_Mutation_p.L249M|CDC45_ENST00000404724.3_Missense_Mutation_p.L171M|CDC45_ENST00000263201.1_Missense_Mutation_p.L217M			O75419	CDC45_HUMAN	cell division cycle 45	217					DNA replication checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle	centrosome|nucleoplasm	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	19						GAATGACATGCTGTGGTACGT	0.547													40	51					3.78316e-11	4.67573e-11	1	1	0	A	19484966	C	A	19484966	3	1	81	1	0	0	0	0	1	0	0	0	3103	796	28	4	779	4	CDC45	22	19484966	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1441	19484966	31819600	14619	18235											
CDC45	8318	broad.mit.edu	37	22	19496191	19496191	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:19496191C>A	ENST00000407835.1	+	14	1450	c.1194C>A	c.(1192-1194)atC>atA	p.I398I	CDC45_ENST00000437685.2_Silent_p.I430I|CDC45_ENST00000404724.3_Silent_p.I352I|CDC45_ENST00000263201.1_Silent_p.I398I			O75419	CDC45_HUMAN	cell division cycle 45	398					DNA replication checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle	centrosome|nucleoplasm	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	19						ATCACTTCATCCAGGCTCTGG	0.582													4	21					0.000602214	0.000646338	1	1	0	A	19496191	C	A	19496191	2	1	81	1	0	0	0	0	0	0	0	1	3103	845	30	5		5	CDC45	22	19496191	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	11225	19496191	31808375	14620	18236											
CDC45	8318	broad.mit.edu	37	22	19502298	19502298	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:19502298G>A	ENST00000407835.1	+	15	1500	c.1244G>A	c.(1243-1245)gGc>gAc	p.G415D	CDC45_ENST00000437685.2_Missense_Mutation_p.G447D|CDC45_ENST00000404724.3_Missense_Mutation_p.G369D|CDC45_ENST00000263201.1_Missense_Mutation_p.G415D			O75419	CDC45_HUMAN	cell division cycle 45	415					DNA replication checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle	centrosome|nucleoplasm	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	19						CTGTACCATGGCCTGGAACTC	0.537													5	33					0	0	1	0	0	A	19502298	G	A	19502298	3	1	81	1	0	0	0	0	1	0	0	0	3103	1203	42	2	1398	2	CDC45	22	19502298	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	6107	19502298	31802268	14621	18237											
SEPT5	5413	broad.mit.edu	37	22	19709443	19709443	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:19709443G>A	ENST00000438754.2	+	9	1209	c.929G>A	c.(928-930)cGa>cAa	p.R310Q	SEPT5_ENST00000455784.2_Missense_Mutation_p.E305K|SEPT5_ENST00000383045.3_Missense_Mutation_p.E314K|SEPT5_ENST00000406395.1_Missense_Mutation_p.R301Q	NM_001009939.2	NP_001009939.1	Q99719	SEPT5_HUMAN	septin 5	0					cell cycle|cytokinesis|regulation of exocytosis|synaptic vesicle targeting	plasma membrane|septin complex|synaptic vesicle	GTP binding|GTPase activity|protein binding|structural molecule activity			lung(1)|upper_aerodigestive_tract(1)	2	Colorectal(54;0.0993)					CGTGCACTACGAGAACTACCG	0.632													15	25					0	0	1	0	0	A	19709443	G	A	19709443	3	1	81	1	0	0	0	0	1	0	0	0	14121	1059	37	1	951	1	SEPT5	22	19709443	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	207145	19709443	31595123	14622	18238											
TBX1	6899	broad.mit.edu	37	22	19751680	19751680	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:19751680A>G	ENST00000332710.4	+	5	644	c.515A>G	c.(514-516)tAc>tGc	p.Y172C	TBX1_ENST00000329705.7_Missense_Mutation_p.Y172C|TBX1_ENST00000359500.3_Missense_Mutation_p.Y172C	NM_080647.1	NP_542378.1	O43435	TBX1_HUMAN	T-box 1	172					embryonic viscerocranium morphogenesis|heart development|parathyroid gland development|pharyngeal system development|regulation of transcription from RNA polymerase II promoter|soft palate development|thymus development	nucleus	protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|lung(3)|ovary(2)	8	Colorectal(54;0.0993)	all_lung(157;3.05e-06)				CGCTCCAGGTACGCCTTCCAC	0.672													4	15					0	0	1	0	0	G	19751680	A	G	19751680	3	3	81	1	0	0	0	0	1	0	0	0	15710	391	14	3	529	3	TBX1	22	19751680	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	42237	19751680	31552886	14623	18239											
TBX1	6899	broad.mit.edu	37	22	19751790	19751790	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:19751790C>T	ENST00000332710.4	+	5	754	c.625C>T	c.(625-627)Caa>Taa	p.Q209*	TBX1_ENST00000329705.7_Nonsense_Mutation_p.Q209*|TBX1_ENST00000359500.3_Nonsense_Mutation_p.Q209*	NM_080647.1	NP_542378.1	O43435	TBX1_HUMAN	T-box 1	209					embryonic viscerocranium morphogenesis|heart development|parathyroid gland development|pharyngeal system development|regulation of transcription from RNA polymerase II promoter|soft palate development|thymus development	nucleus	protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|lung(3)|ovary(2)	8	Colorectal(54;0.0993)	all_lung(157;3.05e-06)				GTGGATGAAGCAAATCGTGTC	0.667													5	44					0	0	1	0	0	T	19751790	C	T	19751790	4	4	81	1	0	0	0	0	0	1	0	0	15710	711	25	2	639	2	TBX1	22	19751790	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	110	19751790	31552776	14624	18240											
TBX1	6899	broad.mit.edu	37	22	19752591	19752591	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:19752591C>T	ENST00000332710.4	+	6	924	c.795C>T	c.(793-795)ttC>ttT	p.F265F	TBX1_ENST00000329705.7_Silent_p.F265F|TBX1_ENST00000359500.3_Silent_p.F265F	NM_080647.1	NP_542378.1	O43435	TBX1_HUMAN	T-box 1	265					embryonic viscerocranium morphogenesis|heart development|parathyroid gland development|pharyngeal system development|regulation of transcription from RNA polymerase II promoter|soft palate development|thymus development	nucleus	protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|lung(3)|ovary(2)	8	Colorectal(54;0.0993)	all_lung(157;3.05e-06)				CCTTTGTGTTCGAGGAGACAC	0.557													30	45					0	0	1	0	0	T	19752591	C	T	19752591	2	4	81	1	0	0	0	0	0	0	0	1	15710	883	31	1		1	TBX1	22	19752591	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	801	19752591	31551975	14625	18241											
C22orf29	79680	broad.mit.edu	37	22	19839537	19839537	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:19839537G>T	ENST00000405640.1	-	2	916	c.248C>A	c.(247-249)gCt>gAt	p.A83D	C22orf29_ENST00000407472.1_Missense_Mutation_p.A83D|C22orf29_ENST00000328554.4_Missense_Mutation_p.A83D|GNB1L_ENST00000329517.6_Intron|GNB1L_ENST00000460402.1_Intron|C22orf29_ENST00000484072.1_Intron|GNB1L_ENST00000405009.1_Intron|GNB1L_ENST00000403325.1_Intron			Q7L3V2	CV029_HUMAN	chromosome 22 open reading frame 29	83										NS(1)|large_intestine(1)|lung(3)|prostate(1)|urinary_tract(1)	7	Colorectal(54;0.0993)					CATGTGCCCAGCTAGGGGACC	0.632													6	60					2.7689e-08	3.2887e-08	1	1	0	T	19839537	G	T	19839537	3	4	81	1	0	0	0	0	1	0	0	0	2155	971	34	4	850	4	C22orf29	22	19839537	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	86946	19839537	31465029	14626	18242											
TXNRD2	10587	broad.mit.edu	37	22	19882975	19882975	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:19882975C>T	ENST00000400519.1	-	11	900	c.901G>A	c.(901-903)Ggc>Agc	p.G301S	TXNRD2_ENST00000542719.1_Missense_Mutation_p.G272S|TXNRD2_ENST00000535882.1_Missense_Mutation_p.G301S|TXNRD2_ENST00000334363.9_Missense_Mutation_p.G302S|TXNRD2_ENST00000491939.1_5'UTR|TXNRD2_ENST00000400518.1_Missense_Mutation_p.G272S|TXNRD2_ENST00000400521.1_Missense_Mutation_p.G302S			Q9NNW7	TRXR2_HUMAN	thioredoxin reductase 2	302					cell redox homeostasis|response to oxygen radical	mitochondrion	flavin adenine dinucleotide binding|NADP binding|thioredoxin-disulfide reductase activity			breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|urinary_tract(2)	30	Colorectal(54;0.0993)					TCCTCCTTGCCGGTGGTGCTG	0.662													44	93					0	0	1	0	0	T	19882975	C	T	19882975	3	4	81	1	0	0	0	0	1	0	0	0	16870	652	23	1	698	1	TXNRD2	22	19882975	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	43438	19882975	31421591	14627	18243											
TXNRD2	10587	broad.mit.edu	37	22	19919881	19919881	+	Splice_Site	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:19919881T>C	ENST00000400518.1	-	1	195	c.12A>G	c.(10-12)caA>caG	p.Q4Q	TXNRD2_ENST00000542719.1_Splice_Site_p.Q4Q|TXNRD2_ENST00000400519.1_Intron|TXNRD2_ENST00000535882.1_Intron|TXNRD2_ENST00000334363.9_Intron|TXNRD2_ENST00000491939.1_Intron|TXNRD2_ENST00000400521.1_Intron			Q9NNW7	TRXR2_HUMAN	thioredoxin reductase 2	0					cell redox homeostasis|response to oxygen radical	mitochondrion	flavin adenine dinucleotide binding|NADP binding|thioredoxin-disulfide reductase activity			breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|urinary_tract(2)	30	Colorectal(54;0.0993)					TCGCCTCACCTTGGTCCTCCA	0.567													7	110					0	0	1	0	0	C	19919881	T	C	19919881	5	2	81	1	0	0	0	0	0	0	1	0	16870	1624	56	3		3	TXNRD2	22	19919881	Splice_Site	SNP	T	TCGA-DU-6392-01A-11D-1705-08	36906	19919881	31384685	14628	18244											
ARVCF	421	broad.mit.edu	37	22	19960456	19960456	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:19960456G>A	ENST00000263207.3	-	15	2833	c.2542C>T	c.(2542-2544)Cgc>Tgc	p.R848C	ARVCF_ENST00000406522.1_Missense_Mutation_p.R779C|ARVCF_ENST00000401994.1_Missense_Mutation_p.R785C|ARVCF_ENST00000344269.3_Missense_Mutation_p.R785C|ARVCF_ENST00000406259.1_Missense_Mutation_p.R842C	NM_001670.2	NP_001661.1	O00192	ARVC_HUMAN	armadillo repeat gene deleted in velocardiofacial syndrome	848					cell adhesion|multicellular organismal development		protein binding			NS(1)|cervix(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|urinary_tract(2)	13	Colorectal(54;0.0993)					ACCTGGAAGCGCGCCTTGGTC	0.567													14	95					0	0	1	0	0	A	19960456	G	A	19960456	3	1	81	1	0	0	0	0	1	0	0	0	1002	1087	38	1	366	1	ARVCF	22	19960456	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	40575	19960456	31344110	14629	18245											
ARVCF	421	broad.mit.edu	37	22	19963209	19963209	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:19963209C>A	ENST00000263207.3	-	11	2251	c.1960G>T	c.(1960-1962)Ggc>Tgc	p.G654C	ARVCF_ENST00000406522.1_Splice_Site_p.G585C|ARVCF_ENST00000401994.1_Splice_Site_p.G591C|ARVCF_ENST00000344269.3_Splice_Site_p.G591C|ARVCF_ENST00000406259.1_Splice_Site_p.G648C	NM_001670.2	NP_001661.1	O00192	ARVC_HUMAN	armadillo repeat gene deleted in velocardiofacial syndrome	654					cell adhesion|multicellular organismal development		protein binding			NS(1)|cervix(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|urinary_tract(2)	13	Colorectal(54;0.0993)					GCCCACTCACCTTTGGCGGCC	0.587													4	35					0.00909568	0.00944708	1	1	0	A	19963209	C	A	19963209	5	1	81	1	0	0	0	0	0	0	1	0	1002	695	24	4	964	4	ARVCF	22	19963209	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2753	19963209	31341357	14630	18246											
DGCR8	54487	broad.mit.edu	37	22	20073770	20073770	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:20073770G>T	ENST00000351989.3	+	2	713	c.284G>T	c.(283-285)aGc>aTc	p.S95I	DGCR8_ENST00000383024.2_Missense_Mutation_p.S95I|DGCR8_ENST00000407755.1_Missense_Mutation_p.S95I	NM_022720.6	NP_073557.3	Q8WYQ5	DGCR8_HUMAN	DGCR8 microprocessor complex subunit	95	Necessary for interaction with NCL.|Necessary for nuclear localization and retention.				primary miRNA processing	cytoplasm|microtubule cytoskeleton|nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding			NS(2)|breast(1)|endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	Colorectal(54;0.0993)					AGTGGCCACAGCCCGCGCACC	0.572													11	37					0.00010058	0.000110448	1	1	0	T	20073770	G	T	20073770	3	4	81	1	0	0	0	0	1	0	0	0	4492	971	34	4	286	4	DGCR8	22	20073770	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	110561	20073770	31230796	14631	18247											
DGCR8	54487	broad.mit.edu	37	22	20079041	20079041	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:20079041C>T	ENST00000351989.3	+	6	1819	c.1390C>T	c.(1390-1392)Cgg>Tgg	p.R464W	DGCR8_ENST00000383024.2_Missense_Mutation_p.R464W|DGCR8_ENST00000407755.1_Missense_Mutation_p.R464W	NM_022720.6	NP_073557.3	Q8WYQ5	DGCR8_HUMAN	DGCR8 microprocessor complex subunit	464	Necessary for heme-binding and pri-miRNA processing.				primary miRNA processing	cytoplasm|microtubule cytoskeleton|nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding			NS(2)|breast(1)|endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	Colorectal(54;0.0993)					TTGGGCTGAGCGGCGGCAATT	0.488													72	132					0	0	1	0	0	T	20079041	C	T	20079041	3	4	81	1	0	0	0	0	1	0	0	0	4492	759	27	1	1408	1	DGCR8	22	20079041	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	5271	20079041	31225525	14632	18248											
TRMT2A	27037	broad.mit.edu	37	22	20100486	20100486	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:20100486G>A	ENST00000252136.7	-	11	1982	c.1594C>T	c.(1594-1596)Cgg>Tgg	p.R532W	TRMT2A_ENST00000404751.3_Missense_Mutation_p.R532W|TRMT2A_ENST00000403707.3_Missense_Mutation_p.R532W|TRMT2A_ENST00000439169.2_Missense_Mutation_p.R550W	NM_001257994.1|NM_022727.5|NM_182984.4	NP_001244923.1|NP_073564.3|NP_892029.2	Q8IZ69	TRM2A_HUMAN	tRNA methyltransferase 2 homolog A (S. cerevisiae)	532					RNA processing		nucleotide binding|RNA binding|RNA methyltransferase activity			breast(2)|endometrium(2)|lung(5)	9						TACAGCAGCCGCCTGAGGTTC	0.607													26	36					0	0	1	0	0	A	20100486	G	A	20100486	3	1	81	1	0	0	0	0	1	0	0	0	16626	1086	38	1	291	1	TRMT2A	22	20100486	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	21445	20100486	31204080	14633	18249											
TRMT2A	27037	broad.mit.edu	37	22	20103712	20103712	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:20103712G>A	ENST00000252136.7	-	2	836	c.448C>T	c.(448-450)Ccc>Tcc	p.P150S	RANBP1_ENST00000430524.1_5'UTR|TRMT2A_ENST00000404751.3_Missense_Mutation_p.P150S|TRMT2A_ENST00000403707.3_Missense_Mutation_p.P150S|TRMT2A_ENST00000439169.2_Missense_Mutation_p.P150S	NM_001257994.1|NM_022727.5|NM_182984.4	NP_001244923.1|NP_073564.3|NP_892029.2	Q8IZ69	TRM2A_HUMAN	tRNA methyltransferase 2 homolog A (S. cerevisiae)	150					RNA processing		nucleotide binding|RNA binding|RNA methyltransferase activity			breast(2)|endometrium(2)|lung(5)	9						CTGGCCATGGGGTCGGCCTTG	0.662													12	27					0	0	1	0	0	A	20103712	G	A	20103712	3	1	81	1	0	0	0	0	1	0	0	0	16626	1232	43	2	1473	2	TRMT2A	22	20103712	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	3226	20103712	31200854	14634	18250											
RANBP1	5902	broad.mit.edu	37	22	20109792	20109792	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:20109792C>T	ENST00000402752.1	+	3	384	c.158C>T	c.(157-159)gCa>gTa	p.A53V	RANBP1_ENST00000430524.1_5'UTR|RANBP1_ENST00000331821.3_Missense_Mutation_p.A53V	NM_001278640.1	NP_001265569.1	P43487	RANG_HUMAN	RAN binding protein 1	53	RanBD1.				intracellular transport|signal transduction|viral reproduction	nuclear envelope	GDP-dissociation inhibitor activity|GTPase activator activity|Ran GTPase binding			breast(1)|large_intestine(1)|lung(1)|ovary(1)	4	Colorectal(54;0.0993)					TGCAGGCGGGCAAAACTGTTC	0.577													10	22					0	0	1	0	0	T	20109792	C	T	20109792	3	4	81	1	0	0	0	0	1	0	0	0	13077	710	25	2	168	2	RANBP1	22	20109792	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	6080	20109792	31194774	14635	18251											
ZNF74	7625	broad.mit.edu	37	22	20760798	20760798	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:20760798G>A	ENST00000400451.2	+	5	1989	c.1475G>A	c.(1474-1476)cGc>cAc	p.R492H	ZNF74_ENST00000405993.1_Missense_Mutation_p.R460H|ZNF74_ENST00000356671.5_Missense_Mutation_p.R492H|ZNF74_ENST00000403682.3_3'UTR|ZNF74_ENST00000357502.5_3'UTR	NM_003426.3	NP_003417.2	Q16587	ZNF74_HUMAN	zinc finger protein 74	492					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	actin cytoskeleton|nucleus	DNA binding|RNA binding|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19	Melanoma(16;0.000465)|Ovarian(15;0.0025)|Colorectal(54;0.0221)|all_neural(72;0.219)	Lung SC(17;0.0262)|all_lung(157;0.248)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			GTGCACCGGCGCATCCACACA	0.637													24	36					0	0	1	0	0	A	20760798	G	A	20760798	3	1	81	1	0	0	0	0	1	0	0	0	18177	1087	38	1	1493	1	ZNF74	22	20760798	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	651006	20760798	30543768	14636	18252											
KLHL22	84861	broad.mit.edu	37	22	20796502	20796502	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:20796502G>A	ENST00000328879.4	-	7	1919	c.1763C>T	c.(1762-1764)gCc>gTc	p.A588V	KLHL22_ENST00000440659.2_Missense_Mutation_p.A445V	NM_032775.3	NP_116164.2	Q53GT1	KLH22_HUMAN	kelch-like family member 22	588					cell division	Cul3-RING ubiquitin ligase complex				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	20	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			GAGCACACAGGCCGCCAGGCC	0.667													8	22					0	0	1	0	0	A	20796502	G	A	20796502	3	1	81	1	0	0	0	0	1	0	0	0	8420	1203	42	2	145	2	KLHL22	22	20796502	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	35704	20796502	30508064	14637	18253											
MED15	51586	broad.mit.edu	37	22	20909246	20909246	+	Missense_Mutation	SNP	C	C	A	rs145726043		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:20909246C>A	ENST00000263205.7	+	5	331	c.262C>A	c.(262-264)Ctg>Atg	p.L88M	MED15_ENST00000382974.2_Intron|MED15_ENST00000542773.1_Intron|MED15_ENST00000292733.7_Missense_Mutation_p.L88M|MED15_ENST00000406969.1_Missense_Mutation_p.L62M|MED15_ENST00000541476.1_Missense_Mutation_p.L62M|MED15_ENST00000425759.2_Intron	NM_001003891.1	NP_001003891.1	Q96RN5	MED15_HUMAN	mediator complex subunit 15	88					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|mediator complex	protein binding			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)			ACTCCAGAGCCTGACTGGCGG	0.617													5	58					3.59834e-05	3.99423e-05	1	1	0	A	20909246	C	A	20909246	3	1	81	1	0	0	0	0	1	0	0	0	9483	680	24	4	280	4	MED15	22	20909246	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	112744	20909246	30395320	14638	18254											
PI4KA	5297	broad.mit.edu	37	22	21075617	21075617	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:21075617A>C	ENST00000255882.6	-	43	5171	c.5085T>G	c.(5083-5085)atT>atG	p.I1695M	PI4KA_ENST00000414196.3_Missense_Mutation_p.I447M|PI4KA_ENST00000572273.1_Missense_Mutation_p.I1637M	NM_058004.3	NP_477352.3	P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	1637	Pleckstrin homology (PH) domain conferring phosphoinositide binding specificity (By similarity).				phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			CATCTAGATAAATGTTAGTCT	0.502													36	57					0	0	1	0	0	C	21075617	A	C	21075617	3	2	81	1	0	0	0	0	1	0	0	0	11921	10	1	5	1275	5	PI4KA	22	21075617	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	166371	21075617	30228949	14639	18255											
PI4KA	5297	broad.mit.edu	37	22	21083711	21083711	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:21083711G>A	ENST00000255882.6	-	39	4658	c.4572C>T	c.(4570-4572)agC>agT	p.S1524S	PI4KA_ENST00000414196.3_Silent_p.S276S|PI4KA_ENST00000572273.1_Silent_p.S1466S	NM_058004.3	NP_477352.3	P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	1466					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			AGTTGGCCACGCTGTTCTCTC	0.562													8	13					0	0	1	0	0	A	21083711	G	A	21083711	2	1	81	1	0	0	0	0	0	0	0	1	11921	1078	38	1		1	PI4KA	22	21083711	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	8094	21083711	30220855	14640	18256											
PI4KA	5297	broad.mit.edu	37	22	21104213	21104213	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:21104213C>T	ENST00000255882.6	-	28	3309	c.3223G>A	c.(3223-3225)Gtc>Atc	p.V1075I	PI4KA_ENST00000572273.1_Missense_Mutation_p.V1017I	NM_058004.3	NP_477352.3	P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	1017					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			GACTTGGTGACGGTAGGTGCC	0.498													11	20					0	0	1	0	0	T	21104213	C	T	21104213	3	4	81	1	0	0	0	0	1	0	0	0	11921	536	19	1	3197	1	PI4KA	22	21104213	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	20502	21104213	30200353	14641	18257											
PI4KA	5297	broad.mit.edu	37	22	21107203	21107203	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:21107203C>A	ENST00000255882.6	-	25	3061	c.2975G>T	c.(2974-2976)gGt>gTt	p.G992V	PI4KA_ENST00000572273.1_Missense_Mutation_p.G934V	NM_058004.3	NP_477352.3	P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	934					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			ATCCACCAGACCAGATAGATA	0.423													85	136					2.16659e-41	2.9102e-41	1	1	0	A	21107203	C	A	21107203	3	1	81	1	0	0	0	0	1	0	0	0	11921	507	18	5	3457	5	PI4KA	22	21107203	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2990	21107203	30197363	14642	18258											
SERPIND1	3053	broad.mit.edu	37	22	21140425	21140425	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:21140425G>A	ENST00000215727.5	+	4	1580	c.1297G>A	c.(1297-1299)Gcc>Acc	p.A433T	SERPIND1_ENST00000406799.1_Missense_Mutation_p.A433T|PI4KA_ENST00000572273.1_Intron|PI4KA_ENST00000466162.1_Intron|PI4KA_ENST00000255882.6_Intron	NM_000185.3	NP_000176.2	P05546	HEP2_HUMAN	serpin peptidase inhibitor, clade D (heparin cofactor), member 1	433					blood coagulation|chemotaxis|regulation of proteolysis	extracellular region	heparin binding|serine-type endopeptidase inhibitor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(11;6.16e-25)|all_epithelial(7;1.02e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)		Ardeparin(DB00407)	CCAAAGGATCGCCATCGACCT	0.572													33	70					0	0	1	0	0	A	21140425	G	A	21140425	3	1	81	1	0	0	0	0	1	0	0	0	14164	1087	38	1	1307	1	SERPIND1	22	21140425	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	33222	21140425	30164141	14643	18259											
SNAP29	9342	broad.mit.edu	37	22	21237800	21237800	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:21237800G>A	ENST00000215730.7	+	4	690	c.562G>A	c.(562-564)Gct>Act	p.A188T		NM_004782.3	NP_004773.1	O95721	SNP29_HUMAN	synaptosomal-associated protein, 29kDa						cellular membrane fusion|exocytosis|protein transport|vesicle targeting	cell junction|cytoplasm|nucleus|synapse|synaptosome	SNAP receptor activity			breast(1)|endometrium(1)|large_intestine(5)|lung(1)|upper_aerodigestive_tract(1)	9	all_cancers(11;2.77e-25)|all_epithelial(7;8.92e-24)|Lung NSC(8;1.49e-15)|all_lung(8;2.54e-14)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000592)|Lung(15;0.0117)			GAGTACTGATGCTTACCCAAA	0.498													53	102					0	0	1	0	0	A	21237800	G	A	21237800	3	1	81	1	0	0	0	0	1	0	0	0	14885	1319	46	2	576	2	SNAP29	22	21237800	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	97375	21237800	30066766	14644	18260											
CRKL	1399	broad.mit.edu	37	22	21288371	21288371	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:21288371G>A	ENST00000354336.3	+	2	1125	c.616G>A	c.(616-618)Gca>Aca	p.A206T		NM_005207.3	NP_005198.1	P46109	CRKL_HUMAN	v-crk avian sarcoma virus CT10 oncogene homolog-like	206					JNK cascade|Ras protein signal transduction	cytosol	protein tyrosine kinase activity|SH3/SH2 adaptor activity|signal transducer activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)	14	all_cancers(11;1.16e-25)|all_epithelial(7;3.37e-24)|Lung NSC(8;7.25e-16)|all_lung(8;1.37e-14)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.176)			ACCTGCTCATGCATACGCTCA	0.502													40	50					0	0	1	0	0	A	21288371	G	A	21288371	3	1	81	1	0	0	0	0	1	0	0	0	3908	1319	46	2	622	2	CRKL	22	21288371	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	50571	21288371	30016195	14645	18261											
CRKL	1399	broad.mit.edu	37	22	21304088	21304088	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:21304088G>A	ENST00000354336.3	+	3	1376	c.867G>A	c.(865-867)acG>acA	p.T289T		NM_005207.3	NP_005198.1	P46109	CRKL_HUMAN	v-crk avian sarcoma virus CT10 oncogene homolog-like	289	SH3 2.				JNK cascade|Ras protein signal transduction	cytosol	protein tyrosine kinase activity|SH3/SH2 adaptor activity|signal transducer activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)	14	all_cancers(11;1.16e-25)|all_epithelial(7;3.37e-24)|Lung NSC(8;7.25e-16)|all_lung(8;1.37e-14)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.176)			TCCCCTTTACGCACGTCAAAA	0.478													11	224					0	0	1	0	0	A	21304088	G	A	21304088	2	1	81	1	0	0	0	0	0	0	0	1	3908	1074	38	1		1	CRKL	22	21304088	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	15717	21304088	30000478	14646	18262											
AIFM3	150209	broad.mit.edu	37	22	21328398	21328398	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:21328398C>A	ENST00000399167.2	+	5	642	c.402C>A	c.(400-402)tgC>tgA	p.C134*	AIFM3_ENST00000440238.2_Nonsense_Mutation_p.C134*|AIFM3_ENST00000399163.2_Nonsense_Mutation_p.C134*|AIFM3_ENST00000333607.6_Nonsense_Mutation_p.C134*|AIFM3_ENST00000335375.5_Nonsense_Mutation_p.C122*|AIFM3_ENST00000405089.1_Nonsense_Mutation_p.C140*	NM_144704.2	NP_653305.1			apoptosis-inducing factor, mitochondrion-associated, 3											breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	21	all_cancers(11;3.71e-26)|all_epithelial(7;1.59e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0367)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			ACGGCGCCTGCTTCAACATCA	0.662													10	12					0.000673444	0.000721718	1	1	0	A	21328398	C	A	21328398	4	1	81	1	0	0	0	0	0	1	0	0	425	805	28	4	434	4	AIFM3	22	21328398	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	24310	21328398	29976168	14647	18263											
LZTR1	8216	broad.mit.edu	37	22	21343119	21343119	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:21343119G>T	ENST00000215739.8	+	6	910	c.551G>T	c.(550-552)aGt>aTt	p.S184I	LZTR1_ENST00000389355.3_Missense_Mutation_p.S165I|LZTR1_ENST00000479606.1_3'UTR	NM_006767.3	NP_006758.2	Q8N653	LZTR1_HUMAN	leucine-zipper-like transcription regulator 1	184					anatomical structure morphogenesis		sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			ACGGTGTACAGTGACAAGCTG	0.652													22	60					3.73808e-20	4.87716e-20	1	1	0	T	21343119	G	T	21343119	3	4	81	1	0	0	0	0	1	0	0	0	9183	1029	36	4	573	4	LZTR1	22	21343119	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	14721	21343119	29961447	14648	18264											
SLC7A4	6545	broad.mit.edu	37	22	21384352	21384352	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:21384352C>T	ENST00000382932.2	-	3	1338	c.1271G>A	c.(1270-1272)gGc>gAc	p.G424D	SLC7A4_ENST00000403586.1_Missense_Mutation_p.G424D	NM_004173.2	NP_004164.2	O43246	CTR4_HUMAN	solute carrier family 7, member 4	424					cellular amino acid metabolic process	integral to membrane	basic amino acid transmembrane transporter activity			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(2)	18	all_cancers(11;2.85e-22)|Lung NSC(8;4.21e-14)|all_lung(8;6.08e-13)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0968)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	GCTGGCTGGGCCTGGGGAGCT	0.632													6	7					0	0	1	0	0	T	21384352	C	T	21384352	3	4	81	1	0	0	0	0	1	0	0	0	14754	739	26	2	648	2	SLC7A4	22	21384352	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	41233	21384352	29920214	14649	18265											
SLC7A4	6545	broad.mit.edu	37	22	21385780	21385780	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:21385780C>T	ENST00000382932.2	-	2	389	c.322G>A	c.(322-324)Gta>Ata	p.V108I	SLC7A4_ENST00000403586.1_Missense_Mutation_p.V108I|AC002472.11_ENST00000450652.1_RNA	NM_004173.2	NP_004164.2	O43246	CTR4_HUMAN	solute carrier family 7, member 4	108					cellular amino acid metabolic process	integral to membrane	basic amino acid transmembrane transporter activity			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(2)	18	all_cancers(11;2.85e-22)|Lung NSC(8;4.21e-14)|all_lung(8;6.08e-13)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0968)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	CCCATGGATACGTAGGTGAAC	0.627													11	20					0	0	1	0	0	T	21385780	C	T	21385780	3	4	81	1	0	0	0	0	1	0	0	0	14754	536	19	1	1601	1	SLC7A4	22	21385780	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1428	21385780	29918786	14650	18266											
CCDC116	164592	broad.mit.edu	37	22	21988347	21988347	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:21988347C>T	ENST00000292779.3	+	3	270	c.109C>T	c.(109-111)Cgg>Tgg	p.R37W	CCDC116_ENST00000607942.1_Missense_Mutation_p.R37W	NM_152612.2	NP_689825.2	Q8IYX3	CC116_HUMAN	coiled-coil domain containing 116	37										endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(5)	22	Colorectal(54;0.105)					CCCAGAAATGCGGCCAGCCTG	0.632													18	35					0	0	1	0	0	T	21988347	C	T	21988347	3	4	81	1	0	0	0	0	1	0	0	0	2771	759	27	1	115	1	CCDC116	22	21988347	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	602567	21988347	29316219	14651	18267											
CCDC116	164592	broad.mit.edu	37	22	21988801	21988801	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:21988801G>T	ENST00000292779.3	+	3	724	c.563G>T	c.(562-564)aGg>aTg	p.R188M	CCDC116_ENST00000607942.1_Missense_Mutation_p.R188M	NM_152612.2	NP_689825.2	Q8IYX3	CC116_HUMAN	coiled-coil domain containing 116	188										endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(5)	22	Colorectal(54;0.105)					CCACCTGTGAGGGACAAACTC	0.627													6	44					3.59834e-05	3.99423e-05	1	1	0	T	21988801	G	T	21988801	3	4	81	1	0	0	0	0	1	0	0	0	2771	1000	35	4	569	4	CCDC116	22	21988801	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	454	21988801	29315765	14652	18268											
PPIL2	23759	broad.mit.edu	37	22	22039067	22039067	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:22039067G>A	ENST00000335025.8	+	10	670	c.579G>A	c.(577-579)ccG>ccA	p.P193P	PPIL2_ENST00000398831.3_Silent_p.P193P|PPIL2_ENST00000492445.2_Silent_p.P193P|PPIL2_ENST00000456792.2_Silent_p.P172P|PPIL2_ENST00000406385.1_Silent_p.P193P|PPIL2_ENST00000412327.1_Silent_p.P193P			Q13356	PPIL2_HUMAN	peptidylprolyl isomerase (cyclophilin)-like 2						blood coagulation|leukocyte migration|protein folding|protein polyubiquitination	Golgi lumen|nucleus|ubiquitin ligase complex	peptidyl-prolyl cis-trans isomerase activity|ubiquitin-ubiquitin ligase activity	p.P193P(1)		endometrium(4)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	17	Colorectal(54;0.105)					AACAGGACCCGTCTTATTATC	0.547													11	26					0	0	1	0	0	A	22039067	G	A	22039067	2	1	81	1	0	0	0	0	0	0	0	1	12376	1132	40	1		1	PPIL2	22	22039067	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	50266	22039067	29265499	14653	18269											
MAPK1	5594	broad.mit.edu	37	22	22143097	22143097	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:22143097C>T	ENST00000215832.6	-	5	798	c.610G>A	c.(610-612)Ggc>Agc	p.G204S	MAPK1_ENST00000544786.1_Splice_Site_p.G204S|MAPK1_ENST00000398822.3_Splice_Site_p.G204S	NM_002745.4	NP_002736.3	P28482	MK01_HUMAN	mitogen-activated protein kinase 1	204	Protein kinase.				activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle|epidermal growth factor receptor signaling pathway|ERK1 and ERK2 cascade|induction of apoptosis|innate immune response|insulin receptor signaling pathway|interspecies interaction between organisms|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|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, DNA-dependent	cytosol|nucleoplasm	ATP binding|DNA binding|MAP kinase activity|phosphatase binding|RNA polymerase II carboxy-terminal domain kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Colorectal(54;0.105)	all_lung(157;3.89e-05)		READ - Rectum adenocarcinoma(21;0.0689)	Arsenic trioxide(DB01169)	TTGGTGTAGCCCTGCAGGAGA	0.453													18	16					0	0	1	0	0	T	22143097	C	T	22143097	5	4	81	1	0	0	0	0	0	0	1	0	9321	637	22	2	488	2	MAPK1	22	22143097	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	104030	22143097	29161469	14654	18270											
PPM1F	9647	broad.mit.edu	37	22	22277493	22277493	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:22277493G>T	ENST00000407142.1	-	6	1893	c.833C>A	c.(832-834)cCt>cAt	p.P278H	PPM1F_ENST00000263212.5_Missense_Mutation_p.P446H|PPM1F_ENST00000538191.1_Missense_Mutation_p.P342H			P49593	PPM1F_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1F	446					apoptosis|protein dephosphorylation	protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	12	Colorectal(54;0.105)			READ - Rectum adenocarcinoma(21;0.155)		CTGGGTCTCAGGTTCTGGAAG	0.642													5	116					1	1	1	1	0	T	22277493	G	T	22277493	3	4	81	1	0	0	0	0	1	0	0	0	12388	1000	35	4	31	4	PPM1F	22	22277493	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	134396	22277493	29027073	14655	18271											
ZNF280B	140883	broad.mit.edu	37	22	22842384	22842384	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:22842384T>C	ENST00000360412.2	-	4	2115	c.1340A>G	c.(1339-1341)tAc>tGc	p.Y447C	ZNF280B_ENST00000406426.1_Missense_Mutation_p.Y447C	NM_080764.2	NP_542942.1	Q86YH2	Z280B_HUMAN	zinc finger protein 280B	447					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(2)	22	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		ATGACACATGTATGGTGTTGC	0.413													52	75					0	0	1	0	0	C	22842384	T	C	22842384	3	2	81	1	0	0	0	0	1	0	0	0	17873	1638	57	3	295	3	ZNF280B	22	22842384	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	564891	22842384	28462182	14656	18272											
ZNF280A	129025	broad.mit.edu	37	22	22868777	22868777	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:22868777G>T	ENST00000302097.3	-	2	1430	c.1178C>A	c.(1177-1179)cCc>cAc	p.P393H		NM_080740.3	NP_542778.1	P59817	Z280A_HUMAN	zinc finger protein 280A	393					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	18	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		GCACACGTAGGGCATTTCGCC	0.443													30	69					9.04072e-19	1.17483e-18	1	1	0	T	22868777	G	T	22868777	3	4	81	1	0	0	0	0	1	0	0	0	17872	1232	43	5	454	5	ZNF280A	22	22868777	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	26393	22868777	28435789	14657	18273											
GNAZ	2781	broad.mit.edu	37	22	23465441	23465441	+	Silent	SNP	C	C	T	rs146853897	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:23465441C>T	ENST00000248996.4	+	3	1557	c.891C>T	c.(889-891)taC>taT	p.Y297Y	RTDR1_ENST00000216036.4_Intron	NM_002073.2	NP_002064.1	P19086	GNAZ_HUMAN	guanine nucleotide binding protein (G protein), alpha z polypeptide	297						endoplasmic reticulum|heterotrimeric G-protein complex|nuclear envelope	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|metabotropic serotonin receptor binding|receptor signaling protein activity			endometrium(3)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(5)|urinary_tract(1)	19	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.166)		AGAACACGTACGAGGAGGCCG	0.572													13	26					0	0	1	0	0	T	23465441	C	T	23465441	2	4	81	1	0	0	0	0	0	0	0	1	6556	547	19	1		1	GNAZ	22	23465441	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	596664	23465441	27839125	14658	18274											
RAB36	9609	broad.mit.edu	37	22	23487629	23487629	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:23487629C>T	ENST00000263116.2	+	1	117	c.77C>T	c.(76-78)aCg>aTg	p.T26M	RAB36_ENST00000341989.4_Missense_Mutation_p.T26M	NM_004914.2	NP_004905.2	O95755	RAB36_HUMAN	RAB36, member RAS oncogene family	26					protein transport|small GTPase mediated signal transduction	Golgi membrane	GTP binding	p.T26K(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.155)		ACGACGTCGACGATTCGTGTA	0.677													19	41					0	0	1	0	0	T	23487629	C	T	23487629	3	4	81	1	0	0	0	0	1	0	0	0	12978	536	19	1	79	1	RAB36	22	23487629	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	22188	23487629	27816937	14659	18275											
BCR	613	broad.mit.edu	37	22	23596045	23596045	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:23596045C>T	ENST00000305877.8	+	2	2090	c.1339C>T	c.(1339-1341)Cgc>Tgc	p.R447C	BCR_ENST00000359540.3_Missense_Mutation_p.R447C	NM_004327.3	NP_004318.3	P11274	BCR_HUMAN	breakpoint cluster region	447					regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	ATP binding|GTPase activator activity|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity		BCR/JAK2(6)	central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	35						AGAGGAGCAGCGCCGGCACCA	0.627			T	"ABL1,  FGFR1, JAK2 "	"CML, ALL, AML"								23	34					0	0	1	0	0	T	23596045	C	T	23596045	3	4	81	1	0	0	0	0	1	0	0	0	1386	768	27	1	1345	1	BCR	22	23596045	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	108416	23596045	27708521	14660	18276											
BCR	613	broad.mit.edu	37	22	23603637	23603637	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:23603637C>T	ENST00000305877.8	+	4	2413	c.1662C>T	c.(1660-1662)taC>taT	p.Y554Y	BCR_ENST00000359540.3_Silent_p.Y554Y	NM_004327.3	NP_004318.3	P11274	BCR_HUMAN	breakpoint cluster region	554	DH.				regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	ATP binding|GTPase activator activity|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity		BCR/JAK2(6)	central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	35						CTGAGCTCTACGAGATCCACA	0.587			T	"ABL1,  FGFR1, JAK2 "	"CML, ALL, AML"								33	42					0	0	1	0	0	T	23603637	C	T	23603637	2	4	81	1	0	0	0	0	0	0	0	1	1386	547	19	1		1	BCR	22	23603637	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	7592	23603637	27700929	14661	18277											
ZNF70	7621	broad.mit.edu	37	22	24086151	24086151	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:24086151T>C	ENST00000341976.3	-	2	1637	c.1177A>G	c.(1177-1179)Acc>Gcc	p.T393A		NM_021916.2	NP_068735.1	Q9UC06	ZNF70_HUMAN	zinc finger protein 70	393						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1)	21						CACTCGCAGGTGTAGGGCTTC	0.577													7	86					0	0	1	0	0	C	24086151	T	C	24086151	3	2	81	1	0	0	0	0	1	0	0	0	18159	1696	59	3	167	3	ZNF70	22	24086151	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	482514	24086151	27218415	14662	18278											
MMP11	4320	broad.mit.edu	37	22	24122551	24122551	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:24122551T>G	ENST00000215743.3	+	3	396	c.344T>G	c.(343-345)cTt>cGt	p.L115R	MMP11_ENST00000477567.1_3'UTR	NM_005940.3	NP_005931.2	P24347	MMP11_HUMAN	matrix metallopeptidase 11 (stromelysin 3)	115					collagen catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	27		Medulloblastoma(6;9.86e-08)|all_neural(6;0.000318)				TCCAGGATCCTTCGGTTCCCA	0.627													4	35					0	0	1	0	0	G	24122551	T	G	24122551	3	3	81	1	0	0	0	0	1	0	0	0	9698	1609	56	5	354	5	MMP11	22	24122551	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	36400	24122551	27182015	14663	18279											
SMARCB1	6598	broad.mit.edu	37	22	24135839	24135839	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:24135839C>A	ENST00000344921.6	+	3	506	c.299C>A	c.(298-300)gCt>gAt	p.A100D	SMARCB1_ENST00000407082.3_Missense_Mutation_p.A109D|SMARCB1_ENST00000407422.3_Missense_Mutation_p.A100D|SMARCB1_ENST00000263121.7_Missense_Mutation_p.A109D			Q12824	SNF5_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1	109					cell cycle|chromatin remodeling|DNA integration|interspecies interaction between organisms|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|retroviral genome replication|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleolus|nucleoplasm|SWI/SNF complex	p53 binding	p.?(2)		bone(4)|central_nervous_system(198)|endometrium(4)|haematopoietic_and_lymphoid_tissue(25)|kidney(3)|large_intestine(5)|liver(2)|lung(5)|meninges(5)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|soft_tissue(194)	458		Medulloblastoma(6;2.2e-09)|all_neural(6;2.73e-05)				AAGTACAAGGCTGTGTCCATC	0.532			"D, N, F, S"		malignant rhabdoid	malignant rhabdoid							35	65					4.34311e-12	5.41059e-12	1	1	0	A	24135839	C	A	24135839	3	1	81	1	0	0	0	0	1	0	0	0	14828	797	28	4	336	4	SMARCB1	22	24135839	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	13288	24135839	27168727	14664	18280											
SLC2A11	66035	broad.mit.edu	37	22	24210757	24210757	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:24210757C>T	ENST00000345044.6	+	3	478	c.210C>T	c.(208-210)atC>atT	p.I70I	SLC2A11_ENST00000403208.3_Silent_p.I70I|AP000350.10_ENST00000433835.3_Silent_p.I35I|SLC2A11_ENST00000467660.1_3'UTR|SLC2A11_ENST00000398356.2_Silent_p.I77I|SLC2A11_ENST00000316185.8_Silent_p.I73I|SLC2A11_ENST00000405847.1_Silent_p.I70I			Q9BYW1	GTR11_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 11	70						integral to membrane|plasma membrane	sugar transmembrane transporter activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(2)	12						GGTCCCTCATCGTGTCTCTGT	0.562													32	40					0	0	1	0	0	T	24210757	C	T	24210757	2	4	81	1	0	0	0	0	0	0	0	1	14595	874	31	1		1	SLC2A11	22	24210757	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	74918	24210757	27093809	14665	18281											
SLC2A11	66035	broad.mit.edu	37	22	24220040	24220040	+	Silent	SNP	C	C	T	rs145179201	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:24220040C>T	ENST00000345044.6	+	6	937	c.669C>T	c.(667-669)acC>acT	p.T223T	AP000350.10_ENST00000433835.3_Intron|SLC2A11_ENST00000467660.1_3'UTR|SLC2A11_ENST00000398356.2_Silent_p.T230T|SLC2A11_ENST00000316185.8_Silent_p.T226T			Q9BYW1	GTR11_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 11	223						integral to membrane|plasma membrane	sugar transmembrane transporter activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(2)	12						GTGGAGACACCGAGGCCTGCC	0.637													3	11					0	0	1	0	0	T	24220040	C	T	24220040	2	4	81	1	0	0	0	0	0	0	0	1	14595	639	23	1		1	SLC2A11	22	24220040	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	9283	24220040	27084526	14666	18282											
GSTT1	2952	broad.mit.edu	37	22	24376858	24376858	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:24376858G>A	ENST00000248935.5	-	4	544	c.492C>T	c.(490-492)tcC>tcT	p.S164S	GSTT1_ENST00000439996.2_Silent_p.S46S	NM_000853.2	NP_000844.2	P30711	GSTT1_HUMAN	glutathione S-transferase theta 1	164	GST C-terminal.				glutathione metabolic process	cytosol|soluble fraction	glutathione peroxidase activity|glutathione transferase activity			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|ovary(1)|prostate(1)|skin(1)	6					Glutathione(DB00143)	GGTCAGCTAAGGAGATGTGAG	0.577									Myelodysplasia and Acute Myeloid Leukemia (AML), Familial				16	3					0	0	1	0	0	A	24376858	G	A	24376858	2	1	81	1	0	0	0	0	0	0	0	1	6886	987	35	2		2	GSTT1	22	24376858	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	156818	24376858	26927708	14667	18283											
GSTT1	2952	broad.mit.edu	37	22	24381723	24381723	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:24381723G>A	ENST00000248935.5	-	2	229	c.177C>T	c.(175-177)gaC>gaT	p.D59D	GSTT1_ENST00000439996.2_Intron	NM_000853.2	NP_000844.2	P30711	GSTT1_HUMAN	glutathione S-transferase theta 1	59	GST N-terminal.				glutathione metabolic process	cytosol|soluble fraction	glutathione peroxidase activity|glutathione transferase activity			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|ovary(1)|prostate(1)|skin(1)	6					Glutathione(DB00143)	TGAAGTCCCCGTCCTTCAAGG	0.562									Myelodysplasia and Acute Myeloid Leukemia (AML), Familial				5	29					0	0	1	0	0	A	24381723	G	A	24381723	2	1	81	1	0	0	0	0	0	0	0	1	6886	1136	40	1		1	GSTT1	22	24381723	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	4865	24381723	26922843	14668	18284											
CABIN1	23523	broad.mit.edu	37	22	24439447	24439447	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:24439447G>A	ENST00000398319.2	+	6	812	c.427G>A	c.(427-429)Gct>Act	p.A143T	CABIN1_ENST00000263119.5_Missense_Mutation_p.A143T|CABIN1_ENST00000405822.2_Missense_Mutation_p.A143T	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	143					cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						GATCCCCCTGGCTCGCCATGC	0.542													17	27					0	0	1	0	0	A	24439447	G	A	24439447	3	1	81	1	0	0	0	0	1	0	0	0	2546	1203	42	2	445	2	CABIN1	22	24439447	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	57724	24439447	26865119	14669	18285											
CABIN1	23523	broad.mit.edu	37	22	24451535	24451535	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:24451535G>A	ENST00000398319.2	+	9	1391	c.1006G>A	c.(1006-1008)Gcc>Acc	p.A336T	CABIN1_ENST00000263119.5_Missense_Mutation_p.A336T|CABIN1_ENST00000405822.2_Missense_Mutation_p.A286T	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	336					cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						TGTGGCTGTCGCCGAGCCTGT	0.612													16	32					0	0	1	0	0	A	24451535	G	A	24451535	3	1	81	1	0	0	0	0	1	0	0	0	2546	1087	38	1	1036	1	CABIN1	22	24451535	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	12088	24451535	26853031	14670	18286											
CABIN1	23523	broad.mit.edu	37	22	24458474	24458474	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:24458474G>A	ENST00000398319.2	+	13	2067	c.1682G>A	c.(1681-1683)gGc>gAc	p.G561D	CABIN1_ENST00000263119.5_Missense_Mutation_p.G561D|CABIN1_ENST00000405822.2_Missense_Mutation_p.G511D	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	561					cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						CTGACCAAAGGCAGAAGCTCT	0.542													13	25					0	0	1	0	0	A	24458474	G	A	24458474	3	1	81	1	0	0	0	0	1	0	0	0	2546	1203	42	2	1728	2	CABIN1	22	24458474	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	6939	24458474	26846092	14671	18287											
CABIN1	23523	broad.mit.edu	37	22	24515526	24515526	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:24515526C>T	ENST00000398319.2	+	28	4878	c.4493C>T	c.(4492-4494)cCg>cTg	p.P1498L	CABIN1_ENST00000263119.5_Missense_Mutation_p.P1498L|CABIN1_ENST00000405822.2_Missense_Mutation_p.P1419L	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	1498					cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity	p.P1498Q(1)		breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						CAGGGGCTGCCGGCTGGTGCT	0.642													10	38					0	0	1	0	0	T	24515526	C	T	24515526	3	4	81	1	0	0	0	0	1	0	0	0	2546	652	23	1	4599	1	CABIN1	22	24515526	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	57052	24515526	26789040	14672	18288											
SUSD2	56241	broad.mit.edu	37	22	24581676	24581676	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:24581676C>T	ENST00000358321.3	+	8	1379	c.1118C>T	c.(1117-1119)aCg>aTg	p.T373M		NM_019601.3	NP_062547.1	Q9UGT4	SUSD2_HUMAN	sushi domain containing 2	373	AMOP.				immune response	integral to membrane	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26						GCGGACGGGACGCAGCTCCTG	0.701													4	5					0	0	1	0	0	T	24581676	C	T	24581676	3	4	81	1	0	0	0	0	1	0	0	0	15464	536	19	1	1148	1	SUSD2	22	24581676	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	66150	24581676	26722890	14673	18289											
SUSD2	56241	broad.mit.edu	37	22	24582270	24582270	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:24582270A>G	ENST00000358321.3	+	10	1790	c.1529A>G	c.(1528-1530)gAg>gGg	p.E510G		NM_019601.3	NP_062547.1	Q9UGT4	SUSD2_HUMAN	sushi domain containing 2	510	VWFD.				immune response	integral to membrane	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26						GCCGTCCAGGAGGGCAACTCA	0.652													8	22					0	0	1	0	0	G	24582270	A	G	24582270	3	3	81	1	0	0	0	0	1	0	0	0	15464	304	11	3	1567	3	SUSD2	22	24582270	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	594	24582270	26722296	14674	18290											
SUSD2	56241	broad.mit.edu	37	22	24583574	24583574	+	Missense_Mutation	SNP	G	G	A	rs114116915	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:24583574G>A	ENST00000358321.3	+	12	2188	c.1927G>A	c.(1927-1929)Gat>Aat	p.D643N		NM_019601.3	NP_062547.1	Q9UGT4	SUSD2_HUMAN	sushi domain containing 2	643	VWFD.				immune response	integral to membrane	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26						GCTCACCTACGATTCCTGGTT	0.632													22	26					0	0	1	0	0	A	24583574	G	A	24583574	3	1	81	1	0	0	0	0	1	0	0	0	15464	1058	37	1	1973	1	SUSD2	22	24583574	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1304	24583574	26720992	14675	18291											
GGT5	2687	broad.mit.edu	37	22	24616068	24616068	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:24616068A>T	ENST00000327365.4	-	12	2047	c.1631T>A	c.(1630-1632)cTc>cAc	p.L544H	GGT5_ENST00000398292.3_Missense_Mutation_p.L545H|GGT5_ENST00000418439.2_Missense_Mutation_p.L468H|GGT5_ENST00000263112.7_Missense_Mutation_p.L512H	NM_001099781.1|NM_004121.2	NP_001093251.1|NP_004112.2	P36269	GGT5_HUMAN	gamma-glutamyltransferase 5	544					glutathione biosynthetic process|hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process	integral to membrane|plasma membrane	acyltransferase activity|gamma-glutamyltransferase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(3)|skin(3)	28						ACGGTCTTGGAGTCCCCTCTG	0.617													11	23					0	0	1	0	0	T	24616068	A	T	24616068	3	4	81	1	0	0	0	0	1	0	0	0	6404	304	11	5	133	5	GGT5	22	24616068	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	32494	24616068	26688498	14676	18292											
GGT5	2687	broad.mit.edu	37	22	24622178	24622178	+	Silent	SNP	G	G	A	rs144798635		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:24622178G>A	ENST00000327365.4	-	8	1511	c.1095C>T	c.(1093-1095)atC>atT	p.I365I	GGT5_ENST00000398292.3_Silent_p.I365I|GGT5_ENST00000418439.2_Silent_p.I288I|GGT5_ENST00000263112.7_Silent_p.I333I	NM_001099781.1|NM_004121.2	NP_001093251.1|NP_004112.2	P36269	GGT5_HUMAN	gamma-glutamyltransferase 5	365					glutathione biosynthetic process|hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process	integral to membrane|plasma membrane	acyltransferase activity|gamma-glutamyltransferase activity	p.I365I(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(3)|skin(3)	28						CCCGGCCATCGATCTGTTGGC	0.692													19	29					0	0	1	0	0	A	24622178	G	A	24622178	2	1	81	1	0	0	0	0	0	0	0	1	6404	1048	37	1		1	GGT5	22	24622178	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	6110	24622178	26682388	14677	18293											
SNRPD3	6634	broad.mit.edu	37	22	24964127	24964127	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:24964127C>T	ENST00000215829.3	+	3	889	c.302C>T	c.(301-303)gCt>gTt	p.A101V	SNRPD3_ENST00000402849.1_Missense_Mutation_p.A101V	NM_001278656.1|NM_004175.3	NP_001265585.1|NP_004166.1	P62318	SMD3_HUMAN	small nuclear ribonucleoprotein D3 polypeptide 18kDa	101	Arg/Lys-rich (basic).				histone mRNA metabolic process|ncRNA metabolic process|spliceosomal snRNP assembly|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nucleoplasm|U12-type spliceosomal complex|U7 snRNP	enzyme binding|histone pre-mRNA DCP binding			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	6						GGAAAAGCTGCTATTCTCAAG	0.453													9	50					0	0	1	0	0	T	24964127	C	T	24964127	3	4	81	1	0	0	0	0	1	0	0	0	14920	797	28	2	308	2	SNRPD3	22	24964127	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	341949	24964127	26340439	14678	18294											
PIWIL3	440822	broad.mit.edu	37	22	25115768	25115768	+	Missense_Mutation	SNP	C	C	A	rs142951647		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:25115768C>A	ENST00000332271.5	-	20	2895	c.2479G>T	c.(2479-2481)Gat>Tat	p.D827Y	PIWIL3_ENST00000532537.2_5'UTR|PIWIL3_ENST00000533313.1_Missense_Mutation_p.D709Y|PIWIL3_ENST00000527701.1_Missense_Mutation_p.D709Y	NM_001008496.3|NM_001255975.1	NP_001008496.2|NP_001242904.1	Q7Z3Z3	PIWL3_HUMAN	piwi-like RNA-mediated gene silencing 3	827	Piwi.				cell differentiation|gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatogenesis	cytoplasm	RNA binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						TGTACTGTATCTGGGCTCAAG	0.358													22	36					2.89027e-11	3.57291e-11	1	1	0	A	25115768	C	A	25115768	3	1	81	1	0	0	0	0	1	0	0	0	12007	913	32	4	177	4	PIWIL3	22	25115768	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	151641	25115768	26188798	14679	18295											
PIWIL3	440822	broad.mit.edu	37	22	25147375	25147375	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:25147375G>T	ENST00000332271.5	-	9	1484	c.1068C>A	c.(1066-1068)acC>acA	p.T356T	PIWIL3_ENST00000532537.2_5'UTR|PIWIL3_ENST00000533313.1_Silent_p.T247T|PIWIL3_ENST00000527701.1_Silent_p.T247T	NM_001008496.3|NM_001255975.1	NP_001008496.2|NP_001242904.1	Q7Z3Z3	PIWL3_HUMAN	piwi-like RNA-mediated gene silencing 3	356	PAZ.				cell differentiation|gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatogenesis	cytoplasm	RNA binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						AGTCTATATAGGTGATTTTGC	0.313													14	204					2.61681e-11	3.23796e-11	1	1	0	T	25147375	G	T	25147375	2	4	81	1	0	0	0	0	0	0	0	1	12007	987	35	4		4	PIWIL3	22	25147375	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	31607	25147375	26157191	14680	18296											
TMEM211	255349	broad.mit.edu	37	22	25334157	25334157	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:25334157C>A	ENST00000407886.1	-	3	338	c.86G>T	c.(85-87)aGg>aTg	p.R29M	TMEM211_ENST00000382744.1_Missense_Mutation_p.R29M|TMEM211_ENST00000423535.1_Missense_Mutation_p.R100M			Q6ICI0	TM211_HUMAN	transmembrane protein 211	100						integral to membrane				endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	8						ACTGCTTCTCCTTGGGCACAG	0.532													4	62					0.184627	0.18622	1	1	0	A	25334157	C	A	25334157	3	1	81	1	0	0	0	0	1	0	0	0	16195	681	24	4	311	4	TMEM211	22	25334157	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	186782	25334157	25970409	14681	18297											
LRP5L	91355	broad.mit.edu	37	22	25750681	25750681	+	Silent	SNP	G	G	A	rs150219610		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:25750681G>A	ENST00000444995.3	-	6	1237	c.537C>T	c.(535-537)acC>acT	p.T179T	LRP5L_ENST00000402785.2_Silent_p.T179T|LRP5L_ENST00000402859.2_Silent_p.T179T			A4QPB2	LRP5L_HUMAN	low density lipoprotein receptor-related protein 5-like	179										central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(2)	6						GCTGCCAGGCGGTCCAGTAGA	0.577													6	56					0	0	1	0	0	A	25750681	G	A	25750681	2	1	81	1	0	0	0	0	0	0	0	1	9006	1103	39	1		1	LRP5L	22	25750681	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	416524	25750681	25553885	14682	18298											
ADRBK2	157	broad.mit.edu	37	22	26063737	26063737	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:26063737G>A	ENST00000324198.6	+	6	665	c.473G>A	c.(472-474)cGa>cAa	p.R158Q		NM_005160.3	NP_005151.2	P35626	ARBK2_HUMAN	adrenergic, beta, receptor kinase 2		N-terminal.|RGS.						ATP binding|beta-adrenergic receptor kinase activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(2)|skin(3)|stomach(2)	32					Adenosine triphosphate(DB00171)	GAAAGCCTTCGAGGTGACATT	0.323													5	39					0	0	1	0	0	A	26063737	G	A	26063737	3	1	81	1	0	0	0	0	1	0	0	0	343	1058	37	1	495	1	ADRBK2	22	26063737	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	313056	26063737	25240829	14683	18299											
ADRBK2	157	broad.mit.edu	37	22	26114289	26114289	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:26114289C>T	ENST00000324198.6	+	19	1924	c.1732C>T	c.(1732-1734)Cgt>Tgt	p.R578C		NM_005160.3	NP_005151.2	P35626	ARBK2_HUMAN	adrenergic, beta, receptor kinase 2		PH.						ATP binding|beta-adrenergic receptor kinase activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(2)|skin(3)|stomach(2)	32					Adenosine triphosphate(DB00171)	TCAGTGGCAGCGTCGCTATTT	0.488													50	63					0	0	1	0	0	T	26114289	C	T	26114289	3	4	81	1	0	0	0	0	1	0	0	0	343	768	27	1	1806	1	ADRBK2	22	26114289	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	50552	26114289	25190277	14684	18300											
MYO18B	84700	broad.mit.edu	37	22	26165202	26165202	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:26165202G>A	ENST00000335473.7	+	4	1569	c.1319G>A	c.(1318-1320)aGc>aAc	p.S440N	MYO18B_ENST00000536101.1_Missense_Mutation_p.S440N|MYO18B_ENST00000407587.2_Missense_Mutation_p.S440N	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	440						nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						TGGCCAGGAAGCCGTGGGCAG	0.632													4	5					0	0	1	0	0	A	26165202	G	A	26165202	3	1	81	1	0	0	0	0	1	0	0	0	10114	971	34	2	1329	2	MYO18B	22	26165202	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	50913	26165202	25139364	14685	18301											
MYO18B	84700	broad.mit.edu	37	22	26168350	26168350	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:26168350G>T	ENST00000335473.7	+	7	1992	c.1742G>T	c.(1741-1743)aGt>aTt	p.S581I	MYO18B_ENST00000536101.1_Missense_Mutation_p.S581I|MYO18B_ENST00000407587.2_Missense_Mutation_p.S581I	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	581	Myosin head-like.					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						TCTCTCATCAGTGTCAACGAA	0.597													34	49					4.42602e-33	5.91617e-33	1	1	0	T	26168350	G	T	26168350	3	4	81	1	0	0	0	0	1	0	0	0	10114	1029	36	4	1764	4	MYO18B	22	26168350	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	3148	26168350	25136216	14686	18302											
MYO18B	84700	broad.mit.edu	37	22	26272207	26272207	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:26272207G>A	ENST00000335473.7	+	24	4382	c.4132G>A	c.(4132-4134)Gca>Aca	p.A1378T	MYO18B_ENST00000536101.1_Missense_Mutation_p.A1378T|MYO18B_ENST00000407587.2_Missense_Mutation_p.A1379T	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	1378						nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						TGTGTTCCTCGCAGTCAAGGA	0.572													9	13					0	0	1	0	0	A	26272207	G	A	26272207	3	1	81	1	0	0	0	0	1	0	0	0	10114	1087	38	1	4222	1	MYO18B	22	26272207	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	103857	26272207	25032359	14687	18303											
MYO18B	84700	broad.mit.edu	37	22	26272246	26272246	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:26272246C>A	ENST00000335473.7	+	24	4421	c.4171C>A	c.(4171-4173)Ctc>Atc	p.L1391I	MYO18B_ENST00000536101.1_Missense_Mutation_p.L1391I|MYO18B_ENST00000407587.2_Missense_Mutation_p.L1392I	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	1391						nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						GCTTGGTTCCCTCCAGCCTCT	0.592													12	15					6.40141e-05	7.07494e-05	1	1	0	A	26272246	C	A	26272246	3	1	81	1	0	0	0	0	1	0	0	0	10114	681	24	4	4261	4	MYO18B	22	26272246	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	39	26272246	25032320	14688	18304											
MYO18B	84700	broad.mit.edu	37	22	26422936	26422936	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:26422936C>T	ENST00000335473.7	+	43	7246	c.6996C>T	c.(6994-6996)gaC>gaT	p.D2332D	MYO18B_ENST00000536101.1_Silent_p.D2332D|MYO18B_ENST00000407587.2_Silent_p.D2333D	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2332						nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						TCTCTTCAGACGGTGTTGGGG	0.552													18	43					0	0	1	0	0	T	26422936	C	T	26422936	2	4	81	1	0	0	0	0	0	0	0	1	10114	535	19	1		1	MYO18B	22	26422936	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	150690	26422936	24881630	14689	18305											
SEZ6L	23544	broad.mit.edu	37	22	26706775	26706775	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:26706775G>A	ENST00000529632.2	+	7	1850	c.1654G>A	c.(1654-1656)Gcc>Acc	p.A552T	SEZ6L_ENST00000403121.1_Missense_Mutation_p.A325T|SEZ6L_ENST00000404234.3_Missense_Mutation_p.A552T|SEZ6L_ENST00000343706.4_Missense_Mutation_p.A552T|SEZ6L_ENST00000402979.1_Missense_Mutation_p.A325T|SEZ6L_ENST00000360929.3_Missense_Mutation_p.A552T|SEZ6L_ENST00000248933.6_Missense_Mutation_p.A552T	NM_001184774.1|NM_001184775.1|NM_001184777.1	NP_001171703.1|NP_001171704.1|NP_001171706.1	Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	552	CUB 2.					endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						GGCCCGGGCGGCCTCCACCTT	0.607													32	58					0	0	1	0	0	A	26706775	G	A	26706775	3	1	81	1	0	0	0	0	1	0	0	0	14197	1203	42	2	1680	2	SEZ6L	22	26706775	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	283839	26706775	24597791	14690	18306											
HPS4	89781	broad.mit.edu	37	22	26868841	26868841	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:26868841C>A	ENST00000398145.2	-	5	957	c.341G>T	c.(340-342)gGa>gTa	p.G114V	HPS4_ENST00000336873.5_Missense_Mutation_p.G114V|HPS4_ENST00000402105.3_Missense_Mutation_p.G109V|HPS4_ENST00000398141.1_Missense_Mutation_p.G109V	NM_022081.5	NP_071364.4	Q9NQG7	HPS4_HUMAN	Hermansky-Pudlak syndrome 4	114					lysosome organization|positive regulation of eye pigmentation|protein stabilization|protein targeting	lysosome|melanosome|membrane fraction|platelet dense granule	protein homodimerization activity			breast(2)|endometrium(3)|kidney(5)|large_intestine(4)|lung(12)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	32						ATTAAAGAATCCAACTAGCTG	0.458									Hermansky-Pudlak syndrome				26	53					1.7881e-09	2.16277e-09	1	1	0	A	26868841	C	A	26868841	3	1	81	1	0	0	0	0	1	0	0	0	7382	855	30	5	1825	5	HPS4	22	26868841	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	162066	26868841	24435725	14691	18307											
SRRD	402055	broad.mit.edu	37	22	26884027	26884027	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:26884027G>A	ENST00000215917.7	+	3	297	c.283G>A	c.(283-285)Gaa>Aaa	p.E95K		NM_001013694.2	NP_001013716.2	Q9UH36	SRR1L_HUMAN	SRR1 domain containing						rhythmic process					endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	4						AAAACATCTGGAACAACTGAA	0.478													16	11					0	0	1	0	0	A	26884027	G	A	26884027	3	1	81	1	0	0	0	0	1	0	0	0	15223	1175	41	2	293	2	SRRD	22	26884027	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	15186	26884027	24420539	14692	18308											
TFIP11	24144	broad.mit.edu	37	22	26890245	26890245	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:26890245C>T	ENST00000407690.1	-	14	2301	c.2018G>A	c.(2017-2019)aGc>aAc	p.S673N	TFIP11_ENST00000407431.1_Missense_Mutation_p.S673N|TFIP11_ENST00000405938.1_Missense_Mutation_p.S673N|TFIP11_ENST00000407148.1_Missense_Mutation_p.S673N|SRRD_ENST00000215917.7_3'UTR	NM_012143.2	NP_036275.1	Q9UBB9	TFP11_HUMAN	tuftelin interacting protein 11	673					biomineral tissue development	catalytic step 2 spliceosome|cytoplasm|nuclear speck	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	25						ATAATTTGGGCTGTTACTGAG	0.443													25	36					0	0	1	0	0	T	26890245	C	T	26890245	3	4	81	1	0	0	0	0	1	0	0	0	15867	797	28	2	503	2	TFIP11	22	26890245	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	6218	26890245	24414321	14693	18309											
TFIP11	24144	broad.mit.edu	37	22	26892165	26892165	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:26892165A>G	ENST00000407690.1	-	12	2006	c.1723T>C	c.(1723-1725)Tcc>Ccc	p.S575P	TFIP11_ENST00000407431.1_Missense_Mutation_p.S575P|TFIP11_ENST00000405938.1_Missense_Mutation_p.S575P|TFIP11_ENST00000407148.1_Missense_Mutation_p.S575P	NM_012143.2	NP_036275.1	Q9UBB9	TFP11_HUMAN	tuftelin interacting protein 11	575					biomineral tissue development	catalytic step 2 spliceosome|cytoplasm|nuclear speck	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	25						AGGGCGCTGGACAGCTTACTA	0.592													23	43					0	0	1	0	0	G	26892165	A	G	26892165	3	3	81	1	0	0	0	0	1	0	0	0	15867	275	10	3	806	3	TFIP11	22	26892165	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	1920	26892165	24412401	14694	18310											
TFIP11	24144	broad.mit.edu	37	22	26895172	26895172	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:26895172G>A	ENST00000407690.1	-	9	1510	c.1227C>T	c.(1225-1227)gaC>gaT	p.D409D	TFIP11_ENST00000407431.1_Silent_p.D409D|TFIP11_ENST00000405938.1_Silent_p.D409D|TFIP11_ENST00000407148.1_Silent_p.D409D	NM_012143.2	NP_036275.1	Q9UBB9	TFP11_HUMAN	tuftelin interacting protein 11	409					biomineral tissue development	catalytic step 2 spliceosome|cytoplasm|nuclear speck	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	25						CATAGTACTTGTCCTGCAGGG	0.587													8	59					0	0	1	0	0	A	26895172	G	A	26895172	2	1	81	1	0	0	0	0	0	0	0	1	15867	1368	48	2		2	TFIP11	22	26895172	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	3007	26895172	24409394	14695	18311											
CRYBA4	1413	broad.mit.edu	37	22	27021500	27021500	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:27021500G>T	ENST00000354760.3	+	4	249	c.214G>T	c.(214-216)Ggc>Tgc	p.G72C	CRYBA4_ENST00000466315.1_3'UTR	NM_001886.2	NP_001877.1	P53673	CRBA4_HUMAN	crystallin, beta A4	72	Beta/gamma crystallin 'Greek key' 2.				camera-type eye development|visual perception	soluble fraction	structural constituent of eye lens			large_intestine(6)|liver(1)|lung(6)|skin(3)|urinary_tract(2)	18						TCTGGAACGAGGCGAATATCC	0.617													12	173					5.50884e-06	6.24461e-06	1	1	0	T	27021500	G	T	27021500	3	4	81	1	0	0	0	0	1	0	0	0	3932	1000	35	4	224	4	CRYBA4	22	27021500	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	126328	27021500	24283066	14696	18312											
MN1	4330	broad.mit.edu	37	22	28192905	28192905	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:28192905G>A	ENST00000302326.4	-	1	4581	c.3627C>T	c.(3625-3627)agC>agT	p.S1209S		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	1209							binding			NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						TGCTCATGGCGCTCTTGACCG	0.667			T	ETV6	"AML, meningioma"								17	21					0	0	1	0	0	A	28192905	G	A	28192905	2	1	81	1	0	0	0	0	0	0	0	1	9722	1078	38	1		1	MN1	22	28192905	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1171405	28192905	23111661	14697	18313											
MN1	4330	broad.mit.edu	37	22	28193520	28193520	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:28193520C>T	ENST00000302326.4	-	1	3966	c.3012G>A	c.(3010-3012)gcG>gcA	p.A1004A		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	1004							binding			NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						GCGACGTGAGCGCCTTTTCGT	0.701			T	ETV6	"AML, meningioma"								18	27					0	0	1	0	0	T	28193520	C	T	28193520	2	4	81	1	0	0	0	0	0	0	0	1	9722	755	27	1		1	MN1	22	28193520	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	615	28193520	23111046	14698	18314											
MN1	4330	broad.mit.edu	37	22	28193733	28193733	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:28193733C>T	ENST00000302326.4	-	1	3753	c.2799G>A	c.(2797-2799)aaG>aaA	p.K933K		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	933							binding			NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						CGGAGACCGGCTTGCCGTCAT	0.687			T	ETV6	"AML, meningioma"								7	7					0	0	1	0	0	T	28193733	C	T	28193733	2	4	81	1	0	0	0	0	0	0	0	1	9722	796	28	2		2	MN1	22	28193733	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	213	28193733	23110833	14699	18315											
MN1	4330	broad.mit.edu	37	22	28193974	28193974	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:28193974G>A	ENST00000302326.4	-	1	3512	c.2558C>T	c.(2557-2559)cCg>cTg	p.P853L		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	853							binding			NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						GCCCTCTGGCGGGTTCTTCTT	0.647			T	ETV6	"AML, meningioma"								46	75					0	0	1	0	0	A	28193974	G	A	28193974	3	1	81	1	0	0	0	0	1	0	0	0	9722	1116	39	1	1412	1	MN1	22	28193974	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	241	28193974	23110592	14700	18316											
PITPNB	23760	broad.mit.edu	37	22	28306976	28306976	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:28306976G>A	ENST00000335272.5	-	3	249	c.173C>T	c.(172-174)aCg>aTg	p.T58M	PITPNB_ENST00000455418.3_Missense_Mutation_p.T60M|PITPNB_ENST00000320996.10_Missense_Mutation_p.T58M	NM_012399.3	NP_036531.1	P48739	PIPNB_HUMAN	phosphatidylinositol transfer protein, beta	58					lipid metabolic process|transport	Golgi apparatus	lipid binding			large_intestine(4)|lung(3)|skin(1)	8						AATTTTGTGCGTATACTGTCC	0.398													29	64					0	0	1	0	0	A	28306976	G	A	28306976	3	1	81	1	0	0	0	0	1	0	0	0	11996	1145	40	1	678	1	PITPNB	22	28306976	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	113002	28306976	22997590	14701	18317											
CHEK2	11200	broad.mit.edu	37	22	29121015	29121015	+	Missense_Mutation	SNP	C	C	T	rs121908701		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:29121015C>T	ENST00000382580.2	-	5	746	c.671G>A	c.(670-672)cGt>cAt	p.R224H	CHEK2_ENST00000382578.1_Intron|CHEK2_ENST00000382566.1_Missense_Mutation_p.R181H|CHEK2_ENST00000402731.1_Missense_Mutation_p.R181H|CHEK2_ENST00000404276.1_Missense_Mutation_p.R181H|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000403642.1_Intron|CHEK2_ENST00000405598.1_Missense_Mutation_p.R181H|CHEK2_ENST00000544772.1_5'UTR|CHEK2_ENST00000328354.6_Missense_Mutation_p.R181H|CHEK2_ENST00000348295.3_Missense_Mutation_p.R181H	NM_001005735.1	NP_001005735.1	O96017	CHK2_HUMAN	checkpoint kinase 2	181	Protein kinase.				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						ATTCAAAGGACGGCGTTTTCC	0.353			F			breast		Direct reversal of damage;Other conserved DNA damage response genes					19	51					0	0	1	0	0	T	29121015	C	T	29121015	3	4	81	1	0	0	0	0	1	0	0	0	3357	536	19	1	1137	1	CHEK2	22	29121015	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	814039	29121015	22183551	14702	18318											
CHEK2	11200	broad.mit.edu	37	22	29121084	29121084	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:29121084G>A	ENST00000382580.2	-	5	677	c.602C>T	c.(601-603)gCa>gTa	p.A201V	CHEK2_ENST00000382578.1_Intron|CHEK2_ENST00000382566.1_Missense_Mutation_p.A158V|CHEK2_ENST00000402731.1_Missense_Mutation_p.A158V|CHEK2_ENST00000404276.1_Missense_Mutation_p.A158V|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000403642.1_Intron|CHEK2_ENST00000405598.1_Missense_Mutation_p.A158V|CHEK2_ENST00000544772.1_5'UTR|CHEK2_ENST00000328354.6_Missense_Mutation_p.A158V|CHEK2_ENST00000348295.3_Missense_Mutation_p.A158V	NM_001005735.1	NP_001005735.1	O96017	CHK2_HUMAN	checkpoint kinase 2	158					cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						TTCTATGTATGCAATGTAAGA	0.348			F			breast		Direct reversal of damage;Other conserved DNA damage response genes					21	71					0	0	1	0	0	A	29121084	G	A	29121084	3	1	81	1	0	0	0	0	1	0	0	0	3357	1319	46	2	1206	2	CHEK2	22	29121084	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	69	29121084	22183482	14703	18319											
ZNRF3	84133	broad.mit.edu	37	22	29446342	29446342	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:29446342G>A	ENST00000544604.2	+	8	2348	c.2173G>A	c.(2173-2175)Gcc>Acc	p.A725T	ZNRF3_ENST00000406323.3_Missense_Mutation_p.A625T|ZNRF3_ENST00000402174.1_Missense_Mutation_p.A625T|ZNRF3_ENST00000332811.4_Missense_Mutation_p.A625T	NM_001206998.1	NP_001193927.1	Q9ULT6	ZNRF3_HUMAN	zinc and ring finger 3	725						integral to membrane	zinc ion binding	p.A625P(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(4)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	28						CGGGCCTAGCGCCGGAGCAGC	0.726													4	16					0	0	1	0	0	A	29446342	G	A	29446342	3	1	81	1	0	0	0	0	1	0	0	0	18255	1087	38	1	1899	1	ZNRF3	22	29446342	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	325258	29446342	21858224	14704	18320											
ZNRF3	84133	broad.mit.edu	37	22	29446491	29446491	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:29446491C>T	ENST00000544604.2	+	8	2497	c.2322C>T	c.(2320-2322)taC>taT	p.Y774Y	ZNRF3_ENST00000406323.3_Silent_p.Y674Y|ZNRF3_ENST00000402174.1_Silent_p.Y674Y|ZNRF3_ENST00000332811.4_Silent_p.Y674Y	NM_001206998.1	NP_001193927.1	Q9ULT6	ZNRF3_HUMAN	zinc and ring finger 3	774						integral to membrane	zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(4)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	28						GGGTGAAATACGAGGGTCTGC	0.652													9	13					0	0	1	0	0	T	29446491	C	T	29446491	2	4	81	1	0	0	0	0	0	0	0	1	18255	547	19	1		1	ZNRF3	22	29446491	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	149	29446491	21858075	14705	18321											
KREMEN1	83999	broad.mit.edu	37	22	29533483	29533483	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:29533483A>G	ENST00000400338.2	+	6	838	c.785A>G	c.(784-786)gAc>gGc	p.D262G	KREMEN1_ENST00000400335.4_Missense_Mutation_p.D262G|KREMEN1_ENST00000407188.1_Missense_Mutation_p.D260G|KREMEN1_ENST00000327813.5_Missense_Mutation_p.D262G			Q96MU8	KREM1_HUMAN	kringle containing transmembrane protein 1	260	CUB.				cell communication|regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane|membrane fraction	protein binding			breast(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	20						CCCCTATTTGACATCAGGGAC	0.632													7	69					0	0	1	0	0	G	29533483	A	G	29533483	3	3	81	1	0	0	0	0	1	0	0	0	8485	275	10	3	807	3	KREMEN1	22	29533483	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	86992	29533483	21771083	14706	18322											
GAS2L1	10634	broad.mit.edu	37	22	29704282	29704282	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:29704282T>C	ENST00000471961.1	+	1	1235	c.187T>C	c.(187-189)Tgc>Cgc	p.C63R	GAS2L1_ENST00000407647.2_Missense_Mutation_p.C63R|GAS2L1_ENST00000341313.6_Missense_Mutation_p.C63R|GAS2L1_ENST00000360113.2_Missense_Mutation_p.C63R|GAS2L1_ENST00000406549.3_Missense_Mutation_p.C63R|GAS2L1_ENST00000403764.1_Missense_Mutation_p.C63R|GAS2L1_ENST00000407854.1_Missense_Mutation_p.C63R			Q99501	GA2L1_HUMAN	growth arrest-specific 2 like 1	63	CH.				cell cycle arrest	cytoplasm|cytoskeleton				endometrium(2)|lung(2)|prostate(1)	5						CACGACCCTGTGCCAACATGC	0.692													5	6					0	0	1	0	0	C	29704282	T	C	29704282	3	2	81	1	0	0	0	0	1	0	0	0	6286	1696	59	3	189	3	GAS2L1	22	29704282	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	170799	29704282	21600284	14707	18323											
AP1B1	162	broad.mit.edu	37	22	29724848	29724848	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:29724848G>A	ENST00000357586.2	-	23	2998	c.2812C>T	c.(2812-2814)Cac>Tac	p.H938Y	AP1B1_ENST00000405198.1_Missense_Mutation_p.H938Y|AP1B1_ENST00000402502.1_Missense_Mutation_p.H928Y|AP1B1_ENST00000415447.1_Missense_Mutation_p.H928Y|AP1B1_ENST00000432560.2_Missense_Mutation_p.H928Y|AP1B1_ENST00000356015.2_Missense_Mutation_p.H931Y|AP1B1_ENST00000317368.7_Missense_Mutation_p.H908Y	NM_001127.3	NP_001118	Q10567	AP1B1_HUMAN	adaptor-related protein complex 1, beta 1 subunit	938					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding|protein transporter activity			endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						TGGTACACGTGCTGGGACACC	0.657													6	9					0	0	1	0	0	A	29724848	G	A	29724848	3	1	81	1	0	0	0	0	1	0	0	0	727	1319	46	2	41	2	AP1B1	22	29724848	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	20566	29724848	21579718	14708	18324											
AP1B1	162	broad.mit.edu	37	22	29755866	29755866	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:29755866A>G	ENST00000357586.2	-	4	412	c.226T>C	c.(226-228)Tac>Cac	p.Y76H	AP1B1_ENST00000317368.7_Missense_Mutation_p.Y76H|AP1B1_ENST00000356015.2_Missense_Mutation_p.Y76H|AP1B1_ENST00000405198.1_Missense_Mutation_p.Y76H|AP1B1_ENST00000415447.1_Missense_Mutation_p.Y76H|AP1B1_ENST00000432560.2_Missense_Mutation_p.Y76H|AP1B1_ENST00000402502.1_Missense_Mutation_p.Y76H	NM_001127.3	NP_001118	Q10567	AP1B1_HUMAN	adaptor-related protein complex 1, beta 1 subunit	76					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding|protein transporter activity			endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						CTCTTGGCGTAATTCATCAAG	0.527											OREG0026449	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	67					0	0	1	0	0	G	29755866	A	G	29755866	3	3	81	1	0	0	0	0	1	0	0	0	727	362	13	3	2703	3	AP1B1	22	29755866	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	31018	29755866	21548700	14709	18325											
THOC5	8563	broad.mit.edu	37	22	29904471	29904471	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:29904471G>A	ENST00000490103.1	-	20	2149	c.2027C>T	c.(2026-2028)cCt>cTt	p.P676L	THOC5_ENST00000397873.2_Missense_Mutation_p.P676L|THOC5_ENST00000397871.1_Missense_Mutation_p.P676L|THOC5_ENST00000397872.1_Missense_Mutation_p.P676L	NM_003678.4	NP_003669.4	Q13769	THOC5_HUMAN	THO complex 5	676					intronless viral mRNA export from host nucleus|monocyte differentiation|mRNA processing|primitive hemopoiesis|RNA splicing	cytoplasm|intermediate filament cytoskeleton|THO complex part of transcription export complex	protein binding|RNA binding			NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GAATCCCTGAGGATGGTTGTA	0.488													12	20					0	0	1	0	0	A	29904471	G	A	29904471	3	1	81	1	0	0	0	0	1	0	0	0	15928	1000	35	2	28	2	THOC5	22	29904471	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	148605	29904471	21400095	14710	18326											
MTMR3	8897	broad.mit.edu	37	22	30416049	30416049	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:30416049A>C	ENST00000333027.3	+	17	2729	c.2401A>C	c.(2401-2403)Att>Ctt	p.I801L	CTA-85E5.10_ENST00000429350.1_RNA|MTMR3_ENST00000401950.2_Missense_Mutation_p.I801L|MTMR3_ENST00000406629.1_Missense_Mutation_p.I801L|MTMR3_ENST00000351488.3_Missense_Mutation_p.I801L|CTA-85E5.10_ENST00000453743.2_RNA|MTMR3_ENST00000323630.5_Missense_Mutation_p.I665L	NM_153050.2|NM_153051.2	NP_694690.1|NP_694691.1	Q13615	MTMR3_HUMAN	myotubularin related protein 3	801					phosphatidylinositol dephosphorylation	cytoplasm|membrane|membrane fraction|nucleus	metal ion binding|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity			breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)			AATAGAAGAGATTGCAGAGGG	0.537													8	58					0	0	1	0	0	C	30416049	A	C	30416049	3	2	81	1	0	0	0	0	1	0	0	0	9993	333	12	4	2459	4	MTMR3	22	30416049	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	511578	30416049	20888517	14711	18327											
MTMR3	8897	broad.mit.edu	37	22	30416681	30416681	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:30416681C>T	ENST00000333027.3	+	17	3361	c.3033C>T	c.(3031-3033)tcC>tcT	p.S1011S	CTA-85E5.10_ENST00000429350.1_RNA|MTMR3_ENST00000401950.2_Silent_p.S1011S|MTMR3_ENST00000406629.1_Silent_p.S1011S|MTMR3_ENST00000351488.3_Silent_p.S1011S|CTA-85E5.10_ENST00000453743.2_RNA|MTMR3_ENST00000323630.5_Silent_p.S875S	NM_153050.2|NM_153051.2	NP_694690.1|NP_694691.1	Q13615	MTMR3_HUMAN	myotubularin related protein 3	1011					phosphatidylinositol dephosphorylation	cytoplasm|membrane|membrane fraction|nucleus	metal ion binding|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity			breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)			ACCAGCCTTCCCGCAGCCACC	0.572													14	16					0	0	1	0	0	T	30416681	C	T	30416681	2	4	81	1	0	0	0	0	0	0	0	1	9993	610	22	2		2	MTMR3	22	30416681	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	632	30416681	20887885	14712	18328											
MTMR3	8897	broad.mit.edu	37	22	30416742	30416742	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:30416742C>T	ENST00000333027.3	+	17	3422	c.3094C>T	c.(3094-3096)Cgt>Tgt	p.R1032C	CTA-85E5.10_ENST00000429350.1_RNA|MTMR3_ENST00000401950.2_Missense_Mutation_p.R1032C|MTMR3_ENST00000406629.1_Missense_Mutation_p.R1032C|MTMR3_ENST00000351488.3_Missense_Mutation_p.R1032C|CTA-85E5.10_ENST00000453743.2_RNA|MTMR3_ENST00000323630.5_Missense_Mutation_p.R896C	NM_153050.2|NM_153051.2	NP_694690.1|NP_694691.1	Q13615	MTMR3_HUMAN	myotubularin related protein 3	1032					phosphatidylinositol dephosphorylation	cytoplasm|membrane|membrane fraction|nucleus	metal ion binding|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity			breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)			ACAGCGCCTGCGTCAGATTGA	0.572													13	18					0	0	1	0	0	T	30416742	C	T	30416742	3	4	81	1	0	0	0	0	1	0	0	0	9993	768	27	1	3152	1	MTMR3	22	30416742	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	61	30416742	20887824	14713	18329											
TBC1D10A	83874	broad.mit.edu	37	22	30688802	30688802	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:30688802G>A	ENST00000215790.7	-	9	1253	c.1089C>T	c.(1087-1089)cgC>cgT	p.R363R	TBC1D10A_ENST00000403362.1_Silent_p.R275R|RP1-130H16.18_ENST00000447976.1_Intron|TBC1D10A_ENST00000403477.3_Silent_p.R370R	NM_031937.2	NP_114143.1	Q9BXI6	TB10A_HUMAN	TBC1 domain family, member 10A	363						intracellular|microvillus	guanyl-nucleotide exchange factor activity|PDZ domain binding|Rab GTPase activator activity			cervix(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						TGAGGTGTTCGCGCTCAATCT	0.637													15	16					0	0	1	0	0	A	30688802	G	A	30688802	2	1	81	1	0	0	0	0	0	0	0	1	15655	1074	38	1		1	TBC1D10A	22	30688802	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	272060	30688802	20615764	14714	18330											
CCDC157	550631	broad.mit.edu	37	22	30766567	30766567	+	Missense_Mutation	SNP	G	G	A	rs140264936	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:30766567G>A	ENST00000405659.1	+	5	1382	c.673G>A	c.(673-675)Gcc>Acc	p.A225T	CCDC157_ENST00000338306.3_Missense_Mutation_p.A225T			Q569K6	CC157_HUMAN	coiled-coil domain containing 157	225										central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(1)	15						TGACGCATGCGCCAGCGTCCA	0.612													14	48					0	0	1	0	0	A	30766567	G	A	30766567	3	1	81	1	0	0	0	0	1	0	0	0	2808	1087	38	1	683	1	CCDC157	22	30766567	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	77765	30766567	20537999	14715	18331											
GAL3ST1	9514	broad.mit.edu	37	22	30951066	30951066	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:30951066G>A	ENST00000402321.1	-	3	1463	c.1146C>T	c.(1144-1146)atC>atT	p.I382I	GAL3ST1_ENST00000338911.5_Silent_p.I382I|GAL3ST1_ENST00000406361.1_Silent_p.I382I|GAL3ST1_ENST00000406955.1_Silent_p.I382I|GAL3ST1_ENST00000402369.1_Silent_p.I382I|GAL3ST1_ENST00000401975.1_Silent_p.I382I|GAL3ST1_ENST00000443111.2_Silent_p.I382I			Q99999	G3ST1_HUMAN	galactose-3-O-sulfotransferase 1	382					protein N-linked glycosylation	Golgi membrane|integral to plasma membrane|membrane fraction	galactosylceramide sulfotransferase activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21						GCCGCTGCCCGATGCTCTTCT	0.672													24	30					0	0	1	0	0	A	30951066	G	A	30951066	2	1	81	1	0	0	0	0	0	0	0	1	6237	1048	37	1		1	GAL3ST1	22	30951066	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	184499	30951066	20353500	14716	18332											
OSBP2	23762	broad.mit.edu	37	22	31286763	31286763	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:31286763C>A	ENST00000332585.6	+	8	1776	c.1672C>A	c.(1672-1674)Ctg>Atg	p.L558M	OSBP2_ENST00000535268.1_Missense_Mutation_p.L102M|OSBP2_ENST00000407373.1_Missense_Mutation_p.L385M|OSBP2_ENST00000437268.2_Missense_Mutation_p.L300M|OSBP2_ENST00000382310.3_Missense_Mutation_p.L509M|OSBP2_ENST00000403222.3_Missense_Mutation_p.L392M|OSBP2_ENST00000446658.2_Missense_Mutation_p.L557M|OSBP2_ENST00000401475.1_Missense_Mutation_p.L191M	NM_001282739.1|NM_001282740.1|NM_001282741.1|NM_001282742.1|NM_030758.3	NP_001269668.1|NP_001269669.1|NP_001269670.1|NP_001269671.1|NP_110385.1	Q969R2	OSBP2_HUMAN	oxysterol binding protein 2	558					lipid transport	membrane	lipid binding			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1)	19						GACAGAGGACCTGGAGTACCA	0.627											OREG0026467	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	20					0.307466	0.308658	1	1	0	A	31286763	C	A	31286763	3	1	81	1	0	0	0	0	1	0	0	0	11321	680	24	4	1702	4	OSBP2	22	31286763	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	335697	31286763	20017803	14717	18333											
OSBP2	23762	broad.mit.edu	37	22	31286930	31286930	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:31286930C>T	ENST00000332585.6	+	8	1943	c.1839C>T	c.(1837-1839)gaC>gaT	p.D613D	OSBP2_ENST00000535268.1_Silent_p.D157D|OSBP2_ENST00000407373.1_Silent_p.D440D|OSBP2_ENST00000437268.2_Silent_p.D355D|OSBP2_ENST00000382310.3_Silent_p.D564D|OSBP2_ENST00000403222.3_Silent_p.D447D|OSBP2_ENST00000446658.2_Silent_p.D612D|OSBP2_ENST00000401475.1_Silent_p.D246D	NM_001282739.1|NM_001282740.1|NM_001282741.1|NM_001282742.1|NM_030758.3	NP_001269668.1|NP_001269669.1|NP_001269670.1|NP_001269671.1|NP_110385.1	Q969R2	OSBP2_HUMAN	oxysterol binding protein 2	613					lipid transport	membrane	lipid binding			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1)	19						ACCGCCTCGACGACATGGGCC	0.662											OREG0026467	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	45					0	0	1	0	0	T	31286930	C	T	31286930	2	4	81	1	0	0	0	0	0	0	0	1	11321	535	19	1		1	OSBP2	22	31286930	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	167	31286930	20017636	14718	18334											
OSBP2	23762	broad.mit.edu	37	22	31289153	31289153	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:31289153G>A	ENST00000332585.6	+	9	2018	c.1914G>A	c.(1912-1914)aaG>aaA	p.K638K	OSBP2_ENST00000535268.1_Silent_p.K182K|OSBP2_ENST00000407373.1_Silent_p.K465K|OSBP2_ENST00000437268.2_Silent_p.K380K|OSBP2_ENST00000382310.3_Silent_p.K589K|OSBP2_ENST00000403222.3_Silent_p.K472K|OSBP2_ENST00000446658.2_Silent_p.K637K|OSBP2_ENST00000401475.1_Silent_p.K271K|OSBP2_ENST00000496575.1_Intron	NM_001282739.1|NM_001282740.1|NM_001282741.1|NM_001282742.1|NM_030758.3	NP_001269668.1|NP_001269669.1|NP_001269670.1|NP_001269671.1|NP_110385.1	Q969R2	OSBP2_HUMAN	oxysterol binding protein 2	638					lipid transport	membrane	lipid binding			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1)	19						TGTTCTCCAAGCATGGCTGGA	0.597													9	21					0	0	1	0	0	A	31289153	G	A	31289153	2	1	81	1	0	0	0	0	0	0	0	1	11321	962	34	2		2	OSBP2	22	31289153	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2223	31289153	20015413	14719	18335											
OSBP2	23762	broad.mit.edu	37	22	31302206	31302206	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:31302206G>A	ENST00000382310.3	+	12	2647	c.2611G>A	c.(2611-2613)Gcc>Acc	p.A871T	OSBP2_ENST00000535268.1_Silent_p.T421T|OSBP2_ENST00000407373.1_Silent_p.T704T|OSBP2_ENST00000437268.2_Silent_p.T620T|OSBP2_ENST00000403222.3_Silent_p.T711T|OSBP2_ENST00000446658.2_Silent_p.T876T|OSBP2_ENST00000401475.1_Silent_p.T510T|OSBP2_ENST00000332585.6_Silent_p.T877T			Q969R2	OSBP2_HUMAN	oxysterol binding protein 2	0					lipid transport	membrane	lipid binding			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1)	19						ATGCCTACACGCCACTGTGGT	0.647													4	50					0	0	1	0	0	A	31302206	G	A	31302206	3	1	81	1	0	0	0	0	1	0	0	0	11321	1074	38	1	2685	1	OSBP2	22	31302206	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	13053	31302206	20002360	14720	18336											
MORC2	22880	broad.mit.edu	37	22	31324094	31324094	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:31324094C>T	ENST00000397641.3	-	25	3350	c.2942G>A	c.(2941-2943)cGc>cAc	p.R981H	MORC2-AS1_ENST00000441558.1_RNA|MORC2_ENST00000215862.4_Missense_Mutation_p.R919H			Q9Y6X9	MORC2_HUMAN	MORC family CW-type zinc finger 2								ATP binding|zinc ion binding			breast(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	21						CTCGGAGGTGCGCAGGCTTTC	0.587													15	20					0	0	1	0	0	T	31324094	C	T	31324094	3	4	81	1	0	0	0	0	1	0	0	0	9751	768	27	1	164	1	MORC2	22	31324094	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	21888	31324094	19980472	14721	18337											
MORC2	22880	broad.mit.edu	37	22	31338136	31338136	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:31338136T>G	ENST00000397641.3	-	7	957	c.549A>C	c.(547-549)gaA>gaC	p.E183D	MORC2_ENST00000469915.1_5'UTR|MORC2_ENST00000215862.4_Missense_Mutation_p.E121D			Q9Y6X9	MORC2_HUMAN	MORC family CW-type zinc finger 2								ATP binding|zinc ion binding			breast(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	21						GGGTCATCACTTCCTCCTCAG	0.493													36	66					0	0	1	0	0	G	31338136	T	G	31338136	3	3	81	1	0	0	0	0	1	0	0	0	9751	1606	56	5	2629	5	MORC2	22	31338136	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	14042	31338136	19966430	14722	18338											
SMTN	6525	broad.mit.edu	37	22	31485987	31485987	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:31485987G>T	ENST00000333137.7	+	7	992	c.774G>T	c.(772-774)gaG>gaT	p.E258D	SMTN_ENST00000358743.1_Missense_Mutation_p.E258D|SMTN_ENST00000347557.2_Missense_Mutation_p.E258D	NM_001207018.1|NM_134269.2	NP_001193947.1|NP_599031.1	P53814	SMTN_HUMAN	smoothelin	258	Pro-rich.				muscle organ development|smooth muscle contraction	actin cytoskeleton|cytoplasm	actin binding|structural constituent of muscle			breast(2)|endometrium(2)|large_intestine(5)|lung(9)|ovary(3)|pancreas(1)|prostate(3)	25						CCAGCACTGAGGGCCAGGTGG	0.642													3	11					0.115264	0.117126	1	1	0	T	31485987	G	T	31485987	3	4	81	1	0	0	0	0	1	0	0	0	14868	991	35	4	796	4	SMTN	22	31485987	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	147851	31485987	19818579	14723	18339											
PLA2G3	50487	broad.mit.edu	37	22	31531876	31531876	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:31531876G>A	ENST00000215885.3	-	7	1615	c.1363C>T	c.(1363-1365)Cgg>Tgg	p.R455W		NM_015715.3	NP_056530.2	Q9NZ20	PA2G3_HUMAN	phospholipase A2, group III	455					cilium morphogenesis|lipid catabolic process|phospholipid metabolic process	centriole|extracellular space|plasma membrane	calcium ion binding|calcium-dependent phospholipase A2 activity			large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	18						TGAAGCCTCCGCAAGTGCCGG	0.582													21	47					0	0	1	0	0	A	31531876	G	A	31531876	3	1	81	1	0	0	0	0	1	0	0	0	12048	1086	38	1	170	1	PLA2G3	22	31531876	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	45889	31531876	19772690	14724	18340											
PLA2G3	50487	broad.mit.edu	37	22	31533810	31533810	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:31533810A>T	ENST00000215885.3	-	4	1204	c.952T>A	c.(952-954)Tcc>Acc	p.S318T		NM_015715.3	NP_056530.2	Q9NZ20	PA2G3_HUMAN	phospholipase A2, group III	318					cilium morphogenesis|lipid catabolic process|phospholipid metabolic process	centriole|extracellular space|plasma membrane	calcium ion binding|calcium-dependent phospholipase A2 activity			large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	18						GGGCGCTTGGACCCTTTCTGA	0.672													56	99					0	0	1	0	0	T	31533810	A	T	31533810	3	4	81	1	0	0	0	0	1	0	0	0	12048	275	10	5	593	5	PLA2G3	22	31533810	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	1934	31533810	19770756	14725	18341											
RNF185	91445	broad.mit.edu	37	22	31583084	31583084	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:31583084G>A	ENST00000326132.6	+	2	163	c.4G>A	c.(4-6)Gca>Aca	p.A2T	RNF185_ENST00000266252.7_Missense_Mutation_p.A2T|RNF185_ENST00000426256.2_5'UTR	NM_152267.3	NP_689480.2	Q96GF1	RN185_HUMAN	ring finger protein 185							integral to membrane	zinc ion binding			NS(1)|large_intestine(1)|lung(3)|skin(1)	6						GCCAAGGATGGCAAGCAAGGG	0.607													38	67					0	0	1	0	0	A	31583084	G	A	31583084	3	1	81	1	0	0	0	0	1	0	0	0	13520	1203	42	2	6	2	RNF185	22	31583084	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	49274	31583084	19721482	14726	18342											
LIMK2	3985	broad.mit.edu	37	22	31654373	31654373	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:31654373C>T	ENST00000331728.4	+	3	327	c.213C>T	c.(211-213)ttC>ttT	p.F71F	LIMK2_ENST00000406516.1_5'UTR|LIMK2_ENST00000444929.2_Intron|LIMK2_ENST00000333611.4_Silent_p.F50F|LIMK2_ENST00000340552.4_Silent_p.F50F	NM_005569.3	NP_005560.1	P53671	LIMK2_HUMAN	LIM domain kinase 2	71						mitochondrion|nucleus	ATP binding|protein serine/threonine kinase activity|zinc ion binding			endometrium(7)|kidney(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(4)|skin(1)	29						TTGGGGAGTTCTGTCATGGGT	0.517													30	35					0	0	1	0	0	T	31654373	C	T	31654373	2	4	81	1	0	0	0	0	0	0	0	1	8842	912	32	2		2	LIMK2	22	31654373	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	71289	31654373	19650193	14727	18343											
DRG1	4733	broad.mit.edu	37	22	31796681	31796681	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:31796681C>T	ENST00000331457.4	+	2	279	c.118C>T	c.(118-120)Cga>Tga	p.R40*	DRG1_ENST00000433341.1_3'UTR	NM_004147.3	NP_004138.1	Q9Y295	DRG1_HUMAN	developmentally regulated GTP binding protein 1	40					multicellular organismal development|transcription, DNA-dependent	cytoplasm|intermediate filament cytoskeleton|nucleus	GTP binding|transcription factor binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|urinary_tract(1)	11						TAAGCTTCGTCGAGAACTCAT	0.433													4	50					0	0	1	0	0	T	31796681	C	T	31796681	4	4	81	1	0	0	0	0	0	1	0	0	4787	876	31	1	124	1	DRG1	22	31796681	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	142308	31796681	19507885	14728	18344											
EIF4ENIF1	56478	broad.mit.edu	37	22	31858998	31858998	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:31858998G>T	ENST00000397525.1	-	6	930	c.707C>A	c.(706-708)aCt>aAt	p.T236N	RP11-247I13.8_ENST00000439588.1_RNA|RP11-247I13.11_ENST00000483736.1_RNA|EIF4ENIF1_ENST00000397523.1_Missense_Mutation_p.T236N|RP11-247I13.11_ENST00000464523.1_RNA|EIF4ENIF1_ENST00000344710.5_Intron|EIF4ENIF1_ENST00000330125.5_Missense_Mutation_p.T236N	NM_001164501.1	NP_001157973.1	Q9NRA8	4ET_HUMAN	eukaryotic translation initiation factor 4E nuclear import factor 1	236						nucleus	protein binding|protein transporter activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						ATCAAAGCCAGTCAGTTCGAT	0.453													4	53					2.56e-06	2.92664e-06	1	1	0	T	31858998	G	T	31858998	3	4	81	1	0	0	0	0	1	0	0	0	5063	1029	36	4	2309	4	EIF4ENIF1	22	31858998	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	62317	31858998	19445568	14729	18345											
SFI1	9814	broad.mit.edu	37	22	31976257	31976257	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:31976257G>A	ENST00000443326.1	+	10	1302		c.e10-1		SFI1_ENST00000400288.2_Splice_Site|SFI1_ENST00000432498.1_Intron|SFI1_ENST00000540643.1_Intron|SFI1_ENST00000400289.1_Splice_Site|SFI1_ENST00000414585.1_Splice_Site|SFI1_ENST00000443011.1_Splice_Site	NM_001258326.1|NM_001258327.1	NP_001245255.1|NP_001245256.1	A8K8P3	SFI1_HUMAN	Sfi1 homolog, spindle assembly associated (yeast)						G2/M transition of mitotic cell cycle	centriole|cytosol				NS(2)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)	38						TCTTTGCACAGTATTTTTGCT	0.468													13	15					0	0	1	0	0	A	31976257	G	A	31976257	5	1	81	1	0	0	0	0	0	0	1	0	14210	1043	36	2	1197	2	SFI1	22	31976257	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	117259	31976257	19328309	14730	18346											
PISD	23761	broad.mit.edu	37	22	32016586	32016586	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:32016586C>T	ENST00000382151.2	-	7	1275	c.856G>A	c.(856-858)Gct>Act	p.A286T	PISD_ENST00000397500.1_Intron|PISD_ENST00000439502.2_Missense_Mutation_p.A320T|PISD_ENST00000478893.1_5'UTR|PISD_ENST00000266095.5_Missense_Mutation_p.A286T|PISD_ENST00000336566.4_Missense_Mutation_p.A319T			Q9UG56	PISD_HUMAN	phosphatidylserine decarboxylase	320					phospholipid biosynthetic process	mitochondrion	phosphatidylserine decarboxylase activity			central_nervous_system(3)|endometrium(2)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)	12					Phosphatidylserine(DB00144)	GCCCCCACAGCTGTCAGTGAG	0.582													3	36					0	0	1	0	0	T	32016586	C	T	32016586	3	4	81	1	0	0	0	0	1	0	0	0	11994	797	28	2	279	2	PISD	22	32016586	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	40329	32016586	19287980	14731	18347											
DEPDC5	9681	broad.mit.edu	37	22	32242867	32242867	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:32242867G>A	ENST00000400246.1	+	31	3211	c.3069G>A	c.(3067-3069)acG>acA	p.T1023T	DEPDC5_ENST00000382105.2_Silent_p.T945T|DEPDC5_ENST00000400249.2_Silent_p.T1014T|DEPDC5_ENST00000266091.3_Silent_p.T1023T|DEPDC5_ENST00000382112.3_Silent_p.T1014T|DEPDC5_ENST00000400248.2_Silent_p.T1014T|DEPDC5_ENST00000535622.1_Silent_p.T945T|DEPDC5_ENST00000382111.2_Silent_p.T1023T			O75140	DEPD5_HUMAN	DEP domain containing 5	1014					intracellular signal transduction					breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						CCATTTCCACGCATTCTCTGG	0.552													7	61					0	0	1	0	0	A	32242867	G	A	32242867	2	1	81	1	0	0	0	0	0	0	0	1	4470	1074	38	1		1	DEPDC5	22	32242867	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	226281	32242867	19061699	14732	18348											
SLC5A1	6523	broad.mit.edu	37	22	32482206	32482207	+	Splice_Site	INS	-	-	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:32482206_32482207insA	ENST00000266088.4	+	10	1271_1272		c.e10-1		SLC5A1_ENST00000543737.1_Splice_Site	NM_000343.3	NP_000334.1	P13866	SC5A1_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 1						carbohydrate metabolic process	integral to plasma membrane	glucose:sodium symporter activity|protein binding			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	37						TCTCTTCCCAGAAAAAATTGCC	0.446													75	127	---	---	---	---						A	32482207	-	A	32482206	8	5	81	1	0	1	1	0	0	0	1	0	14716	956	33	0	1059	0	SLC5A1	22	32482206	Splice_Site	INS	-	TCGA-DU-6392-01A-11D-1705-08	239339	32482206	18822360	14733	18349											
RFPL3	10738	broad.mit.edu	37	22	32754246	32754246	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:32754246G>A	ENST00000249007.4	+	1	393	c.188G>A	c.(187-189)tGc>tAc	p.C63Y	RFPL3_ENST00000382088.3_Missense_Mutation_p.C34Y|RFPL3_ENST00000397468.1_Missense_Mutation_p.C34Y	NM_001098535.1	NP_001092005.1	O75679	RFPL3_HUMAN	ret finger protein-like 3	63							zinc ion binding			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|stomach(1)	15						TGCCTCAAGTGCATCAATTCG	0.532													28	51					0	0	1	0	0	A	32754246	G	A	32754246	3	1	81	1	0	0	0	0	1	0	0	0	13307	1319	46	2	190	2	RFPL3	22	32754246	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	272040	32754246	18550320	14734	18350											
FBXO7	25793	broad.mit.edu	37	22	32875191	32875191	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:32875191C>T	ENST00000266087.7	+	2	673	c.346C>T	c.(346-348)Cag>Tag	p.Q116*	FBXO7_ENST00000465418.1_3'UTR|FBXO7_ENST00000397426.1_Nonsense_Mutation_p.Q2*|FBXO7_ENST00000382058.3_Nonsense_Mutation_p.Q37*	NM_012179.3	NP_036311.3	Q9Y3I1	FBX7_HUMAN	F-box protein 7	116					cell death|regulation of protein stability|ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GACTAGCATGCAGGATGAACA	0.448													15	78					0	0	1	0	0	T	32875191	C	T	32875191	4	4	81	1	0	0	0	0	0	1	0	0	5793	711	25	2	393	2	FBXO7	22	32875191	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	120945	32875191	18429375	14735	18351											
TIMP3	7078	broad.mit.edu	37	22	33255339	33255339	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:33255339G>A	ENST00000266085.6	+	5	912	c.611G>A	c.(610-612)aGc>aAc	p.S204N	SYN3_ENST00000358763.2_Intron|SYN3_ENST00000332840.5_Intron	NM_000362.4	NP_000353.1	P35625	TIMP3_HUMAN	TIMP metallopeptidase inhibitor 3	204			S -> C (in SFD).		negative regulation of membrane protein ectodomain proteolysis|visual perception		metal ion binding|metalloendopeptidase inhibitor activity|protein binding			endometrium(2)|large_intestine(3)|lung(1)|urinary_tract(1)	7						CCGGATAAAAGCATCATCAAT	0.592													6	9					0	0	1	0	0	A	33255339	G	A	33255339	3	1	81	1	0	0	0	0	1	0	0	0	15979	971	34	2	629	2	TIMP3	22	33255339	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	380148	33255339	18049227	14736	18352											
SYN3	8224	broad.mit.edu	37	22	33402448	33402448	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:33402448A>G	ENST00000358763.2	-	2	442	c.200T>C	c.(199-201)aTg>aCg	p.M67T	SYN3_ENST00000332840.5_Missense_Mutation_p.M67T	NM_001135774.1	NP_001129246.1	O14994	SYN3_HUMAN	synapsin III	67	B; linker.				neurotransmitter secretion	cell junction|synaptic vesicle membrane	ATP binding|ligase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						GGCCTGCTTCATGGCACTGGA	0.617													12	83					0	0	1	0	0	G	33402448	A	G	33402448	3	3	81	1	0	0	0	0	1	0	0	0	15499	217	8	3	1594	3	SYN3	22	33402448	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	147109	33402448	17902118	14737	18353											
LARGE	9215	broad.mit.edu	37	22	34046551	34046551	+	Silent	SNP	G	G	A	rs145048151	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:34046551G>A	ENST00000354992.2	-	4	781	c.210C>T	c.(208-210)cgC>cgT	p.R70R	LARGE_ENST00000397394.2_Silent_p.R70R|LARGE_ENST00000402320.1_Silent_p.R70R|LARGE_ENST00000437602.2_Silent_p.R70R|LARGE_ENST00000337431.2_Silent_p.R70R	NM_004737.4	NP_004728.1	O95461	LARGE_HUMAN	like-glycosyltransferase	70					glycosphingolipid biosynthetic process|muscle cell homeostasis|N-acetylglucosamine metabolic process|protein glycosylation	integral to Golgi membrane	acetylglucosaminyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(1;0.219)				CCTCCACCTCGCGCATGCGCA	0.692													7	56					0	0	1	0	0	A	34046551	G	A	34046551	2	1	81	1	0	0	0	0	0	0	0	1	8666	1074	38	1		1	LARGE	22	34046551	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	644103	34046551	17258015	14738	18354											
TOM1	10043	broad.mit.edu	37	22	35726441	35726441	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:35726441C>T	ENST00000382034.5	+	9	1008	c.666C>T	c.(664-666)gaC>gaT	p.D222D	TOM1_ENST00000436462.2_Silent_p.D251D|TOM1_ENST00000411850.1_Silent_p.D289D|TOM1_ENST00000447733.1_Silent_p.D256D|TOM1_ENST00000449058.2_Silent_p.D289D|TOM1_ENST00000425375.1_Silent_p.D244D			O60784	TOM1_HUMAN	target of myb1 (chicken)	289	GAT.				endocytosis|endosome transport|intracellular protein transport	cytosol|early endosome|membrane	protein binding			NS(1)|breast(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2)	19						TCGTCAATGACAATCTCAACA	0.602													6	93					0	0	1	0	0	T	35726441	C	T	35726441	2	4	81	1	0	0	0	0	0	0	0	1	16411	477	17	2		2	TOM1	22	35726441	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1679890	35726441	15578125	14739	18355											
TOM1	10043	broad.mit.edu	37	22	35741775	35741775	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:35741775G>A	ENST00000411850.1	+	13	1407	c.1282G>A	c.(1282-1284)Gtg>Atg	p.V428M	TOM1_ENST00000436462.2_Missense_Mutation_p.V390M|TOM1_ENST00000447733.1_Missense_Mutation_p.V395M|TOM1_ENST00000449058.2_Missense_Mutation_p.V428M|TOM1_ENST00000382034.5_3'UTR|TOM1_ENST00000425375.1_Missense_Mutation_p.V383M	NM_001135732.1	NP_001129204.1	O60784	TOM1_HUMAN	target of myb1 (chicken)	428					endocytosis|endosome transport|intracellular protein transport	cytosol|early endosome|membrane	protein binding			NS(1)|breast(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2)	19						GTCCACTGACGTGGTATGTTG	0.567													4	46					0	0	1	0	0	A	35741775	G	A	35741775	3	1	81	1	0	0	0	0	1	0	0	0	16411	1145	40	1	1332	1	TOM1	22	35741775	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	15334	35741775	15562791	14740	18356											
MCM5	4174	broad.mit.edu	37	22	35819225	35819225	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:35819225G>A	ENST00000216122.4	+	16	2148	c.1994G>A	c.(1993-1995)aGc>aAc	p.S665N	MCM5_ENST00000382011.5_Missense_Mutation_p.S622N	NM_006739.3	NP_006730.2	P33992	MCM5_HUMAN	minichromosome maintenance complex component 5	665					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|DNA binding|helicase activity|protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29						GGCTTCACCAGCCAGGAGGAC	0.602													7	48					0	0	1	0	0	A	35819225	G	A	35819225	3	1	81	1	0	0	0	0	1	0	0	0	9440	971	34	2	2052	2	MCM5	22	35819225	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	77450	35819225	15485341	14741	18357											
RASD2	23551	broad.mit.edu	37	22	35947819	35947819	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:35947819G>A	ENST00000216127.4	+	3	1183	c.541G>A	c.(541-543)Gag>Aag	p.E181K		NM_014310.3	NP_055125.2	Q96D21	RHES_HUMAN	RASD family, member 2	181					locomotory behavior|positive regulation of protein kinase B signaling cascade|positive regulation of protein sumoylation|regulation of cAMP-mediated signaling	intracellular|plasma membrane	G-protein beta-subunit binding|GTP binding|GTPase activity			endometrium(2)|large_intestine(1)|lung(8)|prostate(1)|skin(1)	13						CAACGTGGACGAGATGTTCTA	0.632													15	12					0	0	1	0	0	A	35947819	G	A	35947819	3	1	81	1	0	0	0	0	1	0	0	0	13119	1059	37	1	547	1	RASD2	22	35947819	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	128594	35947819	15356747	14742	18358											
RASD2	23551	broad.mit.edu	37	22	35948047	35948047	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:35948047G>A	ENST00000216127.4	+	3	1411	c.769G>A	c.(769-771)Gcc>Acc	p.A257T		NM_014310.3	NP_055125.2	Q96D21	RHES_HUMAN	RASD family, member 2	257					locomotory behavior|positive regulation of protein kinase B signaling cascade|positive regulation of protein sumoylation|regulation of cAMP-mediated signaling	intracellular|plasma membrane	G-protein beta-subunit binding|GTP binding|GTPase activity			endometrium(2)|large_intestine(1)|lung(8)|prostate(1)|skin(1)	13						GGAAGGCCAGGCCCGTGAGAG	0.657													21	40					0	0	1	0	0	A	35948047	G	A	35948047	3	1	81	1	0	0	0	0	1	0	0	0	13119	1203	42	2	775	2	RASD2	22	35948047	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	228	35948047	15356519	14743	18359											
APOL5	80831	broad.mit.edu	37	22	36122598	36122598	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:36122598G>A	ENST00000249044.2	+	3	483	c.483G>A	c.(481-483)gtG>gtA	p.V161V		NM_030642.1	NP_085145.1	Q9BWW9	APOL5_HUMAN	apolipoprotein L, 5	161					lipid metabolic process|lipid transport|lipoprotein metabolic process	cytoplasm|extracellular region	high-density lipoprotein particle binding|lipid binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|skin(2)|urinary_tract(1)	19						TAGCACCTGTGACAGCAGGAG	0.542													29	57					0	0	1	0	0	A	36122598	G	A	36122598	2	1	81	1	0	0	0	0	0	0	0	1	806	1277	45	2		2	APOL5	22	36122598	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	174551	36122598	15181968	14744	18360											
APOL5	80831	broad.mit.edu	37	22	36122838	36122838	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:36122838G>T	ENST00000249044.2	+	3	723	c.723G>T	c.(721-723)aaG>aaT	p.K241N		NM_030642.1	NP_085145.1	Q9BWW9	APOL5_HUMAN	apolipoprotein L, 5	241					lipid metabolic process|lipid transport|lipoprotein metabolic process	cytoplasm|extracellular region	high-density lipoprotein particle binding|lipid binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|skin(2)|urinary_tract(1)	19						AGGGCATCAAGGATCTTCATG	0.458													19	154					1.67942e-08	2.00033e-08	1	1	0	T	36122838	G	T	36122838	3	4	81	1	0	0	0	0	1	0	0	0	806	991	35	4	733	4	APOL5	22	36122838	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	240	36122838	15181728	14745	18361											
APOL1	8542	broad.mit.edu	37	22	36661287	36661287	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:36661287G>A	ENST00000319136.4	+	7	720	c.453G>A	c.(451-453)caG>caA	p.Q151Q	APOL1_ENST00000347595.7_Silent_p.Q14Q|APOL1_ENST00000397279.4_Silent_p.Q135Q|APOL1_ENST00000422706.1_Silent_p.Q135Q|APOL1_ENST00000397278.3_Silent_p.Q135Q|APOL1_ENST00000440669.2_3'UTR|APOL1_ENST00000426053.1_Silent_p.Q117Q	NM_145343.2	NP_663318.1	O14791	APOL1_HUMAN	apolipoprotein L, 1	135					cholesterol metabolic process|cytolysis|innate immune response|killing of cells of other organism|lipid transport|lipoprotein metabolic process	high-density lipoprotein particle|very-low-density lipoprotein particle	chloride channel activity|lipid binding|protein binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	14						AAGGCCAGCAGTACAGAAACT	0.473													25	42					0	0	1	0	0	A	36661287	G	A	36661287	2	1	81	1	0	0	0	0	0	0	0	1	802	1020	36	2		2	APOL1	22	36661287	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	538449	36661287	14643279	14746	18362											
MYH9	4627	broad.mit.edu	37	22	36684352	36684352	+	Silent	SNP	G	G	A	rs143947828	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:36684352G>A	ENST00000216181.5	-	34	5108	c.4878C>T	c.(4876-4878)atC>atT	p.I1626I		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	1626			I -> V (in dbSNP:rs2269529).		actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						TGGCCGAGTCGATGTGCGCCT	0.647			T	ALK	ALCL		"Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"		Hereditary Macrothrombocytopenia, MYH9-associated				50	70					0	0	1	0	0	A	36684352	G	A	36684352	2	1	81	1	0	0	0	0	0	0	0	1	10090	1048	37	1		1	MYH9	22	36684352	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	23065	36684352	14620214	14747	18363											
MYH9	4627	broad.mit.edu	37	22	36697595	36697595	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:36697595C>T	ENST00000216181.5	-	21	2846	c.2616G>A	c.(2614-2616)gaG>gaA	p.E872E		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	872					actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						ACTGCAGCGTCTCCATCTCCG	0.637			T	ALK	ALCL		"Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"		Hereditary Macrothrombocytopenia, MYH9-associated		OREG0026520	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	19					0	0	1	0	0	T	36697595	C	T	36697595	2	4	81	1	0	0	0	0	0	0	0	1	10090	912	32	2		2	MYH9	22	36697595	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	13243	36697595	14606971	14748	18364											
MYH9	4627	broad.mit.edu	37	22	36716362	36716362	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:36716362A>G	ENST00000216181.5	-	9	1145	c.915T>C	c.(913-915)aaT>aaC	p.N305N		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	305	Myosin head-like.				actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						TGACGTGTCCATTGGACAGGA	0.577			T	ALK	ALCL		"Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"		Hereditary Macrothrombocytopenia, MYH9-associated				7	92					0	0	1	0	0	G	36716362	A	G	36716362	2	3	81	1	0	0	0	0	0	0	0	1	10090	214	8	3		3	MYH9	22	36716362	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	18767	36716362	14588204	14749	18365											
CACNG2	10369	broad.mit.edu	37	22	36983581	36983581	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:36983581G>T	ENST00000300105.6	-	2	1207	c.226C>A	c.(226-228)Ctg>Atg	p.L76M		NM_006078.3	NP_006069.1	Q9Y698	CCG2_HUMAN	calcium channel, voltage-dependent, gamma subunit 2	76					membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	18						TGCTTGCACAGACCTTTGAAA	0.483													40	74					1.00001e-27	1.32875e-27	1	1	0	T	36983581	G	T	36983581	3	4	81	1	0	0	0	0	1	0	0	0	2575	933	33	4	757	4	CACNG2	22	36983581	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	267219	36983581	14320985	14750	18366											
MPST	4357	broad.mit.edu	37	22	37425477	37425477	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:37425477C>T	ENST00000397225.2	+	3	1731	c.816C>T	c.(814-816)taC>taT	p.Y272Y	MPST_ENST00000404802.3_Silent_p.Y272Y|MPST_ENST00000429360.2_Silent_p.Y272Y|MPST_ENST00000404393.1_3'UTR|MPST_ENST00000401419.3_Silent_p.Y272Y|MPST_ENST00000341116.3_Silent_p.Y272Y|MPST_ENST00000397129.1_Silent_p.Y292Y			P25325	THTM_HUMAN	mercaptopyruvate sulfurtransferase	272	Rhodanese 2.				cyanate catabolic process|response to toxin		3-mercaptopyruvate sulfurtransferase activity|thiosulfate sulfurtransferase activity			central_nervous_system(2)|kidney(1)|lung(2)|prostate(1)|skin(1)	7						TGCCCATCTACGATGGCTCCT	0.657													12	17					0	0	1	0	0	T	37425477	C	T	37425477	2	4	81	1	0	0	0	0	0	0	0	1	9793	547	19	1		1	MPST	22	37425477	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	441896	37425477	13879089	14751	18367											
TMPRSS6	164656	broad.mit.edu	37	22	37462235	37462235	+	Missense_Mutation	SNP	C	C	T	rs34971651		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:37462235C>T	ENST00000381792.2	-	19	2500	c.2360G>A	c.(2359-2361)cGc>cAc	p.R787H	TMPRSS6_ENST00000406725.1_Missense_Mutation_p.R765H|TMPRSS6_ENST00000346753.3_Missense_Mutation_p.R774H|TMPRSS6_ENST00000406856.1_Missense_Mutation_p.R787H			Q8IU80	TMPS6_HUMAN	transmembrane protease, serine 6	774	Peptidase S1.				angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis	integral to membrane|intracellular|plasma membrane	serine-type endopeptidase activity			breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						CAGGAACCAGCGGCCACTGAG	0.627													6	14					0	0	1	0	0	T	37462235	C	T	37462235	3	4	81	1	0	0	0	0	1	0	0	0	16311	768	27	1	118	1	TMPRSS6	22	37462235	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	36758	37462235	13842331	14752	18368											
TMPRSS6	164656	broad.mit.edu	37	22	37499319	37499319	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:37499319G>A	ENST00000381792.2	-	2	279	c.139C>T	c.(139-141)Ctg>Ttg	p.L47L	TMPRSS6_ENST00000406725.1_Silent_p.L47L|TMPRSS6_ENST00000346753.3_Silent_p.L56L|TMPRSS6_ENST00000442782.2_Silent_p.L56L|TMPRSS6_ENST00000406856.1_Silent_p.L47L			Q8IU80	TMPS6_HUMAN	transmembrane protease, serine 6	56					angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis	integral to membrane|intracellular|plasma membrane	serine-type endopeptidase activity			breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						AGCACAAACAGGGGCACCAGG	0.652													19	39					0	0	1	0	0	A	37499319	G	A	37499319	2	1	81	1	0	0	0	0	0	0	0	1	16311	991	35	2		2	TMPRSS6	22	37499319	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	37084	37499319	13805247	14753	18369											
C1QTNF6	114904	broad.mit.edu	37	22	37578569	37578569	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:37578569C>T	ENST00000337843.2	-	3	571	c.496G>A	c.(496-498)Gaa>Aaa	p.E166K	C1QTNF6_ENST00000397110.2_Missense_Mutation_p.E166K|RP1-151B14.6_ENST00000419128.1_RNA|C1QTNF6_ENST00000470655.1_5'UTR|C1QTNF6_ENST00000255836.6_Missense_Mutation_p.E42K	NM_031910.3	NP_114116.3	Q9BXI9	C1QT6_HUMAN	C1q and tumor necrosis factor related protein 6	147	C1q.					collagen		p.E166K(1)		breast(1)|large_intestine(2)|lung(6)|stomach(1)|upper_aerodigestive_tract(1)	11						AAGACCCTTTCGAAGAGCAGC	0.622													18	36					0	0	1	0	0	T	37578569	C	T	37578569	3	4	81	1	0	0	0	0	1	0	0	0	1980	893	31	1	344	1	C1QTNF6	22	37578569	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	79250	37578569	13725997	14754	18370											
SSTR3	6753	broad.mit.edu	37	22	37603286	37603286	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:37603286C>T	ENST00000328544.3	-	2	1090	c.557G>A	c.(556-558)cGc>cAc	p.R186H	SSTR3_ENST00000402501.1_Missense_Mutation_p.R186H	NM_001051.3	NP_001042.1	P32745	SSR3_HUMAN	somatostatin receptor 3	186					G-protein signaling, coupled to cyclic nucleotide second messenger|induction of apoptosis by hormones|negative regulation of cell proliferation	integral to plasma membrane|nonmotile primary cilium	somatostatin receptor activity			NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)	14						GCTCATGCCGCGGGGCACTCC	0.726													4	8					0	0	1	0	0	T	37603286	C	T	37603286	3	4	81	1	0	0	0	0	1	0	0	0	15255	768	27	1	703	1	SSTR3	22	37603286	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	24717	37603286	13701280	14755	18371											
ELFN2	114794	broad.mit.edu	37	22	37769952	37769952	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:37769952C>A	ENST00000402918.2	-	3	2408	c.1623G>T	c.(1621-1623)gtG>gtT	p.V541V	RP1-63G5.5_ENST00000430883.1_RNA	NM_052906.3	NP_443138.2	Q5R3F8	LRFN6_HUMAN	extracellular leucine-rich repeat and fibronectin type III domain containing 2							cell surface|integral to membrane				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	35	Melanoma(58;0.0574)					TGACCTTGTCCACCTCCTTGG	0.642													6	91					0.00116845	0.00124301	1	1	0	A	37769952	C	A	37769952	2	1	81	1	0	0	0	0	0	0	0	1	5086	581	21	5		5	ELFN2	22	37769952	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	166666	37769952	13534614	14756	18372											
ELFN2	114794	broad.mit.edu	37	22	37770817	37770817	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:37770817C>T	ENST00000402918.2	-	3	1543	c.758G>A	c.(757-759)cGg>cAg	p.R253Q	RP1-63G5.5_ENST00000430883.1_RNA	NM_052906.3	NP_443138.2	Q5R3F8	LRFN6_HUMAN	extracellular leucine-rich repeat and fibronectin type III domain containing 2							cell surface|integral to membrane				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	35	Melanoma(58;0.0574)					GCTCACGGGCCGGGCGGGCAG	0.687													16	20					0	0	1	0	0	T	37770817	C	T	37770817	3	4	81	1	0	0	0	0	1	0	0	0	5086	652	23	1	1708	1	ELFN2	22	37770817	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	865	37770817	13533749	14757	18373											
ELFN2	114794	broad.mit.edu	37	22	37770993	37770993	+	Silent	SNP	G	G	A	rs146700910	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:37770993G>A	ENST00000402918.2	-	3	1367	c.582C>T	c.(580-582)ttC>ttT	p.F194F	RP1-63G5.5_ENST00000430883.1_RNA	NM_052906.3	NP_443138.2	Q5R3F8	LRFN6_HUMAN	extracellular leucine-rich repeat and fibronectin type III domain containing 2		LRRCT.					cell surface|integral to membrane				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	35	Melanoma(58;0.0574)					CCAGGAAGCCGAAGAGGTCGC	0.647													13	19					0	0	1	0	0	A	37770993	G	A	37770993	2	1	81	1	0	0	0	0	0	0	0	1	5086	1049	37	1		1	ELFN2	22	37770993	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	176	37770993	13533573	14758	18374											
ELFN2	114794	broad.mit.edu	37	22	37771272	37771272	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:37771272G>A	ENST00000402918.2	-	3	1088	c.303C>T	c.(301-303)ggC>ggT	p.G101G	RP1-63G5.5_ENST00000430883.1_RNA	NM_052906.3	NP_443138.2	Q5R3F8	LRFN6_HUMAN	extracellular leucine-rich repeat and fibronectin type III domain containing 2							cell surface|integral to membrane				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	35	Melanoma(58;0.0574)					GGCTCGACTGGCCCAGGAAGG	0.602													5	32					0	0	1	0	0	A	37771272	G	A	37771272	2	1	81	1	0	0	0	0	0	0	0	1	5086	1190	42	2		2	ELFN2	22	37771272	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	279	37771272	13533294	14759	18375											
SH3BP1	23616	broad.mit.edu	37	22	38046569	38046569	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:38046569G>T	ENST00000599616.1	+	14	1243	c.1243G>T	c.(1243-1245)Ggc>Tgc	p.G415C	SH3BP1_ENST00000442465.2_3'UTR|Z83844.1_ENST00000456099.1_RNA|SH3BP1_ENST00000357436.4_Missense_Mutation_p.G479C			Q9Y3L3	3BP1_HUMAN	SH3-domain binding protein 1	479	Rho-GAP.				signal transduction	cytoplasm	GTPase activator activity|SH3 domain binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	Melanoma(58;0.0574)					CAACGTGTCAGGCCTCTTCTC	0.632													19	29					3.62473e-10	4.42231e-10	1	1	0	T	38046569	G	T	38046569	3	4	81	1	0	0	0	0	1	0	0	0	14298	1000	35	4	1497	4	SH3BP1	22	38046569	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	275297	38046569	13257997	14760	18376											
TRIOBP	11078	broad.mit.edu	37	22	38120281	38120281	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:38120281A>G	ENST00000406386.3	+	7	1973	c.1718A>G	c.(1717-1719)gAc>gGc	p.D573G		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	573					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho 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)					GCCACACGAGACAACCCCAGA	0.587													12	74					0	0	1	0	0	G	38120281	A	G	38120281	3	3	81	1	0	0	0	0	1	0	0	0	16614	275	10	3	1736	3	TRIOBP	22	38120281	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	73712	38120281	13184285	14761	18377											
GCAT	23464	broad.mit.edu	37	22	38211691	38211691	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:38211691G>A	ENST00000323205.6	+	7	977	c.914G>A	c.(913-915)gGg>gAg	p.G305E	GCAT_ENST00000248924.6_Missense_Mutation_p.G279E	NM_001171690.1	NP_001165161.1	O75600	KBL_HUMAN	glycine C-acetyltransferase	279					biosynthetic process|cellular amino acid metabolic process		glycine C-acetyltransferase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	12	Melanoma(58;0.045)				Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	ACAGGGCCTGGGCCCCTGGTG	0.657													33	76					0	0	1	0	0	A	38211691	G	A	38211691	3	1	81	1	0	0	0	0	1	0	0	0	6324	1232	43	2	940	2	GCAT	22	38211691	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	91410	38211691	13092875	14762	18378											
ANKRD54	129138	broad.mit.edu	37	22	38228688	38228688	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:38228688C>T	ENST00000215941.4	-	7	976	c.784G>A	c.(784-786)Gat>Aat	p.D262N	ANKRD54_ENST00000609454.1_Missense_Mutation_p.D69N|ANKRD54_ENST00000411961.2_Missense_Mutation_p.D246N|ANKRD54_ENST00000498417.1_5'UTR|ANKRD54_ENST00000406423.1_Missense_Mutation_p.D142N	NM_138797.2	NP_620152.1	Q6NXT1	ANR54_HUMAN	ankyrin repeat domain 54	262										lung(1)	1	Melanoma(58;0.045)					CAGAGGTCATCCAGGCGTTCT	0.612													8	41					0	0	1	0	0	T	38228688	C	T	38228688	3	4	81	1	0	0	0	0	1	0	0	0	674	855	30	2	126	2	ANKRD54	22	38228688	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	16997	38228688	13075878	14763	18379											
MICALL1	85377	broad.mit.edu	37	22	38333770	38333770	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:38333770A>C	ENST00000215957.6	+	15	2567	c.2441A>C	c.(2440-2442)aAg>aCg	p.K814T	MICALL1_ENST00000402631.1_3'UTR	NM_033386.3	NP_203744.1	Q8N3F8	MILK1_HUMAN	MICAL-like 1	814						cytoplasm|cytoskeleton	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	24	Melanoma(58;0.045)					GAGGAAGACAAGATGTTGGAA	0.547													51	106					0	0	1	0	0	C	38333770	A	C	38333770	3	2	81	1	0	0	0	0	1	0	0	0	9621	72	3	5	2499	5	MICALL1	22	38333770	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	105082	38333770	12970796	14764	18380											
BAIAP2L2	80115	broad.mit.edu	37	22	38493048	38493048	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:38493048G>T	ENST00000381669.3	-	7	747	c.603C>A	c.(601-603)ttC>ttA	p.F201L	BAIAP2L2_ENST00000332536.5_Missense_Mutation_p.F201L	NM_025045.4	NP_079321.3	Q6UXY1	BI2L2_HUMAN	BAI1-associated protein 2-like 2	201	IMD.				filopodium assembly|signal transduction		cytoskeletal adaptor activity|SH3 domain binding			large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)	8	Melanoma(58;0.045)					CCCGGCCGAAGAACTGCAGGA	0.602													5	12					0.014758	0.0152304	1	1	0	T	38493048	G	T	38493048	3	4	81	1	0	0	0	0	1	0	0	0	1301	933	33	4	1018	4	BAIAP2L2	22	38493048	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	159278	38493048	12811518	14765	18381											
PLA2G6	8398	broad.mit.edu	37	22	38516781	38516781	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:38516781T>C	ENST00000332509.3	-	12	1910	c.1727A>G	c.(1726-1728)gAc>gGc	p.D576G	PLA2G6_ENST00000402064.1_Missense_Mutation_p.D522G|PLA2G6_ENST00000335539.3_Missense_Mutation_p.D522G	NM_003560.2	NP_003551.2	O60733	PA2G6_HUMAN	phospholipase A2, group VI (cytosolic, calcium-independent)	576					cardiolipin biosynthetic process|cell death|lipid catabolic process	centrosome|membrane				breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	24	Melanoma(58;0.045)				Quinacrine(DB01103)	TTTCCTGACGTCCGTCATCTT	0.652													32	55					0	0	1	0	0	C	38516781	T	C	38516781	3	2	81	1	0	0	0	0	1	0	0	0	12056	1667	58	3	717	3	PLA2G6	22	38516781	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	23733	38516781	12787785	14766	18382											
PLA2G6	8398	broad.mit.edu	37	22	38539144	38539144	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:38539144C>T	ENST00000332509.3	-	4	760	c.577G>A	c.(577-579)Gct>Act	p.A193T	PLA2G6_ENST00000436218.1_Intron|PLA2G6_ENST00000402064.1_Missense_Mutation_p.A193T|PLA2G6_ENST00000335539.3_Missense_Mutation_p.A193T	NM_003560.2	NP_003551.2	O60733	PA2G6_HUMAN	phospholipase A2, group VI (cytosolic, calcium-independent)	193					cardiolipin biosynthetic process|cell death|lipid catabolic process	centrosome|membrane				breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	24	Melanoma(58;0.045)				Quinacrine(DB01103)	CCCTGGACAGCATAATGGAAG	0.597													117	192					0	0	1	0	0	T	38539144	C	T	38539144	3	4	81	1	0	0	0	0	1	0	0	0	12056	710	25	2	1899	2	PLA2G6	22	38539144	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	22363	38539144	12765422	14767	18383											
TMEM184B	25829	broad.mit.edu	37	22	38617604	38617604	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:38617604G>A	ENST00000361906.3	-	9	1304	c.1096C>T	c.(1096-1098)Cag>Tag	p.Q366*	TMEM184B_ENST00000504337.1_5'UTR|TMEM184B_ENST00000361684.4_Nonsense_Mutation_p.Q366*	NM_001195072.1|NM_012264.4	NP_001182001.1|NP_036396.2	Q9Y519	T184B_HUMAN	transmembrane protein 184B	366				Q -> L (in Ref. 9; BAC11607).		integral to membrane				endometrium(1)|large_intestine(2)|lung(2)|skin(2)|upper_aerodigestive_tract(1)	8	Melanoma(58;0.045)					GTGGACTGCTGCGTGTACTGC	0.642													24	25					0	0	1	0	0	A	38617604	G	A	38617604	4	1	81	1	0	0	0	0	0	1	0	0	16165	1328	46	2	131	2	TMEM184B	22	38617604	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	78460	38617604	12686962	14768	18384											
CSNK1E	1454	broad.mit.edu	37	22	38690147	38690147	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:38690147G>A	ENST00000396832.1	-	9	1446	c.1186C>T	c.(1186-1188)Cgg>Tgg	p.R396W	CSNK1E_ENST00000359867.3_Missense_Mutation_p.R396W|CSNK1E_ENST00000400206.2_Missense_Mutation_p.R396W|CSNK1E_ENST00000403904.1_Missense_Mutation_p.R396W	NM_152221.2	NP_689407.1	P49674	KC1E_HUMAN	casein kinase 1, epsilon	396					DNA repair|G2/M transition of mitotic cell cycle|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|signal transduction	cytosol|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22	Melanoma(58;0.045)					ACCTCTTGCCGCCCAGTGAGG	0.652													6	10					0	0	1	0	0	A	38690147	G	A	38690147	3	1	81	1	0	0	0	0	1	0	0	0	3978	1086	38	1	72	1	CSNK1E	22	38690147	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	72543	38690147	12614419	14769	18385											
KCNJ4	3761	broad.mit.edu	37	22	38823262	38823262	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:38823262G>A	ENST00000303592.3	-	2	1134	c.876C>T	c.(874-876)ggC>ggT	p.G292G	RP3-434P1.6_ENST00000433230.1_RNA	NM_004981.1|NM_152868.2	NP_004972.1|NP_690607.1	P48050	IRK4_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 4	292					synaptic transmission	basolateral plasma membrane|voltage-gated potassium channel complex	inward rectifier potassium channel activity|PDZ domain binding			endometrium(7)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	23	Melanoma(58;0.0286)					CCTCCACCATGCCCTCCAGGA	0.617													6	17					0	0	1	0	0	A	38823262	G	A	38823262	2	1	81	1	0	0	0	0	0	0	0	1	8097	1306	46	2		2	KCNJ4	22	38823262	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	133115	38823262	12481304	14770	18386											
DMC1	11144	broad.mit.edu	37	22	38963608	38963608	+	Missense_Mutation	SNP	G	G	T	rs139861590		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:38963608G>T	ENST00000216024.2	-	3	352	c.76C>A	c.(76-78)Ctg>Atg	p.L26M	DMC1_ENST00000428462.2_Missense_Mutation_p.L26M	NM_007068.2	NP_008999.2	Q14565	DMC1_HUMAN	DNA meiotic recombinase 1	26					reciprocal meiotic recombination	condensed nuclear chromosome	ATP binding|DNA binding|DNA-dependent ATPase activity|protein binding			large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	11	Melanoma(58;0.0286)					TTCTGTAACAGGTCAATATCT	0.333								Homologous recombination					19	28					2.54575e-18	3.30058e-18	1	1	0	T	38963608	G	T	38963608	3	4	81	1	0	0	0	0	1	0	0	0	4607	991	35	4	994	4	DMC1	22	38963608	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	140346	38963608	12340958	14771	18387											
CBX6	23466	broad.mit.edu	37	22	39262791	39262791	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:39262791C>T	ENST00000407418.3	-	5	785	c.662G>A	c.(661-663)cGt>cAt	p.R221H	CBX6_ENST00000216083.6_Missense_Mutation_p.R203H			O95503	CBX6_HUMAN	chromobox homolog 6	221					chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	PcG protein complex				large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6	Melanoma(58;0.04)					GATCTGTGTACGCAGGACGCT	0.701													20	40					0	0	1	0	0	T	39262791	C	T	39262791	3	4	81	1	0	0	0	0	1	0	0	0	2740	536	19	1	580	1	CBX6	22	39262791	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	299183	39262791	12041775	14772	18388											
CBX6	23466	broad.mit.edu	37	22	39262866	39262866	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:39262866G>T	ENST00000407418.3	-	5	710	c.587C>A	c.(586-588)gCg>gAg	p.A196E	CBX6_ENST00000216083.6_Missense_Mutation_p.A178E			O95503	CBX6_HUMAN	chromobox homolog 6	196					chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	PcG protein complex				large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6	Melanoma(58;0.04)					gcgggccagcgccccggcccc	0.662													6	11					0.248553	0.249876	1	1	0	T	39262866	G	T	39262866	3	4	81	1	0	0	0	0	1	0	0	0	2740	1087	38	5	655	5	CBX6	22	39262866	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	75	39262866	12041700	14773	18389											
CBX6	23466	broad.mit.edu	37	22	39262895	39262895	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:39262895G>A	ENST00000407418.3	-	5	681	c.558C>T	c.(556-558)ggC>ggT	p.G186G	CBX6_ENST00000216083.6_Silent_p.G168G			O95503	CBX6_HUMAN	chromobox homolog 6	186					chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	PcG protein complex				large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6	Melanoma(58;0.04)					cgcccccgccgccAGCGCCCT	0.677													7	11					0	0	1	0	0	A	39262895	G	A	39262895	2	1	81	1	0	0	0	0	0	0	0	1	2740	1074	38	1		1	CBX6	22	39262895	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	29	39262895	12041671	14774	18390											
APOBEC3D	140564	broad.mit.edu	37	22	39418966	39418966	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:39418966G>T	ENST00000216099.8	+	2	564	c.157G>T	c.(157-159)Ggg>Tgg	p.G53W	APOBEC3D_ENST00000427494.2_Missense_Mutation_p.G53W|APOBEC3D_ENST00000381568.4_Missense_Mutation_p.G53W	NM_152426.3	NP_689639.2	Q96AK3	ABC3D_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3D						negative regulation of transposition		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|zinc ion binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)	11	Melanoma(58;0.04)					TTGGGACACAGGGGTCTTTCG	0.498													4	51					0.00909568	0.00944708	1	1	0	T	39418966	G	T	39418966	3	4	81	1	0	0	0	0	1	0	0	0	789	1000	35	4	163	4	APOBEC3D	22	39418966	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	156071	39418966	11885600	14775	18391											
APOBEC3D	140564	broad.mit.edu	37	22	39421198	39421198	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:39421198T>C	ENST00000216099.8	+	3	741	c.334T>C	c.(334-336)Tgt>Cgt	p.C112R	APOBEC3D_ENST00000427494.2_Intron|APOBEC3D_ENST00000381568.4_Missense_Mutation_p.C112R	NM_152426.3	NP_689639.2	Q96AK3	ABC3D_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3D						negative regulation of transposition		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|zinc ion binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)	11	Melanoma(58;0.04)					CTGCCTGCCCTGTGTGGTGAA	0.552													14	96					0	0	1	0	0	C	39421198	T	C	39421198	3	2	81	1	0	0	0	0	1	0	0	0	789	1580	55	3	344	3	APOBEC3D	22	39421198	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	2232	39421198	11883368	14776	18392											
APOBEC3D	140564	broad.mit.edu	37	22	39421574	39421574	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:39421574G>A	ENST00000216099.8	+	4	910	c.503G>A	c.(502-504)tGc>tAc	p.C168Y	APOBEC3D_ENST00000427494.2_Intron|APOBEC3D_ENST00000381568.4_Missense_Mutation_p.C168Y	NM_152426.3	NP_689639.2	Q96AK3	ABC3D_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3D						negative regulation of transposition		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|zinc ion binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)	11	Melanoma(58;0.04)					TTTGCATACTGCTGGGAAAAC	0.527													12	165					0	0	1	0	0	A	39421574	G	A	39421574	3	1	81	1	0	0	0	0	1	0	0	0	789	1319	46	2	517	2	APOBEC3D	22	39421574	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	376	39421574	11882992	14777	18393											
APOBEC3D	140564	broad.mit.edu	37	22	39425374	39425374	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:39425374G>A	ENST00000216099.8	+	5	1019	c.612G>A	c.(610-612)ccG>ccA	p.P204P	APOBEC3D_ENST00000427494.2_Intron|APOBEC3D_ENST00000381568.4_Silent_p.P204P	NM_152426.3	NP_689639.2	Q96AK3	ABC3D_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3D						negative regulation of transposition		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|zinc ion binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)	11	Melanoma(58;0.04)					TCAGAAACCCGATGGAGGCAA	0.522													19	64					0	0	1	0	0	A	39425374	G	A	39425374	2	1	81	1	0	0	0	0	0	0	0	1	789	1045	37	1		1	APOBEC3D	22	39425374	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	3800	39425374	11879192	14778	18394											
APOBEC3G	60489	broad.mit.edu	37	22	39483117	39483117	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:39483117C>T	ENST00000407997.3	+	7	1483	c.1126C>T	c.(1126-1128)Cgg>Tgg	p.R376W	APOBEC3G_ENST00000452957.2_Missense_Mutation_p.R376W	NM_021822.3	NP_068594.1			apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3G											central_nervous_system(1)|large_intestine(4)|lung(5)|skin(1)|stomach(1)	12	Melanoma(58;0.04)					TGGGAGGCTGCGGGCCATTCT	0.632													11	41					0	0	1	0	0	T	39483117	C	T	39483117	3	4	81	1	0	0	0	0	1	0	0	0	791	759	27	1	1152	1	APOBEC3G	22	39483117	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	57743	39483117	11821449	14779	18395											
APOBEC3H	164668	broad.mit.edu	37	22	39497438	39497438	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:39497438G>A	ENST00000442487.3	+	3	474	c.347G>A	c.(346-348)tGc>tAc	p.C116Y	APOBEC3H_ENST00000401756.1_Missense_Mutation_p.C116Y|APOBEC3H_ENST00000421988.2_Missense_Mutation_p.C116Y|APOBEC3H_ENST00000348946.4_Missense_Mutation_p.C116Y	NM_181773.3	NP_861438.2	Q6NTF7	ABC3H_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3H	116					DNA cytosine deamination|negative regulation of retroviral genome replication|negative regulation of transposition	cytoplasm|nucleus	cytidine deaminase activity|zinc ion binding			central_nervous_system(1)|kidney(8)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	15	Melanoma(58;0.04)					TACCACTGGTGCAAGCCCCAG	0.592													4	32					0	0	1	0	0	A	39497438	G	A	39497438	3	1	81	1	0	0	0	0	1	0	0	0	792	1319	46	2	353	2	APOBEC3H	22	39497438	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	14321	39497438	11807128	14780	18396											
TAB1	10454	broad.mit.edu	37	22	39811107	39811107	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:39811107A>G	ENST00000216160.6	+	2	192	c.130A>G	c.(130-132)Act>Gct	p.T44A	TAB1_ENST00000331454.3_Missense_Mutation_p.T44A	NM_006116.2	NP_006107.1	Q15750	TAB1_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 1	44					activation of MAPK activity|activation of MAPKKK activity|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane	catalytic activity|protein binding			breast(1)|endometrium(2)|large_intestine(2)|lung(8)|urinary_tract(1)	14						TGGCAAGGGCACTGAGAGCCA	0.602													4	26					0	0	1	0	0	G	39811107	A	G	39811107	3	3	81	1	0	0	0	0	1	0	0	0	15552	159	6	3	136	3	TAB1	22	39811107	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	313669	39811107	11493459	14781	18397											
MGAT3	4248	broad.mit.edu	37	22	39883969	39883969	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:39883969G>A	ENST00000341184.6	+	2	832	c.617G>A	c.(616-618)cGc>cAc	p.R206H		NM_001098270.1|NM_002409.4	NP_001091740.1|NP_002400.3	Q09327	MGAT3_HUMAN	mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase	206					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity			endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|prostate(1)|skin(1)	24	Melanoma(58;0.04)					GAGGTGCCGCGCCGCGTCATC	0.677													8	8					0	0	1	0	0	A	39883969	G	A	39883969	3	1	81	1	0	0	0	0	1	0	0	0	9594	1087	38	1	619	1	MGAT3	22	39883969	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	72862	39883969	11420597	14782	18398											
MGAT3	4248	broad.mit.edu	37	22	39884759	39884759	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:39884759G>A	ENST00000341184.6	+	2	1622	c.1407G>A	c.(1405-1407)caG>caA	p.Q469Q		NM_001098270.1|NM_002409.4	NP_001091740.1|NP_002400.3	Q09327	MGAT3_HUMAN	mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase	469					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity			endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|prostate(1)|skin(1)	24	Melanoma(58;0.04)					ACGGCACGCAGCAGGAGTACC	0.627													8	9					0	0	1	0	0	A	39884759	G	A	39884759	2	1	81	1	0	0	0	0	0	0	0	1	9594	962	34	2		2	MGAT3	22	39884759	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	790	39884759	11419807	14783	18399											
ATF4	468	broad.mit.edu	37	22	39917987	39917987	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:39917987G>T	ENST00000337304.2	+	2	1318	c.436G>T	c.(436-438)Gaa>Taa	p.E146*	ATF4_ENST00000404241.2_Nonsense_Mutation_p.E146*|ATF4_ENST00000396680.1_Nonsense_Mutation_p.E146*	NM_001675.2	NP_001666.2	P18848	ATF4_HUMAN	activating transcription factor 4	146					cellular amino acid metabolic process|gluconeogenesis|positive regulation of transcription from RNA polymerase II promoter|response to endoplasmic reticulum stress|transcription from RNA polymerase II promoter	cytoplasm|plasma membrane	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	11	Melanoma(58;0.04)					CCATCTCCCAGAAAGTTTAAC	0.532													8	148					0.00448238	0.00470627	1	1	0	T	39917987	G	T	39917987	4	4	81	1	0	0	0	0	0	1	0	0	1081	943	33	4	442	4	ATF4	22	39917987	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	33228	39917987	11386579	14784	18400											
CACNA1I	8911	broad.mit.edu	37	22	40054159	40054159	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:40054159G>A	ENST00000402142.3	+	11	1995	c.1995G>A	c.(1993-1995)ccG>ccA	p.P665P	CACNA1I_ENST00000400164.3_Intron|CACNA1I_ENST00000336649.4_Intron|CACNA1I_ENST00000407673.1_Silent_p.P630P|CACNA1I_ENST00000401624.1_Silent_p.P665P|CACNA1I_ENST00000404898.1_Silent_p.P630P	NM_021096.3	NP_066919.2	Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	665					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	CCCCACAGCCGGAGGAGCTGA	0.607													30	75					0	0	1	0	0	A	40054159	G	A	40054159	2	1	81	1	0	0	0	0	0	0	0	1	2564	1103	39	1		1	CACNA1I	22	40054159	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	136172	40054159	11250407	14785	18401											
CACNA1I	8911	broad.mit.edu	37	22	40057154	40057154	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:40057154C>A	ENST00000336649.4	+	19	2758	c.2758C>A	c.(2758-2760)Ctg>Atg	p.L920M	CACNA1I_ENST00000400164.3_Missense_Mutation_p.L879M|CACNA1I_ENST00000407673.1_Missense_Mutation_p.L879M|CACNA1I_ENST00000402142.3_Missense_Mutation_p.L914M|CACNA1I_ENST00000401624.1_Missense_Mutation_p.L914M|CACNA1I_ENST00000404898.1_Missense_Mutation_p.L879M			Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	914					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	CAATGGGCACCTGGACCCCAG	0.647													9	19					0.000442599	0.000477972	1	1	0	A	40057154	C	A	40057154	3	1	81	1	0	0	0	0	1	0	0	0	2564	680	24	4	2802	4	CACNA1I	22	40057154	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2995	40057154	11247412	14786	18402											
ENTHD1	150350	broad.mit.edu	37	22	40161424	40161424	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:40161424C>A	ENST00000325157.6	-	6	1273	c.1023G>T	c.(1021-1023)gaG>gaT	p.E341D		NM_152512.3	NP_689725.2	Q8IYW4	ENTD1_HUMAN	ENTH domain containing 1	341										breast(2)|endometrium(1)|kidney(6)|large_intestine(6)|lung(11)|ovary(3)|skin(3)	32	Melanoma(58;0.0749)					GGCTGATAAACTCCTCTTTAC	0.398													9	100					0.000442599	0.000477972	1	1	0	A	40161424	C	A	40161424	3	1	81	1	0	0	0	0	1	0	0	0	5165	564	20	4	808	4	ENTHD1	22	40161424	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	104270	40161424	11143142	14787	18403											
FAM83F	113828	broad.mit.edu	37	22	40417586	40417586	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:40417586C>T	ENST00000333407.6	+	4	1166	c.1072C>T	c.(1072-1074)Cag>Tag	p.Q358*	FAM83F_ENST00000473717.1_Nonsense_Mutation_p.Q190*	NM_138435.2	NP_612444.2	Q8NEG4	FA83F_HUMAN	family with sequence similarity 83, member F											breast(1)|endometrium(2)|large_intestine(1)|lung(4)|skin(4)|urinary_tract(2)	14						CCCGGAGGGGCAGGAGGAGGG	0.716													5	22					0	0	1	0	0	T	40417586	C	T	40417586	4	4	81	1	0	0	0	0	0	1	0	0	5670	711	25	2	1086	2	FAM83F	22	40417586	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	256162	40417586	10886980	14788	18404											
TNRC6B	23112	broad.mit.edu	37	22	40661037	40661037	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:40661037T>C	ENST00000454349.2	+	5	1014	c.803T>C	c.(802-804)gTt>gCt	p.V268A	TNRC6B_ENST00000301923.9_Intron|TNRC6B_ENST00000335727.9_Missense_Mutation_p.V268A|TNRC6B_ENST00000402203.1_Intron	NM_001162501.1	NP_001155973.1	Q9UPQ9	TNR6B_HUMAN	trinucleotide repeat containing 6B	268					gene silencing by RNA|regulation of translation	cytoplasmic mRNA processing body	nucleotide binding|RNA binding			breast(1)	1						GCTAAATCTGTTCAATCTTCC	0.458													9	55					0	0	1	0	0	C	40661037	T	C	40661037	3	2	81	1	0	0	0	0	1	0	0	0	16401	1725	60	3	942	3	TNRC6B	22	40661037	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	243451	40661037	10643529	14789	18405											
ADSL	158	broad.mit.edu	37	22	40745930	40745930	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:40745930G>A	ENST00000216194.7	+	2	304	c.248G>A	c.(247-249)cGt>cAt	p.R83H	ADSL_ENST00000454266.2_Missense_Mutation_p.R83H|ADSL_ENST00000342312.6_Missense_Mutation_p.R83H	NM_000026.2	NP_000017.1	P30566	PUR8_HUMAN	adenylosuccinate lyase	83					AMP biosynthetic process|protein tetramerization|purine base metabolic process	cytosol	(S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity|N6-(1,2-dicarboxyethyl)AMP AMP-lyase (fumarate-forming) activity			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(2)|ovary(1)|prostate(1)	19						GAAGAGAAACGTTTACGACAT	0.463													23	32					0	0	1	0	0	A	40745930	G	A	40745930	3	1	81	1	0	0	0	0	1	0	0	0	345	1145	40	1	254	1	ADSL	22	40745930	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	84893	40745930	10558636	14790	18406	91	2									
ADSL	158	broad.mit.edu	37	22	40745935	40745935	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:40745935C>T	ENST00000216194.7	+	2	309	c.253C>T	c.(253-255)Cga>Tga	p.R85*	ADSL_ENST00000454266.2_Nonsense_Mutation_p.R85*|ADSL_ENST00000342312.6_Nonsense_Mutation_p.R85*	NM_000026.2	NP_000017.1	P30566	PUR8_HUMAN	adenylosuccinate lyase	85					AMP biosynthetic process|protein tetramerization|purine base metabolic process	cytosol	(S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity|N6-(1,2-dicarboxyethyl)AMP AMP-lyase (fumarate-forming) activity			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(2)|ovary(1)|prostate(1)	19						GAAACGTTTACGACATGATGT	0.458													26	36					0	0	1	0	0	T	40745935	C	T	40745935	4	4	81	1	0	0	0	0	0	1	0	0	345	528	19	1	259	1	ADSL	22	40745935	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	5	40745935	10558631	14791	18407	91	2									
SGSM3	27352	broad.mit.edu	37	22	40800570	40800570	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:40800570C>T	ENST00000248929.9	+	6	565	c.376C>T	c.(376-378)Cgg>Tgg	p.R126W	SGSM3_ENST00000454798.2_Missense_Mutation_p.R59W	NM_015705.4	NP_056520.2	Q96HU1	SGSM3_HUMAN	small G protein signaling modulator 3	126	Rab-GAP TBC.				cell cycle arrest|Rap protein signal transduction	cytoplasm	Rab GTPase activator activity|Rab GTPase binding			cervix(1)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)	19						GCTGTGGATGCGGCTCTCTGG	0.592													12	14					0	0	1	0	0	T	40800570	C	T	40800570	3	4	81	1	0	0	0	0	1	0	0	0	14278	759	27	1	394	1	SGSM3	22	40800570	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	54635	40800570	10503996	14792	18408											
SGSM3	27352	broad.mit.edu	37	22	40802149	40802149	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:40802149C>A	ENST00000248929.9	+	9	1071	c.882C>A	c.(880-882)ctC>ctA	p.L294L	SGSM3_ENST00000454798.2_Silent_p.L227L	NM_015705.4	NP_056520.2	Q96HU1	SGSM3_HUMAN	small G protein signaling modulator 3	294	Rab-GAP TBC.				cell cycle arrest|Rap protein signal transduction	cytoplasm	Rab GTPase activator activity|Rab GTPase binding			cervix(1)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)	19						TCAAGCTGCTCCTGCGCATCT	0.617													6	61					0.00307968	0.00324365	1	1	0	A	40802149	C	A	40802149	2	1	81	1	0	0	0	0	0	0	0	1	14278	842	30	5		5	SGSM3	22	40802149	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1579	40802149	10502417	14793	18409											
SGSM3	27352	broad.mit.edu	37	22	40805486	40805486	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:40805486C>T	ENST00000248929.9	+	21	2318	c.2129C>T	c.(2128-2130)gCc>gTc	p.A710V		NM_015705.4	NP_056520.2	Q96HU1	SGSM3_HUMAN	small G protein signaling modulator 3	710	RUN.				cell cycle arrest|Rap protein signal transduction	cytoplasm	Rab GTPase activator activity|Rab GTPase binding			cervix(1)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)	19						TGCTGCTTTGCCTTCAGCCTC	0.627													38	59					0	0	1	0	0	T	40805486	C	T	40805486	3	4	81	1	0	0	0	0	1	0	0	0	14278	739	26	2	2207	2	SGSM3	22	40805486	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3337	40805486	10499080	14794	18410											
MKL1	57591	broad.mit.edu	37	22	40825629	40825629	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:40825629G>A	ENST00000396617.3	-	7	872	c.282C>T	c.(280-282)agC>agT	p.S94S	MKL1_ENST00000402042.1_Silent_p.S94S|MKL1_ENST00000407029.1_Silent_p.S94S|MKL1_ENST00000402630.1_Silent_p.S94S|MKL1_ENST00000355630.3_Silent_p.S94S	NM_001282662.1	NP_001269591.1	Q969V6	MKL1_HUMAN	megakaryoblastic leukemia (translocation) 1	94	Mediates interaction with SCAI and ACTB (By similarity).				positive regulation of transcription from RNA polymerase II promoter|smooth muscle cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	actin monomer binding|leucine zipper domain binding|nucleic acid binding|transcription coactivator activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						CTTCCTTCAGGCTGGACTCAA	0.572			T	RBM15	acute megakaryocytic leukemia								19	22					0	0	1	0	0	A	40825629	G	A	40825629	2	1	81	1	0	0	0	0	0	0	0	1	9649	1194	42	2		2	MKL1	22	40825629	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	20143	40825629	10478937	14795	18411											
MKL1	57591	broad.mit.edu	37	22	40827453	40827453	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:40827453G>T	ENST00000396617.3	-	6	685	c.95C>A	c.(94-96)tCc>tAc	p.S32Y	MKL1_ENST00000402042.1_Missense_Mutation_p.S32Y|MKL1_ENST00000407029.1_Missense_Mutation_p.S32Y|MKL1_ENST00000402630.1_Missense_Mutation_p.S32Y|MKL1_ENST00000355630.3_Missense_Mutation_p.S32Y	NM_001282662.1	NP_001269591.1	Q969V6	MKL1_HUMAN	megakaryoblastic leukemia (translocation) 1	32	Mediates interaction with SCAI and ACTB (By similarity).				positive regulation of transcription from RNA polymerase II promoter|smooth muscle cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	actin monomer binding|leucine zipper domain binding|nucleic acid binding|transcription coactivator activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						CTCCGGCCGGGAACGAATCTT	0.468			T	RBM15	acute megakaryocytic leukemia								17	223					1.33834e-09	1.61909e-09	1	1	0	T	40827453	G	T	40827453	3	4	81	1	0	0	0	0	1	0	0	0	9649	1174	41	5	2740	5	MKL1	22	40827453	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1824	40827453	10477113	14796	18412											
MCHR1	2847	broad.mit.edu	37	22	41077577	41077577	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:41077577C>T	ENST00000249016.4	+	2	1610	c.914C>T	c.(913-915)aCg>aTg	p.T305M	MCHR1_ENST00000381433.2_Missense_Mutation_p.T179M|MCHR1_ENST00000498400.1_3'UTR	NM_005297.3	NP_005288.3	Q99705	MCHR1_HUMAN	melanin-concentrating hormone receptor 1	305			T -> M.		elevation of cytosolic calcium ion concentration|feeding behavior|generation of precursor metabolites and energy|inhibition of adenylate cyclase activity by G-protein signaling pathway	integral to plasma membrane|nonmotile primary cilium	neuropeptide receptor activity			endometrium(5)|large_intestine(7)|lung(6)|pancreas(1)|urinary_tract(1)	20						CAGCGCATGACGTCCTCAGTG	0.597													20	31					0	0	1	0	0	T	41077577	C	T	41077577	3	4	81	1	0	0	0	0	1	0	0	0	9432	536	19	1	920	1	MCHR1	22	41077577	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	250124	41077577	10226989	14797	18413	92	2									
MCHR1	2847	broad.mit.edu	37	22	41077581	41077581	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:41077581C>A	ENST00000249016.4	+	2	1614	c.918C>A	c.(916-918)tcC>tcA	p.S306S	MCHR1_ENST00000381433.2_Silent_p.S180S|MCHR1_ENST00000498400.1_3'UTR	NM_005297.3	NP_005288.3	Q99705	MCHR1_HUMAN	melanin-concentrating hormone receptor 1	306					elevation of cytosolic calcium ion concentration|feeding behavior|generation of precursor metabolites and energy|inhibition of adenylate cyclase activity by G-protein signaling pathway	integral to plasma membrane|nonmotile primary cilium	neuropeptide receptor activity			endometrium(5)|large_intestine(7)|lung(6)|pancreas(1)|urinary_tract(1)	20						GCATGACGTCCTCAGTGGCCC	0.602													20	33					5.26018e-13	6.61446e-13	1	1	0	A	41077581	C	A	41077581	2	1	81	1	0	0	0	0	0	0	0	1	9432	668	24	4		4	MCHR1	22	41077581	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	4	41077581	10226985	14798	18414	92	2									
SLC25A17	10478	broad.mit.edu	37	22	41175130	41175130	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:41175130C>T	ENST00000402844.3	-	1	1068	c.88G>A	c.(88-90)Gga>Aga	p.G30R	SLC25A17_ENST00000542412.1_Splice_Site|SLC25A17_ENST00000435456.2_Splice_Site|SLC25A17_ENST00000491545.1_Splice_Site|SLC25A17_ENST00000544408.1_Splice_Site			O43808	PM34_HUMAN	solute carrier family 25 (mitochondrial carrier; peroxisomal membrane protein, 34kDa), member 17	112					fatty acid alpha-oxidation	integral to plasma membrane|mitochondrial inner membrane|peroxisomal membrane	adenine nucleotide transmembrane transporter activity|protein binding			central_nervous_system(1)|large_intestine(4)|lung(2)|skin(1)	8						TTAACCACTCCTTTAACAAGA	0.378													4	32					0	0	1	0	0	T	41175130	C	T	41175130	3	4	81	1	0	0	0	0	1	0	0	0	14534	695	24	2	609	2	SLC25A17	22	41175130	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	97549	41175130	10129436	14799	18415											
ST13	6767	broad.mit.edu	37	22	41223100	41223100	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:41223100C>A	ENST00000216218.3	-	11	1462	c.981G>T	c.(979-981)caG>caT	p.Q327H		NM_003932.3	NP_003923.2	P50502	F10A1_HUMAN	suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein)	327	STI1.						protein binding, bridging			cervix(1)|large_intestine(1)|lung(3)|skin(1)	6						CAAGTCTTACCTGCATGGCTG	0.428													7	50					8.12818e-05	8.94031e-05	1	1	0	A	41223100	C	A	41223100	5	1	81	1	0	0	0	0	0	0	1	0	15266	695	24	4	136	4	ST13	22	41223100	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	47970	41223100	10081466	14800	18416											
ST13	6767	broad.mit.edu	37	22	41231579	41231579	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:41231579C>T	ENST00000216218.3	-	7	1044	c.563G>A	c.(562-564)cGg>cAg	p.R188Q		NM_003932.3	NP_003923.2	P50502	F10A1_HUMAN	suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein)	188							protein binding, bridging			cervix(1)|large_intestine(1)|lung(3)|skin(1)	6						TGCTTTCCCCCGCCACTTGTA	0.358													24	195					0	0	1	0	0	T	41231579	C	T	41231579	3	4	81	1	0	0	0	0	1	0	0	0	15266	652	23	1	570	1	ST13	22	41231579	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	8479	41231579	10072987	14801	18417											
ST13	6767	broad.mit.edu	37	22	41231859	41231859	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:41231859C>A	ENST00000216218.3	-	6	896	c.415G>T	c.(415-417)Gat>Tat	p.D139Y		NM_003932.3	NP_003923.2	P50502	F10A1_HUMAN	suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein)	139							protein binding, bridging			cervix(1)|large_intestine(1)|lung(3)|skin(1)	6						TTGATGGCATCTGTGAATAAG	0.383													4	59					0.00024832	0.000269806	1	1	0	A	41231859	C	A	41231859	3	1	81	1	0	0	0	0	1	0	0	0	15266	913	32	4	722	4	ST13	22	41231859	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	280	41231859	10072707	14802	18418											
DNAJB7	150353	broad.mit.edu	37	22	41257829	41257829	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:41257829G>T	ENST00000307221.4	-	1	301	c.170C>A	c.(169-171)tCa>tAa	p.S57*	XPNPEP3_ENST00000357137.4_Intron|XPNPEP3_ENST00000482652.1_3'UTR|XPNPEP3_ENST00000541156.1_Intron|XPNPEP3_ENST00000414396.1_Intron	NM_145174.1	NP_660157.1	Q7Z6W7	DNJB7_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 7	57	J.				protein folding		heat shock protein binding|unfolded protein binding			breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	10						CTCATCATTTGATAATACCTC	0.373													83	135					3.2527e-25	4.30149e-25	1	1	0	T	41257829	G	T	41257829	4	4	81	1	0	0	0	0	0	1	0	0	4652	1294	45	5	763	5	DNAJB7	22	41257829	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	25970	41257829	10046737	14803	18419											
EP300	2033	broad.mit.edu	37	22	41566461	41566461	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:41566461T>C	ENST00000263253.7	+	27	5557	c.4338T>C	c.(4336-4338)taT>taC	p.Y1446Y	RP1-85F18.6_ENST00000415054.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	1446					apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						GAGATGATTATATCTTCCATT	0.413			"T,  N, F, Mis, O"	"MLL, RUNXBP2"	"colorectal, breast, pancreatic, AML, ALL, DLBCL"				Rubinstein-Taybi syndrome				5	98					0	0	1	0	0	C	41566461	T	C	41566461	2	2	81	1	0	0	0	0	0	0	0	1	5176	1413	49	3		3	EP300	22	41566461	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	308632	41566461	9738105	14804	18420											
EP300	2033	broad.mit.edu	37	22	41574489	41574489	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:41574489G>T	ENST00000263253.7	+	31	7993	c.6774G>T	c.(6772-6774)caG>caT	p.Q2258H	RP1-85F18.5_ENST00000420537.1_RNA|RP1-85F18.6_ENST00000415054.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	2258					apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						CCAGTCTACAGGCCTATCAGC	0.582			"T,  N, F, Mis, O"	"MLL, RUNXBP2"	"colorectal, breast, pancreatic, AML, ALL, DLBCL"				Rubinstein-Taybi syndrome				18	25					1.33834e-09	1.61909e-09	1	1	0	T	41574489	G	T	41574489	3	4	81	1	0	0	0	0	1	0	0	0	5176	991	35	4	6896	4	EP300	22	41574489	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	8028	41574489	9730077	14805	18421											
EP300	2033	broad.mit.edu	37	22	41574637	41574637	+	Missense_Mutation	SNP	C	C	T	rs145312648		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:41574637C>T	ENST00000263253.7	+	31	8141	c.6922C>T	c.(6922-6924)Cgc>Tgc	p.R2308C	RP1-85F18.5_ENST00000420537.1_RNA|RP1-85F18.6_ENST00000415054.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	2308					apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						CAATCAAGTGCGCTCTCCCCA	0.612			"T,  N, F, Mis, O"	"MLL, RUNXBP2"	"colorectal, breast, pancreatic, AML, ALL, DLBCL"				Rubinstein-Taybi syndrome				21	26					0	0	1	0	0	T	41574637	C	T	41574637	3	4	81	1	0	0	0	0	1	0	0	0	5176	768	27	1	7044	1	EP300	22	41574637	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	148	41574637	9729929	14806	18422											
EP300	2033	broad.mit.edu	37	22	41574836	41574836	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:41574836C>A	ENST00000263253.7	+	31	8340	c.7121C>A	c.(7120-7122)tCt>tAt	p.S2374Y	RP1-85F18.5_ENST00000420537.1_RNA|RP1-85F18.6_ENST00000415054.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	2374					apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding	p.S2374Y(1)		NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						TCAATGCTTTCTCAGCTTGCT	0.547			"T,  N, F, Mis, O"	"MLL, RUNXBP2"	"colorectal, breast, pancreatic, AML, ALL, DLBCL"				Rubinstein-Taybi syndrome				19	17					2.35188e-11	2.91332e-11	1	1	0	A	41574836	C	A	41574836	3	1	81	1	0	0	0	0	1	0	0	0	5176	913	32	4	7243	4	EP300	22	41574836	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	199	41574836	9729730	14807	18423											
L3MBTL2	83746	broad.mit.edu	37	22	41620783	41620783	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:41620783C>T	ENST00000216237.5	+	10	1387	c.1229C>T	c.(1228-1230)gCc>gTc	p.A410V		NM_031488.4	NP_113676.2	Q969R5	LMBL2_HUMAN	l(3)mbt-like 2 (Drosophila)	410					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	methylated histone residue binding|transcription corepressor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TACTGTGATGCCGTTCCTTAC	0.572													9	26					0	0	1	0	0	T	41620783	C	T	41620783	3	4	81	1	0	0	0	0	1	0	0	0	8631	739	26	2	1267	2	L3MBTL2	22	41620783	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	45947	41620783	9683783	14808	18424											
ZC3H7B	23264	broad.mit.edu	37	22	41745272	41745272	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:41745272G>A	ENST00000352645.4	+	16	2172	c.1915G>A	c.(1915-1917)Gag>Aag	p.E639K	ZC3H7B_ENST00000351589.4_Missense_Mutation_p.E639K	NM_017590.4	NP_060060.3	Q9UGR2	Z3H7B_HUMAN	zinc finger CCCH-type containing 7B	655					interspecies interaction between organisms	nucleus	nucleic acid binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						CAGCTTCATCGAGCTCAAGGT	0.657													30	46					0	0	1	0	0	A	41745272	G	A	41745272	3	1	81	1	0	0	0	0	1	0	0	0	17632	1059	37	1	1973	1	ZC3H7B	22	41745272	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	124489	41745272	9559294	14809	18425											
TEF	7008	broad.mit.edu	37	22	41783660	41783660	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:41783660G>A	ENST00000266304.4	+	2	579	c.463G>A	c.(463-465)Gtg>Atg	p.V155M	TEF_ENST00000406644.3_Missense_Mutation_p.V125M	NM_003216.3	NP_003207.1	Q10587	TEF_HUMAN	thyrotrophic embryonic factor	155					rhythmic process	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(2)|lung(2)|ovary(1)	6						CTCTGAAACCGTGTCCAGCAC	0.582													13	8					0	0	1	0	0	A	41783660	G	A	41783660	3	1	81	1	0	0	0	0	1	0	0	0	15809	1145	40	1	540	1	TEF	22	41783660	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	38388	41783660	9520906	14810	18426											
TOB2	10766	broad.mit.edu	37	22	41833168	41833168	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:41833168C>A	ENST00000327492.3	-	2	888	c.182G>T	c.(181-183)gGg>gTg	p.G61V		NM_016272.3	NP_057356.1	Q14106	TOB2_HUMAN	transducer of ERBB2, 2	61					female gamete generation|negative regulation of cell proliferation	cytoplasm|nucleus				cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10						CACCATCTCCCCAATGTGAAC	0.577													6	43					0.0293803	0.0300537	1	1	0	A	41833168	C	A	41833168	3	1	81	1	0	0	0	0	1	0	0	0	16408	623	22	5	856	5	TOB2	22	41833168	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	49508	41833168	9471398	14811	18427											
ACO2	50	broad.mit.edu	37	22	41903923	41903923	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:41903923C>T	ENST00000396512.3	+	3	319	c.302C>T	c.(301-303)gCg>gTg	p.A101V	ACO2_ENST00000216254.4_Missense_Mutation_p.A101V			Q99798	ACON_HUMAN	aconitase 2, mitochondrial	101					citrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleus	4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron ion binding|isocitrate hydro-lyase (cis-aconitate-forming) activity			breast(3)|endometrium(5)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	23						ATGCAGGATGCGACGGCCCAG	0.602													6	23					0	0	1	0	0	T	41903923	C	T	41903923	3	4	81	1	0	0	0	0	1	0	0	0	147	768	27	1	312	1	ACO2	22	41903923	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	70755	41903923	9400643	14812	18428											
ACO2	50	broad.mit.edu	37	22	41923906	41923906	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:41923906G>T	ENST00000396512.3	+	17	2180	c.2163G>T	c.(2161-2163)gaG>gaT	p.E721D	POLR3H_ENST00000355209.4_3'UTR|POLR3H_ENST00000396504.2_3'UTR|ACO2_ENST00000216254.4_Splice_Site_p.E696D			Q99798	ACON_HUMAN	aconitase 2, mitochondrial	696					citrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleus	4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron ion binding|isocitrate hydro-lyase (cis-aconitate-forming) activity			breast(3)|endometrium(5)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	23						GCTTTCCAGAGACCAACCTGA	0.572													8	99					1.12685e-05	1.27052e-05	1	1	0	T	41923906	G	T	41923906	5	4	81	1	0	0	0	0	0	0	1	0	147	956	33	4	2154	4	ACO2	22	41923906	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	19983	41923906	9380660	14813	18429											
XRCC6	2547	broad.mit.edu	37	22	42046725	42046725	+	Splice_Site	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:42046725A>G	ENST00000359308.4	+	7	1615		c.e7-1		XRCC6_ENST00000360079.3_Splice_Site|XRCC6_ENST00000402580.3_Splice_Site|XRCC6_ENST00000405878.1_Splice_Site|XRCC6_ENST00000428575.2_Splice_Site|XRCC6_ENST00000405506.1_Splice_Site			P12956	XRCC6_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 6						DNA ligation|double-strand break repair via nonhomologous end joining|initiation of viral infection|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|provirus integration|telomere maintenance|transcription, DNA-dependent	DNA-dependent protein kinase-DNA ligase 4 complex|Ku70:Ku80 complex|membrane fraction|nuclear telomere cap complex|transcription factor complex	5'-deoxyribose-5-phosphate lyase activity|ATP binding|ATP-dependent DNA helicase activity|double-stranded DNA binding|protein C-terminus binding|transcription regulatory region DNA binding			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	31						CTTCTCCTTCAGATCTATGGG	0.423								Non-homologous end-joining					5	69					0	0	1	0	0	G	42046725	A	G	42046725	5	3	81	1	0	0	0	0	0	0	1	0	17517	202	7	3	985	3	XRCC6	22	42046725	Splice_Site	SNP	A	TCGA-DU-6392-01A-11D-1705-08	122819	42046725	9257841	14814	18430											
NHP2L1	4809	broad.mit.edu	37	22	42071031	42071031	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:42071031G>T	ENST00000401959.1	-	4	609	c.293C>A	c.(292-294)cCt>cAt	p.P98H	NHP2L1_ENST00000402458.1_Missense_Mutation_p.P102H|NHP2L1_ENST00000463675.1_5'UTR|NHP2L1_ENST00000215956.5_Missense_Mutation_p.P98H|NHP2L1_ENST00000355257.3_Missense_Mutation_p.P98H	NM_005008.3	NP_004999.1	P55769	NH2L1_HUMAN	NHP2 non-histone chromosome protein 2-like 1 (S. cerevisiae)	98					nuclear mRNA splicing, via spliceosome|ribosome biogenesis	box C/D snoRNP complex|nucleoplasm|spliceosomal complex	protein binding|RNA binding			endometrium(1)|kidney(1)|lung(1)|prostate(1)	4						GGCGATGACAGGCCTGGAGAC	0.537													7	62					2.7689e-08	3.2887e-08	1	1	0	T	42071031	G	T	42071031	3	4	81	1	0	0	0	0	1	0	0	0	10457	1000	35	4	97	4	NHP2L1	22	42071031	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	24306	42071031	9233535	14815	18431											
CCDC134	79879	broad.mit.edu	37	22	42206291	42206291	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:42206291G>T	ENST00000255784.5	+	4	410	c.306G>T	c.(304-306)aaG>aaT	p.K102N	CCDC134_ENST00000402061.3_Intron	NM_024821.2	NP_079097.1	Q9H6E4	CC134_HUMAN	coiled-coil domain containing 134	102						extracellular region				large_intestine(1)|lung(2)|ovary(2)|skin(1)	6						AGAAGCTGAAGGATGGTATGG	0.617													5	14					0.184627	0.18622	1	1	0	T	42206291	G	T	42206291	3	4	81	1	0	0	0	0	1	0	0	0	2786	991	35	4	316	4	CCDC134	22	42206291	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	135260	42206291	9098275	14816	18432											
SREBF2	6721	broad.mit.edu	37	22	42273399	42273399	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:42273399G>A	ENST00000361204.4	+	8	1719	c.1553G>A	c.(1552-1554)gGc>gAc	p.G518D		NM_004599.2	NP_004590.2	Q12772	SRBP2_HUMAN	sterol regulatory element binding transcription factor 2	518					cholesterol metabolic process	ER to Golgi transport vesicle membrane|Golgi membrane|nucleus|SREBP-SCAP-Insig complex	protein C-terminus binding			NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						TCAGGCTCTGGCCGCAGTGTC	0.612													19	15					0	0	1	0	0	A	42273399	G	A	42273399	3	1	81	1	0	0	0	0	1	0	0	0	15198	1203	42	2	1583	2	SREBF2	22	42273399	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	67108	42273399	9031167	14817	18433											
CENPM	79019	broad.mit.edu	37	22	42341982	42341982	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:42341982G>T	ENST00000402338.1	-	2	304	c.63C>A	c.(61-63)ccC>ccA	p.P21P	CENPM_ENST00000407253.3_Silent_p.P55P|CENPM_ENST00000215980.5_Silent_p.P55P|CENPM_ENST00000402420.1_Silent_p.P21P|CENPM_ENST00000404067.1_Silent_p.P21P			Q9NSP4	CENPM_HUMAN	centromere protein M	55					mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleus				kidney(1)|large_intestine(1)|prostate(1)	3						TCACACTGGAGGGCAAAGGGA	0.522													5	31					0.000602214	0.000646338	1	1	0	T	42341982	G	T	42341982	2	4	81	1	0	0	0	0	0	0	0	1	3259	987	35	4		4	CENPM	22	42341982	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	68583	42341982	8962584	14818	18434											
FAM109B	150368	broad.mit.edu	37	22	42473371	42473371	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:42473371G>A	ENST00000321753.3	+	3	261	c.74G>A	c.(73-75)cGc>cAc	p.R25H		NM_001002034.2	NP_001002034.2	Q6ICB4	SESQ2_HUMAN	family with sequence similarity 109, member B	25	PH.				endosome organization|receptor recycling|retrograde transport, endosome to Golgi	clathrin-coated vesicle|early endosome|recycling endosome|trans-Golgi network	protein homodimerization activity			endometrium(2)|large_intestine(2)|liver(2)|lung(1)|prostate(1)	8						GGCTTCCTGCGCACCTGGGGG	0.622													31	49					0	0	1	0	0	A	42473371	G	A	42473371	3	1	81	1	0	0	0	0	1	0	0	0	5426	1087	38	1	76	1	FAM109B	22	42473371	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	131389	42473371	8831195	14819	18435											
CYP2D6	1565	broad.mit.edu	37	22	42523854	42523854	+	Silent	SNP	C	C	T	rs79292917	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:42523854C>T	ENST00000360608.5	-	6	1089	c.975G>A	c.(973-975)ccG>ccA	p.P325P	NDUFA6-AS1_ENST00000416037.2_RNA|NDUFA6-AS1_ENST00000439129.1_RNA|CYP2D6_ENST00000389970.3_Silent_p.P325P|CYP2D6_ENST00000359033.4_Silent_p.P274P	NM_000106.5	NP_000097	Q6NWU0	Q6NWU0_HUMAN	cytochrome P450, family 2, subfamily D, polypeptide 6	325							electron carrier activity|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen			NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(4)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GCTGCACATCCGGATGTAGGA	0.627													19	31					0	0	1	0	0	T	42523854	C	T	42523854	2	4	81	1	0	0	0	0	0	0	0	1	4192	639	23	1		1	CYP2D6	22	42523854	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	50483	42523854	8780712	14820	18436											
TCF20	6942	broad.mit.edu	37	22	42608017	42608017	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:42608017C>A	ENST00000359486.3	-	1	3431	c.3295G>T	c.(3295-3297)Gac>Tac	p.D1099Y	TCF20_ENST00000335626.4_Missense_Mutation_p.D1099Y	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	1099					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						CTGCTCCAGTCTTTATACTCC	0.512													11	55					3.07112e-06	3.5041e-06	1	1	0	A	42608017	C	A	42608017	3	1	81	1	0	0	0	0	1	0	0	0	15750	913	32	4	2625	4	TCF20	22	42608017	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	84163	42608017	8696549	14821	18437											
TCF20	6942	broad.mit.edu	37	22	42609038	42609038	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:42609038C>A	ENST00000359486.3	-	1	2410	c.2274G>T	c.(2272-2274)caG>caT	p.Q758H	TCF20_ENST00000335626.4_Missense_Mutation_p.Q758H	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	758					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						GGTGGTAACCCTGAAGCACTT	0.507													20	30					8.34094e-07	9.62661e-07	1	1	0	A	42609038	C	A	42609038	3	1	81	1	0	0	0	0	1	0	0	0	15750	680	24	4	3646	4	TCF20	22	42609038	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1021	42609038	8695528	14822	18438											
TCF20	6942	broad.mit.edu	37	22	42610042	42610042	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:42610042T>G	ENST00000359486.3	-	1	1406	c.1270A>C	c.(1270-1272)Atg>Ctg	p.M424L	TCF20_ENST00000335626.4_Missense_Mutation_p.M424L	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	424					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						CTGGGCATCATTGATGGGGTT	0.493													10	79					0	0	1	0	0	G	42610042	T	G	42610042	3	3	81	1	0	0	0	0	1	0	0	0	15750	1493	52	4	4650	4	TCF20	22	42610042	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	1004	42610042	8694524	14823	18439											
TCF20	6942	broad.mit.edu	37	22	42610433	42610433	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:42610433C>T	ENST00000359486.3	-	1	1015	c.879G>A	c.(877-879)caG>caA	p.Q293Q	TCF20_ENST00000335626.4_Silent_p.Q293Q	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	293					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						TAGATTGAGGCTGATAGCTGT	0.463													39	82					0	0	1	0	0	T	42610433	C	T	42610433	2	4	81	1	0	0	0	0	0	0	0	1	15750	796	28	2		2	TCF20	22	42610433	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	391	42610433	8694133	14824	18440											
RRP7A	27341	broad.mit.edu	37	22	42910712	42910712	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:42910712C>T	ENST00000323013.6	-	5	549	c.534G>A	c.(532-534)gaG>gaA	p.E178E		NM_015703.4	NP_056518.2	Q9Y3A4	RRP7A_HUMAN	ribosomal RNA processing 7 homolog A (S. cerevisiae)	178							nucleotide binding|RNA binding			central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|lung(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	10						GGTCATATGCCTCCATGAACG	0.652													6	17					0	0	1	0	0	T	42910712	C	T	42910712	2	4	81	1	0	0	0	0	0	0	0	1	13741	680	24	2		2	RRP7A	22	42910712	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	300279	42910712	8393854	14825	18441											
TTLL1	25809	broad.mit.edu	37	22	43471560	43471560	+	Silent	SNP	G	G	A	rs148475049	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:43471560G>A	ENST00000331018.7	-	3	273	c.33C>T	c.(31-33)atC>atT	p.I11I	TTLL1_ENST00000266254.7_Silent_p.I11I|TTLL1_ENST00000445824.1_Silent_p.I11I			O95922	TTLL1_HUMAN	tubulin tyrosine ligase-like family, member 1	11	TTL.				protein polyglutamylation	cytoplasm|microtubule	ATP binding|tubulin-glutamic acid ligase activity|tubulin-tyrosine ligase activity	p.I11I(1)		breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(1)	23		Ovarian(80;0.0694)		BRCA - Breast invasive adenocarcinoma(115;0.00461)		CTGACTTCTCGATATCAGTGA	0.413													74	120					0	0	1	0	0	A	43471560	G	A	43471560	2	1	81	1	0	0	0	0	0	0	0	1	16784	1048	37	1		1	TTLL1	22	43471560	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	560848	43471560	7833006	14826	18442											
MCAT	27349	broad.mit.edu	37	22	43529105	43529105	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:43529105C>T	ENST00000290429.6	-	4	1162	c.1117G>A	c.(1117-1119)Gat>Aat	p.D373N	MCAT_ENST00000327555.5_3'UTR	NM_173467.4	NP_775738.3	Q8IVS2	FABD_HUMAN	malonyl CoA:ACP acyltransferase (mitochondrial)						fatty acid biosynthetic process	mitochondrion	[acyl-carrier-protein] S-malonyltransferase activity|binding			breast(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(1)|urinary_tract(1)	11		Ovarian(80;0.0694)				TGCAGCACATCCACGGCGCTG	0.617													6	127					0	0	1	0	0	T	43529105	C	T	43529105	3	4	81	1	0	0	0	0	1	0	0	0	9422	855	30	2	59	2	MCAT	22	43529105	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	57545	43529105	7775461	14827	18443											
MCAT	27349	broad.mit.edu	37	22	43529484	43529484	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:43529484C>T	ENST00000327555.5	-	3	535	c.520G>A	c.(520-522)Gtt>Att	p.V174I	MCAT_ENST00000290429.6_Silent_p.R246R	NM_014507.3	NP_055322.1	Q8IVS2	FABD_HUMAN	malonyl CoA:ACP acyltransferase (mitochondrial)	0					fatty acid biosynthetic process	mitochondrion	[acyl-carrier-protein] S-malonyltransferase activity|binding			breast(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(1)|urinary_tract(1)	11		Ovarian(80;0.0694)				TCTGGAGAAACCGTAGAGCCT	0.552													5	10					0	0	1	0	0	T	43529484	C	T	43529484	3	4	81	1	0	0	0	0	1	0	0	0	9422	507	18	2	438	2	MCAT	22	43529484	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	379	43529484	7775082	14828	18444											
TTLL12	23170	broad.mit.edu	37	22	43568470	43568470	+	Missense_Mutation	SNP	G	G	A	rs11554504		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:43568470G>A	ENST00000216129.6	-	10	1495	c.1432C>T	c.(1432-1434)Cgg>Tgg	p.R478W		NM_015140.3	NP_055955.1	Q14166	TTL12_HUMAN	tubulin tyrosine ligase-like family, member 12	478	TTL.				protein modification process		tubulin-tyrosine ligase activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)	13		Ovarian(80;0.221)|Glioma(61;0.222)				CTCACTGACCGCAGCAGCACG	0.577													5	40					0	0	1	0	0	A	43568470	G	A	43568470	3	1	81	1	0	0	0	0	1	0	0	0	16787	1086	38	1	522	1	TTLL12	22	43568470	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	38986	43568470	7736096	14829	18445											
TTLL12	23170	broad.mit.edu	37	22	43576899	43576899	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:43576899C>T	ENST00000216129.6	-	3	458	c.395G>A	c.(394-396)cGc>cAc	p.R132H		NM_015140.3	NP_055955.1	Q14166	TTL12_HUMAN	tubulin tyrosine ligase-like family, member 12	132					protein modification process		tubulin-tyrosine ligase activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)	13		Ovarian(80;0.221)|Glioma(61;0.222)				CAGCTGCTGGCGCGCGTGCTC	0.667													26	34					0	0	1	0	0	T	43576899	C	T	43576899	3	4	81	1	0	0	0	0	1	0	0	0	16787	768	27	1	1587	1	TTLL12	22	43576899	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	8429	43576899	7727667	14830	18446											
SCUBE1	80274	broad.mit.edu	37	22	43606935	43606935	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:43606935G>A	ENST00000360835.4	-	18	2502	c.2376C>T	c.(2374-2376)caC>caT	p.H792H		NM_173050.3	NP_766638.2	Q8IWY4	SCUB1_HUMAN	signal peptide, CUB domain, EGF-like 1						adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization	external side of plasma membrane|extracellular space|extrinsic to plasma membrane	calcium ion binding|identical protein binding|protein heterodimerization activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_neural(38;0.0414)|Ovarian(80;0.07)				CACTTTTGCAGTGTGTGACGT	0.637													12	23					0	0	1	0	0	A	43606935	G	A	43606935	2	1	81	1	0	0	0	0	0	0	0	1	13998	1020	36	2		2	SCUBE1	22	43606935	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	30036	43606935	7697631	14831	18447											
SCUBE1	80274	broad.mit.edu	37	22	43654256	43654256	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:43654256G>A	ENST00000360835.4	-	6	822	c.696C>T	c.(694-696)taC>taT	p.Y232Y	SCUBE1_ENST00000290460.7_Silent_p.Y232Y	NM_173050.3	NP_766638.2	Q8IWY4	SCUB1_HUMAN	signal peptide, CUB domain, EGF-like 1						adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization	external side of plasma membrane|extracellular space|extrinsic to plasma membrane	calcium ion binding|identical protein binding|protein heterodimerization activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_neural(38;0.0414)|Ovarian(80;0.07)				AGTGGAGGGCGTACTTCTGGT	0.617													28	24					0	0	1	0	0	A	43654256	G	A	43654256	2	1	81	1	0	0	0	0	0	0	0	1	13998	1140	40	1		1	SCUBE1	22	43654256	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	47321	43654256	7650310	14832	18448											
MPPED1	758	broad.mit.edu	37	22	43821091	43821091	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:43821091G>A	ENST00000417669.2	+	2	544	c.100G>A	c.(100-102)Gcc>Acc	p.A34T	MPPED1_ENST00000542779.1_Missense_Mutation_p.A34T|MPPED1_ENST00000414469.2_Intron|MPPED1_ENST00000443721.1_Missense_Mutation_p.A34T|MPPED1_ENST00000439548.1_Intron|MPPED1_ENST00000538182.1_Missense_Mutation_p.A67T			O15442	MPPD1_HUMAN	metallophosphoesterase domain containing 1								hydrolase activity			endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|skin(1)	13		all_neural(38;0.0244)|Ovarian(80;0.0694)				CCACGTGATGGCCGCTCGGCG	0.662													10	12					0	0	1	0	0	A	43821091	G	A	43821091	3	1	81	1	0	0	0	0	1	0	0	0	9790	1203	42	2	102	2	MPPED1	22	43821091	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	166835	43821091	7483475	14833	18449											
EFCAB6	64800	broad.mit.edu	37	22	43926799	43926799	+	Missense_Mutation	SNP	G	G	A	rs144891068		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:43926799G>A	ENST00000262726.7	-	31	4532	c.4279C>T	c.(4279-4281)Cgt>Tgt	p.R1427C	EFCAB6_ENST00000461800.1_5'UTR|EFCAB6-AS1_ENST00000431327.3_RNA|EFCAB6_ENST00000396231.2_Missense_Mutation_p.R1275C	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	1427	Interaction with AR.|Interaction with PARK7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				GGCTGAATACGCAGCAGAGCA	0.542													23	30					0	0	1	0	0	A	43926799	G	A	43926799	3	1	81	1	0	0	0	0	1	0	0	0	4965	1087	38	1	234	1	EFCAB6	22	43926799	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	105708	43926799	7377767	14834	18450											
EFCAB6	64800	broad.mit.edu	37	22	44022455	44022455	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:44022455G>A	ENST00000262726.7	-	20	2590	c.2337C>T	c.(2335-2337)gaC>gaT	p.D779D	EFCAB6_ENST00000396231.2_Silent_p.D627D	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	779					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				CAAACTCGTCGTCTTTGAGAT	0.433													38	40					0	0	1	0	0	A	44022455	G	A	44022455	2	1	81	1	0	0	0	0	0	0	0	1	4965	1136	40	1		1	EFCAB6	22	44022455	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	95656	44022455	7282111	14835	18451											
EFCAB6	64800	broad.mit.edu	37	22	44079661	44079661	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:44079661G>A	ENST00000262726.7	-	12	1470	c.1217C>T	c.(1216-1218)gCg>gTg	p.A406V	EFCAB6_ENST00000358439.4_Intron|EFCAB6_ENST00000396231.2_Missense_Mutation_p.A254V	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	406	EF-hand 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				CTTCAGTGACGCAGAGTGATC	0.363													47	91					0	0	1	0	0	A	44079661	G	A	44079661	3	1	81	1	0	0	0	0	1	0	0	0	4965	1087	38	1	3372	1	EFCAB6	22	44079661	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	57206	44079661	7224905	14836	18452											
EFCAB6	64800	broad.mit.edu	37	22	44083420	44083420	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:44083420A>G	ENST00000262726.7	-	11	1326	c.1073T>C	c.(1072-1074)tTt>tCt	p.F358S	EFCAB6_ENST00000358439.4_Intron|EFCAB6_ENST00000396231.2_Missense_Mutation_p.F206S	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	358					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				TGATGTTAGAAATTGCTTCCA	0.299													15	28					0	0	1	0	0	G	44083420	A	G	44083420	3	3	81	1	0	0	0	0	1	0	0	0	4965	14	1	3	3520	3	EFCAB6	22	44083420	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	3759	44083420	7221146	14837	18453											
PNPLA5	150379	broad.mit.edu	37	22	44277523	44277523	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:44277523C>A	ENST00000216177.4	-	8	1246	c.1114G>T	c.(1114-1116)Gac>Tac	p.D372Y	PNPLA5_ENST00000381198.2_Missense_Mutation_p.D258Y|PNPLA5_ENST00000597664.1_Missense_Mutation_p.D372Y|PNPLA5_ENST00000593866.1_Missense_Mutation_p.D258Y	NM_138814.3	NP_620169.1	Q7Z6Z6	PLPL5_HUMAN	patatin-like phospholipase domain containing 5	372					lipid catabolic process		hydrolase activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	16		all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222)				CACCACAAGTCCGCCGGCACA	0.662													5	5					1.23904e-05	1.39156e-05	1	1	0	A	44277523	C	A	44277523	3	1	81	1	0	0	0	0	1	0	0	0	12216	855	30	5	183	5	PNPLA5	22	44277523	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	194103	44277523	7027043	14838	18454											
PNPLA3	80339	broad.mit.edu	37	22	44328962	44328962	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:44328962C>A	ENST00000216180.3	+	4	864	c.691C>A	c.(691-693)Ctc>Atc	p.L231I	PNPLA3_ENST00000423180.2_Missense_Mutation_p.L227I|PNPLA3_ENST00000478713.1_3'UTR	NM_025225.2	NP_079501.2	Q9NST1	PLPL3_HUMAN	patatin-like phospholipase domain containing 3	231					triglyceride biosynthetic process|triglyceride catabolic process	integral to membrane	diolein transacylation activity|mono-olein transacylation activity|phospholipase A2 activity|triglyceride lipase activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(3)|prostate(1)|skin(1)|stomach(2)	19		Ovarian(80;0.024)|all_neural(38;0.0416)				CCCCCCGGATCTCAAGGTGAG	0.537													23	44					4.87955e-14	6.177e-14	1	1	0	A	44328962	C	A	44328962	3	1	81	1	0	0	0	0	1	0	0	0	12214	913	32	4	705	4	PNPLA3	22	44328962	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	51439	44328962	6975604	14839	18455											
SAMM50	25813	broad.mit.edu	37	22	44360381	44360381	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:44360381A>G	ENST00000350028.4	+	3	339	c.182A>G	c.(181-183)gAt>gGt	p.D61G	SAMM50_ENST00000396202.3_5'UTR|SAMM50_ENST00000493161.1_3'UTR	NM_015380.4	NP_056195.3	Q9Y512	SAM50_HUMAN	SAMM50 sorting and assembly machinery component	61					protein import into mitochondrial outer membrane	integral to membrane|integral to membrane of membrane fraction|mitochondrial sorting and assembly machinery complex	protein binding			endometrium(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222)				ACTAAAGATGATATCATCATT	0.398													23	80					0	0	1	0	0	G	44360381	A	G	44360381	3	3	81	1	0	0	0	0	1	0	0	0	13881	333	12	3	192	3	SAMM50	22	44360381	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	31419	44360381	6944185	14840	18456											
LDOC1L	84247	broad.mit.edu	37	22	44892750	44892750	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:44892750C>T	ENST00000341255.3	-	2	1196	c.687G>A	c.(685-687)gcG>gcA	p.A229A		NM_032287.2	NP_115663.2	Q6ICC9	LDOCL_HUMAN	leucine zipper, down-regulated in cancer 1-like	229										breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(3)|prostate(2)	11		Ovarian(80;0.024)|all_neural(38;0.0416)		LUAD - Lung adenocarcinoma(64;0.0161)		GCAGGGCTGGCGCTGGACTAG	0.617													36	59					0	0	1	0	0	T	44892750	C	T	44892750	2	4	81	1	0	0	0	0	0	0	0	1	8749	755	27	1		1	LDOC1L	22	44892750	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	532369	44892750	6411816	14841	18457											
LDOC1L	84247	broad.mit.edu	37	22	44892773	44892773	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:44892773C>T	ENST00000341255.3	-	2	1173	c.664G>A	c.(664-666)Gct>Act	p.A222T		NM_032287.2	NP_115663.2	Q6ICC9	LDOCL_HUMAN	leucine zipper, down-regulated in cancer 1-like	222										breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(3)|prostate(2)	11		Ovarian(80;0.024)|all_neural(38;0.0416)		LUAD - Lung adenocarcinoma(64;0.0161)		CCGTTGGAAGCTGGATGCACT	0.617													28	47					0	0	1	0	0	T	44892773	C	T	44892773	3	4	81	1	0	0	0	0	1	0	0	0	8749	797	28	2	59	2	LDOC1L	22	44892773	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	23	44892773	6411793	14842	18458											
PRR5	55615	broad.mit.edu	37	22	45110540	45110540	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:45110540C>T	ENST00000403581.1	+	4	882	c.273C>T	c.(271-273)aaC>aaT	p.N91N	PRR5_ENST00000006251.7_Silent_p.N59N|PRR5-ARHGAP8_ENST00000352766.7_Silent_p.N68N|ARHGAP8_ENST00000517296.3_Silent_p.N68N|PRR5_ENST00000336985.6_Silent_p.N68N|PRR5-ARHGAP8_ENST00000361473.5_Silent_p.N68N|PRR5_ENST00000477331.1_3'UTR|ARHGAP8_ENST00000389773.5_Silent_p.N59N	NM_001198721.1	NP_001185650.1			proline rich 5 (renal)											central_nervous_system(1)|endometrium(2)|lung(6)|prostate(1)|skin(1)	11		all_neural(38;0.00409)|Ovarian(80;0.024)|Glioma(61;0.0647)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)		TCAGCCTCAACGAGGGCGTCC	0.662													22	43					0	0	1	0	0	T	45110540	C	T	45110540	2	4	81	1	0	0	0	0	0	0	0	1	12650	535	19	1		1	PRR5	22	45110540	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	217767	45110540	6194026	14843	18459											
PHF21B	112885	broad.mit.edu	37	22	45309846	45309846	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:45309846G>A	ENST00000313237.5	-	5	837	c.687C>T	c.(685-687)ttC>ttT	p.F229F	PHF21B_ENST00000404079.2_Intron|PHF21B_ENST00000447824.3_Intron|PHF21B_ENST00000396103.3_Intron|PHF21B_ENST00000403565.1_Intron	NM_138415.4	NP_612424.1	Q96EK2	PF21B_HUMAN	PHD finger protein 21B	229							zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(14)|ovary(2)|prostate(1)|skin(2)	25		all_neural(38;0.00802)|Glioma(61;0.0353)|Ovarian(80;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0203)		TGATGACCTGGAAGATGCCAT	0.647													37	44					0	0	1	0	0	A	45309846	G	A	45309846	2	1	81	1	0	0	0	0	0	0	0	1	11882	1165	41	2		2	PHF21B	22	45309846	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	199306	45309846	5994720	14844	18460											
UPK3A	7380	broad.mit.edu	37	22	45681909	45681909	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:45681909G>A	ENST00000216211.4	+	2	172	c.140G>A	c.(139-141)tGc>tAc	p.C47Y	UPK3A_ENST00000396082.2_Missense_Mutation_p.C47Y	NM_006953.3	NP_008884.1	O75631	UPK3A_HUMAN	uroplakin 3A	47					epithelial cell differentiation	endoplasmic reticulum membrane|integral to membrane				kidney(1)|large_intestine(1)|lung(2)|skin(1)	5		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		AAGCCTCTCTGCATGTTTGAC	0.572													18	38					0	0	1	0	0	A	45681909	G	A	45681909	3	1	81	1	0	0	0	0	1	0	0	0	17070	1319	46	2	146	2	UPK3A	22	45681909	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	372063	45681909	5622657	14845	18461											
UPK3A	7380	broad.mit.edu	37	22	45689190	45689190	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:45689190C>A	ENST00000216211.4	+	5	732	c.700C>A	c.(700-702)Ctc>Atc	p.L234I	UPK3A_ENST00000396082.2_Missense_Mutation_p.L113I	NM_006953.3	NP_008884.1	O75631	UPK3A_HUMAN	uroplakin 3A	234					epithelial cell differentiation	endoplasmic reticulum membrane|integral to membrane				kidney(1)|large_intestine(1)|lung(2)|skin(1)	5		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		TGCCCTCAGCCTCGTGTAAGT	0.627													5	60					8.12818e-05	8.94031e-05	1	1	0	A	45689190	C	A	45689190	3	1	81	1	0	0	0	0	1	0	0	0	17070	681	24	4	718	4	UPK3A	22	45689190	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	7281	45689190	5615376	14846	18462											
FAM118A	55007	broad.mit.edu	37	22	45728465	45728465	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:45728465T>C	ENST00000216214.3	+	7	1645	c.811T>C	c.(811-813)Ttc>Ctc	p.F271L	FAM118A_ENST00000405548.3_Missense_Mutation_p.F89L|FAM118A_ENST00000441876.2_Missense_Mutation_p.F271L	NM_001104595.1	NP_001098065.1	Q9NWS6	F118A_HUMAN	family with sequence similarity 118, member A	271						integral to membrane				endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	11		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		TGAAGACCATTTCTTTAAGCA	0.463													38	57					0	0	1	0	0	C	45728465	T	C	45728465	3	2	81	1	0	0	0	0	1	0	0	0	5442	1841	64	3	829	3	FAM118A	22	45728465	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	39275	45728465	5576101	14847	18463											
SMC1B	27127	broad.mit.edu	37	22	45768173	45768173	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:45768173C>A	ENST00000357450.4	-	13	2058		c.e13-1		SMC1B_ENST00000404354.3_Splice_Site	NM_148674.3	NP_683515.3	Q8NDV3	SMC1B_HUMAN	structural maintenance of chromosomes 1B						chromosome organization|meiosis	chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus	ATP binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		TCATTAAACCCTAAAAGGAAA	0.318													21	17					1.40151e-16	1.80007e-16	1	1	0	A	45768173	C	A	45768173	5	1	81	1	0	0	0	0	0	0	1	0	14836	695	24	4	1701	4	SMC1B	22	45768173	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	39708	45768173	5536393	14848	18464											
SMC1B	27127	broad.mit.edu	37	22	45779484	45779484	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:45779484G>T	ENST00000357450.4	-	12	1920	c.1921C>A	c.(1921-1923)Ctt>Att	p.L641I	SMC1B_ENST00000404354.3_Missense_Mutation_p.L641I	NM_148674.3	NP_683515.3	Q8NDV3	SMC1B_HUMAN	structural maintenance of chromosomes 1B	641	Flexible hinge.				chromosome organization|meiosis	chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus	ATP binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		GTTCCATCAAGAGCTACTGTC	0.318													4	57					0.000602214	0.000646338	1	1	0	T	45779484	G	T	45779484	3	4	81	1	0	0	0	0	1	0	0	0	14836	942	33	4	1842	4	SMC1B	22	45779484	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	11311	45779484	5525082	14849	18465											
SMC1B	27127	broad.mit.edu	37	22	45785689	45785689	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:45785689A>G	ENST00000357450.4	-	10	1633	c.1634T>C	c.(1633-1635)aTt>aCt	p.I545T	SMC1B_ENST00000404354.3_Missense_Mutation_p.I545T	NM_148674.3	NP_683515.3	Q8NDV3	SMC1B_HUMAN	structural maintenance of chromosomes 1B	545	Flexible hinge.				chromosome organization|meiosis	chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus	ATP binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		GGCTACAACAATGGCAGTGAT	0.413													12	107					0	0	1	0	0	G	45785689	A	G	45785689	3	3	81	1	0	0	0	0	1	0	0	0	14836	101	4	3	2137	3	SMC1B	22	45785689	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	6205	45785689	5518877	14850	18466											
SMC1B	27127	broad.mit.edu	37	22	45802461	45802461	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:45802461T>C	ENST00000357450.4	-	4	494	c.495A>G	c.(493-495)atA>atG	p.I165M	SMC1B_ENST00000404354.3_Missense_Mutation_p.I165M	NM_148674.3	NP_683515.3	Q8NDV3	SMC1B_HUMAN	structural maintenance of chromosomes 1B	165					chromosome organization|meiosis	chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus	ATP binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		CATATTCTCCTATAAGCTCTC	0.358													24	45					0	0	1	0	0	C	45802461	T	C	45802461	3	2	81	1	0	0	0	0	1	0	0	0	14836	1512	53	3	3300	3	SMC1B	22	45802461	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	16772	45802461	5502105	14851	18467											
RIBC2	26150	broad.mit.edu	37	22	45826798	45826798	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:45826798C>T	ENST00000342894.3	+	6	1117	c.703C>T	c.(703-705)Cgc>Tgc	p.R235C	RIBC2_ENST00000538017.1_Missense_Mutation_p.R303C|RIBC2_ENST00000466226.1_3'UTR			Q9H4K1	RIBC2_HUMAN	RIB43A domain with coiled-coils 2	235										NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|skin(2)|urinary_tract(1)	10		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		GGAAGAAAAGCGCCAGCGAGA	0.652													6	5					0	0	1	0	0	T	45826798	C	T	45826798	3	4	81	1	0	0	0	0	1	0	0	0	13403	768	27	1	928	1	RIBC2	22	45826798	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	24337	45826798	5477768	14852	18468											
ATXN10	25814	broad.mit.edu	37	22	46125390	46125390	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:46125390G>A	ENST00000252934.5	+	7	1079	c.814G>A	c.(814-816)Gct>Act	p.A272T	ATXN10_ENST00000381061.4_Missense_Mutation_p.A208T	NM_013236.3	NP_037368.1	Q9UBB4	ATX10_HUMAN	ataxin 10	272					cell death|neuron projection development	dendrite|neuronal cell body|perinuclear region of cytoplasm				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	10		Ovarian(80;0.00973)|all_neural(38;0.0417)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0223)		TTTGCGGCATGCTGAGTTGAT	0.478													27	66					0	0	1	0	0	A	46125390	G	A	46125390	3	1	81	1	0	0	0	0	1	0	0	0	1208	1319	46	2	840	2	ATXN10	22	46125390	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	298592	46125390	5179176	14853	18469											
PPARA	5465	broad.mit.edu	37	22	46594465	46594465	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:46594465G>A	ENST00000396000.2	+	3	450	c.185G>A	c.(184-186)gGc>gAc	p.G62D	PPARA_ENST00000262735.5_Missense_Mutation_p.G62D|PPARA_ENST00000402126.1_Missense_Mutation_p.G62D|PPARA_ENST00000434345.2_Missense_Mutation_p.G62D|PPARA_ENST00000407236.1_Missense_Mutation_p.G62D			Q07869	PPARA_HUMAN	peroxisome proliferator-activated receptor alpha	62					fatty acid metabolic process|fatty acid transport|negative regulation of appetite|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fatty acid beta-oxidation|regulation of cellular ketone metabolic process by positive regulation of transcription from an RNA polymerase II promoter|regulation of glycolysis by positive regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by positive regulation of transcription from an RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	drug binding|ligand-regulated transcription factor activity|lipid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|ubiquitin conjugating enzyme binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	15		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00522)	Atorvastatin(DB01076)|Bezafibrate(DB01393)|Clofibrate(DB00636)|Fenofibrate(DB01039)|Gemfibrozil(DB01241)|Simvastatin(DB00641)	AGCTGTCCTGGCTCAGATGGC	0.418													5	55					0	0	1	0	0	A	46594465	G	A	46594465	3	1	81	1	0	0	0	0	1	0	0	0	12342	1203	42	2	187	2	PPARA	22	46594465	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	469075	46594465	4710101	14854	18470											
PPARA	5465	broad.mit.edu	37	22	46614215	46614215	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:46614215G>T	ENST00000396000.2	+	5	690	c.425G>T	c.(424-426)aGc>aTc	p.S142I	PPARA_ENST00000262735.5_Missense_Mutation_p.S142I|PPARA_ENST00000402126.1_Missense_Mutation_p.S142I|PPARA_ENST00000434345.2_Missense_Mutation_p.S142I|PPARA_ENST00000407236.1_Missense_Mutation_p.S142I			Q07869	PPARA_HUMAN	peroxisome proliferator-activated receptor alpha	142					fatty acid metabolic process|fatty acid transport|negative regulation of appetite|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fatty acid beta-oxidation|regulation of cellular ketone metabolic process by positive regulation of transcription from an RNA polymerase II promoter|regulation of glycolysis by positive regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by positive regulation of transcription from an RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	drug binding|ligand-regulated transcription factor activity|lipid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|ubiquitin conjugating enzyme binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	15		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00522)	Atorvastatin(DB01076)|Bezafibrate(DB01393)|Clofibrate(DB00636)|Fenofibrate(DB01039)|Gemfibrozil(DB01241)|Simvastatin(DB00641)	TGCGACCGCAGCTGCAAGATC	0.493													8	54					1.06961e-07	1.25755e-07	1	1	0	T	46614215	G	T	46614215	3	4	81	1	0	0	0	0	1	0	0	0	12342	971	34	4	435	4	PPARA	22	46614215	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	19750	46614215	4690351	14855	18471											
PKDREJ	10343	broad.mit.edu	37	22	46652821	46652821	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:46652821G>T	ENST00000253255.5	-	1	6398	c.6399C>A	c.(6397-6399)gtC>gtA	p.V2133V		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	2133					acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		GGAAAGCTGAGACACAATAGG	0.413													16	34					6.94344e-10	8.44171e-10	1	1	0	T	46652821	G	T	46652821	2	4	81	1	0	0	0	0	0	0	0	1	12018	929	33	4		4	PKDREJ	22	46652821	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	38606	46652821	4651745	14856	18472											
PKDREJ	10343	broad.mit.edu	37	22	46654856	46654856	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:46654856G>A	ENST00000253255.5	-	1	4363	c.4364C>T	c.(4363-4365)cCt>cTt	p.P1455L		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	1455					acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		ATCCGCTTGAGGTTTCCTCTG	0.383													8	128					0	0	1	0	0	A	46654856	G	A	46654856	3	1	81	1	0	0	0	0	1	0	0	0	12018	1000	35	2	2401	2	PKDREJ	22	46654856	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2035	46654856	4649710	14857	18473											
PKDREJ	10343	broad.mit.edu	37	22	46655314	46655314	+	Silent	SNP	G	G	A	rs150338973	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:46655314G>A	ENST00000253255.5	-	1	3905	c.3906C>T	c.(3904-3906)aaC>aaT	p.N1302N		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	1302	PLAT.				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		ATCGACCCTCGTTGTTGTGCC	0.453													36	47					0	0	1	0	0	A	46655314	G	A	46655314	2	1	81	1	0	0	0	0	0	0	0	1	12018	1136	40	1		1	PKDREJ	22	46655314	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	458	46655314	4649252	14858	18474											
TTC38	55020	broad.mit.edu	37	22	46677495	46677495	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:46677495G>T	ENST00000381031.3	+	7	691		c.e7-1		TTC38_ENST00000445282.2_Splice_Site	NM_017931.2	NP_060401	Q5R3I4	TTC38_HUMAN	tetratricopeptide repeat domain 38								binding			endometrium(4)|large_intestine(3)|lung(4)|ovary(1)	12						ACCCTGCGTAGGCTTTATCTA	0.577													20	60					4.63292e-17	5.96565e-17	1	1	0	T	46677495	G	T	46677495	5	4	81	1	0	0	0	0	0	0	1	0	16768	1014	35	4	641	4	TTC38	22	46677495	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	22181	46677495	4627071	14859	18475											
TTC38	55020	broad.mit.edu	37	22	46684453	46684453	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:46684453G>A	ENST00000381031.3	+	11	1126	c.1050G>A	c.(1048-1050)caG>caA	p.Q350Q	TTC38_ENST00000445282.2_Silent_p.Q292Q	NM_017931.2	NP_060401	Q5R3I4	TTC38_HUMAN	tetratricopeptide repeat domain 38	350							binding			endometrium(4)|large_intestine(3)|lung(4)|ovary(1)	12						AGACCACACAGGAGCTGCTGA	0.662													26	43					0	0	1	0	0	A	46684453	G	A	46684453	2	1	81	1	0	0	0	0	0	0	0	1	16768	991	35	2		2	TTC38	22	46684453	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	6958	46684453	4620113	14860	18476											
GTSE1	51512	broad.mit.edu	37	22	46704226	46704226	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:46704226G>T	ENST00000454366.1	+	4	360	c.148G>T	c.(148-150)Gat>Tat	p.D50Y		NM_016426.6	NP_057510	Q9NYZ3	GTSE1_HUMAN	G-2 and S-phase expressed 1	31					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2 phase of mitotic cell cycle|microtubule-based process	cytoplasmic microtubule				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	27		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00462)		TGCAAATGAAGATGATGAAGT	0.393													11	118					0.00829132	0.00865729	1	1	0	T	46704226	G	T	46704226	3	4	81	1	0	0	0	0	1	0	0	0	6926	942	33	4	158	4	GTSE1	22	46704226	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	19773	46704226	4600340	14861	18477											
GTSE1	51512	broad.mit.edu	37	22	46704517	46704517	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:46704517C>A	ENST00000454366.1	+	4	651	c.439C>A	c.(439-441)Ctc>Atc	p.L147I		NM_016426.6	NP_057510	Q9NYZ3	GTSE1_HUMAN	G-2 and S-phase expressed 1	128					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2 phase of mitotic cell cycle|microtubule-based process	cytoplasmic microtubule				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	27		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00462)		AAAAATAAACCTCTTTGAGAA	0.517													11	68					3.86212e-05	4.27865e-05	1	1	0	A	46704517	C	A	46704517	3	1	81	1	0	0	0	0	1	0	0	0	6926	681	24	4	449	4	GTSE1	22	46704517	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	291	46704517	4600049	14862	18478											
GTSE1	51512	broad.mit.edu	37	22	46712304	46712304	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:46712304C>A	ENST00000454366.1	+	7	1639	c.1427C>A	c.(1426-1428)tCt>tAt	p.S476Y		NM_016426.6	NP_057510	Q9NYZ3	GTSE1_HUMAN	G-2 and S-phase expressed 1	457					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2 phase of mitotic cell cycle|microtubule-based process	cytoplasmic microtubule		p.S457Y(1)		NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	27		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00462)		CCTAAGTTTTCTATTGGTGAG	0.294													61	83					4.48484e-38	6.01608e-38	1	1	0	A	46712304	C	A	46712304	3	1	81	1	0	0	0	0	1	0	0	0	6926	913	32	4	1449	4	GTSE1	22	46712304	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	7787	46712304	4592262	14863	18479											
TRMU	55687	broad.mit.edu	37	22	46733779	46733779	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:46733779G>T	ENST00000290846.4	+	2	526	c.186G>T	c.(184-186)caG>caT	p.Q62H	TRMU_ENST00000381019.3_Missense_Mutation_p.Q62H|TRMU_ENST00000424260.2_Missense_Mutation_p.Q27H	NM_018006.4	NP_060476.2	O75648	MTU1_HUMAN	tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase	62						mitochondrion	ATP binding|sulfurtransferase activity|tRNA (5-methylaminomethyl-2-thiouridylate)-methyltransferase activity|tRNA binding			NS(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)	10		Ovarian(80;0.00965)|Breast(42;0.0194)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00449)|LUAD - Lung adenocarcinoma(64;0.248)		GAGTTTGCCAGATCTTAGACA	0.478													9	95					0.000442599	0.000477972	1	1	0	T	46733779	G	T	46733779	3	4	81	1	0	0	0	0	1	0	0	0	16632	933	33	4	192	4	TRMU	22	46733779	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	21475	46733779	4570787	14864	18480											
CELSR1	9620	broad.mit.edu	37	22	46765670	46765670	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:46765670G>A	ENST00000262738.3	-	26	7790	c.7791C>T	c.(7789-7791)taC>taT	p.Y2597Y		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	2597					central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		CGGGGTTCCCGTAGCCCTGGG	0.637													11	33					0	0	1	0	0	A	46765670	G	A	46765670	2	1	81	1	0	0	0	0	0	0	0	1	3243	1140	40	1		1	CELSR1	22	46765670	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	31891	46765670	4538896	14865	18481											
CELSR1	9620	broad.mit.edu	37	22	46774548	46774548	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:46774548G>A	ENST00000262738.3	-	23	7322	c.7323C>T	c.(7321-7323)gtC>gtT	p.V2441V		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	2441	GPS.				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		ACTGGCAGGCGACATGTGTCC	0.657													4	4					0	0	1	0	0	A	46774548	G	A	46774548	2	1	81	1	0	0	0	0	0	0	0	1	3243	1045	37	1		1	CELSR1	22	46774548	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	8878	46774548	4530018	14866	18482											
CELSR1	9620	broad.mit.edu	37	22	46930126	46930126	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:46930126G>A	ENST00000262738.3	-	1	2941	c.2942C>T	c.(2941-2943)gCc>gTc	p.A981V	CELSR1_ENST00000395964.1_Missense_Mutation_p.A981V	NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	981	Cadherin 7.				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		TTCTACCGAGGCGCTAAGGGG	0.567													27	37					0	0	1	0	0	A	46930126	G	A	46930126	3	1	81	1	0	0	0	0	1	0	0	0	3243	1203	42	2	6242	2	CELSR1	22	46930126	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	155578	46930126	4374440	14867	18483											
CELSR1	9620	broad.mit.edu	37	22	46930540	46930540	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:46930540G>A	ENST00000262738.3	-	1	2527	c.2528C>T	c.(2527-2529)aCc>aTc	p.T843I	CELSR1_ENST00000395964.1_Missense_Mutation_p.T843I	NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	843	Cadherin 6.				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		GGTGTACATGGTGCCACTGTC	0.582													22	44					0	0	1	0	0	A	46930540	G	A	46930540	3	1	81	1	0	0	0	0	1	0	0	0	3243	1261	44	2	6656	2	CELSR1	22	46930540	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	414	46930540	4374026	14868	18484											
CELSR1	9620	broad.mit.edu	37	22	46931795	46931795	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:46931795G>A	ENST00000262738.3	-	1	1272	c.1273C>T	c.(1273-1275)Ctc>Ttc	p.L425F	CELSR1_ENST00000395964.1_Missense_Mutation_p.L425F	NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	425	Cadherin 2.				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		TCCACCAGGAGCTGGTACTCG	0.682													6	13					0	0	1	0	0	A	46931795	G	A	46931795	3	1	81	1	0	0	0	0	1	0	0	0	3243	971	34	2	7911	2	CELSR1	22	46931795	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1255	46931795	4372771	14869	18485											
TBC1D22A	25771	broad.mit.edu	37	22	47189693	47189693	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:47189693C>T	ENST00000337137.4	+	3	581	c.415C>T	c.(415-417)Cgg>Tgg	p.R139W	TBC1D22A_ENST00000380995.1_Missense_Mutation_p.R92W|TBC1D22A_ENST00000355704.3_Missense_Mutation_p.R120W|TBC1D22A_ENST00000406733.1_Missense_Mutation_p.R92W|TBC1D22A_ENST00000407381.3_Missense_Mutation_p.R139W	NM_001284304.1|NM_001284305.1|NM_014346.2	NP_001271233.1|NP_001271234.1|NP_055161.1	Q8WUA7	TB22A_HUMAN	TBC1 domain family, member 22A	139						intracellular	protein homodimerization activity|Rab GTPase activator activity			breast(1)|endometrium(3)|large_intestine(10)|lung(5)|ovary(2)|prostate(1)	22		all_cancers(38;4.44e-05)|all_epithelial(38;0.000507)|Breast(42;0.0488)|all_lung(38;0.0682)|Ovarian(80;0.0731)|all_neural(38;0.0966)|Glioma(61;0.222)|Lung SC(80;0.236)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0347)|BRCA - Breast invasive adenocarcinoma(115;0.231)		CGGCGACCTCCGGCTGGTGAA	0.667													3	2					0	0	1	0	0	T	47189693	C	T	47189693	3	4	81	1	0	0	0	0	1	0	0	0	15668	643	23	1	425	1	TBC1D22A	22	47189693	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	257898	47189693	4114873	14870	18486											
TBC1D22A	25771	broad.mit.edu	37	22	47290699	47290699	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:47290699G>A	ENST00000337137.4	+	7	1023	c.857G>A	c.(856-858)cGc>cAc	p.R286H	TBC1D22A_ENST00000380995.1_Missense_Mutation_p.R239H|TBC1D22A_ENST00000355704.3_Missense_Mutation_p.R208H|TBC1D22A_ENST00000406733.1_Missense_Mutation_p.R239H|TBC1D22A_ENST00000407381.3_Missense_Mutation_p.R227H	NM_001284304.1|NM_001284305.1|NM_014346.2	NP_001271233.1|NP_001271234.1|NP_055161.1	Q8WUA7	TB22A_HUMAN	TBC1 domain family, member 22A	286	Rab-GAP TBC.					intracellular	protein homodimerization activity|Rab GTPase activator activity			breast(1)|endometrium(3)|large_intestine(10)|lung(5)|ovary(2)|prostate(1)	22		all_cancers(38;4.44e-05)|all_epithelial(38;0.000507)|Breast(42;0.0488)|all_lung(38;0.0682)|Ovarian(80;0.0731)|all_neural(38;0.0966)|Glioma(61;0.222)|Lung SC(80;0.236)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0347)|BRCA - Breast invasive adenocarcinoma(115;0.231)		GACATCCCTCGCATGAGCCCT	0.502													27	45					0	0	1	0	0	A	47290699	G	A	47290699	3	1	81	1	0	0	0	0	1	0	0	0	15668	1087	38	1	883	1	TBC1D22A	22	47290699	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	101006	47290699	4013867	14871	18487											
TBC1D22A	25771	broad.mit.edu	37	22	47290733	47290733	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:47290733G>T	ENST00000337137.4	+	7	1057	c.891G>T	c.(889-891)aaG>aaT	p.K297N	TBC1D22A_ENST00000380995.1_Missense_Mutation_p.K250N|TBC1D22A_ENST00000355704.3_Missense_Mutation_p.K219N|TBC1D22A_ENST00000406733.1_Missense_Mutation_p.K250N|TBC1D22A_ENST00000407381.3_Missense_Mutation_p.K238N	NM_001284304.1|NM_001284305.1|NM_014346.2	NP_001271233.1|NP_001271234.1|NP_055161.1	Q8WUA7	TB22A_HUMAN	TBC1 domain family, member 22A	297	Rab-GAP TBC.					intracellular	protein homodimerization activity|Rab GTPase activator activity			breast(1)|endometrium(3)|large_intestine(10)|lung(5)|ovary(2)|prostate(1)	22		all_cancers(38;4.44e-05)|all_epithelial(38;0.000507)|Breast(42;0.0488)|all_lung(38;0.0682)|Ovarian(80;0.0731)|all_neural(38;0.0966)|Glioma(61;0.222)|Lung SC(80;0.236)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0347)|BRCA - Breast invasive adenocarcinoma(115;0.231)		TGCAGCCCAAGGTGACGGAGG	0.557													21	40					7.87624e-14	9.96214e-14	1	1	0	T	47290733	G	T	47290733	3	4	81	1	0	0	0	0	1	0	0	0	15668	991	35	4	917	4	TBC1D22A	22	47290733	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	34	47290733	4013833	14872	18488											
BRD1	23774	broad.mit.edu	37	22	50192750	50192750	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:50192750C>A	ENST00000216267.8	-	3	2028	c.1542G>T	c.(1540-1542)gaG>gaT	p.E514D	BRD1_ENST00000457780.2_Missense_Mutation_p.E514D|BRD1_ENST00000404034.1_Missense_Mutation_p.E514D|BRD1_ENST00000542442.1_Missense_Mutation_p.E207D|BRD1_ENST00000404760.1_Missense_Mutation_p.E514D|BRD1_ENST00000342989.5_Missense_Mutation_p.E109D	NM_014577.1	NP_055392.1	O95696	BRD1_HUMAN	bromodomain containing 1	514					histone H3 acetylation	MOZ/MORF histone acetyltransferase complex	zinc ion binding			endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	37		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)		CAGCCTTCATCTCCTCATCAT	0.572													4	42					0.00024832	0.000269806	1	1	0	A	50192750	C	A	50192750	3	1	81	1	0	0	0	0	1	0	0	0	1503	912	32	4	1674	4	BRD1	22	50192750	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2902017	50192750	1111816	14873	18489											
ZBED4	9889	broad.mit.edu	37	22	50277948	50277948	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:50277948C>T	ENST00000216268.5	+	2	1115	c.638C>T	c.(637-639)gCg>gTg	p.A213V		NM_014838.2	NP_055653.2	O75132	ZBED4_HUMAN	zinc finger, BED-type containing 4							cytoplasm|nucleus	DNA binding|metal ion binding|protein dimerization activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		CAGAAAGTGGCGTCTAAGATC	0.552													17	21					0	0	1	0	0	T	50277948	C	T	50277948	3	4	81	1	0	0	0	0	1	0	0	0	17579	768	27	1	640	1	ZBED4	22	50277948	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	85198	50277948	1026618	14874	18490											
ZBED4	9889	broad.mit.edu	37	22	50278317	50278317	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:50278317G>A	ENST00000216268.5	+	2	1484	c.1007G>A	c.(1006-1008)cGc>cAc	p.R336H		NM_014838.2	NP_055653.2	O75132	ZBED4_HUMAN	zinc finger, BED-type containing 4							cytoplasm|nucleus	DNA binding|metal ion binding|protein dimerization activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		AGGGCACACCGCGCCATCGTG	0.637													23	44					0	0	1	0	0	A	50278317	G	A	50278317	3	1	81	1	0	0	0	0	1	0	0	0	17579	1087	38	1	1009	1	ZBED4	22	50278317	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	369	50278317	1026249	14875	18491											
ZBED4	9889	broad.mit.edu	37	22	50278552	50278552	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:50278552C>A	ENST00000216268.5	+	2	1719	c.1242C>A	c.(1240-1242)ttC>ttA	p.F414L		NM_014838.2	NP_055653.2	O75132	ZBED4_HUMAN	zinc finger, BED-type containing 4							cytoplasm|nucleus	DNA binding|metal ion binding|protein dimerization activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		TGGCGGCCTTCTCATCTTCCG	0.587													5	62					0.0215528	0.0221217	1	1	0	A	50278552	C	A	50278552	3	1	81	1	0	0	0	0	1	0	0	0	17579	912	32	4	1244	4	ZBED4	22	50278552	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	235	50278552	1026014	14876	18492											
ZBED4	9889	broad.mit.edu	37	22	50279298	50279298	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:50279298C>G	ENST00000216268.5	+	2	2465	c.1988C>G	c.(1987-1989)gCt>gGt	p.A663G		NM_014838.2	NP_055653.2	O75132	ZBED4_HUMAN	zinc finger, BED-type containing 4							cytoplasm|nucleus	DNA binding|metal ion binding|protein dimerization activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		AGTCTCATAGCTGAAATGATT	0.458													9	81					0	0	1	0	0	G	50279298	C	G	50279298	3	3	81	1	0	0	0	0	1	0	0	0	17579	797	28	4	1990	4	ZBED4	22	50279298	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	746	50279298	1025268	14877	18493											
ZBED4	9889	broad.mit.edu	37	22	50279546	50279546	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:50279546C>A	ENST00000216268.5	+	2	2713	c.2236C>A	c.(2236-2238)Ctc>Atc	p.L746I		NM_014838.2	NP_055653.2	O75132	ZBED4_HUMAN	zinc finger, BED-type containing 4							cytoplasm|nucleus	DNA binding|metal ion binding|protein dimerization activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		GTACCTGACCCTCACGGCCCA	0.577													4	40					0.150653	0.152522	1	1	0	A	50279546	C	A	50279546	3	1	81	1	0	0	0	0	1	0	0	0	17579	681	24	4	2238	4	ZBED4	22	50279546	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	248	50279546	1025020	14878	18494											
ALG12	79087	broad.mit.edu	37	22	50304164	50304164	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:50304164C>T	ENST00000330817.6	-	4	660	c.387G>A	c.(385-387)atG>atA	p.M129I		NM_024105.3	NP_077010.1	Q9BV10	ALG12_HUMAN	ALG12, alpha-1,6-mannosyltransferase						dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	integral to membrane|intrinsic to endoplasmic reticulum membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(3)	12		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		BRCA - Breast invasive adenocarcinoma(115;0.199)|LUAD - Lung adenocarcinoma(64;0.247)		CCCAGCAGAACATGGTGGCCA	0.567													16	40					0	0	1	0	0	T	50304164	C	T	50304164	3	4	81	1	0	0	0	0	1	0	0	0	511	478	17	2	1107	2	ALG12	22	50304164	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	24618	50304164	1000402	14879	18495											
TTLL8	164714	broad.mit.edu	37	22	50479633	50479634	+	Frame_Shift_Ins	INS	-	-	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:50479633_50479634insG	ENST00000266182.6	-	8	902_903	c.903_904insC	c.(901-906)cccacafs	p.T302fs	TTLL8_ENST00000440475.1_Intron					tubulin tyrosine ligase-like family, member 8											NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(4)	12		all_cancers(38;3.44e-07)|all_epithelial(38;2.44e-06)|all_lung(38;0.00141)|Breast(42;0.00519)|Lung NSC(38;0.0199)|Ovarian(80;0.142)|Lung SC(80;0.162)		READ - Rectum adenocarcinoma(2;0.000882)|Colorectal(2;0.00311)|BRCA - Breast invasive adenocarcinoma(115;0.226)		TCTCGGGCTGTGGGGGGCTCAA	0.559													9	107	---	---	---	---						G	50479634	-	G	50479633	7	5	81	1	0	1	1	0	0	0	0	0	16795	1696	59	0	1627	0	TTLL8	22	50479633	Frame_Shift_Ins	INS	-	TCGA-DU-6392-01A-11D-1705-08	175469	50479633	824933	14880	18496											
MLC1	23209	broad.mit.edu	37	22	50502619	50502619	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:50502619G>A	ENST00000311597.5	-	11	1509	c.903C>T	c.(901-903)taC>taT	p.Y301Y	MLC1_ENST00000395876.2_Silent_p.Y301Y|MLC1_ENST00000538737.1_Silent_p.Y267Y|MLC1_ENST00000450140.2_Silent_p.Y249Y|MLC1_ENST00000483836.1_5'UTR|MLC1_ENST00000431262.2_Silent_p.Y271Y|MLC1_ENST00000535444.1_Silent_p.Y222Y	NM_015166.3	NP_055981.1	Q15049	MLC1_HUMAN	megalencephalic leukoencephalopathy with subcortical cysts 1	301						basolateral plasma membrane|endosome|integral to membrane|integral to membrane of membrane fraction	ion channel activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|pancreas(1)|prostate(3)	18		all_cancers(38;7.69e-11)|all_epithelial(38;9.52e-10)|all_lung(38;3.67e-05)|Breast(42;0.000776)|Lung NSC(38;0.000946)|Ovarian(80;0.0365)|Lung SC(80;0.113)		READ - Rectum adenocarcinoma(2;0.000669)|Colorectal(2;0.00242)|LUAD - Lung adenocarcinoma(64;0.0695)|BRCA - Breast invasive adenocarcinoma(115;0.216)		gcagcaCATCGTAGGATGGCT	0.652													5	7					0	0	1	0	0	A	50502619	G	A	50502619	2	1	81	1	0	0	0	0	0	0	0	1	9660	1140	40	1		1	MLC1	22	50502619	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	22986	50502619	801947	14881	18497											
MOV10L1	54456	broad.mit.edu	37	22	50552133	50552133	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:50552133A>G	ENST00000262794.5	+	6	883	c.800A>G	c.(799-801)aAc>aGc	p.N267S	MOV10L1_ENST00000540615.1_Missense_Mutation_p.N247S|MOV10L1_ENST00000395843.1_5'UTR|MOV10L1_ENST00000395858.3_Missense_Mutation_p.N267S|MOV10L1_ENST00000545383.1_Missense_Mutation_p.N267S	NM_018995.2	NP_061868.1	Q9BXT6	M10L1_HUMAN	Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse)	267					germ cell development|multicellular organismal development|spermatogenesis		ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding			breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		TTGCTGAAGAACAAAGGTGAT	0.463													10	70					0	0	1	0	0	G	50552133	A	G	50552133	3	3	81	1	0	0	0	0	1	0	0	0	9768	43	2	3	863	3	MOV10L1	22	50552133	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	49514	50552133	752433	14882	18498											
MOV10L1	54456	broad.mit.edu	37	22	50558970	50558970	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:50558970T>C	ENST00000262794.5	+	10	1577	c.1494T>C	c.(1492-1494)taT>taC	p.Y498Y	MOV10L1_ENST00000540615.1_Silent_p.Y478Y|MOV10L1_ENST00000395843.1_5'UTR|MOV10L1_ENST00000395858.3_Silent_p.Y498Y|MOV10L1_ENST00000545383.1_Silent_p.Y498Y	NM_018995.2	NP_061868.1	Q9BXT6	M10L1_HUMAN	Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse)	498					germ cell development|multicellular organismal development|spermatogenesis		ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding			breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		TTCCCCAATATCCAATCCCAG	0.378													8	126					0	0	1	0	0	C	50558970	T	C	50558970	2	2	81	1	0	0	0	0	0	0	0	1	9768	1442	50	3		3	MOV10L1	22	50558970	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	6837	50558970	745596	14883	18499											
PANX2	56666	broad.mit.edu	37	22	50617667	50617667	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:50617667C>T	ENST00000159647.5	+	4	1910	c.1910C>T	c.(1909-1911)tCg>tTg	p.S637L	PANX2_ENST00000395842.2_Silent_p.F665F	NM_001160300.1	NP_001153772.1	Q96RD6	PANX2_HUMAN	pannexin 2	0					protein hexamerization|synaptic transmission	gap junction|integral to membrane	gap junction hemi-channel activity|ion channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(1)|skin(1)	7		all_cancers(38;1.14e-10)|all_epithelial(38;2.12e-09)|all_lung(38;7.01e-05)|Breast(42;0.000523)|Lung NSC(38;0.0018)|Ovarian(80;0.0365)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.105)		TCGCCACCTTCGACGAGCCGA	0.692													3	21					0	0	1	0	0	T	50617667	C	T	50617667	3	4	81	1	0	0	0	0	1	0	0	0	11468	893	31	1	2005	1	PANX2	22	50617667	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	58697	50617667	686899	14884	18500											
SELO	83642	broad.mit.edu	37	22	50649116	50649116	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:50649116G>T	ENST00000380903.2	+	5	1185	c.1127G>T	c.(1126-1128)aGc>aTc	p.S376I	SELO_ENST00000492092.1_3'UTR	NM_031454.1	NP_113642.1	Q9BVL4	SELO_HUMAN															all_cancers(38;1.14e-10)|all_epithelial(38;2.12e-09)|all_lung(38;7.01e-05)|Breast(42;0.000523)|Lung NSC(38;0.0018)|Ovarian(80;0.0365)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.105)		TACGCGTACAGCAAGCAGCCC	0.682											OREG0026676	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	56					0.0215528	0.0221217	1	1	0	T	50649116	G	T	50649116	3	4	81	1	0	0	0	0	1	0	0	0	14072	971	34	4	1145	4	SELO	22	50649116	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	31449	50649116	655450	14885	18501											
TUBGCP6	85378	broad.mit.edu	37	22	50656511	50656511	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:50656511T>G	ENST00000248846.5	-	24	5308	c.5204A>C	c.(5203-5205)aAc>aCc	p.N1735T	TUBGCP6_ENST00000439308.2_3'UTR|TUBGCP6_ENST00000491449.1_5'UTR			Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	1735					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		GTGGATGACGTTCATGACGGG	0.706													22	47					0	0	1	0	0	G	50656511	T	G	50656511	3	3	81	1	0	0	0	0	1	0	0	0	16832	1725	60	5	263	5	TUBGCP6	22	50656511	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	7395	50656511	648055	14886	18502											
HDAC10	83933	broad.mit.edu	37	22	50688893	50688893	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:50688893G>A	ENST00000216271.5	-	3	606	c.254C>T	c.(253-255)gCg>gTg	p.A85V	MAPK12_ENST00000497036.1_5'UTR|HDAC10_ENST00000349505.4_Missense_Mutation_p.A85V|HDAC10_ENST00000498366.1_Intron|HDAC10_ENST00000448072.1_Missense_Mutation_p.A85V	NM_001159286.1|NM_032019.5	NP_001152758.1|NP_114408.3	Q969S8	HDA10_HUMAN	histone deacetylase 10	85	Histone deacetylase.				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|nucleus	histone deacetylase activity|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)			endometrium(2)|kidney(2)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	8		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		TCCGGACAGCGCCTGCAGCTC	0.617													22	37					0	0	1	0	0	A	50688893	G	A	50688893	3	1	81	1	0	0	0	0	1	0	0	0	7046	1087	38	1	1827	1	HDAC10	22	50688893	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	32382	50688893	615673	14887	18503											
MAPK12	6300	broad.mit.edu	37	22	50694529	50694529	+	Missense_Mutation	SNP	G	G	A	rs2230823	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:50694529G>A	ENST00000215659.8	-	7	919	c.604C>T	c.(604-606)Cgc>Tgc	p.R202C	MAPK12_ENST00000395780.1_Missense_Mutation_p.R112C|MAPK12_ENST00000497036.1_5'UTR	NM_002969.3	NP_002960.2	P53778	MK12_HUMAN	mitogen-activated protein kinase 12	202	Protein kinase.			MR -> IA (in Ref. 1; CAA55984).	cell cycle arrest|DNA damage induced protein phosphorylation|muscle organ development|myoblast differentiation|nerve growth factor receptor signaling pathway|positive regulation of muscle cell differentiation|Ras protein signal transduction	mitochondrion|nucleoplasm	ATP binding|magnesium ion binding|MAP kinase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)	8		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		TGCGTGTAGCGCATCCAATTC	0.612													21	28					0	0	1	0	0	A	50694529	G	A	50694529	3	1	81	1	0	0	0	0	1	0	0	0	9324	1087	38	1	523	1	MAPK12	22	50694529	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	5636	50694529	610037	14888	18504											
PLXNB2	23654	broad.mit.edu	37	22	50718975	50718975	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:50718975A>T	ENST00000449103.1	-	25	4258	c.4118T>A	c.(4117-4119)tTc>tAc	p.F1373Y	PLXNB2_ENST00000359337.4_Missense_Mutation_p.F1373Y			O15031	PLXB2_HUMAN	plexin B2	1373					regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GAGCTCCAGGAAGAGCGTGTG	0.672													10	59					0	0	1	0	0	T	50718975	A	T	50718975	3	4	81	1	0	0	0	0	1	0	0	0	12172	246	9	5	1450	5	PLXNB2	22	50718975	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	24446	50718975	585591	14889	18505											
PLXNB2	23654	broad.mit.edu	37	22	50719202	50719202	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:50719202G>T	ENST00000449103.1	-	24	4104	c.3964C>A	c.(3964-3966)Ctg>Atg	p.L1322M	PLXNB2_ENST00000359337.4_Missense_Mutation_p.L1322M			O15031	PLXB2_HUMAN	plexin B2	1322					regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CTGTTCAGCAGGTTGGAGAAC	0.662													7	19					1.06961e-07	1.25755e-07	1	1	0	T	50719202	G	T	50719202	3	4	81	1	0	0	0	0	1	0	0	0	12172	991	35	4	1608	4	PLXNB2	22	50719202	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	227	50719202	585364	14890	18506											
PLXNB2	23654	broad.mit.edu	37	22	50722625	50722625	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:50722625G>A	ENST00000449103.1	-	13	2339	c.2199C>T	c.(2197-2199)aaC>aaT	p.N733N	PLXNB2_ENST00000359337.4_Silent_p.N733N|PLXNB2_ENST00000496720.1_5'UTR			O15031	PLXB2_HUMAN	plexin B2	733					regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GCAGCGTCTCGTTGGCATCGT	0.682													7	65					0	0	1	0	0	A	50722625	G	A	50722625	2	1	81	1	0	0	0	0	0	0	0	1	12172	1136	40	1		1	PLXNB2	22	50722625	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	3423	50722625	581941	14891	18507											
PLXNB2	23654	broad.mit.edu	37	22	50727510	50727510	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:50727510T>A	ENST00000449103.1	-	4	1270	c.1130A>T	c.(1129-1131)gAc>gTc	p.D377V	PLXNB2_ENST00000359337.4_Missense_Mutation_p.D377V			O15031	PLXB2_HUMAN	plexin B2	377	Sema.				regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		TCTGAGCCCGTCGCGGCTGCC	0.672													4	16					0	0	1	0	0	A	50727510	T	A	50727510	3	1	81	1	0	0	0	0	1	0	0	0	12172	1667	58	5	4522	5	PLXNB2	22	50727510	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	4885	50727510	577056	14892	18508											
SBF1	6305	broad.mit.edu	37	22	50898014	50898014	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:50898014G>A	ENST00000380817.3	-	27	3756	c.3573C>T	c.(3571-3573)cgC>cgT	p.R1191R	SBF1_ENST00000348911.6_Silent_p.R1192R|SBF1_ENST00000390679.3_Silent_p.R1191R	NM_002972.2	NP_002963.2	O95248	MTMR5_HUMAN	SET binding factor 1		Myotubularin phosphatase.				protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		CCACGGGGAAGCGGTTCTGGC	0.682													11	18					0	0	1	0	0	A	50898014	G	A	50898014	2	1	81	1	0	0	0	0	0	0	0	1	13911	958	34	2		2	SBF1	22	50898014	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	170504	50898014	406552	14893	18509											
SBF1	6305	broad.mit.edu	37	22	50898420	50898420	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:50898420C>T	ENST00000380817.3	-	26	3635	c.3452G>A	c.(3451-3453)cGc>cAc	p.R1151H	SBF1_ENST00000348911.6_Missense_Mutation_p.R1152H|SBF1_ENST00000390679.3_Missense_Mutation_p.R1151H	NM_002972.2	NP_002963.2	O95248	MTMR5_HUMAN	SET binding factor 1		Myotubularin phosphatase.				protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		CGGAGAAATGCGGAAGGGCTC	0.667													9	51					0	0	1	0	0	T	50898420	C	T	50898420	3	4	81	1	0	0	0	0	1	0	0	0	13911	768	27	1	2293	1	SBF1	22	50898420	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	406	50898420	406146	14894	18510											
SBF1	6305	broad.mit.edu	37	22	50900823	50900823	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:50900823G>A	ENST00000380817.3	-	19	2390	c.2207C>T	c.(2206-2208)aCt>aTt	p.T736I	SBF1_ENST00000348911.6_Missense_Mutation_p.T737I|SBF1_ENST00000390679.3_Missense_Mutation_p.T736I	NM_002972.2	NP_002963.2	O95248	MTMR5_HUMAN	SET binding factor 1						protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		ACGACTCAGAGTTGGCCACAA	0.627													14	77					0	0	1	0	0	A	50900823	G	A	50900823	3	1	81	1	0	0	0	0	1	0	0	0	13911	1029	36	2	3566	2	SBF1	22	50900823	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2403	50900823	403743	14895	18511											
SBF1	6305	broad.mit.edu	37	22	50905974	50905974	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:50905974G>A	ENST00000380817.3	-	4	608	c.425C>T	c.(424-426)aCg>aTg	p.T142M	SBF1_ENST00000348911.6_Missense_Mutation_p.T143M|SBF1_ENST00000390679.3_Missense_Mutation_p.T142M	NM_002972.2	NP_002963.2	O95248	MTMR5_HUMAN	SET binding factor 1		DENN.				protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		GAACACCTCCGTGTGGTCGAG	0.657													47	37					0	0	1	0	0	A	50905974	G	A	50905974	3	1	81	1	0	0	0	0	1	0	0	0	13911	1145	40	1	5408	1	SBF1	22	50905974	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	5151	50905974	398592	14896	18512											
SBF1	6305	broad.mit.edu	37	22	50906115	50906115	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:50906115G>A	ENST00000380817.3	-	4	467	c.284C>T	c.(283-285)aCg>aTg	p.T95M	SBF1_ENST00000348911.6_Missense_Mutation_p.T96M|SBF1_ENST00000390679.3_Missense_Mutation_p.T95M	NM_002972.2	NP_002963.2	O95248	MTMR5_HUMAN	SET binding factor 1						protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		CACGCGCGTCGTTTCCTGCTG	0.652													13	13					0	0	1	0	0	A	50906115	G	A	50906115	3	1	81	1	0	0	0	0	1	0	0	0	13911	1145	40	1	5549	1	SBF1	22	50906115	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	141	50906115	398451	14897	18513											
LMF2	91289	broad.mit.edu	37	22	50943312	50943312	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:50943312G>A	ENST00000216080.5	-	10	1449	c.1281C>T	c.(1279-1281)taC>taT	p.Y427Y	LMF2_ENST00000380796.3_Intron|LMF2_ENST00000474879.2_Silent_p.Y452Y			Q9BU23	LMF2_HUMAN	lipase maturation factor 2	452						endoplasmic reticulum membrane|integral to membrane				breast(1)|cervix(1)|kidney(1)|lung(4)|prostate(1)|skin(2)	10		all_cancers(38;1.31e-09)|all_epithelial(38;1.81e-08)|all_lung(38;0.000817)|Breast(42;0.00387)|Lung NSC(38;0.0124)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GGAAGAGGCCGTAGGAGTTGG	0.697													6	6					0	0	1	0	0	A	50943312	G	A	50943312	2	1	81	1	0	0	0	0	0	0	0	1	8887	1140	40	1		1	LMF2	22	50943312	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	37197	50943312	361254	14898	18514											
NCAPH2	29781	broad.mit.edu	37	22	50956563	50956563	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:50956563C>T	ENST00000395701.3	+	7	596	c.502C>T	c.(502-504)Cgt>Tgt	p.R168C	NCAPH2_ENST00000420993.2_Splice_Site_p.R168C|NCAPH2_ENST00000395698.3_Splice_Site_p.R168C|NCAPH2_ENST00000299821.11_Splice_Site_p.R168C			Q6IBW4	CNDH2_HUMAN	non-SMC condensin II complex, subunit H2	168					chromosome condensation	chromosome|nucleus				breast(1)|cervix(1)|endometrium(2)|kidney(3)|lung(10)|ovary(1)|prostate(2)|skin(3)|stomach(1)	24		all_cancers(38;4.58e-14)|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)		BRCA - Breast invasive adenocarcinoma(115;0.212)		CCAGCACAGCCGTCAGGGTGA	0.622													12	21					0	0	1	0	0	T	50956563	C	T	50956563	5	4	81	1	0	0	0	0	0	0	1	0	10257	666	23	1	528	1	NCAPH2	22	50956563	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	13251	50956563	348003	14899	18515											
KLHDC7B	113730	broad.mit.edu	37	22	50987806	50987806	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:50987806A>G	ENST00000395676.2	+	1	1345	c.1211A>G	c.(1210-1212)gAc>gGc	p.D404G		NM_138433.3	NP_612442.2	Q96G42	KLD7B_HUMAN	kelch domain containing 7B	404										central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	14		all_cancers(38;1.53e-10)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		OV - Ovarian serous cystadenocarcinoma(4;7.49e-69)|all cancers(3;9.79e-66)|Epithelial(4;1.3e-63)|GBM - Glioblastoma multiforme(4;0.000399)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GTGGCCCTGGACGGGCTGCTC	0.652													10	68					0	0	1	0	0	G	50987806	A	G	50987806	3	3	81	1	0	0	0	0	1	0	0	0	8404	275	10	3	1213	3	KLHDC7B	22	50987806	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	31243	50987806	316760	14900	18516											
CPT1B	1375	broad.mit.edu	37	22	51009825	51009825	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:51009825C>T	ENST00000360719.2	-	14	1856	c.1719G>A	c.(1717-1719)gcG>gcA	p.A573A	CPT1B_ENST00000405237.3_Silent_p.A573A|CPT1B_ENST00000395650.2_Silent_p.A573A|CPT1B_ENST00000434492.2_Silent_p.A368A|CPT1B_ENST00000440709.1_Silent_p.A492A|CHKB-CPT1B_ENST00000453634.1_3'UTR|CPT1B_ENST00000457250.1_Silent_p.A539A|CPT1B_ENST00000312108.7_Silent_p.A573A	NM_001145135.1|NM_152245.2	NP_001138607.1|NP_689451.1	Q92523	CPT1B_HUMAN	carnitine palmitoyltransferase 1B (muscle)	573					carnitine shuttle|fatty acid beta-oxidation|regulation of fatty acid oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		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)		all cancers(3;3.56e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.39e-74)|Epithelial(4;5.58e-70)|GBM - Glioblastoma multiforme(4;5.59e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.207)		CCAGCTGCAGCGCGATCTGCA	0.612													33	35					0	0	1	0	0	T	51009825	C	T	51009825	2	4	81	1	0	0	0	0	0	0	0	1	3855	755	27	1		1	CPT1B	22	51009825	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	22019	51009825	294741	14901	18517											
CHKB	1120	broad.mit.edu	37	22	51019850	51019850	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:51019850G>A	ENST00000406938.2	-	4	797	c.580C>T	c.(580-582)Cgg>Tgg	p.R194W	CHKB_ENST00000463053.1_5'UTR	NM_005198.4	NP_005189.2	Q9Y259	CHKB_HUMAN	choline kinase beta	194					phosphatidylethanolamine biosynthetic process		ATP binding|choline kinase activity|ethanolamine kinase activity			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(5)|ovary(3)|skin(1)|urinary_tract(1)	15		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)		all cancers(3;4.04e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.79e-74)|Epithelial(4;6.17e-70)|GBM - Glioblastoma multiforme(4;5.68e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.205)	Choline(DB00122)	CTGACTCACCGCTCCATGGTC	0.587													14	12					0	0	1	0	0	A	51019850	G	A	51019850	5	1	81	1	0	0	0	0	0	0	1	0	3370	1101	38	1	639	1	CHKB	22	51019850	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	10025	51019850	284716	14902	18518											
ARSA	410	broad.mit.edu	37	22	51065374	51065374	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:51065374G>A	ENST00000547307.1	-	3	971	c.566C>T	c.(565-567)gCg>gTg	p.A189V	ARSA_ENST00000356098.5_Missense_Mutation_p.A191V|ARSA_ENST00000395619.3_Missense_Mutation_p.A191V|ARSA_ENST00000216124.5_Missense_Mutation_p.A191V|ARSA_ENST00000395621.3_Missense_Mutation_p.A191V|ARSA_ENST00000453344.2_Missense_Mutation_p.A105V|ARSA_ENST00000547805.1_Missense_Mutation_p.A189V			P15289	ARSA_HUMAN	arylsulfatase A	189						lysosome	arylsulfatase activity|calcium ion binding|cerebroside-sulfatase activity			endometrium(1)|large_intestine(1)|lung(5)|pancreas(1)|skin(1)	9		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)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	Micafungin(DB01141)	GGGGGGCTGCGCCTCCACGGA	0.677													38	52					0	0	1	0	0	A	51065374	G	A	51065374	3	1	81	1	0	0	0	0	1	0	0	0	986	1087	38	1	981	1	ARSA	22	51065374	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	45524	51065374	239192	14903	18519											
SHANK3	85358	broad.mit.edu	37	22	51117811	51117811	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:51117811C>T	ENST00000414786.2	+	7	1067	c.840C>T	c.(838-840)aaC>aaT	p.N280N	SHANK3_ENST00000445220.2_Silent_p.N280N|SHANK3_ENST00000262795.3_Silent_p.N280N			F2Z3L0	F2Z3L0_HUMAN	SH3 and multiple ankyrin repeat domains 3	280										central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)	8		all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.22)		GGGCCCAGAACGCCTCGGGGA	0.612													14	20					0	0	1	0	0	T	51117811	C	T	51117811	2	4	81	1	0	0	0	0	0	0	0	1	14321	535	19	1		1	SHANK3	22	51117811	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	52437	51117811	186755	14904	18520											
SHANK3	85358	broad.mit.edu	37	22	51159495	51159495	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:51159495G>T	ENST00000414786.2	+	21	3419	c.3192G>T	c.(3190-3192)aaG>aaT	p.K1064N	SHANK3_ENST00000445220.2_Missense_Mutation_p.K1080N|SHANK3_ENST00000262795.3_Missense_Mutation_p.K1094N			F2Z3L0	F2Z3L0_HUMAN	SH3 and multiple ankyrin repeat domains 3	1094										central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)	8		all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.22)		CTGCCCTGAAGCCGTTGGTCA	0.726													6	8					0.0477658	0.0487066	1	1	0	T	51159495	G	T	51159495	3	4	81	1	0	0	0	0	1	0	0	0	14321	962	34	4	3368	4	SHANK3	22	51159495	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	41684	51159495	145071	14905	18521											
SHANK3	85358	broad.mit.edu	37	22	51160488	51160488	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:51160488G>T	ENST00000414786.2	+	21	4412	c.4185G>T	c.(4183-4185)aaG>aaT	p.K1395N	SHANK3_ENST00000445220.2_Missense_Mutation_p.K1411N|SHANK3_ENST00000262795.3_Missense_Mutation_p.K1425N			F2Z3L0	F2Z3L0_HUMAN	SH3 and multiple ankyrin repeat domains 3	1425										central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)	8		all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.22)		TACTCGAGAAGCCACCAGTGC	0.622													4	11					0.184627	0.18622	1	1	0	T	51160488	G	T	51160488	3	4	81	1	0	0	0	0	1	0	0	0	14321	962	34	4	4361	4	SHANK3	22	51160488	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	993	51160488	144078	14906	18522											
SHANK3	85358	broad.mit.edu	37	22	51160848	51160848	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:51160848G>A	ENST00000414786.2	+	21	4772	c.4545G>A	c.(4543-4545)tcG>tcA	p.S1515S	SHANK3_ENST00000445220.2_Silent_p.S1531S|SHANK3_ENST00000262795.3_Silent_p.S1545S			F2Z3L0	F2Z3L0_HUMAN	SH3 and multiple ankyrin repeat domains 3	1545										central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)	8		all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.22)		CCAAGAAGTCGCCCATCGCAG	0.652													11	16					0	0	1	0	0	A	51160848	G	A	51160848	2	1	81	1	0	0	0	0	0	0	0	1	14321	1074	38	1		1	SHANK3	22	51160848	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	360	51160848	143718	14907	18523											
ACR	49	broad.mit.edu	37	22	51182575	51182575	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:51182575C>T	ENST00000216139.5	+	4	692	c.652C>T	c.(652-654)Cgc>Tgc	p.R218C	ACR_ENST00000527761.1_3'UTR	NM_001097.2	NP_001088.2	P10323	ACRO_HUMAN	acrosin	218	Peptidase S1.				acrosome matrix dispersal|activation of adenylate cyclase activity	acrosomal matrix|protein complex	amidase activity|copper ion binding|DNA binding|drug binding|fucose binding|mannose binding|protein binding|serine-type endopeptidase activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|skin(1)	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)		BRCA - Breast invasive adenocarcinoma(115;1.1e-06)|LUAD - Lung adenocarcinoma(64;0.247)		GTACAATGGGCGCGTTCAGCC	0.572													6	94					0	0	1	0	0	T	51182575	C	T	51182575	3	4	81	1	0	0	0	0	1	0	0	0	169	768	27	1	666	1	ACR	22	51182575	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	21727	51182575	121991	14908	18524											
CRLF2	64109	broad.mit.edu	37	X	1314993	1314993	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:1314993G>A	ENST00000381567.3	-	6	667	c.668C>T	c.(667-669)aCg>aTg	p.T223M	CRLF2_ENST00000467626.1_5'UTR	NM_022148.2	NP_071431.2	Q9HC73	CRLF2_HUMAN	cytokine receptor-like factor 2	223						extracellular region|integral to membrane|plasma membrane	receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(10)|lung(9)	20		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				TTTGGGAGGCGTTGGTGTCTC	0.448			"Mis, T"	"P2RY8, IGH@"	"B-ALL, Downs associated ALL"								15	21					0	0	1	0	0	A	1314993	G	A	1314993	3	1	81	1	0	0	0	0	1	0	0	0	3910	1145	40	1	109	1	CRLF2	23	1314993	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08		1314993	153955567	14909	18525											
CSF2RA	1438	broad.mit.edu	37	X	1413223	1413223	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:1413223C>T	ENST00000381524.3	+	8	835	c.649C>T	c.(649-651)Cga>Tga	p.R217*	CSF2RA_ENST00000381509.3_Nonsense_Mutation_p.R217*|CSF2RA_ENST00000494969.2_Intron|CSF2RA_ENST00000498153.1_3'UTR|CSF2RA_ENST00000355805.2_Intron|CSF2RA_ENST00000501036.2_Nonsense_Mutation_p.R84*|CSF2RA_ENST00000361536.3_Nonsense_Mutation_p.R217*|CSF2RA_ENST00000355432.3_Nonsense_Mutation_p.R217*|CSF2RA_ENST00000381500.1_Nonsense_Mutation_p.R217*|CSF2RA_ENST00000417535.2_Nonsense_Mutation_p.R217*|CSF2RA_ENST00000381529.3_Nonsense_Mutation_p.R217*|CSF2RA_ENST00000432318.2_Nonsense_Mutation_p.R217*			P15509	CSF2R_HUMAN	colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)	217						extracellular region|integral to plasma membrane	cytokine receptor activity			central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	CGTTACAGAACGATTCAACCC	0.582													25	162					0	0	1	0	0	T	1413223	C	T	1413223	4	4	81	1	0	0	0	0	0	1	0	0	3959	528	19	1	671	1	CSF2RA	23	1413223	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	98230	1413223	153857337	14910	18526											
IL3RA	3563	broad.mit.edu	37	X	1464255	1464255	+	Silent	SNP	G	G	A	rs146307787		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:1464255G>A	ENST00000331035.4	+	3	460	c.111G>A	c.(109-111)caG>caA	p.Q37Q	IL3RA_ENST00000381469.2_Intron	NM_001267713.1|NM_002183.3	NP_001254642.1|NP_002174.1	P26951	IL3RA_HUMAN	interleukin 3 receptor, alpha (low affinity)	37						integral to membrane|plasma membrane	interleukin-3 receptor activity			lung(1)|skin(2)	3		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	CAAAGGCTCAGCAGTTGACCT	0.423													45	89					0	0	1	0	0	A	1464255	G	A	1464255	2	1	81	1	0	0	0	0	0	0	0	1	7739	962	34	2		2	IL3RA	23	1464255	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	51032	1464255	153806305	14911	18527											
IL3RA	3563	broad.mit.edu	37	X	1471117	1471117	+	Silent	SNP	C	C	T	rs142385163	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:1471117C>T	ENST00000331035.4	+	5	772	c.423C>T	c.(421-423)aaC>aaT	p.N141N	IL3RA_ENST00000381469.2_Silent_p.N63N	NM_001267713.1|NM_002183.3	NP_001254642.1|NP_002174.1	P26951	IL3RA_HUMAN	interleukin 3 receptor, alpha (low affinity)	141						integral to membrane|plasma membrane	interleukin-3 receptor activity			lung(1)|skin(2)	3		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	TGTACTTGAACGTTGCCAAGT	0.647													21	51					0	0	1	0	0	T	1471117	C	T	1471117	2	4	81	1	0	0	0	0	0	0	0	1	7739	535	19	1		1	IL3RA	23	1471117	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	6862	1471117	153799443	14912	18528											
IL3RA	3563	broad.mit.edu	37	X	1475123	1475123	+	Missense_Mutation	SNP	C	C	A	rs149064100		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:1475123C>A	ENST00000331035.4	+	7	975	c.626C>A	c.(625-627)aCt>aAt	p.T209N	IL3RA_ENST00000381469.2_Missense_Mutation_p.T131N	NM_001267713.1|NM_002183.3	NP_001254642.1|NP_002174.1	P26951	IL3RA_HUMAN	interleukin 3 receptor, alpha (low affinity)	209						integral to membrane|plasma membrane	interleukin-3 receptor activity			lung(1)|skin(2)	3		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	GAGATATTAACTCCACCCAAC	0.328													7	101					0.27861	0.279815	1	1	0	A	1475123	C	A	1475123	3	1	81	1	0	0	0	0	1	0	0	0	7739	565	20	4	648	4	IL3RA	23	1475123	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	4006	1475123	153795437	14913	18529											
IL3RA	3563	broad.mit.edu	37	X	1484094	1484094	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:1484094C>T	ENST00000331035.4	+	9	1172	c.823C>T	c.(823-825)Cgg>Tgg	p.R275W	IL3RA_ENST00000381469.2_Missense_Mutation_p.R197W	NM_001267713.1|NM_002183.3	NP_001254642.1|NP_002174.1	P26951	IL3RA_HUMAN	interleukin 3 receptor, alpha (low affinity)	275						integral to membrane|plasma membrane	interleukin-3 receptor activity	p.R275R(1)		lung(1)|skin(2)	3		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	AATAAGAGCCCGGGAAAGAGT	0.572													21	35					0	0	1	0	0	T	1484094	C	T	1484094	3	4	81	1	0	0	0	0	1	0	0	0	7739	643	23	1	853	1	IL3RA	23	1484094	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	8971	1484094	153786466	14914	18530											
SLC25A6	293	broad.mit.edu	37	X	1508334	1508334	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:1508334G>A	ENST00000381401.5	-	2	1112	c.398C>T	c.(397-399)cCg>cTg	p.P133L	SLC25A6_ENST00000475167.1_5'UTR	NM_001636.3	NP_001627.2	P12236	ADT3_HUMAN	solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 6	133					active induction of host immune response by virus|apoptosis|energy reserve metabolic process|regulation of insulin secretion|viral infectious cycle	integral to membrane|mitochondrial inner membrane presequence translocase complex	ATP:ADP antiporter activity|protein binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(8)|upper_aerodigestive_tract(1)	11		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Clodronate(DB00720)	GAAATCCAGCGGGTACACGAA	0.662													57	74					0	0	1	0	0	A	1508334	G	A	1508334	3	1	81	1	0	0	0	0	1	0	0	0	14568	1116	39	1	510	1	SLC25A6	23	1508334	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	24240	1508334	153762226	14915	18531											
P2RY8	286530	broad.mit.edu	37	X	1584701	1584701	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:1584701C>T	ENST00000381297.4	-	2	961	c.751G>A	c.(751-753)Gcc>Acc	p.A251T		NM_178129.4	NP_835230.1	Q86VZ1	P2RY8_HUMAN	purinergic receptor P2Y, G-protein coupled, 8	251						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)	23		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				TTGTTGGGGGCGAAGCAGGTG	0.657			T	CRLF2	"B-ALL, Downs associated ALL"								11	27					0	0	1	0	0	T	1584701	C	T	1584701	3	4	81	1	0	0	0	0	1	0	0	0	11402	768	27	1	332	1	P2RY8	23	1584701	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	76367	1584701	153685859	14916	18532											
P2RY8	286530	broad.mit.edu	37	X	1585028	1585028	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:1585028C>T	ENST00000381297.4	-	2	634	c.424G>A	c.(424-426)Gcc>Acc	p.A142T		NM_178129.4	NP_835230.1	Q86VZ1	P2RY8_HUMAN	purinergic receptor P2Y, G-protein coupled, 8	142						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	p.A142S(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)	23		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GCACACGCGGCCACCGCGTAA	0.682			T	CRLF2	"B-ALL, Downs associated ALL"								8	8					0	0	1	0	0	T	1585028	C	T	1585028	3	4	81	1	0	0	0	0	1	0	0	0	11402	739	26	2	659	2	P2RY8	23	1585028	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	327	1585028	153685532	14917	18533											
ZBED1	9189	broad.mit.edu	37	X	2406829	2406829	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:2406829C>A	ENST00000381223.4	-	2	2135	c.1932G>T	c.(1930-1932)caG>caT	p.Q644H	ZBED1_ENST00000381222.2_Missense_Mutation_p.Q644H|DHRSX_ENST00000334651.5_Intron|ZBED1_ENST00000381218.3_Missense_Mutation_p.Q644H|ZBED1_ENST00000515319.1_5'UTR	NM_001171135.1|NM_001171136.1|NM_004729.3	NP_001164606.1|NP_001164607.1|NP_004720.1	O96006	ZBED1_HUMAN	zinc finger, BED-type containing 1	644						nuclear chromosome	DNA binding|metal ion binding|protein dimerization activity|transposase activity			endometrium(8)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	25		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				ACAGAAACACCTGCTCGTCCA	0.682													25	89					6.32553e-13	7.94418e-13	1	1	0	A	2406829	C	A	2406829	3	1	81	1	0	0	0	0	1	0	0	0	17577	680	24	4	156	4	ZBED1	23	2406829	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	821801	2406829	152863731	14918	18534											
ZBED1	9189	broad.mit.edu	37	X	2407352	2407352	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:2407352T>C	ENST00000381223.4	-	2	1612	c.1409A>G	c.(1408-1410)aAc>aGc	p.N470S	ZBED1_ENST00000381222.2_Missense_Mutation_p.N470S|DHRSX_ENST00000334651.5_Intron|ZBED1_ENST00000381218.3_Missense_Mutation_p.N470S	NM_001171135.1|NM_001171136.1|NM_004729.3	NP_001164606.1|NP_001164607.1|NP_004720.1	O96006	ZBED1_HUMAN	zinc finger, BED-type containing 1	470						nuclear chromosome	DNA binding|metal ion binding|protein dimerization activity|transposase activity			endometrium(8)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	25		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GGTGGCCACGTTGAGAAACAT	0.612													55	77					0	0	1	0	0	C	2407352	T	C	2407352	3	2	81	1	0	0	0	0	1	0	0	0	17577	1725	60	3	679	3	ZBED1	23	2407352	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	523	2407352	152863208	14919	18535											
ZBED1	9189	broad.mit.edu	37	X	2408758	2408758	+	Translation_Start_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:2408758C>T	ENST00000381223.4	-	2	206	c.3G>A	c.(1-3)atG>atA	p.M1I	ZBED1_ENST00000381222.2_Start_Codon_SNP_p.M1I|DHRSX_ENST00000334651.5_Intron|ZBED1_ENST00000381218.3_Start_Codon_SNP_p.M1I	NM_001171135.1|NM_001171136.1|NM_004729.3	NP_001164606.1|NP_001164607.1|NP_004720.1	O96006	ZBED1_HUMAN	zinc finger, BED-type containing 1	1						nuclear chromosome	DNA binding|metal ion binding|protein dimerization activity|transposase activity			endometrium(8)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	25		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				TTTTATTCTCCATTGCTTCTC	0.597													45	75					0	0	1	0	0	T	2408758	C	T	2408758	1	4	81	1	0	0	0	0	0	0	0	0	17577	594	21	2		2	ZBED1	23	2408758	Translation_Start_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1406	2408758	152861802	14920	18536											
XG	7499	broad.mit.edu	37	X	2729409	2729409	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:2729409G>A	ENST00000426774.1	+	9	668	c.445G>A	c.(445-447)Gta>Ata	p.V149I	XG_ENST00000381174.5_Missense_Mutation_p.V148I|XG_ENST00000419513.2_Missense_Mutation_p.V163I	NM_001141920.1|NM_175569.2	NP_001135392.1|NP_780778.1	P55808	XG_HUMAN	Xg blood group	148						integral to membrane|plasma membrane				endometrium(1)|large_intestine(3)|lung(3)|ovary(1)	8		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				GTCTCCCATCGTATCCGTGGT	0.443													3	22					0	0	1	0	0	A	2729409	G	A	2729409	3	1	81	1	0	0	0	0	1	0	0	0	17487	1145	40	1	528	1	XG	23	2729409	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	320651	2729409	152541151	14921	18537	93	2									
XG	7499	broad.mit.edu	37	X	2729415	2729415	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:2729415G>A	ENST00000426774.1	+	9	674	c.451G>A	c.(451-453)Gtg>Atg	p.V151M	XG_ENST00000381174.5_Missense_Mutation_p.V150M|XG_ENST00000419513.2_Missense_Mutation_p.V165M	NM_001141920.1|NM_175569.2	NP_001135392.1|NP_780778.1	P55808	XG_HUMAN	Xg blood group	150						integral to membrane|plasma membrane				endometrium(1)|large_intestine(3)|lung(3)|ovary(1)	8		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				CATCGTATCCGTGGTGGTGGT	0.453													4	22					0	0	1	0	0	A	2729415	G	A	2729415	3	1	81	1	0	0	0	0	1	0	0	0	17487	1145	40	1	534	1	XG	23	2729415	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	6	2729415	152541145	14922	18538	93	2									
GYG2	8908	broad.mit.edu	37	X	2761277	2761277	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:2761277C>T	ENST00000381163.3	+	4	406	c.124C>T	c.(124-126)Cta>Tta	p.L42L	GYG2_ENST00000381161.1_Intron|GYG2_ENST00000338623.5_Silent_p.L42L|GYG2_ENST00000542787.1_Silent_p.L42L|GYG2_ENST00000398806.3_Silent_p.L11L	NM_001079855.1|NM_001184702.1|NM_003918.2	NP_001073324.1|NP_001171631.1|NP_003909.2	O15488	GLYG2_HUMAN	glycogenin 2	42					glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|soluble fraction	glycogenin glucosyltransferase activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)	13		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				TTTTGTCACACTAGCCACCAA	0.552													15	23					0	0	1	0	0	T	2761277	C	T	2761277	2	4	81	1	0	0	0	0	0	0	0	1	6947	564	20	2		2	GYG2	23	2761277	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	31862	2761277	152509283	14923	18539											
GYG2	8908	broad.mit.edu	37	X	2779761	2779761	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:2779761G>T	ENST00000381163.3	+	9	1411	c.1129G>T	c.(1129-1131)Gat>Tat	p.D377Y	GYG2_ENST00000381161.1_3'UTR|GYG2_ENST00000338623.5_Missense_Mutation_p.D377Y|GYG2_ENST00000542787.1_Missense_Mutation_p.D377Y|GYG2_ENST00000398806.3_Missense_Mutation_p.D346Y	NM_001079855.1|NM_001184702.1|NM_003918.2	NP_001073324.1|NP_001171631.1|NP_003909.2	O15488	GLYG2_HUMAN	glycogenin 2	377					glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|soluble fraction	glycogenin glucosyltransferase activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)	13		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CCGTTCAGAAGATGTAAGTAC	0.582													6	6					0.248553	0.249876	1	1	0	T	2779761	G	T	2779761	3	4	81	1	0	0	0	0	1	0	0	0	6947	942	33	4	1159	4	GYG2	23	2779761	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	18484	2779761	152490799	14924	18540											
ARSD	414	broad.mit.edu	37	X	2836236	2836236	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:2836236G>A	ENST00000381154.1	-	5	547	c.472C>T	c.(472-474)Cgc>Tgc	p.R158C	ARSD_ENST00000217890.6_5'UTR	NM_001669.3	NP_001660.2	P51689	ARSD_HUMAN	arylsulfatase D	158						lysosome	arylsulfatase activity|metal ion binding			large_intestine(3)|lung(3)	6		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				TGATCCCCGCGGGATGCACAA	0.552													3	15					0	0	1	0	0	A	2836236	G	A	2836236	3	1	81	1	0	0	0	0	1	0	0	0	988	1116	39	1	1486	1	ARSD	23	2836236	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	56475	2836236	152434324	14925	18541											
ARSE	415	broad.mit.edu	37	X	2867535	2867535	+	Missense_Mutation	SNP	C	C	T	rs150444751		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:2867535C>T	ENST00000545496.1	-	7	1030	c.739G>A	c.(739-741)Gtc>Atc	p.V247I	ARSE_ENST00000540563.1_Missense_Mutation_p.V177I|ARSE_ENST00000381134.3_Missense_Mutation_p.V222I	NM_001282628.1	NP_001269557.1	P51690	ARSE_HUMAN	arylsulfatase E (chondrodysplasia punctata 1)	222					skeletal system development	Golgi stack	arylsulfatase activity|metal ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				ATCCACGAGACGGGTATCAGG	0.547													17	18					0	0	1	0	0	T	2867535	C	T	2867535	3	4	81	1	0	0	0	0	1	0	0	0	989	536	19	1	1129	1	ARSE	23	2867535	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	31299	2867535	152403025	14926	18542											
ARSH	347527	broad.mit.edu	37	X	2924665	2924665	+	Silent	SNP	C	C	T	rs138378007	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:2924665C>T	ENST00000381130.2	+	1	12	c.12C>T	c.(10-12)aaC>aaT	p.N4N		NM_001011719.1	NP_001011719.1	Q5FYA8	ARSH_HUMAN	arylsulfatase family, member H	4						integral to membrane	arylsulfatase activity|metal ion binding			breast(3)|endometrium(8)|kidney(2)|large_intestine(6)|lung(13)|skin(1)|stomach(1)	34		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				TGACAAGAAACGCCAGACCCA	0.468													28	54					0	0	1	0	0	T	2924665	C	T	2924665	2	4	81	1	0	0	0	0	0	0	0	1	992	535	19	1		1	ARSH	23	2924665	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	57130	2924665	152345895	14927	18543											
ARSH	347527	broad.mit.edu	37	X	2951115	2951115	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:2951115G>T	ENST00000381130.2	+	9	1378	c.1378G>T	c.(1378-1380)Ggt>Tgt	p.G460C		NM_001011719.1	NP_001011719.1	Q5FYA8	ARSH_HUMAN	arylsulfatase family, member H	460						integral to membrane	arylsulfatase activity|metal ion binding			breast(3)|endometrium(8)|kidney(2)|large_intestine(6)|lung(13)|skin(1)|stomach(1)	34		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				TGAAGGAACAGGTGCCTGCTA	0.453													10	104					6.40141e-05	7.07494e-05	1	1	0	T	2951115	G	T	2951115	3	4	81	1	0	0	0	0	1	0	0	0	992	1000	35	4	1412	4	ARSH	23	2951115	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	26450	2951115	152319445	14928	18544											
MXRA5	25878	broad.mit.edu	37	X	3229611	3229611	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:3229611C>T	ENST00000217939.6	-	7	6787	c.6633G>A	c.(6631-6633)gtG>gtA	p.V2211V		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2211	Ig-like C2-type 6.					extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CTTTGTCCGTCACTGATTTCA	0.453													10	75					0	0	1	0	0	T	3229611	C	T	3229611	2	4	81	1	0	0	0	0	0	0	0	1	10051	813	29	2		2	MXRA5	23	3229611	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	278496	3229611	152040949	14929	18545											
MXRA5	25878	broad.mit.edu	37	X	3229644	3229644	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:3229644C>A	ENST00000217939.6	-	7	6754	c.6600G>T	c.(6598-6600)gtG>gtT	p.V2200V		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2200	Ig-like C2-type 6.					extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CATTGGCAAACACCTTGATTC	0.448													6	71					0.0215528	0.0221217	1	1	0	A	3229644	C	A	3229644	2	1	81	1	0	0	0	0	0	0	0	1	10051	465	17	5		5	MXRA5	23	3229644	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	33	3229644	152040916	14930	18546											
MXRA5	25878	broad.mit.edu	37	X	3235911	3235911	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:3235911G>A	ENST00000217939.6	-	6	5965	c.5811C>T	c.(5809-5811)gaC>gaT	p.D1937D		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	1937	Ig-like C2-type 3.					extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CCACCATCCTGTCCAGGCCGT	0.537													6	59					0	0	1	0	0	A	3235911	G	A	3235911	2	1	81	1	0	0	0	0	0	0	0	1	10051	1368	48	2		2	MXRA5	23	3235911	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	6267	3235911	152034649	14931	18547											
MXRA5	25878	broad.mit.edu	37	X	3238348	3238348	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:3238348G>A	ENST00000217939.6	-	5	5532	c.5378C>T	c.(5377-5379)cCg>cTg	p.P1793L		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	1793						extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CGTGGTCTGCGGAGTGTGCAA	0.483													16	16					0	0	1	0	0	A	3238348	G	A	3238348	3	1	81	1	0	0	0	0	1	0	0	0	10051	1116	39	1	3120	1	MXRA5	23	3238348	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2437	3238348	152032212	14932	18548											
MXRA5	25878	broad.mit.edu	37	X	3241892	3241892	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:3241892T>C	ENST00000217939.6	-	5	1988	c.1834A>G	c.(1834-1836)Att>Gtt	p.I612V		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	612	Ig-like C2-type 2.					extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				TTTGGAAGAATCCAGCTAAGG	0.458													9	22					0	0	1	0	0	C	3241892	T	C	3241892	3	2	81	1	0	0	0	0	1	0	0	0	10051	1435	50	3	6664	3	MXRA5	23	3241892	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	3544	3241892	152028668	14933	18549											
MXRA5	25878	broad.mit.edu	37	X	3248419	3248419	+	Missense_Mutation	SNP	C	C	T	rs142550750		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:3248419C>T	ENST00000217939.6	-	4	503	c.349G>A	c.(349-351)Gtg>Atg	p.V117M		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	117						extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CCTGTGATCACTCTCAGCTTG	0.433													7	11					0	0	1	0	0	T	3248419	C	T	3248419	3	4	81	1	0	0	0	0	1	0	0	0	10051	565	20	2	8153	2	MXRA5	23	3248419	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	6527	3248419	152022141	14934	18550											
NLGN4X	57502	broad.mit.edu	37	X	5821135	5821135	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:5821135C>T	ENST00000381095.3	-	5	2211	c.1584G>A	c.(1582-1584)acG>acA	p.T528T	NLGN4X_ENST00000381092.1_Silent_p.T528T|NLGN4X_ENST00000275857.6_Silent_p.T528T|NLGN4X_ENST00000381093.2_Silent_p.T548T|NLGN4X_ENST00000538097.1_Silent_p.T528T	NM_001282145.1|NM_001282146.1|NM_181332.1	NP_001269074.1|NP_001269075.1|NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	528					brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity			breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						TGGCGAAGTTCGTCCAGTAGG	0.502													24	44					0	0	1	0	0	T	5821135	C	T	5821135	2	4	81	1	0	0	0	0	0	0	0	1	10511	871	31	1		1	NLGN4X	23	5821135	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2572716	5821135	149449425	14935	18551											
NLGN4X	57502	broad.mit.edu	37	X	5821215	5821215	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:5821215T>C	ENST00000381095.3	-	5	2131	c.1504A>G	c.(1504-1506)Atc>Gtc	p.I502V	NLGN4X_ENST00000381092.1_Missense_Mutation_p.I502V|NLGN4X_ENST00000275857.6_Missense_Mutation_p.I502V|NLGN4X_ENST00000381093.2_Missense_Mutation_p.I522V|NLGN4X_ENST00000538097.1_Missense_Mutation_p.I502V	NM_001282145.1|NM_001282146.1|NM_181332.1	NP_001269074.1|NP_001269075.1|NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	502					brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity			breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						GTGGGACCGATCATGGGGATG	0.532													26	36					0	0	1	0	0	C	5821215	T	C	5821215	3	2	81	1	0	0	0	0	1	0	0	0	10511	1435	50	3	954	3	NLGN4X	23	5821215	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	80	5821215	149449345	14936	18552											
VCX	26609	broad.mit.edu	37	X	7811790	7811790	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:7811790C>T	ENST00000381059.3	+	3	573	c.354C>T	c.(352-354)agC>agT	p.S118S	VCX_ENST00000341408.4_Silent_p.S118S	NM_013452.2	NP_038480.2	Q9H320	VCX1_HUMAN	variable charge, X-linked	118	10 X 10 AA tandem repeats of L-S-Q-E-S- [EQ]-V-E-E-P.|Glu-rich.				chromatin organization|ribosome assembly|spermatogenesis	nucleolus	chromatin binding	p.S118S(1)		NS(1)|endometrium(4)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	10		Colorectal(8;0.0136)|Medulloblastoma(8;0.184)				GTCAGGAGAGCGAGGTGGAAG	0.637													43	109					0	0	1	0	0	T	7811790	C	T	7811790	2	4	81	1	0	0	0	0	0	0	0	1	17202	767	27	1		1	VCX	23	7811790	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1990575	7811790	147458770	14937	18553											
PNPLA4	8228	broad.mit.edu	37	X	7868854	7868854	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:7868854G>T	ENST00000381042.4	-	7	805	c.635C>A	c.(634-636)tCc>tAc	p.S212Y	PNPLA4_ENST00000444736.1_Missense_Mutation_p.S212Y|PNPLA4_ENST00000537427.1_Missense_Mutation_p.S125Y	NM_004650.2	NP_004641.1	P41247	PLPL4_HUMAN	patatin-like phospholipase domain containing 4	212					lipid catabolic process		triglyceride lipase activity			kidney(1)|large_intestine(3)|lung(2)|prostate(1)	7		Colorectal(8;0.0329)|Medulloblastoma(8;0.232)				GTTTGCCAGGGACAACTAGAA	0.358													16	27					6.49762e-13	8.15126e-13	1	1	0	T	7868854	G	T	7868854	3	4	81	1	0	0	0	0	1	0	0	0	12215	1174	41	5	130	5	PNPLA4	23	7868854	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	57064	7868854	147401706	14938	18554											
PNPLA4	8228	broad.mit.edu	37	X	7889875	7889875	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:7889875G>A	ENST00000381042.4	-	4	460	c.290C>T	c.(289-291)tCg>tTg	p.S97L	PNPLA4_ENST00000444736.1_Missense_Mutation_p.S97L|PNPLA4_ENST00000537427.1_Missense_Mutation_p.S10L	NM_004650.2	NP_004641.1	P41247	PLPL4_HUMAN	patatin-like phospholipase domain containing 4	97	Patatin.				lipid catabolic process		triglyceride lipase activity			kidney(1)|large_intestine(3)|lung(2)|prostate(1)	7		Colorectal(8;0.0329)|Medulloblastoma(8;0.232)				AGGAAGAATCGACTCCATCCC	0.438													13	33					0	0	1	0	0	A	7889875	G	A	7889875	3	1	81	1	0	0	0	0	1	0	0	0	12215	1059	37	1	487	1	PNPLA4	23	7889875	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	21021	7889875	147380685	14939	18555											
VCX3B	425054	broad.mit.edu	37	X	8433557	8433557	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:8433557C>A	ENST00000381032.1	+	2	373	c.66C>A	c.(64-66)tcC>tcA	p.S22S	VCX3B_ENST00000440654.2_Silent_p.S22S|VCX3B_ENST00000381029.4_Silent_p.S22S|VCX3B_ENST00000444481.1_Silent_p.S22S|VCX3B_ENST00000453306.1_Silent_p.S22S	NM_001001888.3	NP_001001888.3	Q9H321	VCX3B_HUMAN	variable charge, X-linked 3B	22						nucleolus				NS(1)|large_intestine(1)|lung(2)|prostate(1)|skin(3)|urinary_tract(3)	11						AGAGGAAGTCCTCCTCTCAGC	0.607													14	118					9.16793e-09	1.09544e-08	1	1	0	A	8433557	C	A	8433557	2	1	81	1	0	0	0	0	0	0	0	1	17205	668	24	4		4	VCX3B	23	8433557	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	543682	8433557	146837003	14940	18556											
GPR143	4935	broad.mit.edu	37	X	9709462	9709463	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:9709462_9709463insA	ENST00000467482.1	-	7	946_947	c.800_801insT	c.(799-801)ttafs	p.L267fs	GPR143_ENST00000380929.2_Frame_Shift_Ins_p.L287fs			P51810	GP143_HUMAN	G protein-coupled receptor 143	267					calcium-mediated signaling using intracellular calcium source|eye pigment biosynthetic process|melanosome organization|melanosome transport|phosphatidylinositol-mediated signaling|regulation of calcium-mediated signaling|visual perception	apical plasma membrane|Golgi apparatus|integral to membrane|lysosomal membrane|melanosome membrane|membrane fraction	dopamine binding|L-DOPA receptor activity|protein binding|tyrosine binding			endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15		Hepatocellular(5;0.000888)				CAAGATAGAATAAAAGGCTTTC	0.371													10	23	---	---	---	---						A	9709463	-	A	9709462	7	5	81	1	0	1	1	0	0	0	0	0	6691	1403	49	0	425	0	GPR143	23	9709462	Frame_Shift_Ins	INS	-	TCGA-DU-6392-01A-11D-1705-08	1275905	9709462	145561098	14941	18557											
GPR143	4935	broad.mit.edu	37	X	9711662	9711662	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:9711662C>A	ENST00000467482.1	-	6	856	c.710G>T	c.(709-711)aGg>aTg	p.R237M	GPR143_ENST00000380929.2_Missense_Mutation_p.R257M			P51810	GP143_HUMAN	G protein-coupled receptor 143	237	Necessary for its G protein-activation ability and normal distribution of melanosomes.				calcium-mediated signaling using intracellular calcium source|eye pigment biosynthetic process|melanosome organization|melanosome transport|phosphatidylinositol-mediated signaling|regulation of calcium-mediated signaling|visual perception	apical plasma membrane|Golgi apparatus|integral to membrane|lysosomal membrane|melanosome membrane|membrane fraction	dopamine binding|L-DOPA receptor activity|protein binding|tyrosine binding			endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15		Hepatocellular(5;0.000888)				GGCTCCCATCCTCCTCTCGTT	0.378													14	109					6.31663e-08	7.44777e-08	1	1	0	A	9711662	C	A	9711662	3	1	81	1	0	0	0	0	1	0	0	0	6691	681	24	4	520	4	GPR143	23	9711662	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2200	9711662	145558898	14942	18558											
GPR143	4935	broad.mit.edu	37	X	9716629	9716629	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:9716629T>G	ENST00000467482.1	-	4	679	c.533A>C	c.(532-534)tAc>tCc	p.Y178S	GPR143_ENST00000380929.2_Missense_Mutation_p.Y198S			P51810	GP143_HUMAN	G protein-coupled receptor 143	178					calcium-mediated signaling using intracellular calcium source|eye pigment biosynthetic process|melanosome organization|melanosome transport|phosphatidylinositol-mediated signaling|regulation of calcium-mediated signaling|visual perception	apical plasma membrane|Golgi apparatus|integral to membrane|lysosomal membrane|melanosome membrane|membrane fraction	dopamine binding|L-DOPA receptor activity|protein binding|tyrosine binding			endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15		Hepatocellular(5;0.000888)				CACGGAAGGGTAGTAGAGCAT	0.597													3	37					0	0	1	0	0	G	9716629	T	G	9716629	3	3	81	1	0	0	0	0	1	0	0	0	6691	1638	57	5	705	5	GPR143	23	9716629	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	4967	9716629	145553931	14943	18559											
GPR143	4935	broad.mit.edu	37	X	9727379	9727379	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:9727379C>T	ENST00000467482.1	-	3	594	c.448G>A	c.(448-450)Gga>Aga	p.G150R	GPR143_ENST00000380929.2_Missense_Mutation_p.G170R			P51810	GP143_HUMAN	G protein-coupled receptor 143	150					calcium-mediated signaling using intracellular calcium source|eye pigment biosynthetic process|melanosome organization|melanosome transport|phosphatidylinositol-mediated signaling|regulation of calcium-mediated signaling|visual perception	apical plasma membrane|Golgi apparatus|integral to membrane|lysosomal membrane|melanosome membrane|membrane fraction	dopamine binding|L-DOPA receptor activity|protein binding|tyrosine binding			endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15		Hepatocellular(5;0.000888)				TACCTCAGTCCTGCCGATCTC	0.468													4	1					0	0	1	0	0	T	9727379	C	T	9727379	3	4	81	1	0	0	0	0	1	0	0	0	6691	690	24	2	794	2	GPR143	23	9727379	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	10750	9727379	145543181	14944	18560											
SHROOM2	357	broad.mit.edu	37	X	9864183	9864183	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:9864183G>A	ENST00000380913.3	+	4	2325	c.2235G>A	c.(2233-2235)ccG>ccA	p.P745P		NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN	shroom family member 2	745	ASD1.				apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization	apical plasma membrane|cell-cell adherens junction|microtubule|tight junction	actin filament binding|beta-catenin binding|ligand-gated sodium channel activity			breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57		Hepatocellular(5;0.000888)				GGCCCCACCCGCCCCGCATCG	0.627													5	7					0	0	1	0	0	A	9864183	G	A	9864183	2	1	81	1	0	0	0	0	0	0	0	1	14349	1074	38	1		1	SHROOM2	23	9864183	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	136804	9864183	145406377	14945	18561											
SHROOM2	357	broad.mit.edu	37	X	9900466	9900466	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:9900466C>T	ENST00000380913.3	+	6	3233	c.3143C>T	c.(3142-3144)tCg>tTg	p.S1048L	SHROOM2_ENST00000418909.2_5'UTR|SHROOM2_ENST00000493668.1_3'UTR	NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN	shroom family member 2	1048					apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization	apical plasma membrane|cell-cell adherens junction|microtubule|tight junction	actin filament binding|beta-catenin binding|ligand-gated sodium channel activity			breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57		Hepatocellular(5;0.000888)				GGACAAGACTCGTGGCCAGTG	0.647													3	14					0	0	1	0	0	T	9900466	C	T	9900466	3	4	81	1	0	0	0	0	1	0	0	0	14349	893	31	1	3165	1	SHROOM2	23	9900466	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	36283	9900466	145370094	14946	18562											
SHROOM2	357	broad.mit.edu	37	X	9900704	9900704	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:9900704G>A	ENST00000380913.3	+	6	3471	c.3381G>A	c.(3379-3381)ccG>ccA	p.P1127P	SHROOM2_ENST00000418909.2_5'UTR|SHROOM2_ENST00000493668.1_3'UTR	NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN	shroom family member 2	1127					apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization	apical plasma membrane|cell-cell adherens junction|microtubule|tight junction	actin filament binding|beta-catenin binding|ligand-gated sodium channel activity			breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57		Hepatocellular(5;0.000888)				AGGACACCCCGAAGGCCACTG	0.657													19	29					0	0	1	0	0	A	9900704	G	A	9900704	2	1	81	1	0	0	0	0	0	0	0	1	14349	1045	37	1		1	SHROOM2	23	9900704	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	238	9900704	145369856	14947	18563											
SHROOM2	357	broad.mit.edu	37	X	9905180	9905180	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:9905180G>C	ENST00000380913.3	+	7	3684	c.3594G>C	c.(3592-3594)gaG>gaC	p.E1198D	SHROOM2_ENST00000418909.2_Missense_Mutation_p.E33D|SHROOM2_ENST00000493668.1_3'UTR	NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN	shroom family member 2	1198					apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization	apical plasma membrane|cell-cell adherens junction|microtubule|tight junction	actin filament binding|beta-catenin binding|ligand-gated sodium channel activity			breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57		Hepatocellular(5;0.000888)				CCAGAATTGAGCGGGTGATGG	0.577													3	3					0	0	1	0	0	C	9905180	G	C	9905180	3	2	81	1	0	0	0	0	1	0	0	0	14349	962	34	4	3620	4	SHROOM2	23	9905180	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	4476	9905180	145365380	14948	18564											
SHROOM2	357	broad.mit.edu	37	X	9912767	9912767	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:9912767C>T	ENST00000380913.3	+	9	4488	c.4398C>T	c.(4396-4398)acC>acT	p.T1466T	SHROOM2_ENST00000418909.2_Silent_p.T301T	NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN	shroom family member 2	1466	ASD2.				apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization	apical plasma membrane|cell-cell adherens junction|microtubule|tight junction	actin filament binding|beta-catenin binding|ligand-gated sodium channel activity			breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57		Hepatocellular(5;0.000888)				AGGCCAACACCGTGCTGGGGG	0.632													3	29					0	0	1	0	0	T	9912767	C	T	9912767	2	4	81	1	0	0	0	0	0	0	0	1	14349	639	23	1		1	SHROOM2	23	9912767	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	7587	9912767	145357793	14949	18565											
WWC3	55841	broad.mit.edu	37	X	10096201	10096201	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:10096201G>T	ENST00000380861.4	+	16	2671	c.2280G>T	c.(2278-2280)acG>acT	p.T760T	WWC3_ENST00000454666.1_Splice_Site_p.T760T	NM_015691.3	NP_056506.2	Q9ULE0	WWC3_HUMAN	WWC family member 3	760										NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						CCGGCAAGACGGTACTTGGCC	0.567													15	30					3.52763e-06	4.02143e-06	1	1	0	T	10096201	G	T	10096201	5	4	81	1	0	0	0	0	0	0	1	0	17473	1130	39	5	2338	5	WWC3	23	10096201	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	183434	10096201	145174359	14950	18566											
WWC3	55841	broad.mit.edu	37	X	10098024	10098024	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:10098024G>A	ENST00000380861.4	+	18	2852	c.2461G>A	c.(2461-2463)Ggc>Agc	p.G821S	WWC3_ENST00000454666.1_Missense_Mutation_p.G821S	NM_015691.3	NP_056506.2	Q9ULE0	WWC3_HUMAN	WWC family member 3	821										NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						GGTGGATAGCGGCTGTAGCAA	0.577													36	53					0	0	1	0	0	A	10098024	G	A	10098024	3	1	81	1	0	0	0	0	1	0	0	0	17473	1116	39	1	2527	1	WWC3	23	10098024	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1823	10098024	145172536	14951	18567											
CLCN4	1183	broad.mit.edu	37	X	10176405	10176405	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:10176405C>A	ENST00000380833.4	+	9	1555	c.1164C>A	c.(1162-1164)ccC>ccA	p.P388P	CLCN4_ENST00000421085.2_Silent_p.P294P|CLCN4_ENST00000380829.1_Silent_p.P357P	NM_001256944.1|NM_001830.3	NP_001243873.1|NP_001821.2	P51793	CLCN4_HUMAN	chloride channel, voltage-sensitive 4	388						early endosome membrane|integral to membrane|late endosome membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						ACCCCAATCCCTACACACGCC	0.567													30	286					7.26314e-15	9.23631e-15	1	1	0	A	10176405	C	A	10176405	2	1	81	1	0	0	0	0	0	0	0	1	3488	668	24	4		4	CLCN4	23	10176405	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	78381	10176405	145094155	14952	18568											
MID1	4281	broad.mit.edu	37	X	10535405	10535405	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:10535405A>G	ENST00000317552.4	-	2	583	c.183T>C	c.(181-183)caT>caC	p.H61H	MID1_ENST00000380780.1_Silent_p.H61H|MID1_ENST00000380785.1_Silent_p.H61H|MID1_ENST00000380782.2_Silent_p.H61H|MID1_ENST00000453318.2_Silent_p.H61H|MID1_ENST00000380779.1_Silent_p.H61H|MID1_ENST00000380787.1_Silent_p.H61H	NM_000381.3|NM_033289.1	NP_000372.1|NP_150631.1	O15344	TRI18_HUMAN	midline 1 (Opitz/BBB syndrome)	61					microtubule cytoskeleton organization|pattern specification process|positive regulation of stress-activated MAPK cascade	cytoplasm|microtubule|microtubule associated complex|spindle	ligase activity|ubiquitin protein ligase binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	26						GGGTGATGACATGCCGGCAGG	0.597													7	90					0	0	1	0	0	G	10535405	A	G	10535405	2	3	81	1	0	0	0	0	0	0	0	1	9624	214	8	3		3	MID1	23	10535405	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	359000	10535405	144735155	14953	18569											
HCCS	3052	broad.mit.edu	37	X	11135463	11135463	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:11135463C>T	ENST00000321143.4	+	4	531	c.329C>T	c.(328-330)cCg>cTg	p.P110L	HCCS_ENST00000380763.3_Missense_Mutation_p.P110L|HCCS_ENST00000380762.4_Missense_Mutation_p.P110L	NM_001122608.2|NM_001171991.2|NM_005333.4	NP_001116080.1|NP_001165462.1|NP_005324.3	P53701	CCHL_HUMAN	holocytochrome c synthase	110					organ morphogenesis|oxidation-reduction process	mitochondrial inner membrane	holocytochrome-c synthase activity|metal ion binding			kidney(1)|large_intestine(3)|lung(3)	7						TCATCCATTCCGAGAGCAGAT	0.388													65	84					0	0	1	0	0	T	11135463	C	T	11135463	3	4	81	1	0	0	0	0	1	0	0	0	7031	652	23	1	339	1	HCCS	23	11135463	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	600058	11135463	144135097	14954	18570											
AMELX	265	broad.mit.edu	37	X	11316260	11316260	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:11316260C>T	ENST00000380712.3	+	4	208	c.140C>T	c.(139-141)gCa>gTa	p.A47V	ARHGAP6_ENST00000337414.4_Intron|ARHGAP6_ENST00000380736.1_Intron|AMELX_ENST00000348912.4_Intron|ARHGAP6_ENST00000380732.3_Intron|AMELX_ENST00000380714.3_Intron|ARHGAP6_ENST00000413512.3_Intron|ARHGAP6_ENST00000380718.1_Intron	NM_182680.1	NP_872621.1	Q99217	AMELX_HUMAN	amelogenin, X-linked	34					cell adhesion|cell proliferation|chondrocyte differentiation|enamel mineralization|epithelial to mesenchymal transition|ion homeostasis|odontogenesis of dentine-containing tooth|osteoblast differentiation|positive regulation of collagen biosynthetic process|positive regulation of tooth mineralization|signal transduction	proteinaceous extracellular matrix	cell surface binding|growth factor activity|hydroxyapatite binding|identical protein binding|structural constituent of tooth enamel			endometrium(3)|kidney(2)|large_intestine(1)|lung(9)	15						GACAGGACTGCATTAGTGAGT	0.358													30	323					0	0	1	0	0	T	11316260	C	T	11316260	3	4	81	1	0	0	0	0	1	0	0	0	565	710	25	2	150	2	AMELX	23	11316260	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	180797	11316260	143954300	14955	18571											
MSL3	10943	broad.mit.edu	37	X	11783771	11783771	+	Missense_Mutation	SNP	G	G	T	rs147804390	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:11783771G>T	ENST00000337339.2	+	9	1121	c.1094G>T	c.(1093-1095)aGc>aTc	p.S365I	MSL3_ENST00000380693.3_Missense_Mutation_p.S199I|MSL3_ENST00000312196.4_Missense_Mutation_p.S365I|MSL3_ENST00000398527.2_Missense_Mutation_p.S353I|MSL3_ENST00000361672.2_Missense_Mutation_p.S216I	NM_078628.1	NP_523352.1	Q8N5Y2	MS3L1_HUMAN	male-specific lethal 3 homolog (Drosophila)	365					histone H4-K16 acetylation|multicellular organismal development|transcription from RNA polymerase II promoter	MSL complex	DNA binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|urinary_tract(1)	19						TCTGAGAGCAGCGCTTCACCT	0.612													47	67					5.7616e-29	7.67085e-29	1	1	0	T	11783771	G	T	11783771	3	4	81	1	0	0	0	0	1	0	0	0	9928	971	34	4	1128	4	MSL3	23	11783771	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	467511	11783771	143486789	14956	18572											
MSL3	10943	broad.mit.edu	37	X	11783816	11783816	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:11783816G>T	ENST00000337339.2	+	9	1166	c.1139G>T	c.(1138-1140)aGc>aTc	p.S380I	MSL3_ENST00000380693.3_Missense_Mutation_p.S214I|MSL3_ENST00000312196.4_Missense_Mutation_p.S380I|MSL3_ENST00000398527.2_Missense_Mutation_p.S368I|MSL3_ENST00000467141.1_3'UTR|MSL3_ENST00000361672.2_Missense_Mutation_p.S231I	NM_078628.1	NP_523352.1	Q8N5Y2	MS3L1_HUMAN	male-specific lethal 3 homolog (Drosophila)	380					histone H4-K16 acetylation|multicellular organismal development|transcription from RNA polymerase II promoter	MSL complex	DNA binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|urinary_tract(1)	19						ACATCCGCCAGCATGCCCAAG	0.607													34	66					2.42023e-17	3.11933e-17	1	1	0	T	11783816	G	T	11783816	3	4	81	1	0	0	0	0	1	0	0	0	9928	971	34	4	1173	4	MSL3	23	11783816	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	45	11783816	143486744	14957	18573											
FRMPD4	9758	broad.mit.edu	37	X	12627867	12627867	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:12627867C>T	ENST00000380682.1	+	3	692	c.186C>T	c.(184-186)gaC>gaT	p.D62D		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	62	WW.				positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						TCCCTTTTGACGACCCTCGGT	0.512													30	46					0	0	1	0	0	T	12627867	C	T	12627867	2	4	81	1	0	0	0	0	0	0	0	1	6094	535	19	1		1	FRMPD4	23	12627867	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	844051	12627867	142642693	14958	18574											
FRMPD4	9758	broad.mit.edu	37	X	12701657	12701657	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:12701657C>A	ENST00000380682.1	+	6	1030	c.524C>A	c.(523-525)cCt>cAt	p.P175H		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	175					positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						AAGTCCAATCCTGTCAAAGTA	0.413													26	32					1.32181e-22	1.7371e-22	1	1	0	A	12701657	C	A	12701657	3	1	81	1	0	0	0	0	1	0	0	0	6094	681	24	4	546	4	FRMPD4	23	12701657	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	73790	12701657	142568903	14959	18575											
FRMPD4	9758	broad.mit.edu	37	X	12722503	12722503	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:12722503C>A	ENST00000380682.1	+	11	1602	c.1096C>A	c.(1096-1098)Ctt>Att	p.L366I		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	366	FERM.				positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						AGAGACTTTTCTTCCCTCTGC	0.373													27	72					1.77063e-15	2.25974e-15	1	1	0	A	12722503	C	A	12722503	3	1	81	1	0	0	0	0	1	0	0	0	6094	913	32	4	1138	4	FRMPD4	23	12722503	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	20846	12722503	142548057	14960	18576											
FRMPD4	9758	broad.mit.edu	37	X	12734613	12734613	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:12734613C>A	ENST00000380682.1	+	15	2541	c.2035C>A	c.(2035-2037)Cct>Act	p.P679T		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	679					positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						AGATGAGGGTCCTGAAATGCT	0.493													7	249					0.0293803	0.0300537	1	1	0	A	12734613	C	A	12734613	3	1	81	1	0	0	0	0	1	0	0	0	6094	855	30	5	2093	5	FRMPD4	23	12734613	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	12110	12734613	142535947	14961	18577											
FRMPD4	9758	broad.mit.edu	37	X	12734712	12734712	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:12734712G>A	ENST00000380682.1	+	15	2640	c.2134G>A	c.(2134-2136)Gaa>Aaa	p.E712K		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	712					positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						CCAGTTTGTGGAAAATTCTGT	0.498													91	163					0	0	1	0	0	A	12734712	G	A	12734712	3	1	81	1	0	0	0	0	1	0	0	0	6094	1175	41	2	2192	2	FRMPD4	23	12734712	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	99	12734712	142535848	14962	18578											
FRMPD4	9758	broad.mit.edu	37	X	12734904	12734904	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:12734904T>C	ENST00000380682.1	+	15	2832	c.2326T>C	c.(2326-2328)Tca>Cca	p.S776P		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	776					positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						CCTGTCTGGGTCAAGCGATGA	0.572													17	127					0	0	1	0	0	C	12734904	T	C	12734904	3	2	81	1	0	0	0	0	1	0	0	0	6094	1667	58	3	2384	3	FRMPD4	23	12734904	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	192	12734904	142535656	14963	18579											
FRMPD4	9758	broad.mit.edu	37	X	12735195	12735195	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:12735195C>A	ENST00000380682.1	+	15	3123	c.2617C>A	c.(2617-2619)Ctg>Atg	p.L873M		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	873					positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						CGTCTCCACGCTGGGAGCTCT	0.502													8	92					0.000274275	0.000297259	1	1	0	A	12735195	C	A	12735195	3	1	81	1	0	0	0	0	1	0	0	0	6094	796	28	4	2675	4	FRMPD4	23	12735195	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	291	12735195	142535365	14964	18580											
FRMPD4	9758	broad.mit.edu	37	X	12736536	12736536	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:12736536G>A	ENST00000380682.1	+	16	4097	c.3591G>A	c.(3589-3591)aaG>aaA	p.K1197K		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	1197					positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						ACTTGGCCAAGCGGATGTCAT	0.577													16	160					0	0	1	0	0	A	12736536	G	A	12736536	2	1	81	1	0	0	0	0	0	0	0	1	6094	962	34	2		2	FRMPD4	23	12736536	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1341	12736536	142534024	14965	18581											
PRPS2	5634	broad.mit.edu	37	X	12828159	12828159	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:12828159G>A	ENST00000380668.5	+	4	552	c.424G>A	c.(424-426)Gtg>Atg	p.V142M	PRPS2_ENST00000398491.2_Missense_Mutation_p.V145M|PRPS2_ENST00000489404.1_Missense_Mutation_p.V142M	NM_001039091.2|NM_002765.4	NP_001034180.1|NP_002756.1	P11908	PRPS2_HUMAN	phosphoribosyl pyrophosphate synthetase 2	142					nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process		ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|urinary_tract(1)	16						TGATATTCCTGTGGATAATTT	0.428													13	28					0	0	1	0	0	A	12828159	G	A	12828159	3	1	81	1	0	0	0	0	1	0	0	0	12632	1377	48	2	447	2	PRPS2	23	12828159	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	91623	12828159	142442401	14966	18582											
PRPS2	5634	broad.mit.edu	37	X	12828249	12828249	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:12828249G>A	ENST00000380668.5	+	4	642	c.514G>A	c.(514-516)Gca>Aca	p.A172T	PRPS2_ENST00000398491.2_Missense_Mutation_p.A175T|PRPS2_ENST00000489404.1_Missense_Mutation_p.A172T	NM_001039091.2|NM_002765.4	NP_001034180.1|NP_002756.1	P11908	PRPS2_HUMAN	phosphoribosyl pyrophosphate synthetase 2	172					nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process		ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|urinary_tract(1)	16						TTCACCTGACGCAGGGGGAGC	0.463													34	59					0	0	1	0	0	A	12828249	G	A	12828249	3	1	81	1	0	0	0	0	1	0	0	0	12632	1087	38	1	537	1	PRPS2	23	12828249	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	90	12828249	142442311	14967	18583											
PRPS2	5634	broad.mit.edu	37	X	12837722	12837722	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:12837722C>T	ENST00000380668.5	+	5	755	c.627C>T	c.(625-627)ggC>ggT	p.G209G	PRPS2_ENST00000398491.2_Silent_p.G212G	NM_001039091.2|NM_002765.4	NP_001034180.1|NP_002756.1	P11908	PRPS2_HUMAN	phosphoribosyl pyrophosphate synthetase 2	209					nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process		ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity	p.G209G(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|urinary_tract(1)	16						TCCTGGTGGGCGACGTGAAGG	0.557													86	148					0	0	1	0	0	T	12837722	C	T	12837722	2	4	81	1	0	0	0	0	0	0	0	1	12632	755	27	1		1	PRPS2	23	12837722	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	9473	12837722	142432838	14968	18584											
TLR7	51284	broad.mit.edu	37	X	12904193	12904193	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:12904193G>A	ENST00000380659.3	+	3	705	c.566G>A	c.(565-567)tGt>tAt	p.C189Y		NM_016562.3	NP_057646.1	Q9NYK1	TLR7_HUMAN	toll-like receptor 7	189					cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus	early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane	double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity			NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44					Imiquimod(DB00724)	CGAAATCCTTGTTATGTTTCA	0.383													7	58					0	0	1	0	0	A	12904193	G	A	12904193	3	1	81	1	0	0	0	0	1	0	0	0	16016	1377	48	2	572	2	TLR7	23	12904193	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	66471	12904193	142366367	14969	18585											
TLR8	51311	broad.mit.edu	37	X	12937546	12937546	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:12937546G>A	ENST00000218032.6	+	2	474	c.387G>A	c.(385-387)gaG>gaA	p.E129E	TLR8_ENST00000311912.5_Silent_p.E147E	NM_138636.4	NP_619542.1	Q9NR97	TLR8_HUMAN	toll-like receptor 8	129					cellular response to mechanical stimulus|defense response to virus|I-kappaB kinase/NF-kappaB cascade|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process	endosome membrane	DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity			breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						ACCTAAGGGAGTTACTGCTTG	0.408													63	96					0	0	1	0	0	A	12937546	G	A	12937546	2	1	81	1	0	0	0	0	0	0	0	1	16017	1020	36	2		2	TLR8	23	12937546	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	33353	12937546	142333014	14970	18586											
TCEANC	170082	broad.mit.edu	37	X	13680768	13680768	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:13680768T>C	ENST00000380600.1	+	2	228	c.141T>C	c.(139-141)gaT>gaC	p.D47D	TCEANC_ENST00000545566.1_Silent_p.D47D|TCEANC_ENST00000544987.1_Silent_p.D47D|TCEANC_ENST00000314720.4_Silent_p.D77D|TCEANC_ENST00000490617.1_3'UTR			Q8N8B7	TEANC_HUMAN	transcription elongation factor A (SII) N-terminal and central domain containing	47	TFIIS N-terminal.				regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding			central_nervous_system(1)|large_intestine(5)|lung(2)|pancreas(1)	9						AGGAGACAGATGTGGTCAGAG	0.428													8	78					0	0	1	0	0	C	13680768	T	C	13680768	2	2	81	1	0	0	0	0	0	0	0	1	15738	1461	51	3		3	TCEANC	23	13680768	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	743222	13680768	141589792	14971	18587											
TCEANC	170082	broad.mit.edu	37	X	13681173	13681173	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:13681173C>T	ENST00000380600.1	+	2	633	c.546C>T	c.(544-546)taC>taT	p.Y182Y	TCEANC_ENST00000545566.1_Silent_p.Y182Y|TCEANC_ENST00000544987.1_Silent_p.Y182Y|TCEANC_ENST00000314720.4_Silent_p.Y212Y|TCEANC_ENST00000490617.1_3'UTR			Q8N8B7	TEANC_HUMAN	transcription elongation factor A (SII) N-terminal and central domain containing	182	TFIIS central.				regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding			central_nervous_system(1)|large_intestine(5)|lung(2)|pancreas(1)	9						AGCTTCTTTACGCAGCTTTAA	0.423													16	131					0	0	1	0	0	T	13681173	C	T	13681173	2	4	81	1	0	0	0	0	0	0	0	1	15738	547	19	1		1	TCEANC	23	13681173	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	405	13681173	141589387	14972	18588											
RAB9A	9367	broad.mit.edu	37	X	13727016	13727016	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:13727016G>A	ENST00000464506.1	+	3	430	c.151G>A	c.(151-153)Gtg>Atg	p.V51M	RAB9A_ENST00000243325.5_3'UTR	NM_001195328.1|NM_004251.4	NP_001182257.1|NP_004242.1	P51151	RAB9A_HUMAN	RAB9A, member RAS oncogene family	51					protein transport|small GTPase mediated signal transduction	endoplasmic reticulum membrane|Golgi membrane|late endosome|lysosome|plasma membrane	GDP binding|GTP binding|GTPase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	7						AGATTTGGAAGTGGATGGACA	0.418													83	143					0	0	1	0	0	A	13727016	G	A	13727016	3	1	81	1	0	0	0	0	1	0	0	0	13010	1029	36	2	153	2	RAB9A	23	13727016	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	45843	13727016	141543544	14973	18589											
OFD1	8481	broad.mit.edu	37	X	13775826	13775826	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:13775826C>T	ENST00000380567.1	+	15	1911	c.1039C>T	c.(1039-1041)Cgg>Tgg	p.R347W	OFD1_ENST00000490265.1_3'UTR|OFD1_ENST00000380550.3_Missense_Mutation_p.R447W|OFD1_ENST00000340096.6_Missense_Mutation_p.R487W			O75665	OFD1_HUMAN	oral-facial-digital syndrome 1	487					cilium movement involved in determination of left/right asymmetry|G2/M transition of mitotic cell cycle	centriole|cilium|cytosol|microtubule basal body|nuclear membrane	alpha-tubulin binding|gamma-tubulin binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	25						GAAAGAACTACGGAAAGCCGA	0.428													25	38					0	0	1	0	0	T	13775826	C	T	13775826	3	4	81	1	0	0	0	0	1	0	0	0	10886	527	19	1	1513	1	OFD1	23	13775826	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	48810	13775826	141494734	14974	18590											
FANCB	2187	broad.mit.edu	37	X	14863291	14863291	+	Silent	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:14863291T>G	ENST00000398334.1	-	8	1881	c.1614A>C	c.(1612-1614)ccA>ccC	p.P538P	FANCB_ENST00000324138.3_Silent_p.P538P	NM_001018113.1	NP_001018123.1	Q8NB91	FANCB_HUMAN	Fanconi anemia, complementation group B	538					DNA repair	nucleoplasm				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24	Hepatocellular(33;0.183)					GCATCAAGTATGGTGCTGGGA	0.408								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				58	103					0	0	1	0	0	G	14863291	T	G	14863291	2	3	81	1	0	0	0	0	0	0	0	1	5696	1451	51	4		4	FANCB	23	14863291	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	1087465	14863291	140407269	14975	18591											
FANCB	2187	broad.mit.edu	37	X	14868629	14868629	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:14868629C>T	ENST00000398334.1	-	7	1761	c.1494G>A	c.(1492-1494)aaG>aaA	p.K498K	FANCB_ENST00000324138.3_Silent_p.K498K	NM_001018113.1	NP_001018123.1	Q8NB91	FANCB_HUMAN	Fanconi anemia, complementation group B	498					DNA repair	nucleoplasm				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24	Hepatocellular(33;0.183)					TTACTTACAGCTTCAAAGAAG	0.353								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				66	105					0	0	1	0	0	T	14868629	C	T	14868629	2	4	81	1	0	0	0	0	0	0	0	1	5696	796	28	2		2	FANCB	23	14868629	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	5338	14868629	140401931	14976	18592											
ASB9	140462	broad.mit.edu	37	X	15266936	15266936	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:15266936A>G	ENST00000546332.1	-	7	1173	c.690T>C	c.(688-690)gcT>gcC	p.A230A	ASB9_ENST00000380488.4_Silent_p.A230A|ASB9_ENST00000380485.3_Silent_p.A230A|ASB9_ENST00000380483.3_Silent_p.A220A|ASB9_ENST00000473862.1_5'UTR	NM_001168531.1	NP_001162003.1	Q96DX5	ASB9_HUMAN	ankyrin repeat and SOCS box containing 9	230					intracellular signal transduction					breast(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(10)	15	Hepatocellular(33;0.183)					GTTTGCCTTCAGCATTCTTGG	0.562													22	47					0	0	1	0	0	G	15266936	A	G	15266936	2	3	81	1	0	0	0	0	0	0	0	1	1029	175	7	3		3	ASB9	23	15266936	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	398307	15266936	140003624	14977	18593											
PIGA	5277	broad.mit.edu	37	X	15349838	15349838	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:15349838T>C	ENST00000333590.4	-	2	299	c.215A>G	c.(214-216)cAt>cGt	p.H72R	PIGA_ENST00000428964.1_Intron|PIGA_ENST00000542278.1_Intron|PIGA_ENST00000482148.1_5'UTR	NM_002641.3	NP_002632.1	P37287	PIGA_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class A	72					C-terminal protein lipidation|positive regulation of metabolic process|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity|protein binding			endometrium(2)|kidney(2)|large_intestine(2)|ovary(1)|prostate(2)|urinary_tract(1)	10	Hepatocellular(33;0.183)					TCCATAAGCATGGGTGACAAT	0.458													49	84					0	0	1	0	0	C	15349838	T	C	15349838	3	2	81	1	0	0	0	0	1	0	0	0	11932	1464	51	3	1259	3	PIGA	23	15349838	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	82902	15349838	139920722	14978	18594											
PIGA	5277	broad.mit.edu	37	X	15350018	15350018	+	Translation_Start_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:15350018C>T	ENST00000428964.1	-	0	134				PIGA_ENST00000333590.4_Missense_Mutation_p.R12H|PIGA_ENST00000542278.1_Intron|PIGA_ENST00000482148.1_5'UTR			P37287	PIGA_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class A						C-terminal protein lipidation|positive regulation of metabolic process|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity|protein binding			endometrium(2)|kidney(2)|large_intestine(2)|ovary(1)|prostate(2)|urinary_tract(1)	10	Hepatocellular(33;0.183)					AGCTGAGGCACGGTGGCCATT	0.473													37	68					0	0	1	0	0	T	15350018	C	T	15350018	1	4	81	1	0	0	0	0	0	0	0	0	11932	536	19	1		1	PIGA	23	15350018	Translation_Start_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	180	15350018	139920542	14979	18595											
BMX	660	broad.mit.edu	37	X	15527469	15527469	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:15527469A>T	ENST00000357607.2	+	3	344	c.156A>T	c.(154-156)aaA>aaT	p.K52N	BMX_ENST00000463891.1_3'UTR|BMX_ENST00000348343.6_Missense_Mutation_p.K52N|BMX_ENST00000342014.6_Missense_Mutation_p.K52N			P51813	BMX_HUMAN	BMX non-receptor tyrosine kinase	52	PH.				cellular component disassembly involved in apoptosis|intracellular signal transduction|mesoderm development	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding|signal transducer activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(14)|ovary(2)|urinary_tract(3)	30	Hepatocellular(33;0.183)					GCAGCAGAAAAGGATCCATTG	0.403													6	22					0	0	1	0	0	T	15527469	A	T	15527469	3	4	81	1	0	0	0	0	1	0	0	0	1472	69	3	5	162	5	BMX	23	15527469	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	177451	15527469	139743091	14980	18596											
ACE2	59272	broad.mit.edu	37	X	15584454	15584454	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:15584454A>T	ENST00000427411.1	-	17	2252	c.2036T>A	c.(2035-2037)aTc>aAc	p.I679N	ACE2_ENST00000252519.3_Missense_Mutation_p.I679N	NM_021804.2	NP_068576.1	Q9BYF1	ACE2_HUMAN	angiotensin I converting enzyme 2	679					angiotensin-mediated drinking behavior|proteolysis|receptor biosynthetic process|regulation of cell proliferation|virion attachment, binding of host cell surface receptor	cell surface|extracellular space|integral to membrane|membrane raft|plasma membrane	carboxypeptidase activity|glycoprotein binding|metallopeptidase activity|peptidyl-dipeptidase activity|viral receptor activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	32	Hepatocellular(33;0.183)				Moexipril(DB00691)	ATTAAAGGAGATTCTTGGTTT	0.383													80	126					0	0	1	0	0	T	15584454	A	T	15584454	3	4	81	1	0	0	0	0	1	0	0	0	137	333	12	4	393	4	ACE2	23	15584454	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	56985	15584454	139686106	14981	18597											
ACE2	59272	broad.mit.edu	37	X	15596323	15596323	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:15596323C>T	ENST00000427411.1	-	10	1402	c.1186G>A	c.(1186-1188)Gct>Act	p.A396T	ACE2_ENST00000252519.3_Missense_Mutation_p.A396T	NM_021804.2	NP_068576.1	Q9BYF1	ACE2_HUMAN	angiotensin I converting enzyme 2	396					angiotensin-mediated drinking behavior|proteolysis|receptor biosynthetic process|regulation of cell proliferation|virion attachment, binding of host cell surface receptor	cell surface|extracellular space|integral to membrane|membrane raft|plasma membrane	carboxypeptidase activity|glycoprotein binding|metallopeptidase activity|peptidyl-dipeptidase activity|viral receptor activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	32	Hepatocellular(33;0.183)				Moexipril(DB00691)	CCTTCATTAGCTCCATTTCTT	0.433													26	46					0	0	1	0	0	T	15596323	C	T	15596323	3	4	81	1	0	0	0	0	1	0	0	0	137	797	28	2	1271	2	ACE2	23	15596323	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	11869	15596323	139674237	14982	18598											
ACE2	59272	broad.mit.edu	37	X	15609980	15609980	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:15609980C>A	ENST00000427411.1	-	5	656		c.e5-1		ACE2_ENST00000252519.3_Splice_Site	NM_021804.2	NP_068576.1	Q9BYF1	ACE2_HUMAN	angiotensin I converting enzyme 2						angiotensin-mediated drinking behavior|proteolysis|receptor biosynthetic process|regulation of cell proliferation|virion attachment, binding of host cell surface receptor	cell surface|extracellular space|integral to membrane|membrane raft|plasma membrane	carboxypeptidase activity|glycoprotein binding|metallopeptidase activity|peptidyl-dipeptidase activity|viral receptor activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	32	Hepatocellular(33;0.183)				Moexipril(DB00691)	TCATTCAAACCTGTTATCCCA	0.378													9	232					3.86212e-05	4.27865e-05	1	1	0	A	15609980	C	A	15609980	5	1	81	1	0	0	0	0	0	0	1	0	137	695	24	4	2038	4	ACE2	23	15609980	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	13657	15609980	139660580	14983	18599											
ACE2	59272	broad.mit.edu	37	X	15618961	15618961	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:15618961G>A	ENST00000427411.1	-	2	290	c.74C>T	c.(73-75)gCc>gTc	p.A25V	ACE2_ENST00000252519.3_Missense_Mutation_p.A25V	NM_021804.2	NP_068576.1	Q9BYF1	ACE2_HUMAN	angiotensin I converting enzyme 2	25					angiotensin-mediated drinking behavior|proteolysis|receptor biosynthetic process|regulation of cell proliferation|virion attachment, binding of host cell surface receptor	cell surface|extracellular space|integral to membrane|membrane raft|plasma membrane	carboxypeptidase activity|glycoprotein binding|metallopeptidase activity|peptidyl-dipeptidase activity|viral receptor activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	32	Hepatocellular(33;0.183)				Moexipril(DB00691)	AAATGTCTTGGCCTGTTCCTC	0.453													37	58					0	0	1	0	0	A	15618961	G	A	15618961	3	1	81	1	0	0	0	0	1	0	0	0	137	1203	42	2	2415	2	ACE2	23	15618961	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	8981	15618961	139651599	14984	18600											
GRPR	2925	broad.mit.edu	37	X	16170513	16170513	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:16170513C>T	ENST00000380289.2	+	3	1298	c.900C>T	c.(898-900)caC>caT	p.H300H		NM_005314.2	NP_005305.1	P30550	GRPR_HUMAN	gastrin-releasing peptide receptor	300					cell proliferation	integral to plasma membrane	bombesin receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(3)|stomach(1)|upper_aerodigestive_tract(3)	25	Hepatocellular(33;0.183)					CCATGCTCCACTTTGTCACCA	0.557													53	87					0	0	1	0	0	T	16170513	C	T	16170513	2	4	81	1	0	0	0	0	0	0	0	1	6849	564	20	2		2	GRPR	23	16170513	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	551552	16170513	139100047	14985	18601											
CTPS2	56474	broad.mit.edu	37	X	16688716	16688716	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:16688716C>A	ENST00000443824.1	-	11	1919	c.1176G>T	c.(1174-1176)aaG>aaT	p.K392N	CTPS2_ENST00000380241.3_Missense_Mutation_p.K392N|CTPS2_ENST00000359276.4_Missense_Mutation_p.K392N	NM_001144002.1	NP_001137474.1	Q9NRF8	PYRG2_HUMAN	CTP synthase 2	392	Glutamine amidotransferase type-1.				glutamine metabolic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine nucleotide biosynthetic process	cytosol	ATP binding|CTP synthase activity			breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	Hepatocellular(33;0.0997)					GAAAAGGAATCTTCTTTGTCC	0.388													10	218					0.000978159	0.00104673	1	1	0	A	16688716	C	A	16688716	3	1	81	1	0	0	0	0	1	0	0	0	4047	912	32	4	616	4	CTPS2	23	16688716	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	518203	16688716	138581844	14986	18602											
RBBP7	5931	broad.mit.edu	37	X	16863952	16863952	+	Splice_Site	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:16863952A>G	ENST00000380087.2	-	11	1568	c.1208T>C	c.(1207-1209)aTg>aCg	p.M403T	RBBP7_ENST00000380084.4_Splice_Site_p.M447T|RBBP7_ENST00000404022.1_Splice_Site_p.M394T			Q16576	RBBP7_HUMAN	retinoblastoma binding protein 7	403					cell proliferation|cellular heat acclimation|CenH3-containing nucleosome assembly at centromere|DNA replication|multicellular organismal development|negative regulation of cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex|NuRD complex	protein binding			biliary_tract(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	25	Hepatocellular(33;0.0997)					TTAACTCACCATTTGCCATAT	0.363													5	51					0	0	1	0	0	G	16863952	A	G	16863952	5	3	81	1	0	0	0	0	0	0	1	0	13156	231	8	3	77	3	RBBP7	23	16863952	Splice_Site	SNP	A	TCGA-DU-6392-01A-11D-1705-08	175236	16863952	138406608	14987	18603											
RBBP7	5931	broad.mit.edu	37	X	16870701	16870701	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:16870701G>A	ENST00000380087.2	-	8	1296	c.936C>T	c.(934-936)ttC>ttT	p.F312F	RBBP7_ENST00000380084.4_Silent_p.F356F|RBBP7_ENST00000404022.1_Silent_p.F303F			Q16576	RBBP7_HUMAN	retinoblastoma binding protein 7	312					cell proliferation|cellular heat acclimation|CenH3-containing nucleosome assembly at centromere|DNA replication|multicellular organismal development|negative regulation of cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex|NuRD complex	protein binding	p.F312F(1)		biliary_tract(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	25	Hepatocellular(33;0.0997)					TATGAGATTCGAAGGTATGGA	0.338													35	53					0	0	1	0	0	A	16870701	G	A	16870701	2	1	81	1	0	0	0	0	0	0	0	1	13156	1049	37	1		1	RBBP7	23	16870701	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	6749	16870701	138399859	14988	18604											
REPS2	9185	broad.mit.edu	37	X	17065504	17065504	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:17065504G>A	ENST00000357277.3	+	6	977	c.806G>A	c.(805-807)aGc>aAc	p.S269N	REPS2_ENST00000303843.7_Missense_Mutation_p.S268N|REPS2_ENST00000380064.4_Missense_Mutation_p.S129N	NM_001080975.1|NM_004726.2	NP_001074444.1|NP_004717.2	Q8NFH8	REPS2_HUMAN	RALBP1 associated Eps domain containing 2	269					epidermal growth factor receptor signaling pathway|protein complex assembly	cytoplasm	calcium ion binding|protein binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(2)|skin(3)|urinary_tract(1)	17	Hepatocellular(33;0.183)					CAGGATAACAGCAGTTACCCC	0.418													50	87					0	0	1	0	0	A	17065504	G	A	17065504	3	1	81	1	0	0	0	0	1	0	0	0	13281	971	34	2	828	2	REPS2	23	17065504	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	194803	17065504	138205056	14989	18605											
NHS	4810	broad.mit.edu	37	X	17710490	17710490	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:17710490G>T	ENST00000380060.3	+	3	1092	c.754G>T	c.(754-756)Gca>Tca	p.A252S	NHS_ENST00000398097.3_Missense_Mutation_p.A75S	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	252						nucleus				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					AGAGCAAAGAGCAGCTGCCCC	0.517													43	53					1.5731e-28	2.09269e-28	1	1	0	T	17710490	G	T	17710490	3	4	81	1	0	0	0	0	1	0	0	0	10458	971	34	4	802	4	NHS	23	17710490	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	644986	17710490	137560070	14990	18606											
NHS	4810	broad.mit.edu	37	X	17744597	17744597	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:17744597G>A	ENST00000380060.3	+	6	2646	c.2308G>A	c.(2308-2310)Gac>Aac	p.D770N	NHS_ENST00000398097.3_Missense_Mutation_p.D614N	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	770						nucleus				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					CATGCACTTTGACTGTGGTCT	0.493													17	137					0	0	1	0	0	A	17744597	G	A	17744597	3	1	81	1	0	0	0	0	1	0	0	0	10458	1290	45	2	2435	2	NHS	23	17744597	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	34107	17744597	137525963	14991	18607											
NHS	4810	broad.mit.edu	37	X	17745136	17745136	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:17745136G>A	ENST00000380060.3	+	6	3185	c.2847G>A	c.(2845-2847)acG>acA	p.T949T	NHS_ENST00000398097.3_Silent_p.T793T	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	949						nucleus				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					GCACCGCTACGGGTACCACAG	0.438													41	71					0	0	1	0	0	A	17745136	G	A	17745136	2	1	81	1	0	0	0	0	0	0	0	1	10458	1103	39	1		1	NHS	23	17745136	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	539	17745136	137525424	14992	18608											
RAI2	10742	broad.mit.edu	37	X	17818660	17818660	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:17818660C>T	ENST00000545871.1	-	3	1931	c.1471G>A	c.(1471-1473)Gca>Aca	p.A491T	RAI2_ENST00000331511.1_Missense_Mutation_p.A491T|RAI2_ENST00000415486.3_Missense_Mutation_p.A441T|RAI2_ENST00000360011.1_Missense_Mutation_p.A491T|RAI2_ENST00000451717.1_Missense_Mutation_p.A491T	NM_001172739.1|NM_001172743.1	NP_001166210|NP_001166214	Q9Y5P3	RAI2_HUMAN	retinoic acid induced 2	491					embryo development					breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	22	Hepatocellular(33;0.183)					AGGGGCTCTGCATTTCCCATG	0.478													47	523					0	0	1	0	0	T	17818660	C	T	17818660	3	4	81	1	0	0	0	0	1	0	0	0	13061	710	25	2	125	2	RAI2	23	17818660	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	73524	17818660	137451900	14993	18609											
RAI2	10742	broad.mit.edu	37	X	17818948	17818948	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:17818948G>T	ENST00000545871.1	-	3	1643	c.1183C>A	c.(1183-1185)Cca>Aca	p.P395T	RAI2_ENST00000331511.1_Missense_Mutation_p.P395T|RAI2_ENST00000415486.3_Missense_Mutation_p.P345T|RAI2_ENST00000360011.1_Missense_Mutation_p.P395T|RAI2_ENST00000451717.1_Missense_Mutation_p.P395T	NM_001172739.1|NM_001172743.1	NP_001166210|NP_001166214	Q9Y5P3	RAI2_HUMAN	retinoic acid induced 2	395					embryo development					breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	22	Hepatocellular(33;0.183)					ATCATGGCTGGGGCCTCATGG	0.542													6	79					0.000157383	0.000171784	1	1	0	T	17818948	G	T	17818948	3	4	81	1	0	0	0	0	1	0	0	0	13061	1232	43	5	413	5	RAI2	23	17818948	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	288	17818948	137451612	14994	18610											
RAI2	10742	broad.mit.edu	37	X	17819072	17819072	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:17819072G>A	ENST00000545871.1	-	3	1519	c.1059C>T	c.(1057-1059)tcC>tcT	p.S353S	RAI2_ENST00000331511.1_Silent_p.S353S|RAI2_ENST00000415486.3_Silent_p.S303S|RAI2_ENST00000360011.1_Silent_p.S353S|RAI2_ENST00000451717.1_Silent_p.S353S	NM_001172739.1|NM_001172743.1	NP_001166210|NP_001166214	Q9Y5P3	RAI2_HUMAN	retinoic acid induced 2	353					embryo development					breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	22	Hepatocellular(33;0.183)					GGGGAGGCTCGGATTTCCGGT	0.547													27	46					0	0	1	0	0	A	17819072	G	A	17819072	2	1	81	1	0	0	0	0	0	0	0	1	13061	1103	39	1		1	RAI2	23	17819072	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	124	17819072	137451488	14995	18611											
BEND2	139105	broad.mit.edu	37	X	18195787	18195787	+	Missense_Mutation	SNP	C	C	T	rs146293624		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:18195787C>T	ENST00000380033.4	-	10	1664	c.1532G>A	c.(1531-1533)cGt>cAt	p.R511H	BEND2_ENST00000380030.3_Missense_Mutation_p.R420H	NM_153346.4	NP_699177.2	Q8NDZ0	BEND2_HUMAN	BEN domain containing 2	511	BEN 1.									NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1)	49						GAACAAAATACGAACCAAGTA	0.428													159	228					0	0	1	0	0	T	18195787	C	T	18195787	3	4	81	1	0	0	0	0	1	0	0	0	1396	536	19	1	913	1	BEND2	23	18195787	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	376715	18195787	137074773	14996	18612											
BEND2	139105	broad.mit.edu	37	X	18234728	18234728	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:18234728C>T	ENST00000380033.4	-	2	283	c.151G>A	c.(151-153)Gca>Aca	p.A51T	BEND2_ENST00000380030.3_Missense_Mutation_p.A51T	NM_153346.4	NP_699177.2	Q8NDZ0	BEND2_HUMAN	BEN domain containing 2	51										NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1)	49						GGATTATCTGCTGTGACATAA	0.408													9	66					0	0	1	0	0	T	18234728	C	T	18234728	3	4	81	1	0	0	0	0	1	0	0	0	1396	797	28	2	2326	2	BEND2	23	18234728	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	38941	18234728	137035832	14997	18613											
SCML2	10389	broad.mit.edu	37	X	18264933	18264933	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:18264933G>A	ENST00000251900.4	-	13	1745	c.1586C>T	c.(1585-1587)gCt>gTt	p.A529V	SCML2_ENST00000398048.3_Missense_Mutation_p.A265V	NM_006089.2	NP_006080.1	Q9UQR0	SCML2_HUMAN	sex comb on midleg-like 2 (Drosophila)	529					anatomical structure morphogenesis	PcG protein complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	36	Hepatocellular(33;0.183)					ACTTCCCCCAGCAAACAATGG	0.378													14	149					0	0	1	0	0	A	18264933	G	A	18264933	3	1	81	1	0	0	0	0	1	0	0	0	13964	971	34	2	528	2	SCML2	23	18264933	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	30205	18264933	137005627	14998	18614											
SCML2	10389	broad.mit.edu	37	X	18276362	18276362	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:18276362C>T	ENST00000251900.4	-	10	1234	c.1075G>A	c.(1075-1077)Gtc>Atc	p.V359I	SCML2_ENST00000398048.3_Missense_Mutation_p.V95I	NM_006089.2	NP_006080.1	Q9UQR0	SCML2_HUMAN	sex comb on midleg-like 2 (Drosophila)	359					anatomical structure morphogenesis	PcG protein complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	36	Hepatocellular(33;0.183)					TTTACATAGACACAGACTTGA	0.423													36	43					0	0	1	0	0	T	18276362	C	T	18276362	3	4	81	1	0	0	0	0	1	0	0	0	13964	478	17	2	1051	2	SCML2	23	18276362	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	11429	18276362	136994198	14999	18615											
CDKL5	6792	broad.mit.edu	37	X	18622549	18622549	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:18622549C>A	ENST00000379989.3	+	13	1790	c.1505C>A	c.(1504-1506)tCt>tAt	p.S502Y	CDKL5_ENST00000379996.3_Missense_Mutation_p.S502Y|CDKL5_ENST00000463994.1_3'UTR	NM_001037343.1	NP_001032420.1	O76039	CDKL5_HUMAN	cyclin-dependent kinase-like 5	502					neuron migration|positive regulation of axon extension|positive regulation of dendrite morphogenesis|positive regulation of Rac GTPase activity|protein autophosphorylation	dendrite cytoplasm|dendritic growth cone|nucleus	ATP binding|cyclin-dependent protein kinase activity|Rac GTPase binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1)	44	Hepatocellular(33;0.183)					AGCAACCTTTCTGAAGCCAGG	0.537													15	130					1.3612e-06	1.56842e-06	1	1	0	A	18622549	C	A	18622549	3	1	81	1	0	0	0	0	1	0	0	0	3179	913	32	4	1547	4	CDKL5	23	18622549	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	346187	18622549	136648011	15000	18616											
CDKL5	6792	broad.mit.edu	37	X	18622863	18622863	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:18622863C>T	ENST00000379989.3	+	13	2104	c.1819C>T	c.(1819-1821)Cgt>Tgt	p.R607C	CDKL5_ENST00000379996.3_Missense_Mutation_p.R607C|CDKL5_ENST00000463994.1_3'UTR	NM_001037343.1	NP_001032420.1	O76039	CDKL5_HUMAN	cyclin-dependent kinase-like 5	607					neuron migration|positive regulation of axon extension|positive regulation of dendrite morphogenesis|positive regulation of Rac GTPase activity|protein autophosphorylation	dendrite cytoplasm|dendritic growth cone|nucleus	ATP binding|cyclin-dependent protein kinase activity|Rac GTPase binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1)	44	Hepatocellular(33;0.183)					TTCCCAGCAACGTCCTCATAG	0.522													103	180					0	0	1	0	0	T	18622863	C	T	18622863	3	4	81	1	0	0	0	0	1	0	0	0	3179	536	19	1	1861	1	CDKL5	23	18622863	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	314	18622863	136647697	15001	18617											
CDKL5	6792	broad.mit.edu	37	X	18643246	18643246	+	Splice_Site	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:18643246A>G	ENST00000379989.3	+	18	2661		c.e18-1		CDKL5_ENST00000379996.3_Splice_Site	NM_001037343.1	NP_001032420.1	O76039	CDKL5_HUMAN	cyclin-dependent kinase-like 5						neuron migration|positive regulation of axon extension|positive regulation of dendrite morphogenesis|positive regulation of Rac GTPase activity|protein autophosphorylation	dendrite cytoplasm|dendritic growth cone|nucleus	ATP binding|cyclin-dependent protein kinase activity|Rac GTPase binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1)	44	Hepatocellular(33;0.183)					ATTTTGCTCTAGGTACCCAAT	0.458													15	140					0	0	1	0	0	G	18643246	A	G	18643246	5	3	81	1	0	0	0	0	0	0	1	0	3179	434	15	3	2437	3	CDKL5	23	18643246	Splice_Site	SNP	A	TCGA-DU-6392-01A-11D-1705-08	20383	18643246	136627314	15002	18618											
RS1	6247	broad.mit.edu	37	X	18665341	18665341	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:18665341T>C	ENST00000379984.3	-	4	336	c.296A>G	c.(295-297)aAc>aGc	p.N99S	CDKL5_ENST00000379996.3_Intron|CDKL5_ENST00000379989.3_Intron|RS1_ENST00000476595.1_5'UTR	NM_000330.3	NP_000321.1	O15537	XLRS1_HUMAN	retinoschisin 1	99	F5/8 type C.				cell adhesion|multicellular organismal development|response to stimulus|visual perception	extracellular space				cervix(1)|endometrium(4)|large_intestine(5)|lung(2)|ovary(2)|skin(1)	15	Hepatocellular(33;0.183)					CCGGGCCTTGTTTGCAGTCCA	0.532													26	47					0	0	1	0	0	C	18665341	T	C	18665341	3	2	81	1	0	0	0	0	1	0	0	0	13745	1725	60	3	390	3	RS1	23	18665341	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	22095	18665341	136605219	15003	18619											
CDKL5	6792	broad.mit.edu	37	X	18668631	18668631	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:18668631C>T	ENST00000379989.3	+	21	3184	c.2899C>T	c.(2899-2901)Ctc>Ttc	p.L967F	CDKL5_ENST00000379996.3_Missense_Mutation_p.L967F|RS1_ENST00000379984.3_Intron|RS1_ENST00000476595.1_5'UTR	NM_001037343.1	NP_001032420.1	O76039	CDKL5_HUMAN	cyclin-dependent kinase-like 5	967					neuron migration|positive regulation of axon extension|positive regulation of dendrite morphogenesis|positive regulation of Rac GTPase activity|protein autophosphorylation	dendrite cytoplasm|dendritic growth cone|nucleus	ATP binding|cyclin-dependent protein kinase activity|Rac GTPase binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1)	44	Hepatocellular(33;0.183)					CTATCCAGTACTCCAGGTCCG	0.567													28	33					0	0	1	0	0	T	18668631	C	T	18668631	3	4	81	1	0	0	0	0	1	0	0	0	3179	565	20	2	2973	2	CDKL5	23	18668631	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3290	18668631	136601929	15004	18620											
PPEF1	5475	broad.mit.edu	37	X	18768031	18768031	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:18768031G>A	ENST00000361511.4	+	7	851	c.357G>A	c.(355-357)acG>acA	p.T119T	PPEF1_ENST00000543630.1_Silent_p.T119T|PPEF1_ENST00000359763.6_Intron|PPEF1_ENST00000471570.1_3'UTR|PPEF1_ENST00000349874.5_Silent_p.T119T|PPEF1_ENST00000544635.1_Silent_p.T54T	NM_006240.2|NM_152224.1	NP_006231.2|NP_689410.1	O14829	PPE1_HUMAN	protein phosphatase, EF-hand calcium binding domain 1	119					detection of stimulus involved in sensory perception|protein dephosphorylation		calcium ion binding|iron ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity			breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	43	Hepatocellular(33;0.183)					TCACTTGTACGGATATTGATT	0.433													66	115					0	0	1	0	0	A	18768031	G	A	18768031	2	1	81	1	0	0	0	0	0	0	0	1	12352	1103	39	1		1	PPEF1	23	18768031	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	99400	18768031	136502529	15005	18621											
PHKA2	5256	broad.mit.edu	37	X	18912469	18912469	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:18912469G>A	ENST00000379942.4	-	32	4055	c.3390C>T	c.(3388-3390)cgC>cgT	p.R1130R	PHKA2_ENST00000481718.1_5'UTR|PHKA2-AS1_ENST00000439295.1_RNA	NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	1130					glucose metabolic process|glycogen catabolic process	cytosol|phosphorylase kinase complex|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61	Hepatocellular(33;0.183)					GCTGCGGCACGCGGTTCAGCA	0.602													25	45					0	0	1	0	0	A	18912469	G	A	18912469	2	1	81	1	0	0	0	0	0	0	0	1	11892	1074	38	1		1	PHKA2	23	18912469	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	144438	18912469	136358091	15006	18622											
PHKA2	5256	broad.mit.edu	37	X	18926165	18926165	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:18926165G>A	ENST00000379942.4	-	22	3035	c.2370C>T	c.(2368-2370)agC>agT	p.S790S		NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	790					glucose metabolic process|glycogen catabolic process	cytosol|phosphorylase kinase complex|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61	Hepatocellular(33;0.183)					TTGTGTCCCAGCTGGGACCCC	0.517													26	179					0	0	1	0	0	A	18926165	G	A	18926165	2	1	81	1	0	0	0	0	0	0	0	1	11892	962	34	2		2	PHKA2	23	18926165	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	13696	18926165	136344395	15007	18623											
PHKA2	5256	broad.mit.edu	37	X	18938252	18938252	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:18938252G>A	ENST00000379942.4	-	18	2526	c.1861C>T	c.(1861-1863)Cca>Tca	p.P621S		NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	621					glucose metabolic process|glycogen catabolic process	cytosol|phosphorylase kinase complex|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61	Hepatocellular(33;0.183)					TCACAGTCTGGATCCAGAAAA	0.433													36	92					0	0	1	0	0	A	18938252	G	A	18938252	3	1	81	1	0	0	0	0	1	0	0	0	11892	1174	41	2	1910	2	PHKA2	23	18938252	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	12087	18938252	136332308	15008	18624											
PHKA2	5256	broad.mit.edu	37	X	18954256	18954256	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:18954256G>A	ENST00000379942.4	-	11	1719	c.1054C>T	c.(1054-1056)Cga>Tga	p.R352*		NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	352					glucose metabolic process|glycogen catabolic process	cytosol|phosphorylase kinase complex|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61	Hepatocellular(33;0.183)					AGGGCCTCTCGGTATTCTTGG	0.527													6	15					0	0	1	0	0	A	18954256	G	A	18954256	4	1	81	1	0	0	0	0	0	1	0	0	11892	1124	39	1	2745	1	PHKA2	23	18954256	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	16004	18954256	136316304	15009	18625											
PHKA2	5256	broad.mit.edu	37	X	18966863	18966863	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:18966863G>T	ENST00000379942.4	-	5	1201	c.536C>A	c.(535-537)gCt>gAt	p.A179D		NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	179					glucose metabolic process|glycogen catabolic process	cytosol|phosphorylase kinase complex|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61	Hepatocellular(33;0.183)					GATACTTACAGCGACTTTATA	0.398													22	323					4.87955e-14	6.177e-14	1	1	0	T	18966863	G	T	18966863	5	4	81	1	0	0	0	0	0	0	1	0	11892	985	34	4	3287	4	PHKA2	23	18966863	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	12607	18966863	136303697	15010	18626											
GPR64	10149	broad.mit.edu	37	X	19013148	19013148	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:19013148G>T	ENST00000379878.3	-	27	2928	c.2687C>A	c.(2686-2688)aCt>aAt	p.T896N	GPR64_ENST00000356606.4_Missense_Mutation_p.T898N|GPR64_ENST00000360279.4_Missense_Mutation_p.T890N|GPR64_ENST00000340581.3_Missense_Mutation_p.T793N|GPR64_ENST00000357544.3_Missense_Mutation_p.T882N|GPR64_ENST00000354791.3_Missense_Mutation_p.T896N|GPR64_ENST00000379873.2_Intron|GPR64_ENST00000357991.3_Missense_Mutation_p.T909N|GPR64_ENST00000379869.3_Missense_Mutation_p.T912N|GPR64_ENST00000379876.1_Missense_Mutation_p.T888N	NM_001184833.1	NP_001171762.1	Q8IZP9	GPR64_HUMAN	G protein-coupled receptor 64	912					neuropeptide signaling pathway|spermatogenesis	cytoplasm|integral to plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(18)|stomach(1)|urinary_tract(1)	42	Hepatocellular(33;0.183)					TAAACCATTAGTAGCAGTTTT	0.423													40	83					5.43694e-19	7.07028e-19	1	1	0	T	19013148	G	T	19013148	3	4	81	1	0	0	0	0	1	0	0	0	6745	1029	36	4	326	4	GPR64	23	19013148	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	46285	19013148	136257412	15011	18627											
MAP3K15	389840	broad.mit.edu	37	X	19389497	19389497	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:19389497T>C	ENST00000338883.4	-	23	3259	c.3260A>G	c.(3259-3261)cAg>cGg	p.Q1087R	MAP3K15_ENST00000359173.3_Missense_Mutation_p.Q522R|MAP3K15_ENST00000518578.1_5'UTR|MAP3K15_ENST00000469203.2_Missense_Mutation_p.Q919R	NM_001001671.3	NP_001001671.3	Q6ZN16	M3K15_HUMAN	mitogen-activated protein kinase kinase kinase 15	1087							ATP binding|MAP kinase kinase kinase activity|metal ion binding			NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	Hepatocellular(33;0.183)					CAGGTGAATCTGACTGATGGA	0.537													12	100					0	0	1	0	0	C	19389497	T	C	19389497	3	2	81	1	0	0	0	0	1	0	0	0	9299	1580	55	3	709	3	MAP3K15	23	19389497	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	376349	19389497	135881063	15012	18628											
MAP3K15	389840	broad.mit.edu	37	X	19389624	19389624	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:19389624C>T	ENST00000338883.4	-	23	3132	c.3133G>A	c.(3133-3135)Gtt>Att	p.V1045I	MAP3K15_ENST00000359173.3_Missense_Mutation_p.V480I|MAP3K15_ENST00000518578.1_5'UTR|MAP3K15_ENST00000469203.2_Missense_Mutation_p.V877I	NM_001001671.3	NP_001001671.3	Q6ZN16	M3K15_HUMAN	mitogen-activated protein kinase kinase kinase 15	1045							ATP binding|MAP kinase kinase kinase activity|metal ion binding			NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	Hepatocellular(33;0.183)					ATGTGTCCAACTGAGAGATGC	0.483													7	93					0	0	1	0	0	T	19389624	C	T	19389624	3	4	81	1	0	0	0	0	1	0	0	0	9299	565	20	2	836	2	MAP3K15	23	19389624	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	127	19389624	135880936	15013	18629											
SH3KBP1	30011	broad.mit.edu	37	X	19626117	19626117	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:19626117C>T	ENST00000397821.3	-	9	1234	c.944G>A	c.(943-945)cGa>cAa	p.R315Q	SH3KBP1_ENST00000541422.1_Missense_Mutation_p.R54Q|SH3KBP1_ENST00000477102.1_5'UTR|SH3KBP1_ENST00000379716.1_Missense_Mutation_p.R77Q|SH3KBP1_ENST00000379698.4_Missense_Mutation_p.R278Q|SH3KBP1_ENST00000379697.3_Missense_Mutation_p.R359Q	NM_031892.2	NP_114098.1	Q96B97	SH3K1_HUMAN	SH3-domain kinase binding protein 1	315	SH3 3.				apoptosis|cell-cell signaling|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	cytoplasmic vesicle membrane|cytoskeleton|cytosol|focal adhesion|nucleus|synapse|synaptosome	SH3 domain binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(4)	29						GAACACGCCTCGTCTGCCGTT	0.527													24	24					0	0	1	0	0	T	19626117	C	T	19626117	3	4	81	1	0	0	0	0	1	0	0	0	14310	884	31	1	1093	1	SH3KBP1	23	19626117	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	236493	19626117	135644443	15014	18630											
SH3KBP1	30011	broad.mit.edu	37	X	19713850	19713850	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:19713850C>A	ENST00000397821.3	-	5	690	c.400G>T	c.(400-402)Gga>Tga	p.G134*	SH3KBP1_ENST00000379698.4_Nonsense_Mutation_p.G97*|SH3KBP1_ENST00000379697.3_Nonsense_Mutation_p.G134*	NM_031892.2	NP_114098.1	Q96B97	SH3K1_HUMAN	SH3-domain kinase binding protein 1	134	SH3 2.				apoptosis|cell-cell signaling|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	cytoplasmic vesicle membrane|cytoskeleton|cytosol|focal adhesion|nucleus|synapse|synaptosome	SH3 domain binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(4)	29						TCCCACCATCCTTCCTCTACC	0.473													26	48					1.17739e-12	1.47479e-12	1	1	0	A	19713850	C	A	19713850	4	1	81	1	0	0	0	0	0	1	0	0	14310	690	24	4	1669	4	SH3KBP1	23	19713850	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	87733	19713850	135556710	15015	18631											
CXorf23	256643	broad.mit.edu	37	X	19983521	19983521	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:19983521C>A	ENST00000379687.3	-	3	948	c.915G>T	c.(913-915)aaG>aaT	p.K305N	CXorf23_ENST00000379682.4_Missense_Mutation_p.K305N|CXorf23_ENST00000356980.3_Missense_Mutation_p.K305N	NM_198279.3	NP_938020.2	A2AJT9	CX023_HUMAN	chromosome X open reading frame 23	305						mitochondrion				endometrium(2)|large_intestine(1)|lung(6)|skin(1)|urinary_tract(1)	11						TATCTTCTTCCTTACAGTACT	0.403													61	62					1.4709e-25	1.94687e-25	1	1	0	A	19983521	C	A	19983521	3	1	81	1	0	0	0	0	1	0	0	0	4126	680	24	4	1169	4	CXorf23	23	19983521	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	269671	19983521	135287039	15016	18632											
MAP7D2	256714	broad.mit.edu	37	X	20034272	20034272	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:20034272C>T	ENST00000379651.3	-	10	1479	c.1461G>A	c.(1459-1461)gaG>gaA	p.E487E	MAP7D2_ENST00000443379.3_Silent_p.E442E|MAP7D2_ENST00000452324.3_Silent_p.E435E|MAP7D2_ENST00000543767.1_Silent_p.E372E|MAP7D2_ENST00000379643.5_Silent_p.E528E	NM_152780.3	NP_689993.2	Q96T17	MA7D2_HUMAN	MAP7 domain containing 2	487										NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	37						tcaacaacagctcctcctcag	0.438													4	14					0	0	1	0	0	T	20034272	C	T	20034272	2	4	81	1	0	0	0	0	0	0	0	1	9318	796	28	2		2	MAP7D2	23	20034272	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	50751	20034272	135236288	15017	18633											
MAP7D2	256714	broad.mit.edu	37	X	20060732	20060732	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:20060732G>A	ENST00000379651.3	-	7	790	c.772C>T	c.(772-774)Cgg>Tgg	p.R258W	MAP7D2_ENST00000443379.3_Missense_Mutation_p.R213W|MAP7D2_ENST00000452324.3_Missense_Mutation_p.R206W|MAP7D2_ENST00000543767.1_Missense_Mutation_p.R143W|MAP7D2_ENST00000379643.5_Missense_Mutation_p.R299W	NM_152780.3	NP_689993.2	Q96T17	MA7D2_HUMAN	MAP7 domain containing 2	258										NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	37						CGTTGCCCCCGCTTCACCTTC	0.493													62	102					0	0	1	0	0	A	20060732	G	A	20060732	3	1	81	1	0	0	0	0	1	0	0	0	9318	1086	38	1	1462	1	MAP7D2	23	20060732	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	26460	20060732	135209828	15018	18634											
EIF1AX	1964	broad.mit.edu	37	X	20150322	20150322	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:20150322T>C	ENST00000379607.5	-	5	518	c.315A>G	c.(313-315)gcA>gcG	p.A105A	EIF1AX_ENST00000379593.1_Silent_p.A77A	NM_001412.3	NP_001403.1	P47813	IF1AX_HUMAN	eukaryotic translation initiation factor 1A, X-linked	105						cytosol	translation initiation factor activity			endometrium(2)|lung(1)|ovary(1)|prostate(1)	5						GCTCGCCGTATGCCTTCAGAC	0.353													27	46					0	0	1	0	0	C	20150322	T	C	20150322	2	2	81	1	0	0	0	0	0	0	0	1	5018	1451	51	3		3	EIF1AX	23	20150322	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	89590	20150322	135120238	15019	18635											
RPS6KA3	6197	broad.mit.edu	37	X	20185731	20185731	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:20185731G>A	ENST00000379565.3	-	17	1785	c.1578C>T	c.(1576-1578)acC>acT	p.T526T	RPS6KA3_ENST00000479809.1_5'UTR|RPS6KA3_ENST00000540702.1_Silent_p.T497T|RPS6KA3_ENST00000379548.4_Silent_p.T496T|RPS6KA3_ENST00000544447.1_Silent_p.T498T	NM_004586.2	NP_004577.1	P51812	KS6A3_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 3	526	Protein kinase 2.				axon guidance|central nervous system development|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|skeletal system development|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|caspase inhibitor activity|magnesium ion binding|protein serine/threonine kinase activity			breast(4)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(14)|lung(7)|ovary(1)|stomach(1)	41						GATATTCAACGGTTTTAGTTA	0.353													83	171					0	0	1	0	0	A	20185731	G	A	20185731	2	1	81	1	0	0	0	0	0	0	0	1	13704	1103	39	1		1	RPS6KA3	23	20185731	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	35409	20185731	135084829	15020	18636											
RPS6KA3	6197	broad.mit.edu	37	X	20190905	20190905	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:20190905T>C	ENST00000379565.3	-	15	1519	c.1312A>G	c.(1312-1314)Aga>Gga	p.R438G	RPS6KA3_ENST00000479809.1_5'UTR|RPS6KA3_ENST00000540702.1_Missense_Mutation_p.R409G|RPS6KA3_ENST00000379548.4_Missense_Mutation_p.R408G|RPS6KA3_ENST00000544447.1_Missense_Mutation_p.R410G	NM_004586.2	NP_004577.1	P51812	KS6A3_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 3	438	Protein kinase 2.				axon guidance|central nervous system development|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|skeletal system development|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|caspase inhibitor activity|magnesium ion binding|protein serine/threonine kinase activity			breast(4)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(14)|lung(7)|ovary(1)|stomach(1)	41						TGTATACATCTCTTGCAAACA	0.323													5	30					0	0	1	0	0	C	20190905	T	C	20190905	3	2	81	1	0	0	0	0	1	0	0	0	13704	1559	54	3	942	3	RPS6KA3	23	20190905	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	5174	20190905	135079655	15021	18637											
CNKSR2	22866	broad.mit.edu	37	X	21579607	21579607	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:21579607C>A	ENST00000379510.3	+	12	1358	c.1322C>A	c.(1321-1323)tCt>tAt	p.S441Y	CNKSR2_ENST00000485012.1_Intron|CNKSR2_ENST00000425654.2_Intron|CNKSR2_ENST00000543067.1_Missense_Mutation_p.S392Y|CNKSR2_ENST00000279451.4_Missense_Mutation_p.S441Y	NM_014927.3	NP_055742.2	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras 2	441	DUF1170.				regulation of signal transduction	cytoplasm|membrane	protein binding			breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						CGACCTATATCTATGCCAGTG	0.383													9	330					9.70103e-10	1.17698e-09	1	1	0	A	21579607	C	A	21579607	3	1	81	1	0	0	0	0	1	0	0	0	3630	913	32	4	1368	4	CNKSR2	23	21579607	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1388702	21579607	133690953	15022	18638											
CNKSR2	22866	broad.mit.edu	37	X	21609230	21609230	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:21609230C>T	ENST00000425654.2	+	14	2138	c.1658C>T	c.(1657-1659)gCg>gTg	p.A553V	CNKSR2_ENST00000543067.1_Missense_Mutation_p.A534V|CNKSR2_ENST00000379510.3_Missense_Mutation_p.A583V|CNKSR2_ENST00000279451.4_Missense_Mutation_p.A583V	NM_001168647.1	NP_001162118.1	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras 2	583					regulation of signal transduction	cytoplasm|membrane	protein binding			breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						AAGAAAGATGCGAAGAGTTAC	0.403													72	82					0	0	1	0	0	T	21609230	C	T	21609230	3	4	81	1	0	0	0	0	1	0	0	0	3630	768	27	1	1806	1	CNKSR2	23	21609230	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	29623	21609230	133661330	15023	18639											
CNKSR2	22866	broad.mit.edu	37	X	21609293	21609293	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:21609293A>G	ENST00000425654.2	+	14	2201	c.1721A>G	c.(1720-1722)tAt>tGt	p.Y574C	CNKSR2_ENST00000543067.1_Missense_Mutation_p.Y555C|CNKSR2_ENST00000379510.3_Missense_Mutation_p.Y604C|CNKSR2_ENST00000279451.4_Missense_Mutation_p.Y604C	NM_001168647.1	NP_001162118.1	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras 2	604	PH.				regulation of signal transduction	cytoplasm|membrane	protein binding			breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						GCATCCCTTTATTGGTATATT	0.328													6	130					0	0	1	0	0	G	21609293	A	G	21609293	3	3	81	1	0	0	0	0	1	0	0	0	3630	449	16	3	1869	3	CNKSR2	23	21609293	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	63	21609293	133661267	15024	18640											
CNKSR2	22866	broad.mit.edu	37	X	21627188	21627188	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:21627188G>T	ENST00000425654.2	+	19	2535		c.e19-1		CNKSR2_ENST00000543067.1_Splice_Site|CNKSR2_ENST00000279451.4_Splice_Site|CNKSR2_ENST00000379510.3_Splice_Site	NM_001168647.1	NP_001162118.1	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras 2						regulation of signal transduction	cytoplasm|membrane	protein binding			breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						CCTTTCTACAGATGAGTTGCG	0.453													6	42					0.00116845	0.00124301	1	1	0	T	21627188	G	T	21627188	5	4	81	1	0	0	0	0	0	0	1	0	3630	956	33	4	2223	4	CNKSR2	23	21627188	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	17895	21627188	133643372	15025	18641											
KLHL34	257240	broad.mit.edu	37	X	21675840	21675840	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:21675840G>A	ENST00000379499.2	-	1	608	c.67C>T	c.(67-69)Cgc>Tgc	p.R23C		NM_153270.1	NP_695002.1	Q8N239	KLH34_HUMAN	kelch-like family member 34	23								p.R23C(1)		cervix(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	26						CCCTCGGCGCGCAGGGCCTGG	0.642													10	10					0	0	1	0	0	A	21675840	G	A	21675840	3	1	81	1	0	0	0	0	1	0	0	0	8430	1087	38	1	1871	1	KLHL34	23	21675840	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	48652	21675840	133594720	15026	18642											
MBTPS2	51360	broad.mit.edu	37	X	21900676	21900676	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:21900676A>G	ENST00000379484.5	+	11	1562	c.1463A>G	c.(1462-1464)gAt>gGt	p.D488G		NM_015884.3	NP_056968.1	O43462	MBTP2_HUMAN	membrane-bound transcription factor peptidase, site 2	488					cholesterol metabolic process|proteolysis	Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity			breast(2)|endometrium(3)|large_intestine(3)|lung(13)|ovary(1)|skin(2)	24						GGAGACAATGATGTCAAAGAT	0.453													64	110					0	0	1	0	0	G	21900676	A	G	21900676	3	3	81	1	0	0	0	0	1	0	0	0	9412	333	12	3	1505	3	MBTPS2	23	21900676	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	224836	21900676	133369884	15027	18643											
SMS	6611	broad.mit.edu	37	X	21985378	21985378	+	Translation_Start_Site	SNP	G	G	A	rs138924455	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:21985378G>A	ENST00000415881.2	+	0	204				SMS_ENST00000379404.1_Silent_p.S38S|SMS_ENST00000404933.2_Silent_p.S38S|SMS_ENST00000478094.1_3'UTR			P52788	SPSY_HUMAN	spermine synthase						methionine metabolic process|spermine biosynthetic process	cytosol	spermidine synthase activity|spermine synthase activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(2)	14					Spermine(DB00127)	TGGCGGAGTCGGTGCACACCT	0.517													11	31					0	0	1	0	0	A	21985378	G	A	21985378	1	1	81	1	0	0	0	0	0	0	0	0	14867	1103	39	1		1	SMS	23	21985378	Translation_Start_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	84702	21985378	133285182	15028	18644											
SMS	6611	broad.mit.edu	37	X	21990049	21990049	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:21990049G>A	ENST00000404933.2	+	3	457	c.205G>A	c.(205-207)Gtg>Atg	p.V69M	SMS_ENST00000379404.1_Intron|SMS_ENST00000415881.2_Intron|SMS_ENST00000478094.1_Intron	NM_004595.4	NP_004586.2	P52788	SPSY_HUMAN	spermine synthase	69					methionine metabolic process|spermine biosynthetic process	cytosol	spermidine synthase activity|spermine synthase activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(2)	14					Spermine(DB00127)	ACATGGATTGGTGTTGCTGGA	0.368													31	36					0	0	1	0	0	A	21990049	G	A	21990049	3	1	81	1	0	0	0	0	1	0	0	0	14867	1261	44	2	215	2	SMS	23	21990049	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	4671	21990049	133280511	15029	18645											
PHEX	5251	broad.mit.edu	37	X	22115094	22115094	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:22115094C>T	ENST00000379374.4	+	8	1436	c.871C>T	c.(871-873)Cga>Tga	p.R291*	PHEX_ENST00000475778.1_3'UTR|PHEX_ENST00000535894.1_Nonsense_Mutation_p.R194*|PHEX_ENST00000537599.1_Nonsense_Mutation_p.R291*	NM_000444.4	NP_000435.3	P78562	PHEX_HUMAN	phosphate regulating endopeptidase homolog, X-linked	291					biomineral tissue development|cell-cell signaling|protein modification process|proteolysis|skeletal system development	integral to plasma membrane	aminopeptidase activity|metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(2)|endometrium(2)|large_intestine(12)|liver(1)|lung(19)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	42						ACATGAAAACCGAACCAGCGA	0.358													19	45					0	0	1	0	0	T	22115094	C	T	22115094	4	4	81	1	0	0	0	0	0	1	0	0	11867	644	23	1	901	1	PHEX	23	22115094	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	125045	22115094	133155466	15030	18646											
DDX53	168400	broad.mit.edu	37	X	23018282	23018282	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:23018282C>T	ENST00000327968.5	+	1	196	c.108C>T	c.(106-108)ttC>ttT	p.F36F	RP11-40F8.2_ENST00000455399.1_lincRNA	NM_182699.3	NP_874358.2	Q86TM3	DDX53_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 53	36						nucleus	ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|endometrium(5)|kidney(4)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	35						GTGGCCCCTTCGGCCATCAGG	0.572													12	22					0	0	1	0	0	T	23018282	C	T	23018282	2	4	81	1	0	0	0	0	0	0	0	1	4394	883	31	1		1	DDX53	23	23018282	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	903188	23018282	132252278	15031	18647											
PTCHD1	139411	broad.mit.edu	37	X	23353126	23353126	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:23353126G>A	ENST00000379361.4	+	1	994	c.134G>A	c.(133-135)cGc>cAc	p.R45H		NM_173495.2	NP_775766.2	Q96NR3	PTHD1_HUMAN	patched domain containing 1	45					cognition|smoothened signaling pathway	integral to membrane|plasma membrane	hedgehog receptor activity			NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2)	42						AGCTTCAGCCGCTACCAGGTC	0.647													16	25					0	0	1	0	0	A	23353126	G	A	23353126	3	1	81	1	0	0	0	0	1	0	0	0	12781	1087	38	1	136	1	PTCHD1	23	23353126	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	334844	23353126	131917434	15032	18648											
PTCHD1	139411	broad.mit.edu	37	X	23398059	23398059	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:23398059G>A	ENST00000379361.4	+	2	1563	c.703G>A	c.(703-705)Gac>Aac	p.D235N		NM_173495.2	NP_775766.2	Q96NR3	PTHD1_HUMAN	patched domain containing 1	235					cognition|smoothened signaling pathway	integral to membrane|plasma membrane	hedgehog receptor activity			NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2)	42						CAGCTTCTGCGACACTGTCAG	0.512													101	160					0	0	1	0	0	A	23398059	G	A	23398059	3	1	81	1	0	0	0	0	1	0	0	0	12781	1058	37	1	709	1	PTCHD1	23	23398059	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	44933	23398059	131872501	15033	18649											
PTCHD1	139411	broad.mit.edu	37	X	23398314	23398314	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:23398314C>A	ENST00000379361.4	+	2	1818	c.958C>A	c.(958-960)Ctt>Att	p.L320I		NM_173495.2	NP_775766.2	Q96NR3	PTHD1_HUMAN	patched domain containing 1	320	SSD.				cognition|smoothened signaling pathway	integral to membrane|plasma membrane	hedgehog receptor activity			NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2)	42						GATCATCAATCTTACTGGTGG	0.517													13	130					4.93089e-13	6.20298e-13	1	1	0	A	23398314	C	A	23398314	3	1	81	1	0	0	0	0	1	0	0	0	12781	913	32	4	964	4	PTCHD1	23	23398314	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	255	23398314	131872246	15034	18650											
PTCHD1	139411	broad.mit.edu	37	X	23411054	23411054	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:23411054G>T	ENST00000379361.4	+	3	2279	c.1419G>T	c.(1417-1419)gaG>gaT	p.E473D		NM_173495.2	NP_775766.2	Q96NR3	PTHD1_HUMAN	patched domain containing 1	473					cognition|smoothened signaling pathway	integral to membrane|plasma membrane	hedgehog receptor activity			NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2)	42						CTGAAGGCGAGGAAGCGAACA	0.483													53	135					9.40368e-32	1.2553e-31	1	1	0	T	23411054	G	T	23411054	3	4	81	1	0	0	0	0	1	0	0	0	12781	991	35	4	1429	4	PTCHD1	23	23411054	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	12740	23411054	131859506	15035	18651											
PTCHD1	139411	broad.mit.edu	37	X	23411710	23411710	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:23411710A>G	ENST00000379361.4	+	3	2935	c.2075A>G	c.(2074-2076)tAt>tGt	p.Y692C		NM_173495.2	NP_775766.2	Q96NR3	PTHD1_HUMAN	patched domain containing 1	692					cognition|smoothened signaling pathway	integral to membrane|plasma membrane	hedgehog receptor activity			NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2)	42						ATGGATCGATATGCCTCCTCT	0.493													40	53					0	0	1	0	0	G	23411710	A	G	23411710	3	3	81	1	0	0	0	0	1	0	0	0	12781	449	16	3	2085	3	PTCHD1	23	23411710	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	656	23411710	131858850	15036	18652											
PRDX4	10549	broad.mit.edu	37	X	23685739	23685739	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:23685739C>T	ENST00000379341.4	+	1	177	c.52C>T	c.(52-54)Cga>Tga	p.R18*	PRDX4_ENST00000379331.3_Nonsense_Mutation_p.R18*|PRDX4_ENST00000495599.1_3'UTR	NM_006406.1	NP_006397.1	Q13162	PRDX4_HUMAN	peroxiredoxin 4	18					cell redox homeostasis|I-kappaB phosphorylation		thioredoxin peroxidase activity			lung(6)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	9						CGGCCGCCACCGAAGgctgct	0.687													4	4					0	0	1	0	0	T	23685739	C	T	23685739	4	4	81	1	0	0	0	0	0	1	0	0	12519	644	23	1	54	1	PRDX4	23	23685739	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	274029	23685739	131584821	15037	18653											
CXorf58	254158	broad.mit.edu	37	X	23953347	23953347	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:23953347C>A	ENST00000379211.3	+	7	1139	c.590C>A	c.(589-591)tCt>tAt	p.S197Y		NM_001169574.1|NM_152761.2	NP_001163045.1|NP_689974.2	Q96LI9	CX058_HUMAN	chromosome X open reading frame 58	197										breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(2)|prostate(1)	14						CCTGCATTTTCTGGCGGCAGA	0.423													89	113					9.79686e-34	1.31039e-33	1	1	0	A	23953347	C	A	23953347	3	1	81	1	0	0	0	0	1	0	0	0	4137	913	32	4	612	4	CXorf58	23	23953347	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	267608	23953347	131317213	15038	18654											
KLHL15	80311	broad.mit.edu	37	X	24007070	24007070	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:24007070A>G	ENST00000328046.8	-	4	1038	c.783T>C	c.(781-783)aaT>aaC	p.N261N		NM_030624.2	NP_085127.2	Q96M94	KLH15_HUMAN	kelch-like family member 15	261										autonomic_ganglia(1)|breast(1)|endometrium(8)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)	22						GCTGGTGAACATTCTGAAAGT	0.398													57	87					0	0	1	0	0	G	24007070	A	G	24007070	2	3	81	1	0	0	0	0	0	0	0	1	8414	214	8	3		3	KLHL15	23	24007070	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	53723	24007070	131263490	15039	18655											
EIF2S3	1968	broad.mit.edu	37	X	24084146	24084146	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:24084146C>A	ENST00000253039.4	+	8	1057	c.804C>A	c.(802-804)ggC>ggA	p.G268G		NM_001415.3	NP_001406.1	P41091	IF2G_HUMAN	eukaryotic translation initiation factor 2, subunit 3 gamma, 52kDa	268						cytosol	GTP binding|GTPase activity|protein binding|translation initiation factor activity			breast(1)|cervix(1)|endometrium(4)|large_intestine(1)|lung(4)|ovary(1)	12						ACAAACCTGGCTGTGAAGTTG	0.313													9	196					2.17888e-05	2.43576e-05	1	1	0	A	24084146	C	A	24084146	2	1	81	1	0	0	0	0	0	0	0	1	5037	784	28	4		4	EIF2S3	23	24084146	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	77076	24084146	131186414	15040	18656											
ZFX	7543	broad.mit.edu	37	X	24197419	24197419	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:24197419G>A	ENST00000379177.1	+	6	605	c.178G>A	c.(178-180)Gat>Aat	p.D60N	ZFX_ENST00000304543.5_Missense_Mutation_p.D60N|ZFX_ENST00000338565.3_Missense_Mutation_p.D60N|ZFX_ENST00000459724.1_Intron|ZFX_ENST00000379188.3_Missense_Mutation_p.D60N|ZFX_ENST00000539115.1_Intron|ZFX_ENST00000540034.1_Missense_Mutation_p.D99N	NM_001178085.1|NM_003410.3	NP_001171556.1|NP_003401.2	P17010	ZFX_HUMAN	zinc finger protein, X-linked	60					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|prostate(1)	24						TGATGACCCAGATTCAGTTGT	0.388													85	138					0	0	1	0	0	A	24197419	G	A	24197419	3	1	81	1	0	0	0	0	1	0	0	0	17719	942	33	2	184	2	ZFX	23	24197419	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	113273	24197419	131073141	15041	18657											
ZFX	7543	broad.mit.edu	37	X	24197584	24197584	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:24197584G>T	ENST00000379177.1	+	6	770	c.343G>T	c.(343-345)Gat>Tat	p.D115Y	ZFX_ENST00000304543.5_Missense_Mutation_p.D115Y|ZFX_ENST00000338565.3_Missense_Mutation_p.D115Y|ZFX_ENST00000459724.1_Intron|ZFX_ENST00000379188.3_Missense_Mutation_p.D115Y|ZFX_ENST00000539115.1_Intron|ZFX_ENST00000540034.1_Missense_Mutation_p.D154Y	NM_001178085.1|NM_003410.3	NP_001171556.1|NP_003401.2	P17010	ZFX_HUMAN	zinc finger protein, X-linked	115					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|prostate(1)	24						CACAGTCCCAGATGATGTTTT	0.443													8	304					5.68852e-11	7.00816e-11	1	1	0	T	24197584	G	T	24197584	3	4	81	1	0	0	0	0	1	0	0	0	17719	942	33	4	349	4	ZFX	23	24197584	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	165	24197584	131072976	15042	18658											
ZFX	7543	broad.mit.edu	37	X	24227140	24227140	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:24227140C>T	ENST00000379177.1	+	10	1644	c.1217C>T	c.(1216-1218)tCc>tTc	p.S406F	ZFX_ENST00000304543.5_Missense_Mutation_p.S406F|ZFX_ENST00000338565.3_Missense_Mutation_p.S356F|ZFX_ENST00000379188.3_Missense_Mutation_p.S406F|ZFX_ENST00000539115.1_Missense_Mutation_p.S177F|ZFX_ENST00000540034.1_Missense_Mutation_p.S445F	NM_001178085.1|NM_003410.3	NP_001171556.1|NP_003401.2	P17010	ZFX_HUMAN	zinc finger protein, X-linked	406					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|prostate(1)	24						AGACCTGATTCCAGGCAGTAC	0.532													28	36					0	0	1	0	0	T	24227140	C	T	24227140	3	4	81	1	0	0	0	0	1	0	0	0	17719	855	30	2	1239	2	ZFX	23	24227140	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	29556	24227140	131043420	15043	18659											
ZFX	7543	broad.mit.edu	37	X	24228932	24228932	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:24228932G>T	ENST00000379177.1	+	11	2284	c.1857G>T	c.(1855-1857)gaG>gaT	p.E619D	ZFX_ENST00000304543.5_Missense_Mutation_p.E619D|ZFX_ENST00000338565.3_Missense_Mutation_p.E569D|ZFX_ENST00000379188.3_Missense_Mutation_p.E619D|ZFX_ENST00000539115.1_Missense_Mutation_p.E390D|ZFX_ENST00000540034.1_Missense_Mutation_p.E658D	NM_001178085.1|NM_003410.3	NP_001171556.1|NP_003401.2	P17010	ZFX_HUMAN	zinc finger protein, X-linked	619					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|prostate(1)	24						ATACCAAAGAGGTGCAGCAAC	0.408													40	68					2.2871e-25	3.0263e-25	1	1	0	T	24228932	G	T	24228932	3	4	81	1	0	0	0	0	1	0	0	0	17719	991	35	4	1942	4	ZFX	23	24228932	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1792	24228932	131041628	15044	18660											
PDK3	5165	broad.mit.edu	37	X	24512864	24512864	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:24512864G>T	ENST00000441463.2	+	2	112	c.112G>T	c.(112-114)Gat>Tat	p.D38Y	PDK3_ENST00000493226.1_3'UTR|PDK3_ENST00000379162.4_Missense_Mutation_p.D38Y	NM_001142386.2	NP_001135858.1	Q15120	PDK3_HUMAN	pyruvate dehydrogenase kinase, isozyme 3	38					glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	ATP binding|protein binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity			NS(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						AATAGGGAGAGATAATGCATG	0.388													5	45					0.00116845	0.00124301	1	1	0	T	24512864	G	T	24512864	3	4	81	1	0	0	0	0	1	0	0	0	11724	942	33	4	118	4	PDK3	23	24512864	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	283932	24512864	130757696	15045	18661											
PDK3	5165	broad.mit.edu	37	X	24552111	24552111	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:24552111G>T	ENST00000441463.2	+	11	1143	c.1143G>T	c.(1141-1143)aaG>aaT	p.K381N	PDK3_ENST00000379162.4_Missense_Mutation_p.K381N	NM_001142386.2	NP_001135858.1	Q15120	PDK3_HUMAN	pyruvate dehydrogenase kinase, isozyme 3	381					glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	ATP binding|protein binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity			NS(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						GCCATTACAAGACCACGCCTG	0.418													13	21					2.68362e-12	3.3506e-12	1	1	0	T	24552111	G	T	24552111	3	4	81	1	0	0	0	0	1	0	0	0	11724	933	33	4	1185	4	PDK3	23	24552111	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	39247	24552111	130718449	15046	18662											
PCYT1B	9468	broad.mit.edu	37	X	24690692	24690692	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:24690692G>A	ENST00000379145.1	-	1	102	c.58C>T	c.(58-60)Cgc>Tgc	p.R20C		NM_001163264.1	NP_001156736.1	Q9Y5K3	PCY1B_HUMAN	phosphate cytidylyltransferase 1, choline, beta	38						endoplasmic reticulum	choline-phosphate cytidylyltransferase activity			breast(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	17					Choline(DB00122)	ATTACCTTGCGCCACAATTGG	0.413													34	63					0	0	1	0	0	A	24690692	G	A	24690692	3	1	81	1	0	0	0	0	1	0	0	0	11658	1087	38	1	1187	1	PCYT1B	23	24690692	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	138581	24690692	130579868	15047	18663											
POLA1	5422	broad.mit.edu	37	X	24859935	24859935	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:24859935C>A	ENST00000379068.3	+	33	3946	c.3903C>A	c.(3901-3903)gtC>gtA	p.V1301V	POLA1_ENST00000379059.3_Silent_p.V1295V			P09884	DPOLA_HUMAN	polymerase (DNA directed), alpha 1, catalytic subunit	1295					cell proliferation|DNA replication checkpoint|DNA replication, synthesis of RNA primer|DNA-dependent DNA replication initiation|double-strand break repair via nonhomologous end joining|interspecies interaction between organisms|lagging strand elongation|leading strand elongation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|cytoplasm|nuclear envelope|nuclear matrix|nucleolus|nucleoplasm	chromatin binding|DNA-directed DNA polymerase activity|metal ion binding|nucleoside binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|skin(2)	11					Clofarabine(DB00631)|Fludarabine(DB01073)	ATGATAATGTCTTTGATGGTT	0.423													13	96					0.0135373	0.014045	1	1	0	A	24859935	C	A	24859935	2	1	81	1	0	0	0	0	0	0	0	1	12235	900	32	4		4	POLA1	23	24859935	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	169243	24859935	130410625	15048	18664											
MAGEB18	286514	broad.mit.edu	37	X	26158034	26158034	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:26158034A>G	ENST00000325250.1	+	2	1119	c.932A>G	c.(931-933)gAa>gGa	p.E311G		NM_173699.3	NP_775970	Q96M61	MAGBI_HUMAN	melanoma antigen family B, 18	311							protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(17)|skin(2)|stomach(1)|urinary_tract(2)	33						AGGGATGAGGAACAGAGAACC	0.512													4	13					0	0	1	0	0	G	26158034	A	G	26158034	3	3	81	1	0	0	0	0	1	0	0	0	9225	246	9	3	934	3	MAGEB18	23	26158034	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	1298099	26158034	129112526	15049	18665											
MAGEB6	158809	broad.mit.edu	37	X	26213143	26213143	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:26213143G>A	ENST00000379034.1	+	2	1329	c.1180G>A	c.(1180-1182)Gct>Act	p.A394T		NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	394	MAGE.									breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						GTATGAAGACGCTTTGATAGA	0.507													56	92					0	0	1	0	0	A	26213143	G	A	26213143	3	1	81	1	0	0	0	0	1	0	0	0	9229	1087	38	1	1182	1	MAGEB6	23	26213143	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	55109	26213143	129057417	15050	18666											
DCAF8L1	139425	broad.mit.edu	37	X	27997794	27997794	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:27997794C>T	ENST00000441525.1	-	1	1772	c.1658G>A	c.(1657-1659)cGt>cAt	p.R553H		NM_001017930.1	NP_001017930.1	A6NGE4	DC8L1_HUMAN	DDB1 and CUL4 associated factor 8-like 1	553										NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						TAACAGGTGACGCACGAAGAA	0.478													29	62					0	0	1	0	0	T	27997794	C	T	27997794	3	4	81	1	0	0	0	0	1	0	0	0	4301	536	19	1	148	1	DCAF8L1	23	27997794	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1784651	27997794	127272766	15051	18667											
DCAF8L1	139425	broad.mit.edu	37	X	27998291	27998291	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:27998291A>G	ENST00000441525.1	-	1	1275	c.1161T>C	c.(1159-1161)tgT>tgC	p.C387C		NM_001017930.1	NP_001017930.1	A6NGE4	DC8L1_HUMAN	DDB1 and CUL4 associated factor 8-like 1	387										NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						TTGGGAAATCACAATAAACCA	0.413													8	76					0	0	1	0	0	G	27998291	A	G	27998291	2	3	81	1	0	0	0	0	0	0	0	1	4301	157	6	3		3	DCAF8L1	23	27998291	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	497	27998291	127272269	15052	18668											
DCAF8L1	139425	broad.mit.edu	37	X	27998474	27998474	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:27998474C>T	ENST00000441525.1	-	1	1092	c.978G>A	c.(976-978)gtG>gtA	p.V326V		NM_001017930.1	NP_001017930.1	A6NGE4	DC8L1_HUMAN	DDB1 and CUL4 associated factor 8-like 1	326										NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						CTCTTGTTACCACAACTTTTG	0.433													39	41					0	0	1	0	0	T	27998474	C	T	27998474	2	4	81	1	0	0	0	0	0	0	0	1	4301	581	21	2		2	DCAF8L1	23	27998474	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	183	27998474	127272086	15053	18669											
DCAF8L1	139425	broad.mit.edu	37	X	27999353	27999353	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:27999353C>T	ENST00000441525.1	-	1	213	c.99G>A	c.(97-99)acG>acA	p.T33T		NM_001017930.1	NP_001017930.1	A6NGE4	DC8L1_HUMAN	DDB1 and CUL4 associated factor 8-like 1	33										NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						AGGAGGCCGCCGTCACCGCTG	0.567													13	22					0	0	1	0	0	T	27999353	C	T	27999353	2	4	81	1	0	0	0	0	0	0	0	1	4301	639	23	1		1	DCAF8L1	23	27999353	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	879	27999353	127271207	15054	18670											
MAGEB2	4113	broad.mit.edu	37	X	30237282	30237282	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:30237282C>A	ENST00000378988.4	+	2	686	c.585C>A	c.(583-585)tcC>tcA	p.S195S		NM_002364.4	NP_002355.2	O15479	MAGB2_HUMAN	melanoma antigen family B, 2	195	MAGE.						protein binding			breast(1)|large_intestine(3)|lung(17)|ovary(1)|skin(1)	23						TGCTCAGTTCCTGGGACTTTC	0.483													8	17					0.000442599	0.000477972	1	1	0	A	30237282	C	A	30237282	2	1	81	1	0	0	0	0	0	0	0	1	9226	668	24	4		4	MAGEB2	23	30237282	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2237929	30237282	125033278	15055	18671											
MAGEB3	4114	broad.mit.edu	37	X	30254597	30254597	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:30254597C>T	ENST00000361644.2	+	5	1293	c.556C>T	c.(556-558)Ctc>Ttc	p.L186F		NM_002365.4	NP_002356.2	O15480	MAGB3_HUMAN	melanoma antigen family B, 3	186	MAGE.									NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	25						CAAAATGGATCTCCCCAACAA	0.468													28	41					0	0	1	0	0	T	30254597	C	T	30254597	3	4	81	1	0	0	0	0	1	0	0	0	9227	913	32	2	558	2	MAGEB3	23	30254597	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	17315	30254597	125015963	15056	18672											
MAGEB3	4114	broad.mit.edu	37	X	30255066	30255066	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:30255066G>A	ENST00000361644.2	+	5	1762	c.1025G>A	c.(1024-1026)aGc>aAc	p.S342N		NM_002365.4	NP_002356.2	O15480	MAGB3_HUMAN	melanoma antigen family B, 3	342										NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	25						AAGGCTAGCAGCTCTTCCCAC	0.498													7	14					0	0	1	0	0	A	30255066	G	A	30255066	3	1	81	1	0	0	0	0	1	0	0	0	9227	971	34	2	1027	2	MAGEB3	23	30255066	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	469	30255066	125015494	15057	18673											
NR0B1	190	broad.mit.edu	37	X	30327013	30327013	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:30327013C>A	ENST00000378970.4	-	1	702	c.468G>T	c.(466-468)acG>acT	p.T156T	NR0B1_ENST00000453287.1_Silent_p.T156T	NM_000475.4	NP_000466.2	P51843	NR0B1_HUMAN	nuclear receptor subfamily 0, group B, member 1	156	4 X 67 AA tandem repeats.				adrenal gland development|hypothalamus development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of steroid hormone receptor signaling pathway|pituitary gland development|protein localization|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|steroid biosynthetic process	cytoplasm|membrane fraction|nucleoplasm|nucleus|polysomal ribosome	AF-2 domain binding|DNA hairpin binding|ligand-regulated transcription factor activity|protein domain specific binding|protein homodimerization activity|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|steroid hormone receptor binding|transcription corepressor activity|transcription factor binding			central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(2)	24					Dexamethasone(DB01234)|Tretinoin(DB00755)	GAGCCACGTGCGTTTGCTTTG	0.677											OREG0019719	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	17					1.08611e-07	1.27405e-07	1	1	0	A	30327013	C	A	30327013	2	1	81	1	0	0	0	0	0	0	0	1	10661	755	27	5		5	NR0B1	23	30327013	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	71947	30327013	124943547	15058	18674											
CXorf21	80231	broad.mit.edu	37	X	30577669	30577669	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:30577669T>A	ENST00000378962.3	-	3	1126	c.804A>T	c.(802-804)agA>agT	p.R268S		NM_025159.2	NP_079435.1	Q9HAI6	CX021_HUMAN	chromosome X open reading frame 21	268										kidney(1)|large_intestine(3)|lung(13)|ovary(1)|stomach(1)|urinary_tract(1)	20						AGACTATATCTCTGGCTTTTG	0.403													10	92					0	0	1	0	0	A	30577669	T	A	30577669	3	1	81	1	0	0	0	0	1	0	0	0	4124	1548	54	5	105	5	CXorf21	23	30577669	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	250656	30577669	124692891	15059	18675											
TAB3	257397	broad.mit.edu	37	X	30864137	30864137	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:30864137C>A	ENST00000378928.1	-	3	255	c.209G>T	c.(208-210)aGa>aTa	p.R70I	TAB3_ENST00000378933.1_Intron|TAB3_ENST00000378930.3_Intron|TAB3_ENST00000378932.2_Intron|TAB3_ENST00000288422.2_Intron			Q8N5C8	TAB3_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 3	0					activation of MAPK activity|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|skin(1)	27						catctctaatctggtgagttg	0.358													8	10					0.361761	0.363003	1	1	0	A	30864137	C	A	30864137	3	1	81	1	0	0	0	0	1	0	0	0	15554	928	32	4		4	TAB3	23	30864137	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	286468	30864137	124406423	15060	18676											
TAB3	257397	broad.mit.edu	37	X	30872594	30872594	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:30872594T>C	ENST00000378933.1	-	3	1365	c.1188A>G	c.(1186-1188)caA>caG	p.Q396Q	TAB3-AS2_ENST00000445240.1_RNA|TAB3_ENST00000378930.3_Silent_p.Q396Q|TAB3_ENST00000378932.2_Silent_p.Q396Q|TAB3_ENST00000288422.2_Silent_p.Q396Q	NM_152787.3	NP_690000.2	Q8N5C8	TAB3_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 3	396	Pro-rich.				activation of MAPK activity|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|skin(1)	27						ACAGTGAGTGTTGATTCCATG	0.413													41	92					0	0	1	0	0	C	30872594	T	C	30872594	2	2	81	1	0	0	0	0	0	0	0	1	15554	1722	60	3		3	TAB3	23	30872594	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	8457	30872594	124397966	15061	18677											
FTHL17	53940	broad.mit.edu	37	X	31089585	31089585	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:31089585C>T	ENST00000359202.3	-	1	585	c.486G>A	c.(484-486)ccG>ccA	p.P162P		NM_031894.2	NP_114100.1	Q9BXU8	FHL17_HUMAN	ferritin, heavy polypeptide-like 17	162					cellular iron ion homeostasis|iron ion transport		ferric iron binding|oxidoreductase activity			endometrium(2)|large_intestine(2)|liver(1)|lung(13)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	23						GGCCGGCTTCCGGGGAACAAA	0.612													15	25					0	0	1	0	0	T	31089585	C	T	31089585	2	4	81	1	0	0	0	0	0	0	0	1	6118	639	23	1		1	FTHL17	23	31089585	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	216991	31089585	124180975	15062	18678											
DMD	1756	broad.mit.edu	37	X	31645873	31645873	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:31645873C>T	ENST00000357033.4	-	55	8340	c.8134G>A	c.(8134-8136)Gcc>Acc	p.A2712T	DMD_ENST00000378677.2_Missense_Mutation_p.A2708T|DMD_ENST00000541735.1_Missense_Mutation_p.A252T|DMD_ENST00000378707.3_Missense_Mutation_p.A252T|DMD_ENST00000343523.2_Missense_Mutation_p.A252T|DMD_ENST00000474231.1_Missense_Mutation_p.A252T|DMD_ENST00000359836.1_Missense_Mutation_p.A252T	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	2712					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				AGGACATTGGCAGTTGTTTCA	0.473													10	28					0	0	1	0	0	T	31645873	C	T	31645873	3	4	81	1	0	0	0	0	1	0	0	0	4608	710	25	2	3171	2	DMD	23	31645873	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	556288	31645873	123624687	15063	18679											
DMD	1756	broad.mit.edu	37	X	31986618	31986618	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:31986618C>T	ENST00000357033.4	-	45	6658	c.6452G>A	c.(6451-6453)gGc>gAc	p.G2151D	DMD_ENST00000378677.2_Missense_Mutation_p.G2147D|DMD_ENST00000541735.1_5'UTR|DMD_ENST00000378707.3_5'UTR|DMD_ENST00000343523.2_5'UTR|DMD_ENST00000474231.1_5'UTR|DMD_ENST00000359836.1_5'UTR	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	2151					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				CTGCCCAATGCCATCCTGGAG	0.398													6	38					0	0	1	0	0	T	31986618	C	T	31986618	3	4	81	1	0	0	0	0	1	0	0	0	4608	739	26	2	4893	2	DMD	23	31986618	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	340745	31986618	123283942	15064	18680											
DMD	1756	broad.mit.edu	37	X	32382809	32382809	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:32382809C>A	ENST00000357033.4	-	36	5250	c.5044G>T	c.(5044-5046)Gaa>Taa	p.E1682*	DMD_ENST00000378677.2_Nonsense_Mutation_p.E1678*	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	1682	Interaction with SYNM (By similarity).				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TCAAAAGTTTCCATGTGTTTC	0.348													35	61					3.11337e-16	3.99083e-16	1	1	0	A	32382809	C	A	32382809	4	1	81	1	0	0	0	0	0	1	0	0	4608	864	30	5	6337	5	DMD	23	32382809	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	396191	32382809	122887751	15065	18681											
DMD	1756	broad.mit.edu	37	X	32429869	32429869	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:32429869C>A	ENST00000357033.4	-	30	4439	c.4233G>T	c.(4231-4233)caG>caT	p.Q1411H	DMD_ENST00000378677.2_Splice_Site_p.Q1407H	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	1411					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				ATGTACTTGCCTGGGCTTCCT	0.398													4	59					0.000602214	0.000646338	1	1	0	A	32429869	C	A	32429869	5	1	81	1	0	0	0	0	0	0	1	0	4608	695	24	4	7172	4	DMD	23	32429869	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	47060	32429869	122840691	15066	18682											
DMD	1756	broad.mit.edu	37	X	32456421	32456421	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:32456421C>A	ENST00000357033.4	-	29	4214	c.4008G>T	c.(4006-4008)atG>atT	p.M1336I	DMD_ENST00000378677.2_Missense_Mutation_p.M1332I	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	1336					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TTAGCTCATCCATGACTCCGC	0.378													5	88					1.23904e-05	1.39156e-05	1	1	0	A	32456421	C	A	32456421	3	1	81	1	0	0	0	0	1	0	0	0	4608	594	21	5	7496	5	DMD	23	32456421	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	26552	32456421	122814139	15067	18683											
FAM47A	158724	broad.mit.edu	37	X	34149819	34149819	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:34149819C>T	ENST00000346193.3	-	1	628	c.577G>A	c.(577-579)Gag>Aag	p.E193K		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	193	Pro-rich.									NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						ACCGGAGTCTCGGGAGGCTTC	0.612													8	41					0	0	1	0	0	T	34149819	C	T	34149819	3	4	81	1	0	0	0	0	1	0	0	0	5605	893	31	1	1802	1	FAM47A	23	34149819	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1693398	34149819	121120741	15068	18684											
TMEM47	83604	broad.mit.edu	37	X	34657422	34657422	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:34657422G>T	ENST00000275954.3	-	2	567	c.309C>A	c.(307-309)atC>atA	p.I103I		NM_031442.3	NP_113630.1	Q9BQJ4	TMM47_HUMAN	transmembrane protein 47	103						integral to membrane				breast(1)|kidney(1)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						ATCCCACGCAGATAGAAATCA	0.428													3	6					0.00024832	0.000269806	1	1	0	T	34657422	G	T	34657422	2	4	81	1	0	0	0	0	0	0	0	1	16231	932	33	4		4	TMEM47	23	34657422	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	507603	34657422	120613138	15069	18685											
FAM47C	442444	broad.mit.edu	37	X	37027307	37027307	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:37027307C>A	ENST00000358047.3	+	1	876	c.824C>A	c.(823-825)cCt>cAt	p.P275H		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	275				P -> S (in Ref. 2; BAC86381).						breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						CTGGAGCCTCCTGGGACTGGA	0.612													19	39					2.4624e-09	2.97042e-09	1	1	0	A	37027307	C	A	37027307	3	1	81	1	0	0	0	0	1	0	0	0	5607	681	24	4	826	4	FAM47C	23	37027307	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2369885	37027307	118243253	15070	18686											
LANCL3	347404	broad.mit.edu	37	X	37515055	37515055	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:37515055G>A	ENST00000378621.3	+	2	990	c.688G>A	c.(688-690)Gaa>Aaa	p.E230K	LANCL3_ENST00000378619.3_Missense_Mutation_p.E230K|TM4SF2_ENST00000465127.1_Intron	NM_198511.2	NP_940913.1	Q6ZV70	LANC3_HUMAN	LanC lantibiotic synthetase component C-like 3 (bacterial)	230							catalytic activity			lung(4)|pancreas(1)	5						CTATGGAACCGAATACTTGGG	0.418													22	35					0	0	1	0	0	A	37515055	G	A	37515055	3	1	81	1	0	0	0	0	1	0	0	0	8661	1059	37	1	694	1	LANCL3	23	37515055	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	487748	37515055	117755505	15071	18687											
CYBB	1536	broad.mit.edu	37	X	37642787	37642787	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:37642787C>T	ENST00000378588.4	+	3	253	c.186C>T	c.(184-186)ttC>ttT	p.F62F	CYBB_ENST00000545017.1_Silent_p.F30F|CYBB_ENST00000536160.1_5'UTR|TM4SF2_ENST00000465127.1_Intron	NM_000397.3	NP_000388.2	P04839	CY24B_HUMAN	cytochrome b-245, beta polypeptide	62	Ferric oxidoreductase.				electron transport chain|inflammatory response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex	electron carrier activity|flavin adenine dinucleotide binding|heme binding|protein heterodimerization activity|superoxide-generating NADPH oxidase activity|voltage-gated ion channel activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|prostate(2)|skin(2)	32						GCCTGAATTTCAACTGCATGC	0.502													6	48					0	0	1	0	0	T	37642787	C	T	37642787	2	4	81	1	0	0	0	0	0	0	0	1	4156	825	29	2		2	CYBB	23	37642787	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	127732	37642787	117627773	15072	18688											
BCOR	54880	broad.mit.edu	37	X	39922014	39922014	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:39922014C>A	ENST00000342274.4	-	9	4418	c.4056G>T	c.(4054-4056)gaG>gaT	p.E1352D	BCOR_ENST00000378455.4_Missense_Mutation_p.E1334D|BCOR_ENST00000378444.4_Missense_Mutation_p.E1386D|BCOR_ENST00000397354.3_Missense_Mutation_p.E1352D|BCOR_ENST00000378463.1_Missense_Mutation_p.E229D	NM_001123383.1	NP_001116855.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	1386					heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						CATCGGCATTCTCCACGTAGT	0.582			"F, N, S, T"	RARA	"retinoblastoma, AML, APL(translocation)"		oculo-facio-cardio-dental genetic						5	21					5.9392e-07	6.87481e-07	1	1	0	A	39922014	C	A	39922014	3	1	81	1	0	0	0	0	1	0	0	0	1384	912	32	4	1137	4	BCOR	23	39922014	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2279227	39922014	115348546	15073	18689											
BCOR	54880	broad.mit.edu	37	X	39933021	39933021	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:39933021C>T	ENST00000342274.4	-	4	1940	c.1578G>A	c.(1576-1578)tcG>tcA	p.S526S	BCOR_ENST00000378455.4_Silent_p.S526S|BCOR_ENST00000378444.4_Silent_p.S526S|BCOR_ENST00000397354.3_Silent_p.S526S	NM_001123383.1	NP_001116855.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	526					heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						TGTTTTTCAGCGACATGCTTT	0.532			"F, N, S, T"	RARA	"retinoblastoma, AML, APL(translocation)"		oculo-facio-cardio-dental genetic						22	26					0	0	1	0	0	T	39933021	C	T	39933021	2	4	81	1	0	0	0	0	0	0	0	1	1384	755	27	1		1	BCOR	23	39933021	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	11007	39933021	115337539	15074	18690											
ATP6AP2	10159	broad.mit.edu	37	X	40458973	40458973	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:40458973C>T	ENST00000378438.4	+	7	876	c.718C>T	c.(718-720)Ctt>Ttt	p.L240F	ATP6AP2_ENST00000544975.1_Missense_Mutation_p.L164F|ATP6AP2_ENST00000486558.1_3'UTR|ATP6AP2_ENST00000535539.1_Missense_Mutation_p.L208F|ATP6AP2_ENST00000535777.1_Missense_Mutation_p.L162F	NM_005765.2	NP_005756.2	O75787	RENR_HUMAN	ATPase, H+ transporting, lysosomal accessory protein 2	240					angiotensin maturation|positive regulation of transforming growth factor-beta1 production|regulation of MAPKKK cascade	external side of plasma membrane|integral to membrane	protein binding|receptor activity			endometrium(1)|large_intestine(1)|lung(2)	4						TTCTAAGATCCTTGTTGACGC	0.398													31	55					0	0	1	0	0	T	40458973	C	T	40458973	3	4	81	1	0	0	0	0	1	0	0	0	1165	681	24	2	744	2	ATP6AP2	23	40458973	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	525952	40458973	114811587	15075	18691											
USP9X	8239	broad.mit.edu	37	X	41025363	41025363	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:41025363C>T	ENST00000324545.8	+	16	2857	c.2224C>T	c.(2224-2226)Cga>Tga	p.R742*	USP9X_ENST00000378308.2_Nonsense_Mutation_p.R742*	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked						BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						GTGTTTTGAGCGATTCTTCAA	0.363													38	73					0	0	1	0	0	T	41025363	C	T	41025363	4	4	81	1	0	0	0	0	0	1	0	0	17150	760	27	1	2282	1	USP9X	23	41025363	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	566390	41025363	114245197	15076	18692											
USP9X	8239	broad.mit.edu	37	X	41027339	41027339	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:41027339G>A	ENST00000324545.8	+	18	3137	c.2504G>A	c.(2503-2505)gGt>gAt	p.G835D	USP9X_ENST00000378308.2_Missense_Mutation_p.G835D	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked						BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						GTTTTGGATGGTGACAAAGAC	0.373													45	89					0	0	1	0	0	A	41027339	G	A	41027339	3	1	81	1	0	0	0	0	1	0	0	0	17150	1261	44	2	2570	2	USP9X	23	41027339	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1976	41027339	114243221	15077	18693											
USP9X	8239	broad.mit.edu	37	X	41029755	41029755	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:41029755C>A	ENST00000324545.8	+	20	3543	c.2910C>A	c.(2908-2910)tcC>tcA	p.S970S	USP9X_ENST00000378308.2_Silent_p.S970S	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked						BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						AGATAAGTTCCAATATGCCTT	0.358													7	69					2.17888e-05	2.43576e-05	1	1	0	A	41029755	C	A	41029755	2	1	81	1	0	0	0	0	0	0	0	1	17150	581	21	5		5	USP9X	23	41029755	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2416	41029755	114240805	15078	18694											
USP9X	8239	broad.mit.edu	37	X	41048650	41048650	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:41048650C>A	ENST00000324545.8	+	26	4532	c.3899C>A	c.(3898-3900)cCa>cAa	p.P1300Q	USP9X_ENST00000378308.2_Missense_Mutation_p.P1300Q	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked						BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						GCCTTGATTCCAACAGCCTTA	0.393													9	78					0.000274275	0.000297259	1	1	0	A	41048650	C	A	41048650	3	1	81	1	0	0	0	0	1	0	0	0	17150	594	21	5	3997	5	USP9X	23	41048650	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	18895	41048650	114221910	15079	18695											
USP9X	8239	broad.mit.edu	37	X	41048719	41048719	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:41048719G>A	ENST00000324545.8	+	26	4601	c.3968G>A	c.(3967-3969)tGt>tAt	p.C1323Y	USP9X_ENST00000378308.2_Missense_Mutation_p.C1323Y	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked						BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						CTATTGCACTGTCACAGCAAG	0.338													22	40					0	0	1	0	0	A	41048719	G	A	41048719	3	1	81	1	0	0	0	0	1	0	0	0	17150	1377	48	2	4066	2	USP9X	23	41048719	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	69	41048719	114221841	15080	18696											
USP9X	8239	broad.mit.edu	37	X	41073892	41073892	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:41073892T>C	ENST00000324545.8	+	34	5894	c.5261T>C	c.(5260-5262)tTg>tCg	p.L1754S	USP9X_ENST00000378308.2_Missense_Mutation_p.L1754S	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked						BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						CTTGATTCTTTGGAACAGTAT	0.323													8	79					0	0	1	0	0	C	41073892	T	C	41073892	3	2	81	1	0	0	0	0	1	0	0	0	17150	1821	63	3	5391	3	USP9X	23	41073892	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	25173	41073892	114196668	15081	18697											
USP9X	8239	broad.mit.edu	37	X	41075235	41075235	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:41075235A>T	ENST00000324545.8	+	35	6048	c.5415A>T	c.(5413-5415)gaA>gaT	p.E1805D	USP9X_ENST00000378308.2_Missense_Mutation_p.E1805D	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked						BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						ATGACTGGGAAAGAGAATGTG	0.393													5	88					0	0	1	0	0	T	41075235	A	T	41075235	3	4	81	1	0	0	0	0	1	0	0	0	17150	11	1	5	5549	5	USP9X	23	41075235	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	1343	41075235	114195325	15082	18698											
USP9X	8239	broad.mit.edu	37	X	41091710	41091710	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:41091710G>A	ENST00000324545.8	+	45	8279	c.7646G>A	c.(7645-7647)gGc>gAc	p.G2549D	USP9X_ENST00000378308.2_Missense_Mutation_p.G2533D	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked						BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						CAGAGAACTGGCCAACGAGCA	0.433													18	32					0	0	1	0	0	A	41091710	G	A	41091710	3	1	81	1	0	0	0	0	1	0	0	0	17150	1203	42	2	7820	2	USP9X	23	41091710	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	16475	41091710	114178850	15083	18699											
NYX	60506	broad.mit.edu	37	X	41333679	41333679	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:41333679G>T	ENST00000342595.2	+	2	1429	c.973G>T	c.(973-975)Ggc>Tgc	p.G325C	NYX_ENST00000378220.1_Missense_Mutation_p.G325C	NM_022567.2	NP_072089.1	Q9GZU5	NYX_HUMAN	nyctalopin	325					response to stimulus|visual perception	intracellular|proteinaceous extracellular matrix		p.G325C(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(11)|upper_aerodigestive_tract(1)	17						CTTCCAGCCCGGCTTCTTCCT	0.677													4	27					0.00024832	0.000269806	1	1	0	T	41333679	G	T	41333679	3	4	81	1	0	0	0	0	1	0	0	0	10845	1116	39	5	979	5	NYX	23	41333679	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	241969	41333679	113936881	15084	18700											
GPR34	2857	broad.mit.edu	37	X	41554926	41554926	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:41554926A>G	ENST00000378142.4	+	3	324	c.40A>G	c.(40-42)Agc>Ggc	p.S14G	CASK_ENST00000378163.1_Intron|CASK_ENST00000361962.4_Intron|CASK_ENST00000318588.9_Intron|CASK_ENST00000378166.4_Intron|CASK_ENST00000442742.2_Intron|CASK_ENST00000421587.2_Intron|CASK_ENST00000378158.1_Intron|CASK_ENST00000378154.1_Intron|GPR34_ENST00000378138.5_Missense_Mutation_p.S14G	NM_001097579.1|NM_005300.3	NP_001091048.1|NP_005291.1	Q9UPC5	GPR34_HUMAN	G protein-coupled receptor 34	14						integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			breast(1)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	14						AACTTCAGTCAGCAGCTGGCC	0.428													6	86					0	0	1	0	0	G	41554926	A	G	41554926	3	3	81	1	0	0	0	0	1	0	0	0	6729	188	7	3	42	3	GPR34	23	41554926	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	221247	41554926	113715634	15085	18701											
MAOA	4128	broad.mit.edu	37	X	43542816	43542816	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:43542816A>C	ENST00000338702.3	+	2	252	c.129A>C	c.(127-129)gaA>gaC	p.E43D	MAOA_ENST00000542639.1_5'UTR|MAOA_ENST00000497485.1_3'UTR	NM_000240.3	NP_000231.1	P21397	AOFA_HUMAN	monoamine oxidase A	43					behavior|neurotransmitter biosynthetic process|neurotransmitter catabolic process|neurotransmitter secretion|xenobiotic metabolic process	integral to membrane|mitochondrial outer membrane	primary amine oxidase activity|protein binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	18					Almotriptan(DB00918)|Carbidopa(DB00190)|Clonazepam(DB01068)|Dopamine(DB00988)|Fluvoxamine(DB00176)|Ginkgo biloba(DB01381)|Imipramine(DB00458)|Isocarboxazid(DB01247)|Levodopa(DB01235)|Linezolid(DB00601)|Lorazepam(DB00186)|Moclobemide(DB01171)|Nicotine(DB00184)|Norepinephrine(DB00368)|Phenelzine(DB00780)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Pseudoephedrine(DB00852)|Rasagiline(DB01367)|Riboflavin(DB00140)|Rizatriptan(DB00953)|Selegiline(DB01037)|Sumatriptan(DB00669)|Testosterone(DB00624)|Tranylcypromine(DB00752)|Zolmitriptan(DB00315)	TGGTTTTAGAAGCTCGGGACA	0.368													5	103					0	0	1	0	0	C	43542816	A	C	43542816	3	2	81	1	0	0	0	0	1	0	0	0	9275	69	3	5	135	5	MAOA	23	43542816	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	1987890	43542816	111727744	15086	18702											
EFHC2	80258	broad.mit.edu	37	X	44091870	44091870	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:44091870C>A	ENST00000420999.1	-	10	1560	c.1477G>T	c.(1477-1479)Gaa>Taa	p.E493*		NM_025184.3	NP_079460.2	Q5JST6	EFHC2_HUMAN	EF-hand domain (C-terminal) containing 2	493	DM10 3.						calcium ion binding			NS(1)|breast(7)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	29						TTAAAGACTTCTTGTCCAGGC	0.383													6	8					0.00198382	0.00209725	1	1	0	A	44091870	C	A	44091870	4	1	81	1	0	0	0	0	0	1	0	0	4973	922	32	4	796	4	EFHC2	23	44091870	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	549054	44091870	111178690	15087	18703											
KDM6A	7403	broad.mit.edu	37	X	44919321	44919321	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:44919321C>T	ENST00000377967.4	+	13	1290	c.1249C>T	c.(1249-1251)Cct>Tct	p.P417S	KDM6A_ENST00000543216.1_Intron|KDM6A_ENST00000536777.1_Intron|KDM6A_ENST00000382899.4_Intron	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	417					histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.0?(6)|p.0(2)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						TAAATTACTTCCTAGTATTGA	0.433			"D, N, F, S"		"renal, oesophageal SCC, MM"								5	17					0	0	1	0	0	T	44919321	C	T	44919321	3	4	81	1	0	0	0	0	1	0	0	0	8180	855	30	2	1299	2	KDM6A	23	44919321	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	827451	44919321	110351239	15088	18704											
KDM6A	7403	broad.mit.edu	37	X	44920633	44920633	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:44920633A>G	ENST00000377967.4	+	14	1435	c.1394A>G	c.(1393-1395)cAt>cGt	p.H465R	KDM6A_ENST00000543216.1_Missense_Mutation_p.H420R|KDM6A_ENST00000536777.1_Missense_Mutation_p.H420R|KDM6A_ENST00000382899.4_Missense_Mutation_p.H472R	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	465					histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.0?(6)|p.0(2)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						CAACAAGCTCATTCATGGTGT	0.328			"D, N, F, S"		"renal, oesophageal SCC, MM"								4	33					0	0	1	0	0	G	44920633	A	G	44920633	3	3	81	1	0	0	0	0	1	0	0	0	8180	217	8	3	1448	3	KDM6A	23	44920633	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	1312	44920633	110349927	15089	18705											
ZNF674	641339	broad.mit.edu	37	X	46360572	46360572	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:46360572C>A	ENST00000523374.1	-	6	662	c.452G>T	c.(451-453)aGg>aTg	p.R151M	ZNF674_ENST00000414387.2_Missense_Mutation_p.R145M	NM_001039891.2|NM_001146291.1|NM_001190417.1	NP_001034980.1|NP_001139763.1|NP_001177346.1	Q2M3X9	ZN674_HUMAN	zinc finger protein 674	151					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)	2						TTTTGAACACCTTTCCCATGA	0.308													3	31					0.115264	0.117126	1	1	0	A	46360572	C	A	46360572	3	1	81	1	0	0	0	0	1	0	0	0	18138	681	24	4	1297	4	ZNF674	23	46360572	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1439939	46360572	108909988	15090	18706											
SLC9A7	84679	broad.mit.edu	37	X	46472781	46472781	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:46472781C>T	ENST00000328306.4	-	16	1894	c.1869G>A	c.(1867-1869)acG>acA	p.T623T	SLC9A7_ENST00000464933.1_5'UTR	NM_001257291.1|NM_032591.2	NP_001244220.1|NP_115980.1	Q96T83	SL9A7_HUMAN	solute carrier family 9, subfamily A (NHE7, cation proton antiporter 7), member 7	623					regulation of pH	Golgi membrane|integral to membrane|recycling endosome membrane|trans-Golgi network	potassium:hydrogen antiporter activity|protein homodimerization activity|sodium:hydrogen antiporter activity			breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)|skin(1)	21						AGGCGGGGAGCGTGGTGGTTA	0.498													6	74					0	0	1	0	0	T	46472781	C	T	46472781	2	4	81	1	0	0	0	0	0	0	0	1	14774	755	27	1		1	SLC9A7	23	46472781	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	112209	46472781	108797779	15091	18707											
RP2	6102	broad.mit.edu	37	X	46713008	46713008	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:46713008G>A	ENST00000218340.3	+	2	361	c.200G>A	c.(199-201)tGt>tAt	p.C67Y		NM_006915.2	NP_008846.2	O75695	XRP2_HUMAN	retinitis pigmentosa 2 (X-linked recessive)	67	C-CAP/cofactor C-like.		C -> Y (in RP2).		cell morphogenesis|CTP biosynthetic process|GTP biosynthetic process|protein folding|UTP biosynthetic process|visual perception	cytoplasm|plasma membrane	ATP binding|GTP binding|GTPase activator activity|nucleoside diphosphate kinase activity|unfolded protein binding			NS(1)|large_intestine(4)|lung(5)|stomach(1)	11						ATTCAAGACTGTGAGAACTGT	0.433													17	122					0	0	1	0	0	A	46713008	G	A	46713008	3	1	81	1	0	0	0	0	1	0	0	0	13586	1377	48	2	206	2	RP2	23	46713008	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	240227	46713008	108557552	15092	18708											
NDUFB11	54539	broad.mit.edu	37	X	47002075	47002075	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:47002075G>T	ENST00000377811.3	-	2	1100	c.276C>A	c.(274-276)ttC>ttA	p.F92L	NDUFB11_ENST00000276062.8_Missense_Mutation_p.F92L	NM_001135998.2	NP_001129470.1	Q9NX14	NDUBB_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 11, 17.3kDa	92					respiratory electron transport chain|transport	integral to membrane|mitochondrial respiratory chain complex I				endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	7						AGACGCCAAAGAAGAAGACAA	0.537													6	59					1.6384e-10	2.00851e-10	1	1	0	T	47002075	G	T	47002075	3	4	81	1	0	0	0	0	1	0	0	0	10327	933	33	4	223	4	NDUFB11	23	47002075	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	289067	47002075	108268485	15093	18709											
RBM10	8241	broad.mit.edu	37	X	47039292	47039292	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:47039292C>T	ENST00000377604.3	+	10	1657	c.915C>T	c.(913-915)cgC>cgT	p.R305R	RBM10_ENST00000478410.1_3'UTR|RBM10_ENST00000329236.7_Silent_p.R228R|RBM10_ENST00000345781.6_Silent_p.R228R	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN	RNA binding motif protein 10	305	RRM 2.				mRNA processing|RNA splicing	chromatin remodeling complex	nucleotide binding|RNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						TCATTTTGCGCAACCTGAACC	0.602													6	5					0	0	1	0	0	T	47039292	C	T	47039292	2	4	81	1	0	0	0	0	0	0	0	1	13163	697	25	2		2	RBM10	23	47039292	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	37217	47039292	108231268	15094	18710											
RBM10	8241	broad.mit.edu	37	X	47045959	47045959	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:47045959G>A	ENST00000377604.3	+	24	3496	c.2754G>A	c.(2752-2754)ctG>ctA	p.L918L	RBM10_ENST00000329236.7_Silent_p.L840L|RBM10_ENST00000345781.6_Silent_p.L841L	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN	RNA binding motif protein 10	918					mRNA processing|RNA splicing	chromatin remodeling complex	nucleotide binding|RNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						AGGAGACACTGCACAAGACAA	0.617													8	8					0	0	1	0	0	A	47045959	G	A	47045959	2	1	81	1	0	0	0	0	0	0	0	1	13163	1306	46	2		2	RBM10	23	47045959	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	6667	47045959	108224601	15095	18711											
USP11	8237	broad.mit.edu	37	X	47098481	47098481	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:47098481G>T	ENST00000377107.2	+	2	543	c.189G>T	c.(187-189)gaG>gaT	p.E63D	USP11_ENST00000218348.3_Missense_Mutation_p.E106D			P51784	UBP11_HUMAN	ubiquitin specific peptidase 11	106					protein deubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|ovary(3)|pancreas(1)|stomach(1)	40						TCCTTGTGGAGAAGCACTGGT	0.527													3	18					6.4e-05	7.07494e-05	1	1	0	T	47098481	G	T	47098481	3	4	81	1	0	0	0	0	1	0	0	0	17102	933	33	4	324	4	USP11	23	47098481	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	52522	47098481	108172079	15096	18712											
ZNF157	7712	broad.mit.edu	37	X	47272259	47272259	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:47272259A>C	ENST00000377073.3	+	4	873	c.787A>C	c.(787-789)Att>Ctt	p.I263L		NM_003446.3	NP_003437.2	P51786	ZN157_HUMAN	zinc finger protein 157	263					negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	11						AACCCTCACGATTCATCAGAG	0.433													6	41					0	0	1	0	0	C	47272259	A	C	47272259	3	2	81	1	0	0	0	0	1	0	0	0	17795	333	12	4	801	4	ZNF157	23	47272259	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	173778	47272259	107998301	15097	18713											
ZNF157	7712	broad.mit.edu	37	X	47272857	47272857	+	Missense_Mutation	SNP	G	G	A	rs138071941		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:47272857G>A	ENST00000377073.3	+	4	1471	c.1385G>A	c.(1384-1386)cGa>cAa	p.R462Q		NM_003446.3	NP_003437.2	P51786	ZN157_HUMAN	zinc finger protein 157	462					negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	11						GAACATCAGCGAATTCACACA	0.458													23	25					0	0	1	0	0	A	47272857	G	A	47272857	3	1	81	1	0	0	0	0	1	0	0	0	17795	1058	37	1	1399	1	ZNF157	23	47272857	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	598	47272857	107997703	15098	18714											
ZNF41	7592	broad.mit.edu	37	X	47307380	47307380	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:47307380G>A	ENST00000377065.4	-	5	2428	c.1789C>T	c.(1789-1791)Cat>Tat	p.H597Y	ZNF41_ENST00000313116.7_Missense_Mutation_p.H597Y|ZNF41_ENST00000397050.2_Missense_Mutation_p.H607Y	NM_153380.2	NP_700359.1	P51814	ZNF41_HUMAN	zinc finger protein 41	639						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|upper_aerodigestive_tract(2)	24		all_lung(315;0.000129)				ATTCTCTGATGCACGCTTAGT	0.453													5	40					0	0	1	0	0	A	47307380	G	A	47307380	3	1	81	1	0	0	0	0	1	0	0	0	17946	1319	46	2	554	2	ZNF41	23	47307380	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	34523	47307380	107963180	15099	18715											
ZNF41	7592	broad.mit.edu	37	X	47308164	47308164	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:47308164G>T	ENST00000377065.4	-	5	1644	c.1005C>A	c.(1003-1005)gtC>gtA	p.V335V	ZNF41_ENST00000313116.7_Silent_p.V335V|ZNF41_ENST00000397050.2_Silent_p.V345V	NM_153380.2	NP_700359.1	P51814	ZNF41_HUMAN	zinc finger protein 41	377						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|upper_aerodigestive_tract(2)	24		all_lung(315;0.000129)				TGAGGGTAAAGACTTTCCCAC	0.408													35	105					2.1956e-27	2.91588e-27	1	1	0	T	47308164	G	T	47308164	2	4	81	1	0	0	0	0	0	0	0	1	17946	929	33	4		4	ZNF41	23	47308164	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	784	47308164	107962396	15100	18716											
ARAF	369	broad.mit.edu	37	X	47422624	47422624	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:47422624G>T	ENST00000377045.4	+	3	290		c.e3-1		ARAF_ENST00000290277.6_Splice_Site|ARAF_ENST00000377039.2_Splice_Site	NM_001256196.1|NM_001654.4	NP_001243125.1|NP_001645.1	P10398	ARAF_HUMAN	v-raf murine sarcoma 3611 viral oncogene homolog						intracellular signal transduction|negative regulation of apoptosis|positive regulation of peptidyl-serine phosphorylation		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity			biliary_tract(1)|endometrium(4)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	29					Adenosine triphosphate(DB00171)	CATACACACAGGTGACTGTCC	0.547											OREG0019758	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	10					5.18039e-06	5.88187e-06	1	1	0	T	47422624	G	T	47422624	5	4	81	1	0	0	0	0	0	0	1	0	834	1014	35	4	102	4	ARAF	23	47422624	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	114460	47422624	107847936	15101	18717											
CFP	5199	broad.mit.edu	37	X	47485822	47485822	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:47485822C>T	ENST00000247153.3	-	8	1278	c.1037G>A	c.(1036-1038)cGc>cAc	p.R346H	CFP_ENST00000396992.3_Missense_Mutation_p.R346H|CFP_ENST00000377005.2_Missense_Mutation_p.R346H	NM_002621.2	NP_002612.1	P27918	PROP_HUMAN	complement factor properdin	346	TSP type-1 5.				complement activation, alternative pathway|defense response to bacterium	extracellular space		p.R346H(1)		breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	18						GGTCCTCCCGCGTGACTGCTG	0.622													12	19					0	0	1	0	0	T	47485822	C	T	47485822	3	4	81	1	0	0	0	0	1	0	0	0	3315	768	27	1	384	1	CFP	23	47485822	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	63198	47485822	107784738	15102	18718											
CFP	5199	broad.mit.edu	37	X	47486268	47486268	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:47486268G>A	ENST00000247153.3	-	7	1085	c.844C>T	c.(844-846)Cgg>Tgg	p.R282W	CFP_ENST00000396992.3_Missense_Mutation_p.R282W|CFP_ENST00000377005.2_Missense_Mutation_p.R282W	NM_002621.2	NP_002612.1	P27918	PROP_HUMAN	complement factor properdin	282	TSP type-1 4.				complement activation, alternative pathway|defense response to bacterium	extracellular space				breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	18						TTGCACGTCCGTTGTTCCATG	0.667													4	13					0	0	1	0	0	A	47486268	G	A	47486268	3	1	81	1	0	0	0	0	1	0	0	0	3315	1144	40	1	581	1	CFP	23	47486268	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	446	47486268	107784292	15103	18719											
ELK1	2002	broad.mit.edu	37	X	47496428	47496428	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:47496428G>T	ENST00000247161.3	-	5	1271	c.1172C>A	c.(1171-1173)gCc>gAc	p.A391D	ELK1_ENST00000376983.3_Missense_Mutation_p.A391D|ELK1_ENST00000592066.1_Missense_Mutation_p.A337D	NM_005229.4	NP_005220.2	P19419	ELK1_HUMAN	ELK1, member of ETS oncogene family	391	Sufficient for interaction with MAD2L2.				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway		protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|skin(2)	10						GGAGAGCTTGGCCGGGCTACG	0.612													6	14					0.0293803	0.0300537	1	1	0	T	47496428	G	T	47496428	3	4	81	1	0	0	0	0	1	0	0	0	5087	1203	42	5	122	5	ELK1	23	47496428	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	10160	47496428	107774132	15104	18720											
ELK1	2002	broad.mit.edu	37	X	47497220	47497220	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:47497220G>A	ENST00000247161.3	-	4	1115	c.1016C>T	c.(1015-1017)tCg>tTg	p.S339L	ELK1_ENST00000343894.4_Intron|ELK1_ENST00000376983.3_Missense_Mutation_p.S339L|ELK1_ENST00000592066.1_Missense_Mutation_p.S285L	NM_005229.4	NP_005220.2	P19419	ELK1_HUMAN	ELK1, member of ETS oncogene family	339					innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway		protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|skin(2)	10						GCCACTTCCCGATCCTGGGGT	0.692													4	4					0	0	1	0	0	A	47497220	G	A	47497220	3	1	81	1	0	0	0	0	1	0	0	0	5087	1059	37	1	282	1	ELK1	23	47497220	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	792	47497220	107773340	15105	18721											
ELK1	2002	broad.mit.edu	37	X	47497276	47497276	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:47497276C>T	ENST00000247161.3	-	4	1059	c.960G>A	c.(958-960)gaG>gaA	p.E320E	ELK1_ENST00000343894.4_Intron|ELK1_ENST00000376983.3_Silent_p.E320E|ELK1_ENST00000592066.1_Silent_p.E266E	NM_005229.4	NP_005220.2	P19419	ELK1_HUMAN	ELK1, member of ETS oncogene family	320					innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway		protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|skin(2)	10						TGAGTGGAAGCTCTAGGTCCC	0.721													4	4					0	0	1	0	0	T	47497276	C	T	47497276	2	4	81	1	0	0	0	0	0	0	0	1	5087	796	28	2		2	ELK1	23	47497276	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	56	47497276	107773284	15106	18722											
ZNF81	347344	broad.mit.edu	37	X	47774563	47774563	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:47774563G>A	ENST00000376954.1	+	6	886	c.518G>A	c.(517-519)gGa>gAa	p.G173E	ZNF81_ENST00000338637.7_Missense_Mutation_p.G173E			P51508	ZNF81_HUMAN	zinc finger protein 81	173						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|large_intestine(1)|lung(1)|skin(1)	4		all_lung(315;0.0973)				AAAGACTTTGGAAAATTTGTT	0.333													16	33					0	0	1	0	0	A	47774563	G	A	47774563	3	1	81	1	0	0	0	0	1	0	0	0	18222	1174	41	2	532	2	ZNF81	23	47774563	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	277287	47774563	107495997	15107	18723											
ZNF81	347344	broad.mit.edu	37	X	47775287	47775287	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:47775287C>T	ENST00000376954.1	+	6	1610	c.1242C>T	c.(1240-1242)caC>caT	p.H414H	ZNF81_ENST00000338637.7_Silent_p.H414H			P51508	ZNF81_HUMAN	zinc finger protein 81	414						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|large_intestine(1)|lung(1)|skin(1)	4		all_lung(315;0.0973)				AGAGACATCACAAATGCAGTG	0.423													4	45					0	0	1	0	0	T	47775287	C	T	47775287	2	4	81	1	0	0	0	0	0	0	0	1	18222	477	17	2		2	ZNF81	23	47775287	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	724	47775287	107495273	15108	18724											
ZNF182	7569	broad.mit.edu	37	X	47835672	47835672	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:47835672T>G	ENST00000396965.1	-	7	2164	c.1814A>C	c.(1813-1815)aAa>aCa	p.K605T	ZNF182_ENST00000305127.6_Missense_Mutation_p.K605T|ZNF182_ENST00000376943.3_Missense_Mutation_p.K586T	NM_001178099.1	NP_001171570.1	P17025	ZN182_HUMAN	zinc finger protein 182	605					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)	22						GGTAAAGGCTTTCCCACATTC	0.438													14	148					0	0	1	0	0	G	47835672	T	G	47835672	3	3	81	1	0	0	0	0	1	0	0	0	17808	1841	64	5	109	5	ZNF182	23	47835672	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	60385	47835672	107434888	15109	18725											
SSX5	6758	broad.mit.edu	37	X	48054794	48054794	+	Translation_Start_Site	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:48054794T>C	ENST00000311798.1	-	2	53	c.1A>G	c.(1-3)Atg>Gtg	p.M1V	SSX5_ENST00000347757.1_Start_Codon_SNP_p.M1V|SSX5_ENST00000376923.1_Start_Codon_SNP_p.M1V	NM_021015.3	NP_066295.3	O60225	SSX5_HUMAN	synovial sarcoma, X breakpoint 5	1					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding			endometrium(3)|kidney(1)|large_intestine(6)|lung(7)|skin(1)	18						TCTCCGTTCATGGCACCGGGA	0.532													15	122					0	0	1	0	0	C	48054794	T	C	48054794	1	2	81	1	0	0	0	0	0	0	0	0	15264	1464	51	3		3	SSX5	23	48054794	Translation_Start_Site	SNP	T	TCGA-DU-6392-01A-11D-1705-08	219122	48054794	107215766	15110	18726											
SSX1	6756	broad.mit.edu	37	X	48125807	48125807	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:48125807G>A	ENST00000376919.3	+	7	688	c.552G>A	c.(550-552)gaG>gaA	p.E184E		NM_001278691.1|NM_005635.2	NP_001265620.1|NP_005626.1	Q16384	SSX1_HUMAN	synovial sarcoma, X breakpoint 1	184					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|transcription corepressor activity		SS18/SSX1(1169)|SS18L1/SSX1(2)	endometrium(2)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	9						GTGACCCTGAGGAAGATGACG	0.488			T	SS18	synovial sarcoma								120	267					0	0	1	0	0	A	48125807	G	A	48125807	2	1	81	1	0	0	0	0	0	0	0	1	15259	991	35	2		2	SSX1	23	48125807	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	71013	48125807	107144753	15111	18727											
PORCN	64840	broad.mit.edu	37	X	48368273	48368273	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:48368273C>T	ENST00000359882.4	+	2	244	c.65C>T	c.(64-66)gCc>gTc	p.A22V	PORCN_ENST00000326194.6_Missense_Mutation_p.A22V|PORCN_ENST00000355961.4_Missense_Mutation_p.A22V|PORCN_ENST00000355092.3_Missense_Mutation_p.A22V|PORCN_ENST00000537758.1_Missense_Mutation_p.A22V|PORCN_ENST00000486272.1_Intron|PORCN_ENST00000361988.3_Missense_Mutation_p.A22V|PORCN_ENST00000367574.4_5'UTR			Q9H237	PORCN_HUMAN	porcupine homolog (Drosophila)	22	Leu-rich.				Wnt receptor signaling pathway	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CTGCCTACTGCCCAGCAGGGC	0.607													10	36					0	0	1	0	0	T	48368273	C	T	48368273	3	4	81	1	0	0	0	0	1	0	0	0	12306	739	26	2	67	2	PORCN	23	48368273	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	242466	48368273	106902287	15112	18728											
PORCN	64840	broad.mit.edu	37	X	48369778	48369778	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:48369778C>A	ENST00000367574.4	+	3	524	c.19C>A	c.(19-21)Ctc>Atc	p.L7I	PORCN_ENST00000326194.6_Missense_Mutation_p.L78I|PORCN_ENST00000355961.4_Missense_Mutation_p.L78I|PORCN_ENST00000355092.3_Missense_Mutation_p.L78I|PORCN_ENST00000537758.1_Missense_Mutation_p.L78I|PORCN_ENST00000361988.3_Missense_Mutation_p.L78I|PORCN_ENST00000359882.4_Missense_Mutation_p.L78I	NM_001282167.1	NP_001269096.1	Q9H237	PORCN_HUMAN	porcupine homolog (Drosophila)	78					Wnt receptor signaling pathway	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GGTCGTGCTGCTCAGCCTCCT	0.567											OREG0019764	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	116					1.49906e-05	1.6816e-05	1	1	0	A	48369778	C	A	48369778	3	1	81	1	0	0	0	0	1	0	0	0	12306	797	28	4	238	4	PORCN	23	48369778	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1505	48369778	106900782	15113	18729											
PORCN	64840	broad.mit.edu	37	X	48370738	48370738	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:48370738A>T	ENST00000367574.4	+	5	690	c.185A>T	c.(184-186)aAg>aTg	p.K62M	PORCN_ENST00000326194.6_Missense_Mutation_p.K133M|PORCN_ENST00000355961.4_Missense_Mutation_p.K133M|PORCN_ENST00000355092.3_Missense_Mutation_p.K133M|PORCN_ENST00000537758.1_Missense_Mutation_p.K133M|PORCN_ENST00000361988.3_Missense_Mutation_p.K133M|PORCN_ENST00000359882.4_Missense_Mutation_p.K133M	NM_001282167.1	NP_001269096.1	Q9H237	PORCN_HUMAN	porcupine homolog (Drosophila)	133	Leu-rich.				Wnt receptor signaling pathway	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GTGGCCATGAAGGCAGTGTCT	0.607													4	36					0	0	1	0	0	T	48370738	A	T	48370738	3	4	81	1	0	0	0	0	1	0	0	0	12306	72	3	5	412	5	PORCN	23	48370738	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	960	48370738	106899822	15114	18730											
PORCN	64840	broad.mit.edu	37	X	48372938	48372938	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:48372938A>C	ENST00000367574.4	+	8	1130	c.625A>C	c.(625-627)Aat>Cat	p.N209H	PORCN_ENST00000326194.6_Missense_Mutation_p.N291H|PORCN_ENST00000355961.4_Missense_Mutation_p.N286H|PORCN_ENST00000355092.3_Missense_Mutation_p.N285H|PORCN_ENST00000537758.1_Missense_Mutation_p.N291H|PORCN_ENST00000361988.3_Missense_Mutation_p.N280H|PORCN_ENST00000359882.4_Missense_Mutation_p.N285H	NM_001282167.1	NP_001269096.1	Q9H237	PORCN_HUMAN	porcupine homolog (Drosophila)	291					Wnt receptor signaling pathway	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CAAGCCACTGAATGTGGAGCT	0.517													7	57					0	0	1	0	0	C	48372938	A	C	48372938	3	2	81	1	0	0	0	0	1	0	0	0	12306	246	9	5	905	5	PORCN	23	48372938	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	2200	48372938	106897622	15115	18731											
TBC1D25	4943	broad.mit.edu	37	X	48418637	48418638	+	Frame_Shift_Ins	INS	-	-	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:48418637_48418638insC	ENST00000376771.4	+	6	1682_1683	c.1341_1342insC	c.(1342-1344)cccfs	p.P448fs	TBC1D25_ENST00000537536.1_Frame_Shift_Ins_p.P194fs	NM_002536.2	NP_002527.1	Q3MII6	TBC25_HUMAN	TBC1 domain family, member 25	448						intracellular	Rab GTPase activator activity			large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4						AGCTGGTTGGACCCCCCAGCCA	0.614													10	20	---	---	---	---						C	48418638	-	C	48418637	7	5	81	1	0	1	1	0	0	0	0	0	15672	262	10	0	1363	0	TBC1D25	23	48418637	Frame_Shift_Ins	INS	-	TCGA-DU-6392-01A-11D-1705-08	45699	48418637	106851923	15116	18732											
SUV39H1	6839	broad.mit.edu	37	X	48557420	48557420	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:48557420C>T	ENST00000376687.3	+	2	337	c.147C>T	c.(145-147)tgC>tgT	p.C49C	AF196970.3_ENST00000416061.1_RNA|SUV39H1_ENST00000337852.6_Silent_p.C60C|SUV39H1_ENST00000453214.2_5'UTR	NM_003173.2	NP_003164.1	O43463	SUV91_HUMAN	suppressor of variegation 3-9 homolog 1 (Drosophila)	49	Chromo.|Interaction with SIRT1.				cell cycle|cell differentiation|chromatin silencing at rDNA|interspecies interaction between organisms|rRNA processing|transcription, DNA-dependent	chromatin silencing complex|chromosome, centromeric region|condensed nuclear chromosome|rDNA heterochromatin	chromatin binding|histone methyltransferase activity (H3-K9 specific)|protein N-terminus binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	14						AGTACCTGTGCGATTACAAGA	0.572													5	15					0	0	1	0	0	T	48557420	C	T	48557420	2	4	81	1	0	0	0	0	0	0	0	1	15468	776	27	1		1	SUV39H1	23	48557420	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	138783	48557420	106713140	15117	18733											
SUV39H1	6839	broad.mit.edu	37	X	48559102	48559102	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:48559102G>T	ENST00000376687.3	+	3	976	c.786G>T	c.(784-786)gaG>gaT	p.E262D	AF196970.3_ENST00000416061.1_RNA|SUV39H1_ENST00000337852.6_Missense_Mutation_p.E273D|SUV39H1_ENST00000453214.2_Missense_Mutation_p.R110I	NM_003173.2	NP_003164.1	O43463	SUV91_HUMAN	suppressor of variegation 3-9 homolog 1 (Drosophila)	262	Mediates interaction with MECOM (By similarity).|SET.				cell cycle|cell differentiation|chromatin silencing at rDNA|interspecies interaction between organisms|rRNA processing|transcription, DNA-dependent	chromatin silencing complex|chromosome, centromeric region|condensed nuclear chromosome|rDNA heterochromatin	chromatin binding|histone methyltransferase activity (H3-K9 specific)|protein N-terminus binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	14						GCACCCTGGAGAAGATTCGCA	0.572													4	24					0.150653	0.152522	1	1	0	T	48559102	G	T	48559102	3	4	81	1	0	0	0	0	1	0	0	0	15468	933	33	4	796	4	SUV39H1	23	48559102	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1682	48559102	106711458	15118	18734											
HDAC6	10013	broad.mit.edu	37	X	48663861	48663861	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:48663861G>A	ENST00000334136.5	+	5	506	c.328G>A	c.(328-330)Gag>Aag	p.E110K	HDAC6_ENST00000376619.2_Missense_Mutation_p.E110K|HDAC6_ENST00000444343.2_Missense_Mutation_p.E124K|HDAC6_ENST00000413163.2_Missense_Mutation_p.E55K|HDAC6_ENST00000469223.1_3'UTR			Q9UBN7	HDAC6_HUMAN	histone deacetylase 6	110	Histone deacetylase 1.				aggresome assembly|cellular response to hydrogen peroxide|Hsp90 deacetylation|lysosome localization|macroautophagy|misfolded or incompletely synthesized protein catabolic process|negative regulation of proteolysis|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|polyubiquitinated misfolded protein transport|positive regulation of apoptosis|positive regulation of cellular chaperone-mediated protein complex assembly|positive regulation of epithelial cell migration|positive regulation of receptor biosynthetic process|positive regulation of signal transduction|regulation of androgen receptor signaling pathway|regulation of receptor activity|response to growth factor stimulus|response to toxin|transcription, DNA-dependent|tubulin deacetylation	aggresome|caveola|cell leading edge|cytosol|histone deacetylase complex|microtubule associated complex|perinuclear region of cytoplasm	actin binding|alpha-tubulin binding|beta-catenin binding|dynein complex binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|Hsp90 protein binding|microtubule binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|polyubiquitin binding|tau protein binding|tubulin deacetylase activity|zinc ion binding			breast(2)|endometrium(6)|kidney(5)|large_intestine(8)|lung(9)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	40					Vorinostat(DB02546)	GGAAGGCCCTGAGCGGCTCCA	0.592													10	15					0	0	1	0	0	A	48663861	G	A	48663861	3	1	81	1	0	0	0	0	1	0	0	0	7052	1291	45	2	342	2	HDAC6	23	48663861	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	104759	48663861	106606699	15119	18735											
PIM2	11040	broad.mit.edu	37	X	48772384	48772384	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:48772384G>T	ENST00000376509.4	-	4	697	c.508C>A	c.(508-510)Ctg>Atg	p.L170M		NM_006875.3	NP_006866.2	Q9P1W9	PIM2_HUMAN	pim-2 oncogene	170	Protein kinase.				anti-apoptosis|cell proliferation|male meiosis|positive regulation of autophagy|positive regulation of I-kappaB kinase/NF-kappaB cascade|response to virus		ATP binding|protein serine/threonine kinase activity			lung(3)|stomach(1)	4						AGGTCTATCAGGATGTTCTCA	0.517													4	42					0.184627	0.18622	1	1	0	T	48772384	G	T	48772384	3	4	81	1	0	0	0	0	1	0	0	0	11976	991	35	4	439	4	PIM2	23	48772384	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	108523	48772384	106498176	15120	18736											
OTUD5	55593	broad.mit.edu	37	X	48780953	48780953	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:48780953C>A	ENST00000156084.4	-	8	1611	c.1551G>T	c.(1549-1551)ttG>ttT	p.L517F	OTUD5_ENST00000428668.2_Missense_Mutation_p.L295F|OTUD5_ENST00000396743.3_Missense_Mutation_p.L512F|OTUD5_ENST00000376488.3_Missense_Mutation_p.L512F	NM_017602.3	NP_060072.1	Q96G74	OTUD5_HUMAN	OTU domain containing 5	517					negative regulation of type I interferon production		cysteine-type peptidase activity			endometrium(2)|large_intestine(3)|lung(6)|pancreas(2)	13						CCCGGCACTCCAAAGCAGGGT	0.602													4	11					0.00909568	0.00944708	1	1	0	A	48780953	C	A	48780953	3	1	81	1	0	0	0	0	1	0	0	0	11362	593	21	5	172	5	OTUD5	23	48780953	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	8569	48780953	106489607	15121	18737											
KCND1	3750	broad.mit.edu	37	X	48819929	48819929	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:48819929G>A	ENST00000218176.3	-	6	3154	c.1857C>T	c.(1855-1857)ggC>ggT	p.G619G	KCND1_ENST00000376477.1_Silent_p.G242G	NM_004979.4	NP_004970.3	Q9NSA2	KCND1_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 1	619						voltage-gated potassium channel complex	metal ion binding|voltage-gated potassium channel activity			endometrium(3)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	24						CCCTGCCACCGCCGCCAGGGG	0.637													9	15					0	0	1	0	0	A	48819929	G	A	48819929	2	1	81	1	0	0	0	0	0	0	0	1	8062	1074	38	1		1	KCND1	23	48819929	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	38976	48819929	106450631	15122	18738											
CCDC120	90060	broad.mit.edu	37	X	48921961	48921961	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:48921961G>A	ENST00000376396.3	+	6	604	c.385G>A	c.(385-387)Gcc>Acc	p.A129T	CCDC120_ENST00000422185.2_Missense_Mutation_p.A129T|CCDC120_ENST00000597275.1_Missense_Mutation_p.A129T|CCDC120_ENST00000603986.1_Missense_Mutation_p.A164T|CCDC120_ENST00000496529.2_Missense_Mutation_p.A129T|CCDC120_ENST00000536628.2_Missense_Mutation_p.A117T	NM_001271835.1|NM_001271836.1|NM_033626.2	NP_001258764.1|NP_001258765.1|NP_296375.1	Q96HB5	CC120_HUMAN	coiled-coil domain containing 120	129							protein binding			breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	14						CGCGGCGGCCGCCCGCCGCCT	0.667													5	2					0	0	1	0	0	A	48921961	G	A	48921961	3	1	81	1	0	0	0	0	1	0	0	0	2774	1087	38	1	399	1	CCDC120	23	48921961	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	102032	48921961	106348599	15123	18739											
WDR45	11152	broad.mit.edu	37	X	48933405	48933405	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:48933405G>A	ENST00000356463.3	-	9	965	c.527C>T	c.(526-528)gCg>gTg	p.A176V	WDR45_ENST00000473974.1_Missense_Mutation_p.A175V|AF196779.12_ENST00000376358.3_Missense_Mutation_p.A73V|WDR45_ENST00000376368.2_Missense_Mutation_p.A176V|WDR45_ENST00000322995.8_Missense_Mutation_p.A186V|WDR45_ENST00000485908.1_Missense_Mutation_p.A140V|WDR45_ENST00000553851.1_Missense_Mutation_p.A73V|WDR45_ENST00000376372.3_Missense_Mutation_p.A175V|WDR45_ENST00000396681.4_Missense_Mutation_p.A175V	NM_007075.3	NP_009006.2	Q9Y484	WIPI4_HUMAN	WD repeat domain 45	175					autophagy|response to starvation	organelle membrane	phosphatidylinositol-3,5-bisphosphate binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	19						CTTTGTGCTCGCCAGGTCCTG	0.582													3	11					0	0	1	0	0	A	48933405	G	A	48933405	3	1	81	1	0	0	0	0	1	0	0	0	17357	1087	38	1	574	1	WDR45	23	48933405	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	11444	48933405	106337155	15124	18740											
PLP2	5355	broad.mit.edu	37	X	49030697	49030697	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:49030697G>A	ENST00000376327.5	+	4	436	c.361G>A	c.(361-363)Gct>Act	p.A121T		NM_002668.2	NP_002659.1	Q04941	PLP2_HUMAN	proteolipid protein 2 (colonic epithelium-enriched)	121	MARVEL.				chemotaxis|cytokine-mediated signaling pathway	endoplasmic reticulum membrane|integral to membrane|membrane fraction|plasma membrane	chemokine binding|ion transmembrane transporter activity			endometrium(3)|large_intestine(1)|lung(6)|urinary_tract(3)	13						GGGCCTAATCGCTACGTGCCT	0.527													16	20					0	0	1	0	0	A	49030697	G	A	49030697	3	1	81	1	0	0	0	0	1	0	0	0	12153	1087	38	1	375	1	PLP2	23	49030697	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	97292	49030697	106239863	15125	18741											
CACNA1F	778	broad.mit.edu	37	X	49062226	49062226	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:49062226C>T	ENST00000376265.2	-	47	5614	c.5553G>A	c.(5551-5553)ccG>ccA	p.P1851P	CACNA1F_ENST00000376251.1_Silent_p.P1786P|CACNA1F_ENST00000323022.5_Silent_p.P1840P	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	1851					axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Verapamil(DB00661)	CCAACAACAGCGGGGCATACA	0.627													6	6					0	0	1	0	0	T	49062226	C	T	49062226	2	4	81	1	0	0	0	0	0	0	0	1	2561	755	27	1		1	CACNA1F	23	49062226	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	31529	49062226	106208334	15126	18742											
CACNA1F	778	broad.mit.edu	37	X	49063466	49063466	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:49063466C>T	ENST00000376265.2	-	44	5325	c.5264G>A	c.(5263-5265)cGg>cAg	p.R1755Q	CACNA1F_ENST00000376251.1_Splice_Site_p.R1690Q|CACNA1F_ENST00000323022.5_Splice_Site_p.R1744Q	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	1755					axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Verapamil(DB00661)	GCCAGTGTACCGATCAGGGAC	0.567													6	13					0	0	1	0	0	T	49063466	C	T	49063466	5	4	81	1	0	0	0	0	0	0	1	0	2561	666	23	1	689	1	CACNA1F	23	49063466	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1240	49063466	106207094	15127	18743											
PPP1R3F	89801	broad.mit.edu	37	X	49143182	49143182	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:49143182T>C	ENST00000055335.6	+	4	2046	c.2030T>C	c.(2029-2031)gTc>gCc	p.V677A	PPP1R3F_ENST00000495799.1_Missense_Mutation_p.V331A|PPP1R3F_ENST00000376188.1_Missense_Mutation_p.V331A|PPP1R3F_ENST00000438316.1_Missense_Mutation_p.V348A|PPP1R3F_ENST00000466508.1_Missense_Mutation_p.V331A	NM_033215.4	NP_149992.3	Q6ZSY5	PPR3F_HUMAN	protein phosphatase 1, regulatory subunit 3F	677						integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(4)	27	Ovarian(276;0.236)					CAGATAGAGGTCACCAGTGAG	0.592													6	12					0	0	1	0	0	C	49143182	T	C	49143182	3	2	81	1	0	0	0	0	1	0	0	0	12424	1667	58	3	2044	3	PPP1R3F	23	49143182	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	79716	49143182	106127378	15128	18744											
PPP1R3F	89801	broad.mit.edu	37	X	49143232	49143232	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:49143232G>T	ENST00000055335.6	+	4	2096	c.2080G>T	c.(2080-2082)Gcc>Tcc	p.A694S	PPP1R3F_ENST00000495799.1_Missense_Mutation_p.A348S|PPP1R3F_ENST00000376188.1_Missense_Mutation_p.A348S|PPP1R3F_ENST00000438316.1_Missense_Mutation_p.A365S|PPP1R3F_ENST00000466508.1_Missense_Mutation_p.A348S	NM_033215.4	NP_149992.3	Q6ZSY5	PPR3F_HUMAN	protein phosphatase 1, regulatory subunit 3F	694						integral to membrane		p.A694P(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(4)	27	Ovarian(276;0.236)					CAAGGAGCCAGCCTCTCCCGT	0.617													6	6					0.00116845	0.00124301	1	1	0	T	49143232	G	T	49143232	3	4	81	1	0	0	0	0	1	0	0	0	12424	971	34	4	2094	4	PPP1R3F	23	49143232	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	50	49143232	106127328	15129	18745											
CLCN5	1184	broad.mit.edu	37	X	49846431	49846431	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:49846431T>G	ENST00000376088.3	+	9	1501	c.860T>G	c.(859-861)gTg>gGg	p.V287G	CLCN5_ENST00000376108.3_Missense_Mutation_p.V217G|CLCN5_ENST00000307367.2_Missense_Mutation_p.V217G|CLCN5_ENST00000376091.3_Missense_Mutation_p.V287G	NM_001127898.1|NM_001127899.1	NP_001121370.1|NP_001121371.1	P51795	CLCN5_HUMAN	chloride channel, voltage-sensitive 5	217					excretion	apical part of cell|endosome membrane|Golgi membrane|integral to plasma membrane	antiporter activity|ATP binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)	30	Ovarian(276;0.236)					CTAGTGCACGTGGCTTGCTGC	0.507													29	39					0	0	1	0	0	G	49846431	T	G	49846431	3	3	81	1	0	0	0	0	1	0	0	0	3489	1696	59	5	886	5	CLCN5	23	49846431	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	703199	49846431	105424129	15130	18746											
CLCN5	1184	broad.mit.edu	37	X	49851517	49851517	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:49851517T>A	ENST00000376088.3	+	11	2188	c.1547T>A	c.(1546-1548)tTt>tAt	p.F516Y	CLCN5_ENST00000376108.3_Missense_Mutation_p.F446Y|CLCN5_ENST00000307367.2_Missense_Mutation_p.F446Y|CLCN5_ENST00000376091.3_Missense_Mutation_p.F516Y	NM_001127898.1|NM_001127899.1	NP_001121370.1|NP_001121371.1	P51795	CLCN5_HUMAN	chloride channel, voltage-sensitive 5	446			R -> W (in NPHL2; causes retention in the endoplasmic reticulum and alters protein stability; total loss of function).		excretion	apical part of cell|endosome membrane|Golgi membrane|integral to plasma membrane	antiporter activity|ATP binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)	30	Ovarian(276;0.236)					ATATTCACCTTTGGCATGAAG	0.493													21	27					0	0	1	0	0	A	49851517	T	A	49851517	3	1	81	1	0	0	0	0	1	0	0	0	3489	1841	64	5	1581	5	CLCN5	23	49851517	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	5086	49851517	105419043	15131	18747											
CLCN5	1184	broad.mit.edu	37	X	49856787	49856787	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:49856787C>T	ENST00000376088.3	+	15	3003	c.2362C>T	c.(2362-2364)Cga>Tga	p.R788*	CLCN5_ENST00000376108.3_Splice_Site_p.R718*|CLCN5_ENST00000307367.2_Splice_Site_p.R718*|CLCN5_ENST00000376091.3_Splice_Site_p.R788*	NM_001127898.1|NM_001127899.1	NP_001121370.1|NP_001121371.1	P51795	CLCN5_HUMAN	chloride channel, voltage-sensitive 5	718					excretion	apical part of cell|endosome membrane|Golgi membrane|integral to plasma membrane	antiporter activity|ATP binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)	30	Ovarian(276;0.236)					GTCTTTTAGGCGATTGCTTGG	0.353													14	36					0	0	1	0	0	T	49856787	C	T	49856787	5	4	81	1	0	0	0	0	0	0	1	0	3489	782	27	1	2412	1	CLCN5	23	49856787	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	5270	49856787	105413773	15132	18748											
AKAP4	8852	broad.mit.edu	37	X	49963374	49963374	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:49963374G>C	ENST00000376056.2	-	2	180	c.30C>G	c.(28-30)agC>agG	p.S10R	AKAP4_ENST00000376064.3_Missense_Mutation_p.S10R|AKAP4_ENST00000481402.1_5'UTR|AKAP4_ENST00000358526.2_Missense_Mutation_p.S19R|AKAP4_ENST00000376058.2_Missense_Mutation_p.S10R			Q5JQC9	AKAP4_HUMAN	A kinase (PRKA) anchor protein 4	19					cell projection organization|single fertilization|sperm motility	cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum	protein kinase A binding			NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41	Ovarian(276;0.236)					CACCCCTGTGGCTGCGTAACC	0.433													11	13					0	0	1	0	0	C	49963374	G	C	49963374	3	2	81	1	0	0	0	0	1	0	0	0	450	1194	42	5	2527	5	AKAP4	23	49963374	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	106587	49963374	105307186	15133	18749											
CCNB3	85417	broad.mit.edu	37	X	50031781	50031781	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:50031781C>T	ENST00000376042.1	+	4	396	c.98C>T	c.(97-99)aCg>aTg	p.T33M	CCNB3_ENST00000376038.1_Splice_Site_p.T33M|CCNB3_ENST00000276014.7_Splice_Site_p.T33M|CCNB3_ENST00000348603.2_Splice_Site_p.T33M			Q8WWL7	CCNB3_HUMAN	cyclin B3	33					cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding			breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					CTTTTTTAGACGGGGGAGAAT	0.438													11	16					0	0	1	0	0	T	50031781	C	T	50031781	5	4	81	1	0	0	0	0	0	0	1	0	2936	550	19	1	104	1	CCNB3	23	50031781	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	68407	50031781	105238779	15134	18750											
CCNB3	85417	broad.mit.edu	37	X	50053092	50053092	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:50053092A>G	ENST00000376042.1	+	6	2221	c.1923A>G	c.(1921-1923)gcA>gcG	p.A641A	CCNB3_ENST00000376038.1_Intron|CCNB3_ENST00000276014.7_Silent_p.A641A|CCNB3_ENST00000348603.2_Intron			Q8WWL7	CCNB3_HUMAN	cyclin B3	641					cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding			breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					AACCATCTGCATTGAAAGAGA	0.453													5	24					0	0	1	0	0	G	50053092	A	G	50053092	2	3	81	1	0	0	0	0	0	0	0	1	2936	204	8	3		3	CCNB3	23	50053092	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	21311	50053092	105217468	15135	18751											
CCNB3	85417	broad.mit.edu	37	X	50053116	50053116	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:50053116G>A	ENST00000376042.1	+	6	2245	c.1947G>A	c.(1945-1947)ttG>ttA	p.L649L	CCNB3_ENST00000376038.1_Intron|CCNB3_ENST00000276014.7_Silent_p.L649L|CCNB3_ENST00000348603.2_Intron			Q8WWL7	CCNB3_HUMAN	cyclin B3	649					cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding			breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					ATACCACCTTGCAGGAAGTGT	0.428													6	22					0	0	1	0	0	A	50053116	G	A	50053116	2	1	81	1	0	0	0	0	0	0	0	1	2936	1310	46	2		2	CCNB3	23	50053116	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	24	50053116	105217444	15136	18752											
CCNB3	85417	broad.mit.edu	37	X	50054133	50054133	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:50054133G>A	ENST00000376042.1	+	6	3262	c.2964G>A	c.(2962-2964)aaG>aaA	p.K988K	CCNB3_ENST00000376038.1_Intron|CCNB3_ENST00000276014.7_Silent_p.K988K|CCNB3_ENST00000348603.2_Intron			Q8WWL7	CCNB3_HUMAN	cyclin B3	988					cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding			breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					TAACCAGCAAGTCCAGCATTG	0.478													39	53					0	0	1	0	0	A	50054133	G	A	50054133	2	1	81	1	0	0	0	0	0	0	0	1	2936	1020	36	2		2	CCNB3	23	50054133	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1017	50054133	105216427	15137	18753											
CCNB3	85417	broad.mit.edu	37	X	50085330	50085330	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:50085330A>C	ENST00000376042.1	+	9	3944	c.3646A>C	c.(3646-3648)Aaa>Caa	p.K1216Q	CCNB3_ENST00000376038.1_Missense_Mutation_p.K112Q|CCNB3_ENST00000348603.2_Missense_Mutation_p.K112Q|CCNB3_ENST00000276014.7_Missense_Mutation_p.K1216Q			Q8WWL7	CCNB3_HUMAN	cyclin B3	1216					cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding			breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					GATTGCAGCAAAATTTGAGGT	0.408													18	31					0	0	1	0	0	C	50085330	A	C	50085330	3	2	81	1	0	0	0	0	1	0	0	0	2936	15	1	5	3672	5	CCNB3	23	50085330	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	31197	50085330	105185230	15138	18754											
DGKK	139189	broad.mit.edu	37	X	50119030	50119030	+	RNA	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:50119030G>T	ENST00000376025.2	-	0	3465							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					TACTTCAATGGGAATACAGGA	0.463													15	29					7.81268e-19	1.01554e-18	1	1	0	T	50119030	G	T	50119030	1	4	81	0	1	0	0	0	0	0	0	0	4500	1232	43	5		5	DGKK	23	50119030	RNA	SNP	G	TCGA-DU-6392-01A-11D-1705-08	33700	50119030	105151530	15139	18755											
DGKK	139189	broad.mit.edu	37	X	50125503	50125503	+	RNA	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:50125503C>A	ENST00000376025.2	-	0	2707							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					CTTGTATTGCCCTGGGTGTTC	0.408													6	50					0.00116845	0.00124301	1	1	0	A	50125503	C	A	50125503	1	1	81	0	1	0	0	0	0	0	0	0	4500	623	22	5		5	DGKK	23	50125503	RNA	SNP	C	TCGA-DU-6392-01A-11D-1705-08	6473	50125503	105145057	15140	18756											
DGKK	139189	broad.mit.edu	37	X	50144082	50144082	+	RNA	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:50144082C>T	ENST00000376025.2	-	0	1423							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	p.R251H(1)		central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					GACTGATGAGCGATGGCTTCT	0.488													10	4					0	0	1	0	0	T	50144082	C	T	50144082	1	4	81	0	1	0	0	0	0	0	0	0	4500	768	27	1		1	DGKK	23	50144082	RNA	SNP	C	TCGA-DU-6392-01A-11D-1705-08	18579	50144082	105126478	15141	18757	94	2									
DGKK	139189	broad.mit.edu	37	X	50144083	50144083	+	RNA	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:50144083G>A	ENST00000376025.2	-	0	1422							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					ACTGATGAGCGATGGCTTCTG	0.483													4	10					0	0	1	0	0	A	50144083	G	A	50144083	1	1	81	0	1	0	0	0	0	0	0	0	4500	1058	37	1		1	DGKK	23	50144083	RNA	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1	50144083	105126477	15142	18758	94	2									
SHROOM4	57477	broad.mit.edu	37	X	50350483	50350483	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:50350483C>A	ENST00000376020.2	-	6	3684	c.3659G>T	c.(3658-3660)aGg>aTg	p.R1220M	SHROOM4_ENST00000289292.7_Missense_Mutation_p.R1220M|SHROOM4_ENST00000460112.3_Missense_Mutation_p.R1104M	NM_020717.3	NP_065768.2	Q9ULL8	SHRM4_HUMAN	shroom family member 4	1220	ASD2.				actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					CAAGTGACCCCTTATTGGAGG	0.552													17	32					2.35188e-11	2.91332e-11	1	1	0	A	50350483	C	A	50350483	3	1	81	1	0	0	0	0	1	0	0	0	14351	681	24	4	838	4	SHROOM4	23	50350483	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	206400	50350483	104920077	15143	18759											
BMP15	9210	broad.mit.edu	37	X	50659372	50659372	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:50659372A>G	ENST00000252677.3	+	2	944	c.944A>G	c.(943-945)tAc>tGc	p.Y315C		NM_005448.2	NP_005439.2	O95972	BMP15_HUMAN	bone morphogenetic protein 15	315					female gamete generation|granulosa cell development|ovarian follicle development	extracellular space	cytokine activity|growth factor activity			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(1)	26	Ovarian(276;0.236)					CCCCCTTTCTACACCCCAAAC	0.488													13	113					0	0	1	0	0	G	50659372	A	G	50659372	3	3	81	1	0	0	0	0	1	0	0	0	1457	391	14	3	950	3	BMP15	23	50659372	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	308889	50659372	104611188	15144	18760											
NUDT11	55190	broad.mit.edu	37	X	51239031	51239031	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:51239031C>T	ENST00000375992.3	-	1	417	c.266G>A	c.(265-267)cGc>cAc	p.R89H		NM_018159.3	NP_060629.2	Q96G61	NUD11_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 11	89	Nudix hydrolase.|Substrate binding (By similarity).					cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	9	Ovarian(276;0.236)					TCTGTGCTTGCGATCCTGGTT	0.582										HNSCC(48;0.14)			31	36					0	0	1	0	0	T	51239031	C	T	51239031	3	4	81	1	0	0	0	0	1	0	0	0	10775	768	27	1	236	1	NUDT11	23	51239031	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	579659	51239031	104031529	15145	18761											
GSPT2	23708	broad.mit.edu	37	X	51486831	51486831	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:51486831G>A	ENST00000340438.4	+	1	351	c.109G>A	c.(109-111)Gcc>Acc	p.A37T		NM_018094.4	NP_060564.2	Q8IYD1	ERF3B_HUMAN	G1 to S phase transition 2	37					cell cycle|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|translational termination	cytoplasm	GTP binding|GTPase activity|protein binding			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20	Ovarian(276;0.236)					CTCTGCGGTGGCCGAGGCCCA	0.687													20	15					0	0	1	0	0	A	51486831	G	A	51486831	3	1	81	1	0	0	0	0	1	0	0	0	6868	1203	42	2	111	2	GSPT2	23	51486831	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	247800	51486831	103783729	15146	18762											
GSPT2	23708	broad.mit.edu	37	X	51488437	51488437	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:51488437G>A	ENST00000340438.4	+	1	1957	c.1715G>A	c.(1714-1716)cGa>cAa	p.R572Q		NM_018094.4	NP_060564.2	Q8IYD1	ERF3B_HUMAN	G1 to S phase transition 2	572					cell cycle|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|translational termination	cytoplasm	GTP binding|GTPase activity|protein binding			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20	Ovarian(276;0.236)					AGTAAGACACGACCCCGCTTC	0.428													27	56					0	0	1	0	0	A	51488437	G	A	51488437	3	1	81	1	0	0	0	0	1	0	0	0	6868	1058	37	1	1717	1	GSPT2	23	51488437	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1606	51488437	103782123	15147	18763											
MAGED1	9500	broad.mit.edu	37	X	51640312	51640312	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:51640312G>C	ENST00000375695.2	+	6	1752	c.1599G>C	c.(1597-1599)aaG>aaC	p.K533N	MAGED1_ENST00000375772.3_Missense_Mutation_p.K477N|MAGED1_ENST00000375722.1_Missense_Mutation_p.K477N|MAGED1_ENST00000494718.1_3'UTR|MAGED1_ENST00000326587.7_Missense_Mutation_p.K477N	NM_001005333.1	NP_001005333.1	Q9Y5V3	MAGD1_HUMAN	melanoma antigen family D, 1	477	MAGE.				apoptosis|induction of apoptosis by extracellular signals|negative regulation of epithelial cell proliferation|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent	cytoplasm|plasma membrane|protein complex	protein binding			breast(1)|endometrium(4)|large_intestine(10)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	32	Ovarian(276;0.236)					AGGCAAATAAGTTGGTCAAGT	0.418										Multiple Myeloma(10;0.10)			18	35					0	0	1	0	0	C	51640312	G	C	51640312	3	2	81	1	0	0	0	0	1	0	0	0	9233	1020	36	4	1617	4	MAGED1	23	51640312	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	151875	51640312	103630248	15148	18764											
MAGED1	9500	broad.mit.edu	37	X	51640976	51640976	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:51640976T>C	ENST00000375695.2	+	8	1973	c.1820T>C	c.(1819-1821)cTg>cCg	p.L607P	MAGED1_ENST00000375772.3_Missense_Mutation_p.L551P|MAGED1_ENST00000375722.1_Missense_Mutation_p.L551P|MAGED1_ENST00000494718.1_3'UTR|MAGED1_ENST00000326587.7_Missense_Mutation_p.L551P	NM_001005333.1	NP_001005333.1	Q9Y5V3	MAGD1_HUMAN	melanoma antigen family D, 1	551	MAGE.				apoptosis|induction of apoptosis by extracellular signals|negative regulation of epithelial cell proliferation|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent	cytoplasm|plasma membrane|protein complex	protein binding			breast(1)|endometrium(4)|large_intestine(10)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	32	Ovarian(276;0.236)					GCTGGCATACTGGGAACGTAA	0.463										Multiple Myeloma(10;0.10)			8	11					0	0	1	0	0	C	51640976	T	C	51640976	3	2	81	1	0	0	0	0	1	0	0	0	9233	1580	55	3	1846	3	MAGED1	23	51640976	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	664	51640976	103629584	15149	18765											
MAGED1	9500	broad.mit.edu	37	X	51641416	51641416	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:51641416C>T	ENST00000375695.2	+	10	2095	c.1942C>T	c.(1942-1944)Cgt>Tgt	p.R648C	MAGED1_ENST00000375772.3_Missense_Mutation_p.R592C|MAGED1_ENST00000375722.1_Missense_Mutation_p.R592C|MAGED1_ENST00000494718.1_3'UTR|MAGED1_ENST00000326587.7_Missense_Mutation_p.R592C	NM_001005333.1	NP_001005333.1	Q9Y5V3	MAGD1_HUMAN	melanoma antigen family D, 1	592	MAGE.				apoptosis|induction of apoptosis by extracellular signals|negative regulation of epithelial cell proliferation|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent	cytoplasm|plasma membrane|protein complex	protein binding			breast(1)|endometrium(4)|large_intestine(10)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	32	Ovarian(276;0.236)					GATGGGACTGCGTCCTGGGTA	0.552										Multiple Myeloma(10;0.10)			18	35					0	0	1	0	0	T	51641416	C	T	51641416	3	4	81	1	0	0	0	0	1	0	0	0	9233	768	27	1	1976	1	MAGED1	23	51641416	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	440	51641416	103629144	15150	18766											
XAGE5	170627	broad.mit.edu	37	X	52844174	52844174	+	Silent	SNP	C	C	T	rs146352090		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:52844174C>T	ENST00000351072.1	+	4	303	c.237C>T	c.(235-237)tgC>tgT	p.C79C	XAGE5_ENST00000425386.1_Silent_p.C79C|XAGE5_ENST00000445860.2_3'UTR|XAGE5_ENST00000375503.3_3'UTR|XAGE5_ENST00000375501.1_Silent_p.C79C			Q8WWM1	GAGD5_HUMAN	X antigen family, member 5	79										endometrium(1)|large_intestine(1)|lung(5)|ovary(1)	8						GGGATGAATGCGGAGATAGTC	0.438													21	38					0	0	1	0	0	T	52844174	C	T	52844174	2	4	81	1	0	0	0	0	0	0	0	1	17481	776	27	1		1	XAGE5	23	52844174	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1202758	52844174	102426386	15151	18767											
TSPYL2	64061	broad.mit.edu	37	X	53114479	53114479	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:53114479G>T	ENST00000375442.4	+	5	1346	c.1214G>T	c.(1213-1215)aGa>aTa	p.R405I		NM_022117.3	NP_071400.1	Q9H2G4	TSYL2_HUMAN	TSPY-like 2	405					cell cycle|chromatin modification|negative regulation of cell cycle|negative regulation of cell growth|negative regulation of DNA replication|nucleosome assembly|regulation of protein kinase activity|regulation of signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	protein binding|rDNA binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)	19						AGGATAAAGAGAAAGAAGCAA	0.438													4	33					0.00909568	0.00944708	1	1	0	T	53114479	G	T	53114479	3	4	81	1	0	0	0	0	1	0	0	0	16721	942	33	4	1232	4	TSPYL2	23	53114479	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	270305	53114479	102156081	15152	18768											
TSPYL2	64061	broad.mit.edu	37	X	53117082	53117082	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:53117082C>T	ENST00000375442.4	+	7	2175	c.2043C>T	c.(2041-2043)aaC>aaT	p.N681N		NM_022117.3	NP_071400.1	Q9H2G4	TSYL2_HUMAN	TSPY-like 2	681					cell cycle|chromatin modification|negative regulation of cell cycle|negative regulation of cell growth|negative regulation of DNA replication|nucleosome assembly|regulation of protein kinase activity|regulation of signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	protein binding|rDNA binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)	19						AGGTCCCAAACGGTTGGGCCA	0.532											OREG0019795	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	15	48					0	0	1	0	0	T	53117082	C	T	53117082	2	4	81	1	0	0	0	0	0	0	0	1	16721	535	19	1		1	TSPYL2	23	53117082	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2603	53117082	102153478	15153	18769											
KDM5C	8242	broad.mit.edu	37	X	53222210	53222210	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:53222210G>A	ENST00000375401.3	-	26	5154	c.4622C>T	c.(4621-4623)tCc>tTc	p.S1541F	KDM5C_ENST00000375379.3_Missense_Mutation_p.S1538F|KDM5C_ENST00000452825.3_Intron|KDM5C_ENST00000375383.3_Missense_Mutation_p.S1497F|KDM5C_ENST00000404049.3_Missense_Mutation_p.S1540F	NM_001282622.1|NM_004187.3	NP_001269551.1|NP_004178.2	P41229	KDM5C_HUMAN	lysine (K)-specific demethylase 5C	1541					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2)	82						AGTCAGAGTGGAGAAAGGGGC	0.652			"N, F, S"		clear cell renal carcinoma								14	10					0	0	1	0	0	A	53222210	G	A	53222210	3	1	81	1	0	0	0	0	1	0	0	0	8178	1174	41	2	162	2	KDM5C	23	53222210	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	105128	53222210	102048350	15154	18770											
KDM5C	8242	broad.mit.edu	37	X	53230839	53230839	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:53230839C>T	ENST00000452825.3	-	12	2285	c.1753G>A	c.(1753-1755)Gct>Act	p.A585T	KDM5C_ENST00000375401.3_Missense_Mutation_p.A652T|KDM5C_ENST00000465402.1_5'UTR|KDM5C_ENST00000375379.3_Missense_Mutation_p.A652T|KDM5C_ENST00000375383.3_Missense_Mutation_p.A611T|KDM5C_ENST00000404049.3_Missense_Mutation_p.A651T	NM_001146702.1	NP_001140174.1	P41229	KDM5C_HUMAN	lysine (K)-specific demethylase 5C	652	JmjC.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2)	82						GGGCAGGCAGCCATCTTGCAG	0.582			"N, F, S"		clear cell renal carcinoma								17	37					0	0	1	0	0	T	53230839	C	T	53230839	3	4	81	1	0	0	0	0	1	0	0	0	8178	739	26	2	2878	2	KDM5C	23	53230839	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	8629	53230839	102039721	15155	18771											
KDM5C	8242	broad.mit.edu	37	X	53239948	53239948	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:53239948T>A	ENST00000452825.3	-	9	1824	c.1292A>T	c.(1291-1293)aAg>aTg	p.K431M	KDM5C_ENST00000375401.3_Missense_Mutation_p.K498M|KDM5C_ENST00000375379.3_Missense_Mutation_p.K498M|KDM5C_ENST00000375383.3_Missense_Mutation_p.K457M|KDM5C_ENST00000404049.3_Missense_Mutation_p.K497M	NM_001146702.1	NP_001140174.1	P41229	KDM5C_HUMAN	lysine (K)-specific demethylase 5C	498					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding	p.K498R(2)|p.K431R(1)		autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2)	82						CCAGGGCACCTTCATGCCAGA	0.507			"N, F, S"		clear cell renal carcinoma								7	39					0	0	1	0	0	A	53239948	T	A	53239948	3	1	81	1	0	0	0	0	1	0	0	0	8178	1609	56	5	3351	5	KDM5C	23	53239948	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	9109	53239948	102030612	15156	18772											
KDM5C	8242	broad.mit.edu	37	X	53240002	53240002	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:53240002G>A	ENST00000452825.3	-	9	1770	c.1238C>T	c.(1237-1239)cCg>cTg	p.P413L	KDM5C_ENST00000375401.3_Missense_Mutation_p.P480L|KDM5C_ENST00000375379.3_Missense_Mutation_p.P480L|KDM5C_ENST00000375383.3_Missense_Mutation_p.P439L|KDM5C_ENST00000404049.3_Missense_Mutation_p.P479L	NM_001146702.1	NP_001140174.1	P41229	KDM5C_HUMAN	lysine (K)-specific demethylase 5C	480					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2)	82						TTCCAACACCGGCATCACATT	0.488			"N, F, S"		clear cell renal carcinoma								5	53					0	0	1	0	0	A	53240002	G	A	53240002	3	1	81	1	0	0	0	0	1	0	0	0	8178	1116	39	1	3405	1	KDM5C	23	53240002	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	54	53240002	102030558	15157	18773											
KDM5C	8242	broad.mit.edu	37	X	53241017	53241017	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:53241017G>A	ENST00000452825.3	-	7	1525	c.993C>T	c.(991-993)ggC>ggT	p.G331G	KDM5C_ENST00000375401.3_Silent_p.G398G|KDM5C_ENST00000375379.3_Silent_p.G398G|KDM5C_ENST00000375383.3_Silent_p.G357G|KDM5C_ENST00000404049.3_Silent_p.G397G	NM_001146702.1	NP_001140174.1	P41229	KDM5C_HUMAN	lysine (K)-specific demethylase 5C	398					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2)	82						CGGCCATCTCGCCAAAGCTCT	0.522			"N, F, S"		clear cell renal carcinoma								11	10					0	0	1	0	0	A	53241017	G	A	53241017	2	1	81	1	0	0	0	0	0	0	0	1	8178	1074	38	1		1	KDM5C	23	53241017	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1015	53241017	102029543	15158	18774											
IQSEC2	23096	broad.mit.edu	37	X	53277913	53277913	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:53277913C>A	ENST00000396435.3	-	6	2649	c.2449G>T	c.(2449-2451)Gac>Tac	p.D817Y	IQSEC2_ENST00000375365.2_Missense_Mutation_p.D612Y|IQSEC2_ENST00000375368.5_Missense_Mutation_p.D807Y	NM_001111125.2	NP_001104595.1	Q5JU85	IQEC2_HUMAN	IQ motif and Sec7 domain 2	807	SEC7.				regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(4)|skin(1)	29						TCCAACACGTCTCTGTTGAAC	0.602													5	58					0.0215528	0.0221217	1	1	0	A	53277913	C	A	53277913	3	1	81	1	0	0	0	0	1	0	0	0	7862	913	32	4	2057	4	IQSEC2	23	53277913	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	36896	53277913	101992647	15159	18775											
IQSEC2	23096	broad.mit.edu	37	X	53285038	53285038	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:53285038G>A	ENST00000396435.3	-	3	1143	c.943C>T	c.(943-945)Cgc>Tgc	p.R315C	IQSEC2_ENST00000375365.2_Missense_Mutation_p.R110C|IQSEC2_ENST00000375368.5_Missense_Mutation_p.R305C	NM_001111125.2	NP_001104595.1	Q5JU85	IQEC2_HUMAN	IQ motif and Sec7 domain 2	305					regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(4)|skin(1)	29						GCCTTGGAGCGCTTTATCTCC	0.632													14	17					0	0	1	0	0	A	53285038	G	A	53285038	3	1	81	1	0	0	0	0	1	0	0	0	7862	1087	38	1	3575	1	IQSEC2	23	53285038	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	7125	53285038	101985522	15160	18776											
SMC1A	8243	broad.mit.edu	37	X	53423221	53423221	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:53423221G>A	ENST00000322213.4	-	18	2915	c.2788C>T	c.(2788-2790)Cta>Tta	p.L930L		NM_006306.2	NP_006297.2	Q14683	SMC1A_HUMAN	structural maintenance of chromosomes 1A	930					cell cycle checkpoint|cell division|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic sister chromatid cohesion|mitotic spindle organization|negative regulation of DNA endoreduplication|nuclear mRNA splicing, via spliceosome|response to radiation|signal transduction in response to DNA damage	cohesin core heterodimer|condensed chromosome kinetochore|condensed nuclear chromosome|cytoplasm|meiotic cohesin complex|nucleoplasm	ATP binding|chromatin binding|microtubule motor activity|protein heterodimerization activity			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(8)|ovary(5)|upper_aerodigestive_tract(2)	49						CAGGCCTGTAGCAAGTTGTGA	0.488													25	41					0	0	1	0	0	A	53423221	G	A	53423221	2	1	81	1	0	0	0	0	0	0	0	1	14835	962	34	2		2	SMC1A	23	53423221	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	138183	53423221	101847339	15161	18777											
SMC1A	8243	broad.mit.edu	37	X	53426541	53426541	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:53426541T>C	ENST00000322213.4	-	16	2659	c.2532A>G	c.(2530-2532)aaA>aaG	p.K844K		NM_006306.2	NP_006297.2	Q14683	SMC1A_HUMAN	structural maintenance of chromosomes 1A	844					cell cycle checkpoint|cell division|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic sister chromatid cohesion|mitotic spindle organization|negative regulation of DNA endoreduplication|nuclear mRNA splicing, via spliceosome|response to radiation|signal transduction in response to DNA damage	cohesin core heterodimer|condensed chromosome kinetochore|condensed nuclear chromosome|cytoplasm|meiotic cohesin complex|nucleoplasm	ATP binding|chromatin binding|microtubule motor activity|protein heterodimerization activity			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(8)|ovary(5)|upper_aerodigestive_tract(2)	49						CATTTTCATCTTTTTTCACTG	0.383													18	66					0	0	1	0	0	C	53426541	T	C	53426541	2	2	81	1	0	0	0	0	0	0	0	1	14835	1606	56	3		3	SMC1A	23	53426541	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	3320	53426541	101844019	15162	18778											
SMC1A	8243	broad.mit.edu	37	X	53440256	53440256	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:53440256C>T	ENST00000322213.4	-	4	668	c.541G>A	c.(541-543)Gac>Aac	p.D181N	SMC1A_ENST00000375340.6_Intron	NM_006306.2	NP_006297.2	Q14683	SMC1A_HUMAN	structural maintenance of chromosomes 1A	181					cell cycle checkpoint|cell division|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic sister chromatid cohesion|mitotic spindle organization|negative regulation of DNA endoreduplication|nuclear mRNA splicing, via spliceosome|response to radiation|signal transduction in response to DNA damage	cohesin core heterodimer|condensed chromosome kinetochore|condensed nuclear chromosome|cytoplasm|meiotic cohesin complex|nucleoplasm	ATP binding|chromatin binding|microtubule motor activity|protein heterodimerization activity			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(8)|ovary(5)|upper_aerodigestive_tract(2)	49						AACTGTGTGTCCTCTTCAGCC	0.483													41	87					0	0	1	0	0	T	53440256	C	T	53440256	3	4	81	1	0	0	0	0	1	0	0	0	14835	855	30	2	3248	2	SMC1A	23	53440256	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	13715	53440256	101830304	15163	18779											
HUWE1	10075	broad.mit.edu	37	X	53561480	53561480	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:53561480A>C	ENST00000342160.3	-	81	13285	c.12828T>G	c.(12826-12828)atT>atG	p.I4276M	HUWE1_ENST00000262854.6_Missense_Mutation_p.I4276M			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	4276	HECT.				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						AGCTCACCTGAATAGAGTTGG	0.463													16	50					0	0	1	0	0	C	53561480	A	C	53561480	3	2	81	1	0	0	0	0	1	0	0	0	7505	242	9	5	308	5	HUWE1	23	53561480	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	121224	53561480	101709080	15164	18780											
HUWE1	10075	broad.mit.edu	37	X	53612074	53612074	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:53612074G>A	ENST00000342160.3	-	39	5356	c.4899C>T	c.(4897-4899)agC>agT	p.S1633S	HUWE1_ENST00000218328.8_Silent_p.S1633S|HUWE1_ENST00000262854.6_Silent_p.S1633S			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	1633	WWE.				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						TGCTATTGTTGCTTGCACTGT	0.458													60	71					0	0	1	0	0	A	53612074	G	A	53612074	2	1	81	1	0	0	0	0	0	0	0	1	7505	1310	46	2		2	HUWE1	23	53612074	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	50594	53612074	101658486	15165	18781											
HUWE1	10075	broad.mit.edu	37	X	53641542	53641542	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:53641542C>T	ENST00000342160.3	-	22	2671	c.2214G>A	c.(2212-2214)atG>atA	p.M738I	HUWE1_ENST00000218328.8_Missense_Mutation_p.M738I|HUWE1_ENST00000262854.6_Missense_Mutation_p.M738I			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	738					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						TAAAGCTCTGCATGGCCTGTA	0.473													44	73					0	0	1	0	0	T	53641542	C	T	53641542	3	4	81	1	0	0	0	0	1	0	0	0	7505	710	25	2	11158	2	HUWE1	23	53641542	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	29468	53641542	101629018	15166	18782											
HUWE1	10075	broad.mit.edu	37	X	53654813	53654813	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:53654813G>A	ENST00000342160.3	-	15	1717	c.1260C>T	c.(1258-1260)ggC>ggT	p.G420G	HUWE1_ENST00000218328.8_Silent_p.G420G|HUWE1_ENST00000262854.6_Silent_p.G420G			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	420					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						CCTGTTCATCGCCAAGAAACT	0.393													18	23					0	0	1	0	0	A	53654813	G	A	53654813	2	1	81	1	0	0	0	0	0	0	0	1	7505	1074	38	1		1	HUWE1	23	53654813	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	13271	53654813	101615747	15167	18783											
PHF8	23133	broad.mit.edu	37	X	53965633	53965633	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:53965633G>A	ENST00000338154.6	-	22	3537	c.3033C>T	c.(3031-3033)ggC>ggT	p.G1011G	PHF8_ENST00000338946.6_Silent_p.G910G|PHF8_ENST00000357988.5_Silent_p.G1047G	NM_015107.2	NP_055922.1	Q9UPP1	PHF8_HUMAN	PHD finger protein 8	1047					brain development|G1/S transition of mitotic cell cycle|negative regulation of chromatin silencing at rDNA|positive regulation of transcription from RNA polymerase I promoter|transcription, DNA-dependent	nucleolus	chromatin binding|histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	40						TCAGGATACGGCCGAGTCTCT	0.527													22	51					0	0	1	0	0	A	53965633	G	A	53965633	2	1	81	1	0	0	0	0	0	0	0	1	11888	1190	42	2		2	PHF8	23	53965633	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	310820	53965633	101304927	15168	18784											
PHF8	23133	broad.mit.edu	37	X	54011402	54011402	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:54011402G>A	ENST00000338154.6	-	18	2892	c.2388C>T	c.(2386-2388)aaC>aaT	p.N796N	PHF8_ENST00000338946.6_Silent_p.N695N|PHF8_ENST00000357988.5_Silent_p.N832N|PHF8_ENST00000322659.8_Silent_p.N779N	NM_015107.2	NP_055922.1	Q9UPP1	PHF8_HUMAN	PHD finger protein 8	832	Ser-rich.				brain development|G1/S transition of mitotic cell cycle|negative regulation of chromatin silencing at rDNA|positive regulation of transcription from RNA polymerase I promoter|transcription, DNA-dependent	nucleolus	chromatin binding|histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	40						CCAGACTGGCGTTCTCCTCCT	0.587													36	65					0	0	1	0	0	A	54011402	G	A	54011402	2	1	81	1	0	0	0	0	0	0	0	1	11888	1136	40	1		1	PHF8	23	54011402	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	45769	54011402	101259158	15169	18785											
PHF8	23133	broad.mit.edu	37	X	54012203	54012203	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:54012203T>C	ENST00000322659.8	-	18	2228	c.2053A>G	c.(2053-2055)Acc>Gcc	p.T685A	PHF8_ENST00000338946.6_Intron|PHF8_ENST00000357988.5_Intron|PHF8_ENST00000338154.6_Intron	NM_001184898.1	NP_001171827.1	Q9UPP1	PHF8_HUMAN	PHD finger protein 8	739					brain development|G1/S transition of mitotic cell cycle|negative regulation of chromatin silencing at rDNA|positive regulation of transcription from RNA polymerase I promoter|transcription, DNA-dependent	nucleolus	chromatin binding|histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	40						GGAGCGGGGGTTGCTGTCTGA	0.512													9	19					0	0	1	0	0	C	54012203	T	C	54012203	3	2	81	1	0	0	0	0	1	0	0	0	11888	1725	60	3	1120	3	PHF8	23	54012203	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	801	54012203	101258357	15170	18786											
WNK3	65267	broad.mit.edu	37	X	54224904	54224904	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:54224904T>C	ENST00000354646.2	-	24	5694	c.5256A>G	c.(5254-5256)gtA>gtG	p.V1752V	WNK3_ENST00000375159.2_Silent_p.V1752V|WNK3_ENST00000375169.3_Silent_p.V1695V	NM_020922.4	NP_065973.2	Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3	1695					intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation	adherens junction|tight junction	ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity			autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						CTACCCACTGTACTGGATACC	0.493													4	43					0	0	1	0	0	C	54224904	T	C	54224904	2	2	81	1	0	0	0	0	0	0	0	1	17439	1625	57	3		3	WNK3	23	54224904	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	212701	54224904	101045656	15171	18787											
WNK3	65267	broad.mit.edu	37	X	54319604	54319604	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:54319604G>A	ENST00000354646.2	-	9	2288	c.1850C>T	c.(1849-1851)tCt>tTt	p.S617F	WNK3_ENST00000375159.2_Missense_Mutation_p.S617F|WNK3_ENST00000375169.3_Missense_Mutation_p.S617F	NM_020922.4	NP_065973.2	Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3	617					intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation	adherens junction|tight junction	ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity			autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						TAGTTGCTGAGATGAATAAAT	0.383													6	16					0	0	1	0	0	A	54319604	G	A	54319604	3	1	81	1	0	0	0	0	1	0	0	0	17439	942	33	2	3616	2	WNK3	23	54319604	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	94700	54319604	100950956	15172	18788											
WNK3	65267	broad.mit.edu	37	X	54321078	54321078	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:54321078G>A	ENST00000354646.2	-	8	2039	c.1601C>T	c.(1600-1602)aCt>aTt	p.T534I	WNK3_ENST00000375159.2_Missense_Mutation_p.T534I|WNK3_ENST00000375169.3_Missense_Mutation_p.T534I	NM_020922.4	NP_065973.2	Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3	534					intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation	adherens junction|tight junction	ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity			autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						TTCAGCCCCAGTTTGCTGAGC	0.473													12	19					0	0	1	0	0	A	54321078	G	A	54321078	3	1	81	1	0	0	0	0	1	0	0	0	17439	1029	36	2	3869	2	WNK3	23	54321078	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1474	54321078	100949482	15173	18789											
WNK3	65267	broad.mit.edu	37	X	54359998	54359998	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:54359998C>T	ENST00000354646.2	-	2	547	c.109G>A	c.(109-111)Gct>Act	p.A37T	WNK3_ENST00000375159.2_Missense_Mutation_p.A37T|WNK3_ENST00000375169.3_Missense_Mutation_p.A37T	NM_020922.4	NP_065973.2	Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3	37					intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation	adherens junction|tight junction	ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity			autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						TTTAGTCTAGCTTCTACTGTC	0.428													55	75					0	0	1	0	0	T	54359998	C	T	54359998	3	4	81	1	0	0	0	0	1	0	0	0	17439	797	28	2	5385	2	WNK3	23	54359998	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	38920	54359998	100910562	15174	18790											
FGD1	2245	broad.mit.edu	37	X	54472773	54472773	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:54472773G>A	ENST00000375135.3	-	18	3388	c.2655C>T	c.(2653-2655)gaC>gaT	p.D885D		NM_004463.2	NP_004454.2	P98174	FGD1_HUMAN	FYVE, RhoGEF and PH domain containing 1	885	PH 2.				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|organ morphogenesis|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|nucleus|plasma membrane|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						CATGCCTTCTGTCAGGCCGCT	0.642													9	18					0	0	1	0	0	A	54472773	G	A	54472773	2	1	81	1	0	0	0	0	0	0	0	1	5865	1368	48	2		2	FGD1	23	54472773	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	112775	54472773	100797787	15175	18791											
TRO	7216	broad.mit.edu	37	X	54955239	54955239	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:54955239C>T	ENST00000173898.7	+	12	2194	c.2082C>T	c.(2080-2082)ggC>ggT	p.G694G	TRO_ENST00000319167.8_Intron|TRO_ENST00000375022.4_Intron|TRO_ENST00000420798.2_Silent_p.G225G|TRO_ENST00000375041.2_Silent_p.G297G|TRO_ENST00000399736.1_Intron	NM_001039705.2	NP_001034794.1	Q12816	TROP_HUMAN	trophinin	694					embryo implantation|homophilic cell adhesion	integral to plasma membrane				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						AAGAGTTAGGCGATGATGCTC	0.517													8	13					0	0	1	0	0	T	54955239	C	T	54955239	2	4	81	1	0	0	0	0	0	0	0	1	16635	755	27	1		1	TRO	23	54955239	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	482466	54955239	100315321	15176	18792											
PFKFB1	5207	broad.mit.edu	37	X	54960307	54960307	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:54960307C>T	ENST00000375006.3	-	13	1373	c.1303G>A	c.(1303-1305)Gaa>Aaa	p.E435K	PFKFB1_ENST00000545676.1_Missense_Mutation_p.E370K|PFKFB1_ENST00000374992.2_Missense_Mutation_p.E235K	NM_002625.2	NP_002616.2	P16118	F261_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1	435	Fructose-2,6-bisphosphatase.				energy reserve metabolic process|fructose 2,6-bisphosphate metabolic process|gluconeogenesis|glycolysis|intracellular protein kinase cascade	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 complex	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)	24						TAGATGGATTCCACTTTGCAG	0.567													7	16					0	0	1	0	0	T	54960307	C	T	54960307	3	4	81	1	0	0	0	0	1	0	0	0	11808	864	30	2	120	2	PFKFB1	23	54960307	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	5068	54960307	100310253	15177	18793											
PFKFB1	5207	broad.mit.edu	37	X	54975618	54975618	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:54975618C>T	ENST00000375006.3	-	9	953	c.883G>A	c.(883-885)Ggc>Agc	p.G295S	PFKFB1_ENST00000545676.1_Missense_Mutation_p.G230S|PFKFB1_ENST00000374992.2_Intron	NM_002625.2	NP_002616.2	P16118	F261_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1	295	Fructose-2,6-bisphosphatase.				energy reserve metabolic process|fructose 2,6-bisphosphate metabolic process|gluconeogenesis|glycolysis|intracellular protein kinase cascade	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 complex	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)	24						GAGCTGATGCCCTGGGACTGA	0.572													14	12					0	0	1	0	0	T	54975618	C	T	54975618	3	4	81	1	0	0	0	0	1	0	0	0	11808	623	22	2	556	2	PFKFB1	23	54975618	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	15311	54975618	100294942	15178	18794											
PFKFB1	5207	broad.mit.edu	37	X	54984796	54984796	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:54984796C>A	ENST00000375006.3	-	6	530		c.e6-1		PFKFB1_ENST00000545676.1_Splice_Site|PFKFB1_ENST00000374992.2_Intron	NM_002625.2	NP_002616.2	P16118	F261_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1						energy reserve metabolic process|fructose 2,6-bisphosphate metabolic process|gluconeogenesis|glycolysis|intracellular protein kinase cascade	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 complex	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)	24						TGAAAAACACCTATAAAAGAA	0.408													16	37					4.14922e-12	5.17332e-12	1	1	0	A	54984796	C	A	54984796	5	1	81	1	0	0	0	0	0	0	1	0	11808	695	24	4	992	4	PFKFB1	23	54984796	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	9178	54984796	100285764	15179	18795											
PFKFB1	5207	broad.mit.edu	37	X	54985339	54985339	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:54985339G>T	ENST00000375006.3	-	5	474	c.404C>A	c.(403-405)aCt>aAt	p.T135N	PFKFB1_ENST00000545676.1_Missense_Mutation_p.T70N|PFKFB1_ENST00000374992.2_Missense_Mutation_p.T113N	NM_002625.2	NP_002616.2	P16118	F261_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1	135	6-phosphofructo-2-kinase.				energy reserve metabolic process|fructose 2,6-bisphosphate metabolic process|gluconeogenesis|glycolysis|intracellular protein kinase cascade	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 complex	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)	24						TTCTCTGGTAGTGTTGGTGGC	0.453													7	180					8.12818e-05	8.94031e-05	1	1	0	T	54985339	G	T	54985339	3	4	81	1	0	0	0	0	1	0	0	0	11808	1029	36	4	1051	4	PFKFB1	23	54985339	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	543	54985339	100285221	15180	18796											
APEX2	27301	broad.mit.edu	37	X	55026892	55026892	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:55026892C>T	ENST00000374987.3	+	1	103	c.37C>T	c.(37-39)Cgg>Tgg	p.R13W	APEX2_ENST00000471758.1_3'UTR	NM_014481.2	NP_055296.2	Q9UBZ4	APEX2_HUMAN	APEX nuclease (apurinic/apyrimidinic endonuclease) 2	13					cell cycle|DNA recombination|DNA repair	nucleus	DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|endonuclease activity|exonuclease activity|zinc ion binding			breast(1)|endometrium(8)|large_intestine(4)|lung(6)|prostate(1)|urinary_tract(1)	21						CAATGGGATTCGGAGACCCCT	0.602								Other BER factors					4	6					0	0	1	0	0	T	55026892	C	T	55026892	3	4	81	1	0	0	0	0	1	0	0	0	766	875	31	1	39	1	APEX2	23	55026892	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	41553	55026892	100243668	15181	18797											
MAGEH1	28986	broad.mit.edu	37	X	55478845	55478845	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:55478845C>T	ENST00000342972.1	+	1	308	c.38C>T	c.(37-39)gCg>gTg	p.A13V		NM_014061.3	NP_054780.2	Q9H213	MAGH1_HUMAN	melanoma antigen family H, 1	13	MAGE.				apoptosis					central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|skin(2)	15						CGCCGTAATGCGAGAGCCGCA	0.597													4	4					0	0	1	0	0	T	55478845	C	T	55478845	3	4	81	1	0	0	0	0	1	0	0	0	9238	768	27	1	40	1	MAGEH1	23	55478845	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	451953	55478845	99791715	15182	18798											
USP51	158880	broad.mit.edu	37	X	55514742	55514742	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:55514742G>T	ENST00000500968.3	-	2	713	c.631C>A	c.(631-633)Ctg>Atg	p.L211M	USP51_ENST00000586165.1_Intron	NM_201286.3	NP_958443.1	Q70EK9	UBP51_HUMAN	ubiquitin specific peptidase 51	211					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30						ATCAACCTCAGGTTCTTCTGC	0.502													16	23					1.5739e-10	1.93127e-10	1	1	0	T	55514742	G	T	55514742	3	4	81	1	0	0	0	0	1	0	0	0	17143	991	35	4	1508	4	USP51	23	55514742	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	35897	55514742	99755818	15183	18799											
USP51	158880	broad.mit.edu	37	X	55515233	55515233	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:55515233G>A	ENST00000500968.3	-	2	222	c.140C>T	c.(139-141)gCg>gTg	p.A47V	USP51_ENST00000586165.1_5'UTR	NM_201286.3	NP_958443.1	Q70EK9	UBP51_HUMAN	ubiquitin specific peptidase 51	47					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30						TCTCGAAGACGCCTTCGTAGC	0.667													9	13					0	0	1	0	0	A	55515233	G	A	55515233	3	1	81	1	0	0	0	0	1	0	0	0	17143	1087	38	1	1999	1	USP51	23	55515233	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	491	55515233	99755327	15184	18800											
FOXR2	139628	broad.mit.edu	37	X	55650155	55650155	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:55650155A>C	ENST00000339140.3	+	1	323	c.11A>C	c.(10-12)aAa>aCa	p.K4T		NM_198451.3	NP_940853.1	Q6PJQ5	FOXR2_HUMAN	forkhead box R2	4					embryo development|organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	19						ATGGACTTAAAACTAAAAGAC	0.433													6	48					0	0	1	0	0	C	55650155	A	C	55650155	3	2	81	1	0	0	0	0	1	0	0	0	6066	14	1	5	13	5	FOXR2	23	55650155	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	134922	55650155	99620405	15185	18801											
FOXR2	139628	broad.mit.edu	37	X	55650714	55650714	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:55650714G>A	ENST00000339140.3	+	1	882	c.570G>A	c.(568-570)tgG>tgA	p.W190*		NM_198451.3	NP_940853.1	Q6PJQ5	FOXR2_HUMAN	forkhead box R2	190					embryo development|organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	19						AGAAGTCCTGGCAAAGGCCCC	0.502													8	30					0	0	1	0	0	A	55650714	G	A	55650714	4	1	81	1	0	0	0	0	0	1	0	0	6066	1212	42	2	572	2	FOXR2	23	55650714	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	559	55650714	99619846	15186	18802											
RRAGB	10325	broad.mit.edu	37	X	55757807	55757807	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:55757807T>G	ENST00000374941.4	+	5	893	c.304T>G	c.(304-306)Ttc>Gtc	p.F102V	RRAGB_ENST00000262850.7_Missense_Mutation_p.F130V	NM_006064.4	NP_006055.3	Q5VZM2	RRAGB_HUMAN	Ras-related GTP binding B	130					cellular protein localization|cellular response to amino acid stimulus|positive regulation of TOR signaling cascade|signal transduction	Golgi apparatus|lysosome|nucleus	GTP binding|protein binding			breast(1)|endometrium(3)|large_intestine(5)|lung(3)|pancreas(1)|prostate(1)	14						GCAAGACACCTTCATGGAAAA	0.373													5	25					0	0	1	0	0	G	55757807	T	G	55757807	3	3	81	1	0	0	0	0	1	0	0	0	13725	1609	56	5	410	5	RRAGB	23	55757807	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	107093	55757807	99512753	15187	18803											
KLF8	11279	broad.mit.edu	37	X	56291821	56291821	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:56291821C>A	ENST00000374928.3	+	4	776	c.290C>A	c.(289-291)cCt>cAt	p.P97H	KLF8_ENST00000468660.1_Missense_Mutation_p.P97H	NM_001159296.1	NP_001152768.1	O95600	KLF8_HUMAN	Kruppel-like factor 8	97					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(4)|large_intestine(6)|lung(5)|ovary(1)	16						CCCAAGGCTCCTCTCCAGCCT	0.532													4	32					0.150653	0.152522	1	1	0	A	56291821	C	A	56291821	3	1	81	1	0	0	0	0	1	0	0	0	8395	681	24	4	300	4	KLF8	23	56291821	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	534014	56291821	98978739	15188	18804											
UBQLN2	29978	broad.mit.edu	37	X	56590893	56590893	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:56590893C>T	ENST00000338222.5	+	1	868	c.587C>T	c.(586-588)tCg>tTg	p.S196L		NM_013444.3	NP_038472.2	Q9UHD9	UBQL2_HUMAN	ubiquilin 2	196						cytoplasm|nucleus|plasma membrane	binding			breast(2)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)	21						AGCATGCTTTCGAATCCCGAT	0.473													35	44					0	0	1	0	0	T	56590893	C	T	56590893	3	4	81	1	0	0	0	0	1	0	0	0	16958	893	31	1	589	1	UBQLN2	23	56590893	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	299072	56590893	98679667	15189	18805											
FAAH2	158584	broad.mit.edu	37	X	57337037	57337037	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:57337037C>T	ENST00000374900.4	+	3	407	c.287C>T	c.(286-288)gCg>gTg	p.A96V		NM_174912.3	NP_777572.2	Q6GMR7	FAAH2_HUMAN	fatty acid amide hydrolase 2	96						integral to membrane	carbon-nitrogen ligase activity, with glutamine as amido-N-donor|hydrolase activity			endometrium(2)|large_intestine(4)|lung(10)|ovary(3)|upper_aerodigestive_tract(3)	22						TTTGAGGAAGCGATGAAGGAG	0.383										HNSCC(52;0.14)			18	32					0	0	1	0	0	T	57337037	C	T	57337037	3	4	81	1	0	0	0	0	1	0	0	0	5385	768	27	1	297	1	FAAH2	23	57337037	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	746144	57337037	97933523	15190	18806											
ZXDA	7789	broad.mit.edu	37	X	57936083	57936083	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:57936083G>A	ENST00000358697.4	-	1	984	c.772C>T	c.(772-774)Ctg>Ttg	p.L258L		NM_007156.4	NP_009087.1	P98168	ZXDA_HUMAN	zinc finger, X-linked, duplicated A	258					positive regulation of transcription, DNA-dependent	nucleus	C2H2 zinc finger domain binding|identical protein binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|prostate(2)|skin(1)	37						CCAGAGCCCAGCAGTCCGCGG	0.721													5	6					0	0	1	0	0	A	57936083	G	A	57936083	2	1	81	1	0	0	0	0	0	0	0	1	18290	962	34	2		2	ZXDA	23	57936083	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	599046	57936083	97334477	15191	18807											
ARHGEF9	23229	broad.mit.edu	37	X	62875507	62875507	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:62875507C>A	ENST00000253401.6	-	8	1967	c.1167G>T	c.(1165-1167)aaG>aaT	p.K389N	ARHGEF9_ENST00000495564.1_5'UTR|ARHGEF9_ENST00000437457.2_Missense_Mutation_p.K336N|ARHGEF9_ENST00000433323.2_Missense_Mutation_p.K116N|ARHGEF9_ENST00000374878.1_Missense_Mutation_p.K387N|ARHGEF9_ENST00000374870.4_Missense_Mutation_p.K287N|ARHGEF9_ENST00000374872.1_Missense_Mutation_p.K368N	NM_015185.2	NP_056000.1	O43307	ARHG9_HUMAN	Cdc42 guanine nucleotide exchange factor (GEF) 9	389	PH.				apoptosis|induction of apoptosis by extracellular signals|ion transmembrane transport|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol	Rho guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|skin(1)	35						TAAAGGCATTCTTCATGCTGA	0.443													66	98					1.17253e-29	1.56222e-29	1	1	0	A	62875507	C	A	62875507	3	1	81	1	0	0	0	0	1	0	0	0	909	912	32	4	395	4	ARHGEF9	23	62875507	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	4939424	62875507	92395053	15192	18808											
MTMR8	55613	broad.mit.edu	37	X	63444766	63444766	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:63444766G>A	ENST00000453546.1	-	10	1979	c.1890C>T	c.(1888-1890)ctC>ctT	p.L630L	ASB12_ENST00000396130.2_Silent_p.L246L|ASB12_ENST00000362002.2_Silent_p.L255L			Q96EF0	MTMR8_HUMAN	myotubularin related protein 8	0						nuclear envelope	protein tyrosine phosphatase activity	p.0?(2)		breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|skin(3)	37						GGTCAAGGGAGAGAGATGGAA	0.507													8	20					0	0	1	0	0	A	63444766	G	A	63444766	2	1	81	1	0	0	0	0	0	0	0	1	9997	929	33	2		2	MTMR8	23	63444766	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	569259	63444766	91825794	15193	18809											
MTMR8	55613	broad.mit.edu	37	X	63445176	63445176	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:63445176G>T	ENST00000453546.1	-	10	1569	c.1480C>A	c.(1480-1482)Ctg>Atg	p.L494M	ASB12_ENST00000396130.2_Missense_Mutation_p.L110M|ASB12_ENST00000362002.2_Missense_Mutation_p.L119M			Q96EF0	MTMR8_HUMAN	myotubularin related protein 8	310	Myotubularin phosphatase.					nuclear envelope	protein tyrosine phosphatase activity	p.0?(2)|p.L119M(1)|p.L110M(1)|p.L494M(1)		breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|skin(3)	37						ACACAGTCCAGATGGCCATGA	0.532													11	7					4.68919e-08	5.54405e-08	1	1	0	T	63445176	G	T	63445176	3	4	81	1	0	0	0	0	1	0	0	0	9997	933	33	4		4	MTMR8	23	63445176	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	410	63445176	91825384	15194	18810											
MTMR8	55613	broad.mit.edu	37	X	63569916	63569916	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:63569916G>T	ENST00000374852.3	-	5	570	c.503C>A	c.(502-504)cCt>cAt	p.P168H	MTMR8_ENST00000453546.1_Missense_Mutation_p.P168H	NM_017677.3	NP_060147.2	Q96EF0	MTMR8_HUMAN	myotubularin related protein 8	168	Myotubularin phosphatase.					nuclear envelope	protein tyrosine phosphatase activity	p.0?(1)		breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|skin(3)	37						AACAGATTTAGGAACCACTAT	0.348													8	114					0.00448238	0.00470627	1	1	0	T	63569916	G	T	63569916	3	4	81	1	0	0	0	0	1	0	0	0	9997	1000	35	4	1651	4	MTMR8	23	63569916	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	124740	63569916	91700644	15195	18811											
ZC3H12B	340554	broad.mit.edu	37	X	64708943	64708943	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:64708943C>T	ENST00000338957.4	+	1	329	c.262C>T	c.(262-264)Cgt>Tgt	p.R88C	ZC3H12B_ENST00000423889.3_Missense_Mutation_p.R77C	NM_001010888.3	NP_001010888.3	Q5HYM0	ZC12B_HUMAN	zinc finger CCCH-type containing 12B	77							endonuclease activity|nucleic acid binding|zinc ion binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CTGCCTAGATCGTCCAAGTTT	0.502													30	57					0	0	1	0	0	T	64708943	C	T	64708943	3	4	81	1	0	0	0	0	1	0	0	0	17621	884	31	1	264	1	ZC3H12B	23	64708943	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1139027	64708943	90561617	15196	18812											
LAS1L	81887	broad.mit.edu	37	X	64743531	64743531	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:64743531G>T	ENST00000374811.3	-	11	1397	c.1357C>A	c.(1357-1359)Ctg>Atg	p.L453M	LAS1L_ENST00000374804.5_Missense_Mutation_p.L394M|LAS1L_ENST00000312391.8_3'UTR|LAS1L_ENST00000374807.5_Missense_Mutation_p.L436M	NM_031206.4	NP_112483.1	Q9Y4W2	LAS1L_HUMAN	LAS1-like (S. cerevisiae)	453						MLL1 complex|nucleolus	protein binding			breast(4)|endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	33						CAGTTGAACAGCCTCCAGCCC	0.592													7	9					8.12818e-05	8.94031e-05	1	1	0	T	64743531	G	T	64743531	3	4	81	1	0	0	0	0	1	0	0	0	8675	962	34	4	863	4	LAS1L	23	64743531	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	34588	64743531	90527029	15197	18813											
HEPH	9843	broad.mit.edu	37	X	65428014	65428014	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:65428014C>T	ENST00000519389.1	+	15	2830	c.2651C>T	c.(2650-2652)gCc>gTc	p.A884V	HEPH_ENST00000441993.2_Missense_Mutation_p.A833V|HEPH_ENST00000419594.1_Missense_Mutation_p.A641V|HEPH_ENST00000336279.5_Missense_Mutation_p.A563V|HEPH_ENST00000343002.2_Missense_Mutation_p.A830V|HEPH_ENST00000374727.3_Missense_Mutation_p.A833V			Q9BQS7	HEPH_HUMAN	hephaestin	830	Plastocyanin-like 5.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity	p.A830V(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						AAGAATAATGCCAGCCGCCCC	0.413													8	16					0	0	1	0	0	T	65428014	C	T	65428014	3	4	81	1	0	0	0	0	1	0	0	0	7095	739	26	2	2709	2	HEPH	23	65428014	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	684483	65428014	89842546	15198	18814											
AR	367	broad.mit.edu	37	X	66765080	66765080	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:66765080G>A	ENST00000374690.3	+	1	616	c.92G>A	c.(91-93)cGc>cAc	p.R31H	AR_ENST00000396044.3_Missense_Mutation_p.R31H|AR_ENST00000513847.1_3'UTR|AR_ENST00000504326.1_Missense_Mutation_p.R31H	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN	androgen receptor	31	Modulating.				cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport	cytoplasm|nuclear chromatin|nucleoplasm	androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624)	CAGAGCGTGCGCGAAGTGATC	0.647									Androgen Insensitivity Syndrome				15	32					0	0	1	0	0	A	66765080	G	A	66765080	3	1	81	1	0	0	0	0	1	0	0	0	833	1087	38	1	94	1	AR	23	66765080	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1337066	66765080	88505480	15199	18815											
AR	367	broad.mit.edu	37	X	66766152	66766152	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:66766152G>A	ENST00000374690.3	+	1	1688	c.1164G>A	c.(1162-1164)aaG>aaA	p.K388K	AR_ENST00000396044.3_Silent_p.K388K|AR_ENST00000513847.1_3'UTR|AR_ENST00000504326.1_Silent_p.K388K	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN	androgen receptor	386	Modulating.				cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport	cytoplasm|nuclear chromatin|nucleoplasm	androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624)	CTCGCATCAAGCTGGAGAACC	0.711									Androgen Insensitivity Syndrome				3	2					0	0	1	0	0	A	66766152	G	A	66766152	2	1	81	1	0	0	0	0	0	0	0	1	833	962	34	2		2	AR	23	66766152	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1072	66766152	88504408	15200	18816											
OPHN1	4983	broad.mit.edu	37	X	67417060	67417060	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:67417060G>T	ENST00000355520.5	-	12	1713	c.1072C>A	c.(1072-1074)Cta>Ata	p.L358I	OPHN1_ENST00000540071.1_Missense_Mutation_p.L358I	NM_002547.2	NP_002538.1	O60890	OPHN1_HUMAN	oligophrenin 1	358	PH.				axon guidance|endocytosis|filopodium assembly|small GTPase mediated signal transduction|substrate-dependent cell migration, cell extension	axon|cell junction|cytosol|dendritic spine|synapse	cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|skin(2)	31						TCCATCCATAGCCTTCTGTTA	0.478													10	55					0.00829132	0.00865729	1	1	0	T	67417060	G	T	67417060	3	4	81	1	0	0	0	0	1	0	0	0	10923	962	34	4	1388	4	OPHN1	23	67417060	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	650908	67417060	87853500	15201	18817											
YIPF6	286451	broad.mit.edu	37	X	67731767	67731767	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:67731767G>A	ENST00000462683.1	+	2	878	c.134G>A	c.(133-135)cGc>cAc	p.R45H	YIPF6_ENST00000374622.2_Intron|YIPF6_ENST00000470730.1_3'UTR	NM_173834.3	NP_776195.2	Q96EC8	YIPF6_HUMAN	Yip1 domain family, member 6	45						endoplasmic reticulum|integral to membrane				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|urinary_tract(1)	7						ATGAGATCTCGCATCCGGGAG	0.423													48	92					0	0	1	0	0	A	67731767	G	A	67731767	3	1	81	1	0	0	0	0	1	0	0	0	17542	1087	38	1	140	1	YIPF6	23	67731767	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	314707	67731767	87538793	15202	18818											
YIPF6	286451	broad.mit.edu	37	X	67741284	67741284	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:67741284G>A	ENST00000462683.1	+	5	1123	c.379G>A	c.(379-381)Gtc>Atc	p.V127I	YIPF6_ENST00000374622.2_Missense_Mutation_p.V84I	NM_173834.3	NP_776195.2	Q96EC8	YIPF6_HUMAN	Yip1 domain family, member 6	127						endoplasmic reticulum|integral to membrane				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|urinary_tract(1)	7						GTTTGTCATTGTCTGGTTTGG	0.418													9	83					0	0	1	0	0	A	67741284	G	A	67741284	3	1	81	1	0	0	0	0	1	0	0	0	17542	1377	48	2	397	2	YIPF6	23	67741284	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	9517	67741284	87529276	15203	18819											
STARD8	9754	broad.mit.edu	37	X	67937777	67937777	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:67937777C>T	ENST00000252336.6	+	5	1153	c.781C>T	c.(781-783)Cgc>Tgc	p.R261C	STARD8_ENST00000374597.3_Missense_Mutation_p.R261C|STARD8_ENST00000374599.3_Missense_Mutation_p.R341C	NM_014725.4	NP_055540.2	Q92502	STAR8_HUMAN	StAR-related lipid transfer (START) domain containing 8	261					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion	GTPase activator activity			NS(2)|breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	50						CTGTGAGGGGCGCCGGGGCTC	0.637													7	5					0	0	1	0	0	T	67937777	C	T	67937777	3	4	81	1	0	0	0	0	1	0	0	0	15319	768	27	1	1043	1	STARD8	23	67937777	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	196493	67937777	87332783	15204	18820											
STARD8	9754	broad.mit.edu	37	X	67939137	67939137	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:67939137C>T	ENST00000252336.6	+	6	1918	c.1546C>T	c.(1546-1548)Cgg>Tgg	p.R516W	STARD8_ENST00000374597.3_Missense_Mutation_p.R516W|STARD8_ENST00000374599.3_Missense_Mutation_p.R596W	NM_014725.4	NP_055540.2	Q92502	STAR8_HUMAN	StAR-related lipid transfer (START) domain containing 8	516					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion	GTPase activator activity			NS(2)|breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	50						GGAGATCAACCGGCAGTTTGC	0.602													8	26					0	0	1	0	0	T	67939137	C	T	67939137	3	4	81	1	0	0	0	0	1	0	0	0	15319	643	23	1	1812	1	STARD8	23	67939137	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1360	67939137	87331423	15205	18821											
EFNB1	1947	broad.mit.edu	37	X	68060409	68060409	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:68060409A>G	ENST00000204961.4	+	5	1733	c.953A>G	c.(952-954)gAg>gGg	p.E318G		NM_004429.4	NP_004420.1	P98172	EFNB1_HUMAN	ephrin-B1	318					cell adhesion|cell-cell signaling	integral to plasma membrane|soluble fraction|synapse	ephrin receptor binding			breast(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)	22						CCCCACTATGAGAAGGTGAGT	0.612													10	15					0	0	1	0	0	G	68060409	A	G	68060409	3	3	81	1	0	0	0	0	1	0	0	0	4981	304	11	3	971	3	EFNB1	23	68060409	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	121272	68060409	87210151	15206	18822											
OTUD6A	139562	broad.mit.edu	37	X	69282892	69282892	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:69282892G>A	ENST00000338352.2	+	1	552	c.518G>A	c.(517-519)cGc>cAc	p.R173H		NM_207320.1	NP_997203.1	Q7L8S5	OTU6A_HUMAN	OTU domain containing 6A	173	OTU.									autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(3)|urinary_tract(1)	23						CTGCGCTGCCGCACCGCCAGC	0.602													4	13					0	0	1	0	0	A	69282892	G	A	69282892	3	1	81	1	0	0	0	0	1	0	0	0	11363	1087	38	1	520	1	OTUD6A	23	69282892	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1222483	69282892	85987668	15207	18823											
AWAT1	158833	broad.mit.edu	37	X	69459754	69459754	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:69459754C>A	ENST00000374521.3	+	6	843	c.802C>A	c.(802-804)Ctg>Atg	p.L268M		NM_001013579.2	NP_001013597.1	Q58HT5	AWAT1_HUMAN	acyl-CoA wax alcohol acyltransferase 1	268					lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	long-chain-alcohol O-fatty-acyltransferase activity			breast(2)|central_nervous_system(1)|large_intestine(4)|lung(3)|ovary(4)|skin(1)	15						CACTGGGCTCCTGCCATACTC	0.537													22	28					3.10358e-05	3.46628e-05	1	1	0	A	69459754	C	A	69459754	3	1	81	1	0	0	0	0	1	0	0	0	1232	680	24	4	824	4	AWAT1	23	69459754	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	176862	69459754	85810806	15208	18824											
P2RY4	5030	broad.mit.edu	37	X	69478906	69478906	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:69478906C>T	ENST00000374519.2	-	1	748	c.569G>A	c.(568-570)cGg>cAg	p.R190Q		NM_002565.3	NP_002556.1	P51582	P2RY4_HUMAN	pyrimidinergic receptor P2Y, G-protein coupled, 4	190					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	p.R190P(1)|p.R190S(1)		cervix(2)|endometrium(2)|large_intestine(8)|lung(6)	18						CTCTTCAGGCCGAGTGGTGTC	0.572													16	27					0	0	1	0	0	T	69478906	C	T	69478906	3	4	81	1	0	0	0	0	1	0	0	0	11400	652	23	1	532	1	P2RY4	23	69478906	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	19152	69478906	85791654	15209	18825											
P2RY4	5030	broad.mit.edu	37	X	69479340	69479340	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:69479340G>T	ENST00000374519.2	-	1	314	c.135C>A	c.(133-135)gtC>gtA	p.V45V		NM_002565.3	NP_002556.1	P51582	P2RY4_HUMAN	pyrimidinergic receptor P2Y, G-protein coupled, 4	45					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			cervix(2)|endometrium(2)|large_intestine(8)|lung(6)	18						CCAGCACAAAGACAACTGCAT	0.567													5	9					0.014758	0.0152304	1	1	0	T	69479340	G	T	69479340	2	4	81	1	0	0	0	0	0	0	0	1	11400	929	33	4		4	P2RY4	23	69479340	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	434	69479340	85791220	15210	18826											
ARR3	407	broad.mit.edu	37	X	69495966	69495966	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:69495966C>T	ENST00000374495.3	+	6	278	c.180C>T	c.(178-180)ggC>ggT	p.G60G	ARR3_ENST00000307959.8_Silent_p.G60G			P36575	ARRC_HUMAN	arrestin 3, retinal (X-arrestin)	60					signal transduction|visual perception	cytoplasm|soluble fraction				endometrium(3)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)	16						TTCGCTATGGCCGTGATGACT	0.542													16	24					0	0	1	0	0	T	69495966	C	T	69495966	2	4	81	1	0	0	0	0	0	0	0	1	978	726	26	2		2	ARR3	23	69495966	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	16626	69495966	85774594	15211	18827											
KIF4A	24137	broad.mit.edu	37	X	69637830	69637830	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:69637830G>T	ENST00000374403.3	+	29	3430	c.3348G>T	c.(3346-3348)aaG>aaT	p.K1116N		NM_012310.4	NP_036442.3	O95239	KIF4A_HUMAN	kinesin family member 4A	1116	Globular.|Interaction with PRC1.				anterograde axon cargo transport|axon guidance|blood coagulation|organelle organization	chromosome|cytosol|midbody|nuclear matrix|spindle microtubule	ATP binding|DNA binding|microtubule motor activity|protein binding			breast(6)|endometrium(9)|kidney(3)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	51						ACCCCACAAAGTGTCGGAACC	0.532													23	34					1.85244e-09	2.23954e-09	1	1	0	T	69637830	G	T	69637830	3	4	81	1	0	0	0	0	1	0	0	0	8345	1020	36	4	3458	4	KIF4A	23	69637830	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	141864	69637830	85632730	15212	18828											
GDPD2	54857	broad.mit.edu	37	X	69646847	69646847	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:69646847C>T	ENST00000453994.2	+	8	1049	c.688C>T	c.(688-690)Cga>Tga	p.R230*	GDPD2_ENST00000538649.1_Nonsense_Mutation_p.R151*|GDPD2_ENST00000472623.1_3'UTR|GDPD2_ENST00000374382.3_Nonsense_Mutation_p.R230*|GDPD2_ENST00000536730.1_Nonsense_Mutation_p.R151*	NM_001171192.1	NP_001164663.1	Q9HCC8	GDPD2_HUMAN	glycerophosphodiester phosphodiesterase domain containing 2	230	GDPD.				glycerol metabolic process|lipid metabolic process	cytoplasm|cytoskeleton|integral to membrane|plasma membrane	glycerophosphodiester phosphodiesterase activity|glycerophosphoinositol inositolphosphodiesterase activity|metal ion binding			NS(1)|breast(1)|cervix(1)|endometrium(6)|large_intestine(8)|lung(3)|ovary(2)	22	Renal(35;0.156)					GGTGGGACACCGAGGGGCCCC	0.612													18	23					0	0	1	0	0	T	69646847	C	T	69646847	4	4	81	1	0	0	0	0	0	1	0	0	6366	644	23	1	714	1	GDPD2	23	69646847	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	9017	69646847	85623713	15213	18829											
GDPD2	54857	broad.mit.edu	37	X	69652787	69652787	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:69652787A>G	ENST00000453994.2	+	16	2078	c.1717A>G	c.(1717-1719)Act>Gct	p.T573A	GDPD2_ENST00000538649.1_Missense_Mutation_p.T443A|GDPD2_ENST00000472623.1_3'UTR|GDPD2_ENST00000374382.3_Missense_Mutation_p.T522A|GDPD2_ENST00000536730.1_Missense_Mutation_p.T443A	NM_001171192.1	NP_001164663.1	Q9HCC8	GDPD2_HUMAN	glycerophosphodiester phosphodiesterase domain containing 2	522					glycerol metabolic process|lipid metabolic process	cytoplasm|cytoskeleton|integral to membrane|plasma membrane	glycerophosphodiester phosphodiesterase activity|glycerophosphoinositol inositolphosphodiesterase activity|metal ion binding			NS(1)|breast(1)|cervix(1)|endometrium(6)|large_intestine(8)|lung(3)|ovary(2)	22	Renal(35;0.156)					GAGAGGGAAAACTGGTAAGAA	0.527													10	22					0	0	1	0	0	G	69652787	A	G	69652787	3	3	81	1	0	0	0	0	1	0	0	0	6366	43	2	3	1775	3	GDPD2	23	69652787	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	5940	69652787	85617773	15214	18830											
DLG3	1741	broad.mit.edu	37	X	69712375	69712376	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:69712375_69712376insA	ENST00000194900.4	+	13	2097_2098	c.1756_1757insA	c.(1756-1758)gaafs	p.E586fs	DLG3_ENST00000374360.3_Frame_Shift_Ins_p.E568fs|DLG3_ENST00000374355.3_Frame_Shift_Ins_p.E231fs|DLG3_ENST00000542398.1_Frame_Shift_Ins_p.E85fs			Q92796	DLG3_HUMAN	discs, large homolog 3 (Drosophila)	568					axon guidance|negative regulation of cell proliferation|synaptic transmission	plasma membrane	guanylate kinase activity			endometrium(4)|kidney(1)|large_intestine(10)|lung(5)|pancreas(1)|urinary_tract(1)	22	Renal(35;0.156)					AAACAGGGTGGAAAAGAAAGAA	0.48													10	13	---	---	---	---						A	69712376	-	A	69712375	7	5	81	1	0	1	1	0	0	0	0	0	4584	1175	41	0	1886	0	DLG3	23	69712375	Frame_Shift_Ins	INS	-	TCGA-DU-6392-01A-11D-1705-08	59588	69712375	85558185	15215	18831											
CXorf65	158830	broad.mit.edu	37	X	70325979	70325979	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:70325979C>T	ENST00000374251.5	-	3	169	c.121G>A	c.(121-123)Gat>Aat	p.D41N		NM_001025265.2	NP_001020436.1	A6NEN9	CX065_HUMAN	chromosome X open reading frame 65											breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)	10						TCACACAAATCGATGGTGTCT	0.473													22	22					0	0	1	0	0	T	70325979	C	T	70325979	3	4	81	1	0	0	0	0	1	0	0	0	4140	884	31	1	446	1	CXorf65	23	70325979	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	613604	70325979	84944581	15216	18832											
MED12	9968	broad.mit.edu	37	X	70339947	70339947	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:70339947T>C	ENST00000333646.6	+	4	679	c.480T>C	c.(478-480)atT>atC	p.I160I	MED12_ENST00000374080.3_Silent_p.I160I|MED12_ENST00000374102.1_Silent_p.I160I	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN	mediator complex subunit 12	160					androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					CCTGGCTCATTAAGATGACCT	0.478			"M, S"		uterine leiomyoma		Opitz-Kaveggia Syndrome						7	83					0	0	1	0	0	C	70339947	T	C	70339947	2	2	81	1	0	0	0	0	0	0	0	1	9478	1742	61	3		3	MED12	23	70339947	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	13968	70339947	84930613	15217	18833											
MED12	9968	broad.mit.edu	37	X	70344032	70344032	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:70344032C>T	ENST00000333646.6	+	13	1967	c.1768C>T	c.(1768-1770)Cgg>Tgg	p.R590W	MED12_ENST00000374080.3_Missense_Mutation_p.R590W|MED12_ENST00000374102.1_Missense_Mutation_p.R590W	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN	mediator complex subunit 12	590					androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					TGAGAGTGAGCGGGTGGAATT	0.473			"M, S"		uterine leiomyoma		Opitz-Kaveggia Syndrome						4	48					0	0	1	0	0	T	70344032	C	T	70344032	3	4	81	1	0	0	0	0	1	0	0	0	9478	759	27	1	1818	1	MED12	23	70344032	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	4085	70344032	84926528	15218	18834											
MED12	9968	broad.mit.edu	37	X	70347223	70347223	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:70347223G>A	ENST00000333646.6	+	21	3086	c.2887G>A	c.(2887-2889)Gat>Aat	p.D963N	MED12_ENST00000374080.3_Missense_Mutation_p.D963N|MED12_ENST00000374102.1_Missense_Mutation_p.D963N|MED12_ENST00000462984.1_3'UTR	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN	mediator complex subunit 12	963					androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					GAACCGGTCCGATGGCTCCTC	0.512			"M, S"		uterine leiomyoma		Opitz-Kaveggia Syndrome						16	21					0	0	1	0	0	A	70347223	G	A	70347223	3	1	81	1	0	0	0	0	1	0	0	0	9478	1058	37	1	2969	1	MED12	23	70347223	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	3191	70347223	84923337	15219	18835											
MED12	9968	broad.mit.edu	37	X	70349265	70349265	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:70349265C>A	ENST00000333646.6	+	26	3876	c.3677C>A	c.(3676-3678)gCt>gAt	p.A1226D	MED12_ENST00000374080.3_Missense_Mutation_p.A1226D|MED12_ENST00000374102.1_Missense_Mutation_p.A1226D	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN	mediator complex subunit 12	1226					androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					GTTCTCAAGGCTGTGTTTGTA	0.562			"M, S"		uterine leiomyoma		Opitz-Kaveggia Syndrome				OREG0019857	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	20	16					4.35082e-09	5.22652e-09	1	1	0	A	70349265	C	A	70349265	3	1	81	1	0	0	0	0	1	0	0	0	9478	797	28	4	3779	4	MED12	23	70349265	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2042	70349265	84921295	15220	18836											
MED12	9968	broad.mit.edu	37	X	70349570	70349570	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:70349570A>G	ENST00000333646.6	+	27	3931	c.3732A>G	c.(3730-3732)ggA>ggG	p.G1244G	MED12_ENST00000374080.3_Silent_p.G1244G|MED12_ENST00000374102.1_Silent_p.G1244G	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN	mediator complex subunit 12	1244					androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					CTGTGACAGGAGGAACAGAAG	0.582			"M, S"		uterine leiomyoma		Opitz-Kaveggia Syndrome				OREG0019857	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	3					0	0	1	0	0	G	70349570	A	G	70349570	2	3	81	1	0	0	0	0	0	0	0	1	9478	291	11	3		3	MED12	23	70349570	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	305	70349570	84920990	15221	18837											
MED12	9968	broad.mit.edu	37	X	70352363	70352363	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:70352363G>A	ENST00000333646.6	+	31	4589	c.4390G>A	c.(4390-4392)Gaa>Aaa	p.E1464K	MED12_ENST00000374080.3_Missense_Mutation_p.E1464K|MED12_ENST00000374102.1_Missense_Mutation_p.E1464K	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN	mediator complex subunit 12	1464					androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					TTCACGCAAAGAACGTGATCG	0.517			"M, S"		uterine leiomyoma		Opitz-Kaveggia Syndrome						4	4					0	0	1	0	0	A	70352363	G	A	70352363	3	1	81	1	0	0	0	0	1	0	0	0	9478	943	33	2	4512	2	MED12	23	70352363	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2793	70352363	84918197	15222	18838											
MED12	9968	broad.mit.edu	37	X	70354681	70354681	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:70354681C>A	ENST00000333646.6	+	35	5045	c.4846C>A	c.(4846-4848)Ctg>Atg	p.L1616M	MED12_ENST00000374080.3_Missense_Mutation_p.L1616M|MED12_ENST00000374102.1_Missense_Mutation_p.L1616M	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN	mediator complex subunit 12	1616	Interaction with CTNNB1 and GLI3.				androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					ATACATGAACCTGGCGAAGAA	0.537			"M, S"		uterine leiomyoma		Opitz-Kaveggia Syndrome						4	48					0.014758	0.0152304	1	1	0	A	70354681	C	A	70354681	3	1	81	1	0	0	0	0	1	0	0	0	9478	680	24	4	4984	4	MED12	23	70354681	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2318	70354681	84915879	15223	18839											
ZMYM3	9203	broad.mit.edu	37	X	70460821	70460821	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:70460821G>A	ENST00000373998.1	-	25	4719	c.4022C>T	c.(4021-4023)gCt>gTt	p.A1341V	ZMYM3_ENST00000373988.1_Missense_Mutation_p.A1355V|ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000373984.3_Missense_Mutation_p.A1263V|ZMYM3_ENST00000353904.2_Missense_Mutation_p.A1353V|ZMYM3_ENST00000314425.5_Missense_Mutation_p.A1353V	NM_001171162.1	NP_001164633.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	1353					multicellular organismal development	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					CTCGCGCACAGCCAGGATGCG	0.547													4	52					0	0	1	0	0	A	70460821	G	A	70460821	3	1	81	1	0	0	0	0	1	0	0	0	17759	971	34	2	58	2	ZMYM3	23	70460821	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	106140	70460821	84809739	15224	18840											
ZMYM3	9203	broad.mit.edu	37	X	70463819	70463819	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:70463819G>A	ENST00000373998.1	-	21	3953	c.3256C>T	c.(3256-3258)Cgt>Tgt	p.R1086C	ZMYM3_ENST00000373988.1_Missense_Mutation_p.R1100C|ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000373984.3_Missense_Mutation_p.R1093C|ZMYM3_ENST00000353904.2_Missense_Mutation_p.R1098C|ZMYM3_ENST00000314425.5_Missense_Mutation_p.R1098C	NM_001171162.1	NP_001164633.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	1098					multicellular organismal development	nucleus	DNA binding|zinc ion binding	p.R1098C(1)|p.R1098fs*22(1)		breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					TCTTTGATACGCATGGGTTTG	0.478													8	21					0	0	1	0	0	A	70463819	G	A	70463819	3	1	81	1	0	0	0	0	1	0	0	0	17759	1087	38	1	840	1	ZMYM3	23	70463819	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2998	70463819	84806741	15225	18841											
ZMYM3	9203	broad.mit.edu	37	X	70465908	70465908	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:70465908C>T	ENST00000373998.1	-	16	3274	c.2577G>A	c.(2575-2577)gtG>gtA	p.V859V	ZMYM3_ENST00000373988.1_Silent_p.V873V|ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000373984.3_Silent_p.V873V|ZMYM3_ENST00000353904.2_Silent_p.V871V|ZMYM3_ENST00000314425.5_Silent_p.V871V	NM_001171162.1	NP_001164633.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	871					multicellular organismal development	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					CGAAGATGGGCACTGGGATGG	0.577													20	72					0	0	1	0	0	T	70465908	C	T	70465908	2	4	81	1	0	0	0	0	0	0	0	1	17759	697	25	2		2	ZMYM3	23	70465908	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2089	70465908	84804652	15226	18842											
ZMYM3	9203	broad.mit.edu	37	X	70469915	70469915	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:70469915G>A	ENST00000373978.1	-	5	1000	c.923C>T	c.(922-924)cCg>cTg	p.P308L	ZMYM3_ENST00000373988.1_Silent_p.A406A|ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000373984.3_Silent_p.A406A|ZMYM3_ENST00000353904.2_Silent_p.A404A|ZMYM3_ENST00000373998.1_Silent_p.A404A|ZMYM3_ENST00000314425.5_Silent_p.A404A|ZMYM3_ENST00000373982.1_Silent_p.A406A|ZMYM3_ENST00000373981.1_Silent_p.A404A			Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	0					multicellular organismal development	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					GAGTAGCGTCGGCGGGATCCC	0.622													3	10					0	0	1	0	0	A	70469915	G	A	70469915	3	1	81	1	0	0	0	0	1	0	0	0	17759	1103	39	1	2998	1	ZMYM3	23	70469915	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	4007	70469915	84800645	15227	18843											
NONO	4841	broad.mit.edu	37	X	70519876	70519876	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:70519876C>T	ENST00000535149.1	+	10	1742	c.1099C>T	c.(1099-1101)Cgt>Tgt	p.R367C	NONO_ENST00000276079.8_Missense_Mutation_p.R456C|NONO_ENST00000373856.3_Missense_Mutation_p.R456C|NONO_ENST00000490044.1_3'UTR|NONO_ENST00000373841.1_Missense_Mutation_p.R456C	NM_001145410.1	NP_001138882.1	Q15233	NONO_HUMAN	non-POU domain containing, octamer-binding	456	DBHS.			QQ -> HE (in Ref. 3 and 4).	DNA recombination|DNA repair|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	nuclear matrix|paraspeckles	DNA binding|identical protein binding|nucleotide binding|RNA binding		NONO/TFE3(2)	endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	19	Renal(35;0.156)					TGCATTCAACCGTGCAGCTCC	0.458			T	TFE3	papillary renal cancer								33	50					0	0	1	0	0	T	70519876	C	T	70519876	3	4	81	1	0	0	0	0	1	0	0	0	10581	652	23	1	1404	1	NONO	23	70519876	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	49961	70519876	84750684	15228	18844											
ITGB1BP2	26548	broad.mit.edu	37	X	70523713	70523713	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:70523713C>A	ENST00000538820.1	+	7	877	c.537C>A	c.(535-537)ttC>ttA	p.F179L	ITGB1BP2_ENST00000465388.1_3'UTR|ITGB1BP2_ENST00000373829.3_Missense_Mutation_p.F197L			Q9UKP3	ITBP2_HUMAN	integrin beta 1 binding protein (melusin) 2	197	CHORD 2.|Cys-rich.				muscle organ development|signal transduction		SH3 domain binding			breast(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)	14	Renal(35;0.156)					TTGGGGCATTCTTGGCACAAC	0.478													7	17					0.00198382	0.00209725	1	1	0	A	70523713	C	A	70523713	3	1	81	1	0	0	0	0	1	0	0	0	7936	912	32	4	621	4	ITGB1BP2	23	70523713	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3837	70523713	84746847	15229	18845											
TAF1	6872	broad.mit.edu	37	X	70586309	70586309	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:70586309G>A	ENST00000449580.1	+	1	196	c.145G>A	c.(145-147)Gcc>Acc	p.A49T	TAF1_ENST00000423759.1_Missense_Mutation_p.A49T|TAF1_ENST00000276072.3_Missense_Mutation_p.A49T|TAF1_ENST00000373790.4_Missense_Mutation_p.A49T			P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	49	Protein kinase 1.				G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				CATCAATGGAGCCGGGCAGCT	0.627													9	10					0	0	1	0	0	A	70586309	G	A	70586309	3	1	81	1	0	0	0	0	1	0	0	0	15570	971	34	2	147	2	TAF1	23	70586309	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	62596	70586309	84684251	15230	18846											
TAF1	6872	broad.mit.edu	37	X	70627449	70627449	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:70627449G>A	ENST00000449580.1	+	27	4181	c.4130G>A	c.(4129-4131)cGc>cAc	p.R1377H	TAF1_ENST00000423759.1_Missense_Mutation_p.R1398H|TAF1_ENST00000276072.3_Missense_Mutation_p.R1398H|TAF1_ENST00000373790.4_Missense_Mutation_p.R1377H			P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	1377	Interaction with ASF1A and ASF1B.				G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				ATCCACCGGCGCCGCACAGAC	0.448													23	39					0	0	1	0	0	A	70627449	G	A	70627449	3	1	81	1	0	0	0	0	1	0	0	0	15570	1087	38	1	4299	1	TAF1	23	70627449	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	41140	70627449	84643111	15231	18847											
TAF1	6872	broad.mit.edu	37	X	70627487	70627487	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:70627487G>A	ENST00000449580.1	+	27	4219	c.4168G>A	c.(4168-4170)Gag>Aag	p.E1390K	TAF1_ENST00000423759.1_Missense_Mutation_p.E1411K|TAF1_ENST00000276072.3_Missense_Mutation_p.E1411K|TAF1_ENST00000373790.4_Missense_Mutation_p.E1390K			P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	1390	Interaction with ASF1A and ASF1B.				G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				GTCCATCTTGGAGTCTATCAT	0.453													17	41					0	0	1	0	0	A	70627487	G	A	70627487	3	1	81	1	0	0	0	0	1	0	0	0	15570	1175	41	2	4337	2	TAF1	23	70627487	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	38	70627487	84643073	15232	18848											
OGT	8473	broad.mit.edu	37	X	70757810	70757810	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:70757810G>A	ENST00000373719.3	+	3	567	c.350G>A	c.(349-351)cGt>cAt	p.R117H	OGT_ENST00000373701.3_Missense_Mutation_p.R107H|OGT_ENST00000498566.1_3'UTR	NM_181672.2|NM_181673.2	NP_858058.1|NP_858059.1	O15294	OGT1_HUMAN	O-linked N-acetylglucosamine (GlcNAc) transferase	117					cellular response to retinoic acid|positive regulation of granulocyte differentiation|positive regulation of histone H3-K4 methylation|positive regulation of proteolysis|protein O-linked glycosylation|signal transduction	cytosol|MLL5-L complex	enzyme activator activity|protein binding|protein N-acetylglucosaminyltransferase activity	p.R117H(1)|p.R107H(1)		breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Renal(35;0.156)					CATGCATTGCGTCTCAAACCT	0.493													6	46					0	0	1	0	0	A	70757810	G	A	70757810	3	1	81	1	0	0	0	0	1	0	0	0	10895	1145	40	1	360	1	OGT	23	70757810	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	130323	70757810	84512750	15233	18849											
OGT	8473	broad.mit.edu	37	X	70783181	70783181	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:70783181G>A	ENST00000373719.3	+	18	2485	c.2268G>A	c.(2266-2268)atG>atA	p.M756I	OGT_ENST00000373701.3_Missense_Mutation_p.M746I	NM_181672.2|NM_181673.2	NP_858058.1|NP_858059.1	O15294	OGT1_HUMAN	O-linked N-acetylglucosamine (GlcNAc) transferase	756					cellular response to retinoic acid|positive regulation of granulocyte differentiation|positive regulation of histone H3-K4 methylation|positive regulation of proteolysis|protein O-linked glycosylation|signal transduction	cytosol|MLL5-L complex	enzyme activator activity|protein binding|protein N-acetylglucosaminyltransferase activity			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Renal(35;0.156)					TTTTTCAGATGAAGTGTCCTG	0.353													45	55					0	0	1	0	0	A	70783181	G	A	70783181	3	1	81	1	0	0	0	0	1	0	0	0	10895	1290	45	2	2338	2	OGT	23	70783181	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	25371	70783181	84487379	15234	18850											
OGT	8473	broad.mit.edu	37	X	70787571	70787571	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:70787571C>A	ENST00000373719.3	+	20	3028	c.2811C>A	c.(2809-2811)ctC>ctA	p.L937L	OGT_ENST00000373701.3_Silent_p.L927L	NM_181672.2|NM_181673.2	NP_858058.1|NP_858059.1	O15294	OGT1_HUMAN	O-linked N-acetylglucosamine (GlcNAc) transferase	937					cellular response to retinoic acid|positive regulation of granulocyte differentiation|positive regulation of histone H3-K4 methylation|positive regulation of proteolysis|protein O-linked glycosylation|signal transduction	cytosol|MLL5-L complex	enzyme activator activity|protein binding|protein N-acetylglucosaminyltransferase activity			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Renal(35;0.156)					TGGATGTCCTCTGGGCAGGGA	0.517													5	20					0.184627	0.18622	1	1	0	A	70787571	C	A	70787571	2	1	81	1	0	0	0	0	0	0	0	1	10895	900	32	4		4	OGT	23	70787571	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	4390	70787571	84482989	15235	18851											
CXCR3	2833	broad.mit.edu	37	X	70836749	70836749	+	Silent	SNP	C	C	T	rs148752439		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:70836749C>T	ENST00000373691.4	-	2	877	c.714G>A	c.(712-714)tcG>tcA	p.S238S	CXCR3_ENST00000373693.3_Silent_p.S191S	NM_001142797.1	NP_001136269.1	P49682	CXCR3_HUMAN	chemokine (C-X-C motif) receptor 3	191					cell adhesion|cellular component movement|chemotaxis|elevation of cytosolic calcium ion concentration	cytoplasm|integral to plasma membrane	C-X-C chemokine receptor activity			breast(1)|central_nervous_system(2)|large_intestine(2)|lung(3)|ovary(2)	10	Renal(35;0.156)					CGTGGTGGGCCGACAGGAAGA	0.682													8	17					0	0	1	0	0	T	70836749	C	T	70836749	2	4	81	1	0	0	0	0	0	0	0	1	4115	639	23	1		1	CXCR3	23	70836749	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	49178	70836749	84433811	15236	18852											
RGAG4	340526	broad.mit.edu	37	X	71350056	71350056	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:71350056C>A	ENST00000545866.1	-	1	1702	c.1335G>T	c.(1333-1335)gaG>gaT	p.E445D	RGAG4_ENST00000609883.1_Missense_Mutation_p.E445D|NHSL2_ENST00000540800.1_Intron	NM_001024455.3	NP_001019626.1	Q5HYW3	RGAG4_HUMAN	retrotransposon gag domain containing 4	445										cervix(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|skin(1)	24	Renal(35;0.156)					CATAGGTCTCCTCAGTCCCTG	0.532													43	67					1.61863e-15	2.06662e-15	1	1	0	A	71350056	C	A	71350056	3	1	81	1	0	0	0	0	1	0	0	0	13327	680	24	4	378	4	RGAG4	23	71350056	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	513307	71350056	83920504	15237	18853											
RGAG4	340526	broad.mit.edu	37	X	71350537	71350537	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:71350537C>T	ENST00000545866.1	-	1	1221	c.854G>A	c.(853-855)cGc>cAc	p.R285H	RGAG4_ENST00000609883.1_Missense_Mutation_p.R285H|NHSL2_ENST00000540800.1_Intron	NM_001024455.3	NP_001019626.1	Q5HYW3	RGAG4_HUMAN	retrotransposon gag domain containing 4	285										cervix(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|skin(1)	24	Renal(35;0.156)					GAGCTCTTTGCGGAAGAATTC	0.502													10	147					0	0	1	0	0	T	71350537	C	T	71350537	3	4	81	1	0	0	0	0	1	0	0	0	13327	768	27	1	859	1	RGAG4	23	71350537	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	481	71350537	83920023	15238	18854											
NHSL2	340527	broad.mit.edu	37	X	71359883	71359883	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:71359883C>T	ENST00000373677.1	+	2	2649	c.1387C>T	c.(1387-1389)Cgt>Tgt	p.R463C	NHSL2_ENST00000535692.1_Missense_Mutation_p.R463C|NHSL2_ENST00000540800.1_Missense_Mutation_p.R829C|NHSL2_ENST00000510661.1_Missense_Mutation_p.R598C			F5H593	F5H593_HUMAN	NHS-like 2	829										NS(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(10)|lung(7)|stomach(1)	28	Renal(35;0.156)					GTCCGACCTACGTTCTGTTCG	0.522													4	13					0	0	1	0	0	T	71359883	C	T	71359883	3	4	81	1	0	0	0	0	1	0	0	0	10459	536	19	1	2507	1	NHSL2	23	71359883	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	9346	71359883	83910677	15239	18855											
ERCC6L	54821	broad.mit.edu	37	X	71425010	71425010	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:71425010G>T	ENST00000373657.1	-	3	3840	c.3238C>A	c.(3238-3240)Ctt>Att	p.L1080I	ERCC6L_ENST00000334463.3_Missense_Mutation_p.L1203I|PIN4_ENST00000423432.2_Intron			Q2NKX8	ERC6L_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 6-like	1203					cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol	ATP binding|DNA binding|helicase activity|protein binding			breast(2)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(9)|lung(9)|ovary(3)|skin(1)	38	Renal(35;0.156)					CGCTTTACAAGAGTCTCATAG	0.463													6	66					0.0215528	0.0221217	1	1	0	T	71425010	G	T	71425010	3	4	81	1	0	0	0	0	1	0	0	0	5246	942	33	4	149	4	ERCC6L	23	71425010	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	65127	71425010	83845550	15240	18856											
ERCC6L	54821	broad.mit.edu	37	X	71426140	71426140	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:71426140G>A	ENST00000373657.1	-	3	2710	c.2108C>T	c.(2107-2109)aCt>aTt	p.T703I	ERCC6L_ENST00000334463.3_Missense_Mutation_p.T826I|PIN4_ENST00000423432.2_Intron			Q2NKX8	ERC6L_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 6-like	826					cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol	ATP binding|DNA binding|helicase activity|protein binding			breast(2)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(9)|lung(9)|ovary(3)|skin(1)	38	Renal(35;0.156)					TGAAGAGTTAGTACAAAGTTC	0.408													6	68					0	0	1	0	0	A	71426140	G	A	71426140	3	1	81	1	0	0	0	0	1	0	0	0	5246	1029	36	2	1279	2	ERCC6L	23	71426140	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1130	71426140	83844420	15241	18857											
ERCC6L	54821	broad.mit.edu	37	X	71427039	71427039	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:71427039A>G	ENST00000373657.1	-	3	1811	c.1209T>C	c.(1207-1209)aaT>aaC	p.N403N	ERCC6L_ENST00000334463.3_Silent_p.N526N|PIN4_ENST00000423432.2_Intron			Q2NKX8	ERC6L_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 6-like	526					cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol	ATP binding|DNA binding|helicase activity|protein binding			breast(2)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(9)|lung(9)|ovary(3)|skin(1)	38	Renal(35;0.156)					AGTAATCTTTATTTTGCTGGA	0.383													39	70					0	0	1	0	0	G	71427039	A	G	71427039	2	3	81	1	0	0	0	0	0	0	0	1	5246	446	16	3		3	ERCC6L	23	71427039	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	899	71427039	83843521	15242	18858											
RPS4X	6191	broad.mit.edu	37	X	71494903	71494903	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:71494903C>A	ENST00000316084.6	-	4	464	c.360G>T	c.(358-360)aaG>aaT	p.K120N	RPS4X_ENST00000373626.3_Splice_Site_p.K120N|RPS4X_ENST00000486733.1_5'UTR	NM_001007.4	NP_000998.1	P62701	RS4X_HUMAN	ribosomal protein S4, X-linked	120					endocrine pancreas development|positive regulation of cell proliferation|positive regulation of translation|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|polysome	rRNA binding|structural constituent of ribosome			NS(1)|large_intestine(1)	2	Renal(35;0.156)					CCACACTCACCTTGGCCTCCT	0.478													9	14					2.17888e-05	2.43576e-05	1	1	0	A	71494903	C	A	71494903	5	1	81	1	0	0	0	0	0	0	1	0	13697	695	24	4	447	4	RPS4X	23	71494903	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	67864	71494903	83775657	15243	18859											
CITED1	4435	broad.mit.edu	37	X	71522666	71522666	+	Silent	SNP	C	C	T	rs141552530		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:71522666C>T	ENST00000246139.5	-	2	629	c.54G>A	c.(52-54)gcG>gcA	p.A18A	CITED1_ENST00000373619.3_Silent_p.A18A|CITED1_ENST00000445983.1_Silent_p.A18A|CITED1_ENST00000431381.1_Silent_p.A44A	NM_004143.3	NP_004134.2	Q99966	CITE1_HUMAN	Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 1	18					apoptosis|branching involved in ureteric bud morphogenesis|cell proliferation|melanin biosynthetic process|melanocyte differentiation|mesenchymal to epithelial transition|metanephros development|negative regulation of neuron apoptosis|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|nucleocytoplasmic transport|placenta development|positive regulation of anti-apoptosis|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transcription from RNA polymerase II promoter|response to cAMP|response to estrogen stimulus|response to insulin stimulus|response to interferon-gamma|response to interleukin-1|response to interleukin-11|response to interleukin-2|response to interleukin-4|response to interleukin-6|response to interleukin-9|response to lipopolysaccharide|response to parathyroid hormone stimulus|response to transforming growth factor beta stimulus|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	cytosol|nucleus	chromatin binding|co-SMAD binding|LBD domain binding|protein C-terminus binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding			skin(1)	1	Renal(35;0.156)					ttacctccttcgcaggTGAGG	0.517													5	7					0	0	1	0	0	T	71522666	C	T	71522666	2	4	81	1	0	0	0	0	0	0	0	1	3462	871	31	1		1	CITED1	23	71522666	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	27763	71522666	83747894	15244	18860											
PHKA1	5255	broad.mit.edu	37	X	71846867	71846867	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:71846867G>T	ENST00000373545.3	-	17	2185	c.1747C>A	c.(1747-1749)Ctg>Atg	p.L583M	PHKA1_ENST00000373542.4_Missense_Mutation_p.L583M|PHKA1_ENST00000339490.3_Missense_Mutation_p.L583M|PHKA1_ENST00000541944.1_Missense_Mutation_p.L583M|PHKA1_ENST00000373539.3_Missense_Mutation_p.L583M			P46020	KPB1_HUMAN	phosphorylase kinase, alpha 1 (muscle)	583					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	52	Renal(35;0.156)					AGTGCTGCCAGGATACTTGAA	0.373													46	94					1.46156e-29	1.94717e-29	1	1	0	T	71846867	G	T	71846867	3	4	81	1	0	0	0	0	1	0	0	0	11891	991	35	4	1988	4	PHKA1	23	71846867	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	324201	71846867	83423693	15245	18861											
PHKA1	5255	broad.mit.edu	37	X	71876093	71876093	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:71876093C>T	ENST00000373545.3	-	10	1357		c.e10-1		PHKA1_ENST00000373542.4_Splice_Site|PHKA1_ENST00000339490.3_Splice_Site|PHKA1_ENST00000541944.1_Splice_Site|PHKA1_ENST00000373539.3_Splice_Site			P46020	KPB1_HUMAN	phosphorylase kinase, alpha 1 (muscle)						glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	52	Renal(35;0.156)					GATTGGGATCCTAGTAAAAAC	0.368													37	38					0	0	1	0	0	T	71876093	C	T	71876093	5	4	81	1	0	0	0	0	0	0	1	0	11891	695	24	2	2845	2	PHKA1	23	71876093	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	29226	71876093	83394467	15246	18862											
PHKA1	5255	broad.mit.edu	37	X	71886144	71886144	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:71886144T>C	ENST00000373545.3	-	8	1159	c.721A>G	c.(721-723)Atc>Gtc	p.I241V	PHKA1_ENST00000373542.4_Missense_Mutation_p.I241V|PHKA1_ENST00000339490.3_Missense_Mutation_p.I241V|PHKA1_ENST00000541944.1_Missense_Mutation_p.I241V|PHKA1_ENST00000373539.3_Missense_Mutation_p.I241V			P46020	KPB1_HUMAN	phosphorylase kinase, alpha 1 (muscle)	241					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	52	Renal(35;0.156)					GAATTTAGGATAGACTAAGAG	0.378													3	44					0	0	1	0	0	C	71886144	T	C	71886144	3	2	81	1	0	0	0	0	1	0	0	0	11891	1406	49	3	3050	3	PHKA1	23	71886144	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	10051	71886144	83384416	15247	18863											
CDX4	1046	broad.mit.edu	37	X	72667186	72667186	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:72667186G>A	ENST00000373514.2	+	1	97	c.97G>A	c.(97-99)Ggg>Agg	p.G33R		NM_005193.1	NP_005184.1	O14627	CDX4_HUMAN	caudal type homeobox 4	33						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|skin(1)	18	Renal(35;0.156)					AGGCGGCACAGGGGGCGGTGG	0.607													7	23					0	0	1	0	0	A	72667186	G	A	72667186	3	1	81	1	0	0	0	0	1	0	0	0	3206	1000	35	2	99	2	CDX4	23	72667186	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	781042	72667186	82603374	15248	18864											
CDX4	1046	broad.mit.edu	37	X	72667386	72667386	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:72667386C>T	ENST00000373514.2	+	1	297	c.297C>T	c.(295-297)aaC>aaT	p.N99N		NM_005193.1	NP_005184.1	O14627	CDX4_HUMAN	caudal type homeobox 4	99						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|skin(1)	18	Renal(35;0.156)					TGCCGGTGAACGACGTGACCT	0.647													9	18					0	0	1	0	0	T	72667386	C	T	72667386	2	4	81	1	0	0	0	0	0	0	0	1	3206	535	19	1		1	CDX4	23	72667386	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	200	72667386	82603174	15249	18865											
CDX4	1046	broad.mit.edu	37	X	72673430	72673430	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:72673430T>C	ENST00000373514.2	+	2	580	c.580T>C	c.(580-582)Tgc>Cgc	p.C194R		NM_005193.1	NP_005184.1	O14627	CDX4_HUMAN	caudal type homeobox 4	194						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|skin(1)	18	Renal(35;0.156)					GGAATTCCATTGCAATAGATA	0.423													3	37					0	0	1	0	0	C	72673430	T	C	72673430	3	2	81	1	0	0	0	0	1	0	0	0	3206	1812	63	3	586	3	CDX4	23	72673430	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	6044	72673430	82597130	15250	18866											
ZCCHC13	389874	broad.mit.edu	37	X	73524566	73524566	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:73524566G>A	ENST00000339534.2	+	1	542	c.465G>A	c.(463-465)cgG>cgA	p.R155R		NM_203303.2	NP_976048.1	Q8WW36	ZCH13_HUMAN	zinc finger, CCHC domain containing 13	155							nucleic acid binding|zinc ion binding			breast(1)|kidney(1)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	8						TACCGCTGCGGCAAATCCCGA	0.527													16	23					0	0	1	0	0	A	73524566	G	A	73524566	2	1	81	1	0	0	0	0	0	0	0	1	17641	1190	42	2		2	ZCCHC13	23	73524566	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	851136	73524566	81745994	15251	18867											
SLC16A2	6567	broad.mit.edu	37	X	73740957	73740957	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:73740957G>A	ENST00000276033.5	+	2	951	c.785G>A	c.(784-786)aGc>aAc	p.S262N	SLC16A2_ENST00000587091.1_Missense_Mutation_p.S188N			P36021	MOT8_HUMAN	solute carrier family 16, member 2 (thyroid hormone transporter)	188						integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	21					Pyruvic acid(DB00119)	CTCCATACCAGCTCCTTCACC	0.502													21	38					0	0	1	0	0	A	73740957	G	A	73740957	3	1	81	1	0	0	0	0	1	0	0	0	14463	971	34	2	791	2	SLC16A2	23	73740957	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	216391	73740957	81529603	15252	18868											
RLIM	51132	broad.mit.edu	37	X	73815757	73815757	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:73815757C>T	ENST00000332687.6	-	2	274	c.56G>A	c.(55-57)cGc>cAc	p.R19H	RLIM_ENST00000349225.2_Missense_Mutation_p.R19H	NM_016120.3	NP_057204.2	Q9NVW2	RNF12_HUMAN	ring finger protein, LIM domain interacting	19					random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|transcriptional repressor complex	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CTGACTTCTGCGCTGTGCTGC	0.378													21	39					0	0	1	0	0	T	73815757	C	T	73815757	3	4	81	1	0	0	0	0	1	0	0	0	13442	768	27	1	1830	1	RLIM	23	73815757	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	74800	73815757	81454803	15253	18869											
KIAA2022	340533	broad.mit.edu	37	X	73959988	73959988	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:73959988C>A	ENST00000055682.6	-	3	5015	c.4404G>T	c.(4402-4404)gaG>gaT	p.E1468D		NM_001008537.2	NP_001008537.1	Q5QGS0	K2022_HUMAN	KIAA2022						base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						CCTGTTCTCGCTCCATGTGCT	0.473													26	41					7.33532e-06	8.31348e-06	1	1	0	A	73959988	C	A	73959988	3	1	81	1	0	0	0	0	1	0	0	0	8311	796	28	4	154	4	KIAA2022	23	73959988	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	144231	73959988	81310572	15254	18870											
KIAA2022	340533	broad.mit.edu	37	X	73960018	73960018	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:73960018T>G	ENST00000055682.6	-	3	4985	c.4374A>C	c.(4372-4374)agA>agC	p.R1458S		NM_001008537.2	NP_001008537.1	Q5QGS0	K2022_HUMAN	KIAA2022						base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						ATTTCTCATCTCTCAGGGCCT	0.433													7	93					0	0	1	0	0	G	73960018	T	G	73960018	3	3	81	1	0	0	0	0	1	0	0	0	8311	1548	54	5	184	5	KIAA2022	23	73960018	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	30	73960018	81310542	15255	18871											
KIAA2022	340533	broad.mit.edu	37	X	73960267	73960267	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:73960267C>A	ENST00000055682.6	-	3	4736	c.4125G>T	c.(4123-4125)caG>caT	p.Q1375H		NM_001008537.2	NP_001008537.1	Q5QGS0	K2022_HUMAN	KIAA2022						base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						TCTTAGACTCCTGTGGTGTCC	0.458													8	79					3.09899e-07	3.60815e-07	1	1	0	A	73960267	C	A	73960267	3	1	81	1	0	0	0	0	1	0	0	0	8311	680	24	4	433	4	KIAA2022	23	73960267	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	249	73960267	81310293	15256	18872											
KIAA2022	340533	broad.mit.edu	37	X	73960348	73960348	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:73960348A>G	ENST00000055682.6	-	3	4655	c.4044T>C	c.(4042-4044)caT>caC	p.H1348H		NM_001008537.2	NP_001008537.1	Q5QGS0	K2022_HUMAN	KIAA2022						base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						TGGGATCCCCATGGTGCTCCA	0.458													8	56					0	0	1	0	0	G	73960348	A	G	73960348	2	3	81	1	0	0	0	0	0	0	0	1	8311	214	8	3		3	KIAA2022	23	73960348	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	81	73960348	81310212	15257	18873											
KIAA2022	340533	broad.mit.edu	37	X	73960955	73960955	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:73960955G>T	ENST00000055682.6	-	3	4048	c.3437C>A	c.(3436-3438)tCt>tAt	p.S1146Y		NM_001008537.2	NP_001008537.1	Q5QGS0	K2022_HUMAN	KIAA2022						base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						CAGGCTGACAGAATCCTCATC	0.393													50	67					5.13769e-22	6.74307e-22	1	1	0	T	73960955	G	T	73960955	3	4	81	1	0	0	0	0	1	0	0	0	8311	942	33	4	1121	4	KIAA2022	23	73960955	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	607	73960955	81309605	15258	18874											
KIAA2022	340533	broad.mit.edu	37	X	73962651	73962651	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:73962651G>T	ENST00000055682.6	-	3	2352	c.1741C>A	c.(1741-1743)Ctg>Atg	p.L581M		NM_001008537.2	NP_001008537.1	Q5QGS0	K2022_HUMAN	KIAA2022						base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						AAGGGTGCCAGCTTGGCATAT	0.448													24	42					1.85244e-09	2.23954e-09	1	1	0	T	73962651	G	T	73962651	3	4	81	1	0	0	0	0	1	0	0	0	8311	962	34	4	2817	4	KIAA2022	23	73962651	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1696	73962651	81307909	15259	18875											
ABCB7	22	broad.mit.edu	37	X	74282213	74282213	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:74282213C>A	ENST00000253577.3	-	14	1912	c.1888G>T	c.(1888-1890)Gtc>Ttc	p.V630F	ABCB7_ENST00000373394.3_Missense_Mutation_p.V629F|ABCB7_ENST00000339447.4_Missense_Mutation_p.V589F	NM_001271696.1|NM_004299.3	NP_001258625.1|NP_004290.2	O75027	ABCB7_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 7	629	ABC transporter.				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						TAGAGTATGACTGGGGGGTCC	0.348													5	63					0.014758	0.0152304	1	1	0	A	74282213	C	A	74282213	3	1	81	1	0	0	0	0	1	0	0	0	46	565	20	4	385	4	ABCB7	23	74282213	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	319562	74282213	80988347	15260	18876											
ABCB7	22	broad.mit.edu	37	X	74289279	74289279	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:74289279A>C	ENST00000253577.3	-	11	1403	c.1379T>G	c.(1378-1380)aTg>aGg	p.M460R	ABCB7_ENST00000373394.3_Missense_Mutation_p.M459R|ABCB7_ENST00000339447.4_Missense_Mutation_p.M419R|ABCB7_ENST00000534570.1_5'UTR	NM_001271696.1|NM_004299.3	NP_001258625.1|NP_004290.2	O75027	ABCB7_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 7	459					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						GGGAGATGCCATCACTTTGTC	0.428													8	68					0	0	1	0	0	C	74289279	A	C	74289279	3	2	81	1	0	0	0	0	1	0	0	0	46	217	8	4	906	4	ABCB7	23	74289279	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	7066	74289279	80981281	15261	18877											
UPRT	139596	broad.mit.edu	37	X	74513320	74513320	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:74513320G>T	ENST00000373379.1	+	2	565	c.400G>T	c.(400-402)Ggt>Tgt	p.G134C	UPRT_ENST00000530743.1_5'UTR|UPRT_ENST00000373383.4_Missense_Mutation_p.G134C|UPRT_ENST00000531704.1_3'UTR			Q96BW1	UPP_HUMAN	uracil phosphoribosyltransferase (FUR1) homolog (S. cerevisiae)	134					nucleoside metabolic process	cytoplasm|nucleus				breast(1)|endometrium(7)|kidney(2)|large_intestine(4)|lung(4)	18						AGCCAGTAGAGGTGACTTCAT	0.343													77	153					2.93434e-44	3.94408e-44	1	1	0	T	74513320	G	T	74513320	3	4	81	1	0	0	0	0	1	0	0	0	17074	1000	35	4	406	4	UPRT	23	74513320	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	224041	74513320	80757240	15262	18878											
MAGEE2	139599	broad.mit.edu	37	X	75003402	75003402	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:75003402C>T	ENST00000373359.2	-	1	1677	c.1485G>A	c.(1483-1485)tgG>tgA	p.W495*		NM_138703.4	NP_619648.1	Q8TD90	MAGE2_HUMAN	melanoma antigen family E, 2	495	MAGE 2.									autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						ATTGTTCTGGCCAGTTCTGTG	0.478													7	63					0	0	1	0	0	T	75003402	C	T	75003402	4	4	81	1	0	0	0	0	0	1	0	0	9236	740	26	2	90	2	MAGEE2	23	75003402	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	490082	75003402	80267158	15263	18879											
MAGEE2	139599	broad.mit.edu	37	X	75004711	75004711	+	Missense_Mutation	SNP	G	G	T	rs140206798	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:75004711G>T	ENST00000373359.2	-	1	368	c.176C>A	c.(175-177)tCc>tAc	p.S59Y		NM_138703.4	NP_619648.1	Q8TD90	MAGE2_HUMAN	melanoma antigen family E, 2	59										autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						AACGGCCTGGGAAGTGTTGAC	0.597													27	31					4.59853e-10	5.59907e-10	1	1	0	T	75004711	G	T	75004711	3	4	81	1	0	0	0	0	1	0	0	0	9236	1174	41	5	1399	5	MAGEE2	23	75004711	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1309	75004711	80265849	15264	18880											
MAGEE1	57692	broad.mit.edu	37	X	75648782	75648782	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:75648782G>A	ENST00000361470.2	+	1	737	c.459G>A	c.(457-459)ccG>ccA	p.P153P		NM_020932.2	NP_065983.1	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	153	Pro-rich.					dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						CCTCCGTGCCGCCCACCGCCT	0.672													20	18					0	0	1	0	0	A	75648782	G	A	75648782	2	1	81	1	0	0	0	0	0	0	0	1	9235	1074	38	1		1	MAGEE1	23	75648782	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	644071	75648782	79621778	15265	18881											
MAGEE1	57692	broad.mit.edu	37	X	75649430	75649430	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:75649430G>A	ENST00000361470.2	+	1	1385	c.1107G>A	c.(1105-1107)ccG>ccA	p.P369P		NM_020932.2	NP_065983.1	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	369	Pro-rich.					dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						CCTCTGTGCCGCCCACCGCCT	0.672													7	15					0	0	1	0	0	A	75649430	G	A	75649430	2	1	81	1	0	0	0	0	0	0	0	1	9235	1074	38	1		1	MAGEE1	23	75649430	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	648	75649430	79621130	15266	18882											
MAGEE1	57692	broad.mit.edu	37	X	75651070	75651070	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:75651070G>A	ENST00000361470.2	+	1	3025	c.2747G>A	c.(2746-2748)cGa>cAa	p.R916Q		NM_020932.2	NP_065983.1	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	916	Interaction with DTNA (By similarity).|MAGE 2.					dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						AAAGCCTTGCGATATGTGGCC	0.493													16	25					0	0	1	0	0	A	75651070	G	A	75651070	3	1	81	1	0	0	0	0	1	0	0	0	9235	1058	37	1	2749	1	MAGEE1	23	75651070	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1640	75651070	79619490	15267	18883											
FGF16	8823	broad.mit.edu	37	X	76711988	76711988	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:76711988C>T	ENST00000439435.1	+	2	325	c.325C>T	c.(325-327)Cca>Tca	p.P109S				O43320	FGF16_HUMAN	fibroblast growth factor 16	0					cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|metabolic process|organ morphogenesis|response to temperature stimulus	extracellular space	growth factor activity			NS(1)|breast(1)|lung(2)	4						CCCTCCATGTCCAGAGACCTC	0.502													42	86					0	0	1	0	0	T	76711988	C	T	76711988	3	4	81	1	0	0	0	0	1	0	0	0	5877	855	30	2	332	2	FGF16	23	76711988	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1060918	76711988	78558572	15268	18884											
ATRX	546	broad.mit.edu	37	X	76776353	76776353	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:76776353C>T	ENST00000373344.5	-	34	7327	c.7113G>A	c.(7111-7113)gcG>gcA	p.A2371A	ATRX_ENST00000395603.3_Silent_p.A2333A|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	2371					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			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)	TTAATGCTAACGCCTGTACTT	0.353			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						38	56					0	0	1	0	0	T	76776353	C	T	76776353	2	4	81	1	0	0	0	0	0	0	0	1	1206	523	19	1		1	ATRX	23	76776353	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	64365	76776353	78494207	15269	18885											
ATRX	546	broad.mit.edu	37	X	76776885	76776885	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:76776885G>T	ENST00000373344.5	-	33	7281	c.7067C>A	c.(7066-7068)gCt>gAt	p.A2356D	ATRX_ENST00000395603.3_Missense_Mutation_p.A2318D|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	2356					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			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)	GCTTACTACAGCTGAAATTAT	0.363			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						6	68					2.0095e-06	2.30238e-06	1	1	0	T	76776885	G	T	76776885	3	4	81	1	0	0	0	0	1	0	0	0	1206	971	34	4	423	4	ATRX	23	76776885	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	532	76776885	78493675	15270	18886	95	2									
ATRX	546	broad.mit.edu	37	X	76776890	76776890	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:76776890A>G	ENST00000373344.5	-	33	7276	c.7062T>C	c.(7060-7062)atT>atC	p.I2354I	ATRX_ENST00000395603.3_Silent_p.I2316I|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	2354					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			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)	CTACAGCTGAAATTATATCCT	0.373			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						9	69					0	0	1	0	0	G	76776890	A	G	76776890	2	3	81	1	0	0	0	0	0	0	0	1	1206	10	1	3		3	ATRX	23	76776890	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	5	76776890	78493670	15271	18887	95	2									
ATRX	546	broad.mit.edu	37	X	76875919	76875919	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:76875919C>T	ENST00000373344.5	-	20	5430	c.5216G>A	c.(5215-5217)cGa>cAa	p.R1739Q	ATRX_ENST00000395603.3_Missense_Mutation_p.R1701Q|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1739	Helicase ATP-binding.				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)	CCTCCTTGATCGTATAGAATT	0.328			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						5	51					0	0	1	0	0	T	76875919	C	T	76875919	3	4	81	1	0	0	0	0	1	0	0	0	1206	884	31	1	2326	1	ATRX	23	76875919	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	99029	76875919	78394641	15272	18888											
ATRX	546	broad.mit.edu	37	X	76907780	76907780	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:76907780C>T	ENST00000373344.5	-	15	4595	c.4381G>A	c.(4381-4383)Gag>Aag	p.E1461K	ATRX_ENST00000395603.3_Missense_Mutation_p.E1423K|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1461	Poly-Glu.				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)	tcctcctcctcttcctcctcc	0.388			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						36	76					0	0	1	0	0	T	76907780	C	T	76907780	3	4	81	1	0	0	0	0	1	0	0	0	1206	922	32	2	3181	2	ATRX	23	76907780	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	31861	76907780	78362780	15273	18889											
ATRX	546	broad.mit.edu	37	X	76918942	76918942	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:76918942C>T	ENST00000373344.5	-	12	4263	c.4049G>A	c.(4048-4050)gGa>gAa	p.G1350E	ATRX_ENST00000395603.3_Missense_Mutation_p.G1312E|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1350					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)	TCCAGATTCTCCGTCACTCAC	0.358			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						40	41					0	0	1	0	0	T	76918942	C	T	76918942	3	4	81	1	0	0	0	0	1	0	0	0	1206	855	30	2	3525	2	ATRX	23	76918942	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	11162	76918942	78351618	15274	18890											
ATRX	546	broad.mit.edu	37	X	76939695	76939695	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:76939695C>A	ENST00000373344.5	-	9	1267	c.1053G>T	c.(1051-1053)gaG>gaT	p.E351D	ATRX_ENST00000395603.3_Missense_Mutation_p.E313D|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	351					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)	TCTTAATCATCTCTTTGGGCA	0.353			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						44	76					4.14194e-30	5.52136e-30	1	1	0	A	76939695	C	A	76939695	3	1	81	1	0	0	0	0	1	0	0	0	1206	912	32	4	6533	4	ATRX	23	76939695	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	20753	76939695	78330865	15275	18891											
PGAM4	441531	broad.mit.edu	37	X	77224501	77224501	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:77224501G>T	ENST00000458128.1	-	1	634	c.635C>A	c.(634-636)aCt>aAt	p.T212N	ATP7A_ENST00000343533.5_Intron|ATP7A_ENST00000341514.6_Intron|ATP7A_ENST00000350425.4_Intron	NM_001029891.2	NP_001025062.1	Q8N0Y7	PGAM4_HUMAN	phosphoglycerate mutase family member 4	212					glycolysis		2,3-bisphospho-D-glycerate 2-phosphohydrolase activity|bisphosphoglycerate mutase activity|phosphoglycerate mutase activity			endometrium(2)|lung(4)	6						GGGAATACCAGTCGGCAGGTT	0.512													7	148					9.70103e-10	1.17698e-09	1	1	0	T	77224501	G	T	77224501	3	4	81	1	0	0	0	0	1	0	0	0	11823	1029	36	4	133	4	PGAM4	23	77224501	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	284806	77224501	78046059	15276	18892											
ATP7A	538	broad.mit.edu	37	X	77244936	77244936	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:77244936A>G	ENST00000341514.6	+	4	973	c.818A>G	c.(817-819)tAt>tGt	p.Y273C	ATP7A_ENST00000343533.5_Missense_Mutation_p.Y273C|ATP7A_ENST00000350425.4_Intron	NM_000052.5	NP_000043.4	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	273					ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53						AGTCCATCATATACCAATGAT	0.393													78	98					0	0	1	0	0	G	77244936	A	G	77244936	3	3	81	1	0	0	0	0	1	0	0	0	1188	449	16	3	828	3	ATP7A	23	77244936	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	20435	77244936	78025624	15277	18893											
ATP7A	538	broad.mit.edu	37	X	77254148	77254148	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:77254148G>T	ENST00000341514.6	+	5	1665	c.1510G>T	c.(1510-1512)Gca>Tca	p.A504S	ATP7A_ENST00000343533.5_Missense_Mutation_p.A504S|ATP7A_ENST00000350425.4_Intron	NM_000052.5	NP_000043.4	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	504	HMA 5.				ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53						TTCCTGTGTAGCAAACATTGA	0.408													43	84					1.3203e-36	1.76926e-36	1	1	0	T	77254148	G	T	77254148	3	4	81	1	0	0	0	0	1	0	0	0	1188	971	34	4	1524	4	ATP7A	23	77254148	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	9212	77254148	78016412	15278	18894											
ATP7A	538	broad.mit.edu	37	X	77266736	77266736	+	Nonsense_Mutation	SNP	C	C	T	rs72554640		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:77266736C>T	ENST00000341514.6	+	8	2088	c.1933C>T	c.(1933-1935)Cga>Tga	p.R645*	ATP7A_ENST00000343533.5_Nonsense_Mutation_p.R645*|ATP7A_ENST00000350425.4_Intron	NM_000052.5	NP_000043.4	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	645					ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53						AGATCATAAACGAGAAATAAG	0.313													26	55					0	0	1	0	0	T	77266736	C	T	77266736	4	4	81	1	0	0	0	0	0	1	0	0	1188	528	19	1	1959	1	ATP7A	23	77266736	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	12588	77266736	78003824	15279	18895											
ATP7A	538	broad.mit.edu	37	X	77267082	77267082	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:77267082C>A	ENST00000341514.6	+	9	2238	c.2083C>A	c.(2083-2085)Ctt>Att	p.L695I	ATP7A_ENST00000343533.5_Missense_Mutation_p.L695I|ATP7A_ENST00000350425.4_Intron	NM_000052.5	NP_000043.4	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	695					ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53						AATGATCAACCTTCATTCTTC	0.383													81	171					2.36143e-25	3.12421e-25	1	1	0	A	77267082	C	A	77267082	3	1	81	1	0	0	0	0	1	0	0	0	1188	681	24	4	2113	4	ATP7A	23	77267082	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	346	77267082	78003478	15280	18896											
ATP7A	538	broad.mit.edu	37	X	77294367	77294367	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:77294367T>G	ENST00000341514.6	+	18	3700	c.3545T>G	c.(3544-3546)aTt>aGt	p.I1182S	ATP7A_ENST00000343533.5_Missense_Mutation_p.I1104S|ATP7A_ENST00000350425.4_Missense_Mutation_p.I185S	NM_000052.5	NP_000043.4	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	1182					ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53						AAAGTCCTCATTGGTAACCGG	0.358													10	246					0	0	1	0	0	G	77294367	T	G	77294367	3	3	81	1	0	0	0	0	1	0	0	0	1188	1493	52	4	3611	4	ATP7A	23	77294367	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	27285	77294367	77976193	15281	18897											
CYSLTR1	10800	broad.mit.edu	37	X	77528525	77528525	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:77528525G>A	ENST00000373304.3	-	3	1011	c.719C>T	c.(718-720)gCt>gTt	p.A240V		NM_001282187.1|NM_001282188.1|NM_006639.3	NP_001269116.1|NP_001269117.1|NP_006630.1	Q9Y271	CLTR1_HUMAN	cysteinyl leukotriene receptor 1	240					elevation of cytosolic calcium ion concentration|respiratory gaseous exchange	integral to plasma membrane|membrane fraction	leukotriene receptor activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	14					Amlexanox(DB01025)|Cinalukast(DB00587)|Montelukast(DB00471)|Nedocromil(DB00716)|Pranlukast(DB01411)|Zafirlukast(DB00549)	TAAAAAGGCAGCGGTCACGAC	0.343													48	51					0	0	1	0	0	A	77528525	G	A	77528525	3	1	81	1	0	0	0	0	1	0	0	0	4224	971	34	2	298	2	CYSLTR1	23	77528525	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	234158	77528525	77742035	15282	18898											
ZCCHC5	203430	broad.mit.edu	37	X	77913581	77913581	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:77913581C>A	ENST00000321110.1	-	2	632	c.337G>T	c.(337-339)Gag>Tag	p.E113*		NM_152694.2	NP_689907.1	Q8N8U3	ZCHC5_HUMAN	zinc finger, CCHC domain containing 5	113	Pro-rich.						nucleic acid binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1)	37						GCCAGGGACTCTGGGGCTGCT	0.637													4	20					0.00024832	0.000269806	1	1	0	A	77913581	C	A	77913581	4	1	81	1	0	0	0	0	0	1	0	0	17649	922	32	4	1094	4	ZCCHC5	23	77913581	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	385056	77913581	77356979	15283	18899											
LPAR4	2846	broad.mit.edu	37	X	78010459	78010459	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:78010459C>T	ENST00000435339.3	+	2	479	c.93C>T	c.(91-93)tgC>tgT	p.C31C		NM_005296.2	NP_005287.1	Q99677	LPAR4_HUMAN	lysophosphatidic acid receptor 4							integral to plasma membrane	lipid binding|purinergic nucleotide receptor activity, G-protein coupled			breast(3)|endometrium(3)|kidney(4)|large_intestine(4)|lung(16)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	38						ATAATACTTGCATTGTTGATG	0.403													82	122					0	0	1	0	0	T	78010459	C	T	78010459	2	4	81	1	0	0	0	0	0	0	0	1	8952	718	25	2		2	LPAR4	23	78010459	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	96878	78010459	77260101	15284	18900											
ITM2A	9452	broad.mit.edu	37	X	78619024	78619024	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:78619024C>A	ENST00000373298.2	-	2	282	c.139G>T	c.(139-141)Gag>Tag	p.E47*	ITM2A_ENST00000434584.2_Intron|ITM2A_ENST00000469541.1_5'UTR	NM_004867.4	NP_004858.1	O43736	ITM2A_HUMAN	integral membrane protein 2A	47						integral to membrane	protein binding			breast(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	18						GAGGAGCCCTCTTTTTCCTGG	0.408													12	10					0.00136819	0.00145431	1	1	0	A	78619024	C	A	78619024	4	1	81	1	0	0	0	0	0	1	0	0	7956	922	32	4	672	4	ITM2A	23	78619024	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	608565	78619024	76651536	15285	18901											
FAM46D	169966	broad.mit.edu	37	X	79699143	79699143	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:79699143C>T	ENST00000538312.1	+	5	1439	c.1105C>T	c.(1105-1107)Cca>Tca	p.P369S	FAM46D_ENST00000308293.5_Missense_Mutation_p.P369S	NM_001170574.1	NP_001164045.1	Q8NEK8	FA46D_HUMAN	family with sequence similarity 46, member D	369										kidney(1)|large_intestine(6)|liver(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23						AATACCTGAGCCACCCCCCGT	0.413													14	18					0	0	1	0	0	T	79699143	C	T	79699143	3	4	81	1	0	0	0	0	1	0	0	0	5604	739	26	2	1107	2	FAM46D	23	79699143	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1080119	79699143	75571417	15286	18902											
BRWD3	254065	broad.mit.edu	37	X	79932200	79932200	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:79932200C>A	ENST00000373275.4	-	41	5533	c.5317G>T	c.(5317-5319)Gat>Tat	p.D1773Y		NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	1773										breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						TTCAGAGGATCCTCAGTGGAC	0.393													25	32					3.28513e-13	4.13666e-13	1	1	0	A	79932200	C	A	79932200	3	1	81	1	0	0	0	0	1	0	0	0	1528	855	30	5	95	5	BRWD3	23	79932200	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	233057	79932200	75338360	15287	18903											
BRWD3	254065	broad.mit.edu	37	X	79932253	79932253	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:79932253C>A	ENST00000373275.4	-	41	5480	c.5264G>T	c.(5263-5265)aGg>aTg	p.R1755M		NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	1755										breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						TAAAACAGTCCTCCTGCCTTG	0.403													10	56					4.68919e-08	5.54405e-08	1	1	0	A	79932253	C	A	79932253	3	1	81	1	0	0	0	0	1	0	0	0	1528	681	24	4	148	4	BRWD3	23	79932253	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	53	79932253	75338307	15288	18904											
BRWD3	254065	broad.mit.edu	37	X	79973207	79973207	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:79973207C>T	ENST00000373275.4	-	19	2312	c.2096G>A	c.(2095-2097)cGa>cAa	p.R699Q	BRWD3_ENST00000473691.1_5'UTR	NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	699										breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						ACTATGTCTTCGAAGCCTGAT	0.423													33	59					0	0	1	0	0	T	79973207	C	T	79973207	3	4	81	1	0	0	0	0	1	0	0	0	1528	884	31	1	3404	1	BRWD3	23	79973207	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	40954	79973207	75297353	15289	18905											
POU3F4	5456	broad.mit.edu	37	X	82763427	82763427	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:82763427G>A	ENST00000373200.2	+	1	159	c.95G>A	c.(94-96)cGc>cAc	p.R32H	RP3-326L13.2_ENST00000607095.1_RNA	NM_000307.3	NP_000298	P49335	PO3F4_HUMAN	POU class 3 homeobox 4	32					sensory perception of sound	nucleus	sequence-specific DNA binding transcription factor activity			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	37						AGTCCTTTCCGCAACCCTCAG	0.597													6	15					0	0	1	0	0	A	82763427	G	A	82763427	3	1	81	1	0	0	0	0	1	0	0	0	12323	1087	38	1	97	1	POU3F4	23	82763427	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2790220	82763427	72507133	15290	18906											
POU3F4	5456	broad.mit.edu	37	X	82763476	82763476	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:82763476C>T	ENST00000373200.2	+	1	208	c.144C>T	c.(142-144)agC>agT	p.S48S	RP3-326L13.2_ENST00000607095.1_RNA	NM_000307.3	NP_000298	P49335	PO3F4_HUMAN	POU class 3 homeobox 4	48					sensory perception of sound	nucleus	sequence-specific DNA binding transcription factor activity			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	37						GAGTTCCCAGCAATGGGCATC	0.622													7	10					0	0	1	0	0	T	82763476	C	T	82763476	2	4	81	1	0	0	0	0	0	0	0	1	12323	709	25	2		2	POU3F4	23	82763476	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	49	82763476	72507084	15291	18907											
HDX	139324	broad.mit.edu	37	X	83723698	83723698	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:83723698G>A	ENST00000297977.5	-	3	1144	c.1033C>T	c.(1033-1035)Cca>Tca	p.P345S	HDX_ENST00000373177.2_Missense_Mutation_p.P345S|HDX_ENST00000506585.2_Missense_Mutation_p.P287S	NM_001177479.1|NM_144657.4	NP_001170950.1|NP_653258.2	Q7Z353	HDX_HUMAN	highly divergent homeobox	345						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(12)|liver(1)|lung(19)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						TTTCTTCCTGGTCCGGGCAAG	0.428													21	32					0	0	1	0	0	A	83723698	G	A	83723698	3	1	81	1	0	0	0	0	1	0	0	0	7067	1261	44	2	1071	2	HDX	23	83723698	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	960222	83723698	71546862	15292	18908											
HDX	139324	broad.mit.edu	37	X	83724245	83724245	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:83724245A>G	ENST00000297977.5	-	3	597	c.486T>C	c.(484-486)tgT>tgC	p.C162C	HDX_ENST00000373177.2_Silent_p.C162C|HDX_ENST00000506585.2_Silent_p.C104C	NM_001177479.1|NM_144657.4	NP_001170950.1|NP_653258.2	Q7Z353	HDX_HUMAN	highly divergent homeobox	162						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(12)|liver(1)|lung(19)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						AAGCATTTTTACAGTGTGCTA	0.353													13	133					0	0	1	0	0	G	83724245	A	G	83724245	2	3	81	1	0	0	0	0	0	0	0	1	7067	389	14	3		3	HDX	23	83724245	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	547	83724245	71546315	15293	18909											
SATL1	340562	broad.mit.edu	37	X	84349941	84349941	+	Silent	SNP	G	G	A	rs141349825	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:84349941G>A	ENST00000509231.1	-	3	1834	c.1755C>T	c.(1753-1755)aaC>aaT	p.N585N	SATL1_ENST00000395409.3_Silent_p.N398N|SATL1_ENST00000332921.5_Silent_p.N398N			Q86VE3	SATL1_HUMAN	spermidine/spermine N1-acetyl transferase-like 1	398							N-acetyltransferase activity			NS(1)|breast(5)|endometrium(2)|large_intestine(3)|lung(13)|skin(3)|stomach(1)|urinary_tract(1)	29						TTTGTTGATCGTTTACTTCTG	0.348													11	18					0	0	1	0	0	A	84349941	G	A	84349941	2	1	81	1	0	0	0	0	0	0	0	1	13908	1136	40	1		1	SATL1	23	84349941	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	625696	84349941	70920619	15294	18910											
SATL1	340562	broad.mit.edu	37	X	84363608	84363608	+	Translation_Start_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:84363608G>A	ENST00000395409.3	-	0	366				SATL1_ENST00000509231.1_Missense_Mutation_p.R123C|SATL1_ENST00000332921.5_De_novo_Start_OutOfFrame			Q86VE3	SATL1_HUMAN	spermidine/spermine N1-acetyl transferase-like 1								N-acetyltransferase activity			NS(1)|breast(5)|endometrium(2)|large_intestine(3)|lung(13)|skin(3)|stomach(1)|urinary_tract(1)	29						TGCCTCATGCGTGATTGGCTG	0.542											OREG0019887	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	9					0	0	1	0	0	A	84363608	G	A	84363608	1	1	81	1	0	0	0	0	0	0	0	0	13908	1145	40	1		1	SATL1	23	84363608	Translation_Start_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	13667	84363608	70906952	15295	18911											
ZNF711	7552	broad.mit.edu	37	X	84520139	84520139	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:84520139T>A	ENST00000360700.4	+	6	1680	c.794T>A	c.(793-795)gTc>gAc	p.V265D	ZNF711_ENST00000395402.1_Missense_Mutation_p.V243D|ZNF711_ENST00000542798.1_Missense_Mutation_p.V61D|ZNF711_ENST00000373165.3_Missense_Mutation_p.V265D|ZNF711_ENST00000276123.3_Missense_Mutation_p.V265D			Q9Y462	ZN711_HUMAN	zinc finger protein 711	265				IVT -> MSP (in Ref. 4; CAA39837).	positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(3)|skin(4)	28						ACAGAAATTGTCACAGAGAGT	0.368													35	53					0	0	1	0	0	A	84520139	T	A	84520139	3	1	81	1	0	0	0	0	1	0	0	0	18172	1667	58	5	808	5	ZNF711	23	84520139	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	156531	84520139	70750421	15296	18912											
CHM	1121	broad.mit.edu	37	X	85218762	85218762	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:85218762C>A	ENST00000357749.2	-	5	639	c.610G>T	c.(610-612)Gaa>Taa	p.E204*	CHM_ENST00000537751.1_Nonsense_Mutation_p.E56*|CHM_ENST00000467744.2_Intron	NM_000390.2	NP_000381.1	P24386	RAE1_HUMAN	choroideremia (Rab escort protein 1)	204					intracellular protein transport|protein geranylgeranylation|response to stimulus|visual perception	Rab-protein geranylgeranyltransferase complex	GTPase activator activity|Rab geranylgeranyltransferase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|prostate(1)	20		all_lung(315;5.41e-06)				GTGGTATCTTCTGCTATAGGC	0.358													7	97					0.000157383	0.000171784	1	1	0	A	85218762	C	A	85218762	4	1	81	1	0	0	0	0	0	1	0	0	3372	922	32	4	1395	4	CHM	23	85218762	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	698623	85218762	70051798	15297	18913											
DACH2	117154	broad.mit.edu	37	X	85403938	85403938	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:85403938G>A	ENST00000373131.1	+	1	477	c.314G>A	c.(313-315)gGc>gAc	p.G105D	DACH2_ENST00000373125.4_Missense_Mutation_p.G105D	NM_001139514.1	NP_001132986.1	Q96NX9	DACH2_HUMAN	dachshund homolog 2 (Drosophila)	105	DACHbox-N.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|nucleotide binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						CTGGTGGGAGGCTTGCACACT	0.572													21	53					0	0	1	0	0	A	85403938	G	A	85403938	3	1	81	1	0	0	0	0	1	0	0	0	4245	1203	42	2	316	2	DACH2	23	85403938	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	185176	85403938	69866622	15298	18914											
DACH2	117154	broad.mit.edu	37	X	85769296	85769296	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:85769296G>T	ENST00000373131.1	+	2	666	c.503G>T	c.(502-504)aGg>aTg	p.R168M	DACH2_ENST00000373125.4_Missense_Mutation_p.R181M|DACH2_ENST00000508860.1_Missense_Mutation_p.R14M|DACH2_ENST00000510272.1_5'UTR	NM_001139514.1	NP_001132986.1	Q96NX9	DACH2_HUMAN	dachshund homolog 2 (Drosophila)	181					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|nucleotide binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						AGACCCGGCAGGCCCCCTAAG	0.438													4	17					0.217242	0.218703	1	1	0	T	85769296	G	T	85769296	3	4	81	1	0	0	0	0	1	0	0	0	4245	1000	35	4	552	4	DACH2	23	85769296	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	365358	85769296	69501264	15299	18915											
KLHL4	56062	broad.mit.edu	37	X	86890607	86890607	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:86890607C>T	ENST00000373119.4	+	9	1902	c.1757C>T	c.(1756-1758)tCa>tTa	p.S586L	KLHL4_ENST00000373114.4_Missense_Mutation_p.S586L	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN	kelch-like family member 4	586						cytoplasm|microtubule cytoskeleton|nucleolus	actin binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						TGCCTCAAATCAATGGAATAC	0.398													17	23					0	0	1	0	0	T	86890607	C	T	86890607	3	4	81	1	0	0	0	0	1	0	0	0	8434	838	29	2	1791	2	KLHL4	23	86890607	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1121311	86890607	68379953	15300	18916											
PABPC5	140886	broad.mit.edu	37	X	90691273	90691273	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:90691273G>T	ENST00000312600.3	+	2	911	c.697G>T	c.(697-699)Gat>Tat	p.D233Y	PABPC5_ENST00000373105.1_Missense_Mutation_p.D69Y	NM_080832.2	NP_543022.1	Q96DU9	PABP5_HUMAN	poly(A) binding protein, cytoplasmic 5	233	RRM 3.					cytoplasm	nucleotide binding|RNA binding			central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(1)|pancreas(1)	42						AGTAATAAGAGATGCCAGTGG	0.418													20	44					4.96729e-08	5.86596e-08	1	1	0	T	90691273	G	T	90691273	3	4	81	1	0	0	0	0	1	0	0	0	11414	942	33	4	699	4	PABPC5	23	90691273	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	3800666	90691273	64579287	15301	18917											
PCDH11X	27328	broad.mit.edu	37	X	91090698	91090698	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:91090698A>G	ENST00000373094.1	+	1	1040	c.195A>G	c.(193-195)ctA>ctG	p.L65L	PCDH11X_ENST00000361724.1_Silent_p.L65L|PCDH11X_ENST00000373097.1_Silent_p.L65L|PCDH11X_ENST00000361655.2_Silent_p.L65L|PCDH11X_ENST00000373088.1_Silent_p.L65L|PCDH11X_ENST00000298274.8_Silent_p.L65L|PCDH11X_ENST00000395337.2_Silent_p.L65L|PCDH11X_ENST00000504220.2_Silent_p.L65L|PCDH11X_ENST00000406881.1_Silent_p.L65L	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	65	Cadherin 1.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						AGTTCAAGCTAGTGTACAAGA	0.448													4	107					0	0	1	0	0	G	91090698	A	G	91090698	2	3	81	1	0	0	0	0	0	0	0	1	11555	407	15	3		3	PCDH11X	23	91090698	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	399425	91090698	64179862	15302	18918											
PCDH11X	27328	broad.mit.edu	37	X	91132650	91132650	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:91132650G>A	ENST00000373094.1	+	2	2256	c.1411G>A	c.(1411-1413)Gta>Ata	p.V471I	PCDH11X_ENST00000361724.1_Missense_Mutation_p.V471I|PCDH11X_ENST00000373097.1_Missense_Mutation_p.V471I|PCDH11X_ENST00000361655.2_Missense_Mutation_p.V471I|PCDH11X_ENST00000373088.1_Missense_Mutation_p.V471I|PCDH11X_ENST00000298274.8_Missense_Mutation_p.V471I|PCDH11X_ENST00000395337.2_Missense_Mutation_p.V471I|PCDH11X_ENST00000504220.2_Missense_Mutation_p.V471I|PCDH11X_ENST00000406881.1_Missense_Mutation_p.V471I	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	471	Cadherin 5.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						CCAGTCTTTCGTAACTGTTTC	0.433													35	54					0	0	1	0	0	A	91132650	G	A	91132650	3	1	81	1	0	0	0	0	1	0	0	0	11555	1145	40	1	1417	1	PCDH11X	23	91132650	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	41952	91132650	64137910	15303	18919											
PCDH11X	27328	broad.mit.edu	37	X	91134164	91134164	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:91134164T>C	ENST00000373094.1	+	2	3770	c.2925T>C	c.(2923-2925)tgT>tgC	p.C975C	PCDH11X_ENST00000361724.1_Silent_p.C975C|PCDH11X_ENST00000373097.1_Silent_p.C975C|PCDH11X_ENST00000361655.2_Silent_p.C975C|PCDH11X_ENST00000373088.1_Silent_p.C975C|PCDH11X_ENST00000298274.8_Silent_p.C975C|PCDH11X_ENST00000395337.2_Silent_p.C975C|PCDH11X_ENST00000504220.2_Silent_p.C975C|PCDH11X_ENST00000406881.1_Silent_p.C975C	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	975					homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						TTGTGGCCTGTGACTCTATCT	0.512													35	125					0	0	1	0	0	C	91134164	T	C	91134164	2	2	81	1	0	0	0	0	0	0	0	1	11555	1702	59	3		3	PCDH11X	23	91134164	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	1514	91134164	64136396	15304	18920											
PCDH11X	27328	broad.mit.edu	37	X	91675536	91675536	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:91675536A>G	ENST00000298274.8	+	4	3243	c.3243A>G	c.(3241-3243)ccA>ccG	p.P1081P	PCDH11X_ENST00000373097.1_Intron|PCDH11X_ENST00000361655.2_Intron|PCDH11X_ENST00000373088.1_Intron|PCDH11X_ENST00000373094.1_Intron|PCDH11X_ENST00000504220.2_Intron|PCDH11X_ENST00000406881.1_Intron			Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	1118					homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						ccttcatcccaaggagggttt	0.348													8	180					0	0	1	0	0	G	91675536	A	G	91675536	2	3	81	1	0	0	0	0	0	0	0	1	11555	145	5	3		3	PCDH11X	23	91675536	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	541372	91675536	63595024	15305	18921											
NAP1L3	4675	broad.mit.edu	37	X	92927767	92927767	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:92927767A>G	ENST00000373079.3	-	1	800	c.537T>C	c.(535-537)gaT>gaC	p.D179D	NAP1L3_ENST00000475430.2_Silent_p.D172D	NM_004538.5	NP_004529.2	Q99457	NP1L3_HUMAN	nucleosome assembly protein 1-like 3	179	Glu-rich.				nucleosome assembly	chromatin assembly complex				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	34						TAGGGGTGTTATCCTGCACCT	0.448													11	115					0	0	1	0	0	G	92927767	A	G	92927767	2	3	81	1	0	0	0	0	0	0	0	1	10206	446	16	3		3	NAP1L3	23	92927767	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	1252231	92927767	62342793	15306	18922											
PCDH19	57526	broad.mit.edu	37	X	99551661	99551661	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:99551661C>A	ENST00000373034.4	-	6	4736	c.3061G>T	c.(3061-3063)Gat>Tat	p.D1021Y	PCDH19_ENST00000255531.7_Missense_Mutation_p.D974Y|PCDH19_ENST00000420881.2_Missense_Mutation_p.D973Y	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	1021					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						TCGCTGACATCTTTCCCAAAG	0.562													16	40					6.31663e-08	7.44777e-08	1	1	0	A	99551661	C	A	99551661	3	1	81	1	0	0	0	0	1	0	0	0	11561	913	32	4	389	4	PCDH19	23	99551661	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	6623894	99551661	55718899	15307	18923											
TNMD	64102	broad.mit.edu	37	X	99848938	99848938	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:99848938A>G	ENST00000373031.4	+	3	444	c.227A>G	c.(226-228)aAg>aGg	p.K76R	TNMD_ENST00000485971.1_3'UTR	NM_022144.2	NP_071427.2	Q9H2S6	TNMD_HUMAN	tenomodulin	76						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(7)|skin(1)	16						GAGAAGAAGAAGATTTACATG	0.408													28	65					0	0	1	0	0	G	99848938	A	G	99848938	3	3	81	1	0	0	0	0	1	0	0	0	16382	72	3	3	237	3	TNMD	23	99848938	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	297277	99848938	55421622	15308	18924											
TSPAN6	7105	broad.mit.edu	37	X	99887565	99887565	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:99887565C>A	ENST00000373020.4	-	6	697	c.586G>T	c.(586-588)Ggt>Tgt	p.G196C	TSPAN6_ENST00000496771.1_5'UTR	NM_001278740.1|NM_001278741.1|NM_003270.2	NP_001265669.1|NP_001265670.1|NP_003261.1	O43657	TSN6_HUMAN	tetraspanin 6	196					positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane	signal transducer activity			endometrium(2)|kidney(3)|large_intestine(6)|ovary(1)	12						ATAAAACAACCCTAATGGGAG	0.353													12	14					4.3838e-07	5.09097e-07	1	1	0	A	99887565	C	A	99887565	5	1	81	1	0	0	0	0	0	0	1	0	16712	637	22	5	159	5	TSPAN6	23	99887565	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	38627	99887565	55382995	15309	18925											
SRPX2	27286	broad.mit.edu	37	X	99901318	99901318	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:99901318G>T	ENST00000481988.1	+	2	295		c.e2-1		SRPX2_ENST00000373004.3_5'UTR			O60687	SRPX2_HUMAN	sushi-repeat containing protein, X-linked 2						angiogenesis|cell motility|cell-cell adhesion|positive regulation of cell migration involved in sprouting angiogenesis|regulation of phosphorylation	cytoplasm|extracellular region	receptor binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(2)|upper_aerodigestive_tract(1)	19						TCCCTTTCAAGGATGGCCAGT	0.453													39	52					1.52319e-26	2.01947e-26	1	1	0	T	99901318	G	T	99901318	5	4	81	1	0	0	0	0	0	0	1	0	15221	1015	35	4	1	4	SRPX2	23	99901318	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	13753	99901318	55369242	15310	18926											
SYTL4	94121	broad.mit.edu	37	X	99941132	99941132	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:99941132G>T	ENST00000455616.1	-	14	1650	c.1304C>A	c.(1303-1305)tCt>tAt	p.S435Y	SYTL4_ENST00000276141.6_Missense_Mutation_p.S435Y|SYTL4_ENST00000372981.1_3'UTR|SYTL4_ENST00000454200.2_Missense_Mutation_p.S437Y|SYTL4_ENST00000263033.5_Missense_Mutation_p.S435Y|SYTL4_ENST00000372989.1_Missense_Mutation_p.S435Y			Q96C24	SYTL4_HUMAN	synaptotagmin-like 4	435	C2 1.				exocytosis|intracellular protein transport	extrinsic to membrane|plasma membrane|synaptic vesicle|transport vesicle membrane	neurexin binding|phospholipid binding|Rab GTPase binding|transporter activity|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(2)	27					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GGCCAGGAGAGATTCTGGGAT	0.458													6	10					0.0293803	0.0300537	1	1	0	T	99941132	G	T	99941132	3	4	81	1	0	0	0	0	1	0	0	0	15542	942	33	4	731	4	SYTL4	23	99941132	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	39814	99941132	55329428	15311	18927											
CSTF2	1478	broad.mit.edu	37	X	100081697	100081697	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:100081697A>T	ENST00000415585.2	+	7	799	c.777A>T	c.(775-777)caA>caT	p.Q259H	CSTF2_ENST00000372972.2_Missense_Mutation_p.Q259H			P33240	CSTF2_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa	259	Gly/Pro-rich.				mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	cleavage body|mRNA cleavage and polyadenylation specificity factor complex	nucleotide binding|protein binding|RNA binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1)	13						CACCAGGGCAAATGCCAGCTG	0.483													5	32					0	0	1	0	0	T	100081697	A	T	100081697	3	4	81	1	0	0	0	0	1	0	0	0	4009	11	1	5	803	5	CSTF2	23	100081697	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	140565	100081697	55188863	15312	18928											
NOX1	27035	broad.mit.edu	37	X	100104859	100104859	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:100104859G>A	ENST00000372966.3	-	10	1403	c.1198C>T	c.(1198-1200)Ctg>Ttg	p.L400L	NOX1_ENST00000372960.4_Silent_p.L363L|NOX1_ENST00000217885.5_Silent_p.L400L|NOX1_ENST00000372964.1_Intron	NM_007052.4|NM_013955.2	NP_008983.2|NP_039249.1	Q9Y5S8	NOX1_HUMAN	NADPH oxidase 1	400	Interaction with NOXO1.				angiogenesis|cell migration|electron transport chain|FADH2 metabolic process|hydrogen peroxide metabolic process|inflammatory response|intracellular pH elevation|positive regulation of integrin biosynthetic process|positive regulation of smooth muscle cell proliferation|positive regulation vascular endothelial growth factor production|respiratory burst|response to pH|signal transduction|superoxide anion generation	cell junction|early endosome|invadopodium membrane|NADPH oxidase complex	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|Rac GTPase binding|superoxide-generating NADPH oxidase activity|voltage-gated proton channel activity			cervix(1)|lung(3)|ovary(1)|skin(2)	7						GCTCCAACCAGCACAGCCACT	0.478													4	35					0	0	1	0	0	A	100104859	G	A	100104859	2	1	81	1	0	0	0	0	0	0	0	1	10603	962	34	2		2	NOX1	23	100104859	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	23162	100104859	55165701	15313	18929											
NOX1	27035	broad.mit.edu	37	X	100105197	100105197	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:100105197C>T	ENST00000372966.3	-	9	1281	c.1076G>A	c.(1075-1077)gGg>gAg	p.G359E	NOX1_ENST00000372960.4_Missense_Mutation_p.G322E|NOX1_ENST00000217885.5_Missense_Mutation_p.G359E|NOX1_ENST00000372964.1_Intron	NM_007052.4|NM_013955.2	NP_008983.2|NP_039249.1	Q9Y5S8	NOX1_HUMAN	NADPH oxidase 1	359	FAD-binding FR-type.				angiogenesis|cell migration|electron transport chain|FADH2 metabolic process|hydrogen peroxide metabolic process|inflammatory response|intracellular pH elevation|positive regulation of integrin biosynthetic process|positive regulation of smooth muscle cell proliferation|positive regulation vascular endothelial growth factor production|respiratory burst|response to pH|signal transduction|superoxide anion generation	cell junction|early endosome|invadopodium membrane|NADPH oxidase complex	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|Rac GTPase binding|superoxide-generating NADPH oxidase activity|voltage-gated proton channel activity			cervix(1)|lung(3)|ovary(1)|skin(2)	7						TGTCCAGTCCCCTGCTGCTCG	0.473													5	49					0	0	1	0	0	T	100105197	C	T	100105197	3	4	81	1	0	0	0	0	1	0	0	0	10603	623	22	2	638	2	NOX1	23	100105197	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	338	100105197	55165363	15314	18930											
NOX1	27035	broad.mit.edu	37	X	100117425	100117425	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:100117425G>A	ENST00000372966.3	-	6	832	c.627C>T	c.(625-627)caC>caT	p.H209H	NOX1_ENST00000372960.4_Silent_p.H172H|NOX1_ENST00000217885.5_Silent_p.H209H|NOX1_ENST00000372964.1_Intron	NM_007052.4|NM_013955.2	NP_008983.2|NP_039249.1	Q9Y5S8	NOX1_HUMAN	NADPH oxidase 1	209	Ferric oxidoreductase.				angiogenesis|cell migration|electron transport chain|FADH2 metabolic process|hydrogen peroxide metabolic process|inflammatory response|intracellular pH elevation|positive regulation of integrin biosynthetic process|positive regulation of smooth muscle cell proliferation|positive regulation vascular endothelial growth factor production|respiratory burst|response to pH|signal transduction|superoxide anion generation	cell junction|early endosome|invadopodium membrane|NADPH oxidase complex	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|Rac GTPase binding|superoxide-generating NADPH oxidase activity|voltage-gated proton channel activity			cervix(1)|lung(3)|ovary(1)|skin(2)	7						AGATAAAAAGGTGGTGAGTAT	0.443													105	168					0	0	1	0	0	A	100117425	G	A	100117425	2	1	81	1	0	0	0	0	0	0	0	1	10603	1252	44	2		2	NOX1	23	100117425	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	12228	100117425	55153135	15315	18931											
XKRX	402415	broad.mit.edu	37	X	100169500	100169500	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:100169500T>A	ENST00000328526.5	-	3	1781	c.1216A>T	c.(1216-1218)Att>Ttt	p.I406F	XKRX_ENST00000468904.1_3'UTR|XKRX_ENST00000372956.2_Missense_Mutation_p.I393F	NM_212559.2	NP_997724.2	Q6PP77	XKR2_HUMAN	XK, Kell blood group complex subunit-related, X-linked	393						integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(3)	22						CCAATGGAAATCAGATAAGCA	0.408													9	144					0	0	1	0	0	A	100169500	T	A	100169500	3	1	81	1	0	0	0	0	1	0	0	0	17499	1435	50	4	176	4	XKRX	23	100169500	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	52075	100169500	55101060	15316	18932											
XKRX	402415	broad.mit.edu	37	X	100183177	100183177	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:100183177G>T	ENST00000328526.5	-	1	721	c.156C>A	c.(154-156)ttC>ttA	p.F52L	XKRX_ENST00000468904.1_Missense_Mutation_p.F39L|XKRX_ENST00000372956.2_Missense_Mutation_p.F39L	NM_212559.2	NP_997724.2	Q6PP77	XKR2_HUMAN	XK, Kell blood group complex subunit-related, X-linked	39						integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(3)	22						AAAAGGTGGAGAAAAGGATGC	0.433													11	124					2.80697e-09	3.37799e-09	1	1	0	T	100183177	G	T	100183177	3	4	81	1	0	0	0	0	1	0	0	0	17499	933	33	4	1244	4	XKRX	23	100183177	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	13677	100183177	55087383	15317	18933											
TRMT2B	79979	broad.mit.edu	37	X	100274325	100274325	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:100274325C>A	ENST00000338687.7	-	11	1906	c.1101G>T	c.(1099-1101)aaG>aaT	p.K367N	TRMT2B_ENST00000372936.3_Missense_Mutation_p.K412N|TRMT2B_ENST00000372939.1_Missense_Mutation_p.K367N|TRMT2B_ENST00000372935.1_Missense_Mutation_p.K412N|TRMT2B_ENST00000372931.5_Missense_Mutation_p.K412N|TRMT2B_ENST00000545398.1_Missense_Mutation_p.K412N			Q96GJ1	TRM2_HUMAN	tRNA methyltransferase 2 homolog B (S. cerevisiae)	412							tRNA (uracil-5-)-methyltransferase activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	24						GTCCATCTTCCTTTGACTTTA	0.468													25	34					5.45024e-15	6.94259e-15	1	1	0	A	100274325	C	A	100274325	3	1	81	1	0	0	0	0	1	0	0	0	16627	680	24	4	290	4	TRMT2B	23	100274325	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	91148	100274325	54996235	15318	18934											
TRMT2B	79979	broad.mit.edu	37	X	100276145	100276145	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:100276145C>T	ENST00000338687.7	-	9	1681	c.876G>A	c.(874-876)ggG>ggA	p.G292G	TRMT2B_ENST00000372936.3_Silent_p.G337G|TRMT2B_ENST00000372939.1_Silent_p.G292G|TRMT2B_ENST00000372935.1_Silent_p.G337G|TRMT2B_ENST00000372931.5_Silent_p.G337G|TRMT2B_ENST00000545398.1_Silent_p.G337G			Q96GJ1	TRM2_HUMAN	tRNA methyltransferase 2 homolog B (S. cerevisiae)	337							tRNA (uracil-5-)-methyltransferase activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	24						CAGTCAGCTCCCCCACAGTCC	0.512													31	34					0	0	1	0	0	T	100276145	C	T	100276145	2	4	81	1	0	0	0	0	0	0	0	1	16627	610	22	2		2	TRMT2B	23	100276145	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1820	100276145	54994415	15319	18935											
CENPI	2491	broad.mit.edu	37	X	100356228	100356228	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:100356228G>A	ENST00000372927.1	+	2	446	c.169G>A	c.(169-171)Gct>Act	p.A57T	CENPI_ENST00000218507.5_Missense_Mutation_p.A57T|CENPI_ENST00000372926.1_Missense_Mutation_p.A57T|CENPI_ENST00000423383.1_Missense_Mutation_p.A57T	NM_006733.2	NP_006724.2	Q92674	CENPI_HUMAN	centromere protein I	57					CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	cytosol|kinetochore|nucleoplasm	protein binding			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(19)|prostate(1)|skin(2)	30						TTATGAACATGCTGATGATCA	0.398													34	81					0	0	1	0	0	A	100356228	G	A	100356228	3	1	81	1	0	0	0	0	1	0	0	0	3255	1319	46	2	171	2	CENPI	23	100356228	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	80083	100356228	54914332	15320	18936											
DRP2	1821	broad.mit.edu	37	X	100486730	100486730	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:100486730C>T	ENST00000395209.3	+	3	621	c.94C>T	c.(94-96)Cga>Tga	p.R32*	DRP2_ENST00000541709.1_Intron|DRP2_ENST00000538510.1_Nonsense_Mutation_p.R32*|DRP2_ENST00000402866.1_Nonsense_Mutation_p.R32*	NM_001939.2	NP_001930.2	Q13474	DRP2_HUMAN	dystrophin related protein 2	32					central nervous system development	cytoplasm|cytoskeleton	zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	31						CAGCAGCCTCCGAAGCACCTG	0.542													35	52					0	0	1	0	0	T	100486730	C	T	100486730	4	4	81	1	0	0	0	0	0	1	0	0	4790	644	23	1	96	1	DRP2	23	100486730	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	130502	100486730	54783830	15321	18937											
DRP2	1821	broad.mit.edu	37	X	100492743	100492743	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:100492743A>T	ENST00000395209.3	+	5	944	c.417A>T	c.(415-417)caA>caT	p.Q139H	DRP2_ENST00000541709.1_Missense_Mutation_p.Q61H|DRP2_ENST00000538510.1_Missense_Mutation_p.Q139H|DRP2_ENST00000402866.1_Missense_Mutation_p.Q139H	NM_001939.2	NP_001930.2	Q13474	DRP2_HUMAN	dystrophin related protein 2	139					central nervous system development	cytoplasm|cytoskeleton	zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	31						CCCTGGTGCAACAGGAGAAGG	0.542													30	86					0	0	1	0	0	T	100492743	A	T	100492743	3	4	81	1	0	0	0	0	1	0	0	0	4790	40	2	5	427	5	DRP2	23	100492743	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	6013	100492743	54777817	15322	18938											
DRP2	1821	broad.mit.edu	37	X	100503523	100503523	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:100503523G>A	ENST00000395209.3	+	14	2002	c.1475G>A	c.(1474-1476)cGg>cAg	p.R492Q	DRP2_ENST00000541709.1_Missense_Mutation_p.R414Q|DRP2_ENST00000538510.1_Missense_Mutation_p.R492Q|DRP2_ENST00000402866.1_Missense_Mutation_p.R492Q	NM_001939.2	NP_001930.2	Q13474	DRP2_HUMAN	dystrophin related protein 2	492					central nervous system development	cytoplasm|cytoskeleton	zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	31						GGAAAGATGCGGGCATTGTCT	0.433													33	332					0	0	1	0	0	A	100503523	G	A	100503523	3	1	81	1	0	0	0	0	1	0	0	0	4790	1116	39	1	1521	1	DRP2	23	100503523	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	10780	100503523	54767037	15323	18939											
TAF7L	54457	broad.mit.edu	37	X	100537368	100537368	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:100537368A>G	ENST00000372907.3	-	5	622	c.611T>C	c.(610-612)aTa>aCa	p.I204T	TAF7L_ENST00000324762.6_Missense_Mutation_p.I118T|TAF7L_ENST00000356784.1_Missense_Mutation_p.I118T|TAF7L_ENST00000372905.2_Missense_Mutation_p.I118T	NM_024885.3	NP_079161.3	Q5H9L4	TAF7L_HUMAN	TAF7-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 50kDa	204					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription initiation from RNA polymerase II promoter	cytoplasm|transcription factor TFIID complex	binding			NS(1)|breast(4)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						TTTCCTGACTATATTAGGATC	0.423													6	77					0	0	1	0	0	G	100537368	A	G	100537368	3	3	81	1	0	0	0	0	1	0	0	0	15590	449	16	3	813	3	TAF7L	23	100537368	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	33845	100537368	54733192	15324	18940											
BTK	695	broad.mit.edu	37	X	100604907	100604907	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:100604907C>A	ENST00000308731.7	-	19	2109	c.1946G>T	c.(1945-1947)aGc>aTc	p.S649I	BTK_ENST00000372880.1_Missense_Mutation_p.S473I	NM_000061.2	NP_000052.1	Q06187	BTK_HUMAN	Bruton agammaglobulinemia tyrosine kinase	649	Protein kinase.				calcium-mediated signaling|induction of apoptosis by extracellular signals|mesoderm development	cytosol|membrane raft|nucleus|plasma membrane	ATP binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol-3,4,5-trisphosphate binding			breast(4)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(25)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						TAGAATATTGCTCAGAAGAAT	0.403									Agammaglobulinemia, X-linked				7	233					8.12818e-05	8.94031e-05	1	1	0	A	100604907	C	A	100604907	3	1	81	1	0	0	0	0	1	0	0	0	1560	797	28	4	37	4	BTK	23	100604907	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	67539	100604907	54665653	15325	18941											
BTK	695	broad.mit.edu	37	X	100615566	100615566	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:100615566C>A	ENST00000308731.7	-	8	929	c.766G>T	c.(766-768)Gat>Tat	p.D256Y	BTK_ENST00000372880.1_Missense_Mutation_p.D256Y	NM_000061.2	NP_000052.1	Q06187	BTK_HUMAN	Bruton agammaglobulinemia tyrosine kinase	256	SH3.				calcium-mediated signaling|induction of apoptosis by extracellular signals|mesoderm development	cytosol|membrane raft|nucleus|plasma membrane	ATP binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol-3,4,5-trisphosphate binding			breast(4)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(25)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						CCATTTTTATCTCGTGCTCTC	0.483									Agammaglobulinemia, X-linked				11	93					2.27111e-07	2.65192e-07	1	1	0	A	100615566	C	A	100615566	3	1	81	1	0	0	0	0	1	0	0	0	1560	913	32	4	1261	4	BTK	23	100615566	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	10659	100615566	54654994	15326	18942											
GLA	2717	broad.mit.edu	37	X	100662704	100662704	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:100662704C>T	ENST00000218516.3	-	1	209	c.188G>A	c.(187-189)tGc>tAc	p.C63Y	RPL36A-HNRNPH2_ENST00000409170.3_Intron|GLA_ENST00000479445.1_5'UTR	NM_000169.2	NP_000160.1	P06280	AGAL_HUMAN	galactosidase, alpha	63					glycoside catabolic process|glycosphingolipid catabolic process|glycosylceramide catabolic process|negative regulation of nitric oxide biosynthetic process|negative regulation of nitric-oxide synthase activity|oligosaccharide metabolic process	extracellular region|Golgi apparatus|lysosome	cation binding|protein homodimerization activity|raffinose alpha-galactosidase activity|receptor binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(8)	14					Agalsidase beta(DB00103)	ATACCTGATGCAGGAATCTGG	0.537													5	98					0	0	1	0	0	T	100662704	C	T	100662704	3	4	81	1	0	0	0	0	1	0	0	0	6468	710	25	2	1129	2	GLA	23	100662704	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	47138	100662704	54607856	15327	18943											
GLA	2717	broad.mit.edu	37	X	100662836	100662836	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:100662836A>C	ENST00000218516.3	-	1	77	c.56T>G	c.(55-57)cTg>cGg	p.L19R	RPL36A-HNRNPH2_ENST00000409170.3_Intron|GLA_ENST00000479445.1_5'UTR	NM_000169.2	NP_000160.1	P06280	AGAL_HUMAN	galactosidase, alpha	19					glycoside catabolic process|glycosphingolipid catabolic process|glycosylceramide catabolic process|negative regulation of nitric oxide biosynthetic process|negative regulation of nitric-oxide synthase activity|oligosaccharide metabolic process	extracellular region|Golgi apparatus|lysosome	cation binding|protein homodimerization activity|raffinose alpha-galactosidase activity|receptor binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(8)	14					Agalsidase beta(DB00103)	AACGAGGGCCAGGAAGCGAAG	0.602													12	98					0	0	1	0	0	C	100662836	A	C	100662836	3	2	81	1	0	0	0	0	1	0	0	0	6468	188	7	5	1261	5	GLA	23	100662836	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	132	100662836	54607724	15328	18944											
HNRNPH2	3188	broad.mit.edu	37	X	100667626	100667626	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:100667626G>T	ENST00000316594.5	+	2	728	c.650G>T	c.(649-651)aGa>aTa	p.R217I		NM_001032393.2|NM_001199973.1|NM_001199974.1|NM_019597.4	NP_001027565.1|NP_001186902.1|NP_001186903.1|NP_062543.1	P55795	HNRH2_HUMAN	heterogeneous nuclear ribonucleoprotein H2 (H')	217					nuclear mRNA splicing, via spliceosome	actin cytoskeleton|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding			breast(3)|large_intestine(2)|lung(6)|skin(1)	12						GGGGCTGGCAGAGGGTATAAT	0.537													11	60					2.80697e-09	3.37799e-09	1	1	0	T	100667626	G	T	100667626	3	4	81	1	0	0	0	0	1	0	0	0	7308	942	33	4	652	4	HNRNPH2	23	100667626	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	4790	100667626	54602934	15329	18945											
HNRNPH2	3188	broad.mit.edu	37	X	100667953	100667953	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:100667953G>T	ENST00000316594.5	+	2	1055	c.977G>T	c.(976-978)aGa>aTa	p.R326I		NM_001032393.2|NM_001199973.1|NM_001199974.1|NM_019597.4	NP_001027565.1|NP_001186902.1|NP_001186903.1|NP_062543.1	P55795	HNRH2_HUMAN	heterogeneous nuclear ribonucleoprotein H2 (H')	326	2 X 16 AA Gly-rich approximate repeats.|RRM 3.				nuclear mRNA splicing, via spliceosome	actin cytoskeleton|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding			breast(3)|large_intestine(2)|lung(6)|skin(1)	12						CCCGATGGCAGAGTTACCGGT	0.423													15	163					2.61681e-11	3.23796e-11	1	1	0	T	100667953	G	T	100667953	3	4	81	1	0	0	0	0	1	0	0	0	7308	942	33	4	979	4	HNRNPH2	23	100667953	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	327	100667953	54602607	15330	18946											
HNRNPH2	3188	broad.mit.edu	37	X	100668321	100668321	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:100668321G>A	ENST00000316594.5	+	2	1423	c.1345G>A	c.(1345-1347)Gct>Act	p.A449T		NM_001032393.2|NM_001199973.1|NM_001199974.1|NM_019597.4	NP_001027565.1|NP_001186902.1|NP_001186903.1|NP_062543.1	P55795	HNRH2_HUMAN	heterogeneous nuclear ribonucleoprotein H2 (H')	449					nuclear mRNA splicing, via spliceosome	actin cytoskeleton|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding			breast(3)|large_intestine(2)|lung(6)|skin(1)	12						GTCAAACCTTGCTTAGGTAGA	0.428													15	182					0	0	1	0	0	A	100668321	G	A	100668321	3	1	81	1	0	0	0	0	1	0	0	0	7308	1319	46	2	1347	2	HNRNPH2	23	100668321	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	368	100668321	54602239	15331	18947											
TCEAL6	158931	broad.mit.edu	37	X	101396115	101396115	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:101396115C>A	ENST00000372774.3	-	3	438	c.189G>T	c.(187-189)aaG>aaT	p.K63N	TCEAL6_ENST00000372773.1_Missense_Mutation_p.K63N	NM_001006938.2	NP_001006939.2	Q6IPX3	TCAL6_HUMAN	transcription elongation factor A (SII)-like 6	63	Glu-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	14						CCTGGCTTCCCTTATCTTCCA	0.617													39	73					5.71845e-15	7.28219e-15	1	1	0	A	101396115	C	A	101396115	3	1	81	1	0	0	0	0	1	0	0	0	15735	680	24	4	366	4	TCEAL6	23	101396115	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	727794	101396115	53874445	15332	18948											
GPRASP1	9737	broad.mit.edu	37	X	101911928	101911928	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:101911928G>A	ENST00000537097.1	+	6	3900	c.3087G>A	c.(3085-3087)acG>acA	p.T1029T	GPRASP1_ENST00000444152.1_Silent_p.T1029T|GPRASP1_ENST00000361600.5_Silent_p.T1029T|GPRASP1_ENST00000415986.1_Silent_p.T1029T|RP4-769N13.7_ENST00000602441.1_RNA	NM_001184727.1	NP_001171656.1	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting protein 1	1029	OPRD1-binding.					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						GCAGGTCCACGTGTTCAGTTG	0.557													57	105					0	0	1	0	0	A	101911928	G	A	101911928	2	1	81	1	0	0	0	0	0	0	0	1	6763	1132	40	1		1	GPRASP1	23	101911928	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	515813	101911928	53358632	15333	18949											
GPRASP1	9737	broad.mit.edu	37	X	101912339	101912339	+	Silent	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:101912339T>A	ENST00000537097.1	+	6	4311	c.3498T>A	c.(3496-3498)atT>atA	p.I1166I	GPRASP1_ENST00000444152.1_Silent_p.I1166I|GPRASP1_ENST00000361600.5_Silent_p.I1166I|GPRASP1_ENST00000415986.1_Silent_p.I1166I|RP4-769N13.7_ENST00000602441.1_RNA	NM_001184727.1	NP_001171656.1	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting protein 1	1166	OPRD1-binding.					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						TGGAAAAAATTCGGGATCCTT	0.373													27	50					0	0	1	0	0	A	101912339	T	A	101912339	2	1	81	1	0	0	0	0	0	0	0	1	6763	1771	62	5		5	GPRASP1	23	101912339	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	411	101912339	53358221	15334	18950											
GPRASP1	9737	broad.mit.edu	37	X	101912597	101912597	+	Silent	SNP	G	G	A	rs142372042		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:101912597G>A	ENST00000537097.1	+	6	4569	c.3756G>A	c.(3754-3756)ccG>ccA	p.P1252P	GPRASP1_ENST00000444152.1_Silent_p.P1252P|GPRASP1_ENST00000361600.5_Silent_p.P1252P|GPRASP1_ENST00000415986.1_Silent_p.P1252P|RP4-769N13.7_ENST00000602441.1_RNA	NM_001184727.1	NP_001171656.1	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting protein 1	1252	OPRD1-binding.					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						TGGATTCCCCGGAACAGCTGT	0.413													15	138					0	0	1	0	0	A	101912597	G	A	101912597	2	1	81	1	0	0	0	0	0	0	0	1	6763	1103	39	1		1	GPRASP1	23	101912597	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	258	101912597	53357963	15335	18951											
GPRASP2	114928	broad.mit.edu	37	X	101971015	101971015	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:101971015C>A	ENST00000543253.1	+	5	2137	c.1218C>A	c.(1216-1218)atC>atA	p.I406I	GPRASP2_ENST00000332262.5_Silent_p.I406I|GPRASP2_ENST00000535209.1_Silent_p.I406I	NM_001004051.3|NM_001184874.2|NM_001184876.2	NP_001004051.1|NP_001171803.1|NP_001171805.1			G protein-coupled receptor associated sorting protein 2											breast(3)|endometrium(5)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	30						CTTCAGCAATCTGTGAATCTG	0.547													8	89					0.000673444	0.000721718	1	1	0	A	101971015	C	A	101971015	2	1	81	1	0	0	0	0	0	0	0	1	6764	903	32	4		4	GPRASP2	23	101971015	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	58418	101971015	53299545	15336	18952											
GPRASP2	114928	broad.mit.edu	37	X	101971332	101971332	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:101971332G>A	ENST00000543253.1	+	5	2454	c.1535G>A	c.(1534-1536)aGc>aAc	p.S512N	GPRASP2_ENST00000332262.5_Missense_Mutation_p.S512N|GPRASP2_ENST00000535209.1_Missense_Mutation_p.S512N	NM_001004051.3|NM_001184874.2|NM_001184876.2	NP_001004051.1|NP_001171803.1|NP_001171805.1			G protein-coupled receptor associated sorting protein 2											breast(3)|endometrium(5)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	30						CGATCCACAAGCCCCTTTGGA	0.512													12	100					0	0	1	0	0	A	101971332	G	A	101971332	3	1	81	1	0	0	0	0	1	0	0	0	6764	971	34	2	1537	2	GPRASP2	23	101971332	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	317	101971332	53299228	15337	18953											
BHLHB9	80823	broad.mit.edu	37	X	102005007	102005007	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:102005007A>G	ENST00000372735.1	+	4	1669	c.1084A>G	c.(1084-1086)Aac>Gac	p.N362D	BHLHB9_ENST00000448867.1_Missense_Mutation_p.N362D|BHLHB9_ENST00000457056.1_Missense_Mutation_p.N362D|BHLHB9_ENST00000361229.4_Missense_Mutation_p.N362D|BHLHB9_ENST00000447531.1_Missense_Mutation_p.N362D			Q6PI77	BHLH9_HUMAN	basic helix-loop-helix domain containing, class B, 9	362						cytoplasm|nucleus	binding			cervix(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						AGAGTTTATTAACGAAGTAGG	0.388													6	62					0	0	1	0	0	G	102005007	A	G	102005007	3	3	81	1	0	0	0	0	1	0	0	0	1419	362	13	3	1086	3	BHLHB9	23	102005007	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	33675	102005007	53265553	15338	18954											
RAB40AL	282808	broad.mit.edu	37	X	102192394	102192394	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:102192394G>A	ENST00000218249.5	+	1	195	c.148G>A	c.(148-150)Gac>Aac	p.D50N		NM_001031834.1	NP_001027004.1	P0C0E4	RB40L_HUMAN	RAB40A, member RAS oncogene family-like	50					protein transport|small GTPase mediated signal transduction	mitochondrion|plasma membrane	GTP binding			endometrium(4)|large_intestine(2)|lung(3)|ovary(3)	12						GGGGGGAATCGACTACAAGAC	0.607													42	76					0	0	1	0	0	A	102192394	G	A	102192394	3	1	81	1	0	0	0	0	1	0	0	0	12992	1058	37	1	150	1	RAB40AL	23	102192394	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	187387	102192394	53078166	15339	18955											
RAB40AL	282808	broad.mit.edu	37	X	102192955	102192955	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:102192955C>T	ENST00000218249.5	+	1	756	c.709C>T	c.(709-711)Cga>Tga	p.R237*	LL0XNC01-237H1.3_ENST00000413528.1_RNA	NM_001031834.1	NP_001027004.1	P0C0E4	RB40L_HUMAN	RAB40A, member RAS oncogene family-like	237					protein transport|small GTPase mediated signal transduction	mitochondrion|plasma membrane	GTP binding	p.R237*(2)		endometrium(4)|large_intestine(2)|lung(3)|ovary(3)	12						CAGGATGATGCGAGGCCTCTC	0.572													59	99					0	0	1	0	0	T	102192955	C	T	102192955	4	4	81	1	0	0	0	0	0	1	0	0	12992	760	27	1	711	1	RAB40AL	23	102192955	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	561	102192955	53077605	15340	18956											
BEX1	55859	broad.mit.edu	37	X	102317981	102317981	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:102317981C>A	ENST00000372728.3	-	3	461	c.222G>T	c.(220-222)caG>caT	p.Q74H		NM_018476.3	NP_060946.3	Q9HBH7	BEX1_HUMAN	brain expressed, X-linked 1	74					cell differentiation|nervous system development	cytoplasm|nucleus				endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|skin(2)	12						TCATCCTTGCCTGTGGTTCTC	0.507													16	151					2.35188e-11	2.91332e-11	1	1	0	A	102317981	C	A	102317981	3	1	81	1	0	0	0	0	1	0	0	0	1409	680	24	4	159	4	BEX1	23	102317981	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	125026	102317981	52952579	15341	18957											
BEX1	55859	broad.mit.edu	37	X	102318100	102318100	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:102318100C>T	ENST00000372728.3	-	3	342	c.103G>A	c.(103-105)Gcc>Acc	p.A35T		NM_018476.3	NP_060946.3	Q9HBH7	BEX1_HUMAN	brain expressed, X-linked 1	35					cell differentiation|nervous system development	cytoplasm|nucleus		p.A35T(1)		endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|skin(2)	12						AAAGGGAGGGCCAAGGGCTCC	0.488													20	240					0	0	1	0	0	T	102318100	C	T	102318100	3	4	81	1	0	0	0	0	1	0	0	0	1409	739	26	2	278	2	BEX1	23	102318100	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	119	102318100	52952460	15342	18958											
NXF3	56000	broad.mit.edu	37	X	102334163	102334163	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:102334163C>A	ENST00000395065.3	-	16	1465	c.1364G>T	c.(1363-1365)gGg>gTg	p.G455V	NXF3_ENST00000425644.1_Missense_Mutation_p.G127V	NM_022052.1	NP_071335.1	Q9H4D5	NXF3_HUMAN	nuclear RNA export factor 3	455	NTF2.					cytoplasm|nuclear RNA export factor complex	nucleocytoplasmic transporter activity|nucleotide binding|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						CTTGAACACCCCGTTGACAGA	0.587													20	282					1.28384e-07	1.50386e-07	1	1	0	A	102334163	C	A	102334163	3	1	81	1	0	0	0	0	1	0	0	0	10833	623	22	5	247	5	NXF3	23	102334163	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	16063	102334163	52936397	15343	18959											
NXF3	56000	broad.mit.edu	37	X	102338621	102338621	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:102338621C>A	ENST00000395065.3	-	4	453		c.e4-1		NXF3_ENST00000425463.2_Splice_Site|NXF3_ENST00000425644.1_Splice_Site	NM_022052.1	NP_071335.1	Q9H4D5	NXF3_HUMAN	nuclear RNA export factor 3							cytoplasm|nuclear RNA export factor complex	nucleocytoplasmic transporter activity|nucleotide binding|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						CAAAGGGAACCTATGAGTGAA	0.388													25	97					3.28513e-13	4.13666e-13	1	1	0	A	102338621	C	A	102338621	5	1	81	1	0	0	0	0	0	0	1	0	10833	695	24	4	1308	4	NXF3	23	102338621	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	4458	102338621	52931939	15344	18960											
BEX4	56271	broad.mit.edu	37	X	102471115	102471115	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:102471115C>A	ENST00000372695.5	+	3	269	c.34C>A	c.(34-36)Ctc>Atc	p.L12I	BEX4_ENST00000372691.3_Missense_Mutation_p.L12I	NM_001080425.3	NP_001073894.1	Q9NWD9	BEX4_HUMAN	brain expressed, X-linked 4	12						cytoplasm|nucleus				endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)	9						GGCAAACAATCTCAACGGGGA	0.512													5	46					8.12818e-05	8.94031e-05	1	1	0	A	102471115	C	A	102471115	3	1	81	1	0	0	0	0	1	0	0	0	1411	913	32	4	36	4	BEX4	23	102471115	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	132494	102471115	52799445	15345	18961											
BEX2	84707	broad.mit.edu	37	X	102564673	102564673	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:102564673C>T	ENST00000536889.1	-	3	685	c.328G>A	c.(328-330)Gca>Aca	p.A110T	BEX2_ENST00000372674.1_Missense_Mutation_p.A78T|BEX2_ENST00000372677.3_Missense_Mutation_p.A78T	NM_001168399.1|NM_001168400.1	NP_001161871.1|NP_001161872.1	Q9BXY8	BEX2_HUMAN	brain expressed X-linked 2	78					apoptosis|cell cycle|regulation of apoptosis|regulation of cell cycle	cytoplasm|nucleus				endometrium(1)|lung(1)|ovary(1)	3						CTCATCCTTGCCTGTGGCTCT	0.512													18	188					0	0	1	0	0	T	102564673	C	T	102564673	3	4	81	1	0	0	0	0	1	0	0	0	1410	739	26	2	158	2	BEX2	23	102564673	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	93558	102564673	52705887	15346	18962											
RAB40A	142684	broad.mit.edu	37	X	102754930	102754930	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:102754930C>T	ENST00000372633.1	-	1	2873	c.755G>A	c.(754-756)aGc>aAc	p.S252N	LL0XNC01-250H12.3_ENST00000445990.1_RNA|RAB40A_ENST00000304236.1_Missense_Mutation_p.S252N			Q8WXH6	RB40A_HUMAN	RAB40A, member RAS oncogene family	252					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1)	12						TTTGCAGAGGCTGCTCTTGTG	0.537													10	108					0	0	1	0	0	T	102754930	C	T	102754930	3	4	81	1	0	0	0	0	1	0	0	0	12991	797	28	2	82	2	RAB40A	23	102754930	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	190257	102754930	52515630	15347	18963											
PLP1	5354	broad.mit.edu	37	X	103040568	103040568	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:103040568C>T	ENST00000418604.1	+	3	342	c.62C>T	c.(61-63)gCc>gTc	p.A21V	PLP1_ENST00000303958.2_Missense_Mutation_p.A21V|PLP1_ENST00000361621.2_Missense_Mutation_p.A21V	NM_001128834.1	NP_001122306.1	P60201	MYPR_HUMAN	proteolipid protein 1	21					cell death|synaptic transmission	integral to membrane				breast(1)|endometrium(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	17						TCCCTGGTGGCCACTGGATTG	0.517													89	129					0	0	1	0	0	T	103040568	C	T	103040568	3	4	81	1	0	0	0	0	1	0	0	0	12152	739	26	2	68	2	PLP1	23	103040568	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	285638	103040568	52229992	15348	18964											
ESX1	80712	broad.mit.edu	37	X	103499526	103499526	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:103499526T>C	ENST00000372588.4	-	1	88	c.5A>G	c.(4-6)gAg>gGg	p.E2G		NM_153448.3	NP_703149.1	Q8N693	ESX1_HUMAN	ESX homeobox 1	2					negative regulation of transcription, DNA-dependent|regulation of cell cycle	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(10)|lung(12)|ovary(1)|skin(2)	27						GCGAAGAGACTCCATGCTTCA	0.592													56	82					0	0	1	0	0	C	103499526	T	C	103499526	3	2	81	1	0	0	0	0	1	0	0	0	5291	1551	54	3	1231	3	ESX1	23	103499526	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	458958	103499526	51771034	15349	18965											
TEX13A	56157	broad.mit.edu	37	X	104465051	104465051	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:104465051C>T	ENST00000372578.3	-	2	142	c.31G>A	c.(31-33)Ggg>Agg	p.G11R	IL1RAPL2_ENST00000372582.1_Intron|TEX13A_ENST00000372575.1_Missense_Mutation_p.G11R|IL1RAPL2_ENST00000344799.4_Intron|TEX13A_ENST00000413579.1_Missense_Mutation_p.G11R	NM_031274.3	NP_112564.1	Q9BXU3	TX13A_HUMAN	testis expressed 13A	11						intracellular	zinc ion binding			large_intestine(5)|ovary(2)|upper_aerodigestive_tract(1)	8						TGCCGGAACCCGCTACTGGGG	0.537													13	22					0	0	1	0	0	T	104465051	C	T	104465051	3	4	81	1	0	0	0	0	1	0	0	0	15835	652	23	1	1208	1	TEX13A	23	104465051	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	965525	104465051	50805509	15350	18966											
IL1RAPL2	26280	broad.mit.edu	37	X	104728341	104728341	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:104728341C>T	ENST00000372582.1	+	6	1490	c.734C>T	c.(733-735)cCc>cTc	p.P245L	IL1RAPL2_ENST00000344799.4_Missense_Mutation_p.P245L	NM_017416.1	NP_059112.1	Q9NP60	IRPL2_HUMAN	interleukin 1 receptor accessory protein-like 2	245	Ig-like C2-type 3.				central nervous system development|innate immune response	integral to membrane	interleukin-1, Type II, blocking receptor activity			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						CCATTGTTCCCCATGGAGAAT	0.408													32	54					0	0	1	0	0	T	104728341	C	T	104728341	3	4	81	1	0	0	0	0	1	0	0	0	7706	623	22	2	752	2	IL1RAPL2	23	104728341	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	263290	104728341	50542219	15351	18967											
NRK	203447	broad.mit.edu	37	X	105193586	105193586	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:105193586C>A	ENST00000428173.2	+	27	4679	c.4376C>A	c.(4375-4377)cCa>cAa	p.P1459Q	NRK_ENST00000540278.1_Intron|NRK_ENST00000243300.9_Missense_Mutation_p.P1458Q			Q7Z2Y5	NRK_HUMAN	Nik related kinase	1458	CNH.						ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						ATCATTATACCACAGAATATC	0.378										HNSCC(51;0.14)			20	43					1.01871e-10	1.25121e-10	1	1	0	A	105193586	C	A	105193586	3	1	81	1	0	0	0	0	1	0	0	0	10703	594	21	5	4479	5	NRK	23	105193586	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	465245	105193586	50076974	15352	18968											
MUM1L1	139221	broad.mit.edu	37	X	105450704	105450704	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:105450704G>A	ENST00000337685.2	+	5	2064	c.1279G>A	c.(1279-1281)Gca>Aca	p.A427T	MUM1L1_ENST00000372552.1_Missense_Mutation_p.A427T|MUM1L1_ENST00000357175.2_Missense_Mutation_p.A427T	NM_152423.4	NP_689636.3	Q5H9M0	MUML1_HUMAN	melanoma associated antigen (mutated) 1-like 1	427	PWWP.									autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						TTTTGTTGAGGCAAACATGAA	0.338													13	16					0	0	1	0	0	A	105450704	G	A	105450704	3	1	81	1	0	0	0	0	1	0	0	0	10034	1203	42	2	1281	2	MUM1L1	23	105450704	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	257118	105450704	49819856	15353	18969											
RNF128	79589	broad.mit.edu	37	X	106016254	106016254	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:106016254A>T	ENST00000255499.2	+	2	846	c.596A>T	c.(595-597)cAt>cTt	p.H199L	RNF128_ENST00000324342.3_Missense_Mutation_p.H173L	NM_194463.1	NP_919445.1	Q8TEB7	RN128_HUMAN	ring finger protein 128, E3 ubiquitin protein ligase	199						endomembrane system|integral to membrane|perinuclear region of cytoplasm	zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)	11						GGGAAAAAACATGGCCCTTGG	0.373													47	103					0	0	1	0	0	T	106016254	A	T	106016254	3	4	81	1	0	0	0	0	1	0	0	0	13488	217	8	4	1012	4	RNF128	23	106016254	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	565550	106016254	49254306	15354	18970											
TBC1D8B	54885	broad.mit.edu	37	X	106108807	106108807	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:106108807G>T	ENST00000357242.5	+	15	2545	c.2371G>T	c.(2371-2373)Gat>Tat	p.D791Y	TBC1D8B_ENST00000276175.3_Missense_Mutation_p.D785Y	NM_017752.2	NP_060222.2	Q0IIM8	TBC8B_HUMAN	TBC1 domain family, member 8B (with GRAM domain)	791						intracellular	calcium ion binding|Rab GTPase activator activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						TGTATCACAAGATGTGAAATT	0.289													25	46					5.09552e-08	6.01661e-08	1	1	0	T	106108807	G	T	106108807	3	4	81	1	0	0	0	0	1	0	0	0	15686	942	33	4	2495	4	TBC1D8B	23	106108807	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	92553	106108807	49161753	15355	18971											
CLDN2	9075	broad.mit.edu	37	X	106171567	106171567	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:106171567G>A	ENST00000541806.1	+	2	628	c.109G>A	c.(109-111)Ggt>Agt	p.G37S	CLDN2_ENST00000336803.1_Missense_Mutation_p.G37S|CLDN2_ENST00000540876.1_Missense_Mutation_p.G37S	NM_001171092.1	NP_001164563.1	P57739	CLD2_HUMAN	claudin 2	37					calcium-independent cell-cell adhesion	integral to membrane|tight junction	identical protein binding|structural molecule activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	9						TTCTTATGTCGGTGCCAGCAT	0.547													5	94					0	0	1	0	0	A	106171567	G	A	106171567	3	1	81	1	0	0	0	0	1	0	0	0	3504	1116	39	1	111	1	CLDN2	23	106171567	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	62760	106171567	49098993	15356	18972	96	2									
CLDN2	9075	broad.mit.edu	37	X	106171575	106171575	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:106171575C>T	ENST00000541806.1	+	2	636	c.117C>T	c.(115-117)agC>agT	p.S39S	CLDN2_ENST00000336803.1_Silent_p.S39S|CLDN2_ENST00000540876.1_Silent_p.S39S	NM_001171092.1	NP_001164563.1	P57739	CLD2_HUMAN	claudin 2	39					calcium-independent cell-cell adhesion	integral to membrane|tight junction	identical protein binding|structural molecule activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	9						TCGGTGCCAGCATTGTGACAG	0.552													38	60					0	0	1	0	0	T	106171575	C	T	106171575	2	4	81	1	0	0	0	0	0	0	0	1	3504	709	25	2		2	CLDN2	23	106171575	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	8	106171575	49098985	15357	18973	96	2									
CLDN2	9075	broad.mit.edu	37	X	106171742	106171742	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:106171742G>A	ENST00000541806.1	+	2	803	c.284G>A	c.(283-285)tGc>tAc	p.C95Y	CLDN2_ENST00000336803.1_Missense_Mutation_p.C95Y|CLDN2_ENST00000540876.1_Missense_Mutation_p.C95Y	NM_001171092.1	NP_001164563.1	P57739	CLD2_HUMAN	claudin 2	95					calcium-independent cell-cell adhesion	integral to membrane|tight junction	identical protein binding|structural molecule activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	9						TCCCTGGCCTGCATTATCTCT	0.562													12	89					0	0	1	0	0	A	106171742	G	A	106171742	3	1	81	1	0	0	0	0	1	0	0	0	3504	1319	46	2	286	2	CLDN2	23	106171742	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	167	106171742	49098818	15358	18974											
MORC4	79710	broad.mit.edu	37	X	106185816	106185816	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:106185816G>T	ENST00000355610.4	-	15	2579	c.2305C>A	c.(2305-2307)Ctg>Atg	p.L769M	MORC4_ENST00000535534.1_Missense_Mutation_p.L517M|MORC4_ENST00000255495.7_Missense_Mutation_p.L769M	NM_001085354.2|NM_024657.4	NP_001078823.1|NP_078933.3	Q8TE76	MORC4_HUMAN	MORC family CW-type zinc finger 4	769							ATP binding|zinc ion binding			endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	28						AATTCTTCCAGCTCTCTCTGG	0.458													14	168					4.36969e-10	5.3233e-10	1	1	0	T	106185816	G	T	106185816	3	4	81	1	0	0	0	0	1	0	0	0	9753	962	34	4	520	4	MORC4	23	106185816	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	14074	106185816	49084744	15359	18975											
RBM41	55285	broad.mit.edu	37	X	106310818	106310818	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:106310818A>G	ENST00000372487.1	-	7	1207	c.1181T>C	c.(1180-1182)cTc>cCc	p.L394P	RBM41_ENST00000372479.3_Missense_Mutation_p.L394P	NM_001171080.1	NP_001164551.1	Q96IZ5	RBM41_HUMAN	RNA binding motif protein 41	394							nucleotide binding|RNA binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	13						AGTCGCTTGGAGATTTGACCG	0.383													7	262					0	0	1	0	0	G	106310818	A	G	106310818	3	3	81	1	0	0	0	0	1	0	0	0	13187	304	11	3	73	3	RBM41	23	106310818	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	125002	106310818	48959742	15360	18976											
TSC22D3	1831	broad.mit.edu	37	X	107018362	107018362	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:107018362C>A	ENST00000372383.4	-	1	655	c.288G>T	c.(286-288)caG>caT	p.Q96H	TSC22D3_ENST00000506081.1_Missense_Mutation_p.Q96H|TSC22D3_ENST00000372384.2_Missense_Mutation_p.Q96H|TSC22D3_ENST00000315660.4_Missense_Mutation_p.Q96H|TSC22D3_ENST00000514426.1_Missense_Mutation_p.Q28H	NM_198057.2	NP_932174.1	Q99576	T22D3_HUMAN	TSC22 domain family, member 3	0	Leucine-zipper.						sequence-specific DNA binding transcription factor activity			breast(1)|large_intestine(2)|lung(3)	6						AGAGCATGGTCTGGTCGATGT	0.607													9	97					1.12685e-05	1.27052e-05	1	1	0	A	107018362	C	A	107018362	3	1	81	1	0	0	0	0	1	0	0	0	16670	912	32	4	452	4	TSC22D3	23	107018362	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	707544	107018362	48252198	15361	18977											
TEX13B	56156	broad.mit.edu	37	X	107225148	107225148	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:107225148G>A	ENST00000302917.1	-	2	302	c.210C>T	c.(208-210)ggC>ggT	p.G70G		NM_031273.2	NP_112563.1	Q9BXU2	TX13B_HUMAN	testis expressed 13B	70										breast(1)|endometrium(5)|large_intestine(4)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	28						AGGCCAGGCTGCCCCAGGTGC	0.597													45	93					0	0	1	0	0	A	107225148	G	A	107225148	2	1	81	1	0	0	0	0	0	0	0	1	15836	1306	46	2		2	TEX13B	23	107225148	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	206786	107225148	48045412	15362	18978											
VSIG1	340547	broad.mit.edu	37	X	107288394	107288394	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:107288394C>T	ENST00000415430.3	+	1	195	c.34C>T	c.(34-36)Cta>Tta	p.L12L	VSIG1_ENST00000217957.5_Silent_p.L12L	NM_001170553.1	NP_001164024.1	Q86XK7	VSIG1_HUMAN	V-set and immunoglobulin domain containing 1	12						integral to membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	17						CTTTCTGATCCTAAGCTGCCT	0.408													8	15					0	0	1	0	0	T	107288394	C	T	107288394	2	4	81	1	0	0	0	0	0	0	0	1	17282	680	24	2		2	VSIG1	23	107288394	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	63246	107288394	47982166	15363	18979											
VSIG1	340547	broad.mit.edu	37	X	107301375	107301375	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:107301375G>T	ENST00000415430.3	+	2	318	c.157G>T	c.(157-159)Gaa>Taa	p.E53*	VSIG1_ENST00000217957.5_Nonsense_Mutation_p.E53*	NM_001170553.1	NP_001164024.1	Q86XK7	VSIG1_HUMAN	V-set and immunoglobulin domain containing 1	53	Ig-like V-type 1.					integral to membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	17						GGCCTCCCGAGAACAGCTTTC	0.468													27	47					3.73148e-12	4.65439e-12	1	1	0	T	107301375	G	T	107301375	4	4	81	1	0	0	0	0	0	1	0	0	17282	943	33	4	163	4	VSIG1	23	107301375	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	12981	107301375	47969185	15364	18980											
VSIG1	340547	broad.mit.edu	37	X	107310334	107310334	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:107310334A>C	ENST00000415430.3	+	4	651	c.490A>C	c.(490-492)Aac>Cac	p.N164H	VSIG1_ENST00000485533.1_3'UTR|VSIG1_ENST00000217957.5_Missense_Mutation_p.N128H	NM_001170553.1	NP_001164024.1	Q86XK7	VSIG1_HUMAN	V-set and immunoglobulin domain containing 1	128	Ig-like C2-type 2.					integral to membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	17						TCTCGGCCAAAACCAAGGCAT	0.448													68	97					0	0	1	0	0	C	107310334	A	C	107310334	3	2	81	1	0	0	0	0	1	0	0	0	17282	14	1	5	504	5	VSIG1	23	107310334	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	8959	107310334	47960226	15365	18981											
ATG4A	115201	broad.mit.edu	37	X	107381354	107381354	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:107381354G>T	ENST00000372232.3	+	9	906	c.747G>T	c.(745-747)aaG>aaT	p.K249N	ATG4A_ENST00000545696.1_Intron|ATG4A_ENST00000372254.3_Missense_Mutation_p.K225N|ATG4A_ENST00000345734.3_Intron	NM_052936.3	NP_443168.2	Q8WYN0	ATG4A_HUMAN	autophagy related 4A, cysteine peptidase	249					autophagy|protein transport|proteolysis	cytoplasm	cysteine-type peptidase activity			endometrium(3)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)	11						AGTGTTTTAAGATGCCACAGT	0.448													71	130					8.79861e-51	1.18465e-50	1	1	0	T	107381354	G	T	107381354	3	4	81	1	0	0	0	0	1	0	0	0	1095	933	33	4	781	4	ATG4A	23	107381354	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	71020	107381354	47889206	15366	18982											
COL4A6	1288	broad.mit.edu	37	X	107420134	107420134	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:107420134C>A	ENST00000394872.2	-	28	2857	c.2626G>T	c.(2626-2628)Gga>Tga	p.G876*	COL4A6_ENST00000372216.4_Nonsense_Mutation_p.G876*|COL4A6_ENST00000538570.1_Nonsense_Mutation_p.G875*|COL4A6_ENST00000545689.1_Nonsense_Mutation_p.G875*|COL4A6_ENST00000334504.7_Nonsense_Mutation_p.G875*			Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	876	Triple-helical region.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						CCTTTCAGTCCTACTAGGCCT	0.537									Alport syndrome with Diffuse Leiomyomatosis				18	213					1.00905e-13	1.27467e-13	1	1	0	A	107420134	C	A	107420134	4	1	81	1	0	0	0	0	0	1	0	0	3718	690	24	4	2521	4	COL4A6	23	107420134	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	38780	107420134	47850426	15367	18983											
COL4A6	1288	broad.mit.edu	37	X	107436903	107436903	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:107436903G>A	ENST00000394872.2	-	17	1261	c.1030C>T	c.(1030-1032)Cca>Tca	p.P344S	COL4A6_ENST00000372216.4_Missense_Mutation_p.P344S|COL4A6_ENST00000538570.1_Missense_Mutation_p.P343S|COL4A6_ENST00000545689.1_Missense_Mutation_p.P343S|COL4A6_ENST00000334504.7_Missense_Mutation_p.P343S			Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	344	Triple-helical region.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						TCTGGGCCTGGCAGGCCAATG	0.383									Alport syndrome with Diffuse Leiomyomatosis				51	89					0	0	1	0	0	A	107436903	G	A	107436903	3	1	81	1	0	0	0	0	1	0	0	0	3718	1203	42	2	4161	2	COL4A6	23	107436903	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	16769	107436903	47833657	15368	18984											
COL4A6	1288	broad.mit.edu	37	X	107554055	107554055	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:107554055C>A	ENST00000394872.2	-	3	298	c.67G>T	c.(67-69)Gag>Tag	p.E23*	COL4A6_ENST00000372216.4_Nonsense_Mutation_p.E24*|COL4A6_ENST00000538570.1_Nonsense_Mutation_p.E23*|COL4A6_ENST00000461897.1_5'UTR|COL4A6_ENST00000545689.1_Nonsense_Mutation_p.E23*|COL4A6_ENST00000334504.7_Nonsense_Mutation_p.E23*			Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	24	7S domain.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						TAAGACTTCTCTCCCTATTAA	0.413									Alport syndrome with Diffuse Leiomyomatosis				5	64					0.014758	0.0152304	1	1	0	A	107554055	C	A	107554055	4	1	81	1	0	0	0	0	0	1	0	0	3718	922	32	4	5177	4	COL4A6	23	107554055	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	117152	107554055	47716505	15369	18985											
COL4A5	1287	broad.mit.edu	37	X	107869006	107869006	+	Missense_Mutation	SNP	G	G	A	rs104886210		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:107869006G>A	ENST00000328300.6	+	35	3332	c.3088G>A	c.(3088-3090)Ggt>Agt	p.G1030S	COL4A5_ENST00000361603.2_Missense_Mutation_p.G1030S	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	1030	Triple-helical region.		G -> S (in APSX).		axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						AGGAACCATCGGTGATATGGG	0.408									Alport syndrome with Diffuse Leiomyomatosis				3	39					0	0	1	0	0	A	107869006	G	A	107869006	3	1	81	1	0	0	0	0	1	0	0	0	3717	1116	39	1	3226	1	COL4A5	23	107869006	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	314951	107869006	47401554	15370	18986											
COL4A5	1287	broad.mit.edu	37	X	107925050	107925050	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:107925050C>T	ENST00000328300.6	+	47	4392	c.4148C>T	c.(4147-4149)cCt>cTt	p.P1383L	COL4A5_ENST00000361603.2_Missense_Mutation_p.P1377L	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	1377	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						GATGCTGGTCCTCCAGGAATC	0.463									Alport syndrome with Diffuse Leiomyomatosis				31	56					0	0	1	0	0	T	107925050	C	T	107925050	3	4	81	1	0	0	0	0	1	0	0	0	3717	681	24	2	4319	2	COL4A5	23	107925050	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	56044	107925050	47345510	15371	18987											
IRS4	8471	broad.mit.edu	37	X	107976513	107976513	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:107976513delA	ENST00000372129.2	-	1	3138	c.3062delT	c.(3061-3063)ttcfs	p.F1021fs		NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	1021						plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						TGCTGAGTTGAAAATTACTTC	0.488													9	102	---	---	---	---						-	107976513	A	-	107976513	7	5	81	1	0	1	0	1	0	0	0	0	7886	246	9	0	715	0	IRS4	23	107976513	Frame_Shift_Del	DEL	A	TCGA-DU-6392-01A-11D-1705-08	51463	107976513	47294047	15372	18988											
IRS4	8471	broad.mit.edu	37	X	107977146	107977146	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:107977146G>T	ENST00000372129.2	-	1	2505	c.2429C>A	c.(2428-2430)tCt>tAt	p.S810Y		NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	810						plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						GTTTGGTAGAGAGAAGTAGGA	0.493													20	282					2.4624e-09	2.97042e-09	1	1	0	T	107977146	G	T	107977146	3	4	81	1	0	0	0	0	1	0	0	0	7886	942	33	4	1348	4	IRS4	23	107977146	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	633	107977146	47293414	15373	18989											
IRS4	8471	broad.mit.edu	37	X	107977626	107977626	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:107977626C>A	ENST00000372129.2	-	1	2025	c.1949G>T	c.(1948-1950)gGg>gTg	p.G650V		NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	650						plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						GAATCTTCCCCCAGACTTCCC	0.498													143	267					1.91924e-68	2.58678e-68	1	1	0	A	107977626	C	A	107977626	3	1	81	1	0	0	0	0	1	0	0	0	7886	623	22	5	1828	5	IRS4	23	107977626	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	480	107977626	47292934	15374	18990											
GUCY2F	2986	broad.mit.edu	37	X	108708437	108708437	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:108708437G>T	ENST00000218006.2	-	3	1257	c.966C>A	c.(964-966)acC>acA	p.T322T		NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN	guanylate cyclase 2F, retinal	322					intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						CTTGATAGAAGGTCTTTTCTT	0.483													9	162					2.74318e-10	3.35469e-10	1	1	0	T	108708437	G	T	108708437	2	4	81	1	0	0	0	0	0	0	0	1	6939	987	35	4		4	GUCY2F	23	108708437	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	730811	108708437	46562123	15375	18991											
GUCY2F	2986	broad.mit.edu	37	X	108718910	108718910	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:108718910C>T	ENST00000218006.2	-	2	547	c.256G>A	c.(256-258)Gac>Aac	p.D86N		NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN	guanylate cyclase 2F, retinal	86					intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						AAAGATGGGTCCCGGTTGATT	0.502											OREG0019905	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	143					0	0	1	0	0	T	108718910	C	T	108718910	3	4	81	1	0	0	0	0	1	0	0	0	6939	855	30	2	3142	2	GUCY2F	23	108718910	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	10473	108718910	46551650	15376	18992											
ACSL4	2182	broad.mit.edu	37	X	108917675	108917675	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:108917675C>A	ENST00000340800.2	-	10	1585	c.1081G>T	c.(1081-1083)Gga>Tga	p.G361*	ACSL4_ENST00000469796.2_Nonsense_Mutation_p.G361*|ACSL4_ENST00000348502.6_Nonsense_Mutation_p.G320*	NM_022977.2	NP_075266.1	O60488	ACSL4_HUMAN	acyl-CoA synthetase long-chain family member 4	361					fatty acid metabolic process|learning or memory|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)	22					Icosapent(DB00159)|Troglitazone(DB00197)	GTACAGTCTCCTTTGCTTCCT	0.308													5	41					0.217242	0.218703	1	1	0	A	108917675	C	A	108917675	4	1	81	1	0	0	0	0	0	1	0	0	179	690	24	4	1086	4	ACSL4	23	108917675	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	198765	108917675	46352885	15377	18993											
RGAG1	57529	broad.mit.edu	37	X	109694910	109694910	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:109694910C>A	ENST00000465301.2	+	3	1311	c.1065C>A	c.(1063-1065)ccC>ccA	p.P355P	RGAG1_ENST00000540313.1_Silent_p.P355P	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	355										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						CGGCCCTACCCTCTGGAGTGA	0.542													44	346					1.8453e-21	2.41717e-21	1	1	0	A	109694910	C	A	109694910	2	1	81	1	0	0	0	0	0	0	0	1	13326	668	24	4		4	RGAG1	23	109694910	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	777235	109694910	45575650	15378	18994											
RGAG1	57529	broad.mit.edu	37	X	109695589	109695589	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:109695589G>A	ENST00000465301.2	+	3	1990	c.1744G>A	c.(1744-1746)Gcc>Acc	p.A582T	RGAG1_ENST00000540313.1_Missense_Mutation_p.A582T	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	582										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						ACTAATGACAGCCCAAACCTC	0.498													29	54					0	0	1	0	0	A	109695589	G	A	109695589	3	1	81	1	0	0	0	0	1	0	0	0	13326	971	34	2	1746	2	RGAG1	23	109695589	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	679	109695589	45574971	15379	18995											
CHRDL1	91851	broad.mit.edu	37	X	109924728	109924728	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:109924728C>T	ENST00000218054.4	-	10	1328	c.1132G>A	c.(1132-1134)Gtt>Att	p.V378I	CHRDL1_ENST00000372042.1_Missense_Mutation_p.V380I|CHRDL1_ENST00000394797.4_Missense_Mutation_p.V378I|CHRDL1_ENST00000372045.1_Missense_Mutation_p.V372I|CHRDL1_ENST00000434224.1_Missense_Mutation_p.V299I|CHRDL1_ENST00000444321.2_Missense_Mutation_p.V379I|CHRDL1_ENST00000482160.1_Missense_Mutation_p.V300I	NM_001143981.1|NM_001143982.1|NM_145234.3	NP_001137453.1|NP_001137454.1|NP_660277.2	Q9BU40	CRDL1_HUMAN	chordin-like 1	372					BMP signaling pathway|cell differentiation|nervous system development|ossification	extracellular region				endometrium(1)|large_intestine(12)|liver(1)|lung(15)|prostate(1)|skin(1)	31						ATAGTCCAAACGTGGACCTCT	0.443													20	120					0	0	1	0	0	T	109924728	C	T	109924728	3	4	81	1	0	0	0	0	1	0	0	0	3395	536	19	1	250	1	CHRDL1	23	109924728	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	229139	109924728	45345832	15380	18996											
PAK3	5063	broad.mit.edu	37	X	110366334	110366334	+	Translation_Start_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:110366334G>A	ENST00000372007.5	+	5	394	c.3G>A	c.(1-3)atG>atA	p.M1I	PAK3_ENST00000446737.1_Start_Codon_SNP_p.M1I|PAK3_ENST00000360648.4_Start_Codon_SNP_p.M1I|PAK3_ENST00000425146.1_Start_Codon_SNP_p.M1I|PAK3_ENST00000262836.4_Start_Codon_SNP_p.M1I|PAK3_ENST00000519681.1_Start_Codon_SNP_p.M1I|PAK3_ENST00000417227.1_Start_Codon_SNP_p.M1I|PAK3_ENST00000518291.1_Start_Codon_SNP_p.M1I|PAK3_ENST00000372010.1_Start_Codon_SNP_p.M1I	NM_002578.3	NP_002569.1	O75914	PAK3_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 3						multicellular organismal development		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding			breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						AACTGAAAATGTCTGACGGTC	0.428										TSP Lung(19;0.15)			13	166					0	0	1	0	0	A	110366334	G	A	110366334	1	1	81	1	0	0	0	0	0	0	0	0	11449	1377	48	2		2	PAK3	23	110366334	Translation_Start_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	441606	110366334	44904226	15381	18997											
PAK3	5063	broad.mit.edu	37	X	110388120	110388120	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:110388120G>A	ENST00000519681.1	+	7	751	c.309G>A	c.(307-309)acG>acA	p.T103T	PAK3_ENST00000446737.1_Intron|PAK3_ENST00000360648.4_Silent_p.T103T|PAK3_ENST00000425146.1_Intron|PAK3_ENST00000262836.4_Intron|PAK3_ENST00000372007.5_Intron|PAK3_ENST00000417227.1_Silent_p.T103T|PAK3_ENST00000518291.1_Silent_p.T103T|PAK3_ENST00000372010.1_Intron			O75914	PAK3_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 3	95	Autoregulatory region (By similarity).|GTPase-binding (By similarity).|Linker.				multicellular organismal development		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding			breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						GACCTGTGACGGTCGCTTCAA	0.368										TSP Lung(19;0.15)			3	6					0	0	1	0	0	A	110388120	G	A	110388120	2	1	81	1	0	0	0	0	0	0	0	1	11449	1103	39	1		1	PAK3	23	110388120	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	21786	110388120	44882440	15382	18998											
PAK3	5063	broad.mit.edu	37	X	110391030	110391030	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:110391030G>T	ENST00000372007.5	+	7	733	c.342G>T	c.(340-342)aaG>aaT	p.K114N	PAK3_ENST00000446737.1_Missense_Mutation_p.K114N|PAK3_ENST00000360648.4_Missense_Mutation_p.K150N|PAK3_ENST00000425146.1_Missense_Mutation_p.K114N|PAK3_ENST00000262836.4_Missense_Mutation_p.K129N|PAK3_ENST00000519681.1_Missense_Mutation_p.K135N|PAK3_ENST00000417227.1_Missense_Mutation_p.K135N|PAK3_ENST00000518291.1_Missense_Mutation_p.K150N|PAK3_ENST00000372010.1_Missense_Mutation_p.K129N	NM_002578.3	NP_002569.1	O75914	PAK3_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 3		Autoregulatory region (By similarity).|GTPase-binding (By similarity).|Linker.				multicellular organismal development		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding			breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						AACAGAAGAAGAACCCACAAG	0.408										TSP Lung(19;0.15)			32	64					5.45727e-16	6.98592e-16	1	1	0	T	110391030	G	T	110391030	3	4	81	1	0	0	0	0	1	0	0	0	11449	933	33	4	468	4	PAK3	23	110391030	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2910	110391030	44879530	15383	18999											
PAK3	5063	broad.mit.edu	37	X	110406218	110406218	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:110406218G>T	ENST00000372007.5	+	9	935	c.544G>T	c.(544-546)Gaa>Taa	p.E182*	PAK3_ENST00000446737.1_Nonsense_Mutation_p.E182*|PAK3_ENST00000360648.4_Nonsense_Mutation_p.E218*|PAK3_ENST00000425146.1_Nonsense_Mutation_p.E182*|PAK3_ENST00000262836.4_Nonsense_Mutation_p.E197*|PAK3_ENST00000519681.1_Nonsense_Mutation_p.E203*|PAK3_ENST00000417227.1_Nonsense_Mutation_p.E203*|PAK3_ENST00000518291.1_Nonsense_Mutation_p.E218*|PAK3_ENST00000372010.1_Nonsense_Mutation_p.E197*	NM_002578.3	NP_002569.1	O75914	PAK3_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 3		Linker.				multicellular organismal development		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding	p.E182*(1)		breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						agaagaagaagaagatgaaAA	0.408										TSP Lung(19;0.15)			10	96					4.68919e-08	5.54405e-08	1	1	0	T	110406218	G	T	110406218	4	4	81	1	0	0	0	0	0	1	0	0	11449	943	33	4	678	4	PAK3	23	110406218	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	15188	110406218	44864342	15384	19000											
CAPN6	827	broad.mit.edu	37	X	110494308	110494308	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:110494308C>T	ENST00000324068.1	-	8	1162	c.995G>A	c.(994-996)cGc>cAc	p.R332H	CAPN6_ENST00000541758.1_Missense_Mutation_p.R77H	NM_014289.3	NP_055104.2	Q9Y6Q1	CAN6_HUMAN	calpain 6	332	Calpain catalytic.				microtubule bundle formation|proteolysis|regulation of cytoskeleton organization	perinuclear region of cytoplasm|spindle microtubule	calcium-dependent cysteine-type endopeptidase activity|microtubule binding	p.R332L(1)		cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	47						GTGAAAGTTGCGGCAAAAGTC	0.438													173	239					0	0	1	0	0	T	110494308	C	T	110494308	3	4	81	1	0	0	0	0	1	0	0	0	2648	768	27	1	954	1	CAPN6	23	110494308	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	88090	110494308	44776252	15385	19001											
DCX	1641	broad.mit.edu	37	X	110653599	110653599	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:110653599C>T	ENST00000338081.3	-	2	442	c.271G>A	c.(271-273)Gaa>Aaa	p.E91K	DCX_ENST00000356220.3_Missense_Mutation_p.E10K|DCX_ENST00000488120.1_Missense_Mutation_p.E10K|DCX_ENST00000496551.1_5'UTR|DCX_ENST00000371993.2_Missense_Mutation_p.E10K|DCX_ENST00000356915.2_Missense_Mutation_p.E10K	NM_000555.3	NP_000546.2	O43602	DCX_HUMAN	doublecortin	91					axon guidance|central nervous system development|intracellular signal transduction	cytosol|microtubule associated complex	microtubule binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|skin(6)|upper_aerodigestive_tract(1)	41						TTATCTCTTTCGTCAAAGTGT	0.507													10	111					0	0	1	0	0	T	110653599	C	T	110653599	3	4	81	1	0	0	0	0	1	0	0	0	4341	893	31	1	1093	1	DCX	23	110653599	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	159291	110653599	44616961	15386	19002											
ALG13	79868	broad.mit.edu	37	X	110925385	110925385	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:110925385G>A	ENST00000394780.3	+	2	119	c.107G>A	c.(106-108)cGa>cAa	p.R36Q	ALG13_ENST00000251943.4_5'UTR|ALG13_ENST00000371979.3_Missense_Mutation_p.R36Q	NM_001099922.2|NM_001257231.1	NP_001093392.1|NP_001244160.1	Q9NP73	ALG13_HUMAN	ALG13, UDP-N-acetylglucosaminyltransferase subunit	36					dolichol-linked oligosaccharide biosynthetic process|lipid glycosylation|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane	carbohydrate binding|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity			endometrium(2)|lung(10)|skin(1)	13						GGTTACAACCGACTTATCCTG	0.438													62	114					0	0	1	0	0	A	110925385	G	A	110925385	3	1	81	1	0	0	0	0	1	0	0	0	512	1058	37	1	113	1	ALG13	23	110925385	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	271786	110925385	44345175	15387	19003											
ALG13	79868	broad.mit.edu	37	X	110928326	110928326	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:110928326C>A	ENST00000394780.3	+	3	390	c.378C>A	c.(376-378)acC>acA	p.T126T	ALG13_ENST00000251943.4_Silent_p.T22T|ALG13_ENST00000371979.3_Silent_p.T126T	NM_001099922.2|NM_001257231.1	NP_001093392.1|NP_001244160.1	Q9NP73	ALG13_HUMAN	ALG13, UDP-N-acetylglucosaminyltransferase subunit	126					dolichol-linked oligosaccharide biosynthetic process|lipid glycosylation|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane	carbohydrate binding|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity			endometrium(2)|lung(10)|skin(1)	13						TCTATTGTACCTGCAGGTATG	0.433													121	168					9.50458e-46	1.27809e-45	1	1	0	A	110928326	C	A	110928326	2	1	81	1	0	0	0	0	0	0	0	1	512	680	24	4		4	ALG13	23	110928326	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2941	110928326	44342234	15388	19004											
ALG13	79868	broad.mit.edu	37	X	110970862	110970862	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:110970862G>A	ENST00000394780.3	+	18	2123	c.2111G>A	c.(2110-2112)cGc>cAc	p.R704H	ALG13_ENST00000470971.1_3'UTR|ALG13_ENST00000251943.4_Missense_Mutation_p.R600H	NM_001099922.2|NM_001257231.1	NP_001093392.1|NP_001244160.1	Q9NP73	ALG13_HUMAN	ALG13, UDP-N-acetylglucosaminyltransferase subunit	704					dolichol-linked oligosaccharide biosynthetic process|lipid glycosylation|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane	carbohydrate binding|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity			endometrium(2)|lung(10)|skin(1)	13						CGTAGTCACCGCCAGATGAGT	0.348													13	17					0	0	1	0	0	A	110970862	G	A	110970862	3	1	81	1	0	0	0	0	1	0	0	0	512	1087	38	1	2323	1	ALG13	23	110970862	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	42536	110970862	44299698	15389	19005											
TRPC5	7224	broad.mit.edu	37	X	111090401	111090401	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:111090401G>A	ENST00000262839.2	-	6	2559	c.1641C>T	c.(1639-1641)atC>atT	p.I547I		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	547					axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						TAGGCTCATCGATAGCTCTGG	0.393													13	168					0	0	1	0	0	A	111090401	G	A	111090401	2	1	81	1	0	0	0	0	0	0	0	1	16643	1048	37	1		1	TRPC5	23	111090401	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	119539	111090401	44180159	15390	19006											
TRPC5	7224	broad.mit.edu	37	X	111195533	111195533	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:111195533G>A	ENST00000262839.2	-	2	1034	c.116C>T	c.(115-117)gCt>gTt	p.A39V		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	39					axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						CTTCTCCACAGCATTGAGGAA	0.527													30	49					0	0	1	0	0	A	111195533	G	A	111195533	3	1	81	1	0	0	0	0	1	0	0	0	16643	971	34	2	2845	2	TRPC5	23	111195533	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	105132	111195533	44075027	15391	19007											
TRPC5	7224	broad.mit.edu	37	X	111195637	111195637	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:111195637C>T	ENST00000262839.2	-	2	930	c.12G>A	c.(10-12)ctG>ctA	p.L4L		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	4					axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						TTTTGTAGTACAGTTGGGCCA	0.483													7	51					0	0	1	0	0	T	111195637	C	T	111195637	2	4	81	1	0	0	0	0	0	0	0	1	16643	465	17	2		2	TRPC5	23	111195637	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	104	111195637	44074923	15392	19008											
LHFPL1	340596	broad.mit.edu	37	X	111914520	111914520	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:111914520G>T	ENST00000371968.3	-	2	338	c.99C>A	c.(97-99)ctC>ctA	p.L33L	LHFPL1_ENST00000478229.1_Intron|LHFPL1_ENST00000536453.1_Silent_p.L33L	NM_178175.3	NP_835469.1	Q86WI0	LHPL1_HUMAN	lipoma HMGIC fusion partner-like 1	33						integral to membrane				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)	13						GGGATCCAAAGAGCCAGTAAG	0.547													14	202					1.36491e-13	1.72302e-13	1	1	0	T	111914520	G	T	111914520	2	4	81	1	0	0	0	0	0	0	0	1	8804	929	33	4		4	LHFPL1	23	111914520	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	718883	111914520	43356040	15393	19009											
AMOT	154796	broad.mit.edu	37	X	112054488	112054488	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:112054488C>A	ENST00000371959.3	-	3	1525	c.1526G>T	c.(1525-1527)aGg>aTg	p.R509M	AMOT_ENST00000371958.1_Missense_Mutation_p.R277M|AMOT_ENST00000304758.1_Missense_Mutation_p.R100M|AMOT_ENST00000371962.1_Missense_Mutation_p.R277M|AMOT_ENST00000524145.1_Missense_Mutation_p.R509M	NM_001113490.1	NP_001106962.1	Q4VCS5	AMOT_HUMAN	angiomotin	509					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	p.R100M(1)|p.R509M(1)		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						TCTCAGATCCCTGTTGAAATC	0.502													21	237					3.62473e-10	4.42231e-10	1	1	0	A	112054488	C	A	112054488	3	1	81	1	0	0	0	0	1	0	0	0	578	681	24	4	1764	4	AMOT	23	112054488	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	139968	112054488	43216072	15394	19010											
HTR2C	3358	broad.mit.edu	37	X	113961365	113961365	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:113961365C>T	ENST00000276198.1	+	3	748	c.20C>T	c.(19-21)gCg>gTg	p.A7V	HTR2C_ENST00000371950.3_Missense_Mutation_p.A7V|HTR2C_ENST00000371951.1_Missense_Mutation_p.A7V	NM_000868.2	NP_000859.1	P28335	5HT2C_HUMAN	5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled	7					cGMP biosynthetic process|ERK1 and ERK2 cascade|feeding behavior|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	cytoplasm|integral to membrane|nucleus|plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|protein binding|serotonin binding|serotonin receptor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50					Chlorprothixene(DB01239)|Clozapine(DB00363)|Dexfenfluramine(DB01191)|Fenfluramine(DB00574)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Tramadol(DB00193)|Ziprasidone(DB00246)	CTGAGGAATGCGGTGCATTCA	0.343													11	10					0	0	1	0	0	T	113961365	C	T	113961365	3	4	81	1	0	0	0	0	1	0	0	0	7487	768	27	1	22	1	HTR2C	23	113961365	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1906877	113961365	41309195	15395	19011											
SLC6A14	11254	broad.mit.edu	37	X	115569065	115569065	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:115569065C>T	ENST00000371900.4	+	2	244	c.156C>T	c.(154-156)taC>taT	p.Y52Y		NM_007231.3	NP_009162.1	Q9UN76	S6A14_HUMAN	solute carrier family 6 (amino acid transporter), member 14	52					cellular amino acid metabolic process|response to toxin	integral to membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	23					L-Proline(DB00172)	TGATTGGATACGCAGTGGGAT	0.453													51	71					0	0	1	0	0	T	115569065	C	T	115569065	2	4	81	1	0	0	0	0	0	0	0	1	14732	547	19	1		1	SLC6A14	23	115569065	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1607700	115569065	39701495	15396	19012											
SLC6A14	11254	broad.mit.edu	37	X	115573909	115573909	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:115573909T>C	ENST00000371900.4	+	4	489	c.401T>C	c.(400-402)gTc>gCc	p.V134A		NM_007231.3	NP_009162.1	Q9UN76	S6A14_HUMAN	solute carrier family 6 (amino acid transporter), member 14	134					cellular amino acid metabolic process|response to toxin	integral to membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	23					L-Proline(DB00172)	TATTACAATGTCATAATTGCC	0.318													9	156					0	0	1	0	0	C	115573909	T	C	115573909	3	2	81	1	0	0	0	0	1	0	0	0	14732	1667	58	3	415	3	SLC6A14	23	115573909	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	4844	115573909	39696651	15397	19013											
SLC6A14	11254	broad.mit.edu	37	X	115573968	115573968	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:115573968delA	ENST00000371900.4	+	4	548	c.460delA	c.(460-462)aaafs	p.K154fs		NM_007231.3	NP_009162.1	Q9UN76	S6A14_HUMAN	solute carrier family 6 (amino acid transporter), member 14	154					cellular amino acid metabolic process|response to toxin	integral to membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	23					L-Proline(DB00172)	ACTACCATGGAAAAATTGTTC	0.308													63	107	---	---	---	---						-	115573968	A	-	115573968	7	5	81	1	0	1	0	1	0	0	0	0	14732	247	9	0	474	0	SLC6A14	23	115573968	Frame_Shift_Del	DEL	A	TCGA-DU-6392-01A-11D-1705-08	59	115573968	39696592	15398	19014											
KLHL13	90293	broad.mit.edu	37	X	117033091	117033091	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:117033091G>A	ENST00000371876.1	-	6	4016	c.1595C>T	c.(1594-1596)gCt>gTt	p.A532V	KLHL13_ENST00000540167.1_Missense_Mutation_p.A567V|KLHL13_ENST00000545703.1_Missense_Mutation_p.A541V|KLHL13_ENST00000371878.1_Missense_Mutation_p.A532V|KLHL13_ENST00000371882.1_Missense_Mutation_p.A532V|KLHL13_ENST00000262820.3_Missense_Mutation_p.A583V|KLHL13_ENST00000469946.1_Missense_Mutation_p.A532V|KLHL13_ENST00000539496.1_Missense_Mutation_p.A586V|KLHL13_ENST00000541812.1_Missense_Mutation_p.A567V			Q9P2N7	KLH13_HUMAN	kelch-like family member 13	583					cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						TTCGAAGACAGCGACCCCAAC	0.418													75	99					0	0	1	0	0	A	117033091	G	A	117033091	3	1	81	1	0	0	0	0	1	0	0	0	8412	971	34	2	223	2	KLHL13	23	117033091	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1459123	117033091	38237469	15399	19015											
WDR44	54521	broad.mit.edu	37	X	117528036	117528036	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:117528036C>T	ENST00000254029.3	+	5	1240	c.845C>T	c.(844-846)aCg>aTg	p.T282M	WDR44_ENST00000371825.3_Missense_Mutation_p.T282M|WDR44_ENST00000371822.5_Missense_Mutation_p.T257M	NM_019045.4	NP_061918.3	Q5JSH3	WDR44_HUMAN	WD repeat domain 44	282						cytosol|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm				breast(4)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	33						GAGAATATTACGTCTGATTCT	0.383													6	78					0	0	1	0	0	T	117528036	C	T	117528036	3	4	81	1	0	0	0	0	1	0	0	0	17356	536	19	1	863	1	WDR44	23	117528036	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	494945	117528036	37742524	15400	19016											
DOCK11	139818	broad.mit.edu	37	X	117718715	117718715	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:117718715C>T	ENST00000276204.6	+	15	1687	c.1613C>T	c.(1612-1614)aCt>aTt	p.T538I	DOCK11_ENST00000276202.7_Missense_Mutation_p.T538I			Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	538					blood coagulation	cytosol	GTP binding			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						TTCAAAGATACTCAAGGCTCT	0.338													37	52					0	0	1	0	0	T	117718715	C	T	117718715	3	4	81	1	0	0	0	0	1	0	0	0	4713	565	20	2	1671	2	DOCK11	23	117718715	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	190679	117718715	37551845	15401	19017											
DOCK11	139818	broad.mit.edu	37	X	117752685	117752685	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:117752685G>A	ENST00000276204.6	+	31	3539	c.3465G>A	c.(3463-3465)caG>caA	p.Q1155Q	DOCK11_ENST00000276202.7_Silent_p.Q1155Q			Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	1155					blood coagulation	cytosol	GTP binding			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						CAAGATACCAGCACAAGGTAA	0.338													17	40					0	0	1	0	0	A	117752685	G	A	117752685	2	1	81	1	0	0	0	0	0	0	0	1	4713	962	34	2		2	DOCK11	23	117752685	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	33970	117752685	37517875	15402	19018											
ZCCHC12	170261	broad.mit.edu	37	X	117959637	117959637	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:117959637A>G	ENST00000310164.2	+	4	937	c.430A>G	c.(430-432)Aaa>Gaa	p.K144E		NM_173798.2	NP_776159.1	Q6PEW1	ZCH12_HUMAN	zinc finger, CCHC domain containing 12	144					regulation of transcription, DNA-dependent|transcription, DNA-dependent		nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	22						tcaaggggagaaagcctccct	0.483													5	168					0	0	1	0	0	G	117959637	A	G	117959637	3	3	81	1	0	0	0	0	1	0	0	0	17640	247	9	3	432	3	ZCCHC12	23	117959637	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	206952	117959637	37310923	15403	19019											
LONRF3	79836	broad.mit.edu	37	X	118147045	118147045	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:118147045T>G	ENST00000304778.7	+	8	1895	c.1732T>G	c.(1732-1734)Ttc>Gtc	p.F578V	LONRF3_ENST00000472173.1_3'UTR|LONRF3_ENST00000371628.3_Missense_Mutation_p.F619V|LONRF3_ENST00000422289.2_Missense_Mutation_p.F363V	NM_024778.4	NP_079054.3	Q496Y0	LONF3_HUMAN	LON peptidase N-terminal domain and ring finger 3	619	Lon.				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						AAATGTTCAATTCTTTGCTGA	0.493													6	194					0	0	1	0	0	G	118147045	T	G	118147045	3	3	81	1	0	0	0	0	1	0	0	0	8941	1493	52	4	1889	4	LONRF3	23	118147045	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	187408	118147045	37123515	15404	19020											
KIAA1210	57481	broad.mit.edu	37	X	118227693	118227693	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:118227693C>T	ENST00000402510.2	-	10	1419	c.1420G>A	c.(1420-1422)Gaa>Aaa	p.E474K		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	474										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						CTCTTTTCTTCTTCAGAAACC	0.443													13	22					0	0	1	0	0	T	118227693	C	T	118227693	3	4	81	1	0	0	0	0	1	0	0	0	8256	922	32	2	3729	2	KIAA1210	23	118227693	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	80648	118227693	37042867	15405	19021											
KIAA1210	57481	broad.mit.edu	37	X	118242365	118242365	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:118242365A>G	ENST00000402510.2	-	6	846	c.847T>C	c.(847-849)Tca>Cca	p.S283P		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	283										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						ACAGCTCCTGACATGGCTCCA	0.483													56	70					0	0	1	0	0	G	118242365	A	G	118242365	3	3	81	1	0	0	0	0	1	0	0	0	8256	275	10	3	4318	3	KIAA1210	23	118242365	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	14672	118242365	37028195	15406	19022											
CXorf56	63932	broad.mit.edu	37	X	118694317	118694317	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:118694317G>T	ENST00000320339.4	-	2	280	c.9C>A	c.(7-9)ccC>ccA	p.P3P	CXorf56_ENST00000371594.4_Silent_p.P52P|CXorf56_ENST00000536133.1_Silent_p.P52P	NM_001170569.1	NP_001164040.1	Q9H5V9	CX056_HUMAN	chromosome X open reading frame 56	52							protein binding			cervix(1)|endometrium(2)|lung(7)	10						ACCGGTCCCGGGGCCTCATGG	0.458													10	161					4.68919e-08	5.54405e-08	1	1	0	T	118694317	G	T	118694317	2	4	81	1	0	0	0	0	0	0	0	1	4135	1219	43	5		5	CXorf56	23	118694317	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	451952	118694317	36576243	15407	19023											
NKRF	55922	broad.mit.edu	37	X	118723315	118723315	+	Nonstop_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:118723315T>A	ENST00000371527.1	-	2	2725	c.2073A>T	c.(2071-2073)tgA>tgT	p.*691C	NKRF_ENST00000487600.1_Intron|NKRF_ENST00000304449.5_Nonstop_Mutation_p.*691C|NKRF_ENST00000542113.1_Nonstop_Mutation_p.*706C	NM_001173488.1	NP_001166959.1	O15226	NKRF_HUMAN	NFKB repressing factor	0					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|double-stranded RNA binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	30						TAGTAAGATCTCAATTTGCTT	0.383													12	51					0	0	1	0	0	A	118723315	T	A	118723315	4	1	81	1	0	0	0	0	0	0	0	0	10494	1564	54	5	3	5	NKRF	23	118723315	Nonstop_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	28998	118723315	36547245	15408	19024											
NKRF	55922	broad.mit.edu	37	X	118724034	118724034	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:118724034C>T	ENST00000371527.1	-	2	2006	c.1354G>A	c.(1354-1356)Gtg>Atg	p.V452M	NKRF_ENST00000487600.1_Intron|NKRF_ENST00000304449.5_Missense_Mutation_p.V452M|NKRF_ENST00000542113.1_Missense_Mutation_p.V467M	NM_001173488.1	NP_001166959.1	O15226	NKRF_HUMAN	NFKB repressing factor	452					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|double-stranded RNA binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	30						AGCGTGCACACGGGATTTGAA	0.423													57	65					0	0	1	0	0	T	118724034	C	T	118724034	3	4	81	1	0	0	0	0	1	0	0	0	10494	536	19	1	722	1	NKRF	23	118724034	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	719	118724034	36546526	15409	19025											
AKAP14	158798	broad.mit.edu	37	X	119048673	119048674	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:119048673_119048674insA	ENST00000371431.3	+	5	547_548	c.273_274insA	c.(274-276)aaafs	p.K92fs	AKAP14_ENST00000371425.4_Intron|AKAP14_ENST00000334356.2_Intron|AKAP14_ENST00000371423.2_Intron	NM_178813.5	NP_848928.1	Q86UN6	AKA28_HUMAN	A kinase (PRKA) anchor protein 14	92						cytoplasm				endometrium(4)|large_intestine(1)|lung(8)	13						AGTGTGTTTCTAAAAAATGCTG	0.401													41	59	---	---	---	---						A	119048674	-	A	119048673	7	5	81	1	0	1	1	0	0	0	0	0	447	1509	53	0	292	0	AKAP14	23	119048673	Frame_Shift_Ins	INS	-	TCGA-DU-6392-01A-11D-1705-08	324639	119048673	36221887	15410	19026											
ZBTB33	10009	broad.mit.edu	37	X	119387918	119387918	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:119387918G>T	ENST00000326624.2	+	2	876	c.648G>T	c.(646-648)caG>caT	p.Q216H	ZBTB33_ENST00000557385.1_Missense_Mutation_p.Q216H	NM_006777.3	NP_006768.1	Q86T24	KAISO_HUMAN	zinc finger and BTB domain containing 33	216					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|nucleolus|plasma membrane	DNA binding|protein binding|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	26						CAGTGGCACAGGTCCAATCTA	0.438													27	53					2.49675e-24	3.29553e-24	1	1	0	T	119387918	G	T	119387918	3	4	81	1	0	0	0	0	1	0	0	0	17595	991	35	4	650	4	ZBTB33	23	119387918	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	339245	119387918	35882642	15411	19027											
ATP1B4	23439	broad.mit.edu	37	X	119500594	119500594	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:119500594T>G	ENST00000218008.3	+	2	335	c.278T>G	c.(277-279)cTg>cGg	p.L93R	ATP1B4_ENST00000361319.3_Missense_Mutation_p.L93R|ATP1B4_ENST00000539306.1_Missense_Mutation_p.L93R	NM_001142447.2	NP_001135919.1	Q9UN42	AT1B4_HUMAN	ATPase, Na+/K+ transporting, beta 4 polypeptide	93					ATP biosynthetic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to plasma membrane|nuclear inner membrane	sodium:potassium-exchanging ATPase activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	33						AGTGAATACCTGTGGGATCCA	0.498													23	23					0	0	1	0	0	G	119500594	T	G	119500594	3	3	81	1	0	0	0	0	1	0	0	0	1134	1580	55	5	284	5	ATP1B4	23	119500594	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	112676	119500594	35769966	15412	19028											
ATP1B4	23439	broad.mit.edu	37	X	119509350	119509350	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:119509350A>G	ENST00000218008.3	+	5	743	c.686A>G	c.(685-687)aAc>aGc	p.N229S	ATP1B4_ENST00000361319.3_Missense_Mutation_p.N225S|ATP1B4_ENST00000539306.1_Missense_Mutation_p.N186S	NM_001142447.2	NP_001135919.1	Q9UN42	AT1B4_HUMAN	ATPase, Na+/K+ transporting, beta 4 polypeptide	229					ATP biosynthetic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to plasma membrane|nuclear inner membrane	sodium:potassium-exchanging ATPase activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	33						TTCCTAAAGAACTGCTCTGGT	0.478													9	145					0	0	1	0	0	G	119509350	A	G	119509350	3	3	81	1	0	0	0	0	1	0	0	0	1134	43	2	3	704	3	ATP1B4	23	119509350	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	8756	119509350	35761210	15413	19029											
CUL4B	8450	broad.mit.edu	37	X	119672534	119672534	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:119672534C>T	ENST00000371322.5	-	13	1894	c.1833G>A	c.(1831-1833)atG>atA	p.M611I	CUL4B_ENST00000404115.3_Missense_Mutation_p.M629I|CUL4B_ENST00000336592.6_Missense_Mutation_p.M616I	NM_001079872.1	NP_001073341.1	Q13620	CUL4B_HUMAN	cullin 4B	629					cell cycle|DNA repair|ubiquitin-dependent protein catabolic process	Cul4B-RING ubiquitin ligase complex|nucleus	protein binding|ubiquitin protein ligase binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						GTTTGGACAGCATTGATTTTT	0.378													12	130					0	0	1	0	0	T	119672534	C	T	119672534	3	4	81	1	0	0	0	0	1	0	0	0	4081	710	25	2	886	2	CUL4B	23	119672534	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	163184	119672534	35598026	15414	19030											
CUL4B	8450	broad.mit.edu	37	X	119674287	119674287	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:119674287G>T	ENST00000371322.5	-	11	1635	c.1574C>A	c.(1573-1575)gCc>gAc	p.A525D	CUL4B_ENST00000404115.3_Missense_Mutation_p.A543D|CUL4B_ENST00000336592.6_Missense_Mutation_p.A530D	NM_001079872.1	NP_001073341.1	Q13620	CUL4B_HUMAN	cullin 4B	543					cell cycle|DNA repair|ubiquitin-dependent protein catabolic process	Cul4B-RING ubiquitin ligase complex|nucleus	protein binding|ubiquitin protein ligase binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						TTCTTTCATGGCATTGATAAA	0.313													26	45					1.5548e-18	2.01812e-18	1	1	0	T	119674287	G	T	119674287	3	4	81	1	0	0	0	0	1	0	0	0	4081	1203	42	5	1153	5	CUL4B	23	119674287	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1753	119674287	35596273	15415	19031											
CUL4B	8450	broad.mit.edu	37	X	119678008	119678008	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:119678008G>A	ENST00000371322.5	-	7	1195	c.1134C>T	c.(1132-1134)ctC>ctT	p.L378L	CUL4B_ENST00000404115.3_Silent_p.L396L|CUL4B_ENST00000336592.6_Silent_p.L383L	NM_001079872.1	NP_001073341.1	Q13620	CUL4B_HUMAN	cullin 4B	396					cell cycle|DNA repair|ubiquitin-dependent protein catabolic process	Cul4B-RING ubiquitin ligase complex|nucleus	protein binding|ubiquitin protein ligase binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						CAGCTGCATAGAGCCGGTTAG	0.333													20	40					0	0	1	0	0	A	119678008	G	A	119678008	2	1	81	1	0	0	0	0	0	0	0	1	4081	929	33	2		2	CUL4B	23	119678008	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	3721	119678008	35592552	15416	19032											
CUL4B	8450	broad.mit.edu	37	X	119693958	119693958	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:119693958A>G	ENST00000371322.5	-	1	597	c.536T>C	c.(535-537)tTa>tCa	p.L179S	CUL4B_ENST00000404115.3_Missense_Mutation_p.L197S|CUL4B_ENST00000336592.6_Missense_Mutation_p.L184S	NM_001079872.1	NP_001073341.1	Q13620	CUL4B_HUMAN	cullin 4B	197	Ser-rich.				cell cycle|DNA repair|ubiquitin-dependent protein catabolic process	Cul4B-RING ubiquitin ligase complex|nucleus	protein binding|ubiquitin protein ligase binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						CTTGATCACTAACTTCTTAGC	0.423													41	84					0	0	1	0	0	G	119693958	A	G	119693958	3	3	81	1	0	0	0	0	1	0	0	0	4081	372	13	3	2231	3	CUL4B	23	119693958	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	15950	119693958	35576602	15417	19033											
GRIA3	2892	broad.mit.edu	37	X	122536867	122536867	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:122536867G>A	ENST00000264357.5	+	8	1395	c.1103G>A	c.(1102-1104)gGa>gAa	p.G368E	GRIA3_ENST00000542149.1_Missense_Mutation_p.G368E|GRIA3_ENST00000371251.1_Missense_Mutation_p.G368E|GRIA3_ENST00000371256.5_Missense_Mutation_p.G368E|GRIA3_ENST00000541091.1_Missense_Mutation_p.G352E	NM_000828.4	NP_000819	P42263	GRIA3_HUMAN	glutamate receptor, ionotropic, AMPA 3	368					glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					L-Glutamic Acid(DB00142)	GGAATGACTGGAAATATTCAA	0.373													85	178					0	0	1	0	0	A	122536867	G	A	122536867	3	1	81	1	0	0	0	0	1	0	0	0	6810	1174	41	2	1133	2	GRIA3	23	122536867	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2842909	122536867	32733693	15418	19034											
GRIA3	2892	broad.mit.edu	37	X	122538588	122538588	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:122538588C>T	ENST00000264357.5	+	10	1615	c.1323C>T	c.(1321-1323)aaC>aaT	p.N441N	GRIA3_ENST00000542149.1_Silent_p.N441N|GRIA3_ENST00000371251.1_Silent_p.N441N|GRIA3_ENST00000371256.5_Silent_p.N441N|GRIA3_ENST00000541091.1_Silent_p.N425N	NM_000828.4	NP_000819	P42263	GRIA3_HUMAN	glutamate receptor, ionotropic, AMPA 3	441					glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					L-Glutamic Acid(DB00142)	ACAAGAAGAACCATGAGCAAC	0.353													28	56					0	0	1	0	0	T	122538588	C	T	122538588	2	4	81	1	0	0	0	0	0	0	0	1	6810	506	18	2		2	GRIA3	23	122538588	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1721	122538588	32731972	15419	19035											
THOC2	57187	broad.mit.edu	37	X	122755386	122755387	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:122755386_122755387insT	ENST00000245838.8	-	31	3868_3869	c.3837_3838insA	c.(3835-3840)aaagagfs	p.E1280fs	THOC2_ENST00000491737.1_Frame_Shift_Ins_p.E1165fs|THOC2_ENST00000355725.4_Frame_Shift_Ins_p.E1280fs	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2	1280	Lys-rich.				intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding			breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						tcttttttctctttttctttct	0.322													17	52	---	---	---	---						T	122755387	-	T	122755386	7	5	81	1	0	1	1	0	0	0	0	0	15925	922	32	0	975	0	THOC2	23	122755386	Frame_Shift_Ins	INS	-	TCGA-DU-6392-01A-11D-1705-08	216798	122755386	32515174	15420	19036											
THOC2	57187	broad.mit.edu	37	X	122757749	122757749	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:122757749A>C	ENST00000245838.8	-	28	3423	c.3392T>G	c.(3391-3393)cTt>cGt	p.L1131R	THOC2_ENST00000491737.1_Missense_Mutation_p.L1016R|THOC2_ENST00000355725.4_Missense_Mutation_p.L1131R	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2	1131					intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding			breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						GTACCAAGGAAGTATTTTTGT	0.378													13	104					0	0	1	0	0	C	122757749	A	C	122757749	3	2	81	1	0	0	0	0	1	0	0	0	15925	72	3	5	1433	5	THOC2	23	122757749	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	2363	122757749	32512811	15421	19037											
THOC2	57187	broad.mit.edu	37	X	122765688	122765688	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:122765688C>T	ENST00000245838.8	-	22	2363	c.2332G>A	c.(2332-2334)Gtg>Atg	p.V778M	THOC2_ENST00000491737.1_Missense_Mutation_p.V663M|THOC2_ENST00000355725.4_Missense_Mutation_p.V778M	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2	778					intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding			breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						CCAAACTGCACCAGGGTATCA	0.313													60	113					0	0	1	0	0	T	122765688	C	T	122765688	3	4	81	1	0	0	0	0	1	0	0	0	15925	507	18	2	2517	2	THOC2	23	122765688	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	7939	122765688	32504872	15422	19038											
THOC2	57187	broad.mit.edu	37	X	122837343	122837343	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:122837343C>T	ENST00000245838.8	-	4	266	c.235G>A	c.(235-237)Gat>Aat	p.D79N	THOC2_ENST00000355725.4_Missense_Mutation_p.D79N	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2	79					intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding			breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						GAGGGCATATCCTCACGAAAT	0.313													19	42					0	0	1	0	0	T	122837343	C	T	122837343	3	4	81	1	0	0	0	0	1	0	0	0	15925	855	30	2	4686	2	THOC2	23	122837343	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	71655	122837343	32433217	15423	19039											
XIAP	331	broad.mit.edu	37	X	123019851	123019851	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:123019851T>C	ENST00000371199.3	+	2	638	c.339T>C	c.(337-339)ggT>ggC	p.G113G	XIAP_ENST00000468691.1_Intron|XIAP_ENST00000434753.3_Silent_p.G113G|XIAP_ENST00000355640.3_Silent_p.G113G	NM_001167.3	NP_001158.2	P98170	XIAP_HUMAN	X-linked inhibitor of apoptosis	113					anti-apoptosis|apoptosis|induction of apoptosis by intracellular signals|response to DNA damage stimulus	cytosol	caspase inhibitor activity|ligase activity|protein binding|zinc ion binding			breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)	25						TCCAGAATGGTCAGTACAAAG	0.418									X-linked Lymphoproliferative syndrome				52	75					0	0	1	0	0	C	123019851	T	C	123019851	2	2	81	1	0	0	0	0	0	0	0	1	17488	1654	58	3		3	XIAP	23	123019851	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	182508	123019851	32250709	15424	19040											
XIAP	331	broad.mit.edu	37	X	123025089	123025089	+	Splice_Site	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:123025089T>C	ENST00000371199.3	+	4	1278	c.979T>C	c.(979-981)Tgc>Cgc	p.C327R	XIAP_ENST00000468691.1_Intron|XIAP_ENST00000434753.3_Splice_Site_p.C327R|XIAP_ENST00000355640.3_Splice_Site_p.C327R	NM_001167.3	NP_001158.2	P98170	XIAP_HUMAN	X-linked inhibitor of apoptosis	327					anti-apoptosis|apoptosis|induction of apoptosis by intracellular signals|response to DNA damage stimulus	cytosol	caspase inhibitor activity|ligase activity|protein binding|zinc ion binding			breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)	25						ATTGTTTAGGTGCAAATATCT	0.259									X-linked Lymphoproliferative syndrome				3	33					0	0	1	0	0	C	123025089	T	C	123025089	5	2	81	1	0	0	0	0	0	0	1	0	17488	1710	59	3	989	3	XIAP	23	123025089	Splice_Site	SNP	T	TCGA-DU-6392-01A-11D-1705-08	5238	123025089	32245471	15425	19041											
STAG2	10735	broad.mit.edu	37	X	123185164	123185164	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:123185164G>T	ENST00000371160.1	+	13	1406		c.e13-1		STAG2_ENST00000354548.5_Splice_Site|STAG2_ENST00000371157.3_Splice_Site|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000218089.9_Splice_Site|STAG2_ENST00000371144.3_Splice_Site|STAG2_ENST00000371145.3_Splice_Site	NM_001282418.1	NP_001269347.1	Q8N3U4	STAG2_HUMAN	stromal antigen 2						cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						tttGTCCTTAGGATAGAATTG	0.279													7	77					0.00198382	0.00209725	1	1	0	T	123185164	G	T	123185164	5	4	81	1	0	0	0	0	0	0	1	0	15299	1014	35	4	1158	4	STAG2	23	123185164	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	160075	123185164	32085396	15426	19042											
STAG2	10735	broad.mit.edu	37	X	123185184	123185184	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:123185184C>T	ENST00000371160.1	+	13	1426	c.1136C>T	c.(1135-1137)aCc>aTc	p.T379I	STAG2_ENST00000354548.5_Missense_Mutation_p.T310I|STAG2_ENST00000371157.3_Missense_Mutation_p.T379I|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000218089.9_Missense_Mutation_p.T379I|STAG2_ENST00000371144.3_Missense_Mutation_p.T379I|STAG2_ENST00000371145.3_Missense_Mutation_p.T379I	NM_001282418.1	NP_001269347.1	Q8N3U4	STAG2_HUMAN	stromal antigen 2	379					cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						GTGTCTATGACCCTTGACAAA	0.284													30	58					0	0	1	0	0	T	123185184	C	T	123185184	3	4	81	1	0	0	0	0	1	0	0	0	15299	507	18	2	1178	2	STAG2	23	123185184	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	20	123185184	32085376	15427	19043											
DCAF12L1	139170	broad.mit.edu	37	X	125685396	125685396	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:125685396C>A	ENST00000371126.1	-	1	1438	c.1196G>T	c.(1195-1197)aGg>aTg	p.R399M		NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	399										breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						GAGCTTCCTCCTTGCAGGTCC	0.577													32	63					1.60099e-16	2.05554e-16	1	1	0	A	125685396	C	A	125685396	3	1	81	1	0	0	0	0	1	0	0	0	4288	681	24	4	199	4	DCAF12L1	23	125685396	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2500212	125685396	29585164	15428	19044											
DCAF12L1	139170	broad.mit.edu	37	X	125685778	125685778	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:125685778C>T	ENST00000371126.1	-	1	1056	c.814G>A	c.(814-816)Ggc>Agc	p.G272S		NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	272										breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						TGGTTCTTGCCGCCGCAGGCC	0.637													19	31					0	0	1	0	0	T	125685778	C	T	125685778	3	4	81	1	0	0	0	0	1	0	0	0	4288	652	23	1	581	1	DCAF12L1	23	125685778	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	382	125685778	29584782	15429	19045											
ACTRT1	139741	broad.mit.edu	37	X	127185265	127185265	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:127185265G>A	ENST00000371124.3	-	1	1117	c.921C>T	c.(919-921)ctC>ctT	p.L307L		NM_138289.3	NP_612146.1	Q8TDG2	ACTT1_HUMAN	actin-related protein T1	307						cytoplasm|cytoskeleton				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	34						CCAGCCCAGGGAGGAGAGTGG	0.493													7	91					0	0	1	0	0	A	127185265	G	A	127185265	2	1	81	1	0	0	0	0	0	0	0	1	217	1161	41	2		2	ACTRT1	23	127185265	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1499487	127185265	28085295	15430	19046											
SMARCA1	6594	broad.mit.edu	37	X	128630769	128630769	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:128630769C>A	ENST00000371122.4	-	12	1713	c.1584G>T	c.(1582-1584)gaG>gaT	p.E528D	SMARCA1_ENST00000371121.3_Missense_Mutation_p.E528D|SMARCA1_ENST00000371123.1_Missense_Mutation_p.E528D	NM_003069.3	NP_003060.2	P28370	SMCA1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1	528	Helicase C-terminal.				ATP-dependent chromatin remodeling|brain development|neuron differentiation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	NURF complex	ATP binding|DNA binding|helicase activity|nucleosome binding|protein binding			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1)	45						GTCGACAATACTCATAACCAC	0.383													14	107					1.3612e-06	1.56842e-06	1	1	0	A	128630769	C	A	128630769	3	1	81	1	0	0	0	0	1	0	0	0	14822	564	20	4	1632	4	SMARCA1	23	128630769	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1445504	128630769	26639791	15431	19047											
OCRL	4952	broad.mit.edu	37	X	128692974	128692974	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:128692974T>C	ENST00000371113.4	+	8	883	c.718T>C	c.(718-720)Ttc>Ctc	p.F240L	OCRL_ENST00000357121.5_Missense_Mutation_p.F240L	NM_000276.3	NP_000267.2	Q01968	OCRL_HUMAN	oculocerebrorenal syndrome of Lowe	240					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	clathrin-coated vesicle|cytosol|early endosome|Golgi stack|Golgi-associated vesicle	GTPase activator activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding			breast(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|upper_aerodigestive_tract(3)	48						CATTCAGACTTTCAGGTTAGT	0.398													9	99					0	0	1	0	0	C	128692974	T	C	128692974	3	2	81	1	0	0	0	0	1	0	0	0	10871	1841	64	3	748	3	OCRL	23	128692974	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	62205	128692974	26577586	15432	19048											
OCRL	4952	broad.mit.edu	37	X	128723882	128723882	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:128723882C>T	ENST00000371113.4	+	23	2695	c.2530C>T	c.(2530-2532)Cga>Tga	p.R844*	OCRL_ENST00000357121.5_Nonsense_Mutation_p.R836*	NM_000276.3	NP_000267.2	Q01968	OCRL_HUMAN	oculocerebrorenal syndrome of Lowe	844	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	clathrin-coated vesicle|cytosol|early endosome|Golgi stack|Golgi-associated vesicle	GTPase activator activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding			breast(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|upper_aerodigestive_tract(3)	48						GGCATTCCTTCGAGAACTCTT	0.423													14	151					0	0	1	0	0	T	128723882	C	T	128723882	4	4	81	1	0	0	0	0	0	1	0	0	10871	876	31	1	2620	1	OCRL	23	128723882	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	30908	128723882	26546678	15433	19049											
UTP14A	10813	broad.mit.edu	37	X	129053459	129053459	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:129053459delG	ENST00000394422.3	+	8	774	c.746delG	c.(745-747)agtfs	p.S249fs	UTP14A_ENST00000425117.2_Frame_Shift_Del_p.S197fs|UTP14A_ENST00000371051.5_Frame_Shift_Del_p.S195fs|RP4-537K23.4_ENST00000432062.1_RNA|UTP14A_ENST00000371042.3_Frame_Shift_Del_p.S81fs	NM_006649.3	NP_006640.2	Q9BVJ6	UT14A_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein, homolog A (yeast)	249					rRNA processing	nucleolus|small-subunit processome	protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(16)|ovary(3)|urinary_tract(1)	32						AAAATCAAAAGTAAAAAGTAA	0.478													9	74	---	---	---	---						-	129053459	G	-	129053459	7	5	81	1	0	1	0	1	0	0	0	0	17155	1029	36	0	776	0	UTP14A	23	129053459	Frame_Shift_Del	DEL	G	TCGA-DU-6392-01A-11D-1705-08	329577	129053459	26217101	15434	19050											
BCORL1	63035	broad.mit.edu	37	X	129139263	129139263	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:129139263G>A	ENST00000540052.1	+	1	100	c.56G>A	c.(55-57)cGg>cAg	p.R19Q	BCORL1_ENST00000607874.1_3'UTR|BCORL1_ENST00000303743.5_Missense_Mutation_p.R19Q|BCORL1_ENST00000218147.7_Missense_Mutation_p.R19Q|BCORL1_ENST00000359304.2_Missense_Mutation_p.R19Q	NM_021946.4	NP_068765	Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	19					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						AGTTCTGACCGGATTCGCATG	0.607													63	119					0	0	1	0	0	A	129139263	G	A	129139263	3	1	81	1	0	0	0	0	1	0	0	0	1385	1116	39	1	58	1	BCORL1	23	129139263	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	85804	129139263	26131297	15435	19051											
BCORL1	63035	broad.mit.edu	37	X	129184752	129184752	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:129184752A>G	ENST00000540052.1	+	10	4723	c.4679A>G	c.(4678-4680)tAc>tGc	p.Y1560C	BCORL1_ENST00000303743.5_Missense_Mutation_p.Y1634C|BCORL1_ENST00000218147.7_Missense_Mutation_p.Y1560C|BCORL1_ENST00000359304.2_Missense_Mutation_p.Y1430C	NM_021946.4	NP_068765	Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	1560					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						TGGGATTTTTACAGCAGTTCT	0.502													21	177					0	0	1	0	0	G	129184752	A	G	129184752	3	3	81	1	0	0	0	0	1	0	0	0	1385	391	14	3	4943	3	BCORL1	23	129184752	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	45489	129184752	26085808	15436	19052											
ELF4	2000	broad.mit.edu	37	X	129205192	129205192	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:129205192A>G	ENST00000308167.5	-	7	1011	c.632T>C	c.(631-633)cTg>cCg	p.L211P	ELF4_ENST00000335997.7_Missense_Mutation_p.L211P	NM_001421.3	NP_001412.1	Q99607	ELF4_HUMAN	E74-like factor 4 (ets domain transcription factor)	211					natural killer cell proliferation|NK T cell proliferation|positive regulation of transcription from RNA polymerase II promoter	PML body	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	22						GAACTCCCACAGATAGATGGT	0.617			T	ERG	AML								4	75					0	0	1	0	0	G	129205192	A	G	129205192	3	3	81	1	0	0	0	0	1	0	0	0	5084	188	7	3	1371	3	ELF4	23	129205192	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	20440	129205192	26065368	15437	19053											
ELF4	2000	broad.mit.edu	37	X	129208064	129208064	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:129208064A>G	ENST00000308167.5	-	4	679	c.300T>C	c.(298-300)aaT>aaC	p.N100N	ELF4_ENST00000335997.7_Silent_p.N100N	NM_001421.3	NP_001412.1	Q99607	ELF4_HUMAN	E74-like factor 4 (ets domain transcription factor)	100	RUNX1-binding.				natural killer cell proliferation|NK T cell proliferation|positive regulation of transcription from RNA polymerase II promoter	PML body	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	22						GAGACTCCATATTGAGTAAGA	0.478			T	ERG	AML								8	118					0	0	1	0	0	G	129208064	A	G	129208064	2	3	81	1	0	0	0	0	0	0	0	1	5084	446	16	3		3	ELF4	23	129208064	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	2872	129208064	26062496	15438	19054											
AIFM1	9131	broad.mit.edu	37	X	129265659	129265659	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:129265659C>A	ENST00000287295.3	-	14	1794	c.1564G>T	c.(1564-1566)Gag>Tag	p.E522*	AIFM1_ENST00000460436.2_Nonsense_Mutation_p.E183*|AIFM1_ENST00000440263.1_Nonsense_Mutation_p.E170*|AIFM1_ENST00000535724.1_3'UTR|AIFM1_ENST00000319908.3_Nonsense_Mutation_p.E518*|AIFM1_ENST00000346424.2_Nonsense_Mutation_p.E235*	NM_001130847.3|NM_004208.3	NP_001124319.1|NP_004199.1	O95831	AIFM1_HUMAN	apoptosis-inducing factor, mitochondrion-associated, 1	522					activation of caspase activity|apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change	cytosol|mitochondrial inner membrane|mitochondrial intermembrane space|nucleus|perinuclear region of cytoplasm	DNA binding|electron carrier activity|flavin adenine dinucleotide binding|oxidoreductase activity|protein binding			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(4)|prostate(2)|urinary_tract(1)	30						CCTGACTGCTCTGTGGCAGAT	0.488													14	257					3.27435e-08	3.88014e-08	1	1	0	A	129265659	C	A	129265659	4	1	81	1	0	0	0	0	0	1	0	0	423	922	32	4	289	4	AIFM1	23	129265659	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	57595	129265659	26004901	15439	19055											
AIFM1	9131	broad.mit.edu	37	X	129290550	129290550	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:129290550G>T	ENST00000287295.3	-	2	364	c.134C>A	c.(133-135)cCt>cAt	p.P45H	AIFM1_ENST00000535724.1_Intron|AIFM1_ENST00000319908.3_Intron|AIFM1_ENST00000346424.2_Intron	NM_001130847.3|NM_004208.3	NP_001124319.1|NP_004199.1	O95831	AIFM1_HUMAN	apoptosis-inducing factor, mitochondrion-associated, 1	45					activation of caspase activity|apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change	cytosol|mitochondrial inner membrane|mitochondrial intermembrane space|nucleus|perinuclear region of cytoplasm	DNA binding|electron carrier activity|flavin adenine dinucleotide binding|oxidoreductase activity|protein binding			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(4)|prostate(2)|urinary_tract(1)	30						GAGTTCTAGAGGAACATGCCA	0.358													14	222					1.02788e-11	1.2764e-11	1	1	0	T	129290550	G	T	129290550	3	4	81	1	0	0	0	0	1	0	0	0	423	1000	35	4	1914	4	AIFM1	23	129290550	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	24891	129290550	25980010	15440	19056											
RAB33A	9363	broad.mit.edu	37	X	129318396	129318396	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:129318396C>A	ENST00000257017.4	+	2	810	c.396C>A	c.(394-396)atC>atA	p.I132I		NM_004794.2	NP_004785.1	Q14088	RB33A_HUMAN	RAB33A, member RAS oncogene family	132					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(5)	11						AAATGTGGATCCAAGAATGCA	0.507													6	65					0.00198382	0.00209725	1	1	0	A	129318396	C	A	129318396	2	1	81	1	0	0	0	0	0	0	0	1	12974	845	30	5		5	RAB33A	23	129318396	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	27846	129318396	25952164	15441	19057											
ZNF280C	55609	broad.mit.edu	37	X	129370553	129370553	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:129370553G>T	ENST00000370978.4	-	7	707	c.554C>A	c.(553-555)aCt>aAt	p.T185N		NM_017666.4	NP_060136.1	Q8ND82	Z280C_HUMAN	zinc finger protein 280C	185	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(4)|large_intestine(9)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	26						TTTTTTTGGAGTAACACTGTT	0.343													7	83					1.06961e-07	1.25755e-07	1	1	0	T	129370553	G	T	129370553	3	4	81	1	0	0	0	0	1	0	0	0	17874	1029	36	4	1711	4	ZNF280C	23	129370553	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	52157	129370553	25900007	15442	19058											
SLC25A14	9016	broad.mit.edu	37	X	129480618	129480618	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:129480618G>A	ENST00000543953.1	+	3	214	c.165G>A	c.(163-165)gcG>gcA	p.A55A	SLC25A14_ENST00000545805.1_Silent_p.A90A|SLC25A14_ENST00000218197.5_Silent_p.A90A|SLC25A14_ENST00000467496.1_3'UTR|SLC25A14_ENST00000339231.3_Silent_p.A87A|SLC25A14_ENST00000361980.5_Silent_p.A87A			O95258	UCP5_HUMAN	solute carrier family 25 (mitochondrial carrier, brain), member 14	90			E -> A (in dbSNP:rs2143598).		aerobic respiration|mitochondrial transport	integral to plasma membrane|mitochondrial inner membrane	binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)	22						TGTTCCATGCGCTGTTTCGCA	0.423													49	85					0	0	1	0	0	A	129480618	G	A	129480618	2	1	81	1	0	0	0	0	0	0	0	1	14531	1074	38	1		1	SLC25A14	23	129480618	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	110065	129480618	25789942	15443	19059											
SLC25A14	9016	broad.mit.edu	37	X	129492622	129492622	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:129492622G>A	ENST00000543953.1	+	6	451	c.402G>A	c.(400-402)atG>atA	p.M134I	SLC25A14_ENST00000545805.1_Missense_Mutation_p.M169I|SLC25A14_ENST00000218197.5_Missense_Mutation_p.M169I|SLC25A14_ENST00000467496.1_3'UTR|SLC25A14_ENST00000339231.3_Missense_Mutation_p.M166I|SLC25A14_ENST00000361980.5_Missense_Mutation_p.M166I			O95258	UCP5_HUMAN	solute carrier family 25 (mitochondrial carrier, brain), member 14	169					aerobic respiration|mitochondrial transport	integral to plasma membrane|mitochondrial inner membrane	binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)	22						AGATTCGAATGCAGGCTCAAG	0.358													31	47					0	0	1	0	0	A	129492622	G	A	129492622	3	1	81	1	0	0	0	0	1	0	0	0	14531	1319	46	2	529	2	SLC25A14	23	129492622	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	12004	129492622	25777938	15444	19060											
SLC25A14	9016	broad.mit.edu	37	X	129499620	129499620	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:129499620C>A	ENST00000218197.5	+	8	1052	c.825C>A	c.(823-825)ctC>ctA	p.L275L	SLC25A14_ENST00000467496.1_3'UTR|SLC25A14_ENST00000339231.3_Silent_p.L303L|SLC25A14_ENST00000543953.1_3'UTR|SLC25A14_ENST00000361980.5_Silent_p.L272L	NM_001282195.1|NM_001282196.1|NM_001282198.1	NP_001269124.1|NP_001269125.1|NP_001269127.1	O95258	UCP5_HUMAN	solute carrier family 25 (mitochondrial carrier, brain), member 14	275					aerobic respiration|mitochondrial transport	integral to plasma membrane|mitochondrial inner membrane	binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)	22						ATGTGGATCTCTATAAGGGCA	0.453													76	139					5.78891e-16	7.40994e-16	1	1	0	A	129499620	C	A	129499620	2	1	81	1	0	0	0	0	0	0	0	1	14531	900	32	4		4	SLC25A14	23	129499620	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	6998	129499620	25770940	15445	19061											
RBMX2	51634	broad.mit.edu	37	X	129546780	129546780	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:129546780G>T	ENST00000305536.6	+	6	991	c.927G>T	c.(925-927)cgG>cgT	p.R309R		NM_016024.2	NP_057108.2	Q9Y388	RBMX2_HUMAN	RNA binding motif protein, X-linked 2	309	Arg-rich.			SSDAHSSWYNGRSEGRSYRSRSRSRDKSHRHKRARRSRERE SSNPSDRWRH -> LQMHILAGIMGVLKGVVIEVEVGAEIN PIGIKGPDAPGRGVLRIPVTVGVTEDFSCTVDLEIIMFFKC SQIQLGGYYFCI (in Ref. 1; AAD34074).			nucleotide binding|RNA binding			breast(4)|endometrium(2)|large_intestine(1)|liver(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	19						GACGCTCCCGGGAGCGGGAGT	0.458													18	44					1.96292e-10	2.40212e-10	1	1	0	T	129546780	G	T	129546780	2	4	81	1	0	0	0	0	0	0	0	1	13204	1219	43	5		5	RBMX2	23	129546780	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	47160	129546780	25723780	15446	19062											
ENOX2	10495	broad.mit.edu	37	X	129765465	129765465	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:129765465G>T	ENST00000338144.3	-	14	2009	c.1592C>A	c.(1591-1593)tCt>tAt	p.S531Y	ENOX2_ENST00000370927.1_Missense_Mutation_p.S531Y|ENOX2_ENST00000370935.1_Missense_Mutation_p.S502Y|ENOX2_ENST00000394363.1_Missense_Mutation_p.S502Y	NM_182314.1	NP_872114.1	Q16206	ENOX2_HUMAN	ecto-NOX disulfide-thiol exchanger 2	531					cell growth|electron transport chain|regulation of growth|transport|ultradian rhythm	cytosol|external side of plasma membrane|extracellular space	nucleic acid binding|nucleotide binding|protein disulfide oxidoreductase activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(3)	33						TTCACGTTCAGATTTGATAGG	0.478													43	91					5.44703e-19	7.08289e-19	1	1	0	T	129765465	G	T	129765465	3	4	81	1	0	0	0	0	1	0	0	0	5155	942	33	4	252	4	ENOX2	23	129765465	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	218685	129765465	25505095	15447	19063											
ARHGAP36	158763	broad.mit.edu	37	X	130219946	130219947	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:130219946_130219947insA	ENST00000276211.5	+	9	1509_1510	c.1164_1165insA	c.(1165-1167)aaafs	p.K389fs	ARHGAP36_ENST00000370922.1_Frame_Shift_Ins_p.K377fs|ARHGAP36_ENST00000370921.1_Frame_Shift_Ins_p.K253fs	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN	Rho GTPase activating protein 36	389	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						CTGCTCTCCTGAAAAAAGGAAA	0.465													123	189	---	---	---	---						A	130219947	-	A	130219946	7	5	81	1	0	1	1	0	0	0	0	0	880	1277	45	0	1194	0	ARHGAP36	23	130219946	Frame_Shift_Ins	INS	-	TCGA-DU-6392-01A-11D-1705-08	454481	130219946	25050614	15448	19064											
FRMD7	90167	broad.mit.edu	37	X	131228096	131228096	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:131228096G>A	ENST00000298542.4	-	5	531	c.356C>T	c.(355-357)gCg>gTg	p.A119V	FRMD7_ENST00000464296.1_Missense_Mutation_p.A104V|FRMD7_ENST00000370879.1_5'UTR	NM_194277.2	NP_919253.1	Q6ZUT3	FRMD7_HUMAN	FERM domain containing 7	119	FERM.				regulation of neuron projection development	cytoskeleton|growth cone|neuronal cell body	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Acute lymphoblastic leukemia(192;0.000127)					TACCATCAACGCTGTACAGTT	0.443													76	120					0	0	1	0	0	A	131228096	G	A	131228096	3	1	81	1	0	0	0	0	1	0	0	0	6090	1087	38	1	1820	1	FRMD7	23	131228096	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1008150	131228096	24042464	15449	19065											
RAP2C	57826	broad.mit.edu	37	X	131348449	131348449	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:131348449A>G	ENST00000342983.2	-	3	1045	c.299T>C	c.(298-300)aTt>aCt	p.I100T	RAP2C_ENST00000460462.1_5'UTR|RAP2C_ENST00000370874.1_Missense_Mutation_p.I100T	NM_001271187.1|NM_021183.4	NP_001258116.1|NP_067006.3	Q9Y3L5	RAP2C_HUMAN	RAP2C, member of RAS oncogene family	100					negative regulation of cell migration|positive regulation of protein autophosphorylation|Rap protein signal transduction|regulation of protein tyrosine kinase activity	recycling endosome membrane	GTP binding|GTPase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|ovary(1)|upper_aerodigestive_tract(2)	8	Acute lymphoblastic leukemia(192;0.000127)					CACTCTGACAATTTGATCTCT	0.348													4	40					0	0	1	0	0	G	131348449	A	G	131348449	3	3	81	1	0	0	0	0	1	0	0	0	13094	101	4	3	256	3	RAP2C	23	131348449	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	120353	131348449	23922111	15450	19066											
RAP2C	57826	broad.mit.edu	37	X	131351031	131351031	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:131351031G>A	ENST00000342983.2	-	2	1012	c.266C>T	c.(265-267)tCt>tTt	p.S89F	RAP2C_ENST00000460462.1_5'UTR|RAP2C_ENST00000370874.1_Missense_Mutation_p.S89F	NM_001271187.1|NM_021183.4	NP_001258116.1|NP_067006.3	Q9Y3L5	RAP2C_HUMAN	RAP2C, member of RAS oncogene family	89					negative regulation of cell migration|positive regulation of protein autophosphorylation|Rap protein signal transduction|regulation of protein tyrosine kinase activity	recycling endosome membrane	GTP binding|GTPase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|ovary(1)|upper_aerodigestive_tract(2)	8	Acute lymphoblastic leukemia(192;0.000127)					TACCTGAAAAGACTGTTGATT	0.458													37	66					0	0	1	0	0	A	131351031	G	A	131351031	3	1	81	1	0	0	0	0	1	0	0	0	13094	942	33	2	293	2	RAP2C	23	131351031	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2582	131351031	23919529	15451	19067											
MBNL3	55796	broad.mit.edu	37	X	131540345	131540345	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:131540345G>A	ENST00000538204.1	-	2	168	c.103C>T	c.(103-105)Cgg>Tgg	p.R35W	MBNL3_ENST00000370853.3_Missense_Mutation_p.R85W|MBNL3_ENST00000370849.3_Missense_Mutation_p.R35W|MBNL3_ENST00000473364.1_5'UTR|MBNL3_ENST00000370844.1_5'UTR|MBNL3_ENST00000370857.3_Missense_Mutation_p.R85W|RAP2C-AS1_ENST00000441399.2_RNA|MBNL3_ENST00000394311.2_5'UTR|MBNL3_ENST00000370839.3_Missense_Mutation_p.R85W|RAP2C-AS1_ENST00000421483.2_RNA	NM_001170702.1	NP_001164173.1	Q9NUK0	MBNL3_HUMAN	muscleblind-like splicing regulator 3	85					mRNA processing|multicellular organismal development|regulation of RNA splicing|RNA splicing	Golgi apparatus|nucleus	nucleic acid binding|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|prostate(2)	16	Acute lymphoblastic leukemia(192;0.000127)					AGATTGTTCCGCCCATTAATC	0.483													5	98					0	0	1	0	0	A	131540345	G	A	131540345	3	1	81	1	0	0	0	0	1	0	0	0	9405	1086	38	1	900	1	MBNL3	23	131540345	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	189314	131540345	23730215	15452	19068											
HS6ST2	90161	broad.mit.edu	37	X	132092321	132092321	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:132092321G>A	ENST00000370836.2	-	2	725	c.310C>T	c.(310-312)Cgc>Tgc	p.R104C	HS6ST2_ENST00000521489.1_Missense_Mutation_p.R104C	NM_147175.3	NP_671704.3	Q96MM7	H6ST2_HUMAN	heparan sulfate 6-O-sulfotransferase 2	104						integral to membrane	sulfotransferase activity			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(2)	9	Acute lymphoblastic leukemia(192;0.000127)					AGGTCCCAGCGTCGCCTGAGG	0.721													3	9					0	0	1	0	0	A	132092321	G	A	132092321	3	1	81	1	0	0	0	0	1	0	0	0	7412	1145	40	1		1	HS6ST2	23	132092321	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	551976	132092321	23178239	15453	19069											
HS6ST2	90161	broad.mit.edu	37	X	132092388	132092388	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:132092388G>A	ENST00000370836.2	-	2	658	c.243C>T	c.(241-243)gcC>gcT	p.A81A	HS6ST2_ENST00000521489.1_Silent_p.A81A	NM_147175.3	NP_671704.3	Q96MM7	H6ST2_HUMAN	heparan sulfate 6-O-sulfotransferase 2	81						integral to membrane	sulfotransferase activity			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(2)	9	Acute lymphoblastic leukemia(192;0.000127)					GGGCGCACGCGGCTCCCGCCA	0.726													4	12					0	0	1	0	0	A	132092388	G	A	132092388	2	1	81	1	0	0	0	0	0	0	0	1	7412	1103	39	1		1	HS6ST2	23	132092388	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	67	132092388	23178172	15454	19070											
USP26	83844	broad.mit.edu	37	X	132160551	132160551	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:132160551T>C	ENST00000511190.1	-	6	2167	c.1698A>G	c.(1696-1698)gaA>gaG	p.E566E	USP26_ENST00000406273.1_Silent_p.E566E|USP26_ENST00000370832.1_Silent_p.E566E	NM_031907.1	NP_114113.1	Q9BXU7	UBP26_HUMAN	ubiquitin specific peptidase 26	566					protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60	Acute lymphoblastic leukemia(192;0.000127)					AATCTGTAATTTCTCCATCCT	0.393													6	92					0	0	1	0	0	C	132160551	T	C	132160551	2	2	81	1	0	0	0	0	0	0	0	1	17117	1838	64	3		3	USP26	23	132160551	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	68163	132160551	23110009	15455	19071											
USP26	83844	broad.mit.edu	37	X	132161017	132161017	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:132161017A>G	ENST00000511190.1	-	6	1701	c.1232T>C	c.(1231-1233)tTt>tCt	p.F411S	USP26_ENST00000406273.1_Missense_Mutation_p.F411S|USP26_ENST00000370832.1_Missense_Mutation_p.F411S	NM_031907.1	NP_114113.1	Q9BXU7	UBP26_HUMAN	ubiquitin specific peptidase 26	411					protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60	Acute lymphoblastic leukemia(192;0.000127)					ATCTTCCCCAAATTCACTTTT	0.373													43	90					0	0	1	0	0	G	132161017	A	G	132161017	3	3	81	1	0	0	0	0	1	0	0	0	17117	14	1	3	1512	3	USP26	23	132161017	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	466	132161017	23109543	15456	19072											
USP26	83844	broad.mit.edu	37	X	132161316	132161316	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:132161316C>A	ENST00000511190.1	-	6	1402	c.933G>T	c.(931-933)caG>caT	p.Q311H	USP26_ENST00000406273.1_Missense_Mutation_p.Q311H|USP26_ENST00000370832.1_Missense_Mutation_p.Q311H	NM_031907.1	NP_114113.1	Q9BXU7	UBP26_HUMAN	ubiquitin specific peptidase 26	311					protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60	Acute lymphoblastic leukemia(192;0.000127)					AAAGTAGAGACTGTAACACTG	0.393													27	36					3.73988e-18	4.8429e-18	1	1	0	A	132161316	C	A	132161316	3	1	81	1	0	0	0	0	1	0	0	0	17117	564	20	4	1811	4	USP26	23	132161316	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	299	132161316	23109244	15457	19073											
TFDP3	51270	broad.mit.edu	37	X	132351436	132351436	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:132351436G>A	ENST00000310125.4	-	1	940	c.852C>T	c.(850-852)agC>agT	p.S284S		NM_016521.2	NP_057605.3	Q5H9I0	TFDP3_HUMAN	transcription factor Dp family, member 3	284	DCB2 (By similarity).|Involved in negatively regulating E2F activity.					transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(1)|lung(8)|ovary(1)|prostate(2)	19	Acute lymphoblastic leukemia(192;0.000127)					TTTCAAAGGAGCTGTTAAACT	0.478													37	87					0	0	1	0	0	A	132351436	G	A	132351436	2	1	81	1	0	0	0	0	0	0	0	1	15859	962	34	2		2	TFDP3	23	132351436	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	190120	132351436	22919124	15458	19074											
TFDP3	51270	broad.mit.edu	37	X	132351787	132351787	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:132351787G>T	ENST00000310125.4	-	1	589	c.501C>A	c.(499-501)gcC>gcA	p.A167A		NM_016521.2	NP_057605.3	Q5H9I0	TFDP3_HUMAN	transcription factor Dp family, member 3	167						transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(1)|lung(8)|ovary(1)|prostate(2)	19	Acute lymphoblastic leukemia(192;0.000127)					GCACGTTTAAGGCATCGTAGG	0.502													24	45					2.32416e-17	2.99827e-17	1	1	0	T	132351787	G	T	132351787	2	4	81	1	0	0	0	0	0	0	0	1	15859	987	35	4		4	TFDP3	23	132351787	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	351	132351787	22918773	15459	19075											
GPC3	2719	broad.mit.edu	37	X	132887606	132887606	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:132887606C>A	ENST00000370818.3	-	3	1380	c.935G>T	c.(934-936)aGa>aTa	p.R312I	GPC3_ENST00000394299.2_Missense_Mutation_p.R312I|GPC3_ENST00000543339.1_Missense_Mutation_p.R258I	NM_001164618.1|NM_004484.3	NP_001158090.1|NP_004475.1	P51654	GPC3_HUMAN	glypican 3	312						extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding|peptidyl-dipeptidase inhibitor activity			breast(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|prostate(1)|skin(2)	36	Acute lymphoblastic leukemia(192;0.000127)					GTCATAGATTCTGTACATGCC	0.443			"T, D, Mis, N, F, S"			Wilms tumour			Simpson-Golabi-Behmel syndrome				12	136					0.00010058	0.000110448	1	1	0	A	132887606	C	A	132887606	3	1	81	1	0	0	0	0	1	0	0	0	6639	913	32	4	904	4	GPC3	23	132887606	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	535819	132887606	22382954	15460	19076											
CCDC160	347475	broad.mit.edu	37	X	133379664	133379664	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:133379664C>T	ENST00000517294.1	+	3	1217	c.834C>T	c.(832-834)ctC>ctT	p.L278L	CCDC160_ENST00000370809.4_Silent_p.L278L			A6NGH7	CC160_HUMAN	coiled-coil domain containing 160	278										endometrium(1)|kidney(2)|large_intestine(10)|lung(2)|prostate(1)|skin(1)	17						GCGGAGAGCTCAGTGTCATCA	0.378													5	21					0	0	1	0	0	T	133379664	C	T	133379664	2	4	81	1	0	0	0	0	0	0	0	1	2811	813	29	2		2	CCDC160	23	133379664	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	492058	133379664	21890896	15461	19077											
FAM122B	159090	broad.mit.edu	37	X	133919928	133919928	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:133919928G>T	ENST00000370790.1	-	7	1418	c.490C>A	c.(490-492)Ctt>Att	p.L164I	FAM122B_ENST00000493333.1_5'UTR|FAM122B_ENST00000343004.5_Missense_Mutation_p.L183I|FAM122B_ENST00000298090.6_Missense_Mutation_p.L183I|FAM122B_ENST00000486347.1_Missense_Mutation_p.L165I	NM_001166599.2|NM_145284.5	NP_001160071.1|NP_660327.2	Q7Z309	F122B_HUMAN	family with sequence similarity 122B	164										breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|skin(1)	6	Acute lymphoblastic leukemia(192;0.000127)					TTTCTTTTAAGAGGACCAAGA	0.393													5	109					2.7689e-08	3.2887e-08	1	1	0	T	133919928	G	T	133919928	3	4	81	1	0	0	0	0	1	0	0	0	5451	942	33	4	339	4	FAM122B	23	133919928	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	540264	133919928	21350632	15462	19078											
MOSPD1	56180	broad.mit.edu	37	X	134033182	134033182	+	Silent	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:134033182A>T	ENST00000370783.3	-	3	354	c.168T>A	c.(166-168)acT>acA	p.T56T	MOSPD1_ENST00000370779.4_Silent_p.T56T|MOSPD1_ENST00000370777.1_Silent_p.T56T|MOSPD1_ENST00000491609.1_Intron	NM_019556.1	NP_062456.1	Q9UJG1	MSPD1_HUMAN	motile sperm domain containing 1	56	MSP.				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter	integral to membrane|nucleus|perinuclear region of cytoplasm	structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(1)|ovary(1)	9	Acute lymphoblastic leukemia(192;0.000127)					ACTTATTTGGAGTAGTACACA	0.338													17	152					0	0	1	0	0	T	134033182	A	T	134033182	2	4	81	1	0	0	0	0	0	0	0	1	9764	291	11	5		5	MOSPD1	23	134033182	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	113254	134033182	21237378	15463	19079											
CXorf48	54967	broad.mit.edu	37	X	134305083	134305083	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:134305083G>T	ENST00000344129.2	-	1	239	c.13C>A	c.(13-15)Ctg>Atg	p.L5M	CXorf48_ENST00000276241.6_Missense_Mutation_p.L5M	NM_017863.2	NP_060333.1	Q8WUE5	CX048_HUMAN	chromosome X open reading frame 48	5										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)	5	Acute lymphoblastic leukemia(192;0.000127)					GCAAGTCTCAGAAGCCTGAGC	0.632													28	34					1.2476e-16	1.60284e-16	1	1	0	T	134305083	G	T	134305083	3	4	81	1	0	0	0	0	1	0	0	0	4134	933	33	4	809	4	CXorf48	23	134305083	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	271901	134305083	20965477	15464	19080											
ZNF75D	7626	broad.mit.edu	37	X	134421643	134421643	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:134421643G>T	ENST00000370766.3	-	7	3668	c.959C>A	c.(958-960)cCt>cAt	p.P320H	ZNF75D_ENST00000494295.1_Intron|ZNF75D_ENST00000370764.1_Missense_Mutation_p.P225H	NM_007131.3	NP_009062.2	P51815	ZN75D_HUMAN	zinc finger protein 75D	320					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						TGTATCACCAGGATTTTCCCT	0.383													19	157					5.35267e-07	6.21096e-07	1	1	0	T	134421643	G	T	134421643	3	4	81	1	0	0	0	0	1	0	0	0	18184	1000	35	4	577	4	ZNF75D	23	134421643	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	116560	134421643	20848917	15465	19081											
ZNF75D	7626	broad.mit.edu	37	X	134421742	134421742	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:134421742G>T	ENST00000370766.3	-	7	3569	c.860C>A	c.(859-861)cCt>cAt	p.P287H	ZNF75D_ENST00000494295.1_Intron|ZNF75D_ENST00000370764.1_Missense_Mutation_p.P192H	NM_007131.3	NP_009062.2	P51815	ZN75D_HUMAN	zinc finger protein 75D	287	KRAB.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						AACAGATATAGGATGATCATT	0.363													9	94					5.4927e-09	6.5834e-09	1	1	0	T	134421742	G	T	134421742	3	4	81	1	0	0	0	0	1	0	0	0	18184	1000	35	4	676	4	ZNF75D	23	134421742	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	99	134421742	20848818	15466	19082											
ZNF75D	7626	broad.mit.edu	37	X	134424994	134424994	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:134424994A>G	ENST00000370766.3	-	6	3473	c.764T>C	c.(763-765)cTt>cCt	p.L255P	ZNF75D_ENST00000494295.1_Intron|ZNF75D_ENST00000370764.1_Missense_Mutation_p.L160P	NM_007131.3	NP_009062.2	P51815	ZN75D_HUMAN	zinc finger protein 75D	255	KRAB.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						AGTCTTCTCAAGAGGATTCAA	0.358													53	94					0	0	1	0	0	G	134424994	A	G	134424994	3	3	81	1	0	0	0	0	1	0	0	0	18184	72	3	3	776	3	ZNF75D	23	134424994	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	3252	134424994	20845566	15467	19083											
ZNF449	203523	broad.mit.edu	37	X	134494386	134494386	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:134494386G>T	ENST00000339249.4	+	5	1082	c.942G>T	c.(940-942)aaG>aaT	p.K314N		NM_152695.5	NP_689908.3	Q6P9G9	ZN449_HUMAN	zinc finger protein 449	314					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					AACCCCACAAGAAAAAGAGTC	0.468													30	34					7.01153e-11	8.62519e-11	1	1	0	T	134494386	G	T	134494386	3	4	81	1	0	0	0	0	1	0	0	0	17977	933	33	4	956	4	ZNF449	23	134494386	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	69392	134494386	20776174	15468	19084											
DDX26B	203522	broad.mit.edu	37	X	134681061	134681061	+	Splice_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:134681061G>A	ENST00000370752.4	+	6	947		c.e6-1		DDX26B_ENST00000481908.1_Splice_Site	NM_182540.4	NP_872346.3	Q5JSJ4	DX26B_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26B											large_intestine(1)|lung(8)	9	Acute lymphoblastic leukemia(192;6.56e-05)					TTCTGGGATAGGTCGCTCCTA	0.274													70	116					0	0	1	0	0	A	134681061	G	A	134681061	5	1	81	1	0	0	0	0	0	0	1	0	4376	1014	35	2	635	2	DDX26B	23	134681061	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	186675	134681061	20589499	15469	19085											
DDX26B	203522	broad.mit.edu	37	X	134707898	134707898	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:134707898A>G	ENST00000370752.4	+	12	1875	c.1541A>G	c.(1540-1542)gAt>gGt	p.D514G	DDX26B_ENST00000481908.1_3'UTR	NM_182540.4	NP_872346.3	Q5JSJ4	DX26B_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26B	514										large_intestine(1)|lung(8)	9	Acute lymphoblastic leukemia(192;6.56e-05)					AATGCTTATGATATTCCCCGT	0.338													32	41					0	0	1	0	0	G	134707898	A	G	134707898	3	3	81	1	0	0	0	0	1	0	0	0	4376	333	12	3	1587	3	DDX26B	23	134707898	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	26837	134707898	20562662	15470	19086											
DDX26B	203522	broad.mit.edu	37	X	134711196	134711196	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:134711196C>T	ENST00000370752.4	+	14	2186	c.1852C>T	c.(1852-1854)Cct>Tct	p.P618S	DDX26B_ENST00000481908.1_3'UTR	NM_182540.4	NP_872346.3	Q5JSJ4	DX26B_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26B	618										large_intestine(1)|lung(8)	9	Acute lymphoblastic leukemia(192;6.56e-05)					ACCCAACAGTCCTATGTCATC	0.468													77	121					0	0	1	0	0	T	134711196	C	T	134711196	3	4	81	1	0	0	0	0	1	0	0	0	4376	855	30	2	1906	2	DDX26B	23	134711196	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3298	134711196	20559364	15471	19087											
DDX26B	203522	broad.mit.edu	37	X	134711350	134711350	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:134711350C>T	ENST00000370752.4	+	14	2340	c.2006C>T	c.(2005-2007)aCa>aTa	p.T669I	DDX26B_ENST00000481908.1_Intron	NM_182540.4	NP_872346.3	Q5JSJ4	DX26B_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26B	669										large_intestine(1)|lung(8)	9	Acute lymphoblastic leukemia(192;6.56e-05)					CTTGTACATACAGGTATAGAG	0.443													9	55					0	0	1	0	0	T	134711350	C	T	134711350	3	4	81	1	0	0	0	0	1	0	0	0	4376	478	17	2	2060	2	DDX26B	23	134711350	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	154	134711350	20559210	15472	19088											
SAGE1	55511	broad.mit.edu	37	X	134989494	134989494	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:134989494C>A	ENST00000535938.1	+	9	1067	c.900C>A	c.(898-900)gtC>gtA	p.V300V	SAGE1_ENST00000537770.1_Intron|SAGE1_ENST00000324447.3_Silent_p.V300V|SAGE1_ENST00000370709.3_Silent_p.V300V	NM_018666.2	NP_061136.2	Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	300										breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55	Acute lymphoblastic leukemia(192;0.000127)					CTCACAATGTCTGTGAAGAGA	0.438													6	124					2.0095e-06	2.30238e-06	1	1	0	A	134989494	C	A	134989494	2	1	81	1	0	0	0	0	0	0	0	1	13861	900	32	4		4	SAGE1	23	134989494	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	278144	134989494	20281066	15473	19089											
SLC9A6	10479	broad.mit.edu	37	X	135067917	135067917	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:135067917C>A	ENST00000370695.4	+	1	291	c.256C>A	c.(256-258)Ctc>Atc	p.L86I	SLC9A6_ENST00000370701.1_Missense_Mutation_p.L34I|SLC9A6_ENST00000370698.3_Missense_Mutation_p.L86I	NM_001042537.1	NP_001036002.1	Q92581	SL9A6_HUMAN	solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6	86					regulation of pH	early endosome membrane|endoplasmic reticulum membrane|integral to membrane|microsome|plasma membrane|recycling endosome membrane	sodium:hydrogen antiporter activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(18)|ovary(2)|upper_aerodigestive_tract(1)	33	Acute lymphoblastic leukemia(192;0.000127)					CCTCACCATTCTCACAATCTG	0.592													12	162					3.27435e-08	3.88014e-08	1	1	0	A	135067917	C	A	135067917	3	1	81	1	0	0	0	0	1	0	0	0	14773	913	32	4	258	4	SLC9A6	23	135067917	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	78423	135067917	20202643	15474	19090											
MAP7D3	79649	broad.mit.edu	37	X	135314090	135314090	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:135314090G>A	ENST00000316077.9	-	8	1246	c.1026C>T	c.(1024-1026)agC>agT	p.S342S	MAP7D3_ENST00000370663.5_Silent_p.S324S|MAP7D3_ENST00000370661.1_Silent_p.S307S	NM_024597.3	NP_078873.2	Q8IWC1	MA7D3_HUMAN	MAP7 domain containing 3	342						cytoplasm|spindle				central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1)	44	Acute lymphoblastic leukemia(192;0.000127)					ACACGTCCACGCTCACCACAG	0.562													63	107					0	0	1	0	0	A	135314090	G	A	135314090	2	1	81	1	0	0	0	0	0	0	0	1	9319	1078	38	1		1	MAP7D3	23	135314090	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	246173	135314090	19956470	15475	19091											
MAP7D3	79649	broad.mit.edu	37	X	135314193	135314193	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:135314193T>C	ENST00000316077.9	-	8	1143	c.923A>G	c.(922-924)cAg>cGg	p.Q308R	MAP7D3_ENST00000370663.5_Missense_Mutation_p.Q290R|MAP7D3_ENST00000370661.1_Missense_Mutation_p.Q273R	NM_024597.3	NP_078873.2	Q8IWC1	MA7D3_HUMAN	MAP7 domain containing 3	308						cytoplasm|spindle				central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1)	44	Acute lymphoblastic leukemia(192;0.000127)					CACATTCACCTGGGGGGGTGC	0.537													17	261					0	0	1	0	0	C	135314193	T	C	135314193	3	2	81	1	0	0	0	0	1	0	0	0	9319	1580	55	3	1751	3	MAP7D3	23	135314193	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	103	135314193	19956367	15476	19092											
MAP7D3	79649	broad.mit.edu	37	X	135326876	135326876	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:135326876C>A	ENST00000316077.9	-	4	552	c.332G>T	c.(331-333)aGa>aTa	p.R111I	MAP7D3_ENST00000370663.5_Missense_Mutation_p.R93I|MAP7D3_ENST00000370661.1_Missense_Mutation_p.R111I	NM_024597.3	NP_078873.2	Q8IWC1	MA7D3_HUMAN	MAP7 domain containing 3	111						cytoplasm|spindle				central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1)	44	Acute lymphoblastic leukemia(192;0.000127)					CTTCAGCTTTCTCTGTCTTTC	0.358													35	71					2.80507e-11	3.47019e-11	1	1	0	A	135326876	C	A	135326876	3	1	81	1	0	0	0	0	1	0	0	0	9319	913	32	4	2358	4	MAP7D3	23	135326876	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	12683	135326876	19943684	15477	19093											
GPR112	139378	broad.mit.edu	37	X	135405040	135405040	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:135405040C>T	ENST00000394143.1	+	5	465	c.174C>T	c.(172-174)tgC>tgT	p.C58C	GPR112_ENST00000394141.1_Intron|GPR112_ENST00000412101.1_Intron|GPR112_ENST00000370652.1_Silent_p.C58C|GPR112_ENST00000287534.4_5'UTR	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	58					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					TCACAGCATGCATTGATCTGG	0.418													9	126					0	0	1	0	0	T	135405040	C	T	135405040	2	4	81	1	0	0	0	0	0	0	0	1	6669	718	25	2		2	GPR112	23	135405040	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	78164	135405040	19865520	15478	19094											
GPR112	139378	broad.mit.edu	37	X	135405204	135405204	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:135405204A>G	ENST00000394143.1	+	5	629	c.338A>G	c.(337-339)cAc>cGc	p.H113R	GPR112_ENST00000394141.1_Intron|GPR112_ENST00000412101.1_Intron|GPR112_ENST00000370652.1_Missense_Mutation_p.H113R|GPR112_ENST00000287534.4_Missense_Mutation_p.H50R	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	113					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					ATCCGTCACCACCTGGCTTCA	0.443													23	182					0	0	1	0	0	G	135405204	A	G	135405204	3	3	81	1	0	0	0	0	1	0	0	0	6669	159	6	3	344	3	GPR112	23	135405204	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	164	135405204	19865356	15479	19095											
GPR112	139378	broad.mit.edu	37	X	135427530	135427530	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:135427530G>T	ENST00000394143.1	+	6	1956	c.1665G>T	c.(1663-1665)aaG>aaT	p.K555N	GPR112_ENST00000394141.1_Missense_Mutation_p.K350N|GPR112_ENST00000412101.1_Missense_Mutation_p.K350N|GPR112_ENST00000370652.1_Missense_Mutation_p.K555N|GPR112_ENST00000287534.4_Missense_Mutation_p.K492N	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	555					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					CCTCCTCTAAGACCTTTTCTT	0.408													25	46					4.72057e-08	5.5797e-08	1	1	0	T	135427530	G	T	135427530	3	4	81	1	0	0	0	0	1	0	0	0	6669	933	33	4	1675	4	GPR112	23	135427530	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	22326	135427530	19843030	15480	19096											
GPR112	139378	broad.mit.edu	37	X	135428148	135428148	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:135428148delA	ENST00000394143.1	+	6	2574	c.2283delA	c.(2281-2283)ctafs	p.L761fs	GPR112_ENST00000394141.1_Frame_Shift_Del_p.L556fs|GPR112_ENST00000287534.4_Frame_Shift_Del_p.L698fs|GPR112_ENST00000412101.1_Frame_Shift_Del_p.L556fs|GPR112_ENST00000370652.1_Frame_Shift_Del_p.L761fs	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	761					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					CTTTACTACTAAAAACAATAC	0.358													9	88	---	---	---	---						-	135428148	A	-	135428148	7	5	81	1	0	1	0	1	0	0	0	0	6669	349	13	0	2293	0	GPR112	23	135428148	Frame_Shift_Del	DEL	A	TCGA-DU-6392-01A-11D-1705-08	618	135428148	19842412	15481	19097											
GPR112	139378	broad.mit.edu	37	X	135429126	135429126	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:135429126C>T	ENST00000394143.1	+	6	3552	c.3261C>T	c.(3259-3261)acC>acT	p.T1087T	GPR112_ENST00000394141.1_Silent_p.T882T|GPR112_ENST00000412101.1_Silent_p.T882T|GPR112_ENST00000370652.1_Silent_p.T1087T|GPR112_ENST00000287534.4_Silent_p.T1024T	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1087					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					TGATTCGTACCACTTCAGAGG	0.468													88	143					0	0	1	0	0	T	135429126	C	T	135429126	2	4	81	1	0	0	0	0	0	0	0	1	6669	581	21	2		2	GPR112	23	135429126	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	978	135429126	19841434	15482	19098											
GPR112	139378	broad.mit.edu	37	X	135430313	135430313	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:135430313A>G	ENST00000394143.1	+	6	4739	c.4448A>G	c.(4447-4449)gAc>gGc	p.D1483G	GPR112_ENST00000394141.1_Missense_Mutation_p.D1278G|GPR112_ENST00000412101.1_Missense_Mutation_p.D1278G|GPR112_ENST00000370652.1_Missense_Mutation_p.D1483G|GPR112_ENST00000287534.4_Missense_Mutation_p.D1420G	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1483					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					GTTCTCTCCGACAGGATCACT	0.438													13	181					0	0	1	0	0	G	135430313	A	G	135430313	3	3	81	1	0	0	0	0	1	0	0	0	6669	275	10	3	4458	3	GPR112	23	135430313	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	1187	135430313	19840247	15483	19099											
HTATSF1	27336	broad.mit.edu	37	X	135581814	135581814	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:135581814G>A	ENST00000535601.1	+	3	666	c.244G>A	c.(244-246)Gca>Aca	p.A82T	HTATSF1_ENST00000218364.4_Missense_Mutation_p.A82T	NM_001163280.1	NP_001156752.1	O43719	HTSF1_HUMAN	HIV-1 Tat specific factor 1	82					regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|viral genome replication	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(3)|prostate(1)	30	Acute lymphoblastic leukemia(192;0.000127)					TAACGATGGCGCATCTAGTTC	0.448													48	93					0	0	1	0	0	A	135581814	G	A	135581814	3	1	81	1	0	0	0	0	1	0	0	0	7477	1087	38	1	250	1	HTATSF1	23	135581814	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	151501	135581814	19688746	15484	19100											
HTATSF1	27336	broad.mit.edu	37	X	135593701	135593701	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:135593701C>A	ENST00000535601.1	+	10	2219	c.1797C>A	c.(1795-1797)aaC>aaA	p.N599K	HTATSF1_ENST00000218364.4_Missense_Mutation_p.N599K	NM_001163280.1	NP_001156752.1	O43719	HTSF1_HUMAN	HIV-1 Tat specific factor 1	599	Asp/Glu-rich (acidic).|Mediates interaction with the P-TEFb complex.				regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|viral genome replication	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(3)|prostate(1)	30	Acute lymphoblastic leukemia(192;0.000127)					ACTCTGAAAACTCCGAATTTG	0.393													36	79					6.90743e-12	8.5981e-12	1	1	0	A	135593701	C	A	135593701	3	1	81	1	0	0	0	0	1	0	0	0	7477	564	20	4	1831	4	HTATSF1	23	135593701	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	11887	135593701	19676859	15485	19101											
CD40LG	959	broad.mit.edu	37	X	135741287	135741287	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:135741287G>T	ENST00000370629.2	+	5	555	c.499G>T	c.(499-501)Gga>Tga	p.G167*	CD40LG_ENST00000370628.2_Nonsense_Mutation_p.G146*	NM_000074.2	NP_000065.1	P29965	CD40L_HUMAN	CD40 ligand	167					anti-apoptosis|B cell proliferation|inflammatory response|isotype switching|leukocyte cell-cell adhesion|platelet activation|positive regulation of endothelial cell apoptosis|positive regulation of interleukin-12 production	extracellular space|integral to plasma membrane|soluble fraction	CD40 receptor binding|cytokine activity|tumor necrosis factor receptor binding			endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|skin(1)|stomach(1)	26	Acute lymphoblastic leukemia(192;0.000127)				Atorvastatin(DB01076)	TAAAAGACAAGGACTCTATTA	0.458									Immune Deficiency with Hyper-IgM				156	239					7.32068e-81	9.87058e-81	1	1	0	T	135741287	G	T	135741287	4	4	81	1	0	0	0	0	0	1	0	0	3038	1001	35	4	517	4	CD40LG	23	135741287	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	147586	135741287	19529273	15486	19102											
ARHGEF6	9459	broad.mit.edu	37	X	135750301	135750301	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:135750301C>T	ENST00000250617.6	-	22	3423	c.2218G>A	c.(2218-2220)Gaa>Aaa	p.E740K	ARHGEF6_ENST00000535227.1_Missense_Mutation_p.E613K|ARHGEF6_ENST00000370622.1_Missense_Mutation_p.E586K|ARHGEF6_ENST00000370620.1_Missense_Mutation_p.E586K	NM_004840.2	NP_004831.1	Q15052	ARHG6_HUMAN	Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6	740					apoptosis|cell junction assembly|induction of apoptosis by extracellular signals|JNK cascade|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(1)|lung(14)|prostate(1)	38	Acute lymphoblastic leukemia(192;0.000127)					AGTTCTTCTTCCAGGCATTGC	0.473													37	97					0	0	1	0	0	T	135750301	C	T	135750301	3	4	81	1	0	0	0	0	1	0	0	0	907	864	30	2	116	2	ARHGEF6	23	135750301	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	9014	135750301	19520259	15487	19103											
RBMX	27316	broad.mit.edu	37	X	135957742	135957742	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:135957742G>A	ENST00000562646.1	-	6	698	c.544C>T	c.(544-546)Cct>Tct	p.P182S	RBMX_ENST00000565438.1_Missense_Mutation_p.P54S|RBMX_ENST00000320676.7_Missense_Mutation_p.P182S|RBMX_ENST00000570135.1_Missense_Mutation_p.P47S|RBMX_ENST00000431446.3_Silent_p.L73L			P38159	HNRPG_HUMAN	RNA binding motif protein, X-linked	182						catalytic step 2 spliceosome|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|urinary_tract(1)	33	Acute lymphoblastic leukemia(192;0.000127)					CGTGATACAGGAGCTTAAGGA	0.388													38	47					0	0	1	0	0	A	135957742	G	A	135957742	3	1	81	1	0	0	0	0	1	0	0	0	13203	1174	41	2	702	2	RBMX	23	135957742	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	207441	135957742	19312818	15488	19104											
GPR101	83550	broad.mit.edu	37	X	136112328	136112328	+	Silent	SNP	G	G	A	rs150021829		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:136112328G>A	ENST00000298110.1	-	1	1505	c.1506C>T	c.(1504-1506)taC>taT	p.Y502Y		NM_054021.1	NP_473362.1	Q96P66	GP101_HUMAN	G protein-coupled receptor 101	502						integral to membrane|plasma membrane	G-protein coupled receptor activity			autonomic_ganglia(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(18)|ovary(3)|skin(1)|urinary_tract(1)	42	Acute lymphoblastic leukemia(192;0.000127)					TAGCAGAATCGTAGGAAGGGA	0.463													27	42					0	0	1	0	0	A	136112328	G	A	136112328	2	1	81	1	0	0	0	0	0	0	0	1	6662	1140	40	1		1	GPR101	23	136112328	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	154586	136112328	19158232	15489	19105											
GPR101	83550	broad.mit.edu	37	X	136113612	136113612	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:136113612G>A	ENST00000298110.1	-	1	221	c.222C>T	c.(220-222)ctC>ctT	p.L74L		NM_054021.1	NP_473362.1	Q96P66	GP101_HUMAN	G protein-coupled receptor 101	74						integral to membrane|plasma membrane	G-protein coupled receptor activity			autonomic_ganglia(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(18)|ovary(3)|skin(1)|urinary_tract(1)	42	Acute lymphoblastic leukemia(192;0.000127)					GGTCGGTGACGAGGAGGTTAA	0.617													11	33					0	0	1	0	0	A	136113612	G	A	136113612	2	1	81	1	0	0	0	0	0	0	0	1	6662	1045	37	1		1	GPR101	23	136113612	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1284	136113612	19156948	15490	19106											
ZIC3	7547	broad.mit.edu	37	X	136649846	136649846	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:136649846delC	ENST00000287538.5	+	1	1546	c.996delC	c.(994-996)ttcfs	p.F332fs	ZIC3_ENST00000370606.3_Frame_Shift_Del_p.F332fs	NM_003413.3	NP_003404.1	O60481	ZIC3_HUMAN	Zic family member 3	332	Nuclear localization signal.				cell differentiation|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|soft_tissue(2)|urinary_tract(1)	37	Acute lymphoblastic leukemia(192;0.000127)					CATGCCCCTTCCCGGGCTGCG	0.597													59	119	---	---	---	---						-	136649846	C	-	136649846	7	5	81	1	0	1	0	1	0	0	0	0	17738	854	30	0	998	0	ZIC3	23	136649846	Frame_Shift_Del	DEL	C	TCGA-DU-6392-01A-11D-1705-08	536234	136649846	18620714	15491	19107											
FGF13	2258	broad.mit.edu	37	X	137939699	137939699	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:137939699G>T	ENST00000441825.2	-	1	142	c.105C>A	c.(103-105)caC>caA	p.H35Q	FGF13_ENST00000370603.3_Missense_Mutation_p.H64Q|FGF13_ENST00000541469.1_Intron	NM_001139501.1|NM_001139502.1	NP_001132973.1|NP_001132974.1	Q92913	FGF13_HUMAN	fibroblast growth factor 13	203					cell-cell signaling|MAPKKK cascade|nervous system development	cytoplasm|nucleus	growth factor activity|protein kinase activator activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)	24	Acute lymphoblastic leukemia(192;0.000127)					TCTCTTTGTGGTGTACTTGCT	0.443													10	133					2.27111e-07	2.65192e-07	1	1	0	T	137939699	G	T	137939699	3	4	81	1	0	0	0	0	1	0	0	0	5875	1252	44	5	818	5	FGF13	23	137939699	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1289853	137939699	17330861	15492	19108											
FGF13	2258	broad.mit.edu	37	X	137939758	137939758	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:137939758C>T	ENST00000441825.2	-	1	83	c.46G>A	c.(46-48)Gag>Aag	p.E16K	FGF13_ENST00000370603.3_Missense_Mutation_p.E45K|FGF13_ENST00000541469.1_Intron	NM_001139501.1|NM_001139502.1	NP_001132973.1|NP_001132974.1	Q92913	FGF13_HUMAN	fibroblast growth factor 13	0					cell-cell signaling|MAPKKK cascade|nervous system development	cytoplasm|nucleus	growth factor activity|protein kinase activator activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)	24	Acute lymphoblastic leukemia(192;0.000127)					AAGGGGGACTCTTTTTTCTTT	0.483													10	84					0	0	1	0	0	T	137939758	C	T	137939758	3	4	81	1	0	0	0	0	1	0	0	0	5875	922	32	2	877	2	FGF13	23	137939758	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	59	137939758	17330802	15493	19109											
F9	2158	broad.mit.edu	37	X	138630556	138630556	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:138630556G>T	ENST00000218099.2	+	5	433	c.426G>T	c.(424-426)gaG>gaT	p.E142D	F9_ENST00000394090.2_Missense_Mutation_p.E104D	NM_000133.3	NP_000124.1	P00740	FA9_HUMAN	coagulation factor IX	142	EGF-like 2.				blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen|plasma membrane	calcium ion binding|serine-type endopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|skin(1)	35	Acute lymphoblastic leukemia(192;0.000127)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Heparin(DB01109)|Menadione(DB00170)	GCAGATGCGAGCAGTTTTGTA	0.378													9	92					0.000274275	0.000297259	1	1	0	T	138630556	G	T	138630556	3	4	81	1	0	0	0	0	1	0	0	0	5382	962	34	4	444	4	F9	23	138630556	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	690798	138630556	16640004	15494	19110											
MCF2	4168	broad.mit.edu	37	X	138670585	138670585	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:138670585C>A	ENST00000520602.1	-	24	2848	c.2563G>T	c.(2563-2565)Gat>Tat	p.D855Y	MCF2_ENST00000536274.1_Missense_Mutation_p.D756Y|MCF2_ENST00000338585.6_Missense_Mutation_p.D811Y|MCF2_ENST00000370576.4_Missense_Mutation_p.D795Y|MCF2_ENST00000414978.1_Missense_Mutation_p.D855Y|MCF2_ENST00000519895.1_Missense_Mutation_p.D871Y|MCF2_ENST00000370573.4_Missense_Mutation_p.D795Y|MCF2_ENST00000370578.4_Missense_Mutation_p.D940Y			P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence	795					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|membrane|membrane fraction	protein binding|Rho guanyl-nucleotide exchange factor activity	p.D795H(2)|p.D871H(1)		NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62	Acute lymphoblastic leukemia(192;0.000127)					ATCTTCACATCTACATTAGAA	0.338													5	63					1	1	1	1	0	A	138670585	C	A	138670585	3	1	81	1	0	0	0	0	1	0	0	0	9428	913	32	4	442	4	MCF2	23	138670585	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	40029	138670585	16599975	15495	19111											
ATP11C	286410	broad.mit.edu	37	X	138864820	138864820	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:138864820C>A	ENST00000370557.1	-	18	2865	c.1838G>T	c.(1837-1839)aGa>aTa	p.R613I	ATP11C_ENST00000460773.1_5'UTR|ATP11C_ENST00000370543.1_Missense_Mutation_p.R616I|ATP11C_ENST00000327569.3_Missense_Mutation_p.R616I|ATP11C_ENST00000361648.2_Missense_Mutation_p.R616I|ATP11C_ENST00000359686.2_Missense_Mutation_p.R616I			Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C	616					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)					TATGAGCTGTCTGTTAATTCT	0.368													34	57					4.4194e-11	5.45873e-11	1	1	0	A	138864820	C	A	138864820	3	1	81	1	0	0	0	0	1	0	0	0	1120	913	32	4	1666	4	ATP11C	23	138864820	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	194235	138864820	16405740	15496	19112											
ATP11C	286410	broad.mit.edu	37	X	138882243	138882243	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:138882243C>A	ENST00000370557.1	-	8	1713	c.686G>T	c.(685-687)aGt>aTt	p.S229I	ATP11C_ENST00000370543.1_Missense_Mutation_p.S232I|ATP11C_ENST00000327569.3_Missense_Mutation_p.S232I|ATP11C_ENST00000361648.2_Missense_Mutation_p.S232I|ATP11C_ENST00000359686.2_Missense_Mutation_p.S232I			Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C	232					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)					AAGACTATTACTGTAGATATT	0.363													4	61					0.00909568	0.00944708	1	1	0	A	138882243	C	A	138882243	3	1	81	1	0	0	0	0	1	0	0	0	1120	565	20	4	2858	4	ATP11C	23	138882243	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	17423	138882243	16388317	15497	19113											
CXorf66	347487	broad.mit.edu	37	X	139038581	139038581	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:139038581C>T	ENST00000370540.1	-	3	583	c.560G>A	c.(559-561)aGc>aAc	p.S187N		NM_001013403.2	NP_001013421.1	Q5JRM2	CX066_HUMAN	chromosome X open reading frame 66	187						integral to membrane				breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|skin(1)|stomach(1)	26						TTTTTCTAGGCTGCCTTTCTT	0.403													25	233					0	0	1	0	0	T	139038581	C	T	139038581	3	4	81	1	0	0	0	0	1	0	0	0	4141	797	28	2	529	2	CXorf66	23	139038581	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	156338	139038581	16231979	15498	19114											
SOX3	6658	broad.mit.edu	37	X	139586632	139586632	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:139586632C>T	ENST00000370536.2	-	1	593	c.594G>A	c.(592-594)gtG>gtA	p.V198V		NM_005634.2	NP_005625.2	P41225	SOX3_HUMAN	SRY (sex determining region Y)-box 3	198					face development|hypothalamus development|negative regulation of neuron differentiation|pituitary gland development|regulation of transcription, DNA-dependent|sensory organ development|sex determination|transcription, DNA-dependent	nucleus	DNA binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1)	10	Acute lymphoblastic leukemia(192;7.65e-05)					CCTTCATGTGCACGGCGCGAA	0.592													5	37					0	0	1	0	0	T	139586632	C	T	139586632	2	4	81	1	0	0	0	0	0	0	0	1	15005	697	25	2		2	SOX3	23	139586632	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	548051	139586632	15683928	15499	19115											
MAGEC3	139081	broad.mit.edu	37	X	140969286	140969286	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:140969286C>A	ENST00000298296.1	+	4	613	c.613C>A	c.(613-615)Ctc>Atc	p.L205I	MAGEC3_ENST00000448920.1_Intron|MAGEC3_ENST00000443323.2_Intron|MAGEC3_ENST00000536088.1_Intron	NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	205	MAGE 1.									NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					AAAAGAGCCTCTCACAAGAGC	0.448													21	153					6.44725e-10	7.84582e-10	1	1	0	A	140969286	C	A	140969286	3	1	81	1	0	0	0	0	1	0	0	0	9232	913	32	4	627	4	MAGEC3	23	140969286	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1382654	140969286	14301274	15500	19116											
MAGEC3	139081	broad.mit.edu	37	X	140983167	140983167	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:140983167G>A	ENST00000298296.1	+	5	1022	c.1022G>A	c.(1021-1023)aGc>aAc	p.S341N	MAGEC3_ENST00000544766.1_5'UTR|MAGEC3_ENST00000483584.1_3'UTR|MAGEC3_ENST00000448920.1_Missense_Mutation_p.S93N|MAGEC3_ENST00000443323.2_Intron|MAGEC3_ENST00000536088.1_Intron	NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	341	MAGE 1.									NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					GCAGAGGGAAGCGTCTTAGAC	0.582													43	75					0	0	1	0	0	A	140983167	G	A	140983167	3	1	81	1	0	0	0	0	1	0	0	0	9232	971	34	2	1040	2	MAGEC3	23	140983167	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	13881	140983167	14287393	15501	19117											
MAGEC3	139081	broad.mit.edu	37	X	140984681	140984681	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:140984681G>A	ENST00000298296.1	+	7	1137	c.1137G>A	c.(1135-1137)atG>atA	p.M379I	MAGEC3_ENST00000544766.1_Missense_Mutation_p.M81I|MAGEC3_ENST00000483584.1_3'UTR|MAGEC3_ENST00000409007.1_Missense_Mutation_p.M81I|MAGEC3_ENST00000443323.2_Start_Codon_SNP_p.M1I|MAGEC3_ENST00000536088.1_Missense_Mutation_p.M81I	NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	379	MAGE 1.									NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					ATGAGGATATGCCTGCTGCTG	0.567													3	2					0	0	1	0	0	A	140984681	G	A	140984681	3	1	81	1	0	0	0	0	1	0	0	0	9232	1319	46	2	1392	2	MAGEC3	23	140984681	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1514	140984681	14285879	15502	19118											
MAGEC1	9947	broad.mit.edu	37	X	140994996	140994996	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:140994996G>T	ENST00000285879.4	+	4	2092	c.1806G>T	c.(1804-1806)ggG>ggT	p.G602G	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	602							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					CTCCTCAGGGGGAGGACTCCA	0.582										HNSCC(15;0.026)			158	233					5.91039e-102	7.97025e-102	1	1	0	T	140994996	G	T	140994996	2	4	81	1	0	0	0	0	0	0	0	1	9230	1219	43	5		5	MAGEC1	23	140994996	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	10315	140994996	14275564	15503	19119											
MAGEC2	51438	broad.mit.edu	37	X	141291666	141291666	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:141291666C>A	ENST00000247452.3	-	3	455	c.108G>T	c.(106-108)gaG>gaT	p.E36D		NM_016249.3	NP_057333.1	Q9UBF1	MAGC2_HUMAN	melanoma antigen family C, 2	36	Poly-Glu.					cytoplasm|nucleus				NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47	Acute lymphoblastic leukemia(192;6.56e-05)					AGGCTTCCTCCTCTTCCTCAT	0.527										HNSCC(46;0.14)			70	107					8.27458e-37	1.10907e-36	1	1	0	A	141291666	C	A	141291666	3	1	81	1	0	0	0	0	1	0	0	0	9231	680	24	4	1017	4	MAGEC2	23	141291666	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	296670	141291666	13978894	15504	19120											
SPANXN1	494118	broad.mit.edu	37	X	144337285	144337285	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:144337285G>T	ENST00000370493.3	+	2	929	c.170G>T	c.(169-171)aGg>aTg	p.R57M		NM_001009614.2	NP_001009614.1	Q5VSR9	SPXN1_HUMAN	SPANX family, member N1	57								p.R57M(2)		endometrium(2)|kidney(2)|lung(8)|prostate(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(192;6.56e-05)					TTTTGCTACAGGAAAGCTAAG	0.438													32	62					1.74807e-11	2.16744e-11	1	1	0	T	144337285	G	T	144337285	3	4	81	1	0	0	0	0	1	0	0	0	15046	1000	35	4	176	4	SPANXN1	23	144337285	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	3045619	144337285	10933275	15505	19121											
FMR1	2332	broad.mit.edu	37	X	147013976	147013976	+	Silent	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:147013976A>G	ENST00000218200.8	+	8	892	c.663A>G	c.(661-663)gaA>gaG	p.E221E	FMR1_ENST00000440235.2_5'UTR|FMR1_ENST00000370471.3_Silent_p.E221E|FMR1_ENST00000439526.2_Silent_p.E221E|FMR1_ENST00000334557.6_Silent_p.E221E|FMR1_ENST00000370470.1_Silent_p.E221E|FMR1_ENST00000370477.1_Silent_p.E221E|FMR1_ENST00000370475.4_Silent_p.E221E	NM_001185076.1|NM_001185082.1	NP_001172005.1|NP_001172011.1	Q06787	FMR1_HUMAN	fragile X mental retardation 1	221					mRNA transport|negative regulation of translational initiation	cytoplasm|mRNA cap binding complex|nucleolus|nucleoplasm|soluble fraction	mRNA binding|protein binding			NS(1)|breast(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	35	Acute lymphoblastic leukemia(192;6.56e-05)					GATTTCATGAACAGTTTATCG	0.418									Fragile X syndrome				48	84					0	0	1	0	0	G	147013976	A	G	147013976	2	3	81	1	0	0	0	0	0	0	0	1	5993	40	2	3		3	FMR1	23	147013976	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	2676691	147013976	8256584	15506	19122											
FMR1	2332	broad.mit.edu	37	X	147014219	147014219	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:147014219delA	ENST00000218200.8	+	9	1046	c.817delA	c.(817-819)aaafs	p.K274fs	FMR1_ENST00000439526.2_Frame_Shift_Del_p.K274fs|FMR1_ENST00000370471.3_Frame_Shift_Del_p.K274fs|FMR1_ENST00000370470.1_Frame_Shift_Del_p.K274fs|FMR1_ENST00000370477.1_Frame_Shift_Del_p.K274fs|FMR1_ENST00000440235.2_5'UTR|FMR1_ENST00000334557.6_Frame_Shift_Del_p.K274fs|FMR1_ENST00000370475.4_Frame_Shift_Del_p.K274fs	NM_001185076.1|NM_001185082.1	NP_001172005.1|NP_001172011.1	Q06787	FMR1_HUMAN	fragile X mental retardation 1	274					mRNA transport|negative regulation of translational initiation	cytoplasm|mRNA cap binding complex|nucleolus|nucleoplasm|soluble fraction	mRNA binding|protein binding			NS(1)|breast(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	35	Acute lymphoblastic leukemia(192;6.56e-05)					GGATGCAGTGAAAAAAGCTAG	0.333									Fragile X syndrome				15	161	---	---	---	---						-	147014219	A	-	147014219	7	5	81	1	0	1	0	1	0	0	0	0	5993	247	9	0	851	0	FMR1	23	147014219	Frame_Shift_Del	DEL	A	TCGA-DU-6392-01A-11D-1705-08	243	147014219	8256341	15507	19123											
FMR1	2332	broad.mit.edu	37	X	147024789	147024789	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:147024789G>T	ENST00000218200.8	+	13	1580	c.1351G>T	c.(1351-1353)Ggt>Tgt	p.G451C	FMR1_ENST00000440235.2_Missense_Mutation_p.G119C|FMR1_ENST00000370471.3_Intron|FMR1_ENST00000439526.2_Missense_Mutation_p.G449C|FMR1_ENST00000370470.1_Missense_Mutation_p.G472C|FMR1_ENST00000370477.1_Missense_Mutation_p.G451C|FMR1_ENST00000370475.4_Missense_Mutation_p.G472C|FMR1_ENST00000492846.1_3'UTR	NM_001185076.1|NM_001185082.1	NP_001172005.1|NP_001172011.1	Q06787	FMR1_HUMAN	fragile X mental retardation 1	472	Interaction with RANBP9.				mRNA transport|negative regulation of translational initiation	cytoplasm|mRNA cap binding complex|nucleolus|nucleoplasm|soluble fraction	mRNA binding|protein binding			NS(1)|breast(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	35	Acute lymphoblastic leukemia(192;6.56e-05)					AATGGGTCGAGGTAGTAGACC	0.448									Fragile X syndrome				6	124					0.00116845	0.00124301	1	1	0	T	147024789	G	T	147024789	3	4	81	1	0	0	0	0	1	0	0	0	5993	1000	35	4	1468	4	FMR1	23	147024789	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	10570	147024789	8245771	15508	19124											
FMR1	2332	broad.mit.edu	37	X	147026457	147026457	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:147026457T>C	ENST00000218200.8	+	14	1706	c.1477T>C	c.(1477-1479)Tca>Cca	p.S493P	FMR1_ENST00000440235.2_Missense_Mutation_p.S161P|FMR1_ENST00000370471.3_Intron|FMR1_ENST00000439526.2_Missense_Mutation_p.S491P|FMR1_ENST00000370470.1_Intron|FMR1_ENST00000370477.1_Missense_Mutation_p.S481P|FMR1_ENST00000370475.4_Missense_Mutation_p.S514P	NM_001185076.1|NM_001185082.1	NP_001172005.1|NP_001172011.1	Q06787	FMR1_HUMAN	fragile X mental retardation 1	514	Interaction with RANBP9.				mRNA transport|negative regulation of translational initiation	cytoplasm|mRNA cap binding complex|nucleolus|nucleoplasm|soluble fraction	mRNA binding|protein binding			NS(1)|breast(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	35	Acute lymphoblastic leukemia(192;6.56e-05)					CAGTGATTGGTCATTAGCTCC	0.498									Fragile X syndrome				16	12					0	0	1	0	0	C	147026457	T	C	147026457	3	2	81	1	0	0	0	0	1	0	0	0	5993	1667	58	3	1598	3	FMR1	23	147026457	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	1668	147026457	8244103	15509	19125											
FMR1NB	158521	broad.mit.edu	37	X	147084731	147084731	+	Nonsense_Mutation	SNP	T	T	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:147084731T>A	ENST00000370467.3	+	2	362	c.288T>A	c.(286-288)taT>taA	p.Y96*		NM_152578.2	NP_689791.1	Q8N0W7	FMR1N_HUMAN	fragile X mental retardation 1 neighbor	96						integral to membrane				breast(2)|cervix(1)|endometrium(3)|large_intestine(7)|lung(10)|ovary(1)|skin(1)	25	Acute lymphoblastic leukemia(192;6.56e-05)					GGTCCTCATATTTTGTGCTTG	0.353													58	125					0	0	1	0	0	A	147084731	T	A	147084731	4	1	81	1	0	0	0	0	0	1	0	0	5994	1500	52	4	294	4	FMR1NB	23	147084731	Nonsense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	58274	147084731	8185829	15510	19126											
FMR1NB	158521	broad.mit.edu	37	X	147088322	147088322	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:147088322G>A	ENST00000370467.3	+	3	572	c.498G>A	c.(496-498)tcG>tcA	p.S166S		NM_152578.2	NP_689791.1	Q8N0W7	FMR1N_HUMAN	fragile X mental retardation 1 neighbor	166	P-type.					integral to membrane				breast(2)|cervix(1)|endometrium(3)|large_intestine(7)|lung(10)|ovary(1)|skin(1)	25	Acute lymphoblastic leukemia(192;6.56e-05)					TTTCATCATCGGGGACCACGA	0.368													14	129					0	0	1	0	0	A	147088322	G	A	147088322	2	1	81	1	0	0	0	0	0	0	0	1	5994	1103	39	1		1	FMR1NB	23	147088322	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	3591	147088322	8182238	15511	19127											
AFF2	2334	broad.mit.edu	37	X	148035176	148035176	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:148035176C>T	ENST00000370460.2	+	10	1943	c.1464C>T	c.(1462-1464)agC>agT	p.S488S	AFF2_ENST00000286437.5_Silent_p.S129S|AFF2_ENST00000342251.3_Silent_p.S455S|AFF2_ENST00000370457.5_Silent_p.S455S	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	488					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					GCAGCTCCAGCGAATCGGAGA	0.552													51	75					0	0	1	0	0	T	148035176	C	T	148035176	2	4	81	1	0	0	0	0	0	0	0	1	356	767	27	1		1	AFF2	23	148035176	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	946854	148035176	7235384	15512	19128											
AFF2	2334	broad.mit.edu	37	X	148037455	148037455	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:148037455G>A	ENST00000370460.2	+	11	2359	c.1880G>A	c.(1879-1881)gGg>gAg	p.G627E	AFF2_ENST00000286437.5_Missense_Mutation_p.G268E|AFF2_ENST00000342251.3_Missense_Mutation_p.G594E|AFF2_ENST00000370457.5_Missense_Mutation_p.G594E	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	627					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					AGGACAATTGGGAAAAAACAG	0.438													7	145					0	0	1	0	0	A	148037455	G	A	148037455	3	1	81	1	0	0	0	0	1	0	0	0	356	1232	43	2	1977	2	AFF2	23	148037455	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2279	148037455	7233105	15513	19129											
AFF2	2334	broad.mit.edu	37	X	148037907	148037907	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:148037907T>G	ENST00000370460.2	+	11	2811	c.2332T>G	c.(2332-2334)Ttt>Gtt	p.F778V	AFF2_ENST00000286437.5_Missense_Mutation_p.F419V|AFF2_ENST00000342251.3_Missense_Mutation_p.F745V|AFF2_ENST00000370457.5_Missense_Mutation_p.F745V	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	778					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					AGAGCCAACATTTTCACCTAT	0.458													5	75					0	0	1	0	0	G	148037907	T	G	148037907	3	3	81	1	0	0	0	0	1	0	0	0	356	1493	52	4	2429	4	AFF2	23	148037907	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	452	148037907	7232653	15514	19130											
IDS	3423	broad.mit.edu	37	X	148585691	148585691	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:148585691G>A	ENST00000340855.6	-	2	445	c.236C>T	c.(235-237)gCg>gTg	p.A79V	IDS_ENST00000541269.1_Intron|IDS_ENST00000422081.2_Intron|IDS_ENST00000428056.2_Missense_Mutation_p.A79V|IDS_ENST00000427113.2_Intron|IDS_ENST00000370441.4_Missense_Mutation_p.A79V|IDS_ENST00000370443.4_Missense_Mutation_p.A79V	NM_000202.5|NM_001166550.1	NP_000193.1|NP_001160022.1	P22304	IDS_HUMAN	iduronate 2-sulfatase	79			A -> E (in MPS2; mild form).			lysosome	iduronate-2-sulfatase activity|metal ion binding			NS(1)|breast(3)|endometrium(5)|large_intestine(2)|lung(8)|prostate(1)	20	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					ACATACCTGCGCAAAGGCATT	0.572													10	10					0	0	1	0	0	A	148585691	G	A	148585691	3	1	81	1	0	0	0	0	1	0	0	0	7547	1087	38	1	1478	1	IDS	23	148585691	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	547784	148585691	6684869	15515	19131											
MAGEA11	4110	broad.mit.edu	37	X	148797686	148797686	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:148797686C>A	ENST00000355220.5	+	5	642	c.540C>A	c.(538-540)ttC>ttA	p.F180L	MAGEA11_ENST00000333104.4_Missense_Mutation_p.F151L	NM_005366.4	NP_005357.2	P43364	MAGAB_HUMAN	melanoma antigen family A, 11	180						cytoplasm|nucleus	protein binding			cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	9	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					AAGAGTCCTTCTCTCCCACTG	0.562													18	43					3.52763e-06	4.02143e-06	1	1	0	A	148797686	C	A	148797686	3	1	81	1	0	0	0	0	1	0	0	0	9211	912	32	4	567	4	MAGEA11	23	148797686	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	211995	148797686	6472874	15516	19132											
MAGEA11	4110	broad.mit.edu	37	X	148798334	148798334	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:148798334G>T	ENST00000355220.5	+	5	1290	c.1188G>T	c.(1186-1188)aaG>aaT	p.K396N	MAGEA11_ENST00000333104.4_Missense_Mutation_p.K367N	NM_005366.4	NP_005357.2	P43364	MAGAB_HUMAN	melanoma antigen family A, 11	396	MAGE.					cytoplasm|nucleus	protein binding			cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	9	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					AGACCAGCAAGATGAAAGTTC	0.547													9	204					3.09899e-07	3.60815e-07	1	1	0	T	148798334	G	T	148798334	3	4	81	1	0	0	0	0	1	0	0	0	9211	933	33	4	1215	4	MAGEA11	23	148798334	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	648	148798334	6472226	15517	19133											
MAMLD1	10046	broad.mit.edu	37	X	149639226	149639226	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:149639226G>A	ENST00000370401.2	+	4	1691	c.1381G>A	c.(1381-1383)Gag>Aag	p.E461K	MAMLD1_ENST00000262858.5_Missense_Mutation_p.E461K|MAMLD1_ENST00000432680.2_Missense_Mutation_p.E436K|MAMLD1_ENST00000426613.2_Missense_Mutation_p.E436K			Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	461					male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		p.E461Q(1)|p.E436Q(1)|p.E388Q(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37	Acute lymphoblastic leukemia(192;6.56e-05)					CTATCGCCCAGAGAAGCTCTC	0.572													31	80					0	0	1	0	0	A	149639226	G	A	149639226	3	1	81	1	0	0	0	0	1	0	0	0	9258	943	33	2	1391	2	MAMLD1	23	149639226	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	840892	149639226	5631334	15518	19134											
MAMLD1	10046	broad.mit.edu	37	X	149671607	149671607	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:149671607C>T	ENST00000370401.2	+	6	2414	c.2104C>T	c.(2104-2106)Cag>Tag	p.Q702*	MAMLD1_ENST00000262858.5_Nonsense_Mutation_p.Q702*|MAMLD1_ENST00000455522.2_Nonsense_Mutation_p.Q142*|MAMLD1_ENST00000432680.2_Intron|MAMLD1_ENST00000426613.2_Nonsense_Mutation_p.Q677*			Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	702					male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37	Acute lymphoblastic leukemia(192;6.56e-05)					CCTCGGGCGACAGCCCCCGTC	0.612													12	162					0	0	1	0	0	T	149671607	C	T	149671607	4	4	81	1	0	0	0	0	0	1	0	0	9258	479	17	2	2122	2	MAMLD1	23	149671607	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	32381	149671607	5598953	15519	19135											
MTM1	4534	broad.mit.edu	37	X	149809827	149809827	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:149809827C>T	ENST00000370396.2	+	8	668	c.614C>T	c.(613-615)cCg>cTg	p.P205L	MTM1_ENST00000542741.1_Missense_Mutation_p.P110L|MTM1_ENST00000543350.1_Missense_Mutation_p.P90L|MTM1_ENST00000306167.7_3'UTR|MTM1_ENST00000413012.2_Missense_Mutation_p.P168L	NM_000252.2	NP_000243.1	Q13496	MTM1_HUMAN	myotubularin 1	205	Myotubularin phosphatase.		P -> L (in XCNM; severe; dramatic decrease in phosphatase activity; abolishes interaction with DES).		endosome to lysosome transport|intermediate filament organization|mitochondrion distribution|mitochondrion morphogenesis|phosphatidylinositol dephosphorylation|protein transport|regulation of vacuole organization	filopodium|late endosome|plasma membrane|ruffle	intermediate filament binding|phosphatidylinositol binding|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Acute lymphoblastic leukemia(192;6.56e-05)					TTGGTGGTTCCGTATCGTGCC	0.438													46	80					0	0	1	0	0	T	149809827	C	T	149809827	3	4	81	1	0	0	0	0	1	0	0	0	9985	652	23	1	640	1	MTM1	23	149809827	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	138220	149809827	5460733	15520	19136											
MTMR1	8776	broad.mit.edu	37	X	149905115	149905115	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:149905115C>T	ENST00000445323.2	+	11	1250	c.1129C>T	c.(1129-1131)Ctt>Ttt	p.L377F	MTMR1_ENST00000451863.2_Missense_Mutation_p.L369F|MTMR1_ENST00000541925.1_Missense_Mutation_p.L275F|MTMR1_ENST00000370390.3_Missense_Mutation_p.L369F|MTMR1_ENST00000544228.1_Missense_Mutation_p.L369F|MTMR1_ENST00000538506.1_Intron			Q13613	MTMR1_HUMAN	myotubularin related protein 1	369	Myotubularin phosphatase.|Substrate binding (By similarity).					plasma membrane	protein tyrosine phosphatase activity			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					AAATGCAGAACTTGTGTTCTT	0.403													35	78					0	0	1	0	0	T	149905115	C	T	149905115	3	4	81	1	0	0	0	0	1	0	0	0	9986	565	20	2	1143	2	MTMR1	23	149905115	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	95288	149905115	5365445	15521	19137											
MTMR1	8776	broad.mit.edu	37	X	149905195	149905195	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:149905195C>T	ENST00000445323.2	+	11	1330	c.1209C>T	c.(1207-1209)atC>atT	p.I403I	MTMR1_ENST00000451863.2_Silent_p.I395I|MTMR1_ENST00000541925.1_Silent_p.I301I|MTMR1_ENST00000370390.3_Silent_p.I395I|MTMR1_ENST00000544228.1_Silent_p.I395I|MTMR1_ENST00000538506.1_Intron			Q13613	MTMR1_HUMAN	myotubularin related protein 1	395	Myotubularin phosphatase.					plasma membrane	protein tyrosine phosphatase activity			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					ACCCTTCGATCGATGAGGCGC	0.448													27	45					0	0	1	0	0	T	149905195	C	T	149905195	2	4	81	1	0	0	0	0	0	0	0	1	9986	874	31	1		1	MTMR1	23	149905195	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	80	149905195	5365365	15522	19138											
CD99L2	83692	broad.mit.edu	37	X	149945940	149945940	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:149945940C>A	ENST00000370377.3	-	8	629	c.512G>T	c.(511-513)gGc>gTc	p.G171V	CD99L2_ENST00000346693.4_5'UTR|CD99L2_ENST00000437787.2_Missense_Mutation_p.G98V|CD99L2_ENST00000466436.1_Missense_Mutation_p.G122V|CD99L2_ENST00000355149.3_Missense_Mutation_p.G99V	NM_001242614.1|NM_031462.3	NP_001229543.1|NP_113650.2	Q8TCZ2	C99L2_HUMAN	CD99 molecule-like 2	171					cell adhesion	cell junction|integral to membrane				endometrium(4)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					GTCATTGCTGCCGTACCGGCC	0.557													26	41					4.87955e-14	6.177e-14	1	1	0	A	149945940	C	A	149945940	3	1	81	1	0	0	0	0	1	0	0	0	3073	739	26	5	292	5	CD99L2	23	149945940	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	40745	149945940	5324620	15523	19139											
CD99L2	83692	broad.mit.edu	37	X	149963702	149963702	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:149963702C>A	ENST00000370377.3	-	6	524	c.407G>T	c.(406-408)aGg>aTg	p.R136M	CD99L2_ENST00000466436.1_Missense_Mutation_p.R87M|CD99L2_ENST00000437787.2_Intron|CD99L2_ENST00000346693.4_5'UTR|CD99L2_ENST00000355149.3_Missense_Mutation_p.R64M	NM_001242614.1|NM_031462.3	NP_001229543.1|NP_113650.2	Q8TCZ2	C99L2_HUMAN	CD99 molecule-like 2	136					cell adhesion	cell junction|integral to membrane				endometrium(4)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					AATTGGTTTCCTGCGGCCATC	0.478													10	190					3.86212e-05	4.27865e-05	1	1	0	A	149963702	C	A	149963702	3	1	81	1	0	0	0	0	1	0	0	0	3073	681	24	4	405	4	CD99L2	23	149963702	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	17762	149963702	5306858	15524	19140	97	2									
CD99L2	83692	broad.mit.edu	37	X	149963705	149963705	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:149963705C>T	ENST00000370377.3	-	6	521	c.404G>A	c.(403-405)cGc>cAc	p.R135H	CD99L2_ENST00000466436.1_Missense_Mutation_p.R86H|CD99L2_ENST00000437787.2_Intron|CD99L2_ENST00000346693.4_5'UTR|CD99L2_ENST00000355149.3_Missense_Mutation_p.R63H	NM_001242614.1|NM_031462.3	NP_001229543.1|NP_113650.2	Q8TCZ2	C99L2_HUMAN	CD99 molecule-like 2	135					cell adhesion	cell junction|integral to membrane				endometrium(4)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					TGGTTTCCTGCGGCCATCATC	0.478													61	135					0	0	1	0	0	T	149963705	C	T	149963705	3	4	81	1	0	0	0	0	1	0	0	0	3073	768	27	1	408	1	CD99L2	23	149963705	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3	149963705	5306855	15525	19141	97	2									
HMGB3	3149	broad.mit.edu	37	X	150154607	150154607	+	Silent	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:150154607T>C	ENST00000325307.7	+	3	330	c.234T>C	c.(232-234)taT>taC	p.Y78Y	HMGB3_ENST00000448905.2_Silent_p.Y78Y	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN	high mobility group box 3	78					DNA recombination|multicellular organismal development	chromosome|nucleus	DNA bending activity|double-stranded DNA binding			endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8	Acute lymphoblastic leukemia(192;6.56e-05)					TGAAGGATTATGGACCAGCTA	0.413													6	35					0	0	1	0	0	C	150154607	T	C	150154607	2	2	81	1	0	0	0	0	0	0	0	1	7268	1471	51	3		3	HMGB3	23	150154607	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	190902	150154607	5115953	15526	19142											
VMA21	203547	broad.mit.edu	37	X	150572153	150572153	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:150572153C>A	ENST00000330374.6	+	2	209	c.104C>A	c.(103-105)gCt>gAt	p.A35D	VMA21_ENST00000370361.1_Missense_Mutation_p.A90D|VMA21_ENST00000477649.1_3'UTR	NM_001017980.3	NP_001017980.1	Q3ZAQ7	VMA21_HUMAN	VMA21 vacuolar H+-ATPase homolog (S. cerevisiae)	35					vacuolar proton-transporting V-type ATPase complex assembly	COPII vesicle coat|endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|integral to membrane|lysosome				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)	7						TTCTTCACAGCTTTAATGATC	0.348													106	191					2.11273e-47	2.84313e-47	1	1	0	A	150572153	C	A	150572153	3	1	81	1	0	0	0	0	1	0	0	0	17235	797	28	4	110	4	VMA21	23	150572153	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	417546	150572153	4698407	15527	19143											
CNGA2	1260	broad.mit.edu	37	X	150912736	150912736	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:150912736C>T	ENST00000329903.4	+	6	1794	c.1761C>T	c.(1759-1761)aaC>aaT	p.N587N		NM_005140.1	NP_005131.1	Q16280	CNGA2_HUMAN	cyclic nucleotide gated channel alpha 2	587					response to stimulus|sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2)	49	Acute lymphoblastic leukemia(192;6.56e-05)					TGGATGAGAACGAAGTGGCAA	0.547													67	104					0	0	1	0	0	T	150912736	C	T	150912736	2	4	81	1	0	0	0	0	0	0	0	1	3620	535	19	1		1	CNGA2	23	150912736	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	340583	150912736	4357824	15528	19144											
MAGEA4	4103	broad.mit.edu	37	X	151092394	151092394	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:151092394G>T	ENST00000370335.1	+	3	525	c.258G>T	c.(256-258)gaG>gaT	p.E86D	MAGEA4_ENST00000393920.1_Missense_Mutation_p.E86D|MAGEA4_ENST00000276344.2_Missense_Mutation_p.E86D|MAGEA4_ENST00000370340.3_Missense_Mutation_p.E86D|MAGEA4_ENST00000393921.1_Missense_Mutation_p.E86D|MAGEA4_ENST00000370337.4_Missense_Mutation_p.E86D|MAGEA4_ENST00000360243.2_Missense_Mutation_p.E86D			P43358	MAGA4_HUMAN	melanoma antigen family A, 4	86							protein binding			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)	27	Acute lymphoblastic leukemia(192;6.56e-05)					AACCCAATGAGGGTTCCAGCA	0.572													5	75					5.9392e-07	6.87481e-07	1	1	0	T	151092394	G	T	151092394	3	4	81	1	0	0	0	0	1	0	0	0	9216	991	35	4	260	4	MAGEA4	23	151092394	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	179658	151092394	4178166	15529	19145											
MAGEA4	4103	broad.mit.edu	37	X	151092966	151092966	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:151092966G>T	ENST00000370335.1	+	3	1097	c.830G>T	c.(829-831)aGg>aTg	p.R277M	MAGEA4_ENST00000393920.1_Missense_Mutation_p.R277M|MAGEA4_ENST00000276344.2_Missense_Mutation_p.R277M|MAGEA4_ENST00000370340.3_Missense_Mutation_p.R277M|MAGEA4_ENST00000393921.1_Missense_Mutation_p.R277M|MAGEA4_ENST00000370337.4_Missense_Mutation_p.R277M|MAGEA4_ENST00000360243.2_Missense_Mutation_p.R277M			P43358	MAGA4_HUMAN	melanoma antigen family A, 4	277	MAGE.						protein binding			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)	27	Acute lymphoblastic leukemia(192;6.56e-05)					TGGGGTCCAAGGGCTCTGGCT	0.552													15	159					0.000219431	0.000239308	1	1	0	T	151092966	G	T	151092966	3	4	81	1	0	0	0	0	1	0	0	0	9216	1000	35	4	832	4	MAGEA4	23	151092966	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	572	151092966	4177594	15530	19146											
GABRE	2564	broad.mit.edu	37	X	151138183	151138183	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:151138183C>A	ENST00000370325.1	-	3	353	c.300G>T	c.(298-300)gaG>gaT	p.E100D	GABRE_ENST00000393914.3_5'UTR|GABRE_ENST00000370328.3_Missense_Mutation_p.E100D			P78334	GBRE_HUMAN	gamma-aminobutyric acid (GABA) A receptor, epsilon	100					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					TGACGGAGATCTCAACAGTGA	0.522													21	34					3.62473e-10	4.42231e-10	1	1	0	A	151138183	C	A	151138183	3	1	81	1	0	0	0	0	1	0	0	0	6205	912	32	4	1248	4	GABRE	23	151138183	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	45217	151138183	4132377	15531	19147											
MAGEA5	4104	broad.mit.edu	37	X	151284076	151284076	+	RNA	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:151284076G>A	ENST00000509345.2	-	0	260																											AGACCCACTGGCCTGGAGAGA	0.542													33	57					0	0	1	0	0	A	151284076	G	A	151284076	1	1	81	0	1	0	0	0	0	0	0	0	9217	1217	42	2		2	MAGEA5	23	151284076	RNA	SNP	G	TCGA-DU-6392-01A-11D-1705-08	145893	151284076	3986484	15532	19148											
GABRA3	2556	broad.mit.edu	37	X	151424261	151424261	+	Silent	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:151424261G>T	ENST00000370314.4	-	5	778	c.540C>A	c.(538-540)ctC>ctA	p.L180L	GABRA3_ENST00000535043.1_Silent_p.L180L	NM_000808.3	NP_000799.1	P34903	GBRA3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 3	180				L -> P (in Ref. 3; AAH28629).	gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding	p.L180L(1)|p.L70L(1)		breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(6)	37	Acute lymphoblastic leukemia(192;6.56e-05)				Alprazolam(DB00404)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TCATTGTATAGAGGAGGGTTC	0.478													9	107					2.80697e-09	3.37799e-09	1	1	0	T	151424261	G	T	151424261	2	4	81	1	0	0	0	0	0	0	0	1	6197	929	33	4		4	GABRA3	23	151424261	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	140185	151424261	3846299	15533	19149											
GABRQ	55879	broad.mit.edu	37	X	151806759	151806759	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:151806759G>A	ENST00000370306.2	+	1	123	c.103G>A	c.(103-105)Gag>Aag	p.E35K		NM_018558.2	NP_061028.3	Q9UN88	GBRT_HUMAN	gamma-aminobutyric acid (GABA) A receptor, theta	35						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|neurotransmitter transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	52	Acute lymphoblastic leukemia(192;6.56e-05)					ATTCCACTTCGAGTTCTCCTC	0.637													10	58					0	0	1	0	0	A	151806759	G	A	151806759	3	1	81	1	0	0	0	0	1	0	0	0	6210	1059	37	1	105	1	GABRQ	23	151806759	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	382498	151806759	3463801	15534	19150											
MAGEA6	4105	broad.mit.edu	37	X	151870016	151870016	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:151870016G>T	ENST00000329342.5	+	3	931	c.706G>T	c.(706-708)Gac>Tac	p.D236Y		NM_005363.2	NP_005354.1	P43360	MAGA6_HUMAN	melanoma antigen family A, 6	236	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)					GGGGAGGGAAGACAGTATCTT	0.532													18	190					6.94344e-10	8.44171e-10	1	1	0	T	151870016	G	T	151870016	3	4	81	1	0	0	0	0	1	0	0	0	9218	942	33	4	708	4	MAGEA6	23	151870016	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	63257	151870016	3400544	15535	19151											
MAGEA3	4102	broad.mit.edu	37	X	151935890	151935890	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:151935890C>A	ENST00000393902.3	-	3	844	c.277G>T	c.(277-279)Gag>Tag	p.E93*	MAGEA3_ENST00000370278.3_Nonsense_Mutation_p.E93*			P43357	MAGA3_HUMAN	melanoma antigen family A, 3	93										endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)	15	Acute lymphoblastic leukemia(192;6.56e-05)					CTTGGCCCCTCCTCTTCTTGG	0.567													6	83					2.0095e-06	2.30238e-06	1	1	0	A	151935890	C	A	151935890	4	1	81	1	0	0	0	0	0	1	0	0	9215	864	30	5	671	5	MAGEA3	23	151935890	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	65874	151935890	3334670	15536	19152											
ZNF185	7739	broad.mit.edu	37	X	152135744	152135744	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:152135744G>T	ENST00000535861.1	+	21	1974	c.1926G>T	c.(1924-1926)gaG>gaT	p.E642D	ZNF185_ENST00000318504.7_Missense_Mutation_p.E551D|ZNF185_ENST00000318529.8_Missense_Mutation_p.E389D|ZNF185_ENST00000324823.6_Missense_Mutation_p.E378D|ZNF185_ENST00000539731.1_Missense_Mutation_p.E613D|ZNF185_ENST00000449285.2_Missense_Mutation_p.E611D|ZNF185_ENST00000454925.1_Missense_Mutation_p.E248D|ZNF185_ENST00000370270.2_Missense_Mutation_p.E642D|ZNF185_ENST00000370268.4_Missense_Mutation_p.E610D	NM_001178106.1	NP_001171577.1	O15231	ZN185_HUMAN	zinc finger protein 185 (LIM domain)	610	LIM zinc-binding.					cytoplasm|cytoskeleton|focal adhesion	zinc ion binding			NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(3)	12	Acute lymphoblastic leukemia(192;6.56e-05)					TCGCCATGGAGAAGAAGCCTC	0.493													5	71					0.000602214	0.000646338	1	1	0	T	152135744	G	T	152135744	3	4	81	1	0	0	0	0	1	0	0	0	17810	933	33	4	2152	4	ZNF185	23	152135744	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	199854	152135744	3134816	15537	19153											
PNMA5	114824	broad.mit.edu	37	X	152159087	152159087	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:152159087G>A	ENST00000439251.1	-	2	1494	c.1056C>T	c.(1054-1056)tcC>tcT	p.S352S	PNMA5_ENST00000535214.1_Silent_p.S352S|PNMA5_ENST00000452693.1_Silent_p.S352S|PNMA5_ENST00000361887.5_Silent_p.S352S	NM_001103150.1	NP_001096620.1	Q96PV4	PNMA5_HUMAN	paraneoplastic Ma antigen family member 5	352					apoptosis					breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	Acute lymphoblastic leukemia(192;6.56e-05)					CCTGTCTACCGGAGGCCCCCC	0.562													33	43					0	0	1	0	0	A	152159087	G	A	152159087	2	1	81	1	0	0	0	0	0	0	0	1	12204	1103	39	1		1	PNMA5	23	152159087	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	23343	152159087	3111473	15538	19154											
PNMA5	114824	broad.mit.edu	37	X	152159206	152159206	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:152159206C>A	ENST00000439251.1	-	2	1375	c.937G>T	c.(937-939)Ggg>Tgg	p.G313W	PNMA5_ENST00000535214.1_Missense_Mutation_p.G313W|PNMA5_ENST00000452693.1_Missense_Mutation_p.G313W|PNMA5_ENST00000361887.5_Missense_Mutation_p.G313W	NM_001103150.1	NP_001096620.1	Q96PV4	PNMA5_HUMAN	paraneoplastic Ma antigen family member 5	313					apoptosis					breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	Acute lymphoblastic leukemia(192;6.56e-05)					GGAGGACACCCTCGCTGATCC	0.527													28	52					2.12542e-12	2.65769e-12	1	1	0	A	152159206	C	A	152159206	3	1	81	1	0	0	0	0	1	0	0	0	12204	681	24	4	413	4	PNMA5	23	152159206	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	119	152159206	3111354	15539	19155											
PNMA5	114824	broad.mit.edu	37	X	152159756	152159756	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:152159756G>A	ENST00000439251.1	-	2	825	c.387C>T	c.(385-387)ctC>ctT	p.L129L	PNMA5_ENST00000535214.1_Silent_p.L129L|PNMA5_ENST00000452693.1_Silent_p.L129L|PNMA5_ENST00000361887.5_Silent_p.L129L	NM_001103150.1	NP_001096620.1	Q96PV4	PNMA5_HUMAN	paraneoplastic Ma antigen family member 5	129					apoptosis					breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	Acute lymphoblastic leukemia(192;6.56e-05)					tctcggcagggaggctgcaac	0.502													17	247					0	0	1	0	0	A	152159756	G	A	152159756	2	1	81	1	0	0	0	0	0	0	0	1	12204	1161	41	2		2	PNMA5	23	152159756	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	550	152159756	3110804	15540	19156											
PNMA3	29944	broad.mit.edu	37	X	152226090	152226090	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:152226090C>A	ENST00000447306.1	+	2	1014	c.678C>A	c.(676-678)tcC>tcA	p.S226S	PNMA3_ENST00000370264.4_Silent_p.S226S|PNMA3_ENST00000370265.4_Silent_p.S226S	NM_013364.4	NP_037496.4	Q9UL41	PNMA3_HUMAN	paraneoplastic Ma antigen 3	226					apoptosis	nucleolus	nucleic acid binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	16	Acute lymphoblastic leukemia(192;6.56e-05)					gcaatgcttccataactgtgg	0.592													10	174					5.16669e-11	6.3748e-11	1	1	0	A	152226090	C	A	152226090	2	1	81	1	0	0	0	0	0	0	0	1	12203	581	21	5		5	PNMA3	23	152226090	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	66334	152226090	3044470	15541	19157											
PNMA3	29944	broad.mit.edu	37	X	152226235	152226235	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:152226235C>T	ENST00000447306.1	+	2	1159	c.823C>T	c.(823-825)Ctc>Ttc	p.L275F	PNMA3_ENST00000370264.4_Missense_Mutation_p.L275F|PNMA3_ENST00000370265.4_Missense_Mutation_p.L275F	NM_013364.4	NP_037496.4	Q9UL41	PNMA3_HUMAN	paraneoplastic Ma antigen 3	275					apoptosis	nucleolus	nucleic acid binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	16	Acute lymphoblastic leukemia(192;6.56e-05)					ggaacccctgctccaaagagc	0.478													49	82					0	0	1	0	0	T	152226235	C	T	152226235	3	4	81	1	0	0	0	0	1	0	0	0	12203	797	28	2	825	2	PNMA3	23	152226235	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	145	152226235	3044325	15542	19158											
ZNF275	10838	broad.mit.edu	37	X	152610162	152610162	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:152610162C>A	ENST00000440091.1	+	2	43	c.43C>A	c.(43-45)Ctc>Atc	p.L15I	ZNF275_ENST00000370249.2_5'UTR|ZNF275_ENST00000370251.3_Intron|ZNF275_ENST00000421401.3_Intron			A6NFS0	A6NFS0_HUMAN	zinc finger protein 275	0						intracellular	nucleic acid binding|zinc ion binding			endometrium(5)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	16	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GGCATGGTACCTCACCACAAG	0.502													7	137					0.0381472	0.0389402	1	1	0	A	152610162	C	A	152610162	3	1	81	1	0	0	0	0	1	0	0	0	17868	696	24	4		4	ZNF275	23	152610162	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	383927	152610162	2660398	15543	19159											
ZNF275	10838	broad.mit.edu	37	X	152612497	152612497	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:152612497G>A	ENST00000421401.3	+	4	531	c.354G>A	c.(352-354)caG>caA	p.Q118Q	ZNF275_ENST00000370249.2_Silent_p.Q65Q|ZNF275_ENST00000440091.1_Silent_p.Q148Q|ZNF275_ENST00000370251.3_Silent_p.Q118Q			A6NFS0	A6NFS0_HUMAN	zinc finger protein 275	118						intracellular	nucleic acid binding|zinc ion binding			endometrium(5)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	16	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TGCTTGTCCAGCACCAGAGAG	0.542													21	28					0	0	1	0	0	A	152612497	G	A	152612497	2	1	81	1	0	0	0	0	0	0	0	1	17868	962	34	2		2	ZNF275	23	152612497	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2335	152612497	2658063	15544	19160											
TREX2	11219	broad.mit.edu	37	X	152710594	152710594	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:152710594G>A	ENST00000330912.2	-	13	1845	c.295C>T	c.(295-297)Cgg>Tgg	p.R99W	TREX2_ENST00000338525.2_Missense_Mutation_p.R99W|TREX2_ENST00000393862.2_Missense_Mutation_p.R99W|TREX2_ENST00000414588.1_Missense_Mutation_p.R141W|TREX2_ENST00000370232.1_Missense_Mutation_p.R142W|TREX2_ENST00000370231.2_Missense_Mutation_p.R99W|TREX2_ENST00000334497.2_Missense_Mutation_p.R142W|TREX2_ENST00000402951.1_Missense_Mutation_p.R142W			Q9BQ50	TREX2_HUMAN	three prime repair exonuclease 2	142					DNA repair	nucleus	3'-5'-exodeoxyribonuclease activity|exodeoxyribonuclease III activity|nucleic acid binding			endometrium(4)|large_intestine(2)|lung(3)|ovary(2)	11	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TGCAGCGTCCGCACCACGGCG	0.667								Editing and processing nucleases					11	12					0	0	1	0	0	A	152710594	G	A	152710594	3	1	81	1	0	0	0	0	1	0	0	0	16538	1086	38	1	418	1	TREX2	23	152710594	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	98097	152710594	2559966	15545	19161											
BGN	633	broad.mit.edu	37	X	152770099	152770099	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:152770099C>A	ENST00000331595.4	+	2	196	c.10C>A	c.(10-12)Ctg>Atg	p.L4M	BGN_ENST00000480756.1_3'UTR	NM_001711.4	NP_001702.1	P21810	PGS1_HUMAN	biglycan	4						proteinaceous extracellular matrix|transport vesicle	extracellular matrix structural constituent			breast(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)	16	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CATGTGGCCCCTGTGGCGCCT	0.632													4	31					0.00024832	0.000269806	1	1	0	A	152770099	C	A	152770099	3	1	81	1	0	0	0	0	1	0	0	0	1417	680	24	4	12	4	BGN	23	152770099	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	59505	152770099	2500461	15546	19162											
ATP2B3	492	broad.mit.edu	37	X	152806914	152806914	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:152806914G>A	ENST00000370186.1	+	3	632	c.306G>A	c.(304-306)gtG>gtA	p.V102V	ATP2B3_ENST00000370181.2_Silent_p.V102V|ATP2B3_ENST00000349466.2_Silent_p.V102V|ATP2B3_ENST00000263519.4_Silent_p.V102V|ATP2B3_ENST00000393842.1_Silent_p.V102V|ATP2B3_ENST00000359149.3_Silent_p.V102V			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	102					ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TGCAGCTGGTGTGGGAGGCCC	0.612													17	37					0	0	1	0	0	A	152806914	G	A	152806914	2	1	81	1	0	0	0	0	0	0	0	1	1140	1364	48	2		2	ATP2B3	23	152806914	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	36815	152806914	2463646	15547	19163											
ATP2B3	492	broad.mit.edu	37	X	152821652	152821652	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:152821652A>G	ENST00000370186.1	+	12	2488	c.2162A>G	c.(2161-2163)gAg>gGg	p.E721G	ATP2B3_ENST00000370181.2_Missense_Mutation_p.E721G|ATP2B3_ENST00000349466.2_Missense_Mutation_p.E735G|ATP2B3_ENST00000263519.4_Missense_Mutation_p.E735G|ATP2B3_ENST00000393842.1_Missense_Mutation_p.E721G|ATP2B3_ENST00000359149.3_Missense_Mutation_p.E735G			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	735					ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GAAGGGAAGGAGTTCAACCGG	0.657													6	36					0	0	1	0	0	G	152821652	A	G	152821652	3	3	81	1	0	0	0	0	1	0	0	0	1140	304	11	3	2250	3	ATP2B3	23	152821652	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	14738	152821652	2448908	15548	19164											
ATP2B3	492	broad.mit.edu	37	X	152827665	152827665	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:152827665C>A	ENST00000370186.1	+	18	3408	c.3082C>A	c.(3082-3084)Ctg>Atg	p.L1028M	ATP2B3_ENST00000370181.2_Missense_Mutation_p.L1028M|ATP2B3_ENST00000349466.2_Missense_Mutation_p.L1042M|ATP2B3_ENST00000263519.4_Missense_Mutation_p.L1042M|ATP2B3_ENST00000393842.1_Missense_Mutation_p.L1028M|ATP2B3_ENST00000359149.3_Missense_Mutation_p.L1042M			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	1042					ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GCTCTGGTGCCTGTTTGTTGG	0.587													68	80					2.18329e-32	2.91598e-32	1	1	0	A	152827665	C	A	152827665	3	1	81	1	0	0	0	0	1	0	0	0	1140	680	24	4	3194	4	ATP2B3	23	152827665	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	6013	152827665	2442895	15549	19165											
FAM58A	92002	broad.mit.edu	37	X	152861628	152861628	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:152861628G>A	ENST00000406277.2	-	4	226	c.124C>T	c.(124-126)Cgg>Tgg	p.R42W	FAM58A_ENST00000370175.4_5'UTR	NM_001130997.1|NM_152274.3	NP_001124469.1|NP_689487.2	Q8N1B3	FA58A_HUMAN	family with sequence similarity 58, member A	44					regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent		protein kinase binding			endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(1)	6	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GGAATGGACCGCATCCCTAGC	0.537													40	42					0	0	1	0	0	A	152861628	G	A	152861628	3	1	81	1	0	0	0	0	1	0	0	0	5625	1086	38	1	632	1	FAM58A	23	152861628	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	33963	152861628	2408932	15550	19166											
DUSP9	1852	broad.mit.edu	37	X	152914912	152914912	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:152914912G>A	ENST00000342782.3	+	3	864	c.599G>A	c.(598-600)cGg>cAg	p.R200Q	DUSP9_ENST00000370167.4_Missense_Mutation_p.R200Q			Q99956	DUS9_HUMAN	dual specificity phosphatase 9	200					inactivation of MAPK activity|JNK cascade	cytosol|endoplasmic reticulum|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)	16	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GTGGGGCTGCGGGCATCCTTC	0.637													22	48					0	0	1	0	0	A	152914912	G	A	152914912	3	1	81	1	0	0	0	0	1	0	0	0	4858	1116	39	1	605	1	DUSP9	23	152914912	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	53284	152914912	2355648	15551	19167											
DUSP9	1852	broad.mit.edu	37	X	152915526	152915526	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:152915526G>T	ENST00000342782.3	+	4	1186	c.921G>T	c.(919-921)caG>caT	p.Q307H	DUSP9_ENST00000370167.4_Missense_Mutation_p.Q307H			Q99956	DUS9_HUMAN	dual specificity phosphatase 9	307	Tyrosine-protein phosphatase.				inactivation of MAPK activity|JNK cascade	cytosol|endoplasmic reticulum|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)	16	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					ACCTCATGCAGAAGCTCCACC	0.562													14	303					4.3838e-07	5.09097e-07	1	1	0	T	152915526	G	T	152915526	3	4	81	1	0	0	0	0	1	0	0	0	4858	933	33	4	931	4	DUSP9	23	152915526	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	614	152915526	2355034	15552	19168											
PNCK	139728	broad.mit.edu	37	X	152936198	152936198	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:152936198C>A	ENST00000393831.2	-	10	1398		c.e10+1		PNCK_ENST00000370142.1_Splice_Site|PNCK_ENST00000447676.2_Splice_Site|PNCK_ENST00000370145.4_Splice_Site|PNCK_ENST00000370150.1_Splice_Site|PNCK_ENST00000340888.3_Splice_Site	NM_001039582.3	NP_001034671.3	Q6P2M8	KCC1B_HUMAN	pregnancy up-regulated nonubiquitous CaM kinase							cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			breast(2)|lung(3)|skin(1)	6	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TCCACACTGACCTTCCAGTGT	0.607													16	12					1.5739e-10	1.93127e-10	1	1	0	A	152936198	C	A	152936198	5	1	81	1	0	0	0	0	0	0	1	0	12193	521	18	5	144	5	PNCK	23	152936198	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	20672	152936198	2334362	15553	19169											
PNCK	139728	broad.mit.edu	37	X	152938140	152938140	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:152938140G>A	ENST00000393831.2	-	3	515	c.81C>T	c.(79-81)tcC>tcT	p.S27S	PNCK_ENST00000370142.1_Silent_p.S27S|PNCK_ENST00000447676.2_Silent_p.S110S|PNCK_ENST00000370145.4_Silent_p.S44S|PNCK_ENST00000475172.1_5'UTR|PNCK_ENST00000370150.1_Silent_p.S27S|PNCK_ENST00000340888.3_Silent_p.S27S	NM_001039582.3	NP_001034671.3	Q6P2M8	KCC1B_HUMAN	pregnancy up-regulated nonubiquitous CaM kinase	27	Protein kinase.					cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			breast(2)|lung(3)|skin(1)	6	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GCACCACCTCGGAGAAGGCAC	0.701													16	24					0	0	1	0	0	A	152938140	G	A	152938140	2	1	81	1	0	0	0	0	0	0	0	1	12193	1103	39	1		1	PNCK	23	152938140	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1942	152938140	2332420	15554	19170											
ABCD1	215	broad.mit.edu	37	X	152991339	152991339	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:152991339C>T	ENST00000218104.3	+	1	1017	c.618C>T	c.(616-618)gcC>gcT	p.A206A	ABCD1_ENST00000370129.4_Silent_p.A21A	NM_000033.3	NP_000024.2	P33897	ABCD1_HUMAN	ATP-binding cassette, sub-family D (ALD), member 1	206	ABC transmembrane type-1.				fatty acid beta-oxidation using acyl-CoA oxidase|peroxisomal membrane transport|peroxisome organization	cytosol|integral to peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|identical protein binding|peroxisomal fatty-acyl-CoA transporter activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(2)	18	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCTTTGCGGCCTCTGTGGCCC	0.642													17	29					0	0	1	0	0	T	152991339	C	T	152991339	2	4	81	1	0	0	0	0	0	0	0	1	60	668	24	2		2	ABCD1	23	152991339	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	53199	152991339	2279221	15555	19171											
ABCD1	215	broad.mit.edu	37	X	152991417	152991417	+	Silent	SNP	G	G	A	rs147595334	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:152991417G>A	ENST00000218104.3	+	1	1095	c.696G>A	c.(694-696)gcG>gcA	p.A232A	ABCD1_ENST00000370129.4_Silent_p.A47A	NM_000033.3	NP_000024.2	P33897	ABCD1_HUMAN	ATP-binding cassette, sub-family D (ALD), member 1	232	ABC transmembrane type-1.				fatty acid beta-oxidation using acyl-CoA oxidase|peroxisomal membrane transport|peroxisome organization	cytosol|integral to peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|identical protein binding|peroxisomal fatty-acyl-CoA transporter activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(2)	18	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TGCTTCGGGCGGCCCGCTCCC	0.682													3	36					0	0	1	0	0	A	152991417	G	A	152991417	2	1	81	1	0	0	0	0	0	0	0	1	60	1103	39	1		1	ABCD1	23	152991417	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	78	152991417	2279143	15556	19172											
ABCD1	215	broad.mit.edu	37	X	153005567	153005567	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153005567C>T	ENST00000218104.3	+	6	1909	c.1510C>T	c.(1510-1512)Ctc>Ttc	p.L504F	U52111.14_ENST00000434284.1_RNA	NM_000033.3	NP_000024.2	P33897	ABCD1_HUMAN	ATP-binding cassette, sub-family D (ALD), member 1	504	ABC transporter.				fatty acid beta-oxidation using acyl-CoA oxidase|peroxisomal membrane transport|peroxisome organization	cytosol|integral to peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|identical protein binding|peroxisomal fatty-acyl-CoA transporter activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(2)	18	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CATGCATCTGCTCATCACAGG	0.652													38	48					0	0	1	0	0	T	153005567	C	T	153005567	3	4	81	1	0	0	0	0	1	0	0	0	60	797	28	2	1532	2	ABCD1	23	153005567	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	14150	153005567	2264993	15557	19173											
ABCD1	215	broad.mit.edu	37	X	153005669	153005669	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153005669C>T	ENST00000218104.3	+	6	2011	c.1612C>T	c.(1612-1614)Cgc>Tgc	p.R538C	U52111.14_ENST00000434284.1_RNA	NM_000033.3	NP_000024.2	P33897	ABCD1_HUMAN	ATP-binding cassette, sub-family D (ALD), member 1	538	ABC transporter.				fatty acid beta-oxidation using acyl-CoA oxidase|peroxisomal membrane transport|peroxisome organization	cytosol|integral to peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|identical protein binding|peroxisomal fatty-acyl-CoA transporter activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(2)	18	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCCACCCCAGCGCATGTTCTA	0.637													28	60					0	0	1	0	0	T	153005669	C	T	153005669	3	4	81	1	0	0	0	0	1	0	0	0	60	768	27	1	1634	1	ABCD1	23	153005669	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	102	153005669	2264891	15558	19174											
PLXNB3	5365	broad.mit.edu	37	X	153034402	153034402	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153034402G>T	ENST00000538966.1	+	6	1606		c.e6-1		PLXNB3_ENST00000538776.1_Splice_Site|PLXNB3_ENST00000538543.1_Intron|PLXNB3_ENST00000538282.1_Intron|PLXNB3_ENST00000361971.5_Splice_Site	NM_001163257.1	NP_001156729.1	Q9ULL4	PLXB3_HUMAN	plexin B3						axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity			central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					CCCCCACTCAGGTCTTTCTCC	0.627													5	108					0.0293803	0.0300537	1	1	0	T	153034402	G	T	153034402	5	4	81	1	0	0	0	0	0	0	1	0	12173	1014	35	4	1398	4	PLXNB3	23	153034402	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	28733	153034402	2236158	15559	19175											
PLXNB3	5365	broad.mit.edu	37	X	153035557	153035557	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153035557C>T	ENST00000538966.1	+	9	1980	c.1709C>T	c.(1708-1710)tCt>tTt	p.S570F	PLXNB3_ENST00000538776.1_Missense_Mutation_p.S200F|PLXNB3_ENST00000538543.1_Missense_Mutation_p.S97F|PLXNB3_ENST00000538282.1_Missense_Mutation_p.S157F|PLXNB3_ENST00000361971.5_Missense_Mutation_p.S547F	NM_001163257.1	NP_001156729.1	Q9ULL4	PLXB3_HUMAN	plexin B3	547					axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity			central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					GTCACTTTGTCTGTCCCCCGG	0.617													27	49					0	0	1	0	0	T	153035557	C	T	153035557	3	4	81	1	0	0	0	0	1	0	0	0	12173	913	32	2	1784	2	PLXNB3	23	153035557	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1155	153035557	2235003	15560	19176											
PLXNB3	5365	broad.mit.edu	37	X	153037030	153037030	+	Missense_Mutation	SNP	G	G	A	rs144601801	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153037030G>A	ENST00000538966.1	+	15	2777	c.2506G>A	c.(2506-2508)Ggc>Agc	p.G836S	PLXNB3_ENST00000538776.1_Missense_Mutation_p.G466S|PLXNB3_ENST00000538543.1_Intron|PLXNB3_ENST00000538282.1_Missense_Mutation_p.G423S|PLXNB3_ENST00000361971.5_Missense_Mutation_p.G813S	NM_001163257.1	NP_001156729.1	Q9ULL4	PLXB3_HUMAN	plexin B3	813	IPT/TIG 1.				axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity			central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					GTGTGCTGACGGCCAGCCTGC	0.682													8	14					0	0	1	0	0	A	153037030	G	A	153037030	3	1	81	1	0	0	0	0	1	0	0	0	12173	1116	39	1	2605	1	PLXNB3	23	153037030	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1473	153037030	2233530	15561	19177											
PLXNB3	5365	broad.mit.edu	37	X	153037429	153037429	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153037429G>A	ENST00000538966.1	+	16	2968	c.2697G>A	c.(2695-2697)cgG>cgA	p.R899R	PLXNB3_ENST00000538776.1_Silent_p.R529R|PLXNB3_ENST00000538543.1_3'UTR|PLXNB3_ENST00000538282.1_Silent_p.R486R|PLXNB3_ENST00000361971.5_Silent_p.R876R	NM_001163257.1	NP_001156729.1	Q9ULL4	PLXB3_HUMAN	plexin B3	876	IPT/TIG 1.				axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity			central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					TGGCCAGCCGGCCCTGCAACC	0.687													20	20					0	0	1	0	0	A	153037429	G	A	153037429	2	1	81	1	0	0	0	0	0	0	0	1	12173	1190	42	2		2	PLXNB3	23	153037429	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	399	153037429	2233131	15562	19178											
PLXNB3	5365	broad.mit.edu	37	X	153040344	153040344	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153040344C>T	ENST00000538966.1	+	25	4281	c.4010C>T	c.(4009-4011)aCg>aTg	p.T1337M	PLXNB3_ENST00000538776.1_Missense_Mutation_p.T967M|PLXNB3_ENST00000538282.1_Silent_p.D948D|PLXNB3_ENST00000361971.5_Missense_Mutation_p.T1314M	NM_001163257.1	NP_001156729.1	Q9ULL4	PLXB3_HUMAN	plexin B3	1314					axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity			central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					GACCTCATGACGGAGATGACC	0.687													32	46					0	0	1	0	0	T	153040344	C	T	153040344	3	4	81	1	0	0	0	0	1	0	0	0	12173	536	19	1	4149	1	PLXNB3	23	153040344	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2915	153040344	2230216	15563	19179											
IDH3G	3421	broad.mit.edu	37	X	153055715	153055715	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153055715C>T	ENST00000370092.3	-	4	353	c.168G>A	c.(166-168)acG>acA	p.T56T	IDH3G_ENST00000497043.1_5'UTR|IDH3G_ENST00000217901.5_Silent_p.T56T|IDH3G_ENST00000370093.1_Silent_p.T56T|IDH3G_ENST00000427365.2_5'UTR	NM_174869.2	NP_777358.1	P51553	IDH3G_HUMAN	isocitrate dehydrogenase 3 (NAD+) gamma	56					carbohydrate metabolic process|isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleolus	ATP binding|isocitrate dehydrogenase (NAD+) activity|magnesium ion binding|NAD binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|prostate(1)	17	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)				NADH(DB00157)	TCATGGTCACCGTGTGCCGCC	0.657													7	22					0	0	1	0	0	T	153055715	C	T	153055715	2	4	81	1	0	0	0	0	0	0	0	1	7542	639	23	1		1	IDH3G	23	153055715	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	15371	153055715	2214845	15564	19180											
PDZD4	57595	broad.mit.edu	37	X	153069203	153069203	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153069203G>A	ENST00000164640.4	-	8	2106	c.1915C>T	c.(1915-1917)Cgg>Tgg	p.R639W	PDZD4_ENST00000544474.1_Missense_Mutation_p.R530W|PDZD4_ENST00000393758.2_Missense_Mutation_p.R564W	NM_032512.2	NP_115901.2	Q76G19	PDZD4_HUMAN	PDZ domain containing 4	639						cell cortex				breast(3)|cervix(1)|endometrium(5)|lung(13)|skin(1)	23	all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CGCACGGGCCGCTTGGCCACG	0.682													26	41					0	0	1	0	0	A	153069203	G	A	153069203	3	1	81	1	0	0	0	0	1	0	0	0	11750	1086	38	1	398	1	PDZD4	23	153069203	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	13488	153069203	2201357	15565	19181	98	2									
PDZD4	57595	broad.mit.edu	37	X	153069213	153069213	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153069213G>A	ENST00000164640.4	-	8	2096	c.1905C>T	c.(1903-1905)taC>taT	p.Y635Y	PDZD4_ENST00000544474.1_Silent_p.Y526Y|PDZD4_ENST00000393758.2_Silent_p.Y560Y	NM_032512.2	NP_115901.2	Q76G19	PDZD4_HUMAN	PDZ domain containing 4	635						cell cortex				breast(3)|cervix(1)|endometrium(5)|lung(13)|skin(1)	23	all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GCTTGGCCACGTAGCGGGTTC	0.706													21	44					0	0	1	0	0	A	153069213	G	A	153069213	2	1	81	1	0	0	0	0	0	0	0	1	11750	1140	40	1		1	PDZD4	23	153069213	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	10	153069213	2201347	15566	19182	98	2									
PDZD4	57595	broad.mit.edu	37	X	153069756	153069756	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153069756G>A	ENST00000164640.4	-	8	1553	c.1362C>T	c.(1360-1362)tcC>tcT	p.S454S	PDZD4_ENST00000544474.1_Silent_p.S345S|PDZD4_ENST00000393758.2_Silent_p.S379S	NM_032512.2	NP_115901.2	Q76G19	PDZD4_HUMAN	PDZ domain containing 4	454						cell cortex				breast(3)|cervix(1)|endometrium(5)|lung(13)|skin(1)	23	all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CGGAGATGTCGGACAGCTCGT	0.657													4	48					0	0	1	0	0	A	153069756	G	A	153069756	2	1	81	1	0	0	0	0	0	0	0	1	11750	1103	39	1		1	PDZD4	23	153069756	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	543	153069756	2200804	15567	19183											
L1CAM	3897	broad.mit.edu	37	X	153128322	153128322	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153128322G>A	ENST00000370060.1	-	29	3759	c.3570C>T	c.(3568-3570)agC>agT	p.S1190S	L1CAM_ENST00000361699.4_Silent_p.S1186S|L1CAM_ENST00000543994.1_Silent_p.S1192S|L1CAM_ENST00000538883.1_Silent_p.S1188S|L1CAM_ENST00000361981.3_Silent_p.S1181S|L1CAM_ENST00000370057.3_Silent_p.S1190S|L1CAM_ENST00000370055.1_Silent_p.S1181S	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	1190					axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane				NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					ATGGCTGGCTGCTGCCAAAGG	0.632													7	10					0	0	1	0	0	A	153128322	G	A	153128322	2	1	81	1	0	0	0	0	0	0	0	1	8627	1310	46	2		2	L1CAM	23	153128322	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	58566	153128322	2142238	15568	19184											
L1CAM	3897	broad.mit.edu	37	X	153130424	153130424	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153130424C>T	ENST00000370060.1	-	23	3087	c.2898G>A	c.(2896-2898)ctG>ctA	p.L966L	L1CAM_ENST00000361699.4_Silent_p.L966L|L1CAM_ENST00000543994.1_Silent_p.L968L|L1CAM_ENST00000538883.1_Silent_p.L968L|L1CAM_ENST00000361981.3_Silent_p.L961L|L1CAM_ENST00000370057.3_Silent_p.L966L|L1CAM_ENST00000370055.1_Silent_p.L961L	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	966	Fibronectin type-III 4.				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane				NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GGTTGAAGGACAGTTGCCCCT	0.652													51	81					0	0	1	0	0	T	153130424	C	T	153130424	2	4	81	1	0	0	0	0	0	0	0	1	8627	465	17	2		2	L1CAM	23	153130424	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2102	153130424	2140136	15569	19185											
L1CAM	3897	broad.mit.edu	37	X	153132843	153132843	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153132843G>A	ENST00000370060.1	-	17	2294	c.2105C>T	c.(2104-2106)cCg>cTg	p.P702L	L1CAM_ENST00000361699.4_Missense_Mutation_p.P702L|L1CAM_ENST00000543994.1_Missense_Mutation_p.P704L|L1CAM_ENST00000538883.1_Missense_Mutation_p.P704L|L1CAM_ENST00000361981.3_Missense_Mutation_p.P697L|L1CAM_ENST00000370057.3_Missense_Mutation_p.P702L|L1CAM_ENST00000370055.1_Missense_Mutation_p.P697L	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	702	Fibronectin type-III 1.				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane				NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CTCAGAGACCGGGCTGGGCTC	0.607													44	96					0	0	1	0	0	A	153132843	G	A	153132843	3	1	81	1	0	0	0	0	1	0	0	0	8627	1116	39	1	1720	1	L1CAM	23	153132843	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2419	153132843	2137717	15570	19186											
L1CAM	3897	broad.mit.edu	37	X	153134067	153134067	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153134067C>T	ENST00000370060.1	-	13	1684	c.1495G>A	c.(1495-1497)Gct>Act	p.A499T	L1CAM_ENST00000361699.4_Missense_Mutation_p.A499T|L1CAM_ENST00000543994.1_Missense_Mutation_p.A501T|L1CAM_ENST00000538883.1_Missense_Mutation_p.A501T|L1CAM_ENST00000361981.3_Missense_Mutation_p.A494T|L1CAM_ENST00000370057.3_Missense_Mutation_p.A499T|L1CAM_ENST00000370055.1_Missense_Mutation_p.A494T	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	499	Ig-like C2-type 5.				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane				NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TCATTGGCAGCCAGGCAGAAG	0.557													22	44					0	0	1	0	0	T	153134067	C	T	153134067	3	4	81	1	0	0	0	0	1	0	0	0	8627	739	26	2	2346	2	L1CAM	23	153134067	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1224	153134067	2136493	15571	19187											
L1CAM	3897	broad.mit.edu	37	X	153138122	153138122	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153138122G>T	ENST00000370060.1	-	4	311	c.122C>A	c.(121-123)tCt>tAt	p.S41Y	L1CAM_ENST00000361699.4_Missense_Mutation_p.S41Y|L1CAM_ENST00000543994.1_Missense_Mutation_p.S43Y|L1CAM_ENST00000538883.1_Missense_Mutation_p.S43Y|L1CAM_ENST00000361981.3_Missense_Mutation_p.S36Y|L1CAM_ENST00000370057.3_Missense_Mutation_p.S41Y|L1CAM_ENST00000370055.1_Missense_Mutation_p.S36Y	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	41	Ig-like C2-type 1.				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane				NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GCGCCGTGGAGACTGTTCCGT	0.602													20	43					6.33239e-15	8.06005e-15	1	1	0	T	153138122	G	T	153138122	3	4	81	1	0	0	0	0	1	0	0	0	8627	942	33	4	3755	4	L1CAM	23	153138122	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	4055	153138122	2132438	15572	19188											
AVPR2	554	broad.mit.edu	37	X	153171513	153171513	+	Missense_Mutation	SNP	G	G	T	rs104894748		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153171513G>T	ENST00000358927.2	+	3	762	c.553G>T	c.(553-555)Ggt>Tgt	p.G185C	AVPR2_ENST00000337474.5_Missense_Mutation_p.G185C|AVPR2_ENST00000370049.1_Missense_Mutation_p.G185C			P30518	V2R_HUMAN	arginine vasopressin receptor 2	185			G -> C (in XNDI).		activation of adenylate cyclase activity|excretion|G-protein signaling, coupled to cAMP nucleotide second messenger|hemostasis|positive regulation of gene expression|transmembrane transport|water transport	endoplasmic reticulum|endosome|Golgi apparatus|integral to plasma membrane	vasopressin receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	26	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				Conivaptan(DB00872)|Terlipressin(DB02638)|Vasopressin(DB00067)	CAACGTGGAAGGTGGCAGCGG	0.642													5	43					1.23904e-05	1.39156e-05	1	1	0	T	153171513	G	T	153171513	3	4	81	1	0	0	0	0	1	0	0	0	1231	1000	35	4	559	4	AVPR2	23	153171513	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	33391	153171513	2099047	15573	19189											
AVPR2	554	broad.mit.edu	37	X	153171565	153171565	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153171565G>A	ENST00000358927.2	+	3	814	c.605G>A	c.(604-606)cGt>cAt	p.R202H	AVPR2_ENST00000337474.5_Missense_Mutation_p.R202H|AVPR2_ENST00000370049.1_Missense_Mutation_p.R202H			P30518	V2R_HUMAN	arginine vasopressin receptor 2	202			R -> C (in XNDI).		activation of adenylate cyclase activity|excretion|G-protein signaling, coupled to cAMP nucleotide second messenger|hemostasis|positive regulation of gene expression|transmembrane transport|water transport	endoplasmic reticulum|endosome|Golgi apparatus|integral to plasma membrane	vasopressin receptor activity	p.R202H(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	26	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				Conivaptan(DB00872)|Terlipressin(DB02638)|Vasopressin(DB00067)	CCCTGGGGCCGTCGCACCTAT	0.632													10	56					0	0	1	0	0	A	153171565	G	A	153171565	3	1	81	1	0	0	0	0	1	0	0	0	1231	1145	40	1	611	1	AVPR2	23	153171565	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	52	153171565	2098995	15574	19190											
AVPR2	554	broad.mit.edu	37	X	153171772	153171772	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153171772G>T	ENST00000358927.2	+	3	1021	c.812G>T	c.(811-813)aGg>aTg	p.R271M	AVPR2_ENST00000337474.5_Missense_Mutation_p.R271M|AVPR2_ENST00000370049.1_Missense_Mutation_p.R271M			P30518	V2R_HUMAN	arginine vasopressin receptor 2	271					activation of adenylate cyclase activity|excretion|G-protein signaling, coupled to cAMP nucleotide second messenger|hemostasis|positive regulation of gene expression|transmembrane transport|water transport	endoplasmic reticulum|endosome|Golgi apparatus|integral to plasma membrane	vasopressin receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	26	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				Conivaptan(DB00872)|Terlipressin(DB02638)|Vasopressin(DB00067)	AAGACTGTGAGGATGACGCTA	0.672													36	46					4.92203e-23	6.47644e-23	1	1	0	T	153171772	G	T	153171772	3	4	81	1	0	0	0	0	1	0	0	0	1231	1000	35	4	818	4	AVPR2	23	153171772	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	207	153171772	2098788	15575	19191											
ARHGAP4	393	broad.mit.edu	37	X	153176003	153176003	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153176003G>A	ENST00000370028.3	-	17	2056	c.1999C>T	c.(1999-2001)Ccg>Tcg	p.P667S	ARHGAP4_ENST00000370016.1_Missense_Mutation_p.P606S|ARHGAP4_ENST00000393721.1_Missense_Mutation_p.P449S|ARHGAP4_ENST00000350060.5_Missense_Mutation_p.P627S|ARHGAP4_ENST00000467421.1_5'UTR|ARHGAP4_ENST00000537206.1_Missense_Mutation_p.P604S	NM_001164741.1	NP_001158213.1	P98171	RHG04_HUMAN	Rho GTPase activating protein 4	627	Rho-GAP.				apoptosis|cytoskeleton organization|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|Rho protein signal transduction	cytosol|focal adhesion|nucleus	Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					ACCAGCACCGGCGCGGGCAGC	0.706													7	10					0	0	1	0	0	A	153176003	G	A	153176003	3	1	81	1	0	0	0	0	1	0	0	0	882	1203	42	2	989	2	ARHGAP4	23	153176003	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	4231	153176003	2094557	15576	19192											
HCFC1	3054	broad.mit.edu	37	X	153215027	153215027	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153215027C>T	ENST00000310441.7	-	25	7011	c.6045G>A	c.(6043-6045)aaG>aaA	p.K2015K	HCFC1_ENST00000369984.4_Silent_p.K2060K|HCFC1_ENST00000354233.3_Silent_p.K1946K	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1 (VP16-accessory protein)	2015					cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					ACATGGGCCGCTTGTTGGCTG	0.532													29	58					0	0	1	0	0	T	153215027	C	T	153215027	2	4	81	1	0	0	0	0	0	0	0	1	7032	796	28	2		2	HCFC1	23	153215027	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	39024	153215027	2055533	15577	19193											
HCFC1	3054	broad.mit.edu	37	X	153223328	153223328	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153223328G>T	ENST00000310441.7	-	12	3004	c.2038C>A	c.(2038-2040)Ctg>Atg	p.L680M	HCFC1_ENST00000369984.4_Missense_Mutation_p.L680M|HCFC1_ENST00000354233.3_Missense_Mutation_p.L611M	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1 (VP16-accessory protein)	680	Interaction with SIN3A.				cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					ACTTTGCCCAGATTGGAAATC	0.562													24	38					3.6726e-16	4.70534e-16	1	1	0	T	153223328	G	T	153223328	3	4	81	1	0	0	0	0	1	0	0	0	7032	933	33	4	4129	4	HCFC1	23	153223328	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	8301	153223328	2047232	15578	19194											
HCFC1	3054	broad.mit.edu	37	X	153227081	153227081	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153227081G>A	ENST00000310441.7	-	6	1782	c.816C>T	c.(814-816)ggC>ggT	p.G272G	HCFC1_ENST00000369984.4_Silent_p.G272G|HCFC1_ENST00000461098.1_Intron|HCFC1_ENST00000354233.3_Silent_p.G272G	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1 (VP16-accessory protein)	272					cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GAGGCACCCAGCCACCAAACA	0.547													9	13					0	0	1	0	0	A	153227081	G	A	153227081	2	1	81	1	0	0	0	0	0	0	0	1	7032	958	34	2		2	HCFC1	23	153227081	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	3753	153227081	2043479	15579	19195											
MECP2	4204	broad.mit.edu	37	X	153296256	153296256	+	Silent	SNP	G	G	A	rs62643610		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153296256G>A	ENST00000303391.6	-	4	1272	c.1023C>T	c.(1021-1023)agC>agT	p.S341S	MECP2_ENST00000453960.2_Silent_p.S353S	NM_004992.3	NP_004983.1	P51608	MECP2_HUMAN	methyl CpG binding protein 2 (Rett syndrome)	341					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	heterochromatin|nucleus	double-stranded methylated DNA binding|protein domain specific binding|protein N-terminus binding|transcription corepressor activity			breast(2)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|prostate(2)|urinary_tract(1)	23	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TCCGCCCAGGGCTCTTACAGG	0.627													33	45					0	0	1	0	0	A	153296256	G	A	153296256	2	1	81	1	0	0	0	0	0	0	0	1	9473	1194	42	2		2	MECP2	23	153296256	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	69175	153296256	1974304	15580	19196											
MECP2	4204	broad.mit.edu	37	X	153296283	153296283	+	Silent	SNP	G	G	A	rs61751369		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153296283G>A	ENST00000303391.6	-	4	1245	c.996C>T	c.(994-996)agC>agT	p.S332S	MECP2_ENST00000453960.2_Silent_p.S344S	NM_004992.3	NP_004983.1	P51608	MECP2_HUMAN	methyl CpG binding protein 2 (Rett syndrome)	332					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	heterochromatin|nucleus	double-stranded methylated DNA binding|protein domain specific binding|protein N-terminus binding|transcription corepressor activity			breast(2)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|prostate(2)|urinary_tract(1)	23	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GTCCTTTCCCGCTCTTCTCAC	0.627													36	52					0	0	1	0	0	A	153296283	G	A	153296283	2	1	81	1	0	0	0	0	0	0	0	1	9473	1078	38	1		1	MECP2	23	153296283	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	27	153296283	1974277	15581	19197											
MECP2	4204	broad.mit.edu	37	X	153363099	153363099	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153363099C>T	ENST00000453960.2	-	1	78	c.24G>A	c.(22-24)gcG>gcA	p.A8A	MECP2_ENST00000407218.1_5'UTR|MECP2_ENST00000303391.6_5'UTR	NM_001110792.1	NP_001104262.1	P51608	MECP2_HUMAN	methyl CpG binding protein 2 (Rett syndrome)	0					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	heterochromatin|nucleus	double-stranded methylated DNA binding|protein domain specific binding|protein N-terminus binding|transcription corepressor activity			breast(2)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|prostate(2)|urinary_tract(1)	23	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CTCCGCTCGGCgcggcggcgg	0.776													3	3					0	0	1	0	0	T	153363099	C	T	153363099	2	4	81	1	0	0	0	0	0	0	0	1	9473	755	27	1		1	MECP2	23	153363099	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	66816	153363099	1907461	15582	19198											
FLNA	2316	broad.mit.edu	37	X	153581704	153581704	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153581704C>A	ENST00000422373.1	-	36	6206	c.5958G>T	c.(5956-5958)gaG>gaT	p.E1986D	FLNA_ENST00000360319.4_Missense_Mutation_p.E1986D|FLNA_ENST00000344736.4_Missense_Mutation_p.E1954D|FLNA_ENST00000369856.3_Missense_Mutation_p.E127D|FLNA_ENST00000369850.3_Missense_Mutation_p.E1994D	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN	filamin A, alpha	1994					actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					AACAGGGCTCCTCCCGGCCCG	0.647													6	89					5.18039e-06	5.88187e-06	1	1	0	A	153581704	C	A	153581704	3	1	81	1	0	0	0	0	1	0	0	0	5966	680	24	4	2009	4	FLNA	23	153581704	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	218605	153581704	1688856	15583	19199											
FLNA	2316	broad.mit.edu	37	X	153582583	153582583	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153582583C>T	ENST00000422373.1	-	33	5717	c.5469G>A	c.(5467-5469)cgG>cgA	p.R1823R	FLNA_ENST00000360319.4_Silent_p.R1823R|FLNA_ENST00000344736.4_Silent_p.R1791R|FLNA_ENST00000369856.3_Silent_p.R22R|FLNA_ENST00000369850.3_Silent_p.R1831R	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN	filamin A, alpha	1831					actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TGGGTGCATACCGCACGGTCA	0.652													4	52					0	0	1	0	0	T	153582583	C	T	153582583	2	4	81	1	0	0	0	0	0	0	0	1	5966	494	18	2		2	FLNA	23	153582583	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	879	153582583	1687977	15584	19200											
FLNA	2316	broad.mit.edu	37	X	153582630	153582630	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153582630C>T	ENST00000422373.1	-	33	5670	c.5422G>A	c.(5422-5424)Gcg>Acg	p.A1808T	FLNA_ENST00000360319.4_Missense_Mutation_p.A1808T|FLNA_ENST00000344736.4_Missense_Mutation_p.A1776T|FLNA_ENST00000369856.3_Missense_Mutation_p.A7T|FLNA_ENST00000369850.3_Missense_Mutation_p.A1816T	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN	filamin A, alpha	1816					actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GTGGGCTGCGCCACCTTGCCT	0.632													18	25					0	0	1	0	0	T	153582630	C	T	153582630	3	4	81	1	0	0	0	0	1	0	0	0	5966	739	26	2	2557	2	FLNA	23	153582630	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	47	153582630	1687930	15585	19201											
FLNA	2316	broad.mit.edu	37	X	153583193	153583193	+	Splice_Site	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153583193C>T	ENST00000422373.1	-	30	5441	c.5193G>A	c.(5191-5193)acG>acA	p.T1731T	FLNA_ENST00000360319.4_Splice_Site_p.T1731T|FLNA_ENST00000344736.4_Splice_Site_p.T1731T|FLNA_ENST00000369856.3_5'UTR|FLNA_ENST00000369850.3_Splice_Site_p.T1739T	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN	filamin A, alpha	1739			Missing (in TOD).		actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CCCTCCTCACCGTCACTTGGA	0.637													9	21					0	0	1	0	0	T	153583193	C	T	153583193	5	4	81	1	0	0	0	0	0	0	1	0	5966	666	23	1	2798	1	FLNA	23	153583193	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	563	153583193	1687367	15586	19202											
FLNA	2316	broad.mit.edu	37	X	153587864	153587864	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153587864G>A	ENST00000422373.1	-	24	4378	c.4130C>T	c.(4129-4131)aCt>aTt	p.T1377I	FLNA_ENST00000360319.4_Missense_Mutation_p.T1377I|FLNA_ENST00000344736.4_Missense_Mutation_p.T1377I|FLNA_ENST00000369850.3_Missense_Mutation_p.T1377I	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN	filamin A, alpha	1377					actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GGTCTCCACAGTGAACTTGTT	0.662													110	190					0	0	1	0	0	A	153587864	G	A	153587864	3	1	81	1	0	0	0	0	1	0	0	0	5966	1029	36	2	3913	2	FLNA	23	153587864	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	4671	153587864	1682696	15587	19203											
FLNA	2316	broad.mit.edu	37	X	153588193	153588193	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153588193G>A	ENST00000422373.1	-	23	4134	c.3886C>T	c.(3886-3888)Cgt>Tgt	p.R1296C	FLNA_ENST00000360319.4_Missense_Mutation_p.R1296C|FLNA_ENST00000344736.4_Missense_Mutation_p.R1296C|FLNA_ENST00000369850.3_Missense_Mutation_p.R1296C	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN	filamin A, alpha	1296					actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TTGGCCACACGGGCCTTGACG	0.622													9	49					0	0	1	0	0	A	153588193	G	A	153588193	3	1	81	1	0	0	0	0	1	0	0	0	5966	1116	39	1	4161	1	FLNA	23	153588193	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	329	153588193	1682367	15588	19204											
FLNA	2316	broad.mit.edu	37	X	153589697	153589697	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153589697C>T	ENST00000422373.1	-	21	3434	c.3186G>A	c.(3184-3186)gtG>gtA	p.V1062V	FLNA_ENST00000360319.4_Silent_p.V1062V|FLNA_ENST00000344736.4_Silent_p.V1062V|FLNA_ENST00000369850.3_Silent_p.V1062V	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN	filamin A, alpha	1062					actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TGGTGGGGGCCACAGCTTCCA	0.622													24	32					0	0	1	0	0	T	153589697	C	T	153589697	2	4	81	1	0	0	0	0	0	0	0	1	5966	581	21	2		2	FLNA	23	153589697	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1504	153589697	1680863	15589	19205											
FLNA	2316	broad.mit.edu	37	X	153592534	153592534	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153592534C>A	ENST00000422373.1	-	15	2385		c.e15-1		FLNA_ENST00000360319.4_Splice_Site|FLNA_ENST00000344736.4_Splice_Site|FLNA_ENST00000369850.3_Splice_Site	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN	filamin A, alpha						actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CTTCATTGTCCTGTCAGGCAG	0.627													7	96					0.000157383	0.000171784	1	1	0	A	153592534	C	A	153592534	5	1	81	1	0	0	0	0	0	0	1	0	5966	695	24	4	5943	4	FLNA	23	153592534	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2837	153592534	1678026	15590	19206											
FLNA	2316	broad.mit.edu	37	X	153592950	153592950	+	Missense_Mutation	SNP	G	G	T	rs137853311		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153592950G>T	ENST00000422373.1	-	13	2214	c.1966C>A	c.(1966-1968)Ctc>Atc	p.L656I	FLNA_ENST00000360319.4_Missense_Mutation_p.L656I|FLNA_ENST00000344736.4_Missense_Mutation_p.L656I|FLNA_ENST00000369850.3_Missense_Mutation_p.L656I	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN	filamin A, alpha	656			L -> F (in PVNH1).		actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					AAGGGGCTGAGGCGGATGTCT	0.622													15	33					1.3612e-06	1.56842e-06	1	1	0	T	153592950	G	T	153592950	3	4	81	1	0	0	0	0	1	0	0	0	5966	1000	35	4	6121	4	FLNA	23	153592950	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	416	153592950	1677610	15591	19207											
FLNA	2316	broad.mit.edu	37	X	153596036	153596036	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153596036C>A	ENST00000422373.1	-	4	941	c.693G>T	c.(691-693)caG>caT	p.Q231H	FLNA_ENST00000360319.4_Missense_Mutation_p.Q231H|FLNA_ENST00000344736.4_Missense_Mutation_p.Q231H|FLNA_ENST00000369850.3_Missense_Mutation_p.Q231H	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN	filamin A, alpha	231	Actin-binding.|CH 2.				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					AGTCATCCGCCTGCTGCATGG	0.667													44	72					6.03219e-31	8.04944e-31	1	1	0	A	153596036	C	A	153596036	3	1	81	1	0	0	0	0	1	0	0	0	5966	680	24	4	7430	4	FLNA	23	153596036	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3086	153596036	1674524	15592	19208											
EMD	2010	broad.mit.edu	37	X	153609120	153609120	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153609120A>T	ENST00000369842.4	+	5	695	c.407A>T	c.(406-408)gAt>gTt	p.D136V	EMD_ENST00000492448.1_3'UTR|EMD_ENST00000369835.3_Missense_Mutation_p.D101V	NM_000117.2	NP_000108.1	P50402	EMD_HUMAN	emerin	136	Interaction with F-actin (Probable).				cellular response to growth factor stimulus|muscle contraction|muscle organ development|negative regulation of catenin import into nucleus|negative regulation of fibroblast proliferation|positive regulation of protein export from nucleus|regulation of canonical Wnt receptor signaling pathway	endoplasmic reticulum|integral to membrane|microtubule|nuclear inner membrane|nuclear outer membrane	actin binding|beta-tubulin binding			lung(5)	5	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CAGGTGCATGATGACGATCTT	0.612													31	69					0	0	1	0	0	T	153609120	A	T	153609120	3	4	81	1	0	0	0	0	1	0	0	0	5115	333	12	4	425	4	EMD	23	153609120	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	13084	153609120	1661440	15593	19209											
RPL10	6134	broad.mit.edu	37	X	153627702	153627702	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153627702C>T	ENST00000424325.2	+	3	235	c.47C>T	c.(46-48)cCg>cTg	p.P16L	RPL10_ENST00000369817.2_Missense_Mutation_p.P16L|RPL10_ENST00000406022.2_5'UTR	NM_001256577.1|NM_001256580.1|NM_006013.3	NP_001243506.1|NP_001243509.1|NP_006004.2	P27635	RL10_HUMAN	ribosomal protein L10	16					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|endoplasmic reticulum	structural constituent of ribosome			large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					AAGAACAAGCCGTACCCAAAG	0.552											OREG0019957	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	49	62					0	0	1	0	0	T	153627702	C	T	153627702	3	4	81	1	0	0	0	0	1	0	0	0	13606	652	23	1	53	1	RPL10	23	153627702	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	18582	153627702	1642858	15594	19210											
RPL10	6134	broad.mit.edu	37	X	153627882	153627882	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153627882T>G	ENST00000424325.2	+	4	325	c.137T>G	c.(136-138)tTt>tGt	p.F46C	RPL10_ENST00000369817.2_Missense_Mutation_p.F46C|RPL10_ENST00000406022.2_5'UTR	NM_001256577.1|NM_001256580.1|NM_006013.3	NP_001243506.1|NP_001243509.1|NP_006004.2	P27635	RL10_HUMAN	ribosomal protein L10	46					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|endoplasmic reticulum	structural constituent of ribosome			large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GTGGATGAGTTTCCGCTTTGT	0.522											OREG0019957	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	18	113					0	0	1	0	0	G	153627882	T	G	153627882	3	3	81	1	0	0	0	0	1	0	0	0	13606	1841	64	5	147	5	RPL10	23	153627882	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	180	153627882	1642678	15595	19211											
RPL10	6134	broad.mit.edu	37	X	153628932	153628932	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153628932C>T	ENST00000424325.2	+	6	645	c.457C>T	c.(457-459)Cgc>Tgc	p.R153C	RPL10_ENST00000369817.2_Missense_Mutation_p.R153C|RPL10_ENST00000406022.2_Missense_Mutation_p.R102C	NM_001256577.1|NM_001256580.1|NM_006013.3	NP_001243506.1|NP_001243509.1|NP_006004.2	P27635	RL10_HUMAN	ribosomal protein L10	153					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|endoplasmic reticulum	structural constituent of ribosome			large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TGAGGCCCTGCGCAGGGCCAA	0.572													25	48					0	0	1	0	0	T	153628932	C	T	153628932	3	4	81	1	0	0	0	0	1	0	0	0	13606	768	27	1	475	1	RPL10	23	153628932	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1050	153628932	1641628	15596	19212											
TAZ	6901	broad.mit.edu	37	X	153648575	153648575	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153648575G>A	ENST00000299328.5	+	9	960	c.671G>A	c.(670-672)aGt>aAt	p.S224N	TAZ_ENST00000350743.4_Missense_Mutation_p.S194N|TAZ_ENST00000498029.1_3'UTR|TAZ_ENST00000351413.4_Missense_Mutation_p.S210N|TAZ_ENST00000369776.4_Missense_Mutation_p.S194N|TAZ_ENST00000475699.1_Missense_Mutation_p.S197N|TAZ_ENST00000369790.4_Missense_Mutation_p.S180N	NM_000116.3	NP_000107.1	Q16635	TAZ_HUMAN	tafazzin	224					cardiac muscle contraction|cardiac muscle tissue development|cardiolipin biosynthetic process|cristae formation|hemopoiesis|mitochondrial ATP synthesis coupled electron transport|mitochondrial respiratory chain complex I assembly|skeletal muscle tissue development	integral to membrane|mitochondrion	1-acylglycerophosphocholine O-acyltransferase activity			lung(1)	1	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CTTCCTAACAGTCCGCCCTAC	0.627													28	218					0	0	1	0	0	A	153648575	G	A	153648575	3	1	81	1	0	0	0	0	1	0	0	0	15653	1029	36	2	705	2	TAZ	23	153648575	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	19643	153648575	1621985	15597	19213											
ATP6AP1	537	broad.mit.edu	37	X	153660611	153660611	+	Splice_Site	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153660611G>T	ENST00000369762.2	+	4	424		c.e4-1		ATP6AP1_ENST00000484908.1_Splice_Site	NM_001183.4	NP_001174.2	Q15904	VAS1_HUMAN	ATPase, H+ transporting, lysosomal accessory protein 1						ATP hydrolysis coupled proton transport	integral to membrane|proton-transporting V-type ATPase, V1 domain|vacuolar membrane	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(5)	14	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CCTGTCCCCAGAATGCCCTGG	0.642											OREG0003605	type=REGULATORY REGION|Gene=ATP6AP1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	7	16					1.26484e-09	1.5311e-09	1	1	0	T	153660611	G	T	153660611	5	4	81	1	0	0	0	0	0	0	1	0	1163	956	33	4	377	4	ATP6AP1	23	153660611	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	12036	153660611	1609949	15598	19214											
ATP6AP1	537	broad.mit.edu	37	X	153663813	153663813	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153663813C>T	ENST00000369762.2	+	9	1226	c.1165C>T	c.(1165-1167)Cag>Tag	p.Q389*		NM_001183.4	NP_001174.2	Q15904	VAS1_HUMAN	ATPase, H+ transporting, lysosomal accessory protein 1	389					ATP hydrolysis coupled proton transport	integral to membrane|proton-transporting V-type ATPase, V1 domain|vacuolar membrane	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(5)	14	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GGCCCGCACGCAGCCCTCTCC	0.607													5	37					0	0	1	0	0	T	153663813	C	T	153663813	4	4	81	1	0	0	0	0	0	1	0	0	1163	711	25	2	1199	2	ATP6AP1	23	153663813	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3202	153663813	1606747	15599	19215											
GDI1	2664	broad.mit.edu	37	X	153669466	153669466	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153669466C>T	ENST00000447750.2	+	7	1078	c.743C>T	c.(742-744)aCa>aTa	p.T248I		NM_001493.2	NP_001484.1	P31150	GDIA_HUMAN	GDP dissociation inhibitor 1	248					protein transport|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|midbody	GTPase activator activity|protein binding			autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	16	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TATGGGGGGACATATATGCTG	0.567													50	89					0	0	1	0	0	T	153669466	C	T	153669466	3	4	81	1	0	0	0	0	1	0	0	0	6362	478	17	2	769	2	GDI1	23	153669466	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	5653	153669466	1601094	15600	19216											
PLXNA3	55558	broad.mit.edu	37	X	153696663	153696663	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153696663G>T	ENST00000369682.3	+	23	4156	c.3981G>T	c.(3979-3981)gaG>gaT	p.E1327D		NM_017514.3	NP_059984.3	P51805	PLXA3_HUMAN	plexin A3	1327					axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CCAACGTGGAGAAGGCCCTGC	0.672													6	40					1.26484e-09	1.5311e-09	1	1	0	T	153696663	G	T	153696663	3	4	81	1	0	0	0	0	1	0	0	0	12169	933	33	4	4067	4	PLXNA3	23	153696663	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	27197	153696663	1573897	15601	19217											
PLXNA3	55558	broad.mit.edu	37	X	153699861	153699861	+	Silent	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153699861C>A	ENST00000369682.3	+	32	5575	c.5400C>A	c.(5398-5400)tcC>tcA	p.S1800S		NM_017514.3	NP_059984.3	P51805	PLXA3_HUMAN	plexin A3	1800					axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					AGATGGCATCCATCAGCGACC	0.552													8	90					0.335167	0.336411	1	1	0	A	153699861	C	A	153699861	2	1	81	1	0	0	0	0	0	0	0	1	12169	581	21	5		5	PLXNA3	23	153699861	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3198	153699861	1570699	15602	19218											
UBL4A	8266	broad.mit.edu	37	X	153714147	153714147	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153714147G>A	ENST00000369660.4	-	3	411	c.326C>T	c.(325-327)gCg>gTg	p.A109V	UBL4A_ENST00000369653.4_Missense_Mutation_p.A109V|UBL4A_ENST00000477777.1_5'UTR	NM_014235.3	NP_055050.1	P11441	UBL4A_HUMAN	ubiquitin-like 4A	109					protein modification process|tail-anchored membrane protein insertion into ER membrane|transport	BAT3 complex	small conjugating protein ligase activity	p.A109V(1)		endometrium(5)|lung(1)|urinary_tract(1)	7	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GGCATCTGCCGCACTGAAGTG	0.622													37	59					0	0	1	0	0	A	153714147	G	A	153714147	3	1	81	1	0	0	0	0	1	0	0	0	16948	1087	38	1	155	1	UBL4A	23	153714147	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	14286	153714147	1556413	15603	19219											
SLC10A3	8273	broad.mit.edu	37	X	153716011	153716011	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153716011C>T	ENST00000263512.4	-	2	1767	c.1269G>A	c.(1267-1269)gtG>gtA	p.V423V	SLC10A3_ENST00000393586.1_Silent_p.V478V|SLC10A3_ENST00000393587.4_Silent_p.V423V|SLC10A3_ENST00000369649.4_Silent_p.V394V	NM_019848.3	NP_062822.1	P09131	P3_HUMAN	solute carrier family 10, member 3	423					organic anion transport	integral to membrane	bile acid:sodium symporter activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GGCTGTTCTGCACCCCTACCT	0.647													4	32					0	0	1	0	0	T	153716011	C	T	153716011	2	4	81	1	0	0	0	0	0	0	0	1	14430	697	25	2		2	SLC10A3	23	153716011	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1864	153716011	1554549	15604	19220											
SLC10A3	8273	broad.mit.edu	37	X	153717057	153717057	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153717057C>T	ENST00000263512.4	-	2	721	c.223G>A	c.(223-225)Gag>Aag	p.E75K	SLC10A3_ENST00000393586.1_Missense_Mutation_p.E130K|SLC10A3_ENST00000393587.4_Missense_Mutation_p.E75K|SLC10A3_ENST00000369649.4_Missense_Mutation_p.E75K	NM_019848.3	NP_062822.1	P09131	P3_HUMAN	solute carrier family 10, member 3	75					organic anion transport	integral to membrane	bile acid:sodium symporter activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					AACTCAAACTCCATCACAGAG	0.632													12	134					0	0	1	0	0	T	153717057	C	T	153717057	3	4	81	1	0	0	0	0	1	0	0	0	14430	864	30	2	1214	2	SLC10A3	23	153717057	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1046	153717057	1553503	15605	19221											
G6PD	2539	broad.mit.edu	37	X	153762600	153762600	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153762600G>A	ENST00000393562.2	-	6	1070	c.687C>T	c.(685-687)atC>atT	p.I229I	G6PD_ENST00000369620.2_Silent_p.I199I|G6PD_ENST00000393564.2_Silent_p.I199I	NM_000402.3	NP_000393.4	P11413	G6PD_HUMAN	glucose-6-phosphate dehydrogenase	199					cellular response to oxidative stress|cholesterol biosynthetic process|cytokine production|erythrocyte maturation|glucose 6-phosphate metabolic process|glutathione metabolic process|negative regulation of protein glutathionylation|pentose-phosphate shunt, oxidative branch|ribose phosphate biosynthetic process	centrosome|cytosol|internal side of plasma membrane|intracellular membrane-bounded organelle	glucose binding|glucose-6-phosphate dehydrogenase activity|NADP binding|protein homodimerization activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(3)|ovary(4)	18	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GGTAGTGGTCGATGCGGTAGA	0.632													22	32					0	0	1	0	0	A	153762600	G	A	153762600	2	1	81	1	0	0	0	0	0	0	0	1	6181	1048	37	1		1	G6PD	23	153762600	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	45543	153762600	1507960	15606	19222											
G6PD	2539	broad.mit.edu	37	X	153774302	153774302	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153774302G>A	ENST00000393562.2	-	2	542	c.159C>T	c.(157-159)ggC>ggT	p.G53G	IKBKG_ENST00000369609.5_Intron|G6PD_ENST00000497281.1_5'UTR|G6PD_ENST00000369620.2_Silent_p.G23G|IKBKG_ENST00000369607.1_Intron|G6PD_ENST00000393564.2_Silent_p.G23G	NM_000402.3	NP_000393.4	P11413	G6PD_HUMAN	glucose-6-phosphate dehydrogenase	23					cellular response to oxidative stress|cholesterol biosynthetic process|cytokine production|erythrocyte maturation|glucose 6-phosphate metabolic process|glutathione metabolic process|negative regulation of protein glutathionylation|pentose-phosphate shunt, oxidative branch|ribose phosphate biosynthetic process	centrosome|cytosol|internal side of plasma membrane|intracellular membrane-bounded organelle	glucose binding|glucose-6-phosphate dehydrogenase activity|NADP binding|protein homodimerization activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(3)|ovary(4)	18	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GGAAGGCATCGCCCTGGAAAA	0.567													93	105					0	0	1	0	0	A	153774302	G	A	153774302	2	1	81	1	0	0	0	0	0	0	0	1	6181	1074	38	1		1	G6PD	23	153774302	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	11702	153774302	1496258	15607	19223											
CTAG2	30848	broad.mit.edu	37	X	153881751	153881751	+	Silent	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153881751G>A	ENST00000247306.4	-	1	102	c.39C>T	c.(37-39)ggC>ggT	p.G13G	CTAG2_ENST00000369585.3_Silent_p.G13G	NM_020994.3	NP_066274.2	O75638	CTAG2_HUMAN	cancer/testis antigen 2	13	Gly-rich.					centrosome				central_nervous_system(1)|endometrium(1)|lung(6)|ovary(1)|pancreas(1)	10	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CATCAGCATCGCCCGTCGAAC	0.716													7	8					0	0	1	0	0	A	153881751	G	A	153881751	2	1	81	1	0	0	0	0	0	0	0	1	4016	1074	38	1		1	CTAG2	23	153881751	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	107449	153881751	1388809	15608	19224											
GAB3	139716	broad.mit.edu	37	X	153940612	153940612	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153940612G>A	ENST00000369575.3	-	4	989	c.958C>T	c.(958-960)Cgg>Tgg	p.R320W	GAB3_ENST00000496390.1_Intron|GAB3_ENST00000424127.2_Missense_Mutation_p.R321W	NM_001081573.1|NM_080612.2	NP_001075042.1|NP_542179.1	Q8WWW8	GAB3_HUMAN	GRB2-associated binding protein 3	320										NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)	25	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					TCTTGGCGCCGTTCAGACAGA	0.493													53	85					0	0	1	0	0	A	153940612	G	A	153940612	3	1	81	1	0	0	0	0	1	0	0	0	6185	1144	40	1	830	1	GAB3	23	153940612	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	58861	153940612	1329948	15609	19225											
GAB3	139716	broad.mit.edu	37	X	153940894	153940894	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153940894G>T	ENST00000369575.3	-	4	707	c.676C>A	c.(676-678)Ctg>Atg	p.L226M	GAB3_ENST00000496390.1_Intron|GAB3_ENST00000424127.2_Missense_Mutation_p.L227M	NM_001081573.1|NM_080612.2	NP_001075042.1|NP_542179.1	Q8WWW8	GAB3_HUMAN	GRB2-associated binding protein 3	226										NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)	25	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					AGCGGCTGCAGGCAGTCAACA	0.547													6	52					8.12818e-05	8.94031e-05	1	1	0	T	153940894	G	T	153940894	3	4	81	1	0	0	0	0	1	0	0	0	6185	991	35	4	1112	4	GAB3	23	153940894	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	282	153940894	1329666	15610	19226											
GAB3	139716	broad.mit.edu	37	X	153941611	153941611	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153941611G>T	ENST00000369575.3	-	3	495	c.464C>A	c.(463-465)tCt>tAt	p.S155Y	GAB3_ENST00000496390.1_5'UTR|GAB3_ENST00000424127.2_Missense_Mutation_p.S156Y	NM_001081573.1|NM_080612.2	NP_001075042.1|NP_542179.1	Q8WWW8	GAB3_HUMAN	GRB2-associated binding protein 3	155										NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)	25	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					TCTTGGCAAAGAGGAGCTGGC	0.527													16	119					5.35267e-07	6.21096e-07	1	1	0	T	153941611	G	T	153941611	3	4	81	1	0	0	0	0	1	0	0	0	6185	942	33	4	1328	4	GAB3	23	153941611	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	717	153941611	1328949	15611	19227											
DKC1	1736	broad.mit.edu	37	X	153993731	153993731	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153993731G>A	ENST00000369550.5	+	3	307	c.97G>A	c.(97-99)Gct>Act	p.A33T		NM_001142463.1|NM_001363.3	NP_001135935.1|NP_001354.1	O60832	DKC1_HUMAN	dyskeratosis congenita 1, dyskerin	33					cell proliferation|pseudouridine synthesis|rRNA processing|telomere maintenance via telomerase	Cajal body|nucleolus|telomerase holoenzyme complex	protein binding|pseudouridine synthase activity|RNA binding|telomerase activity			breast(2)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)	15	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					AATACAACACGCTGAAGAATT	0.388									Congenital Dyskeratosis				85	150					0	0	1	0	0	A	153993731	G	A	153993731	3	1	81	1	0	0	0	0	1	0	0	0	4570	1087	38	1	107	1	DKC1	23	153993731	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	52120	153993731	1276829	15612	19228											
DKC1	1736	broad.mit.edu	37	X	153994250	153994250	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153994250G>T	ENST00000369550.5	+	4	450	c.240G>T	c.(238-240)aaG>aaT	p.K80N		NM_001142463.1|NM_001363.3	NP_001135935.1|NP_001354.1	O60832	DKC1_HUMAN	dyskeratosis congenita 1, dyskerin	80					cell proliferation|pseudouridine synthesis|rRNA processing|telomere maintenance via telomerase	Cajal body|nucleolus|telomerase holoenzyme complex	protein binding|pseudouridine synthase activity|RNA binding|telomerase activity			breast(2)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)	15	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					ATCCTCTGAAGAGAGAGATTG	0.398									Congenital Dyskeratosis				31	68					8.16721e-17	1.05009e-16	1	1	0	T	153994250	G	T	153994250	3	4	81	1	0	0	0	0	1	0	0	0	4570	933	33	4	254	4	DKC1	23	153994250	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	519	153994250	1276310	15613	19229											
DKC1	1736	broad.mit.edu	37	X	154004499	154004499	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:154004499C>A	ENST00000369550.5	+	14	1586	c.1376C>A	c.(1375-1377)cCt>cAt	p.P459H	DKC1_ENST00000475966.1_3'UTR	NM_001142463.1|NM_001363.3	NP_001135935.1|NP_001354.1	O60832	DKC1_HUMAN	dyskeratosis congenita 1, dyskerin	459	Nuclear and nucleolar localization.				cell proliferation|pseudouridine synthesis|rRNA processing|telomere maintenance via telomerase	Cajal body|nucleolus|telomerase holoenzyme complex	protein binding|pseudouridine synthase activity|RNA binding|telomerase activity			breast(2)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)	15	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					GACGAGACTCCTCCAGCAGCT	0.493									Congenital Dyskeratosis				21	27					1.50039e-11	1.86073e-11	1	1	0	A	154004499	C	A	154004499	3	1	81	1	0	0	0	0	1	0	0	0	4570	681	24	4	1430	4	DKC1	23	154004499	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	10249	154004499	1266061	15614	19230											
MPP1	4354	broad.mit.edu	37	X	154020423	154020423	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:154020423C>T	ENST00000413259.3	-	3	542	c.150G>A	c.(148-150)gaG>gaA	p.E50E	MPP1_ENST00000393531.1_Silent_p.E80E|MPP1_ENST00000369534.3_Silent_p.E80E|MPP1_ENST00000462825.1_Intron	NM_001166462.1	NP_001159934.1	Q00013	EM55_HUMAN	membrane protein, palmitoylated 1, 55kDa	80					regulation of neutrophil chemotaxis|signal transduction	integral to plasma membrane|membrane fraction|stereocilium	guanylate kinase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(9)|ovary(2)|prostate(1)	21	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					TTACCATGGGCTCTTCTGTGA	0.557													4	112					0	0	1	0	0	T	154020423	C	T	154020423	2	4	81	1	0	0	0	0	0	0	0	1	9782	796	28	2		2	MPP1	23	154020423	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	15924	154020423	1250137	15615	19231											
F8	2157	broad.mit.edu	37	X	154088874	154088874	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:154088874G>A	ENST00000360256.4	-	25	6933	c.6733C>T	c.(6733-6735)Cca>Tca	p.P2245S	F8_ENST00000330287.6_Missense_Mutation_p.P110S	NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	2245	F5/8 type C 2.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	CACTCTTTTGGATTATTCACC	0.443													38	56					0	0	1	0	0	A	154088874	G	A	154088874	3	1	81	1	0	0	0	0	1	0	0	0	5378	1174	41	2	330	2	F8	23	154088874	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	68451	154088874	1181686	15616	19232											
F8	2157	broad.mit.edu	37	X	154091391	154091391	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:154091391G>T	ENST00000360256.4	-	23	6741	c.6541C>A	c.(6541-6543)Ctt>Att	p.L2181I	F8_ENST00000330287.6_Missense_Mutation_p.L46I	NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	2181	F5/8 type C 1.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	TCCATGCGAAGAGTGCTGCGA	0.418													32	53					6.00712e-18	7.77549e-18	1	1	0	T	154091391	G	T	154091391	3	4	81	1	0	0	0	0	1	0	0	0	5378	942	33	4	530	4	F8	23	154091391	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2517	154091391	1179169	15617	19233											
F8	2157	broad.mit.edu	37	X	154132706	154132706	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:154132706C>T	ENST00000360256.4	-	17	5880	c.5680G>A	c.(5680-5682)Gaa>Aaa	p.E1894K		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	1894	F5/8 type A 3.|Plastocyanin-like 6.		E -> G (in HEMA; moderate).		acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	AGAGCAAATTCCTGTACTGTC	0.468													77	145					0	0	1	0	0	T	154132706	C	T	154132706	3	4	81	1	0	0	0	0	1	0	0	0	5378	864	30	2	1443	2	F8	23	154132706	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	41315	154132706	1137854	15618	19234											
F8	2157	broad.mit.edu	37	X	154133205	154133205	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:154133205T>G	ENST00000360256.4	-	16	5667	c.5467A>C	c.(5467-5469)Aaa>Caa	p.K1823Q		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	1823	F5/8 type A 3.|Plastocyanin-like 5.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	ACAAAGTTTTTTCTAGGTTCT	0.408													10	108					0	0	1	0	0	G	154133205	T	G	154133205	3	3	81	1	0	0	0	0	1	0	0	0	5378	1850	64	5	1660	5	F8	23	154133205	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	499	154133205	1137355	15619	19235											
F8	2157	broad.mit.edu	37	X	154133299	154133299	+	Splice_Site	SNP	C	C	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:154133299C>A	ENST00000360256.4	-	16	5574		c.e16-1			NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component						acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	TGAAAGTTACCTGTAGAACAA	0.368													21	36					4.96729e-08	5.86596e-08	1	1	0	A	154133299	C	A	154133299	5	1	81	1	0	0	0	0	0	0	1	0	5378	695	24	4	1754	4	F8	23	154133299	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	94	154133299	1137261	15620	19236											
F8	2157	broad.mit.edu	37	X	154156921	154156921	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:154156921C>T	ENST00000360256.4	-	14	5344	c.5144G>A	c.(5143-5145)cGa>cAa	p.R1715Q		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	1715	F5/8 type A 3.|Plastocyanin-like 5.		R -> G (in HEMA; mild).		acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	AAAATAGTGTCGTGTTTTCTT	0.398													5	57					0	0	1	0	0	T	154156921	C	T	154156921	3	4	81	1	0	0	0	0	1	0	0	0	5378	884	31	1	1991	1	F8	23	154156921	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	23622	154156921	1113639	15621	19237											
F8	2157	broad.mit.edu	37	X	154158779	154158779	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:154158779C>T	ENST00000360256.4	-	14	3486	c.3286G>A	c.(3286-3288)Gtc>Atc	p.V1096I		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	1096	B.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	TTCTGTTGGACCATTTCCATG	0.378													43	53					0	0	1	0	0	T	154158779	C	T	154158779	3	4	81	1	0	0	0	0	1	0	0	0	5378	507	18	2	3849	2	F8	23	154158779	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1858	154158779	1111781	15622	19238											
F8	2157	broad.mit.edu	37	X	154159626	154159626	+	Silent	SNP	C	C	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:154159626C>T	ENST00000360256.4	-	14	2639	c.2439G>A	c.(2437-2439)ttG>ttA	p.L813L		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	813	B.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	GACTCTGTCGCAAGAGCATCA	0.418													52	95					0	0	1	0	0	T	154159626	C	T	154159626	2	4	81	1	0	0	0	0	0	0	0	1	5378	709	25	2		2	F8	23	154159626	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	847	154159626	1110934	15623	19239											
F8	2157	broad.mit.edu	37	X	154194307	154194307	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:154194307T>C	ENST00000360256.4	-	9	1581	c.1381A>G	c.(1381-1383)Att>Gtt	p.I461V	F8_ENST00000483822.1_5'UTR	NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	461	F5/8 type A 2.|Plastocyanin-like 3.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	TCATGCTGAATAGCTTCACGA	0.393													56	97					0	0	1	0	0	C	154194307	T	C	154194307	3	2	81	1	0	0	0	0	1	0	0	0	5378	1406	49	3	5774	3	F8	23	154194307	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	34681	154194307	1076253	15624	19240											
VBP1	7411	broad.mit.edu	37	X	154456691	154456691	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:154456691G>A	ENST00000286428.5	+	4	428	c.311G>A	c.(310-312)aGa>aAa	p.R104K	VBP1_ENST00000535916.1_Missense_Mutation_p.R99K	NM_003372.5	NP_003363.1	P61758	PFD3_HUMAN	von Hippel-Lindau binding protein 1	104					'de novo' posttranslational protein folding	nucleus|prefoldin complex	unfolded protein binding			NS(1)|endometrium(3)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	12	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					ATGGAGACCAGATTCTTGCTG	0.408													92	139					0	0	1	0	0	A	154456691	G	A	154456691	3	1	81	1	0	0	0	0	1	0	0	0	17196	942	33	2	325	2	VBP1	23	154456691	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	262384	154456691	813869	15625	19241											
CLIC2	1193	broad.mit.edu	37	X	154528182	154528182	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:154528182G>T	ENST00000369449.2	-	3	427	c.209C>A	c.(208-210)cCt>cAt	p.P70H	CLIC2_ENST00000465553.1_5'UTR	NM_001289.4	NP_001280.3	O15247	CLIC2_HUMAN	chloride intracellular channel 2	70	N-terminal.|Required for insertion into the membrane (By similarity).				signal transduction	chloride channel complex|cytoplasm|nucleus	voltage-gated chloride channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)	18	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					CAGGAACGGAGGATTGGTACC	0.373													28	55					1.5548e-18	2.01812e-18	1	1	0	T	154528182	G	T	154528182	3	4	81	1	0	0	0	0	1	0	0	0	3549	1000	35	4	550	4	CLIC2	23	154528182	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	71491	154528182	742378	15626	19242											
TMLHE	55217	broad.mit.edu	37	X	154754131	154754131	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:154754131G>A	ENST00000334398.3	-	3	489	c.344C>T	c.(343-345)aCa>aTa	p.T115I	TMLHE-AS1_ENST00000452506.1_RNA|TMLHE_ENST00000369439.4_Missense_Mutation_p.T115I	NM_018196.3	NP_060666.1	Q9NVH6	TMLH_HUMAN	trimethyllysine hydroxylase, epsilon	115					carnitine biosynthetic process	mitochondrial matrix	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|trimethyllysine dioxygenase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	20	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Succinic acid(DB00139)|Vitamin C(DB00126)	GAAAAAGAGTGTGGTCTCATC	0.443													121	200					0	0	1	0	0	A	154754131	G	A	154754131	3	1	81	1	0	0	0	0	1	0	0	0	16292	1377	48	2	1085	2	TMLHE	23	154754131	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	225949	154754131	516429	15627	19243											
IL9R	3581	broad.mit.edu	37	X	155231119	155231119	+	Translation_Start_Site	SNP	G	G	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:155231119G>A	ENST00000424344.3	+	0	254				IL9R_ENST00000369423.2_Missense_Mutation_p.G31S|IL9R_ENST00000540897.1_Missense_Mutation_p.G21S|IL9R_ENST00000244174.5_Intron			Q01113	IL9R_HUMAN	interleukin 9 receptor						cell proliferation	extracellular space|integral to plasma membrane	interleukin-9 receptor activity			NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(12)|upper_aerodigestive_tract(1)	23	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					AACTTGCCACGGTGTTTCATG	0.547													64	162					0	0	1	0	0	A	155231119	G	A	155231119	1	1	81	1	0	0	0	0	0	0	0	0	7752	1131	39	1		1	IL9R	23	155231119	Translation_Start_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	476988	155231119	39441	15628	19244											
MTOR	2475	broad.mit.edu	37	1	11177096	11177096	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6393-01A-11D-1705-08	TCGA-DU-6393-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507dfb6e-244c-408c-a9e4-bce950ceadca	9dd8e0bf-af83-43fa-baf9-c445c02c1014	g.chr1:11177096C>T	ENST00000361445.4	-	50	7057	c.6981G>A	c.(6979-6981)atG>atA	p.M2327I	MTOR_ENST00000376838.1_Missense_Mutation_p.M532I	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	2327	PI3K/PI4K.				cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						CAACCATTGACATGACCGCTA	0.383													33	11					0	0	0.064281	0	0	T	11177096	C	T	11177096	3	4	82	1	0	0	0	0	1	0	0	0	10002	478	17	2	704	2	MTOR	1	11177096	Missense_Mutation	SNP	C	TCGA-DU-6393-01A-11D-1705-08		11177096	238073525	1	19245											
INSL5	10022	broad.mit.edu	37	1	67266844	67266844	+	Missense_Mutation	SNP	G	G	A	rs146406445	byFrequency	TCGA-DU-6393-01A-11D-1705-08	TCGA-DU-6393-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507dfb6e-244c-408c-a9e4-bce950ceadca	9dd8e0bf-af83-43fa-baf9-c445c02c1014	g.chr1:67266844G>A	ENST00000304526.2	-	1	95	c.61C>T	c.(61-63)Cgg>Tgg	p.R21W		NM_005478.4	NP_005469.2	Q9Y5Q6	INSL5_HUMAN	insulin-like 5	21						extracellular region	hormone activity			breast(2)|endometrium(1)|lung(5)	8						TCCTTGCTCCGCACTTCTGAG	0.453													12	20					0	0	0.080935	0	0	A	67266844	G	A	67266844	3	1	82	1	0	0	0	0	1	0	0	0	7813	1086	38	1	354	1	INSL5	1	67266844	Missense_Mutation	SNP	G	TCGA-DU-6393-01A-11D-1705-08	56089748	67266844	181983777	2	19246											
ASB17	127247	broad.mit.edu	37	1	76387892	76387892	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6393-01A-11D-1705-08	TCGA-DU-6393-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507dfb6e-244c-408c-a9e4-bce950ceadca	9dd8e0bf-af83-43fa-baf9-c445c02c1014	g.chr1:76387892A>G	ENST00000284142.6	-	2	693	c.554T>C	c.(553-555)aTa>aCa	p.I185T		NM_080868.2	NP_543144.1	Q8WXJ9	ASB17_HUMAN	ankyrin repeat and SOCS box containing 17	185					intracellular signal transduction					breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	21						GTAGAGTACTATTGTTAAGAC	0.358													23	8					0	0	0.083992	0	0	G	76387892	A	G	76387892	3	3	82	1	0	0	0	0	1	0	0	0	1020	449	16	3	341	3	ASB17	1	76387892	Missense_Mutation	SNP	A	TCGA-DU-6393-01A-11D-1705-08	9121048	76387892	172862729	3	19247											
TCHH	7062	broad.mit.edu	37	1	152085364	152085364	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6393-01A-11D-1705-08	TCGA-DU-6393-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507dfb6e-244c-408c-a9e4-bce950ceadca	9dd8e0bf-af83-43fa-baf9-c445c02c1014	g.chr1:152085364A>G	ENST00000368804.1	-	2	328	c.329T>C	c.(328-330)tTa>tCa	p.L110S		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	110					keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCGATCTTGTAACAGGCTCTC	0.542													94	73					0	0	0.048971	0	0	G	152085364	A	G	152085364	3	3	82	1	0	0	0	0	1	0	0	0	15760	372	13	3	5506	3	TCHH	1	152085364	Missense_Mutation	SNP	A	TCGA-DU-6393-01A-11D-1705-08	75697472	152085364	97165257	4	19248											
HRNR	388697	broad.mit.edu	37	1	152187067	152187067	+	Silent	SNP	A	A	T			TCGA-DU-6393-01A-11D-1705-08	TCGA-DU-6393-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507dfb6e-244c-408c-a9e4-bce950ceadca	9dd8e0bf-af83-43fa-baf9-c445c02c1014	g.chr1:152187067A>T	ENST00000368801.2	-	3	7113	c.7038T>A	c.(7036-7038)tcT>tcA	p.S2346S	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	2346					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCCATGAGCTAGACTCGTGGT	0.572													68	911					0	0	0.048971	0	0	T	152187067	A	T	152187067	2	4	82	1	0	0	0	0	0	0	0	1	7400	407	15	5		5	HRNR	1	152187067	Silent	SNP	A	TCGA-DU-6393-01A-11D-1705-08	101703	152187067	97063554	5	19249											
FCRL1	115350	broad.mit.edu	37	1	157766909	157766909	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6393-01A-11D-1705-08	TCGA-DU-6393-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507dfb6e-244c-408c-a9e4-bce950ceadca	9dd8e0bf-af83-43fa-baf9-c445c02c1014	g.chr1:157766909C>T	ENST00000358292.3	-	9	1124	c.1073G>A	c.(1072-1074)gGa>gAa	p.G358E	FCRL1_ENST00000491942.1_Silent_p.G399G|FCRL1_ENST00000368176.3_Silent_p.G400G|FCRL1_ENST00000489998.1_5'UTR	NM_001159397.1	NP_001152869.1	Q96LA6	FCRL1_HUMAN	Fc receptor-like 1	0						integral to membrane|plasma membrane	receptor activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6)	42	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			CCATATGTGTCCCCAGGGTTT	0.403													25	68					0	0	0.108266	0	0	T	157766909	C	T	157766909	3	4	82	1	0	0	0	0	1	0	0	0	5827	855	30	2	97	2	FCRL1	1	157766909	Missense_Mutation	SNP	C	TCGA-DU-6393-01A-11D-1705-08	5579842	157766909	91483712	6	19250											
TTN	7273	broad.mit.edu	37	2	179614115	179614115	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6393-01A-11D-1705-08	TCGA-DU-6393-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507dfb6e-244c-408c-a9e4-bce950ceadca	9dd8e0bf-af83-43fa-baf9-c445c02c1014	g.chr2:179614115G>A	ENST00000360870.5	-	46	13234	c.13012C>T	c.(13012-13014)Cat>Tat	p.H4338Y	TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Intron	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	472	Ig-like 23.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GAAGCACCATGCACAAATCTG	0.403													63	67					0	0	0.048971	0	0	A	179614115	G	A	179614115	3	1	82	1	0	0	0	0	1	0	0	0	16797	1319	46	2	97285	2	TTN	2	179614115	Missense_Mutation	SNP	G	TCGA-DU-6393-01A-11D-1705-08		179614115	63585258	7	19251											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-DU-6393-01A-11D-1705-08	TCGA-DU-6393-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507dfb6e-244c-408c-a9e4-bce950ceadca	9dd8e0bf-af83-43fa-baf9-c445c02c1014	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	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								22	39					0	0	0.069288	0	0	T	209113112	C	T	209113112	3	4	82	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-DU-6393-01A-11D-1705-08	29498997	209113112	34086261	8	19252											
DIS3L2	129563	broad.mit.edu	37	2	233028242	233028242	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6393-01A-11D-1705-08	TCGA-DU-6393-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507dfb6e-244c-408c-a9e4-bce950ceadca	9dd8e0bf-af83-43fa-baf9-c445c02c1014	g.chr2:233028242G>A	ENST00000325385.7	+	9	1300	c.1024G>A	c.(1024-1026)Gtg>Atg	p.V342M	DIS3L2_ENST00000409307.1_Missense_Mutation_p.V342M|DIS3L2_ENST00000273009.6_Missense_Mutation_p.V342M	NM_152383.4	NP_689596.4	Q8IYB7	DI3L2_HUMAN	DIS3 mitotic control homolog (S. cerevisiae)-like 2	342							exonuclease activity|ribonuclease activity|RNA binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(2)|urinary_tract(1)	40		all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136)		Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149)		AGAGTATGGCGTGGATTTCTC	0.453													14	37					0	0	0.020292	0	0	A	233028242	G	A	233028242	3	1	82	1	0	0	0	0	1	0	0	0	4565	1145	40	1	1054	1	DIS3L2	2	233028242	Missense_Mutation	SNP	G	TCGA-DU-6393-01A-11D-1705-08	23915130	233028242	10171131	9	19253											
ZBTB20	26137	broad.mit.edu	37	3	114069362	114069362	+	Silent	SNP	G	G	A			TCGA-DU-6393-01A-11D-1705-08	TCGA-DU-6393-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507dfb6e-244c-408c-a9e4-bce950ceadca	9dd8e0bf-af83-43fa-baf9-c445c02c1014	g.chr3:114069362G>A	ENST00000462705.1	-	11	2165	c.1344C>T	c.(1342-1344)ccC>ccT	p.P448P	ZBTB20_ENST00000357258.3_Silent_p.P448P|ZBTB20_ENST00000464560.1_Silent_p.P448P|ZBTB20_ENST00000474710.1_Silent_p.P521P|ZBTB20_ENST00000393785.2_Silent_p.P448P|ZBTB20_ENST00000471418.1_Silent_p.P448P|ZBTB20_ENST00000481632.1_Silent_p.P448P	NM_001164343.1	NP_001157815.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	521					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		GGAAAGGCTTGGGGCCACTGC	0.627													28	45					0	0	0.041601	0	0	A	114069362	G	A	114069362	2	1	82	1	0	0	0	0	0	0	0	1	17588	1335	47	2		2	ZBTB20	3	114069362	Silent	SNP	G	TCGA-DU-6393-01A-11D-1705-08		114069362	83953068	10	19254											
BFSP2	8419	broad.mit.edu	37	3	133119336	133119336	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6393-01A-11D-1705-08	TCGA-DU-6393-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507dfb6e-244c-408c-a9e4-bce950ceadca	9dd8e0bf-af83-43fa-baf9-c445c02c1014	g.chr3:133119336C>T	ENST00000302334.2	+	1	498	c.409C>T	c.(409-411)Cgg>Tgg	p.R137W		NM_003571.2	NP_003562.1	Q13515	BFSP2_HUMAN	beaded filament structural protein 2, phakinin	137	Rod.				response to stimulus|visual perception	cytoplasm|intermediate filament|membrane	structural constituent of cytoskeleton|structural constituent of eye lens			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|urinary_tract(1)	13						AACACAACTGCGGATGCACCT	0.607													18	28					0	0	0.043863	0	0	T	133119336	C	T	133119336	3	4	82	1	0	0	0	0	1	0	0	0	1415	759	27	1	411	1	BFSP2	3	133119336	Missense_Mutation	SNP	C	TCGA-DU-6393-01A-11D-1705-08	19049974	133119336	64903094	11	19255											
GPR98	84059	broad.mit.edu	37	5	90000251	90000251	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6393-01A-11D-1705-08	TCGA-DU-6393-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507dfb6e-244c-408c-a9e4-bce950ceadca	9dd8e0bf-af83-43fa-baf9-c445c02c1014	g.chr5:90000251A>T	ENST00000405460.2	+	36	8428	c.8332A>T	c.(8332-8334)Att>Ttt	p.I2778F		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	2778	Calx-beta 19.				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GGATGACAACATTCCTGAGGA	0.333													4	3					0	0	0.014758	0	0	T	90000251	A	T	90000251	3	4	82	1	0	0	0	0	1	0	0	0	6762	217	8	4	8474	4	GPR98	5	90000251	Missense_Mutation	SNP	A	TCGA-DU-6393-01A-11D-1705-08		90000251	90915009	12	19256											
FNIP1	96459	broad.mit.edu	37	5	131013435	131013435	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6393-01A-11D-1705-08	TCGA-DU-6393-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507dfb6e-244c-408c-a9e4-bce950ceadca	9dd8e0bf-af83-43fa-baf9-c445c02c1014	g.chr5:131013435C>T	ENST00000307968.7	-	12	1395	c.1396G>A	c.(1396-1398)Gca>Aca	p.A466T	FNIP1_ENST00000511848.1_Missense_Mutation_p.A494T|FNIP1_ENST00000510461.1_Missense_Mutation_p.A494T|FNIP1_ENST00000307954.8_Missense_Mutation_p.A449T|CTC-432M15.3_ENST00000514667.1_Intron	NM_001008738.2	NP_001008738			folliculin interacting protein 1											NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0665)		TGAGTCTTTGCCAACATGTCC	0.383													33	56					0	0	0.054565	0	0	T	131013435	C	T	131013435	3	4	82	1	0	0	0	0	1	0	0	0	6008	739	26	2	2044	2	FNIP1	5	131013435	Missense_Mutation	SNP	C	TCGA-DU-6393-01A-11D-1705-08	41013184	131013435	49901825	13	19257											
RELN	5649	broad.mit.edu	37	7	103180840	103180840	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6393-01A-11D-1705-08	TCGA-DU-6393-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507dfb6e-244c-408c-a9e4-bce950ceadca	9dd8e0bf-af83-43fa-baf9-c445c02c1014	g.chr7:103180840G>A	ENST00000428762.1	-	44	6893	c.6734C>T	c.(6733-6735)cCc>cTc	p.P2245L	RELN_ENST00000424685.2_Missense_Mutation_p.P2245L|RELN_ENST00000343529.5_Missense_Mutation_p.P2245L	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	2245					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		TAGGAGCACGGGTTGACTCCT	0.488													52	39					0	0	0.048971	0	0	A	103180840	G	A	103180840	3	1	82	1	0	0	0	0	1	0	0	0	13272	1232	43	2	3736	2	RELN	7	103180840	Missense_Mutation	SNP	G	TCGA-DU-6393-01A-11D-1705-08		103180840	55957823	14	19258											
KLF14	136259	broad.mit.edu	37	7	130418291	130418291	+	Silent	SNP	A	A	G			TCGA-DU-6393-01A-11D-1705-08	TCGA-DU-6393-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507dfb6e-244c-408c-a9e4-bce950ceadca	9dd8e0bf-af83-43fa-baf9-c445c02c1014	g.chr7:130418291A>G	ENST00000310992.4	-	1	597	c.570T>C	c.(568-570)ccT>ccC	p.P190P		NM_138693.2	NP_619638.2	Q8TD94	KLF14_HUMAN	Kruppel-like factor 14	190					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(3)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6	Melanoma(18;0.0435)					GCTTGGCAGCAGGTGTGACAG	0.701													7	9					0	0	0.02938	0	0	G	130418291	A	G	130418291	2	3	82	1	0	0	0	0	0	0	0	1	8385	175	7	3		3	KLF14	7	130418291	Silent	SNP	A	TCGA-DU-6393-01A-11D-1705-08	27237451	130418291	28720372	15	19259											
MKRN1	23608	broad.mit.edu	37	7	140154990	140154990	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6393-01A-11D-1705-08	TCGA-DU-6393-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507dfb6e-244c-408c-a9e4-bce950ceadca	9dd8e0bf-af83-43fa-baf9-c445c02c1014	g.chr7:140154990G>A	ENST00000255977.2	-	7	1365	c.1141C>T	c.(1141-1143)Cca>Tca	p.P381S	MKRN1_ENST00000437223.2_Missense_Mutation_p.P115S|MKRN1_ENST00000474576.1_Missense_Mutation_p.P317S	NM_013446.3	NP_038474.2	Q9UHC7	MKRN1_HUMAN	makorin ring finger protein 1	381							ligase activity|nucleic acid binding|protein binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	16	Melanoma(164;0.00956)					CCTCCAAATGGGCAGCTCCCA	0.483													8	135					0	0	0.069234	0	0	A	140154990	G	A	140154990	3	1	82	1	0	0	0	0	1	0	0	0	9654	1232	43	2	315	2	MKRN1	7	140154990	Missense_Mutation	SNP	G	TCGA-DU-6393-01A-11D-1705-08	9736699	140154990	18983673	16	19260											
EPHB6	2051	broad.mit.edu	37	7	142564303	142564303	+	Silent	SNP	G	G	A	rs111424188		TCGA-DU-6393-01A-11D-1705-08	TCGA-DU-6393-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507dfb6e-244c-408c-a9e4-bce950ceadca	9dd8e0bf-af83-43fa-baf9-c445c02c1014	g.chr7:142564303G>A	ENST00000392957.2	+	10	2314	c.1527G>A	c.(1525-1527)ccG>ccA	p.P509P	EPHB6_ENST00000411471.2_Silent_p.P232P|EPHB6_ENST00000442129.1_Silent_p.P509P	NM_004445.3	NP_004436.3	O15197	EPHB6_HUMAN	EPH receptor B6	509	Fibronectin type-III 2.					extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					TGTCCTGGCCGCAGCCCGACC	0.582													3	64					0	0	0.009096	0	0	A	142564303	G	A	142564303	2	1	82	1	0	0	0	0	0	0	0	1	5206	1074	38	1		1	EPHB6	7	142564303	Silent	SNP	G	TCGA-DU-6393-01A-11D-1705-08	2409313	142564303	16574360	17	19261											
SSPO	23145	broad.mit.edu	37	7	149499116	149499117	+	RNA	DEL	AT	AT	-	rs61047652		TCGA-DU-6393-01A-11D-1705-08	TCGA-DU-6393-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507dfb6e-244c-408c-a9e4-bce950ceadca	9dd8e0bf-af83-43fa-baf9-c445c02c1014	g.chr7:149499116_149499117delAT	ENST00000378016.2	+	0	7495							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CCCGGCCCCCATGCCCCTGCAG	0.703													8	4	---	---	---	---						-	149499117	AT	-	149499116	6	5	82	0	1	1	0	1	0	0	0	0	15245	232	8	0		0	SSPO	7	149499116	RNA	DEL	AT	TCGA-DU-6393-01A-11D-1705-08	6934813	149499116	9639547	18	19262											
PROSC	11212	broad.mit.edu	37	8	37623846	37623846	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-6393-01A-11D-1705-08	TCGA-DU-6393-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507dfb6e-244c-408c-a9e4-bce950ceadca	9dd8e0bf-af83-43fa-baf9-c445c02c1014	g.chr8:37623846C>G	ENST00000328195.3	+	4	359	c.292C>G	c.(292-294)Cag>Gag	p.Q98E		NM_007198.3	NP_009129.1	O94903	PROSC_HUMAN	proline synthetase co-transcribed homolog (bacterial)	98							pyridoxal phosphate binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|prostate(1)	7		Lung NSC(58;0.174)	BRCA - Breast invasive adenocarcinoma(5;6.14e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)		L-Proline(DB00172)|Pyridoxal Phosphate(DB00114)	TGGCCACCTACAGAAACAAAA	0.358													53	86					0	0	0.048971	0	0	G	37623846	C	G	37623846	3	3	82	1	0	0	0	0	1	0	0	0	12611	479	17	5	306	5	PROSC	8	37623846	Missense_Mutation	SNP	C	TCGA-DU-6393-01A-11D-1705-08		37623846	108740176	19	19263											
TNFRSF11B	4982	broad.mit.edu	37	8	119945444	119945444	+	Silent	SNP	G	G	A			TCGA-DU-6393-01A-11D-1705-08	TCGA-DU-6393-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507dfb6e-244c-408c-a9e4-bce950ceadca	9dd8e0bf-af83-43fa-baf9-c445c02c1014	g.chr8:119945444G>A	ENST00000297350.4	-	2	504	c.126C>T	c.(124-126)gaC>gaT	p.D42D		NM_002546.3	NP_002537.3	O00300	TR11B_HUMAN	tumor necrosis factor receptor superfamily, member 11b	42					apoptosis|skeletal system development		cytokine activity|receptor activity			breast(1)|central_nervous_system(3)|endometrium(4)|large_intestine(6)|lung(7)|prostate(3)|skin(1)	25	all_cancers(13;3.71e-26)|Lung NSC(37;1.69e-07)|Ovarian(258;0.018)|all_neural(195;0.0592)|Hepatocellular(40;0.234)		STAD - Stomach adenocarcinoma(47;0.00193)			GAGGACATTTGTCACACAACA	0.483													91	119					0	0	0.048971	0	0	A	119945444	G	A	119945444	2	1	82	1	0	0	0	0	0	0	0	1	16345	1368	48	2		2	TNFRSF11B	8	119945444	Silent	SNP	G	TCGA-DU-6393-01A-11D-1705-08	82321598	119945444	26418578	20	19264											
GLIS3	169792	broad.mit.edu	37	9	3829411	3829411	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-6393-01A-11D-1705-08	TCGA-DU-6393-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507dfb6e-244c-408c-a9e4-bce950ceadca	9dd8e0bf-af83-43fa-baf9-c445c02c1014	g.chr9:3829411C>G	ENST00000324333.10	-	9	2283	c.2090G>C	c.(2089-2091)aGt>aCt	p.S697T	GLIS3_ENST00000461870.1_5'UTR|GLIS3_ENST00000381971.3_Missense_Mutation_p.S852T	NM_152629.3	NP_689842.3	Q8NEA6	GLIS3_HUMAN	GLIS family zinc finger 3	697					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)		AGGCACCACACTGCAGGAGCT	0.542													38	1					0	0	0.074837	0	0	G	3829411	C	G	3829411	3	3	82	1	0	0	0	0	1	0	0	0	6489	565	20	4	245	4	GLIS3	9	3829411	Missense_Mutation	SNP	C	TCGA-DU-6393-01A-11D-1705-08		3829411	137384020	21	19265											
TAF1L	138474	broad.mit.edu	37	9	32630690	32630690	+	Silent	SNP	A	A	G			TCGA-DU-6393-01A-11D-1705-08	TCGA-DU-6393-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507dfb6e-244c-408c-a9e4-bce950ceadca	9dd8e0bf-af83-43fa-baf9-c445c02c1014	g.chr9:32630690A>G	ENST00000242310.4	-	1	4977	c.4888T>C	c.(4888-4890)Ttg>Ctg	p.L1630L		NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	1630					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		AGTTGAGTCAAATGCTCATCA	0.433													149	11					0	0	0.048971	0	0	G	32630690	A	G	32630690	2	3	82	1	0	0	0	0	0	0	0	1	15580	11	1	3		3	TAF1L	9	32630690	Silent	SNP	A	TCGA-DU-6393-01A-11D-1705-08	28801279	32630690	108582741	22	19266											
CRAT	1384	broad.mit.edu	37	9	131857756	131857756	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6393-01A-11D-1705-08	TCGA-DU-6393-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507dfb6e-244c-408c-a9e4-bce950ceadca	9dd8e0bf-af83-43fa-baf9-c445c02c1014	g.chr9:131857756C>T	ENST00000318080.2	-	14	2095	c.1801G>A	c.(1801-1803)Gcc>Acc	p.A601T		NM_000755.3|NM_001257363.1	NP_000746|NP_001244292.1	P43155	CACP_HUMAN	carnitine O-acetyltransferase	601					energy derivation by oxidation of organic compounds|fatty acid beta-oxidation using acyl-CoA oxidase|transport	endoplasmic reticulum|mitochondrial inner membrane|peroxisomal matrix	carnitine O-acetyltransferase activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(2)	13				UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)	L-Carnitine(DB00583)	GCCAGGCGGGCGGCGTTGGTC	0.667													15	19					0	0	0.028581	0	0	T	131857756	C	T	131857756	3	4	82	1	0	0	0	0	1	0	0	0	3870	768	27	1	83	1	CRAT	9	131857756	Missense_Mutation	SNP	C	TCGA-DU-6393-01A-11D-1705-08	99227066	131857756	9355675	23	19267											
QSER1	79832	broad.mit.edu	37	11	32955602	32955603	+	In_Frame_Ins	INS	-	-	ATT			TCGA-DU-6393-01A-11D-1705-08	TCGA-DU-6393-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507dfb6e-244c-408c-a9e4-bce950ceadca	9dd8e0bf-af83-43fa-baf9-c445c02c1014	g.chr11:32955602_32955603insATT	ENST00000399302.2	+	4	2746_2747	c.2411_2412insATT	c.(2410-2415)ccatta>ccATTatta	p.805_806insL	QSER1_ENST00000527788.1_In_Frame_Ins_p.566_567insL	NM_001076786.1	NP_001070254.1	Q2KHR3	QSER1_HUMAN	glutamine and serine rich 1	805										breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	48	Breast(20;0.158)					TCTTCAAAACCATTACAACAAC	0.376													39	112	---	---	---	---						ATT	32955603	-	ATT	32955602	7	5	82	1	0	1	1	0	0	0	0	0	12934	594	21	0	2417	0	QSER1	11	32955602	In_Frame_Ins	INS	-	TCGA-DU-6393-01A-11D-1705-08		32955602	102050914	24	19268											
OR10S1	219873	broad.mit.edu	37	11	123847515	123847515	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6393-01A-11D-1705-08	TCGA-DU-6393-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507dfb6e-244c-408c-a9e4-bce950ceadca	9dd8e0bf-af83-43fa-baf9-c445c02c1014	g.chr11:123847515G>A	ENST00000531945.1	-	1	973	c.884C>T	c.(883-885)cCa>cTa	p.P295L		NM_001004474.1	NP_001004474.1	Q8NGN2	O10S1_HUMAN	olfactory receptor, family 10, subfamily S, member 1	295					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	36		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		GTTGAGCATTGGAGTTACGAT	0.542													87	59					0	0	0.048971	0	0	A	123847515	G	A	123847515	3	1	82	1	0	0	0	0	1	0	0	0	10966	1348	47	2	115	2	OR10S1	11	123847515	Missense_Mutation	SNP	G	TCGA-DU-6393-01A-11D-1705-08	90891913	123847515	11159001	25	19269											
GRIN2B	2904	broad.mit.edu	37	12	13716187	13716187	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6393-01A-11D-1705-08	TCGA-DU-6393-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507dfb6e-244c-408c-a9e4-bce950ceadca	9dd8e0bf-af83-43fa-baf9-c445c02c1014	g.chr12:13716187G>A	ENST00000609686.1	-	13	4194	c.3985C>T	c.(3985-3987)Cga>Tga	p.R1329*		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B						response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TCCATGAATCGGCCCTTGTCT	0.597													28	31					0	0	0.034045	0	0	A	13716187	G	A	13716187	4	1	82	1	0	0	0	0	0	1	0	0	6821	1124	39	1	473	1	GRIN2B	12	13716187	Nonsense_Mutation	SNP	G	TCGA-DU-6393-01A-11D-1705-08		13716187	120135708	26	19270											
FRY	10129	broad.mit.edu	37	13	32869503	32869503	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6393-01A-11D-1705-08	TCGA-DU-6393-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507dfb6e-244c-408c-a9e4-bce950ceadca	9dd8e0bf-af83-43fa-baf9-c445c02c1014	g.chr13:32869503A>G	ENST00000380250.3	+	61	9444	c.8948A>G	c.(8947-8949)aAc>aGc	p.N2983S	FRY_ENST00000542859.1_Missense_Mutation_p.N353S|FRY_ENST00000380217.1_Missense_Mutation_p.N165S	NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	2983					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		ATGGAGCTGAACATGGAGATC	0.532													3	52					0	0	0.004672	0	0	G	32869503	A	G	32869503	3	3	82	1	0	0	0	0	1	0	0	0	6098	43	2	3	9190	3	FRY	13	32869503	Missense_Mutation	SNP	A	TCGA-DU-6393-01A-11D-1705-08		32869503	82300375	27	19271											
TUBGCP3	10426	broad.mit.edu	37	13	113140437	113140437	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6393-01A-11D-1705-08	TCGA-DU-6393-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507dfb6e-244c-408c-a9e4-bce950ceadca	9dd8e0bf-af83-43fa-baf9-c445c02c1014	g.chr13:113140437A>G	ENST00000261965.3	-	22	2780	c.2594T>C	c.(2593-2595)cTg>cCg	p.L865P		NM_006322.4	NP_006313.1	Q96CW5	GCP3_HUMAN	tubulin, gamma complex associated protein 3	865					G2/M transition of mitotic cell cycle|microtubule nucleation|single fertilization	centriole|cytosol|polar microtubule	gamma-tubulin binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|urinary_tract(1)	25	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)					GCTGGTCGTCAGTAACACCAA	0.473													2	9					0	0	0.004672	0	0	G	113140437	A	G	113140437	3	3	82	1	0	0	0	0	1	0	0	0	16829	188	7	3	133	3	TUBGCP3	13	113140437	Missense_Mutation	SNP	A	TCGA-DU-6393-01A-11D-1705-08	80270934	113140437	2029441	28	19272											
ADAM10	102	broad.mit.edu	37	15	58925546	58925546	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6393-01A-11D-1705-08	TCGA-DU-6393-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507dfb6e-244c-408c-a9e4-bce950ceadca	9dd8e0bf-af83-43fa-baf9-c445c02c1014	g.chr15:58925546C>T	ENST00000260408.3	-	9	1468	c.1025G>A	c.(1024-1026)gGa>gAa	p.G342E	ADAM10_ENST00000396140.2_Missense_Mutation_p.G41E|ADAM10_ENST00000561288.1_Intron|ADAM10_ENST00000402627.1_Missense_Mutation_p.G41E	NM_001110.2	NP_001101.1	O14672	ADA10_HUMAN	ADAM metallopeptidase domain 10	342	Peptidase M12B.				cell-cell signaling|constitutive protein ectodomain proteolysis|epidermal growth factor receptor signaling pathway|in utero embryonic development|integrin-mediated signaling pathway|monocyte activation|negative regulation of cell adhesion|Notch receptor processing|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of T cell chemotaxis|protein phosphorylation|response to tumor necrosis factor	cell surface|endomembrane system|Golgi-associated vesicle|integral to membrane|nucleus|plasma membrane	integrin binding|metalloendopeptidase activity|protein homodimerization activity|protein kinase binding|SH3 domain binding|zinc ion binding			breast(1)|endometrium(1)|kidney(5)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)	27				GBM - Glioblastoma multiforme(80;0.202)		TTCACATATTCCTCCAGAGCT	0.343													16	6					0	0	0.0333	0	0	T	58925546	C	T	58925546	3	4	82	1	0	0	0	0	1	0	0	0	233	855	30	2	1253	2	ADAM10	15	58925546	Missense_Mutation	SNP	C	TCGA-DU-6393-01A-11D-1705-08		58925546	43605846	29	19273											
ISL2	64843	broad.mit.edu	37	15	76630688	76630688	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6393-01A-11D-1705-08	TCGA-DU-6393-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507dfb6e-244c-408c-a9e4-bce950ceadca	9dd8e0bf-af83-43fa-baf9-c445c02c1014	g.chr15:76630688T>C	ENST00000290759.4	+	3	504	c.344T>C	c.(343-345)tTc>tCc	p.F115S		NM_145805.1	NP_665804.1	Q96A47	ISL2_HUMAN	ISL LIM homeobox 2	115	LIM zinc-binding 2.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|kidney(1)|lung(2)|ovary(1)|skin(1)	6						ATCGAGTGCTTCCGCTGCTCC	0.682													2	4					0	0	0.004672	0	0	C	76630688	T	C	76630688	3	2	82	1	0	0	0	0	1	0	0	0	7901	1783	62	3	354	3	ISL2	15	76630688	Missense_Mutation	SNP	T	TCGA-DU-6393-01A-11D-1705-08	17705142	76630688	25900704	30	19274											
HEATR3	55027	broad.mit.edu	37	16	50136288	50136288	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6393-01A-11D-1705-08	TCGA-DU-6393-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507dfb6e-244c-408c-a9e4-bce950ceadca	9dd8e0bf-af83-43fa-baf9-c445c02c1014	g.chr16:50136288C>T	ENST00000299192.7	+	14	2053	c.1862C>T	c.(1861-1863)tCg>tTg	p.S621L	RP11-429P3.5_ENST00000566770.1_RNA|HEATR3_ENST00000285767.4_Missense_Mutation_p.S535L	NM_182922.2	NP_891552.1	Q7Z4Q2	HEAT3_HUMAN	HEAT repeat containing 3	621							binding			cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						GAAAGAGCCTCGATTCAAATT	0.378													32	84					0	0	0.054565	0	0	T	50136288	C	T	50136288	3	4	82	1	0	0	0	0	1	0	0	0	7070	893	31	1	1916	1	HEATR3	16	50136288	Missense_Mutation	SNP	C	TCGA-DU-6393-01A-11D-1705-08		50136288	40218465	31	19275											
NOS2	4843	broad.mit.edu	37	17	26107803	26107803	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6393-01A-11D-1705-08	TCGA-DU-6393-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507dfb6e-244c-408c-a9e4-bce950ceadca	9dd8e0bf-af83-43fa-baf9-c445c02c1014	g.chr17:26107803C>T	ENST00000313735.6	-	9	1227	c.994G>A	c.(994-996)Gaa>Aaa	p.E332K		NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN	nitric oxide synthase 2, inducible	332					arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process	cytosol|nucleus	arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56					Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)	TTGGGATGTTCCATGGCCACC	0.597													15	26					0	0	0.024245	0	0	T	26107803	C	T	26107803	3	4	82	1	0	0	0	0	1	0	0	0	10590	864	30	2	2543	2	NOS2	17	26107803	Missense_Mutation	SNP	C	TCGA-DU-6393-01A-11D-1705-08		26107803	55087407	32	19276											
WNT3	7473	broad.mit.edu	37	17	44845704	44845704	+	Silent	SNP	G	G	A			TCGA-DU-6393-01A-11D-1705-08	TCGA-DU-6393-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507dfb6e-244c-408c-a9e4-bce950ceadca	9dd8e0bf-af83-43fa-baf9-c445c02c1014	g.chr17:44845704G>A	ENST00000225512.5	-	4	1212	c.1050C>T	c.(1048-1050)gaC>gaT	p.D350D		NM_030753.4	NP_110380.1	P56703	WNT3_HUMAN	wingless-type MMTV integration site family, member 3	350					canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|cellular response to retinoic acid|dorsal/ventral axis specification|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic pattern specification|head morphogenesis|hemopoietic stem cell proliferation|inner ear morphogenesis|limb bud formation|mammary gland epithelium development|mesoderm formation|midbrain-hindbrain boundary development|negative regulation of fat cell differentiation|positive regulation of cell proliferation|Spemann organizer formation at the anterior end of the primitive streak|Wnt receptor signaling pathway, calcium modulating pathway	early endosome|extracellular space|late endosome|membrane fraction|membrane raft|plasma membrane|proteinaceous extracellular matrix	frizzled binding|frizzled-2 binding|signal transducer activity			endometrium(2)|large_intestine(6)|lung(4)|prostate(1)	13			BRCA - Breast invasive adenocarcinoma(9;0.0257)			AGGTGTGCACGTCGTAGATGC	0.607													3	49					0	0	0.004672	0	0	A	44845704	G	A	44845704	2	1	82	1	0	0	0	0	0	0	0	1	17448	1136	40	1		1	WNT3	17	44845704	Silent	SNP	G	TCGA-DU-6393-01A-11D-1705-08	18737901	44845704	36349506	33	19277											
CACNA1G	8913	broad.mit.edu	37	17	48669423	48669423	+	Silent	SNP	C	C	T			TCGA-DU-6393-01A-11D-1705-08	TCGA-DU-6393-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507dfb6e-244c-408c-a9e4-bce950ceadca	9dd8e0bf-af83-43fa-baf9-c445c02c1014	g.chr17:48669423C>T	ENST00000352832.5	+	13	3252	c.2880C>T	c.(2878-2880)gtC>gtT	p.V960V	CACNA1G_ENST00000354983.4_Silent_p.V960V|CACNA1G_ENST00000429973.2_Silent_p.V960V|CACNA1G_ENST00000507510.2_Silent_p.V960V|CACNA1G_ENST00000502264.1_Silent_p.V960V|CACNA1G_ENST00000442258.2_Silent_p.V960V|CACNA1G_ENST00000513964.1_Silent_p.V960V|CACNA1G_ENST00000505165.1_Silent_p.V960V|CACNA1G_ENST00000503485.1_Silent_p.V960V|CACNA1G_ENST00000512389.1_Silent_p.V960V|CACNA1G_ENST00000360761.4_Silent_p.V960V|CACNA1G_ENST00000515411.1_Silent_p.V960V|CACNA1G_ENST00000514717.1_Silent_p.V960V|CACNA1G_ENST00000515165.1_Silent_p.V960V|CACNA1G_ENST00000514181.1_Silent_p.V960V|CACNA1G_ENST00000514079.1_Silent_p.V960V|CACNA1G_ENST00000359106.5_Silent_p.V960V|CACNA1G_ENST00000507609.1_Silent_p.V960V|CACNA1G_ENST00000513689.2_Silent_p.V960V|CACNA1G_ENST00000507336.1_Silent_p.V960V|CACNA1G_ENST00000510115.1_Silent_p.V960V|CACNA1G_ENST00000515765.1_Silent_p.V960V|CACNA1G_ENST00000507896.1_Silent_p.V960V|CACNA1G_ENST00000358244.5_Silent_p.V960V|CACNA1G_ENST00000416767.4_Silent_p.V960V|CACNA1G_ENST00000510366.1_Silent_p.V960V	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	960					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	ATTTGCTGGTCGCCATTCTGG	0.572													15	20					0	0	0.038395	0	0	T	48669423	C	T	48669423	2	4	82	1	0	0	0	0	0	0	0	1	2562	871	31	1		1	CACNA1G	17	48669423	Silent	SNP	C	TCGA-DU-6393-01A-11D-1705-08	3823719	48669423	32525787	34	19278											
SDK2	54549	broad.mit.edu	37	17	71429886	71429886	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6393-01A-11D-1705-08	TCGA-DU-6393-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507dfb6e-244c-408c-a9e4-bce950ceadca	9dd8e0bf-af83-43fa-baf9-c445c02c1014	g.chr17:71429886T>C	ENST00000392650.3	-	10	1297	c.1297A>G	c.(1297-1299)Atc>Gtc	p.I433V	SDK2_ENST00000388726.3_Missense_Mutation_p.I433V	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	433	Ig-like C2-type 5.				cell adhesion	integral to membrane				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						TGCCAAGTGATAGCTGGTCGG	0.577													3	5					0	0	0.004672	0	0	C	71429886	T	C	71429886	3	2	82	1	0	0	0	0	1	0	0	0	14023	1406	49	3	5365	3	SDK2	17	71429886	Missense_Mutation	SNP	T	TCGA-DU-6393-01A-11D-1705-08	22760463	71429886	9765324	35	19279											
CIC	23152	broad.mit.edu	37	19	42796321	42796322	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-DU-6393-01A-11D-1705-08	TCGA-DU-6393-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507dfb6e-244c-408c-a9e4-bce950ceadca	9dd8e0bf-af83-43fa-baf9-c445c02c1014	g.chr19:42796321_42796322delCT	ENST00000572681.2	+	13	5765_5766	c.5697_5698delCT	c.(5695-5700)acctctfs	p.S1900fs	CIC_ENST00000575354.2_Frame_Shift_Del_p.S991fs|CIC_ENST00000160740.3_Frame_Shift_Del_p.S991fs			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	991					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CTGGACCCACCTCTCAGCCTCA	0.663			"Mis, F, S"		oligodendroglioma								24	9	---	---	---	---						-	42796322	CT	-	42796321	7	5	82	1	0	1	0	1	0	0	0	0	3446	668	24	0	3016	0	CIC	19	42796321	Frame_Shift_Del	DEL	CT	TCGA-DU-6393-01A-11D-1705-08		42796321	16332662	36	19280											
XRN2	22803	broad.mit.edu	37	20	21328891	21328891	+	Splice_Site	SNP	G	G	A			TCGA-DU-6393-01A-11D-1705-08	TCGA-DU-6393-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507dfb6e-244c-408c-a9e4-bce950ceadca	9dd8e0bf-af83-43fa-baf9-c445c02c1014	g.chr20:21328891G>A	ENST00000377191.3	+	18	1868	c.1773G>A	c.(1771-1773)ccG>ccA	p.P591P	XRN2_ENST00000430571.2_Splice_Site_p.P515P|XRN2_ENST00000539513.1_Splice_Site_p.P537P	NM_012255.3	NP_036387.2	Q9H0D6	XRN2_HUMAN	5'-3' exoribonuclease 2	591					cell growth|DNA catabolic process, exonucleolytic|mRNA processing|regulation of transcription, DNA-dependent|RNA catabolic process|spermatogenesis|transcription termination, DNA-dependent	nucleolus	5'-3' exoribonuclease activity|nucleic acid binding|protein binding|zinc ion binding			endometrium(5)|kidney(6)|large_intestine(10)|lung(12)|ovary(1)|skin(5)	39						GTACGAAACCGGTAAGCTTAA	0.338													3	73					0	0	0.004672	0	0	A	21328891	G	A	21328891	5	1	82	1	0	0	0	0	0	0	1	0	17520	1130	39	1	1843	1	XRN2	20	21328891	Splice_Site	SNP	G	TCGA-DU-6393-01A-11D-1705-08		21328891	41696629	37	19281											
KRTAP10-10	353333	broad.mit.edu	37	21	46057415	46057415	+	Silent	SNP	C	C	T			TCGA-DU-6393-01A-11D-1705-08	TCGA-DU-6393-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507dfb6e-244c-408c-a9e4-bce950ceadca	9dd8e0bf-af83-43fa-baf9-c445c02c1014	g.chr21:46057415C>T	ENST00000380095.1	+	1	143	c.81C>T	c.(79-81)tgC>tgT	p.C27C	TSPEAR_ENST00000323084.4_Intron	NM_181688.1	NP_859016.1	P60014	KR10A_HUMAN	keratin associated protein 10-10	27	15 X 5 AA repeats of C-C-X(3).					keratin filament				NS(1)|endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2)	13						AGAGCTGCTGCGAGCCCTGCT	0.682													50	77					0	0	0.048971	0	0	T	46057415	C	T	46057415	2	4	82	1	0	0	0	0	0	0	0	1	8549	776	27	1		1	KRTAP10-10	21	46057415	Silent	SNP	C	TCGA-DU-6393-01A-11D-1705-08		46057415	2072480	38	19282											
CABIN1	23523	broad.mit.edu	37	22	24567940	24567940	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6393-01A-11D-1705-08	TCGA-DU-6393-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507dfb6e-244c-408c-a9e4-bce950ceadca	9dd8e0bf-af83-43fa-baf9-c445c02c1014	g.chr22:24567940C>T	ENST00000398319.2	+	34	6402	c.6017C>T	c.(6016-6018)cCc>cTc	p.P2006L	CABIN1_ENST00000485008.1_3'UTR|CABIN1_ENST00000337989.7_Missense_Mutation_p.P431L|CABIN1_ENST00000405822.2_Missense_Mutation_p.P1927L|CABIN1_ENST00000263119.5_Missense_Mutation_p.P2006L	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	2006					cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						GAAGCTACCCCCAGCATGGCC	0.647													10	13					0	0	0.058154	0	0	T	24567940	C	T	24567940	3	4	82	1	0	0	0	0	1	0	0	0	2546	623	22	2	6147	2	CABIN1	22	24567940	Missense_Mutation	SNP	C	TCGA-DU-6393-01A-11D-1705-08		24567940	26736626	39	19283											
PCDH11Y	83259	broad.mit.edu	37	Y	5605958	5605958	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6393-01A-11D-1705-08	TCGA-DU-6393-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507dfb6e-244c-408c-a9e4-bce950ceadca	9dd8e0bf-af83-43fa-baf9-c445c02c1014	g.chrY:5605958C>T	ENST00000215473.6	+	6	3998	c.3998C>T	c.(3997-3999)cCc>cTc	p.P1333L				Q9BZA8	PC11Y_HUMAN	protocadherin 11 Y-linked	1333					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						GGTGATTCCCCCATTATGGAA	0.373													54	5					0	0	0.048971	0	0	T	5605958	C	T	5605958	3	4	82	1	0	0	0	0	1	0	0	0	11556	623	22	2	4074	2	PCDH11Y	24	5605958	Missense_Mutation	SNP	C	TCGA-DU-6393-01A-11D-1705-08		5605958	53767608	40	19284											
FUBP1	8880	broad.mit.edu	37	1	78433848	78433851	+	Splice_Site	DEL	CAGT	CAGT	-			TCGA-DU-6394-01A-11D-1705-08	TCGA-DU-6394-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	611b0bd5-fb3a-4c10-999c-e4b3f6980d0b	d7371b5d-ee62-450e-bc22-082b1de3911b	g.chr1:78433848_78433851delCAGT	ENST00000370767.1	-	3	335_338	c.248_251delACTG	c.(247-252)gactgt>gt	p.DC83fs	FUBP1_ENST00000436586.2_Splice_Site_p.DC104fs|FUBP1_ENST00000370768.2_Splice_Site_p.DC83fs			Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1	83					transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding	p.?(1)		central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						GGAATACTTACAGTCATTTTGAGG	0.319			"F, N"		oligodendroglioma								20	11	---	---	---	---						-	78433851	CAGT	-	78433848	8	5	83	1	0	1	0	1	0	0	1	0	6127	492	17	0	1755	0	FUBP1	1	78433848	Splice_Site	DEL	CAGT	TCGA-DU-6394-01A-11D-1705-08		78433848	170816773	1	19285											
ITLN1	55600	broad.mit.edu	37	1	160850421	160850421	+	Silent	SNP	G	G	A			TCGA-DU-6394-01A-11D-1705-08	TCGA-DU-6394-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	611b0bd5-fb3a-4c10-999c-e4b3f6980d0b	d7371b5d-ee62-450e-bc22-082b1de3911b	g.chr1:160850421G>A	ENST00000326245.3	-	6	757	c.642C>T	c.(640-642)ggC>ggT	p.G214G	ITLN1_ENST00000487531.1_5'UTR	NM_017625.2	NP_060095.2	Q8WWA0	ITLN1_HUMAN	intelectin 1 (galactofuranose binding)	214	Fibrinogen C-terminal.				positive regulation of glucose import|positive regulation of protein phosphorylation|response to nematode|signal transduction	anchored to membrane|brush border membrane|extracellular region|membrane raft	receptor binding|sugar binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	21	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			TCTGGGCGTCGCCAAAATCAT	0.443													7	261					0	0	1	0	0	A	160850421	G	A	160850421	2	1	83	1	0	0	0	0	0	0	0	1	7954	1074	38	1		1	ITLN1	1	160850421	Silent	SNP	G	TCGA-DU-6394-01A-11D-1705-08	82416573	160850421	88400200	2	19286											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-DU-6394-01A-11D-1705-08	TCGA-DU-6394-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	611b0bd5-fb3a-4c10-999c-e4b3f6980d0b	d7371b5d-ee62-450e-bc22-082b1de3911b	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	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								22	51					0	0	1	0	0	T	209113112	C	T	209113112	3	4	83	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-DU-6394-01A-11D-1705-08		209113112	34086261	3	19287											
HGD	3081	broad.mit.edu	37	3	120357338	120357338	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DU-6394-01A-11D-1705-08	TCGA-DU-6394-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	611b0bd5-fb3a-4c10-999c-e4b3f6980d0b	d7371b5d-ee62-450e-bc22-082b1de3911b	g.chr3:120357338delC	ENST00000283871.5	-	12	1429	c.970delG	c.(970-972)gttfs	p.V324fs		NM_000187.3	NP_000178.2	Q93099	HGD_HUMAN	homogentisate 1,2-dioxygenase	324					L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	homogentisate 1,2-dioxygenase activity|metal ion binding			cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)	25				GBM - Glioblastoma multiforme(114;0.158)		TTATCAGCAACCCCCCATCGA	0.483													23	94	---	---	---	---						-	120357338	C	-	120357338	7	5	83	1	0	1	0	1	0	0	0	0	7125	507	18	0	379	0	HGD	3	120357338	Frame_Shift_Del	DEL	C	TCGA-DU-6394-01A-11D-1705-08		120357338	77665092	4	19288											
SMC4	10051	broad.mit.edu	37	3	160137299	160137299	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6394-01A-11D-1705-08	TCGA-DU-6394-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	611b0bd5-fb3a-4c10-999c-e4b3f6980d0b	d7371b5d-ee62-450e-bc22-082b1de3911b	g.chr3:160137299T>A	ENST00000357388.3	+	12	2276	c.1825T>A	c.(1825-1827)Tct>Act	p.S609T	RP11-432B6.3_ENST00000483754.1_Intron|SMC4_ENST00000360111.2_Missense_Mutation_p.S609T|SMC4_ENST00000469762.1_Missense_Mutation_p.S584T|SMC4_ENST00000462787.1_Missense_Mutation_p.S609T|SMC4_ENST00000344722.5_Missense_Mutation_p.S609T	NM_001002800.1	NP_001002800.1	Q9NTJ3	SMC4_HUMAN	structural maintenance of chromosomes 4	609	Flexible hinge.				cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	ATP binding|protein heterodimerization activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			AGAAAAAAAATCTGGCAGGAT	0.343													35	53					0	0	1	0	0	A	160137299	T	A	160137299	3	1	83	1	0	0	0	0	1	0	0	0	14839	1435	50	4	1867	4	SMC4	3	160137299	Missense_Mutation	SNP	T	TCGA-DU-6394-01A-11D-1705-08	39779961	160137299	37885131	5	19289											
TXK	7294	broad.mit.edu	37	4	48114404	48114404	+	Silent	SNP	A	A	G			TCGA-DU-6394-01A-11D-1705-08	TCGA-DU-6394-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	611b0bd5-fb3a-4c10-999c-e4b3f6980d0b	d7371b5d-ee62-450e-bc22-082b1de3911b	g.chr4:48114404A>G	ENST00000264316.4	-	4	385	c.300T>C	c.(298-300)aaT>aaC	p.N100N	TXK_ENST00000510457.1_5'UTR	NM_003328.2	NP_003319.2	P42681	TXK_HUMAN	TXK tyrosine kinase	100	SH3.					cytoplasm	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(2)	25						TTAAGGCTAAATTACAGGGTT	0.468													26	136					0	0	1	0	0	G	48114404	A	G	48114404	2	3	83	1	0	0	0	0	0	0	0	1	16848	98	4	3		3	TXK	4	48114404	Silent	SNP	A	TCGA-DU-6394-01A-11D-1705-08		48114404	143039872	6	19290											
WDFY3	23001	broad.mit.edu	37	4	85731329	85731331	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-DU-6394-01A-11D-1705-08	TCGA-DU-6394-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	611b0bd5-fb3a-4c10-999c-e4b3f6980d0b	d7371b5d-ee62-450e-bc22-082b1de3911b	g.chr4:85731329_85731331delGAA	ENST00000322366.6	-	14	2461_2463	c.2054_2056delTTC	c.(2053-2058)cttcac>cac	p.L685del	WDFY3-AS1_ENST00000510449.1_RNA|WDFY3_ENST00000295888.4_In_Frame_Del_p.L685del			Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	685						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		AACACAGTGTGAAGAAGTTCAAA	0.448													28	51	---	---	---	---						-	85731331	GAA	-	85731329	7	5	83	1	0	1	0	1	0	0	0	0	17330	1290	45	0	8787	0	WDFY3	4	85731329	In_Frame_Del	DEL	GAA	TCGA-DU-6394-01A-11D-1705-08	37616925	85731329	105422947	7	19291											
NPY1R	4886	broad.mit.edu	37	4	164247119	164247119	+	Silent	SNP	G	G	A			TCGA-DU-6394-01A-11D-1705-08	TCGA-DU-6394-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	611b0bd5-fb3a-4c10-999c-e4b3f6980d0b	d7371b5d-ee62-450e-bc22-082b1de3911b	g.chr4:164247119G>A	ENST00000296533.2	-	2	1119	c.588C>T	c.(586-588)taC>taT	p.Y196Y	NPY1R_ENST00000509586.1_Intron	NM_000909.5	NP_000900.1	P25929	NPY1R_HUMAN	neuropeptide Y receptor Y1	196					inhibition of adenylate cyclase activity by G-protein signaling pathway|outflow tract morphogenesis	integral to plasma membrane	protein binding			breast(1)|cervix(1)|large_intestine(4)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)	30	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				CAAAGCACACGTATTTGTCTT	0.408													35	35					0	0	1	0	0	A	164247119	G	A	164247119	2	1	83	1	0	0	0	0	0	0	0	1	10656	1140	40	1		1	NPY1R	4	164247119	Silent	SNP	G	TCGA-DU-6394-01A-11D-1705-08	78515790	164247119	26907157	8	19292											
FAM149A	25854	broad.mit.edu	37	4	187084676	187084678	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-DU-6394-01A-11D-1705-08	TCGA-DU-6394-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	611b0bd5-fb3a-4c10-999c-e4b3f6980d0b	d7371b5d-ee62-450e-bc22-082b1de3911b	g.chr4:187084676_187084678delCTT	ENST00000356371.5	+	10	1805_1807	c.1805_1807delCTT	c.(1804-1809)ccttct>cct	p.S603del	FAM149A_ENST00000503432.1_In_Frame_Del_p.S312del|FAM149A_ENST00000502970.1_In_Frame_Del_p.S312del|FAM149A_ENST00000389354.5_In_Frame_Del_p.S312del|FAM149A_ENST00000227065.4_In_Frame_Del_p.S312del|FAM149A_ENST00000514153.1_In_Frame_Del_p.S312del			A5PLN7	F149A_HUMAN	family with sequence similarity 149, member A	603										breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(2)	25		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.19e-10)|BRCA - Breast invasive adenocarcinoma(30;1.22e-05)|GBM - Glioblastoma multiforme(59;0.000122)|STAD - Stomach adenocarcinoma(60;0.000288)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.166)		GGATTATCACCTTCTGCAAAGAA	0.532													10	76	---	---	---	---						-	187084678	CTT	-	187084676	7	5	83	1	0	1	0	1	0	0	0	0	5485	681	24	0	958	0	FAM149A	4	187084676	In_Frame_Del	DEL	CTT	TCGA-DU-6394-01A-11D-1705-08	22837557	187084676	4069600	9	19293											
PLEKHG4B	153478	broad.mit.edu	37	5	143249	143249	+	Missense_Mutation	SNP	G	G	A	rs115149634	byFrequency	TCGA-DU-6394-01A-11D-1705-08	TCGA-DU-6394-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	611b0bd5-fb3a-4c10-999c-e4b3f6980d0b	d7371b5d-ee62-450e-bc22-082b1de3911b	g.chr5:143249G>A	ENST00000283426.6	+	2	547	c.497G>A	c.(496-498)cGg>cAg	p.R166Q		NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4B	166					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		GTGCCTGCCCGGCAGCCACAC	0.647													18	52					0	0	1	0	0	A	143249	G	A	143249	3	1	83	1	0	0	0	0	1	0	0	0	12120	1116	39	1	503	1	PLEKHG4B	5	143249	Missense_Mutation	SNP	G	TCGA-DU-6394-01A-11D-1705-08		143249	180772011	10	19294											
ZDHHC11	79844	broad.mit.edu	37	5	814876	814876	+	Splice_Site	SNP	C	C	G	rs138424733		TCGA-DU-6394-01A-11D-1705-08	TCGA-DU-6394-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	611b0bd5-fb3a-4c10-999c-e4b3f6980d0b	d7371b5d-ee62-450e-bc22-082b1de3911b	g.chr5:814876C>G	ENST00000283441.8	-	11	1564	c.1181G>C	c.(1180-1182)gGg>gCg	p.G394A	ZDHHC11_ENST00000503758.2_5'UTR|ZDHHC11_ENST00000424784.2_Splice_Site_p.G394A	NM_024786.2	NP_079062.1	Q9H8X9	ZDH11_HUMAN	zinc finger, DHHC-type containing 11	394						integral to membrane	acyltransferase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(10)|pancreas(1)|prostate(5)|skin(2)|urinary_tract(1)	21			Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863)			ACGAACTTACCCAAGTGTAGA	0.378													25	31					0	0	1	0	0	G	814876	C	G	814876	5	3	83	1	0	0	0	0	0	0	1	0	17659	637	22	5	65	5	ZDHHC11	5	814876	Splice_Site	SNP	C	TCGA-DU-6394-01A-11D-1705-08	671627	814876	180100384	11	19295											
PIK3R1	5295	broad.mit.edu	37	5	67591105	67591107	+	In_Frame_Del	DEL	TAA	TAA	-			TCGA-DU-6394-01A-11D-1705-08	TCGA-DU-6394-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	611b0bd5-fb3a-4c10-999c-e4b3f6980d0b	d7371b5d-ee62-450e-bc22-082b1de3911b	g.chr5:67591105_67591107delTAA	ENST00000521381.1	+	13	2314_2316	c.1698_1700delTAA	c.(1696-1701)attaaa>ata	p.K567del	PIK3R1_ENST00000396611.1_In_Frame_Del_p.K567del|PIK3R1_ENST00000523872.1_In_Frame_Del_p.K204del|PIK3R1_ENST00000320694.8_In_Frame_Del_p.K267del|PIK3R1_ENST00000336483.5_In_Frame_Del_p.K297del|PIK3R1_ENST00000521657.1_In_Frame_Del_p.K567del|PIK3R1_ENST00000274335.5_In_Frame_Del_p.K567del	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	567					epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.K267_L270delKPDL(1)|p.0?(1)|p.?(1)|p.K297E(1)|p.K567_L570delKPDL(1)|p.K567E(1)|p.K267E(1)|p.K297_L300delKPDL(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	TGAACAGCATTAAACCAGACCTT	0.369			"Mis, F, O"		"gliobastoma, ovarian, colorectal"					TCGA GBM(4;<1E-08)			16	108	---	---	---	---						-	67591107	TAA	-	67591105	7	5	83	1	0	1	0	1	0	0	0	0	11966	1742	61	0	1874	0	PIK3R1	5	67591105	In_Frame_Del	DEL	TAA	TCGA-DU-6394-01A-11D-1705-08	66776229	67591105	113324155	12	19296											
MAN2A1	4124	broad.mit.edu	37	5	109049430	109049433	+	Frame_Shift_Del	DEL	CTGT	CTGT	-			TCGA-DU-6394-01A-11D-1705-08	TCGA-DU-6394-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	611b0bd5-fb3a-4c10-999c-e4b3f6980d0b	d7371b5d-ee62-450e-bc22-082b1de3911b	g.chr5:109049430_109049433delCTGT	ENST00000261483.4	+	2	1397_1400	c.345_348delCTGT	c.(343-348)gactgtfs	p.DC115fs		NM_002372.2	NP_002363.2	Q16706	MA2A1_HUMAN	mannosidase, alpha, class 2A, member 1	115					mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)		ACACTGCAGACTGTCTGTTTGCTT	0.407													38	135	---	---	---	---						-	109049433	CTGT	-	109049430	7	5	83	1	0	1	0	1	0	0	0	0	9264	564	20	0	351	0	MAN2A1	5	109049430	Frame_Shift_Del	DEL	CTGT	TCGA-DU-6394-01A-11D-1705-08	41458325	109049430	71865830	13	19297											
DNAH8	1769	broad.mit.edu	37	6	38690599	38690599	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6394-01A-11D-1705-08	TCGA-DU-6394-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	611b0bd5-fb3a-4c10-999c-e4b3f6980d0b	d7371b5d-ee62-450e-bc22-082b1de3911b	g.chr6:38690599C>T	ENST00000449981.2	+	2	123	c.14C>T	c.(13-15)gCt>gTt	p.A5V						dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						GAGAAGGATGCTGAAGATGGC	0.532													9	13					0	0	1	0	0	T	38690599	C	T	38690599	3	4	83	1	0	0	0	0	1	0	0	0	4634	812	28	2		2	DNAH8	6	38690599	Missense_Mutation	SNP	C	TCGA-DU-6394-01A-11D-1705-08		38690599	132424468	14	19298											
HDAC2	3066	broad.mit.edu	37	6	114277842	114277844	+	In_Frame_Del	DEL	TCT	TCT	-			TCGA-DU-6394-01A-11D-1705-08	TCGA-DU-6394-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	611b0bd5-fb3a-4c10-999c-e4b3f6980d0b	d7371b5d-ee62-450e-bc22-082b1de3911b	g.chr6:114277842_114277844delTCT	ENST00000519065.1	-	4	673_675	c.297_299delAGA	c.(295-300)gaagat>gat	p.E99del	HDAC2_ENST00000398283.2_In_Frame_Del_p.E193del|HDAC2_ENST00000519108.1_In_Frame_Del_p.E69del|HDAC2_ENST00000368632.2_In_Frame_Del_p.E69del			Q92769	HDAC2_HUMAN	histone deacetylase 2	99	Histone deacetylase.				blood coagulation|dendrite development|embryonic digit morphogenesis|epidermal cell differentiation|eyelid development in camera-type eye|fungiform papilla formation|hair follicle placode formation|maintenance of chromatin silencing|negative regulation of apoptosis|negative regulation of cell cycle|negative regulation of neuron projection development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|odontogenesis of dentine-containing tooth|positive regulation of cell proliferation|positive regulation of proteolysis|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|ESC/E(Z) complex|NuRD complex|Sin3 complex	chromatin binding|enzyme binding|histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|sequence-specific DNA binding|transcription factor binding			biliary_tract(1)|central_nervous_system(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(2)	27		all_cancers(87;0.000629)|all_epithelial(87;0.00274)|Colorectal(196;0.0317)|all_lung(197;0.24)		all cancers(137;0.00318)|OV - Ovarian serous cystadenocarcinoma(136;0.00569)|Epithelial(106;0.0112)|GBM - Glioblastoma multiforme(226;0.0832)	Vorinostat(DB02546)	CACTGGACAATCTTCTCCAACAT	0.35													15	16	---	---	---	---						-	114277844	TCT	-	114277842	7	5	83	1	0	1	0	1	0	0	0	0	7048	1435	50	0	1211	0	HDAC2	6	114277842	In_Frame_Del	DEL	TCT	TCGA-DU-6394-01A-11D-1705-08	75587243	114277842	56837225	15	19299											
THEMIS	387357	broad.mit.edu	37	6	128135074	128135074	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6394-01A-11D-1705-08	TCGA-DU-6394-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	611b0bd5-fb3a-4c10-999c-e4b3f6980d0b	d7371b5d-ee62-450e-bc22-082b1de3911b	g.chr6:128135074G>A	ENST00000368250.1	-	5	973	c.475C>T	c.(475-477)Cga>Tga	p.R159*	THEMIS_ENST00000368248.2_Nonsense_Mutation_p.R238*|THEMIS_ENST00000537166.1_Nonsense_Mutation_p.R203*|THEMIS_ENST00000543064.1_Nonsense_Mutation_p.R238*			Q8N1K5	THMS1_HUMAN	thymocyte selection associated	238	CABIT 1.				negative T cell selection|positive T cell selection|T cell receptor signaling pathway	cytoplasm|nucleus				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						ATATCTTTTCGAACTAAAAAG	0.333													37	53					0	0	1	0	0	A	128135074	G	A	128135074	4	1	83	1	0	0	0	0	0	1	0	0	15920	1066	37	1	1346	1	THEMIS	6	128135074	Nonsense_Mutation	SNP	G	TCGA-DU-6394-01A-11D-1705-08	13857232	128135074	42979993	16	19300											
GTF2IRD1	9569	broad.mit.edu	37	7	74016720	74016720	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6394-01A-11D-1705-08	TCGA-DU-6394-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	611b0bd5-fb3a-4c10-999c-e4b3f6980d0b	d7371b5d-ee62-450e-bc22-082b1de3911b	g.chr7:74016720C>T	ENST00000265755.3	+	27	3233	c.2840C>T	c.(2839-2841)gCc>gTc	p.A947V	GTF2IRD1_ENST00000455841.2_Missense_Mutation_p.A964V|GTF2IRD1_ENST00000424337.2_Missense_Mutation_p.A932V|GTF2IRD1_ENST00000476977.1_3'UTR	NM_005685.3|NM_016328.2	NP_005676.3|NP_057412.1	Q9UHL9	GT2D1_HUMAN	GTF2I repeat domain containing 1	947						nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(19)|ovary(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						GTGGACTATGCCGGCCTGAAC	0.468													3	80					0	0	1	0	0	T	74016720	C	T	74016720	3	4	83	1	0	0	0	0	1	0	0	0	6909	739	26	2	2942	2	GTF2IRD1	7	74016720	Missense_Mutation	SNP	C	TCGA-DU-6394-01A-11D-1705-08		74016720	85121943	17	19301											
ZAN	7455	broad.mit.edu	37	7	100369720	100369721	+	RNA	INS	-	-	T			TCGA-DU-6394-01A-11D-1705-08	TCGA-DU-6394-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	611b0bd5-fb3a-4c10-999c-e4b3f6980d0b	d7371b5d-ee62-450e-bc22-082b1de3911b	g.chr7:100369720_100369721insT	ENST00000542585.1	+	0	5573				ZAN_ENST00000538115.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000443370.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			cctctaaattcttttttttttt	0.535													4	7	---	---	---	---						T	100369721	-	T	100369720	6	5	83	0	1	1	1	0	0	0	0	0	17573	928	32	0		0	ZAN	7	100369720	RNA	INS	-	TCGA-DU-6394-01A-11D-1705-08	26353000	100369720	58768943	18	19302											
MAPK15	225689	broad.mit.edu	37	8	144801230	144801230	+	Frame_Shift_Del	DEL	T	T	-	rs139710965	byFrequency	TCGA-DU-6394-01A-11D-1705-08	TCGA-DU-6394-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	611b0bd5-fb3a-4c10-999c-e4b3f6980d0b	d7371b5d-ee62-450e-bc22-082b1de3911b	g.chr8:144801230delT	ENST00000338033.4	+	6	604	c.485delT	c.(484-486)ctgfs	p.L162fs	MAPK15_ENST00000395107.4_Frame_Shift_Del_p.L179fs|MAPK15_ENST00000395108.2_Frame_Shift_Del_p.L162fs	NM_139021.2	NP_620590.2	Q8TD08	MK15_HUMAN	mitogen-activated protein kinase 15	162	Protein kinase.				protein autophosphorylation	extracellular region	ATP binding|MAP kinase activity|SH3 domain binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|stomach(1)	12	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			GCCCGCTCCCTGGGCGACCTC	0.667													2	4	---	---	---	---						-	144801230	T	-	144801230	7	5	83	1	0	1	0	1	0	0	0	0	9327	1580	55	0	507	0	MAPK15	8	144801230	Frame_Shift_Del	DEL	T	TCGA-DU-6394-01A-11D-1705-08		144801230	1562792	19	19303											
ZNF782	158431	broad.mit.edu	37	9	99581580	99581580	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-6394-01A-11D-1705-08	TCGA-DU-6394-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	611b0bd5-fb3a-4c10-999c-e4b3f6980d0b	d7371b5d-ee62-450e-bc22-082b1de3911b	g.chr9:99581580G>C	ENST00000481138.1	-	6	1386	c.725C>G	c.(724-726)tCt>tGt	p.S242C	ZNF782_ENST00000535338.1_Missense_Mutation_p.S110C	NM_001001662.1	NP_001001662.1	Q6ZMW2	ZN782_HUMAN	zinc finger protein 782	242					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(8)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)	33		Acute lymphoblastic leukemia(62;0.0527)				GAAATTGTAAGATTTTCCTTT	0.333													7	85					0	0	1	0	0	C	99581580	G	C	99581580	3	2	83	1	0	0	0	0	1	0	0	0	18204	942	33	4	1378	4	ZNF782	9	99581580	Missense_Mutation	SNP	G	TCGA-DU-6394-01A-11D-1705-08		99581580	41631851	20	19304											
OR1J2	26740	broad.mit.edu	37	9	125273992	125273992	+	Silent	SNP	C	C	A			TCGA-DU-6394-01A-11D-1705-08	TCGA-DU-6394-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	611b0bd5-fb3a-4c10-999c-e4b3f6980d0b	d7371b5d-ee62-450e-bc22-082b1de3911b	g.chr9:125273992C>A	ENST00000335302.5	+	1	912	c.912C>A	c.(910-912)ctC>ctA	p.L304L		NM_054107.1	NP_473448.1	Q8NGS2	OR1J2_HUMAN	olfactory receptor, family 1, subfamily J, member 2	304					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(7)|stomach(1)	26						TTGGGAAACTCTTCAGTAGAG	0.383													5	77					0.217242	0.22218	1	1	0	A	125273992	C	A	125273992	2	1	83	1	0	0	0	0	0	0	0	1	11008	900	32	4		4	OR1J2	9	125273992	Silent	SNP	C	TCGA-DU-6394-01A-11D-1705-08	25692412	125273992	15939439	21	19305											
NOTCH1	4851	broad.mit.edu	37	9	139391997	139391998	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-DU-6394-01A-11D-1705-08	TCGA-DU-6394-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	611b0bd5-fb3a-4c10-999c-e4b3f6980d0b	d7371b5d-ee62-450e-bc22-082b1de3911b	g.chr9:139391997_139391998delAG	ENST00000277541.6	-	34	6268_6269	c.6193_6194delCT	c.(6193-6195)ctgfs	p.L2065fs		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	2065					aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GGCCAGAAACAGGGGTGTCTCC	0.683			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			17	14	---	---	---	---						-	139391998	AG	-	139391997	7	5	83	1	0	1	0	1	0	0	0	0	10594	188	7	0	1477	0	NOTCH1	9	139391997	Frame_Shift_Del	DEL	AG	TCGA-DU-6394-01A-11D-1705-08	14118005	139391997	1821434	22	19306											
NOTCH1	4851	broad.mit.edu	37	9	139395163	139395166	+	Frame_Shift_Del	DEL	GTCT	GTCT	-			TCGA-DU-6394-01A-11D-1705-08	TCGA-DU-6394-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	611b0bd5-fb3a-4c10-999c-e4b3f6980d0b	d7371b5d-ee62-450e-bc22-082b1de3911b	g.chr9:139395163_139395166delGTCT	ENST00000277541.6	-	31	5847_5850	c.5772_5775delAGAC	c.(5770-5775)acagacfs	p.TD1924fs		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1924					aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CGCCCGTGCGGTCTGTCTGGTTGT	0.686			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			41	137	---	---	---	---						-	139395166	GTCT	-	139395163	7	5	83	1	0	1	0	1	0	0	0	0	10594	1252	44	0	1908	0	NOTCH1	9	139395163	Frame_Shift_Del	DEL	GTCT	TCGA-DU-6394-01A-11D-1705-08	3166	139395163	1818268	23	19307											
NOS1	4842	broad.mit.edu	37	12	117669890	117669890	+	Silent	SNP	G	G	A			TCGA-DU-6394-01A-11D-1705-08	TCGA-DU-6394-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	611b0bd5-fb3a-4c10-999c-e4b3f6980d0b	d7371b5d-ee62-450e-bc22-082b1de3911b	g.chr12:117669890G>A	ENST00000317775.6	-	22	3967	c.3282C>T	c.(3280-3282)acC>acT	p.T1094T	NOS1_ENST00000338101.4_Silent_p.T1128T|NOS1_ENST00000344089.3_3'UTR	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN	nitric oxide synthase 1 (neuronal)	1094	FAD-binding FR-type.				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	CCTGGAAGATGGTGCAGGGCG	0.592													19	19					0	0	1	0	0	A	117669890	G	A	117669890	2	1	83	1	0	0	0	0	0	0	0	1	10588	1335	47	2		2	NOS1	12	117669890	Silent	SNP	G	TCGA-DU-6394-01A-11D-1705-08		117669890	16182005	24	19308											
NPAS3	64067	broad.mit.edu	37	14	34263252	34263252	+	Splice_Site	SNP	T	T	G			TCGA-DU-6394-01A-11D-1705-08	TCGA-DU-6394-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	611b0bd5-fb3a-4c10-999c-e4b3f6980d0b	d7371b5d-ee62-450e-bc22-082b1de3911b	g.chr14:34263252T>G	ENST00000346562.2	+	9	1279		c.e9+2		NPAS3_ENST00000551492.1_Splice_Site|NPAS3_ENST00000548645.1_Splice_Site|NPAS3_ENST00000357798.5_Splice_Site|NPAS3_ENST00000356141.4_Splice_Site	NM_001164749.1|NM_001165893.1|NM_022123.2|NM_173159.2	NP_001158221.1|NP_001159365.1|NP_071406.1|NP_775182.1	Q8IXF0	NPAS3_HUMAN	neuronal PAS domain protein 3						regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)		CCTTCTTAGGTATATTTTCTA	0.333													25	39					0	0	1	0	0	G	34263252	T	G	34263252	5	3	83	1	0	0	0	0	0	0	1	0	10611	1652	57	5	1396	5	NPAS3	14	34263252	Splice_Site	SNP	T	TCGA-DU-6394-01A-11D-1705-08		34263252	73086288	25	19309											
KIF26A	26153	broad.mit.edu	37	14	104643666	104643666	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6394-01A-11D-1705-08	TCGA-DU-6394-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	611b0bd5-fb3a-4c10-999c-e4b3f6980d0b	d7371b5d-ee62-450e-bc22-082b1de3911b	g.chr14:104643666C>A	ENST00000315264.7	+	11	4502	c.4124C>A	c.(4123-4125)tCg>tAg	p.S1375*	KIF26A_ENST00000423312.2_Nonsense_Mutation_p.S1514*			Q9ULI4	KI26A_HUMAN	kinesin family member 26A	1514					blood coagulation|enteric nervous system development|microtubule-based movement|negative regulation of signal transduction|regulation of cell growth by extracellular stimulus	cytosol|microtubule	ATP binding|microtubule binding|microtubule motor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)		CTGGGGCCTTCGGTGAAGCTG	0.736													2	4					1	1	1	1	0	A	104643666	C	A	104643666	4	1	83	1	0	0	0	0	0	1	0	0	8336	893	31	5	4587	5	KIF26A	14	104643666	Nonsense_Mutation	SNP	C	TCGA-DU-6394-01A-11D-1705-08	70380414	104643666	2705874	26	19310											
JAG2	3714	broad.mit.edu	37	14	105615619	105615619	+	Silent	SNP	G	G	A			TCGA-DU-6394-01A-11D-1705-08	TCGA-DU-6394-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	611b0bd5-fb3a-4c10-999c-e4b3f6980d0b	d7371b5d-ee62-450e-bc22-082b1de3911b	g.chr14:105615619G>A	ENST00000331782.3	-	13	2044	c.1641C>T	c.(1639-1641)aaC>aaT	p.N547N	JAG2_ENST00000347004.2_Silent_p.N509N	NM_002226.4	NP_002217.3	Q9Y219	JAG2_HUMAN	jagged 2	547	EGF-like 9.				auditory receptor cell fate commitment|cell communication|cell cycle|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation|spermatogenesis|thymic T cell selection	integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5)	22		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		AGCGAGCGCCGTTCCGGCAGG	0.662													44	70					0	0	1	0	0	A	105615619	G	A	105615619	2	1	83	1	0	0	0	0	0	0	0	1	7979	1136	40	1		1	JAG2	14	105615619	Silent	SNP	G	TCGA-DU-6394-01A-11D-1705-08	971953	105615619	1733921	27	19311											
PHLPP2	23035	broad.mit.edu	37	16	71692597	71692599	+	In_Frame_Del	DEL	TGT	TGT	-	rs145938775		TCGA-DU-6394-01A-11D-1705-08	TCGA-DU-6394-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	611b0bd5-fb3a-4c10-999c-e4b3f6980d0b	d7371b5d-ee62-450e-bc22-082b1de3911b	g.chr16:71692597_71692599delTGT	ENST00000393524.2	-	12	2637_2639	c.1904_1906delACA	c.(1903-1908)aacatc>atc	p.N635del	PHLPP2_ENST00000568954.1_In_Frame_Del_p.N702del|PHLPP2_ENST00000356272.3_In_Frame_Del_p.N702del|PHLPP2_ENST00000567016.1_In_Frame_Del_p.N737del|RP11-432I5.6_ENST00000567077.1_RNA|PHLPP2_ENST00000360429.3_In_Frame_Del_p.N702del|PHLPP2_ENST00000540628.1_5'UTR			Q6ZVD8	PHLP2_HUMAN	PH domain and leucine rich repeat protein phosphatase 2	702						cytoplasm|membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						AAAATGCTGATGTTGTTGGAGTG	0.458													25	135	---	---	---	---						-	71692599	TGT	-	71692597	7	5	83	1	0	1	0	1	0	0	0	0	11903	1464	51	0	1888	0	PHLPP2	16	71692597	In_Frame_Del	DEL	TGT	TCGA-DU-6394-01A-11D-1705-08		71692597	18662156	28	19312											
NF1	4763	broad.mit.edu	37	17	29546036	29546037	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-DU-6394-01A-11D-1705-08	TCGA-DU-6394-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	611b0bd5-fb3a-4c10-999c-e4b3f6980d0b	d7371b5d-ee62-450e-bc22-082b1de3911b	g.chr17:29546036_29546037delAG	ENST00000358273.4	+	14	1924_1925	c.1541_1542delAG	c.(1540-1542)cagfs	p.Q514fs	NF1_ENST00000431387.4_Frame_Shift_Del_p.Q514fs|NF1_ENST00000356175.3_Frame_Shift_Del_p.Q514fs	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	514					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(6)|p.Q514fs*43(2)|p.N510_E547del(1)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		CCAAGAAAACAGGGGCCCGAAA	0.426			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			7	13	---	---	---	---						-	29546037	AG	-	29546036	7	5	83	1	0	1	0	1	0	0	0	0	10403	188	7	0	1595	0	NF1	17	29546036	Frame_Shift_Del	DEL	AG	TCGA-DU-6394-01A-11D-1705-08		29546036	51649174	29	19313											
NF1	4763	broad.mit.edu	37	17	29553697	29553697	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6394-01A-11D-1705-08	TCGA-DU-6394-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	611b0bd5-fb3a-4c10-999c-e4b3f6980d0b	d7371b5d-ee62-450e-bc22-082b1de3911b	g.chr17:29553697C>A	ENST00000358273.4	+	18	2629	c.2246C>A	c.(2245-2247)tCa>tAa	p.S749*	NF1_ENST00000356175.3_Nonsense_Mutation_p.S749*	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	749					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(4)|p.S749*(1)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		AATATGATGTCAACAGGTAAA	0.403			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			7	162					0.00198382	0.00212552	1	1	0	A	29553697	C	A	29553697	4	1	83	1	0	0	0	0	0	1	0	0	10403	838	29	5	2377	5	NF1	17	29553697	Nonsense_Mutation	SNP	C	TCGA-DU-6394-01A-11D-1705-08	7661	29553697	51641513	30	19314											
NF1	4763	broad.mit.edu	37	17	29652976	29652979	+	Frame_Shift_Del	DEL	TCTC	TCTC	-			TCGA-DU-6394-01A-11D-1705-08	TCGA-DU-6394-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	611b0bd5-fb3a-4c10-999c-e4b3f6980d0b	d7371b5d-ee62-450e-bc22-082b1de3911b	g.chr17:29652976_29652979delTCTC	ENST00000358273.4	+	37	5357_5360	c.4974_4977delTCTC	c.(4972-4977)tttctcfs	p.FL1658fs	NF1_ENST00000581113.2_3'UTR|NF1_ENST00000356175.3_Frame_Shift_Del_p.FL1637fs	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1658	CRAL-TRIO.				actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(3)|p.S1660fs*37(2)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		AAACAGACTTTCTCTCTAAGTGGT	0.422			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			11	168	---	---	---	---						-	29652979	TCTC	-	29652976	7	5	83	1	0	1	0	1	0	0	0	0	10403	1780	62	0	5181	0	NF1	17	29652976	Frame_Shift_Del	DEL	TCTC	TCGA-DU-6394-01A-11D-1705-08	99279	29652976	51542234	31	19315											
NF1	4763	broad.mit.edu	37	17	29670155	29670155	+	Splice_Site	SNP	T	T	A			TCGA-DU-6394-01A-11D-1705-08	TCGA-DU-6394-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	611b0bd5-fb3a-4c10-999c-e4b3f6980d0b	d7371b5d-ee62-450e-bc22-082b1de3911b	g.chr17:29670155T>A	ENST00000358273.4	+	48	7572		c.e48+2		NF1_ENST00000444181.2_Splice_Site|NF1_ENST00000417592.2_Splice_Site|NF1_ENST00000356175.3_Splice_Site	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1						actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(3)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TTTTAAAAGGTAAAAAAGCCT	0.318			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			6	34					0	0	1	0	0	A	29670155	T	A	29670155	5	1	83	1	0	0	0	0	0	0	1	0	10403	1652	57	5	7442	5	NF1	17	29670155	Splice_Site	SNP	T	TCGA-DU-6394-01A-11D-1705-08	17179	29670155	51525055	32	19316											
NT5C	30833	broad.mit.edu	37	17	73126675	73126675	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6394-01A-11D-1705-08	TCGA-DU-6394-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	611b0bd5-fb3a-4c10-999c-e4b3f6980d0b	d7371b5d-ee62-450e-bc22-082b1de3911b	g.chr17:73126675C>A	ENST00000245552.2	-	5	601	c.514G>T	c.(514-516)Gtc>Ttc	p.V172F	NT5C_ENST00000582160.1_Missense_Mutation_p.V86F|NT5C_ENST00000582170.1_Missense_Mutation_p.G170V|NT5C_ENST00000578337.1_3'UTR	NM_014595.2	NP_055410.1	Q8TCD5	NT5C_HUMAN	5', 3'-nucleotidase, cytosolic	172					purine base metabolic process|purine nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine deoxyribonucleotide catabolic process|pyrimidine nucleoside catabolic process	cytosol|nucleus	5'-nucleotidase activity|metal ion binding|pyrimidine nucleotide binding					all_lung(278;0.14)|Lung NSC(278;0.168)		LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)			GGGGGCAGGACCAGGTGCCGA	0.607											OREG0024728	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	25	42					9.93527e-08	1.14638e-07	1	1	0	A	73126675	C	A	73126675	3	1	83	1	0	0	0	0	1	0	0	0	10732	507	18	5	95	5	NT5C	17	73126675	Missense_Mutation	SNP	C	TCGA-DU-6394-01A-11D-1705-08	43456520	73126675	8068535	33	19317											
NPTX1	4884	broad.mit.edu	37	17	78444660	78444660	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6394-01A-11D-1705-08	TCGA-DU-6394-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	611b0bd5-fb3a-4c10-999c-e4b3f6980d0b	d7371b5d-ee62-450e-bc22-082b1de3911b	g.chr17:78444660C>T	ENST00000306773.4	-	5	1409	c.1252G>A	c.(1252-1254)Gga>Aga	p.G418R		NM_002522.3	NP_002513.2	Q15818	NPTX1_HUMAN	neuronal pentraxin I	418	Pentaxin.				central nervous system development|synaptic transmission|transport	transport vesicle	metal ion binding			kidney(1)|large_intestine(2)|liver(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)	11	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0487)			GTGGCCCCTCCGTAGATCTCG	0.662													7	48					0	0	1	0	0	T	78444660	C	T	78444660	3	4	83	1	0	0	0	0	1	0	0	0	10650	661	23	1	50	1	NPTX1	17	78444660	Missense_Mutation	SNP	C	TCGA-DU-6394-01A-11D-1705-08	5317985	78444660	2750550	34	19318											
PLIN4	729359	broad.mit.edu	37	19	4510914	4510916	+	In_Frame_Del	DEL	TGG	TGG	-			TCGA-DU-6394-01A-11D-1705-08	TCGA-DU-6394-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	611b0bd5-fb3a-4c10-999c-e4b3f6980d0b	d7371b5d-ee62-450e-bc22-082b1de3911b	g.chr19:4510914_4510916delTGG	ENST00000301286.3	-	3	3013_3015	c.3014_3016delCCA	c.(3013-3018)accaag>aag	p.T1005del		NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4	1005						lipid particle|plasma membrane				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						AGCACTGTCTTGGTGGTGTCCAG	0.626													22	28	---	---	---	---						-	4510916	TGG	-	4510914	7	5	83	1	0	1	0	1	0	0	0	0	12140	1821	63	0	1073	0	PLIN4	19	4510914	In_Frame_Del	DEL	TGG	TCGA-DU-6394-01A-11D-1705-08		4510914	54618069	35	19319											
PGLYRP2	114770	broad.mit.edu	37	19	15582755	15582755	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6394-01A-11D-1705-08	TCGA-DU-6394-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	611b0bd5-fb3a-4c10-999c-e4b3f6980d0b	d7371b5d-ee62-450e-bc22-082b1de3911b	g.chr19:15582755C>A	ENST00000292609.4	-	3	1418	c.1289G>T	c.(1288-1290)cGc>cTc	p.R430L	PGLYRP2_ENST00000340880.4_Missense_Mutation_p.R430L			Q96PD5	PGRP2_HUMAN	peptidoglycan recognition protein 2	430					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptide amidation|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(2)|skin(3)|stomach(2)|urinary_tract(1)	28						CTGCATGGAGCGCATGTTGGC	0.672													3	45					0.150653	0.157661	1	1	0	A	15582755	C	A	15582755	3	1	83	1	0	0	0	0	1	0	0	0	11842	768	27	5	453	5	PGLYRP2	19	15582755	Missense_Mutation	SNP	C	TCGA-DU-6394-01A-11D-1705-08	11071841	15582755	43546228	36	19320											
FKBP8	23770	broad.mit.edu	37	19	18650228	18650228	+	Silent	SNP	C	C	T			TCGA-DU-6394-01A-11D-1705-08	TCGA-DU-6394-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	611b0bd5-fb3a-4c10-999c-e4b3f6980d0b	d7371b5d-ee62-450e-bc22-082b1de3911b	g.chr19:18650228C>T	ENST00000608443.1	-	4	703	c.504G>A	c.(502-504)acG>acA	p.T168T	FKBP8_ENST00000453489.2_Silent_p.T197T|FKBP8_ENST00000610101.1_Intron|FKBP8_ENST00000222308.4_Silent_p.T168T|FKBP8_ENST00000596558.2_Silent_p.T168T|FKBP8_ENST00000597960.3_Silent_p.T168T			Q14318	FKBP8_HUMAN	FK506 binding protein 8, 38kDa		PPIase FKBP-type.				apoptosis|interspecies interaction between organisms|intracellular signal transduction|protein folding	integral to endoplasmic reticulum membrane|mitochondrial membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity|protein binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)	15						TGACCATGGCCGTCTCCCCCA	0.637													49	48					0	0	1	0	0	T	18650228	C	T	18650228	2	4	83	1	0	0	0	0	0	0	0	1	5947	639	23	1		1	FKBP8	19	18650228	Silent	SNP	C	TCGA-DU-6394-01A-11D-1705-08	3067473	18650228	40478755	37	19321											
IRF2BP1	26145	broad.mit.edu	37	19	46387378	46387378	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6394-01A-11D-1705-08	TCGA-DU-6394-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	611b0bd5-fb3a-4c10-999c-e4b3f6980d0b	d7371b5d-ee62-450e-bc22-082b1de3911b	g.chr19:46387378C>A	ENST00000302165.3	-	1	1998	c.1655G>T	c.(1654-1656)tGc>tTc	p.C552F		NM_015649.1	NP_056464.1	Q8IU81	I2BP1_HUMAN	interferon regulatory factor 2 binding protein 1	552					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				cervix(1)|kidney(1)|lung(2)	4		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00442)|GBM - Glioblastoma multiforme(486;0.0402)|Epithelial(262;0.231)		GACCAGCGGGCACTTGTCTCC	0.642													13	4					7.93312e-07	8.92476e-07	1	1	0	A	46387378	C	A	46387378	3	1	83	1	0	0	0	0	1	0	0	0	7873	710	25	5	103	5	IRF2BP1	19	46387378	Missense_Mutation	SNP	C	TCGA-DU-6394-01A-11D-1705-08	27737150	46387378	12741605	38	19322											
PHACTR3	116154	broad.mit.edu	37	20	58381107	58381107	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6394-01A-11D-1705-08	TCGA-DU-6394-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	611b0bd5-fb3a-4c10-999c-e4b3f6980d0b	d7371b5d-ee62-450e-bc22-082b1de3911b	g.chr20:58381107C>T	ENST00000371015.1	+	8	1653	c.1186C>T	c.(1186-1188)Cgg>Tgg	p.R396W	PHACTR3_ENST00000359926.3_Missense_Mutation_p.R393W|PHACTR3_ENST00000395636.2_Missense_Mutation_p.R355W|PHACTR3_ENST00000541461.1_Missense_Mutation_p.R355W|PHACTR3_ENST00000361300.4_Missense_Mutation_p.R285W|PHACTR3_ENST00000355648.4_Missense_Mutation_p.R355W|PHACTR3_ENST00000395639.4_Missense_Mutation_p.R285W	NM_001281507.1|NM_080672.3	NP_001268436.1|NP_542403.1	Q96KR7	PHAR3_HUMAN	phosphatase and actin regulator 3	396						nuclear matrix	actin binding|protein phosphatase inhibitor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|liver(2)|lung(32)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	59	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;2.76e-09)			AACACTGCCACGGAAATGCAA	0.547													61	249					0	0	1	0	0	T	58381107	C	T	58381107	3	4	83	1	0	0	0	0	1	0	0	0	11859	527	19	1	1216	1	PHACTR3	20	58381107	Missense_Mutation	SNP	C	TCGA-DU-6394-01A-11D-1705-08		58381107	4644413	39	19323											
KRTAP13-1	140258	broad.mit.edu	37	21	31768834	31768834	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6394-01A-11D-1705-08	TCGA-DU-6394-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	611b0bd5-fb3a-4c10-999c-e4b3f6980d0b	d7371b5d-ee62-450e-bc22-082b1de3911b	g.chr21:31768834G>A	ENST00000355459.2	+	1	443	c.430G>A	c.(430-432)Gtt>Att	p.V144I		NM_181599.2	NP_853630.2	Q8IUC0	KR131_HUMAN	keratin associated protein 13-1	144						intermediate filament				endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GGGCTATGGCGTTGGATTCTG	0.542													15	16					0	0	1	0	0	A	31768834	G	A	31768834	3	1	83	1	0	0	0	0	1	0	0	0	8565	1145	40	1	432	1	KRTAP13-1	21	31768834	Missense_Mutation	SNP	G	TCGA-DU-6394-01A-11D-1705-08		31768834	16361061	40	19324											
PWP2	5822	broad.mit.edu	37	21	45540355	45540355	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6394-01A-11D-1705-08	TCGA-DU-6394-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	611b0bd5-fb3a-4c10-999c-e4b3f6980d0b	d7371b5d-ee62-450e-bc22-082b1de3911b	g.chr21:45540355G>A	ENST00000291576.7	+	11	1442	c.1315G>A	c.(1315-1317)Gtg>Atg	p.V439M		NM_005049.2	NP_005040.2	Q15269	PWP2_HUMAN	PWP2 periodic tryptophan protein homolog (yeast)	439						cytoplasm|nucleolus	signal transducer activity			cervix(1)|endometrium(6)|large_intestine(6)|lung(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	21				STAD - Stomach adenocarcinoma(101;0.172)|Colorectal(79;0.2)		GGACGGGACCGTGCGAGCCTT	0.597													67	80					0	0	1	0	0	A	45540355	G	A	45540355	3	1	83	1	0	0	0	0	1	0	0	0	12896	1145	40	1	1357	1	PWP2	21	45540355	Missense_Mutation	SNP	G	TCGA-DU-6394-01A-11D-1705-08	13771521	45540355	2589540	41	19325											
FRMPD4	9758	broad.mit.edu	37	X	12701668	12701668	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6394-01A-11D-1705-08	TCGA-DU-6394-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	611b0bd5-fb3a-4c10-999c-e4b3f6980d0b	d7371b5d-ee62-450e-bc22-082b1de3911b	g.chrX:12701668C>T	ENST00000380682.1	+	6	1041	c.535C>T	c.(535-537)Cgc>Tgc	p.R179C		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	179					positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						TGTCAAAGTACGCTTCTCTGA	0.423													24	3					0	0	1	0	0	T	12701668	C	T	12701668	3	4	83	1	0	0	0	0	1	0	0	0	6094	536	19	1	557	1	FRMPD4	23	12701668	Missense_Mutation	SNP	C	TCGA-DU-6394-01A-11D-1705-08		12701668	142568892	42	19326											
BCORL1	63035	broad.mit.edu	37	X	129147257	129147259	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-DU-6394-01A-11D-1705-08	TCGA-DU-6394-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	611b0bd5-fb3a-4c10-999c-e4b3f6980d0b	d7371b5d-ee62-450e-bc22-082b1de3911b	g.chrX:129147257_129147259delAGA	ENST00000540052.1	+	3	553_555	c.509_511delAGA	c.(508-513)gagaag>gag	p.K171del	BCORL1_ENST00000303743.5_In_Frame_Del_p.K171del|BCORL1_ENST00000218147.7_In_Frame_Del_p.K171del|BCORL1_ENST00000359304.2_In_Frame_Del_p.K171del	NM_021946.4	NP_068765	Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	171					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						GGTGTTGGAGAGAAGAATACTTT	0.552													9	21	---	---	---	---						-	129147259	AGA	-	129147257	7	5	83	1	0	1	0	1	0	0	0	0	1385	304	11	0	519	0	BCORL1	23	129147257	In_Frame_Del	DEL	AGA	TCGA-DU-6394-01A-11D-1705-08	116445589	129147257	26123303	43	19327											
PRDM2	7799	broad.mit.edu	37	1	14143064	14143064	+	Splice_Site	SNP	A	A	G			TCGA-DU-6395-01A-12D-1705-08	TCGA-DU-6395-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3189bd5c-ac35-4564-bbd1-744e17faf46d	71783be8-05e1-4cf5-9bf1-4f58ce54a273	g.chr1:14143064A>G	ENST00000376048.5	+	7	780	c.654A>G	c.(652-654)acA>acG	p.T218T	PRDM2_ENST00000235372.7_3'UTR|PRDM2_ENST00000503842.1_Splice_Site_p.T54T|PRDM2_ENST00000505823.1_Splice_Site_p.T54T	NM_001135610.1	NP_001129082.1	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	0						Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		GCTCCCTGACAGGTACGAGGC	0.577													6	27					0	0	0.248553	0	0	G	14143064	A	G	14143064	5	3	84	1	0	0	0	0	0	0	1	0	12510	202	7	3	5226	3	PRDM2	1	14143064	Splice_Site	SNP	A	TCGA-DU-6395-01A-12D-1705-08		14143064	235107557	1	19328											
PDIK1L	149420	broad.mit.edu	37	1	26448766	26448766	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6395-01A-12D-1705-08	TCGA-DU-6395-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3189bd5c-ac35-4564-bbd1-744e17faf46d	71783be8-05e1-4cf5-9bf1-4f58ce54a273	g.chr1:26448766G>A	ENST00000374271.4	+	4	1011	c.724G>A	c.(724-726)Gct>Act	p.A242T	PDIK1L_ENST00000374269.1_Missense_Mutation_p.A242T	NM_001243532.1|NM_001243533.1|NM_152835.4	NP_001230461.1|NP_001230462.1|NP_690048.1	Q8N165	PDK1L_HUMAN	PDLIM1 interacting kinase 1 like	242	Protein kinase.					nucleus	ATP binding|protein serine/threonine kinase activity			large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	7		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00239)|all_lung(284;0.00366)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;7.32e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000735)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.015)|READ - Rectum adenocarcinoma(331;0.0649)		TGACATCTTTGCTCTGGGGAT	0.423													30	63					0	0	0.706142	0	0	A	26448766	G	A	26448766	3	1	84	1	0	0	0	0	1	0	0	0	11720	1319	46	2	730	2	PDIK1L	1	26448766	Missense_Mutation	SNP	G	TCGA-DU-6395-01A-12D-1705-08	12305702	26448766	222801855	2	19329											
CCDC28B	79140	broad.mit.edu	37	1	32670247	32670248	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-DU-6395-01A-12D-1705-08	TCGA-DU-6395-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3189bd5c-ac35-4564-bbd1-744e17faf46d	71783be8-05e1-4cf5-9bf1-4f58ce54a273	g.chr1:32670247_32670248delTG	ENST00000421922.2	+	5	674_675	c.574_575delTG	c.(574-576)tgtfs	p.C192fs	CCDC28B_ENST00000373602.5_Intron|CCDC28B_ENST00000483009.1_Intron			Q9BUN5	CC28B_HUMAN	coiled-coil domain containing 28B	0										large_intestine(4)|lung(3)|ovary(1)|upper_aerodigestive_tract(2)	10		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				AACCCGTCTATGTGTGTGTGTT	0.5													8	273	---	---	---	---						-	32670248	TG	-	32670247	7	5	84	1	0	1	0	1	0	0	0	0	2822	1479	51	0		0	CCDC28B	1	32670247	Frame_Shift_Del	DEL	TG	TCGA-DU-6395-01A-12D-1705-08	6221481	32670247	216580374	3	19330											
PTBP2	58155	broad.mit.edu	37	1	97278639	97278639	+	Silent	SNP	T	T	A			TCGA-DU-6395-01A-12D-1705-08	TCGA-DU-6395-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3189bd5c-ac35-4564-bbd1-744e17faf46d	71783be8-05e1-4cf5-9bf1-4f58ce54a273	g.chr1:97278639T>A	ENST00000609116.1	+	13	1525	c.1443T>A	c.(1441-1443)acT>acA	p.T481T	PTBP2_ENST00000394184.3_Silent_p.T497T|PTBP2_ENST00000426398.2_Silent_p.T481T|PTBP2_ENST00000370198.1_Silent_p.T486T|PTBP2_ENST00000541987.1_3'UTR|PTBP2_ENST00000482253.1_3'UTR|PTBP2_ENST00000370197.1_Silent_p.T486T			Q9UKA9	PTBP2_HUMAN	polypyrimidine tract binding protein 2		RRM 4.						nucleotide binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|skin(1)	26		all_epithelial(167;2.95e-05)|all_lung(203;0.000396)|Lung NSC(277;0.00171)		all cancers(265;0.0582)|Epithelial(280;0.0716)|Colorectal(170;0.0879)|KIRC - Kidney renal clear cell carcinoma(1967;0.202)		CTGGGGGCACTGTGAAAGCAT	0.328													3	101					0	0	0.150653	0	0	A	97278639	T	A	97278639	2	1	84	1	0	0	0	0	0	0	0	1	12775	1567	55	5		5	PTBP2	1	97278639	Silent	SNP	T	TCGA-DU-6395-01A-12D-1705-08	64608392	97278639	151971982	4	19331											
COQ10B	80219	broad.mit.edu	37	2	198338608	198338608	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6395-01A-12D-1705-08	TCGA-DU-6395-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3189bd5c-ac35-4564-bbd1-744e17faf46d	71783be8-05e1-4cf5-9bf1-4f58ce54a273	g.chr2:198338608T>C	ENST00000263960.2	+	5	815	c.677T>C	c.(676-678)aTa>aCa	p.I226T	COQ10B_ENST00000409398.1_Missense_Mutation_p.I176T|COQ10B_ENST00000409010.1_Missense_Mutation_p.I198T|COQ10B_ENST00000545340.1_Missense_Mutation_p.I183T	NM_025147.3	NP_079423.1	Q9H8M1	CQ10B_HUMAN	coenzyme Q10 homolog B (S. cerevisiae)	226						mitochondrial inner membrane				endometrium(1)|large_intestine(2)|lung(3)	6			Epithelial(96;0.231)|OV - Ovarian serous cystadenocarcinoma(117;0.246)			GAAACAAATATACCTCGGGAG	0.413													31	42					0	0	0.804634	0	0	C	198338608	T	C	198338608	3	2	84	1	0	0	0	0	1	0	0	0	3767	1406	49	3	695	3	COQ10B	2	198338608	Missense_Mutation	SNP	T	TCGA-DU-6395-01A-12D-1705-08		198338608	44860765	5	19332											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-DU-6395-01A-12D-1705-08	TCGA-DU-6395-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3189bd5c-ac35-4564-bbd1-744e17faf46d	71783be8-05e1-4cf5-9bf1-4f58ce54a273	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	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								28	48					0	0	0.750413	0	0	T	209113112	C	T	209113112	3	4	84	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-DU-6395-01A-12D-1705-08	10774504	209113112	34086261	6	19333											
TBC1D9	23158	broad.mit.edu	37	4	141543729	141543729	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6395-01A-12D-1705-08	TCGA-DU-6395-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3189bd5c-ac35-4564-bbd1-744e17faf46d	71783be8-05e1-4cf5-9bf1-4f58ce54a273	g.chr4:141543729G>A	ENST00000442267.2	-	21	3495	c.3421C>T	c.(3421-3423)Cgg>Tgg	p.R1141W		NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	1141						intracellular	calcium ion binding|Rab GTPase activator activity			endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				CCGTTGTCCCGGGGCGAGGAG	0.637													20	79					0	0	0.608945	0	0	A	141543729	G	A	141543729	3	1	84	1	0	0	0	0	1	0	0	0	15687	1115	39	1	383	1	TBC1D9	4	141543729	Missense_Mutation	SNP	G	TCGA-DU-6395-01A-12D-1705-08		141543729	49610547	7	19334											
DNAH8	1769	broad.mit.edu	37	6	38893890	38893890	+	Silent	SNP	T	T	A			TCGA-DU-6395-01A-12D-1705-08	TCGA-DU-6395-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3189bd5c-ac35-4564-bbd1-744e17faf46d	71783be8-05e1-4cf5-9bf1-4f58ce54a273	g.chr6:38893890T>A	ENST00000359357.3	+	72	10625	c.10371T>A	c.(10369-10371)atT>atA	p.I3457I	DNAH8_ENST00000449981.2_Silent_p.I3674I|DNAH8_ENST00000441566.1_Silent_p.I3421I|RP1-207H1.3_ENST00000416948.1_RNA|RP1-207H1.3_ENST00000418399.1_RNA					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						AGAATGGCATTATTGTGACAA	0.408													15	116					0	0	0.500413	0	0	A	38893890	T	A	38893890	2	1	84	1	0	0	0	0	0	0	0	1	4634	1742	61	5		5	DNAH8	6	38893890	Silent	SNP	T	TCGA-DU-6395-01A-12D-1705-08		38893890	132221177	8	19335	99	2									
DNAH8	1769	broad.mit.edu	37	6	38893891	38893891	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6395-01A-12D-1705-08	TCGA-DU-6395-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3189bd5c-ac35-4564-bbd1-744e17faf46d	71783be8-05e1-4cf5-9bf1-4f58ce54a273	g.chr6:38893891A>T	ENST00000359357.3	+	72	10626	c.10372A>T	c.(10372-10374)Att>Ttt	p.I3458F	DNAH8_ENST00000449981.2_Missense_Mutation_p.I3675F|DNAH8_ENST00000441566.1_Missense_Mutation_p.I3422F|RP1-207H1.3_ENST00000416948.1_RNA|RP1-207H1.3_ENST00000418399.1_RNA					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						GAATGGCATTATTGTGACAAA	0.413													16	115					0	0	0.520397	0	0	T	38893891	A	T	38893891	3	4	84	1	0	0	0	0	1	0	0	0	4634	449	16	4	10650	4	DNAH8	6	38893891	Missense_Mutation	SNP	A	TCGA-DU-6395-01A-12D-1705-08	1	38893891	132221176	9	19336	99	2									
SHPRH	257218	broad.mit.edu	37	6	146215310	146215310	+	Silent	SNP	T	T	C			TCGA-DU-6395-01A-12D-1705-08	TCGA-DU-6395-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3189bd5c-ac35-4564-bbd1-744e17faf46d	71783be8-05e1-4cf5-9bf1-4f58ce54a273	g.chr6:146215310T>C	ENST00000367503.3	-	27	5081	c.4683A>G	c.(4681-4683)caA>caG	p.Q1561Q	SHPRH_ENST00000438092.2_Silent_p.Q1561Q|SHPRH_ENST00000275233.7_Silent_p.Q1557Q|SHPRH_ENST00000367505.2_Silent_p.Q1557Q	NM_001042683.2	NP_001036148.2	Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase	1557	Helicase C-terminal.				DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		CACGACTGATTTGTGCAAATT	0.313													4	32					0	0	0.184627	0	0	C	146215310	T	C	146215310	2	2	84	1	0	0	0	0	0	0	0	1	14346	1838	64	3		3	SHPRH	6	146215310	Silent	SNP	T	TCGA-DU-6395-01A-12D-1705-08	107321419	146215310	24899757	10	19337											
KIAA1324L	222223	broad.mit.edu	37	7	86542420	86542420	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-6395-01A-12D-1705-08	TCGA-DU-6395-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3189bd5c-ac35-4564-bbd1-744e17faf46d	71783be8-05e1-4cf5-9bf1-4f58ce54a273	g.chr7:86542420G>C	ENST00000450689.2	-	14	2017	c.1832C>G	c.(1831-1833)tCt>tGt	p.S611C	KIAA1324L_ENST00000444627.1_Intron|KIAA1324L_ENST00000297222.6_Missense_Mutation_p.S371C|KIAA1324L_ENST00000416314.1_Missense_Mutation_p.S444C|KIAA1324L_ENST00000490995.1_5'UTR	NM_001142749.2	NP_001136221.1	A8MWY0	K132L_HUMAN	KIAA1324-like	611						integral to membrane				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44	Esophageal squamous(14;0.0058)					CGACTGTTCAGAACCGAGGGC	0.517													11	53					0	0	0.38729	0	0	C	86542420	G	C	86542420	3	2	84	1	0	0	0	0	1	0	0	0	8266	942	33	4	1293	4	KIAA1324L	7	86542420	Missense_Mutation	SNP	G	TCGA-DU-6395-01A-12D-1705-08		86542420	72596243	11	19338											
DLC1	10395	broad.mit.edu	37	8	12952306	12952306	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6395-01A-12D-1705-08	TCGA-DU-6395-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3189bd5c-ac35-4564-bbd1-744e17faf46d	71783be8-05e1-4cf5-9bf1-4f58ce54a273	g.chr8:12952306G>A	ENST00000276297.4	-	12	3897	c.3488C>T	c.(3487-3489)aCg>aTg	p.T1163M	DLC1_ENST00000358919.2_Missense_Mutation_p.T726M|DLC1_ENST00000510318.1_5'UTR|DLC1_ENST00000520226.1_Missense_Mutation_p.T652M|DLC1_ENST00000512044.2_Missense_Mutation_p.T760M	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1	1163	Rho-GAP.				actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding	p.T1163M(1)		NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						GAGTTTGTTCGTCATTAGTGG	0.448													31	34					0	0	0.788014	0	0	A	12952306	G	A	12952306	3	1	84	1	0	0	0	0	1	0	0	0	4578	1145	40	1	1126	1	DLC1	8	12952306	Missense_Mutation	SNP	G	TCGA-DU-6395-01A-12D-1705-08		12952306	133411716	12	19339											
TEX15	56154	broad.mit.edu	37	8	30702110	30702110	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6395-01A-12D-1705-08	TCGA-DU-6395-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3189bd5c-ac35-4564-bbd1-744e17faf46d	71783be8-05e1-4cf5-9bf1-4f58ce54a273	g.chr8:30702110T>C	ENST00000256246.2	-	1	4498	c.4424A>G	c.(4423-4425)tAc>tGc	p.Y1475C		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	1475										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		GCTTCTTTTGTAAACAGAATC	0.338													39	42					0	0	0.812448	0	0	C	30702110	T	C	30702110	3	2	84	1	0	0	0	0	1	0	0	0	15838	1638	57	3	3961	3	TEX15	8	30702110	Missense_Mutation	SNP	T	TCGA-DU-6395-01A-12D-1705-08	17749804	30702110	115661912	13	19340											
UBR5	51366	broad.mit.edu	37	8	103359284	103359284	+	Silent	SNP	T	T	C			TCGA-DU-6395-01A-12D-1705-08	TCGA-DU-6395-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3189bd5c-ac35-4564-bbd1-744e17faf46d	71783be8-05e1-4cf5-9bf1-4f58ce54a273	g.chr8:103359284T>C	ENST00000520539.1	-	6	1029	c.423A>G	c.(421-423)ggA>ggG	p.G141G	UBR5_ENST00000220959.4_Silent_p.G141G|UBR5_ENST00000521922.1_Silent_p.G141G	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	141					cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			CAGAGGATCCTCCACCACTTC	0.483													72	87					0	0	0.870114	0	0	C	103359284	T	C	103359284	2	2	84	1	0	0	0	0	0	0	0	1	16966	1538	54	3		3	UBR5	8	103359284	Silent	SNP	T	TCGA-DU-6395-01A-12D-1705-08	72657174	103359284	43004738	14	19341											
PPP3R2	5535	broad.mit.edu	37	9	104357209	104357209	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6395-01A-12D-1705-08	TCGA-DU-6395-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3189bd5c-ac35-4564-bbd1-744e17faf46d	71783be8-05e1-4cf5-9bf1-4f58ce54a273	g.chr9:104357209A>C	ENST00000374806.1	-	1	74	c.4T>G	c.(4-6)Tcc>Gcc	p.S2A	GRIN3A_ENST00000361820.3_Intron	NM_147180.2	NP_671709.1	Q96LZ3	CANB2_HUMAN	protein phosphatase 3, regulatory subunit B, beta	0							calcium ion binding			breast(1)|endometrium(2)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	22		Acute lymphoblastic leukemia(62;0.0527)			Cyclosporine(DB00091)	CCCATTGTGGACATCTGGCAA	0.607													22	45					0	0	0.639603	0	0	C	104357209	A	C	104357209	3	2	84	1	0	0	0	0	1	0	0	0	12450	275	10	5	521	5	PPP3R2	9	104357209	Missense_Mutation	SNP	A	TCGA-DU-6395-01A-12D-1705-08		104357209	36856222	15	19342											
SCAI	286205	broad.mit.edu	37	9	127734030	127734030	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6395-01A-12D-1705-08	TCGA-DU-6395-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3189bd5c-ac35-4564-bbd1-744e17faf46d	71783be8-05e1-4cf5-9bf1-4f58ce54a273	g.chr9:127734030C>T	ENST00000336505.6	-	16	1551	c.1493G>A	c.(1492-1494)gGc>gAc	p.G498D	SCAI_ENST00000373549.4_Missense_Mutation_p.G521D	NM_001144877.2	NP_001138349.1	Q8N9R8	SCAI_HUMAN	suppressor of cancer cell invasion						negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|integral to membrane|nucleus	protein binding|transcription corepressor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(5)|stomach(1)|urinary_tract(1)	35						TTCCCATAGGCCTCTGCGCAT	0.428													54	92					0	0	0.870114	0	0	T	127734030	C	T	127734030	3	4	84	1	0	0	0	0	1	0	0	0	13922	739	26	2	339	2	SCAI	9	127734030	Missense_Mutation	SNP	C	TCGA-DU-6395-01A-12D-1705-08	23376821	127734030	13479401	16	19343											
MYOF	26509	broad.mit.edu	37	10	95148810	95148810	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6395-01A-12D-1705-08	TCGA-DU-6395-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3189bd5c-ac35-4564-bbd1-744e17faf46d	71783be8-05e1-4cf5-9bf1-4f58ce54a273	g.chr10:95148810A>G	ENST00000371501.4	-	18	1680	c.1558T>C	c.(1558-1560)Tat>Cat	p.Y520H	MYOF_ENST00000371502.4_Missense_Mutation_p.Y520H|MYOF_ENST00000358334.5_Missense_Mutation_p.Y507H|MYOF_ENST00000359263.4_Missense_Mutation_p.Y520H			Q9NZM1	MYOF_HUMAN	myoferlin	520					blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						AGCTCATCATAGGGGTCTGGG	0.408													3	134					0	0	0.150653	0	0	G	95148810	A	G	95148810	3	3	84	1	0	0	0	0	1	0	0	0	10137	420	15	3	4775	3	MYOF	10	95148810	Missense_Mutation	SNP	A	TCGA-DU-6395-01A-12D-1705-08		95148810	40385937	17	19344											
FAT3	120114	broad.mit.edu	37	11	92085432	92085432	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6395-01A-12D-1705-08	TCGA-DU-6395-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3189bd5c-ac35-4564-bbd1-744e17faf46d	71783be8-05e1-4cf5-9bf1-4f58ce54a273	g.chr11:92085432G>A	ENST00000298047.6	+	1	171	c.154G>A	c.(154-156)Gtg>Atg	p.V52M	FAT3_ENST00000409404.2_Missense_Mutation_p.V52M|FAT3_ENST00000541502.1_Missense_Mutation_p.V52M			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	52	Cadherin 1.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TAATGCTACCGTGTATGAGAA	0.488										TCGA Ovarian(4;0.039)			5	35					0	0	0.184627	0	0	A	92085432	G	A	92085432	3	1	84	1	0	0	0	0	1	0	0	0	5724	1145	40	1	156	1	FAT3	11	92085432	Missense_Mutation	SNP	G	TCGA-DU-6395-01A-12D-1705-08		92085432	42921084	18	19345											
COL2A1	1280	broad.mit.edu	37	12	48370602	48370602	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6395-01A-12D-1705-08	TCGA-DU-6395-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3189bd5c-ac35-4564-bbd1-744e17faf46d	71783be8-05e1-4cf5-9bf1-4f58ce54a273	g.chr12:48370602C>T	ENST00000380518.3	-	48	3592	c.3428G>A	c.(3427-3429)gGc>gAc	p.G1143D	COL2A1_ENST00000337299.6_Missense_Mutation_p.G1074D|COL2A1_ENST00000493991.1_5'UTR	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	1143	Triple-helical region.		G -> S (in ACG2).		axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	CACAGGAGGGCCGGGCAGACC	0.647													5	9					0	0	0.184627	0	0	T	48370602	C	T	48370602	3	4	84	1	0	0	0	0	1	0	0	0	3710	739	26	2	1063	2	COL2A1	12	48370602	Missense_Mutation	SNP	C	TCGA-DU-6395-01A-12D-1705-08		48370602	85481293	19	19346											
ATP8A2	51761	broad.mit.edu	37	13	26125550	26125550	+	Silent	SNP	C	C	A			TCGA-DU-6395-01A-12D-1705-08	TCGA-DU-6395-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3189bd5c-ac35-4564-bbd1-744e17faf46d	71783be8-05e1-4cf5-9bf1-4f58ce54a273	g.chr13:26125550C>A	ENST00000381655.2	+	11	1108	c.966C>A	c.(964-966)ggC>ggA	p.G322G	ATP8A2_ENST00000255283.8_Silent_p.G282G	NM_016529.4	NP_057613.4	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8A, member 2	282					ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		TGTTGTTTGGCATCCTCTTGG	0.483													3	45					0.115264	0.117616	0.115264	1	0	A	26125550	C	A	26125550	2	1	84	1	0	0	0	0	0	0	0	1	1191	697	25	5		5	ATP8A2	13	26125550	Silent	SNP	C	TCGA-DU-6395-01A-12D-1705-08		26125550	89044328	20	19347											
SYNE2	23224	broad.mit.edu	37	14	64457244	64457244	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-6395-01A-12D-1705-08	TCGA-DU-6395-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3189bd5c-ac35-4564-bbd1-744e17faf46d	71783be8-05e1-4cf5-9bf1-4f58ce54a273	g.chr14:64457244C>G	ENST00000358025.3	+	20	2659	c.2429C>G	c.(2428-2430)aCt>aGt	p.T810S	SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000344113.4_Missense_Mutation_p.T810S|SYNE2_ENST00000554584.1_Missense_Mutation_p.T810S	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	810					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		GTTCTCACAACTGGGCTTCAG	0.378													28	111					0	0	0.693898	0	0	G	64457244	C	G	64457244	3	3	84	1	0	0	0	0	1	0	0	0	15503	565	20	4	2503	4	SYNE2	14	64457244	Missense_Mutation	SNP	C	TCGA-DU-6395-01A-12D-1705-08		64457244	42892296	21	19348											
FMN1	342184	broad.mit.edu	37	15	33359620	33359620	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6395-01A-12D-1705-08	TCGA-DU-6395-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3189bd5c-ac35-4564-bbd1-744e17faf46d	71783be8-05e1-4cf5-9bf1-4f58ce54a273	g.chr15:33359620C>T	ENST00000334528.9	-	1	465	c.466G>A	c.(466-468)Gag>Aag	p.E156K	FMN1_ENST00000561249.1_Intron|FMN1_ENST00000559047.1_Intron|FMN1_ENST00000558197.1_Missense_Mutation_p.E156K|FMN1_ENST00000559150.1_Intron	NM_001103184.2	NP_001096654.1	Q68DA7	FMN1_HUMAN	formin 1	0	Microtubule-binding (By similarity).				actin cytoskeleton organization	actin cytoskeleton|adherens junction|cytoplasm|nucleus	actin binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)		TCCTCTGGCTCCTGGCCACCA	0.517													4	69					0	0	0.150653	0	0	T	33359620	C	T	33359620	3	4	84	1	0	0	0	0	1	0	0	0	5982	864	30	2	3192	2	FMN1	15	33359620	Missense_Mutation	SNP	C	TCGA-DU-6395-01A-12D-1705-08		33359620	69171772	22	19349											
CHRNA3	1136	broad.mit.edu	37	15	78893607	78893607	+	Silent	SNP	A	A	G			TCGA-DU-6395-01A-12D-1705-08	TCGA-DU-6395-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3189bd5c-ac35-4564-bbd1-744e17faf46d	71783be8-05e1-4cf5-9bf1-4f58ce54a273	g.chr15:78893607A>G	ENST00000326828.5	-	5	1761	c.1377T>C	c.(1375-1377)aaT>aaC	p.N459N	CHRNA3_ENST00000348639.3_Silent_p.N459N	NM_000743.4	NP_000734.2	P32297	ACHA3_HUMAN	cholinergic receptor, nicotinic, alpha 3 (neuronal)	459					activation of transmembrane receptor protein tyrosine kinase activity|behavioral response to nicotine|locomotory behavior|regulation of acetylcholine secretion|regulation of dendrite morphogenesis|regulation of excitatory postsynaptic membrane potential|regulation of smooth muscle contraction|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|dendrite|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic density|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CTTTGGCTTCATTTTGTGCTT	0.408													30	97					0	0	0.729181	0	0	G	78893607	A	G	78893607	2	3	84	1	0	0	0	0	0	0	0	1	3406	214	8	3		3	CHRNA3	15	78893607	Silent	SNP	A	TCGA-DU-6395-01A-12D-1705-08	45533987	78893607	23637785	23	19350											
ZNF23	7571	broad.mit.edu	37	16	71483441	71483444	+	Frame_Shift_Del	DEL	AATT	AATT	-			TCGA-DU-6395-01A-12D-1705-08	TCGA-DU-6395-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3189bd5c-ac35-4564-bbd1-744e17faf46d	71783be8-05e1-4cf5-9bf1-4f58ce54a273	g.chr16:71483441_71483444delAATT	ENST00000393539.2	-	6	1297_1300	c.484_487delAATT	c.(484-489)aattctfs	p.NS162fs	AC010547.9_ENST00000561908.1_3'UTR|ZNF23_ENST00000357254.4_Frame_Shift_Del_p.NS162fs|ZNF23_ENST00000539742.1_5'UTR|ZNF23_ENST00000497160.1_3'UTR|ZNF23_ENST00000358700.2_3'UTR|ZNF23_ENST00000428724.2_Frame_Shift_Del_p.NS104fs|ZNF23_ENST00000417828.1_Frame_Shift_Del_p.NS162fs|ZNF23_ENST00000564528.1_Frame_Shift_Del_p.NS104fs	NM_145911.1	NP_666016.1	P17027	ZNF23_HUMAN	zinc finger protein 23	162					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(14)|stomach(1)|urinary_tract(1)	29		Ovarian(137;0.00768)		BRCA - Breast invasive adenocarcinoma(221;0.0686)		CTTTCCTCAGAATTAATTATTTCA	0.402													10	109	---	---	---	---						-	71483444	AATT	-	71483441	7	5	84	1	0	1	0	1	0	0	0	0	17841	246	9	0	1448	0	ZNF23	16	71483441	Frame_Shift_Del	DEL	AATT	TCGA-DU-6395-01A-12D-1705-08		71483441	18871312	24	19351											
NLGN2	57555	broad.mit.edu	37	17	7318155	7318155	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6395-01A-12D-1705-08	TCGA-DU-6395-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3189bd5c-ac35-4564-bbd1-744e17faf46d	71783be8-05e1-4cf5-9bf1-4f58ce54a273	g.chr17:7318155C>T	ENST00000302926.2	+	4	905	c.832C>T	c.(832-834)Cac>Tac	p.H278Y	NLGN2_ENST00000575301.1_Missense_Mutation_p.H278Y	NM_020795.2	NP_065846.1	Q8NFZ4	NLGN2_HUMAN	neuroligin 2	278					cell-cell junction maintenance|neuron cell-cell adhesion|positive regulation of synaptogenesis|regulation of inhibitory postsynaptic membrane potential|synapse assembly	cell surface|integral to plasma membrane|postsynaptic membrane	neurexin binding|receptor activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|prostate(2)|skin(3)	22		Prostate(122;0.157)				GATCCTCTCCCACCATTCAGA	0.612													13	43					0	0	0.411799	0	0	T	7318155	C	T	7318155	3	4	84	1	0	0	0	0	1	0	0	0	10509	594	21	2	846	2	NLGN2	17	7318155	Missense_Mutation	SNP	C	TCGA-DU-6395-01A-12D-1705-08		7318155	73877055	25	19352											
TP53	7157	broad.mit.edu	37	17	7578502	7578502	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6395-01A-12D-1705-08	TCGA-DU-6395-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3189bd5c-ac35-4564-bbd1-744e17faf46d	71783be8-05e1-4cf5-9bf1-4f58ce54a273	g.chr17:7578502A>C	ENST00000420246.2	-	5	560	c.428T>G	c.(427-429)gTg>gGg	p.V143G	TP53_ENST00000445888.2_Missense_Mutation_p.V143G|TP53_ENST00000359597.4_Missense_Mutation_p.V143G|TP53_ENST00000269305.4_Missense_Mutation_p.V143G|TP53_ENST00000413465.2_Missense_Mutation_p.V143G|TP53_ENST00000455263.2_Missense_Mutation_p.V143G	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	143	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		V -> A (in sporadic cancers; somatic mutation; strong DNA binding ability at 32.5 degrees Celsius; strong reduction of transcriptional activity at 37.5 degrees Celsius).|V -> E (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).|V -> M (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.V143A(18)|p.0?(8)|p.V143E(5)|p.V11A(2)|p.V50A(2)|p.L137_W146del10(1)|p.P142_Q144delPVQ(1)|p.K139fs*4(1)|p.A138_V143delAKTCPV(1)|p.V143G(1)|p.V143_S149del(1)|p.C141fs*5(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)		CCACAGCTGCACAGGGCAGGT	0.587		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)			21	31					0	0	0.654019	0	0	C	7578502	A	C	7578502	3	2	84	1	0	0	0	0	1	0	0	0	16442	159	6	5	870	5	TP53	17	7578502	Missense_Mutation	SNP	A	TCGA-DU-6395-01A-12D-1705-08	260347	7578502	73616708	26	19353											
TP53	7157	broad.mit.edu	37	17	7579362	7579362	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6395-01A-12D-1705-08	TCGA-DU-6395-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3189bd5c-ac35-4564-bbd1-744e17faf46d	71783be8-05e1-4cf5-9bf1-4f58ce54a273	g.chr17:7579362A>C	ENST00000420246.2	-	4	457	c.325T>G	c.(325-327)Ttc>Gtc	p.F109V	TP53_ENST00000445888.2_Missense_Mutation_p.F109V|TP53_ENST00000359597.4_Missense_Mutation_p.F109V|TP53_ENST00000269305.4_Missense_Mutation_p.F109V|TP53_ENST00000413465.2_Missense_Mutation_p.F109V|TP53_ENST00000455263.2_Missense_Mutation_p.F109V	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	109	Interaction with HIPK1 (By similarity).|Interaction with WWOX.		F -> C (in sporadic cancers; somatic mutation).|F -> L (in a sporadic cancer; somatic mutation).|F -> 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.0?(8)|p.Q100fs*37(3)|p.G59fs*23(3)|p.F109fs*16(3)|p.G108_F109delGF(2)|p.F109_R110delFR(2)|p.V73fs*9(1)|p.G105_T125del21(1)|p.Y107fs*44(1)|p.W91fs*13(1)|p.Y103_G112>C(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.Y107fs*38(1)|p.F109V(1)|p.Y103_L111>L(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)		CCCAGACGGAAACCGTAGCTG	0.612		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)			23	38					0	0	0.654019	0	0	C	7579362	A	C	7579362	3	2	84	1	0	0	0	0	1	0	0	0	16442	14	1	5	977	5	TP53	17	7579362	Missense_Mutation	SNP	A	TCGA-DU-6395-01A-12D-1705-08	860	7579362	73615848	27	19354	100	2									
TP53	7157	broad.mit.edu	37	17	7579363	7579363	+	Silent	SNP	A	A	C			TCGA-DU-6395-01A-12D-1705-08	TCGA-DU-6395-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3189bd5c-ac35-4564-bbd1-744e17faf46d	71783be8-05e1-4cf5-9bf1-4f58ce54a273	g.chr17:7579363A>C	ENST00000420246.2	-	4	456	c.324T>G	c.(322-324)ggT>ggG	p.G108G	TP53_ENST00000445888.2_Silent_p.G108G|TP53_ENST00000359597.4_Silent_p.G108G|TP53_ENST00000269305.4_Silent_p.G108G|TP53_ENST00000413465.2_Silent_p.G108G|TP53_ENST00000455263.2_Silent_p.G108G	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	108	Interaction with HIPK1 (By similarity).|Interaction with WWOX.		G -> D (in a sporadic cancer; somatic mutation).|G -> 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.0?(8)|p.Q100fs*37(3)|p.G59fs*23(3)|p.F109fs*16(3)|p.G108_F109delGF(2)|p.G108del(2)|p.V73fs*9(1)|p.G105_T125del21(1)|p.?_?ins?(1)|p.Y107fs*44(1)|p.W91fs*13(1)|p.Y103_G112>C(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.G108G(1)|p.Y107fs*38(1)|p.Y103_L111>L(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)		CCAGACGGAAACCGTAGCTGC	0.617		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)			23	37					0	0	0.654019	0	0	C	7579363	A	C	7579363	2	2	84	1	0	0	0	0	0	0	0	1	16442	30	2	5		5	TP53	17	7579363	Silent	SNP	A	TCGA-DU-6395-01A-12D-1705-08	1	7579363	73615847	28	19355	100	2									
DLGAP1	9229	broad.mit.edu	37	18	3879577	3879577	+	Silent	SNP	G	G	A			TCGA-DU-6395-01A-12D-1705-08	TCGA-DU-6395-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3189bd5c-ac35-4564-bbd1-744e17faf46d	71783be8-05e1-4cf5-9bf1-4f58ce54a273	g.chr18:3879577G>A	ENST00000315677.3	-	4	1087	c.492C>T	c.(490-492)aaC>aaT	p.N164N	DLGAP1_ENST00000584874.1_Silent_p.N164N|DLGAP1-AS3_ENST00000577649.1_RNA|DLGAP1_ENST00000581527.1_Silent_p.N164N|DLGAP1_ENST00000515196.2_Silent_p.N164N	NM_004746.3	NP_004737.2	O14490	DLGP1_HUMAN	discs, large (Drosophila) homolog-associated protein 1	164					synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56		Colorectal(8;0.0257)				CCTTGCCCCCGTTGACGCTGC	0.711													33	84					0	0	0.769981	0	0	A	3879577	G	A	3879577	2	1	84	1	0	0	0	0	0	0	0	1	4587	1136	40	1		1	DLGAP1	18	3879577	Silent	SNP	G	TCGA-DU-6395-01A-12D-1705-08		3879577	74197671	29	19356											
PDE4C	5143	broad.mit.edu	37	19	18329192	18329192	+	Silent	SNP	G	G	A	rs149723522		TCGA-DU-6395-01A-12D-1705-08	TCGA-DU-6395-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3189bd5c-ac35-4564-bbd1-744e17faf46d	71783be8-05e1-4cf5-9bf1-4f58ce54a273	g.chr19:18329192G>A	ENST00000355502.3	-	14	2053	c.1182C>T	c.(1180-1182)gcC>gcT	p.A394A	PDE4C_ENST00000447275.3_Silent_p.A288A|PDE4C_ENST00000539010.1_Silent_p.A163A|PDE4C_ENST00000594617.3_Silent_p.A394A|PDE4C_ENST00000597297.1_Silent_p.A164A|AC068499.10_ENST00000594805.3_RNA|PDE4C_ENST00000598111.2_Intron|PDE4C_ENST00000262805.12_Silent_p.A362A|PDE4C_ENST00000594465.3_Silent_p.A394A			Q08493	PDE4C_HUMAN	phosphodiesterase 4C, cAMP-specific	394					signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33					Dyphylline(DB00651)	GGGCCACGTCGGCGGCATGTA	0.637													42	75					0	0	0.870114	0	0	A	18329192	G	A	18329192	2	1	84	1	0	0	0	0	0	0	0	1	11688	1103	39	1		1	PDE4C	19	18329192	Silent	SNP	G	TCGA-DU-6395-01A-12D-1705-08		18329192	40799791	30	19357											
CDH4	1002	broad.mit.edu	37	20	60419868	60419868	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6395-01A-12D-1705-08	TCGA-DU-6395-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3189bd5c-ac35-4564-bbd1-744e17faf46d	71783be8-05e1-4cf5-9bf1-4f58ce54a273	g.chr20:60419868G>A	ENST00000360469.5	+	5	809	c.721G>A	c.(721-723)Gcc>Acc	p.A241T	CDH4_ENST00000543233.1_Missense_Mutation_p.A167T	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	241	Cadherin 1.				adherens junction organization|cell junction assembly		calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			GGAGGAGCACGCCTCTTACCA	0.672													10	19					0	0	0.38729	0	0	A	60419868	G	A	60419868	3	1	84	1	0	0	0	0	1	0	0	0	3134	1087	38	1	739	1	CDH4	20	60419868	Missense_Mutation	SNP	G	TCGA-DU-6395-01A-12D-1705-08		60419868	2605652	31	19358											
BAGE2	85319	broad.mit.edu	37	21	11058348	11058348	+	RNA	SNP	C	C	A			TCGA-DU-6395-01A-12D-1705-08	TCGA-DU-6395-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3189bd5c-ac35-4564-bbd1-744e17faf46d	71783be8-05e1-4cf5-9bf1-4f58ce54a273	g.chr21:11058348C>A	ENST00000470054.1	-	0	324									B melanoma antigen family, member 2															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)		GGAGAGAAATCTCTTTATAAA	0.343													6	156					0.00448238	0.00476849	0.307466	1	0	A	11058348	C	A	11058348	1	1	84	0	1	0	0	0	0	0	0	0	1290	928	32	4		4	BAGE2	21	11058348	RNA	SNP	C	TCGA-DU-6395-01A-12D-1705-08		11058348	37071547	32	19359											
N6AMT1	29104	broad.mit.edu	37	21	30254531	30254531	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6395-01A-12D-1705-08	TCGA-DU-6395-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3189bd5c-ac35-4564-bbd1-744e17faf46d	71783be8-05e1-4cf5-9bf1-4f58ce54a273	g.chr21:30254531T>C	ENST00000303775.5	-	3	288	c.263A>G	c.(262-264)gAg>gGg	p.E88G	N6AMT1_ENST00000351429.3_Missense_Mutation_p.E88G	NM_013240.4	NP_037372	Q9Y5N5	HEMK2_HUMAN	N-6 adenine-specific DNA methyltransferase 1 (putative)	88					positive regulation of cell growth	protein complex	nucleic acid binding|protein binding|protein methyltransferase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)	12						GCGTGCTGTCTCTAGGGTACA	0.358													19	51					0	0	0.608945	0	0	C	30254531	T	C	30254531	3	2	84	1	0	0	0	0	1	0	0	0	10162	1551	54	3	397	3	N6AMT1	21	30254531	Missense_Mutation	SNP	T	TCGA-DU-6395-01A-12D-1705-08	19196183	30254531	17875364	33	19360											
C22orf29	79680	broad.mit.edu	37	22	19839287	19839287	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-6395-01A-12D-1705-08	TCGA-DU-6395-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3189bd5c-ac35-4564-bbd1-744e17faf46d	71783be8-05e1-4cf5-9bf1-4f58ce54a273	g.chr22:19839287G>C	ENST00000405640.1	-	2	1166	c.498C>G	c.(496-498)gaC>gaG	p.D166E	GNB1L_ENST00000329517.6_Intron|C22orf29_ENST00000407472.1_Missense_Mutation_p.D166E|C22orf29_ENST00000484072.1_Intron|GNB1L_ENST00000405009.1_Intron|GNB1L_ENST00000460402.1_Intron|C22orf29_ENST00000328554.4_Missense_Mutation_p.D166E|GNB1L_ENST00000403325.1_Intron			Q7L3V2	CV029_HUMAN	chromosome 22 open reading frame 29	166										NS(1)|large_intestine(1)|lung(3)|prostate(1)|urinary_tract(1)	7	Colorectal(54;0.0993)					GCTCGTAATCGTCAGGCAGGG	0.597													4	98					0	0	0.217242	0	0	C	19839287	G	C	19839287	3	2	84	1	0	0	0	0	1	0	0	0	2155	1136	40	5	600	5	C22orf29	22	19839287	Missense_Mutation	SNP	G	TCGA-DU-6395-01A-12D-1705-08		19839287	31465279	34	19361											
ATRX	546	broad.mit.edu	37	X	76938777	76938777	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DU-6395-01A-12D-1705-08	TCGA-DU-6395-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3189bd5c-ac35-4564-bbd1-744e17faf46d	71783be8-05e1-4cf5-9bf1-4f58ce54a273	g.chrX:76938777delT	ENST00000373344.5	-	9	2185	c.1971delA	c.(1969-1971)ccafs	p.P657fs	ATRX_ENST00000395603.3_Frame_Shift_Del_p.P619fs|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	657					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)	TCTTTACACGTGGGGATCTTC	0.378			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						147	43	---	---	---	---						-	76938777	T	-	76938777	7	5	84	1	0	1	0	1	0	0	0	0	1206	1683	59	0	5615	0	ATRX	23	76938777	Frame_Shift_Del	DEL	T	TCGA-DU-6395-01A-12D-1705-08		76938777	78331783	35	19362											
UBXN10	127733	broad.mit.edu	37	1	20517773	20517773	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6396-01A-11D-1705-08	TCGA-DU-6396-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb4a697c-3444-49ed-9085-cec75607f61d	2c1dd78a-2e86-4815-b003-63d5cfc62e38	g.chr1:20517773G>A	ENST00000375099.3	+	2	803	c.719G>A	c.(718-720)aGc>aAc	p.S240N		NM_152376.3	NP_689589.1	Q96LJ8	UBX10_HUMAN	UBX domain protein 10	240	UBX.									endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(2)|skin(2)	14						CGACACTGCAGCATTGAAACA	0.502													3	83					0	0	1	0	0	A	20517773	G	A	20517773	3	1	85	1	0	0	0	0	1	0	0	0	16972	971	34	2	721	2	UBXN10	1	20517773	Missense_Mutation	SNP	G	TCGA-DU-6396-01A-11D-1705-08		20517773	228732848	1	19363											
EIF4G3	8672	broad.mit.edu	37	1	21181494	21181494	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6396-01A-11D-1705-08	TCGA-DU-6396-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb4a697c-3444-49ed-9085-cec75607f61d	2c1dd78a-2e86-4815-b003-63d5cfc62e38	g.chr1:21181494C>T	ENST00000602326.1	-	24	3843	c.3260G>A	c.(3259-3261)gGt>gAt	p.G1087D	EIF4G3_ENST00000537738.1_Missense_Mutation_p.G571D|EIF4G3_ENST00000536266.1_Missense_Mutation_p.G685D|EIF4G3_ENST00000374937.3_Missense_Mutation_p.G1087D|EIF4G3_ENST00000400422.1_Missense_Mutation_p.G1081D|EIF4G3_ENST00000264211.8_Missense_Mutation_p.G1081D|EIF4G3_ENST00000374935.3_Missense_Mutation_p.G801D	NM_001198802.1	NP_001185731.1	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	1081					interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|RNA cap binding|translation initiation factor activity			endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		CTTTGCTCCACCACTGCTGCC	0.473													43	55					0	0	1	0	0	T	21181494	C	T	21181494	3	4	85	1	0	0	0	0	1	0	0	0	5066	507	18	2	1563	2	EIF4G3	1	21181494	Missense_Mutation	SNP	C	TCGA-DU-6396-01A-11D-1705-08	663721	21181494	228069127	2	19364											
RYR2	6262	broad.mit.edu	37	1	237872331	237872331	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6396-01A-11D-1705-08	TCGA-DU-6396-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb4a697c-3444-49ed-9085-cec75607f61d	2c1dd78a-2e86-4815-b003-63d5cfc62e38	g.chr1:237872331T>C	ENST00000366574.2	+	69	10392	c.10075T>C	c.(10075-10077)Ttc>Ctc	p.F3359L	RYR2_ENST00000360064.6_Missense_Mutation_p.F3357L|RYR2_ENST00000609119.1_3'UTR|RYR2_ENST00000542537.1_Missense_Mutation_p.F3343L	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3359					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CCTAGATGAGTTCACCACACT	0.463													8	10					0	0	1	0	0	C	237872331	T	C	237872331	3	2	85	1	0	0	0	0	1	0	0	0	13821	1725	60	3	10349	3	RYR2	1	237872331	Missense_Mutation	SNP	T	TCGA-DU-6396-01A-11D-1705-08	216690837	237872331	11378290	3	19365											
ZNF638	27332	broad.mit.edu	37	2	71658529	71658529	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6396-01A-11D-1705-08	TCGA-DU-6396-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb4a697c-3444-49ed-9085-cec75607f61d	2c1dd78a-2e86-4815-b003-63d5cfc62e38	g.chr2:71658529G>A	ENST00000409544.1	+	26	6353	c.5723G>A	c.(5722-5724)gGc>gAc	p.G1908D	ZNF638_ENST00000355812.3_3'UTR|ZNF638_ENST00000264447.4_Missense_Mutation_p.G1908D|ZNF638_ENST00000409407.1_Missense_Mutation_p.G848D	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638	1908					RNA splicing	cytoplasm|nuclear speck	double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						TCTTCTTCAGGCAAATCAGTG	0.413													4	33					0	0	1	0	0	A	71658529	G	A	71658529	3	1	85	1	0	0	0	0	1	0	0	0	18112	1203	42	2	5821	2	ZNF638	2	71658529	Missense_Mutation	SNP	G	TCGA-DU-6396-01A-11D-1705-08		71658529	171540844	4	19366											
NCKAP5	344148	broad.mit.edu	37	2	133489408	133489408	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-6396-01A-11D-1705-08	TCGA-DU-6396-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb4a697c-3444-49ed-9085-cec75607f61d	2c1dd78a-2e86-4815-b003-63d5cfc62e38	g.chr2:133489408G>C	ENST00000409261.1	-	17	5718	c.5345C>G	c.(5344-5346)cCt>cGt	p.P1782R	NCKAP5_ENST00000405974.3_Missense_Mutation_p.P463R|NCKAP5_ENST00000409213.1_Missense_Mutation_p.P463R|NCKAP5_ENST00000317721.6_Missense_Mutation_p.P1782R	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	1782							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						GCTATCTGCAGGGCGCTGGCC	0.587													31	49					0	0	1	0	0	C	133489408	G	C	133489408	3	2	85	1	0	0	0	0	1	0	0	0	10270	1000	35	4	400	4	NCKAP5	2	133489408	Missense_Mutation	SNP	G	TCGA-DU-6396-01A-11D-1705-08	61830879	133489408	109709965	5	19367											
THSD7B	80731	broad.mit.edu	37	2	138400162	138400162	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6396-01A-11D-1705-08	TCGA-DU-6396-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb4a697c-3444-49ed-9085-cec75607f61d	2c1dd78a-2e86-4815-b003-63d5cfc62e38	g.chr2:138400162T>C	ENST00000409968.1	+	21	4082	c.3904T>C	c.(3904-3906)Tac>Cac	p.Y1302H	THSD7B_ENST00000272643.3_Missense_Mutation_p.Y1305H|THSD7B_ENST00000413152.2_Missense_Mutation_p.Y1274H|THSD7B_ENST00000543459.1_Intron					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		GACCCCCTGCTACAGCTGGGT	0.488													28	74					0	0	1	0	0	C	138400162	T	C	138400162	3	2	85	1	0	0	0	0	1	0	0	0	15940	1522	53	3	3894	3	THSD7B	2	138400162	Missense_Mutation	SNP	T	TCGA-DU-6396-01A-11D-1705-08	4910754	138400162	104799211	6	19368											
FASTKD1	79675	broad.mit.edu	37	2	170411653	170411653	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6396-01A-11D-1705-08	TCGA-DU-6396-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb4a697c-3444-49ed-9085-cec75607f61d	2c1dd78a-2e86-4815-b003-63d5cfc62e38	g.chr2:170411653G>A	ENST00000453153.2	-	7	1541	c.1195C>T	c.(1195-1197)Ctt>Ttt	p.L399F	FASTKD1_ENST00000453929.2_Missense_Mutation_p.L399F	NM_024622.3	NP_078898.3	Q53R41	FAKD1_HUMAN	FAST kinase domains 1	399					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(5)|large_intestine(10)|lung(9)|ovary(4)|prostate(3)	37						AATTCTCTAAGTTTCGCAAAA	0.308													21	23					0	0	1	0	0	A	170411653	G	A	170411653	3	1	85	1	0	0	0	0	1	0	0	0	5718	1029	36	2	1384	2	FASTKD1	2	170411653	Missense_Mutation	SNP	G	TCGA-DU-6396-01A-11D-1705-08	32011491	170411653	72787720	7	19369											
ZNF385B	151126	broad.mit.edu	37	2	180634316	180634316	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6396-01A-11D-1705-08	TCGA-DU-6396-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb4a697c-3444-49ed-9085-cec75607f61d	2c1dd78a-2e86-4815-b003-63d5cfc62e38	g.chr2:180634316T>A	ENST00000410066.1	-	3	770	c.167A>T	c.(166-168)aAa>aTa	p.K56I		NM_152520.4	NP_689733.3	Q569K4	Z385B_HUMAN	zinc finger protein 385B	56						nucleus	nucleic acid binding|zinc ion binding			breast(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	26			Epithelial(96;0.174)|OV - Ovarian serous cystadenocarcinoma(117;0.201)			GCGGTGGGATTTGCCGTTGGA	0.567													14	29					0	0	1	0	0	A	180634316	T	A	180634316	3	1	85	1	0	0	0	0	1	0	0	0	17934	1841	64	5	1309	5	ZNF385B	2	180634316	Missense_Mutation	SNP	T	TCGA-DU-6396-01A-11D-1705-08	10222663	180634316	62565057	8	19370											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-DU-6396-01A-11D-1705-08	TCGA-DU-6396-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb4a697c-3444-49ed-9085-cec75607f61d	2c1dd78a-2e86-4815-b003-63d5cfc62e38	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	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								21	49					0	0	1	0	0	T	209113112	C	T	209113112	3	4	85	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-DU-6396-01A-11D-1705-08	28478796	209113112	34086261	9	19371											
BARD1	580	broad.mit.edu	37	2	215610535	215610535	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6396-01A-11D-1705-08	TCGA-DU-6396-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb4a697c-3444-49ed-9085-cec75607f61d	2c1dd78a-2e86-4815-b003-63d5cfc62e38	g.chr2:215610535C>T	ENST00000260947.4	-	8	1855	c.1721G>A	c.(1720-1722)gGc>gAc	p.G574D	BARD1_ENST00000449967.2_Missense_Mutation_p.G430D	NM_000465.2|NM_001282543.1|NM_001282545.1|NM_001282548.1	NP_000456.2|NP_001269472.1|NP_001269474.1|NP_001269477.1	Q99728	BARD1_HUMAN	BRCA1 associated RING domain 1	574	BRCT 1.				cell cycle arrest|DNA repair|negative regulation of apoptosis|negative regulation of mRNA 3'-end processing|negative regulation of protein export from nucleus|positive regulation of apoptosis|positive regulation of protein catabolic process|protein K6-linked ubiquitination|regulation of phosphorylation|tissue homeostasis	BRCA1-A complex|BRCA1-BARD1 complex|cytoplasm	kinase binding|protein heterodimerization activity|protein homodimerization activity|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			NS(2)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|prostate(4)|upper_aerodigestive_tract(1)	35		Renal(323;0.0243)		Epithelial(149;3.2e-06)|all cancers(144;0.000461)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		CAGCCCACTGCCTATAAGTAC	0.393									Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				21	151					0	0	1	0	0	T	215610535	C	T	215610535	3	4	85	1	0	0	0	0	1	0	0	0	1310	739	26	2	628	2	BARD1	2	215610535	Missense_Mutation	SNP	C	TCGA-DU-6396-01A-11D-1705-08	6497423	215610535	27588838	10	19372											
UGT2B4	7363	broad.mit.edu	37	4	70352368	70352368	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6396-01A-11D-1705-08	TCGA-DU-6396-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb4a697c-3444-49ed-9085-cec75607f61d	2c1dd78a-2e86-4815-b003-63d5cfc62e38	g.chr4:70352368T>G	ENST00000305107.6	-	4	1095	c.1049A>C	c.(1048-1050)aAt>aCt	p.N350T	UGT2B4_ENST00000512583.1_Missense_Mutation_p.N350T|UGT2B4_ENST00000381096.3_Missense_Mutation_p.N214T|UGT2B4_ENST00000506580.1_5'UTR	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B4	350					estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47						CAGCCGAGTATTGAGTCCTAA	0.343													55	107					0	0	1	0	0	G	70352368	T	G	70352368	3	3	85	1	0	0	0	0	1	0	0	0	17021	1493	52	4	549	4	UGT2B4	4	70352368	Missense_Mutation	SNP	T	TCGA-DU-6396-01A-11D-1705-08		70352368	120801908	11	19373											
ANKRA2	57763	broad.mit.edu	37	5	72849256	72849256	+	Silent	SNP	T	T	C			TCGA-DU-6396-01A-11D-1705-08	TCGA-DU-6396-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb4a697c-3444-49ed-9085-cec75607f61d	2c1dd78a-2e86-4815-b003-63d5cfc62e38	g.chr5:72849256T>C	ENST00000296785.3	-	8	1519	c.861A>G	c.(859-861)ctA>ctG	p.L287L		NM_023039.4	NP_075526.1	Q9H9E1	ANRA2_HUMAN	ankyrin repeat, family A (RFXANK-like), 2	287						cytoskeleton|cytosol|membrane	low-density lipoprotein particle binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	8		Lung NSC(167;0.0378)|Ovarian(174;0.0908)		OV - Ovarian serous cystadenocarcinoma(47;3.71e-54)		GGGCTACAGCTAGATCCATAG	0.363													18	27					0	0	1	0	0	C	72849256	T	C	72849256	2	2	85	1	0	0	0	0	0	0	0	1	632	1509	53	3		3	ANKRA2	5	72849256	Silent	SNP	T	TCGA-DU-6396-01A-11D-1705-08		72849256	108066004	12	19374											
SCGN	10590	broad.mit.edu	37	6	25682193	25682193	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-6396-01A-11D-1705-08	TCGA-DU-6396-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb4a697c-3444-49ed-9085-cec75607f61d	2c1dd78a-2e86-4815-b003-63d5cfc62e38	g.chr6:25682193C>G	ENST00000377961.2	+	7	654	c.486C>G	c.(484-486)gaC>gaG	p.D162E	SCGN_ENST00000334979.6_Intron	NM_006998.3	NP_008929.2	O76038	SEGN_HUMAN	secretagogin, EF-hand calcium binding protein	162	EF-hand 4.					extracellular region|transport vesicle membrane	calcium ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						AGATTTTTGACAGAAATAAAG	0.353													16	34					0	0	1	0	0	G	25682193	C	G	25682193	3	3	85	1	0	0	0	0	1	0	0	0	13957	477	17	5	512	5	SCGN	6	25682193	Missense_Mutation	SNP	C	TCGA-DU-6396-01A-11D-1705-08		25682193	145432874	13	19375											
HLA-DOA	3111	broad.mit.edu	37	6	32975239	32975239	+	Silent	SNP	G	G	C			TCGA-DU-6396-01A-11D-1705-08	TCGA-DU-6396-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb4a697c-3444-49ed-9085-cec75607f61d	2c1dd78a-2e86-4815-b003-63d5cfc62e38	g.chr6:32975239G>C	ENST00000229829.5	-	3	537	c.462C>G	c.(460-462)gtC>gtG	p.V154V	HLA-DOA_ENST00000495532.1_5'UTR|HLA-DOA_ENST00000450833.2_Silent_p.V124V	NM_002119.3	NP_002110.1	P06340	DOA_HUMAN	major histocompatibility complex, class II, DO alpha	154	Alpha-2.|Ig-like C1-type.				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endosome membrane|integral to membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity			NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1)	9						CTCCCTCAGTGACAGTTTGGC	0.582													47	86					0	0	1	0	0	C	32975239	G	C	32975239	2	2	85	1	0	0	0	0	0	0	0	1	7241	1277	45	5		5	HLA-DOA	6	32975239	Silent	SNP	G	TCGA-DU-6396-01A-11D-1705-08	7293046	32975239	138139828	14	19376											
TFAP2D	83741	broad.mit.edu	37	6	50683278	50683278	+	Silent	SNP	G	G	T			TCGA-DU-6396-01A-11D-1705-08	TCGA-DU-6396-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb4a697c-3444-49ed-9085-cec75607f61d	2c1dd78a-2e86-4815-b003-63d5cfc62e38	g.chr6:50683278G>T	ENST00000008391.3	+	2	717	c.489G>T	c.(487-489)ctG>ctT	p.L163L		NM_172238.3	NP_758438.2	Q7Z6R9	AP2D_HUMAN	transcription factor AP-2 delta (activating enhancer binding protein 2 delta)	163							DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1)	60	Lung NSC(77;0.0334)					AAAGACTCCTGCCAGGGCCCA	0.632													33	61					3.09479e-21	3.24699e-21	1	1	0	T	50683278	G	T	50683278	2	4	85	1	0	0	0	0	0	0	0	1	15850	1306	46	5		5	TFAP2D	6	50683278	Silent	SNP	G	TCGA-DU-6396-01A-11D-1705-08	17708039	50683278	120431789	15	19377											
MUC17	140453	broad.mit.edu	37	7	100679845	100679845	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6396-01A-11D-1705-08	TCGA-DU-6396-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb4a697c-3444-49ed-9085-cec75607f61d	2c1dd78a-2e86-4815-b003-63d5cfc62e38	g.chr7:100679845C>A	ENST00000306151.4	+	3	5212	c.5148C>A	c.(5146-5148)gaC>gaA	p.D1716E		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1716	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CTCCCGTTGACAACAGCACAC	0.473													89	117					3.65056e-27	3.89393e-27	1	1	0	A	100679845	C	A	100679845	3	1	85	1	0	0	0	0	1	0	0	0	10022	477	17	5	5158	5	MUC17	7	100679845	Missense_Mutation	SNP	C	TCGA-DU-6396-01A-11D-1705-08		100679845	58458818	16	19378											
TAS2R16	50833	broad.mit.edu	37	7	122634819	122634819	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-6396-01A-11D-1705-08	TCGA-DU-6396-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb4a697c-3444-49ed-9085-cec75607f61d	2c1dd78a-2e86-4815-b003-63d5cfc62e38	g.chr7:122634819C>G	ENST00000249284.2	-	1	935	c.870G>C	c.(868-870)aaG>aaC	p.K290N		NM_016945.2	NP_058641.1	Q9NYV7	T2R16_HUMAN	taste receptor, type 2, member 16	290					detection of chemical stimulus involved in sensory perception of bitter taste	endoplasmic reticulum|external side of plasma membrane|trans-Golgi network	bitter taste receptor activity|protein binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						AGGCCTAGCACTTTCCCTTTA	0.418													4	189					0	0	1	0	0	G	122634819	C	G	122634819	3	3	85	1	0	0	0	0	1	0	0	0	15626	564	20	4	9	4	TAS2R16	7	122634819	Missense_Mutation	SNP	C	TCGA-DU-6396-01A-11D-1705-08	21954974	122634819	36503844	17	19379											
EEF1D	1936	broad.mit.edu	37	8	144663399	144663399	+	Splice_Site	SNP	C	C	T			TCGA-DU-6396-01A-11D-1705-08	TCGA-DU-6396-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb4a697c-3444-49ed-9085-cec75607f61d	2c1dd78a-2e86-4815-b003-63d5cfc62e38	g.chr8:144663399C>T	ENST00000532741.1	-	4	1765	c.1537G>A	c.(1537-1539)Gtg>Atg	p.V513M	EEF1D_ENST00000526838.1_Intron|EEF1D_ENST00000317198.6_Splice_Site_p.V97M|EEF1D_ENST00000423316.2_Splice_Site_p.V463M|EEF1D_ENST00000442189.2_Splice_Site_p.V463M|EEF1D_ENST00000395119.3_Splice_Site_p.V97M|EEF1D_ENST00000524624.1_Splice_Site_p.V73M|EEF1D_ENST00000531621.1_Intron|EEF1D_ENST00000532400.1_Intron|EEF1D_ENST00000529272.1_Splice_Site_p.V97M|EEF1D_ENST00000419152.2_Splice_Site_p.V97M|EEF1D_ENST00000528610.1_Splice_Site_p.V73M			P29692	EF1D_HUMAN	eukaryotic translation elongation factor 1 delta (guanine nucleotide exchange protein)	97					positive regulation of I-kappaB kinase/NF-kappaB cascade	cytosol|eukaryotic translation elongation factor 1 complex	protein binding|signal transducer activity|translation elongation factor activity			breast(2)|cervix(1)|endometrium(1)|kidney(4)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)			GGGGCCTCACCGCCACGCAGA	0.692													5	23					0	0	1	0	0	T	144663399	C	T	144663399	5	4	85	1	0	0	0	0	0	0	1	0	4952	666	23	1	576	1	EEF1D	8	144663399	Splice_Site	SNP	C	TCGA-DU-6396-01A-11D-1705-08		144663399	1700623	18	19380											
BMPR1A	657	broad.mit.edu	37	10	88679128	88679128	+	Silent	SNP	C	C	T			TCGA-DU-6396-01A-11D-1705-08	TCGA-DU-6396-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb4a697c-3444-49ed-9085-cec75607f61d	2c1dd78a-2e86-4815-b003-63d5cfc62e38	g.chr10:88679128C>T	ENST00000372037.3	+	10	1605	c.1068C>T	c.(1066-1068)ccC>ccT	p.P356P		NM_004329.2	NP_004320.2	P36894	BMR1A_HUMAN	bone morphogenetic protein receptor, type IA		Protein kinase.				BMP signaling pathway|immune response|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway	integral to membrane|plasma membrane	ATP binding|metal ion binding|protein homodimerization activity|SMAD binding|transforming growth factor beta receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|skin(1)|stomach(1)	24						AAGGAAAGCCCGCAATTGCTC	0.483			"Mis, N, F"			gastrointestinal polyps			Juvenile Polyposis;Hereditary Mixed Polyposis syndrome type 2				3	47					0	0	1	0	0	T	88679128	C	T	88679128	2	4	85	1	0	0	0	0	0	0	0	1	1468	639	23	1		1	BMPR1A	10	88679128	Silent	SNP	C	TCGA-DU-6396-01A-11D-1705-08		88679128	46855619	19	19381											
MKI67	4288	broad.mit.edu	37	10	129906452	129906452	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6396-01A-11D-1705-08	TCGA-DU-6396-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb4a697c-3444-49ed-9085-cec75607f61d	2c1dd78a-2e86-4815-b003-63d5cfc62e38	g.chr10:129906452C>T	ENST00000368654.3	-	13	4027	c.3652G>A	c.(3652-3654)Gcc>Acc	p.A1218T	MKI67_ENST00000368653.3_Missense_Mutation_p.A858T	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1218	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				AGAGCCTGGGCCTTTTCCTTA	0.483													19	80					0	0	1	0	0	T	129906452	C	T	129906452	3	4	85	1	0	0	0	0	1	0	0	0	9646	739	26	2	6130	2	MKI67	10	129906452	Missense_Mutation	SNP	C	TCGA-DU-6396-01A-11D-1705-08	41227324	129906452	5628295	20	19382											
OR52M1	119772	broad.mit.edu	37	11	4567291	4567291	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6396-01A-11D-1705-08	TCGA-DU-6396-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb4a697c-3444-49ed-9085-cec75607f61d	2c1dd78a-2e86-4815-b003-63d5cfc62e38	g.chr11:4567291A>T	ENST00000360213.1	+	1	871	c.871A>T	c.(871-873)Aat>Tat	p.N291Y		NM_001004137.1	NP_001004137.1	Q8NGK5	O52M1_HUMAN	olfactory receptor, family 52, subfamily M, member 1	291					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(2)|lung(9)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		TCCAATCCTCAATCCCATTGT	0.453													27	23					0	0	1	0	0	T	4567291	A	T	4567291	3	4	85	1	0	0	0	0	1	0	0	0	11174	130	5	5	873	5	OR52M1	11	4567291	Missense_Mutation	SNP	A	TCGA-DU-6396-01A-11D-1705-08		4567291	130439225	21	19383											
ARAP1	116985	broad.mit.edu	37	11	72396719	72396719	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-6396-01A-11D-1705-08	TCGA-DU-6396-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb4a697c-3444-49ed-9085-cec75607f61d	2c1dd78a-2e86-4815-b003-63d5cfc62e38	g.chr11:72396719C>G	ENST00000359373.5	-	34	5161	c.4310G>C	c.(4309-4311)cGc>cCc	p.R1437P	ARAP1-AS1_ENST00000542022.1_RNA|ARAP1_ENST00000334211.8_Missense_Mutation_p.R1203P|ARAP1_ENST00000393605.3_Missense_Mutation_p.R1208P|ARAP1_ENST00000455638.2_Missense_Mutation_p.R1437P|ARAP1_ENST00000426523.1_Missense_Mutation_p.R1192P|ARAP1_ENST00000429686.1_Missense_Mutation_p.R1131P|ARAP1_ENST00000495878.1_5'UTR|ARAP1_ENST00000393609.3_Missense_Mutation_p.R1448P			Q96P48	ARAP1_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1	1448					actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction	cytosol|Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|Rho GTPase activator activity|zinc ion binding			cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						TCAGACGTTGCGCAGAAGCTG	0.607													11	24					0	0	1	0	0	G	72396719	C	G	72396719	3	3	85	1	0	0	0	0	1	0	0	0	835	768	27	5	13	5	ARAP1	11	72396719	Missense_Mutation	SNP	C	TCGA-DU-6396-01A-11D-1705-08	67829428	72396719	62609797	22	19384											
FGD6	55785	broad.mit.edu	37	12	95531311	95531311	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6396-01A-11D-1705-08	TCGA-DU-6396-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb4a697c-3444-49ed-9085-cec75607f61d	2c1dd78a-2e86-4815-b003-63d5cfc62e38	g.chr12:95531311A>G	ENST00000343958.4	-	7	3204	c.2981T>C	c.(2980-2982)gTt>gCt	p.V994A	FGD6_ENST00000549499.1_Missense_Mutation_p.V994A|FGD6_ENST00000546711.1_Missense_Mutation_p.V994A	NM_018351.3	NP_060821.3	Q6ZV73	FGD6_HUMAN	FYVE, RhoGEF and PH domain containing 6	994	DH.				actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						AAATTCTCTAACAACAGCAGC	0.328													45	67					0	0	1	0	0	G	95531311	A	G	95531311	3	3	85	1	0	0	0	0	1	0	0	0	5870	43	2	3	1371	3	FGD6	12	95531311	Missense_Mutation	SNP	A	TCGA-DU-6396-01A-11D-1705-08		95531311	38320584	23	19385											
CHST11	50515	broad.mit.edu	37	12	105151362	105151362	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-6396-01A-11D-1705-08	TCGA-DU-6396-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb4a697c-3444-49ed-9085-cec75607f61d	2c1dd78a-2e86-4815-b003-63d5cfc62e38	g.chr12:105151362G>C	ENST00000303694.5	+	3	1279	c.840G>C	c.(838-840)gaG>gaC	p.E280D	CHST11_ENST00000549260.1_Missense_Mutation_p.E275D	NM_018413.5	NP_060883.1	Q9NPF2	CHSTB_HUMAN	carbohydrate (chondroitin 4) sulfotransferase 11	280					chondroitin sulfate biosynthetic process	Golgi membrane|integral to membrane	chondroitin 4-sulfotransferase activity|N-acetylgalactosamine 4-O-sulfotransferase activity			breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(1)	18						GCAAGTACGAGACACTGGAAG	0.532													7	10					0	0	1	0	0	C	105151362	G	C	105151362	3	2	85	1	0	0	0	0	1	0	0	0	3421	933	33	4	850	4	CHST11	12	105151362	Missense_Mutation	SNP	G	TCGA-DU-6396-01A-11D-1705-08	9620051	105151362	28700533	24	19386											
TBX5	6910	broad.mit.edu	37	12	114793418	114793418	+	Silent	SNP	G	G	A			TCGA-DU-6396-01A-11D-1705-08	TCGA-DU-6396-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb4a697c-3444-49ed-9085-cec75607f61d	2c1dd78a-2e86-4815-b003-63d5cfc62e38	g.chr12:114793418G>A	ENST00000310346.4	-	9	2142	c.1476C>T	c.(1474-1476)ggC>ggT	p.G492G	TBX5_ENST00000349716.5_Silent_p.G442G|TBX5_ENST00000405440.2_Silent_p.G492G	NM_000192.3	NP_000183.2	Q99593	TBX5_HUMAN	T-box 5	492					cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		TCCTTGGCACGCCATGAGAGT	0.602													17	18					0	0	1	0	0	A	114793418	G	A	114793418	2	1	85	1	0	0	0	0	0	0	0	1	15721	1074	38	1		1	TBX5	12	114793418	Silent	SNP	G	TCGA-DU-6396-01A-11D-1705-08	9642056	114793418	19058477	25	19387											
WDR66	144406	broad.mit.edu	37	12	122399967	122399967	+	Silent	SNP	C	C	T			TCGA-DU-6396-01A-11D-1705-08	TCGA-DU-6396-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb4a697c-3444-49ed-9085-cec75607f61d	2c1dd78a-2e86-4815-b003-63d5cfc62e38	g.chr12:122399967C>T	ENST00000288912.4	+	15	3245	c.2391C>T	c.(2389-2391)acC>acT	p.T797T	WDR66_ENST00000545752.1_3'UTR|WDR66_ENST00000397454.2_Silent_p.T797T	NM_144668.5	NP_653269.3	Q8TBY9	WDR66_HUMAN	WD repeat domain 66	797							calcium ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)		GCTATCCCACCTGCATGGTCT	0.498													18	93					0	0	1	0	0	T	122399967	C	T	122399967	2	4	85	1	0	0	0	0	0	0	0	1	17377	668	24	2		2	WDR66	12	122399967	Silent	SNP	C	TCGA-DU-6396-01A-11D-1705-08	7606549	122399967	11451928	26	19388											
TUBA3C	7278	broad.mit.edu	37	13	19751659	19751659	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6396-01A-11D-1705-08	TCGA-DU-6396-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb4a697c-3444-49ed-9085-cec75607f61d	2c1dd78a-2e86-4815-b003-63d5cfc62e38	g.chr13:19751659T>C	ENST00000400113.3	-	4	568	c.464A>G	c.(463-465)gAg>gGg	p.E155G		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	155					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		TGAGAGCCGCTCCATGAGCAG	0.587													35	53					0	0	1	0	0	C	19751659	T	C	19751659	3	2	85	1	0	0	0	0	1	0	0	0	16808	1551	54	3	896	3	TUBA3C	13	19751659	Missense_Mutation	SNP	T	TCGA-DU-6396-01A-11D-1705-08		19751659	95418219	27	19389											
MYO5C	55930	broad.mit.edu	37	15	52553129	52553129	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6396-01A-11D-1705-08	TCGA-DU-6396-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb4a697c-3444-49ed-9085-cec75607f61d	2c1dd78a-2e86-4815-b003-63d5cfc62e38	g.chr15:52553129C>T	ENST00000261839.7	-	10	1404	c.1243G>A	c.(1243-1245)Gag>Aag	p.E415K	MYO5C_ENST00000443683.2_Missense_Mutation_p.E358K	NM_018728.3	NP_061198.2	Q9NQX4	MYO5C_HUMAN	myosin VC	415	Myosin head-like.					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		TTAATTCTCTCCACAATGAAG	0.473													44	62					0	0	1	0	0	T	52553129	C	T	52553129	3	4	85	1	0	0	0	0	1	0	0	0	10128	864	30	2	4113	2	MYO5C	15	52553129	Missense_Mutation	SNP	C	TCGA-DU-6396-01A-11D-1705-08		52553129	49978263	28	19390											
ANXA2	302	broad.mit.edu	37	15	60653219	60653219	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6396-01A-11D-1705-08	TCGA-DU-6396-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb4a697c-3444-49ed-9085-cec75607f61d	2c1dd78a-2e86-4815-b003-63d5cfc62e38	g.chr15:60653219C>T	ENST00000396024.3	-	6	437	c.278G>A	c.(277-279)gGc>gAc	p.G93D	ANXA2_ENST00000421017.2_Missense_Mutation_p.G93D|ANXA2_ENST00000451270.2_Missense_Mutation_p.G93D|ANXA2_ENST00000332680.4_Missense_Mutation_p.G111D	NM_001136015.2	NP_001129487.1	P07355	ANXA2_HUMAN	annexin A2	93					angiogenesis|positive regulation of vesicle fusion|skeletal system development	basement membrane|melanosome|midbody|soluble fraction	calcium ion binding|calcium-dependent phospholipid binding|cytoskeletal protein binding|phospholipase inhibitor activity			kidney(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)	9					Alteplase(DB00009)|Anistreplase(DB00029)|Tenecteplase(DB00031)	CTCCAGGTGGCCAGATAAGGC	0.398													3	39					0	0	1	0	0	T	60653219	C	T	60653219	3	4	85	1	0	0	0	0	1	0	0	0	712	739	26	2	777	2	ANXA2	15	60653219	Missense_Mutation	SNP	C	TCGA-DU-6396-01A-11D-1705-08	8100090	60653219	41878173	29	19391											
IL16	3603	broad.mit.edu	37	15	81598375	81598375	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6396-01A-11D-1705-08	TCGA-DU-6396-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb4a697c-3444-49ed-9085-cec75607f61d	2c1dd78a-2e86-4815-b003-63d5cfc62e38	g.chr15:81598375C>T	ENST00000394660.2	+	17	3907	c.3547C>T	c.(3547-3549)Cgc>Tgc	p.R1183C	IL16_ENST00000394652.2_Missense_Mutation_p.R482C|IL16_ENST00000302987.4_Missense_Mutation_p.R1183C|RP11-761I4.4_ENST00000607019.1_RNA	NM_001172128.1|NM_172217.3	NP_001165599.1|NP_757366.2	Q14005	IL16_HUMAN	interleukin 16	1183	Interaction with PPP1R12A, PPP1R12B and PPP1R12C.|PDZ 3.				immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity	p.R1183C(1)|p.R1137C(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						GGCCATCCTCCGCCAAGCTCG	0.582													18	108					0	0	1	0	0	T	81598375	C	T	81598375	3	4	85	1	0	0	0	0	1	0	0	0	7677	652	23	1	3609	1	IL16	15	81598375	Missense_Mutation	SNP	C	TCGA-DU-6396-01A-11D-1705-08	20945156	81598375	20933017	30	19392											
TP53	7157	broad.mit.edu	37	17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	rs121913343		TCGA-DU-6396-01A-11D-1705-08	TCGA-DU-6396-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb4a697c-3444-49ed-9085-cec75607f61d	2c1dd78a-2e86-4815-b003-63d5cfc62e38	g.chr17:7577121G>A	ENST00000420246.2	-	8	949	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000269305.4_Missense_Mutation_p.R273C|TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	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).		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.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			23	10					0	0	1	0	0	A	7577121	G	A	7577121	3	1	85	1	0	0	0	0	1	0	0	0	16442	1087	38	1	469	1	TP53	17	7577121	Missense_Mutation	SNP	G	TCGA-DU-6396-01A-11D-1705-08		7577121	73618089	31	19393											
SEZ6	124925	broad.mit.edu	37	17	27286489	27286489	+	Splice_Site	SNP	G	G	A			TCGA-DU-6396-01A-11D-1705-08	TCGA-DU-6396-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb4a697c-3444-49ed-9085-cec75607f61d	2c1dd78a-2e86-4815-b003-63d5cfc62e38	g.chr17:27286489G>A	ENST00000317338.12	-	9	2201	c.1773C>T	c.(1771-1773)gcC>gcT	p.A591A	PIPOX_ENST00000583215.1_Intron|SEZ6_ENST00000335960.6_Intron|SEZ6_ENST00000360295.9_Splice_Site_p.A591A|SEZ6_ENST00000442608.3_Splice_Site_p.A591A			Q53EL9	SEZ6_HUMAN	seizure related 6 homolog (mouse)	591	Sushi 2.					integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	29	Lung NSC(42;0.0137)		Epithelial(11;4.73e-06)|all cancers(11;2.91e-05)|BRCA - Breast invasive adenocarcinoma(11;8.06e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.111)			CGCTGCACACGGCTGGAAGGC	0.602													15	39					0	0	1	0	0	A	27286489	G	A	27286489	5	1	85	1	0	0	0	0	0	0	1	0	14196	1130	39	1	1260	1	SEZ6	17	27286489	Splice_Site	SNP	G	TCGA-DU-6396-01A-11D-1705-08	19709368	27286489	53908721	32	19394											
DCAKD	79877	broad.mit.edu	37	17	43101983	43101983	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6396-01A-11D-1705-08	TCGA-DU-6396-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb4a697c-3444-49ed-9085-cec75607f61d	2c1dd78a-2e86-4815-b003-63d5cfc62e38	g.chr17:43101983C>T	ENST00000452796.2	-	4	769	c.514G>A	c.(514-516)Gcc>Acc	p.A172T	DCAKD_ENST00000342350.5_Missense_Mutation_p.A172T|DCAKD_ENST00000588499.1_Missense_Mutation_p.A172T			Q8WVC6	DCAKD_HUMAN	dephospho-CoA kinase domain containing	172	DPCK.				coenzyme A biosynthetic process		ATP binding|dephospho-CoA kinase activity			cervix(1)|endometrium(1)|large_intestine(1)|lung(2)|skin(1)	6		Prostate(33;0.155)				ACATGGCGGGCCATGCGGGCC	0.642													17	32					0	0	1	0	0	T	43101983	C	T	43101983	3	4	85	1	0	0	0	0	1	0	0	0	4302	739	26	2	185	2	DCAKD	17	43101983	Missense_Mutation	SNP	C	TCGA-DU-6396-01A-11D-1705-08	15815494	43101983	38093227	33	19395											
KIF2B	84643	broad.mit.edu	37	17	51900796	51900796	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6396-01A-11D-1705-08	TCGA-DU-6396-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb4a697c-3444-49ed-9085-cec75607f61d	2c1dd78a-2e86-4815-b003-63d5cfc62e38	g.chr17:51900796G>T	ENST00000268919.4	+	1	558	c.402G>T	c.(400-402)agG>agT	p.R134S		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	134					blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						TGGATGTGAGGGTCCCCAGCA	0.587													27	38					9.39395e-14	9.69698e-14	1	1	0	T	51900796	G	T	51900796	3	4	85	1	0	0	0	0	1	0	0	0	8340	1223	43	5	404	5	KIF2B	17	51900796	Missense_Mutation	SNP	G	TCGA-DU-6396-01A-11D-1705-08	8798813	51900796	29294414	34	19396											
SLC38A10	124565	broad.mit.edu	37	17	79249788	79249788	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6396-01A-11D-1705-08	TCGA-DU-6396-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb4a697c-3444-49ed-9085-cec75607f61d	2c1dd78a-2e86-4815-b003-63d5cfc62e38	g.chr17:79249788G>A	ENST00000374759.3	-	8	1276	c.893C>T	c.(892-894)aCg>aTg	p.T298M	SLC38A10_ENST00000546352.1_5'UTR|SLC38A10_ENST00000288439.5_Missense_Mutation_p.T298M	NM_001037984.1	NP_001033073.1	Q9HBR0	S38AA_HUMAN	solute carrier family 38, member 10	298					amino acid transport|sodium ion transport	integral to membrane				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			ACACAGCAGCGTGCTCAGGGC	0.612													17	34					0	0	1	0	0	A	79249788	G	A	79249788	3	1	85	1	0	0	0	0	1	0	0	0	14657	1145	40	1	2780	1	SLC38A10	17	79249788	Missense_Mutation	SNP	G	TCGA-DU-6396-01A-11D-1705-08	27348992	79249788	1945422	35	19397											
KCNG2	26251	broad.mit.edu	37	18	77659303	77659303	+	Silent	SNP	C	C	G			TCGA-DU-6396-01A-11D-1705-08	TCGA-DU-6396-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb4a697c-3444-49ed-9085-cec75607f61d	2c1dd78a-2e86-4815-b003-63d5cfc62e38	g.chr18:77659303C>G	ENST00000316249.3	+	2	888	c.888C>G	c.(886-888)ctC>ctG	p.L296L	KCNG2_ENST00000590307.1_3'UTR	NM_012283.1	NP_036415.1	Q9UJ96	KCNG2_HUMAN	potassium voltage-gated channel, subfamily G, member 2	296					energy reserve metabolic process|regulation of heart contraction|regulation of insulin secretion	voltage-gated potassium channel complex	delayed rectifier potassium channel activity	p.L296L(1)		breast(2)|endometrium(4)|lung(7)|skin(1)|upper_aerodigestive_tract(4)	18		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244)		TGCGCGTGCTCTACGTGATGC	0.741													3	9					0	0	1	0	0	G	77659303	C	G	77659303	2	3	85	1	0	0	0	0	0	0	0	1	8072	900	32	4		4	KCNG2	18	77659303	Silent	SNP	C	TCGA-DU-6396-01A-11D-1705-08		77659303	417945	36	19398											
CREB3L3	84699	broad.mit.edu	37	19	4171094	4171094	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-6396-01A-11D-1705-08	TCGA-DU-6396-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb4a697c-3444-49ed-9085-cec75607f61d	2c1dd78a-2e86-4815-b003-63d5cfc62e38	g.chr19:4171094C>G	ENST00000602147.1	+	7	870	c.790C>G	c.(790-792)Ctt>Gtt	p.L264V	CREB3L3_ENST00000595923.1_Silent_p.L298L|CREB3L3_ENST00000602257.1_Silent_p.L297L|CREB3L3_ENST00000252587.3_Intron|CREB3L3_ENST00000078445.2_Silent_p.L299L			Q68CJ9	CR3L3_HUMAN	cAMP responsive element binding protein 3-like 3	387					response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|urinary_tract(3)	24				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18)		TAAGGTCCCTCTTGGAGCAAC	0.612													20	32					0	0	1	0	0	G	4171094	C	G	4171094	3	3	85	1	0	0	0	0	1	0	0	0	3881	900	32	4	927	4	CREB3L3	19	4171094	Missense_Mutation	SNP	C	TCGA-DU-6396-01A-11D-1705-08		4171094	54957889	37	19399											
LRRC8E	80131	broad.mit.edu	37	19	7960545	7960545	+	Silent	SNP	G	G	T	rs143317661	byFrequency	TCGA-DU-6396-01A-11D-1705-08	TCGA-DU-6396-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb4a697c-3444-49ed-9085-cec75607f61d	2c1dd78a-2e86-4815-b003-63d5cfc62e38	g.chr19:7960545G>T	ENST00000306708.6	+	2	158	c.57G>T	c.(55-57)gtG>gtT	p.V19V		NM_001268284.1|NM_001268285.1|NM_025061.4	NP_001255213.1|NP_001255214.1|NP_079337.2	Q6NSJ5	LRC8E_HUMAN	leucine rich repeat containing 8 family, member E	19						integral to membrane				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(10)	35						CGTTCAAGGTGCTCAAACCCT	0.627													3	43					1	1	1	1	0	T	7960545	G	T	7960545	2	4	85	1	0	0	0	0	0	0	0	1	9070	1306	46	5		5	LRRC8E	19	7960545	Silent	SNP	G	TCGA-DU-6396-01A-11D-1705-08	3789451	7960545	51168438	38	19400											
LRFN1	57622	broad.mit.edu	37	19	39798915	39798915	+	Silent	SNP	G	G	C			TCGA-DU-6396-01A-11D-1705-08	TCGA-DU-6396-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb4a697c-3444-49ed-9085-cec75607f61d	2c1dd78a-2e86-4815-b003-63d5cfc62e38	g.chr19:39798915G>C	ENST00000248668.4	-	2	1673	c.1674C>G	c.(1672-1674)cgC>cgG	p.R558R		NM_020862.1	NP_065913.1	Q9P244	LRFN1_HUMAN	leucine rich repeat and fibronectin type III domain containing 1	558						cell junction|integral to membrane|postsynaptic density|postsynaptic membrane				central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			ACACCTTATAGCGGATCATGA	0.657													6	17					0	0	1	0	0	C	39798915	G	C	39798915	2	2	85	1	0	0	0	0	0	0	0	1	8982	958	34	4		4	LRFN1	19	39798915	Silent	SNP	G	TCGA-DU-6396-01A-11D-1705-08	31838370	39798915	19330068	39	19401											
SPTBN4	57731	broad.mit.edu	37	19	41063165	41063165	+	Silent	SNP	C	C	T			TCGA-DU-6396-01A-11D-1705-08	TCGA-DU-6396-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb4a697c-3444-49ed-9085-cec75607f61d	2c1dd78a-2e86-4815-b003-63d5cfc62e38	g.chr19:41063165C>T	ENST00000352632.3	+	26	5612	c.5526C>T	c.(5524-5526)gaC>gaT	p.D1842D	SPTBN4_ENST00000595535.1_Silent_p.D1842D|SPTBN4_ENST00000392025.1_Silent_p.D585D|SPTBN4_ENST00000598249.1_Silent_p.D1842D|SPTBN4_ENST00000392023.1_Silent_p.D518D|SPTBN4_ENST00000338932.3_Silent_p.D1842D			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	1842					actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TCTTCAGTGACGCCCGAGAGC	0.657													19	26					0	0	1	0	0	T	41063165	C	T	41063165	2	4	85	1	0	0	0	0	0	0	0	1	15177	535	19	1		1	SPTBN4	19	41063165	Silent	SNP	C	TCGA-DU-6396-01A-11D-1705-08	1264250	41063165	18065818	40	19402											
LIM2	3982	broad.mit.edu	37	19	51885677	51885678	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DU-6396-01A-11D-1705-08	TCGA-DU-6396-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb4a697c-3444-49ed-9085-cec75607f61d	2c1dd78a-2e86-4815-b003-63d5cfc62e38	g.chr19:51885677_51885678insA	ENST00000221973.3	-	3	487_488	c.445_446insT	c.(445-447)tccfs	p.S149fs	LIM2_ENST00000596399.1_Frame_Shift_Ins_p.S107fs	NM_030657.3	NP_085915.2	P55344	LMIP_HUMAN	lens intrinsic membrane protein 2, 19kDa	107					cell-cell junction assembly	cell junction|integral to membrane	structural constituent of eye lens			endometrium(1)|large_intestine(3)|lung(2)|skin(1)	7		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000214)|OV - Ovarian serous cystadenocarcinoma(262;0.00985)		CTCACTTGAGGAAAAAAACATG	0.564													30	29	---	---	---	---						A	51885678	-	A	51885677	7	5	85	1	0	1	1	0	0	0	0	0	8835	1174	41	0	213	0	LIM2	19	51885677	Frame_Shift_Ins	INS	-	TCGA-DU-6396-01A-11D-1705-08	10822512	51885677	7243306	41	19403											
GZF1	64412	broad.mit.edu	37	20	23350986	23350986	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6396-01A-11D-1705-08	TCGA-DU-6396-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb4a697c-3444-49ed-9085-cec75607f61d	2c1dd78a-2e86-4815-b003-63d5cfc62e38	g.chr20:23350986C>T	ENST00000338121.5	+	6	2121	c.2044C>T	c.(2044-2046)Ctc>Ttc	p.L682F	GZF1_ENST00000542987.1_Missense_Mutation_p.L191F|GZF1_ENST00000377051.2_Missense_Mutation_p.L682F|GZF1_ENST00000544236.1_Missense_Mutation_p.L206F			Q9H116	GZF1_HUMAN	GDNF-inducible zinc finger protein 1	682					transcription, DNA-dependent	nucleolus|nucleoplasm	sequence-specific DNA binding|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|urinary_tract(2)	24	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)					CCAGGACACCCTCCTGGCCAC	0.552													5	52					0	0	1	0	0	T	23350986	C	T	23350986	3	4	85	1	0	0	0	0	1	0	0	0	6955	681	24	2	2062	2	GZF1	20	23350986	Missense_Mutation	SNP	C	TCGA-DU-6396-01A-11D-1705-08		23350986	39674534	42	19404											
RTEL1	51750	broad.mit.edu	37	20	62324513	62324513	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6396-01A-11D-1705-08	TCGA-DU-6396-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb4a697c-3444-49ed-9085-cec75607f61d	2c1dd78a-2e86-4815-b003-63d5cfc62e38	g.chr20:62324513C>T	ENST00000318100.4	+	30	3696	c.2869C>T	c.(2869-2871)Cgg>Tgg	p.R957W	RTEL1-TNFRSF6B_ENST00000482936.1_Missense_Mutation_p.R957W|RTEL1_ENST00000360203.5_Missense_Mutation_p.R957W|RTEL1_ENST00000370003.1_Missense_Mutation_p.R202W|RTEL1_ENST00000508582.2_Missense_Mutation_p.R981W|RTEL1_ENST00000370018.3_Missense_Mutation_p.R957W	NM_001283009.1	NP_001269938.1	Q9NZ71	RTEL1_HUMAN	regulator of telomere elongation helicase 1	957					DNA repair|regulation of double-strand break repair via homologous recombination|telomere maintenance	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)			CCAGTTTGTGCGGCCCCACCA	0.597													5	136					0	0	1	0	0	T	62324513	C	T	62324513	3	4	85	1	0	0	0	0	1	0	0	0	13772	759	27	1	2983	1	RTEL1	20	62324513	Missense_Mutation	SNP	C	TCGA-DU-6396-01A-11D-1705-08	38973527	62324513	701007	43	19405											
TBX1	6899	broad.mit.edu	37	22	19751681	19751681	+	Silent	SNP	C	C	T			TCGA-DU-6396-01A-11D-1705-08	TCGA-DU-6396-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb4a697c-3444-49ed-9085-cec75607f61d	2c1dd78a-2e86-4815-b003-63d5cfc62e38	g.chr22:19751681C>T	ENST00000332710.4	+	5	645	c.516C>T	c.(514-516)taC>taT	p.Y172Y	TBX1_ENST00000329705.7_Silent_p.Y172Y|TBX1_ENST00000359500.3_Silent_p.Y172Y	NM_080647.1	NP_542378.1	O43435	TBX1_HUMAN	T-box 1	172					embryonic viscerocranium morphogenesis|heart development|parathyroid gland development|pharyngeal system development|regulation of transcription from RNA polymerase II promoter|soft palate development|thymus development	nucleus	protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|lung(3)|ovary(2)	8	Colorectal(54;0.0993)	all_lung(157;3.05e-06)				GCTCCAGGTACGCCTTCCACA	0.667													10	17					0	0	1	0	0	T	19751681	C	T	19751681	2	4	85	1	0	0	0	0	0	0	0	1	15710	547	19	1		1	TBX1	22	19751681	Silent	SNP	C	TCGA-DU-6396-01A-11D-1705-08		19751681	31552885	44	19406											
APOL4	80832	broad.mit.edu	37	22	36587386	36587386	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6396-01A-11D-1705-08	TCGA-DU-6396-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb4a697c-3444-49ed-9085-cec75607f61d	2c1dd78a-2e86-4815-b003-63d5cfc62e38	g.chr22:36587386G>A	ENST00000332987.1	-	7	1203	c.781C>T	c.(781-783)Cga>Tga	p.R261*	APOL4_ENST00000405511.1_3'UTR|APOL4_ENST00000429038.2_3'UTR|APOL4_ENST00000404685.3_3'UTR|APOL4_ENST00000352371.1_Nonsense_Mutation_p.R264*|APOL4_ENST00000479929.1_5'UTR			Q9BPW4	APOL4_HUMAN	apolipoprotein L, 4	265					lipid metabolic process|lipid transport|lipoprotein metabolic process	extracellular region	lipid binding			lung(1)	1						GGTACATATCGCCAAGCAATC	0.483													20	37					0	0	1	0	0	A	36587386	G	A	36587386	4	1	85	1	0	0	0	0	0	1	0	0	805	1087	38	1	266	1	APOL4	22	36587386	Nonsense_Mutation	SNP	G	TCGA-DU-6396-01A-11D-1705-08	16835705	36587386	14717180	45	19407											
GPR64	10149	broad.mit.edu	37	X	19027859	19027859	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6396-01A-11D-1705-08	TCGA-DU-6396-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb4a697c-3444-49ed-9085-cec75607f61d	2c1dd78a-2e86-4815-b003-63d5cfc62e38	g.chrX:19027859A>T	ENST00000379878.3	-	17	1500	c.1259T>A	c.(1258-1260)tTt>tAt	p.F420Y	GPR64_ENST00000357991.3_Missense_Mutation_p.F433Y|GPR64_ENST00000356606.4_Missense_Mutation_p.F422Y|GPR64_ENST00000340581.3_Missense_Mutation_p.F406Y|GPR64_ENST00000379869.3_Missense_Mutation_p.F436Y|GPR64_ENST00000360279.4_Missense_Mutation_p.F414Y|GPR64_ENST00000357544.3_Missense_Mutation_p.F406Y|GPR64_ENST00000379876.1_Missense_Mutation_p.F412Y|GPR64_ENST00000354791.3_Missense_Mutation_p.F420Y|GPR64_ENST00000379873.2_Missense_Mutation_p.F436Y	NM_001184833.1	NP_001171762.1	Q8IZP9	GPR64_HUMAN	G protein-coupled receptor 64	436					neuropeptide signaling pathway|spermatogenesis	cytoplasm|integral to plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(18)|stomach(1)|urinary_tract(1)	42	Hepatocellular(33;0.183)					CGTGTTTGAAAAGTTCAGCTG	0.398													46	50					0	0	1	0	0	T	19027859	A	T	19027859	3	4	85	1	0	0	0	0	1	0	0	0	6745	14	1	5	1794	5	GPR64	23	19027859	Missense_Mutation	SNP	A	TCGA-DU-6396-01A-11D-1705-08		19027859	136242701	46	19408											
SAT1	6303	broad.mit.edu	37	X	23801978	23801978	+	Silent	SNP	G	G	A			TCGA-DU-6396-01A-11D-1705-08	TCGA-DU-6396-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb4a697c-3444-49ed-9085-cec75607f61d	2c1dd78a-2e86-4815-b003-63d5cfc62e38	g.chrX:23801978G>A	ENST00000379270.4	+	3	359	c.180G>A	c.(178-180)ccG>ccA	p.P60P	SAT1_ENST00000379254.1_Intron|SAT1_ENST00000379253.3_Silent_p.P60P|SAT1_ENST00000489394.1_3'UTR|SAT1_ENST00000379251.3_Silent_p.P90P	NM_002970.2	NP_002961.1	P21673	SAT1_HUMAN	spermidine/spermine N1-acetyltransferase 1	60	N-acetyltransferase.				angiogenesis|polyamine biosynthetic process	cytosol	diamine N-acetyltransferase activity|protein binding			breast(1)|endometrium(3)|kidney(3)|lung(3)	10					Spermine(DB00127)	CAGAAGTGCCGAAAGAGCACT	0.542													19	29					0	0	1	0	0	A	23801978	G	A	23801978	2	1	85	1	0	0	0	0	0	0	0	1	13904	1045	37	1		1	SAT1	23	23801978	Silent	SNP	G	TCGA-DU-6396-01A-11D-1705-08	4774119	23801978	131468582	47	19409											
POLA1	5422	broad.mit.edu	37	X	24735546	24735546	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-6396-01A-11D-1705-08	TCGA-DU-6396-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb4a697c-3444-49ed-9085-cec75607f61d	2c1dd78a-2e86-4815-b003-63d5cfc62e38	g.chrX:24735546G>C	ENST00000379068.3	+	9	889	c.846G>C	c.(844-846)gaG>gaC	p.E282D	POLA1_ENST00000379059.3_Missense_Mutation_p.E276D			P09884	DPOLA_HUMAN	polymerase (DNA directed), alpha 1, catalytic subunit	276					cell proliferation|DNA replication checkpoint|DNA replication, synthesis of RNA primer|DNA-dependent DNA replication initiation|double-strand break repair via nonhomologous end joining|interspecies interaction between organisms|lagging strand elongation|leading strand elongation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|cytoplasm|nuclear envelope|nuclear matrix|nucleolus|nucleoplasm	chromatin binding|DNA-directed DNA polymerase activity|metal ion binding|nucleoside binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|skin(2)	11					Clofarabine(DB00631)|Fludarabine(DB01073)	GGGACAAAGAGAGTGAGCCAG	0.498													16	24					0	0	1	0	0	C	24735546	G	C	24735546	3	2	85	1	0	0	0	0	1	0	0	0	12235	933	33	4	862	4	POLA1	23	24735546	Missense_Mutation	SNP	G	TCGA-DU-6396-01A-11D-1705-08	933568	24735546	130535014	48	19410											
TRO	7216	broad.mit.edu	37	X	54955789	54955789	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6396-01A-11D-1705-08	TCGA-DU-6396-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb4a697c-3444-49ed-9085-cec75607f61d	2c1dd78a-2e86-4815-b003-63d5cfc62e38	g.chrX:54955789G>A	ENST00000173898.7	+	12	2744	c.2632G>A	c.(2632-2634)Gtc>Atc	p.V878I	TRO_ENST00000319167.8_Intron|TRO_ENST00000375022.4_Intron|TRO_ENST00000399736.1_Intron|TRO_ENST00000420798.2_Missense_Mutation_p.V409I|TRO_ENST00000375041.2_Missense_Mutation_p.V481I	NM_001039705.2	NP_001034794.1	Q12816	TROP_HUMAN	trophinin	878	62 X 10 AA approximate tandem repeats.				embryo implantation|homophilic cell adhesion	integral to plasma membrane				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						AACGAGCACAGTCTTCAGTAG	0.567													24	36					0	0	1	0	0	A	54955789	G	A	54955789	3	1	85	1	0	0	0	0	1	0	0	0	16635	1029	36	2	2674	2	TRO	23	54955789	Missense_Mutation	SNP	G	TCGA-DU-6396-01A-11D-1705-08	30220243	54955789	100314771	49	19411											
ATRX	546	broad.mit.edu	37	X	76909629	76909629	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6396-01A-11D-1705-08	TCGA-DU-6396-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb4a697c-3444-49ed-9085-cec75607f61d	2c1dd78a-2e86-4815-b003-63d5cfc62e38	g.chrX:76909629G>A	ENST00000373344.5	-	14	4490	c.4276C>T	c.(4276-4278)Cga>Tga	p.R1426*	ATRX_ENST00000395603.3_Nonsense_Mutation_p.R1388*|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1426					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.R1426*(1)|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)	TTAATACGTCGCCTTTTCTTT	0.328			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						43	85					0	0	1	0	0	A	76909629	G	A	76909629	4	1	85	1	0	0	0	0	0	1	0	0	1206	1095	38	1	3290	1	ATRX	23	76909629	Nonsense_Mutation	SNP	G	TCGA-DU-6396-01A-11D-1705-08	21953840	76909629	78360931	50	19412											
FUBP1	8880	broad.mit.edu	37	1	78444677	78444678	+	Frame_Shift_Del	DEL	AT	AT	-			TCGA-DU-6397-01A-11D-1705-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678aeec7-2b41-46fc-b4c9-0c9f6b2018bb	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr1:78444677_78444678delAT	ENST00000370767.1	-	1	98_99	c.11_12delAT	c.(10-12)tatfs	p.Y4fs	FUBP1_ENST00000370768.2_Frame_Shift_Del_p.Y4fs|FUBP1_ENST00000436586.2_Frame_Shift_Del_p.Y4fs			Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1	4					transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						GCACTGTTGAATAGTCTGCCAT	0.559			"F, N"		oligodendroglioma								10	7	---	---	---	---						-	78444678	AT	-	78444677	7	5	86	1	0	1	0	1	0	0	0	0	6127	108	4	0	2002	0	FUBP1	1	78444677	Frame_Shift_Del	DEL	AT	TCGA-DU-6397-01A-11D-1705-08		78444677	170805944	1	19413											
FLG	2312	broad.mit.edu	37	1	152282972	152282972	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-6397-01A-11D-1705-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678aeec7-2b41-46fc-b4c9-0c9f6b2018bb	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr1:152282972C>G	ENST00000368799.1	-	3	4425	c.4390G>C	c.(4390-4392)Gga>Cga	p.G1464R	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1464	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCTTGTCTTCCTCCAGTGCTG	0.572									Ichthyosis				16	199					0	0	1	0	0	G	152282972	C	G	152282972	3	3	86	1	0	0	0	0	1	0	0	0	5955	690	24	4	7799	4	FLG	1	152282972	Missense_Mutation	SNP	C	TCGA-DU-6397-01A-11D-1705-08	73838295	152282972	96967649	2	19414											
RXRG	6258	broad.mit.edu	37	1	165389141	165389141	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6397-01A-11D-1705-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678aeec7-2b41-46fc-b4c9-0c9f6b2018bb	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr1:165389141T>A	ENST00000359842.5	-	3	710	c.408A>T	c.(406-408)aaA>aaT	p.K136N	RXRG_ENST00000470566.1_5'UTR	NM_001256570.1|NM_006917.4	NP_001243499.1|NP_008848.1	P48443	RXRG_HUMAN	retinoid X receptor, gamma	136	Modulating (By similarity).				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			endometrium(1)|kidney(3)|large_intestine(6)|lung(22)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	38	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)				Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tretinoin(DB00755)	CACAGATGTGTTTAACCAGAG	0.537													4	61					0	0	1	0	0	A	165389141	T	A	165389141	3	1	86	1	0	0	0	0	1	0	0	0	13817	1722	60	5	1015	5	RXRG	1	165389141	Missense_Mutation	SNP	T	TCGA-DU-6397-01A-11D-1705-08	13106169	165389141	83861480	3	19415											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-DU-6397-01A-11D-1705-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678aeec7-2b41-46fc-b4c9-0c9f6b2018bb	60cfef6e-ae32-4680-83e6-f969464d5805	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	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								34	55					0	0	1	0	0	T	209113112	C	T	209113112	3	4	86	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-DU-6397-01A-11D-1705-08		209113112	34086261	4	19416											
FRMD4B	23150	broad.mit.edu	37	3	69230517	69230518	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-DU-6397-01A-11D-1705-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678aeec7-2b41-46fc-b4c9-0c9f6b2018bb	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr3:69230517_69230518delTT	ENST00000542259.1	-	22	2672_2673	c.2221_2222delAA	c.(2221-2223)aagfs	p.K741fs	FRMD4B_ENST00000478263.1_Frame_Shift_Del_p.K447fs|FRMD4B_ENST00000398540.3_Frame_Shift_Del_p.K795fs			Q9Y2L6	FRM4B_HUMAN	FERM domain containing 4B	795						cytoplasm|cytoskeleton	binding			NS(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(2)	19		Lung NSC(201;0.0138)|Prostate(884;0.11)		BRCA - Breast invasive adenocarcinoma(55;0.000201)|Epithelial(33;0.00141)|LUSC - Lung squamous cell carcinoma(21;0.00999)|Lung(16;0.0182)		CTCCTGACTCTTTGAGTAAACA	0.446													11	49	---	---	---	---						-	69230518	TT	-	69230517	7	5	86	1	0	1	0	1	0	0	0	0	6087	1609	56	0	732	0	FRMD4B	3	69230517	Frame_Shift_Del	DEL	TT	TCGA-DU-6397-01A-11D-1705-08		69230517	128791913	5	19417											
GXYLT2	727936	broad.mit.edu	37	3	73024258	73024258	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DU-6397-01A-11D-1705-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678aeec7-2b41-46fc-b4c9-0c9f6b2018bb	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr3:73024258delG	ENST00000389617.4	+	7	1441	c.1280delG	c.(1279-1281)aggfs	p.R427fs		NM_001080393.1	NP_001073862.1	A0PJZ3	GXLT2_HUMAN	glucoside xylosyltransferase 2	427					O-glycan processing	integral to membrane	UDP-xylosyltransferase activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	18						ACAATGAAAAGGGCTTATGAG	0.413													9	88	---	---	---	---						-	73024258	G	-	73024258	7	5	86	1	0	1	0	1	0	0	0	0	6945	1000	35	0	1306	0	GXYLT2	3	73024258	Frame_Shift_Del	DEL	G	TCGA-DU-6397-01A-11D-1705-08	3793741	73024258	124998172	6	19418											
OR5AC2	81050	broad.mit.edu	37	3	97806608	97806608	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6397-01A-11D-1705-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678aeec7-2b41-46fc-b4c9-0c9f6b2018bb	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr3:97806608G>A	ENST00000358642.2	+	1	592	c.592G>A	c.(592-594)Gca>Aca	p.A198T		NM_054106.1	NP_473447.1	Q9NZP5	O5AC2_HUMAN	olfactory receptor, family 5, subfamily AC, member 2	198					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A198T(2)		endometrium(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	28						ATCTATTAACGCACTAATGAT	0.289													24	30					0	0	1	0	0	A	97806608	G	A	97806608	3	1	86	1	0	0	0	0	1	0	0	0	11188	1087	38	1	594	1	OR5AC2	3	97806608	Missense_Mutation	SNP	G	TCGA-DU-6397-01A-11D-1705-08	24782350	97806608	100215822	7	19419											
RETNLB	84666	broad.mit.edu	37	3	108475916	108475916	+	Silent	SNP	G	G	T			TCGA-DU-6397-01A-11D-1705-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678aeec7-2b41-46fc-b4c9-0c9f6b2018bb	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr3:108475916G>T	ENST00000295755.6	-	1	315	c.117C>A	c.(115-117)ctC>ctA	p.L39L		NM_032579.2	NP_115968.1	Q9BQ08	RETNB_HUMAN	resistin like beta	39					cell proliferation	extracellular region	hormone activity			endometrium(1)|kidney(3)|lung(10)|prostate(1)|skin(1)	16						CTAGACTGTTGAGAACATCCT	0.498													4	19					0.00024832	0.000261054	1	1	0	T	108475916	G	T	108475916	2	4	86	1	0	0	0	0	0	0	0	1	13289	1277	45	5		5	RETNLB	3	108475916	Silent	SNP	G	TCGA-DU-6397-01A-11D-1705-08	10669308	108475916	89546514	8	19420											
KIT	3815	broad.mit.edu	37	4	55573431	55573431	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6397-01A-11D-1705-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678aeec7-2b41-46fc-b4c9-0c9f6b2018bb	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr4:55573431T>A	ENST00000288135.5	+	6	1190	c.1093T>A	c.(1093-1095)Tct>Act	p.S365T		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	365	Ig-like C2-type 4.				male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular space|integral to membrane	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity			NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	TTATCCCAAGTCTGAGAATGA	0.403		1	"Mis, O"		"GIST, AML, TGCT, mastocytosis, mucosal melanoma"	"GIST, epithelioma"	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors				18	44					0	0	1	0	0	A	55573431	T	A	55573431	3	1	86	1	0	0	0	0	1	0	0	0	8372	1667	58	5	1115	5	KIT	4	55573431	Missense_Mutation	SNP	T	TCGA-DU-6397-01A-11D-1705-08		55573431	135580845	9	19421											
ALPK1	80216	broad.mit.edu	37	4	113352721	113352721	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6397-01A-11D-1705-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678aeec7-2b41-46fc-b4c9-0c9f6b2018bb	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr4:113352721C>A	ENST00000458497.1	+	11	2297	c.2018C>A	c.(2017-2019)cCc>cAc	p.P673H	ALPK1_ENST00000177648.9_Missense_Mutation_p.P673H|ALPK1_ENST00000504176.2_Missense_Mutation_p.P595H	NM_001102406.1|NM_025144.3	NP_001095876.1|NP_079420.3	Q96QP1	ALPK1_HUMAN	alpha-kinase 1	673							ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		CCCTTGACACCCTTCTCGCCT	0.493													14	42					3.52763e-06	3.909e-06	1	1	0	A	113352721	C	A	113352721	3	1	86	1	0	0	0	0	1	0	0	0	540	623	22	5	2052	5	ALPK1	4	113352721	Missense_Mutation	SNP	C	TCGA-DU-6397-01A-11D-1705-08	57779290	113352721	77801555	10	19422											
FSTL5	56884	broad.mit.edu	37	4	162577517	162577517	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6397-01A-11D-1705-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678aeec7-2b41-46fc-b4c9-0c9f6b2018bb	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr4:162577517T>C	ENST00000306100.5	-	7	1293	c.857A>G	c.(856-858)aAt>aGt	p.N286S	FSTL5_ENST00000511170.1_5'UTR|FSTL5_ENST00000536695.1_Missense_Mutation_p.N285S|FSTL5_ENST00000379164.4_Missense_Mutation_p.N285S|FSTL5_ENST00000427802.2_Missense_Mutation_p.N285S	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	286	Ig-like 1.					extracellular region	calcium ion binding			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		TAGAATAATATTGTTCCTTTT	0.353													13	22					0	0	1	0	0	C	162577517	T	C	162577517	3	2	86	1	0	0	0	0	1	0	0	0	6115	1493	52	3	1726	3	FSTL5	4	162577517	Missense_Mutation	SNP	T	TCGA-DU-6397-01A-11D-1705-08	49224796	162577517	28576759	11	19423	101	2									
FSTL5	56884	broad.mit.edu	37	4	162577525	162577525	+	Missense_Mutation	SNP	T	T	A	rs61746784		TCGA-DU-6397-01A-11D-1705-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678aeec7-2b41-46fc-b4c9-0c9f6b2018bb	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr4:162577525T>A	ENST00000306100.5	-	7	1285	c.849A>T	c.(847-849)aaA>aaT	p.K283N	FSTL5_ENST00000511170.1_5'UTR|FSTL5_ENST00000536695.1_Missense_Mutation_p.K282N|FSTL5_ENST00000379164.4_Missense_Mutation_p.K282N|FSTL5_ENST00000427802.2_Missense_Mutation_p.K282N	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	283	Ig-like 1.					extracellular region	calcium ion binding			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		TATTGTTCCTTTTCCAGATAA	0.353													14	27					0	0	1	0	0	A	162577525	T	A	162577525	3	1	86	1	0	0	0	0	1	0	0	0	6115	1838	64	5	1734	5	FSTL5	4	162577525	Missense_Mutation	SNP	T	TCGA-DU-6397-01A-11D-1705-08	8	162577525	28576751	12	19424	101	2									
MCC	4163	broad.mit.edu	37	5	112439958	112439958	+	Silent	SNP	G	G	T	rs142794653	byFrequency	TCGA-DU-6397-01A-11D-1705-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678aeec7-2b41-46fc-b4c9-0c9f6b2018bb	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr5:112439958G>T	ENST00000302475.4	-	5	1115	c.552C>A	c.(550-552)tcC>tcA	p.S184S	MCC_ENST00000514701.3_5'UTR|MCC_ENST00000408903.3_Silent_p.S374S|MCC_ENST00000515367.2_Silent_p.S121S	NM_002387.2	NP_002378	P23508	CRCM_HUMAN	mutated in colorectal cancers	184					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane	protein binding|receptor activity			endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		CCTCGGCCACGGAGAGGCTGC	0.572													26	101					2.49675e-24	2.92476e-24	1	1	0	T	112439958	G	T	112439958	2	4	86	1	0	0	0	0	0	0	0	1	9423	1103	39	5		5	MCC	5	112439958	Silent	SNP	G	TCGA-DU-6397-01A-11D-1705-08		112439958	68475302	13	19425											
UBLCP1	134510	broad.mit.edu	37	5	158697549	158697549	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6397-01A-11D-1705-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678aeec7-2b41-46fc-b4c9-0c9f6b2018bb	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr5:158697549C>A	ENST00000296786.6	+	5	672	c.346C>A	c.(346-348)Ctg>Atg	p.L116M		NM_145049.3	NP_659486.2	Q8WVY7	UBCP1_HUMAN	ubiquitin-like domain containing CTD phosphatase 1	116						nucleus	phosphoprotein phosphatase activity			endometrium(1)|kidney(3)|large_intestine(4)|ovary(1)	9	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AGAAAACCTACTGAAAATTTC	0.333													9	79					1.12685e-05	1.21581e-05	1	1	0	A	158697549	C	A	158697549	3	1	86	1	0	0	0	0	1	0	0	0	16952	564	20	4	360	4	UBLCP1	5	158697549	Missense_Mutation	SNP	C	TCGA-DU-6397-01A-11D-1705-08	46257591	158697549	22217711	14	19426											
RREB1	6239	broad.mit.edu	37	6	7229828	7229828	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6397-01A-11D-1705-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678aeec7-2b41-46fc-b4c9-0c9f6b2018bb	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr6:7229828C>T	ENST00000379938.2	+	10	2033	c.1496C>T	c.(1495-1497)gCg>gTg	p.A499V	RREB1_ENST00000379933.3_Missense_Mutation_p.A499V|RREB1_ENST00000349384.6_Missense_Mutation_p.A499V|RREB1_ENST00000334984.6_Missense_Mutation_p.A499V	NM_001003699.3|NM_001003700.1	NP_001003699.1|NP_001003700.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	499	Pro-rich.				multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				CCACTGCAGGCGATCTTCAAG	0.642													37	211					0	0	1	0	0	T	7229828	C	T	7229828	3	4	86	1	0	0	0	0	1	0	0	0	13731	768	27	1	1522	1	RREB1	6	7229828	Missense_Mutation	SNP	C	TCGA-DU-6397-01A-11D-1705-08		7229828	163885239	15	19427											
OR2H2	7932	broad.mit.edu	37	6	29556084	29556084	+	Silent	SNP	C	C	T			TCGA-DU-6397-01A-11D-1705-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678aeec7-2b41-46fc-b4c9-0c9f6b2018bb	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr6:29556084C>T	ENST00000383640.2	+	1	402	c.363C>T	c.(361-363)taC>taT	p.Y121Y	GABBR1_ENST00000355973.3_Intron	NM_007160.3	NP_009091.3	O95918	OR2H2_HUMAN	olfactory receptor, family 2, subfamily H, member 2	121					defense response|mating|sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|urinary_tract(1)	14						TTGATCGCTACGTGGCTGTCT	0.577													4	82					0	0	1	0	0	T	29556084	C	T	29556084	2	4	86	1	0	0	0	0	0	0	0	1	11050	547	19	1		1	OR2H2	6	29556084	Silent	SNP	C	TCGA-DU-6397-01A-11D-1705-08	22326256	29556084	141558983	16	19428											
GPR115	221393	broad.mit.edu	37	6	47682356	47682356	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6397-01A-11D-1705-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678aeec7-2b41-46fc-b4c9-0c9f6b2018bb	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr6:47682356A>G	ENST00000283303.2	+	6	1633	c.1375A>G	c.(1375-1377)Ata>Gta	p.I459V	GPR115_ENST00000327753.3_Missense_Mutation_p.I459V|GPR115_ENST00000371220.1_Missense_Mutation_p.I516V	NM_153838.3	NP_722580.3	Q8IZF3	GP115_HUMAN	G protein-coupled receptor 115	459					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	52						GTGGTTTATCATAGGCTCTCA	0.458													21	307					0	0	1	0	0	G	47682356	A	G	47682356	3	3	86	1	0	0	0	0	1	0	0	0	6672	217	8	3	1393	3	GPR115	6	47682356	Missense_Mutation	SNP	A	TCGA-DU-6397-01A-11D-1705-08	18126272	47682356	123432711	17	19429											
CNTNAP2	26047	broad.mit.edu	37	7	147914572	147914572	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-6397-01A-11D-1705-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678aeec7-2b41-46fc-b4c9-0c9f6b2018bb	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr7:147914572G>C	ENST00000361727.3	+	19	3719	c.3203G>C	c.(3202-3204)aGc>aCc	p.S1068T	CNTNAP2_ENST00000538075.1_Missense_Mutation_p.S127T	NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	1068	Laminin G-like 4.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			CTCTACATCAGCTCCTTCACC	0.557										HNSCC(39;0.1)			5	95					0	0	1	0	0	C	147914572	G	C	147914572	3	2	86	1	0	0	0	0	1	0	0	0	3670	971	34	4	3277	4	CNTNAP2	7	147914572	Missense_Mutation	SNP	G	TCGA-DU-6397-01A-11D-1705-08		147914572	11224091	18	19430											
C8orf47	203111	broad.mit.edu	37	8	99101783	99101784	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DU-6397-01A-11D-1705-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678aeec7-2b41-46fc-b4c9-0c9f6b2018bb	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr8:99101783_99101784insA	ENST00000318528.3	+	2	897_898	c.538_539insA	c.(538-540)caafs	p.Q180fs	C8orf47_ENST00000545282.1_Intron	NM_173549.2	NP_775820.2	Q6P6B1	CH047_HUMAN	chromosome 8 open reading frame 47	180										kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(2)	13	Breast(36;2.31e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.214)			TGAGAATCCACAAACTGCTGCA	0.52													10	28	---	---	---	---						A	99101784	-	A	99101783	7	5	86	1	0	1	1	0	0	0	0	0	2449	479	17	0	544	0	C8orf47	8	99101783	Frame_Shift_Ins	INS	-	TCGA-DU-6397-01A-11D-1705-08		99101783	47262239	19	19431											
ATAD2	29028	broad.mit.edu	37	8	124368657	124368657	+	Translation_Start_Site	SNP	G	G	A			TCGA-DU-6397-01A-11D-1705-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678aeec7-2b41-46fc-b4c9-0c9f6b2018bb	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr8:124368657G>A	ENST00000521903.1	-	0	1982				ATAD2_ENST00000287394.5_Missense_Mutation_p.R540W			Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2						regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			CTGCTTGACCGTACTGGAGCC	0.418													5	45					0	0	1	0	0	A	124368657	G	A	124368657	1	1	86	1	0	0	0	0	0	0	0	0	1070	1144	40	1		1	ATAD2	8	124368657	Translation_Start_Site	SNP	G	TCGA-DU-6397-01A-11D-1705-08	25266874	124368657	21995365	20	19432											
RUFY2	55680	broad.mit.edu	37	10	70141155	70141155	+	Splice_Site	SNP	T	T	C			TCGA-DU-6397-01A-11D-1705-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678aeec7-2b41-46fc-b4c9-0c9f6b2018bb	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr10:70141155T>C	ENST00000388768.2	-	11	1372	c.1046A>G	c.(1045-1047)gAt>gGt	p.D349G	RUFY2_ENST00000454950.2_Splice_Site_p.D256G|RUFY2_ENST00000399200.2_Splice_Site_p.D280G|RUFY2_ENST00000602465.1_Splice_Site_p.D314G|RUFY2_ENST00000472394.2_5'UTR	NM_017987.4	NP_060457.4	Q8WXA3	RUFY2_HUMAN	RUN and FYVE domain containing 2	363						nucleus	metal ion binding			NS(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)	20						ATTCTCTACATCCTGCAATTT	0.358													76	116					0	0	1	0	0	C	70141155	T	C	70141155	5	2	86	1	0	0	0	0	0	0	1	0	13791	1449	50	3	1024	3	RUFY2	10	70141155	Splice_Site	SNP	T	TCGA-DU-6397-01A-11D-1705-08		70141155	65393592	21	19433											
NOP2	4839	broad.mit.edu	37	12	6675419	6675419	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6397-01A-11D-1705-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678aeec7-2b41-46fc-b4c9-0c9f6b2018bb	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr12:6675419C>A	ENST00000541778.1	-	5	798	c.310G>T	c.(310-312)Gca>Tca	p.A104S	NOP2_ENST00000322166.5_Missense_Mutation_p.A108S|NOP2_ENST00000545200.1_Missense_Mutation_p.A104S|NOP2_ENST00000537442.1_Missense_Mutation_p.A108S|NOP2_ENST00000399466.2_Missense_Mutation_p.A104S|NOP2_ENST00000542015.1_Intron|NOP2_ENST00000382421.3_Missense_Mutation_p.A108S			P46087	NOP2_HUMAN	NOP2 nucleolar protein	108					positive regulation of cell proliferation|rRNA processing	nucleolus	protein binding|RNA binding|S-adenosylmethionine-dependent methyltransferase activity			breast(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	19						CTGCCAGGTGCTGGGCGCTTC	0.557													4	50					0.00909568	0.00909568	1	1	0	A	6675419	C	A	6675419	3	1	86	1	0	0	0	0	1	0	0	0	10585	797	28	4	2164	4	NOP2	12	6675419	Missense_Mutation	SNP	C	TCGA-DU-6397-01A-11D-1705-08		6675419	127176476	22	19434											
KRT3	3850	broad.mit.edu	37	12	53187894	53187896	+	Splice_Site	DEL	CTT	CTT	-			TCGA-DU-6397-01A-11D-1705-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678aeec7-2b41-46fc-b4c9-0c9f6b2018bb	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr12:53187894_53187896delCTT	ENST00000417996.2	-	2	939_941	c.865_867delAAG	c.(865-867)aagdel	p.K289del	KRT3_ENST00000309505.3_Splice_Site_p.K289del	NM_057088.2	NP_476429.2	P12035	K2C3_HUMAN	keratin 3	289	Coil 1B.|Rod.				epithelial cell differentiation|intermediate filament cytoskeleton organization	keratin filament	structural molecule activity			NS(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|skin(1)	23						CTGTCACTCACTTCTTCTTGAAG	0.591													10	123	---	---	---	---						-	53187896	CTT	-	53187894	8	5	86	1	0	1	0	1	0	0	1	0	8509	579	20	0	1051	0	KRT3	12	53187894	Splice_Site	DEL	CTT	TCGA-DU-6397-01A-11D-1705-08	46512475	53187894	80664001	23	19435											
OR4M1	441670	broad.mit.edu	37	14	20248557	20248557	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6397-01A-11D-1705-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678aeec7-2b41-46fc-b4c9-0c9f6b2018bb	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr14:20248557G>T	ENST00000315957.4	+	1	157	c.76G>T	c.(76-78)Gtc>Ttc	p.V26F		NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M, member 1	26					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GGTCCAACTAGTCCTATTTGT	0.388													29	276					4.40665e-25	5.3139e-25	1	1	0	T	20248557	G	T	20248557	3	4	86	1	0	0	0	0	1	0	0	0	11123	1029	36	4	78	4	OR4M1	14	20248557	Missense_Mutation	SNP	G	TCGA-DU-6397-01A-11D-1705-08		20248557	87100983	24	19436											
FUT8	2530	broad.mit.edu	37	14	66136042	66136042	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6397-01A-11D-1705-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678aeec7-2b41-46fc-b4c9-0c9f6b2018bb	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr14:66136042G>A	ENST00000360689.5	+	7	2406	c.679G>A	c.(679-681)Gtg>Atg	p.V227M	FUT8_ENST00000394585.1_Missense_Mutation_p.V227M|FUT8_ENST00000358307.2_Missense_Mutation_p.V98M|FUT8_ENST00000554765.1_3'UTR|FUT8_ENST00000557164.1_Missense_Mutation_p.V64M|FUT8_ENST00000394586.2_Missense_Mutation_p.V227M	NM_004480.4|NM_178155.2	NP_004471.4|NP_835368.1	Q9BYC5	FUT8_HUMAN	fucosyltransferase 8 (alpha (1,6) fucosyltransferase)	227					in utero embryonic development|L-fucose catabolic process|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein glycosylation in Golgi|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	glycoprotein 6-alpha-L-fucosyltransferase activity|SH3 domain binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	22				all cancers(60;0.00109)|OV - Ovarian serous cystadenocarcinoma(108;0.00242)|BRCA - Breast invasive adenocarcinoma(234;0.0114)		GCTCCATCATGTGGTCTACTG	0.473													4	58					0	0	1	0	0	A	66136042	G	A	66136042	3	1	86	1	0	0	0	0	1	0	0	0	6145	1377	48	2	796	2	FUT8	14	66136042	Missense_Mutation	SNP	G	TCGA-DU-6397-01A-11D-1705-08	45887485	66136042	41213498	25	19437											
DDX24	57062	broad.mit.edu	37	14	94528925	94528925	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6397-01A-11D-1705-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678aeec7-2b41-46fc-b4c9-0c9f6b2018bb	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr14:94528925G>A	ENST00000330836.5	-	3	892	c.761C>T	c.(760-762)gCg>gTg	p.A254V	DDX24_ENST00000544005.1_Missense_Mutation_p.A4V|DDX24_ENST00000555054.1_Missense_Mutation_p.A211V	NM_020414.3	NP_065147.1	Q9GZR7	DDX24_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 24	254	Helicase ATP-binding.				RNA metabolic process	cytoplasm|nucleolus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			cervix(3)|endometrium(4)|kidney(4)|large_intestine(5)|lung(3)|ovary(2)|skin(1)|urinary_tract(1)	23		all_cancers(154;0.12)		Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207)		CTGCAACACCGCATGAATCAT	0.458													20	70					0	0	1	0	0	A	94528925	G	A	94528925	3	1	86	1	0	0	0	0	1	0	0	0	4374	1087	38	1	1846	1	DDX24	14	94528925	Missense_Mutation	SNP	G	TCGA-DU-6397-01A-11D-1705-08	28392883	94528925	12820615	26	19438											
IQGAP1	8826	broad.mit.edu	37	15	91030731	91030731	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6397-01A-11D-1705-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678aeec7-2b41-46fc-b4c9-0c9f6b2018bb	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr15:91030731A>G	ENST00000268182.5	+	33	4289	c.4165A>G	c.(4165-4167)Aaa>Gaa	p.K1389E	IQGAP1_ENST00000560738.1_Missense_Mutation_p.K817E	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	1389	C2.				energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction	actin filament|cytoplasm|midbody|nucleus|plasma membrane	calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity			breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			TTTCAGTACAAAACGTTTAAT	0.463													7	20					0	0	1	0	0	G	91030731	A	G	91030731	3	3	86	1	0	0	0	0	1	0	0	0	7858	15	1	3	4295	3	IQGAP1	15	91030731	Missense_Mutation	SNP	A	TCGA-DU-6397-01A-11D-1705-08		91030731	11500661	27	19439											
PTX4	390667	broad.mit.edu	37	16	1537926	1537926	+	Missense_Mutation	SNP	C	C	T	rs150305846	byFrequency	TCGA-DU-6397-01A-11D-1705-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678aeec7-2b41-46fc-b4c9-0c9f6b2018bb	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr16:1537926C>T	ENST00000447419.2	-	2	212	c.187G>A	c.(187-189)Gcc>Acc	p.A63T	PTX4_ENST00000293922.1_Missense_Mutation_p.A58T|PTX4_ENST00000440447.2_Missense_Mutation_p.A63T			Q96A99	PTX4_HUMAN	pentraxin 4, long	63						extracellular region	metal ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17						TAGTTGCTGGCGATGTTCTGC	0.647													6	151					0	0	1	0	0	T	1537926	C	T	1537926	3	4	86	1	0	0	0	0	1	0	0	0	12875	768	27	1	1256	1	PTX4	16	1537926	Missense_Mutation	SNP	C	TCGA-DU-6397-01A-11D-1705-08		1537926	88816827	28	19440											
FBXW10	10517	broad.mit.edu	37	17	18653309	18653310	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DU-6397-01A-11D-1705-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678aeec7-2b41-46fc-b4c9-0c9f6b2018bb	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr17:18653309_18653310insT	ENST00000308799.4	+	3	1164_1165	c.945_946insT	c.(946-948)tttfs	p.F316fs	FBXW10_ENST00000301938.4_Intron|FBXW10_ENST00000395665.4_Intron|FBXW10_ENST00000395667.1_Intron			Q5XX13	FBW10_HUMAN	F-box and WD repeat domain containing 10	293	F-box.									NS(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42						CTGGGTCCATCTTTTTTTTTCC	0.535													7	132	---	---	---	---						T	18653310	-	T	18653309	7	5	86	1	0	1	1	0	0	0	0	0	5796	928	32	0		0	FBXW10	17	18653309	Frame_Shift_Ins	INS	-	TCGA-DU-6397-01A-11D-1705-08		18653309	62541901	29	19441											
NF1	4763	broad.mit.edu	37	17	29663350	29663350	+	Splice_Site	SNP	G	G	C			TCGA-DU-6397-01A-11D-1705-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678aeec7-2b41-46fc-b4c9-0c9f6b2018bb	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr17:29663350G>C	ENST00000358273.4	+	41	6389		c.e41-1		NF1_ENST00000356175.3_Splice_Site|NF1_ENST00000581113.2_Splice_Site	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1						actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(5)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TCTTCAACTAGATTACAGATC	0.328			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			4	68					0	0	1	0	0	C	29663350	G	C	29663350	5	2	86	1	0	0	0	0	0	0	1	0	10403	956	33	4	6229	4	NF1	17	29663350	Splice_Site	SNP	G	TCGA-DU-6397-01A-11D-1705-08	11010041	29663350	51531860	30	19442											
CACNA1G	8913	broad.mit.edu	37	17	48703623	48703623	+	Silent	SNP	A	A	G			TCGA-DU-6397-01A-11D-1705-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678aeec7-2b41-46fc-b4c9-0c9f6b2018bb	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr17:48703623A>G	ENST00000352832.5	+	34	6636	c.6264A>G	c.(6262-6264)ttA>ttG	p.L2088L	CACNA1G_ENST00000354983.4_Silent_p.L2181L|CACNA1G_ENST00000507896.1_Intron|CACNA1G_ENST00000507609.1_Silent_p.L2115L|CACNA1G_ENST00000507510.2_Silent_p.L2170L|CACNA1G_ENST00000510115.1_Silent_p.L2136L|CACNA1G_ENST00000360761.4_Silent_p.L2099L|CACNA1G_ENST00000513689.2_Silent_p.L2125L|CACNA1G_ENST00000503485.1_Silent_p.L2088L|CACNA1G_ENST00000358244.5_Intron|CACNA1G_ENST00000514079.1_Silent_p.L2129L|CACNA1G_ENST00000510366.1_Silent_p.L2070L|CACNA1G_ENST00000515411.1_Silent_p.L2152L|CACNA1G_ENST00000514717.1_Silent_p.L2065L|CACNA1G_ENST00000515765.1_Silent_p.L2159L|CACNA1G_ENST00000512389.1_Silent_p.L2111L|CACNA1G_ENST00000507336.1_Silent_p.L2204L|CACNA1G_ENST00000513964.1_Silent_p.L2077L|CACNA1G_ENST00000429973.2_Silent_p.L2104L|CACNA1G_ENST00000514181.1_Silent_p.L2097L|CACNA1G_ENST00000359106.5_Silent_p.L2215L|CACNA1G_ENST00000505165.1_Intron|CACNA1G_ENST00000502264.1_Silent_p.L2144L|CACNA1G_ENST00000515165.1_Silent_p.L2122L|CACNA1G_ENST00000442258.2_Silent_p.L2081L	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	2215					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	GAAGCAGCTTAGAGTTGGACA	0.642											OREG0024569	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	24					0	0	1	0	0	G	48703623	A	G	48703623	2	3	86	1	0	0	0	0	0	0	0	1	2562	417	15	3		3	CACNA1G	17	48703623	Silent	SNP	A	TCGA-DU-6397-01A-11D-1705-08	19040273	48703623	32491587	31	19443											
SSTR2	6752	broad.mit.edu	37	17	71166516	71166516	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-6397-01A-11D-1705-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678aeec7-2b41-46fc-b4c9-0c9f6b2018bb	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr17:71166516C>G	ENST00000357585.2	+	2	1427	c.1058C>G	c.(1057-1059)aCc>aGc	p.T353S	SSTR2_ENST00000315332.2_Intron|RP11-143K11.5_ENST00000580671.1_RNA	NM_001050.2	NP_001041.1	P30874	SSR2_HUMAN	somatostatin receptor 2	353					digestion|negative regulation of cell proliferation|response to nutrient	integral to plasma membrane	PDZ domain binding|somatostatin receptor activity			endometrium(2)|large_intestine(5)|lung(2)|prostate(2)	11			LUSC - Lung squamous cell carcinoma(166;0.197)			CTGAATGAGACCACGGAGACC	0.547													11	53					0	0	1	0	0	G	71166516	C	G	71166516	3	3	86	1	0	0	0	0	1	0	0	0	15254	507	18	5	1060	5	SSTR2	17	71166516	Missense_Mutation	SNP	C	TCGA-DU-6397-01A-11D-1705-08	22462893	71166516	10028694	32	19444											
C17orf62	79415	broad.mit.edu	37	17	80402421	80402423	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-DU-6397-01A-11D-1705-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678aeec7-2b41-46fc-b4c9-0c9f6b2018bb	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr17:80402421_80402423delCTC	ENST00000437807.2	-	7	660_662	c.343_345delGAG	c.(343-345)gagdel	p.E115del	C17orf62_ENST00000577436.1_In_Frame_Del_p.E101del|C17orf62_ENST00000336995.7_5'UTR|C17orf62_ENST00000583617.1_In_Frame_Del_p.E115del|C17orf62_ENST00000578919.1_In_Frame_Del_p.E115del|C17orf62_ENST00000577732.1_In_Frame_Del_p.E115del|C17orf62_ENST00000585080.1_In_Frame_Del_p.E115del|C17orf62_ENST00000306645.5_In_Frame_Del_p.E115del|C17orf62_ENST00000578913.1_In_Frame_Del_p.E115del|C17orf62_ENST00000434650.2_In_Frame_Del_p.E101del|C17orf62_ENST00000585064.1_In_Frame_Del_p.E115del|C17orf62_ENST00000342572.8_5'UTR	NM_001193653.1|NM_001193657.1	NP_001180582.1|NP_001180586.1	Q9BQA9	CQ062_HUMAN	chromosome 17 open reading frame 62	115						integral to membrane	protein binding			breast(2)|large_intestine(2)|skin(2)|urinary_tract(2)	8	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			ACCGGACCTTCTCCTCCTCCACG	0.655													7	67	---	---	---	---						-	80402423	CTC	-	80402421	7	5	86	1	0	1	0	1	0	0	0	0	1879	912	32	0	226	0	C17orf62	17	80402421	In_Frame_Del	DEL	CTC	TCGA-DU-6397-01A-11D-1705-08	9235905	80402421	792789	33	19445											
LAMA3	3909	broad.mit.edu	37	18	21474271	21474271	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6397-01A-11D-1705-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678aeec7-2b41-46fc-b4c9-0c9f6b2018bb	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr18:21474271A>T	ENST00000313654.9	+	43	5661	c.5420A>T	c.(5419-5421)aAc>aTc	p.N1807I	LAMA3_ENST00000269217.6_Missense_Mutation_p.N198I|LAMA3_ENST00000587184.1_Missense_Mutation_p.N198I|LAMA3_ENST00000399516.3_Missense_Mutation_p.N1807I	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	1807	Domain III A.|Laminin EGF-like 15; truncated.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GACTGCATAAACCAAGAACCC	0.378													4	54					0	0	1	0	0	T	21474271	A	T	21474271	3	4	86	1	0	0	0	0	1	0	0	0	8646	43	2	5	5765	5	LAMA3	18	21474271	Missense_Mutation	SNP	A	TCGA-DU-6397-01A-11D-1705-08		21474271	56602977	34	19446											
SS18	6760	broad.mit.edu	37	18	23632625	23632626	+	Frame_Shift_Del	DEL	AT	AT	-			TCGA-DU-6397-01A-11D-1705-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678aeec7-2b41-46fc-b4c9-0c9f6b2018bb	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr18:23632625_23632626delAT	ENST00000415083.2	-	5	624_625	c.569_570delAT	c.(568-570)tatfs	p.Y190fs	SS18_ENST00000539849.1_Frame_Shift_Del_p.Y108fs|SS18_ENST00000542743.1_Frame_Shift_Del_p.Y138fs|SS18_ENST00000542420.2_Frame_Shift_Del_p.Y167fs|SS18_ENST00000545952.1_Frame_Shift_Del_p.Y138fs|SS18_ENST00000269137.7_Frame_Shift_Del_p.Y190fs|SS18_ENST00000585241.1_5'UTR	NM_001007559.1|NM_005637.2	NP_001007560.1|NP_005628.2	Q15532	SSXT_HUMAN	synovial sarcoma translocation, chromosome 18	190	Gln-rich.				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	ligand-dependent nuclear receptor transcription coactivator activity|protein binding		SS18/SSX2(706)|SS18/SSX1(1169)|SS18/SSX4(12)	endometrium(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(1)	19	all_cancers(21;0.000194)|Lung NSC(5;0.000413)|all_lung(6;0.00118)|Ovarian(20;0.124)					GTCTGGGACCATAGTTTCCCAT	0.426			T	"SSX1,  SSX2"	synovial sarcoma								32	127	---	---	---	---						-	23632626	AT	-	23632625	7	5	86	1	0	1	0	1	0	0	0	0	15231	224	8	0	714	0	SS18	18	23632625	Frame_Shift_Del	DEL	AT	TCGA-DU-6397-01A-11D-1705-08	2158354	23632625	54444623	35	19447											
VAV1	7409	broad.mit.edu	37	19	6833209	6833209	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6397-01A-11D-1705-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678aeec7-2b41-46fc-b4c9-0c9f6b2018bb	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr19:6833209C>T	ENST00000304076.2	+	16	1617	c.1523C>T	c.(1522-1524)cCg>cTg	p.P508L	VAV1_ENST00000596764.1_Missense_Mutation_p.P476L|VAV1_ENST00000539284.1_Missense_Mutation_p.P411L|VAV1_ENST00000599806.1_Missense_Mutation_p.P453L|VAV1_ENST00000602142.1_Missense_Mutation_p.P508L	NM_001258206.1	NP_001245135.1	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	508					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						AACATCTATCCGGAGAATGCC	0.438													16	28					0	0	1	0	0	T	6833209	C	T	6833209	3	4	86	1	0	0	0	0	1	0	0	0	17191	652	23	1	1585	1	VAV1	19	6833209	Missense_Mutation	SNP	C	TCGA-DU-6397-01A-11D-1705-08		6833209	52295774	36	19448											
FXYD7	53822	broad.mit.edu	37	19	35642241	35642241	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6397-01A-11D-1705-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678aeec7-2b41-46fc-b4c9-0c9f6b2018bb	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr19:35642241A>G	ENST00000588265.1	+	3	201	c.146A>G	c.(145-147)gAc>gGc	p.D49G	FXYD7_ENST00000586063.1_Intron|FXYD7_ENST00000270310.2_Intron			P58549	FXYD7_HUMAN	FXYD domain containing ion transport regulator 7	46						integral to membrane	ion channel activity			NS(1)|endometrium(1)|lung(1)	3	all_lung(56;7.56e-09)|Lung NSC(56;1.1e-08)|Esophageal squamous(110;0.162)		Epithelial(14;2.32e-21)|OV - Ovarian serous cystadenocarcinoma(14;3.17e-20)|all cancers(14;2.43e-18)|LUSC - Lung squamous cell carcinoma(66;0.0849)			AGTAAGTGCGACCCATTCCTG	0.532													5	66					0	0	1	0	0	G	35642241	A	G	35642241	3	3	86	1	0	0	0	0	1	0	0	0	6158	290	10	3		3	FXYD7	19	35642241	Missense_Mutation	SNP	A	TCGA-DU-6397-01A-11D-1705-08	28809032	35642241	23486742	37	19449											
KRTAP10-7	386675	broad.mit.edu	37	21	46020984	46020984	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6397-01A-11D-1705-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678aeec7-2b41-46fc-b4c9-0c9f6b2018bb	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr21:46020984C>T	ENST00000380102.2	+	1	488	c.463C>T	c.(463-465)Ccc>Tcc	p.P155S	TSPEAR_ENST00000323084.4_Intron	NM_198689.2	NP_941962.1	P60409	KR107_HUMAN	keratin associated protein 10-7	155	30 X 5 AA repeats of C-C-X(3).					keratin filament				breast(1)|large_intestine(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8						CACCTCCTCCCCCTGCCAGCA	0.592													19	37					0	0	1	0	0	T	46020984	C	T	46020984	3	4	86	1	0	0	0	0	1	0	0	0	8557	623	22	2	454	2	KRTAP10-7	21	46020984	Missense_Mutation	SNP	C	TCGA-DU-6397-01A-11D-1705-08		46020984	2108911	38	19450											
ARHGEF10L	55160	broad.mit.edu	37	1	17950915	17950915	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr1:17950915G>A	ENST00000361221.3	+	13	1393	c.1234G>A	c.(1234-1236)Gac>Aac	p.D412N	ARHGEF10L_ENST00000375415.1_Missense_Mutation_p.D373N|ARHGEF10L_ENST00000469726.1_3'UTR|ARHGEF10L_ENST00000434513.1_Missense_Mutation_p.D412N|ARHGEF10L_ENST00000375408.3_Missense_Mutation_p.D190N|ARHGEF10L_ENST00000452522.1_Missense_Mutation_p.D373N|ARHGEF10L_ENST00000375420.3_Missense_Mutation_p.D170N|ARHGEF10L_ENST00000167825.4_Intron	NM_018125.3	NP_060595	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10-like	412	DH.				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		TGTGTACAGTGACTACGTGAA	0.557													4	105					0	0	0.009096	0	0	A	17950915	G	A	17950915	3	1	87	1	0	0	0	0	1	0	0	0	892	1290	45	2	1280	2	ARHGEF10L	1	17950915	Missense_Mutation	SNP	G	TCGA-DU-6399-01A-12D-1705-08		17950915	231299706	1	19451											
ZMPSTE24	10269	broad.mit.edu	37	1	40758165	40758165	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr1:40758165G>A	ENST00000372759.3	+	10	1417	c.1252G>A	c.(1252-1254)Gct>Act	p.A418T		NM_005857.4	NP_005848.2	O75844	FACE1_HUMAN	zinc metallopeptidase STE24	418						endoplasmic reticulum membrane|Golgi membrane|integral to membrane	metal ion binding|metalloexopeptidase activity			endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	16	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;6.3e-18)			TGAGTTTCAAGCTGATGCATT	0.388													23	108					0	0	0.014323	0	0	A	40758165	G	A	40758165	3	1	87	1	0	0	0	0	1	0	0	0	17756	971	34	2	1290	2	ZMPSTE24	1	40758165	Missense_Mutation	SNP	G	TCGA-DU-6399-01A-12D-1705-08	22807250	40758165	208492456	2	19452											
MAST2	23139	broad.mit.edu	37	1	46474027	46474027	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr1:46474027A>G	ENST00000361297.2	+	9	1245	c.962A>G	c.(961-963)aAa>aGa	p.K321R	MAST2_ENST00000372009.2_Missense_Mutation_p.K321R	NM_015112.2	NP_055927.2	Q6P0Q8	MAST2_HUMAN	microtubule associated serine/threonine kinase 2	321					regulation of interleukin-12 biosynthetic process|spermatid differentiation	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity			breast(1)|lung(3)|ovary(5)|stomach(2)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)					CATGTTTACAAAGAAAGATTC	0.433													8	31					0	0	0.00308	0	0	G	46474027	A	G	46474027	3	3	87	1	0	0	0	0	1	0	0	0	9375	14	1	3	996	3	MAST2	1	46474027	Missense_Mutation	SNP	A	TCGA-DU-6399-01A-12D-1705-08	5715862	46474027	202776594	3	19453											
LRRIQ3	127255	broad.mit.edu	37	1	74507115	74507115	+	Silent	SNP	T	T	C			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr1:74507115T>C	ENST00000354431.4	-	7	1691	c.1500A>G	c.(1498-1500)agA>agG	p.R500R	LRRIQ3_ENST00000395089.1_Silent_p.R500R	NM_001105659.1	NP_001099129.1	A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	500										NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						ACAGAGCTTTTCTCTCTCTAG	0.338													6	136					0	0	0.001168	0	0	C	74507115	T	C	74507115	2	2	87	1	0	0	0	0	0	0	0	1	9075	1780	62	3		3	LRRIQ3	1	74507115	Silent	SNP	T	TCGA-DU-6399-01A-12D-1705-08	28033088	74507115	174743506	4	19454											
NTNG1	22854	broad.mit.edu	37	1	107973470	107973470	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr1:107973470T>C	ENST00000370068.1	+	6	2032	c.1186T>C	c.(1186-1188)Tgt>Cgt	p.C396R	NTNG1_ENST00000370065.1_Missense_Mutation_p.C396R|NTNG1_ENST00000370074.4_Intron|NTNG1_ENST00000370067.1_Intron|NTNG1_ENST00000370072.3_Missense_Mutation_p.C396R|NTNG1_ENST00000370061.3_Intron|NTNG1_ENST00000542803.1_Missense_Mutation_p.C396R|NTNG1_ENST00000370073.2_Missense_Mutation_p.C396R|NTNG1_ENST00000370070.2_Intron|NTNG1_ENST00000370066.1_Intron|NTNG1_ENST00000370071.2_Intron			Q9Y2I2	NTNG1_HUMAN	netrin G1	396	Laminin EGF-like 2.				axonogenesis	anchored to plasma membrane	protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1)	37		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)		AGGGCAGCACTGTGAGTTATG	0.443													3	33					0	0	0.004672	0	0	C	107973470	T	C	107973470	3	2	87	1	0	0	0	0	1	0	0	0	10752	1580	55	3	1338	3	NTNG1	1	107973470	Missense_Mutation	SNP	T	TCGA-DU-6399-01A-12D-1705-08	33466355	107973470	141277151	5	19455											
LMX1A	4009	broad.mit.edu	37	1	165183011	165183011	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr1:165183011T>C	ENST00000342310.3	-	5	918	c.536A>G	c.(535-537)cAt>cGt	p.H179R	LMX1A_ENST00000367893.4_Missense_Mutation_p.H179R|LMX1A_ENST00000294816.2_Missense_Mutation_p.H179R	NM_177398.3	NP_796372.1	Q8TE12	LMX1A_HUMAN	LIM homeobox transcription factor 1, alpha	179						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)	35	all_hematologic(923;0.248)					CCCTGCCCCATGGGCTGACTT	0.498													91	97					0	0	0.01441	0	0	C	165183011	T	C	165183011	3	2	87	1	0	0	0	0	1	0	0	0	8902	1464	51	3	632	3	LMX1A	1	165183011	Missense_Mutation	SNP	T	TCGA-DU-6399-01A-12D-1705-08	57209541	165183011	84067610	6	19456											
RXRG	6258	broad.mit.edu	37	1	165386373	165386373	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr1:165386373C>T	ENST00000359842.5	-	4	829	c.527G>A	c.(526-528)cGg>cAg	p.R176Q	RXRG_ENST00000470566.1_5'UTR	NM_001256570.1|NM_006917.4	NP_001243499.1|NP_008848.1	P48443	RXRG_HUMAN	retinoid X receptor, gamma	176					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			endometrium(1)|kidney(3)|large_intestine(6)|lung(22)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	38	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)				Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tretinoin(DB00755)	TTTATTATCCCGACACGTGTA	0.498													4	103					0	0	0.009096	0	0	T	165386373	C	T	165386373	3	4	87	1	0	0	0	0	1	0	0	0	13817	652	23	1	892	1	RXRG	1	165386373	Missense_Mutation	SNP	C	TCGA-DU-6399-01A-12D-1705-08	203362	165386373	83864248	7	19457											
TOR1AIP2	163590	broad.mit.edu	37	1	179815253	179815253	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr1:179815253G>A	ENST00000367612.3	-	6	1753	c.1366C>T	c.(1366-1368)Cca>Tca	p.P456S	TOR1AIP2_ENST00000609928.1_Missense_Mutation_p.P456S	NM_145034.4	NP_659471.1	Q8NFQ8	TOIP2_HUMAN	torsin A interacting protein 2	456						endoplasmic reticulum membrane|integral to membrane	protein binding			cervix(1)|endometrium(3)|large_intestine(1)|lung(10)|ovary(1)|skin(2)	18						GGCTGGACTGGCAGTACCAGG	0.463													3	71					0	0	0.004672	0	0	A	179815253	G	A	179815253	3	1	87	1	0	0	0	0	1	0	0	0	16434	1203	42	2	50	2	TOR1AIP2	1	179815253	Missense_Mutation	SNP	G	TCGA-DU-6399-01A-12D-1705-08	14428880	179815253	69435368	8	19458											
HMCN1	83872	broad.mit.edu	37	1	185951454	185951454	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr1:185951454C>T	ENST00000271588.4	+	18	2952	c.2723C>T	c.(2722-2724)aCt>aTt	p.T908I	HMCN1_ENST00000485744.1_3'UTR|HMCN1_ENST00000367492.2_Missense_Mutation_p.T908I	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	908	Ig-like C2-type 6.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CAGCAGCTTACTTTGCCCTGT	0.418													36	108					0	0	0.003271	0	0	T	185951454	C	T	185951454	3	4	87	1	0	0	0	0	1	0	0	0	7261	565	20	2	2793	2	HMCN1	1	185951454	Missense_Mutation	SNP	C	TCGA-DU-6399-01A-12D-1705-08	6136201	185951454	63299167	9	19459											
THSD7B	80731	broad.mit.edu	37	2	138320879	138320879	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr2:138320879T>A	ENST00000409968.1	+	16	3405	c.3227T>A	c.(3226-3228)cTg>cAg	p.L1076Q	THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000272643.3_Missense_Mutation_p.L1079Q|THSD7B_ENST00000413152.2_Missense_Mutation_p.L1048Q					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		AACAATGAGCTGAGGTCCCTG	0.443													4	33					0	0	0.009096	0	0	A	138320879	T	A	138320879	3	1	87	1	0	0	0	0	1	0	0	0	15940	1580	55	5	3197	5	THSD7B	2	138320879	Missense_Mutation	SNP	T	TCGA-DU-6399-01A-12D-1705-08		138320879	104878494	10	19460											
SCN7A	6332	broad.mit.edu	37	2	167298214	167298214	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr2:167298214T>C	ENST00000409855.1	-	14	1975	c.1849A>G	c.(1849-1851)Atg>Gtg	p.M617V		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	617					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						AGAGACCACATCAAAATCTGG	0.383													16	36					0	0	0.004007	0	0	C	167298214	T	C	167298214	3	2	87	1	0	0	0	0	1	0	0	0	13977	1435	50	3	3247	3	SCN7A	2	167298214	Missense_Mutation	SNP	T	TCGA-DU-6399-01A-12D-1705-08	28977335	167298214	75901159	11	19461											
COL3A1	1281	broad.mit.edu	37	2	189867065	189867065	+	Silent	SNP	C	C	T			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr2:189867065C>T	ENST00000304636.3	+	35	2603	c.2433C>T	c.(2431-2433)ttC>ttT	p.F811F	COL3A1_ENST00000317840.5_Silent_p.F811F	NM_000090.3	NP_000081	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	811	Triple-helical region.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	CTGCTGGTTTCCCTGGTGCTC	0.438													4	39					0	0	0.000602	0	0	T	189867065	C	T	189867065	2	4	87	1	0	0	0	0	0	0	0	1	3711	854	30	2		2	COL3A1	2	189867065	Silent	SNP	C	TCGA-DU-6399-01A-12D-1705-08	22568851	189867065	53332308	12	19462											
NEU2	4759	broad.mit.edu	37	2	233899633	233899633	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr2:233899633C>A	ENST00000233840.3	+	2	1009	c.1009C>A	c.(1009-1011)Ctc>Atc	p.L337I		NM_005383.2	NP_005374.2	Q9Y3R4	NEUR2_HUMAN	sialidase 2 (cytosolic sialidase)	337							exo-alpha-sialidase activity			endometrium(3)|large_intestine(2)|lung(10)|skin(2)|urinary_tract(1)	18		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0271)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0839)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0488)		CTACTCAGACCTCCAGAGCAT	0.607													18	128					5.01169e-05	5.36967e-05	0.00499	1	0	A	233899633	C	A	233899633	3	1	87	1	0	0	0	0	1	0	0	0	10389	681	24	4	1015	4	NEU2	2	233899633	Missense_Mutation	SNP	C	TCGA-DU-6399-01A-12D-1705-08	44032568	233899633	9299740	13	19463											
PPARG	5468	broad.mit.edu	37	3	12458613	12458613	+	Silent	SNP	C	C	T	rs148844673		TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr3:12458613C>T	ENST00000397026.2	+	8	1547	c.1164C>T	c.(1162-1164)agC>agT	p.S388S	PPARG_ENST00000397010.2_Silent_p.S382S|PPARG_ENST00000309576.6_Silent_p.S382S|PPARG_ENST00000397000.1_Intron|PPARG_ENST00000287820.6_Silent_p.S410S|PPARG_ENST00000397015.2_Silent_p.S382S|PPARG_ENST00000539812.1_Intron|PPARG_ENST00000397012.2_Silent_p.S382S			P37231	PPARG_HUMAN	peroxisome proliferator-activated receptor gamma	410	Ligand-binding.		F -> L (in FPLD3).		activation of caspase activity|cell fate commitment|cell maturation|cellular response to insulin stimulus|epithelial cell differentiation|glucose homeostasis|induction of apoptosis|innate immune response|lipid homeostasis|lipoprotein transport|long-chain fatty acid transport|low-density lipoprotein particle receptor biosynthetic process|monocyte differentiation|negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|placenta development|positive regulation of fat cell differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to lipid|response to low-density lipoprotein particle stimulus|white fat cell differentiation	cytosol|nucleoplasm	activating transcription factor binding|arachidonic acid binding|drug binding|enzyme binding|prostaglandin receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding		PAX8/PPARG(117)	breast(2)|endometrium(4)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20					Atorvastatin(DB01076)|Icosapent(DB00159)|Pioglitazone(DB01132)|Rosiglitazone(DB00412)|Troglitazone(DB00197)	TAGATGACAGCGACTTGGCAA	0.428			T	PAX8	follicular thyroid		"Insulin resistance ; lipodystrophy, familial partial L;diabetes mellitus, insulin-resistantI, with acanthosis nigricans and hypertension"						7	44					0	0	0.001984	0	0	T	12458613	C	T	12458613	2	4	87	1	0	0	0	0	0	0	0	1	12344	767	27	1		1	PPARG	3	12458613	Silent	SNP	C	TCGA-DU-6399-01A-12D-1705-08		12458613	185563817	14	19464											
TFRC	7037	broad.mit.edu	37	3	195800987	195800987	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr3:195800987A>G	ENST00000360110.4	-	4	417	c.248T>C	c.(247-249)aTt>aCt	p.I83T	TFRC_ENST00000535031.1_Intron|TFRC_ENST00000540528.1_3'UTR|TFRC_ENST00000392396.3_Missense_Mutation_p.I83T|TFRC_ENST00000420415.1_Missense_Mutation_p.I2T	NM_001128148.1	NP_001121620.1	P02786	TFR1_HUMAN	transferrin receptor	83					cellular iron ion homeostasis|endocytosis|interspecies interaction between organisms|proteolysis|transferrin transport|transmembrane transport	coated pit|endosome|integral to plasma membrane|melanosome	peptidase activity|transferrin receptor activity			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_cancers(143;1.94e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.36e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.17e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00233)		CAAGTAGCCAATCATAAATCC	0.423			T	BCL6	NHL								11	45					0	0	0.008291	0	0	G	195800987	A	G	195800987	3	3	87	1	0	0	0	0	1	0	0	0	15872	101	4	3	2098	3	TFRC	3	195800987	Missense_Mutation	SNP	A	TCGA-DU-6399-01A-12D-1705-08	183342374	195800987	2221443	15	19465											
GPR125	166647	broad.mit.edu	37	4	22436987	22436987	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr4:22436987C>T	ENST00000334304.5	-	10	1659	c.1390G>A	c.(1390-1392)Gca>Aca	p.A464T	GPR125_ENST00000502482.1_Missense_Mutation_p.A464T|GPR125_ENST00000508133.1_Missense_Mutation_p.A238T|GPR125_ENST00000282943.5_5'UTR	NM_145290.3	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	464					neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				ATCATTTCTGCCACAAATATA	0.393													11	49					0	0	0.008291	0	0	T	22436987	C	T	22436987	3	4	87	1	0	0	0	0	1	0	0	0	6679	739	26	2	2615	2	GPR125	4	22436987	Missense_Mutation	SNP	C	TCGA-DU-6399-01A-12D-1705-08		22436987	168717289	16	19466											
C6orf222	389384	broad.mit.edu	37	6	36290199	36290199	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr6:36290199G>A	ENST00000437635.2	-	9	1669	c.1492C>T	c.(1492-1494)Cgg>Tgg	p.R498W		NM_001010903.4	NP_001010903.3	P0C671	CF222_HUMAN	chromosome 6 open reading frame 222	498										breast(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(4)|urinary_tract(4)	26						AGGGGCTCCCGGCACTCGAGA	0.567													11	75					0	0	0.010729	0	0	A	36290199	G	A	36290199	3	1	87	1	0	0	0	0	1	0	0	0	2370	1115	39	1	482	1	C6orf222	6	36290199	Missense_Mutation	SNP	G	TCGA-DU-6399-01A-12D-1705-08		36290199	134824868	17	19467											
TMEM63B	55362	broad.mit.edu	37	6	44116117	44116117	+	Silent	SNP	C	C	T			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr6:44116117C>T	ENST00000259746.9	+	13	1299	c.1116C>T	c.(1114-1116)acC>acT	p.T372T	TMEM63B_ENST00000323267.6_Silent_p.T372T			Q5T3F8	TM63B_HUMAN	transmembrane protein 63B	372						integral to membrane	nucleotide binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(2)|prostate(2)|stomach(4)	35	all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0215)			AGACTATCACCGCCATGTGAG	0.592													6	83					0	0	0.001984	0	0	T	44116117	C	T	44116117	2	4	87	1	0	0	0	0	0	0	0	1	16251	639	23	1		1	TMEM63B	6	44116117	Silent	SNP	C	TCGA-DU-6399-01A-12D-1705-08	7825918	44116117	126998950	18	19468											
HCRTR2	3062	broad.mit.edu	37	6	55147128	55147128	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr6:55147128delG	ENST00000370862.3	+	7	1547	c.1211delG	c.(1210-1212)cggfs	p.R404fs		NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2	404					feeding behavior	integral to plasma membrane	neuropeptide receptor activity			breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			ACAGAGAGCCGGAAGTCCTTG	0.483													12	25	---	---	---	---						-	55147128	G	-	55147128	7	5	87	1	0	1	0	1	0	0	0	0	7043	1116	39	0	1237	0	HCRTR2	6	55147128	Frame_Shift_Del	DEL	G	TCGA-DU-6399-01A-12D-1705-08	11031011	55147128	115967939	19	19469											
FILIP1	27145	broad.mit.edu	37	6	76124523	76124523	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr6:76124523T>C	ENST00000393004.2	-	2	387	c.166A>G	c.(166-168)Aaa>Gaa	p.K56E	FILIP1_ENST00000237172.7_Missense_Mutation_p.K56E			Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	56										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						AGGTGTCGTTTGACAGTTCCT	0.403													104	138					0	0	0.01441	0	0	C	76124523	T	C	76124523	3	2	87	1	0	0	0	0	1	0	0	0	5927	1821	63	3	3495	3	FILIP1	6	76124523	Missense_Mutation	SNP	T	TCGA-DU-6399-01A-12D-1705-08	20977395	76124523	94990544	20	19470											
ZNF292	23036	broad.mit.edu	37	6	87966561	87966561	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr6:87966561G>C	ENST00000369577.3	+	8	3257	c.3214G>C	c.(3214-3216)Gca>Cca	p.A1072P	ZNF292_ENST00000339907.4_Missense_Mutation_p.A1067P	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	1072					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		AGAAAGTATTGCATTTGTTCC	0.373													6	76					0	0	0.001984	0	0	C	87966561	G	C	87966561	3	2	87	1	0	0	0	0	1	0	0	0	17883	1319	46	5	3244	5	ZNF292	6	87966561	Missense_Mutation	SNP	G	TCGA-DU-6399-01A-12D-1705-08	11842038	87966561	83148506	21	19471											
FRK	2444	broad.mit.edu	37	6	116381413	116381413	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr6:116381413G>A	ENST00000606080.1	-	1	508	c.62C>T	c.(61-63)aCg>aTg	p.T21M		NM_002031.2	NP_002022.1	P42685	FRK_HUMAN	fyn-related kinase	21					negative regulation of cell proliferation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|skin(1)|urinary_tract(1)	27		all_cancers(87;0.00559)|all_epithelial(87;0.00738)|Colorectal(196;0.0465)		all cancers(137;0.0128)|OV - Ovarian serous cystadenocarcinoma(136;0.0209)|GBM - Glioblastoma multiforme(226;0.0459)|Epithelial(106;0.0625)		GTCTGCCTCCGTGGACAAACA	0.537													9	110					0	0	0.013537	0	0	A	116381413	G	A	116381413	3	1	87	1	0	0	0	0	1	0	0	0	6083	1145	40	1	1487	1	FRK	6	116381413	Missense_Mutation	SNP	G	TCGA-DU-6399-01A-12D-1705-08	28414852	116381413	54733654	22	19472											
SLC22A2	6582	broad.mit.edu	37	6	160679569	160679569	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr6:160679569G>A	ENST00000366952.1	-	3	1639	c.158C>T	c.(157-159)aCg>aTg	p.T53M	SLC22A2_ENST00000366953.3_Missense_Mutation_p.T74M|SLC22A2_ENST00000491092.1_5'UTR			O15244	S22A2_HUMAN	solute carrier family 22 (organic cation transporter), member 2	74					body fluid secretion|neurotransmitter biosynthetic process|neurotransmitter secretion	integral to plasma membrane|membrane fraction	neurotransmitter transporter activity|organic cation transmembrane transporter activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(16)|prostate(2)|skin(1)	27		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06)		GCCCGGCACCGTGTAGTTCAG	0.672													8	44					0	0	0.00308	0	0	A	160679569	G	A	160679569	3	1	87	1	0	0	0	0	1	0	0	0	14506	1145	40	1	1490	1	SLC22A2	6	160679569	Missense_Mutation	SNP	G	TCGA-DU-6399-01A-12D-1705-08	44298156	160679569	10435498	23	19473											
WIPI2	26100	broad.mit.edu	37	7	5270498	5270498	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr7:5270498G>A	ENST00000288828.4	+	13	1517	c.1285G>A	c.(1285-1287)Gcc>Acc	p.A429T	WIPI2_ENST00000382384.2_Missense_Mutation_p.A400T|WIPI2_ENST00000484262.1_Missense_Mutation_p.A359T|WIPI2_ENST00000401525.3_Missense_Mutation_p.A411T|WIPI2_ENST00000404704.3_Missense_Mutation_p.A418T	NM_001033518.1|NM_001278299.1|NM_015610.3	NP_001028690.1|NP_001265228.1|NP_056425.1	Q9Y4P8	WIPI2_HUMAN	WD repeat domain, phosphoinositide interacting 2	429					autophagic vacuole assembly	cytosol|PAS complex|pre-autophagosomal structure membrane	phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)	16		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0925)|OV - Ovarian serous cystadenocarcinoma(56;2.59e-14)		TGTGGGTGGCGCCTGCCTGGA	0.612													11	33					0	0	0.008291	0	0	A	5270498	G	A	5270498	3	1	87	1	0	0	0	0	1	0	0	0	17431	1087	38	1	1369	1	WIPI2	7	5270498	Missense_Mutation	SNP	G	TCGA-DU-6399-01A-12D-1705-08		5270498	153868165	24	19474											
ZDHHC4	55146	broad.mit.edu	37	7	6624735	6624735	+	Silent	SNP	C	C	T			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr7:6624735C>T	ENST00000396706.2	+	7	1028	c.585C>T	c.(583-585)ctC>ctT	p.L195L	AC079742.4_ENST00000434951.1_RNA|ZDHHC4_ENST00000396709.1_Silent_p.L195L|ZDHHC4_ENST00000405731.3_Silent_p.L195L|ZDHHC4_ENST00000396707.2_Silent_p.L195L|ZDHHC4_ENST00000335965.6_Silent_p.L195L|ZDHHC4_ENST00000396713.2_Silent_p.L195L			Q9NPG8	ZDHC4_HUMAN	zinc finger, DHHC-type containing 4	195						integral to membrane	acyltransferase activity|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.1)		GGTACTTCCTCATCTACGTCT	0.527													3	42					0	0	0.004672	0	0	T	6624735	C	T	6624735	2	4	87	1	0	0	0	0	0	0	0	1	17675	813	29	2		2	ZDHHC4	7	6624735	Silent	SNP	C	TCGA-DU-6399-01A-12D-1705-08	1354237	6624735	152513928	25	19475											
COBL	23242	broad.mit.edu	37	7	51287614	51287614	+	Silent	SNP	T	T	G	rs145775268	by1000genomes	TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr7:51287614T>G	ENST00000395542.2	-	2	253	c.69A>C	c.(67-69)ccA>ccC	p.P23P	COBL_ENST00000265136.7_Silent_p.P23P|COBL_ENST00000395540.2_Silent_p.P23P|COBL_ENST00000441453.1_Silent_p.P23P			O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	23	Poly-Pro.									NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					TTCCAGGAGGTGGGGGAGCAC	0.552													4	36					0	0	0.000602	0	0	G	51287614	T	G	51287614	2	3	87	1	0	0	0	0	0	0	0	1	3676	1683	59	5		5	COBL	7	51287614	Silent	SNP	T	TCGA-DU-6399-01A-12D-1705-08	44662879	51287614	107851049	26	19476											
RP1	6101	broad.mit.edu	37	8	55541622	55541622	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr8:55541622A>G	ENST00000220676.1	+	4	5328	c.5180A>G	c.(5179-5181)gAt>gGt	p.D1727G		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1727					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			AAACAAAATGATGATAGCAGA	0.393													6	72					0	0	0.001168	0	0	G	55541622	A	G	55541622	3	3	87	1	0	0	0	0	1	0	0	0	13584	333	12	3	5190	3	RP1	8	55541622	Missense_Mutation	SNP	A	TCGA-DU-6399-01A-12D-1705-08		55541622	90822400	27	19477											
XKR9	389668	broad.mit.edu	37	8	71646325	71646325	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr8:71646325A>G	ENST00000408926.3	+	5	1322	c.788A>G	c.(787-789)tAt>tGt	p.Y263C	XKR9_ENST00000520030.1_Missense_Mutation_p.Y263C|XKR9_ENST00000520273.1_Intron	NM_001011720.1	NP_001011720.1	Q5GH70	XKR9_HUMAN	XK, Kell blood group complex subunit-related family, member 9	263						integral to membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(4)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19	Breast(64;0.0716)		Epithelial(68;0.00301)|all cancers(69;0.0165)|OV - Ovarian serous cystadenocarcinoma(28;0.0524)|BRCA - Breast invasive adenocarcinoma(89;0.166)			GAATTCTTATATAGGATTGTT	0.289													20	56					0	0	0.007413	0	0	G	71646325	A	G	71646325	3	3	87	1	0	0	0	0	1	0	0	0	17498	449	16	3	798	3	XKR9	8	71646325	Missense_Mutation	SNP	A	TCGA-DU-6399-01A-12D-1705-08	16104703	71646325	74717697	28	19478											
ANKRD30A	91074	broad.mit.edu	37	10	37508692	37508692	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr10:37508692C>A	ENST00000374660.1	+	40	4340	c.4241C>A	c.(4240-4242)aCa>aAa	p.T1414K	ANKRD30A_ENST00000602533.1_Missense_Mutation_p.T1295K|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.T1295K			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	1351						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						AGCAAGATAACAATTGATATT	0.294													9	24					2.17888e-05	2.39145e-05	0.006214	1	0	A	37508692	C	A	37508692	3	1	87	1	0	0	0	0	1	0	0	0	654	478	17	5	4018	5	ANKRD30A	10	37508692	Missense_Mutation	SNP	C	TCGA-DU-6399-01A-12D-1705-08		37508692	98026055	29	19479											
OR13A1	79290	broad.mit.edu	37	10	45799644	45799644	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr10:45799644G>C	ENST00000553795.1	-	4	535	c.227C>G	c.(226-228)cCt>cGt	p.P76R	OR13A1_ENST00000536058.1_Missense_Mutation_p.P76R|OR13A1_ENST00000374401.2_Missense_Mutation_p.P76R	NM_001004297.2	NP_001004297.2	Q8NGR1	O13A1_HUMAN	olfactory receptor, family 13, subfamily A, member 1	76					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2)|urinary_tract(1)	19						AAAGTACATAGGAGCGTGGAG	0.517													6	19					0	0	0.001984	0	0	C	45799644	G	C	45799644	3	2	87	1	0	0	0	0	1	0	0	0	10981	1000	35	4	763	4	OR13A1	10	45799644	Missense_Mutation	SNP	G	TCGA-DU-6399-01A-12D-1705-08	8290952	45799644	89735103	30	19480											
POLR3A	11128	broad.mit.edu	37	10	79785906	79785906	+	Silent	SNP	G	G	A			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr10:79785906G>A	ENST00000372371.3	-	2	263	c.126C>T	c.(124-126)taC>taT	p.Y42Y		NM_007055.3	NP_008986.2	O14802	RPC1_HUMAN	polymerase (RNA) III (DNA directed) polypeptide A, 155kDa	42					innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding			breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)			TGTCCTGGCTGTACAGGTTCT	0.532													3	53					0	0	0.004672	0	0	A	79785906	G	A	79785906	2	1	87	1	0	0	0	0	0	0	0	1	12276	1372	48	2		2	POLR3A	10	79785906	Silent	SNP	G	TCGA-DU-6399-01A-12D-1705-08	33986262	79785906	55748841	31	19481											
XPNPEP1	7511	broad.mit.edu	37	10	111647887	111647887	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr10:111647887T>C	ENST00000369680.4	-	7	691	c.443A>G	c.(442-444)gAg>gGg	p.E148G	XPNPEP1_ENST00000322238.8_Missense_Mutation_p.E191G|XPNPEP1_ENST00000430337.1_5'UTR|XPNPEP1_ENST00000369683.1_Missense_Mutation_p.E77G|XPNPEP1_ENST00000502935.1_Missense_Mutation_p.E191G	NM_020383.3	NP_065116.3	Q9NQW7	XPP1_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 1, soluble	148					bradykinin catabolic process|proteolysis		manganese ion binding|metalloaminopeptidase activity|protein homodimerization activity			endometrium(2)|kidney(9)|large_intestine(4)|lung(9)|ovary(3)|pancreas(2)|skin(1)|urinary_tract(1)	31		Breast(234;0.174)		Epithelial(162;1.64e-05)|all cancers(201;0.000564)|BRCA - Breast invasive adenocarcinoma(275;0.0721)		AACGAGGTTCTCCTTGACAGG	0.522													5	17					0	0	0.000602	0	0	C	111647887	T	C	111647887	3	2	87	1	0	0	0	0	1	0	0	0	17502	1551	54	3	1488	3	XPNPEP1	10	111647887	Missense_Mutation	SNP	T	TCGA-DU-6399-01A-12D-1705-08	31861981	111647887	23886860	32	19482											
NLRP14	338323	broad.mit.edu	37	11	7061017	7061017	+	Splice_Site	SNP	G	G	A			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr11:7061017G>A	ENST00000299481.4	+	3	707		c.e3+1			NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14						cell differentiation|multicellular organismal development|spermatogenesis		ATP binding			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		GCAGTGCTGGGTGAGTAGTTA	0.468													5	114					0	0	0.000602	0	0	A	7061017	G	A	7061017	5	1	87	1	0	0	0	0	0	0	1	0	10523	1275	44	2	368	2	NLRP14	11	7061017	Splice_Site	SNP	G	TCGA-DU-6399-01A-12D-1705-08		7061017	127945499	33	19483											
OR5L1	219437	broad.mit.edu	37	11	55579456	55579456	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr11:55579456A>G	ENST00000333973.2	+	1	603	c.514A>G	c.(514-516)Aat>Gat	p.N172D		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, member 1	172					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				CTATAGATCTAATGTGATTAA	0.458													5	219					0	0	0.001168	0	0	G	55579456	A	G	55579456	3	3	87	1	0	0	0	0	1	0	0	0	11217	362	13	3	516	3	OR5L1	11	55579456	Missense_Mutation	SNP	A	TCGA-DU-6399-01A-12D-1705-08	48518439	55579456	79427060	34	19484											
OR9G1	390174	broad.mit.edu	37	11	56468711	56468711	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr11:56468711T>G	ENST00000312153.1	+	1	848	c.848T>G	c.(847-849)aTg>aGg	p.M283R		NM_001005213.1	NP_001005213.1			olfactory receptor, family 9, subfamily G, member 1											breast(2)|kidney(1)|lung(25)|stomach(2)|upper_aerodigestive_tract(1)	31						GTATTCCCCATGTTGAATCTC	0.388													19	91					0	0	0.006122	0	0	G	56468711	T	G	56468711	3	3	87	1	0	0	0	0	1	0	0	0	11297	1464	51	4	850	4	OR9G1	11	56468711	Missense_Mutation	SNP	T	TCGA-DU-6399-01A-12D-1705-08	889255	56468711	78537805	35	19485											
OR9G4	283189	broad.mit.edu	37	11	56511045	56511045	+	Silent	SNP	C	C	G			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr11:56511045C>G	ENST00000302957.3	-	1	242	c.243G>C	c.(241-243)ctG>ctC	p.L81L		NM_001005284.1	NP_001005284.1	Q8NGQ1	OR9G4_HUMAN	olfactory receptor, family 9, subfamily G, member 4	81					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						CCAAAAAAGACAGATTGCCAA	0.428													12	76					0	0	0.001855	0	0	G	56511045	C	G	56511045	2	3	87	1	0	0	0	0	0	0	0	1	11298	465	17	5		5	OR9G4	11	56511045	Silent	SNP	C	TCGA-DU-6399-01A-12D-1705-08	42334	56511045	78495471	36	19486											
RPS6KA4	8986	broad.mit.edu	37	11	64137197	64137197	+	Silent	SNP	C	C	T			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr11:64137197C>T	ENST00000528057.1	+	14	1696	c.1608C>T	c.(1606-1608)ccC>ccT	p.P536P	RPS6KA4_ENST00000294261.4_Intron|RPS6KA4_ENST00000334205.4_Silent_p.P543P	NM_001006944.1	NP_001006945.1	O75676	KS6A4_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 4	543	Protein kinase 2.				axon guidance|histone phosphorylation|interleukin-1-mediated signaling pathway|intracellular protein kinase cascade|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|magnesium ion binding|mitogen-activated protein kinase p38 binding|ribosomal protein S6 kinase activity			breast(1)|endometrium(3)|lung(7)|ovary(1)|prostate(1)	13						ACGACACGCCCGGGGCCCCGG	0.721													3	19					0	0	0.004672	0	0	T	64137197	C	T	64137197	2	4	87	1	0	0	0	0	0	0	0	1	13705	639	23	1		1	RPS6KA4	11	64137197	Silent	SNP	C	TCGA-DU-6399-01A-12D-1705-08	7626152	64137197	70869319	37	19487											
SPCS2	9789	broad.mit.edu	37	11	74680630	74680630	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr11:74680630T>C	ENST00000263672.6	+	4	419	c.380T>C	c.(379-381)aTt>aCt	p.I127T	SPCS2_ENST00000526361.1_Intron|SPCS2_ENST00000528265.1_Intron|SPCS2_ENST00000530257.1_Intron	NM_014752.2	NP_055567.2	Q15005	SPCS2_HUMAN	signal peptidase complex subunit 2 homolog (S. cerevisiae)	127					energy reserve metabolic process|regulation of insulin secretion|signal peptide processing	integral to membrane|microsome|signal peptidase complex	peptidase activity			breast(1)	1						ATGATGGGGATTCTGACCATT	0.378													14	41					0	0	0.001855	0	0	C	74680630	T	C	74680630	3	2	87	1	0	0	0	0	1	0	0	0	15080	1493	52	3	394	3	SPCS2	11	74680630	Missense_Mutation	SNP	T	TCGA-DU-6399-01A-12D-1705-08	10543433	74680630	60325886	38	19488											
RAB38	23682	broad.mit.edu	37	11	87883114	87883114	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr11:87883114C>A	ENST00000243662.6	-	2	294	c.212G>T	c.(211-213)aGa>aTa	p.R71I		NM_022337.2	NP_071732.1	P57729	RAB38_HUMAN	RAB38, member RAS oncogene family	71					protein transport|small GTPase mediated signal transduction	melanosome|plasma membrane	GTP binding|GTPase activity			large_intestine(2)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				GTTTCCAAATCTTTCTTGACC	0.383													19	275					5.35267e-07	5.94741e-07	0.007413	1	0	A	87883114	C	A	87883114	3	1	87	1	0	0	0	0	1	0	0	0	12980	913	32	4	431	4	RAB38	11	87883114	Missense_Mutation	SNP	C	TCGA-DU-6399-01A-12D-1705-08	13202484	87883114	47123402	39	19489											
GPRC5A	9052	broad.mit.edu	37	12	13061477	13061477	+	Silent	SNP	C	C	T			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr12:13061477C>T	ENST00000014914.5	+	2	1184	c.294C>T	c.(292-294)ttC>ttT	p.F98F	GPRC5A_ENST00000542056.1_Intron	NM_003979.3	NP_003970.1	Q8NFJ5	RAI3_HUMAN	G protein-coupled receptor, family C, group 5, member A	98						cytoplasmic vesicle membrane|Golgi apparatus|integral to plasma membrane	G-protein coupled receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	18		Prostate(47;0.141)		BRCA - Breast invasive adenocarcinoma(232;0.0708)	Tretinoin(DB00755)	CCACACGCTTCTTCCTCTTTG	0.577													4	191					0	0	0.009096	0	0	T	13061477	C	T	13061477	2	4	87	1	0	0	0	0	0	0	0	1	6765	912	32	2		2	GPRC5A	12	13061477	Silent	SNP	C	TCGA-DU-6399-01A-12D-1705-08		13061477	120790418	40	19490											
ALX1	8092	broad.mit.edu	37	12	85677644	85677644	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr12:85677644C>T	ENST00000316824.3	+	2	676	c.521C>T	c.(520-522)gCc>gTc	p.A174V		NM_006982.2	NP_008913.2	Q15699	ALX1_HUMAN	ALX homeobox 1	174					brain development|cartilage condensation|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|ovary(1)	26				GBM - Glioblastoma multiforme(134;0.134)		CTCACTGAGGCCAGGGTCCAG	0.443													18	82					0	0	0.00499	0	0	T	85677644	C	T	85677644	3	4	87	1	0	0	0	0	1	0	0	0	552	739	26	2	527	2	ALX1	12	85677644	Missense_Mutation	SNP	C	TCGA-DU-6399-01A-12D-1705-08	72616167	85677644	48174251	41	19491											
POSTN	10631	broad.mit.edu	37	13	38153417	38153417	+	Silent	SNP	A	A	G			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr13:38153417A>G	ENST00000379747.4	-	13	1857	c.1740T>C	c.(1738-1740)ggT>ggC	p.G580G	POSTN_ENST00000379742.4_Silent_p.G580G|POSTN_ENST00000379743.4_Silent_p.G580G|POSTN_ENST00000541179.1_Silent_p.G580G|POSTN_ENST00000379749.4_Silent_p.G580G|POSTN_ENST00000541481.1_Silent_p.G580G	NM_006475.2	NP_006466.2	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor	580	FAS1 4.				cell adhesion|skeletal system development	proteinaceous extracellular matrix	heparin binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		TGTTAGTAACACCAGGTTCAA	0.333													11	29					0	0	0.008291	0	0	G	38153417	A	G	38153417	2	3	87	1	0	0	0	0	0	0	0	1	12307	146	6	3		3	POSTN	13	38153417	Silent	SNP	A	TCGA-DU-6399-01A-12D-1705-08		38153417	77016461	42	19492											
ESR2	2100	broad.mit.edu	37	14	64735545	64735545	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr14:64735545C>T	ENST00000557772.1	-	3	619	c.620G>A	c.(619-621)cGg>cAg	p.R207Q	ESR2_ENST00000554572.1_Missense_Mutation_p.R207Q|ESR2_ENST00000555278.1_Missense_Mutation_p.R207Q|ESR2_ENST00000353772.3_Missense_Mutation_p.R207Q|ESR2_ENST00000542956.1_Missense_Mutation_p.R207Q|ESR2_ENST00000267525.6_Missense_Mutation_p.R207Q|ESR2_ENST00000358599.5_Missense_Mutation_p.R207Q|ESR2_ENST00000553796.1_Missense_Mutation_p.R207Q|ESR2_ENST00000357782.2_Missense_Mutation_p.R207Q|ESR2_ENST00000341099.4_Missense_Mutation_p.R207Q|ESR2_ENST00000555483.1_5'UTR	NM_001214903.1	NP_001201832.1	Q92731	ESR2_HUMAN	estrogen receptor 2 (ER beta)	207					cell-cell signaling|negative regulation of cell growth|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	mitochondrion|nucleoplasm	enzyme binding|estrogen receptor activity|receptor antagonist activity|sequence-specific DNA binding transcription factor activity|steroid binding|transcription coactivator activity|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	23				all cancers(60;0.00916)|OV - Ovarian serous cystadenocarcinoma(108;0.0111)|BRCA - Breast invasive adenocarcinoma(234;0.0437)	Bicalutamide(DB01128)|Estradiol(DB00783)|Estramustine(DB01196)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Trilostane(DB01108)	GTAACACTTCCGAAGTCGGCA	0.478													12	90					0	0	0.001855	0	0	T	64735545	C	T	64735545	3	4	87	1	0	0	0	0	1	0	0	0	5285	652	23	1	1082	1	ESR2	14	64735545	Missense_Mutation	SNP	C	TCGA-DU-6399-01A-12D-1705-08		64735545	42613995	43	19493											
TC2N	123036	broad.mit.edu	37	14	92268712	92268712	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr14:92268712G>T	ENST00000435962.2	-	4	678	c.355C>A	c.(355-357)Cag>Aag	p.Q119K	TC2N_ENST00000556018.1_Missense_Mutation_p.Q119K|TC2N_ENST00000360594.5_Missense_Mutation_p.Q119K|TC2N_ENST00000340892.5_Missense_Mutation_p.Q119K	NM_001128596.1	NP_001122068	Q8N9U0	TAC2N_HUMAN	tandem C2 domains, nuclear	119						nucleus				breast(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(5)|skin(1)|upper_aerodigestive_tract(2)	18				COAD - Colon adenocarcinoma(157;0.218)		GGTCCGTGCTGGGATGAACTG	0.418													14	62					0.000151284	0.000158321	0.001855	1	0	T	92268712	G	T	92268712	3	4	87	1	0	0	0	0	1	0	0	0	15725	1357	47	5	1153	5	TC2N	14	92268712	Missense_Mutation	SNP	G	TCGA-DU-6399-01A-12D-1705-08	27533167	92268712	15080828	44	19494											
CLDN6	9074	broad.mit.edu	37	16	3065807	3065807	+	Silent	SNP	C	C	T			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr16:3065807C>T	ENST00000396925.1	-	3	644	c.216G>A	c.(214-216)gcG>gcA	p.A72A	CLDN6_ENST00000572154.1_Intron|CLDN6_ENST00000328796.4_Silent_p.A72A			P56747	CLD6_HUMAN	claudin 6	72					calcium-independent cell-cell adhesion	integral to membrane|tight junction	identical protein binding|structural molecule activity			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	10						CCTGTGGCAGCGCCAGCAGTG	0.642													22	28					0	0	0.010504	0	0	T	3065807	C	T	3065807	2	4	87	1	0	0	0	0	0	0	0	1	3512	755	27	1		1	CLDN6	16	3065807	Silent	SNP	C	TCGA-DU-6399-01A-12D-1705-08		3065807	87288946	45	19495											
UBN1	29855	broad.mit.edu	37	16	4927426	4927426	+	Silent	SNP	G	G	A			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr16:4927426G>A	ENST00000396658.4	+	16	4009	c.3306G>A	c.(3304-3306)gcG>gcA	p.A1102A	UBN1_ENST00000545171.1_Intron|UBN1_ENST00000262376.6_Silent_p.A1102A|UBN1_ENST00000590769.1_Intron	NM_016936.3	NP_058632.2	Q9NPG3	UBN1_HUMAN	ubinuclein 1	1102					chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter	PML body|tight junction	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						CCCATGCAGCGCCTCTCCCAC	0.592													10	214					0	0	0.001855	0	0	A	4927426	G	A	4927426	2	1	87	1	0	0	0	0	0	0	0	1	16953	1074	38	1		1	UBN1	16	4927426	Silent	SNP	G	TCGA-DU-6399-01A-12D-1705-08	1861619	4927426	85427327	46	19496											
GRIN2A	2903	broad.mit.edu	37	16	9928049	9928049	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr16:9928049T>A	ENST00000396573.2	-	9	1999	c.1690A>T	c.(1690-1692)Atg>Ttg	p.M564L	GRIN2A_ENST00000330684.3_Missense_Mutation_p.M564L|GRIN2A_ENST00000535259.1_Missense_Mutation_p.M407L|GRIN2A_ENST00000396575.2_Missense_Mutation_p.M564L|GRIN2A_ENST00000562109.1_Missense_Mutation_p.M564L|GRIN2A_ENST00000404927.2_Missense_Mutation_p.M564L	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	564					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	ATGAGCAGCATCACAAACATC	0.428													4	128					0	0	0.009096	0	0	A	9928049	T	A	9928049	3	1	87	1	0	0	0	0	1	0	0	0	6820	1435	50	4	2728	4	GRIN2A	16	9928049	Missense_Mutation	SNP	T	TCGA-DU-6399-01A-12D-1705-08	5000623	9928049	80426704	47	19497											
TNRC6A	27327	broad.mit.edu	37	16	24802267	24802267	+	Silent	SNP	T	T	C			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr16:24802267T>C	ENST00000395799.3	+	6	2433	c.2304T>C	c.(2302-2304)gaT>gaC	p.D768D	TNRC6A_ENST00000315183.7_Silent_p.D768D	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	768	Sufficient for interaction with EIF2C1 and EIF2C4.				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		CATGTATAGATAAGACTAGCC	0.498													10	34					0	0	0.013537	0	0	C	24802267	T	C	24802267	2	2	87	1	0	0	0	0	0	0	0	1	16400	1403	49	3		3	TNRC6A	16	24802267	Silent	SNP	T	TCGA-DU-6399-01A-12D-1705-08	14874218	24802267	65552486	48	19498											
ANKRD11	29123	broad.mit.edu	37	16	89348536	89348536	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr16:89348536C>T	ENST00000301030.4	-	9	4874	c.4414G>A	c.(4414-4416)Gag>Aag	p.E1472K	ANKRD11_ENST00000378330.2_Missense_Mutation_p.E1472K	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	1472	Lys-rich.					nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		ctctccttctcgtctctccat	0.532													10	31					0	0	0.006214	0	0	T	89348536	C	T	89348536	3	4	87	1	0	0	0	0	1	0	0	0	635	893	31	1	3597	1	ANKRD11	16	89348536	Missense_Mutation	SNP	C	TCGA-DU-6399-01A-12D-1705-08	64546269	89348536	1006217	49	19499											
TP53	7157	broad.mit.edu	37	17	7577081	7577099	+	Frame_Shift_Del	DEL	TCCTCTGTGCGCCGGTCTC	TCCTCTGTGCGCCGGTCTC	-	rs28934574	byFrequency	TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr17:7577081_7577099delTCCTCTGTGCGCCGGTCTC	ENST00000420246.2	-	8	971_989	c.839_857delGAGACCGGCGCACAGAGGA	c.(838-858)agagaccggcgcacagaggaafs	p.RDRRTEE280fs	TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Frame_Shift_Del_p.RDRRTEE280fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.RDRRTEE280fs|TP53_ENST00000269305.4_Frame_Shift_Del_p.RDRRTEE280fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.RDRRTEE280fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	280	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> G (in sporadic cancers; somatic mutation).|R -> I (in sporadic cancers; somatic mutation).|R -> K (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).|R -> T (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.R282W(401)|p.E285K(111)|p.R280T(65)|p.E286K(58)|p.R280K(49)|p.R282G(29)|p.D281E(28)|p.R283P(27)|p.R282Q(27)|p.D281N(25)|p.E285*(24)|p.E286*(22)|p.D281H(19)|p.E286G(18)|p.R283C(17)|p.R282P(17)|p.R280I(16)|p.D281Y(16)|p.E285V(15)|p.R280S(15)|p.R283H(13)|p.R282R(10)|p.D281G(10)|p.E286V(9)|p.T284P(9)|p.0?(8)|p.E285G(5)|p.E286Q(5)|p.D281V(5)|p.D281D(5)|p.E285Q(4)|p.R283R(4)|p.R283L(4)|p.R282fs*24(4)|p.R283fs*62(4)|p.E285E(3)|p.T284T(3)|p.R282L(3)|p.R282H(3)|p.R280R(3)|p.T284A(3)|p.R283G(2)|p.E285A(2)|p.D281fs*63(2)|p.E286fs*59(2)|p.D281_R282>EW(2)|p.R283fs*23(2)|p.D281A(2)|p.T284fs*21(2)|p.D281>AGPY(2)|p.R280_D281delRD(2)|p.R283fs*16(2)|p.E286fs*17(2)|p.T284fs*61(2)|p.T284fs*62(2)|p.R283fs*63(2)|p.?(2)|p.R283S(1)|p.G279fs*59(1)|p.D281_R282insXX(1)|p.G279_R280delGR(1)|p.F270_D281del12(1)|p.R283fs*56(1)|p.E286A(1)|p.R283fs*59(1)|p.C275fs*20(1)|p.E285_N288delEEEN(1)|p.R283del(1)|p.R283fs*22(1)|p.V272_K292del21(1)|p.D281R(1)|p.E285fs*60(1)|p.A276_R283delACPGRDRR(1)|p.R280fs*62(1)|p.T284_G293del10(1)|p.D281fs*24(1)|p.E285fs*13(1)|p.T284I(1)|p.L265_K305del41(1)|p.R283_T284>T(1)|p.R282fs*63(1)|p.A276fs*64(1)|p.E285_L289delEEENL(1)|p.R282_E287delRRTEEE(1)|p.S269fs*21(1)|p.C275_R283delCACPGRDRR(1)|p.T284fs*57(1)|p.D281_R282delDR(1)|p.E285fs*20(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)		GAGATTCTCTTCCTCTGTGCGCCGGTCTCTCCCAGGACA	0.553		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)			15	48	---	---	---	---						-	7577099	TCCTCTGTGCGCCGGTCTC	-	7577081	7	5	87	1	0	1	0	1	0	0	0	0	16442	1783	62	0	429	0	TP53	17	7577081	Frame_Shift_Del	DEL	TCCTCTGTGCGCCGGTCTC	TCGA-DU-6399-01A-12D-1705-08		7577081	73618129	50	19500											
TP53	7157	broad.mit.edu	37	17	7578554	7578554	+	Splice_Site	SNP	A	A	C			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr17:7578554A>C	ENST00000420246.2	-	5	508	c.376T>G	c.(376-378)Tac>Gac	p.Y126D	TP53_ENST00000269305.4_Splice_Site_p.Y126D|TP53_ENST00000413465.2_Splice_Site_p.Y126D|TP53_ENST00000455263.2_Splice_Site_p.Y126D|TP53_ENST00000359597.4_Splice_Site_p.Y126D|TP53_ENST00000445888.2_Splice_Site_p.Y126D	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	126	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Y -> C (in a familial cancer not matching 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 -> G (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|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.Y126D(9)|p.0?(8)|p.Y126N(6)|p.Y126_K132delYSPALNK(6)|p.Y126_N131delYSPALN(3)|p.Y33D(2)|p.V73fs*9(1)|p.?(1)|p.Y126fs*11(1)|p.P13fs*18(1)|p.T125_Y126insX(1)|p.Y126fs*18(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)		GCAGGGGAGTACTGTAGGAAG	0.557		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)			8	15					0	0	0.00308	0	0	C	7578554	A	C	7578554	5	2	87	1	0	0	0	0	0	0	1	0	16442	405	14	5	922	5	TP53	17	7578554	Splice_Site	SNP	A	TCGA-DU-6399-01A-12D-1705-08	1473	7578554	73616656	51	19501											
DNAH2	146754	broad.mit.edu	37	17	7662866	7662866	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr17:7662866C>T	ENST00000572933.1	+	16	4035	c.2575C>T	c.(2575-2577)Cca>Tca	p.P859S	DNAH2_ENST00000389173.2_Missense_Mutation_p.P859S			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	859	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				AAAGACCAGCCCAAACCCACT	0.502													26	35					0	0	0.005443	0	0	T	7662866	C	T	7662866	3	4	87	1	0	0	0	0	1	0	0	0	4630	623	22	2	2633	2	DNAH2	17	7662866	Missense_Mutation	SNP	C	TCGA-DU-6399-01A-12D-1705-08	84312	7662866	73532344	52	19502											
DNAH9	1770	broad.mit.edu	37	17	11827172	11827172	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr17:11827172A>G	ENST00000262442.4	+	62	11859	c.11791A>G	c.(11791-11793)Aac>Gac	p.N3931D	DNAH9_ENST00000454412.2_Missense_Mutation_p.N3931D|DNAH9_ENST00000396001.2_3'UTR|DNAH9_ENST00000608377.1_Missense_Mutation_p.N243D	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9		AAA 6 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GAACTTTCACAACGTGTCTTT	0.458													11	53					0	0	0.008291	0	0	G	11827172	A	G	11827172	3	3	87	1	0	0	0	0	1	0	0	0	4635	130	5	3	12037	3	DNAH9	17	11827172	Missense_Mutation	SNP	A	TCGA-DU-6399-01A-12D-1705-08	4164306	11827172	69368038	53	19503											
ULK2	9706	broad.mit.edu	37	17	19720091	19720091	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr17:19720091A>C	ENST00000395544.4	-	13	1566	c.1067T>G	c.(1066-1068)gTg>gGg	p.V356G	ULK2_ENST00000361658.2_Missense_Mutation_p.V356G|ULK2_ENST00000580130.1_Intron	NM_014683.3	NP_055498.3	Q8IYT8	ULK2_HUMAN	unc-51 like autophagy activating kinase 2	356					signal transduction		ATP binding|protein binding|protein serine/threonine kinase activity			large_intestine(1)|skin(4)|stomach(1)	6	all_cancers(12;4.97e-05)|all_epithelial(12;0.00362)|Breast(13;0.186)					GTTGTGTGGCACCAAAACAAA	0.398													37	44					0	0	0.00874	0	0	C	19720091	A	C	19720091	3	2	87	1	0	0	0	0	1	0	0	0	17036	159	6	5	2103	5	ULK2	17	19720091	Missense_Mutation	SNP	A	TCGA-DU-6399-01A-12D-1705-08	7892919	19720091	61475119	54	19504											
SERPINB7	8710	broad.mit.edu	37	18	61465877	61465877	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr18:61465877C>A	ENST00000398019.2	+	6	819	c.494C>A	c.(493-495)tCa>tAa	p.S165*	SERPINB7_ENST00000546027.1_Nonsense_Mutation_p.S165*|SERPINB7_ENST00000540675.1_Nonsense_Mutation_p.S148*|SERPINB7_ENST00000336429.2_Nonsense_Mutation_p.S165*	NM_003784.3	NP_003775.1	O75635	SPB7_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 7	165					regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	27		Esophageal squamous(42;0.129)				GGCATAAGCTCATCTGCTGTA	0.353													6	86					8.12818e-05	8.60631e-05	0.001984	1	0	A	61465877	C	A	61465877	4	1	87	1	0	0	0	0	0	1	0	0	14160	838	29	5	512	5	SERPINB7	18	61465877	Nonsense_Mutation	SNP	C	TCGA-DU-6399-01A-12D-1705-08		61465877	16611371	55	19505											
REEP6	92840	broad.mit.edu	37	19	1495534	1495534	+	Silent	SNP	C	C	T			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr19:1495534C>T	ENST00000233596.3	+	3	380	c.276C>T	c.(274-276)taC>taT	p.Y92Y		NM_138393.1	NP_612402.1	Q96HR9	REEP6_HUMAN	receptor accessory protein 6	92						integral to membrane				lung(1)|ovary(1)	2		Acute lymphoblastic leukemia(61;5.61e-13)|all_hematologic(61;2.65e-08)		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)		GGGTGGTGTACGCCCTGTTTG	0.622													5	68					0	0	0.001168	0	0	T	1495534	C	T	1495534	2	4	87	1	0	0	0	0	0	0	0	1	13261	547	19	1		1	REEP6	19	1495534	Silent	SNP	C	TCGA-DU-6399-01A-12D-1705-08		1495534	57633449	56	19506											
PTPRS	5802	broad.mit.edu	37	19	5218496	5218496	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr19:5218496G>A	ENST00000372412.4	-	25	4219	c.3986C>T	c.(3985-3987)gCc>gTc	p.A1329V	PTPRS_ENST00000357368.4_Missense_Mutation_p.A1328V|PTPRS_ENST00000348075.2_Missense_Mutation_p.A1306V|PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000588012.1_Missense_Mutation_p.A1306V|PTPRS_ENST00000353284.2_Missense_Mutation_p.A897V|PTPRS_ENST00000262963.6_Missense_Mutation_p.A1324V|PTPRS_ENST00000587303.1_Missense_Mutation_p.A1328V|PTPRS_ENST00000592099.1_Missense_Mutation_p.A897V			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	1328					cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)		GGCGAGGTCGGCATTGTTCAG	0.527													5	251					0	0	0.001168	0	0	A	5218496	G	A	5218496	3	1	87	1	0	0	0	0	1	0	0	0	12863	1203	42	2	1919	2	PTPRS	19	5218496	Missense_Mutation	SNP	G	TCGA-DU-6399-01A-12D-1705-08	3722962	5218496	53910487	57	19507											
C3	718	broad.mit.edu	37	19	6678249	6678249	+	Silent	SNP	G	G	T			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr19:6678249G>T	ENST00000245907.6	-	40	4856	c.4764C>A	c.(4762-4764)atC>atA	p.I1588I	C3_ENST00000599668.1_5'UTR	NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	1588	NTR.				complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		CTCTGCACTTGATGGGGCTGA	0.587													7	29					2.7689e-08	3.11501e-08	0.001984	1	0	T	6678249	G	T	6678249	2	4	87	1	0	0	0	0	0	0	0	1	2218	1280	45	5		5	C3	19	6678249	Silent	SNP	G	TCGA-DU-6399-01A-12D-1705-08	1459753	6678249	52450734	58	19508											
MUC16	94025	broad.mit.edu	37	19	9070400	9070400	+	Silent	SNP	G	G	A			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr19:9070400G>A	ENST00000397910.4	-	3	17249	c.17046C>T	c.(17044-17046)ccC>ccT	p.P5682P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5684	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.P5682P(2)|p.P1315P(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AACTCGTTACGGGCTCTGGGC	0.512													18	27					0	0	0.006122	0	0	A	9070400	G	A	9070400	2	1	87	1	0	0	0	0	0	0	0	1	10021	1103	39	1		1	MUC16	19	9070400	Silent	SNP	G	TCGA-DU-6399-01A-12D-1705-08	2392151	9070400	50058583	59	19509											
SLC17A7	57030	broad.mit.edu	37	19	49933968	49933968	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr19:49933968C>G	ENST00000221485.3	-	12	1662	c.1491G>C	c.(1489-1491)tgG>tgC	p.W497C	SLC17A7_ENST00000600601.1_Missense_Mutation_p.W430C|SLC17A7_ENST00000543531.1_Missense_Mutation_p.W485C	NM_020309.3	NP_064705.1	Q9P2U7	VGLU1_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 7	497					glutamate secretion|neurotransmitter secretion	cell junction|clathrin sculpted glutamate transport vesicle membrane|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|sodium-dependent phosphate transmembrane transporter activity|sodium:inorganic phosphate symporter activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	26		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(486;0.0245)		CAGGCTCTGCCCACGGCTGCT	0.587													4	52					0	0	0.009096	0	0	G	49933968	C	G	49933968	3	3	87	1	0	0	0	0	1	0	0	0	14477	624	22	5	195	5	SLC17A7	19	49933968	Missense_Mutation	SNP	C	TCGA-DU-6399-01A-12D-1705-08	40863568	49933968	9195015	60	19510											
TMEM150B	284417	broad.mit.edu	37	19	55828207	55828207	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr19:55828207A>G	ENST00000326652.4	-	7	634	c.452T>C	c.(451-453)aTt>aCt	p.I151T	TMEM150B_ENST00000438693.1_Missense_Mutation_p.I151T	NM_001282011.1	NP_001268940.1	A6NC51	T150B_HUMAN	transmembrane protein 150B	151						integral to membrane				endometrium(1)|large_intestine(1)|lung(1)	3						GAGGGGCCCAATCCAGGCAGC	0.627													2	2					0	0	0.004672	0	0	G	55828207	A	G	55828207	3	3	87	1	0	0	0	0	1	0	0	0	16128	101	4	3	257	3	TMEM150B	19	55828207	Missense_Mutation	SNP	A	TCGA-DU-6399-01A-12D-1705-08	5894239	55828207	3300776	61	19511											
A1BG	1	broad.mit.edu	37	19	58863737	58863737	+	Silent	SNP	A	A	G			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr19:58863737A>G	ENST00000263100.3	-	4	586	c.525T>C	c.(523-525)caT>caC	p.H175H	A1BG-AS1_ENST00000599728.1_RNA|A1BG-AS1_ENST00000593374.1_RNA|A1BG-AS1_ENST00000600686.1_RNA|A1BG-AS1_ENST00000600379.1_RNA|CTD-2619J13.8_ENST00000599109.1_RNA|A1BG-AS1_ENST00000593960.1_RNA|A1BG-AS1_ENST00000594950.1_RNA|A1BG-AS1_ENST00000595302.1_RNA	NM_130786.3	NP_570602.2	P04217	A1BG_HUMAN	alpha-1-B glycoprotein	175	Ig-like V-type 2.					extracellular region				NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|prostate(2)	15		all_cancers(17;3.04e-16)|all_epithelial(17;7.77e-12)|Lung NSC(17;3.25e-05)|Colorectal(82;5.46e-05)|all_lung(17;0.000129)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(17;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0269)		TGCCAGGCTGATGGACTGGAA	0.622													3	95					0	0	0.009096	0	0	G	58863737	A	G	58863737	2	3	87	1	0	0	0	0	0	0	0	1	1	330	12	3		3	A1BG	19	58863737	Silent	SNP	A	TCGA-DU-6399-01A-12D-1705-08	3035530	58863737	265246	62	19512											
AURKA	6790	broad.mit.edu	37	20	54956513	54956513	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr20:54956513C>A	ENST00000395909.4	-	8	1246	c.681G>T	c.(679-681)aaG>aaT	p.K227N	AURKA_ENST00000371356.2_Missense_Mutation_p.K227N|AURKA_ENST00000395914.1_Missense_Mutation_p.K227N|AURKA_ENST00000312783.6_Missense_Mutation_p.K227N|AURKA_ENST00000395907.1_Missense_Mutation_p.K227N|AURKA_ENST00000395913.3_Missense_Mutation_p.K227N|AURKA_ENST00000347343.2_Missense_Mutation_p.K227N|AURKA_ENST00000395915.3_Missense_Mutation_p.K227N|AURKA_ENST00000395911.1_Missense_Mutation_p.K227N	NM_198433.1	NP_940835.1	O14965	AURKA_HUMAN	aurora kinase A	227	Protein kinase.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|phosphatidylinositol-mediated signaling|regulation of protein stability|spindle organization	cytosol|nucleus|perinuclear region of cytoplasm|spindle microtubule|spindle pole centrosome	ATP binding|protein kinase binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(1)|large_intestine(4)|lung(9)|ovary(2)|prostate(1)|skin(2)	22			Colorectal(105;0.202)			GCTCATCAAACTTTGAAAGTT	0.373													15	81					9.16793e-09	1.04445e-08	0.00499	1	0	A	54956513	C	A	54956513	3	1	87	1	0	0	0	0	1	0	0	0	1219	564	20	4	546	4	AURKA	20	54956513	Missense_Mutation	SNP	C	TCGA-DU-6399-01A-12D-1705-08		54956513	8069007	63	19513											
TPTE	7179	broad.mit.edu	37	21	10908895	10908895	+	Splice_Site	SNP	T	T	C			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr21:10908895T>C	ENST00000298232.7	-	22	1763	c.1396A>G	c.(1396-1398)Aat>Gat	p.N466D	TPTE_ENST00000342420.5_Splice_Site_p.N446D|TPTE_ENST00000361285.4_Splice_Site_p.N484D|TPTE_ENST00000415664.2_5'UTR	NM_199259.2	NP_954868	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	484	C2 tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			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)		GTAGGAAGATTCTAAAAAGAA	0.254													3	36					0	0	0.000602	0	0	C	10908895	T	C	10908895	5	2	87	1	0	0	0	0	0	0	1	0	16491	1797	62	3	213	3	TPTE	21	10908895	Splice_Site	SNP	T	TCGA-DU-6399-01A-12D-1705-08		10908895	37221000	64	19514											
IFNAR2	3455	broad.mit.edu	37	21	34625023	34625023	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr21:34625023G>A	ENST00000433395.2	+	3	320	c.320G>A	c.(319-321)aGt>aAt	p.S107N	IFNAR2_ENST00000404220.3_Silent_p.K199K|IFNAR2_ENST00000413881.1_Silent_p.K127K|IFNAR2_ENST00000342136.4_Silent_p.K199K|IFNAR2_ENST00000382264.3_Silent_p.K199K|IFNAR2_ENST00000342101.3_Silent_p.K199K|IFNAR2_ENST00000382241.3_Silent_p.K199K																							TCATTGACAAGTTAATTCCAA	0.353													29	31					0	0	0.009535	0	0	A	34625023	G	A	34625023	3	1	87	1	0	0	0	0	1	0	0	0	7589	1020	36	2	619	2	IFNAR2	21	34625023	Missense_Mutation	SNP	G	TCGA-DU-6399-01A-12D-1705-08	23716128	34625023	13504872	65	19515											
KRTAP12-2	353323	broad.mit.edu	37	21	46086744	46086744	+	Silent	SNP	G	G	A			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr21:46086744G>A	ENST00000360770.3	-	1	100	c.60C>T	c.(58-60)tgC>tgT	p.C20C	TSPEAR_ENST00000323084.4_Intron	NM_181684.2	NP_859012.1	P59991	KR122_HUMAN	keratin associated protein 12-2	20	23 X 5 AA approximate repeats.					keratin filament				central_nervous_system(1)|endometrium(1)|lung(3)	5						AGGCTGGCTGGCAGGGGCTGG	0.667													11	11					0	0	0.001855	0	0	A	46086744	G	A	46086744	2	1	87	1	0	0	0	0	0	0	0	1	8562	1195	42	2		2	KRTAP12-2	21	46086744	Silent	SNP	G	TCGA-DU-6399-01A-12D-1705-08	11461721	46086744	2043151	66	19516											
ZNF280A	129025	broad.mit.edu	37	22	22869695	22869695	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr22:22869695G>A	ENST00000302097.3	-	2	512	c.260C>T	c.(259-261)tCg>tTg	p.S87L		NM_080740.3	NP_542778.1	P59817	Z280A_HUMAN	zinc finger protein 280A	87					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	18	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		TGCAGGCTGCGACACGTGAGC	0.468													21	90					0	0	0.00278	0	0	A	22869695	G	A	22869695	3	1	87	1	0	0	0	0	1	0	0	0	17872	1059	37	1	1372	1	ZNF280A	22	22869695	Missense_Mutation	SNP	G	TCGA-DU-6399-01A-12D-1705-08		22869695	28434871	67	19517											
DMD	1756	broad.mit.edu	37	X	32380909	32380909	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chrX:32380909C>T	ENST00000357033.4	-	37	5527	c.5321G>A	c.(5320-5322)gGa>gAa	p.G1774E	DMD_ENST00000378677.2_Missense_Mutation_p.G1770E	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	1774	Interaction with SYNM (By similarity).				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TCCTACCTTTCCAGTCTTAAT	0.483													16	26					0	0	0.004007	0	0	T	32380909	C	T	32380909	3	4	87	1	0	0	0	0	1	0	0	0	4608	855	30	2	6056	2	DMD	23	32380909	Missense_Mutation	SNP	C	TCGA-DU-6399-01A-12D-1705-08		32380909	122889651	68	19518											
ATRX	546	broad.mit.edu	37	X	76939864	76939864	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chrX:76939864delT	ENST00000373344.5	-	9	1098	c.884delA	c.(883-885)aagfs	p.K297fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.K259fs	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	297					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)	TATCTTCTTCTTATTTTGCTG	0.348			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						85	11	---	---	---	---						-	76939864	T	-	76939864	7	5	87	1	0	1	0	1	0	0	0	0	1206	1609	56	0	6702	0	ATRX	23	76939864	Frame_Shift_Del	DEL	T	TCGA-DU-6399-01A-12D-1705-08	44558955	76939864	78330696	69	19519											
MCF2	4168	broad.mit.edu	37	X	138678852	138678852	+	Silent	SNP	T	T	C			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chrX:138678852T>C	ENST00000520602.1	-	22	2598	c.2313A>G	c.(2311-2313)acA>acG	p.T771T	MCF2_ENST00000370573.4_Silent_p.T711T|MCF2_ENST00000536274.1_Silent_p.T672T|MCF2_ENST00000338585.6_Silent_p.T727T|MCF2_ENST00000370576.4_Silent_p.T711T|MCF2_ENST00000414978.1_Silent_p.T771T|MCF2_ENST00000519895.1_Silent_p.T787T|MCF2_ENST00000370578.4_Silent_p.T856T			P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence	711	PH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|membrane|membrane fraction	protein binding|Rho guanyl-nucleotide exchange factor activity			NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62	Acute lymphoblastic leukemia(192;0.000127)					CCTTCATTTTTGTAGCACCTT	0.398													30	46					0	0	0.009535	0	0	C	138678852	T	C	138678852	2	2	87	1	0	0	0	0	0	0	0	1	9428	1799	63	3		3	MCF2	23	138678852	Silent	SNP	T	TCGA-DU-6399-01A-12D-1705-08	61738988	138678852	16591708	70	19520											
LRRC8B	23507	broad.mit.edu	37	1	90048483	90048483	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chr1:90048483C>T	ENST00000330947.2	+	5	634	c.274C>T	c.(274-276)Cga>Tga	p.R92*	LRRC8B_ENST00000358200.4_Nonsense_Mutation_p.R92*|LRRC8B_ENST00000439853.1_Nonsense_Mutation_p.R92*	NM_001134476.1	NP_001127948.1	Q6P9F7	LRC8B_HUMAN	leucine rich repeat containing 8 family, member B	92						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	26		all_lung(203;0.17)		all cancers(265;0.00515)|Epithelial(280;0.0241)		GCTCCCCCTCCGAATTCAGAA	0.498													53	9					0	0	0.048971	0	0	T	90048483	C	T	90048483	4	4	88	1	0	0	0	0	0	1	0	0	9067	644	23	1	276	1	LRRC8B	1	90048483	Nonsense_Mutation	SNP	C	TCGA-DU-6400-01A-12D-1705-08		90048483	159202138	1	19521											
FCRL3	115352	broad.mit.edu	37	1	157667654	157667654	+	Silent	SNP	C	C	A			TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chr1:157667654C>A	ENST00000368184.3	-	5	645	c.354G>T	c.(352-354)ctG>ctT	p.L118L	FCRL3_ENST00000368186.5_Silent_p.L118L|FCRL3_ENST00000473231.1_5'UTR	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN	Fc receptor-like 3	118	Ig-like C2-type 2.					integral to membrane|plasma membrane	receptor activity			autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					CCTGACATCTCAGAATGACAT	0.423													3	86					6.4e-05	6.67429e-05	0.004672	1	0	A	157667654	C	A	157667654	2	1	88	1	0	0	0	0	0	0	0	1	5829	813	29	5		5	FCRL3	1	157667654	Silent	SNP	C	TCGA-DU-6400-01A-12D-1705-08	67619171	157667654	91582967	2	19522											
APOB	338	broad.mit.edu	37	2	21230714	21230714	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chr2:21230714A>T	ENST00000233242.1	-	26	9153	c.9026T>A	c.(9025-9027)cTg>cAg	p.L3009Q		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	3009					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	p.F3010fs*15(1)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TTCTCCAAACAGTGCCATGCC	0.418													12	50					0	0	0.080935	0	0	T	21230714	A	T	21230714	3	4	88	1	0	0	0	0	1	0	0	0	782	188	7	5	4681	5	APOB	2	21230714	Missense_Mutation	SNP	A	TCGA-DU-6400-01A-12D-1705-08		21230714	221968659	3	19523											
PPIG	9360	broad.mit.edu	37	2	170460747	170460747	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chr2:170460747G>A	ENST00000260970.3	+	4	332	c.112G>A	c.(112-114)Gag>Aag	p.E38K	PPIG_ENST00000448752.2_Missense_Mutation_p.E38K|PPIG_ENST00000462903.1_Missense_Mutation_p.E38K|PPIG_ENST00000409714.3_Missense_Mutation_p.E38K	NM_004792.2	NP_004783.2	Q13427	PPIG_HUMAN	peptidylprolyl isomerase G (cyclophilin G)	38	PPIase cyclophilin-type.				protein folding|RNA splicing	nuclear matrix|nuclear speck	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(17)|ovary(2)|stomach(1)|urinary_tract(1)	43					L-Proline(DB00172)	CAAAACATGCGAGAACTTTCG	0.343													28	94					0	0	0.050027	0	0	A	170460747	G	A	170460747	3	1	88	1	0	0	0	0	1	0	0	0	12373	1059	37	1	118	1	PPIG	2	170460747	Missense_Mutation	SNP	G	TCGA-DU-6400-01A-12D-1705-08	149230033	170460747	72738626	4	19524											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								29	44					0	0	0.059317	0	0	T	209113112	C	T	209113112	3	4	88	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-DU-6400-01A-12D-1705-08	38652365	209113112	34086261	5	19525											
SLC11A1	6556	broad.mit.edu	37	2	219258872	219258872	+	Silent	SNP	G	G	A			TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chr2:219258872G>A	ENST00000233202.6	+	13	1684	c.1344G>A	c.(1342-1344)acG>acA	p.T448T	SLC11A1_ENST00000539932.1_Silent_p.T330T	NM_000578.3	NP_000569.3	P49279	NRAM1_HUMAN	solute carrier family 11 (proton-coupled divalent metal ion transporter), member 1	448					activation of protein kinase activity|antigen processing and presentation of peptide antigen|cadmium ion transmembrane transport|cellular cadmium ion homeostasis|cellular iron ion homeostasis|defense response to Gram-negative bacterium|defense response to protozoan|divalent metal ion export|inflammatory response|interleukin-2 production|interleukin-3 production|iron ion transport|L-arginine import|macrophage activation|MHC class II biosynthetic process|mRNA stabilization|multicellular organismal iron ion homeostasis|negative regulation of cytokine production|nitrite transport|phagocytosis|positive regulation of dendritic cell antigen processing and presentation|positive regulation of interferon-gamma production|positive regulation of phagocytosis|positive regulation of T-helper 1 type immune response|positive regulation of transcription from RNA polymerase II promoter|respiratory burst|response to interferon-gamma|response to lipopolysaccharide|T cell cytokine production|T cell proliferation involved in immune response|vacuolar acidification|wound healing	integral to plasma membrane|late endosome membrane|lysosome|phagocytic vesicle membrane|tertiary granule membrane	manganese ion transmembrane transporter activity|metal ion:hydrogen antiporter activity|protein homodimerization activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	19		Renal(207;0.0474)		Epithelial(149;1.16e-06)|all cancers(144;0.000195)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCATCCTCACGTTCACCAGCA	0.582													8	45					0	0	0.069234	0	0	A	219258872	G	A	219258872	2	1	88	1	0	0	0	0	0	0	0	1	14435	1132	40	1		1	SLC11A1	2	219258872	Silent	SNP	G	TCGA-DU-6400-01A-12D-1705-08	10145760	219258872	23940501	6	19526											
ULK4	54986	broad.mit.edu	37	3	41953050	41953050	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chr3:41953050C>T	ENST00000301831.4	-	10	1460	c.998G>A	c.(997-999)gGt>gAt	p.G333D	ULK4_ENST00000420927.1_Missense_Mutation_p.G333D	NM_017886.2	NP_060356.2	Q96C45	ULK4_HUMAN	unc-51 like kinase 4	333							ATP binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1)	22				KIRC - Kidney renal clear cell carcinoma(284;0.214)		GAAAGAGTGACCTAGTGGTTG	0.408													10	100					0	0	0.069234	0	0	T	41953050	C	T	41953050	3	4	88	1	0	0	0	0	1	0	0	0	17038	507	18	2	2941	2	ULK4	3	41953050	Missense_Mutation	SNP	C	TCGA-DU-6400-01A-12D-1705-08		41953050	156069380	7	19527											
CCDC13	152206	broad.mit.edu	37	3	42754752	42754752	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chr3:42754752C>T	ENST00000310232.6	-	14	1858	c.1775G>A	c.(1774-1776)cGa>cAa	p.R592Q		NM_144719.3	NP_653320.3	Q8IYE1	CCD13_HUMAN	coiled-coil domain containing 13	592										endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	25						GGTGCGGTGTCGCTCCTCCTG	0.602													23	97					0	0	0.030593	0	0	T	42754752	C	T	42754752	3	4	88	1	0	0	0	0	1	0	0	0	2783	884	31	1	384	1	CCDC13	3	42754752	Missense_Mutation	SNP	C	TCGA-DU-6400-01A-12D-1705-08	801702	42754752	155267678	8	19528											
CBLB	868	broad.mit.edu	37	3	105495351	105495351	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chr3:105495351T>A	ENST00000264122.4	-	4	776	c.455A>T	c.(454-456)cAc>cTc	p.H152L	CBLB_ENST00000545639.1_Intron|CBLB_ENST00000405772.1_Missense_Mutation_p.H152L|CBLB_ENST00000403724.1_Missense_Mutation_p.H152L|CBLB_ENST00000394027.3_Missense_Mutation_p.H174L	NM_170662.3	NP_733762.2	Q13191	CBLB_HUMAN	Cbl proto-oncogene B, E3 ubiquitin protein ligase	152	4H.|Cbl-PTB.				cell surface receptor linked signaling pathway|NLS-bearing substrate import into nucleus	cytoplasm|nucleus	calcium ion binding|ligase activity|signal transducer activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2)	49						TGCCAGCATGTGACTGAAGAT	0.378			Mis S		AML								15	95					0	0	0.028581	0	0	A	105495351	T	A	105495351	3	1	88	1	0	0	0	0	1	0	0	0	2719	1696	59	5	2557	5	CBLB	3	105495351	Missense_Mutation	SNP	T	TCGA-DU-6400-01A-12D-1705-08	62740599	105495351	92527079	9	19529											
NMD3	51068	broad.mit.edu	37	3	160952983	160952983	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chr3:160952983G>A	ENST00000460469.1	+	6	1015	c.560G>A	c.(559-561)cGt>cAt	p.R187H	NMD3_ENST00000351193.2_Missense_Mutation_p.R187H|NMD3_ENST00000478160.1_3'UTR|NMD3_ENST00000472947.1_Missense_Mutation_p.R187H			Q96D46	NMD3_HUMAN	NMD3 ribosome export adaptor	187					protein transport	cytoplasm|nucleolus|nucleoplasm				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(10)|ovary(1)|skin(1)|urinary_tract(2)	25			Lung(72;0.00111)|LUSC - Lung squamous cell carcinoma(72;0.00156)			AATACACTTCGTATCAAAGAG	0.249													26	29					0	0	0.108266	0	0	A	160952983	G	A	160952983	3	1	88	1	0	0	0	0	1	0	0	0	10535	1145	40	1	582	1	NMD3	3	160952983	Missense_Mutation	SNP	G	TCGA-DU-6400-01A-12D-1705-08	55457632	160952983	37069447	10	19530											
TTC14	151613	broad.mit.edu	37	3	180327531	180327531	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chr3:180327531A>G	ENST00000296015.4	+	12	1646	c.1514A>G	c.(1513-1515)cAt>cGt	p.H505R	TTC14_ENST00000382584.4_Missense_Mutation_p.H505R|TTC14_ENST00000412756.2_3'UTR|TTC14_ENST00000465625.1_3'UTR	NM_133462.3	NP_597719.1	Q96N46	TTC14_HUMAN	tetratricopeptide repeat domain 14	505	Ser-rich.						RNA binding			endometrium(3)|kidney(5)|large_intestine(9)|lung(24)|ovary(2)|pancreas(1)|skin(1)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			CATAAGAAACATAAGAGGAAC	0.413													17	54					0	0	0.0333	0	0	G	180327531	A	G	180327531	3	3	88	1	0	0	0	0	1	0	0	0	16743	217	8	3	1590	3	TTC14	3	180327531	Missense_Mutation	SNP	A	TCGA-DU-6400-01A-12D-1705-08	19374548	180327531	17694899	11	19531											
DSPP	1834	broad.mit.edu	37	4	88534157	88534157	+	Silent	SNP	T	T	C			TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chr4:88534157T>C	ENST00000399271.1	+	4	939	c.819T>C	c.(817-819)agT>agC	p.S273S	DSPP_ENST00000282478.7_Silent_p.S273S|RP11-742B18.1_ENST00000506480.1_RNA	NM_014208.3	NP_055023.2	Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	273					biomineral tissue development|ossification|skeletal system development	proteinaceous extracellular matrix	calcium ion binding|collagen binding|extracellular matrix structural constituent			breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		GAAAAGACAGTAGTAATAACA	0.438													22	24					0	0	0.055883	0	0	C	88534157	T	C	88534157	2	2	88	1	0	0	0	0	0	0	0	1	4808	1635	57	3		3	DSPP	4	88534157	Silent	SNP	T	TCGA-DU-6400-01A-12D-1705-08		88534157	102620119	12	19532											
PLEKHG4B	153478	broad.mit.edu	37	5	169649	169649	+	Missense_Mutation	SNP	G	G	A	rs139086978		TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chr5:169649G>A	ENST00000283426.6	+	12	2653	c.2603G>A	c.(2602-2604)cGg>cAg	p.R868Q		NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4B	868	DH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	p.R868Q(1)|p.R59Q(1)		endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		CACTTCCTCCGGGAGCTGGAG	0.622													30	50					0	0	0.041601	0	0	A	169649	G	A	169649	3	1	88	1	0	0	0	0	1	0	0	0	12120	1116	39	1	2649	1	PLEKHG4B	5	169649	Missense_Mutation	SNP	G	TCGA-DU-6400-01A-12D-1705-08		169649	180745611	13	19533											
SLC6A3	6531	broad.mit.edu	37	5	1409936	1409936	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chr5:1409936C>T	ENST00000270349.9	-	10	1425	c.1298G>A	c.(1297-1299)gGg>gAg	p.G433E	SLC6A3_ENST00000453492.2_Missense_Mutation_p.G433E	NM_001044.4	NP_001035.1	Q01959	SC6A3_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 3	433					cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body				breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)	ATCGATGAGCCCGGTGATCAC	0.612													18	37					0	0	0.0333	0	0	T	1409936	C	T	1409936	3	4	88	1	0	0	0	0	1	0	0	0	14740	623	22	2	588	2	SLC6A3	5	1409936	Missense_Mutation	SNP	C	TCGA-DU-6400-01A-12D-1705-08	1240287	1409936	179505324	14	19534											
N4BP3	23138	broad.mit.edu	37	5	177547253	177547253	+	Silent	SNP	G	G	A			TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chr5:177547253G>A	ENST00000274605.5	+	3	764	c.405G>A	c.(403-405)gcG>gcA	p.A135A		NM_015111.1	NP_055926.1	O15049	N4BP3_HUMAN	NEDD4 binding protein 3	135						cytoplasmic vesicle membrane				breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	9	all_cancers(89;0.00294)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AAAGTCTGGCGTCCCACAAAG	0.682													23	24					0	0	0.076483	0	0	A	177547253	G	A	177547253	2	1	88	1	0	0	0	0	0	0	0	1	10161	1132	40	1		1	N4BP3	5	177547253	Silent	SNP	G	TCGA-DU-6400-01A-12D-1705-08	176137317	177547253	3368007	15	19535											
GPR116	221395	broad.mit.edu	37	6	46830657	46830657	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chr6:46830657C>T	ENST00000283296.7	-	15	2455	c.2167G>A	c.(2167-2169)Gcc>Acc	p.A723T	GPR116_ENST00000456426.2_Missense_Mutation_p.A581T|GPR116_ENST00000545669.1_Missense_Mutation_p.A152T|GPR116_ENST00000362015.4_Missense_Mutation_p.A723T|GPR116_ENST00000265417.7_Missense_Mutation_p.A723T	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	723					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			TTTATTGGGGCAGAGATGCAG	0.512													43	132					0	0	0.11126	0	0	T	46830657	C	T	46830657	3	4	88	1	0	0	0	0	1	0	0	0	6673	710	25	2	1901	2	GPR116	6	46830657	Missense_Mutation	SNP	C	TCGA-DU-6400-01A-12D-1705-08		46830657	124284410	16	19536											
ZNF292	23036	broad.mit.edu	37	6	87967233	87967233	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chr6:87967233delC	ENST00000369577.3	+	8	3929	c.3886delC	c.(3886-3888)catfs	p.H1296fs	ZNF292_ENST00000339907.4_Frame_Shift_Del_p.H1291fs	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	1296					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		TAATACAAATCATTATTCCTC	0.378													8	11	---	---	---	---						-	87967233	C	-	87967233	7	5	88	1	0	1	0	1	0	0	0	0	17883	826	29	0	3916	0	ZNF292	6	87967233	Frame_Shift_Del	DEL	C	TCGA-DU-6400-01A-12D-1705-08	41136576	87967233	83147834	17	19537											
PGAM2	5224	broad.mit.edu	37	7	44102503	44102503	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chr7:44102503G>C	ENST00000297283.3	-	3	679	c.622C>G	c.(622-624)Ctg>Gtg	p.L208V		NM_000290.3	NP_000281.2	P15259	PGAM2_HUMAN	phosphoglycerate mutase 2 (muscle)	208					gluconeogenesis|glycolysis|striated muscle contraction	cytosol	2,3-bisphospho-D-glycerate 2-phosphohydrolase activity|bisphosphoglycerate mutase activity			large_intestine(2)|lung(4)|ovary(1)|stomach(1)	8						GGCAGGTTCAGCTCCATGATC	0.557													8	44					0	0	0.047766	0	0	C	44102503	G	C	44102503	3	2	88	1	0	0	0	0	1	0	0	0	11822	962	34	4	143	4	PGAM2	7	44102503	Missense_Mutation	SNP	G	TCGA-DU-6400-01A-12D-1705-08		44102503	115036160	18	19538											
LMOD2	442721	broad.mit.edu	37	7	123302491	123302491	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chr7:123302491G>A	ENST00000458573.2	+	2	1008	c.851G>A	c.(850-852)gGg>gAg	p.G284E	LMOD2_ENST00000456238.2_Intron	NM_207163.1	NP_997046.1	Q6P5Q4	LMOD2_HUMAN	leiomodin 2 (cardiac)	284						cytoskeleton	actin binding|tropomyosin binding										ACGGGAAAGGGGATCCTGGCC	0.542													7	90					0	0	0.038147	0	0	A	123302491	G	A	123302491	3	1	88	1	0	0	0	0	1	0	0	0	8898	1232	43	2	857	2	LMOD2	7	123302491	Missense_Mutation	SNP	G	TCGA-DU-6400-01A-12D-1705-08	79199988	123302491	35836172	19	19539											
GALNTL5	168391	broad.mit.edu	37	7	151711757	151711757	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chr7:151711757T>A	ENST00000392800.2	+	8	1309	c.1055T>A	c.(1054-1056)aTa>aAa	p.I352K	GALNTL5_ENST00000431418.2_Missense_Mutation_p.I352K	NM_145292.3	NP_660335.2	Q7Z4T8	GLTL5_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 5	352	Catalytic subdomain B.					Golgi membrane|integral to membrane	transferase activity, transferring glycosyl groups			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(11)|ovary(2)|prostate(2)|skin(3)	32	all_neural(206;0.187)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00427)	UCEC - Uterine corpus endometrioid carcinoma (81;0.18)|BRCA - Breast invasive adenocarcinoma(188;0.166)		CAACTCTTTATAATCCCCTGC	0.393													44	64					0	0	0.048971	0	0	A	151711757	T	A	151711757	3	1	88	1	0	0	0	0	1	0	0	0	6264	1406	49	4	1081	4	GALNTL5	7	151711757	Missense_Mutation	SNP	T	TCGA-DU-6400-01A-12D-1705-08	28409266	151711757	7426906	20	19540											
TACC1	6867	broad.mit.edu	37	8	38681524	38681524	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chr8:38681524A>G	ENST00000379931.3	+	4	1787	c.1408A>G	c.(1408-1410)Aaa>Gaa	p.K470E	TACC1_ENST00000520611.1_Intron|TACC1_ENST00000317827.4_Intron|TACC1_ENST00000522752.1_Intron|TACC1_ENST00000520615.1_Intron|TACC1_ENST00000520973.1_Intron|TACC1_ENST00000443286.2_Intron|TACC1_ENST00000348567.4_Intron|TACC1_ENST00000518415.1_Intron|TACC1_ENST00000276520.8_Intron|TACC1_ENST00000520340.1_Intron|TACC1_ENST00000330691.6_Missense_Mutation_p.K32E|TACC1_ENST00000519416.1_Intron			O75410	TACC1_HUMAN	transforming, acidic coiled-coil containing protein 1	464	SPAZ 2.				cell cycle|cell division	intermediate filament cytoskeleton|microtubule organizing center|nucleus	protein binding			breast(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(3)	17		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.065)	LUSC - Lung squamous cell carcinoma(45;1.7e-09)|COAD - Colon adenocarcinoma(9;0.235)			TGAACAAGTGAAATTTCTCTG	0.433													37	79					0	0	0.086207	0	0	G	38681524	A	G	38681524	3	3	88	1	0	0	0	0	1	0	0	0	15558	261	9	3		3	TACC1	8	38681524	Missense_Mutation	SNP	A	TCGA-DU-6400-01A-12D-1705-08		38681524	107682498	21	19541											
KIFC2	90990	broad.mit.edu	37	8	145694030	145694030	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chr8:145694030G>A	ENST00000301332.2	+	9	1377	c.1000G>A	c.(1000-1002)Gca>Aca	p.A334T	KIFC2_ENST00000301331.5_Missense_Mutation_p.A82T	NM_145754.2	NP_665697.1	Q96AC6	KIFC2_HUMAN	kinesin family member C2	334					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(7)|ovary(3)|prostate(3)|skin(2)|urinary_tract(1)	19	all_cancers(97;4.61e-11)|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;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)			TGGGCAGCTGGCAGGTAAGGG	0.652													9	29					0	0	0.047766	0	0	A	145694030	G	A	145694030	3	1	88	1	0	0	0	0	1	0	0	0	8355	1203	42	2	1034	2	KIFC2	8	145694030	Missense_Mutation	SNP	G	TCGA-DU-6400-01A-12D-1705-08	107012506	145694030	669992	22	19542											
DENND1A	57706	broad.mit.edu	37	9	126319963	126319963	+	Silent	SNP	C	C	T			TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chr9:126319963C>T	ENST00000373624.2	-	13	1080	c.879G>A	c.(877-879)ctG>ctA	p.L293L	DENND1A_ENST00000473039.1_5'UTR|DENND1A_ENST00000373618.1_Silent_p.L261L|DENND1A_ENST00000394219.3_Silent_p.L261L|DENND1A_ENST00000394215.2_Silent_p.L263L|DENND1A_ENST00000373620.3_Silent_p.L293L|DENND1A_ENST00000542603.1_Intron	NM_020946.1	NP_065997.1	Q8TEH3	DEN1A_HUMAN	DENN/MADD domain containing 1A	293						cell junction|clathrin coated vesicle membrane|presynaptic membrane	guanyl-nucleotide exchange factor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|liver(2)|lung(18)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						GCCTGTTCTTCAGGGAAGAGA	0.537													5	25					0	0	0.014758	0	0	T	126319963	C	T	126319963	2	4	88	1	0	0	0	0	0	0	0	1	4454	813	29	2		2	DENND1A	9	126319963	Silent	SNP	C	TCGA-DU-6400-01A-12D-1705-08		126319963	14893468	23	19543											
NOTCH1	4851	broad.mit.edu	37	9	139399401	139399401	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chr9:139399401G>T	ENST00000277541.6	-	26	4817	c.4742C>A	c.(4741-4743)cCg>cAg	p.P1581Q		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1581					aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CTGCTCCGGCGGCATCAGCAC	0.682			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			2	3					0.0016	0.00162222	0.004672	1	0	T	139399401	G	T	139399401	3	4	88	1	0	0	0	0	1	0	0	0	10594	1116	39	5	2961	5	NOTCH1	9	139399401	Missense_Mutation	SNP	G	TCGA-DU-6400-01A-12D-1705-08	13079438	139399401	1814030	24	19544											
NOTCH1	4851	broad.mit.edu	37	9	139412252	139412252	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chr9:139412252C>T	ENST00000277541.6	-	8	1468	c.1393G>A	c.(1393-1395)Gcc>Acc	p.A465T		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	465	EGF-like 12; calcium-binding (Potential).				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		AGGCAGGTGGCGTCGTTCTGG	0.672			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			6	51					0	0	0.021553	0	0	T	139412252	C	T	139412252	3	4	88	1	0	0	0	0	1	0	0	0	10594	768	27	1	6382	1	NOTCH1	9	139412252	Missense_Mutation	SNP	C	TCGA-DU-6400-01A-12D-1705-08	12851	139412252	1801179	25	19545											
KIAA1217	56243	broad.mit.edu	37	10	24669943	24669943	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chr10:24669943G>A	ENST00000376454.3	+	3	530	c.500G>A	c.(499-501)cGt>cAt	p.R167H	KIAA1217_ENST00000458595.1_Missense_Mutation_p.R167H|KIAA1217_ENST00000376452.3_Missense_Mutation_p.R167H|KIAA1217_ENST00000376462.1_Missense_Mutation_p.R87H|KIAA1217_ENST00000430453.2_Missense_Mutation_p.R88H	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217	167					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						AGCCGGACTCGTGCGAGCCTT	0.532													10	31					0	0	0.058154	0	0	A	24669943	G	A	24669943	3	1	88	1	0	0	0	0	1	0	0	0	8258	1145	40	1	510	1	KIAA1217	10	24669943	Missense_Mutation	SNP	G	TCGA-DU-6400-01A-12D-1705-08		24669943	110864804	26	19546											
SVIL	6840	broad.mit.edu	37	10	29820187	29820187	+	Silent	SNP	G	G	A			TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chr10:29820187G>A	ENST00000375398.2	-	12	2489	c.2040C>T	c.(2038-2040)gtC>gtT	p.V680V	SVIL_ENST00000375400.3_Silent_p.V286V|SVIL_ENST00000355867.4_Silent_p.V680V			O95425	SVIL_HUMAN	supervillin	680					cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				ACTTGCCATCGACAGTTGGCG	0.358													12	37					0	0	0.105934	0	0	A	29820187	G	A	29820187	2	1	88	1	0	0	0	0	0	0	0	1	15477	1045	37	1		1	SVIL	10	29820187	Silent	SNP	G	TCGA-DU-6400-01A-12D-1705-08	5150244	29820187	105714560	27	19547											
C10orf91	170393	broad.mit.edu	37	10	134259250	134259250	+	Missense_Mutation	SNP	C	C	T	rs112176383		TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chr10:134259250C>T	ENST00000392630.3	+	2	141	c.80C>T	c.(79-81)aCg>aTg	p.T27M	C10orf91_ENST00000490765.1_3'UTR|C10orf91_ENST00000321248.2_Missense_Mutation_p.T27M	NM_173541.2	NP_775812.1	Q5T1B1	CJ091_HUMAN	chromosome 10 open reading frame 91	27										endometrium(1)|kidney(1)|lung(1)|ovary(2)	5		all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224)		OV - Ovarian serous cystadenocarcinoma(35;6.95e-05)|Epithelial(32;0.000142)|all cancers(32;0.000162)		GCTTGCTGGACGCATGACCAG	0.607													40	57					0	0	0.045515	0	0	T	134259250	C	T	134259250	3	4	88	1	0	0	0	0	1	0	0	0	1628	536	19	1	86	1	C10orf91	10	134259250	Missense_Mutation	SNP	C	TCGA-DU-6400-01A-12D-1705-08	104439063	134259250	1275497	28	19548											
ALDH3B2	222	broad.mit.edu	37	11	67433865	67433865	+	Silent	SNP	G	G	A			TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chr11:67433865G>A	ENST00000349015.3	-	5	597	c.159C>T	c.(157-159)tgC>tgT	p.C53C	ALDH3B2_ENST00000530069.1_Silent_p.C53C	NM_000695.3	NP_000686	P48448	AL3B2_HUMAN	aldehyde dehydrogenase 3 family, member B2	53					alcohol metabolic process|cellular aldehyde metabolic process|lipid metabolic process		3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1)	18					NADH(DB00157)	TCAGCACCACGCAACTCCCTG	0.672													3	8					0	0	0.004672	0	0	A	67433865	G	A	67433865	2	1	88	1	0	0	0	0	0	0	0	1	497	1079	38	1		1	ALDH3B2	11	67433865	Silent	SNP	G	TCGA-DU-6400-01A-12D-1705-08		67433865	67572651	29	19549											
ZW10	9183	broad.mit.edu	37	11	113639586	113639586	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chr11:113639586A>G	ENST00000200135.3	-	2	353	c.209T>C	c.(208-210)aTt>aCt	p.I70T		NM_004724.3	NP_004715.1	O43264	ZW10_HUMAN	zw10 kinetochore protein	70	Interaction with RINT1.|Interaction with ZWINT.				cell division|ER to Golgi vesicle-mediated transport|establishment of mitotic spindle orientation|meiosis|mitotic cell cycle checkpoint|mitotic metaphase plate congression|mitotic prometaphase|protein complex assembly|protein localization to kinetochore|protein transport|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|endoplasmic reticulum membrane|kinetochore microtubule|nucleus|spindle pole	centromeric DNA binding|protein binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	18		all_cancers(61;3.84e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000237)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.94e-06)|Epithelial(105;0.000103)|all cancers(92;0.000786)		CAGCAGGTCAATGTCTTCAGA	0.463													21	90					0	0	0.055883	0	0	G	113639586	A	G	113639586	3	3	88	1	0	0	0	0	1	0	0	0	18287	101	4	3	2190	3	ZW10	11	113639586	Missense_Mutation	SNP	A	TCGA-DU-6400-01A-12D-1705-08	46205721	113639586	21366930	30	19550											
DPY19L2	283417	broad.mit.edu	37	12	64020270	64020270	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chr12:64020270G>C	ENST00000324472.4	-	7	1023	c.840C>G	c.(838-840)tgC>tgG	p.C280W	RP11-415I12.3_ENST00000509615.2_RNA	NM_173812.4	NP_776173.3	Q6NUT2	D19L2_HUMAN	dpy-19-like 2 (C. elegans)	280					multicellular organismal development|spermatid development	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45			GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)		TGAAAAAGAAGCACAGTACTG	0.313													10	17					0	0	0.058154	0	0	C	64020270	G	C	64020270	3	2	88	1	0	0	0	0	1	0	0	0	4767	963	34	4	1500	4	DPY19L2	12	64020270	Missense_Mutation	SNP	G	TCGA-DU-6400-01A-12D-1705-08		64020270	69831625	31	19551											
DNAH10	196385	broad.mit.edu	37	12	124408866	124408866	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chr12:124408866G>A	ENST00000409039.3	+	66	11324	c.11299G>A	c.(11299-11301)Gct>Act	p.A3767T	CCDC92_ENST00000544798.1_Intron	NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	3767					microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		AAAGCCCTGCGCTTGGTTGTC	0.403													14	21					0	0	0.024245	0	0	A	124408866	G	A	124408866	3	1	88	1	0	0	0	0	1	0	0	0	4626	1087	38	1	11561	1	DNAH10	12	124408866	Missense_Mutation	SNP	G	TCGA-DU-6400-01A-12D-1705-08	60388596	124408866	9443029	32	19552											
EDDM3B	64184	broad.mit.edu	37	14	21238446	21238446	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chr14:21238446G>C	ENST00000326783.3	+	2	235	c.137G>C	c.(136-138)aGa>aCa	p.R46T		NM_022360.4	NP_071755.1	P56851	EP3B_HUMAN	epididymal protein 3B	46					spermatid development	extracellular region		p.R46I(1)		central_nervous_system(1)|kidney(1)|lung(3)|ovary(1)|skin(1)	7						CGAGAATTCAGAGAGTACAAA	0.393													24	82					0	0	0.083992	0	0	C	21238446	G	C	21238446	3	2	88	1	0	0	0	0	1	0	0	0	4936	942	33	4	139	4	EDDM3B	14	21238446	Missense_Mutation	SNP	G	TCGA-DU-6400-01A-12D-1705-08		21238446	86111094	33	19553											
TTC8	123016	broad.mit.edu	37	14	89338726	89338726	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chr14:89338726A>G	ENST00000338104.6	+	13	1377	c.1325A>G	c.(1324-1326)aAc>aGc	p.N442S	TTC8_ENST00000358622.5_Missense_Mutation_p.N228S|TTC8_ENST00000346301.4_Missense_Mutation_p.N386S|TTC8_ENST00000536576.1_Missense_Mutation_p.N187S|TTC8_ENST00000380656.2_Missense_Mutation_p.N426S|TTC8_ENST00000354441.6_Missense_Mutation_p.N161S|TTC8_ENST00000345383.5_Missense_Mutation_p.N416S			Q8TAM2	TTC8_HUMAN	tetratricopeptide repeat domain 8	452					cilium assembly|establishment of anatomical structure orientation|sensory processing	BBSome|centrosome|cilium membrane|microtubule basal body	protein binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						GCTCTGGTCAACAACAACAAC	0.537													3	89					0	0	0.004672	0	0	G	89338726	A	G	89338726	3	3	88	1	0	0	0	0	1	0	0	0	16776	43	2	3	1327	3	TTC8	14	89338726	Missense_Mutation	SNP	A	TCGA-DU-6400-01A-12D-1705-08	68100280	89338726	18010814	34	19554											
E4F1	1877	broad.mit.edu	37	16	2279638	2279638	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chr16:2279638C>T	ENST00000301727.4	+	3	425	c.377C>T	c.(376-378)tCt>tTt	p.S126F	E4F1_ENST00000564139.1_Missense_Mutation_p.S126F|E4F1_ENST00000565090.1_Missense_Mutation_p.S126F	NM_004424.3	NP_004415.2	Q66K89	E4F1_HUMAN	E4F transcription factor 1	126					cell division|cell proliferation|interspecies interaction between organisms|mitosis|regulation of growth	cytoplasm|nucleoplasm	DNA binding|ligase activity|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			ovary(1)	1						GAGGCGGCCTCTCTGGCAGCA	0.617													40	97					0	0	0.080422	0	0	T	2279638	C	T	2279638	3	4	88	1	0	0	0	0	1	0	0	0	4900	913	32	2	387	2	E4F1	16	2279638	Missense_Mutation	SNP	C	TCGA-DU-6400-01A-12D-1705-08		2279638	88075115	35	19555											
CCDC113	29070	broad.mit.edu	37	16	58292428	58292428	+	Splice_Site	SNP	G	G	A			TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chr16:58292428G>A	ENST00000219299.4	+	4	625		c.e4+1		CCDC113_ENST00000443128.2_Splice_Site	NM_014157.3	NP_054876.2	Q9H0I3	CC113_HUMAN	coiled-coil domain containing 113							protein complex				large_intestine(4)|lung(6)|ovary(1)|urinary_tract(1)	12						CCGCCGGAGGGTAAGTTGGCA	0.418													17	24					0	0	0.028581	0	0	A	58292428	G	A	58292428	5	1	88	1	0	0	0	0	0	0	1	0	2768	1275	44	2	561	2	CCDC113	16	58292428	Splice_Site	SNP	G	TCGA-DU-6400-01A-12D-1705-08	56012790	58292428	32062325	36	19556											
SF3B3	23450	broad.mit.edu	37	16	70601345	70601345	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chr16:70601345C>T	ENST00000302516.5	+	21	3069	c.2858C>T	c.(2857-2859)gCc>gTc	p.A953V		NM_012426.4	NP_036558.3	Q15393	SF3B3_HUMAN	splicing factor 3b, subunit 3, 130kDa	953					protein complex assembly	catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex	nucleic acid binding|protein binding	p.A953V(1)		breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53		Ovarian(137;0.0694)				GCTGCTATTGCCCCATTCCAG	0.493													3	80					0	0	0.004672	0	0	T	70601345	C	T	70601345	3	4	88	1	0	0	0	0	1	0	0	0	14206	739	26	2	2936	2	SF3B3	16	70601345	Missense_Mutation	SNP	C	TCGA-DU-6400-01A-12D-1705-08	12308917	70601345	19753408	37	19557											
MYH1	4619	broad.mit.edu	37	17	10404045	10404045	+	Missense_Mutation	SNP	C	C	T	rs142605633		TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chr17:10404045C>T	ENST00000226207.5	-	28	3857	c.3763G>A	c.(3763-3765)Gct>Act	p.A1255T	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1255						muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	p.A1255T(1)		NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						TCTTCTAGAGCGCGGCACATC	0.453													16	57					0	0	0.028581	0	0	T	10404045	C	T	10404045	3	4	88	1	0	0	0	0	1	0	0	0	10077	768	27	1	2108	1	MYH1	17	10404045	Missense_Mutation	SNP	C	TCGA-DU-6400-01A-12D-1705-08		10404045	70791165	38	19558											
DLX4	1748	broad.mit.edu	37	17	48051291	48051291	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chr17:48051291C>T	ENST00000240306.3	+	3	1002	c.707C>T	c.(706-708)tCg>tTg	p.S236L	DLX4_ENST00000411890.2_Missense_Mutation_p.S164L	NM_138281.2	NP_612138.1	Q92988	DLX4_HUMAN	distal-less homeobox 4	236					multicellular organismal development	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.S236L(1)		central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(3)	10						GTCCTGGCTTCGCCTCAGATG	0.617													20	22					0	0	0.055883	0	0	T	48051291	C	T	48051291	3	4	88	1	0	0	0	0	1	0	0	0	4601	893	31	1	784	1	DLX4	17	48051291	Missense_Mutation	SNP	C	TCGA-DU-6400-01A-12D-1705-08	37647246	48051291	33143919	39	19559											
ABCA6	23460	broad.mit.edu	37	17	67080415	67080415	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chr17:67080415G>C	ENST00000284425.2	-	34	4516	c.4342C>G	c.(4342-4344)Cag>Gag	p.Q1448E	ABCA6_ENST00000446604.2_5'UTR	NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	1448	ABC transporter 2.				transport	integral to membrane	ATP binding|ATPase activity			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					ATTTGCTGCTGCCCTGTGGGG	0.483													3	49					0	0	0.004672	0	0	C	67080415	G	C	67080415	3	2	88	1	0	0	0	0	1	0	0	0	36	1328	46	5	535	5	ABCA6	17	67080415	Missense_Mutation	SNP	G	TCGA-DU-6400-01A-12D-1705-08	19029124	67080415	14114795	40	19560											
PLIN4	729359	broad.mit.edu	37	19	4511137	4511137	+	Silent	SNP	G	G	A			TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chr19:4511137G>A	ENST00000301286.3	-	3	2792	c.2793C>T	c.(2791-2793)acC>acT	p.T931T		NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4	931	27 X 33 AA approximate tandem repeat.					lipid particle|plasma membrane				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						CTGTCTGGACGGTCCCTTTGG	0.597													12	52					0	0	0.09319	0	0	A	4511137	G	A	4511137	2	1	88	1	0	0	0	0	0	0	0	1	12140	1103	39	1		1	PLIN4	19	4511137	Silent	SNP	G	TCGA-DU-6400-01A-12D-1705-08		4511137	54617846	41	19561											
ACTL9	284382	broad.mit.edu	37	19	8808420	8808420	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chr19:8808420C>T	ENST00000324436.3	-	1	752	c.632G>A	c.(631-633)gGc>gAc	p.G211D		NM_178525.3	NP_848620.3	Q8TC94	ACTL9_HUMAN	actin-like 9	211						cytoplasm|cytoskeleton				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(15)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	36						CAGGTTGTAGCCCTGGAAGAC	0.682													24	22					0	0	0.034045	0	0	T	8808420	C	T	8808420	3	4	88	1	0	0	0	0	1	0	0	0	203	739	26	2	622	2	ACTL9	19	8808420	Missense_Mutation	SNP	C	TCGA-DU-6400-01A-12D-1705-08	4297283	8808420	50320563	42	19562											
CIC	23152	broad.mit.edu	37	19	42791721	42791721	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chr19:42791721C>T	ENST00000572681.2	+	6	3402	c.3334C>T	c.(3334-3336)Ccc>Tcc	p.P1112S	CIC_ENST00000160740.3_Missense_Mutation_p.P203S|CIC_ENST00000575354.2_Missense_Mutation_p.P203S			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	203	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CATCCGGCGGCCCATGAATGC	0.627			"Mis, F, S"		oligodendroglioma								12	24					0	0	0.09319	0	0	T	42791721	C	T	42791721	3	4	88	1	0	0	0	0	1	0	0	0	3446	739	26	2	625	2	CIC	19	42791721	Missense_Mutation	SNP	C	TCGA-DU-6400-01A-12D-1705-08	33983301	42791721	16337262	43	19563											
CIC	23152	broad.mit.edu	37	19	42793381	42793381	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chr19:42793381delT	ENST00000572681.2	+	9	3978	c.3910delT	c.(3910-3912)tatfs	p.Y1304fs	CIC_ENST00000575354.2_Frame_Shift_Del_p.Y395fs|CIC_ENST00000160740.3_Frame_Shift_Del_p.Y395fs			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	395					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				TTCTACCCAGTATGGAGCTCC	0.657			"Mis, F, S"		oligodendroglioma								37	26	---	---	---	---						-	42793381	T	-	42793381	7	5	88	1	0	1	0	1	0	0	0	0	3446	1638	57	0	1213	0	CIC	19	42793381	Frame_Shift_Del	DEL	T	TCGA-DU-6400-01A-12D-1705-08	1660	42793381	16335602	44	19564											
LILRB5	10990	broad.mit.edu	37	19	54754838	54754839	+	Frame_Shift_Ins	INS	-	-	G	rs11375503		TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chr19:54754838_54754839insG	ENST00000450632.1	-	13	1873_1874	c.1796_1797insC	c.(1795-1797)ccafs	p.P599fs	LILRB5_ENST00000449561.2_Intron|LILRB5_ENST00000316219.5_Intron|LILRB5_ENST00000345866.6_Intron			O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5	424					cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GTGGTGGGGGTGGGGAGGCCTG	0.604													5	1	---	---	---	---						G	54754839	-	G	54754838	7	5	88	1	0	1	1	0	0	0	0	0	8834	1711	59	0		0	LILRB5	19	54754838	Frame_Shift_Ins	INS	-	TCGA-DU-6400-01A-12D-1705-08	11961457	54754838	4374145	45	19565											
BAGE2	85319	broad.mit.edu	37	21	11058337	11058337	+	RNA	SNP	A	A	G			TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chr21:11058337A>G	ENST00000470054.1	-	0	324									B melanoma antigen family, member 2															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)		AAAGGGGTAAAGGAGAGAAAT	0.368													5	125					0	0	0.021553	0	0	G	11058337	A	G	11058337	1	3	88	0	1	0	0	0	0	0	0	0	1290	87	3	3		3	BAGE2	21	11058337	RNA	SNP	A	TCGA-DU-6400-01A-12D-1705-08		11058337	37071558	46	19566											
ZBED1	9189	broad.mit.edu	37	X	2407265	2407265	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chrX:2407265T>A	ENST00000381223.4	-	2	1699	c.1496A>T	c.(1495-1497)gAa>gTa	p.E499V	DHRSX_ENST00000334651.5_Intron|ZBED1_ENST00000381222.2_Missense_Mutation_p.E499V|ZBED1_ENST00000381218.3_Missense_Mutation_p.E499V	NM_001171135.1|NM_001171136.1|NM_004729.3	NP_001164606.1|NP_001164607.1|NP_004720.1	O96006	ZBED1_HUMAN	zinc finger, BED-type containing 1	499						nuclear chromosome	DNA binding|metal ion binding|protein dimerization activity|transposase activity			endometrium(8)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	25		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CTTGGCCTCTTCCACCACGCG	0.637													47	49					0	0	0.048971	0	0	A	2407265	T	A	2407265	3	1	88	1	0	0	0	0	1	0	0	0	17577	1783	62	5	592	5	ZBED1	23	2407265	Missense_Mutation	SNP	T	TCGA-DU-6400-01A-12D-1705-08		2407265	152863295	47	19567											
DCAF8L1	139425	broad.mit.edu	37	X	27998600	27998600	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chrX:27998600C>A	ENST00000441525.1	-	1	966	c.852G>T	c.(850-852)aaG>aaT	p.K284N		NM_001017930.1	NP_001017930.1	A6NGE4	DC8L1_HUMAN	DDB1 and CUL4 associated factor 8-like 1	284										NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						GTCCCCTGTGCTTGGCCACAC	0.517													15	60					1.02788e-11	1.08747e-11	0.0333	1	0	A	27998600	C	A	27998600	3	1	88	1	0	0	0	0	1	0	0	0	4301	796	28	4	954	4	DCAF8L1	23	27998600	Missense_Mutation	SNP	C	TCGA-DU-6400-01A-12D-1705-08	25591335	27998600	127271960	48	19568											
WAS	7454	broad.mit.edu	37	X	48542340	48542340	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chrX:48542340A>G	ENST00000376701.4	+	1	173	c.98A>G	c.(97-99)cAg>cGg	p.Q33R	WAS_ENST00000483750.1_3'UTR	NM_000377.2	NP_000368.1	P42768	WASP_HUMAN	Wiskott-Aldrich syndrome	33					blood coagulation|defense response|epidermis development|immune response|T cell receptor signaling pathway	actin cytoskeleton|cytosol	identical protein binding|small GTPase regulator activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28		all_lung(315;1.27e-10)				CACGAGAACCAGCGACTCTTT	0.622			"Mis, N, F, S"			lymphoma							9	63					0	0	0.058154	0	0	G	48542340	A	G	48542340	3	3	88	1	0	0	0	0	1	0	0	0	17311	188	7	3	100	3	WAS	23	48542340	Missense_Mutation	SNP	A	TCGA-DU-6400-01A-12D-1705-08	20543740	48542340	106728220	49	19569											
NUDT10	170685	broad.mit.edu	37	X	51075880	51075880	+	Silent	SNP	G	G	A			TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chrX:51075880G>A	ENST00000376006.3	+	2	283	c.63G>A	c.(61-63)gcG>gcA	p.A21A	NUDT10_ENST00000356450.2_Silent_p.A21A	NM_153183.2	NP_694853.1	Q8NFP7	NUD10_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 10	21	Nudix hydrolase.					cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding			cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(1)|prostate(3)|upper_aerodigestive_tract(1)	16	Ovarian(276;0.236)					AGCGGGCGGCGTGCCTGTGCT	0.672													12	9					0	0	0.09319	0	0	A	51075880	G	A	51075880	2	1	88	1	0	0	0	0	0	0	0	1	10774	1132	40	1		1	NUDT10	23	51075880	Silent	SNP	G	TCGA-DU-6400-01A-12D-1705-08	2533540	51075880	104194680	50	19570											
ZC3H12B	340554	broad.mit.edu	37	X	64721755	64721755	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chrX:64721755C>T	ENST00000338957.4	+	5	1244	c.1177C>T	c.(1177-1179)Cgc>Tgc	p.R393C	ZC3H12B_ENST00000423889.3_Missense_Mutation_p.R382C	NM_001010888.3	NP_001010888.3	Q5HYM0	ZC12B_HUMAN	zinc finger CCCH-type containing 12B	382							endonuclease activity|nucleic acid binding|zinc ion binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TGATGAGCTCCGCATCAGTGC	0.522													7	15					0	0	0.02938	0	0	T	64721755	C	T	64721755	3	4	88	1	0	0	0	0	1	0	0	0	17621	652	23	1	1195	1	ZC3H12B	23	64721755	Missense_Mutation	SNP	C	TCGA-DU-6400-01A-12D-1705-08	13645875	64721755	90548805	51	19571											
PCDH11X	27328	broad.mit.edu	37	X	91090710	91090710	+	Silent	SNP	C	C	T			TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chrX:91090710C>T	ENST00000373094.1	+	1	1052	c.207C>T	c.(205-207)acC>acT	p.T69T	PCDH11X_ENST00000373088.1_Silent_p.T69T|PCDH11X_ENST00000504220.2_Silent_p.T69T|PCDH11X_ENST00000361724.1_Silent_p.T69T|PCDH11X_ENST00000361655.2_Silent_p.T69T|PCDH11X_ENST00000395337.2_Silent_p.T69T|PCDH11X_ENST00000298274.8_Silent_p.T69T|PCDH11X_ENST00000373097.1_Silent_p.T69T|PCDH11X_ENST00000406881.1_Silent_p.T69T	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	69	Cadherin 1.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						TGTACAAGACCGGAGATGTGC	0.458													27	134					0	0	0.108266	0	0	T	91090710	C	T	91090710	2	4	88	1	0	0	0	0	0	0	0	1	11555	639	23	1		1	PCDH11X	23	91090710	Silent	SNP	C	TCGA-DU-6400-01A-12D-1705-08	26368955	91090710	64179850	52	19572											
TBC1D8B	54885	broad.mit.edu	37	X	106046201	106046201	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chrX:106046201delG	ENST00000357242.5	+	1	292	c.118delG	c.(118-120)gggfs	p.G41fs	TBC1D8B_ENST00000481617.2_Frame_Shift_Del_p.G41fs|TBC1D8B_ENST00000276175.3_Frame_Shift_Del_p.G41fs|TBC1D8B_ENST00000310452.2_Frame_Shift_Del_p.G41fs	NM_017752.2	NP_060222.2	Q0IIM8	TBC8B_HUMAN	TBC1 domain family, member 8B (with GRAM domain)	41						intracellular	calcium ion binding|Rab GTPase activator activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						GGAAGGCGGAGGGGGGCTCAC	0.577													15	23	---	---	---	---						-	106046201	G	-	106046201	7	5	88	1	0	1	0	1	0	0	0	0	15686	1000	35	0	120	0	TBC1D8B	23	106046201	Frame_Shift_Del	DEL	G	TCGA-DU-6400-01A-12D-1705-08	14955491	106046201	49224359	53	19573											
RGAG1	57529	broad.mit.edu	37	X	109696415	109696415	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chrX:109696415G>A	ENST00000465301.2	+	3	2816	c.2570G>A	c.(2569-2571)gGg>gAg	p.G857E	RGAG1_ENST00000540313.1_Missense_Mutation_p.G857E	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	857										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						GCCTCTGGAGGGATGTCCATG	0.527													96	143					0	0	0.048971	0	0	A	109696415	G	A	109696415	3	1	88	1	0	0	0	0	1	0	0	0	13326	1232	43	2	2572	2	RGAG1	23	109696415	Missense_Mutation	SNP	G	TCGA-DU-6400-01A-12D-1705-08	3650214	109696415	45574145	54	19574											
GPR112	139378	broad.mit.edu	37	X	135405538	135405538	+	Silent	SNP	G	G	A			TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chrX:135405538G>A	ENST00000394143.1	+	5	963	c.672G>A	c.(670-672)agG>agA	p.R224R	GPR112_ENST00000412101.1_Intron|GPR112_ENST00000287534.4_Silent_p.R161R|GPR112_ENST00000394141.1_Intron|GPR112_ENST00000370652.1_Silent_p.R224R	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	224					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					CTGTTGACAGGACACTGCGCT	0.433													12	131					0	0	0.105934	0	0	A	135405538	G	A	135405538	2	1	88	1	0	0	0	0	0	0	0	1	6669	1165	41	2		2	GPR112	23	135405538	Silent	SNP	G	TCGA-DU-6400-01A-12D-1705-08	25709123	135405538	19865022	55	19575											
C1orf174	339448	broad.mit.edu	37	1	3809463	3809463	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6401-01A-11D-1705-08	TCGA-DU-6401-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a81f733-b3a3-4578-b925-a663612bc92c	194434ed-46e0-4ce9-9f8f-38593d2d09c7	g.chr1:3809463G>A	ENST00000361605.3	-	2	211	c.113C>T	c.(112-114)gCc>gTc	p.A38V	C1orf174_ENST00000486765.1_5'UTR	NM_207356.2	NP_997239.2	Q8IYL3	CA174_HUMAN	chromosome 1 open reading frame 174	38										endometrium(1)|large_intestine(5)|lung(4)|prostate(1)	11	all_cancers(77;0.0395)|Ovarian(185;0.0634)|all_lung(157;0.222)|Lung NSC(156;0.227)	all_cancers(23;5.09e-25)|all_epithelial(116;9.35e-17)|all_lung(118;1.09e-06)|Lung NSC(185;0.000139)|all_neural(13;0.00287)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0219)|all_hematologic(16;0.027)|Colorectal(325;0.0276)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.0743)|Ovarian(437;0.127)		Epithelial(90;1.55e-39)|OV - Ovarian serous cystadenocarcinoma(86;5.99e-23)|GBM - Glioblastoma multiforme(42;2.22e-17)|Colorectal(212;1.08e-05)|COAD - Colon adenocarcinoma(227;5.49e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000365)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.19)		TGCTGTCTTGGCAGACGTGGA	0.542													3	28					0	0	0.115264	0	0	A	3809463	G	A	3809463	3	1	89	1	0	0	0	0	1	0	0	0	2028	1203	42	2	630	2	C1orf174	1	3809463	Missense_Mutation	SNP	G	TCGA-DU-6401-01A-11D-1705-08		3809463	245441158	1	19576											
DHDDS	79947	broad.mit.edu	37	1	26772898	26772898	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6401-01A-11D-1705-08	TCGA-DU-6401-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a81f733-b3a3-4578-b925-a663612bc92c	194434ed-46e0-4ce9-9f8f-38593d2d09c7	g.chr1:26772898G>A	ENST00000360009.2	+	5	492	c.415G>A	c.(415-417)Gta>Ata	p.V139I	DHDDS_ENST00000374185.3_Missense_Mutation_p.V139I|DHDDS_ENST00000525682.2_Missense_Mutation_p.V139I|DHDDS_ENST00000236342.7_Missense_Mutation_p.V139I|DHDDS_ENST00000526219.1_Intron|DHDDS_ENST00000427245.2_Missense_Mutation_p.V139I	NM_024887.3|NM_205861.2	NP_079163.2|NP_995583.1	Q86SQ9	DHDDS_HUMAN	dehydrodolichyl diphosphate synthase	139							protein binding|transferase activity, transferring alkyl or aryl (other than methyl) groups			breast(5)|endometrium(2)|large_intestine(2)|lung(4)|stomach(1)|urinary_tract(1)	15		all_cancers(24;2.04e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.0161)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.166)|LUSC - Lung squamous cell carcinoma(448;0.239)		TGCACAAGCTGTACAGGCCAC	0.517													41	79					0	0	0.864702	0	0	A	26772898	G	A	26772898	3	1	89	1	0	0	0	0	1	0	0	0	4506	1377	48	2	429	2	DHDDS	1	26772898	Missense_Mutation	SNP	G	TCGA-DU-6401-01A-11D-1705-08	22963435	26772898	222477723	2	19577											
IDH1	3417	broad.mit.edu	37	2	209113113	209113113	+	Missense_Mutation	SNP	G	G	T	rs121913499		TCGA-DU-6401-01A-11D-1705-08	TCGA-DU-6401-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a81f733-b3a3-4578-b925-a663612bc92c	194434ed-46e0-4ce9-9f8f-38593d2d09c7	g.chr2:209113113G>T	ENST00000415913.1	-	4	775	c.394C>A	c.(394-396)Cgt>Agt	p.R132S	IDH1_ENST00000446179.1_Missense_Mutation_p.R132S|IDH1_ENST00000345146.2_Missense_Mutation_p.R132S	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		TAAGCATGACGACCTATGATG	0.398			Mis		gliobastoma								26	48					6.32553e-13	7.52225e-13	0.681144	1	0	T	209113113	G	T	209113113	3	4	89	1	0	0	0	0	1	0	0	0	7538	1058	37	5	878	5	IDH1	2	209113113	Missense_Mutation	SNP	G	TCGA-DU-6401-01A-11D-1705-08		209113113	34086260	3	19578											
SLIT2	9353	broad.mit.edu	37	4	20490510	20490510	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6401-01A-11D-1705-08	TCGA-DU-6401-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a81f733-b3a3-4578-b925-a663612bc92c	194434ed-46e0-4ce9-9f8f-38593d2d09c7	g.chr4:20490510G>A	ENST00000504154.1	+	8	932	c.680G>A	c.(679-681)aGg>aAg	p.R227K	SLIT2_ENST00000503823.1_Missense_Mutation_p.R227K|SLIT2_ENST00000273739.5_Missense_Mutation_p.R227K|SLIT2_ENST00000503837.1_Missense_Mutation_p.R227K	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	227	LRRCT 1.				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						CTTCGCCAAAGGCCTCGGGTT	0.498													31	154					0	0	0.796494	0	0	A	20490510	G	A	20490510	3	1	89	1	0	0	0	0	1	0	0	0	14794	1000	35	2	710	2	SLIT2	4	20490510	Missense_Mutation	SNP	G	TCGA-DU-6401-01A-11D-1705-08		20490510	170663766	4	19579											
PRPH2	5961	broad.mit.edu	37	6	42690067	42690067	+	Silent	SNP	C	C	T			TCGA-DU-6401-01A-11D-1705-08	TCGA-DU-6401-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a81f733-b3a3-4578-b925-a663612bc92c	194434ed-46e0-4ce9-9f8f-38593d2d09c7	g.chr6:42690067C>T	ENST00000230381.5	-	1	245	c.6G>A	c.(4-6)gcG>gcA	p.A2A		NM_000322.4	NP_000313.2	P23942	PRPH2_HUMAN	peripherin 2 (retinal degeneration, slow)	2					cell adhesion|visual perception	integral to membrane				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	18	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.00178)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0904)			CTTTCAGTAGCGCCATGCTTG	0.552													3	44					0	0	0.115264	0	0	T	42690067	C	T	42690067	2	4	89	1	0	0	0	0	0	0	0	1	12629	755	27	1		1	PRPH2	6	42690067	Silent	SNP	C	TCGA-DU-6401-01A-11D-1705-08		42690067	128425000	5	19580											
LAMA2	3908	broad.mit.edu	37	6	129419503	129419503	+	Silent	SNP	T	T	C			TCGA-DU-6401-01A-11D-1705-08	TCGA-DU-6401-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a81f733-b3a3-4578-b925-a663612bc92c	194434ed-46e0-4ce9-9f8f-38593d2d09c7	g.chr6:129419503T>C	ENST00000421865.2	+	4	631	c.582T>C	c.(580-582)gaT>gaC	p.D194D		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	194	Laminin N-terminal.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		ATGCCAAAGATGATGAGGTCA	0.443													9	60					0	0	0.307466	0	0	C	129419503	T	C	129419503	2	2	89	1	0	0	0	0	0	0	0	1	8645	1461	51	3		3	LAMA2	6	129419503	Silent	SNP	T	TCGA-DU-6401-01A-11D-1705-08	86729436	129419503	41695564	6	19581											
TNFAIP3	7128	broad.mit.edu	37	6	138199814	138199814	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6401-01A-11D-1705-08	TCGA-DU-6401-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a81f733-b3a3-4578-b925-a663612bc92c	194434ed-46e0-4ce9-9f8f-38593d2d09c7	g.chr6:138199814G>A	ENST00000237289.4	+	7	1298	c.1232G>A	c.(1231-1233)cGg>cAg	p.R411Q		NM_001270507.1|NM_001270508.1|NM_006290.3	NP_001257436.1|NP_001257437.1|NP_006281.1	P21580	TNAP3_HUMAN	tumor necrosis factor, alpha-induced protein 3	411	Interaction with NAF1 (By similarity).				anti-apoptosis|apoptosis|B-1 B cell homeostasis|negative regulation of B cell activation|negative regulation of bone resorption|negative regulation of CD40 signaling pathway|negative regulation of endothelial cell apoptosis|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of inflammatory response|negative regulation of interleukin-2 production|negative regulation of interleukin-6 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of osteoclast proliferation|negative regulation of protein ubiquitination|negative regulation of smooth muscle cell proliferation|negative regulation of toll-like receptor 2 signaling pathway|negative regulation of toll-like receptor 3 signaling pathway|negative regulation of tumor necrosis factor production|negative regulation of type I interferon production|positive regulation of protein catabolic process|protein K48-linked ubiquitination|protein K63-linked deubiquitination|protein oligomerization|regulation of defense response to virus by host|regulation of germinal center formation|regulation of vascular wound healing|tolerance induction to lipopolysaccharide	centrosome|cytosol|nucleus	caspase inhibitor activity|DNA binding|protease binding|protein self-association|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-protein ligase activity|ubiquitin-specific protease activity|zinc ion binding	p.0?(25)		breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(196)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	225	Breast(32;0.135)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000849)|OV - Ovarian serous cystadenocarcinoma(155;0.00468)		TCAGAGAGGCGGCAAAAGAAT	0.557			"D, N, F"		"marginal zone B-cell lymphomas, Hodgkin's lymphoma, primary mediastinal B cell lymphoma"								6	76					0	0	0.248553	0	0	A	138199814	G	A	138199814	3	1	89	1	0	0	0	0	1	0	0	0	16334	1116	39	1	1254	1	TNFAIP3	6	138199814	Missense_Mutation	SNP	G	TCGA-DU-6401-01A-11D-1705-08	8780311	138199814	32915253	7	19582											
SMOC2	64094	broad.mit.edu	37	6	168947817	168947817	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6401-01A-11D-1705-08	TCGA-DU-6401-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a81f733-b3a3-4578-b925-a663612bc92c	194434ed-46e0-4ce9-9f8f-38593d2d09c7	g.chr6:168947817C>A	ENST00000354536.5	+	6	783	c.563C>A	c.(562-564)gCg>gAg	p.A188E	SMOC2_ENST00000356284.2_Missense_Mutation_p.A177E	NM_022138.2	NP_071421.1	Q9H3U7	SMOC2_HUMAN	SPARC related modular calcium binding 2	177					signal transduction	basement membrane	calcium ion binding	p.A188G(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	32		Breast(66;0.000141)|Esophageal squamous(34;0.222)|Ovarian(120;0.231)		OV - Ovarian serous cystadenocarcinoma(33;1.31e-19)|BRCA - Breast invasive adenocarcinoma(81;3.06e-06)|GBM - Glioblastoma multiforme(31;0.00109)		GCAGCTCCAGCGTTGGAGACT	0.522													4	148					0.00909568	0.00930721	0.150653	1	0	A	168947817	C	A	168947817	3	1	89	1	0	0	0	0	1	0	0	0	14856	768	27	5	585	5	SMOC2	6	168947817	Missense_Mutation	SNP	C	TCGA-DU-6401-01A-11D-1705-08	30748003	168947817	2167250	8	19583											
PTCD1	26024	broad.mit.edu	37	7	99026819	99026819	+	Silent	SNP	G	G	A			TCGA-DU-6401-01A-11D-1705-08	TCGA-DU-6401-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a81f733-b3a3-4578-b925-a663612bc92c	194434ed-46e0-4ce9-9f8f-38593d2d09c7	g.chr7:99026819G>A	ENST00000292478.4	-	5	1072	c.822C>T	c.(820-822)atC>atT	p.I274I	ATP5J2-PTCD1_ENST00000413834.1_Silent_p.I323I|PTCD1_ENST00000555673.1_Silent_p.I323I|PTCD1_ENST00000485746.1_5'UTR	NM_015545.3	NP_056360.2			pentatricopeptide repeat domain 1											endometrium(5)|large_intestine(3)|lung(16)|ovary(2)|skin(1)	27	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)			GCCCTTTGTGGATGATTTCCT	0.557													9	89					0	0	0.38729	0	0	A	99026819	G	A	99026819	2	1	89	1	0	0	0	0	0	0	0	1	12776	1164	41	2		2	PTCD1	7	99026819	Silent	SNP	G	TCGA-DU-6401-01A-11D-1705-08		99026819	60111844	9	19584											
ESCO2	157570	broad.mit.edu	37	8	27634263	27634266	+	Frame_Shift_Del	DEL	TAAG	TAAG	-			TCGA-DU-6401-01A-11D-1705-08	TCGA-DU-6401-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a81f733-b3a3-4578-b925-a663612bc92c	194434ed-46e0-4ce9-9f8f-38593d2d09c7	g.chr8:27634263_27634266delTAAG	ENST00000305188.8	+	3	676_679	c.438_441delTAAG	c.(436-441)gctaagfs	p.AK146fs	ESCO2_ENST00000397418.2_5'UTR|ESCO2_ENST00000523910.1_3'UTR	NM_001017420.2	NP_001017420.1	Q56NI9	ESCO2_HUMAN	establishment of sister chromatid cohesion N-acetyltransferase 2	146					cell cycle|post-translational protein acetylation|regulation of DNA replication	chromatin|nucleus	acyltransferase activity|metal ion binding			autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Ovarian(32;0.000953)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|KIRC - Kidney renal clear cell carcinoma(542;0.0955)|Kidney(114;0.115)|Colorectal(74;0.132)		GTTTAACTGCTAAGTATCAACCAA	0.353									SC Phocomelia syndrome				23	39	---	---	---	---						-	27634266	TAAG	-	27634263	7	5	89	1	0	1	0	1	0	0	0	0	5277	1509	53	0	444	0	ESCO2	8	27634263	Frame_Shift_Del	DEL	TAAG	TCGA-DU-6401-01A-11D-1705-08		27634263	118729759	10	19585											
ENPP2	5168	broad.mit.edu	37	8	120596283	120596283	+	Silent	SNP	A	A	G			TCGA-DU-6401-01A-11D-1705-08	TCGA-DU-6401-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a81f733-b3a3-4578-b925-a663612bc92c	194434ed-46e0-4ce9-9f8f-38593d2d09c7	g.chr8:120596283A>G	ENST00000427067.2	-	16	1542	c.1362T>C	c.(1360-1362)ccT>ccC	p.P454P	ENPP2_ENST00000075322.6_Silent_p.P458P|ENPP2_ENST00000259486.6_Silent_p.P510P|ENPP2_ENST00000522826.1_Silent_p.P458P|ENPP2_ENST00000522167.1_Silent_p.P97P			Q13822	ENPP2_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 2	458					cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration	extracellular space|integral to plasma membrane	alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			AAACATCCAAAGGTTTCCTAA	0.348													66	61					0	0	0.870114	0	0	G	120596283	A	G	120596283	2	3	89	1	0	0	0	0	0	0	0	1	5158	59	3	3		3	ENPP2	8	120596283	Silent	SNP	A	TCGA-DU-6401-01A-11D-1705-08	92962020	120596283	25767739	11	19586											
KCNT1	57582	broad.mit.edu	37	9	138657002	138657002	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6401-01A-11D-1705-08	TCGA-DU-6401-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a81f733-b3a3-4578-b925-a663612bc92c	194434ed-46e0-4ce9-9f8f-38593d2d09c7	g.chr9:138657002G>T	ENST00000298480.5	+	12	1235	c.1161G>T	c.(1159-1161)atG>atT	p.M387I	KCNT1_ENST00000263604.3_Missense_Mutation_p.M368I|KCNT1_ENST00000486577.2_Missense_Mutation_p.M348I|KCNT1_ENST00000371757.2_Missense_Mutation_p.M387I|KCNT1_ENST00000490355.2_Missense_Mutation_p.M368I|KCNT1_ENST00000491806.2_Missense_Mutation_p.M354I|KCNT1_ENST00000487664.1_Missense_Mutation_p.M342I|KCNT1_ENST00000488444.2_Missense_Mutation_p.M368I			B7ZVY4	B7ZVY4_HUMAN	potassium channel, subfamily T, member 1	387						membrane	binding|calcium-activated potassium channel activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		ACCTTCTCATGGACTTCCTGA	0.642													11	87					3.86212e-05	4.14471e-05	0.361761	1	0	T	138657002	G	T	138657002	3	4	89	1	0	0	0	0	1	0	0	0	8135	1348	47	5	1207	5	KCNT1	9	138657002	Missense_Mutation	SNP	G	TCGA-DU-6401-01A-11D-1705-08		138657002	2556429	12	19587											
SLCO1B1	10599	broad.mit.edu	37	12	21329781	21329781	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6401-01A-11D-1705-08	TCGA-DU-6401-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a81f733-b3a3-4578-b925-a663612bc92c	194434ed-46e0-4ce9-9f8f-38593d2d09c7	g.chr12:21329781T>C	ENST00000256958.2	+	5	527	c.431T>C	c.(430-432)aTt>aCt	p.I144T		NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family, member 1B1	144					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)	ACTTGTTTAATTAATCAAATT	0.274													39	41					0	0	0.812448	0	0	C	21329781	T	C	21329781	3	2	89	1	0	0	0	0	1	0	0	0	14778	1493	52	3	445	3	SLCO1B1	12	21329781	Missense_Mutation	SNP	T	TCGA-DU-6401-01A-11D-1705-08		21329781	112522114	13	19588											
DDX55	57696	broad.mit.edu	37	12	124101060	124101060	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6401-01A-11D-1705-08	TCGA-DU-6401-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a81f733-b3a3-4578-b925-a663612bc92c	194434ed-46e0-4ce9-9f8f-38593d2d09c7	g.chr12:124101060G>T	ENST00000238146.4	+	10	1009	c.959G>T	c.(958-960)gGg>gTg	p.G320V	DDX55_ENST00000541259.1_3'UTR|DDX55_ENST00000538744.1_Intron	NM_020936.1	NP_065987.1	Q8NHQ9	DDX55_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 55	320	Helicase C-terminal.						ATP binding|ATP-dependent helicase activity|RNA binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	14	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000142)|Epithelial(86;0.000637)|all cancers(50;0.00772)		TTTCCTAGTGGGATTTTAGTG	0.473													4	67					5.9392e-07	6.53312e-07	0.217242	1	0	T	124101060	G	T	124101060	3	4	89	1	0	0	0	0	1	0	0	0	4396	1232	43	5	997	5	DDX55	12	124101060	Missense_Mutation	SNP	G	TCGA-DU-6401-01A-11D-1705-08	102771279	124101060	9750835	14	19589											
ZFYVE26	23503	broad.mit.edu	37	14	68251787	68251787	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6401-01A-11D-1705-08	TCGA-DU-6401-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a81f733-b3a3-4578-b925-a663612bc92c	194434ed-46e0-4ce9-9f8f-38593d2d09c7	g.chr14:68251787C>T	ENST00000347230.4	-	19	3650	c.3512G>A	c.(3511-3513)aGc>aAc	p.S1171N	ZFYVE26_ENST00000555452.1_Missense_Mutation_p.S1171N	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	1171					cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		AGGCTCAGAGCTCAAACTTTG	0.502													69	101					0	0	0.870114	0	0	T	68251787	C	T	68251787	3	4	89	1	0	0	0	0	1	0	0	0	17726	797	28	2	4203	2	ZFYVE26	14	68251787	Missense_Mutation	SNP	C	TCGA-DU-6401-01A-11D-1705-08		68251787	39097753	15	19590											
DYNC1H1	1778	broad.mit.edu	37	14	102508452	102508452	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6401-01A-11D-1705-08	TCGA-DU-6401-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a81f733-b3a3-4578-b925-a663612bc92c	194434ed-46e0-4ce9-9f8f-38593d2d09c7	g.chr14:102508452A>G	ENST00000360184.4	+	66	12369	c.12205A>G	c.(12205-12207)Att>Gtt	p.I4069V	RP11-1017G21.4_ENST00000553701.1_RNA|RP11-1017G21.4_ENST00000557242.1_RNA|RP11-1017G21.4_ENST00000557551.1_RNA	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	4069	AAA 6 (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						GATCACTTCAATTGCAATCGG	0.537													11	18					0	0	0.411799	0	0	G	102508452	A	G	102508452	3	3	89	1	0	0	0	0	1	0	0	0	4867	101	4	3	12467	3	DYNC1H1	14	102508452	Missense_Mutation	SNP	A	TCGA-DU-6401-01A-11D-1705-08	34256665	102508452	4841088	16	19591											
XPO6	23214	broad.mit.edu	37	16	28137080	28137080	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6401-01A-11D-1705-08	TCGA-DU-6401-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a81f733-b3a3-4578-b925-a663612bc92c	194434ed-46e0-4ce9-9f8f-38593d2d09c7	g.chr16:28137080G>A	ENST00000304658.5	-	13	2196	c.1696C>T	c.(1696-1698)Cgc>Tgc	p.R566C	XPO6_ENST00000565698.1_Missense_Mutation_p.R552C	NM_015171.3	NP_055986.1	Q96QU8	XPO6_HUMAN	exportin 6	566					protein export from nucleus		protein binding|protein transporter activity			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25						TCGGCCAGGCGGCCCACGGCC	0.582													29	111					0	0	0.729181	0	0	A	28137080	G	A	28137080	3	1	89	1	0	0	0	0	1	0	0	0	17508	1116	39	1	1729	1	XPO6	16	28137080	Missense_Mutation	SNP	G	TCGA-DU-6401-01A-11D-1705-08		28137080	62217673	17	19592											
ITGAD	3681	broad.mit.edu	37	16	31419095	31419095	+	Silent	SNP	C	C	T			TCGA-DU-6401-01A-11D-1705-08	TCGA-DU-6401-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a81f733-b3a3-4578-b925-a663612bc92c	194434ed-46e0-4ce9-9f8f-38593d2d09c7	g.chr16:31419095C>T	ENST00000389202.2	+	9	916	c.867C>T	c.(865-867)caC>caT	p.H289H		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	289	VWFA.				cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						AGGTGGGACACGCTTTCCAGG	0.617													17	21					0	0	0.557998	0	0	T	31419095	C	T	31419095	2	4	89	1	0	0	0	0	0	0	0	1	7928	535	19	1		1	ITGAD	16	31419095	Silent	SNP	C	TCGA-DU-6401-01A-11D-1705-08	3282015	31419095	58935658	18	19593											
TP53	7157	broad.mit.edu	37	17	7574018	7574018	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6401-01A-11D-1705-08	TCGA-DU-6401-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a81f733-b3a3-4578-b925-a663612bc92c	194434ed-46e0-4ce9-9f8f-38593d2d09c7	g.chr17:7574018G>A	ENST00000269305.4	-	10	1198	c.1009C>T	c.(1009-1011)Cgc>Tgc	p.R337C	TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.R337C|TP53_ENST00000455263.2_3'UTR|TP53_ENST00000359597.4_Intron|TP53_ENST00000420246.2_3'UTR	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	337	Interaction with CARM1.|Interaction with HIPK1 (By similarity).|Interaction with HIPK2.|Oligomerization.		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (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.R337C(18)|p.0?(8)|p.R337fs*8(2)|p.R337G(1)|p.?(1)|p.I332fs*5(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)		ATCTCGAAGCGCTCACGCCCA	0.522		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)			17	8					0	0	0.557998	0	0	A	7574018	G	A	7574018	3	1	89	1	0	0	0	0	1	0	0	0	16442	1087	38	1	180	1	TP53	17	7574018	Missense_Mutation	SNP	G	TCGA-DU-6401-01A-11D-1705-08		7574018	73621192	19	19594											
MYH4	4622	broad.mit.edu	37	17	10350460	10350460	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6401-01A-11D-1705-08	TCGA-DU-6401-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a81f733-b3a3-4578-b925-a663612bc92c	194434ed-46e0-4ce9-9f8f-38593d2d09c7	g.chr17:10350460C>T	ENST00000255381.2	-	35	5149	c.5039G>A	c.(5038-5040)cGc>cAc	p.R1680H	RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1680					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						GTTAGCTCTGCGCTCAACCAT	0.502													4	66					0	0	0.150653	0	0	T	10350460	C	T	10350460	3	4	89	1	0	0	0	0	1	0	0	0	10085	768	27	1	804	1	MYH4	17	10350460	Missense_Mutation	SNP	C	TCGA-DU-6401-01A-11D-1705-08	2776442	10350460	70844750	20	19595											
MAP2K3	5606	broad.mit.edu	37	17	21217496	21217496	+	Missense_Mutation	SNP	C	C	T	rs35755743		TCGA-DU-6401-01A-11D-1705-08	TCGA-DU-6401-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a81f733-b3a3-4578-b925-a663612bc92c	194434ed-46e0-4ce9-9f8f-38593d2d09c7	g.chr17:21217496C>T	ENST00000342679.4	+	12	1247	c.998C>T	c.(997-999)aCg>aTg	p.T333M	MAP2K3_ENST00000316920.6_Missense_Mutation_p.T304M|MAP2K3_ENST00000361818.5_Missense_Mutation_p.T304M	NM_145109.2	NP_659731.1	P46734	MP2K3_HUMAN	mitogen-activated protein kinase kinase 3	333					activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of transcription, DNA-dependent|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity								COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553)		ACCAAGAAGACGGACATTGCT	0.617													65	300					0	0	0.870114	0	0	T	21217496	C	T	21217496	3	4	89	1	0	0	0	0	1	0	0	0	9288	536	19	1	1044	1	MAP2K3	17	21217496	Missense_Mutation	SNP	C	TCGA-DU-6401-01A-11D-1705-08	10867036	21217496	59977714	21	19596											
TMC6	11322	broad.mit.edu	37	17	76116777	76116777	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6401-01A-11D-1705-08	TCGA-DU-6401-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a81f733-b3a3-4578-b925-a663612bc92c	194434ed-46e0-4ce9-9f8f-38593d2d09c7	g.chr17:76116777C>T	ENST00000590602.1	-	13	1831	c.1672G>A	c.(1672-1674)Gtc>Atc	p.V558I	TMC6_ENST00000306591.7_Intron|TMC6_ENST00000592076.1_Intron|TMC6_ENST00000392467.3_Missense_Mutation_p.V558I|TMC6_ENST00000322914.3_Missense_Mutation_p.V558I|TMC6_ENST00000322933.4_Intron|TMC6_ENST00000591436.1_Intron|TMC6_ENST00000589553.1_3'UTR			Q7Z403	TMC6_HUMAN	transmembrane channel-like 6	558						endoplasmic reticulum membrane|integral to membrane				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	14			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			AACATGAGGACGAAGTCCATC	0.637													29	106					0	0	0.717897	0	0	T	76116777	C	T	76116777	3	4	89	1	0	0	0	0	1	0	0	0	16049	536	19	1	777	1	TMC6	17	76116777	Missense_Mutation	SNP	C	TCGA-DU-6401-01A-11D-1705-08	54899281	76116777	5078433	22	19597											
CEACAM5	1048	broad.mit.edu	37	19	42224879	42224879	+	Silent	SNP	G	G	A			TCGA-DU-6401-01A-11D-1705-08	TCGA-DU-6401-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a81f733-b3a3-4578-b925-a663612bc92c	194434ed-46e0-4ce9-9f8f-38593d2d09c7	g.chr19:42224879G>A	ENST00000221992.6	+	8	1923	c.1809G>A	c.(1807-1809)tcG>tcA	p.S603S	CEACAM5_ENST00000405816.1_Silent_p.S603S|CEA_ENST00000598976.1_Intron|CEACAM5_ENST00000398599.4_Silent_p.S602S	NM_004363.2	NP_004354.2	P06731	CEAM5_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 5	603	Ig-like 7.					anchored to membrane|basolateral plasma membrane|integral to plasma membrane				breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		CCCCAGACTCGTCTTACCTTT	0.547													45	63					0	0	0.847076	0	0	A	42224879	G	A	42224879	2	1	89	1	0	0	0	0	0	0	0	1	3217	1132	40	1		1	CEACAM5	19	42224879	Silent	SNP	G	TCGA-DU-6401-01A-11D-1705-08		42224879	16904104	23	19598											
CELSR1	9620	broad.mit.edu	37	22	46929726	46929726	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-6401-01A-11D-1705-08	TCGA-DU-6401-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a81f733-b3a3-4578-b925-a663612bc92c	194434ed-46e0-4ce9-9f8f-38593d2d09c7	g.chr22:46929726G>C	ENST00000262738.3	-	1	3341	c.3342C>G	c.(3340-3342)aaC>aaG	p.N1114K	CELSR1_ENST00000395964.1_Missense_Mutation_p.N1114K|CELSR1_ENST00000497509.1_5'UTR	NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	1114	Cadherin 9.				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		TGTTGGACTTGTTGGTGACAT	0.592													78	91					0	0	0.870114	0	0	C	46929726	G	C	46929726	3	2	89	1	0	0	0	0	1	0	0	0	3243	1368	48	5	5842	5	CELSR1	22	46929726	Missense_Mutation	SNP	G	TCGA-DU-6401-01A-11D-1705-08		46929726	4374840	24	19599											
CXorf23	256643	broad.mit.edu	37	X	19983583	19983583	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6401-01A-11D-1705-08	TCGA-DU-6401-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a81f733-b3a3-4578-b925-a663612bc92c	194434ed-46e0-4ce9-9f8f-38593d2d09c7	g.chrX:19983583G>T	ENST00000379687.3	-	3	886	c.853C>A	c.(853-855)Cgt>Agt	p.R285S	CXorf23_ENST00000356980.3_Missense_Mutation_p.R285S|CXorf23_ENST00000379682.4_Missense_Mutation_p.R285S	NM_198279.3	NP_938020.2	A2AJT9	CX023_HUMAN	chromosome X open reading frame 23	285						mitochondrion				endometrium(2)|large_intestine(1)|lung(6)|skin(1)|urinary_tract(1)	11						AGCTTAGGACGTTTGTGACGA	0.458													36	33					1.47244e-24	1.79965e-24	0.819951	1	0	T	19983583	G	T	19983583	3	4	89	1	0	0	0	0	1	0	0	0	4126	1145	40	5	1231	5	CXorf23	23	19983583	Missense_Mutation	SNP	G	TCGA-DU-6401-01A-11D-1705-08		19983583	135286977	25	19600											
HDAC6	10013	broad.mit.edu	37	X	48682452	48682452	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6401-01A-11D-1705-08	TCGA-DU-6401-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a81f733-b3a3-4578-b925-a663612bc92c	194434ed-46e0-4ce9-9f8f-38593d2d09c7	g.chrX:48682452A>G	ENST00000334136.5	+	27	3602	c.3424A>G	c.(3424-3426)Aat>Gat	p.N1142D	HDAC6_ENST00000376619.2_Missense_Mutation_p.N1142D|HDAC6_ENST00000444343.2_Missense_Mutation_p.N1156D			Q9UBN7	HDAC6_HUMAN	histone deacetylase 6	1142					aggresome assembly|cellular response to hydrogen peroxide|Hsp90 deacetylation|lysosome localization|macroautophagy|misfolded or incompletely synthesized protein catabolic process|negative regulation of proteolysis|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|polyubiquitinated misfolded protein transport|positive regulation of apoptosis|positive regulation of cellular chaperone-mediated protein complex assembly|positive regulation of epithelial cell migration|positive regulation of receptor biosynthetic process|positive regulation of signal transduction|regulation of androgen receptor signaling pathway|regulation of receptor activity|response to growth factor stimulus|response to toxin|transcription, DNA-dependent|tubulin deacetylation	aggresome|caveola|cell leading edge|cytosol|histone deacetylase complex|microtubule associated complex|perinuclear region of cytoplasm	actin binding|alpha-tubulin binding|beta-catenin binding|dynein complex binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|Hsp90 protein binding|microtubule binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|polyubiquitin binding|tau protein binding|tubulin deacetylase activity|zinc ion binding			breast(2)|endometrium(6)|kidney(5)|large_intestine(8)|lung(9)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	40					Vorinostat(DB02546)	AATCCAAGAGAATTGGGTGTG	0.592													5	48					0	0	0.184627	0	0	G	48682452	A	G	48682452	3	3	89	1	0	0	0	0	1	0	0	0	7052	246	9	3	3526	3	HDAC6	23	48682452	Missense_Mutation	SNP	A	TCGA-DU-6401-01A-11D-1705-08	28698869	48682452	106588108	26	19601											
ATRX	546	broad.mit.edu	37	X	76939673	76939674	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DU-6401-01A-11D-1705-08	TCGA-DU-6401-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a81f733-b3a3-4578-b925-a663612bc92c	194434ed-46e0-4ce9-9f8f-38593d2d09c7	g.chrX:76939673_76939674insT	ENST00000373344.5	-	9	1288_1289	c.1074_1075insA	c.(1072-1077)aaactgfs	p.L359fs	ATRX_ENST00000395603.3_Frame_Shift_Ins_p.L321fs|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	359					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						52	95	---	---	---	---						T	76939674	-	T	76939673	7	5	89	1	0	1	1	0	0	0	0	0	1206	1020	36	0	6511	0	ATRX	23	76939673	Frame_Shift_Ins	INS	-	TCGA-DU-6401-01A-11D-1705-08	28257221	76939673	78330887	27	19602											
LPAR4	2846	broad.mit.edu	37	X	78010568	78010568	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6401-01A-11D-1705-08	TCGA-DU-6401-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a81f733-b3a3-4578-b925-a663612bc92c	194434ed-46e0-4ce9-9f8f-38593d2d09c7	g.chrX:78010568A>G	ENST00000435339.3	+	2	588	c.202A>G	c.(202-204)Atg>Gtg	p.M68V		NM_005296.2	NP_005287.1	Q99677	LPAR4_HUMAN	lysophosphatidic acid receptor 4							integral to plasma membrane	lipid binding|purinergic nucleotide receptor activity, G-protein coupled			breast(3)|endometrium(3)|kidney(4)|large_intestine(4)|lung(16)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	38						CTGTTTCCGCATGAAAATGAG	0.358													49	251					0	0	0.870114	0	0	G	78010568	A	G	78010568	3	3	89	1	0	0	0	0	1	0	0	0	8952	217	8	3	204	3	LPAR4	23	78010568	Missense_Mutation	SNP	A	TCGA-DU-6401-01A-11D-1705-08	1070895	78010568	77259992	28	19603											
GLUD2	2747	broad.mit.edu	37	X	120182836	120182836	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6401-01A-11D-1705-08	TCGA-DU-6401-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a81f733-b3a3-4578-b925-a663612bc92c	194434ed-46e0-4ce9-9f8f-38593d2d09c7	g.chrX:120182836G>A	ENST00000328078.1	+	1	1375	c.1298G>A	c.(1297-1299)gGa>gAa	p.G433E		NM_012084.3	NP_036216.2	P49448	DHE4_HUMAN	glutamate dehydrogenase 2	433					glutamate biosynthetic process|glutamate catabolic process	mitochondrial matrix	ADP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|leucine binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|urinary_tract(1)	38					L-Glutamic Acid(DB00142)|NADH(DB00157)	TTGAATGCTGGAGGAGTGACA	0.418													18	191					0	0	0.608945	0	0	A	120182836	G	A	120182836	3	1	89	1	0	0	0	0	1	0	0	0	6519	1174	41	2	1300	2	GLUD2	23	120182836	Missense_Mutation	SNP	G	TCGA-DU-6401-01A-11D-1705-08	42172268	120182836	35087724	29	19604											
MAGEC1	9947	broad.mit.edu	37	X	140995655	140995655	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6401-01A-11D-1705-08	TCGA-DU-6401-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a81f733-b3a3-4578-b925-a663612bc92c	194434ed-46e0-4ce9-9f8f-38593d2d09c7	g.chrX:140995655C>T	ENST00000285879.4	+	4	2751	c.2465C>T	c.(2464-2466)tCa>tTa	p.S822L	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	822							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TCCTCCACTTCATCGAGTCTT	0.562										HNSCC(15;0.026)			10	209					0	0	0.361761	0	0	T	140995655	C	T	140995655	3	4	89	1	0	0	0	0	1	0	0	0	9230	838	29	2	2471	2	MAGEC1	23	140995655	Missense_Mutation	SNP	C	TCGA-DU-6401-01A-11D-1705-08	20812819	140995655	14274905	30	19605											
PLOD1	5351	broad.mit.edu	37	1	12034759	12034759	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6402-01A-11D-1705-08	TCGA-DU-6402-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896ec7d7-5443-49bb-969b-7b483e9b518c	3bc825bc-5589-4e0b-b380-38fceee3231b	g.chr1:12034759G>T	ENST00000196061.4	+	19	2105	c.2078G>T	c.(2077-2079)aGg>aTg	p.R693M	PLOD1_ENST00000376369.3_Missense_Mutation_p.R740M	NM_000302.3	NP_000293.2	Q02809	PLOD1_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1	693	Fe2OG dioxygenase.				epidermis development|hydroxylysine biosynthetic process|protein modification process|response to hypoxia	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein homodimerization activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000809)|KIRC - Kidney renal clear cell carcinoma(229;0.00267)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	Minoxidil(DB00350)|Succinic acid(DB00139)|Vitamin C(DB00126)	CGAGCCCCAAGGAAGGGCTGG	0.647													3	30					0.115264	0.119814	0.115264	1	0	T	12034759	G	T	12034759	3	4	90	1	0	0	0	0	1	0	0	0	12149	1000	35	4	2152	4	PLOD1	1	12034759	Missense_Mutation	SNP	G	TCGA-DU-6402-01A-11D-1705-08		12034759	237215862	1	19606											
PRAMEF4	400735	broad.mit.edu	37	1	12941802	12941802	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6402-01A-11D-1705-08	TCGA-DU-6402-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896ec7d7-5443-49bb-969b-7b483e9b518c	3bc825bc-5589-4e0b-b380-38fceee3231b	g.chr1:12941802C>T	ENST00000235349.5	-	3	818	c.748G>A	c.(748-750)Gtt>Att	p.V250I		NM_001009611.2	NP_001009611.1	O60810	PRAM4_HUMAN	PRAME family member 4	250										breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(3)|skin(1)	24	Ovarian(185;0.249)	Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TCTGGGGAAACGTAGCGAGAG	0.488													78	159					0	0	0.139131	0	0	T	12941802	C	T	12941802	3	4	90	1	0	0	0	0	1	0	0	0	12488	536	19	1	696	1	PRAMEF4	1	12941802	Missense_Mutation	SNP	C	TCGA-DU-6402-01A-11D-1705-08	907043	12941802	236308819	2	19607											
HIST2H2BE	8349	broad.mit.edu	37	1	149858178	149858178	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6402-01A-11D-1705-08	TCGA-DU-6402-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896ec7d7-5443-49bb-969b-7b483e9b518c	3bc825bc-5589-4e0b-b380-38fceee3231b	g.chr1:149858178C>T	ENST00000369155.2	-	1	54	c.13G>A	c.(13-15)Gca>Aca	p.A5T		NM_003528.2	NP_003519.1	Q16778	H2B2E_HUMAN	histone cluster 2, H2be	5				A -> S (in Ref. 7; AAH98112/AAH98289).	defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	14	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			GCGGATTTTGCCGGTTCAGGC	0.507													3	45					0	0	0.115264	0	0	T	149858178	C	T	149858178	3	4	90	1	0	0	0	0	1	0	0	0	7220	739	26	2	371	2	HIST2H2BE	1	149858178	Missense_Mutation	SNP	C	TCGA-DU-6402-01A-11D-1705-08	136916376	149858178	99392443	3	19608											
TCHH	7062	broad.mit.edu	37	1	152082385	152082385	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6402-01A-11D-1705-08	TCGA-DU-6402-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896ec7d7-5443-49bb-969b-7b483e9b518c	3bc825bc-5589-4e0b-b380-38fceee3231b	g.chr1:152082385C>T	ENST00000368804.1	-	2	3307	c.3308G>A	c.(3307-3309)cGc>cAc	p.R1103H		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1103	10 X 30 AA tandem repeats.				keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCGCTCCTGGCGCCTTCTCTT	0.612													19	42					0	0	0.219247	0	0	T	152082385	C	T	152082385	3	4	90	1	0	0	0	0	1	0	0	0	15760	768	27	1	2527	1	TCHH	1	152082385	Missense_Mutation	SNP	C	TCGA-DU-6402-01A-11D-1705-08	2224207	152082385	97168236	4	19609											
CD1E	913	broad.mit.edu	37	1	158324220	158324220	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6402-01A-11D-1705-08	TCGA-DU-6402-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896ec7d7-5443-49bb-969b-7b483e9b518c	3bc825bc-5589-4e0b-b380-38fceee3231b	g.chr1:158324220C>T	ENST00000368160.3	+	2	112	c.112C>T	c.(112-114)Cgc>Tgc	p.R38C	CD1E_ENST00000368167.3_Missense_Mutation_p.R38C|CD1E_ENST00000368157.1_Intron|CD1E_ENST00000452291.2_Intron|CD1E_ENST00000368155.3_Missense_Mutation_p.R38C|CD1E_ENST00000368163.3_Missense_Mutation_p.R38C|CD1E_ENST00000464822.1_Intron|CD1E_ENST00000434258.1_Missense_Mutation_p.R36C|CD1E_ENST00000368164.3_Intron|CD1E_ENST00000368166.3_Intron|CD1E_ENST00000368154.1_Intron|CD1E_ENST00000444681.2_Intron|CD1E_ENST00000368156.1_Missense_Mutation_p.R38C|CD1E_ENST00000368161.3_Missense_Mutation_p.R38C|CD1E_ENST00000368165.3_Missense_Mutation_p.R38C	NM_001042583.2	NP_001036048.1	P15812	CD1E_HUMAN	CD1e molecule	38					antigen processing and presentation|immune response	early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen		p.R38C(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					GCTGTCCTTCCGCATGCTCCA	0.542													27	86					0	0	0.108266	0	0	T	158324220	C	T	158324220	3	4	90	1	0	0	0	0	1	0	0	0	3000	652	23	1	118	1	CD1E	1	158324220	Missense_Mutation	SNP	C	TCGA-DU-6402-01A-11D-1705-08	6241835	158324220	90926401	5	19610											
RYR2	6262	broad.mit.edu	37	1	237777663	237777663	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6402-01A-11D-1705-08	TCGA-DU-6402-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896ec7d7-5443-49bb-969b-7b483e9b518c	3bc825bc-5589-4e0b-b380-38fceee3231b	g.chr1:237777663A>T	ENST00000366574.2	+	37	5552	c.5235A>T	c.(5233-5235)aaA>aaT	p.K1745N	RYR2_ENST00000542537.1_Missense_Mutation_p.K1729N|RYR2_ENST00000360064.6_Missense_Mutation_p.K1743N	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1745	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AGAACAAAAAACACGGCCTTC	0.517													10	19					0	0	0.080935	0	0	T	237777663	A	T	237777663	3	4	90	1	0	0	0	0	1	0	0	0	13821	40	2	5	5381	5	RYR2	1	237777663	Missense_Mutation	SNP	A	TCGA-DU-6402-01A-11D-1705-08	79453443	237777663	11472958	6	19611											
PDIA6	10130	broad.mit.edu	37	2	10929977	10929977	+	Silent	SNP	G	G	A			TCGA-DU-6402-01A-11D-1705-08	TCGA-DU-6402-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896ec7d7-5443-49bb-969b-7b483e9b518c	3bc825bc-5589-4e0b-b380-38fceee3231b	g.chr2:10929977G>A	ENST00000404371.2	-	10	1231	c.894C>T	c.(892-894)ggC>ggT	p.G298G	PDIA6_ENST00000272227.3_Silent_p.G246G|PDIA6_ENST00000404824.2_Silent_p.G294G|PDIA6_ENST00000540494.1_Silent_p.G243G|PDIA6_ENST00000381611.4_Silent_p.G251G	NM_001282704.1	NP_001269633.1	Q15084	PDIA6_HUMAN	protein disulfide isomerase family A, member 6	246					cell redox homeostasis|glycerol ether metabolic process|protein folding	endoplasmic reticulum lumen|ER-Golgi intermediate compartment|melanosome|plasma membrane	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|prostate(2)	18	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.149)|OV - Ovarian serous cystadenocarcinoma(76;0.15)		CAGGAGACTCGCCTTTCTGAA	0.423													21	54					0	0	0.069288	0	0	A	10929977	G	A	10929977	2	1	90	1	0	0	0	0	0	0	0	1	11719	1074	38	1		1	PDIA6	2	10929977	Silent	SNP	G	TCGA-DU-6402-01A-11D-1705-08		10929977	232269396	7	19612											
KCNS3	3790	broad.mit.edu	37	2	18113581	18113581	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6402-01A-11D-1705-08	TCGA-DU-6402-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896ec7d7-5443-49bb-969b-7b483e9b518c	3bc825bc-5589-4e0b-b380-38fceee3231b	g.chr2:18113581C>A	ENST00000403915.1	+	3	1757	c.1306C>A	c.(1306-1308)Cct>Act	p.P436T	KCNS3_ENST00000304101.4_Missense_Mutation_p.P436T|KCNS3_ENST00000465292.1_Intron	NM_001282428.1	NP_001269357.1	Q9BQ31	KCNS3_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 3	436					energy reserve metabolic process|regulation of insulin secretion	Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium channel regulator activity			endometrium(5)|kidney(1)|large_intestine(7)|lung(11)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TCATGAGCTACCTTACTTTAA	0.453													32	61					5.09552e-08	5.51433e-08	0.153744	1	0	A	18113581	C	A	18113581	3	1	90	1	0	0	0	0	1	0	0	0	8134	507	18	5	1308	5	KCNS3	2	18113581	Missense_Mutation	SNP	C	TCGA-DU-6402-01A-11D-1705-08	7183604	18113581	225085792	8	19613											
COBLL1	22837	broad.mit.edu	37	2	165578649	165578649	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6402-01A-11D-1705-08	TCGA-DU-6402-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896ec7d7-5443-49bb-969b-7b483e9b518c	3bc825bc-5589-4e0b-b380-38fceee3231b	g.chr2:165578649G>T	ENST00000375458.2	-	6	1153	c.932C>A	c.(931-933)gCa>gAa	p.A311E	COBLL1_ENST00000194871.6_Missense_Mutation_p.A377E|COBLL1_ENST00000491126.2_Intron|COBLL1_ENST00000342193.4_Missense_Mutation_p.A311E|COBLL1_ENST00000392717.2_Missense_Mutation_p.A349E|COBLL1_ENST00000409184.3_Missense_Mutation_p.A349E	NM_001278460.1|NM_001278461.1	NP_001265389.1|NP_001265390.1	Q53SF7	COBL1_HUMAN	cordon-bleu WH2 repeat protein-like 1	349										central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	47						CTGGATGTGTGCAAGGTCTTG	0.488													21	57					2.37509e-13	2.64271e-13	0.219247	1	0	T	165578649	G	T	165578649	3	4	90	1	0	0	0	0	1	0	0	0	3677	1319	46	5	2604	5	COBLL1	2	165578649	Missense_Mutation	SNP	G	TCGA-DU-6402-01A-11D-1705-08	147465068	165578649	77620724	9	19614											
SPHKAP	80309	broad.mit.edu	37	2	228890206	228890206	+	Silent	SNP	G	G	A			TCGA-DU-6402-01A-11D-1705-08	TCGA-DU-6402-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896ec7d7-5443-49bb-969b-7b483e9b518c	3bc825bc-5589-4e0b-b380-38fceee3231b	g.chr2:228890206G>A	ENST00000392056.3	-	5	391	c.345C>T	c.(343-345)atC>atT	p.I115I	SPHKAP_ENST00000344657.5_Silent_p.I115I	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	115						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		TCATGGAACTGATAAGTTTTG	0.363													5	96					0	0	0.217242	0	0	A	228890206	G	A	228890206	2	1	90	1	0	0	0	0	0	0	0	1	15104	1280	45	2		2	SPHKAP	2	228890206	Silent	SNP	G	TCGA-DU-6402-01A-11D-1705-08	63311557	228890206	14309167	10	19615											
B3GNT7	93010	broad.mit.edu	37	2	232263412	232263412	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6402-01A-11D-1705-08	TCGA-DU-6402-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896ec7d7-5443-49bb-969b-7b483e9b518c	3bc825bc-5589-4e0b-b380-38fceee3231b	g.chr2:232263412G>A	ENST00000287590.5	+	2	1243	c.982G>A	c.(982-984)Gtc>Atc	p.V328I		NM_145236.2	NP_660279.1	Q8NFL0	B3GN7_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 7	328					protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity			endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(1)	17		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232)		Epithelial(121;3.22e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0139)		GATCGACGACGTCTTTCTGGG	0.672													16	34					0	0	0.146539	0	0	A	232263412	G	A	232263412	3	1	90	1	0	0	0	0	1	0	0	0	1260	1145	40	1	988	1	B3GNT7	2	232263412	Missense_Mutation	SNP	G	TCGA-DU-6402-01A-11D-1705-08	3373206	232263412	10935961	11	19616											
GIGYF2	26058	broad.mit.edu	37	2	233681681	233681681	+	Missense_Mutation	SNP	G	G	A	rs149585458		TCGA-DU-6402-01A-11D-1705-08	TCGA-DU-6402-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896ec7d7-5443-49bb-969b-7b483e9b518c	3bc825bc-5589-4e0b-b380-38fceee3231b	g.chr2:233681681G>A	ENST00000373566.3	+	21	2572	c.2375G>A	c.(2374-2376)cGg>cAg	p.R792Q	GIGYF2_ENST00000409196.3_Missense_Mutation_p.R764Q|GIGYF2_ENST00000409480.1_Missense_Mutation_p.R792Q|GIGYF2_ENST00000452341.2_Missense_Mutation_p.R601Q|GIGYF2_ENST00000373563.4_Missense_Mutation_p.R770Q|GIGYF2_ENST00000409547.1_Missense_Mutation_p.R770Q|GIGYF2_ENST00000409451.3_Missense_Mutation_p.R791Q			Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	770	Gln-rich.|Glu-rich.			E -> G (in Ref. 5; CAD98095).	cell death		protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		GAAATTCTTCGGCGACAGCAG	0.488													65	105					0	0	0.139131	0	0	A	233681681	G	A	233681681	3	1	90	1	0	0	0	0	1	0	0	0	6420	1116	39	1	2449	1	GIGYF2	2	233681681	Missense_Mutation	SNP	G	TCGA-DU-6402-01A-11D-1705-08	1418269	233681681	9517692	12	19617											
HTR3C	170572	broad.mit.edu	37	3	183774718	183774718	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6402-01A-11D-1705-08	TCGA-DU-6402-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896ec7d7-5443-49bb-969b-7b483e9b518c	3bc825bc-5589-4e0b-b380-38fceee3231b	g.chr3:183774718C>T	ENST00000318351.1	+	5	479	c.445C>T	c.(445-447)Cga>Tga	p.R149*		NM_130770.2	NP_570126.2	Q8WXA8	5HT3C_HUMAN	5-hydroxytryptamine (serotonin) receptor 3C, ionotropic	149						integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity	p.R149*(1)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(2)	32	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			CAGTGAAGGTCGAATTAAGTA	0.478													37	100					0	0	0.246493	0	0	T	183774718	C	T	183774718	4	4	90	1	0	0	0	0	0	1	0	0	7490	876	31	1	463	1	HTR3C	3	183774718	Nonsense_Mutation	SNP	C	TCGA-DU-6402-01A-11D-1705-08		183774718	14247712	13	19618											
CLCN2	1181	broad.mit.edu	37	3	184075764	184075764	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6402-01A-11D-1705-08	TCGA-DU-6402-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896ec7d7-5443-49bb-969b-7b483e9b518c	3bc825bc-5589-4e0b-b380-38fceee3231b	g.chr3:184075764G>A	ENST00000265593.4	-	5	772	c.601C>T	c.(601-603)Ccg>Tcg	p.P201S	CLCN2_ENST00000457512.1_Missense_Mutation_p.P201S|CLCN2_ENST00000423355.2_5'UTR|EIF2B5_ENST00000444495.1_Intron|CLCN2_ENST00000344937.7_Missense_Mutation_p.P201S|CLCN2_ENST00000434054.2_Missense_Mutation_p.P157S	NM_004366.5	NP_004357.3	P51788	CLCN2_HUMAN	chloride channel, voltage-sensitive 2	201						chloride channel complex	voltage-gated chloride channel activity			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Lubiprostone(DB01046)	TTGCCAAGCGGCATCCCGCTG	0.597													3	43					0	0	0.150653	0	0	A	184075764	G	A	184075764	3	1	90	1	0	0	0	0	1	0	0	0	3486	1203	42	2	2175	2	CLCN2	3	184075764	Missense_Mutation	SNP	G	TCGA-DU-6402-01A-11D-1705-08	301046	184075764	13946666	14	19619											
PROM1	8842	broad.mit.edu	37	4	15991422	15991422	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6402-01A-11D-1705-08	TCGA-DU-6402-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896ec7d7-5443-49bb-969b-7b483e9b518c	3bc825bc-5589-4e0b-b380-38fceee3231b	g.chr4:15991422A>G	ENST00000505450.1	-	18	2594	c.1982T>C	c.(1981-1983)cTg>cCg	p.L661P	PROM1_ENST00000543373.1_Missense_Mutation_p.L661P|PROM1_ENST00000508167.1_Missense_Mutation_p.L661P|PROM1_ENST00000447510.2_Missense_Mutation_p.L670P|PROM1_ENST00000539194.1_Missense_Mutation_p.L670P|PROM1_ENST00000540805.1_Missense_Mutation_p.L670P|PROM1_ENST00000510224.1_Missense_Mutation_p.L670P	NM_001145848.1	NP_001139320.1	O43490	PROM1_HUMAN	prominin 1	670					camera-type eye photoreceptor cell differentiation|photoreceptor cell maintenance|retina layer formation	apical plasma membrane|cell surface|integral to plasma membrane|microvillus membrane|photoreceptor outer segment membrane|plasma membrane	beta-actinin binding|cadherin binding			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|liver(1)|lung(11)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(2)	35						ATCTCTTTTCAGGGAGTTCCT	0.413													4	5					0	0	0.217242	0	0	G	15991422	A	G	15991422	3	3	90	1	0	0	0	0	1	0	0	0	12607	188	7	3	624	3	PROM1	4	15991422	Missense_Mutation	SNP	A	TCGA-DU-6402-01A-11D-1705-08		15991422	175162854	15	19620											
CCKAR	886	broad.mit.edu	37	4	26483467	26483467	+	Silent	SNP	G	G	A	rs150897748		TCGA-DU-6402-01A-11D-1705-08	TCGA-DU-6402-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896ec7d7-5443-49bb-969b-7b483e9b518c	3bc825bc-5589-4e0b-b380-38fceee3231b	g.chr4:26483467G>A	ENST00000295589.3	-	5	1274	c.1080C>T	c.(1078-1080)taC>taT	p.Y360Y		NM_000730.2	NP_000721.1	P32238	CCKAR_HUMAN	cholecystokinin A receptor	360					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration|response to nutrient	integral to plasma membrane	cholecystokinin receptor activity			NS(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|pancreas(1)|skin(1)	29		Breast(46;0.0503)			Ceruletide(DB00403)	AGGAGGAGGTGTAGGACAGGA	0.627													20	81					0	0	0.204396	0	0	A	26483467	G	A	26483467	2	1	90	1	0	0	0	0	0	0	0	1	2900	1372	48	2		2	CCKAR	4	26483467	Silent	SNP	G	TCGA-DU-6402-01A-11D-1705-08	10492045	26483467	164670809	16	19621											
UGT2B17	7367	broad.mit.edu	37	4	69434170	69434170	+	Silent	SNP	C	C	T			TCGA-DU-6402-01A-11D-1705-08	TCGA-DU-6402-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896ec7d7-5443-49bb-969b-7b483e9b518c	3bc825bc-5589-4e0b-b380-38fceee3231b	g.chr4:69434170C>T	ENST00000317746.2	-	1	75	c.33G>A	c.(31-33)ctG>ctA	p.L11L		NM_001077.3	NP_001068.1	O75795	UDB17_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B17	11					steroid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(14)|ovary(2)|prostate(1)	30						TGAGCTGCATCAGCAGAAAGA	0.423													43	288					0	0	0.139131	0	0	T	69434170	C	T	69434170	2	4	90	1	0	0	0	0	0	0	0	1	17019	813	29	2		2	UGT2B17	4	69434170	Silent	SNP	C	TCGA-DU-6402-01A-11D-1705-08	42950703	69434170	121720106	17	19622											
PPEF2	5470	broad.mit.edu	37	4	76812812	76812812	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6402-01A-11D-1705-08	TCGA-DU-6402-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896ec7d7-5443-49bb-969b-7b483e9b518c	3bc825bc-5589-4e0b-b380-38fceee3231b	g.chr4:76812812C>T	ENST00000286719.7	-	4	586	c.230G>A	c.(229-231)aGc>aAc	p.S77N		NM_006239.2	NP_006230.2	O14830	PPE2_HUMAN	protein phosphatase, EF-hand calcium binding domain 2	77					detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception	cytoplasm|photoreceptor inner segment|photoreceptor outer segment	calcium ion binding|Hsp70 protein binding|Hsp90 protein binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	50			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			GTCGTTGTGGCTGCTGGGGAT	0.522													85	173					0	0	0.139131	0	0	T	76812812	C	T	76812812	3	4	90	1	0	0	0	0	1	0	0	0	12353	797	28	2	2087	2	PPEF2	4	76812812	Missense_Mutation	SNP	C	TCGA-DU-6402-01A-11D-1705-08	7378642	76812812	114341464	18	19623											
FAT4	79633	broad.mit.edu	37	4	126239159	126239159	+	Silent	SNP	C	C	T			TCGA-DU-6402-01A-11D-1705-08	TCGA-DU-6402-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896ec7d7-5443-49bb-969b-7b483e9b518c	3bc825bc-5589-4e0b-b380-38fceee3231b	g.chr4:126239159C>T	ENST00000394329.3	+	1	1606	c.1593C>T	c.(1591-1593)ctC>ctT	p.L531L		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	531	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						ATAGCGGCCTCGTGACCACTG	0.547											OREG0016317	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	29					0	0	0.132662	0	0	T	126239159	C	T	126239159	2	4	90	1	0	0	0	0	0	0	0	1	5725	871	31	1		1	FAT4	4	126239159	Silent	SNP	C	TCGA-DU-6402-01A-11D-1705-08	49426347	126239159	64915117	19	19624											
MARCH11	441061	broad.mit.edu	37	5	16067657	16067657	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6402-01A-11D-1705-08	TCGA-DU-6402-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896ec7d7-5443-49bb-969b-7b483e9b518c	3bc825bc-5589-4e0b-b380-38fceee3231b	g.chr5:16067657T>C	ENST00000332432.8	-	4	1331	c.1132A>G	c.(1132-1134)Aat>Gat	p.N378D		NM_001102562.1	NP_001096032.1	A6NNE9	MARHB_HUMAN	membrane-associated ring finger (C3HC4) 11	378						cytoplasmic vesicle membrane|integral to membrane	ligase activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)|urinary_tract(1)	20						CTCATCCGATTGAACAGGTGC	0.478													41	116					0	0	0.11126	0	0	C	16067657	T	C	16067657	3	2	90	1	0	0	0	0	1	0	0	0	9350	1812	63	3	80	3	MARCH11	5	16067657	Missense_Mutation	SNP	T	TCGA-DU-6402-01A-11D-1705-08		16067657	164847603	20	19625											
PCDHA2	56146	broad.mit.edu	37	5	140176070	140176070	+	Silent	SNP	C	C	T			TCGA-DU-6402-01A-11D-1705-08	TCGA-DU-6402-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896ec7d7-5443-49bb-969b-7b483e9b518c	3bc825bc-5589-4e0b-b380-38fceee3231b	g.chr5:140176070C>T	ENST00000526136.1	+	1	1521	c.1521C>T	c.(1519-1521)taC>taT	p.Y507Y	PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000378132.1_Silent_p.Y507Y|PCDHA2_ENST00000520672.2_Silent_p.Y507Y|PCDHA1_ENST00000504120.2_Intron	NM_018905.2	NP_061728.1														NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTCGAGCTACGTTTCGGTGC	0.682													11	38					0	0	0.132662	0	0	T	140176070	C	T	140176070	2	4	90	1	0	0	0	0	0	0	0	1	11571	547	19	1		1	PCDHA2	5	140176070	Silent	SNP	C	TCGA-DU-6402-01A-11D-1705-08	124108413	140176070	40739190	21	19626											
PCDHB2	56133	broad.mit.edu	37	5	140475880	140475880	+	Silent	SNP	C	C	T			TCGA-DU-6402-01A-11D-1705-08	TCGA-DU-6402-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896ec7d7-5443-49bb-969b-7b483e9b518c	3bc825bc-5589-4e0b-b380-38fceee3231b	g.chr5:140475880C>T	ENST00000194155.4	+	1	1654	c.1506C>T	c.(1504-1506)ctC>ctT	p.L502L		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN		502	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACCTGCCCCTCGCCTCCCTGG	0.692													13	89					0	0	0.132662	0	0	T	140475880	C	T	140475880	2	4	90	1	0	0	0	0	0	0	0	1	11589	871	31	1		1	PCDHB2	5	140475880	Silent	SNP	C	TCGA-DU-6402-01A-11D-1705-08	299810	140475880	40439380	22	19627											
PKHD1	5314	broad.mit.edu	37	6	51882309	51882309	+	Silent	SNP	C	C	T			TCGA-DU-6402-01A-11D-1705-08	TCGA-DU-6402-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896ec7d7-5443-49bb-969b-7b483e9b518c	3bc825bc-5589-4e0b-b380-38fceee3231b	g.chr6:51882309C>T	ENST00000371117.3	-	34	5774	c.5499G>A	c.(5497-5499)tcG>tcA	p.S1833S	PKHD1_ENST00000340994.4_Silent_p.S1833S	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	1833			S -> L (in ARPKD).		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)					GGTAAGGCCACGATTCAAGCA	0.512													25	105					0	0	0.0918	0	0	T	51882309	C	T	51882309	2	4	90	1	0	0	0	0	0	0	0	1	12019	523	19	1		1	PKHD1	6	51882309	Silent	SNP	C	TCGA-DU-6402-01A-11D-1705-08		51882309	119232758	23	19628											
DDC	1644	broad.mit.edu	37	7	50611629	50611629	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6402-01A-11D-1705-08	TCGA-DU-6402-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896ec7d7-5443-49bb-969b-7b483e9b518c	3bc825bc-5589-4e0b-b380-38fceee3231b	g.chr7:50611629G>A	ENST00000444124.2	-	2	355	c.155C>T	c.(154-156)aCg>aTg	p.T52M	DDC_ENST00000357936.5_Missense_Mutation_p.T52M|DDC_ENST00000431062.1_Missense_Mutation_p.T52M|DDC_ENST00000426377.1_Missense_Mutation_p.T52M|DDC_ENST00000380984.4_Missense_Mutation_p.T52M	NM_001082971.1	NP_001076440	P20711	DDC_HUMAN	dopa decarboxylase (aromatic L-amino acid decarboxylase)	52					cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion	cytosol	aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1)	40	Glioma(55;0.08)|all_neural(89;0.245)				Amantadine(DB00915)|Carbidopa(DB00190)|Flupenthixol(DB00875)|L-Tryptophan(DB00150)|Levodopa(DB01235)|Pimozide(DB01100)|Pyridoxal Phosphate(DB00114)|Remoxipride(DB00409)	GTCCTCAAACGTGTCTGGCTC	0.557													37	136					0	0	0.225048	0	0	A	50611629	G	A	50611629	3	1	90	1	0	0	0	0	1	0	0	0	4348	1145	40	1	1339	1	DDC	7	50611629	Missense_Mutation	SNP	G	TCGA-DU-6402-01A-11D-1705-08		50611629	108527034	24	19629											
GRM3	2913	broad.mit.edu	37	7	86415593	86415593	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6402-01A-11D-1705-08	TCGA-DU-6402-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896ec7d7-5443-49bb-969b-7b483e9b518c	3bc825bc-5589-4e0b-b380-38fceee3231b	g.chr7:86415593G>A	ENST00000361669.2	+	3	1584	c.485G>A	c.(484-486)cGg>cAg	p.R162Q	GRM3_ENST00000439827.1_Missense_Mutation_p.R162Q|AC005009.2_ENST00000418031.1_RNA|GRM3_ENST00000394720.2_Missense_Mutation_p.R160Q|AC005009.2_ENST00000452471.1_RNA|GRM3_ENST00000536043.1_Missense_Mutation_p.R34Q|GRM3_ENST00000546348.1_Intron	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	162					synaptic transmission	integral to plasma membrane				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	AACCTGCTGCGGCTCTTCCAG	0.522													63	232					0	0	0.139131	0	0	A	86415593	G	A	86415593	3	1	90	1	0	0	0	0	1	0	0	0	6839	1116	39	1	491	1	GRM3	7	86415593	Missense_Mutation	SNP	G	TCGA-DU-6402-01A-11D-1705-08	35803964	86415593	72723070	25	19630											
SLC26A3	1811	broad.mit.edu	37	7	107423751	107423751	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6402-01A-11D-1705-08	TCGA-DU-6402-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896ec7d7-5443-49bb-969b-7b483e9b518c	3bc825bc-5589-4e0b-b380-38fceee3231b	g.chr7:107423751C>T	ENST00000340010.5	-	9	1202	c.1018G>A	c.(1018-1020)Gta>Ata	p.V340I	SLC26A3_ENST00000422236.2_Missense_Mutation_p.V305I	NM_000111.2	NP_000102.1	P40879	S26A3_HUMAN	solute carrier family 26 (anion exchanger), member 3	340					excretion	integral to membrane|membrane fraction	inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						CAATCTCCTACGGTGTTTTGG	0.418													19	77					0	0	0.204396	0	0	T	107423751	C	T	107423751	3	4	90	1	0	0	0	0	1	0	0	0	14573	536	19	1	1328	1	SLC26A3	7	107423751	Missense_Mutation	SNP	C	TCGA-DU-6402-01A-11D-1705-08	21008158	107423751	51714912	26	19631											
BRAF	673	broad.mit.edu	37	7	140453154	140453154	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6402-01A-11D-1705-08	TCGA-DU-6402-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896ec7d7-5443-49bb-969b-7b483e9b518c	3bc825bc-5589-4e0b-b380-38fceee3231b	g.chr7:140453154T>C	ENST00000288602.6	-	15	1841	c.1781A>G	c.(1780-1782)gAt>gGt	p.D594G		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	594	Protein kinase.		D -> G (in NHL).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.D594G(35)|p.D594V(3)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TAGACCAAAATCACCTATTTT	0.373		61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				21	82					0	0	0.069288	0	0	C	140453154	T	C	140453154	3	2	90	1	0	0	0	0	1	0	0	0	1498	1435	50	3	535	3	BRAF	7	140453154	Missense_Mutation	SNP	T	TCGA-DU-6402-01A-11D-1705-08	33029403	140453154	18685509	27	19632											
DAPK1	1612	broad.mit.edu	37	9	90301560	90301560	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6402-01A-11D-1705-08	TCGA-DU-6402-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896ec7d7-5443-49bb-969b-7b483e9b518c	3bc825bc-5589-4e0b-b380-38fceee3231b	g.chr9:90301560G>A	ENST00000469640.2	+	21	2694	c.2319G>A	c.(2317-2319)atG>atA	p.M773I	DAPK1_ENST00000472284.1_Missense_Mutation_p.M773I|DAPK1_ENST00000491893.1_Missense_Mutation_p.M773I|DAPK1_ENST00000408954.3_Missense_Mutation_p.M773I|DAPK1_ENST00000358077.5_Missense_Mutation_p.M773I			P53355	DAPK1_HUMAN	death-associated protein kinase 1	773					apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade	actin cytoskeleton|cytoplasm	ATP binding|calmodulin binding|protein serine/threonine kinase activity			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						CCAAAGGGATGCTGGAGGTGT	0.577									Chronic Lymphocytic Leukemia, Familial Clustering of				10	10					0	0	0.058154	0	0	A	90301560	G	A	90301560	3	1	90	1	0	0	0	0	1	0	0	0	4259	1319	46	2	2397	2	DAPK1	9	90301560	Missense_Mutation	SNP	G	TCGA-DU-6402-01A-11D-1705-08		90301560	50911871	28	19633											
PTEN	5728	broad.mit.edu	37	10	89692835	89692835	+	Missense_Mutation	SNP	G	G	T	rs57374291		TCGA-DU-6402-01A-11D-1705-08	TCGA-DU-6402-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896ec7d7-5443-49bb-969b-7b483e9b518c	3bc825bc-5589-4e0b-b380-38fceee3231b	g.chr10:89692835G>T	ENST00000371953.3	+	5	1676	c.319G>T	c.(319-321)Gat>Tat	p.D107Y		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	107	Phosphatase tensin-type.		D -> Y (in BZS and glioblastoma; loss of phosphatase activity towards Ins(1,3,4,5)P4).		activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.?(5)|p.R55fs*1(5)|p.D107Y(3)|p.Y27fs*1(2)|p.F56fs*2(1)|p.P103fs*3(1)|p.D107N(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		CTTTTGTGAAGATCTTGACCA	0.368		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			22	41					1.36565e-18	1.54123e-18	0.076483	1	0	T	89692835	G	T	89692835	3	4	90	1	0	0	0	0	1	0	0	0	12787	942	33	4	337	4	PTEN	10	89692835	Missense_Mutation	SNP	G	TCGA-DU-6402-01A-11D-1705-08		89692835	45841912	29	19634											
COPB1	1315	broad.mit.edu	37	11	14507918	14507918	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6402-01A-11D-1705-08	TCGA-DU-6402-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896ec7d7-5443-49bb-969b-7b483e9b518c	3bc825bc-5589-4e0b-b380-38fceee3231b	g.chr11:14507918T>C	ENST00000249923.3	-	7	1132	c.832A>G	c.(832-834)Atc>Gtc	p.I278V	COPB1_ENST00000439561.2_Missense_Mutation_p.I278V	NM_016451.4	NP_057535.1	P53618	COPB_HUMAN	coatomer protein complex, subunit beta 1	278					COPI coating of Golgi vesicle|interspecies interaction between organisms|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|ER-Golgi intermediate compartment|plasma membrane	protein binding|structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	36						AGTACCTTGATTGCAGTTGGT	0.383													5	158					0	0	0.217242	0	0	C	14507918	T	C	14507918	3	2	90	1	0	0	0	0	1	0	0	0	3751	1493	52	3	2093	3	COPB1	11	14507918	Missense_Mutation	SNP	T	TCGA-DU-6402-01A-11D-1705-08		14507918	120498598	30	19635											
MS4A6E	245802	broad.mit.edu	37	11	60107365	60107365	+	Silent	SNP	T	T	A			TCGA-DU-6402-01A-11D-1705-08	TCGA-DU-6402-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896ec7d7-5443-49bb-969b-7b483e9b518c	3bc825bc-5589-4e0b-b380-38fceee3231b	g.chr11:60107365T>A	ENST00000300182.4	+	3	446	c.381T>A	c.(379-381)tcT>tcA	p.S127S		NM_139249.2	NP_640342.1	Q96DS6	M4A6E_HUMAN	membrane-spanning 4-domains, subfamily A, member 6E	127						integral to membrane	receptor activity			endometrium(2)|kidney(1)|lung(9)|stomach(1)	13						TGCTGGTTTCTACTGTGTTGG	0.493													68	175					0	0	0.139131	0	0	A	60107365	T	A	60107365	2	1	90	1	0	0	0	0	0	0	0	1	9914	1509	53	5		5	MS4A6E	11	60107365	Silent	SNP	T	TCGA-DU-6402-01A-11D-1705-08	45599447	60107365	74899151	31	19636											
EXPH5	23086	broad.mit.edu	37	11	108381685	108381685	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6402-01A-11D-1705-08	TCGA-DU-6402-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896ec7d7-5443-49bb-969b-7b483e9b518c	3bc825bc-5589-4e0b-b380-38fceee3231b	g.chr11:108381685G>T	ENST00000265843.4	-	6	4659	c.4549C>A	c.(4549-4551)Cta>Ata	p.L1517I	EXPH5_ENST00000443411.1_Missense_Mutation_p.L1329I|EXPH5_ENST00000428840.1_Missense_Mutation_p.L1441I|EXPH5_ENST00000525344.1_Missense_Mutation_p.L1510I	NM_015065.2	NP_055880	Q149M6	Q149M6_HUMAN	exophilin 5	1517					intracellular protein transport		Rab GTPase binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		CCAAGCTGTAGTTTATGCAAT	0.433													8	27					1.26484e-09	1.38782e-09	0.038147	1	0	T	108381685	G	T	108381685	3	4	90	1	0	0	0	0	1	0	0	0	5350	1020	36	4	1424	4	EXPH5	11	108381685	Missense_Mutation	SNP	G	TCGA-DU-6402-01A-11D-1705-08	48274320	108381685	26624831	32	19637											
EXPH5	23086	broad.mit.edu	37	11	108382533	108382533	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-6402-01A-11D-1705-08	TCGA-DU-6402-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896ec7d7-5443-49bb-969b-7b483e9b518c	3bc825bc-5589-4e0b-b380-38fceee3231b	g.chr11:108382533G>C	ENST00000265843.4	-	6	3811	c.3701C>G	c.(3700-3702)aCg>aGg	p.T1234R	EXPH5_ENST00000443411.1_Missense_Mutation_p.T1046R|EXPH5_ENST00000428840.1_Missense_Mutation_p.T1158R|EXPH5_ENST00000525344.1_Missense_Mutation_p.T1227R	NM_015065.2	NP_055880	Q149M6	Q149M6_HUMAN	exophilin 5	1234					intracellular protein transport		Rab GTPase binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		AACAGAAAACGTACTAGTCGT	0.373													24	86					0	0	0.083992	0	0	C	108382533	G	C	108382533	3	2	90	1	0	0	0	0	1	0	0	0	5350	1145	40	5	2272	5	EXPH5	11	108382533	Missense_Mutation	SNP	G	TCGA-DU-6402-01A-11D-1705-08	848	108382533	26623983	33	19638											
CLEC12A	160364	broad.mit.edu	37	12	10124176	10124176	+	Splice_Site	SNP	A	A	G			TCGA-DU-6402-01A-11D-1705-08	TCGA-DU-6402-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896ec7d7-5443-49bb-969b-7b483e9b518c	3bc825bc-5589-4e0b-b380-38fceee3231b	g.chr12:10124176A>G	ENST00000355690.4	+	2	42	c.11A>G	c.(10-12)gAt>gGt	p.D4G	CLEC12A_ENST00000304361.4_5'UTR|CLEC12A_ENST00000434319.2_5'UTR	NM_001207010.1	NP_001193939.1	Q5QGZ9	CL12A_HUMAN	C-type lectin domain family 12, member A	0						integral to membrane|plasma membrane	receptor activity|sugar binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	16						CTTTGTCAAGATTTCTTTACA	0.318													18	31					0	0	0.204396	0	0	G	10124176	A	G	10124176	5	3	90	1	0	0	0	0	0	0	1	0	3520	348	12	3		3	CLEC12A	12	10124176	Splice_Site	SNP	A	TCGA-DU-6402-01A-11D-1705-08		10124176	123727719	34	19639											
CPNE8	144402	broad.mit.edu	37	12	39087538	39087538	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6402-01A-11D-1705-08	TCGA-DU-6402-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896ec7d7-5443-49bb-969b-7b483e9b518c	3bc825bc-5589-4e0b-b380-38fceee3231b	g.chr12:39087538T>C	ENST00000331366.5	-	15	1160	c.1064A>G	c.(1063-1065)gAc>gGc	p.D355G	CPNE8_ENST00000538596.2_Missense_Mutation_p.D24G|CPNE8_ENST00000360449.3_Missense_Mutation_p.D343G	NM_153634.2	NP_705898.1	Q86YQ8	CPNE8_HUMAN	copine VIII	355	VWFA.									NS(1)|breast(1)|endometrium(1)|large_intestine(6)|lung(6)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	21	Esophageal squamous(101;0.187)	Lung NSC(34;0.137)|Melanoma(24;0.152)|all_lung(34;0.157)				TTTATCACTGTCATAATCTTG	0.418													3	112					0	0	0.115264	0	0	C	39087538	T	C	39087538	3	2	90	1	0	0	0	0	1	0	0	0	3841	1667	58	3	654	3	CPNE8	12	39087538	Missense_Mutation	SNP	T	TCGA-DU-6402-01A-11D-1705-08	28963362	39087538	94764357	35	19640											
ORMDL2	29095	broad.mit.edu	37	12	56213247	56213247	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6402-01A-11D-1705-08	TCGA-DU-6402-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896ec7d7-5443-49bb-969b-7b483e9b518c	3bc825bc-5589-4e0b-b380-38fceee3231b	g.chr12:56213247G>A	ENST00000243045.5	+	3	491	c.296G>A	c.(295-297)cGc>cAc	p.R99H	ORMDL2_ENST00000550836.1_Missense_Mutation_p.R11H|RP11-762I7.5_ENST00000546837.1_Intron|ORMDL2_ENST00000548974.1_Missense_Mutation_p.R99H|ORMDL2_ENST00000552672.1_Missense_Mutation_p.R65H|RP11-762I7.5_ENST00000552719.1_Intron	NM_014182.4	NP_054901.1	Q53FV1	ORML2_HUMAN	ORM1-like 2 (S. cerevisiae)	99					ceramide metabolic process	endoplasmic reticulum membrane|integral to membrane				kidney(1)|lung(3)	4						ACCTCTTCCCGCAAGTTCCTC	0.512													5	136					0	0	0.02938	0	0	A	56213247	G	A	56213247	3	1	90	1	0	0	0	0	1	0	0	0	11317	1087	38	1	302	1	ORMDL2	12	56213247	Missense_Mutation	SNP	G	TCGA-DU-6402-01A-11D-1705-08	17125709	56213247	77638648	36	19641											
FZD10	11211	broad.mit.edu	37	12	130648631	130648631	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6402-01A-11D-1705-08	TCGA-DU-6402-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896ec7d7-5443-49bb-969b-7b483e9b518c	3bc825bc-5589-4e0b-b380-38fceee3231b	g.chr12:130648631G>A	ENST00000539839.1	+	1	1628	c.1046G>A	c.(1045-1047)cGg>cAg	p.R349Q	FZD10_ENST00000229030.4_Missense_Mutation_p.G382R	NM_007197.3	NP_009128.1	Q9ULW2	FZD10_HUMAN	frizzled family receptor 10	0					brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development	cell projection|cell surface|cytoplasm|integral to plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1)	35	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)		CGAGCTCACCGGGGTCTGCTA	0.647													18	37					0	0	0.189662	0	0	A	130648631	G	A	130648631	3	1	90	1	0	0	0	0	1	0	0	0	6164	1116	39	1	1146	1	FZD10	12	130648631	Missense_Mutation	SNP	G	TCGA-DU-6402-01A-11D-1705-08	74435384	130648631	3203264	37	19642											
RPL10L	140801	broad.mit.edu	37	14	47120403	47120403	+	Silent	SNP	G	G	A			TCGA-DU-6402-01A-11D-1705-08	TCGA-DU-6402-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896ec7d7-5443-49bb-969b-7b483e9b518c	3bc825bc-5589-4e0b-b380-38fceee3231b	g.chr14:47120403G>A	ENST00000298283.3	-	1	625	c.537C>T	c.(535-537)gaC>gaT	p.D179D		NM_080746.2	NP_542784.1	Q96L21	RL10L_HUMAN	ribosomal protein L10-like	179					spermatogenesis|translation	cytosolic large ribosomal subunit|nucleus	structural constituent of ribosome			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(20)|ovary(1)	27						CTTCAAATTCGTCAGCATTAA	0.517													25	73					0	0	0.108266	0	0	A	47120403	G	A	47120403	2	1	90	1	0	0	0	0	0	0	0	1	13608	1136	40	1		1	RPL10L	14	47120403	Silent	SNP	G	TCGA-DU-6402-01A-11D-1705-08		47120403	60229137	38	19643											
HCN4	10021	broad.mit.edu	37	15	73615765	73615765	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6402-01A-11D-1705-08	TCGA-DU-6402-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896ec7d7-5443-49bb-969b-7b483e9b518c	3bc825bc-5589-4e0b-b380-38fceee3231b	g.chr15:73615765G>A	ENST00000261917.3	-	8	3662	c.2669C>T	c.(2668-2670)cCc>cTc	p.P890L		NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 4	890					blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		GGGAGCCGAGGGGGAGCCACA	0.672													5	7					0	0	0.184627	0	0	A	73615765	G	A	73615765	3	1	90	1	0	0	0	0	1	0	0	0	7040	1232	43	2	946	2	HCN4	15	73615765	Missense_Mutation	SNP	G	TCGA-DU-6402-01A-11D-1705-08		73615765	28915627	39	19644	102	2									
HCN4	10021	broad.mit.edu	37	15	73615766	73615766	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6402-01A-11D-1705-08	TCGA-DU-6402-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896ec7d7-5443-49bb-969b-7b483e9b518c	3bc825bc-5589-4e0b-b380-38fceee3231b	g.chr15:73615766G>A	ENST00000261917.3	-	8	3661	c.2668C>T	c.(2668-2670)Ccc>Tcc	p.P890S		NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 4	890					blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		GGAGCCGAGGGGGAGCCACAG	0.677													6	7					0	0	0.217242	0	0	A	73615766	G	A	73615766	3	1	90	1	0	0	0	0	1	0	0	0	7040	1232	43	2	947	2	HCN4	15	73615766	Missense_Mutation	SNP	G	TCGA-DU-6402-01A-11D-1705-08	1	73615766	28915626	40	19645	102	2									
ACSM2A	123876	broad.mit.edu	37	16	20476848	20476848	+	Nonsense_Mutation	SNP	C	C	T	rs146541514		TCGA-DU-6402-01A-11D-1705-08	TCGA-DU-6402-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896ec7d7-5443-49bb-969b-7b483e9b518c	3bc825bc-5589-4e0b-b380-38fceee3231b	g.chr16:20476848C>T	ENST00000573854.1	+	3	301	c.187C>T	c.(187-189)Cga>Tga	p.R63*	ACSM2A_ENST00000575558.1_3'UTR|ACSM2A_ENST00000219054.6_Nonsense_Mutation_p.R63*|ACSM2A_ENST00000424070.1_Nonsense_Mutation_p.R63*|ACSM2A_ENST00000575690.1_Nonsense_Mutation_p.R63*|ACSM2A_ENST00000396104.2_Nonsense_Mutation_p.R63*|ACSM2A_ENST00000417235.2_5'UTR|ACSM2A_ENST00000536134.1_5'UTR	NM_001010845.2	NP_001010845	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A	63					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						GGCTGGCAAGCGACTCCCAAG	0.517													6	23					0	0	0.02938	0	0	T	20476848	C	T	20476848	4	4	90	1	0	0	0	0	0	1	0	0	183	760	27	1	193	1	ACSM2A	16	20476848	Nonsense_Mutation	SNP	C	TCGA-DU-6402-01A-11D-1705-08		20476848	69877905	41	19646											
MYO15A	51168	broad.mit.edu	37	17	18053797	18053797	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6402-01A-11D-1705-08	TCGA-DU-6402-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896ec7d7-5443-49bb-969b-7b483e9b518c	3bc825bc-5589-4e0b-b380-38fceee3231b	g.chr17:18053797G>A	ENST00000205890.5	+	36	7605	c.7267G>A	c.(7267-7269)Ggt>Agt	p.G2423S		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	2423	Tail.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					AGGCCAGCCCGGTGGAGGCAG	0.617													10	37					0	0	0.080935	0	0	A	18053797	G	A	18053797	3	1	90	1	0	0	0	0	1	0	0	0	10111	1116	39	1	7401	1	MYO15A	17	18053797	Missense_Mutation	SNP	G	TCGA-DU-6402-01A-11D-1705-08		18053797	63141413	42	19647											
NF1	4763	broad.mit.edu	37	17	29548901	29548901	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DU-6402-01A-11D-1705-08	TCGA-DU-6402-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896ec7d7-5443-49bb-969b-7b483e9b518c	3bc825bc-5589-4e0b-b380-38fceee3231b	g.chr17:29548901delG	ENST00000358273.4	+	15	2058	c.1675delG	c.(1675-1677)gatfs	p.D559fs	NF1_ENST00000356175.3_Frame_Shift_Del_p.D559fs|NF1_ENST00000431387.4_Frame_Shift_Del_p.D559fs	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	559					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		AGATAGCATTGATTTGTGGAA	0.289			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			23	45	---	---	---	---						-	29548901	G	-	29548901	7	5	90	1	0	1	0	1	0	0	0	0	10403	1290	45	0	1733	0	NF1	17	29548901	Frame_Shift_Del	DEL	G	TCGA-DU-6402-01A-11D-1705-08	11495104	29548901	51646309	43	19648											
NF1	4763	broad.mit.edu	37	17	29663747	29663747	+	Nonsense_Mutation	SNP	T	T	G			TCGA-DU-6402-01A-11D-1705-08	TCGA-DU-6402-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896ec7d7-5443-49bb-969b-7b483e9b518c	3bc825bc-5589-4e0b-b380-38fceee3231b	g.chr17:29663747T>G	ENST00000358273.4	+	42	6625	c.6242T>G	c.(6241-6243)tTa>tGa	p.L2081*	NF1_ENST00000356175.3_Nonsense_Mutation_p.L2060*	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	2081					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(3)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		ATTGCTATTTTAGCACGCTAC	0.408			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			23	60					0	0	0.083992	0	0	G	29663747	T	G	29663747	4	3	90	1	0	0	0	0	0	1	0	0	10403	1764	61	5	6469	5	NF1	17	29663747	Nonsense_Mutation	SNP	T	TCGA-DU-6402-01A-11D-1705-08	114846	29663747	51531463	44	19649											
CDK12	51755	broad.mit.edu	37	17	37687042	37687042	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6402-01A-11D-1705-08	TCGA-DU-6402-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896ec7d7-5443-49bb-969b-7b483e9b518c	3bc825bc-5589-4e0b-b380-38fceee3231b	g.chr17:37687042C>A	ENST00000447079.4	+	14	3979	c.3946C>A	c.(3946-3948)Ctg>Atg	p.L1316M	CDK12_ENST00000430627.2_Missense_Mutation_p.L1307M	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	1316					mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						TCCTGGCCACCTGCCACATGA	0.582			"Mis, N, F"		serous ovarian					TCGA Ovarian(9;0.13)			4	102					0.00909568	0.00958078	0.150653	1	0	A	37687042	C	A	37687042	3	1	90	1	0	0	0	0	1	0	0	0	3150	680	24	4	4000	4	CDK12	17	37687042	Missense_Mutation	SNP	C	TCGA-DU-6402-01A-11D-1705-08	8023295	37687042	43508168	45	19650											
SDK2	54549	broad.mit.edu	37	17	71410870	71410870	+	Silent	SNP	G	G	A			TCGA-DU-6402-01A-11D-1705-08	TCGA-DU-6402-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896ec7d7-5443-49bb-969b-7b483e9b518c	3bc825bc-5589-4e0b-b380-38fceee3231b	g.chr17:71410870G>A	ENST00000392650.3	-	18	2397	c.2397C>T	c.(2395-2397)caC>caT	p.H799H	SDK2_ENST00000388726.3_Silent_p.H799H	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	799	Fibronectin type-III 3.				cell adhesion	integral to membrane		p.H799H(1)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						TGGCTTCCGCGTGCACATTGC	0.597													14	25					0	0	0.160694	0	0	A	71410870	G	A	71410870	2	1	90	1	0	0	0	0	0	0	0	1	14023	1136	40	1		1	SDK2	17	71410870	Silent	SNP	G	TCGA-DU-6402-01A-11D-1705-08	33723828	71410870	9784340	46	19651											
NEDD4L	23327	broad.mit.edu	37	18	56008358	56008358	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6402-01A-11D-1705-08	TCGA-DU-6402-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896ec7d7-5443-49bb-969b-7b483e9b518c	3bc825bc-5589-4e0b-b380-38fceee3231b	g.chr18:56008358A>G	ENST00000456986.1	+	14	1451	c.851A>G	c.(850-852)aAt>aGt	p.N284S	NEDD4L_ENST00000400345.3_Missense_Mutation_p.N405S|NEDD4L_ENST00000431212.2_Missense_Mutation_p.N284S|NEDD4L_ENST00000456173.2_Missense_Mutation_p.N264S|NEDD4L_ENST00000589054.1_Intron|NEDD4L_ENST00000356462.6_Intron|NEDD4L_ENST00000256830.9_Intron|NEDD4L_ENST00000435432.2_Missense_Mutation_p.N264S|NEDD4L_ENST00000256832.7_Missense_Mutation_p.N264S|NEDD4L_ENST00000357895.5_Missense_Mutation_p.N397S|NEDD4L_ENST00000382850.4_Missense_Mutation_p.N385S|NEDD4L_ENST00000586263.1_Missense_Mutation_p.N377S	NM_001144964.1	NP_001138436.1	Q96PU5	NED4L_HUMAN	neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase	405					cellular sodium ion homeostasis|excretion|interspecies interaction between organisms|positive regulation of endocytosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of protein catabolic process|response to metal ion|sodium ion transport|water homeostasis	cytoplasm	protein binding|sodium channel regulator activity|ubiquitin-protein ligase activity			breast(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(11)|ovary(1)|prostate(4)	37						TACTATGTCAATCATAACAAT	0.478													4	7					0	0	0.150653	0	0	G	56008358	A	G	56008358	3	3	90	1	0	0	0	0	1	0	0	0	10358	101	4	3	1296	3	NEDD4L	18	56008358	Missense_Mutation	SNP	A	TCGA-DU-6402-01A-11D-1705-08		56008358	22068890	47	19652											
CD70	970	broad.mit.edu	37	19	6590911	6590911	+	Missense_Mutation	SNP	C	C	T	rs148772362		TCGA-DU-6402-01A-11D-1705-08	TCGA-DU-6402-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896ec7d7-5443-49bb-969b-7b483e9b518c	3bc825bc-5589-4e0b-b380-38fceee3231b	g.chr19:6590911C>T	ENST00000245903.3	-	1	252	c.103G>A	c.(103-105)Gtg>Atg	p.V35M	CD70_ENST00000423145.3_Missense_Mutation_p.V35M	NM_001252.3	NP_001243.1	P32970	CD70_HUMAN	CD70 molecule	35					cell proliferation|cell-cell signaling|immune response|induction of apoptosis|signal transduction	extracellular space|integral to membrane of membrane fraction|integral to plasma membrane	cytokine activity|protease binding|tumor necrosis factor receptor binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|skin(1)	11						ATGCACACCACGAGGCAGATC	0.627													29	57					0	0	0.144211	0	0	T	6590911	C	T	6590911	3	4	90	1	0	0	0	0	1	0	0	0	3055	536	19	1	490	1	CD70	19	6590911	Missense_Mutation	SNP	C	TCGA-DU-6402-01A-11D-1705-08		6590911	52538072	48	19653											
CPAMD8	27151	broad.mit.edu	37	19	17013546	17013546	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6402-01A-11D-1705-08	TCGA-DU-6402-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896ec7d7-5443-49bb-969b-7b483e9b518c	3bc825bc-5589-4e0b-b380-38fceee3231b	g.chr19:17013546C>T	ENST00000443236.1	-	35	4770	c.4739G>A	c.(4738-4740)cGa>cAa	p.R1580Q		NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	1533						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						CCAGTCTCCTCGGGAACCCTC	0.657													6	53					0	0	0.217242	0	0	T	17013546	C	T	17013546	3	4	90	1	0	0	0	0	1	0	0	0	3818	884	31	1	1091	1	CPAMD8	19	17013546	Missense_Mutation	SNP	C	TCGA-DU-6402-01A-11D-1705-08	10422635	17013546	42115437	49	19654											
UBE2M	9040	broad.mit.edu	37	19	59068093	59068093	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6402-01A-11D-1705-08	TCGA-DU-6402-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896ec7d7-5443-49bb-969b-7b483e9b518c	3bc825bc-5589-4e0b-b380-38fceee3231b	g.chr19:59068093T>C	ENST00000253023.3	-	4	886	c.308A>G	c.(307-309)aAc>aGc	p.N103S		NM_003969.3	NP_003960.1	P61081	UBC12_HUMAN	ubiquitin-conjugating enzyme E2M	103					protein neddylation		ATP binding|NEDD8 ligase activity|protein binding|ribosomal S6-glutamic acid ligase activity|ubiquitin-protein ligase activity			large_intestine(1)|lung(2)|ovary(1)|pancreas(1)	5		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)		GAGGTCAATGTTGGGGTGATA	0.582													16	30					0	0	0.160694	0	0	C	59068093	T	C	59068093	3	2	90	1	0	0	0	0	1	0	0	0	16926	1725	60	3	255	3	UBE2M	19	59068093	Missense_Mutation	SNP	T	TCGA-DU-6402-01A-11D-1705-08	42054547	59068093	60890	50	19655											
MC3R	4159	broad.mit.edu	37	20	54824776	54824776	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6402-01A-11D-1705-08	TCGA-DU-6402-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896ec7d7-5443-49bb-969b-7b483e9b518c	3bc825bc-5589-4e0b-b380-38fceee3231b	g.chr20:54824776G>A	ENST00000243911.2	+	1	989	c.877G>A	c.(877-879)Gtc>Atc	p.V293I		NM_019888.3	NP_063941.3	P41968	MC3R_HUMAN	melanocortin 3 receptor	330					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(3)|skin(1)	26			Colorectal(105;0.202)			GTGCAACTCCGTCATCGACCC	0.552													6	129					0	0	0.02938	0	0	A	54824776	G	A	54824776	3	1	90	1	0	0	0	0	1	0	0	0	9415	1145	40	1	879	1	MC3R	20	54824776	Missense_Mutation	SNP	G	TCGA-DU-6402-01A-11D-1705-08		54824776	8200744	51	19656											
PHACTR3	116154	broad.mit.edu	37	20	58349322	58349322	+	Silent	SNP	G	G	A			TCGA-DU-6402-01A-11D-1705-08	TCGA-DU-6402-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896ec7d7-5443-49bb-969b-7b483e9b518c	3bc825bc-5589-4e0b-b380-38fceee3231b	g.chr20:58349322G>A	ENST00000371015.1	+	7	1418	c.951G>A	c.(949-951)ggG>ggA	p.G317G	PHACTR3_ENST00000355648.4_Silent_p.G276G|PHACTR3_ENST00000361300.4_Silent_p.G206G|PHACTR3_ENST00000395639.4_Silent_p.G206G|PHACTR3_ENST00000395636.2_Silent_p.G276G|PHACTR3_ENST00000541461.1_Silent_p.G276G|PHACTR3_ENST00000359926.3_Silent_p.G314G	NM_001281507.1|NM_080672.3	NP_001268436.1|NP_542403.1	Q96KR7	PHAR3_HUMAN	phosphatase and actin regulator 3	317						nuclear matrix	actin binding|protein phosphatase inhibitor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|liver(2)|lung(32)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	59	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;2.76e-09)			AAAGTAAAGGGTCTCCAAAGA	0.527													14	34					0	0	0.105934	0	0	A	58349322	G	A	58349322	2	1	90	1	0	0	0	0	0	0	0	1	11859	1248	44	2		2	PHACTR3	20	58349322	Silent	SNP	G	TCGA-DU-6402-01A-11D-1705-08	3524546	58349322	4676198	52	19657											
LRRC3	81543	broad.mit.edu	37	21	45877263	45877263	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6402-01A-11D-1705-08	TCGA-DU-6402-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896ec7d7-5443-49bb-969b-7b483e9b518c	3bc825bc-5589-4e0b-b380-38fceee3231b	g.chr21:45877263G>A	ENST00000291592.4	+	2	1053	c.736G>A	c.(736-738)Gcc>Acc	p.A246T		NM_030891.3	NP_112153.1	Q9BY71	LRRC3_HUMAN	leucine rich repeat containing 3	246						integral to membrane	protein binding			endometrium(2)|kidney(1)|lung(1)|urinary_tract(1)	5		Breast(209;0.00908)		COAD - Colon adenocarcinoma(84;0.148)|Lung(125;0.195)		TCTGCCCAGCGCCCCCGCCTC	0.652													12	28					0	0	0.11911	0	0	A	45877263	G	A	45877263	3	1	90	1	0	0	0	0	1	0	0	0	9029	1087	38	1	738	1	LRRC3	21	45877263	Missense_Mutation	SNP	G	TCGA-DU-6402-01A-11D-1705-08		45877263	2252632	53	19658											
SFI1	9814	broad.mit.edu	37	22	32013006	32013006	+	Missense_Mutation	SNP	G	G	C	rs143349198	by1000genomes	TCGA-DU-6402-01A-11D-1705-08	TCGA-DU-6402-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896ec7d7-5443-49bb-969b-7b483e9b518c	3bc825bc-5589-4e0b-b380-38fceee3231b	g.chr22:32013006G>C	ENST00000432498.1	+	30	3754	c.3361G>C	c.(3361-3363)Gaa>Caa	p.E1121Q	SFI1_ENST00000414585.1_Silent_p.L997L|SFI1_ENST00000474741.1_Intron|SFI1_ENST00000400288.2_Missense_Mutation_p.E1152Q|SFI1_ENST00000443326.1_Missense_Mutation_p.E1070Q|SFI1_ENST00000443011.1_Missense_Mutation_p.E999Q|SFI1_ENST00000400289.1_Missense_Mutation_p.E1070Q|SFI1_ENST00000540643.1_Missense_Mutation_p.E1097Q	NM_014775.3	NP_055590.2	A8K8P3	SFI1_HUMAN	Sfi1 homolog, spindle assembly associated (yeast)	1152					G2/M transition of mitotic cell cycle	centriole|cytosol				NS(2)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)	38						CCTTGAGGCTGAACTTGAGGA	0.567													16	28					0	0	0.175082	0	0	C	32013006	G	C	32013006	3	2	90	1	0	0	0	0	1	0	0	0	14210	1291	45	5	3572	5	SFI1	22	32013006	Missense_Mutation	SNP	G	TCGA-DU-6402-01A-11D-1705-08		32013006	19291560	54	19659											
DEPDC5	9681	broad.mit.edu	37	22	32302244	32302244	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6402-01A-11D-1705-08	TCGA-DU-6402-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896ec7d7-5443-49bb-969b-7b483e9b518c	3bc825bc-5589-4e0b-b380-38fceee3231b	g.chr22:32302244C>T	ENST00000266091.3	+	42	4649	c.4507C>T	c.(4507-4509)Cgg>Tgg	p.R1503W	DEPDC5_ENST00000400248.2_Missense_Mutation_p.R1494W|DEPDC5_ENST00000382105.2_3'UTR|DEPDC5_ENST00000400246.1_Silent_p.S1504S|DEPDC5_ENST00000539165.1_Missense_Mutation_p.R342W|DEPDC5_ENST00000382112.3_Missense_Mutation_p.R1516W|DEPDC5_ENST00000535622.1_Missense_Mutation_p.R1425W|DEPDC5_ENST00000400249.2_Missense_Mutation_p.R1494W|DEPDC5_ENST00000382111.2_Silent_p.S1504S			O75140	DEPD5_HUMAN	DEP domain containing 5	1494					intracellular signal transduction					breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						AGGGCAGCAGCGGCGGCGGCG	0.607													9	26					0	0	0.11911	0	0	T	32302244	C	T	32302244	3	4	90	1	0	0	0	0	1	0	0	0	4470	759	27	1	4730	1	DEPDC5	22	32302244	Missense_Mutation	SNP	C	TCGA-DU-6402-01A-11D-1705-08	289238	32302244	19002322	55	19660											
MUM1L1	139221	broad.mit.edu	37	X	105449891	105449891	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6402-01A-11D-1705-08	TCGA-DU-6402-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896ec7d7-5443-49bb-969b-7b483e9b518c	3bc825bc-5589-4e0b-b380-38fceee3231b	g.chrX:105449891G>A	ENST00000337685.2	+	5	1251	c.466G>A	c.(466-468)Gca>Aca	p.A156T	MUM1L1_ENST00000372552.1_Missense_Mutation_p.A156T|MUM1L1_ENST00000357175.2_Missense_Mutation_p.A156T	NM_152423.4	NP_689636.3	Q5H9M0	MUML1_HUMAN	melanoma associated antigen (mutated) 1-like 1	156										autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						ATGCTTGTTAGCATCTTCAGA	0.413													13	6					0	0	0.105934	0	0	A	105449891	G	A	105449891	3	1	90	1	0	0	0	0	1	0	0	0	10034	971	34	2	468	2	MUM1L1	23	105449891	Missense_Mutation	SNP	G	TCGA-DU-6402-01A-11D-1705-08		105449891	49820669	56	19661											
WDR63	126820	broad.mit.edu	37	1	85546977	85546977	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr1:85546977G>T	ENST00000294664.6	+	4	344	c.164G>T	c.(163-165)cGa>cTa	p.R55L	WDR63_ENST00000370596.1_Missense_Mutation_p.R55L|WDR63_ENST00000326813.8_Missense_Mutation_p.R55L	NM_145172.3	NP_660155.2	Q8IWG1	WDR63_HUMAN	WD repeat domain 63	55										NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)	36				all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)		TTTAACTGCCGAATAGATGAA	0.368													42	66					4.32679e-17	4.9037e-17	1	1	0	T	85546977	G	T	85546977	3	4	91	1	0	0	0	0	1	0	0	0	17374	1058	37	5	174	5	WDR63	1	85546977	Missense_Mutation	SNP	G	TCGA-DU-6403-01A-11D-1705-08		85546977	163703644	1	19662											
SPAG17	200162	broad.mit.edu	37	1	118558706	118558706	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr1:118558706A>C	ENST00000336338.5	-	29	4234	c.4169T>G	c.(4168-4170)aTa>aGa	p.I1390R		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1390						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		CCAGGTGCCTATGTGAACCTC	0.468													26	53					0	0	1	0	0	C	118558706	A	C	118558706	3	2	91	1	0	0	0	0	1	0	0	0	15035	449	16	4	2582	4	SPAG17	1	118558706	Missense_Mutation	SNP	A	TCGA-DU-6403-01A-11D-1705-08	33011729	118558706	130691915	2	19663											
HRNR	388697	broad.mit.edu	37	1	152192866	152192866	+	Silent	SNP	G	G	A			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr1:152192866G>A	ENST00000368801.2	-	3	1314	c.1239C>T	c.(1237-1239)cgC>cgT	p.R413R	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	413					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGTGTTGGCCGCGGCCTGAAG	0.632													6	20					0	0	1	0	0	A	152192866	G	A	152192866	2	1	91	1	0	0	0	0	0	0	0	1	7400	1074	38	1		1	HRNR	1	152192866	Silent	SNP	G	TCGA-DU-6403-01A-11D-1705-08	33634160	152192866	97057755	3	19664											
FLG	2312	broad.mit.edu	37	1	152279767	152279767	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr1:152279767G>A	ENST00000368799.1	-	3	7630	c.7595C>T	c.(7594-7596)tCg>tTg	p.S2532L	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2532	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ATGGTGACGCGACCCTGAGTG	0.597									Ichthyosis				103	219					0	0	1	0	0	A	152279767	G	A	152279767	3	1	91	1	0	0	0	0	1	0	0	0	5955	1059	37	1	4594	1	FLG	1	152279767	Missense_Mutation	SNP	G	TCGA-DU-6403-01A-11D-1705-08	86901	152279767	96970854	4	19665											
OR6K3	391114	broad.mit.edu	37	1	158687191	158687191	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr1:158687191T>G	ENST00000368146.1	-	1	762	c.763A>C	c.(763-765)Acc>Ccc	p.T255P	OR6K3_ENST00000368145.1_Missense_Mutation_p.T239P			Q8NGY3	OR6K3_HUMAN	olfactory receptor, family 6, subfamily K, member 3	255					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)	41	all_hematologic(112;0.0378)					CCTGCACAGGTAGAAAAAGCC	0.453													26	33					0	0	1	0	0	G	158687191	T	G	158687191	3	3	91	1	0	0	0	0	1	0	0	0	11250	1638	57	5	234	5	OR6K3	1	158687191	Missense_Mutation	SNP	T	TCGA-DU-6403-01A-11D-1705-08	6407424	158687191	90563430	5	19666											
ADAMTS4	9507	broad.mit.edu	37	1	161168155	161168156	+	Frame_Shift_Ins	INS	-	-	AG			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr1:161168155_161168156insAG	ENST00000367996.5	-	1	690_691	c.262_263insCT	c.(262-264)tttfs	p.F88fs	ADAMTS4_ENST00000367995.3_Frame_Shift_Ins_p.F88fs	NM_005099.4	NP_005090.3	O75173	ATS4_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 4						proteolysis|skeletal system development	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|protease binding|zinc ion binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(20)|ovary(4)|prostate(3)|skin(1)|urinary_tract(1)	43	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			CGTCTCCCCAAAGGCCTGCAAG	0.668													9	16	---	---	---	---						AG	161168156	-	AG	161168155	7	5	91	1	0	1	1	0	0	0	0	0	267	14	1	0	2286	0	ADAMTS4	1	161168155	Frame_Shift_Ins	INS	-	TCGA-DU-6403-01A-11D-1705-08	2480964	161168155	88082466	6	19667											
ASTN1	460	broad.mit.edu	37	1	176863937	176863937	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr1:176863937G>A	ENST00000367654.3	-	17	2936	c.2725C>T	c.(2725-2727)Cgg>Tgg	p.R909W	ASTN1_ENST00000424564.2_Missense_Mutation_p.R901W|ASTN1_ENST00000367657.3_Missense_Mutation_p.R901W|ASTN1_ENST00000361833.2_Missense_Mutation_p.R901W	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1						cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						TCTCTTTCCCGCTCCTCAGAC	0.532													55	95					0	0	1	0	0	A	176863937	G	A	176863937	3	1	91	1	0	0	0	0	1	0	0	0	1063	1086	38	1	1215	1	ASTN1	1	176863937	Missense_Mutation	SNP	G	TCGA-DU-6403-01A-11D-1705-08	15695782	176863937	72386684	7	19668											
SLC35F3	148641	broad.mit.edu	37	1	234041399	234041399	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr1:234041399G>A	ENST00000366618.3	+	2	323	c.178G>A	c.(178-180)Gtg>Atg	p.V60M		NM_173508.2	NP_775779.1	Q8IY50	S35F3_HUMAN	solute carrier family 35, member F3	0					transport	integral to membrane		p.V60L(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|urinary_tract(1)	32	Ovarian(103;0.0454)	all_cancers(173;0.145)|Prostate(94;0.0885)	OV - Ovarian serous cystadenocarcinoma(106;0.00531)			GTCGCGCTCCGTGGAGGATCT	0.642													23	39					0	0	1	0	0	A	234041399	G	A	234041399	3	1	91	1	0	0	0	0	1	0	0	0	14645	1145	40	1	184	1	SLC35F3	1	234041399	Missense_Mutation	SNP	G	TCGA-DU-6403-01A-11D-1705-08	57177462	234041399	15209222	8	19669											
AGBL5	60509	broad.mit.edu	37	2	27278054	27278054	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr2:27278054C>T	ENST00000360131.4	+	6	1000	c.841C>T	c.(841-843)Cgt>Tgt	p.R281C	AGBL5_ENST00000323064.8_Missense_Mutation_p.R281C	NM_021831.5	NP_068603.4	Q8NDL9	CBPC5_HUMAN	ATP/GTP binding protein-like 5	281					protein branching point deglutamylation|proteolysis	cytosol|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	28	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCAAACCCTCCGTCGCCTCTT	0.557													41	71					0	0	1	0	0	T	27278054	C	T	27278054	3	4	91	1	0	0	0	0	1	0	0	0	375	652	23	1	859	1	AGBL5	2	27278054	Missense_Mutation	SNP	C	TCGA-DU-6403-01A-11D-1705-08		27278054	215921319	9	19670											
LBH	81606	broad.mit.edu	37	2	30457270	30457270	+	Splice_Site	SNP	G	G	T			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr2:30457270G>T	ENST00000395323.3	+	2	234		c.e2-1		LBH_ENST00000404397.1_Splice_Site|LBH_ENST00000407930.2_Splice_Site|LBH_ENST00000406087.1_Splice_Site|LBH_ENST00000401506.1_Splice_Site|LBH_ENST00000467242.1_Splice_Site	NM_030915.3	NP_112177.2	Q53QV2	LBH_HUMAN	limb bud and heart development						multicellular organismal development|transcription, DNA-dependent	cytoplasm|nucleolus				endometrium(2)|large_intestine(1)|lung(2)	5	Acute lymphoblastic leukemia(172;0.155)					TTTCTTGGCAGCCCCGACTAT	0.542													21	42					2.21704e-12	2.38542e-12	1	1	0	T	30457270	G	T	30457270	5	4	91	1	0	0	0	0	0	0	1	0	8689	985	34	4	32	4	LBH	2	30457270	Splice_Site	SNP	G	TCGA-DU-6403-01A-11D-1705-08	3179216	30457270	212742103	10	19671											
PSME4	23198	broad.mit.edu	37	2	54123990	54123990	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr2:54123990delT	ENST00000404125.1	-	32	3694	c.3639delA	c.(3637-3639)aaafs	p.K1213fs	PSME4_ENST00000421748.2_Frame_Shift_Del_p.K357fs	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4	1213					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			TTTTTAGCTGTTTAAGGATAC	0.348													74	174	---	---	---	---						-	54123990	T	-	54123990	7	5	91	1	0	1	0	1	0	0	0	0	12758	1722	60	0	1952	0	PSME4	2	54123990	Frame_Shift_Del	DEL	T	TCGA-DU-6403-01A-11D-1705-08	23666720	54123990	189075383	11	19672											
PSD4	23550	broad.mit.edu	37	2	113950108	113950108	+	Missense_Mutation	SNP	C	C	T	rs117870995	by1000genomes	TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr2:113950108C>T	ENST00000441564.3	+	6	1865	c.1696C>T	c.(1696-1698)Cgc>Tgc	p.R566C	PSD4_ENST00000245796.6_Missense_Mutation_p.R594C			Q8NDX1	PSD4_HUMAN	pleckstrin and Sec7 domain containing 4		SEC7.				regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity	p.R594C(1)		cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CTTGGCCTCACGCCTCTATCG	0.597													23	47					0	0	1	0	0	T	113950108	C	T	113950108	3	4	91	1	0	0	0	0	1	0	0	0	12698	536	19	1	1798	1	PSD4	2	113950108	Missense_Mutation	SNP	C	TCGA-DU-6403-01A-11D-1705-08	59826118	113950108	129249265	12	19673											
PDE11A	50940	broad.mit.edu	37	2	178936632	178936632	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr2:178936632G>A	ENST00000286063.6	-	1	850	c.533C>T	c.(532-534)tCg>tTg	p.S178L	PDE11A_ENST00000358450.4_Intron	NM_016953.3	NP_058649.3	Q9HCR9	PDE11_HUMAN	phosphodiesterase 11A						platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)			ATTCACTCTCGATTCCAGCAG	0.537									Primary Pigmented Nodular Adrenocortical Disease, Familial				35	63					0	0	1	0	0	A	178936632	G	A	178936632	3	1	91	1	0	0	0	0	1	0	0	0	11678	1059	37	1	2348	1	PDE11A	2	178936632	Missense_Mutation	SNP	G	TCGA-DU-6403-01A-11D-1705-08	64986524	178936632	64262741	13	19674											
COL6A3	1293	broad.mit.edu	37	2	238277603	238277603	+	Silent	SNP	G	G	A	rs115551245	by1000genomes	TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr2:238277603G>A	ENST00000295550.4	-	10	4955	c.4503C>T	c.(4501-4503)gaC>gaT	p.D1501D	COL6A3_ENST00000472056.1_Silent_p.D894D|COL6A3_ENST00000409809.1_Silent_p.D1295D|COL6A3_ENST00000347401.3_Silent_p.D1300D|COL6A3_ENST00000353578.4_Silent_p.D1295D|COL6A3_ENST00000346358.4_Silent_p.D1301D	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1501	Nonhelical region.|VWFA 8.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GCCGTATGGCGTCCAGCACCG	0.557													17	24					0	0	1	0	0	A	238277603	G	A	238277603	2	1	91	1	0	0	0	0	0	0	0	1	3724	1136	40	1		1	COL6A3	2	238277603	Silent	SNP	G	TCGA-DU-6403-01A-11D-1705-08	59340971	238277603	4921770	14	19675											
ROBO2	6092	broad.mit.edu	37	3	77614192	77614192	+	Silent	SNP	C	C	T			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr3:77614192C>T	ENST00000461745.1	+	12	2670	c.1770C>T	c.(1768-1770)atC>atT	p.I590I	ROBO2_ENST00000332191.8_Silent_p.I590I|ROBO2_ENST00000487694.3_Silent_p.I606I	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	590	Fibronectin type-III 1.				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		CCAATACAATCTACTTATTCA	0.507													13	41					0	0	1	0	0	T	77614192	C	T	77614192	2	4	91	1	0	0	0	0	0	0	0	1	13566	903	32	2		2	ROBO2	3	77614192	Silent	SNP	C	TCGA-DU-6403-01A-11D-1705-08		77614192	120408238	15	19676											
SI	6476	broad.mit.edu	37	3	164730794	164730794	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr3:164730794T>C	ENST00000264382.3	-	34	4098	c.4036A>G	c.(4036-4038)Act>Gct	p.T1346A		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1346	Sucrase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	TCCGTTAGAGTTTTATCTATT	0.328										HNSCC(35;0.089)			23	68					0	0	1	0	0	C	164730794	T	C	164730794	3	2	91	1	0	0	0	0	1	0	0	0	14352	1725	60	3	1507	3	SI	3	164730794	Missense_Mutation	SNP	T	TCGA-DU-6403-01A-11D-1705-08	87116602	164730794	33291636	16	19677											
SENP5	205564	broad.mit.edu	37	3	196654715	196654715	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr3:196654715G>A	ENST00000323460.5	+	8	2320	c.2071G>A	c.(2071-2073)Gaa>Aaa	p.E691K	SENP5_ENST00000419026.1_Missense_Mutation_p.E181K|SENP5_ENST00000445299.2_Missense_Mutation_p.E645K	NM_152699.4	NP_689912.2	Q96HI0	SENP5_HUMAN	SUMO1/sentrin specific peptidase 5	691	Protease.				cell cycle|cell division|proteolysis	nucleolus	cysteine-type peptidase activity			NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(14)|skin(1)	32	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;3.14e-24)|all cancers(36;2.1e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.004)		AAATAGACCTGAATTTCTTCA	0.413													23	22					0	0	1	0	0	A	196654715	G	A	196654715	3	1	91	1	0	0	0	0	1	0	0	0	14103	1291	45	2	2097	2	SENP5	3	196654715	Missense_Mutation	SNP	G	TCGA-DU-6403-01A-11D-1705-08	31923921	196654715	1367715	17	19678											
TLR6	10333	broad.mit.edu	37	4	38830190	38830190	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr4:38830190G>A	ENST00000436693.2	-	2	1024	c.905C>T	c.(904-906)aCg>aTg	p.T302M	TLR6_ENST00000381950.1_Missense_Mutation_p.T302M	NM_006068.4	NP_006059.2	Q9Y2C9	TLR6_HUMAN	toll-like receptor 6	302					activation of NF-kappaB-inducing kinase activity|cellular response to diacyl bacterial lipopeptide|defense response to bacterium|detection of diacyl bacterial lipopeptide|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-6 biosynthetic process|positive regulation of JUN kinase activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	integral to plasma membrane|phagocytic vesicle membrane	lipopeptide binding|transmembrane receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TTTCAATGTCGTTTTAGAATA	0.323													11	24					0	0	1	0	0	A	38830190	G	A	38830190	3	1	91	1	0	0	0	0	1	0	0	0	16015	1145	40	1	1489	1	TLR6	4	38830190	Missense_Mutation	SNP	G	TCGA-DU-6403-01A-11D-1705-08		38830190	152324086	18	19679											
SNCA	6622	broad.mit.edu	37	4	90743488	90743488	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr4:90743488G>A	ENST00000394989.2	-	3	435	c.173C>T	c.(172-174)aCg>aTg	p.T58M	SNCA_ENST00000508895.1_Missense_Mutation_p.T72M|SNCA_ENST00000505199.1_Missense_Mutation_p.T58M|SNCA_ENST00000394986.1_Missense_Mutation_p.T72M|SNCA_ENST00000420646.2_Missense_Mutation_p.T72M|SNCA_ENST00000506244.1_Missense_Mutation_p.T72M|SNCA_ENST00000345009.4_Missense_Mutation_p.T72M|SNCA_ENST00000336904.3_Missense_Mutation_p.T72M|SNCA_ENST00000502987.1_Missense_Mutation_p.T72M|SNCA_ENST00000394991.3_Missense_Mutation_p.T72M			P37840	SYUA_HUMAN	synuclein, alpha (non A4 component of amyloid precursor)	72	4 X 11 AA tandem repeats of [EGS]-K-T-K- [EQ]-[GQ]-V-X(4).				activation of caspase activity|anti-apoptosis|negative regulation of dopamine uptake|negative regulation of exocytosis|negative regulation of histone acetylation|negative regulation of microtubule polymerization|negative regulation of monooxygenase activity|negative regulation of norepinephrine uptake|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of serotonin uptake|negative regulation of thrombin receptor signaling pathway|negative regulation of transporter activity|positive regulation of endocytosis|positive regulation of inositol phosphate biosynthetic process|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein serine/threonine kinase activity|positive regulation of receptor recycling|positive regulation of release of sequestered calcium ion into cytosol|receptor internalization|regulation of phospholipase activity|response to interferon-gamma|response to interleukin-1|response to iron(II) ion|response to lipopolysaccharide|response to magnesium ion|synaptic vesicle endocytosis	actin cytoskeleton|axon|cell cortex|cell junction|cytosol|fibril|growth cone|nucleus|synapse	alpha-tubulin binding|calcium ion binding|caspase inhibitor activity|dynein binding|ferrous iron binding|histone binding|Hsp70 protein binding|kinesin binding|magnesium ion binding|phosphoprotein binding|tau protein binding|zinc ion binding			kidney(1)|large_intestine(2)|lung(4)|ovary(1)	8		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;7.42e-05)	Melatonin(DB01065)	TGTCACACCCGTCACCACTGC	0.502													15	25					0	0	1	0	0	A	90743488	G	A	90743488	3	1	91	1	0	0	0	0	1	0	0	0	14894	1145	40	1	219	1	SNCA	4	90743488	Missense_Mutation	SNP	G	TCGA-DU-6403-01A-11D-1705-08	51913298	90743488	100410788	19	19680											
NDST3	9348	broad.mit.edu	37	4	119064828	119064828	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr4:119064828G>A	ENST00000296499.5	+	6	1931	c.1528G>A	c.(1528-1530)Gtc>Atc	p.V510I	NDST3_ENST00000433996.2_Missense_Mutation_p.V429I	NM_004784.2	NP_004775.1	O95803	NDST3_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3	510	Heparan sulfate N-deacetylase 3.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						CTTCACTGTCGTCCTCAACCC	0.428													15	32					0	0	1	0	0	A	119064828	G	A	119064828	3	1	91	1	0	0	0	0	1	0	0	0	10304	1145	40	1	1546	1	NDST3	4	119064828	Missense_Mutation	SNP	G	TCGA-DU-6403-01A-11D-1705-08	28321340	119064828	72089448	20	19681											
PRSS12	8492	broad.mit.edu	37	4	119216148	119216148	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr4:119216148C>T	ENST00000296498.3	-	11	2267	c.1985G>A	c.(1984-1986)gGg>gAg	p.G662E	PRSS12_ENST00000510903.1_Intron	NM_003619.3	NP_003610.2	P56730	NETR_HUMAN	protease, serine, 12 (neurotrypsin, motopsin)	662	Peptidase S1.					membrane	scavenger receptor activity			endometrium(3)|kidney(1)|large_intestine(9)|lung(11)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	29						GAGCGTAGCCCCGCAGAGGAG	0.532													12	17					0	0	1	0	0	T	119216148	C	T	119216148	3	4	91	1	0	0	0	0	1	0	0	0	12665	623	22	2	654	2	PRSS12	4	119216148	Missense_Mutation	SNP	C	TCGA-DU-6403-01A-11D-1705-08	151320	119216148	71938128	21	19682											
RAPGEF6	51735	broad.mit.edu	37	5	130766884	130766884	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr5:130766884C>T	ENST00000509018.1	-	26	4338	c.4133G>A	c.(4132-4134)aGc>aAc	p.S1378N	RAPGEF6_ENST00000307984.5_Missense_Mutation_p.S1391N|RAPGEF6_ENST00000296859.6_Missense_Mutation_p.S1386N|RAPGEF6_ENST00000507093.1_Missense_Mutation_p.S1386N|CTC-432M15.3_ENST00000514667.1_Missense_Mutation_p.S1428N	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6	1378	Ser-rich.				Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		GTTTGGAAGGCTTTGGAAGTT	0.443													21	63					0	0	1	0	0	T	130766884	C	T	130766884	3	4	91	1	0	0	0	0	1	0	0	0	13100	797	28	2	684	2	RAPGEF6	5	130766884	Missense_Mutation	SNP	C	TCGA-DU-6403-01A-11D-1705-08		130766884	50148376	22	19683											
PCDHGB4	8641	broad.mit.edu	37	5	140769049	140769049	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr5:140769049G>A	ENST00000519479.1	+	1	1598	c.1598G>A	c.(1597-1599)cGc>cAc	p.R533H	PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron	NM_003736.2|NM_018925.2|NM_032098.1	NP_003727.1|NP_061748.1|NP_115269.1														endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2)	37			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGCAGGCCCGCGACCAGGGC	0.677													20	15					0	0	1	0	0	A	140769049	G	A	140769049	3	1	91	1	0	0	0	0	1	0	0	0	11612	1087	38	1	1600	1	PCDHGB4	5	140769049	Missense_Mutation	SNP	G	TCGA-DU-6403-01A-11D-1705-08	10002165	140769049	40146211	23	19684											
GRIA1	2890	broad.mit.edu	37	5	153174271	153174271	+	Silent	SNP	C	C	T			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr5:153174271C>T	ENST00000285900.5	+	14	2704	c.2361C>T	c.(2359-2361)tgC>tgT	p.C787C	GRIA1_ENST00000521843.2_Silent_p.C718C|GRIA1_ENST00000518783.1_Silent_p.C797C|GRIA1_ENST00000518142.1_Silent_p.C707C|GRIA1_ENST00000340592.5_Intron|GRIA1_ENST00000448073.4_Intron	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	787					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	AGGGCGAGTGCGGCAGCGGGG	0.458													9	23					0	0	1	0	0	T	153174271	C	T	153174271	2	4	91	1	0	0	0	0	0	0	0	1	6808	776	27	1		1	GRIA1	5	153174271	Silent	SNP	C	TCGA-DU-6403-01A-11D-1705-08	12405222	153174271	27740989	24	19685											
FAM71B	153745	broad.mit.edu	37	5	156589604	156589604	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr5:156589604C>T	ENST00000302938.4	-	2	1767	c.1672G>A	c.(1672-1674)Gta>Ata	p.V558I		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	558						nucleus				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			ACGATATCTACCTCTCTGTCA	0.483													61	145					0	0	1	0	0	T	156589604	C	T	156589604	3	4	91	1	0	0	0	0	1	0	0	0	5643	507	18	2	149	2	FAM71B	5	156589604	Missense_Mutation	SNP	C	TCGA-DU-6403-01A-11D-1705-08	3415333	156589604	24325656	25	19686											
PKHD1	5314	broad.mit.edu	37	6	51889804	51889804	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr6:51889804T>G	ENST00000371117.3	-	32	5079	c.4804A>C	c.(4804-4806)Aac>Cac	p.N1602H	PKHD1_ENST00000340994.4_Missense_Mutation_p.N1602H	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	1602	IPT/TIG 11.				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)					GACGTGGTGTTCTGTCCTCTC	0.498													28	65					0	0	1	0	0	G	51889804	T	G	51889804	3	3	91	1	0	0	0	0	1	0	0	0	12019	1783	62	5	7603	5	PKHD1	6	51889804	Missense_Mutation	SNP	T	TCGA-DU-6403-01A-11D-1705-08		51889804	119225263	26	19687											
CHN2	1124	broad.mit.edu	37	7	29535576	29535576	+	Silent	SNP	G	G	A			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr7:29535576G>A	ENST00000222792.6	+	8	1193	c.663G>A	c.(661-663)acG>acA	p.T221T	CHN2_ENST00000424025.2_Silent_p.T40T|CHN2_ENST00000539389.1_Silent_p.T77T|CHN2_ENST00000410098.1_3'UTR|CHN2_ENST00000439711.2_Silent_p.T85T|CHN2_ENST00000421775.2_Silent_p.T85T|CHN2_ENST00000495789.2_Silent_p.T234T|CHN2_ENST00000539406.1_Silent_p.T296T|CHN2_ENST00000435288.2_Intron|CHN2_ENST00000409041.4_Silent_p.T85T|CHN2_ENST00000546235.1_Silent_p.T206T	NM_004067.2	NP_004058.1	P52757	CHIO_HUMAN	chimerin 2	221					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|membrane	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity			breast(2)|endometrium(3)|large_intestine(2)|lung(12)|ovary(2)|urinary_tract(2)	23						AGGTCCACACGTTCCGAGGCC	0.483													28	47					0	0	1	0	0	A	29535576	G	A	29535576	2	1	91	1	0	0	0	0	0	0	0	1	3385	1132	40	1		1	CHN2	7	29535576	Silent	SNP	G	TCGA-DU-6403-01A-11D-1705-08		29535576	129603087	27	19688											
HECW1	23072	broad.mit.edu	37	7	43581598	43581598	+	Splice_Site	SNP	G	G	C			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr7:43581598G>C	ENST00000395891.2	+	26	4853		c.e26+1		HECW1_ENST00000453890.1_Splice_Site	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1						protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						TTTTGGACAGGTTTGTGTGAC	0.368													26	126					0	0	1	0	0	C	43581598	G	C	43581598	5	2	91	1	0	0	0	0	0	0	1	0	7083	1275	44	5	4343	5	HECW1	7	43581598	Splice_Site	SNP	G	TCGA-DU-6403-01A-11D-1705-08	14046022	43581598	115557065	28	19689											
WBSCR17	64409	broad.mit.edu	37	7	70597851	70597851	+	Silent	SNP	C	C	T			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr7:70597851C>T	ENST00000333538.5	+	1	697	c.63C>T	c.(61-63)ttC>ttT	p.F21F		NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	21						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)				TAGCCGGCTTCGTGCTCTTCC	0.672													3	19					0	0	1	0	0	T	70597851	C	T	70597851	2	4	91	1	0	0	0	0	0	0	0	1	17324	883	31	1		1	WBSCR17	7	70597851	Silent	SNP	C	TCGA-DU-6403-01A-11D-1705-08	27016253	70597851	88540812	29	19690											
HGF	3082	broad.mit.edu	37	7	81339500	81339500	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr7:81339500G>A	ENST00000222390.5	-	13	1730	c.1504C>T	c.(1504-1506)Cga>Tga	p.R502*	HGF_ENST00000457544.2_Nonsense_Mutation_p.R497*	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN	hepatocyte growth factor (hepapoietin A; scatter factor)	502	Peptidase S1.				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						ATGTTTGTTCGTGTTGGAATC	0.348													15	74					0	0	1	0	0	A	81339500	G	A	81339500	4	1	91	1	0	0	0	0	0	1	0	0	7126	1153	40	1	706	1	HGF	7	81339500	Nonsense_Mutation	SNP	G	TCGA-DU-6403-01A-11D-1705-08	10741649	81339500	77799163	30	19691											
PCLO	27445	broad.mit.edu	37	7	82785657	82785657	+	Silent	SNP	C	C	T			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr7:82785657C>T	ENST00000333891.9	-	2	637	c.300G>A	c.(298-300)ccG>ccA	p.P100P	PCLO_ENST00000423517.2_Silent_p.P100P	NM_033026.5	NP_149015.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein						cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GCCCAGGGTCCGGGGGTCTTC	0.418													15	36					0	0	1	0	0	T	82785657	C	T	82785657	2	4	91	1	0	0	0	0	0	0	0	1	11630	639	23	1		1	PCLO	7	82785657	Silent	SNP	C	TCGA-DU-6403-01A-11D-1705-08	1446157	82785657	76353006	31	19692											
EPHB6	2051	broad.mit.edu	37	7	142563850	142563850	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr7:142563850G>T	ENST00000392957.2	+	9	2025	c.1238G>T	c.(1237-1239)cGc>cTc	p.R413L	EPHB6_ENST00000442129.1_Missense_Mutation_p.R413L|EPHB6_ENST00000411471.2_Missense_Mutation_p.R136L	NM_004445.3	NP_004436.3	O15197	EPHB6_HUMAN	EPH receptor B6	413	Fibronectin type-III 1.					extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					TGTGAAGGCCGCCAGGAACCT	0.637													7	6					8.12818e-05	8.32404e-05	1	1	0	T	142563850	G	T	142563850	3	4	91	1	0	0	0	0	1	0	0	0	5206	1087	38	5	1256	5	EPHB6	7	142563850	Missense_Mutation	SNP	G	TCGA-DU-6403-01A-11D-1705-08	59778193	142563850	16574813	32	19693											
OR2A5	393046	broad.mit.edu	37	7	143747664	143747664	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr7:143747664C>A	ENST00000408906.2	+	1	204	c.170C>A	c.(169-171)cCc>cAc	p.P57H		NM_012365.1	NP_036497.1	Q96R48	OR2A5_HUMAN	olfactory receptor, family 2, subfamily A, member 5	57					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(3)|large_intestine(5)|lung(23)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	38	Melanoma(164;0.0783)					CTGCACACCCCCATGTACTTC	0.502													42	73					7.63091e-17	8.53457e-17	1	1	0	A	143747664	C	A	143747664	3	1	91	1	0	0	0	0	1	0	0	0	11029	623	22	5	172	5	OR2A5	7	143747664	Missense_Mutation	SNP	C	TCGA-DU-6403-01A-11D-1705-08	1183814	143747664	15390999	33	19694											
NOBOX	135935	broad.mit.edu	37	7	144096876	144096876	+	Silent	SNP	G	G	A			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr7:144096876G>A	ENST00000467773.1	-	6	1127	c.1128C>T	c.(1126-1128)gcC>gcT	p.A376A	NOBOX_ENST00000483238.1_Silent_p.A344A|NOBOX_ENST00000223140.5_Silent_p.A259A	NM_001080413.3	NP_001073882.3	O60393	NOBOX_HUMAN	NOBOX oogenesis homeobox	376					cell differentiation|oogenesis	nucleus	sequence-specific DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	26	Melanoma(164;0.14)					CAGGGCCAGGGGCTGCAGGAT	0.537													3	17					0	0	1	0	0	A	144096876	G	A	144096876	2	1	91	1	0	0	0	0	0	0	0	1	10559	1219	43	2		2	NOBOX	7	144096876	Silent	SNP	G	TCGA-DU-6403-01A-11D-1705-08	349212	144096876	15041787	34	19695											
ABCF2	10061	broad.mit.edu	37	7	150921894	150921894	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr7:150921894C>T	ENST00000287844.2	-	3	444	c.335G>A	c.(334-336)cGt>cAt	p.R112H	ABCF2_ENST00000222388.2_Missense_Mutation_p.R112H	NM_007189.1	NP_009120.1	Q9UG63	ABCF2_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 2	112	ABC transporter 1.					ATP-binding cassette (ABC) transporter complex|mitochondrial envelope	ATP binding|ATPase activity|transporter activity			breast(1)|central_nervous_system(1)|large_intestine(4)|lung(15)|ovary(1)|skin(2)	24			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GCCATAACGACGGCCTGAGTT	0.463													13	38					0	0	1	0	0	T	150921894	C	T	150921894	3	4	91	1	0	0	0	0	1	0	0	0	66	536	19	1	1629	1	ABCF2	7	150921894	Missense_Mutation	SNP	C	TCGA-DU-6403-01A-11D-1705-08	6825018	150921894	8216769	35	19696											
GRHL2	79977	broad.mit.edu	37	8	102585973	102585973	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr8:102585973A>G	ENST00000251808.3	+	6	1150	c.812A>G	c.(811-813)aAc>aGc	p.N271S	GRHL2_ENST00000395927.1_Missense_Mutation_p.N255S	NM_024915.3	NP_079191.2	Q6ISB3	GRHL2_HUMAN	grainyhead-like 2 (Drosophila)	271						cytoplasm|nucleus	DNA binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05)		Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213)			ACCTACCTCAACAAAGGACAG	0.522													16	28					0	0	1	0	0	G	102585973	A	G	102585973	3	3	91	1	0	0	0	0	1	0	0	0	6805	43	2	3	834	3	GRHL2	8	102585973	Missense_Mutation	SNP	A	TCGA-DU-6403-01A-11D-1705-08		102585973	43778049	36	19697											
TSC1	7248	broad.mit.edu	37	9	135798758	135798758	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr9:135798758G>A	ENST00000298552.3	-	6	706	c.485C>T	c.(484-486)tCa>tTa	p.S162L	TSC1_ENST00000545250.1_Missense_Mutation_p.S111L|TSC1_ENST00000475903.1_5'UTR|TSC1_ENST00000440111.2_Missense_Mutation_p.S162L|TSC1_ENST00000403810.1_Missense_Mutation_p.S162L	NM_000368.4|NM_001162426.1|NM_001162427.1	NP_000359.1|NP_001155898.1|NP_001155899.1	Q92574	TSC1_HUMAN	tuberous sclerosis 1	162					activation of Rho GTPase activity|cell cycle arrest|cell-matrix adhesion|insulin receptor signaling pathway|negative regulation of cell proliferation|negative regulation of protein ubiquitination|negative regulation of TOR signaling cascade|negative regulation of translation|positive regulation of focal adhesion assembly|regulation of phosphoprotein phosphatase activity|regulation of stress fiber assembly|rRNA export from nucleus	cell cortex|lamellipodium|membrane|TSC1-TSC2 complex	chaperone binding|protein N-terminus binding			NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	65				OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)		GCACCATGATGACAGACGGCC	0.433			"D, Mis, N, F, S"			"hamartoma, renal cell"			Tuberous Sclerosis				15	33					0	0	1	0	0	A	135798758	G	A	135798758	3	1	91	1	0	0	0	0	1	0	0	0	16666	1294	45	2	3081	2	TSC1	9	135798758	Missense_Mutation	SNP	G	TCGA-DU-6403-01A-11D-1705-08		135798758	5414673	37	19698											
COL17A1	1308	broad.mit.edu	37	10	105793848	105793848	+	Silent	SNP	A	A	G	rs147001132	byFrequency	TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr10:105793848A>G	ENST00000353479.5	-	52	4301	c.4011T>C	c.(4009-4011)taT>taC	p.Y1337Y	COL17A1_ENST00000369733.3_Silent_p.Y1255Y	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN	collagen, type XVII, alpha 1	1337	Triple-helical region.				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		TGTCAGTGCCATAGGGACCCC	0.617													4	5					0	0	1	0	0	G	105793848	A	G	105793848	2	3	91	1	0	0	0	0	0	0	0	1	3697	224	8	3		3	COL17A1	10	105793848	Silent	SNP	A	TCGA-DU-6403-01A-11D-1705-08		105793848	29740899	38	19699											
OR5AP2	338675	broad.mit.edu	37	11	56409492	56409492	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr11:56409492C>T	ENST00000544374.1	-	1	455	c.427G>A	c.(427-429)Gtg>Atg	p.V143M	OR5AP2_ENST00000302981.1_Missense_Mutation_p.V142M			Q8NGF4	O5AP2_HUMAN	olfactory receptor, family 5, subfamily AP, member 2	142					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V142M(1)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	29						CTCCCAGACACGAGAACTGGG	0.488													12	33					0	0	1	0	0	T	56409492	C	T	56409492	3	4	91	1	0	0	0	0	1	0	0	0	11191	536	19	1	530	1	OR5AP2	11	56409492	Missense_Mutation	SNP	C	TCGA-DU-6403-01A-11D-1705-08		56409492	78597024	39	19700											
PRCP	5547	broad.mit.edu	37	11	82571020	82571020	+	Splice_Site	SNP	G	G	A			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr11:82571020G>A	ENST00000313010.3	-	2	502	c.308C>T	c.(307-309)aCg>aTg	p.T103M	PRCP_ENST00000535099.1_Intron|PRCP_ENST00000393399.2_Splice_Site_p.T124M	NM_005040.2	NP_005031.1	P42785	PCP_HUMAN	prolylcarboxypeptidase (angiotensinase C)	103					blood coagulation, intrinsic pathway|proteolysis	lysosome|plasma membrane	protein binding|serine-type carboxypeptidase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	17						TGCACATACCGTGTTATTACA	0.353													8	31					0	0	1	0	0	A	82571020	G	A	82571020	5	1	91	1	0	0	0	0	0	0	1	0	12501	1159	40	1	1214	1	PRCP	11	82571020	Splice_Site	SNP	G	TCGA-DU-6403-01A-11D-1705-08	26161528	82571020	52435496	40	19701											
ESAM	90952	broad.mit.edu	37	11	124624651	124624651	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr11:124624651G>A	ENST00000278927.5	-	5	745	c.616C>T	c.(616-618)Cgt>Tgt	p.R206C	ESAM_ENST00000442070.2_Missense_Mutation_p.R27C	NM_138961.2	NP_620411.2	Q96AP7	ESAM_HUMAN	endothelial cell adhesion molecule	206	Ig-like C2-type.				blood coagulation|leukocyte migration	adherens junction|integral to membrane|tight junction				endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.022)		AAAGACCCACGGATGACATCT	0.478													30	63					0	0	1	0	0	A	124624651	G	A	124624651	3	1	91	1	0	0	0	0	1	0	0	0	5275	1116	39	1	568	1	ESAM	11	124624651	Missense_Mutation	SNP	G	TCGA-DU-6403-01A-11D-1705-08	42053631	124624651	10381865	41	19702											
ST14	6768	broad.mit.edu	37	11	130079588	130079588	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr11:130079588A>G	ENST00000278742.5	+	19	2856	c.2438A>G	c.(2437-2439)gAg>gGg	p.E813G		NM_021978.3	NP_068813.1	Q9Y5Y6	ST14_HUMAN	suppression of tumorigenicity 14 (colon carcinoma)	813	Peptidase S1.				proteolysis	integral to plasma membrane	serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|pancreas(2)|prostate(1)|skin(3)	32	all_hematologic(175;0.0429)	Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228)	Urokinase(DB00013)	TCCAGCGTGGAGGCGGATGGG	0.692													3	26					0	0	1	0	0	G	130079588	A	G	130079588	3	3	91	1	0	0	0	0	1	0	0	0	15267	304	11	3	2512	3	ST14	11	130079588	Missense_Mutation	SNP	A	TCGA-DU-6403-01A-11D-1705-08	5454937	130079588	4926928	42	19703											
TDRD3	81550	broad.mit.edu	37	13	61103049	61103049	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr13:61103049A>G	ENST00000196169.3	+	11	2199	c.1411A>G	c.(1411-1413)Att>Gtt	p.I471V	TDRD3_ENST00000377894.2_Missense_Mutation_p.I471V|TDRD3_ENST00000377881.2_Missense_Mutation_p.I471V|TDRD3_ENST00000535286.1_Missense_Mutation_p.I564V	NM_001146071.1|NM_030794.2	NP_001139543.1|NP_110421.1	Q9H7E2	TDRD3_HUMAN	tudor domain containing 3	471					chromatin modification	cytoplasm|nucleus	chromatin binding|methylated histone residue binding|nucleic acid binding|transcription coactivator activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	40		Prostate(109;0.173)|Breast(118;0.174)		GBM - Glioblastoma multiforme(99;0.000291)		TGGTATAAAAATTGAAAAACA	0.303													3	30					0	0	1	0	0	G	61103049	A	G	61103049	3	3	91	1	0	0	0	0	1	0	0	0	15791	101	4	3	1732	3	TDRD3	13	61103049	Missense_Mutation	SNP	A	TCGA-DU-6403-01A-11D-1705-08		61103049	54066829	43	19704											
DLGAP5	9787	broad.mit.edu	37	14	55619340	55619340	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr14:55619340G>T	ENST00000247191.2	-	16	2305	c.2089C>A	c.(2089-2091)Cct>Act	p.P697T	DLGAP5_ENST00000395425.2_Missense_Mutation_p.P697T	NM_014750.4	NP_055565.3	Q15398	DLGP5_HUMAN	discs, large (Drosophila) homolog-associated protein 5	697					cell proliferation|cell-cell signaling|mitotic chromosome movement towards spindle pole|positive regulation of mitotic metaphase/anaphase transition	nucleus|spindle pole centrosome	phosphoprotein phosphatase activity|protein binding			biliary_tract(1)|breast(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	44						GGTAATCCAGGACACTGAGCA	0.323													5	16					1.23904e-05	1.30023e-05	1	1	0	T	55619340	G	T	55619340	3	4	91	1	0	0	0	0	1	0	0	0	4591	1174	41	5	562	5	DLGAP5	14	55619340	Missense_Mutation	SNP	G	TCGA-DU-6403-01A-11D-1705-08		55619340	51730200	44	19705											
TUBGCP5	114791	broad.mit.edu	37	15	22835954	22835954	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr15:22835954A>G	ENST00000283645.4	+	2	315	c.185A>G	c.(184-186)gAa>gGa	p.E62G	TUBGCP5_ENST00000453949.2_Missense_Mutation_p.E62G	NM_052903.4	NP_443135.3	Q96RT8	GCP5_HUMAN	tubulin, gamma complex associated protein 5	62					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			breast(5)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	46		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949)		CACAAAATAGAAAAAACAATC	0.313													52	85					0	0	1	0	0	G	22835954	A	G	22835954	3	3	91	1	0	0	0	0	1	0	0	0	16831	246	9	3	191	3	TUBGCP5	15	22835954	Missense_Mutation	SNP	A	TCGA-DU-6403-01A-11D-1705-08		22835954	79695438	45	19706											
DUOX2	50506	broad.mit.edu	37	15	45401122	45401122	+	Silent	SNP	G	G	A			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr15:45401122G>A	ENST00000389039.6	-	12	1648	c.1263C>T	c.(1261-1263)tcC>tcT	p.S421S	DUOX2_ENST00000603300.1_Silent_p.S421S			Q9NRD8	DUOX2_HUMAN	dual oxidase 2	421	Peroxidase-like; mediates peroxidase activity (By similarity).				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		AGTCTGTACGGGAGAATTTGC	0.557													12	41					0	0	1	0	0	A	45401122	G	A	45401122	2	1	91	1	0	0	0	0	0	0	0	1	4827	1219	43	2		2	DUOX2	15	45401122	Silent	SNP	G	TCGA-DU-6403-01A-11D-1705-08	22565168	45401122	57130270	46	19707											
SPATA8	145946	broad.mit.edu	37	15	97328356	97328356	+	Nonstop_Mutation	SNP	T	T	A			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr15:97328356T>A	ENST00000558553.1	+	3	354	c.205T>A	c.(205-207)Tag>Aag	p.*69K	SPATA8_ENST00000328504.3_3'UTR			Q6RVD6	SPAT8_HUMAN	spermatogenesis associated 8	0										large_intestine(4)|lung(8)|ovary(1)|skin(3)	16	Melanoma(26;0.0142)|Lung NSC(78;0.041)|all_lung(78;0.0468)		OV - Ovarian serous cystadenocarcinoma(32;0.0718)			GATTTTTCAATAGTGTCCCTA	0.483													24	64					0	0	1	0	0	A	97328356	T	A	97328356	4	1	91	1	0	0	0	0	0	0	0	0	15071	1421	49	4		4	SPATA8	15	97328356	Nonstop_Mutation	SNP	T	TCGA-DU-6403-01A-11D-1705-08	51927234	97328356	5203036	47	19708											
MYH11	4629	broad.mit.edu	37	16	15839063	15839063	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr16:15839063C>T	ENST00000452625.2	-	21	2551	c.2464G>A	c.(2464-2466)Gcc>Acc	p.A822T	MYH11_ENST00000300036.5_Missense_Mutation_p.A815T|MYH11_ENST00000396324.3_Missense_Mutation_p.A822T|MYH11_ENST00000576790.2_Missense_Mutation_p.A815T	NM_001040113.1	NP_001035202.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	815					axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						ACCTTCATGGCGGTCAGCTGC	0.617			T	CBFB	AML								22	42					0	0	1	0	0	T	15839063	C	T	15839063	3	4	91	1	0	0	0	0	1	0	0	0	10079	768	27	1	3598	1	MYH11	16	15839063	Missense_Mutation	SNP	C	TCGA-DU-6403-01A-11D-1705-08		15839063	74515690	48	19709											
DVL2	1856	broad.mit.edu	37	17	7130442	7130442	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr17:7130442C>T	ENST00000005340.5	-	13	1792	c.1510G>A	c.(1510-1512)Gtc>Atc	p.V504I	DVL2_ENST00000575458.1_Missense_Mutation_p.V498I	NM_004422.2	NP_004413.1	O14641	DVL2_HUMAN	dishevelled segment polarity protein 2	504	DEP.				canonical Wnt receptor signaling pathway involved in regulation of cell proliferation|intracellular signal transduction|neural tube closure|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|segment specification|transcription from RNA polymerase II promoter	cytosol|nucleus|plasma membrane	frizzled binding|identical protein binding|signal transducer activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(7)|skin(1)	25						TCTCCGAAGACGTAATAGCAC	0.587													37	67					0	0	1	0	0	T	7130442	C	T	7130442	3	4	91	1	0	0	0	0	1	0	0	0	4862	536	19	1	712	1	DVL2	17	7130442	Missense_Mutation	SNP	C	TCGA-DU-6403-01A-11D-1705-08		7130442	74064768	49	19710											
MYOCD	93649	broad.mit.edu	37	17	12620681	12620681	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr17:12620681C>T	ENST00000425538.1	+	4	396	c.196C>T	c.(196-198)Cgc>Tgc	p.R66C	MYOCD_ENST00000343344.4_Missense_Mutation_p.R66C	NM_001146312.1|NM_153604.2	NP_001139784.1|NP_705832.1	Q8IZQ8	MYCD_HUMAN	myocardin	66					cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		TTCCCTGAAGCGCAAAGCCAG	0.398													6	14					0	0	1	0	0	T	12620681	C	T	12620681	3	4	91	1	0	0	0	0	1	0	0	0	10135	768	27	1	210	1	MYOCD	17	12620681	Missense_Mutation	SNP	C	TCGA-DU-6403-01A-11D-1705-08	5490239	12620681	68574529	50	19711											
KRT31	3881	broad.mit.edu	37	17	39553754	39553754	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr17:39553754C>T	ENST00000251645.2	-	1	90	c.38G>A	c.(37-39)cGc>cAc	p.R13H		NM_002277.2	NP_002268.2	Q15323	K1H1_HUMAN	keratin 31	13	Head.				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	31		Breast(137;0.000496)				GCAGCTGGTGCGGCAGCTCAG	0.647													8	21					0	0	1	0	0	T	39553754	C	T	39553754	3	4	91	1	0	0	0	0	1	0	0	0	8510	768	27	1	1240	1	KRT31	17	39553754	Missense_Mutation	SNP	C	TCGA-DU-6403-01A-11D-1705-08	26933073	39553754	41641456	51	19712											
NPC1	4864	broad.mit.edu	37	18	21115459	21115459	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr18:21115459C>T	ENST00000269228.5	-	22	4005	c.3451G>A	c.(3451-3453)Gct>Act	p.A1151T	NPC1_ENST00000412552.2_Missense_Mutation_p.A833T	NM_000271.4	NP_000262.2	O15118	NPC1_HUMAN	Niemann-Pick disease, type C1	1151					autophagy|bile acid metabolic process|cholesterol efflux|cholesterol homeostasis|lysosomal transport	endoplasmic reticulum|integral to plasma membrane|late endosome membrane|lysosomal membrane|nuclear envelope|perinuclear region of cytoplasm	hedgehog receptor activity|protein binding|sterol transporter activity			breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1)	38	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)					AAGGATACAGCGTTCAGACTG	0.512													3	11					0	0	1	0	0	T	21115459	C	T	21115459	3	4	91	1	0	0	0	0	1	0	0	0	10617	768	27	1	401	1	NPC1	18	21115459	Missense_Mutation	SNP	C	TCGA-DU-6403-01A-11D-1705-08		21115459	56961789	52	19713											
ATP8B3	148229	broad.mit.edu	37	19	1785228	1785228	+	Silent	SNP	G	G	A			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr19:1785228G>A	ENST00000539485.1	-	27	3725	c.3492C>T	c.(3490-3492)taC>taT	p.Y1164Y	ATP8B3_ENST00000310127.6_Silent_p.Y1154Y|ATP8B3_ENST00000525591.1_Silent_p.Y1117Y			O60423	AT8B3_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 3	1154					ATP biosynthetic process		ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23		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)		TCATGATGGCGTAGAAACCAA	0.597													5	8					0	0	1	0	0	A	1785228	G	A	1785228	2	1	91	1	0	0	0	0	0	0	0	1	1194	1140	40	1		1	ATP8B3	19	1785228	Silent	SNP	G	TCGA-DU-6403-01A-11D-1705-08		1785228	57343755	53	19714											
CYP4F3	4051	broad.mit.edu	37	19	15770103	15770103	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr19:15770103G>A	ENST00000221307.8	+	13	1518	c.1471G>A	c.(1471-1473)Gtc>Atc	p.V491I	CYP4F3_ENST00000585846.1_Missense_Mutation_p.V491I|CYP4F3_ENST00000591058.1_Missense_Mutation_p.V491I|CYP4F3_ENST00000586182.2_Missense_Mutation_p.V491I	NM_000896.2	NP_000887.2	Q08477	CP4F3_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 3						leukotriene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding	p.V491L(1)		endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1)	34						GCGCTTCCGCGTCCTGCCTGA	0.672													9	19					0	0	1	0	0	A	15770103	G	A	15770103	3	1	91	1	0	0	0	0	1	0	0	0	4213	1145	40	1	1517	1	CYP4F3	19	15770103	Missense_Mutation	SNP	G	TCGA-DU-6403-01A-11D-1705-08	13984875	15770103	43358880	54	19715											
MPPED1	758	broad.mit.edu	37	22	43870690	43870690	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr22:43870690G>A	ENST00000417669.2	+	4	925	c.481G>A	c.(481-483)Gac>Aac	p.D161N	MPPED1_ENST00000439548.1_Missense_Mutation_p.D3N|MPPED1_ENST00000538182.1_Missense_Mutation_p.D194N|MPPED1_ENST00000414469.2_Missense_Mutation_p.D55N|MPPED1_ENST00000443721.1_Missense_Mutation_p.D161N|MPPED1_ENST00000542779.1_Missense_Mutation_p.D161N			O15442	MPPD1_HUMAN	metallophosphoesterase domain containing 1								hydrolase activity			endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|skin(1)	13		all_neural(38;0.0244)|Ovarian(80;0.0694)				GTTCATGGCCGACCTCATCAA	0.542													32	77					0	0	1	0	0	A	43870690	G	A	43870690	3	1	91	1	0	0	0	0	1	0	0	0	9790	1058	37	1	491	1	MPPED1	22	43870690	Missense_Mutation	SNP	G	TCGA-DU-6403-01A-11D-1705-08		43870690	7433876	55	19716											
PHKA2	5256	broad.mit.edu	37	X	18912471	18912471	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chrX:18912471G>C	ENST00000379942.4	-	32	4053	c.3388C>G	c.(3388-3390)Cgc>Ggc	p.R1130G	PHKA2_ENST00000481718.1_5'UTR|PHKA2-AS1_ENST00000439295.1_RNA	NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	1130					glucose metabolic process|glycogen catabolic process	cytosol|phosphorylase kinase complex|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity	p.R1130C(1)		NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61	Hepatocellular(33;0.183)					TGCGGCACGCGGTTCAGCACC	0.602													18	34					0	0	1	0	0	C	18912471	G	C	18912471	3	2	91	1	0	0	0	0	1	0	0	0	11892	1116	39	5	327	5	PHKA2	23	18912471	Missense_Mutation	SNP	G	TCGA-DU-6403-01A-11D-1705-08		18912471	136358089	56	19717											
CYBB	1536	broad.mit.edu	37	X	37660587	37660587	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chrX:37660587G>C	ENST00000378588.4	+	8	950	c.883G>C	c.(883-885)Gtg>Ctg	p.V295L	CYBB_ENST00000536160.1_Missense_Mutation_p.V28L|TM4SF2_ENST00000465127.1_Intron|CYBB_ENST00000545017.1_Missense_Mutation_p.V263L|CYBB_ENST00000492288.1_3'UTR	NM_000397.3	NP_000388.2	P04839	CY24B_HUMAN	cytochrome b-245, beta polypeptide	295	FAD-binding FR-type.				electron transport chain|inflammatory response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex	electron carrier activity|flavin adenine dinucleotide binding|heme binding|protein heterodimerization activity|superoxide-generating NADPH oxidase activity|voltage-gated ion channel activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|prostate(2)|skin(2)	32						TCAACAGAAGGTGGTCATCAC	0.418													81	149					0	0	1	0	0	C	37660587	G	C	37660587	3	2	91	1	0	0	0	0	1	0	0	0	4156	1261	44	5	913	5	CYBB	23	37660587	Missense_Mutation	SNP	G	TCGA-DU-6403-01A-11D-1705-08	18748116	37660587	117609973	57	19718											
BCOR	54880	broad.mit.edu	37	X	39933842	39933842	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chrX:39933842C>T	ENST00000342274.4	-	4	1119	c.757G>A	c.(757-759)Gtc>Atc	p.V253I	BCOR_ENST00000378455.4_Missense_Mutation_p.V253I|BCOR_ENST00000397354.3_Missense_Mutation_p.V253I|BCOR_ENST00000378444.4_Missense_Mutation_p.V253I	NM_001123383.1	NP_001116855.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	253					heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						TGGGGACCGACGTAGTGAGGT	0.612			"F, N, S, T"	RARA	"retinoblastoma, AML, APL(translocation)"		oculo-facio-cardio-dental genetic						7	20					0	0	1	0	0	T	39933842	C	T	39933842	3	4	91	1	0	0	0	0	1	0	0	0	1384	536	19	1	4558	1	BCOR	23	39933842	Missense_Mutation	SNP	C	TCGA-DU-6403-01A-11D-1705-08	2273255	39933842	115336718	58	19719	103	2									
BCOR	54880	broad.mit.edu	37	X	39933843	39933843	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chrX:39933843G>T	ENST00000342274.4	-	4	1118	c.756C>A	c.(754-756)taC>taA	p.Y252*	BCOR_ENST00000378455.4_Nonsense_Mutation_p.Y252*|BCOR_ENST00000397354.3_Nonsense_Mutation_p.Y252*|BCOR_ENST00000378444.4_Nonsense_Mutation_p.Y252*	NM_001123383.1	NP_001116855.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	252					heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						GGGGACCGACGTAGTGAGGTG	0.607			"F, N, S, T"	RARA	"retinoblastoma, AML, APL(translocation)"		oculo-facio-cardio-dental genetic						7	20					0.00198382	0.00200744	1	1	0	T	39933843	G	T	39933843	4	4	91	1	0	0	0	0	0	1	0	0	1384	1140	40	5	4559	5	BCOR	23	39933843	Nonsense_Mutation	SNP	G	TCGA-DU-6403-01A-11D-1705-08	1	39933843	115336717	59	19720	103	2									
PCDH19	57526	broad.mit.edu	37	X	99662058	99662058	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chrX:99662058C>A	ENST00000373034.4	-	1	3213	c.1538G>T	c.(1537-1539)gGc>gTc	p.G513V	PCDH19_ENST00000420881.2_Missense_Mutation_p.G513V|PCDH19_ENST00000255531.7_Missense_Mutation_p.G513V	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	513	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						GTAGATGTCGCCTGAGTTGGG	0.587													39	60					8.73648e-17	9.64417e-17	1	1	0	A	99662058	C	A	99662058	3	1	91	1	0	0	0	0	1	0	0	0	11561	739	26	5	1932	5	PCDH19	23	99662058	Missense_Mutation	SNP	C	TCGA-DU-6403-01A-11D-1705-08	59728215	99662058	55608502	60	19721											
TFDP3	51270	broad.mit.edu	37	X	132351926	132351926	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chrX:132351926G>A	ENST00000310125.4	-	1	450	c.362C>T	c.(361-363)aCg>aTg	p.T121M		NM_016521.2	NP_057605.3	Q5H9I0	TFDP3_HUMAN	transcription factor Dp family, member 3	121		Critical for repression of E2F activity.				transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(1)|lung(8)|ovary(1)|prostate(2)	19	Acute lymphoblastic leukemia(192;0.000127)					CCTCTGCACCGTCTCCCAGAC	0.592													35	81					0	0	1	0	0	A	132351926	G	A	132351926	3	1	91	1	0	0	0	0	1	0	0	0	15859	1145	40	1	859	1	TFDP3	23	132351926	Missense_Mutation	SNP	G	TCGA-DU-6403-01A-11D-1705-08	32689868	132351926	22918634	61	19722											
AFF2	2334	broad.mit.edu	37	X	148069037	148069037	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chrX:148069037G>T	ENST00000370460.2	+	20	4243	c.3764G>T	c.(3763-3765)cGg>cTg	p.R1255L	AFF2_ENST00000370457.5_Missense_Mutation_p.R1220L|AFF2_ENST00000286437.5_Missense_Mutation_p.R896L|AFF2_ENST00000342251.3_Missense_Mutation_p.R1222L	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	1255					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					AATGTGTTACGGGGCTATGAA	0.483													38	87					4.17593e-13	4.5507e-13	1	1	0	T	148069037	G	T	148069037	3	4	91	1	0	0	0	0	1	0	0	0	356	1116	39	5	3897	5	AFF2	23	148069037	Missense_Mutation	SNP	G	TCGA-DU-6403-01A-11D-1705-08	15717111	148069037	7201523	62	19723											
L1CAM	3897	broad.mit.edu	37	X	153133300	153133300	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chrX:153133300G>A	ENST00000370060.1	-	16	2083	c.1894C>T	c.(1894-1896)Cgc>Tgc	p.R632C	L1CAM_ENST00000370055.1_Missense_Mutation_p.R627C|L1CAM_ENST00000538883.1_Missense_Mutation_p.R634C|L1CAM_ENST00000361699.4_Missense_Mutation_p.R632C|L1CAM_ENST00000361981.3_Missense_Mutation_p.R627C|L1CAM_ENST00000543994.1_Missense_Mutation_p.R634C|L1CAM_ENST00000370057.3_Missense_Mutation_p.R632C	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	632	Fibronectin type-III 1.		R -> P (in MASA).		axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane		p.R632S(1)		NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CAGGACACGCGCACCTGGCTC	0.667													25	62					0	0	1	0	0	A	153133300	G	A	153133300	3	1	91	1	0	0	0	0	1	0	0	0	8627	1087	38	1	1935	1	L1CAM	23	153133300	Missense_Mutation	SNP	G	TCGA-DU-6403-01A-11D-1705-08	5064263	153133300	2137260	63	19724											
MAGI3	260425	broad.mit.edu	37	1	114123223	114123223	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6404-01A-11D-1705-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2b5382c-99ce-4fe0-aafb-4dc893198379	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr1:114123223G>A	ENST00000369615.1	+	3	555	c.493G>A	c.(493-495)Gtt>Att	p.V165I	MAGI3_ENST00000369611.4_Missense_Mutation_p.V165I|MAGI3_ENST00000369617.4_Missense_Mutation_p.V165I|MAGI3_ENST00000307546.9_Missense_Mutation_p.V165I|MAGI3_ENST00000486456.1_3'UTR	NM_152900.2	NP_690864.2	Q5TCQ9	MAGI3_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 3	165	Guanylate kinase-like.				apoptosis|interspecies interaction between organisms|intracellular signal transduction	nucleus|tight junction	ATP binding|guanylate kinase activity|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TTTCATTTCCGTTGAACAGTT	0.393													18	72					0	0	0.010504	0	0	A	114123223	G	A	114123223	3	1	92	1	0	0	0	0	1	0	0	0	9242	1145	40	1	503	1	MAGI3	1	114123223	Missense_Mutation	SNP	G	TCGA-DU-6404-01A-11D-1705-08		114123223	135127398	1	19725											
FMNL2	114793	broad.mit.edu	37	2	153473700	153473700	+	Silent	SNP	C	C	T			TCGA-DU-6404-01A-11D-1705-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2b5382c-99ce-4fe0-aafb-4dc893198379	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr2:153473700C>T	ENST00000288670.9	+	13	1675	c.1308C>T	c.(1306-1308)gtC>gtT	p.V436V		NM_052905.3	NP_443137.2	Q96PY5	FMNL2_HUMAN	formin-like 2	436	GBD/FH3.				actin cytoskeleton organization	cytoplasm	actin binding|Rho GTPase binding			central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(2)|lung(3)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	23						AGCTGGATGTCGTTCGGGTAA	0.473													17	24					0	0	0.00499	0	0	T	153473700	C	T	153473700	2	4	92	1	0	0	0	0	0	0	0	1	5985	871	31	1		1	FMNL2	2	153473700	Silent	SNP	C	TCGA-DU-6404-01A-11D-1705-08		153473700	89725673	2	19726											
KALRN	8997	broad.mit.edu	37	3	124053129	124053129	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6404-01A-11D-1705-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2b5382c-99ce-4fe0-aafb-4dc893198379	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr3:124053129A>C	ENST00000360013.3	+	9	1555	c.1428A>C	c.(1426-1428)aaA>aaC	p.K476N	KALRN_ENST00000460856.1_Missense_Mutation_p.K476N|KALRN_ENST00000240874.3_Missense_Mutation_p.K476N	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	476					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						AGGATGGCAAAGCACTACTTG	0.572													38	71					0	0	0.005524	0	0	C	124053129	A	C	124053129	3	2	92	1	0	0	0	0	1	0	0	0	8019	69	3	5	1462	5	KALRN	3	124053129	Missense_Mutation	SNP	A	TCGA-DU-6404-01A-11D-1705-08		124053129	73969301	3	19727											
ACOX3	8310	broad.mit.edu	37	4	8396382	8396382	+	Nonsense_Mutation	SNP	G	G	A	rs142042116		TCGA-DU-6404-01A-11D-1705-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2b5382c-99ce-4fe0-aafb-4dc893198379	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr4:8396382G>A	ENST00000356406.5	-	10	1221	c.1144C>T	c.(1144-1146)Cga>Tga	p.R382*	ACOX3_ENST00000503233.1_Nonsense_Mutation_p.R382*|ACOX3_ENST00000413009.2_Nonsense_Mutation_p.R382*	NM_003501.2	NP_003492.2	O15254	ACOX3_HUMAN	acyl-CoA oxidase 3, pristanoyl	382					bile acid metabolic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|pristanoyl-CoA oxidase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(17)|prostate(1)|skin(3)|stomach(1)	42						GCAAGTCCTCGCTGGAGCTCC	0.542													16	10					0	0	0.004007	0	0	A	8396382	G	A	8396382	4	1	92	1	0	0	0	0	0	1	0	0	160	1095	38	1	994	1	ACOX3	4	8396382	Nonsense_Mutation	SNP	G	TCGA-DU-6404-01A-11D-1705-08		8396382	182757894	4	19728											
SPP1	6696	broad.mit.edu	37	4	88901213	88901213	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6404-01A-11D-1705-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2b5382c-99ce-4fe0-aafb-4dc893198379	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr4:88901213C>T	ENST00000237623.7	+	4	257	c.109C>T	c.(109-111)Cca>Tca	p.P37S	SPP1_ENST00000395080.3_Missense_Mutation_p.P37S|SPP1_ENST00000509659.1_3'UTR|SPP1_ENST00000360804.4_Intron	NM_000582.2	NP_000573.1	P10451	OSTP_HUMAN	secreted phosphoprotein 1	37					biomineral tissue development|cell adhesion|decidualization|embryo implantation|ossification|response to vitamin D	extracellular space	cytokine activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(3)|skin(1)	13		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-05)		CAACAAATACCCAGATGCTGT	0.363													23	56					0	0	0.00333	0	0	T	88901213	C	T	88901213	3	4	92	1	0	0	0	0	1	0	0	0	15142	623	22	2	119	2	SPP1	4	88901213	Missense_Mutation	SNP	C	TCGA-DU-6404-01A-11D-1705-08	80504831	88901213	102253063	5	19729											
ATG5	9474	broad.mit.edu	37	6	106764059	106764059	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6404-01A-11D-1705-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2b5382c-99ce-4fe0-aafb-4dc893198379	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr6:106764059G>A	ENST00000369076.3	-	2	348	c.25C>T	c.(25-27)Cga>Tga	p.R9*	ATG5_ENST00000369070.1_5'UTR|ATG5_ENST00000360666.4_Nonsense_Mutation_p.R9*|ATG5_ENST00000343245.3_Nonsense_Mutation_p.R9*	NM_004849.2	NP_004840.1	Q9H1Y0	ATG5_HUMAN	autophagy related 5	9					apoptosis|autophagic vacuole assembly|negative regulation of type I interferon production|post-translational protein modification	autophagic vacuole|pre-autophagosomal structure membrane	protein binding			endometrium(1)|large_intestine(5)|lung(1)|prostate(1)	8	Breast(9;0.0296)	all_cancers(87;0.000301)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.0612)|Lung NSC(302;0.216)	BRCA - Breast invasive adenocarcinoma(8;0.00802)	OV - Ovarian serous cystadenocarcinoma(136;0.128)|Epithelial(106;0.159)|all cancers(137;0.18)		CACACATCTCGAAGCACATCT	0.368													42	68					0	0	0.00874	0	0	A	106764059	G	A	106764059	4	1	92	1	0	0	0	0	0	1	0	0	1099	1066	37	1	830	1	ATG5	6	106764059	Nonsense_Mutation	SNP	G	TCGA-DU-6404-01A-11D-1705-08		106764059	64351008	6	19730											
CTSG	1511	broad.mit.edu	37	14	25043508	25043508	+	Silent	SNP	G	G	A			TCGA-DU-6404-01A-11D-1705-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2b5382c-99ce-4fe0-aafb-4dc893198379	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr14:25043508G>A	ENST00000216336.2	-	4	573	c.537C>T	c.(535-537)taC>taT	p.Y179Y		NM_001911.2	NP_001902.1	P08311	CATG_HUMAN	cathepsin G	179	Peptidase S1.				immune response|proteolysis	cell surface|extracellular space|plasma membrane|stored secretory granule	heparin binding|serine-type endopeptidase activity	p.Y179Y(1)		autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(265;0.0269)		TTCGGGGGTCGTAGGAACCGA	0.627													18	19					0	0	0.008871	0	0	A	25043508	G	A	25043508	2	1	92	1	0	0	0	0	0	0	0	1	4059	1140	40	1		1	CTSG	14	25043508	Silent	SNP	G	TCGA-DU-6404-01A-11D-1705-08		25043508	82306032	7	19731											
SLC25A19	60386	broad.mit.edu	37	17	73282427	73282427	+	Silent	SNP	G	G	A			TCGA-DU-6404-01A-11D-1705-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2b5382c-99ce-4fe0-aafb-4dc893198379	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr17:73282427G>A	ENST00000402418.3	-	2	1155	c.246C>T	c.(244-246)caC>caT	p.H82H	SLC25A19_ENST00000416858.2_Silent_p.H82H|SLC25A19_ENST00000320362.3_Silent_p.H82H|SLC25A19_ENST00000375261.4_Silent_p.H82H|SLC25A19_ENST00000580994.1_Silent_p.H82H|SLC25A19_ENST00000442286.2_Silent_p.H82H			Q9HC21	TPC_HUMAN	solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19	82						integral to membrane|mitochondrial inner membrane	binding|deoxynucleotide transmembrane transporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	9	all_cancers(13;5.98e-08)|all_epithelial(9;1.16e-08)|Breast(9;3.1e-08)		all cancers(21;6.82e-07)|Epithelial(20;6.86e-06)			GAGCTGGGACGTGTCCTTTCC	0.592													41	77					0	0	0.006999	0	0	A	73282427	G	A	73282427	2	1	92	1	0	0	0	0	0	0	0	1	14536	1136	40	1		1	SLC25A19	17	73282427	Silent	SNP	G	TCGA-DU-6404-01A-11D-1705-08		73282427	7912783	8	19732											
FPR1	2357	broad.mit.edu	37	19	52250087	52250087	+	Missense_Mutation	SNP	C	C	T	rs145808420		TCGA-DU-6404-01A-11D-1705-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2b5382c-99ce-4fe0-aafb-4dc893198379	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr19:52250087C>T	ENST00000595042.1	-	3	302	c.161G>A	c.(160-162)cGg>cAg	p.R54Q	FPR1_ENST00000304748.4_Missense_Mutation_p.R54Q	NM_001193306.1	NP_001180235.1	P21462	FPR1_HUMAN	formyl peptide receptor 1	54					activation of MAPK activity|cellular component movement|chemotaxis|G-protein signaling, coupled to cAMP nucleotide second messenger|nitric oxide mediated signal transduction	endosome|integral to membrane|plasma membrane	N-formyl peptide receptor activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(3)	20		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00106)|OV - Ovarian serous cystadenocarcinoma(262;0.018)	Nedocromil(DB00716)	GTGTGTCATCCGGAATCCAGC	0.527													18	22					0	0	0.007413	0	0	T	52250087	C	T	52250087	3	4	92	1	0	0	0	0	1	0	0	0	6072	652	23	1	895	1	FPR1	19	52250087	Missense_Mutation	SNP	C	TCGA-DU-6404-01A-11D-1705-08		52250087	6878896	9	19733											
TRO	7216	broad.mit.edu	37	X	54953051	54953051	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6404-01A-11D-1705-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2b5382c-99ce-4fe0-aafb-4dc893198379	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chrX:54953051C>T	ENST00000173898.7	+	9	1805	c.1693C>T	c.(1693-1695)Cgc>Tgc	p.R565C	TRO_ENST00000375022.4_Missense_Mutation_p.R565C|TRO_ENST00000319167.8_Missense_Mutation_p.R565C|TRO_ENST00000399736.1_Missense_Mutation_p.R168C|TRO_ENST00000375041.2_Missense_Mutation_p.R168C|TRO_ENST00000420798.2_Missense_Mutation_p.R96C	NM_001039705.2	NP_001034794.1	Q12816	TROP_HUMAN	trophinin	565	MAGE.				embryo implantation|homophilic cell adhesion	integral to plasma membrane				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						GTTGGGGCTGCGCCCTGGGTA	0.577													52	72					0	0	0.00361	0	0	T	54953051	C	T	54953051	3	4	92	1	0	0	0	0	1	0	0	0	16635	768	27	1	1723	1	TRO	23	54953051	Missense_Mutation	SNP	C	TCGA-DU-6404-01A-11D-1705-08		54953051	100317509	10	19734											
KLHL13	90293	broad.mit.edu	37	X	117043975	117043975	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6404-01A-11D-1705-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2b5382c-99ce-4fe0-aafb-4dc893198379	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chrX:117043975C>T	ENST00000371876.1	-	4	2923	c.502G>A	c.(502-504)Gtc>Atc	p.V168I	KLHL13_ENST00000371878.1_Missense_Mutation_p.V168I|KLHL13_ENST00000545703.1_Missense_Mutation_p.V177I|KLHL13_ENST00000469946.1_Missense_Mutation_p.V168I|KLHL13_ENST00000262820.3_Missense_Mutation_p.V219I|KLHL13_ENST00000371882.1_Missense_Mutation_p.V168I|KLHL13_ENST00000540167.1_Missense_Mutation_p.V203I|KLHL13_ENST00000541812.1_Missense_Mutation_p.V203I|KLHL13_ENST00000539496.1_Missense_Mutation_p.V222I			Q9P2N7	KLH13_HUMAN	kelch-like family member 13	219					cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						TTCTTCAAGACGAAACTGTTA	0.423													20	116					0	0	0.012319	0	0	T	117043975	C	T	117043975	3	4	92	1	0	0	0	0	1	0	0	0	8412	536	19	1	1324	1	KLHL13	23	117043975	Missense_Mutation	SNP	C	TCGA-DU-6404-01A-11D-1705-08	62090924	117043975	38226585	11	19735											
G6PD	2539	broad.mit.edu	37	X	153761826	153761826	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6404-01A-11D-1705-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2b5382c-99ce-4fe0-aafb-4dc893198379	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chrX:153761826C>T	ENST00000393562.2	-	8	1302	c.919G>A	c.(919-921)Gcc>Acc	p.A307T	G6PD_ENST00000393564.2_Missense_Mutation_p.A277T|G6PD_ENST00000369620.2_Missense_Mutation_p.A323T	NM_000402.3	NP_000393.4	P11413	G6PD_HUMAN	glucose-6-phosphate dehydrogenase	277					cellular response to oxidative stress|cholesterol biosynthetic process|cytokine production|erythrocyte maturation|glucose 6-phosphate metabolic process|glutathione metabolic process|negative regulation of protein glutathionylation|pentose-phosphate shunt, oxidative branch|ribose phosphate biosynthetic process	centrosome|cytosol|internal side of plasma membrane|intracellular membrane-bounded organelle	glucose binding|glucose-6-phosphate dehydrogenase activity|NADP binding|protein homodimerization activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(3)|ovary(4)	18	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TTGGTGGAGGCGGGCTTCTCC	0.637													4	31					0	0	0.009096	0	0	T	153761826	C	T	153761826	3	4	92	1	0	0	0	0	1	0	0	0	6181	768	27	1	742	1	G6PD	23	153761826	Missense_Mutation	SNP	C	TCGA-DU-6404-01A-11D-1705-08	36717851	153761826	1508734	12	19736											
OTUD3	23252	broad.mit.edu	37	1	20216922	20216923	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr1:20216922_20216923insA	ENST00000375120.3	+	2	267_268	c.266_267insA	c.(265-270)tcacgafs	p.R90fs		NM_015207.1	NP_056022.1	Q5T2D3	OTUD3_HUMAN	OTU domain containing 3	90	OTU.									breast(1)|kidney(2)|large_intestine(4)|lung(1)|skin(1)	9		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000276)|Lung NSC(340;0.000338)|Breast(348;0.000812)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.12e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000142)|Kidney(64;0.000177)|GBM - Glioblastoma multiforme(114;0.000408)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GAGGGACACTCACGAAATCATC	0.416													86	48	---	---	---	---						A	20216923	-	A	20216922	7	5	93	1	0	1	1	0	0	0	0	0	11360	838	29	0	272	0	OTUD3	1	20216922	Frame_Shift_Ins	INS	-	TCGA-DU-6405-01A-11D-1705-08		20216922	229033699	1	19737											
MYOM3	127294	broad.mit.edu	37	1	24387556	24387556	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr1:24387556C>T	ENST00000330966.7	-	35	4159	c.3997G>A	c.(3997-3999)Gag>Aag	p.E1333K	RP11-293P20.2_ENST00000439239.2_RNA|MYOM3_ENST00000338909.5_Missense_Mutation_p.E223K|MYOM3_ENST00000374434.3_Missense_Mutation_p.E1330K			Q5VTT5	MYOM3_HUMAN	myomesin 3	1330										NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		TTACTCTTCTCGATGATGGCC	0.488													14	36					0	0	0.479597	0	0	T	24387556	C	T	24387556	3	4	93	1	0	0	0	0	1	0	0	0	10141	893	31	1	337	1	MYOM3	1	24387556	Missense_Mutation	SNP	C	TCGA-DU-6405-01A-11D-1705-08	4170634	24387556	224863065	2	19738											
LINGO4	339398	broad.mit.edu	37	1	151774674	151774674	+	Silent	SNP	T	T	C			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr1:151774674T>C	ENST00000368820.3	-	2	1444	c.507A>G	c.(505-507)gtA>gtG	p.V169V		NM_001004432.2	NP_001004432.1	Q6UY18	LIGO4_HUMAN	leucine rich repeat and Ig domain containing 4	169						integral to membrane				breast(2)|cervix(1)|endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			GAGCCACAAATACCAGGTGGT	0.607													3	70					0	0	0.115264	0	0	C	151774674	T	C	151774674	2	2	93	1	0	0	0	0	0	0	0	1	8858	1393	49	3		3	LINGO4	1	151774674	Silent	SNP	T	TCGA-DU-6405-01A-11D-1705-08	127387118	151774674	97475947	3	19739											
OLFML2B	25903	broad.mit.edu	37	1	161967984	161967984	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr1:161967984C>T	ENST00000294794.3	-	6	1528	c.1105G>A	c.(1105-1107)Gca>Aca	p.A369T	OLFML2B_ENST00000367940.2_Missense_Mutation_p.A370T	NM_015441.1	NP_056256.1	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B	369								p.A369T(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			GACCAGGGTGCGGTCCGAGCG	0.627													66	98					0	0	0.870114	0	0	T	161967984	C	T	161967984	3	4	93	1	0	0	0	0	1	0	0	0	10906	768	27	1	1159	1	OLFML2B	1	161967984	Missense_Mutation	SNP	C	TCGA-DU-6405-01A-11D-1705-08	10193310	161967984	87282637	4	19740											
TPO	7173	broad.mit.edu	37	2	1459909	1459909	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr2:1459909G>A	ENST00000345913.4	+	7	765	c.674G>A	c.(673-675)cGc>cAc	p.R225H	TPO_ENST00000346956.3_Missense_Mutation_p.R225H|TPO_ENST00000497517.2_Intron|TPO_ENST00000337415.3_Missense_Mutation_p.R225H|TPO_ENST00000329066.4_Missense_Mutation_p.R225H|TPO_ENST00000349624.3_Missense_Mutation_p.R225H|TPO_ENST00000382201.3_Missense_Mutation_p.R225H|TPO_ENST00000382198.1_Missense_Mutation_p.R225H	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	225					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	GATGATGACCGCTATTCTGAC	0.537													22	22					0	0	0.654019	0	0	A	1459909	G	A	1459909	3	1	93	1	0	0	0	0	1	0	0	0	16471	1087	38	1	696	1	TPO	2	1459909	Missense_Mutation	SNP	G	TCGA-DU-6405-01A-11D-1705-08		1459909	241739464	5	19741											
ITGA4	3676	broad.mit.edu	37	2	182396426	182396426	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr2:182396426A>G	ENST00000397033.2	+	25	3137	c.2707A>G	c.(2707-2709)Aat>Gat	p.N903D		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	903					blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	TTTCTTGTGTAATTTTGGGAA	0.323													32	48					0	0	0.769981	0	0	G	182396426	A	G	182396426	3	3	93	1	0	0	0	0	1	0	0	0	7922	362	13	3	2805	3	ITGA4	2	182396426	Missense_Mutation	SNP	A	TCGA-DU-6405-01A-11D-1705-08	180936517	182396426	60802947	6	19742											
HSPD1	3329	broad.mit.edu	37	2	198353171	198353174	+	Frame_Shift_Del	DEL	TCTG	TCTG	-			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr2:198353171_198353174delTCTG	ENST00000388968.3	-	10	1524_1527	c.1257_1260delCAGA	c.(1255-1260)gacagafs	p.DR419fs	HSPD1_ENST00000345042.2_Frame_Shift_Del_p.DR419fs	NM_002156.4	NP_002147.2	P10809	CH60_HUMAN	heat shock 60kDa protein 1 (chaperonin)	419					'de novo' protein folding|activation of caspase activity|B cell cytokine production|B cell proliferation|chaperone-mediated protein complex assembly|interspecies interaction between organisms|isotype switching to IgG isotypes|MyD88-dependent toll-like receptor signaling pathway|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of interferon-alpha production|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of macrophage activation|positive regulation of T cell activation|positive regulation of T cell mediated immune response to tumor cell|protein maturation|protein refolding|protein stabilization|response to unfolded protein|T cell activation	cell surface|coated pit|coated vesicle|cytosol|early endosome|extracellular space|lipopolysaccharide receptor complex|mitochondrial inner membrane|mitochondrial matrix|stored secretory granule	ATP binding|ATPase activity|cell surface binding|chaperone binding|DNA replication origin binding|lipopolysaccharide binding|p53 binding|single-stranded DNA binding			NS(1)|breast(3)|endometrium(2)|large_intestine(3)|lung(7)|skin(1)	17			Epithelial(96;0.225)			CATCTGTAACTCTGTCTTTCTTTT	0.441													57	87	---	---	---	---						-	198353174	TCTG	-	198353171	7	5	93	1	0	1	0	1	0	0	0	0	7472	1548	54	0	473	0	HSPD1	2	198353171	Frame_Shift_Del	DEL	TCTG	TCGA-DU-6405-01A-11D-1705-08	15956745	198353171	44846202	7	19743											
ALPPL2	251	broad.mit.edu	37	2	233273520	233273520	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr2:233273520C>A	ENST00000295453.3	+	8	1015	c.963C>A	c.(961-963)aaC>aaA	p.N321K		NM_031313.2	NP_112603.2	P10696	PPBN_HUMAN	alkaline phosphatase, placental-like 2	321					phosphorylation	anchored to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			breast(2)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(1)	13		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	Amifostine(DB01143)|Levamisole(DB00848)	TGAGCAGGAACCCCCGCGGCT	0.642													6	1					0.0381472	0.0386492	0.27861	1	0	A	233273520	C	A	233273520	3	1	93	1	0	0	0	0	1	0	0	0	545	506	18	5	993	5	ALPPL2	2	233273520	Missense_Mutation	SNP	C	TCGA-DU-6405-01A-11D-1705-08	34920349	233273520	9925853	8	19744											
GIGYF2	26058	broad.mit.edu	37	2	233674460	233674460	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr2:233674460C>T	ENST00000373566.3	+	17	2100	c.1903C>T	c.(1903-1905)Cag>Tag	p.Q635*	GIGYF2_ENST00000409451.3_Nonsense_Mutation_p.Q634*|GIGYF2_ENST00000409547.1_Nonsense_Mutation_p.Q613*|GIGYF2_ENST00000409196.3_Nonsense_Mutation_p.Q607*|GIGYF2_ENST00000452341.2_Nonsense_Mutation_p.Q444*|GIGYF2_ENST00000373563.4_Nonsense_Mutation_p.Q613*|GIGYF2_ENST00000409480.1_Nonsense_Mutation_p.Q635*			Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	613	Gln-rich.				cell death		protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		ACTGACCAGGCAGCAAGAACT	0.433													16	51					0	0	0.539581	0	0	T	233674460	C	T	233674460	4	4	93	1	0	0	0	0	0	1	0	0	6420	711	25	2	1961	2	GIGYF2	2	233674460	Nonsense_Mutation	SNP	C	TCGA-DU-6405-01A-11D-1705-08	400940	233674460	9524913	9	19745											
ASB1	51665	broad.mit.edu	37	2	239344637	239344637	+	Silent	SNP	C	C	A			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr2:239344637C>A	ENST00000264607.4	+	3	724	c.477C>A	c.(475-477)atC>atA	p.I159I	ASB1_ENST00000409297.1_Intron	NM_001040445.1	NP_001035535.1	Q9Y576	ASB1_HUMAN	ankyrin repeat and SOCS box containing 1	159					intracellular signal transduction|negative regulation of cytokine biosynthetic process					breast(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	8		all_epithelial(40;2.65e-14)|Breast(86;7.61e-05)|Renal(207;0.00183)|all_lung(227;0.0283)|Ovarian(221;0.0365)|Lung NSC(271;0.0941)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;2.04e-26)|OV - Ovarian serous cystadenocarcinoma(60;4.5e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.88e-05)|Lung(119;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00644)		GGGCAGACATCCTGAAGGCCC	0.567													6	8					0.0293803	0.0301638	0.248553	1	0	A	239344637	C	A	239344637	2	1	93	1	0	0	0	0	0	0	0	1	1012	845	30	5		5	ASB1	2	239344637	Silent	SNP	C	TCGA-DU-6405-01A-11D-1705-08	5670177	239344637	3854736	10	19746											
FGD5	152273	broad.mit.edu	37	3	14862336	14862336	+	Silent	SNP	G	G	A			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr3:14862336G>A	ENST00000285046.5	+	1	1868	c.1758G>A	c.(1756-1758)tcG>tcA	p.S586S	FGD5_ENST00000543601.1_Silent_p.S345S	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	586					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						TCTCTCTGTCGTGTGTAATTG	0.557													17	24					0	0	0.539581	0	0	A	14862336	G	A	14862336	2	1	93	1	0	0	0	0	0	0	0	1	5869	1132	40	1		1	FGD5	3	14862336	Silent	SNP	G	TCGA-DU-6405-01A-11D-1705-08		14862336	183160094	11	19747											
WDR6	11180	broad.mit.edu	37	3	49049692	49049692	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr3:49049692G>A	ENST00000395474.3	+	2	1095	c.815G>A	c.(814-816)cGa>cAa	p.R272Q	WDR6_ENST00000489684.1_3'UTR|WDR6_ENST00000415265.2_Intron|WDR6_ENST00000608424.1_Missense_Mutation_p.R242Q|WDR6_ENST00000448293.1_Missense_Mutation_p.R191Q	NM_018031.3	NP_060501.3	Q9NNW5	WDR6_HUMAN	WD repeat domain 6	242					cell cycle arrest|negative regulation of cell proliferation	cytoplasm				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26				Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155)		GGCGACCTGCGAGTGCCTGGG	0.552													44	64					0	0	0.870114	0	0	A	49049692	G	A	49049692	3	1	93	1	0	0	0	0	1	0	0	0	17370	1058	37	1	821	1	WDR6	3	49049692	Missense_Mutation	SNP	G	TCGA-DU-6405-01A-11D-1705-08	34187356	49049692	148972738	12	19748											
HEG1	57493	broad.mit.edu	37	3	124692589	124692589	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr3:124692589C>A	ENST00000311127.4	-	16	4049	c.3982G>T	c.(3982-3984)Gat>Tat	p.D1328Y		NM_020733.1	NP_065784.1	Q9ULI3	HEG1_HUMAN	heart development protein with EGF-like domains 1	1328						extracellular region|integral to membrane	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4)	47						TAGTACACATCCGTCATCTGG	0.463													14	26					0.00316338	0.00329162	0.479597	1	0	A	124692589	C	A	124692589	3	1	93	1	0	0	0	0	1	0	0	0	7085	855	30	5	171	5	HEG1	3	124692589	Missense_Mutation	SNP	C	TCGA-DU-6405-01A-11D-1705-08	75642897	124692589	73329841	13	19749											
SI	6476	broad.mit.edu	37	3	164741401	164741401	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr3:164741401C>T	ENST00000264382.3	-	26	3118	c.3056G>A	c.(3055-3057)cGt>cAt	p.R1019H		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1019	Sucrase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	CACCTCCACACGAAGAGTTGA	0.388										HNSCC(35;0.089)			27	56					0	0	0.706142	0	0	T	164741401	C	T	164741401	3	4	93	1	0	0	0	0	1	0	0	0	14352	536	19	1	2519	1	SI	3	164741401	Missense_Mutation	SNP	C	TCGA-DU-6405-01A-11D-1705-08	40048812	164741401	33281029	14	19750											
PIK3CA	5290	broad.mit.edu	37	3	178917478	178917478	+	Splice_Site	SNP	G	G	A			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr3:178917478G>A	ENST00000263967.3	+	3	510	c.353G>A	c.(352-354)gGt>gAt	p.G118D		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	118					epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.G118D(26)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TTTATTAAAGGTTTTGCTATC	0.338		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			23	61					0	0	0.624587	0	0	A	178917478	G	A	178917478	5	1	93	1	0	0	0	0	0	0	1	0	11961	1275	44	2	359	2	PIK3CA	3	178917478	Splice_Site	SNP	G	TCGA-DU-6405-01A-11D-1705-08	14176077	178917478	19104952	15	19751											
RNF150	57484	broad.mit.edu	37	4	141888953	141888953	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr4:141888953T>C	ENST00000515673.2	-	2	592	c.559A>G	c.(559-561)Atc>Gtc	p.I187V	RNF150_ENST00000507500.1_Missense_Mutation_p.I187V|RNF150_ENST00000515057.1_5'UTR|RNF150_ENST00000306799.3_Missense_Mutation_p.I187V|RNF150_ENST00000379512.2_Missense_Mutation_p.I46V|RNF150_ENST00000420921.2_Missense_Mutation_p.I46V			Q9ULK6	RN150_HUMAN	ring finger protein 150							integral to membrane	zinc ion binding			breast(1)|large_intestine(10)|lung(7)|ovary(1)	19	all_hematologic(180;0.162)					GTCACGGTGATGTTTCTTTCC	0.488													27	126					0	0	0.717897	0	0	C	141888953	T	C	141888953	3	2	93	1	0	0	0	0	1	0	0	0	13503	1464	51	3	781	3	RNF150	4	141888953	Missense_Mutation	SNP	T	TCGA-DU-6405-01A-11D-1705-08		141888953	49265323	16	19752											
MND1	84057	broad.mit.edu	37	4	154335914	154335914	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr4:154335914G>A	ENST00000240488.3	+	8	612	c.523G>A	c.(523-525)Gca>Aca	p.A175T		NM_001253861.1|NM_032117.3	NP_001240790.1|NP_115493.1	Q9BWT6	MND1_HUMAN	meiotic nuclear divisions 1 homolog (S. cerevisiae)	175					DNA recombination|meiosis	nucleus	DNA binding			large_intestine(2)|lung(1)	3	all_hematologic(180;0.093)					TAACATATTCGCAATAAAATC	0.249													14	24					0	0	0.457914	0	0	A	154335914	G	A	154335914	3	1	93	1	0	0	0	0	1	0	0	0	9724	1087	38	1	553	1	MND1	4	154335914	Missense_Mutation	SNP	G	TCGA-DU-6405-01A-11D-1705-08	12446961	154335914	36818362	17	19753											
TRIML1	339976	broad.mit.edu	37	4	189068521	189068521	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr4:189068521G>A	ENST00000332517.3	+	6	1542	c.1402G>A	c.(1402-1404)Gtc>Atc	p.V468I	TRIML1_ENST00000507581.1_3'UTR	NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	468	B30.2/SPRY.				multicellular organismal development		ligase activity|zinc ion binding			NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		GAACAGCCACGTCTGAGGGGC	0.542													21	29					0	0	0.740014	0	0	A	189068521	G	A	189068521	3	1	93	1	0	0	0	0	1	0	0	0	16611	1145	40	1	1424	1	TRIML1	4	189068521	Missense_Mutation	SNP	G	TCGA-DU-6405-01A-11D-1705-08	34732607	189068521	2085755	18	19754											
ADAMTS16	170690	broad.mit.edu	37	5	5237184	5237184	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr5:5237184G>A	ENST00000274181.7	+	14	2264	c.2126G>A	c.(2125-2127)cGt>cAt	p.R709H	ADAMTS16_ENST00000513709.1_Intron	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	709	Cys-rich.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						GAGGATAGCCGTAATGTTTGT	0.403													42	52					0	0	0.834066	0	0	A	5237184	G	A	5237184	3	1	93	1	0	0	0	0	1	0	0	0	260	1145	40	1	2180	1	ADAMTS16	5	5237184	Missense_Mutation	SNP	G	TCGA-DU-6405-01A-11D-1705-08		5237184	175678076	19	19755											
CDH6	1004	broad.mit.edu	37	5	31323148	31323148	+	Silent	SNP	G	G	T			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr5:31323148G>T	ENST00000265071.2	+	12	2371	c.2106G>T	c.(2104-2106)cgG>cgT	p.R702R		NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	702					adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						TACCCCGACGGACTCCAACAG	0.522													15	24					2.62699e-14	2.97468e-14	0.479597	1	0	T	31323148	G	T	31323148	2	4	93	1	0	0	0	0	0	0	0	1	3136	1161	41	5		5	CDH6	5	31323148	Silent	SNP	G	TCGA-DU-6405-01A-11D-1705-08	26085964	31323148	149592112	20	19756											
HCN1	348980	broad.mit.edu	37	5	45267295	45267295	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr5:45267295C>T	ENST00000303230.4	-	7	1736	c.1679G>A	c.(1678-1680)cGt>cAt	p.R560H		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	560						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						TGAGTAAAGACGACAATATGT	0.433													43	76					0	0	0.859065	0	0	T	45267295	C	T	45267295	3	4	93	1	0	0	0	0	1	0	0	0	7037	536	19	1	1001	1	HCN1	5	45267295	Missense_Mutation	SNP	C	TCGA-DU-6405-01A-11D-1705-08	13944147	45267295	135647965	21	19757											
HSPB3	8988	broad.mit.edu	37	5	53751847	53751847	+	Silent	SNP	C	C	T			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr5:53751847C>T	ENST00000302005.1	+	1	403	c.228C>T	c.(226-228)gaC>gaT	p.D76D		NM_006308.2	NP_006299.1	Q12988	HSPB3_HUMAN	heat shock 27kDa protein 3	76					cell death|response to heat|response to unfolded protein	cytoplasm|nucleus				breast(1)|large_intestine(4)|prostate(3)	8		Lung NSC(810;0.00104)				TCCTGCTGGACGTGGTCCAGT	0.547													22	40					0	0	0.624587	0	0	T	53751847	C	T	53751847	2	4	93	1	0	0	0	0	0	0	0	1	7464	535	19	1		1	HSPB3	5	53751847	Silent	SNP	C	TCGA-DU-6405-01A-11D-1705-08	8484552	53751847	127163413	22	19758											
GRXCR2	643226	broad.mit.edu	37	5	145252495	145252495	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr5:145252495C>T	ENST00000377976.1	-	1	36	c.37G>A	c.(37-39)Gat>Aat	p.D13N		NM_001080516.1	NP_001073985.1	A6NFK2	GRCR2_HUMAN	glutaredoxin, cysteine rich 2	13										breast(1)|endometrium(1)|large_intestine(2)|lung(1)|urinary_tract(2)	7						GGTTTGCCATCACTCTTCTGA	0.507													46	74					0	0	0.870114	0	0	T	145252495	C	T	145252495	3	4	93	1	0	0	0	0	1	0	0	0	6854	826	29	2	721	2	GRXCR2	5	145252495	Missense_Mutation	SNP	C	TCGA-DU-6405-01A-11D-1705-08	91500648	145252495	35662765	23	19759											
SGCD	6444	broad.mit.edu	37	5	155771587	155771587	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr5:155771587G>A	ENST00000435422.3	+	2	576	c.89G>A	c.(88-90)cGg>cAg	p.R30Q	SGCD_ENST00000447401.1_Missense_Mutation_p.R31Q|SGCD_ENST00000337851.4_Missense_Mutation_p.R31Q|SGCD_ENST00000517913.1_Missense_Mutation_p.R31Q	NM_001128209.1	NP_001121681.1	Q92629	SGCD_HUMAN	sarcoglycan, delta (35kDa dystrophin-associated glycoprotein)	30					cytoskeleton organization|muscle organ development	cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|prostate(1)	24	Renal(175;0.00488)	Medulloblastoma(196;0.0378)|all_neural(177;0.106)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TATGGCTGGCGGAAACGATGC	0.483													37	39					0	0	0.796494	0	0	A	155771587	G	A	155771587	3	1	93	1	0	0	0	0	1	0	0	0	14255	1116	39	1	98	1	SGCD	5	155771587	Missense_Mutation	SNP	G	TCGA-DU-6405-01A-11D-1705-08	10519092	155771587	25143673	24	19760											
FAM153B	202134	broad.mit.edu	37	5	175526032	175526032	+	Silent	SNP	A	A	G			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr5:175526032A>G	ENST00000253490.4	+	10	603	c.546A>G	c.(544-546)acA>acG	p.T182T	FAM153B_ENST00000510151.1_Silent_p.T105T|FAM153B_ENST00000512862.1_Intron|FAM153B_ENST00000515817.1_Silent_p.T105T			P0C7A2	F153B_HUMAN	family with sequence similarity 153, member B	182										endometrium(3)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	16	all_cancers(89;0.00406)|Renal(175;0.000269)|Lung NSC(126;0.0103)|all_lung(126;0.0164)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Kidney(146;0.0965)		AGGCAGACACAGGCATCCAAA	0.438													3	117					0	0	0.150653	0	0	G	175526032	A	G	175526032	2	3	93	1	0	0	0	0	0	0	0	1	5491	175	7	3		3	FAM153B	5	175526032	Silent	SNP	A	TCGA-DU-6405-01A-11D-1705-08	19754445	175526032	5389228	25	19761											
DSP	1832	broad.mit.edu	37	6	7585482	7585482	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr6:7585482C>T	ENST00000379802.3	+	24	8328	c.7987C>T	c.(7987-7989)Cca>Tca	p.P2663S	DSP_ENST00000418664.2_Missense_Mutation_p.P2064S	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	2663	Globular 2.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		CATCATCCACCCAACCACGGG	0.562													4	111					0	0	0.150653	0	0	T	7585482	C	T	7585482	3	4	93	1	0	0	0	0	1	0	0	0	4807	623	22	2	8081	2	DSP	6	7585482	Missense_Mutation	SNP	C	TCGA-DU-6405-01A-11D-1705-08		7585482	163529585	26	19762											
GPR110	266977	broad.mit.edu	37	6	46996743	46996743	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr6:46996743C>T	ENST00000371253.2	-	2	270	c.55G>A	c.(55-57)Ggt>Agt	p.G19S	GPR110_ENST00000449332.2_5'UTR|GPR110_ENST00000371243.2_Missense_Mutation_p.G19S	NM_153840.2	NP_722582.2	Q5T601	GP110_HUMAN	G protein-coupled receptor 110	19					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	29						AGGAAGCCACCGTGGCCGTCA	0.512													18	24					0	0	0.608945	0	0	T	46996743	C	T	46996743	3	4	93	1	0	0	0	0	1	0	0	0	6667	652	23	1	2783	1	GPR110	6	46996743	Missense_Mutation	SNP	C	TCGA-DU-6405-01A-11D-1705-08	39411261	46996743	124118324	27	19763											
OPN5	221391	broad.mit.edu	37	6	47754301	47754301	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr6:47754301C>T	ENST00000489301.2	+	2	266	c.181C>T	c.(181-183)Cga>Tga	p.R61*	OPN5_ENST00000371211.2_Nonsense_Mutation_p.R61*|OPN5_ENST00000393699.2_Nonsense_Mutation_p.R61*			Q6U736	OPN5_HUMAN	opsin 5	61					phototransduction|protein-chromophore linkage|visual perception	integral to membrane	G-protein coupled receptor activity|photoreceptor activity			endometrium(1)|large_intestine(3)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	29						GTCTTCTAGACGAAAGAAGAA	0.378													39	32					0	0	0.834066	0	0	T	47754301	C	T	47754301	4	4	93	1	0	0	0	0	0	1	0	0	10931	528	19	1	187	1	OPN5	6	47754301	Nonsense_Mutation	SNP	C	TCGA-DU-6405-01A-11D-1705-08	757558	47754301	123360766	28	19764											
SLC35D3	340146	broad.mit.edu	37	6	137245387	137245387	+	Silent	SNP	G	G	T			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr6:137245387G>T	ENST00000331858.4	+	2	969	c.804G>T	c.(802-804)acG>acT	p.T268T		NM_001008783.1	NP_001008783.1	Q5M8T2	S35D3_HUMAN	solute carrier family 35, member D3	268					carbohydrate transport	integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	13	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000136)|OV - Ovarian serous cystadenocarcinoma(155;0.00365)		CCACCATCACGGTGGGCATGG	0.592													21	3					1.01871e-10	1.1048e-10	0.575678	1	0	T	137245387	G	T	137245387	2	4	93	1	0	0	0	0	0	0	0	1	14638	1103	39	5		5	SLC35D3	6	137245387	Silent	SNP	G	TCGA-DU-6405-01A-11D-1705-08	89491086	137245387	33869680	29	19765	104	2									
SLC35D3	340146	broad.mit.edu	37	6	137245388	137245388	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr6:137245388G>T	ENST00000331858.4	+	2	970	c.805G>T	c.(805-807)Gtg>Ttg	p.V269L		NM_001008783.1	NP_001008783.1	Q5M8T2	S35D3_HUMAN	solute carrier family 35, member D3	269					carbohydrate transport	integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	13	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000136)|OV - Ovarian serous cystadenocarcinoma(155;0.00365)		CACCATCACGGTGGGCATGGT	0.592													21	3					1.01871e-10	1.1048e-10	0.575678	1	0	T	137245388	G	T	137245388	3	4	93	1	0	0	0	0	1	0	0	0	14638	1261	44	5	811	5	SLC35D3	6	137245388	Missense_Mutation	SNP	G	TCGA-DU-6405-01A-11D-1705-08	1	137245388	33869679	30	19766	104	2									
PHTF2	57157	broad.mit.edu	37	7	77569563	77569564	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr7:77569563_77569564delTC	ENST00000416283.2	+	12	1708_1709	c.1582_1583delTC	c.(1582-1584)tctfs	p.S528fs	PHTF2_ENST00000275575.7_Frame_Shift_Del_p.S524fs|PHTF2_ENST00000422959.2_Frame_Shift_Del_p.S528fs|PHTF2_ENST00000424760.1_Frame_Shift_Del_p.S524fs|PHTF2_ENST00000307305.8_Frame_Shift_Del_p.S524fs|PHTF2_ENST00000248550.7_Frame_Shift_Del_p.S562fs	NM_001127357.1|NM_020432.4	NP_001120829.1|NP_065165.3	Q8N3S3	PHTF2_HUMAN	putative homeodomain transcription factor 2	562					regulation of transcription, DNA-dependent|transcription, DNA-dependent	endoplasmic reticulum|nucleus	DNA binding			endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	19						GGTTCGCGTGTCTCTTGTGTGG	0.342													47	170	---	---	---	---						-	77569564	TC	-	77569563	7	5	93	1	0	1	0	1	0	0	0	0	11911	1667	58	0	1682	0	PHTF2	7	77569563	Frame_Shift_Del	DEL	TC	TCGA-DU-6405-01A-11D-1705-08		77569563	81569100	31	19767											
ABCB1	5243	broad.mit.edu	37	7	87178715	87178715	+	Silent	SNP	C	C	T	rs56871767		TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr7:87178715C>T	ENST00000265724.3	-	15	2091	c.1674G>A	c.(1672-1674)acG>acA	p.T558T	ABCB1_ENST00000543898.1_Silent_p.T494T	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	558	ABC transporter 1.				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	CCAAGGCTGACGTGGCCTCAT	0.537													27	50					0	0	0.706142	0	0	T	87178715	C	T	87178715	2	4	93	1	0	0	0	0	0	0	0	1	40	523	19	1		1	ABCB1	7	87178715	Silent	SNP	C	TCGA-DU-6405-01A-11D-1705-08	9609152	87178715	71959948	32	19768											
DOCK5	80005	broad.mit.edu	37	8	25216578	25216578	+	Splice_Site	SNP	G	G	A			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr8:25216578G>A	ENST00000276440.7	+	28	2993		c.e28+1			NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5							cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		AGACATCATCGTAAGTTGCCT	0.458													56	68					0	0	0.870114	0	0	A	25216578	G	A	25216578	5	1	93	1	0	0	0	0	0	0	1	0	4717	1159	40	1	3060	1	DOCK5	8	25216578	Splice_Site	SNP	G	TCGA-DU-6405-01A-11D-1705-08		25216578	121147444	33	19769											
RIMS2	9699	broad.mit.edu	37	8	104898359	104898359	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr8:104898359C>T	ENST00000507740.1	+	2	1192	c.956C>T	c.(955-957)tCg>tTg	p.S319L	RIMS2_ENST00000436393.2_Missense_Mutation_p.S289L|RIMS2_ENST00000406091.3_Missense_Mutation_p.S511L|RIMS2_ENST00000262231.10_Missense_Mutation_p.S319L	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	542					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	p.S289L(1)|p.S547L(1)|p.S319L(1)		NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			CGCCAGATTTCGTTGAGCAGT	0.428										HNSCC(12;0.0054)			25	35					0	0	0.667858	0	0	T	104898359	C	T	104898359	3	4	93	1	0	0	0	0	1	0	0	0	13420	893	31	1	1672	1	RIMS2	8	104898359	Missense_Mutation	SNP	C	TCGA-DU-6405-01A-11D-1705-08	79681781	104898359	41465663	34	19770											
TYRP1	7306	broad.mit.edu	37	9	12708029	12708029	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr9:12708029A>G	ENST00000388918.5	+	7	1423	c.1294A>G	c.(1294-1296)Att>Gtt	p.I432V	TYRP1_ENST00000381137.2_Missense_Mutation_p.I141V|TYRP1_ENST00000381136.2_Missense_Mutation_p.I142V|RP11-3L8.3_ENST00000417638.1_RNA|TYRP1_ENST00000473504.1_3'UTR	NM_000550.2	NP_000541.1	P17643	TYRP1_HUMAN	tyrosinase-related protein 1	432					melanin biosynthetic process	clathrin-coated endocytic vesicle membrane|endosome membrane|integral to membrane|melanosome membrane	copper ion binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, another compound as one donor, and incorporation of one atom of oxygen|protein heterodimerization activity|protein homodimerization activity			NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|stomach(1)	22		all_cancers(3;3.1e-05)|all_lung(3;1.7e-06)|Lung NSC(3;2.09e-06)|all_epithelial(3;0.000695)|all_hematologic(3;0.0033)|Acute lymphoblastic leukemia(23;0.0744)		GBM - Glioblastoma multiforme(50;9.85e-06)		AAATGCCCCTATTGGACATAA	0.348									Oculocutaneous Albinism				13	1					0	0	0.500413	0	0	G	12708029	A	G	12708029	3	3	93	1	0	0	0	0	1	0	0	0	16878	449	16	3	1316	3	TYRP1	9	12708029	Missense_Mutation	SNP	A	TCGA-DU-6405-01A-11D-1705-08		12708029	128505402	35	19771											
ZNF484	83744	broad.mit.edu	37	9	95610417	95610417	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr9:95610417T>C	ENST00000395505.2	-	3	636	c.544A>G	c.(544-546)Aca>Gca	p.T182A	ANKRD19P_ENST00000473204.1_RNA|ZNF484_ENST00000332591.6_Missense_Mutation_p.T182A|ZNF484_ENST00000395506.3_Missense_Mutation_p.T220A|ZNF484_ENST00000375495.3_Missense_Mutation_p.T218A	NM_001261459.1|NM_001261460.1	NP_001248388.1|NP_001248389.1	Q5JVG2	ZN484_HUMAN	zinc finger protein 484	218					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|kidney(8)|large_intestine(10)|lung(10)|prostate(2)	33						GTCACTTCTGTATGAGAATTC	0.353													28	84					0	0	0.706142	0	0	C	95610417	T	C	95610417	3	2	93	1	0	0	0	0	1	0	0	0	17994	1638	57	3	1910	3	ZNF484	9	95610417	Missense_Mutation	SNP	T	TCGA-DU-6405-01A-11D-1705-08	82902388	95610417	45603014	36	19772											
LPPR1	54886	broad.mit.edu	37	9	104086328	104086328	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr9:104086328G>A	ENST00000374874.3	+	8	1406	c.967G>A	c.(967-969)Gaa>Aaa	p.E323K	LPPR1_ENST00000395056.2_Missense_Mutation_p.E323K	NM_207299.1	NP_997182.1	Q8TBJ4	LPPR1_HUMAN		323						integral to membrane	catalytic activity										GTCCATGACCGAAGTTACCTG	0.418													15	24					0	0	0.500413	0	0	A	104086328	G	A	104086328	3	1	93	1	0	0	0	0	1	0	0	0	8969	1059	37	1	993	1	LPPR1	9	104086328	Missense_Mutation	SNP	G	TCGA-DU-6405-01A-11D-1705-08	8475911	104086328	37127103	37	19773											
SLC46A2	57864	broad.mit.edu	37	9	115648895	115648895	+	Splice_Site	SNP	T	T	G			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr9:115648895T>G	ENST00000374228.4	-	3	1446	c.1215A>C	c.(1213-1215)ggA>ggC	p.G405G		NM_033051.3	NP_149040.3	Q9BY10	TSCOT_HUMAN	solute carrier family 46, member 2	405						integral to membrane|plasma membrane	symporter activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(1)	18						CGAACACCTTTCCTGTGGAAG	0.542													20	37					0	0	0.575678	0	0	G	115648895	T	G	115648895	5	3	93	1	0	0	0	0	0	0	1	0	14700	1797	62	5	220	5	SLC46A2	9	115648895	Splice_Site	SNP	T	TCGA-DU-6405-01A-11D-1705-08	11562567	115648895	25564536	38	19774											
HBE1	3046	broad.mit.edu	37	11	5291062	5291062	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr11:5291062T>C	ENST00000380237.1	-	3	403	c.59A>G	c.(58-60)aAt>aGt	p.N20S	HBE1_ENST00000292896.2_Missense_Mutation_p.N20S|HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron			P02100	HBE_HUMAN	hemoglobin, epsilon 1	20					blood coagulation	hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|skin(1)	20		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.34e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTCTTCCACATTCATCTTGCT	0.507													16	21					0	0	0.557998	0	0	C	5291062	T	C	5291062	3	2	93	1	0	0	0	0	1	0	0	0	7021	1493	52	3	396	3	HBE1	11	5291062	Missense_Mutation	SNP	T	TCGA-DU-6405-01A-11D-1705-08		5291062	129715454	39	19775											
TSPAN18	90139	broad.mit.edu	37	11	44948236	44948236	+	Silent	SNP	G	G	C	rs149091051	byFrequency	TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr11:44948236G>C	ENST00000340160.3	+	8	866	c.627G>C	c.(625-627)acG>acC	p.T209T	TSPAN18_ENST00000520358.2_Silent_p.T209T	NM_130783.4	NP_570139.3	Q96SJ8	TSN18_HUMAN	tetraspanin 18	209						integral to membrane				endometrium(1)|large_intestine(6)|lung(3)	10						GCTGTTACACGGTGATCCTCA	0.587											OREG0020922	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	62	95					0	0	0.870114	0	0	C	44948236	G	C	44948236	2	2	93	1	0	0	0	0	0	0	0	1	16703	1103	39	5		5	TSPAN18	11	44948236	Silent	SNP	G	TCGA-DU-6405-01A-11D-1705-08	39657174	44948236	90058280	40	19776											
OR5D14	219436	broad.mit.edu	37	11	55563460	55563461	+	Frame_Shift_Ins	INS	-	-	G			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr11:55563460_55563461insG	ENST00000335605.1	+	1	429_430	c.429_430insG	c.(430-432)gccfs	p.A144fs		NM_001004735.1	NP_001004735.1	Q8NGL3	OR5DE_HUMAN	olfactory receptor, family 5, subfamily D, member 14	144					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48		all_epithelial(135;0.196)				AGAGGCTCTGTGCCCTGCTGGT	0.51													48	55	---	---	---	---						G	55563461	-	G	55563460	7	5	93	1	0	1	1	0	0	0	0	0	11202	1702	59	0	431	0	OR5D14	11	55563460	Frame_Shift_Ins	INS	-	TCGA-DU-6405-01A-11D-1705-08	10615224	55563460	79443056	41	19777											
P2RY2	5029	broad.mit.edu	37	11	72945405	72945405	+	Silent	SNP	G	G	A			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr11:72945405G>A	ENST00000311131.2	+	3	668	c.201G>A	c.(199-201)gcG>gcA	p.A67A	P2RY2_ENST00000393597.2_Silent_p.A67A|P2RY2_ENST00000393596.2_Silent_p.A67A	NM_002564.2|NM_176072.1	NP_002555|NP_788086	P41231	P2RY2_HUMAN	purinergic receptor P2Y, G-protein coupled, 2	67					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25					Suramin(DB04786)	CCTGGAATGCGTCCACCACAT	0.612													18	37					0	0	0.539581	0	0	A	72945405	G	A	72945405	2	1	93	1	0	0	0	0	0	0	0	1	11399	1132	40	1		1	P2RY2	11	72945405	Silent	SNP	G	TCGA-DU-6405-01A-11D-1705-08	17381945	72945405	62061111	42	19778											
DYNC2H1	79659	broad.mit.edu	37	11	102984404	102984404	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr11:102984404G>A	ENST00000375735.2	+	2	478	c.334G>A	c.(334-336)Gta>Ata	p.V112I	DYNC2H1_ENST00000398093.3_Missense_Mutation_p.V112I|DYNC2H1_ENST00000334267.7_Missense_Mutation_p.V112I	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	112	Stem (By similarity).				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		TTACCAAGCAGTACGGCAAGT	0.328													20	37					0	0	0.624587	0	0	A	102984404	G	A	102984404	3	1	93	1	0	0	0	0	1	0	0	0	4872	1029	36	2	340	2	DYNC2H1	11	102984404	Missense_Mutation	SNP	G	TCGA-DU-6405-01A-11D-1705-08	30038999	102984404	32022112	43	19779											
PDZD3	79849	broad.mit.edu	37	11	119059739	119059739	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr11:119059739G>A	ENST00000531114.1	+	8	2060	c.1511G>A	c.(1510-1512)cGg>cAg	p.R504Q	PDZD3_ENST00000392817.2_Missense_Mutation_p.R504Q|PDZD3_ENST00000322712.4_Missense_Mutation_p.R424Q|PDZD3_ENST00000355547.5_Missense_Mutation_p.R438Q|PDZD3_ENST00000525131.1_Missense_Mutation_p.R425Q			Q86UT5	NHRF4_HUMAN	PDZ domain containing 3	504	PDZ 4.				cGMP-mediated signaling|ion transport|negative regulation of cGMP biosynthetic process|response to toxin|water transport	apical part of cell|brush border|cytosol|membrane fraction|subapical complex	guanylate cyclase inhibitor activity|ion channel inhibitor activity|protein C-terminus binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)	14	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;7.52e-05)		TCAGCTGCCCGGGCTGGGCTG	0.607													43	57					0	0	0.870114	0	0	A	119059739	G	A	119059739	3	1	93	1	0	0	0	0	1	0	0	0	11749	1116	39	1	1351	1	PDZD3	11	119059739	Missense_Mutation	SNP	G	TCGA-DU-6405-01A-11D-1705-08	16075335	119059739	15946777	44	19780											
SP7	121340	broad.mit.edu	37	12	53722415	53722415	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr12:53722415C>T	ENST00000536324.2	-	3	1094	c.811G>A	c.(811-813)Gac>Aac	p.D271N	SP7_ENST00000537210.2_Missense_Mutation_p.D253N|SP7_ENST00000303846.3_Missense_Mutation_p.D271N	NM_001173467.1	NP_001166938.1	Q8TDD2	SP7_HUMAN	Sp7 transcription factor	271					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(2)|large_intestine(3)|lung(7)|skin(1)|urinary_tract(1)	14						TTAGGGCAGTCGCAGGAGGAG	0.662													13	13					0	0	0.435327	0	0	T	53722415	C	T	53722415	3	4	93	1	0	0	0	0	1	0	0	0	15023	884	31	1	488	1	SP7	12	53722415	Missense_Mutation	SNP	C	TCGA-DU-6405-01A-11D-1705-08		53722415	80129480	45	19781											
ATXN2	6311	broad.mit.edu	37	12	111908030	111908030	+	Silent	SNP	A	A	G			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr12:111908030A>G	ENST00000377617.3	-	20	3359	c.3198T>C	c.(3196-3198)taT>taC	p.Y1066Y	ATXN2_ENST00000535949.1_Silent_p.Y777Y|ATXN2_ENST00000608853.1_Silent_p.Y906Y|ATXN2_ENST00000389153.4_Silent_p.Y803Y|ATXN2_ENST00000542287.2_Silent_p.Y801Y|ATXN2_ENST00000550104.1_3'UTR	NM_002973.3	NP_002964.3	Q99700	ATX2_HUMAN	ataxin 2	1066	Pro-rich.				cell death|cytoplasmic mRNA processing body assembly|regulation of translation|RNA metabolic process|RNA transport|stress granule assembly	nucleus|perinuclear region of cytoplasm|polysome|stress granule|trans-Golgi network	protein C-terminus binding|RNA binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37						TTACAGGACTATAGACATGAG	0.418													33	52					0	0	0.788014	0	0	G	111908030	A	G	111908030	2	3	93	1	0	0	0	0	0	0	0	1	1209	456	16	3		3	ATXN2	12	111908030	Silent	SNP	A	TCGA-DU-6405-01A-11D-1705-08	58185615	111908030	21943865	46	19782											
SYT16	83851	broad.mit.edu	37	14	62547859	62547859	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr14:62547859G>A	ENST00000430451.2	+	4	1498	c.1301G>A	c.(1300-1302)cGc>cAc	p.R434H	RP11-355I22.5_ENST00000553990.1_lincRNA	NM_031914.2	NP_114120.2	Q17RD7	SYT16_HUMAN	synaptotagmin XVI	434	C2 1.									central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		TGTGCTGTCCGCTTCCGCCTG	0.572													13	18					0	0	0.479597	0	0	A	62547859	G	A	62547859	3	1	93	1	0	0	0	0	1	0	0	0	15529	1087	38	1	1315	1	SYT16	14	62547859	Missense_Mutation	SNP	G	TCGA-DU-6405-01A-11D-1705-08		62547859	44801681	47	19783											
SYT16	83851	broad.mit.edu	37	14	62567163	62567163	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr14:62567163G>A	ENST00000430451.2	+	6	1873	c.1676G>A	c.(1675-1677)cGt>cAt	p.R559H		NM_031914.2	NP_114120.2	Q17RD7	SYT16_HUMAN	synaptotagmin XVI	559	C2 2.									central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		GAGATGTCCCGTTGCAAGACG	0.458													11	16					0	0	0.411799	0	0	A	62567163	G	A	62567163	3	1	93	1	0	0	0	0	1	0	0	0	15529	1145	40	1	1698	1	SYT16	14	62567163	Missense_Mutation	SNP	G	TCGA-DU-6405-01A-11D-1705-08	19304	62567163	44782377	48	19784											
AHNAK2	113146	broad.mit.edu	37	14	105420969	105420969	+	Silent	SNP	C	C	T			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr14:105420969C>T	ENST00000333244.5	-	7	938	c.819G>A	c.(817-819)ccG>ccA	p.P273P		NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	273						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TCTGGGGTCCCGGCCCCCGCT	0.592													9	9					0	0	0.307466	0	0	T	105420969	C	T	105420969	2	4	93	1	0	0	0	0	0	0	0	1	412	639	23	1		1	AHNAK2	14	105420969	Silent	SNP	C	TCGA-DU-6405-01A-11D-1705-08	42853806	105420969	1928571	49	19785											
CREBBP	1387	broad.mit.edu	37	16	3781317	3781317	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr16:3781317C>G	ENST00000262367.5	-	30	5857	c.5048G>C	c.(5047-5049)cGc>cCc	p.R1683P	CREBBP_ENST00000382070.3_Missense_Mutation_p.R1645P	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1683	Interaction with TRERF1.				cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding	p.R1683H(1)		NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		CCACTTGGAGCGGCGCAAGGA	0.642			"T, N, F, Mis, O"	"MLL, MORF, RUNXBP2"	"ALL, AML, DLBCL, B-NHL "		Rubinstein-Taybi syndrome						13	7					0	0	0.435327	0	0	G	3781317	C	G	3781317	3	3	93	1	0	0	0	0	1	0	0	0	3884	768	27	5	2288	5	CREBBP	16	3781317	Missense_Mutation	SNP	C	TCGA-DU-6405-01A-11D-1705-08		3781317	86573436	50	19786											
ZNF624	57547	broad.mit.edu	37	17	16527452	16527452	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr17:16527452C>A	ENST00000311331.7	-	6	839	c.748G>T	c.(748-750)Gag>Tag	p.E250*		NM_020787.3	NP_065838.2	Q9P2J8	ZN624_HUMAN	zinc finger protein 624	250					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	26				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		CCTTTCATCTCCTTGCAAATT	0.373													67	74					2.165e-29	2.52583e-29	0.870114	1	0	A	16527452	C	A	16527452	4	1	93	1	0	0	0	0	0	1	0	0	18105	864	30	5	1853	5	ZNF624	17	16527452	Nonsense_Mutation	SNP	C	TCGA-DU-6405-01A-11D-1705-08		16527452	64667758	51	19787											
KRT39	390792	broad.mit.edu	37	17	39122910	39122910	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr17:39122910G>A	ENST00000355612.2	-	1	234	c.199C>T	c.(199-201)Cgc>Tgc	p.R67C	AC004231.2_ENST00000418393.1_RNA	NM_213656.3	NP_998821.3	Q6A163	K1C39_HUMAN	keratin 39	67	Head.					intermediate filament	structural molecule activity			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	17		Breast(137;0.00043)|Ovarian(249;0.15)				ATGGGCTTGCGACAAAAGCGA	0.517													81	111					0	0	0.870114	0	0	A	39122910	G	A	39122910	3	1	93	1	0	0	0	0	1	0	0	0	8519	1058	37	1	1304	1	KRT39	17	39122910	Missense_Mutation	SNP	G	TCGA-DU-6405-01A-11D-1705-08	22595458	39122910	42072300	52	19788											
TYK2	7297	broad.mit.edu	37	19	10465220	10465220	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr19:10465220G>A	ENST00000525621.1	-	19	3164	c.2683C>T	c.(2683-2685)Cgc>Tgc	p.R895C	TYK2_ENST00000524462.1_Missense_Mutation_p.R710C|TYK2_ENST00000264818.6_Missense_Mutation_p.R895C	NM_003331.4	NP_003322.3	P29597	TYK2_HUMAN	tyrosine kinase 2	895					intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			TTCAAATAGCGCTTGTGGAAA	0.577													17	50					0	0	0.520397	0	0	A	10465220	G	A	10465220	3	1	93	1	0	0	0	0	1	0	0	0	16872	1087	38	1	908	1	TYK2	19	10465220	Missense_Mutation	SNP	G	TCGA-DU-6405-01A-11D-1705-08		10465220	48663763	53	19789											
PSMC4	5704	broad.mit.edu	37	19	40480518	40480518	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr19:40480518C>T	ENST00000157812.2	+	5	755	c.557C>T	c.(556-558)aCg>aTg	p.T186M	PSMC4_ENST00000455878.2_Missense_Mutation_p.T155M	NM_006503.3|NM_153001.2	NP_006494.1|NP_694546.1	P43686	PRS6B_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 4	186					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	mitochondrion|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1)	19	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					CTCCCGCTCACGCATTTCGAG	0.627													6	45					0	0	0.27861	0	0	T	40480518	C	T	40480518	3	4	93	1	0	0	0	0	1	0	0	0	12738	536	19	1	575	1	PSMC4	19	40480518	Missense_Mutation	SNP	C	TCGA-DU-6405-01A-11D-1705-08	30015298	40480518	18648465	54	19790											
FBXO46	23403	broad.mit.edu	37	19	46216180	46216180	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr19:46216180G>A	ENST00000317683.3	-	2	707	c.574C>T	c.(574-576)Cga>Tga	p.R192*		NM_001080469.1	NP_001073938.1	Q6PJ61	FBX46_HUMAN	F-box protein 46	192							protein binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(2)|skin(1)	15		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00568)|GBM - Glioblastoma multiforme(486;0.0844)|Epithelial(262;0.201)		GTGGTCGGTCGTGGGTAGCTC	0.697													7	9					0	0	0.248553	0	0	A	46216180	G	A	46216180	4	1	93	1	0	0	0	0	0	1	0	0	5788	1153	40	1	1241	1	FBXO46	19	46216180	Nonsense_Mutation	SNP	G	TCGA-DU-6405-01A-11D-1705-08	5735662	46216180	12912803	55	19791											
KLK6	5653	broad.mit.edu	37	19	51466622	51466622	+	Silent	SNP	C	C	T			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr19:51466622C>T	ENST00000376851.3	-	4	820	c.381G>A	c.(379-381)ctG>ctA	p.L127L	KLK6_ENST00000376853.4_Intron|KLK6_ENST00000456750.2_Silent_p.L20L|KLK6_ENST00000310157.2_Silent_p.L127L|KLK6_ENST00000391808.1_Silent_p.L20L|CTB-147C22.8_ENST00000601506.1_RNA|KLK6_ENST00000594641.1_Silent_p.L127L	NM_001012964.1	NP_001012982.1	Q92876	KLK6_HUMAN	kallikrein-related peptidase 6	127	Peptidase S1.				amyloid precursor protein metabolic process|central nervous system development|collagen catabolic process|hormone metabolic process|myelination|positive regulation of G-protein coupled receptor protein signaling pathway|protein autoprocessing|proteolysis|regulation of cell differentiation|tissue regeneration	endoplasmic reticulum|extracellular region|microsome|mitochondrion|nucleolus	protein binding|serine-type endopeptidase activity			endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|skin(4)	13		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00372)|GBM - Glioblastoma multiforme(134;0.00871)		AGTCCCTCTCCAGGGGAAGGG	0.617													10	19					0	0	0.361761	0	0	T	51466622	C	T	51466622	2	4	93	1	0	0	0	0	0	0	0	1	8451	581	21	2		2	KLK6	19	51466622	Silent	SNP	C	TCGA-DU-6405-01A-11D-1705-08	5250442	51466622	7662361	56	19792											
SLC17A9	63910	broad.mit.edu	37	20	61594706	61594706	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr20:61594706G>A	ENST00000370349.3	+	7	896	c.692G>A	c.(691-693)cGg>cAg	p.R231Q	SLC17A9_ENST00000488738.1_3'UTR|SLC17A9_ENST00000370351.4_Missense_Mutation_p.R237Q			Q9BYT1	S17A9_HUMAN	solute carrier family 17 (vesicular nucleotide transporter), member 9	237					exocytosis|transmembrane transport	integral to membrane	transporter activity			endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	23						CGGCTCTTCCGGAAGCCTGCT	0.657													6	11					0	0	0.217242	0	0	A	61594706	G	A	61594706	3	1	93	1	0	0	0	0	1	0	0	0	14479	1116	39	1	732	1	SLC17A9	20	61594706	Missense_Mutation	SNP	G	TCGA-DU-6405-01A-11D-1705-08		61594706	1430814	57	19793											
TPTE	7179	broad.mit.edu	37	21	10920147	10920147	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr21:10920147A>T	ENST00000298232.7	-	18	1420	c.1053T>A	c.(1051-1053)ttT>ttA	p.F351L	TPTE_ENST00000342420.5_Missense_Mutation_p.F331L|TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000361285.4_Missense_Mutation_p.F369L	NM_199259.2	NP_954868	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	369	Phosphatase tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			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)		GCCTTTCTCCAAAATAATACA	0.383													18	95					0	0	0.639603	0	0	T	10920147	A	T	10920147	3	4	93	1	0	0	0	0	1	0	0	0	16491	127	5	5	572	5	TPTE	21	10920147	Missense_Mutation	SNP	A	TCGA-DU-6405-01A-11D-1705-08		10920147	37209748	58	19794											
ZNF280B	140883	broad.mit.edu	37	22	22842418	22842418	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr22:22842418A>G	ENST00000360412.2	-	4	2081	c.1306T>C	c.(1306-1308)Ttt>Ctt	p.F436L	ZNF280B_ENST00000406426.1_Missense_Mutation_p.F436L	NM_080764.2	NP_542942.1	Q86YH2	Z280B_HUMAN	zinc finger protein 280B	436					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(2)	22	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		TTGAGACAAAAGGGACAAAGC	0.428													4	174					0	0	0.150653	0	0	G	22842418	A	G	22842418	3	3	93	1	0	0	0	0	1	0	0	0	17873	72	3	3	329	3	ZNF280B	22	22842418	Missense_Mutation	SNP	A	TCGA-DU-6405-01A-11D-1705-08		22842418	28462148	59	19795											
RIBC2	26150	broad.mit.edu	37	22	45821982	45821982	+	Missense_Mutation	SNP	G	G	A	rs149130910	byFrequency	TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr22:45821982G>A	ENST00000342894.3	+	5	1025	c.611G>A	c.(610-612)cGc>cAc	p.R204H	RIBC2_ENST00000466226.1_3'UTR|RIBC2_ENST00000538017.1_Missense_Mutation_p.R272H			Q9H4K1	RIBC2_HUMAN	RIB43A domain with coiled-coils 2	204										NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|skin(2)|urinary_tract(1)	10		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		GTCCCTGACCGCTGGAAGGGC	0.642													6	12					0	0	0.217242	0	0	A	45821982	G	A	45821982	3	1	93	1	0	0	0	0	1	0	0	0	13403	1087	38	1	832	1	RIBC2	22	45821982	Missense_Mutation	SNP	G	TCGA-DU-6405-01A-11D-1705-08	22979564	45821982	5482584	60	19796											
SCML2	10389	broad.mit.edu	37	X	18259468	18259469	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chrX:18259468_18259469delTT	ENST00000251900.4	-	15	2164_2165	c.2005_2006delAA	c.(2005-2007)aagfs	p.K669fs	SCML2_ENST00000398048.3_3'UTR	NM_006089.2	NP_006080.1	Q9UQR0	SCML2_HUMAN	sex comb on midleg-like 2 (Drosophila)	669	SAM.				anatomical structure morphogenesis	PcG protein complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	36	Hepatocellular(33;0.183)					CACATCACTCTTGAGTAGGAAC	0.342													79	116	---	---	---	---						-	18259469	TT	-	18259468	7	5	93	1	0	1	0	1	0	0	0	0	13964	1609	56	0	100	0	SCML2	23	18259468	Frame_Shift_Del	DEL	TT	TCGA-DU-6405-01A-11D-1705-08		18259468	137011092	61	19797											
PLP1	5354	broad.mit.edu	37	X	103043374	103043374	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chrX:103043374C>T	ENST00000418604.1	+	6	911	c.631C>T	c.(631-633)Cca>Tca	p.P211S	PLP1_ENST00000466486.1_3'UTR|PLP1_ENST00000303958.2_Missense_Mutation_p.P211S|PLP1_ENST00000361621.2_Missense_Mutation_p.P176S	NM_001128834.1	NP_001122306.1	P60201	MYPR_HUMAN	proteolipid protein 1	211			P -> L (in HLD1).		cell death|synaptic transmission	integral to membrane				breast(1)|endometrium(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	17						AGGTGTTCTCCCATGGAATGC	0.478													134	186					0	0	0.870114	0	0	T	103043374	C	T	103043374	3	4	93	1	0	0	0	0	1	0	0	0	12152	623	22	2	649	2	PLP1	23	103043374	Missense_Mutation	SNP	C	TCGA-DU-6405-01A-11D-1705-08	84783906	103043374	52227186	62	19798											
GUCY2F	2986	broad.mit.edu	37	X	108719025	108719025	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chrX:108719025C>A	ENST00000218006.2	-	2	432	c.141G>T	c.(139-141)caG>caT	p.Q47H		NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN	guanylate cyclase 2F, retinal	47					intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						GTGTCCACACCTGCTGCGGAA	0.567											OREG0019905	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	32	48					1.62565e-12	1.81413e-12	0.760397	1	0	A	108719025	C	A	108719025	3	1	93	1	0	0	0	0	1	0	0	0	6939	680	24	4	3257	4	GUCY2F	23	108719025	Missense_Mutation	SNP	C	TCGA-DU-6405-01A-11D-1705-08	5675651	108719025	46551535	63	19799											
MAGEA6	4105	broad.mit.edu	37	X	151870194	151870194	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chrX:151870194G>A	ENST00000329342.5	+	3	1109	c.884G>A	c.(883-885)gGa>gAa	p.G295E		NM_005363.2	NP_005354.1	P43360	MAGA6_HUMAN	melanoma antigen family A, 6	295	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)					AAGATCAGTGGAGGACCTCGC	0.567													72	99					0	0	0.870114	0	0	A	151870194	G	A	151870194	3	1	93	1	0	0	0	0	1	0	0	0	9218	1174	41	2	886	2	MAGEA6	23	151870194	Missense_Mutation	SNP	G	TCGA-DU-6405-01A-11D-1705-08	43151169	151870194	3400366	64	19800											
SYCP1	6847	broad.mit.edu	37	1	115524063	115524063	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6406-01A-11D-1705-08	TCGA-DU-6406-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17569950-b826-4112-bf60-5a82c88a345a	3029907d-e2f8-42c8-a7bd-56c8d3fa319e	g.chr1:115524063G>A	ENST00000369522.3	+	29	2729	c.2489G>A	c.(2488-2490)gGc>gAc	p.G830D	SYCP1_ENST00000477590.1_3'UTR|SYCP1_ENST00000369518.1_Missense_Mutation_p.G830D	NM_001282541.1|NM_003176.2	NP_001269470.1|NP_003167.2	Q15431	SYCP1_HUMAN	synaptonemal complex protein 1	830					cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding		RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTTGATCATGGCATATCCAAA	0.333													4	82					0	0	1	0	0	A	115524063	G	A	115524063	3	1	94	1	0	0	0	0	1	0	0	0	15488	1203	42	2	2599	2	SYCP1	1	115524063	Missense_Mutation	SNP	G	TCGA-DU-6406-01A-11D-1705-08		115524063	133726558	1	19801											
RFWD2	64326	broad.mit.edu	37	1	176132079	176132079	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6406-01A-11D-1705-08	TCGA-DU-6406-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17569950-b826-4112-bf60-5a82c88a345a	3029907d-e2f8-42c8-a7bd-56c8d3fa319e	g.chr1:176132079G>A	ENST00000367669.3	-	5	1202	c.688C>T	c.(688-690)Caa>Taa	p.Q230*	RFWD2_ENST00000308769.8_Nonsense_Mutation_p.Q226*	NM_022457.5	NP_071902.2	Q8NHY2	RFWD2_HUMAN	ring finger and WD repeat domain 2, E3 ubiquitin protein ligase	230					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest	centrosome|cytosol|focal adhesion|nuclear speck	protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						AGGTTATCTTGGTCAGTTCCC	0.368													8	70					0	0	1	0	0	A	176132079	G	A	176132079	4	1	94	1	0	0	0	0	0	1	0	0	13312	1357	47	2	1571	2	RFWD2	1	176132079	Nonsense_Mutation	SNP	G	TCGA-DU-6406-01A-11D-1705-08	60608016	176132079	73118542	2	19802											
DNMBP	23268	broad.mit.edu	37	10	101667847	101667847	+	Missense_Mutation	SNP	G	G	A	rs114927649	byFrequency	TCGA-DU-6406-01A-11D-1705-08	TCGA-DU-6406-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17569950-b826-4112-bf60-5a82c88a345a	3029907d-e2f8-42c8-a7bd-56c8d3fa319e	g.chr10:101667847G>A	ENST00000342239.3	-	6	2550	c.2459C>T	c.(2458-2460)cCa>cTa	p.P820L	DNMBP_ENST00000543621.1_Missense_Mutation_p.P66L|DNMBP_ENST00000324109.4_Missense_Mutation_p.P820L			Q6XZF7	DNMBP_HUMAN	dynamin binding protein	820	DH.				intracellular signal transduction|regulation of Rho protein signal transduction	cell junction|cytoskeleton|Golgi stack|synapse	protein binding|Rho guanyl-nucleotide exchange factor activity			central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		ATCAATGTTTGGTACCTGAGA	0.368													3	35					0	0	1	0	0	A	101667847	G	A	101667847	3	1	94	1	0	0	0	0	1	0	0	0	4701	1348	47	2	2322	2	DNMBP	10	101667847	Missense_Mutation	SNP	G	TCGA-DU-6406-01A-11D-1705-08		101667847	33866900	3	19803											
MYF5	4617	broad.mit.edu	37	12	81112720	81112720	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6406-01A-11D-1705-08	TCGA-DU-6406-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17569950-b826-4112-bf60-5a82c88a345a	3029907d-e2f8-42c8-a7bd-56c8d3fa319e	g.chr12:81112720C>T	ENST00000228644.3	+	3	810	c.658C>T	c.(658-660)Cct>Tct	p.P220S		NM_005593.2	NP_005584.2	P13349	MYF5_HUMAN	myogenic factor 5	220					muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1)	30						CTCAGAGCAACCTGGGTTGCC	0.488													14	71					0	0	1	0	0	T	81112720	C	T	81112720	3	4	94	1	0	0	0	0	1	0	0	0	10075	507	18	2	668	2	MYF5	12	81112720	Missense_Mutation	SNP	C	TCGA-DU-6406-01A-11D-1705-08		81112720	52739175	4	19804											
ACIN1	22985	broad.mit.edu	37	14	23532675	23532675	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6406-01A-11D-1705-08	TCGA-DU-6406-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17569950-b826-4112-bf60-5a82c88a345a	3029907d-e2f8-42c8-a7bd-56c8d3fa319e	g.chr14:23532675G>A	ENST00000262710.1	-	13	3208	c.2881C>T	c.(2881-2883)Ccc>Tcc	p.P961S	ACIN1_ENST00000338631.6_Missense_Mutation_p.P234S|ACIN1_ENST00000557515.1_Missense_Mutation_p.P202S|ACIN1_ENST00000555053.1_Missense_Mutation_p.P948S|ACIN1_ENST00000357481.2_Missense_Mutation_p.P203S|ACIN1_ENST00000605057.1_Missense_Mutation_p.P903S|ACIN1_ENST00000457657.1_Missense_Mutation_p.P921S|ACIN1_ENST00000397341.3_Missense_Mutation_p.P203S	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	961					apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding			breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		GCAGGTGGGGGCAAGGCCACC	0.517													3	58					0	0	1	0	0	A	23532675	G	A	23532675	3	1	94	1	0	0	0	0	1	0	0	0	142	1203	42	2	1172	2	ACIN1	14	23532675	Missense_Mutation	SNP	G	TCGA-DU-6406-01A-11D-1705-08		23532675	83816865	5	19805											
SEC14L3	266629	broad.mit.edu	37	22	30858119	30858119	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6406-01A-11D-1705-08	TCGA-DU-6406-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17569950-b826-4112-bf60-5a82c88a345a	3029907d-e2f8-42c8-a7bd-56c8d3fa319e	g.chr22:30858119C>A	ENST00000403066.1	-	10	831	c.548G>T	c.(547-549)gGg>gTg	p.G183V	SEC14L3_ENST00000539629.1_Missense_Mutation_p.G183V|SEC14L3_ENST00000415957.2_Missense_Mutation_p.G183V|SEC14L3_ENST00000215812.4_Missense_Mutation_p.G242V|SEC14L3_ENST00000402286.1_Missense_Mutation_p.G165V|SEC14L3_ENST00000540910.1_Missense_Mutation_p.G165V|SEC14L3_ENST00000401751.1_Missense_Mutation_p.G183V			Q9UDX4	S14L3_HUMAN	SEC14-like 3 (S. cerevisiae)	242	CRAL-TRIO.					integral to membrane|intracellular	lipid binding|transporter activity			NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1)	19					Vitamin E(DB00163)	CAGGGTGCCCCCAAACTGGGC	0.517													3	32					0.00024832	0.000275911	1	1	0	A	30858119	C	A	30858119	3	1	94	1	0	0	0	0	1	0	0	0	14037	623	22	5	493	5	SEC14L3	22	30858119	Missense_Mutation	SNP	C	TCGA-DU-6406-01A-11D-1705-08		30858119	20446447	6	19806											
AR	367	broad.mit.edu	37	X	66765161	66765161	+	Missense_Mutation	SNP	A	A	T	rs71905623		TCGA-DU-6406-01A-11D-1705-08	TCGA-DU-6406-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17569950-b826-4112-bf60-5a82c88a345a	3029907d-e2f8-42c8-a7bd-56c8d3fa319e	g.chrX:66765161A>T	ENST00000374690.3	+	1	697	c.173A>T	c.(172-174)cAg>cTg	p.Q58L	AR_ENST00000504326.1_Missense_Mutation_p.Q58L|AR_ENST00000513847.1_3'UTR|AR_ENST00000396044.3_Missense_Mutation_p.Q58L	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN	androgen receptor	58	Gln-rich.|Modulating.|Poly-Gln.				cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport	cytoplasm|nuclear chromatin|nucleoplasm	androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding	p.Q58L(2)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624)	CTGCTGCTgcagcagcagcag	0.667									Androgen Insensitivity Syndrome				3	34					0	0	1	0	0	T	66765161	A	T	66765161	3	4	94	1	0	0	0	0	1	0	0	0	833	188	7	5	175	5	AR	23	66765161	Missense_Mutation	SNP	A	TCGA-DU-6406-01A-11D-1705-08		66765161	88505399	7	19807											
HSPG2	3339	broad.mit.edu	37	1	22174482	22174482	+	Silent	SNP	G	G	A			TCGA-DU-6407-01A-13D-1705-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92a34fa-014e-4b41-a6d0-3b46b8c8a3ee	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:22174482G>A	ENST00000374695.3	-	60	7921	c.7842C>T	c.(7840-7842)atC>atT	p.I2614I	HSPG2_ENST00000430507.1_3'UTR	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	2614	Ig-like C2-type 11.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	GGATGGTGACGATGAGCGAGG	0.662													6	40					0	0	0.021553	0	0	A	22174482	G	A	22174482	2	1	95	1	0	0	0	0	0	0	0	1	7474	1048	37	1		1	HSPG2	1	22174482	Silent	SNP	G	TCGA-DU-6407-01A-13D-1705-08		22174482	227076139	1	19808											
FPGT	8790	broad.mit.edu	37	1	74670899	74670899	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6407-01A-13D-1705-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92a34fa-014e-4b41-a6d0-3b46b8c8a3ee	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:74670899C>A	ENST00000609362.1	+	4	1205	c.1168C>A	c.(1168-1170)Cca>Aca	p.P390T	FPGT-TNNI3K_ENST00000370895.1_Intron|FPGT-TNNI3K_ENST00000557284.2_Intron|TNNI3K_ENST00000370891.2_Intron|FPGT-TNNI3K_ENST00000370893.1_Intron|FPGT-TNNI3K_ENST00000370899.3_Intron|FPGT_ENST00000370894.5_Missense_Mutation_p.F117L|FPGT_ENST00000534056.1_Intron|FPGT_ENST00000370898.3_Missense_Mutation_p.P403T|FPGT_ENST00000524915.1_Intron|FPGT-TNNI3K_ENST00000533006.1_Intron	NM_003838.4	NP_003829.3			fucose-1-phosphate guanylyltransferase											breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	39						TAGTATCTTTCCAGATATACC	0.388													11	65					1.58986e-06	1.74885e-06	0.008291	1	0	A	74670899	C	A	74670899	3	1	95	1	0	0	0	0	1	0	0	0	6071	855	30	5	1182	5	FPGT	1	74670899	Missense_Mutation	SNP	C	TCGA-DU-6407-01A-13D-1705-08	52496417	74670899	174579722	2	19809											
ARHGAP25	9938	broad.mit.edu	37	2	69002506	69002506	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-01A-13D-1705-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92a34fa-014e-4b41-a6d0-3b46b8c8a3ee	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:69002506C>T	ENST00000295381.3	+	2	634	c.215C>T	c.(214-216)gCg>gTg	p.A72V	ARHGAP25_ENST00000497079.1_Missense_Mutation_p.A65V|ARHGAP25_ENST00000409220.1_Missense_Mutation_p.A65V|ARHGAP25_ENST00000409202.3_Missense_Mutation_p.A72V|ARHGAP25_ENST00000456116.2_3'UTR|ARHGAP25_ENST00000467265.1_Missense_Mutation_p.A72V|ARHGAP25_ENST00000409030.3_Missense_Mutation_p.A65V|ARHGAP25_ENST00000544262.1_Missense_Mutation_p.A46V	NM_001007231.2	NP_001007232.2	P42331	RHG25_HUMAN	Rho GTPase activating protein 25	72	PH.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	52						GTGCTGAGGGCGCAGCAGCTC	0.592													4	92					0	0	0.009096	0	0	T	69002506	C	T	69002506	3	4	95	1	0	0	0	0	1	0	0	0	871	768	27	1	261	1	ARHGAP25	2	69002506	Missense_Mutation	SNP	C	TCGA-DU-6407-01A-13D-1705-08		69002506	174196867	3	19810											
CYP26B1	56603	broad.mit.edu	37	2	72359586	72359586	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-01A-13D-1705-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92a34fa-014e-4b41-a6d0-3b46b8c8a3ee	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:72359586C>T	ENST00000001146.2	-	6	1512	c.1309G>A	c.(1309-1311)Ggt>Agt	p.G437S	CYP26B1_ENST00000412253.1_Missense_Mutation_p.G246S|CYP26B1_ENST00000546307.1_Missense_Mutation_p.G362S	NM_001277742.1|NM_019885.2	NP_001264671.1|NP_063938.1	Q9NR63	CP26B_HUMAN	cytochrome P450, family 26, subfamily B, polypeptide 1	437					cell fate determination|embryonic limb morphogenesis|male meiosis|negative regulation of retinoic acid receptor signaling pathway|proximal/distal pattern formation|retinoic acid catabolic process|spermatogenesis|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding			breast(1)|kidney(3)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)	28						GTCCGGACACCGCCACCGAAC	0.647													16	15					0	0	0.007413	0	0	T	72359586	C	T	72359586	3	4	95	1	0	0	0	0	1	0	0	0	4179	652	23	1	233	1	CYP26B1	2	72359586	Missense_Mutation	SNP	C	TCGA-DU-6407-01A-13D-1705-08	3357080	72359586	170839787	4	19811											
SCN1A	6323	broad.mit.edu	37	2	166872165	166872165	+	Missense_Mutation	SNP	C	C	T	rs146374754		TCGA-DU-6407-01A-13D-1705-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92a34fa-014e-4b41-a6d0-3b46b8c8a3ee	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:166872165C>T	ENST00000423058.2	-	17	3519	c.3502G>A	c.(3502-3504)Gta>Ata	p.V1168I	SCN1A_ENST00000409050.1_Missense_Mutation_p.V1140I|AC010127.3_ENST00000597623.1_RNA|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000375405.3_Missense_Mutation_p.V1157I|SCN1A_ENST00000303395.4_Missense_Mutation_p.V1168I	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1168						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	GGTTCCACTACGGGCTGTTCT	0.413													47	78					0	0	0.01441	0	0	T	166872165	C	T	166872165	3	4	95	1	0	0	0	0	1	0	0	0	13968	536	19	1	2567	1	SCN1A	2	166872165	Missense_Mutation	SNP	C	TCGA-DU-6407-01A-13D-1705-08	94512579	166872165	76327208	5	19812											
PDK1	5163	broad.mit.edu	37	2	173423525	173423525	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-6407-01A-13D-1705-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92a34fa-014e-4b41-a6d0-3b46b8c8a3ee	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:173423525C>G	ENST00000282077.3	+	2	468	c.286C>G	c.(286-288)Ctc>Gtc	p.L96V	PDK1_ENST00000543905.1_Missense_Mutation_p.L20V|PDK1_ENST00000544863.1_5'UTR|PDK1_ENST00000392571.2_Missense_Mutation_p.L96V|PDK1_ENST00000410055.1_Missense_Mutation_p.L96V			Q15118	PDK1_HUMAN	pyruvate dehydrogenase kinase, isozyme 1						glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate|small GTPase mediated signal transduction	mitochondrial matrix	ATP binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity			central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)	16			OV - Ovarian serous cystadenocarcinoma(117;0.12)			AGAAATAAGTCTCCTTCCAGA	0.393									Autosomal Dominant Polycystic Kidney Disease				32	41					0	0	0.008361	0	0	G	173423525	C	G	173423525	3	3	95	1	0	0	0	0	1	0	0	0	11722	913	32	4	292	4	PDK1	2	173423525	Missense_Mutation	SNP	C	TCGA-DU-6407-01A-13D-1705-08	6551360	173423525	69775848	6	19813											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-DU-6407-01A-13D-1705-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92a34fa-014e-4b41-a6d0-3b46b8c8a3ee	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	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	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								24	34					0	0	0.014323	0	0	T	209113112	C	T	209113112	3	4	95	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-DU-6407-01A-13D-1705-08	35689587	209113112	34086261	7	19814											
KIF1A	547	broad.mit.edu	37	2	241702180	241702180	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DU-6407-01A-13D-1705-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92a34fa-014e-4b41-a6d0-3b46b8c8a3ee	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:241702180delT	ENST00000498729.2	-	23	2318	c.2072delA	c.(2071-2073)tacfs	p.Y692fs	KIF1A_ENST00000320389.7_Frame_Shift_Del_p.Y683fs	NM_001244008.1	NP_001230937.1	Q12756	KIF1A_HUMAN	kinesin family member 1A	683					anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		CTCCGGGTAGTACCTGGAGTC	0.617													2	4	---	---	---	---						-	241702180	T	-	241702180	7	5	95	1	0	1	0	1	0	0	0	0	8325	1638	57	0	3131	0	KIF1A	2	241702180	Frame_Shift_Del	DEL	T	TCGA-DU-6407-01A-13D-1705-08	32589068	241702180	1497193	8	19815											
LMCD1	29995	broad.mit.edu	37	3	8590439	8590439	+	Silent	SNP	C	C	T			TCGA-DU-6407-01A-13D-1705-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92a34fa-014e-4b41-a6d0-3b46b8c8a3ee	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:8590439C>T	ENST00000157600.3	+	4	805	c.573C>T	c.(571-573)agC>agT	p.S191S	LMCD1_ENST00000397386.3_Silent_p.S79S|LMCD1_ENST00000454244.1_Silent_p.S118S|LMCD1_ENST00000535732.1_Silent_p.S191S|LMCD1-AS1_ENST00000439407.1_RNA	NM_014583.2	NP_055398.1	Q9NZU5	LMCD1_HUMAN	LIM and cysteine-rich domains 1	191	PET.				positive regulation of calcineurin-NFAT signaling pathway|regulation of cardiac muscle hypertrophy|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus	transcription corepressor activity|zinc ion binding			breast(2)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)	16				OV - Ovarian serous cystadenocarcinoma(96;0.124)		AATATAAGAGCGAGGCCCTCG	0.587													32	66					0	0	0.010818	0	0	T	8590439	C	T	8590439	2	4	95	1	0	0	0	0	0	0	0	1	8885	767	27	1		1	LMCD1	3	8590439	Silent	SNP	C	TCGA-DU-6407-01A-13D-1705-08		8590439	189431991	9	19816											
FAM134B	54463	broad.mit.edu	37	5	16475174	16475174	+	Silent	SNP	C	C	T			TCGA-DU-6407-01A-13D-1705-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92a34fa-014e-4b41-a6d0-3b46b8c8a3ee	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr5:16475174C>T	ENST00000306320.9	-	9	1256	c.1170G>A	c.(1168-1170)acG>acA	p.T390T	FAM134B_ENST00000399793.2_Silent_p.T249T	NM_001034850.2	NP_001030022.1	Q9H6L5	F134B_HUMAN	family with sequence similarity 134, member B	390					sensory perception of pain	cis-Golgi network|endoplasmic reticulum|integral to membrane				breast(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(2)|skin(1)	16						CTGCTGATTGCGTCTCTTTGC	0.493													37	48					0	0	0.019004	0	0	T	16475174	C	T	16475174	2	4	95	1	0	0	0	0	0	0	0	1	5477	755	27	1		1	FAM134B	5	16475174	Silent	SNP	C	TCGA-DU-6407-01A-13D-1705-08		16475174	164440086	10	19817											
CLK4	57396	broad.mit.edu	37	5	178039445	178039445	+	Silent	SNP	C	C	T			TCGA-DU-6407-01A-13D-1705-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92a34fa-014e-4b41-a6d0-3b46b8c8a3ee	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr5:178039445C>T	ENST00000316308.4	-	9	1191	c.1023G>A	c.(1021-1023)cgG>cgA	p.R341R		NM_020666.2	NP_065717.1	Q9HAZ1	CLK4_HUMAN	CDC-like kinase 4	341	Protein kinase.					nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(2)	21	all_cancers(89;0.000969)|Renal(175;0.000159)|all_epithelial(37;0.000451)|Lung NSC(126;0.00545)|all_lung(126;0.00918)	all_cancers(40;0.0272)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.235)		CTCTGTAGTGCCGGGTAGACA	0.408													3	58					0	0	0.004672	0	0	T	178039445	C	T	178039445	2	4	95	1	0	0	0	0	0	0	0	1	3562	726	26	2		2	CLK4	5	178039445	Silent	SNP	C	TCGA-DU-6407-01A-13D-1705-08	161564271	178039445	2875815	11	19818											
IGF2R	3482	broad.mit.edu	37	6	160501242	160501242	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-01A-13D-1705-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92a34fa-014e-4b41-a6d0-3b46b8c8a3ee	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:160501242C>T	ENST00000356956.1	+	39	5916	c.5768C>T	c.(5767-5769)gCg>gTg	p.A1923V		NM_000876.2	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	1923	Fibronectin type-II.				receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)		GAGAGCAGGGCGAAGCTGTGG	0.557													45	49					0	0	0.010771	0	0	T	160501242	C	T	160501242	3	4	95	1	0	0	0	0	1	0	0	0	7620	768	27	1	5922	1	IGF2R	6	160501242	Missense_Mutation	SNP	C	TCGA-DU-6407-01A-13D-1705-08		160501242	10613825	12	19819											
PXDNL	137902	broad.mit.edu	37	8	52359639	52359639	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-01A-13D-1705-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92a34fa-014e-4b41-a6d0-3b46b8c8a3ee	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr8:52359639C>T	ENST00000356297.4	-	12	1550	c.1450G>A	c.(1450-1452)Ggc>Agc	p.G484S	PXDNL_ENST00000543296.1_Missense_Mutation_p.G484S	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	484	Ig-like C2-type 3.				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				TCATATTGGCCTTGATCGTGC	0.468													5	221					0	0	0.014758	0	0	T	52359639	C	T	52359639	3	4	95	1	0	0	0	0	1	0	0	0	12900	681	24	2	2989	2	PXDNL	8	52359639	Missense_Mutation	SNP	C	TCGA-DU-6407-01A-13D-1705-08		52359639	94004383	13	19820											
GATA3	2625	broad.mit.edu	37	10	8100437	8100437	+	Silent	SNP	G	G	A			TCGA-DU-6407-01A-13D-1705-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92a34fa-014e-4b41-a6d0-3b46b8c8a3ee	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:8100437G>A	ENST00000379328.3	+	3	979	c.411G>A	c.(409-411)tcG>tcA	p.S137S	GATA3_ENST00000346208.3_Silent_p.S137S|GATA3_ENST00000461472.1_3'UTR	NM_001002295.1|NM_002051.2	NP_001002295.1|NP_002042.1	P23771	GATA3_HUMAN	GATA binding protein 3	137	Poly-Ser.				aortic valve morphogenesis|blood coagulation|canonical Wnt receptor signaling pathway involved in metanephric kidney development|cardiac right ventricle morphogenesis|cell fate determination|cellular response to interferon-alpha|cellular response to interleukin-4|cellular response to tumor necrosis factor|defense response|ear development|lymphocyte migration|male gonad development|mesenchymal to epithelial transition|mesonephros development|negative regulation of cell cycle|negative regulation of cell motility|negative regulation of cell proliferation involved in mesonephros development|negative regulation of endothelial cell apoptosis|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation|negative regulation of inflammatory response|negative regulation of mammary gland epithelial cell proliferation|nephric duct formation|norepinephrine biosynthetic process|pharyngeal system development|phosphatidylinositol 3-kinase cascade|positive regulation of endothelial cell migration|positive regulation of interleukin-13 secretion|positive regulation of interleukin-4 production|positive regulation of interleukin-5 secretion|positive regulation of protein kinase B signaling cascade|positive regulation of T cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of ureteric bud formation|regulation of cellular response to X-ray|regulation of cytokine biosynthetic process|regulation of nephron tubule epithelial cell differentiation|response to estrogen stimulus|response to virus|sympathetic nervous system development|T cell receptor signaling pathway|TOR signaling cascade|ureteric bud formation|uterus development|ventricular septum development	nuclear chromatin|nucleolus|nucleoplasm	core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|E-box binding|HMG box domain binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription coactivator activity|transcription factor binding|zinc ion binding			NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2)	87						CCCCGGCCTCGTCCTCCTCCT	0.716			"F, N, S"		breast		"HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"						31	37					0	0	0.015359	0	0	A	8100437	G	A	8100437	2	1	95	1	0	0	0	0	0	0	0	1	6295	1132	40	1		1	GATA3	10	8100437	Silent	SNP	G	TCGA-DU-6407-01A-13D-1705-08		8100437	127434310	14	19821											
CAMK1D	57118	broad.mit.edu	37	10	12803041	12803041	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-01A-13D-1705-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92a34fa-014e-4b41-a6d0-3b46b8c8a3ee	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:12803041G>A	ENST00000378847.3	+	4	731	c.394G>A	c.(394-396)Gtg>Atg	p.V132M	CAMK1D_ENST00000378845.1_Missense_Mutation_p.V132M	NM_153498.2	NP_705718.1	Q8IU85	KCC1D_HUMAN	calcium/calmodulin-dependent protein kinase ID	132	Protein kinase.					calcium- and calmodulin-dependent protein kinase complex|cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)	16				GBM - Glioblastoma multiforme(1;3.16e-05)		CTTGGACGCCGTGTACTATCT	0.577													12	21					0	0	0.013537	0	0	A	12803041	G	A	12803041	3	1	95	1	0	0	0	0	1	0	0	0	2615	1145	40	1	408	1	CAMK1D	10	12803041	Missense_Mutation	SNP	G	TCGA-DU-6407-01A-13D-1705-08	4702604	12803041	122731706	15	19822											
MYO3A	53904	broad.mit.edu	37	10	26359114	26359114	+	Silent	SNP	T	T	C			TCGA-DU-6407-01A-13D-1705-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92a34fa-014e-4b41-a6d0-3b46b8c8a3ee	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:26359114T>C	ENST00000265944.5	+	13	1411	c.1245T>C	c.(1243-1245)taT>taC	p.Y415Y	MYO3A_ENST00000543632.1_Silent_p.Y415Y	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	415	Myosin head-like.				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						ACTTAGGATATCAATCTATGA	0.318													4	65					0	0	0.014758	0	0	C	26359114	T	C	26359114	2	2	95	1	0	0	0	0	0	0	0	1	10124	1442	50	3		3	MYO3A	10	26359114	Silent	SNP	T	TCGA-DU-6407-01A-13D-1705-08	13556073	26359114	109175633	16	19823											
HPS1	3257	broad.mit.edu	37	10	100185433	100185433	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6407-01A-13D-1705-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92a34fa-014e-4b41-a6d0-3b46b8c8a3ee	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:100185433A>C	ENST00000325103.6	-	13	1433	c.1200T>G	c.(1198-1200)gaT>gaG	p.D400E	HPS1_ENST00000361490.4_Missense_Mutation_p.D400E|HPS1_ENST00000467246.1_5'UTR	NM_000195.3	NP_000186.2	Q92902	HPS1_HUMAN	Hermansky-Pudlak syndrome 1	400					lysosome organization|response to stimulus|visual perception	cytoplasmic membrane-bounded vesicle|integral to plasma membrane|lysosome|membrane fraction|soluble fraction	protein dimerization activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23		Colorectal(252;0.234)		Epithelial(162;3.87e-12)|all cancers(201;5.63e-10)		TGGAGAAGCCATCCATCAGCT	0.692									Hermansky-Pudlak syndrome		OREG0020430	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	15	23					0	0	0.024245	0	0	C	100185433	A	C	100185433	3	2	95	1	0	0	0	0	1	0	0	0	7380	214	8	4	934	4	HPS1	10	100185433	Missense_Mutation	SNP	A	TCGA-DU-6407-01A-13D-1705-08	73826319	100185433	35349314	17	19824											
CBX5	23468	broad.mit.edu	37	12	54635636	54635636	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-01A-13D-1705-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92a34fa-014e-4b41-a6d0-3b46b8c8a3ee	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:54635636C>T	ENST00000209875.4	-	5	615	c.479G>A	c.(478-480)tGt>tAt	p.C160Y	CBX5_ENST00000439541.2_Missense_Mutation_p.C160Y|CBX5_ENST00000550411.1_Missense_Mutation_p.C160Y	NM_012117.2	NP_036249.1	P45973	CBX5_HUMAN	chromobox homolog 5	160	Chromo 2; shadow subtype.				blood coagulation|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|nuclear centromeric heterochromatin|nuclear envelope|nucleolus|transcriptional repressor complex	methylated histone residue binding|protein binding, bridging|repressing transcription factor binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(2)	8						AATTTGTGGACATTTCACATT	0.398													45	71					0	0	0.009718	0	0	T	54635636	C	T	54635636	3	4	95	1	0	0	0	0	1	0	0	0	2739	478	17	2	100	2	CBX5	12	54635636	Missense_Mutation	SNP	C	TCGA-DU-6407-01A-13D-1705-08		54635636	79216259	18	19825											
MIPEP	4285	broad.mit.edu	37	13	24444199	24444199	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-01A-13D-1705-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92a34fa-014e-4b41-a6d0-3b46b8c8a3ee	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr13:24444199C>T	ENST00000382172.3	-	6	837	c.739G>A	c.(739-741)Gat>Aat	p.D247N		NM_005932.3	NP_005923	Q99797	MIPEP_HUMAN	mitochondrial intermediate peptidase	247					protein processing involved in protein targeting to mitochondrion|proteolysis	mitochondrial matrix	metal ion binding|metalloendopeptidase activity			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(12)|prostate(2)|skin(1)	27		all_cancers(29;1.83e-22)|all_epithelial(30;8.75e-19)|all_lung(29;9.17e-18)|Lung SC(185;0.0225)|Breast(139;0.14)		all cancers(112;0.00389)|Epithelial(112;0.0266)|OV - Ovarian serous cystadenocarcinoma(117;0.0717)|Lung(94;0.207)|GBM - Glioblastoma multiforme(144;0.232)		ATGATATGATCCCCAGCAGAT	0.393													50	51					0	0	0.01441	0	0	T	24444199	C	T	24444199	3	4	95	1	0	0	0	0	1	0	0	0	9640	855	30	2	1458	2	MIPEP	13	24444199	Missense_Mutation	SNP	C	TCGA-DU-6407-01A-13D-1705-08		24444199	90725679	19	19826											
TAT	6898	broad.mit.edu	37	16	71610262	71610262	+	Silent	SNP	G	G	A			TCGA-DU-6407-01A-13D-1705-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92a34fa-014e-4b41-a6d0-3b46b8c8a3ee	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:71610262G>A	ENST00000355962.4	-	2	190	c.57C>T	c.(55-57)gaC>gaT	p.D19D	RP11-432I5.1_ENST00000561529.1_RNA	NM_000353.2	NP_000344.1	P17735	ATTY_HUMAN	tyrosine aminotransferase	19					2-oxoglutarate metabolic process|glutamate metabolic process|L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	1-aminocyclopropane-1-carboxylate synthase activity|L-tyrosine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(3)	29		Ovarian(137;0.125)		Kidney(780;0.0157)	L-Glutamic Acid(DB00142)|L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Pyridoxal Phosphate(DB00114)	TGACATGCACGTCCAGAATTG	0.522													5	56					0	0	0.014758	0	0	A	71610262	G	A	71610262	2	1	95	1	0	0	0	0	0	0	0	1	15647	1136	40	1		1	TAT	16	71610262	Silent	SNP	G	TCGA-DU-6407-01A-13D-1705-08		71610262	18744491	20	19827											
ZDHHC7	55625	broad.mit.edu	37	16	85010046	85010046	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-01A-13D-1705-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92a34fa-014e-4b41-a6d0-3b46b8c8a3ee	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:85010046C>T	ENST00000313732.4	-	8	1182	c.830G>A	c.(829-831)gGg>gAg	p.G277E	ZDHHC7_ENST00000564466.1_Missense_Mutation_p.G314E	NM_017740.2	NP_060210.2	Q9NXF8	ZDHC7_HUMAN	zinc finger, DHHC-type containing 7	277						integral to membrane	acyltransferase activity|protein binding|zinc ion binding			large_intestine(6)|lung(4)	10						TGAGGGGGGCCCCCCAAAGAC	0.572													13	20					0	0	0.028581	0	0	T	85010046	C	T	85010046	3	4	95	1	0	0	0	0	1	0	0	0	17678	623	22	2	100	2	ZDHHC7	16	85010046	Missense_Mutation	SNP	C	TCGA-DU-6407-01A-13D-1705-08	13399784	85010046	5344707	21	19828											
TP53	7157	broad.mit.edu	37	17	7579362	7579362	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6407-01A-13D-1705-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92a34fa-014e-4b41-a6d0-3b46b8c8a3ee	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:7579362A>C	ENST00000420246.2	-	4	457	c.325T>G	c.(325-327)Ttc>Gtc	p.F109V	TP53_ENST00000445888.2_Missense_Mutation_p.F109V|TP53_ENST00000413465.2_Missense_Mutation_p.F109V|TP53_ENST00000359597.4_Missense_Mutation_p.F109V|TP53_ENST00000455263.2_Missense_Mutation_p.F109V|TP53_ENST00000269305.4_Missense_Mutation_p.F109V	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	109	Interaction with HIPK1 (By similarity).|Interaction with WWOX.		F -> C (in sporadic cancers; somatic mutation).|F -> L (in a sporadic cancer; somatic mutation).|F -> 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.0?(8)|p.Q100fs*37(3)|p.G59fs*23(3)|p.F109fs*16(3)|p.G108_F109delGF(2)|p.F109_R110delFR(2)|p.V73fs*9(1)|p.G105_T125del21(1)|p.Y107fs*44(1)|p.W91fs*13(1)|p.Y103_G112>C(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.Y107fs*38(1)|p.F109V(1)|p.Y103_L111>L(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)		CCCAGACGGAAACCGTAGCTG	0.612		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)			54	7					0	0	0.01441	0	0	C	7579362	A	C	7579362	3	2	95	1	0	0	0	0	1	0	0	0	16442	14	1	5	977	5	TP53	17	7579362	Missense_Mutation	SNP	A	TCGA-DU-6407-01A-13D-1705-08		7579362	73615848	22	19829											
ACACA	31	broad.mit.edu	37	17	35640173	35640173	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6407-01A-13D-1705-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92a34fa-014e-4b41-a6d0-3b46b8c8a3ee	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:35640173T>C	ENST00000353139.5	-	5	1086	c.605A>G	c.(604-606)aAt>aGt	p.N202S	ACACA_ENST00000335166.5_Missense_Mutation_p.N87S|ACACA_ENST00000394406.2_Missense_Mutation_p.N165S|ACACA_ENST00000360679.3_Missense_Mutation_p.N107S	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	165	Biotin carboxylation.				acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	CTCACCTGCATTGGCTTTAAG	0.408													14	37					0	0	0.024245	0	0	C	35640173	T	C	35640173	3	2	95	1	0	0	0	0	1	0	0	0	106	1493	52	3	6754	3	ACACA	17	35640173	Missense_Mutation	SNP	T	TCGA-DU-6407-01A-13D-1705-08	28060811	35640173	45555037	23	19830											
HNF1B	6928	broad.mit.edu	37	17	36059196	36059196	+	Silent	SNP	G	G	A			TCGA-DU-6407-01A-13D-1705-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92a34fa-014e-4b41-a6d0-3b46b8c8a3ee	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:36059196G>A	ENST00000225893.4	-	8	1900	c.1539C>T	c.(1537-1539)taC>taT	p.Y513Y	HNF1B_ENST00000427275.2_Intron|HNF1B_ENST00000560016.1_Intron|HNF1B_ENST00000561193.1_Silent_p.Y487Y	NM_000458.2|NM_001165923.1	NP_000449.1|NP_001159395.1	P35680	HNF1B_HUMAN	HNF1 homeobox B	513					endocrine pancreas development|genitalia development|kidney development|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric nephron tubule development|regulation of pronephros size	nucleus	DNA binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(3)|large_intestine(2)|liver(1)|lung(3)|ovary(3)|prostate(1)|skin(2)	28		Breast(25;0.00765)|Ovarian(249;0.15)	STAD - Stomach adenocarcinoma(1;0.0142)			GCTTGTGTGCGTACACTGGAG	0.532													6	38					0	0	0.00308	0	0	A	36059196	G	A	36059196	2	1	95	1	0	0	0	0	0	0	0	1	7293	1140	40	1		1	HNF1B	17	36059196	Silent	SNP	G	TCGA-DU-6407-01A-13D-1705-08	419023	36059196	45136014	24	19831											
HELZ	9931	broad.mit.edu	37	17	65105677	65105677	+	Silent	SNP	A	A	G			TCGA-DU-6407-01A-13D-1705-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92a34fa-014e-4b41-a6d0-3b46b8c8a3ee	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:65105677A>G	ENST00000358691.5	-	29	4210	c.4044T>C	c.(4042-4044)gcT>gcC	p.A1348A	HELZ_ENST00000580168.1_Silent_p.A1349A	NM_014877.3	NP_055692			helicase with zinc finger											NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					GTGCGTGGGGAGCAGGAAGGG	0.473													43	41					0	0	0.011902	0	0	G	65105677	A	G	65105677	2	3	95	1	0	0	0	0	0	0	0	1	7090	291	11	3		3	HELZ	17	65105677	Silent	SNP	A	TCGA-DU-6407-01A-13D-1705-08	29046481	65105677	16089533	25	19832											
LGI4	163175	broad.mit.edu	37	19	35616158	35616158	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-01A-13D-1705-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92a34fa-014e-4b41-a6d0-3b46b8c8a3ee	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:35616158G>A	ENST00000310123.3	-	9	2072	c.1553C>T	c.(1552-1554)gCt>gTt	p.A518V	LGI4_ENST00000493050.1_5'UTR|LGI4_ENST00000392225.3_3'UTR	NM_139284.2	NP_644813.1	Q8N135	LGI4_HUMAN	leucine-rich repeat LGI family, member 4	518						extracellular region				endometrium(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10	all_lung(56;7.56e-09)|Lung NSC(56;1.1e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.54e-20)|OV - Ovarian serous cystadenocarcinoma(14;1.33e-18)|all cancers(14;4.27e-17)|LUSC - Lung squamous cell carcinoma(66;0.0849)			AAAGCAAGCAGCAAAGAGGAA	0.647													3	36					0	0	0.004672	0	0	A	35616158	G	A	35616158	3	1	95	1	0	0	0	0	1	0	0	0	8794	971	34	2	64	2	LGI4	19	35616158	Missense_Mutation	SNP	G	TCGA-DU-6407-01A-13D-1705-08		35616158	23512825	26	19833											
USP25	29761	broad.mit.edu	37	21	17246819	17246819	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6407-01A-13D-1705-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92a34fa-014e-4b41-a6d0-3b46b8c8a3ee	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr21:17246819T>C	ENST00000285681.2	+	23	3238	c.2869T>C	c.(2869-2871)Tca>Cca	p.S957P	USP25_ENST00000400183.2_Missense_Mutation_p.S995P|USP25_ENST00000351097.5_Missense_Mutation_p.S320P|USP25_ENST00000285679.6_Missense_Mutation_p.S925P	NM_001283042.1	NP_001269971.1	Q9UHP3	UBP25_HUMAN	ubiquitin specific peptidase 25	925					protein modification process|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.S925P(1)		breast(4)|endometrium(6)|kidney(2)|large_intestine(13)|liver(5)|lung(14)|ovary(4)|prostate(1)|skin(1)|urinary_tract(2)	52				Epithelial(23;7.55e-05)|all cancers(11;0.000429)|COAD - Colon adenocarcinoma(22;0.00543)|OV - Ovarian serous cystadenocarcinoma(11;0.00743)|Colorectal(24;0.0116)|Lung(58;0.0853)|LUSC - Lung squamous cell carcinoma(23;0.0889)		AGAATTGATATCACATTATAG	0.328													30	162					0	0	0.010818	0	0	C	17246819	T	C	17246819	3	2	95	1	0	0	0	0	1	0	0	0	17116	1435	50	3	2859	3	USP25	21	17246819	Missense_Mutation	SNP	T	TCGA-DU-6407-01A-13D-1705-08		17246819	30883076	27	19834											
CXorf21	80231	broad.mit.edu	37	X	30578233	30578233	+	Silent	SNP	T	T	C			TCGA-DU-6407-01A-13D-1705-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92a34fa-014e-4b41-a6d0-3b46b8c8a3ee	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chrX:30578233T>C	ENST00000378962.3	-	3	562	c.240A>G	c.(238-240)agA>agG	p.R80R		NM_025159.2	NP_079435.1	Q9HAI6	CX021_HUMAN	chromosome X open reading frame 21	80										kidney(1)|large_intestine(3)|lung(13)|ovary(1)|stomach(1)|urinary_tract(1)	20						GCACTGTGACTCTCTGACTTC	0.453													6	183					0	0	0.001984	0	0	C	30578233	T	C	30578233	2	2	95	1	0	0	0	0	0	0	0	1	4124	1548	54	3		3	CXorf21	23	30578233	Silent	SNP	T	TCGA-DU-6407-01A-13D-1705-08		30578233	124692327	28	19835											
ATRX	546	broad.mit.edu	37	X	76939340	76939343	+	Frame_Shift_Del	DEL	CTAC	CTAC	-			TCGA-DU-6407-01A-13D-1705-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92a34fa-014e-4b41-a6d0-3b46b8c8a3ee	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chrX:76939340_76939343delCTAC	ENST00000373344.5	-	9	1619_1622	c.1405_1408delGTAG	c.(1405-1410)gtagatfs	p.VD469fs	ATRX_ENST00000395603.3_Frame_Shift_Del_p.VD431fs|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	469					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)	TGCTCACTATCTACCTGTTTTCTT	0.358			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						132	279	---	---	---	---						-	76939343	CTAC	-	76939340	7	5	95	1	0	1	0	1	0	0	0	0	1206	913	32	0	6178	0	ATRX	23	76939340	Frame_Shift_Del	DEL	CTAC	TCGA-DU-6407-01A-13D-1705-08	46361107	76939340	78331220	29	19836											
HNRNPH2	3188	broad.mit.edu	37	X	100667035	100667035	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6407-01A-13D-1705-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92a34fa-014e-4b41-a6d0-3b46b8c8a3ee	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chrX:100667035G>T	ENST00000316594.5	+	2	137	c.59G>T	c.(58-60)tGg>tTg	p.W20L	RPL36A-HNRNPH2_ENST00000409170.3_3'UTR	NM_001032393.2|NM_001199973.1|NM_001199974.1|NM_019597.4	NP_001027565.1|NP_001186902.1|NP_001186903.1|NP_062543.1	P55795	HNRH2_HUMAN	heterogeneous nuclear ribonucleoprotein H2 (H')	20	RRM 1.				nuclear mRNA splicing, via spliceosome	actin cytoskeleton|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding			breast(3)|large_intestine(2)|lung(6)|skin(1)	12						GGCCTACCCTGGTCCTGCTCA	0.527													5	90					0.014758	0.0151012	0.014758	1	0	T	100667035	G	T	100667035	3	4	95	1	0	0	0	0	1	0	0	0	7308	1357	47	5	61	5	HNRNPH2	23	100667035	Missense_Mutation	SNP	G	TCGA-DU-6407-01A-13D-1705-08	23727695	100667035	54603525	30	19837											
SYCP1	6847	broad.mit.edu	37	1	115401333	115401333	+	Splice_Site	SNP	G	G	A			TCGA-DU-6408-01A-11D-1705-08	TCGA-DU-6408-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67078a7b-15c0-43ab-bad5-76fc5380b9c0	b9159ab9-3ee6-4378-904c-a643509294e6	g.chr1:115401333G>A	ENST00000369522.3	+	6	696		c.e6+1		SYCP1_ENST00000369518.1_Splice_Site	NM_001282541.1|NM_003176.2	NP_001269470.1|NP_003167.2	Q15431	SYCP1_HUMAN	synaptonemal complex protein 1						cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding		RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GGAACTGCAAGTATGACACAA	0.323													32	92					0	0	0.796494	0	0	A	115401333	G	A	115401333	5	1	96	1	0	0	0	0	0	0	1	0	15488	1043	36	2	475	2	SYCP1	1	115401333	Splice_Site	SNP	G	TCGA-DU-6408-01A-11D-1705-08		115401333	133849288	1	19838											
NES	10763	broad.mit.edu	37	1	156639260	156639263	+	Frame_Shift_Del	DEL	CTCC	CTCC	-			TCGA-DU-6408-01A-11D-1705-08	TCGA-DU-6408-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67078a7b-15c0-43ab-bad5-76fc5380b9c0	b9159ab9-3ee6-4378-904c-a643509294e6	g.chr1:156639260_156639263delCTCC	ENST00000368223.3	-	4	4849_4852	c.4717_4720delGGAG	c.(4717-4722)ggagacfs	p.GD1573fs		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	1573	Tail.				brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CTCCCTCGGTCTCCCTCAGAGACT	0.598													29	42	---	---	---	---						-	156639263	CTCC	-	156639260	7	5	96	1	0	1	0	1	0	0	0	0	10384	913	32	0	149	0	NES	1	156639260	Frame_Shift_Del	DEL	CTCC	TCGA-DU-6408-01A-11D-1705-08	41237927	156639260	92611361	2	19839											
RAB11FIP5	26056	broad.mit.edu	37	2	73315196	73315196	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6408-01A-11D-1705-08	TCGA-DU-6408-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67078a7b-15c0-43ab-bad5-76fc5380b9c0	b9159ab9-3ee6-4378-904c-a643509294e6	g.chr2:73315196T>C	ENST00000258098.6	-	3	1790	c.1550A>G	c.(1549-1551)gAc>gGc	p.D517G	RAB11FIP5_ENST00000493523.2_5'UTR	NM_015470.2	NP_056285.1	Q9BXF6	RFIP5_HUMAN	RAB11 family interacting protein 5 (class I)	517					protein transport	mitochondrial outer membrane|recycling endosome membrane	gamma-tubulin binding			biliary_tract(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	23						CTGAGTCGGGTCCTTGGCTTC	0.602													14	21					0	0	0.435327	0	0	C	73315196	T	C	73315196	3	2	96	1	0	0	0	0	1	0	0	0	12949	1667	58	3	423	3	RAB11FIP5	2	73315196	Missense_Mutation	SNP	T	TCGA-DU-6408-01A-11D-1705-08		73315196	169884177	3	19840											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-DU-6408-01A-11D-1705-08	TCGA-DU-6408-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67078a7b-15c0-43ab-bad5-76fc5380b9c0	b9159ab9-3ee6-4378-904c-a643509294e6	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	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								21	34					0	0	0.624587	0	0	T	209113112	C	T	209113112	3	4	96	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-DU-6408-01A-11D-1705-08	135797916	209113112	34086261	4	19841											
ZBTB20	26137	broad.mit.edu	37	3	114057857	114057857	+	Missense_Mutation	SNP	C	C	T	rs150263896		TCGA-DU-6408-01A-11D-1705-08	TCGA-DU-6408-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67078a7b-15c0-43ab-bad5-76fc5380b9c0	b9159ab9-3ee6-4378-904c-a643509294e6	g.chr3:114057857C>T	ENST00000462705.1	-	12	2823	c.2002G>A	c.(2002-2004)Gga>Aga	p.G668R	ZBTB20_ENST00000481632.1_Missense_Mutation_p.G668R|ZBTB20_ENST00000464560.1_Missense_Mutation_p.G668R|ZBTB20_ENST00000471418.1_Missense_Mutation_p.G668R|ZBTB20_ENST00000474710.1_Missense_Mutation_p.G741R|ZBTB20_ENST00000393785.2_Missense_Mutation_p.G668R|ZBTB20_ENST00000357258.3_Missense_Mutation_p.G668R	NM_001164343.1	NP_001157815.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	741					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		ACTACTTATCCGTCAGACACA	0.413													28	35					0	0	0.740014	0	0	T	114057857	C	T	114057857	3	4	96	1	0	0	0	0	1	0	0	0	17588	661	23	1	8	1	ZBTB20	3	114057857	Missense_Mutation	SNP	C	TCGA-DU-6408-01A-11D-1705-08		114057857	83964573	5	19842											
MED12L	116931	broad.mit.edu	37	3	150877703	150877703	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6408-01A-11D-1705-08	TCGA-DU-6408-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67078a7b-15c0-43ab-bad5-76fc5380b9c0	b9159ab9-3ee6-4378-904c-a643509294e6	g.chr3:150877703G>T	ENST00000474524.1	+	7	960	c.922G>T	c.(922-924)Gat>Tat	p.D308Y	MED12L_ENST00000273432.4_Intron|MED12L_ENST00000309237.4_Missense_Mutation_p.D308Y|MED12L_ENST00000422248.2_Missense_Mutation_p.D308Y	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	308					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GCTGCTGAGCGATAGCCCCAA	0.577													5	96					0.014758	0.0158121	0.184627	1	0	T	150877703	G	T	150877703	3	4	96	1	0	0	0	0	1	0	0	0	9479	1058	37	5	948	5	MED12L	3	150877703	Missense_Mutation	SNP	G	TCGA-DU-6408-01A-11D-1705-08	36819846	150877703	47144727	6	19843											
MUC4	4585	broad.mit.edu	37	3	195516420	195516420	+	Silent	SNP	C	C	T			TCGA-DU-6408-01A-11D-1705-08	TCGA-DU-6408-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67078a7b-15c0-43ab-bad5-76fc5380b9c0	b9159ab9-3ee6-4378-904c-a643509294e6	g.chr3:195516420C>T	ENST00000463781.3	-	2	2490	c.2031G>A	c.(2029-2031)tcG>tcA	p.S677S	MUC4_ENST00000475231.1_Silent_p.S677S|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	682					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		TTTCTGAGGGCGAGTGCCCAC	0.582													26	32					0	0	0.717897	0	0	T	195516420	C	T	195516420	2	4	96	1	0	0	0	0	0	0	0	1	10026	755	27	1		1	MUC4	3	195516420	Silent	SNP	C	TCGA-DU-6408-01A-11D-1705-08	44638717	195516420	2506010	7	19844											
DNAH5	1767	broad.mit.edu	37	5	13735963	13735963	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6408-01A-11D-1705-08	TCGA-DU-6408-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67078a7b-15c0-43ab-bad5-76fc5380b9c0	b9159ab9-3ee6-4378-904c-a643509294e6	g.chr5:13735963C>T	ENST00000265104.4	-	67	11638	c.11534G>A	c.(11533-11535)cGc>cAc	p.R3845H		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3845					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CAGAAACTGGCGAAGCGAAGT	0.468									Kartagener syndrome				4	89					0	0	0.184627	0	0	T	13735963	C	T	13735963	3	4	96	1	0	0	0	0	1	0	0	0	4632	768	27	1	2392	1	DNAH5	5	13735963	Missense_Mutation	SNP	C	TCGA-DU-6408-01A-11D-1705-08		13735963	167179297	8	19845											
PCDHGA5	56110	broad.mit.edu	37	5	140746018	140746018	+	Silent	SNP	C	C	T			TCGA-DU-6408-01A-11D-1705-08	TCGA-DU-6408-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67078a7b-15c0-43ab-bad5-76fc5380b9c0	b9159ab9-3ee6-4378-904c-a643509294e6	g.chr5:140746018C>T	ENST00000518069.1	+	1	2121	c.2121C>T	c.(2119-2121)ttC>ttT	p.F707F	PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1														endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCTGGCCTTCGTCATCGTGC	0.602													61	55					0	0	0.870114	0	0	T	140746018	C	T	140746018	2	4	96	1	0	0	0	0	0	0	0	1	11604	883	31	1		1	PCDHGA5	5	140746018	Silent	SNP	C	TCGA-DU-6408-01A-11D-1705-08	127010055	140746018	40169242	9	19846											
COL12A1	1303	broad.mit.edu	37	6	75887610	75887610	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6408-01A-11D-1705-08	TCGA-DU-6408-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67078a7b-15c0-43ab-bad5-76fc5380b9c0	b9159ab9-3ee6-4378-904c-a643509294e6	g.chr6:75887610T>C	ENST00000322507.8	-	12	2515	c.2206A>G	c.(2206-2208)Aca>Gca	p.T736A	COL12A1_ENST00000483888.2_Missense_Mutation_p.T736A|COL12A1_ENST00000416123.2_Missense_Mutation_p.T736A|COL12A1_ENST00000345356.6_Intron	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	736	Fibronectin type-III 4.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						AAACTATCTGTAGTCTCATCT	0.343													4	140					0	0	0.184627	0	0	C	75887610	T	C	75887610	3	2	96	1	0	0	0	0	1	0	0	0	3692	1638	57	3	7205	3	COL12A1	6	75887610	Missense_Mutation	SNP	T	TCGA-DU-6408-01A-11D-1705-08		75887610	95227457	10	19847											
SIM1	6492	broad.mit.edu	37	6	100868697	100868697	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6408-01A-11D-1705-08	TCGA-DU-6408-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67078a7b-15c0-43ab-bad5-76fc5380b9c0	b9159ab9-3ee6-4378-904c-a643509294e6	g.chr6:100868697T>C	ENST00000369208.3	-	10	1918	c.1136A>G	c.(1135-1137)aAg>aGg	p.K379R	SIM1_ENST00000262901.4_Missense_Mutation_p.K379R			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	379	Single-minded C-terminal.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		GGATTTTGACTTTGAGCTGGA	0.488													7	71					0	0	0.307466	0	0	C	100868697	T	C	100868697	3	2	96	1	0	0	0	0	1	0	0	0	14378	1609	56	3	1176	3	SIM1	6	100868697	Missense_Mutation	SNP	T	TCGA-DU-6408-01A-11D-1705-08	24981087	100868697	70246370	11	19848											
SLC26A7	115111	broad.mit.edu	37	8	92406210	92406210	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-6408-01A-11D-1705-08	TCGA-DU-6408-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67078a7b-15c0-43ab-bad5-76fc5380b9c0	b9159ab9-3ee6-4378-904c-a643509294e6	g.chr8:92406210G>C	ENST00000276609.3	+	18	2117	c.1878G>C	c.(1876-1878)gaG>gaC	p.E626D	SLC26A7_ENST00000520249.1_3'UTR|SLC26A7_ENST00000523719.1_Missense_Mutation_p.E626D|SLC26A7_ENST00000309536.2_Missense_Mutation_p.E626D	NM_001282356.1|NM_052832.2	NP_001269285.1|NP_439897.1	Q8TE54	S26A7_HUMAN	solute carrier family 26 (anion exchanger), member 7	626	STAS.					basolateral plasma membrane|integral to membrane|recycling endosome membrane	anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50			BRCA - Breast invasive adenocarcinoma(11;0.00802)			TAGACTCAGAGAAACCAATTT	0.343													9	118					0	0	0.335167	0	0	C	92406210	G	C	92406210	3	2	96	1	0	0	0	0	1	0	0	0	14577	933	33	4	1944	4	SLC26A7	8	92406210	Missense_Mutation	SNP	G	TCGA-DU-6408-01A-11D-1705-08		92406210	53957812	12	19849											
CCIN	881	broad.mit.edu	37	9	36170748	36170748	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6408-01A-11D-1705-08	TCGA-DU-6408-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67078a7b-15c0-43ab-bad5-76fc5380b9c0	b9159ab9-3ee6-4378-904c-a643509294e6	g.chr9:36170748G>A	ENST00000335119.2	+	1	1360	c.1249G>A	c.(1249-1251)Gcc>Acc	p.A417T		NM_005893.2	NP_005884.2	Q13939	CALI_HUMAN	calicin	417					cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton			breast(3)|endometrium(2)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(4)	21			STAD - Stomach adenocarcinoma(86;0.228)			GGATGGCACCGCCGTGATCAC	0.537													4	44					0	0	0.184627	0	0	A	36170748	G	A	36170748	3	1	96	1	0	0	0	0	1	0	0	0	2898	1087	38	1	1251	1	CCIN	9	36170748	Missense_Mutation	SNP	G	TCGA-DU-6408-01A-11D-1705-08		36170748	105042683	13	19850											
ECHS1	1892	broad.mit.edu	37	10	135183409	135183409	+	Splice_Site	SNP	G	G	A			TCGA-DU-6408-01A-11D-1705-08	TCGA-DU-6408-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67078a7b-15c0-43ab-bad5-76fc5380b9c0	b9159ab9-3ee6-4378-904c-a643509294e6	g.chr10:135183409G>A	ENST00000368547.3	-	3	768	c.413C>T	c.(412-414)gCc>gTc	p.A138V		NM_004092.3	NP_004083.3	P30084	ECHM_HUMAN	enoyl CoA hydratase, short chain, 1, mitochondrial	138				A -> P (in Ref. 1; BAA03001).	fatty acid beta-oxidation	mitochondrial matrix	enoyl-CoA hydratase activity|protein binding			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)|skin(1)	10		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		all cancers(32;1.62e-06)|OV - Ovarian serous cystadenocarcinoma(35;5.75e-06)|Epithelial(32;7.58e-06)		AACACTCACGGCATAGCCATT	0.493													3	41					0	0	0.115264	0	0	A	135183409	G	A	135183409	5	1	96	1	0	0	0	0	0	0	1	0	4922	1217	42	2	483	2	ECHS1	10	135183409	Splice_Site	SNP	G	TCGA-DU-6408-01A-11D-1705-08		135183409	351338	14	19851											
IFITM5	387733	broad.mit.edu	37	11	298552	298552	+	Silent	SNP	C	C	T			TCGA-DU-6408-01A-11D-1705-08	TCGA-DU-6408-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67078a7b-15c0-43ab-bad5-76fc5380b9c0	b9159ab9-3ee6-4378-904c-a643509294e6	g.chr11:298552C>T	ENST00000382614.2	-	2	383	c.348G>A	c.(346-348)aaG>aaA	p.K116K		NM_001025295.2	NP_001020466.1	A6NNB3	IFM5_HUMAN	interferon induced transmembrane protein 5	116					multicellular organismal development|regulation of bone mineralization|response to biotic stimulus	integral to membrane|plasma membrane				lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;5.73e-28)|Epithelial(43;3.42e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.14e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0328)|LUSC - Lung squamous cell carcinoma(625;0.122)		CGGCAGAGTCCTTGGCCAGCC	0.642													3	7					0	0	0.115264	0	0	T	298552	C	T	298552	2	4	96	1	0	0	0	0	0	0	0	1	7573	680	24	2		2	IFITM5	11	298552	Silent	SNP	C	TCGA-DU-6408-01A-11D-1705-08		298552	134707964	15	19852											
TAS2R9	50835	broad.mit.edu	37	12	10961751	10961751	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-6408-01A-11D-1705-08	TCGA-DU-6408-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67078a7b-15c0-43ab-bad5-76fc5380b9c0	b9159ab9-3ee6-4378-904c-a643509294e6	g.chr12:10961751C>G	ENST00000240691.2	-	1	1016	c.924G>C	c.(922-924)aaG>aaC	p.K308N		NM_023917.2	NP_076406.1	Q9NYW1	TA2R9_HUMAN	taste receptor, type 2, member 9	308					sensory perception of taste	integral to membrane	taste receptor activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						GAACAAAAGGCTTTCTTCTTC	0.368													22	67					0	0	0.608945	0	0	G	10961751	C	G	10961751	3	3	96	1	0	0	0	0	1	0	0	0	15645	796	28	4	18	4	TAS2R9	12	10961751	Missense_Mutation	SNP	C	TCGA-DU-6408-01A-11D-1705-08		10961751	122890144	16	19853											
KL	9365	broad.mit.edu	37	13	33638070	33638070	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6408-01A-11D-1705-08	TCGA-DU-6408-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67078a7b-15c0-43ab-bad5-76fc5380b9c0	b9159ab9-3ee6-4378-904c-a643509294e6	g.chr13:33638070G>A	ENST00000380099.3	+	5	2794	c.2786G>A	c.(2785-2787)cGt>cAt	p.R929H	KL_ENST00000487852.1_3'UTR	NM_004795.3	NP_004786.2	Q9UEF7	KLOT_HUMAN	klotho	929	Glycosyl hydrolase-1 2.				aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		GGCCTCTATCGTTATGCTGCA	0.448													18	92					0	0	0.520397	0	0	A	33638070	G	A	33638070	3	1	96	1	0	0	0	0	1	0	0	0	8374	1145	40	1	2804	1	KL	13	33638070	Missense_Mutation	SNP	G	TCGA-DU-6408-01A-11D-1705-08		33638070	81531808	17	19854											
AKAP6	9472	broad.mit.edu	37	14	33165315	33165315	+	Splice_Site	SNP	A	A	C			TCGA-DU-6408-01A-11D-1705-08	TCGA-DU-6408-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67078a7b-15c0-43ab-bad5-76fc5380b9c0	b9159ab9-3ee6-4378-904c-a643509294e6	g.chr14:33165315A>C	ENST00000280979.4	+	9	3169	c.2999A>C	c.(2998-3000)aAg>aCg	p.K1000T	AKAP6_ENST00000557272.1_Splice_Site_p.K1000T|AKAP6_ENST00000557354.1_Splice_Site_p.K1000T	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	1000					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		CATCTTTACAAGGTTAGAGCT	0.478													3	36					0	0	0.150653	0	0	C	33165315	A	C	33165315	5	2	96	1	0	0	0	0	0	0	1	0	452	86	3	5	3029	5	AKAP6	14	33165315	Splice_Site	SNP	A	TCGA-DU-6408-01A-11D-1705-08		33165315	74184225	18	19855											
CLEC18B	497190	broad.mit.edu	37	16	74443750	74443750	+	Splice_Site	SNP	C	C	T	rs149961754	byFrequency	TCGA-DU-6408-01A-11D-1705-08	TCGA-DU-6408-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67078a7b-15c0-43ab-bad5-76fc5380b9c0	b9159ab9-3ee6-4378-904c-a643509294e6	g.chr16:74443750C>T	ENST00000339953.5	-	11	1359	c.1238G>A	c.(1237-1239)gGg>gAg	p.G413E		NM_001011880.2	NP_001011880.2	Q6UXF7	CL18B_HUMAN	C-type lectin domain family 18, member B	413	C-type lectin.					extracellular region	sugar binding			endometrium(3)|kidney(9)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						CTCTGCCTACCCCATGGCAGC	0.637													4	22					0	0	0.150653	0	0	T	74443750	C	T	74443750	5	4	96	1	0	0	0	0	0	0	1	0	3526	637	22	2	141	2	CLEC18B	16	74443750	Splice_Site	SNP	C	TCGA-DU-6408-01A-11D-1705-08		74443750	15911003	19	19856											
PLCG2	5336	broad.mit.edu	37	16	81819709	81819709	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6408-01A-11D-1705-08	TCGA-DU-6408-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67078a7b-15c0-43ab-bad5-76fc5380b9c0	b9159ab9-3ee6-4378-904c-a643509294e6	g.chr16:81819709G>A	ENST00000359376.3	+	2	329	c.115G>A	c.(115-117)Gag>Aag	p.E39K		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	39	PH.				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						GTCCACCCCCGAGCGGAGAAC	0.592													6	16					0	0	0.307466	0	0	A	81819709	G	A	81819709	3	1	96	1	0	0	0	0	1	0	0	0	12084	1059	37	1	117	1	PLCG2	16	81819709	Missense_Mutation	SNP	G	TCGA-DU-6408-01A-11D-1705-08	7375959	81819709	8535044	20	19857											
TP53	7157	broad.mit.edu	37	17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	rs121913343		TCGA-DU-6408-01A-11D-1705-08	TCGA-DU-6408-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67078a7b-15c0-43ab-bad5-76fc5380b9c0	b9159ab9-3ee6-4378-904c-a643509294e6	g.chr17:7577121G>A	ENST00000420246.2	-	8	949	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron|TP53_ENST00000269305.4_Missense_Mutation_p.R273C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	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).		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.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			14	18					0	0	0.435327	0	0	A	7577121	G	A	7577121	3	1	96	1	0	0	0	0	1	0	0	0	16442	1087	38	1	469	1	TP53	17	7577121	Missense_Mutation	SNP	G	TCGA-DU-6408-01A-11D-1705-08		7577121	73618089	21	19858											
TP53	7157	broad.mit.edu	37	17	7577518	7577518	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6408-01A-11D-1705-08	TCGA-DU-6408-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67078a7b-15c0-43ab-bad5-76fc5380b9c0	b9159ab9-3ee6-4378-904c-a643509294e6	g.chr17:7577518T>A	ENST00000420246.2	-	7	895	c.763A>T	c.(763-765)Atc>Ttc	p.I255F	TP53_ENST00000445888.2_Missense_Mutation_p.I255F|TP53_ENST00000359597.4_Missense_Mutation_p.I255F|TP53_ENST00000455263.2_Missense_Mutation_p.I255F|TP53_ENST00000413465.2_Missense_Mutation_p.I255F|TP53_ENST00000269305.4_Missense_Mutation_p.I255F	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	255	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).		I -> F (in sporadic cancers; somatic mutation).|I -> M (in sporadic cancers; somatic mutation).|I -> N (in sporadic cancers; somatic mutation).|I -> S (in sporadic cancers; somatic mutation).|I -> T (in sporadic cancers; somatic mutation).|I -> V (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.I255F(20)|p.0?(8)|p.I255del(7)|p.I255fs*9(3)|p.I255V(3)|p.T253_I255del(2)|p.I255fs*8(1)|p.?(1)|p.I254fs*7(1)|p.I254_T256del(1)|p.R249_T256delRPILTIIT(1)|p.I255fs*90(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)		TCCAGTGTGATGATGGTGAGG	0.582		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)			16	15					0	0	0.520397	0	0	A	7577518	T	A	7577518	3	1	96	1	0	0	0	0	1	0	0	0	16442	1464	51	4	527	4	TP53	17	7577518	Missense_Mutation	SNP	T	TCGA-DU-6408-01A-11D-1705-08	397	7577518	73617692	22	19859											
SMCR8	140775	broad.mit.edu	37	17	18219589	18219589	+	Silent	SNP	G	G	A			TCGA-DU-6408-01A-11D-1705-08	TCGA-DU-6408-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67078a7b-15c0-43ab-bad5-76fc5380b9c0	b9159ab9-3ee6-4378-904c-a643509294e6	g.chr17:18219589G>A	ENST00000406438.3	+	1	966	c.486G>A	c.(484-486)caG>caA	p.Q162Q		NM_144775.2	NP_658988.2	Q8TEV9	SMCR8_HUMAN	Smith-Magenis syndrome chromosome region, candidate 8	162										breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21						CTGCAGACCAGCATAAAATCA	0.527													3	50					0	0	0.115264	0	0	A	18219589	G	A	18219589	2	1	96	1	0	0	0	0	0	0	0	1	14846	962	34	2		2	SMCR8	17	18219589	Silent	SNP	G	TCGA-DU-6408-01A-11D-1705-08	10642071	18219589	62975621	23	19860											
MAPT	4137	broad.mit.edu	37	17	44068858	44068858	+	Silent	SNP	G	G	A	rs147203016	by1000genomes	TCGA-DU-6408-01A-11D-1705-08	TCGA-DU-6408-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67078a7b-15c0-43ab-bad5-76fc5380b9c0	b9159ab9-3ee6-4378-904c-a643509294e6	g.chr17:44068858G>A	ENST00000344290.5	+	9	1735	c.1413G>A	c.(1411-1413)ccG>ccA	p.P471P	MAPT_ENST00000570299.1_3'UTR|MAPT_ENST00000431008.3_Silent_p.P154P|MAPT_ENST00000262410.5_Silent_p.P471P|MAPT_ENST00000576518.1_Silent_p.P85P|MAPT_ENST00000420682.2_Silent_p.P125P|MAPT_ENST00000340799.5_Silent_p.P125P|MAPT_ENST00000415613.2_Silent_p.P471P|MAPT_ENST00000574436.1_Silent_p.P154P|MAPT_ENST00000446361.3_Silent_p.P96P|MAPT_ENST00000535772.1_Silent_p.P154P|MAPT_ENST00000347967.5_Silent_p.P60P|MAPT_ENST00000334239.8_Silent_p.P96P|MAPT_ENST00000351559.5_Silent_p.P154P|MAPT_ENST00000571987.1_Silent_p.P471P	NM_001123066.3	NP_001116538.2	P10636	TAU_HUMAN	microtubule-associated protein tau	471					cellular component disassembly involved in apoptosis|microtubule cytoskeleton organization|negative regulation of microtubule depolymerization|positive regulation of axon extension|positive regulation of microtubule polymerization|regulation of autophagy	axon|cytosol|growth cone|microtubule|microtubule associated complex|nuclear periphery|plasma membrane|tubulin complex	apolipoprotein E binding|enzyme binding|identical protein binding|lipoprotein particle binding|microtubule binding|protein binding|SH3 domain binding|structural constituent of cytoskeleton			breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		Melanoma(429;0.216)				TCGCCACACCGCGGGGAGCAG	0.557													4	71					0	0	0.184627	0	0	A	44068858	G	A	44068858	2	1	96	1	0	0	0	0	0	0	0	1	9347	1074	38	1		1	MAPT	17	44068858	Silent	SNP	G	TCGA-DU-6408-01A-11D-1705-08	25849269	44068858	37126352	24	19861											
IGF2BP1	10642	broad.mit.edu	37	17	47122357	47122357	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6408-01A-11D-1705-08	TCGA-DU-6408-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67078a7b-15c0-43ab-bad5-76fc5380b9c0	b9159ab9-3ee6-4378-904c-a643509294e6	g.chr17:47122357C>T	ENST00000290341.3	+	12	1659	c.1325C>T	c.(1324-1326)gCa>gTa	p.A442V	IGF2BP1_ENST00000431824.2_Missense_Mutation_p.A303V	NM_006546.3	NP_006537.3	Q9NZI8	IF2B1_HUMAN	insulin-like growth factor 2 mRNA binding protein 1	442	KH 3.|Necessary for interaction with ELAVL4 and binding to TAU mRNA (By similarity).				CRD-mediated mRNA stabilization|negative regulation of translation|regulation of mRNA stability involved in response to stress	CRD-mediated mRNA stability complex|cytosol|dendritic spine|lamellipodium|nucleus|plasma membrane|stress granule	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						TTTTAGATTGCACCACCCGAA	0.478													28	65					0	0	0.729181	0	0	T	47122357	C	T	47122357	3	4	96	1	0	0	0	0	1	0	0	0	7617	710	25	2	1371	2	IGF2BP1	17	47122357	Missense_Mutation	SNP	C	TCGA-DU-6408-01A-11D-1705-08	3053499	47122357	34072853	25	19862											
OLFM2	93145	broad.mit.edu	37	19	9965171	9965171	+	Silent	SNP	C	C	T			TCGA-DU-6408-01A-11D-1705-08	TCGA-DU-6408-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67078a7b-15c0-43ab-bad5-76fc5380b9c0	b9159ab9-3ee6-4378-904c-a643509294e6	g.chr19:9965171C>T	ENST00000264833.4	-	6	1241	c.1056G>A	c.(1054-1056)ccG>ccA	p.P352P	OLFM2_ENST00000590841.1_Silent_p.P274P	NM_058164.2	NP_477512.1	O95897	NOE2_HUMAN	olfactomedin 2	352	Olfactomedin-like.					extracellular region		p.P352P(1)		breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	31						CGAGGGTGTGCGGGTCCAGCC	0.642													3	42					0	0	0.115264	0	0	T	9965171	C	T	9965171	2	4	96	1	0	0	0	0	0	0	0	1	10901	755	27	1		1	OLFM2	19	9965171	Silent	SNP	C	TCGA-DU-6408-01A-11D-1705-08		9965171	49163812	26	19863											
PKN1	5585	broad.mit.edu	37	19	14568915	14568915	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6408-01A-11D-1705-08	TCGA-DU-6408-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67078a7b-15c0-43ab-bad5-76fc5380b9c0	b9159ab9-3ee6-4378-904c-a643509294e6	g.chr19:14568915A>T	ENST00000242783.6	+	8	1403	c.1238A>T	c.(1237-1239)aAt>aTt	p.N413I	PKN1_ENST00000342216.4_Missense_Mutation_p.N419I	NM_002741.3	NP_002732.3	Q16512	PKN1_HUMAN	protein kinase N1	413	C2.				activation of JUN kinase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	endosome|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|GTP-Rho binding|histone binding|histone deacetylase binding|histone kinase activity (H3-T11 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|Rac GTPase binding			breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)	31						TGTGGCCCCAATGCCTGGGAC	0.592													6	77					0	0	0.217242	0	0	T	14568915	A	T	14568915	3	4	96	1	0	0	0	0	1	0	0	0	12027	101	4	4	1311	4	PKN1	19	14568915	Missense_Mutation	SNP	A	TCGA-DU-6408-01A-11D-1705-08	4603744	14568915	44560068	27	19864											
ZNF765	91661	broad.mit.edu	37	19	53911501	53911501	+	Silent	SNP	G	G	A			TCGA-DU-6408-01A-11D-1705-08	TCGA-DU-6408-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67078a7b-15c0-43ab-bad5-76fc5380b9c0	b9159ab9-3ee6-4378-904c-a643509294e6	g.chr19:53911501G>A	ENST00000396408.3	+	4	810	c.693G>A	c.(691-693)agG>agA	p.R231R	ZNF765_ENST00000594030.1_Intron	NM_001040185.1	NP_001035275.1	Q7L2R6	ZN765_HUMAN	zinc finger protein 765	231					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|lung(3)	4				GBM - Glioblastoma multiforme(134;0.00379)		CACTCTTAAGGAAACATCAGT	0.368													3	28					0	0	0.115264	0	0	A	53911501	G	A	53911501	2	1	96	1	0	0	0	0	0	0	0	1	18189	1165	41	2		2	ZNF765	19	53911501	Silent	SNP	G	TCGA-DU-6408-01A-11D-1705-08	39342586	53911501	5217482	28	19865											
BAGE2	85319	broad.mit.edu	37	21	11098763	11098763	+	RNA	SNP	C	C	A	rs73891538		TCGA-DU-6408-01A-11D-1705-08	TCGA-DU-6408-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67078a7b-15c0-43ab-bad5-76fc5380b9c0	b9159ab9-3ee6-4378-904c-a643509294e6	g.chr21:11098763C>A	ENST00000470054.1	-	0	162									B melanoma antigen family, member 2															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)		ccactcctaccgctcaggccg	0.622													11	26					6.40141e-05	7.02594e-05	0.38729	1	0	A	11098763	C	A	11098763	1	1	96	0	1	0	0	0	0	0	0	0	1290	667	23	5		5	BAGE2	21	11098763	RNA	SNP	C	TCGA-DU-6408-01A-11D-1705-08		11098763	37031132	29	19866											
CHAF1B	8208	broad.mit.edu	37	21	37787682	37787682	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6408-01A-11D-1705-08	TCGA-DU-6408-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67078a7b-15c0-43ab-bad5-76fc5380b9c0	b9159ab9-3ee6-4378-904c-a643509294e6	g.chr21:37787682A>G	ENST00000314103.5	+	13	1734	c.1583A>G	c.(1582-1584)cAg>cGg	p.Q528R		NM_005441.2	NP_005432.1	Q13112	CAF1B_HUMAN	chromatin assembly factor 1, subunit B (p60)						cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|cytoplasm	chromatin binding|histone binding|unfolded protein binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(2)	20						GAAGAAATTCAGTCAGGTAAG	0.343													3	89					0	0	0.115264	0	0	G	37787682	A	G	37787682	3	3	96	1	0	0	0	0	1	0	0	0	3334	188	7	3	1629	3	CHAF1B	21	37787682	Missense_Mutation	SNP	A	TCGA-DU-6408-01A-11D-1705-08	26688919	37787682	10342213	30	19867											
RAC2	5880	broad.mit.edu	37	22	37627415	37627415	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6408-01A-11D-1705-08	TCGA-DU-6408-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67078a7b-15c0-43ab-bad5-76fc5380b9c0	b9159ab9-3ee6-4378-904c-a643509294e6	g.chr22:37627415G>A	ENST00000249071.6	-	5	425	c.304C>T	c.(304-306)Cgg>Tgg	p.R102W	RAC2_ENST00000406508.1_Missense_Mutation_p.R58W|RAC2_ENST00000405484.1_Missense_Mutation_p.R95W	NM_002872.3	NP_002863.1	P15153	RAC2_HUMAN	ras-related C3 botulinum toxin substrate 2 (rho family, small GTP binding protein Rac2)	102					axon guidance|platelet activation|regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding|GTPase activity|protein binding			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(2)|upper_aerodigestive_tract(1)	12						CAGTGGTGCCGCACTTCTGGG	0.627													23	20					0	0	0.693898	0	0	A	37627415	G	A	37627415	3	1	96	1	0	0	0	0	1	0	0	0	13027	1086	38	1	282	1	RAC2	22	37627415	Missense_Mutation	SNP	G	TCGA-DU-6408-01A-11D-1705-08		37627415	13677151	31	19868											
ATRX	546	broad.mit.edu	37	X	76874371	76874371	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6408-01A-11D-1705-08	TCGA-DU-6408-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67078a7b-15c0-43ab-bad5-76fc5380b9c0	b9159ab9-3ee6-4378-904c-a643509294e6	g.chrX:76874371A>C	ENST00000373344.5	-	21	5565	c.5351T>G	c.(5350-5352)aTt>aGt	p.I1784S	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.I1746S	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1784					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)	ACCATTTTGAATTGGATTTAT	0.343			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						36	64					0	0	0.796494	0	0	C	76874371	A	C	76874371	3	2	96	1	0	0	0	0	1	0	0	0	1206	101	4	4	2187	4	ATRX	23	76874371	Missense_Mutation	SNP	A	TCGA-DU-6408-01A-11D-1705-08		76874371	78396189	32	19869			1	3		2	2	63	A		6.609001e-05
ATRX	546	broad.mit.edu	37	X	76874433	76874433	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6408-01A-11D-1705-08	TCGA-DU-6408-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67078a7b-15c0-43ab-bad5-76fc5380b9c0	b9159ab9-3ee6-4378-904c-a643509294e6	g.chrX:76874433A>C	ENST00000373344.5	-	21	5503	c.5289T>G	c.(5287-5289)aaT>aaG	p.N1763K	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.N1725K	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1763	Helicase ATP-binding.				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)	CCTTGATAAAATTAACCATAC	0.308			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						17	39					0	0	0.520397	0	0	C	76874433	A	C	76874433	3	2	96	1	0	0	0	0	1	0	0	0	1206	98	4	4	2249	4	ATRX	23	76874433	Missense_Mutation	SNP	A	TCGA-DU-6408-01A-11D-1705-08	62	76874433	78396127	33	19870			1	3		2	2	63	A		6.609001e-05
UBE4B	10277	broad.mit.edu	37	1	10182079	10182079	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6410-01A-11D-1893-08	TCGA-DU-6410-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f978b356-f9ee-415d-b39c-a8ef1b221734	2b140fc8-fb90-4bf3-93e2-ce81a83a703a	g.chr1:10182079G>A	ENST00000377157.3	+	9	1825	c.764G>A	c.(763-765)gGc>gAc	p.G255D	UBE4B_ENST00000253251.8_Missense_Mutation_p.G371D|UBE4B_ENST00000475795.1_3'UTR|UBE4B_ENST00000343090.6_Missense_Mutation_p.G500D	NM_006048.4	NP_006039.2	O95155	UBE4B_HUMAN	ubiquitination factor E4B	500					apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV	cytoplasm|ubiquitin ligase complex	enzyme binding			NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	48		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)		CTCCCATATGGCTTCATTCAG	0.493													12	66					0	0	0.435327	0	0	A	10182079	G	A	10182079	3	1	97	1	0	0	0	0	1	0	0	0	16944	1203	42	2	1537	2	UBE4B	1	10182079	Missense_Mutation	SNP	G	TCGA-DU-6410-01A-11D-1893-08		10182079	239068542	1	19871											
EXTL1	2134	broad.mit.edu	37	1	26361731	26361731	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6410-01A-11D-1893-08	TCGA-DU-6410-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f978b356-f9ee-415d-b39c-a8ef1b221734	2b140fc8-fb90-4bf3-93e2-ce81a83a703a	g.chr1:26361731T>C	ENST00000374280.3	+	11	2791	c.1924T>C	c.(1924-1926)Ttc>Ctc	p.F642L		NM_004455.2	NP_004446.2	Q92935	EXTL1_HUMAN	exostosin-like glycosyltransferase 1	642					skeletal system development	integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|stomach(1)|urinary_tract(1)	23		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;6.44e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00594)|READ - Rectum adenocarcinoma(331;0.0649)		AGCGGCAGCGTTCGGCCACAT	0.642													45	7					0	0	0.870114	0	0	C	26361731	T	C	26361731	3	2	97	1	0	0	0	0	1	0	0	0	5353	1725	60	3	1966	3	EXTL1	1	26361731	Missense_Mutation	SNP	T	TCGA-DU-6410-01A-11D-1893-08	16179652	26361731	222888890	2	19872											
ARID1A	8289	broad.mit.edu	37	1	27101342	27101342	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6410-01A-11D-1893-08	TCGA-DU-6410-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f978b356-f9ee-415d-b39c-a8ef1b221734	2b140fc8-fb90-4bf3-93e2-ce81a83a703a	g.chr1:27101342G>T	ENST00000324856.7	+	18	4995	c.4624G>T	c.(4624-4626)Gaa>Taa	p.E1542*	ARID1A_ENST00000374152.2_Nonsense_Mutation_p.E1159*|ARID1A_ENST00000457599.2_Intron|ARID1A_ENST00000540690.1_Intron	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1542					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	p.E1542*(1)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GGCCAACCACGAAGGCTCGTG	0.642			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"								42	4					1.62957e-23	1.80734e-23	0.840704	1	0	T	27101342	G	T	27101342	4	4	97	1	0	0	0	0	0	1	0	0	910	1059	37	5	4694	5	ARID1A	1	27101342	Nonsense_Mutation	SNP	G	TCGA-DU-6410-01A-11D-1893-08	739611	27101342	222149279	3	19873											
CDC20	991	broad.mit.edu	37	1	43824985	43824985	+	Silent	SNP	G	G	A			TCGA-DU-6410-01A-11D-1893-08	TCGA-DU-6410-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f978b356-f9ee-415d-b39c-a8ef1b221734	2b140fc8-fb90-4bf3-93e2-ce81a83a703a	g.chr1:43824985G>A	ENST00000372462.1	+	1	302	c.99G>A	c.(97-99)aaG>aaA	p.K33K	CDC20_ENST00000310955.6_Silent_p.K33K			Q12834	CDC20_HUMAN	cell division cycle 20	33					activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of synapse maturation|positive regulation of synaptic plasticity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle	cytosol|nucleoplasm|spindle	enzyme binding|protein C-terminus binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	15	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GCAAAGCCAAGGAAGCCGCAG	0.677													4	37					0	0	0.184627	0	0	A	43824985	G	A	43824985	2	1	97	1	0	0	0	0	0	0	0	1	3081	991	35	2		2	CDC20	1	43824985	Silent	SNP	G	TCGA-DU-6410-01A-11D-1893-08	16723643	43824985	205425636	4	19874											
INTS3	65123	broad.mit.edu	37	1	153745465	153745465	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6410-01A-11D-1893-08	TCGA-DU-6410-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f978b356-f9ee-415d-b39c-a8ef1b221734	2b140fc8-fb90-4bf3-93e2-ce81a83a703a	g.chr1:153745465C>T	ENST00000456435.1	+	28	3725	c.2539C>T	c.(2539-2541)Cgg>Tgg	p.R847W	INTS3_ENST00000476843.1_3'UTR|INTS3_ENST00000318967.2_Missense_Mutation_p.R987W|INTS3_ENST00000435409.2_Missense_Mutation_p.R987W|INTS3_ENST00000512605.1_Missense_Mutation_p.R847W			Q68E01	INT3_HUMAN	integrator complex subunit 3	988					DNA repair|G2/M transition checkpoint|response to ionizing radiation|snRNA processing	integrator complex|SOSS complex	protein binding			breast(1)|cervix(4)|endometrium(10)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			ACCCAAGAGCCGGCGAAAAGC	0.557													59	92					0	0	0.870114	0	0	T	153745465	C	T	153745465	3	4	97	1	0	0	0	0	1	0	0	0	7823	643	23	1	3073	1	INTS3	1	153745465	Missense_Mutation	SNP	C	TCGA-DU-6410-01A-11D-1893-08	109920480	153745465	95505156	5	19875											
KCNN3	3782	broad.mit.edu	37	1	154842348	154842348	+	Silent	SNP	C	C	T			TCGA-DU-6410-01A-11D-1893-08	TCGA-DU-6410-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f978b356-f9ee-415d-b39c-a8ef1b221734	2b140fc8-fb90-4bf3-93e2-ce81a83a703a	g.chr1:154842348C>T	ENST00000271915.4	-	1	408	c.93G>A	c.(91-93)caG>caA	p.Q31Q		NM_001204087.1|NM_002249.5	NP_001191016.1|NP_002240.3	Q9UGI6	KCNN3_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3		Poly-Gln.					integral to membrane	calmodulin binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)			gctgctgctgctgctgctCAT	0.672													3	6					0	0	0.115264	0	0	T	154842348	C	T	154842348	2	4	97	1	0	0	0	0	0	0	0	1	8124	796	28	2		2	KCNN3	1	154842348	Silent	SNP	C	TCGA-DU-6410-01A-11D-1893-08	1096883	154842348	94408273	6	19876											
FMN2	56776	broad.mit.edu	37	1	240371098	240371098	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6410-01A-11D-1893-08	TCGA-DU-6410-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f978b356-f9ee-415d-b39c-a8ef1b221734	2b140fc8-fb90-4bf3-93e2-ce81a83a703a	g.chr1:240371098G>A	ENST00000319653.9	+	5	3216	c.2986G>A	c.(2986-2988)Ggc>Agc	p.G996S		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	996	FH1.|Pro-rich.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			TCCCGGAGCGGGCATACCCCC	0.706													3	40					0	0	0.115264	0	0	A	240371098	G	A	240371098	3	1	97	1	0	0	0	0	1	0	0	0	5983	1232	43	2	3004	2	FMN2	1	240371098	Missense_Mutation	SNP	G	TCGA-DU-6410-01A-11D-1893-08	85528750	240371098	8879523	7	19877											
EDAR	10913	broad.mit.edu	37	2	109539871	109539871	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6410-01A-11D-1893-08	TCGA-DU-6410-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f978b356-f9ee-415d-b39c-a8ef1b221734	2b140fc8-fb90-4bf3-93e2-ce81a83a703a	g.chr2:109539871C>T	ENST00000409271.1	-	6	838	c.395G>A	c.(394-396)gGc>gAc	p.G132D	EDAR_ENST00000376651.1_Missense_Mutation_p.G132D|EDAR_ENST00000258443.2_Missense_Mutation_p.G132D			Q9UNE0	EDAR_HUMAN	ectodysplasin A receptor	132					apoptosis|cell differentiation	integral to membrane	protein binding|transmembrane receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16						GCAGACCATGCCATAGATGTT	0.542													52	74					0	0	0.870114	0	0	T	109539871	C	T	109539871	3	4	97	1	0	0	0	0	1	0	0	0	4931	739	26	2	983	2	EDAR	2	109539871	Missense_Mutation	SNP	C	TCGA-DU-6410-01A-11D-1893-08		109539871	133659502	8	19878											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-DU-6410-01A-11D-1893-08	TCGA-DU-6410-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f978b356-f9ee-415d-b39c-a8ef1b221734	2b140fc8-fb90-4bf3-93e2-ce81a83a703a	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								25	40					0	0	0.706142	0	0	T	209113112	C	T	209113112	3	4	97	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-DU-6410-01A-11D-1893-08	99573241	209113112	34086261	9	19879											
TATDN2	9797	broad.mit.edu	37	3	10291133	10291135	+	In_Frame_Del	DEL	CTT	CTT	-	rs148201381		TCGA-DU-6410-01A-11D-1893-08	TCGA-DU-6410-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f978b356-f9ee-415d-b39c-a8ef1b221734	2b140fc8-fb90-4bf3-93e2-ce81a83a703a	g.chr3:10291133_10291135delCTT	ENST00000287652.4	+	2	1300_1302	c.249_251delCTT	c.(247-252)tccttc>tcc	p.F84del	RP11-438J1.1_ENST00000450534.1_In_Frame_Del_p.F27del|TATDN2_ENST00000448281.2_In_Frame_Del_p.F84del	NM_014760.3	NP_055575.3	Q93075	TATD2_HUMAN	TatD DNase domain containing 2	84						nucleus	endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding	p.F84fs*19(1)		autonomic_ganglia(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(9)|pancreas(2)|prostate(1)|stomach(2)	28						CCTCCTCCTCCTTCTCCCCACAT	0.631													61	334	---	---	---	---						-	10291135	CTT	-	10291133	7	5	97	1	0	1	0	1	0	0	0	0	15649	668	24	0	251	0	TATDN2	3	10291133	In_Frame_Del	DEL	CTT	TCGA-DU-6410-01A-11D-1893-08		10291133	187731297	10	19880											
EPHA3	2042	broad.mit.edu	37	3	89498454	89498454	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6410-01A-11D-1893-08	TCGA-DU-6410-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f978b356-f9ee-415d-b39c-a8ef1b221734	2b140fc8-fb90-4bf3-93e2-ce81a83a703a	g.chr3:89498454G>T	ENST00000336596.2	+	14	2651	c.2426G>T	c.(2425-2427)aGt>aTt	p.S809I	EPHA3_ENST00000494014.1_Missense_Mutation_p.S809I	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	809	Protein kinase.					extracellular region|integral to plasma membrane	ATP binding			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		GATGTATGGAGTTATGGGATT	0.448										TSP Lung(6;0.00050)			53	66					3.73128e-16	4.06443e-16	0.870114	1	0	T	89498454	G	T	89498454	3	4	97	1	0	0	0	0	1	0	0	0	5196	1029	36	4	2506	4	EPHA3	3	89498454	Missense_Mutation	SNP	G	TCGA-DU-6410-01A-11D-1893-08	79207321	89498454	108523976	11	19881											
HHLA2	11148	broad.mit.edu	37	3	108074123	108074123	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6410-01A-11D-1893-08	TCGA-DU-6410-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f978b356-f9ee-415d-b39c-a8ef1b221734	2b140fc8-fb90-4bf3-93e2-ce81a83a703a	g.chr3:108074123T>C	ENST00000357759.5	+	5	994	c.580T>C	c.(580-582)Tct>Cct	p.S194P	HHLA2_ENST00000467761.1_Missense_Mutation_p.S194P|HHLA2_ENST00000467562.1_Missense_Mutation_p.S130P|HHLA2_ENST00000491820.1_Missense_Mutation_p.S194P|HHLA2_ENST00000489514.2_Missense_Mutation_p.S194P	NM_007072.2	NP_009003.1	Q9UM44	HHLA2_HUMAN	HERV-H LTR-associating 2	194	Ig-like C1-type.					integral to membrane				endometrium(2)|large_intestine(1)|lung(14)|ovary(1)	18						GGATTCTTTTTCTATTAACAG	0.388													10	71					0	0	0.38729	0	0	C	108074123	T	C	108074123	3	2	97	1	0	0	0	0	1	0	0	0	7136	1783	62	3	590	3	HHLA2	3	108074123	Missense_Mutation	SNP	T	TCGA-DU-6410-01A-11D-1893-08	18575669	108074123	89948307	12	19882											
MUC4	4585	broad.mit.edu	37	3	195515511	195515511	+	Silent	SNP	G	G	A			TCGA-DU-6410-01A-11D-1893-08	TCGA-DU-6410-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f978b356-f9ee-415d-b39c-a8ef1b221734	2b140fc8-fb90-4bf3-93e2-ce81a83a703a	g.chr3:195515511G>A	ENST00000463781.3	-	2	3399	c.2940C>T	c.(2938-2940)acC>acT	p.T980T	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Silent_p.T980T	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	985	Ser-rich.				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		AGGAAGCGTAGGTGACAGGAA	0.572													9	24					0	0	0.38729	0	0	A	195515511	G	A	195515511	2	1	97	1	0	0	0	0	0	0	0	1	10026	987	35	2		2	MUC4	3	195515511	Silent	SNP	G	TCGA-DU-6410-01A-11D-1893-08	87441388	195515511	2506919	13	19883											
RBPJ	3516	broad.mit.edu	37	4	26422326	26422326	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6410-01A-11D-1893-08	TCGA-DU-6410-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f978b356-f9ee-415d-b39c-a8ef1b221734	2b140fc8-fb90-4bf3-93e2-ce81a83a703a	g.chr4:26422326C>T	ENST00000342320.4	+	5	648	c.472C>T	c.(472-474)Cag>Tag	p.Q158*	RBPJ_ENST00000504907.1_Nonsense_Mutation_p.Q158*|RBPJ_ENST00000345843.3_Nonsense_Mutation_p.Q157*|RBPJ_ENST00000342295.1_Nonsense_Mutation_p.Q172*|RBPJ_ENST00000507561.1_Nonsense_Mutation_p.Q137*|RBPJ_ENST00000355476.3_Nonsense_Mutation_p.Q158*|RBPJ_ENST00000361572.6_Nonsense_Mutation_p.Q172*|RBPJ_ENST00000348160.4_Nonsense_Mutation_p.Q159*			Q06330	SUH_HUMAN	recombination signal binding protein for immunoglobulin kappa J region	172					DNA recombination|negative regulation of transcription, DNA-dependent|positive regulation of transcription of Notch receptor target	cytoplasm|nucleolus|nucleoplasm	DNA binding|protein binding|recombinase activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)	15		Breast(46;0.0503)				CAAAAAGAAGCAGTCATTGAA	0.363													24	3					0	0	0.667858	0	0	T	26422326	C	T	26422326	4	4	97	1	0	0	0	0	0	1	0	0	13213	711	25	2	595	2	RBPJ	4	26422326	Nonsense_Mutation	SNP	C	TCGA-DU-6410-01A-11D-1893-08		26422326	164731950	14	19884											
ALB	213	broad.mit.edu	37	4	74280861	74280861	+	Missense_Mutation	SNP	C	C	T	rs141343001		TCGA-DU-6410-01A-11D-1893-08	TCGA-DU-6410-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f978b356-f9ee-415d-b39c-a8ef1b221734	2b140fc8-fb90-4bf3-93e2-ce81a83a703a	g.chr4:74280861C>T	ENST00000295897.4	+	9	1257	c.1168C>T	c.(1168-1170)Cct>Tct	p.P390S	ALB_ENST00000503124.1_Missense_Mutation_p.P240S|ALB_ENST00000509063.1_Missense_Mutation_p.P390S|ALB_ENST00000401494.3_Missense_Mutation_p.P275S|ALB_ENST00000415165.2_Missense_Mutation_p.P198S|ALB_ENST00000505649.1_3'UTR	NM_000477.5	NP_000468.1	P02768	ALBU_HUMAN	albumin	390	Albumin 2.				bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport	extracellular space|platelet alpha granule lumen|protein complex	antioxidant activity|chaperone binding|copper ion binding|DNA binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding	p.P390S(1)		NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	48	Breast(15;0.00102)		Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin iodonated(DB00064)|Serum albumin(DB00096)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137)	CGCTGCAGATCCTCATGAATG	0.398													40	5					0	0	0.847076	0	0	T	74280861	C	T	74280861	3	4	97	1	0	0	0	0	1	0	0	0	483	855	30	2	1202	2	ALB	4	74280861	Missense_Mutation	SNP	C	TCGA-DU-6410-01A-11D-1893-08	47858535	74280861	116873415	15	19885											
TARS	6897	broad.mit.edu	37	5	33445453	33445453	+	Silent	SNP	A	A	G			TCGA-DU-6410-01A-11D-1893-08	TCGA-DU-6410-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f978b356-f9ee-415d-b39c-a8ef1b221734	2b140fc8-fb90-4bf3-93e2-ce81a83a703a	g.chr5:33445453A>G	ENST00000265112.3	+	2	392	c.81A>G	c.(79-81)caA>caG	p.Q27Q	TARS_ENST00000541634.1_5'UTR|TARS_ENST00000502553.1_Silent_p.Q27Q|TARS_ENST00000414361.2_5'UTR|TARS_ENST00000455217.2_Silent_p.Q27Q	NM_152295.4	NP_689508.3	P26639	SYTC_HUMAN	threonyl-tRNA synthetase	27					threonyl-tRNA aminoacylation	cytosol	ATP binding|protein homodimerization activity|threonine-tRNA ligase activity			NS(1)|biliary_tract(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)	29					L-Threonine(DB00156)	AAGAGAAGCAAAAGGAAGGAG	0.423													4	16					0	0	0.150653	0	0	G	33445453	A	G	33445453	2	3	97	1	0	0	0	0	0	0	0	1	15616	11	1	3		3	TARS	5	33445453	Silent	SNP	A	TCGA-DU-6410-01A-11D-1893-08		33445453	147469807	16	19886											
MATR3	9782	broad.mit.edu	37	5	138643853	138643853	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6410-01A-11D-1893-08	TCGA-DU-6410-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f978b356-f9ee-415d-b39c-a8ef1b221734	2b140fc8-fb90-4bf3-93e2-ce81a83a703a	g.chr5:138643853A>G	ENST00000394800.2	+	6	1298	c.749A>G	c.(748-750)tAt>tGt	p.Y250C	MATR3_ENST00000502929.1_Missense_Mutation_p.Y250C|MATR3_ENST00000361059.2_Missense_Mutation_p.Y250C|MATR3_ENST00000510056.1_Missense_Mutation_p.Y250C|MATR3_ENST00000509990.1_Missense_Mutation_p.Y250C|MATR3_ENST00000503811.1_Intron|MATR3_ENST00000502499.1_Intron|MATR3_ENST00000504203.1_Intron|MATR3_ENST00000394805.3_Missense_Mutation_p.Y250C			P43243	MATR3_HUMAN	matrin 3	250						nuclear inner membrane|nuclear matrix	nucleotide binding|protein binding|RNA binding|structural molecule activity|zinc ion binding			breast(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			GACAGTGAGTATGAGAGAATG	0.418													22	58					0	0	0.624587	0	0	G	138643853	A	G	138643853	3	3	97	1	0	0	0	0	1	0	0	0	9387	449	16	3	751	3	MATR3	5	138643853	Missense_Mutation	SNP	A	TCGA-DU-6410-01A-11D-1893-08	105198400	138643853	42271407	17	19887											
EHMT2	10919	broad.mit.edu	37	6	31856769	31856769	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6410-01A-11D-1893-08	TCGA-DU-6410-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f978b356-f9ee-415d-b39c-a8ef1b221734	2b140fc8-fb90-4bf3-93e2-ce81a83a703a	g.chr6:31856769C>T	ENST00000395728.3	-	9	1363	c.1364G>A	c.(1363-1365)gGg>gAg	p.G455E	EHMT2_ENST00000480912.1_5'UTR|EHMT2_ENST00000375528.4_Intron|EHMT2_ENST00000375530.4_Intron|EHMT2_ENST00000375537.4_Missense_Mutation_p.G398E			Q96KQ7	EHMT2_HUMAN	euchromatic histone-lysine N-methyltransferase 2	398					DNA methylation|peptidyl-lysine dimethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	21						GGAGAGGGTCCCCTCGCTGGG	0.632													14	11					0	0	0.520397	0	0	T	31856769	C	T	31856769	3	4	97	1	0	0	0	0	1	0	0	0	5010	623	22	2	2515	2	EHMT2	6	31856769	Missense_Mutation	SNP	C	TCGA-DU-6410-01A-11D-1893-08		31856769	139258298	18	19888											
MTO1	25821	broad.mit.edu	37	6	74191908	74191908	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6410-01A-11D-1893-08	TCGA-DU-6410-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f978b356-f9ee-415d-b39c-a8ef1b221734	2b140fc8-fb90-4bf3-93e2-ce81a83a703a	g.chr6:74191908G>A	ENST00000498286.1	+	8	1683	c.1406G>A	c.(1405-1407)cGa>cAa	p.R469Q	MTO1_ENST00000415954.2_Missense_Mutation_p.R509Q|MTO1_ENST00000370305.1_Missense_Mutation_p.R420Q|MTO1_ENST00000370300.4_Missense_Mutation_p.R494Q			Q9Y2Z2	MTO1_HUMAN	mitochondrial tRNA translation optimization 1	494					tRNA processing	mitochondrion	flavin adenine dinucleotide binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)	27						TTTACCAGCCGAGTAGAGTTC	0.527													7	72					0	0	0.248553	0	0	A	74191908	G	A	74191908	3	1	97	1	0	0	0	0	1	0	0	0	10001	1058	37	1	1639	1	MTO1	6	74191908	Missense_Mutation	SNP	G	TCGA-DU-6410-01A-11D-1893-08	42335139	74191908	96923159	19	19889											
KIAA1244	57221	broad.mit.edu	37	6	138657616	138657616	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6410-01A-11D-1893-08	TCGA-DU-6410-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f978b356-f9ee-415d-b39c-a8ef1b221734	2b140fc8-fb90-4bf3-93e2-ce81a83a703a	g.chr6:138657616T>C	ENST00000251691.4	+	34	6693	c.6527T>C	c.(6526-6528)aTt>aCt	p.I2176T		NM_020340.4	NP_065073.3	Q5TH69	BIG3_HUMAN	KIAA1244	2176					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		TATGACATCATTGTGTAGCCG	0.552													39	42					0	0	0.796494	0	0	C	138657616	T	C	138657616	3	2	97	1	0	0	0	0	1	0	0	0	8259	1493	52	3	6661	3	KIAA1244	6	138657616	Missense_Mutation	SNP	T	TCGA-DU-6410-01A-11D-1893-08	64465708	138657616	32457451	20	19890											
EGFR	1956	broad.mit.edu	37	7	55221822	55221822	+	Missense_Mutation	SNP	C	C	T	rs149840192		TCGA-DU-6410-01A-11D-1893-08	TCGA-DU-6410-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f978b356-f9ee-415d-b39c-a8ef1b221734	2b140fc8-fb90-4bf3-93e2-ce81a83a703a	g.chr7:55221822C>T	ENST00000275493.2	+	7	1043	c.866C>T	c.(865-867)gCc>gTc	p.A289V	EGFR_ENST00000455089.1_Missense_Mutation_p.A244V|EGFR_ENST00000342916.3_Missense_Mutation_p.A289V|EGFR_ENST00000454757.2_Missense_Mutation_p.A236V|EGFR_ENST00000442591.1_Missense_Mutation_p.A289V|EGFR_ENST00000344576.2_Missense_Mutation_p.A289V|EGFR_ENST00000420316.2_Missense_Mutation_p.A289V	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	289					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.A289V(20)|p.A289D(3)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	AGCTTTGGTGCCACCTGCGTG	0.592		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			6	106					0	0	0.217242	0	0	T	55221822	C	T	55221822	3	4	97	1	0	0	0	0	1	0	0	0	4993	739	26	2	892	2	EGFR	7	55221822	Missense_Mutation	SNP	C	TCGA-DU-6410-01A-11D-1893-08		55221822	103916841	21	19891											
CASD1	64921	broad.mit.edu	37	7	94163000	94163000	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6410-01A-11D-1893-08	TCGA-DU-6410-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f978b356-f9ee-415d-b39c-a8ef1b221734	2b140fc8-fb90-4bf3-93e2-ce81a83a703a	g.chr7:94163000A>G	ENST00000297273.4	+	7	801	c.514A>G	c.(514-516)Aag>Gag	p.K172E		NM_022900.4	NP_075051.4	Q96PB1	CASD1_HUMAN	CAS1 domain containing 1	172						integral to membrane				NS(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(3)|stomach(2)|upper_aerodigestive_tract(1)	31	all_cancers(62;6.71e-10)|all_epithelial(64;5e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			GTGGTCCATCAAGATTCACAA	0.294													26	54					0	0	0.681144	0	0	G	94163000	A	G	94163000	3	3	97	1	0	0	0	0	1	0	0	0	2682	131	5	3	540	3	CASD1	7	94163000	Missense_Mutation	SNP	A	TCGA-DU-6410-01A-11D-1893-08	38941178	94163000	64975663	22	19892											
CFTR	1080	broad.mit.edu	37	7	117304899	117304899	+	Missense_Mutation	SNP	C	C	T	rs115147093	by1000genomes	TCGA-DU-6410-01A-11D-1893-08	TCGA-DU-6410-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f978b356-f9ee-415d-b39c-a8ef1b221734	2b140fc8-fb90-4bf3-93e2-ce81a83a703a	g.chr7:117304899C>T	ENST00000003084.6	+	25	4253	c.4121C>T	c.(4120-4122)gCt>gTt	p.A1374V	CFTR_ENST00000454343.1_Missense_Mutation_p.A1313V	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	1374	ABC transporter 2.				respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	GAACCCAGTGCTCATTTGGAT	0.453									Cystic Fibrosis				63	215					0	0	0.870114	0	0	T	117304899	C	T	117304899	3	4	97	1	0	0	0	0	1	0	0	0	3316	797	28	2	4219	2	CFTR	7	117304899	Missense_Mutation	SNP	C	TCGA-DU-6410-01A-11D-1893-08	23141899	117304899	41833764	23	19893											
KLHL38	340359	broad.mit.edu	37	8	124664667	124664667	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6410-01A-11D-1893-08	TCGA-DU-6410-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f978b356-f9ee-415d-b39c-a8ef1b221734	2b140fc8-fb90-4bf3-93e2-ce81a83a703a	g.chr8:124664667G>A	ENST00000325995.7	-	1	523	c.500C>T	c.(499-501)gCc>gTc	p.A167V	CTD-2552K11.2_ENST00000524355.1_RNA	NM_001081675.2	NP_001075144.2	Q2WGJ6	KLH38_HUMAN	kelch-like family member 38	167	BACK.									breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1)	38						GGCCGATGCGGCCACCTCTGG	0.567													59	61					0	0	0.870114	0	0	A	124664667	G	A	124664667	3	1	97	1	0	0	0	0	1	0	0	0	8433	1203	42	2	1257	2	KLHL38	8	124664667	Missense_Mutation	SNP	G	TCGA-DU-6410-01A-11D-1893-08		124664667	21699355	24	19894											
FUBP3	8939	broad.mit.edu	37	9	133506050	133506050	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6410-01A-11D-1893-08	TCGA-DU-6410-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f978b356-f9ee-415d-b39c-a8ef1b221734	2b140fc8-fb90-4bf3-93e2-ce81a83a703a	g.chr9:133506050G>A	ENST00000319725.9	+	13	1228	c.1153G>A	c.(1153-1155)Ggg>Agg	p.G385R		NM_003934.1	NP_003925.1	Q96I24	FUBP3_HUMAN	far upstream element (FUSE) binding protein 3	385	KH 4.				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|RNA binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(10)|ovary(2)|urinary_tract(2)	21				OV - Ovarian serous cystadenocarcinoma(145;0.000279)		CCAGCAGTCAGGGGCGCACGT	0.612													37	60					0	0	0.827153	0	0	A	133506050	G	A	133506050	3	1	97	1	0	0	0	0	1	0	0	0	6128	1000	35	2	1203	2	FUBP3	9	133506050	Missense_Mutation	SNP	G	TCGA-DU-6410-01A-11D-1893-08		133506050	7707381	25	19895											
SURF4	6836	broad.mit.edu	37	9	136230559	136230559	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6410-01A-11D-1893-08	TCGA-DU-6410-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f978b356-f9ee-415d-b39c-a8ef1b221734	2b140fc8-fb90-4bf3-93e2-ce81a83a703a	g.chr9:136230559G>A	ENST00000371989.3	-	6	749	c.620C>T	c.(619-621)aCt>aTt	p.T207I	SURF4_ENST00000485435.2_Intron|SURF4_ENST00000467910.1_5'UTR|SURF4_ENST00000545297.1_3'UTR	NM_001280788.1|NM_001280790.1|NM_001280791.1|NM_033161.2	NP_001267717.1|NP_001267719.1|NP_001267720.1|NP_149351.1	O15260	SURF4_HUMAN	surfeit 4	207						endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane	protein binding			kidney(1)|large_intestine(2)|lung(5)	8				OV - Ovarian serous cystadenocarcinoma(145;5.32e-07)|Epithelial(140;4.56e-06)|all cancers(34;4.25e-05)		CACAACAAGAGTCAAAGCAGC	0.443													3	47					0	0	0.115264	0	0	A	136230559	G	A	136230559	3	1	97	1	0	0	0	0	1	0	0	0	15461	1029	36	2	193	2	SURF4	9	136230559	Missense_Mutation	SNP	G	TCGA-DU-6410-01A-11D-1893-08	2724509	136230559	4982872	26	19896											
ARMC3	219681	broad.mit.edu	37	10	23287189	23287189	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6410-01A-11D-1893-08	TCGA-DU-6410-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f978b356-f9ee-415d-b39c-a8ef1b221734	2b140fc8-fb90-4bf3-93e2-ce81a83a703a	g.chr10:23287189C>A	ENST00000298032.5	+	11	1372	c.1288C>A	c.(1288-1290)Ccc>Acc	p.P430T	ARMC3_ENST00000376528.4_Missense_Mutation_p.P167T|ARMC3_ENST00000409983.3_Missense_Mutation_p.P430T|ARMC3_ENST00000409049.3_Missense_Mutation_p.P430T	NM_173081.3	NP_775104.2	Q5W041	ARMC3_HUMAN	armadillo repeat containing 3	430							binding			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						CATGCAGGAGCCCCTGCGCCT	0.493													12	14					6.40141e-05	6.61841e-05	0.38729	1	0	A	23287189	C	A	23287189	3	1	97	1	0	0	0	0	1	0	0	0	951	739	26	5	1326	5	ARMC3	10	23287189	Missense_Mutation	SNP	C	TCGA-DU-6410-01A-11D-1893-08		23287189	112247558	27	19897											
APBB1IP	54518	broad.mit.edu	37	10	26802585	26802585	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6410-01A-11D-1893-08	TCGA-DU-6410-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f978b356-f9ee-415d-b39c-a8ef1b221734	2b140fc8-fb90-4bf3-93e2-ce81a83a703a	g.chr10:26802585C>T	ENST00000376236.4	+	8	1264	c.809C>T	c.(808-810)cCc>cTc	p.P270L		NM_019043.3	NP_061916.3	Q7Z5R6	AB1IP_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein	270					blood coagulation|signal transduction	cytoskeleton|cytosol|focal adhesion|lamellipodium				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(27)|skin(7)|upper_aerodigestive_tract(1)	45						TTTAAAAACCCCCAGGTAAGA	0.348													60	79					0	0	0.870114	0	0	T	26802585	C	T	26802585	3	4	97	1	0	0	0	0	1	0	0	0	756	623	22	2	831	2	APBB1IP	10	26802585	Missense_Mutation	SNP	C	TCGA-DU-6410-01A-11D-1893-08	3515396	26802585	108732162	28	19898											
HK1	3098	broad.mit.edu	37	10	71136763	71136763	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6410-01A-11D-1893-08	TCGA-DU-6410-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f978b356-f9ee-415d-b39c-a8ef1b221734	2b140fc8-fb90-4bf3-93e2-ce81a83a703a	g.chr10:71136763G>A	ENST00000448642.2	+	13	1443	c.1054G>A	c.(1054-1056)Ggc>Agc	p.G352S	HK1_ENST00000298649.3_Missense_Mutation_p.G316S|HK1_ENST00000360289.2_Missense_Mutation_p.G305S|HK1_ENST00000404387.2_Missense_Mutation_p.G321S|HK1_ENST00000359426.6_Missense_Mutation_p.G317S|HK1_ENST00000494253.1_3'UTR			P19367	HXK1_HUMAN	hexokinase 1	317	Regulatory.				glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane|nucleus	ATP binding|glucokinase activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(1)|urinary_tract(2)	35						GGCCAAGGAGGGCCTCTTATT	0.537													65	74					0	0	0.870114	0	0	A	71136763	G	A	71136763	3	1	97	1	0	0	0	0	1	0	0	0	7231	1232	43	2	1157	2	HK1	10	71136763	Missense_Mutation	SNP	G	TCGA-DU-6410-01A-11D-1893-08	44334178	71136763	64397984	29	19899											
ABCC2	1244	broad.mit.edu	37	10	101594197	101594197	+	Silent	SNP	C	C	T			TCGA-DU-6410-01A-11D-1893-08	TCGA-DU-6410-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f978b356-f9ee-415d-b39c-a8ef1b221734	2b140fc8-fb90-4bf3-93e2-ce81a83a703a	g.chr10:101594197C>T	ENST00000370449.4	+	24	3432	c.3319C>T	c.(3319-3321)Ctg>Ttg	p.L1107L		NM_000392.3	NP_000383	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 2	1107	ABC transmembrane type-1 2.					apical plasma membrane|integral to plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67		Colorectal(252;0.234)		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	TACATGCTTCCTGGGGATAAT	0.478													5	152					0	0	0.184627	0	0	T	101594197	C	T	101594197	2	4	97	1	0	0	0	0	0	0	0	1	53	680	24	2		2	ABCC2	10	101594197	Silent	SNP	C	TCGA-DU-6410-01A-11D-1893-08	30457434	101594197	33940550	30	19900											
BUB3	9184	broad.mit.edu	37	10	124921819	124921821	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-DU-6410-01A-11D-1893-08	TCGA-DU-6410-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f978b356-f9ee-415d-b39c-a8ef1b221734	2b140fc8-fb90-4bf3-93e2-ce81a83a703a	g.chr10:124921819_124921821delAGA	ENST00000368865.4	+	6	853_855	c.644_646delAGA	c.(643-648)cagaag>cag	p.K218del	BUB3_ENST00000538238.1_In_Frame_Del_p.K138del|BUB3_ENST00000368859.2_Intron|BUB3_ENST00000368858.5_In_Frame_Del_p.K218del|BUB3_ENST00000481952.1_3'UTR	NM_004725.3	NP_004716.1	O43684	BUB3_HUMAN	BUB3 mitotic checkpoint protein	218					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|attachment of spindle microtubules to kinetochore|cell division|meiosis|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle	condensed chromosome kinetochore|cytosol|nucleus	protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	9		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)				CCTGAGGTACAGAAGAAGAAGTA	0.389													9	334	---	---	---	---						-	124921821	AGA	-	124921819	7	5	97	1	0	1	0	1	0	0	0	0	1575	188	7	0	662	0	BUB3	10	124921819	In_Frame_Del	DEL	AGA	TCGA-DU-6410-01A-11D-1893-08	23327622	124921819	10612928	31	19901											
ANO5	203859	broad.mit.edu	37	11	22271916	22271916	+	Splice_Site	SNP	A	A	T			TCGA-DU-6410-01A-11D-1893-08	TCGA-DU-6410-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f978b356-f9ee-415d-b39c-a8ef1b221734	2b140fc8-fb90-4bf3-93e2-ce81a83a703a	g.chr11:22271916A>T	ENST00000324559.8	+	10	1329	c.1012A>T	c.(1012-1014)Agc>Tgc	p.S338C		NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	338						chloride channel complex|endoplasmic reticulum membrane	chloride channel activity			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TAACACAAGCAGGTAAGTGCA	0.363													18	30					0	0	0.557998	0	0	T	22271916	A	T	22271916	5	4	97	1	0	0	0	0	0	0	1	0	694	202	7	5	1050	5	ANO5	11	22271916	Splice_Site	SNP	A	TCGA-DU-6410-01A-11D-1893-08		22271916	112734600	32	19902											
MUC15	143662	broad.mit.edu	37	11	26584807	26584807	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6410-01A-11D-1893-08	TCGA-DU-6410-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f978b356-f9ee-415d-b39c-a8ef1b221734	2b140fc8-fb90-4bf3-93e2-ce81a83a703a	g.chr11:26584807T>C	ENST00000436318.2	-	3	914	c.781A>G	c.(781-783)Aga>Gga	p.R261G	MUC15_ENST00000527569.1_Intron|MUC15_ENST00000455601.2_Missense_Mutation_p.R234G|ANO3_ENST00000525139.1_Intron|ANO3_ENST00000256737.3_Intron|ANO3_ENST00000531568.1_Intron|ANO3_ENST00000537978.1_Intron|MUC15_ENST00000281268.8_Intron|MUC15_ENST00000529533.1_Missense_Mutation_p.R261G			Q8N387	MUC15_HUMAN	mucin 15, cell surface associated	234						extracellular region|integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25						CCTGTATTTCTATTTTCTACA	0.328													6	53					0	0	0.217242	0	0	C	26584807	T	C	26584807	3	2	97	1	0	0	0	0	1	0	0	0	10020	1530	53	3	312	3	MUC15	11	26584807	Missense_Mutation	SNP	T	TCGA-DU-6410-01A-11D-1893-08	4312891	26584807	108421709	33	19903											
MARK2	2011	broad.mit.edu	37	11	63667348	63667348	+	Silent	SNP	A	A	G			TCGA-DU-6410-01A-11D-1893-08	TCGA-DU-6410-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f978b356-f9ee-415d-b39c-a8ef1b221734	2b140fc8-fb90-4bf3-93e2-ce81a83a703a	g.chr11:63667348A>G	ENST00000402010.2	+	8	1113	c.534A>G	c.(532-534)gcA>gcG	p.A178A	MARK2_ENST00000315032.8_Silent_p.A178A|MARK2_ENST00000513765.2_Silent_p.A145A|MARK2_ENST00000502399.3_Silent_p.A178A|MARK2_ENST00000377810.3_Silent_p.A145A|MARK2_ENST00000377809.4_Silent_p.A178A|MARK2_ENST00000509502.2_Silent_p.A145A|MARK2_ENST00000508192.1_Silent_p.A178A|MARK2_ENST00000408948.3_Silent_p.A145A|MARK2_ENST00000425897.2_Silent_p.A145A|MARK2_ENST00000361128.5_Silent_p.A178A|MARK2_ENST00000413835.2_Silent_p.A178A|MARK2_ENST00000350490.7_Silent_p.A178A	NM_001039469.2	NP_001034558.2	Q7KZI7	MARK2_HUMAN	MAP/microtubule affinity-regulating kinase 2	178	Protein kinase.				cell differentiation|establishment or maintenance of epithelial cell apical/basal polarity|intracellular protein kinase cascade|multicellular organismal development|response to oxidative stress	plasma membrane	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						CCTCCCAGGCAGAAAACCTGC	0.498													153	165					0	0	0.870114	0	0	G	63667348	A	G	63667348	2	3	97	1	0	0	0	0	0	0	0	1	9363	175	7	3		3	MARK2	11	63667348	Silent	SNP	A	TCGA-DU-6410-01A-11D-1893-08	37082541	63667348	71339168	34	19904											
SCYL1	57410	broad.mit.edu	37	11	65303494	65303494	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6410-01A-11D-1893-08	TCGA-DU-6410-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f978b356-f9ee-415d-b39c-a8ef1b221734	2b140fc8-fb90-4bf3-93e2-ce81a83a703a	g.chr11:65303494C>T	ENST00000524944.1	+	11	1490	c.1457C>T	c.(1456-1458)gCg>gTg	p.A486V	SCYL1_ENST00000525364.1_Missense_Mutation_p.A486V|SCYL1_ENST00000527009.1_Missense_Mutation_p.A343V|SCYL1_ENST00000533862.1_Missense_Mutation_p.A486V|SCYL1_ENST00000279270.6_Missense_Mutation_p.A486V|SCYL1_ENST00000270176.5_Missense_Mutation_p.A486V|SCYL1_ENST00000420247.2_Missense_Mutation_p.A486V			Q96KG9	NTKL_HUMAN	SCY1-like 1 (S. cerevisiae)	486					regulation of transcription, DNA-dependent|retrograde vesicle-mediated transport, Golgi to ER|transcription, DNA-dependent	cis-Golgi network|COPI vesicle coat|ER-Golgi intermediate compartment|microtubule organizing center|nucleus	ATP binding|DNA binding|protein tyrosine kinase activity			ovary(1)|skin(1)	2						TCCCGGGTTGCGGGTGTCCTG	0.597													28	51					0	0	0.717897	0	0	T	65303494	C	T	65303494	3	4	97	1	0	0	0	0	1	0	0	0	14001	768	27	1	1499	1	SCYL1	11	65303494	Missense_Mutation	SNP	C	TCGA-DU-6410-01A-11D-1893-08	1636146	65303494	69703022	35	19905											
PTPRB	5787	broad.mit.edu	37	12	70980859	70980859	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6410-01A-11D-1893-08	TCGA-DU-6410-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f978b356-f9ee-415d-b39c-a8ef1b221734	2b140fc8-fb90-4bf3-93e2-ce81a83a703a	g.chr12:70980859G>A	ENST00000334414.6	-	9	2283	c.2239C>T	c.(2239-2241)Cga>Tga	p.R747*	PTPRB_ENST00000538174.2_5'UTR|PTPRB_ENST00000538708.1_Nonsense_Mutation_p.R529*|PTPRB_ENST00000451516.2_Nonsense_Mutation_p.R439*|PTPRB_ENST00000551525.1_Nonsense_Mutation_p.R746*|PTPRB_ENST00000550358.1_Nonsense_Mutation_p.R747*|PTPRB_ENST00000261266.5_Nonsense_Mutation_p.R529*|PTPRB_ENST00000550857.1_Nonsense_Mutation_p.R439*	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	529	Fibronectin type-III 9.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			ATGTATTTTCGTCCAGGCACC	0.378													55	53					0	0	0.870114	0	0	A	70980859	G	A	70980859	4	1	97	1	0	0	0	0	0	1	0	0	12848	1153	40	1	4512	1	PTPRB	12	70980859	Nonsense_Mutation	SNP	G	TCGA-DU-6410-01A-11D-1893-08		70980859	62871036	36	19906											
OR4K17	390436	broad.mit.edu	37	14	20586367	20586367	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6410-01A-11D-1893-08	TCGA-DU-6410-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f978b356-f9ee-415d-b39c-a8ef1b221734	2b140fc8-fb90-4bf3-93e2-ce81a83a703a	g.chr14:20586367C>T	ENST00000315543.4	+	1	802	c.802C>T	c.(802-804)Cgt>Tgt	p.R268C		NM_001004715.1	NP_001004715.1	Q8NGC6	OR4KH_HUMAN	olfactory receptor, family 4, subfamily K, member 17	240					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|skin(3)	21	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.77e-06)	GBM - Glioblastoma multiforme(265;0.0144)		ATCTAAAGCCCGTTCCACTTT	0.438													48	53					0	0	0.870114	0	0	T	20586367	C	T	20586367	3	4	97	1	0	0	0	0	1	0	0	0	11119	652	23	1	804	1	OR4K17	14	20586367	Missense_Mutation	SNP	C	TCGA-DU-6410-01A-11D-1893-08		20586367	86763173	37	19907											
USP7	7874	broad.mit.edu	37	16	9000424	9000424	+	Silent	SNP	C	C	T			TCGA-DU-6410-01A-11D-1893-08	TCGA-DU-6410-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f978b356-f9ee-415d-b39c-a8ef1b221734	2b140fc8-fb90-4bf3-93e2-ce81a83a703a	g.chr16:9000424C>T	ENST00000344836.4	-	13	1485	c.1287G>A	c.(1285-1287)gaG>gaA	p.E429E	USP7_ENST00000535863.1_Silent_p.E330E|USP7_ENST00000381886.4_Silent_p.E413E	NM_003470.2	NP_003461.2	Q93009	UBP7_HUMAN	ubiquitin specific peptidase 7 (herpes virus-associated)	429					interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process	cytoplasm|PML body	cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	48						GTGGTAACTGCTCTGGGAATT	0.318													37	36					0	0	0.804634	0	0	T	9000424	C	T	9000424	2	4	97	1	0	0	0	0	0	0	0	1	17148	796	28	2		2	USP7	16	9000424	Silent	SNP	C	TCGA-DU-6410-01A-11D-1893-08		9000424	81354329	38	19908											
ZFHX3	463	broad.mit.edu	37	16	72827287	72827287	+	Silent	SNP	T	T	C			TCGA-DU-6410-01A-11D-1893-08	TCGA-DU-6410-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f978b356-f9ee-415d-b39c-a8ef1b221734	2b140fc8-fb90-4bf3-93e2-ce81a83a703a	g.chr16:72827287T>C	ENST00000268489.5	-	9	9966	c.9294A>G	c.(9292-9294)caA>caG	p.Q3098Q	ZFHX3_ENST00000397992.5_Silent_p.Q2184Q	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	3098					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				CAAACATCCCTTGCTGCTGAG	0.547													6	225					0	0	0.248553	0	0	C	72827287	T	C	72827287	2	2	97	1	0	0	0	0	0	0	0	1	17692	1606	56	3		3	ZFHX3	16	72827287	Silent	SNP	T	TCGA-DU-6410-01A-11D-1893-08	63826863	72827287	17527466	39	19909											
MYH4	4622	broad.mit.edu	37	17	10350515	10350515	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6410-01A-11D-1893-08	TCGA-DU-6410-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f978b356-f9ee-415d-b39c-a8ef1b221734	2b140fc8-fb90-4bf3-93e2-ce81a83a703a	g.chr17:10350515C>A	ENST00000255381.2	-	35	5094	c.4984G>T	c.(4984-4986)Gat>Tat	p.D1662Y	RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1662					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						ATGGCATCATCCAAATGTAGC	0.453													25	40					3.01185e-09	3.22321e-09	0.667858	1	0	A	10350515	C	A	10350515	3	1	97	1	0	0	0	0	1	0	0	0	10085	855	30	5	859	5	MYH4	17	10350515	Missense_Mutation	SNP	C	TCGA-DU-6410-01A-11D-1893-08		10350515	70844695	40	19910											
KRT25	147183	broad.mit.edu	37	17	38906790	38906790	+	Silent	SNP	C	C	T			TCGA-DU-6410-01A-11D-1893-08	TCGA-DU-6410-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f978b356-f9ee-415d-b39c-a8ef1b221734	2b140fc8-fb90-4bf3-93e2-ce81a83a703a	g.chr17:38906790C>T	ENST00000312150.4	-	6	1077	c.1017G>A	c.(1015-1017)gcG>gcA	p.A339A		NM_181534.3	NP_853512.1	Q7Z3Z0	K1C25_HUMAN	keratin 25	339	Coil 2.|Rod.					cytoplasm|intermediate filament	structural molecule activity	p.A339A(2)		endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4)	16		Breast(137;0.00526)				CCTGGATCTGCGCCAGCTGCG	0.562													113	148					0	0	0.870114	0	0	T	38906790	C	T	38906790	2	4	97	1	0	0	0	0	0	0	0	1	8505	755	27	1		1	KRT25	17	38906790	Silent	SNP	C	TCGA-DU-6410-01A-11D-1893-08	28556275	38906790	42288420	41	19911											
UTP18	51096	broad.mit.edu	37	17	49371388	49371388	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6410-01A-11D-1893-08	TCGA-DU-6410-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f978b356-f9ee-415d-b39c-a8ef1b221734	2b140fc8-fb90-4bf3-93e2-ce81a83a703a	g.chr17:49371388G>A	ENST00000225298.7	+	12	1685	c.1628G>A	c.(1627-1629)gGc>gAc	p.G543D		NM_016001.2	NP_057085.2	Q9Y5J1	UTP18_HUMAN	UTP18 small subunit (SSU) processome component homolog (yeast)	543				GKALMYRLHHYSDF -> ARP (in Ref. 1; AAD34043).	rRNA processing	nucleolus				breast(2)|endometrium(3)|kidney(2)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16			BRCA - Breast invasive adenocarcinoma(22;2.09e-07)			AATGAAAAGGGCAAGGCCCTG	0.333													24	30					0	0	0.693898	0	0	A	49371388	G	A	49371388	3	1	97	1	0	0	0	0	1	0	0	0	17158	1203	42	2	1674	2	UTP18	17	49371388	Missense_Mutation	SNP	G	TCGA-DU-6410-01A-11D-1893-08	10464598	49371388	31823822	42	19912											
RNF213	57674	broad.mit.edu	37	17	78320934	78320934	+	Silent	SNP	G	G	A	rs141391616		TCGA-DU-6410-01A-11D-1893-08	TCGA-DU-6410-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f978b356-f9ee-415d-b39c-a8ef1b221734	2b140fc8-fb90-4bf3-93e2-ce81a83a703a	g.chr17:78320934G>A	ENST00000582970.1	+	29	8942	c.8799G>A	c.(8797-8799)gcG>gcA	p.A2933A	RNF213_ENST00000336301.6_Silent_p.A1006A|RNF213_ENST00000508628.2_Silent_p.A2982A	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	0								p.A1006A(1)|p.A2982A(1)		NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			GGTACTTTGCGTCCTTTGCCA	0.547													28	23					0	0	0.717897	0	0	A	78320934	G	A	78320934	2	1	97	1	0	0	0	0	0	0	0	1	13529	1132	40	1		1	RNF213	17	78320934	Silent	SNP	G	TCGA-DU-6410-01A-11D-1893-08	28949546	78320934	2874276	43	19913											
ZNF71	58491	broad.mit.edu	37	19	57133636	57133636	+	Silent	SNP	G	G	A			TCGA-DU-6410-01A-11D-1893-08	TCGA-DU-6410-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f978b356-f9ee-415d-b39c-a8ef1b221734	2b140fc8-fb90-4bf3-93e2-ce81a83a703a	g.chr19:57133636G>A	ENST00000328070.6	+	3	1215	c.981G>A	c.(979-981)gtG>gtA	p.V327V		NM_021216.4	NP_067039.1	Q9NQZ8	ZNF71_HUMAN	zinc finger protein 71	327						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)		AGCCCTACGTGTGCGGCGAGT	0.642													27	41					0	0	0.740014	0	0	A	57133636	G	A	57133636	2	1	97	1	0	0	0	0	0	0	0	1	18170	1364	48	2		2	ZNF71	19	57133636	Silent	SNP	G	TCGA-DU-6410-01A-11D-1893-08		57133636	1995347	44	19914											
ENTPD6	955	broad.mit.edu	37	20	25201921	25201921	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-6410-01A-11D-1893-08	TCGA-DU-6410-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f978b356-f9ee-415d-b39c-a8ef1b221734	2b140fc8-fb90-4bf3-93e2-ce81a83a703a	g.chr20:25201921G>C	ENST00000360031.2	+	11	1176	c.994G>C	c.(994-996)Gag>Cag	p.E332Q	ENTPD6_ENST00000376652.4_Missense_Mutation_p.E333Q|ENTPD6_ENST00000433259.2_Intron|ENTPD6_ENST00000354989.5_Missense_Mutation_p.E316Q	NM_001247.2	NP_001238.2	O75354	ENTP6_HUMAN	ectonucleoside triphosphate diphosphohydrolase 6 (putative)	333						Golgi membrane|integral to membrane	nucleoside-diphosphatase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|prostate(1)|skin(1)	27						TTTCAAAGGAGAGTGGGAACA	0.517													5	105					0	0	0.248553	0	0	C	25201921	G	C	25201921	3	2	97	1	0	0	0	0	1	0	0	0	5171	943	33	4	1042	4	ENTPD6	20	25201921	Missense_Mutation	SNP	G	TCGA-DU-6410-01A-11D-1893-08		25201921	37823599	45	19915											
DIP2A	23181	broad.mit.edu	37	21	47952057	47952057	+	Silent	SNP	G	G	T			TCGA-DU-6410-01A-11D-1893-08	TCGA-DU-6410-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f978b356-f9ee-415d-b39c-a8ef1b221734	2b140fc8-fb90-4bf3-93e2-ce81a83a703a	g.chr21:47952057G>T	ENST00000318711.7	+	10	1398	c.1215G>T	c.(1213-1215)ccG>ccT	p.P405P	DIP2A_ENST00000457905.3_Silent_p.P404P|DIP2A_ENST00000435722.3_Silent_p.P404P|DIP2A_ENST00000417564.2_Silent_p.P404P|DIP2A_ENST00000466639.1_Silent_p.P361P|DIP2A_ENST00000427143.2_Silent_p.P340P|DIP2A_ENST00000400274.1_Silent_p.P400P	NM_001146116.1|NM_015151.3	NP_001139588.1|NP_055966.2	Q14689	DIP2A_HUMAN	DIP2 disco-interacting protein 2 homolog A (Drosophila)	404					multicellular organismal development	nucleus	catalytic activity|transcription factor binding			cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		TCGTGTTTCCGAATAGTGACC	0.378													18	28					2.94398e-08	3.09626e-08	0.557998	1	0	T	47952057	G	T	47952057	2	4	97	1	0	0	0	0	0	0	0	1	4555	1045	37	5		5	DIP2A	21	47952057	Silent	SNP	G	TCGA-DU-6410-01A-11D-1893-08		47952057	177838	46	19916											
DDX17	10521	broad.mit.edu	37	22	38890947	38890947	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6410-01A-11D-1893-08	TCGA-DU-6410-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f978b356-f9ee-415d-b39c-a8ef1b221734	2b140fc8-fb90-4bf3-93e2-ce81a83a703a	g.chr22:38890947T>C	ENST00000396821.3	-	7	1084	c.985A>G	c.(985-987)Aga>Gga	p.R329G	DDX17_ENST00000432525.1_5'UTR|DDX17_ENST00000381633.3_Missense_Mutation_p.R250G	NM_001098504.1|NM_006386.4	NP_001091974|NP_006377.2	Q92841	DDX17_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 17	250	Helicase C-terminal.				RNA processing	nucleus	ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity|RNA-dependent ATPase activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	25	Melanoma(58;0.0286)					TCAAGCATTCTGTCAGCTTCG	0.428													50	80					0	0	0.870114	0	0	C	38890947	T	C	38890947	3	2	97	1	0	0	0	0	1	0	0	0	4367	1588	55	3	1238	3	DDX17	22	38890947	Missense_Mutation	SNP	T	TCGA-DU-6410-01A-11D-1893-08		38890947	12413619	47	19917											
USP9X	8239	broad.mit.edu	37	X	41057788	41057788	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6410-01A-11D-1893-08	TCGA-DU-6410-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f978b356-f9ee-415d-b39c-a8ef1b221734	2b140fc8-fb90-4bf3-93e2-ce81a83a703a	g.chrX:41057788T>C	ENST00000324545.8	+	30	5021	c.4388T>C	c.(4387-4389)aTt>aCt	p.I1463T	USP9X_ENST00000378308.2_Missense_Mutation_p.I1463T	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked						BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						TAGGAATTAATTGATGATTTC	0.318													21	2					0	0	0.608945	0	0	C	41057788	T	C	41057788	3	2	97	1	0	0	0	0	1	0	0	0	17150	1493	52	3	4502	3	USP9X	23	41057788	Missense_Mutation	SNP	T	TCGA-DU-6410-01A-11D-1893-08		41057788	114212772	48	19918											
SLC2A5	6518	broad.mit.edu	37	1	9100209	9100209	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-6542-01A-11D-1893-08	TCGA-DU-6542-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96dd5230-96ed-40d9-a861-339fdb8a9842	d6e9d687-e7e6-475b-8290-ddea4d015a92	g.chr1:9100209G>C	ENST00000377424.4	-	6	790	c.611C>G	c.(610-612)gCg>gGg	p.A204G	SLC2A5_ENST00000377414.3_3'UTR|SLC2A5_ENST00000536305.1_Missense_Mutation_p.A145G|SLC2A5_ENST00000535586.1_Missense_Mutation_p.A89G	NM_003039.2	NP_003030.1	P22732	GTR5_HUMAN	solute carrier family 2 (facilitated glucose/fructose transporter), member 5	204					carbohydrate metabolic process	integral to membrane|plasma membrane	fructose transmembrane transporter activity|glucose transmembrane transporter activity			endometrium(6)|kidney(15)|large_intestine(6)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|urinary_tract(1)	36	Ovarian(185;0.112)|all_lung(157;0.185)	all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.78e-07)|COAD - Colon adenocarcinoma(227;8.83e-05)|Kidney(185;0.000286)|KIRC - Kidney renal clear cell carcinoma(229;0.00103)|STAD - Stomach adenocarcinoma(132;0.0019)|BRCA - Breast invasive adenocarcinoma(304;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		GAGCTGCAGCGCCGCGGGGAC	0.677													2	6					0	0	0.004672	0	0	C	9100209	G	C	9100209	3	2	98	1	0	0	0	0	1	0	0	0	14603	1087	38	5	922	5	SLC2A5	1	9100209	Missense_Mutation	SNP	G	TCGA-DU-6542-01A-11D-1893-08		9100209	240150412	1	19919											
CLCN6	1185	broad.mit.edu	37	1	11883807	11883810	+	Frame_Shift_Del	DEL	TGAA	TGAA	-			TCGA-DU-6542-01A-11D-1893-08	TCGA-DU-6542-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96dd5230-96ed-40d9-a861-339fdb8a9842	d6e9d687-e7e6-475b-8290-ddea4d015a92	g.chr1:11883807_11883810delTGAA	ENST00000346436.6	+	7	549_552	c.497_500delTGAA	c.(496-501)ctgaatfs	p.LN166fs	CLCN6_ENST00000376496.3_Frame_Shift_Del_p.LN166fs|CLCN6_ENST00000312413.6_Frame_Shift_Del_p.LN166fs|CLCN6_ENST00000376487.3_Frame_Shift_Del_p.LN144fs|CLCN6_ENST00000376492.3_3'UTR	NM_001286.3	NP_001277	P51797	CLCN6_HUMAN	chloride channel, voltage-sensitive 6	166					cell volume homeostasis|signal transduction	endosome membrane|integral to membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(4)	36	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		AAATGCTATCTGAATGGCGTAAAG	0.554													29	79	---	---	---	---						-	11883810	TGAA	-	11883807	7	5	98	1	0	1	0	1	0	0	0	0	3490	1580	55	0	523	0	CLCN6	1	11883807	Frame_Shift_Del	DEL	TGAA	TCGA-DU-6542-01A-11D-1893-08	2783598	11883807	237366814	2	19920											
PLA2G2D	26279	broad.mit.edu	37	1	20442002	20442002	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6542-01A-11D-1893-08	TCGA-DU-6542-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96dd5230-96ed-40d9-a861-339fdb8a9842	d6e9d687-e7e6-475b-8290-ddea4d015a92	g.chr1:20442002C>T	ENST00000375105.3	-	3	348	c.290G>A	c.(289-291)tGc>tAc	p.C97Y		NM_012400.2	NP_036532.1	Q9UNK4	PA2GD_HUMAN	phospholipase A2, group IID	97					inflammatory response|lipid catabolic process|phospholipid metabolic process	extracellular region	calcium ion binding|phospholipase A2 activity			endometrium(1)|lung(2)	3		Colorectal(325;0.000147)|Renal(390;0.000469)|Lung NSC(340;0.00412)|all_lung(284;0.00419)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.15e-05)|BRCA - Breast invasive adenocarcinoma(304;8.01e-05)|Kidney(64;0.000175)|GBM - Glioblastoma multiforme(114;0.000798)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GTACTCACAGCAGTGGATGTT	0.547										Multiple Myeloma(11;0.12)			28	44					0	0	0.001786	0	0	T	20442002	C	T	20442002	3	4	98	1	0	0	0	0	1	0	0	0	12045	710	25	2	155	2	PLA2G2D	1	20442002	Missense_Mutation	SNP	C	TCGA-DU-6542-01A-11D-1893-08	8558195	20442002	228808619	3	19921											
INADL	10207	broad.mit.edu	37	1	62586854	62586854	+	Splice_Site	SNP	G	G	A			TCGA-DU-6542-01A-11D-1893-08	TCGA-DU-6542-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96dd5230-96ed-40d9-a861-339fdb8a9842	d6e9d687-e7e6-475b-8290-ddea4d015a92	g.chr1:62586854G>A	ENST00000371158.2	+	38	5006	c.4892G>A	c.(4891-4893)gGt>gAt	p.G1631D	INADL_ENST00000472512.1_3'UTR	NM_176877.2	NP_795352	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	1631					intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						TTCTTTCAGGGTAGTCAGCAG	0.493													44	76					0	0	0.00361	0	0	A	62586854	G	A	62586854	5	1	98	1	0	0	0	0	0	0	1	0	7775	1275	44	2	5038	2	INADL	1	62586854	Splice_Site	SNP	G	TCGA-DU-6542-01A-11D-1893-08	42144852	62586854	186663767	4	19922											
SELP	6403	broad.mit.edu	37	1	169581487	169581487	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6542-01A-11D-1893-08	TCGA-DU-6542-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96dd5230-96ed-40d9-a861-339fdb8a9842	d6e9d687-e7e6-475b-8290-ddea4d015a92	g.chr1:169581487C>A	ENST00000263686.6	-	6	966	c.929G>T	c.(928-930)gGg>gTg	p.G310V	SELP_ENST00000367792.2_Missense_Mutation_p.G310V|SELP_ENST00000367791.2_Missense_Mutation_p.G310V|SELP_ENST00000458599.2_Missense_Mutation_p.G310V|SELP_ENST00000367788.2_Intron|SELP_ENST00000367794.2_Missense_Mutation_p.G310V|SELP_ENST00000367786.2_Missense_Mutation_p.G310V|SELP_ENST00000367793.2_Intron	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)	310	Sushi 2.				platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)	TGTCCATACCCCCGAGGCTGT	0.488													5	102					5.9392e-07	8.26323e-07	0.001168	1	0	A	169581487	C	A	169581487	3	1	98	1	0	0	0	0	1	0	0	0	14073	623	22	5	1607	5	SELP	1	169581487	Missense_Mutation	SNP	C	TCGA-DU-6542-01A-11D-1893-08	106994633	169581487	79669134	5	19923											
TNN	63923	broad.mit.edu	37	1	175046809	175046809	+	Silent	SNP	C	C	A			TCGA-DU-6542-01A-11D-1893-08	TCGA-DU-6542-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96dd5230-96ed-40d9-a861-339fdb8a9842	d6e9d687-e7e6-475b-8290-ddea4d015a92	g.chr1:175046809C>A	ENST00000239462.4	+	2	368	c.255C>A	c.(253-255)atC>atA	p.I85I		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	85					cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		AGAACATCATCTTCAGGCACA	0.607													26	34					6.32553e-13	9.41474e-13	0.004656	1	0	A	175046809	C	A	175046809	2	1	98	1	0	0	0	0	0	0	0	1	16383	903	32	4		4	TNN	1	175046809	Silent	SNP	C	TCGA-DU-6542-01A-11D-1893-08	5465322	175046809	74203812	6	19924											
HMCN1	83872	broad.mit.edu	37	1	186045567	186045567	+	Silent	SNP	A	A	T			TCGA-DU-6542-01A-11D-1893-08	TCGA-DU-6542-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96dd5230-96ed-40d9-a861-339fdb8a9842	d6e9d687-e7e6-475b-8290-ddea4d015a92	g.chr1:186045567A>T	ENST00000271588.4	+	54	8527	c.8298A>T	c.(8296-8298)ccA>ccT	p.P2766P	HMCN1_ENST00000367492.2_Silent_p.P2766P	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	2766	Ig-like C2-type 26.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TAGTTCCTCCAAGTTTTCAGA	0.378													12	21					0	0	0.001368	0	0	T	186045567	A	T	186045567	2	4	98	1	0	0	0	0	0	0	0	1	7261	117	5	5		5	HMCN1	1	186045567	Silent	SNP	A	TCGA-DU-6542-01A-11D-1893-08	10998758	186045567	63205054	7	19925											
TTN	7273	broad.mit.edu	37	2	179422678	179422678	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-6542-01A-11D-1893-08	TCGA-DU-6542-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96dd5230-96ed-40d9-a861-339fdb8a9842	d6e9d687-e7e6-475b-8290-ddea4d015a92	g.chr2:179422678G>C	ENST00000589042.1	-	328	87627	c.87403C>G	c.(87403-87405)Cta>Gta	p.L29135V	TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.L20262V|TTN_ENST00000591111.1_Missense_Mutation_p.L27494V|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.L26567V|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.L20070V|TTN_ENST00000359218.5_Missense_Mutation_p.L20195V|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586707.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	27494	Fibronectin type-III 112.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGCCTGTCTAGCACAACAATG	0.448													18	229					0	0	0.008871	0	0	C	179422678	G	C	179422678	3	2	98	1	0	0	0	0	1	0	0	0	16797	962	34	4	20716	4	TTN	2	179422678	Missense_Mutation	SNP	G	TCGA-DU-6542-01A-11D-1893-08		179422678	63776695	8	19926											
TTN	7273	broad.mit.edu	37	2	179480443	179480443	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-6542-01A-11D-1893-08	TCGA-DU-6542-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96dd5230-96ed-40d9-a861-339fdb8a9842	d6e9d687-e7e6-475b-8290-ddea4d015a92	g.chr2:179480443C>G	ENST00000589042.1	-	258	48609	c.48385G>C	c.(48385-48387)Gtt>Ctt	p.V16129L	TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V7256L|TTN_ENST00000591111.1_Missense_Mutation_p.V14488L|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V13561L|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.V7064L|TTN_ENST00000359218.5_Missense_Mutation_p.V7189L|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589907.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	14488	Fibronectin type-III 17.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CGAGCACAAACTTTAAATAAG	0.373													4	149					0	0	0.000248	0	0	G	179480443	C	G	179480443	3	3	98	1	0	0	0	0	1	0	0	0	16797	565	20	4	59728	4	TTN	2	179480443	Missense_Mutation	SNP	C	TCGA-DU-6542-01A-11D-1893-08	57765	179480443	63718930	9	19927											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-DU-6542-01A-11D-1893-08	TCGA-DU-6542-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96dd5230-96ed-40d9-a861-339fdb8a9842	d6e9d687-e7e6-475b-8290-ddea4d015a92	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	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								18	43					0	0	0.008871	0	0	T	209113112	C	T	209113112	3	4	98	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-DU-6542-01A-11D-1893-08	29632669	209113112	34086261	10	19928											
UGT1A6	54578	broad.mit.edu	37	2	234602346	234602346	+	Silent	SNP	C	C	T			TCGA-DU-6542-01A-11D-1893-08	TCGA-DU-6542-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96dd5230-96ed-40d9-a861-339fdb8a9842	d6e9d687-e7e6-475b-8290-ddea4d015a92	g.chr2:234602346C>T	ENST00000305139.6	+	1	835	c.696C>T	c.(694-696)ctC>ctT	p.L232L	UGT1A6_ENST00000480628.1_Intron|UGT1A6_ENST00000406651.1_5'UTR|UGT1A9_ENST00000354728.4_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A1_ENST00000609637.1_Intron|UGT1A1_ENST00000373450.4_Intron|AC114812.8_ENST00000439336.1_RNA|UGT1A10_ENST00000344644.5_Intron|UGT1A10_ENST00000373445.1_Intron	NM_001072.3	NP_001063.2														central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;5.86e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000384)|Lung(119;0.00306)|LUSC - Lung squamous cell carcinoma(224;0.00702)		ATGAAGAACTCGCATCAGCTG	0.393													13	176					0	0	0.001368	0	0	T	234602346	C	T	234602346	2	4	98	1	0	0	0	0	0	0	0	1	17009	871	31	1		1	UGT1A6	2	234602346	Silent	SNP	C	TCGA-DU-6542-01A-11D-1893-08	25489234	234602346	8597027	11	19929											
SNED1	25992	broad.mit.edu	37	2	242003028	242003028	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6542-01A-11D-1893-08	TCGA-DU-6542-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96dd5230-96ed-40d9-a861-339fdb8a9842	d6e9d687-e7e6-475b-8290-ddea4d015a92	g.chr2:242003028C>T	ENST00000310397.8	+	18	2396	c.2396C>T	c.(2395-2397)cCg>cTg	p.P799L	SNED1_ENST00000342631.6_Missense_Mutation_p.P799L|SNED1_ENST00000401884.1_Missense_Mutation_p.P799L|SNED1_ENST00000405547.3_Missense_Mutation_p.P799L|AC005237.4_ENST00000458377.1_RNA	NM_001080437.1	NP_001073906.1	Q8TER0	SNED1_HUMAN	sushi, nidogen and EGF-like domains 1	799	EGF-like 12; calcium-binding (Potential).				cell-matrix adhesion	extracellular region	calcium ion binding			NS(1)|breast(1)|central_nervous_system(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	24		all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109)		CGAGCTCACCCGTGCAGAAAT	0.622													4	12					0	0	0.001168	0	0	T	242003028	C	T	242003028	3	4	98	1	0	0	0	0	1	0	0	0	14899	652	23	1	2466	1	SNED1	2	242003028	Missense_Mutation	SNP	C	TCGA-DU-6542-01A-11D-1893-08	7400682	242003028	1196345	12	19930											
CELSR3	1951	broad.mit.edu	37	3	48694173	48694173	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6542-01A-11D-1893-08	TCGA-DU-6542-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96dd5230-96ed-40d9-a861-339fdb8a9842	d6e9d687-e7e6-475b-8290-ddea4d015a92	g.chr3:48694173G>A	ENST00000544264.1	-	2	4637	c.4357C>T	c.(4357-4359)Cgc>Tgc	p.R1453C	CELSR3_ENST00000164024.4_Missense_Mutation_p.R1453C			Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	1453	EGF-like 2; calcium-binding.				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CCTCCCTCGCGCCGCGCGCAG	0.726													5	7					0	0	0.001984	0	0	A	48694173	G	A	48694173	3	1	98	1	0	0	0	0	1	0	0	0	3245	1087	38	1	5717	1	CELSR3	3	48694173	Missense_Mutation	SNP	G	TCGA-DU-6542-01A-11D-1893-08		48694173	149328257	13	19931											
WDR52	55779	broad.mit.edu	37	3	113098287	113098287	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6542-01A-11D-1893-08	TCGA-DU-6542-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96dd5230-96ed-40d9-a861-339fdb8a9842	d6e9d687-e7e6-475b-8290-ddea4d015a92	g.chr3:113098287A>G	ENST00000393845.2	-	17	2230	c.2164T>C	c.(2164-2166)Ttt>Ctt	p.F722L	WDR52_ENST00000295868.2_Missense_Mutation_p.F722L	NM_001164496.1	NP_001157968.1	Q96MT7	WDR52_HUMAN	WD repeat domain 52	722	Glu-rich.									breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2)	49						tcctcctGAAATTCTTTTTCT	0.453													31	51					0	0	0.002096	0	0	G	113098287	A	G	113098287	3	3	98	1	0	0	0	0	1	0	0	0	17364	101	4	3	3491	3	WDR52	3	113098287	Missense_Mutation	SNP	A	TCGA-DU-6542-01A-11D-1893-08	64404114	113098287	84924143	14	19932											
GABRG1	2565	broad.mit.edu	37	4	46099328	46099328	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6542-01A-11D-1893-08	TCGA-DU-6542-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96dd5230-96ed-40d9-a861-339fdb8a9842	d6e9d687-e7e6-475b-8290-ddea4d015a92	g.chr4:46099328G>A	ENST00000295452.4	-	2	310	c.143C>T	c.(142-144)aCg>aTg	p.T48M		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	48					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	p.T48M(4)		breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)		TTTGTTCACCGTTAAATCCTC	0.343													5	182					0	0	0.001168	0	0	A	46099328	G	A	46099328	3	1	98	1	0	0	0	0	1	0	0	0	6206	1145	40	1	1286	1	GABRG1	4	46099328	Missense_Mutation	SNP	G	TCGA-DU-6542-01A-11D-1893-08		46099328	145054948	15	19933											
GLRA3	8001	broad.mit.edu	37	4	175565195	175565195	+	Silent	SNP	G	G	A			TCGA-DU-6542-01A-11D-1893-08	TCGA-DU-6542-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96dd5230-96ed-40d9-a861-339fdb8a9842	d6e9d687-e7e6-475b-8290-ddea4d015a92	g.chr4:175565195G>A	ENST00000274093.3	-	10	1639	c.1137C>T	c.(1135-1137)agC>agT	p.S379S	GLRA3_ENST00000340217.5_Silent_p.S364S	NM_006529.2	NP_006520.2	O75311	GLRA3_HUMAN	glycine receptor, alpha 3	379					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity			endometrium(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	35		Prostate(90;0.00601)|Breast(14;0.0091)|Melanoma(52;0.00959)|Renal(120;0.0183)|all_neural(102;0.0891)|all_hematologic(60;0.107)		all cancers(43;4.99e-18)|Epithelial(43;1.18e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.88e-09)|STAD - Stomach adenocarcinoma(60;0.00442)|GBM - Glioblastoma multiforme(59;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0421)	Glycine(DB00145)	AGCTGAATCGGCTTTCCCTTA	0.438													4	129					0	0	0.001168	0	0	A	175565195	G	A	175565195	2	1	98	1	0	0	0	0	0	0	0	1	6498	1194	42	2		2	GLRA3	4	175565195	Silent	SNP	G	TCGA-DU-6542-01A-11D-1893-08	129465867	175565195	15589081	16	19934											
VEGFC	7424	broad.mit.edu	37	4	177605151	177605151	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-6542-01A-11D-1893-08	TCGA-DU-6542-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96dd5230-96ed-40d9-a861-339fdb8a9842	d6e9d687-e7e6-475b-8290-ddea4d015a92	g.chr4:177605151G>C	ENST00000280193.2	-	7	1604	c.1189C>G	c.(1189-1191)Cca>Gca	p.P397A	RP11-313E19.2_ENST00000509194.1_RNA|RP11-313E19.2_ENST00000504017.1_RNA	NM_005429.2	NP_005420	P49767	VEGFC_HUMAN	vascular endothelial growth factor C	397					angiogenesis|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of mast cell chemotaxis|substrate-dependent cell migration|vascular endothelial growth factor receptor signaling pathway	membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity			biliary_tract(1)|cervix(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(2)|skin(2)	41		Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397)		GAAAATCCTGGCTCACAAGCC	0.418													50	53					0	0	0.00361	0	0	C	177605151	G	C	177605151	3	2	98	1	0	0	0	0	1	0	0	0	17212	1203	42	5	77	5	VEGFC	4	177605151	Missense_Mutation	SNP	G	TCGA-DU-6542-01A-11D-1893-08	2039956	177605151	13549125	17	19935			1	4		2	2	15	N	T_G	1.582841e-05
VEGFC	7424	broad.mit.edu	37	4	177605165	177605165	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6542-01A-11D-1893-08	TCGA-DU-6542-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96dd5230-96ed-40d9-a861-339fdb8a9842	d6e9d687-e7e6-475b-8290-ddea4d015a92	g.chr4:177605165T>C	ENST00000280193.2	-	7	1590	c.1175A>G	c.(1174-1176)cAg>cGg	p.Q392R	RP11-313E19.2_ENST00000509194.1_RNA|RP11-313E19.2_ENST00000504017.1_RNA	NM_005429.2	NP_005420	P49767	VEGFC_HUMAN	vascular endothelial growth factor C	392					angiogenesis|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of mast cell chemotaxis|substrate-dependent cell migration|vascular endothelial growth factor receptor signaling pathway	membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity			biliary_tract(1)|cervix(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(2)|skin(2)	41		Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397)		ACAAGCCTTCTGGCGGTTCGT	0.418													49	55					0	0	0.00361	0	0	C	177605165	T	C	177605165	3	2	98	1	0	0	0	0	1	0	0	0	17212	1580	55	3	91	3	VEGFC	4	177605165	Missense_Mutation	SNP	T	TCGA-DU-6542-01A-11D-1893-08	14	177605165	13549111	18	19936			1	4		2	2	15	N	T_G	1.582841e-05
DDX43	55510	broad.mit.edu	37	6	74117789	74117789	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6542-01A-11D-1893-08	TCGA-DU-6542-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96dd5230-96ed-40d9-a861-339fdb8a9842	d6e9d687-e7e6-475b-8290-ddea4d015a92	g.chr6:74117789A>G	ENST00000370336.4	+	9	1302	c.1144A>G	c.(1144-1146)Agt>Ggt	p.S382G	DDX43_ENST00000479773.1_3'UTR	NM_018665.2	NP_061135.2	Q9NXZ2	DDX43_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 43	382	Helicase ATP-binding.					intracellular	ATP binding|ATP-dependent RNA helicase activity|RNA binding			NS(1)|breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						TCTGCAAATGAGTAACTTCGT	0.388													26	10					0	0	0.003954	0	0	G	74117789	A	G	74117789	3	3	98	1	0	0	0	0	1	0	0	0	4386	304	11	3	1178	3	DDX43	6	74117789	Missense_Mutation	SNP	A	TCGA-DU-6542-01A-11D-1893-08		74117789	96997278	19	19937											
ZAN	7455	broad.mit.edu	37	7	100370923	100370923	+	RNA	SNP	C	C	T			TCGA-DU-6542-01A-11D-1893-08	TCGA-DU-6542-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96dd5230-96ed-40d9-a861-339fdb8a9842	d6e9d687-e7e6-475b-8290-ddea4d015a92	g.chr7:100370923C>T	ENST00000542585.1	+	0	5589				ZAN_ENST00000421100.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000427578.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			AGGTGCCCACCTGGCAGCAGC	0.587													28	35					0	0	0.005443	0	0	T	100370923	C	T	100370923	1	4	98	0	1	0	0	0	0	0	0	0	17573	681	24	2		2	ZAN	7	100370923	RNA	SNP	C	TCGA-DU-6542-01A-11D-1893-08		100370923	58767740	20	19938											
TRPV5	56302	broad.mit.edu	37	7	142609711	142609711	+	Silent	SNP	G	G	A			TCGA-DU-6542-01A-11D-1893-08	TCGA-DU-6542-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96dd5230-96ed-40d9-a861-339fdb8a9842	d6e9d687-e7e6-475b-8290-ddea4d015a92	g.chr7:142609711G>A	ENST00000265310.1	-	13	2073	c.1725C>T	c.(1723-1725)atC>atT	p.I575I		NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	575					protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					CCATCATGGCGATGAACAAGT	0.542													15	107					0	0	0.003163	0	0	A	142609711	G	A	142609711	2	1	98	1	0	0	0	0	0	0	0	1	16660	1048	37	1		1	TRPV5	7	142609711	Silent	SNP	G	TCGA-DU-6542-01A-11D-1893-08	42238788	142609711	16528952	21	19939											
ABCF2	10061	broad.mit.edu	37	7	150911221	150911221	+	Silent	SNP	G	G	A			TCGA-DU-6542-01A-11D-1893-08	TCGA-DU-6542-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96dd5230-96ed-40d9-a861-339fdb8a9842	d6e9d687-e7e6-475b-8290-ddea4d015a92	g.chr7:150911221G>A	ENST00000287844.2	-	15	1900	c.1791C>T	c.(1789-1791)gaC>gaT	p.D597D	ABCF2_ENST00000222388.2_Silent_p.D597D	NM_007189.1	NP_009120.1	Q9UG63	ABCF2_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 2	597	ABC transporter 2.					ATP-binding cassette (ABC) transporter complex|mitochondrial envelope	ATP binding|ATPase activity|transporter activity			breast(1)|central_nervous_system(1)|large_intestine(4)|lung(15)|ovary(1)|skin(2)	24			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AAGCCAGGATGTCTCCAGGCC	0.542													26	41					0	0	0.003954	0	0	A	150911221	G	A	150911221	2	1	98	1	0	0	0	0	0	0	0	1	66	1368	48	2		2	ABCF2	7	150911221	Silent	SNP	G	TCGA-DU-6542-01A-11D-1893-08	8301510	150911221	8227442	22	19940											
PCMTD1	115294	broad.mit.edu	37	8	52733124	52733124	+	Silent	SNP	A	A	T			TCGA-DU-6542-01A-11D-1893-08	TCGA-DU-6542-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96dd5230-96ed-40d9-a861-339fdb8a9842	d6e9d687-e7e6-475b-8290-ddea4d015a92	g.chr8:52733124A>T	ENST00000360540.5	-	7	1267	c.861T>A	c.(859-861)acT>acA	p.T287T	PCMTD1_ENST00000544451.1_Silent_p.T211T|PCMTD1_ENST00000519559.1_5'UTR|PCMTD1_ENST00000522514.1_Silent_p.T287T	NM_052937.2	NP_443169.2	Q96MG8	PCMD1_HUMAN	protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1	287						cytoplasm	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity			NS(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(17)|prostate(2)|skin(8)|soft_tissue(1)	37		Lung NSC(129;0.0795)|all_lung(136;0.144)				CAAATACGTAAGTGTTAATTC	0.393													9	218					0	0	0.00245	0	0	T	52733124	A	T	52733124	2	4	98	1	0	0	0	0	0	0	0	1	11633	59	3	5		5	PCMTD1	8	52733124	Silent	SNP	A	TCGA-DU-6542-01A-11D-1893-08		52733124	93630898	23	19941											
PTPRD	5789	broad.mit.edu	37	9	8376664	8376664	+	Silent	SNP	C	C	T			TCGA-DU-6542-01A-11D-1893-08	TCGA-DU-6542-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96dd5230-96ed-40d9-a861-339fdb8a9842	d6e9d687-e7e6-475b-8290-ddea4d015a92	g.chr9:8376664C>T	ENST00000381196.4	-	35	4992	c.4449G>A	c.(4447-4449)acG>acA	p.T1483T	PTPRD_ENST00000355233.5_Silent_p.T1077T|PTPRD_ENST00000540109.1_Silent_p.T1483T|PTPRD_ENST00000356435.5_Silent_p.T1483T|PTPRD_ENST00000537002.1_Silent_p.T1073T|PTPRD_ENST00000397606.3_Silent_p.T1076T|PTPRD_ENST00000397617.3_Silent_p.T1076T|PTPRD_ENST00000397611.3_Silent_p.T1073T|PTPRD_ENST00000358503.5_Silent_p.T1461T|PTPRD_ENST00000486161.1_Silent_p.T1076T|PTPRD_ENST00000360074.4_Silent_p.T1470T	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1483	Tyrosine-protein phosphatase 1.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		TATCAAGCAGCGTTACTTGAA	0.453										TSP Lung(15;0.13)			15	41					0	0	0.004007	0	0	T	8376664	C	T	8376664	2	4	98	1	0	0	0	0	0	0	0	1	12851	755	27	1		1	PTPRD	9	8376664	Silent	SNP	C	TCGA-DU-6542-01A-11D-1893-08		8376664	132836767	24	19942											
ARHGAP22	58504	broad.mit.edu	37	10	49658514	49658514	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DU-6542-01A-11D-1893-08	TCGA-DU-6542-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96dd5230-96ed-40d9-a861-339fdb8a9842	d6e9d687-e7e6-475b-8290-ddea4d015a92	g.chr10:49658514delG	ENST00000249601.4	-	9	1954	c.1658delC	c.(1657-1659)ccgfs	p.P553fs	ARHGAP22_ENST00000374170.1_Frame_Shift_Del_p.P394fs|ARHGAP22_ENST00000417912.2_Frame_Shift_Del_p.P569fs|ARHGAP22_ENST00000435790.2_Frame_Shift_Del_p.P559fs|ARHGAP22_ENST00000477708.2_Frame_Shift_Del_p.P386fs|ARHGAP22_ENST00000374172.1_Frame_Shift_Del_p.P444fs|ARHGAP22_ENST00000417247.2_Frame_Shift_Del_p.P463fs	NM_001256024.1|NM_021226.3	NP_001242953.1|NP_067049.2	Q7Z5H3	RHG22_HUMAN	Rho GTPase activating protein 22	553	Ser-rich.				angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol|nucleus	GTPase activator activity			endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						GCTGGGGAGCGGGGAGGGCTC	0.726													2	4	---	---	---	---						-	49658514	G	-	49658514	7	5	98	1	0	1	0	1	0	0	0	0	869	1116	39	0	446	0	ARHGAP22	10	49658514	Frame_Shift_Del	DEL	G	TCGA-DU-6542-01A-11D-1893-08		49658514	85876233	25	19943											
PNLIPRP1	5407	broad.mit.edu	37	10	118364906	118364906	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6542-01A-11D-1893-08	TCGA-DU-6542-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96dd5230-96ed-40d9-a861-339fdb8a9842	d6e9d687-e7e6-475b-8290-ddea4d015a92	g.chr10:118364906T>C	ENST00000528052.1	+	12	1252	c.1181T>C	c.(1180-1182)cTc>cCc	p.L394P	PNLIPRP1_ENST00000358834.4_Missense_Mutation_p.L394P|PNLIPRP1_ENST00000534537.1_Missense_Mutation_p.L394P			P54315	LIPR1_HUMAN	pancreatic lipase-related protein 1	394	PLAT.				lipid metabolic process		calcium ion binding|triglyceride lipase activity			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	38				all cancers(201;0.0161)		AGGGGGATTCTCAAACCAGGC	0.383													3	126					0	0	0.004672	0	0	C	118364906	T	C	118364906	3	2	98	1	0	0	0	0	1	0	0	0	12198	1551	54	3	1223	3	PNLIPRP1	10	118364906	Missense_Mutation	SNP	T	TCGA-DU-6542-01A-11D-1893-08	68706392	118364906	17169841	26	19944											
OR4X1	390113	broad.mit.edu	37	11	48285724	48285724	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6542-01A-11D-1893-08	TCGA-DU-6542-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96dd5230-96ed-40d9-a861-339fdb8a9842	d6e9d687-e7e6-475b-8290-ddea4d015a92	g.chr11:48285724C>A	ENST00000320048.1	+	1	312	c.312C>A	c.(310-312)ttC>ttA	p.F104L		NM_001004726.1	NP_001004726.1	Q8NH49	OR4X1_HUMAN	olfactory receptor, family 4, subfamily X, member 1 (gene/pseudogene)	104					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	28						CCCTCCATTTCTTTGGTGGCA	0.498													33	53					1.62565e-12	2.36458e-12	0.002445	1	0	A	48285724	C	A	48285724	3	1	98	1	0	0	0	0	1	0	0	0	11132	912	32	4	314	4	OR4X1	11	48285724	Missense_Mutation	SNP	C	TCGA-DU-6542-01A-11D-1893-08		48285724	86720792	27	19945											
TRIM48	79097	broad.mit.edu	37	11	55035824	55035824	+	Splice_Site	SNP	A	A	G			TCGA-DU-6542-01A-11D-1893-08	TCGA-DU-6542-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96dd5230-96ed-40d9-a861-339fdb8a9842	d6e9d687-e7e6-475b-8290-ddea4d015a92	g.chr11:55035824A>G	ENST00000417545.2	+	4	641		c.e4-1			NM_024114.3	NP_077019.2	Q8IWZ4	TRI48_HUMAN	tripartite motif containing 48							intracellular	zinc ion binding			endometrium(13)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						TTTTTTTTACAGGCTTTTGGA	0.343													30	47					0	0	0.002445	0	0	G	55035824	A	G	55035824	5	3	98	1	0	0	0	0	0	0	1	0	16584	202	7	3	568	3	TRIM48	11	55035824	Splice_Site	SNP	A	TCGA-DU-6542-01A-11D-1893-08	6750100	55035824	79970692	28	19946											
OR8I2	120586	broad.mit.edu	37	11	55861308	55861308	+	Silent	SNP	T	T	C	rs112181516		TCGA-DU-6542-01A-11D-1893-08	TCGA-DU-6542-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96dd5230-96ed-40d9-a861-339fdb8a9842	d6e9d687-e7e6-475b-8290-ddea4d015a92	g.chr11:55861308T>C	ENST00000302124.2	+	1	556	c.525T>C	c.(523-525)caT>caC	p.H175H		NM_001003750.1	NP_001003750.1	Q8N0Y5	OR8I2_HUMAN	olfactory receptor, family 8, subfamily I, member 2	175					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.C178fs*2(1)		NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53	Esophageal squamous(21;0.00693)					GCATCAATCATTTTTTTTGTG	0.443													7	117					0	0	0.001984	0	0	C	55861308	T	C	55861308	2	2	98	1	0	0	0	0	0	0	0	1	11287	1490	52	3		3	OR8I2	11	55861308	Silent	SNP	T	TCGA-DU-6542-01A-11D-1893-08	825484	55861308	79145208	29	19947											
OR5M9	390162	broad.mit.edu	37	11	56230846	56230846	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-6542-01A-11D-1893-08	TCGA-DU-6542-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96dd5230-96ed-40d9-a861-339fdb8a9842	d6e9d687-e7e6-475b-8290-ddea4d015a92	g.chr11:56230846G>C	ENST00000279791.1	-	1	31	c.32C>G	c.(31-33)aCt>aGt	p.T11S		NM_001004743.1	NP_001004743.1	Q8NGP3	OR5M9_HUMAN	olfactory receptor, family 5, subfamily M, member 9	11					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	36	Esophageal squamous(21;0.00448)					CCCCAGGAGAGTAAATTCTGT	0.418													9	37					0	0	0.004482	0	0	C	56230846	G	C	56230846	3	2	98	1	0	0	0	0	1	0	0	0	11224	1029	36	4	902	4	OR5M9	11	56230846	Missense_Mutation	SNP	G	TCGA-DU-6542-01A-11D-1893-08	369538	56230846	78775670	30	19948											
P2RY6	5031	broad.mit.edu	37	11	73007739	73007739	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6542-01A-11D-1893-08	TCGA-DU-6542-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96dd5230-96ed-40d9-a861-339fdb8a9842	d6e9d687-e7e6-475b-8290-ddea4d015a92	g.chr11:73007739C>T	ENST00000393590.2	+	2	475	c.176C>T	c.(175-177)aCc>aTc	p.T59I	P2RY6_ENST00000393592.2_Missense_Mutation_p.T59I|P2RY6_ENST00000349767.2_Missense_Mutation_p.T59I|P2RY6_ENST00000393591.1_Missense_Mutation_p.T59I|P2RY6_ENST00000540124.1_Missense_Mutation_p.T59I|P2RY6_ENST00000542092.1_Missense_Mutation_p.T59I|P2RY6_ENST00000538328.1_Missense_Mutation_p.T59I|P2RY6_ENST00000540342.1_Missense_Mutation_p.T59I	NM_001277207.1|NM_001277208.1	NP_001264136.1|NP_001264137.1	Q15077	P2RY6_HUMAN	pyrimidinergic receptor P2Y, G-protein coupled, 6	59					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)	14						CGGGCCCTGACCCGCACGGCC	0.612													53	187					0	0	0.00361	0	0	T	73007739	C	T	73007739	3	4	98	1	0	0	0	0	1	0	0	0	11401	507	18	2	178	2	P2RY6	11	73007739	Missense_Mutation	SNP	C	TCGA-DU-6542-01A-11D-1893-08	16776893	73007739	61998777	31	19949											
TP53	7157	broad.mit.edu	37	17	7578190	7578190	+	Missense_Mutation	SNP	T	T	C	rs121912666		TCGA-DU-6542-01A-11D-1893-08	TCGA-DU-6542-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96dd5230-96ed-40d9-a861-339fdb8a9842	d6e9d687-e7e6-475b-8290-ddea4d015a92	g.chr17:7578190T>C	ENST00000420246.2	-	6	791	c.659A>G	c.(658-660)tAt>tGt	p.Y220C	TP53_ENST00000359597.4_Missense_Mutation_p.Y220C|TP53_ENST00000574684.1_Intron|TP53_ENST00000269305.4_Missense_Mutation_p.Y220C|TP53_ENST00000445888.2_Missense_Mutation_p.Y220C|TP53_ENST00000413465.2_Missense_Mutation_p.Y220C|TP53_ENST00000455263.2_Missense_Mutation_p.Y220C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	220	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 a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.Y220C(278)|p.Y127C(24)|p.Y220S(12)|p.?(11)|p.0?(8)|p.D208fs*1(1)|p.Y220_P223delYEPP(1)|p.V218_E224delVPYEPPE(1)|p.V218_E221delVPYE(1)|p.Y127S(1)|p.V218_Y220delVPY(1)|p.Y220fs*25(1)|p.V216_Y220delVVVPY(1)|p.Y220fs*2(1)|p.V218fs*26(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)		AGGCGGCTCATAGGGCACCAC	0.557		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)			25	4					0	0	0.005443	0	0	C	7578190	T	C	7578190	3	2	98	1	0	0	0	0	1	0	0	0	16442	1406	49	3	635	3	TP53	17	7578190	Missense_Mutation	SNP	T	TCGA-DU-6542-01A-11D-1893-08		7578190	73617020	32	19950											
ADAP2	55803	broad.mit.edu	37	17	29271931	29271931	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6542-01A-11D-1893-08	TCGA-DU-6542-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96dd5230-96ed-40d9-a861-339fdb8a9842	d6e9d687-e7e6-475b-8290-ddea4d015a92	g.chr17:29271931A>G	ENST00000330889.3	+	6	852	c.517A>G	c.(517-519)Agc>Ggc	p.S173G	ADAP2_ENST00000580525.1_Missense_Mutation_p.S179G	NM_018404.2	NP_060874.1	Q9NPF8	ADAP2_HUMAN	ArfGAP with dual PH domains 2	173	PH 1.				heart development|regulation of ARF GTPase activity	mitochondrial envelope|plasma membrane	ARF GTPase activator activity|inositol 1,3,4,5 tetrakisphosphate binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding, bridging|zinc ion binding	p.?(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						TCAGGGTAAAAGCCCCAAAGC	0.498													3	111					0	0	0.004672	0	0	G	29271931	A	G	29271931	3	3	98	1	0	0	0	0	1	0	0	0	279	72	3	3	539	3	ADAP2	17	29271931	Missense_Mutation	SNP	A	TCGA-DU-6542-01A-11D-1893-08	21693741	29271931	51923279	33	19951											
ABCC3	8714	broad.mit.edu	37	17	48733300	48733300	+	Silent	SNP	C	C	T			TCGA-DU-6542-01A-11D-1893-08	TCGA-DU-6542-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96dd5230-96ed-40d9-a861-339fdb8a9842	d6e9d687-e7e6-475b-8290-ddea4d015a92	g.chr17:48733300C>T	ENST00000285238.8	+	2	233	c.153C>T	c.(151-153)tgC>tgT	p.C51C	ABCC3_ENST00000427699.1_Silent_p.C51C	NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 3	51					bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Glibenclamide(DB01016)	CCCTGCCCTGCTACTTGCTCT	0.597													9	57					0	0	0.006214	0	0	T	48733300	C	T	48733300	2	4	98	1	0	0	0	0	0	0	0	1	54	805	28	2		2	ABCC3	17	48733300	Silent	SNP	C	TCGA-DU-6542-01A-11D-1893-08	19461369	48733300	32461910	34	19952											
APPBP2	10513	broad.mit.edu	37	17	58556547	58556547	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-6542-01A-11D-1893-08	TCGA-DU-6542-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96dd5230-96ed-40d9-a861-339fdb8a9842	d6e9d687-e7e6-475b-8290-ddea4d015a92	g.chr17:58556547C>G	ENST00000083182.3	-	4	752	c.465G>C	c.(463-465)gaG>gaC	p.E155D		NM_001282476.1|NM_006380.2	NP_001269405.1|NP_006371.2	Q92624	APBP2_HUMAN	amyloid beta precursor protein (cytoplasmic tail) binding protein 2	155					intracellular protein transport	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|nucleus	microtubule motor activity|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(17)|pancreas(1)|urinary_tract(1)	25	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.67e-13)|all cancers(12;1.44e-11)|Colorectal(3;0.01)			AATGAAGCATCTCATCGTGTA	0.383													30	55					0	0	0.002445	0	0	G	58556547	C	G	58556547	3	3	98	1	0	0	0	0	1	0	0	0	813	912	32	4	1332	4	APPBP2	17	58556547	Missense_Mutation	SNP	C	TCGA-DU-6542-01A-11D-1893-08	9823247	58556547	22638663	35	19953											
EPHA8	2046	broad.mit.edu	37	1	22915717	22915717	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chr1:22915717G>A	ENST00000374644.4	+	5	1405	c.1333G>A	c.(1333-1335)Gtc>Atc	p.V445I	EPHA8_ENST00000538803.1_Missense_Mutation_p.V445I|EPHA8_ENST00000166244.3_Intron	NM_001006943.1	NP_001006944.1	P29322	EPHA8_HUMAN	EPH receptor A8	0	Fibronectin type-III 2.					integral to plasma membrane	ATP binding|ephrin receptor activity	p.V445I(1)		breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		GAGAAACTCCGTCCCGCAGCG	0.667													14	23					0	0	1	0	0	A	22915717	G	A	22915717	3	1	99	1	0	0	0	0	1	0	0	0	5201	1145	40	1	1351	1	EPHA8	1	22915717	Missense_Mutation	SNP	G	TCGA-DU-7006-01A-11D-2024-08		22915717	226334904	1	19954											
SRRM1	10250	broad.mit.edu	37	1	24977940	24977940	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chr1:24977940C>T	ENST00000323848.9	+	6	877	c.562C>T	c.(562-564)Cct>Tct	p.P188S	SRRM1_ENST00000479034.1_3'UTR|SRRM1_ENST00000537199.1_Intron|SRRM1_ENST00000447431.2_Missense_Mutation_p.P188S|SRRM1_ENST00000374389.4_Missense_Mutation_p.P188S	NM_005839.3	NP_005830.2	Q8IYB3	SRRM1_HUMAN	serine/arginine repetitive matrix 1	188	Arg-rich.				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nuclear matrix|nuclear speck	DNA binding|protein binding|RNA binding			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	36		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)		ACGATCTTCCCCTGTCAGGAG	0.463													15	19					0	0	1	0	0	T	24977940	C	T	24977940	3	4	99	1	0	0	0	0	1	0	0	0	15224	623	22	2	584	2	SRRM1	1	24977940	Missense_Mutation	SNP	C	TCGA-DU-7006-01A-11D-2024-08	2062223	24977940	224272681	2	19955											
MAST2	23139	broad.mit.edu	37	1	46499563	46499563	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chr1:46499563G>C	ENST00000361297.2	+	27	3910	c.3627G>C	c.(3625-3627)aaG>aaC	p.K1209N	MAST2_ENST00000372009.2_Missense_Mutation_p.K1116N	NM_015112.2	NP_055927.2	Q6P0Q8	MAST2_HUMAN	microtubule associated serine/threonine kinase 2	1209					regulation of interleukin-12 biosynthetic process|spermatid differentiation	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity			breast(1)|lung(3)|ovary(5)|stomach(2)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)					ACAAGGCCAAGATGGCCCGAA	0.572													14	21					0	0	1	0	0	C	46499563	G	C	46499563	3	2	99	1	0	0	0	0	1	0	0	0	9375	933	33	4	3733	4	MAST2	1	46499563	Missense_Mutation	SNP	G	TCGA-DU-7006-01A-11D-2024-08	21521623	46499563	202751058	3	19956											
PIK3R3	8503	broad.mit.edu	37	1	46597617	46597618	+	Frame_Shift_Ins	INS	-	-	TGTA			TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chr1:46597617_46597618insTGTA	ENST00000262741.5	-	1	696_697	c.7_8insTACA	c.(7-9)aatfs	p.N3fs	PIK3R3_ENST00000540385.1_Intron|PIK3R3_ENST00000423209.1_Frame_Shift_Ins_p.N3fs|PIK3R3_ENST00000372006.1_Frame_Shift_Ins_p.N3fs|PIK3R3_ENST00000420542.1_Frame_Shift_Ins_p.N3fs|PIK3R3_ENST00000340332.6_Frame_Shift_Ins_p.N3fs|PIK3R3_ENST00000354242.4_Frame_Shift_Ins_p.N3fs	NM_003629.3	NP_003620.3	Q92569	P55G_HUMAN	phosphoinositide-3-kinase, regulatory subunit 3 (gamma)	3					insulin receptor signaling pathway|platelet activation|T cell costimulation		1-phosphatidylinositol-3-kinase activity|protein binding			endometrium(1)|large_intestine(5)|lung(6)|prostate(2)	14	Acute lymphoblastic leukemia(166;0.155)					CCACACCGTATTGTACATCGCG	0.411													15	43	---	---	---	---						TGTA	46597618	-	TGTA	46597617	7	5	99	1	0	1	1	0	0	0	0	0	11968	1493	52	0	1417	0	PIK3R3	1	46597617	Frame_Shift_Ins	INS	-	TCGA-DU-7006-01A-11D-2024-08	98054	46597617	202653004	4	19957											
CACNA1E	777	broad.mit.edu	37	1	181708361	181708361	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chr1:181708361G>A	ENST00000526775.1	+	24	3799	c.3634G>A	c.(3634-3636)Gtt>Att	p.V1212I	CACNA1E_ENST00000360108.3_Missense_Mutation_p.V1212I|CACNA1E_ENST00000357570.5_Missense_Mutation_p.V1182I|CACNA1E_ENST00000358338.5_Missense_Mutation_p.V1163I|CACNA1E_ENST00000367567.4_Missense_Mutation_p.V838I|CACNA1E_ENST00000367570.1_Missense_Mutation_p.V1231I|CACNA1E_ENST00000367573.2_Missense_Mutation_p.V1231I	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1231					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						TGTGGTGGTCGTTGGCGCATT	0.502													55	93					0	0	1	0	0	A	181708361	G	A	181708361	3	1	99	1	0	0	0	0	1	0	0	0	2560	1145	40	1	3789	1	CACNA1E	1	181708361	Missense_Mutation	SNP	G	TCGA-DU-7006-01A-11D-2024-08	135110744	181708361	67542260	5	19958											
KCNT2	343450	broad.mit.edu	37	1	196197431	196197431	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chr1:196197431G>A	ENST00000367433.5	-	27	3360	c.3259C>T	c.(3259-3261)Cca>Tca	p.P1087S	KCNT2_ENST00000367431.4_Missense_Mutation_p.P1045S|KCNT2_ENST00000451324.2_3'UTR|KCNT2_ENST00000294725.9_Missense_Mutation_p.P1111S|KCNT2_ENST00000609185.1_Missense_Mutation_p.P1044S|KCNT2_ENST00000498426.1_5'UTR	NM_198503.2	NP_940905.2	Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	1111						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						TCACTGTTTGGAAGGTAGGCC	0.353													12	34					0	0	1	0	0	A	196197431	G	A	196197431	3	1	99	1	0	0	0	0	1	0	0	0	8136	1174	41	2	80	2	KCNT2	1	196197431	Missense_Mutation	SNP	G	TCGA-DU-7006-01A-11D-2024-08	14489070	196197431	53053190	6	19959											
HEATR5B	54497	broad.mit.edu	37	2	37217840	37217840	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chr2:37217840T>C	ENST00000233099.5	-	34	5743	c.5648A>G	c.(5647-5649)aAt>aGt	p.N1883S	HEATR5B_ENST00000354531.2_Missense_Mutation_p.N1794S	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	1883							binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				CATGCAGCCATTCTGTAATGA	0.388													12	63					0	0	1	0	0	C	37217840	T	C	37217840	3	2	99	1	0	0	0	0	1	0	0	0	7073	1493	52	3	579	3	HEATR5B	2	37217840	Missense_Mutation	SNP	T	TCGA-DU-7006-01A-11D-2024-08		37217840	205981533	7	19960											
DFNB59	494513	broad.mit.edu	37	2	179319235	179319235	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chr2:179319235C>T	ENST00000409117.3	+	3	744	c.388C>T	c.(388-390)Ctc>Ttc	p.L130F	DFNB59_ENST00000375129.4_Missense_Mutation_p.L130F	NM_001042702.3	NP_001036167.1	Q0ZLH3	PJVK_HUMAN	deafness, autosomal recessive 59	130					sensory perception of sound					breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.0159)|all cancers(119;0.0564)			ATCAACATTACTCAAAGAAAT	0.308													18	17					0	0	1	0	0	T	179319235	C	T	179319235	3	4	99	1	0	0	0	0	1	0	0	0	4484	565	20	2	394	2	DFNB59	2	179319235	Missense_Mutation	SNP	C	TCGA-DU-7006-01A-11D-2024-08	142101395	179319235	63880138	8	19961											
CTLA4	1493	broad.mit.edu	37	2	204732687	204732687	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chr2:204732687C>T	ENST00000302823.3	+	1	179	c.22C>T	c.(22-24)Cgg>Tgg	p.R8W	CTLA4_ENST00000295854.6_Missense_Mutation_p.R8W|CTLA4_ENST00000487393.1_3'UTR|CTLA4_ENST00000472206.1_Missense_Mutation_p.R8W	NM_005214.4	NP_005205.2	P16410	CTLA4_HUMAN	cytotoxic T-lymphocyte-associated protein 4	8					B cell receptor signaling pathway|immune response|negative regulation of B cell proliferation|negative regulation of regulatory T cell differentiation|positive regulation of apoptosis|response to DNA damage stimulus|T cell costimulation	clathrin-coated endocytic vesicle|external side of plasma membrane|Golgi apparatus|integral to plasma membrane|perinuclear region of cytoplasm				large_intestine(4)|lung(4)|skin(1)	9					Abatacept(DB01281)	TGGATTTCAGCGGCACAAGGC	0.498													5	33					0	0	1	0	0	T	204732687	C	T	204732687	3	4	99	1	0	0	0	0	1	0	0	0	4035	759	27	1	24	1	CTLA4	2	204732687	Missense_Mutation	SNP	C	TCGA-DU-7006-01A-11D-2024-08	25413452	204732687	38466686	9	19962											
PPARG	5468	broad.mit.edu	37	3	12421382	12421382	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chr3:12421382C>G	ENST00000397026.2	+	4	579	c.196C>G	c.(196-198)Cca>Gca	p.P66A	PPARG_ENST00000539812.1_Missense_Mutation_p.P58A|PPARG_ENST00000397015.2_Missense_Mutation_p.P60A|PPARG_ENST00000397012.2_Missense_Mutation_p.P60A|PPARG_ENST00000397000.1_Missense_Mutation_p.P60A|PPARG_ENST00000287820.6_Missense_Mutation_p.P88A|PPARG_ENST00000397010.2_Missense_Mutation_p.P60A|PPARG_ENST00000309576.6_Missense_Mutation_p.P60A			P37231	PPARG_HUMAN	peroxisome proliferator-activated receptor gamma	88					activation of caspase activity|cell fate commitment|cell maturation|cellular response to insulin stimulus|epithelial cell differentiation|glucose homeostasis|induction of apoptosis|innate immune response|lipid homeostasis|lipoprotein transport|long-chain fatty acid transport|low-density lipoprotein particle receptor biosynthetic process|monocyte differentiation|negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|placenta development|positive regulation of fat cell differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to lipid|response to low-density lipoprotein particle stimulus|white fat cell differentiation	cytosol|nucleoplasm	activating transcription factor binding|arachidonic acid binding|drug binding|enzyme binding|prostaglandin receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding		PAX8/PPARG(117)	breast(2)|endometrium(4)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20					Atorvastatin(DB01076)|Icosapent(DB00159)|Pioglitazone(DB01132)|Rosiglitazone(DB00412)|Troglitazone(DB00197)	AAGAACAGATCCAGTGGTTGC	0.398			T	PAX8	follicular thyroid		"Insulin resistance ; lipodystrophy, familial partial L;diabetes mellitus, insulin-resistantI, with acanthosis nigricans and hypertension"						29	79					0	0	1	0	0	G	12421382	C	G	12421382	3	3	99	1	0	0	0	0	1	0	0	0	12344	855	30	5	268	5	PPARG	3	12421382	Missense_Mutation	SNP	C	TCGA-DU-7006-01A-11D-2024-08		12421382	185601048	10	19963											
NEK10	152110	broad.mit.edu	37	3	27352499	27352499	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chr3:27352499G>A	ENST00000429845.2	-	10	939	c.577C>T	c.(577-579)Caa>Taa	p.Q193*	NEK10_ENST00000341435.5_Nonsense_Mutation_p.Q193*			Q6ZWH5	NEK10_HUMAN	NIMA-related kinase 10	193							ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						GCAAGTTTTTGAAAAATATCT	0.468													20	49					0	0	1	0	0	A	27352499	G	A	27352499	4	1	99	1	0	0	0	0	0	1	0	0	10369	1299	45	2	1625	2	NEK10	3	27352499	Nonsense_Mutation	SNP	G	TCGA-DU-7006-01A-11D-2024-08	14931117	27352499	170669931	11	19964											
PIK3CA	5290	broad.mit.edu	37	3	178936095	178936095	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chr3:178936095A>C	ENST00000263967.3	+	10	1794	c.1637A>C	c.(1636-1638)cAg>cCg	p.Q546P		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	546	PI3K helical.		Q -> E (in cancer).|Q -> K (in cancer).|Q -> P (in cancer).|Q -> R (in cancer).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.Q546R(30)|p.Q546P(18)|p.Q546L(5)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			ATCACTGAGCAGGAGAAAGAT	0.363		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			10	25					0	0	1	0	0	C	178936095	A	C	178936095	3	2	99	1	0	0	0	0	1	0	0	0	11961	188	7	5	1671	5	PIK3CA	3	178936095	Missense_Mutation	SNP	A	TCGA-DU-7006-01A-11D-2024-08	151583596	178936095	19086335	12	19965											
EIF4G1	1981	broad.mit.edu	37	3	184043126	184043126	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chr3:184043126C>T	ENST00000342981.4	+	18	3343	c.2929C>T	c.(2929-2931)Cgc>Tgc	p.R977C	EIF4G1_ENST00000435046.2_Missense_Mutation_p.R780C|EIF4G1_ENST00000346169.2_Missense_Mutation_p.R976C|EIF4G1_ENST00000352767.3_Missense_Mutation_p.R983C|EIF4G1_ENST00000319274.6_Missense_Mutation_p.R976C|EIF4G1_ENST00000434061.2_Missense_Mutation_p.R781C|EIF4G1_ENST00000424196.1_Missense_Mutation_p.R983C|EIF4G1_ENST00000411531.1_Missense_Mutation_p.R937C|EIF4G1_ENST00000392537.2_Missense_Mutation_p.R889C|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000441154.1_Missense_Mutation_p.R813C|EIF4G1_ENST00000350481.5_Missense_Mutation_p.R812C|EIF4G1_ENST00000414031.1_Missense_Mutation_p.R936C|EIF4G1_ENST00000382330.3_Missense_Mutation_p.R983C|EIF4G1_ENST00000427845.1_Missense_Mutation_p.R890C	NM_182917.4	NP_886553	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	976	eIF3/EIF4A-binding.				insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			ATCCCGCATCCGCTTTATGCT	0.527													40	70					0	0	1	0	0	T	184043126	C	T	184043126	3	4	99	1	0	0	0	0	1	0	0	0	5064	652	23	1	2992	1	EIF4G1	3	184043126	Missense_Mutation	SNP	C	TCGA-DU-7006-01A-11D-2024-08	5107031	184043126	13979304	13	19966											
ATP13A3	79572	broad.mit.edu	37	3	194181443	194181443	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chr3:194181443C>T	ENST00000439040.1	-	4	960	c.169G>A	c.(169-171)Gcg>Acg	p.A57T	ATP13A3_ENST00000256031.4_Missense_Mutation_p.A57T			Q9H7F0	AT133_HUMAN	ATPase type 13A3	57					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	24	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)		ACACAGGTCGCTTTCACCCGC	0.448													30	58					0	0	1	0	0	T	194181443	C	T	194181443	3	4	99	1	0	0	0	0	1	0	0	0	1124	797	28	2	3631	2	ATP13A3	3	194181443	Missense_Mutation	SNP	C	TCGA-DU-7006-01A-11D-2024-08	10138317	194181443	3840987	14	19967											
MAEA	10296	broad.mit.edu	37	4	1316242	1316242	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chr4:1316242C>G	ENST00000303400.4	+	4	593	c.530C>G	c.(529-531)aCc>aGc	p.T177S	MAEA_ENST00000514708.1_Intron|MAEA_ENST00000264750.6_Intron|MAEA_ENST00000452175.2_Missense_Mutation_p.T98S|MAEA_ENST00000505839.1_Missense_Mutation_p.T129S|MAEA_ENST00000505177.2_Missense_Mutation_p.T177S|MAEA_ENST00000510794.1_Missense_Mutation_p.T176S	NM_001017405.1	NP_001017405.1	Q7L5Y9	MAEA_HUMAN	macrophage erythroblast attacher	177	CTLH.				cell adhesion|cell cycle|cell division|erythrocyte maturation|negative regulation of myeloid cell apoptosis|regulation of mitotic cell cycle	actomyosin contractile ring|integral to plasma membrane|membrane fraction|nuclear matrix|spindle	actin binding			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(23;0.0201)			GAGACGGCCACCTGCCTGGCC	0.617													16	75					0	0	1	0	0	G	1316242	C	G	1316242	3	3	99	1	0	0	0	0	1	0	0	0	9199	507	18	5	544	5	MAEA	4	1316242	Missense_Mutation	SNP	C	TCGA-DU-7006-01A-11D-2024-08		1316242	189838034	15	19968											
KDR	3791	broad.mit.edu	37	4	55976872	55976872	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chr4:55976872C>T	ENST00000263923.4	-	8	1335	c.1040G>A	c.(1039-1041)cGt>cAt	p.R347H		NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	347	Ig-like C2-type 4.				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity	p.R347H(1)		NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	GATTCTGACACGCTCCCCCAC	0.418			Mis		"NSCLC, angiosarcoma"					TSP Lung(20;0.16)			8	105					0	0	1	0	0	T	55976872	C	T	55976872	3	4	99	1	0	0	0	0	1	0	0	0	8182	536	19	1	3122	1	KDR	4	55976872	Missense_Mutation	SNP	C	TCGA-DU-7006-01A-11D-2024-08	54660630	55976872	135177404	16	19969											
TRPC3	7222	broad.mit.edu	37	4	122853813	122853813	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chr4:122853813G>T	ENST00000264811.5	-	1	799	c.381C>A	c.(379-381)ttC>ttA	p.F127L	TRPC3_ENST00000513531.1_Missense_Mutation_p.F127L|TRPC3_ENST00000379645.3_Missense_Mutation_p.F200L	NM_003305.2	NP_003296.1	Q13507	TRPC3_HUMAN	transient receptor potential cation channel, subfamily C, member 3	115					axon guidance|phototransduction|platelet activation	integral to plasma membrane	protein binding|store-operated calcium channel activity			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						TGCTGGCCGCGAAGCCAGGGT	0.637													12	33					2.27111e-07	2.36674e-07	1	1	0	T	122853813	G	T	122853813	3	4	99	1	0	0	0	0	1	0	0	0	16640	1049	37	5	2209	5	TRPC3	4	122853813	Missense_Mutation	SNP	G	TCGA-DU-7006-01A-11D-2024-08	66876941	122853813	68300463	17	19970											
RBM46	166863	broad.mit.edu	37	4	155719190	155719190	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chr4:155719190C>T	ENST00000510397.1	+	3	558	c.379C>T	c.(379-381)Cga>Tga	p.R127*	RBM46_ENST00000514866.1_Nonsense_Mutation_p.R127*|RBM46_ENST00000281722.3_Nonsense_Mutation_p.R127*	NM_001277173.1	NP_001264102.1	Q8TBY0	RBM46_HUMAN	RNA binding motif protein 46	127	RRM 1.						nucleotide binding|RNA binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|skin(3)|urinary_tract(2)	26	all_hematologic(180;0.24)	Renal(120;0.0854)				TTATGAAATTCGACCAGGGAA	0.338													18	50					0	0	1	0	0	T	155719190	C	T	155719190	4	4	99	1	0	0	0	0	0	1	0	0	13192	876	31	1	385	1	RBM46	4	155719190	Nonsense_Mutation	SNP	C	TCGA-DU-7006-01A-11D-2024-08	32865377	155719190	35435086	18	19971											
NPR3	4883	broad.mit.edu	37	5	32712556	32712556	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chr5:32712556A>T	ENST00000265074.8	+	1	1017	c.674A>T	c.(673-675)cAg>cTg	p.Q225L	NPR3_ENST00000415685.2_Intron|NPR3_ENST00000415167.2_Missense_Mutation_p.Q225L|NPR3_ENST00000434067.2_Intron	NM_000908.3|NM_001204375.1	NP_000899.1|NP_001191304.1	P17342	ANPRC_HUMAN	natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C)	225					osteoclast proliferation|positive regulation of urine volume|regulation of blood pressure|regulation of osteoblast proliferation|skeletal system development	integral to membrane	hormone binding|natriuretic peptide receptor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24					Nesiritide(DB04899)	GAGGTCTTCCAGGAGGAGGGT	0.582													10	95					0	0	1	0	0	T	32712556	A	T	32712556	3	4	99	1	0	0	0	0	1	0	0	0	10644	188	7	5	676	5	NPR3	5	32712556	Missense_Mutation	SNP	A	TCGA-DU-7006-01A-11D-2024-08		32712556	148202704	19	19972											
NDUFAF2	91942	broad.mit.edu	37	5	60241050	60241050	+	Translation_Start_Site	SNP	G	G	A			TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chr5:60241050G>A	ENST00000296597.5	+	0	95				NDUFAF2_ENST00000511107.1_De_novo_Start_OutOfFrame	NM_174889.4	NP_777549.1	Q8N183	MIMIT_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 2							membrane|mitochondrion	electron carrier activity|NADH dehydrogenase (ubiquinone) activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|ovary(1)	6		Lung NSC(810;3.36e-05)|Prostate(74;0.0225)|Ovarian(174;0.17)|Breast(144;0.237)				TGCGGGTCCCGCTGCTGGCAG	0.632													3	20					0	0	1	0	0	A	60241050	G	A	60241050	1	1	99	1	0	0	0	0	0	0	0	0	10322	1102	38	1		1	NDUFAF2	5	60241050	Translation_Start_Site	SNP	G	TCGA-DU-7006-01A-11D-2024-08	27528494	60241050	120674210	20	19973											
SLCO4C1	353189	broad.mit.edu	37	5	101583042	101583042	+	Silent	SNP	C	C	T			TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chr5:101583042C>T	ENST00000310954.6	-	10	2011	c.1725G>A	c.(1723-1725)gcG>gcA	p.A575A		NM_180991.4	NP_851322.3	Q6ZQN7	SO4C1_HUMAN	solute carrier organic anion transporter family, member 4C1	575					cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		TGGGCAGTTTCGCACAATGAG	0.353													54	88					0	0	1	0	0	T	101583042	C	T	101583042	2	4	99	1	0	0	0	0	0	0	0	1	14785	871	31	1		1	SLCO4C1	5	101583042	Silent	SNP	C	TCGA-DU-7006-01A-11D-2024-08	41341992	101583042	79332218	21	19974											
MEGF10	84466	broad.mit.edu	37	5	126790302	126790302	+	Splice_Site	SNP	G	G	A			TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chr5:126790302G>A	ENST00000274473.6	+	24	3292	c.3025G>A	c.(3025-3027)Gac>Aac	p.D1009N	MEGF10_ENST00000503335.2_Splice_Site_p.D1009N|MEGF10_ENST00000510828.1_3'UTR	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10	1009	Necessary for formation of large intracellular vacuoles.				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)		ATCCTTAAAAGGTATCATGTA	0.323													12	28					0	0	1	0	0	A	126790302	G	A	126790302	5	1	99	1	0	0	0	0	0	0	1	0	9510	1014	35	2	3111	2	MEGF10	5	126790302	Splice_Site	SNP	G	TCGA-DU-7006-01A-11D-2024-08	25207260	126790302	54124958	22	19975											
PCDHGA5	56110	broad.mit.edu	37	5	140746124	140746124	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chr5:140746124G>A	ENST00000518069.1	+	1	2227	c.2227G>A	c.(2227-2229)Gtg>Atg	p.V743M	PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1														endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTTTGTGGGCGTGGATGGGGT	0.632													56	83					0	0	1	0	0	A	140746124	G	A	140746124	3	1	99	1	0	0	0	0	1	0	0	0	11604	1145	40	1	2229	1	PCDHGA5	5	140746124	Missense_Mutation	SNP	G	TCGA-DU-7006-01A-11D-2024-08	13955822	140746124	40169136	23	19976											
PAK1IP1	55003	broad.mit.edu	37	6	10707679	10707679	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chr6:10707679G>A	ENST00000379568.3	+	8	1063	c.772G>A	c.(772-774)Gag>Aag	p.E258K		NM_017906.2	NP_060376.2	Q9NWT1	PK1IP_HUMAN	PAK1 interacting protein 1	258					negative regulation of signal transduction	nucleolus|plasma membrane		p.E258Q(1)		kidney(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(1)	12	Ovarian(93;0.107)|Breast(50;0.137)	all_hematologic(90;0.117)				TGAAATTCCAGAGCATCATGT	0.328													38	125					0	0	1	0	0	A	10707679	G	A	10707679	3	1	99	1	0	0	0	0	1	0	0	0	11447	943	33	2	802	2	PAK1IP1	6	10707679	Missense_Mutation	SNP	G	TCGA-DU-7006-01A-11D-2024-08		10707679	160407388	24	19977											
GPRC6A	222545	broad.mit.edu	37	6	117130650	117130650	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chr6:117130650C>T	ENST00000310357.3	-	2	346	c.325G>A	c.(325-327)Gca>Aca	p.A109T	GPRC6A_ENST00000530250.1_Missense_Mutation_p.A109T|GPRC6A_ENST00000368549.3_Missense_Mutation_p.A109T	NM_148963.2	NP_683766.2	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, family C, group 6, member A	109					response to amino acid stimulus		G-protein coupled receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		GCTGCCATTGCCACTGTGACT	0.428													15	23					0	0	1	0	0	T	117130650	C	T	117130650	3	4	99	1	0	0	0	0	1	0	0	0	6769	739	26	2	2475	2	GPRC6A	6	117130650	Missense_Mutation	SNP	C	TCGA-DU-7006-01A-11D-2024-08	106422971	117130650	53984417	25	19978											
EGFR	1956	broad.mit.edu	37	7	55221711	55221711	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chr7:55221711G>C	ENST00000275493.2	+	7	932	c.755G>C	c.(754-756)cGc>cCc	p.R252P	EGFR_ENST00000342916.3_Missense_Mutation_p.R252P|EGFR_ENST00000442591.1_Missense_Mutation_p.R252P|EGFR_ENST00000454757.2_Missense_Mutation_p.R199P|EGFR_ENST00000455089.1_Missense_Mutation_p.R207P|EGFR_ENST00000344576.2_Missense_Mutation_p.R252P|EGFR_ENST00000420316.2_Missense_Mutation_p.R252P	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	252					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	TAGGTCTGCCGCAAATTCCGA	0.587		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			16	109					0	0	1	0	0	C	55221711	G	C	55221711	3	2	99	1	0	0	0	0	1	0	0	0	4993	1087	38	5	781	5	EGFR	7	55221711	Missense_Mutation	SNP	G	TCGA-DU-7006-01A-11D-2024-08		55221711	103916952	26	19979											
PON1	5444	broad.mit.edu	37	7	94947701	94947701	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chr7:94947701G>A	ENST00000222381.3	-	2	310	c.79C>T	c.(79-81)Cga>Tga	p.R27*	PON1_ENST00000542556.1_Intron	NM_000446.5	NP_000437.3	P27169	PON1_HUMAN	paraoxonase 1	27					aromatic compound catabolic process|carboxylic acid catabolic process|organophosphate catabolic process|phosphatidylcholine metabolic process|positive regulation of binding|positive regulation of cholesterol efflux|positive regulation of transporter activity|response to external stimulus	spherical high-density lipoprotein particle	aryldialkylphosphatase activity|arylesterase activity|calcium ion binding|phospholipid binding|protein homodimerization activity	p.R27*(1)		autonomic_ganglia(1)|endometrium(2)|large_intestine(6)|lung(11)|pancreas(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	27	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		STAD - Stomach adenocarcinoma(171;0.0031)		Atorvastatin(DB01076)|Cefazolin(DB01327)	GCATTAAGTCGTGTTCTGTGG	0.388													7	92					0	0	1	0	0	A	94947701	G	A	94947701	4	1	99	1	0	0	0	0	0	1	0	0	12296	1153	40	1	1020	1	PON1	7	94947701	Nonsense_Mutation	SNP	G	TCGA-DU-7006-01A-11D-2024-08	39725990	94947701	64190962	27	19980											
NOS3	4846	broad.mit.edu	37	7	150704320	150704320	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chr7:150704320G>A	ENST00000297494.3	+	17	2425	c.2068G>A	c.(2068-2070)Ggc>Agc	p.G690S	NOS3_ENST00000461406.1_Missense_Mutation_p.G484S	NM_000603.4	NP_000594.2	P29474	NOS3_HUMAN	nitric oxide synthase 3 (endothelial cell)	690	Flavodoxin-like.				anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	caveola|cytoskeleton|cytosol|Golgi membrane	actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)	CGAGCTGTGCGGCCAGGAGGA	0.706													10	47					0	0	1	0	0	A	150704320	G	A	150704320	3	1	99	1	0	0	0	0	1	0	0	0	10591	1116	39	1	2412	1	NOS3	7	150704320	Missense_Mutation	SNP	G	TCGA-DU-7006-01A-11D-2024-08	55756619	150704320	8434343	28	19981											
FAM135B	51059	broad.mit.edu	37	8	139149434	139149434	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chr8:139149434G>T	ENST00000395297.1	-	19	4141	c.3971C>A	c.(3970-3972)gCc>gAc	p.A1324D		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	1324										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			TTCAATCCTGGCTGAATGAAA	0.388										HNSCC(54;0.14)			37	54					4.32679e-17	4.60594e-17	1	1	0	T	139149434	G	T	139149434	3	4	99	1	0	0	0	0	1	0	0	0	5480	1203	42	5	257	5	FAM135B	8	139149434	Missense_Mutation	SNP	G	TCGA-DU-7006-01A-11D-2024-08		139149434	7214588	29	19982											
TSNARE1	203062	broad.mit.edu	37	8	143427185	143427185	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chr8:143427185G>A	ENST00000524325.1	-	3	332	c.157C>T	c.(157-159)Cag>Tag	p.Q53*	TSNARE1_ENST00000307180.3_Nonsense_Mutation_p.Q53*|TSNARE1_ENST00000520166.1_Nonsense_Mutation_p.Q53*|TSNARE1_ENST00000519651.1_Intron			Q96NA8	TSNA1_HUMAN	t-SNARE domain containing 1	53					vesicle-mediated transport	integral to membrane				breast(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(6)|ovary(2)|stomach(2)|urinary_tract(1)	20	all_cancers(97;7.39e-11)|all_epithelial(106;8.98e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000332)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					CAGCGGTTCTGCAGCTTGCTC	0.597													17	36					0	0	1	0	0	A	143427185	G	A	143427185	4	1	99	1	0	0	0	0	0	1	0	0	16691	1328	46	2	1428	2	TSNARE1	8	143427185	Nonsense_Mutation	SNP	G	TCGA-DU-7006-01A-11D-2024-08	4277751	143427185	2936837	30	19983											
FBP2	8789	broad.mit.edu	37	9	97355890	97355890	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chr9:97355890G>A	ENST00000375337.3	-	1	185	c.119C>T	c.(118-120)aCg>aTg	p.T40M		NM_003837.2	NP_003828.2	O00757	F16P2_HUMAN	fructose-1,6-bisphosphatase 2	40					fructose metabolic process|gluconeogenesis	cytosol	fructose 1,6-bisphosphate 1-phosphatase activity|fructose-2,6-bisphosphate 2-phosphatase activity|metal ion binding			endometrium(1)|large_intestine(3)|lung(5)	9		Acute lymphoblastic leukemia(62;0.136)				TTTGATGGCCGTCAGCATTGA	0.632													15	20					0	0	1	0	0	A	97355890	G	A	97355890	3	1	99	1	0	0	0	0	1	0	0	0	5739	1145	40	1	928	1	FBP2	9	97355890	Missense_Mutation	SNP	G	TCGA-DU-7006-01A-11D-2024-08		97355890	43857541	31	19984											
SEC16A	9919	broad.mit.edu	37	9	139354230	139354230	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chr9:139354230C>G	ENST00000313050.7	-	13	5243	c.5170G>C	c.(5170-5172)Gct>Cct	p.A1724P	SEC16A_ENST00000290037.6_Missense_Mutation_p.A1546P|SEC16A_ENST00000431893.2_Missense_Mutation_p.A1546P|SEC16A_ENST00000371706.3_Missense_Mutation_p.A1546P	NM_014866.1	NP_055681.1	O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	1546					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		CCCATGGTAGCCATCGTCCTG	0.587													5	5					0	0	1	0	0	G	139354230	C	G	139354230	3	3	99	1	0	0	0	0	1	0	0	0	14040	739	26	5	1975	5	SEC16A	9	139354230	Missense_Mutation	SNP	C	TCGA-DU-7006-01A-11D-2024-08	41998340	139354230	1859201	32	19985											
SLC22A25	387601	broad.mit.edu	37	11	62931428	62931429	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chr11:62931428_62931429delAA	ENST00000306494.6	-	9	1510_1511	c.1511_1512delTT	c.(1510-1512)tttfs	p.F504fs	SLC22A10_ENST00000525620.1_Intron|SLC22A10_ENST00000535888.1_Intron	NM_199352.3	NP_955384.3	Q6T423	S22AP_HUMAN	solute carrier family 22, member 25	504					transmembrane transport	integral to membrane				NS(2)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|skin(7)	34						AGAGGATGGCAAAGACTCCATA	0.495													7	90	---	---	---	---						-	62931429	AA	-	62931428	7	5	99	1	0	1	0	1	0	0	0	0	14509	127	5	0	135	0	SLC22A25	11	62931428	Frame_Shift_Del	DEL	AA	TCGA-DU-7006-01A-11D-2024-08		62931428	72075088	33	19986											
MMP20	9313	broad.mit.edu	37	11	102477309	102477309	+	Missense_Mutation	SNP	C	C	T	rs148818720	byFrequency	TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chr11:102477309C>T	ENST00000260228.2	-	6	922	c.910G>A	c.(910-912)Gct>Act	p.A304T	MMP20_ENST00000544938.1_5'UTR	NM_004771.3	NP_004762.2	O60882	MMP20_HUMAN	matrix metallopeptidase 20	304	Hemopexin-like 1.				proteolysis|regulation of enamel mineralization	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|protein binding|zinc ion binding			endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(8;8.95e-05)|all_epithelial(12;0.00227)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Epithelial(9;0.0216)|Lung(13;0.0711)|all cancers(10;0.0889)|LUSC - Lung squamous cell carcinoma(19;0.13)	BRCA - Breast invasive adenocarcinoma(274;0.0161)		ATTGTCACAGCGTCAAAGGAT	0.577													4	33					0	0	1	0	0	T	102477309	C	T	102477309	3	4	99	1	0	0	0	0	1	0	0	0	9707	768	27	1	561	1	MMP20	11	102477309	Missense_Mutation	SNP	C	TCGA-DU-7006-01A-11D-2024-08	39545881	102477309	32529207	34	19987											
ROBO4	54538	broad.mit.edu	37	11	124756934	124756934	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chr11:124756934C>T	ENST00000306534.3	-	15	2859	c.2374G>A	c.(2374-2376)Gtg>Atg	p.V792M	RP11-664I21.5_ENST00000524453.1_RNA|ROBO4_ENST00000533054.1_Missense_Mutation_p.V647M	NM_019055.5	NP_061928.4	Q8WZ75	ROBO4_HUMAN	roundabout, axon guidance receptor, homolog 4 (Drosophila)	792					angiogenesis|cell differentiation	integral to membrane	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		GGGGTCAGCACGCTGTCTTGA	0.592													30	38					0	0	1	0	0	T	124756934	C	T	124756934	3	4	99	1	0	0	0	0	1	0	0	0	13568	536	19	1	665	1	ROBO4	11	124756934	Missense_Mutation	SNP	C	TCGA-DU-7006-01A-11D-2024-08	22279625	124756934	10249582	35	19988											
GLB1L3	112937	broad.mit.edu	37	11	134158762	134158762	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chr11:134158762C>A	ENST00000389887.5	+	7	3203	c.707C>A	c.(706-708)aCa>aAa	p.T236K	GLB1L3_ENST00000431683.2_Missense_Mutation_p.T236K			Q8NCI6	GLBL3_HUMAN	galactosidase, beta 1-like 3	236					carbohydrate metabolic process		cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)	13	all_hematologic(175;0.127)	all_cancers(12;5.52e-23)|all_epithelial(12;2.15e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|all_neural(223;0.0182)|Medulloblastoma(222;0.0208)|Esophageal squamous(93;0.0559)		Epithelial(10;1.3e-11)|all cancers(11;2.07e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000873)|Lung(977;0.222)		AAGGATAAAACATACATGCCG	0.498													3	32					0.004672	0.004672	1	1	0	A	134158762	C	A	134158762	3	1	99	1	0	0	0	0	1	0	0	0	6472	478	17	5	733	5	GLB1L3	11	134158762	Missense_Mutation	SNP	C	TCGA-DU-7006-01A-11D-2024-08	9401828	134158762	847754	36	19989											
PZP	5858	broad.mit.edu	37	12	9304243	9304243	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chr12:9304243C>T	ENST00000261336.2	-	33	4266	c.4238G>A	c.(4237-4239)cGg>cAg	p.R1413Q	PZP_ENST00000381997.2_Missense_Mutation_p.R1199Q	NM_002864.2	NP_002855.2			pregnancy-zone protein											breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						CACTTCTGTCCGGCTCACAGA	0.443													4	40					0	0	1	0	0	T	9304243	C	T	9304243	3	4	99	1	0	0	0	0	1	0	0	0	12921	652	23	1	226	1	PZP	12	9304243	Missense_Mutation	SNP	C	TCGA-DU-7006-01A-11D-2024-08		9304243	124547652	37	19990											
SACS	26278	broad.mit.edu	37	13	23907744	23907744	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chr13:23907744C>T	ENST00000382298.3	-	10	10859	c.10271G>A	c.(10270-10272)gGa>gAa	p.G3424E	SACS_ENST00000402364.1_Missense_Mutation_p.G2674E|SACS_ENST00000382292.3_Missense_Mutation_p.G3424E	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	3424					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		TCCAAATTTTCCAATGCTTAC	0.358													33	81					0	0	1	0	0	T	23907744	C	T	23907744	3	4	99	1	0	0	0	0	1	0	0	0	13856	855	30	2	3472	2	SACS	13	23907744	Missense_Mutation	SNP	C	TCGA-DU-7006-01A-11D-2024-08		23907744	91262134	38	19991											
OR4N2	390429	broad.mit.edu	37	14	20296476	20296476	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chr14:20296476G>A	ENST00000315947.1	+	1	869	c.869G>A	c.(868-870)cGc>cAc	p.R290H	OR4N2_ENST00000568211.1_3'UTR	NM_001004723.1	NP_001004723.1	Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N, member 2	290					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TATACCCTTCGCAACCAGGAA	0.403													19	42					0	0	1	0	0	A	20296476	G	A	20296476	3	1	99	1	0	0	0	0	1	0	0	0	11125	1087	38	1	871	1	OR4N2	14	20296476	Missense_Mutation	SNP	G	TCGA-DU-7006-01A-11D-2024-08		20296476	87053064	39	19992											
RPL10L	140801	broad.mit.edu	37	14	47120456	47120456	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chr14:47120456G>A	ENST00000298283.3	-	1	572	c.484C>T	c.(484-486)Cgc>Tgc	p.R162C		NM_080746.2	NP_542784.1	Q96L21	RL10L_HUMAN	ribosomal protein L10-like	162					spermatogenesis|translation	cytosolic large ribosomal subunit|nucleus	structural constituent of ribosome	p.R162S(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(20)|ovary(1)	27						ATCTTCTGGCGTCCAGGGAAC	0.502													44	82					0	0	1	0	0	A	47120456	G	A	47120456	3	1	99	1	0	0	0	0	1	0	0	0	13608	1145	40	1	164	1	RPL10L	14	47120456	Missense_Mutation	SNP	G	TCGA-DU-7006-01A-11D-2024-08	26823980	47120456	60229084	40	19993											
BMP4	652	broad.mit.edu	37	14	54417301	54417301	+	Missense_Mutation	SNP	G	G	A	rs140590144	byFrequency	TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chr14:54417301G>A	ENST00000245451.4	-	4	1069	c.676C>T	c.(676-678)Cgg>Tgg	p.R226W	BMP4_ENST00000559087.1_Missense_Mutation_p.R226W|BMP4_ENST00000558984.1_Missense_Mutation_p.R226W|BMP4_ENST00000417573.1_Missense_Mutation_p.R226W	NM_001202.3	NP_001193.2	P12644	BMP4_HUMAN	bone morphogenetic protein 4	226			R -> W.		activation of MAPKK activity|blood vessel endothelial cell proliferation involved in sprouting angiogenesis|BMP signaling pathway involved in heart induction|BMP signaling pathway involved in nephric duct formation|branching involved in ureteric bud morphogenesis|bronchus development|bud dilation involved in lung branching|cardiac septum development|cartilage development|endocardial cushion development|epithelial cell proliferation involved in lung morphogenesis|intermediate mesodermal cell differentiation|lung alveolus development|lymphoid progenitor cell differentiation|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesonephros development|negative regulation of branch elongation involved in ureteric bud branching by BMP signaling pathway|negative regulation of branching involved in ureteric bud morphogenesis|negative regulation of cell proliferation involved in heart morphogenesis|negative regulation of glomerular mesangial cell proliferation|negative regulation of glomerulus development|negative regulation of immature T cell proliferation in thymus|negative regulation of MAP kinase activity|negative regulation of metanephric comma-shaped body morphogenesis|negative regulation of metanephric S-shaped body morphogenesis|negative regulation of mitosis|negative regulation of myoblast differentiation|negative regulation of phosphorylation|negative regulation of striated muscle tissue development|negative regulation of thymocyte apoptosis|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cardiac muscle fiber development|positive regulation of cartilage development|positive regulation of collagen biosynthetic process|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of kidney development|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of smooth muscle cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|protein localization to nucleus|pulmonary artery endothelial tube morphogenesis|secondary heart field specification|SMAD protein signal transduction|specification of ureteric bud anterior/posterior symmetry by BMP signaling pathway|steroid hormone mediated signaling pathway	extracellular space|proteinaceous extracellular matrix	BMP receptor binding|chemoattractant activity|cytokine activity|growth factor activity			breast(1)|endometrium(3)|large_intestine(2)|lung(9)|prostate(3)|urinary_tract(1)	19						TGCTTCTCCCGGGTCCAGCGA	0.572													6	118					0	0	1	0	0	A	54417301	G	A	54417301	3	1	99	1	0	0	0	0	1	0	0	0	1461	1115	39	1	554	1	BMP4	14	54417301	Missense_Mutation	SNP	G	TCGA-DU-7006-01A-11D-2024-08	7296845	54417301	52932239	41	19994											
NEK9	91754	broad.mit.edu	37	14	75574067	75574067	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chr14:75574067C>T	ENST00000238616.5	-	11	1464	c.1306G>A	c.(1306-1308)Gat>Aat	p.D436N		NM_033116.4	NP_149107.4	Q8TD19	NEK9_HUMAN	NIMA-related kinase 9	436					cell division|mitosis	mitochondrion|nucleus	ATP binding|metal ion binding|protein kinase binding|protein serine/threonine kinase activity			endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00718)		ACAGTGAAATCATCACCACAT	0.468													30	51					0	0	1	0	0	T	75574067	C	T	75574067	3	4	99	1	0	0	0	0	1	0	0	0	10378	826	29	2	1681	2	NEK9	14	75574067	Missense_Mutation	SNP	C	TCGA-DU-7006-01A-11D-2024-08	21156766	75574067	31775473	42	19995											
NEK9	91754	broad.mit.edu	37	14	75574125	75574125	+	Silent	SNP	C	C	T			TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chr14:75574125C>T	ENST00000238616.5	-	11	1406	c.1248G>A	c.(1246-1248)caG>caA	p.Q416Q		NM_033116.4	NP_149107.4	Q8TD19	NEK9_HUMAN	NIMA-related kinase 9	416					cell division|mitosis	mitochondrion|nucleus	ATP binding|metal ion binding|protein kinase binding|protein serine/threonine kinase activity			endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00718)		CATGCTTTGGCTGTCGATAGG	0.453													13	33					0	0	1	0	0	T	75574125	C	T	75574125	2	4	99	1	0	0	0	0	0	0	0	1	10378	796	28	2		2	NEK9	14	75574125	Silent	SNP	C	TCGA-DU-7006-01A-11D-2024-08	58	75574125	31775415	43	19996											
AK7	122481	broad.mit.edu	37	14	96875258	96875258	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chr14:96875258C>T	ENST00000267584.4	+	4	522	c.478C>T	c.(478-480)Cgc>Tgc	p.R160C	AK7_ENST00000554313.1_3'UTR	NM_152327.3	NP_689540.2	Q96M32	KAD7_HUMAN	adenylate kinase 7	160					cell projection organization	cytosol	adenylate kinase activity|ATP binding|cytidylate kinase activity			breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)		GACTTGGGCGCGCTCCAAAGC	0.473													12	28					0	0	1	0	0	T	96875258	C	T	96875258	3	4	99	1	0	0	0	0	1	0	0	0	441	768	27	1	492	1	AK7	14	96875258	Missense_Mutation	SNP	C	TCGA-DU-7006-01A-11D-2024-08	21301133	96875258	10474282	44	19997											
AHNAK2	113146	broad.mit.edu	37	14	105415522	105415522	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chr14:105415522G>A	ENST00000333244.5	-	7	6385	c.6266C>T	c.(6265-6267)cCc>cTc	p.P2089L	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2089						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GTCCACCTGGGGGCCCTTGAG	0.617													70	158					0	0	1	0	0	A	105415522	G	A	105415522	3	1	99	1	0	0	0	0	1	0	0	0	412	1232	43	2	11125	2	AHNAK2	14	105415522	Missense_Mutation	SNP	G	TCGA-DU-7006-01A-11D-2024-08	8540264	105415522	1934018	45	19998											
FBN1	2200	broad.mit.edu	37	15	48902974	48902974	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chr15:48902974C>T	ENST00000316623.5	-	4	752	c.297G>A	c.(295-297)atG>atA	p.M99I		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	99	EGF-like 1.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		GGCAAGTGCACATATTTGGCC	0.428													13	31					0	0	1	0	0	T	48902974	C	T	48902974	3	4	99	1	0	0	0	0	1	0	0	0	5735	478	17	2	8570	2	FBN1	15	48902974	Missense_Mutation	SNP	C	TCGA-DU-7006-01A-11D-2024-08		48902974	53628418	46	19999											
ALPK3	57538	broad.mit.edu	37	15	85383197	85383197	+	Silent	SNP	G	G	A			TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chr15:85383197G>A	ENST00000258888.5	+	5	1460	c.1293G>A	c.(1291-1293)ggG>ggA	p.G431G		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	431					heart development	nucleus	ATP binding|protein serine/threonine kinase activity	p.G431G(2)		NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			GATTGAGCGGGGCTCAAGCGC	0.672													12	17					0	0	1	0	0	A	85383197	G	A	85383197	2	1	99	1	0	0	0	0	0	0	0	1	542	1219	43	2		2	ALPK3	15	85383197	Silent	SNP	G	TCGA-DU-7006-01A-11D-2024-08	36480223	85383197	17148195	47	20000											
ST8SIA2	8128	broad.mit.edu	37	15	92973307	92973307	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chr15:92973307T>G	ENST00000268164.3	+	2	364	c.127T>G	c.(127-129)Tca>Gca	p.S43A	ST8SIA2_ENST00000539113.1_Intron	NM_006011.3	NP_006002.1	Q92186	SIA8B_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2	43					axon guidance|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			endometrium(2)|large_intestine(6)|lung(9)|skin(2)|urinary_tract(1)	20	Lung NSC(78;0.0893)|all_lung(78;0.125)		BRCA - Breast invasive adenocarcinoma(143;0.0355)|OV - Ovarian serous cystadenocarcinoma(32;0.203)			TACAATCAGATCAGCTGTGAA	0.388													21	29					0	0	1	0	0	G	92973307	T	G	92973307	3	3	99	1	0	0	0	0	1	0	0	0	15288	1435	50	4	133	4	ST8SIA2	15	92973307	Missense_Mutation	SNP	T	TCGA-DU-7006-01A-11D-2024-08	7590110	92973307	9558085	48	20001											
PKD1L2	114780	broad.mit.edu	37	16	81157276	81157276	+	RNA	SNP	G	G	A			TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chr16:81157276G>A	ENST00000533478.1	-	0	4518				PKD1L2_ENST00000534142.1_RNA|PKD1L2_ENST00000525539.1_RNA	NM_001278425.1	NP_001265354.1	Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						GGTCTCTAGCGTCAGCGTGAC	0.592													31	80					0	0	1	0	0	A	81157276	G	A	81157276	1	1	99	0	1	0	0	0	0	0	0	0	12013	1145	40	1		1	PKD1L2	16	81157276	RNA	SNP	G	TCGA-DU-7006-01A-11D-2024-08		81157276	9197477	49	20002											
KCNJ12	3768	broad.mit.edu	37	17	21319552	21319552	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chr17:21319552G>A	ENST00000583088.1	+	3	1793	c.898G>A	c.(898-900)Gaa>Aaa	p.E300K	KCNJ12_ENST00000331718.5_Missense_Mutation_p.E300K	NM_021012.4	NP_066292.2			potassium inwardly-rectifying channel, subfamily J, member 12											NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)		GGTCATCCTGGAAGGCATGGT	0.617										Prostate(3;0.18)			8	89					0	0	1	0	0	A	21319552	G	A	21319552	3	1	99	1	0	0	0	0	1	0	0	0	8090	1175	41	2	900	2	KCNJ12	17	21319552	Missense_Mutation	SNP	G	TCGA-DU-7006-01A-11D-2024-08		21319552	59875658	50	20003											
NF1	4763	broad.mit.edu	37	17	29654857	29654857	+	Splice_Site	SNP	G	G	A			TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chr17:29654857G>A	ENST00000358273.4	+	38	5992	c.5609G>A	c.(5608-5610)cGg>cAg	p.R1870Q	NF1_ENST00000581113.2_3'UTR|NF1_ENST00000356175.3_Splice_Site_p.R1849Q	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1870					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(3)|p.S1871fs*13(1)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		CCGAGTTTACGGTAGGTTTTT	0.378			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			11	43					0	0	1	0	0	A	29654857	G	A	29654857	5	1	99	1	0	0	0	0	0	0	1	0	10403	1130	39	1	5820	1	NF1	17	29654857	Splice_Site	SNP	G	TCGA-DU-7006-01A-11D-2024-08	8335305	29654857	51540353	51	20004											
CLTC	1213	broad.mit.edu	37	17	57746287	57746287	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chr17:57746287A>C	ENST00000269122.3	+	14	2552	c.2278A>C	c.(2278-2280)Aag>Cag	p.K760Q	CLTC_ENST00000579456.1_Intron|CLTC_ENST00000393043.1_Missense_Mutation_p.K760Q	NM_004859.3	NP_004850.1	Q00610	CLH1_HUMAN	clathrin, heavy chain (Hc)	760	Heavy chain arm.|Proximal segment.				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|mitosis|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport|receptor internalization|transferrin transport	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol|melanosome|spindle	protein binding|structural molecule activity		CLTC/ALK(44)|CLTC/TFE3(2)	breast(2)|large_intestine(6)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					TGAGCGAGTCAAGAATTTTCT	0.373			T	"ALK, TFE3"	"ALCL, renal "								5	72					0	0	1	0	0	C	57746287	A	C	57746287	3	2	99	1	0	0	0	0	1	0	0	0	3589	131	5	5	2332	5	CLTC	17	57746287	Missense_Mutation	SNP	A	TCGA-DU-7006-01A-11D-2024-08	28091430	57746287	23448923	52	20005											
GATA6	2627	broad.mit.edu	37	18	19751547	19751547	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chr18:19751547T>A	ENST00000269216.3	+	2	719	c.442T>A	c.(442-444)Tac>Aac	p.Y148N	GATA6_ENST00000581694.1_Missense_Mutation_p.Y148N	NM_005257.4	NP_005248.2	Q92908	GATA6_HUMAN	GATA binding protein 6	148					blood coagulation|cardiac vascular smooth muscle cell differentiation|cellular response to hypoxia|intestinal epithelial cell differentiation|male gonad development|negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor-beta1 production|negative regulation of transforming growth factor-beta2 production|outflow tract septum morphogenesis|positive regulation of angiogenesis|positive regulation of cell cycle arrest|positive regulation of transcription from RNA polymerase II promoter|response to drug|response to growth factor stimulus		protein binding|protein kinase binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	18	all_cancers(21;0.00271)|all_epithelial(16;7.31e-05)|Ovarian(2;0.116)|Lung NSC(20;0.123)|all_lung(20;0.246)		STAD - Stomach adenocarcinoma(5;0.106)			GGAGGAGATGTACCAGACCCT	0.736													14	24					0	0	1	0	0	A	19751547	T	A	19751547	3	1	99	1	0	0	0	0	1	0	0	0	6298	1638	57	5	444	5	GATA6	18	19751547	Missense_Mutation	SNP	T	TCGA-DU-7006-01A-11D-2024-08		19751547	58325701	53	20006											
ATCAY	85300	broad.mit.edu	37	19	3907776	3907776	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chr19:3907776G>A	ENST00000450849.2	+	5	870	c.403G>A	c.(403-405)Gcg>Acg	p.A135T	ATCAY_ENST00000398448.3_Missense_Mutation_p.A141T|ATCAY_ENST00000301260.6_Missense_Mutation_p.A135T|ATCAY_ENST00000600960.1_Missense_Mutation_p.A135T	NM_033064.4	NP_149053.1	Q86WG3	ATCAY_HUMAN	ataxia, cerebellar, Cayman type	135					transport		protein binding			breast(1)|endometrium(2)|kidney(2)|lung(2)	7		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00485)|STAD - Stomach adenocarcinoma(1328;0.183)		CGGGGACAGCGCGGATCTATT	0.657													5	51					0	0	1	0	0	A	3907776	G	A	3907776	3	1	99	1	0	0	0	0	1	0	0	0	1076	1087	38	1	417	1	ATCAY	19	3907776	Missense_Mutation	SNP	G	TCGA-DU-7006-01A-11D-2024-08		3907776	55221207	54	20007											
FBN3	84467	broad.mit.edu	37	19	8152978	8152978	+	Silent	SNP	G	G	A			TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chr19:8152978G>A	ENST00000600128.1	-	52	6876	c.6462C>T	c.(6460-6462)gaC>gaT	p.D2154D	FBN3_ENST00000601739.1_Silent_p.D2154D|FBN3_ENST00000270509.2_Silent_p.D2154D			Q75N90	FBN3_HUMAN	fibrillin 3	2154	EGF-like 34; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						GCTCAAAGCCGTCAGCACAGG	0.617													29	52					0	0	1	0	0	A	8152978	G	A	8152978	2	1	99	1	0	0	0	0	0	0	0	1	5737	1136	40	1		1	FBN3	19	8152978	Silent	SNP	G	TCGA-DU-7006-01A-11D-2024-08	4245202	8152978	50976005	55	20008											
ZNF491	126069	broad.mit.edu	37	19	11917410	11917410	+	Silent	SNP	G	G	A			TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chr19:11917410G>A	ENST00000323169.5	+	3	973	c.642G>A	c.(640-642)ccG>ccA	p.P214P	ZNF491_ENST00000492230.1_Intron	NM_152356.3	NP_689569.2	Q8N8L2	ZN491_HUMAN	zinc finger protein 491	214					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.P214P(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(14)|lung(6)|ovary(2)|skin(1)	26						GAGAGAAGCCGTACAAATGTA	0.423													3	39					0	0	1	0	0	A	11917410	G	A	11917410	2	1	99	1	0	0	0	0	0	0	0	1	17999	1132	40	1		1	ZNF491	19	11917410	Silent	SNP	G	TCGA-DU-7006-01A-11D-2024-08	3764432	11917410	47211573	56	20009											
PSG2	5670	broad.mit.edu	37	19	43585278	43585278	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chr19:43585278A>T	ENST00000406487.1	-	2	283	c.185T>A	c.(184-186)cTt>cAt	p.L62H		NM_031246.3	NP_112536.2	P11465	PSG2_HUMAN	pregnancy specific beta-1-glycoprotein 2	62	Ig-like V-type.				cell migration|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2)	49		Prostate(69;0.00682)				GTAGCCAGTAAGATTCTGGGG	0.453													64	158					0	0	1	0	0	T	43585278	A	T	43585278	3	4	99	1	0	0	0	0	1	0	0	0	12704	72	3	5	838	5	PSG2	19	43585278	Missense_Mutation	SNP	A	TCGA-DU-7006-01A-11D-2024-08	31667868	43585278	15543705	57	20010											
PRR12	57479	broad.mit.edu	37	19	50098329	50098329	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chr19:50098329A>G	ENST00000418929.2	+	4	749	c.737A>G	c.(736-738)aAc>aGc	p.N246S		NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN	proline rich 12	32	Pro-rich.						DNA binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		ACTCAGTTCAACCTGCTGGCT	0.697													5	14					0	0	1	0	0	G	50098329	A	G	50098329	3	3	99	1	0	0	0	0	1	0	0	0	12636	43	2	3	751	3	PRR12	19	50098329	Missense_Mutation	SNP	A	TCGA-DU-7006-01A-11D-2024-08	6513051	50098329	9030654	58	20011											
C20orf194	25943	broad.mit.edu	37	20	3236735	3236735	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chr20:3236735G>A	ENST00000252032.9	-	34	3245	c.3178C>T	c.(3178-3180)Cag>Tag	p.Q1060*	C20orf194_ENST00000453730.2_3'UTR	NM_001009984.2	NP_001009984.1	Q5TEA3	CT194_HUMAN	chromosome 20 open reading frame 194	1060										NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	39						CACTCCTGCTGCCCGCTGCTG	0.557													9	70					0	0	1	0	0	A	3236735	G	A	3236735	4	1	99	1	0	0	0	0	0	1	0	0	2113	1328	46	2	371	2	C20orf194	20	3236735	Nonsense_Mutation	SNP	G	TCGA-DU-7006-01A-11D-2024-08		3236735	59788785	59	20012											
SEMG2	6407	broad.mit.edu	37	20	43851148	43851148	+	Missense_Mutation	SNP	G	G	A	rs145586123		TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chr20:43851148G>A	ENST00000372769.3	+	2	965	c.875G>A	c.(874-876)cGt>cAt	p.R292H		NM_003008.2	NP_002999.1	Q02383	SEMG2_HUMAN	semenogelin II	292	4 X 60 AA tandem repeats, type I.|Repeat-rich region.				sexual reproduction	extracellular space|stored secretory granule	structural molecule activity	p.R292H(1)|p.R292L(1)		autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Myeloproliferative disorder(115;0.0122)				CCGTCTTCACGTACAGAAGAA	0.398													30	59					0	0	1	0	0	A	43851148	G	A	43851148	3	1	99	1	0	0	0	0	1	0	0	0	14099	1145	40	1	881	1	SEMG2	20	43851148	Missense_Mutation	SNP	G	TCGA-DU-7006-01A-11D-2024-08	40614413	43851148	19174372	60	20013											
MCM3AP	8888	broad.mit.edu	37	21	47700424	47700424	+	Silent	SNP	G	G	A			TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chr21:47700424G>A	ENST00000397708.1	-	4	1763	c.1509C>T	c.(1507-1509)caC>caT	p.H503H	MCM3AP_ENST00000291688.1_Silent_p.H503H			O60318	MCM3A_HUMAN	minichromosome maintenance complex component 3 associated protein	503					DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					TTTTCTTCCTGTGCCAAAAGA	0.363													29	45					0	0	1	0	0	A	47700424	G	A	47700424	2	1	99	1	0	0	0	0	0	0	0	1	9438	1368	48	2		2	MCM3AP	21	47700424	Silent	SNP	G	TCGA-DU-7006-01A-11D-2024-08		47700424	429471	61	20014											
TMPRSS6	164656	broad.mit.edu	37	22	37462868	37462868	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chr22:37462868G>A	ENST00000381792.2	-	18	2454	c.2314C>T	c.(2314-2316)Cag>Tag	p.Q772*	TMPRSS6_ENST00000406856.1_Nonsense_Mutation_p.Q772*|TMPRSS6_ENST00000346753.3_Nonsense_Mutation_p.Q759*|TMPRSS6_ENST00000406725.1_Nonsense_Mutation_p.Q750*			Q8IU80	TMPS6_HUMAN	transmembrane protease, serine 6	759	Peptidase S1.				angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis	integral to membrane|intracellular|plasma membrane	serine-type endopeptidase activity			breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						GGACTCACCTGACAGGCATCC	0.617													12	38					0	0	1	0	0	A	37462868	G	A	37462868	4	1	99	1	0	0	0	0	0	1	0	0	16311	1299	45	2	168	2	TMPRSS6	22	37462868	Nonsense_Mutation	SNP	G	TCGA-DU-7006-01A-11D-2024-08		37462868	13841698	62	20015											
SBF1	6305	broad.mit.edu	37	22	50900448	50900448	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chr22:50900448A>T	ENST00000380817.3	-	20	2680	c.2497T>A	c.(2497-2499)Ttt>Att	p.F833I	SBF1_ENST00000390679.3_Missense_Mutation_p.F833I|SBF1_ENST00000348911.6_Missense_Mutation_p.F834I	NM_002972.2	NP_002963.2	O95248	MTMR5_HUMAN	SET binding factor 1						protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		TTGTCCACAAAGCGGTTGATG	0.622													42	80					0	0	1	0	0	T	50900448	A	T	50900448	3	4	99	1	0	0	0	0	1	0	0	0	13911	72	3	5	3272	5	SBF1	22	50900448	Missense_Mutation	SNP	A	TCGA-DU-7006-01A-11D-2024-08	13437580	50900448	404118	63	20016											
SRPX	8406	broad.mit.edu	37	X	38079976	38079978	+	In_Frame_Del	DEL	GCA	GCA	-	rs72445954		TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chrX:38079976_38079978delGCA	ENST00000378533.3	-	1	174_176	c.68_70delTGC	c.(67-72)ctgcgc>cgc	p.L23del	SRPX_ENST00000343800.6_Intron|SRPX_ENST00000538295.1_In_Frame_Del_p.L23del|SRPX_ENST00000544439.1_In_Frame_Del_p.L23del|TM4SF2_ENST00000465127.1_Intron|SRPX_ENST00000432886.2_In_Frame_Del_p.L23del	NM_006307.4	NP_006298.1	P78539	SRPX_HUMAN	sushi-repeat containing protein, X-linked	23			Missing.		cell adhesion	cell surface|membrane		p.L23delL(2)		autonomic_ganglia(1)|breast(2)|endometrium(5)|large_intestine(5)|lung(10)|prostate(2)	25						GGCGGGACGCgcagcagcagcag	0.729											OREG0019726	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	11	---	---	---	---						-	38079978	GCA	-	38079976	7	5	99	1	0	1	0	1	0	0	0	0	15220	1087	38	0	1364	0	SRPX	23	38079976	In_Frame_Del	DEL	GCA	TCGA-DU-7006-01A-11D-2024-08		38079976	117190584	64	20017											
TBC1D25	4943	broad.mit.edu	37	X	48418954	48418954	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chrX:48418954C>G	ENST00000376771.4	+	6	1999	c.1658C>G	c.(1657-1659)tCc>tGc	p.S553C	TBC1D25_ENST00000537536.1_Missense_Mutation_p.S299C	NM_002536.2	NP_002527.1	Q3MII6	TBC25_HUMAN	TBC1 domain family, member 25	553						intracellular	Rab GTPase activator activity			large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4						CTGCTCTCCTCCTTTTCCCAC	0.582													68	101					0	0	1	0	0	G	48418954	C	G	48418954	3	3	99	1	0	0	0	0	1	0	0	0	15672	855	30	5	1680	5	TBC1D25	23	48418954	Missense_Mutation	SNP	C	TCGA-DU-7006-01A-11D-2024-08	10338978	48418954	106851606	65	20018											
OGT	8473	broad.mit.edu	37	X	70784541	70784541	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chrX:70784541G>T	ENST00000373719.3	+	19	2744	c.2527G>T	c.(2527-2529)Gta>Tta	p.V843L	OGT_ENST00000373701.3_Missense_Mutation_p.V833L	NM_181672.2|NM_181673.2	NP_858058.1|NP_858059.1	O15294	OGT1_HUMAN	O-linked N-acetylglucosamine (GlcNAc) transferase	843					cellular response to retinoic acid|positive regulation of granulocyte differentiation|positive regulation of histone H3-K4 methylation|positive regulation of proteolysis|protein O-linked glycosylation|signal transduction	cytosol|MLL5-L complex	enzyme activator activity|protein binding|protein N-acetylglucosaminyltransferase activity	p.V833I(1)|p.V843I(1)		breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Renal(35;0.156)					AGATGCCATCGTATACTGTAA	0.403													21	50					4.96729e-08	5.23151e-08	1	1	0	T	70784541	G	T	70784541	3	4	99	1	0	0	0	0	1	0	0	0	10895	1145	40	5	2601	5	OGT	23	70784541	Missense_Mutation	SNP	G	TCGA-DU-7006-01A-11D-2024-08	22365587	70784541	84486019	66	20019											
FAM199X	139231	broad.mit.edu	37	X	103411604	103411604	+	Silent	SNP	C	C	T			TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chrX:103411604C>T	ENST00000493442.1	+	1	304	c.138C>T	c.(136-138)ttC>ttT	p.F46F		NM_207318.3	NP_997201.1	Q6PEV8	F199X_HUMAN	family with sequence similarity 199, X-linked	46								p.F46F(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(1)	11						TCAGCGACTTCGGCTGCCAGC	0.657													4	37					0	0	1	0	0	T	103411604	C	T	103411604	2	4	99	1	0	0	0	0	0	0	0	1	5562	883	31	1		1	FAM199X	23	103411604	Silent	SNP	C	TCGA-DU-7006-01A-11D-2024-08	32627063	103411604	51858956	67	20020											
THOC2	57187	broad.mit.edu	37	X	122747329	122747329	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chrX:122747329G>C	ENST00000245838.8	-	36	4629	c.4598C>G	c.(4597-4599)tCa>tGa	p.S1533*	THOC2_ENST00000497887.1_5'UTR|THOC2_ENST00000491737.1_Nonsense_Mutation_p.S1418*|THOC2_ENST00000355725.4_Nonsense_Mutation_p.S1533*	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2	1533	Lys-rich.				intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding			breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						TGAAGATTTTGACTTATTTTT	0.323													35	65					0	0	1	0	0	C	122747329	G	C	122747329	4	2	99	1	0	0	0	0	0	1	0	0	15925	1294	45	5	195	5	THOC2	23	122747329	Nonsense_Mutation	SNP	G	TCGA-DU-7006-01A-11D-2024-08	19335725	122747329	32523231	68	20021											
GPC3	2719	broad.mit.edu	37	X	133087087	133087087	+	Silent	SNP	C	C	T			TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chrX:133087087C>T	ENST00000370818.3	-	2	772	c.327G>A	c.(325-327)gcG>gcA	p.A109A	GPC3_ENST00000543339.1_Intron|GPC3_ENST00000394299.2_Silent_p.A109A	NM_001164618.1|NM_004484.3	NP_001158090.1|NP_004475.1	P51654	GPC3_HUMAN	glypican 3	109						extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding|peptidyl-dipeptidase inhibitor activity			breast(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|prostate(1)|skin(2)	36	Acute lymphoblastic leukemia(192;0.000127)					CTTGGAAAACCGCAGCATTCT	0.378			"T, D, Mis, N, F, S"			Wilms tumour			Simpson-Golabi-Behmel syndrome				70	154					0	0	1	0	0	T	133087087	C	T	133087087	2	4	99	1	0	0	0	0	0	0	0	1	6639	639	23	1		1	GPC3	23	133087087	Silent	SNP	C	TCGA-DU-7006-01A-11D-2024-08	10339758	133087087	22183473	69	20022											
MAGEC1	9947	broad.mit.edu	37	X	140996473	140996473	+	Missense_Mutation	SNP	G	G	A	rs147835720		TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chrX:140996473G>A	ENST00000285879.4	+	4	3569	c.3283G>A	c.(3283-3285)Gtc>Atc	p.V1095I	MAGEC1_ENST00000406005.2_Missense_Mutation_p.V162I	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	1095	MAGE.						protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					AAAGAATACCGTCCCTATTAC	0.453										HNSCC(15;0.026)			10	198					0	0	1	0	0	A	140996473	G	A	140996473	3	1	99	1	0	0	0	0	1	0	0	0	9230	1145	40	1	3289	1	MAGEC1	23	140996473	Missense_Mutation	SNP	G	TCGA-DU-7006-01A-11D-2024-08	7909386	140996473	14274087	70	20023											
BSDC1	55108	broad.mit.edu	37	1	32842101	32842101	+	Silent	SNP	G	G	T			TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr1:32842101G>T	ENST00000341071.7	-	9	980	c.969C>A	c.(967-969)tcC>tcA	p.S323S	BSDC1_ENST00000526031.1_Silent_p.S211S|BSDC1_ENST00000419121.2_Silent_p.S250S|BSDC1_ENST00000455895.2_Silent_p.S306S|BSDC1_ENST00000413080.1_Silent_p.S245S|BSDC1_ENST00000446293.2_Silent_p.S323S|BSDC1_ENST00000449308.1_Silent_p.S306S			Q9NW68	BSDC1_HUMAN	BSD domain containing 1	306							protein binding			breast(1)|central_nervous_system(2)|kidney(1)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	17		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				GCAGCTTTTGGGACAGGTCCT	0.597													41	58					1.04594e-18	1.13029e-18	1	1	0	T	32842101	G	T	32842101	2	4	100	1	0	0	0	0	0	0	0	1	1530	1219	43	5		5	BSDC1	1	32842101	Silent	SNP	G	TCGA-DU-7007-01A-11D-2024-08		32842101	216408520	1	20024											
OLFM3	118427	broad.mit.edu	37	1	102290602	102290602	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr1:102290602C>T	ENST00000370103.4	-	4	785	c.572G>A	c.(571-573)cGt>cAt	p.R191H	OLFM3_ENST00000536598.1_Missense_Mutation_p.R116H|OLFM3_ENST00000338858.5_Missense_Mutation_p.R211H|OLFM3_ENST00000462354.1_5'UTR|OLFM3_ENST00000359814.3_Missense_Mutation_p.R211H	NM_058170.2	NP_477518.2	Q96PB7	NOE3_HUMAN	olfactomedin 3	211						extracellular region				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(24)|ovary(3)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	43		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)		CATGCAGTCACGAAGTCTTGT	0.373													7	40					0	0	1	0	0	T	102290602	C	T	102290602	3	4	100	1	0	0	0	0	1	0	0	0	10902	536	19	1	816	1	OLFM3	1	102290602	Missense_Mutation	SNP	C	TCGA-DU-7007-01A-11D-2024-08	69448501	102290602	146960019	2	20025											
TTN	7273	broad.mit.edu	37	2	179613099	179613099	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr2:179613099A>C	ENST00000360870.5	-	46	14250	c.14028T>G	c.(14026-14028)atT>atG	p.I4676M	TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590773.1_RNA	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	791	Ig-like 27.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GACTGGAAGAAATTTCTTGAC	0.333													21	105					0	0	1	0	0	C	179613099	A	C	179613099	3	2	100	1	0	0	0	0	1	0	0	0	16797	10	1	5	96269	5	TTN	2	179613099	Missense_Mutation	SNP	A	TCGA-DU-7007-01A-11D-2024-08		179613099	63586274	3	20026											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	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	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								26	37					0	0	1	0	0	T	209113112	C	T	209113112	3	4	100	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-DU-7007-01A-11D-2024-08	29500013	209113112	34086261	4	20027											
CNTN3	5067	broad.mit.edu	37	3	74419100	74419100	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr3:74419100G>C	ENST00000263665.6	-	6	728	c.701C>G	c.(700-702)cCa>cGa	p.P234R		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	234	Ig-like C2-type 3.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		AAGAGTTTCTGGAAACTGAAC	0.333													12	59					0	0	1	0	0	C	74419100	G	C	74419100	3	2	100	1	0	0	0	0	1	0	0	0	3665	1348	47	5	2453	5	CNTN3	3	74419100	Missense_Mutation	SNP	G	TCGA-DU-7007-01A-11D-2024-08		74419100	123603330	5	20028											
STX19	415117	broad.mit.edu	37	3	93733522	93733522	+	Silent	SNP	A	A	G			TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr3:93733522A>G	ENST00000315099.2	-	2	848	c.592T>C	c.(592-594)Tta>Cta	p.L198L	ARL13B_ENST00000539730.1_Intron|ARL13B_ENST00000471138.1_Intron|ARL13B_ENST00000535334.1_Intron|ARL13B_ENST00000486562.1_Intron|ARL13B_ENST00000303097.7_Intron|ARL13B_ENST00000394222.3_Intron	NM_001001850.2	NP_001001850.1	Q8N4C7	STX19_HUMAN	syntaxin 19	198					intracellular protein transport|vesicle-mediated transport	membrane	SNAP receptor activity			kidney(2)|large_intestine(2)|lung(4)|prostate(1)	9						TCTGTAAGTAAGCTTTCATTA	0.328													11	66					0	0	1	0	0	G	93733522	A	G	93733522	2	3	100	1	0	0	0	0	0	0	0	1	15398	69	3	3		3	STX19	3	93733522	Silent	SNP	A	TCGA-DU-7007-01A-11D-2024-08	19314422	93733522	104288908	6	20029											
PLCH1	23007	broad.mit.edu	37	3	155198970	155198970	+	Silent	SNP	G	G	A			TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr3:155198970G>A	ENST00000460012.1	-	23	5112	c.4755C>T	c.(4753-4755)acC>acT	p.T1585T	PLCH1_ENST00000447496.2_3'UTR|PLCH1_ENST00000334686.6_Silent_p.T1585T|PLCH1_ENST00000340059.7_Silent_p.T1623T|PLCH1_ENST00000414191.1_Silent_p.T1585T|PLCH1_ENST00000494598.1_Intron			Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	1623					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			TCACTGCAGGGGTGGGTGCTG	0.577													10	62					0	0	1	0	0	A	155198970	G	A	155198970	2	1	100	1	0	0	0	0	0	0	0	1	12085	1219	43	2		2	PLCH1	3	155198970	Silent	SNP	G	TCGA-DU-7007-01A-11D-2024-08	61465448	155198970	42823460	7	20030											
ZBBX	79740	broad.mit.edu	37	3	166960403	166960403	+	Silent	SNP	G	G	T			TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr3:166960403G>T	ENST00000392766.2	-	20	2506	c.2166C>A	c.(2164-2166)acC>acA	p.T722T	ZBBX_ENST00000392767.2_Silent_p.T722T|ZBBX_ENST00000392764.1_Silent_p.T693T|ZBBX_ENST00000307529.5_Silent_p.T761T|ZBBX_ENST00000455345.2_Silent_p.T761T	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	722						intracellular	zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						ACTCTTCTGAGGTTAAGCTGT	0.368													7	19					5.4927e-09	5.84145e-09	1	1	0	T	166960403	G	T	166960403	2	4	100	1	0	0	0	0	0	0	0	1	17576	987	35	4		4	ZBBX	3	166960403	Silent	SNP	G	TCGA-DU-7007-01A-11D-2024-08	11761433	166960403	31062027	8	20031											
ZNF595	152687	broad.mit.edu	37	4	59959	59959	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr4:59959A>G	ENST00000509152.2	+	3	324	c.139A>G	c.(139-141)Atc>Gtc	p.I47V	ZNF595_ENST00000339368.6_3'UTR|ZNF595_ENST00000526473.2_Missense_Mutation_p.I47V					zinc finger protein 595											endometrium(5)|kidney(1)|large_intestine(1)|lung(11)|prostate(2)	20		all_cancers(4;0.0738)|all_epithelial(65;0.139)		Lung(54;0.0654)|Epithelial(2;0.0921)|all cancers(2;0.146)|LUSC - Lung squamous cell carcinoma(95;0.173)		AGGTTTTGTGATCTCTAACCC	0.393													6	87					0	0	1	0	0	G	59959	A	G	59959	3	3	100	1	0	0	0	0	1	0	0	0	18082	333	12	3	149	3	ZNF595	4	59959	Missense_Mutation	SNP	A	TCGA-DU-7007-01A-11D-2024-08		59959	191094317	9	20032											
CXXC4	80319	broad.mit.edu	37	4	105412082	105412082	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr4:105412082C>T	ENST00000394767.2	-	2	1328	c.878G>A	c.(877-879)gGg>gAg	p.G293E	CXXC4_ENST00000426831.1_Missense_Mutation_p.G124E|CXXC4_ENST00000466963.1_Intron|AC093628.1_ENST00000606234.1_RNA	NM_025212.2	NP_079488.2	Q9H2H0	CXXC4_HUMAN	CXXC finger protein 4	124					negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway|zygotic specification of dorsal/ventral axis		DNA binding|PDZ domain binding|zinc ion binding			kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11				OV - Ovarian serous cystadenocarcinoma(123;3.05e-08)		GCCAGCTCCCCCTGAGGAGGA	0.602													13	60					0	0	1	0	0	T	105412082	C	T	105412082	3	4	100	1	0	0	0	0	1	0	0	0	4121	623	22	2	233	2	CXXC4	4	105412082	Missense_Mutation	SNP	C	TCGA-DU-7007-01A-11D-2024-08	105352123	105412082	85742194	10	20033											
SKP2	6502	broad.mit.edu	37	5	36152899	36152899	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr5:36152899T>A	ENST00000274255.6	+	2	231	c.35T>A	c.(34-36)cTg>cAg	p.L12Q	SKP2_ENST00000508514.1_Missense_Mutation_p.L12Q|SKP2_ENST00000546211.1_5'UTR|SKP2_ENST00000274254.5_Missense_Mutation_p.L12Q	NM_005983.3	NP_005974.2	Q13309	SKP2_HUMAN	S-phase kinase-associated protein 2, E3 ubiquitin protein ligase	12					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|G1/S transition of mitotic cell cycle|S phase of mitotic cell cycle	nucleoplasm|SCF ubiquitin ligase complex	protein binding			breast(1)|central_nervous_system(2)|ovary(1)	4	all_lung(31;5.63e-05)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			ATTCCAGACCTGAGTAGCAAC	0.517													15	43					0	0	1	0	0	A	36152899	T	A	36152899	3	1	100	1	0	0	0	0	1	0	0	0	14417	1580	55	5	41	5	SKP2	5	36152899	Missense_Mutation	SNP	T	TCGA-DU-7007-01A-11D-2024-08		36152899	144762361	11	20034											
GABRA6	2559	broad.mit.edu	37	5	161118969	161118969	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr5:161118969G>A	ENST00000523217.1	+	8	1061	c.819G>A	c.(817-819)atG>atA	p.M273I	GABRA6_ENST00000274545.5_Missense_Mutation_p.M283I	NM_000811.2	NP_000802.2	Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	283					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TTTTAACTATGACCACTTTGA	0.403										TCGA Ovarian(5;0.080)			10	74					0	0	1	0	0	A	161118969	G	A	161118969	3	1	100	1	0	0	0	0	1	0	0	0	6200	1290	45	2	879	2	GABRA6	5	161118969	Missense_Mutation	SNP	G	TCGA-DU-7007-01A-11D-2024-08	124966070	161118969	19796291	12	20035											
ROS1	6098	broad.mit.edu	37	6	117746774	117746774	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr6:117746774delT	ENST00000368508.3	-	1	244	c.46delA	c.(46-48)actfs	p.T16fs	GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Frame_Shift_Del_p.T16fs	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	16					transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		CAGCCAAGAGTTGCAAAATTG	0.378			T	"GOPC, SDC4, SLC34A2, EZR, LRIG3"	"glioblastoma, NSCLC"								60	91	---	---	---	---						-	117746774	T	-	117746774	7	5	100	1	0	1	0	1	0	0	0	0	13583	1725	60	0	7169	0	ROS1	6	117746774	Frame_Shift_Del	DEL	T	TCGA-DU-7007-01A-11D-2024-08		117746774	53368293	13	20036											
ZP3	7784	broad.mit.edu	37	7	76054391	76054391	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr7:76054391C>T	ENST00000394857.3	+	1	168	c.110C>T	c.(109-111)aCg>aTg	p.T37M	ZP3_ENST00000336517.4_5'UTR	NM_001110354.1	NP_001103824.1	P21754	ZP3_HUMAN	zona pellucida glycoprotein 3 (sperm receptor)	37					binding of sperm to zona pellucida|blastocyst formation|egg coat formation|humoral immune response mediated by circulating immunoglobulin|intracellular protein transport|negative regulation of binding of sperm to zona pellucida|negative regulation of transcription, DNA-dependent|oocyte development|phosphatidylinositol-mediated signaling|positive regulation of acrosomal vesicle exocytosis|positive regulation of acrosome reaction|positive regulation of antral ovarian follicle growth|positive regulation of calcium ion import|positive regulation of calcium ion transport via store-operated calcium channel activity|positive regulation of humoral immune response|positive regulation of interferon-gamma production|positive regulation of interleukin-4 production|positive regulation of leukocyte migration|positive regulation of ovarian follicle development|positive regulation of phosphatidylinositol biosynthetic process|positive regulation of protein kinase activity|positive regulation of protein kinase B signaling cascade|positive regulation of T cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of type IV hypersensitivity|protein kinase C signaling cascade	endoplasmic reticulum|extracellular space|Golgi apparatus|integral to membrane|multivesicular body|outer acrosomal membrane|perinuclear region of cytoplasm|plasma membrane|proteinaceous extracellular matrix	acrosin binding|manganese ion transmembrane transporter activity|receptor activity|sugar binding			endometrium(1)|large_intestine(3)|lung(2)|skin(1)	7						CATCCTGAGACGTCCGTACAG	0.587													6	14					0	0	1	0	0	T	76054391	C	T	76054391	3	4	100	1	0	0	0	0	1	0	0	0	18259	536	19	1	112	1	ZP3	7	76054391	Missense_Mutation	SNP	C	TCGA-DU-7007-01A-11D-2024-08		76054391	83084272	14	20037											
DLX5	1749	broad.mit.edu	37	7	96651603	96651603	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr7:96651603G>C	ENST00000222598.4	-	2	907	c.434C>G	c.(433-435)tCc>tGc	p.S145C	DLX5_ENST00000493764.1_Intron|DLX5_ENST00000486603.2_Missense_Mutation_p.S145C	NM_005221.5	NP_005212.1	P56178	DLX5_HUMAN	distal-less homeobox 5	145					cell proliferation|endochondral ossification|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)	20	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)					CTGAAAGCTGGAATAAATAGT	0.498													46	72					0	0	1	0	0	C	96651603	G	C	96651603	3	2	100	1	0	0	0	0	1	0	0	0	4602	1174	41	5	443	5	DLX5	7	96651603	Missense_Mutation	SNP	G	TCGA-DU-7007-01A-11D-2024-08	20597212	96651603	62487060	15	20038											
MUC17	140453	broad.mit.edu	37	7	100679309	100679309	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr7:100679309C>G	ENST00000306151.4	+	3	4676	c.4612C>G	c.(4612-4614)Cct>Gct	p.P1538A		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1538	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TTCAACAACTCCTGCTGTCAC	0.473													46	250					0	0	1	0	0	G	100679309	C	G	100679309	3	3	100	1	0	0	0	0	1	0	0	0	10022	855	30	5	4622	5	MUC17	7	100679309	Missense_Mutation	SNP	C	TCGA-DU-7007-01A-11D-2024-08	4027706	100679309	58459354	16	20039											
PAX4	5078	broad.mit.edu	37	7	127255046	127255046	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr7:127255046G>C	ENST00000341640.2	-	2	429	c.224C>G	c.(223-225)cCt>cGt	p.P75R	PAX4_ENST00000338516.3_Missense_Mutation_p.P83R|PAX4_ENST00000378740.2_Missense_Mutation_p.P75R|PAX4_ENST00000463946.1_Missense_Mutation_p.P73R	NM_006193.2	NP_006184.2	O43316	PAX4_HUMAN	paired box 4	83	Paired.				cell differentiation|endocrine pancreas development|organ morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|kidney(2)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						AGCCACCACAGGGGGTGTAGC	0.582													45	60					0	0	1	0	0	C	127255046	G	C	127255046	3	2	100	1	0	0	0	0	1	0	0	0	11528	1000	35	4	839	4	PAX4	7	127255046	Missense_Mutation	SNP	G	TCGA-DU-7007-01A-11D-2024-08	26575737	127255046	31883617	17	20040											
KEL	3792	broad.mit.edu	37	7	142655011	142655011	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr7:142655011C>T	ENST00000355265.2	-	6	1049	c.575G>A	c.(574-576)cGa>cAa	p.R192Q	KEL_ENST00000479768.2_5'UTR	NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	192					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding	p.R192Q(1)		central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					TCTCAGCGTTCGGTTAAAGTT	0.522													16	40					0	0	1	0	0	T	142655011	C	T	142655011	3	4	100	1	0	0	0	0	1	0	0	0	8185	884	31	1	1679	1	KEL	7	142655011	Missense_Mutation	SNP	C	TCGA-DU-7007-01A-11D-2024-08	15399965	142655011	16483652	18	20041											
COL14A1	7373	broad.mit.edu	37	8	121290392	121290392	+	Nonsense_Mutation	SNP	A	A	T			TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr8:121290392A>T	ENST00000297848.3	+	27	3526	c.3256A>T	c.(3256-3258)Aaa>Taa	p.K1086*	COL14A1_ENST00000247781.3_Nonsense_Mutation_p.K991*|COL14A1_ENST00000309791.4_Nonsense_Mutation_p.K1086*	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	1086	VWFA 2.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			AACAGAATTTAAACTAAATGC	0.378													52	59					0	0	1	0	0	T	121290392	A	T	121290392	4	4	100	1	0	0	0	0	0	1	0	0	3694	363	13	5	3358	5	COL14A1	8	121290392	Nonsense_Mutation	SNP	A	TCGA-DU-7007-01A-11D-2024-08		121290392	25073630	19	20042											
BICD2	23299	broad.mit.edu	37	9	95481306	95481306	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr9:95481306C>T	ENST00000356884.6	-	5	1688	c.1621G>A	c.(1621-1623)Gtg>Atg	p.V541M	BICD2_ENST00000375512.3_Missense_Mutation_p.V541M	NM_001003800.1	NP_001003800.1	Q8TD16	BICD2_HUMAN	bicaudal D homolog 2 (Drosophila)	541					microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule	cytoplasmic vesicle|cytoskeleton|Golgi apparatus|plasma membrane	Rab GTPase binding			cervix(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						CACATGCACACGTGGTGGTAG	0.657													18	61					0	0	1	0	0	T	95481306	C	T	95481306	3	4	100	1	0	0	0	0	1	0	0	0	1428	536	19	1	968	1	BICD2	9	95481306	Missense_Mutation	SNP	C	TCGA-DU-7007-01A-11D-2024-08		95481306	45732125	20	20043											
DBH	1621	broad.mit.edu	37	9	136501814	136501814	+	Silent	SNP	G	G	A			TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr9:136501814G>A	ENST00000393056.2	+	1	333	c.321G>A	c.(319-321)ggG>ggA	p.G107G		NM_000787.3	NP_000778.3	P09172	DOPO_HUMAN	dopamine beta-hydroxylase (dopamine beta-monooxygenase)	107	DOMON.				hormone biosynthetic process	chromaffin granule lumen|chromaffin granule membrane|extracellular region|integral to membrane|membrane fraction|soluble fraction|transport vesicle membrane	dopamine beta-monooxygenase activity|L-ascorbic acid binding			central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	36				OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	Dopamine(DB00988)|Vitamin C(DB00126)	GGACCGATGGGGACACTGCCT	0.617													5	23					0	0	1	0	0	A	136501814	G	A	136501814	2	1	100	1	0	0	0	0	0	0	0	1	4274	1219	43	2		2	DBH	9	136501814	Silent	SNP	G	TCGA-DU-7007-01A-11D-2024-08	41020508	136501814	4711617	21	20044											
RPP30	10556	broad.mit.edu	37	10	92631801	92631801	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr10:92631801G>A	ENST00000413330.1	+	1	93	c.58G>A	c.(58-60)Gga>Aga	p.G20R	RPP30_ENST00000371703.3_Missense_Mutation_p.G20R	NM_001104546.1	NP_001098016.1	P78346	RPP30_HUMAN	ribonuclease P/MRP 30kDa subunit	20					tRNA processing	nucleolar ribonuclease P complex	protein binding|ribonuclease P activity	p.G20R(1)		central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)	8						GGCTCTGCGCGGACTTGTGGA	0.637													66	91					0	0	1	0	0	A	92631801	G	A	92631801	3	1	100	1	0	0	0	0	1	0	0	0	13664	1117	39	1	60	1	RPP30	10	92631801	Missense_Mutation	SNP	G	TCGA-DU-7007-01A-11D-2024-08		92631801	42902946	22	20045											
ATG2A	23130	broad.mit.edu	37	11	64677554	64677554	+	Silent	SNP	C	C	A			TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr11:64677554C>A	ENST00000421419.2	-	13	1935	c.1821G>T	c.(1819-1821)ctG>ctT	p.L607L	ATG2A_ENST00000377264.3_Silent_p.L607L			Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	607							protein binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						TGGCCAGGCGCAGTAGGGCGG	0.721													3	20					0.115264	0.115264	1	1	0	A	64677554	C	A	64677554	2	1	100	1	0	0	0	0	0	0	0	1	1092	697	25	5		5	ATG2A	11	64677554	Silent	SNP	C	TCGA-DU-7007-01A-11D-2024-08		64677554	70328962	23	20046											
SPA17	53340	broad.mit.edu	37	11	124564278	124564278	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr11:124564278G>A	ENST00000532692.1	+	4	1813	c.392G>A	c.(391-393)aGa>aAa	p.R131K	SPA17_ENST00000524614.1_3'UTR|SIAE_ENST00000525730.1_5'UTR|SPA17_ENST00000227135.2_Missense_Mutation_p.R131K			Q15506	SP17_HUMAN	sperm autoantigenic protein 17	131	IQ.				binding of sperm to zona pellucida|ciliary or flagellar motility|signal transduction|spermatogenesis	cytoplasm|flagellum|membrane|motile cilium|primary cilium	cAMP-dependent protein kinase regulator activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)	5	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0223)		CACATAGCCAGAGAGGAGGCA	0.408													15	92					0	0	1	0	0	A	124564278	G	A	124564278	3	1	100	1	0	0	0	0	1	0	0	0	15025	942	33	2	406	2	SPA17	11	124564278	Missense_Mutation	SNP	G	TCGA-DU-7007-01A-11D-2024-08	59886724	124564278	10442238	24	20047											
M6PR	4074	broad.mit.edu	37	12	9094479	9094479	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr12:9094479C>T	ENST00000000412.3	-	7	1237	c.769G>A	c.(769-771)Ggt>Agt	p.G257S		NM_002355.3	NP_002346.1	P20645	MPRD_HUMAN	mannose-6-phosphate receptor (cation dependent)	257					endosome to lysosome transport|receptor-mediated endocytosis	cell surface|endosome|integral to plasma membrane|lysosomal membrane	mannose binding|mannose transmembrane transporter activity|transmembrane receptor activity			cervix(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(1)	11		Hepatocellular(102;0.137)		BRCA - Breast invasive adenocarcinoma(232;0.0146)		TCCCCCACACCACGATATGCT	0.468													53	404					0	0	1	0	0	T	9094479	C	T	9094479	3	4	100	1	0	0	0	0	1	0	0	0	9186	594	21	2	68	2	M6PR	12	9094479	Missense_Mutation	SNP	C	TCGA-DU-7007-01A-11D-2024-08		9094479	124757416	25	20048											
PRB3	5544	broad.mit.edu	37	12	11420518	11420518	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr12:11420518G>A	ENST00000279573.7	-	3	800	c.665C>T	c.(664-666)cCg>cTg	p.P222L	PRB3_ENST00000381842.3_Intron|PRB3_ENST00000440870.3_Intron|PRB3_ENST00000538488.1_Missense_Mutation_p.P201L			Q04118	PRB3_HUMAN	proline-rich protein BstNI subfamily 3		10 X 21 AA tandem repeats of [RH]-P-G-K- P-[EQ]-G-[PQS]-P-[PS]-Q-[GE]-G-N-[QK]- [SP]-[QR]-[GR]-P-P-P.|Pro-rich.					extracellular region	Gram-negative bacterial cell surface binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5)	25			OV - Ovarian serous cystadenocarcinoma(49;0.201)			TGGCTTTCCCGGACGAGGTGG	0.617													84	852					0	0	1	0	0	A	11420518	G	A	11420518	3	1	100	1	0	0	0	0	1	0	0	0	12496	1116	39	1	272	1	PRB3	12	11420518	Missense_Mutation	SNP	G	TCGA-DU-7007-01A-11D-2024-08	2326039	11420518	122431377	26	20049			1	5		2	2	64	G		9.5645e-05
PRB3	5544	broad.mit.edu	37	12	11420581	11420581	+	Missense_Mutation	SNP	G	G	A	rs71057716		TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr12:11420581G>A	ENST00000279573.7	-	3	737	c.602C>T	c.(601-603)cCg>cTg	p.P201L	PRB3_ENST00000381842.3_Missense_Mutation_p.P201L|PRB3_ENST00000440870.3_Intron|PRB3_ENST00000538488.1_Missense_Mutation_p.P180L			Q04118	PRB3_HUMAN	proline-rich protein BstNI subfamily 3		10 X 21 AA tandem repeats of [RH]-P-G-K- P-[EQ]-G-[PQS]-P-[PS]-Q-[GE]-G-N-[QK]- [SP]-[QR]-[GR]-P-P-P.|Pro-rich.		Missing (in allele S).			extracellular region	Gram-negative bacterial cell surface binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5)	25			OV - Ovarian serous cystadenocarcinoma(49;0.201)			TGGCTTTCCCGGACGAGGTGG	0.632													99	1916					0	0	1	0	0	A	11420581	G	A	11420581	3	1	100	1	0	0	0	0	1	0	0	0	12496	1116	39	1	335	1	PRB3	12	11420581	Missense_Mutation	SNP	G	TCGA-DU-7007-01A-11D-2024-08	63	11420581	122431314	27	20050			1	5		2	2	64	G		9.5645e-05
GPRC5D	55507	broad.mit.edu	37	12	13102595	13102595	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr12:13102595C>T	ENST00000228887.1	-	1	723	c.724G>A	c.(724-726)Gtc>Atc	p.V242I	RP11-392P7.6_ENST00000542078.1_RNA|RP11-392P7.6_ENST00000394742.3_RNA|RP11-392P7.6_ENST00000545914.1_RNA|RP11-392P7.6_ENST00000540198.1_RNA|RP11-392P7.6_ENST00000536029.1_RNA|GPRC5D_ENST00000396333.3_Missense_Mutation_p.V242I|RP11-392P7.6_ENST00000543515.2_RNA	NM_018654.1	NP_061124.1	Q9NZD1	GPC5D_HUMAN	G protein-coupled receptor, family C, group 5, member D	242						integral to membrane|plasma membrane	G-protein coupled receptor activity			kidney(2)|large_intestine(2)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9		Prostate(47;0.183)		BRCA - Breast invasive adenocarcinoma(232;0.15)		GCAATGCAGACGACCGGGTCG	0.567													15	74					0	0	1	0	0	T	13102595	C	T	13102595	3	4	100	1	0	0	0	0	1	0	0	0	6768	536	19	1	323	1	GPRC5D	12	13102595	Missense_Mutation	SNP	C	TCGA-DU-7007-01A-11D-2024-08	1682014	13102595	120749300	28	20051											
METAP2	10988	broad.mit.edu	37	12	95868076	95868078	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr12:95868076_95868078delAAG	ENST00000323666.5	+	1	350_352	c.121_123delAAG	c.(121-123)aagdel	p.K44del	METAP2_ENST00000261220.9_In_Frame_Del_p.K44del|METAP2_ENST00000551840.1_In_Frame_Del_p.K44del|METAP2_ENST00000546753.1_In_Frame_Del_p.K44del|METAP2_ENST00000550777.1_In_Frame_Del_p.K44del	NM_006838.3	NP_006829.1	P50579	AMPM2_HUMAN	methionyl aminopeptidase 2	44	Arg/Lys-rich (basic).				N-terminal protein amino acid modification|peptidyl-methionine modification|protein processing|proteolysis	cytoplasm	aminopeptidase activity|metal ion binding|metalloexopeptidase activity			endometrium(3)|large_intestine(2)|lung(7)|prostate(1)	13					L-Methionine(DB00134)	AAAAAGACGAAAGAAGAAGAAGA	0.557													11	45	---	---	---	---						-	95868078	AAG	-	95868076	7	5	100	1	0	1	0	1	0	0	0	0	9537	15	1	0	123	0	METAP2	12	95868076	In_Frame_Del	DEL	AAG	TCGA-DU-7007-01A-11D-2024-08	82765481	95868076	37983819	29	20052											
DNAH10	196385	broad.mit.edu	37	12	124332564	124332564	+	Silent	SNP	C	C	T			TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr12:124332564C>T	ENST00000409039.3	+	32	5542	c.5517C>T	c.(5515-5517)acC>acT	p.T1839T		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1839	AAA 1 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		CCGGCAAAACCGAGACCACCA	0.552													55	34					0	0	1	0	0	T	124332564	C	T	124332564	2	4	100	1	0	0	0	0	0	0	0	1	4626	639	23	1		1	DNAH10	12	124332564	Silent	SNP	C	TCGA-DU-7007-01A-11D-2024-08	28464488	124332564	9519331	30	20053											
COL4A2	1284	broad.mit.edu	37	13	111147702	111147702	+	Silent	SNP	C	C	T			TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr13:111147702C>T	ENST00000360467.5	+	40	3954	c.3648C>T	c.(3646-3648)caC>caT	p.H1216H		NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	1216	Triple-helical region.				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			CTGACATCCACGGAGACCCAG	0.557													11	96					0	0	1	0	0	T	111147702	C	T	111147702	2	4	100	1	0	0	0	0	0	0	0	1	3713	535	19	1		1	COL4A2	13	111147702	Silent	SNP	C	TCGA-DU-7007-01A-11D-2024-08		111147702	4022176	31	20054											
FGF7	2252	broad.mit.edu	37	15	49776652	49776652	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr15:49776652C>T	ENST00000267843.4	+	4	1147	c.536C>T	c.(535-537)aCg>aTg	p.T179M	FAM227B_ENST00000299338.6_Intron|FAM227B_ENST00000561064.1_Intron|FGF7_ENST00000560704.1_3'UTR	NM_002009.3	NP_002000.1	P21781	FGF7_HUMAN	fibroblast growth factor 7	179					actin cytoskeleton reorganization|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|mesenchymal cell proliferation|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of keratinocyte migration|positive regulation of keratinocyte proliferation|positive regulation of peptidyl-tyrosine phosphorylation|protein localization at cell surface|secretion by lung epithelial cell involved in lung growth		chemoattractant activity|growth factor activity	p.T179M(1)		kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5		all_lung(180;0.00391)		all cancers(107;3.61e-08)|GBM - Glioblastoma multiforme(94;4.06e-05)	Palifermin(DB00039)	GGAAAAAAAACGAAGAAAGAA	0.373													6	17					0	0	1	0	0	T	49776652	C	T	49776652	3	4	100	1	0	0	0	0	1	0	0	0	5890	536	19	1	546	1	FGF7	15	49776652	Missense_Mutation	SNP	C	TCGA-DU-7007-01A-11D-2024-08		49776652	52754740	32	20055											
BNIP2	663	broad.mit.edu	37	15	59971949	59971949	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr15:59971949C>T	ENST00000267859.3	-	4	593	c.500G>A	c.(499-501)gGa>gAa	p.G167E	BNIP2_ENST00000607373.1_Missense_Mutation_p.G46E|BNIP2_ENST00000415213.2_Missense_Mutation_p.G108E			Q12982	BNIP2_HUMAN	BCL2/adenovirus E1B 19kDa interacting protein 2	46	CRAL-TRIO.				anti-apoptosis|apoptosis|positive regulation of muscle cell differentiation	nuclear envelope|perinuclear region of cytoplasm	calcium ion binding|GTPase activator activity|protein binding			NS(1)|large_intestine(2)|lung(5)|ovary(1)	9						CACTTTATTTCCATTAACTTC	0.368													4	25					0	0	1	0	0	T	59971949	C	T	59971949	3	4	100	1	0	0	0	0	1	0	0	0	1476	855	30	2	835	2	BNIP2	15	59971949	Missense_Mutation	SNP	C	TCGA-DU-7007-01A-11D-2024-08	10195297	59971949	42559443	33	20056											
CCDC33	80125	broad.mit.edu	37	15	74554908	74554908	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr15:74554908C>T	ENST00000321288.5	+	5	922	c.922C>T	c.(922-924)Caa>Taa	p.Q308*	CCDC33_ENST00000398814.3_Nonsense_Mutation_p.Q105*			Q8N5R6	CCD33_HUMAN	coiled-coil domain containing 33	308	C2.						protein binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						GGATGCAGGGCAAGAAGGTAA	0.597													4	12					0	0	1	0	0	T	74554908	C	T	74554908	4	4	100	1	0	0	0	0	0	1	0	0	2825	711	25	2	323	2	CCDC33	15	74554908	Nonsense_Mutation	SNP	C	TCGA-DU-7007-01A-11D-2024-08	14582959	74554908	27976484	34	20057											
GPR139	124274	broad.mit.edu	37	16	20043246	20043246	+	Silent	SNP	C	C	G			TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr16:20043246C>G	ENST00000570682.1	-	2	1173	c.873G>C	c.(871-873)cgG>cgC	p.R291R		NM_001002911.2	NP_001002911.1	Q6DWJ6	GP139_HUMAN	G protein-coupled receptor 139	291						integral to membrane|plasma membrane				autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	30						TGGTGCGGAACCGCTTGCTGA	0.502													21	120					0	0	1	0	0	G	20043246	C	G	20043246	2	3	100	1	0	0	0	0	0	0	0	1	6688	494	18	5		5	GPR139	16	20043246	Silent	SNP	C	TCGA-DU-7007-01A-11D-2024-08		20043246	70311507	35	20058											
ZNF629	23361	broad.mit.edu	37	16	30795077	30795077	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr16:30795077G>A	ENST00000262525.4	-	3	779	c.572C>T	c.(571-573)tCg>tTg	p.S191L		NM_001080417.1	NP_001073886.1	Q9UEG4	ZN629_HUMAN	zinc finger protein 629	191					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(3)|urinary_tract(1)	22			Colorectal(24;0.198)			CACCAGGTGCGAGCTCTGCGT	0.657													4	35					0	0	1	0	0	A	30795077	G	A	30795077	3	1	100	1	0	0	0	0	1	0	0	0	18110	1059	37	1	2041	1	ZNF629	16	30795077	Missense_Mutation	SNP	G	TCGA-DU-7007-01A-11D-2024-08	10751831	30795077	59559676	36	20059											
AMFR	267	broad.mit.edu	37	16	56442018	56442018	+	Missense_Mutation	SNP	G	G	A	rs147760918		TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr16:56442018G>A	ENST00000290649.5	-	4	734	c.524C>T	c.(523-525)tCg>tTg	p.S175L		NM_001144.5	NP_001135.3	Q9UKV5	AMFR2_HUMAN	autocrine motility factor receptor, E3 ubiquitin protein ligase	175					endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|protein oligomerization|protein polyubiquitination	integral to endoplasmic reticulum membrane|integral to membrane of membrane fraction	protein binding|receptor activity|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17						CGTGGTGGGCGAGAAGGAAAG	0.532													8	19					0	0	1	0	0	A	56442018	G	A	56442018	3	1	100	1	0	0	0	0	1	0	0	0	567	1059	37	1	1451	1	AMFR	16	56442018	Missense_Mutation	SNP	G	TCGA-DU-7007-01A-11D-2024-08	25646941	56442018	33912735	37	20060											
TP53	7157	broad.mit.edu	37	17	7579311	7579311	+	Splice_Site	SNP	C	C	G	rs68140816		TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr17:7579311C>G	ENST00000420246.2	-	4	508		c.e4+1		TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000269305.4_Splice_Site	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53						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.?(26)|p.0?(8)|p.V73fs*9(1)|p.Y126fs*11(1)|p.P13fs*18(1)|p.T125_Y126insX(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)		GGGCAACTGACCGTGCAAGTC	0.532		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)			49	14					0	0	1	0	0	G	7579311	C	G	7579311	5	3	100	1	0	0	0	0	0	0	1	0	16442	521	18	5	926	5	TP53	17	7579311	Splice_Site	SNP	C	TCGA-DU-7007-01A-11D-2024-08		7579311	73615899	38	20061											
HELZ	9931	broad.mit.edu	37	17	65105453	65105453	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr17:65105453T>C	ENST00000358691.5	-	29	4434	c.4268A>G	c.(4267-4269)tAt>tGt	p.Y1423C	HELZ_ENST00000580168.1_Missense_Mutation_p.Y1424C	NM_014877.3	NP_055692			helicase with zinc finger											NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					TCCCGCCTGATATGCAGGAGA	0.527													29	46					0	0	1	0	0	C	65105453	T	C	65105453	3	2	100	1	0	0	0	0	1	0	0	0	7090	1406	49	3	1580	3	HELZ	17	65105453	Missense_Mutation	SNP	T	TCGA-DU-7007-01A-11D-2024-08	57526142	65105453	16089757	39	20062											
SDK2	54549	broad.mit.edu	37	17	71375616	71375616	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr17:71375616G>A	ENST00000392650.3	-	35	4835	c.4835C>T	c.(4834-4836)cCc>cTc	p.P1612L	SDK2_ENST00000388726.3_Missense_Mutation_p.P1593L	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	1612	Fibronectin type-III 10.				cell adhesion	integral to membrane				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						CTCCTGCGGGGGGCTGGAGGG	0.657													3	40					0	0	1	0	0	A	71375616	G	A	71375616	3	1	100	1	0	0	0	0	1	0	0	0	14023	1232	43	2	1727	2	SDK2	17	71375616	Missense_Mutation	SNP	G	TCGA-DU-7007-01A-11D-2024-08	6270163	71375616	9819594	40	20063											
TTYH2	94015	broad.mit.edu	37	17	72246149	72246149	+	Silent	SNP	C	C	T			TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr17:72246149C>T	ENST00000441391.2	+	3	1254	c.42C>T	c.(40-42)ccC>ccT	p.P14P	TTYH2_ENST00000269346.4_Silent_p.P335P|TTYH2_ENST00000534346.1_3'UTR|TTYH2_ENST00000529107.1_Silent_p.P314P	NM_052869.1	NP_443101.1	Q9BSA4	TTYH2_HUMAN	tweety family member 2	335						chloride channel complex|plasma membrane	chloride channel activity|protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(14)|ovary(3)|pancreas(1)|stomach(3)|upper_aerodigestive_tract(1)	36						TTGCCGTGCCCCTCTTCTCCA	0.652													35	53					0	0	1	0	0	T	72246149	C	T	72246149	2	4	100	1	0	0	0	0	0	0	0	1	16802	610	22	2		2	TTYH2	17	72246149	Silent	SNP	C	TCGA-DU-7007-01A-11D-2024-08	870533	72246149	8949061	41	20064											
ACER1	125981	broad.mit.edu	37	19	6307219	6307219	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr19:6307219G>A	ENST00000301452.4	-	5	648	c.571C>T	c.(571-573)Cgt>Tgt	p.R191C		NM_133492.2	NP_597999.1	Q8TDN7	ACER1_HUMAN	alkaline ceramidase 1	191						endoplasmic reticulum membrane|integral to membrane	ceramidase activity			NS(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|pancreas(1)	15						CAAAGCAGACGGTCACTGATC	0.542													11	47					0	0	1	0	0	A	6307219	G	A	6307219	3	1	100	1	0	0	0	0	1	0	0	0	138	1116	39	1	231	1	ACER1	19	6307219	Missense_Mutation	SNP	G	TCGA-DU-7007-01A-11D-2024-08		6307219	52821764	42	20065											
GPR32	2854	broad.mit.edu	37	19	51273893	51273893	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr19:51273893T>A	ENST00000270590.4	+	1	173	c.36T>A	c.(34-36)agT>agA	p.S12R		NM_001506.1	NP_001497.1	O75388	GPR32_HUMAN	G protein-coupled receptor 32	12						integral to plasma membrane	N-formyl peptide receptor activity			breast(4)|endometrium(4)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	29		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		GAGGCTGCAGTGACAGGCAAC	0.498													7	15					0	0	1	0	0	A	51273893	T	A	51273893	3	1	100	1	0	0	0	0	1	0	0	0	6728	1693	59	5	38	5	GPR32	19	51273893	Missense_Mutation	SNP	T	TCGA-DU-7007-01A-11D-2024-08	44966674	51273893	7855090	43	20066											
PCIF1	63935	broad.mit.edu	37	20	44567656	44567656	+	Silent	SNP	C	C	T			TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr20:44567656C>T	ENST00000372409.3	+	3	382	c.18C>T	c.(16-18)caC>caT	p.H6H		NM_022104.3	NP_071387.1	Q9H4Z3	PCIF1_HUMAN	PDX1 C-terminal inhibiting factor 1	6						nucleus				central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	20						ATGAGAATCACGGCAGCCCCC	0.602													12	86					0	0	1	0	0	T	44567656	C	T	44567656	2	4	100	1	0	0	0	0	0	0	0	1	11627	535	19	1		1	PCIF1	20	44567656	Silent	SNP	C	TCGA-DU-7007-01A-11D-2024-08		44567656	18457864	44	20067											
APOBEC3H	164668	broad.mit.edu	37	22	39497965	39497965	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr22:39497965C>T	ENST00000442487.3	+	4	588	c.461C>T	c.(460-462)cCg>cTg	p.P154L	APOBEC3H_ENST00000421988.2_Intron|APOBEC3H_ENST00000348946.4_Missense_Mutation_p.P154L|APOBEC3H_ENST00000401756.1_Missense_Mutation_p.P154L	NM_181773.3	NP_861438.2	Q6NTF7	ABC3H_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3H	154					DNA cytosine deamination|negative regulation of retroviral genome replication|negative regulation of transposition	cytoplasm|nucleus	cytidine deaminase activity|zinc ion binding			central_nervous_system(1)|kidney(8)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	15	Melanoma(58;0.04)					CACGAGAAACCGCTTTCCTTC	0.537													26	9					0	0	1	0	0	T	39497965	C	T	39497965	3	4	100	1	0	0	0	0	1	0	0	0	792	652	23	1	471	1	APOBEC3H	22	39497965	Missense_Mutation	SNP	C	TCGA-DU-7007-01A-11D-2024-08		39497965	11806601	45	20068											
ATRX	546	broad.mit.edu	37	X	76814313	76814313	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chrX:76814313G>A	ENST00000373344.5	-	29	6545	c.6331C>T	c.(6331-6333)Cga>Tga	p.R2111*	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Nonsense_Mutation_p.R2073*	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	2111	Helicase C-terminal.				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.R2111*(1)|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)	ATAAATAATCGTCCTCTGAAA	0.274			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						15	6					0	0	1	0	0	A	76814313	G	A	76814313	4	1	100	1	0	0	0	0	0	1	0	0	1206	1153	40	1	1175	1	ATRX	23	76814313	Nonsense_Mutation	SNP	G	TCGA-DU-7007-01A-11D-2024-08		76814313	78456247	46	20069											
COL4A5	1287	broad.mit.edu	37	X	107938508	107938508	+	Silent	SNP	A	A	T			TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chrX:107938508A>T	ENST00000328300.6	+	52	5077	c.4833A>T	c.(4831-4833)gcA>gcT	p.A1611A	COL4A5_ENST00000361603.2_Silent_p.A1605A	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	1605	Collagen IV NC1.		Missing (in APSX).		axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						ATACAAGTGCAGGGGCAGAAG	0.488									Alport syndrome with Diffuse Leiomyomatosis				19	50					0	0	1	0	0	T	107938508	A	T	107938508	2	4	100	1	0	0	0	0	0	0	0	1	3717	175	7	5		5	COL4A5	23	107938508	Silent	SNP	A	TCGA-DU-7007-01A-11D-2024-08	31124195	107938508	47332052	47	20070											
TMEM82	388595	broad.mit.edu	37	1	16074101	16074101	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-7008-01A-11D-2024-08	TCGA-DU-7008-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c15983e-ae64-402f-908c-72a55f792e06	1b8094fc-ab39-4fd4-bf93-6cc777c62e61	g.chr1:16074101C>A	ENST00000375782.1	+	6	1144	c.1006C>A	c.(1006-1008)Cag>Aag	p.Q336K	RP11-169K16.4_ENST00000418525.1_RNA	NM_001013641.1	NP_001013663.1	A0PJX8	TMM82_HUMAN	transmembrane protein 82	336						integral to membrane				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|lung(5)|prostate(1)|skin(1)	13		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.73e-07)|COAD - Colon adenocarcinoma(227;3.49e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000114)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CTCGGCACCCCAGTCCCAGAG	0.602													22	59					3.08376e-08	3.46137e-08	0.083992	1	0	A	16074101	C	A	16074101	3	1	101	1	0	0	0	0	1	0	0	0	16266	595	21	5	1028	5	TMEM82	1	16074101	Missense_Mutation	SNP	C	TCGA-DU-7008-01A-11D-2024-08		16074101	233176520	1	20071											
OR2T11	127077	broad.mit.edu	37	1	248789593	248789593	+	Silent	SNP	C	C	T			TCGA-DU-7008-01A-11D-2024-08	TCGA-DU-7008-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c15983e-ae64-402f-908c-72a55f792e06	1b8094fc-ab39-4fd4-bf93-6cc777c62e61	g.chr1:248789593C>T	ENST00000330803.2	-	1	898	c.837G>A	c.(835-837)acG>acA	p.T279T		NM_001001964.1	NP_001001964.1	Q8NH01	O2T11_HUMAN	olfactory receptor, family 2, subfamily T, member 11 (gene/pseudogene)	279					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(5)|lung(20)|skin(2)	28	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TAAGCATGGGCGTGACAATGG	0.488													11	105					0	0	0.069234	0	0	T	248789593	C	T	248789593	2	4	101	1	0	0	0	0	0	0	0	1	11066	755	27	1		1	OR2T11	1	248789593	Silent	SNP	C	TCGA-DU-7008-01A-11D-2024-08	232715492	248789593	461028	2	20072											
SF3B1	23451	broad.mit.edu	37	2	198268407	198268407	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-7008-01A-11D-2024-08	TCGA-DU-7008-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c15983e-ae64-402f-908c-72a55f792e06	1b8094fc-ab39-4fd4-bf93-6cc777c62e61	g.chr2:198268407A>G	ENST00000335508.6	-	12	1712	c.1621T>C	c.(1621-1623)Tct>Cct	p.S541P		NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa		Interaction with SF3B14.				nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding			NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			AGTGTAGGAGACATCAGCAGA	0.408			Mis		myelodysplastic syndrome								27	22					0	0	0.099896	0	0	G	198268407	A	G	198268407	3	3	101	1	0	0	0	0	1	0	0	0	14203	275	10	3	2349	3	SF3B1	2	198268407	Missense_Mutation	SNP	A	TCGA-DU-7008-01A-11D-2024-08		198268407	44930966	3	20073											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-DU-7008-01A-11D-2024-08	TCGA-DU-7008-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c15983e-ae64-402f-908c-72a55f792e06	1b8094fc-ab39-4fd4-bf93-6cc777c62e61	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	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								23	47					0	0	0.0918	0	0	T	209113112	C	T	209113112	3	4	101	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-DU-7008-01A-11D-2024-08	10844705	209113112	34086261	4	20074											
HTR2B	3357	broad.mit.edu	37	2	231973908	231973908	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-7008-01A-11D-2024-08	TCGA-DU-7008-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c15983e-ae64-402f-908c-72a55f792e06	1b8094fc-ab39-4fd4-bf93-6cc777c62e61	g.chr2:231973908G>A	ENST00000258400.3	-	4	1281	c.769C>T	c.(769-771)Caa>Taa	p.Q257*	PSMD1_ENST00000409643.1_Intron|PSMD1_ENST00000373635.4_Intron|PSMD1_ENST00000308696.6_Intron	NM_000867.4	NP_000858.3	P41595	5HT2B_HUMAN	5-hydroxytryptamine (serotonin) receptor 2B, G protein-coupled	257					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cardiac muscle hypertrophy|cellular response to calcium ion|cellular response to temperature stimulus|cGMP biosynthetic process|embryonic morphogenesis|ERK1 and ERK2 cascade|G-protein coupled receptor internalization|heart morphogenesis|intestine smooth muscle contraction|negative regulation of apoptosis|negative regulation of autophagy|neural crest cell migration|phosphatidylinositol 3-kinase cascade|phosphatidylinositol biosynthetic process|phosphorylation|positive regulation of cell division|positive regulation of cytokine production|positive regulation of cytokine secretion|positive regulation of endothelial cell proliferation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAP kinase activity|positive regulation of nitric-oxide synthase activity|protein kinase C signaling cascade|regulation of behavior|release of sequestered calcium ion into cytosol|response to drug|vasoconstriction	cytoplasm|integral to membrane|plasma membrane	calcium channel activity|drug binding|G-protein alpha-subunit binding|phosphatidylinositol phospholipase C activity|Ras GTPase activator activity|serotonin binding|serotonin receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1)	11		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232)		Epithelial(121;4.48e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0141)	Chlorprothixene(DB01239)|Eletriptan(DB00216)|Fenfluramine(DB00574)|Methotrimeprazine(DB01403)|Minaprine(DB00805)|Quetiapine(DB01224)|Sumatriptan(DB00669)|Tegaserod(DB01079)|Triflupromazine(DB00508)	GTTAGGCGTTGAGGTGGCTTG	0.453													40	61					0	0	0.09836	0	0	A	231973908	G	A	231973908	4	1	101	1	0	0	0	0	0	1	0	0	7486	1299	45	2	680	2	HTR2B	2	231973908	Nonsense_Mutation	SNP	G	TCGA-DU-7008-01A-11D-2024-08	22860796	231973908	11225465	5	20075											
MAP3K13	9175	broad.mit.edu	37	3	185161416	185161416	+	Silent	SNP	A	A	G			TCGA-DU-7008-01A-11D-2024-08	TCGA-DU-7008-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c15983e-ae64-402f-908c-72a55f792e06	1b8094fc-ab39-4fd4-bf93-6cc777c62e61	g.chr3:185161416A>G	ENST00000265026.3	+	4	1177	c.843A>G	c.(841-843)aaA>aaG	p.K281K	MAP3K13_ENST00000446828.1_Silent_p.K74K|MAP3K13_ENST00000443863.1_Silent_p.K137K|MAP3K13_ENST00000424227.1_Silent_p.K281K|MAP3K13_ENST00000535426.1_Silent_p.K137K	NM_004721.4	NP_004712.1	O43283	M3K13_HUMAN	mitogen-activated protein kinase kinase kinase 13	281	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)			GTGATCTCAAATCACCTAAGT	0.378													38	56					0	0	0.09836	0	0	G	185161416	A	G	185161416	2	3	101	1	0	0	0	0	0	0	0	1	9297	98	4	3		3	MAP3K13	3	185161416	Silent	SNP	A	TCGA-DU-7008-01A-11D-2024-08		185161416	12861014	6	20076											
FAT1	2195	broad.mit.edu	37	4	187524637	187524637	+	Silent	SNP	A	A	G			TCGA-DU-7008-01A-11D-2024-08	TCGA-DU-7008-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c15983e-ae64-402f-908c-72a55f792e06	1b8094fc-ab39-4fd4-bf93-6cc777c62e61	g.chr4:187524637A>G	ENST00000441802.2	-	19	11252	c.11043T>C	c.(11041-11043)gtT>gtC	p.V3681V		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	3681					actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						ACTGCAAACTAACAATCTGTA	0.478										HNSCC(5;0.00058)			7	23					0	0	0.02938	0	0	G	187524637	A	G	187524637	2	3	101	1	0	0	0	0	0	0	0	1	5722	349	13	3		3	FAT1	4	187524637	Silent	SNP	A	TCGA-DU-7008-01A-11D-2024-08		187524637	3629639	7	20077											
HSD17B4	3295	broad.mit.edu	37	5	118867014	118867014	+	Silent	SNP	G	G	A			TCGA-DU-7008-01A-11D-2024-08	TCGA-DU-7008-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c15983e-ae64-402f-908c-72a55f792e06	1b8094fc-ab39-4fd4-bf93-6cc777c62e61	g.chr5:118867014G>A	ENST00000504811.1	+	23	2167	c.1983G>A	c.(1981-1983)aaG>aaA	p.K661K	HSD17B4_ENST00000414835.2_Silent_p.K496K|HSD17B4_ENST00000509514.1_Silent_p.K374K|HSD17B4_ENST00000515320.1_Silent_p.K618K|HSD17B4_ENST00000522415.1_3'UTR|HSD17B4_ENST00000256216.6_Silent_p.K636K|HSD17B4_ENST00000510025.1_Silent_p.K612K|HSD17B4_ENST00000513628.1_Silent_p.K499K	NM_001199291.1	NP_001186220.1	P51659	DHB4_HUMAN	hydroxysteroid (17-beta) dehydrogenase 4	636	SCP2.				bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	3-hydroxyacyl-CoA dehydrogenase activity|3alpha,7alpha,12alpha-trihydroxy-5beta-cholest-24-enoyl-CoA hydratase activity|estradiol 17-beta-dehydrogenase activity|isomerase activity|long-chain-enoyl-CoA hydratase activity|protein binding|sterol binding|sterol transporter activity			breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(2)	25		all_cancers(142;0.0206)|Prostate(80;0.0322)		OV - Ovarian serous cystadenocarcinoma(64;0.000247)|Epithelial(69;0.000849)|all cancers(49;0.0122)	NADH(DB00157)	GCCGCCTAAAGGATATTGGGC	0.403													39	45					0	0	0.080422	0	0	A	118867014	G	A	118867014	2	1	101	1	0	0	0	0	0	0	0	1	7427	991	35	2		2	HSD17B4	5	118867014	Silent	SNP	G	TCGA-DU-7008-01A-11D-2024-08		118867014	62048246	8	20078											
GNPDA1	10007	broad.mit.edu	37	5	141381656	141381656	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-7008-01A-11D-2024-08	TCGA-DU-7008-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c15983e-ae64-402f-908c-72a55f792e06	1b8094fc-ab39-4fd4-bf93-6cc777c62e61	g.chr5:141381656A>G	ENST00000508177.1	-	6	1566	c.808T>C	c.(808-810)Tac>Cac	p.Y270H	GNPDA1_ENST00000513454.1_Intron|GNPDA1_ENST00000500692.2_Missense_Mutation_p.Y270H|GNPDA1_ENST00000311337.6_Missense_Mutation_p.Y270H|GNPDA1_ENST00000542860.1_Missense_Mutation_p.Y193H|GNPDA1_ENST00000503794.1_Missense_Mutation_p.Y270H|GNPDA1_ENST00000458112.2_Missense_Mutation_p.Y236H			P46926	GNPI1_HUMAN	glucosamine-6-phosphate deaminase 1	270					generation of precursor metabolites and energy|glucosamine catabolic process|N-acetylglucosamine metabolic process|single fertilization	cytoplasm	glucosamine-6-phosphate deaminase activity|hydrolase activity			central_nervous_system(1)|lung(1)|skin(3)|stomach(1)	6		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTGATACTGTACAAGGGGTCC	0.388													12	33					0	0	0.105934	0	0	G	141381656	A	G	141381656	3	3	101	1	0	0	0	0	1	0	0	0	6584	391	14	3	65	3	GNPDA1	5	141381656	Missense_Mutation	SNP	A	TCGA-DU-7008-01A-11D-2024-08	22514642	141381656	39533604	9	20079											
FAT2	2196	broad.mit.edu	37	5	150925553	150925553	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-7008-01A-11D-2024-08	TCGA-DU-7008-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c15983e-ae64-402f-908c-72a55f792e06	1b8094fc-ab39-4fd4-bf93-6cc777c62e61	g.chr5:150925553A>G	ENST00000261800.5	-	9	5147	c.5135T>C	c.(5134-5136)aTt>aCt	p.I1712T		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	1712	Cadherin 15.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTGGGTGGAAATAAGGCCAGA	0.443													68	64					0	0	0.139131	0	0	G	150925553	A	G	150925553	3	3	101	1	0	0	0	0	1	0	0	0	5723	101	4	3	7974	3	FAT2	5	150925553	Missense_Mutation	SNP	A	TCGA-DU-7008-01A-11D-2024-08	9543897	150925553	29989707	10	20080											
TIMD4	91937	broad.mit.edu	37	5	156349194	156349194	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-7008-01A-11D-2024-08	TCGA-DU-7008-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c15983e-ae64-402f-908c-72a55f792e06	1b8094fc-ab39-4fd4-bf93-6cc777c62e61	g.chr5:156349194T>A	ENST00000274532.2	-	7	984	c.928A>T	c.(928-930)Atg>Ttg	p.M310L	TIMD4_ENST00000407087.3_Missense_Mutation_p.M282L|TIMD4_ENST00000406964.1_Missense_Mutation_p.M12L	NM_138379.2	NP_612388.2	Q96H15	TIMD4_HUMAN	T-cell immunoglobulin and mucin domain containing 4	310						integral to membrane				NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2)	37	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GAGATGGGCATTTCATTCTTC	0.517													5	64					0	0	0.02938	0	0	A	156349194	T	A	156349194	3	1	101	1	0	0	0	0	1	0	0	0	15963	1493	52	4	220	4	TIMD4	5	156349194	Missense_Mutation	SNP	T	TCGA-DU-7008-01A-11D-2024-08	5423641	156349194	24566066	11	20081											
KLHDC3	116138	broad.mit.edu	37	6	42986679	42986679	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7008-01A-11D-2024-08	TCGA-DU-7008-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c15983e-ae64-402f-908c-72a55f792e06	1b8094fc-ab39-4fd4-bf93-6cc777c62e61	g.chr6:42986679G>A	ENST00000326974.4	+	8	1094	c.899G>A	c.(898-900)gGt>gAt	p.G300D	KLHDC3_ENST00000244670.8_Missense_Mutation_p.G166D|KLHDC3_ENST00000332245.8_Missense_Mutation_p.G241D	NM_057161.3	NP_476502.1	Q9BQ90	KLDC3_HUMAN	kelch domain containing 3	300					reciprocal meiotic recombination	cytoplasm|nuclear chromatin	chromatin binding|protein binding			cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	9			Colorectal(64;0.00237)|all cancers(41;0.0034)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0539)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			TGTATTGTTGGTGACAAGATT	0.512													7	117					0	0	0.047766	0	0	A	42986679	G	A	42986679	3	1	101	1	0	0	0	0	1	0	0	0	8400	1261	44	2	925	2	KLHDC3	6	42986679	Missense_Mutation	SNP	G	TCGA-DU-7008-01A-11D-2024-08		42986679	128128388	12	20082											
OR9A2	135924	broad.mit.edu	37	7	142723665	142723665	+	Silent	SNP	G	G	A			TCGA-DU-7008-01A-11D-2024-08	TCGA-DU-7008-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c15983e-ae64-402f-908c-72a55f792e06	1b8094fc-ab39-4fd4-bf93-6cc777c62e61	g.chr7:142723665G>A	ENST00000350513.2	-	1	617	c.555C>T	c.(553-555)tgC>tgT	p.C185C		NM_001001658.1	NP_001001658.1	Q8NGT5	OR9A2_HUMAN	olfactory receptor, family 9, subfamily A, member 2	185					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(3)|endometrium(4)|large_intestine(1)|lung(14)|skin(3)	25	Melanoma(164;0.059)					GAGTGTTATCGCAGGACAGTT	0.393													48	185					0	0	0.139131	0	0	A	142723665	G	A	142723665	2	1	101	1	0	0	0	0	0	0	0	1	11295	1079	38	1		1	OR9A2	7	142723665	Silent	SNP	G	TCGA-DU-7008-01A-11D-2024-08		142723665	16414998	13	20083											
TNFRSF10D	8793	broad.mit.edu	37	8	23004486	23004486	+	Missense_Mutation	SNP	G	G	A	rs149074636	byFrequency	TCGA-DU-7008-01A-11D-2024-08	TCGA-DU-7008-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c15983e-ae64-402f-908c-72a55f792e06	1b8094fc-ab39-4fd4-bf93-6cc777c62e61	g.chr8:23004486G>A	ENST00000312584.3	-	4	564	c.470C>T	c.(469-471)aCg>aTg	p.T157M		NM_003840.4	NP_003831.2	Q9UBN6	TR10D_HUMAN	tumor necrosis factor receptor superfamily, member 10d, decoy with truncated death domain	157					anti-apoptosis|apoptosis	integral to membrane	TRAIL binding|transmembrane receptor activity			endometrium(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9		Prostate(55;0.0421)|Breast(100;0.067)		Colorectal(74;0.0147)|COAD - Colon adenocarcinoma(73;0.0612)		TGTTCTACACGTCCGGCACAT	0.507													5	100					0	0	0.014758	0	0	A	23004486	G	A	23004486	3	1	101	1	0	0	0	0	1	0	0	0	16343	1145	40	1	714	1	TNFRSF10D	8	23004486	Missense_Mutation	SNP	G	TCGA-DU-7008-01A-11D-2024-08		23004486	123359536	14	20084											
FGD3	89846	broad.mit.edu	37	9	95795123	95795123	+	Silent	SNP	C	C	T			TCGA-DU-7008-01A-11D-2024-08	TCGA-DU-7008-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c15983e-ae64-402f-908c-72a55f792e06	1b8094fc-ab39-4fd4-bf93-6cc777c62e61	g.chr9:95795123C>T	ENST00000375482.3	+	16	2249	c.1753C>T	c.(1753-1755)Ctg>Ttg	p.L585L	FGD3_ENST00000337352.6_Silent_p.L585L|FGD3_ENST00000416701.2_Silent_p.L585L|FGD3_ENST00000538555.1_Silent_p.L188L	NM_001083536.1	NP_001077005.1	Q5JSP0	FGD3_HUMAN	FYVE, RhoGEF and PH domain containing 3	585					actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1)	17						AGATTGTTTCCTGACACAGCC	0.637													6	119					0	0	0.02938	0	0	T	95795123	C	T	95795123	2	4	101	1	0	0	0	0	0	0	0	1	5867	680	24	2		2	FGD3	9	95795123	Silent	SNP	C	TCGA-DU-7008-01A-11D-2024-08		95795123	45418308	15	20085											
GTPBP4	23560	broad.mit.edu	37	10	1061799	1061799	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7008-01A-11D-2024-08	TCGA-DU-7008-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c15983e-ae64-402f-908c-72a55f792e06	1b8094fc-ab39-4fd4-bf93-6cc777c62e61	g.chr10:1061799G>A	ENST00000360803.4	+	16	1797	c.1715G>A	c.(1714-1716)cGa>cAa	p.R572Q	GTPBP4_ENST00000545048.1_Missense_Mutation_p.R525Q|GTPBP4_ENST00000538293.1_Missense_Mutation_p.R456Q	NM_012341.2	NP_036473.2	Q9BZE4	NOG1_HUMAN	GTP binding protein 4	572					negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of collagen binding|negative regulation of DNA replication|negative regulation of protein ubiquitination|protein stabilization|regulation of cyclin-dependent protein kinase activity|ribosome biogenesis	nucleolus|perinuclear region of cytoplasm	GTP binding|GTPase activity|protein binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(1)	21		all_epithelial(10;0.107)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.0814)	Epithelial(11;0.0513)|all cancers(11;0.135)|OV - Ovarian serous cystadenocarcinoma(14;0.173)		AGTTGCTCTCGAACTCCACGT	0.507													10	191					0	0	0.058154	0	0	A	1061799	G	A	1061799	3	1	101	1	0	0	0	0	1	0	0	0	6923	1058	37	1	1777	1	GTPBP4	10	1061799	Missense_Mutation	SNP	G	TCGA-DU-7008-01A-11D-2024-08		1061799	134472948	16	20086											
CPEB3	22849	broad.mit.edu	37	10	93999920	93999920	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DU-7008-01A-11D-2024-08	TCGA-DU-7008-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c15983e-ae64-402f-908c-72a55f792e06	1b8094fc-ab39-4fd4-bf93-6cc777c62e61	g.chr10:93999920delG	ENST00000412050.4	-	2	276	c.188delC	c.(187-189)ccgfs	p.P63fs	CPEB3_ENST00000265997.4_Frame_Shift_Del_p.P63fs	NM_001178137.1	NP_001171608.1	Q8NE35	CPEB3_HUMAN	cytoplasmic polyadenylation element binding protein 3	63	Pro-rich.						nucleotide binding|RNA binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(2)	18		Colorectal(252;0.0869)				GTTGGGGGCCGGGGGGGCAGC	0.692													2	4	---	---	---	---						-	93999920	G	-	93999920	7	5	101	1	0	1	0	1	0	0	0	0	3825	1116	39	0	1971	0	CPEB3	10	93999920	Frame_Shift_Del	DEL	G	TCGA-DU-7008-01A-11D-2024-08	92938121	93999920	41534827	17	20087											
PC	5091	broad.mit.edu	37	11	66636386	66636386	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7008-01A-11D-2024-08	TCGA-DU-7008-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c15983e-ae64-402f-908c-72a55f792e06	1b8094fc-ab39-4fd4-bf93-6cc777c62e61	g.chr11:66636386C>T	ENST00000393960.1	-	10	1234	c.953G>A	c.(952-954)gGc>gAc	p.G318D	PC_ENST00000355677.3_Missense_Mutation_p.G318D|PC_ENST00000524491.1_Missense_Mutation_p.G278D|PC_ENST00000393958.2_Missense_Mutation_p.G318D|PC_ENST00000393955.2_Missense_Mutation_p.G318D	NM_001040716.1	NP_001035806.1	P11498	PYC_HUMAN	pyruvate carboxylase	318	ATP-grasp.|Biotin carboxylation.				gluconeogenesis|lipid biosynthetic process	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity			cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)	GTAGTGCTTGCCGTGCCTGTC	0.677													32	40					0	0	0.050027	0	0	T	66636386	C	T	66636386	3	4	101	1	0	0	0	0	1	0	0	0	11544	739	26	2	2639	2	PC	11	66636386	Missense_Mutation	SNP	C	TCGA-DU-7008-01A-11D-2024-08		66636386	68370130	18	20088											
NUMA1	4926	broad.mit.edu	37	11	71718269	71718269	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7008-01A-11D-2024-08	TCGA-DU-7008-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c15983e-ae64-402f-908c-72a55f792e06	1b8094fc-ab39-4fd4-bf93-6cc777c62e61	g.chr11:71718269C>T	ENST00000393695.3	-	21	5760	c.5429G>A	c.(5428-5430)cGc>cAc	p.R1810H	NUMA1_ENST00000351960.6_Missense_Mutation_p.R674H|NUMA1_ENST00000358965.6_Missense_Mutation_p.R1796H	NM_006185.2	NP_006176.2	Q14980	NUMA1_HUMAN	nuclear mitotic apparatus protein 1	1810					G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						CTGCGTGGTGCGCCGACGAGC	0.632			T	RARA	APL								3	22					0	0	0.014758	0	0	T	71718269	C	T	71718269	3	4	101	1	0	0	0	0	1	0	0	0	10798	768	27	1	946	1	NUMA1	11	71718269	Missense_Mutation	SNP	C	TCGA-DU-7008-01A-11D-2024-08	5081883	71718269	63288247	19	20089											
DLG2	1740	broad.mit.edu	37	11	83676479	83676479	+	Translation_Start_Site	SNP	G	G	A			TCGA-DU-7008-01A-11D-2024-08	TCGA-DU-7008-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c15983e-ae64-402f-908c-72a55f792e06	1b8094fc-ab39-4fd4-bf93-6cc777c62e61	g.chr11:83676479G>A	ENST00000376106.3	-	0	607				DLG2_ENST00000524982.1_Silent_p.H258H|DLG2_ENST00000537455.1_Silent_p.H12H|DLG2_ENST00000280241.8_Silent_p.H297H|DLG2_ENST00000543673.1_Silent_p.H363H|DLG2_ENST00000398301.2_Silent_p.H297H|DLG2_ENST00000330014.6_Silent_p.H197H|DLG2_ENST00000398309.2_Silent_p.H258H|DLG2_ENST00000531015.1_Silent_p.H225H|DLG2_ENST00000376104.2_Silent_p.H363H|DLG2_ENST00000418306.2_Silent_p.H207H|DLG2_ENST00000532653.1_Silent_p.H258H			Q15700	DLG2_HUMAN	discs, large homolog 2 (Drosophila)							cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				CTGCCTCTTCGTGTGTTACTT	0.353													20	147					0	0	0.062417	0	0	A	83676479	G	A	83676479	1	1	101	1	0	0	0	0	0	0	0	0	4583	1136	40	1		1	DLG2	11	83676479	Translation_Start_Site	SNP	G	TCGA-DU-7008-01A-11D-2024-08	11958210	83676479	51330037	20	20090											
NFRKB	4798	broad.mit.edu	37	11	129739825	129739825	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7008-01A-11D-2024-08	TCGA-DU-7008-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c15983e-ae64-402f-908c-72a55f792e06	1b8094fc-ab39-4fd4-bf93-6cc777c62e61	g.chr11:129739825G>A	ENST00000446488.3	-	23	3198	c.3095C>T	c.(3094-3096)cCt>cTt	p.P1032L	NFRKB_ENST00000524746.1_Missense_Mutation_p.P1032L|NFRKB_ENST00000304521.5_Missense_Mutation_p.P1032L|NFRKB_ENST00000524794.1_Missense_Mutation_p.P1057L	NM_001143835.1	NP_001137307.1	Q6P4R8	NFRKB_HUMAN	nuclear factor related to kappaB binding protein	1032					DNA recombination|DNA repair|inflammatory response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Ino80 complex	DNA binding|protease binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(13)|ovary(4)|skin(3)|urinary_tract(1)	32	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184)		AGTGGATGAAGGGGCACTGGC	0.542													6	69					0	0	0.021553	0	0	A	129739825	G	A	129739825	3	1	101	1	0	0	0	0	1	0	0	0	10431	1000	35	2	820	2	NFRKB	11	129739825	Missense_Mutation	SNP	G	TCGA-DU-7008-01A-11D-2024-08	46063346	129739825	5266691	21	20091											
PPHLN1	51535	broad.mit.edu	37	12	42835164	42835164	+	Silent	SNP	G	G	A			TCGA-DU-7008-01A-11D-2024-08	TCGA-DU-7008-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c15983e-ae64-402f-908c-72a55f792e06	1b8094fc-ab39-4fd4-bf93-6cc777c62e61	g.chr12:42835164G>A	ENST00000432191.2	+	9	864	c.792G>A	c.(790-792)ctG>ctA	p.L264L	PPHLN1_ENST00000395568.2_Silent_p.L319L|PPHLN1_ENST00000552761.1_Silent_p.L271L|PPHLN1_ENST00000358314.7_Silent_p.L319L|PPHLN1_ENST00000317560.9_Silent_p.L252L|PPHLN1_ENST00000449194.2_Silent_p.L300L|PPHLN1_ENST00000256678.8_Silent_p.L199L|PPHLN1_ENST00000395580.3_Silent_p.L326L|PPHLN1_ENST00000337898.6_Silent_p.L264L|PPHLN1_ENST00000549190.1_Silent_p.L337L	NM_001143787.1	NP_001137259.1	Q8NEY8	PPHLN_HUMAN	periphilin 1	319					keratinization	cytoplasm|nucleus				breast(5)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	16	all_cancers(12;0.00049)|Breast(8;0.165)	Lung NSC(34;0.123)		GBM - Glioblastoma multiforme(48;0.0875)		TGAAAATGCTGATTGAAAAAG	0.368													7	107					0	0	0.047766	0	0	A	42835164	G	A	42835164	2	1	101	1	0	0	0	0	0	0	0	1	12360	1277	45	2		2	PPHLN1	12	42835164	Silent	SNP	G	TCGA-DU-7008-01A-11D-2024-08		42835164	91016731	22	20092											
PPP4R4	57718	broad.mit.edu	37	14	94674875	94674875	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7008-01A-11D-2024-08	TCGA-DU-7008-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c15983e-ae64-402f-908c-72a55f792e06	1b8094fc-ab39-4fd4-bf93-6cc777c62e61	g.chr14:94674875C>T	ENST00000304338.3	+	3	420	c.266C>T	c.(265-267)aCg>aTg	p.T89M	PPP4R4_ENST00000555690.1_3'UTR|PPP4R4_ENST00000328839.3_Missense_Mutation_p.T89M	NM_058237.1	NP_478144.1	Q6NUP7	PP4R4_HUMAN	protein phosphatase 4, regulatory subunit 4	89						cytoplasm|protein serine/threonine phosphatase complex	protein binding	p.T89M(1)		NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2)	40						CCCACTGAGACGCTTCGGAGA	0.388													3	35					0	0	0.009096	0	0	T	94674875	C	T	94674875	3	4	101	1	0	0	0	0	1	0	0	0	12454	536	19	1	276	1	PPP4R4	14	94674875	Missense_Mutation	SNP	C	TCGA-DU-7008-01A-11D-2024-08		94674875	12674665	23	20093											
TP53	7157	broad.mit.edu	37	17	7577129	7577129	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-7008-01A-11D-2024-08	TCGA-DU-7008-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c15983e-ae64-402f-908c-72a55f792e06	1b8094fc-ab39-4fd4-bf93-6cc777c62e61	g.chr17:7577129A>G	ENST00000420246.2	-	8	941	c.809T>C	c.(808-810)tTt>tCt	p.F270S	TP53_ENST00000359597.4_Missense_Mutation_p.F270S|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.F270S|TP53_ENST00000445888.2_Missense_Mutation_p.F270S|TP53_ENST00000269305.4_Missense_Mutation_p.F270S	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	270	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		F -> C (in sporadic cancers; somatic mutation).|F -> I (in sporadic cancers; somatic mutation).|F -> L (in sporadic cancers; somatic mutation).|F -> S (in sporadic cancers; somatic mutation).|F -> V (in sporadic cancers; somatic mutation).|F -> Y (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.F270C(15)|p.0?(8)|p.F270S(8)|p.F270Y(5)|p.?(2)|p.G266_E271delGRNSFE(2)|p.G262_F270delGNLLGRNSF(2)|p.F270fs*72(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.S269fs*34(1)|p.F270_D281del12(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)		ACGCACCTCAAAGCTGTTCCG	0.537		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)			8	11					0	0	0.038147	0	0	G	7577129	A	G	7577129	3	3	101	1	0	0	0	0	1	0	0	0	16442	14	1	3	477	3	TP53	17	7577129	Missense_Mutation	SNP	A	TCGA-DU-7008-01A-11D-2024-08		7577129	73618081	24	20094											
SMARCA4	6597	broad.mit.edu	37	19	11144096	11144098	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-DU-7008-01A-11D-2024-08	TCGA-DU-7008-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c15983e-ae64-402f-908c-72a55f792e06	1b8094fc-ab39-4fd4-bf93-6cc777c62e61	g.chr19:11144096_11144098delAGA	ENST00000358026.2	+	26	3961_3963	c.3677_3679delAGA	c.(3676-3681)cagaag>cag	p.K1227del	SMARCA4_ENST00000450717.3_In_Frame_Del_p.K1227del|SMARCA4_ENST00000429416.3_In_Frame_Del_p.K1227del|SMARCA4_ENST00000590574.1_In_Frame_Del_p.K1227del|SMARCA4_ENST00000413806.3_In_Frame_Del_p.K1227del|SMARCA4_ENST00000344626.4_In_Frame_Del_p.K1227del|SMARCA4_ENST00000589677.1_In_Frame_Del_p.K1227del|SMARCA4_ENST00000541122.2_In_Frame_Del_p.K1227del|SMARCA4_ENST00000444061.3_In_Frame_Del_p.K1227del	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	1227	Helicase C-terminal.				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				AACGTGGACCAGAAGGTGATCCA	0.616			"F, N, Mis"		NSCLC								48	104	---	---	---	---						-	11144098	AGA	-	11144096	7	5	101	1	0	1	0	1	0	0	0	0	14824	188	7	0	3775	0	SMARCA4	19	11144096	In_Frame_Del	DEL	AGA	TCGA-DU-7008-01A-11D-2024-08		11144096	47984887	25	20095											
ZNF791	163049	broad.mit.edu	37	19	12739849	12739849	+	Silent	SNP	G	G	T			TCGA-DU-7008-01A-11D-2024-08	TCGA-DU-7008-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c15983e-ae64-402f-908c-72a55f792e06	1b8094fc-ab39-4fd4-bf93-6cc777c62e61	g.chr19:12739849G>T	ENST00000343325.4	+	4	1668	c.1506G>T	c.(1504-1506)ggG>ggT	p.G502G	ZNF791_ENST00000446165.1_3'UTR|ZNF791_ENST00000540038.1_Silent_p.G393G|ZNF791_ENST00000458122.3_Silent_p.G470G|ZNF490_ENST00000465656.1_Intron	NM_153358.2	NP_699189.2	Q3KP31	ZN791_HUMAN	zinc finger protein 791	502					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)	19						AGGAATGCGGGAAGGCCTTTA	0.388													41	58					1.49673e-21	1.78957e-21	0.086207	1	0	T	12739849	G	T	12739849	2	4	101	1	0	0	0	0	0	0	0	1	18212	1161	41	5		5	ZNF791	19	12739849	Silent	SNP	G	TCGA-DU-7008-01A-11D-2024-08	1595753	12739849	46389134	26	20096											
RAB8A	4218	broad.mit.edu	37	19	16238875	16238875	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7008-01A-11D-2024-08	TCGA-DU-7008-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c15983e-ae64-402f-908c-72a55f792e06	1b8094fc-ab39-4fd4-bf93-6cc777c62e61	g.chr19:16238875G>A	ENST00000300935.3	+	6	727	c.454G>A	c.(454-456)Gcg>Acg	p.A152T	CTD-2231E14.8_ENST00000597983.1_RNA|RAB8A_ENST00000586682.1_Missense_Mutation_p.A152T	NM_005370.4	NP_005361.2	P61006	RAB8A_HUMAN	RAB8A, member RAS oncogene family	152					cilium assembly|Golgi vesicle fusion to target membrane|protein transport|small GTPase mediated signal transduction|vesicle docking involved in exocytosis	Golgi apparatus|nonmotile primary cilium|perinuclear region of cytoplasm|plasma membrane	GTP binding|protein binding			endometrium(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)	8						GGAGACCAGCGCGAAGGCCAA	0.617													3	30					0	0	0.115264	0	0	A	16238875	G	A	16238875	3	1	101	1	0	0	0	0	1	0	0	0	13008	1087	38	1	476	1	RAB8A	19	16238875	Missense_Mutation	SNP	G	TCGA-DU-7008-01A-11D-2024-08	3499026	16238875	42890108	27	20097											
ZNF571	51276	broad.mit.edu	37	19	38055540	38055540	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7008-01A-11D-2024-08	TCGA-DU-7008-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c15983e-ae64-402f-908c-72a55f792e06	1b8094fc-ab39-4fd4-bf93-6cc777c62e61	g.chr19:38055540C>T	ENST00000328550.2	-	4	1889	c.1790G>A	c.(1789-1791)tGt>tAt	p.C597Y	ZNF540_ENST00000592533.1_Intron|ZNF571_ENST00000358744.3_Missense_Mutation_p.C597Y|ZNF571_ENST00000451802.2_Missense_Mutation_p.C597Y|ZNF571-AS1_ENST00000586013.1_RNA|ZNF571-AS1_ENST00000590838.1_RNA|ZNF571-AS1_ENST00000587121.1_RNA|ZNF571-AS1_ENST00000592392.1_RNA|ZNF571_ENST00000593133.1_Missense_Mutation_p.C597Y|ZNF571-AS1_ENST00000589802.1_RNA|ZNF571_ENST00000590751.1_Intron|ZNF571-AS1_ENST00000586139.1_RNA|ZNF571-AS1_ENST00000585578.1_RNA|ZNF571-AS1_ENST00000591430.1_RNA|ZNF571-AS1_ENST00000589750.1_RNA			Q7Z3V5	ZN571_HUMAN	zinc finger protein 571	597					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	25			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TTGTGAAGGACATCTAAAGTC	0.373													11	27					0	0	0.080935	0	0	T	38055540	C	T	38055540	3	4	101	1	0	0	0	0	1	0	0	0	18060	478	17	2	43	2	ZNF571	19	38055540	Missense_Mutation	SNP	C	TCGA-DU-7008-01A-11D-2024-08	21816665	38055540	21073443	28	20098											
IL4I1	259307	broad.mit.edu	37	19	50394683	50394685	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-DU-7008-01A-11D-2024-08	TCGA-DU-7008-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c15983e-ae64-402f-908c-72a55f792e06	1b8094fc-ab39-4fd4-bf93-6cc777c62e61	g.chr19:50394683_50394685delCTT	ENST00000595948.1	-	8	1299_1301	c.679_681delAAG	c.(679-681)aagdel	p.K227del	IL4I1_ENST00000391826.2_In_Frame_Del_p.K205del|IL4I1_ENST00000341114.3_In_Frame_Del_p.K227del	NM_001258018.1	NP_001244947.1	Q96RQ9	OXLA_HUMAN	interleukin 4 induced 1	205						lysosome	L-amino-acid oxidase activity			endometrium(3)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	16		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00245)|OV - Ovarian serous cystadenocarcinoma(262;0.0169)		GCCTTTCAAACTTCTTCATCGCC	0.571													22	105	---	---	---	---						-	50394685	CTT	-	50394683	7	5	101	1	0	1	0	1	0	0	0	0	7741	564	20	0	1100	0	IL4I1	19	50394683	In_Frame_Del	DEL	CTT	TCGA-DU-7008-01A-11D-2024-08	12339143	50394683	8734300	29	20099											
PPP1R16B	26051	broad.mit.edu	37	20	37536526	37536526	+	Silent	SNP	C	C	T			TCGA-DU-7008-01A-11D-2024-08	TCGA-DU-7008-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c15983e-ae64-402f-908c-72a55f792e06	1b8094fc-ab39-4fd4-bf93-6cc777c62e61	g.chr20:37536526C>T	ENST00000299824.1	+	9	1165	c.976C>T	c.(976-978)Ctg>Ttg	p.L326L	PPP1R16B_ENST00000373331.2_Silent_p.L284L	NM_015568.2	NP_056383.1	Q96T49	PP16B_HUMAN	protein phosphatase 1, regulatory subunit 16B	326					regulation of filopodium assembly|signal transduction	nucleus|plasma membrane	protein phosphatase binding			biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	49		Myeloproliferative disorder(115;0.00878)				GAAGTCACAGCTGAGGCACAA	0.592													17	41					0	0	0.038395	0	0	T	37536526	C	T	37536526	2	4	101	1	0	0	0	0	0	0	0	1	12415	796	28	2		2	PPP1R16B	20	37536526	Silent	SNP	C	TCGA-DU-7008-01A-11D-2024-08		37536526	25488994	30	20100											
LMF2	91289	broad.mit.edu	37	22	50944111	50944111	+	Missense_Mutation	SNP	G	G	A	rs149785243		TCGA-DU-7008-01A-11D-2024-08	TCGA-DU-7008-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c15983e-ae64-402f-908c-72a55f792e06	1b8094fc-ab39-4fd4-bf93-6cc777c62e61	g.chr22:50944111G>A	ENST00000216080.5	-	6	1001	c.833C>T	c.(832-834)aCg>aTg	p.T278M	LMF2_ENST00000380796.3_Missense_Mutation_p.T303M|LMF2_ENST00000474879.2_Missense_Mutation_p.T303M			Q9BU23	LMF2_HUMAN	lipase maturation factor 2	303						endoplasmic reticulum membrane|integral to membrane				breast(1)|cervix(1)|kidney(1)|lung(4)|prostate(1)|skin(2)	10		all_cancers(38;1.31e-09)|all_epithelial(38;1.81e-08)|all_lung(38;0.000817)|Breast(42;0.00387)|Lung NSC(38;0.0124)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		ACAGGTGGCCGTCTTCTTGCG	0.642													16	26					0	0	0.038395	0	0	A	50944111	G	A	50944111	3	1	101	1	0	0	0	0	1	0	0	0	8887	1145	40	1	1251	1	LMF2	22	50944111	Missense_Mutation	SNP	G	TCGA-DU-7008-01A-11D-2024-08		50944111	360455	31	20101											
XK	7504	broad.mit.edu	37	X	37587096	37587096	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-7008-01A-11D-2024-08	TCGA-DU-7008-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c15983e-ae64-402f-908c-72a55f792e06	1b8094fc-ab39-4fd4-bf93-6cc777c62e61	g.chrX:37587096T>A	ENST00000378616.3	+	3	919	c.716T>A	c.(715-717)gTt>gAt	p.V239D	TM4SF2_ENST00000465127.1_Intron	NM_021083.2	NP_066569.1	P51811	XK_HUMAN	X-linked Kx blood group (McLeod syndrome)	239					amino acid transport	integral to membrane	protein binding|transporter activity			breast(1)|endometrium(4)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	15		all_lung(315;0.175)				TGGGTGGTGGTTATAATACTC	0.498													13	27					0	0	0.09319	0	0	A	37587096	T	A	37587096	3	1	101	1	0	0	0	0	1	0	0	0	17491	1725	60	5	726	5	XK	23	37587096	Missense_Mutation	SNP	T	TCGA-DU-7008-01A-11D-2024-08		37587096	117683464	32	20102											
USP11	8237	broad.mit.edu	37	X	47101045	47101045	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7008-01A-11D-2024-08	TCGA-DU-7008-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c15983e-ae64-402f-908c-72a55f792e06	1b8094fc-ab39-4fd4-bf93-6cc777c62e61	g.chrX:47101045G>A	ENST00000377107.2	+	9	1480	c.1126G>A	c.(1126-1128)Gtg>Atg	p.V376M	USP11_ENST00000218348.3_Missense_Mutation_p.V419M			P51784	UBP11_HUMAN	ubiquitin specific peptidase 11	419					protein deubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|ovary(3)|pancreas(1)|stomach(1)	40						CCTTAATCGGGTGAAGAAGAA	0.557													36	25					0	0	0.054565	0	0	A	47101045	G	A	47101045	3	1	101	1	0	0	0	0	1	0	0	0	17102	1261	44	2	1289	2	USP11	23	47101045	Missense_Mutation	SNP	G	TCGA-DU-7008-01A-11D-2024-08	9513949	47101045	108169515	33	20103											
SSX1	6756	broad.mit.edu	37	X	48116711	48116711	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-7008-01A-11D-2024-08	TCGA-DU-7008-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c15983e-ae64-402f-908c-72a55f792e06	1b8094fc-ab39-4fd4-bf93-6cc777c62e61	g.chrX:48116711G>T	ENST00000376919.3	+	2	171	c.35G>T	c.(34-36)aGg>aTg	p.R12M		NM_001278691.1|NM_005635.2	NP_001265620.1|NP_005626.1	Q16384	SSX1_HUMAN	synovial sarcoma, X breakpoint 1	12					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|transcription corepressor activity		SS18/SSX1(1169)|SS18L1/SSX1(2)	endometrium(2)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	9						AAGAGACCCAGGGATGATGCT	0.547			T	SS18	synovial sarcoma								4	64					1.23904e-05	1.31052e-05	0.014758	1	0	T	48116711	G	T	48116711	3	4	101	1	0	0	0	0	1	0	0	0	15259	1000	35	4	37	4	SSX1	23	48116711	Missense_Mutation	SNP	G	TCGA-DU-7008-01A-11D-2024-08	1015666	48116711	107153849	34	20104											
ATRX	546	broad.mit.edu	37	X	76940037	76940038	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DU-7008-01A-11D-2024-08	TCGA-DU-7008-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c15983e-ae64-402f-908c-72a55f792e06	1b8094fc-ab39-4fd4-bf93-6cc777c62e61	g.chrX:76940037_76940038insT	ENST00000373344.5	-	9	924_925	c.710_711insA	c.(709-711)aatfs	p.N237fs	ATRX_ENST00000395603.3_Frame_Shift_Ins_p.N199fs|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	237	ADD.				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)	TGCAGAAAGCATTATGGCAAAA	0.381			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						121	137	---	---	---	---						T	76940038	-	T	76940037	7	5	101	1	0	1	1	0	0	0	0	0	1206	214	8	0	6875	0	ATRX	23	76940037	Frame_Shift_Ins	INS	-	TCGA-DU-7008-01A-11D-2024-08	28823326	76940037	78330523	35	20105											
XKRX	402415	broad.mit.edu	37	X	100169558	100169558	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-7008-01A-11D-2024-08	TCGA-DU-7008-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c15983e-ae64-402f-908c-72a55f792e06	1b8094fc-ab39-4fd4-bf93-6cc777c62e61	g.chrX:100169558T>A	ENST00000328526.5	-	3	1723	c.1158A>T	c.(1156-1158)aaA>aaT	p.K386N	XKRX_ENST00000468904.1_3'UTR|XKRX_ENST00000372956.2_Missense_Mutation_p.K373N	NM_212559.2	NP_997724.2	Q6PP77	XKR2_HUMAN	XK, Kell blood group complex subunit-related, X-linked	373						integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(3)	22						TCAGTAACACTTTCACTCCAA	0.423													97	117					0	0	0.139131	0	0	A	100169558	T	A	100169558	3	1	101	1	0	0	0	0	1	0	0	0	17499	1606	56	5	234	5	XKRX	23	100169558	Missense_Mutation	SNP	T	TCGA-DU-7008-01A-11D-2024-08	23229521	100169558	55101002	36	20106											
PDZD4	57595	broad.mit.edu	37	X	153069774	153069774	+	Silent	SNP	G	G	T			TCGA-DU-7008-01A-11D-2024-08	TCGA-DU-7008-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c15983e-ae64-402f-908c-72a55f792e06	1b8094fc-ab39-4fd4-bf93-6cc777c62e61	g.chrX:153069774G>T	ENST00000164640.4	-	8	1535	c.1344C>A	c.(1342-1344)ccC>ccA	p.P448P	PDZD4_ENST00000393758.2_Silent_p.P373P|PDZD4_ENST00000544474.1_Silent_p.P339P	NM_032512.2	NP_115901.2	Q76G19	PDZD4_HUMAN	PDZ domain containing 4	448						cell cortex				breast(3)|cervix(1)|endometrium(5)|lung(13)|skin(1)	23	all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CGTGCTTCTTGGGCTCGCTGG	0.652													8	41					9.16793e-09	1.05049e-08	0.0333	1	0	T	153069774	G	T	153069774	2	4	101	1	0	0	0	0	0	0	0	1	11750	1335	47	5		5	PDZD4	23	153069774	Silent	SNP	G	TCGA-DU-7008-01A-11D-2024-08	52900216	153069774	2200786	37	20107											
ARID1A	8289	broad.mit.edu	37	1	27106319	27106320	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-DU-7009-01A-11D-2024-08	TCGA-DU-7009-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4853fd17-7214-4f0c-984b-1be0346ca4ab	ebcde902-4750-4e90-b94c-a635aa053ea4	g.chr1:27106319_27106320delTT	ENST00000324856.7	+	20	6301_6302	c.5930_5931delTT	c.(5929-5931)cttfs	p.L1977fs	ARID1A_ENST00000540690.1_Frame_Shift_Del_p.L305fs|ARID1A_ENST00000374152.2_Frame_Shift_Del_p.L1594fs|ARID1A_ENST00000457599.2_Frame_Shift_Del_p.L1760fs	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1977					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CAGGATTCTCTTGCCAAGCGCT	0.545			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"								30	30	---	---	---	---						-	27106320	TT	-	27106319	7	5	102	1	0	1	0	1	0	0	0	0	910	1609	56	0	6008	0	ARID1A	1	27106319	Frame_Shift_Del	DEL	TT	TCGA-DU-7009-01A-11D-2024-08		27106319	222144302	1	20108											
JAK1	3716	broad.mit.edu	37	1	65303662	65303662	+	Silent	SNP	A	A	G	rs17392258		TCGA-DU-7009-01A-11D-2024-08	TCGA-DU-7009-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4853fd17-7214-4f0c-984b-1be0346ca4ab	ebcde902-4750-4e90-b94c-a635aa053ea4	g.chr1:65303662A>G	ENST00000342505.4	-	22	3341	c.3093T>C	c.(3091-3093)gaT>gaC	p.D1031D		NM_002227.2	NP_002218.2	P23458	JAK1_HUMAN	Janus kinase 1	1031	Protein kinase 2.				interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|endomembrane system|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120				BRCA - Breast invasive adenocarcinoma(111;0.0485)		AATACTCCTTATCGGTTTCAA	0.423			Mis		ALL								4	43					0	0	1	0	0	G	65303662	A	G	65303662	2	3	102	1	0	0	0	0	0	0	0	1	7981	446	16	3		3	JAK1	1	65303662	Silent	SNP	A	TCGA-DU-7009-01A-11D-2024-08	38197343	65303662	183946959	2	20109											
EPRS	2058	broad.mit.edu	37	1	220203735	220203735	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-7009-01A-11D-2024-08	TCGA-DU-7009-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4853fd17-7214-4f0c-984b-1be0346ca4ab	ebcde902-4750-4e90-b94c-a635aa053ea4	g.chr1:220203735C>A	ENST00000366923.3	-	6	885	c.616G>T	c.(616-618)Gcc>Tcc	p.A206S		NM_004446.2	NP_004437.2	P07814	SYEP_HUMAN	glutamyl-prolyl-tRNA synthetase	206	Glutamyl-tRNA synthetase.				glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly	cytosol|soluble fraction	ATP binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding|RNA binding			breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3)	63				GBM - Glioblastoma multiforme(131;0.0735)	L-Glutamic Acid(DB00142)|L-Proline(DB00172)	TACCCACTGGCCTCTGGAGGA	0.358													3	46					1	1	1	1	0	A	220203735	C	A	220203735	3	1	102	1	0	0	0	0	1	0	0	0	5219	739	26	5	4030	5	EPRS	1	220203735	Missense_Mutation	SNP	C	TCGA-DU-7009-01A-11D-2024-08	154900073	220203735	29046886	3	20110											
AHCTF1	25909	broad.mit.edu	37	1	247013166	247013167	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DU-7009-01A-11D-2024-08	TCGA-DU-7009-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4853fd17-7214-4f0c-984b-1be0346ca4ab	ebcde902-4750-4e90-b94c-a635aa053ea4	g.chr1:247013166_247013167insT	ENST00000366508.1	-	33	6382_6383	c.6246_6247insA	c.(6244-6249)aaacttfs	p.L2083fs	AHCTF1_ENST00000326225.3_Frame_Shift_Ins_p.L2057fs|AHCTF1_ENST00000391829.2_Frame_Shift_Ins_p.L2048fs|AHCTF1_ENST00000470300.1_5'UTR			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	2048	Necessary for nuclear localization (By similarity).				cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport	condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm	DNA binding			NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			TTTTTTGTAAGTTTTTTCTTAG	0.366													14	98	---	---	---	---						T	247013167	-	T	247013166	7	5	102	1	0	1	1	0	0	0	0	0	405	1029	36	0	674	0	AHCTF1	1	247013166	Frame_Shift_Ins	INS	-	TCGA-DU-7009-01A-11D-2024-08	26809431	247013166	2237455	4	20111											
ATP6V1C2	245973	broad.mit.edu	37	2	10917798	10917798	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7009-01A-11D-2024-08	TCGA-DU-7009-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4853fd17-7214-4f0c-984b-1be0346ca4ab	ebcde902-4750-4e90-b94c-a635aa053ea4	g.chr2:10917798C>T	ENST00000272238.4	+	11	1022	c.913C>T	c.(913-915)Cct>Tct	p.P305S	ATP6V1C2_ENST00000381661.3_Intron	NM_001039362.1	NP_001034451.1	Q8NEY4	VATC2_HUMAN	ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C2	305					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|proton-transporting V-type ATPase, V1 domain				endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.15)|OV - Ovarian serous cystadenocarcinoma(76;0.152)		CCCTGATAGGCCTGCTGCGGG	0.587													30	53					0	0	1	0	0	T	10917798	C	T	10917798	3	4	102	1	0	0	0	0	1	0	0	0	1179	739	26	2	951	2	ATP6V1C2	2	10917798	Missense_Mutation	SNP	C	TCGA-DU-7009-01A-11D-2024-08		10917798	232281575	5	20112											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-DU-7009-01A-11D-2024-08	TCGA-DU-7009-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4853fd17-7214-4f0c-984b-1be0346ca4ab	ebcde902-4750-4e90-b94c-a635aa053ea4	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	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								26	28					0	0	1	0	0	T	209113112	C	T	209113112	3	4	102	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-DU-7009-01A-11D-2024-08	198195314	209113112	34086261	6	20113											
DCTD	1635	broad.mit.edu	37	4	183815663	183815663	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7009-01A-11D-2024-08	TCGA-DU-7009-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4853fd17-7214-4f0c-984b-1be0346ca4ab	ebcde902-4750-4e90-b94c-a635aa053ea4	g.chr4:183815663C>T	ENST00000438320.2	-	4	630	c.340G>A	c.(340-342)Gct>Act	p.A114T	DCTD_ENST00000357067.3_Missense_Mutation_p.A125T|DCTD_ENST00000510370.1_Missense_Mutation_p.A114T	NM_001921.2	NP_001912.2	P32321	DCTD_HUMAN	dCMP deaminase	114					nucleotide biosynthetic process|pyrimidine base metabolic process|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide metabolic process	cytosol	dCMP deaminase activity|zinc ion binding	p.A114T(1)		endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|urinary_tract(1)	18		all_lung(41;5.16e-14)|Lung NSC(41;1.33e-13)|Colorectal(36;0.00666)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.202)		all cancers(43;1.65e-24)|Epithelial(43;3.44e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.39e-10)|Colorectal(24;4.69e-07)|COAD - Colon adenocarcinoma(29;7.07e-05)|STAD - Stomach adenocarcinoma(60;0.000118)|GBM - Glioblastoma multiforme(59;0.000472)|LUSC - Lung squamous cell carcinoma(40;0.00984)|READ - Rectum adenocarcinoma(43;0.0419)		ATGAGCTTAGCGCATTCATTA	0.468													11	22					0	0	1	0	0	T	183815663	C	T	183815663	3	4	102	1	0	0	0	0	1	0	0	0	4328	768	27	1	208	1	DCTD	4	183815663	Missense_Mutation	SNP	C	TCGA-DU-7009-01A-11D-2024-08		183815663	7338613	7	20114											
NIPBL	25836	broad.mit.edu	37	5	36961657	36961657	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-7009-01A-11D-2024-08	TCGA-DU-7009-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4853fd17-7214-4f0c-984b-1be0346ca4ab	ebcde902-4750-4e90-b94c-a635aa053ea4	g.chr5:36961657C>T	ENST00000282516.8	+	5	929	c.430C>T	c.(430-432)Caa>Taa	p.Q144*	NIPBL_ENST00000504430.1_3'UTR|NIPBL_ENST00000448238.2_Nonsense_Mutation_p.Q144*	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	144					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			CAATTATCAACAAACCACTAT	0.338													33	57					0	0	1	0	0	T	36961657	C	T	36961657	4	4	102	1	0	0	0	0	0	1	0	0	10475	479	17	2	444	2	NIPBL	5	36961657	Nonsense_Mutation	SNP	C	TCGA-DU-7009-01A-11D-2024-08		36961657	143953603	8	20115											
SLC22A5	6584	broad.mit.edu	37	5	131722739	131722739	+	Missense_Mutation	SNP	T	T	G	rs72552729		TCGA-DU-7009-01A-11D-2024-08	TCGA-DU-7009-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4853fd17-7214-4f0c-984b-1be0346ca4ab	ebcde902-4750-4e90-b94c-a635aa053ea4	g.chr5:131722739T>G	ENST00000245407.3	+	5	1068	c.847T>G	c.(847-849)Tgg>Ggg	p.W283G	SLC22A5_ENST00000435065.2_Missense_Mutation_p.W307G	NM_003060.3	NP_003051.1	O76082	S22A5_HUMAN	solute carrier family 22 (organic cation/carnitine transporter), member 5	283			W -> C (in CDSP; reduces L-carnitine uptake).|W -> R (in CDSP).		positive regulation of intestinal epithelial structure maintenance|quorum sensing involved in interaction with host|sodium ion transport|sodium-dependent organic cation transport	apical plasma membrane|brush border membrane|integral to membrane	ATP binding|carnitine transporter activity|PDZ domain binding|symporter activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|stomach(1)	8		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		L-Carnitine(DB00583)	GTCCCCCCGATGGCTCATCTC	0.557											OREG0016767	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	78	137					0	0	1	0	0	G	131722739	T	G	131722739	3	3	102	1	0	0	0	0	1	0	0	0	14512	1464	51	4	865	4	SLC22A5	5	131722739	Missense_Mutation	SNP	T	TCGA-DU-7009-01A-11D-2024-08	94761082	131722739	49192521	9	20116											
THBS2	7058	broad.mit.edu	37	6	169621604	169621604	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7009-01A-11D-2024-08	TCGA-DU-7009-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4853fd17-7214-4f0c-984b-1be0346ca4ab	ebcde902-4750-4e90-b94c-a635aa053ea4	g.chr6:169621604C>T	ENST00000366787.3	-	21	3541	c.3292G>A	c.(3292-3294)Gac>Aac	p.D1098N	XXyac-YX65C7_A.2_ENST00000444188.1_RNA|THBS2_ENST00000488355.1_5'UTR	NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	1098	TSP C-terminal.				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity			NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		TTCCTGGGGTCGTGCCATAAG	0.562													4	61					0	0	1	0	0	T	169621604	C	T	169621604	3	4	102	1	0	0	0	0	1	0	0	0	15914	884	31	1	238	1	THBS2	6	169621604	Missense_Mutation	SNP	C	TCGA-DU-7009-01A-11D-2024-08		169621604	1493463	10	20117											
PRUNE2	158471	broad.mit.edu	37	9	79324331	79324331	+	Silent	SNP	G	G	A			TCGA-DU-7009-01A-11D-2024-08	TCGA-DU-7009-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4853fd17-7214-4f0c-984b-1be0346ca4ab	ebcde902-4750-4e90-b94c-a635aa053ea4	g.chr9:79324331G>A	ENST00000428286.1	-	8	2982	c.1782C>T	c.(1780-1782)aaC>aaT	p.N594N	PRUNE2_ENST00000376718.3_Silent_p.N953N			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	953					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						CTTCTCCTAGGTTGGATGCAC	0.423													10	127					0	0	1	0	0	A	79324331	G	A	79324331	2	1	102	1	0	0	0	0	0	0	0	1	12690	1252	44	2		2	PRUNE2	9	79324331	Silent	SNP	G	TCGA-DU-7009-01A-11D-2024-08		79324331	61889100	11	20118											
ZMIZ1	57178	broad.mit.edu	37	10	81052015	81052015	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7009-01A-11D-2024-08	TCGA-DU-7009-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4853fd17-7214-4f0c-984b-1be0346ca4ab	ebcde902-4750-4e90-b94c-a635aa053ea4	g.chr10:81052015G>A	ENST00000334512.5	+	11	1431	c.859G>A	c.(859-861)Gca>Aca	p.A287T	ZMIZ1_ENST00000478357.1_3'UTR	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	287	Ala-rich.				transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			tgcagcagcggcagtggcagc	0.652													9	87					0	0	1	0	0	A	81052015	G	A	81052015	3	1	102	1	0	0	0	0	1	0	0	0	17754	1203	42	2	885	2	ZMIZ1	10	81052015	Missense_Mutation	SNP	G	TCGA-DU-7009-01A-11D-2024-08		81052015	54482732	12	20119											
WIF1	11197	broad.mit.edu	37	12	65460426	65460426	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-7009-01A-11D-2024-08	TCGA-DU-7009-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4853fd17-7214-4f0c-984b-1be0346ca4ab	ebcde902-4750-4e90-b94c-a635aa053ea4	g.chr12:65460426T>C	ENST00000286574.4	-	6	1099	c.725A>G	c.(724-726)gAc>gGc	p.D242G		NM_007191.4	NP_009122.2	Q9Y5W5	WIF1_HUMAN	WNT inhibitory factor 1	242	EGF-like 2.				multicellular organismal development|Wnt receptor signaling pathway	extracellular region	protein tyrosine kinase activity			cervix(1)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	21			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0231)		GTTACCTTTGTCACAGTTCAC	0.373			T	HMGA2	pleomorphic salivary gland adenoma								4	29					0	0	1	0	0	C	65460426	T	C	65460426	3	2	102	1	0	0	0	0	1	0	0	0	17426	1667	58	3	434	3	WIF1	12	65460426	Missense_Mutation	SNP	T	TCGA-DU-7009-01A-11D-2024-08		65460426	68391469	13	20120											
ANO4	121601	broad.mit.edu	37	12	101437335	101437335	+	Silent	SNP	T	T	A			TCGA-DU-7009-01A-11D-2024-08	TCGA-DU-7009-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4853fd17-7214-4f0c-984b-1be0346ca4ab	ebcde902-4750-4e90-b94c-a635aa053ea4	g.chr12:101437335T>A	ENST00000392979.3	+	12	1429	c.1068T>A	c.(1066-1068)gcT>gcA	p.A356A	ANO4_ENST00000299222.9_5'UTR|ANO4_ENST00000392977.3_Silent_p.A391A	NM_178826.3	NP_849148.2	Q32M45	ANO4_HUMAN	anoctamin 4	391						chloride channel complex	chloride channel activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						TCTGCCAAGCTACAGATATCA	0.373										HNSCC(74;0.22)			15	36					0	0	1	0	0	A	101437335	T	A	101437335	2	1	102	1	0	0	0	0	0	0	0	1	693	1509	53	5		5	ANO4	12	101437335	Silent	SNP	T	TCGA-DU-7009-01A-11D-2024-08	35976909	101437335	32414560	14	20121											
TBC1D24	57465	broad.mit.edu	37	16	2550805	2550805	+	Splice_Site	SNP	G	G	T			TCGA-DU-7009-01A-11D-2024-08	TCGA-DU-7009-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4853fd17-7214-4f0c-984b-1be0346ca4ab	ebcde902-4750-4e90-b94c-a635aa053ea4	g.chr16:2550805G>T	ENST00000567020.1	+	7	1648	c.1508G>T	c.(1507-1509)gGg>gTg	p.G503V	TBC1D24_ENST00000293970.5_Splice_Site_p.G509V|RP11-20I23.1_ENST00000564543.1_Intron|TBC1D24_ENST00000434757.2_Splice_Site_p.G509V	NM_020705.2	NP_065756.1	Q9ULP9	TBC24_HUMAN	TBC1 domain family, member 24	509	TLD.				neuron projection development	cytoplasm	protein binding|Rab GTPase activator activity			endometrium(2)|kidney(4)|large_intestine(3)|lung(4)	13						CATCCTGCAGGGGGAGGAGGC	0.662													3	16					0.004672	0.0049056	1	1	0	T	2550805	G	T	2550805	5	4	102	1	0	0	0	0	0	0	1	0	15671	1246	43	5	1530	5	TBC1D24	16	2550805	Splice_Site	SNP	G	TCGA-DU-7009-01A-11D-2024-08		2550805	87803948	15	20122											
SRRM2	23524	broad.mit.edu	37	16	2814039	2814039	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-7009-01A-11D-2024-08	TCGA-DU-7009-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4853fd17-7214-4f0c-984b-1be0346ca4ab	ebcde902-4750-4e90-b94c-a635aa053ea4	g.chr16:2814039A>T	ENST00000301740.8	+	11	4059	c.3510A>T	c.(3508-3510)ttA>ttT	p.L1170F		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	1170	Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						AAATGGCCTTACCCCCTCAGG	0.463													45	68					0	0	1	0	0	T	2814039	A	T	2814039	3	4	102	1	0	0	0	0	1	0	0	0	15225	388	14	5	3548	5	SRRM2	16	2814039	Missense_Mutation	SNP	A	TCGA-DU-7009-01A-11D-2024-08	263234	2814039	87540714	16	20123											
SLC47A1	55244	broad.mit.edu	37	17	19459308	19459308	+	Splice_Site	SNP	G	G	A			TCGA-DU-7009-01A-11D-2024-08	TCGA-DU-7009-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4853fd17-7214-4f0c-984b-1be0346ca4ab	ebcde902-4750-4e90-b94c-a635aa053ea4	g.chr17:19459308G>A	ENST00000270570.4	+	10	940	c.854G>A	c.(853-855)gGc>gAc	p.G285D	SLC47A1_ENST00000575023.1_Intron|SLC47A1_ENST00000395585.1_Splice_Site_p.G285D|SLC47A1_ENST00000571335.1_Splice_Site_p.G90D|SLC47A1_ENST00000436810.2_Splice_Site_p.G262D|SLC47A1_ENST00000542886.1_3'UTR|SLC47A1_ENST00000457293.1_Splice_Site_p.G285D	NM_018242.2	NP_060712.2	Q96FL8	S47A1_HUMAN	solute carrier family 47 (multidrug and toxin extrusion), member 1	285						integral to membrane|plasma membrane	drug:hydrogen antiporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(5)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	23	all_cancers(12;2.49e-05)|all_epithelial(12;0.00263)|Hepatocellular(7;0.00345)					TCTTCACCAGGCATCCTCGGC	0.592													3	38					0	0	1	0	0	A	19459308	G	A	19459308	5	1	102	1	0	0	0	0	0	0	1	0	14702	1217	42	2	892	2	SLC47A1	17	19459308	Splice_Site	SNP	G	TCGA-DU-7009-01A-11D-2024-08		19459308	61735902	17	20124											
ALPK2	115701	broad.mit.edu	37	18	56203279	56203279	+	Silent	SNP	T	T	C	rs36075387	byFrequency	TCGA-DU-7009-01A-11D-2024-08	TCGA-DU-7009-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4853fd17-7214-4f0c-984b-1be0346ca4ab	ebcde902-4750-4e90-b94c-a635aa053ea4	g.chr18:56203279T>C	ENST00000361673.3	-	5	4353	c.4140A>G	c.(4138-4140)caA>caG	p.Q1380Q	RP11-1151B14.4_ENST00000591360.1_RNA	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	1380							ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						CCATCTTGAGTTGTTTTTCCT	0.413													4	98					0	0	1	0	0	C	56203279	T	C	56203279	2	2	102	1	0	0	0	0	0	0	0	1	541	1722	60	3		3	ALPK2	18	56203279	Silent	SNP	T	TCGA-DU-7009-01A-11D-2024-08		56203279	21873969	18	20125											
VSX1	30813	broad.mit.edu	37	20	25059381	25059381	+	Silent	SNP	A	A	T	rs56157240	by1000genomes	TCGA-DU-7009-01A-11D-2024-08	TCGA-DU-7009-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4853fd17-7214-4f0c-984b-1be0346ca4ab	ebcde902-4750-4e90-b94c-a635aa053ea4	g.chr20:25059381A>T	ENST00000376707.3	-	3	745	c.711T>A	c.(709-711)ccT>ccA	p.P237P	VSX1_ENST00000429762.3_Intron|VSX1_ENST00000444511.2_Intron|VSX1_ENST00000376709.4_Intron|VSX1_ENST00000424574.1_Intron|VSX1_ENST00000451258.1_Intron	NM_199425.2	NP_955457.1	Q9NZR4	VSX1_HUMAN	visual system homeobox 1	0	CVC.				response to stimulus|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(3)|lung(2)	6						GCTATAGAGAAGGGACTGCTG	0.512													5	110					0	0	1	0	0	T	25059381	A	T	25059381	2	4	102	1	0	0	0	0	0	0	0	1	17291	59	3	5		5	VSX1	20	25059381	Silent	SNP	A	TCGA-DU-7009-01A-11D-2024-08		25059381	37966139	19	20126											
RFPL3	10738	broad.mit.edu	37	22	32754036	32754036	+	Translation_Start_Site	SNP	G	G	A	rs11089557	by1000genomes	TCGA-DU-7009-01A-11D-2024-08	TCGA-DU-7009-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4853fd17-7214-4f0c-984b-1be0346ca4ab	ebcde902-4750-4e90-b94c-a635aa053ea4	g.chr22:32754036G>A	ENST00000249007.4	+	0	183				RFPL3_ENST00000397468.1_Intron	NM_001098535.1	NP_001092005.1	O75679	RFPL3_HUMAN	ret finger protein-like 3								zinc ion binding			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|stomach(1)	15						GAGTGACAAAGCTGGAACACA	0.453													4	109					0	0	1	0	0	A	32754036	G	A	32754036	1	1	102	1	0	0	0	0	0	0	0	0	13307	986	34	2		2	RFPL3	22	32754036	Translation_Start_Site	SNP	G	TCGA-DU-7009-01A-11D-2024-08		32754036	18550530	20	20127											
OGT	8473	broad.mit.edu	37	X	70793627	70793627	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7009-01A-11D-2024-08	TCGA-DU-7009-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4853fd17-7214-4f0c-984b-1be0346ca4ab	ebcde902-4750-4e90-b94c-a635aa053ea4	g.chrX:70793627G>A	ENST00000373719.3	+	22	3341	c.3124G>A	c.(3124-3126)Gtc>Atc	p.V1042I	OGT_ENST00000373701.3_Missense_Mutation_p.V1032I	NM_181672.2|NM_181673.2	NP_858058.1|NP_858059.1	O15294	OGT1_HUMAN	O-linked N-acetylglucosamine (GlcNAc) transferase	1042					cellular response to retinoic acid|positive regulation of granulocyte differentiation|positive regulation of histone H3-K4 methylation|positive regulation of proteolysis|protein O-linked glycosylation|signal transduction	cytosol|MLL5-L complex	enzyme activator activity|protein binding|protein N-acetylglucosaminyltransferase activity			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Renal(35;0.156)					GCCTGTTGAAGTCACTGAGTC	0.443													5	15					0	0	1	0	0	A	70793627	G	A	70793627	3	1	102	1	0	0	0	0	1	0	0	0	10895	1029	36	2	3210	2	OGT	23	70793627	Missense_Mutation	SNP	G	TCGA-DU-7009-01A-11D-2024-08		70793627	84476933	21	20128											
CUL4B	8450	broad.mit.edu	37	X	119708422	119708422	+	Silent	SNP	A	A	G			TCGA-DU-7009-01A-11D-2024-08	TCGA-DU-7009-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4853fd17-7214-4f0c-984b-1be0346ca4ab	ebcde902-4750-4e90-b94c-a635aa053ea4	g.chrX:119708422A>G	ENST00000404115.3	-	2	452	c.51T>C	c.(49-51)acT>acC	p.T17T	CUL4B_ENST00000486604.1_5'UTR	NM_003588.3	NP_003579.3	Q13620	CUL4B_HUMAN	cullin 4B	17	Ser-rich.				cell cycle|DNA repair|ubiquitin-dependent protein catabolic process	Cul4B-RING ubiquitin ligase complex|nucleus	protein binding|ubiquitin protein ligase binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						CTTTAGAGGTAGTAGCCTCAT	0.448													4	110					0	0	1	0	0	G	119708422	A	G	119708422	2	3	102	1	0	0	0	0	0	0	0	1	4081	407	15	3		3	CUL4B	23	119708422	Silent	SNP	A	TCGA-DU-7009-01A-11D-2024-08	48914795	119708422	35562138	22	20129											
GRIA3	2892	broad.mit.edu	37	X	122616848	122616848	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-7009-01A-11D-2024-08	TCGA-DU-7009-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4853fd17-7214-4f0c-984b-1be0346ca4ab	ebcde902-4750-4e90-b94c-a635aa053ea4	g.chrX:122616848T>A	ENST00000264357.5	+	15	2930	c.2638T>A	c.(2638-2640)Tac>Aac	p.Y880N	GRIA3_ENST00000371251.1_Missense_Mutation_p.Y880N|GRIA3_ENST00000371256.5_Missense_Mutation_p.Y880N|GRIA3_ENST00000542149.1_3'UTR	NM_000828.4	NP_000819	P42263	GRIA3_HUMAN	glutamate receptor, ionotropic, AMPA 3	880					glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					L-Glutamic Acid(DB00142)	TTATGCTACATACAGAGAAGG	0.418													52	80					0	0	1	0	0	A	122616848	T	A	122616848	3	1	102	1	0	0	0	0	1	0	0	0	6810	1406	49	4	2815	4	GRIA3	23	122616848	Missense_Mutation	SNP	T	TCGA-DU-7009-01A-11D-2024-08	2908426	122616848	32653712	23	20130											
SLC9A6	10479	broad.mit.edu	37	X	135106545	135106545	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7009-01A-11D-2024-08	TCGA-DU-7009-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4853fd17-7214-4f0c-984b-1be0346ca4ab	ebcde902-4750-4e90-b94c-a635aa053ea4	g.chrX:135106545C>T	ENST00000370695.4	+	12	1554	c.1519C>T	c.(1519-1521)Cgg>Tgg	p.R507W	SLC9A6_ENST00000370701.1_Missense_Mutation_p.R455W|SLC9A6_ENST00000370698.3_Missense_Mutation_p.R475W	NM_001042537.1	NP_001036002.1	Q92581	SL9A6_HUMAN	solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6	475					regulation of pH	early endosome membrane|endoplasmic reticulum membrane|integral to membrane|microsome|plasma membrane|recycling endosome membrane	sodium:hydrogen antiporter activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(18)|ovary(2)|upper_aerodigestive_tract(1)	33	Acute lymphoblastic leukemia(192;0.000127)					CACTTATGCACGGCAAATGAT	0.463													6	81					0	0	1	0	0	T	135106545	C	T	135106545	3	4	102	1	0	0	0	0	1	0	0	0	14773	527	19	1	1565	1	SLC9A6	23	135106545	Missense_Mutation	SNP	C	TCGA-DU-7009-01A-11D-2024-08	12489697	135106545	20164015	24	20131											
AFF2	2334	broad.mit.edu	37	X	148037323	148037323	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7009-01A-11D-2024-08	TCGA-DU-7009-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4853fd17-7214-4f0c-984b-1be0346ca4ab	ebcde902-4750-4e90-b94c-a635aa053ea4	g.chrX:148037323C>T	ENST00000370460.2	+	11	2227	c.1748C>T	c.(1747-1749)cCc>cTc	p.P583L	AFF2_ENST00000342251.3_Missense_Mutation_p.P550L|AFF2_ENST00000286437.5_Missense_Mutation_p.P224L|AFF2_ENST00000370457.5_Missense_Mutation_p.P550L	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	583					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					CCAGCTGAACCCAAAGAAAGG	0.483													87	117					0	0	1	0	0	T	148037323	C	T	148037323	3	4	102	1	0	0	0	0	1	0	0	0	356	623	22	2	1845	2	AFF2	23	148037323	Missense_Mutation	SNP	C	TCGA-DU-7009-01A-11D-2024-08	12930778	148037323	7233237	25	20132											
PRAMEF2	65122	broad.mit.edu	37	1	12918902	12918902	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr1:12918902C>A	ENST00000240189.2	+	2	125	c.38C>A	c.(37-39)gCg>gAg	p.A13E		NM_023014.1	NP_075390.1	O60811	PRAM2_HUMAN	PRAME family member 2	13										breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CTGGAGCTGGCGGGGCAGAGC	0.567													27	160					1.75199e-13	1.96222e-13	1	1	0	A	12918902	C	A	12918902	3	1	103	1	0	0	0	0	1	0	0	0	12484	768	27	5	40	5	PRAMEF2	1	12918902	Missense_Mutation	SNP	C	TCGA-DU-7010-01A-11D-2024-08		12918902	236331719	1	20133											
KIAA1522	57648	broad.mit.edu	37	1	33236713	33236713	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr1:33236713C>T	ENST00000401073.2	+	6	2003	c.1933C>T	c.(1933-1935)Cgc>Tgc	p.R645C	KIAA1522_ENST00000373480.1_Missense_Mutation_p.R586C|KIAA1522_ENST00000294521.3_Intron|KIAA1522_ENST00000373481.3_Missense_Mutation_p.R597C	NM_020888.2	NP_065939.2	Q9P206	K1522_HUMAN	KIAA1522	586	Pro-rich.									breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				CCCCTCAGACCGCTCTGGGCC	0.617													18	146					0	0	1	0	0	T	33236713	C	T	33236713	3	4	103	1	0	0	0	0	1	0	0	0	8280	652	23	1	1955	1	KIAA1522	1	33236713	Missense_Mutation	SNP	C	TCGA-DU-7010-01A-11D-2024-08	20317811	33236713	216013908	2	20134											
MACF1	23499	broad.mit.edu	37	1	39815264	39815264	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr1:39815264C>T	ENST00000564288.1	+	42	11707	c.10930C>T	c.(10930-10932)Ctc>Ttc	p.L3644F	MACF1_ENST00000567887.1_Missense_Mutation_p.L3681F|MACF1_ENST00000289893.4_Missense_Mutation_p.L2084F|MACF1_ENST00000545844.1_Missense_Mutation_p.L1582F|MACF1_ENST00000372915.3_Missense_Mutation_p.L3649F|MACF1_ENST00000539005.1_Missense_Mutation_p.L1582F|MACF1_ENST00000361689.2_Missense_Mutation_p.L1582F|MACF1_ENST00000317713.7_Missense_Mutation_p.L1582F|MACF1_ENST00000476350.1_3'UTR			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	3649					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CCAGCAGGATCTCTCTGCTTT	0.498													15	108					0	0	1	0	0	T	39815264	C	T	39815264	3	4	103	1	0	0	0	0	1	0	0	0	9190	913	32	2	11041	2	MACF1	1	39815264	Missense_Mutation	SNP	C	TCGA-DU-7010-01A-11D-2024-08	6578551	39815264	209435357	3	20135											
ACOT11	26027	broad.mit.edu	37	1	55072901	55072901	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr1:55072901G>A	ENST00000371316.3	+	14	1547	c.1465G>A	c.(1465-1467)Gtg>Atg	p.V489M	ACOT11_ENST00000481208.1_3'UTR|ACOT11_ENST00000343744.2_Missense_Mutation_p.V489M	NM_015547.3	NP_056362.1	Q8WXI4	ACO11_HUMAN	acyl-CoA thioesterase 11	489	START.				fatty acid metabolic process|intracellular signal transduction|response to cold		acyl-CoA thioesterase activity|carboxylesterase activity			NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(3)|lung(5)|ovary(1)	17						CCAGGACTTCGTGATCCTGGC	0.627													10	64					0	0	1	0	0	A	55072901	G	A	55072901	3	1	103	1	0	0	0	0	1	0	0	0	149	1145	40	1	1519	1	ACOT11	1	55072901	Missense_Mutation	SNP	G	TCGA-DU-7010-01A-11D-2024-08	15257637	55072901	194177720	4	20136											
POLR3GL	84265	broad.mit.edu	37	1	145457015	145457015	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr1:145457015C>G	ENST00000369314.1	-	7	652	c.546G>C	c.(544-546)gaG>gaC	p.E182D	POLR3GL_ENST00000369313.3_Missense_Mutation_p.E159D	NM_032305.1	NP_115681.1	Q9BT43	RPC7L_HUMAN	polymerase (RNA) III (DNA directed) polypeptide G (32kD)-like	182	Glu-rich.									endometrium(2)|large_intestine(1)|lung(1)	4	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					cttcatcatactcttcttctt	0.478													7	25					0	0	1	0	0	G	145457015	C	G	145457015	3	3	103	1	0	0	0	0	1	0	0	0	12283	564	20	4	118	4	POLR3GL	1	145457015	Missense_Mutation	SNP	C	TCGA-DU-7010-01A-11D-2024-08	90384114	145457015	103793606	5	20137											
TCHHL1	126637	broad.mit.edu	37	1	152060485	152060485	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr1:152060485delA	ENST00000368806.1	-	2	199	c.135delT	c.(133-135)tttfs	p.F45fs		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	45							calcium ion binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			AGCTCACCTGAAAAAAGTCCC	0.453													97	246	---	---	---	---						-	152060485	A	-	152060485	7	5	103	1	0	1	0	1	0	0	0	0	15761	243	9	0	2587	0	TCHHL1	1	152060485	Frame_Shift_Del	DEL	A	TCGA-DU-7010-01A-11D-2024-08	6603470	152060485	97190136	6	20138											
FLG	2312	broad.mit.edu	37	1	152284454	152284454	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr1:152284454G>T	ENST00000368799.1	-	3	2943	c.2908C>A	c.(2908-2910)Cat>Aat	p.H970N	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	970	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GATCCACGATGGTTTCTGGAA	0.582									Ichthyosis				63	450					1.41401e-22	1.67764e-22	1	1	0	T	152284454	G	T	152284454	3	4	103	1	0	0	0	0	1	0	0	0	5955	1348	47	5	9281	5	FLG	1	152284454	Missense_Mutation	SNP	G	TCGA-DU-7010-01A-11D-2024-08	223969	152284454	96966167	7	20139											
BLZF1	8548	broad.mit.edu	37	1	169347582	169347582	+	Silent	SNP	A	A	G			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr1:169347582A>G	ENST00000367808.3	+	4	906	c.483A>G	c.(481-483)ttA>ttG	p.L161L	BLZF1_ENST00000329281.2_Silent_p.L161L			Q9H2G9	GO45_HUMAN	basic leucine zipper nuclear factor 1	161					cell proliferation|Golgi organization|Golgi to plasma membrane protein transport|regulation of cell growth|regulation of transcription from RNA polymerase II promoter	Golgi lumen|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|ubiquitin protein ligase binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	14	all_hematologic(923;0.208)					ATCGTGAGTTAAAAAAGTTAC	0.343													59	119					0	0	1	0	0	G	169347582	A	G	169347582	2	3	103	1	0	0	0	0	0	0	0	1	1452	359	13	3		3	BLZF1	1	169347582	Silent	SNP	A	TCGA-DU-7010-01A-11D-2024-08	17063128	169347582	79903039	8	20140											
CACNA1E	777	broad.mit.edu	37	1	181684510	181684510	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr1:181684510G>A	ENST00000526775.1	+	9	1373	c.1208G>A	c.(1207-1209)gGa>gAa	p.G403E	CACNA1E_ENST00000367567.4_Missense_Mutation_p.G10E|CACNA1E_ENST00000367570.1_Missense_Mutation_p.G403E|CACNA1E_ENST00000357570.5_Missense_Mutation_p.G354E|CACNA1E_ENST00000360108.3_Missense_Mutation_p.G403E|CACNA1E_ENST00000358338.5_Missense_Mutation_p.G354E|CACNA1E_ENST00000367573.2_Missense_Mutation_p.G403E	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	403					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						AAAAATGCTGGAACATCCGCC	0.373													4	12					0	0	1	0	0	A	181684510	G	A	181684510	3	1	103	1	0	0	0	0	1	0	0	0	2560	1174	41	2	1242	2	CACNA1E	1	181684510	Missense_Mutation	SNP	G	TCGA-DU-7010-01A-11D-2024-08	12336928	181684510	67566111	9	20141											
PLA2G4A	5321	broad.mit.edu	37	1	186934577	186934577	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr1:186934577A>G	ENST00000367466.3	+	15	1768	c.1616A>G	c.(1615-1617)gAt>gGt	p.D539G	PLA2G4A_ENST00000442353.2_Missense_Mutation_p.D479G	NM_024420.2	NP_077734	P47712	PA24A_HUMAN	phospholipase A2, group IVA (cytosolic, calcium-dependent)	539	PLA2c.				phospholipid catabolic process|platelet activating factor biosynthetic process|platelet activation	cytosol|endoplasmic reticulum membrane	calcium ion binding|calcium-dependent phospholipid binding|lysophospholipase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|prostate(3)|skin(4)|stomach(1)	53					Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Medrysone(DB00253)|Quinacrine(DB01103)	GAGCCTCTGGATGTCAAAAGT	0.353													14	72					0	0	1	0	0	G	186934577	A	G	186934577	3	3	103	1	0	0	0	0	1	0	0	0	12049	333	12	3	1670	3	PLA2G4A	1	186934577	Missense_Mutation	SNP	A	TCGA-DU-7010-01A-11D-2024-08	5250067	186934577	62316044	10	20142											
IKBKE	9641	broad.mit.edu	37	1	206649566	206649566	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr1:206649566G>A	ENST00000367120.3	+	6	774	c.401G>A	c.(400-402)cGc>cAc	p.R134H	IKBKE_ENST00000537984.1_Missense_Mutation_p.R49H	NM_001193322.1|NM_014002.3	NP_001180251.1|NP_054721.1	Q14164	IKKE_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase epsilon	134	Protein kinase.				DNA damage response, signal transduction resulting in induction of apoptosis|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane|PML body	ATP binding|IkappaB kinase activity|NF-kappaB-inducing kinase activity|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|skin(2)	32	Breast(84;0.137)					ATTGTGCATCGCGACATCAAG	0.622													5	68					0	0	1	0	0	A	206649566	G	A	206649566	3	1	103	1	0	0	0	0	1	0	0	0	7656	1087	38	1	415	1	IKBKE	1	206649566	Missense_Mutation	SNP	G	TCGA-DU-7010-01A-11D-2024-08	19714989	206649566	42601055	11	20143											
OR2M5	127059	broad.mit.edu	37	1	248309136	248309136	+	Silent	SNP	A	A	T			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr1:248309136A>T	ENST00000366476.1	+	1	687	c.687A>T	c.(685-687)ggA>ggT	p.G229G		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	229					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			TTCACATGGGATCTGGAGAGG	0.443													55	317					0	0	1	0	0	T	248309136	A	T	248309136	2	4	103	1	0	0	0	0	0	0	0	1	11061	320	12	4		4	OR2M5	1	248309136	Silent	SNP	A	TCGA-DU-7010-01A-11D-2024-08	41659570	248309136	941485	12	20144											
OR2T4	127074	broad.mit.edu	37	1	248525025	248525025	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr1:248525025G>T	ENST00000366475.1	+	1	143	c.143G>T	c.(142-144)gGa>gTa	p.G48V		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	48					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			ATCCTGTTGGGACTCTTCAGA	0.458													26	159					1.1804e-14	1.35455e-14	1	1	0	T	248525025	G	T	248525025	3	4	103	1	0	0	0	0	1	0	0	0	11075	1174	41	5	145	5	OR2T4	1	248525025	Missense_Mutation	SNP	G	TCGA-DU-7010-01A-11D-2024-08	215889	248525025	725596	13	20145											
CCT7	10574	broad.mit.edu	37	2	73466844	73466844	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr2:73466844G>A	ENST00000258091.5	+	2	221	c.80G>A	c.(79-81)aGt>aAt	p.S27N	CCT7_ENST00000473786.1_Intron|CCT7_ENST00000537131.1_5'UTR|CCT7_ENST00000540468.1_Intron|CCT7_ENST00000398422.2_Intron|CCT7_ENST00000538797.1_5'UTR|CCT7_ENST00000539919.1_5'UTR	NM_006429.3	NP_006420.1	Q99832	TCPH_HUMAN	chaperonin containing TCP1, subunit 7 (eta)	27					'de novo' posttranslational protein folding		ATP binding|unfolded protein binding			breast(1)|cervix(1)|endometrium(1)|lung(3)|stomach(1)	7						AGTAACATCAGTGCCTGCCAG	0.488													7	23					0	0	1	0	0	A	73466844	G	A	73466844	3	1	103	1	0	0	0	0	1	0	0	0	2981	1029	36	2	86	2	CCT7	2	73466844	Missense_Mutation	SNP	G	TCGA-DU-7010-01A-11D-2024-08		73466844	169732529	14	20146											
EDAR	10913	broad.mit.edu	37	2	109546658	109546658	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr2:109546658C>T	ENST00000409271.1	-	4	535	c.92G>A	c.(91-93)tGc>tAc	p.C31Y	EDAR_ENST00000376651.1_Missense_Mutation_p.C31Y|EDAR_ENST00000258443.2_Missense_Mutation_p.C31Y			Q9UNE0	EDAR_HUMAN	ectodysplasin A receptor	31					apoptosis|cell differentiation	integral to membrane	protein binding|transmembrane receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16						GTTCTCACCGCAGTTTGAGTA	0.602													5	34					0	0	1	0	0	T	109546658	C	T	109546658	3	4	103	1	0	0	0	0	1	0	0	0	4931	710	25	2	1294	2	EDAR	2	109546658	Missense_Mutation	SNP	C	TCGA-DU-7010-01A-11D-2024-08	36079814	109546658	133652715	15	20147											
CCDC148	130940	broad.mit.edu	37	2	159201746	159201746	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr2:159201746G>C	ENST00000283233.5	-	3	545	c.232C>G	c.(232-234)Cag>Gag	p.Q78E	CCDC148_ENST00000409187.1_Missense_Mutation_p.Q87E|CCDC148_ENST00000409889.1_Missense_Mutation_p.Q78E|CCDC148_ENST00000536771.1_Intron	NM_138803.3	NP_620158.3	Q8NFR7	CC148_HUMAN	coiled-coil domain containing 148	78										endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						TTCAGCCTCTGGTATTCCTGC	0.383													24	125					0	0	1	0	0	C	159201746	G	C	159201746	3	2	103	1	0	0	0	0	1	0	0	0	2800	1357	47	5	1643	5	CCDC148	2	159201746	Missense_Mutation	SNP	G	TCGA-DU-7010-01A-11D-2024-08	49655088	159201746	83997627	16	20148											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								22	43					0	0	1	0	0	T	209113112	C	T	209113112	3	4	103	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-DU-7010-01A-11D-2024-08	49911366	209113112	34086261	17	20149											
SLC4A3	6508	broad.mit.edu	37	2	220497018	220497018	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr2:220497018G>A	ENST00000358055.3	+	8	1507	c.995G>A	c.(994-996)cGc>cAc	p.R332H	SLC4A3_ENST00000317151.3_Missense_Mutation_p.R332H|SLC4A3_ENST00000373762.3_Missense_Mutation_p.R359H|SLC4A3_ENST00000497589.1_3'UTR|SLC4A3_ENST00000273063.6_Missense_Mutation_p.R359H|SLC4A3_ENST00000373760.2_Missense_Mutation_p.R332H			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3	332					bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ATGCTGGACCGCAGCCAGGAG	0.667													4	34					0	0	1	0	0	A	220497018	G	A	220497018	3	1	103	1	0	0	0	0	1	0	0	0	14710	1087	38	1	1102	1	SLC4A3	2	220497018	Missense_Mutation	SNP	G	TCGA-DU-7010-01A-11D-2024-08	11383906	220497018	22702355	18	20150											
BRPF1	7862	broad.mit.edu	37	3	9781283	9781283	+	Silent	SNP	C	C	T			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr3:9781283C>T	ENST00000383829.2	+	3	1604	c.1200C>T	c.(1198-1200)tgC>tgT	p.C400C	BRPF1_ENST00000433861.2_Silent_p.C400C|BRPF1_ENST00000424362.1_Silent_p.C400C|BRPF1_ENST00000302054.3_Silent_p.C400C|BRPF1_ENST00000457855.1_Silent_p.C400C	NM_001003694.1	NP_001003694.1	P55201	BRPF1_HUMAN	bromodomain and PHD finger containing, 1	400					histone H3 acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|MOZ/MORF histone acetyltransferase complex|plasma membrane	DNA binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	49	Medulloblastoma(99;0.227)					GCATCCAGTGCCACAAGGCCA	0.572													20	59					0	0	1	0	0	T	9781283	C	T	9781283	2	4	103	1	0	0	0	0	0	0	0	1	1522	747	26	2		2	BRPF1	3	9781283	Silent	SNP	C	TCGA-DU-7010-01A-11D-2024-08		9781283	188241147	19	20151											
SACM1L	22908	broad.mit.edu	37	3	45744968	45744968	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr3:45744968A>G	ENST00000389061.5	+	2	275	c.71A>G	c.(70-72)gAt>gGt	p.D24G	SACM1L_ENST00000464524.1_3'UTR|SACM1L_ENST00000418611.1_5'UTR|SACM1L_ENST00000541314.1_Missense_Mutation_p.M6V	NM_014016.3	NP_054735.3	Q9NTJ5	SAC1_HUMAN	SAC1 suppressor of actin mutations 1-like (yeast)	24						Golgi apparatus				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.0102)|KIRC - Kidney renal clear cell carcinoma(197;0.0234)|Kidney(197;0.0277)		GAAGCTTGTGATGATGGAGCA	0.358													18	52					0	0	1	0	0	G	45744968	A	G	45744968	3	3	103	1	0	0	0	0	1	0	0	0	13855	333	12	3	77	3	SACM1L	3	45744968	Missense_Mutation	SNP	A	TCGA-DU-7010-01A-11D-2024-08	35963685	45744968	152277462	20	20152											
PARL	55486	broad.mit.edu	37	3	183580581	183580581	+	Silent	SNP	C	C	T			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr3:183580581C>T	ENST00000317096.4	-	4	531	c.471G>A	c.(469-471)aaG>aaA	p.K157K	PARL_ENST00000311101.5_Silent_p.K157K|PARL_ENST00000435888.1_Silent_p.K157K	NM_018622.5	NP_061092.3	Q9H300	PARL_HUMAN	presenilin associated, rhomboid-like	157					proteolysis	integral to membrane|mitochondrial inner membrane|nucleus	serine-type endopeptidase activity			endometrium(2)|large_intestine(3)|liver(1)|lung(6)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	17	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.21e-41)|Epithelial(37;1.34e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			TATTCCACCACTTGTTAATCT	0.393													4	46					0	0	1	0	0	T	183580581	C	T	183580581	2	4	103	1	0	0	0	0	0	0	0	1	11498	564	20	2		2	PARL	3	183580581	Silent	SNP	C	TCGA-DU-7010-01A-11D-2024-08	137835613	183580581	14441849	21	20153											
GAK	2580	broad.mit.edu	37	4	861174	861174	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr4:861174C>G	ENST00000314167.4	-	21	2552	c.2442G>C	c.(2440-2442)gaG>gaC	p.E814D	GAK_ENST00000509566.1_5'UTR|GAK_ENST00000511163.1_Missense_Mutation_p.E735D	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN	cyclin G associated kinase	814					cell cycle	focal adhesion|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39				Colorectal(103;0.219)		CAGACTCGCTCTCCTTGGAAG	0.587													18	90					0	0	1	0	0	G	861174	C	G	861174	3	3	103	1	0	0	0	0	1	0	0	0	6235	912	32	4	1525	4	GAK	4	861174	Missense_Mutation	SNP	C	TCGA-DU-7010-01A-11D-2024-08		861174	190293102	22	20154											
PPP2R2C	5522	broad.mit.edu	37	4	6325273	6325273	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr4:6325273C>T	ENST00000335585.5	-	9	1123	c.1100G>A	c.(1099-1101)cGg>cAg	p.R367Q	PPP2R2C_ENST00000506140.1_Missense_Mutation_p.R360Q|PPP2R2C_ENST00000382599.4_Missense_Mutation_p.R367Q|PPP2R2C_ENST00000507294.1_Missense_Mutation_p.R360Q|PPP2R2C_ENST00000515571.1_Missense_Mutation_p.R350Q	NM_181876.2	NP_870991.1	Q9Y2T4	2ABG_HUMAN	protein phosphatase 2, regulatory subunit B, gamma	367					signal transduction	protein phosphatase type 2A complex	protein phosphatase type 2A regulator activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	28						CTTGGTGTTCCGATCGAACAT	0.642													6	42					0	0	1	0	0	T	6325273	C	T	6325273	3	4	103	1	0	0	0	0	1	0	0	0	12435	652	23	1	247	1	PPP2R2C	4	6325273	Missense_Mutation	SNP	C	TCGA-DU-7010-01A-11D-2024-08	5464099	6325273	184829003	23	20155											
ARAP2	116984	broad.mit.edu	37	4	36126576	36126576	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr4:36126576G>T	ENST00000303965.4	-	22	4143	c.3654C>A	c.(3652-3654)gaC>gaA	p.D1218E		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	1218	Rho-GAP.				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						TTCTTTCCTTGTCATCTTGCG	0.368													11	64					1.58986e-06	1.69909e-06	1	1	0	T	36126576	G	T	36126576	3	4	103	1	0	0	0	0	1	0	0	0	836	1368	48	5	1508	5	ARAP2	4	36126576	Missense_Mutation	SNP	G	TCGA-DU-7010-01A-11D-2024-08	29801303	36126576	155027700	24	20156											
TLR10	81793	broad.mit.edu	37	4	38776590	38776590	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr4:38776590G>A	ENST00000308973.4	-	4	1227	c.622C>T	c.(622-624)Cgt>Tgt	p.R208C	TLR10_ENST00000508334.1_Missense_Mutation_p.R208C|TLR10_ENST00000506111.1_Missense_Mutation_p.R208C|TLR10_ENST00000361424.2_Missense_Mutation_p.R208C	NM_001017388.2|NM_001195107.1|NM_030956.3	NP_001017388.1|NP_001182036.1|NP_112218.2	Q9BXR5	TLR10_HUMAN	toll-like receptor 10	208					inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane	transmembrane receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(2)	25						ATTCCATCACGCAAAAGAACC	0.338													8	80					0	0	1	0	0	A	38776590	G	A	38776590	3	1	103	1	0	0	0	0	1	0	0	0	16010	1087	38	1	1817	1	TLR10	4	38776590	Missense_Mutation	SNP	G	TCGA-DU-7010-01A-11D-2024-08	2650014	38776590	152377686	25	20157											
TBCK	93627	broad.mit.edu	37	4	106967769	106967769	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr4:106967769T>C	ENST00000273980.5	-	27	3087	c.2640A>G	c.(2638-2640)atA>atG	p.I880M	TBCK_ENST00000394708.2_Missense_Mutation_p.I880M|TBCK_ENST00000432496.2_Missense_Mutation_p.I880M|TBCK_ENST00000394706.3_Missense_Mutation_p.I841M|TBCK_ENST00000361687.4_Missense_Mutation_p.I817M			Q8TEA7	TBCK_HUMAN	TBC1 domain containing kinase		Rhodanese.					intracellular	Rab GTPase activator activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	25						CTGTTGGCTTTATTTTATTAA	0.408													12	23					0	0	1	0	0	C	106967769	T	C	106967769	3	2	103	1	0	0	0	0	1	0	0	0	15696	1744	61	3	45	3	TBCK	4	106967769	Missense_Mutation	SNP	T	TCGA-DU-7010-01A-11D-2024-08	68191179	106967769	84186507	26	20158											
CLPTM1L	81037	broad.mit.edu	37	5	1330403	1330403	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr5:1330403C>T	ENST00000320895.5	-	9	1329	c.1072G>A	c.(1072-1074)Gcc>Acc	p.A358T	CLPTM1L_ENST00000320927.6_Intron|CLPTM1L_ENST00000507807.1_Intron	NM_030782.3	NP_110409.2	Q96KA5	CLP1L_HUMAN	CLPTM1-like	358					apoptosis	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24	Lung NSC(6;5.78e-14)|all_lung(6;4.47e-13)|all_epithelial(6;4.47e-09)		Epithelial(17;0.00931)|OV - Ovarian serous cystadenocarcinoma(19;0.0116)|all cancers(22;0.0181)	KIRC - Kidney renal clear cell carcinoma(5;0.177)|Kidney(13;0.208)		ACCTCAATGGCGGCTCCAACA	0.622													10	77					0	0	1	0	0	T	1330403	C	T	1330403	3	4	103	1	0	0	0	0	1	0	0	0	3578	768	27	1	580	1	CLPTM1L	5	1330403	Missense_Mutation	SNP	C	TCGA-DU-7010-01A-11D-2024-08		1330403	179584857	27	20159											
CDH12	1010	broad.mit.edu	37	5	21817163	21817163	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr5:21817163A>C	ENST00000382254.1	-	9	1979	c.893T>G	c.(892-894)tTt>tGt	p.F298C	CDH12_ENST00000504376.2_Missense_Mutation_p.F298C|CDH12_ENST00000522262.1_Missense_Mutation_p.F258C|CDH12_ENST00000521384.1_5'UTR	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	298	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						ATTTTGTCCAAAATCAGGATC	0.388										HNSCC(59;0.17)			23	88					0	0	1	0	0	C	21817163	A	C	21817163	3	2	103	1	0	0	0	0	1	0	0	0	3120	14	1	5	1519	5	CDH12	5	21817163	Missense_Mutation	SNP	A	TCGA-DU-7010-01A-11D-2024-08	20486760	21817163	159098097	28	20160											
APC	324	broad.mit.edu	37	5	112176714	112176714	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr5:112176714A>C	ENST00000457016.1	+	16	5803	c.5423A>C	c.(5422-5424)aAc>aCc	p.N1808T	APC_ENST00000508376.2_Missense_Mutation_p.N1808T|CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000257430.4_Missense_Mutation_p.N1808T			P25054	APC_HUMAN	adenomatous polyposis coli	1808	Ser-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.K1192fs*3(1)|p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		TTCTCAGACAACAAAGATTCA	0.313		12	"D, Mis, N, F, S"		"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"	"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)			7	36					0	0	1	0	0	C	112176714	A	C	112176714	3	2	103	1	0	0	0	0	1	0	0	0	759	43	2	5	5481	5	APC	5	112176714	Missense_Mutation	SNP	A	TCGA-DU-7010-01A-11D-2024-08	90359551	112176714	68738546	29	20161											
FBN2	2201	broad.mit.edu	37	5	127730892	127730892	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr5:127730892T>G	ENST00000508053.1	-	15	2128	c.1154A>C	c.(1153-1155)aAa>aCa	p.K385T	FBN2_ENST00000262464.4_Missense_Mutation_p.K385T|FBN2_ENST00000508989.1_Missense_Mutation_p.K352T			P35556	FBN2_HUMAN	fibrillin 2	385	TB 2.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		GCACTGCATTTTCGTCATTCT	0.547													5	24					0	0	1	0	0	G	127730892	T	G	127730892	3	3	103	1	0	0	0	0	1	0	0	0	5736	1841	64	5	7812	5	FBN2	5	127730892	Missense_Mutation	SNP	T	TCGA-DU-7010-01A-11D-2024-08	15554178	127730892	53184368	30	20162											
SQSTM1	8878	broad.mit.edu	37	5	179247941	179247941	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr5:179247941C>T	ENST00000389805.4	+	1	183	c.5C>T	c.(4-6)gCg>gTg	p.A2V	SQSTM1_ENST00000402874.3_5'UTR|SQSTM1_ENST00000510187.1_Missense_Mutation_p.A2V|SQSTM1_ENST00000376929.3_Intron	NM_003900.4	NP_003891.1	Q13501	SQSTM_HUMAN	sequestosome 1	2	Interaction with LCK.				anti-apoptosis|apoptosis|cell differentiation|endosome transport|induction of apoptosis by extracellular signals|intracellular signal transduction|macroautophagy|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein localization|regulation of I-kappaB kinase/NF-kappaB cascade|ubiquitin-dependent protein catabolic process	cytosol|late endosome|nucleoplasm	protein kinase C binding|receptor tyrosine kinase binding|SH2 domain binding|ubiquitin binding|zinc ion binding		SQSTM1/ALK(2)	NS(1)|breast(1)|endometrium(1)|large_intestine(2)|liver(2)|lung(5)|ovary(1)	13	all_cancers(89;0.000205)|all_epithelial(37;7.15e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0395)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTCGCTATGGCGTCGCTCACC	0.716													3	6					0	0	1	0	0	T	179247941	C	T	179247941	3	4	103	1	0	0	0	0	1	0	0	0	15186	768	27	1	7	1	SQSTM1	5	179247941	Missense_Mutation	SNP	C	TCGA-DU-7010-01A-11D-2024-08	51517049	179247941	1667319	31	20163											
FLT4	2324	broad.mit.edu	37	5	180043382	180043382	+	Silent	SNP	G	G	A			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr5:180043382G>A	ENST00000261937.6	-	23	3282	c.3204C>T	c.(3202-3204)taC>taT	p.Y1068Y	FLT4_ENST00000393347.3_Silent_p.Y1068Y|FLT4_ENST00000502649.1_Silent_p.Y1068Y	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	1068	Protein kinase.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	CCTTGCGGACGTAGTCGGGGT	0.597													12	46					0	0	1	0	0	A	180043382	G	A	180043382	2	1	103	1	0	0	0	0	0	0	0	1	5977	1140	40	1		1	FLT4	5	180043382	Silent	SNP	G	TCGA-DU-7010-01A-11D-2024-08	795441	180043382	871878	32	20164											
DNAH8	1769	broad.mit.edu	37	6	38690922	38690922	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr6:38690922C>T	ENST00000449981.2	+	2	446	c.337C>T	c.(337-339)Cgc>Tgc	p.R113C	DNAH8_ENST00000359357.3_5'UTR					dynein, axonemal, heavy chain 8									p.R113C(1)		NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						CTCCAGATACCGCCGGAGTAT	0.488													25	26					0	0	1	0	0	T	38690922	C	T	38690922	3	4	103	1	0	0	0	0	1	0	0	0	4634	667	23	1		1	DNAH8	6	38690922	Missense_Mutation	SNP	C	TCGA-DU-7010-01A-11D-2024-08		38690922	132424145	33	20165											
LPA	4018	broad.mit.edu	37	6	161027642	161027642	+	Silent	SNP	A	A	G			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr6:161027642A>G	ENST00000447678.1	-	18	2772	c.2652T>C	c.(2650-2652)ccT>ccC	p.P884P	LPA_ENST00000316300.5_Silent_p.P884P	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN	lipoprotein, Lp(a)	3392	Kringle 8.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	TATAACAATAAGGGGCTGCCA	0.522													83	127					0	0	1	0	0	G	161027642	A	G	161027642	2	3	103	1	0	0	0	0	0	0	0	1	8948	59	3	3		3	LPA	6	161027642	Silent	SNP	A	TCGA-DU-7010-01A-11D-2024-08	122336720	161027642	10087425	34	20166											
CYTH3	9265	broad.mit.edu	37	7	6217518	6217518	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr7:6217518C>T	ENST00000350796.3	-	5	440	c.304G>A	c.(304-306)Gcc>Acc	p.A102T		NM_004227.3	NP_004218.1	O43739	CYH3_HUMAN	cytohesin 3	102	SEC7.				regulation of ARF protein signal transduction|regulation of cell adhesion|vesicle-mediated transport	cytoplasm|membrane fraction|plasma membrane	1-phosphatidylinositol binding|ARF guanyl-nucleotide exchange factor activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|urinary_tract(1)	19						AGGAACTGGGCGACGTCTTCT	0.463													16	74					0	0	1	0	0	T	6217518	C	T	6217518	3	4	103	1	0	0	0	0	1	0	0	0	4228	768	27	1	931	1	CYTH3	7	6217518	Missense_Mutation	SNP	C	TCGA-DU-7010-01A-11D-2024-08		6217518	152921145	35	20167											
MEOX2	4223	broad.mit.edu	37	7	15652021	15652021	+	Silent	SNP	C	C	T			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr7:15652021C>T	ENST00000262041.5	-	3	1315	c.906G>A	c.(904-906)gcG>gcA	p.A302A		NM_005924.4	NP_005915.2	P50222	MEOX2_HUMAN	mesenchyme homeobox 2	302					blood circulation|multicellular organismal development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.A302A(2)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24				UCEC - Uterine corpus endometrioid carcinoma (126;0.0822)		ATCATAAGTGCGCATGCTCTG	0.478													9	66					0	0	1	0	0	T	15652021	C	T	15652021	2	4	103	1	0	0	0	0	0	0	0	1	9524	755	27	1		1	MEOX2	7	15652021	Silent	SNP	C	TCGA-DU-7010-01A-11D-2024-08	9434503	15652021	143486642	36	20168											
TTC26	79989	broad.mit.edu	37	7	138863316	138863316	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr7:138863316C>G	ENST00000464848.1	+	14	1294	c.1214C>G	c.(1213-1215)gCa>gGa	p.A405G	TTC26_ENST00000478836.2_Missense_Mutation_p.A298G|TTC26_ENST00000343187.4_Missense_Mutation_p.A374G|TTC26_ENST00000430935.1_Missense_Mutation_p.A405G|TTC26_ENST00000495038.1_Missense_Mutation_p.A274G			A0AVF1	TTC26_HUMAN	tetratricopeptide repeat domain 26	405							binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	24						GCCAAAGCTGCAACAGGCAAT	0.368													8	57					0	0	1	0	0	G	138863316	C	G	138863316	3	3	103	1	0	0	0	0	1	0	0	0	16756	710	25	5	1268	5	TTC26	7	138863316	Missense_Mutation	SNP	C	TCGA-DU-7010-01A-11D-2024-08	123211295	138863316	20275347	37	20169											
SSPO	23145	broad.mit.edu	37	7	149474867	149474867	+	RNA	SNP	G	G	A			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr7:149474867G>A	ENST00000378016.2	+	0	666							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			ACCTGCTGGCGGGTGCTGCGG	0.682													5	12					0	0	1	0	0	A	149474867	G	A	149474867	1	1	103	0	1	0	0	0	0	0	0	0	15245	1103	39	1		1	SSPO	7	149474867	RNA	SNP	G	TCGA-DU-7010-01A-11D-2024-08	10611551	149474867	9663796	38	20170											
MTMR7	9108	broad.mit.edu	37	8	17218649	17218649	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr8:17218649T>A	ENST00000180173.5	-	4	479	c.445A>T	c.(445-447)Agc>Tgc	p.S149C	MTMR7_ENST00000521857.1_Missense_Mutation_p.S149C	NM_004686.4	NP_004677.3	Q9Y216	MTMR7_HUMAN	myotubularin related protein 7	149	Myotubularin phosphatase.						protein tyrosine phosphatase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(8)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	32				Colorectal(111;0.112)		TTCACATCGCTGAGCTGCCAG	0.473													30	50					0	0	1	0	0	A	17218649	T	A	17218649	3	1	103	1	0	0	0	0	1	0	0	0	9996	1580	55	5	1581	5	MTMR7	8	17218649	Missense_Mutation	SNP	T	TCGA-DU-7010-01A-11D-2024-08		17218649	129145373	39	20171											
ADAM2	2515	broad.mit.edu	37	8	39695695	39695695	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr8:39695695C>T	ENST00000265708.4	-	1	113	c.10G>A	c.(10-12)Gtc>Atc	p.V4I	ADAM2_ENST00000523181.1_5'UTR|ADAM2_ENST00000379853.2_Missense_Mutation_p.V4I|ADAM2_ENST00000521880.1_Missense_Mutation_p.V4I|ADAM2_ENST00000347580.4_Missense_Mutation_p.V4I	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2	4					cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		AGAAACAAGACGCGCCACATG	0.612													5	31					0	0	1	0	0	T	39695695	C	T	39695695	3	4	103	1	0	0	0	0	1	0	0	0	240	536	19	1	2277	1	ADAM2	8	39695695	Missense_Mutation	SNP	C	TCGA-DU-7010-01A-11D-2024-08	22477046	39695695	106668327	40	20172											
OC90	729330	broad.mit.edu	37	8	133044199	133044199	+	Silent	SNP	C	C	T			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr8:133044199C>T	ENST00000262283.5	-	16	1695	c.1596G>A	c.(1594-1596)ccG>ccA	p.P532P	OC90_ENST00000443356.2_Silent_p.P336P|OC90_ENST00000603859.1_Silent_p.P320P|OC90_ENST00000254627.3_Silent_p.P320P			Q02509	OC90_HUMAN	otoconin 90	336					lipid catabolic process|phospholipid metabolic process		calcium ion binding|phospholipase A2 activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(23)|ovary(2)|prostate(1)|skin(1)	37	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)			CAAATTCCTCCGGGCACCGGG	0.547													13	45					0	0	1	0	0	T	133044199	C	T	133044199	2	4	103	1	0	0	0	0	0	0	0	1	10862	639	23	1		1	OC90	8	133044199	Silent	SNP	C	TCGA-DU-7010-01A-11D-2024-08	93348504	133044199	13319823	41	20173											
GSDMD	79792	broad.mit.edu	37	8	144641509	144641509	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr8:144641509G>T	ENST00000526406.1	+	5	887	c.4G>T	c.(4-6)Ggg>Tgg	p.G2W	GSDMD_ENST00000262580.4_Missense_Mutation_p.G2W|GSDMD_ENST00000533063.1_Missense_Mutation_p.G50W	NM_001166237.1	NP_001159709.1	P57764	GSDMD_HUMAN	gasdermin D	2										breast(1)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	12						CAGGAGCATGGGGTCGGCCTT	0.627													10	26					0.0692343	0.0697324	1	1	0	T	144641509	G	T	144641509	3	4	103	1	0	0	0	0	1	0	0	0	6860	1232	43	5	6	5	GSDMD	8	144641509	Missense_Mutation	SNP	G	TCGA-DU-7010-01A-11D-2024-08	11597310	144641509	1722513	42	20174											
MPDZ	8777	broad.mit.edu	37	9	13138059	13138059	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr9:13138059C>T	ENST00000319217.7	-	29	4344	c.4097G>A	c.(4096-4098)gGg>gAg	p.G1366E	MPDZ_ENST00000447879.1_Missense_Mutation_p.G1333E|MPDZ_ENST00000546205.1_Missense_Mutation_p.G1380E|MPDZ_ENST00000540202.1_5'UTR|MPDZ_ENST00000536827.1_Missense_Mutation_p.G1333E|MPDZ_ENST00000381022.2_Missense_Mutation_p.G1366E|MPDZ_ENST00000541718.1_Missense_Mutation_p.G1366E|MPDZ_ENST00000538841.1_Missense_Mutation_p.G225E|MPDZ_ENST00000381015.4_Missense_Mutation_p.G1366E	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	1366	PDZ 8.				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		GTCTTTGTTCCCAGCAAGACT	0.448													12	65					0	0	1	0	0	T	13138059	C	T	13138059	3	4	103	1	0	0	0	0	1	0	0	0	9771	623	22	2	2100	2	MPDZ	9	13138059	Missense_Mutation	SNP	C	TCGA-DU-7010-01A-11D-2024-08		13138059	128075372	43	20175			1	6		2	2	22	C		7.461753e-05
MPDZ	8777	broad.mit.edu	37	9	13138080	13138080	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr9:13138080C>G	ENST00000319217.7	-	29	4323	c.4076G>C	c.(4075-4077)gGt>gCt	p.G1359A	MPDZ_ENST00000447879.1_Missense_Mutation_p.G1326A|MPDZ_ENST00000546205.1_Missense_Mutation_p.G1373A|MPDZ_ENST00000540202.1_5'UTR|MPDZ_ENST00000536827.1_Missense_Mutation_p.G1326A|MPDZ_ENST00000381022.2_Missense_Mutation_p.G1359A|MPDZ_ENST00000541718.1_Missense_Mutation_p.G1359A|MPDZ_ENST00000538841.1_Missense_Mutation_p.G218A|MPDZ_ENST00000381015.4_Missense_Mutation_p.G1359A	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	1359	PDZ 8.				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		TAGGCCCAAACCACTATGACC	0.438													9	68					0	0	1	0	0	G	13138080	C	G	13138080	3	3	103	1	0	0	0	0	1	0	0	0	9771	507	18	5	2121	5	MPDZ	9	13138080	Missense_Mutation	SNP	C	TCGA-DU-7010-01A-11D-2024-08	21	13138080	128075351	44	20176			1	6		2	2	22	C		7.461753e-05
IFNA5	3442	broad.mit.edu	37	9	21304957	21304957	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr9:21304957C>A	ENST00000259555.4	-	1	355	c.299G>T	c.(298-300)tGg>tTg	p.W100L		NM_002169.2	NP_002160.1	P01569	IFNA5_HUMAN	interferon, alpha 5	100					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	7				Lung(24;2.34e-24)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		TGTCTCATCCCAAGTAGCAGA	0.483													39	225					8.73648e-17	1.01083e-16	1	1	0	A	21304957	C	A	21304957	3	1	103	1	0	0	0	0	1	0	0	0	7584	595	21	5	274	5	IFNA5	9	21304957	Missense_Mutation	SNP	C	TCGA-DU-7010-01A-11D-2024-08	8166877	21304957	119908474	45	20177											
TAF1L	138474	broad.mit.edu	37	9	32634394	32634394	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr9:32634394A>G	ENST00000242310.4	-	1	1273	c.1184T>C	c.(1183-1185)gTg>gCg	p.V395A	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	395					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		AGATTTTATCACAGGTTCATG	0.458													42	223					0	0	1	0	0	G	32634394	A	G	32634394	3	3	103	1	0	0	0	0	1	0	0	0	15580	159	6	3	4300	3	TAF1L	9	32634394	Missense_Mutation	SNP	A	TCGA-DU-7010-01A-11D-2024-08	11329437	32634394	108579037	46	20178											
NUP188	23511	broad.mit.edu	37	9	131745580	131745580	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr9:131745580C>T	ENST00000372577.2	+	18	1826	c.1805C>T	c.(1804-1806)aCa>aTa	p.T602I		NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	602					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						AGGTTAACGACAGTGATCTCC	0.448													19	136					0	0	1	0	0	T	131745580	C	T	131745580	3	4	103	1	0	0	0	0	1	0	0	0	10806	478	17	2	1875	2	NUP188	9	131745580	Missense_Mutation	SNP	C	TCGA-DU-7010-01A-11D-2024-08	99111186	131745580	9467851	47	20179											
USP20	10868	broad.mit.edu	37	9	132631651	132631651	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr9:132631651G>T	ENST00000315480.4	+	13	1497	c.1339G>T	c.(1339-1341)Gac>Tac	p.D447Y	USP20_ENST00000358355.1_Missense_Mutation_p.D447Y|USP20_ENST00000372429.3_Missense_Mutation_p.D447Y			Q9Y2K6	UBP20_HUMAN	ubiquitin specific peptidase 20	447					endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|ubiquitin thiolesterase activity|zinc ion binding			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|urinary_tract(1)	11		Ovarian(14;0.00556)				CGTCATCTCAGACATCTTTGA	0.652													45	134					3.05275e-18	3.56154e-18	1	1	0	T	132631651	G	T	132631651	3	4	103	1	0	0	0	0	1	0	0	0	17112	942	33	4	1381	4	USP20	9	132631651	Missense_Mutation	SNP	G	TCGA-DU-7010-01A-11D-2024-08	886071	132631651	8581780	48	20180											
ANKRD26	22852	broad.mit.edu	37	10	27322258	27322258	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr10:27322258delG	ENST00000376087.4	-	25	3868	c.3703delC	c.(3703-3705)caafs	p.Q1235fs	ANKRD26_ENST00000376070.3_Frame_Shift_Del_p.Q792fs|ANKRD26_ENST00000436985.2_Frame_Shift_Del_p.Q1251fs	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	1234						centrosome				breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						GACATAGATTGTTTTTTTAGG	0.318													12	75	---	---	---	---						-	27322258	G	-	27322258	7	5	103	1	0	1	0	1	0	0	0	0	650	1386	48	0	1469	0	ANKRD26	10	27322258	Frame_Shift_Del	DEL	G	TCGA-DU-7010-01A-11D-2024-08		27322258	108212489	49	20181											
PLAU	5328	broad.mit.edu	37	10	75675025	75675025	+	Silent	SNP	G	G	A			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr10:75675025G>A	ENST00000446342.1	+	9	1418	c.936G>A	c.(934-936)ccG>ccA	p.P312P	PLAU_ENST00000372764.3_Silent_p.P329P|C10orf55_ENST00000412307.2_Intron|PLAU_ENST00000372762.4_Silent_p.P293P|C10orf55_ENST00000409178.1_Intron	NM_001145031.1	NP_001138503	P00749	UROK_HUMAN	plasminogen activator, urokinase	329	Peptidase S1.				blood coagulation|chemotaxis|fibrinolysis|proteolysis|regulation of cell adhesion mediated by integrin|regulation of receptor activity|regulation of smooth muscle cell migration|regulation of smooth muscle cell-matrix adhesion|signal transduction	cell surface|extracellular space|plasma membrane	serine-type endopeptidase activity			cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(3)|ovary(2)	16	Prostate(51;0.0112)				Amiloride(DB00594)|Urokinase(DB00013)	ATCTCTATCCGGAGCAGCTGA	0.512													21	87					0	0	1	0	0	A	75675025	G	A	75675025	2	1	103	1	0	0	0	0	0	0	0	1	12070	1103	39	1		1	PLAU	10	75675025	Silent	SNP	G	TCGA-DU-7010-01A-11D-2024-08	48352767	75675025	59859722	50	20182											
GPAM	57678	broad.mit.edu	37	10	113919721	113919721	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr10:113919721C>T	ENST00000348367.4	-	17	2047	c.1850G>A	c.(1849-1851)cGg>cAg	p.R617Q	GPAM_ENST00000369425.1_Missense_Mutation_p.R617Q|GPAM_ENST00000423155.1_Missense_Mutation_p.R617Q			Q9HCL2	GPAT1_HUMAN	glycerol-3-phosphate acyltransferase, mitochondrial	617					phospholipid biosynthetic process|triglyceride biosynthetic process	integral to membrane|mitochondrial outer membrane	glycerol-3-phosphate O-acyltransferase activity			breast(2)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31				Epithelial(162;0.0306)|all cancers(201;0.123)		GGCCGCCTTCCGCACCAGCTG	0.547													8	37					0	0	1	0	0	T	113919721	C	T	113919721	3	4	103	1	0	0	0	0	1	0	0	0	6628	652	23	1	660	1	GPAM	10	113919721	Missense_Mutation	SNP	C	TCGA-DU-7010-01A-11D-2024-08	38244696	113919721	21615026	51	20183											
DMBT1	1755	broad.mit.edu	37	10	124357525	124357525	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr10:124357525G>A	ENST00000368909.3	+	25	3059	c.2953G>A	c.(2953-2955)Gta>Ata	p.V985I	DMBT1_ENST00000368955.3_Missense_Mutation_p.V975I|DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000330163.4_Missense_Mutation_p.V486I|DMBT1_ENST00000338354.3_Missense_Mutation_p.V985I|DMBT1_ENST00000368956.2_Missense_Mutation_p.V486I|DMBT1_ENST00000344338.3_Missense_Mutation_p.V975I	NM_007329.2	NP_015568.2	Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	985					epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				TGCATCGACAGTAGGTAAATA	0.463													19	63					0	0	1	0	0	A	124357525	G	A	124357525	3	1	103	1	0	0	0	0	1	0	0	0	4605	1029	36	2	3051	2	DMBT1	10	124357525	Missense_Mutation	SNP	G	TCGA-DU-7010-01A-11D-2024-08	10437804	124357525	11177222	52	20184											
OR2AG2	338755	broad.mit.edu	37	11	6789861	6789861	+	Missense_Mutation	SNP	C	C	T	rs146279135	byFrequency	TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr11:6789861C>T	ENST00000338569.2	-	1	425	c.328G>A	c.(328-330)Gct>Act	p.A110T		NM_001004490.1	NP_001004490.1	A6NM03	O2AG2_HUMAN	olfactory receptor, family 2, subfamily AG, member 2	110					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(13)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1)	28		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)		Epithelial(150;2.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		AGGTCCTCAGCGCTACCCATT	0.522													16	27					0	0	1	0	0	T	6789861	C	T	6789861	3	4	103	1	0	0	0	0	1	0	0	0	11033	768	27	1	626	1	OR2AG2	11	6789861	Missense_Mutation	SNP	C	TCGA-DU-7010-01A-11D-2024-08		6789861	128216655	53	20185											
OR5M3	219482	broad.mit.edu	37	11	56237501	56237501	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr11:56237501G>T	ENST00000312240.2	-	1	513	c.473C>A	c.(472-474)aCa>aAa	p.T158K		NM_001004742.2	NP_001004742.2	Q8NGP4	OR5M3_HUMAN	olfactory receptor, family 5, subfamily M, member 3	158					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	37	Esophageal squamous(21;0.00448)					AGTCCATAATGTTGCTGCCAG	0.428													28	91					4.87955e-14	5.55396e-14	1	1	0	T	56237501	G	T	56237501	3	4	103	1	0	0	0	0	1	0	0	0	11222	1377	48	5	452	5	OR5M3	11	56237501	Missense_Mutation	SNP	G	TCGA-DU-7010-01A-11D-2024-08	49447640	56237501	78769015	54	20186											
GANAB	23193	broad.mit.edu	37	11	62400106	62400106	+	Silent	SNP	G	G	A			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr11:62400106G>A	ENST00000346178.4	-	10	1008	c.993C>T	c.(991-993)cgC>cgT	p.R331R	GANAB_ENST00000540933.1_Silent_p.R212R|GANAB_ENST00000534779.1_Silent_p.R217R|GANAB_ENST00000356638.3_Silent_p.R309R	NM_001278192.1|NM_198335.2	NP_001265121.1|NP_938149.2	Q14697	GANAB_HUMAN	glucosidase, alpha; neutral AB	309					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|Golgi apparatus|melanosome	carbohydrate binding|glucan 1,3-alpha-glucosidase activity|protein binding			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3)	35						TGCCCAAGTCGCGATGAGGGT	0.532													47	132					0	0	1	0	0	A	62400106	G	A	62400106	2	1	103	1	0	0	0	0	0	0	0	1	6273	1074	38	1		1	GANAB	11	62400106	Silent	SNP	G	TCGA-DU-7010-01A-11D-2024-08	6162605	62400106	72606410	55	20187											
OR6M1	390261	broad.mit.edu	37	11	123676272	123676272	+	Silent	SNP	G	G	A			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr11:123676272G>A	ENST00000309154.2	-	1	823	c.786C>T	c.(784-786)aaC>aaT	p.N262N		NM_001005325.1	NP_001005325.1	Q8NGM8	OR6M1_HUMAN	olfactory receptor, family 6, subfamily M, member 1	262					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(2)|skin(5)|urinary_tract(1)	29		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.028)		CCAGTGAGGAGTTCTGATTGG	0.498													11	34					0	0	1	0	0	A	123676272	G	A	123676272	2	1	103	1	0	0	0	0	0	0	0	1	11252	1020	36	2		2	OR6M1	11	123676272	Silent	SNP	G	TCGA-DU-7010-01A-11D-2024-08	61276166	123676272	11330244	56	20188											
KLRF1	51348	broad.mit.edu	37	12	9995006	9995006	+	Silent	SNP	G	G	A			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr12:9995006G>A	ENST00000279544.3	+	5	628	c.564G>A	c.(562-564)gtG>gtA	p.V188V	KLRF1_ENST00000354855.3_Intron|KLRF1_ENST00000324214.4_Silent_p.V138V|KLRF1_ENST00000537723.1_Intron	NM_016523.1	NP_057607	Q9NZS2	KLRF1_HUMAN	killer cell lectin-like receptor subfamily F, member 1	188	C-type lectin.				cell surface receptor linked signaling pathway	integral to plasma membrane	MHC class I receptor activity|sugar binding			breast(1)|endometrium(2)|large_intestine(4)|lung(6)	13						GGACTTGGGTGGATGGTTCTC	0.358													11	66					0	0	1	0	0	A	9995006	G	A	9995006	2	1	103	1	0	0	0	0	0	0	0	1	8463	1335	47	2		2	KLRF1	12	9995006	Silent	SNP	G	TCGA-DU-7010-01A-11D-2024-08		9995006	123856889	57	20189											
CUX2	23316	broad.mit.edu	37	12	111748299	111748299	+	Silent	SNP	C	C	A			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr12:111748299C>A	ENST00000261726.6	+	15	1867	c.1713C>A	c.(1711-1713)atC>atA	p.I571I		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	571						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						AACACAACATCGGGCAGCGGG	0.677													27	58					1.68575e-08	1.8295e-08	1	1	0	A	111748299	C	A	111748299	2	1	103	1	0	0	0	0	0	0	0	1	4088	874	31	5		5	CUX2	12	111748299	Silent	SNP	C	TCGA-DU-7010-01A-11D-2024-08	101753293	111748299	22103596	58	20190											
MAPKAPK5	8550	broad.mit.edu	37	12	112321472	112321472	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr12:112321472A>G	ENST00000550735.2	+	9	1504	c.748A>G	c.(748-750)Atc>Gtc	p.I250V	MAPKAPK5_ENST00000551404.2_Missense_Mutation_p.I250V	NM_003668.2|NM_139078.1	NP_003659.2|NP_620777.1	Q8IW41	MAPK5_HUMAN	mitogen-activated protein kinase-activated protein kinase 5	250	Protein kinase.				signal transduction	cytoplasm|nucleus	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity			endometrium(1)|lung(11)|ovary(1)	13						CAGCCGGACTATCCCAAAGGA	0.468													26	128					0	0	1	0	0	G	112321472	A	G	112321472	3	3	103	1	0	0	0	0	1	0	0	0	9341	449	16	3	782	3	MAPKAPK5	12	112321472	Missense_Mutation	SNP	A	TCGA-DU-7010-01A-11D-2024-08	573173	112321472	21530423	59	20191											
TRIM13	10206	broad.mit.edu	37	13	50586329	50586329	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr13:50586329A>G	ENST00000378182.3	+	2	991	c.253A>G	c.(253-255)Atc>Gtc	p.I85V	TRIM13_ENST00000420995.2_Missense_Mutation_p.I85V|TRIM13_ENST00000457662.2_Missense_Mutation_p.I85V|TRIM13_ENST00000356017.4_Missense_Mutation_p.I88V|TRIM13_ENST00000478111.1_Intron|TRIM13_ENST00000298772.5_Missense_Mutation_p.I88V	NM_001007278.1|NM_005798.3|NM_052811.2|NM_213590.1	NP_001007279.1|NP_005789.2|NP_434698.1|NP_998755.1	O60858	TRI13_HUMAN	tripartite motif containing 13	85					anatomical structure morphogenesis|ER-associated protein catabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination	cytoplasm|endoplasmic reticulum membrane|integral to membrane	protein binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			large_intestine(5)|lung(2)|ovary(2)|upper_aerodigestive_tract(1)	10		Acute lymphoblastic leukemia(7;3.41e-06)|Lung NSC(96;3.08e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;1.53e-10)|COAD - Colon adenocarcinoma(199;0.205)		GTATAACAAGATCAAGATCTC	0.438													53	28					0	0	1	0	0	G	50586329	A	G	50586329	3	3	103	1	0	0	0	0	1	0	0	0	16549	333	12	3	268	3	TRIM13	13	50586329	Missense_Mutation	SNP	A	TCGA-DU-7010-01A-11D-2024-08		50586329	64583549	60	20192											
CDH24	64403	broad.mit.edu	37	14	23523984	23523984	+	Silent	SNP	C	C	T			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr14:23523984C>T	ENST00000397359.3	-	4	847	c.588G>A	c.(586-588)ctG>ctA	p.L196L	CDH24_ENST00000554034.1_Silent_p.L196L|CDH24_ENST00000487137.2_Silent_p.L196L|CDH24_ENST00000267383.5_Silent_p.L196L	NM_022478.3	NP_071923.2	Q86UP0	CAD24_HUMAN	cadherin 24, type 2	196	Cadherin 2.				adherens junction organization|cell junction assembly|cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|delta-catenin binding			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00654)		AGAAGAAAGGCAGTCCATCCA	0.597											OREG0022594	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	24					0	0	1	0	0	T	23523984	C	T	23523984	2	4	103	1	0	0	0	0	0	0	0	1	3131	697	25	2		2	CDH24	14	23523984	Silent	SNP	C	TCGA-DU-7010-01A-11D-2024-08		23523984	83825556	61	20193											
NFATC4	4776	broad.mit.edu	37	14	24839464	24839464	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr14:24839464G>A	ENST00000413692.2	+	3	1193	c.1049G>A	c.(1048-1050)cGt>cAt	p.R350H	NFATC4_ENST00000555453.1_Missense_Mutation_p.R275H|NFATC4_ENST00000422617.3_Missense_Mutation_p.R275H|NFATC4_ENST00000553469.1_Missense_Mutation_p.R319H|NFATC4_ENST00000250373.4_Missense_Mutation_p.R287H|NFATC4_ENST00000553879.1_Missense_Mutation_p.R217H|NFATC4_ENST00000440487.2_3'UTR|NFATC4_ENST00000557451.1_Missense_Mutation_p.R217H|NFATC4_ENST00000556169.1_Missense_Mutation_p.R275H|NFATC4_ENST00000556279.1_Missense_Mutation_p.R319H|NFATC4_ENST00000554050.1_Missense_Mutation_p.R287H|NFATC4_ENST00000554591.1_Missense_Mutation_p.R350H|NFATC4_ENST00000554344.1_Missense_Mutation_p.R217H|NFATC4_ENST00000553708.1_Missense_Mutation_p.R287H|NFATC4_ENST00000424781.2_Missense_Mutation_p.R300H|NFATC4_ENST00000555590.1_Missense_Mutation_p.R300H|NFATC4_ENST00000539237.2_Missense_Mutation_p.R319H|NFATC4_ENST00000554661.1_Missense_Mutation_p.R217H|NFATC4_ENST00000554966.1_Missense_Mutation_p.R300H	NM_001136022.1|NM_001198967.1	NP_001129494.1|NP_001185896.1	Q14934	NFAC4_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4	287					cell differentiation|inflammatory response|transcription from RNA polymerase II promoter	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2)	34				GBM - Glioblastoma multiforme(265;0.018)		CTGTCCCGCCGTGGCAGCCTG	0.706													18	19					0	0	1	0	0	A	24839464	G	A	24839464	3	1	103	1	0	0	0	0	1	0	0	0	10412	1145	40	1	1059	1	NFATC4	14	24839464	Missense_Mutation	SNP	G	TCGA-DU-7010-01A-11D-2024-08	1315480	24839464	82510076	62	20194											
NKX2-8	26257	broad.mit.edu	37	14	37051529	37051529	+	Silent	SNP	C	C	T			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr14:37051529C>T	ENST00000258829.5	-	1	283	c.66G>A	c.(64-66)gcG>gcA	p.A22A		NM_014360.2	NP_055175.2	O15522	NKX28_HUMAN	NK2 homeobox 8	22					liver development|transcription from RNA polymerase II promoter	nucleus	double-stranded DNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			upper_aerodigestive_tract(1)	1	Breast(36;0.143)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)		Lung(8;1.12e-09)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.00357)|all cancers(34;0.0113)|LUSC - Lung squamous cell carcinoma(13;0.0189)	GBM - Glioblastoma multiforme(112;0.0171)		GCAGGTGTTGCGCGTCCTGCT	0.701													3	17					0	0	1	0	0	T	37051529	C	T	37051529	2	4	103	1	0	0	0	0	0	0	0	1	10501	755	27	1		1	NKX2-8	14	37051529	Silent	SNP	C	TCGA-DU-7010-01A-11D-2024-08	12212065	37051529	70298011	63	20195											
ACOT4	122970	broad.mit.edu	37	14	74060453	74060453	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr14:74060453G>A	ENST00000326303.4	+	2	759	c.505G>A	c.(505-507)Ggc>Agc	p.G169S		NM_152331.3	NP_689544.3	Q8N9L9	ACOT4_HUMAN	acyl-CoA thioesterase 4	169					acyl-CoA metabolic process|dicarboxylic acid metabolic process|long-chain fatty acid metabolic process|saturated monocarboxylic acid metabolic process|short-chain fatty acid metabolic process|succinyl-CoA metabolic process|unsaturated monocarboxylic acid metabolic process|very long-chain fatty acid metabolic process	peroxisome	carboxylesterase activity|palmitoyl-CoA hydrolase activity			endometrium(1)|large_intestine(3)|lung(4)	8				BRCA - Breast invasive adenocarcinoma(234;0.00331)		TATTGGAGGGGGCCTCTTGGA	0.428													21	59					0	0	1	0	0	A	74060453	G	A	74060453	3	1	103	1	0	0	0	0	1	0	0	0	153	1232	43	2	511	2	ACOT4	14	74060453	Missense_Mutation	SNP	G	TCGA-DU-7010-01A-11D-2024-08	37008924	74060453	33289087	64	20196											
AHNAK2	113146	broad.mit.edu	37	14	105408008	105408008	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr14:105408008C>T	ENST00000333244.5	-	7	13899	c.13780G>A	c.(13780-13782)Gtg>Atg	p.V4594M	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4594						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TCCGTCTCCACGCTGGGCAGA	0.642													33	86					0	0	1	0	0	T	105408008	C	T	105408008	3	4	103	1	0	0	0	0	1	0	0	0	412	536	19	1	3611	1	AHNAK2	14	105408008	Missense_Mutation	SNP	C	TCGA-DU-7010-01A-11D-2024-08	31347555	105408008	1941532	65	20197											
TJP1	7082	broad.mit.edu	37	15	30058630	30058630	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr15:30058630C>T	ENST00000346128.6	-	5	902	c.428G>A	c.(427-429)cGg>cAg	p.R143Q	TJP1_ENST00000400011.2_Missense_Mutation_p.R147Q|TJP1_ENST00000545208.2_Missense_Mutation_p.R143Q|TJP1_ENST00000356107.6_Missense_Mutation_p.R143Q|TJP1_ENST00000495972.2_Missense_Mutation_p.R143Q	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN	tight junction protein 1	143					cell-cell junction assembly|cellular component disassembly involved in apoptosis	basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		CACACCACTCCGGCCACTTCT	0.468													21	65					0	0	1	0	0	T	30058630	C	T	30058630	3	4	103	1	0	0	0	0	1	0	0	0	15989	652	23	1	4914	1	TJP1	15	30058630	Missense_Mutation	SNP	C	TCGA-DU-7010-01A-11D-2024-08		30058630	72472762	66	20198											
DISP2	85455	broad.mit.edu	37	15	40656103	40656103	+	Missense_Mutation	SNP	C	C	A	rs150939222		TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr15:40656103C>A	ENST00000267889.3	+	2	484	c.397C>A	c.(397-399)Cgc>Agc	p.R133S		NM_033510.1	NP_277045.1	A7MBM2	DISP2_HUMAN	dispatched homolog 2 (Drosophila)	133					smoothened signaling pathway	integral to membrane				breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)	30		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)		CCCCTCACAGCGCGATGGGAC	0.657													6	45					0.0215528	0.0218651	1	1	0	A	40656103	C	A	40656103	3	1	103	1	0	0	0	0	1	0	0	0	4568	768	27	5	403	5	DISP2	15	40656103	Missense_Mutation	SNP	C	TCGA-DU-7010-01A-11D-2024-08	10597473	40656103	61875289	67	20199											
ITPRIPL2	162073	broad.mit.edu	37	16	19126381	19126381	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr16:19126381G>T	ENST00000381440.3	+	1	1128	c.598G>T	c.(598-600)Gcc>Tcc	p.A200S	CTD-2349B8.1_ENST00000564808.2_Intron	NM_001034841.3	NP_001030013.1	Q3MIP1	IPIL2_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein-like 2	200						integral to membrane				endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						GCCAGCGCTGGCCCCGGCCTT	0.706											OREG0023657	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	28					7.03913e-09	7.69904e-09	1	1	0	T	19126381	G	T	19126381	3	4	103	1	0	0	0	0	1	0	0	0	7969	1203	42	5	600	5	ITPRIPL2	16	19126381	Missense_Mutation	SNP	G	TCGA-DU-7010-01A-11D-2024-08		19126381	71228372	68	20200											
RBBP6	5930	broad.mit.edu	37	16	24581321	24581321	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr16:24581321delC	ENST00000319715.4	+	17	3742	c.3310delC	c.(3310-3312)ccafs	p.P1104fs	RBBP6_ENST00000348022.2_Frame_Shift_Del_p.P1070fs|RBBP6_ENST00000381039.3_Intron	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	1104	Interaction with RB1 (By similarity).				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		AGAAACAAAACCAGTCAAAGA	0.368													20	30	---	---	---	---						-	24581321	C	-	24581321	7	5	103	1	0	1	0	1	0	0	0	0	13155	507	18	0	3430	0	RBBP6	16	24581321	Frame_Shift_Del	DEL	C	TCGA-DU-7010-01A-11D-2024-08	5454940	24581321	65773432	69	20201											
SDR42E1	93517	broad.mit.edu	37	16	82034402	82034402	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr16:82034402C>G	ENST00000328945.5	-	2	189	c.62G>C	c.(61-63)gGt>gCt	p.G21A	SDR42E1_ENST00000534209.1_5'UTR	NM_145168.2	NP_660151.2	Q8WUS8	D42E1_HUMAN	short chain dehydrogenase/reductase family 42E, member 1	21					steroid biosynthetic process	integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding			NS(2)|endometrium(1)|lung(4)|skin(3)	10						TTACCGAAAACCAAAATAGCC	0.383													13	56					0	0	1	0	0	G	82034402	C	G	82034402	3	3	103	1	0	0	0	0	1	0	0	0	14027	507	18	5	1127	5	SDR42E1	16	82034402	Missense_Mutation	SNP	C	TCGA-DU-7010-01A-11D-2024-08	57453081	82034402	8320351	70	20202											
TP53	7157	broad.mit.edu	37	17	7578394	7578394	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr17:7578394T>C	ENST00000420246.2	-	5	668	c.536A>G	c.(535-537)cAt>cGt	p.H179R	TP53_ENST00000359597.4_Missense_Mutation_p.H179R|TP53_ENST00000413465.2_Missense_Mutation_p.H179R|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000269305.4_Missense_Mutation_p.H179R|TP53_ENST00000455263.2_Missense_Mutation_p.H179R|TP53_ENST00000445888.2_Missense_Mutation_p.H179R	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	179	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).|HH -> QS (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.H179R(108)|p.H179L(43)|p.P177_C182delPHHERC(8)|p.0?(8)|p.H47L(4)|p.H86L(4)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H179P(3)|p.H178_S183delHHERCS(3)|p.R175_E180delRCPHHE(3)|p.P177fs*3(2)|p.V173fs*59(2)|p.H86R(2)|p.H47R(2)|p.R174fs*1(2)|p.H179fs*68(1)|p.C176fs*65(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H46_S51delHHERCS(1)|p.H178fs*6(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.H85_S90delHHERCS(1)|p.E171fs*1(1)|p.R174fs*3(1)|p.E171fs*61(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)		GCAGCGCTCATGGTGGGGGCA	0.642		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)			35	8					0	0	1	0	0	C	7578394	T	C	7578394	3	2	103	1	0	0	0	0	1	0	0	0	16442	1464	51	3	762	3	TP53	17	7578394	Missense_Mutation	SNP	T	TCGA-DU-7010-01A-11D-2024-08		7578394	73616816	71	20203											
MFSD6L	162387	broad.mit.edu	37	17	8701438	8701438	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr17:8701438G>T	ENST00000329805.4	-	1	1229	c.1001C>A	c.(1000-1002)gCc>gAc	p.A334D		NM_152599.3	NP_689812.3	Q8IWD5	MFS6L_HUMAN	major facilitator superfamily domain containing 6-like	334						integral to membrane		p.A334V(1)		central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|skin(4)	17						CACCAGTAAGGCCAGGGTGCT	0.597													5	35					0.014758	0.0150812	1	1	0	T	8701438	G	T	8701438	3	4	103	1	0	0	0	0	1	0	0	0	9586	1203	42	5	763	5	MFSD6L	17	8701438	Missense_Mutation	SNP	G	TCGA-DU-7010-01A-11D-2024-08	1123044	8701438	72493772	72	20204											
WFIKKN2	124857	broad.mit.edu	37	17	48917362	48917362	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr17:48917362G>A	ENST00000311378.4	+	2	1241	c.713G>A	c.(712-714)cGg>cAg	p.R238Q	WFIKKN2_ENST00000426127.1_Missense_Mutation_p.R145Q	NM_175575.5	NP_783165.1	Q8TEU8	WFKN2_HUMAN	WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2	238	Ig-like C2-type.					extracellular region	metalloendopeptidase inhibitor activity|protein binding|serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(13)|ovary(4)|skin(1)	29			BRCA - Breast invasive adenocarcinoma(22;1.09e-08)			GGCCGGCCCCGGCCTGAGATC	0.622													7	41					0	0	1	0	0	A	48917362	G	A	48917362	3	1	103	1	0	0	0	0	1	0	0	0	17419	1116	39	1	719	1	WFIKKN2	17	48917362	Missense_Mutation	SNP	G	TCGA-DU-7010-01A-11D-2024-08	40215924	48917362	32277848	73	20205											
HSF5	124535	broad.mit.edu	37	17	56540259	56540259	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr17:56540259G>C	ENST00000323777.3	-	4	1535	c.1426C>G	c.(1426-1428)Cag>Gag	p.Q476E		NM_001080439.1	NP_001073908.1	Q4G112	HSF5_HUMAN	heat shock transcription factor family member 5	476						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|skin(1)	16	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GCAGATTCCTGTATTGTGCTA	0.468													85	75					0	0	1	0	0	C	56540259	G	C	56540259	3	2	103	1	0	0	0	0	1	0	0	0	7440	1386	48	5	376	5	HSF5	17	56540259	Missense_Mutation	SNP	G	TCGA-DU-7010-01A-11D-2024-08	7622897	56540259	24654951	74	20206											
CSH1	1442	broad.mit.edu	37	17	61972426	61972426	+	Missense_Mutation	SNP	G	G	A	rs139446025	byFrequency	TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr17:61972426G>A	ENST00000316193.8	-	5	751	c.610C>T	c.(610-612)Cgc>Tgc	p.R204C	CSH1_ENST00000329882.8_3'UTR|CSH1_ENST00000453363.3_Missense_Mutation_p.R109C	NM_001317.5	NP_001308.1	P01243	CSH_HUMAN	chorionic somatomammotropin hormone 1 (placental lactogen)	204					female pregnancy|signal transduction	extracellular region	hormone activity|metal ion binding			central_nervous_system(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	8						TGCACCATGCGCAGGAATGTC	0.582									Russell-Silver syndrome				18	112					0	0	1	0	0	A	61972426	G	A	61972426	3	1	103	1	0	0	0	0	1	0	0	0	3965	1087	38	1	47	1	CSH1	17	61972426	Missense_Mutation	SNP	G	TCGA-DU-7010-01A-11D-2024-08	5432167	61972426	19222784	75	20207											
EVPL	2125	broad.mit.edu	37	17	74003589	74003589	+	Silent	SNP	G	G	T			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr17:74003589G>T	ENST00000301607.3	-	22	5950	c.5697C>A	c.(5695-5697)gcC>gcA	p.A1899A	EVPL_ENST00000586740.1_Silent_p.A1921A	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	1899	Globular 2.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						AGGCCTTCTGGGCGTTAAGCA	0.652													15	108					2.32078e-09	2.55835e-09	1	1	0	T	74003589	G	T	74003589	2	4	103	1	0	0	0	0	0	0	0	1	5320	1219	43	5		5	EVPL	17	74003589	Silent	SNP	G	TCGA-DU-7010-01A-11D-2024-08	12031163	74003589	7191621	76	20208											
JMJD6	23210	broad.mit.edu	37	17	74716489	74716489	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr17:74716489C>T	ENST00000445478.2	-	5	1236	c.1033G>A	c.(1033-1035)Gac>Aac	p.D345N	JMJD6_ENST00000585429.1_Intron|JMJD6_ENST00000397625.4_Missense_Mutation_p.D345N	NM_001081461.1	NP_001074930.1	Q6NYC1	JMJD6_HUMAN	jumonji domain containing 6	345	Ser-rich.				mRNA processing|peptidyl-lysine hydroxylation to 5-hydroxy-L-lysine|regulation of nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|RNA splicing|sprouting angiogenesis|transcription, DNA-dependent	nucleolus|nucleoplasm	histone demethylase activity (H3-R2 specific)|histone demethylase activity (H4-R3 specific)|identical protein binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptidyl-lysine 5-dioxygenase activity|single-stranded RNA binding			endometrium(2)|kidney(5)|large_intestine(2)|lung(3)|ovary(2)|skin(2)	16						CTGGAAGAGTCGCTGGAGCTG	0.582													10	75					0	0	1	0	0	T	74716489	C	T	74716489	3	4	103	1	0	0	0	0	1	0	0	0	7997	884	31	1	227	1	JMJD6	17	74716489	Missense_Mutation	SNP	C	TCGA-DU-7010-01A-11D-2024-08	712900	74716489	6478721	77	20209											
RIOK3	8780	broad.mit.edu	37	18	21047458	21047458	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr18:21047458G>T	ENST00000339486.3	+	7	1400	c.783G>T	c.(781-783)aaG>aaT	p.K261N	RIOK3_ENST00000577501.1_Missense_Mutation_p.K261N|RIOK3_ENST00000581585.1_Missense_Mutation_p.K245N	NM_003831.3	NP_003822.2	O14730	RIOK3_HUMAN	RIO kinase 3	261	Protein kinase.				chromosome segregation		ATP binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(3)|ovary(2)	10	all_cancers(21;0.000106)|all_epithelial(16;6.74e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0202)|Ovarian(20;0.127)					GTACAGGAAAGGAGTCTGTTG	0.368													9	77					4.68919e-08	5.0499e-08	1	1	0	T	21047458	G	T	21047458	3	4	103	1	0	0	0	0	1	0	0	0	13431	991	35	4	809	4	RIOK3	18	21047458	Missense_Mutation	SNP	G	TCGA-DU-7010-01A-11D-2024-08		21047458	57029790	78	20210											
HRH4	59340	broad.mit.edu	37	18	22056724	22056724	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr18:22056724C>G	ENST00000256906.4	+	3	471	c.371C>G	c.(370-372)aCt>aGt	p.T124S	HRH4_ENST00000426880.2_Intron	NM_001160166.1|NM_021624.3	NP_001153638.1|NP_067637.2	Q9H3N8	HRH4_HUMAN	histamine receptor H4	124						integral to membrane|plasma membrane	histamine receptor activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22	all_cancers(21;0.000545)|all_epithelial(16;6.56e-06)|Lung NSC(20;0.0027)|all_lung(20;0.0085)|Colorectal(14;0.0361)|Ovarian(20;0.0991)				Clozapine(DB00363)	TCTTATAGAACTCAACATACT	0.378													12	95					0	0	1	0	0	G	22056724	C	G	22056724	3	3	103	1	0	0	0	0	1	0	0	0	7399	565	20	4	381	4	HRH4	18	22056724	Missense_Mutation	SNP	C	TCGA-DU-7010-01A-11D-2024-08	1009266	22056724	56020524	79	20211											
GALNT1	2589	broad.mit.edu	37	18	33257583	33257583	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr18:33257583C>T	ENST00000269195.5	+	3	446	c.343C>T	c.(343-345)Ctt>Ttt	p.L115F	GALNT1_ENST00000537549.1_Missense_Mutation_p.L55F	NM_020474.3	NP_065207.2	Q10472	GALT1_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 1 (GalNAc-T1)	115	Catalytic subdomain A.				protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	extracellular region|Golgi cisterna membrane|integral to membrane|perinuclear region of cytoplasm	manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(4)|stomach(1)	21						TCCAGATAATCTTCCTACAAC	0.388													15	110					0	0	1	0	0	T	33257583	C	T	33257583	3	4	103	1	0	0	0	0	1	0	0	0	6247	913	32	2	353	2	GALNT1	18	33257583	Missense_Mutation	SNP	C	TCGA-DU-7010-01A-11D-2024-08	11200859	33257583	44819665	80	20212											
ABCA7	10347	broad.mit.edu	37	19	1042063	1042063	+	Splice_Site	SNP	G	G	A			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr19:1042063G>A	ENST00000263094.6	+	5	534	c.303G>A	c.(301-303)ctG>ctA	p.L101L	ABCA7_ENST00000433129.1_Splice_Site_p.L101L	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	101					phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity			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)		CTGTCCCCAGGGTCTCCCGGC	0.711													3	11					0	0	1	0	0	A	1042063	G	A	1042063	5	1	103	1	0	0	0	0	0	0	1	0	37	1246	43	2	317	2	ABCA7	19	1042063	Splice_Site	SNP	G	TCGA-DU-7010-01A-11D-2024-08		1042063	58086920	81	20213											
OR7G3	390883	broad.mit.edu	37	19	9237223	9237223	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr19:9237223A>T	ENST00000305444.2	-	1	403	c.404T>A	c.(403-405)aTc>aAc	p.I135N		NM_001001958.1	NP_001001958.1	Q8NG95	OR7G3_HUMAN	olfactory receptor, family 7, subfamily G, member 3	135					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15						GGGGTTCATGATGACATTGTA	0.488													18	79					0	0	1	0	0	T	9237223	A	T	9237223	3	4	103	1	0	0	0	0	1	0	0	0	11271	333	12	4	537	4	OR7G3	19	9237223	Missense_Mutation	SNP	A	TCGA-DU-7010-01A-11D-2024-08	8195160	9237223	49891760	82	20214											
KLF1	10661	broad.mit.edu	37	19	12996674	12996674	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr19:12996674delC	ENST00000264834.4	-	2	410	c.370delG	c.(370-372)gctfs	p.A124fs		NM_006563.3	NP_006554.1	Q13351	KLF1_HUMAN	Kruppel-like factor 1 (erythroid)	124	Pro-rich.				erythrocyte differentiation|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(3)|large_intestine(1)|skin(1)	5		Hepatocellular(1079;0.137)		GBM - Glioblastoma multiforme(1328;0.00016)|Lung(535;0.171)|STAD - Stomach adenocarcinoma(1328;0.18)		AAAAGCCCAGCCACCAGCCCC	0.746													2	4	---	---	---	---						-	12996674	C	-	12996674	7	5	103	1	0	1	0	1	0	0	0	0	8380	739	26	0	726	0	KLF1	19	12996674	Frame_Shift_Del	DEL	C	TCGA-DU-7010-01A-11D-2024-08	3759451	12996674	46132309	83	20215											
ZNF30	90075	broad.mit.edu	37	19	35434793	35434793	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr19:35434793G>T	ENST00000439785.1	+	5	1370	c.926G>T	c.(925-927)aGa>aTa	p.R309I	ZNF30_ENST00000426813.2_Missense_Mutation_p.R227I|ZNF30_ENST00000601957.1_3'UTR|ZNF30_ENST00000303586.7_Missense_Mutation_p.R309I|ZNF30_ENST00000601142.1_Missense_Mutation_p.R308I	NM_001099438.1	NP_001092908.1	P17039	ZNF30_HUMAN	zinc finger protein 30	308					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)	16	all_lung(56;8.38e-08)|Lung NSC(56;1.31e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)	GBM - Glioblastoma multiforme(1328;0.0265)		AAGCATCAGAGAATTCATACT	0.448													33	64					1.36161e-19	1.6019e-19	1	1	0	T	35434793	G	T	35434793	3	4	103	1	0	0	0	0	1	0	0	0	17887	942	33	4	940	4	ZNF30	19	35434793	Missense_Mutation	SNP	G	TCGA-DU-7010-01A-11D-2024-08	22438119	35434793	23694190	84	20216											
SPTBN4	57731	broad.mit.edu	37	19	41066266	41066266	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr19:41066266A>G	ENST00000352632.3	+	27	5958	c.5872A>G	c.(5872-5874)Atg>Gtg	p.M1958V	SPTBN4_ENST00000598249.1_Missense_Mutation_p.M1958V|SPTBN4_ENST00000595535.1_Missense_Mutation_p.M1958V|SPTBN4_ENST00000338932.3_Missense_Mutation_p.M1958V|SPTBN4_ENST00000392023.1_Missense_Mutation_p.M634V|SPTBN4_ENST00000392025.1_Missense_Mutation_p.M701V			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	1958					actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GCTCTCCTGGATGGATGGCAT	0.667													13	76					0	0	1	0	0	G	41066266	A	G	41066266	3	3	103	1	0	0	0	0	1	0	0	0	15177	333	12	3	5974	3	SPTBN4	19	41066266	Missense_Mutation	SNP	A	TCGA-DU-7010-01A-11D-2024-08	5631473	41066266	18062717	85	20217											
NKPD1	284353	broad.mit.edu	37	19	45655769	45655771	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr19:45655769_45655771delCTG	ENST00000317951.4	-	4	1923_1925	c.1924_1926delCAG	c.(1924-1926)cagdel	p.Q642del	NKPD1_ENST00000589776.1_In_Frame_Del_p.Q420del|NKPD1_ENST00000438936.2_In_Frame_Del_p.Q420del|NKPD1_ENST00000429338.1_In_Frame_Del_p.Q420del	NM_198478.3	NP_940880.3			NTPase, KAP family P-loop domain containing 1											endometrium(1)|lung(4)|prostate(2)|urinary_tract(1)	8		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00863)|GBM - Glioblastoma multiforme(486;0.231)		CAAAGTCCCCCTGCTGCTGCTGC	0.704													7	328	---	---	---	---						-	45655771	CTG	-	45655769	7	5	103	1	0	1	0	1	0	0	0	0	10493	680	24	0	576	0	NKPD1	19	45655769	In_Frame_Del	DEL	CTG	TCGA-DU-7010-01A-11D-2024-08	4589503	45655769	13473214	86	20218											
SULT2B1	6820	broad.mit.edu	37	19	49094920	49094920	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr19:49094920T>A	ENST00000323090.4	+	3	808	c.433T>A	c.(433-435)Tcc>Acc	p.S145T	SULT2B1_ENST00000201586.2_Missense_Mutation_p.S160T|SULT2B1_ENST00000594274.1_3'UTR	NM_004605.2	NP_004596.2	O00204	ST2B1_HUMAN	sulfotransferase family, cytosolic, 2B, member 1	160					3'-phosphoadenosine 5'-phosphosulfate metabolic process|steroid metabolic process|xenobiotic metabolic process	cytosol	alcohol sulfotransferase activity|protein binding|steroid sulfotransferase activity			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|skin(2)|urinary_tract(1)	11		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000115)|all cancers(93;0.000147)|GBM - Glioblastoma multiforme(486;0.00707)|Epithelial(262;0.0178)		CTATCATTACTCCAAGATCGC	0.612													3	23					0	0	1	0	0	A	49094920	T	A	49094920	3	1	103	1	0	0	0	0	1	0	0	0	15438	1551	54	5	518	5	SULT2B1	19	49094920	Missense_Mutation	SNP	T	TCGA-DU-7010-01A-11D-2024-08	3439151	49094920	10034063	87	20219											
SCAF1	58506	broad.mit.edu	37	19	50156700	50156700	+	Silent	SNP	A	A	C			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr19:50156700A>C	ENST00000360565.3	+	7	3178	c.3054A>C	c.(3052-3054)cgA>cgC	p.R1018R		NM_021228.2	NP_067051.2	Q9H7N4	SFR19_HUMAN	SR-related CTD-associated factor 1	1018	Glu-rich.				mRNA processing|RNA splicing	nucleus	RNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	20		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)		CTGGGGTCCGAGGTGGGGCgg	0.657													182	6					0	0	1	0	0	C	50156700	A	C	50156700	2	2	103	1	0	0	0	0	0	0	0	1	13921	291	11	5		5	SCAF1	19	50156700	Silent	SNP	A	TCGA-DU-7010-01A-11D-2024-08	1061780	50156700	8972283	88	20220											
C19orf48	84798	broad.mit.edu	37	19	51301536	51301536	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr19:51301536G>A	ENST00000598463.1	-	5	1268	c.170C>T	c.(169-171)cCa>cTa	p.P57L	C19orf48_ENST00000596655.1_Missense_Mutation_p.P57L|C19orf48_ENST00000391812.1_Missense_Mutation_p.P57L|C19orf48_ENST00000345523.4_Missense_Mutation_p.P57L			Q6RUI8	CS048_HUMAN	chromosome 19 open reading frame 48	57										endometrium(1)|kidney(1)|lung(1)|ovary(1)	4		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00531)|GBM - Glioblastoma multiforme(134;0.0145)		GGAAGCCCTTGGTAGCCCACT	0.647													25	140					0	0	1	0	0	A	51301536	G	A	51301536	3	1	103	1	0	0	0	0	1	0	0	0	1943	1348	47	2	187	2	C19orf48	19	51301536	Missense_Mutation	SNP	G	TCGA-DU-7010-01A-11D-2024-08	1144836	51301536	7827447	89	20221											
C19orf48	84798	broad.mit.edu	37	19	51301602	51301602	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr19:51301602G>A	ENST00000598463.1	-	5	1202	c.104C>T	c.(103-105)cCa>cTa	p.P35L	C19orf48_ENST00000596655.1_Missense_Mutation_p.P35L|C19orf48_ENST00000391812.1_Missense_Mutation_p.P35L|C19orf48_ENST00000345523.4_Missense_Mutation_p.P35L			Q6RUI8	CS048_HUMAN	chromosome 19 open reading frame 48	35										endometrium(1)|kidney(1)|lung(1)|ovary(1)	4		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00531)|GBM - Glioblastoma multiforme(134;0.0145)		GCACTGGGTTGGGTCCCAGCA	0.642													25	134					0	0	1	0	0	A	51301602	G	A	51301602	3	1	103	1	0	0	0	0	1	0	0	0	1943	1348	47	2	253	2	C19orf48	19	51301602	Missense_Mutation	SNP	G	TCGA-DU-7010-01A-11D-2024-08	66	51301602	7827381	90	20222											
PRPF31	26121	broad.mit.edu	37	19	54629912	54629912	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr19:54629912C>T	ENST00000321030.4	+	9	1214	c.865C>T	c.(865-867)Cgg>Tgg	p.R289W	PRPF31_ENST00000498612.1_3'UTR|PRPF31_ENST00000419967.1_Missense_Mutation_p.R289W|PRPF31_ENST00000391755.1_Missense_Mutation_p.R289W	NM_015629.3	NP_056444.3	Q8WWY3	PRP31_HUMAN	pre-mRNA processing factor 31	289	Nop.				assembly of spliceosomal tri-snRNP	Cajal body|MLL1 complex|nuclear speck|U4 snRNP|U4/U6 x U5 tri-snRNP complex|U4atac snRNP	RNA binding|snRNP binding			breast(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(2)|urinary_tract(3)	12	all_cancers(19;0.00681)|all_epithelial(19;0.00362)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					GGATCTGCGGCGGAAAGCGGC	0.617													5	20					0	0	1	0	0	T	54629912	C	T	54629912	3	4	103	1	0	0	0	0	1	0	0	0	12618	759	27	1	895	1	PRPF31	19	54629912	Missense_Mutation	SNP	C	TCGA-DU-7010-01A-11D-2024-08	3328310	54629912	4499071	91	20223											
PTPRH	5794	broad.mit.edu	37	19	55710148	55710148	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr19:55710148G>A	ENST00000376350.3	-	8	1575	c.1553C>T	c.(1552-1554)aCt>aTt	p.T518I	PTPRH_ENST00000263434.5_Missense_Mutation_p.T340I|PTPRH_ENST00000588559.1_5'UTR	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	518	Fibronectin type-III 6.				apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		CCTGGGGTCAGTCATGCCTTC	0.592													10	30					0	0	1	0	0	A	55710148	G	A	55710148	3	1	103	1	0	0	0	0	1	0	0	0	12855	1029	36	2	1846	2	PTPRH	19	55710148	Missense_Mutation	SNP	G	TCGA-DU-7010-01A-11D-2024-08	1080236	55710148	3418835	92	20224											
BCL2L13	23786	broad.mit.edu	37	22	18185020	18185020	+	Silent	SNP	T	T	G			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr22:18185020T>G	ENST00000317582.5	+	6	815	c.468T>G	c.(466-468)ccT>ccG	p.P156P	BCL2L13_ENST00000418951.2_Intron|BCL2L13_ENST00000337612.5_5'UTR|BCL2L13_ENST00000493680.1_Silent_p.P156P|BCL2L13_ENST00000543133.1_5'UTR|BCL2L13_ENST00000538149.1_Silent_p.P32P|BCL2L13_ENST00000355028.3_Intron|BCL2L13_ENST00000399782.1_Silent_p.P156P	NM_015367.3	NP_056182.2	Q9BXK5	B2L13_HUMAN	BCL2-like 13 (apoptosis facilitator)	156					induction of apoptosis	integral to membrane|mitochondrial membrane|nucleus	caspase activator activity			breast(2)|central_nervous_system(1)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|skin(3)|urinary_tract(2)	15		all_epithelial(15;0.123)		Lung(27;0.199)		TTTTGGTGCCTCTGGTTTTGC	0.363													11	90					0	0	1	0	0	G	18185020	T	G	18185020	2	3	103	1	0	0	0	0	0	0	0	1	1369	1538	54	5		5	BCL2L13	22	18185020	Silent	SNP	T	TCGA-DU-7010-01A-11D-2024-08		18185020	33119546	93	20225											
CYTH4	27128	broad.mit.edu	37	22	37696974	37696974	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr22:37696974C>T	ENST00000248901.6	+	7	648	c.461C>T	c.(460-462)cCg>cTg	p.P154L	CYTH4_ENST00000439667.1_3'UTR	NM_013385.3	NP_037517.1	Q9UIA0	CYH4_HUMAN	cytohesin 4	154	SEC7.				regulation of ARF protein signal transduction|regulation of cell adhesion	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(2)|stomach(1)	15						TTCCGGCTGCCGGGCGAGGCC	0.667													3	18					0	0	1	0	0	T	37696974	C	T	37696974	3	4	103	1	0	0	0	0	1	0	0	0	4229	652	23	1	487	1	CYTH4	22	37696974	Missense_Mutation	SNP	C	TCGA-DU-7010-01A-11D-2024-08	19511954	37696974	13607592	94	20226											
CPT1B	1375	broad.mit.edu	37	22	51011381	51011381	+	Silent	SNP	G	G	C			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr22:51011381G>C	ENST00000360719.2	-	11	1412	c.1275C>G	c.(1273-1275)tcC>tcG	p.S425S	CPT1B_ENST00000434492.2_Silent_p.S222S|CPT1B_ENST00000440709.1_Intron|CPT1B_ENST00000395650.2_Silent_p.S425S|CPT1B_ENST00000457250.1_Silent_p.S391S|CPT1B_ENST00000312108.7_Silent_p.S425S|CHKB-CPT1B_ENST00000453634.1_3'UTR|CPT1B_ENST00000405237.3_Silent_p.S425S	NM_001145135.1|NM_152245.2	NP_001138607.1|NP_689451.1	Q92523	CPT1B_HUMAN	carnitine palmitoyltransferase 1B (muscle)	425					carnitine shuttle|fatty acid beta-oxidation|regulation of fatty acid oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		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)		all cancers(3;3.56e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.39e-74)|Epithelial(4;5.58e-70)|GBM - Glioblastoma multiforme(4;5.59e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.207)		CATAGGAGTAGGATTCCTCAT	0.602													5	66					0	0	1	0	0	C	51011381	G	C	51011381	2	2	103	1	0	0	0	0	0	0	0	1	3855	987	35	4		4	CPT1B	22	51011381	Silent	SNP	G	TCGA-DU-7010-01A-11D-2024-08	13314407	51011381	293185	95	20227											
CRLF2	64109	broad.mit.edu	37	X	1321390	1321390	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chrX:1321390G>A	ENST00000381567.3	-	4	364	c.365C>T	c.(364-366)cCg>cTg	p.P122L	CRLF2_ENST00000467626.1_5'UTR|CRLF2_ENST00000381566.1_Missense_Mutation_p.P122L	NM_022148.2	NP_071431.2	Q9HC73	CRLF2_HUMAN	cytokine receptor-like factor 2	122	Fibronectin type-III.					extracellular region|integral to membrane|plasma membrane	receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(10)|lung(9)	20		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				CACGTGCTTCGGGGAACTGGG	0.542			"Mis, T"	"P2RY8, IGH@"	"B-ALL, Downs associated ALL"								24	120					0	0	1	0	0	A	1321390	G	A	1321390	3	1	103	1	0	0	0	0	1	0	0	0	3910	1116	39	1	420	1	CRLF2	23	1321390	Missense_Mutation	SNP	G	TCGA-DU-7010-01A-11D-2024-08		1321390	153949170	96	20228											
CNKSR2	22866	broad.mit.edu	37	X	21627466	21627466	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chrX:21627466C>A	ENST00000425654.2	+	19	2813	c.2333C>A	c.(2332-2334)tCt>tAt	p.S778Y	CNKSR2_ENST00000543067.1_Missense_Mutation_p.S759Y|CNKSR2_ENST00000379510.3_Missense_Mutation_p.S808Y|CNKSR2_ENST00000279451.4_Missense_Mutation_p.S808Y	NM_001168647.1	NP_001162118.1	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras 2	808					regulation of signal transduction	cytoplasm|membrane	protein binding			breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						AGGCGGCAGTCTACCCTGCCA	0.547													27	66					4.59853e-10	5.10948e-10	1	1	0	A	21627466	C	A	21627466	3	1	103	1	0	0	0	0	1	0	0	0	3630	913	32	4	2501	4	CNKSR2	23	21627466	Missense_Mutation	SNP	C	TCGA-DU-7010-01A-11D-2024-08	20306076	21627466	133643094	97	20229											
PDK3	5165	broad.mit.edu	37	X	24545692	24545692	+	Splice_Site	SNP	A	A	T			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chrX:24545692A>T	ENST00000441463.2	+	8	752	c.752A>T	c.(751-753)aAc>aTc	p.N251I	PDK3_ENST00000379162.4_Splice_Site_p.N251I	NM_001142386.2	NP_001135858.1	Q15120	PDK3_HUMAN	pyruvate dehydrogenase kinase, isozyme 3	251	Histidine kinase.				glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	ATP binding|protein binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity			NS(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						TTATTTTAGAACTCAATGAGA	0.363													4	19					0	0	1	0	0	T	24545692	A	T	24545692	5	4	103	1	0	0	0	0	0	0	1	0	11724	57	2	5	782	5	PDK3	23	24545692	Splice_Site	SNP	A	TCGA-DU-7010-01A-11D-2024-08	2918226	24545692	130724868	98	20230											
FAM47B	170062	broad.mit.edu	37	X	34961870	34961870	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chrX:34961870C>T	ENST00000329357.5	+	1	958	c.922C>T	c.(922-924)Cgc>Tgc	p.R308C		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	308	Pro-rich.									breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						GTCCCATCTCCGCCCAGAGCC	0.632													29	72					0	0	1	0	0	T	34961870	C	T	34961870	3	4	103	1	0	0	0	0	1	0	0	0	5606	652	23	1	924	1	FAM47B	23	34961870	Missense_Mutation	SNP	C	TCGA-DU-7010-01A-11D-2024-08	10416178	34961870	120308690	99	20231											
XK	7504	broad.mit.edu	37	X	37553613	37553613	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chrX:37553613G>A	ENST00000378616.3	+	2	523	c.320G>A	c.(319-321)aGg>aAg	p.R107K	TM4SF2_ENST00000465127.1_Intron	NM_021083.2	NP_066569.1	P51811	XK_HUMAN	X-linked Kx blood group (McLeod syndrome)	107					amino acid transport	integral to membrane	protein binding|transporter activity			breast(1)|endometrium(4)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	15		all_lung(315;0.175)				ACCAAGAAGAGGCAAATGCCA	0.468													7	23					0	0	1	0	0	A	37553613	G	A	37553613	3	1	103	1	0	0	0	0	1	0	0	0	17491	1000	35	2	326	2	XK	23	37553613	Missense_Mutation	SNP	G	TCGA-DU-7010-01A-11D-2024-08	2591743	37553613	117716947	100	20232											
AKAP4	8852	broad.mit.edu	37	X	49958081	49958081	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chrX:49958081T>C	ENST00000376056.2	-	5	1406	c.1256A>G	c.(1255-1257)aAg>aGg	p.K419R	AKAP4_ENST00000376058.2_Intron|AKAP4_ENST00000358526.2_Missense_Mutation_p.K428R|AKAP4_ENST00000376064.3_Missense_Mutation_p.K419R|AKAP4_ENST00000481402.1_5'UTR			Q5JQC9	AKAP4_HUMAN	A kinase (PRKA) anchor protein 4	428					cell projection organization|single fertilization|sperm motility	cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum	protein kinase A binding			NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41	Ovarian(276;0.236)					GACCAAGCGCTTCAGCATGGC	0.478													36	101					0	0	1	0	0	C	49958081	T	C	49958081	3	2	103	1	0	0	0	0	1	0	0	0	450	1609	56	3	1289	3	AKAP4	23	49958081	Missense_Mutation	SNP	T	TCGA-DU-7010-01A-11D-2024-08	12404468	49958081	105312479	101	20233											
MED12	9968	broad.mit.edu	37	X	70345937	70345937	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chrX:70345937C>A	ENST00000333646.6	+	18	2673	c.2474C>A	c.(2473-2475)aCt>aAt	p.T825N	MED12_ENST00000374102.1_Missense_Mutation_p.T825N|MED12_ENST00000374080.3_Missense_Mutation_p.T825N	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN	mediator complex subunit 12	825					androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					GCCTTCCCCACTGCTGAAGAT	0.552			"M, S"		uterine leiomyoma		Opitz-Kaveggia Syndrome						19	94					9.7654e-05	0.000101271	1	1	0	A	70345937	C	A	70345937	3	1	103	1	0	0	0	0	1	0	0	0	9478	565	20	4	2544	4	MED12	23	70345937	Missense_Mutation	SNP	C	TCGA-DU-7010-01A-11D-2024-08	20387856	70345937	84924623	102	20234											
LONRF3	79836	broad.mit.edu	37	X	118148199	118148199	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chrX:118148199delG	ENST00000304778.7	+	9	2044	c.1881delG	c.(1879-1881)atgfs	p.M627fs	LONRF3_ENST00000422289.2_Frame_Shift_Del_p.M412fs|LONRF3_ENST00000472173.1_3'UTR|LONRF3_ENST00000371628.3_Frame_Shift_Del_p.M668fs	NM_024778.4	NP_079054.3	Q496Y0	LONF3_HUMAN	LON peptidase N-terminal domain and ring finger 3	668	Lon.				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						CTGAGCTCATGGGATTACATA	0.438													59	245	---	---	---	---						-	118148199	G	-	118148199	7	5	103	1	0	1	0	1	0	0	0	0	8941	1348	47	0	2042	0	LONRF3	23	118148199	Frame_Shift_Del	DEL	G	TCGA-DU-7010-01A-11D-2024-08	47802262	118148199	37122361	103	20235											
NKAP	79576	broad.mit.edu	37	X	119070601	119070601	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chrX:119070601C>A	ENST00000371410.3	-	3	678	c.512G>T	c.(511-513)aGc>aTc	p.S171I	NKAP_ENST00000477789.1_5'UTR	NM_024528.3	NP_078804.2	Q8N5F7	NKAP_HUMAN	NFKB activating protein	171					negative regulation of transcription, DNA-dependent|Notch signaling pathway|positive regulation of alpha-beta T cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	chromatin binding|protein binding			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)	20						TGAAGTAGTGCTTTTCTTTGG	0.294													15	48					3.52763e-06	3.74143e-06	1	1	0	A	119070601	C	A	119070601	3	1	103	1	0	0	0	0	1	0	0	0	10486	797	28	4	763	4	NKAP	23	119070601	Missense_Mutation	SNP	C	TCGA-DU-7010-01A-11D-2024-08	922402	119070601	36199959	104	20236											
DDX26B	203522	broad.mit.edu	37	X	134709030	134709030	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chrX:134709030T>A	ENST00000370752.4	+	13	1986	c.1652T>A	c.(1651-1653)gTt>gAt	p.V551D	DDX26B_ENST00000481908.1_3'UTR	NM_182540.4	NP_872346.3	Q5JSJ4	DX26B_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26B	551										large_intestine(1)|lung(8)	9	Acute lymphoblastic leukemia(192;6.56e-05)					AGTGTTCCAGTTGCACAAATG	0.413													24	103					0	0	1	0	0	A	134709030	T	A	134709030	3	1	103	1	0	0	0	0	1	0	0	0	4376	1725	60	5	1702	5	DDX26B	23	134709030	Missense_Mutation	SNP	T	TCGA-DU-7010-01A-11D-2024-08	15638429	134709030	20561530	105	20237											
GPR112	139378	broad.mit.edu	37	X	135430980	135430980	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chrX:135430980G>C	ENST00000394143.1	+	6	5406	c.5115G>C	c.(5113-5115)caG>caC	p.Q1705H	GPR112_ENST00000370652.1_Missense_Mutation_p.Q1705H|GPR112_ENST00000287534.4_Missense_Mutation_p.Q1642H|GPR112_ENST00000394141.1_Missense_Mutation_p.Q1500H|GPR112_ENST00000412101.1_Missense_Mutation_p.Q1500H	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1705					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					CAACTCAACAGTCATCACAAG	0.458													26	164					0	0	1	0	0	C	135430980	G	C	135430980	3	2	103	1	0	0	0	0	1	0	0	0	6669	1020	36	4	5125	4	GPR112	23	135430980	Missense_Mutation	SNP	G	TCGA-DU-7010-01A-11D-2024-08	721950	135430980	19839580	106	20238											
MAGEC2	51438	broad.mit.edu	37	X	141290652	141290652	+	Nonstop_Mutation	SNP	T	T	A			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chrX:141290652T>A	ENST00000247452.3	-	3	1469	c.1122A>T	c.(1120-1122)tgA>tgT	p.*374C		NM_016249.3	NP_057333.1	Q9UBF1	MAGC2_HUMAN	melanoma antigen family C, 2	0						cytoplasm|nucleus				NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47	Acute lymphoblastic leukemia(192;6.56e-05)					ATCCTAGACTTCACTCAGAAA	0.502										HNSCC(46;0.14)			20	73					0	0	1	0	0	A	141290652	T	A	141290652	4	1	103	1	0	0	0	0	0	0	0	0	9231	1796	62	5	3	5	MAGEC2	23	141290652	Nonstop_Mutation	SNP	T	TCGA-DU-7010-01A-11D-2024-08	5859672	141290652	13979908	107	20239											
MAGEA3	4102	broad.mit.edu	37	X	151935721	151935721	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chrX:151935721A>G	ENST00000393902.3	-	3	1013	c.446T>C	c.(445-447)gTg>gCg	p.V149A	MAGEA3_ENST00000370278.3_Missense_Mutation_p.V149A			P43357	MAGA3_HUMAN	melanoma antigen family A, 3	149	MAGE.									endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)	15	Acute lymphoblastic leukemia(192;6.56e-05)					GCTGAAGATCACAGGAAAGAA	0.517													83	107					0	0	1	0	0	G	151935721	A	G	151935721	3	3	103	1	0	0	0	0	1	0	0	0	9215	159	6	3	502	3	MAGEA3	23	151935721	Missense_Mutation	SNP	A	TCGA-DU-7010-01A-11D-2024-08	10645069	151935721	3334839	108	20240											
OPN1LW	5956	broad.mit.edu	37	X	153416330	153416330	+	Silent	SNP	C	C	T			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chrX:153416330C>T	ENST00000369951.4	+	2	375	c.315C>T	c.(313-315)atC>atT	p.I105I	OPN1LW_ENST00000463296.1_3'UTR	NM_020061.4	NP_064445.2	P04000	OPSR_HUMAN	opsin 1 (cone pigments), long-wave-sensitive	105					phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity			endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	15	all_cancers(53;1.83e-16)|all_epithelial(53;2.73e-10)|all_lung(58;6.39e-07)|Lung NSC(58;8.37e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					AGACCGTCATCGCCAGCACTA	0.597													25	98					0	0	1	0	0	T	153416330	C	T	153416330	2	4	103	1	0	0	0	0	0	0	0	1	10925	874	31	1		1	OPN1LW	23	153416330	Silent	SNP	C	TCGA-DU-7010-01A-11D-2024-08	1480609	153416330	1854230	109	20241											
G6PD	2539	broad.mit.edu	37	X	153760890	153760890	+	Silent	SNP	G	G	A			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chrX:153760890G>A	ENST00000393562.2	-	10	1652	c.1269C>T	c.(1267-1269)cgC>cgT	p.R423R	G6PD_ENST00000369620.2_Silent_p.R439R|G6PD_ENST00000393564.2_Silent_p.R393R	NM_000402.3	NP_000393.4	P11413	G6PD_HUMAN	glucose-6-phosphate dehydrogenase	393					cellular response to oxidative stress|cholesterol biosynthetic process|cytokine production|erythrocyte maturation|glucose 6-phosphate metabolic process|glutathione metabolic process|negative regulation of protein glutathionylation|pentose-phosphate shunt, oxidative branch|ribose phosphate biosynthetic process	centrosome|cytosol|internal side of plasma membrane|intracellular membrane-bounded organelle	glucose binding|glucose-6-phosphate dehydrogenase activity|NADP binding|protein homodimerization activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(3)|ovary(4)	18	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TGGGCTGCACGCGGATCACCA	0.612													24	66					0	0	1	0	0	A	153760890	G	A	153760890	2	1	103	1	0	0	0	0	0	0	0	1	6181	1074	38	1		1	G6PD	23	153760890	Silent	SNP	G	TCGA-DU-7010-01A-11D-2024-08	344560	153760890	1509670	110	20242											
WDR78	79819	broad.mit.edu	37	1	67370972	67370972	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-7011-01A-11D-2024-08	TCGA-DU-7011-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a998b8e9-3711-460c-8e4b-6597b6760a15	faf5593b-8173-4404-adef-379c03202b68	g.chr1:67370972T>C	ENST00000371026.3	-	2	312	c.257A>G	c.(256-258)cAa>cGa	p.Q86R	WDR78_ENST00000371023.3_Missense_Mutation_p.Q86R|WDR78_ENST00000431318.1_5'UTR|WDR78_ENST00000371022.3_Missense_Mutation_p.Q86R|WDR78_ENST00000488333.1_Missense_Mutation_p.Q14R	NM_024763.4	NP_079039.4	Q5VTH9	WDR78_HUMAN	WD repeat domain 78	86										NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3)	32						CATTCTGCTTTGATTTGCACC	0.353													6	111					0	0	1	0	0	C	67370972	T	C	67370972	3	2	104	1	0	0	0	0	1	0	0	0	17388	1812	63	3	2410	3	WDR78	1	67370972	Missense_Mutation	SNP	T	TCGA-DU-7011-01A-11D-2024-08		67370972	181879649	1	20243											
CLIP4	79745	broad.mit.edu	37	2	29355042	29355042	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-7011-01A-11D-2024-08	TCGA-DU-7011-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a998b8e9-3711-460c-8e4b-6597b6760a15	faf5593b-8173-4404-adef-379c03202b68	g.chr2:29355042A>G	ENST00000320081.5	+	4	553	c.298A>G	c.(298-300)Aat>Gat	p.N100D	CLIP4_ENST00000401605.1_Missense_Mutation_p.N100D|CLIP4_ENST00000404424.1_Missense_Mutation_p.N100D|CLIP4_ENST00000401617.2_5'UTR	NM_024692.4	NP_078968.3	Q8N3C7	CLIP4_HUMAN	CAP-GLY domain containing linker protein family, member 4	100										endometrium(4)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(1)	26	Acute lymphoblastic leukemia(172;0.155)					TTGCAATGTGAATGATAGAGA	0.378													8	105					0	0	1	0	0	G	29355042	A	G	29355042	3	3	104	1	0	0	0	0	1	0	0	0	3558	246	9	3	308	3	CLIP4	2	29355042	Missense_Mutation	SNP	A	TCGA-DU-7011-01A-11D-2024-08		29355042	213844331	2	20244											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-DU-7011-01A-11D-2024-08	TCGA-DU-7011-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a998b8e9-3711-460c-8e4b-6597b6760a15	faf5593b-8173-4404-adef-379c03202b68	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	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								18	54					0	0	1	0	0	T	209113112	C	T	209113112	3	4	104	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-DU-7011-01A-11D-2024-08	179758070	209113112	34086261	3	20245											
MAP2	4133	broad.mit.edu	37	2	210560053	210560053	+	Silent	SNP	T	T	C			TCGA-DU-7011-01A-11D-2024-08	TCGA-DU-7011-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a998b8e9-3711-460c-8e4b-6597b6760a15	faf5593b-8173-4404-adef-379c03202b68	g.chr2:210560053T>C	ENST00000360351.4	+	7	3665	c.3159T>C	c.(3157-3159)ttT>ttC	p.F1053F	MAP2_ENST00000447185.1_Silent_p.F1049F|MAP2_ENST00000361559.4_Intron|MAP2_ENST00000199940.6_Intron|MAP2_ENST00000392194.1_Intron	NM_002374.3	NP_002365.3	P11137	MAP2_HUMAN	microtubule-associated protein 2	1053					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	TTAGTGACTTTGGACAGATGG	0.468													52	85					0	0	1	0	0	C	210560053	T	C	210560053	2	2	104	1	0	0	0	0	0	0	0	1	9285	1809	63	3		3	MAP2	2	210560053	Silent	SNP	T	TCGA-DU-7011-01A-11D-2024-08	1446941	210560053	32639320	4	20246											
DCAF4L1	285429	broad.mit.edu	37	4	41984364	41984364	+	Silent	SNP	C	C	A			TCGA-DU-7011-01A-11D-2024-08	TCGA-DU-7011-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a998b8e9-3711-460c-8e4b-6597b6760a15	faf5593b-8173-4404-adef-379c03202b68	g.chr4:41984364C>A	ENST00000333141.5	+	1	652	c.555C>A	c.(553-555)gcC>gcA	p.A185A		NM_001029955.3	NP_001025126.2	Q3SXM0	DC4L1_HUMAN	DDB1 and CUL4 associated factor 4-like 1	185										breast(1)|endometrium(5)|kidney(6)|large_intestine(11)|lung(12)|prostate(1)|skin(1)	37						TCCCAGAGGCCTGGTCCTGTG	0.587													14	135					1.52009e-12	1.57639e-12	1	1	0	A	41984364	C	A	41984364	2	1	104	1	0	0	0	0	0	0	0	1	4295	668	24	4		4	DCAF4L1	4	41984364	Silent	SNP	C	TCGA-DU-7011-01A-11D-2024-08		41984364	149169912	5	20247											
UBR2	23304	broad.mit.edu	37	6	42631096	42631096	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-7011-01A-11D-2024-08	TCGA-DU-7011-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a998b8e9-3711-460c-8e4b-6597b6760a15	faf5593b-8173-4404-adef-379c03202b68	g.chr6:42631096T>C	ENST00000372899.1	+	32	3895	c.3637T>C	c.(3637-3639)Tgt>Cgt	p.C1213R	UBR2_ENST00000372883.3_3'UTR|UBR2_ENST00000372901.1_Missense_Mutation_p.C1213R	NM_015255.2	NP_056070.1	Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin 2	1213					cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade	nucleus|plasma membrane	leucine binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			TTGCCCCCTTTGTGAATGCTT	0.378													22	65					0	0	1	0	0	C	42631096	T	C	42631096	3	2	104	1	0	0	0	0	1	0	0	0	16963	1812	63	3	3909	3	UBR2	6	42631096	Missense_Mutation	SNP	T	TCGA-DU-7011-01A-11D-2024-08		42631096	128483971	6	20248											
PCLO	27445	broad.mit.edu	37	7	82584494	82584494	+	Silent	SNP	T	T	C			TCGA-DU-7011-01A-11D-2024-08	TCGA-DU-7011-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a998b8e9-3711-460c-8e4b-6597b6760a15	faf5593b-8173-4404-adef-379c03202b68	g.chr7:82584494T>C	ENST00000333891.9	-	5	6112	c.5775A>G	c.(5773-5775)acA>acG	p.T1925T	PCLO_ENST00000423517.2_Silent_p.T1925T	NM_033026.5	NP_149015.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein						cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TGTATTTGTGTGTTTTATGCA	0.358													18	23					0	0	1	0	0	C	82584494	T	C	82584494	2	2	104	1	0	0	0	0	0	0	0	1	11630	1683	59	3		3	PCLO	7	82584494	Silent	SNP	T	TCGA-DU-7011-01A-11D-2024-08		82584494	76554169	7	20249											
CPSF1	29894	broad.mit.edu	37	8	145619157	145619157	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7011-01A-11D-2024-08	TCGA-DU-7011-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a998b8e9-3711-460c-8e4b-6597b6760a15	faf5593b-8173-4404-adef-379c03202b68	g.chr8:145619157G>A	ENST00000349769.3	-	35	4050	c.3956C>T	c.(3955-3957)gCc>gTc	p.A1319V	CPSF1_ENST00000531727.1_5'UTR	NM_013291.2	NP_037423.2	Q10570	CPSF1_HUMAN	cleavage and polyadenylation specific factor 1, 160kDa	1319					mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	mRNA 3'-UTR binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38	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;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			CCCTTCAGTGGCCCCCCGGCA	0.632													3	28					0	0	1	0	0	A	145619157	G	A	145619157	3	1	104	1	0	0	0	0	1	0	0	0	3847	1203	42	2	391	2	CPSF1	8	145619157	Missense_Mutation	SNP	G	TCGA-DU-7011-01A-11D-2024-08		145619157	744865	8	20250											
OR5P2	120065	broad.mit.edu	37	11	7817817	7817817	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7011-01A-11D-2024-08	TCGA-DU-7011-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a998b8e9-3711-460c-8e4b-6597b6760a15	faf5593b-8173-4404-adef-379c03202b68	g.chr11:7817817G>A	ENST00000329434.2	-	1	703	c.673C>T	c.(673-675)Cgc>Tgc	p.R225C	RP11-35J10.5_ENST00000527565.1_lincRNA	NM_153444.1	NP_703145.1	Q8WZ92	OR5P2_HUMAN	olfactory receptor, family 5, subfamily P, member 2	225					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R225C(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	22				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TCAGTGGAGCGCATCTTCAGG	0.493													17	57					0	0	1	0	0	A	7817817	G	A	7817817	3	1	104	1	0	0	0	0	1	0	0	0	11225	1087	38	1	299	1	OR5P2	11	7817817	Missense_Mutation	SNP	G	TCGA-DU-7011-01A-11D-2024-08		7817817	127188699	9	20251											
LAMP1	3916	broad.mit.edu	37	13	113960856	113960856	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7011-01A-11D-2024-08	TCGA-DU-7011-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a998b8e9-3711-460c-8e4b-6597b6760a15	faf5593b-8173-4404-adef-379c03202b68	g.chr13:113960856G>A	ENST00000332556.4	+	2	312	c.118G>A	c.(118-120)Gcg>Acg	p.A40T	LAMP1_ENST00000397181.3_Missense_Mutation_p.A40T	NM_005561.3	NP_005552.3	P11279	LAMP1_HUMAN	lysosomal-associated membrane protein 1	40	First lumenal domain.			VKNGNGTA -> MARGGRVR (in Ref. 6; AAA59524).		endosome membrane|integral to plasma membrane|lysosomal membrane|membrane fraction				NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(2)|prostate(1)|skin(1)|stomach(2)	16	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.025)|GBM - Glioblastoma multiforme(44;0.206)|Epithelial(84;0.246)			CAACGGGACCGCGTGCATAAT	0.507													38	81					0	0	1	0	0	A	113960856	G	A	113960856	3	1	104	1	0	0	0	0	1	0	0	0	8656	1087	38	1	124	1	LAMP1	13	113960856	Missense_Mutation	SNP	G	TCGA-DU-7011-01A-11D-2024-08		113960856	1209022	10	20252											
CSPG4	1464	broad.mit.edu	37	15	75975277	75975277	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7011-01A-11D-2024-08	TCGA-DU-7011-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a998b8e9-3711-460c-8e4b-6597b6760a15	faf5593b-8173-4404-adef-379c03202b68	g.chr15:75975277C>T	ENST00000308508.5	-	6	4647	c.4555G>A	c.(4555-4557)Ggg>Agg	p.G1519R		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	1519	Gly/Ser-rich (glycosaminoglycan attachment domain).				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						ACTACCCGCCCGTTGCTGGGC	0.697													7	25					0	0	1	0	0	T	75975277	C	T	75975277	3	4	104	1	0	0	0	0	1	0	0	0	3985	652	23	1	2433	1	CSPG4	15	75975277	Missense_Mutation	SNP	C	TCGA-DU-7011-01A-11D-2024-08		75975277	26556115	11	20253											
IL27	246778	broad.mit.edu	37	16	28513350	28513350	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-7011-01A-11D-2024-08	TCGA-DU-7011-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a998b8e9-3711-460c-8e4b-6597b6760a15	faf5593b-8173-4404-adef-379c03202b68	g.chr16:28513350G>C	ENST00000356897.1	-	4	431	c.409C>G	c.(409-411)Ctg>Gtg	p.L137V		NM_145659.3	NP_663634.2	Q8NEV9	IL27A_HUMAN	interleukin 27	137					inflammatory response|innate immune response|positive regulation of interferon-gamma biosynthetic process|regulation of defense response to virus|regulation of T cell proliferation|regulation of T-helper 1 cell differentiation	extracellular space	cytokine activity|interleukin-27 receptor binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	10						ATGGCCCACAGCTGCATCCTC	0.662													6	64					0	0	1	0	0	C	28513350	G	C	28513350	3	2	104	1	0	0	0	0	1	0	0	0	7724	962	34	4	330	4	IL27	16	28513350	Missense_Mutation	SNP	G	TCGA-DU-7011-01A-11D-2024-08		28513350	61841403	12	20254											
TP53	7157	broad.mit.edu	37	17	7577094	7577094	+	Missense_Mutation	SNP	G	G	A	rs28934574		TCGA-DU-7011-01A-11D-2024-08	TCGA-DU-7011-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a998b8e9-3711-460c-8e4b-6597b6760a15	faf5593b-8173-4404-adef-379c03202b68	g.chr17:7577094G>A	ENST00000420246.2	-	8	976	c.844C>T	c.(844-846)Cgg>Tgg	p.R282W	TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.R282W|TP53_ENST00000269305.4_Missense_Mutation_p.R282W|TP53_ENST00000359597.4_Missense_Mutation_p.R282W|TP53_ENST00000445888.2_Missense_Mutation_p.R282W	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	282	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		DR -> EW (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934574).		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.R282W(401)|p.R282G(29)|p.0?(8)|p.R282fs*24(4)|p.R282R(3)|p.?(2)|p.D281fs*63(2)|p.D281_R282>EW(2)|p.A276_R283delACPGRDRR(1)|p.D281_R282insXX(1)|p.C275fs*20(1)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.D281_R282delDR(1)|p.G279fs*59(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.R282fs*63(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(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)		TCTGTGCGCCGGTCTCTCCCA	0.557		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)			34	19					0	0	1	0	0	A	7577094	G	A	7577094	3	1	104	1	0	0	0	0	1	0	0	0	16442	1115	39	1	442	1	TP53	17	7577094	Missense_Mutation	SNP	G	TCGA-DU-7011-01A-11D-2024-08		7577094	73618116	13	20255											
SERPINB11	89778	broad.mit.edu	37	18	61377583	61377583	+	RNA	SNP	G	G	A			TCGA-DU-7011-01A-11D-2024-08	TCGA-DU-7011-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a998b8e9-3711-460c-8e4b-6597b6760a15	faf5593b-8173-4404-adef-379c03202b68	g.chr18:61377583G>A	ENST00000544088.1	+	0	218				SERPINB11_ENST00000536691.1_RNA|SERPINB11_ENST00000538847.1_RNA|SERPINB11_ENST00000382749.5_RNA|SERPINB11_ENST00000489748.1_RNA	NM_080475.2	NP_536723.2	Q96P15	SPB11_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 11 (gene/pseudogene)						regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			breast(1)|cervix(1)|kidney(1)|lung(3)	6		Esophageal squamous(42;0.129)				AGACTGAAGAGCAATTGGAGA	0.438													6	36					0	0	1	0	0	A	61377583	G	A	61377583	1	1	104	0	1	0	0	0	0	0	0	0	14152	962	34	2		2	SERPINB11	18	61377583	RNA	SNP	G	TCGA-DU-7011-01A-11D-2024-08		61377583	16699665	14	20256											
EMR1	2015	broad.mit.edu	37	19	6926465	6926465	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-7011-01A-11D-2024-08	TCGA-DU-7011-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a998b8e9-3711-460c-8e4b-6597b6760a15	faf5593b-8173-4404-adef-379c03202b68	g.chr19:6926465T>C	ENST00000312053.4	+	16	2112	c.2075T>C	c.(2074-2076)tTg>tCg	p.L692S	EMR1_ENST00000381407.5_Missense_Mutation_p.L551S|EMR1_ENST00000450315.3_Missense_Mutation_p.L515S|EMR1_ENST00000250572.8_Missense_Mutation_p.L627S|EMR1_ENST00000381404.4_Missense_Mutation_p.L640S	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 1	692					cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					ATACTGTTCTTGATGGTCAGA	0.537													10	80					0	0	1	0	0	C	6926465	T	C	6926465	3	2	104	1	0	0	0	0	1	0	0	0	5132	1821	63	3	2137	3	EMR1	19	6926465	Missense_Mutation	SNP	T	TCGA-DU-7011-01A-11D-2024-08		6926465	52202518	15	20257											
CLTCL1	8218	broad.mit.edu	37	22	19197859	19197859	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-7011-01A-11D-2024-08	TCGA-DU-7011-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a998b8e9-3711-460c-8e4b-6597b6760a15	faf5593b-8173-4404-adef-379c03202b68	g.chr22:19197859C>A	ENST00000263200.10	-	20	3298	c.3226G>T	c.(3226-3228)Gat>Tat	p.D1076Y	CLTCL1_ENST00000353891.5_Missense_Mutation_p.D1076Y|CLTCL1_ENST00000427926.1_Missense_Mutation_p.D1076Y	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1	1076	Heavy chain arm.|Proximal segment.				anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network	protein binding|signal transducer activity|structural molecule activity			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					GCATTCATATCAAACTTGTGG	0.552			T	?	ALCL								7	72					5.18039e-06	5.18039e-06	1	1	0	A	19197859	C	A	19197859	3	1	104	1	0	0	0	0	1	0	0	0	3590	826	29	5	1748	5	CLTCL1	22	19197859	Missense_Mutation	SNP	C	TCGA-DU-7011-01A-11D-2024-08		19197859	32106707	16	20258											
CLCN4	1183	broad.mit.edu	37	X	10180553	10180553	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7011-01A-11D-2024-08	TCGA-DU-7011-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a998b8e9-3711-460c-8e4b-6597b6760a15	faf5593b-8173-4404-adef-379c03202b68	g.chrX:10180553C>T	ENST00000380833.4	+	10	1827	c.1436C>T	c.(1435-1437)gCg>gTg	p.A479V	CLCN4_ENST00000421085.2_Missense_Mutation_p.A385V|CLCN4_ENST00000380829.1_Missense_Mutation_p.A448V	NM_001256944.1|NM_001830.3	NP_001243873.1|NP_001821.2	P51793	CLCN4_HUMAN	chloride channel, voltage-sensitive 4	479						early endosome membrane|integral to membrane|late endosome membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						GGCGCGATAGCGGGCAGGATG	0.577													5	43					0	0	1	0	0	T	10180553	C	T	10180553	3	4	104	1	0	0	0	0	1	0	0	0	3488	768	27	1	1466	1	CLCN4	23	10180553	Missense_Mutation	SNP	C	TCGA-DU-7011-01A-11D-2024-08		10180553	145090007	17	20259											
ATRX	546	broad.mit.edu	37	X	76849194	76849194	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-7011-01A-11D-2024-08	TCGA-DU-7011-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a998b8e9-3711-460c-8e4b-6597b6760a15	faf5593b-8173-4404-adef-379c03202b68	g.chrX:76849194G>A	ENST00000373344.5	-	26	6296	c.6082C>T	c.(6082-6084)Cga>Tga	p.R2028*	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Nonsense_Mutation_p.R1990*	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	2028	Helicase C-terminal.				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)	TCTGCCATTCGAAGAATTTCA	0.338			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						14	43					0	0	1	0	0	A	76849194	G	A	76849194	4	1	104	1	0	0	0	0	0	1	0	0	1206	1066	37	1	1436	1	ATRX	23	76849194	Nonsense_Mutation	SNP	G	TCGA-DU-7011-01A-11D-2024-08	66668641	76849194	78421366	18	20260											
ATRX	546	broad.mit.edu	37	X	76855019	76855019	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DU-7011-01A-11D-2024-08	TCGA-DU-7011-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a998b8e9-3711-460c-8e4b-6597b6760a15	faf5593b-8173-4404-adef-379c03202b68	g.chrX:76855019delT	ENST00000373344.5	-	25	6031	c.5817delA	c.(5815-5817)aaafs	p.K1939fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.K1901fs	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1939	Poly-Lys.				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)	AGCTACTATCTTTTTTCCCCT	0.353			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						61	242	---	---	---	---						-	76855019	T	-	76855019	7	5	104	1	0	1	0	1	0	0	0	0	1206	1606	56	0	1705	0	ATRX	23	76855019	Frame_Shift_Del	DEL	T	TCGA-DU-7011-01A-11D-2024-08	5825	76855019	78415541	19	20261											
ATRX	546	broad.mit.edu	37	X	76939496	76939496	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-7011-01A-11D-2024-08	TCGA-DU-7011-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a998b8e9-3711-460c-8e4b-6597b6760a15	faf5593b-8173-4404-adef-379c03202b68	g.chrX:76939496G>A	ENST00000373344.5	-	9	1466	c.1252C>T	c.(1252-1254)Cga>Tga	p.R418*	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Nonsense_Mutation_p.R380*	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	418					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)	TCCATCGCTCGAAACTCGGAA	0.373			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						47	136					0	0	1	0	0	A	76939496	G	A	76939496	4	1	104	1	0	0	0	0	0	1	0	0	1206	1066	37	1	6334	1	ATRX	23	76939496	Nonsense_Mutation	SNP	G	TCGA-DU-7011-01A-11D-2024-08	84477	76939496	78331064	20	20262											
HSPG2	3339	broad.mit.edu	37	1	22201401	22201401	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr1:22201401G>A	ENST00000374695.3	-	26	3476	c.3397C>T	c.(3397-3399)Cgt>Tgt	p.R1133C		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	1133	Laminin EGF-like 5; second part.			R -> L (in Ref. 6; AAB21121).	angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	GACGGCCCACGGTACCCGGGT	0.697													4	8					0	0	1	0	0	A	22201401	G	A	22201401	3	1	105	1	0	0	0	0	1	0	0	0	7474	1116	39	1	10066	1	HSPG2	1	22201401	Missense_Mutation	SNP	G	TCGA-DU-7012-01A-11D-2024-08		22201401	227049220	1	20263											
TRIM63	84676	broad.mit.edu	37	1	26387823	26387823	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr1:26387823C>T	ENST00000374272.3	-	3	473	c.335G>A	c.(334-336)cGg>cAg	p.R112Q	TRIM63_ENST00000483052.1_5'UTR	NM_032588.3	NP_115977.2	Q969Q1	TRI63_HUMAN	tripartite motif containing 63, E3 ubiquitin protein ligase	112	Interaction with TTN.					cytoplasm|microtubule|nucleus	ligase activity|signal transducer activity|titin binding|zinc ion binding			kidney(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1)	5		Colorectal(325;3.46e-05)|Lung NSC(340;0.000154)|all_lung(284;0.00021)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;9.15e-26)|Colorectal(126;3.16e-08)|COAD - Colon adenocarcinoma(152;1.72e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000767)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)		CTGCAGCGGCCGACTGCAGTG	0.592													7	28					0	0	1	0	0	T	26387823	C	T	26387823	3	4	105	1	0	0	0	0	1	0	0	0	16599	652	23	1	754	1	TRIM63	1	26387823	Missense_Mutation	SNP	C	TCGA-DU-7012-01A-11D-2024-08	4186422	26387823	222862798	2	20264											
GPATCH3	63906	broad.mit.edu	37	1	27224101	27224101	+	Silent	SNP	C	C	T			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr1:27224101C>T	ENST00000361720.5	-	2	590	c.567G>A	c.(565-567)ctG>ctA	p.L189L		NM_022078.2	NP_071361.2	Q96I76	GPTC3_HUMAN	G patch domain containing 3	189						intracellular	nucleic acid binding			endometrium(2)|large_intestine(1)|lung(11)|skin(1)	15		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.97e-51)|OV - Ovarian serous cystadenocarcinoma(117;9.55e-30)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|STAD - Stomach adenocarcinoma(196;0.000595)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|READ - Rectum adenocarcinoma(331;0.0419)		CTCTGGGCATCAGCACTGGTG	0.602													17	50					0	0	1	0	0	T	27224101	C	T	27224101	2	4	105	1	0	0	0	0	0	0	0	1	6632	813	29	2		2	GPATCH3	1	27224101	Silent	SNP	C	TCGA-DU-7012-01A-11D-2024-08	836278	27224101	222026520	3	20265											
VGLL4	9686	broad.mit.edu	37	3	11600065	11600065	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr3:11600065C>T	ENST00000273038.3	-	6	1203	c.838G>A	c.(838-840)Gtc>Atc	p.V280I	VGLL4_ENST00000430365.2_Missense_Mutation_p.V286I|VGLL4_ENST00000404339.1_Missense_Mutation_p.V285I|VGLL4_ENST00000413604.1_Missense_Mutation_p.V221I|VGLL4_ENST00000451674.2_Missense_Mutation_p.V200I|VGLL4_ENST00000424529.2_Missense_Mutation_p.V196I	NM_001284391.1|NM_014667.2	NP_001271320.1|NP_055482.2	Q14135	VGLL4_HUMAN	vestigial like 4 (Drosophila)	280					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|endometrium(1)|large_intestine(1)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10				LUSC - Lung squamous cell carcinoma(1;0.089)|Lung(1;0.111)		CTGTGGCTGACCATGTGGGCA	0.622													16	51					0	0	1	0	0	T	11600065	C	T	11600065	3	4	105	1	0	0	0	0	1	0	0	0	17221	507	18	2	38	2	VGLL4	3	11600065	Missense_Mutation	SNP	C	TCGA-DU-7012-01A-11D-2024-08		11600065	186422365	4	20266											
PRSS50	29122	broad.mit.edu	37	3	46755847	46755847	+	Silent	SNP	G	G	A			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr3:46755847G>A	ENST00000460241.1	-	9	2285	c.615C>T	c.(613-615)aaC>aaT	p.N205N	PRSS50_ENST00000315170.7_Silent_p.N205N			Q9UI38	TSP50_HUMAN	protease, serine, 50	205	Peptidase S1.				proteolysis	endoplasmic reticulum	serine-type endopeptidase activity|threonine-type endopeptidase activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	11						GGCCGATGTCGTTGGCCTGGC	0.607													9	10					0	0	1	0	0	A	46755847	G	A	46755847	2	1	105	1	0	0	0	0	0	0	0	1	12680	1136	40	1		1	PRSS50	3	46755847	Silent	SNP	G	TCGA-DU-7012-01A-11D-2024-08	35155782	46755847	151266583	5	20267											
NIT2	56954	broad.mit.edu	37	3	100057936	100057936	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr3:100057936C>T	ENST00000394140.4	+	2	104	c.13C>T	c.(13-15)Cgc>Tgc	p.R5C		NM_020202.4	NP_064587.1	Q9NQR4	NIT2_HUMAN	nitrilase family, member 2		CN hydrolase.				nitrogen compound metabolic process		omega-amidase activity			breast(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(1)	17						CTCAGCTTTCCGCTTGGCCCT	0.473													33	99					0	0	1	0	0	T	100057936	C	T	100057936	3	4	105	1	0	0	0	0	1	0	0	0	10481	652	23	1	19	1	NIT2	3	100057936	Missense_Mutation	SNP	C	TCGA-DU-7012-01A-11D-2024-08	53302089	100057936	97964494	6	20268											
JAKMIP1	152789	broad.mit.edu	37	4	6043922	6043922	+	Silent	SNP	G	G	A			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr4:6043922G>A	ENST00000409021.3	-	17	2510	c.2061C>T	c.(2059-2061)gcC>gcT	p.A687A	JAKMIP1_ENST00000409371.3_Silent_p.A502A	NM_001099433.1	NP_001092903.1	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein 1	458					protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding			NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TCTGGGTCAGGGCGGCCTCGG	0.547													10	45					0	0	1	0	0	A	6043922	G	A	6043922	2	1	105	1	0	0	0	0	0	0	0	1	7984	1219	43	2		2	JAKMIP1	4	6043922	Silent	SNP	G	TCGA-DU-7012-01A-11D-2024-08		6043922	185110354	7	20269											
ZCCHC4	29063	broad.mit.edu	37	4	25351255	25351255	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr4:25351255C>T	ENST00000302874.4	+	7	925	c.901C>T	c.(901-903)Caa>Taa	p.Q301*	ZCCHC4_ENST00000505451.1_3'UTR	NM_024936.2	NP_079212.2	Q9H5U6	ZCHC4_HUMAN	zinc finger, CCHC domain containing 4	301							methyltransferase activity|nucleic acid binding|zinc ion binding			endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)	9		Breast(46;0.0503)				GAAAGAAGGTCAAAGCCAAGG	0.378													28	68					0	0	1	0	0	T	25351255	C	T	25351255	4	4	105	1	0	0	0	0	0	1	0	0	17648	827	29	2	927	2	ZCCHC4	4	25351255	Nonsense_Mutation	SNP	C	TCGA-DU-7012-01A-11D-2024-08	19307333	25351255	165803021	8	20270											
AFM	173	broad.mit.edu	37	4	74352724	74352724	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr4:74352724G>A	ENST00000226355.3	+	5	616	c.523G>A	c.(523-525)Gcc>Acc	p.A175T		NM_001133.2	NP_001124.1	P43652	AFAM_HUMAN	afamin	175	Albumin 1.				vitamin transport		vitamin E binding			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	Breast(15;0.00102)		Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			ATTTGTCTTCGCCCCTACACT	0.398													16	58					0	0	1	0	0	A	74352724	G	A	74352724	3	1	105	1	0	0	0	0	1	0	0	0	360	1087	38	1	541	1	AFM	4	74352724	Missense_Mutation	SNP	G	TCGA-DU-7012-01A-11D-2024-08	49001469	74352724	116801552	9	20271											
PCDHGA5	56110	broad.mit.edu	37	5	140744613	140744613	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr5:140744613C>T	ENST00000518069.1	+	1	716	c.716C>T	c.(715-717)gCg>gTg	p.A239V	PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1														endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AACGACAATGCGCCCCTGTTC	0.587													24	75					0	0	1	0	0	T	140744613	C	T	140744613	3	4	105	1	0	0	0	0	1	0	0	0	11604	768	27	1	718	1	PCDHGA5	5	140744613	Missense_Mutation	SNP	C	TCGA-DU-7012-01A-11D-2024-08		140744613	40170647	10	20272											
FAT2	2196	broad.mit.edu	37	5	150921911	150921911	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr5:150921911G>A	ENST00000261800.5	-	9	8789	c.8777C>T	c.(8776-8778)gCg>gTg	p.A2926V		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	2926	Cadherin 26.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTTTAGAGTCGCCACCAGTTC	0.507													38	119					0	0	1	0	0	A	150921911	G	A	150921911	3	1	105	1	0	0	0	0	1	0	0	0	5723	1087	38	1	4332	1	FAT2	5	150921911	Missense_Mutation	SNP	G	TCGA-DU-7012-01A-11D-2024-08	10177298	150921911	29993349	11	20273											
TMEM217	221468	broad.mit.edu	37	6	37186593	37186593	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr6:37186593A>G	ENST00000336655.2	-	2	253	c.214T>C	c.(214-216)Tct>Cct	p.S72P	TMEM217_ENST00000497775.1_Intron|TMEM217_ENST00000356757.2_Missense_Mutation_p.S72P	NM_145316.3	NP_660359.2	Q8N7C4	TM217_HUMAN	transmembrane protein 217	72						integral to membrane				endometrium(2)|kidney(1)|large_intestine(5)|lung(1)	9						GTGATGAAAGACAGGAAGAGG	0.438													5	141					0	0	1	0	0	G	37186593	A	G	37186593	3	3	105	1	0	0	0	0	1	0	0	0	16200	275	10	3	487	3	TMEM217	6	37186593	Missense_Mutation	SNP	A	TCGA-DU-7012-01A-11D-2024-08		37186593	133928474	12	20274											
DPPA5	340168	broad.mit.edu	37	6	74063752	74063752	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr6:74063752G>A	ENST00000370370.3	-	2	185	c.116C>T	c.(115-117)cCg>cTg	p.P39L		NM_001025290.2	NP_001020461.1	A6NC42	DPPA5_HUMAN	developmental pluripotency associated 5	39	KH; atypical.				multicellular organismal development	cytoplasm	RNA binding			NS(1)|endometrium(1)|lung(5)	7						AGATCCGTCCGGGCCTGTTGG	0.612													26	58					0	0	1	0	0	A	74063752	G	A	74063752	3	1	105	1	0	0	0	0	1	0	0	0	4763	1116	39	1	242	1	DPPA5	6	74063752	Missense_Mutation	SNP	G	TCGA-DU-7012-01A-11D-2024-08	36877159	74063752	97051315	13	20275											
TMEM184A	202915	broad.mit.edu	37	7	1586662	1586663	+	In_Frame_Ins	INS	-	-	GCC	rs3837151	by1000genomes	TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr7:1586662_1586663insGCC	ENST00000297477.5	-	9	1483_1484	c.1167_1168insGGC	c.(1165-1170)cccagc>cccGGCagc	p.389_390PS>PGS		NM_001097620.1	NP_001091089.1	Q6ZMB5	T184A_HUMAN	transmembrane protein 184A	389						integral to membrane				endometrium(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	12		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.88e-15)		GAGCCGCCGCTGGGGTGGGTGC	0.703													7	55	---	---	---	---						GCC	1586663	-	GCC	1586662	7	5	105	1	0	1	1	0	0	0	0	0	16164	1580	55	0	77	0	TMEM184A	7	1586662	In_Frame_Ins	INS	-	TCGA-DU-7012-01A-11D-2024-08		1586662	157552001	14	20276											
MACC1	346389	broad.mit.edu	37	7	20197969	20197969	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr7:20197969C>A	ENST00000400331.5	-	5	2323	c.2015G>T	c.(2014-2016)gGt>gTt	p.G672V	MACC1_ENST00000332878.4_Missense_Mutation_p.G672V|MACC1_ENST00000589011.1_Missense_Mutation_p.G672V	NM_182762.3	NP_877439.3	Q6ZN28	MACC1_HUMAN	metastasis associated in colon cancer 1	672					positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	growth factor activity			endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1)	39						ATGTGAGTAACCCAGGACATC	0.338													20	40					7.45023e-12	8.1353e-12	1	1	0	A	20197969	C	A	20197969	3	1	105	1	0	0	0	0	1	0	0	0	9189	507	18	5	555	5	MACC1	7	20197969	Missense_Mutation	SNP	C	TCGA-DU-7012-01A-11D-2024-08	18611307	20197969	138940694	15	20277											
EGFR	1956	broad.mit.edu	37	7	55221723	55221723	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr7:55221723A>G	ENST00000275493.2	+	7	944	c.767A>G	c.(766-768)gAc>gGc	p.D256G	EGFR_ENST00000420316.2_Missense_Mutation_p.D256G|EGFR_ENST00000454757.2_Missense_Mutation_p.D203G|EGFR_ENST00000344576.2_Missense_Mutation_p.D256G|EGFR_ENST00000455089.1_Missense_Mutation_p.D211G|EGFR_ENST00000442591.1_Missense_Mutation_p.D256G|EGFR_ENST00000342916.3_Missense_Mutation_p.D256G	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	256					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.D256A(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	AAATTCCGAGACGAAGCCACG	0.587		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			42	64					0	0	1	0	0	G	55221723	A	G	55221723	3	3	105	1	0	0	0	0	1	0	0	0	4993	275	10	3	793	3	EGFR	7	55221723	Missense_Mutation	SNP	A	TCGA-DU-7012-01A-11D-2024-08	35023754	55221723	103916940	16	20278											
WBSCR28	135886	broad.mit.edu	37	7	73280003	73280003	+	Silent	SNP	C	C	T			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr7:73280003C>T	ENST00000320531.2	+	3	634	c.598C>T	c.(598-600)Ctg>Ttg	p.L200L		NM_182504.3	NP_872310.2	Q6UE05	WBS28_HUMAN	Williams-Beuren syndrome chromosome region 28	200						integral to membrane				breast(2)|kidney(2)|lung(6)|skin(1)	11		Lung NSC(55;0.159)				CTCCTGGCACCTGGCCTATCT	0.612													58	244					0	0	1	0	0	T	73280003	C	T	73280003	2	4	105	1	0	0	0	0	0	0	0	1	17327	680	24	2		2	WBSCR28	7	73280003	Silent	SNP	C	TCGA-DU-7012-01A-11D-2024-08	18058280	73280003	85858660	17	20279											
ABCB4	5244	broad.mit.edu	37	7	87104712	87104712	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr7:87104712C>G	ENST00000265723.4	-	2	181	c.70G>C	c.(70-72)Ggc>Cgc	p.G24R	ABCB4_ENST00000359206.3_Missense_Mutation_p.G24R|ABCB4_ENST00000453593.1_Missense_Mutation_p.G24R|ABCB4_ENST00000545634.1_Missense_Mutation_p.G24R|ABCB4_ENST00000358400.3_Missense_Mutation_p.G24R	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	24					cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity			breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)					CTGCTGATGCCCAGTTCAAAG	0.547													13	57					0	0	1	0	0	G	87104712	C	G	87104712	3	3	105	1	0	0	0	0	1	0	0	0	43	623	22	5	3898	5	ABCB4	7	87104712	Missense_Mutation	SNP	C	TCGA-DU-7012-01A-11D-2024-08	13824709	87104712	72033951	18	20280											
HEPACAM2	253012	broad.mit.edu	37	7	92838183	92838183	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr7:92838183G>T	ENST00000394468.2	-	4	799	c.722C>A	c.(721-723)cCt>cAt	p.P241H	HEPACAM2_ENST00000440868.1_Missense_Mutation_p.P229H|HEPACAM2_ENST00000341723.4_Missense_Mutation_p.P229H|HEPACAM2_ENST00000453812.2_Missense_Mutation_p.P264H	NM_001039372.1	NP_001034461.1	A8MVW5	HECA2_HUMAN	HEPACAM family member 2	241	Ig-like C2-type 2.					integral to membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(4)|skin(1)	28						AAGTCCATAAGGTCCATCTGC	0.358													16	66					2.32078e-09	2.47724e-09	1	1	0	T	92838183	G	T	92838183	3	4	105	1	0	0	0	0	1	0	0	0	7094	1000	35	4	694	4	HEPACAM2	7	92838183	Missense_Mutation	SNP	G	TCGA-DU-7012-01A-11D-2024-08	5733471	92838183	66300480	19	20281											
UFSP1	402682	broad.mit.edu	37	7	100486857	100486857	+	Silent	SNP	C	C	T			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr7:100486857C>T	ENST00000388761.2	-	1	482	c.36G>A	c.(34-36)cgG>cgA	p.R12R		NM_001015072.3	NP_001015072.2	Q6NVU6	UFSP1_HUMAN	UFM1-specific peptidase 1 (non-functional)	12										lung(1)|stomach(1)	2	Lung NSC(181;0.041)|all_lung(186;0.0581)					CGATCCAGTCCCGGGAGCCCC	0.751													10	40					0	0	1	0	0	T	100486857	C	T	100486857	2	4	105	1	0	0	0	0	0	0	0	1	16997	610	22	2		2	UFSP1	7	100486857	Silent	SNP	C	TCGA-DU-7012-01A-11D-2024-08	7648674	100486857	58651806	20	20282											
MUC17	140453	broad.mit.edu	37	7	100683975	100683975	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr7:100683975C>T	ENST00000306151.4	+	3	9342	c.9278C>T	c.(9277-9279)aCc>aTc	p.T3093I		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3093	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GCTGAAGGTACCAGCATGCCA	0.493													119	449					0	0	1	0	0	T	100683975	C	T	100683975	3	4	105	1	0	0	0	0	1	0	0	0	10022	507	18	2	9288	2	MUC17	7	100683975	Missense_Mutation	SNP	C	TCGA-DU-7012-01A-11D-2024-08	197118	100683975	58454688	21	20283											
CFTR	1080	broad.mit.edu	37	7	117267621	117267621	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr7:117267621G>A	ENST00000003084.6	+	22	3646	c.3514G>A	c.(3514-3516)Gaa>Aaa	p.E1172K	AC000111.6_ENST00000456270.1_RNA|CFTR_ENST00000454343.1_Missense_Mutation_p.E1111K	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	1172					respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	CATGCCAACAGAAGGTAAACC	0.368									Cystic Fibrosis				9	48					0	0	1	0	0	A	117267621	G	A	117267621	3	1	105	1	0	0	0	0	1	0	0	0	3316	943	33	2	3600	2	CFTR	7	117267621	Missense_Mutation	SNP	G	TCGA-DU-7012-01A-11D-2024-08	16583646	117267621	41871042	22	20284											
MGAM	8972	broad.mit.edu	37	7	141708343	141708343	+	Silent	SNP	G	G	A			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr7:141708343G>A	ENST00000475668.2	+	3	219	c.165G>A	c.(163-165)ggG>ggA	p.G55G	MGAM_ENST00000549489.2_Silent_p.G55G			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	55	Ser/Thr-rich.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CAGATCCTGGGACAACTGGTA	0.473													4	26					0	0	1	0	0	A	141708343	G	A	141708343	2	1	105	1	0	0	0	0	0	0	0	1	9591	1161	41	2		2	MGAM	7	141708343	Silent	SNP	G	TCGA-DU-7012-01A-11D-2024-08	24440722	141708343	17430320	23	20285											
FUT10	84750	broad.mit.edu	37	8	33318925	33318925	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr8:33318925C>T	ENST00000327671.5	-	2	677	c.46G>A	c.(46-48)Gtc>Atc	p.V16I	FUT10_ENST00000524021.1_Intron|FUT10_ENST00000518672.1_Intron|FUT10_ENST00000335589.3_5'UTR	NM_032664.3	NP_116053.3	Q6P4F1	FUT10_HUMAN	fucosyltransferase 10 (alpha (1,3) fucosyltransferase)	16					embryo development|fertilization|hemopoiesis|L-fucose catabolic process|nervous system development|protein folding|protein glycosylation|protein targeting|wound healing	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity	p.V16F(1)		cervix(1)|endometrium(1)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	29				KIRC - Kidney renal clear cell carcinoma(67;0.129)|Kidney(114;0.154)		GTGGCTGTGACGCACAGGCAA	0.552													25	54					0	0	1	0	0	T	33318925	C	T	33318925	3	4	105	1	0	0	0	0	1	0	0	0	6137	536	19	1	1409	1	FUT10	8	33318925	Missense_Mutation	SNP	C	TCGA-DU-7012-01A-11D-2024-08		33318925	113045097	24	20286											
CHMP4C	92421	broad.mit.edu	37	8	82667660	82667660	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr8:82667660G>A	ENST00000297265.4	+	3	617	c.424G>A	c.(424-426)Gcc>Acc	p.A142T		NM_152284.3	NP_689497.1	Q96CF2	CHM4C_HUMAN	charged multivesicular body protein 4C	142	Intramolecular interaction with C- terminus (By similarity).				cellular membrane organization|endosome transport|protein transport	cytosol|late endosome membrane	protein binding			NS(1)|breast(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(2)|skin(1)	10						ACAGGATATCGCCCAAGAAAT	0.378													18	68					0	0	1	0	0	A	82667660	G	A	82667660	3	1	105	1	0	0	0	0	1	0	0	0	3380	1087	38	1	434	1	CHMP4C	8	82667660	Missense_Mutation	SNP	G	TCGA-DU-7012-01A-11D-2024-08	49348735	82667660	63696362	25	20287											
DMRT2	10655	broad.mit.edu	37	9	1056823	1056823	+	Silent	SNP	C	C	T			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr9:1056823C>T	ENST00000382251.3	+	5	1565	c.1236C>T	c.(1234-1236)acC>acT	p.T412T	DMRT2_ENST00000382255.3_3'UTR|DMRT2_ENST00000259622.6_3'UTR|DMRT2_ENST00000358146.2_Silent_p.T412T|DMRT2_ENST00000302441.6_Silent_p.T412T			Q9Y5R5	DMRT2_HUMAN	doublesex and mab-3 related transcription factor 2	412					male gonad development|sex determination	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|lung(1)|prostate(2)	4		all_lung(10;1.49e-09)|Lung NSC(10;1.86e-09)		Lung(218;0.0195)|GBM - Glioblastoma multiforme(50;0.0388)		AGATCCAGACCACGAGAAGTG	0.577													49	49					0	0	1	0	0	T	1056823	C	T	1056823	2	4	105	1	0	0	0	0	0	0	0	1	4614	581	21	2		2	DMRT2	9	1056823	Silent	SNP	C	TCGA-DU-7012-01A-11D-2024-08		1056823	140156608	26	20288											
SLC27A4	10999	broad.mit.edu	37	9	131118036	131118036	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr9:131118036C>T	ENST00000300456.4	+	12	1852	c.1735C>T	c.(1735-1737)Ccc>Tcc	p.P579S	SLC27A4_ENST00000372870.1_Missense_Mutation_p.P173S	NM_005094.3	NP_005085.2	Q6P1M0	S27A4_HUMAN	solute carrier family 27 (fatty acid transporter), member 4						long-chain fatty acid transport|transmembrane transport	integral to membrane	fatty acid transporter activity|nucleotide binding|protein binding			autonomic_ganglia(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(2)	13						GTATGCGCGCCCCATCTTCCT	0.637													14	70					0	0	1	0	0	T	131118036	C	T	131118036	3	4	105	1	0	0	0	0	1	0	0	0	14583	623	22	2	1777	2	SLC27A4	9	131118036	Missense_Mutation	SNP	C	TCGA-DU-7012-01A-11D-2024-08	130061213	131118036	10095395	27	20289											
MRPL41	64975	broad.mit.edu	37	9	140446796	140446796	+	Frame_Shift_Del	DEL	C	C	-	rs11555676		TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr9:140446796delC	ENST00000371443.5	+	2	1051	c.263delC	c.(262-264)gccfs	p.A89fs		NM_032477.2	NP_115866.1	Q8IXM3	RM41_HUMAN	mitochondrial ribosomal protein L41	89					apoptosis|cell cycle|translation	mitochondrial large ribosomal subunit	structural constituent of ribosome			breast(1)|lung(1)	2	all_cancers(76;0.106)			OV - Ovarian serous cystadenocarcinoma(145;0.000415)|Epithelial(140;0.00106)		CCCCTGACGGCCGCGCAGCTC	0.627													10	44	---	---	---	---						-	140446796	C	-	140446796	7	5	105	1	0	1	0	1	0	0	0	0	9854	739	26	0	265	0	MRPL41	9	140446796	Frame_Shift_Del	DEL	C	TCGA-DU-7012-01A-11D-2024-08	9328760	140446796	766635	28	20290											
PTEN	5728	broad.mit.edu	37	10	89720813	89720813	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr10:89720813A>G	ENST00000371953.3	+	8	2321	c.964A>G	c.(964-966)Aaa>Gaa	p.K322E	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	322	C2 tensin-type.				activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.T321fs*3(7)|p.R55fs*1(5)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.T319_K332del(1)|p.T321fs*22(1)|p.G165_*404del(1)|p.N323fs*21(1)|p.L316fs*1(1)|p.W274_F341del(1)|p.V317_K322del(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TACTTTAACAAAAAATGATCT	0.323		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			21	35					0	0	1	0	0	G	89720813	A	G	89720813	3	3	105	1	0	0	0	0	1	0	0	0	12787	15	1	3	994	3	PTEN	10	89720813	Missense_Mutation	SNP	A	TCGA-DU-7012-01A-11D-2024-08		89720813	45813934	29	20291											
KRTAP5-3	387266	broad.mit.edu	37	11	1629398	1629398	+	Missense_Mutation	SNP	C	C	G	rs7125831		TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr11:1629398C>G	ENST00000399685.1	-	1	295	c.218G>C	c.(217-219)tGc>tCc	p.C73S		NM_001012708.2	NP_001012726.1	Q6L8H2	KRA53_HUMAN	keratin associated protein 5-3	73	11 X 4 AA repeats of C-C-X-P.		C -> S (in dbSNP:rs7125831).			keratin filament				endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	8		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000618)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)		GCCCCCCTTGCAGCCCCCACA	0.677													7	176					0	0	1	0	0	G	1629398	C	G	1629398	3	3	105	1	0	0	0	0	1	0	0	0	8602	710	25	5	502	5	KRTAP5-3	11	1629398	Missense_Mutation	SNP	C	TCGA-DU-7012-01A-11D-2024-08		1629398	133377118	30	20292											
OR51L1	119682	broad.mit.edu	37	11	5020872	5020872	+	Silent	SNP	T	T	C			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr11:5020872T>C	ENST00000321543.1	+	1	660	c.660T>C	c.(658-660)taT>taC	p.Y220Y		NM_001004755.1	NP_001004755.1	Q8NGJ5	O51L1_HUMAN	olfactory receptor, family 51, subfamily L, member 1	220					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(19)|skin(2)|stomach(1)	31		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		TTCTTTCTTATGTTCTGATTC	0.403													16	44					0	0	1	0	0	C	5020872	T	C	5020872	2	2	105	1	0	0	0	0	0	0	0	1	11150	1471	51	3		3	OR51L1	11	5020872	Silent	SNP	T	TCGA-DU-7012-01A-11D-2024-08	3391474	5020872	129985644	31	20293											
OR5M3	219482	broad.mit.edu	37	11	56237331	56237331	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr11:56237331A>T	ENST00000312240.2	-	1	683	c.643T>A	c.(643-645)Tct>Act	p.S215T		NM_001004742.2	NP_001004742.2	Q8NGP4	OR5M3_HUMAN	olfactory receptor, family 5, subfamily M, member 3	215					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	37	Esophageal squamous(21;0.00448)					AATAAGTAAGAGATGATAATT	0.428													31	91					0	0	1	0	0	T	56237331	A	T	56237331	3	4	105	1	0	0	0	0	1	0	0	0	11222	304	11	5	282	5	OR5M3	11	56237331	Missense_Mutation	SNP	A	TCGA-DU-7012-01A-11D-2024-08	51216459	56237331	78769185	32	20294											
MS4A7	58475	broad.mit.edu	37	11	60152680	60152680	+	Silent	SNP	T	T	C			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr11:60152680T>C	ENST00000300184.3	+	3	463	c.267T>C	c.(265-267)ttT>ttC	p.F89F	MS4A14_ENST00000531787.1_Intron|MS4A7_ENST00000358246.1_Intron|MS4A7_ENST00000534016.1_Intron|MS4A7_ENST00000530234.2_Silent_p.F89F	NM_021201.4|NM_206939.1	NP_067024.1|NP_996822.1	Q9GZW8	MS4A7_HUMAN	membrane-spanning 4-domains, subfamily A, member 7	89						integral to membrane	receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(8)|ovary(1)|skin(1)	20						GGTACCCATTTTTAGGAGCTC	0.483													45	115					0	0	1	0	0	C	60152680	T	C	60152680	2	2	105	1	0	0	0	0	0	0	0	1	9915	1838	64	3		3	MS4A7	11	60152680	Silent	SNP	T	TCGA-DU-7012-01A-11D-2024-08	3915349	60152680	74853836	33	20295											
TSGA10IP	254187	broad.mit.edu	37	11	65714852	65714852	+	RNA	SNP	G	G	A			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr11:65714852G>A	ENST00000608857.1	+	0	556				TSGA10IP_ENST00000532620.1_RNA	NM_152762.2	NP_689975.2	Q3SY00	T10IP_HUMAN	testis specific, 10 interacting protein											endometrium(2)|kidney(3)|lung(9)	14						CATCCCTACTGGCAAAGGGGA	0.637													6	18					0	0	1	0	0	A	65714852	G	A	65714852	1	1	105	0	1	0	0	0	0	0	0	0	16679	1348	47	2		2	TSGA10IP	11	65714852	RNA	SNP	G	TCGA-DU-7012-01A-11D-2024-08	5562172	65714852	69291664	34	20296											
PGR	5241	broad.mit.edu	37	11	100998773	100998773	+	Silent	SNP	C	C	A			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr11:100998773C>A	ENST00000325455.5	-	1	2482	c.1029G>T	c.(1027-1029)cgG>cgT	p.R343R	PGR_ENST00000263463.5_Silent_p.R343R|PGR_ENST00000534013.1_Intron	NM_000926.4|NM_001202474.1|NM_001271162.1	NP_000917.3|NP_001189403.1|NP_001258091.1	P06401	PRGR_HUMAN	progesterone receptor	343	Modulating, Pro-Rich.				cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)	AGGGTGAACTCCGCGGCGGGG	0.687													16	41					6.94344e-10	7.49576e-10	1	1	0	A	100998773	C	A	100998773	2	1	105	1	0	0	0	0	0	0	0	1	11853	842	30	5		5	PGR	11	100998773	Silent	SNP	C	TCGA-DU-7012-01A-11D-2024-08	35283921	100998773	34007743	35	20297											
DDI1	414301	broad.mit.edu	37	11	103907873	103907873	+	Missense_Mutation	SNP	G	G	A	rs138983347		TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr11:103907873G>A	ENST00000302259.3	+	1	566	c.323G>A	c.(322-324)cGt>cAt	p.R108H	PDGFD_ENST00000302251.5_Intron|PDGFD_ENST00000393158.2_Intron	NM_001001711.2	NP_001001711.1	Q8WTU0	DDI1_HUMAN	DNA-damage inducible 1 homolog 1 (S. cerevisiae)	108					proteolysis		aspartic-type endopeptidase activity			central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)		TCCAGCTCCCGTCCACAGCAC	0.672													39	109					0	0	1	0	0	A	103907873	G	A	103907873	3	1	105	1	0	0	0	0	1	0	0	0	4351	1145	40	1	325	1	DDI1	11	103907873	Missense_Mutation	SNP	G	TCGA-DU-7012-01A-11D-2024-08	2909100	103907873	31098643	36	20298											
ANKK1	255239	broad.mit.edu	37	11	113269791	113269791	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr11:113269791A>C	ENST00000303941.3	+	8	1194	c.1100A>C	c.(1099-1101)cAc>cCc	p.H367P		NM_178510.1	NP_848605.1	Q8NFD2	ANKK1_HUMAN	ankyrin repeat and kinase domain containing 1	367			H -> Q (in dbSNP:rs34298987).				ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|stomach(1)	29		all_cancers(61;1.53e-11)|all_epithelial(67;3e-06)|Melanoma(852;4.04e-05)|all_hematologic(158;0.000315)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0461)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Prostate(24;0.194)		BRCA - Breast invasive adenocarcinoma(274;4.82e-06)|Epithelial(105;5.41e-05)|all cancers(92;0.000442)|OV - Ovarian serous cystadenocarcinoma(223;0.238)		ACCCCCCTCCACTTCCTGGTG	0.597													4	14					0	0	1	0	0	C	113269791	A	C	113269791	3	2	105	1	0	0	0	0	1	0	0	0	627	159	6	5	1130	5	ANKK1	11	113269791	Missense_Mutation	SNP	A	TCGA-DU-7012-01A-11D-2024-08	9361918	113269791	21736725	37	20299											
ADAMTS20	80070	broad.mit.edu	37	12	43840498	43840498	+	Silent	SNP	G	G	A			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr12:43840498G>A	ENST00000389420.3	-	15	2096	c.2097C>T	c.(2095-2097)caC>caT	p.H699H	ADAMTS20_ENST00000553158.1_Silent_p.H699H	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	699	Cys-rich.					proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		AGTTTAACACGTGATCACAAC	0.373													8	15					0	0	1	0	0	A	43840498	G	A	43840498	2	1	105	1	0	0	0	0	0	0	0	1	265	1136	40	1		1	ADAMTS20	12	43840498	Silent	SNP	G	TCGA-DU-7012-01A-11D-2024-08		43840498	90011397	38	20300											
ASCL1	429	broad.mit.edu	37	12	103352171	103352172	+	In_Frame_Ins	INS	-	-	GCA	rs71438488		TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr12:103352171_103352172insGCA	ENST00000266744.3	+	1	708_709	c.149_150insGCA	c.(148-153)gcgcag>gcGCAgcag	p.62_63insQ		NM_004316.3	NP_004307.2	P50553	ASCL1_HUMAN	achaete-scute family bHLH transcription factor 1	62	Poly-Gln.			Q -> QQQ (in Ref. 1).	cerebral cortex GABAergic interneuron differentiation|negative regulation of apoptosis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|noradrenergic neuron fate commitment|Notch signaling pathway|positive regulation of neuron differentiation|positive regulation of transcription from RNA polymerase II promoter|response to retinoic acid|sympathetic nervous system development	nucleus	bHLH transcription factor binding|E-box binding|sequence-specific DNA binding transcription factor activity|transcription factor binding transcription factor activity			NS(3)|large_intestine(1)|lung(1)	5						gcgcagagcgcgcagcagcagc	0.757													3	3	---	---	---	---						GCA	103352172	-	GCA	103352171	7	5	105	1	0	1	1	0	0	0	0	0	1033	768	27	0	151	0	ASCL1	12	103352171	In_Frame_Ins	INS	-	TCGA-DU-7012-01A-11D-2024-08	59511673	103352171	30499724	39	20301											
BTBD11	121551	broad.mit.edu	37	12	108008868	108008868	+	Missense_Mutation	SNP	G	G	A	rs151233634		TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr12:108008868G>A	ENST00000280758.5	+	7	2458	c.1930G>A	c.(1930-1932)Gtc>Atc	p.V644I	BTBD11_ENST00000490090.2_Missense_Mutation_p.V644I|BTBD11_ENST00000357167.4_Missense_Mutation_p.V181I|RP11-128P10.1_ENST00000548473.1_RNA|BTBD11_ENST00000420571.2_Missense_Mutation_p.V644I	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11	644						integral to membrane	DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						ATATCCATCCGTCCACCCCGA	0.413													11	27					0	0	1	0	0	A	108008868	G	A	108008868	3	1	105	1	0	0	0	0	1	0	0	0	1541	1145	40	1	2061	1	BTBD11	12	108008868	Missense_Mutation	SNP	G	TCGA-DU-7012-01A-11D-2024-08	4656697	108008868	25843027	40	20302											
ATP8A2	51761	broad.mit.edu	37	13	26273415	26273415	+	Silent	SNP	G	G	A			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr13:26273415G>A	ENST00000381655.2	+	25	2458	c.2316G>A	c.(2314-2316)gcG>gcA	p.A772A	ATP8A2_ENST00000491840.1_3'UTR|ATP8A2_ENST00000255283.8_Silent_p.A732A	NM_016529.4	NP_057613.4	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8A, member 2	732					ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		TGAAGTACGCGCTCTCCTTCG	0.552													8	48					0	0	1	0	0	A	26273415	G	A	26273415	2	1	105	1	0	0	0	0	0	0	0	1	1191	1074	38	1		1	ATP8A2	13	26273415	Silent	SNP	G	TCGA-DU-7012-01A-11D-2024-08		26273415	88896463	41	20303											
CLEC14A	161198	broad.mit.edu	37	14	38724436	38724436	+	Silent	SNP	G	G	A			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr14:38724436G>A	ENST00000342213.2	-	1	1138	c.792C>T	c.(790-792)gaC>gaT	p.D264D		NM_175060.2	NP_778230.1	Q86T13	CLC14_HUMAN	C-type lectin domain family 14, member A	264	EGF-like.					integral to membrane	sugar binding			breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)		CTCCCAAGTCGTCTAGGCAGT	0.637													61	108					0	0	1	0	0	A	38724436	G	A	38724436	2	1	105	1	0	0	0	0	0	0	0	1	3522	1136	40	1		1	CLEC14A	14	38724436	Silent	SNP	G	TCGA-DU-7012-01A-11D-2024-08		38724436	68625104	42	20304											
INF2	64423	broad.mit.edu	37	14	105174336	105174336	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr14:105174336C>T	ENST00000392634.4	+	8	1844	c.1732C>T	c.(1732-1734)Cgt>Tgt	p.R578C	INF2_ENST00000330634.7_Missense_Mutation_p.R578C	NM_022489.3	NP_071934.3	Q27J81	INF2_HUMAN	inverted formin, FH2 and WH2 domain containing	578	FH2.				actin cytoskeleton organization	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm	actin binding|Rho GTPase binding			large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)		CAACGTGGCACGTGGTGAGGG	0.647													10	25					0	0	1	0	0	T	105174336	C	T	105174336	3	4	105	1	0	0	0	0	1	0	0	0	7778	536	19	1	1762	1	INF2	14	105174336	Missense_Mutation	SNP	C	TCGA-DU-7012-01A-11D-2024-08	66449900	105174336	2175204	43	20305											
VPS13C	54832	broad.mit.edu	37	15	62238562	62238562	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr15:62238562C>T	ENST00000261517.5	-	44	4997	c.4924G>A	c.(4924-4926)Gcc>Acc	p.A1642T	VPS13C_ENST00000395896.4_Missense_Mutation_p.A1642T|VPS13C_ENST00000249837.3_Missense_Mutation_p.A1599T|VPS13C_ENST00000395898.3_Missense_Mutation_p.A1599T	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13 homolog C (S. cerevisiae)	1642					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						TTAAGTCTGGCAAACACATCA	0.318													5	22					0	0	1	0	0	T	62238562	C	T	62238562	3	4	105	1	0	0	0	0	1	0	0	0	17251	710	25	2	6533	2	VPS13C	15	62238562	Missense_Mutation	SNP	C	TCGA-DU-7012-01A-11D-2024-08		62238562	40292830	44	20306											
MFGE8	4240	broad.mit.edu	37	15	89453060	89453060	+	Silent	SNP	C	C	T	rs138080885	byFrequency	TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr15:89453060C>T	ENST00000539437.1	-	3	280	c.144G>A	c.(142-144)acG>acA	p.T48T	MFGE8_ENST00000542878.1_Intron|MFGE8_ENST00000566497.1_Silent_p.T56T|MFGE8_ENST00000559997.1_Intron|MFGE8_ENST00000268150.8_Silent_p.T56T|MFGE8_ENST00000268151.7_Silent_p.T56T			Q08431	MFGM_HUMAN	milk fat globule-EGF factor 8 protein	56	EGF-like.				angiogenesis|cell adhesion|interspecies interaction between organisms|single fertilization					breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	22	Lung NSC(78;0.0392)|all_lung(78;0.077)					CCTTAAGGCACGTGCAGGTGT	0.557													21	82					0	0	1	0	0	T	89453060	C	T	89453060	2	4	105	1	0	0	0	0	0	0	0	1	9570	523	19	1		1	MFGE8	15	89453060	Silent	SNP	C	TCGA-DU-7012-01A-11D-2024-08	27214498	89453060	13078332	45	20307											
RGS11	8786	broad.mit.edu	37	16	321439	321439	+	Silent	SNP	C	C	T			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr16:321439C>T	ENST00000397770.3	-	11	725	c.708G>A	c.(706-708)gcG>gcA	p.A236A	RGS11_ENST00000316163.5_Silent_p.A215A|ARHGDIG_ENST00000464609.1_Intron|RGS11_ENST00000359740.5_Silent_p.A225A			O94810	RGS11_HUMAN	regulator of G-protein signaling 11	236	G protein gamma.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			endometrium(1)|kidney(1)|lung(4)|ovary(1)|pancreas(1)	8		all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186)				TCCTGCCCAGCGCTTTCCTGA	0.647													9	44					0	0	1	0	0	T	321439	C	T	321439	2	4	105	1	0	0	0	0	0	0	0	1	13344	755	27	1		1	RGS11	16	321439	Silent	SNP	C	TCGA-DU-7012-01A-11D-2024-08		321439	90033314	46	20308											
POLR2C	5432	broad.mit.edu	37	16	57504027	57504027	+	Silent	SNP	C	C	T			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr16:57504027C>T	ENST00000219252.5	+	7	932	c.594C>T	c.(592-594)ccC>ccT	p.P198P	POLR2C_ENST00000564651.1_3'UTR	NM_032940.2	NP_116558.1	P19387	RPB3_HUMAN	polymerase (RNA) II (DNA directed) polypeptide C, 33kDa	198					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|protein dimerization activity			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(2)|upper_aerodigestive_tract(1)	10						CAGTGTACCCCAAGCCCGAGG	0.537													13	17					0	0	1	0	0	T	57504027	C	T	57504027	2	4	105	1	0	0	0	0	0	0	0	1	12264	581	21	2		2	POLR2C	16	57504027	Silent	SNP	C	TCGA-DU-7012-01A-11D-2024-08	57182588	57504027	32850726	47	20309											
MYOCD	93649	broad.mit.edu	37	17	12655924	12655924	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr17:12655924G>C	ENST00000425538.1	+	10	1519	c.1319G>C	c.(1318-1320)aGt>aCt	p.S440T	AC005358.1_ENST00000609971.1_Missense_Mutation_p.S344T|MYOCD_ENST00000395988.1_3'UTR|MYOCD_ENST00000343344.4_Missense_Mutation_p.S440T	NM_001146312.1|NM_153604.2	NP_001139784.1|NP_705832.1	Q8IZQ8	MYCD_HUMAN	myocardin	440	Ser-rich.				cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		TCTTCTACCAGTGCCCTGTCC	0.587													34	95					0	0	1	0	0	C	12655924	G	C	12655924	3	2	105	1	0	0	0	0	1	0	0	0	10135	1029	36	4	1357	4	MYOCD	17	12655924	Missense_Mutation	SNP	G	TCGA-DU-7012-01A-11D-2024-08		12655924	68539286	48	20310											
GPR179	440435	broad.mit.edu	37	17	36487200	36487200	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr17:36487200C>T	ENST00000342292.4	-	11	2272	c.2252G>A	c.(2251-2253)cGc>cAc	p.R751H		NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	751						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				GAGCCGGCGGCGGGAGGAGCC	0.697													5	15					0	0	1	0	0	T	36487200	C	T	36487200	3	4	105	1	0	0	0	0	1	0	0	0	6714	768	27	1	4855	1	GPR179	17	36487200	Missense_Mutation	SNP	C	TCGA-DU-7012-01A-11D-2024-08	23831276	36487200	44708010	49	20311											
NFATC1	4772	broad.mit.edu	37	18	77170697	77170697	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr18:77170697T>A	ENST00000253506.5	+	2	791	c.422T>A	c.(421-423)gTg>gAg	p.V141E	NFATC1_ENST00000329101.4_Missense_Mutation_p.V128E|NFATC1_ENST00000318065.5_Missense_Mutation_p.V128E|NFATC1_ENST00000545796.1_Intron|NFATC1_ENST00000427363.2_Missense_Mutation_p.V141E|NFATC1_ENST00000586434.1_Missense_Mutation_p.V128E|NFATC1_ENST00000592223.1_Missense_Mutation_p.V128E|NFATC1_ENST00000397790.2_Intron|NFATC1_ENST00000587635.1_Missense_Mutation_p.V141E|NFATC1_ENST00000542384.1_Missense_Mutation_p.V141E|NFATC1_ENST00000591814.1_Missense_Mutation_p.V141E	NM_006162.3	NP_006153.2	O95644	NFAC1_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1	141	Trans-activation domain A (TAD-A).				intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1)	40		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)		GATGTGGAGGTGGAAGACGTC	0.627													9	22					0	0	1	0	0	A	77170697	T	A	77170697	3	1	105	1	0	0	0	0	1	0	0	0	10408	1696	59	5	520	5	NFATC1	18	77170697	Missense_Mutation	SNP	T	TCGA-DU-7012-01A-11D-2024-08		77170697	906551	50	20312											
FBN3	84467	broad.mit.edu	37	19	8191627	8191627	+	Missense_Mutation	SNP	G	G	A	rs113517176		TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr19:8191627G>A	ENST00000600128.1	-	19	2800	c.2386C>T	c.(2386-2388)Cgg>Tgg	p.R796W	FBN3_ENST00000270509.2_Missense_Mutation_p.R796W|FBN3_ENST00000601739.1_Missense_Mutation_p.R796W			Q75N90	FBN3_HUMAN	fibrillin 3	796	EGF-like 10; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						GGGTCCAGCCGGCTGCCAGGG	0.657													15	36					0	0	1	0	0	A	8191627	G	A	8191627	3	1	105	1	0	0	0	0	1	0	0	0	5737	1115	39	1	6227	1	FBN3	19	8191627	Missense_Mutation	SNP	G	TCGA-DU-7012-01A-11D-2024-08		8191627	50937356	51	20313											
CACNA1A	773	broad.mit.edu	37	19	13565980	13565980	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr19:13565980C>T	ENST00000360228.5	-	2	339	c.340G>A	c.(340-342)Gtc>Atc	p.V114I	CACNA1A_ENST00000573710.2_Missense_Mutation_p.V114I	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	114					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	AGTGCGAGGACGATGCAATTC	0.453													43	116					0	0	1	0	0	T	13565980	C	T	13565980	3	4	105	1	0	0	0	0	1	0	0	0	2556	536	19	1	7478	1	CACNA1A	19	13565980	Missense_Mutation	SNP	C	TCGA-DU-7012-01A-11D-2024-08	5374353	13565980	45563003	52	20314											
CILP2	148113	broad.mit.edu	37	19	19655450	19655450	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr19:19655450G>A	ENST00000586018.1	+	8	2216	c.2114G>A	c.(2113-2115)cGc>cAc	p.R705H	CILP2_ENST00000291495.5_Missense_Mutation_p.R699H			Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	699						proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						GGCTTCCGGCGCGAGGGGTCC	0.706													3	7					0	0	1	0	0	A	19655450	G	A	19655450	3	1	105	1	0	0	0	0	1	0	0	0	3452	1087	38	1	2126	1	CILP2	19	19655450	Missense_Mutation	SNP	G	TCGA-DU-7012-01A-11D-2024-08	6089470	19655450	39473533	53	20315											
SHKBP1	92799	broad.mit.edu	37	19	41096328	41096328	+	Splice_Site	SNP	G	G	A			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr19:41096328G>A	ENST00000291842.5	+	16	1817	c.1768G>A	c.(1768-1770)Gca>Aca	p.A590T	SHKBP1_ENST00000600733.1_Splice_Site_p.A565T	NM_138392.3	NP_612401.2	Q8TBC3	SHKB1_HUMAN	SH3KBP1 binding protein 1	590						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(3)|urinary_tract(1)	29			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CCAGGCCCCTGGTACTCCCTG	0.682													7	22					0	0	1	0	0	A	41096328	G	A	41096328	5	1	105	1	0	0	0	0	0	0	1	0	14339	1362	47	2	1830	2	SHKBP1	19	41096328	Splice_Site	SNP	G	TCGA-DU-7012-01A-11D-2024-08	21440878	41096328	18032655	54	20316											
PSG11	5680	broad.mit.edu	37	19	43528993	43528993	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr19:43528993C>T	ENST00000401740.1	-	2	383	c.280G>A	c.(280-282)Gca>Aca	p.A94T	PSG11_ENST00000403486.1_Intron|PSG11_ENST00000320078.7_Missense_Mutation_p.A94T|PSG11_ENST00000306322.7_Intron			Q9UQ72	PSG11_HUMAN	pregnancy specific beta-1-glycoprotein 11	94	Ig-like V-type.				female pregnancy	extracellular region				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	26		Prostate(69;0.00682)				CCACTGTATGCCGGTCCATAT	0.443													6	366					0	0	1	0	0	T	43528993	C	T	43528993	3	4	105	1	0	0	0	0	1	0	0	0	12703	739	26	2	743	2	PSG11	19	43528993	Missense_Mutation	SNP	C	TCGA-DU-7012-01A-11D-2024-08	2432665	43528993	15599990	55	20317											
SLC8A2	6543	broad.mit.edu	37	19	47935602	47935602	+	Silent	SNP	G	G	A			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr19:47935602G>A	ENST00000236877.6	-	9	2606	c.2211C>T	c.(2209-2211)ttC>ttT	p.F737F	SLC8A2_ENST00000539381.1_Silent_p.F200F|SLC8A2_ENST00000542837.1_Silent_p.F493F	NM_015063.2	NP_055878.1	Q9UPR5	NAC2_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 2	737					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1)	31		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)		GCACACAGGCGAAGAGCACCT	0.652													26	76					0	0	1	0	0	A	47935602	G	A	47935602	2	1	105	1	0	0	0	0	0	0	0	1	14762	1049	37	1		1	SLC8A2	19	47935602	Silent	SNP	G	TCGA-DU-7012-01A-11D-2024-08	4406609	47935602	11193381	56	20318											
CCDC114	93233	broad.mit.edu	37	19	48800756	48800756	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr19:48800756G>A	ENST00000315396.7	-	14	2172	c.1490C>T	c.(1489-1491)gCg>gTg	p.A497V		NM_144577.3	NP_653178.3	Q96M63	CC114_HUMAN	coiled-coil domain containing 114	497										cervix(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)	24		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000162)|Epithelial(262;0.0134)|GBM - Glioblastoma multiforme(486;0.0143)		CTGCGCCTCCGCCTGCTCCTG	0.721													5	23					0	0	1	0	0	A	48800756	G	A	48800756	3	1	105	1	0	0	0	0	1	0	0	0	2769	1087	38	1	526	1	CCDC114	19	48800756	Missense_Mutation	SNP	G	TCGA-DU-7012-01A-11D-2024-08	865154	48800756	10328227	57	20319											
KLK8	11202	broad.mit.edu	37	19	51499377	51499377	+	Missense_Mutation	SNP	C	C	T	rs56296296	byFrequency	TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr19:51499377C>T	ENST00000600767.1	-	7	1210	c.721G>A	c.(721-723)Gtc>Atc	p.V241I	KLK8_ENST00000593490.1_3'UTR|KLK8_ENST00000391806.2_Missense_Mutation_p.V286I|KLK8_ENST00000347619.4_Missense_Mutation_p.V100I|KLK8_ENST00000320838.5_3'UTR|KLK8_ENST00000291726.7_Missense_Mutation_p.V241I|KLK8_ENST00000598195.1_5'UTR|CTB-147C22.9_ENST00000594512.1_RNA			O60259	KLK8_HUMAN	kallikrein-related peptidase 8	241	Peptidase S1.				cell death|keratinocyte proliferation|memory|negative regulation of axon regeneration|negative regulation of myelination|neuron projection morphogenesis|proteolysis|regulation of synapse organization|response to wounding	cytoplasm|extracellular space	protein binding|serine-type endopeptidase activity	p.V286I(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(8)|prostate(1)	15		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.0033)|GBM - Glioblastoma multiforme(134;0.00888)		TTGGTATAGACGCCAGGTTTG	0.542													41	133					0	0	1	0	0	T	51499377	C	T	51499377	3	4	105	1	0	0	0	0	1	0	0	0	8453	536	19	1	65	1	KLK8	19	51499377	Missense_Mutation	SNP	C	TCGA-DU-7012-01A-11D-2024-08	2698621	51499377	7629606	58	20320											
LILRA6	79168	broad.mit.edu	37	19	54744925	54744925	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr19:54744925C>A	ENST00000440558.2	-	5	785	c.737G>T	c.(736-738)gGc>gTc	p.G246V	LILRB3_ENST00000407860.2_Intron|LILRA6_ENST00000419410.2_Missense_Mutation_p.G246V|LILRA6_ENST00000270464.5_Intron|LILRA6_ENST00000391735.3_3'UTR|LILRA6_ENST00000245621.5_Missense_Mutation_p.G246V|LILRA6_ENST00000396365.2_Missense_Mutation_p.G246V					leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6											central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(20)|ovary(3)|skin(2)|urinary_tract(2)	38	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GACATCAGAGCCACACTGGAG	0.652													4	110					0.000602214	0.000621852	1	1	0	A	54744925	C	A	54744925	3	1	105	1	0	0	0	0	1	0	0	0	8829	739	26	5	724	5	LILRA6	19	54744925	Missense_Mutation	SNP	C	TCGA-DU-7012-01A-11D-2024-08	3245548	54744925	4384058	59	20321											
PEG3	5178	broad.mit.edu	37	19	57327274	57327274	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr19:57327274T>C	ENST00000326441.9	-	10	2899	c.2536A>G	c.(2536-2538)Agt>Ggt	p.S846G	ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000599935.1_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.S846G|PEG3_ENST00000593695.1_Missense_Mutation_p.S720G|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.S722G|ZIM2_ENST00000391708.3_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	846					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.S846G(2)		NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		CCATTGTGACTTCTTGGAGGT	0.433													23	50					0	0	1	0	0	C	57327274	T	C	57327274	3	2	105	1	0	0	0	0	1	0	0	0	11767	1609	56	3	2234	3	PEG3	19	57327274	Missense_Mutation	SNP	T	TCGA-DU-7012-01A-11D-2024-08	2582349	57327274	1801709	60	20322											
WISP2	8839	broad.mit.edu	37	20	43355905	43355905	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr20:43355905G>C	ENST00000372868.2	+	5	1053	c.710G>C	c.(709-711)tGc>tCc	p.C237S	RP11-445H22.4_ENST00000427598.1_RNA|RP11-445H22.4_ENST00000427303.1_RNA|WISP2_ENST00000471629.1_3'UTR|WISP2_ENST00000372865.4_Missense_Mutation_p.A155P|RP11-445H22.4_ENST00000445420.1_RNA|WISP2_ENST00000190983.4_Missense_Mutation_p.C237S			O76076	WISP2_HUMAN	WNT1 inducible signaling pathway protein 2	237	TSP type-1.				cell adhesion|cell-cell signaling|signal transduction	extracellular region|soluble fraction	insulin-like growth factor binding			skin(1)	1		Myeloproliferative disorder(115;0.0122)				TCCAGGCCCTGCCCACCCTCC	0.677													12	38					0	0	1	0	0	C	43355905	G	C	43355905	3	2	105	1	0	0	0	0	1	0	0	0	17433	1319	46	5	724	5	WISP2	20	43355905	Missense_Mutation	SNP	G	TCGA-DU-7012-01A-11D-2024-08		43355905	19669615	61	20323											
KCNB1	3745	broad.mit.edu	37	20	47989555	47989555	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr20:47989555C>T	ENST00000371741.4	-	2	2708	c.2542G>A	c.(2542-2544)Gga>Aga	p.G848R		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	848					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			CCATGGGCTCCTCCCCCTGGC	0.537													11	33					0	0	1	0	0	T	47989555	C	T	47989555	3	4	105	1	0	0	0	0	1	0	0	0	8056	690	24	2	38	2	KCNB1	20	47989555	Missense_Mutation	SNP	C	TCGA-DU-7012-01A-11D-2024-08	4633650	47989555	15035965	62	20324											
COL20A1	57642	broad.mit.edu	37	20	61951525	61951525	+	Silent	SNP	G	G	A			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr20:61951525G>A	ENST00000422202.1	+	23	3140	c.3072G>A	c.(3070-3072)agG>agA	p.R1024R	COL20A1_ENST00000326996.6_Silent_p.R1017R|COL20A1_ENST00000435874.1_Silent_p.R1024R|COL20A1_ENST00000358894.6_Silent_p.R1017R			Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	1017	TSP N-terminal.				cell adhesion	collagen|extracellular space	structural molecule activity			NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					CCAAGGCCAGGGGCCCCCGGA	0.736													7	14					0	0	1	0	0	A	61951525	G	A	61951525	2	1	105	1	0	0	0	0	0	0	0	1	3702	1223	43	2		2	COL20A1	20	61951525	Silent	SNP	G	TCGA-DU-7012-01A-11D-2024-08	13961970	61951525	1073995	63	20325											
ABCG1	9619	broad.mit.edu	37	21	43704748	43704748	+	Silent	SNP	C	C	T			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr21:43704748C>T	ENST00000398437.1	+	8	1399	c.1251C>T	c.(1249-1251)tgC>tgT	p.C417C	ABCG1_ENST00000347800.2_Silent_p.C268C|ABCG1_ENST00000340588.4_Silent_p.C379C|ABCG1_ENST00000462050.1_3'UTR|ABCG1_ENST00000398457.2_Silent_p.C273C|ABCG1_ENST00000398449.3_Silent_p.C271C|ABCG1_ENST00000361802.2_Silent_p.C271C|ABCG1_ENST00000343687.3_Silent_p.C282C			P45844	ABCG1_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 1	271	ABC transmembrane type-2.				amyloid precursor protein catabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|detection of hormone stimulus|high-density lipoprotein particle remodeling|intracellular cholesterol transport|lipoprotein metabolic process|low-density lipoprotein particle remodeling|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|positive regulation of cholesterol biosynthetic process|regulation of cholesterol esterification|regulation of transcription, DNA-dependent|response to lipid|reverse cholesterol transport	endoplasmic reticulum membrane|external side of plasma membrane|Golgi membrane|recycling endosome	ADP binding|ATP binding|cholesterol transporter activity|glycoprotein transporter activity|phospholipid transporter activity|protein heterodimerization activity|protein homodimerization activity|sterol-transporting ATPase activity|toxin transporter activity			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(3)|prostate(2)|stomach(1)	29					Adenosine triphosphate(DB00171)	CCATCATTTGCACCATCCACC	0.642													4	121					0	0	1	0	0	T	43704748	C	T	43704748	2	4	105	1	0	0	0	0	0	0	0	1	68	718	25	2		2	ABCG1	21	43704748	Silent	SNP	C	TCGA-DU-7012-01A-11D-2024-08		43704748	4425147	64	20326											
ZNF280B	140883	broad.mit.edu	37	22	22843526	22843526	+	Silent	SNP	C	C	T			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr22:22843526C>T	ENST00000360412.2	-	4	973	c.198G>A	c.(196-198)ccG>ccA	p.P66P	ZNF280B_ENST00000406426.1_Silent_p.P66P	NM_080764.2	NP_542942.1	Q86YH2	Z280B_HUMAN	zinc finger protein 280B	66					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(2)	22	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		ACCATGAACCCGGGGTGACTC	0.408													14	78					0	0	1	0	0	T	22843526	C	T	22843526	2	4	105	1	0	0	0	0	0	0	0	1	17873	639	23	1		1	ZNF280B	22	22843526	Silent	SNP	C	TCGA-DU-7012-01A-11D-2024-08		22843526	28461040	65	20327											
SLC5A1	6523	broad.mit.edu	37	22	32487648	32487648	+	Silent	SNP	C	C	T			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr22:32487648C>T	ENST00000266088.4	+	11	1429	c.1179C>T	c.(1177-1179)tcC>tcT	p.S393S	SLC5A1_ENST00000543737.1_Silent_p.S266S	NM_000343.3	NP_000334.1	P13866	SC5A1_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 1	393					carbohydrate metabolic process	integral to plasma membrane	glucose:sodium symporter activity|protein binding			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	37						TCATGAGCTCCCTGACCTCCA	0.527													24	76					0	0	1	0	0	T	32487648	C	T	32487648	2	4	105	1	0	0	0	0	0	0	0	1	14716	610	22	2		2	SLC5A1	22	32487648	Silent	SNP	C	TCGA-DU-7012-01A-11D-2024-08	9644122	32487648	18816918	66	20328											
CCDC134	79879	broad.mit.edu	37	22	42221755	42221755	+	Silent	SNP	C	C	A			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr22:42221755C>A	ENST00000255784.5	+	7	722	c.618C>A	c.(616-618)cgC>cgA	p.R206R	CCDC134_ENST00000402061.3_Silent_p.R93R	NM_024821.2	NP_079097.1	Q9H6E4	CC134_HUMAN	coiled-coil domain containing 134	206	Arg/Glu/Lys-rich (mixed charge).					extracellular region				large_intestine(1)|lung(2)|ovary(2)|skin(1)	6						AAGAGAAACGCCGAAAGAAAG	0.532													18	50					3.52763e-06	3.72361e-06	1	1	0	A	42221755	C	A	42221755	2	1	105	1	0	0	0	0	0	0	0	1	2786	726	26	5		5	CCDC134	22	42221755	Silent	SNP	C	TCGA-DU-7012-01A-11D-2024-08	9734107	42221755	9082811	67	20329											
GATA1	2623	broad.mit.edu	37	X	48650342	48650342	+	Silent	SNP	C	C	T			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chrX:48650342C>T	ENST00000376670.3	+	3	423	c.312C>T	c.(310-312)taC>taT	p.Y104Y	GATA1_ENST00000376665.3_Silent_p.Y104Y	NM_002049.3	NP_002040.1	P15976	GATA1_HUMAN	GATA binding protein 1 (globin transcription factor 1)	104					basophil differentiation|eosinophil differentiation|erythrocyte development|megakaryocyte differentiation|platelet aggregation|platelet formation|positive regulation of anti-apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|regulation of glycoprotein biosynthetic process|transcription from RNA polymerase II promoter	nuclear membrane|nucleolus|nucleoplasm	C2H2 zinc finger domain binding|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.?(2)|p.V77_A120>A(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(259)|large_intestine(8)|lung(9)|prostate(1)	283						CGGGGCTCTACCCTGCCTCAA	0.597			"Mis, F"		megakaryoblastic leukemia of Downs Syndrome								12	51					0	0	1	0	0	T	48650342	C	T	48650342	2	4	105	1	0	0	0	0	0	0	0	1	6293	518	18	2		2	GATA1	23	48650342	Silent	SNP	C	TCGA-DU-7012-01A-11D-2024-08		48650342	106620218	68	20330											
HUWE1	10075	broad.mit.edu	37	X	53654434	53654434	+	Silent	SNP	C	C	T	rs145017919	byFrequency	TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chrX:53654434C>T	ENST00000342160.3	-	16	1873	c.1416G>A	c.(1414-1416)ccG>ccA	p.P472P	HUWE1_ENST00000262854.6_Silent_p.P472P|HUWE1_ENST00000218328.8_Silent_p.P472P			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	472					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						TGATCACAAACGGACATTCTT	0.318													21	80					0	0	1	0	0	T	53654434	C	T	53654434	2	4	105	1	0	0	0	0	0	0	0	1	7505	523	19	1		1	HUWE1	23	53654434	Silent	SNP	C	TCGA-DU-7012-01A-11D-2024-08	5004092	53654434	101616126	69	20331											
SLC7A3	84889	broad.mit.edu	37	X	70148064	70148064	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chrX:70148064C>T	ENST00000374299.3	-	5	895	c.751G>A	c.(751-753)Gag>Aag	p.E251K	SLC7A3_ENST00000298085.4_Missense_Mutation_p.E251K			Q8WY07	CTR3_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 3	251					cellular nitrogen compound metabolic process	integral to membrane|plasma membrane				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|urinary_tract(1)	31	Renal(35;0.156)				L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	AGAATTCCCTCGAAGCCGAAA	0.498													4	26					0	0	1	0	0	T	70148064	C	T	70148064	3	4	105	1	0	0	0	0	1	0	0	0	14753	893	31	1	1140	1	SLC7A3	23	70148064	Missense_Mutation	SNP	C	TCGA-DU-7012-01A-11D-2024-08	16493630	70148064	85122496	70	20332											
TCEAL3	85012	broad.mit.edu	37	X	102864217	102864217	+	Silent	SNP	G	G	A			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chrX:102864217G>A	ENST00000372628.1	+	3	583	c.225G>A	c.(223-225)gaG>gaA	p.E75E	TCEAL3_ENST00000477014.1_Intron|TCEAL3_ENST00000372627.5_Silent_p.E75E|TCEAL3_ENST00000243286.3_Silent_p.E75E			Q969E4	TCAL3_HUMAN	transcription elongation factor A (SII)-like 3	75	Glu-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	16						CCGAAGGTGAGGGCAAGCCAC	0.622													44	159					0	0	1	0	0	A	102864217	G	A	102864217	2	1	105	1	0	0	0	0	0	0	0	1	15732	991	35	2		2	TCEAL3	23	102864217	Silent	SNP	G	TCGA-DU-7012-01A-11D-2024-08	32716153	102864217	52406343	71	20333											
PNMA3	29944	broad.mit.edu	37	X	152226634	152226634	+	Missense_Mutation	SNP	C	C	T	rs148950007	byFrequency	TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chrX:152226634C>T	ENST00000447306.1	+	2	1558	c.1222C>T	c.(1222-1224)Cgg>Tgg	p.R408W	PNMA3_ENST00000370265.4_Missense_Mutation_p.R408W|PNMA3_ENST00000370264.4_Missense_Mutation_p.R408W	NM_013364.4	NP_037496.4	Q9UL41	PNMA3_HUMAN	paraneoplastic Ma antigen 3	408	Arg-rich.				apoptosis	nucleolus	nucleic acid binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	16	Acute lymphoblastic leukemia(192;6.56e-05)					CTCAAGAAAACGGAAACGCCA	0.577													37	107					0	0	1	0	0	T	152226634	C	T	152226634	3	4	105	1	0	0	0	0	1	0	0	0	12203	527	19	1	1224	1	PNMA3	23	152226634	Missense_Mutation	SNP	C	TCGA-DU-7012-01A-11D-2024-08	49362417	152226634	3043926	72	20334											
FLNA	2316	broad.mit.edu	37	X	153588484	153588484	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chrX:153588484C>T	ENST00000422373.1	-	22	3927	c.3679G>A	c.(3679-3681)Ggg>Agg	p.G1227R	FLNA_ENST00000360319.4_Missense_Mutation_p.G1227R|FLNA_ENST00000344736.4_Missense_Mutation_p.G1227R|FLNA_ENST00000369850.3_Missense_Mutation_p.G1227R	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN	filamin A, alpha	1227					actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GTGTAGGCCCCGGGGCAGAGG	0.637													13	76					0	0	1	0	0	T	153588484	C	T	153588484	3	4	105	1	0	0	0	0	1	0	0	0	5966	652	23	1	4372	1	FLNA	23	153588484	Missense_Mutation	SNP	C	TCGA-DU-7012-01A-11D-2024-08	1361850	153588484	1682076	73	20335											
IL9R	3581	broad.mit.edu	37	X	155239557	155239557	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chrX:155239557C>T	ENST00000424344.3	+	10	1353	c.986C>T	c.(985-987)cCc>cTc	p.P329L	IL9R_ENST00000244174.5_Missense_Mutation_p.P350L|IL9R_ENST00000540897.1_3'UTR|IL9R_ENST00000369423.2_3'UTR			Q01113	IL9R_HUMAN	interleukin 9 receptor	350					cell proliferation	extracellular space|integral to plasma membrane	interleukin-9 receptor activity			NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(12)|upper_aerodigestive_tract(1)	23	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					GCCTTGGAGCCCTGCGTCCAG	0.672													9	14					0	0	1	0	0	T	155239557	C	T	155239557	3	4	105	1	0	0	0	0	1	0	0	0	7752	623	22	2	1083	2	IL9R	23	155239557	Missense_Mutation	SNP	C	TCGA-DU-7012-01A-11D-2024-08	1651073	155239557	31003	74	20336											
KCNH1	3756	broad.mit.edu	37	1	210856965	210856965	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-7013-01A-11D-2024-08	TCGA-DU-7013-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0eb92a8-7607-4cfb-b2a5-a65aa707a4b7	e7a1b446-ae3d-4f8f-a976-fdaa7902e760	g.chr1:210856965C>G	ENST00000367007.4	-	11	2716	c.2547G>C	c.(2545-2547)aaG>aaC	p.K849N	KCNH1_ENST00000271751.4_Missense_Mutation_p.K876N	NM_002238.3|NM_172362.2	NP_002229.1|NP_758872.1	O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1	876					myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		ACGAGTCTGTCTTCTTCAGTG	0.592													24	49					0	0	1	0	0	G	210856965	C	G	210856965	3	3	106	1	0	0	0	0	1	0	0	0	8075	912	32	4	345	4	KCNH1	1	210856965	Missense_Mutation	SNP	C	TCGA-DU-7013-01A-11D-2024-08		210856965	38393656	1	20337											
MYT1L	23040	broad.mit.edu	37	2	1843079	1843079	+	Silent	SNP	G	G	A			TCGA-DU-7013-01A-11D-2024-08	TCGA-DU-7013-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0eb92a8-7607-4cfb-b2a5-a65aa707a4b7	e7a1b446-ae3d-4f8f-a976-fdaa7902e760	g.chr2:1843079G>A	ENST00000399161.2	-	21	3669	c.2922C>T	c.(2920-2922)agC>agT	p.S974S	MYT1L_ENST00000428368.2_Silent_p.S972S|MYT1L_ENST00000471668.1_5'UTR|MYT1L_ENST00000407844.1_5'UTR	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	974					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		ACCCGGAGGCGCTGCGATGGG	0.632													29	37					0	0	1	0	0	A	1843079	G	A	1843079	2	1	106	1	0	0	0	0	0	0	0	1	10155	1078	38	1		1	MYT1L	2	1843079	Silent	SNP	G	TCGA-DU-7013-01A-11D-2024-08		1843079	241356294	2	20338											
NLRC4	58484	broad.mit.edu	37	2	32476671	32476671	+	Splice_Site	SNP	C	C	T			TCGA-DU-7013-01A-11D-2024-08	TCGA-DU-7013-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0eb92a8-7607-4cfb-b2a5-a65aa707a4b7	e7a1b446-ae3d-4f8f-a976-fdaa7902e760	g.chr2:32476671C>T	ENST00000404025.2	-	5	751		c.e5-1		NLRC4_ENST00000402280.1_Splice_Site|NLRC4_ENST00000342905.6_Intron|NLRC4_ENST00000360906.5_Splice_Site			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4						activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					TGAAAAAGACCTATTAGAGAA	0.448													22	27					0	0	1	0	0	T	32476671	C	T	32476671	5	4	106	1	0	0	0	0	0	0	1	0	10516	695	24	2	2836	2	NLRC4	2	32476671	Splice_Site	SNP	C	TCGA-DU-7013-01A-11D-2024-08	30633592	32476671	210722702	3	20339											
EDAR	10913	broad.mit.edu	37	2	109527457	109527457	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7013-01A-11D-2024-08	TCGA-DU-7013-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0eb92a8-7607-4cfb-b2a5-a65aa707a4b7	e7a1b446-ae3d-4f8f-a976-fdaa7902e760	g.chr2:109527457C>T	ENST00000409271.1	-	8	1044	c.601G>A	c.(601-603)Gcc>Acc	p.A201T	EDAR_ENST00000258443.2_Missense_Mutation_p.A201T|EDAR_ENST00000376651.1_Missense_Mutation_p.A201T			Q9UNE0	EDAR_HUMAN	ectodysplasin A receptor	201					apoptosis|cell differentiation	integral to membrane	protein binding|transmembrane receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16						aggacgatggcgatggccatg	0.577													16	21					0	0	1	0	0	T	109527457	C	T	109527457	3	4	106	1	0	0	0	0	1	0	0	0	4931	768	27	1	769	1	EDAR	2	109527457	Missense_Mutation	SNP	C	TCGA-DU-7013-01A-11D-2024-08	77050786	109527457	133671916	4	20340											
LCT	3938	broad.mit.edu	37	2	136566631	136566631	+	Missense_Mutation	SNP	C	C	T	rs146467199	byFrequency	TCGA-DU-7013-01A-11D-2024-08	TCGA-DU-7013-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0eb92a8-7607-4cfb-b2a5-a65aa707a4b7	e7a1b446-ae3d-4f8f-a976-fdaa7902e760	g.chr2:136566631C>T	ENST00000264162.2	-	8	3296	c.3286G>A	c.(3286-3288)Gcc>Acc	p.A1096T		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	1096	4 X approximate repeats.			A -> T (in Ref. 1; CAA30801).	carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		TTGATGACGGCGTGGGCTATC	0.552													18	29					0	0	1	0	0	T	136566631	C	T	136566631	3	4	106	1	0	0	0	0	1	0	0	0	8732	768	27	1	2537	1	LCT	2	136566631	Missense_Mutation	SNP	C	TCGA-DU-7013-01A-11D-2024-08	27039174	136566631	106632742	5	20341											
PDE11A	50940	broad.mit.edu	37	2	178682596	178682596	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-7013-01A-11D-2024-08	TCGA-DU-7013-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0eb92a8-7607-4cfb-b2a5-a65aa707a4b7	e7a1b446-ae3d-4f8f-a976-fdaa7902e760	g.chr2:178682596G>A	ENST00000286063.6	-	8	1950	c.1633C>T	c.(1633-1635)Cga>Tga	p.R545*	PDE11A_ENST00000389683.3_Nonsense_Mutation_p.R101*|PDE11A_ENST00000358450.4_Nonsense_Mutation_p.R295*|PDE11A_ENST00000497003.1_5'UTR|PDE11A_ENST00000409504.1_Nonsense_Mutation_p.R187*|PDE11A_ENST00000449286.2_Nonsense_Mutation_p.R187*	NM_016953.3	NP_058649.3	Q9HCR9	PDE11_HUMAN	phosphodiesterase 11A		GAF 2.				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)			TCAAAAAGTCGTTGATCTGCA	0.378									Primary Pigmented Nodular Adrenocortical Disease, Familial				20	9					0	0	1	0	0	A	178682596	G	A	178682596	4	1	106	1	0	0	0	0	0	1	0	0	11678	1153	40	1	1220	1	PDE11A	2	178682596	Nonsense_Mutation	SNP	G	TCGA-DU-7013-01A-11D-2024-08	42115965	178682596	64516777	6	20342											
FGD5	152273	broad.mit.edu	37	3	14861759	14861759	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-7013-01A-11D-2024-08	TCGA-DU-7013-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0eb92a8-7607-4cfb-b2a5-a65aa707a4b7	e7a1b446-ae3d-4f8f-a976-fdaa7902e760	g.chr3:14861759G>C	ENST00000285046.5	+	1	1291	c.1181G>C	c.(1180-1182)tGt>tCt	p.C394S	FGD5_ENST00000543601.1_Missense_Mutation_p.C153S	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	394					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						GGGGCTTTGTGTGGCCAGTGT	0.617													17	22					0	0	1	0	0	C	14861759	G	C	14861759	3	2	106	1	0	0	0	0	1	0	0	0	5869	1377	48	5	1183	5	FGD5	3	14861759	Missense_Mutation	SNP	G	TCGA-DU-7013-01A-11D-2024-08		14861759	183160671	7	20343											
DNAH1	25981	broad.mit.edu	37	3	52428569	52428569	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7013-01A-11D-2024-08	TCGA-DU-7013-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0eb92a8-7607-4cfb-b2a5-a65aa707a4b7	e7a1b446-ae3d-4f8f-a976-fdaa7902e760	g.chr3:52428569G>A	ENST00000420323.2	+	67	10976	c.10715G>A	c.(10714-10716)cGa>cAa	p.R3572Q		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	3637					ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CGGGCTTGGCGAGACATCCTA	0.577													20	36					0	0	1	0	0	A	52428569	G	A	52428569	3	1	106	1	0	0	0	0	1	0	0	0	4625	1058	37	1	10977	1	DNAH1	3	52428569	Missense_Mutation	SNP	G	TCGA-DU-7013-01A-11D-2024-08	37566810	52428569	145593861	8	20344											
TMPRSS11F	389208	broad.mit.edu	37	4	68925146	68925146	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DU-7013-01A-11D-2024-08	TCGA-DU-7013-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0eb92a8-7607-4cfb-b2a5-a65aa707a4b7	e7a1b446-ae3d-4f8f-a976-fdaa7902e760	g.chr4:68925146delG	ENST00000356291.2	-	9	1115	c.1056delC	c.(1054-1056)accfs	p.T352fs	UBA6-AS1_ENST00000500538.2_RNA	NM_207407.2	NP_997290.2	Q6ZWK6	TM11F_HUMAN	transmembrane protease, serine 11F	352	Peptidase S1.				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(4)	39						CAGTGCTTATGGTTTCCACTC	0.363													21	30	---	---	---	---						-	68925146	G	-	68925146	7	5	106	1	0	1	0	1	0	0	0	0	16303	1335	47	0	268	0	TMPRSS11F	4	68925146	Frame_Shift_Del	DEL	G	TCGA-DU-7013-01A-11D-2024-08		68925146	122229130	9	20345											
GK2	2712	broad.mit.edu	37	4	80327904	80327904	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-7013-01A-11D-2024-08	TCGA-DU-7013-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0eb92a8-7607-4cfb-b2a5-a65aa707a4b7	e7a1b446-ae3d-4f8f-a976-fdaa7902e760	g.chr4:80327904A>G	ENST00000358842.3	-	1	1468	c.1451T>C	c.(1450-1452)aTg>aCg	p.M484T		NM_033214.2	NP_149991.2	Q14410	GLPK2_HUMAN	glycerol kinase 2	484					glycerol-3-phosphate metabolic process	mitochondrial outer membrane	ATP binding|glycerol kinase activity			autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	39						AAATCGTTCCATCCTGAGAAC	0.507													53	63					0	0	1	0	0	G	80327904	A	G	80327904	3	3	106	1	0	0	0	0	1	0	0	0	6463	217	8	3	214	3	GK2	4	80327904	Missense_Mutation	SNP	A	TCGA-DU-7013-01A-11D-2024-08	11402758	80327904	110826372	10	20346											
ADH1A	124	broad.mit.edu	37	4	100205899	100205899	+	Silent	SNP	C	C	T			TCGA-DU-7013-01A-11D-2024-08	TCGA-DU-7013-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0eb92a8-7607-4cfb-b2a5-a65aa707a4b7	e7a1b446-ae3d-4f8f-a976-fdaa7902e760	g.chr4:100205899C>T	ENST00000209668.2	-	4	434	c.321G>A	c.(319-321)ccG>ccA	p.P107P	RP11-696N14.1_ENST00000500358.2_RNA	NM_000667.3	NP_000658.1	P07327	ADH1A_HUMAN	alcohol dehydrogenase 1A (class I), alpha polypeptide	107					ethanol oxidation|transcription, DNA-dependent|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|protein binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)	25				OV - Ovarian serous cystadenocarcinoma(123;9.56e-08)	Fomepizole(DB01213)|NADH(DB00157)	AGTTGCTCTCCGGGTTTTTAC	0.418													18	26					0	0	1	0	0	T	100205899	C	T	100205899	2	4	106	1	0	0	0	0	0	0	0	1	306	639	23	1		1	ADH1A	4	100205899	Silent	SNP	C	TCGA-DU-7013-01A-11D-2024-08	19877995	100205899	90948377	11	20347											
NDST3	9348	broad.mit.edu	37	4	118975505	118975505	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7013-01A-11D-2024-08	TCGA-DU-7013-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0eb92a8-7607-4cfb-b2a5-a65aa707a4b7	e7a1b446-ae3d-4f8f-a976-fdaa7902e760	g.chr4:118975505G>A	ENST00000296499.5	+	2	843	c.440G>A	c.(439-441)cGa>cAa	p.R147Q	NDST3_ENST00000433996.2_Missense_Mutation_p.R147Q	NM_004784.2	NP_004775.1	O95803	NDST3_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3	147	Heparan sulfate N-deacetylase 3.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						TCCTGGAATCGAAGCCTTCTA	0.343													15	20					0	0	1	0	0	A	118975505	G	A	118975505	3	1	106	1	0	0	0	0	1	0	0	0	10304	1058	37	1	442	1	NDST3	4	118975505	Missense_Mutation	SNP	G	TCGA-DU-7013-01A-11D-2024-08	18769606	118975505	72178771	12	20348											
FGA	2243	broad.mit.edu	37	4	155507658	155507658	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7013-01A-11D-2024-08	TCGA-DU-7013-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0eb92a8-7607-4cfb-b2a5-a65aa707a4b7	e7a1b446-ae3d-4f8f-a976-fdaa7902e760	g.chr4:155507658C>T	ENST00000302053.3	-	5	1001	c.923G>A	c.(922-924)cGa>cAa	p.R308Q	FGA_ENST00000403106.3_Missense_Mutation_p.R308Q	NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	308					platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding	p.R308Q(1)		NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	CCCAGGGTTTCGGTTTCCAGT	0.572													85	104					0	0	1	0	0	T	155507658	C	T	155507658	3	4	106	1	0	0	0	0	1	0	0	0	5863	884	31	1	1729	1	FGA	4	155507658	Missense_Mutation	SNP	C	TCGA-DU-7013-01A-11D-2024-08	36532153	155507658	35646618	13	20349											
TPPP	11076	broad.mit.edu	37	5	665358	665358	+	Silent	SNP	C	C	A			TCGA-DU-7013-01A-11D-2024-08	TCGA-DU-7013-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0eb92a8-7607-4cfb-b2a5-a65aa707a4b7	e7a1b446-ae3d-4f8f-a976-fdaa7902e760	g.chr5:665358C>A	ENST00000360578.5	-	4	640	c.519G>T	c.(517-519)acG>acT	p.T173T	CEP72_ENST00000514507.1_3'UTR	NM_007030.2	NP_008961.1	O94811	TPPP_HUMAN	tubulin polymerization promoting protein	173					microtubule bundle formation|microtubule polymerization|positive regulation of protein polymerization	nucleus|perinuclear region of cytoplasm|soluble fraction	calcium ion binding|microtubule binding			kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5		Ovarian(839;0.0563)	Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863)	GBM - Glioblastoma multiforme(108;0.0191)		TGTGGGAGCCCGTGAACTTGG	0.632													3	34					0.004672	0.004672	1	1	0	A	665358	C	A	665358	2	1	106	1	0	0	0	0	0	0	0	1	16474	639	23	5		5	TPPP	5	665358	Silent	SNP	C	TCGA-DU-7013-01A-11D-2024-08		665358	180249902	14	20350											
NUP155	9631	broad.mit.edu	37	5	37364077	37364077	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-7013-01A-11D-2024-08	TCGA-DU-7013-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0eb92a8-7607-4cfb-b2a5-a65aa707a4b7	e7a1b446-ae3d-4f8f-a976-fdaa7902e760	g.chr5:37364077C>G	ENST00000231498.3	-	3	508	c.305G>C	c.(304-306)tGt>tCt	p.C102S	NUP155_ENST00000381843.2_Missense_Mutation_p.C43S|NUP155_ENST00000513532.1_Missense_Mutation_p.C102S	NM_153485.1	NP_705618.1	O75694	NU155_HUMAN	nucleoporin 155kDa	102					carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore	protein binding|structural constituent of nuclear pore|transporter activity			endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	62	all_lung(31;0.000137)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CATGCAATTACACTGCATATC	0.373													28	39					0	0	1	0	0	G	37364077	C	G	37364077	3	3	106	1	0	0	0	0	1	0	0	0	10804	478	17	5	4002	5	NUP155	5	37364077	Missense_Mutation	SNP	C	TCGA-DU-7013-01A-11D-2024-08	36698719	37364077	143551183	15	20351											
AP3S1	1176	broad.mit.edu	37	5	115177767	115177767	+	Silent	SNP	C	C	T			TCGA-DU-7013-01A-11D-2024-08	TCGA-DU-7013-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0eb92a8-7607-4cfb-b2a5-a65aa707a4b7	e7a1b446-ae3d-4f8f-a976-fdaa7902e760	g.chr5:115177767C>T	ENST00000316788.7	+	1	590	c.33C>T	c.(31-33)caC>caT	p.H11H		NM_001284.2	NP_001275.1	Q92572	AP3S1_HUMAN	adaptor-related protein complex 3, sigma 1 subunit	11					insulin receptor signaling pathway|intracellular protein transport|vesicle-mediated transport	AP-type membrane coat adaptor complex|cytoplasmic vesicle membrane|Golgi apparatus|transport vesicle	protein binding|protein transporter activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|pancreas(1)|prostate(1)	12		all_cancers(142;0.00377)|all_epithelial(76;0.000129)|Prostate(80;0.0132)|Ovarian(225;0.0776)|Lung NSC(810;0.245)		OV - Ovarian serous cystadenocarcinoma(64;1.08e-07)|Epithelial(69;1.11e-06)|all cancers(49;5.2e-05)		TCAACAACCACGGGAAGCCGC	0.706													6	4					0	0	1	0	0	T	115177767	C	T	115177767	2	4	106	1	0	0	0	0	0	0	0	1	745	535	19	1		1	AP3S1	5	115177767	Silent	SNP	C	TCGA-DU-7013-01A-11D-2024-08	77813690	115177767	65737493	16	20352											
GUCA1B	2979	broad.mit.edu	37	6	42162502	42162502	+	Silent	SNP	C	C	T			TCGA-DU-7013-01A-11D-2024-08	TCGA-DU-7013-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0eb92a8-7607-4cfb-b2a5-a65aa707a4b7	e7a1b446-ae3d-4f8f-a976-fdaa7902e760	g.chr6:42162502C>T	ENST00000230361.3	-	1	152	c.57G>A	c.(55-57)gcG>gcA	p.A19A		NM_002098.5	NP_002089.4	Q9UMX6	GUC1B_HUMAN	guanylate cyclase activator 1B (retina)	19	EF-hand 1.				body fluid secretion|cell-cell signaling|receptor guanylyl cyclase signaling pathway|visual perception	plasma membrane	calcium ion binding|calcium sensitive guanylate cyclase activator activity			large_intestine(3)|lung(3)|skin(2)	8	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|Epithelial(12;0.00154)|STAD - Stomach adenocarcinoma(11;0.00177)			CCTGGAGCTCCGCCACATCTA	0.562													6	8					0	0	1	0	0	T	42162502	C	T	42162502	2	4	106	1	0	0	0	0	0	0	0	1	6930	639	23	1		1	GUCA1B	6	42162502	Silent	SNP	C	TCGA-DU-7013-01A-11D-2024-08		42162502	128952565	17	20353											
TAAR5	9038	broad.mit.edu	37	6	132910545	132910545	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7013-01A-11D-2024-08	TCGA-DU-7013-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0eb92a8-7607-4cfb-b2a5-a65aa707a4b7	e7a1b446-ae3d-4f8f-a976-fdaa7902e760	g.chr6:132910545C>T	ENST00000258034.2	-	1	332	c.281G>A	c.(280-282)cGc>cAc	p.R94H		NM_003967.2	NP_003958.2	O14804	TAAR5_HUMAN	trace amine associated receptor 5	94					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	32	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.00604)|GBM - Glioblastoma multiforme(226;0.015)		CTCCACTGAGCGAATGGTGCT	0.587													27	47					0	0	1	0	0	T	132910545	C	T	132910545	3	4	106	1	0	0	0	0	1	0	0	0	15548	768	27	1	736	1	TAAR5	6	132910545	Missense_Mutation	SNP	C	TCGA-DU-7013-01A-11D-2024-08	90748043	132910545	38204522	18	20354											
LUC7L2	51631	broad.mit.edu	37	7	139030301	139030301	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-7013-01A-11D-2024-08	TCGA-DU-7013-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0eb92a8-7607-4cfb-b2a5-a65aa707a4b7	e7a1b446-ae3d-4f8f-a976-fdaa7902e760	g.chr7:139030301A>C	ENST00000541515.3	+	2	218	c.193A>C	c.(193-195)Acc>Ccc	p.T65P	C7orf55_ENST00000297534.6_Missense_Mutation_p.T65P|C7orf55-LUC7L2_ENST00000541170.3_Intron|C7orf55_ENST00000481123.1_3'UTR	NM_001244584.2	NP_001231513.1	Q9Y383	LC7L2_HUMAN	LUC7-like 2 (S. cerevisiae)	0							enzyme binding|metal ion binding			NS(2)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1)	16	Melanoma(164;0.242)					CCAAGCTGCCACCTATCTCTG	0.512													59	63					0	0	1	0	0	C	139030301	A	C	139030301	3	2	106	1	0	0	0	0	1	0	0	0	9128	159	6	5		5	LUC7L2	7	139030301	Missense_Mutation	SNP	A	TCGA-DU-7013-01A-11D-2024-08		139030301	20108362	19	20355											
PLAG1	5324	broad.mit.edu	37	8	57079207	57079207	+	Silent	SNP	G	G	A			TCGA-DU-7013-01A-11D-2024-08	TCGA-DU-7013-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0eb92a8-7607-4cfb-b2a5-a65aa707a4b7	e7a1b446-ae3d-4f8f-a976-fdaa7902e760	g.chr8:57079207G>A	ENST00000316981.3	-	5	1577	c.1098C>T	c.(1096-1098)ggC>ggT	p.G366G	PLAG1_ENST00000423799.2_Silent_p.G284G|PLAG1_ENST00000429357.2_Silent_p.G366G	NM_001114634.1|NM_002655.2	NP_001108106.1|NP_002646.2	Q6DJT9	PLAG1_HUMAN	pleiomorphic adenoma gene 1	366	Activates transcription; Inhibition of nuclear import due to lack of NLS and KPNA2 interaction.|Repression domain; contains 3 sumoylation motifs and massively decrease transcription activity.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.G366G(2)	CTNNB1/PLAG1(60)|LIFR_ENST00000263409/PLAG1(10)|HAS2/PLAG1(10)|FGFR1_ENST00000447712/PLAG1(28)|COL1A2/PLAG1(3)|CHCHD7/PLAG1(12)|TCEA1_ENST00000521604/PLAG1(3)	breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125)	Epithelial(17;0.00179)|all cancers(17;0.0125)			AAGAGGGCACGCCACCTTGTA	0.458			T	"TCEA1, LIFR, CTNNB1, CHCHD7"	salivary adenoma								92	66					0	0	1	0	0	A	57079207	G	A	57079207	2	1	106	1	0	0	0	0	0	0	0	1	12066	1074	38	1		1	PLAG1	8	57079207	Silent	SNP	G	TCGA-DU-7013-01A-11D-2024-08		57079207	89284815	20	20356											
TLR4	7099	broad.mit.edu	37	9	120475558	120475558	+	Silent	SNP	C	C	A			TCGA-DU-7013-01A-11D-2024-08	TCGA-DU-7013-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0eb92a8-7607-4cfb-b2a5-a65aa707a4b7	e7a1b446-ae3d-4f8f-a976-fdaa7902e760	g.chr9:120475558C>A	ENST00000355622.6	+	3	1253	c.1152C>A	c.(1150-1152)ggC>ggA	p.G384G	TLR4_ENST00000394487.4_Silent_p.G344G|TLR4_ENST00000472304.1_3'UTR	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	384					activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						GTAGAAATGGCTTGAGTTTCA	0.383													19	30					1.96292e-10	2.11688e-10	1	1	0	A	120475558	C	A	120475558	2	1	106	1	0	0	0	0	0	0	0	1	16013	784	28	4		4	TLR4	9	120475558	Silent	SNP	C	TCGA-DU-7013-01A-11D-2024-08		120475558	20737873	21	20357											
SETX	23064	broad.mit.edu	37	9	135202372	135202372	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7013-01A-11D-2024-08	TCGA-DU-7013-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0eb92a8-7607-4cfb-b2a5-a65aa707a4b7	e7a1b446-ae3d-4f8f-a976-fdaa7902e760	g.chr9:135202372C>T	ENST00000372169.2	-	10	4795	c.4613G>A	c.(4612-4614)cGg>cAg	p.R1538Q	SETX_ENST00000224140.5_Missense_Mutation_p.R1538Q|SETX_ENST00000393220.1_Missense_Mutation_p.R1538Q			Q7Z333	SETX_HUMAN	senataxin	1538					cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		CAACTGAGGCCGACTTACAGA	0.368													23	28					0	0	1	0	0	T	135202372	C	T	135202372	3	4	106	1	0	0	0	0	1	0	0	0	14195	652	23	1	3488	1	SETX	9	135202372	Missense_Mutation	SNP	C	TCGA-DU-7013-01A-11D-2024-08	14726814	135202372	6011059	22	20358											
CYP2C19	1557	broad.mit.edu	37	10	96612622	96612622	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7013-01A-11D-2024-08	TCGA-DU-7013-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0eb92a8-7607-4cfb-b2a5-a65aa707a4b7	e7a1b446-ae3d-4f8f-a976-fdaa7902e760	g.chr10:96612622G>A	ENST00000371321.3	+	9	1506	c.1424G>A	c.(1423-1425)gGa>gAa	p.G475E	CYP2C19_ENST00000464755.1_3'UTR	NM_000769.1	NP_000760	P33261	CP2CJ_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 19	475					exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)	GTTGTCAATGGATTTGCTTCT	0.473													40	8					0	0	1	0	0	A	96612622	G	A	96612622	3	1	106	1	0	0	0	0	1	0	0	0	4189	1174	41	2	1458	2	CYP2C19	10	96612622	Missense_Mutation	SNP	G	TCGA-DU-7013-01A-11D-2024-08		96612622	38922125	23	20359											
OR9G1	390174	broad.mit.edu	37	11	56468437	56468437	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7013-01A-11D-2024-08	TCGA-DU-7013-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0eb92a8-7607-4cfb-b2a5-a65aa707a4b7	e7a1b446-ae3d-4f8f-a976-fdaa7902e760	g.chr11:56468437G>A	ENST00000312153.1	+	1	574	c.574G>A	c.(574-576)Ggc>Agc	p.G192S		NM_001005213.1	NP_001005213.1			olfactory receptor, family 9, subfamily G, member 1											breast(2)|kidney(1)|lung(25)|stomach(2)|upper_aerodigestive_tract(1)	31						TGGCGAGAAGGGCGGCTATAA	0.478													25	56					0	0	1	0	0	A	56468437	G	A	56468437	3	1	106	1	0	0	0	0	1	0	0	0	11297	1232	43	2	576	2	OR9G1	11	56468437	Missense_Mutation	SNP	G	TCGA-DU-7013-01A-11D-2024-08		56468437	78538079	24	20360											
KRT6B	3854	broad.mit.edu	37	12	52842747	52842747	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-7013-01A-11D-2024-08	TCGA-DU-7013-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0eb92a8-7607-4cfb-b2a5-a65aa707a4b7	e7a1b446-ae3d-4f8f-a976-fdaa7902e760	g.chr12:52842747T>C	ENST00000252252.3	-	6	1129	c.1082A>G	c.(1081-1083)gAg>gGg	p.E361G		NM_005555.3	NP_005546.2	P04259	K2C6B_HUMAN	keratin 6B	361	Coil 2.|Rod.				ectoderm development	keratin filament	structural constituent of cytoskeleton			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(19)|ovary(4)|prostate(2)	40				BRCA - Breast invasive adenocarcinoma(357;0.083)		CTGCAGCTCCTCGTACTGCAG	0.537													37	54					0	0	1	0	0	C	52842747	T	C	52842747	3	2	106	1	0	0	0	0	1	0	0	0	8524	1551	54	3	628	3	KRT6B	12	52842747	Missense_Mutation	SNP	T	TCGA-DU-7013-01A-11D-2024-08		52842747	81009148	25	20361											
NOS1	4842	broad.mit.edu	37	12	117723945	117723945	+	Silent	SNP	C	C	T			TCGA-DU-7013-01A-11D-2024-08	TCGA-DU-7013-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0eb92a8-7607-4cfb-b2a5-a65aa707a4b7	e7a1b446-ae3d-4f8f-a976-fdaa7902e760	g.chr12:117723945C>T	ENST00000317775.6	-	6	1939	c.1254G>A	c.(1252-1254)tcG>tcA	p.S418S	NOS1_ENST00000344089.3_3'UTR|NOS1_ENST00000338101.4_Silent_p.S418S	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN	nitric oxide synthase 1 (neuronal)	418					multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	CCACACAGCGCGAGGCATTCC	0.562													31	51					0	0	1	0	0	T	117723945	C	T	117723945	2	4	106	1	0	0	0	0	0	0	0	1	10588	755	27	1		1	NOS1	12	117723945	Silent	SNP	C	TCGA-DU-7013-01A-11D-2024-08	64881198	117723945	16127950	26	20362											
ZMYM2	7750	broad.mit.edu	37	13	20635254	20635254	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-7013-01A-11D-2024-08	TCGA-DU-7013-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0eb92a8-7607-4cfb-b2a5-a65aa707a4b7	e7a1b446-ae3d-4f8f-a976-fdaa7902e760	g.chr13:20635254T>C	ENST00000382869.3	+	17	3052	c.2801T>C	c.(2800-2802)aTt>aCt	p.I934T	ZMYM2_ENST00000382871.2_Missense_Mutation_p.I934T|ZMYM2_ENST00000382874.2_Missense_Mutation_p.I934T	NM_001190965.1|NM_003453.3|NM_197968.2	NP_001177894.1|NP_003444.1|NP_932072.1	Q9UBW7	ZMYM2_HUMAN	zinc finger, MYM-type 2	934					regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	ubiquitin conjugating enzyme binding|zinc ion binding			large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10		all_cancers(29;8.65e-21)|all_epithelial(30;1.04e-18)|all_lung(29;6.75e-18)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;0.000148)|Epithelial(112;0.000249)|OV - Ovarian serous cystadenocarcinoma(117;0.00816)|Lung(94;0.0173)|LUSC - Lung squamous cell carcinoma(192;0.0856)		CCTGCAGCAATTGAGGAGCTA	0.418													12	8					0	0	1	0	0	C	20635254	T	C	20635254	3	2	106	1	0	0	0	0	1	0	0	0	17758	1493	52	3	2859	3	ZMYM2	13	20635254	Missense_Mutation	SNP	T	TCGA-DU-7013-01A-11D-2024-08		20635254	94534624	27	20363											
MTMR6	9107	broad.mit.edu	37	13	25840284	25840284	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7013-01A-11D-2024-08	TCGA-DU-7013-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0eb92a8-7607-4cfb-b2a5-a65aa707a4b7	e7a1b446-ae3d-4f8f-a976-fdaa7902e760	g.chr13:25840284C>T	ENST00000381801.5	-	4	1206	c.445G>A	c.(445-447)Gcc>Acc	p.A149T	MTMR6_ENST00000540661.1_Missense_Mutation_p.A149T	NM_004685.3	NP_004676.3	Q9Y217	MTMR6_HUMAN	myotubularin related protein 6	149	Myotubularin phosphatase.					cytoplasm|nuclear envelope	calcium-activated potassium channel activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity			breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(5)|stomach(3)	36		Lung SC(185;0.0225)|Breast(139;0.0351)		all cancers(112;0.00927)|Epithelial(112;0.0474)|OV - Ovarian serous cystadenocarcinoma(117;0.164)		TCCCGGTTGGCATCAGACAAC	0.453													3	23					0	0	1	0	0	T	25840284	C	T	25840284	3	4	106	1	0	0	0	0	1	0	0	0	9995	710	25	2	1464	2	MTMR6	13	25840284	Missense_Mutation	SNP	C	TCGA-DU-7013-01A-11D-2024-08	5205030	25840284	89329594	28	20364											
MYH6	4624	broad.mit.edu	37	14	23855275	23855275	+	Silent	SNP	G	G	A			TCGA-DU-7013-01A-11D-2024-08	TCGA-DU-7013-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0eb92a8-7607-4cfb-b2a5-a65aa707a4b7	e7a1b446-ae3d-4f8f-a976-fdaa7902e760	g.chr14:23855275G>A	ENST00000405093.3	-	34	5095	c.5025C>T	c.(5023-5025)atC>atT	p.I1675I	MYH6_ENST00000356287.3_Silent_p.I1675I	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	1675					adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		GCCGCTCCACGATGGCGATGT	0.637													18	28					0	0	1	0	0	A	23855275	G	A	23855275	2	1	106	1	0	0	0	0	0	0	0	1	10086	1048	37	1		1	MYH6	14	23855275	Silent	SNP	G	TCGA-DU-7013-01A-11D-2024-08		23855275	83494265	29	20365											
MDGA2	161357	broad.mit.edu	37	14	47426601	47426601	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7013-01A-11D-2024-08	TCGA-DU-7013-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0eb92a8-7607-4cfb-b2a5-a65aa707a4b7	e7a1b446-ae3d-4f8f-a976-fdaa7902e760	g.chr14:47426601C>T	ENST00000426342.1	-	9	1917	c.1171G>A	c.(1171-1173)Ggg>Agg	p.G391R	MDGA2_ENST00000439988.3_Missense_Mutation_p.G689R|MDGA2_ENST00000399232.2_Missense_Mutation_p.G620R|MDGA2_ENST00000357362.3_Missense_Mutation_p.G391R	NM_182830.3	NP_878250.2	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	620	Ig-like 4.				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						CTGCATCTCCCAGCTCCAGCT	0.358													14	22					0	0	1	0	0	T	47426601	C	T	47426601	3	4	106	1	0	0	0	0	1	0	0	0	9457	594	21	2	1048	2	MDGA2	14	47426601	Missense_Mutation	SNP	C	TCGA-DU-7013-01A-11D-2024-08	23571326	47426601	59922939	30	20366											
SPTB	6710	broad.mit.edu	37	14	65258514	65258514	+	Silent	SNP	G	G	A			TCGA-DU-7013-01A-11D-2024-08	TCGA-DU-7013-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0eb92a8-7607-4cfb-b2a5-a65aa707a4b7	e7a1b446-ae3d-4f8f-a976-fdaa7902e760	g.chr14:65258514G>A	ENST00000389722.3	-	14	2780	c.2727C>T	c.(2725-2727)ctC>ctT	p.L909L	SPTB_ENST00000389721.5_Silent_p.L909L|SPTB_ENST00000389720.3_Silent_p.L909L|SPTB_ENST00000556626.1_Silent_p.L909L|SPTB_ENST00000542895.1_Silent_p.L909L	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	909					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		TGTTGGCAGCGAGGTTCACAC	0.557													19	21					0	0	1	0	0	A	65258514	G	A	65258514	2	1	106	1	0	0	0	0	0	0	0	1	15174	1045	37	1		1	SPTB	14	65258514	Silent	SNP	G	TCGA-DU-7013-01A-11D-2024-08	17831913	65258514	42091026	31	20367											
MSLNL	401827	broad.mit.edu	37	16	823215	823215	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-7013-01A-11D-2024-08	TCGA-DU-7013-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0eb92a8-7607-4cfb-b2a5-a65aa707a4b7	e7a1b446-ae3d-4f8f-a976-fdaa7902e760	g.chr16:823215A>G	ENST00000293892.3	-	10	2052	c.2053T>C	c.(2053-2055)Tgc>Cgc	p.C685R	MSLNL_ENST00000442466.1_Missense_Mutation_p.C334R			Q96KJ4	MSLNL_HUMAN	mesothelin-like	334					cell adhesion	integral to membrane				breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	36						CTGAGGATGCAGCCATCCAGG	0.632													24	32					0	0	1	0	0	G	823215	A	G	823215	3	3	106	1	0	0	0	0	1	0	0	0	9930	188	7	3	1136	3	MSLNL	16	823215	Missense_Mutation	SNP	A	TCGA-DU-7013-01A-11D-2024-08		823215	89531538	32	20368											
CASKIN1	57524	broad.mit.edu	37	16	2230409	2230409	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7013-01A-11D-2024-08	TCGA-DU-7013-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0eb92a8-7607-4cfb-b2a5-a65aa707a4b7	e7a1b446-ae3d-4f8f-a976-fdaa7902e760	g.chr16:2230409C>T	ENST00000343516.6	-	18	3052	c.2960G>A	c.(2959-2961)aGt>aAt	p.S987N		NM_020764.3	NP_065815.1	Q8WXD9	CSKI1_HUMAN	CASK interacting protein 1	987	Pro-rich.				signal transduction	cytoplasm				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|liver(1)|lung(7)|ovary(4)|prostate(5)|skin(3)	28						GGCCAGGTCACTGGCCCGCCG	0.716													6	6					0	0	1	0	0	T	2230409	C	T	2230409	3	4	106	1	0	0	0	0	1	0	0	0	2684	565	20	2	1347	2	CASKIN1	16	2230409	Missense_Mutation	SNP	C	TCGA-DU-7013-01A-11D-2024-08	1407194	2230409	88124344	33	20369											
CCNF	899	broad.mit.edu	37	16	2499351	2499351	+	Missense_Mutation	SNP	C	C	A	rs151164394		TCGA-DU-7013-01A-11D-2024-08	TCGA-DU-7013-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0eb92a8-7607-4cfb-b2a5-a65aa707a4b7	e7a1b446-ae3d-4f8f-a976-fdaa7902e760	g.chr16:2499351C>A	ENST00000397066.4	+	12	1375	c.1287C>A	c.(1285-1287)caC>caA	p.H429Q		NM_001761.2	NP_001752.2	P41002	CCNF_HUMAN	cyclin F	429					cell division|mitosis|negative regulation of centrosome duplication|protein ubiquitination|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	centriole|nucleus|SCF ubiquitin ligase complex	protein binding			breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(2)|lung(5)|prostate(4)|skin(1)	20		Ovarian(90;0.17)				GAACCCAGCACCTGTGCAGCT	0.662													13	20					0.00010058	0.000102442	1	1	0	A	2499351	C	A	2499351	3	1	106	1	0	0	0	0	1	0	0	0	2944	506	18	5	1333	5	CCNF	16	2499351	Missense_Mutation	SNP	C	TCGA-DU-7013-01A-11D-2024-08	268942	2499351	87855402	34	20370											
AIPL1	23746	broad.mit.edu	37	17	6329143	6329143	+	Silent	SNP	C	C	T			TCGA-DU-7013-01A-11D-2024-08	TCGA-DU-7013-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0eb92a8-7607-4cfb-b2a5-a65aa707a4b7	e7a1b446-ae3d-4f8f-a976-fdaa7902e760	g.chr17:6329143C>T	ENST00000381129.3	-	6	872	c.792G>A	c.(790-792)gtG>gtA	p.V264V	AIPL1_ENST00000574506.1_Silent_p.V252V|AIPL1_ENST00000576776.1_Silent_p.V240V|AIPL1_ENST00000570466.1_Silent_p.V242V|AIPL1_ENST00000575265.1_3'UTR|AIPL1_ENST00000250087.5_Silent_p.V201V|AIPL1_ENST00000576307.1_Silent_p.V204V	NM_001033055.1|NM_014336.3	NP_001028227.1|NP_055151.3	Q9NZN9	AIPL1_HUMAN	aryl hydrocarbon receptor interacting protein-like 1	264					protein farnesylation|protein folding|visual perception	cytoplasm|nucleus	farnesylated protein binding|unfolded protein binding			NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|skin(1)	12				COAD - Colon adenocarcinoma(228;0.141)		AGTAGGCCTTCACGATGCCTG	0.657													21	4					0	0	1	0	0	T	6329143	C	T	6329143	2	4	106	1	0	0	0	0	0	0	0	1	433	813	29	2		2	AIPL1	17	6329143	Silent	SNP	C	TCGA-DU-7013-01A-11D-2024-08		6329143	74866067	35	20371											
TP53	7157	broad.mit.edu	37	17	7578203	7578203	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7013-01A-11D-2024-08	TCGA-DU-7013-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0eb92a8-7607-4cfb-b2a5-a65aa707a4b7	e7a1b446-ae3d-4f8f-a976-fdaa7902e760	g.chr17:7578203C>T	ENST00000420246.2	-	6	778	c.646G>A	c.(646-648)Gtg>Atg	p.V216M	TP53_ENST00000269305.4_Missense_Mutation_p.V216M|TP53_ENST00000359597.4_Missense_Mutation_p.V216M|TP53_ENST00000445888.2_Missense_Mutation_p.V216M|TP53_ENST00000455263.2_Missense_Mutation_p.V216M|TP53_ENST00000413465.2_Missense_Mutation_p.V216M|TP53_ENST00000574684.1_Intron	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	216	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		V -> A (in sporadic cancers; somatic mutation).|V -> E (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).|V -> M (in sporadic cancers; somatic mutation).|V -> W (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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.V216M(61)|p.V216del(8)|p.0?(8)|p.V216L(7)|p.?(5)|p.V84M(3)|p.V123M(3)|p.V216fs*6(2)|p.H214fs*5(2)|p.V216fs*32(1)|p.V216fs*33(1)|p.S215fs*27(1)|p.S215fs*29(1)|p.V216fs*5(1)|p.V216_Y220delVVVPY(1)|p.D208_V216delDRNTFRHSV(1)|p.D208fs*1(1)|p.S215fs*31(1)|p.S215_V216insX(1)|p.T211fs*28(1)|p.D207_V216del10(1)|p.S215_V218>R(1)|p.S215_V218>M(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)		GGCACCACCACACTATGTCGA	0.537		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)			27	2					0	0	1	0	0	T	7578203	C	T	7578203	3	4	106	1	0	0	0	0	1	0	0	0	16442	478	17	2	648	2	TP53	17	7578203	Missense_Mutation	SNP	C	TCGA-DU-7013-01A-11D-2024-08	1249060	7578203	73617007	36	20372											
SLC16A3	9123	broad.mit.edu	37	17	80195561	80195561	+	Silent	SNP	C	C	T			TCGA-DU-7013-01A-11D-2024-08	TCGA-DU-7013-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0eb92a8-7607-4cfb-b2a5-a65aa707a4b7	e7a1b446-ae3d-4f8f-a976-fdaa7902e760	g.chr17:80195561C>T	ENST00000581287.1	+	3	3237	c.915C>T	c.(913-915)aaC>aaT	p.N305N	SLC16A3_ENST00000392339.1_Silent_p.N305N|SLC16A3_ENST00000392341.1_Silent_p.N305N|SLC16A3_ENST00000582743.1_Silent_p.N305N	NM_001206951.1|NM_001206952.1	NP_001193880.1|NP_001193881.1	O15427	MOT4_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 3	305					blood coagulation|leukocyte migration|organic anion transport|pyruvate metabolic process	actin cytoskeleton|integral to plasma membrane|membrane fraction|nuclear membrane	secondary active monocarboxylate transmembrane transporter activity|symporter activity			endometrium(2)|kidney(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9	Breast(20;0.00285)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.227)		OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0149)		Pyruvic acid(DB00119)	TGTTCTTCAACGGCCTCGCGG	0.652													29	65					0	0	1	0	0	T	80195561	C	T	80195561	2	4	106	1	0	0	0	0	0	0	0	1	14464	535	19	1		1	SLC16A3	17	80195561	Silent	SNP	C	TCGA-DU-7013-01A-11D-2024-08	72617358	80195561	999649	37	20373											
POLR2E	5434	broad.mit.edu	37	19	1090943	1090943	+	Silent	SNP	C	C	T			TCGA-DU-7013-01A-11D-2024-08	TCGA-DU-7013-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0eb92a8-7607-4cfb-b2a5-a65aa707a4b7	e7a1b446-ae3d-4f8f-a976-fdaa7902e760	g.chr19:1090943C>T	ENST00000215587.7	-	4	676	c.393G>A	c.(391-393)ctG>ctA	p.L131L	POLR2E_ENST00000586746.1_Silent_p.L131L|POLR2E_ENST00000585838.1_5'UTR			P19388	RPAB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide E, 25kDa	131					interspecies interaction between organisms|mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase II promoter|transcription elongation from RNA polymerase III promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|skin(2)	11		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)		GCTCCTGCTGCAGAAACTGCT	0.667													14	33					0	0	1	0	0	T	1090943	C	T	1090943	2	4	106	1	0	0	0	0	0	0	0	1	12266	697	25	2		2	POLR2E	19	1090943	Silent	SNP	C	TCGA-DU-7013-01A-11D-2024-08		1090943	58038040	38	20374											
NLRP9	338321	broad.mit.edu	37	19	56244772	56244772	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7013-01A-11D-2024-08	TCGA-DU-7013-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0eb92a8-7607-4cfb-b2a5-a65aa707a4b7	e7a1b446-ae3d-4f8f-a976-fdaa7902e760	g.chr19:56244772G>A	ENST00000332836.2	-	2	452	c.425C>T	c.(424-426)gCg>gTg	p.A142V		NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	142						cytoplasm	ATP binding			NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		TCGTCTAGCCGCAGCAGTATA	0.433													36	52					0	0	1	0	0	A	56244772	G	A	56244772	3	1	106	1	0	0	0	0	1	0	0	0	10531	1087	38	1	2582	1	NLRP9	19	56244772	Missense_Mutation	SNP	G	TCGA-DU-7013-01A-11D-2024-08	55153829	56244772	2884211	39	20375											
R3HDML	140902	broad.mit.edu	37	20	42979326	42979326	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-7013-01A-11D-2024-08	TCGA-DU-7013-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0eb92a8-7607-4cfb-b2a5-a65aa707a4b7	e7a1b446-ae3d-4f8f-a976-fdaa7902e760	g.chr20:42979326A>G	ENST00000217043.2	+	5	828	c.656A>G	c.(655-657)tAc>tGc	p.Y219C	RP5-881L22.5_ENST00000438702.1_RNA	NM_178491.2	NP_848586.1	Q9H3Y0	CRSPL_HUMAN	R3H domain containing-like	219						extracellular region	peptidase inhibitor activity			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)	21		Myeloproliferative disorder(115;0.028)	COAD - Colon adenocarcinoma(18;0.00189)			GAGTCCCCGTACAAGATGGGA	0.532													33	39					0	0	1	0	0	G	42979326	A	G	42979326	3	3	106	1	0	0	0	0	1	0	0	0	12941	391	14	3	674	3	R3HDML	20	42979326	Missense_Mutation	SNP	A	TCGA-DU-7013-01A-11D-2024-08		42979326	20046194	40	20376											
HMCN1	83872	broad.mit.edu	37	1	186105910	186105910	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7015-01A-11D-2024-08	TCGA-DU-7015-10B-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a50aaa7-8539-4a6a-83a3-92dc92614388	9eb0f222-3de6-4ad6-b286-4c12998c1536	g.chr1:186105910C>T	ENST00000271588.4	+	87	13652	c.13423C>T	c.(13423-13425)Cgt>Tgt	p.R4475C	HMCN1_ENST00000367492.2_Missense_Mutation_p.R4475C	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	4475	Ig-like C2-type 44.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TACATGGTCCCGTCAAGGGCA	0.428													66	55					0	0	1	0	0	T	186105910	C	T	186105910	3	4	107	1	0	0	0	0	1	0	0	0	7261	652	23	1	13769	1	HMCN1	1	186105910	Missense_Mutation	SNP	C	TCGA-DU-7015-01A-11D-2024-08		186105910	63144711	1	20377											
ACBD3	64746	broad.mit.edu	37	1	226349374	226349374	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-7015-01A-11D-2024-08	TCGA-DU-7015-10B-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a50aaa7-8539-4a6a-83a3-92dc92614388	9eb0f222-3de6-4ad6-b286-4c12998c1536	g.chr1:226349374G>A	ENST00000366812.5	-	4	640	c.586C>T	c.(586-588)Cga>Tga	p.R196*		NM_022735.3	NP_073572.2	Q9H3P7	GCP60_HUMAN	acyl-CoA binding domain containing 3	196	Arg-rich.|Glu-rich.				steroid biosynthetic process|transport	Golgi membrane|integral to membrane|mitochondrion	fatty-acyl-CoA binding|protein binding			breast(2)|endometrium(3)|large_intestine(5)|lung(7)|skin(1)|urinary_tract(2)	20	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.121)		cgccgccttcgctcctcttcc	0.458													14	11					0	0	1	0	0	A	226349374	G	A	226349374	4	1	107	1	0	0	0	0	0	1	0	0	123	1095	38	1	1020	1	ACBD3	1	226349374	Nonsense_Mutation	SNP	G	TCGA-DU-7015-01A-11D-2024-08	40243464	226349374	22901247	2	20378											
ZAP70	7535	broad.mit.edu	37	2	98354504	98354504	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7015-01A-11D-2024-08	TCGA-DU-7015-10B-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a50aaa7-8539-4a6a-83a3-92dc92614388	9eb0f222-3de6-4ad6-b286-4c12998c1536	g.chr2:98354504G>A	ENST00000264972.5	+	13	1885	c.1670G>A	c.(1669-1671)cGg>cAg	p.R557Q	ZAP70_ENST00000442208.1_Missense_Mutation_p.R431Q|ZAP70_ENST00000451498.2_Missense_Mutation_p.R250Q|ZAP70_ENST00000463643.1_3'UTR	NM_001079.3	NP_001070.2	P43403	ZAP70_HUMAN	zeta-chain (TCR) associated protein kinase 70kDa	557	Protein kinase.				immune response|intracellular protein kinase cascade|positive thymic T cell selection|T cell receptor signaling pathway	cytosol|T cell receptor complex	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	29						CAGGGCAAGCGGATGGAGTGC	0.607													3	4					0	0	1	0	0	A	98354504	G	A	98354504	3	1	107	1	0	0	0	0	1	0	0	0	17574	1116	39	1	1712	1	ZAP70	2	98354504	Missense_Mutation	SNP	G	TCGA-DU-7015-01A-11D-2024-08		98354504	144844869	3	20379											
ACVR1C	130399	broad.mit.edu	37	2	158443697	158443697	+	Splice_Site	SNP	A	A	G			TCGA-DU-7015-01A-11D-2024-08	TCGA-DU-7015-10B-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a50aaa7-8539-4a6a-83a3-92dc92614388	9eb0f222-3de6-4ad6-b286-4c12998c1536	g.chr2:158443697A>G	ENST00000243349.8	-	2	665		c.e2+1		ACVR1C_ENST00000335450.7_Splice_Site|ACVR1C_ENST00000409680.3_Splice_Site|ACVR1C_ENST00000348328.5_Splice_Site	NM_001111032.1|NM_145259.2	NP_001104502.1|NP_660302.2	Q8NER5	ACV1C_HUMAN	activin A receptor, type IC						apoptosis|cell differentiation|regulation of apoptosis	activin receptor complex	activin receptor activity, type I|ATP binding|transforming growth factor beta receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	42						TAAACCCCTTACCTGTTGGAA	0.348													8	112					0	0	1	0	0	G	158443697	A	G	158443697	5	3	107	1	0	0	0	0	0	0	1	0	221	405	14	3	1207	3	ACVR1C	2	158443697	Splice_Site	SNP	A	TCGA-DU-7015-01A-11D-2024-08	60089193	158443697	84755676	4	20380											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-DU-7015-01A-11D-2024-08	TCGA-DU-7015-10B-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a50aaa7-8539-4a6a-83a3-92dc92614388	9eb0f222-3de6-4ad6-b286-4c12998c1536	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	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								23	41					0	0	1	0	0	T	209113112	C	T	209113112	3	4	107	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-DU-7015-01A-11D-2024-08	50669415	209113112	34086261	5	20381											
DBR1	51163	broad.mit.edu	37	3	137882319	137882319	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-7015-01A-11D-2024-08	TCGA-DU-7015-10B-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a50aaa7-8539-4a6a-83a3-92dc92614388	9eb0f222-3de6-4ad6-b286-4c12998c1536	g.chr3:137882319A>C	ENST00000260803.4	-	7	966	c.813T>G	c.(811-813)caT>caG	p.H271Q	DBR1_ENST00000505015.2_Missense_Mutation_p.H37Q	NM_016216.3	NP_057300.2	Q9UK59	DBR1_HUMAN	debranching RNA lariats 1	271						nucleus	metal ion binding|RNA lariat debranching enzyme activity			NS(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						CACTGGGGTCATGTTCTATCT	0.323													4	45					0	0	1	0	0	C	137882319	A	C	137882319	3	2	107	1	0	0	0	0	1	0	0	0	4281	214	8	4	829	4	DBR1	3	137882319	Missense_Mutation	SNP	A	TCGA-DU-7015-01A-11D-2024-08		137882319	60140111	6	20382											
B3GNT5	84002	broad.mit.edu	37	3	182987919	182987919	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-7015-01A-11D-2024-08	TCGA-DU-7015-10B-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a50aaa7-8539-4a6a-83a3-92dc92614388	9eb0f222-3de6-4ad6-b286-4c12998c1536	g.chr3:182987919G>A	ENST00000326505.3	+	2	863	c.333G>A	c.(331-333)tgG>tgA	p.W111*	MCF2L2_ENST00000447025.2_Intron|B3GNT5_ENST00000460419.1_Nonsense_Mutation_p.W111*|MCF2L2_ENST00000473233.1_Intron|MCF2L2_ENST00000328913.3_Intron|B3GNT5_ENST00000465010.1_Nonsense_Mutation_p.W111*	NM_032047.4	NP_114436.1	Q9BYG0	B3GN5_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 5	111					central nervous system development|glycolipid biosynthetic process|protein glycosylation	Golgi membrane|integral to membrane	beta-galactosyl-N-acetylglucosaminylgalactosylglucosyl-ceramide beta-1,3-acetylglucosaminyltransferase activity|galactosyltransferase activity			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	8	all_cancers(143;8.52e-13)|Ovarian(172;0.0355)		all cancers(12;4.52e-44)|Epithelial(37;8.82e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			GAAGGACGTGGGGCAATGAAA	0.428													26	64					0	0	1	0	0	A	182987919	G	A	182987919	4	1	107	1	0	0	0	0	0	1	0	0	1258	1241	43	2	335	2	B3GNT5	3	182987919	Nonsense_Mutation	SNP	G	TCGA-DU-7015-01A-11D-2024-08	45105600	182987919	15034511	7	20383											
PRKAA1	5562	broad.mit.edu	37	5	40765101	40765101	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7015-01A-11D-2024-08	TCGA-DU-7015-10B-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a50aaa7-8539-4a6a-83a3-92dc92614388	9eb0f222-3de6-4ad6-b286-4c12998c1536	g.chr5:40765101G>A	ENST00000397128.2	-	7	1069	c.1061C>T	c.(1060-1062)gCg>gTg	p.A354V	PRKAA1_ENST00000354209.3_Missense_Mutation_p.A369V	NM_006251.5|NM_206907.3	NP_006242.5|NP_996790.3	Q13131	AAPK1_HUMAN	protein kinase, AMP-activated, alpha 1 catalytic subunit	354					activation of MAPK activity|cell cycle arrest|cholesterol biosynthetic process|fatty acid biosynthetic process|insulin receptor signaling pathway|negative regulation of glucosylceramide biosynthetic process|positive regulation of anti-apoptosis|positive regulation of cholesterol biosynthetic process|regulation of fatty acid oxidation|response to hypoxia	cytosol	ATP binding|cAMP-dependent protein kinase activity|metal ion binding|protein binding			breast(1)	1					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Phenformin(DB00914)	TGGGCTTGTCGCCAAATAGAA	0.438													6	58					0	0	1	0	0	A	40765101	G	A	40765101	3	1	107	1	0	0	0	0	1	0	0	0	12545	1087	38	1	630	1	PRKAA1	5	40765101	Missense_Mutation	SNP	G	TCGA-DU-7015-01A-11D-2024-08		40765101	140150159	8	20384											
GRIA1	2890	broad.mit.edu	37	5	153026583	153026583	+	Missense_Mutation	SNP	G	G	A	rs138238382		TCGA-DU-7015-01A-11D-2024-08	TCGA-DU-7015-10B-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a50aaa7-8539-4a6a-83a3-92dc92614388	9eb0f222-3de6-4ad6-b286-4c12998c1536	g.chr5:153026583G>A	ENST00000285900.5	+	3	659	c.316G>A	c.(316-318)Gtc>Atc	p.V106I	GRIA1_ENST00000448073.4_Missense_Mutation_p.V116I|GRIA1_ENST00000340592.5_Missense_Mutation_p.V106I|GRIA1_ENST00000518783.1_Missense_Mutation_p.V116I|GRIA1_ENST00000518862.1_3'UTR|GRIA1_ENST00000521843.2_Missense_Mutation_p.V37I|GRIA1_ENST00000518142.1_Intron	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	106					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	GGCCCTCCACGTCTGCTTCAT	0.502													13	107					0	0	1	0	0	A	153026583	G	A	153026583	3	1	107	1	0	0	0	0	1	0	0	0	6808	1145	40	1	326	1	GRIA1	5	153026583	Missense_Mutation	SNP	G	TCGA-DU-7015-01A-11D-2024-08	112261482	153026583	27888677	9	20385											
COL12A1	1303	broad.mit.edu	37	6	75834890	75834890	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-7015-01A-11D-2024-08	TCGA-DU-7015-10B-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a50aaa7-8539-4a6a-83a3-92dc92614388	9eb0f222-3de6-4ad6-b286-4c12998c1536	g.chr6:75834890T>C	ENST00000322507.8	-	40	6869	c.6560A>G	c.(6559-6561)cAa>cGa	p.Q2187R	COL12A1_ENST00000416123.2_Missense_Mutation_p.Q2187R|COL12A1_ENST00000345356.6_Missense_Mutation_p.Q1023R|COL12A1_ENST00000483888.2_Missense_Mutation_p.Q2187R	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	2187	Fibronectin type-III 17.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						AGAATCATATTGAGCATAAAC	0.413													19	28					0	0	1	0	0	C	75834890	T	C	75834890	3	2	107	1	0	0	0	0	1	0	0	0	3692	1812	63	3	2739	3	COL12A1	6	75834890	Missense_Mutation	SNP	T	TCGA-DU-7015-01A-11D-2024-08		75834890	95280177	10	20386											
SYBU	55638	broad.mit.edu	37	8	110655043	110655043	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7015-01A-11D-2024-08	TCGA-DU-7015-10B-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a50aaa7-8539-4a6a-83a3-92dc92614388	9eb0f222-3de6-4ad6-b286-4c12998c1536	g.chr8:110655043G>A	ENST00000399066.3	-	1	861	c.134C>T	c.(133-135)cCt>cTt	p.P45L	SYBU_ENST00000528647.1_Missense_Mutation_p.P47L|SYBU_ENST00000419099.1_Missense_Mutation_p.P47L|SYBU_ENST00000446070.2_Missense_Mutation_p.P47L|SYBU_ENST00000533171.1_Missense_Mutation_p.P48L|SYBU_ENST00000433638.1_Missense_Mutation_p.P48L|SYBU_ENST00000276646.9_Missense_Mutation_p.P48L|SYBU_ENST00000408908.2_Missense_Mutation_p.P48L|SYBU_ENST00000528331.1_Intron|SYBU_ENST00000533895.1_Missense_Mutation_p.P47L|SYBU_ENST00000424158.2_Missense_Mutation_p.P53L|SYBU_ENST00000422135.1_Missense_Mutation_p.P48L|SYBU_ENST00000533065.1_Intron|SYBU_ENST00000532779.1_Intron|SYBU_ENST00000440310.1_Missense_Mutation_p.P48L|SYBU_ENST00000408889.3_Intron	NM_001099756.1	NP_001093226.1	Q9NX95	SYBU_HUMAN	syntabulin (syntaxin-interacting)	48	Ser-rich.|Sufficient for interaction with KIF5B.					cytoplasmic membrane-bounded vesicle|cytoskeleton|Golgi membrane|integral to membrane				NS(1)|breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	30						CTCAGAGAAAGGAGACTCAGA	0.552													5	88					0	0	1	0	0	A	110655043	G	A	110655043	3	1	107	1	0	0	0	0	1	0	0	0	15483	1000	35	2	1872	2	SYBU	8	110655043	Missense_Mutation	SNP	G	TCGA-DU-7015-01A-11D-2024-08		110655043	35708979	11	20387	105	2									
SYBU	55638	broad.mit.edu	37	8	110655044	110655044	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7015-01A-11D-2024-08	TCGA-DU-7015-10B-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a50aaa7-8539-4a6a-83a3-92dc92614388	9eb0f222-3de6-4ad6-b286-4c12998c1536	g.chr8:110655044G>A	ENST00000399066.3	-	1	860	c.133C>T	c.(133-135)Cct>Tct	p.P45S	SYBU_ENST00000528647.1_Missense_Mutation_p.P47S|SYBU_ENST00000419099.1_Missense_Mutation_p.P47S|SYBU_ENST00000446070.2_Missense_Mutation_p.P47S|SYBU_ENST00000533171.1_Missense_Mutation_p.P48S|SYBU_ENST00000433638.1_Missense_Mutation_p.P48S|SYBU_ENST00000276646.9_Missense_Mutation_p.P48S|SYBU_ENST00000408908.2_Missense_Mutation_p.P48S|SYBU_ENST00000528331.1_Intron|SYBU_ENST00000533895.1_Missense_Mutation_p.P47S|SYBU_ENST00000424158.2_Missense_Mutation_p.P53S|SYBU_ENST00000422135.1_Missense_Mutation_p.P48S|SYBU_ENST00000533065.1_Intron|SYBU_ENST00000532779.1_Intron|SYBU_ENST00000440310.1_Missense_Mutation_p.P48S|SYBU_ENST00000408889.3_Intron	NM_001099756.1	NP_001093226.1	Q9NX95	SYBU_HUMAN	syntabulin (syntaxin-interacting)	48	Ser-rich.|Sufficient for interaction with KIF5B.					cytoplasmic membrane-bounded vesicle|cytoskeleton|Golgi membrane|integral to membrane				NS(1)|breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	30						TCAGAGAAAGGAGACTCAGAG	0.552													5	89					0	0	1	0	0	A	110655044	G	A	110655044	3	1	107	1	0	0	0	0	1	0	0	0	15483	1174	41	2	1873	2	SYBU	8	110655044	Missense_Mutation	SNP	G	TCGA-DU-7015-01A-11D-2024-08	1	110655044	35708978	12	20388	105	2									
CSMD3	114788	broad.mit.edu	37	8	113277704	113277704	+	Silent	SNP	A	A	G			TCGA-DU-7015-01A-11D-2024-08	TCGA-DU-7015-10B-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a50aaa7-8539-4a6a-83a3-92dc92614388	9eb0f222-3de6-4ad6-b286-4c12998c1536	g.chr8:113277704A>G	ENST00000297405.5	-	60	9868	c.9624T>C	c.(9622-9624)aaT>aaC	p.N3208N	CSMD3_ENST00000455883.2_Silent_p.N3039N|CSMD3_ENST00000343508.3_Silent_p.N3168N|CSMD3_ENST00000352409.3_Silent_p.N3138N	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3208	Sushi 24.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TTCTGGAGCCATTCAATTCCA	0.403										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			9	113					0	0	1	0	0	G	113277704	A	G	113277704	2	3	107	1	0	0	0	0	0	0	0	1	3971	214	8	3		3	CSMD3	8	113277704	Silent	SNP	A	TCGA-DU-7015-01A-11D-2024-08	2622660	113277704	33086318	13	20389											
TG	7038	broad.mit.edu	37	8	133961128	133961128	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-7015-01A-11D-2024-08	TCGA-DU-7015-10B-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a50aaa7-8539-4a6a-83a3-92dc92614388	9eb0f222-3de6-4ad6-b286-4c12998c1536	g.chr8:133961128A>T	ENST00000220616.4	+	27	5381	c.5341A>T	c.(5341-5343)Aca>Tca	p.T1781S	TG_ENST00000542445.1_Missense_Mutation_p.T151S|TG_ENST00000377869.1_Missense_Mutation_p.T1724S	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1781					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		TCCTGGTGTGACATATGACCA	0.468													24	173					0	0	1	0	0	T	133961128	A	T	133961128	3	4	107	1	0	0	0	0	1	0	0	0	15873	275	10	5	5447	5	TG	8	133961128	Missense_Mutation	SNP	A	TCGA-DU-7015-01A-11D-2024-08	20683424	133961128	12402894	14	20390											
MASTL	84930	broad.mit.edu	37	10	27459597	27459597	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-7015-01A-11D-2024-08	TCGA-DU-7015-10B-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a50aaa7-8539-4a6a-83a3-92dc92614388	9eb0f222-3de6-4ad6-b286-4c12998c1536	g.chr10:27459597A>G	ENST00000375946.4	+	8	2312	c.1709A>G	c.(1708-1710)gAt>gGt	p.D570G	MASTL_ENST00000342386.6_Missense_Mutation_p.D570G|MASTL_ENST00000477034.1_3'UTR|MASTL_ENST00000375940.4_Missense_Mutation_p.D570G	NM_001172303.1|NM_032844.3	NP_001165774.1|NP_116233.2	Q96GX5	GWL_HUMAN	microtubule associated serine/threonine kinase-like	570	Protein kinase.				cell division|G2/M transition of mitotic cell cycle|mitosis|negative regulation of protein phosphatase type 2A activity|regulation of cell cycle|response to DNA damage stimulus	centrosome|cleavage furrow|nucleus	ATP binding|protein phosphatase 2A binding|protein serine/threonine kinase activity			breast(3)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						ATGAACTCTGATTCATCTTTT	0.323													4	67					0	0	1	0	0	G	27459597	A	G	27459597	3	3	107	1	0	0	0	0	1	0	0	0	9378	333	12	3	1739	3	MASTL	10	27459597	Missense_Mutation	SNP	A	TCGA-DU-7015-01A-11D-2024-08		27459597	108075150	15	20391											
PNLIPRP2	5408	broad.mit.edu	37	10	118396277	118396277	+	RNA	DEL	G	G	-	rs148140777	by1000genomes	TCGA-DU-7015-01A-11D-2024-08	TCGA-DU-7015-10B-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a50aaa7-8539-4a6a-83a3-92dc92614388	9eb0f222-3de6-4ad6-b286-4c12998c1536	g.chr10:118396277delG	ENST00000537242.1	+	0	962				PNLIPRP2_ENST00000433618.4_RNA|PNLIPRP2_ENST00000298771.7_RNA	NM_005396.4	NP_005387.2	P54317	LIPR2_HUMAN	pancreatic lipase-related protein 2						galactolipid catabolic process|lipid digestion|phospholipid catabolic process|triglyceride metabolic process	extracellular space	acylglycerol lipase activity|calcium ion binding|galactolipase activity|phospholipase activity|triglyceride lipase activity			endometrium(1)|large_intestine(1)|lung(11)|prostate(3)	16				all cancers(201;0.015)		GACAAATTATGGTTTTTTTTT	0.423													4	7	---	---	---	---						-	118396277	G	-	118396277	6	5	107	0	1	1	0	1	0	0	0	0	12199	1363	47	0		0	PNLIPRP2	10	118396277	RNA	DEL	G	TCGA-DU-7015-01A-11D-2024-08	90936680	118396277	17138470	16	20392											
PHRF1	57661	broad.mit.edu	37	11	608555	608555	+	Silent	SNP	G	G	A			TCGA-DU-7015-01A-11D-2024-08	TCGA-DU-7015-10B-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a50aaa7-8539-4a6a-83a3-92dc92614388	9eb0f222-3de6-4ad6-b286-4c12998c1536	g.chr11:608555G>A	ENST00000264555.5	+	14	3227	c.3099G>A	c.(3097-3099)gcG>gcA	p.A1033A	PHRF1_ENST00000416188.2_Silent_p.A1032A|PHRF1_ENST00000533464.1_Silent_p.A1029A|PHRF1_ENST00000413872.2_Silent_p.A1031A	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	1033	Arg-rich.						RNA polymerase binding|zinc ion binding			breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						CGAGGTCAGCGTCACCATCAG	0.662													8	18					0	0	1	0	0	A	608555	G	A	608555	2	1	107	1	0	0	0	0	0	0	0	1	11909	1132	40	1		1	PHRF1	11	608555	Silent	SNP	G	TCGA-DU-7015-01A-11D-2024-08		608555	134397961	17	20393											
OR52D1	390066	broad.mit.edu	37	11	5510502	5510502	+	Missense_Mutation	SNP	G	G	C	rs74379370	by1000genomes	TCGA-DU-7015-01A-11D-2024-08	TCGA-DU-7015-10B-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a50aaa7-8539-4a6a-83a3-92dc92614388	9eb0f222-3de6-4ad6-b286-4c12998c1536	g.chr11:5510502G>C	ENST00000322641.5	+	1	588	c.566G>C	c.(565-567)cGa>cCa	p.R189P	AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron	NM_001005163.2	NP_001005163.1	Q9H346	O52D1_HUMAN	olfactory receptor, family 52, subfamily D, member 1	189					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.46e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGCATTGCCCGACTGGCCTGT	0.522													78	86					0	0	1	0	0	C	5510502	G	C	5510502	3	2	107	1	0	0	0	0	1	0	0	0	11162	1058	37	5	568	5	OR52D1	11	5510502	Missense_Mutation	SNP	G	TCGA-DU-7015-01A-11D-2024-08	4901947	5510502	129496014	18	20394											
SLC17A6	57084	broad.mit.edu	37	11	22363146	22363146	+	Silent	SNP	C	C	T			TCGA-DU-7015-01A-11D-2024-08	TCGA-DU-7015-10B-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a50aaa7-8539-4a6a-83a3-92dc92614388	9eb0f222-3de6-4ad6-b286-4c12998c1536	g.chr11:22363146C>T	ENST00000263160.3	+	2	596	c.159C>T	c.(157-159)ccC>ccT	p.P53P		NM_020346.2	NP_065079.1	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 6	53					sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						TAGAGGTGCCCGAGAGGAAGG	0.642													4	37					0	0	1	0	0	T	22363146	C	T	22363146	2	4	107	1	0	0	0	0	0	0	0	1	14476	639	23	1		1	SLC17A6	11	22363146	Silent	SNP	C	TCGA-DU-7015-01A-11D-2024-08	16852644	22363146	112643370	19	20395											
CHST1	8534	broad.mit.edu	37	11	45671624	45671624	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-7015-01A-11D-2024-08	TCGA-DU-7015-10B-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a50aaa7-8539-4a6a-83a3-92dc92614388	9eb0f222-3de6-4ad6-b286-4c12998c1536	g.chr11:45671624A>G	ENST00000308064.2	-	4	1520	c.850T>C	c.(850-852)Tcc>Ccc	p.S284P		NM_003654.5	NP_003645.1	O43916	CHST1_HUMAN	carbohydrate (keratan sulfate Gal-6) sulfotransferase 1	284					galactose metabolic process|inflammatory response|keratan sulfate metabolic process	Golgi membrane|integral to membrane	keratan sulfotransferase activity			breast(1)|endometrium(3)|large_intestine(10)|lung(17)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781)		AGGCCGGTGGACACGGAGTTG	0.622													7	61					0	0	1	0	0	G	45671624	A	G	45671624	3	3	107	1	0	0	0	0	1	0	0	0	3419	275	10	3	389	3	CHST1	11	45671624	Missense_Mutation	SNP	A	TCGA-DU-7015-01A-11D-2024-08	23308478	45671624	89334892	20	20396											
OR5B21	219968	broad.mit.edu	37	11	58275443	58275443	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-7015-01A-11D-2024-08	TCGA-DU-7015-10B-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a50aaa7-8539-4a6a-83a3-92dc92614388	9eb0f222-3de6-4ad6-b286-4c12998c1536	g.chr11:58275443T>C	ENST00000360374.2	-	1	135	c.136A>G	c.(136-138)Atc>Gtc	p.I46V		NM_001005218.1	NP_001005218.1	A6NL26	OR5BL_HUMAN	olfactory receptor, family 5, subfamily B, member 21	46					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				GAGTGGATGATCACCATCATT	0.478													7	67					0	0	1	0	0	C	58275443	T	C	58275443	3	2	107	1	0	0	0	0	1	0	0	0	11198	1435	50	3	795	3	OR5B21	11	58275443	Missense_Mutation	SNP	T	TCGA-DU-7015-01A-11D-2024-08	12603819	58275443	76731073	21	20397											
GNPTAB	79158	broad.mit.edu	37	12	102142925	102142925	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-7015-01A-11D-2024-08	TCGA-DU-7015-10B-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a50aaa7-8539-4a6a-83a3-92dc92614388	9eb0f222-3de6-4ad6-b286-4c12998c1536	g.chr12:102142925A>G	ENST00000299314.7	-	20	3909	c.3647T>C	c.(3646-3648)cTa>cCa	p.L1216P		NM_024312.4	NP_077288.2	Q3T906	GNPTA_HUMAN	N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits	1216					cell differentiation	Golgi membrane|integral to membrane|nucleus	metal ion binding|transcription factor binding|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	37						CAATGTTGCTAGTACACAATG	0.338													34	97					0	0	1	0	0	G	102142925	A	G	102142925	3	3	107	1	0	0	0	0	1	0	0	0	6587	420	15	3	131	3	GNPTAB	12	102142925	Missense_Mutation	SNP	A	TCGA-DU-7015-01A-11D-2024-08		102142925	31708970	22	20398											
NKX2-1	7080	broad.mit.edu	37	14	36987039	36987039	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7015-01A-11D-2024-08	TCGA-DU-7015-10B-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a50aaa7-8539-4a6a-83a3-92dc92614388	9eb0f222-3de6-4ad6-b286-4c12998c1536	g.chr14:36987039G>A	ENST00000518149.1	-	3	1165	c.560C>T	c.(559-561)tCg>tTg	p.S187L	RP11-896J10.3_ENST00000521945.1_RNA|NKX2-1_ENST00000522719.2_Missense_Mutation_p.S187L|NKX2-1_ENST00000498187.2_Missense_Mutation_p.S187L|NKX2-1_ENST00000354822.5_Missense_Mutation_p.S217L			P43699	NKX21_HUMAN	NK2 homeobox 1	187					epithelial tube branching involved in lung morphogenesis|globus pallidus development|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|thyroid gland development		protein binding|transcription regulatory region DNA binding			large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(2)	7	all_cancers(3;4.47e-51)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)|Breast(36;0.165)		Lung(8;1.8e-08)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.014)|all cancers(34;0.0366)|LUSC - Lung squamous cell carcinoma(13;0.132)	GBM - Glioblastoma multiforme(112;0.0171)		CTCCGGCGCCGACAGGTACTT	0.657			A		NSCLC								3	16					0	0	1	0	0	A	36987039	G	A	36987039	3	1	107	1	0	0	0	0	1	0	0	0	10496	1059	37	1	559	1	NKX2-1	14	36987039	Missense_Mutation	SNP	G	TCGA-DU-7015-01A-11D-2024-08		36987039	70362501	23	20399											
TP53	7157	broad.mit.edu	37	17	7578265	7578265	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-7015-01A-11D-2024-08	TCGA-DU-7015-10B-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a50aaa7-8539-4a6a-83a3-92dc92614388	9eb0f222-3de6-4ad6-b286-4c12998c1536	g.chr17:7578265A>G	ENST00000420246.2	-	6	716	c.584T>C	c.(583-585)aTc>aCc	p.I195T	TP53_ENST00000269305.4_Missense_Mutation_p.I195T|TP53_ENST00000445888.2_Missense_Mutation_p.I195T|TP53_ENST00000413465.2_Missense_Mutation_p.I195T|TP53_ENST00000455263.2_Missense_Mutation_p.I195T|TP53_ENST00000359597.4_Missense_Mutation_p.I195T|TP53_ENST00000574684.1_Intron	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	195	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		I -> F (in sporadic cancers; somatic mutation).|I -> L (in a sporadic cancer; somatic mutation).|I -> N (in sporadic cancers; somatic mutation).|I -> S (in sporadic cancers; somatic mutation).|I -> T (in sporadic cancers; somatic mutation).|I -> V (in a sporadic cancer; somatic mutation).|I -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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.I195T(69)|p.I195N(12)|p.I195S(10)|p.0?(8)|p.I195fs*14(5)|p.?(5)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.I102S(2)|p.I102T(2)|p.I63T(2)|p.I63S(2)|p.P191fs*6(1)|p.H193_I195delHLI(1)|p.P59_E66>Q(1)|p.I102fs*14(1)|p.I195fs*12(1)|p.I195fs*50(1)|p.I195_G199delIRVEG(1)|p.P98_E105>Q(1)|p.I63fs*14(1)|p.H193_I195>AP(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)		TTCCACTCGGATAAGATGCTG	0.552		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)			33	9					0	0	1	0	0	G	7578265	A	G	7578265	3	3	107	1	0	0	0	0	1	0	0	0	16442	333	12	3	710	3	TP53	17	7578265	Missense_Mutation	SNP	A	TCGA-DU-7015-01A-11D-2024-08		7578265	73616945	24	20400											
MYH4	4622	broad.mit.edu	37	17	10351193	10351193	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-7015-01A-11D-2024-08	TCGA-DU-7015-10B-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a50aaa7-8539-4a6a-83a3-92dc92614388	9eb0f222-3de6-4ad6-b286-4c12998c1536	g.chr17:10351193G>T	ENST00000255381.2	-	34	5017	c.4907C>A	c.(4906-4908)gCc>gAc	p.A1636D	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1636					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						CTGGCGGTTGGCATGGTTCAG	0.453													78	127					1.25742e-37	1.28257e-37	1	1	0	T	10351193	G	T	10351193	3	4	107	1	0	0	0	0	1	0	0	0	10085	1203	42	5	940	5	MYH4	17	10351193	Missense_Mutation	SNP	G	TCGA-DU-7015-01A-11D-2024-08	2772928	10351193	70844017	25	20401											
ALDH3A1	218	broad.mit.edu	37	17	19641635	19641635	+	Splice_Site	SNP	C	C	T			TCGA-DU-7015-01A-11D-2024-08	TCGA-DU-7015-10B-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a50aaa7-8539-4a6a-83a3-92dc92614388	9eb0f222-3de6-4ad6-b286-4c12998c1536	g.chr17:19641635C>T	ENST00000457500.2	-	9	1677		c.e9+1		ALDH3A1_ENST00000444455.1_Splice_Site|ALDH3A1_ENST00000225740.6_Splice_Site|ALDH3A1_ENST00000395555.3_Splice_Site|RP11-311F12.2_ENST00000580884.1_RNA|ALDH3A1_ENST00000494157.2_Splice_Site	NM_001135168.1	NP_001128640.1	P30838	AL3A1_HUMAN	aldehyde dehydrogenase 3 family, member A1						cellular aldehyde metabolic process	cytosol|endoplasmic reticulum	alcohol dehydrogenase (NADP+) activity|aldehyde dehydrogenase|aldehyde dehydrogenase (NAD) activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|urinary_tract(1)	13	all_cancers(12;4.01e-05)|all_epithelial(12;0.00301)|Breast(13;0.186)			Colorectal(15;0.0829)	NADH(DB00157)	CCCCCTCTCACCTTGGCCGGG	0.632													4	61					0	0	1	0	0	T	19641635	C	T	19641635	5	4	107	1	0	0	0	0	0	0	1	0	494	521	18	2	21	2	ALDH3A1	17	19641635	Splice_Site	SNP	C	TCGA-DU-7015-01A-11D-2024-08	9290442	19641635	61553575	26	20402											
C3	718	broad.mit.edu	37	19	6707865	6707865	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7015-01A-11D-2024-08	TCGA-DU-7015-10B-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a50aaa7-8539-4a6a-83a3-92dc92614388	9eb0f222-3de6-4ad6-b286-4c12998c1536	g.chr19:6707865C>T	ENST00000245907.6	-	15	2013	c.1921G>A	c.(1921-1923)Gac>Aac	p.D641N		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	641					complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		AGCCCTGCGTCGGAGAAGACA	0.682													21	38					0	0	1	0	0	T	6707865	C	T	6707865	3	4	107	1	0	0	0	0	1	0	0	0	2218	884	31	1	3178	1	C3	19	6707865	Missense_Mutation	SNP	C	TCGA-DU-7015-01A-11D-2024-08		6707865	52421118	27	20403											
PDCD2L	84306	broad.mit.edu	37	19	34900075	34900075	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-7015-01A-11D-2024-08	TCGA-DU-7015-10B-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a50aaa7-8539-4a6a-83a3-92dc92614388	9eb0f222-3de6-4ad6-b286-4c12998c1536	g.chr19:34900075A>G	ENST00000246535.3	+	4	393	c.346A>G	c.(346-348)Aac>Gac	p.N116D	PDCD2L_ENST00000587065.2_Intron|RP11-618P17.4_ENST00000606020.1_Missense_Mutation_p.N111D	NM_032346.1	NP_115722.1	Q9BRP1	PDD2L_HUMAN	programmed cell death 2-like	116						cytoplasm				breast(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)			GAAACAGGGAAACAGCCTTGC	0.522													30	53					0	0	1	0	0	G	34900075	A	G	34900075	3	3	107	1	0	0	0	0	1	0	0	0	11667	14	1	3	360	3	PDCD2L	19	34900075	Missense_Mutation	SNP	A	TCGA-DU-7015-01A-11D-2024-08	28192210	34900075	24228908	28	20404											
ADNP	23394	broad.mit.edu	37	20	49508437	49508437	+	Silent	SNP	A	A	G			TCGA-DU-7015-01A-11D-2024-08	TCGA-DU-7015-10B-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a50aaa7-8539-4a6a-83a3-92dc92614388	9eb0f222-3de6-4ad6-b286-4c12998c1536	g.chr20:49508437A>G	ENST00000396029.3	-	5	3381	c.2814T>C	c.(2812-2814)acT>acC	p.T938T	ADNP_ENST00000371602.4_Silent_p.T938T|ADNP_ENST00000396032.3_Silent_p.T938T|ADNP_ENST00000349014.3_Silent_p.T938T	NM_001282531.1|NM_015339.2	NP_001269460.1|NP_056154.1	Q9H2P0	ADNP_HUMAN	activity-dependent neuroprotector homeobox	938						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(4)|endometrium(7)|kidney(1)|large_intestine(13)|lung(7)|ovary(2)|prostate(2)|skin(2)	39						TCAAATGAATAGTTTCGTATT	0.423													13	165					0	0	1	0	0	G	49508437	A	G	49508437	2	3	107	1	0	0	0	0	0	0	0	1	322	407	15	3		3	ADNP	20	49508437	Silent	SNP	A	TCGA-DU-7015-01A-11D-2024-08		49508437	13517083	29	20405											
TXNRD2	10587	broad.mit.edu	37	22	19929320	19929321	+	Frame_Shift_Del	DEL	CC	CC	-			TCGA-DU-7015-01A-11D-2024-08	TCGA-DU-7015-10B-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a50aaa7-8539-4a6a-83a3-92dc92614388	9eb0f222-3de6-4ad6-b286-4c12998c1536	g.chr22:19929320_19929321delCC	ENST00000535882.1	-	1	5_6	c.6_7delGG	c.(4-9)gcggcafs	p.AA2fs	COMT_ENST00000403184.1_5'UTR|COMT_ENST00000407537.1_5'UTR|TXNRD2_ENST00000334363.9_Frame_Shift_Del_p.AA2fs|TXNRD2_ENST00000400521.1_Frame_Shift_Del_p.AA2fs|COMT_ENST00000361682.6_5'UTR|TXNRD2_ENST00000400519.1_Frame_Shift_Del_p.AA2fs|COMT_ENST00000403710.1_5'UTR			Q9NNW7	TRXR2_HUMAN	thioredoxin reductase 2	2					cell redox homeostasis|response to oxygen radical	mitochondrion	flavin adenine dinucleotide binding|NADP binding|thioredoxin-disulfide reductase activity			breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|urinary_tract(2)	30	Colorectal(54;0.0993)					ACCGCCATTGCCGCCATCGTCG	0.797													2	4	---	---	---	---						-	19929321	CC	-	19929320	7	5	107	1	0	1	0	1	0	0	0	0	16870	739	26	0	1635	0	TXNRD2	22	19929320	Frame_Shift_Del	DEL	CC	TCGA-DU-7015-01A-11D-2024-08		19929320	31375246	30	20406											
WWC3	55841	broad.mit.edu	37	X	10085416	10085416	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-7015-01A-11D-2024-08	TCGA-DU-7015-10B-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a50aaa7-8539-4a6a-83a3-92dc92614388	9eb0f222-3de6-4ad6-b286-4c12998c1536	g.chrX:10085416G>T	ENST00000380861.4	+	11	1708	c.1317G>T	c.(1315-1317)caG>caT	p.Q439H	WWC3_ENST00000454666.1_Missense_Mutation_p.Q439H	NM_015691.3	NP_056506.2	Q9ULE0	WWC3_HUMAN	WWC family member 3	439	Ser-rich.									NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						TCCACAAGCAGAGGCGGTCCC	0.672													12	32					7.03913e-09	7.03913e-09	1	1	0	T	10085416	G	T	10085416	3	4	107	1	0	0	0	0	1	0	0	0	17473	933	33	4	1355	4	WWC3	23	10085416	Missense_Mutation	SNP	G	TCGA-DU-7015-01A-11D-2024-08		10085416	145185144	31	20407											
EDA	1896	broad.mit.edu	37	X	68836453	68836453	+	Missense_Mutation	SNP	C	C	T	rs41539891		TCGA-DU-7015-01A-11D-2024-08	TCGA-DU-7015-10B-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a50aaa7-8539-4a6a-83a3-92dc92614388	9eb0f222-3de6-4ad6-b286-4c12998c1536	g.chrX:68836453C>T	ENST00000374552.4	+	1	543	c.301C>T	c.(301-303)Ccc>Tcc	p.P101S	EDA_ENST00000524573.1_Missense_Mutation_p.P101S|EDA_ENST00000527388.1_Missense_Mutation_p.P101S|EDA_ENST00000374553.2_Missense_Mutation_p.P101S|EDA_ENST00000525810.1_Missense_Mutation_p.P101S|EDA_ENST00000338901.3_Missense_Mutation_p.P101S|EDA_ENST00000502251.1_3'UTR	NM_001399.4	NP_001390.1	Q92838	EDA_HUMAN	ectodysplasin A	101					cell differentiation|ectoderm development|immune response|positive regulation of NF-kappaB transcription factor activity|signal transduction	collagen|cytoskeleton|membrane fraction	tumor necrosis factor receptor binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|urinary_tract(1)	14						CCCTGACAGCCCCATCACCAG	0.677													26	9					0	0	1	0	0	T	68836453	C	T	68836453	3	4	107	1	0	0	0	0	1	0	0	0	4929	623	22	2	303	2	EDA	23	68836453	Missense_Mutation	SNP	C	TCGA-DU-7015-01A-11D-2024-08	58751037	68836453	86434107	32	20408											
ATRX	546	broad.mit.edu	37	X	76939957	76939957	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DU-7015-01A-11D-2024-08	TCGA-DU-7015-10B-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a50aaa7-8539-4a6a-83a3-92dc92614388	9eb0f222-3de6-4ad6-b286-4c12998c1536	g.chrX:76939957delT	ENST00000373344.5	-	9	1005	c.791delA	c.(790-792)tatfs	p.Y264fs	ATRX_ENST00000395603.3_Frame_Shift_Del_p.Y226fs|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	264	ADD.				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)	AATGTAGCAATACCATTGGTT	0.398			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						121	58	---	---	---	---						-	76939957	T	-	76939957	7	5	107	1	0	1	0	1	0	0	0	0	1206	1406	49	0	6795	0	ATRX	23	76939957	Frame_Shift_Del	DEL	T	TCGA-DU-7015-01A-11D-2024-08	8103504	76939957	78330603	33	20409											
GPBP1L1	60313	broad.mit.edu	37	1	46120875	46120875	+	Silent	SNP	T	T	C			TCGA-DU-7018-01A-11D-2024-08	TCGA-DU-7018-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29c55a80-cd55-4297-b433-00d0e2b1e08d	453998d9-d9f9-479d-86c0-d889a58b836d	g.chr1:46120875T>C	ENST00000355105.3	-	5	1537	c.177A>G	c.(175-177)ctA>ctG	p.L59L	GPBP1L1_ENST00000290795.3_Silent_p.L59L	NM_021639.4	NP_067652.1	Q9HC44	GPBL1_HUMAN	GC-rich promoter binding protein 1-like 1	59					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding		GPBP1L1/MAST2_ENST00000361297(2)	breast(1)|endometrium(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|stomach(1)	21	Acute lymphoblastic leukemia(166;0.155)					CTGCAGTTCGTAGGGGACCAT	0.453													13	57					0	0	0.020292	0	0	C	46120875	T	C	46120875	2	2	108	1	0	0	0	0	0	0	0	1	6636	1625	57	3		3	GPBP1L1	1	46120875	Silent	SNP	T	TCGA-DU-7018-01A-11D-2024-08		46120875	203129746	1	20410											
SOAT1	6646	broad.mit.edu	37	1	179320474	179320474	+	Silent	SNP	T	T	C			TCGA-DU-7018-01A-11D-2024-08	TCGA-DU-7018-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29c55a80-cd55-4297-b433-00d0e2b1e08d	453998d9-d9f9-479d-86c0-d889a58b836d	g.chr1:179320474T>C	ENST00000367619.3	+	15	1616	c.1473T>C	c.(1471-1473)aaT>aaC	p.N491N	SOAT1_ENST00000535686.1_Silent_p.N227N|SOAT1_ENST00000540564.1_Silent_p.N433N|SOAT1_ENST00000539888.1_Silent_p.N426N	NM_003101.5	NP_003092.4	P35610	SOAT1_HUMAN	sterol O-acyltransferase 1	491					cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|cholesterol storage|macrophage derived foam cell differentiation|positive regulation of amyloid precursor protein biosynthetic process|very-low-density lipoprotein particle assembly	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol binding|cholesterol O-acyltransferase activity|fatty-acyl-CoA binding			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|stomach(1)	20					Ezetimibe(DB00973)|Hesperetin(DB01094)	TCATTGTCAATGATAGTCGGA	0.408													19	183					0	0	0.062417	0	0	C	179320474	T	C	179320474	2	2	108	1	0	0	0	0	0	0	0	1	14964	1461	51	3		3	SOAT1	1	179320474	Silent	SNP	T	TCGA-DU-7018-01A-11D-2024-08	133199599	179320474	69930147	2	20411											
KRTCAP3	200634	broad.mit.edu	37	2	27666916	27666916	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-7018-01A-11D-2024-08	TCGA-DU-7018-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29c55a80-cd55-4297-b433-00d0e2b1e08d	453998d9-d9f9-479d-86c0-d889a58b836d	g.chr2:27666916G>A	ENST00000543753.1	+	6	763	c.716G>A	c.(715-717)tGg>tAg	p.W239*	KRTCAP3_ENST00000288873.3_Nonsense_Mutation_p.W239*|KRTCAP3_ENST00000407293.1_Nonsense_Mutation_p.W221*	NM_001168364.1	NP_001161836.1	Q53RY4	KCP3_HUMAN	keratinocyte associated protein 3	239						integral to membrane				large_intestine(1)|lung(2)	3	Acute lymphoblastic leukemia(172;0.155)					CAGAGAAGTTGGGTTTAGGAC	0.483													4	21					0	0	0.009096	0	0	A	27666916	G	A	27666916	4	1	108	1	0	0	0	0	0	1	0	0	8618	1357	47	2	738	2	KRTCAP3	2	27666916	Nonsense_Mutation	SNP	G	TCGA-DU-7018-01A-11D-2024-08		27666916	215532457	3	20412											
SMYD1	150572	broad.mit.edu	37	2	88393054	88393054	+	Silent	SNP	C	C	G			TCGA-DU-7018-01A-11D-2024-08	TCGA-DU-7018-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29c55a80-cd55-4297-b433-00d0e2b1e08d	453998d9-d9f9-479d-86c0-d889a58b836d	g.chr2:88393054C>G	ENST00000419482.2	+	5	763	c.678C>G	c.(676-678)tcC>tcG	p.S226S	SMYD1_ENST00000438570.1_Intron|SMYD1_ENST00000444564.2_Intron	NM_198274.3	NP_938015.1	Q8NB12	SMYD1_HUMAN	SET and MYND domain containing 1	226	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	41						CAGTGAAATCCATGTTTCATA	0.493													14	69					0	0	0.0333	0	0	G	88393054	C	G	88393054	2	3	108	1	0	0	0	0	0	0	0	1	14875	581	21	5		5	SMYD1	2	88393054	Silent	SNP	C	TCGA-DU-7018-01A-11D-2024-08	60726138	88393054	154806319	4	20413											
ITPRIPL1	150771	broad.mit.edu	37	2	96993753	96993753	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7018-01A-11D-2024-08	TCGA-DU-7018-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29c55a80-cd55-4297-b433-00d0e2b1e08d	453998d9-d9f9-479d-86c0-d889a58b836d	g.chr2:96993753C>T	ENST00000361124.4	+	1	1819	c.1408C>T	c.(1408-1410)Ctc>Ttc	p.L470F	ITPRIPL1_ENST00000542887.1_Missense_Mutation_p.L454F|ITPRIPL1_ENST00000439118.2_Missense_Mutation_p.L462F|ITPRIPL1_ENST00000536814.1_Missense_Mutation_p.L454F	NM_178495.5	NP_848590.3	Q6GPH6	IPIL1_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein-like 1	462						integral to membrane				breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						ACGGCTGCCCCTCACGGACTG	0.567													17	83					0	0	0.028581	0	0	T	96993753	C	T	96993753	3	4	108	1	0	0	0	0	1	0	0	0	7968	681	24	2	1424	2	ITPRIPL1	2	96993753	Missense_Mutation	SNP	C	TCGA-DU-7018-01A-11D-2024-08	8600699	96993753	146205620	5	20414											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-DU-7018-01A-11D-2024-08	TCGA-DU-7018-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29c55a80-cd55-4297-b433-00d0e2b1e08d	453998d9-d9f9-479d-86c0-d889a58b836d	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								41	44					0	0	0.045515	0	0	T	209113112	C	T	209113112	3	4	108	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-DU-7018-01A-11D-2024-08	112119359	209113112	34086261	6	20415											
SMARCAL1	50485	broad.mit.edu	37	2	217279430	217279430	+	Translation_Start_Site	SNP	G	G	A			TCGA-DU-7018-01A-11D-2024-08	TCGA-DU-7018-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29c55a80-cd55-4297-b433-00d0e2b1e08d	453998d9-d9f9-479d-86c0-d889a58b836d	g.chr2:217279430G>A	ENST00000357276.4	+	3	333	c.3G>A	c.(1-3)atG>atA	p.M1I	SMARCAL1_ENST00000358207.5_Start_Codon_SNP_p.M1I	NM_014140.3	NP_054859.2	Q9NZC9	SMAL1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1	1					chromatin modification|DNA metabolic process|regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(15)|ovary(3)|prostate(1)|skin(1)	42		Renal(323;0.0458)		Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111)		CTGTGAAAATGTCCTTGCCTC	0.413									Schimke Immuno-Osseous Dysplasia				10	55					0	0	0.058154	0	0	A	217279430	G	A	217279430	1	1	108	1	0	0	0	0	0	0	0	0	14827	1377	48	2		2	SMARCAL1	2	217279430	Translation_Start_Site	SNP	G	TCGA-DU-7018-01A-11D-2024-08	8166318	217279430	25919943	7	20416											
RUFY4	285180	broad.mit.edu	37	2	218954072	218954072	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7018-01A-11D-2024-08	TCGA-DU-7018-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29c55a80-cd55-4297-b433-00d0e2b1e08d	453998d9-d9f9-479d-86c0-d889a58b836d	g.chr2:218954072C>T	ENST00000374155.3	+	11	2070	c.1660C>T	c.(1660-1662)Cgg>Tgg	p.R554W	RUFY4_ENST00000344321.7_Missense_Mutation_p.R534W|RUFY4_ENST00000441828.2_3'UTR			Q6ZNE9	RUFY4_HUMAN	RUN and FYVE domain containing 4	534							metal ion binding			endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(1)	10		Renal(207;0.0915)		Epithelial(149;4.11e-06)|all cancers(144;0.000519)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		ATTTTCTCGGCGGTATCCATG	0.602													6	28					0	0	0.021553	0	0	T	218954072	C	T	218954072	3	4	108	1	0	0	0	0	1	0	0	0	13793	759	27	1	1638	1	RUFY4	2	218954072	Missense_Mutation	SNP	C	TCGA-DU-7018-01A-11D-2024-08	1674642	218954072	24245301	8	20417											
PIK3CA	5290	broad.mit.edu	37	3	178936082	178936082	+	Missense_Mutation	SNP	G	G	A	rs121913273		TCGA-DU-7018-01A-11D-2024-08	TCGA-DU-7018-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29c55a80-cd55-4297-b433-00d0e2b1e08d	453998d9-d9f9-479d-86c0-d889a58b836d	g.chr3:178936082G>A	ENST00000263967.3	+	10	1781	c.1624G>A	c.(1624-1626)Gaa>Aaa	p.E542K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	542	PI3K helical.		E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation).|E -> Q (in cancer).|E -> V (in cancer).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E542K(545)|p.E542Q(10)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TCCTCTCTCTGAAATCACTGA	0.333	E542K(BT483_BREAST)|E542K(CAL51_BREAST)|E542K(HGC27_STOMACH)|E542K(IM95_STOMACH)|E542K(JHUEM1_ENDOMETRIUM)|E542K(NCIH1341_LUNG)|E542K(SW948_LARGE_INTESTINE)|E542K(T84_LARGE_INTESTINE)|E542K(VMCUB1_URINARY_TRACT)	57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			6	39					0	0	0.02938	0	0	A	178936082	G	A	178936082	3	1	108	1	0	0	0	0	1	0	0	0	11961	1291	45	2	1658	2	PIK3CA	3	178936082	Missense_Mutation	SNP	G	TCGA-DU-7018-01A-11D-2024-08		178936082	19086348	9	20418											
DAB2	1601	broad.mit.edu	37	5	39381673	39381673	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7018-01A-11D-2024-08	TCGA-DU-7018-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29c55a80-cd55-4297-b433-00d0e2b1e08d	453998d9-d9f9-479d-86c0-d889a58b836d	g.chr5:39381673C>T	ENST00000320816.6	-	11	1854	c.1387G>A	c.(1387-1389)Gtc>Atc	p.V463I	DAB2_ENST00000339788.6_Missense_Mutation_p.V245I|DAB2_ENST00000509337.1_Missense_Mutation_p.V442I|DAB2_ENST00000545653.1_Missense_Mutation_p.V442I	NM_001343.3	NP_001334.2	P98082	DAB2_HUMAN	Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila)	463					cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway	clathrin coated vesicle membrane|coated pit	protein C-terminus binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	47	all_lung(31;0.000197)		Epithelial(62;0.137)			GGTTCTGAGACGGGAGGAGCA	0.542													21	98					0	0	0.069288	0	0	T	39381673	C	T	39381673	3	4	108	1	0	0	0	0	1	0	0	0	4242	536	19	1	941	1	DAB2	5	39381673	Missense_Mutation	SNP	C	TCGA-DU-7018-01A-11D-2024-08		39381673	141533587	10	20419											
RNF180	285671	broad.mit.edu	37	5	63509839	63509840	+	Frame_Shift_Del	DEL	AT	AT	-	rs146938584	byFrequency	TCGA-DU-7018-01A-11D-2024-08	TCGA-DU-7018-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29c55a80-cd55-4297-b433-00d0e2b1e08d	453998d9-d9f9-479d-86c0-d889a58b836d	g.chr5:63509839_63509840delAT	ENST00000389100.4	+	4	758_759	c.686_687delAT	c.(685-687)catfs	p.H229fs	RNF180_ENST00000381081.2_Intron|RNF180_ENST00000296615.6_Frame_Shift_Del_p.H229fs	NM_001113561.1	NP_001107033.1	Q86T96	RN180_HUMAN	ring finger protein 180	229						integral to membrane|nuclear envelope	zinc ion binding			breast(1)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	20		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0848)|Colorectal(97;0.234)		Lung(70;0.114)		AGAAAATCACATAGTTTGGATC	0.386													19	115	---	---	---	---						-	63509840	AT	-	63509839	7	5	108	1	0	1	0	1	0	0	0	0	13516	217	8	0	696	0	RNF180	5	63509839	Frame_Shift_Del	DEL	AT	TCGA-DU-7018-01A-11D-2024-08	24128166	63509839	117405421	11	20420											
SNCAIP	9627	broad.mit.edu	37	5	121786734	121786734	+	Missense_Mutation	SNP	G	G	A	rs146515227	by1000genomes	TCGA-DU-7018-01A-11D-2024-08	TCGA-DU-7018-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29c55a80-cd55-4297-b433-00d0e2b1e08d	453998d9-d9f9-479d-86c0-d889a58b836d	g.chr5:121786734G>A	ENST00000261367.7	+	12	3761	c.2333G>A	c.(2332-2334)cGc>cAc	p.R778H	CTC-210G5.1_ENST00000505546.1_RNA|CTC-210G5.1_ENST00000506053.1_RNA|SNCAIP_ENST00000379533.2_Missense_Mutation_p.R778H|SNCAIP_ENST00000504884.2_3'UTR|CTC-210G5.1_ENST00000510972.1_RNA|SNCAIP_ENST00000542191.1_Missense_Mutation_p.R289H|CTC-210G5.1_ENST00000509993.1_RNA|SNCAIP_ENST00000503116.2_3'UTR|SNCAIP_ENST00000379538.3_Missense_Mutation_p.R365H|SNCAIP_ENST00000414317.2_Missense_Mutation_p.R333H|SNCAIP_ENST00000379536.2_Missense_Mutation_p.R671H|SNCAIP_ENST00000261368.8_Missense_Mutation_p.R731H|CTC-210G5.1_ENST00000503529.1_RNA			Q9Y6H5	SNCAP_HUMAN	synuclein, alpha interacting protein	731					cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding			NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		TCAGGGGGACGCAGGTTTCCT	0.542													5	62					0	0	0.014758	0	0	A	121786734	G	A	121786734	3	1	108	1	0	0	0	0	1	0	0	0	14895	1087	38	1	2226	1	SNCAIP	5	121786734	Missense_Mutation	SNP	G	TCGA-DU-7018-01A-11D-2024-08	58276895	121786734	59128526	12	20421											
IL9	3578	broad.mit.edu	37	5	135231431	135231431	+	Silent	SNP	C	C	T			TCGA-DU-7018-01A-11D-2024-08	TCGA-DU-7018-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29c55a80-cd55-4297-b433-00d0e2b1e08d	453998d9-d9f9-479d-86c0-d889a58b836d	g.chr5:135231431C>T	ENST00000274520.1	-	1	85	c.75G>A	c.(73-75)gcG>gcA	p.A25A		NM_000590.1	NP_000581.1	P15248	IL9_HUMAN	interleukin 9	25					immune response|inflammatory response|positive regulation of cell proliferation|positive regulation of interleukin-5 biosynthetic process	extracellular space	cytokine activity|cytokine receptor binding|growth factor activity			large_intestine(3)|lung(2)|pancreas(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CCAGGATCCCCGCCAAGGTTG	0.567													6	80					0	0	0.021553	0	0	T	135231431	C	T	135231431	2	4	108	1	0	0	0	0	0	0	0	1	7751	639	23	1		1	IL9	5	135231431	Silent	SNP	C	TCGA-DU-7018-01A-11D-2024-08	13444697	135231431	45683829	13	20422											
PCDHGA11	56105	broad.mit.edu	37	5	140801469	140801469	+	Silent	SNP	C	C	T			TCGA-DU-7018-01A-11D-2024-08	TCGA-DU-7018-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29c55a80-cd55-4297-b433-00d0e2b1e08d	453998d9-d9f9-479d-86c0-d889a58b836d	g.chr5:140801469C>T	ENST00000398587.2	+	1	708	c.675C>T	c.(673-675)ggC>ggT	p.G225G	PCDHGB7_ENST00000398594.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA11_ENST00000518882.1_Silent_p.G225G|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB4_ENST00000519479.1_Intron	NM_018914.2|NM_032092.1	NP_061737.1|NP_114481.1												p.G225G(1)		breast(3)|endometrium(8)|kidney(3)|large_intestine(9)|lung(22)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCGAAAGGGCGCAGTTCCCA	0.527													5	66					0	0	0.014758	0	0	T	140801469	C	T	140801469	2	4	108	1	0	0	0	0	0	0	0	1	11599	755	27	1		1	PCDHGA11	5	140801469	Silent	SNP	C	TCGA-DU-7018-01A-11D-2024-08	5570038	140801469	40113791	14	20423											
RBM22	55696	broad.mit.edu	37	5	150073655	150073655	+	Silent	SNP	C	C	T			TCGA-DU-7018-01A-11D-2024-08	TCGA-DU-7018-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29c55a80-cd55-4297-b433-00d0e2b1e08d	453998d9-d9f9-479d-86c0-d889a58b836d	g.chr5:150073655C>T	ENST00000199814.4	-	8	1015	c.894G>A	c.(892-894)ctG>ctA	p.L298L	RBM22_ENST00000540000.1_Silent_p.L249L|RBM22_ENST00000447771.2_Silent_p.L249L	NM_018047.2	NP_060517.1	Q9NW64	RBM22_HUMAN	RNA binding motif protein 22	298	RRM.				protein import into nucleus, translocation	catalytic step 2 spliceosome|cytoplasm	calcium-dependent protein binding|nucleotide binding|RNA binding|zinc ion binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|ovary(1)	17		Medulloblastoma(196;0.167)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ATTTCACATTCAGTCTGCGGC	0.398													5	129					0	0	0.014758	0	0	T	150073655	C	T	150073655	2	4	108	1	0	0	0	0	0	0	0	1	13174	813	29	2		2	RBM22	5	150073655	Silent	SNP	C	TCGA-DU-7018-01A-11D-2024-08	9272186	150073655	30841605	15	20424											
CPEB4	80315	broad.mit.edu	37	5	173317440	173317440	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-7018-01A-11D-2024-08	TCGA-DU-7018-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29c55a80-cd55-4297-b433-00d0e2b1e08d	453998d9-d9f9-479d-86c0-d889a58b836d	g.chr5:173317440A>T	ENST00000265085.5	+	1	2158	c.704A>T	c.(703-705)cAt>cTt	p.H235L	CPEB4_ENST00000519835.1_Missense_Mutation_p.H235L|CPEB4_ENST00000334035.5_Missense_Mutation_p.H235L|CPEB4_ENST00000520867.1_Missense_Mutation_p.H235L	NM_030627.2	NP_085130.2	Q17RY0	CPEB4_HUMAN	cytoplasmic polyadenylation element binding protein 4	235	His-rich.						nucleotide binding|RNA binding			NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	20	Renal(175;0.000159)|Lung NSC(126;0.0128)|all_lung(126;0.0202)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			CACCACCCACATCACCCTCAT	0.537													18	104					0	0	0.0333	0	0	T	173317440	A	T	173317440	3	4	108	1	0	0	0	0	1	0	0	0	3826	217	8	4	706	4	CPEB4	5	173317440	Missense_Mutation	SNP	A	TCGA-DU-7018-01A-11D-2024-08	23243785	173317440	7597820	16	20425											
RNF130	55819	broad.mit.edu	37	5	179393937	179393937	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-7018-01A-11D-2024-08	TCGA-DU-7018-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29c55a80-cd55-4297-b433-00d0e2b1e08d	453998d9-d9f9-479d-86c0-d889a58b836d	g.chr5:179393937C>A	ENST00000522208.2	-	7	1037	c.1019G>T	c.(1018-1020)aGa>aTa	p.R340I	RNF130_ENST00000261947.4_Missense_Mutation_p.R340I|RNF130_ENST00000521389.1_Missense_Mutation_p.R340I			Q86XS8	GOLI_HUMAN	ring finger protein 130	340					apoptosis	cytoplasm|integral to membrane|nucleus	ubiquitin-protein ligase activity|zinc ion binding			breast(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	17	all_cancers(89;5.49e-05)|all_epithelial(37;1.94e-05)|Renal(175;0.000159)|Lung NSC(126;0.00118)|all_lung(126;0.00212)	all_cancers(40;0.0294)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GAGGGCTGATCTTCGGTTAAC	0.517													5	91					3.59834e-05	3.78446e-05	0.021553	1	0	A	179393937	C	A	179393937	3	1	108	1	0	0	0	0	1	0	0	0	13490	913	32	4	252	4	RNF130	5	179393937	Missense_Mutation	SNP	C	TCGA-DU-7018-01A-11D-2024-08	6076497	179393937	1521323	17	20426											
NKAPL	222698	broad.mit.edu	37	6	28228259	28228259	+	Silent	SNP	A	A	G			TCGA-DU-7018-01A-11D-2024-08	TCGA-DU-7018-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29c55a80-cd55-4297-b433-00d0e2b1e08d	453998d9-d9f9-479d-86c0-d889a58b836d	g.chr6:28228259A>G	ENST00000343684.3	+	1	1162	c.1110A>G	c.(1108-1110)gcA>gcG	p.A370A		NM_001007531.1	NP_001007532.1	Q5M9Q1	NKAPL_HUMAN	NFKB activating protein-like	370										breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						GAGCTCTTGCATCCTTTAACC	0.443													45	53					0	0	0.045515	0	0	G	28228259	A	G	28228259	2	3	108	1	0	0	0	0	0	0	0	1	10487	204	8	3		3	NKAPL	6	28228259	Silent	SNP	A	TCGA-DU-7018-01A-11D-2024-08		28228259	142886808	18	20427											
PPP1R3A	5506	broad.mit.edu	37	7	113517991	113517991	+	Silent	SNP	A	A	G			TCGA-DU-7018-01A-11D-2024-08	TCGA-DU-7018-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29c55a80-cd55-4297-b433-00d0e2b1e08d	453998d9-d9f9-479d-86c0-d889a58b836d	g.chr7:113517991A>G	ENST00000284601.3	-	4	3224	c.3156T>C	c.(3154-3156)acT>acC	p.T1052T		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	1052					glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						CAGGAAGACTAGTAGAAGCAG	0.368													99	124					0	0	0.048971	0	0	G	113517991	A	G	113517991	2	3	108	1	0	0	0	0	0	0	0	1	12420	407	15	3		3	PPP1R3A	7	113517991	Silent	SNP	A	TCGA-DU-7018-01A-11D-2024-08		113517991	45620672	19	20428											
MYOM2	9172	broad.mit.edu	37	8	2021511	2021511	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-7018-01A-11D-2024-08	TCGA-DU-7018-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29c55a80-cd55-4297-b433-00d0e2b1e08d	453998d9-d9f9-479d-86c0-d889a58b836d	g.chr8:2021511G>T	ENST00000262113.4	+	10	1192	c.1051G>T	c.(1051-1053)Ggc>Tgc	p.G351C	MYOM2_ENST00000523438.1_Intron	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	351	Ig-like C2-type 2.				muscle contraction	myosin filament	structural constituent of muscle			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		GGACGACGAGGGCCTGTACAC	0.602													12	44					4.3838e-07	4.77521e-07	0.105934	1	0	T	2021511	G	T	2021511	3	4	108	1	0	0	0	0	1	0	0	0	10140	1232	43	5	1085	5	MYOM2	8	2021511	Missense_Mutation	SNP	G	TCGA-DU-7018-01A-11D-2024-08		2021511	144342511	20	20429											
MRPL15	29088	broad.mit.edu	37	8	55049886	55049889	+	Frame_Shift_Del	DEL	GGTC	GGTC	-	rs144260791		TCGA-DU-7018-01A-11D-2024-08	TCGA-DU-7018-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29c55a80-cd55-4297-b433-00d0e2b1e08d	453998d9-d9f9-479d-86c0-d889a58b836d	g.chr8:55049886_55049889delGGTC	ENST00000260102.4	+	3	396_399	c.322_325delGGTC	c.(322-327)ggtcgtfs	p.GR108fs		NM_014175.3	NP_054894.1	Q9P015	RM15_HUMAN	mitochondrial ribosomal protein L15	108					translation	large ribosomal subunit|mitochondrion	structural constituent of ribosome			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)|skin(3)	10		Lung NSC(129;0.109)|all_epithelial(80;0.134)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;4.3e-07)|Epithelial(17;5.79e-05)|all cancers(17;0.000458)			TATTGATTTGGGTCGTGTTGATCC	0.426													28	60	---	---	---	---						-	55049889	GGTC	-	55049886	7	5	108	1	0	1	0	1	0	0	0	0	9829	1232	43	0	332	0	MRPL15	8	55049886	Frame_Shift_Del	DEL	GGTC	TCGA-DU-7018-01A-11D-2024-08	53028375	55049886	91314136	21	20430											
PRDM14	63978	broad.mit.edu	37	8	70978498	70978498	+	Silent	SNP	C	C	T			TCGA-DU-7018-01A-11D-2024-08	TCGA-DU-7018-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29c55a80-cd55-4297-b433-00d0e2b1e08d	453998d9-d9f9-479d-86c0-d889a58b836d	g.chr8:70978498C>T	ENST00000276594.2	-	5	1356	c.1155G>A	c.(1153-1155)ccG>ccA	p.P385P		NM_024504.3	NP_078780.1	Q9GZV8	PRD14_HUMAN	PR domain containing 14	385					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Breast(64;0.193)		Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)			GCTGCTTCCCCGGCTCTGTGA	0.537													8	76					0	0	0.047766	0	0	T	70978498	C	T	70978498	2	4	108	1	0	0	0	0	0	0	0	1	12507	639	23	1		1	PRDM14	8	70978498	Silent	SNP	C	TCGA-DU-7018-01A-11D-2024-08	15928612	70978498	75385524	22	20431											
VPS13B	157680	broad.mit.edu	37	8	100589785	100589785	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-7018-01A-11D-2024-08	TCGA-DU-7018-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29c55a80-cd55-4297-b433-00d0e2b1e08d	453998d9-d9f9-479d-86c0-d889a58b836d	g.chr8:100589785T>C	ENST00000358544.2	+	33	5330	c.5219T>C	c.(5218-5220)gTg>gCg	p.V1740A	VPS13B_ENST00000357162.2_Missense_Mutation_p.V1715A|VPS13B_ENST00000395996.1_3'UTR	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	1740			Missing (in COH1).		protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TTCCTAAGTGTGGCTCAAGTT	0.388													10	87					0	0	0.069234	0	0	C	100589785	T	C	100589785	3	2	108	1	0	0	0	0	1	0	0	0	17250	1696	59	3	5539	3	VPS13B	8	100589785	Missense_Mutation	SNP	T	TCGA-DU-7018-01A-11D-2024-08	29611287	100589785	45774237	23	20432											
NOTCH1	4851	broad.mit.edu	37	9	139392000	139392000	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7018-01A-11D-2024-08	TCGA-DU-7018-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29c55a80-cd55-4297-b433-00d0e2b1e08d	453998d9-d9f9-479d-86c0-d889a58b836d	g.chr9:139392000G>A	ENST00000277541.6	-	34	6266	c.6191C>T	c.(6190-6192)cCc>cTc	p.P2064L		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	2064					aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CAGAAACAGGGGTGTCTCCTC	0.677			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			3	20					0	0	0.009096	0	0	A	139392000	G	A	139392000	3	1	108	1	0	0	0	0	1	0	0	0	10594	1232	43	2	1480	2	NOTCH1	9	139392000	Missense_Mutation	SNP	G	TCGA-DU-7018-01A-11D-2024-08		139392000	1821431	24	20433											
TACR2	6865	broad.mit.edu	37	10	71164757	71164757	+	Missense_Mutation	SNP	G	G	A	rs149794645		TCGA-DU-7018-01A-11D-2024-08	TCGA-DU-7018-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29c55a80-cd55-4297-b433-00d0e2b1e08d	453998d9-d9f9-479d-86c0-d889a58b836d	g.chr10:71164757G>A	ENST00000373306.4	-	5	1565	c.1022C>T	c.(1021-1023)aCg>aTg	p.T341M	TACR2_ENST00000373307.1_Missense_Mutation_p.T129M	NM_001057.2	NP_001048.2	P21452	NK2R_HUMAN	tachykinin receptor 2	341					excretion|muscle contraction	integral to plasma membrane	tachykinin receptor activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	11					Clonidine(DB00575)|Octreotide(DB00104)	GAGGGAGGTCGTGGGAGTCAG	0.627													4	84					0	0	0.009096	0	0	A	71164757	G	A	71164757	3	1	108	1	0	0	0	0	1	0	0	0	15563	1145	40	1	178	1	TACR2	10	71164757	Missense_Mutation	SNP	G	TCGA-DU-7018-01A-11D-2024-08		71164757	64369990	25	20434											
CLRN3	119467	broad.mit.edu	37	10	129690850	129690850	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7018-01A-11D-2024-08	TCGA-DU-7018-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29c55a80-cd55-4297-b433-00d0e2b1e08d	453998d9-d9f9-479d-86c0-d889a58b836d	g.chr10:129690850C>T	ENST00000368671.3	-	1	361	c.199G>A	c.(199-201)Gga>Aga	p.G67R		NM_152311.3	NP_689524.1	Q8NCR9	CLRN3_HUMAN	clarin 3	67						integral to membrane				endometrium(1)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	6		all_epithelial(44;0.00168)|all_lung(145;0.0586)|Lung NSC(174;0.0765)|all_neural(114;0.201)|Glioma(114;0.222)|Colorectal(57;0.235)				TCTGCAAGTCCGTGACTCAAT	0.368													4	78					0	0	0.009096	0	0	T	129690850	C	T	129690850	3	4	108	1	0	0	0	0	1	0	0	0	3582	661	23	1	493	1	CLRN3	10	129690850	Missense_Mutation	SNP	C	TCGA-DU-7018-01A-11D-2024-08	58526093	129690850	5843897	26	20435											
PSMC3	5702	broad.mit.edu	37	11	47444498	47444498	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7018-01A-11D-2024-08	TCGA-DU-7018-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29c55a80-cd55-4297-b433-00d0e2b1e08d	453998d9-d9f9-479d-86c0-d889a58b836d	g.chr11:47444498C>T	ENST00000298852.3	-	7	775	c.618G>A	c.(616-618)atG>atA	p.M206I	PSMC3_ENST00000602866.1_Missense_Mutation_p.M190I|PSMC3_ENST00000530912.1_Missense_Mutation_p.M164I	NM_002804.4	NP_002795.2	P17980	PRS6A_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 3	206					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome complex	ATP binding|nucleoside-triphosphatase activity|protein binding|transcription coactivator activity|transcription corepressor activity			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(4)|urinary_tract(1)	17				Lung(87;0.0932)|BRCA - Breast invasive adenocarcinoma(625;0.13)		CCTTGTGGTTCATTGGCAAGA	0.592													18	214					0	0	0.049695	0	0	T	47444498	C	T	47444498	3	4	108	1	0	0	0	0	1	0	0	0	12736	826	29	2	725	2	PSMC3	11	47444498	Missense_Mutation	SNP	C	TCGA-DU-7018-01A-11D-2024-08		47444498	87562018	27	20436											
PCNXL3	399909	broad.mit.edu	37	11	65393163	65393163	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-7018-01A-11D-2024-08	TCGA-DU-7018-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29c55a80-cd55-4297-b433-00d0e2b1e08d	453998d9-d9f9-479d-86c0-d889a58b836d	g.chr11:65393163T>G	ENST00000355703.3	+	19	3715	c.3176T>G	c.(3175-3177)aTc>aGc	p.I1059S		NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN	pecanex-like 3 (Drosophila)	1059						integral to membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						TGTGTGGTGATCGCCGTGCTC	0.627											OREG0021084	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	17					0	0	0.09319	0	0	G	65393163	T	G	65393163	3	3	108	1	0	0	0	0	1	0	0	0	11640	1435	50	4	3250	4	PCNXL3	11	65393163	Missense_Mutation	SNP	T	TCGA-DU-7018-01A-11D-2024-08	17948665	65393163	69613353	28	20437											
GPR83	10888	broad.mit.edu	37	11	94113592	94113592	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-7018-01A-11D-2024-08	TCGA-DU-7018-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29c55a80-cd55-4297-b433-00d0e2b1e08d	453998d9-d9f9-479d-86c0-d889a58b836d	g.chr11:94113592C>A	ENST00000243673.2	-	4	1166	c.995G>T	c.(994-996)tGg>tTg	p.W332L	GPR83_ENST00000539203.2_Missense_Mutation_p.W290L	NM_016540.3	NP_057624.3	Q9NYM4	GPR83_HUMAN	G protein-coupled receptor 83	332						integral to membrane|plasma membrane	neuropeptide Y receptor activity			NS(1)|breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				CATGGCAAACCAGTGGAAGGC	0.517													68	150					5.26073e-25	6.17124e-25	0.048971	1	0	A	94113592	C	A	94113592	3	1	108	1	0	0	0	0	1	0	0	0	6753	595	21	5	280	5	GPR83	11	94113592	Missense_Mutation	SNP	C	TCGA-DU-7018-01A-11D-2024-08	28720429	94113592	40892924	29	20438											
KRT71	112802	broad.mit.edu	37	12	52946764	52946764	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7018-01A-11D-2024-08	TCGA-DU-7018-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29c55a80-cd55-4297-b433-00d0e2b1e08d	453998d9-d9f9-479d-86c0-d889a58b836d	g.chr12:52946764C>T	ENST00000267119.5	-	1	167	c.98G>A	c.(97-99)cGg>cAg	p.R33Q		NM_033448.2	NP_258259.1	Q3SY84	K2C71_HUMAN	keratin 71	33	Gly-rich.|Head.						structural molecule activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.194)		GCTCCCTGCCCGGAAGGAGGA	0.652													19	150					0	0	0.043863	0	0	T	52946764	C	T	52946764	3	4	108	1	0	0	0	0	1	0	0	0	8527	652	23	1	1509	1	KRT71	12	52946764	Missense_Mutation	SNP	C	TCGA-DU-7018-01A-11D-2024-08		52946764	80905131	30	20439											
FGD6	55785	broad.mit.edu	37	12	95604123	95604123	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7018-01A-11D-2024-08	TCGA-DU-7018-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29c55a80-cd55-4297-b433-00d0e2b1e08d	453998d9-d9f9-479d-86c0-d889a58b836d	g.chr12:95604123G>A	ENST00000343958.4	-	2	1160	c.937C>T	c.(937-939)Cca>Tca	p.P313S	FGD6_ENST00000549499.1_Missense_Mutation_p.P313S|FGD6_ENST00000546711.1_Missense_Mutation_p.P313S	NM_018351.3	NP_060821.3	Q6ZV73	FGD6_HUMAN	FYVE, RhoGEF and PH domain containing 6	313					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						TTGGGAGTTGGAAATTTTGGG	0.413													12	143					0	0	0.080935	0	0	A	95604123	G	A	95604123	3	1	108	1	0	0	0	0	1	0	0	0	5870	1174	41	2	3435	2	FGD6	12	95604123	Missense_Mutation	SNP	G	TCGA-DU-7018-01A-11D-2024-08	42657359	95604123	38247772	31	20440											
POTEG	404785	broad.mit.edu	37	14	19553818	19553818	+	Silent	SNP	C	C	T			TCGA-DU-7018-01A-11D-2024-08	TCGA-DU-7018-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29c55a80-cd55-4297-b433-00d0e2b1e08d	453998d9-d9f9-479d-86c0-d889a58b836d	g.chr14:19553818C>T	ENST00000409832.3	+	1	454	c.402C>T	c.(400-402)caC>caT	p.H134H		NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	134										cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						CGAGGTACCACGTCCGTCGAG	0.587													30	348					0	0	0.045515	0	0	T	19553818	C	T	19553818	2	4	108	1	0	0	0	0	0	0	0	1	12313	535	19	1		1	POTEG	14	19553818	Silent	SNP	C	TCGA-DU-7018-01A-11D-2024-08		19553818	87795722	32	20441											
TCF12	6938	broad.mit.edu	37	15	57555366	57555369	+	Frame_Shift_Del	DEL	AAAG	AAAG	-			TCGA-DU-7018-01A-11D-2024-08	TCGA-DU-7018-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29c55a80-cd55-4297-b433-00d0e2b1e08d	453998d9-d9f9-479d-86c0-d889a58b836d	g.chr15:57555366_57555369delAAAG	ENST00000267811.5	+	17	1871_1874	c.1567_1570delAAAG	c.(1567-1572)aaagaafs	p.KE523fs	TCF12_ENST00000452095.2_Frame_Shift_Del_p.KE543fs|TCF12_ENST00000343827.3_Frame_Shift_Del_p.KE353fs|TCF12_ENST00000543579.1_Frame_Shift_Del_p.KE377fs|TCF12_ENST00000438423.2_Frame_Shift_Del_p.KE547fs|TCF12_ENST00000537840.1_Frame_Shift_Del_p.KE287fs|TCF12_ENST00000559703.1_Frame_Shift_Del_p.KE181fs|TCF12_ENST00000333725.5_Frame_Shift_Del_p.KE547fs|TCF12_ENST00000559710.1_Frame_Shift_Del_p.KE157fs|TCF12_ENST00000557843.1_Frame_Shift_Del_p.KE523fs	NM_003205.3|NM_207038.1	NP_003196.1|NP_996921.1	Q99081	HTF4_HUMAN	transcription factor 12	523				K -> E (in Ref. 3; CAD89914).	immune response|muscle organ development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity		TCF12/NR4A3(2)	breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	36		Colorectal(260;0.0907)		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)		GACTGAAAACAAAGAAAAGGATGA	0.382			T	TEC	extraskeletal myxoid chondrosarcoma								22	28	---	---	---	---						-	57555369	AAAG	-	57555366	7	5	108	1	0	1	0	1	0	0	0	0	15747	131	5	0	1778	0	TCF12	15	57555366	Frame_Shift_Del	DEL	AAAG	TCGA-DU-7018-01A-11D-2024-08		57555366	44976026	33	20442											
PDE8A	5151	broad.mit.edu	37	15	85681058	85681058	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-7018-01A-11D-2024-08	TCGA-DU-7018-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29c55a80-cd55-4297-b433-00d0e2b1e08d	453998d9-d9f9-479d-86c0-d889a58b836d	g.chr15:85681058A>G	ENST00000310298.4	+	23	2666	c.2414A>G	c.(2413-2415)cAt>cGt	p.H805R	PDE8A_ENST00000339708.5_Missense_Mutation_p.H759R|PDE8A_ENST00000557957.1_Missense_Mutation_p.H733R|PDE8A_ENST00000394553.1_Missense_Mutation_p.H805R			O60658	PDE8A_HUMAN	phosphodiesterase 8A	805	Catalytic (By similarity).				cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	25	Colorectal(223;0.227)		BRCA - Breast invasive adenocarcinoma(143;0.0608)			TTAATGCAGCATCTTGACAAC	0.463													10	37					0	0	0.058154	0	0	G	85681058	A	G	85681058	3	3	108	1	0	0	0	0	1	0	0	0	11700	217	8	3	2500	3	PDE8A	15	85681058	Missense_Mutation	SNP	A	TCGA-DU-7018-01A-11D-2024-08	28125692	85681058	16850334	34	20443											
HS3ST6	64711	broad.mit.edu	37	16	1962181	1962181	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7018-01A-11D-2024-08	TCGA-DU-7018-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29c55a80-cd55-4297-b433-00d0e2b1e08d	453998d9-d9f9-479d-86c0-d889a58b836d	g.chr16:1962181C>T	ENST00000454677.2	-	2	555	c.490G>A	c.(490-492)Ggg>Agg	p.G164R	HS3ST6_ENST00000293937.3_Missense_Mutation_p.G147R|HS3ST6_ENST00000443547.1_Missense_Mutation_p.G116R			C9JH64	C9JH64_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 6	116										endometrium(2)|lung(2)	4						GTGATCTGCCCATCCAGGGTT	0.687													6	12					0	0	0.021553	0	0	T	1962181	C	T	1962181	3	4	108	1	0	0	0	0	1	0	0	0	7410	594	21	2	593	2	HS3ST6	16	1962181	Missense_Mutation	SNP	C	TCGA-DU-7018-01A-11D-2024-08		1962181	88392572	35	20444											
OR1A1	8383	broad.mit.edu	37	17	3119139	3119139	+	Silent	SNP	G	G	A	rs113780617		TCGA-DU-7018-01A-11D-2024-08	TCGA-DU-7018-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29c55a80-cd55-4297-b433-00d0e2b1e08d	453998d9-d9f9-479d-86c0-d889a58b836d	g.chr17:3119139G>A	ENST00000304094.1	+	1	225	c.225G>A	c.(223-225)tcG>tcA	p.S75S		NM_014565.2	NP_055380.2	Q9P1Q5	OR1A1_HUMAN	olfactory receptor, family 1, subfamily A, member 1	75					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	23						TCTTCTCATCGGTAACCATCC	0.483													20	179					0	0	0.049695	0	0	A	3119139	G	A	3119139	2	1	108	1	0	0	0	0	0	0	0	1	10997	1103	39	1		1	OR1A1	17	3119139	Silent	SNP	G	TCGA-DU-7018-01A-11D-2024-08		3119139	78076071	36	20445											
PLCD3	113026	broad.mit.edu	37	17	43194022	43194022	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-7018-01A-11D-2024-08	TCGA-DU-7018-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29c55a80-cd55-4297-b433-00d0e2b1e08d	453998d9-d9f9-479d-86c0-d889a58b836d	g.chr17:43194022G>T	ENST00000322765.5	-	8	1503	c.1390C>A	c.(1390-1392)Ccc>Acc	p.P464T	PLCD3_ENST00000540511.1_5'UTR	NM_133373.3	NP_588614.1	Q8N3E9	PLCD3_HUMAN	phospholipase C, delta 3	464	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process	cleavage furrow|cytoplasm|membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(2)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)|stomach(2)|urinary_tract(2)	17					Phosphatidylserine(DB00144)	AGCTCCTCGGGATTTGGGGAG	0.692													29	34					1.61788e-16	1.86209e-16	0.050027	1	0	T	43194022	G	T	43194022	3	4	108	1	0	0	0	0	1	0	0	0	12080	1174	41	5	1010	5	PLCD3	17	43194022	Missense_Mutation	SNP	G	TCGA-DU-7018-01A-11D-2024-08	40074883	43194022	38001188	37	20446											
OR4D2	124538	broad.mit.edu	37	17	56247641	56247641	+	Missense_Mutation	SNP	G	G	A	rs149114670		TCGA-DU-7018-01A-11D-2024-08	TCGA-DU-7018-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29c55a80-cd55-4297-b433-00d0e2b1e08d	453998d9-d9f9-479d-86c0-d889a58b836d	g.chr17:56247641G>A	ENST00000545221.1	+	1	625	c.625G>A	c.(625-627)Gtc>Atc	p.V209I		NM_001004707.3	NP_001004707.1	P58180	OR4D2_HUMAN	olfactory receptor, family 4, subfamily D, member 2	209					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V209I(2)		breast(1)|kidney(1)|large_intestine(1)|lung(19)|ovary(1)|skin(2)|stomach(1)	26						GCTGGATGTCGTCTGGTTCTT	0.527													17	72					0	0	0.0333	0	0	A	56247641	G	A	56247641	3	1	108	1	0	0	0	0	1	0	0	0	11104	1145	40	1	627	1	OR4D2	17	56247641	Missense_Mutation	SNP	G	TCGA-DU-7018-01A-11D-2024-08	13053619	56247641	24947569	38	20447											
SMARCA4	6597	broad.mit.edu	37	19	11144121	11144121	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-7018-01A-11D-2024-08	TCGA-DU-7018-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29c55a80-cd55-4297-b433-00d0e2b1e08d	453998d9-d9f9-479d-86c0-d889a58b836d	g.chr19:11144121C>G	ENST00000358026.2	+	26	3986	c.3702C>G	c.(3700-3702)ttC>ttG	p.F1234L	SMARCA4_ENST00000413806.3_Missense_Mutation_p.F1234L|SMARCA4_ENST00000538456.3_3'UTR|SMARCA4_ENST00000344626.4_Missense_Mutation_p.F1234L|SMARCA4_ENST00000444061.3_Missense_Mutation_p.F1234L|SMARCA4_ENST00000590574.1_Missense_Mutation_p.F1234L|SMARCA4_ENST00000429416.3_Missense_Mutation_p.F1234L|SMARCA4_ENST00000589677.1_Missense_Mutation_p.F1234L|SMARCA4_ENST00000450717.3_Missense_Mutation_p.F1234L|SMARCA4_ENST00000541122.2_Missense_Mutation_p.F1234L	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	1234	Helicase C-terminal.				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.F1234L(1)|p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				CCGGCATGTTCGACCAGAAGT	0.637			"F, N, Mis"		NSCLC								24	69					0	0	0.099896	0	0	G	11144121	C	G	11144121	3	3	108	1	0	0	0	0	1	0	0	0	14824	883	31	5	3800	5	SMARCA4	19	11144121	Missense_Mutation	SNP	C	TCGA-DU-7018-01A-11D-2024-08		11144121	47984862	39	20448											
ZNF91	7644	broad.mit.edu	37	19	23543197	23543197	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7018-01A-11D-2024-08	TCGA-DU-7018-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29c55a80-cd55-4297-b433-00d0e2b1e08d	453998d9-d9f9-479d-86c0-d889a58b836d	g.chr19:23543197C>T	ENST00000300619.7	-	4	2789	c.2584G>A	c.(2584-2586)Gct>Act	p.A862T	ZNF91_ENST00000397082.2_Missense_Mutation_p.A830T|ZNF91_ENST00000599743.1_Intron	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	862						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding						all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				TGATTAAAAGCTTTGCCACAT	0.358													5	38					0	0	0.021553	0	0	T	23543197	C	T	23543197	3	4	108	1	0	0	0	0	1	0	0	0	18242	797	28	2	995	2	ZNF91	19	23543197	Missense_Mutation	SNP	C	TCGA-DU-7018-01A-11D-2024-08	12399076	23543197	35585786	40	20449											
CIC	23152	broad.mit.edu	37	19	42791372	42791373	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-DU-7018-01A-11D-2024-08	TCGA-DU-7018-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29c55a80-cd55-4297-b433-00d0e2b1e08d	453998d9-d9f9-479d-86c0-d889a58b836d	g.chr19:42791372_42791373delAG	ENST00000572681.2	+	4	3227_3228	c.3159_3160delAG	c.(3157-3162)acagagfs	p.E1054fs	CIC_ENST00000575354.2_Frame_Shift_Del_p.E145fs|CIC_ENST00000160740.3_Frame_Shift_Del_p.E145fs			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	145	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				ACAGTGAGACAGAGAGTGACCA	0.663			"Mis, F, S"		oligodendroglioma								19	8	---	---	---	---						-	42791373	AG	-	42791372	7	5	108	1	0	1	0	1	0	0	0	0	3446	175	7	0	442	0	CIC	19	42791372	Frame_Shift_Del	DEL	AG	TCGA-DU-7018-01A-11D-2024-08	19248175	42791372	16337611	41	20450											
EDEM2	55741	broad.mit.edu	37	20	33722668	33722668	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7018-01A-11D-2024-08	TCGA-DU-7018-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29c55a80-cd55-4297-b433-00d0e2b1e08d	453998d9-d9f9-479d-86c0-d889a58b836d	g.chr20:33722668G>A	ENST00000540582.1	-	10	1173	c.452C>T	c.(451-453)aCg>aTg	p.T151M	EDEM2_ENST00000374491.3_Missense_Mutation_p.T155M|EDEM2_ENST00000542871.1_Intron|EDEM2_ENST00000541621.1_De_novo_Start_InFrame|EDEM2_ENST00000374492.3_Missense_Mutation_p.T192M			Q9BV94	EDEM2_HUMAN	ER degradation enhancer, mannosidase alpha-like 2	192					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	22			BRCA - Breast invasive adenocarcinoma(18;0.00936)			AATCCCTGCCGTACAGGTGAC	0.542													8	58					0	0	0.058154	0	0	A	33722668	G	A	33722668	3	1	108	1	0	0	0	0	1	0	0	0	4938	1145	40	1	1185	1	EDEM2	20	33722668	Missense_Mutation	SNP	G	TCGA-DU-7018-01A-11D-2024-08		33722668	29302852	42	20451											
APOBEC3B	9582	broad.mit.edu	37	22	39387537	39387537	+	Silent	SNP	C	C	T	rs144471703		TCGA-DU-7018-01A-11D-2024-08	TCGA-DU-7018-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29c55a80-cd55-4297-b433-00d0e2b1e08d	453998d9-d9f9-479d-86c0-d889a58b836d	g.chr22:39387537C>T	ENST00000402182.3	+	6	979	c.924C>T	c.(922-924)ttC>ttT	p.F308F	APOBEC3B_ENST00000333467.3_Silent_p.F308F|APOBEC3B_ENST00000407298.3_Silent_p.F283F			Q9UH17	ABC3B_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3B	308					negative regulation of transposition		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|RNA binding|zinc ion binding			cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	13	Melanoma(58;0.04)					TGCGCATCTTCGCTGCCCGCA	0.572													35	194					0	0	0.059317	0	0	T	39387537	C	T	39387537	2	4	108	1	0	0	0	0	0	0	0	1	787	883	31	1		1	APOBEC3B	22	39387537	Silent	SNP	C	TCGA-DU-7018-01A-11D-2024-08		39387537	11917029	43	20452											
OTUD5	55593	broad.mit.edu	37	X	48791845	48791845	+	Silent	SNP	G	G	A			TCGA-DU-7018-01A-11D-2024-08	TCGA-DU-7018-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29c55a80-cd55-4297-b433-00d0e2b1e08d	453998d9-d9f9-479d-86c0-d889a58b836d	g.chrX:48791845G>A	ENST00000156084.4	-	5	1026	c.966C>T	c.(964-966)gaC>gaT	p.D322D	OTUD5_ENST00000396743.3_Silent_p.D317D|OTUD5_ENST00000376488.3_Silent_p.D317D|OTUD5_ENST00000428668.2_Silent_p.D100D|OTUD5_ENST00000484499.1_5'UTR	NM_017602.3	NP_060072.1	Q96G74	OTUD5_HUMAN	OTU domain containing 5	322	OTU.				negative regulation of type I interferon production		cysteine-type peptidase activity			endometrium(2)|large_intestine(3)|lung(6)|pancreas(2)	13						GAATGGGTTCGTCCTCGTTTT	0.507													13	120					0	0	0.105934	0	0	A	48791845	G	A	48791845	2	1	108	1	0	0	0	0	0	0	0	1	11362	1136	40	1		1	OTUD5	23	48791845	Silent	SNP	G	TCGA-DU-7018-01A-11D-2024-08		48791845	106478715	44	20453											
ESX1	80712	broad.mit.edu	37	X	103499230	103499230	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-7018-01A-11D-2024-08	TCGA-DU-7018-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29c55a80-cd55-4297-b433-00d0e2b1e08d	453998d9-d9f9-479d-86c0-d889a58b836d	g.chrX:103499230C>A	ENST00000372588.4	-	2	194	c.111G>T	c.(109-111)atG>atT	p.M37I		NM_153448.3	NP_703149.1	Q8N693	ESX1_HUMAN	ESX homeobox 1	37					negative regulation of transcription, DNA-dependent|regulation of cell cycle	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(10)|lung(12)|ovary(1)|skin(2)	27						CTCCCCTTGCCATCAGCGAGG	0.602													25	198					1.1804e-14	1.33341e-14	0.0918	1	0	A	103499230	C	A	103499230	3	1	108	1	0	0	0	0	1	0	0	0	5291	594	21	5	1121	5	ESX1	23	103499230	Missense_Mutation	SNP	C	TCGA-DU-7018-01A-11D-2024-08	54707385	103499230	51771330	45	20454											
SASH3	54440	broad.mit.edu	37	X	128914084	128914084	+	Missense_Mutation	SNP	G	G	A	rs140091268		TCGA-DU-7018-01A-11D-2024-08	TCGA-DU-7018-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29c55a80-cd55-4297-b433-00d0e2b1e08d	453998d9-d9f9-479d-86c0-d889a58b836d	g.chrX:128914084G>A	ENST00000356892.3	+	1	125	c.11G>A	c.(10-12)cGc>cAc	p.R4H	SASH3_ENST00000476532.1_3'UTR	NM_018990.3	NP_061863.1	O75995	SASH3_HUMAN	SAM and SH3 domain containing 3	4										breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	12						ATGCTGCGCCGCAAGCCCTCC	0.577													10	24					0	0	0.080935	0	0	A	128914084	G	A	128914084	3	1	108	1	0	0	0	0	1	0	0	0	13902	1087	38	1	13	1	SASH3	23	128914084	Missense_Mutation	SNP	G	TCGA-DU-7018-01A-11D-2024-08	25414854	128914084	26356476	46	20455											
CLCNKB	1188	broad.mit.edu	37	1	16378309	16378309	+	Silent	SNP	C	C	T			TCGA-DU-7019-01A-11D-2024-08	TCGA-DU-7019-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d72485-c192-4735-97fc-e46e71bc0209	f211dabd-dc6e-4168-a894-6a2c1eeb90f8	g.chr1:16378309C>T	ENST00000375679.4	+	14	1513	c.1402C>T	c.(1402-1404)Ctg>Ttg	p.L468L	CLCNKB_ENST00000375667.3_Silent_p.L299L	NM_000085.4	NP_000076.2			chloride channel, voltage-sensitive Kb											breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	21		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)		GGGGTATGCTCTGGCAGGTGA	0.622													30	51					0	0	1	0	0	T	16378309	C	T	16378309	2	4	109	1	0	0	0	0	0	0	0	1	3493	912	32	2		2	CLCNKB	1	16378309	Silent	SNP	C	TCGA-DU-7019-01A-11D-2024-08		16378309	232872312	1	20456											
SPOCD1	90853	broad.mit.edu	37	1	32256502	32256502	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7019-01A-11D-2024-08	TCGA-DU-7019-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d72485-c192-4735-97fc-e46e71bc0209	f211dabd-dc6e-4168-a894-6a2c1eeb90f8	g.chr1:32256502C>T	ENST00000360482.2	-	16	3482	c.3353G>A	c.(3352-3354)cGc>cAc	p.R1118H	SPOCD1_ENST00000257100.3_Missense_Mutation_p.R598H|SPOCD1_ENST00000533231.1_Missense_Mutation_p.R1105H|RP11-84A19.3_ENST00000527035.1_RNA|SPOCD1_ENST00000373648.2_3'UTR	NM_144569.4	NP_653170.3	Q6ZMY3	SPOC1_HUMAN	SPOC domain containing 1	1118					transcription, DNA-dependent					NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	37		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)		STAD - Stomach adenocarcinoma(196;0.18)		CTGGGACTGGCGCAAGCCTGG	0.667													5	9					0	0	1	0	0	T	32256502	C	T	32256502	3	4	109	1	0	0	0	0	1	0	0	0	15134	768	27	1	301	1	SPOCD1	1	32256502	Missense_Mutation	SNP	C	TCGA-DU-7019-01A-11D-2024-08	15878193	32256502	216994119	2	20457											
TPR	7175	broad.mit.edu	37	1	186302356	186302358	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-DU-7019-01A-11D-2024-08	TCGA-DU-7019-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d72485-c192-4735-97fc-e46e71bc0209	f211dabd-dc6e-4168-a894-6a2c1eeb90f8	g.chr1:186302356_186302358delGAG	ENST00000367478.4	-	37	5647_5649	c.5351_5353delCTC	c.(5350-5355)cctcag>cag	p.P1784del		NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein						carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity			autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		GGCTCAATCTGAGGATGACTCTG	0.443			T	NTRK1	papillary thyroid								24	89	---	---	---	---						-	186302358	GAG	-	186302356	7	5	109	1	0	1	0	1	0	0	0	0	16477	1299	45	0	1798	0	TPR	1	186302356	In_Frame_Del	DEL	GAG	TCGA-DU-7019-01A-11D-2024-08	154045854	186302356	62948265	3	20458											
CGREF1	10669	broad.mit.edu	37	2	27324256	27324257	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-DU-7019-01A-11D-2024-08	TCGA-DU-7019-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d72485-c192-4735-97fc-e46e71bc0209	f211dabd-dc6e-4168-a894-6a2c1eeb90f8	g.chr2:27324256_27324257delCT	ENST00000402394.1	-	6	1110_1111	c.842_843delAG	c.(841-843)gagfs	p.E281fs	CGREF1_ENST00000312734.4_Frame_Shift_Del_p.E281fs|CGREF1_ENST00000260595.5_Frame_Shift_Del_p.E264fs|CGREF1_ENST00000405600.1_Frame_Shift_Del_p.E281fs|CGREF1_ENST00000402550.1_Intron|CGREF1_ENST00000404694.3_Frame_Shift_Del_p.E403fs|CGREF1_ENST00000452318.2_Intron	NM_006569.5	NP_006560.3	Q99674	CGRE1_HUMAN	cell growth regulator with EF-hand domain 1	264					cell adhesion|cell cycle arrest|negative regulation of cell proliferation|response to stress	extracellular region	calcium ion binding			kidney(1)|lung(4)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCTCCCTGGCCTCTGCCTGGCC	0.614													34	423	---	---	---	---						-	27324257	CT	-	27324256	7	5	109	1	0	1	0	1	0	0	0	0	3327	680	24	0	309	0	CGREF1	2	27324256	Frame_Shift_Del	DEL	CT	TCGA-DU-7019-01A-11D-2024-08		27324256	215875117	4	20459											
NEB	4703	broad.mit.edu	37	2	152544001	152544004	+	Frame_Shift_Del	DEL	CAAT	CAAT	-			TCGA-DU-7019-01A-11D-2024-08	TCGA-DU-7019-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d72485-c192-4735-97fc-e46e71bc0209	f211dabd-dc6e-4168-a894-6a2c1eeb90f8	g.chr2:152544001_152544004delCAAT	ENST00000427231.2	-	27	2768_2771	c.2566_2569delATTG	c.(2566-2571)attggafs	p.IG856fs	NEB_ENST00000603639.1_Frame_Shift_Del_p.IG856fs|NEB_ENST00000604864.1_Frame_Shift_Del_p.IG856fs|NEB_ENST00000409198.1_Frame_Shift_Del_p.IG856fs|NEB_ENST00000397345.3_Frame_Shift_Del_p.IG856fs|NEB_ENST00000172853.10_Frame_Shift_Del_p.IG856fs	NM_001164507.1|NM_001271208.1	NP_001157979|NP_001258137.1	P20929	NEBU_HUMAN	nebulin	856					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CTGAGGGCTCCAATCATTTTCCCT	0.451													15	133	---	---	---	---						-	152544004	CAAT	-	152544001	7	5	109	1	0	1	0	1	0	0	0	0	10349	603	21	0	23741	0	NEB	2	152544001	Frame_Shift_Del	DEL	CAAT	TCGA-DU-7019-01A-11D-2024-08	125219745	152544001	90655372	5	20460											
DNAH7	56171	broad.mit.edu	37	2	196765182	196765182	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-7019-01A-11D-2024-08	TCGA-DU-7019-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d72485-c192-4735-97fc-e46e71bc0209	f211dabd-dc6e-4168-a894-6a2c1eeb90f8	g.chr2:196765182A>G	ENST00000312428.6	-	28	4472	c.4372T>C	c.(4372-4374)Tat>Cat	p.Y1458H		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1458	AAA 1 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						ATCATGGCATAGTCAGGTACC	0.418													9	137					0	0	1	0	0	G	196765182	A	G	196765182	3	3	109	1	0	0	0	0	1	0	0	0	4633	420	15	3	7854	3	DNAH7	2	196765182	Missense_Mutation	SNP	A	TCGA-DU-7019-01A-11D-2024-08	44221181	196765182	46434191	6	20461											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-DU-7019-01A-11D-2024-08	TCGA-DU-7019-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d72485-c192-4735-97fc-e46e71bc0209	f211dabd-dc6e-4168-a894-6a2c1eeb90f8	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								27	38					0	0	1	0	0	T	209113112	C	T	209113112	3	4	109	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-DU-7019-01A-11D-2024-08	12347930	209113112	34086261	7	20462											
SCN5A	6331	broad.mit.edu	37	3	38598771	38598771	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7019-01A-11D-2024-08	TCGA-DU-7019-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d72485-c192-4735-97fc-e46e71bc0209	f211dabd-dc6e-4168-a894-6a2c1eeb90f8	g.chr3:38598771G>A	ENST00000413689.1	-	24	4443	c.4250C>T	c.(4249-4251)aCa>aTa	p.T1417I	SCN5A_ENST00000451551.2_Missense_Mutation_p.T1363I|SCN5A_ENST00000425664.1_Intron|SCN5A_ENST00000414099.2_Intron|SCN5A_ENST00000455624.2_Missense_Mutation_p.T1416I|SCN5A_ENST00000423572.2_Missense_Mutation_p.T1416I|SCN5A_ENST00000443581.1_Missense_Mutation_p.T1416I|SCN5A_ENST00000450102.2_Missense_Mutation_p.T1363I|SCN5A_ENST00000449557.2_Missense_Mutation_p.T1363I|SCN5A_ENST00000333535.4_Missense_Mutation_p.T1417I	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1417					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	GCCTTTAAATGTTGCCTGGGA	0.498													7	32					0	0	1	0	0	A	38598771	G	A	38598771	3	1	109	1	0	0	0	0	1	0	0	0	13976	1377	48	2	1820	2	SCN5A	3	38598771	Missense_Mutation	SNP	G	TCGA-DU-7019-01A-11D-2024-08		38598771	159423659	8	20463											
KIAA1211	57482	broad.mit.edu	37	4	57182125	57182125	+	Silent	SNP	G	G	A			TCGA-DU-7019-01A-11D-2024-08	TCGA-DU-7019-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d72485-c192-4735-97fc-e46e71bc0209	f211dabd-dc6e-4168-a894-6a2c1eeb90f8	g.chr4:57182125G>A	ENST00000504228.1	+	6	2562	c.2457G>A	c.(2455-2457)tcG>tcA	p.S819S	KIAA1211_ENST00000264229.6_Silent_p.S819S|KIAA1211_ENST00000541073.1_Silent_p.S812S			Q6ZU35	K1211_HUMAN	KIAA1211	819										endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					TCACGACCTCGTCGGACAGCG	0.537													23	62					0	0	1	0	0	A	57182125	G	A	57182125	2	1	109	1	0	0	0	0	0	0	0	1	8257	1132	40	1		1	KIAA1211	4	57182125	Silent	SNP	G	TCGA-DU-7019-01A-11D-2024-08		57182125	133972151	9	20464											
IBSP	3381	broad.mit.edu	37	4	88732559	88732561	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-DU-7019-01A-11D-2024-08	TCGA-DU-7019-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d72485-c192-4735-97fc-e46e71bc0209	f211dabd-dc6e-4168-a894-6a2c1eeb90f8	g.chr4:88732559_88732561delGAA	ENST00000226284.5	+	7	518_520	c.451_453delGAA	c.(451-453)gaadel	p.E158del		NM_004967.3	NP_004958.2	P21815	SIAL_HUMAN	integrin-binding sialoprotein	158	Asp/Glu-rich (acidic).|Poly-Glu.				biomineral tissue development|cell adhesion|ossification					breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)	21		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000333)|COAD - Colon adenocarcinoma(81;0.154)		GGAAAGTGATgaagaagaagagg	0.394													8	23	---	---	---	---						-	88732561	GAA	-	88732559	7	5	109	1	0	1	0	1	0	0	0	0	7519	1291	45	0	473	0	IBSP	4	88732559	In_Frame_Del	DEL	GAA	TCGA-DU-7019-01A-11D-2024-08	31550434	88732559	102421717	10	20465											
PRMT10	90826	broad.mit.edu	37	4	148594115	148594115	+	Silent	SNP	G	G	T			TCGA-DU-7019-01A-11D-2024-08	TCGA-DU-7019-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d72485-c192-4735-97fc-e46e71bc0209	f211dabd-dc6e-4168-a894-6a2c1eeb90f8	g.chr4:148594115G>T	ENST00000322396.6	-	4	980	c.738C>A	c.(736-738)ccC>ccA	p.P246P	PRMT10_ENST00000541232.1_Silent_p.P133P	NM_138364.2	NP_612373.2	Q6P2P2	ANM10_HUMAN	protein arginine methyltransferase 10 (putative)	246						cytoplasm	binding|protein methyltransferase activity	p.P246P(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28						AATACCTTTCGGGAATATGTT	0.328													29	88					2.48696e-23	2.6457e-23	1	1	0	T	148594115	G	T	148594115	2	4	109	1	0	0	0	0	0	0	0	1	12588	1103	39	5		5	PRMT10	4	148594115	Silent	SNP	G	TCGA-DU-7019-01A-11D-2024-08	59861556	148594115	42560161	11	20466											
CPEB4	80315	broad.mit.edu	37	5	173317571	173317574	+	Frame_Shift_Del	DEL	AACA	AACA	-			TCGA-DU-7019-01A-11D-2024-08	TCGA-DU-7019-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d72485-c192-4735-97fc-e46e71bc0209	f211dabd-dc6e-4168-a894-6a2c1eeb90f8	g.chr5:173317571_173317574delAACA	ENST00000265085.5	+	1	2289_2292	c.835_838delAACA	c.(835-840)aacaaafs	p.NK279fs	CPEB4_ENST00000519835.1_Frame_Shift_Del_p.NK279fs|CPEB4_ENST00000334035.5_Frame_Shift_Del_p.NK279fs|CPEB4_ENST00000520867.1_Frame_Shift_Del_p.NK279fs	NM_030627.2	NP_085130.2	Q17RY0	CPEB4_HUMAN	cytoplasmic polyadenylation element binding protein 4	279							nucleotide binding|RNA binding			NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	20	Renal(175;0.000159)|Lung NSC(126;0.0128)|all_lung(126;0.0202)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			GAATAATCTTAACAAACCCCCCTC	0.574													45	323	---	---	---	---						-	173317574	AACA	-	173317571	7	5	109	1	0	1	0	1	0	0	0	0	3826	362	13	0	837	0	CPEB4	5	173317571	Frame_Shift_Del	DEL	AACA	TCGA-DU-7019-01A-11D-2024-08		173317571	7597689	12	20467											
PRIM2	5558	broad.mit.edu	37	6	57185254	57185254	+	Splice_Site	SNP	G	G	T			TCGA-DU-7019-01A-11D-2024-08	TCGA-DU-7019-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d72485-c192-4735-97fc-e46e71bc0209	f211dabd-dc6e-4168-a894-6a2c1eeb90f8	g.chr6:57185254G>T	ENST00000607273.1	+	3	241		c.e3-1		PRIM2_ENST00000389488.2_Splice_Site	NM_000947.3	NP_000938.2	P49643	PRI2_HUMAN	primase, DNA, polypeptide 2 (58kDa)						DNA replication, synthesis of RNA primer|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|nucleoplasm	4 iron, 4 sulfur cluster binding|DNA binding|DNA primase activity|metal ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(34)|prostate(6)|stomach(4)|upper_aerodigestive_tract(1)	59				Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193)		CTTTTTTTTAGTGTTAAAATC	0.328													5	14					1.23904e-05	1.26433e-05	1	1	0	T	57185254	G	T	57185254	5	4	109	1	0	0	0	0	0	0	1	0	12543	1043	36	4	160	4	PRIM2	6	57185254	Splice_Site	SNP	G	TCGA-DU-7019-01A-11D-2024-08		57185254	113929813	13	20468											
PRPS1L1	221823	broad.mit.edu	37	7	18067044	18067044	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7019-01A-11D-2024-08	TCGA-DU-7019-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d72485-c192-4735-97fc-e46e71bc0209	f211dabd-dc6e-4168-a894-6a2c1eeb90f8	g.chr7:18067044G>A	ENST00000506618.2	-	1	442	c.362C>T	c.(361-363)gCg>gTg	p.A121V		NM_175886.2	NP_787082	P21108	PRPS3_HUMAN	phosphoribosyl pyrophosphate synthetase 1-like 1	121					nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process		ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)	18	Lung NSC(10;0.0385)|all_lung(11;0.0736)					GATATGATCCGCACCTGCTAT	0.473													43	72					0	0	1	0	0	A	18067044	G	A	18067044	3	1	109	1	0	0	0	0	1	0	0	0	12631	1087	38	1	598	1	PRPS1L1	7	18067044	Missense_Mutation	SNP	G	TCGA-DU-7019-01A-11D-2024-08		18067044	141071619	14	20469											
ADAM2	2515	broad.mit.edu	37	8	39634592	39634592	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-7019-01A-11D-2024-08	TCGA-DU-7019-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d72485-c192-4735-97fc-e46e71bc0209	f211dabd-dc6e-4168-a894-6a2c1eeb90f8	g.chr8:39634592T>C	ENST00000265708.4	-	11	1083	c.980A>G	c.(979-981)aAc>aGc	p.N327S	ADAM2_ENST00000347580.4_Missense_Mutation_p.N308S|ADAM2_ENST00000521880.1_Missense_Mutation_p.N327S|ADAM2_ENST00000379853.2_Missense_Mutation_p.N201S	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2	327	Peptidase M12B.				cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		CTGGCATTTGTTAATGTCATC	0.338													3	37					0	0	1	0	0	C	39634592	T	C	39634592	3	2	109	1	0	0	0	0	1	0	0	0	240	1725	60	3	1267	3	ADAM2	8	39634592	Missense_Mutation	SNP	T	TCGA-DU-7019-01A-11D-2024-08		39634592	106729430	15	20470											
SNX16	64089	broad.mit.edu	37	8	82752142	82752144	+	In_Frame_Del	DEL	CTT	CTT	-	rs142163451		TCGA-DU-7019-01A-11D-2024-08	TCGA-DU-7019-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d72485-c192-4735-97fc-e46e71bc0209	f211dabd-dc6e-4168-a894-6a2c1eeb90f8	g.chr8:82752142_82752144delCTT	ENST00000396330.2	-	3	584_586	c.78_80delAAG	c.(76-81)agaagt>agt	p.R26del	SNX16_ENST00000353788.4_In_Frame_Del_p.R26del|SNX16_ENST00000345957.4_In_Frame_Del_p.R26del	NM_022133.3	NP_071416.2	P57768	SNX16_HUMAN	sorting nexin 16	26					cell communication|early endosome to late endosome transport|endosome to lysosome transport|protein targeting to lysosome	early endosome membrane|extrinsic to endosome membrane|late endosome membrane|lysosome	identical protein binding|phosphatidylinositol binding			large_intestine(1)|ovary(1)|pancreas(1)|skin(2)	5						AAAAGAAGAACTTCTTTGATTTC	0.389													40	153	---	---	---	---						-	82752144	CTT	-	82752142	7	5	109	1	0	1	0	1	0	0	0	0	14941	565	20	0	982	0	SNX16	8	82752142	In_Frame_Del	DEL	CTT	TCGA-DU-7019-01A-11D-2024-08	43117550	82752142	63611880	16	20471											
LRRC8A	56262	broad.mit.edu	37	9	131671134	131671134	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-7019-01A-11D-2024-08	TCGA-DU-7019-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d72485-c192-4735-97fc-e46e71bc0209	f211dabd-dc6e-4168-a894-6a2c1eeb90f8	g.chr9:131671134A>G	ENST00000259324.5	+	3	2214	c.1691A>G	c.(1690-1692)gAt>gGt	p.D564G	LRRC8A_ENST00000372599.3_Missense_Mutation_p.D564G|LRRC8A_ENST00000372600.4_Missense_Mutation_p.D564G	NM_001127244.1	NP_001120716.1	Q8IWT6	LRC8A_HUMAN	leucine rich repeat containing 8 family, member A	564					pre-B cell differentiation	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(3)	28						GTGGTCACAGATGTGGGCGTG	0.572													11	26					0	0	1	0	0	G	131671134	A	G	131671134	3	3	109	1	0	0	0	0	1	0	0	0	9066	333	12	3	1693	3	LRRC8A	9	131671134	Missense_Mutation	SNP	A	TCGA-DU-7019-01A-11D-2024-08		131671134	9542297	17	20472											
RPL7A	6130	broad.mit.edu	37	9	136216484	136216484	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-7019-01A-11D-2024-08	TCGA-DU-7019-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d72485-c192-4735-97fc-e46e71bc0209	f211dabd-dc6e-4168-a894-6a2c1eeb90f8	g.chr9:136216484C>G	ENST00000323345.6	+	3	233	c.203C>G	c.(202-204)gCc>gGc	p.A68G	RPL7A_ENST00000463740.1_3'UTR|RPL7A_ENST00000315731.4_Intron	NM_000972.2	NP_000963.1	P62424	RL7A_HUMAN	ribosomal protein L7a	68					endocrine pancreas development|ribosome biogenesis|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|membrane fraction|polysomal ribosome	RNA binding|structural constituent of ribosome			cervix(1)|endometrium(1)|kidney(1)|lung(3)|upper_aerodigestive_tract(1)	7				OV - Ovarian serous cystadenocarcinoma(145;4.93e-07)|Epithelial(140;4.09e-06)|all cancers(34;3.78e-05)		CGGCAGAGAGCCATCCTCTAT	0.552													4	60					0	0	1	0	0	G	136216484	C	G	136216484	3	3	109	1	0	0	0	0	1	0	0	0	13652	739	26	5	213	5	RPL7A	9	136216484	Missense_Mutation	SNP	C	TCGA-DU-7019-01A-11D-2024-08	4545350	136216484	4996947	18	20473											
UBE4A	9354	broad.mit.edu	37	11	118239407	118239407	+	Silent	SNP	C	C	T			TCGA-DU-7019-01A-11D-2024-08	TCGA-DU-7019-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d72485-c192-4735-97fc-e46e71bc0209	f211dabd-dc6e-4168-a894-6a2c1eeb90f8	g.chr11:118239407C>T	ENST00000252108.3	+	3	314	c.183C>T	c.(181-183)ttC>ttT	p.F61F	UBE4A_ENST00000431736.2_Silent_p.F61F	NM_001204077.1|NM_004788.3	NP_001191006.1|NP_004779.2	Q14139	UBE4A_HUMAN	ubiquitination factor E4A	61					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding			autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(7)|liver(2)|lung(14)|ovary(3)|prostate(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	56	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		TGGATGAATTCGATTACTCTG	0.433													75	157					0	0	1	0	0	T	118239407	C	T	118239407	2	4	109	1	0	0	0	0	0	0	0	1	16943	883	31	1		1	UBE4A	11	118239407	Silent	SNP	C	TCGA-DU-7019-01A-11D-2024-08		118239407	16767109	19	20474											
MAP3K12	7786	broad.mit.edu	37	12	53876125	53876127	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-DU-7019-01A-11D-2024-08	TCGA-DU-7019-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d72485-c192-4735-97fc-e46e71bc0209	f211dabd-dc6e-4168-a894-6a2c1eeb90f8	g.chr12:53876125_53876127delTCC	ENST00000267079.2	-	13	2391_2393	c.2166_2168delGGA	c.(2164-2169)gaggaa>gaa	p.722_723EE>E	MAP3K12_ENST00000547035.1_In_Frame_Del_p.755_756EE>E|MAP3K12_ENST00000547488.1_In_Frame_Del_p.755_756EE>E	NM_001193511.1|NM_006301.3	NP_001180440.1|NP_006292.3	Q12852	M3K12_HUMAN	mitogen-activated protein kinase kinase kinase 12	722	Glu-rich (acidic).				histone phosphorylation|JNK cascade|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation	cytosol|membrane fraction|plasma membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding			NS(2)|breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	37						TACCTCTCCTTCCTCCTCTTCCG	0.493													24	143	---	---	---	---						-	53876127	TCC	-	53876125	7	5	109	1	0	1	0	1	0	0	0	0	9296	1783	62	0	423	0	MAP3K12	12	53876125	In_Frame_Del	DEL	TCC	TCGA-DU-7019-01A-11D-2024-08		53876125	79975770	20	20475											
P2RX4	5025	broad.mit.edu	37	12	121670817	121670819	+	In_Frame_Del	DEL	CAT	CAT	-			TCGA-DU-7019-01A-11D-2024-08	TCGA-DU-7019-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d72485-c192-4735-97fc-e46e71bc0209	f211dabd-dc6e-4168-a894-6a2c1eeb90f8	g.chr12:121670817_121670819delCAT	ENST00000337233.4	+	11	1370_1372	c.1062_1064delCAT	c.(1060-1065)gacatc>gac	p.I356del	P2RX4_ENST00000359949.7_In_Frame_Del_p.I372del|P2RX4_ENST00000543171.1_In_Frame_Del_p.I255del	NM_001261397.1|NM_001261398.1|NM_002560.2	NP_001248326.1|NP_001248327.1|NP_002551.2	Q99571	P2RX4_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 4	356					endothelial cell activation|negative regulation of cardiac muscle hypertrophy|positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling|positive regulation of nitric oxide biosynthetic process|positive regulation of prostaglandin secretion|regulation of apoptosis|regulation of blood pressure|regulation of sodium ion transport|relaxation of cardiac muscle|response to ATP|response to fluid shear stress|sensory perception of pain|tissue homeostasis	cell junction|perinuclear region of cytoplasm	cadherin binding|copper ion binding|extracellular ATP-gated cation channel activity|protein homodimerization activity|purinergic nucleotide receptor activity|receptor binding|zinc ion binding			breast(1)|kidney(4)|large_intestine(4)|lung(7)|prostate(1)	17	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					TGCTGTGTGACATCATAGTCCTC	0.498													18	347	---	---	---	---						-	121670819	CAT	-	121670817	7	5	109	1	0	1	0	1	0	0	0	0	11389	477	17	0	1104	0	P2RX4	12	121670817	In_Frame_Del	DEL	CAT	TCGA-DU-7019-01A-11D-2024-08	67794692	121670817	12181078	21	20476											
DNAH10	196385	broad.mit.edu	37	12	124335566	124335566	+	Silent	SNP	C	C	T			TCGA-DU-7019-01A-11D-2024-08	TCGA-DU-7019-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d72485-c192-4735-97fc-e46e71bc0209	f211dabd-dc6e-4168-a894-6a2c1eeb90f8	g.chr12:124335566C>T	ENST00000409039.3	+	34	5905	c.5880C>T	c.(5878-5880)ccC>ccT	p.P1960P		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1960	AAA 1 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TGATCGTGCCCGACCTGCAGC	0.632													17	42					0	0	1	0	0	T	124335566	C	T	124335566	2	4	109	1	0	0	0	0	0	0	0	1	4626	639	23	1		1	DNAH10	12	124335566	Silent	SNP	C	TCGA-DU-7019-01A-11D-2024-08	2664749	124335566	9516329	22	20477											
TBC1D4	9882	broad.mit.edu	37	13	76055900	76055900	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7019-01A-11D-2024-08	TCGA-DU-7019-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d72485-c192-4735-97fc-e46e71bc0209	f211dabd-dc6e-4168-a894-6a2c1eeb90f8	g.chr13:76055900C>T	ENST00000377636.3	-	1	350	c.4G>A	c.(4-6)Gag>Aag	p.E2K	TBC1D4_ENST00000425511.1_5'UTR|TBC1D4_ENST00000431480.2_Missense_Mutation_p.E2K|TBC1D4_ENST00000377625.2_Missense_Mutation_p.E2K	NM_014832.2	NP_055647.2	O60343	TBCD4_HUMAN	TBC1 domain family, member 4	2						cytoplasm	Rab GTPase activator activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		CTGGGCGGCTCCATAACTCTC	0.731													5	5					0	0	1	0	0	T	76055900	C	T	76055900	3	4	109	1	0	0	0	0	1	0	0	0	15682	864	30	2	3976	2	TBC1D4	13	76055900	Missense_Mutation	SNP	C	TCGA-DU-7019-01A-11D-2024-08		76055900	39113978	23	20478											
ZKSCAN2	342357	broad.mit.edu	37	16	25251836	25251836	+	Silent	SNP	G	G	A			TCGA-DU-7019-01A-11D-2024-08	TCGA-DU-7019-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d72485-c192-4735-97fc-e46e71bc0209	f211dabd-dc6e-4168-a894-6a2c1eeb90f8	g.chr16:25251836G>A	ENST00000328086.7	-	7	3008	c.2205C>T	c.(2203-2205)gcC>gcT	p.A735A		NM_001012981.4	NP_001012999.3	Q63HK3	ZKSC2_HUMAN	zinc finger with KRAB and SCAN domains 2	735					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36				GBM - Glioblastoma multiforme(48;0.0378)		GATGCACAACGGCTTTCCCTA	0.473													26	50					0	0	1	0	0	A	25251836	G	A	25251836	2	1	109	1	0	0	0	0	0	0	0	1	17745	1103	39	1		1	ZKSCAN2	16	25251836	Silent	SNP	G	TCGA-DU-7019-01A-11D-2024-08		25251836	65102917	24	20479											
OR3A2	4995	broad.mit.edu	37	17	3181606	3181606	+	Silent	SNP	G	G	A			TCGA-DU-7019-01A-11D-2024-08	TCGA-DU-7019-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d72485-c192-4735-97fc-e46e71bc0209	f211dabd-dc6e-4168-a894-6a2c1eeb90f8	g.chr17:3181606G>A	ENST00000408891.2	-	1	662	c.624C>T	c.(622-624)ctC>ctT	p.L208L		NM_002551.3	NP_002542.3	P47893	OR3A2_HUMAN	olfactory receptor, family 3, subfamily A, member 2	208					sensory perception of smell	integral to plasma membrane	olfactory receptor activity			ovary(1)	1						CCACAGCAAAGAGCAGCAGCT	0.537													38	59					0	0	1	0	0	A	3181606	G	A	3181606	2	1	109	1	0	0	0	0	0	0	0	1	11086	929	33	2		2	OR3A2	17	3181606	Silent	SNP	G	TCGA-DU-7019-01A-11D-2024-08		3181606	78013604	25	20480											
TRPV3	162514	broad.mit.edu	37	17	3458099	3458100	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-DU-7019-01A-11D-2024-08	TCGA-DU-7019-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d72485-c192-4735-97fc-e46e71bc0209	f211dabd-dc6e-4168-a894-6a2c1eeb90f8	g.chr17:3458099_3458100delCT	ENST00000301365.4	-	2	176_177	c.45_46delAG	c.(43-48)agagttfs	p.RV15fs	TRPV3_ENST00000572519.1_Frame_Shift_Del_p.RV15fs|TRPV3_ENST00000576742.1_Frame_Shift_Del_p.RV15fs			Q8NET8	TRPV3_HUMAN	transient receptor potential cation channel, subfamily V, member 3	15						integral to membrane	calcium channel activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(12)|ovary(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	35					Menthol(DB00825)	GGGGCAGCAACTCTCTTGCCCA	0.619													7	47	---	---	---	---						-	3458100	CT	-	3458099	7	5	109	1	0	1	0	1	0	0	0	0	16658	565	20	0	2394	0	TRPV3	17	3458099	Frame_Shift_Del	DEL	CT	TCGA-DU-7019-01A-11D-2024-08	276493	3458099	77737111	26	20481											
TP53	7157	broad.mit.edu	37	17	7578406	7578406	+	Missense_Mutation	SNP	C	C	T	rs28934578		TCGA-DU-7019-01A-11D-2024-08	TCGA-DU-7019-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d72485-c192-4735-97fc-e46e71bc0209	f211dabd-dc6e-4168-a894-6a2c1eeb90f8	g.chr17:7578406C>T	ENST00000420246.2	-	5	656	c.524G>A	c.(523-525)cGc>cAc	p.R175H	TP53_ENST00000359597.4_Missense_Mutation_p.R175H|TP53_ENST00000445888.2_Missense_Mutation_p.R175H|TP53_ENST00000269305.4_Missense_Mutation_p.R175H|TP53_ENST00000455263.2_Missense_Mutation_p.R175H|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000413465.2_Missense_Mutation_p.R175H	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	175	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> C (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; dbSNP:rs28934578).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> 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.R175H(847)|p.R43H(36)|p.R82H(36)|p.R175L(19)|p.0?(8)|p.R175P(6)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*5(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(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)		GTGGGGGCAGCGCCTCACAAC	0.652	R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY)	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)			53	19					0	0	1	0	0	T	7578406	C	T	7578406	3	4	109	1	0	0	0	0	1	0	0	0	16442	768	27	1	774	1	TP53	17	7578406	Missense_Mutation	SNP	C	TCGA-DU-7019-01A-11D-2024-08	4120307	7578406	73616804	27	20482											
WRAP53	55135	broad.mit.edu	37	17	7592042	7592042	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-7019-01A-11D-2024-08	TCGA-DU-7019-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d72485-c192-4735-97fc-e46e71bc0209	f211dabd-dc6e-4168-a894-6a2c1eeb90f8	g.chr17:7592042T>C	ENST00000316024.5	+	1	2424	c.76T>C	c.(76-78)Tct>Cct	p.S26P	WRAP53_ENST00000396463.2_Missense_Mutation_p.S26P|WRAP53_ENST00000431639.2_Missense_Mutation_p.S26P|WRAP53_ENST00000457584.2_Missense_Mutation_p.S26P|WRAP53_ENST00000534050.1_Missense_Mutation_p.S26P			Q9BUR4	WAP53_HUMAN	WD repeat containing, antisense to TP53	26	Pro-rich.				positive regulation of telomerase activity|telomere formation via telomerase	Cajal body|cytoplasm|telomerase holoenzyme complex	protein binding|RNA binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(2)	18						AGCCCATCCTTCTCCCCACGC	0.587													19	59					0	0	1	0	0	C	7592042	T	C	7592042	3	2	109	1	0	0	0	0	1	0	0	0	17460	1783	62	3	78	3	WRAP53	17	7592042	Missense_Mutation	SNP	T	TCGA-DU-7019-01A-11D-2024-08	13636	7592042	73603168	28	20483											
HAP1	9001	broad.mit.edu	37	17	39881249	39881249	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DU-7019-01A-11D-2024-08	TCGA-DU-7019-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d72485-c192-4735-97fc-e46e71bc0209	f211dabd-dc6e-4168-a894-6a2c1eeb90f8	g.chr17:39881249delC	ENST00000393939.2	-	10	1498	c.1489delG	c.(1489-1491)gctfs	p.A497fs	HAP1_ENST00000347901.4_Frame_Shift_Del_p.A522fs|JUP_ENST00000540235.1_Intron|HAP1_ENST00000341193.5_Frame_Shift_Del_p.A505fs|HAP1_ENST00000310778.5_Frame_Shift_Del_p.A574fs			P54257	HAP1_HUMAN	huntingtin-associated protein 1	557	Glu-rich.				brain development|protein localization|synaptic transmission	actin cytoskeleton	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(4)|skin(1)	21		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.0677)			CCTTCCTCAGCCGGCACCTTC	0.627													84	328	---	---	---	---						-	39881249	C	-	39881249	7	5	109	1	0	1	0	1	0	0	0	0	6994	739	26	0	299	0	HAP1	17	39881249	Frame_Shift_Del	DEL	C	TCGA-DU-7019-01A-11D-2024-08	32289207	39881249	41313961	29	20484											
CACNA1G	8913	broad.mit.edu	37	17	48687284	48687284	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-7019-01A-11D-2024-08	TCGA-DU-7019-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d72485-c192-4735-97fc-e46e71bc0209	f211dabd-dc6e-4168-a894-6a2c1eeb90f8	g.chr17:48687284A>C	ENST00000359106.5	+	26	4747	c.4747A>C	c.(4747-4749)Agc>Cgc	p.S1583R	CACNA1G_ENST00000514181.1_Intron|CACNA1G_ENST00000505165.1_Missense_Mutation_p.S1583R|CACNA1G_ENST00000512389.1_Intron|CACNA1G_ENST00000510366.1_Intron|CACNA1G_ENST00000354983.4_Intron|CACNA1G_ENST00000507510.2_Missense_Mutation_p.S1583R|CACNA1G_ENST00000515411.1_Intron|CACNA1G_ENST00000442258.2_Intron|CACNA1G_ENST00000502264.1_Missense_Mutation_p.S1560R|CACNA1G_ENST00000503485.1_Missense_Mutation_p.S1549R|CACNA1G_ENST00000514717.1_Missense_Mutation_p.S1526R|CACNA1G_ENST00000510115.1_Intron|CACNA1G_ENST00000513689.2_Intron|CACNA1G_ENST00000429973.2_Intron|CACNA1G_ENST00000352832.5_Intron|CACNA1G_ENST00000514079.1_Missense_Mutation_p.S1590R|CACNA1G_ENST00000513964.1_Intron|CACNA1G_ENST00000507609.1_Missense_Mutation_p.S1583R|CACNA1G_ENST00000515165.1_Missense_Mutation_p.S1583R|CACNA1G_ENST00000507336.1_Intron|CACNA1G_ENST00000358244.5_Intron|CACNA1G_ENST00000515765.1_Intron|CACNA1G_ENST00000360761.4_Missense_Mutation_p.S1560R|CACNA1G_ENST00000507896.1_Intron	NM_018896.4	NP_061496.2	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	1583					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	CAGCTCAGCCAGCGCTGCGTC	0.587													3	34					0	0	1	0	0	C	48687284	A	C	48687284	3	2	109	1	0	0	0	0	1	0	0	0	2562	188	7	5	5116	5	CACNA1G	17	48687284	Missense_Mutation	SNP	A	TCGA-DU-7019-01A-11D-2024-08	8806035	48687284	32507926	30	20485											
SUMO2	6613	broad.mit.edu	37	17	73177151	73177151	+	Splice_Site	SNP	C	C	G			TCGA-DU-7019-01A-11D-2024-08	TCGA-DU-7019-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d72485-c192-4735-97fc-e46e71bc0209	f211dabd-dc6e-4168-a894-6a2c1eeb90f8	g.chr17:73177151C>G	ENST00000420826.2	-	2	302		c.e2+1		SUMO2_ENST00000314523.7_Splice_Site|SUMO2_ENST00000578238.1_Splice_Site	NM_006937.3	NP_008868.3	P61956	SUMO2_HUMAN	small ubiquitin-like modifier 2						positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation	nucleus	ubiquitin protein ligase binding			NS(1)	1	all_lung(278;0.14)|Lung NSC(278;0.168)					GAATTCCTCACCTGTCGTTCA	0.363													15	41					0	0	1	0	0	G	73177151	C	G	73177151	5	3	109	1	0	0	0	0	0	0	1	0	15444	521	18	5	145	5	SUMO2	17	73177151	Splice_Site	SNP	C	TCGA-DU-7019-01A-11D-2024-08	24489867	73177151	8018059	31	20486											
C19orf26	255057	broad.mit.edu	37	19	1231248	1231248	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7019-01A-11D-2024-08	TCGA-DU-7019-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d72485-c192-4735-97fc-e46e71bc0209	f211dabd-dc6e-4168-a894-6a2c1eeb90f8	g.chr19:1231248G>A	ENST00000590083.1	-	9	1298	c.1006C>T	c.(1006-1008)Cgg>Tgg	p.R336W	C19orf26_ENST00000215376.6_Missense_Mutation_p.R330W|C19orf26_ENST00000382477.2_Missense_Mutation_p.R356W			Q8N350	DOS_HUMAN	chromosome 19 open reading frame 26	356						integral to membrane				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	9		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|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)		GCCCGCTGCCGCTGGAAGTGG	0.667										HNSCC(14;0.022)			31	54					0	0	1	0	0	A	1231248	G	A	1231248	3	1	109	1	0	0	0	0	1	0	0	0	1928	1086	38	1	359	1	C19orf26	19	1231248	Missense_Mutation	SNP	G	TCGA-DU-7019-01A-11D-2024-08		1231248	57897735	32	20487											
SMARCA4	6597	broad.mit.edu	37	19	11106926	11106928	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-DU-7019-01A-11D-2024-08	TCGA-DU-7019-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d72485-c192-4735-97fc-e46e71bc0209	f211dabd-dc6e-4168-a894-6a2c1eeb90f8	g.chr19:11106926_11106928delAGA	ENST00000358026.2	+	10	1915_1917	c.1631_1633delAGA	c.(1630-1635)cagaag>cag	p.K546del	SMARCA4_ENST00000590574.1_In_Frame_Del_p.K546del|SMARCA4_ENST00000429416.3_In_Frame_Del_p.K546del|SMARCA4_ENST00000413806.3_In_Frame_Del_p.K546del|SMARCA4_ENST00000450717.3_In_Frame_Del_p.K546del|SMARCA4_ENST00000589677.1_In_Frame_Del_p.K546del|SMARCA4_ENST00000444061.3_In_Frame_Del_p.K546del|SMARCA4_ENST00000541122.2_In_Frame_Del_p.K546del|SMARCA4_ENST00000344626.4_In_Frame_Del_p.K546del	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	546					chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				CTCATCGACCAGAAGAAGGACAA	0.576			"F, N, Mis"		NSCLC								52	164	---	---	---	---						-	11106928	AGA	-	11106926	7	5	109	1	0	1	0	1	0	0	0	0	14824	188	7	0	1665	0	SMARCA4	19	11106926	In_Frame_Del	DEL	AGA	TCGA-DU-7019-01A-11D-2024-08	9875678	11106926	48022057	33	20488											
NWD1	284434	broad.mit.edu	37	19	16860740	16860740	+	Silent	SNP	C	C	T			TCGA-DU-7019-01A-11D-2024-08	TCGA-DU-7019-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d72485-c192-4735-97fc-e46e71bc0209	f211dabd-dc6e-4168-a894-6a2c1eeb90f8	g.chr19:16860740C>T	ENST00000524140.2	+	6	1705	c.1287C>T	c.(1285-1287)ttC>ttT	p.F429F	NWD1_ENST00000523826.1_Silent_p.F223F|NWD1_ENST00000552788.1_Silent_p.F429F|NWD1_ENST00000549814.1_Silent_p.F429F|NWD1_ENST00000339803.6_Silent_p.F294F|NWD1_ENST00000379808.3_Silent_p.F429F	NM_001007525.3	NP_001007526.3	Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	429	NACHT.						ATP binding			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						GCAGAAACTTCGAGTCTCTCG	0.617													16	131					0	0	1	0	0	T	16860740	C	T	16860740	2	4	109	1	0	0	0	0	0	0	0	1	10829	883	31	1		1	NWD1	19	16860740	Silent	SNP	C	TCGA-DU-7019-01A-11D-2024-08	5753814	16860740	42268243	34	20489											
PVR	5817	broad.mit.edu	37	19	45153147	45153147	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7019-01A-11D-2024-08	TCGA-DU-7019-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d72485-c192-4735-97fc-e46e71bc0209	f211dabd-dc6e-4168-a894-6a2c1eeb90f8	g.chr19:45153147G>A	ENST00000425690.3	+	3	793	c.494G>A	c.(493-495)cGc>cAc	p.R165H	PVR_ENST00000344956.4_Missense_Mutation_p.R165H|PVR_ENST00000406449.4_Missense_Mutation_p.R165H|PVR_ENST00000403059.4_Missense_Mutation_p.R165H|CTB-171A8.1_ENST00000590796.1_RNA	NM_006505.3	NP_006496.3	P15151	PVR_HUMAN	poliovirus receptor	165	Ig-like C2-type 1.				adherens junction organization|cell adhesion|cell junction assembly|interspecies interaction between organisms|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|susceptibility to natural killer cell mediated cytotoxicity|susceptibility to T cell mediated cytotoxicity	cell junction|cell surface|cytoplasm|extracellular space|integral to membrane|nucleus	cell adhesion molecule binding|receptor activity			large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	6	Lung NSC(12;0.00608)|all_lung(12;0.0148)	Medulloblastoma(540;0.0425)|Ovarian(192;0.0728)|Prostate(69;0.081)|all_neural(266;0.112)		Epithelial(262;0.000601)		CCCATGGCCCGCTGCGTCTCC	0.612													20	137					0	0	1	0	0	A	45153147	G	A	45153147	3	1	109	1	0	0	0	0	1	0	0	0	12889	1087	38	1	504	1	PVR	19	45153147	Missense_Mutation	SNP	G	TCGA-DU-7019-01A-11D-2024-08	28292407	45153147	13975836	35	20490											
ZC3H4	23211	broad.mit.edu	37	19	47575123	47575123	+	Silent	SNP	G	G	A			TCGA-DU-7019-01A-11D-2024-08	TCGA-DU-7019-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d72485-c192-4735-97fc-e46e71bc0209	f211dabd-dc6e-4168-a894-6a2c1eeb90f8	g.chr19:47575123G>A	ENST00000253048.5	-	13	2095	c.2058C>T	c.(2056-2058)ccC>ccT	p.P686P	ZC3H4_ENST00000594019.1_Intron	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	686	Pro-rich.						nucleic acid binding|zinc ion binding			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		GCGGGATAGGGGGCATCATTC	0.622													14	27					0	0	1	0	0	A	47575123	G	A	47575123	2	1	109	1	0	0	0	0	0	0	0	1	17629	1219	43	2		2	ZC3H4	19	47575123	Silent	SNP	G	TCGA-DU-7019-01A-11D-2024-08	2421976	47575123	11553860	36	20491											
LILRA1	11024	broad.mit.edu	37	19	55106273	55106273	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7019-01A-11D-2024-08	TCGA-DU-7019-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d72485-c192-4735-97fc-e46e71bc0209	f211dabd-dc6e-4168-a894-6a2c1eeb90f8	g.chr19:55106273C>T	ENST00000453777.1	+	4	384	c.214C>T	c.(214-216)Cgg>Tgg	p.R72W	LILRB1_ENST00000396321.2_Intron|LILRA1_ENST00000473156.1_3'UTR|LILRB1_ENST00000448689.1_Intron|LILRB1_ENST00000418536.2_Intron|LILRA1_ENST00000251372.3_Missense_Mutation_p.R72W	NM_001278318.1	NP_001265247.1	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1	72	Ig-like C2-type 1.				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		CTGGATTACACGGATCCCACA	0.562													47	80					0	0	1	0	0	T	55106273	C	T	55106273	3	4	109	1	0	0	0	0	1	0	0	0	8824	527	19	1	224	1	LILRA1	19	55106273	Missense_Mutation	SNP	C	TCGA-DU-7019-01A-11D-2024-08	7531150	55106273	4022710	37	20492											
SLC24A3	57419	broad.mit.edu	37	20	19677486	19677486	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7019-01A-11D-2024-08	TCGA-DU-7019-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d72485-c192-4735-97fc-e46e71bc0209	f211dabd-dc6e-4168-a894-6a2c1eeb90f8	g.chr20:19677486G>A	ENST00000328041.6	+	14	1734	c.1537G>A	c.(1537-1539)Ggg>Agg	p.G513R	RP4-718D20.3_ENST00000609846.1_RNA	NM_020689.3	NP_065740.2	Q9HC58	NCKX3_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 3	513						integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						CGTCATCATGGGGATCACCTT	0.592													14	28					0	0	1	0	0	A	19677486	G	A	19677486	3	1	109	1	0	0	0	0	1	0	0	0	14522	1232	43	2	1591	2	SLC24A3	20	19677486	Missense_Mutation	SNP	G	TCGA-DU-7019-01A-11D-2024-08		19677486	43348034	38	20493											
KCNG1	3755	broad.mit.edu	37	20	49626525	49626527	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-DU-7019-01A-11D-2024-08	TCGA-DU-7019-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d72485-c192-4735-97fc-e46e71bc0209	f211dabd-dc6e-4168-a894-6a2c1eeb90f8	g.chr20:49626525_49626527delGAA	ENST00000371571.4	-	2	634_636	c.349_351delTTC	c.(349-351)ttcdel	p.F117del	RP5-955M13.4_ENST00000424566.1_RNA|KCNG1_ENST00000396017.3_In_Frame_Del_p.F117del	NM_002237.3	NP_002228.2	Q9UIX4	KCNG1_HUMAN	potassium voltage-gated channel, subfamily G, member 1	117						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						GGTTGCGGTCGAAGAAGAACTCG	0.645													13	50	---	---	---	---						-	49626527	GAA	-	49626525	7	5	109	1	0	1	0	1	0	0	0	0	8071	1049	37	0	1198	0	KCNG1	20	49626525	In_Frame_Del	DEL	GAA	TCGA-DU-7019-01A-11D-2024-08	29949039	49626525	13398995	39	20494											
KRTAP19-2	337969	broad.mit.edu	37	21	31859568	31859568	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7019-01A-11D-2024-08	TCGA-DU-7019-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d72485-c192-4735-97fc-e46e71bc0209	f211dabd-dc6e-4168-a894-6a2c1eeb90f8	g.chr21:31859568C>T	ENST00000334055.3	-	1	187	c.100G>A	c.(100-102)Gga>Aga	p.G34R		NM_181608.1	NP_853639.1	Q3LHN2	KR192_HUMAN	keratin associated protein 19-2	34						intermediate filament				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5						CAGCCATCTCCACAGCCTCTG	0.512													8	146					0	0	1	0	0	T	31859568	C	T	31859568	3	4	109	1	0	0	0	0	1	0	0	0	8572	603	21	2	60	2	KRTAP19-2	21	31859568	Missense_Mutation	SNP	C	TCGA-DU-7019-01A-11D-2024-08		31859568	16270327	40	20495											
KCNJ15	3772	broad.mit.edu	37	21	39671533	39671533	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7019-01A-11D-2024-08	TCGA-DU-7019-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d72485-c192-4735-97fc-e46e71bc0209	f211dabd-dc6e-4168-a894-6a2c1eeb90f8	g.chr21:39671533C>T	ENST00000328656.4	+	4	653	c.350C>T	c.(349-351)gCg>gTg	p.A117V	KCNJ15_ENST00000398930.1_Missense_Mutation_p.A117V|KCNJ15_ENST00000398934.1_Missense_Mutation_p.A117V|KCNJ15_ENST00000398932.1_Missense_Mutation_p.A117V|KCNJ15_ENST00000398938.2_Missense_Mutation_p.A117V	NM_001276437.1|NM_001276438.1|NM_001276439.1|NM_002243.3	NP_001263366.1|NP_001263367.1|NP_001263368.1|NP_002234.2	Q99712	IRK15_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 15						synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	24						CTCACTGGGGCGTTTCTCTTT	0.493													10	107					0	0	1	0	0	T	39671533	C	T	39671533	3	4	109	1	0	0	0	0	1	0	0	0	8093	768	27	1	352	1	KCNJ15	21	39671533	Missense_Mutation	SNP	C	TCGA-DU-7019-01A-11D-2024-08	7811965	39671533	8458362	41	20496											
SMARCB1	6598	broad.mit.edu	37	22	24175836	24175837	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-DU-7019-01A-11D-2024-08	TCGA-DU-7019-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d72485-c192-4735-97fc-e46e71bc0209	f211dabd-dc6e-4168-a894-6a2c1eeb90f8	g.chr22:24175836_24175837delCT	ENST00000344921.6	+	8	1298_1299	c.1091_1092delCT	c.(1090-1092)actfs	p.T364fs	SMARCB1_ENST00000407422.3_Frame_Shift_Del_p.T346fs|SMARCB1_ENST00000407082.3_Frame_Shift_Del_p.T309fs|SMARCB1_ENST00000263121.7_Frame_Shift_Del_p.T355fs			Q12824	SNF5_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1	355					cell cycle|chromatin remodeling|DNA integration|interspecies interaction between organisms|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|retroviral genome replication|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleolus|nucleoplasm|SWI/SNF complex	p53 binding	p.?(2)|p.L266_*386del(1)		bone(4)|central_nervous_system(198)|endometrium(4)|haematopoietic_and_lymphoid_tissue(25)|kidney(3)|large_intestine(5)|liver(2)|lung(5)|meninges(5)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|soft_tissue(194)	458		Medulloblastoma(6;2.2e-09)|all_neural(6;2.73e-05)				CTGCTGGAGACTCTGACAGACG	0.634			"D, N, F, S"		malignant rhabdoid	malignant rhabdoid							11	123	---	---	---	---						-	24175837	CT	-	24175836	7	5	109	1	0	1	0	1	0	0	0	0	14828	565	20	0	1094	0	SMARCB1	22	24175836	Frame_Shift_Del	DEL	CT	TCGA-DU-7019-01A-11D-2024-08		24175836	27128730	42	20497											
RASL10A	10633	broad.mit.edu	37	22	29709887	29709887	+	Silent	SNP	G	G	A			TCGA-DU-7019-01A-11D-2024-08	TCGA-DU-7019-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d72485-c192-4735-97fc-e46e71bc0209	f211dabd-dc6e-4168-a894-6a2c1eeb90f8	g.chr22:29709887G>A	ENST00000401450.3	-	2	754	c.309C>T	c.(307-309)taC>taT	p.Y103Y	RASL10A_ENST00000216101.6_Silent_p.Y103Y|RASL10A_ENST00000608559.1_5'UTR			Q92737	RSLAA_HUMAN	RAS-like, family 10, member A	103	Small GTPase-like.				small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity			NS(1)	1						GGGCCTTCACGTAGTCGAAAC	0.652													4	34					0	0	1	0	0	A	29709887	G	A	29709887	2	1	109	1	0	0	0	0	0	0	0	1	13131	1140	40	1		1	RASL10A	22	29709887	Silent	SNP	G	TCGA-DU-7019-01A-11D-2024-08	5534051	29709887	21594679	43	20498											
TST	7263	broad.mit.edu	37	22	37407129	37407129	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-7019-01A-11D-2024-08	TCGA-DU-7019-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d72485-c192-4735-97fc-e46e71bc0209	f211dabd-dc6e-4168-a894-6a2c1eeb90f8	g.chr22:37407129T>G	ENST00000403892.3	-	2	1567	c.833A>C	c.(832-834)gAg>gCg	p.E278A	TST_ENST00000249042.3_Missense_Mutation_p.E278A	NM_001270483.1	NP_001257412.1	Q16762	THTR_HUMAN	thiosulfate sulfurtransferase (rhodanese)	278	Rhodanese 2.				cyanate catabolic process|rRNA transport	mitochondrial matrix|plasma membrane	5S rRNA binding|thiosulfate sulfurtransferase activity			kidney(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)|urinary_tract(1)	7						GCGAAACCACTCGGACCAGGA	0.637													4	75					0	0	1	0	0	G	37407129	T	G	37407129	3	3	109	1	0	0	0	0	1	0	0	0	16734	1551	54	5	64	5	TST	22	37407129	Missense_Mutation	SNP	T	TCGA-DU-7019-01A-11D-2024-08	7697242	37407129	13897437	44	20499											
EIF3L	51386	broad.mit.edu	37	22	38270462	38270462	+	Silent	SNP	C	C	T			TCGA-DU-7019-01A-11D-2024-08	TCGA-DU-7019-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d72485-c192-4735-97fc-e46e71bc0209	f211dabd-dc6e-4168-a894-6a2c1eeb90f8	g.chr22:38270462C>T	ENST00000412331.2	+	9	1419	c.837C>T	c.(835-837)cgC>cgT	p.R279R	EIF3L_ENST00000406934.1_Silent_p.R181R|EIF3L_ENST00000381683.6_Silent_p.R231R	NM_016091.3	NP_057175.1	Q9Y262	EIF3L_HUMAN	eukaryotic translation initiation factor 3, subunit L	279						eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			kidney(2)|large_intestine(3)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						GGCTTCTCCGCCTGCACTCCC	0.552													34	37					0	0	1	0	0	T	38270462	C	T	38270462	2	4	109	1	0	0	0	0	0	0	0	1	5050	726	26	2		2	EIF3L	22	38270462	Silent	SNP	C	TCGA-DU-7019-01A-11D-2024-08	863333	38270462	13034104	45	20500											
MXRA5	25878	broad.mit.edu	37	X	3239837	3239837	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-7019-01A-11D-2024-08	TCGA-DU-7019-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d72485-c192-4735-97fc-e46e71bc0209	f211dabd-dc6e-4168-a894-6a2c1eeb90f8	g.chrX:3239837T>C	ENST00000217939.6	-	5	4043	c.3889A>G	c.(3889-3891)Aca>Gca	p.T1297A		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	1297						extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CTGGTGGTTGTCATGTAATCT	0.358													4	66					0	0	1	0	0	C	3239837	T	C	3239837	3	2	109	1	0	0	0	0	1	0	0	0	10051	1667	58	3	4609	3	MXRA5	23	3239837	Missense_Mutation	SNP	T	TCGA-DU-7019-01A-11D-2024-08		3239837	152030723	46	20501											
CNKSR2	22866	broad.mit.edu	37	X	21534627	21534627	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-7019-01A-11D-2024-08	TCGA-DU-7019-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d72485-c192-4735-97fc-e46e71bc0209	f211dabd-dc6e-4168-a894-6a2c1eeb90f8	g.chrX:21534627G>T	ENST00000425654.2	+	9	1315	c.835G>T	c.(835-837)Gtg>Ttg	p.V279L	CNKSR2_ENST00000279451.4_Missense_Mutation_p.V279L|CNKSR2_ENST00000379510.3_Missense_Mutation_p.V279L|CNKSR2_ENST00000543067.1_Intron	NM_001168647.1	NP_001162118.1	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras 2	279	PDZ.				regulation of signal transduction	cytoplasm|membrane	protein binding			breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						GAAAAATTTGGTGAATGCACT	0.398													23	9					5.35356e-11	5.57662e-11	1	1	0	T	21534627	G	T	21534627	3	4	109	1	0	0	0	0	1	0	0	0	3630	1261	44	5	869	5	CNKSR2	23	21534627	Missense_Mutation	SNP	G	TCGA-DU-7019-01A-11D-2024-08	18294790	21534627	133735933	47	20502											
SGIP1	84251	broad.mit.edu	37	1	67142747	67142747	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7290-01A-11D-2024-08	TCGA-DU-7290-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78e1afce-55f4-4924-9fa3-4e5227c2818c	a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62	g.chr1:67142747C>T	ENST00000371037.4	+	13	784	c.707C>T	c.(706-708)tCg>tTg	p.S236L	SGIP1_ENST00000468286.1_3'UTR|SGIP1_ENST00000237247.6_Missense_Mutation_p.S240L|SGIP1_ENST00000371039.1_Missense_Mutation_p.S204L|SGIP1_ENST00000371035.3_Missense_Mutation_p.S193L|SGIP1_ENST00000371036.3_Missense_Mutation_p.S203L	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1	236	Pro-rich.				positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	microtubule binding|phospholipid binding|SH3 domain binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						AGCATGGAGTCGCCAAAGTTA	0.403													28	79					0	0	0.706142	0	0	T	67142747	C	T	67142747	3	4	110	1	0	0	0	0	1	0	0	0	14260	893	31	1	757	1	SGIP1	1	67142747	Missense_Mutation	SNP	C	TCGA-DU-7290-01A-11D-2024-08		67142747	182107874	1	20503											
TMEM206	55248	broad.mit.edu	37	1	212553255	212553255	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-7290-01A-11D-2024-08	TCGA-DU-7290-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78e1afce-55f4-4924-9fa3-4e5227c2818c	a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62	g.chr1:212553255A>G	ENST00000261455.4	-	5	757	c.620T>C	c.(619-621)tTc>tCc	p.F207S	TMEM206_ENST00000535273.1_Missense_Mutation_p.F268S	NM_018252.2	NP_060722.2	Q9H813	TM206_HUMAN	transmembrane protein 206	207						integral to membrane				breast(1)|kidney(3)|large_intestine(4)|lung(6)|prostate(1)|skin(2)	17				all cancers(67;0.012)|OV - Ovarian serous cystadenocarcinoma(81;0.0121)|GBM - Glioblastoma multiforme(131;0.0377)|Epithelial(68;0.148)		GAACTCCTGGAAAGAAGAGAA	0.498													28	84					0	0	0.779181	0	0	G	212553255	A	G	212553255	3	3	110	1	0	0	0	0	1	0	0	0	16191	246	9	3	448	3	TMEM206	1	212553255	Missense_Mutation	SNP	A	TCGA-DU-7290-01A-11D-2024-08	145410508	212553255	36697366	2	20504											
SFXN5	94097	broad.mit.edu	37	2	73227600	73227600	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DU-7290-01A-11D-2024-08	TCGA-DU-7290-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78e1afce-55f4-4924-9fa3-4e5227c2818c	a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62	g.chr2:73227600delT	ENST00000272433.2	-	8	558	c.428delA	c.(427-429)cacfs	p.H143fs	SFXN5_ENST00000474528.1_5'UTR|SFXN5_ENST00000410065.1_Frame_Shift_Del_p.H143fs	NM_144579.2	NP_653180.1	Q8TD22	SFXN5_HUMAN	sideroflexin 5	143					iron ion homeostasis	integral to membrane	cation transmembrane transporter activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)	9						ACAGGCATTGTGGCTCTGGTT	0.587													2	4	---	---	---	---						-	73227600	T	-	73227600	7	5	110	1	0	1	0	1	0	0	0	0	14252	1696	59	0	622	0	SFXN5	2	73227600	Frame_Shift_Del	DEL	T	TCGA-DU-7290-01A-11D-2024-08		73227600	169971773	3	20505											
TTN	7273	broad.mit.edu	37	2	179637874	179637874	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7290-01A-11D-2024-08	TCGA-DU-7290-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78e1afce-55f4-4924-9fa3-4e5227c2818c	a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62	g.chr2:179637874G>A	ENST00000589042.1	-	33	8041	c.7817C>T	c.(7816-7818)gCg>gTg	p.A2606V	TTN_ENST00000360870.5_Missense_Mutation_p.A2606V|TTN-AS1_ENST00000584485.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.A2560V|TTN_ENST00000342992.6_Missense_Mutation_p.A2606V|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.A2560V|TTN-AS1_ENST00000610005.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.A2560V|TTN_ENST00000591111.1_Missense_Mutation_p.A2606V	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	2340							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATTTTCTCCCGCGTAAAATGT	0.289													13	36					0	0	0.457914	0	0	A	179637874	G	A	179637874	3	1	110	1	0	0	0	0	1	0	0	0	16797	1087	38	1	103491	1	TTN	2	179637874	Missense_Mutation	SNP	G	TCGA-DU-7290-01A-11D-2024-08	106410274	179637874	63561499	4	20506											
CELSR3	1951	broad.mit.edu	37	3	48698353	48698353	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7290-01A-11D-2024-08	TCGA-DU-7290-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78e1afce-55f4-4924-9fa3-4e5227c2818c	a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62	g.chr3:48698353C>T	ENST00000544264.1	-	1	1995	c.1715G>A	c.(1714-1716)cGg>cAg	p.R572Q	CELSR3_ENST00000164024.4_Missense_Mutation_p.R572Q			Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	572	Cadherin 3.				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GTCCTTGTCCCGGTCAGTGGC	0.607													8	28					0	0	0.307466	0	0	T	48698353	C	T	48698353	3	4	110	1	0	0	0	0	1	0	0	0	3245	652	23	1	8363	1	CELSR3	3	48698353	Missense_Mutation	SNP	C	TCGA-DU-7290-01A-11D-2024-08		48698353	149324077	5	20507											
OTOP1	133060	broad.mit.edu	37	4	4214703	4214703	+	Silent	SNP	G	G	A			TCGA-DU-7290-01A-11D-2024-08	TCGA-DU-7290-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78e1afce-55f4-4924-9fa3-4e5227c2818c	a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62	g.chr4:4214703G>A	ENST00000296358.4	-	2	456	c.432C>T	c.(430-432)acC>acT	p.T144T		NM_177998.1	NP_819056.1	Q7RTM1	OTOP1_HUMAN	otopetrin 1	144					biomineral tissue development	extracellular space|integral to membrane				NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CCAGGATGACGGTAATGACTG	0.388													16	33					0	0	0.520397	0	0	A	4214703	G	A	4214703	2	1	110	1	0	0	0	0	0	0	0	1	11352	1103	39	1		1	OTOP1	4	4214703	Silent	SNP	G	TCGA-DU-7290-01A-11D-2024-08		4214703	186939573	6	20508											
FBXL7	23194	broad.mit.edu	37	5	15936897	15936897	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-7290-01A-11D-2024-08	TCGA-DU-7290-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78e1afce-55f4-4924-9fa3-4e5227c2818c	a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62	g.chr5:15936897T>A	ENST00000504595.1	+	4	1559	c.1078T>A	c.(1078-1080)Tgc>Agc	p.C360S	FBXL7_ENST00000329673.7_Missense_Mutation_p.C348S|FBXL7_ENST00000510662.1_Missense_Mutation_p.C313S	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	360					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						CATCGCGCACTGCGGCCGGGT	0.677													4	9					0	0	0.150653	0	0	A	15936897	T	A	15936897	3	1	110	1	0	0	0	0	1	0	0	0	5757	1580	55	5	1092	5	FBXL7	5	15936897	Missense_Mutation	SNP	T	TCGA-DU-7290-01A-11D-2024-08		15936897	164978363	7	20509											
DMXL1	1657	broad.mit.edu	37	5	118485663	118485663	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-7290-01A-11D-2024-08	TCGA-DU-7290-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78e1afce-55f4-4924-9fa3-4e5227c2818c	a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62	g.chr5:118485663A>T	ENST00000311085.8	+	18	4221	c.4141A>T	c.(4141-4143)Agc>Tgc	p.S1381C	DMXL1_ENST00000539542.1_Missense_Mutation_p.S1381C	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	1381										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		TGCTAGTGGAAGCACTACCAG	0.453													17	43					0	0	0.520397	0	0	T	118485663	A	T	118485663	3	4	110	1	0	0	0	0	1	0	0	0	4622	72	3	5	4211	5	DMXL1	5	118485663	Missense_Mutation	SNP	A	TCGA-DU-7290-01A-11D-2024-08	102548766	118485663	62429597	8	20510											
FBN2	2201	broad.mit.edu	37	5	127800434	127800434	+	Missense_Mutation	SNP	C	C	T	rs148971572	byFrequency	TCGA-DU-7290-01A-11D-2024-08	TCGA-DU-7290-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78e1afce-55f4-4924-9fa3-4e5227c2818c	a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62	g.chr5:127800434C>T	ENST00000508053.1	-	12	1783	c.809G>A	c.(808-810)cGc>cAc	p.R270H	FBN2_ENST00000508989.1_Missense_Mutation_p.R237H|FBN2_ENST00000262464.4_Missense_Mutation_p.R270H			P35556	FBN2_HUMAN	fibrillin 2	270					bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		AGCTCCAGTGCGGATGTTGGG	0.592													32	59					0	0	0.769981	0	0	T	127800434	C	T	127800434	3	4	110	1	0	0	0	0	1	0	0	0	5736	768	27	1	8169	1	FBN2	5	127800434	Missense_Mutation	SNP	C	TCGA-DU-7290-01A-11D-2024-08	9314771	127800434	53114826	9	20511											
HIST1H2AC	8334	broad.mit.edu	37	6	26124693	26124693	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7290-01A-11D-2024-08	TCGA-DU-7290-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78e1afce-55f4-4924-9fa3-4e5227c2818c	a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62	g.chr6:26124693G>A	ENST00000602637.1	+	1	263	c.233G>A	c.(232-234)cGc>cAc	p.R78H	HIST1H2AC_ENST00000377791.2_Missense_Mutation_p.R78H			Q93077	H2A1C_HUMAN	histone cluster 1, H2ac	78					nucleosome assembly	nucleosome|nucleus	DNA binding			NS(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|lung(5)	12						AAGAAGACTCGCATCATCCCG	0.652													42	74					0	0	0.870114	0	0	A	26124693	G	A	26124693	3	1	110	1	0	0	0	0	1	0	0	0	7171	1087	38	1	235	1	HIST1H2AC	6	26124693	Missense_Mutation	SNP	G	TCGA-DU-7290-01A-11D-2024-08		26124693	144990374	10	20512											
OR2B3	442184	broad.mit.edu	37	6	29054524	29054524	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7290-01A-11D-2024-08	TCGA-DU-7290-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78e1afce-55f4-4924-9fa3-4e5227c2818c	a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62	g.chr6:29054524G>A	ENST00000377173.2	-	1	566	c.502C>T	c.(502-504)Cgc>Tgc	p.R168C		NM_001005226.2	NP_001005226.1			olfactory receptor, family 2, subfamily B, member 3											breast(1)|endometrium(1)|kidney(2)|lung(17)|prostate(1)|skin(2)	24						TGACCACAGCGTGGCATGTTA	0.488													15	32					0	0	0.457914	0	0	A	29054524	G	A	29054524	3	1	110	1	0	0	0	0	1	0	0	0	11038	1145	40	1	443	1	OR2B3	6	29054524	Missense_Mutation	SNP	G	TCGA-DU-7290-01A-11D-2024-08	2929831	29054524	142060543	11	20513											
NOTCH4	4855	broad.mit.edu	37	6	32180628	32180628	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DU-7290-01A-11D-2024-08	TCGA-DU-7290-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78e1afce-55f4-4924-9fa3-4e5227c2818c	a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62	g.chr6:32180628delG	ENST00000375023.3	-	16	2637	c.2499delC	c.(2497-2499)cccfs	p.P833fs	NOTCH4_ENST00000465528.1_Intron	NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	833	EGF-like 21.				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						TGTAGCCAGTGGGGCAGAGGC	0.622													2	4	---	---	---	---						-	32180628	G	-	32180628	7	5	110	1	0	1	0	1	0	0	0	0	10598	1335	47	0	3572	0	NOTCH4	6	32180628	Frame_Shift_Del	DEL	G	TCGA-DU-7290-01A-11D-2024-08	3126104	32180628	138934439	12	20514											
SYNE1	23345	broad.mit.edu	37	6	152783987	152783987	+	Silent	SNP	T	T	C			TCGA-DU-7290-01A-11D-2024-08	TCGA-DU-7290-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78e1afce-55f4-4924-9fa3-4e5227c2818c	a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62	g.chr6:152783987T>C	ENST00000367255.5	-	20	2737	c.2136A>G	c.(2134-2136)gaA>gaG	p.E712E	SYNE1_ENST00000466159.2_Silent_p.E712E|SYNE1_ENST00000495090.2_Silent_p.E279E|SYNE1_ENST00000413186.2_Silent_p.E712E|SYNE1_ENST00000341594.5_Silent_p.E719E|SYNE1_ENST00000448038.1_Silent_p.E719E|SYNE1_ENST00000265368.4_Silent_p.E712E|SYNE1_ENST00000423061.1_Silent_p.E719E|SYNE1_ENST00000367253.4_Silent_p.E712E|SYNE1_ENST00000367248.3_Silent_p.E702E	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	712					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		AGTCTGTGTATTCCTTCTTCA	0.433										HNSCC(10;0.0054)			14	60					0	0	0.479597	0	0	C	152783987	T	C	152783987	2	2	110	1	0	0	0	0	0	0	0	1	15502	1490	52	3		3	SYNE1	6	152783987	Silent	SNP	T	TCGA-DU-7290-01A-11D-2024-08	120603359	152783987	18331080	13	20515											
ARID1B	57492	broad.mit.edu	37	6	157454205	157454205	+	Nonsense_Mutation	SNP	T	T	A			TCGA-DU-7290-01A-11D-2024-08	TCGA-DU-7290-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78e1afce-55f4-4924-9fa3-4e5227c2818c	a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62	g.chr6:157454205T>A	ENST00000346085.5	+	8	2416	c.2415T>A	c.(2413-2415)taT>taA	p.Y805*	ARID1B_ENST00000275248.4_Nonsense_Mutation_p.Y734*|ARID1B_ENST00000367148.1_Nonsense_Mutation_p.Y792*|ARID1B_ENST00000350026.5_Nonsense_Mutation_p.Y792*	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	792					chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		TGGCTCAGTATGGACCTCAAC	0.463													25	36					0	0	0.706142	0	0	A	157454205	T	A	157454205	4	1	110	1	0	0	0	0	0	1	0	0	911	1471	51	4	2445	4	ARID1B	6	157454205	Nonsense_Mutation	SNP	T	TCGA-DU-7290-01A-11D-2024-08	4670218	157454205	13660862	14	20516											
COBL	23242	broad.mit.edu	37	7	51287614	51287614	+	Silent	SNP	T	T	G	rs145775268	by1000genomes	TCGA-DU-7290-01A-11D-2024-08	TCGA-DU-7290-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78e1afce-55f4-4924-9fa3-4e5227c2818c	a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62	g.chr7:51287614T>G	ENST00000395542.2	-	2	253	c.69A>C	c.(67-69)ccA>ccC	p.P23P	COBL_ENST00000395540.2_Silent_p.P23P|COBL_ENST00000441453.1_Silent_p.P23P|COBL_ENST00000265136.7_Silent_p.P23P			O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	23	Poly-Pro.									NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					TTCCAGGAGGTGGGGGAGCAC	0.552													6	36					0	0	0.307466	0	0	G	51287614	T	G	51287614	2	3	110	1	0	0	0	0	0	0	0	1	3676	1683	59	5		5	COBL	7	51287614	Silent	SNP	T	TCGA-DU-7290-01A-11D-2024-08		51287614	107851049	15	20517											
PTPRZ1	5803	broad.mit.edu	37	7	121684517	121684517	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-7290-01A-11D-2024-08	TCGA-DU-7290-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78e1afce-55f4-4924-9fa3-4e5227c2818c	a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62	g.chr7:121684517A>G	ENST00000393386.2	+	23	6390	c.5979A>G	c.(5977-5979)atA>atG	p.I1993M	PTPRZ1_ENST00000449182.1_Missense_Mutation_p.I1126M	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	1993					central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						TTGAGGCCATACTTAGTAAAG	0.393													32	87					0	0	0.788014	0	0	G	121684517	A	G	121684517	3	3	110	1	0	0	0	0	1	0	0	0	12866	381	14	3	6069	3	PTPRZ1	7	121684517	Missense_Mutation	SNP	A	TCGA-DU-7290-01A-11D-2024-08	70396903	121684517	37454146	16	20518											
GDF6	392255	broad.mit.edu	37	8	97157718	97157718	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-7290-01A-11D-2024-08	TCGA-DU-7290-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78e1afce-55f4-4924-9fa3-4e5227c2818c	a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62	g.chr8:97157718C>G	ENST00000287020.5	-	2	540	c.441G>C	c.(439-441)aaG>aaC	p.K147N		NM_001001557.2	NP_001001557.1	Q6KF10	GDF6_HUMAN	growth differentiation factor 6	147					activin receptor signaling pathway|BMP signaling pathway|growth|pathway-restricted SMAD protein phosphorylation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			breast(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	27	Breast(36;2.67e-05)					CAAACAAATACTTCTGTCTCC	0.562													13	29					0	0	0.479597	0	0	G	97157718	C	G	97157718	3	3	110	1	0	0	0	0	1	0	0	0	6359	564	20	4	930	4	GDF6	8	97157718	Missense_Mutation	SNP	C	TCGA-DU-7290-01A-11D-2024-08		97157718	49206304	17	20519											
GLIS3	169792	broad.mit.edu	37	9	4118007	4118007	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7290-01A-11D-2024-08	TCGA-DU-7290-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78e1afce-55f4-4924-9fa3-4e5227c2818c	a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62	g.chr9:4118007C>T	ENST00000324333.10	-	3	1199	c.1006G>A	c.(1006-1008)Ggg>Agg	p.G336R	GLIS3_ENST00000381971.3_Missense_Mutation_p.G491R	NM_152629.3	NP_689842.3	Q8NEA6	GLIS3_HUMAN	GLIS family zinc finger 3	336					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)		TCCATCTCCCCGTCGTCGTCC	0.692													6	58					0	0	0.217242	0	0	T	4118007	C	T	4118007	3	4	110	1	0	0	0	0	1	0	0	0	6489	652	23	1	1353	1	GLIS3	9	4118007	Missense_Mutation	SNP	C	TCGA-DU-7290-01A-11D-2024-08		4118007	137095424	18	20520											
PGM5	5239	broad.mit.edu	37	9	71098810	71098810	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7290-01A-11D-2024-08	TCGA-DU-7290-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78e1afce-55f4-4924-9fa3-4e5227c2818c	a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62	g.chr9:71098810C>T	ENST00000396396.1	+	9	1554	c.1325C>T	c.(1324-1326)aCg>aTg	p.T442M		NM_021965.3	NP_068800.2	Q15124	PGM5_HUMAN	phosphoglucomutase 5	442					cell adhesion|cellular calcium ion homeostasis|glucose metabolic process	costamere|dystrophin-associated glycoprotein complex|focal adhesion|intercalated disc|internal side of plasma membrane|sarcolemma|spot adherens junction|stress fiber|Z disc	intramolecular transferase activity, phosphotransferases|magnesium ion binding|structural molecule activity			endometrium(5)|kidney(1)|large_intestine(5)|liver(2)|lung(15)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	34						GATCCCAAGACGACATATTAT	0.512													10	44					0	0	0.361761	0	0	T	71098810	C	T	71098810	3	4	110	1	0	0	0	0	1	0	0	0	11849	536	19	1	1359	1	PGM5	9	71098810	Missense_Mutation	SNP	C	TCGA-DU-7290-01A-11D-2024-08	66980803	71098810	70114621	19	20521											
OR1L8	138881	broad.mit.edu	37	9	125330525	125330525	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7290-01A-11D-2024-08	TCGA-DU-7290-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78e1afce-55f4-4924-9fa3-4e5227c2818c	a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62	g.chr9:125330525C>T	ENST00000304865.2	-	1	313	c.232G>A	c.(232-234)Gtt>Att	p.V78I		NM_001004454.1	NP_001004454.1	Q8NGR8	OR1L8_HUMAN	olfactory receptor, family 1, subfamily L, member 8	78					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						TTGGGGACAACGCTTGTTGTA	0.453													23	44					0	0	0.624587	0	0	T	125330525	C	T	125330525	3	4	110	1	0	0	0	0	1	0	0	0	11015	536	19	1	701	1	OR1L8	9	125330525	Missense_Mutation	SNP	C	TCGA-DU-7290-01A-11D-2024-08	54231715	125330525	15882906	20	20522											
RET	5979	broad.mit.edu	37	10	43597996	43597996	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7290-01A-11D-2024-08	TCGA-DU-7290-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78e1afce-55f4-4924-9fa3-4e5227c2818c	a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62	g.chr10:43597996C>T	ENST00000355710.3	+	3	776	c.544C>T	c.(544-546)Cca>Tca	p.P182S	RET_ENST00000340058.5_Missense_Mutation_p.P182S	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	182	Cadherin.				homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Sunitinib(DB01268)	GAACCGACCCCCAGGCACCTT	0.627		1	"T, Mis, N, F"	"H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"	"medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"	"medullary thyroid,  papillary thyroid, pheochromocytoma"	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma				23	18					0	0	0.624587	0	0	T	43597996	C	T	43597996	3	4	110	1	0	0	0	0	1	0	0	0	13287	623	22	2	554	2	RET	10	43597996	Missense_Mutation	SNP	C	TCGA-DU-7290-01A-11D-2024-08		43597996	91936751	21	20523											
PTEN	5728	broad.mit.edu	37	10	89692830	89692830	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7290-01A-11D-2024-08	TCGA-DU-7290-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78e1afce-55f4-4924-9fa3-4e5227c2818c	a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62	g.chr10:89692830G>A	ENST00000371953.3	+	5	1671	c.314G>A	c.(313-315)tGt>tAt	p.C105Y		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	105	Phosphatase tensin-type.		C -> F (in BZS; loss of phosphatase activity towards Ins(1,3,4,5)P4).|C -> Y (in BZS).		activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.C105F(6)|p.?(5)|p.R55fs*1(5)|p.C105S(3)|p.Y27fs*1(2)|p.C105Y(2)|p.C105fs*1(1)|p.F56fs*2(1)|p.P103fs*3(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		AAACCCTTTTGTGAAGATCTT	0.373		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			48	45					0	0	0.870114	0	0	A	89692830	G	A	89692830	3	1	110	1	0	0	0	0	1	0	0	0	12787	1377	48	2	332	2	PTEN	10	89692830	Missense_Mutation	SNP	G	TCGA-DU-7290-01A-11D-2024-08	46094834	89692830	45841917	22	20524											
PNLIPRP2	5408	broad.mit.edu	37	10	118396277	118396278	+	RNA	INS	-	-	T	rs148140777	by1000genomes	TCGA-DU-7290-01A-11D-2024-08	TCGA-DU-7290-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78e1afce-55f4-4924-9fa3-4e5227c2818c	a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62	g.chr10:118396277_118396278insT	ENST00000537242.1	+	0	962				PNLIPRP2_ENST00000298771.7_RNA|PNLIPRP2_ENST00000433618.4_RNA	NM_005396.4	NP_005387.2	P54317	LIPR2_HUMAN	pancreatic lipase-related protein 2						galactolipid catabolic process|lipid digestion|phospholipid catabolic process|triglyceride metabolic process	extracellular space	acylglycerol lipase activity|calcium ion binding|galactolipase activity|phospholipase activity|triglyceride lipase activity			endometrium(1)|large_intestine(1)|lung(11)|prostate(3)	16				all cancers(201;0.015)		GACAAATTATGGTTTTTTTTTT	0.421													3	4	---	---	---	---						T	118396278	-	T	118396277	6	5	110	0	1	1	1	0	0	0	0	0	12199	1363	47	0		0	PNLIPRP2	10	118396277	RNA	INS	-	TCGA-DU-7290-01A-11D-2024-08	28703447	118396277	17138470	23	20525											
EFEMP2	30008	broad.mit.edu	37	11	65635447	65635447	+	Missense_Mutation	SNP	G	G	A	rs142826827		TCGA-DU-7290-01A-11D-2024-08	TCGA-DU-7290-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78e1afce-55f4-4924-9fa3-4e5227c2818c	a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62	g.chr11:65635447G>A	ENST00000307998.6	-	10	1285	c.1055C>T	c.(1054-1056)tCg>tTg	p.S352L	EFEMP2_ENST00000528176.1_Missense_Mutation_p.S352L	NM_016938.4	NP_058634.4	O95967	FBLN4_HUMAN	EGF containing fibulin-like extracellular matrix protein 2	352					blood coagulation	basement membrane|membrane	calcium ion binding|extracellular matrix structural constituent|protein binding|transmembrane receptor activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21				READ - Rectum adenocarcinoma(159;0.169)		GCTCCGCTCCGAGGTGATGGT	0.627													7	97					0	0	0.27861	0	0	A	65635447	G	A	65635447	3	1	110	1	0	0	0	0	1	0	0	0	4968	1059	37	1	284	1	EFEMP2	11	65635447	Missense_Mutation	SNP	G	TCGA-DU-7290-01A-11D-2024-08		65635447	69371069	24	20526											
AMICA1	120425	broad.mit.edu	37	11	118074285	118074285	+	Silent	SNP	C	C	G			TCGA-DU-7290-01A-11D-2024-08	TCGA-DU-7290-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78e1afce-55f4-4924-9fa3-4e5227c2818c	a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62	g.chr11:118074285C>G	ENST00000292067.7	-	5	1041	c.600G>C	c.(598-600)ggG>ggC	p.G200G	AMICA1_ENST00000356289.5_Silent_p.G210G|AMICA1_ENST00000533261.1_Silent_p.G199G|AMICA1_ENST00000526620.1_Silent_p.G171G	NM_153206.2	NP_694938.2	Q86YT9	JAML1_HUMAN	adhesion molecule, interacts with CXADR antigen 1	210	Ig-like V-type 2.				blood coagulation|cell adhesion|leukocyte migration|regulation of immune response	cell junction|integral to membrane				central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|stomach(2)	20	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		GGAAAATGTCCCCCACCAGGT	0.507													20	123					0	0	0.592651	0	0	G	118074285	C	G	118074285	2	3	110	1	0	0	0	0	0	0	0	1	570	610	22	5		5	AMICA1	11	118074285	Silent	SNP	C	TCGA-DU-7290-01A-11D-2024-08	52438838	118074285	16932231	25	20527											
STAB2	55576	broad.mit.edu	37	12	103984727	103984727	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7290-01A-11D-2024-08	TCGA-DU-7290-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78e1afce-55f4-4924-9fa3-4e5227c2818c	a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62	g.chr12:103984727C>T	ENST00000388887.2	+	2	338	c.134C>T	c.(133-135)tCc>tTc	p.S45F		NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	45					angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						GAGTGCCGATCCTGCGCTCTC	0.423													24	71					0	0	0.654019	0	0	T	103984727	C	T	103984727	3	4	110	1	0	0	0	0	1	0	0	0	15294	855	30	2	140	2	STAB2	12	103984727	Missense_Mutation	SNP	C	TCGA-DU-7290-01A-11D-2024-08		103984727	29867168	26	20528											
RB1	5925	broad.mit.edu	37	13	48919319	48919320	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-DU-7290-01A-11D-2024-08	TCGA-DU-7290-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78e1afce-55f4-4924-9fa3-4e5227c2818c	a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62	g.chr13:48919319_48919320delTT	ENST00000267163.4	+	4	622_623	c.484_485delTT	c.(484-486)ttcfs	p.F162fs		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	162					androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.0?(15)|p.?(6)|p.F162fs*13(1)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GTTTGCACTCTTCAGCAAATTG	0.287		6	"D, Mis, N, F, S"		"retinoblastoma, sarcoma, breast, small cell lung"	"retinoblastoma, sarcoma, breast, small cell lung"			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			39	48	---	---	---	---						-	48919320	TT	-	48919319	7	5	110	1	0	1	0	1	0	0	0	0	13150	1609	56	0	498	0	RB1	13	48919319	Frame_Shift_Del	DEL	TT	TCGA-DU-7290-01A-11D-2024-08		48919319	66250559	27	20529											
OLFM4	10562	broad.mit.edu	37	13	53603144	53603144	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7290-01A-11D-2024-08	TCGA-DU-7290-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78e1afce-55f4-4924-9fa3-4e5227c2818c	a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62	g.chr13:53603144G>A	ENST00000219022.2	+	1	251	c.173G>A	c.(172-174)cGc>cAc	p.R58H		NM_006418.4	NP_006409.3	Q6UX06	OLFM4_HUMAN	olfactomedin 4	58	Ser-rich.				cell adhesion	extracellular space				breast(2)|endometrium(4)|kidney(4)|large_intestine(5)|lung(20)|skin(3)|urinary_tract(1)	39		Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.13e-08)		agctccagccgcagcTTAGGC	0.582													4	61					0	0	0.150653	0	0	A	53603144	G	A	53603144	3	1	110	1	0	0	0	0	1	0	0	0	10903	1087	38	1	175	1	OLFM4	13	53603144	Missense_Mutation	SNP	G	TCGA-DU-7290-01A-11D-2024-08	4683825	53603144	61566734	28	20530											
PRPF8	10594	broad.mit.edu	37	17	1585131	1585131	+	Silent	SNP	C	C	T	rs143150486		TCGA-DU-7290-01A-11D-2024-08	TCGA-DU-7290-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78e1afce-55f4-4924-9fa3-4e5227c2818c	a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62	g.chr17:1585131C>T	ENST00000572621.1	-	4	901	c.636G>A	c.(634-636)ccG>ccA	p.P212P	PRPF8_ENST00000304992.6_Silent_p.P212P			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	212						catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		TGTCCCTCAACGGCTGGTGGT	0.542													8	136					0	0	0.27861	0	0	T	1585131	C	T	1585131	2	4	110	1	0	0	0	0	0	0	0	1	12627	523	19	1		1	PRPF8	17	1585131	Silent	SNP	C	TCGA-DU-7290-01A-11D-2024-08		1585131	79610079	29	20531											
EFNB3	1949	broad.mit.edu	37	17	7611424	7611424	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7290-01A-11D-2024-08	TCGA-DU-7290-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78e1afce-55f4-4924-9fa3-4e5227c2818c	a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62	g.chr17:7611424C>T	ENST00000226091.2	+	2	668	c.271C>T	c.(271-273)Cgc>Tgc	p.R91C		NM_001406.3	NP_001397.1	Q15768	EFNB3_HUMAN	ephrin-B3	91					cell-cell signaling|interspecies interaction between organisms	integral to plasma membrane	ephrin receptor binding|transmembrane-ephrin receptor activity	p.R91C(1)		large_intestine(3)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	8		all_cancers(10;1.14e-06)|Prostate(122;0.081)				TCAGGGCCGGCGCTGTGAGGC	0.602													10	113					0	0	0.361761	0	0	T	7611424	C	T	7611424	3	4	110	1	0	0	0	0	1	0	0	0	4983	768	27	1	277	1	EFNB3	17	7611424	Missense_Mutation	SNP	C	TCGA-DU-7290-01A-11D-2024-08	6026293	7611424	73583786	30	20532											
MYH13	8735	broad.mit.edu	37	17	10214497	10214497	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-7290-01A-11D-2024-08	TCGA-DU-7290-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78e1afce-55f4-4924-9fa3-4e5227c2818c	a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62	g.chr17:10214497G>T	ENST00000418404.3	-	32	4742	c.4579C>A	c.(4579-4581)Ctt>Att	p.L1527I	MYH13_ENST00000252172.4_Missense_Mutation_p.L1527I|RP11-401O9.4_ENST00000609088.1_RNA			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1527					muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						GCTTCCTGAAGATTCTTGCCA	0.443													16	49					2.48551e-13	2.85833e-13	0.520397	1	0	T	10214497	G	T	10214497	3	4	110	1	0	0	0	0	1	0	0	0	10080	942	33	4	1273	4	MYH13	17	10214497	Missense_Mutation	SNP	G	TCGA-DU-7290-01A-11D-2024-08	2603073	10214497	70980713	31	20533											
PRKCA	5578	broad.mit.edu	37	17	64785022	64785022	+	Silent	SNP	G	G	A	rs2228945	byFrequency	TCGA-DU-7290-01A-11D-2024-08	TCGA-DU-7290-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78e1afce-55f4-4924-9fa3-4e5227c2818c	a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62	g.chr17:64785022G>A	ENST00000413366.3	+	16	1805	c.1779G>A	c.(1777-1779)gaG>gaA	p.E593E		NM_002737.2	NP_002728	P17252	KPCA_HUMAN	protein kinase C, alpha	593	Protein kinase.				activation of phospholipase C activity|energy reserve metabolic process|induction of apoptosis by extracellular signals|intracellular signal transduction|mRNA metabolic process|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of blood vessel endothelial cell migration|regulation of insulin secretion|response to interleukin-1|synaptic transmission	cytosol|endoplasmic reticulum|membrane fraction|nucleoplasm|plasma membrane	ATP binding|enzyme binding|histone kinase activity (H3-T6 specific)|protein kinase C activity|zinc ion binding	p.E593E(1)		breast(3)|central_nervous_system(4)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38			BRCA - Breast invasive adenocarcinoma(6;4.68e-09)		Phosphatidylserine(DB00144)|Vitamin E(DB00163)	ACGTGAGAGAGCATGCCTTCT	0.537													4	73					0	0	0.184627	0	0	A	64785022	G	A	64785022	2	1	110	1	0	0	0	0	0	0	0	1	12559	962	34	2		2	PRKCA	17	64785022	Silent	SNP	G	TCGA-DU-7290-01A-11D-2024-08	54570525	64785022	16410188	32	20534											
ZNF519	162655	broad.mit.edu	37	18	14106371	14106371	+	Silent	SNP	C	C	T			TCGA-DU-7290-01A-11D-2024-08	TCGA-DU-7290-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78e1afce-55f4-4924-9fa3-4e5227c2818c	a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62	g.chr18:14106371C>T	ENST00000590202.1	-	3	320	c.168G>A	c.(166-168)gaG>gaA	p.E56E	ZNF519_ENST00000589498.1_Intron|ZNF519_ENST00000589203.1_Intron	NM_145287.3	NP_660330.2	Q8TB69	ZN519_HUMAN	zinc finger protein 519	56	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	18						GTATGCCTTGCTCTGGTAAAA	0.333													15	28					0	0	0.479597	0	0	T	14106371	C	T	14106371	2	4	110	1	0	0	0	0	0	0	0	1	18021	796	28	2		2	ZNF519	18	14106371	Silent	SNP	C	TCGA-DU-7290-01A-11D-2024-08		14106371	63970877	33	20535											
ICAM5	7087	broad.mit.edu	37	19	10401990	10401990	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-7290-01A-11D-2024-08	TCGA-DU-7290-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78e1afce-55f4-4924-9fa3-4e5227c2818c	a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62	g.chr19:10401990C>G	ENST00000221980.4	+	2	388	c.325C>G	c.(325-327)Cag>Gag	p.Q109E	ICAM5_ENST00000586004.1_3'UTR	NM_003259.3	NP_003250.3	Q9UMF0	ICAM5_HUMAN	intercellular adhesion molecule 5, telencephalin	109	Ig-like C2-type 1.				cell-cell adhesion	integral to plasma membrane				breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)			GCGCACACTACAGGCGCGTGG	0.682													27	56					0	0	0.729181	0	0	G	10401990	C	G	10401990	3	3	110	1	0	0	0	0	1	0	0	0	7527	479	17	5	331	5	ICAM5	19	10401990	Missense_Mutation	SNP	C	TCGA-DU-7290-01A-11D-2024-08		10401990	48726993	34	20536											
ZNF429	353088	broad.mit.edu	37	19	21720782	21720782	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-7290-01A-11D-2024-08	TCGA-DU-7290-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78e1afce-55f4-4924-9fa3-4e5227c2818c	a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62	g.chr19:21720782C>A	ENST00000358491.4	+	4	2135	c.1927C>A	c.(1927-1929)Cat>Aat	p.H643N	ZNF429_ENST00000597078.1_Intron	NM_001001415.2	NP_001001415.2	Q86V71	ZN429_HUMAN	zinc finger protein 429	643					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(13)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	34						TAAGAAAATTCATAGGATggg	0.458													7	50					0.0381472	0.0411275	0.27861	1	0	A	21720782	C	A	21720782	3	1	110	1	0	0	0	0	1	0	0	0	17959	826	29	5	1941	5	ZNF429	19	21720782	Missense_Mutation	SNP	C	TCGA-DU-7290-01A-11D-2024-08	11318792	21720782	37408201	35	20537											
PSG9	5678	broad.mit.edu	37	19	43766011	43766011	+	Splice_Site	SNP	C	C	T			TCGA-DU-7290-01A-11D-2024-08	TCGA-DU-7290-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78e1afce-55f4-4924-9fa3-4e5227c2818c	a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62	g.chr19:43766011C>T	ENST00000244293.7	-	3	776		c.e3+1		PSG9_ENST00000596730.1_Intron|PSG9_ENST00000418820.2_Intron|PSG9_ENST00000291752.5_Intron|PSG9_ENST00000270077.3_Splice_Site|PSG9_ENST00000593948.1_Splice_Site|PSG9_ENST00000443718.3_Intron			Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 9						female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Prostate(69;0.00682)				AAGATACTCACGGAGGAGATT	0.522													86	160					0	0	0.870114	0	0	T	43766011	C	T	43766011	5	4	110	1	0	0	0	0	0	0	1	0	12711	550	19	1	586	1	PSG9	19	43766011	Splice_Site	SNP	C	TCGA-DU-7290-01A-11D-2024-08	22045229	43766011	15362972	36	20538											
MXRA5	25878	broad.mit.edu	37	X	3229518	3229518	+	Silent	SNP	C	C	T			TCGA-DU-7290-01A-11D-2024-08	TCGA-DU-7290-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78e1afce-55f4-4924-9fa3-4e5227c2818c	a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62	g.chrX:3229518C>T	ENST00000217939.6	-	7	6880	c.6726G>A	c.(6724-6726)ccG>ccA	p.P2242P		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2242	Ig-like C2-type 7.					extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CAATCTTGGCCGGTTTCATCA	0.517													30	104					0	0	0.760397	0	0	T	3229518	C	T	3229518	2	4	110	1	0	0	0	0	0	0	0	1	10051	639	23	1		1	MXRA5	23	3229518	Silent	SNP	C	TCGA-DU-7290-01A-11D-2024-08		3229518	152041042	37	20539											
MED12	9968	broad.mit.edu	37	X	70351408	70351408	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-7290-01A-11D-2024-08	TCGA-DU-7290-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78e1afce-55f4-4924-9fa3-4e5227c2818c	a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62	g.chrX:70351408C>A	ENST00000333646.6	+	29	4255	c.4056C>A	c.(4054-4056)gaC>gaA	p.D1352E	MED12_ENST00000374080.3_Missense_Mutation_p.D1352E|MED12_ENST00000374102.1_Missense_Mutation_p.D1352E	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN	mediator complex subunit 12	1352					androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					AGAACTTGGACCAGTGGACCA	0.542			"M, S"		uterine leiomyoma		Opitz-Kaveggia Syndrome						6	49					8.12818e-05	9.04588e-05	0.248553	1	0	A	70351408	C	A	70351408	3	1	110	1	0	0	0	0	1	0	0	0	9478	506	18	5	4170	5	MED12	23	70351408	Missense_Mutation	SNP	C	TCGA-DU-7290-01A-11D-2024-08	67121890	70351408	84919152	38	20540											
IL1RAPL2	26280	broad.mit.edu	37	X	105011344	105011344	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-7290-01A-11D-2024-08	TCGA-DU-7290-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78e1afce-55f4-4924-9fa3-4e5227c2818c	a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62	g.chrX:105011344T>G	ENST00000372582.1	+	11	2507	c.1751T>G	c.(1750-1752)aTa>aGa	p.I584R	IL1RAPL2_ENST00000344799.4_Missense_Mutation_p.I584R	NM_017416.1	NP_059112.1	Q9NP60	IRPL2_HUMAN	interleukin 1 receptor accessory protein-like 2	584					central nervous system development|innate immune response	integral to membrane	interleukin-1, Type II, blocking receptor activity			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						CTCCAGCCTATACCCTCTATT	0.463													30	74					0	0	0.769981	0	0	G	105011344	T	G	105011344	3	3	110	1	0	0	0	0	1	0	0	0	7706	1406	49	4	1789	4	IL1RAPL2	23	105011344	Missense_Mutation	SNP	T	TCGA-DU-7290-01A-11D-2024-08	34659936	105011344	50259216	39	20541											
ARHGEF6	9459	broad.mit.edu	37	X	135862897	135862897	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-7290-01A-11D-2024-08	TCGA-DU-7290-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78e1afce-55f4-4924-9fa3-4e5227c2818c	a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62	g.chrX:135862897T>A	ENST00000250617.6	-	1	1350	c.145A>T	c.(145-147)Atg>Ttg	p.M49L		NM_004840.2	NP_004831.1	Q15052	ARHG6_HUMAN	Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6	49	CH.				apoptosis|cell junction assembly|induction of apoptosis by extracellular signals|JNK cascade|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(1)|lung(14)|prostate(1)	38	Acute lymphoblastic leukemia(192;0.000127)					GAGCCAGGCATGAGTCTGTTG	0.418													65	151					0	0	0.870114	0	0	A	135862897	T	A	135862897	3	1	110	1	0	0	0	0	1	0	0	0	907	1464	51	4	2273	4	ARHGEF6	23	135862897	Missense_Mutation	SNP	T	TCGA-DU-7290-01A-11D-2024-08	30851553	135862897	19407663	40	20542											
ARHGEF16	27237	broad.mit.edu	37	1	3394457	3394457	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr1:3394457G>A	ENST00000378378.4	+	11	1897	c.1492G>A	c.(1492-1494)Gcc>Acc	p.A498T	ARHGEF16_ENST00000378371.2_Missense_Mutation_p.A210T|ARHGEF16_ENST00000413250.2_Missense_Mutation_p.A202T|ARHGEF16_ENST00000378373.1_Missense_Mutation_p.A210T	NM_014448.3	NP_055263.2	Q5VV41	ARHGG_HUMAN	Rho guanine nucleotide exchange factor (GEF) 16	498					activation of Cdc42 GTPase activity|activation of Rac GTPase activity|apoptosis|cell chemotaxis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|small GTPase mediated signal transduction	cytosol	PDZ domain binding|receptor tyrosine kinase binding|Rho GTPase binding|Rho guanyl-nucleotide exchange factor activity			lung(6)|ovary(1)	7	all_cancers(77;0.00276)|all_epithelial(69;0.00102)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.101)	all_epithelial(116;7.14e-21)|all_lung(118;2.24e-08)|Lung NSC(185;3.55e-06)|Breast(487;0.000765)|Renal(390;0.00121)|Hepatocellular(190;0.0046)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.211)		Epithelial(90;8.62e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.62e-22)|GBM - Glioblastoma multiforme(42;2.49e-12)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000681)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)		ACTGATCTCTGCCTCCCGGTG	0.622													20	51					0	0	0.624587	0	0	A	3394457	G	A	3394457	3	1	111	1	0	0	0	0	1	0	0	0	896	1319	46	2	1530	2	ARHGEF16	1	3394457	Missense_Mutation	SNP	G	TCGA-DU-7292-01A-11D-2024-08		3394457	245856164	1	20543											
ADCY10	55811	broad.mit.edu	37	1	167791265	167791265	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr1:167791265A>T	ENST00000367848.1	-	30	4504	c.4007T>A	c.(4006-4008)aTc>aAc	p.I1336N	ADCY10_ENST00000367851.4_Missense_Mutation_p.I1428N|ADCY10_ENST00000545172.1_Missense_Mutation_p.I1275N			Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	1428					intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						TTGTTACCAGATAGCTACAGA	0.353													14	34					0	0	0.520397	0	0	T	167791265	A	T	167791265	3	4	111	1	0	0	0	0	1	0	0	0	292	333	12	4	565	4	ADCY10	1	167791265	Missense_Mutation	SNP	A	TCGA-DU-7292-01A-11D-2024-08	164396808	167791265	81459356	2	20544											
TNNI1	7135	broad.mit.edu	37	1	201384346	201384346	+	Silent	SNP	G	G	A			TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr1:201384346G>A	ENST00000361379.4	-	4	144	c.52C>T	c.(52-54)Ctg>Ttg	p.L18L	TNNI1_ENST00000336092.4_Silent_p.L18L|TNNI1_ENST00000367312.1_Silent_p.L18L|TNNI1_ENST00000555948.1_Silent_p.L18L	NM_003281.3	NP_003272.3	P19237	TNNI1_HUMAN	troponin I type 1 (skeletal, slow)	18	Involved in binding TNC.				muscle filament sliding|regulation of striated muscle contraction	cytosol|troponin complex	actin binding|tropomyosin binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|skin(1)	8						CTCACCTTCAGCAAGAGTTTG	0.582													7	23					0	0	0.27861	0	0	A	201384346	G	A	201384346	2	1	111	1	0	0	0	0	0	0	0	1	16386	962	34	2		2	TNNI1	1	201384346	Silent	SNP	G	TCGA-DU-7292-01A-11D-2024-08	33593081	201384346	47866275	3	20545											
REN	5972	broad.mit.edu	37	1	204135375	204135377	+	In_Frame_Del	DEL	AGC	AGC	-	rs142739309		TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr1:204135375_204135377delAGC	ENST00000367195.2	-	1	88_90	c.45_47delGCT	c.(43-48)ctgctc>ctc	p.15_16LL>L	REN_ENST00000272190.8_In_Frame_Del_p.15_16LL>L			P00797	RENI_HUMAN	renin	15					angiotensin maturation|regulation of MAPKKK cascade	extracellular space|membrane	aspartic-type endopeptidase activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(4)|urinary_tract(1)	19	all_cancers(21;0.00965)|Breast(84;0.116)|all_epithelial(62;0.157)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)		Aliskiren(DB01258)|Remikiren(DB00212)	GGAGCCCCAGAGCAGCAGCAGCA	0.581													9	1700	---	---	---	---						-	204135377	AGC	-	204135375	7	5	111	1	0	1	0	1	0	0	0	0	13276	304	11	0	1213	0	REN	1	204135375	In_Frame_Del	DEL	AGC	TCGA-DU-7292-01A-11D-2024-08	2751029	204135375	45115246	4	20546											
HGD	3081	broad.mit.edu	37	3	120360508	120360508	+	Silent	SNP	G	G	A			TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr3:120360508G>A	ENST00000283871.5	-	11	1266	c.807C>T	c.(805-807)caC>caT	p.H269H		NM_000187.3	NP_000178.2	Q93099	HGD_HUMAN	homogentisate 1,2-dioxygenase	269					L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	homogentisate 1,2-dioxygenase activity|metal ion binding			cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)	25				GBM - Glioblastoma multiforme(114;0.158)		TATAATTCCCGTGCCAGGCCA	0.438													19	60					0	0	0.592651	0	0	A	120360508	G	A	120360508	2	1	111	1	0	0	0	0	0	0	0	1	7125	1136	40	1		1	HGD	3	120360508	Silent	SNP	G	TCGA-DU-7292-01A-11D-2024-08		120360508	77661922	5	20547											
ENAM	10117	broad.mit.edu	37	4	71509397	71509397	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr4:71509397G>T	ENST00000396073.3	+	9	2535	c.2254G>T	c.(2254-2256)Gct>Tct	p.A752S	ENAM_ENST00000472903.1_Intron	NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	752					bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel	p.A752T(1)		haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			TAATAATGCCGCTGGACCAGA	0.453													33	64					3.67414e-24	4.03638e-24	0.760397	1	0	T	71509397	G	T	71509397	3	4	111	1	0	0	0	0	1	0	0	0	5140	1087	38	5	2284	5	ENAM	4	71509397	Missense_Mutation	SNP	G	TCGA-DU-7292-01A-11D-2024-08		71509397	119644879	6	20548											
ADAMTS3	9508	broad.mit.edu	37	4	73434466	73434466	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr4:73434466G>C	ENST00000286657.4	-	1	50	c.14C>G	c.(13-15)tCa>tGa	p.S5*		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	5					collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			CAACCAAAGTGACAGGAGAAC	0.448													14	22					0	0	0.539581	0	0	C	73434466	G	C	73434466	4	2	111	1	0	0	0	0	0	1	0	0	266	1294	45	5	3691	5	ADAMTS3	4	73434466	Nonsense_Mutation	SNP	G	TCGA-DU-7292-01A-11D-2024-08	1925069	73434466	117719810	7	20549											
CXCL9	4283	broad.mit.edu	37	4	76927403	76927403	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr4:76927403C>T	ENST00000264888.5	-	2	127	c.89G>A	c.(88-90)cGc>cAc	p.R30H		NM_002416.1	NP_002407.1	Q07325	CXCL9_HUMAN	chemokine (C-X-C motif) ligand 9	30					cell-cell signaling|cellular defense response|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|inflammatory response	extracellular space	chemokine activity			large_intestine(3)|liver(1)|lung(5)|ovary(1)|skin(1)	11			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			GCAGGAACAGCGACCCTTTCT	0.433													39	94					0	0	0.796494	0	0	T	76927403	C	T	76927403	3	4	111	1	0	0	0	0	1	0	0	0	4112	768	27	1	300	1	CXCL9	4	76927403	Missense_Mutation	SNP	C	TCGA-DU-7292-01A-11D-2024-08	3492937	76927403	114226873	8	20550											
SEC24D	9871	broad.mit.edu	37	4	119736623	119736623	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr4:119736623C>A	ENST00000379735.5	-	5	927	c.656G>T	c.(655-657)gGa>gTa	p.G219V	SEC24D_ENST00000419654.2_5'UTR|SEC24D_ENST00000280551.6_Missense_Mutation_p.G219V	NM_014822.2	NP_055637.2	O94855	SC24D_HUMAN	SEC24 family member D	219	Pro-rich.				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding	p.G219V(1)		breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37						CGGAGGATATCCAGCACCCAA	0.557													21	36					3.62473e-10	3.82066e-10	0.608945	1	0	A	119736623	C	A	119736623	3	1	111	1	0	0	0	0	1	0	0	0	14051	855	30	5	2518	5	SEC24D	4	119736623	Missense_Mutation	SNP	C	TCGA-DU-7292-01A-11D-2024-08	42809220	119736623	71417653	9	20551											
DCHS2	54798	broad.mit.edu	37	4	155254333	155254333	+	Silent	SNP	C	C	A			TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr4:155254333C>A	ENST00000357232.4	-	9	1529	c.1530G>T	c.(1528-1530)ggG>ggT	p.G510G	DCHS2_ENST00000507542.1_5'UTR|DCHS2_ENST00000339452.1_Silent_p.G1009G	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2		Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		GTCCGTTCCGCCCACTGTCTC	0.632													3	27					0.115264	0.118297	0.115264	1	0	A	155254333	C	A	155254333	2	1	111	1	0	0	0	0	0	0	0	1	4311	726	26	5		5	DCHS2	4	155254333	Silent	SNP	C	TCGA-DU-7292-01A-11D-2024-08	35517710	155254333	35899943	10	20552											
DCHS2	54798	broad.mit.edu	37	4	155287390	155287390	+	Silent	SNP	C	C	T	rs78251264	byFrequency	TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr4:155287390C>T	ENST00000357232.4	-	5	665	c.666G>A	c.(664-666)tcG>tcA	p.S222S	DCHS2_ENST00000339452.1_Silent_p.S816S	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2		Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		TAAAAAGGGACGACACGTTTC	0.448													6	46					0	0	0.217242	0	0	T	155287390	C	T	155287390	2	4	111	1	0	0	0	0	0	0	0	1	4311	523	19	1		1	DCHS2	4	155287390	Silent	SNP	C	TCGA-DU-7292-01A-11D-2024-08	33057	155287390	35866886	11	20553											
CLCN3	1182	broad.mit.edu	37	4	170601232	170601232	+	Silent	SNP	C	C	T			TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr4:170601232C>T	ENST00000513761.1	+	3	751	c.192C>T	c.(190-192)agC>agT	p.S64S	CLCN3_ENST00000504131.2_Silent_p.S47S|CLCN3_ENST00000347613.4_Silent_p.S64S|CLCN3_ENST00000360642.3_Silent_p.S64S	NM_001829.3	NP_001820.2	P51790	CLCN3_HUMAN	chloride channel, voltage-sensitive 3	64					endosomal lumen acidification	cell surface|early endosome membrane|Golgi membrane|integral to membrane|late endosome membrane|transport vesicle membrane	antiporter activity|ATP binding|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|voltage-gated chloride channel activity			breast(5)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	29		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0233)|LUSC - Lung squamous cell carcinoma(193;0.131)		ATGGAGGCAGCATTAACAGTT	0.368													17	39					0	0	0.557998	0	0	T	170601232	C	T	170601232	2	4	111	1	0	0	0	0	0	0	0	1	3487	709	25	2		2	CLCN3	4	170601232	Silent	SNP	C	TCGA-DU-7292-01A-11D-2024-08	15313842	170601232	20553044	12	20554											
MTRR	4552	broad.mit.edu	37	5	7875377	7875377	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr5:7875377G>A	ENST00000264668.2	+	4	401	c.371G>A	c.(370-372)gGt>gAt	p.G124D	MTRR_ENST00000341013.6_Missense_Mutation_p.V46M|MTRR_ENST00000440940.2_Missense_Mutation_p.G97D|MTRR_ENST00000502509.1_3'UTR	NM_002454.2|NM_024010.2	NP_002445.2|NP_076915.2	Q9UBK8	MTRR_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase reductase	124	Flavodoxin-like.				methionine biosynthetic process	cytosol	[methionine synthase] reductase activity|flavin adenine dinucleotide binding|FMN binding|iron ion binding|NADP binding			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(14)|ovary(1)|prostate(3)|stomach(1)	31					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)	CTAGGTCTCGGTGATTCAGAA	0.348													43	75					0	0	0.853193	0	0	A	7875377	G	A	7875377	3	1	111	1	0	0	0	0	1	0	0	0	10009	1261	44	2	385	2	MTRR	5	7875377	Missense_Mutation	SNP	G	TCGA-DU-7292-01A-11D-2024-08		7875377	173039883	13	20555											
FYB	2533	broad.mit.edu	37	5	39202453	39202453	+	Silent	SNP	G	G	A			TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr5:39202453G>A	ENST00000351578.6	-	2	800	c.610C>T	c.(610-612)Cta>Tta	p.L204L	FYB_ENST00000540520.1_Silent_p.L214L|FYB_ENST00000512982.1_Silent_p.L204L|FYB_ENST00000515010.1_Silent_p.L204L|FYB_ENST00000505428.1_Silent_p.L204L	NM_199335.3	NP_955367.1	O15117	FYB_HUMAN	FYN binding protein	204					cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway	cytosol|nucleus	protein binding			endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45	all_lung(31;0.000343)		Epithelial(62;0.235)			TCGGTACTTAGGGGCGGCTTC	0.532													33	37					0	0	0.788014	0	0	A	39202453	G	A	39202453	2	1	111	1	0	0	0	0	0	0	0	1	6159	991	35	2		2	FYB	5	39202453	Silent	SNP	G	TCGA-DU-7292-01A-11D-2024-08	31327076	39202453	141712807	14	20556											
DDX4	54514	broad.mit.edu	37	5	55063741	55063741	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr5:55063741C>T	ENST00000505374.1	+	7	459	c.367C>T	c.(367-369)Cgg>Tgg	p.R123W	DDX4_ENST00000514278.2_Intron|SLC38A9_ENST00000504880.1_Intron|DDX4_ENST00000353507.5_Missense_Mutation_p.R123W|DDX4_ENST00000354991.5_Missense_Mutation_p.R123W|DDX4_ENST00000511853.1_Missense_Mutation_p.R24W|DDX4_ENST00000508580.1_3'UTR	NM_024415.2	NP_077726.1	Q9NQI0	DDX4_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 4	123	Gly-rich.				multicellular organismal development|sperm motility	perinuclear region of cytoplasm|pi-body|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	24		Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223)				TAATCCAACACGGAACAGAGG	0.333													17	38					0	0	0.624587	0	0	T	55063741	C	T	55063741	3	4	111	1	0	0	0	0	1	0	0	0	4383	527	19	1	430	1	DDX4	5	55063741	Missense_Mutation	SNP	C	TCGA-DU-7292-01A-11D-2024-08	15861288	55063741	125851519	15	20557											
PCDHA5	56143	broad.mit.edu	37	5	140202819	140202819	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr5:140202819G>A	ENST00000529859.1	+	1	1459	c.1459G>A	c.(1459-1461)Gcc>Acc	p.A487T	PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Missense_Mutation_p.A487T|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000378126.3_Missense_Mutation_p.A487T	NM_018908.2	NP_061731.1														NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCAGGAGAACGCCCTGGTGTC	0.662													32	63					0	0	0.847076	0	0	A	140202819	G	A	140202819	3	1	111	1	0	0	0	0	1	0	0	0	11574	1087	38	1	1461	1	PCDHA5	5	140202819	Missense_Mutation	SNP	G	TCGA-DU-7292-01A-11D-2024-08	85139078	140202819	40712441	16	20558											
PCDHB4	56131	broad.mit.edu	37	5	140503168	140503168	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr5:140503168G>A	ENST00000194152.1	+	1	1588	c.1588G>A	c.(1588-1590)Gtg>Atg	p.V530M		NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN		530	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGAGTTCCGCGTGGGCGCCTC	0.672													32	73					0	0	0.769981	0	0	A	140503168	G	A	140503168	3	1	111	1	0	0	0	0	1	0	0	0	11591	1145	40	1	1590	1	PCDHB4	5	140503168	Missense_Mutation	SNP	G	TCGA-DU-7292-01A-11D-2024-08	300349	140503168	40412092	17	20559											
GRM4	2914	broad.mit.edu	37	6	33996019	33996019	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr6:33996019C>T	ENST00000538487.2	-	10	3010	c.2567G>A	c.(2566-2568)cGc>cAc	p.R856H	GRM4_ENST00000374177.3_Missense_Mutation_p.R740H|GRM4_ENST00000455714.2_Missense_Mutation_p.R716H|GRM4_ENST00000609222.1_Missense_Mutation_p.R723H|GRM4_ENST00000374181.4_Missense_Mutation_p.R856H|GRM4_ENST00000535756.1_Missense_Mutation_p.R723H|GRM4_ENST00000544773.2_Missense_Mutation_p.R687H|GRM4_ENST00000545715.1_5'UTR	NM_000841.2|NM_001256811.1	NP_000832.1|NP_001243740.1	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4						activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48					L-Glutamic Acid(DB00142)	GCTGCGCTTGCGCTTGGGCAC	0.602													18	48					0	0	0.557998	0	0	T	33996019	C	T	33996019	3	4	111	1	0	0	0	0	1	0	0	0	6840	768	27	1	179	1	GRM4	6	33996019	Missense_Mutation	SNP	C	TCGA-DU-7292-01A-11D-2024-08		33996019	137119048	18	20560											
CRHR2	1395	broad.mit.edu	37	7	30695575	30695575	+	Silent	SNP	G	G	A			TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr7:30695575G>A	ENST00000471646.1	-	9	1302	c.885C>T	c.(883-885)cgC>cgT	p.R295R	CRHR2_ENST00000341843.4_Silent_p.R281R|CRHR2_ENST00000506074.2_Silent_p.R295R|CRHR2_ENST00000348438.4_Silent_p.R322R	NM_001202482.1|NM_001202483.1|NM_001883.4	NP_001189411.1|NP_001189412.1|NP_001874.2	Q13324	CRFR2_HUMAN	corticotropin releasing hormone receptor 2	295					G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	corticotrophin-releasing factor receptor activity|protein binding			breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						TGGTGGACGCGCGTAACTTTG	0.552													36	65					0	0	0.827153	0	0	A	30695575	G	A	30695575	2	1	111	1	0	0	0	0	0	0	0	1	3895	1074	38	1		1	CRHR2	7	30695575	Silent	SNP	G	TCGA-DU-7292-01A-11D-2024-08		30695575	128443088	19	20561											
EGFR	1956	broad.mit.edu	37	7	55221711	55221711	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr7:55221711G>C	ENST00000275493.2	+	7	932	c.755G>C	c.(754-756)cGc>cCc	p.R252P	EGFR_ENST00000420316.2_Missense_Mutation_p.R252P|EGFR_ENST00000344576.2_Missense_Mutation_p.R252P|EGFR_ENST00000455089.1_Missense_Mutation_p.R207P|EGFR_ENST00000442591.1_Missense_Mutation_p.R252P|EGFR_ENST00000342916.3_Missense_Mutation_p.R252P|EGFR_ENST00000454757.2_Missense_Mutation_p.R199P	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	252					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	TAGGTCTGCCGCAAATTCCGA	0.587		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			877	231					0	0	0.870114	0	0	C	55221711	G	C	55221711	3	2	111	1	0	0	0	0	1	0	0	0	4993	1087	38	5	781	5	EGFR	7	55221711	Missense_Mutation	SNP	G	TCGA-DU-7292-01A-11D-2024-08	24526136	55221711	103916952	20	20562											
ASNS	440	broad.mit.edu	37	7	97498435	97498435	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr7:97498435C>G	ENST00000175506.4	-	4	562	c.34G>C	c.(34-36)Gat>Cat	p.D12H	ASNS_ENST00000394309.3_Missense_Mutation_p.D12H|ASNS_ENST00000444334.1_Intron|ASNS_ENST00000422745.1_Intron|ASNS_ENST00000455086.1_Intron|ASNS_ENST00000394308.3_Missense_Mutation_p.D12H|ASNS_ENST00000437628.1_Intron	NM_183356.3	NP_899199.2	P08243	ASNS_HUMAN	asparagine synthetase (glutamine-hydrolyzing)	12	Glutamine amidotransferase type-2.				cellular response to glucose starvation|glutamine metabolic process|negative regulation of apoptosis|positive regulation of mitotic cell cycle	cytosol|soluble fraction	asparagine synthase (glutamine-hydrolyzing) activity|ATP binding			ovary(1)	1	all_cancers(62;6.64e-09)|all_epithelial(64;1.58e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0342)|all_lung(186;0.0369)				Adenosine triphosphate(DB00171)|L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	GAAAGGCAATCATCACTGCCA	0.418													15	74					0	0	0.539581	0	0	G	97498435	C	G	97498435	3	3	111	1	0	0	0	0	1	0	0	0	1047	826	29	5	1695	5	ASNS	7	97498435	Missense_Mutation	SNP	C	TCGA-DU-7292-01A-11D-2024-08	42276724	97498435	61640228	21	20563											
SOX7	83595	broad.mit.edu	37	8	10587872	10587872	+	Silent	SNP	C	C	T			TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr8:10587872C>T	ENST00000304501.1	-	1	150	c.72G>A	c.(70-72)tcG>tcA	p.S24S	CTD-2135J3.3_ENST00000519568.1_RNA|CTD-2135J3.3_ENST00000506149.2_RNA|SOX7_ENST00000553390.1_Intron|SOX7_ENST00000554914.1_Intron	NM_031439.2	NP_113627.1	Q9BT81	SOX7_HUMAN	SRY (sex determining region Y)-box 7	24					endoderm formation|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of caspase activity|regulation of canonical Wnt receptor signaling pathway	cytoplasm|nucleus	transcription regulatory region DNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20				COAD - Colon adenocarcinoma(149;0.0732)		ATTGTCCATCCGACAGCTCGG	0.721													4	12					0	0	0.150653	0	0	T	10587872	C	T	10587872	2	4	111	1	0	0	0	0	0	0	0	1	15010	639	23	1		1	SOX7	8	10587872	Silent	SNP	C	TCGA-DU-7292-01A-11D-2024-08		10587872	135776150	22	20564											
ADAM28	10863	broad.mit.edu	37	8	24187575	24187575	+	Silent	SNP	C	C	T	rs151133749	byFrequency	TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr8:24187575C>T	ENST00000265769.4	+	11	1160	c.1050C>T	c.(1048-1050)gaC>gaT	p.D350D	ADAM28_ENST00000437154.2_Silent_p.D350D|RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000523700.1_RNA|ADAM28_ENST00000518516.1_3'UTR|RP11-624C23.1_ENST00000518988.1_RNA|ADAM28_ENST00000397649.3_Silent_p.D97D|ADAM28_ENST00000540823.1_Silent_p.D117D|RP11-624C23.1_ENST00000519689.1_RNA	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28	350	Peptidase M12B.				proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		TGTTTCATGACGACTATTCTT	0.453													31	61					0	0	0.729181	0	0	T	24187575	C	T	24187575	2	4	111	1	0	0	0	0	0	0	0	1	245	535	19	1		1	ADAM28	8	24187575	Silent	SNP	C	TCGA-DU-7292-01A-11D-2024-08	13599703	24187575	122176447	23	20565											
TRPA1	8989	broad.mit.edu	37	8	72987644	72987644	+	Translation_Start_Site	SNP	T	T	C			TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr8:72987644T>C	ENST00000262209.4	-	1	208	c.1A>G	c.(1-3)Atg>Gtg	p.M1V		NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	1						integral to plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	CTGCGCTTCATTGACCCCACC	0.667													22	42					0	0	0.608945	0	0	C	72987644	T	C	72987644	1	2	111	1	0	0	0	0	0	0	0	0	16638	1493	52	3		3	TRPA1	8	72987644	Translation_Start_Site	SNP	T	TCGA-DU-7292-01A-11D-2024-08	48800069	72987644	73376378	24	20566											
FER1L6	654463	broad.mit.edu	37	8	125082819	125082819	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr8:125082819C>T	ENST00000522917.1	+	30	4152	c.3946C>T	c.(3946-3948)Cga>Tga	p.R1316*	FER1L6_ENST00000399018.1_Nonsense_Mutation_p.R1316*|FER1L6-AS2_ENST00000520031.1_RNA	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	1316						integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			TGATGGAGACCGAGTCATAGG	0.398													49	86					0	0	0.870114	0	0	T	125082819	C	T	125082819	4	4	111	1	0	0	0	0	0	1	0	0	5848	644	23	1	4060	1	FER1L6	8	125082819	Nonsense_Mutation	SNP	C	TCGA-DU-7292-01A-11D-2024-08	52095175	125082819	21281203	25	20567											
ANXA1	301	broad.mit.edu	37	9	75773611	75773611	+	Splice_Site	SNP	C	C	T			TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr9:75773611C>T	ENST00000376911.1	+	2	949	c.67C>T	c.(67-69)Caa>Taa	p.Q23*	ANXA1_ENST00000257497.6_Splice_Site_p.Q23*			P04083	ANXA1_HUMAN	annexin A1	23					alpha-beta T cell differentiation|anti-apoptosis|cell surface receptor linked signaling pathway|cellular component movement|inflammatory response|keratinocyte differentiation|lipid metabolic process|peptide cross-linking|positive regulation of vesicle fusion	basolateral plasma membrane|cilium|cornified envelope|cytoplasm|extracellular region|nucleus	calcium ion binding|calcium-dependent phospholipid binding|phospholipase A2 inhibitor activity|protein binding, bridging|receptor binding|structural molecule activity			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(5)	8		all_epithelial(88;2.54e-11)		OV - Ovarian serous cystadenocarcinoma(323;2.82e-06)|GBM - Glioblastoma multiforme(74;0.0325)	Alclometasone(DB00240)|Amcinonide(DB00288)|Beclomethasone(DB00394)|Betamethasone(DB00443)|Clobetasol(DB01013)|Clocortolone(DB00838)|Desonide(DB01260)|Desoximetasone(DB00547)|Dexamethasone(DB01234)|Diflorasone(DB00223)|Flumethasone Pivalate(DB00663)|Halobetasol Propionate(DB00596)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Loteprednol Etabonate(DB00873)|Methylprednisolone(DB00959)|Mometasone(DB00764)|Prednicarbate(DB01130)|Prednisone(DB00635)|Rimexolone(DB00896)|Triamcinolone(DB00620)	TCATTCTTAGCAAACTGTGAA	0.373													8	29					0	0	0.27861	0	0	T	75773611	C	T	75773611	5	4	111	1	0	0	0	0	0	0	1	0	708	724	25	2	73	2	ANXA1	9	75773611	Splice_Site	SNP	C	TCGA-DU-7292-01A-11D-2024-08		75773611	65439820	26	20568											
GCNT1	2650	broad.mit.edu	37	9	79117864	79117864	+	Silent	SNP	G	G	A			TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr9:79117864G>A	ENST00000442371.1	+	3	1506	c.567G>A	c.(565-567)tcG>tcA	p.S189S	GCNT1_ENST00000536223.1_Silent_p.S189S|GCNT1_ENST00000444201.2_Silent_p.S189S|GCNT1_ENST00000376730.4_Silent_p.S189S	NM_001097634.1	NP_001091103.1	Q02742	GCNT1_HUMAN	glucosaminyl (N-acetyl) transferase 1, core 2	189	Catalytic (By similarity).				protein O-linked glycosylation	Golgi membrane|integral to membrane	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(11)|prostate(2)|urinary_tract(1)	30						TTTATGCATCGTGGAGCCGGG	0.458													24	54					0	0	0.654019	0	0	A	79117864	G	A	79117864	2	1	111	1	0	0	0	0	0	0	0	1	6340	1132	40	1		1	GCNT1	9	79117864	Silent	SNP	G	TCGA-DU-7292-01A-11D-2024-08	3344253	79117864	62095567	27	20569											
PPP3CB	5532	broad.mit.edu	37	10	75204477	75204477	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr10:75204477C>G	ENST00000342558.3	-	12	1478	c.1372G>C	c.(1372-1374)Gat>Cat	p.D458H	PPP3CB_ENST00000544628.1_Intron|PPP3CB_ENST00000394822.2_Missense_Mutation_p.D476H|PPP3CB_ENST00000394829.2_Intron|PPP3CB_ENST00000360663.5_Intron|PPP3CB_ENST00000394828.2_Intron|PPP3CB_ENST00000545874.1_Missense_Mutation_p.D373H			P16298	PP2BB_HUMAN	protein phosphatase 3, catalytic subunit, beta isozyme	0										breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(7)|skin(1)|urinary_tract(1)	22	Prostate(51;0.0119)					TGCATAACATCATTACCACTT	0.493													10	7					0	0	0.335167	0	0	G	75204477	C	G	75204477	3	3	111	1	0	0	0	0	1	0	0	0	12447	841	29	5		5	PPP3CB	10	75204477	Missense_Mutation	SNP	C	TCGA-DU-7292-01A-11D-2024-08		75204477	60330270	28	20570											
MRVI1	10335	broad.mit.edu	37	11	10622600	10622600	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr11:10622600G>A	ENST00000547195.1	-	14	2109	c.1609C>T	c.(1609-1611)Cgc>Tgc	p.R537C	LYVE1_ENST00000531706.1_Intron|MRVI1_ENST00000541483.1_Missense_Mutation_p.R422C|MRVI1_ENST00000558540.1_Missense_Mutation_p.R313C|MRVI1_ENST00000527509.2_Missense_Mutation_p.R537C|MRVI1_ENST00000545852.1_Missense_Mutation_p.R313C|MRVI1_ENST00000531107.1_Missense_Mutation_p.R620C|MRVI1_ENST00000424001.1_Missense_Mutation_p.R313C|MRVI1_ENST00000436272.1_Missense_Mutation_p.R601C|MRVI1_ENST00000534266.2_Missense_Mutation_p.R313C|MRVI1_ENST00000421747.1_Missense_Mutation_p.R619C|MRVI1_ENST00000552103.1_Missense_Mutation_p.R537C|MRVI1_ENST00000423302.2_Missense_Mutation_p.R628C	NM_001100163.2|NM_001206881.1	NP_001093633.1|NP_001193810.1	Q9Y6F6	MRVI1_HUMAN	murine retrovirus integration site 1 homolog	601	Interaction with ITPR1 (By similarity).				platelet activation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)	22				all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)		TTCGACATGCGCTTTTCCTGC	0.507													67	133					0	0	0.870114	0	0	A	10622600	G	A	10622600	3	1	111	1	0	0	0	0	1	0	0	0	9902	1087	38	1	884	1	MRVI1	11	10622600	Missense_Mutation	SNP	G	TCGA-DU-7292-01A-11D-2024-08		10622600	124383916	29	20571											
OR5T3	390154	broad.mit.edu	37	11	56020051	56020051	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr11:56020051G>A	ENST00000303059.3	+	1	376	c.376G>A	c.(376-378)Gga>Aga	p.G126R		NM_001004747.1	NP_001004747.1	Q8NGG3	OR5T3_HUMAN	olfactory receptor, family 5, subfamily T, member 3	126					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	39	Esophageal squamous(21;0.00448)					TTCATTTATCGGATGTGCAAC	0.363													52	95					0	0	0.870114	0	0	A	56020051	G	A	56020051	3	1	111	1	0	0	0	0	1	0	0	0	11230	1117	39	1	378	1	OR5T3	11	56020051	Missense_Mutation	SNP	G	TCGA-DU-7292-01A-11D-2024-08	45397451	56020051	78986465	30	20572											
TNKS1BP1	85456	broad.mit.edu	37	11	57076923	57076923	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr11:57076923C>T	ENST00000532437.1	-	5	3573	c.3262G>A	c.(3262-3264)Ggt>Agt	p.G1088S	TNKS1BP1_ENST00000358252.3_Missense_Mutation_p.G1088S			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	1088	Acidic.|Gly-rich.				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				CTAAACTCACCGACCCAGCCT	0.642													15	42					0	0	0.457914	0	0	T	57076923	C	T	57076923	3	4	111	1	0	0	0	0	1	0	0	0	16380	652	23	1	1951	1	TNKS1BP1	11	57076923	Missense_Mutation	SNP	C	TCGA-DU-7292-01A-11D-2024-08	1056872	57076923	77929593	31	20573											
NUMA1	4926	broad.mit.edu	37	11	71725528	71725528	+	Silent	SNP	C	C	T			TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr11:71725528C>T	ENST00000393695.3	-	15	3352	c.3021G>A	c.(3019-3021)gcG>gcA	p.A1007A	NUMA1_ENST00000351960.6_Intron|RP11-849H4.4_ENST00000502284.1_RNA|NUMA1_ENST00000358965.6_Silent_p.A1007A	NM_006185.2	NP_006176.2	Q14980	NUMA1_HUMAN	nuclear mitotic apparatus protein 1	1007					G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						GGGTCAGCCGCGCCACCTCCC	0.687			T	RARA	APL								31	71					0	0	0.760397	0	0	T	71725528	C	T	71725528	2	4	111	1	0	0	0	0	0	0	0	1	10798	755	27	1		1	NUMA1	11	71725528	Silent	SNP	C	TCGA-DU-7292-01A-11D-2024-08	14648605	71725528	63280988	32	20574											
PIP4K2C	79837	broad.mit.edu	37	12	57989814	57989814	+	Splice_Site	SNP	G	G	A			TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr12:57989814G>A	ENST00000354947.5	+	4	529	c.513G>A	c.(511-513)caG>caA	p.Q171Q	PIP4K2C_ENST00000550465.1_Splice_Site_p.Q153Q|PIP4K2C_ENST00000422156.3_Intron|PIP4K2C_ENST00000540759.2_Splice_Site_p.Q171Q			Q8TBX8	PI42C_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type II, gamma	171	PIPK.					cytoplasm|membrane	1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding|identical protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(13)|pancreas(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	33	Melanoma(17;0.122)					ACTATCACCAGGTCAGGCCTC	0.478													37	59					0	0	0.834066	0	0	A	57989814	G	A	57989814	5	1	111	1	0	0	0	0	0	0	1	0	11986	1014	35	2	527	2	PIP4K2C	12	57989814	Splice_Site	SNP	G	TCGA-DU-7292-01A-11D-2024-08		57989814	75862081	33	20575											
WIF1	11197	broad.mit.edu	37	12	65460502	65460502	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr12:65460502G>A	ENST00000286574.4	-	6	1023	c.649C>T	c.(649-651)Cga>Tga	p.R217*		NM_007191.4	NP_009122.2	Q9Y5W5	WIF1_HUMAN	WNT inhibitory factor 1	217	EGF-like 2.				multicellular organismal development|Wnt receptor signaling pathway	extracellular region	protein tyrosine kinase activity			cervix(1)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	21			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0231)		TTCATACATCGTGGGGTACAA	0.428			T	HMGA2	pleomorphic salivary gland adenoma								6	28					0	0	0.217242	0	0	A	65460502	G	A	65460502	4	1	111	1	0	0	0	0	0	1	0	0	17426	1153	40	1	510	1	WIF1	12	65460502	Nonsense_Mutation	SNP	G	TCGA-DU-7292-01A-11D-2024-08	7470688	65460502	68391393	34	20576											
WASF3	10810	broad.mit.edu	37	13	27257045	27257045	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr13:27257045C>T	ENST00000361042.4	+	9	1501	c.1276C>T	c.(1276-1278)Cgg>Tgg	p.R426W	WASF3_ENST00000335327.5_Missense_Mutation_p.R429W			Q9UPY6	WASF3_HUMAN	WAS protein family, member 3	429					actin filament polymerization	cytoplasm|cytoskeleton	actin binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|skin(2)	22	Colorectal(5;0.000247)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155)		TGAGGCGAAGCGGCAAGAGCC	0.647													27	34					0	0	0.769981	0	0	T	27257045	C	T	27257045	3	4	111	1	0	0	0	0	1	0	0	0	17314	759	27	1	1311	1	WASF3	13	27257045	Missense_Mutation	SNP	C	TCGA-DU-7292-01A-11D-2024-08		27257045	87912833	35	20577											
SOHLH2	54937	broad.mit.edu	37	13	36764136	36764136	+	Silent	SNP	G	G	A	rs144665592	byFrequency	TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr13:36764136G>A	ENST00000379881.3	-	6	676	c.588C>T	c.(586-588)ttC>ttT	p.F196F	SOHLH2_ENST00000317764.6_Silent_p.F196F|CCDC169-SOHLH2_ENST00000511166.1_Silent_p.F273F|SOHLH2_ENST00000554962.1_Silent_p.F273F	NM_017826.2	NP_060296.2			spermatogenesis and oogenesis specific basic helix-loop-helix 2									p.F196F(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;4.63e-08)|Epithelial(112;2.67e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00272)|BRCA - Breast invasive adenocarcinoma(63;0.00685)|GBM - Glioblastoma multiforme(144;0.0273)		TGTTTTTCTCGAACTCTGACA	0.333													23	26					0	0	0.667858	0	0	A	36764136	G	A	36764136	2	1	111	1	0	0	0	0	0	0	0	1	14978	1049	37	1		1	SOHLH2	13	36764136	Silent	SNP	G	TCGA-DU-7292-01A-11D-2024-08	9507091	36764136	78405742	36	20578											
SLITRK6	84189	broad.mit.edu	37	13	86368978	86368978	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr13:86368978C>T	ENST00000400286.2	-	2	2264	c.1666G>A	c.(1666-1668)Gaa>Aaa	p.E556K		NM_032229.2	NP_115605.2	Q9H5Y7	SLIK6_HUMAN	SLIT and NTRK-like family, member 6	556	LRRCT 2.					integral to membrane		p.E556K(1)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		GCTTTCAATTCCTTTTTGTCG	0.453													37	57					0	0	0.827153	0	0	T	86368978	C	T	86368978	3	4	111	1	0	0	0	0	1	0	0	0	14801	864	30	2	863	2	SLITRK6	13	86368978	Missense_Mutation	SNP	C	TCGA-DU-7292-01A-11D-2024-08	49604842	86368978	28800900	37	20579											
CIB2	10518	broad.mit.edu	37	15	78398161	78398161	+	Silent	SNP	C	C	T	rs117153558	byFrequency	TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr15:78398161C>T	ENST00000258930.3	-	5	790	c.462G>A	c.(460-462)gaG>gaA	p.E154E	CIB2_ENST00000539011.1_Silent_p.E111E|CIB2_ENST00000560618.1_Silent_p.E111E|CIB2_ENST00000557846.1_Silent_p.E105E	NM_006383.2	NP_006374.1	O75838	CIB2_HUMAN	calcium and integrin binding family member 2	154	EF-hand 3.						calcium ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	11						AGTCAGCCTCCTCAATGACCT	0.592													3	59					0	0	0.150653	0	0	T	78398161	C	T	78398161	2	4	111	1	0	0	0	0	0	0	0	1	3443	680	24	2		2	CIB2	15	78398161	Silent	SNP	C	TCGA-DU-7292-01A-11D-2024-08		78398161	24133231	38	20580											
CCDC64B	146439	broad.mit.edu	37	16	3085393	3085393	+	Silent	SNP	G	G	A			TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr16:3085393G>A	ENST00000572449.1	-	2	167	c.105C>T	c.(103-105)gaC>gaT	p.D35D	RP11-473M20.5_ENST00000382225.3_RNA|CCDC64B_ENST00000389347.4_Silent_p.D35D			A1A5D9	BICR2_HUMAN	coiled-coil domain containing 64B	35										breast(1)|endometrium(2)|large_intestine(1)	4						CCAGGAATGAGTCCCGCCGCT	0.692													5	10					0	0	0.184627	0	0	A	3085393	G	A	3085393	2	1	111	1	0	0	0	0	0	0	0	1	2856	1020	36	2		2	CCDC64B	16	3085393	Silent	SNP	G	TCGA-DU-7292-01A-11D-2024-08		3085393	87269360	39	20581											
OTOA	146183	broad.mit.edu	37	16	21702976	21702976	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr16:21702976C>G	ENST00000388958.3	+	8	708	c.707C>G	c.(706-708)aCt>aGt	p.T236S	OTOA_ENST00000388956.4_Missense_Mutation_p.T157S|OTOA_ENST00000286149.4_Missense_Mutation_p.T236S	NM_144672.3	NP_653273.3	Q7RTW8	OTOAN_HUMAN	otoancorin	236					sensory perception of sound	anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46				GBM - Glioblastoma multiforme(48;0.0414)		TCCTGGATGACTGGAATACTG	0.468													14	30					0	0	0.520397	0	0	G	21702976	C	G	21702976	3	3	111	1	0	0	0	0	1	0	0	0	11349	565	20	4	771	4	OTOA	16	21702976	Missense_Mutation	SNP	C	TCGA-DU-7292-01A-11D-2024-08	18617583	21702976	68651777	40	20582											
MYH3	4621	broad.mit.edu	37	17	10554966	10554966	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr17:10554966C>T	ENST00000583535.1	-	5	455	c.368G>A	c.(367-369)tGt>tAt	p.C123Y	MYH3_ENST00000226209.7_Missense_Mutation_p.C123Y	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	123	Myosin head-like.				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						GACAGTGACACAGAAGAGGCC	0.498													38	73					0	0	0.834066	0	0	T	10554966	C	T	10554966	3	4	111	1	0	0	0	0	1	0	0	0	10084	478	17	2	5602	2	MYH3	17	10554966	Missense_Mutation	SNP	C	TCGA-DU-7292-01A-11D-2024-08		10554966	70640244	41	20583											
G6PC	2538	broad.mit.edu	37	17	41059630	41059630	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr17:41059630C>T	ENST00000253801.2	+	3	510	c.431C>T	c.(430-432)cCg>cTg	p.P144L	G6PC_ENST00000592383.1_Silent_p.A118A|G6PC_ENST00000585489.1_Missense_Mutation_p.P144L	NM_000151.3	NP_000142.2	P35575	G6PC_HUMAN	glucose-6-phosphatase, catalytic subunit	144					gluconeogenesis|glucose homeostasis|transmembrane transport	integral to endoplasmic reticulum membrane	glucose-6-phosphatase activity|phosphate binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)	23		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.113)		AAGATAAAGCCGACCTACAGA	0.527													12	19					0	0	0.457914	0	0	T	41059630	C	T	41059630	3	4	111	1	0	0	0	0	1	0	0	0	6178	652	23	1	441	1	G6PC	17	41059630	Missense_Mutation	SNP	C	TCGA-DU-7292-01A-11D-2024-08	30504664	41059630	40135580	42	20584											
SAMD14	201191	broad.mit.edu	37	17	48193445	48193445	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr17:48193445C>T	ENST00000330175.4	-	5	826	c.509G>A	c.(508-510)cGt>cAt	p.R170H	SAMD14_ENST00000503131.1_Missense_Mutation_p.R170H|SAMD14_ENST00000503734.1_5'UTR	NM_001257359.1	NP_001244288.1	Q8IZD0	SAM14_HUMAN	sterile alpha motif domain containing 14	170										breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(3)|prostate(1)|urinary_tract(1)	15						ACTGGCGTCACGGCTGTCATC	0.602													13	28					0	0	0.457914	0	0	T	48193445	C	T	48193445	3	4	111	1	0	0	0	0	1	0	0	0	13871	536	19	1	856	1	SAMD14	17	48193445	Missense_Mutation	SNP	C	TCGA-DU-7292-01A-11D-2024-08	7133815	48193445	33001765	43	20585											
GPRC5C	55890	broad.mit.edu	37	17	72436710	72436710	+	Silent	SNP	C	C	T			TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr17:72436710C>T	ENST00000392627.1	+	2	2056	c.930C>T	c.(928-930)taC>taT	p.Y310Y	GPRC5C_ENST00000392629.2_Silent_p.Y277Y|GPRC5C_ENST00000481232.1_Intron|GPRC5C_ENST00000342648.5_Intron	NM_022036.2	NP_071319.2	Q9NQ84	GPC5C_HUMAN	G protein-coupled receptor, family C, group 5, member C	265						cytoplasmic vesicle membrane|integral to plasma membrane	G-protein coupled receptor activity|protein binding			central_nervous_system(1)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	17						TGTATACTTACGGCAACAAGC	0.607													11	42					0	0	0.435327	0	0	T	72436710	C	T	72436710	2	4	111	1	0	0	0	0	0	0	0	1	6767	547	19	1		1	GPRC5C	17	72436710	Silent	SNP	C	TCGA-DU-7292-01A-11D-2024-08	24243265	72436710	8758500	44	20586											
ZNF333	84449	broad.mit.edu	37	19	14828520	14828520	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr19:14828520A>C	ENST00000292530.6	+	11	966	c.875A>C	c.(874-876)gAg>gCg	p.E292A	ZNF333_ENST00000540689.2_Missense_Mutation_p.E292A|ZNF333_ENST00000536363.1_Missense_Mutation_p.E183A	NM_032433.2	NP_115809.1	Q96JL9	ZN333_HUMAN	zinc finger protein 333	292					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|prostate(1)	21						ACTTTTACAGAGATCCTGTCC	0.418													24	37					0	0	0.667858	0	0	C	14828520	A	C	14828520	3	2	111	1	0	0	0	0	1	0	0	0	17907	304	11	5	913	5	ZNF333	19	14828520	Missense_Mutation	SNP	A	TCGA-DU-7292-01A-11D-2024-08		14828520	44300463	45	20587											
WDR62	284403	broad.mit.edu	37	19	36590446	36590447	+	In_Frame_Ins	INS	-	-	GAAGCC	rs139749569	byFrequency	TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr19:36590446_36590447insGAAGCC	ENST00000401500.2	+	22	2701_2702	c.2666_2667insGAAGCC	c.(2665-2670)atgaag>atGAAGCCgaag	p.890_891insPK	WDR62_ENST00000270301.7_In_Frame_Ins_p.890_891insPK	NM_001083961.1|NM_173636.4	NP_001077430.1|NP_775907.4	O43379	WDR62_HUMAN	WD repeat domain 62	890					cerebral cortex development	nucleus				cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3)	43	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			TTTACCCCCATGAAGCCCGAGA	0.634													21	80	---	---	---	---						GAAGCC	36590447	-	GAAGCC	36590446	7	5	111	1	0	1	1	0	0	0	0	0	17373	1464	51	0	2752	0	WDR62	19	36590446	In_Frame_Ins	INS	-	TCGA-DU-7292-01A-11D-2024-08	21761926	36590446	22538537	46	20588											
ARHGAP35	2909	broad.mit.edu	37	19	47423551	47423551	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr19:47423551G>A	ENST00000404338.3	+	1	1619	c.1619G>A	c.(1618-1620)cGt>cAt	p.R540H		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	540					axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity										CAAGCAGAGCGTGATGCCCTT	0.483													49	100					0	0	0.870114	0	0	A	47423551	G	A	47423551	3	1	111	1	0	0	0	0	1	0	0	0	6836	1145	40	1	1621	1	ARHGAP35	19	47423551	Missense_Mutation	SNP	G	TCGA-DU-7292-01A-11D-2024-08	10833105	47423551	11705432	47	20589											
TSKS	60385	broad.mit.edu	37	19	50249906	50249906	+	Silent	SNP	G	G	A			TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr19:50249906G>A	ENST00000246801.3	-	6	895	c.813C>T	c.(811-813)aaC>aaT	p.N271N	TSKS_ENST00000358830.3_Silent_p.N71N	NM_021733.1	NP_068379.1	Q9UJT2	TSKS_HUMAN	testis-specific serine kinase substrate	271							protein binding			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		GGCCCAGGCTGTTCCAGGAGA	0.731													3	23					0	0	0.150653	0	0	A	50249906	G	A	50249906	2	1	111	1	0	0	0	0	0	0	0	1	16687	1368	48	2		2	TSKS	19	50249906	Silent	SNP	G	TCGA-DU-7292-01A-11D-2024-08	2826355	50249906	8879077	48	20590											
NLRP4	147945	broad.mit.edu	37	19	56369014	56369014	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr19:56369014C>G	ENST00000587891.1	+	1	204	c.30C>G	c.(28-30)ttC>ttG	p.F10L	NLRP4_ENST00000346986.5_Intron|NLRP4_ENST00000301295.6_Intron			Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	0	DAPIN.						ATP binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		TGTGGGTTTTCTCTCCTCTTG	0.473													16	40					0	0	0.539581	0	0	G	56369014	C	G	56369014	3	3	111	1	0	0	0	0	1	0	0	0	10526	928	32	4		4	NLRP4	19	56369014	Missense_Mutation	SNP	C	TCGA-DU-7292-01A-11D-2024-08	6119108	56369014	2759969	49	20591											
TGM3	7053	broad.mit.edu	37	20	2321165	2321165	+	Missense_Mutation	SNP	G	G	A	rs140423684		TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr20:2321165G>A	ENST00000381458.5	+	13	2083	c.2020G>A	c.(2020-2022)Gac>Aac	p.D674N		NM_003245.3	NP_003236.3	Q08188	TGM3_HUMAN	transglutaminase 3	674				D -> G (in Ref. 2; BAF84040).	cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization	cytoplasm|extrinsic to internal side of plasma membrane	acyltransferase activity|calcium ion binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	39					L-Glutamine(DB00130)	ACTGCTCGCCGACTTCTCCTG	0.602													29	64					0	0	0.706142	0	0	A	2321165	G	A	2321165	3	1	111	1	0	0	0	0	1	0	0	0	15891	1058	37	1	2070	1	TGM3	20	2321165	Missense_Mutation	SNP	G	TCGA-DU-7292-01A-11D-2024-08		2321165	60704355	50	20592											
EEF1A2	1917	broad.mit.edu	37	20	62127281	62127281	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr20:62127281C>G	ENST00000217182.3	-	3	417	c.252G>C	c.(250-252)aaG>aaC	p.K84N	EEF1A2_ENST00000298049.7_Missense_Mutation_p.K84N	NM_001958.3	NP_001949.1	Q05639	EF1A2_HUMAN	eukaryotic translation elongation factor 1 alpha 2	84						nucleus	GTP binding|GTPase activity|protein binding|translation elongation factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(14)|stomach(1)	20	all_cancers(38;9.45e-12)		BRCA - Breast invasive adenocarcinoma(10;1.22e-05)			TGATGTAGTACTTGGTGGTCT	0.592											OREG0026129	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	87					0	0	0.217242	0	0	G	62127281	C	G	62127281	3	3	111	1	0	0	0	0	1	0	0	0	4950	564	20	4	1163	4	EEF1A2	20	62127281	Missense_Mutation	SNP	C	TCGA-DU-7292-01A-11D-2024-08	59806116	62127281	898239	51	20593											
JAM2	58494	broad.mit.edu	37	21	27062196	27062196	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr21:27062196A>G	ENST00000480456.1	+	3	702	c.152A>G	c.(151-153)aAa>aGa	p.K51R	JAM2_ENST00000312957.5_Missense_Mutation_p.K51R|JAM2_ENST00000425221.2_Intron|JAM2_ENST00000400532.1_Missense_Mutation_p.K51R	NM_001270407.1|NM_021219.3	NP_001257336.1|NP_067042.1	P57087	JAM2_HUMAN	junctional adhesion molecule 2	51	Ig-like V-type.				blood coagulation|cell-cell adhesion|leukocyte migration	integral to plasma membrane|tight junction				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|stomach(1)|urinary_tract(1)	19						TTAGCCTGCAAAACCCCAAAG	0.368													42	67					0	0	0.859065	0	0	G	27062196	A	G	27062196	3	3	111	1	0	0	0	0	1	0	0	0	7987	14	1	3	162	3	JAM2	21	27062196	Missense_Mutation	SNP	A	TCGA-DU-7292-01A-11D-2024-08		27062196	21067699	52	20594											
DSCAM	1826	broad.mit.edu	37	21	41711192	41711192	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr21:41711192C>T	ENST00000400454.1	-	7	1838	c.1361G>A	c.(1360-1362)cGc>cAc	p.R454H		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	454	Ig-like C2-type 5.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CTGGCTGATGCGGTGACTGCC	0.602													3	42					0	0	0.115264	0	0	T	41711192	C	T	41711192	3	4	111	1	0	0	0	0	1	0	0	0	4794	768	27	1	4785	1	DSCAM	21	41711192	Missense_Mutation	SNP	C	TCGA-DU-7292-01A-11D-2024-08	14648996	41711192	6418703	53	20595											
SLC19A1	6573	broad.mit.edu	37	21	46951525	46951525	+	Silent	SNP	G	G	T			TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr21:46951525G>T	ENST00000311124.4	-	3	879	c.727C>A	c.(727-729)Cgg>Agg	p.R243R	SLC19A1_ENST00000567670.1_Silent_p.R243R|SLC19A1_ENST00000485649.2_Silent_p.R203R|SLC19A1_ENST00000380010.4_Silent_p.R243R	NM_194255.2	NP_919231.1	P41440	S19A1_HUMAN	solute carrier family 19 (folate transporter), member 1	243					folic acid metabolic process	integral to plasma membrane|membrane fraction	folic acid binding|folic acid transporter activity|methotrexate transporter activity|reduced folate carrier activity			endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	10				Colorectal(79;0.0569)|READ - Rectum adenocarcinoma(84;0.172)		CAGGCCACCCGCAGGGCGTGT	0.706													22	38					3.7963e-18	4.05633e-18	0.654019	1	0	T	46951525	G	T	46951525	2	4	111	1	0	0	0	0	0	0	0	1	14483	1086	38	5		5	SLC19A1	21	46951525	Silent	SNP	G	TCGA-DU-7292-01A-11D-2024-08	5240333	46951525	1178370	54	20596											
PCNT	5116	broad.mit.edu	37	21	47845846	47845846	+	Silent	SNP	C	C	T	rs138588682		TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr21:47845846C>T	ENST00000359568.5	+	33	7388	c.7281C>T	c.(7279-7281)gaC>gaT	p.D2427D	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	2427					cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					GGAAGGAAGACGAGATACAGG	0.552													21	63					0	0	0.639603	0	0	T	47845846	C	T	47845846	2	4	111	1	0	0	0	0	0	0	0	1	11637	535	19	1		1	PCNT	21	47845846	Silent	SNP	C	TCGA-DU-7292-01A-11D-2024-08	894321	47845846	284049	55	20597											
NF2	4771	broad.mit.edu	37	22	30069292	30069292	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr22:30069292delA	ENST00000338641.4	+	12	1598	c.1157delA	c.(1156-1158)gaafs	p.E386fs	NF2_ENST00000361166.4_Frame_Shift_Del_p.E386fs|NF2_ENST00000353887.4_Frame_Shift_Del_p.E303fs|NF2_ENST00000403999.3_Frame_Shift_Del_p.E386fs|NF2_ENST00000334961.7_Frame_Shift_Del_p.E303fs|NF2_ENST00000403435.1_Frame_Shift_Del_p.E357fs|NF2_ENST00000361676.4_Frame_Shift_Del_p.E344fs|NF2_ENST00000347330.5_Intron|NF2_ENST00000413209.2_Intron|NF2_ENST00000397789.3_Frame_Shift_Del_p.E386fs|NF2_ENST00000361452.4_Frame_Shift_Del_p.E345fs	NM_000268.3|NM_016418.5|NM_181832.2	NP_000259.1|NP_057502.2|NP_861970.1	P35240	MERL_HUMAN	neurofibromin 2 (merlin)	386	Glu-rich.				actin cytoskeleton organization|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of cell-matrix adhesion|negative regulation of DNA replication|negative regulation of tyrosine phosphorylation of Stat3 protein|negative regulation of tyrosine phosphorylation of Stat5 protein|positive regulation of stress fiber assembly|regulation of hippo signaling cascade|Schwann cell proliferation	cytoskeleton|early endosome|extrinsic to membrane|filopodium membrane|nucleolus|perinuclear region of cytoplasm|ruffle membrane	cytoskeletal protein binding|protein binding	p.?(3)|p.L383fs*12(1)|p.M375fs*20(1)		NS(1)|bone(2)|breast(5)|central_nervous_system(21)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(17)|large_intestine(9)|liver(1)|lung(9)|meninges(372)|ovary(2)|pituitary(1)|pleura(9)|prostate(1)|skin(7)|soft_tissue(303)|stomach(2)|thyroid(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	776						CTGTTGGCTGAAAAGGCCCAG	0.587			"D, Mis, N, F, S, O"		"meningioma, acoustic neuroma, renal "	"meningioma, acoustic neuroma"			Neurofibromatosis, type 2				2	4	---	---	---	---						-	30069292	A	-	30069292	7	5	111	1	0	1	0	1	0	0	0	0	10404	246	9	0	1203	0	NF2	22	30069292	Frame_Shift_Del	DEL	A	TCGA-DU-7292-01A-11D-2024-08		30069292	21235274	56	20598											
FRMPD4	9758	broad.mit.edu	37	X	12736404	12736404	+	Silent	SNP	C	C	T			TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chrX:12736404C>T	ENST00000380682.1	+	16	3965	c.3459C>T	c.(3457-3459)gaC>gaT	p.D1153D		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	1153					positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						TCTTAACTGACGTGACCTGTG	0.552													84	32					0	0	0.870114	0	0	T	12736404	C	T	12736404	2	4	111	1	0	0	0	0	0	0	0	1	6094	535	19	1		1	FRMPD4	23	12736404	Silent	SNP	C	TCGA-DU-7292-01A-11D-2024-08		12736404	142534156	57	20599											
POF1B	79983	broad.mit.edu	37	X	84600916	84600916	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chrX:84600916G>A	ENST00000262753.4	-	6	818	c.673C>T	c.(673-675)Cat>Tat	p.H225Y	POF1B_ENST00000373145.3_Missense_Mutation_p.H225Y	NM_024921.3	NP_079197.3	Q8WVV4	POF1B_HUMAN	premature ovarian failure, 1B	225							actin binding			central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)	35						TTTCCAATATGTGTAGAAATT	0.418													6	70					0	0	0.248553	0	0	A	84600916	G	A	84600916	3	1	111	1	0	0	0	0	1	0	0	0	12230	1377	48	2	1144	2	POF1B	23	84600916	Missense_Mutation	SNP	G	TCGA-DU-7292-01A-11D-2024-08	71864512	84600916	70669644	58	20600											
MMEL1	79258	broad.mit.edu	37	1	2529663	2529663	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-7294-01A-11D-2024-08	TCGA-DU-7294-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b576b3bd-8c8b-4b42-bb6e-de38b2e326a5	f68fc265-8b53-451d-b684-8e541d074aeb	g.chr1:2529663G>A	ENST00000288709.6	-	13	1468	c.1228C>T	c.(1228-1230)Cga>Tga	p.R410*	MMEL1_ENST00000378412.3_Nonsense_Mutation_p.R419*|MMEL1_ENST00000502556.1_Nonsense_Mutation_p.R262*	NM_033467.3	NP_258428.2	Q495T6	MMEL1_HUMAN	membrane metallo-endopeptidase-like 1	419					proteolysis	extracellular region|integral to membrane|intracellular membrane-bounded organelle	metal ion binding|metalloendopeptidase activity			cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1)	27	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)		TAGTTCACTCGTGTGTCCTTG	0.582													29	11					0	0	0.000409698	0	0	A	2529663	G	A	2529663	4	1	112	1	0	0	0	0	0	1	0	0	9694	1153	40	1	1132	1	MMEL1	1	2529663	Nonsense_Mutation	SNP	G	TCGA-DU-7294-01A-11D-2024-08		2529663	246720958	1	20601											
TPM3	7170	broad.mit.edu	37	1	154145663	154145663	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-7294-01A-11D-2024-08	TCGA-DU-7294-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b576b3bd-8c8b-4b42-bb6e-de38b2e326a5	f68fc265-8b53-451d-b684-8e541d074aeb	g.chr1:154145663A>G	ENST00000368533.3	-	3	333	c.281T>C	c.(280-282)aTt>aCt	p.I94T	TPM3_ENST00000341485.5_Intron|TPM3_ENST00000368530.2_Missense_Mutation_p.I131T|TPM3_ENST00000469717.1_5'UTR|TPM3_ENST00000302206.5_Missense_Mutation_p.I4T|TPM3_ENST00000341372.3_Missense_Mutation_p.I69T|TPM3_ENST00000328159.4_Missense_Mutation_p.I94T|TPM3_ENST00000323144.7_Missense_Mutation_p.I94T|TPM3_ENST00000368531.2_Missense_Mutation_p.I94T|TPM3_ENST00000271850.7_Missense_Mutation_p.I131T|TPM3_ENST00000330188.9_Missense_Mutation_p.I94T	NM_001043352.1|NM_001278188.1|NM_153649.3	NP_001036817.1|NP_001265117.1|NP_705935.1	P06753	TPM3_HUMAN	tropomyosin 3	130					cellular component movement|muscle filament sliding|regulation of muscle contraction	cytosol|muscle thin filament tropomyosin|stress fiber	actin binding		TPM3/NTRK1_ENST00000392302(70)|TPM3/ALK(33)	breast(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)					CCGGTTTTCAATAACCTTCAT	0.433			T	"NTRK1, ALK, ROS1"	"papillary thyroid, ALCL, NSCLC"								16	34					0	0	0.000422831	0	0	G	154145663	A	G	154145663	3	3	112	1	0	0	0	0	1	0	0	0	16468	101	4	3	744	3	TPM3	1	154145663	Missense_Mutation	SNP	A	TCGA-DU-7294-01A-11D-2024-08	151616000	154145663	95104958	2	20602											
TMEM131	23505	broad.mit.edu	37	2	98377070	98377070	+	Silent	SNP	G	G	A			TCGA-DU-7294-01A-11D-2024-08	TCGA-DU-7294-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b576b3bd-8c8b-4b42-bb6e-de38b2e326a5	f68fc265-8b53-451d-b684-8e541d074aeb	g.chr2:98377070G>A	ENST00000186436.5	-	38	5322	c.5094C>T	c.(5092-5094)agC>agT	p.S1698S		NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131	1698	Ser-rich.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						CTGAGCCATCGCTGTCAACAG	0.478													4	7					0	0	0.00024832	0	0	A	98377070	G	A	98377070	2	1	112	1	0	0	0	0	0	0	0	1	16104	1078	38	1		1	TMEM131	2	98377070	Silent	SNP	G	TCGA-DU-7294-01A-11D-2024-08		98377070	144822303	3	20603											
COBLL1	22837	broad.mit.edu	37	2	165579003	165579003	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-7294-01A-11D-2024-08	TCGA-DU-7294-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b576b3bd-8c8b-4b42-bb6e-de38b2e326a5	f68fc265-8b53-451d-b684-8e541d074aeb	g.chr2:165579003T>C	ENST00000375458.2	-	5	912	c.691A>G	c.(691-693)Att>Gtt	p.I231V	COBLL1_ENST00000194871.6_Missense_Mutation_p.I297V|COBLL1_ENST00000491126.2_Intron|COBLL1_ENST00000392717.2_Missense_Mutation_p.I269V|COBLL1_ENST00000342193.4_Missense_Mutation_p.I231V|COBLL1_ENST00000409184.3_Missense_Mutation_p.I269V	NM_001278460.1|NM_001278461.1	NP_001265389.1|NP_001265390.1	Q53SF7	COBL1_HUMAN	cordon-bleu WH2 repeat protein-like 1	269										central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	47						TCCTTCATAATATCTAGGTTT	0.313													27	25					0	0	0.000339439	0	0	C	165579003	T	C	165579003	3	2	112	1	0	0	0	0	1	0	0	0	3677	1406	49	3	2849	3	COBLL1	2	165579003	Missense_Mutation	SNP	T	TCGA-DU-7294-01A-11D-2024-08	67201933	165579003	77620370	4	20604											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-DU-7294-01A-11D-2024-08	TCGA-DU-7294-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b576b3bd-8c8b-4b42-bb6e-de38b2e326a5	f68fc265-8b53-451d-b684-8e541d074aeb	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								35	45					0	0	0.00170553	0	0	T	209113112	C	T	209113112	3	4	112	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-DU-7294-01A-11D-2024-08	43534109	209113112	34086261	5	20605											
USP37	57695	broad.mit.edu	37	2	219321847	219321847	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-7294-01A-11D-2024-08	TCGA-DU-7294-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b576b3bd-8c8b-4b42-bb6e-de38b2e326a5	f68fc265-8b53-451d-b684-8e541d074aeb	g.chr2:219321847A>C	ENST00000258399.3	-	24	3093	c.2681T>G	c.(2680-2682)gTt>gGt	p.V894G	USP37_ENST00000415516.1_Missense_Mutation_p.V800G|USP37_ENST00000418019.1_Missense_Mutation_p.V894G|USP37_ENST00000454775.1_Missense_Mutation_p.V894G	NM_020935.2	NP_065986	Q86T82	UBP37_HUMAN	ubiquitin specific peptidase 37	894					ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			NS(2)|breast(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(5)|stomach(1)	35		Renal(207;0.0915)		Epithelial(149;1.08e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.00375)|Lung(261;0.00487)		GTGACTGACAACACTGATGAG	0.363													4	45					0	0	0.00024832	0	0	C	219321847	A	C	219321847	3	2	112	1	0	0	0	0	1	0	0	0	17128	43	2	5	270	5	USP37	2	219321847	Missense_Mutation	SNP	A	TCGA-DU-7294-01A-11D-2024-08	10208735	219321847	23877526	6	20606											
UBE2B	7320	broad.mit.edu	37	5	133725924	133725924	+	Silent	SNP	G	G	T			TCGA-DU-7294-01A-11D-2024-08	TCGA-DU-7294-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b576b3bd-8c8b-4b42-bb6e-de38b2e326a5	f68fc265-8b53-451d-b684-8e541d074aeb	g.chr5:133725924G>T	ENST00000265339.2	+	6	756	c.339G>T	c.(337-339)ctG>ctT	p.L113L	UBE2B_ENST00000511807.1_3'UTR	NM_003337.2	NP_003328.1	P63146	UBE2B_HUMAN	ubiquitin-conjugating enzyme E2B	113					canonical Wnt receptor signaling pathway|histone H2A ubiquitination|negative regulation of cAMP-mediated signaling|postreplication repair|proteasomal ubiquitin-dependent protein catabolic process|protein autoubiquitination|protein K11-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein monoubiquitination|protein stabilization|response to drug|response to UV	cytoplasm|plasma membrane|replication fork	ATP binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity			kidney(1)|large_intestine(2)|lung(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AGTCTCTGCTGGATGAACCGA	0.388								Rad6 pathway					4	38					0.000602214	0.00686244	0.000602214	1	0	T	133725924	G	T	133725924	2	4	112	1	0	0	0	0	0	0	0	1	16906	1335	47	5		5	UBE2B	5	133725924	Silent	SNP	G	TCGA-DU-7294-01A-11D-2024-08		133725924	47189336	7	20607											
MAGI2	9863	broad.mit.edu	37	7	77998517	77998517	+	Silent	SNP	G	G	C			TCGA-DU-7294-01A-11D-2024-08	TCGA-DU-7294-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b576b3bd-8c8b-4b42-bb6e-de38b2e326a5	f68fc265-8b53-451d-b684-8e541d074aeb	g.chr7:77998517G>C	ENST00000354212.4	-	7	1312	c.1059C>G	c.(1057-1059)ggC>ggG	p.G353G	MAGI2_ENST00000536571.1_Silent_p.G185G|MAGI2_ENST00000522391.1_Silent_p.G353G|MAGI2_ENST00000419488.1_Silent_p.G353G|MAGI2_ENST00000535697.1_Silent_p.G190G	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	353	Interaction with DDN.|WW 2.					cell junction|synapse|synaptosome	phosphatase binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				TTTTTTCCCAGCCATATGGAA	0.274													13	38					0	0	0.000219431	0	0	C	77998517	G	C	77998517	2	2	112	1	0	0	0	0	0	0	0	1	9241	958	34	4		4	MAGI2	7	77998517	Silent	SNP	G	TCGA-DU-7294-01A-11D-2024-08		77998517	81140146	8	20608											
PCLO	27445	broad.mit.edu	37	7	82583261	82583261	+	Silent	SNP	G	G	A			TCGA-DU-7294-01A-11D-2024-08	TCGA-DU-7294-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b576b3bd-8c8b-4b42-bb6e-de38b2e326a5	f68fc265-8b53-451d-b684-8e541d074aeb	g.chr7:82583261G>A	ENST00000333891.9	-	5	7345	c.7008C>T	c.(7006-7008)tcC>tcT	p.S2336S	PCLO_ENST00000423517.2_Silent_p.S2336S	NM_033026.5	NP_149015.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein		Poly-Pro.|Pro-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						ACACGGTTTCGGATAAGCTAC	0.428													45	49					0	0	0.000509022	0	0	A	82583261	G	A	82583261	2	1	112	1	0	0	0	0	0	0	0	1	11630	1103	39	1		1	PCLO	7	82583261	Silent	SNP	G	TCGA-DU-7294-01A-11D-2024-08	4584744	82583261	76555402	9	20609											
ACN9	57001	broad.mit.edu	37	7	96747045	96747045	+	Silent	SNP	C	C	A			TCGA-DU-7294-01A-11D-2024-08	TCGA-DU-7294-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b576b3bd-8c8b-4b42-bb6e-de38b2e326a5	f68fc265-8b53-451d-b684-8e541d074aeb	g.chr7:96747045C>A	ENST00000432641.2	+	1	1144	c.10C>A	c.(10-12)Cgg>Agg	p.R4R	ACN9_ENST00000360382.4_Silent_p.R4R	NM_020186.2	NP_064571.1	Q9NRP4	ACN9_HUMAN	ACN9 homolog (S. cerevisiae)	4					regulation of gluconeogenesis	mitochondrial intermembrane space				large_intestine(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(3)	10	all_cancers(62;2.54e-08)|all_epithelial(64;2.24e-08)|Esophageal squamous(72;0.00507)|all_lung(186;0.154)|Lung NSC(181;0.159)					TATGCCGGGGCGGCACGTTTC	0.647													24	40					1.74807e-11	2.14138e-10	0.000339439	1	0	A	96747045	C	A	96747045	2	1	112	1	0	0	0	0	0	0	0	1	145	759	27	5		5	ACN9	7	96747045	Silent	SNP	C	TCGA-DU-7294-01A-11D-2024-08	14163784	96747045	62391618	10	20610											
TMEM176A	55365	broad.mit.edu	37	7	150500857	150500857	+	Silent	SNP	C	C	A			TCGA-DU-7294-01A-11D-2024-08	TCGA-DU-7294-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b576b3bd-8c8b-4b42-bb6e-de38b2e326a5	f68fc265-8b53-451d-b684-8e541d074aeb	g.chr7:150500857C>A	ENST00000484928.1	+	5	1073	c.492C>A	c.(490-492)ccC>ccA	p.P164P	TMEM176A_ENST00000461345.1_Silent_p.P105P|TMEM176A_ENST00000004103.3_Silent_p.P164P			Q96HP8	T176A_HUMAN	transmembrane protein 176A	164						integral to membrane				breast(1)|endometrium(1)|lung(7)|ovary(2)|stomach(1)	12			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CTCCAGCCCCCACTCAGAGTC	0.537													19	41					3.62473e-10	4.332e-09	0.00188189	1	0	A	150500857	C	A	150500857	2	1	112	1	0	0	0	0	0	0	0	1	16152	581	21	5		5	TMEM176A	7	150500857	Silent	SNP	C	TCGA-DU-7294-01A-11D-2024-08	53753812	150500857	8637806	11	20611											
RNF32	140545	broad.mit.edu	37	7	156447399	156447399	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-7294-01A-11D-2024-08	TCGA-DU-7294-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b576b3bd-8c8b-4b42-bb6e-de38b2e326a5	f68fc265-8b53-451d-b684-8e541d074aeb	g.chr7:156447399A>G	ENST00000392741.2	+	3	492	c.404A>G	c.(403-405)gAg>gGg	p.E135G	RNF32_ENST00000343665.4_Missense_Mutation_p.E135G|RNF32_ENST00000405335.1_Missense_Mutation_p.E135G|RNF32_ENST00000317955.5_Missense_Mutation_p.E135G|RNF32_ENST00000311822.8_Missense_Mutation_p.E135G|RNF32_ENST00000432459.2_Missense_Mutation_p.E135G|RNF32_ENST00000480011.1_3'UTR|RNF32_ENST00000392743.2_Missense_Mutation_p.E135G|AC005534.8_ENST00000455709.1_RNA			Q9H0A6	RNF32_HUMAN	ring finger protein 32	135						aggresome|endosome	protein binding|zinc ion binding			cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(2)	15	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00291)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		GAAGAATTCGAGCTTCGTCCT	0.542													3	47					0	0	0.000602214	0	0	G	156447399	A	G	156447399	3	3	112	1	0	0	0	0	1	0	0	0	13540	304	11	3	414	3	RNF32	7	156447399	Missense_Mutation	SNP	A	TCGA-DU-7294-01A-11D-2024-08	5946542	156447399	2691264	12	20612											
POP1	10940	broad.mit.edu	37	8	99169863	99169863	+	Silent	SNP	G	G	A			TCGA-DU-7294-01A-11D-2024-08	TCGA-DU-7294-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b576b3bd-8c8b-4b42-bb6e-de38b2e326a5	f68fc265-8b53-451d-b684-8e541d074aeb	g.chr8:99169863G>A	ENST00000401707.2	+	16	2520	c.2439G>A	c.(2437-2439)aaG>aaA	p.K813K	POP1_ENST00000349693.3_Silent_p.K813K	NM_001145860.1|NM_001145861.1	NP_001139332.1|NP_001139333.1	Q99575	POP1_HUMAN	processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae)	813					tRNA 5'-leader removal|tRNA catabolic process	nucleolar ribonuclease P complex|ribonuclease MRP complex	identical protein binding|ribonuclease MRP activity|ribonuclease P activity			autonomic_ganglia(1)|breast(3)|endometrium(4)|large_intestine(9)|lung(15)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Breast(36;1.78e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.145)			AATTACTGAAGCAACTGTCAG	0.488													6	55					0	0	0.000157383	0	0	A	99169863	G	A	99169863	2	1	112	1	0	0	0	0	0	0	0	1	12299	962	34	2		2	POP1	8	99169863	Silent	SNP	G	TCGA-DU-7294-01A-11D-2024-08		99169863	47194159	13	20613											
DOCK8	81704	broad.mit.edu	37	9	368171	368171	+	Silent	SNP	G	G	C			TCGA-DU-7294-01A-11D-2024-08	TCGA-DU-7294-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b576b3bd-8c8b-4b42-bb6e-de38b2e326a5	f68fc265-8b53-451d-b684-8e541d074aeb	g.chr9:368171G>C	ENST00000382329.1	+	2	456	c.69G>C	c.(67-69)ggG>ggC	p.G23G	DOCK8_ENST00000453981.1_Intron|DOCK8_ENST00000382331.1_Intron|DOCK8_ENST00000432829.2_Intron|DOCK8_ENST00000469391.1_Intron			Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	0					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		TCAAATCAGGGTGGGCTGCTC	0.502													41	23					0	0	0.00195071	0	0	C	368171	G	C	368171	2	2	112	1	0	0	0	0	0	0	0	1	4720	1276	44	5		5	DOCK8	9	368171	Silent	SNP	G	TCGA-DU-7294-01A-11D-2024-08		368171	140845260	14	20614											
PSMD5	5711	broad.mit.edu	37	9	123586941	123586941	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-7294-01A-11D-2024-08	TCGA-DU-7294-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b576b3bd-8c8b-4b42-bb6e-de38b2e326a5	f68fc265-8b53-451d-b684-8e541d074aeb	g.chr9:123586941G>T	ENST00000210313.3	-	7	911	c.837C>A	c.(835-837)aaC>aaA	p.N279K	PSMD5_ENST00000373904.5_Missense_Mutation_p.N236K	NM_001270427.1|NM_005047.3	NP_001257356.1|NP_005038.1	Q16401	PSMD5_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 5	279					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|proteasome regulatory particle assembly|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome complex	protein binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|prostate(1)	10						TGACAGCCAGGTTTCCAAAAA	0.388													26	40					1.5548e-18	1.95347e-17	0.000878237	1	0	T	123586941	G	T	123586941	3	4	112	1	0	0	0	0	1	0	0	0	12750	1252	44	5	693	5	PSMD5	9	123586941	Missense_Mutation	SNP	G	TCGA-DU-7294-01A-11D-2024-08	123218770	123586941	17626490	15	20615											
OR52N5	390075	broad.mit.edu	37	11	5799221	5799221	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-7294-01A-11D-2024-08	TCGA-DU-7294-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b576b3bd-8c8b-4b42-bb6e-de38b2e326a5	f68fc265-8b53-451d-b684-8e541d074aeb	g.chr11:5799221A>G	ENST00000317093.2	-	1	676	c.644T>C	c.(643-645)aTt>aCt	p.I215T	TRIM5_ENST00000380027.1_Intron	NM_001001922.2	NP_001001922.2	Q8NH56	O52N5_HUMAN	olfactory receptor, family 52, subfamily N, member 5	215					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(3)|liver(1)|lung(17)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)		AAACACTCCAATCAGGAGAGC	0.438													15	57					0	0	0.000219431	0	0	G	5799221	A	G	5799221	3	3	112	1	0	0	0	0	1	0	0	0	11178	101	4	3	334	3	OR52N5	11	5799221	Missense_Mutation	SNP	A	TCGA-DU-7294-01A-11D-2024-08		5799221	129207295	16	20616											
TRPC6	7225	broad.mit.edu	37	11	101323746	101323746	+	Silent	SNP	A	A	G			TCGA-DU-7294-01A-11D-2024-08	TCGA-DU-7294-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b576b3bd-8c8b-4b42-bb6e-de38b2e326a5	f68fc265-8b53-451d-b684-8e541d074aeb	g.chr11:101323746A>G	ENST00000344327.3	-	13	3160	c.2736T>C	c.(2734-2736)ctT>ctC	p.L912L	TRPC6_ENST00000360497.4_Silent_p.L857L|TRPC6_ENST00000532133.1_Silent_p.L834L|TRPC6_ENST00000348423.4_Silent_p.L796L	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel, subfamily C, member 6	912					axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		GTTCTCTAATAAGTTCTGCTA	0.368													47	87					0	0	0.000781405	0	0	G	101323746	A	G	101323746	2	3	112	1	0	0	0	0	0	0	0	1	16644	349	13	3		3	TRPC6	11	101323746	Silent	SNP	A	TCGA-DU-7294-01A-11D-2024-08	95524525	101323746	33682770	17	20617											
GRIK4	2900	broad.mit.edu	37	11	120732708	120732708	+	Missense_Mutation	SNP	G	G	T	rs137906208	by1000genomes	TCGA-DU-7294-01A-11D-2024-08	TCGA-DU-7294-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b576b3bd-8c8b-4b42-bb6e-de38b2e326a5	f68fc265-8b53-451d-b684-8e541d074aeb	g.chr11:120732708G>T	ENST00000527524.2	+	9	1072	c.785G>T	c.(784-786)cGt>cTt	p.R262L	GRIK4_ENST00000527130.1_3'UTR|GRIK4_ENST00000438375.2_Missense_Mutation_p.R262L	NM_001282470.1	NP_001269399.1	Q16099	GRIK4_HUMAN	glutamate receptor, ionotropic, kainate 4	262					glutamate signaling pathway|synaptic transmission	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)	L-Glutamic Acid(DB00142)	GTGGATGATCGTGTCAACATC	0.483													72	81					1.42382e-21	1.83598e-20	0.000781405	1	0	T	120732708	G	T	120732708	3	4	112	1	0	0	0	0	1	0	0	0	6817	1145	40	5	811	5	GRIK4	11	120732708	Missense_Mutation	SNP	G	TCGA-DU-7294-01A-11D-2024-08	19408962	120732708	14273808	18	20618											
CLEC7A	64581	broad.mit.edu	37	12	10277909	10277909	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7294-01A-11D-2024-08	TCGA-DU-7294-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b576b3bd-8c8b-4b42-bb6e-de38b2e326a5	f68fc265-8b53-451d-b684-8e541d074aeb	g.chr12:10277909C>T	ENST00000353231.5	-	3	499	c.341G>A	c.(340-342)aGc>aAc	p.S114N	CLEC7A_ENST00000396484.2_Missense_Mutation_p.S81N|CLEC7A_ENST00000304084.8_Missense_Mutation_p.S160N|CLEC7A_ENST00000298523.5_Missense_Mutation_p.S114N|CLEC7A_ENST00000533022.1_Missense_Mutation_p.S160N	NM_022570.4	NP_072092.2	Q9BXN2	CLC7A_HUMAN	C-type lectin domain family 7, member A	160					carbohydrate mediated signaling|defense response to protozoan|inflammatory response|innate immune response|phagocytosis, recognition|T cell activation	cytoplasm|integral to membrane	metal ion binding|MHC protein binding|sugar binding			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	7						TTCATTTGAGCTGTCTATCTT	0.388													11	70					0	0	0.00136819	0	0	T	10277909	C	T	10277909	3	4	112	1	0	0	0	0	1	0	0	0	3544	797	28	2	276	2	CLEC7A	12	10277909	Missense_Mutation	SNP	C	TCGA-DU-7294-01A-11D-2024-08		10277909	123573986	19	20619											
SH2B3	10019	broad.mit.edu	37	12	111885211	111885211	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7294-01A-11D-2024-08	TCGA-DU-7294-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b576b3bd-8c8b-4b42-bb6e-de38b2e326a5	f68fc265-8b53-451d-b684-8e541d074aeb	g.chr12:111885211G>A	ENST00000341259.2	+	6	1456	c.1099G>A	c.(1099-1101)Ggc>Agc	p.G367S	SH2B3_ENST00000538307.1_Missense_Mutation_p.G165S	NM_005475.2	NP_005466.1	Q9UQQ2	SH2B3_HUMAN	SH2B adaptor protein 3	367	SH2.				blood coagulation	cytosol	signal transducer activity			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	10						CTGGTTCCACGGCCCCATCTC	0.622													23	52					0	0	0.000295444	0	0	A	111885211	G	A	111885211	3	1	112	1	0	0	0	0	1	0	0	0	14283	1116	39	1	1117	1	SH2B3	12	111885211	Missense_Mutation	SNP	G	TCGA-DU-7294-01A-11D-2024-08	101607302	111885211	21966684	20	20620											
EXD1	161829	broad.mit.edu	37	15	41476577	41476577	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7294-01A-11D-2024-08	TCGA-DU-7294-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b576b3bd-8c8b-4b42-bb6e-de38b2e326a5	f68fc265-8b53-451d-b684-8e541d074aeb	g.chr15:41476577G>A	ENST00000314992.5	-	10	1287	c.1097C>T	c.(1096-1098)cCa>cTa	p.P366L	EXD1_ENST00000458580.2_Missense_Mutation_p.P424L	NM_152596.2	NP_689809.2	Q8NHP7	EXD1_HUMAN	exonuclease 3'-5' domain containing 1	366					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding			large_intestine(5)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(2)	16						TGTAAAACTTGGAGCTTTATC	0.378													51	87					0	0	0.000781405	0	0	A	41476577	G	A	41476577	3	1	112	1	0	0	0	0	1	0	0	0	5324	1348	47	2	451	2	EXD1	15	41476577	Missense_Mutation	SNP	G	TCGA-DU-7294-01A-11D-2024-08		41476577	61054815	21	20621											
CAPNS2	84290	broad.mit.edu	37	16	55600782	55600782	+	Silent	SNP	A	A	G			TCGA-DU-7294-01A-11D-2024-08	TCGA-DU-7294-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b576b3bd-8c8b-4b42-bb6e-de38b2e326a5	f68fc265-8b53-451d-b684-8e541d074aeb	g.chr16:55600782A>G	ENST00000457326.2	+	1	199	c.114A>G	c.(112-114)ggA>ggG	p.G38G	LPCAT2_ENST00000262134.5_Intron|LPCAT2_ENST00000565056.1_Intron	NM_032330.1	NP_115706.1	Q96L46	CPNS2_HUMAN	calpain, small subunit 2	38	Gly-rich.					cytoplasm|plasma membrane	calcium ion binding			central_nervous_system(1)|large_intestine(1)|lung(3)|prostate(2)	7						GAAATATTGGAGGGATAGTTG	0.507													3	28					0	0	0.00024832	0	0	G	55600782	A	G	55600782	2	3	112	1	0	0	0	0	0	0	0	1	2652	291	11	3		3	CAPNS2	16	55600782	Silent	SNP	A	TCGA-DU-7294-01A-11D-2024-08		55600782	34753971	22	20622											
FOXJ1	2302	broad.mit.edu	37	17	74136327	74136327	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DU-7294-01A-11D-2024-08	TCGA-DU-7294-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b576b3bd-8c8b-4b42-bb6e-de38b2e326a5	f68fc265-8b53-451d-b684-8e541d074aeb	g.chr17:74136327delG	ENST00000322957.6	-	2	504	c.150delC	c.(148-150)cccfs	p.P50fs		NM_001454.3	NP_001445.2	Q92949	FOXJ1_HUMAN	forkhead box J1	50					actin cytoskeleton organization|activation of Rho GTPase activity|central tolerance induction|cilium assembly|epithelial cell differentiation|establishment of apical/basal cell polarity|heart looping|humoral immune response|left/right pattern formation|leukocyte migration|lung development|negative regulation of B cell activation|negative regulation of germinal center formation|negative regulation of humoral immune response mediated by circulating immunoglobulin|negative regulation of interleukin-6 biosynthetic process|negative regulation of NF-kappaB transcription factor activity|negative regulation of T cell differentiation in thymus|negative regulation of T cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of central B cell tolerance induction|spermatogenesis	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			large_intestine(1)|liver(1)|pancreas(1)|skin(1)	4			LUSC - Lung squamous cell carcinoma(166;0.187)			GGGGCAGGGCGGGGGCCTTGG	0.756													2	4	---	---	---	---						-	74136327	G	-	74136327	7	5	112	1	0	1	0	1	0	0	0	0	6045	1103	39	0	1123	0	FOXJ1	17	74136327	Frame_Shift_Del	DEL	G	TCGA-DU-7294-01A-11D-2024-08		74136327	7058883	23	20623											
CABLES1	91768	broad.mit.edu	37	18	20837289	20837289	+	Silent	SNP	C	C	T			TCGA-DU-7294-01A-11D-2024-08	TCGA-DU-7294-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b576b3bd-8c8b-4b42-bb6e-de38b2e326a5	f68fc265-8b53-451d-b684-8e541d074aeb	g.chr18:20837289C>T	ENST00000256925.7	+	10	1860	c.1860C>T	c.(1858-1860)caC>caT	p.H620H	RP11-17J14.2_ENST00000585184.1_RNA|TMEM241_ENST00000450466.2_Intron|CABLES1_ENST00000585061.1_Intron|CABLES1_ENST00000420687.2_Silent_p.H355H|CABLES1_ENST00000400473.2_Silent_p.H293H	NM_001100619.2	NP_001094089.1	Q8TDN4	CABL1_HUMAN	Cdk5 and Abl enzyme substrate 1	620					blood coagulation|cell cycle|cell division|regulation of cell cycle|regulation of cell division	cytosol|nucleus	cyclin-dependent protein kinase regulator activity|protein binding			breast(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|stomach(1)	11	all_cancers(21;0.000102)|all_epithelial(16;2.48e-06)|Lung NSC(20;0.00696)|all_lung(20;0.0197)|Colorectal(14;0.0202)|Ovarian(20;0.127)					TGCCCGAGCACGAAGTCATGC	0.557													8	36					0	0	0.000442599	0	0	T	20837289	C	T	20837289	2	4	112	1	0	0	0	0	0	0	0	1	2547	535	19	1		1	CABLES1	18	20837289	Silent	SNP	C	TCGA-DU-7294-01A-11D-2024-08		20837289	57239959	24	20624											
SMARCA4	6597	broad.mit.edu	37	19	11141525	11141525	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-7294-01A-11D-2024-08	TCGA-DU-7294-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b576b3bd-8c8b-4b42-bb6e-de38b2e326a5	f68fc265-8b53-451d-b684-8e541d074aeb	g.chr19:11141525G>C	ENST00000358026.2	+	25	3786	c.3502G>C	c.(3502-3504)Gca>Cca	p.A1168P	SMARCA4_ENST00000450717.3_Missense_Mutation_p.A1168P|SMARCA4_ENST00000590574.1_Missense_Mutation_p.A1168P|SMARCA4_ENST00000444061.3_Missense_Mutation_p.A1168P|SMARCA4_ENST00000413806.3_Missense_Mutation_p.A1168P|SMARCA4_ENST00000429416.3_Missense_Mutation_p.A1168P|SMARCA4_ENST00000589677.1_Missense_Mutation_p.A1168P|SMARCA4_ENST00000541122.2_Missense_Mutation_p.A1168P|SMARCA4_ENST00000344626.4_Missense_Mutation_p.A1168P	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	1168	Helicase C-terminal.				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				CCTCCAGTCGGCAGACACTGT	0.607			"F, N, Mis"		NSCLC								3	8					0	0	6.4e-05	0	0	C	11141525	G	C	11141525	3	2	112	1	0	0	0	0	1	0	0	0	14824	1203	42	5	3596	5	SMARCA4	19	11141525	Missense_Mutation	SNP	G	TCGA-DU-7294-01A-11D-2024-08		11141525	47987458	25	20625											
CD22	933	broad.mit.edu	37	19	35832001	35832001	+	Silent	SNP	T	T	C			TCGA-DU-7294-01A-11D-2024-08	TCGA-DU-7294-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b576b3bd-8c8b-4b42-bb6e-de38b2e326a5	f68fc265-8b53-451d-b684-8e541d074aeb	g.chr19:35832001T>C	ENST00000085219.5	+	7	1533	c.1467T>C	c.(1465-1467)agT>agC	p.S489S	CD22_ENST00000594250.1_Silent_p.S312S|CD22_ENST00000419549.2_Silent_p.S317S|CD22_ENST00000341773.6_Silent_p.S312S|CD22_ENST00000544992.2_Silent_p.S489S|CD22_ENST00000270311.6_Silent_p.S369S|CD22_ENST00000536635.2_Silent_p.S401S	NM_001771.3	NP_001762.2	P20273	CD22_HUMAN	CD22 molecule	489	Ig-like C2-type 4.				cell adhesion		protein binding|sugar binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		OspA lipoprotein(DB00045)	CTTGTAATAGTTGGTGCTCGT	0.622													4	40					0	0	0.00024832	0	0	C	35832001	T	C	35832001	2	2	112	1	0	0	0	0	0	0	0	1	3007	1722	60	3		3	CD22	19	35832001	Silent	SNP	T	TCGA-DU-7294-01A-11D-2024-08	24690476	35832001	23296982	26	20626											
CIC	23152	broad.mit.edu	37	19	42791815	42791815	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-7294-01A-11D-2024-08	TCGA-DU-7294-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b576b3bd-8c8b-4b42-bb6e-de38b2e326a5	f68fc265-8b53-451d-b684-8e541d074aeb	g.chr19:42791815T>A	ENST00000572681.2	+	6	3496	c.3428T>A	c.(3427-3429)cTg>cAg	p.L1143Q	CIC_ENST00000160740.3_Missense_Mutation_p.L234Q|CIC_ENST00000575354.2_Missense_Mutation_p.L234Q			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	234	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	p.I233_L234>M(1)		autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				AGCAAGATCCTGGGCGAGTGG	0.617			"Mis, F, S"		oligodendroglioma								20	10					0	0	0.000295444	0	0	A	42791815	T	A	42791815	3	1	112	1	0	0	0	0	1	0	0	0	3446	1580	55	5	719	5	CIC	19	42791815	Missense_Mutation	SNP	T	TCGA-DU-7294-01A-11D-2024-08	6959814	42791815	16337168	27	20627											
DMPK	1760	broad.mit.edu	37	19	46275947	46275947	+	Silent	SNP	G	G	A			TCGA-DU-7294-01A-11D-2024-08	TCGA-DU-7294-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b576b3bd-8c8b-4b42-bb6e-de38b2e326a5	f68fc265-8b53-451d-b684-8e541d074aeb	g.chr19:46275947G>A	ENST00000600757.1	-	9	1998	c.1311C>T	c.(1309-1311)caC>caT	p.H437H	DMPK_ENST00000354227.5_Silent_p.H427H|DMPK_ENST00000291270.4_Silent_p.H432H|DMPK_ENST00000447742.2_Silent_p.H427H|DMPK_ENST00000458663.2_Silent_p.H427H|DMPK_ENST00000343373.4_Silent_p.H442H			Q09013	DMPK_HUMAN	dystrophia myotonica-protein kinase	442					regulation of heart contraction		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			endometrium(5)|kidney(1)|large_intestine(1)|lung(6)|stomach(1)|urinary_tract(2)	16		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00616)|GBM - Glioblastoma multiforme(486;0.0825)|Epithelial(262;0.24)		GCGCTTGCACGTGTGGCTCAA	0.632													17	3					0	0	0.00188189	0	0	A	46275947	G	A	46275947	2	1	112	1	0	0	0	0	0	0	0	1	4612	1136	40	1		1	DMPK	19	46275947	Silent	SNP	G	TCGA-DU-7294-01A-11D-2024-08	3484132	46275947	12853036	28	20628											
GGT7	2686	broad.mit.edu	37	20	33439058	33439058	+	Silent	SNP	C	C	T			TCGA-DU-7294-01A-11D-2024-08	TCGA-DU-7294-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b576b3bd-8c8b-4b42-bb6e-de38b2e326a5	f68fc265-8b53-451d-b684-8e541d074aeb	g.chr20:33439058C>T	ENST00000336431.5	-	13	1745	c.1701G>A	c.(1699-1701)gcG>gcA	p.A567A	GGT7_ENST00000469018.1_5'UTR	NM_178026.2	NP_821158.2	Q9UJ14	GGT7_HUMAN	gamma-glutamyltransferase 7	567					glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity			NS(2)|breast(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)	20						TGAGGCCCCGCGCAGCTCCAT	0.637													10	29					0	0	0.000978159	0	0	T	33439058	C	T	33439058	2	4	112	1	0	0	0	0	0	0	0	1	6406	755	27	1		1	GGT7	20	33439058	Silent	SNP	C	TCGA-DU-7294-01A-11D-2024-08		33439058	29586462	29	20629											
WFDC9	259240	broad.mit.edu	37	20	44237304	44237304	+	Silent	SNP	G	G	A			TCGA-DU-7294-01A-11D-2024-08	TCGA-DU-7294-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b576b3bd-8c8b-4b42-bb6e-de38b2e326a5	f68fc265-8b53-451d-b684-8e541d074aeb	g.chr20:44237304G>A	ENST00000326000.1	-	4	454	c.237C>T	c.(235-237)aaC>aaT	p.N79N		NM_147198.3	NP_671731.1	Q8NEX5	WFDC9_HUMAN	WAP four-disulfide core domain 9	79						extracellular region				breast(1)|large_intestine(1)|liver(1)|lung(1)|prostate(1)|stomach(1)	6		Myeloproliferative disorder(115;0.0122)				CAACTCACTCGTTGTCTAAGC	0.463													10	85					0	0	0.000673444	0	0	A	44237304	G	A	44237304	2	1	112	1	0	0	0	0	0	0	0	1	17417	1136	40	1		1	WFDC9	20	44237304	Silent	SNP	G	TCGA-DU-7294-01A-11D-2024-08	10798246	44237304	18788216	30	20630											
COL6A2	1292	broad.mit.edu	37	21	47549370	47549370	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7294-01A-11D-2024-08	TCGA-DU-7294-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b576b3bd-8c8b-4b42-bb6e-de38b2e326a5	f68fc265-8b53-451d-b684-8e541d074aeb	g.chr21:47549370G>A	ENST00000357838.4	+	28	2804	c.2722G>A	c.(2722-2724)Gtg>Atg	p.V908M	COL6A2_ENST00000409416.1_3'UTR|COL6A2_ENST00000310645.5_3'UTR|COL6A2_ENST00000397763.1_Missense_Mutation_p.V908M|COL6A2_ENST00000300527.4_Intron	NM_058174.2	NP_478054.2	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	0	Nonhelical region.|VWFA 3.				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging			NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		CAGGGACATCGTGGGGGACCC	0.687													8	18					0	0	0.000274275	0	0	A	47549370	G	A	47549370	3	1	112	1	0	0	0	0	1	0	0	0	3723	1145	40	1	2858	1	COL6A2	21	47549370	Missense_Mutation	SNP	G	TCGA-DU-7294-01A-11D-2024-08		47549370	580525	31	20631											
CARD10	29775	broad.mit.edu	37	22	37900249	37900249	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DU-7294-01A-11D-2024-08	TCGA-DU-7294-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b576b3bd-8c8b-4b42-bb6e-de38b2e326a5	f68fc265-8b53-451d-b684-8e541d074aeb	g.chr22:37900249delG	ENST00000403299.1	-	10	1794	c.1578delC	c.(1576-1578)cccfs	p.P526fs	CARD10_ENST00000406271.3_Frame_Shift_Del_p.P240fs|CARD10_ENST00000251973.5_Frame_Shift_Del_p.P526fs			Q9BWT7	CAR10_HUMAN	caspase recruitment domain family, member 10	526					activation of NF-kappaB-inducing kinase activity|protein complex assembly|regulation of apoptosis	CBM complex	receptor signaling complex scaffold activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17	Melanoma(58;0.0574)					AGCCGGCACTGGGGGGGAAGG	0.642													2	4	---	---	---	---						-	37900249	G	-	37900249	7	5	112	1	0	1	0	1	0	0	0	0	2662	1335	47	0	1568	0	CARD10	22	37900249	Frame_Shift_Del	DEL	G	TCGA-DU-7294-01A-11D-2024-08		37900249	13404317	32	20632											
TLR7	51284	broad.mit.edu	37	X	12904193	12904193	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-7294-01A-11D-2024-08	TCGA-DU-7294-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b576b3bd-8c8b-4b42-bb6e-de38b2e326a5	f68fc265-8b53-451d-b684-8e541d074aeb	g.chrX:12904193G>C	ENST00000380659.3	+	3	705	c.566G>C	c.(565-567)tGt>tCt	p.C189S		NM_016562.3	NP_057646.1	Q9NYK1	TLR7_HUMAN	toll-like receptor 7	189					cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus	early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane	double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity			NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44					Imiquimod(DB00724)	CGAAATCCTTGTTATGTTTCA	0.383													27	47					0	0	0.00106085	0	0	C	12904193	G	C	12904193	3	2	112	1	0	0	0	0	1	0	0	0	16016	1377	48	5	572	5	TLR7	23	12904193	Missense_Mutation	SNP	G	TCGA-DU-7294-01A-11D-2024-08		12904193	142366367	33	20633											
ZNF157	7712	broad.mit.edu	37	X	47269681	47269681	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7294-01A-11D-2024-08	TCGA-DU-7294-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b576b3bd-8c8b-4b42-bb6e-de38b2e326a5	f68fc265-8b53-451d-b684-8e541d074aeb	g.chrX:47269681G>A	ENST00000377073.3	+	2	165	c.79G>A	c.(79-81)Gtg>Atg	p.V27M		NM_003446.3	NP_003437.2	P51786	ZN157_HUMAN	zinc finger protein 157	27	KRAB.				negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	11						ACAGGGGTCCGTGTCATTCGA	0.483													9	81					0	0	0.000673444	0	0	A	47269681	G	A	47269681	3	1	112	1	0	0	0	0	1	0	0	0	17795	1145	40	1	85	1	ZNF157	23	47269681	Missense_Mutation	SNP	G	TCGA-DU-7294-01A-11D-2024-08	34365488	47269681	108000879	34	20634											
MAGEE2	139599	broad.mit.edu	37	X	75004654	75004654	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7294-01A-11D-2024-08	TCGA-DU-7294-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b576b3bd-8c8b-4b42-bb6e-de38b2e326a5	f68fc265-8b53-451d-b684-8e541d074aeb	g.chrX:75004654C>T	ENST00000373359.2	-	1	425	c.233G>A	c.(232-234)cGt>cAt	p.R78H		NM_138703.4	NP_619648.1	Q8TD90	MAGE2_HUMAN	melanoma antigen family E, 2	78										autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CGCCCCCAAACGTCTGGACTG	0.557													12	35					0	0	0.00136819	0	0	T	75004654	C	T	75004654	3	4	112	1	0	0	0	0	1	0	0	0	9236	536	19	1	1342	1	MAGEE2	23	75004654	Missense_Mutation	SNP	C	TCGA-DU-7294-01A-11D-2024-08	27734973	75004654	80265906	35	20635											
HDX	139324	broad.mit.edu	37	X	83616611	83616611	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-7294-01A-11D-2024-08	TCGA-DU-7294-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b576b3bd-8c8b-4b42-bb6e-de38b2e326a5	f68fc265-8b53-451d-b684-8e541d074aeb	g.chrX:83616611G>T	ENST00000297977.5	-	5	1426	c.1315C>A	c.(1315-1317)Cgc>Agc	p.R439S	HDX_ENST00000373177.2_Missense_Mutation_p.R439S|HDX_ENST00000506585.2_Missense_Mutation_p.R381S	NM_001177479.1|NM_144657.4	NP_001170950.1|NP_653258.2	Q7Z353	HDX_HUMAN	highly divergent homeobox	439						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(12)|liver(1)|lung(19)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						AACTGAGTGCGGTCCTGTAGC	0.378													14	19					1.05317e-09	1.2287e-08	0.000219431	1	0	T	83616611	G	T	83616611	3	4	112	1	0	0	0	0	1	0	0	0	7067	1116	39	5	781	5	HDX	23	83616611	Missense_Mutation	SNP	G	TCGA-DU-7294-01A-11D-2024-08	8611957	83616611	71653949	36	20636											
CROCC	9696	broad.mit.edu	37	1	17250936	17250936	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7298-01A-11D-2024-08	TCGA-DU-7298-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04a9dc1-2a7d-464f-9e72-92e2afe0d451	004f58de-822a-4232-8784-e3a1bc15783d	g.chr1:17250936G>A	ENST00000375541.5	+	3	382	c.313G>A	c.(313-315)Gat>Aat	p.D105N	CROCC_ENST00000467938.1_Intron	NM_014675.3	NP_055490.3	Q5TZA2	CROCC_HUMAN	ciliary rootlet coiled-coil, rootletin	105					cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity			breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		TGCCGAGCGCGATGAGCTCGC	0.652													9	23					0	0	0.006214	0	0	A	17250936	G	A	17250936	3	1	113	1	0	0	0	0	1	0	0	0	3916	1058	37	1	323	1	CROCC	1	17250936	Missense_Mutation	SNP	G	TCGA-DU-7298-01A-11D-2024-08		17250936	231999685	1	20637											
TMCO4	255104	broad.mit.edu	37	1	20073705	20073705	+	Silent	SNP	C	C	T			TCGA-DU-7298-01A-11D-2024-08	TCGA-DU-7298-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04a9dc1-2a7d-464f-9e72-92e2afe0d451	004f58de-822a-4232-8784-e3a1bc15783d	g.chr1:20073705C>T	ENST00000294543.6	-	8	805	c.564G>A	c.(562-564)aaG>aaA	p.K188K	TMCO4_ENST00000375127.1_Silent_p.K188K|TMCO4_ENST00000375122.2_Silent_p.K188K	NM_181719.4	NP_859070.3	Q5TGY1	TMCO4_HUMAN	transmembrane and coiled-coil domains 4	188						integral to membrane				biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00708)|COAD - Colon adenocarcinoma(152;2.28e-05)|BRCA - Breast invasive adenocarcinoma(304;5.8e-05)|Kidney(64;0.000367)|GBM - Glioblastoma multiforme(114;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00459)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0862)|Lung(427;0.223)		GGAGATAACGCTTCCATTTCC	0.547													11	305					0	0	0.008291	0	0	T	20073705	C	T	20073705	2	4	113	1	0	0	0	0	0	0	0	1	16058	796	28	2		2	TMCO4	1	20073705	Silent	SNP	C	TCGA-DU-7298-01A-11D-2024-08	2822769	20073705	229176916	2	20638											
AIM1L	55057	broad.mit.edu	37	1	26650673	26650673	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-7298-01A-11D-2024-08	TCGA-DU-7298-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04a9dc1-2a7d-464f-9e72-92e2afe0d451	004f58de-822a-4232-8784-e3a1bc15783d	g.chr1:26650673C>T	ENST00000527815.1	-	17	2134	c.2085G>A	c.(2083-2085)tgG>tgA	p.W695*	AIM1L_ENST00000308182.5_Nonsense_Mutation_p.W524*	NM_001039775.3	NP_001034864.2	Q8N1P7	AIM1L_HUMAN	absent in melanoma 1-like	524							sugar binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|pancreas(1)|skin(2)	12		all_cancers(24;4.67e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.51e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000792)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.00858)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.165)|LUSC - Lung squamous cell carcinoma(448;0.239)		CCTCGTAGTACCAGATGCAGC	0.622													18	45					0	0	0.00278	0	0	T	26650673	C	T	26650673	4	4	113	1	0	0	0	0	0	1	0	0	428	508	18	2	290	2	AIM1L	1	26650673	Nonsense_Mutation	SNP	C	TCGA-DU-7298-01A-11D-2024-08	6576968	26650673	222599948	3	20639											
SLC5A9	200010	broad.mit.edu	37	1	48703490	48703490	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-7298-01A-11D-2024-08	TCGA-DU-7298-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04a9dc1-2a7d-464f-9e72-92e2afe0d451	004f58de-822a-4232-8784-e3a1bc15783d	g.chr1:48703490G>C	ENST00000236495.5	+	12	1557	c.1507G>C	c.(1507-1509)Gcc>Ccc	p.A503P	SLC5A9_ENST00000438567.2_Missense_Mutation_p.A478P|SLC5A9_ENST00000533824.1_Missense_Mutation_p.A499P	NM_001135181.1	NP_001128653.1	Q2M3M2	SC5A9_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 9	478						integral to membrane|plasma membrane	low-affinity glucose:sodium symporter activity			breast(1)|endometrium(3)|large_intestine(4)|liver(2)|lung(11)|ovary(3)|prostate(1)|urinary_tract(1)	26						CTTCCTGCTGGCCATCTTCTG	0.572													6	37					0	0	0.001168	0	0	C	48703490	G	C	48703490	3	2	113	1	0	0	0	0	1	0	0	0	14727	1203	42	5	1553	5	SLC5A9	1	48703490	Missense_Mutation	SNP	G	TCGA-DU-7298-01A-11D-2024-08	22052817	48703490	200547131	4	20640											
TYW3	127253	broad.mit.edu	37	1	75204387	75204387	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-7298-01A-11D-2024-08	TCGA-DU-7298-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04a9dc1-2a7d-464f-9e72-92e2afe0d451	004f58de-822a-4232-8784-e3a1bc15783d	g.chr1:75204387A>G	ENST00000370867.3	+	3	358	c.269A>G	c.(268-270)aAg>aGg	p.K90R	TYW3_ENST00000421739.2_Intron|TYW3_ENST00000457880.2_Intron|TYW3_ENST00000479111.1_5'UTR	NM_138467.2	NP_612476.1	Q6IPR3	TYW3_HUMAN	tRNA-yW synthesizing protein 3 homolog (S. cerevisiae)	90					tRNA processing		methyltransferase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|ovary(2)|prostate(1)|skin(1)	15						GTAGCTCTGAAGAAAGCAAAT	0.383													15	18					0	0	0.00499	0	0	G	75204387	A	G	75204387	3	3	113	1	0	0	0	0	1	0	0	0	16881	72	3	3	279	3	TYW3	1	75204387	Missense_Mutation	SNP	A	TCGA-DU-7298-01A-11D-2024-08	26500897	75204387	174046234	5	20641											
BLZF1	8548	broad.mit.edu	37	1	169346051	169346051	+	Missense_Mutation	SNP	C	C	G	rs143882259	byFrequency	TCGA-DU-7298-01A-11D-2024-08	TCGA-DU-7298-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04a9dc1-2a7d-464f-9e72-92e2afe0d451	004f58de-822a-4232-8784-e3a1bc15783d	g.chr1:169346051C>G	ENST00000367808.3	+	3	725	c.302C>G	c.(301-303)tCt>tGt	p.S101C	BLZF1_ENST00000329281.2_Missense_Mutation_p.S101C|BLZF1_ENST00000367807.3_Missense_Mutation_p.S101C			Q9H2G9	GO45_HUMAN	basic leucine zipper nuclear factor 1	101					cell proliferation|Golgi organization|Golgi to plasma membrane protein transport|regulation of cell growth|regulation of transcription from RNA polymerase II promoter	Golgi lumen|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|ubiquitin protein ligase binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	14	all_hematologic(923;0.208)					AAGGTTAAGTCTCTGGGACAT	0.373													4	105					0	0	0.000602	0	0	G	169346051	C	G	169346051	3	3	113	1	0	0	0	0	1	0	0	0	1452	913	32	4	308	4	BLZF1	1	169346051	Missense_Mutation	SNP	C	TCGA-DU-7298-01A-11D-2024-08	94141664	169346051	79904570	6	20642											
USH2A	7399	broad.mit.edu	37	1	216496989	216496989	+	Silent	SNP	A	A	C			TCGA-DU-7298-01A-11D-2024-08	TCGA-DU-7298-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04a9dc1-2a7d-464f-9e72-92e2afe0d451	004f58de-822a-4232-8784-e3a1bc15783d	g.chr1:216496989A>C	ENST00000366943.2	-	8	1763	c.1377T>G	c.(1375-1377)ccT>ccG	p.P459P	USH2A_ENST00000307340.3_Silent_p.P459P|USH2A_ENST00000366942.3_Silent_p.P459P			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	459	Laminin N-terminal.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		AATTTGGTCCAGGTGTCAGGA	0.373										HNSCC(13;0.011)			35	93					0	0	0.002852	0	0	C	216496989	A	C	216496989	2	2	113	1	0	0	0	0	0	0	0	1	17096	175	7	5		5	USH2A	1	216496989	Silent	SNP	A	TCGA-DU-7298-01A-11D-2024-08	47150938	216496989	32753632	7	20643											
CAD	790	broad.mit.edu	37	2	27456961	27456961	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7298-01A-11D-2024-08	TCGA-DU-7298-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04a9dc1-2a7d-464f-9e72-92e2afe0d451	004f58de-822a-4232-8784-e3a1bc15783d	g.chr2:27456961C>T	ENST00000264705.4	+	22	3647	c.3485C>T	c.(3484-3486)tCa>tTa	p.S1162L	CAD_ENST00000403525.1_Missense_Mutation_p.S1099L	NM_004341.3	NP_004332.2	P27708	PYR1_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	1162	ATP-grasp 2.|CPSase (Carbamoyl-phosphate synthase).|CPSase B.				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	GGTGTGCATTCAGGTGATGCG	0.587													25	27					0	0	0.00333	0	0	T	27456961	C	T	27456961	3	4	113	1	0	0	0	0	1	0	0	0	2583	838	29	2	3571	2	CAD	2	27456961	Missense_Mutation	SNP	C	TCGA-DU-7298-01A-11D-2024-08		27456961	215742412	8	20644											
XDH	7498	broad.mit.edu	37	2	31588394	31588394	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-7298-01A-11D-2024-08	TCGA-DU-7298-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04a9dc1-2a7d-464f-9e72-92e2afe0d451	004f58de-822a-4232-8784-e3a1bc15783d	g.chr2:31588394G>A	ENST00000379416.3	-	23	2521	c.2473C>T	c.(2473-2475)Cga>Tga	p.R825*		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	825					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity	p.R825*(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	AGCATGCATCGCACAGGGCGG	0.572													39	98					0	0	0.002222	0	0	A	31588394	G	A	31588394	4	1	113	1	0	0	0	0	0	1	0	0	17486	1095	38	1	1584	1	XDH	2	31588394	Nonsense_Mutation	SNP	G	TCGA-DU-7298-01A-11D-2024-08	4131433	31588394	211610979	9	20645											
POTEE	445582	broad.mit.edu	37	2	132021756	132021756	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7298-01A-11D-2024-08	TCGA-DU-7298-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04a9dc1-2a7d-464f-9e72-92e2afe0d451	004f58de-822a-4232-8784-e3a1bc15783d	g.chr2:132021756C>T	ENST00000356920.5	+	15	2822	c.2728C>T	c.(2728-2730)Cgt>Tgt	p.R910C	POTEE_ENST00000358087.5_3'UTR|PLEKHB2_ENST00000404460.1_Intron|PLEKHB2_ENST00000303908.3_Intron	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	910	Actin-like.						ATP binding	p.R910G(1)									GGAAATCGTGCGTGACATCAA	0.602													14	161					0	0	0.00278	0	0	T	132021756	C	T	132021756	3	4	113	1	0	0	0	0	1	0	0	0	12311	768	27	1	2786	1	POTEE	2	132021756	Missense_Mutation	SNP	C	TCGA-DU-7298-01A-11D-2024-08	100433362	132021756	111177617	10	20646											
ZEB2	9839	broad.mit.edu	37	2	145157730	145157730	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-7298-01A-11D-2024-08	TCGA-DU-7298-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04a9dc1-2a7d-464f-9e72-92e2afe0d451	004f58de-822a-4232-8784-e3a1bc15783d	g.chr2:145157730C>G	ENST00000558170.2	-	8	2208	c.1024G>C	c.(1024-1026)Ggc>Cgc	p.G342R	ZEB2_ENST00000409487.3_Missense_Mutation_p.G342R|ZEB2_ENST00000539609.3_Missense_Mutation_p.G318R|ZEB2_ENST00000303660.4_Missense_Mutation_p.G342R	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	342						cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		CTCATTCGGCCATTTACAGAG	0.413													7	35					0	0	0.001984	0	0	G	145157730	C	G	145157730	3	3	113	1	0	0	0	0	1	0	0	0	17682	594	21	5	2632	5	ZEB2	2	145157730	Missense_Mutation	SNP	C	TCGA-DU-7298-01A-11D-2024-08	13135974	145157730	98041643	11	20647											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-DU-7298-01A-11D-2024-08	TCGA-DU-7298-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04a9dc1-2a7d-464f-9e72-92e2afe0d451	004f58de-822a-4232-8784-e3a1bc15783d	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								18	48					0	0	0.001882	0	0	T	209113112	C	T	209113112	3	4	113	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-DU-7298-01A-11D-2024-08	63955382	209113112	34086261	12	20648											
CNOT10	25904	broad.mit.edu	37	3	32754815	32754815	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-7298-01A-11D-2024-08	TCGA-DU-7298-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04a9dc1-2a7d-464f-9e72-92e2afe0d451	004f58de-822a-4232-8784-e3a1bc15783d	g.chr3:32754815A>G	ENST00000328834.5	+	5	843	c.527A>G	c.(526-528)gAa>gGa	p.E176G	CNOT10_ENST00000331889.6_Missense_Mutation_p.E176G|CNOT10_ENST00000454516.2_Missense_Mutation_p.E236G|CNOT10_ENST00000538368.1_Intron	NM_015442.2	NP_056257.1	Q9H9A5	CNOTA_HUMAN	CCR4-NOT transcription complex, subunit 10	176					nuclear-transcribed mRNA poly(A) tail shortening	cytosol	protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(3)	23						GCTGTCCTAGAAAAAATGATT	0.348													23	51					0	0	0.005443	0	0	G	32754815	A	G	32754815	3	3	113	1	0	0	0	0	1	0	0	0	3641	246	9	3	545	3	CNOT10	3	32754815	Missense_Mutation	SNP	A	TCGA-DU-7298-01A-11D-2024-08		32754815	165267615	13	20649											
OR5K2	402135	broad.mit.edu	37	3	98217294	98217294	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-7298-01A-11D-2024-08	TCGA-DU-7298-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04a9dc1-2a7d-464f-9e72-92e2afe0d451	004f58de-822a-4232-8784-e3a1bc15783d	g.chr3:98217294T>C	ENST00000427338.1	+	1	847	c.770T>C	c.(769-771)tTc>tCc	p.F257S	CLDND1_ENST00000502288.1_Intron	NM_001004737.1	NP_001004737.1	Q8NHB8	OR5K2_HUMAN	olfactory receptor, family 5, subfamily K, member 2	257					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(1)|lung(10)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						TCTATTTTTTTCCTATACATT	0.333													14	40					0	0	0.00245	0	0	C	98217294	T	C	98217294	3	2	113	1	0	0	0	0	1	0	0	0	11214	1783	62	3	772	3	OR5K2	3	98217294	Missense_Mutation	SNP	T	TCGA-DU-7298-01A-11D-2024-08	65462479	98217294	99805136	14	20650											
NFKBIZ	64332	broad.mit.edu	37	3	101572700	101572700	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-7298-01A-11D-2024-08	TCGA-DU-7298-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04a9dc1-2a7d-464f-9e72-92e2afe0d451	004f58de-822a-4232-8784-e3a1bc15783d	g.chr3:101572700G>T	ENST00000326172.5	+	5	1445	c.1330G>T	c.(1330-1332)Ggt>Tgt	p.G444C	NFKBIZ_ENST00000326151.5_Missense_Mutation_p.G322C|NFKBIZ_ENST00000394054.2_Missense_Mutation_p.G344C	NM_031419.3	NP_113607.1	Q9BYH8	IKBZ_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, zeta	444	Interaction with NFKB1/p50 (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24						GGATGCAGATGGTGACACGTG	0.388													15	61					7.93312e-07	5.42337e-06	0.00245	1	0	T	101572700	G	T	101572700	3	4	113	1	0	0	0	0	1	0	0	0	10430	1348	47	5	1348	5	NFKBIZ	3	101572700	Missense_Mutation	SNP	G	TCGA-DU-7298-01A-11D-2024-08	3355406	101572700	96449730	15	20651											
PIK3CA	5290	broad.mit.edu	37	3	178936092	178936092	+	Missense_Mutation	SNP	A	A	C	rs121913274		TCGA-DU-7298-01A-11D-2024-08	TCGA-DU-7298-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04a9dc1-2a7d-464f-9e72-92e2afe0d451	004f58de-822a-4232-8784-e3a1bc15783d	g.chr3:178936092A>C	ENST00000263967.3	+	10	1791	c.1634A>C	c.(1633-1635)gAg>gCg	p.E545A		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	545	PI3K helical.		E -> A (in cancer).|E -> G (in KERSEB).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E545A(96)|p.E545G(78)|p.E545V(4)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			GAAATCACTGAGCAGGAGAAA	0.353	E545A(AGS_STOMACH)|E545G(KCL22_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			6	31					0	0	0.004482	0	0	C	178936092	A	C	178936092	3	2	113	1	0	0	0	0	1	0	0	0	11961	304	11	5	1668	5	PIK3CA	3	178936092	Missense_Mutation	SNP	A	TCGA-DU-7298-01A-11D-2024-08	77363392	178936092	19086338	16	20652											
EPHA5	2044	broad.mit.edu	37	4	66361196	66361196	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-7298-01A-11D-2024-08	TCGA-DU-7298-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04a9dc1-2a7d-464f-9e72-92e2afe0d451	004f58de-822a-4232-8784-e3a1bc15783d	g.chr4:66361196T>C	ENST00000273854.3	-	4	1576	c.976A>G	c.(976-978)Agt>Ggt	p.S326G	EPHA5_ENST00000511294.1_Missense_Mutation_p.S326G|EPHA5_ENST00000354839.4_Missense_Mutation_p.S326G|EPHA5_ENST00000432638.2_Intron	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	326	Cys-rich.				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						TGGGTATAACTGTGAGGTGGA	0.463										TSP Lung(17;0.13)			11	113					0	0	0.000978	0	0	C	66361196	T	C	66361196	3	2	113	1	0	0	0	0	1	0	0	0	5198	1580	55	3	2197	3	EPHA5	4	66361196	Missense_Mutation	SNP	T	TCGA-DU-7298-01A-11D-2024-08		66361196	124793080	17	20653											
ADH1C	126	broad.mit.edu	37	4	100260814	100260814	+	RNA	SNP	A	A	T			TCGA-DU-7298-01A-11D-2024-08	TCGA-DU-7298-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04a9dc1-2a7d-464f-9e72-92e2afe0d451	004f58de-822a-4232-8784-e3a1bc15783d	g.chr4:100260814A>T	ENST00000515683.1	-	0	1374					NM_000669.3	NP_000660.1	P00326	ADH1G_HUMAN	alcohol dehydrogenase 1C (class I), gamma polypeptide						ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|zinc ion binding								OV - Ovarian serous cystadenocarcinoma(123;1.08e-07)	Fomepizole(DB01213)|NADH(DB00157)	CATCCAGTGAAAACTTCTTAG	0.328													7	106					0	0	0.001984	0	0	T	100260814	A	T	100260814	1	4	113	0	1	0	0	0	0	0	0	0	308	11	1	5		5	ADH1C	4	100260814	RNA	SNP	A	TCGA-DU-7298-01A-11D-2024-08	33899618	100260814	90893462	18	20654											
PRDM5	11107	broad.mit.edu	37	4	121631494	121631494	+	Silent	SNP	C	C	T			TCGA-DU-7298-01A-11D-2024-08	TCGA-DU-7298-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04a9dc1-2a7d-464f-9e72-92e2afe0d451	004f58de-822a-4232-8784-e3a1bc15783d	g.chr4:121631494C>T	ENST00000264808.3	-	15	1938	c.1698G>A	c.(1696-1698)acG>acA	p.T566T	PRDM5_ENST00000506065.1_5'UTR|PRDM5_ENST00000515109.1_3'UTR|PRDM5_ENST00000428209.2_Silent_p.T535T	NM_018699.2	NP_061169.2	Q9NQX1	PRDM5_HUMAN	PR domain containing 5	566					histone deacetylation|histone H3-K9 methylation|mitotic cell cycle|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	repressing transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(17)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						CTCCAGTGTGCGTCCTCTTGT	0.488													8	28					0	0	0.006214	0	0	T	121631494	C	T	121631494	2	4	113	1	0	0	0	0	0	0	0	1	12512	755	27	1		1	PRDM5	4	121631494	Silent	SNP	C	TCGA-DU-7298-01A-11D-2024-08	21370680	121631494	69522782	19	20655											
PDZD2	23037	broad.mit.edu	37	5	32089975	32089975	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-7298-01A-11D-2024-08	TCGA-DU-7298-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04a9dc1-2a7d-464f-9e72-92e2afe0d451	004f58de-822a-4232-8784-e3a1bc15783d	g.chr5:32089975A>G	ENST00000438447.1	+	20	6809	c.6421A>G	c.(6421-6423)Aca>Gca	p.T2141A	PDZD2_ENST00000282493.3_Missense_Mutation_p.T2141A			O15018	PDZD2_HUMAN	PDZ domain containing 2	2141	Ser-rich.				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						AGAATCATCCACAAGTCATCC	0.562													5	62					0	0	0.000602	0	0	G	32089975	A	G	32089975	3	3	113	1	0	0	0	0	1	0	0	0	11748	159	6	3	6495	3	PDZD2	5	32089975	Missense_Mutation	SNP	A	TCGA-DU-7298-01A-11D-2024-08		32089975	148825285	20	20656											
ADAMTS19	171019	broad.mit.edu	37	5	129039955	129039955	+	Silent	SNP	C	C	A			TCGA-DU-7298-01A-11D-2024-08	TCGA-DU-7298-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04a9dc1-2a7d-464f-9e72-92e2afe0d451	004f58de-822a-4232-8784-e3a1bc15783d	g.chr5:129039955C>A	ENST00000274487.4	+	21	3310	c.3165C>A	c.(3163-3165)ggC>ggA	p.G1055G	CTC-575N7.1_ENST00000503616.1_RNA|ADAMTS19_ENST00000509467.1_3'UTR	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	1055	TSP type-1 4.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		GTGGCAAAGGCATACGTCATC	0.428													59	100					3.28615e-30	2.33131e-29	0.00361	1	0	A	129039955	C	A	129039955	2	1	113	1	0	0	0	0	0	0	0	1	263	697	25	5		5	ADAMTS19	5	129039955	Silent	SNP	C	TCGA-DU-7298-01A-11D-2024-08	96949980	129039955	51875305	21	20657											
RAD50	10111	broad.mit.edu	37	5	131930714	131930714	+	Silent	SNP	T	T	A			TCGA-DU-7298-01A-11D-2024-08	TCGA-DU-7298-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04a9dc1-2a7d-464f-9e72-92e2afe0d451	004f58de-822a-4232-8784-e3a1bc15783d	g.chr5:131930714T>A	ENST00000378823.3	+	12	2348	c.1530T>A	c.(1528-1530)atT>atA	p.I510I	RAD50_ENST00000265335.6_Silent_p.I649I	NM_005732.3	NP_005723.2	Q92878	RAD50_HUMAN	RAD50 homolog (S. cerevisiae)	649					DNA duplex unwinding|double-strand break repair via homologous recombination|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|telomere maintenance via telomerase	Mre11 complex|nuclear chromosome, telomeric region|nucleoplasm	ATP binding|DNA binding|nuclease activity|protein binding, bridging|zinc ion binding			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		all_cancers(142;0.0368)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AAGAGGAAATTGAAAAATCAT	0.368								Homologous recombination					10	62					0	0	0.000978	0	0	A	131930714	T	A	131930714	2	1	113	1	0	0	0	0	0	0	0	1	13036	1800	63	5		5	RAD50	5	131930714	Silent	SNP	T	TCGA-DU-7298-01A-11D-2024-08	2890759	131930714	48984546	22	20658											
PCDHA5	56143	broad.mit.edu	37	5	140203383	140203383	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-7298-01A-11D-2024-08	TCGA-DU-7298-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04a9dc1-2a7d-464f-9e72-92e2afe0d451	004f58de-822a-4232-8784-e3a1bc15783d	g.chr5:140203383C>G	ENST00000529859.1	+	1	2023	c.2023C>G	c.(2023-2025)Ccg>Gcg	p.P675A	PCDHA5_ENST00000529619.1_Missense_Mutation_p.P675A|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000378126.3_Missense_Mutation_p.P675A|PCDHA2_ENST00000526136.1_Intron	NM_018908.2	NP_061731.1														NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGCCAGGCGCCGAAGGCCTC	0.672													3	42					0	0	0.004672	0	0	G	140203383	C	G	140203383	3	3	113	1	0	0	0	0	1	0	0	0	11574	739	26	5	2025	5	PCDHA5	5	140203383	Missense_Mutation	SNP	C	TCGA-DU-7298-01A-11D-2024-08	8272669	140203383	40711877	23	20659											
HAVCR1	26762	broad.mit.edu	37	5	156482407	156482407	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-7298-01A-11D-2024-08	TCGA-DU-7298-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04a9dc1-2a7d-464f-9e72-92e2afe0d451	004f58de-822a-4232-8784-e3a1bc15783d	g.chr5:156482407C>G	ENST00000339252.3	-	2	716	c.184G>C	c.(184-186)Gtc>Ctc	p.V62L	HAVCR1_ENST00000522693.1_Missense_Mutation_p.V62L|HAVCR1_ENST00000425854.1_Missense_Mutation_p.V62L|HAVCR1_ENST00000523175.1_Missense_Mutation_p.V62L|HAVCR1_ENST00000544197.1_Missense_Mutation_p.V62L	NM_012206.2	NP_036338.2	Q96D42	HAVR1_HUMAN	hepatitis A virus cellular receptor 1	62	Ig-like V-type.				interspecies interaction between organisms	integral to membrane	receptor activity			endometrium(3)|large_intestine(2)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TTGGTCCAGACAATGCCATTT	0.478													10	26					0	0	0.008291	0	0	G	156482407	C	G	156482407	3	3	113	1	0	0	0	0	1	0	0	0	7014	478	17	5	938	5	HAVCR1	5	156482407	Missense_Mutation	SNP	C	TCGA-DU-7298-01A-11D-2024-08	16279024	156482407	24432853	24	20660											
RIPK1	8737	broad.mit.edu	37	6	3105782	3105782	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DU-7298-01A-11D-2024-08	TCGA-DU-7298-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04a9dc1-2a7d-464f-9e72-92e2afe0d451	004f58de-822a-4232-8784-e3a1bc15783d	g.chr6:3105782delG	ENST00000259808.4	+	9	1371	c.1073delG	c.(1072-1074)tggfs	p.W358fs	RIPK1_ENST00000541791.1_Frame_Shift_Del_p.W312fs|RIPK1_ENST00000380409.2_Frame_Shift_Del_p.W358fs|RIPK1_ENST00000479389.1_3'UTR			Q13546	RIPK1_HUMAN	receptor (TNFRSF)-interacting serine-threonine kinase 1	358	Interaction with SQSTM1.				activation of caspase activity|activation of JUN kinase activity|activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|induction of necroptosis by extracellular signals|innate immune response|MyD88-independent toll-like receptor signaling pathway|positive regulation of anti-apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 production|positive regulation of NF-kappaB transcription factor activity|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|protein autophosphorylation|regulation of ATP:ADP antiporter activity|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|death-inducing signaling complex|endosome membrane|mitochondrion|receptor complex	ATP binding|death domain binding|death receptor binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	23	Ovarian(93;0.0386)	all_hematologic(90;0.0895)				GAGGAGTCCTGGTTTGCTCCT	0.527													47	111	---	---	---	---						-	3105782	G	-	3105782	7	5	113	1	0	1	0	1	0	0	0	0	13432	1357	47	0	1103	0	RIPK1	6	3105782	Frame_Shift_Del	DEL	G	TCGA-DU-7298-01A-11D-2024-08		3105782	168009285	25	20661											
KIF13A	63971	broad.mit.edu	37	6	17764345	17764345	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-7298-01A-11D-2024-08	TCGA-DU-7298-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04a9dc1-2a7d-464f-9e72-92e2afe0d451	004f58de-822a-4232-8784-e3a1bc15783d	g.chr6:17764345T>C	ENST00000259711.6	-	39	5519	c.5414A>G	c.(5413-5415)cAa>cGa	p.Q1805R	KIF13A_ENST00000378843.2_Missense_Mutation_p.Q1757R|KIF13A_ENST00000378826.2_Missense_Mutation_p.Q1770R|KIF13A_ENST00000378816.5_Missense_Mutation_p.Q1770R|KIF13A_ENST00000378814.5_Intron	NM_022113.5	NP_071396.4	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	1805					cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			ACATACTCATTGACAGCACAG	0.493													8	22					0	0	0.004482	0	0	C	17764345	T	C	17764345	3	2	113	1	0	0	0	0	1	0	0	0	8316	1812	63	3	32	3	KIF13A	6	17764345	Missense_Mutation	SNP	T	TCGA-DU-7298-01A-11D-2024-08	14658563	17764345	153350722	26	20662											
REV3L	5980	broad.mit.edu	37	6	111695954	111695954	+	Missense_Mutation	SNP	C	C	G	rs61756663		TCGA-DU-7298-01A-11D-2024-08	TCGA-DU-7298-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04a9dc1-2a7d-464f-9e72-92e2afe0d451	004f58de-822a-4232-8784-e3a1bc15783d	g.chr6:111695954C>G	ENST00000435970.1	-	15	4186	c.3370G>C	c.(3370-3372)Gat>Cat	p.D1124H	REV3L_ENST00000368805.1_Missense_Mutation_p.D1202H|REV3L_ENST00000358835.3_Missense_Mutation_p.D1202H|REV3L_ENST00000368802.3_Missense_Mutation_p.D1202H			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	1202					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		TTTCCATCATCTACTAGTTTA	0.333								DNA polymerases (catalytic subunits)					3	53					0	0	0.004672	0	0	G	111695954	C	G	111695954	3	3	113	1	0	0	0	0	1	0	0	0	13292	913	32	4	5868	4	REV3L	6	111695954	Missense_Mutation	SNP	C	TCGA-DU-7298-01A-11D-2024-08	93931609	111695954	59419113	27	20663											
SCIN	85477	broad.mit.edu	37	7	12668832	12668832	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-7298-01A-11D-2024-08	TCGA-DU-7298-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04a9dc1-2a7d-464f-9e72-92e2afe0d451	004f58de-822a-4232-8784-e3a1bc15783d	g.chr7:12668832A>T	ENST00000297029.5	+	9	1405	c.1304A>T	c.(1303-1305)cAg>cTg	p.Q435L	SCIN_ENST00000445618.2_Missense_Mutation_p.Q188L|SCIN_ENST00000519209.1_Missense_Mutation_p.Q188L	NM_001112706.2	NP_001106177.1	Q9Y6U3	ADSV_HUMAN	scinderin	435	Ca(2+)-dependent actin binding.				actin filament capping|actin filament severing|actin nucleation|calcium ion-dependent exocytosis|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of megakaryocyte differentiation|positive regulation of secretion|regulation of chondrocyte differentiation	cell cortex|cytoskeleton	1-phosphatidylinositol binding|actin filament binding|calcium ion binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	17				UCEC - Uterine corpus endometrioid carcinoma (126;0.195)		CCCAGAGGACAGATTATCTAC	0.413													22	66					0	0	0.00333	0	0	T	12668832	A	T	12668832	3	4	113	1	0	0	0	0	1	0	0	0	13959	188	7	5	1338	5	SCIN	7	12668832	Missense_Mutation	SNP	A	TCGA-DU-7298-01A-11D-2024-08		12668832	146469831	28	20664											
CPVL	54504	broad.mit.edu	37	7	29134736	29134736	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-7298-01A-11D-2024-08	TCGA-DU-7298-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04a9dc1-2a7d-464f-9e72-92e2afe0d451	004f58de-822a-4232-8784-e3a1bc15783d	g.chr7:29134736C>T	ENST00000409850.1	-	9	1072	c.426G>A	c.(424-426)tgG>tgA	p.W142*	CPVL_ENST00000396276.3_Nonsense_Mutation_p.W142*|CPVL_ENST00000265394.5_Nonsense_Mutation_p.W142*			Q9H3G5	CPVL_HUMAN	carboxypeptidase, vitellogenic-like	142					proteolysis		protein binding|serine-type carboxypeptidase activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)	28						GCGTTGTGGTCCAGGGGAAGT	0.507													11	42					0	0	0.001368	0	0	T	29134736	C	T	29134736	4	4	113	1	0	0	0	0	0	1	0	0	3858	856	30	2	1040	2	CPVL	7	29134736	Nonsense_Mutation	SNP	C	TCGA-DU-7298-01A-11D-2024-08	16465904	29134736	130003927	29	20665											
MED22	6837	broad.mit.edu	37	9	136211169	136211169	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-7298-01A-11D-2024-08	TCGA-DU-7298-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04a9dc1-2a7d-464f-9e72-92e2afe0d451	004f58de-822a-4232-8784-e3a1bc15783d	g.chr9:136211169A>G	ENST00000491289.1	-	4	805	c.224T>C	c.(223-225)cTg>cCg	p.L75P	MED22_ENST00000476080.1_Missense_Mutation_p.L75P|MED22_ENST00000471524.1_5'UTR|MED22_ENST00000371999.1_Missense_Mutation_p.L69P|MED22_ENST00000344469.5_Missense_Mutation_p.L75P|MED22_ENST00000343730.5_Missense_Mutation_p.L75P			Q15528	MED22_HUMAN	mediator complex subunit 22	75					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|mediator complex|soluble fraction	protein binding			endometrium(1)|large_intestine(1)|ovary(1)|urinary_tract(1)	4				OV - Ovarian serous cystadenocarcinoma(145;1.14e-06)|Epithelial(140;8.2e-06)|all cancers(34;6.94e-05)		CAGCTTCATCAGGGACTCGCC	0.627													3	48					0	0	0.004672	0	0	G	136211169	A	G	136211169	3	3	113	1	0	0	0	0	1	0	0	0	9490	188	7	3	396	3	MED22	9	136211169	Missense_Mutation	SNP	A	TCGA-DU-7298-01A-11D-2024-08		136211169	5002262	30	20666											
MAP3K8	1326	broad.mit.edu	37	10	30739296	30739296	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-7298-01A-11D-2024-08	TCGA-DU-7298-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04a9dc1-2a7d-464f-9e72-92e2afe0d451	004f58de-822a-4232-8784-e3a1bc15783d	g.chr10:30739296T>C	ENST00000263056.1	+	5	1310	c.614T>C	c.(613-615)cTc>cCc	p.L205P	MAP3K8_ENST00000542547.1_Missense_Mutation_p.L205P|MAP3K8_ENST00000375321.1_Missense_Mutation_p.L205P	NM_001244134.1|NM_005204.3	NP_001231063.1|NP_005195.2	P41279	M3K8_HUMAN	mitogen-activated protein kinase kinase kinase 8	205	Protein kinase.				cell cycle|T cell costimulation	cytosol	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		Prostate(175;0.151)				ACTGTCCATCTCTTTATGGAA	0.488													4	78					0	0	0.000248	0	0	C	30739296	T	C	30739296	3	2	113	1	0	0	0	0	1	0	0	0	9306	1551	54	3	624	3	MAP3K8	10	30739296	Missense_Mutation	SNP	T	TCGA-DU-7298-01A-11D-2024-08		30739296	104795451	31	20667											
DCDC1	341019	broad.mit.edu	37	11	31312399	31312399	+	Splice_Site	SNP	T	T	C			TCGA-DU-7298-01A-11D-2024-08	TCGA-DU-7298-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04a9dc1-2a7d-464f-9e72-92e2afe0d451	004f58de-822a-4232-8784-e3a1bc15783d	g.chr11:31312399T>C	ENST00000597505.1	-	5	754	c.755A>G	c.(754-756)gAc>gGc	p.D252G	DCDC1_ENST00000452803.1_Splice_Site_p.D252G			P59894	DCDC1_HUMAN	doublecortin domain containing 1	252	Doublecortin.				intracellular signal transduction					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					CAACAGATGGTCTAGAAGATA	0.338													14	20					0	0	0.00245	0	0	C	31312399	T	C	31312399	5	2	113	1	0	0	0	0	0	0	1	0	4307	1681	58	3	321	3	DCDC1	11	31312399	Splice_Site	SNP	T	TCGA-DU-7298-01A-11D-2024-08		31312399	103694117	32	20668											
CREBZF	58487	broad.mit.edu	37	11	85375242	85375244	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-DU-7298-01A-11D-2024-08	TCGA-DU-7298-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04a9dc1-2a7d-464f-9e72-92e2afe0d451	004f58de-822a-4232-8784-e3a1bc15783d	g.chr11:85375242_85375244delCTT	ENST00000527447.1	-	1	902_904	c.676_678delAAG	c.(676-678)aagdel	p.K226del	CREBZF_ENST00000531515.1_Intron|CREBZF_ENST00000534224.1_Intron|CREBZF_ENST00000398294.2_In_Frame_Del_p.K144del	NM_001039618.2	NP_001034707.1	Q9NS37	ZHANG_HUMAN	CREB/ATF bZIP transcription factor	226					negative regulation of gene expression, epigenetic|negative regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|response to virus	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.K226delK(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	9		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)				TCACGTACTCCTTCTTCTTCAGT	0.665											OREG0021274	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	106	---	---	---	---						-	85375244	CTT	-	85375242	7	5	113	1	0	1	0	1	0	0	0	0	3886	680	24	0	390	0	CREBZF	11	85375242	In_Frame_Del	DEL	CTT	TCGA-DU-7298-01A-11D-2024-08	54062843	85375242	49631274	33	20669											
EIF4B	1975	broad.mit.edu	37	12	53431273	53431273	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-7298-01A-11D-2024-08	TCGA-DU-7298-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04a9dc1-2a7d-464f-9e72-92e2afe0d451	004f58de-822a-4232-8784-e3a1bc15783d	g.chr12:53431273A>G	ENST00000262056.9	+	11	1713	c.1387A>G	c.(1387-1389)Aaa>Gaa	p.K463E	RP11-983P16.4_ENST00000552905.1_RNA|EIF4B_ENST00000416762.3_Missense_Mutation_p.K424E|EIF4B_ENST00000420463.3_Missense_Mutation_p.K468E	NM_001417.4	NP_001408.2	P23588	IF4B_HUMAN	eukaryotic translation initiation factor 4B	463					insulin receptor signaling pathway|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	nucleotide binding|translation initiation factor activity			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)	22						TCCAACTTCTAAACCTCCCAA	0.478													14	19					0	0	0.008871	0	0	G	53431273	A	G	53431273	3	3	113	1	0	0	0	0	1	0	0	0	5055	363	13	3	1429	3	EIF4B	12	53431273	Missense_Mutation	SNP	A	TCGA-DU-7298-01A-11D-2024-08		53431273	80420622	34	20670											
SELPLG	6404	broad.mit.edu	37	12	109017462	109017462	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7298-01A-11D-2024-08	TCGA-DU-7298-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04a9dc1-2a7d-464f-9e72-92e2afe0d451	004f58de-822a-4232-8784-e3a1bc15783d	g.chr12:109017462C>T	ENST00000388962.3	-	3	751	c.592G>A	c.(592-594)Gcc>Acc	p.A198T	SELPLG_ENST00000550948.1_Missense_Mutation_p.A208T|SELPLG_ENST00000228463.6_Missense_Mutation_p.A224T	NM_003006.4	NP_002997.2	Q14242	SELPL_HUMAN	selectin P ligand	208	12 X 10 AA tandem repeats.				blood coagulation|cellular response to interleukin-6	integral to plasma membrane|membrane fraction	bacterial cell surface binding|receptor binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|prostate(3)|skin(1)	12						GCTTCCATGGCTGCTGGTGCA	0.622													10	34					0	0	0.008291	0	0	T	109017462	C	T	109017462	3	4	113	1	0	0	0	0	1	0	0	0	14074	797	28	2	620	2	SELPLG	12	109017462	Missense_Mutation	SNP	C	TCGA-DU-7298-01A-11D-2024-08	55586189	109017462	24834433	35	20671											
ACIN1	22985	broad.mit.edu	37	14	23564434	23564434	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-7298-01A-11D-2024-08	TCGA-DU-7298-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04a9dc1-2a7d-464f-9e72-92e2afe0d451	004f58de-822a-4232-8784-e3a1bc15783d	g.chr14:23564434C>G	ENST00000262710.1	-	1	389	c.62G>C	c.(61-63)cGa>cCa	p.R21P	ACIN1_ENST00000457657.1_Missense_Mutation_p.R21P|C14orf119_ENST00000319074.4_5'UTR|ACIN1_ENST00000555053.1_Missense_Mutation_p.R21P	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	21					apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding			breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		CTCTACCCCTCGATTACCACT	0.592													8	98					0	0	0.004482	0	0	G	23564434	C	G	23564434	3	3	113	1	0	0	0	0	1	0	0	0	142	884	31	5	4186	5	ACIN1	14	23564434	Missense_Mutation	SNP	C	TCGA-DU-7298-01A-11D-2024-08		23564434	83785106	36	20672											
JPH4	84502	broad.mit.edu	37	14	24040638	24040638	+	Silent	SNP	G	G	A			TCGA-DU-7298-01A-11D-2024-08	TCGA-DU-7298-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04a9dc1-2a7d-464f-9e72-92e2afe0d451	004f58de-822a-4232-8784-e3a1bc15783d	g.chr14:24040638G>A	ENST00000397118.3	-	6	2204	c.1302C>T	c.(1300-1302)tcC>tcT	p.S434S	JPH4_ENST00000356300.4_Silent_p.S434S|JPH4_ENST00000544177.1_Silent_p.S99S	NM_032452.2	NP_115828.2	Q96JJ6	JPH4_HUMAN	junctophilin 4	434					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane				endometrium(1)|large_intestine(2)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00654)		GCTCCGTGTCGGAACCTTCTG	0.617													6	43					0	0	0.001168	0	0	A	24040638	G	A	24040638	2	1	113	1	0	0	0	0	0	0	0	1	8007	1103	39	1		1	JPH4	14	24040638	Silent	SNP	G	TCGA-DU-7298-01A-11D-2024-08	476204	24040638	83308902	37	20673											
GLOD4	51031	broad.mit.edu	37	17	685481	685481	+	Silent	SNP	T	T	C			TCGA-DU-7298-01A-11D-2024-08	TCGA-DU-7298-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04a9dc1-2a7d-464f-9e72-92e2afe0d451	004f58de-822a-4232-8784-e3a1bc15783d	g.chr17:685481T>C	ENST00000301329.6	-	1	100	c.15A>G	c.(13-15)agA>agG	p.R5R	GLOD4_ENST00000301328.5_Silent_p.R5R|GLOD4_ENST00000536578.1_5'UTR	NM_016080.3	NP_057164.3	Q9HC38	GLOD4_HUMAN	glyoxalase domain containing 4	5						mitochondrion				endometrium(1)|large_intestine(1)|prostate(1)	3				UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		AGTGCAGAGCTCTGCGAGCAG	0.662													4	17					0	0	0.000602	0	0	C	685481	T	C	685481	2	2	113	1	0	0	0	0	0	0	0	1	6492	1548	54	3		3	GLOD4	17	685481	Silent	SNP	T	TCGA-DU-7298-01A-11D-2024-08		685481	80509729	38	20674											
TP53	7157	broad.mit.edu	37	17	7578177	7578177	+	Splice_Site	SNP	C	C	T			TCGA-DU-7298-01A-11D-2024-08	TCGA-DU-7298-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04a9dc1-2a7d-464f-9e72-92e2afe0d451	004f58de-822a-4232-8784-e3a1bc15783d	g.chr17:7578177C>T	ENST00000420246.2	-	6	804	c.672G>A	c.(670-672)gaG>gaA	p.E224E	TP53_ENST00000413465.2_Splice_Site_p.E224E|TP53_ENST00000455263.2_Splice_Site_p.E224E|TP53_ENST00000574684.1_Intron|TP53_ENST00000359597.4_Splice_Site_p.E224E|TP53_ENST00000445888.2_Splice_Site_p.E224E|TP53_ENST00000269305.4_Splice_Site_p.E224E	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	224	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> V (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.E224D(20)|p.?(13)|p.E224E(12)|p.0?(8)|p.E131D(3)|p.E131E(2)|p.V218_E224delVPYEPPE(1)|p.V225fs*24(1)|p.E224_V225insXX(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)		CAAACCAGACCTCAGGCGGCT	0.532		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)			11	11					0	0	0.001368	0	0	T	7578177	C	T	7578177	5	4	113	1	0	0	0	0	0	0	1	0	16442	695	24	2	622	2	TP53	17	7578177	Splice_Site	SNP	C	TCGA-DU-7298-01A-11D-2024-08	6892696	7578177	73617033	39	20675											
TP53	7157	broad.mit.edu	37	17	7578271	7578271	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-7298-01A-11D-2024-08	TCGA-DU-7298-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04a9dc1-2a7d-464f-9e72-92e2afe0d451	004f58de-822a-4232-8784-e3a1bc15783d	g.chr17:7578271T>G	ENST00000420246.2	-	6	710	c.578A>C	c.(577-579)cAt>cCt	p.H193P	TP53_ENST00000413465.2_Missense_Mutation_p.H193P|TP53_ENST00000455263.2_Missense_Mutation_p.H193P|TP53_ENST00000574684.1_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.H193P|TP53_ENST00000445888.2_Missense_Mutation_p.H193P|TP53_ENST00000269305.4_Missense_Mutation_p.H193P	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	193	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in LFS; germline mutation and in sporadic cancers; somatic mutation).|H -> Y (in sporadic cancers; somatic mutation).|QH -> HN (in a sporadic cancer; somatic mutation).|QH -> HY (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.H193R(80)|p.H193L(42)|p.H193P(18)|p.0?(8)|p.?(6)|p.H61R(4)|p.H100R(4)|p.H100L(4)|p.H61L(4)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.H193fs*16(3)|p.P191fs*53(2)|p.H61P(2)|p.H100P(2)|p.A189fs*53(1)|p.P191fs*6(1)|p.H193_I195delHLI(1)|p.P59_E66>Q(1)|p.P191fs*15(1)|p.P98_E105>Q(1)|p.H193_I195>AP(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)		TCGGATAAGATGCTGAGGAGG	0.562		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)			6	17					0	0	0.001984	0	0	G	7578271	T	G	7578271	3	3	113	1	0	0	0	0	1	0	0	0	16442	1464	51	4	716	4	TP53	17	7578271	Missense_Mutation	SNP	T	TCGA-DU-7298-01A-11D-2024-08	94	7578271	73616939	40	20676											
CDRT1	374286	broad.mit.edu	37	17	15510998	15510998	+	Splice_Site	SNP	C	C	A			TCGA-DU-7298-01A-11D-2024-08	TCGA-DU-7298-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04a9dc1-2a7d-464f-9e72-92e2afe0d451	004f58de-822a-4232-8784-e3a1bc15783d	g.chr17:15510998C>A	ENST00000455584.2	-	12	2096		c.e12-1		CDRT1_ENST00000395906.3_Splice_Site																							TGTACTCATTCTAACAAGGGA	0.488													16	16					1.99824e-07	1.39136e-06	0.00499	1	0	A	15510998	C	A	15510998	5	1	113	1	0	0	0	0	0	0	1	0	3196	927	32	4	1164	4	CDRT1	17	15510998	Splice_Site	SNP	C	TCGA-DU-7298-01A-11D-2024-08	7932727	15510998	65684212	41	20677											
FBXO47	494188	broad.mit.edu	37	17	37107930	37107930	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7298-01A-11D-2024-08	TCGA-DU-7298-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04a9dc1-2a7d-464f-9e72-92e2afe0d451	004f58de-822a-4232-8784-e3a1bc15783d	g.chr17:37107930C>T	ENST00000378079.2	-	6	719	c.520G>A	c.(520-522)Ggt>Agt	p.G174S		NM_001008777.2	NP_001008777.2	Q5MNV8	FBX47_HUMAN	F-box protein 47	174										NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)	20						TCATCCCAACCTGCTGTTAAG	0.423													14	42					0	0	0.00245	0	0	T	37107930	C	T	37107930	3	4	113	1	0	0	0	0	1	0	0	0	5789	681	24	2	862	2	FBXO47	17	37107930	Missense_Mutation	SNP	C	TCGA-DU-7298-01A-11D-2024-08	21596932	37107930	44087280	42	20678											
NEDD4L	23327	broad.mit.edu	37	18	55912729	55912729	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-7298-01A-11D-2024-08	TCGA-DU-7298-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04a9dc1-2a7d-464f-9e72-92e2afe0d451	004f58de-822a-4232-8784-e3a1bc15783d	g.chr18:55912729A>G	ENST00000382850.4	+	3	306	c.193A>G	c.(193-195)Aca>Gca	p.T65A	NEDD4L_ENST00000456173.2_5'UTR|NEDD4L_ENST00000400345.3_Missense_Mutation_p.T65A|NEDD4L_ENST00000431212.2_5'UTR|NEDD4L_ENST00000256832.7_5'UTR|NEDD4L_ENST00000589054.1_Intron|NEDD4L_ENST00000586263.1_Missense_Mutation_p.T57A|NEDD4L_ENST00000357895.5_Missense_Mutation_p.T57A|NEDD4L_ENST00000456986.1_5'UTR|NEDD4L_ENST00000256830.9_Missense_Mutation_p.T65A|NEDD4L_ENST00000356462.6_Missense_Mutation_p.T65A|NEDD4L_ENST00000435432.2_5'UTR|NEDD4L_ENST00000588516.1_3'UTR	NM_015277.5	NP_056092.2	Q96PU5	NED4L_HUMAN	neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase	65	C2.				cellular sodium ion homeostasis|excretion|interspecies interaction between organisms|positive regulation of endocytosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of protein catabolic process|response to metal ion|sodium ion transport|water homeostasis	cytoplasm	protein binding|sodium channel regulator activity|ubiquitin-protein ligase activity			breast(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(11)|ovary(1)|prostate(4)	37						CCAGACAAAAACAATTAAAAA	0.333													2	6					0	0	0.004672	0	0	G	55912729	A	G	55912729	3	3	113	1	0	0	0	0	1	0	0	0	10358	43	2	3	231	3	NEDD4L	18	55912729	Missense_Mutation	SNP	A	TCGA-DU-7298-01A-11D-2024-08		55912729	22164519	43	20679											
GNAS	2778	broad.mit.edu	37	20	57429499	57429500	+	In_Frame_Ins	INS	-	-	GCAGCCCCT			TCGA-DU-7298-01A-11D-2024-08	TCGA-DU-7298-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04a9dc1-2a7d-464f-9e72-92e2afe0d451	004f58de-822a-4232-8784-e3a1bc15783d	g.chr20:57429499_57429500insGCAGCCCCT	ENST00000371100.4	+	1	1731_1732	c.1179_1180insGCAGCCCCT	c.(1180-1182)gca>GCAGCCCCTgca	p.394_394A>AAPA	GNAS_ENST00000371102.4_In_Frame_Ins_p.394_394A>AAPA|GNAS_ENST00000371075.3_Intron|GNAS_ENST00000371099.2_In_Frame_Ins_p.394_394A>AAPA|GNAS_ENST00000313949.7_Intron|GNAS_ENST00000371098.2_Intron|GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000306120.3_In_Frame_Ins_p.334_335insPLQ	NM_001077490.1|NM_080425.2	NP_001070958.1|NP_536350.2	P63092	GNAS2_HUMAN	GNAS complex locus	0					activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity			adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			CCGCTGCCAGGGCAGCCCCTGC	0.688			Mis		pituitary adenoma		"McCune-Albright syndrome; pseudohypoparathyroidism, type IA"			TSP Lung(22;0.16)			3	5	---	---	---	---						GCAGCCCCT	57429500	-	GCAGCCCCT	57429499	7	5	113	1	0	1	1	0	0	0	0	0	6552	1232	43	0	1923	0	GNAS	20	57429499	In_Frame_Ins	INS	-	TCGA-DU-7298-01A-11D-2024-08		57429499	5596021	44	20680											
SMTN	6525	broad.mit.edu	37	22	31484563	31484563	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-7298-01A-11D-2024-08	TCGA-DU-7298-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04a9dc1-2a7d-464f-9e72-92e2afe0d451	004f58de-822a-4232-8784-e3a1bc15783d	g.chr22:31484563A>G	ENST00000333137.7	+	4	483	c.265A>G	c.(265-267)Atg>Gtg	p.M89V	SMTN_ENST00000347557.2_Missense_Mutation_p.M89V|SMTN_ENST00000358743.1_Missense_Mutation_p.M89V|SMTN_ENST00000475548.1_3'UTR	NM_001207018.1|NM_134269.2	NP_001193947.1|NP_599031.1	P53814	SMTN_HUMAN	smoothelin	89					muscle organ development|smooth muscle contraction	actin cytoskeleton|cytoplasm	actin binding|structural constituent of muscle			breast(2)|endometrium(2)|large_intestine(5)|lung(9)|ovary(3)|pancreas(1)|prostate(3)	25						GCTGGAGTCCATGAACGATGT	0.637													7	46					0	0	0.00308	0	0	G	31484563	A	G	31484563	3	3	113	1	0	0	0	0	1	0	0	0	14868	217	8	3	275	3	SMTN	22	31484563	Missense_Mutation	SNP	A	TCGA-DU-7298-01A-11D-2024-08		31484563	19820003	45	20681											
PIM3	415116	broad.mit.edu	37	22	50354613	50354613	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DU-7298-01A-11D-2024-08	TCGA-DU-7298-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04a9dc1-2a7d-464f-9e72-92e2afe0d451	004f58de-822a-4232-8784-e3a1bc15783d	g.chr22:50354613delC	ENST00000360612.4	+	1	453	c.18delC	c.(16-18)ttcfs	p.F6fs		NM_001001852.3	NP_001001852.2	Q86V86	PIM3_HUMAN	pim-3 oncogene	6					cell cycle|negative regulation of apoptosis|regulation of mitotic cell cycle		ATP binding|protein binding|protein serine/threonine kinase activity						all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236)		BRCA - Breast invasive adenocarcinoma(115;0.196)|LUAD - Lung adenocarcinoma(64;0.247)		TCTCCAAGTTCGGCTCCCTGG	0.801													2	4	---	---	---	---						-	50354613	C	-	50354613	7	5	113	1	0	1	0	1	0	0	0	0	11977	883	31	0	20	0	PIM3	22	50354613	Frame_Shift_Del	DEL	C	TCGA-DU-7298-01A-11D-2024-08	18870050	50354613	949953	46	20682											
ATRX	546	broad.mit.edu	37	X	76937745	76937745	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DU-7298-01A-11D-2024-08	TCGA-DU-7298-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04a9dc1-2a7d-464f-9e72-92e2afe0d451	004f58de-822a-4232-8784-e3a1bc15783d	g.chrX:76937745delT	ENST00000373344.5	-	9	3217	c.3003delA	c.(3001-3003)aaafs	p.K1001fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.K963fs	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1001					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)	TTTTAATTACTTTTTTCTTAA	0.338			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						63	109	---	---	---	---						-	76937745	T	-	76937745	7	5	113	1	0	1	0	1	0	0	0	0	1206	1606	56	0	4583	0	ATRX	23	76937745	Frame_Shift_Del	DEL	T	TCGA-DU-7298-01A-11D-2024-08		76937745	78332815	47	20683											
NRK	203447	broad.mit.edu	37	X	105167163	105167163	+	Silent	SNP	C	C	T			TCGA-DU-7298-01A-11D-2024-08	TCGA-DU-7298-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04a9dc1-2a7d-464f-9e72-92e2afe0d451	004f58de-822a-4232-8784-e3a1bc15783d	g.chrX:105167163C>T	ENST00000428173.2	+	18	2970	c.2667C>T	c.(2665-2667)aaC>aaT	p.N889N	NRK_ENST00000243300.9_Silent_p.N888N			Q7Z2Y5	NRK_HUMAN	Nik related kinase	888							ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						ACTTGACAAACGAATGGGTAG	0.418										HNSCC(51;0.14)			51	88					0	0	0.00361	0	0	T	105167163	C	T	105167163	2	4	113	1	0	0	0	0	0	0	0	1	10703	535	19	1		1	NRK	23	105167163	Silent	SNP	C	TCGA-DU-7298-01A-11D-2024-08	28229418	105167163	50103397	48	20684											
CNGA2	1260	broad.mit.edu	37	X	150909279	150909279	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-7298-01A-11D-2024-08	TCGA-DU-7298-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04a9dc1-2a7d-464f-9e72-92e2afe0d451	004f58de-822a-4232-8784-e3a1bc15783d	g.chrX:150909279C>G	ENST00000329903.4	+	4	421	c.388C>G	c.(388-390)Cta>Gta	p.L130V		NM_005140.1	NP_005131.1	Q16280	CNGA2_HUMAN	cyclic nucleotide gated channel alpha 2	130					response to stimulus|sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2)	49	Acute lymphoblastic leukemia(192;6.56e-05)					GAAATTTGAACTATTTGTCTT	0.527													40	124					0	0	0.00361	0	0	G	150909279	C	G	150909279	3	3	113	1	0	0	0	0	1	0	0	0	3620	564	20	4	402	4	CNGA2	23	150909279	Missense_Mutation	SNP	C	TCGA-DU-7298-01A-11D-2024-08	45742116	150909279	4361281	49	20685											
MMEL1	79258	broad.mit.edu	37	1	2526254	2526254	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-7299-01A-21D-2024-08	TCGA-DU-7299-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23a9a0b4-0a13-4e5b-941b-8174a1c8f301	ee7cefc3-bfbf-4b30-9509-c7b6084b33d4	g.chr1:2526254G>T	ENST00000288709.6	-	17	1876	c.1636C>A	c.(1636-1638)Ctt>Att	p.L546I	MMEL1_ENST00000378412.3_Missense_Mutation_p.L555I|MMEL1_ENST00000502556.1_Missense_Mutation_p.L398I	NM_033467.3	NP_258428.2	Q495T6	MMEL1_HUMAN	membrane metallo-endopeptidase-like 1	555					proteolysis	extracellular region|integral to membrane|intracellular membrane-bounded organelle	metal ion binding|metalloendopeptidase activity			cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1)	27	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)		TTTTCCCGAAGCTTCCTGAGG	0.627													4	68					2.56e-06	2.90133e-06	0.009096	1	0	T	2526254	G	T	2526254	3	4	114	1	0	0	0	0	1	0	0	0	9694	971	34	4	708	4	MMEL1	1	2526254	Missense_Mutation	SNP	G	TCGA-DU-7299-01A-21D-2024-08		2526254	246724367	1	20686											
RERE	473	broad.mit.edu	37	1	8716199	8716200	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-DU-7299-01A-21D-2024-08	TCGA-DU-7299-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23a9a0b4-0a13-4e5b-941b-8174a1c8f301	ee7cefc3-bfbf-4b30-9509-c7b6084b33d4	g.chr1:8716199_8716200delCT	ENST00000337907.3	-	3	791_792	c.157_158delAG	c.(157-159)agtfs	p.S53fs	RERE_ENST00000400908.2_Frame_Shift_Del_p.S53fs|RERE_ENST00000400907.2_Frame_Shift_Del_p.S53fs	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	53					multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		ACTGTGATCACTCTCAGCATAA	0.465													115	286	---	---	---	---						-	8716200	CT	-	8716199	7	5	114	1	0	1	0	1	0	0	0	0	13283	565	20	0	4630	0	RERE	1	8716199	Frame_Shift_Del	DEL	CT	TCGA-DU-7299-01A-21D-2024-08	6189945	8716199	240534422	2	20687											
PRAMEF7	441871	broad.mit.edu	37	1	12979789	12979789	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-7299-01A-21D-2024-08	TCGA-DU-7299-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23a9a0b4-0a13-4e5b-941b-8174a1c8f301	ee7cefc3-bfbf-4b30-9509-c7b6084b33d4	g.chr1:12979789G>T	ENST00000361079.2	+	4	1064	c.981G>T	c.(979-981)agG>agT	p.R327S						PRAME family member 7											endometrium(2)|kidney(5)|large_intestine(3)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)	18	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TGGACCTGAGGGGTGTCACGC	0.572													9	163					0.00621372	0.00674254	0.058154	1	0	T	12979789	G	T	12979789	3	4	114	1	0	0	0	0	1	0	0	0	12490	1223	43	5	991	5	PRAMEF7	1	12979789	Missense_Mutation	SNP	G	TCGA-DU-7299-01A-21D-2024-08	4263590	12979789	236270832	3	20688											
GALE	2582	broad.mit.edu	37	1	24124673	24124673	+	Silent	SNP	G	G	A			TCGA-DU-7299-01A-21D-2024-08	TCGA-DU-7299-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23a9a0b4-0a13-4e5b-941b-8174a1c8f301	ee7cefc3-bfbf-4b30-9509-c7b6084b33d4	g.chr1:24124673G>A	ENST00000374497.3	-	5	376	c.285C>T	c.(283-285)ggC>ggT	p.G95G		NM_000403.3|NM_001008216.1|NM_001127621.1	NP_000394.2|NP_001008217.1|NP_001121093.1	Q14376	GALE_HUMAN	UDP-galactose-4-epimerase	95					galactose catabolic process	cytosol	coenzyme binding|protein homodimerization activity|UDP-glucose 4-epimerase activity			endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(2)	8		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;1.79e-24)|Colorectal(126;4.8e-08)|COAD - Colon adenocarcinoma(152;2.83e-06)|GBM - Glioblastoma multiforme(114;4.22e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|KIRC - Kidney renal clear cell carcinoma(1967;0.00314)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0827)|LUSC - Lung squamous cell carcinoma(448;0.184)		GCACCGACTCGCCCACGGCCT	0.557													22	44					0	0	0.0918	0	0	A	24124673	G	A	24124673	2	1	114	1	0	0	0	0	0	0	0	1	6242	1074	38	1		1	GALE	1	24124673	Silent	SNP	G	TCGA-DU-7299-01A-21D-2024-08	11144884	24124673	225125948	4	20689											
VPS72	6944	broad.mit.edu	37	1	151158055	151158055	+	Silent	SNP	C	C	T			TCGA-DU-7299-01A-21D-2024-08	TCGA-DU-7299-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23a9a0b4-0a13-4e5b-941b-8174a1c8f301	ee7cefc3-bfbf-4b30-9509-c7b6084b33d4	g.chr1:151158055C>T	ENST00000354473.4	-	3	348	c.312G>A	c.(310-312)ccG>ccA	p.P104P	VPS72_ENST00000496809.1_5'UTR			Q15906	VPS72_HUMAN	vacuolar protein sorting 72 homolog (S. cerevisiae)	104					chromatin modification|negative regulation of transcription from RNA polymerase II promoter	nucleus|protein complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(6)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	14	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			AGCTACCAGCCGGGGTGTTGA	0.498													17	194					0	0	0.038395	0	0	T	151158055	C	T	151158055	2	4	114	1	0	0	0	0	0	0	0	1	17277	639	23	1		1	VPS72	1	151158055	Silent	SNP	C	TCGA-DU-7299-01A-21D-2024-08	127033382	151158055	98092566	5	20690											
CACNA1S	779	broad.mit.edu	37	1	201047179	201047181	+	In_Frame_Del	DEL	TCT	TCT	-	rs9333651		TCGA-DU-7299-01A-21D-2024-08	TCGA-DU-7299-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23a9a0b4-0a13-4e5b-941b-8174a1c8f301	ee7cefc3-bfbf-4b30-9509-c7b6084b33d4	g.chr1:201047179_201047181delTCT	ENST00000362061.3	-	11	1671_1673	c.1445_1447delAGA	c.(1444-1449)aagatg>atg	p.K482del	CACNA1S_ENST00000367338.3_In_Frame_Del_p.K482del	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	482					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	AGCCCGTACATCTTCATCAGCAT	0.571													37	70	---	---	---	---						-	201047181	TCT	-	201047179	7	5	114	1	0	1	0	1	0	0	0	0	2565	1435	50	0	4310	0	CACNA1S	1	201047179	In_Frame_Del	DEL	TCT	TCGA-DU-7299-01A-21D-2024-08	49889124	201047179	48203442	6	20691											
LYST	1130	broad.mit.edu	37	1	235964233	235964233	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-7299-01A-21D-2024-08	TCGA-DU-7299-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23a9a0b4-0a13-4e5b-941b-8174a1c8f301	ee7cefc3-bfbf-4b30-9509-c7b6084b33d4	g.chr1:235964233A>C	ENST00000389794.3	-	9	4051	c.3877T>G	c.(3877-3879)Ttt>Gtt	p.F1293V	LYST_ENST00000536965.1_Missense_Mutation_p.F1293V|LYST_ENST00000389793.2_Missense_Mutation_p.F1293V			Q99698	LYST_HUMAN	lysosomal trafficking regulator	1293					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			AAACTCTCAAATACATGGGCA	0.308													3	56					0	0	0.004672	0	0	C	235964233	A	C	235964233	3	2	114	1	0	0	0	0	1	0	0	0	9174	101	4	4	7708	4	LYST	1	235964233	Missense_Mutation	SNP	A	TCGA-DU-7299-01A-21D-2024-08	34917054	235964233	13286388	7	20692											
CHRM3	1131	broad.mit.edu	37	1	240071460	240071460	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-7299-01A-21D-2024-08	TCGA-DU-7299-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23a9a0b4-0a13-4e5b-941b-8174a1c8f301	ee7cefc3-bfbf-4b30-9509-c7b6084b33d4	g.chr1:240071460A>G	ENST00000255380.4	+	5	1488	c.709A>G	c.(709-711)Atc>Gtc	p.I237V		NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	237					cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity			breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)	TGGCACAGCCATCGCTGCTTT	0.453													9	114					0	0	0.069234	0	0	G	240071460	A	G	240071460	3	3	114	1	0	0	0	0	1	0	0	0	3400	217	8	3	711	3	CHRM3	1	240071460	Missense_Mutation	SNP	A	TCGA-DU-7299-01A-21D-2024-08	4107227	240071460	9179161	8	20693											
MTIF2	4528	broad.mit.edu	37	2	55479696	55479696	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-7299-01A-21D-2024-08	TCGA-DU-7299-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23a9a0b4-0a13-4e5b-941b-8174a1c8f301	ee7cefc3-bfbf-4b30-9509-c7b6084b33d4	g.chr2:55479696T>C	ENST00000394600.3	-	9	1494	c.758A>G	c.(757-759)gAc>gGc	p.D253G	MTIF2_ENST00000263629.4_Missense_Mutation_p.D253G|MTIF2_ENST00000403721.1_Missense_Mutation_p.D253G	NM_001005369.1	NP_001005369.1	P46199	IF2M_HUMAN	mitochondrial translational initiation factor 2	253	G-domain.				regulation of translational initiation	mitochondrion	GTP binding|GTPase activity|ribosomal small subunit binding|translation initiation factor activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	24						TACGACAATGTCAGTGACCTG	0.463													37	58					0	0	0.039052	0	0	C	55479696	T	C	55479696	3	2	114	1	0	0	0	0	1	0	0	0	9982	1667	58	3	1461	3	MTIF2	2	55479696	Missense_Mutation	SNP	T	TCGA-DU-7299-01A-21D-2024-08		55479696	187719677	9	20694											
LRP1B	53353	broad.mit.edu	37	2	141128328	141128328	+	Silent	SNP	A	A	G			TCGA-DU-7299-01A-21D-2024-08	TCGA-DU-7299-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23a9a0b4-0a13-4e5b-941b-8174a1c8f301	ee7cefc3-bfbf-4b30-9509-c7b6084b33d4	g.chr2:141128328A>G	ENST00000389484.3	-	71	11930	c.10959T>C	c.(10957-10959)gaT>gaC	p.D3653D		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3653	LDL-receptor class A 29.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CATGAATTCCATCACACAGCC	0.393										TSP Lung(27;0.18)			6	206					0	0	0.02938	0	0	G	141128328	A	G	141128328	2	3	114	1	0	0	0	0	0	0	0	1	9000	214	8	3		3	LRP1B	2	141128328	Silent	SNP	A	TCGA-DU-7299-01A-21D-2024-08	85648632	141128328	102071045	10	20695											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-DU-7299-01A-21D-2024-08	TCGA-DU-7299-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23a9a0b4-0a13-4e5b-941b-8174a1c8f301	ee7cefc3-bfbf-4b30-9509-c7b6084b33d4	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								29	32					0	0	0.037714	0	0	T	209113112	C	T	209113112	3	4	114	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-DU-7299-01A-21D-2024-08	67984784	209113112	34086261	11	20696											
OBSL1	23363	broad.mit.edu	37	2	220428315	220428316	+	Frame_Shift_Del	DEL	AT	AT	-			TCGA-DU-7299-01A-21D-2024-08	TCGA-DU-7299-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23a9a0b4-0a13-4e5b-941b-8174a1c8f301	ee7cefc3-bfbf-4b30-9509-c7b6084b33d4	g.chr2:220428315_220428316delAT	ENST00000404537.1	-	7	2497_2498	c.2441_2442delAT	c.(2440-2442)catfs	p.H814fs	OBSL1_ENST00000373876.1_Frame_Shift_Del_p.H814fs|OBSL1_ENST00000265318.4_Frame_Shift_Del_p.H814fs|OBSL1_ENST00000289656.3_Frame_Shift_Del_p.H401fs|OBSL1_ENST00000603926.1_Frame_Shift_Del_p.H814fs|OBSL1_ENST00000373873.4_Frame_Shift_Del_p.H814fs	NM_015311.2	NP_056126.1	O75147	OBSL1_HUMAN	obscurin-like 1	814	Ig-like 6.				cardiac myofibril assembly	intercalated disc|M band|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity						Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		GCACGAACACATGTTCTCGGGG	0.594													67	99	---	---	---	---						-	220428316	AT	-	220428315	7	5	114	1	0	1	0	1	0	0	0	0	10861	214	8	0	3460	0	OBSL1	2	220428315	Frame_Shift_Del	DEL	AT	TCGA-DU-7299-01A-21D-2024-08	11315203	220428315	22771058	12	20697											
SNED1	25992	broad.mit.edu	37	2	241989284	241989284	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7299-01A-21D-2024-08	TCGA-DU-7299-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23a9a0b4-0a13-4e5b-941b-8174a1c8f301	ee7cefc3-bfbf-4b30-9509-c7b6084b33d4	g.chr2:241989284G>A	ENST00000310397.8	+	12	1669	c.1669G>A	c.(1669-1671)Gat>Aat	p.D557N	SNED1_ENST00000469006.1_3'UTR|AC005237.4_ENST00000458377.1_RNA|SNED1_ENST00000342631.6_Missense_Mutation_p.D557N|SNED1_ENST00000405547.3_Missense_Mutation_p.D557N|SNED1_ENST00000401884.1_Missense_Mutation_p.D557N	NM_001080437.1	NP_001073906.1	Q8TER0	SNED1_HUMAN	sushi, nidogen and EGF-like domains 1	557	EGF-like 7.				cell-matrix adhesion	extracellular region	calcium ion binding			NS(1)|breast(1)|central_nervous_system(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	24		all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109)		AGGCTCCTGCGATGCCCATGA	0.692													17	57					0	0	0.049695	0	0	A	241989284	G	A	241989284	3	1	114	1	0	0	0	0	1	0	0	0	14899	1058	37	1	1715	1	SNED1	2	241989284	Missense_Mutation	SNP	G	TCGA-DU-7299-01A-21D-2024-08	21560969	241989284	1210089	13	20698											
PCDHA3	56145	broad.mit.edu	37	5	140181907	140181907	+	Silent	SNP	C	C	T			TCGA-DU-7299-01A-21D-2024-08	TCGA-DU-7299-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23a9a0b4-0a13-4e5b-941b-8174a1c8f301	ee7cefc3-bfbf-4b30-9509-c7b6084b33d4	g.chr5:140181907C>T	ENST00000522353.2	+	1	1125	c.1125C>T	c.(1123-1125)tcC>tcT	p.S375S	PCDHA2_ENST00000520672.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000532566.2_Silent_p.S375S	NM_018906.2	NP_061729.1														NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCAGCGTGTCCGACCGCGACT	0.483													39	83					0	0	0.086207	0	0	T	140181907	C	T	140181907	2	4	114	1	0	0	0	0	0	0	0	1	11572	639	23	1		1	PCDHA3	5	140181907	Silent	SNP	C	TCGA-DU-7299-01A-21D-2024-08		140181907	40733353	14	20699											
CRISP2	7180	broad.mit.edu	37	6	49663637	49663637	+	Splice_Site	SNP	A	A	G			TCGA-DU-7299-01A-21D-2024-08	TCGA-DU-7299-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23a9a0b4-0a13-4e5b-941b-8174a1c8f301	ee7cefc3-bfbf-4b30-9509-c7b6084b33d4	g.chr6:49663637A>G	ENST00000339139.4	-	9	752	c.516T>C	c.(514-516)gcT>gcC	p.A172A		NM_001142407.2|NM_001142408.2|NM_001142417.2|NM_001142435.2|NM_001261822.1|NM_003296.3	NP_001135879.1|NP_001135880.1|NP_001135889.1|NP_001135907.1|NP_001248751.1|NP_003287.1	P16562	CRIS2_HUMAN	cysteine-rich secretory protein 2	172						extracellular space				kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	19	Lung NSC(77;0.0161)		KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)			TATTATTACCACTGAAATTTG	0.348													12	25					0	0	0.080935	0	0	G	49663637	A	G	49663637	5	3	114	1	0	0	0	0	0	0	1	0	3903	173	6	3	223	3	CRISP2	6	49663637	Splice_Site	SNP	A	TCGA-DU-7299-01A-21D-2024-08		49663637	121451430	15	20700											
PRKAR1B	5575	broad.mit.edu	37	7	751125	751125	+	Silent	SNP	G	G	C			TCGA-DU-7299-01A-21D-2024-08	TCGA-DU-7299-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23a9a0b4-0a13-4e5b-941b-8174a1c8f301	ee7cefc3-bfbf-4b30-9509-c7b6084b33d4	g.chr7:751125G>C	ENST00000406797.1	-	2	192	c.18C>G	c.(16-18)gcC>gcG	p.A6A	PRKAR1B_ENST00000544935.1_Silent_p.A6A|PRKAR1B_ENST00000360274.4_Silent_p.A6A|PRKAR1B_ENST00000403562.1_Silent_p.A6A|PRKAR1B_ENST00000537384.1_Silent_p.A6A|PRKAR1B_ENST00000488474.1_5'UTR	NM_001164761.1	NP_001158233.1	P31321	KAP1_HUMAN	protein kinase, cAMP-dependent, regulatory, type I, beta	6	Dimerization and phosphorylation.				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|protein phosphorylation|regulation of insulin secretion|transmembrane transport|water transport	cAMP-dependent protein kinase complex|cytosol	cAMP binding|cAMP-dependent protein kinase regulator activity			endometrium(4)|large_intestine(1)|liver(1)|lung(10)|prostate(1)	17		Ovarian(82;0.0779)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|Epithelial(4;5.75e-19)|OV - Ovarian serous cystadenocarcinoma(56;2.01e-18)|all cancers(6;3.96e-16)|BRCA - Breast invasive adenocarcinoma(126;0.152)		CCGAGGGGCAGGCGGGCGGGG	0.647													9	63					0	0	0.058154	0	0	C	751125	G	C	751125	2	2	114	1	0	0	0	0	0	0	0	1	12556	987	35	4		4	PRKAR1B	7	751125	Silent	SNP	G	TCGA-DU-7299-01A-21D-2024-08		751125	158387538	16	20701											
ZNF138	7697	broad.mit.edu	37	7	64291898	64291898	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7299-01A-21D-2024-08	TCGA-DU-7299-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23a9a0b4-0a13-4e5b-941b-8174a1c8f301	ee7cefc3-bfbf-4b30-9509-c7b6084b33d4	g.chr7:64291898C>T	ENST00000359735.3	+	4	454	c.107C>T	c.(106-108)aCa>aTa	p.T36I	ZNF138_ENST00000397136.2_Missense_Mutation_p.T36I|ZNF138_ENST00000440155.2_Missense_Mutation_p.T67I|ZNF138_ENST00000440598.1_3'UTR|ZNF138_ENST00000437743.1_Missense_Mutation_p.T61I|ZNF138_ENST00000430838.2_3'UTR|ZNF138_ENST00000494380.1_3'UTR|ZNF138_ENST00000307355.7_Missense_Mutation_p.T93I	NM_001271637.1|NM_001271639.1	NP_001258566.1|NP_001258568.1	B4DP87	B4DP87_HUMAN	zinc finger protein 138	67					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			kidney(1)|large_intestine(3)|lung(2)|stomach(1)	7		Lung NSC(55;0.0795)|all_lung(88;0.18)				CAAAAAGTGACACTGAGCAGA	0.368													15	87					0	0	0.020292	0	0	T	64291898	C	T	64291898	3	4	114	1	0	0	0	0	1	0	0	0	17785	478	17	2	433	2	ZNF138	7	64291898	Missense_Mutation	SNP	C	TCGA-DU-7299-01A-21D-2024-08	63540773	64291898	94846765	17	20702											
PTPRZ1	5803	broad.mit.edu	37	7	121651754	121651754	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7299-01A-21D-2024-08	TCGA-DU-7299-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23a9a0b4-0a13-4e5b-941b-8174a1c8f301	ee7cefc3-bfbf-4b30-9509-c7b6084b33d4	g.chr7:121651754C>T	ENST00000393386.2	+	12	3065	c.2654C>T	c.(2653-2655)gCt>gTt	p.A885V	PTPRZ1_ENST00000483028.1_Intron|PTPRZ1_ENST00000449182.1_Intron	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	885					central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						ACTACTCATGCTGCTTCAGAG	0.473													3	53					0	0	0.004672	0	0	T	121651754	C	T	121651754	3	4	114	1	0	0	0	0	1	0	0	0	12866	797	28	2	2700	2	PTPRZ1	7	121651754	Missense_Mutation	SNP	C	TCGA-DU-7299-01A-21D-2024-08	57359856	121651754	37486909	18	20703											
SSPO	23145	broad.mit.edu	37	7	149489167	149489167	+	RNA	SNP	G	G	A			TCGA-DU-7299-01A-21D-2024-08	TCGA-DU-7299-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23a9a0b4-0a13-4e5b-941b-8174a1c8f301	ee7cefc3-bfbf-4b30-9509-c7b6084b33d4	g.chr7:149489167G>A	ENST00000378016.2	+	0	5412							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CTTGCCCTCAGGACGGCTGCC	0.627													32	49					0	0	0.069456	0	0	A	149489167	G	A	149489167	1	1	114	0	1	0	0	0	0	0	0	0	15245	991	35	2		2	SSPO	7	149489167	RNA	SNP	G	TCGA-DU-7299-01A-21D-2024-08	27837413	149489167	9649496	19	20704											
MFHAS1	9258	broad.mit.edu	37	8	8654899	8654899	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7299-01A-21D-2024-08	TCGA-DU-7299-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23a9a0b4-0a13-4e5b-941b-8174a1c8f301	ee7cefc3-bfbf-4b30-9509-c7b6084b33d4	g.chr8:8654899G>A	ENST00000276282.6	-	2	3687	c.3101C>T	c.(3100-3102)cCg>cTg	p.P1034L	MFHAS1_ENST00000520091.1_5'UTR	NM_004225.2	NP_004216.2	Q9Y4C4	MFHA1_HUMAN	malignant fibrous histiocytoma amplified sequence 1	1034										endometrium(1)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|stomach(1)	21		Hepatocellular(245;0.217)		COAD - Colon adenocarcinoma(149;0.124)		GATCACAGTCGGCGTGGGTGG	0.557													20	26					0	0	0.055883	0	0	A	8654899	G	A	8654899	3	1	114	1	0	0	0	0	1	0	0	0	9571	1116	39	1	65	1	MFHAS1	8	8654899	Missense_Mutation	SNP	G	TCGA-DU-7299-01A-21D-2024-08		8654899	137709123	20	20705											
CCDC6	8030	broad.mit.edu	37	10	61612347	61612349	+	In_Frame_Del	DEL	TTC	TTC	-			TCGA-DU-7299-01A-21D-2024-08	TCGA-DU-7299-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23a9a0b4-0a13-4e5b-941b-8174a1c8f301	ee7cefc3-bfbf-4b30-9509-c7b6084b33d4	g.chr10:61612347_61612349delTTC	ENST00000263102.6	-	2	646_648	c.415_417delGAA	c.(415-417)gaadel	p.E139del		NM_005436.4	NP_005427.2	Q16204	CCDC6_HUMAN	coiled-coil domain containing 6	139	5 X 29 AA tandem repeats.					cytoplasm|cytoskeleton	SH3 domain binding|structural constituent of cytoskeleton	p.E139delE(1)	CCDC6/RET(4)	breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(3)|stomach(1)	18				Kidney(211;0.0597)		TAGTGAGGAATTCTTCTTCTTTC	0.36			T	RET	NSCLC								31	65	---	---	---	---						-	61612349	TTC	-	61612347	7	5	114	1	0	1	0	1	0	0	0	0	2850	1490	52	0	1039	0	CCDC6	10	61612347	In_Frame_Del	DEL	TTC	TCGA-DU-7299-01A-21D-2024-08		61612347	73922400	21	20706											
RHOD	29984	broad.mit.edu	37	11	66834308	66834308	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-7299-01A-21D-2024-08	TCGA-DU-7299-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23a9a0b4-0a13-4e5b-941b-8174a1c8f301	ee7cefc3-bfbf-4b30-9509-c7b6084b33d4	g.chr11:66834308T>C	ENST00000308831.2	+	3	405	c.320T>C	c.(319-321)aTc>aCc	p.I107T	RHOD_ENST00000533360.1_Missense_Mutation_p.I107T|RHOD_ENST00000532559.1_Intron	NM_014578.3	NP_055393	O00212	RHOD_HUMAN	ras homolog family member D	107					regulation of small GTPase mediated signal transduction|Rho protein signal transduction	cytosol|plasma membrane	GTP binding|GTPase activity			lung(3)	3						TTTGACAACATCTTTAACCGG	0.607													49	90					0	0	0.048971	0	0	C	66834308	T	C	66834308	3	2	114	1	0	0	0	0	1	0	0	0	13387	1435	50	3	330	3	RHOD	11	66834308	Missense_Mutation	SNP	T	TCGA-DU-7299-01A-21D-2024-08		66834308	68172208	22	20707											
GPR162	27239	broad.mit.edu	37	12	6933476	6933476	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7299-01A-21D-2024-08	TCGA-DU-7299-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23a9a0b4-0a13-4e5b-941b-8174a1c8f301	ee7cefc3-bfbf-4b30-9509-c7b6084b33d4	g.chr12:6933476G>A	ENST00000311268.3	+	2	1199	c.412G>A	c.(412-414)Gtc>Atc	p.V138I	GPR162_ENST00000428545.2_Intron|GPR162_ENST00000541431.1_3'UTR|GPR162_ENST00000382315.3_Intron	NM_019858.1	NP_062832.1	Q16538	GP162_HUMAN	G protein-coupled receptor 162	138						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(1)	18						ACTGCATGCCGTCATGGGCAT	0.612													29	118					0	0	0.037714	0	0	A	6933476	G	A	6933476	3	1	114	1	0	0	0	0	1	0	0	0	6706	1145	40	1	433	1	GPR162	12	6933476	Missense_Mutation	SNP	G	TCGA-DU-7299-01A-21D-2024-08		6933476	126918419	23	20708											
PHB2	11331	broad.mit.edu	37	12	7077659	7077659	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7299-01A-21D-2024-08	TCGA-DU-7299-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23a9a0b4-0a13-4e5b-941b-8174a1c8f301	ee7cefc3-bfbf-4b30-9509-c7b6084b33d4	g.chr12:7077659C>T	ENST00000535923.1	-	4	673	c.392G>A	c.(391-393)cGa>cAa	p.R131Q	PHB2_ENST00000542912.1_Missense_Mutation_p.R131Q|PHB2_ENST00000440277.1_Missense_Mutation_p.R131Q|PHB2_ENST00000399433.2_Missense_Mutation_p.R131Q|PHB2_ENST00000546111.1_Intron|PHB2_ENST00000544134.1_5'UTR	NM_001144831.1	NP_001138303.1	Q99623	PHB2_HUMAN	prohibitin 2	131					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial inner membrane|nucleus	estrogen receptor binding|receptor activity			ovary(2)|pancreas(1)	3						CGGCAACACTCGTTCCTCGTA	0.567													14	38					0	0	0.105934	0	0	T	7077659	C	T	7077659	3	4	114	1	0	0	0	0	1	0	0	0	11863	884	31	1	531	1	PHB2	12	7077659	Missense_Mutation	SNP	C	TCGA-DU-7299-01A-21D-2024-08	144183	7077659	126774236	24	20709											
PCDH9	5101	broad.mit.edu	37	13	67801664	67801665	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-DU-7299-01A-21D-2024-08	TCGA-DU-7299-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23a9a0b4-0a13-4e5b-941b-8174a1c8f301	ee7cefc3-bfbf-4b30-9509-c7b6084b33d4	g.chr13:67801664_67801665delAA	ENST00000544246.1	-	2	1599_1600	c.908_909delTT	c.(907-909)tttfs	p.F303fs	PCDH9_ENST00000377861.3_Frame_Shift_Del_p.F303fs|PCDH9_ENST00000377865.2_Frame_Shift_Del_p.F303fs|PCDH9_ENST00000456367.1_Frame_Shift_Del_p.F303fs|PCDH9_ENST00000328454.5_Frame_Shift_Del_p.F303fs	NM_203487.2	NP_982354.1	Q9HC56	PCDH9_HUMAN	protocadherin 9	303	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		TATTTAAAGCAAAGAGTCTTTT	0.465													37	62	---	---	---	---						-	67801665	AA	-	67801664	7	5	114	1	0	1	0	1	0	0	0	0	11565	127	5	0	2820	0	PCDH9	13	67801664	Frame_Shift_Del	DEL	AA	TCGA-DU-7299-01A-21D-2024-08		67801664	47368214	25	20710											
SLC25A21	89874	broad.mit.edu	37	14	37198737	37198737	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7299-01A-21D-2024-08	TCGA-DU-7299-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23a9a0b4-0a13-4e5b-941b-8174a1c8f301	ee7cefc3-bfbf-4b30-9509-c7b6084b33d4	g.chr14:37198737C>T	ENST00000331299.5	-	5	820	c.305G>A	c.(304-306)gGa>gAa	p.G102E	SLC25A21_ENST00000555449.1_Missense_Mutation_p.G102E	NM_030631.3	NP_085134.1	Q9BQT8	ODC_HUMAN	solute carrier family 25 (mitochondrial oxoadipate carrier), member 21	102					lysine catabolic process	integral to membrane|mitochondrial inner membrane	alpha-ketoglutarate transmembrane transporter activity|binding			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|pancreas(1)|prostate(1)|skin(1)	9	Esophageal squamous(585;0.164)|Breast(36;0.179)|Hepatocellular(127;0.213)		Lung(8;2.16e-08)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.0112)|all cancers(34;0.0274)|LUSC - Lung squamous cell carcinoma(13;0.149)	GBM - Glioblastoma multiforme(112;0.00204)		TGACACATATCCCAGCAATTT	0.318													11	17					0	0	0.09319	0	0	T	37198737	C	T	37198737	3	4	114	1	0	0	0	0	1	0	0	0	14539	855	30	2	623	2	SLC25A21	14	37198737	Missense_Mutation	SNP	C	TCGA-DU-7299-01A-21D-2024-08		37198737	70150803	26	20711											
ZC3H7A	29066	broad.mit.edu	37	16	11864798	11864799	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-DU-7299-01A-21D-2024-08	TCGA-DU-7299-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23a9a0b4-0a13-4e5b-941b-8174a1c8f301	ee7cefc3-bfbf-4b30-9509-c7b6084b33d4	g.chr16:11864798_11864799delGA	ENST00000396516.2	-	9	1145_1146	c.948_949delTC	c.(946-951)tctcctfs	p.P317fs	ZC3H7A_ENST00000355758.4_Frame_Shift_Del_p.P317fs			Q8IWR0	Z3H7A_HUMAN	zinc finger CCCH-type containing 7A	317						nucleus	nucleic acid binding|zinc ion binding			breast(2)|endometrium(3)|kidney(5)|large_intestine(2)|liver(1)|lung(3)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(2)	25						GGCATGCTAGGAGAGACACTGG	0.485													29	80	---	---	---	---						-	11864799	GA	-	11864798	7	5	114	1	0	1	0	1	0	0	0	0	17631	1174	41	0	2022	0	ZC3H7A	16	11864798	Frame_Shift_Del	DEL	GA	TCGA-DU-7299-01A-21D-2024-08		11864798	78489955	27	20712											
ACSF3	197322	broad.mit.edu	37	16	89180844	89180844	+	Missense_Mutation	SNP	G	G	A	rs150487794	byFrequency	TCGA-DU-7299-01A-21D-2024-08	TCGA-DU-7299-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23a9a0b4-0a13-4e5b-941b-8174a1c8f301	ee7cefc3-bfbf-4b30-9509-c7b6084b33d4	g.chr16:89180844G>A	ENST00000317447.4	+	6	1452	c.1075G>A	c.(1075-1077)Gag>Aag	p.E359K	ACSF3_ENST00000378345.4_Missense_Mutation_p.E94K|ACSF3_ENST00000406948.3_Missense_Mutation_p.E359K|CTD-2555A7.3_ENST00000562782.1_RNA	NM_001127214.2|NM_001243279.1|NM_001284316.1|NM_174917.3	NP_001120686.1|NP_001230208.1|NP_001271245.1|NP_777577.2	Q4G176	ACSF3_HUMAN	acyl-CoA synthetase family member 3	359					fatty acid metabolic process	mitochondrion	acid-thiol ligase activity|ATP binding			central_nervous_system(1)|endometrium(1)|kidney(2)|lung(9)|prostate(1)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(80;0.0281)		TGGCATGACCGAGATCGGCAT	0.637													4	94					0	0	0.009096	0	0	A	89180844	G	A	89180844	3	1	114	1	0	0	0	0	1	0	0	0	176	1059	37	1	1089	1	ACSF3	16	89180844	Missense_Mutation	SNP	G	TCGA-DU-7299-01A-21D-2024-08	77316046	89180844	1173909	28	20713											
TP53	7157	broad.mit.edu	37	17	7577105	7577105	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7299-01A-21D-2024-08	TCGA-DU-7299-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23a9a0b4-0a13-4e5b-941b-8174a1c8f301	ee7cefc3-bfbf-4b30-9509-c7b6084b33d4	g.chr17:7577105G>A	ENST00000420246.2	-	8	965	c.833C>T	c.(832-834)cCt>cTt	p.P278L	TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.P278L|TP53_ENST00000359597.4_Missense_Mutation_p.P278L|TP53_ENST00000445888.2_Missense_Mutation_p.P278L|TP53_ENST00000269305.4_Missense_Mutation_p.P278L	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	278	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		P -> A (in sporadic cancers; somatic mutation; dbSNP:rs17849781).|P -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> H (in sporadic cancers; somatic mutation).|P -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation).|P -> T (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.P278L(61)|p.P278R(30)|p.P278H(13)|p.0?(8)|p.P278F(3)|p.?(2)|p.P278fs*67(2)|p.A276_R283delACPGRDRR(1)|p.C275fs*20(1)|p.A276fs*64(1)|p.L265_K305del41(1)|p.F270_D281del12(1)|p.V274_P278del(1)|p.S269fs*21(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(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)		GTCTCTCCCAGGACAGGCACA	0.552		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)			37	8					0	0	0.059317	0	0	A	7577105	G	A	7577105	3	1	114	1	0	0	0	0	1	0	0	0	16442	1000	35	2	453	2	TP53	17	7577105	Missense_Mutation	SNP	G	TCGA-DU-7299-01A-21D-2024-08		7577105	73618105	29	20714											
PIK3R5	23533	broad.mit.edu	37	17	8789796	8789796	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7299-01A-21D-2024-08	TCGA-DU-7299-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23a9a0b4-0a13-4e5b-941b-8174a1c8f301	ee7cefc3-bfbf-4b30-9509-c7b6084b33d4	g.chr17:8789796C>T	ENST00000447110.1	-	13	2156	c.2032G>A	c.(2032-2034)Gag>Aag	p.E678K	PIK3R5_ENST00000584803.1_Missense_Mutation_p.E677K|PIK3R5_ENST00000581552.1_Missense_Mutation_p.E678K	NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1	NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1	Q8WYR1	PI3R5_HUMAN	phosphoinositide-3-kinase, regulatory subunit 5	678	Interaction with G beta gamma proteins (By similarity).				platelet activation	cytosol|membrane|nucleus				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						GGCCTTACCTCGGTCTGATAG	0.667													7	52					0	0	0.02938	0	0	T	8789796	C	T	8789796	3	4	114	1	0	0	0	0	1	0	0	0	11970	893	31	1	638	1	PIK3R5	17	8789796	Missense_Mutation	SNP	C	TCGA-DU-7299-01A-21D-2024-08	1212691	8789796	72405414	30	20715											
NF1	4763	broad.mit.edu	37	17	29541467	29541468	+	Splice_Site	DEL	AG	AG	-			TCGA-DU-7299-01A-21D-2024-08	TCGA-DU-7299-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23a9a0b4-0a13-4e5b-941b-8174a1c8f301	ee7cefc3-bfbf-4b30-9509-c7b6084b33d4	g.chr17:29541467_29541468delAG	ENST00000358273.4	+	13	1775		c.e13-1		NF1_ENST00000356175.3_Splice_Site|NF1_ENST00000431387.4_Splice_Site	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1						actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(5)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TTTTGTTTTTAGAGTCTTACAT	0.292			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			11	21	---	---	---	---						-	29541468	AG	-	29541467	8	5	114	1	0	1	0	1	0	0	1	0	10403	434	15	0	1441	0	NF1	17	29541467	Splice_Site	DEL	AG	TCGA-DU-7299-01A-21D-2024-08	20751671	29541467	51653743	31	20716											
NF1	4763	broad.mit.edu	37	17	29576134	29576134	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DU-7299-01A-21D-2024-08	TCGA-DU-7299-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23a9a0b4-0a13-4e5b-941b-8174a1c8f301	ee7cefc3-bfbf-4b30-9509-c7b6084b33d4	g.chr17:29576134delC	ENST00000358273.4	+	30	4490	c.4107delC	c.(4105-4107)tacfs	p.Y1369fs	NF1_ENST00000356175.3_Frame_Shift_Del_p.Y1369fs	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1369	Ras-GAP.				actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		ACTGTTTATACCAGGTATGCT	0.403			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			22	93	---	---	---	---						-	29576134	C	-	29576134	7	5	114	1	0	1	0	1	0	0	0	0	10403	518	18	0	4286	0	NF1	17	29576134	Frame_Shift_Del	DEL	C	TCGA-DU-7299-01A-21D-2024-08	34667	29576134	51619076	32	20717											
CD300LG	146894	broad.mit.edu	37	17	41926022	41926022	+	Missense_Mutation	SNP	G	G	A	rs115182680	by1000genomes	TCGA-DU-7299-01A-21D-2024-08	TCGA-DU-7299-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23a9a0b4-0a13-4e5b-941b-8174a1c8f301	ee7cefc3-bfbf-4b30-9509-c7b6084b33d4	g.chr17:41926022G>A	ENST00000317310.4	+	2	181	c.140G>A	c.(139-141)cGg>cAg	p.R47Q	CD300LG_ENST00000586233.1_Missense_Mutation_p.R47Q|CD300LG_ENST00000588884.1_Missense_Mutation_p.R47Q|CD300LG_ENST00000293396.8_Missense_Mutation_p.R47Q|CD300LG_ENST00000539718.1_Missense_Mutation_p.R47Q|CD300LG_ENST00000377203.4_Missense_Mutation_p.R47Q	NM_145273.3	NP_660316.2	Q6UXG3	CLM9_HUMAN	CD300 molecule-like family member g	47	Ig-like V-type.					apical plasma membrane|basolateral plasma membrane|integral to membrane|multivesicular body membrane	receptor activity			central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(5)|skin(4)	19		Breast(137;0.0199)		BRCA - Breast invasive adenocarcinoma(366;0.115)		AGGGACCACCGGAAGTACTGG	0.577													5	78					0	0	0.014758	0	0	A	41926022	G	A	41926022	3	1	114	1	0	0	0	0	1	0	0	0	3024	1116	39	1	146	1	CD300LG	17	41926022	Missense_Mutation	SNP	G	TCGA-DU-7299-01A-21D-2024-08	12349888	41926022	39269188	33	20718											
MED13	9969	broad.mit.edu	37	17	60140577	60140579	+	In_Frame_Del	DEL	TCT	TCT	-			TCGA-DU-7299-01A-21D-2024-08	TCGA-DU-7299-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23a9a0b4-0a13-4e5b-941b-8174a1c8f301	ee7cefc3-bfbf-4b30-9509-c7b6084b33d4	g.chr17:60140577_60140579delTCT	ENST00000397786.2	-	2	226_228	c.150_152delAGA	c.(148-153)gaagac>gac	p.E50del		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	50					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						CAAAATGGGGTCTTCTTCTGTCA	0.443													12	140	---	---	---	---						-	60140579	TCT	-	60140577	7	5	114	1	0	1	0	1	0	0	0	0	9480	1667	58	0	6488	0	MED13	17	60140577	In_Frame_Del	DEL	TCT	TCGA-DU-7299-01A-21D-2024-08	18214555	60140577	21054633	34	20719											
DNAH17	8632	broad.mit.edu	37	17	76510921	76510921	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7299-01A-21D-2024-08	TCGA-DU-7299-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23a9a0b4-0a13-4e5b-941b-8174a1c8f301	ee7cefc3-bfbf-4b30-9509-c7b6084b33d4	g.chr17:76510921C>T	ENST00000389840.5	-	26	4160	c.4036G>A	c.(4036-4038)Gtg>Atg	p.V1346M	DNAH17_ENST00000585328.1_Missense_Mutation_p.V1347M					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			AGCTCGCTCACGGCACGCAGG	0.612													27	41					0	0	0.030593	0	0	T	76510921	C	T	76510921	3	4	114	1	0	0	0	0	1	0	0	0	4629	536	19	1	9564	1	DNAH17	17	76510921	Missense_Mutation	SNP	C	TCGA-DU-7299-01A-21D-2024-08	16370344	76510921	4684289	35	20720											
GLTSCR1	29998	broad.mit.edu	37	19	48198169	48198171	+	In_Frame_Del	DEL	ATC	ATC	-			TCGA-DU-7299-01A-21D-2024-08	TCGA-DU-7299-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23a9a0b4-0a13-4e5b-941b-8174a1c8f301	ee7cefc3-bfbf-4b30-9509-c7b6084b33d4	g.chr19:48198169_48198171delATC	ENST00000396720.3	+	9	3102_3104	c.2908_2910delATC	c.(2908-2910)atcdel	p.I971del	CTD-2571L23.8_ENST00000599924.1_lincRNA	NM_015711.3	NP_056526.3	Q9NZM4	GSCR1_HUMAN	glioma tumor suppressor candidate region gene 1	971							protein binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|pancreas(3)|prostate(4)|skin(2)	20		all_cancers(25;1.8e-07)|all_lung(116;5.73e-06)|Lung NSC(112;9.69e-06)|all_epithelial(76;2.42e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		all cancers(93;0.000358)|OV - Ovarian serous cystadenocarcinoma(262;0.000576)|Epithelial(262;0.0212)|GBM - Glioblastoma multiforme(486;0.0355)		GCCGTCCGGAATCATCCTCCAGA	0.68													8	39	---	---	---	---						-	48198171	ATC	-	48198169	7	5	114	1	0	1	0	1	0	0	0	0	6516	101	4	0	2934	0	GLTSCR1	19	48198169	In_Frame_Del	DEL	ATC	TCGA-DU-7299-01A-21D-2024-08		48198169	10930814	36	20721											
MYT1	4661	broad.mit.edu	37	20	62839582	62839582	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-7299-01A-21D-2024-08	TCGA-DU-7299-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23a9a0b4-0a13-4e5b-941b-8174a1c8f301	ee7cefc3-bfbf-4b30-9509-c7b6084b33d4	g.chr20:62839582G>T	ENST00000536311.1	+	7	1397	c.1033G>T	c.(1033-1035)Gag>Tag	p.E345*	MYT1_ENST00000360149.4_Intron|MYT1_ENST00000328439.1_Nonsense_Mutation_p.E345*			Q01538	MYT1_HUMAN	myelin transcription factor 1	345					cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					TGTTATTGTGGAGGTCCGCTC	0.577													53	98					1.19258e-52	1.38231e-52	0.048971	1	0	T	62839582	G	T	62839582	4	4	114	1	0	0	0	0	0	1	0	0	10154	1175	41	5	1051	5	MYT1	20	62839582	Nonsense_Mutation	SNP	G	TCGA-DU-7299-01A-21D-2024-08		62839582	185938	37	20722											
SMARCB1	6598	broad.mit.edu	37	22	24175836	24175837	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-DU-7299-01A-21D-2024-08	TCGA-DU-7299-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23a9a0b4-0a13-4e5b-941b-8174a1c8f301	ee7cefc3-bfbf-4b30-9509-c7b6084b33d4	g.chr22:24175836_24175837delCT	ENST00000344921.6	+	8	1298_1299	c.1091_1092delCT	c.(1090-1092)actfs	p.T364fs	SMARCB1_ENST00000407422.3_Frame_Shift_Del_p.T346fs|SMARCB1_ENST00000407082.3_Frame_Shift_Del_p.T309fs|SMARCB1_ENST00000263121.7_Frame_Shift_Del_p.T355fs			Q12824	SNF5_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1	355					cell cycle|chromatin remodeling|DNA integration|interspecies interaction between organisms|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|retroviral genome replication|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleolus|nucleoplasm|SWI/SNF complex	p53 binding	p.?(2)|p.L266_*386del(1)		bone(4)|central_nervous_system(198)|endometrium(4)|haematopoietic_and_lymphoid_tissue(25)|kidney(3)|large_intestine(5)|liver(2)|lung(5)|meninges(5)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|soft_tissue(194)	458		Medulloblastoma(6;2.2e-09)|all_neural(6;2.73e-05)				CTGCTGGAGACTCTGACAGACG	0.634			"D, N, F, S"		malignant rhabdoid	malignant rhabdoid							13	131	---	---	---	---						-	24175837	CT	-	24175836	7	5	114	1	0	1	0	1	0	0	0	0	14828	565	20	0	1094	0	SMARCB1	22	24175836	Frame_Shift_Del	DEL	CT	TCGA-DU-7299-01A-21D-2024-08		24175836	27128730	38	20723											
MGAT3	4248	broad.mit.edu	37	22	39883576	39883576	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-7299-01A-21D-2024-08	TCGA-DU-7299-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23a9a0b4-0a13-4e5b-941b-8174a1c8f301	ee7cefc3-bfbf-4b30-9509-c7b6084b33d4	g.chr22:39883576A>G	ENST00000341184.6	+	2	439	c.224A>G	c.(223-225)tAc>tGc	p.Y75C		NM_001098270.1|NM_002409.4	NP_001091740.1|NP_002400.3	Q09327	MGAT3_HUMAN	mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase	75	Pro-rich.				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity			endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|prostate(1)|skin(1)	24	Melanoma(58;0.04)					ACCCCACTCTACTCCCACTCG	0.672													23	75					0	0	0.062417	0	0	G	39883576	A	G	39883576	3	3	114	1	0	0	0	0	1	0	0	0	9594	391	14	3	226	3	MGAT3	22	39883576	Missense_Mutation	SNP	A	TCGA-DU-7299-01A-21D-2024-08	15707740	39883576	11420990	39	20724											
SLC35A2	7355	broad.mit.edu	37	X	48762551	48762552	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-DU-7299-01A-21D-2024-08	TCGA-DU-7299-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23a9a0b4-0a13-4e5b-941b-8174a1c8f301	ee7cefc3-bfbf-4b30-9509-c7b6084b33d4	g.chrX:48762551_48762552delGA	ENST00000376521.1	-	4	955_956	c.634_635delTC	c.(634-636)tccfs	p.S213fs	SLC35A2_ENST00000445167.2_Intron|SLC35A2_ENST00000452555.2_Frame_Shift_Del_p.S241fs|SLC35A2_ENST00000413561.2_Frame_Shift_Del_p.S152fs|SLC35A2_ENST00000376529.3_Intron|SLC35A2_ENST00000376515.3_Intron|SLC35A2_ENST00000247138.5_Frame_Shift_Del_p.S213fs	NM_001042498.2	NP_001035963.1	P78381	S35A2_HUMAN	solute carrier family 35 (UDP-galactose transporter), member A2	213					galactose metabolic process	Golgi membrane|integral to membrane|nucleus	sugar:hydrogen symporter activity|UDP-galactose transmembrane transporter activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(2)	15						GAAGCCGGAGGAGAGACAGGAG	0.649													5	5	---	---	---	---						-	48762552	GA	-	48762551	7	5	114	1	0	1	0	1	0	0	0	0	14626	1174	41	0	719	0	SLC35A2	23	48762551	Frame_Shift_Del	DEL	GA	TCGA-DU-7299-01A-21D-2024-08		48762551	106508009	40	20725											
NSDHL	50814	broad.mit.edu	37	X	152034375	152034375	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7299-01A-21D-2024-08	TCGA-DU-7299-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23a9a0b4-0a13-4e5b-941b-8174a1c8f301	ee7cefc3-bfbf-4b30-9509-c7b6084b33d4	g.chrX:152034375G>A	ENST00000370274.3	+	6	750	c.556G>A	c.(556-558)Gcc>Acc	p.A186T	NSDHL_ENST00000440023.1_Missense_Mutation_p.A186T	NM_015922.2	NP_057006.1	Q15738	NSDHL_HUMAN	NAD(P) dependent steroid dehydrogenase-like	186					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|C-3 sterol dehydrogenase (C-4 sterol decarboxylase) activity|sterol-4-alpha-carboxylate 3-dehydrogenase (decarboxylating) activity			NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(5)	15	Acute lymphoblastic leukemia(192;6.56e-05)				NADH(DB00157)	AGTTCTGGGCGCCAACGATCC	0.582													4	89					0	0	0.009096	0	0	A	152034375	G	A	152034375	3	1	114	1	0	0	0	0	1	0	0	0	10718	1087	38	1	574	1	NSDHL	23	152034375	Missense_Mutation	SNP	G	TCGA-DU-7299-01A-21D-2024-08	103271824	152034375	3236185	41	20726											
RLF	6018	broad.mit.edu	37	1	40701977	40701978	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chr1:40701977_40701978delAA	ENST00000372771.4	+	8	1630_1631	c.1603_1604delAA	c.(1603-1605)aaafs	p.K535fs		NM_012421.3	NP_036553.2	Q13129	RLF_HUMAN	rearranged L-myc fusion	535					chromosome organization|DNA integration|DNA mediated transformation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2)	68	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)			GCATAAGGAGAAAAGAGACAAA	0.356													29	31	---	---	---	---						-	40701978	AA	-	40701977	7	5	115	1	0	1	0	1	0	0	0	0	13441	247	9	0	1633	0	RLF	1	40701977	Frame_Shift_Del	DEL	AA	TCGA-DU-7300-01A-21D-2086-08		40701977	208548644	1	20727											
HIVEP3	59269	broad.mit.edu	37	1	42048876	42048876	+	Silent	SNP	G	G	A			TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chr1:42048876G>A	ENST00000372584.1	-	3	2607	c.1593C>T	c.(1591-1593)acC>acT	p.T531T	HIVEP3_ENST00000429157.2_Silent_p.T531T|HIVEP3_ENST00000247584.5_Silent_p.T531T|HIVEP3_ENST00000372583.1_Silent_p.T531T	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	531	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)				CAGGGGGGGCGGTACTGGGCG	0.607													3	63					0	0	1	0	0	A	42048876	G	A	42048876	2	1	115	1	0	0	0	0	0	0	0	1	7229	1103	39	1		1	HIVEP3	1	42048876	Silent	SNP	G	TCGA-DU-7300-01A-21D-2086-08	1346899	42048876	207201745	2	20728											
FUBP1	8880	broad.mit.edu	37	1	78433848	78433851	+	Splice_Site	DEL	CAGT	CAGT	-			TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chr1:78433848_78433851delCAGT	ENST00000370767.1	-	3	335_338	c.248_251delACTG	c.(247-252)gactgt>gt	p.DC83fs	FUBP1_ENST00000370768.2_Splice_Site_p.DC83fs|FUBP1_ENST00000436586.2_Splice_Site_p.DC104fs			Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1	83					transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding	p.?(1)		central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						GGAATACTTACAGTCATTTTGAGG	0.319			"F, N"		oligodendroglioma								8	14	---	---	---	---						-	78433851	CAGT	-	78433848	8	5	115	1	0	1	0	1	0	0	1	0	6127	492	17	0	1755	0	FUBP1	1	78433848	Splice_Site	DEL	CAGT	TCGA-DU-7300-01A-21D-2086-08	36384972	78433848	170816773	3	20729											
OTOF	9381	broad.mit.edu	37	2	26686908	26686908	+	Missense_Mutation	SNP	C	C	T	rs143889717		TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chr2:26686908C>T	ENST00000272371.2	-	40	5153	c.5027G>A	c.(5026-5028)cGc>cAc	p.R1676H	OTOF_ENST00000403946.3_Missense_Mutation_p.R1676H|OTOF_ENST00000338581.6_Missense_Mutation_p.R909H|OTOF_ENST00000339598.3_Missense_Mutation_p.R909H|OTOF_ENST00000402415.3_Missense_Mutation_p.R986H	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	1676					cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCAGCCTGCGCGGGGGATGTC	0.667													63	148					0	0	1	0	0	T	26686908	C	T	26686908	3	4	115	1	0	0	0	0	1	0	0	0	11350	768	27	1	1179	1	OTOF	2	26686908	Missense_Mutation	SNP	C	TCGA-DU-7300-01A-21D-2086-08		26686908	216512465	4	20730											
ALMS1	7840	broad.mit.edu	37	2	73746974	73746976	+	In_Frame_Del	DEL	AAC	AAC	-			TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chr2:73746974_73746976delAAC	ENST00000264448.6	+	11	9720_9722	c.9609_9611delAAC	c.(9607-9612)ataaca>ata	p.T3205del	ALMS1_ENST00000409009.1_In_Frame_Del_p.T3163del	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	3205					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						TCACTCAGATAACAACAGAAAGT	0.384													12	42	---	---	---	---						-	73746976	AAC	-	73746974	7	5	115	1	0	1	0	1	0	0	0	0	531	352	13	0	9651	0	ALMS1	2	73746974	In_Frame_Del	DEL	AAC	TCGA-DU-7300-01A-21D-2086-08	47060066	73746974	169452399	5	20731											
TMEM131	23505	broad.mit.edu	37	2	98504555	98504555	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chr2:98504555G>A	ENST00000186436.5	-	4	547	c.319C>T	c.(319-321)Ccc>Tcc	p.P107S	TMEM131_ENST00000425805.2_Missense_Mutation_p.P58S	NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131	107						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						AATCGTATGGGCCTGCAATTC	0.338													8	24					0	0	1	0	0	A	98504555	G	A	98504555	3	1	115	1	0	0	0	0	1	0	0	0	16104	1203	42	2	5484	2	TMEM131	2	98504555	Missense_Mutation	SNP	G	TCGA-DU-7300-01A-21D-2086-08	24757581	98504555	144694818	6	20732											
EPC2	26122	broad.mit.edu	37	2	149539217	149539218	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chr2:149539217_149539218delAG	ENST00000258484.6	+	11	1759_1760	c.1725_1726delAG	c.(1723-1728)acagggfs	p.G577fs		NM_015630.3	NP_056445.3	Q52LR7	EPC2_HUMAN	enhancer of polycomb homolog 2 (Drosophila)	577					chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.0516)		TACCAGTAACAGGGGGTATCAC	0.376													16	32	---	---	---	---						-	149539218	AG	-	149539217	7	5	115	1	0	1	0	1	0	0	0	0	5189	175	7	0	1767	0	EPC2	2	149539217	Frame_Shift_Del	DEL	AG	TCGA-DU-7300-01A-21D-2086-08	51034662	149539217	93660156	7	20733											
RIF1	55183	broad.mit.edu	37	2	152319418	152319418	+	Silent	SNP	C	C	T			TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chr2:152319418C>T	ENST00000243326.5	+	29	3867	c.3384C>T	c.(3382-3384)gaC>gaT	p.D1128D	RIF1_ENST00000444746.2_Silent_p.D1128D|RIF1_ENST00000430328.2_Silent_p.D1128D|RIF1_ENST00000428287.2_Silent_p.D1128D|RIF1_ENST00000453091.2_Silent_p.D1128D			Q5UIP0	RIF1_HUMAN	RAP1 interacting factor homolog (yeast)						cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		TGGACAGTGACATTGTCATTC	0.393													16	34					0	0	1	0	0	T	152319418	C	T	152319418	2	4	115	1	0	0	0	0	0	0	0	1	13409	477	17	2		2	RIF1	2	152319418	Silent	SNP	C	TCGA-DU-7300-01A-21D-2086-08	2780201	152319418	90879955	8	20734											
GALNT13	114805	broad.mit.edu	37	2	155306962	155306962	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chr2:155306962G>C	ENST00000392825.3	+	13	2137	c.1570G>C	c.(1570-1572)Gat>Cat	p.D524H	GALNT13_ENST00000409237.1_3'UTR|AC009227.2_ENST00000434635.1_RNA	NM_052917.2	NP_443149.2	Q8IUC8	GLT13_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)	524	Ricin B-type lectin.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						CCAATGTCTCGATGAACCTTC	0.438													30	60					0	0	1	0	0	C	155306962	G	C	155306962	3	2	115	1	0	0	0	0	1	0	0	0	6251	1058	37	5	1612	5	GALNT13	2	155306962	Missense_Mutation	SNP	G	TCGA-DU-7300-01A-21D-2086-08	2987544	155306962	87892411	9	20735											
SCN2A	6326	broad.mit.edu	37	2	166170182	166170182	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chr2:166170182G>A	ENST00000357398.3	+	9	1377	c.1087G>A	c.(1087-1089)Ggc>Agc	p.G363S	SCN2A_ENST00000375427.2_Missense_Mutation_p.G363S|SCN2A_ENST00000283256.6_Missense_Mutation_p.G363S|SCN2A_ENST00000375437.2_Missense_Mutation_p.G363S			Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	363					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	CCCCAACTATGGCTACACGAG	0.433													29	60					0	0	1	0	0	A	166170182	G	A	166170182	3	1	115	1	0	0	0	0	1	0	0	0	13970	1348	47	2	1213	2	SCN2A	2	166170182	Missense_Mutation	SNP	G	TCGA-DU-7300-01A-21D-2086-08	10863220	166170182	77029191	10	20736											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	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	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								17	68					0	0	1	0	0	T	209113112	C	T	209113112	3	4	115	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-DU-7300-01A-21D-2086-08	42942930	209113112	34086261	11	20737											
ANKRD17	26057	broad.mit.edu	37	4	74012998	74012998	+	Silent	SNP	T	T	C			TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chr4:74012998T>C	ENST00000358602.4	-	9	1835	c.1719A>G	c.(1717-1719)caA>caG	p.Q573Q	ANKRD17_ENST00000509867.2_Silent_p.Q460Q|ANKRD17_ENST00000330838.6_Silent_p.Q573Q|ANKRD17_ENST00000514252.1_Intron	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	573					interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			AATGACCCTCTTGAGCAGCTT	0.398													43	75					0	0	1	0	0	C	74012998	T	C	74012998	2	2	115	1	0	0	0	0	0	0	0	1	642	1606	56	3		3	ANKRD17	4	74012998	Silent	SNP	T	TCGA-DU-7300-01A-21D-2086-08		74012998	117141278	12	20738											
ADH1C	126	broad.mit.edu	37	4	100263953	100263953	+	RNA	SNP	A	A	G	rs78836241		TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chr4:100263953A>G	ENST00000515683.1	-	0	1178					NM_000669.3	NP_000660.1	P00326	ADH1G_HUMAN	alcohol dehydrogenase 1C (class I), gamma polypeptide						ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|zinc ion binding								OV - Ovarian serous cystadenocarcinoma(123;1.08e-07)	Fomepizole(DB01213)|NADH(DB00157)	GGATCATACCATGGTGTCAAG	0.413													81	176					0	0	1	0	0	G	100263953	A	G	100263953	1	3	115	0	1	0	0	0	0	0	0	0	308	231	8	3		3	ADH1C	4	100263953	RNA	SNP	A	TCGA-DU-7300-01A-21D-2086-08	26250955	100263953	90890323	13	20739											
TBCK	93627	broad.mit.edu	37	4	107229997	107229997	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chr4:107229997G>A	ENST00000273980.5	-	3	568	c.121C>T	c.(121-123)Cgc>Tgc	p.R41C	TBCK_ENST00000394706.3_Missense_Mutation_p.R41C|TBCK_ENST00000361687.4_Missense_Mutation_p.R41C|TBCK_ENST00000432496.2_Missense_Mutation_p.R41C|TBCK_ENST00000394708.2_Missense_Mutation_p.R41C			Q8TEA7	TBCK_HUMAN	TBC1 domain containing kinase		Protein kinase.					intracellular	Rab GTPase activator activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	25						ATTTGAAAGCGCCCTAAAATT	0.413													24	63					0	0	1	0	0	A	107229997	G	A	107229997	3	1	115	1	0	0	0	0	1	0	0	0	15696	1087	38	1	2660	1	TBCK	4	107229997	Missense_Mutation	SNP	G	TCGA-DU-7300-01A-21D-2086-08	6966044	107229997	83924279	14	20740											
SKIV2L2	23517	broad.mit.edu	37	5	54706365	54706367	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chr5:54706365_54706367delCTT	ENST00000230640.5	+	23	2913_2915	c.2659_2661delCTT	c.(2659-2661)cttdel	p.L888del	SKIV2L2_ENST00000545714.1_In_Frame_Del_p.L787del	NM_015360.4	NP_056175.3	P42285	SK2L2_HUMAN	superkiller viralicidic activity 2-like 2 (S. cerevisiae)	888					maturation of 5.8S rRNA	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			NS(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194)				TGATGAGCTCCTTCTAACTGAGA	0.35													31	105	---	---	---	---						-	54706367	CTT	-	54706365	7	5	115	1	0	1	0	1	0	0	0	0	14415	681	24	0	2749	0	SKIV2L2	5	54706365	In_Frame_Del	DEL	CTT	TCGA-DU-7300-01A-21D-2086-08		54706365	126208895	15	20741											
IPO11	51194	broad.mit.edu	37	5	61779947	61779949	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chr5:61779947_61779949delGAA	ENST00000325324.6	+	11	1301_1303	c.1132_1134delGAA	c.(1132-1134)gaadel	p.E380del	KIF2A_ENST00000509663.2_Intron|IPO11_ENST00000409296.3_In_Frame_Del_p.E420del	NM_016338.4	NP_057422.3	Q9UI26	IPO11_HUMAN	importin 11	380						cytoplasm|nucleus	protein binding			endometrium(2)|kidney(3)|large_intestine(5)|lung(14)|skin(4)|stomach(2)	30		Lung NSC(810;8.99e-06)|Prostate(74;0.0235)|Ovarian(174;0.0511)|Breast(144;0.077)		Lung(70;0.0613)		CCTATTAACTGAAGAAGAACTGA	0.33													18	43	---	---	---	---						-	61779949	GAA	-	61779947	7	5	115	1	0	1	0	1	0	0	0	0	7837	1291	45	0	1294	0	IPO11	5	61779947	In_Frame_Del	DEL	GAA	TCGA-DU-7300-01A-21D-2086-08	7073582	61779947	119135313	16	20742											
PIK3R1	5295	broad.mit.edu	37	5	67589550	67589552	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chr5:67589550_67589552delAAG	ENST00000521381.1	+	11	1929_1931	c.1313_1315delAAG	c.(1312-1317)aaagaa>aaa	p.E439del	PIK3R1_ENST00000336483.5_In_Frame_Del_p.E169del|PIK3R1_ENST00000396611.1_In_Frame_Del_p.E439del|PIK3R1_ENST00000274335.5_In_Frame_Del_p.E439del|PIK3R1_ENST00000521657.1_In_Frame_Del_p.E439del|PIK3R1_ENST00000320694.8_In_Frame_Del_p.E139del|PIK3R1_ENST00000523872.1_In_Frame_Del_p.E76del	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	439					epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	CAAGTTGTCAAAGAAGATAATAT	0.266			"Mis, F, O"		"gliobastoma, ovarian, colorectal"					TCGA GBM(4;<1E-08)			10	26	---	---	---	---						-	67589552	AAG	-	67589550	7	5	115	1	0	1	0	1	0	0	0	0	11966	14	1	0	1481	0	PIK3R1	5	67589550	In_Frame_Del	DEL	AAG	TCGA-DU-7300-01A-21D-2086-08	5809603	67589550	113325710	17	20743											
PIK3R1	5295	broad.mit.edu	37	5	67589623	67589624	+	Frame_Shift_Del	DEL	AT	AT	-			TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chr5:67589623_67589624delAT	ENST00000521381.1	+	11	2002_2003	c.1386_1387delAT	c.(1384-1389)gaatatfs	p.Y463fs	PIK3R1_ENST00000336483.5_Frame_Shift_Del_p.Y193fs|PIK3R1_ENST00000396611.1_Frame_Shift_Del_p.Y463fs|PIK3R1_ENST00000274335.5_Frame_Shift_Del_p.Y463fs|PIK3R1_ENST00000521657.1_Frame_Shift_Del_p.Y463fs|PIK3R1_ENST00000320694.8_Frame_Shift_Del_p.Y163fs|PIK3R1_ENST00000523872.1_Frame_Shift_Del_p.Y100fs	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	463					epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.D464fs*2(1)|p.0?(1)|p.?(1)|p.Y463fs*1(1)|p.E462_R465delEYDR(1)|p.Y463_L466del(1)|p.T454_D464del(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	AAAGTCGAGAATATGATAGATT	0.287			"Mis, F, O"		"gliobastoma, ovarian, colorectal"					TCGA GBM(4;<1E-08)			17	37	---	---	---	---						-	67589624	AT	-	67589623	7	5	115	1	0	1	0	1	0	0	0	0	11966	98	4	0	1554	0	PIK3R1	5	67589623	Frame_Shift_Del	DEL	AT	TCGA-DU-7300-01A-21D-2086-08	73	67589623	113325637	18	20744											
HIST1H4E	8367	broad.mit.edu	37	6	26204972	26204972	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chr6:26204972G>C	ENST00000360441.4	+	1	115	c.100G>C	c.(100-102)Gcc>Ccc	p.A34P		NM_003545.3	NP_003536.1	P62805	H4_HUMAN	histone cluster 1, H4e	34					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	18		all_hematologic(11;0.196)				TACCAAGCCTGCCATCCGGCG	0.577													4	100					0	0	1	0	0	C	26204972	G	C	26204972	3	2	115	1	0	0	0	0	1	0	0	0	7210	1319	46	5	102	5	HIST1H4E	6	26204972	Missense_Mutation	SNP	G	TCGA-DU-7300-01A-21D-2086-08		26204972	144910095	19	20745											
FRK	2444	broad.mit.edu	37	6	116381344	116381344	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chr6:116381344C>T	ENST00000606080.1	-	1	577	c.131G>A	c.(130-132)gGc>gAc	p.G44D		NM_002031.2	NP_002022.1	P42685	FRK_HUMAN	fyn-related kinase	44	SH3.				negative regulation of cell proliferation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|skin(1)|urinary_tract(1)	27		all_cancers(87;0.00559)|all_epithelial(87;0.00738)|Colorectal(196;0.0465)		all cancers(137;0.0128)|OV - Ovarian serous cystadenocarcinoma(136;0.0209)|GBM - Glioblastoma multiforme(226;0.0459)|Epithelial(106;0.0625)		AAAGTAGTGGCCATGCCTCTG	0.517													6	157					0	0	1	0	0	T	116381344	C	T	116381344	3	4	115	1	0	0	0	0	1	0	0	0	6083	739	26	2	1418	2	FRK	6	116381344	Missense_Mutation	SNP	C	TCGA-DU-7300-01A-21D-2086-08	90176372	116381344	54733723	20	20746											
TCP1	6950	broad.mit.edu	37	6	160201521	160201523	+	In_Frame_Del	DEL	CTT	CTT	-	rs147802495		TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chr6:160201521_160201523delCTT	ENST00000321394.7	-	9	1329_1331	c.1049_1051delAAG	c.(1048-1053)gaagtg>gtg	p.E350del	TCP1_ENST00000420894.2_In_Frame_Del_p.E350del|TCP1_ENST00000544255.1_In_Frame_Del_p.E126del|TCP1_ENST00000392168.2_In_Frame_Del_p.E195del	NM_030752.2	NP_110379.2	P17987	TCPA_HUMAN	t-complex 1	350					'de novo' posttranslational protein folding|tubulin complex assembly	cell junction|Golgi apparatus	ATP binding|unfolded protein binding			breast(1)|endometrium(4)|large_intestine(3)|lung(2)	10		Breast(66;1.53e-05)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(65;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)		TCCTGTACCACTTCTTCTGCCTG	0.365													20	121	---	---	---	---						-	160201523	CTT	-	160201521	7	5	115	1	0	1	0	1	0	0	0	0	15769	565	20	0	635	0	TCP1	6	160201521	In_Frame_Del	DEL	CTT	TCGA-DU-7300-01A-21D-2086-08	43820177	160201521	10913546	21	20747											
KIF25	3834	broad.mit.edu	37	6	168440828	168440828	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chr6:168440828C>T	ENST00000443060.2	+	7	969	c.578C>T	c.(577-579)gCg>gTg	p.A193V	KIF25_ENST00000351261.3_Missense_Mutation_p.A193V|KIF25_ENST00000354419.2_Missense_Mutation_p.A193V			Q9UIL4	KIF25_HUMAN	kinesin family member 25	193	Kinesin-motor.				microtubule-based movement|mitotic sister chromatid segregation	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity			NS(2)|breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		Breast(66;1.07e-05)|Ovarian(120;0.0728)		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)		CTGGTGCACGCGGATTCCTCC	0.572													16	48					0	0	1	0	0	T	168440828	C	T	168440828	3	4	115	1	0	0	0	0	1	0	0	0	8335	768	27	1	596	1	KIF25	6	168440828	Missense_Mutation	SNP	C	TCGA-DU-7300-01A-21D-2086-08	8239307	168440828	2674239	22	20748											
AEBP1	165	broad.mit.edu	37	7	44152194	44152196	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chr7:44152194_44152196delAGA	ENST00000223357.3	+	18	2560_2562	c.2255_2257delAGA	c.(2254-2259)gagaag>gag	p.K753del	AEBP1_ENST00000450684.2_In_Frame_Del_p.K328del	NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN	AE binding protein 1	753	Interaction with PTEN (By similarity).				cell adhesion|muscle organ development|proteolysis|skeletal system development	cytoplasm|extracellular space|nucleus	DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						GCCTGGATGGAGAAGAACCCCTT	0.64													11	133	---	---	---	---						-	44152196	AGA	-	44152194	7	5	115	1	0	1	0	1	0	0	0	0	348	304	11	0	2325	0	AEBP1	7	44152194	In_Frame_Del	DEL	AGA	TCGA-DU-7300-01A-21D-2086-08		44152194	114986469	23	20749											
PKD1L1	168507	broad.mit.edu	37	7	47840379	47840379	+	Silent	SNP	G	G	A	rs138774842		TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chr7:47840379G>A	ENST00000289672.2	-	54	8111	c.8061C>T	c.(8059-8061)ccC>ccT	p.P2687P	C7orf69_ENST00000258776.4_Intron|C7orf69_ENST00000418326.2_Intron	NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	2687					cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						ACAGCAGCCCGGGGAAGGCGT	0.567													42	107					0	0	1	0	0	A	47840379	G	A	47840379	2	1	115	1	0	0	0	0	0	0	0	1	12012	1103	39	1		1	PKD1L1	7	47840379	Silent	SNP	G	TCGA-DU-7300-01A-21D-2086-08	3688185	47840379	111298284	24	20750											
KIAA1549	57670	broad.mit.edu	37	7	138603027	138603027	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chr7:138603027C>T	ENST00000440172.1	-	2	1393	c.1345G>A	c.(1345-1347)Gag>Aag	p.E449K	KIAA1549_ENST00000242365.4_Missense_Mutation_p.E399K|KIAA1549_ENST00000422774.1_Missense_Mutation_p.E449K	NM_001164665.1|NM_020910.2	NP_001158137.1|NP_065961.2	Q9HCM3	K1549_HUMAN	KIAA1549	449						integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						CACAGAGTCTCGGCACCATCC	0.517			O	BRAF	pilocytic astrocytoma								10	102					0	0	1	0	0	T	138603027	C	T	138603027	3	4	115	1	0	0	0	0	1	0	0	0	8286	893	31	1	4583	1	KIAA1549	7	138603027	Missense_Mutation	SNP	C	TCGA-DU-7300-01A-21D-2086-08	90762648	138603027	20535636	25	20751											
CHRNA2	1135	broad.mit.edu	37	8	27321507	27321507	+	Silent	SNP	T	T	G			TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chr8:27321507T>G	ENST00000407991.1	-	6	1061	c.453A>C	c.(451-453)gcA>gcC	p.A151A	CHRNA2_ENST00000240132.2_Silent_p.A136A|CHRNA2_ENST00000520933.2_Silent_p.A151A	NM_000742.3	NP_000733.2	Q15822	ACHA2_HUMAN	cholinergic receptor, nicotinic, alpha 2 (neuronal)	151						cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0208)|Epithelial(17;2.77e-10)|Colorectal(74;0.136)	Atracurium(DB00732)|Biperiden(DB00810)|Carbachol(DB00411)|Cisatracurium Besylate(DB00565)|Decamethonium(DB01245)|Dextromethorphan(DB00514)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Gallamine Triethiodide(DB00483)|Levallorphan(DB00504)|Mecamylamine(DB00657)|Metocurine Iodide(DB00416)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicotine(DB00184)|Pancuronium(DB01337)|Pipecuronium(DB01338)|Rocuronium(DB00728)|Tubocurarine(DB01199)	ACTCCCCATCTGCACTGAGAA	0.622													7	30					0	0	1	0	0	G	27321507	T	G	27321507	2	3	115	1	0	0	0	0	0	0	0	1	3405	1567	55	5		5	CHRNA2	8	27321507	Silent	SNP	T	TCGA-DU-7300-01A-21D-2086-08		27321507	119042515	26	20752											
PKHD1L1	93035	broad.mit.edu	37	8	110487479	110487479	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chr8:110487479C>T	ENST00000378402.5	+	51	8842	c.8738C>T	c.(8737-8739)tCg>tTg	p.S2913L		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2913					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TCATATACATCGACATTCTAT	0.338										HNSCC(38;0.096)			8	13					0	0	1	0	0	T	110487479	C	T	110487479	3	4	115	1	0	0	0	0	1	0	0	0	12020	893	31	1	8940	1	PKHD1L1	8	110487479	Missense_Mutation	SNP	C	TCGA-DU-7300-01A-21D-2086-08	83165972	110487479	35876543	27	20753											
ZHX2	22882	broad.mit.edu	37	8	123965332	123965333	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chr8:123965332_123965333delTT	ENST00000314393.4	+	3	2417_2418	c.1582_1583delTT	c.(1582-1584)tttfs	p.F528fs		NM_014943.3	NP_055758.1	Q9Y6X8	ZHX2_HUMAN	zinc fingers and homeoboxes 2	528						cytoplasm|nucleus|plasma membrane	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	45	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		STAD - Stomach adenocarcinoma(47;0.00527)			GTACCCAGACTTTGCCCCCCAG	0.515													17	121	---	---	---	---						-	123965333	TT	-	123965332	7	5	115	1	0	1	0	1	0	0	0	0	17734	1609	56	0	1584	0	ZHX2	8	123965332	Frame_Shift_Del	DEL	TT	TCGA-DU-7300-01A-21D-2086-08	13477853	123965332	22398690	28	20754											
ROR2	4920	broad.mit.edu	37	9	94486807	94486807	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chr9:94486807G>A	ENST00000375708.3	-	9	2167	c.1969C>T	c.(1969-1971)Cgc>Tgc	p.R657C	ROR2_ENST00000550066.1_5'UTR|ROR2_ENST00000375715.1_Missense_Mutation_p.R517C	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	657	Protein kinase.				negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						GCCATCCAGCGGATAGGCAGC	0.572													3	40					0	0	1	0	0	A	94486807	G	A	94486807	3	1	115	1	0	0	0	0	1	0	0	0	13579	1116	39	1	866	1	ROR2	9	94486807	Missense_Mutation	SNP	G	TCGA-DU-7300-01A-21D-2086-08		94486807	46726624	29	20755											
CDC14B	8555	broad.mit.edu	37	9	99296274	99296274	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chr9:99296274G>A	ENST00000375241.1	-	9	1332	c.881C>T	c.(880-882)gCc>gTc	p.A294V	CDC14B_ENST00000375236.1_Missense_Mutation_p.A294V|CDC14B_ENST00000265659.2_Missense_Mutation_p.A294V|CDC14B_ENST00000463569.1_Missense_Mutation_p.A294V|CDC14B_ENST00000375242.3_Missense_Mutation_p.A257V|CDC14B_ENST00000375240.3_Missense_Mutation_p.A294V	NM_003671.3|NM_033331.2	NP_003662.1|NP_201588.1	O60729	CC14B_HUMAN	cell division cycle 14B	294	B.				activation of anaphase-promoting complex activity|DNA repair|G2/M transition DNA damage checkpoint	nucleolus|nucleoplasm	protein binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)	15		Acute lymphoblastic leukemia(62;0.0559)				TTTGACAATGGCATCAGTAGG	0.423													8	8					0	0	1	0	0	A	99296274	G	A	99296274	3	1	115	1	0	0	0	0	1	0	0	0	3079	1203	42	2	639	2	CDC14B	9	99296274	Missense_Mutation	SNP	G	TCGA-DU-7300-01A-21D-2086-08	4809467	99296274	41917157	30	20756											
NOTCH1	4851	broad.mit.edu	37	9	139413070	139413072	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chr9:139413070_139413072delAGA	ENST00000277541.6	-	6	1145_1147	c.1070_1072delTCT	c.(1069-1074)ttctac>tac	p.F357del		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	357	EGF-like 9; calcium-binding (Potential).				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	p.F357delF(4)		breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CACTCGCAGTAGAAGGAGGCCAC	0.655			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			12	44	---	---	---	---						-	139413072	AGA	-	139413070	7	5	115	1	0	1	0	1	0	0	0	0	10594	420	15	0	6711	0	NOTCH1	9	139413070	In_Frame_Del	DEL	AGA	TCGA-DU-7300-01A-21D-2086-08	40116796	139413070	1800361	31	20757											
CACNA1B	774	broad.mit.edu	37	9	140953608	140953608	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chr9:140953608A>T	ENST00000277549.5	+	31	4708	c.2139A>T	c.(2137-2139)gaA>gaT	p.E713D	CACNA1B_ENST00000371363.1_Missense_Mutation_p.E1517D|CACNA1B_ENST00000371355.4_Missense_Mutation_p.E1518D|CACNA1B_ENST00000371357.1_Missense_Mutation_p.E1518D|CACNA1B_ENST00000371372.1_Missense_Mutation_p.E1517D|CACNA1B_ENST00000277551.2_Missense_Mutation_p.E1517D			Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	1517					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	TCTCCATGGAATGCGTGCTGA	0.507													4	43					0	0	1	0	0	T	140953608	A	T	140953608	3	4	115	1	0	0	0	0	1	0	0	0	2557	98	4	4	4669	4	CACNA1B	9	140953608	Missense_Mutation	SNP	A	TCGA-DU-7300-01A-21D-2086-08	1540538	140953608	259823	32	20758											
ITGA8	8516	broad.mit.edu	37	10	15559198	15559198	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chr10:15559198C>T	ENST00000378076.3	-	30	3504	c.3151G>A	c.(3151-3153)Gac>Aac	p.D1051N		NM_003638.1	NP_003629	P53708	ITA8_HUMAN	integrin, alpha 8	1051					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						TGTTCCCTGTCGGTCATGTCC	0.443													15	30					0	0	1	0	0	T	15559198	C	T	15559198	3	4	115	1	0	0	0	0	1	0	0	0	7926	884	31	1	44	1	ITGA8	10	15559198	Missense_Mutation	SNP	C	TCGA-DU-7300-01A-21D-2086-08		15559198	119975549	33	20759											
GIF	2694	broad.mit.edu	37	11	59611461	59611461	+	Silent	SNP	T	T	C			TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chr11:59611461T>C	ENST00000541311.1	-	2	306	c.72A>G	c.(70-72)tcA>tcG	p.S24S	GIF_ENST00000257248.2_Silent_p.S49S			P27352	IF_HUMAN	gastric intrinsic factor (vitamin B synthesis)	49					cobalamin metabolic process|cobalamin transport|cobalt ion transport	apical plasma membrane|endosome|extracellular space|microvillus	cobalamin binding			large_intestine(4)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	17						GGTAGGCTGATGAAGTCACCG	0.522													14	51					0	0	1	0	0	C	59611461	T	C	59611461	2	2	115	1	0	0	0	0	0	0	0	1	6418	1451	51	3		3	GIF	11	59611461	Silent	SNP	T	TCGA-DU-7300-01A-21D-2086-08		59611461	75395055	34	20760											
RAD9A	5883	broad.mit.edu	37	11	67163284	67163286	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chr11:67163284_67163286delGAG	ENST00000307980.2	+	6	640_642	c.547_549delGAG	c.(547-549)gagdel	p.E185del	RAD9A_ENST00000535644.1_3'UTR	NM_001243224.1|NM_004584.2	NP_001230153.1|NP_004575.1	Q99638	RAD9A_HUMAN	RAD9 homolog A (S. pombe)	185					DNA damage checkpoint|DNA repair|DNA replication|DNA replication checkpoint	nucleoplasm	3'-5' exonuclease activity|exodeoxyribonuclease III activity|histone deacetylase binding|protein kinase binding|SH3 domain binding			lung(7)|upper_aerodigestive_tract(1)	8			BRCA - Breast invasive adenocarcinoma(15;8.53e-07)			CAGCTACCACGAGGAGGAGGCAG	0.66								Other conserved DNA damage response genes					18	54	---	---	---	---						-	67163286	GAG	-	67163284	7	5	115	1	0	1	0	1	0	0	0	0	13047	1059	37	0	569	0	RAD9A	11	67163284	In_Frame_Del	DEL	GAG	TCGA-DU-7300-01A-21D-2086-08	7551823	67163284	67843232	35	20761											
BTG4	54766	broad.mit.edu	37	11	111365994	111365994	+	Missense_Mutation	SNP	G	G	A	rs140812937		TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chr11:111365994G>A	ENST00000356018.2	-	5	755	c.556C>T	c.(556-558)Cgc>Tgc	p.R186C		NM_017589.3	NP_060059.1	Q9NY30	BTG4_HUMAN	B-cell translocation gene 4	186					cell cycle arrest|negative regulation of cell proliferation|neuron differentiation			p.R186C(1)		large_intestine(2)|upper_aerodigestive_tract(1)	3		all_cancers(61;3.78e-13)|all_epithelial(67;5.29e-08)|Melanoma(852;3.15e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0204)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;1.22e-06)|BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|all cancers(92;2.18e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0509)		TTCTTTTTGCGGGGGATTTGT	0.448													25	50					0	0	1	0	0	A	111365994	G	A	111365994	3	1	115	1	0	0	0	0	1	0	0	0	1559	1116	39	1	123	1	BTG4	11	111365994	Missense_Mutation	SNP	G	TCGA-DU-7300-01A-21D-2086-08	44202710	111365994	23640522	36	20762											
CNTN1	1272	broad.mit.edu	37	12	41333261	41333261	+	Silent	SNP	G	G	A			TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chr12:41333261G>A	ENST00000551295.2	+	12	1470	c.1353G>A	c.(1351-1353)ggG>ggA	p.G451G	CNTN1_ENST00000348761.2_Silent_p.G440G|CNTN1_ENST00000547849.1_Silent_p.G451G|CNTN1_ENST00000547702.1_Silent_p.G451G|CNTN1_ENST00000347616.1_Silent_p.G451G|CNTN1_ENST00000360099.3_Silent_p.G451G	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	451	Ig-like C2-type 5.				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				GGAGTAAAGGGACAGAGTGGC	0.373													9	25					0	0	1	0	0	A	41333261	G	A	41333261	2	1	115	1	0	0	0	0	0	0	0	1	3663	1161	41	2		2	CNTN1	12	41333261	Silent	SNP	G	TCGA-DU-7300-01A-21D-2086-08		41333261	92518634	37	20763											
MPHOSPH8	54737	broad.mit.edu	37	13	20221185	20221185	+	Silent	SNP	C	C	T			TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chr13:20221185C>T	ENST00000361479.5	+	3	1040	c.972C>T	c.(970-972)acC>acT	p.T324T	MPHOSPH8_ENST00000414242.2_Silent_p.T324T	NM_017520.3	NP_059990.2	Q99549	MPP8_HUMAN	M-phase phosphoprotein 8	324					cell cycle	cytoplasm|nucleus		p.T324T(1)		breast(2)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_cancers(29;2.83e-16)|all_lung(29;1.16e-17)|all_epithelial(30;8.13e-16)|Lung NSC(5;6.91e-15)|Lung SC(185;0.0367)		all cancers(112;8.43e-05)|Epithelial(112;0.000426)|OV - Ovarian serous cystadenocarcinoma(117;0.00596)|Lung(94;0.015)|LUSC - Lung squamous cell carcinoma(192;0.0795)		AGGAGGATACCGATGTCAGAG	0.498													13	40					0	0	1	0	0	T	20221185	C	T	20221185	2	4	115	1	0	0	0	0	0	0	0	1	9776	639	23	1		1	MPHOSPH8	13	20221185	Silent	SNP	C	TCGA-DU-7300-01A-21D-2086-08		20221185	94948693	38	20764											
LATS2	26524	broad.mit.edu	37	13	21562426	21562426	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chr13:21562426C>A	ENST00000382592.4	-	4	1898	c.1493G>T	c.(1492-1494)gGc>gTc	p.G498V	LATS2_ENST00000542899.1_Missense_Mutation_p.G498V	NM_014572.2	NP_055387.2	Q9NRM7	LATS2_HUMAN	large tumor suppressor kinase 2	498					cell division|G1/S transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|intracellular protein kinase cascade|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity	microtubule organizing center|nucleus|spindle pole	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2)	45		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)		CGGGAAGGCGCCTGCGCCGCC	0.766													6	7					0.000157383	0.00016188	1	1	0	A	21562426	C	A	21562426	3	1	115	1	0	0	0	0	1	0	0	0	8686	739	26	5	1793	5	LATS2	13	21562426	Missense_Mutation	SNP	C	TCGA-DU-7300-01A-21D-2086-08	1341241	21562426	93607452	39	20765											
PCNX	22990	broad.mit.edu	37	14	71443705	71443707	+	In_Frame_Del	DEL	CTT	CTT	-	rs147408993	byFrequency	TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chr14:71443705_71443707delCTT	ENST00000304743.2	+	6	1097_1099	c.651_653delCTT	c.(649-654)tccttc>tcc	p.F218del	PCNX_ENST00000439984.3_In_Frame_Del_p.F218del|PCNX_ENST00000238570.5_In_Frame_Del_p.F218del	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	218						integral to membrane				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		CCAATGACTCCTTCATCTCTATT	0.414													7	113	---	---	---	---						-	71443707	CTT	-	71443705	7	5	115	1	0	1	0	1	0	0	0	0	11638	668	24	0	673	0	PCNX	14	71443705	In_Frame_Del	DEL	CTT	TCGA-DU-7300-01A-21D-2086-08		71443705	35905835	40	20766											
TTBK2	146057	broad.mit.edu	37	15	43045062	43045066	+	Frame_Shift_Del	DEL	ACTTA	ACTTA	-			TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chr15:43045062_43045066delACTTA	ENST00000267890.6	-	14	2486_2490	c.2378_2382delTAAGT	c.(2377-2382)ttaagtfs	p.LS793fs		NM_173500.3	NP_775771.3	Q6IQ55	TTBK2_HUMAN	tau tubulin kinase 2	793					cell death		ATP binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;3.23e-07)		GCTGCCCTCTACTTAACTTCTCATC	0.4													27	85	---	---	---	---						-	43045066	ACTTA	-	43045062	7	5	115	1	0	1	0	1	0	0	0	0	16739	388	14	0	1360	0	TTBK2	15	43045062	Frame_Shift_Del	DEL	ACTTA	TCGA-DU-7300-01A-21D-2086-08		43045062	59486330	41	20767											
IREB2	3658	broad.mit.edu	37	15	78764190	78764192	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chr15:78764190_78764192delCCT	ENST00000258886.8	+	7	956_958	c.807_809delCCT	c.(805-810)gacctc>gac	p.L271del	IREB2_ENST00000560440.1_In_Frame_Del_p.L271del	NM_004136.2	NP_004127	P48200	IREB2_HUMAN	iron-responsive element binding protein 2	271							4 iron, 4 sulfur cluster binding|metal ion binding|protein binding			central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	41				UCEC - Uterine corpus endometrioid carcinoma (272;0.232)		AAGAAAAAGACCTCCTCTTCCCA	0.399													20	54	---	---	---	---						-	78764192	CCT	-	78764190	7	5	115	1	0	1	0	1	0	0	0	0	7870	506	18	0	833	0	IREB2	15	78764190	In_Frame_Del	DEL	CCT	TCGA-DU-7300-01A-21D-2086-08	35719128	78764190	23767202	42	20768											
CCDC113	29070	broad.mit.edu	37	16	58287907	58287907	+	Silent	SNP	A	A	G			TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chr16:58287907A>G	ENST00000219299.4	+	3	313	c.234A>G	c.(232-234)cgA>cgG	p.R78R	CCDC113_ENST00000443128.2_Intron	NM_014157.3	NP_054876.2	Q9H0I3	CC113_HUMAN	coiled-coil domain containing 113	78						protein complex				large_intestine(4)|lung(6)|ovary(1)|urinary_tract(1)	12						TGCAGTTTCGAGGCAGGCGTA	0.498													41	72					0	0	1	0	0	G	58287907	A	G	58287907	2	3	115	1	0	0	0	0	0	0	0	1	2768	291	11	3		3	CCDC113	16	58287907	Silent	SNP	A	TCGA-DU-7300-01A-21D-2086-08		58287907	32066846	43	20769											
ACADVL	37	broad.mit.edu	37	17	7125570	7125572	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chr17:7125570_7125572delAGG	ENST00000356839.5	+	9	1006_1008	c.827_829delAGG	c.(826-831)aaggag>aag	p.E277del	ACADVL_ENST00000543245.2_In_Frame_Del_p.E300del|ACADVL_ENST00000350303.5_In_Frame_Del_p.E255del	NM_000018.3|NM_001270448.1	NP_000009.1|NP_001257377.1	P49748	ACADV_HUMAN	acyl-CoA dehydrogenase, very long chain	277	Catalytic.				energy derivation by oxidation of organic compounds|fatty acid beta-oxidation using acyl-CoA dehydrogenase|negative regulation of fatty acid biosynthetic process|negative regulation of fatty acid oxidation|regulation of cholesterol metabolic process|temperature homeostasis	mitochondrial inner membrane|mitochondrial nucleoid	long-chain-acyl-CoA dehydrogenase activity			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(2)|liver(2)|lung(1)|ovary(4)|skin(1)	21						GGAGCCGTGAAGGAGAAGATCAC	0.552													25	75	---	---	---	---						-	7125572	AGG	-	7125570	7	5	115	1	0	1	0	1	0	0	0	0	116	72	3	0	861	0	ACADVL	17	7125570	In_Frame_Del	DEL	AGG	TCGA-DU-7300-01A-21D-2086-08		7125570	74069640	44	20770											
TP53	7157	broad.mit.edu	37	17	7577094	7577094	+	Missense_Mutation	SNP	G	G	A	rs28934574		TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chr17:7577094G>A	ENST00000420246.2	-	8	976	c.844C>T	c.(844-846)Cgg>Tgg	p.R282W	TP53_ENST00000445888.2_Missense_Mutation_p.R282W|TP53_ENST00000269305.4_Missense_Mutation_p.R282W|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.R282W|TP53_ENST00000455263.2_Missense_Mutation_p.R282W	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	282	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		DR -> EW (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934574).		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.R282W(401)|p.R282G(29)|p.0?(8)|p.R282fs*24(4)|p.R282R(3)|p.?(2)|p.D281fs*63(2)|p.D281_R282>EW(2)|p.A276_R283delACPGRDRR(1)|p.D281_R282insXX(1)|p.C275fs*20(1)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.D281_R282delDR(1)|p.G279fs*59(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.R282fs*63(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(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)		TCTGTGCGCCGGTCTCTCCCA	0.557		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)			20	44					0	0	1	0	0	A	7577094	G	A	7577094	3	1	115	1	0	0	0	0	1	0	0	0	16442	1115	39	1	442	1	TP53	17	7577094	Missense_Mutation	SNP	G	TCGA-DU-7300-01A-21D-2086-08	451524	7577094	73618116	45	20771											
GFAP	2670	broad.mit.edu	37	17	42991175	42991175	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chr17:42991175G>T	ENST00000253408.5	-	3	604	c.539C>A	c.(538-540)aCc>aAc	p.T180N	GFAP_ENST00000588735.1_Intron|GFAP_ENST00000591327.1_5'UTR|GFAP_ENST00000435360.2_Missense_Mutation_p.T180N|GFAP_ENST00000586793.1_Missense_Mutation_p.T180N	NM_002055.4	NP_002046.1	P14136	GFAP_HUMAN	glial fibrillary acidic protein	180	Coil 1B.|Rod.					cytoplasm|intermediate filament	structural constituent of cytoskeleton			endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(11)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23		Prostate(33;0.0959)				ACGGGCCAGGGTGGCTTCATC	0.622													65	97					4.09166e-32	4.5323e-32	1	1	0	T	42991175	G	T	42991175	3	4	115	1	0	0	0	0	1	0	0	0	6379	1261	44	5	916	5	GFAP	17	42991175	Missense_Mutation	SNP	G	TCGA-DU-7300-01A-21D-2086-08	35414081	42991175	38204035	46	20772											
BAHCC1	57597	broad.mit.edu	37	17	79428907	79428909	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chr17:79428907_79428909delCAG	ENST00000307745.7	+	30	7218_7220	c.7218_7220delCAG	c.(7216-7221)cccagc>ccc	p.S2410del	RP11-1055B8.8_ENST00000572590.1_RNA																							GCTCAGGCCCCAGCAGCAGCAGC	0.69													2	4	---	---	---	---						-	79428909	CAG	-	79428907	7	5	115	1	0	1	0	1	0	0	0	0	1294	581	21	0	7151	0	BAHCC1	17	79428907	In_Frame_Del	DEL	CAG	TCGA-DU-7300-01A-21D-2086-08	36437732	79428907	1766303	47	20773											
TSHZ1	10194	broad.mit.edu	37	18	72997649	72997651	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chr18:72997649_72997651delAGA	ENST00000322038.5	+	2	736_738	c.152_154delAGA	c.(151-156)gagaag>gag	p.K52del	TSHZ1_ENST00000580243.1_In_Frame_Del_p.K97del	NM_005786.5	NP_005777.3	Q6ZSZ6	TSH1_HUMAN	teashirt zinc finger homeobox 1	97						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		TCTCGAGAAGAGAAGGAGGATCC	0.586													14	32	---	---	---	---						-	72997651	AGA	-	72997649	7	5	115	1	0	1	0	1	0	0	0	0	16684	304	11	0	154	0	TSHZ1	18	72997649	In_Frame_Del	DEL	AGA	TCGA-DU-7300-01A-21D-2086-08		72997649	5079599	48	20774											
ELANE	1991	broad.mit.edu	37	19	852925	852925	+	Silent	SNP	C	C	T			TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chr19:852925C>T	ENST00000590230.1	+	3	258	c.117C>T	c.(115-117)caC>caT	p.H39H	ELANE_ENST00000263621.1_Silent_p.H39H			P08246	ELNE_HUMAN	elastase, neutrophil expressed	39	Peptidase S1.				cellular calcium ion homeostasis|negative regulation of chemokine biosynthetic process|negative regulation of chemotaxis|negative regulation of inflammatory response|negative regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of MAP kinase activity|positive regulation of smooth muscle cell proliferation|protein catabolic process|proteolysis|response to UV	cell surface|extracellular region|stored secretory granule	bacterial cell surface binding|cytokine binding|heparin binding			breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(1)|lung(4)|pancreas(1)	13					Alpha-1-proteinase inhibitor(DB00058)|Filgrastim(DB00099)|Pegfilgrastim(DB00019)	CGCGGCCCCACGCGTGGCCCT	0.721													6	22					0	0	1	0	0	T	852925	C	T	852925	2	4	115	1	0	0	0	0	0	0	0	1	5076	535	19	1		1	ELANE	19	852925	Silent	SNP	C	TCGA-DU-7300-01A-21D-2086-08		852925	58276058	49	20775											
PKN1	5585	broad.mit.edu	37	19	14557260	14557260	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chr19:14557260C>A	ENST00000242783.6	+	4	662	c.497C>A	c.(496-498)gCc>gAc	p.A166D	PKN1_ENST00000342216.4_Missense_Mutation_p.A172D|PKN1_ENST00000587429.1_3'UTR	NM_002741.3	NP_002732.3	Q16512	PKN1_HUMAN	protein kinase N1	166					activation of JUN kinase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	endosome|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|GTP-Rho binding|histone binding|histone deacetylase binding|histone kinase activity (H3-T11 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|Rac GTPase binding			breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)	31						CTGCTGACAGCCCAGCAGATG	0.612													6	126					3.59834e-05	3.75479e-05	1	1	0	A	14557260	C	A	14557260	3	1	115	1	0	0	0	0	1	0	0	0	12027	739	26	5	554	5	PKN1	19	14557260	Missense_Mutation	SNP	C	TCGA-DU-7300-01A-21D-2086-08	13704335	14557260	44571723	50	20776											
LRP3	4037	broad.mit.edu	37	19	33696671	33696671	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chr19:33696671G>A	ENST00000253193.7	+	5	1197	c.995G>A	c.(994-996)cGg>cAg	p.R332Q		NM_002333.3	NP_002324.2	O75074	LRP3_HUMAN	low density lipoprotein receptor-related protein 3	332	CUB 2.				receptor-mediated endocytosis	coated pit|integral to membrane	receptor activity			breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)	15	Esophageal squamous(110;0.137)					AGCAACCACCGGCCCGTGAGC	0.706													9	1					0	0	1	0	0	A	33696671	G	A	33696671	3	1	115	1	0	0	0	0	1	0	0	0	9003	1116	39	1	1013	1	LRP3	19	33696671	Missense_Mutation	SNP	G	TCGA-DU-7300-01A-21D-2086-08	19139411	33696671	25432312	51	20777											
EID2B	126272	broad.mit.edu	37	19	40023078	40023081	+	Frame_Shift_Del	DEL	ACAA	ACAA	-			TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chr19:40023078_40023081delACAA	ENST00000326282.4	-	1	413_416	c.362_365delTTGT	c.(361-366)tttgtgfs	p.FV121fs	EID2B_ENST00000601837.1_Intron|CTB-60E11.9_ENST00000594676.1_RNA	NM_152361.1	NP_689574.1	Q96D98	EID2B_HUMAN	EP300 interacting inhibitor of differentiation 2B	121					cell differentiation|muscle organ development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				endometrium(1)|lung(1)|urinary_tract(1)	3	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;8.61e-26)|all cancers(26;2.76e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			GCAGCCTTCCACAAACAGCCTGCG	0.574													18	45	---	---	---	---						-	40023081	ACAA	-	40023078	7	5	115	1	0	1	0	1	0	0	0	0	5014	159	6	0	124	0	EID2B	19	40023078	Frame_Shift_Del	DEL	ACAA	TCGA-DU-7300-01A-21D-2086-08	6326407	40023078	19105905	52	20778											
PRX	57716	broad.mit.edu	37	19	40899883	40899883	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chr19:40899883G>A	ENST00000324001.7	-	7	4646	c.4376C>T	c.(4375-4377)gCg>gTg	p.A1459V	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	1459					axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TCAGACAGCCGCAGCCTGAGC	0.617													3	51					0	0	1	0	0	A	40899883	G	A	40899883	3	1	115	1	0	0	0	0	1	0	0	0	12691	1087	38	1	13	1	PRX	19	40899883	Missense_Mutation	SNP	G	TCGA-DU-7300-01A-21D-2086-08	876805	40899883	18229100	53	20779											
LILRA1	11024	broad.mit.edu	37	19	55105741	55105741	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chr19:55105741T>A	ENST00000453777.1	+	2	202	c.32T>A	c.(31-33)cTc>cAc	p.L11H	LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000448689.1_Intron|LILRA1_ENST00000251372.3_Missense_Mutation_p.L11H|LILRA1_ENST00000473156.1_Intron|LILRB1_ENST00000418536.2_Intron	NM_001278318.1	NP_001265247.1	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1	11					cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		CTGATCTGTCTCAGTGAGATT	0.587													51	62					0	0	1	0	0	A	55105741	T	A	55105741	3	1	115	1	0	0	0	0	1	0	0	0	8824	1551	54	5	34	5	LILRA1	19	55105741	Missense_Mutation	SNP	T	TCGA-DU-7300-01A-21D-2086-08	14205858	55105741	4023242	54	20780											
TRIM28	10155	broad.mit.edu	37	19	59061018	59061021	+	Splice_Site	DEL	GTGA	GTGA	-			TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chr19:59061018_59061021delGTGA	ENST00000253024.5	+	13	2271		c.e13+1		TRIM28_ENST00000341753.6_Splice_Site	NM_005762.2	NP_005753.1	Q13263	TIF1B_HUMAN	tripartite motif containing 28						epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent	nucleoplasm	chromo shadow domain binding|ligase activity|transcription corepressor activity|zinc ion binding			biliary_tract(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)		ATGTACCAGGGTGAGTGTGAGGCT	0.574													87	141	---	---	---	---						-	59061021	GTGA	-	59061018	8	5	115	1	0	1	0	1	0	0	1	0	16563	1275	44	0	2033	0	TRIM28	19	59061018	Splice_Site	DEL	GTGA	TCGA-DU-7300-01A-21D-2086-08	3955277	59061018	67965	55	20781											
DNAJC28	54943	broad.mit.edu	37	21	34860571	34860571	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chr21:34860571A>T	ENST00000314399.3	-	2	1568	c.1130T>A	c.(1129-1131)aTg>aAg	p.M377K	DNAJC28_ENST00000402202.1_Missense_Mutation_p.M377K|DNAJC28_ENST00000381947.3_Missense_Mutation_p.M377K	NM_017833.3	NP_060303.2	Q9NX36	DJC28_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 28	377				LIVPILTRQKVHFDAQKEIVRAQKIYETLIKTKEVTDRNPN NLDQGEGEKTPEIKKGFLNWMNLWKFIKIRSF -> CSHPD QAKSPF (in Ref. 2; BAA91185).			heat shock protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(5)|skin(1)|urinary_tract(1)	18						CCACAGATTCATCCAGTTTAA	0.299													8	20					0	0	1	0	0	T	34860571	A	T	34860571	3	4	115	1	0	0	0	0	1	0	0	0	4673	217	8	4	40	4	DNAJC28	21	34860571	Missense_Mutation	SNP	A	TCGA-DU-7300-01A-21D-2086-08		34860571	13269324	56	20782											
COL6A1	1291	broad.mit.edu	37	21	47409674	47409674	+	Silent	SNP	A	A	G			TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chr21:47409674A>G	ENST00000361866.3	+	11	1026	c.912A>G	c.(910-912)aaA>aaG	p.K304K		NM_001848.2	NP_001839.2	P12109	CO6A1_HUMAN	collagen, type VI, alpha 1	304	Triple-helical region.				axon guidance|cell adhesion|protein heterotrimerization	collagen type VI|protein complex	platelet-derived growth factor binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	all_hematologic(128;0.24)			Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)	Palifermin(DB00039)	AGGGAGAAAAAGGGAGCCGTG	0.637													3	111					0	0	1	0	0	G	47409674	A	G	47409674	2	3	115	1	0	0	0	0	0	0	0	1	3722	69	3	3		3	COL6A1	21	47409674	Silent	SNP	A	TCGA-DU-7300-01A-21D-2086-08	12549103	47409674	720221	57	20783											
HDAC10	83933	broad.mit.edu	37	22	50689416	50689416	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chr22:50689416G>T	ENST00000216271.5	-	1	398	c.46C>A	c.(46-48)Ctg>Atg	p.L16M	HDAC10_ENST00000448072.1_Missense_Mutation_p.L16M|HDAC10_ENST00000498366.1_Intron|MAPK12_ENST00000497036.1_5'UTR|HDAC10_ENST00000349505.4_Missense_Mutation_p.L16M	NM_001159286.1|NM_032019.5	NP_001152758.1|NP_114408.3	Q969S8	HDA10_HUMAN	histone deacetylase 10	16	Histone deacetylase.				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|nucleus	histone deacetylase activity|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)			endometrium(2)|kidney(2)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	8		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		TCCCAGAGCAGCCGGGTGGCC	0.667													27	41					7.01153e-11	7.64895e-11	1	1	0	T	50689416	G	T	50689416	3	4	115	1	0	0	0	0	1	0	0	0	7046	962	34	4	2043	4	HDAC10	22	50689416	Missense_Mutation	SNP	G	TCGA-DU-7300-01A-21D-2086-08		50689416	615150	58	20784											
ARSF	416	broad.mit.edu	37	X	3021883	3021883	+	Missense_Mutation	SNP	C	C	T	rs141853880	byFrequency	TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chrX:3021883C>T	ENST00000381127.1	+	9	1404	c.1183C>T	c.(1183-1185)Cgg>Tgg	p.R395W	ARSF_ENST00000359361.2_Missense_Mutation_p.R395W|ARSF_ENST00000537104.1_Missense_Mutation_p.R395W	NM_001201538.1|NM_001201539.1	NP_001188467.1|NP_001188468.1	P54793	ARSF_HUMAN	arylsulfatase F	395						extracellular region	arylsulfatase activity|metal ion binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	38		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				ACCAGCTGGACGGTTGATTAA	0.478													36	80					0	0	1	0	0	T	3021883	C	T	3021883	3	4	115	1	0	0	0	0	1	0	0	0	990	527	19	1	1213	1	ARSF	23	3021883	Missense_Mutation	SNP	C	TCGA-DU-7300-01A-21D-2086-08		3021883	152248677	59	20785											
WWC3	55841	broad.mit.edu	37	X	10085535	10085535	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chrX:10085535C>T	ENST00000380861.4	+	11	1827	c.1436C>T	c.(1435-1437)tCg>tTg	p.S479L	WWC3_ENST00000454666.1_Missense_Mutation_p.S479L	NM_015691.3	NP_056506.2	Q9ULE0	WWC3_HUMAN	WWC family member 3	479										NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						TCACGGGACTCGCCGCTGGCG	0.706													7	16					0	0	1	0	0	T	10085535	C	T	10085535	3	4	115	1	0	0	0	0	1	0	0	0	17473	893	31	1	1474	1	WWC3	23	10085535	Missense_Mutation	SNP	C	TCGA-DU-7300-01A-21D-2086-08	7063652	10085535	145185025	60	20786											
RPS6KA3	6197	broad.mit.edu	37	X	20205954	20205954	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chrX:20205954C>A	ENST00000379565.3	-	9	973	c.766G>T	c.(766-768)Gtg>Ttg	p.V256L	RPS6KA3_ENST00000540702.1_Missense_Mutation_p.V228L|RPS6KA3_ENST00000544447.1_Missense_Mutation_p.V228L|RPS6KA3_ENST00000379548.4_Missense_Mutation_p.V227L	NM_004586.2	NP_004577.1	P51812	KS6A3_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 3	256	Protein kinase 1.				axon guidance|central nervous system development|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|skeletal system development|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|caspase inhibitor activity|magnesium ion binding|protein serine/threonine kinase activity	p.V256M(1)		breast(4)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(14)|lung(7)|ovary(1)|stomach(1)	41						ACCATTAACACACCAAAAGAC	0.388													68	189					1.10345e-40	1.24139e-40	1	1	0	A	20205954	C	A	20205954	3	1	115	1	0	0	0	0	1	0	0	0	13704	478	17	5	1512	5	RPS6KA3	23	20205954	Missense_Mutation	SNP	C	TCGA-DU-7300-01A-21D-2086-08	10120419	20205954	135064606	61	20787											
ZNF630	57232	broad.mit.edu	37	X	47918328	47918328	+	Silent	SNP	A	A	C			TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chrX:47918328A>C	ENST00000276054.4	-	5	2065	c.1131T>G	c.(1129-1131)ccT>ccG	p.P377P	ZNF630_ENST00000409324.3_Silent_p.P501P|ZNF630_ENST00000442455.3_Silent_p.P487P|ZNF630-AS1_ENST00000436124.1_RNA			Q2M218	ZN630_HUMAN	zinc finger protein 630	501					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(6)|lung(11)|ovary(1)	19						GTATGATAAGAGGTGATTTCT	0.413													32	42					0	0	1	0	0	C	47918328	A	C	47918328	2	2	115	1	0	0	0	0	0	0	0	1	18111	291	11	5		5	ZNF630	23	47918328	Silent	SNP	A	TCGA-DU-7300-01A-21D-2086-08	27712374	47918328	107352232	62	20788											
TFE3	7030	broad.mit.edu	37	X	48887870	48887870	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chrX:48887870G>T	ENST00000315869.7	-	10	1786	c.1527C>A	c.(1525-1527)caC>caA	p.H509Q		NM_006521.4	NP_006512.2	P19532	TFE3_HUMAN	transcription factor binding to IGHM enhancer 3	509					humoral immune response|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding		NONO/TFE3(2)|PRCC/TFE3(25)|SFPQ/TFE3(6)|CLTC/TFE3(2)|ASPSCR1/TFE3(167)	central_nervous_system(1)	1						GGTCCCCCAGGTGGTCGCTGG	0.672			T	"SFPQ, ASPSCR1, PRCC, NONO, CLTC"	"papillary renal, alveolar soft part sarcoma, renal"								16	127					8.10497e-08	8.70982e-08	1	1	0	T	48887870	G	T	48887870	3	4	115	1	0	0	0	0	1	0	0	0	15860	1252	44	5	204	5	TFE3	23	48887870	Missense_Mutation	SNP	G	TCGA-DU-7300-01A-21D-2086-08	969542	48887870	106382690	63	20789											
PAGE1	8712	broad.mit.edu	37	X	49458759	49458760	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chrX:49458759_49458760delTT	ENST00000376150.3	-	3	240_241	c.108_109delAA	c.(106-111)caaagtfs	p.S37fs		NM_003785.3	NP_003776.2	O75459	GAGB1_HUMAN	P antigen family, member 1 (prostate associated)	37					cellular defense response					endometrium(1)|large_intestine(2)|lung(2)|skin(1)|urinary_tract(1)	7	Ovarian(276;0.236)					GAATCCTGACTTTGAGTTGGTG	0.46													9	13	---	---	---	---						-	49458760	TT	-	49458759	7	5	115	1	0	1	0	1	0	0	0	0	11436	1609	56	0	347	0	PAGE1	23	49458759	Frame_Shift_Del	DEL	TT	TCGA-DU-7300-01A-21D-2086-08	570889	49458759	105811801	64	20790											
IRS4	8471	broad.mit.edu	37	X	107978402	107978402	+	Silent	SNP	G	G	A			TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chrX:107978402G>A	ENST00000372129.2	-	1	1249	c.1173C>T	c.(1171-1173)gaC>gaT	p.D391D		NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	391						plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						AAAGCATCTCGTCTTCCCCGT	0.652													42	86					0	0	1	0	0	A	107978402	G	A	107978402	2	1	115	1	0	0	0	0	0	0	0	1	7886	1136	40	1		1	IRS4	23	107978402	Silent	SNP	G	TCGA-DU-7300-01A-21D-2086-08	58519643	107978402	47292158	65	20791											
HS6ST2	90161	broad.mit.edu	37	X	132091353	132091353	+	Splice_Site	SNP	C	C	T			TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chrX:132091353C>T	ENST00000370836.2	-	3	845	c.430G>A	c.(430-432)Gtc>Atc	p.V144I	HS6ST2_ENST00000521489.1_Splice_Site_p.V144I	NM_147175.3	NP_671704.3	Q96MM7	H6ST2_HUMAN	heparan sulfate 6-O-sulfotransferase 2	144						integral to membrane	sulfotransferase activity			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(2)	9	Acute lymphoblastic leukemia(192;0.000127)					ATGTTCCCGACGCTGGGGGAA	0.627													10	46					0	0	1	0	0	T	132091353	C	T	132091353	5	4	115	1	0	0	0	0	0	0	1	0	7412	550	19	1	1523	1	HS6ST2	23	132091353	Splice_Site	SNP	C	TCGA-DU-7300-01A-21D-2086-08	24112951	132091353	23179207	66	20792											
GPR50	9248	broad.mit.edu	37	X	150349612	150349612	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chrX:150349612C>A	ENST00000218316.3	+	2	1626	c.1557C>A	c.(1555-1557)gaC>gaA	p.D519E		NM_004224.3	NP_004215.2	Q13585	MTR1L_HUMAN	G protein-coupled receptor 50	519	Pro-rich.				cell-cell signaling	integral to plasma membrane	melatonin receptor activity			breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38	Acute lymphoblastic leukemia(192;6.56e-05)					CCACTGCTGACTATCCCAAGC	0.617													76	179					1.19347e-43	1.36397e-43	1	1	0	A	150349612	C	A	150349612	3	1	115	1	0	0	0	0	1	0	0	0	6737	564	20	4	1563	4	GPR50	23	150349612	Missense_Mutation	SNP	C	TCGA-DU-7300-01A-21D-2086-08	18258259	150349612	4920948	67	20793											
ATP2B3	492	broad.mit.edu	37	X	152827614	152827614	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chrX:152827614G>A	ENST00000370186.1	+	18	3357	c.3031G>A	c.(3031-3033)Ggg>Agg	p.G1011R	ATP2B3_ENST00000370181.2_Missense_Mutation_p.G1011R|ATP2B3_ENST00000393842.1_Missense_Mutation_p.G1011R|ATP2B3_ENST00000359149.3_Missense_Mutation_p.G1025R|ATP2B3_ENST00000263519.4_Missense_Mutation_p.G1025R|ATP2B3_ENST00000349466.2_Missense_Mutation_p.G1025R			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	1025					ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding	p.G1025W(3)|p.G1011W(1)		NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCAGTTTGGCGGGAAGCCCTT	0.612													6	395					0	0	1	0	0	A	152827614	G	A	152827614	3	1	115	1	0	0	0	0	1	0	0	0	1140	1116	39	1	3143	1	ATP2B3	23	152827614	Missense_Mutation	SNP	G	TCGA-DU-7300-01A-21D-2086-08	2478002	152827614	2442946	68	20794											
OR4F5	79501	broad.mit.edu	37	1	69454	69454	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DU-7301-01A-11D-2086-08	TCGA-DU-7301-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8	536cb58b-852c-491a-94f7-ffbea4c98871	g.chr1:69454delC	ENST00000335137.3	+	1	364	c.364delC	c.(364-366)cccfs	p.P122fs		NM_001005484.1	NP_001005484.1	Q8NH21	OR4F5_HUMAN	olfactory receptor, family 4, subfamily F, member 5	122					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			lung(1)|ovary(1)	2	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;3.48e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.21e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000469)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		AATATGCAAGCCCCTACACTA	0.478													2	4	---	---	---	---						-	69454	C	-	69454	7	5	116	1	0	1	0	1	0	0	0	0	11113	739	26	0	366	0	OR4F5	1	69454	Frame_Shift_Del	DEL	C	TCGA-DU-7301-01A-11D-2086-08		69454	249181167	1	20795											
FAM132A	388581	broad.mit.edu	37	1	1179654	1179654	+	Splice_Site	SNP	C	C	T			TCGA-DU-7301-01A-11D-2086-08	TCGA-DU-7301-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8	536cb58b-852c-491a-94f7-ffbea4c98871	g.chr1:1179654C>T	ENST00000330388.2	-	3	327	c.296G>A	c.(295-297)cGg>cAg	p.R99Q		NM_001014980.2	NP_001014980.1	Q5T7M4	F132A_HUMAN	family with sequence similarity 132, member A	99						extracellular region				haematopoietic_and_lymphoid_tissue(1)|lung(1)	2	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;2.22e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		GAAGAGATCCCGCTGGGGGGA	0.672													3	44					0	0	1	0	0	T	1179654	C	T	1179654	5	4	116	1	0	0	0	0	0	0	1	0	5473	666	23	1	636	1	FAM132A	1	1179654	Splice_Site	SNP	C	TCGA-DU-7301-01A-11D-2086-08	1110200	1179654	248070967	2	20796											
MYOM3	127294	broad.mit.edu	37	1	24392470	24392470	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-7301-01A-11D-2086-08	TCGA-DU-7301-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8	536cb58b-852c-491a-94f7-ffbea4c98871	g.chr1:24392470T>C	ENST00000330966.7	-	29	3616	c.3454A>G	c.(3454-3456)Act>Gct	p.T1152A	RP11-293P20.2_ENST00000439239.2_RNA|MYOM3_ENST00000338909.5_Missense_Mutation_p.T42A|MYOM3_ENST00000374434.3_Missense_Mutation_p.T1149A|MYOM3_ENST00000329601.7_Missense_Mutation_p.T1151A			Q5VTT5	MYOM3_HUMAN	myomesin 3	1149	Ig-like C2-type 3.									NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		TGAAAGCGAGTCTCCTTCTTG	0.517													5	160					0	0	1	0	0	C	24392470	T	C	24392470	3	2	116	1	0	0	0	0	1	0	0	0	10141	1667	58	3	904	3	MYOM3	1	24392470	Missense_Mutation	SNP	T	TCGA-DU-7301-01A-11D-2086-08	23212816	24392470	224858151	3	20797											
DOCK7	85440	broad.mit.edu	37	1	62995074	62995074	+	Silent	SNP	A	A	G			TCGA-DU-7301-01A-11D-2086-08	TCGA-DU-7301-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8	536cb58b-852c-491a-94f7-ffbea4c98871	g.chr1:62995074A>G	ENST00000251157.5	-	30	3688	c.3655T>C	c.(3655-3657)Tta>Cta	p.L1219L	DOCK7_ENST00000340370.5_Silent_p.L1188L	NM_001271999.1	NP_001258928.1	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	1219					activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						CTGGAGAGTAAATTGTGTACC	0.408													35	58					0	0	1	0	0	G	62995074	A	G	62995074	2	3	116	1	0	0	0	0	0	0	0	1	4719	11	1	3		3	DOCK7	1	62995074	Silent	SNP	A	TCGA-DU-7301-01A-11D-2086-08	38602604	62995074	186255547	4	20798											
NOTCH2	4853	broad.mit.edu	37	1	120491679	120491680	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-DU-7301-01A-11D-2086-08	TCGA-DU-7301-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8	536cb58b-852c-491a-94f7-ffbea4c98871	g.chr1:120491679_120491680delCT	ENST00000256646.2	-	16	2768_2769	c.2549_2550delAG	c.(2548-2550)gagfs	p.E850fs		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	850	EGF-like 22.				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)		AATTTGGTGACTCTTTGCAAAC	0.431			"N, F, Mis"		"marginal zone lymphoma, DLBCL"				Alagille Syndrome		OREG0013733	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	201	---	---	---	---						-	120491680	CT	-	120491679	7	5	116	1	0	1	0	1	0	0	0	0	10595	564	20	0	4941	0	NOTCH2	1	120491679	Frame_Shift_Del	DEL	CT	TCGA-DU-7301-01A-11D-2086-08	57496605	120491679	128758942	5	20799											
NOTCH2	4853	broad.mit.edu	37	1	120497724	120497725	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DU-7301-01A-11D-2086-08	TCGA-DU-7301-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8	536cb58b-852c-491a-94f7-ffbea4c98871	g.chr1:120497724_120497725insT	ENST00000256646.2	-	13	2376_2377	c.2157_2158insA	c.(2155-2160)tcacagfs	p.Q720fs		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	720	EGF-like 19.				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)		TCGTTCACCTGTGAGTAGCAGC	0.535			"N, F, Mis"		"marginal zone lymphoma, DLBCL"				Alagille Syndrome				9	141	---	---	---	---						T	120497725	-	T	120497724	7	5	116	1	0	1	1	0	0	0	0	0	10595	1386	48	0	5345	0	NOTCH2	1	120497724	Frame_Shift_Ins	INS	-	TCGA-DU-7301-01A-11D-2086-08	6045	120497724	128752897	6	20800											
INSRR	3645	broad.mit.edu	37	1	156814052	156814052	+	Silent	SNP	G	G	A			TCGA-DU-7301-01A-11D-2086-08	TCGA-DU-7301-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8	536cb58b-852c-491a-94f7-ffbea4c98871	g.chr1:156814052G>A	ENST00000368195.3	-	15	3154	c.2758C>T	c.(2758-2760)Ctg>Ttg	p.L920L	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	920					protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					AGGACATGCAGCCCCCCAGCA	0.562													4	82					0	0	1	0	0	A	156814052	G	A	156814052	2	1	116	1	0	0	0	0	0	0	0	1	7818	962	34	2		2	INSRR	1	156814052	Silent	SNP	G	TCGA-DU-7301-01A-11D-2086-08	36316328	156814052	92436569	7	20801											
CCDC19	25790	broad.mit.edu	37	1	159842834	159842834	+	Missense_Mutation	SNP	G	G	A	rs148876212	byFrequency	TCGA-DU-7301-01A-11D-2086-08	TCGA-DU-7301-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8	536cb58b-852c-491a-94f7-ffbea4c98871	g.chr1:159842834G>A	ENST00000426543.2	-	11	1677	c.1222C>T	c.(1222-1224)Cgg>Tgg	p.R408W	CCDC19_ENST00000476696.1_5'UTR|CCDC19_ENST00000368099.4_Missense_Mutation_p.R493W			Q9UL16	CCD19_HUMAN	coiled-coil domain containing 19	493						mitochondrion|soluble fraction				endometrium(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	26	all_hematologic(112;0.0597)		BRCA - Breast invasive adenocarcinoma(70;0.151)			GTGGCAATCCGGTTCTGCACT	0.597													7	99					0	0	1	0	0	A	159842834	G	A	159842834	3	1	116	1	0	0	0	0	1	0	0	0	2814	1115	39	1	186	1	CCDC19	1	159842834	Missense_Mutation	SNP	G	TCGA-DU-7301-01A-11D-2086-08	3028782	159842834	89407787	8	20802											
PPFIA4	8497	broad.mit.edu	37	1	203025938	203025938	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-7301-01A-11D-2086-08	TCGA-DU-7301-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8	536cb58b-852c-491a-94f7-ffbea4c98871	g.chr1:203025938C>G	ENST00000367240.2	+	18	2731	c.2204C>G	c.(2203-2205)cCc>cGc	p.P735R	PPFIA4_ENST00000272198.6_Missense_Mutation_p.P250R|PPFIA4_ENST00000447715.2_Missense_Mutation_p.P734R|PPFIA4_ENST00000414050.2_Missense_Mutation_p.P463R|PPFIA4_ENST00000295706.4_Missense_Mutation_p.P250R|PPFIA4_ENST00000599966.1_Missense_Mutation_p.P250R			O75335	LIPA4_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4	250					cell communication	cell surface|cytoplasm	protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(20)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	50						GGCAGCAACCCCAGCAGCAGC	0.562													4	11					0	0	1	0	0	G	203025938	C	G	203025938	3	3	116	1	0	0	0	0	1	0	0	0	12357	623	22	5	771	5	PPFIA4	1	203025938	Missense_Mutation	SNP	C	TCGA-DU-7301-01A-11D-2086-08	43183104	203025938	46224683	9	20803											
WDR33	55339	broad.mit.edu	37	2	128477431	128477431	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7301-01A-11D-2086-08	TCGA-DU-7301-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8	536cb58b-852c-491a-94f7-ffbea4c98871	g.chr2:128477431G>A	ENST00000322313.4	-	16	2326	c.2168C>T	c.(2167-2169)cCt>cTt	p.P723L		NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33	723	Collagen-like.				postreplication repair|spermatogenesis	collagen|nucleus	protein binding			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		CTGAGGGCCAGGCGGGCCTTG	0.632													5	81					0	0	1	0	0	A	128477431	G	A	128477431	3	1	116	1	0	0	0	0	1	0	0	0	17347	1000	35	2	1870	2	WDR33	2	128477431	Missense_Mutation	SNP	G	TCGA-DU-7301-01A-11D-2086-08		128477431	114721942	10	20804											
NEB	4703	broad.mit.edu	37	2	152383461	152383461	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7301-01A-11D-2086-08	TCGA-DU-7301-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8	536cb58b-852c-491a-94f7-ffbea4c98871	g.chr2:152383461C>T	ENST00000427231.2	-	148	22118	c.21916G>A	c.(21916-21918)Gcc>Acc	p.A7306T	NEB_ENST00000604864.1_Missense_Mutation_p.A7306T|NEB_ENST00000397345.3_Missense_Mutation_p.A7306T|NEB_ENST00000603639.1_Missense_Mutation_p.A7306T|NEB_ENST00000409198.1_Missense_Mutation_p.A5605T|NEB_ENST00000172853.10_Missense_Mutation_p.A5605T	NM_001164507.1|NM_001271208.1	NP_001157979|NP_001258137.1	P20929	NEBU_HUMAN	nebulin	5605					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TTCCTGAGGGCGAGCACCGTG	0.463													6	9					0	0	1	0	0	T	152383461	C	T	152383461	3	4	116	1	0	0	0	0	1	0	0	0	10349	768	27	1	3801	1	NEB	2	152383461	Missense_Mutation	SNP	C	TCGA-DU-7301-01A-11D-2086-08	23906030	152383461	90815912	11	20805											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-DU-7301-01A-11D-2086-08	TCGA-DU-7301-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8	536cb58b-852c-491a-94f7-ffbea4c98871	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								35	74					0	0	1	0	0	T	209113112	C	T	209113112	3	4	116	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-DU-7301-01A-11D-2086-08	56729651	209113112	34086261	12	20806											
GOLGA4	2803	broad.mit.edu	37	3	37369109	37369109	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-7301-01A-11D-2086-08	TCGA-DU-7301-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8	536cb58b-852c-491a-94f7-ffbea4c98871	g.chr3:37369109A>G	ENST00000361924.2	+	14	6106	c.5732A>G	c.(5731-5733)cAt>cGt	p.H1911R	GOLGA4_ENST00000444882.1_Intron|GOLGA4_ENST00000356847.4_Missense_Mutation_p.H1933R	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN	golgin A4	1911	Glu-rich.				Golgi to plasma membrane protein transport	Golgi membrane|trans-Golgi network	protein binding			NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						TCCAAATCACATTTGGTCCAA	0.403													49	51					0	0	1	0	0	G	37369109	A	G	37369109	3	3	116	1	0	0	0	0	1	0	0	0	6597	217	8	3	5856	3	GOLGA4	3	37369109	Missense_Mutation	SNP	A	TCGA-DU-7301-01A-11D-2086-08		37369109	160653321	13	20807											
DHX30	22907	broad.mit.edu	37	3	47888021	47888023	+	In_Frame_Del	DEL	ATC	ATC	-			TCGA-DU-7301-01A-11D-2086-08	TCGA-DU-7301-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8	536cb58b-852c-491a-94f7-ffbea4c98871	g.chr3:47888021_47888023delATC	ENST00000446256.2	+	12	1914_1916	c.1342_1344delATC	c.(1342-1344)atcdel	p.I449del	DHX30_ENST00000445061.1_In_Frame_Del_p.I488del|DHX30_ENST00000348968.4_In_Frame_Del_p.I460del|DHX30_ENST00000457607.1_In_Frame_Del_p.I516del	NM_014966.3	NP_055781.2	Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 30	488	Helicase ATP-binding.					mitochondrial nucleoid	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		CTGCAATGTTATCATCACCCAAC	0.65													64	167	---	---	---	---						-	47888023	ATC	-	47888021	7	5	116	1	0	1	0	1	0	0	0	0	4532	449	16	0	1504	0	DHX30	3	47888021	In_Frame_Del	DEL	ATC	TCGA-DU-7301-01A-11D-2086-08	10518912	47888021	150134409	14	20808											
SLC7A11	23657	broad.mit.edu	37	4	139144383	139144386	+	Frame_Shift_Del	DEL	TAAT	TAAT	-			TCGA-DU-7301-01A-11D-2086-08	TCGA-DU-7301-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8	536cb58b-852c-491a-94f7-ffbea4c98871	g.chr4:139144383_139144386delTAAT	ENST00000280612.5	-	4	892_895	c.613_616delATTA	c.(613-618)attatafs	p.II205fs		NM_014331.3	NP_055146.1	Q9UPY5	XCT_HUMAN	solute carrier family 7 (anionic amino acid transporter light chain, xc- system), member 11	205					blood coagulation|cellular nitrogen compound metabolic process|leukocyte migration|response to toxin	integral to membrane|plasma membrane	cystine:glutamate antiporter activity|protein binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(2)	18	all_hematologic(180;0.166)				L-Cystine(DB00138)|L-Glutamic Acid(DB00142)|Sulfasalazine(DB00795)	CCAGGGACTATAATTATCAGAATT	0.387													7	91	---	---	---	---						-	139144386	TAAT	-	139144383	7	5	116	1	0	1	0	1	0	0	0	0	14749	1406	49	0	925	0	SLC7A11	4	139144383	Frame_Shift_Del	DEL	TAAT	TCGA-DU-7301-01A-11D-2086-08		139144383	52009893	15	20809											
FSTL5	56884	broad.mit.edu	37	4	162697089	162697089	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DU-7301-01A-11D-2086-08	TCGA-DU-7301-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8	536cb58b-852c-491a-94f7-ffbea4c98871	g.chr4:162697089delT	ENST00000306100.5	-	5	983	c.547delA	c.(547-549)atgfs	p.M183fs	FSTL5_ENST00000536695.1_Frame_Shift_Del_p.M182fs|FSTL5_ENST00000379164.4_Frame_Shift_Del_p.M182fs|FSTL5_ENST00000427802.2_Frame_Shift_Del_p.M182fs	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	183	EF-hand 1.					extracellular region	calcium ion binding			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		TATTTAAACATTTGATCCACC	0.284													47	27	---	---	---	---						-	162697089	T	-	162697089	7	5	116	1	0	1	0	1	0	0	0	0	6115	1493	52	0	2044	0	FSTL5	4	162697089	Frame_Shift_Del	DEL	T	TCGA-DU-7301-01A-11D-2086-08	23552706	162697089	28457187	16	20810											
ZDHHC11	79844	broad.mit.edu	37	5	840585	840585	+	Missense_Mutation	SNP	C	C	T	rs138234809	by1000genomes	TCGA-DU-7301-01A-11D-2086-08	TCGA-DU-7301-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8	536cb58b-852c-491a-94f7-ffbea4c98871	g.chr5:840585C>T	ENST00000511539.1	-	2	274	c.170G>A	c.(169-171)cGa>cAa	p.R57Q	ZDHHC11_ENST00000424784.2_Intron|ZDHHC11_ENST00000503758.2_Intron|ZDHHC11_ENST00000283441.8_Intron			Q9H8X9	ZDH11_HUMAN	zinc finger, DHHC-type containing 11	0						integral to membrane	acyltransferase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(10)|pancreas(1)|prostate(5)|skin(2)|urinary_tract(1)	21			Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863)			TTGGGGGGATCGGGGGCTTAG	0.597													4	58					0	0	1	0	0	T	840585	C	T	840585	3	4	116	1	0	0	0	0	1	0	0	0	17659	899	31	1		1	ZDHHC11	5	840585	Missense_Mutation	SNP	C	TCGA-DU-7301-01A-11D-2086-08		840585	180074675	17	20811											
AMACR	23600	broad.mit.edu	37	5	33989379	33989379	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-7301-01A-11D-2086-08	TCGA-DU-7301-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8	536cb58b-852c-491a-94f7-ffbea4c98871	g.chr5:33989379A>G	ENST00000335606.6	-	5	1056	c.968T>C	c.(967-969)gTg>gCg	p.V323A	AMACR_ENST00000382072.2_3'UTR|RP11-1084J3.4_ENST00000382079.3_3'UTR|AMACR_ENST00000514195.1_5'UTR|AMACR_ENST00000502637.1_Missense_Mutation_p.V308A|AMACR_ENST00000382085.3_Missense_Mutation_p.V323A	NM_001167595.1|NM_014324.5	NP_001161067.1|NP_055139.4	Q9UHK6	AMACR_HUMAN	alpha-methylacyl-CoA racemase	323					bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	mitochondrion|peroxisomal matrix	alpha-methylacyl-CoA racemase activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1)	19						GCGGGGGCTCACGTCCTGCTC	0.507													42	82					0	0	1	0	0	G	33989379	A	G	33989379	3	3	116	1	0	0	0	0	1	0	0	0	558	159	6	3	242	3	AMACR	5	33989379	Missense_Mutation	SNP	A	TCGA-DU-7301-01A-11D-2086-08	33148794	33989379	146925881	18	20812											
ARSI	340075	broad.mit.edu	37	5	149676821	149676821	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-7301-01A-11D-2086-08	TCGA-DU-7301-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8	536cb58b-852c-491a-94f7-ffbea4c98871	g.chr5:149676821A>G	ENST00000328668.7	-	2	2245	c.1666T>C	c.(1666-1668)Ttt>Ctt	p.F556L		NM_001012301.2	NP_001012301.1	Q5FYB1	ARSI_HUMAN	arylsulfatase family, member I	556						endoplasmic reticulum|extracellular region	arylsulfatase activity|metal ion binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTACGGAAAAAGGATCGAAGC	0.537													3	138					0	0	1	0	0	G	149676821	A	G	149676821	3	3	116	1	0	0	0	0	1	0	0	0	993	72	3	3	47	3	ARSI	5	149676821	Missense_Mutation	SNP	A	TCGA-DU-7301-01A-11D-2086-08	115687442	149676821	31238439	19	20813											
OR10C1	442194	broad.mit.edu	37	6	29408070	29408070	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7301-01A-11D-2086-08	TCGA-DU-7301-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8	536cb58b-852c-491a-94f7-ffbea4c98871	g.chr6:29408070G>A	ENST00000444197.2	+	1	988	c.278G>A	c.(277-279)cGc>cAc	p.R93H	OR11A1_ENST00000377149.1_Intron	NM_013941.3	NP_039229.3	Q96KK4	O10C1_HUMAN	olfactory receptor, family 10, subfamily C, member 1 (gene/pseudogene)	93					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|kidney(1)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						CACATCTCTCGCTCTGGATGT	0.587													51	65					0	0	1	0	0	A	29408070	G	A	29408070	3	1	116	1	0	0	0	0	1	0	0	0	10946	1087	38	1	280	1	OR10C1	6	29408070	Missense_Mutation	SNP	G	TCGA-DU-7301-01A-11D-2086-08		29408070	141706997	20	20814											
ZNF425	155054	broad.mit.edu	37	7	148809259	148809259	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-7301-01A-11D-2086-08	TCGA-DU-7301-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8	536cb58b-852c-491a-94f7-ffbea4c98871	g.chr7:148809259T>A	ENST00000378061.2	-	3	406	c.274A>T	c.(274-276)Atg>Ttg	p.M92L	ZNF425_ENST00000484196.1_5'UTR	NM_001001661.2	NP_001001661.1	Q6IV72	ZN425_HUMAN	zinc finger protein 425	92					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	50	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			GTATTCTTCATGTTCAACTGT	0.363													16	177					0	0	1	0	0	A	148809259	T	A	148809259	3	1	116	1	0	0	0	0	1	0	0	0	17956	1464	51	4	1992	4	ZNF425	7	148809259	Missense_Mutation	SNP	T	TCGA-DU-7301-01A-11D-2086-08		148809259	10329404	21	20815											
UNC5D	137970	broad.mit.edu	37	8	35583683	35583683	+	Silent	SNP	C	C	T			TCGA-DU-7301-01A-11D-2086-08	TCGA-DU-7301-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8	536cb58b-852c-491a-94f7-ffbea4c98871	g.chr8:35583683C>T	ENST00000287272.2	+	9	1130	c.1110C>T	c.(1108-1110)ctC>ctT	p.L370L	UNC5D_ENST00000449677.1_Silent_p.L15L|UNC5D_ENST00000404895.2_Silent_p.L439L|UNC5D_ENST00000420357.1_Silent_p.L372L|UNC5D_ENST00000416672.1_Silent_p.L444L|UNC5D_ENST00000453357.2_Silent_p.L434L			Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	439					apoptosis|axon guidance	integral to membrane	receptor activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		ACTCCCTGCTCCTGAATTCTG	0.502													8	129					0	0	1	0	0	T	35583683	C	T	35583683	2	4	116	1	0	0	0	0	0	0	0	1	17055	842	30	2		2	UNC5D	8	35583683	Silent	SNP	C	TCGA-DU-7301-01A-11D-2086-08		35583683	110780339	22	20816											
FBXO43	286151	broad.mit.edu	37	8	101146458	101146458	+	Silent	SNP	T	T	C			TCGA-DU-7301-01A-11D-2086-08	TCGA-DU-7301-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8	536cb58b-852c-491a-94f7-ffbea4c98871	g.chr8:101146458T>C	ENST00000428847.2	-	4	2125	c.1809A>G	c.(1807-1809)ggA>ggG	p.G603G		NM_001029860.3	NP_001025031.2	Q4G163	FBX43_HUMAN	F-box protein 43	603					meiosis		zinc ion binding	p.G569V(2)|p.G569G(2)|p.G603G(1)|p.G603V(1)		endometrium(1)|kidney(4)|large_intestine(5)|lung(14)|prostate(1)|skin(5)|urinary_tract(1)	31	all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798)		Epithelial(11;1.17e-09)|all cancers(13;1.34e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957)			TCAAAACTTCTCCCCAGGGAG	0.408													58	57					0	0	1	0	0	C	101146458	T	C	101146458	2	2	116	1	0	0	0	0	0	0	0	1	5785	1538	54	3		3	FBXO43	8	101146458	Silent	SNP	T	TCGA-DU-7301-01A-11D-2086-08	65562775	101146458	45217564	23	20817											
ABRA	137735	broad.mit.edu	37	8	107782084	107782084	+	Missense_Mutation	SNP	G	G	A	rs113926734		TCGA-DU-7301-01A-11D-2086-08	TCGA-DU-7301-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8	536cb58b-852c-491a-94f7-ffbea4c98871	g.chr8:107782084G>A	ENST00000311955.3	-	1	389	c.335C>T	c.(334-336)aCg>aTg	p.T112M		NM_139166.4	NP_631905.1	Q8N0Z2	ABRA_HUMAN	actin-binding Rho activating protein	112					positive regulation of Rho protein signal transduction|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent|transmembrane transport	actin cytoskeleton|plasma membrane|sarcomere	actin binding			breast(1)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)	27			OV - Ovarian serous cystadenocarcinoma(57;3.83e-09)			GCTGACCACCGTTTTGGACAC	0.547													5	124					0	0	1	0	0	A	107782084	G	A	107782084	3	1	116	1	0	0	0	0	1	0	0	0	100	1145	40	1	818	1	ABRA	8	107782084	Missense_Mutation	SNP	G	TCGA-DU-7301-01A-11D-2086-08	6635626	107782084	38581938	24	20818											
LAMC3	10319	broad.mit.edu	37	9	133942444	133942444	+	Silent	SNP	C	C	T	rs145571152	byFrequency	TCGA-DU-7301-01A-11D-2086-08	TCGA-DU-7301-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8	536cb58b-852c-491a-94f7-ffbea4c98871	g.chr9:133942444C>T	ENST00000361069.4	+	14	2578	c.2445C>T	c.(2443-2445)aaC>aaT	p.N815N	LAMC3_ENST00000480883.1_Intron	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	815	Laminin EGF-like 8.				cell adhesion	basement membrane|membrane	structural molecule activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		GTAGCGGGAACGTGGACCCCA	0.647													5	39					0	0	1	0	0	T	133942444	C	T	133942444	2	4	116	1	0	0	0	0	0	0	0	1	8655	535	19	1		1	LAMC3	9	133942444	Silent	SNP	C	TCGA-DU-7301-01A-11D-2086-08		133942444	7270987	25	20819											
NOTCH1	4851	broad.mit.edu	37	9	139393364	139393365	+	Frame_Shift_Del	DEL	AT	AT	-			TCGA-DU-7301-01A-11D-2086-08	TCGA-DU-7301-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8	536cb58b-852c-491a-94f7-ffbea4c98871	g.chr9:139393364_139393365delAT	ENST00000277541.6	-	33	6241_6242	c.6166_6167delAT	c.(6166-6168)atgfs	p.M2056fs		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	2056					aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	p.M2057fs*211(1)		breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GTTGTTCTGCATATCTTTGTTA	0.609			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			8	313	---	---	---	---						-	139393365	AT	-	139393364	7	5	116	1	0	1	0	1	0	0	0	0	10594	217	8	0	1508	0	NOTCH1	9	139393364	Frame_Shift_Del	DEL	AT	TCGA-DU-7301-01A-11D-2086-08	5450920	139393364	1820067	26	20820											
PDE6C	5146	broad.mit.edu	37	10	95385365	95385365	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-7301-01A-11D-2086-08	TCGA-DU-7301-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8	536cb58b-852c-491a-94f7-ffbea4c98871	g.chr10:95385365G>T	ENST00000371447.3	+	5	1036	c.898G>T	c.(898-900)Gaa>Taa	p.E300*		NM_006204.3	NP_006195.3	P51160	PDE6C_HUMAN	phosphodiesterase 6C, cGMP-specific, cone, alpha prime	300	GAF 2.				visual perception	plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|metal ion binding	p.V301_E302del(1)		breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.123)				CAAGCTTGGAGAAGTAGAGCC	0.413													6	43					0.000157383	0.000161131	1	1	0	T	95385365	G	T	95385365	4	4	116	1	0	0	0	0	0	1	0	0	11694	943	33	4	916	4	PDE6C	10	95385365	Nonsense_Mutation	SNP	G	TCGA-DU-7301-01A-11D-2086-08		95385365	40149382	27	20821											
OR4A16	81327	broad.mit.edu	37	11	55111136	55111136	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-7301-01A-11D-2086-08	TCGA-DU-7301-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8	536cb58b-852c-491a-94f7-ffbea4c98871	g.chr11:55111136T>G	ENST00000314721.2	+	1	510	c.460T>G	c.(460-462)Tct>Gct	p.S154A		NM_001005274.1	NP_001005274.1	Q8NH70	O4A16_HUMAN	olfactory receptor, family 4, subfamily A, member 16	154					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						TTTTGTGCACTCTGTGGTTCA	0.453													10	161					0	0	1	0	0	G	55111136	T	G	55111136	3	3	116	1	0	0	0	0	1	0	0	0	11089	1551	54	5	462	5	OR4A16	11	55111136	Missense_Mutation	SNP	T	TCGA-DU-7301-01A-11D-2086-08		55111136	79895380	28	20822											
RNASEH2C	84153	broad.mit.edu	37	11	65487791	65487793	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-DU-7301-01A-11D-2086-08	TCGA-DU-7301-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8	536cb58b-852c-491a-94f7-ffbea4c98871	g.chr11:65487791_65487793delCTT	ENST00000308418.4	-	2	456_458	c.268_270delAAG	c.(268-270)aagdel	p.K90del	RNASEH2C_ENST00000528220.1_In_Frame_Del_p.K7del|RNASEH2C_ENST00000527610.1_In_Frame_Del_p.K90del	NM_032193.3	NP_115569.2	Q8TDP1	RNH2C_HUMAN	ribonuclease H2, subunit C	90					RNA catabolic process	nucleus|ribonuclease H2 complex				cervix(1)	1						CCATCGACACCTTCTTCTCTTCT	0.621													13	147	---	---	---	---						-	65487793	CTT	-	65487791	7	5	116	1	0	1	0	1	0	0	0	0	13466	680	24	0	236	0	RNASEH2C	11	65487791	In_Frame_Del	DEL	CTT	TCGA-DU-7301-01A-11D-2086-08	10376655	65487791	69518725	29	20823											
TRPC6	7225	broad.mit.edu	37	11	101375482	101375482	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7301-01A-11D-2086-08	TCGA-DU-7301-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8	536cb58b-852c-491a-94f7-ffbea4c98871	g.chr11:101375482C>T	ENST00000344327.3	-	2	642	c.218G>A	c.(217-219)cGt>cAt	p.R73H	TRPC6_ENST00000526713.1_5'UTR|TRPC6_ENST00000348423.4_Missense_Mutation_p.R73H|TRPC6_ENST00000532133.1_Missense_Mutation_p.R73H|TRPC6_ENST00000360497.4_Missense_Mutation_p.R73H	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel, subfamily C, member 6	73					axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		CCCCTTCTCACGGAGAACTGT	0.463													68	124					0	0	1	0	0	T	101375482	C	T	101375482	3	4	116	1	0	0	0	0	1	0	0	0	16644	536	19	1	2625	1	TRPC6	11	101375482	Missense_Mutation	SNP	C	TCGA-DU-7301-01A-11D-2086-08	35887691	101375482	33631034	30	20824											
NLRX1	79671	broad.mit.edu	37	11	119050958	119050958	+	Missense_Mutation	SNP	G	G	A	rs151306288		TCGA-DU-7301-01A-11D-2086-08	TCGA-DU-7301-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8	536cb58b-852c-491a-94f7-ffbea4c98871	g.chr11:119050958G>A	ENST00000409109.1	+	7	2815	c.2228G>A	c.(2227-2229)cGc>cAc	p.R743H	NLRX1_ENST00000409265.4_Missense_Mutation_p.R743H|NLRX1_ENST00000525863.1_Missense_Mutation_p.R743H|NLRX1_ENST00000409991.1_Missense_Mutation_p.R743H|NLRX1_ENST00000292199.2_Missense_Mutation_p.R743H	NM_001282144.1	NP_001269073.1	Q86UT6	NLRX1_HUMAN	NLR family member X1	743	Required for the repression of MAVS- induced interferon signaling.				innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production	mitochondrial outer membrane	ATP binding			cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	22	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		GCTGGGCTGCGCACACTCCTG	0.612													93	42					0	0	1	0	0	A	119050958	G	A	119050958	3	1	116	1	0	0	0	0	1	0	0	0	10532	1087	38	1	2250	1	NLRX1	11	119050958	Missense_Mutation	SNP	G	TCGA-DU-7301-01A-11D-2086-08	17675476	119050958	15955558	31	20825											
CLEC9A	283420	broad.mit.edu	37	12	10215755	10215755	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-7301-01A-11D-2086-08	TCGA-DU-7301-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8	536cb58b-852c-491a-94f7-ffbea4c98871	g.chr12:10215755T>C	ENST00000355819.1	+	7	1034	c.421T>C	c.(421-423)Tgt>Cgt	p.C141R		NM_207345.2	NP_997228.1	Q6UXN8	CLC9A_HUMAN	C-type lectin domain family 9, member A	141	C-type lectin.				positive regulation of cytokine secretion|receptor-mediated endocytosis	cell surface|integral to membrane	receptor activity|sugar binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	22						TCAAGAGAATTGTTTAAAGGA	0.368													10	103					0	0	1	0	0	C	10215755	T	C	10215755	3	2	116	1	0	0	0	0	1	0	0	0	3545	1812	63	3	435	3	CLEC9A	12	10215755	Missense_Mutation	SNP	T	TCGA-DU-7301-01A-11D-2086-08		10215755	123636140	32	20826											
LGR5	8549	broad.mit.edu	37	12	71978154	71978154	+	Silent	SNP	C	C	G	rs147161623		TCGA-DU-7301-01A-11D-2086-08	TCGA-DU-7301-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8	536cb58b-852c-491a-94f7-ffbea4c98871	g.chr12:71978154C>G	ENST00000266674.5	+	18	2675	c.2364C>G	c.(2362-2364)tcC>tcG	p.S788S	LGR5_ENST00000540815.2_Silent_p.S764S|LGR5_ENST00000536515.1_Silent_p.S716S			O75473	LGR5_HUMAN	leucine-rich repeat containing G protein-coupled receptor 5	788						integral to plasma membrane	protein-hormone receptor activity		NUP107/LGR5(2)	endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						TGTCCTTCTCCTCTTTAATAA	0.428													5	168					0	0	1	0	0	G	71978154	C	G	71978154	2	3	116	1	0	0	0	0	0	0	0	1	8797	668	24	4		4	LGR5	12	71978154	Silent	SNP	C	TCGA-DU-7301-01A-11D-2086-08	61762399	71978154	61873741	33	20827											
CCDC60	160777	broad.mit.edu	37	12	119961500	119961500	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7301-01A-11D-2086-08	TCGA-DU-7301-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8	536cb58b-852c-491a-94f7-ffbea4c98871	g.chr12:119961500G>A	ENST00000327554.2	+	11	1571	c.1106G>A	c.(1105-1107)cGc>cAc	p.R369H	RP11-768F21.1_ENST00000509470.2_lincRNA	NM_178499.3	NP_848594.2	Q8IWA6	CCD60_HUMAN	coiled-coil domain containing 60	369										endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		GTCCACAGCCGCACTAATTGT	0.567													3	65					0	0	1	0	0	A	119961500	G	A	119961500	3	1	116	1	0	0	0	0	1	0	0	0	2851	1087	38	1	1148	1	CCDC60	12	119961500	Missense_Mutation	SNP	G	TCGA-DU-7301-01A-11D-2086-08	47983346	119961500	13890395	34	20828											
TP53	7157	broad.mit.edu	37	17	7578524	7578524	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-7301-01A-11D-2086-08	TCGA-DU-7301-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8	536cb58b-852c-491a-94f7-ffbea4c98871	g.chr17:7578524G>C	ENST00000420246.2	-	5	538	c.406C>G	c.(406-408)Caa>Gaa	p.Q136E	TP53_ENST00000413465.2_Missense_Mutation_p.Q136E|TP53_ENST00000455263.2_Missense_Mutation_p.Q136E|TP53_ENST00000269305.4_Missense_Mutation_p.Q136E|TP53_ENST00000445888.2_Missense_Mutation_p.Q136E|TP53_ENST00000359597.4_Missense_Mutation_p.Q136E	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	136	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q -> E (in sporadic cancers; somatic mutation).|Q -> H (in sporadic cancers; somatic mutation).|Q -> K (in a sporadic cancer; somatic mutation).|Q -> P (in sporadic cancers; somatic mutation).|Q -> R (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.Q136*(34)|p.0?(8)|p.C135fs*9(3)|p.Q136E(3)|p.N131fs*27(2)|p.F134_T140>S(1)|p.K132_A138delKMFCQLA(1)|p.Q136K(1)|p.S127_Q136del10(1)|p.V73fs*9(1)|p.Q43*(1)|p.Y126fs*11(1)|p.Q4*(1)|p.C3fs*9(1)|p.C42fs*9(1)|p.C135_A138delCQLA(1)|p.Q136_K139delQLAK(1)|p.Q136fs*34(1)|p.C135_T140delCQLAKT(1)|p.Q136fs*13(1)|p.C135_Q136insXXXXXX(1)|p.C135_Q136insX(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)		TTGGCCAGTTGGCAAAACATC	0.562		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)			70	4					0	0	1	0	0	C	7578524	G	C	7578524	3	2	116	1	0	0	0	0	1	0	0	0	16442	1357	47	5	892	5	TP53	17	7578524	Missense_Mutation	SNP	G	TCGA-DU-7301-01A-11D-2086-08		7578524	73616686	35	20829											
FAM117A	81558	broad.mit.edu	37	17	47841412	47841412	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7301-01A-11D-2086-08	TCGA-DU-7301-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8	536cb58b-852c-491a-94f7-ffbea4c98871	g.chr17:47841412G>A	ENST00000240364.2	-	1	117	c.38C>T	c.(37-39)gCc>gTc	p.A13V	FAM117A_ENST00000514018.1_Intron|FAM117A_ENST00000513602.1_Intron	NM_030802.3	NP_110429.1	Q9C073	F117A_HUMAN	family with sequence similarity 117, member A	13										haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	17						cggcccccaggcacctccgcc	0.816													4	6					0	0	1	0	0	A	47841412	G	A	47841412	3	1	116	1	0	0	0	0	1	0	0	0	5440	1203	42	2	1355	2	FAM117A	17	47841412	Missense_Mutation	SNP	G	TCGA-DU-7301-01A-11D-2086-08	40262888	47841412	33353798	36	20830											
DSG3	1830	broad.mit.edu	37	18	29054105	29054105	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7301-01A-11D-2086-08	TCGA-DU-7301-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8	536cb58b-852c-491a-94f7-ffbea4c98871	g.chr18:29054105C>T	ENST00000257189.4	+	15	2206	c.2123C>T	c.(2122-2124)gCc>gTc	p.A708V		NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3	708					cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			AATACGTATGCCAGAGGCACA	0.438													6	126					0	0	1	0	0	T	29054105	C	T	29054105	3	4	116	1	0	0	0	0	1	0	0	0	4804	739	26	2	2181	2	DSG3	18	29054105	Missense_Mutation	SNP	C	TCGA-DU-7301-01A-11D-2086-08		29054105	49023143	37	20831											
ARHGEF1	9138	broad.mit.edu	37	19	42396179	42396179	+	Silent	SNP	C	C	T			TCGA-DU-7301-01A-11D-2086-08	TCGA-DU-7301-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8	536cb58b-852c-491a-94f7-ffbea4c98871	g.chr19:42396179C>T	ENST00000599846.1	+	5	434	c.309C>T	c.(307-309)ttC>ttT	p.F103F	ARHGEF1_ENST00000596957.1_3'UTR|ARHGEF1_ENST00000354532.3_Silent_p.F103F|ARHGEF1_ENST00000347545.4_Intron|ARHGEF1_ENST00000378152.4_Intron|ARHGEF1_ENST00000337665.4_Silent_p.F118F			Q92888	ARHG1_HUMAN	Rho guanine nucleotide exchange factor (GEF) 1	103	RGSL.				cell proliferation|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis|regulation of Rho protein signal transduction|Rho protein signal transduction	cytosol|plasma membrane	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(8)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425)		Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644)		ACCACAGCTTCCTGGAGAAGA	0.612													29	33					0	0	1	0	0	T	42396179	C	T	42396179	2	4	116	1	0	0	0	0	0	0	0	1	890	854	30	2		2	ARHGEF1	19	42396179	Silent	SNP	C	TCGA-DU-7301-01A-11D-2086-08		42396179	16732804	38	20832											
MEGF8	1954	broad.mit.edu	37	19	42857651	42857651	+	Silent	SNP	G	G	A			TCGA-DU-7301-01A-11D-2086-08	TCGA-DU-7301-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8	536cb58b-852c-491a-94f7-ffbea4c98871	g.chr19:42857651G>A	ENST00000334370.4	+	20	4019	c.3384G>A	c.(3382-3384)cgG>cgA	p.R1128R	MEGF8_ENST00000251268.6_Silent_p.R1195R	NM_001410.2	NP_001401.2	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	1195						integral to membrane	calcium ion binding|structural molecule activity			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				AACGATGCCGGCCCGGCAGCT	0.682													5	29					0	0	1	0	0	A	42857651	G	A	42857651	2	1	116	1	0	0	0	0	0	0	0	1	9513	1190	42	2		2	MEGF8	19	42857651	Silent	SNP	G	TCGA-DU-7301-01A-11D-2086-08	461472	42857651	16271332	39	20833											
TMC4	147798	broad.mit.edu	37	19	54672374	54672376	+	In_Frame_Del	DEL	AGA	AGA	-	rs143105109		TCGA-DU-7301-01A-11D-2086-08	TCGA-DU-7301-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8	536cb58b-852c-491a-94f7-ffbea4c98871	g.chr19:54672374_54672376delAGA	ENST00000376591.4	-	4	622_624	c.491_493delTCT	c.(490-495)ttctcc>tcc	p.F164del	TMC4_ENST00000476013.2_5'UTR|TMC4_ENST00000301187.4_In_Frame_Del_p.F158del	NM_001145303.1|NM_144686.2	NP_001138775|NP_653287.2	Q7Z404	TMC4_HUMAN	transmembrane channel-like 4	164						integral to membrane				breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	22	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					CGCAGCAGGGAGAAGTAGGACTC	0.67											OREG0025670	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	0	---	---	---	---						-	54672376	AGA	-	54672374	7	5	116	1	0	1	0	1	0	0	0	0	16047	304	11	0	1693	0	TMC4	19	54672374	In_Frame_Del	DEL	AGA	TCGA-DU-7301-01A-11D-2086-08	11814723	54672374	4456609	40	20834											
DHX35	60625	broad.mit.edu	37	20	37591029	37591029	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DU-7301-01A-11D-2086-08	TCGA-DU-7301-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8	536cb58b-852c-491a-94f7-ffbea4c98871	g.chr20:37591029delC	ENST00000252011.3	+	1	52	c.19delC	c.(19-21)ccgfs	p.P7fs	DHX35_ENST00000373325.2_Frame_Shift_Del_p.P7fs|DHX35_ENST00000373323.4_Frame_Shift_Del_p.P7fs	NM_021931.3	NP_068750.2	Q9H5Z1	DHX35_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 35	7						catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	40		Myeloproliferative disorder(115;0.00878)				GCCCGTGGGACCGGTGAAGTT	0.721													16	14	---	---	---	---						-	37591029	C	-	37591029	7	5	116	1	0	1	0	1	0	0	0	0	4536	507	18	0	21	0	DHX35	20	37591029	Frame_Shift_Del	DEL	C	TCGA-DU-7301-01A-11D-2086-08		37591029	25434491	41	20835											
SAMSN1	64092	broad.mit.edu	37	21	15893493	15893493	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-7301-01A-11D-2086-08	TCGA-DU-7301-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8	536cb58b-852c-491a-94f7-ffbea4c98871	g.chr21:15893493G>T	ENST00000285670.2	-	3	485	c.311C>A	c.(310-312)tCa>tAa	p.S104*	SAMSN1_ENST00000400566.1_Nonsense_Mutation_p.S36*|SAMSN1_ENST00000400564.1_Intron	NM_001256370.1	NP_001243299.1	Q9NSI8	SAMN1_HUMAN	SAM domain, SH3 domain and nuclear localization signals 1	36					negative regulation of adaptive immune response|negative regulation of B cell activation|negative regulation of peptidyl-tyrosine phosphorylation	cytoplasm|nucleus|ruffle	phosphotyrosine binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	24				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164)		ATCTGGTTTTGATAAAGAATT	0.299													3	51					1	1	1	1	0	T	15893493	G	T	15893493	4	4	116	1	0	0	0	0	0	1	0	0	13882	1294	45	5	1042	5	SAMSN1	21	15893493	Nonsense_Mutation	SNP	G	TCGA-DU-7301-01A-11D-2086-08		15893493	32236402	42	20836											
CHEK2	11200	broad.mit.edu	37	22	29090043	29090043	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7301-01A-11D-2086-08	TCGA-DU-7301-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8	536cb58b-852c-491a-94f7-ffbea4c98871	g.chr22:29090043C>T	ENST00000544772.1	-	14	2211	c.775G>A	c.(775-777)Gcc>Acc	p.A259T	CHEK2_ENST00000328354.6_Missense_Mutation_p.A480T|CHEK2_ENST00000402731.1_Missense_Mutation_p.A451T|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000403642.1_Missense_Mutation_p.A389T|CHEK2_ENST00000382580.2_Missense_Mutation_p.A523T|CHEK2_ENST00000382578.1_Missense_Mutation_p.A389T|CHEK2_ENST00000405598.1_Missense_Mutation_p.A480T|CHEK2_ENST00000404276.1_Missense_Mutation_p.A480T|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000348295.3_Missense_Mutation_p.A451T	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN	checkpoint kinase 2	480	Protein kinase.				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						TGTCTTAAGGCTTCTTCTGTC	0.488			F			breast		Direct reversal of damage;Other conserved DNA damage response genes					97	131					0	0	1	0	0	T	29090043	C	T	29090043	3	4	116	1	0	0	0	0	1	0	0	0	3357	797	28	2	205	2	CHEK2	22	29090043	Missense_Mutation	SNP	C	TCGA-DU-7301-01A-11D-2086-08		29090043	22214523	43	20837											
MAPK12	6300	broad.mit.edu	37	22	50693717	50693717	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-7301-01A-11D-2086-08	TCGA-DU-7301-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8	536cb58b-852c-491a-94f7-ffbea4c98871	g.chr22:50693717G>C	ENST00000215659.8	-	11	1248	c.933C>G	c.(931-933)ttC>ttG	p.F311L	MAPK12_ENST00000395780.1_Missense_Mutation_p.F221L|MAPK12_ENST00000497036.1_5'UTR	NM_002969.3	NP_002960.2	P53778	MK12_HUMAN	mitogen-activated protein kinase 12	311	Protein kinase.				cell cycle arrest|DNA damage induced protein phosphorylation|muscle organ development|myoblast differentiation|nerve growth factor receptor signaling pathway|positive regulation of muscle cell differentiation|Ras protein signal transduction	mitochondrion|nucleoplasm	ATP binding|magnesium ion binding|MAP kinase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)	8		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GCAGGGACTCGAAGTAGGGAT	0.612													60	66					0	0	1	0	0	C	50693717	G	C	50693717	3	2	116	1	0	0	0	0	1	0	0	0	9324	1049	37	5	178	5	MAPK12	22	50693717	Missense_Mutation	SNP	G	TCGA-DU-7301-01A-11D-2086-08	21603674	50693717	610849	44	20838											
ATRX	546	broad.mit.edu	37	X	76938271	76938272	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-DU-7301-01A-11D-2086-08	TCGA-DU-7301-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8	536cb58b-852c-491a-94f7-ffbea4c98871	g.chrX:76938271_76938272delTT	ENST00000373344.5	-	9	2690_2691	c.2476_2477delAA	c.(2476-2478)aagfs	p.K826fs	ATRX_ENST00000395603.3_Frame_Shift_Del_p.K788fs|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	826					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)	actcatgctctttatctctttt	0.337			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						64	14	---	---	---	---						-	76938272	TT	-	76938271	7	5	116	1	0	1	0	1	0	0	0	0	1206	1609	56	0	5109	0	ATRX	23	76938271	Frame_Shift_Del	DEL	TT	TCGA-DU-7301-01A-11D-2086-08		76938271	78332289	45	20839											
HSPG2	3339	broad.mit.edu	37	1	22198783	22198783	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr1:22198783C>T	ENST00000374695.3	-	33	4196	c.4117G>A	c.(4117-4119)Gtg>Atg	p.V1373M		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	1373	Laminin IV type A 3.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	ACGGGTTCCACAGTGAATTCT	0.592													2	1					0	0	1	0	0	T	22198783	C	T	22198783	3	4	117	1	0	0	0	0	1	0	0	0	7474	478	17	2	9318	2	HSPG2	1	22198783	Missense_Mutation	SNP	C	TCGA-DU-7302-01A-11D-2086-08		22198783	227051838	1	20840											
FASLG	356	broad.mit.edu	37	1	172628634	172628634	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr1:172628634G>T	ENST00000367721.2	+	1	477	c.293G>T	c.(292-294)gGc>gTc	p.G98V	FASLG_ENST00000340030.3_Missense_Mutation_p.G98V	NM_000639.1	NP_000630.1	P48023	TNFL6_HUMAN	Fas ligand (TNF superfamily, member 6)	98					activation of caspase activity|activation of pro-apoptotic gene products|cell-cell signaling|immune response|induction of necroptosis by extracellular signals|induction of necroptosis of activated-T cells|necrotic cell death|negative regulation of angiogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|signal transduction	extracellular space|integral to plasma membrane	cytokine activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|skin(1)	19						GTAGGATTGGGCCTGGGGATG	0.572													5	41					0.014758	0.0162338	1	1	0	T	172628634	G	T	172628634	3	4	117	1	0	0	0	0	1	0	0	0	5715	1203	42	5	295	5	FASLG	1	172628634	Missense_Mutation	SNP	G	TCGA-DU-7302-01A-11D-2086-08	150429851	172628634	76621987	2	20841											
APOB	338	broad.mit.edu	37	2	21227213	21227213	+	Silent	SNP	G	G	A			TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr2:21227213G>A	ENST00000233242.1	-	28	12142	c.12015C>T	c.(12013-12015)gcC>gcT	p.A4005A		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	4005					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	CGGTGCCTACGGCTGGGGAGG	0.507													37	38					0	0	1	0	0	A	21227213	G	A	21227213	2	1	117	1	0	0	0	0	0	0	0	1	782	1103	39	1		1	APOB	2	21227213	Silent	SNP	G	TCGA-DU-7302-01A-11D-2086-08		21227213	221972160	3	20842											
ADCY3	109	broad.mit.edu	37	2	25062839	25062839	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr2:25062839C>T	ENST00000260600.5	-	6	2109	c.1258G>A	c.(1258-1260)Gtg>Atg	p.V420M	ADCY3_ENST00000405392.1_Missense_Mutation_p.V31M	NM_004036.3	NP_004027.2	O60266	ADCY3_HUMAN	adenylate cyclase 3	420					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|sensory perception of smell|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to plasma membrane	ATP binding|calmodulin binding|metal ion binding	p.V420M(1)		NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					CCCCCCAGCACGGTGCCCGTG	0.642													16	106					0	0	1	0	0	T	25062839	C	T	25062839	3	4	117	1	0	0	0	0	1	0	0	0	294	536	19	1	2240	1	ADCY3	2	25062839	Missense_Mutation	SNP	C	TCGA-DU-7302-01A-11D-2086-08	3835626	25062839	218136534	4	20843											
TRIM54	57159	broad.mit.edu	37	2	27522276	27522276	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr2:27522276C>T	ENST00000296098.4	+	3	775	c.505C>T	c.(505-507)Cgc>Tgc	p.R169C	TRIM54_ENST00000380075.2_Missense_Mutation_p.R169C	NM_032546.3	NP_115935.3	Q9BYV2	TRI54_HUMAN	tripartite motif containing 54	169	Mediates microtubule-binding and homooligomerization (By similarity).				cell differentiation|microtubule-based process|multicellular organismal development|negative regulation of microtubule depolymerization	microtubule|sarcomere	signal transducer activity|zinc ion binding			cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CATTTACAAACGCCAGAAGGT	0.522													13	21					0	0	1	0	0	T	27522276	C	T	27522276	3	4	117	1	0	0	0	0	1	0	0	0	16589	536	19	1	515	1	TRIM54	2	27522276	Missense_Mutation	SNP	C	TCGA-DU-7302-01A-11D-2086-08	2459437	27522276	215677097	5	20844											
BRE	9577	broad.mit.edu	37	2	28210865	28210865	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr2:28210865delA	ENST00000344773.2	+	4	349	c.211delA	c.(211-213)atcfs	p.I72fs	BRE_ENST00000361704.2_Frame_Shift_Del_p.I72fs|BRE_ENST00000603461.1_3'UTR|BRE_ENST00000342045.2_Frame_Shift_Del_p.I72fs|BRE_ENST00000379624.1_Frame_Shift_Del_p.I72fs|BRE_ENST00000379632.2_Frame_Shift_Del_p.I72fs	NM_004899.4	NP_004890.2	Q9NXR7	BRE_HUMAN	brain and reproductive organ-expressed (TNFRSF1A modulator)	72	UEV-like 1.				apoptosis|chromatin modification|double-strand break repair|G2/M transition DNA damage checkpoint|positive regulation of anti-apoptosis|positive regulation of DNA repair|response to ionizing radiation|signal transduction	BRCA1-A complex|BRISC complex|cytoplasm|nuclear ubiquitin ligase complex	peroxisome targeting sequence binding|polyubiquitin binding|tumor necrosis factor receptor binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(2)	23	Acute lymphoblastic leukemia(172;0.155)					TTCAGGGGATATCATTTTCAA	0.378													12	237	---	---	---	---						-	28210865	A	-	28210865	7	5	117	1	0	1	0	1	0	0	0	0	1511	449	16	0	221	0	BRE	2	28210865	Frame_Shift_Del	DEL	A	TCGA-DU-7302-01A-11D-2086-08	688589	28210865	214988508	6	20845											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								33	56					0	0	1	0	0	T	209113112	C	T	209113112	3	4	117	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-DU-7302-01A-11D-2086-08	180902247	209113112	34086261	7	20846											
GBX2	2637	broad.mit.edu	37	2	237076427	237076429	+	In_Frame_Del	DEL	GGC	GGC	-			TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr2:237076427_237076429delGGC	ENST00000306318.4	-	1	583_585	c.186_188delGCC	c.(184-189)ccgccc>ccc	p.62_63PP>P	AC079135.1_ENST00000415226.1_RNA|GBX2_ENST00000551105.1_In_Frame_Del_p.62_63PP>P|AC079135.1_ENST00000483218.1_RNA	NM_001485.2	NP_001476.2	P52951	GBX2_HUMAN	gastrulation brain homeobox 2	62	Poly-Pro.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7		Breast(86;0.00235)|Renal(207;0.00339)|all_hematologic(139;0.00357)|all_lung(227;0.0616)|Acute lymphoblastic leukemia(138;0.0775)|Ovarian(221;0.089)|Lung NSC(271;0.179)		Epithelial(121;4.5e-25)|OV - Ovarian serous cystadenocarcinoma(60;5.16e-11)|BRCA - Breast invasive adenocarcinoma(100;3.4e-05)|Lung(119;0.00195)|LUSC - Lung squamous cell carcinoma(224;0.00471)		GGGCAGCGCGggcggcggcggcg	0.754													2	4	---	---	---	---						-	237076429	GGC	-	237076427	7	5	117	1	0	1	0	1	0	0	0	0	6321	1232	43	0	866	0	GBX2	2	237076427	In_Frame_Del	DEL	GGC	TCGA-DU-7302-01A-11D-2086-08	27963315	237076427	6122946	8	20847											
FLNB	2317	broad.mit.edu	37	3	58095050	58095050	+	Splice_Site	SNP	G	G	C			TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr3:58095050G>C	ENST00000357272.4	+	14	2364		c.e14+1		FLNB_ENST00000490882.1_Splice_Site|FLNB_ENST00000419752.2_Splice_Site|FLNB_ENST00000493452.1_Splice_Site|FLNB_ENST00000358537.3_Splice_Site|FLNB_ENST00000295956.4_Splice_Site|FLNB_ENST00000348383.5_Splice_Site|FLNB_ENST00000429972.2_Splice_Site			O75369	FLNB_HUMAN	filamin B, beta						actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		CCCCTACAGGGTAGGTTGTGA	0.552													7	13					0	0	1	0	0	C	58095050	G	C	58095050	5	2	117	1	0	0	0	0	0	0	1	0	5967	1275	44	5	2254	5	FLNB	3	58095050	Splice_Site	SNP	G	TCGA-DU-7302-01A-11D-2086-08		58095050	139927380	9	20848											
TIMD4	91937	broad.mit.edu	37	5	156378778	156378778	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr5:156378778C>T	ENST00000274532.2	-	3	480	c.424G>A	c.(424-426)Gca>Aca	p.A142T	TIMD4_ENST00000407087.3_Missense_Mutation_p.A142T	NM_138379.2	NP_612388.2	Q96H15	TIMD4_HUMAN	T-cell immunoglobulin and mucin domain containing 4	142	Thr-rich.					integral to membrane				NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2)	37	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GTGGTGGTTGCTGTTCTGTGC	0.502													15	401					0	0	1	0	0	T	156378778	C	T	156378778	3	4	117	1	0	0	0	0	1	0	0	0	15963	797	28	2	740	2	TIMD4	5	156378778	Missense_Mutation	SNP	C	TCGA-DU-7302-01A-11D-2086-08		156378778	24536482	10	20849											
JARID2	3720	broad.mit.edu	37	6	15504753	15504755	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr6:15504753_15504755delCTT	ENST00000341776.2	+	9	2715_2717	c.2471_2473delCTT	c.(2470-2475)actttt>att	p.824_825TF>I	JARID2_ENST00000474854.1_3'UTR|JARID2_ENST00000397311.3_In_Frame_Del_p.652_653TF>I|JARID2_ENST00000541660.1_In_Frame_Del_p.786_787TF>I	NM_004973.3	NP_004964.2	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2	824					central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent		chromatin binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				TCTCTAACAACTTTTTATCGAAC	0.483													11	70	---	---	---	---						-	15504755	CTT	-	15504753	7	5	117	1	0	1	0	1	0	0	0	0	7989	565	20	0	2505	0	JARID2	6	15504753	In_Frame_Del	DEL	CTT	TCGA-DU-7302-01A-11D-2086-08		15504753	155610314	11	20850											
ZNF292	23036	broad.mit.edu	37	6	87965943	87965944	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr6:87965943_87965944delGA	ENST00000369577.3	+	8	2639_2640	c.2596_2597delGA	c.(2596-2598)gagfs	p.E866fs	ZNF292_ENST00000339907.4_Frame_Shift_Del_p.E861fs	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	866					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		AGAGAATATTGAGAAAGAAAGA	0.401													7	54	---	---	---	---						-	87965944	GA	-	87965943	7	5	117	1	0	1	0	1	0	0	0	0	17883	1291	45	0	2626	0	ZNF292	6	87965943	Frame_Shift_Del	DEL	GA	TCGA-DU-7302-01A-11D-2086-08	72461190	87965943	83149124	12	20851											
ZNF292	23036	broad.mit.edu	37	6	87966376	87966377	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr6:87966376_87966377delCT	ENST00000369577.3	+	8	3072_3073	c.3029_3030delCT	c.(3028-3030)actfs	p.T1010fs	ZNF292_ENST00000339907.4_Frame_Shift_Del_p.T1005fs	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	1010					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		AATTCAGAAACTCTCAAAATAG	0.356													11	29	---	---	---	---						-	87966377	CT	-	87966376	7	5	117	1	0	1	0	1	0	0	0	0	17883	565	20	0	3059	0	ZNF292	6	87966376	Frame_Shift_Del	DEL	CT	TCGA-DU-7302-01A-11D-2086-08	433	87966376	83148691	13	20852											
SPDYE1	285955	broad.mit.edu	37	7	44042300	44042301	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr7:44042300_44042301delCT	ENST00000258704.3	+	2	508_509	c.371_372delCT	c.(370-372)cctfs	p.P124fs	RP5-1165K10.2_ENST00000454572.1_RNA|POLR2J4_ENST00000427076.1_RNA	NM_001099435.2|NM_175064.2	NP_001092905.2|NP_778234.2	Q8NFV5	SPDE1_HUMAN	speedy/RINGO cell cycle regulator family member E1	124										endometrium(1)|kidney(4)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	11						GTGCTCGCCCCTGAGCCTGAGG	0.614													19	25	---	---	---	---						-	44042301	CT	-	44042300	7	5	117	1	0	1	0	1	0	0	0	0	15085	681	24	0	377	0	SPDYE1	7	44042300	Frame_Shift_Del	DEL	CT	TCGA-DU-7302-01A-11D-2086-08		44042300	115096363	14	20853											
SUMF2	25870	broad.mit.edu	37	7	56145816	56145816	+	Nonsense_Mutation	SNP	A	A	T			TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr7:56145816A>T	ENST00000434526.2	+	7	701	c.670A>T	c.(670-672)Aaa>Taa	p.K224*	SUMF2_ENST00000275607.9_Nonsense_Mutation_p.K117*|SUMF2_ENST00000413756.1_Nonsense_Mutation_p.K205*|SUMF2_ENST00000437307.2_Nonsense_Mutation_p.K136*|SUMF2_ENST00000395435.2_Nonsense_Mutation_p.K140*|SUMF2_ENST00000395436.2_Nonsense_Mutation_p.K209*|SUMF2_ENST00000342190.6_Nonsense_Mutation_p.K224*	NM_001042469.1|NM_015411.2	NP_001035934.2|NP_056226	Q8NBJ7	SUMF2_HUMAN	sulfatase modifying factor 2	205						endoplasmic reticulum lumen	metal ion binding			breast(2)|endometrium(2)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	14	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			CAAGGGAGACAAAGCTGAGGA	0.532													16	117					0	0	1	0	0	T	56145816	A	T	56145816	4	4	117	1	0	0	0	0	0	1	0	0	15442	131	5	5	696	5	SUMF2	7	56145816	Nonsense_Mutation	SNP	A	TCGA-DU-7302-01A-11D-2086-08	12103516	56145816	102992847	15	20854											
ASL	435	broad.mit.edu	37	7	65554152	65554155	+	Frame_Shift_Del	DEL	TGTT	TGTT	-			TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr7:65554152_65554155delTGTT	ENST00000304874.9	+	12	1010_1013	c.908_911delTGTT	c.(907-912)gtgtttfs	p.VF303fs	ASL_ENST00000395332.3_Frame_Shift_Del_p.VF303fs|ASL_ENST00000395331.3_Frame_Shift_Del_p.VF303fs|ASL_ENST00000380839.4_Frame_Shift_Del_p.VF277fs|AC068533.7_ENST00000450043.1_Frame_Shift_Del_p.CV71fs	NM_000048.3	NP_000039.2	P04424	ARLY_HUMAN	argininosuccinate lyase	303					arginine biosynthetic process via ornithine|arginine catabolic process|urea cycle	cytosol	argininosuccinate lyase activity			breast(3)|endometrium(3)|large_intestine(2)|lung(9)|upper_aerodigestive_tract(1)	18					L-Arginine(DB00125)	GCTGGGCGTGTGTTTGGGCGGGTG	0.672													10	88	---	---	---	---						-	65554155	TGTT	-	65554152	7	5	117	1	0	1	0	1	0	0	0	0	1043	1696	59	0	950	0	ASL	7	65554152	Frame_Shift_Del	DEL	TGTT	TCGA-DU-7302-01A-11D-2086-08	9408336	65554152	93584511	16	20855											
GNAI1	2770	broad.mit.edu	37	7	79846804	79846805	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr7:79846804_79846805delTT	ENST00000351004.3	+	8	1433_1434	c.1060_1061delTT	c.(1060-1062)tttfs	p.F354fs	GNAI1_ENST00000457358.2_Frame_Shift_Del_p.F302fs	NM_002069.5	NP_002060.4	P63096	GNAI1_HUMAN	guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 1	354					cell cycle|cell division|inhibition of adenylate cyclase activity by G-protein signaling pathway|platelet activation|synaptic transmission	centrosome|heterotrimeric G-protein complex|midbody|nucleus	G-protein beta/gamma-subunit complex binding|GTP binding|metabotropic serotonin receptor binding|signal transducer activity			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	19						TTGTGGTCTCTTTTAAGTTTTG	0.342													13	28	---	---	---	---						-	79846805	TT	-	79846804	7	5	117	1	0	1	0	1	0	0	0	0	6546	1609	56	0	1090	0	GNAI1	7	79846804	Frame_Shift_Del	DEL	TT	TCGA-DU-7302-01A-11D-2086-08	14292652	79846804	79291859	17	20856											
CLU	1191	broad.mit.edu	37	8	27466456	27466459	+	Splice_Site	DEL	TCTT	TCTT	-			TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr8:27466456_27466459delTCTT	ENST00000316403.10	-	3	647_650	c.242_245delAAGA	c.(241-246)aaagag>ag	p.KE81fs	CLU_ENST00000405140.3_Splice_Site_p.KE81fs|CLU_ENST00000560366.1_Splice_Site_p.KE133fs|CLU_ENST00000546343.1_Splice_Site_p.KE92fs|CLU_ENST00000523500.1_Splice_Site_p.KE81fs			P10909	CLUS_HUMAN	clusterin	81					chaperone-mediated protein folding|complement activation, classical pathway|innate immune response|lipid metabolic process|negative regulation of apoptosis|negative regulation of protein homooligomerization|platelet activation|platelet degranulation|positive regulation of NF-kappaB transcription factor activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|response to misfolded protein|response to virus|reverse cholesterol transport	chromaffin granule|cytosol|endoplasmic reticulum|microsome|mitochondrial membrane|nucleus|perinuclear region of cytoplasm|platelet alpha granule lumen|spherical high-density lipoprotein particle	misfolded protein binding|ubiquitin protein ligase binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)	21		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|Colorectal(74;0.132)		CCTCCTGACCTCTTTCTTCTTCTT	0.559													7	151	---	---	---	---						-	27466459	TCTT	-	27466456	8	5	117	1	0	1	0	1	0	0	1	0	3591	1565	54	0	1132	0	CLU	8	27466456	Splice_Site	DEL	TCTT	TCGA-DU-7302-01A-11D-2086-08		27466456	118897566	18	20857											
NOTCH1	4851	broad.mit.edu	37	9	139413070	139413072	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr9:139413070_139413072delAGA	ENST00000277541.6	-	6	1145_1147	c.1070_1072delTCT	c.(1069-1074)ttctac>tac	p.F357del		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	357	EGF-like 9; calcium-binding (Potential).				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	p.F357delF(4)		breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CACTCGCAGTAGAAGGAGGCCAC	0.655			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			10	20	---	---	---	---						-	139413072	AGA	-	139413070	7	5	117	1	0	1	0	1	0	0	0	0	10594	420	15	0	6711	0	NOTCH1	9	139413070	In_Frame_Del	DEL	AGA	TCGA-DU-7302-01A-11D-2086-08		139413070	1800361	19	20858											
LRRC18	474354	broad.mit.edu	37	10	50122058	50122058	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr10:50122058C>T	ENST00000374160.3	-	1	219	c.143G>A	c.(142-144)cGc>cAc	p.R48H	RP11-523O18.7_ENST00000430438.1_RNA|WDFY4_ENST00000325239.5_Intron|WDFY4_ENST00000413659.2_Intron|LRRC18_ENST00000298124.3_Missense_Mutation_p.R48H	NM_001006939.3	NP_001006940.3	Q8N456	LRC18_HUMAN	leucine rich repeat containing 18	48						cytoplasm				NS(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	18						GTCACTAAGGCGCAGAATACA	0.507													23	42					0	0	1	0	0	T	50122058	C	T	50122058	3	4	117	1	0	0	0	0	1	0	0	0	9019	768	27	1	650	1	LRRC18	10	50122058	Missense_Mutation	SNP	C	TCGA-DU-7302-01A-11D-2086-08		50122058	85412689	20	20859											
CDH23	64072	broad.mit.edu	37	10	73544798	73544798	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr10:73544798C>T	ENST00000224721.6	+	42	5673	c.5668C>T	c.(5668-5670)Cgc>Tgc	p.R1890C		NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	1885	Cadherin 18.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						CTGCAATGCACGCCTCACCTT	0.602													10	105					0	0	1	0	0	T	73544798	C	T	73544798	3	4	117	1	0	0	0	0	1	0	0	0	3130	536	19	1	6164	1	CDH23	10	73544798	Missense_Mutation	SNP	C	TCGA-DU-7302-01A-11D-2086-08	23422740	73544798	61989949	21	20860											
GLUD1	2746	broad.mit.edu	37	10	88819949	88819949	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr10:88819949A>C	ENST00000277865.4	-	9	1343	c.1247T>G	c.(1246-1248)aTc>aGc	p.I416S	GLUD1_ENST00000544149.1_Missense_Mutation_p.I283S|GLUD1_ENST00000537649.1_Missense_Mutation_p.I249S	NM_005271.3	NP_005262.1	P00367	DHE3_HUMAN	glutamate dehydrogenase 1	416					glutamate biosynthetic process|glutamate catabolic process|positive regulation of insulin secretion	mitochondrial matrix	ADP binding|ATP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|identical protein binding|leucine binding|NAD+ binding			endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(11)|prostate(1)	22					L-Glutamic Acid(DB00142)|NADH(DB00157)	CTCCAGGAAGATCTTGTCAGC	0.398													7	157					0	0	1	0	0	C	88819949	A	C	88819949	3	2	117	1	0	0	0	0	1	0	0	0	6518	333	12	4	449	4	GLUD1	10	88819949	Missense_Mutation	SNP	A	TCGA-DU-7302-01A-11D-2086-08	15275151	88819949	46714798	22	20861											
CNNM2	54805	broad.mit.edu	37	10	104809481	104809481	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr10:104809481A>G	ENST00000369878.4	+	2	1827	c.1639A>G	c.(1639-1641)Atc>Gtc	p.I547V	CNNM2_ENST00000433628.2_Missense_Mutation_p.I547V	NM_017649.4	NP_060119.3	Q9H8M5	CNNM2_HUMAN	cyclin M2		CBS 2.				ion transport	integral to membrane				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1)	19		Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198)		Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		TCACCTGGCTATCGTGCAGCG	0.378													7	128					0	0	1	0	0	G	104809481	A	G	104809481	3	3	117	1	0	0	0	0	1	0	0	0	3636	449	16	3	1687	3	CNNM2	10	104809481	Missense_Mutation	SNP	A	TCGA-DU-7302-01A-11D-2086-08	15989532	104809481	30725266	23	20862											
ANO9	338440	broad.mit.edu	37	11	418481	418483	+	In_Frame_Del	DEL	TCT	TCT	-			TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr11:418481_418483delTCT	ENST00000332826.6	-	23	2321_2323	c.2237_2239delAGA	c.(2236-2241)aagatg>atg	p.K746del		NM_001012302.2	NP_001012302	A1A5B4	ANO9_HUMAN	anoctamin 9	746						chloride channel complex	chloride channel activity			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|lung(5)|ovary(1)|prostate(4)|skin(4)	21						CCATGCCACATCTTCTCACGCAG	0.621													51	105	---	---	---	---						-	418483	TCT	-	418481	7	5	117	1	0	1	0	1	0	0	0	0	698	1435	50	0	113	0	ANO9	11	418481	In_Frame_Del	DEL	TCT	TCGA-DU-7302-01A-11D-2086-08		418481	134588035	24	20863											
NDUFS3	4722	broad.mit.edu	37	11	47603920	47603922	+	In_Frame_Del	DEL	TCT	TCT	-			TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr11:47603920_47603922delTCT	ENST00000263774.4	+	6	609_611	c.527_529delTCT	c.(526-531)gtcttc>gtc	p.F178del	NDUFS3_ENST00000533507.1_3'UTR	NM_004551.2	NP_004542.1	O75489	NDUS3_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 3, 30kDa (NADH-coenzyme Q reductase)	178					induction of apoptosis|mitochondrial electron transport, NADH to ubiquinone|negative regulation of cell growth|reactive oxygen species metabolic process|transport	mitochondrial respiratory chain complex I	electron carrier activity|NADH dehydrogenase (ubiquinone) activity|protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)	9					NADH(DB00157)	ATGTTTGGAGTCTTCTTTGCTAA	0.483													38	365	---	---	---	---						-	47603922	TCT	-	47603920	7	5	117	1	0	1	0	1	0	0	0	0	10340	1667	58	0	549	0	NDUFS3	11	47603920	In_Frame_Del	DEL	TCT	TCGA-DU-7302-01A-11D-2086-08	47185439	47603920	87402596	25	20864											
SNX32	254122	broad.mit.edu	37	11	65618541	65618543	+	In_Frame_Del	DEL	TTT	TTT	-			TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr11:65618541_65618543delTTT	ENST00000308342.6	+	7	1044_1046	c.619_621delTTT	c.(619-621)tttdel	p.F207del		NM_152760.2	NP_689973.2	Q86XE0	SNX32_HUMAN	sorting nexin 32	207					cell communication|protein transport		phosphatidylinositol binding			endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				READ - Rectum adenocarcinoma(159;0.171)		GGATGACTTCTTTGAGCATGAGA	0.596													14	228	---	---	---	---						-	65618543	TTT	-	65618541	7	5	117	1	0	1	0	1	0	0	0	0	14956	1609	56	0	645	0	SNX32	11	65618541	In_Frame_Del	DEL	TTT	TCGA-DU-7302-01A-11D-2086-08	18014621	65618541	69387975	26	20865											
CREBZF	58487	broad.mit.edu	37	11	85375242	85375244	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr11:85375242_85375244delCTT	ENST00000527447.1	-	1	902_904	c.676_678delAAG	c.(676-678)aagdel	p.K226del	CREBZF_ENST00000398294.2_In_Frame_Del_p.K144del|CREBZF_ENST00000534224.1_Intron|CREBZF_ENST00000531515.1_Intron	NM_001039618.2	NP_001034707.1	Q9NS37	ZHANG_HUMAN	CREB/ATF bZIP transcription factor	226					negative regulation of gene expression, epigenetic|negative regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|response to virus	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.K226delK(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	9		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)				TCACGTACTCCTTCTTCTTCAGT	0.665											OREG0021274	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	173	---	---	---	---						-	85375244	CTT	-	85375242	7	5	117	1	0	1	0	1	0	0	0	0	3886	680	24	0	390	0	CREBZF	11	85375242	In_Frame_Del	DEL	CTT	TCGA-DU-7302-01A-11D-2086-08	19756701	85375242	49631274	27	20866											
CCDC89	220388	broad.mit.edu	37	11	85397064	85397064	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr11:85397064G>A	ENST00000316398.3	-	1	256	c.110C>T	c.(109-111)aCg>aTg	p.T37M		NM_152723.1	NP_689936.1	Q8N998	CCD89_HUMAN	coiled-coil domain containing 89	37						cytoplasm|nucleus				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	15		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)				CTTAAACTCCGTCTCCTCTTC	0.552													5	57					0	0	1	0	0	A	85397064	G	A	85397064	3	1	117	1	0	0	0	0	1	0	0	0	2886	1145	40	1	1018	1	CCDC89	11	85397064	Missense_Mutation	SNP	G	TCGA-DU-7302-01A-11D-2086-08	21822	85397064	49609452	28	20867											
RBM7	10179	broad.mit.edu	37	11	114278270	114278273	+	Frame_Shift_Del	DEL	TCAA	TCAA	-			TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr11:114278270_114278273delTCAA	ENST00000540163.1	+	5	1184_1187	c.542_545delTCAA	c.(541-546)ttcaatfs	p.FN181fs	RBM7_ENST00000544582.1_Intron|RBM7_ENST00000541475.1_3'UTR|RP11-212D19.4_ENST00000544347.1_Intron|RBM7_ENST00000545678.1_Frame_Shift_Del_p.FN61fs|RBM7_ENST00000375490.5_Frame_Shift_Del_p.FN182fs			Q9Y580	RBM7_HUMAN	RNA binding motif protein 7	181					meiosis		nucleotide binding|protein binding|RNA binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17		all_cancers(61;5.06e-12)|all_epithelial(67;5.3e-06)|all_hematologic(158;7.68e-05)|Acute lymphoblastic leukemia(157;0.000966)|Melanoma(852;0.00153)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Breast(348;0.0818)|Prostate(24;0.104)		BRCA - Breast invasive adenocarcinoma(274;2.56e-06)|Epithelial(105;4.17e-05)|all cancers(92;0.000348)		AGTCATAGTTTCAATCAGTCTTCA	0.422													12	201	---	---	---	---						-	114278273	TCAA	-	114278270	7	5	117	1	0	1	0	1	0	0	0	0	13197	1783	62	0	560	0	RBM7	11	114278270	Frame_Shift_Del	DEL	TCAA	TCGA-DU-7302-01A-11D-2086-08	28881206	114278270	20728246	29	20868											
KCNJ1	3758	broad.mit.edu	37	11	128710111	128710111	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr11:128710111C>T	ENST00000392665.2	-	2	172	c.28G>A	c.(28-30)Gtc>Atc	p.V10I	KCNJ1_ENST00000392664.2_Missense_Mutation_p.V29I|KCNJ1_ENST00000392666.1_Missense_Mutation_p.V10I|KCNJ1_ENST00000324036.3_Missense_Mutation_p.V10I|KCNJ1_ENST00000440599.2_Missense_Mutation_p.V10I	NM_153764.2	NP_722448.1	P48048	IRK1_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 1	29					excretion	voltage-gated potassium channel complex	ATP binding|inward rectifier potassium channel activity			breast(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)	23	all_hematologic(175;0.0641)	all_lung(97;4.89e-06)|Lung NSC(97;9.34e-06)|Breast(109;0.00123)|all_hematologic(192;0.00793)|Renal(330;0.0112)|all_neural(223;0.0189)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;4.05e-06)|LUSC - Lung squamous cell carcinoma(976;0.008)|Lung(977;0.00942)	Acetohexamide(DB00414)|Chlorpropamide(DB00672)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Glycodiazine(DB01382)|Minoxidil(DB00350)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolazamide(DB00839)|Tolbutamide(DB01124)	AAGCGAGTGACGACCCATTTC	0.408													9	92					0	0	1	0	0	T	128710111	C	T	128710111	3	4	117	1	0	0	0	0	1	0	0	0	8087	536	19	1	1094	1	KCNJ1	11	128710111	Missense_Mutation	SNP	C	TCGA-DU-7302-01A-11D-2086-08	14431841	128710111	6296405	30	20869											
VWF	7450	broad.mit.edu	37	12	6128787	6128787	+	Missense_Mutation	SNP	G	G	A	rs61749370		TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr12:6128787G>A	ENST00000261405.5	-	28	4051	c.3797C>T	c.(3796-3798)cCg>cTg	p.P1266L		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	1266			P -> L (in VWD2).		blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	ATCGTGCAACGGCGGTTCCGA	0.612													24	44					0	0	1	0	0	A	6128787	G	A	6128787	3	1	117	1	0	0	0	0	1	0	0	0	17306	1116	39	1	4744	1	VWF	12	6128787	Missense_Mutation	SNP	G	TCGA-DU-7302-01A-11D-2086-08		6128787	127723108	31	20870											
CIT	11113	broad.mit.edu	37	12	120151451	120151455	+	Splice_Site	DEL	ATTCT	ATTCT	-			TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr12:120151451_120151455delATTCT	ENST00000392521.2	-	34	4362_4364	c.4307_4309delAGAAT	c.(4306-4311)gagaat>gat	p.EN1436fs	CIT_ENST00000537607.1_5'UTR|CIT_ENST00000261833.7_Splice_Site_p.EN1394fs|MIR1178_ENST00000408396.1_RNA	NM_001206999.1	NP_001193928.1	O14578	CTRO_HUMAN	citron (rho-interacting, serine/threonine kinase 21)	1394					intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		ATCACCTGACATTCTAGGGAAGAAC	0.61													9	99	---	---	---	---						-	120151455	ATTCT	-	120151451	8	5	117	1	0	1	0	1	0	0	1	0	3461	217	8	0	1960	0	CIT	12	120151451	Splice_Site	DEL	ATTCT	TCGA-DU-7302-01A-11D-2086-08	114022664	120151451	13700444	32	20871											
GATC	283459	broad.mit.edu	37	12	120894951	120894951	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr12:120894951C>T	ENST00000551806.1	+	4	421	c.421C>T	c.(421-423)Cgt>Tgt	p.R141C	GATC_ENST00000551765.1_Silent_p.R109R																							ACTCCCATCGCGTCGTGGAGG	0.478											OREG0022192	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	29					0	0	1	0	0	T	120894951	C	T	120894951	3	4	117	1	0	0	0	0	1	0	0	0	6302	755	27	1	337	1	GATC	12	120894951	Missense_Mutation	SNP	C	TCGA-DU-7302-01A-11D-2086-08	743500	120894951	12956944	33	20872											
METTL3	56339	broad.mit.edu	37	14	21971404	21971406	+	In_Frame_Del	DEL	TTC	TTC	-			TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr14:21971404_21971406delTTC	ENST00000298717.4	-	3	784_786	c.633_635delGAA	c.(631-636)aagaaa>aaa	p.211_212KK>K	METTL3_ENST00000538267.1_In_Frame_Del_p.R140del	NM_019852.3	NP_062826.2	Q86U44	MTA70_HUMAN	methyltransferase like 3	211					gene expression	nuclear speck	mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity|RNA binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(95;0.000628)		Epithelial(56;6.61e-06)	GBM - Glioblastoma multiforme(265;0.0146)		TTTCCTTGATTTCTTGGCTGGCT	0.502													34	229	---	---	---	---						-	21971406	TTC	-	21971404	7	5	117	1	0	1	0	1	0	0	0	0	9551	1841	64	0	1143	0	METTL3	14	21971404	In_Frame_Del	DEL	TTC	TCGA-DU-7302-01A-11D-2086-08		21971404	85378136	34	20873											
TGM7	116179	broad.mit.edu	37	15	43584939	43584939	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr15:43584939G>A	ENST00000452443.2	-	3	411	c.407C>T	c.(406-408)aCt>aTt	p.T136I		NM_052955.2	NP_443187.1	Q96PF1	TGM7_HUMAN	transglutaminase 7	136					peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(2)|prostate(4)|skin(1)	39		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.14e-07)	L-Glutamine(DB00130)	TAGGATGAAAGTTCCCAGCGG	0.478													66	86					0	0	1	0	0	A	43584939	G	A	43584939	3	1	117	1	0	0	0	0	1	0	0	0	15895	1029	36	2	1769	2	TGM7	15	43584939	Missense_Mutation	SNP	G	TCGA-DU-7302-01A-11D-2086-08		43584939	58946453	35	20874											
ACSBG1	23205	broad.mit.edu	37	15	78475123	78475123	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr15:78475123C>T	ENST00000258873.4	-	6	873	c.668G>A	c.(667-669)tGg>tAg	p.W223*	ACSBG1_ENST00000541759.1_5'UTR|ACSBG1_ENST00000560817.1_5'UTR	NM_001199377.1|NM_015162.4	NP_001186306.1|NP_055977.3	Q96GR2	ACBG1_HUMAN	acyl-CoA synthetase bubblegum family member 1	223					long-chain fatty acid metabolic process|myelination|very long-chain fatty acid metabolic process	cytoplasmic membrane-bounded vesicle|endoplasmic reticulum|microsome	ATP binding|long-chain fatty acid-CoA ligase activity|very long-chain fatty acid-CoA ligase activity	p.W223S(1)|p.W223*(1)		endometrium(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	37						CAACTGTTTCCAGATCTGCAT	0.463													24	37					0	0	1	0	0	T	78475123	C	T	78475123	4	4	117	1	0	0	0	0	0	1	0	0	173	595	21	2	1542	2	ACSBG1	15	78475123	Nonsense_Mutation	SNP	C	TCGA-DU-7302-01A-11D-2086-08	34890184	78475123	24056269	36	20875											
TMEM8A	58986	broad.mit.edu	37	16	427459	427459	+	Silent	SNP	G	G	A			TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr16:427459G>A	ENST00000431232.2	-	3	586	c.426C>T	c.(424-426)tcC>tcT	p.S142S	TMEM8A_ENST00000476735.1_5'UTR|TMEM8A_ENST00000250930.3_5'UTR	NM_021259.2	NP_067082.2	Q9HCN3	TMM8A_HUMAN	transmembrane protein 8A	142					cell adhesion	integral to plasma membrane				central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	14						AAACGTTGACGGAGGCATTGC	0.677											OREG0003703	type=REGULATORY REGION|Gene=TMEM8|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	10	21					0	0	1	0	0	A	427459	G	A	427459	2	1	117	1	0	0	0	0	0	0	0	1	16274	1103	39	1		1	TMEM8A	16	427459	Silent	SNP	G	TCGA-DU-7302-01A-11D-2086-08		427459	89927294	37	20876											
CES3	23491	broad.mit.edu	37	16	66997813	66997813	+	Missense_Mutation	SNP	C	C	T	rs148620443	byFrequency	TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr16:66997813C>T	ENST00000303334.4	+	4	606	c.535C>T	c.(535-537)Cgc>Tgc	p.R179C	CES3_ENST00000394037.1_Missense_Mutation_p.R179C	NM_024922.5	NP_079198.2	Q6UWW8	EST3_HUMAN	carboxylesterase 3	179						endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	24		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0488)|Epithelial(162;0.127)		AGTCCAGTACCGCCTTGGGGT	0.607													57	59					0	0	1	0	0	T	66997813	C	T	66997813	3	4	117	1	0	0	0	0	1	0	0	0	3293	652	23	1	549	1	CES3	16	66997813	Missense_Mutation	SNP	C	TCGA-DU-7302-01A-11D-2086-08	66570354	66997813	23356940	38	20877											
MVD	4597	broad.mit.edu	37	16	88719764	88719764	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr16:88719764C>A	ENST00000301012.3	-	9	1095	c.1066G>T	c.(1066-1068)Gct>Tct	p.A356S		NM_002461.1	NP_002452.1	P53602	MVD1_HUMAN	mevalonate (diphospho) decarboxylase	356					cholesterol biosynthetic process|positive regulation of cell proliferation	cytosol	ATP binding|diphosphomevalonate decarboxylase activity|Hsp70 protein binding|kinase activity|protein homodimerization activity			endometrium(3)|large_intestine(1)|lung(7)|ovary(1)	12				BRCA - Breast invasive adenocarcinoma(80;0.0478)		GCCAGCGCAGCCTGAAGCTCA	0.617													3	35					1	1	1	1	0	A	88719764	C	A	88719764	3	1	117	1	0	0	0	0	1	0	0	0	10042	739	26	5	144	5	MVD	16	88719764	Missense_Mutation	SNP	C	TCGA-DU-7302-01A-11D-2086-08	21721951	88719764	1634989	39	20878											
MYH2	4620	broad.mit.edu	37	17	10432336	10432336	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr17:10432336C>T	ENST00000245503.5	-	27	3799	c.3415G>A	c.(3415-3417)Gag>Aag	p.E1139K	MYH2_ENST00000532183.2_Intron|MYH2_ENST00000397183.2_Missense_Mutation_p.E1139K|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1139					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						CGCTGCTTCTCTGCTTTGGCC	0.582													34	70					0	0	1	0	0	T	10432336	C	T	10432336	3	4	117	1	0	0	0	0	1	0	0	0	10083	922	32	2	2466	2	MYH2	17	10432336	Missense_Mutation	SNP	C	TCGA-DU-7302-01A-11D-2086-08		10432336	70762874	40	20879											
VAT1	10493	broad.mit.edu	37	17	41168124	41168126	+	In_Frame_Del	DEL	TTC	TTC	-			TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr17:41168124_41168126delTTC	ENST00000355653.3	-	6	1229_1231	c.1134_1136delGAA	c.(1132-1137)aagaat>aat	p.K378del	VAT1_ENST00000587173.1_In_Frame_Del_p.K310del|VAT1_ENST00000420567.3_In_Frame_Del_p.K244del	NM_006373.3	NP_006364.2	Q99536	VAT1_HUMAN	vesicle amine transport 1	378						cytoplasm|integral to membrane	oxidoreductase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|upper_aerodigestive_tract(1)	9		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.156)		CTTGCCCACATTCTTCTTCTCCT	0.557													40	474	---	---	---	---						-	41168126	TTC	-	41168124	7	5	117	1	0	1	0	1	0	0	0	0	17189	1493	52	0	49	0	VAT1	17	41168124	In_Frame_Del	DEL	TTC	TCGA-DU-7302-01A-11D-2086-08	30735788	41168124	40027086	41	20880											
RNF213	57674	broad.mit.edu	37	17	78345780	78345780	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr17:78345780C>A	ENST00000582970.1	+	47	12675	c.12532C>A	c.(12532-12534)Ctg>Atg	p.L4178M	RNF213_ENST00000508628.2_Missense_Mutation_p.L4227M|RNF213_ENST00000336301.6_Missense_Mutation_p.L2251M|CTD-2047H16.4_ENST00000575034.1_RNA|CTD-2047H16.4_ENST00000572151.1_RNA	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	0										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			CATCAACTGCCTGGAGGTAAG	0.308													3	32					1	1	1	1	0	A	78345780	C	A	78345780	3	1	117	1	0	0	0	0	1	0	0	0	13529	680	24	4	13033	4	RNF213	17	78345780	Missense_Mutation	SNP	C	TCGA-DU-7302-01A-11D-2086-08	37177656	78345780	2849430	42	20881											
ALPK2	115701	broad.mit.edu	37	18	56171248	56171252	+	Frame_Shift_Del	DEL	TTCTC	TTCTC	-			TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr18:56171248_56171252delTTCTC	ENST00000361673.3	-	11	6371_6375	c.6158_6162delGAGAA	c.(6157-6162)agagaafs	p.RE2053fs		NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	2053	Alpha-type protein kinase.						ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						CAGCTTCTGATTCTCTTCTCAAGAA	0.473													7	207	---	---	---	---						-	56171252	TTCTC	-	56171248	7	5	117	1	0	1	0	1	0	0	0	0	541	1490	52	0	362	0	ALPK2	18	56171248	Frame_Shift_Del	DEL	TTCTC	TCGA-DU-7302-01A-11D-2086-08		56171248	21906000	43	20882											
PKN1	5585	broad.mit.edu	37	19	14574736	14574736	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr19:14574736C>T	ENST00000242783.6	+	11	1757	c.1592C>T	c.(1591-1593)aCc>aTc	p.T531I	PKN1_ENST00000342216.4_Missense_Mutation_p.T537I	NM_002741.3	NP_002732.3	Q16512	PKN1_HUMAN	protein kinase N1	531					activation of JUN kinase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	endosome|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|GTP-Rho binding|histone binding|histone deacetylase binding|histone kinase activity (H3-T11 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|Rac GTPase binding			breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)	31						GGCACAGGCACCTTTAGCCCT	0.667													3	25					0	0	1	0	0	T	14574736	C	T	14574736	3	4	117	1	0	0	0	0	1	0	0	0	12027	507	18	2	1677	2	PKN1	19	14574736	Missense_Mutation	SNP	C	TCGA-DU-7302-01A-11D-2086-08		14574736	44554247	44	20883											
BRD4	23476	broad.mit.edu	37	19	15349706	15349708	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr19:15349706_15349708delGCT	ENST00000263377.2	-	19	4087_4089	c.3866_3868delAGC	c.(3865-3870)cagcgc>cgc	p.Q1289del		NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	bromodomain containing 4	1289	Poly-Gln.				interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle	condensed nuclear chromosome|cytoplasm	protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			tgctcctggcgctgctgctgctg	0.709			T	C15orf55	lethal midline carcinoma of young people								3	4	---	---	---	---						-	15349708	GCT	-	15349706	7	5	117	1	0	1	0	1	0	0	0	0	1506	1087	38	0	228	0	BRD4	19	15349706	In_Frame_Del	DEL	GCT	TCGA-DU-7302-01A-11D-2086-08	774970	15349706	43779277	45	20884											
RFXANK	8625	broad.mit.edu	37	19	19307810	19307810	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr19:19307810C>T	ENST00000303088.4	+	4	700	c.226C>T	c.(226-228)Cgg>Tgg	p.R76W	RFXANK_ENST00000353145.1_Missense_Mutation_p.R75W|RFXANK_ENST00000407360.3_Missense_Mutation_p.R76W|RFXANK_ENST00000456252.3_Missense_Mutation_p.R76W|RFXANK_ENST00000392324.4_Missense_Mutation_p.R75W	NM_003721.2	NP_003712.1	O14593	RFXK_HUMAN	regulatory factor X-associated ankyrin-containing protein	76						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			NS(1)|breast(1)|endometrium(1)|lung(8)|ovary(2)|prostate(1)	14			Epithelial(12;0.00228)			TCTCACCAACCGGCAGCGAGG	0.617													23	185					0	0	1	0	0	T	19307810	C	T	19307810	3	4	117	1	0	0	0	0	1	0	0	0	13321	643	23	1	232	1	RFXANK	19	19307810	Missense_Mutation	SNP	C	TCGA-DU-7302-01A-11D-2086-08	3958104	19307810	39821173	46	20885											
FFAR3	2865	broad.mit.edu	37	19	35850577	35850577	+	Missense_Mutation	SNP	C	C	T	rs141433014		TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr19:35850577C>T	ENST00000327809.4	+	2	986	c.785C>T	c.(784-786)aCg>aTg	p.T262M	FFAR3_ENST00000594310.1_Missense_Mutation_p.T262M	NM_005304.3	NP_005295.1	O14843	FFAR3_HUMAN	free fatty acid receptor 3	262						integral to plasma membrane	G-protein coupled receptor activity|lipid binding			endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|stomach(1)	17	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;1.29e-19)|OV - Ovarian serous cystadenocarcinoma(14;4.63e-18)|all cancers(14;5.19e-17)|LUSC - Lung squamous cell carcinoma(66;0.0221)			ATCTACGTGACGCTTCTCAGC	0.567													6	232					0	0	1	0	0	T	35850577	C	T	35850577	3	4	117	1	0	0	0	0	1	0	0	0	5862	536	19	1	787	1	FFAR3	19	35850577	Missense_Mutation	SNP	C	TCGA-DU-7302-01A-11D-2086-08	16542767	35850577	23278406	47	20886											
CIC	23152	broad.mit.edu	37	19	42798099	42798100	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr19:42798099_42798100delAG	ENST00000572681.2	+	18	6839_6840	c.6771_6772delAG	c.(6769-6774)tcagaafs	p.E2258fs	CIC_ENST00000160740.3_Frame_Shift_Del_p.E1350fs|CIC_ENST00000575354.2_Frame_Shift_Del_p.E1352fs			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	1352					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				GGGTCCTGTCAGAAGTGGACTT	0.678			"Mis, F, S"		oligodendroglioma								64	73	---	---	---	---						-	42798100	AG	-	42798099	7	5	117	1	0	1	0	1	0	0	0	0	3446	175	7	0	4119	0	CIC	19	42798099	Frame_Shift_Del	DEL	AG	TCGA-DU-7302-01A-11D-2086-08	6947522	42798099	16330884	48	20887											
NKX2-2	4821	broad.mit.edu	37	20	21492574	21492574	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr20:21492574delT	ENST00000377142.4	-	2	1165	c.809delA	c.(808-810)cagfs	p.Q270fs	NKX2-2-AS1_ENST00000549659.1_RNA	NM_002509.3	NP_002500.1	O95096	NKX22_HUMAN	NK2 homeobox 2	270					brain development|positive regulation of sequence-specific DNA binding transcription factor activity	nucleus	chromatin binding|core promoter proximal region DNA binding|transcription coactivator activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						CCAAGTCCACTGCTGGGCCTG	0.706													34	37	---	---	---	---						-	21492574	T	-	21492574	7	5	117	1	0	1	0	1	0	0	0	0	10497	1580	55	0	16	0	NKX2-2	20	21492574	Frame_Shift_Del	DEL	T	TCGA-DU-7302-01A-11D-2086-08		21492574	41532946	49	20888											
RGS19	10287	broad.mit.edu	37	20	62705360	62705362	+	In_Frame_Del	DEL	TTG	TTG	-			TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr20:62705360_62705362delTTG	ENST00000395042.1	-	6	764_766	c.498_500delCAA	c.(496-501)aacaag>aag	p.N166del	RGS19_ENST00000332298.5_In_Frame_Del_p.N166del	NM_005873.2	NP_005864.1	P49795	RGS19_HUMAN	regulator of G-protein signaling 19	166	RGS.				autophagy|G-protein coupled receptor protein signaling pathway|negative regulation of signal transduction|small GTPase mediated signal transduction	Golgi apparatus|membrane fraction|plasma membrane	GTPase activator activity|protein binding|signal transducer activity			lung(1)|prostate(1)|skin(1)	3	all_cancers(38;3.45e-11)|all_epithelial(29;9.12e-13)|Lung NSC(23;2e-09)|all_lung(23;6.77e-09)					CTGCATCTTCTTGTTGATGCCCT	0.64													7	115	---	---	---	---						-	62705362	TTG	-	62705360	7	5	117	1	0	1	0	1	0	0	0	0	13351	1609	56	0	157	0	RGS19	20	62705360	In_Frame_Del	DEL	TTG	TCGA-DU-7302-01A-11D-2086-08	41212786	62705360	320160	50	20889											
BAGE2	85319	broad.mit.edu	37	21	11085531	11085533	+	RNA	DEL	AAA	AAA	-			TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr21:11085531_11085533delAAA	ENST00000470054.1	-	0	324									B melanoma antigen family, member 2															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)		caccaccactaaaaccacgacca	0.596													3	4	---	---	---	---						-	11085533	AAA	-	11085531	6	5	117	0	1	1	0	1	0	0	0	0	1290	377	13	0		0	BAGE2	21	11085531	RNA	DEL	AAA	TCGA-DU-7302-01A-11D-2086-08		11085531	37044364	51	20890											
CNKSR2	22866	broad.mit.edu	37	X	21627678	21627680	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chrX:21627678_21627680delGAG	ENST00000425654.2	+	19	3025_3027	c.2545_2547delGAG	c.(2545-2547)gagdel	p.E856del	CNKSR2_ENST00000543067.1_In_Frame_Del_p.E837del|CNKSR2_ENST00000279451.4_In_Frame_Del_p.E886del|CNKSR2_ENST00000379510.3_In_Frame_Del_p.E886del	NM_001168647.1	NP_001162118.1	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras 2	886					regulation of signal transduction	cytoplasm|membrane	protein binding			breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						ggtggaggaagaggaggaggagg	0.517													7	73	---	---	---	---						-	21627680	GAG	-	21627678	7	5	117	1	0	1	0	1	0	0	0	0	3630	943	33	0	2713	0	CNKSR2	23	21627678	In_Frame_Del	DEL	GAG	TCGA-DU-7302-01A-11D-2086-08		21627678	133642882	52	20891											
KLHL15	80311	broad.mit.edu	37	X	24006740	24006740	+	Silent	SNP	T	T	C			TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chrX:24006740T>C	ENST00000328046.8	-	4	1368	c.1113A>G	c.(1111-1113)gaA>gaG	p.E371E		NM_030624.2	NP_085127.2	Q96M94	KLH15_HUMAN	kelch-like family member 15	371										autonomic_ganglia(1)|breast(1)|endometrium(8)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)	22						CTACAGCAAATTCAGAGCGTG	0.458													87	109					0	0	1	0	0	C	24006740	T	C	24006740	2	2	117	1	0	0	0	0	0	0	0	1	8414	1490	52	3		3	KLHL15	23	24006740	Silent	SNP	T	TCGA-DU-7302-01A-11D-2086-08	2379062	24006740	131263820	53	20892											
BCOR	54880	broad.mit.edu	37	X	39932365	39932366	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chrX:39932365_39932366delCT	ENST00000342274.4	-	4	2595_2596	c.2233_2234delAG	c.(2233-2235)aggfs	p.R746fs	BCOR_ENST00000378455.4_Frame_Shift_Del_p.R746fs|BCOR_ENST00000378444.4_Frame_Shift_Del_p.R746fs|BCOR_ENST00000397354.3_Frame_Shift_Del_p.R746fs	NM_001123383.1	NP_001116855.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	746					heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						CCGGGATCTCCTCTCTGGTTTC	0.515			"F, N, S, T"	RARA	"retinoblastoma, AML, APL(translocation)"		oculo-facio-cardio-dental genetic						53	132	---	---	---	---						-	39932366	CT	-	39932365	7	5	117	1	0	1	0	1	0	0	0	0	1384	681	24	0	3081	0	BCOR	23	39932365	Frame_Shift_Del	DEL	CT	TCGA-DU-7302-01A-11D-2086-08	15925625	39932365	115338195	54	20893											
SOX3	6658	broad.mit.edu	37	X	139586763	139586763	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chrX:139586763G>A	ENST00000370536.2	-	1	462	c.463C>T	c.(463-465)Cgc>Tgc	p.R155C		NM_005634.2	NP_005625.2	P41225	SOX3_HUMAN	SRY (sex determining region Y)-box 3	155					face development|hypothalamus development|negative regulation of neuron differentiation|pituitary gland development|regulation of transcription, DNA-dependent|sensory organ development|sex determination|transcription, DNA-dependent	nucleus	DNA binding	p.R155C(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1)	10	Acute lymphoblastic leukemia(192;7.65e-05)					GCCATTTTGCGCCGCTGCCCG	0.632													35	36					0	0	1	0	0	A	139586763	G	A	139586763	3	1	117	1	0	0	0	0	1	0	0	0	15005	1087	38	1	881	1	SOX3	23	139586763	Missense_Mutation	SNP	G	TCGA-DU-7302-01A-11D-2086-08	99654398	139586763	15683797	55	20894											
FLNA	2316	broad.mit.edu	37	X	153593776	153593776	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chrX:153593776A>T	ENST00000422373.1	-	10	1756	c.1508T>A	c.(1507-1509)tTc>tAc	p.F503Y	FLNA_ENST00000360319.4_Missense_Mutation_p.F503Y|FLNA_ENST00000369850.3_Missense_Mutation_p.F503Y|FLNA_ENST00000344736.4_Missense_Mutation_p.F503Y	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN	filamin A, alpha	503					actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GTACACCTTGAAGTCAGCTGT	0.672													8	85					0	0	1	0	0	T	153593776	A	T	153593776	3	4	117	1	0	0	0	0	1	0	0	0	5966	246	9	5	6591	5	FLNA	23	153593776	Missense_Mutation	SNP	A	TCGA-DU-7302-01A-11D-2086-08	14007013	153593776	1676784	56	20895											
FAM50A	9130	broad.mit.edu	37	X	153678570	153678570	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chrX:153678570A>C	ENST00000393600.3	+	12	1024	c.914A>C	c.(913-915)aAg>aCg	p.K305T		NM_004699.3	NP_004690.1	Q14320	FA50A_HUMAN	family with sequence similarity 50, member A	305					spermatogenesis	nucleus				breast(2)|central_nervous_system(1)|lung(9)|ovary(2)|skin(1)	15	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CATGCAGGCAAGGTGGTGCTG	0.607													6	129					0	0	1	0	0	C	153678570	A	C	153678570	3	2	117	1	0	0	0	0	1	0	0	0	5613	72	3	5	960	5	FAM50A	23	153678570	Missense_Mutation	SNP	A	TCGA-DU-7302-01A-11D-2086-08	84794	153678570	1591990	57	20896											
UBR4	23352	broad.mit.edu	37	1	19510670	19510670	+	Splice_Site	SNP	C	C	T			TCGA-DU-7304-01A-12D-2086-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f6d3a9-9f7d-4ac3-bef2-23a6ca0413fc	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr1:19510670C>T	ENST00000375267.2	-	16	1942		c.e16-1		UBR4_ENST00000375254.3_Splice_Site|UBR4_ENST00000375226.2_Splice_Site|UBR4_ENST00000375217.2_Splice_Site			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4						interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		GACCTAAGAACTGAAAGGAAC	0.378													6	51					0	0	1	0	0	T	19510670	C	T	19510670	5	4	118	1	0	0	0	0	0	0	1	0	16965	579	20	2	13977	2	UBR4	1	19510670	Splice_Site	SNP	C	TCGA-DU-7304-01A-12D-2086-08		19510670	229739951	1	20897											
AKR7L	246181	broad.mit.edu	37	1	19595113	19595113	+	RNA	SNP	T	T	G			TCGA-DU-7304-01A-12D-2086-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f6d3a9-9f7d-4ac3-bef2-23a6ca0413fc	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr1:19595113T>G	ENST00000420396.2	-	0	589				AKR7L_ENST00000429712.1_RNA					aldo-keto reductase family 7-like											breast(1)|endometrium(2)|ovary(1)|prostate(1)|urinary_tract(1)	6						GCCGAGGTCATGCTGGGAGCG	0.632													19	51					0	0	1	0	0	G	19595113	T	G	19595113	1	3	118	0	1	0	0	0	0	0	0	0	474	1464	51	4		4	AKR7L	1	19595113	RNA	SNP	T	TCGA-DU-7304-01A-12D-2086-08	84443	19595113	229655508	2	20898											
ARID1A	8289	broad.mit.edu	37	1	27087503	27087503	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-7304-01A-12D-2086-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f6d3a9-9f7d-4ac3-bef2-23a6ca0413fc	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr1:27087503C>T	ENST00000324856.7	+	5	2448	c.2077C>T	c.(2077-2079)Cga>Tga	p.R693*	ARID1A_ENST00000457599.2_Nonsense_Mutation_p.R693*|ARID1A_ENST00000374152.2_Nonsense_Mutation_p.R310*	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	693					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	p.R693*(5)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GCCTGGCATCCGAGGCCCTTC	0.602			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"								8	114					0	0	1	0	0	T	27087503	C	T	27087503	4	4	118	1	0	0	0	0	0	1	0	0	910	644	23	1	2095	1	ARID1A	1	27087503	Nonsense_Mutation	SNP	C	TCGA-DU-7304-01A-12D-2086-08	7492390	27087503	222163118	3	20899											
KCNQ4	9132	broad.mit.edu	37	1	41303400	41303400	+	Silent	SNP	G	G	A			TCGA-DU-7304-01A-12D-2086-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f6d3a9-9f7d-4ac3-bef2-23a6ca0413fc	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr1:41303400G>A	ENST00000347132.5	+	13	1891	c.1809G>A	c.(1807-1809)ggG>ggA	p.G603G	KCNQ4_ENST00000509682.2_Silent_p.G549G|KCNQ4_ENST00000506017.1_3'UTR	NM_004700.3|NM_172163.2	NP_004691.2|NP_751895.1	P56696	KCNQ4_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 4	603	A-domain (Tetramerization).				sensory perception of sound	basal plasma membrane|voltage-gated potassium channel complex				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(13)|skin(1)	26	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.38e-17)			GCGACAAGGGGCCCTCCGACG	0.642													3	21					0	0	1	0	0	A	41303400	G	A	41303400	2	1	118	1	0	0	0	0	0	0	0	1	8129	1190	42	2		2	KCNQ4	1	41303400	Silent	SNP	G	TCGA-DU-7304-01A-12D-2086-08	14215897	41303400	207947221	4	20900											
PCSK9	255738	broad.mit.edu	37	1	55525160	55525160	+	Splice_Site	DEL	C	C	-			TCGA-DU-7304-01A-12D-2086-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f6d3a9-9f7d-4ac3-bef2-23a6ca0413fc	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr1:55525160delC	ENST00000302118.5	+	10	1795	c.1505delC	c.(1504-1506)gcc>gc	p.A502fs	PCSK9_ENST00000490692.1_Intron|PCSK9_ENST00000543384.1_3'UTR	NM_174936.3	NP_777596.2	Q8NBP7	PCSK9_HUMAN	proprotein convertase subtilisin/kexin type 9	502					cellular response to insulin stimulus|cellular response to starvation|cholesterol homeostasis|cholesterol metabolic process|kidney development|liver development|low-density lipoprotein particle receptor catabolic process|lysosomal transport|negative regulation of catalytic activity|negative regulation of low-density lipoprotein particle clearance|negative regulation of receptor recycling|neuron differentiation|positive regulation of neuron apoptosis|positive regulation of receptor internalization|protein autoprocessing|regulation of receptor activity	extracellular space|late endosome|lysosome|perinuclear region of cytoplasm	apolipoprotein receptor binding|identical protein binding|low-density lipoprotein particle receptor binding|serine-type endopeptidase activity|very-low-density lipoprotein particle receptor binding			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(1)|liver(2)|lung(4)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	32						GACTCTAAGGCCCAAGGGGGC	0.557													2	4	---	---	---	---						-	55525160	C	-	55525160	8	5	118	1	0	1	0	1	0	0	1	0	11653	753	26	0	1543	0	PCSK9	1	55525160	Splice_Site	DEL	C	TCGA-DU-7304-01A-12D-2086-08	14221760	55525160	193725461	5	20901											
ZNF644	84146	broad.mit.edu	37	1	91405809	91405809	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7304-01A-12D-2086-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f6d3a9-9f7d-4ac3-bef2-23a6ca0413fc	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr1:91405809C>T	ENST00000370440.1	-	3	1319	c.1102G>A	c.(1102-1104)Gat>Aat	p.D368N	ZNF644_ENST00000361321.5_Intron|ZNF644_ENST00000467231.1_Intron|ZNF644_ENST00000337393.5_Missense_Mutation_p.D368N|ZNF644_ENST00000347275.5_Intron			Q9H582	ZN644_HUMAN	zinc finger protein 644	368					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	47		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		CCACACTTATCTGGGTTATAA	0.368													4	101					0	0	1	0	0	T	91405809	C	T	91405809	3	4	118	1	0	0	0	0	1	0	0	0	18117	913	32	2	2897	2	ZNF644	1	91405809	Missense_Mutation	SNP	C	TCGA-DU-7304-01A-12D-2086-08	35880649	91405809	157844812	6	20902											
ADAM30	11085	broad.mit.edu	37	1	120437550	120437550	+	Silent	SNP	G	G	A			TCGA-DU-7304-01A-12D-2086-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f6d3a9-9f7d-4ac3-bef2-23a6ca0413fc	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr1:120437550G>A	ENST00000369400.1	-	1	1568	c.1410C>T	c.(1408-1410)tgC>tgT	p.C470C		NM_021794.3	NP_068566.2	Q9UKF2	ADA30_HUMAN	ADAM metallopeptidase domain 30	470	Disintegrin.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		AATTCCCGTCGCAGTACTCTG	0.483													13	74					0	0	1	0	0	A	120437550	G	A	120437550	2	1	118	1	0	0	0	0	0	0	0	1	247	1079	38	1		1	ADAM30	1	120437550	Silent	SNP	G	TCGA-DU-7304-01A-12D-2086-08	29031741	120437550	128813071	7	20903											
DAPL1	92196	broad.mit.edu	37	2	159660849	159660849	+	Silent	SNP	A	A	G			TCGA-DU-7304-01A-12D-2086-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f6d3a9-9f7d-4ac3-bef2-23a6ca0413fc	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr2:159660849A>G	ENST00000309950.3	+	2	170	c.114A>G	c.(112-114)agA>agG	p.R38R	DAPL1_ENST00000409042.1_Silent_p.R38R	NM_001017920.2	NP_001017920.2	A0PJW8	DAPL1_HUMAN	death associated protein-like 1	38					apoptosis|cell differentiation					prostate(1)	1						CCTTGGAAAGACATACCAAAA	0.378													8	8					0	0	1	0	0	G	159660849	A	G	159660849	2	3	118	1	0	0	0	0	0	0	0	1	4262	272	10	3		3	DAPL1	2	159660849	Silent	SNP	A	TCGA-DU-7304-01A-12D-2086-08		159660849	83538524	8	20904											
TTN	7273	broad.mit.edu	37	2	179592377	179592377	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-7304-01A-12D-2086-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f6d3a9-9f7d-4ac3-bef2-23a6ca0413fc	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr2:179592377T>C	ENST00000589042.1	-	68	20152	c.19928A>G	c.(19927-19929)cAg>cGg	p.Q6643R	TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.Q6326R|TTN_ENST00000342992.6_Missense_Mutation_p.Q5399R|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	6326	Ig-like 48.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCAAGTATACTGTCCAGTCTT	0.418													12	239					0	0	1	0	0	C	179592377	T	C	179592377	3	2	118	1	0	0	0	0	1	0	0	0	16797	1580	55	3	84781	3	TTN	2	179592377	Missense_Mutation	SNP	T	TCGA-DU-7304-01A-12D-2086-08	19931528	179592377	63606996	9	20905											
IDH1	3417	broad.mit.edu	37	2	209113113	209113113	+	Missense_Mutation	SNP	G	G	C	rs121913499		TCGA-DU-7304-01A-12D-2086-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f6d3a9-9f7d-4ac3-bef2-23a6ca0413fc	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr2:209113113G>C	ENST00000415913.1	-	4	775	c.394C>G	c.(394-396)Cgt>Ggt	p.R132G	IDH1_ENST00000446179.1_Missense_Mutation_p.R132G|IDH1_ENST00000345146.2_Missense_Mutation_p.R132G	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		TAAGCATGACGACCTATGATG	0.398			Mis		gliobastoma								35	59					0	0	1	0	0	C	209113113	G	C	209113113	3	2	118	1	0	0	0	0	1	0	0	0	7538	1058	37	5	878	5	IDH1	2	209113113	Missense_Mutation	SNP	G	TCGA-DU-7304-01A-12D-2086-08	29520736	209113113	34086260	10	20906											
SP140	11262	broad.mit.edu	37	2	231108509	231108509	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7304-01A-12D-2086-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f6d3a9-9f7d-4ac3-bef2-23a6ca0413fc	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr2:231108509C>T	ENST00000392045.3	+	5	668	c.554C>T	c.(553-555)tCg>tTg	p.S185L	SP140_ENST00000417495.3_Missense_Mutation_p.S185L|SP140_ENST00000486687.2_Missense_Mutation_p.S185L|SP140_ENST00000420434.3_Missense_Mutation_p.S185L|SP140_ENST00000350136.5_Missense_Mutation_p.S165L|SP140_ENST00000343805.6_Missense_Mutation_p.S185L	NM_007237.4	NP_009168.4	Q13342	LY10_HUMAN	SP140 nuclear body protein	185					defense response	cytoplasm|nuclear envelope|nucleolus|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		TTGAGCTCCTCGCCAAGGTGT	0.488													8	74					0	0	1	0	0	T	231108509	C	T	231108509	3	4	118	1	0	0	0	0	1	0	0	0	15016	893	31	1	689	1	SP140	2	231108509	Missense_Mutation	SNP	C	TCGA-DU-7304-01A-12D-2086-08	21995396	231108509	12090864	11	20907											
CAND2	23066	broad.mit.edu	37	3	12858002	12858002	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7304-01A-12D-2086-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f6d3a9-9f7d-4ac3-bef2-23a6ca0413fc	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr3:12858002C>T	ENST00000456430.2	+	10	1612	c.1571C>T	c.(1570-1572)cCa>cTa	p.P524L	CAND2_ENST00000295989.5_Missense_Mutation_p.P431L	NM_001162499.1	NP_001155971.1	O75155	CAND2_HUMAN	cullin-associated and neddylation-dissociated 2 (putative)	524					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(8)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						ATCCTCCTGCCACCTGTGATG	0.642													7	103					0	0	1	0	0	T	12858002	C	T	12858002	3	4	118	1	0	0	0	0	1	0	0	0	2634	594	21	2	1609	2	CAND2	3	12858002	Missense_Mutation	SNP	C	TCGA-DU-7304-01A-12D-2086-08		12858002	185164428	12	20908											
ITIH1	3697	broad.mit.edu	37	3	52819072	52819072	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-7304-01A-12D-2086-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f6d3a9-9f7d-4ac3-bef2-23a6ca0413fc	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr3:52819072C>G	ENST00000273283.2	+	12	1444	c.1420C>G	c.(1420-1422)Cag>Gag	p.Q474E	ITIH1_ENST00000537050.1_Missense_Mutation_p.Q186E|ITIH1_ENST00000542827.1_Missense_Mutation_p.Q474E|ITIH1_ENST00000540715.1_Missense_Mutation_p.Q332E	NM_002215.3	NP_002206.2	P19827	ITIH1_HUMAN	inter-alpha-trypsin inhibitor heavy chain 1	474	Hyaluronan-binding.				hyaluronan metabolic process|leukocyte activation	extracellular region	calcium ion binding|serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	52				BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)		TTTCTACAGCCAGGTAGCCAA	0.557													4	104					0	0	1	0	0	G	52819072	C	G	52819072	3	3	118	1	0	0	0	0	1	0	0	0	7947	595	21	5	1466	5	ITIH1	3	52819072	Missense_Mutation	SNP	C	TCGA-DU-7304-01A-12D-2086-08	39961070	52819072	145203358	13	20909											
ACPP	55	broad.mit.edu	37	3	132051045	132051045	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-7304-01A-12D-2086-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f6d3a9-9f7d-4ac3-bef2-23a6ca0413fc	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr3:132051045C>T	ENST00000336375.5	+	4	403	c.313C>T	c.(313-315)Cga>Tga	p.R105*	ACPP_ENST00000489084.1_3'UTR|ACPP_ENST00000475741.1_Nonsense_Mutation_p.R105*|ACPP_ENST00000351273.7_Nonsense_Mutation_p.R105*	NM_001099.4	NP_001090.2	P15309	PPAP_HUMAN	acid phosphatase, prostate	105						extracellular region|lysosomal membrane	5'-nucleotidase activity|acid phosphatase activity	p.R105*(1)		NS(1)|breast(1)|endometrium(2)|large_intestine(5)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	27						GGTTTATATTCGAAGCACAGA	0.458													7	138					0	0	1	0	0	T	132051045	C	T	132051045	4	4	118	1	0	0	0	0	0	1	0	0	167	876	31	1	327	1	ACPP	3	132051045	Nonsense_Mutation	SNP	C	TCGA-DU-7304-01A-12D-2086-08	79231973	132051045	65971385	14	20910											
C3orf58	205428	broad.mit.edu	37	3	143708579	143708579	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-7304-01A-12D-2086-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f6d3a9-9f7d-4ac3-bef2-23a6ca0413fc	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr3:143708579G>C	ENST00000315691.3	+	3	1724	c.1189G>C	c.(1189-1191)Gcc>Ccc	p.A397P	C3orf58_ENST00000493396.1_Intron|C3orf58_ENST00000495414.1_Missense_Mutation_p.A188P|C3orf58_ENST00000441925.2_Missense_Mutation_p.A159P	NM_173552.3	NP_775823.1	Q8NDZ4	CC058_HUMAN	chromosome 3 open reading frame 58	397						COPI vesicle coat|extracellular region				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CCGGCTCGAGGCCTTGCTGGA	0.507													29	55					0	0	1	0	0	C	143708579	G	C	143708579	3	2	118	1	0	0	0	0	1	0	0	0	2250	1203	42	5	1233	5	C3orf58	3	143708579	Missense_Mutation	SNP	G	TCGA-DU-7304-01A-12D-2086-08	11657534	143708579	54313851	15	20911											
LRRC31	79782	broad.mit.edu	37	3	169572755	169572755	+	Silent	SNP	C	C	T			TCGA-DU-7304-01A-12D-2086-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f6d3a9-9f7d-4ac3-bef2-23a6ca0413fc	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr3:169572755C>T	ENST00000316428.5	-	6	894	c.837G>A	c.(835-837)agG>agA	p.R279R	LRRC31_ENST00000397805.2_5'UTR|LRRC31_ENST00000264676.5_Silent_p.R223R|LRRC31_ENST00000523069.1_Silent_p.R279R	NM_001277127.1|NM_024727.2	NP_001264056.1|NP_079003.2	Q6UY01	LRC31_HUMAN	leucine rich repeat containing 31	279										cervix(3)|endometrium(3)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	31	all_cancers(22;2.76e-22)|all_epithelial(15;4.73e-27)|all_lung(20;9.24e-17)|Lung NSC(18;3.85e-16)|Ovarian(172;0.000223)|Breast(254;0.197)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00943)			CACCCAAATACCTAAAAGCAG	0.478													3	38					0	0	1	0	0	T	169572755	C	T	169572755	2	4	118	1	0	0	0	0	0	0	0	1	9031	506	18	2		2	LRRC31	3	169572755	Silent	SNP	C	TCGA-DU-7304-01A-12D-2086-08	25864176	169572755	28449675	16	20912											
MCCC1	56922	broad.mit.edu	37	3	182810270	182810270	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7304-01A-12D-2086-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f6d3a9-9f7d-4ac3-bef2-23a6ca0413fc	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr3:182810270G>A	ENST00000265594.4	-	3	346	c.200C>T	c.(199-201)aCa>aTa	p.T67I	MCCC1_ENST00000492597.1_Intron|MCCC1_ENST00000539926.1_Intron	NM_020166.3	NP_064551.3	Q96RQ3	MCCA_HUMAN	methylcrotonoyl-CoA carboxylase 1 (alpha)	67	Biotin carboxylation.				biotin metabolic process|leucine catabolic process	mitochondrial inner membrane|mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|methylcrotonoyl-CoA carboxylase activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(17)|ovary(1)|pancreas(2)|prostate(1)|skin(2)	40	all_cancers(143;1.84e-14)|Ovarian(172;0.0355)		all cancers(12;1.8e-44)|Epithelial(37;3.23e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;5.07e-21)		Biotin(DB00121)	TTTTTTGGCTGTGCGCATCAC	0.418													4	62					0	0	1	0	0	A	182810270	G	A	182810270	3	1	118	1	0	0	0	0	1	0	0	0	9424	1377	48	2	2045	2	MCCC1	3	182810270	Missense_Mutation	SNP	G	TCGA-DU-7304-01A-12D-2086-08	13237515	182810270	15212160	17	20913											
AFP	174	broad.mit.edu	37	4	74301968	74301968	+	Translation_Start_Site	SNP	T	T	G			TCGA-DU-7304-01A-12D-2086-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f6d3a9-9f7d-4ac3-bef2-23a6ca0413fc	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr4:74301968T>G	ENST00000395792.2	+	0	89				AFP_ENST00000226359.2_De_novo_Start_OutOfFrame	NM_001134.1	NP_001125.1	P02771	FETA_HUMAN	alpha-fetoprotein						transport		metal ion binding			breast(1)|endometrium(2)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|urinary_tract(1)	22	Breast(15;0.00102)		Epithelial(6;2.42e-05)|all cancers(17;0.000268)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			AATAACAAAATAACTAGCAAC	0.333									Alpha-Fetoprotein, Hereditary Persistence of				8	14					0	0	1	0	0	G	74301968	T	G	74301968	1	3	118	1	0	0	0	0	0	0	0	0	362	1421	49	4		4	AFP	4	74301968	Translation_Start_Site	SNP	T	TCGA-DU-7304-01A-12D-2086-08		74301968	116852308	18	20914											
SLC12A7	10723	broad.mit.edu	37	5	1089127	1089127	+	Silent	SNP	G	G	A			TCGA-DU-7304-01A-12D-2086-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f6d3a9-9f7d-4ac3-bef2-23a6ca0413fc	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr5:1089127G>A	ENST00000264930.5	-	4	502	c.459C>T	c.(457-459)tcC>tcT	p.S153S		NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 7	153					potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	CGATGAGGAAGGACTCCAGGA	0.647													4	125					0	0	1	0	0	A	1089127	G	A	1089127	2	1	118	1	0	0	0	0	0	0	0	1	14443	987	35	2		2	SLC12A7	5	1089127	Silent	SNP	G	TCGA-DU-7304-01A-12D-2086-08		1089127	179826133	19	20915											
MAP3K1	4214	broad.mit.edu	37	5	56181765	56181765	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7304-01A-12D-2086-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f6d3a9-9f7d-4ac3-bef2-23a6ca0413fc	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr5:56181765C>T	ENST00000399503.3	+	17	3989	c.3989C>T	c.(3988-3990)tCg>tTg	p.S1330L		NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase	1330	Protein kinase.				cellular response to mechanical stimulus|innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|zinc ion binding			NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		ATAGGGGGATCGGTGGCTCAT	0.343													22	36					0	0	1	0	0	T	56181765	C	T	56181765	3	4	118	1	0	0	0	0	1	0	0	0	9293	893	31	1	4055	1	MAP3K1	5	56181765	Missense_Mutation	SNP	C	TCGA-DU-7304-01A-12D-2086-08	55092638	56181765	124733495	20	20916											
KIF6	221458	broad.mit.edu	37	6	39353431	39353431	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-7304-01A-12D-2086-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f6d3a9-9f7d-4ac3-bef2-23a6ca0413fc	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr6:39353431T>C	ENST00000287152.7	-	16	1922	c.1828A>G	c.(1828-1830)Atc>Gtc	p.I610V	KIF6_ENST00000373213.4_Missense_Mutation_p.I449V|KIF6_ENST00000394362.1_Missense_Mutation_p.I61V|KIF6_ENST00000538893.1_Missense_Mutation_p.I554V|KIF6_ENST00000373215.3_Intron|KIF6_ENST00000541946.1_Missense_Mutation_p.I61V|KIF6_ENST00000373216.3_Missense_Mutation_p.I610V|KIF6_ENST00000229913.5_Missense_Mutation_p.I61V	NM_145027.4	NP_659464.3	Q6ZMV9	KIF6_HUMAN	kinesin family member 6	610					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						CGCTGGGTGATTTCTTCCTTC	0.463													3	69					0	0	1	0	0	C	39353431	T	C	39353431	3	2	118	1	0	0	0	0	1	0	0	0	8350	1493	52	3	648	3	KIF6	6	39353431	Missense_Mutation	SNP	T	TCGA-DU-7304-01A-12D-2086-08		39353431	131761636	21	20917											
ATG5	9474	broad.mit.edu	37	6	106727551	106727551	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-7304-01A-12D-2086-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f6d3a9-9f7d-4ac3-bef2-23a6ca0413fc	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr6:106727551T>C	ENST00000369076.3	-	5	786	c.463A>G	c.(463-465)Atg>Gtg	p.M155V	ATG5_ENST00000360666.4_Intron|ATG5_ENST00000369070.1_Missense_Mutation_p.M77V|ATG5_ENST00000343245.3_Missense_Mutation_p.M155V	NM_004849.2	NP_004840.1	Q9H1Y0	ATG5_HUMAN	autophagy related 5	155					apoptosis|autophagic vacuole assembly|negative regulation of type I interferon production|post-translational protein modification	autophagic vacuole|pre-autophagosomal structure membrane	protein binding			endometrium(1)|large_intestine(5)|lung(1)|prostate(1)	8	Breast(9;0.0296)	all_cancers(87;0.000301)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.0612)|Lung NSC(302;0.216)	BRCA - Breast invasive adenocarcinoma(8;0.00802)	OV - Ovarian serous cystadenocarcinoma(136;0.128)|Epithelial(106;0.159)|all cancers(137;0.18)		TGCAATCCCATCCAGAGTTGC	0.303													19	24					0	0	1	0	0	C	106727551	T	C	106727551	3	2	118	1	0	0	0	0	1	0	0	0	1099	1435	50	3	380	3	ATG5	6	106727551	Missense_Mutation	SNP	T	TCGA-DU-7304-01A-12D-2086-08	67374120	106727551	64387516	22	20918											
MARCKS	4082	broad.mit.edu	37	6	114181209	114181210	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DU-7304-01A-12D-2086-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f6d3a9-9f7d-4ac3-bef2-23a6ca0413fc	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr6:114181209_114181210insA	ENST00000368635.4	+	2	834_835	c.453_454insA	c.(454-456)aaafs	p.K152fs		NM_002356.5	NP_002347.5	P29966	MARCS_HUMAN	myristoylated alanine-rich protein kinase C substrate	152	Calmodulin-binding (PSD).				energy reserve metabolic process|regulation of insulin secretion	actin cytoskeleton|plasma membrane	actin filament binding|calmodulin binding	p.K155fs*12(1)		breast(1)|kidney(1)|large_intestine(1)|lung(1)	4		all_cancers(87;7.65e-05)|all_epithelial(87;0.000296)|all_hematologic(75;0.0172)|Colorectal(196;0.0317)|all_lung(197;0.198)		Epithelial(106;1.59e-07)|all cancers(137;9.85e-07)|OV - Ovarian serous cystadenocarcinoma(136;0.000322)		ACGAGACCCCGAAAAAAAAAAA	0.614													3	5	---	---	---	---						A	114181210	-	A	114181209	7	5	118	1	0	1	1	0	0	0	0	0	9359	1045	37	0	459	0	MARCKS	6	114181209	Frame_Shift_Ins	INS	-	TCGA-DU-7304-01A-12D-2086-08	7453658	114181209	56933858	23	20919											
RAPGEF1	2889	broad.mit.edu	37	9	134501730	134501730	+	Silent	SNP	G	G	A			TCGA-DU-7304-01A-12D-2086-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f6d3a9-9f7d-4ac3-bef2-23a6ca0413fc	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr9:134501730G>A	ENST00000372195.1	-	10	1524	c.1281C>T	c.(1279-1281)aaC>aaT	p.N427N	RAPGEF1_ENST00000372189.3_Silent_p.N410N|RAPGEF1_ENST00000372190.3_Silent_p.N428N|RAPGEF1_ENST00000481260.1_5'UTR			Q13905	RPGF1_HUMAN	Rap guanine nucleotide exchange factor (GEF) 1	410					activation of MAPKK activity|nerve growth factor receptor signaling pathway|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|endosome	guanyl-nucleotide exchange factor activity|SH3 domain binding			NS(2)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	39		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364)		ACGGGCTAAGGTTCCAGGCCG	0.567													6	69					0	0	1	0	0	A	134501730	G	A	134501730	2	1	118	1	0	0	0	0	0	0	0	1	13095	1252	44	2		2	RAPGEF1	9	134501730	Silent	SNP	G	TCGA-DU-7304-01A-12D-2086-08		134501730	6711701	24	20920											
RAPGEF1	2889	broad.mit.edu	37	9	134501807	134501807	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7304-01A-12D-2086-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f6d3a9-9f7d-4ac3-bef2-23a6ca0413fc	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr9:134501807G>A	ENST00000372195.1	-	10	1447	c.1204C>T	c.(1204-1206)Cac>Tac	p.H402Y	RAPGEF1_ENST00000372189.3_Missense_Mutation_p.H385Y|RAPGEF1_ENST00000372190.3_Missense_Mutation_p.H403Y|RAPGEF1_ENST00000481260.1_5'UTR			Q13905	RPGF1_HUMAN	Rap guanine nucleotide exchange factor (GEF) 1	385					activation of MAPKK activity|nerve growth factor receptor signaling pathway|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|endosome	guanyl-nucleotide exchange factor activity|SH3 domain binding			NS(2)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	39		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364)		GGATCATAGTGGTCTGCAGTT	0.592													7	104					0	0	1	0	0	A	134501807	G	A	134501807	3	1	118	1	0	0	0	0	1	0	0	0	13095	1348	47	2	2140	2	RAPGEF1	9	134501807	Missense_Mutation	SNP	G	TCGA-DU-7304-01A-12D-2086-08	77	134501807	6711624	25	20921											
OIT3	170392	broad.mit.edu	37	10	74673065	74673065	+	Splice_Site	SNP	G	G	C			TCGA-DU-7304-01A-12D-2086-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f6d3a9-9f7d-4ac3-bef2-23a6ca0413fc	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr10:74673065G>C	ENST00000334011.5	+	6	1008		c.e6-1			NM_152635.1	NP_689848.1	Q8WWZ8	OIT3_HUMAN	oncoprotein induced transcript 3							nuclear envelope	calcium ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)	35	Prostate(51;0.0198)					TTTCTCTGCAGTCCCTGTGTT	0.502													5	231					0	0	1	0	0	C	74673065	G	C	74673065	5	2	118	1	0	0	0	0	0	0	1	0	10897	1043	36	4	812	4	OIT3	10	74673065	Splice_Site	SNP	G	TCGA-DU-7304-01A-12D-2086-08		74673065	60861682	26	20922											
NELL1	4745	broad.mit.edu	37	11	20950023	20950023	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7304-01A-12D-2086-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f6d3a9-9f7d-4ac3-bef2-23a6ca0413fc	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr11:20950023G>A	ENST00000298925.5	+	10	1232	c.1079G>A	c.(1078-1080)cGa>cAa	p.R360Q	NELL1_ENST00000325319.5_Missense_Mutation_p.R275Q|NELL1_ENST00000532434.1_Missense_Mutation_p.R332Q|NELL1_ENST00000357134.5_Missense_Mutation_p.R332Q			Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	332	VWFC 2.				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity	p.R332Q(1)		NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						AAGGTCTGCCGACGTAAGTAC	0.488													31	54					0	0	1	0	0	A	20950023	G	A	20950023	3	1	118	1	0	0	0	0	1	0	0	0	10380	1058	37	1	1029	1	NELL1	11	20950023	Missense_Mutation	SNP	G	TCGA-DU-7304-01A-12D-2086-08		20950023	114056493	27	20923											
KRTAP5-10	387273	broad.mit.edu	37	11	71276879	71276879	+	Silent	SNP	G	G	T	rs36179995		TCGA-DU-7304-01A-12D-2086-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f6d3a9-9f7d-4ac3-bef2-23a6ca0413fc	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr11:71276879G>T	ENST00000398531.1	+	1	271	c.246G>T	c.(244-246)ggG>ggT	p.G82G	KRTAP5-10_ENST00000376536.4_Intron	NM_001012710.1	NP_001012728.1	Q6L8G5	KR510_HUMAN	keratin associated protein 5-10	82	7 X 4 AA repeats of C-C-X-P.					keratin filament				endometrium(2)|large_intestine(1)|lung(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	12						GCTCCAAAGGGGGCTGTGGTT	0.682													7	284					7.48243e-07	7.90596e-07	1	1	0	T	71276879	G	T	71276879	2	4	118	1	0	0	0	0	0	0	0	1	8599	1219	43	5		5	KRTAP5-10	11	71276879	Silent	SNP	G	TCGA-DU-7304-01A-12D-2086-08	50326856	71276879	63729637	28	20924											
FGF23	8074	broad.mit.edu	37	12	4479524	4479524	+	Silent	SNP	G	G	A			TCGA-DU-7304-01A-12D-2086-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f6d3a9-9f7d-4ac3-bef2-23a6ca0413fc	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr12:4479524G>A	ENST00000237837.1	-	3	886	c.741C>T	c.(739-741)ttC>ttT	p.F247F		NM_020638.2	NP_065689.1	Q9GZV9	FGF23_HUMAN	fibroblast growth factor 23	247					cell differentiation|insulin receptor signaling pathway|negative regulation of bone mineralization|negative regulation of hormone secretion|negative regulation of osteoblast differentiation|positive regulation of vitamin D 24-hydroxylase activity|regulation of phosphate transport|vitamin D catabolic process	extracellular space	growth factor activity	p.F247F(1)		NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	22			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)|STAD - Stomach adenocarcinoma(119;0.206)			TGAACTTGGCGAAGGGGCGGC	0.627													6	121					0	0	1	0	0	A	4479524	G	A	4479524	2	1	118	1	0	0	0	0	0	0	0	1	5885	1049	37	1		1	FGF23	12	4479524	Silent	SNP	G	TCGA-DU-7304-01A-12D-2086-08		4479524	129372371	29	20925											
EMG1	10436	broad.mit.edu	37	12	7080212	7080213	+	Splice_Site	INS	-	-	C	rs36063533		TCGA-DU-7304-01A-12D-2086-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f6d3a9-9f7d-4ac3-bef2-23a6ca0413fc	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr12:7080212_7080213insC	ENST00000261406.6	+	2	267_268	c.124_125insC	c.(124-126)ttt>tCtt	p.F42fs	EMG1_ENST00000546220.1_3'UTR	NM_006331.7	NP_006322.4	Q92979	NEP1_HUMAN	EMG1 N1-specific pseudouridine methyltransferase						ribosomal small subunit biogenesis	cytoplasm|nucleolus	rRNA (pseudouridine) methyltransferase activity|rRNA binding										GAGGCCGTAGTTTATTGTGGTG	0.569													7	31	---	---	---	---						C	7080213	-	C	7080212	8	5	118	1	0	1	1	0	0	0	1	0	5118	1722	60	0	128	0	EMG1	12	7080212	Splice_Site	INS	-	TCGA-DU-7304-01A-12D-2086-08	2600688	7080212	126771683	30	20926											
SLCO1A2	6579	broad.mit.edu	37	12	21422506	21422506	+	Silent	SNP	A	A	G			TCGA-DU-7304-01A-12D-2086-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f6d3a9-9f7d-4ac3-bef2-23a6ca0413fc	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr12:21422506A>G	ENST00000307378.6	-	16	2709	c.1989T>C	c.(1987-1989)gaT>gaC	p.D663D	SLCO1A2_ENST00000537524.1_Silent_p.D531D|SLCO1A2_ENST00000452078.1_Silent_p.D663D|SLCO1A2_ENST00000458504.1_Silent_p.D531D	NM_134431.3	NP_602307.1	P46721	SO1A2_HUMAN	solute carrier organic anion transporter family, member 1A2	663					bile acid metabolic process|sodium-independent organic anion transport	integral to membrane|plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1)	48						TCAATTCATCATCTTTCAAAA	0.308													37	56					0	0	1	0	0	G	21422506	A	G	21422506	2	3	118	1	0	0	0	0	0	0	0	1	14777	214	8	3		3	SLCO1A2	12	21422506	Silent	SNP	A	TCGA-DU-7304-01A-12D-2086-08	14342294	21422506	112429389	31	20927											
NR4A1	3164	broad.mit.edu	37	12	52451162	52451164	+	In_Frame_Del	DEL	TCT	TCT	-			TCGA-DU-7304-01A-12D-2086-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f6d3a9-9f7d-4ac3-bef2-23a6ca0413fc	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr12:52451162_52451164delTCT	ENST00000545748.1	+	7	2545_2547	c.1550_1552delTCT	c.(1549-1554)atcttc>atc	p.F518del	NR4A1_ENST00000243050.1_In_Frame_Del_p.F464del|NR4A1_ENST00000550082.1_In_Frame_Del_p.F477del|NR4A1_ENST00000394824.2_In_Frame_Del_p.F464del|NR4A1_ENST00000360284.3_In_Frame_Del_p.F477del|NR4A1_ENST00000394825.1_In_Frame_Del_p.F464del			P22736	NR4A1_HUMAN	nuclear receptor subfamily 4, group A, member 1	464					nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor		steroid hormone receptor activity|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)	16				BRCA - Breast invasive adenocarcinoma(357;0.0967)		GGCAAGCTCATCTTCTGCTCAGG	0.611													38	77	---	---	---	---						-	52451164	TCT	-	52451162	7	5	118	1	0	1	0	1	0	0	0	0	10680	1435	50	0	1406	0	NR4A1	12	52451162	In_Frame_Del	DEL	TCT	TCGA-DU-7304-01A-12D-2086-08	31028656	52451162	81400733	32	20928											
ACACB	32	broad.mit.edu	37	12	109647094	109647094	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7304-01A-12D-2086-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f6d3a9-9f7d-4ac3-bef2-23a6ca0413fc	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr12:109647094G>A	ENST00000338432.7	+	21	3304	c.3185G>A	c.(3184-3186)cGc>cAc	p.R1062H	ACACB_ENST00000377854.5_Missense_Mutation_p.R1062H|ACACB_ENST00000377848.3_Missense_Mutation_p.R1062H			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	1062					acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	AAGTCTGTCCGCAGGGTGATG	0.667													3	51					0	0	1	0	0	A	109647094	G	A	109647094	3	1	118	1	0	0	0	0	1	0	0	0	107	1087	38	1	3263	1	ACACB	12	109647094	Missense_Mutation	SNP	G	TCGA-DU-7304-01A-12D-2086-08	57195932	109647094	24204801	33	20929											
FAM124A	220108	broad.mit.edu	37	13	51825705	51825705	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7304-01A-12D-2086-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f6d3a9-9f7d-4ac3-bef2-23a6ca0413fc	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr13:51825705G>A	ENST00000322475.8	+	3	337	c.202G>A	c.(202-204)Gtc>Atc	p.V68I	FAM124A_ENST00000280057.6_Missense_Mutation_p.V104I	NM_001242312.1	NP_001229241.1	Q86V42	F124A_HUMAN	family with sequence similarity 124A	68										breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|skin(1)	26		Acute lymphoblastic leukemia(7;0.000334)|Breast(56;0.00156)|Prostate(109;0.00538)|Lung NSC(96;0.0216)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;4.25e-07)		CATCGACAACGTCCTGGCGTG	0.682													9	15					0	0	1	0	0	A	51825705	G	A	51825705	3	1	118	1	0	0	0	0	1	0	0	0	5456	1145	40	1	324	1	FAM124A	13	51825705	Missense_Mutation	SNP	G	TCGA-DU-7304-01A-12D-2086-08		51825705	63344173	34	20930											
TPPP2	122664	broad.mit.edu	37	14	21498757	21498757	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-7304-01A-12D-2086-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f6d3a9-9f7d-4ac3-bef2-23a6ca0413fc	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr14:21498757A>C	ENST00000321760.6	+	2	165	c.17A>C	c.(16-18)gAa>gCa	p.E6A	TPPP2_ENST00000530140.2_Missense_Mutation_p.E6A|TPPP2_ENST00000460647.2_Missense_Mutation_p.E6A|NDRG2_ENST00000403829.3_Intron	NM_173846.4	NP_776245.2	P59282	TPPP2_HUMAN	tubulin polymerization-promoting protein family member 2	6						cytoplasm				endometrium(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9	all_cancers(95;0.000759)		OV - Ovarian serous cystadenocarcinoma(11;6.85e-11)|Epithelial(56;9.49e-09)|all cancers(55;3.84e-08)	GBM - Glioblastoma multiforme(265;0.0191)		TCAGAGGCAGAAAAAACATTC	0.522													3	21					0	0	1	0	0	C	21498757	A	C	21498757	3	2	118	1	0	0	0	0	1	0	0	0	16475	246	9	5	19	5	TPPP2	14	21498757	Missense_Mutation	SNP	A	TCGA-DU-7304-01A-12D-2086-08		21498757	85850783	35	20931											
PLEKHG3	26030	broad.mit.edu	37	14	65198857	65198857	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-7304-01A-12D-2086-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f6d3a9-9f7d-4ac3-bef2-23a6ca0413fc	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr14:65198857G>C	ENST00000247226.7	+	8	1310	c.1002G>C	c.(1000-1002)aaG>aaC	p.K334N	PLEKHG3_ENST00000394691.1_Missense_Mutation_p.K390N	NM_015549.1	NP_056364.1	A1L390	PKHG3_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 3	390	PH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2)	29				all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)		ACCACATCAAGAGGCTCATCC	0.557													7	77					0	0	1	0	0	C	65198857	G	C	65198857	3	2	118	1	0	0	0	0	1	0	0	0	12118	933	33	4	1028	4	PLEKHG3	14	65198857	Missense_Mutation	SNP	G	TCGA-DU-7304-01A-12D-2086-08	43700100	65198857	42150683	36	20932											
ATP6V1D	51382	broad.mit.edu	37	14	67807223	67807223	+	Missense_Mutation	SNP	C	C	T	rs144396308	byFrequency	TCGA-DU-7304-01A-12D-2086-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f6d3a9-9f7d-4ac3-bef2-23a6ca0413fc	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr14:67807223C>T	ENST00000216442.7	-	8	1086	c.536G>A	c.(535-537)cGg>cAg	p.R179Q	ATP6V1D_ENST00000554236.1_Missense_Mutation_p.G157R|ATP6V1D_ENST00000555431.1_Missense_Mutation_p.R124Q|ATP6V1D_ENST00000555474.1_Missense_Mutation_p.R80Q	NM_015994.3	NP_057078.1	Q9Y5K8	VATD_HUMAN	ATPase, H+ transporting, lysosomal 34kDa, V1 subunit D	179					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|proton-transporting two-sector ATPase complex, catalytic domain|vacuolar proton-transporting V-type ATPase complex	protein binding|proton-transporting ATPase activity, rotational mechanism	p.R179Q(1)		lung(3)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	7				all cancers(60;0.000739)|OV - Ovarian serous cystadenocarcinoma(108;0.00597)|BRCA - Breast invasive adenocarcinoma(234;0.00957)		ACGTTCAATCCGGGGAATGAT	0.328													34	54					0	0	1	0	0	T	67807223	C	T	67807223	3	4	118	1	0	0	0	0	1	0	0	0	1180	652	23	1	215	1	ATP6V1D	14	67807223	Missense_Mutation	SNP	C	TCGA-DU-7304-01A-12D-2086-08	2608366	67807223	39542317	37	20933											
RIN3	79890	broad.mit.edu	37	14	93043731	93043731	+	Silent	SNP	C	C	T			TCGA-DU-7304-01A-12D-2086-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f6d3a9-9f7d-4ac3-bef2-23a6ca0413fc	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr14:93043731C>T	ENST00000216487.7	+	3	435	c.276C>T	c.(274-276)agC>agT	p.S92S	RIN3_ENST00000418924.2_3'UTR	NM_024832.3	NP_079108.3	Q8TB24	RIN3_HUMAN	Ras and Rab interactor 3	92	SH2.				endocytosis|signal transduction	cytoplasmic membrane-bounded vesicle|early endosome	GTPase activator activity|Ras GTPase binding			endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36		all_cancers(154;0.0701)				GGGACAGCAGCTCGAAGCAGC	0.512													5	187					0	0	1	0	0	T	93043731	C	T	93043731	2	4	118	1	0	0	0	0	0	0	0	1	13425	796	28	2		2	RIN3	14	93043731	Silent	SNP	C	TCGA-DU-7304-01A-12D-2086-08	25236508	93043731	14305809	38	20934											
SPTBN5	51332	broad.mit.edu	37	15	42169508	42169508	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-7304-01A-12D-2086-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f6d3a9-9f7d-4ac3-bef2-23a6ca0413fc	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr15:42169508A>G	ENST00000320955.6	-	18	3744	c.3517T>C	c.(3517-3519)Tgc>Cgc	p.C1173R		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	1173					actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		GAGTCTGGGCAGTCCAAGGCT	0.632													7	10					0	0	1	0	0	G	42169508	A	G	42169508	3	3	118	1	0	0	0	0	1	0	0	0	15178	188	7	3	7711	3	SPTBN5	15	42169508	Missense_Mutation	SNP	A	TCGA-DU-7304-01A-12D-2086-08		42169508	60361884	39	20935											
LRRK1	79705	broad.mit.edu	37	15	101565120	101565120	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7304-01A-12D-2086-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f6d3a9-9f7d-4ac3-bef2-23a6ca0413fc	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr15:101565120C>T	ENST00000284395.5	+	17	2571	c.2171C>T	c.(2170-2172)gCg>gTg	p.A724V	LRRK1_ENST00000388948.3_Missense_Mutation_p.A727V			Q38SD2	LRRK1_HUMAN	leucine-rich repeat kinase 1	727	Roc.				small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			TGGAACCTGGCGCTGGGGGAG	0.622													6	233					0	0	1	0	0	T	101565120	C	T	101565120	3	4	118	1	0	0	0	0	1	0	0	0	9077	768	27	1	2238	1	LRRK1	15	101565120	Missense_Mutation	SNP	C	TCGA-DU-7304-01A-12D-2086-08	59395612	101565120	966272	40	20936											
HAS3	3038	broad.mit.edu	37	16	69148261	69148261	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7304-01A-12D-2086-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f6d3a9-9f7d-4ac3-bef2-23a6ca0413fc	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr16:69148261G>A	ENST00000306560.1	+	4	910	c.754G>A	c.(754-756)Gac>Aac	p.D252N	HAS3_ENST00000569188.1_Missense_Mutation_p.D252N|HAS3_ENST00000219322.3_Intron	NM_005329.2	NP_005320.2	O00219	HAS3_HUMAN	hyaluronan synthase 3	252					carbohydrate metabolic process	integral to plasma membrane	hyaluronan synthase activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|urinary_tract(2)	16		Ovarian(137;0.101)		OV - Ovarian serous cystadenocarcinoma(108;0.0694)		CAACAAGTACGACTCATGGAT	0.557													76	115					0	0	1	0	0	A	69148261	G	A	69148261	3	1	118	1	0	0	0	0	1	0	0	0	7004	1058	37	1	764	1	HAS3	16	69148261	Missense_Mutation	SNP	G	TCGA-DU-7304-01A-12D-2086-08		69148261	21206492	41	20937											
TP53	7157	broad.mit.edu	37	17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	rs121913343		TCGA-DU-7304-01A-12D-2086-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f6d3a9-9f7d-4ac3-bef2-23a6ca0413fc	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr17:7577121G>A	ENST00000420246.2	-	8	949	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000413465.2_Intron|TP53_ENST00000269305.4_Missense_Mutation_p.R273C|TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000359597.4_Missense_Mutation_p.R273C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	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).		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.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			22	15					0	0	1	0	0	A	7577121	G	A	7577121	3	1	118	1	0	0	0	0	1	0	0	0	16442	1087	38	1	469	1	TP53	17	7577121	Missense_Mutation	SNP	G	TCGA-DU-7304-01A-12D-2086-08		7577121	73618089	42	20938											
TP53	7157	broad.mit.edu	37	17	7579311	7579311	+	Splice_Site	DEL	C	C	-	rs68140816		TCGA-DU-7304-01A-12D-2086-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f6d3a9-9f7d-4ac3-bef2-23a6ca0413fc	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr17:7579311delC	ENST00000420246.2	-	4	508		c.e4+1		TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000269305.4_Splice_Site|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000413465.2_Splice_Site	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53						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.?(26)|p.0?(8)|p.V73fs*9(1)|p.Y126fs*11(1)|p.P13fs*18(1)|p.T125_Y126insX(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)		GGGCAACTGACCGTGCAAGTC	0.532		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)			47	60	---	---	---	---						-	7579311	C	-	7579311	8	5	118	1	0	1	0	1	0	0	1	0	16442	521	18	0	926	0	TP53	17	7579311	Splice_Site	DEL	C	TCGA-DU-7304-01A-12D-2086-08	2190	7579311	73615899	43	20939											
FLCN	201163	broad.mit.edu	37	17	17117161	17117161	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-7304-01A-12D-2086-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f6d3a9-9f7d-4ac3-bef2-23a6ca0413fc	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr17:17117161C>A	ENST00000285071.4	-	14	2002	c.1548G>T	c.(1546-1548)aaG>aaT	p.K516N	RP11-45M22.4_ENST00000427497.3_Intron	NM_144997.5	NP_659434.2	Q8NFG4	FLCN_HUMAN	folliculin	516					regulation of protein phosphorylation	cytoplasm|nucleus|plasma membrane	protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|stomach(1)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						TAAAAAGCACCTTCACTTTGC	0.542									Familial Non-VHL Clear Cell Renal Cancer;Birt-Hogg-Dub syndrome				4	125					1	1	1	1	0	A	17117161	C	A	17117161	3	1	118	1	0	0	0	0	1	0	0	0	5954	680	24	4	195	4	FLCN	17	17117161	Missense_Mutation	SNP	C	TCGA-DU-7304-01A-12D-2086-08	9537850	17117161	64078049	44	20940											
PNPLA6	10908	broad.mit.edu	37	19	7606923	7606923	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7304-01A-12D-2086-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f6d3a9-9f7d-4ac3-bef2-23a6ca0413fc	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr19:7606923C>T	ENST00000221249.6	+	13	1536	c.1105C>T	c.(1105-1107)Cgc>Tgc	p.R369C	PNPLA6_ENST00000545201.2_Missense_Mutation_p.R369C|PNPLA6_ENST00000450331.3_Missense_Mutation_p.R369C|PNPLA6_ENST00000414982.3_Missense_Mutation_p.R417C|PNPLA6_ENST00000600737.1_Missense_Mutation_p.R408C	NM_006702.4	NP_006693.3	Q8IY17	PLPL6_HUMAN	patatin-like phospholipase domain containing 6	408					cell death|lipid catabolic process|phosphatidylcholine metabolic process	endoplasmic reticulum membrane|integral to membrane	lysophospholipase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						TCTGCTGAGCCGCTGCGTCTC	0.642													26	41					0	0	1	0	0	T	7606923	C	T	7606923	3	4	118	1	0	0	0	0	1	0	0	0	12217	652	23	1	1291	1	PNPLA6	19	7606923	Missense_Mutation	SNP	C	TCGA-DU-7304-01A-12D-2086-08		7606923	51522060	45	20941											
CPAMD8	27151	broad.mit.edu	37	19	17122404	17122404	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7304-01A-12D-2086-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f6d3a9-9f7d-4ac3-bef2-23a6ca0413fc	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr19:17122404C>T	ENST00000443236.1	-	4	603	c.572G>A	c.(571-573)cGa>cAa	p.R191Q	CTD-2528A14.1_ENST00000595134.1_RNA|CPAMD8_ENST00000388925.4_Missense_Mutation_p.R144Q	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	144						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						CCACTCACCTCGGTGCTGGGG	0.602													9	158					0	0	1	0	0	T	17122404	C	T	17122404	3	4	118	1	0	0	0	0	1	0	0	0	3818	884	31	1	5382	1	CPAMD8	19	17122404	Missense_Mutation	SNP	C	TCGA-DU-7304-01A-12D-2086-08	9515481	17122404	42006579	46	20942											
CBY1	25776	broad.mit.edu	37	22	39067165	39067165	+	Missense_Mutation	SNP	G	G	A	rs140554782		TCGA-DU-7304-01A-12D-2086-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f6d3a9-9f7d-4ac3-bef2-23a6ca0413fc	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr22:39067165G>A	ENST00000216029.3	+	4	409	c.275G>A	c.(274-276)cGg>cAg	p.R92Q	RP3-508I15.9_ENST00000444381.1_RNA|RP3-508I15.9_ENST00000431924.2_RNA	NM_015373.3	NP_056188.1	Q9Y3M2	CBY1_HUMAN	chibby homolog 1 (Drosophila)	92	Minimal region for the interaction with PKD2.				cardiac muscle cell differentiation|fat cell differentiation|negative regulation of transcription, DNA-dependent|protein localization	nuclear speck|trans-Golgi network	beta-catenin binding|identical protein binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|ovary(1)	4	Melanoma(58;0.04)					AATCTCTTGCGGCTGAAAGTG	0.562													7	122					0	0	1	0	0	A	39067165	G	A	39067165	3	1	118	1	0	0	0	0	1	0	0	0	2743	1116	39	1	285	1	CBY1	22	39067165	Missense_Mutation	SNP	G	TCGA-DU-7304-01A-12D-2086-08		39067165	12237401	47	20943											
ATRX	546	broad.mit.edu	37	X	76889091	76889091	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DU-7304-01A-12D-2086-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f6d3a9-9f7d-4ac3-bef2-23a6ca0413fc	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chrX:76889091delT	ENST00000373344.5	-	18	5133	c.4919delA	c.(4918-4920)aagfs	p.K1640fs	ATRX_ENST00000395603.3_Frame_Shift_Del_p.K1602fs|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1640	Helicase ATP-binding.				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)	CTCTTGCCACTTCTCAAATTC	0.318			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						46	14	---	---	---	---						-	76889091	T	-	76889091	7	5	118	1	0	1	0	1	0	0	0	0	1206	1609	56	0	2631	0	ATRX	23	76889091	Frame_Shift_Del	DEL	T	TCGA-DU-7304-01A-12D-2086-08		76889091	78381469	48	20944											
MECP2	4204	broad.mit.edu	37	X	153297774	153297774	+	Silent	SNP	G	G	A			TCGA-DU-7304-01A-12D-2086-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f6d3a9-9f7d-4ac3-bef2-23a6ca0413fc	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chrX:153297774G>A	ENST00000303391.6	-	3	510	c.261C>T	c.(259-261)atC>atT	p.I87I	MECP2_ENST00000453960.2_Silent_p.I99I|MECP2_ENST00000407218.1_Silent_p.I87I	NM_004992.3	NP_004983.1	P51608	MECP2_HUMAN	methyl CpG binding protein 2 (Rett syndrome)	87					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	heterochromatin|nucleus	double-stranded methylated DNA binding|protein domain specific binding|protein N-terminus binding|transcription corepressor activity			breast(2)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|prostate(2)|urinary_tract(1)	23	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GGTCACGGATGATGGAGCGCC	0.617													45	12					0	0	1	0	0	A	153297774	G	A	153297774	2	1	118	1	0	0	0	0	0	0	0	1	9473	1280	45	2		2	MECP2	23	153297774	Silent	SNP	G	TCGA-DU-7304-01A-12D-2086-08	76408683	153297774	1972786	49	20945											
VWA1	64856	broad.mit.edu	37	1	1374627	1374627	+	Silent	SNP	G	G	A			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr1:1374627G>A	ENST00000476993.1	+	3	876	c.798G>A	c.(796-798)acG>acA	p.T266T	VWA1_ENST00000338660.5_3'UTR|VWA1_ENST00000404702.3_Silent_p.T54T	NM_022834.4	NP_073745.2	Q6PCB0	VWA1_HUMAN	von Willebrand factor A domain containing 1	266	Fibronectin type-III 1.					basement membrane				NS(1)|breast(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	8	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		GGAACGCCACGGACTGGATCT	0.697													10	14					0	0	1	0	0	A	1374627	G	A	1374627	2	1	119	1	0	0	0	0	0	0	0	1	17298	1103	39	1		1	VWA1	1	1374627	Silent	SNP	G	TCGA-DU-7306-01A-11D-2086-08		1374627	247875994	1	20946											
MFN2	9927	broad.mit.edu	37	1	12071583	12071583	+	Silent	SNP	C	C	T			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr1:12071583C>T	ENST00000235329.5	+	19	2557	c.2235C>T	c.(2233-2235)ctC>ctT	p.L745L	MFN2_ENST00000444836.1_Silent_p.L745L	NM_014874.3	NP_055689.1	O95140	MFN2_HUMAN	mitofusin 2	745					blood coagulation|mitochondrial fusion|mitochondrial membrane organization|mitochondrion localization|negative regulation of Ras protein signal transduction|negative regulation of smooth muscle cell proliferation|protein targeting to mitochondrion	cytosol|integral to membrane|intrinsic to mitochondrial outer membrane	GTP binding|GTPase activity|ubiquitin protein ligase binding			endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	20	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.25e-06)|COAD - Colon adenocarcinoma(227;0.000302)|BRCA - Breast invasive adenocarcinoma(304;0.000329)|Kidney(185;0.000896)|KIRC - Kidney renal clear cell carcinoma(229;0.00274)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)		ACAGTGAGCTCAACATGTTCA	0.537													46	75					0	0	1	0	0	T	12071583	C	T	12071583	2	4	119	1	0	0	0	0	0	0	0	1	9574	813	29	2		2	MFN2	1	12071583	Silent	SNP	C	TCGA-DU-7306-01A-11D-2086-08	10696956	12071583	237179038	2	20947											
PRAMEF4	400735	broad.mit.edu	37	1	12943051	12943051	+	Silent	SNP	C	C	T			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr1:12943051C>T	ENST00000235349.5	-	2	235	c.165G>A	c.(163-165)aaG>aaA	p.K55K		NM_001009611.2	NP_001009611.1	O60810	PRAM4_HUMAN	PRAME family member 4	55										breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(3)|skin(1)	24	Ovarian(185;0.249)	Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GCACCATCAGCTTCAGGGCCT	0.602													5	139					0	0	1	0	0	T	12943051	C	T	12943051	2	4	119	1	0	0	0	0	0	0	0	1	12488	796	28	2		2	PRAMEF4	1	12943051	Silent	SNP	C	TCGA-DU-7306-01A-11D-2086-08	871468	12943051	236307570	3	20948											
NBPF1	55672	broad.mit.edu	37	1	16893743	16893743	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr1:16893743A>G	ENST00000430580.2	-	25	3657	c.2770T>C	c.(2770-2772)Tgc>Cgc	p.C924R	NBPF1_ENST00000432949.1_3'UTR|NBPF1_ENST00000420031.2_3'UTR	NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	924	NBPF 5.					cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TAGGGCTGGCATGAGTCAGTC	0.478													64	1066					0	0	1	0	0	G	16893743	A	G	16893743	3	3	119	1	0	0	0	0	1	0	0	0	10240	217	8	3	674	3	NBPF1	1	16893743	Missense_Mutation	SNP	A	TCGA-DU-7306-01A-11D-2086-08	3950692	16893743	232356878	4	20949											
AHDC1	27245	broad.mit.edu	37	1	27875353	27875355	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr1:27875353_27875355delAGG	ENST00000374011.2	-	6	4240_4242	c.3272_3274delCCT	c.(3271-3276)tccttc>ttc	p.S1091del	AHDC1_ENST00000247087.5_In_Frame_Del_p.S1091del	NM_001029882.2	NP_001025053.1	Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	1091							DNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		GAGGGCTGGAaggaggaggagga	0.665													7	49	---	---	---	---						-	27875355	AGG	-	27875353	7	5	119	1	0	1	0	1	0	0	0	0	409	72	3	0	1541	0	AHDC1	1	27875353	In_Frame_Del	DEL	AGG	TCGA-DU-7306-01A-11D-2086-08	10981610	27875353	221375268	5	20950											
USP24	23358	broad.mit.edu	37	1	55590210	55590210	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr1:55590210C>A	ENST00000294383.6	-	35	4051	c.4052G>T	c.(4051-4053)aGt>aTt	p.S1351I	USP24_ENST00000407756.1_Missense_Mutation_p.S1191I	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN	ubiquitin specific peptidase 24	1351					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						TGGCTGGCTACTCCCAACAAG	0.433													3	37					1	1	1	1	0	A	55590210	C	A	55590210	3	1	119	1	0	0	0	0	1	0	0	0	17115	565	20	4	3946	4	USP24	1	55590210	Missense_Mutation	SNP	C	TCGA-DU-7306-01A-11D-2086-08	27714857	55590210	193660411	6	20951											
JAK1	3716	broad.mit.edu	37	1	65323387	65323387	+	Silent	SNP	G	G	A			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr1:65323387G>A	ENST00000342505.4	-	10	1658	c.1410C>T	c.(1408-1410)acC>acT	p.T470T		NM_002227.2	NP_002218.2	P23458	JAK1_HUMAN	Janus kinase 1	470	SH2.				interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|endomembrane system|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120				BRCA - Breast invasive adenocarcinoma(111;0.0485)		TGTCAAAGTCGGTGCAGCTCC	0.527			Mis		ALL								3	69					0	0	1	0	0	A	65323387	G	A	65323387	2	1	119	1	0	0	0	0	0	0	0	1	7981	1103	39	1		1	JAK1	1	65323387	Silent	SNP	G	TCGA-DU-7306-01A-11D-2086-08	9733177	65323387	183927234	7	20952											
LRRC8D	55144	broad.mit.edu	37	1	90401127	90401127	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr1:90401127C>G	ENST00000337338.5	+	3	2907	c.2500C>G	c.(2500-2502)Ctt>Gtt	p.L834V	LRRC8D_ENST00000394593.3_Missense_Mutation_p.L834V	NM_001134479.1	NP_001127951.1	Q7L1W4	LRC8D_HUMAN	leucine rich repeat containing 8 family, member D	834						integral to membrane	protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(2)|skin(1)	29		all_lung(203;0.0894)|Lung NSC(277;0.227)		all cancers(265;0.0109)|Epithelial(280;0.0427)		GGAAGATCACCTTTTTGATAC	0.478													51	65					0	0	1	0	0	G	90401127	C	G	90401127	3	3	119	1	0	0	0	0	1	0	0	0	9069	681	24	4	2502	4	LRRC8D	1	90401127	Missense_Mutation	SNP	C	TCGA-DU-7306-01A-11D-2086-08	25077740	90401127	158849494	8	20953											
LPPR4	9890	broad.mit.edu	37	1	99753520	99753520	+	Splice_Site	SNP	G	G	C			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr1:99753520G>C	ENST00000370185.3	+	2	719		c.e2-1		LPPR4_ENST00000457765.1_Splice_Site	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN									phosphatidate phosphatase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		TTCATTCTTAGTTGCCTATAT	0.433													5	111					0	0	1	0	0	C	99753520	G	C	99753520	5	2	119	1	0	0	0	0	0	0	1	0	8972	1043	36	4	228	4	LPPR4	1	99753520	Splice_Site	SNP	G	TCGA-DU-7306-01A-11D-2086-08	9352393	99753520	149497101	9	20954											
GJA8	2703	broad.mit.edu	37	1	147381232	147381232	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr1:147381232G>C	ENST00000240986.4	+	2	1203	c.1150G>C	c.(1150-1152)Gaa>Caa	p.E384Q	GJA8_ENST00000369235.1_Missense_Mutation_p.E384Q	NM_005267.4	NP_005258.2	P48165	CXA8_HUMAN	gap junction protein, alpha 8, 50kDa	384					cell communication|visual perception	connexon complex|integral to plasma membrane	channel activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37	all_hematologic(923;0.0276)					GGGTGAAAAAGAAGAGCCGCA	0.582													7	6					0	0	1	0	0	C	147381232	G	C	147381232	3	2	119	1	0	0	0	0	1	0	0	0	6447	943	33	4	1152	4	GJA8	1	147381232	Missense_Mutation	SNP	G	TCGA-DU-7306-01A-11D-2086-08	47627712	147381232	101869389	10	20955											
DENND4B	9909	broad.mit.edu	37	1	153907309	153907309	+	Silent	SNP	C	C	T			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr1:153907309C>T	ENST00000361217.4	-	18	3118	c.2700G>A	c.(2698-2700)caG>caA	p.Q900Q		NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	900	Gln-rich.							p.Q788Q(1)|p.Q900Q(1)		NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			gctgctgttgctgctgctgct	0.642													4	81					0	0	1	0	0	T	153907309	C	T	153907309	2	4	119	1	0	0	0	0	0	0	0	1	4462	796	28	2		2	DENND4B	1	153907309	Silent	SNP	C	TCGA-DU-7306-01A-11D-2086-08	6526077	153907309	95343312	11	20956											
LAMC2	3918	broad.mit.edu	37	1	183201918	183201918	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr1:183201918G>C	ENST00000264144.4	+	14	2211	c.2146G>C	c.(2146-2148)Gtt>Ctt	p.V716L	LAMC2_ENST00000493293.1_Missense_Mutation_p.V716L	NM_005562.2	NP_005553.2	Q13753	LAMC2_HUMAN	laminin, gamma 2	716	Domain II and I.				cell adhesion|epidermis development|hemidesmosome assembly		heparin binding			breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						CCAGAACCGAGTTCGGGATAC	0.522													52	100					0	0	1	0	0	C	183201918	G	C	183201918	3	2	119	1	0	0	0	0	1	0	0	0	8654	1029	36	4	2200	4	LAMC2	1	183201918	Missense_Mutation	SNP	G	TCGA-DU-7306-01A-11D-2086-08	29294609	183201918	66048703	12	20957											
NAV1	89796	broad.mit.edu	37	1	201618190	201618190	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr1:201618190G>C	ENST00000367296.4	+	1	814	c.394G>C	c.(394-396)Gct>Cct	p.A132P	NAV1_ENST00000295624.6_Missense_Mutation_p.A132P|NAV1_ENST00000367297.4_Missense_Mutation_p.A132P|NAV1_ENST00000367302.1_Missense_Mutation_p.A145P|NAV1_ENST00000367300.3_Missense_Mutation_p.A132P	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	132					cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding			breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						GGGCCGTGAAGCTCCGCTGAT	0.647													9	18					0	0	1	0	0	C	201618190	G	C	201618190	3	2	119	1	0	0	0	0	1	0	0	0	10231	971	34	4	396	4	NAV1	1	201618190	Missense_Mutation	SNP	G	TCGA-DU-7306-01A-11D-2086-08	18416272	201618190	47632431	13	20958											
C1orf101	257044	broad.mit.edu	37	1	244773582	244773582	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr1:244773582T>C	ENST00000366534.4	+	19	2498	c.2444T>C	c.(2443-2445)aTt>aCt	p.I815T	C1orf101_ENST00000366533.4_Missense_Mutation_p.I815T|C1orf101_ENST00000473875.1_3'UTR|C1orf101_ENST00000366531.3_Missense_Mutation_p.I664T	NM_001130957.1	NP_001124429.1	Q5SY80	CA101_HUMAN	chromosome 1 open reading frame 101	815						integral to membrane				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	36	all_cancers(71;2.99e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)		all cancers(7;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.001)|GBM - Glioblastoma multiforme(7;0.0154)			AAGTCAATGATTGAACTTAAC	0.388													35	47					0	0	1	0	0	C	244773582	T	C	244773582	3	2	119	1	0	0	0	0	1	0	0	0	1989	1493	52	3	2518	3	C1orf101	1	244773582	Missense_Mutation	SNP	T	TCGA-DU-7306-01A-11D-2086-08	43155392	244773582	4477039	14	20959											
NLRP3	114548	broad.mit.edu	37	1	247608070	247608070	+	Silent	SNP	C	C	G			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr1:247608070C>G	ENST00000366497.2	+	8	3567	c.2787C>G	c.(2785-2787)gtC>gtG	p.V929V	NLRP3_ENST00000366496.2_Silent_p.V929V|NLRP3_ENST00000336119.3_Silent_p.V986V|NLRP3_ENST00000348069.2_Silent_p.V872V|NLRP3_ENST00000391827.2_Silent_p.V929V|NLRP3_ENST00000391828.3_Silent_p.V986V	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	986					detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			ACCTGGGGGTCATGATGTTCT	0.577													4	52					0	0	1	0	0	G	247608070	C	G	247608070	2	3	119	1	0	0	0	0	0	0	0	1	10525	813	29	5		5	NLRP3	1	247608070	Silent	SNP	C	TCGA-DU-7306-01A-11D-2086-08	2834488	247608070	1642551	15	20960											
TRIM58	25893	broad.mit.edu	37	1	248028031	248028031	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr1:248028031C>T	ENST00000366481.3	+	3	589	c.541C>T	c.(541-543)Cgc>Tgc	p.R181C		NM_015431.3	NP_056246.3	Q8NG06	TRI58_HUMAN	tripartite motif containing 58	181						intracellular	zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GCAGAGGCAGCGCTTCAGATT	0.592													15	33					0	0	1	0	0	T	248028031	C	T	248028031	3	4	119	1	0	0	0	0	1	0	0	0	16592	768	27	1	551	1	TRIM58	1	248028031	Missense_Mutation	SNP	C	TCGA-DU-7306-01A-11D-2086-08	419961	248028031	1222590	16	20961											
EPT1	85465	broad.mit.edu	37	2	26587719	26587719	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr2:26587719C>T	ENST00000260585.7	+	3	265	c.146C>T	c.(145-147)gCg>gTg	p.A49V		NM_033505.2	NP_277040.1	Q9C0D9	EPT1_HUMAN	ethanolaminephosphotransferase 1 (CDP-ethanolamine-specific)	49					phospholipid biosynthetic process	integral to membrane	ethanolaminephosphotransferase activity|metal ion binding										ACTTGGCTGGCGCCCAATCTG	0.348													4	71					0	0	1	0	0	T	26587719	C	T	26587719	3	4	119	1	0	0	0	0	1	0	0	0	5227	768	27	1	156	1	EPT1	2	26587719	Missense_Mutation	SNP	C	TCGA-DU-7306-01A-11D-2086-08		26587719	216611654	17	20962											
IL1R1	3554	broad.mit.edu	37	2	102785082	102785082	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr2:102785082T>C	ENST00000410023.1	+	7	998	c.680T>C	c.(679-681)gTg>gCg	p.V227A	IL1R1_ENST00000409589.1_Intron|IL1R1_ENST00000409329.1_Missense_Mutation_p.V227A|IL1R1_ENST00000409929.1_Missense_Mutation_p.V227A|IL1R1_ENST00000424272.1_Missense_Mutation_p.V227A|IL1R1_ENST00000409288.1_Missense_Mutation_p.V227A|IL1R1_ENST00000233946.3_Missense_Mutation_p.V227A			P14778	IL1R1_HUMAN	interleukin 1 receptor, type I	227	Ig-like C2-type 3.				innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity|platelet-derived growth factor receptor binding			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(2)|skin(3)	19					Anakinra(DB00026)	ACAAGGCCTGTGATTGTGAGC	0.398													12	138					0	0	1	0	0	C	102785082	T	C	102785082	3	2	119	1	0	0	0	0	1	0	0	0	7702	1696	59	3	698	3	IL1R1	2	102785082	Missense_Mutation	SNP	T	TCGA-DU-7306-01A-11D-2086-08	76197363	102785082	140414291	18	20963											
CXCR4	7852	broad.mit.edu	37	2	136872470	136872470	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr2:136872470T>C	ENST00000409817.1	-	1	1343	c.1040A>G	c.(1039-1041)gAg>gGg	p.E347G	CXCR4_ENST00000466288.1_5'UTR|CXCR4_ENST00000241393.3_Missense_Mutation_p.E343G	NM_001008540.1	NP_001008540.1	P61073	CXCR4_HUMAN	chemokine (C-X-C motif) receptor 4	343					activation of MAPK activity|apoptosis|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|entry into host cell|inflammatory response|initiation of viral infection|regulation of chemotaxis|response to hypoxia|response to virus	cell leading edge|cell surface|cytoplasmic membrane-bounded vesicle|integral to membrane|plasma membrane	actin binding|C-X-C chemokine receptor activity|coreceptor activity|myosin light chain binding|ubiquitin binding|ubiquitin protein ligase binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.155)	Framycetin(DB00452)	AGACTCAGACTCAGTGGAAAC	0.403													8	9					0	0	1	0	0	C	136872470	T	C	136872470	3	2	119	1	0	0	0	0	1	0	0	0	4116	1551	54	3	34	3	CXCR4	2	136872470	Missense_Mutation	SNP	T	TCGA-DU-7306-01A-11D-2086-08	34087388	136872470	106326903	19	20964											
ITGB6	3694	broad.mit.edu	37	2	160982991	160982991	+	Silent	SNP	G	G	A			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr2:160982991G>A	ENST00000283249.2	-	11	2019	c.1782C>T	c.(1780-1782)cgC>cgT	p.R594R	ITGB6_ENST00000428609.2_Silent_p.R552R|ITGB6_ENST00000409872.1_Silent_p.R594R|ITGB6_ENST00000409967.2_Intron	NM_001282353.1|NM_001282354.1|NM_001282388.1	NP_001269282.1|NP_001269283.1|NP_001269317.1	P18564	ITB6_HUMAN	integrin, beta 6	594	Cysteine-rich tandem repeats.				cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|multicellular organismal development	integrin complex	receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						CACAGTCCCCGCGCCCGCTGC	0.577													6	99					0	0	1	0	0	A	160982991	G	A	160982991	2	1	119	1	0	0	0	0	0	0	0	1	7943	1074	38	1		1	ITGB6	2	160982991	Silent	SNP	G	TCGA-DU-7306-01A-11D-2086-08	24110521	160982991	82216382	20	20965											
TTN	7273	broad.mit.edu	37	2	179495026	179495026	+	Silent	SNP	C	C	T			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr2:179495026C>T	ENST00000589042.1	-	239	44447	c.44223G>A	c.(44221-44223)acG>acA	p.T14741T	TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000460472.2_Silent_p.T5676T|TTN_ENST00000359218.5_Silent_p.T5801T|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Silent_p.T5868T|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000591111.1_Silent_p.T13100T|TTN_ENST00000342992.6_Silent_p.T12173T	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	13100	Fibronectin type-III 6.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCACCCCACCCGTCTGGTCCA	0.398													33	47					0	0	1	0	0	T	179495026	C	T	179495026	2	4	119	1	0	0	0	0	0	0	0	1	16797	639	23	1		1	TTN	2	179495026	Silent	SNP	C	TCGA-DU-7306-01A-11D-2086-08	18512035	179495026	63704347	21	20966											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								31	61					0	0	1	0	0	T	209113112	C	T	209113112	3	4	119	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-DU-7306-01A-11D-2086-08	29618086	209113112	34086261	22	20967											
UGT1A1	54658	broad.mit.edu	37	2	234622136	234622136	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr2:234622136A>T	ENST00000608381.1	+	1	499	c.499A>T	c.(499-501)Att>Ttt	p.I167F	UGT1A6_ENST00000406651.1_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A1_ENST00000373450.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A1_ENST00000609637.1_Intron|UGT1A5_ENST00000373414.3_Missense_Mutation_p.I167F|UGT1A6_ENST00000373424.1_Intron	NM_019078.1	NP_061951.1	P22309	UD11_HUMAN							bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding			breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)	GTACCTGTCGATTCCTGCTGT	0.478													8	226					0	0	1	0	0	T	234622136	A	T	234622136	3	4	119	1	0	0	0	0	1	0	0	0	17004	333	12	4		4	UGT1A1	2	234622136	Missense_Mutation	SNP	A	TCGA-DU-7306-01A-11D-2086-08	25509024	234622136	8577237	23	20968											
CNTN4	152330	broad.mit.edu	37	3	3078909	3078909	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr3:3078909delT	ENST00000397461.1	+	17	2373	c.1989delT	c.(1987-1989)ggtfs	p.G663fs	CNTN4_ENST00000418658.1_Frame_Shift_Del_p.G663fs|CNTN4_ENST00000397459.2_Frame_Shift_Del_p.G335fs|CNTN4_ENST00000358480.3_Frame_Shift_Del_p.G444fs|CNTN4_ENST00000427331.1_Frame_Shift_Del_p.G663fs|CNTN4_ENST00000448906.2_Frame_Shift_Del_p.G335fs	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	663	Fibronectin type-III 1.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		CCGTGGTGGGTTTGAACCCTT	0.502													12	319	---	---	---	---						-	3078909	T	-	3078909	7	5	119	1	0	1	0	1	0	0	0	0	3666	1712	60	0	2047	0	CNTN4	3	3078909	Frame_Shift_Del	DEL	T	TCGA-DU-7306-01A-11D-2086-08		3078909	194943521	24	20969			1	7		2	2	23	N	T_G	5.685193e-05
CNTN4	152330	broad.mit.edu	37	3	3078931	3078931	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr3:3078931G>C	ENST00000397461.1	+	17	2395	c.2011G>C	c.(2011-2013)Gaa>Caa	p.E671Q	CNTN4_ENST00000427331.1_Missense_Mutation_p.E671Q|CNTN4_ENST00000418658.1_Missense_Mutation_p.E671Q|CNTN4_ENST00000448906.2_Missense_Mutation_p.E343Q|CNTN4_ENST00000397459.2_Missense_Mutation_p.E343Q|CNTN4_ENST00000358480.3_Missense_Mutation_p.E452Q	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	671	Fibronectin type-III 1.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding	p.E343Q(1)|p.E671Q(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		GGTTGAATATGAATTCCGCAC	0.522													9	286					0	0	1	0	0	C	3078931	G	C	3078931	3	2	119	1	0	0	0	0	1	0	0	0	3666	1291	45	5	2069	5	CNTN4	3	3078931	Missense_Mutation	SNP	G	TCGA-DU-7306-01A-11D-2086-08	22	3078931	194943499	25	20970			1	7		2	2	23	N	T_G	5.685193e-05
RAD54L2	23132	broad.mit.edu	37	3	51663382	51663382	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr3:51663382T>C	ENST00000409535.2	+	4	499	c.374T>C	c.(373-375)gTt>gCt	p.V125A		NM_015106.2	NP_055921.2	Q9Y4B4	ARIP4_HUMAN	RAD54-like 2 (S. cerevisiae)							nucleus	ATP binding|DNA binding|helicase activity			NS(2)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|liver(2)|lung(9)|ovary(4)|skin(2)	31				BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896)		TTGGAGCCTGTTACCAAAGCA	0.463													5	7					0	0	1	0	0	C	51663382	T	C	51663382	3	2	119	1	0	0	0	0	1	0	0	0	13046	1725	60	3	384	3	RAD54L2	3	51663382	Missense_Mutation	SNP	T	TCGA-DU-7306-01A-11D-2086-08	48584451	51663382	146359048	26	20971											
ABHD10	55347	broad.mit.edu	37	3	111705808	111705808	+	Silent	SNP	A	A	C			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr3:111705808A>C	ENST00000273359.3	+	4	513	c.486A>C	c.(484-486)gcA>gcC	p.A162A	ABHD10_ENST00000534857.1_Silent_p.A5A|ABHD10_ENST00000494817.1_Silent_p.A162A	NM_018394.2	NP_060864.1	Q9NUJ1	ABHDA_HUMAN	abhydrolase domain containing 10	162						mitochondrion	serine-type peptidase activity			large_intestine(2)|lung(7)|skin(1)	10						TTCATGCTGCAATTGCACGAC	0.383													34	61					0	0	1	0	0	C	111705808	A	C	111705808	2	2	119	1	0	0	0	0	0	0	0	1	74	117	5	5		5	ABHD10	3	111705808	Silent	SNP	A	TCGA-DU-7306-01A-11D-2086-08	60042426	111705808	86316622	27	20972											
ZDHHC23	254887	broad.mit.edu	37	3	113677375	113677375	+	Silent	SNP	C	C	T			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr3:113677375C>T	ENST00000330212.3	+	5	1505	c.1206C>T	c.(1204-1206)atC>atT	p.I402I	ZDHHC23_ENST00000498275.1_Silent_p.I396I|ZDHHC23_ENST00000488129.1_3'UTR	NM_173570.3	NP_775841.2	Q8IYP9	ZDH23_HUMAN	zinc finger, DHHC-type containing 23	402						integral to membrane	acyltransferase activity|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|urinary_tract(2)	16						GCGGGCTCATCGTGGACACAG	0.602													17	34					0	0	1	0	0	T	113677375	C	T	113677375	2	4	119	1	0	0	0	0	0	0	0	1	17672	874	31	1		1	ZDHHC23	3	113677375	Silent	SNP	C	TCGA-DU-7306-01A-11D-2086-08	1971567	113677375	84345055	28	20973											
GOLGB1	2804	broad.mit.edu	37	3	121409831	121409831	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr3:121409831C>T	ENST00000393667.3	-	14	8490	c.8380G>A	c.(8380-8382)Gcc>Acc	p.A2794T	GOLGB1_ENST00000340645.5_Missense_Mutation_p.A2789T	NM_001256486.1	NP_001243415.1	Q14789	GOGB1_HUMAN	golgin B1	2789					Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding	p.A2789T(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		ATTGAAAAGGCGGTTTCAGAA	0.423													26	37					0	0	1	0	0	T	121409831	C	T	121409831	3	4	119	1	0	0	0	0	1	0	0	0	6604	768	27	1	1450	1	GOLGB1	3	121409831	Missense_Mutation	SNP	C	TCGA-DU-7306-01A-11D-2086-08	7732456	121409831	76612599	29	20974											
AFM	173	broad.mit.edu	37	4	74361141	74361141	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr4:74361141C>T	ENST00000226355.3	+	9	1276	c.1183C>T	c.(1183-1185)Cgt>Tgt	p.R395C		NM_001133.2	NP_001124.1	P43652	AFAM_HUMAN	afamin	395	Albumin 2.		R -> H (in dbSNP:rs41265665).		vitamin transport		vitamin E binding			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	Breast(15;0.00102)		Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			AGGTTGTTACCGTTACGCGGT	0.388													4	67					0	0	1	0	0	T	74361141	C	T	74361141	3	4	119	1	0	0	0	0	1	0	0	0	360	652	23	1	1217	1	AFM	4	74361141	Missense_Mutation	SNP	C	TCGA-DU-7306-01A-11D-2086-08		74361141	116793135	30	20975											
TIGD2	166815	broad.mit.edu	37	4	90035215	90035215	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr4:90035215G>T	ENST00000317005.2	+	1	1248	c.1090G>T	c.(1090-1092)Gat>Tat	p.D364Y		NM_145715.2	NP_663761.1	Q4W5G0	TIGD2_HUMAN	tigger transposable element derived 2	364	DDE.				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	14		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;3.86e-05)		GACAGTGTTGGATGCAATTTA	0.378													27	43					4.65686e-17	5.02941e-17	1	1	0	T	90035215	G	T	90035215	3	4	119	1	0	0	0	0	1	0	0	0	15956	1174	41	5	1092	5	TIGD2	4	90035215	Missense_Mutation	SNP	G	TCGA-DU-7306-01A-11D-2086-08	15674074	90035215	101119061	31	20976											
SEC24B	10427	broad.mit.edu	37	4	110445986	110445986	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr4:110445986C>G	ENST00000265175.5	+	15	2576	c.2521C>G	c.(2521-2523)Ctt>Gtt	p.L841V	SEC24B_ENST00000399100.2_Missense_Mutation_p.L806V|SEC24B_ENST00000504968.2_Missense_Mutation_p.L871V	NM_006323.2	NP_006314.2	O95487	SC24B_HUMAN	SEC24 family member B	841					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|transporter activity|zinc ion binding			breast(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)		GGTACAACATCTTGGCCCTGC	0.363													5	97					0	0	1	0	0	G	110445986	C	G	110445986	3	3	119	1	0	0	0	0	1	0	0	0	14049	913	32	4	2579	4	SEC24B	4	110445986	Missense_Mutation	SNP	C	TCGA-DU-7306-01A-11D-2086-08	20410771	110445986	80708290	32	20977											
FHDC1	85462	broad.mit.edu	37	4	153896041	153896041	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr4:153896041C>T	ENST00000511601.1	+	12	1786	c.1598C>T	c.(1597-1599)cCc>cTc	p.P533L	FHDC1_ENST00000260008.3_Missense_Mutation_p.P533L			Q9C0D6	FHDC1_HUMAN	FH2 domain containing 1	533					actin cytoskeleton organization		actin binding		ARFIP1/FHDC1(2)	NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43	all_hematologic(180;0.093)					TCCTACCGGCCCCCGAACACC	0.667													9	16					0	0	1	0	0	T	153896041	C	T	153896041	3	4	119	1	0	0	0	0	1	0	0	0	5909	623	22	2	1640	2	FHDC1	4	153896041	Missense_Mutation	SNP	C	TCGA-DU-7306-01A-11D-2086-08	43450055	153896041	37258235	33	20978											
FTMT	94033	broad.mit.edu	37	5	121187709	121187709	+	Silent	SNP	G	G	A			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr5:121187709G>A	ENST00000321339.1	+	1	60	c.51G>A	c.(49-51)gcG>gcA	p.A17A		NM_177478.1	NP_803431.1	Q8N4E7	FTMT_HUMAN	ferritin mitochondrial	17					cellular iron ion homeostasis|iron ion transport|positive regulation of cell proliferation|positive regulation of lyase activity|positive regulation of oxidoreductase activity|positive regulation of transferase activity	mitochondrion	ferric iron binding|ferroxidase activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	33		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027)		CTTCGCTGGCGTCTCTGCGCC	0.726													3	45					0	0	1	0	0	A	121187709	G	A	121187709	2	1	119	1	0	0	0	0	0	0	0	1	6120	1132	40	1		1	FTMT	5	121187709	Silent	SNP	G	TCGA-DU-7306-01A-11D-2086-08		121187709	59727551	34	20979											
RNF14	9604	broad.mit.edu	37	5	141353304	141353304	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr5:141353304A>G	ENST00000394520.2	+	3	460	c.151A>G	c.(151-153)Agc>Ggc	p.S51G	AC005740.5_ENST00000520882.1_RNA|RNF14_ENST00000502341.1_3'UTR|RNF14_ENST00000394514.2_5'UTR|RNF14_ENST00000540015.1_Missense_Mutation_p.S51G|RNF14_ENST00000347642.3_Missense_Mutation_p.S51G|RNF14_ENST00000356143.1_Missense_Mutation_p.S51G|RNF14_ENST00000394515.3_Missense_Mutation_p.S51G|RNF14_ENST00000394519.1_Missense_Mutation_p.S51G	NM_001201365.1|NM_004290.4	NP_001188294.1|NP_004281.1	Q9UBS8	RNF14_HUMAN	ring finger protein 14	51	RWD.				androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|protein ubiquitination|regulation of androgen receptor signaling pathway|regulation of transcription from RNA polymerase II promoter|response to estradiol stimulus|transcription, DNA-dependent	cytoplasm|nucleus	androgen receptor binding|small conjugating protein ligase activity|transcription coactivator activity|zinc ion binding			cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15		all_hematologic(541;0.0536)|Ovarian(839;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.0407)		GATATTTGTGAGCGGTTAGTT	0.308													4	66					0	0	1	0	0	G	141353304	A	G	141353304	3	3	119	1	0	0	0	0	1	0	0	0	13495	304	11	3	153	3	RNF14	5	141353304	Missense_Mutation	SNP	A	TCGA-DU-7306-01A-11D-2086-08	20165595	141353304	39561956	35	20980											
ABCF1	23	broad.mit.edu	37	6	30558337	30558337	+	Silent	SNP	C	C	G			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr6:30558337C>G	ENST00000326195.8	+	25	2509	c.2397C>G	c.(2395-2397)gcC>gcG	p.A799A	ABCF1_ENST00000376545.3_Silent_p.A761A|ABCF1_ENST00000396515.4_Silent_p.A192A	NM_001025091.1	NP_001020262.1	Q8NE71	ABCF1_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 1	799	ABC transporter 2.				inflammatory response|translational initiation	nuclear envelope|nucleoplasm|polysomal ribosome	ATP binding|ATPase activity|protein binding|ribosome binding|translation activator activity|translation factor activity, nucleic acid binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|skin(2)	21						GCCATGATGCCCGACTCATCA	0.488													14	492					0	0	1	0	0	G	30558337	C	G	30558337	2	3	119	1	0	0	0	0	0	0	0	1	65	610	22	5		5	ABCF1	6	30558337	Silent	SNP	C	TCGA-DU-7306-01A-11D-2086-08		30558337	140556730	36	20981											
FAM83B	222584	broad.mit.edu	37	6	54806708	54806708	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr6:54806708A>G	ENST00000306858.7	+	5	3055	c.2939A>G	c.(2938-2940)aAt>aGt	p.N980S		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	980										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					CCATTGCTTAATTACAACACT	0.368													6	70					0	0	1	0	0	G	54806708	A	G	54806708	3	3	119	1	0	0	0	0	1	0	0	0	5666	101	4	3	2953	3	FAM83B	6	54806708	Missense_Mutation	SNP	A	TCGA-DU-7306-01A-11D-2086-08	24248371	54806708	116308359	37	20982											
ANKRD6	22881	broad.mit.edu	37	6	90312803	90312803	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr6:90312803C>T	ENST00000369408.5	+	4	624	c.275C>T	c.(274-276)gCg>gTg	p.A92V	ANKRD6_ENST00000339746.4_Missense_Mutation_p.A92V|ANKRD6_ENST00000485637.1_Missense_Mutation_p.A92V|ANKRD6_ENST00000520886.2_3'UTR|ANKRD6_ENST00000447838.2_Missense_Mutation_p.A92V|ANKRD6_ENST00000522441.1_Missense_Mutation_p.A92V|ANKRD6_ENST00000520793.1_Missense_Mutation_p.A92V	NM_001242813.1	NP_001229742.1	Q9Y2G4	ANKR6_HUMAN	ankyrin repeat domain 6	92							protein binding			NS(1)|endometrium(3)|large_intestine(7)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|stomach(2)	21		all_cancers(76;1.22e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;1.83e-05)|Lung NSC(302;0.239)		BRCA - Breast invasive adenocarcinoma(108;0.0209)		GAGATCATCGCGGCGCTCATC	0.612													9	14					0	0	1	0	0	T	90312803	C	T	90312803	3	4	119	1	0	0	0	0	1	0	0	0	679	768	27	1	285	1	ANKRD6	6	90312803	Missense_Mutation	SNP	C	TCGA-DU-7306-01A-11D-2086-08	35506095	90312803	80802264	38	20983											
AIM1	202	broad.mit.edu	37	6	107009224	107009224	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr6:107009224T>C	ENST00000369066.3	+	18	5250	c.4763T>C	c.(4762-4764)aTt>aCt	p.I1588T	AIM1_ENST00000535438.1_Missense_Mutation_p.I407T	NM_001624.2	NP_001615	Q9Y4K1	AIM1_HUMAN	absent in melanoma 1	1588	Ricin B-type lectin.						sugar binding			breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		TAGAAGCGAATTTATTTCAGA	0.418													5	73					0	0	1	0	0	C	107009224	T	C	107009224	3	2	119	1	0	0	0	0	1	0	0	0	427	1493	52	3	4833	3	AIM1	6	107009224	Missense_Mutation	SNP	T	TCGA-DU-7306-01A-11D-2086-08	16696421	107009224	64105843	39	20984											
TRDN	10345	broad.mit.edu	37	6	123687319	123687319	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr6:123687319G>A	ENST00000334268.4	-	20	1599	c.1282C>T	c.(1282-1284)Cga>Tga	p.R428*	TRDN_ENST00000398178.3_Nonsense_Mutation_p.R428*			Q13061	TRDN_HUMAN	triadin	428					muscle contraction	integral to membrane|plasma membrane|sarcoplasmic reticulum membrane	receptor binding	p.R428*(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	41				GBM - Glioblastoma multiforme(226;0.184)		TCTTTGGCTCGTTCAGTTTCT	0.303													5	22					0	0	1	0	0	A	123687319	G	A	123687319	4	1	119	1	0	0	0	0	0	1	0	0	16529	1153	40	1	995	1	TRDN	6	123687319	Nonsense_Mutation	SNP	G	TCGA-DU-7306-01A-11D-2086-08	16678095	123687319	47427748	40	20985											
MYB	4602	broad.mit.edu	37	6	135522782	135522782	+	Silent	SNP	A	A	G			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr6:135522782A>G	ENST00000341911.5	+	14	2155	c.1956A>G	c.(1954-1956)gaA>gaG	p.E652E	MYB_ENST00000528774.1_Silent_p.E649E|MYB_ENST00000531845.1_3'UTR|MYB_ENST00000525369.1_Silent_p.E446E|MYB_ENST00000534044.1_Intron|MYB_ENST00000442647.2_Silent_p.E528E|MYB_ENST00000527615.1_Silent_p.E531E|MYB_ENST00000534121.1_Silent_p.E636E|MYB_ENST00000533624.1_Silent_p.E496E|MYB_ENST00000316528.8_Silent_p.E531E|MYB_ENST00000367814.4_Silent_p.E531E	NM_001130173.1|NM_001161656.1|NM_001161658.1	NP_001123645.1|NP_001155128.1|NP_001155130.1	P10242	MYB_HUMAN	v-myb avian myeloblastosis viral oncogene homolog	538					blood coagulation|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of histone H3-K4 methylation|positive regulation of histone H3-K9 methylation|positive regulation of T-helper cell differentiation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear matrix	DNA binding|protein binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	all_epithelial(2;0.109)|Breast(56;0.158)|Colorectal(23;0.221)	Lung NSC(302;3.08e-05)|Ovarian(999;0.208)		OV - Ovarian serous cystadenocarcinoma(155;0.0079)|GBM - Glioblastoma multiforme(68;0.0117)		TTTAGGTGGAATCTCCAACTG	0.438			T	NFIB	adenoid cystic carcinoma								3	38					0	0	1	0	0	G	135522782	A	G	135522782	2	3	119	1	0	0	0	0	0	0	0	1	10055	98	4	3		3	MYB	6	135522782	Silent	SNP	A	TCGA-DU-7306-01A-11D-2086-08	11835463	135522782	35592285	41	20986											
ASB4	51666	broad.mit.edu	37	7	95165776	95165776	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr7:95165776A>G	ENST00000325885.5	+	4	1077	c.1006A>G	c.(1006-1008)Aaa>Gaa	p.K336E		NM_016116.2	NP_057200.1	Q9Y574	ASB4_HUMAN	ankyrin repeat and SOCS box containing 4	336					intracellular signal transduction					central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|pancreas(1)|prostate(1)|skin(2)	20	all_cancers(62;2.27e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.218)|all_lung(186;0.246)		STAD - Stomach adenocarcinoma(171;0.0151)			TTCTTGTCCTAAAGCAATTGA	0.423													24	61					0	0	1	0	0	G	95165776	A	G	95165776	3	3	119	1	0	0	0	0	1	0	0	0	1024	363	13	3	1092	3	ASB4	7	95165776	Missense_Mutation	SNP	A	TCGA-DU-7306-01A-11D-2086-08		95165776	63972887	42	20987											
STAG3	10734	broad.mit.edu	37	7	99811425	99811425	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr7:99811425T>C	ENST00000426455.1	+	33	4072	c.3665T>C	c.(3664-3666)aTt>aCt	p.I1222T	STAG3_ENST00000317296.5_Missense_Mutation_p.I1222T|STAG3_ENST00000394018.2_Missense_Mutation_p.I1164T|STAG3_ENST00000440830.1_3'UTR|GATS_ENST00000543273.1_RNA|GATS_ENST00000436886.2_Intron	NM_001282716.1	NP_001269645.1	Q9UJ98	STAG3_HUMAN	stromal antigen 3	1222					chromosome segregation|synaptonemal complex assembly	chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex	binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	66	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GAGCTGGATATTGAGGTGAGT	0.517													44	149					0	0	1	0	0	C	99811425	T	C	99811425	3	2	119	1	0	0	0	0	1	0	0	0	15300	1493	52	3	3791	3	STAG3	7	99811425	Missense_Mutation	SNP	T	TCGA-DU-7306-01A-11D-2086-08	4645649	99811425	59327238	43	20988											
TMEM168	64418	broad.mit.edu	37	7	112424325	112424325	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr7:112424325C>A	ENST00000312814.6	-	2	1116	c.556G>T	c.(556-558)Gct>Tct	p.A186S	TMEM168_ENST00000454074.1_Missense_Mutation_p.A186S	NM_022484.4	NP_071929.3	Q9H0V1	TM168_HUMAN	transmembrane protein 168							integral to membrane|transport vesicle				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|stomach(1)	32						ATAGCCAGAGCTACAACAAGC	0.363													4	108					0.184627	0.186353	1	1	0	A	112424325	C	A	112424325	3	1	119	1	0	0	0	0	1	0	0	0	16143	797	28	4	1553	4	TMEM168	7	112424325	Missense_Mutation	SNP	C	TCGA-DU-7306-01A-11D-2086-08	12612900	112424325	46714338	44	20989											
CHD7	55636	broad.mit.edu	37	8	61654055	61654055	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr8:61654055G>C	ENST00000423902.2	+	2	543	c.64G>C	c.(64-66)Gaa>Caa	p.E22Q	CHD7_ENST00000525508.1_Missense_Mutation_p.E22Q|CHD7_ENST00000524602.1_Missense_Mutation_p.E22Q	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	22					central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			TGAAGGTCTTGAAGGCCTCGG	0.478													11	11					0	0	1	0	0	C	61654055	G	C	61654055	3	2	119	1	0	0	0	0	1	0	0	0	3352	1291	45	5	66	5	CHD7	8	61654055	Missense_Mutation	SNP	G	TCGA-DU-7306-01A-11D-2086-08		61654055	84709967	45	20990											
CCNE2	9134	broad.mit.edu	37	8	95906307	95906307	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr8:95906307T>C	ENST00000520509.1	-	3	307	c.55A>G	c.(55-57)Acg>Gcg	p.T19A	CCNE2_ENST00000308108.4_Missense_Mutation_p.T19A|CCNE2_ENST00000396133.3_Missense_Mutation_p.T19A			O96020	CCNE2_HUMAN	cyclin E2	19					cell cycle checkpoint|cell division|G1/S transition of mitotic cell cycle|regulation of cyclin-dependent protein kinase activity	cytosol|nucleoplasm	protein kinase binding			cervix(1)|endometrium(2)|large_intestine(3)|lung(4)|prostate(1)	11	Breast(36;8.75e-07)					GGGGATTCCGTCTGGCTGGGC	0.453													9	173					0	0	1	0	0	C	95906307	T	C	95906307	3	2	119	1	0	0	0	0	1	0	0	0	2943	1667	58	3	1199	3	CCNE2	8	95906307	Missense_Mutation	SNP	T	TCGA-DU-7306-01A-11D-2086-08	34252252	95906307	50457715	46	20991											
ATAD2	29028	broad.mit.edu	37	8	124359562	124359562	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr8:124359562G>C	ENST00000287394.5	-	16	2089	c.1982C>G	c.(1981-1983)aCt>aGt	p.T661S	ATAD2_ENST00000521903.1_5'UTR	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	661					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			TTTCTCACTAGTGGTATAGAT	0.423													29	95					0	0	1	0	0	C	124359562	G	C	124359562	3	2	119	1	0	0	0	0	1	0	0	0	1070	1029	36	4	2242	4	ATAD2	8	124359562	Missense_Mutation	SNP	G	TCGA-DU-7306-01A-11D-2086-08	28453255	124359562	22004460	47	20992											
KLHL38	340359	broad.mit.edu	37	8	124664240	124664240	+	Silent	SNP	G	G	A			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr8:124664240G>A	ENST00000325995.7	-	1	950	c.927C>T	c.(925-927)acC>acT	p.T309T	CTD-2552K11.2_ENST00000524355.1_RNA	NM_001081675.2	NP_001075144.2	Q2WGJ6	KLH38_HUMAN	kelch-like family member 38	309										breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1)	38						GCCATTGGCCGGTCTGTTTGC	0.572													4	107					0	0	1	0	0	A	124664240	G	A	124664240	2	1	119	1	0	0	0	0	0	0	0	1	8433	1103	39	1		1	KLHL38	8	124664240	Silent	SNP	G	TCGA-DU-7306-01A-11D-2086-08	304678	124664240	21699782	48	20993											
KIAA1432	57589	broad.mit.edu	37	9	5769212	5769212	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr9:5769212C>A	ENST00000414202.2	+	22	3571	c.3380C>A	c.(3379-3381)gCc>gAc	p.A1127D	KIAA1432_ENST00000251879.6_Missense_Mutation_p.A1127D|KIAA1432_ENST00000381532.2_Missense_Mutation_p.A1048D|KIAA1432_ENST00000418622.3_Missense_Mutation_p.A1048D|KIAA1432_ENST00000449720.2_Missense_Mutation_p.A1011D	NM_001206557.1|NM_020829.3	NP_001193486.1|NP_065880.2	Q4ADV7	RIC1_HUMAN	KIAA1432	1127						integral to membrane				breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1)	45		Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)		ATCATCCCAGCCTCTTCTATC	0.438													29	184					4.74835e-14	5.07745e-14	1	1	0	A	5769212	C	A	5769212	3	1	119	1	0	0	0	0	1	0	0	0	8275	739	26	5	3225	5	KIAA1432	9	5769212	Missense_Mutation	SNP	C	TCGA-DU-7306-01A-11D-2086-08		5769212	135444219	49	20994											
ZNF462	58499	broad.mit.edu	37	9	109690957	109690957	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr9:109690957delT	ENST00000277225.5	+	3	5053	c.4764delT	c.(4762-4764)actfs	p.T1588fs	ZNF462_ENST00000441147.2_Frame_Shift_Del_p.T433fs|ZNF462_ENST00000457913.1_Frame_Shift_Del_p.T1588fs			Q96JM2	ZN462_HUMAN	zinc finger protein 462	1588					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						CACACGGCACTTTGGAGAAAC	0.532													46	69	---	---	---	---						-	109690957	T	-	109690957	7	5	119	1	0	1	0	1	0	0	0	0	17983	1596	56	0	4770	0	ZNF462	9	109690957	Frame_Shift_Del	DEL	T	TCGA-DU-7306-01A-11D-2086-08	103921745	109690957	31522474	50	20995											
RXRA	6256	broad.mit.edu	37	9	137293638	137293638	+	Silent	SNP	G	G	A			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr9:137293638G>A	ENST00000481739.1	+	2	241	c.189G>A	c.(187-189)ccG>ccA	p.P63P	RXRA_ENST00000356384.4_3'UTR	NM_002957.4	NP_002948.1	P19793	RXRA_HUMAN	retinoid X receptor, alpha	63	Modulating (By similarity).				cellular lipid metabolic process|cholesterol metabolic process|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid|vitamin metabolic process	nuclear chromatin|nucleoplasm	enzyme binding|ligand-regulated transcription factor activity|protein heterodimerization activity|retinoic acid-responsive element binding|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|transcription coactivator activity|vitamin D receptor binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19				OV - Ovarian serous cystadenocarcinoma(145;4.66e-08)|Epithelial(140;6.72e-08)|all cancers(34;2.22e-07)	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)	GCATGGGCCCGCCTTTCTCGG	0.697													77	113					0	0	1	0	0	A	137293638	G	A	137293638	2	1	119	1	0	0	0	0	0	0	0	1	13815	1074	38	1		1	RXRA	9	137293638	Silent	SNP	G	TCGA-DU-7306-01A-11D-2086-08	27602681	137293638	3919793	51	20996											
CACNA1B	774	broad.mit.edu	37	9	140772650	140772650	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr9:140772650A>G	ENST00000371372.1	+	1	410	c.265A>G	c.(265-267)Aag>Gag	p.K89E	RP11-188C12.3_ENST00000371390.1_RNA|CACNA1B_ENST00000371363.1_Missense_Mutation_p.K89E|CACNA1B_ENST00000277551.2_Missense_Mutation_p.K89E|CACNA1B_ENST00000371355.4_Missense_Mutation_p.K89E|CACNA1B_ENST00000371357.1_Missense_Mutation_p.K89E|CACNA1B_ENST00000277549.5_5'UTR	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	89					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	CAAATACGCGAAGCGCATCAC	0.701													4	38					0	0	1	0	0	G	140772650	A	G	140772650	3	3	119	1	0	0	0	0	1	0	0	0	2557	247	9	3	267	3	CACNA1B	9	140772650	Missense_Mutation	SNP	A	TCGA-DU-7306-01A-11D-2086-08	3479012	140772650	440781	52	20997											
ADARB2	105	broad.mit.edu	37	10	1405926	1405926	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr10:1405926G>A	ENST00000381312.1	-	3	699	c.374C>T	c.(373-375)gCg>gTg	p.A125V		NM_018702.3	NP_061172.1	Q9NS39	RED2_HUMAN	adenosine deaminase, RNA-specific, B2 (non-functional)	125	DRBM 1.				mRNA processing	mitochondrion|nucleus	adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	41		all_epithelial(10;0.059)|Colorectal(49;0.0815)		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)		GTTCTTGGGCGCCACCGACCA	0.692													32	28					0	0	1	0	0	A	1405926	G	A	1405926	3	1	119	1	0	0	0	0	1	0	0	0	282	1087	38	1	1877	1	ADARB2	10	1405926	Missense_Mutation	SNP	G	TCGA-DU-7306-01A-11D-2086-08		1405926	134128821	53	20998											
OR4C11	219429	broad.mit.edu	37	11	55371099	55371099	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr11:55371099G>T	ENST00000302231.4	-	1	775	c.751C>A	c.(751-753)Cca>Aca	p.P251T		NM_001004700.2	NP_001004700.2	Q6IEV9	OR4CB_HUMAN	olfactory receptor, family 4, subfamily C, member 11	251					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|prostate(1)|skin(1)	33						AATATACATGGGCCAAAGAAT	0.438													12	70					1.49906e-05	1.57183e-05	1	1	0	T	55371099	G	T	55371099	3	4	119	1	0	0	0	0	1	0	0	0	11093	1232	43	5	183	5	OR4C11	11	55371099	Missense_Mutation	SNP	G	TCGA-DU-7306-01A-11D-2086-08		55371099	79635417	54	20999											
ACTN3	89	broad.mit.edu	37	11	66328794	66328794	+	RNA	SNP	G	G	C			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr11:66328794G>C	ENST00000502692.1	+	0	2202				ACTN3_ENST00000513398.1_RNA	NM_001258371.1	NP_001245300.1	Q08043	ACTN3_HUMAN	actinin, alpha 3 (gene/pseudogene)						focal adhesion assembly|muscle filament sliding|regulation of apoptosis	actin filament|cytosol|focal adhesion|pseudopodium	actin binding|calcium ion binding|integrin binding|protein homodimerization activity|structural constituent of muscle			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)	10						TGCGGCCCAGGCCAATGCCAT	0.652													9	17					0	0	1	0	0	C	66328794	G	C	66328794	1	2	119	0	1	0	0	0	0	0	0	0	206	1203	42	5		5	ACTN3	11	66328794	RNA	SNP	G	TCGA-DU-7306-01A-11D-2086-08	10957695	66328794	68677722	55	21000											
LPCAT3	10162	broad.mit.edu	37	12	7092611	7092611	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr12:7092611T>C	ENST00000261407.4	-	2	326	c.241A>G	c.(241-243)Att>Gtt	p.I81V		NM_005768.5	NP_005759.4	Q6P1A2	MBOA5_HUMAN	lysophosphatidylcholine acyltransferase 3	81					phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	1-acylglycerophosphocholine O-acyltransferase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|skin(2)	17						AAATAAGCAATTGAGAGGCCT	0.418													103	146					0	0	1	0	0	C	7092611	T	C	7092611	3	2	119	1	0	0	0	0	1	0	0	0	8957	1493	52	3	1266	3	LPCAT3	12	7092611	Missense_Mutation	SNP	T	TCGA-DU-7306-01A-11D-2086-08		7092611	126759284	56	21001											
R3HDM2	22864	broad.mit.edu	37	12	57674222	57674222	+	Silent	SNP	C	C	T			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr12:57674222C>T	ENST00000402412.1	-	14	1653	c.1263G>A	c.(1261-1263)caG>caA	p.Q421Q	R3HDM2_ENST00000403821.2_Silent_p.Q407Q|R3HDM2_ENST00000413953.2_Silent_p.Q134Q|R3HDM2_ENST00000347140.3_Silent_p.Q407Q|RP11-123K3.4_ENST00000548184.1_3'UTR|R3HDM2_ENST00000441731.2_Silent_p.Q68Q|R3HDM2_ENST00000358907.2_Silent_p.Q407Q			Q9Y2K5	R3HD2_HUMAN	R3H domain containing 2	407	Gln-rich.					nucleus	nucleic acid binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	22						gctgctgctgctgttgctgct	0.567													4	68					0	0	1	0	0	T	57674222	C	T	57674222	2	4	119	1	0	0	0	0	0	0	0	1	12940	796	28	2		2	R3HDM2	12	57674222	Silent	SNP	C	TCGA-DU-7306-01A-11D-2086-08	50581611	57674222	76177673	57	21002											
ANAPC7	51434	broad.mit.edu	37	12	110824234	110824234	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr12:110824234G>C	ENST00000455511.3	-	6	817	c.817C>G	c.(817-819)Cta>Gta	p.L273V	ANAPC7_ENST00000450008.2_Missense_Mutation_p.L273V	NM_016238.2	NP_057322.2	Q9UJX3	APC7_HUMAN	anaphase promoting complex subunit 7	273					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)	19						CTTCCCAATAGGTCCACGTTA	0.353													113	162					0	0	1	0	0	C	110824234	G	C	110824234	3	2	119	1	0	0	0	0	1	0	0	0	602	991	35	4	1010	4	ANAPC7	12	110824234	Missense_Mutation	SNP	G	TCGA-DU-7306-01A-11D-2086-08	53150012	110824234	23027661	58	21003											
AKAP6	9472	broad.mit.edu	37	14	33292355	33292355	+	Missense_Mutation	SNP	T	T	G	rs74712664		TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr14:33292355T>G	ENST00000280979.4	+	13	5506	c.5336T>G	c.(5335-5337)aTt>aGt	p.I1779S	AKAP6_ENST00000557272.1_Intron	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	1779					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		GACTCCAGTATTGCAACAGAT	0.433													31	52					0	0	1	0	0	G	33292355	T	G	33292355	3	3	119	1	0	0	0	0	1	0	0	0	452	1493	52	4	5382	4	AKAP6	14	33292355	Missense_Mutation	SNP	T	TCGA-DU-7306-01A-11D-2086-08		33292355	74057185	59	21004											
AHNAK2	113146	broad.mit.edu	37	14	105421945	105421945	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr14:105421945G>A	ENST00000333244.5	-	5	460	c.341C>T	c.(340-342)aCg>aTg	p.T114M		NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	114	PDZ.					nucleus		p.T114M(1)		cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TGTCTTCAGCGTCACCTCTGT	0.602													4	99					0	0	1	0	0	A	105421945	G	A	105421945	3	1	119	1	0	0	0	0	1	0	0	0	412	1145	40	1	17058	1	AHNAK2	14	105421945	Missense_Mutation	SNP	G	TCGA-DU-7306-01A-11D-2086-08	72129590	105421945	1927595	60	21005											
FBN1	2200	broad.mit.edu	37	15	48786433	48786433	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr15:48786433C>T	ENST00000316623.5	-	23	3151	c.2696G>A	c.(2695-2697)gGg>gAg	p.G899E		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	899	TB 4.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		TCTTGAGTACCCTTTACCACA	0.323													20	62					0	0	1	0	0	T	48786433	C	T	48786433	3	4	119	1	0	0	0	0	1	0	0	0	5735	623	22	2	6095	2	FBN1	15	48786433	Missense_Mutation	SNP	C	TCGA-DU-7306-01A-11D-2086-08		48786433	53744959	61	21006											
PAFAH1B1	5048	broad.mit.edu	37	17	2576020	2576020	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr17:2576020A>G	ENST00000397195.5	+	7	1091	c.640A>G	c.(640-642)Aaa>Gaa	p.K214E	PAFAH1B1_ENST00000572915.2_3'UTR|PAFAH1B1_ENST00000451360.2_Missense_Mutation_p.K43E	NM_000430.3	NP_000421.1	P43034	LIS1_HUMAN	platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)	214	Interaction with dynein and dynactin.				acrosome assembly|actin cytoskeleton organization|adult locomotory behavior|brain morphogenesis|corpus callosum morphogenesis|establishment of mitotic spindle orientation|G2/M transition of mitotic cell cycle|hippocampus development|layer formation in cerebral cortex|learning or memory|lipid catabolic process|microtubule organizing center organization|mitotic prometaphase|neuroblast proliferation|neuromuscular process controlling balance|neuron migration|platelet activating factor metabolic process|regulation of Rho GTPase activity|retrograde axon cargo transport|synaptic transmission|vesicle transport along microtubule	astral microtubule|cell cortex|centrosome|cytosol|kinetochore|motile primary cilium|nuclear membrane|perinuclear region of cytoplasm	dynactin binding|heparin binding|microtubule binding|phospholipase binding|phosphoprotein binding|protein homodimerization activity			endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(1)|skin(1)	11						CTCAAGGGATAAAACTATAAA	0.433													22	40					0	0	1	0	0	G	2576020	A	G	2576020	3	3	119	1	0	0	0	0	1	0	0	0	11431	363	13	3	662	3	PAFAH1B1	17	2576020	Missense_Mutation	SNP	A	TCGA-DU-7306-01A-11D-2086-08		2576020	78619190	62	21007											
TP53	7157	broad.mit.edu	37	17	7577538	7577538	+	Missense_Mutation	SNP	C	C	T	rs11540652		TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr17:7577538C>T	ENST00000420246.2	-	7	875	c.743G>A	c.(742-744)cGg>cAg	p.R248Q	TP53_ENST00000445888.2_Missense_Mutation_p.R248Q|TP53_ENST00000269305.4_Missense_Mutation_p.R248Q|TP53_ENST00000413465.2_Missense_Mutation_p.R248Q|TP53_ENST00000359597.4_Missense_Mutation_p.R248Q|TP53_ENST00000455263.2_Missense_Mutation_p.R248Q	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	248	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R248Q(580)|p.R248L(75)|p.R248P(19)|p.R155Q(18)|p.0?(8)|p.?(5)|p.R155L(3)|p.R155P(2)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248fs*>39(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(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)		GATGGGCCTCCGGTTCATGCC	0.572	R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	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)			44	62					0	0	1	0	0	T	7577538	C	T	7577538	3	4	119	1	0	0	0	0	1	0	0	0	16442	652	23	1	547	1	TP53	17	7577538	Missense_Mutation	SNP	C	TCGA-DU-7306-01A-11D-2086-08	5001518	7577538	73617672	63	21008											
DNAJC7	7266	broad.mit.edu	37	17	40133943	40133943	+	Silent	SNP	G	G	A			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr17:40133943G>A	ENST00000457167.4	-	12	1550	c.1314C>T	c.(1312-1314)ctC>ctT	p.L438L	DNAJC7_ENST00000316603.7_Silent_p.L382L|DNAJC7_ENST00000426588.3_Silent_p.L382L	NM_003315.3	NP_003306.3	Q99615	DNJC7_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 7	438	J.				chaperone cofactor-dependent protein refolding	cytoplasm|cytoskeleton|nucleus	heat shock protein binding|unfolded protein binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)	9		all_cancers(22;0.00273)|Breast(137;0.00104)|all_epithelial(22;0.0305)				TGGGATCAGAGAGGATAGTAA	0.502													31	94					0	0	1	0	0	A	40133943	G	A	40133943	2	1	119	1	0	0	0	0	0	0	0	1	4681	929	33	2		2	DNAJC7	17	40133943	Silent	SNP	G	TCGA-DU-7306-01A-11D-2086-08	32556405	40133943	41061267	64	21009											
TEX14	56155	broad.mit.edu	37	17	56700218	56700218	+	Missense_Mutation	SNP	C	C	T	rs140312980		TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr17:56700218C>T	ENST00000389934.3	-	4	524	c.407G>A	c.(406-408)cGt>cAt	p.R136H	TEX14_ENST00000349033.5_Missense_Mutation_p.R136H|TEX14_ENST00000240361.8_Missense_Mutation_p.R136H	NM_001201457.1|NM_198393.3	NP_001188386.1|NP_938207.2	Q8IWB6	TEX14_HUMAN	testis expressed 14	136						cytoplasm	ATP binding|protein kinase activity			breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CTGGGTGCTACGCTCCTTTCC	0.567													6	132					0	0	1	0	0	T	56700218	C	T	56700218	3	4	119	1	0	0	0	0	1	0	0	0	15837	536	19	1	4188	1	TEX14	17	56700218	Missense_Mutation	SNP	C	TCGA-DU-7306-01A-11D-2086-08	16566275	56700218	24494992	65	21010											
CETN1	1068	broad.mit.edu	37	18	580857	580857	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr18:580857A>C	ENST00000327228.3	+	1	491	c.449A>C	c.(448-450)gAt>gCt	p.D150A		NM_004066.1	NP_004057.1	Q12798	CETN1_HUMAN	centrin, EF-hand protein, 1	150	EF-hand 4.				cell division|mitosis	spindle pole	ATP binding|ATP-dependent helicase activity|calcium ion binding|nucleic acid binding			breast(2)|cervix(1)|endometrium(3)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(2)	25						GACGAAGCTGATCGGGATGGG	0.542													17	81					0	0	1	0	0	C	580857	A	C	580857	3	2	119	1	0	0	0	0	1	0	0	0	3296	333	12	4	451	4	CETN1	18	580857	Missense_Mutation	SNP	A	TCGA-DU-7306-01A-11D-2086-08		580857	77496391	66	21011											
KIAA1328	57536	broad.mit.edu	37	18	34414311	34414311	+	Silent	SNP	C	C	T			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr18:34414311C>T	ENST00000591619.1	+	2	861	c.75C>T	c.(73-75)taC>taT	p.Y25Y	KIAA1328_ENST00000435985.2_5'UTR|KIAA1328_ENST00000543923.1_5'UTR|KIAA1328_ENST00000592521.1_Silent_p.Y29Y|KIAA1328_ENST00000280020.5_Silent_p.Y29Y			Q86T90	K1328_HUMAN	KIAA1328	29										central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	14				COAD - Colon adenocarcinoma(74;0.195)		CAGTAGTATACGTTCCAGGTA	0.338													9	8					0	0	1	0	0	T	34414311	C	T	34414311	2	4	119	1	0	0	0	0	0	0	0	1	8267	547	19	1		1	KIAA1328	18	34414311	Silent	SNP	C	TCGA-DU-7306-01A-11D-2086-08	33833454	34414311	43662937	67	21012											
DAPK3	1613	broad.mit.edu	37	19	3964267	3964267	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr19:3964267G>C	ENST00000545797.2	-	4	771	c.528C>G	c.(526-528)aaC>aaG	p.N176K	DAPK3_ENST00000301264.3_Missense_Mutation_p.N176K			O43293	DAPK3_HUMAN	death-associated protein kinase 3	176	Protein kinase.				apoptosis|chromatin modification|induction of apoptosis|intracellular protein kinase cascade	cytoplasm|PML body	ATP binding|leucine zipper domain binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(2)	21		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)		TGCCGAAGATGTTCTTGAACT	0.627													15	47					0	0	1	0	0	C	3964267	G	C	3964267	3	2	119	1	0	0	0	0	1	0	0	0	4261	1368	48	5	860	5	DAPK3	19	3964267	Missense_Mutation	SNP	G	TCGA-DU-7306-01A-11D-2086-08		3964267	55164716	68	21013											
OR2Z1	284383	broad.mit.edu	37	19	8841995	8841995	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr19:8841995C>A	ENST00000324060.2	+	1	680	c.605C>A	c.(604-606)tCa>tAa	p.S202*		NM_001004699.1	NP_001004699.1	Q8NG97	OR2Z1_HUMAN	olfactory receptor, family 2, subfamily Z, member 1	202					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CTGTCCACCTCAGGGGTGCTG	0.577											OREG0007662	type=TRANSCRIPTION FACTOR BINDING SITE|Gene=OR2Z1|TFbs=REST|Dataset=NRSF/REST ChIPSeq sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)	20	153					5.49717e-05	5.7086e-05	1	1	0	A	8841995	C	A	8841995	4	1	119	1	0	0	0	0	0	1	0	0	11084	838	29	5	607	5	OR2Z1	19	8841995	Nonsense_Mutation	SNP	C	TCGA-DU-7306-01A-11D-2086-08	4877728	8841995	50286988	69	21014											
ZNF492	57615	broad.mit.edu	37	19	22847842	22847842	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr19:22847842delT	ENST00000456783.2	+	4	1615	c.1371delT	c.(1369-1371)gctfs	p.A457fs		NM_020855.2	NP_065906.1	Q9P255	ZN492_HUMAN	zinc finger protein 492	457					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)				GTGGCAAAGCTTTTAACCAGT	0.388													106	25	---	---	---	---						-	22847842	T	-	22847842	7	5	119	1	0	1	0	1	0	0	0	0	18000	1596	56	0	1381	0	ZNF492	19	22847842	Frame_Shift_Del	DEL	T	TCGA-DU-7306-01A-11D-2086-08	14005847	22847842	36281141	70	21015											
PHLDB3	653583	broad.mit.edu	37	19	43999703	43999703	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr19:43999703C>T	ENST00000292140.5	-	7	1255	c.895G>A	c.(895-897)Gcc>Acc	p.A299T		NM_198850.3	NP_942147.3	Q6NSJ2	PHLB3_HUMAN	pleckstrin homology-like domain, family B, member 3	299										breast(1)|central_nervous_system(1)|lung(5)	7		Prostate(69;0.0153)				CGGCTCTCGGCTGCCATCTGC	0.642													10	12					0	0	1	0	0	T	43999703	C	T	43999703	3	4	119	1	0	0	0	0	1	0	0	0	11901	797	28	2	1067	2	PHLDB3	19	43999703	Missense_Mutation	SNP	C	TCGA-DU-7306-01A-11D-2086-08	21151861	43999703	15129280	71	21016											
RELB	5971	broad.mit.edu	37	19	45540972	45540972	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr19:45540972G>A	ENST00000221452.8	+	12	1814	c.1664G>A	c.(1663-1665)aGc>aAc	p.S555N	RELB_ENST00000505236.1_Missense_Mutation_p.S552N|RELB_ENST00000540120.1_Missense_Mutation_p.S555N	NM_006509.3	NP_006500.2	Q01201	RELB_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog B	555						nucleus	protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|ovary(3)|skin(1)	12		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00986)		CTTGTGGGCAGCAACATGTTC	0.701													3	53					0	0	1	0	0	A	45540972	G	A	45540972	3	1	119	1	0	0	0	0	1	0	0	0	13269	971	34	2	1702	2	RELB	19	45540972	Missense_Mutation	SNP	G	TCGA-DU-7306-01A-11D-2086-08	1541269	45540972	13588011	72	21017											
CRX	1406	broad.mit.edu	37	19	48342788	48342788	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr19:48342788C>T	ENST00000221996.7	+	4	670	c.464C>T	c.(463-465)aCg>aTg	p.T155M	CRX_ENST00000539067.1_Missense_Mutation_p.T155M|TPRX2P_ENST00000535362.1_Intron	NM_000554.4	NP_000545.1	O43186	CRX_HUMAN	cone-rod homeobox	155					organ morphogenesis|response to stimulus|visual perception		leucine zipper domain binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|urinary_tract(1)	23		all_cancers(25;2.76e-09)|all_epithelial(76;7.01e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)		OV - Ovarian serous cystadenocarcinoma(262;0.000266)|all cancers(93;0.000788)|Epithelial(262;0.0226)|GBM - Glioblastoma multiforme(486;0.0521)		TCCCCAACCACGGCAGTGGCC	0.667													8	106					0	0	1	0	0	T	48342788	C	T	48342788	3	4	119	1	0	0	0	0	1	0	0	0	3925	536	19	1	474	1	CRX	19	48342788	Missense_Mutation	SNP	C	TCGA-DU-7306-01A-11D-2086-08	2801816	48342788	10786195	73	21018											
GRWD1	83743	broad.mit.edu	37	19	48953672	48953672	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr19:48953672C>G	ENST00000253237.5	+	4	804	c.571C>G	c.(571-573)Cag>Gag	p.Q191E		NM_031485.3	NP_113673.3	Q9BQ67	GRWD1_HUMAN	glutamate-rich WD repeat containing 1	191						nucleolus				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|stomach(1)	19		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000206)|all cancers(93;0.000207)|Epithelial(262;0.0125)|GBM - Glioblastoma multiforme(486;0.0222)		GGAGGAGCCCCAGGCCCTGGC	0.647													24	73					0	0	1	0	0	G	48953672	C	G	48953672	3	3	119	1	0	0	0	0	1	0	0	0	6852	595	21	5	585	5	GRWD1	19	48953672	Missense_Mutation	SNP	C	TCGA-DU-7306-01A-11D-2086-08	610884	48953672	10175311	74	21019											
NLRP13	126204	broad.mit.edu	37	19	56423195	56423195	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr19:56423195A>T	ENST00000588751.1	-	5	2012	c.1988T>A	c.(1987-1989)cTt>cAt	p.L663H	NLRP13_ENST00000342929.3_Missense_Mutation_p.L663H			Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	663							ATP binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		CAAAATATTAAGGTCAACTTC	0.403													4	78					0	0	1	0	0	T	56423195	A	T	56423195	3	4	119	1	0	0	0	0	1	0	0	0	10522	72	3	5	1169	5	NLRP13	19	56423195	Missense_Mutation	SNP	A	TCGA-DU-7306-01A-11D-2086-08	7469523	56423195	2705788	75	21020											
ZFP64	55734	broad.mit.edu	37	20	50701276	50701276	+	Silent	SNP	G	G	A			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr20:50701276G>A	ENST00000361387.2	-	9	1818	c.1758C>T	c.(1756-1758)ggC>ggT	p.G586G	ZFP64_ENST00000371518.2_Intron|ZFP64_ENST00000371523.4_Silent_p.G367G	NM_199427.2	NP_955459.2	Q9NPA5	ZF64A_HUMAN	ZFP64 zinc finger protein	431					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						CGAAGGAGGCGCCGCAGGTCT	0.597													14	36					0	0	1	0	0	A	50701276	G	A	50701276	2	1	119	1	0	0	0	0	0	0	0	1	17710	1074	38	1		1	ZFP64	20	50701276	Silent	SNP	G	TCGA-DU-7306-01A-11D-2086-08		50701276	12324244	76	21021											
CSF2RA	1438	broad.mit.edu	37	X	1404769	1404769	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chrX:1404769A>G	ENST00000381524.3	+	4	361	c.175A>G	c.(175-177)Aag>Gag	p.K59E	CSF2RA_ENST00000355432.3_Missense_Mutation_p.K59E|CSF2RA_ENST00000501036.2_Intron|CSF2RA_ENST00000381500.1_Missense_Mutation_p.K59E|CSF2RA_ENST00000355805.2_Missense_Mutation_p.K59E|CSF2RA_ENST00000381529.3_Missense_Mutation_p.K59E|CSF2RA_ENST00000361536.3_Missense_Mutation_p.K59E|CSF2RA_ENST00000494969.2_Missense_Mutation_p.K59E|CSF2RA_ENST00000432318.2_Missense_Mutation_p.K59E|CSF2RA_ENST00000381509.3_Missense_Mutation_p.K59E|CSF2RA_ENST00000417535.2_Missense_Mutation_p.K59E			P15509	CSF2R_HUMAN	colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)	59						extracellular region|integral to plasma membrane	cytokine receptor activity			central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	AACCTTCAGCAAGTGTTTCTT	0.473													61	170					0	0	1	0	0	G	1404769	A	G	1404769	3	3	119	1	0	0	0	0	1	0	0	0	3959	131	5	3	181	3	CSF2RA	23	1404769	Missense_Mutation	SNP	A	TCGA-DU-7306-01A-11D-2086-08		1404769	153865791	77	21022											
EIF1AX	1964	broad.mit.edu	37	X	20156719	20156719	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chrX:20156719C>T	ENST00000379607.5	-	2	241	c.38G>A	c.(37-39)cGc>cAc	p.R13H	EIF1AX_ENST00000379593.1_Intron	NM_001412.3	NP_001403.1	P47813	IF1AX_HUMAN	eukaryotic translation initiation factor 1A, X-linked	13						cytosol	translation initiation factor activity			endometrium(2)|lung(1)|ovary(1)|prostate(1)	5						CTTACCCCTGCGTCTGTTTTT	0.303													3	65					0	0	1	0	0	T	20156719	C	T	20156719	3	4	119	1	0	0	0	0	1	0	0	0	5018	768	27	1	420	1	EIF1AX	23	20156719	Missense_Mutation	SNP	C	TCGA-DU-7306-01A-11D-2086-08	18751950	20156719	135113841	78	21023											
CXorf58	254158	broad.mit.edu	37	X	23956785	23956785	+	Silent	SNP	T	T	C			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chrX:23956785T>C	ENST00000379211.3	+	8	1456	c.907T>C	c.(907-909)Ttg>Ctg	p.L303L		NM_001169574.1|NM_152761.2	NP_001163045.1|NP_689974.2	Q96LI9	CX058_HUMAN	chromosome X open reading frame 58	303										breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(2)|prostate(1)	14						AAAAGTTTATTTGGCTAAAGA	0.338													56	16					0	0	1	0	0	C	23956785	T	C	23956785	2	2	119	1	0	0	0	0	0	0	0	1	4137	1838	64	3		3	CXorf58	23	23956785	Silent	SNP	T	TCGA-DU-7306-01A-11D-2086-08	3800066	23956785	131313775	79	21024											
ATRX	546	broad.mit.edu	37	X	76814303	76814306	+	Frame_Shift_Del	DEL	ATAA	ATAA	-			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chrX:76814303_76814306delATAA	ENST00000373344.5	-	29	6552_6555	c.6338_6341delTTAT	c.(6337-6342)tttatcfs	p.FI2113fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.FI2075fs	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	2113	Helicase C-terminal.				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.F2113fs*9(1)|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)	AGTAGAAATGATAAATAATCGTCC	0.289			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						32	9	---	---	---	---						-	76814306	ATAA	-	76814303	7	5	119	1	0	1	0	1	0	0	0	0	1206	333	12	0	1165	0	ATRX	23	76814303	Frame_Shift_Del	DEL	ATAA	TCGA-DU-7306-01A-11D-2086-08	52857518	76814303	78456257	80	21025											
DNAJC11	55735	broad.mit.edu	37	1	6697392	6697392	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr1:6697392T>C	ENST00000377577.5	-	14	1513	c.1390A>G	c.(1390-1392)Atc>Gtc	p.I464V	DNAJC11_ENST00000377573.5_Missense_Mutation_p.I374V|DNAJC11_ENST00000349363.6_Intron|DNAJC11_ENST00000542246.1_Missense_Mutation_p.I426V|DNAJC11_ENST00000465508.1_5'UTR|DNAJC11_ENST00000294401.7_Missense_Mutation_p.I412V	NM_018198.3	NP_060668.2	Q9NVH1	DJC11_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 11	464					protein folding		heat shock protein binding|unfolded protein binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)|urinary_tract(1)	32	Ovarian(185;0.0265)|all_lung(157;0.154)	all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649)		GCATTGACGATGATGAGGCCT	0.572													7	153					0	0	1	0	0	C	6697392	T	C	6697392	3	2	120	1	0	0	0	0	1	0	0	0	4657	1464	51	3	301	3	DNAJC11	1	6697392	Missense_Mutation	SNP	T	TCGA-DU-7309-01A-11D-2086-08		6697392	242553229	1	21026											
OVGP1	5016	broad.mit.edu	37	1	111966210	111966210	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr1:111966210T>A	ENST00000369732.3	-	5	493	c.438A>T	c.(436-438)agA>agT	p.R146S	OVGP1_ENST00000540696.1_Missense_Mutation_p.R86S	NM_002557.3	NP_002548.3	Q12889	OVGP1_HUMAN	oviductal glycoprotein 1, 120kDa	146					chitin catabolic process|female pregnancy|single fertilization	transport vesicle	cation binding|chitinase activity			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	39		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)		TGGGGCTGCCTCTTAGTCCAG	0.403													17	49					0	0	1	0	0	A	111966210	T	A	111966210	3	1	120	1	0	0	0	0	1	0	0	0	11372	1548	54	5	1626	5	OVGP1	1	111966210	Missense_Mutation	SNP	T	TCGA-DU-7309-01A-11D-2086-08	105268818	111966210	137284411	2	21027											
PGLYRP4	57115	broad.mit.edu	37	1	153315567	153315567	+	Splice_Site	SNP	T	T	C			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr1:153315567T>C	ENST00000368739.3	-	5	817	c.459A>G	c.(457-459)aaA>aaG	p.K153K	PGLYRP4_ENST00000359650.5_Splice_Site_p.K157K			Q96LB8	PGRP4_HUMAN	peptidoglycan recognition protein 4	157					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			breast(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	23	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			AACTGTTACCTTTCTTAGTGC	0.478													19	25					0	0	1	0	0	C	153315567	T	C	153315567	5	2	120	1	0	0	0	0	0	0	1	0	11844	1623	56	3	670	3	PGLYRP4	1	153315567	Splice_Site	SNP	T	TCGA-DU-7309-01A-11D-2086-08	41349357	153315567	95935054	3	21028											
PBXIP1	57326	broad.mit.edu	37	1	154924372	154924372	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr1:154924372G>A	ENST00000368463.3	-	3	148	c.77C>T	c.(76-78)cCg>cTg	p.P26L	PBXIP1_ENST00000539880.1_Intron|PBXIP1_ENST00000542459.1_Intron|PBXIP1_ENST00000368465.1_5'UTR|PBXIP1_ENST00000368460.3_Missense_Mutation_p.P26L|PBXIP1_ENST00000498553.1_Intron	NM_020524.2	NP_065385.2	Q96AQ6	PBIP1_HUMAN	pre-B-cell leukemia homeobox interacting protein 1	26					cell differentiation|multicellular organismal development|negative regulation of transcription, DNA-dependent	cytosol|microtubule|nucleus	protein binding|transcription corepressor activity			breast(1)|kidney(2)|large_intestine(6)|lung(13)|prostate(1)|urinary_tract(1)	24	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			CCTGGATGCCGGGCCCAGTGT	0.592													3	70					0	0	1	0	0	A	154924372	G	A	154924372	3	1	120	1	0	0	0	0	1	0	0	0	11543	1116	39	1	2154	1	PBXIP1	1	154924372	Missense_Mutation	SNP	G	TCGA-DU-7309-01A-11D-2086-08	1608805	154924372	94326249	4	21029											
PPP1CB	5500	broad.mit.edu	37	2	29016792	29016792	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr2:29016792A>T	ENST00000395366.2	+	7	1080	c.808A>T	c.(808-810)Aat>Tat	p.N270Y	SPDYA_ENST00000462832.1_3'UTR|PPP1CB_ENST00000296122.6_Missense_Mutation_p.N270Y|PPP1CB_ENST00000358506.2_Missense_Mutation_p.N270Y	NM_002709.2	NP_002700.1	P62140	PP1B_HUMAN	protein phosphatase 1, catalytic subunit, beta isozyme	270					cell cycle|cell division|glycogen metabolic process|triglyceride catabolic process	MLL5-L complex|nucleolus|PTW/PP1 phosphatase complex	metal ion binding|myosin phosphatase activity|myosin-light-chain-phosphatase activity|protein binding			cervix(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	9	Acute lymphoblastic leukemia(172;0.155)					TTCAGCCCCAAATTACTGTGG	0.348													14	39					0	0	1	0	0	T	29016792	A	T	29016792	3	4	120	1	0	0	0	0	1	0	0	0	12399	14	1	5	834	5	PPP1CB	2	29016792	Missense_Mutation	SNP	A	TCGA-DU-7309-01A-11D-2086-08		29016792	214182581	5	21030											
CEP68	23177	broad.mit.edu	37	2	65296819	65296819	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr2:65296819C>G	ENST00000377990.2	+	2	444	c.241C>G	c.(241-243)Cca>Gca	p.P81A	CEP68_ENST00000260569.4_Missense_Mutation_p.P81A|CEP68_ENST00000546106.1_Missense_Mutation_p.P81A|CEP68_ENST00000537589.1_Intron	NM_015147.2	NP_055962.2	Q76N32	CEP68_HUMAN	centrosomal protein 68kDa	81					centrosome organization	centrosome				breast(1)|endometrium(6)|kidney(8)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32						AGCCCACCAGCCACAGGCCAG	0.632													9	53					0	0	1	0	0	G	65296819	C	G	65296819	3	3	120	1	0	0	0	0	1	0	0	0	3280	739	26	5	243	5	CEP68	2	65296819	Missense_Mutation	SNP	C	TCGA-DU-7309-01A-11D-2086-08	36280027	65296819	177902554	6	21031	106	2									
CEP68	23177	broad.mit.edu	37	2	65296821	65296821	+	Silent	SNP	A	A	G			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr2:65296821A>G	ENST00000377990.2	+	2	446	c.243A>G	c.(241-243)ccA>ccG	p.P81P	CEP68_ENST00000260569.4_Silent_p.P81P|CEP68_ENST00000546106.1_Silent_p.P81P|CEP68_ENST00000537589.1_Intron	NM_015147.2	NP_055962.2	Q76N32	CEP68_HUMAN	centrosomal protein 68kDa	81					centrosome organization	centrosome				breast(1)|endometrium(6)|kidney(8)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32						CCCACCAGCCACAGGCCAGTG	0.632													10	53					0	0	1	0	0	G	65296821	A	G	65296821	2	3	120	1	0	0	0	0	0	0	0	1	3280	146	6	3		3	CEP68	2	65296821	Silent	SNP	A	TCGA-DU-7309-01A-11D-2086-08	2	65296821	177902552	7	21032	106	2									
ST6GAL2	84620	broad.mit.edu	37	2	107460056	107460056	+	Silent	SNP	C	C	T			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr2:107460056C>T	ENST00000409382.3	-	2	988	c.378G>A	c.(376-378)ccG>ccA	p.P126P	ST6GAL2_ENST00000361686.4_Silent_p.P126P|ST6GAL2_ENST00000409087.3_Silent_p.P126P	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	126					growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						CGTCATCCTCCGGGTAGAAAG	0.552													5	145					0	0	1	0	0	T	107460056	C	T	107460056	2	4	120	1	0	0	0	0	0	0	0	1	15278	639	23	1		1	ST6GAL2	2	107460056	Silent	SNP	C	TCGA-DU-7309-01A-11D-2086-08	42163235	107460056	135739317	8	21033											
CXCR2	3579	broad.mit.edu	37	2	218999633	218999633	+	Missense_Mutation	SNP	G	G	A	rs75759064	by1000genomes	TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr2:218999633G>A	ENST00000318507.2	+	3	536	c.109G>A	c.(109-111)Gcc>Acc	p.A37T		NM_001557.3	NP_001548.1	P25025	CXCR2_HUMAN	chemokine (C-X-C motif) receptor 2	37					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular defense response|dendritic cell chemotaxis|inflammatory response|neutrophil activation|neutrophil chemotaxis|positive regulation of cell proliferation	cell surface|integral to plasma membrane|mast cell granule	interleukin-8 receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(11)|skin(1)|stomach(1)	22						ACTAGATGCCGCCCCATGTGA	0.448													53	116					0	0	1	0	0	A	218999633	G	A	218999633	3	1	120	1	0	0	0	0	1	0	0	0	4114	1087	38	1	111	1	CXCR2	2	218999633	Missense_Mutation	SNP	G	TCGA-DU-7309-01A-11D-2086-08	111539577	218999633	24199740	9	21034											
UGT2B11	10720	broad.mit.edu	37	4	70080096	70080096	+	Silent	SNP	G	G	A			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr4:70080096G>A	ENST00000446444.1	-	1	353	c.345C>T	c.(343-345)atC>atT	p.I115I	RP11-704M14.1_ENST00000504301.1_RNA|RP11-704M14.1_ENST00000505646.1_RNA	NM_001073.1	NP_001064.1	O75310	UDB11_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B11	115					estrogen metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	42						ATTCCCACAGGATTTCTTGTT	0.299													7	22					0	0	1	0	0	A	70080096	G	A	70080096	2	1	120	1	0	0	0	0	0	0	0	1	17017	1164	41	2		2	UGT2B11	4	70080096	Silent	SNP	G	TCGA-DU-7309-01A-11D-2086-08		70080096	121074180	10	21035											
MTTP	4547	broad.mit.edu	37	4	100532549	100532549	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr4:100532549T>C	ENST00000457717.1	+	15	2184	c.1928T>C	c.(1927-1929)cTa>cCa	p.L643P	MTTP_ENST00000265517.5_Missense_Mutation_p.L643P|MTTP_ENST00000511045.1_Missense_Mutation_p.L670P|RP11-766F14.1_ENST00000508578.1_RNA	NM_000253.2	NP_000244.2	P55157	MTP_HUMAN	microsomal triglyceride transfer protein	643	Vitellogenin.				lipid metabolic process|lipoprotein metabolic process	endoplasmic reticulum lumen	lipid binding|lipid transporter activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)	TCTGGCATTCTAAGGAGAAGT	0.433													7	156					0	0	1	0	0	C	100532549	T	C	100532549	3	2	120	1	0	0	0	0	1	0	0	0	10012	1522	53	3	1982	3	MTTP	4	100532549	Missense_Mutation	SNP	T	TCGA-DU-7309-01A-11D-2086-08	30452453	100532549	90621727	11	21036											
SEMA6A	57556	broad.mit.edu	37	5	115803413	115803413	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr5:115803413G>C	ENST00000343348.6	-	18	2547	c.1760C>G	c.(1759-1761)aCc>aGc	p.T587S	SEMA6A_ENST00000510263.1_Missense_Mutation_p.T587S|CTB-118N6.3_ENST00000510682.1_RNA|SEMA6A_ENST00000257414.8_Missense_Mutation_p.T604S|SEMA6A_ENST00000282394.6_Intron|CTB-118N6.3_ENST00000508424.1_RNA|SEMA6A_ENST00000513137.1_Missense_Mutation_p.T14S|CTB-118N6.3_ENST00000514214.1_RNA|CTB-118N6.3_ENST00000508640.1_RNA	NM_020796.3	NP_065847	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A	587					apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis	axon|integral to membrane|plasma membrane	receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)		ATCTGATGTGGTTGTGCTGGG	0.522													13	26					0	0	1	0	0	C	115803413	G	C	115803413	3	2	120	1	0	0	0	0	1	0	0	0	14093	1261	44	5	1340	5	SEMA6A	5	115803413	Missense_Mutation	SNP	G	TCGA-DU-7309-01A-11D-2086-08		115803413	65111847	12	21037											
GABRA6	2559	broad.mit.edu	37	5	161128598	161128598	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr5:161128598C>T	ENST00000523217.1	+	9	1393	c.1151C>T	c.(1150-1152)gCg>gTg	p.A384V	GABRA6_ENST00000274545.5_Missense_Mutation_p.A394V	NM_000811.2	NP_000802.2	Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	394					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	CTCACGAGAGCGCCCATCTTA	0.473										TCGA Ovarian(5;0.080)			16	55					0	0	1	0	0	T	161128598	C	T	161128598	3	4	120	1	0	0	0	0	1	0	0	0	6200	768	27	1	1215	1	GABRA6	5	161128598	Missense_Mutation	SNP	C	TCGA-DU-7309-01A-11D-2086-08	45325185	161128598	19786662	13	21038											
ZNF318	24149	broad.mit.edu	37	6	43310590	43310590	+	Missense_Mutation	SNP	G	G	A	rs147313268	byFrequency	TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr6:43310590G>A	ENST00000361428.2	-	7	3177	c.3100C>T	c.(3100-3102)Cgt>Tgt	p.R1034C	ZNF318_ENST00000318149.3_Missense_Mutation_p.R1034C	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	1034				RT -> CI (in Ref. 1; AAD47387/AAD17298).	meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			CTCTTAGTACGAAACTTCTCA	0.433													6	28					0	0	1	0	0	A	43310590	G	A	43310590	3	1	120	1	0	0	0	0	1	0	0	0	17893	1058	37	1	3755	1	ZNF318	6	43310590	Missense_Mutation	SNP	G	TCGA-DU-7309-01A-11D-2086-08		43310590	127804477	14	21039											
DOPEY1	23033	broad.mit.edu	37	6	83863326	83863326	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr6:83863326C>G	ENST00000349129.2	+	31	6486	c.6226C>G	c.(6226-6228)Ctc>Gtc	p.L2076V	DOPEY1_ENST00000484282.1_3'UTR|DOPEY1_ENST00000369739.3_Missense_Mutation_p.L2067V|DOPEY1_ENST00000237163.5_Missense_Mutation_p.L2006V	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	2076					protein transport					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		TGTGCCCTACCTCAGAAATCA	0.313													6	62					0	0	1	0	0	G	83863326	C	G	83863326	3	3	120	1	0	0	0	0	1	0	0	0	4734	681	24	4	6340	4	DOPEY1	6	83863326	Missense_Mutation	SNP	C	TCGA-DU-7309-01A-11D-2086-08	40552736	83863326	87251741	15	21040											
AIM1	202	broad.mit.edu	37	6	106992514	106992514	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr6:106992514A>G	ENST00000369066.3	+	10	4371	c.3884A>G	c.(3883-3885)gAc>gGc	p.D1295G	AIM1_ENST00000487681.1_3'UTR|AIM1_ENST00000535438.1_Missense_Mutation_p.D114G	NM_001624.2	NP_001615	Q9Y4K1	AIM1_HUMAN	absent in melanoma 1	1295	Beta/gamma crystallin 'Greek key' 6.						sugar binding			breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		GAATACAGGGACTGGAAAGCC	0.418													4	67					0	0	1	0	0	G	106992514	A	G	106992514	3	3	120	1	0	0	0	0	1	0	0	0	427	275	10	3	3922	3	AIM1	6	106992514	Missense_Mutation	SNP	A	TCGA-DU-7309-01A-11D-2086-08	23129188	106992514	64122553	16	21041											
PCMT1	5110	broad.mit.edu	37	6	150111138	150111138	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr6:150111138A>G	ENST00000464889.1	+	4	699	c.415A>G	c.(415-417)Aaa>Gaa	p.K139E	PCMT1_ENST00000367384.2_Missense_Mutation_p.K139E|PCMT1_ENST00000367378.1_Missense_Mutation_p.K139E|PCMT1_ENST00000367380.5_Missense_Mutation_p.K81E|PCMT1_ENST00000544496.1_Missense_Mutation_p.K46E					protein-L-isoaspartate (D-aspartate) O-methyltransferase											kidney(1)|large_intestine(2)|lung(4)|ovary(1)	8		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.221)	OV - Ovarian serous cystadenocarcinoma(155;5.63e-13)|GBM - Glioblastoma multiforme(68;0.207)		TGAAGGAGCTAAAGCTCTTGA	0.378													40	73					0	0	1	0	0	G	150111138	A	G	150111138	3	3	120	1	0	0	0	0	1	0	0	0	11632	363	13	3	429	3	PCMT1	6	150111138	Missense_Mutation	SNP	A	TCGA-DU-7309-01A-11D-2086-08	43118624	150111138	21003929	17	21042											
C7orf10	79783	broad.mit.edu	37	7	40899974	40899974	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr7:40899974G>A	ENST00000309930.5	+	15	1336	c.1312G>A	c.(1312-1314)Ggg>Agg	p.G438R	C7orf10_ENST00000464028.1_3'UTR|C7orf10_ENST00000401647.2_Missense_Mutation_p.G364R|C7orf10_ENST00000335693.4_Missense_Mutation_p.G412R	NM_001193311.1|NM_024728.2	NP_001180240.1|NP_079004.1	Q9HAC7	CG010_HUMAN	chromosome 7 open reading frame 10	412							transferase activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)	18						CCCGCTGCTCGGGCAGCACAC	0.567													31	140					0	0	1	0	0	A	40899974	G	A	40899974	3	1	120	1	0	0	0	0	1	0	0	0	2392	1116	39	1	1259	1	C7orf10	7	40899974	Missense_Mutation	SNP	G	TCGA-DU-7309-01A-11D-2086-08		40899974	118238689	18	21043											
MUC17	140453	broad.mit.edu	37	7	100696423	100696423	+	Silent	SNP	G	G	C			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr7:100696423G>C	ENST00000306151.4	+	10	13324	c.13260G>C	c.(13258-13260)gtG>gtC	p.V4420V		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	4420						extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					AGAGAGAGGTGAAACGGTGAG	0.567													7	26					0	0	1	0	0	C	100696423	G	C	100696423	2	2	120	1	0	0	0	0	0	0	0	1	10022	1277	45	5		5	MUC17	7	100696423	Silent	SNP	G	TCGA-DU-7309-01A-11D-2086-08	59796449	100696423	58442240	19	21044											
OR2A25	392138	broad.mit.edu	37	7	143771775	143771775	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr7:143771775G>A	ENST00000408898.2	+	1	501	c.463G>A	c.(463-465)Gcc>Acc	p.A155T		NM_001004488.1	NP_001004488.1	A4D2G3	O2A25_HUMAN	olfactory receptor, family 2, subfamily A, member 25	155					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	24	Melanoma(164;0.0783)					AGTCTTATTGGCCCTTGTCCA	0.458													6	138					0	0	1	0	0	A	143771775	G	A	143771775	3	1	120	1	0	0	0	0	1	0	0	0	11026	1203	42	2	465	2	OR2A25	7	143771775	Missense_Mutation	SNP	G	TCGA-DU-7309-01A-11D-2086-08	43075352	143771775	15366888	20	21045											
MYOM2	9172	broad.mit.edu	37	8	2040226	2040226	+	Silent	SNP	G	G	A			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr8:2040226G>A	ENST00000262113.4	+	16	2022	c.1881G>A	c.(1879-1881)tcG>tcA	p.S627S	MYOM2_ENST00000523438.1_Silent_p.S52S	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	627	Fibronectin type-III 3.				muscle contraction	myosin filament	structural constituent of muscle			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		CCAAGACGTCGGTGGTGGTGC	0.577													16	174					0	0	1	0	0	A	2040226	G	A	2040226	2	1	120	1	0	0	0	0	0	0	0	1	10140	1103	39	1		1	MYOM2	8	2040226	Silent	SNP	G	TCGA-DU-7309-01A-11D-2086-08		2040226	144323796	21	21046											
LACTB2	51110	broad.mit.edu	37	8	71581352	71581352	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr8:71581352C>G	ENST00000276590.4	-	1	40	c.4G>C	c.(4-6)Gct>Cct	p.A2P	LACTB2_ENST00000522447.1_Missense_Mutation_p.A2P	NM_016027.2	NP_057111.1	Q53H82	LACB2_HUMAN	lactamase, beta 2	2							hydrolase activity|metal ion binding			endometrium(2)|large_intestine(1)|liver(1)|lung(4)|ovary(1)|prostate(1)	10	Breast(64;0.0716)		Epithelial(68;0.00319)|all cancers(69;0.0175)|OV - Ovarian serous cystadenocarcinoma(28;0.0628)|BRCA - Breast invasive adenocarcinoma(89;0.166)			AGTACAGCAGCCATTCCCGCC	0.642											OREG0018822	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	29					0	0	1	0	0	G	71581352	C	G	71581352	3	3	120	1	0	0	0	0	1	0	0	0	8637	739	26	5	890	5	LACTB2	8	71581352	Missense_Mutation	SNP	C	TCGA-DU-7309-01A-11D-2086-08	69541126	71581352	74782670	22	21047											
NDST2	8509	broad.mit.edu	37	10	75565368	75565368	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr10:75565368G>C	ENST00000603027.1	-	8	2346	c.1723C>G	c.(1723-1725)Cag>Gag	p.Q575E	NDST2_ENST00000299641.4_Missense_Mutation_p.Q452E|NDST2_ENST00000309979.6_Missense_Mutation_p.Q575E						575								p.Q575E(1)									CTTCGCTCCTGAGGGAAAAGT	0.512													3	41					0	0	1	0	0	C	75565368	G	C	75565368	3	2	120	1	0	0	0	0	1	0	0	0	10303	1299	45	5	960	5	NDST2	10	75565368	Missense_Mutation	SNP	G	TCGA-DU-7309-01A-11D-2086-08		75565368	59969379	23	21048											
IFIT5	24138	broad.mit.edu	37	10	91178137	91178137	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr10:91178137A>G	ENST00000371795.4	+	2	1394	c.1181A>G	c.(1180-1182)aAt>aGt	p.N394S	IFIT5_ENST00000416601.1_Missense_Mutation_p.N346S	NM_012420.2	NP_036552.1	Q13325	IFIT5_HUMAN	interferon-induced protein with tetratricopeptide repeats 5	394							binding			endometrium(1)|large_intestine(4)|lung(4)	9						AAATCAGAAAATACTGCCATC	0.423													3	53					0	0	1	0	0	G	91178137	A	G	91178137	3	3	120	1	0	0	0	0	1	0	0	0	7569	101	4	3	1187	3	IFIT5	10	91178137	Missense_Mutation	SNP	A	TCGA-DU-7309-01A-11D-2086-08	15612769	91178137	44356610	24	21049											
SCD	6319	broad.mit.edu	37	10	102112184	102112184	+	Silent	SNP	C	C	T			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr10:102112184C>T	ENST00000370355.2	+	3	753	c.372C>T	c.(370-372)agC>agT	p.S124S		NM_005063.4	NP_005054.3	O00767	ACOD_HUMAN	stearoyl-CoA desaturase (delta-9-desaturase)	124					fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	iron ion binding|stearoyl-CoA 9-desaturase activity			endometrium(1)|large_intestine(3)|lung(5)	9		Colorectal(252;0.0323)		Epithelial(162;1.97e-10)|all cancers(201;1.73e-08)		GTCTGTGGAGCCACCGCTCTT	0.522													67	119					0	0	1	0	0	T	102112184	C	T	102112184	2	4	120	1	0	0	0	0	0	0	0	1	13939	738	26	2		2	SCD	10	102112184	Silent	SNP	C	TCGA-DU-7309-01A-11D-2086-08	10934047	102112184	33422563	25	21050											
ABLIM1	3983	broad.mit.edu	37	10	116207683	116207683	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr10:116207683A>G	ENST00000533213.2	-	15	1812	c.1511T>C	c.(1510-1512)aTt>aCt	p.I504T	ABLIM1_ENST00000392952.3_Missense_Mutation_p.I241T|ABLIM1_ENST00000277895.5_Missense_Mutation_p.I564T|ABLIM1_ENST00000369266.3_Missense_Mutation_p.I241T|ABLIM1_ENST00000369253.2_Missense_Mutation_p.I187T|ABLIM1_ENST00000369252.4_Missense_Mutation_p.I504T			O14639	ABLM1_HUMAN	actin binding LIM protein 1	564					axon guidance|cytoskeleton organization|organ morphogenesis|visual perception	actin cytoskeleton|cytoplasm	actin binding|zinc ion binding			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	30		Colorectal(252;0.0373)|Breast(234;0.231)		Epithelial(162;0.0132)|all cancers(201;0.0383)		GTCCGTCTCAATCTTTGGTGT	0.547													4	87					0	0	1	0	0	G	116207683	A	G	116207683	3	3	120	1	0	0	0	0	1	0	0	0	94	101	4	3	677	3	ABLIM1	10	116207683	Missense_Mutation	SNP	A	TCGA-DU-7309-01A-11D-2086-08	14095499	116207683	19327064	26	21051											
SLC39A13	91252	broad.mit.edu	37	11	47434972	47434972	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr11:47434972G>A	ENST00000524928.1	+	4	569	c.559G>A	c.(559-561)Gct>Act	p.A187T	SLC39A13_ENST00000533076.1_Missense_Mutation_p.A187T|SLC39A13_ENST00000354884.4_Missense_Mutation_p.A187T|SLC39A13_ENST00000362021.4_Missense_Mutation_p.A187T|SLC39A13_ENST00000529740.1_3'UTR			Q96H72	S39AD_HUMAN	solute carrier family 39 (zinc transporter), member 13	187	Poly-Ala.				zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			breast(1)|kidney(1)|lung(1)|prostate(1)	4				Lung(87;0.0936)		AGACCCCACTGCTGCTGCCGC	0.657													13	31					0	0	1	0	0	A	47434972	G	A	47434972	3	1	120	1	0	0	0	0	1	0	0	0	14671	1319	46	2	573	2	SLC39A13	11	47434972	Missense_Mutation	SNP	G	TCGA-DU-7309-01A-11D-2086-08		47434972	87571544	27	21052											
ERC1	23085	broad.mit.edu	37	12	1219448	1219448	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr12:1219448G>A	ENST00000397203.2	+	5	1658	c.1252G>A	c.(1252-1254)Gaa>Aaa	p.E418K	ERC1_ENST00000543086.3_Missense_Mutation_p.E418K|ERC1_ENST00000355446.5_Missense_Mutation_p.E418K|ERC1_ENST00000360905.4_Missense_Mutation_p.E418K|ERC1_ENST00000536573.2_3'UTR|ERC1_ENST00000589028.1_Missense_Mutation_p.E418K|ERC1_ENST00000546231.2_Missense_Mutation_p.E418K			Q8IUD2	RB6I2_HUMAN	ELKS/RAB6-interacting/CAST family member 1	418					I-kappaB phosphorylation|multicellular organismal development|positive regulation of anti-apoptosis|positive regulation of NF-kappaB transcription factor activity|protein transport	Golgi membrane|IkappaB kinase complex|presynaptic membrane	leucine zipper domain binding			NS(1)|breast(2)|cervix(2)|endometrium(2)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_epithelial(11;0.0698)|Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567)			GAGTACTGAGGAAAGGGAAGA	0.388													7	52					0	0	1	0	0	A	1219448	G	A	1219448	3	1	120	1	0	0	0	0	1	0	0	0	5238	1175	41	2	1266	2	ERC1	12	1219448	Missense_Mutation	SNP	G	TCGA-DU-7309-01A-11D-2086-08		1219448	132632447	28	21053											
PLCZ1	89869	broad.mit.edu	37	12	18854628	18854628	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr12:18854628C>T	ENST00000266505.7	-	8	1210	c.947G>A	c.(946-948)cGt>cAt	p.R316H	PLCZ1_ENST00000538330.1_Missense_Mutation_p.R57H|PLCZ1_ENST00000539875.1_Missense_Mutation_p.R123H|PLCZ1_ENST00000447925.2_Missense_Mutation_p.R314H|PLCZ1_ENST00000542762.1_5'UTR|PLCZ1_ENST00000541695.1_Missense_Mutation_p.R179H|PLCZ1_ENST00000435379.1_Missense_Mutation_p.R121H			Q86YW0	PLCZ1_HUMAN	phospholipase C, zeta 1	316					intracellular signal transduction|lipid catabolic process|multicellular organismal development	nucleus|perinuclear region of cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)					CACCTTACCACGCTTATCAGA	0.413													4	19					0	0	1	0	0	T	18854628	C	T	18854628	3	4	120	1	0	0	0	0	1	0	0	0	12092	536	19	1	911	1	PLCZ1	12	18854628	Missense_Mutation	SNP	C	TCGA-DU-7309-01A-11D-2086-08	17635180	18854628	114997267	29	21054											
TFCP2	7024	broad.mit.edu	37	12	51497961	51497961	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr12:51497961C>G	ENST00000307660.4	-	8	1510	c.790G>C	c.(790-792)Gag>Cag	p.E264Q	TFCP2_ENST00000257915.5_Missense_Mutation_p.E315Q|TFCP2_ENST00000548115.1_Missense_Mutation_p.E264Q|TFCP2_ENST00000549867.1_Intron	NM_001173453.1	NP_001166924.1	Q12800	TFCP2_HUMAN	transcription factor CP2	315	DNA-binding.				regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)	23						GGGGGTGGCTCTGGCTGGTGG	0.418													6	135					0	0	1	0	0	G	51497961	C	G	51497961	3	3	120	1	0	0	0	0	1	0	0	0	15855	922	32	4	593	4	TFCP2	12	51497961	Missense_Mutation	SNP	C	TCGA-DU-7309-01A-11D-2086-08	32643333	51497961	82353934	30	21055											
KRT84	3890	broad.mit.edu	37	12	52779179	52779179	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr12:52779179C>A	ENST00000257951.3	-	1	257	c.191G>T	c.(190-192)cGg>cTg	p.R64L	RP3-416H24.4_ENST00000547174.1_RNA	NM_033045.3	NP_149034.2	Q9NSB2	KRT84_HUMAN	keratin 84	64	Head.					keratin filament	structural constituent of epidermis			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(10)|skin(3)	27	all_hematologic(5;0.12)			BRCA - Breast invasive adenocarcinoma(357;0.189)		AGCTGCTATCCGGGGTGAGTA	0.597													3	61					1	1	1	1	0	A	52779179	C	A	52779179	3	1	120	1	0	0	0	0	1	0	0	0	8541	652	23	5	1647	5	KRT84	12	52779179	Missense_Mutation	SNP	C	TCGA-DU-7309-01A-11D-2086-08	1281218	52779179	81072716	31	21056											
KRT6C	286887	broad.mit.edu	37	12	52863046	52863046	+	Missense_Mutation	SNP	C	C	T	rs140943956	byFrequency	TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr12:52863046C>T	ENST00000252250.6	-	9	1542	c.1495G>A	c.(1495-1497)Ggt>Agt	p.G499S		NM_173086.4	NP_775109.2	P48668	K2C6C_HUMAN	keratin 6C	499	Tail.				cytoskeleton organization	keratin filament	structural molecule activity	p.G499S(1)		cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|prostate(2)|skin(2)	23				BRCA - Breast invasive adenocarcinoma(357;0.0828)		CCGCTGGCACCGCCATAGCCA	0.612													7	30					0	0	1	0	0	T	52863046	C	T	52863046	3	4	120	1	0	0	0	0	1	0	0	0	8525	652	23	1	203	1	KRT6C	12	52863046	Missense_Mutation	SNP	C	TCGA-DU-7309-01A-11D-2086-08	83867	52863046	80988849	32	21057											
PA2G4	5036	broad.mit.edu	37	12	56501319	56501319	+	Silent	SNP	A	A	G			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr12:56501319A>G	ENST00000303305.6	+	5	827	c.408A>G	c.(406-408)acA>acG	p.T136T	RP11-603J24.9_ENST00000548861.1_Silent_p.T117T|PA2G4_ENST00000552766.1_Silent_p.T136T|RP11-603J24.17_ENST00000548595.1_RNA	NM_006191.2	NP_006182.2	Q9UQ80	PA2G4_HUMAN	proliferation-associated 2G4, 38kDa	136					cell cycle arrest|cell proliferation|negative regulation of transcription, DNA-dependent|regulation of translation|rRNA processing	cytoplasm|nucleolus|ribonucleoprotein complex	DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|ubiquitin protein ligase binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(18;0.0739)			CCCAAGTAACAGGGAGGAAAG	0.453													20	128					0	0	1	0	0	G	56501319	A	G	56501319	2	3	120	1	0	0	0	0	0	0	0	1	11408	175	7	3		3	PA2G4	12	56501319	Silent	SNP	A	TCGA-DU-7309-01A-11D-2086-08	3638273	56501319	77350576	33	21058											
MDM2	4193	broad.mit.edu	37	12	69229630	69229630	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr12:69229630G>C	ENST00000462284.1	+	9	1008	c.706G>C	c.(706-708)Gaa>Caa	p.E236Q	MDM2_ENST00000428863.2_Missense_Mutation_p.E35Q|MDM2_ENST00000356290.4_Missense_Mutation_p.E60Q|MDM2_ENST00000393410.1_Intron|MDM2_ENST00000360430.2_Missense_Mutation_p.E35Q|MDM2_ENST00000545204.1_Intron|MDM2_ENST00000258149.5_Missense_Mutation_p.E175Q|MDM2_ENST00000393413.3_Intron|MDM2_ENST00000299252.4_Missense_Mutation_p.E60Q|MDM2_ENST00000393412.3_Intron|MDM2_ENST00000540827.1_Missense_Mutation_p.E35Q|MDM2_ENST00000258148.7_Missense_Mutation_p.E181Q|MDM2_ENST00000350057.5_Missense_Mutation_p.E205Q|MDM2_ENST00000544561.1_Intron|MDM2_ENST00000478070.1_Intron|MDM2_ENST00000348801.2_Missense_Mutation_p.E30Q|MDM2_ENST00000517852.1_Intron	NM_002392.4	NP_002383.2	Q00987	MDM2_HUMAN	MDM2 oncogene, E3 ubiquitin protein ligase	230	ARF-binding.|Interaction with MTBP (By similarity).				cellular response to hypoxia|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|establishment of protein localization|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell cycle arrest|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mitotic cell cycle|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein complex assembly|protein destabilization|protein localization to nucleus|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to antibiotic|synaptic transmission	cytosol|endocytic vesicle membrane|insoluble fraction|nucleolus|nucleoplasm|plasma membrane|protein complex	enzyme binding|identical protein binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(8)|prostate(1)|urinary_tract(1)	19	all_cancers(1;8.46e-121)|all_epithelial(5;3.21e-36)|Lung NSC(4;2.16e-33)|all_lung(4;3.03e-31)|Glioma(1;1.9e-09)|Breast(13;1.59e-06)|all_neural(1;1.03e-05)|Melanoma(1;0.0171)|Renal(347;0.0684)		all cancers(2;8.67e-65)|GBM - Glioblastoma multiforme(2;8.89e-62)|BRCA - Breast invasive adenocarcinoma(5;2.43e-08)|Lung(24;1.5e-05)|LUAD - Lung adenocarcinoma(15;8.5e-05)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)			TGGTGTAAGTGAACATTCAGG	0.363			A		"sarcoma, glioma, colorectal, other"								4	112					0	0	1	0	0	C	69229630	G	C	69229630	3	2	120	1	0	0	0	0	1	0	0	0	9463	1291	45	5	740	5	MDM2	12	69229630	Missense_Mutation	SNP	G	TCGA-DU-7309-01A-11D-2086-08	12728311	69229630	64622265	34	21059											
SLC7A8	23428	broad.mit.edu	37	14	23598869	23598869	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr14:23598869C>T	ENST00000316902.7	-	9	1978	c.1253G>A	c.(1252-1254)cGc>cAc	p.R418H	SLC7A8_ENST00000469263.1_Intron|SLC7A8_ENST00000422941.2_Missense_Mutation_p.R194H|SLC7A8_ENST00000529705.2_Missense_Mutation_p.R313H|SLC7A8_ENST00000453702.1_Missense_Mutation_p.R215H	NM_012244.3	NP_036376.2	Q9UHI5	LAT2_HUMAN	solute carrier family 7 (amino acid transporter light chain, L system), member 8	418					blood coagulation|cellular amino acid metabolic process|leukocyte migration|metal ion homeostasis|response to toxin	basolateral plasma membrane|cytoplasm|integral to plasma membrane	neutral amino acid transmembrane transporter activity|organic cation transmembrane transporter activity|peptide antigen binding|protein binding|toxin transporter activity			autonomic_ganglia(1)|endometrium(6)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|skin(1)	24	all_cancers(95;4.6e-05)			GBM - Glioblastoma multiforme(265;0.00809)	L-Alanine(DB00160)|L-Glutamine(DB00130)|L-Phenylalanine(DB00120)	CTTGATGGGGCGGGGGATATC	0.498													5	163					0	0	1	0	0	T	23598869	C	T	23598869	3	4	120	1	0	0	0	0	1	0	0	0	14759	768	27	1	366	1	SLC7A8	14	23598869	Missense_Mutation	SNP	C	TCGA-DU-7309-01A-11D-2086-08		23598869	83750671	35	21060											
DISP2	85455	broad.mit.edu	37	15	40661464	40661464	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr15:40661464C>T	ENST00000267889.3	+	8	3238	c.3151C>T	c.(3151-3153)Cgt>Tgt	p.R1051C	RP11-64K12.4_ENST00000558421.1_RNA	NM_033510.1	NP_277045.1	A7MBM2	DISP2_HUMAN	dispatched homolog 2 (Drosophila)	1051					smoothened signaling pathway	integral to membrane				breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)	30		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)		CCGCCTGAGCCGTGTGGCCTT	0.632													5	167					0	0	1	0	0	T	40661464	C	T	40661464	3	4	120	1	0	0	0	0	1	0	0	0	4568	652	23	1	3181	1	DISP2	15	40661464	Missense_Mutation	SNP	C	TCGA-DU-7309-01A-11D-2086-08		40661464	61869928	36	21061											
BNIP2	663	broad.mit.edu	37	15	59961125	59961125	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr15:59961125T>C	ENST00000267859.3	-	9	1315	c.1222A>G	c.(1222-1224)Atg>Gtg	p.M408V	BNIP2_ENST00000478981.1_5'UTR|AC092755.4_ENST00000441746.1_RNA|BNIP2_ENST00000415213.2_Missense_Mutation_p.M349V|BNIP2_ENST00000607373.1_Missense_Mutation_p.M287V			Q12982	BNIP2_HUMAN	BCL2/adenovirus E1B 19kDa interacting protein 2	287					anti-apoptosis|apoptosis|positive regulation of muscle cell differentiation	nuclear envelope|perinuclear region of cytoplasm	calcium ion binding|GTPase activator activity|protein binding			NS(1)|large_intestine(2)|lung(5)|ovary(1)	9						ACGTATTCCATGGGGACAAGT	0.308													27	47					0	0	1	0	0	C	59961125	T	C	59961125	3	2	120	1	0	0	0	0	1	0	0	0	1476	1464	51	3	93	3	BNIP2	15	59961125	Missense_Mutation	SNP	T	TCGA-DU-7309-01A-11D-2086-08	19299661	59961125	42570267	37	21062											
TLN2	83660	broad.mit.edu	37	15	63127959	63127959	+	Silent	SNP	T	T	C			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr15:63127959T>C	ENST00000561311.1	+	55	7382	c.7152T>C	c.(7150-7152)gcT>gcC	p.A2384A	TLN2_ENST00000306829.6_Silent_p.A2384A|RP11-1069G10.1_ENST00000558404.1_RNA			Q9Y4G6	TLN2_HUMAN	talin 2	2384	I/LWEQ.				cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						CTGCCAATGCTGCAGACGACG	0.602													40	194					0	0	1	0	0	C	63127959	T	C	63127959	2	2	120	1	0	0	0	0	0	0	0	1	16008	1567	55	3		3	TLN2	15	63127959	Silent	SNP	T	TCGA-DU-7309-01A-11D-2086-08	3166834	63127959	39403433	38	21063											
IDH2	3418	broad.mit.edu	37	15	90631837	90631837	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr15:90631837C>A	ENST00000330062.3	-	4	629	c.516G>T	c.(514-516)agG>agT	p.R172S	IDH2_ENST00000540499.2_Missense_Mutation_p.R120S|IDH2_ENST00000539790.1_Missense_Mutation_p.R42S|IDH2_ENST00000559482.1_Intron	NM_002168.2	NP_002159.2	P48735	IDHP_HUMAN	isocitrate dehydrogenase 2 (NADP+), mitochondrial	172					2-oxoglutarate metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding	p.R172S(17)|p.R172N(1)		biliary_tract(11)|bone(19)|central_nervous_system(107)|endometrium(1)|haematopoietic_and_lymphoid_tissue(953)|large_intestine(8)|lung(5)|skin(5)	1109	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.106)			CATGGGCGTGCCTGCCAATGG	0.637			M		GBM								26	43					6.32553e-13	6.60876e-13	1	1	0	A	90631837	C	A	90631837	3	1	120	1	0	0	0	0	1	0	0	0	7539	738	26	5	874	5	IDH2	15	90631837	Missense_Mutation	SNP	C	TCGA-DU-7309-01A-11D-2086-08	27503878	90631837	11899555	39	21064											
ACSM1	116285	broad.mit.edu	37	16	20648161	20648161	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr16:20648161A>G	ENST00000219151.4	-	10	1362	c.152T>C	c.(151-153)gTc>gCc	p.V51A	ACSM1_ENST00000307493.4_Splice_Site_p.V400A|ACSM1_ENST00000520010.1_Splice_Site_p.V400A			Q08AH1	ACSM1_HUMAN	acyl-CoA synthetase medium-chain family member 1	400					benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process	mitochondrial matrix	acyl-CoA ligase activity|ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						GTCATCAATGACCTGTAGCAA	0.527													22	45					0	0	1	0	0	G	20648161	A	G	20648161	3	3	120	1	0	0	0	0	1	0	0	0	182	289	10	3	554	3	ACSM1	16	20648161	Missense_Mutation	SNP	A	TCGA-DU-7309-01A-11D-2086-08		20648161	69706592	40	21065											
DNAH3	55567	broad.mit.edu	37	16	20990739	20990739	+	Silent	SNP	C	C	T			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr16:20990739C>T	ENST00000261383.3	-	50	7988	c.7989G>A	c.(7987-7989)acG>acA	p.T2663T	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2663	Stalk (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TATTCAGGAGCGTCTTGAAGG	0.478													6	87					0	0	1	0	0	T	20990739	C	T	20990739	2	4	120	1	0	0	0	0	0	0	0	1	4631	755	27	1		1	DNAH3	16	20990739	Silent	SNP	C	TCGA-DU-7309-01A-11D-2086-08	342578	20990739	69364014	41	21066											
FAM57B	83723	broad.mit.edu	37	16	30037991	30037991	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr16:30037991T>C	ENST00000380495.4	-	3	1114	c.383A>G	c.(382-384)aAg>aGg	p.K128R	FAM57B_ENST00000279389.4_Missense_Mutation_p.K78R|FAM57B_ENST00000564806.1_Missense_Mutation_p.K78R	NM_031478.4	NP_113666.2	Q71RH2	FA57B_HUMAN	family with sequence similarity 57, member B	128	TLC.					endoplasmic reticulum|integral to membrane				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	14						GAGGAACTCCTTGTGCAGGTA	0.677													18	40					0	0	1	0	0	C	30037991	T	C	30037991	3	2	120	1	0	0	0	0	1	0	0	0	5624	1609	56	3	453	3	FAM57B	16	30037991	Missense_Mutation	SNP	T	TCGA-DU-7309-01A-11D-2086-08	9047252	30037991	60316762	42	21067											
GNAO1	2775	broad.mit.edu	37	16	56226231	56226231	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr16:56226231C>G	ENST00000262494.7	+	1	344	c.84C>G	c.(82-84)atC>atG	p.I28M	GNAO1_ENST00000569295.1_3'UTR|GNAO1_ENST00000262493.6_Missense_Mutation_p.I28M	NM_138736.2	NP_620073.2	P09471	GNAO_HUMAN	guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O	28					dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|muscle contraction	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|metabotropic serotonin receptor binding|signal transducer activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)	17		all_neural(199;0.159)				AGGATGGCATCAGCGCCGCCA	0.637													29	37					0	0	1	0	0	G	56226231	C	G	56226231	3	3	120	1	0	0	0	0	1	0	0	0	6550	816	29	5	86	5	GNAO1	16	56226231	Missense_Mutation	SNP	C	TCGA-DU-7309-01A-11D-2086-08	26188240	56226231	34128522	43	21068											
TP53	7157	broad.mit.edu	37	17	7577538	7577538	+	Missense_Mutation	SNP	C	C	T	rs11540652		TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr17:7577538C>T	ENST00000420246.2	-	7	875	c.743G>A	c.(742-744)cGg>cAg	p.R248Q	TP53_ENST00000269305.4_Missense_Mutation_p.R248Q|TP53_ENST00000413465.2_Missense_Mutation_p.R248Q|TP53_ENST00000455263.2_Missense_Mutation_p.R248Q|TP53_ENST00000445888.2_Missense_Mutation_p.R248Q|TP53_ENST00000359597.4_Missense_Mutation_p.R248Q	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	248	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R248Q(580)|p.R248L(75)|p.R248P(19)|p.R155Q(18)|p.0?(8)|p.?(5)|p.R155L(3)|p.R155P(2)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248fs*>39(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(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)		GATGGGCCTCCGGTTCATGCC	0.572	R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	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)			62	32					0	0	1	0	0	T	7577538	C	T	7577538	3	4	120	1	0	0	0	0	1	0	0	0	16442	652	23	1	547	1	TP53	17	7577538	Missense_Mutation	SNP	C	TCGA-DU-7309-01A-11D-2086-08		7577538	73617672	44	21069											
ZACN	353174	broad.mit.edu	37	17	74076491	74076492	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr17:74076491_74076492delCT	ENST00000334586.5	+	5	613_614	c.530_531delCT	c.(529-531)gctfs	p.A177fs	ZACN_ENST00000392503.2_Intron	NM_180990.3	NP_851321.2	Q401N2	ZACN_HUMAN	zinc activated ligand-gated ion channel	177					response to zinc ion	integral to membrane|membrane fraction|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	11						AGCTTCTACGCTCTCAGCAACA	0.644													60	94	---	---	---	---						-	74076492	CT	-	74076491	7	5	120	1	0	1	0	1	0	0	0	0	17570	797	28	0	548	0	ZACN	17	74076491	Frame_Shift_Del	DEL	CT	TCGA-DU-7309-01A-11D-2086-08	66498953	74076491	7118719	45	21070											
EPB41L3	23136	broad.mit.edu	37	18	5397173	5397173	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr18:5397173C>G	ENST00000341928.2	-	18	3065	c.2725G>C	c.(2725-2727)Gtc>Ctc	p.V909L	EPB41L3_ENST00000342933.3_Missense_Mutation_p.V909L|EPB41L3_ENST00000400111.3_Missense_Mutation_p.V687L|EPB41L3_ENST00000427684.2_Missense_Mutation_p.V206L|EPB41L3_ENST00000544123.1_Missense_Mutation_p.V740L|EPB41L3_ENST00000540638.2_Missense_Mutation_p.V687L|EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000542146.1_Missense_Mutation_p.V214L	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	909	Carboxyl-terminal (CTD).				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						GCTTTAGCGACCTCCTCCCCT	0.567													7	110					0	0	1	0	0	G	5397173	C	G	5397173	3	3	120	1	0	0	0	0	1	0	0	0	5182	507	18	5	558	5	EPB41L3	18	5397173	Missense_Mutation	SNP	C	TCGA-DU-7309-01A-11D-2086-08		5397173	72680075	46	21071											
VAV1	7409	broad.mit.edu	37	19	6828446	6828446	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr19:6828446C>T	ENST00000304076.2	+	11	1134	c.1040C>T	c.(1039-1041)aCg>aTg	p.T347M	VAV1_ENST00000596764.1_Missense_Mutation_p.T315M|VAV1_ENST00000539284.1_Missense_Mutation_p.T250M|VAV1_ENST00000602142.1_Missense_Mutation_p.T347M|VAV1_ENST00000599806.1_Missense_Mutation_p.T292M	NM_001258206.1	NP_001245135.1	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	347	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity	p.T347M(1)		biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						GTGAAACACACGCAGGAGGCG	0.622													5	56					0	0	1	0	0	T	6828446	C	T	6828446	3	4	120	1	0	0	0	0	1	0	0	0	17191	536	19	1	1082	1	VAV1	19	6828446	Missense_Mutation	SNP	C	TCGA-DU-7309-01A-11D-2086-08		6828446	52300537	47	21072											
ICAM5	7087	broad.mit.edu	37	19	10402433	10402433	+	Silent	SNP	C	C	T			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr19:10402433C>T	ENST00000221980.4	+	3	684	c.621C>T	c.(619-621)caC>caT	p.H207H		NM_003259.3	NP_003250.3	Q9UMF0	ICAM5_HUMAN	intercellular adhesion molecule 5, telencephalin	207	Ig-like C2-type 2.				cell-cell adhesion	integral to plasma membrane				breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)			TGCGGCCGCACGGACTGGGAC	0.672													3	64					0	0	1	0	0	T	10402433	C	T	10402433	2	4	120	1	0	0	0	0	0	0	0	1	7527	535	19	1		1	ICAM5	19	10402433	Silent	SNP	C	TCGA-DU-7309-01A-11D-2086-08	3573987	10402433	48726550	48	21073											
CGB7	94027	broad.mit.edu	37	19	49557632	49557632	+	Silent	SNP	G	G	T			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr19:49557632G>T	ENST00000356213.4	-	5	3285	c.408C>A	c.(406-408)tcC>tcA	p.S136S	CGB7_ENST00000377280.3_Silent_p.S138S|CGB7_ENST00000597853.1_Silent_p.S138S|CGB7_ENST00000596965.1_Silent_p.S138S					chorionic gonadotropin, beta polypeptide 7											lung(3)|urinary_tract(2)	5		all_epithelial(76;9.62e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427)		TTGAGGAAGAGGAGGCCTGGA	0.637													3	61					0.00024832	0.000251919	1	1	0	T	49557632	G	T	49557632	2	4	120	1	0	0	0	0	0	0	0	1	3322	987	35	4		4	CGB7	19	49557632	Silent	SNP	G	TCGA-DU-7309-01A-11D-2086-08	39155199	49557632	9571351	49	21074											
PYGB	5834	broad.mit.edu	37	20	25261592	25261592	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr20:25261592C>G	ENST00000216962.4	+	11	1357	c.1247C>G	c.(1246-1248)gCc>gGc	p.A416G		NM_002862.3	NP_002853.2	P11216	PYGB_HUMAN	phosphorylase, glycogen; brain	416					glucose metabolic process|glycogen catabolic process	cytoplasm	glycogen phosphorylase activity|pyridoxal phosphate binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	31					Pyridoxal Phosphate(DB00114)	CAGCACGTGGCCGCGCTGTTT	0.647													23	151					0	0	1	0	0	G	25261592	C	G	25261592	3	3	120	1	0	0	0	0	1	0	0	0	12912	739	26	5	1289	5	PYGB	20	25261592	Missense_Mutation	SNP	C	TCGA-DU-7309-01A-11D-2086-08		25261592	37763928	50	21075											
UMODL1	89766	broad.mit.edu	37	21	43519274	43519274	+	Silent	SNP	G	G	A			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr21:43519274G>A	ENST00000400424.2	+	7	1350	c.954G>A	c.(952-954)acG>acA	p.T318T	UMODL1_ENST00000408910.2_Silent_p.T390T|UMODL1_ENST00000400427.1_Silent_p.T318T|UMODL1_ENST00000408989.2_Silent_p.T390T	NM_001199528.2	NP_001186457	Q5DID0	UROL1_HUMAN	uromodulin-like 1		Fibronectin type-III 1.					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						TCTCCACCACGCTGACCATCA	0.607													3	64					0	0	1	0	0	A	43519274	G	A	43519274	2	1	120	1	0	0	0	0	0	0	0	1	17040	1074	38	1		1	UMODL1	21	43519274	Silent	SNP	G	TCGA-DU-7309-01A-11D-2086-08		43519274	4610621	51	21076											
NF2	4771	broad.mit.edu	37	22	30077486	30077486	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr22:30077486G>A	ENST00000338641.4	+	15	2074	c.1633G>A	c.(1633-1635)Gaa>Aaa	p.E545K	NF2_ENST00000334961.7_Missense_Mutation_p.E462K|NF2_ENST00000361676.4_Missense_Mutation_p.E503K|NF2_ENST00000353887.4_Missense_Mutation_p.E462K|NF2_ENST00000397789.3_Missense_Mutation_p.E545K|NF2_ENST00000347330.5_3'UTR|NF2_ENST00000361452.4_Missense_Mutation_p.E504K|NF2_ENST00000361166.4_Missense_Mutation_p.E545K|NF2_ENST00000403999.3_Missense_Mutation_p.E545K|NF2_ENST00000413209.2_Intron|NF2_ENST00000403435.1_Missense_Mutation_p.E516K	NM_000268.3|NM_016418.5|NM_181832.2	NP_000259.1|NP_057502.2|NP_861970.1	P35240	MERL_HUMAN	neurofibromin 2 (merlin)	545					actin cytoskeleton organization|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of cell-matrix adhesion|negative regulation of DNA replication|negative regulation of tyrosine phosphorylation of Stat3 protein|negative regulation of tyrosine phosphorylation of Stat5 protein|positive regulation of stress fiber assembly|regulation of hippo signaling cascade|Schwann cell proliferation	cytoskeleton|early endosome|extrinsic to membrane|filopodium membrane|nucleolus|perinuclear region of cytoplasm|ruffle membrane	cytoskeletal protein binding|protein binding	p.?(3)|p.K525fs*18(1)		NS(1)|bone(2)|breast(5)|central_nervous_system(21)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(17)|large_intestine(9)|liver(1)|lung(9)|meninges(372)|ovary(2)|pituitary(1)|pleura(9)|prostate(1)|skin(7)|soft_tissue(303)|stomach(2)|thyroid(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	776						ACTCAAGACAGAAATCGAGGC	0.498			"D, Mis, N, F, S, O"		"meningioma, acoustic neuroma, renal "	"meningioma, acoustic neuroma"			Neurofibromatosis, type 2				5	134					0	0	1	0	0	A	30077486	G	A	30077486	3	1	120	1	0	0	0	0	1	0	0	0	10404	943	33	2	1691	2	NF2	22	30077486	Missense_Mutation	SNP	G	TCGA-DU-7309-01A-11D-2086-08		30077486	21227080	52	21077											
AR	367	broad.mit.edu	37	X	66765383	66765383	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chrX:66765383T>C	ENST00000374690.3	+	1	919	c.395T>C	c.(394-396)gTc>gCc	p.V132A	AR_ENST00000504326.1_Missense_Mutation_p.V132A|AR_ENST00000513847.1_3'UTR|AR_ENST00000396044.3_Missense_Mutation_p.V132A	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN	androgen receptor	130	Modulating.				cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport	cytoplasm|nuclear chromatin|nucleoplasm	androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624)	AGAGGTTGCGTCCCAGAGCCT	0.677									Androgen Insensitivity Syndrome				3	2					0	0	1	0	0	C	66765383	T	C	66765383	3	2	120	1	0	0	0	0	1	0	0	0	833	1667	58	3	397	3	AR	23	66765383	Missense_Mutation	SNP	T	TCGA-DU-7309-01A-11D-2086-08		66765383	88505177	53	21078											
TEX11	56159	broad.mit.edu	37	X	70073157	70073157	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chrX:70073157C>A	ENST00000395889.2	-	7	546	c.391G>T	c.(391-393)Gaa>Taa	p.E131*	TEX11_ENST00000374333.2_Nonsense_Mutation_p.E116*|TEX11_ENST00000344304.3_Nonsense_Mutation_p.E131*	NM_001003811.1	NP_001003811.1	Q8IYF3	TEX11_HUMAN	testis expressed 11	131							protein binding			breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(13)|ovary(3)|prostate(3)|skin(3)	48	Renal(35;0.156)					TCCAACCATTCTTTTCCTATT	0.343													16	37					3.32936e-07	3.42728e-07	1	1	0	A	70073157	C	A	70073157	4	1	120	1	0	0	0	0	0	1	0	0	15833	922	32	4	2531	4	TEX11	23	70073157	Nonsense_Mutation	SNP	C	TCGA-DU-7309-01A-11D-2086-08	3307774	70073157	85197403	54	21079											
ATRX	546	broad.mit.edu	37	X	76813014	76813014	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chrX:76813014C>A	ENST00000373344.5	-	30	6821	c.6607G>T	c.(6607-6609)Gag>Tag	p.E2203*	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Nonsense_Mutation_p.E2165*	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	2203	Helicase C-terminal.				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)	TCAGTAAGCTCATTCATAGTA	0.393			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						47	57					8.04919e-23	8.53702e-23	1	1	0	A	76813014	C	A	76813014	4	1	120	1	0	0	0	0	0	1	0	0	1206	835	29	5	895	5	ATRX	23	76813014	Nonsense_Mutation	SNP	C	TCGA-DU-7309-01A-11D-2086-08	6739857	76813014	78457546	55	21080											
MBNL3	55796	broad.mit.edu	37	X	131524902	131524902	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chrX:131524902C>G	ENST00000538204.1	-	4	659	c.594G>C	c.(592-594)caG>caC	p.Q198H	RAP2C-AS1_ENST00000421483.2_RNA|MBNL3_ENST00000370844.1_Missense_Mutation_p.Q152H|MBNL3_ENST00000370849.3_Missense_Mutation_p.Q198H|MBNL3_ENST00000473364.1_5'UTR|MBNL3_ENST00000370853.3_Missense_Mutation_p.Q248H|RAP2C-AS1_ENST00000441399.2_RNA|MBNL3_ENST00000370839.3_Missense_Mutation_p.Q248H|MBNL3_ENST00000394311.2_Missense_Mutation_p.Q152H|MBNL3_ENST00000370857.3_Missense_Mutation_p.Q248H	NM_001170702.1	NP_001164173.1	Q9NUK0	MBNL3_HUMAN	muscleblind-like splicing regulator 3	248					mRNA processing|multicellular organismal development|regulation of RNA splicing|RNA splicing	Golgi apparatus|nucleus	nucleic acid binding|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|prostate(2)	16	Acute lymphoblastic leukemia(192;0.000127)					AATGGTTCATCTGATGATGAG	0.458													5	79					0	0	1	0	0	G	131524902	C	G	131524902	3	3	120	1	0	0	0	0	1	0	0	0	9405	912	32	4	401	4	MBNL3	23	131524902	Missense_Mutation	SNP	C	TCGA-DU-7309-01A-11D-2086-08	54711888	131524902	23745658	56	21081											
SRPK3	26576	broad.mit.edu	37	X	153046565	153046566	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chrX:153046565_153046566insA	ENST00000370101.3	+	1	70_71	c.24_25insA	c.(25-27)gggfs	p.G9fs	SRPK3_ENST00000489426.1_Intron|SRPK3_ENST00000370108.3_Frame_Shift_Ins_p.G9fs|SRPK3_ENST00000393786.3_Frame_Shift_Ins_p.G9fs|SRPK3_ENST00000370104.1_Frame_Shift_Ins_p.G9fs	NM_001170760.1|NM_014370.3	NP_001164231.1|NP_055185.2	Q9UPE1	SRPK3_HUMAN	SRSF protein kinase 3	9					cell differentiation|muscle organ development|muscle tissue development		ATP binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(2)|lung(4)|ovary(2)|pancreas(2)|urinary_tract(1)	13	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					CGggcggtggtggggacagcgg	0.748													2	4	---	---	---	---						A	153046566	-	A	153046565	7	5	120	1	0	1	1	0	0	0	0	0	15217	1683	59	0	26	0	SRPK3	23	153046565	Frame_Shift_Ins	INS	-	TCGA-DU-7309-01A-11D-2086-08	21521663	153046565	2223995	57	21082											
KIF1B	23095	broad.mit.edu	37	1	10386237	10386237	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chr1:10386237C>T	ENST00000377086.1	+	27	2946	c.2744C>T	c.(2743-2745)aCg>aTg	p.T915M	KIF1B_ENST00000377081.1_Missense_Mutation_p.T915M|KIF1B_ENST00000263934.6_Missense_Mutation_p.T869M			O60333	KIF1B_HUMAN	kinesin family member 1B	915					anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding	p.T869M(1)		breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		ACTTTTTCCACGGCCGATTCC	0.572													21	220					0	0	1	0	0	T	10386237	C	T	10386237	3	4	121	1	0	0	0	0	1	0	0	0	8326	536	19	1	4189	1	KIF1B	1	10386237	Missense_Mutation	SNP	C	TCGA-DU-8158-01A-11D-2253-08		10386237	238864384	1	21083											
ALDH4A1	8659	broad.mit.edu	37	1	19209803	19209803	+	Silent	SNP	G	G	A			TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chr1:19209803G>A	ENST00000375341.3	-	6	830	c.573C>T	c.(571-573)agC>agT	p.S191S	ALDH4A1_ENST00000538309.1_Silent_p.S131S|ALDH4A1_ENST00000290597.5_Silent_p.S191S|RP13-279N23.2_ENST00000494072.3_3'UTR|ALDH4A1_ENST00000454547.1_5'UTR|ALDH4A1_ENST00000538839.1_Silent_p.S191S	NM_003748.3	NP_003739.2	P30038	AL4A1_HUMAN	aldehyde dehydrogenase 4 family, member A1	191				PPS -> LPY (in Ref. 9; AA sequence).	proline biosynthetic process|proline catabolic process	mitochondrial matrix	1-pyrroline-5-carboxylate dehydrogenase activity|aldehyde dehydrogenase (NAD) activity|electron carrier activity			cervix(2)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)	15		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00479)|BRCA - Breast invasive adenocarcinoma(304;3.67e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	NADH(DB00157)	TGCTGTTGGTGCTCGGGGGCA	0.647													18	71					0	0	1	0	0	A	19209803	G	A	19209803	2	1	121	1	0	0	0	0	0	0	0	1	498	1310	46	2		2	ALDH4A1	1	19209803	Silent	SNP	G	TCGA-DU-8158-01A-11D-2253-08	8823566	19209803	230040818	2	21084			1	8		2	2	36	G		5.539834e-05
ALDH4A1	8659	broad.mit.edu	37	1	19209838	19209838	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chr1:19209838G>C	ENST00000375341.3	-	6	795	c.538C>G	c.(538-540)Ctg>Gtg	p.L180V	ALDH4A1_ENST00000538309.1_Missense_Mutation_p.L120V|ALDH4A1_ENST00000290597.5_Missense_Mutation_p.L180V|RP13-279N23.2_ENST00000494072.3_3'UTR|ALDH4A1_ENST00000454547.1_5'UTR|ALDH4A1_ENST00000538839.1_Missense_Mutation_p.L180V	NM_003748.3	NP_003739.2	P30038	AL4A1_HUMAN	aldehyde dehydrogenase 4 family, member A1	180					proline biosynthetic process|proline catabolic process	mitochondrial matrix	1-pyrroline-5-carboxylate dehydrogenase activity|aldehyde dehydrogenase (NAD) activity|electron carrier activity			cervix(2)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)	15		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00479)|BRCA - Breast invasive adenocarcinoma(304;3.67e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	NADH(DB00157)	TGCCCCTCCAGCTCCACCGCA	0.642													22	58					0	0	1	0	0	C	19209838	G	C	19209838	3	2	121	1	0	0	0	0	1	0	0	0	498	962	34	4	1193	4	ALDH4A1	1	19209838	Missense_Mutation	SNP	G	TCGA-DU-8158-01A-11D-2253-08	35	19209838	230040783	3	21085			1	8		2	2	36	G		5.539834e-05
TMEM39B	55116	broad.mit.edu	37	1	32542835	32542835	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chr1:32542835C>T	ENST00000427288.1	+	6	641	c.161C>T	c.(160-162)aCg>aTg	p.T54M	TMEM39B_ENST00000336294.5_Missense_Mutation_p.T169M|TMEM39B_ENST00000373634.4_Intron|TMEM39B_ENST00000487305.1_3'UTR|TMEM39B_ENST00000456834.2_Intron			Q9GZU3	TM39B_HUMAN	transmembrane protein 39B	169						integral to membrane				endometrium(2)|kidney(1)|lung(5)|ovary(1)|prostate(2)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				ACCGTTCTCACGGCAACAGGC	0.592													17	160					0	0	1	0	0	T	32542835	C	T	32542835	3	4	121	1	0	0	0	0	1	0	0	0	16222	536	19	1	524	1	TMEM39B	1	32542835	Missense_Mutation	SNP	C	TCGA-DU-8158-01A-11D-2253-08	13332997	32542835	216707786	4	21086											
EPHA10	284656	broad.mit.edu	37	1	38227461	38227461	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chr1:38227461C>T	ENST00000373048.4	-	3	465	c.466G>A	c.(466-468)Gcg>Acg	p.A156T	EPHA10_ENST00000427468.2_Missense_Mutation_p.A156T|EPHA10_ENST00000319637.6_Missense_Mutation_p.A156T	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN	EPH receptor A10	156						extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity			NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				TCGTCCGCCGCGATCGTGTCG	0.657													4	40					0	0	1	0	0	T	38227461	C	T	38227461	3	4	121	1	0	0	0	0	1	0	0	0	5194	768	27	1	2658	1	EPHA10	1	38227461	Missense_Mutation	SNP	C	TCGA-DU-8158-01A-11D-2253-08	5684626	38227461	211023160	5	21087											
BTBD8	284697	broad.mit.edu	37	1	92606709	92606709	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chr1:92606709G>T	ENST00000342818.3	+	7	1107	c.871G>T	c.(871-873)Gga>Tga	p.G291*	BTBD8_ENST00000540648.1_Intron	NM_183242.3	NP_899065.2	Q5XKL5	BTBD8_HUMAN	BTB (POZ) domain containing 8	291						nucleus				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)	16		all_lung(203;0.0484)|Lung NSC(277;0.126)|Glioma(108;0.222)		all cancers(265;0.0153)|Epithelial(280;0.0982)		TGGACTAGAAGGATTAAAAGA	0.299													3	58					0.150653	0.157827	1	1	0	T	92606709	G	T	92606709	4	4	121	1	0	0	0	0	0	1	0	0	1550	1001	35	4	897	4	BTBD8	1	92606709	Nonsense_Mutation	SNP	G	TCGA-DU-8158-01A-11D-2253-08	54379248	92606709	156643912	6	21088											
APOA1BP	128240	broad.mit.edu	37	1	156563279	156563279	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chr1:156563279C>A	ENST00000368235.3	+	5	639	c.596C>A	c.(595-597)cCg>cAg	p.P199Q	APOA1BP_ENST00000368233.3_Missense_Mutation_p.P199Q|APOA1BP_ENST00000368234.3_Silent_p.T180T	NM_144772.2	NP_658985.2	Q8NCW5	AIBP_HUMAN	apolipoprotein A-I binding protein	199	YjeF N-terminal.					extracellular region	protein binding			central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|urinary_tract(1)	9	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GTTCGGGAACCGTTCCACAGC	0.562													3	88					1	1	1	1	0	A	156563279	C	A	156563279	3	1	121	1	0	0	0	0	1	0	0	0	778	652	23	5	614	5	APOA1BP	1	156563279	Missense_Mutation	SNP	C	TCGA-DU-8158-01A-11D-2253-08	63956570	156563279	92687342	7	21089											
LRP1B	53353	broad.mit.edu	37	2	141274478	141274478	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chr2:141274478C>G	ENST00000389484.3	-	50	9100	c.8129G>C	c.(8128-8130)gGa>gCa	p.G2710A		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2710	LDL-receptor class A 15.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TTCATCACGTCCATCCTCACA	0.328										TSP Lung(27;0.18)			25	67					0	0	1	0	0	G	141274478	C	G	141274478	3	3	121	1	0	0	0	0	1	0	0	0	9000	855	30	5	5838	5	LRP1B	2	141274478	Missense_Mutation	SNP	C	TCGA-DU-8158-01A-11D-2253-08		141274478	101924895	8	21090											
DNAH7	56171	broad.mit.edu	37	2	196877622	196877622	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chr2:196877622C>T	ENST00000312428.6	-	10	978	c.878G>A	c.(877-879)cGt>cAt	p.R293H	DNAH7_ENST00000410072.1_Missense_Mutation_p.R293H	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	293	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						ATCAACTAAACGTAATTTTCT	0.279													16	23					0	0	1	0	0	T	196877622	C	T	196877622	3	4	121	1	0	0	0	0	1	0	0	0	4633	536	19	1	11420	1	DNAH7	2	196877622	Missense_Mutation	SNP	C	TCGA-DU-8158-01A-11D-2253-08	55603144	196877622	46321751	9	21091											
PBRM1	55193	broad.mit.edu	37	3	52597305	52597305	+	Silent	SNP	G	G	A			TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chr3:52597305G>A	ENST00000356770.4	-	23	3986	c.3984C>T	c.(3982-3984)ccC>ccT	p.P1328P	PBRM1_ENST00000409767.1_Silent_p.P1375P|PBRM1_ENST00000394830.3_Intron|PBRM1_ENST00000409114.3_Silent_p.P1375P|PBRM1_ENST00000296302.7_Silent_p.P1360P|PBRM1_ENST00000409057.1_Silent_p.P1360P|SMIM4_ENST00000476842.1_Intron|PBRM1_ENST00000410007.1_Silent_p.P1335P|PBRM1_ENST00000337303.4_Silent_p.P1360P			Q86U86	PB1_HUMAN	polybromo 1	1360					chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		TCACCTGTGGGGGTGTGTAGG	0.498			"Mis, N, F, S, D, O"		"clear cell renal carcinoma, breast"								4	64					0	0	1	0	0	A	52597305	G	A	52597305	2	1	121	1	0	0	0	0	0	0	0	1	11538	1219	43	2		2	PBRM1	3	52597305	Silent	SNP	G	TCGA-DU-8158-01A-11D-2253-08		52597305	145425125	10	21092											
CACNA1D	776	broad.mit.edu	37	3	53837571	53837571	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chr3:53837571G>C	ENST00000288139.4	+	45	5735	c.5617G>C	c.(5617-5619)Gag>Cag	p.E1873Q	CACNA1D_ENST00000544977.1_Missense_Mutation_p.E232Q|CACNA1D_ENST00000350061.5_Missense_Mutation_p.E1853Q|CACNA1D_ENST00000422281.2_Missense_Mutation_p.E1829Q	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit						axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	GGAATGCTACGAGGATGACAG	0.617													84	169					0	0	1	0	0	C	53837571	G	C	53837571	3	2	121	1	0	0	0	0	1	0	0	0	2559	1059	37	5	5903	5	CACNA1D	3	53837571	Missense_Mutation	SNP	G	TCGA-DU-8158-01A-11D-2253-08	1240266	53837571	144184859	11	21093											
HLTF	6596	broad.mit.edu	37	3	148792096	148792096	+	Silent	SNP	A	A	C			TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chr3:148792096A>C	ENST00000310053.5	-	4	628	c.435T>G	c.(433-435)ccT>ccG	p.P145P	HLTF_ENST00000465259.1_Silent_p.P145P|HLTF_ENST00000392912.2_Silent_p.P145P|HLTF_ENST00000494055.1_Silent_p.P145P	NM_003071.3|NM_139048.2	NP_003062.2|NP_620636.1	Q14527	HLTF_HUMAN	helicase-like transcription factor	145					chromatin modification|transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			TCATATGCAGAGGCATGGTAA	0.363													31	21					0	0	1	0	0	C	148792096	A	C	148792096	2	2	121	1	0	0	0	0	0	0	0	1	7256	291	11	5		5	HLTF	3	148792096	Silent	SNP	A	TCGA-DU-8158-01A-11D-2253-08	94954525	148792096	49230334	12	21094											
SLITRK3	22865	broad.mit.edu	37	3	164906713	164906713	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chr3:164906713G>T	ENST00000475390.1	-	2	2349	c.1906C>A	c.(1906-1908)Cca>Aca	p.P636T	SLITRK3_ENST00000241274.3_Missense_Mutation_p.P636T			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	636						integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						GCACTGGTTGGTGCCCCAATA	0.527										HNSCC(40;0.11)			11	31					3.07112e-06	3.32285e-06	1	1	0	T	164906713	G	T	164906713	3	4	121	1	0	0	0	0	1	0	0	0	14798	1261	44	5	1031	5	SLITRK3	3	164906713	Missense_Mutation	SNP	G	TCGA-DU-8158-01A-11D-2253-08	16114617	164906713	33115717	13	21095											
CRIPAK	285464	broad.mit.edu	37	4	1388467	1388468	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chr4:1388467_1388468delCA	ENST00000324803.4	+	1	3128_3129	c.168_169delCA	c.(166-171)ctcacafs	p.T57fs		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	57					ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus	endoplasmic reticulum|nucleus|plasma membrane	protein binding			NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			CCCGCCTGCTCACACGTGCCCA	0.644													8	1081	---	---	---	---						-	1388468	CA	-	1388467	7	5	121	1	0	1	0	1	0	0	0	0	3900	813	29	0	170	0	CRIPAK	4	1388467	Frame_Shift_Del	DEL	CA	TCGA-DU-8158-01A-11D-2253-08		1388467	189765809	14	21096											
DMGDH	29958	broad.mit.edu	37	5	78359457	78359457	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chr5:78359457C>A	ENST00000380311.4	-	2	263	c.121G>T	c.(121-123)Ggc>Tgc	p.G41C	DMGDH_ENST00000255189.3_Silent_p.T85T|DMGDH_ENST00000540686.1_Missense_Mutation_p.R11L|DMGDH_ENST00000520388.1_Intron			Q9UI17	M2GD_HUMAN	dimethylglycine dehydrogenase	243					choline metabolic process|glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|dimethylglycine dehydrogenase activity|electron carrier activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	34		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)		TAGATCCAGCCGTGAGCTCTG	0.502													3	100					1	1	1	1	0	A	78359457	C	A	78359457	3	1	121	1	0	0	0	0	1	0	0	0	4609	639	23	5	2405	5	DMGDH	5	78359457	Missense_Mutation	SNP	C	TCGA-DU-8158-01A-11D-2253-08		78359457	102555803	15	21097											
GABRA1	2554	broad.mit.edu	37	5	161324195	161324195	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chr5:161324195G>C	ENST00000428797.2	+	11	1493	c.1138G>C	c.(1138-1140)Gcc>Ccc	p.A380P	GABRA1_ENST00000437025.2_Missense_Mutation_p.A380P|GABRA1_ENST00000420560.1_Missense_Mutation_p.A380P|GABRA1_ENST00000023897.6_Missense_Mutation_p.A380P|GABRA1_ENST00000444819.1_Missense_Mutation_p.A380P|GABRA1_ENST00000393943.4_Missense_Mutation_p.A380P	NM_001127643.1	NP_001121115.1	P14867	GBRA1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 1	380					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425)	CCCTAATTTGGCCAGGGGCGA	0.458													36	118					0	0	1	0	0	C	161324195	G	C	161324195	3	2	121	1	0	0	0	0	1	0	0	0	6195	1203	42	5	1172	5	GABRA1	5	161324195	Missense_Mutation	SNP	G	TCGA-DU-8158-01A-11D-2253-08	82964738	161324195	19591065	16	21098											
TMEM217	221468	broad.mit.edu	37	6	37186714	37186714	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chr6:37186714G>C	ENST00000336655.2	-	2	132	c.93C>G	c.(91-93)atC>atG	p.I31M	TMEM217_ENST00000356757.2_Missense_Mutation_p.I31M|TMEM217_ENST00000497775.1_Intron	NM_145316.3	NP_660359.2	Q8N7C4	TM217_HUMAN	transmembrane protein 217	31						integral to membrane				endometrium(2)|kidney(1)|large_intestine(5)|lung(1)	9						TCTGTTCAAAGATGAGATACA	0.478													3	158					0	0	1	0	0	C	37186714	G	C	37186714	3	2	121	1	0	0	0	0	1	0	0	0	16200	932	33	4	608	4	TMEM217	6	37186714	Missense_Mutation	SNP	G	TCGA-DU-8158-01A-11D-2253-08		37186714	133928353	17	21099											
PGM3	5238	broad.mit.edu	37	6	83884095	83884095	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chr6:83884095G>T	ENST00000513973.1	-	10	1356	c.1240C>A	c.(1240-1242)Cag>Aag	p.Q414K	PGM3_ENST00000283977.4_Missense_Mutation_p.Q333K|PGM3_ENST00000506587.1_Missense_Mutation_p.Q442K|PGM3_ENST00000512866.1_Missense_Mutation_p.Q414K	NM_001199918.1|NM_015599.2	NP_001186847.1|NP_056414.1	O95394	AGM1_HUMAN	phosphoglucomutase 3	414					dolichol-linked oligosaccharide biosynthetic process|embryo development ending in birth or egg hatching|glucose 1-phosphate metabolic process|hemopoiesis|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	magnesium ion binding|phosphoacetylglucosamine mutase activity|phosphoglucomutase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	18		all_cancers(76;0.000504)|Acute lymphoblastic leukemia(125;3.85e-06)|all_hematologic(105;0.0017)|all_epithelial(107;0.068)		BRCA - Breast invasive adenocarcinoma(397;0.0478)		GTTCTGACCTGGTTAAACAAG	0.383													3	7					1	1	1	1	0	T	83884095	G	T	83884095	3	4	121	1	0	0	0	0	1	0	0	0	11848	1357	47	5	404	5	PGM3	6	83884095	Missense_Mutation	SNP	G	TCGA-DU-8158-01A-11D-2253-08	46697381	83884095	87230972	18	21100											
DNAH11	8701	broad.mit.edu	37	7	21640450	21640450	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chr7:21640450C>T	ENST00000328843.6	+	16	3188	c.3157C>T	c.(3157-3159)Ctc>Ttc	p.L1053F	DNAH11_ENST00000409508.3_Missense_Mutation_p.L1053F			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1053	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						GAAGCATTTTCTCTTGTATGG	0.438									Kartagener syndrome				50	135					0	0	1	0	0	T	21640450	C	T	21640450	3	4	121	1	0	0	0	0	1	0	0	0	4627	913	32	2	3219	2	DNAH11	7	21640450	Missense_Mutation	SNP	C	TCGA-DU-8158-01A-11D-2253-08		21640450	137498213	19	21101											
EGFR	1956	broad.mit.edu	37	7	55211008	55211008	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chr7:55211008A>T	ENST00000275493.2	+	3	428	c.251A>T	c.(250-252)gAg>gTg	p.E84V	EGFR_ENST00000342916.3_Missense_Mutation_p.E84V|EGFR_ENST00000455089.1_Missense_Mutation_p.E84V|EGFR_ENST00000344576.2_Missense_Mutation_p.E84V|EGFR_ENST00000454757.2_Missense_Mutation_p.E31V|EGFR_ENST00000420316.2_Missense_Mutation_p.E84V|EGFR_ENST00000442591.1_Missense_Mutation_p.E84V	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	84					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	ACCATCCAGGAGGTGGCTGGT	0.448		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			23	65					0	0	1	0	0	T	55211008	A	T	55211008	3	4	121	1	0	0	0	0	1	0	0	0	4993	304	11	5	261	5	EGFR	7	55211008	Missense_Mutation	SNP	A	TCGA-DU-8158-01A-11D-2253-08	33570558	55211008	103927655	20	21102											
SEMA3E	9723	broad.mit.edu	37	7	83119551	83119551	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chr7:83119551G>T	ENST00000307792.3	-	2	622	c.155C>A	c.(154-156)cCt>cAt	p.P52H	SEMA3E_ENST00000427262.1_5'UTR	NM_012431.2	NP_036563.1	O15041	SEM3E_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E	52	Sema.				axon guidance	extracellular space|membrane	receptor activity			breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				AAATCCAAAAGGGCTATGAAA	0.413													18	47					3.51602e-12	4.07118e-12	1	1	0	T	83119551	G	T	83119551	3	4	121	1	0	0	0	0	1	0	0	0	14082	1000	35	4	2236	4	SEMA3E	7	83119551	Missense_Mutation	SNP	G	TCGA-DU-8158-01A-11D-2253-08	27908543	83119551	76019112	21	21103											
RNF19A	25897	broad.mit.edu	37	8	101287238	101287238	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chr8:101287238G>A	ENST00000519449.1	-	4	1142	c.826C>T	c.(826-828)Cgt>Tgt	p.R276C	RNF19A_ENST00000341084.2_Missense_Mutation_p.R276C	NM_001280539.1|NM_015435.3	NP_001267468.1|NP_056250.3	Q9NV58	RN19A_HUMAN	ring finger protein 19A, RBR E3 ubiquitin protein ligase	276					microtubule cytoskeleton organization|protein modification process	centrosome|integral to membrane	ligase activity|transcription factor binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	30	all_cancers(14;3.5e-05)|all_epithelial(15;8.91e-08)|Lung NSC(17;0.000615)|all_lung(17;0.00166)		Epithelial(11;3.06e-11)|all cancers(13;5.78e-09)|OV - Ovarian serous cystadenocarcinoma(57;2.24e-05)|STAD - Stomach adenocarcinoma(118;0.0525)			GTTCTCAAACGTAAGCTCTGG	0.418													24	61					0	0	1	0	0	A	101287238	G	A	101287238	3	1	121	1	0	0	0	0	1	0	0	0	13522	1145	40	1	1722	1	RNF19A	8	101287238	Missense_Mutation	SNP	G	TCGA-DU-8158-01A-11D-2253-08		101287238	45076784	22	21104											
SLC45A4	57210	broad.mit.edu	37	8	142231748	142231748	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chr8:142231748G>A	ENST00000519067.1	-	2	508	c.205C>T	c.(205-207)Cgg>Tgg	p.R69W	SLC45A4_ENST00000517878.1_Missense_Mutation_p.R120W|SLC45A4_ENST00000433583.2_Missense_Mutation_p.R62W|SLC45A4_ENST00000024061.3_Missense_Mutation_p.R69W			Q5BKX6	S45A4_HUMAN	solute carrier family 45, member 4	120					transport	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			ATGAAGGGCCGCCGGCGGCCC	0.617													6	75					0	0	1	0	0	A	142231748	G	A	142231748	3	1	121	1	0	0	0	0	1	0	0	0	14698	1086	38	1	2219	1	SLC45A4	8	142231748	Missense_Mutation	SNP	G	TCGA-DU-8158-01A-11D-2253-08	40944510	142231748	4132274	23	21105											
EPPK1	83481	broad.mit.edu	37	8	144945911	144945911	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chr8:144945911C>T	ENST00000525985.1	-	2	1582	c.1511G>A	c.(1510-1512)cGg>cAg	p.R504Q				P58107	EPIPL_HUMAN	epiplakin 1	504						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)			GGGCCGGCCCCGGAACTTCCC	0.677													8	15					0	0	1	0	0	T	144945911	C	T	144945911	3	4	121	1	0	0	0	0	1	0	0	0	5218	652	23	1	5755	1	EPPK1	8	144945911	Missense_Mutation	SNP	C	TCGA-DU-8158-01A-11D-2253-08	2714163	144945911	1418111	24	21106											
APBA1	320	broad.mit.edu	37	9	72131516	72131516	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chr9:72131516G>T	ENST00000265381.4	-	2	833	c.611C>A	c.(610-612)gCg>gAg	p.A204E		NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 1	204					axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle				endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						CAGCTCGGGCGCGTCCCCTAT	0.721													12	12					7.93312e-07	8.72643e-07	1	1	0	T	72131516	G	T	72131516	3	4	121	1	0	0	0	0	1	0	0	0	752	1087	38	5	1950	5	APBA1	9	72131516	Missense_Mutation	SNP	G	TCGA-DU-8158-01A-11D-2253-08		72131516	69081915	25	21107											
COL15A1	1306	broad.mit.edu	37	9	101778341	101778341	+	Silent	SNP	T	T	C			TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chr9:101778341T>C	ENST00000375001.3	+	11	2010	c.1587T>C	c.(1585-1587)ccT>ccC	p.P529P		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	529	4 X tandem repeats.|Nonhelical region 1 (NC1).				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				CCGGCAGCCCTCCCCCTGATG	0.572													3	60					0	0	1	0	0	C	101778341	T	C	101778341	2	2	121	1	0	0	0	0	0	0	0	1	3695	1538	54	3		3	COL15A1	9	101778341	Silent	SNP	T	TCGA-DU-8158-01A-11D-2253-08	29646825	101778341	39435090	26	21108											
CACNA1B	774	broad.mit.edu	37	9	140938299	140938299	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chr9:140938299delC	ENST00000277549.5	+	21	3505	c.936delC	c.(934-936)ggcfs	p.G312fs	CACNA1B_ENST00000545473.1_Frame_Shift_Del_p.G146fs|CACNA1B_ENST00000371363.1_Frame_Shift_Del_p.G1120fs|CACNA1B_ENST00000371355.4_Frame_Shift_Del_p.G1121fs|CACNA1B_ENST00000277551.2_Frame_Shift_Del_p.G1120fs|CACNA1B_ENST00000371372.1_Frame_Shift_Del_p.G1120fs|CACNA1B_ENST00000371357.1_Frame_Shift_Del_p.G1121fs			Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	1120					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	TGAGGAGCGGCCCCCGGCCTA	0.597													7	408	---	---	---	---						-	140938299	C	-	140938299	7	5	121	1	0	1	0	1	0	0	0	0	2557	726	26	0	3442	0	CACNA1B	9	140938299	Frame_Shift_Del	DEL	C	TCGA-DU-8158-01A-11D-2253-08	39159958	140938299	275132	27	21109											
ARMC3	219681	broad.mit.edu	37	10	23292319	23292319	+	Silent	SNP	C	C	T			TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chr10:23292319C>T	ENST00000298032.5	+	13	1791	c.1707C>T	c.(1705-1707)aaC>aaT	p.N569N	ARMC3_ENST00000409983.3_Silent_p.N569N|ARMC3_ENST00000376528.4_Silent_p.N306N|ARMC3_ENST00000409049.3_Silent_p.N569N	NM_173081.3	NP_775104.2	Q5W041	ARMC3_HUMAN	armadillo repeat containing 3	569							binding			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						ACATAATTAACGATGGATTCT	0.323													42	51					0	0	1	0	0	T	23292319	C	T	23292319	2	4	121	1	0	0	0	0	0	0	0	1	951	535	19	1		1	ARMC3	10	23292319	Silent	SNP	C	TCGA-DU-8158-01A-11D-2253-08		23292319	112242428	28	21110											
PTEN	5728	broad.mit.edu	37	10	89717715	89717716	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chr10:89717715_89717716insA	ENST00000371953.3	+	7	2097_2098	c.740_741insA	c.(739-744)ttacctfs	p.P248fs	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	248	C2 tensin-type.				activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.P248fs*5(13)|p.R55fs*1(5)|p.N212fs*1(2)|p.Y27fs*1(2)|p.L247*(2)|p.G165_*404del(1)|p.L247fs*6(1)|p.?(1)|p.L247fs*5(1)|p.L247fs*4(1)|p.L247F(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		CCTCAGCCGTTACCTGTGTGTG	0.406		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			48	53	---	---	---	---						A	89717716	-	A	89717715	7	5	121	1	0	1	1	0	0	0	0	0	12787	1764	61	0	766	0	PTEN	10	89717715	Frame_Shift_Ins	INS	-	TCGA-DU-8158-01A-11D-2253-08	66425396	89717715	45817032	29	21111											
ATG16L2	89849	broad.mit.edu	37	11	72528829	72528829	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chr11:72528829G>C	ENST00000321297.5	+	3	385	c.247G>C	c.(247-249)Gtc>Ctc	p.V83L	ATG16L2_ENST00000534905.1_Missense_Mutation_p.V83L	NM_033388.1	NP_203746.1	Q8NAA4	A16L2_HUMAN	autophagy related 16-like 2 (S. cerevisiae)	83					autophagy|protein transport	cytoplasm	protein binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)	14			BRCA - Breast invasive adenocarcinoma(5;2.73e-06)			CTCAGACCAAGTCCCATCACT	0.587													12	27					0	0	1	0	0	C	72528829	G	C	72528829	3	2	121	1	0	0	0	0	1	0	0	0	1091	1029	36	4	257	4	ATG16L2	11	72528829	Missense_Mutation	SNP	G	TCGA-DU-8158-01A-11D-2253-08		72528829	62477687	30	21112											
BCL9L	283149	broad.mit.edu	37	11	118772576	118772576	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chr11:118772576T>C	ENST00000334801.3	-	6	2840	c.1876A>G	c.(1876-1878)Atg>Gtg	p.M626V	BCL9L_ENST00000526143.1_5'UTR	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	626					negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		transcription coactivator activity			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		ATGGCATTCATGGGCACCTCC	0.622													11	23					0	0	1	0	0	C	118772576	T	C	118772576	3	2	121	1	0	0	0	0	1	0	0	0	1380	1464	51	3	2635	3	BCL9L	11	118772576	Missense_Mutation	SNP	T	TCGA-DU-8158-01A-11D-2253-08	46243747	118772576	16233940	31	21113											
WNK1	65125	broad.mit.edu	37	12	994382	994382	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chr12:994382C>T	ENST00000537687.1	+	19	5835	c.5192C>T	c.(5191-5193)cCt>cTt	p.P1731L	WNK1_ENST00000530271.2_Missense_Mutation_p.P1969L|WNK1_ENST00000340908.4_Missense_Mutation_p.P1064L|WNK1_ENST00000535572.1_Missense_Mutation_p.P1224L|WNK1_ENST00000315939.6_Missense_Mutation_p.P1471L	NM_001184985.1|NM_213655.4	NP_001171914.1|NP_998820.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	1471					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			GGTCCTAAGCCTCCAGCTGTA	0.507													27	82					0	0	1	0	0	T	994382	C	T	994382	3	4	121	1	0	0	0	0	1	0	0	0	17437	681	24	2	5988	2	WNK1	12	994382	Missense_Mutation	SNP	C	TCGA-DU-8158-01A-11D-2253-08		994382	132857513	32	21114											
PSMC6	5706	broad.mit.edu	37	14	53175072	53175072	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chr14:53175072A>G	ENST00000445930.2	+	2	179	c.173A>G	c.(172-174)gAa>gGa	p.E58G	PSMC6_ENST00000606149.1_Missense_Mutation_p.E44G			P62333	PRS10_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 6	44					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding, bridging			breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)	19	Breast(41;0.176)					GAAAAGTCTGAAAATGATCTG	0.353													20	18					0	0	1	0	0	G	53175072	A	G	53175072	3	3	121	1	0	0	0	0	1	0	0	0	12740	246	9	3	179	3	PSMC6	14	53175072	Missense_Mutation	SNP	A	TCGA-DU-8158-01A-11D-2253-08		53175072	54174468	33	21115											
COPS2	9318	broad.mit.edu	37	15	49447771	49447771	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chr15:49447771G>C	ENST00000388901.5	-	1	78	c.5C>G	c.(4-6)tCt>tGt	p.S2C	COPS2_ENST00000299259.6_Missense_Mutation_p.S2C|COPS2_ENST00000542928.1_Missense_Mutation_p.S2C	NM_001143887.1|NM_004236.3	NP_001137359.1|NP_004227.1	P61201	CSN2_HUMAN	COP9 signalosome subunit 2	2					cullin deneddylation|transcription from RNA polymerase II promoter	cytoplasm|signalosome	protein binding|signal transducer activity			cervix(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|prostate(1)|skin(2)	18		all_lung(180;0.0428)		all cancers(107;1.34e-07)|GBM - Glioblastoma multiforme(94;3.02e-05)		CTCCATGTCAGACATCTTGGC	0.557													39	40					0	0	1	0	0	C	49447771	G	C	49447771	3	2	121	1	0	0	0	0	1	0	0	0	3756	942	33	4	1399	4	COPS2	15	49447771	Missense_Mutation	SNP	G	TCGA-DU-8158-01A-11D-2253-08		49447771	53083621	34	21116											
PDE8A	5151	broad.mit.edu	37	15	85610300	85610300	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chr15:85610300G>A	ENST00000310298.4	+	4	551	c.299G>A	c.(298-300)tGt>tAt	p.C100Y	PDE8A_ENST00000557957.1_Missense_Mutation_p.C28Y|PDE8A_ENST00000557819.2_3'UTR|PDE8A_ENST00000339708.5_Missense_Mutation_p.C100Y|PDE8A_ENST00000394553.1_Missense_Mutation_p.C100Y			O60658	PDE8A_HUMAN	phosphodiesterase 8A	100					cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	25	Colorectal(223;0.227)		BRCA - Breast invasive adenocarcinoma(143;0.0608)			TGCAGGGCATGTGAAAAAGCA	0.383													38	31					0	0	1	0	0	A	85610300	G	A	85610300	3	1	121	1	0	0	0	0	1	0	0	0	11700	1377	48	2	309	2	PDE8A	15	85610300	Missense_Mutation	SNP	G	TCGA-DU-8158-01A-11D-2253-08	36162529	85610300	16921092	35	21117											
DHX38	9785	broad.mit.edu	37	16	72132924	72132924	+	Missense_Mutation	SNP	C	C	T	rs148934675		TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chr16:72132924C>T	ENST00000268482.3	+	6	1372	c.863C>T	c.(862-864)cCg>cTg	p.P288L	DHX38_ENST00000536867.1_Intron	NM_014003.3	NP_054722.2	Q92620	PRP16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 38	288					mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|nucleoplasm	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			endometrium(5)|kidney(1)|large_intestine(16)|lung(15)|pancreas(1)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	48		Ovarian(137;0.125)				GGGTCCACCCCGCGTCTGTCC	0.617													16	29					0	0	1	0	0	T	72132924	C	T	72132924	3	4	121	1	0	0	0	0	1	0	0	0	4539	652	23	1	881	1	DHX38	16	72132924	Missense_Mutation	SNP	C	TCGA-DU-8158-01A-11D-2253-08		72132924	18221829	36	21118											
ZFHX3	463	broad.mit.edu	37	16	72993684	72993684	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chr16:72993684C>A	ENST00000268489.5	-	2	1033	c.361G>T	c.(361-363)Gac>Tac	p.D121Y	ZFHX3_ENST00000397992.5_Intron	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	121					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				CTCTCCTCGTCCCCCTCCTCA	0.687													18	93					7.41877e-09	8.29897e-09	1	1	0	A	72993684	C	A	72993684	3	1	121	1	0	0	0	0	1	0	0	0	17692	855	30	5	10786	5	ZFHX3	16	72993684	Missense_Mutation	SNP	C	TCGA-DU-8158-01A-11D-2253-08	860760	72993684	17361069	37	21119											
PLCG2	5336	broad.mit.edu	37	16	81953235	81953235	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chr16:81953235C>A	ENST00000359376.3	+	20	2415	c.2201C>A	c.(2200-2202)cCc>cAc	p.P734H		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	734	SH2 2.				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						CTGCGCTACCCCGTGACCCCC	0.517													23	57					6.38683e-12	7.26777e-12	1	1	0	A	81953235	C	A	81953235	3	1	121	1	0	0	0	0	1	0	0	0	12084	623	22	5	2275	5	PLCG2	16	81953235	Missense_Mutation	SNP	C	TCGA-DU-8158-01A-11D-2253-08	8959551	81953235	8401518	38	21120											
FLOT2	2319	broad.mit.edu	37	17	27207756	27207756	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chr17:27207756G>A	ENST00000394906.2	-	12	1465	c.1388C>T	c.(1387-1389)gCc>gTc	p.A463V	FLOT2_ENST00000585169.1_Missense_Mutation_p.A408V|FLOT2_ENST00000577789.1_5'UTR|FLOT2_ENST00000394908.4_Missense_Mutation_p.A408V			Q14254	FLOT2_HUMAN	flotillin 2	408					cell adhesion|epidermis development	cell surface|endocytic vesicle|endosome|membrane fraction				endometrium(3)|lung(6)|prostate(1)|urinary_tract(1)	11	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		Epithelial(11;3.26e-06)|all cancers(11;1.76e-05)|BRCA - Breast invasive adenocarcinoma(11;0.00015)|OV - Ovarian serous cystadenocarcinoma(11;0.0602)			GCCTGTGAGGGCATGCACAGA	0.597													5	138					0	0	1	0	0	A	27207756	G	A	27207756	3	1	121	1	0	0	0	0	1	0	0	0	5970	1203	42	2	71	2	FLOT2	17	27207756	Missense_Mutation	SNP	G	TCGA-DU-8158-01A-11D-2253-08		27207756	53987454	39	21121											
KIF19	124602	broad.mit.edu	37	17	72343952	72343952	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chr17:72343952G>A	ENST00000389916.4	+	9	1099	c.961G>A	c.(961-963)Gct>Act	p.A321T		NM_153209.3	NP_694941.2	Q2TAC6	KIF19_HUMAN	kinesin family member 19	321					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						AGTGATGATCGCTCACATCAG	0.627													3	8					0	0	1	0	0	A	72343952	G	A	72343952	3	1	121	1	0	0	0	0	1	0	0	0	8324	1087	38	1	995	1	KIF19	17	72343952	Missense_Mutation	SNP	G	TCGA-DU-8158-01A-11D-2253-08	45136196	72343952	8851258	40	21122											
ZNF557	79230	broad.mit.edu	37	19	7083553	7083553	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chr19:7083553C>G	ENST00000414706.1	+	8	1564	c.1091C>G	c.(1090-1092)aCa>aGa	p.T364R	ZNF557_ENST00000439035.2_Missense_Mutation_p.T357R|ZNF557_ENST00000252840.6_Missense_Mutation_p.T364R	NM_001044387.1|NM_001044388.1|NM_024341.2	NP_001037852.1|NP_001037853.1|NP_077317.2	Q8N988	ZN557_HUMAN	zinc finger protein 557	357					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(6)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17				Lung(535;0.179)		TTTTCTCTTACAATTCACAGG	0.383													4	47					0	0	1	0	0	G	7083553	C	G	7083553	3	3	121	1	0	0	0	0	1	0	0	0	18045	478	17	5	1113	5	ZNF557	19	7083553	Missense_Mutation	SNP	C	TCGA-DU-8158-01A-11D-2253-08		7083553	52045430	41	21123											
HSPA13	6782	broad.mit.edu	37	21	15748040	15748040	+	Silent	SNP	G	G	A			TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chr21:15748040G>A	ENST00000285667.3	-	4	748	c.681C>T	c.(679-681)ggC>ggT	p.G227G	HSPA13_ENST00000544452.1_Silent_p.G19G	NM_006948.4	NP_008879.3	P48723	HSP13_HUMAN	heat shock protein 70kDa family, member 13	227						endoplasmic reticulum|microsome	ATP binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13						GAGTTCCTCCGCCCAAGTCTA	0.483													32	97					0	0	1	0	0	A	15748040	G	A	15748040	2	1	121	1	0	0	0	0	0	0	0	1	7449	1074	38	1		1	HSPA13	21	15748040	Silent	SNP	G	TCGA-DU-8158-01A-11D-2253-08		15748040	32381855	42	21124											
BACH1	571	broad.mit.edu	37	21	30699512	30699513	+	Frame_Shift_Del	DEL	TA	TA	-	rs145991657		TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chr21:30699512_30699513delTA	ENST00000399921.1	+	3	1610_1611	c.1367_1368delTA	c.(1366-1368)ttafs	p.L456fs	BACH1_ENST00000286800.3_Frame_Shift_Del_p.L456fs	NM_206866.1	NP_996749.1	O14867	BACH1_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 1	456						nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|urinary_tract(2)	27						TTCACAACATTAAGTTCTGTCA	0.436													29	53	---	---	---	---						-	30699513	TA	-	30699512	7	5	121	1	0	1	0	1	0	0	0	0	1281	1764	61	0	1373	0	BACH1	21	30699512	Frame_Shift_Del	DEL	TA	TCGA-DU-8158-01A-11D-2253-08	14951472	30699512	17430383	43	21125											
BCR	613	broad.mit.edu	37	22	23631729	23631729	+	Silent	SNP	C	C	G			TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chr22:23631729C>G	ENST00000305877.8	+	13	3379	c.2628C>G	c.(2626-2628)tcC>tcG	p.S876S	BCR_ENST00000359540.3_Silent_p.S876S	NM_004327.3	NP_004318.3	P11274	BCR_HUMAN	breakpoint cluster region	876	C2.				regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	ATP binding|GTPase activator activity|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity		BCR/JAK2(6)	central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	35						CCCTGACATCCGTGGAGCTGC	0.572			T	"ABL1,  FGFR1, JAK2 "	"CML, ALL, AML"								19	26					0	0	1	0	0	G	23631729	C	G	23631729	2	3	121	1	0	0	0	0	0	0	0	1	1386	639	23	5		5	BCR	22	23631729	Silent	SNP	C	TCGA-DU-8158-01A-11D-2253-08		23631729	27672837	44	21126											
APOO	79135	broad.mit.edu	37	X	23899066	23899066	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chrX:23899066T>A	ENST00000379226.4	-	2	244	c.13A>T	c.(13-15)Att>Ttt	p.I5F	APOO_ENST00000379220.3_Missense_Mutation_p.I5F	NM_024122.4	NP_077027.1	Q9BUR5	APOO_HUMAN	apolipoprotein O	5					lipid transport	high-density lipoprotein particle|integral to membrane|low-density lipoprotein particle|very-low-density lipoprotein particle				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(5)|prostate(1)	9						GACCTCTGAATTACCTGAAAT	0.478													29	37					0	0	1	0	0	A	23899066	T	A	23899066	3	1	121	1	0	0	0	0	1	0	0	0	810	1493	52	4	611	4	APOO	23	23899066	Missense_Mutation	SNP	T	TCGA-DU-8158-01A-11D-2253-08		23899066	131371494	45	21127											
ZXDB	158586	broad.mit.edu	37	X	57620231	57620231	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chrX:57620231G>A	ENST00000374888.1	+	1	1963	c.1750G>A	c.(1750-1752)Gca>Aca	p.A584T		NM_007157.3	NP_009088.1	P98169	ZXDB_HUMAN	zinc finger, X-linked, duplicated B	584	Required for transcriptional activation (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(2)|skin(6)	27						TCAGCTAGAAGCAGCAAATTC	0.463													10	192					0	0	1	0	0	A	57620231	G	A	57620231	3	1	121	1	0	0	0	0	1	0	0	0	18291	971	34	2	1752	2	ZXDB	23	57620231	Missense_Mutation	SNP	G	TCGA-DU-8158-01A-11D-2253-08	33721165	57620231	97650329	46	21128											
LUZP4	51213	broad.mit.edu	37	X	114541268	114541268	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chrX:114541268G>A	ENST00000371920.3	+	4	848	c.841G>A	c.(841-843)Gtg>Atg	p.V281M	LUZP4_ENST00000451986.2_Missense_Mutation_p.V199M	NM_016383.3	NP_057467.1	Q9P127	LUZP4_HUMAN	leucine zipper protein 4	281						nucleus				endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	14						GAGAGATCTCGTGGCCACTGA	0.428													21	105					0	0	1	0	0	A	114541268	G	A	114541268	3	1	121	1	0	0	0	0	1	0	0	0	9133	1145	40	1	855	1	LUZP4	23	114541268	Missense_Mutation	SNP	G	TCGA-DU-8158-01A-11D-2253-08	56921037	114541268	40729292	47	21129											
DCAF12L1	139170	broad.mit.edu	37	X	125686452	125686452	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chrX:125686452G>A	ENST00000371126.1	-	1	382	c.140C>T	c.(139-141)aCg>aTg	p.T47M		NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	47								p.T47M(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						CGAGCGATACGTCGCCGGCCG	0.721													21	51					0	0	1	0	0	A	125686452	G	A	125686452	3	1	121	1	0	0	0	0	1	0	0	0	4288	1145	40	1	1255	1	DCAF12L1	23	125686452	Missense_Mutation	SNP	G	TCGA-DU-8158-01A-11D-2253-08	11145184	125686452	29584108	48	21130											
DDX26B	203522	broad.mit.edu	37	X	134711345	134711345	+	Silent	SNP	A	A	G			TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chrX:134711345A>G	ENST00000370752.4	+	14	2335	c.2001A>G	c.(1999-2001)gtA>gtG	p.V667V	DDX26B_ENST00000481908.1_Intron	NM_182540.4	NP_872346.3	Q5JSJ4	DX26B_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26B	667										large_intestine(1)|lung(8)	9	Acute lymphoblastic leukemia(192;6.56e-05)					CCACCCTTGTACATACAGGTA	0.443													3	80					0	0	1	0	0	G	134711345	A	G	134711345	2	3	121	1	0	0	0	0	0	0	0	1	4376	378	14	3		3	DDX26B	23	134711345	Silent	SNP	A	TCGA-DU-8158-01A-11D-2253-08	9024893	134711345	20559215	49	21131											
AADACL4	343066	broad.mit.edu	37	1	12726320	12726320	+	Silent	SNP	C	C	A			TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chr1:12726320C>A	ENST00000376221.1	+	4	798	c.798C>A	c.(796-798)gcC>gcA	p.A266A		NM_001013630.1	NP_001013652.1	Q5VUY2	ADCL4_HUMAN	arylacetamide deacetylase-like 4	266						integral to membrane	carboxylesterase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)	17	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384)		GGCGTGACGCCATCTTGAACG	0.502													4	150					0.00909568	0.00909568	1	1	0	A	12726320	C	A	12726320	2	1	122	1	0	0	0	0	0	0	0	1	13	581	21	5		5	AADACL4	1	12726320	Silent	SNP	C	TCGA-DU-8161-01A-11D-2253-08		12726320	236524301	1	21132											
PRAMEF12	390999	broad.mit.edu	37	1	12837725	12837725	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chr1:12837725C>T	ENST00000357726.4	+	3	1462	c.1435C>T	c.(1435-1437)Cag>Tag	p.Q479*		NM_001080830.1	NP_001074299.1	O95522	PRA12_HUMAN	PRAME family member 12	479										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1)	23	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TGCCTGCTGTCAGGGTGGATT	0.507													21	51					0	0	1	0	0	T	12837725	C	T	12837725	4	4	122	1	0	0	0	0	0	1	0	0	12476	827	29	2	1445	2	PRAMEF12	1	12837725	Nonsense_Mutation	SNP	C	TCGA-DU-8161-01A-11D-2253-08	111405	12837725	236412896	2	21133											
CLCNKB	1188	broad.mit.edu	37	1	16372121	16372121	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chr1:16372121G>A	ENST00000375679.4	+	3	280	c.169G>A	c.(169-171)Ggg>Agg	p.G57R		NM_000085.4	NP_000076.2			chloride channel, voltage-sensitive Kb											breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	21		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)		GATGACCCTCGGGGTGCTCAT	0.637													17	75					0	0	1	0	0	A	16372121	G	A	16372121	3	1	122	1	0	0	0	0	1	0	0	0	3493	1116	39	1	175	1	CLCNKB	1	16372121	Missense_Mutation	SNP	G	TCGA-DU-8161-01A-11D-2253-08	3534396	16372121	232878500	3	21134											
ATP1A2	477	broad.mit.edu	37	1	160093068	160093069	+	Frame_Shift_Ins	INS	-	-	C			TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chr1:160093068_160093069insC	ENST00000361216.3	+	4	332_333	c.243_244insC	c.(244-246)cccfs	p.P82fs	ATP1A2_ENST00000392233.3_Frame_Shift_Ins_p.P82fs	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	82	Interaction with phosphoinositide-3 kinase (By similarity).				ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			TCACACCACCTCCCACAACCCC	0.629													60	238	---	---	---	---						C	160093069	-	C	160093068	7	5	122	1	0	1	1	0	0	0	0	0	1128	1538	54	0	257	0	ATP1A2	1	160093068	Frame_Shift_Ins	INS	-	TCGA-DU-8161-01A-11D-2253-08	143720947	160093068	89157553	4	21135											
ITLN1	55600	broad.mit.edu	37	1	160849160	160849160	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chr1:160849160C>T	ENST00000326245.3	-	7	845	c.730G>A	c.(730-732)Gag>Aag	p.E244K	ITLN1_ENST00000487531.1_5'UTR	NM_017625.2	NP_060095.2	Q8WWA0	ITLN1_HUMAN	intelectin 1 (galactofuranose binding)	244	Fibrinogen C-terminal.				positive regulation of glucose import|positive regulation of protein phosphorylation|response to nematode|signal transduction	anchored to membrane|brush border membrane|extracellular region|membrane raft	receptor binding|sugar binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	21	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			GCTGCTCTCTCGTTATTAAAT	0.488													27	86					0	0	1	0	0	T	160849160	C	T	160849160	3	4	122	1	0	0	0	0	1	0	0	0	7954	893	31	1	219	1	ITLN1	1	160849160	Missense_Mutation	SNP	C	TCGA-DU-8161-01A-11D-2253-08	756092	160849160	88401461	5	21136											
ASTN1	460	broad.mit.edu	37	1	176838145	176838145	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chr1:176838145T>C	ENST00000367654.3	-	22	3717	c.3506A>G	c.(3505-3507)tAc>tGc	p.Y1169C	ASTN1_ENST00000367657.3_Missense_Mutation_p.Y1161C|ASTN1_ENST00000361833.2_Missense_Mutation_p.Y1161C|ASTN1_ENST00000424564.2_Missense_Mutation_p.Y1161C	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1						cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						GAAGAGATTGTAGATCTTGTC	0.403													24	70					0	0	1	0	0	C	176838145	T	C	176838145	3	2	122	1	0	0	0	0	1	0	0	0	1063	1638	57	3	414	3	ASTN1	1	176838145	Missense_Mutation	SNP	T	TCGA-DU-8161-01A-11D-2253-08	15988985	176838145	72412476	6	21137											
PTPRC	5788	broad.mit.edu	37	1	198703516	198703516	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chr1:198703516G>C	ENST00000367376.2	+	22	2404	c.2233G>C	c.(2233-2235)Gtt>Ctt	p.V745L	PTPRC_ENST00000348564.6_Missense_Mutation_p.V586L|PTPRC_ENST00000594404.1_Missense_Mutation_p.V584L|PTPRC_ENST00000442510.2_Missense_Mutation_p.V747L|PTPRC_ENST00000352140.3_Missense_Mutation_p.V697L	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	745	Tyrosine-protein phosphatase 1.				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						GAAAGCCACAGTTATTGTCAT	0.408													91	299					0	0	1	0	0	C	198703516	G	C	198703516	3	2	122	1	0	0	0	0	1	0	0	0	12849	1029	36	4	2326	4	PTPRC	1	198703516	Missense_Mutation	SNP	G	TCGA-DU-8161-01A-11D-2253-08	21865371	198703516	50547105	7	21138											
IL20	50604	broad.mit.edu	37	1	207039239	207039239	+	Silent	SNP	G	G	A			TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chr1:207039239G>A	ENST00000367098.1	+	2	405	c.42G>A	c.(40-42)gcG>gcA	p.A14A	IL20_ENST00000391930.2_Silent_p.A14A|IL20_ENST00000367096.3_Silent_p.A14A			Q9NYY1	IL20_HUMAN	interleukin 20	14					positive regulation of keratinocyte differentiation|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of inflammatory response	extracellular space	cytokine activity|interleukin-20 receptor binding			endometrium(2)|large_intestine(3)|lung(2)|pancreas(1)|urinary_tract(1)	9	Breast(84;0.201)			OV - Ovarian serous cystadenocarcinoma(81;0.00459)		TCTCTGCTGCGTTTTATCTCC	0.458													17	59					0	0	1	0	0	A	207039239	G	A	207039239	2	1	122	1	0	0	0	0	0	0	0	1	7711	1132	40	1		1	IL20	1	207039239	Silent	SNP	G	TCGA-DU-8161-01A-11D-2253-08	8335723	207039239	42211382	8	21139											
ENAH	55740	broad.mit.edu	37	1	225706962	225706962	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chr1:225706962C>T	ENST00000366844.3	-	5	1191	c.740G>A	c.(739-741)cGa>cAa	p.R247Q	ENAH_ENST00000391874.2_5'UTR|ENAH_ENST00000366843.2_Missense_Mutation_p.R247Q|ENAH_ENST00000284563.6_Missense_Mutation_p.R266Q	NM_001008493.1|NM_018212.4	NP_001008493.1|NP_060682.2	Q8N8S7	ENAH_HUMAN	enabled homolog (Drosophila)						axon guidance|intracellular transport|T cell receptor signaling pathway	cytosol|filopodium|focal adhesion|lamellipodium|synapse	actin binding|SH3 domain binding|WW domain binding			NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23	Breast(184;0.206)			GBM - Glioblastoma multiforme(131;0.19)		CTGCTCTTGTCGCTCCCTTTC	0.517													107	261					0	0	1	0	0	T	225706962	C	T	225706962	3	4	122	1	0	0	0	0	1	0	0	0	5139	884	31	1	1079	1	ENAH	1	225706962	Missense_Mutation	SNP	C	TCGA-DU-8161-01A-11D-2253-08	18667723	225706962	23543659	9	21140											
SLC35F3	148641	broad.mit.edu	37	1	234454541	234454541	+	Silent	SNP	C	C	T			TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chr1:234454541C>T	ENST00000366618.3	+	6	1144	c.999C>T	c.(997-999)gcC>gcT	p.A333A	SLC35F3_ENST00000366617.3_Silent_p.A264A	NM_173508.2	NP_775779.1	Q8IY50	S35F3_HUMAN	solute carrier family 35, member F3	264					transport	integral to membrane				breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|urinary_tract(1)	32	Ovarian(103;0.0454)	all_cancers(173;0.145)|Prostate(94;0.0885)	OV - Ovarian serous cystadenocarcinoma(106;0.00531)			TTGGAGAAGCCGCCTTATTTT	0.468													5	112					0	0	1	0	0	T	234454541	C	T	234454541	2	4	122	1	0	0	0	0	0	0	0	1	14645	639	23	1		1	SLC35F3	1	234454541	Silent	SNP	C	TCGA-DU-8161-01A-11D-2253-08	8747579	234454541	14796080	10	21141											
XPO1	7514	broad.mit.edu	37	2	61719740	61719740	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chr2:61719740C>T	ENST00000401558.2	-	14	2255	c.1528G>A	c.(1528-1530)Gaa>Aaa	p.E510K	XPO1_ENST00000406957.1_Missense_Mutation_p.E510K|XPO1_ENST00000404992.2_Missense_Mutation_p.E510K	NM_003400.3	NP_003391.1	O14980	XPO1_HUMAN	exportin 1 (CRM1 homolog, yeast)	510	Necessary for HTLV-1 Rex-mediated mRNA export.				intracellular protein transport|mitotic prometaphase|mRNA metabolic process|mRNA transport|viral genome transport in host cell|viral infectious cycle	annulate lamellae|Cajal body|cytosol|kinetochore|nuclear envelope|nucleolus|ribonucleoprotein complex	protein binding|protein transporter activity|RNA binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39			LUSC - Lung squamous cell carcinoma(7;5.71e-05)|Epithelial(17;0.0662)|all cancers(80;0.226)			TCGTCCTCTTCATGCATTGCT	0.348			Mis		CLL								3	57					0	0	1	0	0	T	61719740	C	T	61719740	3	4	122	1	0	0	0	0	1	0	0	0	17505	835	29	2	1735	2	XPO1	2	61719740	Missense_Mutation	SNP	C	TCGA-DU-8161-01A-11D-2253-08		61719740	181479633	11	21142											
ADD2	119	broad.mit.edu	37	2	70904917	70904917	+	Silent	SNP	G	G	C			TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chr2:70904917G>C	ENST00000264436.4	-	12	1920	c.1476C>G	c.(1474-1476)ccC>ccG	p.P492P	ADD2_ENST00000413157.2_Silent_p.P492P|ADD2_ENST00000407644.2_Silent_p.P492P|ADD2_ENST00000355733.3_Silent_p.P492P|ADD2_ENST00000430656.1_Silent_p.P508P	NM_001617.3	NP_001608.1	P35612	ADDB_HUMAN	adducin 2 (beta)						actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding	cytoplasm|F-actin capping protein complex|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding			autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						GTACTTCCTGGGGGTCAGTAT	0.522													15	55					0	0	1	0	0	C	70904917	G	C	70904917	2	2	122	1	0	0	0	0	0	0	0	1	304	1246	43	5		5	ADD2	2	70904917	Silent	SNP	G	TCGA-DU-8161-01A-11D-2253-08	9185177	70904917	172294456	12	21143											
KIF5C	3800	broad.mit.edu	37	2	149864511	149864511	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chr2:149864511G>A	ENST00000435030.1	+	23	2848	c.2480G>A	c.(2479-2481)aGt>aAt	p.S827N	KIF5C_ENST00000397413.1_Missense_Mutation_p.S595N|KIF5C_ENST00000464066.1_3'UTR|KIF5C_ENST00000414838.2_Missense_Mutation_p.S732N			O60282	KIF5C_HUMAN	kinesin family member 5C	827					microtubule-based movement|organelle organization	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(221;0.108)		GGAGGGGGCAGTGCTGCCCAG	0.557													3	84					0	0	1	0	0	A	149864511	G	A	149864511	3	1	122	1	0	0	0	0	1	0	0	0	8349	1029	36	2	2492	2	KIF5C	2	149864511	Missense_Mutation	SNP	G	TCGA-DU-8161-01A-11D-2253-08	78959594	149864511	93334862	13	21144											
SCN1A	6323	broad.mit.edu	37	2	166892601	166892601	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chr2:166892601G>A	ENST00000423058.2	-	16	3403	c.3386C>T	c.(3385-3387)aCg>aTg	p.T1129M	SCN1A_ENST00000303395.4_Missense_Mutation_p.T1129M|AC010127.3_ENST00000595268.1_RNA|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000375405.3_Missense_Mutation_p.T1118M|AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000597623.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.T1101M	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1129						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	AAAGTCTTCCGTGTTTAAATT	0.343													39	140					0	0	1	0	0	A	166892601	G	A	166892601	3	1	122	1	0	0	0	0	1	0	0	0	13968	1145	40	1	2687	1	SCN1A	2	166892601	Missense_Mutation	SNP	G	TCGA-DU-8161-01A-11D-2253-08	17028090	166892601	76306772	14	21145											
HJURP	55355	broad.mit.edu	37	2	234750028	234750028	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chr2:234750028C>G	ENST00000411486.2	-	8	1463	c.1398G>C	c.(1396-1398)atG>atC	p.M466I	HJURP_ENST00000432087.1_Missense_Mutation_p.M412I|HJURP_ENST00000441687.1_Missense_Mutation_p.M381I	NM_018410.3	NP_060880.3	Q8NCD3	HJURP_HUMAN	Holliday junction recognition protein	466					cell cycle|CenH3-containing nucleosome assembly at centromere|centromeric core chromatin assembly|chromosome segregation|regulation of DNA binding|regulation of protein complex assembly	condensed chromosome kinetochore|cytoplasm|nucleolus|nucleoplasm	DNA binding|histone binding			NS(2)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Breast(86;0.00204)|all_lung(227;0.00433)|Renal(207;0.00685)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0719)|Lung SC(224;0.128)		Epithelial(121;2.01e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000186)|Lung(119;0.00521)|LUSC - Lung squamous cell carcinoma(224;0.00829)		CCCCTCTGTACATGTTCATGG	0.532													40	71					0	0	1	0	0	G	234750028	C	G	234750028	3	3	122	1	0	0	0	0	1	0	0	0	7230	478	17	5	856	5	HJURP	2	234750028	Missense_Mutation	SNP	C	TCGA-DU-8161-01A-11D-2253-08	67857427	234750028	8449345	15	21146											
FGD5	152273	broad.mit.edu	37	3	14939167	14939167	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chr3:14939167T>C	ENST00000285046.5	+	5	3010	c.2900T>C	c.(2899-2901)cTg>cCg	p.L967P	FGD5_ENST00000543601.1_Missense_Mutation_p.L726P|FGD5_ENST00000476851.1_3'UTR	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	967	DH.				actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						GAGGAAAGGCTGTCAAATTGG	0.547													5	14					0	0	1	0	0	C	14939167	T	C	14939167	3	2	122	1	0	0	0	0	1	0	0	0	5869	1580	55	3	2918	3	FGD5	3	14939167	Missense_Mutation	SNP	T	TCGA-DU-8161-01A-11D-2253-08		14939167	183083263	16	21147											
POU1F1	5449	broad.mit.edu	37	3	87322565	87322565	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chr3:87322565G>T	ENST00000350375.2	-	2	270	c.146C>A	c.(145-147)aCa>aAa	p.T49K	POU1F1_ENST00000344265.3_Missense_Mutation_p.T75K|POU1F1_ENST00000560656.1_Missense_Mutation_p.T49K	NM_000306.2	NP_000297.1	P28069	PIT1_HUMAN	POU class 1 homeobox 1	49					negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(2)	18	all_cancers(8;0.104)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00229)|Lung(72;0.00677)		ATGAAGTCCTGTTGCTGTGTT	0.383													12	57					4.14922e-12	4.37051e-12	1	1	0	T	87322565	G	T	87322565	3	4	122	1	0	0	0	0	1	0	0	0	12315	1377	48	5	749	5	POU1F1	3	87322565	Missense_Mutation	SNP	G	TCGA-DU-8161-01A-11D-2253-08	72383398	87322565	110699865	17	21148											
SEC61A1	29927	broad.mit.edu	37	3	127786902	127786902	+	Splice_Site	SNP	G	G	A			TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chr3:127786902G>A	ENST00000243253.3	+	11	1428	c.1244G>A	c.(1243-1245)cGg>cAg	p.R415Q	SEC61A1_ENST00000424880.2_Splice_Site_p.R295Q|SEC61A1_ENST00000464451.1_Splice_Site_p.R421Q|SEC61A1_ENST00000483956.1_3'UTR|RUVBL1_ENST00000464873.1_Intron	NM_013336.3	NP_037468.1	P61619	S61A1_HUMAN	Sec61 alpha 1 subunit (S. cerevisiae)	415					protein targeting to ER	integral to endoplasmic reticulum membrane	P-P-bond-hydrolysis-driven protein transmembrane transporter activity|protein binding|ribosome binding	p.R415Q(1)		central_nervous_system(1)|kidney(1)|large_intestine(5)|liver(1)|lung(8)|ovary(1)|prostate(4)	21						GAACTCAACCGGTGAGTGGTG	0.577											OREG0015775	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	77					0	0	1	0	0	A	127786902	G	A	127786902	5	1	122	1	0	0	0	0	0	0	1	0	14054	1130	39	1	1286	1	SEC61A1	3	127786902	Splice_Site	SNP	G	TCGA-DU-8161-01A-11D-2253-08	40464337	127786902	70235528	18	21149											
TLR1	7096	broad.mit.edu	37	4	38798156	38798156	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chr4:38798156C>T	ENST00000308979.2	-	4	2570	c.2297G>A	c.(2296-2298)gGc>gAc	p.G766D	TLR1_ENST00000502213.2_Missense_Mutation_p.G766D	NM_003263.3	NP_003254.2	Q15399	TLR1_HUMAN	toll-like receptor 1	766	TIR.				cellular response to triacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|inflammatory response|innate immune response|macrophage activation|positive regulation of interleukin-6 biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	integral to plasma membrane|phagocytic vesicle membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex	protein heterodimerization activity|transmembrane receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(2)	28						CCAAAAAAGGCCACGTTTGCT	0.423													13	30					0	0	1	0	0	T	38798156	C	T	38798156	3	4	122	1	0	0	0	0	1	0	0	0	16009	739	26	2	67	2	TLR1	4	38798156	Missense_Mutation	SNP	C	TCGA-DU-8161-01A-11D-2253-08		38798156	152356120	19	21150											
TEC	7006	broad.mit.edu	37	4	48173432	48173432	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chr4:48173432G>C	ENST00000381501.3	-	4	435	c.278C>G	c.(277-279)gCa>gGa	p.A93G		NM_003215.2	NP_003206.2	P42680	TEC_HUMAN	tec protein tyrosine kinase	93	PH.				intracellular protein kinase cascade	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31						TGGACTAGGTGCAAAAATGTA	0.353													18	67					0	0	1	0	0	C	48173432	G	C	48173432	3	2	122	1	0	0	0	0	1	0	0	0	15801	1319	46	5	1677	5	TEC	4	48173432	Missense_Mutation	SNP	G	TCGA-DU-8161-01A-11D-2253-08	9375276	48173432	142980844	20	21151											
FLT4	2324	broad.mit.edu	37	5	180047927	180047927	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chr5:180047927C>T	ENST00000261937.6	-	15	2326	c.2248G>A	c.(2248-2250)Gtg>Atg	p.V750M	FLT4_ENST00000393347.3_Missense_Mutation_p.V750M|FLT4_ENST00000502649.1_Missense_Mutation_p.V750M	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	750	Ig-like C2-type 7.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	GCGTTGCACACGCTGCACAGA	0.657													4	18					0	0	1	0	0	T	180047927	C	T	180047927	3	4	122	1	0	0	0	0	1	0	0	0	5977	536	19	1	1915	1	FLT4	5	180047927	Missense_Mutation	SNP	C	TCGA-DU-8161-01A-11D-2253-08		180047927	867333	21	21152											
DAGLB	221955	broad.mit.edu	37	7	6472559	6472559	+	Missense_Mutation	SNP	G	G	A	rs148006210	byFrequency	TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chr7:6472559G>A	ENST00000297056.6	-	5	879	c.710C>T	c.(709-711)gCg>gTg	p.A237V	DAGLB_ENST00000428902.2_Missense_Mutation_p.A110V|DAGLB_ENST00000436575.1_Missense_Mutation_p.A196V|DAGLB_ENST00000425398.2_Missense_Mutation_p.R151W|DAGLB_ENST00000421761.2_Missense_Mutation_p.R24W	NM_139179.3	NP_631918.3	Q8NCG7	DGLB_HUMAN	diacylglycerol lipase, beta	237					lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|urinary_tract(2)	26		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.102)		GGCGAGGCCCGCCGCAATGTC	0.602													3	54					0	0	1	0	0	A	6472559	G	A	6472559	3	1	122	1	0	0	0	0	1	0	0	0	4251	1087	38	1	1352	1	DAGLB	7	6472559	Missense_Mutation	SNP	G	TCGA-DU-8161-01A-11D-2253-08		6472559	152666104	22	21153											
IKZF1	10320	broad.mit.edu	37	7	50459521	50459521	+	Silent	SNP	C	C	T			TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chr7:50459521C>T	ENST00000331340.3	+	7	965	c.810C>T	c.(808-810)aaC>aaT	p.N270N	IKZF1_ENST00000349824.4_Intron|IKZF1_ENST00000440768.2_3'UTR|IKZF1_ENST00000438033.1_Silent_p.N183N|IKZF1_ENST00000359197.5_Silent_p.N228N|IKZF1_ENST00000357364.4_Intron|IKZF1_ENST00000346667.4_Intron|IKZF1_ENST00000439701.1_Silent_p.N228N|IKZF1_ENST00000343574.5_Silent_p.N183N	NM_001220769.1|NM_001220772.1|NM_001220773.1|NM_001220775.1|NM_006060.4	NP_001207698.1|NP_001207701.1|NP_001207702.1|NP_001207704.1|NP_006051.1	Q13422	IKZF1_HUMAN	IKAROS family zinc finger 1 (Ikaros)	270					cell cycle|chromatin modification|mesoderm development	cytoplasm|nucleus	zinc ion binding	p.?(131)		haematopoietic_and_lymphoid_tissue(275)|lung(1)	276	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)				TAGCAAGTAACGTCGCCAAAC	0.393			"D,T"	BCL6	"ALL, DLBCL"								8	32					0	0	1	0	0	T	50459521	C	T	50459521	2	4	122	1	0	0	0	0	0	0	0	1	7658	535	19	1		1	IKZF1	7	50459521	Silent	SNP	C	TCGA-DU-8161-01A-11D-2253-08	43986962	50459521	108679142	23	21154											
PCLO	27445	broad.mit.edu	37	7	82583644	82583644	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chr7:82583644C>A	ENST00000333891.9	-	5	6962	c.6625G>T	c.(6625-6627)Gtt>Ttt	p.V2209F	PCLO_ENST00000423517.2_Missense_Mutation_p.V2209F	NM_033026.5	NP_149015.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein						cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TCTGTATAAACTGTGGTTATG	0.413													11	49					7.03913e-09	7.22196e-09	1	1	0	A	82583644	C	A	82583644	3	1	122	1	0	0	0	0	1	0	0	0	11630	565	20	4	8904	4	PCLO	7	82583644	Missense_Mutation	SNP	C	TCGA-DU-8161-01A-11D-2253-08	32124123	82583644	76555019	24	21155											
GAL3ST4	79690	broad.mit.edu	37	7	99758242	99758242	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chr7:99758242T>C	ENST00000360039.4	-	4	1162	c.770A>G	c.(769-771)aAt>aGt	p.N257S	GAL3ST4_ENST00000426974.2_Missense_Mutation_p.N195S|GAL3ST4_ENST00000411994.1_Missense_Mutation_p.M156V|GAL3ST4_ENST00000413800.1_Missense_Mutation_p.N257S|GAL3ST4_ENST00000423751.1_Missense_Mutation_p.M156V	NM_024637.4	NP_078913.3	Q96RP7	G3ST4_HUMAN	galactose-3-O-sulfotransferase 4	257					cell-cell signaling|oligosaccharide metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi cisterna membrane|integral to membrane|membrane fraction	3'-phosphoadenosine 5'-phosphosulfate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(5)|prostate(1)|upper_aerodigestive_tract(1)	26	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GATGAGGGCATTGGGATTGAG	0.557													5	314					0	0	1	0	0	C	99758242	T	C	99758242	3	2	122	1	0	0	0	0	1	0	0	0	6240	1493	52	3	694	3	GAL3ST4	7	99758242	Missense_Mutation	SNP	T	TCGA-DU-8161-01A-11D-2253-08	17174598	99758242	59380421	25	21156											
GPR22	2845	broad.mit.edu	37	7	107114948	107114948	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chr7:107114948C>A	ENST00000304402.4	+	3	1786	c.443C>A	c.(442-444)gCa>gAa	p.A148E	COG5_ENST00000393603.2_Intron|COG5_ENST00000347053.3_Intron|COG5_ENST00000475638.2_Intron|COG5_ENST00000297135.3_Intron	NM_005295.2	NP_005286.2	Q99680	GPR22_HUMAN	G protein-coupled receptor 22	148						integral to plasma membrane	G-protein coupled receptor activity			large_intestine(3)|lung(6)|ovary(2)|stomach(1)	12						GTAAAACCTGCAAACCGAATT	0.358													32	107					5.04308e-16	5.38383e-16	1	1	0	A	107114948	C	A	107114948	3	1	122	1	0	0	0	0	1	0	0	0	6722	710	25	5	445	5	GPR22	7	107114948	Missense_Mutation	SNP	C	TCGA-DU-8161-01A-11D-2253-08	7356706	107114948	52023715	26	21157											
EZH2	2146	broad.mit.edu	37	7	148512600	148512600	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chr7:148512600T>C	ENST00000320356.2	-	13	1665	c.1544A>G	c.(1543-1545)aAg>aGg	p.K515R	EZH2_ENST00000483967.1_Missense_Mutation_p.K501R|EZH2_ENST00000476773.1_Missense_Mutation_p.K501R|EZH2_ENST00000541220.1_Missense_Mutation_p.K501R|EZH2_ENST00000350995.2_Missense_Mutation_p.K471R|EZH2_ENST00000478654.1_Missense_Mutation_p.K501R|EZH2_ENST00000460911.1_Missense_Mutation_p.K510R	NM_001203247.1|NM_001203248.1|NM_004456.4	NP_001190176.1|NP_001190177.1|NP_004447.2	Q15910	EZH2_HUMAN	enhancer of zeste homolog 2 (Drosophila)	510					negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	DNA binding|histone-lysine N-methyltransferase activity|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(313)|kidney(3)|large_intestine(8)|liver(1)|lung(23)|parathyroid(2)|skin(3)|upper_aerodigestive_tract(3)	359	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00239)			ATGCTAACCCTTTTTCAGCTG	0.368			Mis		DLBCL								4	159					0	0	1	0	0	C	148512600	T	C	148512600	3	2	122	1	0	0	0	0	1	0	0	0	5362	1609	56	3	743	3	EZH2	7	148512600	Missense_Mutation	SNP	T	TCGA-DU-8161-01A-11D-2253-08	41397652	148512600	10626063	27	21158											
HTR5A	3361	broad.mit.edu	37	7	154863096	154863096	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chr7:154863096G>C	ENST00000287907.2	+	1	1063	c.487G>C	c.(487-489)Gcg>Ccg	p.A163P	HTR5A-AS1_ENST00000543018.1_5'UTR|HTR5A-AS1_ENST00000493904.1_5'UTR|HTR5A-AS1_ENST00000395731.2_5'UTR	NM_024012.3	NP_076917.1	P47898	5HT5A_HUMAN	5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled	163						integral to plasma membrane	serotonin receptor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)		CGTCATGATCGCGCTCACCTG	0.627													19	79					0	0	1	0	0	C	154863096	G	C	154863096	3	2	122	1	0	0	0	0	1	0	0	0	7494	1087	38	5	489	5	HTR5A	7	154863096	Missense_Mutation	SNP	G	TCGA-DU-8161-01A-11D-2253-08	6350496	154863096	4275567	28	21159											
NAT2	10	broad.mit.edu	37	8	18257611	18257611	+	Missense_Mutation	SNP	G	G	A	rs138592670		TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chr8:18257611G>A	ENST00000286479.3	+	2	205	c.98G>A	c.(97-99)cGg>cAg	p.R33Q	NAT2_ENST00000520116.1_Intron	NM_000015.2	NP_000006.2	P11245	ARY2_HUMAN	N-acetyltransferase 2 (arylamine N-acetyltransferase)	33					xenobiotic metabolic process	cytosol	arylamine N-acetyltransferase activity			kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(2)	12				Colorectal(111;0.0531)|COAD - Colon adenocarcinoma(73;0.21)		CACCAGATCCGGGCTGTTCCC	0.423									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of				42	139					0	0	1	0	0	A	18257611	G	A	18257611	3	1	122	1	0	0	0	0	1	0	0	0	10225	1116	39	1	100	1	NAT2	8	18257611	Missense_Mutation	SNP	G	TCGA-DU-8161-01A-11D-2253-08		18257611	128106411	29	21160											
GLT6D1	360203	broad.mit.edu	37	9	138530972	138530972	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chr9:138530972C>T	ENST00000371763.1	-	2	315	c.62G>A	c.(61-63)cGt>cAt	p.R21H		NM_182974.2	NP_892019.2	Q7Z4J2	GL6D1_HUMAN	glycosyltransferase 6 domain containing 1	21					carbohydrate metabolic process	integral to membrane	transferase activity, transferring hexosyl groups			endometrium(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	15		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;4.3e-07)|Epithelial(140;1.58e-06)|all cancers(34;5.36e-05)		CCTGAAATAACGCTCAACCAA	0.264													6	49					0	0	1	0	0	T	138530972	C	T	138530972	3	4	122	1	0	0	0	0	1	0	0	0	6510	536	19	1	784	1	GLT6D1	9	138530972	Missense_Mutation	SNP	C	TCGA-DU-8161-01A-11D-2253-08		138530972	2682459	30	21161											
KIAA1462	57608	broad.mit.edu	37	10	30315252	30315252	+	Silent	SNP	G	G	A			TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chr10:30315252G>A	ENST00000375377.1	-	3	3926	c.3825C>T	c.(3823-3825)agC>agT	p.S1275S		NM_020848.2	NP_065899.1	Q9P266	K1462_HUMAN	KIAA1462	1275										breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						CATTCCTGAAGCTCAGGACTC	0.612													15	28					0	0	1	0	0	A	30315252	G	A	30315252	2	1	122	1	0	0	0	0	0	0	0	1	8276	962	34	2		2	KIAA1462	10	30315252	Silent	SNP	G	TCGA-DU-8161-01A-11D-2253-08		30315252	105219495	31	21162											
CYP2C19	1557	broad.mit.edu	37	10	96535209	96535209	+	Missense_Mutation	SNP	C	C	T	rs149590953		TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chr10:96535209C>T	ENST00000371321.3	+	3	476	c.394C>T	c.(394-396)Cgg>Tgg	p.R132W	CYP2C19_ENST00000464755.1_3'UTR	NM_000769.1	NP_000760	P33261	CP2CJ_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 19	132			R -> Q (in allele CYP2C19*6; loss of activity).		exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)	CATGACGCTGCGGAATTTTGG	0.507													40	57					0	0	1	0	0	T	96535209	C	T	96535209	3	4	122	1	0	0	0	0	1	0	0	0	4189	759	27	1	404	1	CYP2C19	10	96535209	Missense_Mutation	SNP	C	TCGA-DU-8161-01A-11D-2253-08	66219957	96535209	38999538	32	21163											
CYP2C8	1558	broad.mit.edu	37	10	96818194	96818194	+	Silent	SNP	A	A	G			TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chr10:96818194A>G	ENST00000371270.3	-	5	811	c.717T>C	c.(715-717)ctT>ctC	p.L239L	CYP2C8_ENST00000535898.1_Silent_p.L137L|CYP2C8_ENST00000539050.1_Silent_p.L153L	NM_000770.3|NM_001198853.1|NM_001198855.1	NP_000761.3|NP_001185782.1|NP_001185784.1	P10632	CP2C8_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 8	239					exogenous drug catabolic process|organic acid metabolic process|oxidative demethylation|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|electron carrier activity|heme binding|oxygen binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|skin(3)	21		Colorectal(252;0.0397)		all cancers(201;6.21e-05)	Aminophenazone(DB01424)|Amiodarone(DB01118)|Amodiaquine(DB00613)|Benzphetamine(DB00865)|Carbamazepine(DB00564)|Cerivastatin(DB00439)|Diclofenac(DB00586)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lovastatin(DB00227)|Midazolam(DB00683)|Montelukast(DB00471)|Nicardipine(DB00622)|Paclitaxel(DB01229)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rifampin(DB01045)|Rosiglitazone(DB00412)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Tolbutamide(DB01124)|Torasemide(DB00214)|Tretinoin(DB00755)|Trimethoprim(DB00440)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zopiclone(DB01198)	AACTTCGTGTAAGAGCAACAT	0.363													11	17					0	0	1	0	0	G	96818194	A	G	96818194	2	3	122	1	0	0	0	0	0	0	0	1	4190	349	13	3		3	CYP2C8	10	96818194	Silent	SNP	A	TCGA-DU-8161-01A-11D-2253-08	282985	96818194	38716553	33	21164											
ANO9	338440	broad.mit.edu	37	11	429619	429619	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chr11:429619C>T	ENST00000332826.6	-	11	950	c.866G>A	c.(865-867)cGc>cAc	p.R289H		NM_001012302.2	NP_001012302	A1A5B4	ANO9_HUMAN	anoctamin 9	289						chloride channel complex	chloride channel activity			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|lung(5)|ovary(1)|prostate(4)|skin(4)	21						CACGCGGGCGCGCTGCCGCTT	0.687													14	48					0	0	1	0	0	T	429619	C	T	429619	3	4	122	1	0	0	0	0	1	0	0	0	698	768	27	1	1534	1	ANO9	11	429619	Missense_Mutation	SNP	C	TCGA-DU-8161-01A-11D-2253-08		429619	134576897	34	21165											
ZNF195	7748	broad.mit.edu	37	11	3380678	3380678	+	Silent	SNP	C	C	T			TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chr11:3380678C>T	ENST00000354599.6	-	4	1448	c.1344G>A	c.(1342-1344)aaG>aaA	p.K448K	ZNF195_ENST00000343338.7_Silent_p.K452K|ZNF195_ENST00000528796.1_Intron|ZNF195_ENST00000399602.4_Silent_p.K520K|ZNF195_ENST00000005082.9_Silent_p.K497K|ZNF195_ENST00000526601.1_Silent_p.K501K|ZNF195_ENST00000429541.2_Silent_p.K452K	NM_001242843.1|NM_001256825.1|NM_007152.4	NP_001229772.1|NP_001243754.1|NP_009083.2	O14628	ZN195_HUMAN	zinc finger protein 195	520					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)	17		Medulloblastoma(188;0.00106)|Breast(177;0.00328)|all_neural(188;0.00681)|Ovarian(85;0.00965)		BRCA - Breast invasive adenocarcinoma(625;0.0361)|LUSC - Lung squamous cell carcinoma(625;0.2)		ATTTGTAGGGCTTCTCTCCAG	0.403													4	173					0	0	1	0	0	T	3380678	C	T	3380678	2	4	122	1	0	0	0	0	0	0	0	1	17816	796	28	2		2	ZNF195	11	3380678	Silent	SNP	C	TCGA-DU-8161-01A-11D-2253-08	2951059	3380678	131625838	35	21166											
UBQLN3	50613	broad.mit.edu	37	11	5530632	5530632	+	Missense_Mutation	SNP	G	G	A	rs143866662		TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chr11:5530632G>A	ENST00000311659.4	-	2	304	c.157C>T	c.(157-159)Cgc>Tgc	p.R53C	HBG2_ENST00000380259.2_Intron	NM_017481.2	NP_059509.1	Q9H347	UBQL3_HUMAN	ubiquilin 3	53	Ubiquitin-like.									NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCCTTAAAGCGCTGAGATATC	0.507													50	135					0	0	1	0	0	A	5530632	G	A	5530632	3	1	122	1	0	0	0	0	1	0	0	0	16959	1087	38	1	1814	1	UBQLN3	11	5530632	Missense_Mutation	SNP	G	TCGA-DU-8161-01A-11D-2253-08	2149954	5530632	129475884	36	21167											
OR52N2	390077	broad.mit.edu	37	11	5841699	5841699	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chr11:5841699G>C	ENST00000317037.2	+	1	156	c.134G>C	c.(133-135)tGt>tCt	p.C45S	TRIM5_ENST00000380027.1_Intron	NM_001005174.1	NP_001005174.1	Q8NGI0	O52N2_HUMAN	olfactory receptor, family 52, subfamily N, member 2	45					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|urinary_tract(1)	32		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.49e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GTGGGGAACTGTGGGCTCATC	0.547													20	61					0	0	1	0	0	C	5841699	G	C	5841699	3	2	122	1	0	0	0	0	1	0	0	0	11176	1377	48	5	136	5	OR52N2	11	5841699	Missense_Mutation	SNP	G	TCGA-DU-8161-01A-11D-2253-08	311067	5841699	129164817	37	21168											
OR52E4	390081	broad.mit.edu	37	11	5906225	5906225	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chr11:5906225C>T	ENST00000316987.2	+	1	725	c.703C>T	c.(703-705)Cga>Tga	p.R235*		NM_001005165.1	NP_001005165.1	Q8NGH9	O52E4_HUMAN	olfactory receptor, family 52, subfamily E, member 4	235					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(2)|prostate(1)|skin(2)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCAAGATGTCCGACTAAAGGC	0.398													51	121					0	0	1	0	0	T	5906225	C	T	5906225	4	4	122	1	0	0	0	0	0	1	0	0	11164	644	23	1	705	1	OR52E4	11	5906225	Nonsense_Mutation	SNP	C	TCGA-DU-8161-01A-11D-2253-08	64526	5906225	129100291	38	21169											
TSG101	7251	broad.mit.edu	37	11	18505466	18505466	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chr11:18505466T>C	ENST00000536719.1	-	8	928	c.794A>G	c.(793-795)aAg>aGg	p.K265R	TSG101_ENST00000357193.3_Missense_Mutation_p.K160R|TSG101_ENST00000251968.3_Missense_Mutation_p.K265R			Q99816	TS101_HUMAN	tumor susceptibility 101	265					cell division|cellular membrane organization|endosome transport|interspecies interaction between organisms|non-lytic virus budding|protein transport|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway	early endosome|late endosome membrane|multivesicular body|nucleolus|plasma membrane	calcium-dependent protein binding|DNA binding|transcription corepressor activity|ubiquitin binding|ubiquitin protein ligase binding			kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	22						CTGGTGACCCTTTTTCAGGTC	0.438													5	284					0	0	1	0	0	C	18505466	T	C	18505466	3	2	122	1	0	0	0	0	1	0	0	0	16677	1609	56	3	390	3	TSG101	11	18505466	Missense_Mutation	SNP	T	TCGA-DU-8161-01A-11D-2253-08	12599241	18505466	116501050	39	21170											
AVPR1A	552	broad.mit.edu	37	12	63543919	63543919	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chr12:63543919C>T	ENST00000299178.2	-	1	803	c.698G>A	c.(697-699)gGt>gAt	p.G233D		NM_000706.4	NP_000697.1	P37288	V1AR_HUMAN	arginine vasopressin receptor 1A	233					activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|generation of precursor metabolites and energy	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|prostate(2)|skin(1)	26			BRCA - Breast invasive adenocarcinoma(9;0.193)	GBM - Glioblastoma multiforme(28;0.0569)	Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Vasopressin(DB00067)	GTAGCAGGTACCCAAGATGAC	0.642													37	90					0	0	1	0	0	T	63543919	C	T	63543919	3	4	122	1	0	0	0	0	1	0	0	0	1229	507	18	2	566	2	AVPR1A	12	63543919	Missense_Mutation	SNP	C	TCGA-DU-8161-01A-11D-2253-08		63543919	70307976	40	21171											
PAH	5053	broad.mit.edu	37	12	103249024	103249025	+	Frame_Shift_Ins	INS	-	-	C	rs63749676		TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chr12:103249024_103249025insC	ENST00000553106.1	-	6	1067_1068	c.595_596insG	c.(595-597)aaafs	p.K199fs	PAH_ENST00000307000.2_Frame_Shift_Ins_p.K194fs	NM_000277.1	NP_000268.1	P00439	PH4H_HUMAN	phenylalanine hydroxylase	199					catecholamine biosynthetic process|L-phenylalanine catabolic process|neurotransmitter biosynthetic process	cytosol	phenylalanine 4-monooxygenase activity			endometrium(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(5)|skin(2)|urinary_tract(1)	27					Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Levodopa(DB01235)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360)	AGCATGGGTTTTATACAAGGAC	0.446													8	65	---	---	---	---						C	103249025	-	C	103249024	7	5	122	1	0	1	1	0	0	0	0	0	11441	1841	64	0	794	0	PAH	12	103249024	Frame_Shift_Ins	INS	-	TCGA-DU-8161-01A-11D-2253-08	39705105	103249024	30602871	41	21172											
FLVCR2	55640	broad.mit.edu	37	14	76101273	76101273	+	Silent	SNP	A	A	G			TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chr14:76101273A>G	ENST00000238667.4	+	5	1397	c.1041A>G	c.(1039-1041)ggA>ggG	p.G347G	FLVCR2_ENST00000556241.1_3'UTR|FLVCR2_ENST00000555027.1_Silent_p.G62G|FLVCR2_ENST00000539311.1_Silent_p.G142G|FLVCR2_ENST00000553587.1_Silent_p.G95G|FLVCR2_ENST00000556856.1_Intron	NM_017791.2	NP_060261.2	Q9UPI3	FLVC2_HUMAN	feline leukemia virus subgroup C cellular receptor family, member 2	347					transmembrane transport	integral to membrane|plasma membrane	heme binding|heme transporter activity	p.G347G(1)		endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	15				BRCA - Breast invasive adenocarcinoma(234;0.029)		TGAATGCTGGAAGAATTGGCC	0.527													3	27					0	0	1	0	0	G	76101273	A	G	76101273	2	3	122	1	0	0	0	0	0	0	0	1	5979	233	9	3		3	FLVCR2	14	76101273	Silent	SNP	A	TCGA-DU-8161-01A-11D-2253-08		76101273	31248267	42	21173											
PTPN21	11099	broad.mit.edu	37	14	89016587	89016587	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chr14:89016587G>A	ENST00000556564.1	-	2	459	c.175C>T	c.(175-177)Cgg>Tgg	p.R59W	PTPN21_ENST00000554628.1_5'UTR|PTPN21_ENST00000328736.3_Missense_Mutation_p.R59W	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type 21	59	FERM.					cytoplasm|cytoskeleton	binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						CTTACCTCCCGCAGCTCCAGC	0.607													3	81					0	0	1	0	0	A	89016587	G	A	89016587	3	1	122	1	0	0	0	0	1	0	0	0	12838	1086	38	1	3421	1	PTPN21	14	89016587	Missense_Mutation	SNP	G	TCGA-DU-8161-01A-11D-2253-08	12915314	89016587	18332953	43	21174											
CHRNB4	1143	broad.mit.edu	37	15	78921630	78921630	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chr15:78921630G>T	ENST00000261751.3	-	5	1128	c.1017C>A	c.(1015-1017)caC>caA	p.H339Q	CHRNB4_ENST00000412074.2_Intron	NM_000750.3	NP_000741.1	P30926	ACHB4_HUMAN	cholinergic receptor, nicotinic, beta 4 (neuronal)	339					regulation of neurotransmitter secretion|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			endometrium(7)|kidney(1)|lung(13)|prostate(1)	22						TAGGCAGCTTGTGCAGGAAGC	0.642													13	33					0.00010058	0.000101869	1	1	0	T	78921630	G	T	78921630	3	4	122	1	0	0	0	0	1	0	0	0	3415	1368	48	5	487	5	CHRNB4	15	78921630	Missense_Mutation	SNP	G	TCGA-DU-8161-01A-11D-2253-08		78921630	23609762	44	21175											
RASGRF1	5923	broad.mit.edu	37	15	79277481	79277481	+	Silent	SNP	G	G	A			TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chr15:79277481G>A	ENST00000419573.3	-	24	3604	c.3330C>T	c.(3328-3330)atC>atT	p.I1110I	RP11-16K12.1_ENST00000316148.4_RNA|RASGRF1_ENST00000394745.3_Silent_p.I326I|RASGRF1_ENST00000558480.2_Silent_p.I1094I|RASGRF1_ENST00000560334.1_5'UTR	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	1112	Ras-GEF.				activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						CCCACTTCTCGATGGCGCTCA	0.517													26	128					0	0	1	0	0	A	79277481	G	A	79277481	2	1	122	1	0	0	0	0	0	0	0	1	13124	1048	37	1		1	RASGRF1	15	79277481	Silent	SNP	G	TCGA-DU-8161-01A-11D-2253-08	355851	79277481	23253911	45	21176											
C17orf97	400566	broad.mit.edu	37	17	263306	263306	+	Silent	SNP	C	C	T	rs111797689		TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chr17:263306C>T	ENST00000360127.6	+	2	688	c.672C>T	c.(670-672)ggC>ggT	p.G224G	AC108004.3_ENST00000466740.2_RNA|C17orf97_ENST00000571106.1_Intron	NM_001013672.4	NP_001013694.4	Q6ZQX7	CQ097_HUMAN	chromosome 17 open reading frame 97	224	20 X 10 AA approximative tandem repeat of A-L-K-G-F-H-P-D-P-E.									breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)	14						CCCTCAAGGGCTTCCACCCCG	0.697													3	35					0	0	1	0	0	T	263306	C	T	263306	2	4	122	1	0	0	0	0	0	0	0	1	1903	784	28	2		2	C17orf97	17	263306	Silent	SNP	C	TCGA-DU-8161-01A-11D-2253-08		263306	80931904	46	21177											
ANKFY1	51479	broad.mit.edu	37	17	4088255	4088255	+	Silent	SNP	C	C	G			TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chr17:4088255C>G	ENST00000341657.4	-	12	1592	c.1557G>C	c.(1555-1557)ctG>ctC	p.L519L	ANKFY1_ENST00000574367.1_Silent_p.L519L|ANKFY1_ENST00000570535.1_Silent_p.L561L|ANKFY1_ENST00000573722.1_5'UTR|CYB5D2_ENST00000573984.1_Intron	NM_016376.3	NP_057460.3	Q9P2R3	ANFY1_HUMAN	ankyrin repeat and FYVE domain containing 1	519						endosome membrane	metal ion binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|liver(1)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						CCTCCGTCTGCAGGTTTGGGT	0.622													12	54					0	0	1	0	0	G	4088255	C	G	4088255	2	3	122	1	0	0	0	0	0	0	0	1	622	697	25	5		5	ANKFY1	17	4088255	Silent	SNP	C	TCGA-DU-8161-01A-11D-2253-08	3824949	4088255	77106955	47	21178											
KCNJ2	3759	broad.mit.edu	37	17	68171457	68171457	+	Missense_Mutation	SNP	G	G	A	rs147750704		TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chr17:68171457G>A	ENST00000243457.3	+	2	660	c.277G>A	c.(277-279)Gtc>Atc	p.V93I	KCNJ2_ENST00000535240.1_Missense_Mutation_p.V93I	NM_000891.2	NP_000882.1	P63252	IRK2_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 2	93					synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(13)|skin(1)|urinary_tract(1)	25	Breast(10;1.64e-08)					CCTGGCTTTCGTCCTGTCATG	0.537													36	116					0	0	1	0	0	A	68171457	G	A	68171457	3	1	122	1	0	0	0	0	1	0	0	0	8095	1145	40	1	279	1	KCNJ2	17	68171457	Missense_Mutation	SNP	G	TCGA-DU-8161-01A-11D-2253-08	64083202	68171457	13023753	48	21179											
ALPK2	115701	broad.mit.edu	37	18	56246388	56246388	+	Silent	SNP	C	C	T			TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chr18:56246388C>T	ENST00000361673.3	-	4	1833	c.1620G>A	c.(1618-1620)ccG>ccA	p.P540P	ALPK2_ENST00000587399.1_5'UTR	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	540							ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						CCTTCATTCCCGGCTGCCTCA	0.542											OREG0025011	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	57	180					0	0	1	0	0	T	56246388	C	T	56246388	2	4	122	1	0	0	0	0	0	0	0	1	541	639	23	1		1	ALPK2	18	56246388	Silent	SNP	C	TCGA-DU-8161-01A-11D-2253-08		56246388	21830860	49	21180											
AES	166	broad.mit.edu	37	19	3061202	3061202	+	Silent	SNP	G	G	A			TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chr19:3061202G>A	ENST00000221561.8	-	2	461	c.282C>T	c.(280-282)gaC>gaT	p.D94D	AES_ENST00000327141.4_Silent_p.D27D|AES_ENST00000592330.1_5'UTR|AES_ENST00000586839.1_5'UTR	NM_198969.1	NP_945320.1	Q08117	AES_HUMAN	amino-terminal enhancer of split	27	Gln-rich (Q domain).				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of response to cytokine stimulus|negative regulation of transcription from RNA polymerase II promoter|organ morphogenesis|response to interleukin-1|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding|transcription corepressor activity			lung(8)	8		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)		CTTTGATGCGGTCGCAGGAGT	0.627													4	202					0	0	1	0	0	A	3061202	G	A	3061202	2	1	122	1	0	0	0	0	0	0	0	1	351	1252	44	2		2	AES	19	3061202	Silent	SNP	G	TCGA-DU-8161-01A-11D-2253-08		3061202	56067781	50	21181											
FBN3	84467	broad.mit.edu	37	19	8136967	8136967	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chr19:8136967C>A	ENST00000600128.1	-	63	8467	c.8053G>T	c.(8053-8055)Gac>Tac	p.D2685Y	FBN3_ENST00000601739.1_Missense_Mutation_p.D2685Y|FBN3_ENST00000270509.2_Missense_Mutation_p.D2685Y			Q75N90	FBN3_HUMAN	fibrillin 3	2685						proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						CGTGGCCGGTCCCGAGGGGAG	0.642													29	100					4.4194e-11	4.59385e-11	1	1	0	A	8136967	C	A	8136967	3	1	122	1	0	0	0	0	1	0	0	0	5737	855	30	5	384	5	FBN3	19	8136967	Missense_Mutation	SNP	C	TCGA-DU-8161-01A-11D-2253-08	5075765	8136967	50992016	51	21182											
ZNF546	339327	broad.mit.edu	37	19	40521374	40521374	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chr19:40521374C>T	ENST00000347077.4	+	7	2413	c.2197C>T	c.(2197-2199)Cgg>Tgg	p.R733W	ZNF546_ENST00000596894.1_Intron|ZNF546_ENST00000600094.1_Missense_Mutation_p.R707W	NM_178544.3	NP_848639.2	Q86UE3	ZN546_HUMAN	zinc finger protein 546	733					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(15)|lung(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	34	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					CTTTAGTCGTCGGTATCATCT	0.378													4	101					0	0	1	0	0	T	40521374	C	T	40521374	3	4	122	1	0	0	0	0	1	0	0	0	18035	875	31	1	2215	1	ZNF546	19	40521374	Missense_Mutation	SNP	C	TCGA-DU-8161-01A-11D-2253-08	32384407	40521374	18607609	52	21183											
IGFL2	147920	broad.mit.edu	37	19	46664038	46664038	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chr19:46664038C>G	ENST00000434646.2	+	4	565	c.274C>G	c.(274-276)Ctt>Gtt	p.L92V	AC007193.6_ENST00000597989.1_lincRNA|IGFL2_ENST00000377693.4_Missense_Mutation_p.L81V|IGFL2_ENST00000600243.1_3'UTR	NM_001002915.2	NP_001002915.2	Q6UWQ7	IGFL2_HUMAN	IGF-like family member 2	81						extracellular region	protein binding			cervix(1)|lung(5)	6		Ovarian(192;0.0908)|all_neural(266;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(486;0.031)|Epithelial(262;0.247)		GCTCTGCTGTCTTGATTCCTT	0.527													71	242					0	0	1	0	0	G	46664038	C	G	46664038	3	3	122	1	0	0	0	0	1	0	0	0	7631	913	32	4	307	4	IGFL2	19	46664038	Missense_Mutation	SNP	C	TCGA-DU-8161-01A-11D-2253-08	6142664	46664038	12464945	53	21184											
HAS1	3036	broad.mit.edu	37	19	52220447	52220447	+	Splice_Site	SNP	C	C	T			TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chr19:52220447C>T	ENST00000540069.2	-	3	760		c.e3-1		HAS1_ENST00000222115.1_Splice_Site|HAS1_ENST00000601714.1_Splice_Site|HAS1_ENST00000594621.1_Splice_Site			Q92839	HAS1_HUMAN	hyaluronan synthase 1						cell adhesion	integral to plasma membrane	hyaluronan synthase activity|protein binding			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	40		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00102)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		AGTCACAGACCTGTAAGGTGG	0.622													10	40					0	0	1	0	0	T	52220447	C	T	52220447	5	4	122	1	0	0	0	0	0	0	1	0	7002	695	24	2	1046	2	HAS1	19	52220447	Splice_Site	SNP	C	TCGA-DU-8161-01A-11D-2253-08	5556409	52220447	6908536	54	21185											
LILRA3	11026	broad.mit.edu	37	19	54802564	54802564	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chr19:54802564C>T	ENST00000391745.1	-	9	1244	c.928G>A	c.(928-930)Ggc>Agc	p.G310S	LILRA3_ENST00000391744.3_Missense_Mutation_p.G229S|LILRA3_ENST00000251390.3_Missense_Mutation_p.G293S					leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3											NS(3)|breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GTGTACTGGCCCCCGTAGGAG	0.682													28	64					0	0	1	0	0	T	54802564	C	T	54802564	3	4	122	1	0	0	0	0	1	0	0	0	8826	623	22	2	454	2	LILRA3	19	54802564	Missense_Mutation	SNP	C	TCGA-DU-8161-01A-11D-2253-08	2582117	54802564	4326419	55	21186											
TM9SF4	9777	broad.mit.edu	37	20	30723918	30723918	+	Silent	SNP	A	A	G			TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chr20:30723918A>G	ENST00000217315.5	+	3	460	c.120A>G	c.(118-120)gaA>gaG	p.E40E	TM9SF4_ENST00000398022.2_Silent_p.E57E			Q92544	TM9S4_HUMAN	transmembrane 9 superfamily protein member 4	57						integral to membrane				central_nervous_system(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			TACCTTATGAATACTATTCAC	0.512													21	78					0	0	1	0	0	G	30723918	A	G	30723918	2	3	122	1	0	0	0	0	0	0	0	1	16040	98	4	3		3	TM9SF4	20	30723918	Silent	SNP	A	TCGA-DU-8161-01A-11D-2253-08		30723918	32301602	56	21187											
PLCG1	5335	broad.mit.edu	37	20	39795452	39795452	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chr20:39795452C>G	ENST00000373272.2	+	19	2659	c.2254C>G	c.(2254-2256)Ctg>Gtg	p.L752V	PLCG1_ENST00000373271.1_Missense_Mutation_p.L752V|PLCG1_ENST00000244007.3_Missense_Mutation_p.L752V	NM_002660.2	NP_002651.2	P19174	PLCG1_HUMAN	phospholipase C, gamma 1	752	SH2 2.				activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration|T cell receptor signaling pathway	cytosol|lamellipodium|plasma membrane|ruffle	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity			breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2)	46		Myeloproliferative disorder(115;0.00878)				CAAGATGAAGCTGCGCTATCC	0.572													3	129					0	0	1	0	0	G	39795452	C	G	39795452	3	3	122	1	0	0	0	0	1	0	0	0	12083	796	28	4	2328	4	PLCG1	20	39795452	Missense_Mutation	SNP	C	TCGA-DU-8161-01A-11D-2253-08	9071534	39795452	23230068	57	21188											
ERG	2078	broad.mit.edu	37	21	39755664	39755664	+	Silent	SNP	G	G	A	rs143039786		TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chr21:39755664G>A	ENST00000442448.1	-	11	1321	c.1050C>T	c.(1048-1050)cgC>cgT	p.R350R	ERG_ENST00000417133.2_Silent_p.R374R|ERG_ENST00000453032.2_Silent_p.R275R|ERG_ENST00000398911.1_Silent_p.R350R|ERG_ENST00000398897.1_Silent_p.R251R|ERG_ENST00000398907.1_Silent_p.R344R|ERG_ENST00000288319.7_Silent_p.R367R|ERG_ENST00000398910.1_Silent_p.R351R|ERG_ENST00000398905.1_Silent_p.R343R|ERG_ENST00000398919.2_Silent_p.R374R	NM_004449.4	NP_004440.1	P11308	ERG_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog	374					cell proliferation|multicellular organismal development|protein phosphorylation	cytoplasm|nucleus|ribonucleoprotein complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity		EWSR1/ERG(178)|NDRG1/ERG(5)|TMPRSS2/ERG(3582)|FUS/ERG(167)|SLC45A3/ERG(50)	lung(2)|ovary(1)|skin(1)	4		Prostate(19;3.6e-06)				AACGGAGGGCGCGGCTGAGCT	0.592			T	"EWSR1, TMPRSS2, ELF4, FUS, HERPUD1, NDRG1"	"Ewing sarcoma, prostate, AML"								30	80					0	0	1	0	0	A	39755664	G	A	39755664	2	1	122	1	0	0	0	0	0	0	0	1	5250	1074	38	1		1	ERG	21	39755664	Silent	SNP	G	TCGA-DU-8161-01A-11D-2253-08		39755664	8374231	58	21189											
FTSJ1	24140	broad.mit.edu	37	X	48337056	48337056	+	Silent	SNP	A	A	G			TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chrX:48337056A>G	ENST00000019019.2	+	5	672	c.243A>G	c.(241-243)ccA>ccG	p.P81P	FTSJ1_ENST00000396894.4_Intron|FTSJ1_ENST00000456787.1_Silent_p.P81P|FTSJ1_ENST00000348411.2_Silent_p.P81P	NM_177439.1	NP_803188.1	Q9UET6	RRMJ1_HUMAN	FtsJ RNA methyltransferase homolog 1 (E. coli)	81					RNA methylation|rRNA processing		methyltransferase activity|nucleic acid binding			breast(1)|central_nervous_system(1)|lung(4)|skin(1)	7						CTATGGCTCCACTACCAGGTG	0.617													5	22					0	0	1	0	0	G	48337056	A	G	48337056	2	3	122	1	0	0	0	0	0	0	0	1	6122	146	6	3		3	FTSJ1	23	48337056	Silent	SNP	A	TCGA-DU-8161-01A-11D-2253-08		48337056	106933504	59	21190											
LAS1L	81887	broad.mit.edu	37	X	64752492	64752492	+	Silent	SNP	T	T	C			TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chrX:64752492T>C	ENST00000374811.3	-	3	421	c.381A>G	c.(379-381)tcA>tcG	p.S127S	LAS1L_ENST00000374804.5_Silent_p.S85S|LAS1L_ENST00000374807.5_Silent_p.S127S|LAS1L_ENST00000312391.8_Silent_p.S127S	NM_031206.4	NP_112483.1	Q9Y4W2	LAS1L_HUMAN	LAS1-like (S. cerevisiae)	127						MLL1 complex|nucleolus	protein binding			breast(4)|endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	33						TCTTCCTCTCTGAGATAAGAT	0.463													22	57					0	0	1	0	0	C	64752492	T	C	64752492	2	2	122	1	0	0	0	0	0	0	0	1	8675	1567	55	3		3	LAS1L	23	64752492	Silent	SNP	T	TCGA-DU-8161-01A-11D-2253-08	16415436	64752492	90518068	60	21191											
MACF1	23499	broad.mit.edu	37	1	39900289	39900289	+	Silent	SNP	A	A	G			TCGA-DU-8162-01A-21D-2253-08	TCGA-DU-8162-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	337b4f73-2891-4f94-a24e-a6022bc871da	a92ca991-440e-4646-826f-2db2b4734fb2	g.chr1:39900289A>G	ENST00000564288.1	+	69	18546	c.17769A>G	c.(17767-17769)caA>caG	p.Q5923Q	MACF1_ENST00000539005.1_Silent_p.Q3731Q|MACF1_ENST00000317713.7_Silent_p.Q3861Q|MACF1_ENST00000372915.3_Silent_p.Q5819Q|MACF1_ENST00000289893.4_Silent_p.Q4363Q|MACF1_ENST00000567887.1_Silent_p.Q5960Q|MACF1_ENST00000361689.2_Silent_p.Q3861Q|MACF1_ENST00000545844.1_Silent_p.Q3861Q			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	5920					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TCAGGCAGCAACAAGAGGAAA	0.413													3	58					0	0	1	0	0	G	39900289	A	G	39900289	2	3	123	1	0	0	0	0	0	0	0	1	9190	40	2	3		3	MACF1	1	39900289	Silent	SNP	A	TCGA-DU-8162-01A-21D-2253-08		39900289	209350332	1	21192											
FLG	2312	broad.mit.edu	37	1	152280001	152280001	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-8162-01A-21D-2253-08	TCGA-DU-8162-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	337b4f73-2891-4f94-a24e-a6022bc871da	a92ca991-440e-4646-826f-2db2b4734fb2	g.chr1:152280001G>C	ENST00000368799.1	-	3	7396	c.7361C>G	c.(7360-7362)aCg>aGg	p.T2454R	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2454	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTCTTGGGACGTTGAGTGCCT	0.582									Ichthyosis				15	472					0	0	1	0	0	C	152280001	G	C	152280001	3	2	123	1	0	0	0	0	1	0	0	0	5955	1145	40	5	4828	5	FLG	1	152280001	Missense_Mutation	SNP	G	TCGA-DU-8162-01A-21D-2253-08	112379712	152280001	96970620	2	21193											
KPRP	448834	broad.mit.edu	37	1	152732631	152732631	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-8162-01A-21D-2253-08	TCGA-DU-8162-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	337b4f73-2891-4f94-a24e-a6022bc871da	a92ca991-440e-4646-826f-2db2b4734fb2	g.chr1:152732631C>A	ENST00000368773.1	+	2	625	c.567C>A	c.(565-567)agC>agA	p.S189R	KPRP_ENST00000606109.1_Missense_Mutation_p.S189R	NM_001025231.1	NP_001020402.1	Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	189	Gln-rich.					cytoplasm				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCTCCTATAGCAGTTGTGGCC	0.562													5	122					0.00116845	0.00126789	1	1	0	A	152732631	C	A	152732631	3	1	123	1	0	0	0	0	1	0	0	0	8479	709	25	5	569	5	KPRP	1	152732631	Missense_Mutation	SNP	C	TCGA-DU-8162-01A-21D-2253-08	452630	152732631	96517990	3	21194											
HMCN1	83872	broad.mit.edu	37	1	186055385	186055385	+	Silent	SNP	A	A	T			TCGA-DU-8162-01A-21D-2253-08	TCGA-DU-8162-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	337b4f73-2891-4f94-a24e-a6022bc871da	a92ca991-440e-4646-826f-2db2b4734fb2	g.chr1:186055385A>T	ENST00000271588.4	+	58	9121	c.8892A>T	c.(8890-8892)ccA>ccT	p.P2964P	HMCN1_ENST00000367492.2_Silent_p.P2964P	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	2964	Ig-like C2-type 28.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TAGTTCCTCCAAGTGTCATTG	0.368													8	47					0	0	1	0	0	T	186055385	A	T	186055385	2	4	123	1	0	0	0	0	0	0	0	1	7261	117	5	5		5	HMCN1	1	186055385	Silent	SNP	A	TCGA-DU-8162-01A-21D-2253-08	33322754	186055385	63195236	4	21195											
C4BPA	722	broad.mit.edu	37	1	207297690	207297690	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-8162-01A-21D-2253-08	TCGA-DU-8162-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	337b4f73-2891-4f94-a24e-a6022bc871da	a92ca991-440e-4646-826f-2db2b4734fb2	g.chr1:207297690C>A	ENST00000367070.3	+	6	879	c.685C>A	c.(685-687)Cca>Aca	p.P229T		NM_000715.3	NP_000706.1	P04003	C4BPA_HUMAN	complement component 4 binding protein, alpha	229	Sushi 3.				complement activation, classical pathway|innate immune response	extracellular region	protein binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(1)|urinary_tract(2)	28						TGTTTGGAGACCAAGCCCTCC	0.428													10	43					1.5842e-08	1.79543e-08	1	1	0	A	207297690	C	A	207297690	3	1	123	1	0	0	0	0	1	0	0	0	2264	507	18	5	703	5	C4BPA	1	207297690	Missense_Mutation	SNP	C	TCGA-DU-8162-01A-21D-2253-08	21242305	207297690	41952931	5	21196											
SNRNP200	23020	broad.mit.edu	37	2	96970469	96970469	+	Silent	SNP	C	C	T			TCGA-DU-8162-01A-21D-2253-08	TCGA-DU-8162-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	337b4f73-2891-4f94-a24e-a6022bc871da	a92ca991-440e-4646-826f-2db2b4734fb2	g.chr2:96970469C>T	ENST00000323853.5	-	2	260	c.183G>A	c.(181-183)ccG>ccA	p.P61P	SNRNP200_ENST00000349783.5_Silent_p.P61P	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	61						catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						CCTGCATCTGCGGTTTGGTCC	0.527													5	96					0	0	1	0	0	T	96970469	C	T	96970469	2	4	123	1	0	0	0	0	0	0	0	1	14906	755	27	1		1	SNRNP200	2	96970469	Silent	SNP	C	TCGA-DU-8162-01A-21D-2253-08		96970469	146228904	6	21197											
FARP2	9855	broad.mit.edu	37	2	242432832	242432832	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-8162-01A-21D-2253-08	TCGA-DU-8162-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	337b4f73-2891-4f94-a24e-a6022bc871da	a92ca991-440e-4646-826f-2db2b4734fb2	g.chr2:242432832G>A	ENST00000264042.3	+	26	3190	c.3020G>A	c.(3019-3021)cGg>cAg	p.R1007Q	STK25_ENST00000316586.4_3'UTR	NM_014808.2	NP_055623.1	O94887	FARP2_HUMAN	FERM, RhoGEF and pleckstrin domain protein 2	1007	PH 2.				axon guidance|neuron remodeling|Rac protein signal transduction|regulation of Rho protein signal transduction	cytoskeleton|cytosol|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity	p.R1007Q(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	43		all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121)		TACTTCTTCCGGGCTGAGAGC	0.527													5	49					0	0	1	0	0	A	242432832	G	A	242432832	3	1	123	1	0	0	0	0	1	0	0	0	5710	1116	39	1	3118	1	FARP2	2	242432832	Missense_Mutation	SNP	G	TCGA-DU-8162-01A-21D-2253-08	145462363	242432832	766541	7	21198											
C3orf30	152405	broad.mit.edu	37	3	118865808	118865808	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-8162-01A-21D-2253-08	TCGA-DU-8162-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	337b4f73-2891-4f94-a24e-a6022bc871da	a92ca991-440e-4646-826f-2db2b4734fb2	g.chr3:118865808A>G	ENST00000295622.1	+	1	812	c.772A>G	c.(772-774)Att>Gtt	p.I258V		NM_152539.2	NP_689752.2	Q96M34	CC030_HUMAN	chromosome 3 open reading frame 30	258										NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(20)|ovary(2)|prostate(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(114;0.222)		TTCCGTACAGATTGACCGCAG	0.502													5	62					0	0	1	0	0	G	118865808	A	G	118865808	3	3	123	1	0	0	0	0	1	0	0	0	2234	333	12	3	774	3	C3orf30	3	118865808	Missense_Mutation	SNP	A	TCGA-DU-8162-01A-21D-2253-08		118865808	79156622	8	21199											
PIGG	54872	broad.mit.edu	37	4	527753	527753	+	Silent	SNP	G	G	A			TCGA-DU-8162-01A-21D-2253-08	TCGA-DU-8162-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	337b4f73-2891-4f94-a24e-a6022bc871da	a92ca991-440e-4646-826f-2db2b4734fb2	g.chr4:527753G>A	ENST00000453061.2	+	12	2824	c.2718G>A	c.(2716-2718)ctG>ctA	p.L906L	PIGG_ENST00000310340.5_Silent_p.L898L|PIGG_ENST00000383028.4_Silent_p.L773L|PIGG_ENST00000504346.1_Silent_p.L817L|PIGG_ENST00000296306.7_3'UTR	NM_001127178.1	NP_001120650.1	Q5H8A4	PIGG_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class G	906					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	CP2 mannose-ethanolamine phosphotransferase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	39						TGCACTTCCTGAGCTCAGAAA	0.597													4	47					0	0	1	0	0	A	527753	G	A	527753	2	1	123	1	0	0	0	0	0	0	0	1	11936	1277	45	2		2	PIGG	4	527753	Silent	SNP	G	TCGA-DU-8162-01A-21D-2253-08		527753	190626523	9	21200											
RUFY3	22902	broad.mit.edu	37	4	71588247	71588247	+	Translation_Start_Site	SNP	T	T	A			TCGA-DU-8162-01A-21D-2253-08	TCGA-DU-8162-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	337b4f73-2891-4f94-a24e-a6022bc871da	a92ca991-440e-4646-826f-2db2b4734fb2	g.chr4:71588247T>A	ENST00000226328.4	+	0	520				RUFY3_ENST00000417478.2_Intron|RUFY3_ENST00000381006.3_De_novo_Start_OutOfFrame	NM_014961.3	NP_055776.1	Q7L099	RUFY3_HUMAN	RUN and FYVE domain containing 3						negative regulation of axonogenesis	filopodium|growth cone				endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)	16		all_hematologic(202;0.248)	Lung(101;0.235)			tgtgtgtgagtgtgtgtgtgt	0.478													4	35					0	0	1	0	0	A	71588247	T	A	71588247	1	1	123	1	0	0	0	0	0	0	0	0	13792	1711	59	5		5	RUFY3	4	71588247	Translation_Start_Site	SNP	T	TCGA-DU-8162-01A-21D-2253-08	71060494	71588247	119566029	10	21201											
ADH1A	124	broad.mit.edu	37	4	100208046	100208046	+	Missense_Mutation	SNP	C	C	T	rs141454408		TCGA-DU-8162-01A-21D-2253-08	TCGA-DU-8162-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	337b4f73-2891-4f94-a24e-a6022bc871da	a92ca991-440e-4646-826f-2db2b4734fb2	g.chr4:100208046C>T	ENST00000209668.2	-	3	333	c.220G>A	c.(220-222)Gtg>Atg	p.V74M	ADH1A_ENST00000511656.1_5'UTR|RP11-696N14.1_ENST00000500358.2_RNA	NM_000667.3	NP_000658.1	P07327	ADH1A_HUMAN	alcohol dehydrogenase 1A (class I), alpha polypeptide	74					ethanol oxidation|transcription, DNA-dependent|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|protein binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)	25				OV - Ovarian serous cystadenocarcinoma(123;9.56e-08)	Fomepizole(DB01213)|NADH(DB00157)	ACACTCTCCACGATGCCGGCT	0.507													18	200					0	0	1	0	0	T	100208046	C	T	100208046	3	4	123	1	0	0	0	0	1	0	0	0	306	536	19	1	935	1	ADH1A	4	100208046	Missense_Mutation	SNP	C	TCGA-DU-8162-01A-21D-2253-08	28619799	100208046	90946230	11	21202											
TAS2R1	50834	broad.mit.edu	37	5	9629469	9629469	+	Missense_Mutation	SNP	C	C	T	rs145804099		TCGA-DU-8162-01A-21D-2253-08	TCGA-DU-8162-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	337b4f73-2891-4f94-a24e-a6022bc871da	a92ca991-440e-4646-826f-2db2b4734fb2	g.chr5:9629469C>T	ENST00000382492.2	-	1	994	c.676G>A	c.(676-678)Gcg>Acg	p.A226T	CTD-2001E22.1_ENST00000504182.2_RNA	NM_019599.2	NP_062545.1	Q9NYW7	TA2R1_HUMAN	taste receptor, type 2, member 1	226					chemosensory behavior|sensory perception of taste	integral to membrane	taste receptor activity	p.A226S(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(19)|ovary(3)|prostate(1)|skin(1)|stomach(1)	39						GACAGCAACGCGCTGATGGGT	0.498													7	50					0	0	1	0	0	T	9629469	C	T	9629469	3	4	123	1	0	0	0	0	1	0	0	0	15622	768	27	1	227	1	TAS2R1	5	9629469	Missense_Mutation	SNP	C	TCGA-DU-8162-01A-21D-2253-08		9629469	171285791	12	21203											
NMUR2	56923	broad.mit.edu	37	5	151772005	151772005	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-8162-01A-21D-2253-08	TCGA-DU-8162-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	337b4f73-2891-4f94-a24e-a6022bc871da	a92ca991-440e-4646-826f-2db2b4734fb2	g.chr5:151772005C>T	ENST00000255262.3	-	4	1160	c.995G>A	c.(994-996)cGc>cAc	p.R332H		NM_020167.4	NP_064552.3	Q9GZQ4	NMUR2_HUMAN	neuromedin U receptor 2	332					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|arachidonic acid secretion|calcium ion transport|central nervous system development|elevation of cytosolic calcium ion concentration|regulation of smooth muscle contraction	integral to membrane|plasma membrane	GTP binding|intracellular calcium activated chloride channel activity|neuromedin U receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(12)|liver(1)|lung(15)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	44		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672)			CTGGAAGCGGCGAGACAGTAG	0.493													7	114					0	0	1	0	0	T	151772005	C	T	151772005	3	4	123	1	0	0	0	0	1	0	0	0	10554	768	27	1	256	1	NMUR2	5	151772005	Missense_Mutation	SNP	C	TCGA-DU-8162-01A-21D-2253-08	142142536	151772005	29143255	13	21204											
FOXQ1	94234	broad.mit.edu	37	6	1313285	1313285	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-8162-01A-21D-2253-08	TCGA-DU-8162-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	337b4f73-2891-4f94-a24e-a6022bc871da	a92ca991-440e-4646-826f-2db2b4734fb2	g.chr6:1313285C>T	ENST00000296839.2	+	1	611	c.346C>T	c.(346-348)Cgg>Tgg	p.R116W		NM_033260.3	NP_150285.3	Q9C009	FOXQ1_HUMAN	forkhead box Q1	116					DNA fragmentation involved in apoptotic nuclear change|embryo development|hair follicle morphogenesis|pattern specification process|positive regulation of caspase activity|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	caspase regulator activity|DNA bending activity|double-stranded DNA binding|estrogen receptor binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|ubiquitin conjugating enzyme binding			lung(1)|urinary_tract(1)	2	Ovarian(93;0.0733)	Breast(5;0.052)|all_lung(73;0.0713)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.0954)|BRCA - Breast invasive adenocarcinoma(62;0.18)		GCCATATACGCGGCGGCCCAA	0.746													7	38					0	0	1	0	0	T	1313285	C	T	1313285	3	4	123	1	0	0	0	0	1	0	0	0	6064	759	27	1	348	1	FOXQ1	6	1313285	Missense_Mutation	SNP	C	TCGA-DU-8162-01A-21D-2253-08		1313285	169801782	14	21205											
MRS2	57380	broad.mit.edu	37	6	24412567	24412567	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-8162-01A-21D-2253-08	TCGA-DU-8162-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	337b4f73-2891-4f94-a24e-a6022bc871da	a92ca991-440e-4646-826f-2db2b4734fb2	g.chr6:24412567G>A	ENST00000378386.3	+	5	625	c.532G>A	c.(532-534)Gtt>Att	p.V178I	MRS2_ENST00000443868.2_Missense_Mutation_p.V181I|MRS2_ENST00000535061.1_Missense_Mutation_p.V128I|MRS2_ENST00000378353.1_Missense_Mutation_p.V178I|MRS2_ENST00000543597.1_5'UTR|MRS2_ENST00000274747.7_3'UTR|MRS2_ENST00000483634.1_3'UTR	NM_020662.2	NP_065713.1	Q9HD23	MRS2_HUMAN	MRS2 magnesium transporter	178					ion transport	integral to membrane|mitochondrial inner membrane		p.V178I(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)|stomach(1)	12						GGGTCAACTCGTTACATACCC	0.388													7	83					0	0	1	0	0	A	24412567	G	A	24412567	3	1	123	1	0	0	0	0	1	0	0	0	9900	1145	40	1	550	1	MRS2	6	24412567	Missense_Mutation	SNP	G	TCGA-DU-8162-01A-21D-2253-08	23099282	24412567	146702500	15	21206											
SRF	6722	broad.mit.edu	37	6	43139485	43139487	+	In_Frame_Del	DEL	GGC	GGC	-			TCGA-DU-8162-01A-21D-2253-08	TCGA-DU-8162-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	337b4f73-2891-4f94-a24e-a6022bc871da	a92ca991-440e-4646-826f-2db2b4734fb2	g.chr6:43139485_43139487delGGC	ENST00000265354.4	+	1	449_451	c.91_93delGGC	c.(91-93)ggcdel	p.G35del		NM_003131.2	NP_003122.1	P11831	SRF_HUMAN	serum response factor (c-fos serum response element-binding transcription factor)	35	Gly-rich.				angiogenesis involved in wound healing|cell migration involved in sprouting angiogenesis|cellular senescence|heart looping|muscle cell homeostasis|neuron development|positive regulation of cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription via serum response element binding|regulation of smooth muscle cell differentiation|response to cytokine stimulus|response to hormone stimulus|response to toxin|transcription from RNA polymerase II promoter|trophectodermal cell differentiation	endoplasmic reticulum	protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|serum response element binding|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	12			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.011)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			ggggcggccgggcggcggcggcg	0.818													4	7	---	---	---	---						-	43139487	GGC	-	43139485	7	5	123	1	0	1	0	1	0	0	0	0	15199	1232	43	0	93	0	SRF	6	43139485	In_Frame_Del	DEL	GGC	TCGA-DU-8162-01A-21D-2253-08	18726918	43139485	127975582	16	21207											
SLC22A16	85413	broad.mit.edu	37	6	110778136	110778136	+	Silent	SNP	G	G	A			TCGA-DU-8162-01A-21D-2253-08	TCGA-DU-8162-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	337b4f73-2891-4f94-a24e-a6022bc871da	a92ca991-440e-4646-826f-2db2b4734fb2	g.chr6:110778136G>A	ENST00000368919.3	-	2	204	c.138C>T	c.(136-138)gtC>gtT	p.V46V	SLC22A16_ENST00000461487.1_5'UTR|SLC22A16_ENST00000330550.4_Silent_p.V44V|SLC22A16_ENST00000456137.2_Silent_p.V46V|SLC22A16_ENST00000439654.1_Silent_p.V46V	NM_033125.3	NP_149116.2	Q86VW1	S22AG_HUMAN	solute carrier family 22 (organic cation/carnitine transporter), member 16	46					acid secretion|cell differentiation|multicellular organismal development|single fertilization|sperm motility|spermatogenesis	integral to membrane	carnitine transporter activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34		all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101)		OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115)		GATGAGGGGTGACTCCCATGA	0.473													6	37					0	0	1	0	0	A	110778136	G	A	110778136	2	1	123	1	0	0	0	0	0	0	0	1	14502	1277	45	2		2	SLC22A16	6	110778136	Silent	SNP	G	TCGA-DU-8162-01A-21D-2253-08	67638651	110778136	60336931	17	21208											
HBS1L	10767	broad.mit.edu	37	6	135376554	135376554	+	RNA	DEL	C	C	-			TCGA-DU-8162-01A-21D-2253-08	TCGA-DU-8162-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	337b4f73-2891-4f94-a24e-a6022bc871da	a92ca991-440e-4646-826f-2db2b4734fb2	g.chr6:135376554delC	ENST00000447508.1	+	0	384																											gtgggaggatcccctgagccc	0.547													2	4	---	---	---	---						-	135376554	C	-	135376554	6	5	123	0	1	1	0	1	0	0	0	0	7028	870	30	0		0	HBS1L	6	135376554	RNA	DEL	C	TCGA-DU-8162-01A-21D-2253-08	24598418	135376554	35738513	18	21209											
EGFR	1956	broad.mit.edu	37	7	55233043	55233043	+	Missense_Mutation	SNP	G	G	T	rs139236063		TCGA-DU-8162-01A-21D-2253-08	TCGA-DU-8162-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	337b4f73-2891-4f94-a24e-a6022bc871da	a92ca991-440e-4646-826f-2db2b4734fb2	g.chr7:55233043G>T	ENST00000275493.2	+	15	1970	c.1793G>T	c.(1792-1794)gGa>gTa	p.G598V	EGFR_ENST00000454757.2_Missense_Mutation_p.G545V|EGFR_ENST00000455089.1_Missense_Mutation_p.G553V|EGFR_ENST00000344576.2_Missense_Mutation_p.G598V|EGFR_ENST00000442591.1_Missense_Mutation_p.G598V|EGFR_ENST00000342916.3_Missense_Mutation_p.G598V	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	598					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.G598V(15)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	TGCCCGGCAGGAGTCATGGGA	0.567		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			176	127					1.06226e-90	1.23126e-90	1	1	0	T	55233043	G	T	55233043	3	4	123	1	0	0	0	0	1	0	0	0	4993	1174	41	5	1862	5	EGFR	7	55233043	Missense_Mutation	SNP	G	TCGA-DU-8162-01A-21D-2253-08		55233043	103905620	19	21210											
FBXO24	26261	broad.mit.edu	37	7	100187922	100187922	+	Silent	SNP	G	G	A			TCGA-DU-8162-01A-21D-2253-08	TCGA-DU-8162-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	337b4f73-2891-4f94-a24e-a6022bc871da	a92ca991-440e-4646-826f-2db2b4734fb2	g.chr7:100187922G>A	ENST00000241071.6	+	3	586	c.264G>A	c.(262-264)ccG>ccA	p.P88P	FBXO24_ENST00000468962.1_Silent_p.P76P|PCOLCE-AS1_ENST00000442166.2_RNA|FBXO24_ENST00000360609.2_Silent_p.P88P|FBXO24_ENST00000465843.1_Silent_p.P88P|FBXO24_ENST00000498195.1_3'UTR|FBXO24_ENST00000427939.2_Silent_p.P126P	NM_033506.2	NP_277041.1	O75426	FBX24_HUMAN	F-box protein 24	88						ubiquitin ligase complex	ubiquitin-protein ligase activity			NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2)	28	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					GACTCAGTCCGCGCCTCCAAG	0.602													9	39					0	0	1	0	0	A	100187922	G	A	100187922	2	1	123	1	0	0	0	0	0	0	0	1	5768	1074	38	1		1	FBXO24	7	100187922	Silent	SNP	G	TCGA-DU-8162-01A-21D-2253-08	44954879	100187922	58950741	20	21211											
FLNC	2318	broad.mit.edu	37	7	128490958	128490958	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-8162-01A-21D-2253-08	TCGA-DU-8162-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	337b4f73-2891-4f94-a24e-a6022bc871da	a92ca991-440e-4646-826f-2db2b4734fb2	g.chr7:128490958C>T	ENST00000325888.8	+	33	5761	c.5500C>T	c.(5500-5502)Cac>Tac	p.H1834Y	RP11-309L24.2_ENST00000469965.1_RNA|FLNC_ENST00000346177.6_Missense_Mutation_p.H1801Y	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	1834					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						GAAAGGCCTGCACCAGATGGG	0.617													16	173					0	0	1	0	0	T	128490958	C	T	128490958	3	4	123	1	0	0	0	0	1	0	0	0	5968	710	25	2	5630	2	FLNC	7	128490958	Missense_Mutation	SNP	C	TCGA-DU-8162-01A-21D-2253-08	28303036	128490958	30647705	21	21212											
MYOM2	9172	broad.mit.edu	37	8	2027640	2027640	+	Splice_Site	SNP	G	G	A			TCGA-DU-8162-01A-21D-2253-08	TCGA-DU-8162-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	337b4f73-2891-4f94-a24e-a6022bc871da	a92ca991-440e-4646-826f-2db2b4734fb2	g.chr8:2027640G>A	ENST00000262113.4	+	13	1603		c.e13-1		MYOM2_ENST00000523438.1_Intron	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2						muscle contraction	myosin filament	structural constituent of muscle			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		TCTCTCCGCAGCCGTTCATTT	0.512													43	293					0	0	1	0	0	A	2027640	G	A	2027640	5	1	123	1	0	0	0	0	0	0	1	0	10140	985	34	2	1508	2	MYOM2	8	2027640	Splice_Site	SNP	G	TCGA-DU-8162-01A-21D-2253-08		2027640	144336382	22	21213											
OPN4	94233	broad.mit.edu	37	10	88418311	88418311	+	Silent	SNP	C	C	T			TCGA-DU-8162-01A-21D-2253-08	TCGA-DU-8162-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	337b4f73-2891-4f94-a24e-a6022bc871da	a92ca991-440e-4646-826f-2db2b4734fb2	g.chr10:88418311C>T	ENST00000372071.2	+	5	755	c.528C>T	c.(526-528)gcC>gcT	p.A176A	OPN4_ENST00000241891.5_Silent_p.A165A	NM_001030015.2	NP_001025186.1	Q9UHM6	OPN4_HUMAN	opsin 4	165					phototransduction|protein-chromophore linkage|regulation of circadian rhythm|rhythmic process|visual perception	integral to membrane|plasma membrane	11-cis retinal binding|G-protein coupled photoreceptor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(5)|ovary(3)	18						CGGCCATCGCCCTGGACCGCT	0.612													8	62					0	0	1	0	0	T	88418311	C	T	88418311	2	4	123	1	0	0	0	0	0	0	0	1	10930	610	22	2		2	OPN4	10	88418311	Silent	SNP	C	TCGA-DU-8162-01A-21D-2253-08		88418311	47116436	23	21214											
C10orf12	26148	broad.mit.edu	37	10	98742401	98742401	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-8162-01A-21D-2253-08	TCGA-DU-8162-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	337b4f73-2891-4f94-a24e-a6022bc871da	a92ca991-440e-4646-826f-2db2b4734fb2	g.chr10:98742401C>A	ENST00000286067.2	+	1	1361	c.1254C>A	c.(1252-1254)agC>agA	p.S418R		NM_015652.2	NP_056467.2	Q8N655	CJ012_HUMAN	chromosome 10 open reading frame 12	418										NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		ACAACCAAAGCATCAGTGCTG	0.498													4	136					0.27861	0.27861	1	1	0	A	98742401	C	A	98742401	3	1	123	1	0	0	0	0	1	0	0	0	1593	709	25	5	1256	5	C10orf12	10	98742401	Missense_Mutation	SNP	C	TCGA-DU-8162-01A-21D-2253-08	10324090	98742401	36792346	24	21215											
IPO7	10527	broad.mit.edu	37	11	9459665	9459665	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-8162-01A-21D-2253-08	TCGA-DU-8162-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	337b4f73-2891-4f94-a24e-a6022bc871da	a92ca991-440e-4646-826f-2db2b4734fb2	g.chr11:9459665C>G	ENST00000379719.3	+	22	2670	c.2528C>G	c.(2527-2529)gCt>gGt	p.A843G		NM_006391.2	NP_006382.1	O95373	IPO7_HUMAN	importin 7	843					interspecies interaction between organisms|signal transduction	Golgi apparatus|nuclear pore|soluble fraction	protein transporter activity|Ran GTPase binding|small GTPase regulator activity			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217)		GGACTCTGTGCTCTTATTGAT	0.308													5	89					0	0	1	0	0	G	9459665	C	G	9459665	3	3	123	1	0	0	0	0	1	0	0	0	7841	797	28	4	2614	4	IPO7	11	9459665	Missense_Mutation	SNP	C	TCGA-DU-8162-01A-21D-2253-08		9459665	125546851	25	21216											
IQSEC3	440073	broad.mit.edu	37	12	274929	274929	+	Silent	SNP	C	C	T			TCGA-DU-8162-01A-21D-2253-08	TCGA-DU-8162-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	337b4f73-2891-4f94-a24e-a6022bc871da	a92ca991-440e-4646-826f-2db2b4734fb2	g.chr12:274929C>T	ENST00000538872.1	+	11	2962	c.2844C>T	c.(2842-2844)ctC>ctT	p.L948L	IQSEC3_ENST00000326261.4_Silent_p.L948L|IQSEC3_ENST00000382841.2_Silent_p.L645L|RP11-598F7.5_ENST00000540136.1_RNA			Q9UPP2	IQEC3_HUMAN	IQ motif and Sec7 domain 3	948	PH.				regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)		TGACCCCGCTCTCGGGCTCCG	0.612													4	51					0	0	1	0	0	T	274929	C	T	274929	2	4	123	1	0	0	0	0	0	0	0	1	7863	900	32	2		2	IQSEC3	12	274929	Silent	SNP	C	TCGA-DU-8162-01A-21D-2253-08		274929	133576966	26	21217											
RFX4	5992	broad.mit.edu	37	12	107090062	107090062	+	Splice_Site	SNP	T	T	G			TCGA-DU-8162-01A-21D-2253-08	TCGA-DU-8162-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	337b4f73-2891-4f94-a24e-a6022bc871da	a92ca991-440e-4646-826f-2db2b4734fb2	g.chr12:107090062T>G	ENST00000392842.1	+	8	1085	c.671T>G	c.(670-672)gTt>gGt	p.V224G	RP11-144F15.1_ENST00000551505.1_Intron|RFX4_ENST00000229387.5_Splice_Site_p.V130G|RFX4_ENST00000357881.4_Splice_Site_p.V233G	NM_213594.2	NP_998759.1	Q33E94	RFX4_HUMAN	regulatory factor X, 4 (influences HLA class II expression)	224					transcription, DNA-dependent	nucleus	DNA binding			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(20)|pancreas(1)|upper_aerodigestive_tract(1)	35						TCAATACAGGTTCAAAGTTTC	0.552													13	62					0	0	1	0	0	G	107090062	T	G	107090062	5	3	123	1	0	0	0	0	0	0	1	0	13317	1739	60	5	874	5	RFX4	12	107090062	Splice_Site	SNP	T	TCGA-DU-8162-01A-21D-2253-08	106815133	107090062	26761833	27	21218											
NYNRIN	57523	broad.mit.edu	37	14	24884570	24884570	+	Silent	SNP	G	G	A			TCGA-DU-8162-01A-21D-2253-08	TCGA-DU-8162-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	337b4f73-2891-4f94-a24e-a6022bc871da	a92ca991-440e-4646-826f-2db2b4734fb2	g.chr14:24884570G>A	ENST00000382554.3	+	9	3933	c.3615G>A	c.(3613-3615)ggG>ggA	p.G1205G		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	1205					DNA integration	integral to membrane	DNA binding			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						CCCAGTCAGGGGGTGACAGCC	0.622													10	76					0	0	1	0	0	A	24884570	G	A	24884570	2	1	123	1	0	0	0	0	0	0	0	1	10844	1219	43	2		2	NYNRIN	14	24884570	Silent	SNP	G	TCGA-DU-8162-01A-21D-2253-08		24884570	82464970	28	21219											
PYCARD	29108	broad.mit.edu	37	16	31213046	31213046	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-8162-01A-21D-2253-08	TCGA-DU-8162-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	337b4f73-2891-4f94-a24e-a6022bc871da	a92ca991-440e-4646-826f-2db2b4734fb2	g.chr16:31213046G>A	ENST00000247470.9	-	3	749	c.448C>T	c.(448-450)Cgg>Tgg	p.R150W	PYCARD_ENST00000350605.4_Missense_Mutation_p.R131W	NM_013258.4	NP_037390.2	Q9ULZ3	ASC_HUMAN	PYD and CARD domain containing	150	CARD.				induction of apoptosis|positive regulation of interleukin-1 beta secretion|positive regulation of NF-kappaB transcription factor activity|proteolysis|tumor necrosis factor-mediated signaling pathway	IkappaB kinase complex	caspase activator activity|cysteine-type endopeptidase activity|protein homodimerization activity|Pyrin domain binding			NS(1)|kidney(1)	2						GGCTCGGCCCGCACTGCCTGG	0.607													4	107					0	0	1	0	0	A	31213046	G	A	31213046	3	1	123	1	0	0	0	0	1	0	0	0	12906	1086	38	1	143	1	PYCARD	16	31213046	Missense_Mutation	SNP	G	TCGA-DU-8162-01A-21D-2253-08		31213046	59141707	29	21220											
SGK494	124923	broad.mit.edu	37	17	26939672	26939672	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-8162-01A-21D-2253-08	TCGA-DU-8162-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	337b4f73-2891-4f94-a24e-a6022bc871da	a92ca991-440e-4646-826f-2db2b4734fb2	g.chr17:26939672C>T	ENST00000301037.5	-	5	510	c.511G>A	c.(511-513)Ggg>Agg	p.G171R	RP11-192H23.4_ENST00000534850.1_Intron|RP11-192H23.4_ENST00000577790.1_Intron|SPAG5-AS1_ENST00000424210.1_RNA|SPAG5-AS1_ENST00000554154.1_RNA|SGK494_ENST00000469832.3_5'UTR|SPAG5-AS1_ENST00000414744.1_RNA	NM_001174103.1	NP_001167574.1																					CAGCTGTCCCCCAAGCTGTGT	0.488													9	50					0	0	1	0	0	T	26939672	C	T	26939672	3	4	123	1	0	0	0	0	1	0	0	0	14267	623	22	2	753	2	SGK494	17	26939672	Missense_Mutation	SNP	C	TCGA-DU-8162-01A-21D-2253-08		26939672	54255538	30	21221											
GIPC3	126326	broad.mit.edu	37	19	3589459	3589459	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-8162-01A-21D-2253-08	TCGA-DU-8162-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	337b4f73-2891-4f94-a24e-a6022bc871da	a92ca991-440e-4646-826f-2db2b4734fb2	g.chr19:3589459G>T	ENST00000322315.5	+	4	656	c.611G>T	c.(610-612)aGt>aTt	p.S204I		NM_133261.2	NP_573568.1	Q8TF64	GIPC3_HUMAN	GIPC PDZ domain containing family, member 3	204										breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	10				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0025)|STAD - Stomach adenocarcinoma(1328;0.18)		GGCCAGAGAAGTCGGTCCAGC	0.597													4	72					0.0215528	0.0228998	1	1	0	T	3589459	G	T	3589459	3	4	123	1	0	0	0	0	1	0	0	0	6436	1029	36	4	625	4	GIPC3	19	3589459	Missense_Mutation	SNP	G	TCGA-DU-8162-01A-21D-2253-08		3589459	55539524	31	21222											
SLC1A6	6511	broad.mit.edu	37	19	15073150	15073150	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-8162-01A-21D-2253-08	TCGA-DU-8162-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	337b4f73-2891-4f94-a24e-a6022bc871da	a92ca991-440e-4646-826f-2db2b4734fb2	g.chr19:15073150G>A	ENST00000598504.1	-	8	1958	c.599C>T	c.(598-600)aCg>aTg	p.T200M	SLC1A6_ENST00000600144.1_Missense_Mutation_p.T200M|SLC1A6_ENST00000544886.2_Missense_Mutation_p.T200M|SLC1A6_ENST00000430939.2_Missense_Mutation_p.T136M|SLC1A6_ENST00000221742.3_Missense_Mutation_p.T200M	NM_001272087.1	NP_001259016.1	P48664	EAA4_HUMAN	solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6	200					synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42					L-Glutamic Acid(DB00142)	GCTGTACTGCGTCTTGAACTG	0.532													15	88					0	0	1	0	0	A	15073150	G	A	15073150	3	1	123	1	0	0	0	0	1	0	0	0	14491	1145	40	1	1115	1	SLC1A6	19	15073150	Missense_Mutation	SNP	G	TCGA-DU-8162-01A-21D-2253-08	11483691	15073150	44055833	32	21223											
CYP4F12	66002	broad.mit.edu	37	19	15791263	15791263	+	Silent	SNP	C	C	T			TCGA-DU-8162-01A-21D-2253-08	TCGA-DU-8162-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	337b4f73-2891-4f94-a24e-a6022bc871da	a92ca991-440e-4646-826f-2db2b4734fb2	g.chr19:15791263C>T	ENST00000550308.1	+	5	839	c.459C>T	c.(457-459)ccC>ccT	p.P153P	CYP4F12_ENST00000324632.10_Silent_p.P153P	NM_023944.3	NP_076433			cytochrome P450, family 4, subfamily F, polypeptide 12											NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)					TGCTGACGCCCGCCTTCCATT	0.537													5	33					0	0	1	0	0	T	15791263	C	T	15791263	2	4	123	1	0	0	0	0	0	0	0	1	4210	639	23	1		1	CYP4F12	19	15791263	Silent	SNP	C	TCGA-DU-8162-01A-21D-2253-08	718113	15791263	43337720	33	21224											
ZNF681	148213	broad.mit.edu	37	19	23926839	23926839	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-8162-01A-21D-2253-08	TCGA-DU-8162-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	337b4f73-2891-4f94-a24e-a6022bc871da	a92ca991-440e-4646-826f-2db2b4734fb2	g.chr19:23926839A>G	ENST00000402377.3	-	4	1654	c.1513T>C	c.(1513-1515)Tcc>Ccc	p.S505P	ZNF681_ENST00000395385.3_Missense_Mutation_p.S436P	NM_138286.2	NP_612143.2	Q96N22	ZN681_HUMAN	zinc finger protein 681	505					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3)	21		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				CATTTGTAGGATTTCTCTCCA	0.373													3	30					0	0	1	0	0	G	23926839	A	G	23926839	3	3	123	1	0	0	0	0	1	0	0	0	18144	333	12	3	428	3	ZNF681	19	23926839	Missense_Mutation	SNP	A	TCGA-DU-8162-01A-21D-2253-08	8135576	23926839	35202144	34	21225											
ATP4A	495	broad.mit.edu	37	19	36046172	36046172	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-8162-01A-21D-2253-08	TCGA-DU-8162-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	337b4f73-2891-4f94-a24e-a6022bc871da	a92ca991-440e-4646-826f-2db2b4734fb2	g.chr19:36046172A>T	ENST00000262623.3	-	15	2250	c.2222T>A	c.(2221-2223)aTc>aAc	p.I741N		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	741					ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)	GGCTACTCCGATGTCTGCCTT	0.587													11	61					0	0	1	0	0	T	36046172	A	T	36046172	3	4	123	1	0	0	0	0	1	0	0	0	1144	333	12	4	917	4	ATP4A	19	36046172	Missense_Mutation	SNP	A	TCGA-DU-8162-01A-21D-2253-08	12119333	36046172	23082811	35	21226											
RRAS	6237	broad.mit.edu	37	19	50140129	50140129	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-8162-01A-21D-2253-08	TCGA-DU-8162-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	337b4f73-2891-4f94-a24e-a6022bc871da	a92ca991-440e-4646-826f-2db2b4734fb2	g.chr19:50140129C>T	ENST00000246792.3	-	3	398	c.296G>A	c.(295-297)cGt>cAt	p.R99H		NM_006270.3	NP_006261.1	P10301	RRAS_HUMAN	related RAS viral (r-ras) oncogene homolog	99					axon guidance|Ras protein signal transduction|synaptic transmission	intracellular|plasma membrane	GDP binding|GTP binding|GTPase activity|protein binding			endometrium(1)|kidney(1)|lung(2)|ovary(2)	6				OV - Ovarian serous cystadenocarcinoma(262;0.00114)|GBM - Glioblastoma multiforme(134;0.0206)		GTGGCCAGCACGCATGTACTG	0.667													15	131					0	0	1	0	0	T	50140129	C	T	50140129	3	4	123	1	0	0	0	0	1	0	0	0	13728	536	19	1	376	1	RRAS	19	50140129	Missense_Mutation	SNP	C	TCGA-DU-8162-01A-21D-2253-08	14093957	50140129	8988854	36	21227											
ASXL1	171023	broad.mit.edu	37	20	31023107	31023107	+	Silent	SNP	C	C	T	rs147278940	by1000genomes	TCGA-DU-8162-01A-21D-2253-08	TCGA-DU-8162-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	337b4f73-2891-4f94-a24e-a6022bc871da	a92ca991-440e-4646-826f-2db2b4734fb2	g.chr20:31023107C>T	ENST00000375687.4	+	13	3016	c.2592C>T	c.(2590-2592)gaC>gaT	p.D864D	ASXL1_ENST00000306058.5_Silent_p.D859D	NM_015338.5	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like 1 (Drosophila)	864					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						CATTTGATGACGAATTAGGGC	0.458			"F, N, Mis"		"MDS, CMML"								5	229					0	0	1	0	0	T	31023107	C	T	31023107	2	4	123	1	0	0	0	0	0	0	0	1	1065	535	19	1		1	ASXL1	20	31023107	Silent	SNP	C	TCGA-DU-8162-01A-21D-2253-08		31023107	32002413	37	21228											
RTN4R	65078	broad.mit.edu	37	22	20229976	20229976	+	Missense_Mutation	SNP	C	C	T	rs139685891		TCGA-DU-8162-01A-21D-2253-08	TCGA-DU-8162-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	337b4f73-2891-4f94-a24e-a6022bc871da	a92ca991-440e-4646-826f-2db2b4734fb2	g.chr22:20229976C>T	ENST00000043402.7	-	2	1118	c.680G>A	c.(679-681)cGc>cAc	p.R227H		NM_023004.5	NP_075380.1	Q9BZR6	RTN4R_HUMAN	reticulon 4 receptor	227					axonogenesis|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	anchored to membrane|cell surface|endoplasmic reticulum|plasma membrane	protein binding|receptor activity			lung(1)|ovary(1)|prostate(1)	3	Colorectal(54;0.0993)					TGTCATGAGGCGGCCAAGGTC	0.642													6	69					0	0	1	0	0	T	20229976	C	T	20229976	3	4	123	1	0	0	0	0	1	0	0	0	13782	768	27	1	745	1	RTN4R	22	20229976	Missense_Mutation	SNP	C	TCGA-DU-8162-01A-21D-2253-08		20229976	31074590	38	21229											
GPRASP1	9737	broad.mit.edu	37	X	101912054	101912054	+	Silent	SNP	G	G	A			TCGA-DU-8162-01A-21D-2253-08	TCGA-DU-8162-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	337b4f73-2891-4f94-a24e-a6022bc871da	a92ca991-440e-4646-826f-2db2b4734fb2	g.chrX:101912054G>A	ENST00000537097.1	+	6	4026	c.3213G>A	c.(3211-3213)ccG>ccA	p.P1071P	GPRASP1_ENST00000415986.1_Silent_p.P1071P|GPRASP1_ENST00000361600.5_Silent_p.P1071P|RP4-769N13.7_ENST00000602441.1_RNA|GPRASP1_ENST00000444152.1_Silent_p.P1071P	NM_001184727.1	NP_001171656.1	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting protein 1	1071	OPRD1-binding.					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						TTAGATTTCCGAAAGAGGCAG	0.512													20	132					0	0	1	0	0	A	101912054	G	A	101912054	2	1	123	1	0	0	0	0	0	0	0	1	6763	1045	37	1		1	GPRASP1	23	101912054	Silent	SNP	G	TCGA-DU-8162-01A-21D-2253-08		101912054	53358506	39	21230											
SEPT6	23157	broad.mit.edu	37	X	118774683	118774683	+	Silent	SNP	C	C	T	rs143382025		TCGA-DU-8162-01A-21D-2253-08	TCGA-DU-8162-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	337b4f73-2891-4f94-a24e-a6022bc871da	a92ca991-440e-4646-826f-2db2b4734fb2	g.chrX:118774683C>T	ENST00000394610.1	-	6	1023	c.759G>A	c.(757-759)gcG>gcA	p.A253A	SEPT6_ENST00000354416.3_Silent_p.A253A|SEPT6_ENST00000394616.4_Silent_p.A195A|SEPT6_ENST00000354228.4_Silent_p.A253A|SEPT6_ENST00000394617.2_Silent_p.A283A|SEPT6_ENST00000343984.5_Silent_p.A253A|SEPT6_ENST00000489216.1_Silent_p.A253A|SEPT6_ENST00000360156.7_Silent_p.A253A	NM_145799.3	NP_665798.1	Q14141	SEPT6_HUMAN	septin 6	253					cell cycle|cytokinesis|interspecies interaction between organisms	cleavage furrow|condensed chromosome kinetochore|midbody|septin complex|spindle	GTP binding|protein binding	p.A253A(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(3)	17						GATACTGCCGCGCCCTCATCA	0.547			T	MLL	AML								17	128					0	0	1	0	0	T	118774683	C	T	118774683	2	4	123	1	0	0	0	0	0	0	0	1	14122	755	27	1		1	SEPT6	23	118774683	Silent	SNP	C	TCGA-DU-8162-01A-21D-2253-08	16862629	118774683	36495877	40	21231											
MAP7D3	79649	broad.mit.edu	37	X	135313712	135313712	+	Silent	SNP	G	G	A			TCGA-DU-8162-01A-21D-2253-08	TCGA-DU-8162-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	337b4f73-2891-4f94-a24e-a6022bc871da	a92ca991-440e-4646-826f-2db2b4734fb2	g.chrX:135313712G>A	ENST00000316077.9	-	8	1624	c.1404C>T	c.(1402-1404)gaC>gaT	p.D468D	MAP7D3_ENST00000370663.5_Silent_p.D450D|MAP7D3_ENST00000370661.1_Silent_p.D433D	NM_024597.3	NP_078873.2	Q8IWC1	MA7D3_HUMAN	MAP7 domain containing 3	468						cytoplasm|spindle				central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1)	44	Acute lymphoblastic leukemia(192;0.000127)					CCTTTGGAGCGTCTCTCGCTT	0.423													4	136					0	0	1	0	0	A	135313712	G	A	135313712	2	1	123	1	0	0	0	0	0	0	0	1	9319	1136	40	1		1	MAP7D3	23	135313712	Silent	SNP	G	TCGA-DU-8162-01A-21D-2253-08	16539029	135313712	19956848	41	21232											
GABRE	2564	broad.mit.edu	37	X	151123279	151123279	+	Missense_Mutation	SNP	C	C	T	rs80186670	byFrequency	TCGA-DU-8162-01A-21D-2253-08	TCGA-DU-8162-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	337b4f73-2891-4f94-a24e-a6022bc871da	a92ca991-440e-4646-826f-2db2b4734fb2	g.chrX:151123279C>T	ENST00000370328.3	-	9	1468	c.1415G>A	c.(1414-1416)cGc>cAc	p.R472H	GABRE_ENST00000370325.1_3'UTR|GABRE_ENST00000483564.1_5'UTR	NM_004961.3	NP_004952.2	P78334	GBRE_HUMAN	gamma-aminobutyric acid (GABA) A receptor, epsilon	472					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	p.R359H(1)|p.R472H(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					GATGCAGAGGCGGCCCTGCTG	0.522													6	74					0	0	1	0	0	T	151123279	C	T	151123279	3	4	123	1	0	0	0	0	1	0	0	0	6205	768	27	1	109	1	GABRE	23	151123279	Missense_Mutation	SNP	C	TCGA-DU-8162-01A-21D-2253-08	15809567	151123279	4147281	42	21233											
FBLIM1	54751	broad.mit.edu	37	1	16101379	16101379	+	Silent	SNP	C	C	T			TCGA-DU-8163-01A-11D-2253-08	TCGA-DU-8163-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a240da2-0f4a-4b1c-b220-b220ad4d5749	216b595d-09da-487c-b319-fc9748c68efd	g.chr1:16101379C>T	ENST00000441801.2	+	6	1185	c.978C>T	c.(976-978)tgC>tgT	p.C326C	FBLIM1_ENST00000332305.5_Intron|FBLIM1_ENST00000375771.1_Intron|FBLIM1_ENST00000375766.3_Intron|FBLIM1_ENST00000400773.1_Intron	NM_001024215.1	NP_001019386.1	Q8WUP2	FBLI1_HUMAN	filamin binding LIM protein 1	0	LIM zinc-binding 3.|PLEKHC1-binding.				cell adhesion|cell junction assembly|regulation of cell shape	cell cortex|cytoskeleton|cytosol|focal adhesion|intracellular membrane-bounded organelle	zinc ion binding			large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	16		Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|READ - Rectum adenocarcinoma(331;0.0649)|STAD - Stomach adenocarcinoma(313;0.138)		GTCCTGGGTGCTGGGCCAGAG	0.572													3	19					0	0	1	0	0	T	16101379	C	T	16101379	2	4	124	1	0	0	0	0	0	0	0	1	5730	805	28	2		2	FBLIM1	1	16101379	Silent	SNP	C	TCGA-DU-8163-01A-11D-2253-08		16101379	233149242	1	21234											
CLCNKA	1187	broad.mit.edu	37	1	16352610	16352610	+	Silent	SNP	A	A	G			TCGA-DU-8163-01A-11D-2253-08	TCGA-DU-8163-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a240da2-0f4a-4b1c-b220-b220ad4d5749	216b595d-09da-487c-b319-fc9748c68efd	g.chr1:16352610A>G	ENST00000375692.1	+	6	494	c.366A>G	c.(364-366)ggA>ggG	p.G122G	CLCNKA_ENST00000420078.1_Silent_p.G122G|CLCNKA_ENST00000331433.4_Silent_p.G122G|CLCNKA_ENST00000464764.1_3'UTR|CLCNKA_ENST00000439316.2_Silent_p.G79G			P51800	CLCKA_HUMAN	chloride channel, voltage-sensitive Ka	122					excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1)	19		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	Niflumic Acid(DB04552)	AAGGTTCTGGAATCCCGGAGC	0.552													49	338					0	0	1	0	0	G	16352610	A	G	16352610	2	3	124	1	0	0	0	0	0	0	0	1	3492	233	9	3		3	CLCNKA	1	16352610	Silent	SNP	A	TCGA-DU-8163-01A-11D-2253-08	251231	16352610	232898011	2	21235											
CLCNKB	1188	broad.mit.edu	37	1	16378296	16378296	+	Silent	SNP	A	A	C			TCGA-DU-8163-01A-11D-2253-08	TCGA-DU-8163-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a240da2-0f4a-4b1c-b220-b220ad4d5749	216b595d-09da-487c-b319-fc9748c68efd	g.chr1:16378296A>C	ENST00000375679.4	+	14	1500	c.1389A>C	c.(1387-1389)ccA>ccC	p.P463P	CLCNKB_ENST00000375667.3_Silent_p.P294P	NM_000085.4	NP_000076.2			chloride channel, voltage-sensitive Kb											breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	21		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)		CCATCATGCCAGGGGGGTATG	0.622													5	124					0	0	1	0	0	C	16378296	A	C	16378296	2	2	124	1	0	0	0	0	0	0	0	1	3493	175	7	5		5	CLCNKB	1	16378296	Silent	SNP	A	TCGA-DU-8163-01A-11D-2253-08	25686	16378296	232872325	3	21236											
CAPN2	824	broad.mit.edu	37	1	223900426	223900426	+	Silent	SNP	C	C	G			TCGA-DU-8163-01A-11D-2253-08	TCGA-DU-8163-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a240da2-0f4a-4b1c-b220-b220ad4d5749	216b595d-09da-487c-b319-fc9748c68efd	g.chr1:223900426C>G	ENST00000295006.5	+	1	393	c.84C>G	c.(82-84)ctC>ctG	p.L28L	CAPN2_ENST00000433674.2_Intron	NM_001748.4	NP_001739	P17655	CAN2_HUMAN	calpain 2, (m/II) large subunit	28					proteolysis	cytoplasm|plasma membrane				breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|stomach(3)	29				GBM - Glioblastoma multiforme(131;0.109)		TCAAGTACCTCAACCAGGACT	0.716													9	16					0	0	1	0	0	G	223900426	C	G	223900426	2	3	124	1	0	0	0	0	0	0	0	1	2645	813	29	5		5	CAPN2	1	223900426	Silent	SNP	C	TCGA-DU-8163-01A-11D-2253-08	207522130	223900426	25350195	4	21237											
OR2T8	343172	broad.mit.edu	37	1	248084484	248084484	+	Silent	SNP	G	G	A			TCGA-DU-8163-01A-11D-2253-08	TCGA-DU-8163-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a240da2-0f4a-4b1c-b220-b220ad4d5749	216b595d-09da-487c-b319-fc9748c68efd	g.chr1:248084484G>A	ENST00000319968.4	+	1	165	c.165G>A	c.(163-165)acG>acA	p.T55T		NM_001005522.1	NP_001005522.1	A6NH00	OR2T8_HUMAN	olfactory receptor, family 2, subfamily T, member 8	55					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(20)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0211)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GGCTCCACACGCCCATGTACT	0.522													4	111					0	0	1	0	0	A	248084484	G	A	248084484	2	1	124	1	0	0	0	0	0	0	0	1	11078	1074	38	1		1	OR2T8	1	248084484	Silent	SNP	G	TCGA-DU-8163-01A-11D-2253-08	24184058	248084484	1166137	5	21238											
OR2T12	127064	broad.mit.edu	37	1	248458716	248458716	+	Silent	SNP	C	C	T			TCGA-DU-8163-01A-11D-2253-08	TCGA-DU-8163-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a240da2-0f4a-4b1c-b220-b220ad4d5749	216b595d-09da-487c-b319-fc9748c68efd	g.chr1:248458716C>T	ENST00000317996.1	-	1	164	c.165G>A	c.(163-165)agG>agA	p.R55R		NM_001004692.1	NP_001004692.1	Q8NG77	O2T12_HUMAN	olfactory receptor, family 2, subfamily T, member 12	55					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0201)			AGTACATGGGCCTGTGGAGCC	0.527													8	30					0	0	1	0	0	T	248458716	C	T	248458716	2	4	124	1	0	0	0	0	0	0	0	1	11067	738	26	2		2	OR2T12	1	248458716	Silent	SNP	C	TCGA-DU-8163-01A-11D-2253-08	374232	248458716	791905	6	21239											
DYNC2LI1	51626	broad.mit.edu	37	2	44028017	44028017	+	Missense_Mutation	SNP	G	G	A	rs141895414		TCGA-DU-8163-01A-11D-2253-08	TCGA-DU-8163-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a240da2-0f4a-4b1c-b220-b220ad4d5749	216b595d-09da-487c-b319-fc9748c68efd	g.chr2:44028017G>A	ENST00000260605.8	+	9	792	c.692G>A	c.(691-693)cGt>cAt	p.R231H	DYNC2LI1_ENST00000489222.2_3'UTR|DYNC2LI1_ENST00000443170.3_Missense_Mutation_p.R105H|DYNC2LI1_ENST00000605786.1_Missense_Mutation_p.R232H	NM_001193464.1|NM_016008.3	NP_001180393.1|NP_057092.2	Q8TCX1	DC2L1_HUMAN	dynein, cytoplasmic 2, light intermediate chain 1	231						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)				CTAAAAATACGTGGAGTTATC	0.313													5	37					0	0	1	0	0	A	44028017	G	A	44028017	3	1	124	1	0	0	0	0	1	0	0	0	4873	1145	40	1	825	1	DYNC2LI1	2	44028017	Missense_Mutation	SNP	G	TCGA-DU-8163-01A-11D-2253-08		44028017	199171356	7	21240											
FAHD2A	51011	broad.mit.edu	37	2	96071501	96071501	+	Silent	SNP	G	G	A			TCGA-DU-8163-01A-11D-2253-08	TCGA-DU-8163-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a240da2-0f4a-4b1c-b220-b220ad4d5749	216b595d-09da-487c-b319-fc9748c68efd	g.chr2:96071501G>A	ENST00000233379.4	+	2	348	c.195G>A	c.(193-195)acG>acA	p.T65T	FAHD2A_ENST00000447036.1_Silent_p.T65T	NM_016044.2	NP_057128.2	Q96GK7	FAH2A_HUMAN	fumarylacetoacetate hydrolase domain containing 2A	65							hydrolase activity|metal ion binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(3)|ovary(1)	8						TCCCGAAGACGATGACGCAGT	0.617													7	27					0	0	1	0	0	A	96071501	G	A	96071501	2	1	124	1	0	0	0	0	0	0	0	1	5404	1045	37	1		1	FAHD2A	2	96071501	Silent	SNP	G	TCGA-DU-8163-01A-11D-2253-08	52043484	96071501	147127872	8	21241											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-DU-8163-01A-11D-2253-08	TCGA-DU-8163-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a240da2-0f4a-4b1c-b220-b220ad4d5749	216b595d-09da-487c-b319-fc9748c68efd	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	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								21	58					0	0	1	0	0	T	209113112	C	T	209113112	3	4	124	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-DU-8163-01A-11D-2253-08	113041611	209113112	34086261	9	21242											
XIRP1	165904	broad.mit.edu	37	3	39227182	39227182	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-8163-01A-11D-2253-08	TCGA-DU-8163-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a240da2-0f4a-4b1c-b220-b220ad4d5749	216b595d-09da-487c-b319-fc9748c68efd	g.chr3:39227182G>A	ENST00000340369.3	-	2	3983	c.3755C>T	c.(3754-3756)gCc>gTc	p.A1252V	XIRP1_ENST00000421646.1_Intron|XIRP1_ENST00000396251.1_Intron	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	1252	Pro-rich.						actin binding			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		AGGAACAAAGGCATTATGGGG	0.622													10	25					0	0	1	0	0	A	39227182	G	A	39227182	3	1	124	1	0	0	0	0	1	0	0	0	17489	1203	42	2	1780	2	XIRP1	3	39227182	Missense_Mutation	SNP	G	TCGA-DU-8163-01A-11D-2253-08		39227182	158795248	10	21243											
TRH	7200	broad.mit.edu	37	3	129695840	129695840	+	Silent	SNP	G	G	A			TCGA-DU-8163-01A-11D-2253-08	TCGA-DU-8163-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a240da2-0f4a-4b1c-b220-b220ad4d5749	216b595d-09da-487c-b319-fc9748c68efd	g.chr3:129695840G>A	ENST00000302649.3	+	3	1037	c.510G>A	c.(508-510)gaG>gaA	p.E170E	TRH_ENST00000507066.1_Silent_p.E166E	NM_007117.3	NP_009048.1	P20396	TRH_HUMAN	thyrotropin-releasing hormone	170					cell-cell signaling|hormone-mediated signaling pathway	extracellular region|soluble fraction	neuropeptide hormone activity|thyrotropin-releasing hormone activity	p.E170E(1)		NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)	14						Gggaagaagaggaggaggagg	0.642													4	64					0	0	1	0	0	A	129695840	G	A	129695840	2	1	124	1	0	0	0	0	0	0	0	1	16539	991	35	2		2	TRH	3	129695840	Silent	SNP	G	TCGA-DU-8163-01A-11D-2253-08	90468658	129695840	68326590	11	21244											
DLG1	1739	broad.mit.edu	37	3	196812552	196812552	+	Silent	SNP	G	G	A			TCGA-DU-8163-01A-11D-2253-08	TCGA-DU-8163-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a240da2-0f4a-4b1c-b220-b220ad4d5749	216b595d-09da-487c-b319-fc9748c68efd	g.chr3:196812552G>A	ENST00000346964.2	-	17	2025	c.1836C>T	c.(1834-1836)atC>atT	p.I612I	DLG1_ENST00000392382.2_Silent_p.I579I|DLG1_ENST00000419354.1_Silent_p.I612I|DLG1_ENST00000422288.1_Silent_p.I561I|DLG1_ENST00000450955.1_Silent_p.I579I|DLG1_ENST00000448528.2_Silent_p.I612I|DLG1_ENST00000314062.3_Silent_p.I561I|DLG1_ENST00000357674.4_Silent_p.I579I|DLG1_ENST00000452595.1_Silent_p.I496I|DLG1_ENST00000443183.1_Silent_p.I496I	NM_004087.2	NP_004078.2	Q12959	DLG1_HUMAN	discs, large homolog 1 (Drosophila)	612	SH3.				actin filament organization|axon guidance|cell-cell adhesion|cortical actin cytoskeleton organization|endothelial cell proliferation|establishment or maintenance of cell polarity|interspecies interaction between organisms|mitotic cell cycle G1/S transition checkpoint|negative regulation of mitotic cell cycle|protein localization in plasma membrane|synaptic transmission|tight junction assembly	basolateral plasma membrane|cytosol|endoplasmic reticulum membrane|immunological synapse|MPP7-DLG1-LIN7 complex|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|tight junction	cytoskeletal protein binding|guanylate kinase activity|L27 domain binding|phosphatase binding|phosphoprotein phosphatase activity|potassium channel regulator activity|protein binding|protein C-terminus binding|protein kinase binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(143;6.22e-10)|Ovarian(172;0.0418)|Breast(254;0.0589)	Lung NSC(153;0.133)	Epithelial(36;3.23e-24)|all cancers(36;2.15e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0148)		TAACATGGAGGATATCTCCAA	0.448													6	97					0	0	1	0	0	A	196812552	G	A	196812552	2	1	124	1	0	0	0	0	0	0	0	1	4582	1164	41	2		2	DLG1	3	196812552	Silent	SNP	G	TCGA-DU-8163-01A-11D-2253-08	67116712	196812552	1209878	12	21245											
IRX4	50805	broad.mit.edu	37	5	1879669	1879671	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-DU-8163-01A-11D-2253-08	TCGA-DU-8163-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a240da2-0f4a-4b1c-b220-b220ad4d5749	216b595d-09da-487c-b319-fc9748c68efd	g.chr5:1879669_1879671delCCT	ENST00000505790.1	-	5	1139_1141	c.683_685delAGG	c.(682-687)gagggg>ggg	p.E228del	IRX4_ENST00000513692.1_In_Frame_Del_p.E228del|IRX4_ENST00000505938.1_5'UTR|IRX4_ENST00000231357.2_In_Frame_Del_p.E228del	NM_001278634.1	NP_001265563.1	P78413	IRX4_HUMAN	iroquois homeobox 4	228	Poly-Glu.				heart development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|lung(7)|ovary(1)|prostate(1)	10				GBM - Glioblastoma multiforme(108;0.242)		tcctcgcccccctcctcctcctc	0.685													7	52	---	---	---	---						-	1879671	CCT	-	1879669	7	5	124	1	0	1	0	1	0	0	0	0	7890	623	22	0	882	0	IRX4	5	1879669	In_Frame_Del	DEL	CCT	TCGA-DU-8163-01A-11D-2253-08		1879669	179035591	13	21246											
ADAMTS19	171019	broad.mit.edu	37	5	129037126	129037126	+	Silent	SNP	A	A	G			TCGA-DU-8163-01A-11D-2253-08	TCGA-DU-8163-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a240da2-0f4a-4b1c-b220-b220ad4d5749	216b595d-09da-487c-b319-fc9748c68efd	g.chr5:129037126A>G	ENST00000274487.4	+	20	3127	c.2982A>G	c.(2980-2982)aaA>aaG	p.K994K	CTC-575N7.1_ENST00000503616.1_RNA|ADAMTS19_ENST00000509467.1_3'UTR	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	994	TSP type-1 3.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		CTTGTGGAAAAGGAATGCAGA	0.483													3	130					0	0	1	0	0	G	129037126	A	G	129037126	2	3	124	1	0	0	0	0	0	0	0	1	263	69	3	3		3	ADAMTS19	5	129037126	Silent	SNP	A	TCGA-DU-8163-01A-11D-2253-08	127157457	129037126	51878134	14	21247											
UNC5A	90249	broad.mit.edu	37	5	176289826	176289826	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-8163-01A-11D-2253-08	TCGA-DU-8163-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a240da2-0f4a-4b1c-b220-b220ad4d5749	216b595d-09da-487c-b319-fc9748c68efd	g.chr5:176289826G>A	ENST00000329542.4	+	2	546	c.272G>A	c.(271-273)cGc>cAc	p.R91H		NM_133369.2	NP_588610.2	Q6ZN44	UNC5A_HUMAN	unc-5 homolog A (C. elegans)	91	Ig-like.				apoptosis|axon guidance|regulation of apoptosis	integral to membrane|plasma membrane				endometrium(4)|kidney(3)|large_intestine(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	34	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GTGATCGAGCGCAGCACAGAC	0.677													5	321					0	0	1	0	0	A	176289826	G	A	176289826	3	1	124	1	0	0	0	0	1	0	0	0	17051	1087	38	1	278	1	UNC5A	5	176289826	Missense_Mutation	SNP	G	TCGA-DU-8163-01A-11D-2253-08	47252700	176289826	4625434	15	21248											
KDM1B	221656	broad.mit.edu	37	6	18218071	18218071	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-8163-01A-11D-2253-08	TCGA-DU-8163-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a240da2-0f4a-4b1c-b220-b220ad4d5749	216b595d-09da-487c-b319-fc9748c68efd	g.chr6:18218071T>G	ENST00000388870.2	+	21	2584	c.2343T>G	c.(2341-2343)gaT>gaG	p.D781E	KDM1B_ENST00000546309.2_Missense_Mutation_p.D71E|KDM1B_ENST00000297792.5_Missense_Mutation_p.D548E|KDM1B_ENST00000397244.1_Missense_Mutation_p.D549E			Q8NB78	KDM1B_HUMAN	lysine (K)-specific demethylase 1B	780					multicellular organismal development|regulation of DNA methylation|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-monomethyl-K4 specific)|oxidoreductase activity|zinc ion binding			breast(2)|endometrium(5)|large_intestine(6)|lung(8)|skin(3)|upper_aerodigestive_tract(1)	25						AGGCCTACGATATCATTGCTG	0.438													4	81					0	0	1	0	0	G	18218071	T	G	18218071	3	3	124	1	0	0	0	0	1	0	0	0	8167	1403	49	4	1702	4	KDM1B	6	18218071	Missense_Mutation	SNP	T	TCGA-DU-8163-01A-11D-2253-08		18218071	152896996	16	21249											
HIST1H2BB	3018	broad.mit.edu	37	6	26043861	26043861	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-8163-01A-11D-2253-08	TCGA-DU-8163-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a240da2-0f4a-4b1c-b220-b220ad4d5749	216b595d-09da-487c-b319-fc9748c68efd	g.chr6:26043861G>C	ENST00000357905.2	-	1	24	c.25C>G	c.(25-27)Cca>Gca	p.P9A		NM_021062.2	NP_066406.1	P33778	H2B1B_HUMAN	histone cluster 1, H2bb	9					nucleosome assembly	nucleosome|nucleus	DNA binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7						TTAGGGGCTGGAGCAGACTTA	0.458													4	46					0	0	1	0	0	C	26043861	G	C	26043861	3	2	124	1	0	0	0	0	1	0	0	0	7182	1174	41	5	359	5	HIST1H2BB	6	26043861	Missense_Mutation	SNP	G	TCGA-DU-8163-01A-11D-2253-08	7825790	26043861	145071206	17	21250											
TFEB	7942	broad.mit.edu	37	6	41658430	41658430	+	Silent	SNP	G	G	A			TCGA-DU-8163-01A-11D-2253-08	TCGA-DU-8163-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a240da2-0f4a-4b1c-b220-b220ad4d5749	216b595d-09da-487c-b319-fc9748c68efd	g.chr6:41658430G>A	ENST00000394283.1	-	3	1665	c.439C>T	c.(439-441)Ctg>Ttg	p.L147L	TFEB_ENST00000373033.1_Silent_p.L147L|TFEB_ENST00000358871.2_Silent_p.L161L|TFEB_ENST00000420312.1_Intron|TFEB_ENST00000230323.4_Silent_p.L147L|TFEB_ENST00000403298.4_Silent_p.L147L			P19484	TFEB_HUMAN	transcription factor EB	147					embryonic placenta development|humoral immune response|positive regulation of transcription from RNA polymerase II promoter	cytoplasm	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	11	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;7.61e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507)			CCAATGTGCAGCATGGCCATG	0.642			T	ALPHA	renal (childhood epithelioid)								3	59					0	0	1	0	0	A	41658430	G	A	41658430	2	1	124	1	0	0	0	0	0	0	0	1	15861	962	34	2		2	TFEB	6	41658430	Silent	SNP	G	TCGA-DU-8163-01A-11D-2253-08	15614569	41658430	129456637	18	21251											
RUNX2	860	broad.mit.edu	37	6	45390463	45390463	+	Silent	SNP	G	G	A			TCGA-DU-8163-01A-11D-2253-08	TCGA-DU-8163-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a240da2-0f4a-4b1c-b220-b220ad4d5749	216b595d-09da-487c-b319-fc9748c68efd	g.chr6:45390463G>A	ENST00000371438.1	+	2	550	c.192G>A	c.(190-192)caG>caA	p.Q64Q	RUNX2_ENST00000576263.1_Silent_p.Q64Q|RUNX2_ENST00000541979.1_Silent_p.Q132Q|RUNX2_ENST00000371436.6_Silent_p.Q64Q|RUNX2_ENST00000371432.3_Silent_p.Q50Q|RUNX2_ENST00000359524.5_Silent_p.Q50Q|RUNX2_ENST00000352853.5_Silent_p.Q132Q|RUNX2_ENST00000465038.2_Silent_p.Q64Q	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	64	Poly-Gln.				negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						agcagcagcagcaacagcagc	0.736													4	34					0	0	1	0	0	A	45390463	G	A	45390463	2	1	124	1	0	0	0	0	0	0	0	1	13800	962	34	2		2	RUNX2	6	45390463	Silent	SNP	G	TCGA-DU-8163-01A-11D-2253-08	3732033	45390463	125724604	19	21252	107	2									
RUNX2	860	broad.mit.edu	37	6	45390466	45390466	+	Silent	SNP	A	A	G			TCGA-DU-8163-01A-11D-2253-08	TCGA-DU-8163-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a240da2-0f4a-4b1c-b220-b220ad4d5749	216b595d-09da-487c-b319-fc9748c68efd	g.chr6:45390466A>G	ENST00000371438.1	+	2	553	c.195A>G	c.(193-195)caA>caG	p.Q65Q	RUNX2_ENST00000576263.1_Silent_p.Q65Q|RUNX2_ENST00000541979.1_Silent_p.Q133Q|RUNX2_ENST00000371436.6_Silent_p.Q65Q|RUNX2_ENST00000371432.3_Silent_p.Q51Q|RUNX2_ENST00000359524.5_Silent_p.Q51Q|RUNX2_ENST00000352853.5_Silent_p.Q133Q|RUNX2_ENST00000465038.2_Silent_p.Q65Q	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	65	Poly-Gln.				negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						agcagcagcaacagcagcagc	0.731													3	31					0	0	1	0	0	G	45390466	A	G	45390466	2	3	124	1	0	0	0	0	0	0	0	1	13800	40	2	3		3	RUNX2	6	45390466	Silent	SNP	A	TCGA-DU-8163-01A-11D-2253-08	3	45390466	125724601	20	21253	107	2									
PSD3	23362	broad.mit.edu	37	8	18432755	18432755	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-8163-01A-11D-2253-08	TCGA-DU-8163-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a240da2-0f4a-4b1c-b220-b220ad4d5749	216b595d-09da-487c-b319-fc9748c68efd	g.chr8:18432755A>G	ENST00000440756.2	-	13	2630	c.2528T>C	c.(2527-2529)tTg>tCg	p.L843S	PSD3_ENST00000327040.8_Missense_Mutation_p.L841S|PSD3_ENST00000523619.1_Missense_Mutation_p.L776S|PSD3_ENST00000428502.2_Missense_Mutation_p.L170S|PSD3_ENST00000286485.8_Missense_Mutation_p.L307S			Q9NYI0	PSD3_HUMAN	pleckstrin and Sec7 domain containing 3	842	PH.				regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		AGCGTTTTTCAAGTCCTCTTC	0.418													3	69					0	0	1	0	0	G	18432755	A	G	18432755	3	3	124	1	0	0	0	0	1	0	0	0	12697	131	5	3	637	3	PSD3	8	18432755	Missense_Mutation	SNP	A	TCGA-DU-8163-01A-11D-2253-08		18432755	127931267	21	21254											
OR51E1	143503	broad.mit.edu	37	11	4674358	4674358	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-8163-01A-11D-2253-08	TCGA-DU-8163-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a240da2-0f4a-4b1c-b220-b220ad4d5749	216b595d-09da-487c-b319-fc9748c68efd	g.chr11:4674358A>C	ENST00000396952.5	+	2	1252	c.602A>C	c.(601-603)tAt>tCt	p.Y201S	OR51E1_ENST00000530215.1_Intron	NM_152430.3	NP_689643.2	Q8TCB6	O51E1_HUMAN	olfactory receptor, family 51, subfamily E, member 1	200					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|skin(1)|stomach(2)	30		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;7.37e-14)|GBM - Glioblastoma multiforme(2;2.85e-05)|BRCA - Breast invasive adenocarcinoma(625;0.00222)|LUSC - Lung squamous cell carcinoma(625;0.19)		AATGTCGTCTATGGCCTTATC	0.493													4	136					0	0	1	0	0	C	4674358	A	C	4674358	3	2	124	1	0	0	0	0	1	0	0	0	11142	449	16	4	604	4	OR51E1	11	4674358	Missense_Mutation	SNP	A	TCGA-DU-8163-01A-11D-2253-08		4674358	130332158	22	21255											
OR10A4	283297	broad.mit.edu	37	11	6898019	6898019	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-8163-01A-11D-2253-08	TCGA-DU-8163-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a240da2-0f4a-4b1c-b220-b220ad4d5749	216b595d-09da-487c-b319-fc9748c68efd	g.chr11:6898019C>G	ENST00000379829.2	+	1	164	c.141C>G	c.(139-141)atC>atG	p.I47M		NM_207186.2	NP_997069.2	Q9H209	O10A4_HUMAN	olfactory receptor, family 10, subfamily A, member 4	47					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(2)|liver(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	31		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		TCCTCATCATCCTGGTCACTA	0.453													9	125					0	0	1	0	0	G	6898019	C	G	6898019	3	3	124	1	0	0	0	0	1	0	0	0	10940	845	30	5	143	5	OR10A4	11	6898019	Missense_Mutation	SNP	C	TCGA-DU-8163-01A-11D-2253-08	2223661	6898019	128108497	23	21256											
MICALCL	84953	broad.mit.edu	37	11	12315446	12315446	+	Silent	SNP	A	A	G			TCGA-DU-8163-01A-11D-2253-08	TCGA-DU-8163-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a240da2-0f4a-4b1c-b220-b220ad4d5749	216b595d-09da-487c-b319-fc9748c68efd	g.chr11:12315446A>G	ENST00000256186.2	+	3	759	c.468A>G	c.(466-468)aaA>aaG	p.K156K		NM_032867.2	NP_116256.2	Q6ZW33	MICLK_HUMAN	MICAL C-terminal like	156					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	mitogen-activated protein kinase binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	30				Epithelial(150;0.00177)		ACCGGGAAAAAGGGAGTACTG	0.562													3	37					0	0	1	0	0	G	12315446	A	G	12315446	2	3	124	1	0	0	0	0	0	0	0	1	9620	69	3	3		3	MICALCL	11	12315446	Silent	SNP	A	TCGA-DU-8163-01A-11D-2253-08	5417427	12315446	122691070	24	21257											
PAX6	5080	broad.mit.edu	37	11	31816308	31816308	+	Silent	SNP	T	T	C			TCGA-DU-8163-01A-11D-2253-08	TCGA-DU-8163-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a240da2-0f4a-4b1c-b220-b220ad4d5749	216b595d-09da-487c-b319-fc9748c68efd	g.chr11:31816308T>C	ENST00000419022.1	-	9	1062	c.594A>G	c.(592-594)ggA>ggG	p.G198G	PAX6_ENST00000379111.2_Silent_p.G184G|PAX6_ENST00000379123.5_Silent_p.G184G|PAX6_ENST00000379107.2_Silent_p.G198G|PAX6_ENST00000379129.2_Silent_p.G198G|PAX6_ENST00000379132.3_Silent_p.G184G|PAX6_ENST00000379115.4_Silent_p.G198G|PAX6_ENST00000241001.8_Silent_p.G184G	NM_001127612.1|NM_001258462.1|NM_001258463.1	NP_001121084.1|NP_001245391.1|NP_001245392.1	P26367	PAX6_HUMAN	paired box 6	184	Gln/Gly-rich.				blood vessel development|central nervous system development|cornea development in camera-type eye|glucose homeostasis|iris morphogenesis|negative regulation of neurogenesis|neuron fate commitment|pancreatic A cell development|positive regulation of transcription, DNA-dependent|response to wounding|visual perception	cytoplasm|nuclear chromatin	R-SMAD binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|ubiquitin-protein ligase activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)	35	Lung SC(675;0.225)					TGGTATTCTCTCCCCCTCCTT	0.463									Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation				3	80					0	0	1	0	0	C	31816308	T	C	31816308	2	2	124	1	0	0	0	0	0	0	0	1	11530	1538	54	3		3	PAX6	11	31816308	Silent	SNP	T	TCGA-DU-8163-01A-11D-2253-08	19500862	31816308	103190208	25	21258											
GLI1	2735	broad.mit.edu	37	12	57861814	57861814	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-8163-01A-11D-2253-08	TCGA-DU-8163-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a240da2-0f4a-4b1c-b220-b220ad4d5749	216b595d-09da-487c-b319-fc9748c68efd	g.chr12:57861814G>A	ENST00000228682.2	+	10	1206	c.1115G>A	c.(1114-1116)cGc>cAc	p.R372H	GLI1_ENST00000546141.1_Missense_Mutation_p.R331H|GLI1_ENST00000543426.1_Missense_Mutation_p.R244H	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GLI family zinc finger 1	372					epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			TGCACCAAACGCTATACAGAT	0.542													10	91					0	0	1	0	0	A	57861814	G	A	57861814	3	1	124	1	0	0	0	0	1	0	0	0	6479	1087	38	1	1149	1	GLI1	12	57861814	Missense_Mutation	SNP	G	TCGA-DU-8163-01A-11D-2253-08		57861814	75990081	26	21259											
RASL11A	387496	broad.mit.edu	37	13	27847183	27847183	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-8163-01A-11D-2253-08	TCGA-DU-8163-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a240da2-0f4a-4b1c-b220-b220ad4d5749	216b595d-09da-487c-b319-fc9748c68efd	g.chr13:27847183A>T	ENST00000241463.4	+	4	899	c.281A>T	c.(280-282)cAg>cTg	p.Q94L	RASL11A_ENST00000480803.1_3'UTR	NM_206827.1	NP_996563.1	Q6T310	RSLBA_HUMAN	RAS-like, family 11, member A	94	Small GTPase-like.				positive regulation of transcription from RNA polymerase I promoter|small GTPase mediated signal transduction|transcription, DNA-dependent	membrane|nucleolus	GTP binding|GTPase activity			breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|prostate(1)	10		Lung SC(185;0.0161)	Colorectal(13;0.00042)|READ - Rectum adenocarcinoma(15;0.105)	all cancers(112;0.0173)|GBM - Glioblastoma multiforme(144;0.0557)|OV - Ovarian serous cystadenocarcinoma(117;0.152)|Epithelial(112;0.164)		AGCCTCCCCCAGGTCGTCGAT	0.498													4	124					0	0	1	0	0	T	27847183	A	T	27847183	3	4	124	1	0	0	0	0	1	0	0	0	13133	188	7	5	295	5	RASL11A	13	27847183	Missense_Mutation	SNP	A	TCGA-DU-8163-01A-11D-2253-08		27847183	87322695	27	21260											
TJP1	7082	broad.mit.edu	37	15	30001004	30001004	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-8163-01A-11D-2253-08	TCGA-DU-8163-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a240da2-0f4a-4b1c-b220-b220ad4d5749	216b595d-09da-487c-b319-fc9748c68efd	g.chr15:30001004G>A	ENST00000346128.6	-	25	5083	c.4609C>T	c.(4609-4611)Cga>Tga	p.R1537*	TJP1_ENST00000400011.2_Nonsense_Mutation_p.R1461*|TJP1_ENST00000356107.6_Nonsense_Mutation_p.R1537*|TJP1_ENST00000545208.2_Nonsense_Mutation_p.R1457*	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN	tight junction protein 1	1537					cell-cell junction assembly|cellular component disassembly involved in apoptosis	basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction		p.R1537R(1)		breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		TCAAATGGTCGGGCAGAACTT	0.403													71	160					0	0	1	0	0	A	30001004	G	A	30001004	4	1	124	1	0	0	0	0	0	1	0	0	15989	1124	39	1	653	1	TJP1	15	30001004	Nonsense_Mutation	SNP	G	TCGA-DU-8163-01A-11D-2253-08		30001004	72530388	28	21261											
GCNT3	9245	broad.mit.edu	37	15	59911328	59911328	+	Silent	SNP	G	G	A	rs139760962		TCGA-DU-8163-01A-11D-2253-08	TCGA-DU-8163-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a240da2-0f4a-4b1c-b220-b220ad4d5749	216b595d-09da-487c-b319-fc9748c68efd	g.chr15:59911328G>A	ENST00000396065.1	+	3	1339	c.891G>A	c.(889-891)gcG>gcA	p.A297A	GCNT3_ENST00000560585.1_Silent_p.A297A	NM_004751.2	NP_004742.1	O95395	GCNT3_HUMAN	glucosaminyl (N-acetyl) transferase 3, mucin type	297					protein O-linked glycosylation	Golgi membrane|integral to membrane|membrane fraction	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity			central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CAGGGAATGCGTACATTGTGG	0.408													21	146					0	0	1	0	0	A	59911328	G	A	59911328	2	1	124	1	0	0	0	0	0	0	0	1	6342	1132	40	1		1	GCNT3	15	59911328	Silent	SNP	G	TCGA-DU-8163-01A-11D-2253-08	29910324	59911328	42620064	29	21262											
TP53	7157	broad.mit.edu	37	17	7577120	7577120	+	Missense_Mutation	SNP	C	C	A	rs28934576	by1000genomes	TCGA-DU-8163-01A-11D-2253-08	TCGA-DU-8163-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a240da2-0f4a-4b1c-b220-b220ad4d5749	216b595d-09da-487c-b319-fc9748c68efd	g.chr17:7577120C>A	ENST00000420246.2	-	8	950	c.818G>T	c.(817-819)cGt>cTt	p.R273L	TP53_ENST00000413465.2_Intron|TP53_ENST00000269305.4_Missense_Mutation_p.R273L|TP53_ENST00000445888.2_Missense_Mutation_p.R273L|TP53_ENST00000359597.4_Missense_Mutation_p.R273L|TP53_ENST00000455263.2_Missense_Mutation_p.R273L	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	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).		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.R273H(521)|p.R273L(93)|p.R273P(32)|p.0?(8)|p.?(2)|p.R273fs*32(2)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273S(1)|p.E258fs*71(1)|p.R273fs*72(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.R273fs*33(1)|p.E271_R273delEVR(1)|p.V272_K292del21(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	0.542	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)			15	10					1.5739e-10	1.6647e-10	1	1	0	A	7577120	C	A	7577120	3	1	124	1	0	0	0	0	1	0	0	0	16442	536	19	5	468	5	TP53	17	7577120	Missense_Mutation	SNP	C	TCGA-DU-8163-01A-11D-2253-08		7577120	73618090	30	21263											
MED9	55090	broad.mit.edu	37	17	17394705	17394707	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-DU-8163-01A-11D-2253-08	TCGA-DU-8163-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a240da2-0f4a-4b1c-b220-b220ad4d5749	216b595d-09da-487c-b319-fc9748c68efd	g.chr17:17394705_17394707delCAG	ENST00000268711.3	+	2	393_395	c.337_339delCAG	c.(337-339)cagdel	p.Q117del		NM_018019.2	NP_060489.1	Q9NWA0	MED9_HUMAN	mediator complex subunit 9	117					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		protein binding			cervix(1)|endometrium(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						GAGCCCCGAACAGCAGCAGCAGC	0.581													7	175	---	---	---	---						-	17394707	CAG	-	17394705	7	5	124	1	0	1	0	1	0	0	0	0	9504	479	17	0	343	0	MED9	17	17394705	In_Frame_Del	DEL	CAG	TCGA-DU-8163-01A-11D-2253-08	9817585	17394705	63800505	31	21264											
MAPK7	5598	broad.mit.edu	37	17	19283952	19283952	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-8163-01A-11D-2253-08	TCGA-DU-8163-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a240da2-0f4a-4b1c-b220-b220ad4d5749	216b595d-09da-487c-b319-fc9748c68efd	g.chr17:19283952C>G	ENST00000308406.5	+	4	816	c.430C>G	c.(430-432)Ctg>Gtg	p.L144V	MAPK7_ENST00000299612.7_Missense_Mutation_p.L5V|MAPK7_ENST00000571657.1_Intron|MAPK7_ENST00000395602.4_Missense_Mutation_p.L144V|MAPK7_ENST00000395604.3_Missense_Mutation_p.L144V	NM_139033.2	NP_620602.2	Q13164	MK07_HUMAN	mitogen-activated protein kinase 7	144	Necessary for oligomerization (By similarity).|Protein kinase.				cell cycle|cell differentiation|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase activity|protein binding			autonomic_ganglia(1)|central_nervous_system(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(9)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	30	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)					GGAAAGCGACCTGCACCAGAT	0.582													14	91					0	0	1	0	0	G	19283952	C	G	19283952	3	3	124	1	0	0	0	0	1	0	0	0	9332	680	24	4	440	4	MAPK7	17	19283952	Missense_Mutation	SNP	C	TCGA-DU-8163-01A-11D-2253-08	1889247	19283952	61911258	32	21265											
MAPK7	5598	broad.mit.edu	37	17	19284535	19284535	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-8163-01A-11D-2253-08	TCGA-DU-8163-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a240da2-0f4a-4b1c-b220-b220ad4d5749	216b595d-09da-487c-b319-fc9748c68efd	g.chr17:19284535C>T	ENST00000308406.5	+	4	1399	c.1013C>T	c.(1012-1014)gCa>gTa	p.A338V	MAPK7_ENST00000299612.7_Missense_Mutation_p.A199V|MAPK7_ENST00000571657.1_Intron|MAPK7_ENST00000395602.4_Missense_Mutation_p.A338V|MAPK7_ENST00000395604.3_Missense_Mutation_p.A338V	NM_139033.2	NP_620602.2	Q13164	MK07_HUMAN	mitogen-activated protein kinase 7	338	Necessary for oligomerization (By similarity).|Poly-Ala.|Protein kinase.				cell cycle|cell differentiation|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase activity|protein binding			autonomic_ganglia(1)|central_nervous_system(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(9)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	30	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)					CGCATCTCAGCAGCTGCTGCC	0.622													6	72					0	0	1	0	0	T	19284535	C	T	19284535	3	4	124	1	0	0	0	0	1	0	0	0	9332	710	25	2	1023	2	MAPK7	17	19284535	Missense_Mutation	SNP	C	TCGA-DU-8163-01A-11D-2253-08	583	19284535	61910675	33	21266											
MYO18A	399687	broad.mit.edu	37	17	27434129	27434129	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-8163-01A-11D-2253-08	TCGA-DU-8163-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a240da2-0f4a-4b1c-b220-b220ad4d5749	216b595d-09da-487c-b319-fc9748c68efd	g.chr17:27434129C>T	ENST00000527372.1	-	20	3590	c.3410G>A	c.(3409-3411)gGg>gAg	p.G1137E	MYO18A_ENST00000354329.4_Missense_Mutation_p.G1137E|MYO18A_ENST00000531253.1_Missense_Mutation_p.G1137E|MYO18A_ENST00000533112.1_Missense_Mutation_p.G1137E	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	1137	Myosin head-like.				anti-apoptosis|DNA metabolic process	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity			NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			GTAGTTACGCCCGTGTTTCTT	0.612													41	119					0	0	1	0	0	T	27434129	C	T	27434129	3	4	124	1	0	0	0	0	1	0	0	0	10113	623	22	2	2846	2	MYO18A	17	27434129	Missense_Mutation	SNP	C	TCGA-DU-8163-01A-11D-2253-08	8149594	27434129	53761081	34	21267											
ACE	1636	broad.mit.edu	37	17	61557164	61557164	+	Silent	SNP	C	C	T			TCGA-DU-8163-01A-11D-2253-08	TCGA-DU-8163-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a240da2-0f4a-4b1c-b220-b220ad4d5749	216b595d-09da-487c-b319-fc9748c68efd	g.chr17:61557164C>T	ENST00000290866.4	+	4	570	c.546C>T	c.(544-546)taC>taT	p.Y182Y	ACE_ENST00000428043.1_Silent_p.Y182Y|ACE_ENST00000538928.1_Silent_p.Y182Y|ACE_ENST00000584529.1_3'UTR	NM_000789.3	NP_000780.1	P12821	ACE_HUMAN	angiotensin I converting enzyme	182	Peptidase M2 1.				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	CGCGAAGCTACGCCATGCTCC	0.592													7	164					0	0	1	0	0	T	61557164	C	T	61557164	2	4	124	1	0	0	0	0	0	0	0	1	136	547	19	1		1	ACE	17	61557164	Silent	SNP	C	TCGA-DU-8163-01A-11D-2253-08	34123035	61557164	19638046	35	21268											
KCTD1	284252	broad.mit.edu	37	18	24128262	24128264	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-DU-8163-01A-11D-2253-08	TCGA-DU-8163-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a240da2-0f4a-4b1c-b220-b220ad4d5749	216b595d-09da-487c-b319-fc9748c68efd	g.chr18:24128262_24128264delTCC	ENST00000417602.1	-	1	236_238	c.237_239delGGA	c.(235-240)gaggac>gac	p.E79del	KCTD1_ENST00000579973.1_Intron|KCTD1_ENST00000408011.3_Intron|KCTD1_ENST00000317932.7_Intron	NM_001142730.2	NP_001136202.1	Q719H9	KCTD1_HUMAN	potassium channel tetramerization domain containing 1	0	BTB.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|voltage-gated potassium channel complex	transcription corepressor activity|transcription factor binding|voltage-gated potassium channel activity			endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(3)	12	all_cancers(21;0.00191)|Lung NSC(5;0.000698)|all_lung(6;0.0019)|Ovarian(20;0.0848)		Epithelial(2;7.8e-06)|OV - Ovarian serous cystadenocarcinoma(3;9.02e-06)|all cancers(3;3.37e-05)			cccacctccgtcctcctcctcct	0.69													3	5	---	---	---	---						-	24128264	TCC	-	24128262	7	5	124	1	0	1	0	1	0	0	0	0	8140	1667	58	0	2378	0	KCTD1	18	24128262	In_Frame_Del	DEL	TCC	TCGA-DU-8163-01A-11D-2253-08		24128262	53948986	36	21269											
ZNF83	55769	broad.mit.edu	37	19	53116801	53116801	+	Silent	SNP	G	G	A			TCGA-DU-8163-01A-11D-2253-08	TCGA-DU-8163-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a240da2-0f4a-4b1c-b220-b220ad4d5749	216b595d-09da-487c-b319-fc9748c68efd	g.chr19:53116801G>A	ENST00000597597.1	-	2	3270	c.1017C>T	c.(1015-1017)caC>caT	p.H339H	ZNF83_ENST00000600714.1_Intron|ZNF83_ENST00000541777.2_Silent_p.H339H|ZNF83_ENST00000545872.1_Silent_p.H339H|ZNF83_ENST00000391789.4_Silent_p.H311H|ZNF83_ENST00000601257.1_Intron|ZNF83_ENST00000594682.2_3'UTR|ZNF83_ENST00000301096.3_Silent_p.H339H|ZNF83_ENST00000544146.1_Silent_p.H339H|ZNF83_ENST00000536937.1_Silent_p.H339H			P51522	ZNF83_HUMAN	zinc finger protein 83	339						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18				OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244)		TCTCTCCAGTGTGGATTCTCC	0.418													4	115					0	0	1	0	0	A	53116801	G	A	53116801	2	1	124	1	0	0	0	0	0	0	0	1	18230	1368	48	2		2	ZNF83	19	53116801	Silent	SNP	G	TCGA-DU-8163-01A-11D-2253-08		53116801	6012182	37	21270											
NDUFA3	4696	broad.mit.edu	37	19	54611759	54611759	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-8163-01A-11D-2253-08	TCGA-DU-8163-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a240da2-0f4a-4b1c-b220-b220ad4d5749	216b595d-09da-487c-b319-fc9748c68efd	g.chr19:54611759A>G	ENST00000391764.3	+	4	186	c.176A>G	c.(175-177)aAg>aGg	p.K59R	TFPT_ENST00000391757.1_Intron|TFPT_ENST00000391759.1_Intron|TFPT_ENST00000391758.1_Intron			O95167	NDUA3_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 3, 9kDa	60					mitochondrial electron transport, NADH to ubiquinone|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			breast(1)|endometrium(1)	2	all_cancers(19;0.004)|all_epithelial(19;0.00195)|all_lung(19;0.0193)|Lung NSC(19;0.0358)|Breast(117;0.137)|Ovarian(34;0.19)				NADH(DB00157)	GCTGGGGAAAAGGGCCACAGG	0.602													3	73					0	0	1	0	0	G	54611759	A	G	54611759	3	3	124	1	0	0	0	0	1	0	0	0	10312	87	3	3		3	NDUFA3	19	54611759	Missense_Mutation	SNP	A	TCGA-DU-8163-01A-11D-2253-08	1494958	54611759	4517224	38	21271											
HIC2	23119	broad.mit.edu	37	22	21799992	21799992	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-8163-01A-11D-2253-08	TCGA-DU-8163-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a240da2-0f4a-4b1c-b220-b220ad4d5749	216b595d-09da-487c-b319-fc9748c68efd	g.chr22:21799992G>A	ENST00000443632.2	+	2	1180	c.808G>A	c.(808-810)Gca>Aca	p.A270T	HIC2_ENST00000407598.2_Missense_Mutation_p.A270T|HIC2_ENST00000407464.2_Missense_Mutation_p.A270T			Q96JB3	HIC2_HUMAN	hypermethylated in cancer 2	270					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	focal adhesion|nucleus	DNA binding|protein C-terminus binding|zinc ion binding			NS(1)|endometrium(4)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16	Melanoma(16;0.000465)|Ovarian(15;0.00438)|Colorectal(54;0.0968)	Lung SC(17;0.0262)|all_lung(157;0.205)				TCCCGATGACGCAGCCCAGCT	0.672													4	162					0	0	1	0	0	A	21799992	G	A	21799992	3	1	124	1	0	0	0	0	1	0	0	0	7143	1087	38	1	814	1	HIC2	22	21799992	Missense_Mutation	SNP	G	TCGA-DU-8163-01A-11D-2253-08		21799992	29504574	39	21272											
ATRX	546	broad.mit.edu	37	X	76814188	76814188	+	Nonsense_Mutation	SNP	A	A	C			TCGA-DU-8163-01A-11D-2253-08	TCGA-DU-8163-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a240da2-0f4a-4b1c-b220-b220ad4d5749	216b595d-09da-487c-b319-fc9748c68efd	g.chrX:76814188A>C	ENST00000373344.5	-	29	6670	c.6456T>G	c.(6454-6456)taT>taG	p.Y2152*	ATRX_ENST00000395603.3_Nonsense_Mutation_p.Y2114*|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	2152	Helicase C-terminal.				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)	GTCCAAAGCGATAAACTCTGA	0.338			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						7	36					0	0	1	0	0	C	76814188	A	C	76814188	4	2	124	1	0	0	0	0	0	1	0	0	1206	340	12	4	1050	4	ATRX	23	76814188	Nonsense_Mutation	SNP	A	TCGA-DU-8163-01A-11D-2253-08		76814188	78456372	40	21273											
C1orf173	127254	broad.mit.edu	37	1	75038852	75038852	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-8164-01A-11D-2253-08	TCGA-DU-8164-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67139b71-a2d8-4a49-a684-51a4804e294a	79381346-232e-46b8-a3fa-c93df24692ca	g.chr1:75038852C>A	ENST00000326665.5	-	14	2760	c.2542G>T	c.(2542-2544)Gtc>Ttc	p.V848F	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	848	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						AGCCTTCTGACCCCTTCTGCT	0.532													23	27					1.50538e-07	1.74624e-07	1	1	0	A	75038852	C	A	75038852	3	1	125	1	0	0	0	0	1	0	0	0	2027	507	18	5	2054	5	C1orf173	1	75038852	Missense_Mutation	SNP	C	TCGA-DU-8164-01A-11D-2253-08		75038852	174211769	1	21274											
FUBP1	8880	broad.mit.edu	37	1	78430888	78430888	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DU-8164-01A-11D-2253-08	TCGA-DU-8164-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67139b71-a2d8-4a49-a684-51a4804e294a	79381346-232e-46b8-a3fa-c93df24692ca	g.chr1:78430888delA	ENST00000370767.1	-	8	588	c.501delT	c.(499-501)attfs	p.I167fs	FUBP1_ENST00000370768.2_Frame_Shift_Del_p.I167fs|FUBP1_ENST00000436586.2_Frame_Shift_Del_p.I188fs			Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1	167					transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						CTTTTTCAACAATCTGGTCCA	0.393			"F, N"		oligodendroglioma								53	7	---	---	---	---						-	78430888	A	-	78430888	7	5	125	1	0	1	0	1	0	0	0	0	6127	126	5	0	1485	0	FUBP1	1	78430888	Frame_Shift_Del	DEL	A	TCGA-DU-8164-01A-11D-2253-08	3392036	78430888	170819733	2	21275											
NUP210L	91181	broad.mit.edu	37	1	154062058	154062058	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-8164-01A-11D-2253-08	TCGA-DU-8164-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67139b71-a2d8-4a49-a684-51a4804e294a	79381346-232e-46b8-a3fa-c93df24692ca	g.chr1:154062058G>A	ENST00000368559.3	-	16	2271	c.2200C>T	c.(2200-2202)Cga>Tga	p.R734*	NUP210L_ENST00000271854.3_Nonsense_Mutation_p.R734*	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	734						integral to membrane				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			TTTCCAATTCGGAATGTGAGA	0.423													29	53					0	0	1	0	0	A	154062058	G	A	154062058	4	1	125	1	0	0	0	0	0	1	0	0	10809	1124	39	1	3566	1	NUP210L	1	154062058	Nonsense_Mutation	SNP	G	TCGA-DU-8164-01A-11D-2253-08	75631170	154062058	95188563	3	21276											
FCRLA	84824	broad.mit.edu	37	1	161681737	161681737	+	Silent	SNP	G	G	A			TCGA-DU-8164-01A-11D-2253-08	TCGA-DU-8164-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67139b71-a2d8-4a49-a684-51a4804e294a	79381346-232e-46b8-a3fa-c93df24692ca	g.chr1:161681737G>A	ENST00000540926.1	+	5	824	c.531G>A	c.(529-531)gcG>gcA	p.A177A	FCRLA_ENST00000294796.4_Silent_p.A37A|FCRLA_ENST00000540521.1_Silent_p.A54A|FCRLA_ENST00000546024.1_Silent_p.A99A|FCRLA_ENST00000367953.3_Silent_p.A177A|FCRLA_ENST00000350710.3_Intron|FCRLA_ENST00000309691.6_Silent_p.A82A|FCRLA_ENST00000236938.6_Silent_p.A188A|FCRLA_ENST00000367957.2_Silent_p.A48A|FCRLA_ENST00000367950.1_Intron|FCRLA_ENST00000367959.2_Silent_p.A194A|FCRLA_ENST00000367949.2_Intron|FCRLA_ENST00000470841.1_3'UTR|FCRLA_ENST00000349527.4_Intron			Q7L513	FCRLA_HUMAN	Fc receptor-like A	171	Ig-like C2-type 2.				cell differentiation	cytoplasm|extracellular region				breast(1)|kidney(12)|large_intestine(4)|lung(13)|prostate(1)|skin(2)|stomach(1)	34	all_cancers(52;2.55e-15)|all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00301)			TGTTTCCAGCGCCAATTCTCA	0.527													6	293					0	0	1	0	0	A	161681737	G	A	161681737	2	1	125	1	0	0	0	0	0	0	0	1	5833	1074	38	1		1	FCRLA	1	161681737	Silent	SNP	G	TCGA-DU-8164-01A-11D-2253-08	7619679	161681737	87568884	4	21277											
CACNA1E	777	broad.mit.edu	37	1	181549908	181549908	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-8164-01A-11D-2253-08	TCGA-DU-8164-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67139b71-a2d8-4a49-a684-51a4804e294a	79381346-232e-46b8-a3fa-c93df24692ca	g.chr1:181549908A>G	ENST00000526775.1	+	6	1112	c.947A>G	c.(946-948)tAc>tGc	p.Y316C	CACNA1E_ENST00000360108.3_Missense_Mutation_p.Y316C|CACNA1E_ENST00000367573.2_Missense_Mutation_p.Y316C|CACNA1E_ENST00000367567.4_5'UTR|CACNA1E_ENST00000367570.1_Missense_Mutation_p.Y316C|CACNA1E_ENST00000357570.5_Missense_Mutation_p.Y267C|CACNA1E_ENST00000358338.5_Missense_Mutation_p.Y267C	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	316					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						ACTGTGCTGTACAATGTGAGT	0.552													3	36					0	0	1	0	0	G	181549908	A	G	181549908	3	3	125	1	0	0	0	0	1	0	0	0	2560	391	14	3	969	3	CACNA1E	1	181549908	Missense_Mutation	SNP	A	TCGA-DU-8164-01A-11D-2253-08	19868171	181549908	67700713	5	21278											
TTN	7273	broad.mit.edu	37	2	179435704	179435704	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-8164-01A-11D-2253-08	TCGA-DU-8164-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67139b71-a2d8-4a49-a684-51a4804e294a	79381346-232e-46b8-a3fa-c93df24692ca	g.chr2:179435704C>T	ENST00000589042.1	-	326	75379	c.75155G>A	c.(75154-75156)cGt>cAt	p.R25052H	TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R23411H|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R22484H|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R16179H|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R15987H|TTN_ENST00000359218.5_Missense_Mutation_p.R16112H|TTN-AS1_ENST00000592600.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	23411	Fibronectin type-III 82.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTCATCCAACGGCCCTCAGG	0.408													83	123					0	0	1	0	0	T	179435704	C	T	179435704	3	4	125	1	0	0	0	0	1	0	0	0	16797	536	19	1	32972	1	TTN	2	179435704	Missense_Mutation	SNP	C	TCGA-DU-8164-01A-11D-2253-08		179435704	63763669	6	21279											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-DU-8164-01A-11D-2253-08	TCGA-DU-8164-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67139b71-a2d8-4a49-a684-51a4804e294a	79381346-232e-46b8-a3fa-c93df24692ca	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	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								28	54					0	0	1	0	0	T	209113112	C	T	209113112	3	4	125	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-DU-8164-01A-11D-2253-08	29677408	209113112	34086261	7	21280											
SETD2	29072	broad.mit.edu	37	3	47155394	47155394	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-8164-01A-11D-2253-08	TCGA-DU-8164-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67139b71-a2d8-4a49-a684-51a4804e294a	79381346-232e-46b8-a3fa-c93df24692ca	g.chr3:47155394C>G	ENST00000409792.3	-	5	4729	c.4687G>C	c.(4687-4689)Ggc>Cgc	p.G1563R		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	1563	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		GCTCTCAAGCCCCAGCCTTTC	0.428			"N, F, S, Mis"		clear cell renal carcinoma								23	48					0	0	1	0	0	G	47155394	C	G	47155394	3	3	125	1	0	0	0	0	1	0	0	0	14185	623	22	5	3075	5	SETD2	3	47155394	Missense_Mutation	SNP	C	TCGA-DU-8164-01A-11D-2253-08		47155394	150867036	8	21281											
TKT	7086	broad.mit.edu	37	3	53276233	53276233	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-8164-01A-11D-2253-08	TCGA-DU-8164-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67139b71-a2d8-4a49-a684-51a4804e294a	79381346-232e-46b8-a3fa-c93df24692ca	g.chr3:53276233C>T	ENST00000462138.1	-	2	221	c.133G>A	c.(133-135)Gca>Aca	p.A45T	TKT_ENST00000296289.6_5'UTR|TKT_ENST00000423516.1_Missense_Mutation_p.A45T|TKT_ENST00000423525.2_Missense_Mutation_p.A45T			P29401	TKT_HUMAN	transketolase	45					energy reserve metabolic process|xylulose biosynthetic process	cytosol	protein binding|transketolase activity	p.A45T(1)		endometrium(5)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17		Prostate(884;0.0959)		BRCA - Breast invasive adenocarcinoma(193;0.000159)|OV - Ovarian serous cystadenocarcinoma(275;0.000314)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)	Thiamine(DB00152)	ATGATCTCTGCGGCGCTGCAG	0.582													3	79					0	0	1	0	0	T	53276233	C	T	53276233	3	4	125	1	0	0	0	0	1	0	0	0	15994	768	27	1	1790	1	TKT	3	53276233	Missense_Mutation	SNP	C	TCGA-DU-8164-01A-11D-2253-08	6120839	53276233	144746197	9	21282											
PIK3CA	5290	broad.mit.edu	37	3	178928079	178928079	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-8164-01A-11D-2253-08	TCGA-DU-8164-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67139b71-a2d8-4a49-a684-51a4804e294a	79381346-232e-46b8-a3fa-c93df24692ca	g.chr3:178928079G>A	ENST00000263967.3	+	8	1514	c.1357G>A	c.(1357-1359)Gaa>Aaa	p.E453K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	453	C2 PI3K-type.		E -> Q (in cancer; shows an increase in lipid kinase activity; may disrupt the interaction of the C2 PI3K-type domain with the iSH2 region of the p85 regulatory subunit).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E453K(11)|p.E453Q(5)|p.H450fs*9(1)|p.G451_L456>V(1)|p.P449_L455del(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TCATGGATTAGAAGATTTGCT	0.348		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			41	52					0	0	1	0	0	A	178928079	G	A	178928079	3	1	125	1	0	0	0	0	1	0	0	0	11961	943	33	2	1383	2	PIK3CA	3	178928079	Missense_Mutation	SNP	G	TCGA-DU-8164-01A-11D-2253-08	125651846	178928079	19094351	10	21283											
IGJ	3512	broad.mit.edu	37	4	71527853	71527853	+	Silent	SNP	G	G	A			TCGA-DU-8164-01A-11D-2253-08	TCGA-DU-8164-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67139b71-a2d8-4a49-a684-51a4804e294a	79381346-232e-46b8-a3fa-c93df24692ca	g.chr4:71527853G>A	ENST00000254801.4	-	2	313	c.144C>T	c.(142-144)tcC>tcT	p.S48S	IGJ_ENST00000543780.1_Silent_p.S64S|ENAM_ENST00000472903.1_3'UTR	NM_144646.3	NP_653247.1	P01591	IGJ_HUMAN	immunoglobulin J polypeptide, linker protein for immunoglobulin alpha and mu polypeptides	48					immune response	extracellular region	antigen binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7			Lung(101;0.235)			TAGGATCTTCGGAAGAACGGA	0.393													44	70					0	0	1	0	0	A	71527853	G	A	71527853	2	1	125	1	0	0	0	0	0	0	0	1	7636	1103	39	1		1	IGJ	4	71527853	Silent	SNP	G	TCGA-DU-8164-01A-11D-2253-08		71527853	119626423	11	21284											
PDGFC	56034	broad.mit.edu	37	4	157689077	157689077	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-8164-01A-11D-2253-08	TCGA-DU-8164-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67139b71-a2d8-4a49-a684-51a4804e294a	79381346-232e-46b8-a3fa-c93df24692ca	g.chr4:157689077C>T	ENST00000502773.1	-	5	1259	c.769G>A	c.(769-771)Gtg>Atg	p.V257M	PDGFC_ENST00000504672.1_Intron|PDGFC_ENST00000541126.1_Missense_Mutation_p.V94M|PDGFC_ENST00000422544.2_Intron|PDGFC_ENST00000542208.1_Missense_Mutation_p.V102M	NM_016205.2	NP_057289.1	Q9NRA1	PDGFC_HUMAN	platelet derived growth factor C	257					central nervous system development|platelet-derived growth factor receptor signaling pathway|positive regulation of cell division|positive regulation of DNA replication|positive regulation of fibroblast proliferation|vascular endothelial growth factor receptor signaling pathway	endoplasmic reticulum lumen|extracellular space|Golgi membrane|nucleus	cell surface binding|growth factor activity|platelet-derived growth factor receptor binding|protein homodimerization activity			central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.08)|Kidney(143;0.0977)|COAD - Colon adenocarcinoma(41;0.212)		CTTATGGACACTGAGAAGTTA	0.428													15	159					0	0	1	0	0	T	157689077	C	T	157689077	3	4	125	1	0	0	0	0	1	0	0	0	11706	565	20	2	276	2	PDGFC	4	157689077	Missense_Mutation	SNP	C	TCGA-DU-8164-01A-11D-2253-08	86161224	157689077	33465199	12	21285											
ARSK	153642	broad.mit.edu	37	5	94918892	94918892	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-8164-01A-11D-2253-08	TCGA-DU-8164-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67139b71-a2d8-4a49-a684-51a4804e294a	79381346-232e-46b8-a3fa-c93df24692ca	g.chr5:94918892G>T	ENST00000380009.4	+	4	894	c.689G>T	c.(688-690)tGg>tTg	p.W230L		NM_198150.2	NP_937793.1	Q6UWY0	ARSK_HUMAN	arylsulfatase family, member K	230						extracellular region	arylsulfatase activity|metal ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(1)	16		all_cancers(142;3.38e-06)|all_epithelial(76;6.57e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473)		all cancers(79;6.5e-16)		TCTCTTTATTGGCTTGAAAAA	0.313													13	29					2.32078e-09	2.74705e-09	1	1	0	T	94918892	G	T	94918892	3	4	125	1	0	0	0	0	1	0	0	0	995	1357	47	5	703	5	ARSK	5	94918892	Missense_Mutation	SNP	G	TCGA-DU-8164-01A-11D-2253-08		94918892	85996368	13	21286											
HIST1H4B	8366	broad.mit.edu	37	6	26027273	26027273	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-8164-01A-11D-2253-08	TCGA-DU-8164-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67139b71-a2d8-4a49-a684-51a4804e294a	79381346-232e-46b8-a3fa-c93df24692ca	g.chr6:26027273C>T	ENST00000377364.3	-	1	207	c.208G>A	c.(208-210)Gcc>Acc	p.A70T		NM_003544.2	NP_003535.1	P62805	H4_HUMAN	histone cluster 1, H4b	70					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding	p.A70S(1)		large_intestine(4)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	13						TAGGTCACGGCGTCCCGGATC	0.577											OREG0017238	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	56					0	0	1	0	0	T	26027273	C	T	26027273	3	4	125	1	0	0	0	0	1	0	0	0	7207	768	27	1	107	1	HIST1H4B	6	26027273	Missense_Mutation	SNP	C	TCGA-DU-8164-01A-11D-2253-08		26027273	145087794	14	21287											
SCUBE3	222663	broad.mit.edu	37	6	35208200	35208200	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-8164-01A-11D-2253-08	TCGA-DU-8164-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67139b71-a2d8-4a49-a684-51a4804e294a	79381346-232e-46b8-a3fa-c93df24692ca	g.chr6:35208200C>G	ENST00000274938.7	+	9	1002	c.1002C>G	c.(1000-1002)aaC>aaG	p.N334K	SCUBE3_ENST00000394681.1_Missense_Mutation_p.N350K	NM_152753.2	NP_689966.2	Q8IX30	SCUB3_HUMAN	signal peptide, CUB domain, EGF-like 3	334	EGF-like 8; calcium-binding (Potential).				protein heterooligomerization|protein homooligomerization	cell surface|extracellular region	calcium ion binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	37						TATGTGTCAACACACCAGGAA	0.507													8	75					0	0	1	0	0	G	35208200	C	G	35208200	3	3	125	1	0	0	0	0	1	0	0	0	14000	477	17	5	1036	5	SCUBE3	6	35208200	Missense_Mutation	SNP	C	TCGA-DU-8164-01A-11D-2253-08	9180927	35208200	135906867	15	21288											
LRFN2	57497	broad.mit.edu	37	6	40400680	40400680	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-8164-01A-11D-2253-08	TCGA-DU-8164-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67139b71-a2d8-4a49-a684-51a4804e294a	79381346-232e-46b8-a3fa-c93df24692ca	g.chr6:40400680C>T	ENST00000338305.6	-	2	715	c.173G>A	c.(172-174)cGc>cAc	p.R58H		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2	58						cell junction|integral to membrane|postsynaptic membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					GCCGCCCAGGCGCAGCTCCAC	0.602													33	41					0	0	1	0	0	T	40400680	C	T	40400680	3	4	125	1	0	0	0	0	1	0	0	0	8983	768	27	1	2204	1	LRFN2	6	40400680	Missense_Mutation	SNP	C	TCGA-DU-8164-01A-11D-2253-08	5192480	40400680	130714387	16	21289											
MEP1A	4224	broad.mit.edu	37	6	46801256	46801256	+	Silent	SNP	G	G	A			TCGA-DU-8164-01A-11D-2253-08	TCGA-DU-8164-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67139b71-a2d8-4a49-a684-51a4804e294a	79381346-232e-46b8-a3fa-c93df24692ca	g.chr6:46801256G>A	ENST00000230588.4	+	11	1599	c.1590G>A	c.(1588-1590)tcG>tcA	p.S530S		NM_005588.2	NP_005579.2	Q16819	MEP1A_HUMAN	meprin A, alpha (PABA peptide hydrolase)	530	MATH.				digestion|proteolysis	extracellular space|integral to plasma membrane|soluble fraction	metalloendopeptidase activity|zinc ion binding	p.S530S(1)		NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42			Lung(136;0.192)			TCACTACCTCGAAGTCGCACA	0.517													16	155					0	0	1	0	0	A	46801256	G	A	46801256	2	1	125	1	0	0	0	0	0	0	0	1	9525	1045	37	1		1	MEP1A	6	46801256	Silent	SNP	G	TCGA-DU-8164-01A-11D-2253-08	6400576	46801256	124313811	17	21290											
EGFR	1956	broad.mit.edu	37	7	55233043	55233043	+	Missense_Mutation	SNP	G	G	T	rs139236063		TCGA-DU-8164-01A-11D-2253-08	TCGA-DU-8164-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67139b71-a2d8-4a49-a684-51a4804e294a	79381346-232e-46b8-a3fa-c93df24692ca	g.chr7:55233043G>T	ENST00000275493.2	+	15	1970	c.1793G>T	c.(1792-1794)gGa>gTa	p.G598V	EGFR_ENST00000455089.1_Missense_Mutation_p.G553V|EGFR_ENST00000344576.2_Missense_Mutation_p.G598V|EGFR_ENST00000342916.3_Missense_Mutation_p.G598V|EGFR_ENST00000454757.2_Missense_Mutation_p.G545V|EGFR_ENST00000442591.1_Missense_Mutation_p.G598V	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	598					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.G598V(15)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	TGCCCGGCAGGAGTCATGGGA	0.567		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			5	132					0.0293803	0.0309829	1	1	0	T	55233043	G	T	55233043	3	4	125	1	0	0	0	0	1	0	0	0	4993	1174	41	5	1862	5	EGFR	7	55233043	Missense_Mutation	SNP	G	TCGA-DU-8164-01A-11D-2253-08		55233043	103905620	18	21291											
VKORC1L1	154807	broad.mit.edu	37	7	65419069	65419069	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-8164-01A-11D-2253-08	TCGA-DU-8164-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67139b71-a2d8-4a49-a684-51a4804e294a	79381346-232e-46b8-a3fa-c93df24692ca	g.chr7:65419069G>A	ENST00000360768.3	+	3	418	c.313G>A	c.(313-315)Gca>Aca	p.A105T	VKORC1L1_ENST00000434382.2_Missense_Mutation_p.S68N	NM_001284342.1|NM_173517.4	NP_001271271.1|NP_775788.2	Q8N0U8	VKORL_HUMAN	vitamin K epoxide reductase complex, subunit 1-like 1	105						integral to membrane				large_intestine(1)|prostate(1)	2		Lung NSC(55;0.197)			Menadione(DB00170)|Warfarin(DB00682)	AGGCATGACAGCAAGCGCTGT	0.537													3	76					0	0	1	0	0	A	65419069	G	A	65419069	3	1	125	1	0	0	0	0	1	0	0	0	17233	971	34	2	323	2	VKORC1L1	7	65419069	Missense_Mutation	SNP	G	TCGA-DU-8164-01A-11D-2253-08	10186026	65419069	93719594	19	21292											
PTCD1	26024	broad.mit.edu	37	7	99022522	99022522	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-8164-01A-11D-2253-08	TCGA-DU-8164-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67139b71-a2d8-4a49-a684-51a4804e294a	79381346-232e-46b8-a3fa-c93df24692ca	g.chr7:99022522C>A	ENST00000292478.4	-	6	1883	c.1633G>T	c.(1633-1635)Gtc>Ttc	p.V545F	PTCD1_ENST00000555673.1_Missense_Mutation_p.V594F|ATP5J2-PTCD1_ENST00000413834.1_Missense_Mutation_p.V594F	NM_015545.3	NP_056360.2			pentatricopeptide repeat domain 1											endometrium(5)|large_intestine(3)|lung(16)|ovary(2)|skin(1)	27	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)			TTTGCCAGGACCGGCAACAGC	0.597													27	32					1.74197e-06	1.98107e-06	1	1	0	A	99022522	C	A	99022522	3	1	125	1	0	0	0	0	1	0	0	0	12776	507	18	5	481	5	PTCD1	7	99022522	Missense_Mutation	SNP	C	TCGA-DU-8164-01A-11D-2253-08	33603453	99022522	60116141	20	21293											
KIFC2	90990	broad.mit.edu	37	8	145692175	145692176	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-DU-8164-01A-11D-2253-08	TCGA-DU-8164-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67139b71-a2d8-4a49-a684-51a4804e294a	79381346-232e-46b8-a3fa-c93df24692ca	g.chr8:145692175_145692176delAG	ENST00000301332.2	+	2	509_510	c.132_133delAG	c.(130-135)ccagacfs	p.D45fs		NM_145754.2	NP_665697.1	Q96AC6	KIFC2_HUMAN	kinesin family member C2	45					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(7)|ovary(3)|prostate(3)|skin(2)|urinary_tract(1)	19	all_cancers(97;4.61e-11)|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;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)			GCCGGCGCCCAGACCTGCCCGC	0.777													2	4	---	---	---	---						-	145692176	AG	-	145692175	7	5	125	1	0	1	0	1	0	0	0	0	8355	175	7	0	138	0	KIFC2	8	145692175	Frame_Shift_Del	DEL	AG	TCGA-DU-8164-01A-11D-2253-08		145692175	671847	21	21294											
FANCC	2176	broad.mit.edu	37	9	98009714	98009714	+	Splice_Site	SNP	C	C	T			TCGA-DU-8164-01A-11D-2253-08	TCGA-DU-8164-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67139b71-a2d8-4a49-a684-51a4804e294a	79381346-232e-46b8-a3fa-c93df24692ca	g.chr9:98009714C>T	ENST00000289081.3	-	3	504	c.250G>A	c.(250-252)Gat>Aat	p.D84N	FANCC_ENST00000375305.1_Splice_Site_p.D84N	NM_000136.2	NP_000127.2	Q00597	FANCC_HUMAN	Fanconi anemia, complementation group C	84					protein complex assembly	cytosol|nucleoplasm	protein binding			kidney(1)|skin(1)|upper_aerodigestive_tract(1)	3		Acute lymphoblastic leukemia(62;0.138)				TGATTCTTACCATATGCTAAA	0.323			"D, Mis, N, F, S"			"AML, leukemia"		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				20	67					0	0	1	0	0	T	98009714	C	T	98009714	5	4	125	1	0	0	0	0	0	0	1	0	5697	608	21	2	1478	2	FANCC	9	98009714	Splice_Site	SNP	C	TCGA-DU-8164-01A-11D-2253-08		98009714	43203717	22	21295											
NIPSNAP3B	55335	broad.mit.edu	37	9	107531159	107531159	+	Missense_Mutation	SNP	G	G	A	rs141198887	byFrequency	TCGA-DU-8164-01A-11D-2253-08	TCGA-DU-8164-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67139b71-a2d8-4a49-a684-51a4804e294a	79381346-232e-46b8-a3fa-c93df24692ca	g.chr9:107531159G>A	ENST00000374762.3	+	3	358	c.287G>A	c.(286-288)cGa>cAa	p.R96Q	NIPSNAP3B_ENST00000461177.1_3'UTR	NM_018376.2	NP_060846.2	Q9BS92	NPS3B_HUMAN	nipsnap homolog 3B (C. elegans)	96										breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	11						TTTGCTCATCGAGCTGAAGTT	0.343													7	31					0	0	1	0	0	A	107531159	G	A	107531159	3	1	125	1	0	0	0	0	1	0	0	0	10478	1058	37	1	297	1	NIPSNAP3B	9	107531159	Missense_Mutation	SNP	G	TCGA-DU-8164-01A-11D-2253-08	9521445	107531159	33682272	23	21296											
OR4D10	390197	broad.mit.edu	37	11	59245678	59245678	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-8164-01A-11D-2253-08	TCGA-DU-8164-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67139b71-a2d8-4a49-a684-51a4804e294a	79381346-232e-46b8-a3fa-c93df24692ca	g.chr11:59245678C>T	ENST00000530162.1	+	1	833	c.776C>T	c.(775-777)gCc>gTc	p.A259V		NM_001004705.1	NP_001004705.1	Q8NGI6	OR4DA_HUMAN	olfactory receptor, family 4, subfamily D, member 10	259					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TATGTCTATGCCCGGCCCTTC	0.562													14	294					0	0	1	0	0	T	59245678	C	T	59245678	3	4	125	1	0	0	0	0	1	0	0	0	11102	739	26	2	778	2	OR4D10	11	59245678	Missense_Mutation	SNP	C	TCGA-DU-8164-01A-11D-2253-08		59245678	75760838	24	21297											
VEGFB	7423	broad.mit.edu	37	11	64005040	64005040	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-8164-01A-11D-2253-08	TCGA-DU-8164-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67139b71-a2d8-4a49-a684-51a4804e294a	79381346-232e-46b8-a3fa-c93df24692ca	g.chr11:64005040A>C	ENST00000309422.2	+	6	855	c.559A>C	c.(559-561)Acc>Ccc	p.T187P	VEGFB_ENST00000426086.2_Missense_Mutation_p.D153A	NM_001243733.1|NM_003377.4	NP_001230662.1|NP_003368.1	P49765	VEGFB_HUMAN	vascular endothelial growth factor B	187					anti-apoptosis|induction of positive chemotaxis|negative regulation of gene expression|negative regulation of neuron apoptosis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of endothelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of mast cell chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of vascular endothelial growth factor receptor signaling pathway|positive regulation of vascular wound healing|vascular endothelial growth factor receptor signaling pathway	extracellular region|extracellular space|membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity|heparin binding|vascular endothelial growth factor receptor 1 binding			endometrium(2)|large_intestine(2)|prostate(1)|stomach(1)	6						CAGCGCCCTGACCCCCGGACC	0.706													4	9					0	0	1	0	0	C	64005040	A	C	64005040	3	2	125	1	0	0	0	0	1	0	0	0	17211	275	10	5	581	5	VEGFB	11	64005040	Missense_Mutation	SNP	A	TCGA-DU-8164-01A-11D-2253-08	4759362	64005040	71001476	25	21298											
PTPRO	5800	broad.mit.edu	37	12	15654567	15654567	+	Silent	SNP	T	T	C			TCGA-DU-8164-01A-11D-2253-08	TCGA-DU-8164-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67139b71-a2d8-4a49-a684-51a4804e294a	79381346-232e-46b8-a3fa-c93df24692ca	g.chr12:15654567T>C	ENST00000281171.4	+	5	1005	c.675T>C	c.(673-675)ccT>ccC	p.P225P	PTPRO_ENST00000543886.1_Silent_p.P225P|PTPRO_ENST00000348962.2_Silent_p.P225P	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN	protein tyrosine phosphatase, receptor type, O	225						integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				CTTATCCACCTCAAAATATTT	0.348													17	38					0	0	1	0	0	C	15654567	T	C	15654567	2	2	125	1	0	0	0	0	0	0	0	1	12861	1538	54	3		3	PTPRO	12	15654567	Silent	SNP	T	TCGA-DU-8164-01A-11D-2253-08		15654567	118197328	26	21299											
PDZRN4	29951	broad.mit.edu	37	12	41967457	41967457	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-8164-01A-11D-2253-08	TCGA-DU-8164-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67139b71-a2d8-4a49-a684-51a4804e294a	79381346-232e-46b8-a3fa-c93df24692ca	g.chr12:41967457G>T	ENST00000298919.7	+	10	2484	c.2096G>T	c.(2095-2097)cGc>cTc	p.R699L	PDZRN4_ENST00000539469.2_Missense_Mutation_p.R701L|PDZRN4_ENST00000402685.2_Missense_Mutation_p.R959L			Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	959							ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				CAGCGCCGTCGCCGTGAGTTC	0.537													3	60					1	1	1	1	0	T	41967457	G	T	41967457	3	4	125	1	0	0	0	0	1	0	0	0	11757	1087	38	5	2987	5	PDZRN4	12	41967457	Missense_Mutation	SNP	G	TCGA-DU-8164-01A-11D-2253-08	26312890	41967457	91884438	27	21300											
TPP2	7174	broad.mit.edu	37	13	103290661	103290661	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-8164-01A-11D-2253-08	TCGA-DU-8164-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67139b71-a2d8-4a49-a684-51a4804e294a	79381346-232e-46b8-a3fa-c93df24692ca	g.chr13:103290661G>A	ENST00000376052.3	+	15	1925	c.1909G>A	c.(1909-1911)Gca>Aca	p.A637T	TPP2_ENST00000376065.4_Missense_Mutation_p.A637T			P29144	TPP2_HUMAN	tripeptidyl peptidase II	637					proteolysis	cytoplasm|nucleus	aminopeptidase activity|serine-type endopeptidase activity|tripeptidyl-peptidase activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	52	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					AGTTATAGCAGCAAAGTAAGT	0.393													4	107					0	0	1	0	0	A	103290661	G	A	103290661	3	1	125	1	0	0	0	0	1	0	0	0	16473	971	34	2	1967	2	TPP2	13	103290661	Missense_Mutation	SNP	G	TCGA-DU-8164-01A-11D-2253-08		103290661	11879217	28	21301											
RGS6	9628	broad.mit.edu	37	14	72961928	72961928	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-8164-01A-11D-2253-08	TCGA-DU-8164-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67139b71-a2d8-4a49-a684-51a4804e294a	79381346-232e-46b8-a3fa-c93df24692ca	g.chr14:72961928C>A	ENST00000553530.1	+	13	1130	c.923C>A	c.(922-924)cCt>cAt	p.P308H	RGS6_ENST00000402788.2_Missense_Mutation_p.P308H|RGS6_ENST00000555571.1_Missense_Mutation_p.P308H|RGS6_ENST00000407322.4_Missense_Mutation_p.P308H|RGS6_ENST00000406236.4_Missense_Mutation_p.P308H|RGS6_ENST00000404301.2_Missense_Mutation_p.P308H|RGS6_ENST00000556437.1_Missense_Mutation_p.P308H|RGS6_ENST00000343854.6_Intron|RGS6_ENST00000355512.6_Missense_Mutation_p.P308H|RGS6_ENST00000553525.1_Missense_Mutation_p.P308H|RGS6_ENST00000434263.2_Missense_Mutation_p.P239H|RGS6_ENST00000554782.1_Missense_Mutation_p.P169H	NM_001204417.1|NM_001204418.1|NM_001204420.1|NM_001204421.1|NM_001204422.1|NM_004296.5	NP_001191346.1|NP_001191347.1|NP_001191349.1|NP_001191350.1|NP_001191351.1|NP_004287.3	P49758	RGS6_HUMAN	regulator of G-protein signaling 6	308	G protein gamma.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33				all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476)		CCATCCAACCCTTGGATCAGC	0.443													108	143					1.56226e-53	1.88773e-53	1	1	0	A	72961928	C	A	72961928	3	1	125	1	0	0	0	0	1	0	0	0	13359	681	24	4	969	4	RGS6	14	72961928	Missense_Mutation	SNP	C	TCGA-DU-8164-01A-11D-2253-08		72961928	34387612	29	21302											
ATP8B4	79895	broad.mit.edu	37	15	50189590	50189590	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-8164-01A-11D-2253-08	TCGA-DU-8164-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67139b71-a2d8-4a49-a684-51a4804e294a	79381346-232e-46b8-a3fa-c93df24692ca	g.chr15:50189590A>C	ENST00000284509.6	-	23	2737	c.2596T>G	c.(2596-2598)Tat>Gat	p.Y866D	ATP8B4_ENST00000559829.1_Missense_Mutation_p.Y866D	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	866					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		ATTCGGAAATAAGACCACCTT	0.413													92	106					0	0	1	0	0	C	50189590	A	C	50189590	3	2	125	1	0	0	0	0	1	0	0	0	1195	362	13	5	1006	5	ATP8B4	15	50189590	Missense_Mutation	SNP	A	TCGA-DU-8164-01A-11D-2253-08		50189590	52341802	30	21303											
ZNF688	146542	broad.mit.edu	37	16	30581515	30581515	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-8164-01A-11D-2253-08	TCGA-DU-8164-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67139b71-a2d8-4a49-a684-51a4804e294a	79381346-232e-46b8-a3fa-c93df24692ca	g.chr16:30581515A>T	ENST00000223459.6	-	3	1657	c.553T>A	c.(553-555)Tgc>Agc	p.C185S	ZNF688_ENST00000395219.1_Missense_Mutation_p.C171S	NM_145271.3	NP_660314.1	P0C7X2	ZN688_HUMAN	zinc finger protein 688	185					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(2)|lung(2)|ovary(1)	8						CAGTCCGTGCACACGTGGCGC	0.687													10	13					0	0	1	0	0	T	30581515	A	T	30581515	3	4	125	1	0	0	0	0	1	0	0	0	18149	159	6	5	281	5	ZNF688	16	30581515	Missense_Mutation	SNP	A	TCGA-DU-8164-01A-11D-2253-08		30581515	59773238	31	21304											
HOXB8	3218	broad.mit.edu	37	17	46691864	46691864	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-8164-01A-11D-2253-08	TCGA-DU-8164-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67139b71-a2d8-4a49-a684-51a4804e294a	79381346-232e-46b8-a3fa-c93df24692ca	g.chr17:46691864G>A	ENST00000239144.4	-	1	437	c.203C>T	c.(202-204)cCc>cTc	p.P68L	HOXB7_ENST00000567101.2_Intron|HOXB8_ENST00000576562.1_Missense_Mutation_p.P68L	NM_024016.3	NP_076921.1	P17481	HXB8_HUMAN	homeobox B8	68						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|lung(8)|urinary_tract(2)	11						CTGCTGGTAGGGAGCCGTGGA	0.672													23	28					0	0	1	0	0	A	46691864	G	A	46691864	3	1	125	1	0	0	0	0	1	0	0	0	7348	1232	43	2	536	2	HOXB8	17	46691864	Missense_Mutation	SNP	G	TCGA-DU-8164-01A-11D-2253-08		46691864	34503346	32	21305											
MRC2	9902	broad.mit.edu	37	17	60757562	60757564	+	In_Frame_Del	DEL	ACG	ACG	-			TCGA-DU-8164-01A-11D-2253-08	TCGA-DU-8164-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67139b71-a2d8-4a49-a684-51a4804e294a	79381346-232e-46b8-a3fa-c93df24692ca	g.chr17:60757562_60757564delACG	ENST00000303375.5	+	15	2732_2734	c.2330_2332delACG	c.(2329-2334)cacgac>cac	p.D781del		NM_006039.4	NP_006030.2	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2	781	C-type lectin 4.				endocytosis	integral to membrane	receptor activity|sugar binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						CGGAGCCGGCACGACGACGACGA	0.645													7	104	---	---	---	---						-	60757564	ACG	-	60757562	7	5	125	1	0	1	0	1	0	0	0	0	9807	159	6	0	2388	0	MRC2	17	60757562	In_Frame_Del	DEL	ACG	TCGA-DU-8164-01A-11D-2253-08	14065698	60757562	20437648	33	21306											
DCC	1630	broad.mit.edu	37	18	50731664	50731664	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-8164-01A-11D-2253-08	TCGA-DU-8164-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67139b71-a2d8-4a49-a684-51a4804e294a	79381346-232e-46b8-a3fa-c93df24692ca	g.chr18:50731664C>T	ENST00000442544.2	+	10	2268	c.1652C>T	c.(1651-1653)cCt>cTt	p.P551L	DCC_ENST00000581580.1_Missense_Mutation_p.P206L|DCC_ENST00000412726.1_Missense_Mutation_p.P399L	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	551	Fibronectin type-III 2.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		TGGGAACCCCCTGCCTATGCA	0.458													59	148					0	0	1	0	0	T	50731664	C	T	50731664	3	4	125	1	0	0	0	0	1	0	0	0	4305	681	24	2	1690	2	DCC	18	50731664	Missense_Mutation	SNP	C	TCGA-DU-8164-01A-11D-2253-08		50731664	27345584	34	21307											
FEM1A	55527	broad.mit.edu	37	19	4792851	4792851	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-8164-01A-11D-2253-08	TCGA-DU-8164-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67139b71-a2d8-4a49-a684-51a4804e294a	79381346-232e-46b8-a3fa-c93df24692ca	g.chr19:4792851C>T	ENST00000269856.3	+	1	1124	c.985C>T	c.(985-987)Cgt>Tgt	p.R329C	AC005523.2_ENST00000601192.1_RNA	NM_018708.2	NP_061178.1	Q9BSK4	FEM1A_HUMAN	fem-1 homolog a (C. elegans)	329					regulation of ubiquitin-protein ligase activity	cytoplasm	binding|ubiquitin-protein ligase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	17		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)		CATGGAGCTGCGTCACCAGGG	0.607													22	33					0	0	1	0	0	T	4792851	C	T	4792851	3	4	125	1	0	0	0	0	1	0	0	0	5842	768	27	1	987	1	FEM1A	19	4792851	Missense_Mutation	SNP	C	TCGA-DU-8164-01A-11D-2253-08		4792851	54336132	35	21308											
RFX1	5989	broad.mit.edu	37	19	14083696	14083696	+	Silent	SNP	G	G	C			TCGA-DU-8164-01A-11D-2253-08	TCGA-DU-8164-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67139b71-a2d8-4a49-a684-51a4804e294a	79381346-232e-46b8-a3fa-c93df24692ca	g.chr19:14083696G>C	ENST00000254325.4	-	9	1407	c.1173C>G	c.(1171-1173)ggC>ggG	p.G391G		NM_002918.4	NP_002909.4	P22670	RFX1_HUMAN	regulatory factor X, 1 (influences HLA class II expression)	391	Gly-rich.				immune response	nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(19;6.67e-23)			cgcctcccccgccgccgccgc	0.726													2	9					0	0	1	0	0	C	14083696	G	C	14083696	2	2	125	1	0	0	0	0	0	0	0	1	13314	1074	38	5		5	RFX1	19	14083696	Silent	SNP	G	TCGA-DU-8164-01A-11D-2253-08	9290845	14083696	45045287	36	21309											
ELFN2	114794	broad.mit.edu	37	22	37770047	37770047	+	Missense_Mutation	SNP	C	C	T	rs143903281		TCGA-DU-8164-01A-11D-2253-08	TCGA-DU-8164-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67139b71-a2d8-4a49-a684-51a4804e294a	79381346-232e-46b8-a3fa-c93df24692ca	g.chr22:37770047C>T	ENST00000402918.2	-	3	2313	c.1528G>A	c.(1528-1530)Ggc>Agc	p.G510S	RP1-63G5.5_ENST00000430883.1_RNA	NM_052906.3	NP_443138.2	Q5R3F8	LRFN6_HUMAN	extracellular leucine-rich repeat and fibronectin type III domain containing 2							cell surface|integral to membrane				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	35	Melanoma(58;0.0574)					CCGTCCCCGCCGGCGCCTGTG	0.662													30	33					0	0	1	0	0	T	37770047	C	T	37770047	3	4	125	1	0	0	0	0	1	0	0	0	5086	652	23	1	938	1	ELFN2	22	37770047	Missense_Mutation	SNP	C	TCGA-DU-8164-01A-11D-2253-08		37770047	13534519	37	21310											
EPHA10	284656	broad.mit.edu	37	1	38227727	38227727	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr1:38227727T>C	ENST00000373048.4	-	3	199	c.200A>G	c.(199-201)cAc>cGc	p.H67R	EPHA10_ENST00000427468.2_Missense_Mutation_p.H67R|EPHA10_ENST00000319637.6_Missense_Mutation_p.H67R	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN	EPH receptor A10	67						extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity			NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GGGACGGTCGTGTTCATCCAC	0.627													35	92					0	0	1	0	0	C	38227727	T	C	38227727	3	2	126	1	0	0	0	0	1	0	0	0	5194	1696	59	3	2924	3	EPHA10	1	38227727	Missense_Mutation	SNP	T	TCGA-DU-8165-01A-11D-2253-08		38227727	211022894	1	21311											
LPHN2	23266	broad.mit.edu	37	1	82418675	82418675	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr1:82418675delA	ENST00000370728.1	+	12	2432	c.1787delA	c.(1786-1788)caafs	p.Q596fs	LPHN2_ENST00000370730.1_Frame_Shift_Del_p.Q596fs|LPHN2_ENST00000370717.2_Frame_Shift_Del_p.Q596fs|LPHN2_ENST00000370715.1_Intron|LPHN2_ENST00000359929.3_Intron|LPHN2_ENST00000370721.1_Intron|LPHN2_ENST00000370713.1_Intron|LPHN2_ENST00000394879.1_Intron|LPHN2_ENST00000370725.1_Frame_Shift_Del_p.Q596fs|LPHN2_ENST00000370727.1_Frame_Shift_Del_p.Q596fs|LPHN2_ENST00000335786.5_Frame_Shift_Del_p.Q596fs|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370723.1_Intron|LPHN2_ENST00000271029.4_Frame_Shift_Del_p.Q596fs|LPHN2_ENST00000319517.6_Intron			O95490	LPHN2_HUMAN	latrophilin 2	596					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		TAAAAGCTCCAAAAACGAGAG	0.398													21	53	---	---	---	---						-	82418675	A	-	82418675	7	5	126	1	0	1	0	1	0	0	0	0	8961	145	5	0		0	LPHN2	1	82418675	Frame_Shift_Del	DEL	A	TCGA-DU-8165-01A-11D-2253-08	44190948	82418675	166831946	2	21312											
RPTN	126638	broad.mit.edu	37	1	152129014	152129014	+	Silent	SNP	T	T	C			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr1:152129014T>C	ENST00000316073.3	-	3	625	c.561A>G	c.(559-561)agA>agG	p.R187R		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	187	Gln-rich.					proteinaceous extracellular matrix	calcium ion binding			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						CCTTGTCTTGTCTCTCAGACT	0.458													16	500					0	0	1	0	0	C	152129014	T	C	152129014	2	2	126	1	0	0	0	0	0	0	0	1	13716	1664	58	3		3	RPTN	1	152129014	Silent	SNP	T	TCGA-DU-8165-01A-11D-2253-08	69710339	152129014	97121607	3	21313											
SLC39A1	27173	broad.mit.edu	37	1	153934816	153934826	+	Splice_Site	DEL	CTGGCGGGAAG	CTGGCGGGAAG	-	rs61755890	byFrequency	TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr1:153934816_153934826delCTGGCGGGAAG	ENST00000368623.3	-	2	947_957	c.188_198delCTTCCCGCCAG	c.(187-198)gcttcccgccag>g	p.ASRQ63fs	SLC39A1_ENST00000310483.6_Splice_Site_p.ASRQ63fs|SLC39A1_ENST00000368621.1_Splice_Site_p.ASRQ63fs|SLC39A1_ENST00000537590.1_Intron|SLC39A1_ENST00000356205.4_Splice_Site_p.ASRQ63fs|SLC39A1_ENST00000461071.1_5'UTR			Q9NY26	S39A1_HUMAN	solute carrier family 39 (zinc transporter), member 1	63						endoplasmic reticulum membrane|integral to membrane|membrane fraction|plasma membrane	zinc ion transmembrane transporter activity			kidney(2)|large_intestine(2)|lung(7)|urinary_tract(1)	12	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)	Colorectal(1306;0.019)		TCAGGGCTTTCTGGCGGGAAGCTGGGTAGGG	0.597													15	121	---	---	---	---						-	153934826	CTGGCGGGAAG	-	153934816	8	5	126	1	0	1	0	1	0	0	1	0	14667	912	32	0	784	0	SLC39A1	1	153934816	Splice_Site	DEL	CTGGCGGGAAG	TCGA-DU-8165-01A-11D-2253-08	1805802	153934816	95315805	4	21314											
TDRD10	126668	broad.mit.edu	37	1	154516509	154516509	+	Missense_Mutation	SNP	G	G	A	rs143192137	byFrequency	TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr1:154516509G>A	ENST00000368482.4	+	9	1412	c.574G>A	c.(574-576)Gtc>Atc	p.V192I	TDRD10_ENST00000368480.3_Missense_Mutation_p.V192I|TDRD10_ENST00000479937.1_3'UTR	NM_001098475.1|NM_182499.3	NP_001091945.1|NP_872305.3	Q5VZ19	TDR10_HUMAN	tudor domain containing 10	192							nucleotide binding|RNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			CATCCATAGCGTCCGTGGGGA	0.612													47	126					0	0	1	0	0	A	154516509	G	A	154516509	3	1	126	1	0	0	0	0	1	0	0	0	15790	1145	40	1	604	1	TDRD10	1	154516509	Missense_Mutation	SNP	G	TCGA-DU-8165-01A-11D-2253-08	581693	154516509	94734112	5	21315											
KIF26B	55083	broad.mit.edu	37	1	245862231	245862231	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr1:245862231C>T	ENST00000366518.4	+	11	5031	c.4927C>T	c.(4927-4929)Cgc>Tgc	p.R1643C	KIF26B_ENST00000407071.2_Missense_Mutation_p.R2024C			Q2KJY2	KI26B_HUMAN	kinesin family member 26B	2024					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			TCTGGAACACCGCCAGCAGAG	0.567													18	49					0	0	1	0	0	T	245862231	C	T	245862231	3	4	126	1	0	0	0	0	1	0	0	0	8337	652	23	1	6124	1	KIF26B	1	245862231	Missense_Mutation	SNP	C	TCGA-DU-8165-01A-11D-2253-08	91345722	245862231	3388390	6	21316											
OR11L1	391189	broad.mit.edu	37	1	248004441	248004441	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr1:248004441C>A	ENST00000355784.2	-	1	813	c.758G>T	c.(757-759)gGg>gTg	p.G253V		NM_001001959.1	NP_001001959.1	Q8NGX0	O11L1_HUMAN	olfactory receptor, family 11, subfamily L, member 1	253					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GATCATGGTCCCGTAGTAGAG	0.498													28	74					2.28855e-06	2.40899e-06	1	1	0	A	248004441	C	A	248004441	3	1	126	1	0	0	0	0	1	0	0	0	10978	623	22	5	214	5	OR11L1	1	248004441	Missense_Mutation	SNP	C	TCGA-DU-8165-01A-11D-2253-08	2142210	248004441	1246180	7	21317											
C2orf40	84417	broad.mit.edu	37	2	106690448	106690448	+	Silent	SNP	C	C	G			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr2:106690448C>G	ENST00000409944.1	+	4	357	c.126C>G	c.(124-126)ccC>ccG	p.P42P	C2orf40_ENST00000238044.3_Silent_p.P78P|C2orf40_ENST00000489174.1_3'UTR			Q9H1Z8	AUGN_HUMAN	chromosome 2 open reading frame 40	78						extracellular region|transport vesicle				lung(7)|urinary_tract(1)	8						GGACTCGGCCCGAGGTGCAGC	0.577													34	79					0	0	1	0	0	G	106690448	C	G	106690448	2	3	126	1	0	0	0	0	0	0	0	1	2179	639	23	5		5	C2orf40	2	106690448	Silent	SNP	C	TCGA-DU-8165-01A-11D-2253-08		106690448	136508925	8	21318											
SCN1A	6323	broad.mit.edu	37	2	166901577	166901577	+	Silent	SNP	T	T	C			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr2:166901577T>C	ENST00000423058.2	-	10	1655	c.1638A>G	c.(1636-1638)gaA>gaG	p.E546E	SCN1A_ENST00000303395.4_Silent_p.E546E|AC010127.3_ENST00000595647.1_RNA|AC010127.3_ENST00000595268.1_RNA|SCN1A_ENST00000375405.3_Silent_p.E546E|AC010127.3_ENST00000599041.1_RNA|SCN1A_ENST00000409050.1_Silent_p.E546E	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	546						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	AGTACCTCTTTTCATATGTCA	0.428													26	51					0	0	1	0	0	C	166901577	T	C	166901577	2	2	126	1	0	0	0	0	0	0	0	1	13968	1838	64	3		3	SCN1A	2	166901577	Silent	SNP	T	TCGA-DU-8165-01A-11D-2253-08	60211129	166901577	76297796	9	21319											
SCN7A	6332	broad.mit.edu	37	2	167288988	167288988	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr2:167288988C>T	ENST00000409855.1	-	15	2558	c.2432G>A	c.(2431-2433)aGc>aAc	p.S811N		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	811					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						TGTGCCACTGCTTTTTTCCTT	0.388													44	112					0	0	1	0	0	T	167288988	C	T	167288988	3	4	126	1	0	0	0	0	1	0	0	0	13977	797	28	2	2660	2	SCN7A	2	167288988	Missense_Mutation	SNP	C	TCGA-DU-8165-01A-11D-2253-08	387411	167288988	75910385	10	21320											
LRP2	4036	broad.mit.edu	37	2	170060647	170060647	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr2:170060647C>T	ENST00000263816.3	-	42	8135	c.7850G>A	c.(7849-7851)cGa>cAa	p.R2617Q		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2617					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	p.R2617L(1)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	TTTGTTAGCTCGGTAAATTCT	0.443													101	180					0	0	1	0	0	T	170060647	C	T	170060647	3	4	126	1	0	0	0	0	1	0	0	0	9001	884	31	1	6269	1	LRP2	2	170060647	Missense_Mutation	SNP	C	TCGA-DU-8165-01A-11D-2253-08	2771659	170060647	73138726	11	21321											
LRP2	4036	broad.mit.edu	37	2	170115593	170115593	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr2:170115593G>A	ENST00000263816.3	-	17	2740	c.2455C>T	c.(2455-2457)Cgc>Tgc	p.R819C	LRP2_ENST00000443831.1_Missense_Mutation_p.R682C	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	819					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	p.R819C(1)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	ACTACTGTGCGTCTCGTTTTA	0.398													31	122					0	0	1	0	0	A	170115593	G	A	170115593	3	1	126	1	0	0	0	0	1	0	0	0	9001	1145	40	1	11764	1	LRP2	2	170115593	Missense_Mutation	SNP	G	TCGA-DU-8165-01A-11D-2253-08	54946	170115593	73083780	12	21322											
COL3A1	1281	broad.mit.edu	37	2	189850395	189850395	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr2:189850395C>G	ENST00000304636.3	+	4	508	c.338C>G	c.(337-339)cCt>cGt	p.P113R	COL3A1_ENST00000317840.5_Missense_Mutation_p.P113R	NM_000090.3	NP_000081	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	113					axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	TTTTAGGGCCCTCCTGGTATT	0.413													9	19					0	0	1	0	0	G	189850395	C	G	189850395	3	3	126	1	0	0	0	0	1	0	0	0	3711	681	24	4	352	4	COL3A1	2	189850395	Missense_Mutation	SNP	C	TCGA-DU-8165-01A-11D-2253-08	19734802	189850395	53348978	13	21323											
MARS2	92935	broad.mit.edu	37	2	198570143	198570143	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr2:198570143C>T	ENST00000282276.6	+	1	57	c.14C>T	c.(13-15)tCc>tTc	p.S5F	AC011997.1_ENST00000409845.1_Intron	NM_138395.3	NP_612404.1	Q96GW9	SYMM_HUMAN	methionyl-tRNA synthetase 2, mitochondrial	5					methionyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|methionine-tRNA ligase activity			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	22					L-Methionine(DB00134)	CTGCGAACGTCCGTCCTCCGC	0.682													8	47					0	0	1	0	0	T	198570143	C	T	198570143	3	4	126	1	0	0	0	0	1	0	0	0	9367	855	30	2	16	2	MARS2	2	198570143	Missense_Mutation	SNP	C	TCGA-DU-8165-01A-11D-2253-08	8719748	198570143	44629230	14	21324											
DCLK3	85443	broad.mit.edu	37	3	36779214	36779214	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr3:36779214G>C	ENST00000416516.2	-	2	1427	c.937C>G	c.(937-939)Ctc>Gtc	p.L313V		NM_033403.1	NP_208382.1	Q9C098	DCLK3_HUMAN	doublecortin-like kinase 3	313						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	48						TCATCTCTGAGAGTCATCCTT	0.582													59	71					0	0	1	0	0	C	36779214	G	C	36779214	3	2	126	1	0	0	0	0	1	0	0	0	4316	942	33	4	1025	4	DCLK3	3	36779214	Missense_Mutation	SNP	G	TCGA-DU-8165-01A-11D-2253-08		36779214	161243216	15	21325											
GNL3	26354	broad.mit.edu	37	3	52727062	52727062	+	Splice_Site	SNP	G	G	A			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr3:52727062G>A	ENST00000394799.2	+	10	1218	c.1008G>A	c.(1006-1008)caG>caA	p.Q336Q	GNL3_ENST00000418458.1_Splice_Site_p.Q348Q	NM_206825.1	NP_996561.1	Q9BVP2	GNL3_HUMAN	guanine nucleotide binding protein-like 3 (nucleolar)	348	G.|Intermediate (By similarity).				regulation of cell proliferation	nucleolus	GTP binding|protein binding			breast(4)|endometrium(3)|large_intestine(3)|lung(2)	12				BRCA - Breast invasive adenocarcinoma(193;6.75e-05)|Kidney(197;0.000611)|KIRC - Kidney renal clear cell carcinoma(197;0.000773)|OV - Ovarian serous cystadenocarcinoma(275;0.048)		ATGCTCGACAGGTAAAAGGAC	0.463													3	33					0	0	1	0	0	A	52727062	G	A	52727062	5	1	126	1	0	0	0	0	0	0	1	0	6579	1014	35	2	1082	2	GNL3	3	52727062	Splice_Site	SNP	G	TCGA-DU-8165-01A-11D-2253-08	15947848	52727062	145295368	16	21326											
SLC7A14	57709	broad.mit.edu	37	3	170219060	170219060	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr3:170219060C>A	ENST00000231706.5	-	3	694	c.379G>T	c.(379-381)Gtt>Ttt	p.V127F	CLDN11_ENST00000486975.1_Intron|CLDN11_ENST00000451576.1_Intron	NM_020949.2	NP_066000.2	Q8TBB6	S7A14_HUMAN	solute carrier family 7, member 14							integral to membrane	amino acid transmembrane transporter activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4)	53	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)			AATTCCCCAACAGTGACATAG	0.527													6	42					0.0293803	0.0299799	1	1	0	A	170219060	C	A	170219060	3	1	126	1	0	0	0	0	1	0	0	0	14751	478	17	5	1960	5	SLC7A14	3	170219060	Missense_Mutation	SNP	C	TCGA-DU-8165-01A-11D-2253-08	117491998	170219060	27803370	17	21327											
PIK3CA	5290	broad.mit.edu	37	3	178917478	178917478	+	Splice_Site	SNP	G	G	A			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr3:178917478G>A	ENST00000263967.3	+	3	510	c.353G>A	c.(352-354)gGt>gAt	p.G118D		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	118					epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.G118D(26)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TTTATTAAAGGTTTTGCTATC	0.338		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			17	36					0	0	1	0	0	A	178917478	G	A	178917478	5	1	126	1	0	0	0	0	0	0	1	0	11961	1275	44	2	359	2	PIK3CA	3	178917478	Splice_Site	SNP	G	TCGA-DU-8165-01A-11D-2253-08	8698418	178917478	19104952	18	21328											
SLIT2	9353	broad.mit.edu	37	4	20597371	20597371	+	Silent	SNP	C	C	T			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr4:20597371C>T	ENST00000504154.1	+	31	3486	c.3234C>T	c.(3232-3234)gaC>gaT	p.D1078D	SLIT2_ENST00000503823.1_Silent_p.D1070D|SLIT2_ENST00000273739.5_Silent_p.D1091D|SLIT2_ENST00000503837.1_Silent_p.D1074D	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	1078	EGF-like 5; calcium-binding (Potential).				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding	p.D1078D(1)		NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						TCGATTTTGACGACTGCCAAG	0.468													76	83					0	0	1	0	0	T	20597371	C	T	20597371	2	4	126	1	0	0	0	0	0	0	0	1	14794	535	19	1		1	SLIT2	4	20597371	Silent	SNP	C	TCGA-DU-8165-01A-11D-2253-08		20597371	170556905	19	21329											
DCHS2	54798	broad.mit.edu	37	4	155254316	155254316	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr4:155254316C>A	ENST00000357232.4	-	9	1546	c.1547G>T	c.(1546-1548)cGg>cTg	p.R516L	DCHS2_ENST00000507542.1_5'UTR|DCHS2_ENST00000339452.1_Missense_Mutation_p.R1015L	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2		Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		GATGGAGTACCGGATGAGTCC	0.647													13	29					7.03913e-09	7.99901e-09	1	1	0	A	155254316	C	A	155254316	3	1	126	1	0	0	0	0	1	0	0	0	4311	652	23	5	7367	5	DCHS2	4	155254316	Missense_Mutation	SNP	C	TCGA-DU-8165-01A-11D-2253-08	134656945	155254316	35899960	20	21330											
CCDC110	256309	broad.mit.edu	37	4	186380589	186380589	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr4:186380589G>C	ENST00000307588.3	-	6	1227	c.1152C>G	c.(1150-1152)ttC>ttG	p.F384L	CCDC110_ENST00000393540.3_Missense_Mutation_p.F347L|CCDC110_ENST00000510617.1_Missense_Mutation_p.F384L	NM_152775.3	NP_689988.1	Q8TBZ0	CC110_HUMAN	coiled-coil domain containing 110	384						nucleus				NS(1)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(9)	30		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749)		OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164)		TTTGGTCGAGGAAGGACAGTG	0.308													25	88					0	0	1	0	0	C	186380589	G	C	186380589	3	2	126	1	0	0	0	0	1	0	0	0	2765	1165	41	5	1357	5	CCDC110	4	186380589	Missense_Mutation	SNP	G	TCGA-DU-8165-01A-11D-2253-08	31126273	186380589	4773687	21	21331											
EGFLAM	133584	broad.mit.edu	37	5	38464022	38464022	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr5:38464022T>G	ENST00000322350.5	+	22	3310	c.2964T>G	c.(2962-2964)gaT>gaG	p.D988E	EGFLAM_ENST00000397210.3_Missense_Mutation_p.D131E|EGFLAM_ENST00000354891.3_Missense_Mutation_p.D996E|EGFLAM_ENST00000336740.6_Missense_Mutation_p.D754E|EGFLAM_ENST00000514476.1_Missense_Mutation_p.D131E|EGFLAM_ENST00000506135.1_Missense_Mutation_p.D131E|CTD-2263F21.1_ENST00000510469.1_RNA|EGFLAM_ENST00000397202.2_Missense_Mutation_p.D354E	NM_152403.3	NP_689616.2	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	996	Laminin G-like 3.					cell junction|proteinaceous extracellular matrix|synapse				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					TGTCCACCGATTACCACATTT	0.517													3	58					0	0	1	0	0	G	38464022	T	G	38464022	3	3	126	1	0	0	0	0	1	0	0	0	4992	1490	52	4	3064	4	EGFLAM	5	38464022	Missense_Mutation	SNP	T	TCGA-DU-8165-01A-11D-2253-08		38464022	142451238	22	21332											
ITGA2	3673	broad.mit.edu	37	5	52344295	52344295	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr5:52344295C>A	ENST00000296585.5	+	5	633	c.490C>A	c.(490-492)Cct>Act	p.P164T		NM_002203.3	NP_002194.2	P17301	ITA2_HUMAN	integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	164					axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis	integrin complex	collagen binding|identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)				CAGCTTCTCACCTGCAACTCA	0.478													41	39					1.00776e-21	1.25969e-21	1	1	0	A	52344295	C	A	52344295	3	1	126	1	0	0	0	0	1	0	0	0	7919	507	18	5	508	5	ITGA2	5	52344295	Missense_Mutation	SNP	C	TCGA-DU-8165-01A-11D-2253-08	13880273	52344295	128570965	23	21333											
PCDHA7	56141	broad.mit.edu	37	5	140214298	140214298	+	Silent	SNP	G	G	T	rs61730625		TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr5:140214298G>T	ENST00000525929.1	+	1	330	c.330G>T	c.(328-330)gtG>gtT	p.V110V	PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA7_ENST00000378125.3_Silent_p.V110V|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron	NM_018910.2	NP_061733.1														NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGTGATCGTGGAAAGGCCGC	0.557													178	340					1.79791e-67	2.33495e-67	1	1	0	T	140214298	G	T	140214298	2	4	126	1	0	0	0	0	0	0	0	1	11576	1335	47	5		5	PCDHA7	5	140214298	Silent	SNP	G	TCGA-DU-8165-01A-11D-2253-08	87870003	140214298	40700962	24	21334											
NR3C1	2908	broad.mit.edu	37	5	142779650	142779650	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr5:142779650T>C	ENST00000343796.2	-	2	1748	c.755A>G	c.(754-756)gAc>gGc	p.D252G	NR3C1_ENST00000394466.2_Missense_Mutation_p.D252G|NR3C1_ENST00000424646.2_Missense_Mutation_p.D252G|NR3C1_ENST00000394464.2_Missense_Mutation_p.D252G|NR3C1_ENST00000416954.2_Intron|NR3C1_ENST00000504572.1_Missense_Mutation_p.D252G|NR3C1_ENST00000415690.2_Missense_Mutation_p.D252G|NR3C1_ENST00000231509.3_Missense_Mutation_p.D252G|NR3C1_ENST00000503201.1_Missense_Mutation_p.D252G	NM_001018074.1|NM_001018075.1|NM_001018077.1	NP_001018084.1|NP_001018085.1|NP_001018087.1	P04150	GCR_HUMAN	nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)	252	Modulating.				chromatin modification|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus|transcription from RNA polymerase II promoter	mitochondrial matrix|nucleoplasm	glucocorticoid receptor activity|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	35		Acute lymphoblastic leukemia(2;3.2e-05)|all_hematologic(2;0.000361)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)		Amcinonide(DB00288)|Betamethasone(DB00443)|Budesonide(DB01222)|Dexamethasone(DB01234)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluticasone Propionate(DB00588)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Loteprednol Etabonate(DB00873)|Methylprednisolone(DB00959)|Mifepristone(DB00834)|Mometasone(DB00764)|Prednisone(DB00635)	GGGTTTAGTGTCCGGTAAAAT	0.413													6	94					0	0	1	0	0	C	142779650	T	C	142779650	3	2	126	1	0	0	0	0	1	0	0	0	10678	1667	58	3	1665	3	NR3C1	5	142779650	Missense_Mutation	SNP	T	TCGA-DU-8165-01A-11D-2253-08	2565352	142779650	38135610	25	21335											
SH3RF2	153769	broad.mit.edu	37	5	145393444	145393444	+	Silent	SNP	G	G	A			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr5:145393444G>A	ENST00000511217.1	+	4	931	c.879G>A	c.(877-879)agG>agA	p.R293R	SH3RF2_ENST00000359120.4_Silent_p.R293R			Q8TEC5	SH3R2_HUMAN	SH3 domain containing ring finger 2	293							ligase activity|protein phosphatase 1 binding|zinc ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGTCCAGGAGGAAGGTGCCTG	0.577													14	73					0	0	1	0	0	A	145393444	G	A	145393444	2	1	126	1	0	0	0	0	0	0	0	1	14314	1165	41	2		2	SH3RF2	5	145393444	Silent	SNP	G	TCGA-DU-8165-01A-11D-2253-08	2613794	145393444	35521816	26	21336											
TIGD6	81789	broad.mit.edu	37	5	149375645	149375645	+	Silent	SNP	G	G	T			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr5:149375645G>T	ENST00000296736.3	-	2	1041	c.267C>A	c.(265-267)atC>atA	p.I89I	TIGD6_ENST00000515406.2_Silent_p.I89I	NM_030953.3	NP_112215.1	Q17RP2	TIGD6_HUMAN	tigger transposable element derived 6	89	HTH CENPB-type.				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|stomach(1)	10			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			TTTTGGCATGGATTTCTTGAA	0.453													94	114					1.22118e-62	1.56561e-62	1	1	0	T	149375645	G	T	149375645	2	4	126	1	0	0	0	0	0	0	0	1	15960	1164	41	5		5	TIGD6	5	149375645	Silent	SNP	G	TCGA-DU-8165-01A-11D-2253-08	3982201	149375645	31539615	27	21337											
FAT2	2196	broad.mit.edu	37	5	150943010	150943010	+	Silent	SNP	A	A	G			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr5:150943010A>G	ENST00000261800.5	-	2	3462	c.3450T>C	c.(3448-3450)gcT>gcC	p.A1150A		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	1150	Cadherin 10.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGCCCACGGGAGCATCCTCCT	0.542													9	95					0	0	1	0	0	G	150943010	A	G	150943010	2	3	126	1	0	0	0	0	0	0	0	1	5723	291	11	3		3	FAT2	5	150943010	Silent	SNP	A	TCGA-DU-8165-01A-11D-2253-08	1567365	150943010	29972250	28	21338											
FAM83B	222584	broad.mit.edu	37	6	54806263	54806263	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr6:54806263C>A	ENST00000306858.7	+	5	2610	c.2494C>A	c.(2494-2496)Cat>Aat	p.H832N		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	832										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					TAGAAGAAAGCATTCTTCCTC	0.378													15	28					6.31663e-08	6.94135e-08	1	1	0	A	54806263	C	A	54806263	3	1	126	1	0	0	0	0	1	0	0	0	5666	710	25	5	2508	5	FAM83B	6	54806263	Missense_Mutation	SNP	C	TCGA-DU-8165-01A-11D-2253-08		54806263	116308804	29	21339											
POM121L12	285877	broad.mit.edu	37	7	53103578	53103578	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr7:53103578G>T	ENST00000408890.4	+	1	230	c.214G>T	c.(214-216)Gtg>Ttg	p.V72L		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	72										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						GGGGCGCCCGGTGCCCAGCAC	0.711													12	49					3.87621e-19	4.78544e-19	1	1	0	T	53103578	G	T	53103578	3	4	126	1	0	0	0	0	1	0	0	0	12289	1261	44	5	216	5	POM121L12	7	53103578	Missense_Mutation	SNP	G	TCGA-DU-8165-01A-11D-2253-08		53103578	106035085	30	21340											
CALCR	799	broad.mit.edu	37	7	93065307	93065307	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr7:93065307C>T	ENST00000359558.2	-	14	1507	c.1208G>A	c.(1207-1209)gGg>gAg	p.G403E	CALCR_ENST00000360249.4_Missense_Mutation_p.G385E|CALCR_ENST00000426151.1_Missense_Mutation_p.G369E|CALCR_ENST00000421592.1_Missense_Mutation_p.G385E|CALCR_ENST00000394441.1_Missense_Mutation_p.G369E	NM_001164737.1	NP_001158209.1	P30988	CALCR_HUMAN	calcitonin receptor	385					activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus	integral to plasma membrane	calcitonin binding|calcitonin receptor activity|protein binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Salmon Calcitonin(DB00017)	ATATATCTTCCCAAGCATCTT	0.453													8	46					0	0	1	0	0	T	93065307	C	T	93065307	3	4	126	1	0	0	0	0	1	0	0	0	2597	623	22	2	330	2	CALCR	7	93065307	Missense_Mutation	SNP	C	TCGA-DU-8165-01A-11D-2253-08	39961729	93065307	66073356	31	21341											
BAIAP2L1	55971	broad.mit.edu	37	7	97922907	97922907	+	Splice_Site	SNP	C	C	T			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr7:97922907C>T	ENST00000005260.8	-	14	1677	c.1462G>A	c.(1462-1464)Gga>Aga	p.G488R		NM_018842.4	NP_061330.2	Q9UHR4	BI2L1_HUMAN	BAI1-associated protein 2-like 1	488	Binds F-actin.				filopodium assembly|positive regulation of actin cytoskeleton reorganization|positive regulation of actin filament polymerization|response to bacterium|signal transduction	cell junction|cytoskeleton|cytosol|nucleus	actin binding|cytoskeletal adaptor activity|proline-rich region binding|SH3 domain binding			NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)	23	all_cancers(62;4.34e-10)|all_epithelial(64;5e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0113)|all_lung(186;0.0126)		STAD - Stomach adenocarcinoma(171;0.215)			GGGTTTTCTCCGCTGCAGGGG	0.527													18	90					0	0	1	0	0	T	97922907	C	T	97922907	5	4	126	1	0	0	0	0	0	0	1	0	1300	666	23	1	77	1	BAIAP2L1	7	97922907	Splice_Site	SNP	C	TCGA-DU-8165-01A-11D-2253-08	4857600	97922907	61215756	32	21342											
FLNC	2318	broad.mit.edu	37	7	128494111	128494111	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr7:128494111C>T	ENST00000325888.8	+	40	6829	c.6568C>T	c.(6568-6570)Cgc>Tgc	p.R2190C	RP11-309L24.2_ENST00000469965.1_RNA|FLNC_ENST00000346177.6_Missense_Mutation_p.R2157C	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	2190	Intradomain insert.				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						CCGCACGGAGCGCACGGAGAT	0.657													18	32					0	0	1	0	0	T	128494111	C	T	128494111	3	4	126	1	0	0	0	0	1	0	0	0	5968	768	27	1	6726	1	FLNC	7	128494111	Missense_Mutation	SNP	C	TCGA-DU-8165-01A-11D-2253-08	30571204	128494111	30644552	33	21343											
ZFHX4	79776	broad.mit.edu	37	8	77617899	77617899	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr8:77617899T>G	ENST00000521891.2	+	2	2024	c.1576T>G	c.(1576-1578)Tcg>Gcg	p.S526A	ZFHX4_ENST00000518282.1_Missense_Mutation_p.S526A|ZFHX4_ENST00000455469.2_Missense_Mutation_p.S526A|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000050961.6_Missense_Mutation_p.S526A	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	526	Poly-Ser.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CTCGTCCTCCTCGGCGACTGT	0.428										HNSCC(33;0.089)			10	17					0	0	1	0	0	G	77617899	T	G	77617899	3	3	126	1	0	0	0	0	1	0	0	0	17693	1551	54	5	1578	5	ZFHX4	8	77617899	Missense_Mutation	SNP	T	TCGA-DU-8165-01A-11D-2253-08		77617899	68746123	34	21344											
MATN2	4147	broad.mit.edu	37	8	99019780	99019780	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr8:99019780T>G	ENST00000254898.5	+	10	1755	c.1524T>G	c.(1522-1524)tgT>tgG	p.C508W	MATN2_ENST00000521689.1_Missense_Mutation_p.C508W|MATN2_ENST00000520016.1_Missense_Mutation_p.C508W|MATN2_ENST00000524308.1_Missense_Mutation_p.C467W|MATN2_ENST00000522025.2_Missense_Mutation_p.C224W	NM_002380.3|NM_030583.2	NP_002371.3|NP_085072.2	O00339	MATN2_HUMAN	matrilin 2	508	EGF-like 7.					proteinaceous extracellular matrix	calcium ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(2)|urinary_tract(1)	31	Breast(36;1.43e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.244)			CCTTTGCCTGTCAGTGTCCTG	0.557													34	63					0	0	1	0	0	G	99019780	T	G	99019780	3	3	126	1	0	0	0	0	1	0	0	0	9384	1673	58	5	1558	5	MATN2	8	99019780	Missense_Mutation	SNP	T	TCGA-DU-8165-01A-11D-2253-08	21401881	99019780	47344242	35	21345											
COL22A1	169044	broad.mit.edu	37	8	139793188	139793188	+	Silent	SNP	G	G	A			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr8:139793188G>A	ENST00000303045.6	-	13	2078	c.1632C>T	c.(1630-1632)gaC>gaT	p.D544D	COL22A1_ENST00000435777.1_Silent_p.D544D	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	544	Collagen-like 2.|Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			CTTTGCTGCCGTCTCTCCCAG	0.527										HNSCC(7;0.00092)			20	36					0	0	1	0	0	A	139793188	G	A	139793188	2	1	126	1	0	0	0	0	0	0	0	1	3704	1136	40	1		1	COL22A1	8	139793188	Silent	SNP	G	TCGA-DU-8165-01A-11D-2253-08	40773408	139793188	6570834	36	21346											
GRIN3A	116443	broad.mit.edu	37	9	104341582	104341582	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr9:104341582C>G	ENST00000361820.3	-	7	3427	c.2827G>C	c.(2827-2829)Ggt>Cgt	p.G943R		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	943					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	ATGGACAGACCAAATCCAATG	0.448													4	62					0	0	1	0	0	G	104341582	C	G	104341582	3	3	126	1	0	0	0	0	1	0	0	0	6824	594	21	5	532	5	GRIN3A	9	104341582	Missense_Mutation	SNP	C	TCGA-DU-8165-01A-11D-2253-08		104341582	36871849	37	21347											
OR52I2	143502	broad.mit.edu	37	11	4608347	4608347	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr11:4608347T>C	ENST00000312614.4	+	1	327	c.305T>C	c.(304-306)gTt>gCt	p.V102A		NM_001005170.2	NP_001005170.1	Q8NH67	O52I2_HUMAN	olfactory receptor, family 52, subfamily I, member 2	102					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|pancreas(1)|skin(1)	19		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		GTGGACATTGTTATGGCCTCC	0.483													65	166					0	0	1	0	0	C	4608347	T	C	4608347	3	2	126	1	0	0	0	0	1	0	0	0	11169	1725	60	3	307	3	OR52I2	11	4608347	Missense_Mutation	SNP	T	TCGA-DU-8165-01A-11D-2253-08		4608347	130398169	38	21348											
OR51A2	401667	broad.mit.edu	37	11	4976474	4976474	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr11:4976474A>T	ENST00000380371.1	-	1	469	c.470T>A	c.(469-471)cTg>cAg	p.L157Q	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001004748.1	NP_001004748.1	Q8NGJ7	O51A2_HUMAN	olfactory receptor, family 51, subfamily A, member 2	157					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		GGGAAGAACCAGGAGCATGCT	0.438													16	98					0	0	1	0	0	T	4976474	A	T	4976474	3	4	126	1	0	0	0	0	1	0	0	0	11134	188	7	5	473	5	OR51A2	11	4976474	Missense_Mutation	SNP	A	TCGA-DU-8165-01A-11D-2253-08	368127	4976474	130030042	39	21349											
OR52E8	390079	broad.mit.edu	37	11	5878650	5878650	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr11:5878650T>C	ENST00000537935.1	-	1	314	c.283A>G	c.(283-285)Acc>Gcc	p.T95A	TRIM5_ENST00000380027.1_Intron	NM_001005168.1	NP_001005168.1	Q6IFG1	O52E8_HUMAN	olfactory receptor, family 52, subfamily E, member 8	95					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	20		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.114)		Epithelial(150;2.37e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATTTCTTTGGTATTGAACCAG	0.473													54	90					0	0	1	0	0	C	5878650	T	C	5878650	3	2	126	1	0	0	0	0	1	0	0	0	11166	1638	57	3	672	3	OR52E8	11	5878650	Missense_Mutation	SNP	T	TCGA-DU-8165-01A-11D-2253-08	902176	5878650	129127866	40	21350											
ANO1	55107	broad.mit.edu	37	11	69950226	69950226	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr11:69950226C>T	ENST00000355303.5	+	4	967	c.662C>T	c.(661-663)tCc>tTc	p.S221F	ANO1_ENST00000538023.1_Missense_Mutation_p.S221F|ANO1_ENST00000530676.1_Missense_Mutation_p.S105F|ANO1_ENST00000398543.2_Missense_Mutation_p.S105F|ANO1_ENST00000316296.5_Missense_Mutation_p.S193F	NM_018043.5	NP_060513.5	Q5XXA6	ANO1_HUMAN	anoctamin 1, calcium activated chloride channel	221					multicellular organismal development	chloride channel complex|cytoplasm|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29						AAGAGACTCTCCTATCCCTTC	0.542													4	6					0	0	1	0	0	T	69950226	C	T	69950226	3	4	126	1	0	0	0	0	1	0	0	0	689	855	30	2	676	2	ANO1	11	69950226	Missense_Mutation	SNP	C	TCGA-DU-8165-01A-11D-2253-08	64071576	69950226	65056290	41	21351											
SHANK2	22941	broad.mit.edu	37	11	70319315	70319315	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr11:70319315G>C	ENST00000338508.4	-	33	5211	c.5212C>G	c.(5212-5214)Ctc>Gtc	p.L1738V	SHANK2_ENST00000449833.2_Missense_Mutation_p.L1142V|SHANK2_ENST00000409161.1_Missense_Mutation_p.L1141V|SHANK2_ENST00000423696.2_Missense_Mutation_p.L1358V			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	1358					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding	p.L1142V(1)|p.L1738V(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			ACATCTGAGAGAGCGGGAGAA	0.602													31	60					0	0	1	0	0	C	70319315	G	C	70319315	3	2	126	1	0	0	0	0	1	0	0	0	14320	942	33	4	344	4	SHANK2	11	70319315	Missense_Mutation	SNP	G	TCGA-DU-8165-01A-11D-2253-08	369089	70319315	64687201	42	21352											
MMP8	4317	broad.mit.edu	37	11	102587093	102587093	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr11:102587093G>T	ENST00000236826.3	-	6	940	c.842C>A	c.(841-843)cCc>cAc	p.P281H		NM_002424.2	NP_002415.1	P22894	MMP8_HUMAN	matrix metallopeptidase 8 (neutrophil collagenase)	281					collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(4)|skin(6)|stomach(1)|urinary_tract(1)	32	all_cancers(8;0.00092)|all_epithelial(12;0.00389)|Lung NSC(15;0.227)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0555)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.189)	BRCA - Breast invasive adenocarcinoma(274;0.0141)		TGTCAAACTGGGGTCACAGGG	0.363													33	60					1.4374e-25	1.81949e-25	1	1	0	T	102587093	G	T	102587093	3	4	126	1	0	0	0	0	1	0	0	0	9717	1232	43	5	581	5	MMP8	11	102587093	Missense_Mutation	SNP	G	TCGA-DU-8165-01A-11D-2253-08	32267778	102587093	32419423	43	21353											
ADAMTS20	80070	broad.mit.edu	37	12	43822162	43822162	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr12:43822162T>A	ENST00000389420.3	-	26	3826	c.3827A>T	c.(3826-3828)cAg>cTg	p.Q1276L	ADAMTS20_ENST00000553158.1_Missense_Mutation_p.Q1276L|ADAMTS20_ENST00000395541.2_Missense_Mutation_p.Q394L	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1276						proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		ATAGCTTGGCTGCACAGGGGA	0.468													4	74					0	0	1	0	0	A	43822162	T	A	43822162	3	1	126	1	0	0	0	0	1	0	0	0	265	1580	55	5	1960	5	ADAMTS20	12	43822162	Missense_Mutation	SNP	T	TCGA-DU-8165-01A-11D-2253-08		43822162	90029733	44	21354											
OR9K2	441639	broad.mit.edu	37	12	55524375	55524375	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr12:55524375G>A	ENST00000305377.5	+	1	911	c.823G>A	c.(823-825)Gtg>Atg	p.V275M		NM_001005243.1	NP_001005243.1	Q8NGE7	OR9K2_HUMAN	olfactory receptor, family 9, subfamily K, member 2	275					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(3)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(2)	31						AGTTGTGAGTGTGCTGTATGG	0.438													25	115					0	0	1	0	0	A	55524375	G	A	55524375	3	1	126	1	0	0	0	0	1	0	0	0	11301	1377	48	2	825	2	OR9K2	12	55524375	Missense_Mutation	SNP	G	TCGA-DU-8165-01A-11D-2253-08	11702213	55524375	78327520	45	21355											
LRRIQ1	84125	broad.mit.edu	37	12	85521757	85521757	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr12:85521757A>T	ENST00000393217.2	+	18	4216	c.4155A>T	c.(4153-4155)agA>agT	p.R1385S		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	1385										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		AAGGAAAAAGAGAAAATATTG	0.353													11	78					0	0	1	0	0	T	85521757	A	T	85521757	3	4	126	1	0	0	0	0	1	0	0	0	9074	301	11	5	4225	5	LRRIQ1	12	85521757	Missense_Mutation	SNP	A	TCGA-DU-8165-01A-11D-2253-08	29997382	85521757	48330138	46	21356											
ATP6V0A2	23545	broad.mit.edu	37	12	124228804	124228804	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr12:124228804G>A	ENST00000330342.3	+	11	1494	c.1246G>A	c.(1246-1248)Gga>Aga	p.G416R		NM_012463.3	NP_036595.2	Q9Y487	VPP2_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a2	416					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|immune response|insulin receptor signaling pathway|transferrin transport	endosome membrane|integral to membrane|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	hydrogen ion transmembrane transporter activity|protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.000625)|all cancers(50;0.00775)		TGGAGACTTCGGACATGGCTT	0.373													28	82					0	0	1	0	0	A	124228804	G	A	124228804	3	1	126	1	0	0	0	0	1	0	0	0	1167	1117	39	1	1288	1	ATP6V0A2	12	124228804	Missense_Mutation	SNP	G	TCGA-DU-8165-01A-11D-2253-08	38707047	124228804	9623091	47	21357											
ERO1L	30001	broad.mit.edu	37	14	53138414	53138414	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr14:53138414T>C	ENST00000395686.3	-	6	665	c.442A>G	c.(442-444)Aca>Gca	p.T148A		NM_014584.1	NP_055399.1	Q96HE7	ERO1A_HUMAN	ERO1-like (S. cerevisiae)	148					chaperone mediated protein folding requiring cofactor|electron transport chain|protein thiol-disulfide exchange|response to temperature stimulus|transport	endoplasmic reticulum lumen|endoplasmic reticulum membrane|microsome	disulfide oxidoreductase activity|flavin adenine dinucleotide binding|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor		ERO1L/FERMT2(2)	breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	12	Breast(41;0.226)					GCCTTCTGTGTTTCCTCACTT	0.284													20	9					0	0	1	0	0	C	53138414	T	C	53138414	3	2	126	1	0	0	0	0	1	0	0	0	5267	1725	60	3	1008	3	ERO1L	14	53138414	Missense_Mutation	SNP	T	TCGA-DU-8165-01A-11D-2253-08		53138414	54211126	48	21358											
DMXL2	23312	broad.mit.edu	37	15	51773679	51773679	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr15:51773679T>C	ENST00000251076.5	-	24	5911	c.5624A>G	c.(5623-5625)gAt>gGt	p.D1875G	DMXL2_ENST00000449909.3_Missense_Mutation_p.D1239G|RP11-707P17.1_ENST00000561007.1_RNA|DMXL2_ENST00000543779.2_Missense_Mutation_p.D1875G	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	1875						cell junction|synaptic vesicle membrane	Rab GTPase binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		GTTAATTTTATCAACAAAGTT	0.378													6	41					0	0	1	0	0	C	51773679	T	C	51773679	3	2	126	1	0	0	0	0	1	0	0	0	4623	1435	50	3	3569	3	DMXL2	15	51773679	Missense_Mutation	SNP	T	TCGA-DU-8165-01A-11D-2253-08		51773679	50757713	49	21359											
ZNF200	7752	broad.mit.edu	37	16	3282875	3282875	+	Silent	SNP	C	C	T			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr16:3282875C>T	ENST00000431561.3	-	3	909	c.297G>A	c.(295-297)aaG>aaA	p.K99K	ZNF200_ENST00000414144.2_Silent_p.K99K|ZNF200_ENST00000396870.4_Silent_p.K99K|ZNF200_ENST00000396868.3_Silent_p.K99K|ZNF200_ENST00000575948.1_Silent_p.K99K|ZNF200_ENST00000396871.4_Silent_p.K99K	NM_001145447.1|NM_003454.3	NP_001138919.1|NP_003445.2	P98182	ZN200_HUMAN	zinc finger protein 200	99					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			breast(2)|kidney(2)|large_intestine(4)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	17						TCTCTTGTTCCTTTTGGACTC	0.478													12	32					0	0	1	0	0	T	3282875	C	T	3282875	2	4	126	1	0	0	0	0	0	0	0	1	17820	680	24	2		2	ZNF200	16	3282875	Silent	SNP	C	TCGA-DU-8165-01A-11D-2253-08		3282875	87071878	50	21360											
USP31	57478	broad.mit.edu	37	16	23085199	23085199	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr16:23085199A>G	ENST00000219689.7	-	14	2178	c.2179T>C	c.(2179-2181)Tac>Cac	p.Y727H		NM_020718.3	NP_065769.3	Q70CQ4	UBP31_HUMAN	ubiquitin specific peptidase 31	727					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57				GBM - Glioblastoma multiforme(48;0.0187)		TTCTTACAGTACGCTGCCAAA	0.542													6	26					0	0	1	0	0	G	23085199	A	G	23085199	3	3	126	1	0	0	0	0	1	0	0	0	17122	391	14	3	1891	3	USP31	16	23085199	Missense_Mutation	SNP	A	TCGA-DU-8165-01A-11D-2253-08	19802324	23085199	67269554	51	21361											
SBK1	388228	broad.mit.edu	37	16	28331420	28331420	+	Silent	SNP	G	G	C			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr16:28331420G>C	ENST00000341901.4	+	4	1242	c.453G>C	c.(451-453)gtG>gtC	p.V151V		NM_001024401.2	NP_001019572.1	Q52WX2	SBK1_HUMAN	SH3 domain binding kinase 1	151	Protein kinase.					cytoplasm	ATP binding|protein serine/threonine kinase activity			kidney(1)|lung(3)|ovary(1)	5						AGGACACGGTGAAGCGCTGTG	0.716													3	7					0	0	1	0	0	C	28331420	G	C	28331420	2	2	126	1	0	0	0	0	0	0	0	1	13913	1277	45	5		5	SBK1	16	28331420	Silent	SNP	G	TCGA-DU-8165-01A-11D-2253-08	5246221	28331420	62023333	52	21362											
IRX6	79190	broad.mit.edu	37	16	55362679	55362679	+	Silent	SNP	G	G	A			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr16:55362679G>A	ENST00000290552.7	+	5	2121	c.789G>A	c.(787-789)gaG>gaA	p.E263E	RP11-26L20.3_ENST00000558730.2_RNA	NM_024335.2	NP_077311.2	P78412	IRX6_HUMAN	iroquois homeobox 6	263						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33						aggaagaggaggaggaggagg	0.627													3	41					0	0	1	0	0	A	55362679	G	A	55362679	2	1	126	1	0	0	0	0	0	0	0	1	7892	991	35	2		2	IRX6	16	55362679	Silent	SNP	G	TCGA-DU-8165-01A-11D-2253-08	27031259	55362679	34992074	53	21363											
PAFAH1B1	5048	broad.mit.edu	37	17	2569347	2569347	+	Frame_Shift_Del	DEL	A	A	-	rs113994198		TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr17:2569347delA	ENST00000397195.5	+	4	606	c.155delA	c.(154-156)gaafs	p.E52fs	PAFAH1B1_ENST00000572915.2_Intron	NM_000430.3	NP_000421.1	P43034	LIS1_HUMAN	platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)	52	Interaction with NDE1 (By similarity).|Interaction with NDEL1 (By similarity).				acrosome assembly|actin cytoskeleton organization|adult locomotory behavior|brain morphogenesis|corpus callosum morphogenesis|establishment of mitotic spindle orientation|G2/M transition of mitotic cell cycle|hippocampus development|layer formation in cerebral cortex|learning or memory|lipid catabolic process|microtubule organizing center organization|mitotic prometaphase|neuroblast proliferation|neuromuscular process controlling balance|neuron migration|platelet activating factor metabolic process|regulation of Rho GTPase activity|retrograde axon cargo transport|synaptic transmission|vesicle transport along microtubule	astral microtubule|cell cortex|centrosome|cytosol|kinetochore|motile primary cilium|nuclear membrane|perinuclear region of cytoplasm	dynactin binding|heparin binding|microtubule binding|phospholipase binding|phosphoprotein binding|protein homodimerization activity			endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(1)|skin(1)	11						GGTCTTTTGGAAAAAAAATGG	0.244													2	4	---	---	---	---						-	2569347	A	-	2569347	7	5	126	1	0	1	0	1	0	0	0	0	11431	246	9	0	165	0	PAFAH1B1	17	2569347	Frame_Shift_Del	DEL	A	TCGA-DU-8165-01A-11D-2253-08		2569347	78625863	54	21364											
TP53	7157	broad.mit.edu	37	17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	rs121913343		TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr17:7577121G>A	ENST00000420246.2	-	8	949	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron|TP53_ENST00000269305.4_Missense_Mutation_p.R273C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	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).		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.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			5	16					0	0	1	0	0	A	7577121	G	A	7577121	3	1	126	1	0	0	0	0	1	0	0	0	16442	1087	38	1	469	1	TP53	17	7577121	Missense_Mutation	SNP	G	TCGA-DU-8165-01A-11D-2253-08	5007774	7577121	73618089	55	21365											
TP53	7157	broad.mit.edu	37	17	7578458	7578458	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr17:7578458G>T	ENST00000420246.2	-	5	604	c.472C>A	c.(472-474)Cgc>Agc	p.R158S	TP53_ENST00000455263.2_Missense_Mutation_p.R158S|TP53_ENST00000445888.2_Missense_Mutation_p.R158S|TP53_ENST00000359597.4_Missense_Mutation_p.R158S|TP53_ENST00000413465.2_Missense_Mutation_p.R158S|TP53_ENST00000269305.4_Missense_Mutation_p.R158S	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	158	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> C (in sporadic cancers; somatic mutation).|R -> F (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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.R158C(17)|p.R158G(16)|p.0?(8)|p.R158fs(6)|p.R158fs*12(6)|p.R158fs*11(6)|p.R65fs(2)|p.R65G(2)|p.R158_A159delRA(2)|p.R156_I162delRVRAMAI(2)|p.R26G(2)|p.V157fs*9(2)|p.P153fs*22(2)|p.R26fs(2)|p.V157fs*22(2)|p.V157_C176del20(1)|p.R156_A161delRVRAMA(1)|p.R158F(1)|p.P151_V173del23(1)|p.R158fs*24(1)|p.R156_R158delRVR(1)|p.R156fs*18(1)|p.R26fs*11(1)|p.R156_A161del(1)|p.V157_M160delVRAM(1)|p.R156fs*12(1)|p.V157_R158delVR(1)|p.S149fs*72(1)|p.A159fs*21(1)|p.T155_A161delTRVRAMA(1)|p.G154fs*22(1)|p.R65fs*11(1)|p.R156fs*20(1)|p.V157_I162delVRAMAI(1)|p.V157fs*21(1)|p.R158fs*8(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)		GCCATGGCGCGGACGCGGGTG	0.622		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)			31	72					1.67305e-13	2.01572e-13	1	1	0	T	7578458	G	T	7578458	3	4	126	1	0	0	0	0	1	0	0	0	16442	1116	39	5	826	5	TP53	17	7578458	Missense_Mutation	SNP	G	TCGA-DU-8165-01A-11D-2253-08	1337	7578458	73616752	56	21366											
WDR16	146845	broad.mit.edu	37	17	9546373	9546373	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr17:9546373A>G	ENST00000352665.5	+	14	1790	c.1721A>G	c.(1720-1722)tAt>tGt	p.Y574C	WDR16_ENST00000396219.3_Missense_Mutation_p.Y506C|RP11-55L4.2_ENST00000584676.1_RNA|WDR16_ENST00000299764.5_Missense_Mutation_p.Y584C	NM_145054.4	NP_659491.4	Q8N1V2	WDR16_HUMAN	WD repeat domain 16	574						cytoplasm|intracellular membrane-bounded organelle	protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31						GTTTGGGATTATAATGAGGGT	0.433													8	34					0	0	1	0	0	G	9546373	A	G	9546373	3	3	126	1	0	0	0	0	1	0	0	0	17336	449	16	3	1775	3	WDR16	17	9546373	Missense_Mutation	SNP	A	TCGA-DU-8165-01A-11D-2253-08	1967915	9546373	71648837	57	21367											
HNF1B	6928	broad.mit.edu	37	17	36093613	36093613	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr17:36093613G>T	ENST00000225893.4	-	3	1107	c.746C>A	c.(745-747)gCc>gAc	p.A249D	HNF1B_ENST00000427275.2_Missense_Mutation_p.A223D|HNF1B_ENST00000561193.1_Missense_Mutation_p.A223D|HNF1B_ENST00000560016.1_Missense_Mutation_p.A249D	NM_000458.2|NM_001165923.1	NP_000449.1|NP_001159395.1	P35680	HNF1B_HUMAN	HNF1 homeobox B	249					endocrine pancreas development|genitalia development|kidney development|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric nephron tubule development|regulation of pronephros size	nucleus	DNA binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(3)|large_intestine(2)|liver(1)|lung(3)|ovary(3)|prostate(1)|skin(2)	28		Breast(25;0.00765)|Ovarian(249;0.15)	STAD - Stomach adenocarcinoma(1;0.0142)			CCGATCGTAGGCCTGGTACAA	0.582													20	118					1.10923e-09	1.2898e-09	1	1	0	T	36093613	G	T	36093613	3	4	126	1	0	0	0	0	1	0	0	0	7293	1203	42	5	955	5	HNF1B	17	36093613	Missense_Mutation	SNP	G	TCGA-DU-8165-01A-11D-2253-08	26547240	36093613	45101597	58	21368											
PTPRM	5797	broad.mit.edu	37	18	8113636	8113636	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr18:8113636T>A	ENST00000332175.8	+	12	3046	c.2009T>A	c.(2008-2010)cTc>cAc	p.L670H	PTPRM_ENST00000580170.1_Missense_Mutation_p.L670H|PTPRM_ENST00000400053.4_Missense_Mutation_p.L608H|PTPRM_ENST00000444013.1_Missense_Mutation_p.L457H|PTPRM_ENST00000400060.4_Missense_Mutation_p.L670H	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	670	Fibronectin type-III 4.				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				GCAGACAGCCTCCAAGCTGCG	0.418													33	128					0	0	1	0	0	A	8113636	T	A	8113636	3	1	126	1	0	0	0	0	1	0	0	0	12858	1551	54	5	2055	5	PTPRM	18	8113636	Missense_Mutation	SNP	T	TCGA-DU-8165-01A-11D-2253-08		8113636	69963612	59	21369											
DSG1	1828	broad.mit.edu	37	18	28935112	28935112	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr18:28935112G>T	ENST00000257192.4	+	15	3165	c.2953G>T	c.(2953-2955)Ggt>Tgt	p.G985C	RP11-534N16.1_ENST00000581452.1_RNA|RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000578477.1_RNA|DSG1_ENST00000462981.2_Missense_Mutation_p.G344C	NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	985	Gly/Ser-rich.				calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			CACCAGCATGGGTGCTGGGAG	0.602													33	81					3.90053e-15	4.75674e-15	1	1	0	T	28935112	G	T	28935112	3	4	126	1	0	0	0	0	1	0	0	0	4802	1232	43	5	3011	5	DSG1	18	28935112	Missense_Mutation	SNP	G	TCGA-DU-8165-01A-11D-2253-08	20821476	28935112	49142136	60	21370											
B3GNT3	10331	broad.mit.edu	37	19	17922692	17922692	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr19:17922692C>A	ENST00000318683.6	+	3	1027	c.880C>A	c.(880-882)Ccc>Acc	p.P294T	B3GNT3_ENST00000595387.1_Missense_Mutation_p.P294T	NM_014256.3	NP_055071.2	Q9Y2A9	B3GN3_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3	294					protein glycosylation	Golgi membrane|integral to plasma membrane	galactosyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	21						GGACATCTTCCCCATTGATGA	0.622													15	142					2.94398e-08	3.27109e-08	1	1	0	A	17922692	C	A	17922692	3	1	126	1	0	0	0	0	1	0	0	0	1256	623	22	5	886	5	B3GNT3	19	17922692	Missense_Mutation	SNP	C	TCGA-DU-8165-01A-11D-2253-08		17922692	41206291	61	21371											
ZNF536	9745	broad.mit.edu	37	19	31040286	31040286	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr19:31040286G>T	ENST00000355537.3	+	4	3907	c.3760G>T	c.(3760-3762)Ggg>Tgg	p.G1254W		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	1254					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					GCCGGAGCGGGGGCCCCAGAG	0.607													5	17					2.0095e-06	2.13776e-06	1	1	0	T	31040286	G	T	31040286	3	4	126	1	0	0	0	0	1	0	0	0	18031	1232	43	5	3770	5	ZNF536	19	31040286	Missense_Mutation	SNP	G	TCGA-DU-8165-01A-11D-2253-08	13117594	31040286	28088697	62	21372											
ATP4A	495	broad.mit.edu	37	19	36046429	36046429	+	Silent	SNP	G	G	C	rs150964145	byFrequency	TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr19:36046429G>C	ENST00000262623.3	-	14	2098	c.2070C>G	c.(2068-2070)gtC>gtG	p.V690V		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	690					ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)	GCAGGGCCTCGACCAGTTCCG	0.657													4	59					0	0	1	0	0	C	36046429	G	C	36046429	2	2	126	1	0	0	0	0	0	0	0	1	1144	1045	37	5		5	ATP4A	19	36046429	Silent	SNP	G	TCGA-DU-8165-01A-11D-2253-08	5006143	36046429	23082554	63	21373											
PSG11	5680	broad.mit.edu	37	19	43519344	43519344	+	Silent	SNP	A	A	G			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr19:43519344A>G	ENST00000401740.1	-	4	991	c.888T>C	c.(886-888)aaT>aaC	p.N296N	PSG11_ENST00000320078.7_Silent_p.N296N|PSG11_ENST00000306322.7_Silent_p.N174N|PSG11_ENST00000403486.1_Silent_p.N174N			Q9UQ72	PSG11_HUMAN	pregnancy specific beta-1-glycoprotein 11	296	Ig-like C2-type 2.				female pregnancy	extracellular region				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	26		Prostate(69;0.00682)				CATAGAGCCCATTATGCTTTG	0.463													36	106					0	0	1	0	0	G	43519344	A	G	43519344	2	3	126	1	0	0	0	0	0	0	0	1	12703	214	8	3		3	PSG11	19	43519344	Silent	SNP	A	TCGA-DU-8165-01A-11D-2253-08	7472915	43519344	15609639	64	21374											
LILRA4	23547	broad.mit.edu	37	19	54849804	54849804	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr19:54849804T>A	ENST00000291759.4	-	3	274	c.218A>T	c.(217-219)aAa>aTa	p.K73I		NM_012276.3	NP_036408.3	P59901	LIRA4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4	73	Ig-like C2-type 1.					integral to membrane	receptor activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	32	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0565)		CTCCAGTGTTTTTAATATGTG	0.522													44	102					0	0	1	0	0	A	54849804	T	A	54849804	3	1	126	1	0	0	0	0	1	0	0	0	8827	1841	64	5	1305	5	LILRA4	19	54849804	Missense_Mutation	SNP	T	TCGA-DU-8165-01A-11D-2253-08	11330460	54849804	4279179	65	21375											
PLCB1	23236	broad.mit.edu	37	20	8737747	8737747	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr20:8737747G>T	ENST00000378641.3	+	24	3053	c.2578G>T	c.(2578-2580)Gca>Tca	p.A860S	PLCB1_ENST00000338037.6_Missense_Mutation_p.A860S|PLCB1_ENST00000494924.1_3'UTR|PLCB1_ENST00000378637.2_Missense_Mutation_p.A860S	NM_182734.1	NP_877398.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	860					activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						AACGACTCCAGCAGAAAATGG	0.478													21	82					9.57634e-11	1.12663e-10	1	1	0	T	8737747	G	T	8737747	3	4	126	1	0	0	0	0	1	0	0	0	12075	971	34	4	2672	4	PLCB1	20	8737747	Missense_Mutation	SNP	G	TCGA-DU-8165-01A-11D-2253-08		8737747	54287773	66	21376											
SSTR4	6754	broad.mit.edu	37	20	23016128	23016128	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr20:23016128C>T	ENST00000255008.3	+	1	72	c.8C>T	c.(7-9)gCc>gTc	p.A3V	RP4-753D10.3_ENST00000440921.1_RNA	NM_001052.2	NP_001043.2	P31391	SSR4_HUMAN	somatostatin receptor 4	3					G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	32	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)					GTCATGAGCGCCCCCTCGACG	0.786													5	12					0	0	1	0	0	T	23016128	C	T	23016128	3	4	126	1	0	0	0	0	1	0	0	0	15256	739	26	2	10	2	SSTR4	20	23016128	Missense_Mutation	SNP	C	TCGA-DU-8165-01A-11D-2253-08	14278381	23016128	40009392	67	21377											
ATP9A	10079	broad.mit.edu	37	20	50224091	50224091	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr20:50224091T>C	ENST00000338821.5	-	26	3042	c.2778A>G	c.(2776-2778)atA>atG	p.I926M	ATP9A_ENST00000311637.5_Missense_Mutation_p.I790M|ATP9A_ENST00000402822.1_Missense_Mutation_p.I805M	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	926					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						TCAAAACCCATATTAAGAATG	0.498													5	45					0	0	1	0	0	C	50224091	T	C	50224091	3	2	126	1	0	0	0	0	1	0	0	0	1196	1396	49	3	377	3	ATP9A	20	50224091	Missense_Mutation	SNP	T	TCGA-DU-8165-01A-11D-2253-08	27207963	50224091	12801429	68	21378											
BAGE2	85319	broad.mit.edu	37	21	11047522	11047522	+	RNA	SNP	G	G	A			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr21:11047522G>A	ENST00000470054.1	-	0	732									B melanoma antigen family, member 2															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)		TTCATAATTCGTTGAAGACAA	0.353													29	304					0	0	1	0	0	A	11047522	G	A	11047522	1	1	126	0	1	0	0	0	0	0	0	0	1290	1160	40	1		1	BAGE2	21	11047522	RNA	SNP	G	TCGA-DU-8165-01A-11D-2253-08		11047522	37082373	69	21379											
GAB4	128954	broad.mit.edu	37	22	17473039	17473039	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr22:17473039G>A	ENST00000400588.1	-	2	309	c.202C>T	c.(202-204)Cgg>Tgg	p.R68W	GAB4_ENST00000523144.1_5'UTR	NM_001037814.1	NP_001032903.1	Q2WGN9	GAB4_HUMAN	GRB2-associated binding protein family, member 4	68	PH.									breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(24)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44		all_epithelial(15;0.112)|Lung NSC(13;0.248)				TGGCCCCTCCGCAGGATAAAC	0.493													50	93					0	0	1	0	0	A	17473039	G	A	17473039	3	1	126	1	0	0	0	0	1	0	0	0	6186	1086	38	1	1558	1	GAB4	22	17473039	Missense_Mutation	SNP	G	TCGA-DU-8165-01A-11D-2253-08		17473039	33831527	70	21380											
TLR8	51311	broad.mit.edu	37	X	12938644	12938644	+	Silent	SNP	C	C	T			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chrX:12938644C>T	ENST00000218032.6	+	2	1572	c.1485C>T	c.(1483-1485)ttC>ttT	p.F495F	TLR8_ENST00000311912.5_Silent_p.F513F	NM_138636.4	NP_619542.1	Q9NR97	TLR8_HUMAN	toll-like receptor 8	495					cellular response to mechanical stimulus|defense response to virus|I-kappaB kinase/NF-kappaB cascade|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process	endosome membrane	DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity	p.F513F(1)		breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						GTATTTTCTTCATTGGGCCAA	0.378													9	88					0	0	1	0	0	T	12938644	C	T	12938644	2	4	126	1	0	0	0	0	0	0	0	1	16017	825	29	2		2	TLR8	23	12938644	Silent	SNP	C	TCGA-DU-8165-01A-11D-2253-08		12938644	142331916	71	21381											
CXorf23	256643	broad.mit.edu	37	X	19955647	19955647	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chrX:19955647A>C	ENST00000379687.3	-	8	1782	c.1749T>G	c.(1747-1749)gaT>gaG	p.D583E	CXorf23_ENST00000356980.3_Missense_Mutation_p.D583E|CXorf23_ENST00000379682.4_Missense_Mutation_p.D583E	NM_198279.3	NP_938020.2	A2AJT9	CX023_HUMAN	chromosome X open reading frame 23	583						mitochondrion				endometrium(2)|large_intestine(1)|lung(6)|skin(1)|urinary_tract(1)	11						AATTCTGATCATCCCTAATAA	0.259													14	50					0	0	1	0	0	C	19955647	A	C	19955647	3	2	126	1	0	0	0	0	1	0	0	0	4126	214	8	4	315	4	CXorf23	23	19955647	Missense_Mutation	SNP	A	TCGA-DU-8165-01A-11D-2253-08	7017003	19955647	135314913	72	21382											
FAM47C	442444	broad.mit.edu	37	X	37027101	37027101	+	Silent	SNP	G	G	A			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chrX:37027101G>A	ENST00000358047.3	+	1	670	c.618G>A	c.(616-618)ccG>ccA	p.P206P		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	206								p.P206P(2)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						CCAAGACTCCGGTGTCCAGTC	0.652													23	63					0	0	1	0	0	A	37027101	G	A	37027101	2	1	126	1	0	0	0	0	0	0	0	1	5607	1103	39	1		1	FAM47C	23	37027101	Silent	SNP	G	TCGA-DU-8165-01A-11D-2253-08	17071454	37027101	118243459	73	21383											
DGAT2L6	347516	broad.mit.edu	37	X	69421805	69421805	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chrX:69421805G>A	ENST00000333026.3	+	5	638	c.538G>A	c.(538-540)Gtg>Atg	p.V180M		NM_198512.1	NP_940914.1	Q6ZPD8	DG2L6_HUMAN	diacylglycerol O-acyltransferase 2-like 6	180					lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity			breast(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(1)	12						AGGCAATGCCGTGGTTATTGT	0.512													14	79					0	0	1	0	0	A	69421805	G	A	69421805	3	1	126	1	0	0	0	0	1	0	0	0	4487	1145	40	1	556	1	DGAT2L6	23	69421805	Missense_Mutation	SNP	G	TCGA-DU-8165-01A-11D-2253-08	32394704	69421805	85848755	74	21384											
SYTL4	94121	broad.mit.edu	37	X	99931048	99931048	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chrX:99931048C>A	ENST00000455616.1	-	18	2339	c.1993G>T	c.(1993-1995)Gcc>Tcc	p.A665S	SYTL4_ENST00000276141.6_Missense_Mutation_p.A665S|SYTL4_ENST00000454200.2_Missense_Mutation_p.A667S|SYTL4_ENST00000491602.1_5'UTR|SYTL4_ENST00000263033.5_Missense_Mutation_p.A665S|SYTL4_ENST00000372989.1_Missense_Mutation_p.A665S			Q96C24	SYTL4_HUMAN	synaptotagmin-like 4	665					exocytosis|intracellular protein transport	extrinsic to membrane|plasma membrane|synaptic vesicle|transport vesicle membrane	neurexin binding|phospholipid binding|Rab GTPase binding|transporter activity|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(2)	27					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TTCTGCTTGGCCATTGAGGAA	0.552													5	17					0.0215528	0.0222193	1	1	0	A	99931048	C	A	99931048	3	1	126	1	0	0	0	0	1	0	0	0	15542	739	26	5	26	5	SYTL4	23	99931048	Missense_Mutation	SNP	C	TCGA-DU-8165-01A-11D-2253-08	30509243	99931048	55339512	75	21385											
HS6ST2	90161	broad.mit.edu	37	X	131762858	131762858	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chrX:131762858T>A	ENST00000370836.2	-	4	1626	c.1211A>T	c.(1210-1212)aAc>aTc	p.N404I	HS6ST2_ENST00000406696.3_Missense_Mutation_p.N130I|HS6ST2_ENST00000521489.1_Missense_Mutation_p.N444I|HS6ST2_ENST00000370833.2_Missense_Mutation_p.N298I	NM_147175.3	NP_671704.3	Q96MM7	H6ST2_HUMAN	heparan sulfate 6-O-sulfotransferase 2	404						integral to membrane	sulfotransferase activity			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(2)	9	Acute lymphoblastic leukemia(192;0.000127)					GACAGAGAGGTTGTAGCAGCC	0.522													29	122					0	0	1	0	0	A	131762858	T	A	131762858	3	1	126	1	0	0	0	0	1	0	0	0	7412	1725	60	5	610	5	HS6ST2	23	131762858	Missense_Mutation	SNP	T	TCGA-DU-8165-01A-11D-2253-08	31831810	131762858	23507702	76	21386											
BCL2L15	440603	broad.mit.edu	37	1	114424577	114424577	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chr1:114424577T>C	ENST00000393316.3	-	3	463	c.292A>G	c.(292-294)Acc>Gcc	p.T98A	BCL2L15_ENST00000471267.1_Intron|AP4B1-AS1_ENST00000419536.1_RNA|BCL2L15_ENST00000393320.3_Intron|BCL2L15_ENST00000488450.1_5'UTR	NM_001010922.2	NP_001010922.1	Q5TBC7	B2L15_HUMAN	BCL2-like 15	98					apoptosis					breast(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(3)|ovary(1)	9	Lung SC(450;0.184)	all_cancers(81;3.95e-08)|all_epithelial(167;9.95e-08)|all_lung(203;1.31e-05)|Lung NSC(69;2.46e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GCACACCAGGTCTTGCTGAGA	0.468													4	39					0	0	1	0	0	C	114424577	T	C	114424577	3	2	127	1	0	0	0	0	1	0	0	0	1371	1667	58	3	207	3	BCL2L15	1	114424577	Missense_Mutation	SNP	T	TCGA-DU-8166-01A-11D-2253-08		114424577	134826044	1	21387											
RNPEP	6051	broad.mit.edu	37	1	201972432	201972432	+	Silent	SNP	G	G	T			TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chr1:201972432G>T	ENST00000295640.4	+	9	1537	c.1494G>T	c.(1492-1494)ggG>ggT	p.G498G	RNPEP_ENST00000471105.1_3'UTR|RP11-465N4.4_ENST00000419190.1_RNA|RNPEP_ENST00000367286.3_Silent_p.G459G	NM_020216.3	NP_064601.3	Q9H4A4	AMPB_HUMAN	arginyl aminopeptidase (aminopeptidase B)	498					leukotriene biosynthetic process		epoxide hydrolase activity|zinc ion binding			breast(1)|endometrium(4)|large_intestine(4)|lung(6)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21				KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|Colorectal(1306;0.005)		TCTCCCCTGGGGACTCACTCA	0.562													22	53					1.42536e-11	1.61012e-11	1	1	0	T	201972432	G	T	201972432	2	4	127	1	0	0	0	0	0	0	0	1	13561	1219	43	5		5	RNPEP	1	201972432	Silent	SNP	G	TCGA-DU-8166-01A-11D-2253-08	87547855	201972432	47278189	2	21388											
USH2A	7399	broad.mit.edu	37	1	215987173	215987173	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chr1:215987173A>G	ENST00000366943.2	-	49	10030	c.9644T>C	c.(9643-9645)gTt>gCt	p.V3215A	USH2A_ENST00000307340.3_Missense_Mutation_p.V3215A			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3215					maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		AGAATTCAGAACAAACGGGAT	0.433										HNSCC(13;0.011)			7	60					0	0	1	0	0	G	215987173	A	G	215987173	3	3	127	1	0	0	0	0	1	0	0	0	17096	43	2	3	6060	3	USH2A	1	215987173	Missense_Mutation	SNP	A	TCGA-DU-8166-01A-11D-2253-08	14014741	215987173	33263448	3	21389											
GNPAT	8443	broad.mit.edu	37	1	231403559	231403559	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chr1:231403559C>T	ENST00000366647.4	+	9	1358	c.1189C>T	c.(1189-1191)Cgg>Tgg	p.R397W	GNPAT_ENST00000366646.3_Missense_Mutation_p.R336W	NM_014236.3	NP_055051.1	O15228	GNPAT_HUMAN	glyceronephosphate O-acyltransferase	397					ether lipid biosynthetic process|fatty acid metabolic process|organ morphogenesis	peroxisomal matrix|peroxisomal membrane	glycerone-phosphate O-acyltransferase activity			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	23	Breast(184;0.0871)	all_cancers(173;0.2)|Prostate(94;0.183)				GCTTCAGAACCGGCCATCCAT	0.458													3	52					0	0	1	0	0	T	231403559	C	T	231403559	3	4	127	1	0	0	0	0	1	0	0	0	6583	643	23	1	1223	1	GNPAT	1	231403559	Missense_Mutation	SNP	C	TCGA-DU-8166-01A-11D-2253-08	15416386	231403559	17847062	4	21390											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	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	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								38	57					0	0	1	0	0	T	209113112	C	T	209113112	3	4	127	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-DU-8166-01A-11D-2253-08		209113112	34086261	5	21391											
CHPF	79586	broad.mit.edu	37	2	220406861	220406861	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chr2:220406861G>A	ENST00000243776.6	-	2	613	c.365C>T	c.(364-366)gCg>gTg	p.A122V	CHPF_ENST00000373891.2_Missense_Mutation_p.A122V|CHPF_ENST00000535926.1_5'UTR	NM_024536.5	NP_078812	Q8IZ52	CHSS2_HUMAN	chondroitin polymerizing factor	122						Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)	21		Renal(207;0.0183)		Epithelial(149;3.02e-08)|all cancers(144;3.41e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		GGTCAGCACCGCCACCAGCAG	0.677											OREG0015229	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2	4					0	0	1	0	0	A	220406861	G	A	220406861	3	1	127	1	0	0	0	0	1	0	0	0	3390	1087	38	1	1974	1	CHPF	2	220406861	Missense_Mutation	SNP	G	TCGA-DU-8166-01A-11D-2253-08	11293749	220406861	22792512	6	21392											
SPP2	6694	broad.mit.edu	37	2	234978646	234978646	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chr2:234978646G>T	ENST00000168148.3	+	7	713	c.625G>T	c.(625-627)Gac>Tac	p.D209Y	SPP2_ENST00000373368.1_Missense_Mutation_p.D209Y	NM_006944.2	NP_008875.1	Q13103	SPP24_HUMAN	secreted phosphoprotein 2, 24kDa	209					bone remodeling|skeletal system development	extracellular region	endopeptidase inhibitor activity			breast(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)	12		Breast(86;0.0109)|Renal(207;0.019)|all_lung(227;0.13)|all_hematologic(139;0.182)		Epithelial(121;5.73e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000166)|Lung(119;0.00539)|LUSC - Lung squamous cell carcinoma(224;0.00846)		AATAAATACTGACTTTGAGTA	0.443													3	57					0.0215528	0.0222834	1	1	0	T	234978646	G	T	234978646	3	4	127	1	0	0	0	0	1	0	0	0	15143	1290	45	5	651	5	SPP2	2	234978646	Missense_Mutation	SNP	G	TCGA-DU-8166-01A-11D-2253-08	14571785	234978646	8220727	7	21393											
KIF1A	547	broad.mit.edu	37	2	241683359	241683359	+	Splice_Site	SNP	C	C	T			TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chr2:241683359C>T	ENST00000498729.2	-	33	3830	c.3584G>A	c.(3583-3585)aGc>aAc	p.S1195N	KIF1A_ENST00000320389.7_Splice_Site_p.S1094N	NM_001244008.1	NP_001230937.1	Q12756	KIF1A_HUMAN	kinesin family member 1A	1094					anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		GGGCGCTAACCTGAGCACGTC	0.592													10	75					0	0	1	0	0	T	241683359	C	T	241683359	5	4	127	1	0	0	0	0	0	0	1	0	8325	695	24	2	1859	2	KIF1A	2	241683359	Splice_Site	SNP	C	TCGA-DU-8166-01A-11D-2253-08	6704713	241683359	1516014	8	21394											
CD200	4345	broad.mit.edu	37	3	112054859	112054859	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chr3:112054859T>C	ENST00000473539.1	+	2	139	c.82T>C	c.(82-84)Tac>Cac	p.Y28H	CD200_ENST00000383681.3_Intron|CD200_ENST00000315711.8_Intron	NM_001004196.2	NP_001004196.2	P41217	OX2G_HUMAN	CD200 molecule	0					regulation of immune response	integral to plasma membrane				endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16		Acute lymphoblastic leukemia(4;1.7e-08)|all_hematologic(4;8.82e-05)				CATCAATGATTACCAGGTAAT	0.393													6	107					0	0	1	0	0	C	112054859	T	C	112054859	3	2	127	1	0	0	0	0	1	0	0	0	3002	1754	61	3	88	3	CD200	3	112054859	Missense_Mutation	SNP	T	TCGA-DU-8166-01A-11D-2253-08		112054859	85967571	9	21395											
IGSF10	285313	broad.mit.edu	37	3	151164200	151164201	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chr3:151164200_151164201insT	ENST00000282466.3	-	4	3567_3568	c.3568_3569insA	c.(3568-3570)atgfs	p.M1190fs		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	1190					cell differentiation|multicellular organismal development|ossification	extracellular region		p.M1190K(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TATAATAGTCATTGGTGGCTTG	0.396													20	155	---	---	---	---						T	151164201	-	T	151164200	7	5	127	1	0	1	1	0	0	0	0	0	7641	217	8	0	4362	0	IGSF10	3	151164200	Frame_Shift_Ins	INS	-	TCGA-DU-8166-01A-11D-2253-08	39109341	151164200	46858230	10	21396											
RANBP9	10048	broad.mit.edu	37	6	13711709	13711709	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chr6:13711709G>T	ENST00000011619.3	-	1	87	c.29C>A	c.(28-30)cCg>cAg	p.P10Q		NM_005493.2	NP_005484.2	Q96S59	RANB9_HUMAN	RAN binding protein 9	10	Poly-Pro.				axon guidance|microtubule nucleation|protein complex assembly	cytosol|microtubule associated complex|nucleus	Ran GTPase binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	16	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.117)	Epithelial(50;0.223)			ctgctgctgcggcggcggcgg	0.761													2	5					6.4e-05	6.84912e-05	1	1	0	T	13711709	G	T	13711709	3	4	127	1	0	0	0	0	1	0	0	0	13084	1116	39	5	2216	5	RANBP9	6	13711709	Missense_Mutation	SNP	G	TCGA-DU-8166-01A-11D-2253-08		13711709	157403358	11	21397											
HIST1H3E	8353	broad.mit.edu	37	6	26225733	26225733	+	Silent	SNP	C	C	T			TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chr6:26225733C>T	ENST00000360408.1	+	1	351	c.351C>T	c.(349-351)cgC>cgT	p.R117R		NM_003532.2	NP_003523.1	P68431	H31_HUMAN	histone cluster 1, H3e	117					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			endometrium(1)|large_intestine(1)|lung(5)|skin(1)	8		all_hematologic(11;0.0223)|Acute lymphoblastic leukemia(11;0.0351)				ATGCCAAACGCGTGACCATCA	0.557											OREG0017240	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	105					0	0	1	0	0	T	26225733	C	T	26225733	2	4	127	1	0	0	0	0	0	0	0	1	7200	755	27	1		1	HIST1H3E	6	26225733	Silent	SNP	C	TCGA-DU-8166-01A-11D-2253-08	12514024	26225733	144889334	12	21398											
TRIM15	89870	broad.mit.edu	37	6	30138295	30138295	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chr6:30138295T>C	ENST00000376694.4	+	5	1218	c.749T>C	c.(748-750)tTt>tCt	p.F250S	TRIM15_ENST00000376688.1_Intron	NM_033229.2	NP_150232.2	Q9C019	TRI15_HUMAN	tripartite motif containing 15	250					mesodermal cell fate determination	intracellular	zinc ion binding			large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	14						ATGAAGACTTTTGTGAGTCCT	0.458													7	63					0	0	1	0	0	C	30138295	T	C	30138295	3	2	127	1	0	0	0	0	1	0	0	0	16551	1841	64	3	767	3	TRIM15	6	30138295	Missense_Mutation	SNP	T	TCGA-DU-8166-01A-11D-2253-08	3912562	30138295	140976772	13	21399											
CD109	135228	broad.mit.edu	37	6	74472143	74472143	+	Silent	SNP	G	G	A			TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chr6:74472143G>A	ENST00000437994.2	+	8	1226	c.795G>A	c.(793-795)acG>acA	p.T265T	CD109_ENST00000287097.5_Silent_p.T265T|CD109_ENST00000422508.2_Silent_p.T188T	NM_001159587.1|NM_133493.3	NP_001153059.1|NP_598000.2	Q6YHK3	CD109_HUMAN	CD109 molecule	265						anchored to membrane|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GAGACGTAACGCTTACATTTT	0.294													5	37					0	0	1	0	0	A	74472143	G	A	74472143	2	1	127	1	0	0	0	0	0	0	0	1	2985	1074	38	1		1	CD109	6	74472143	Silent	SNP	G	TCGA-DU-8166-01A-11D-2253-08	44333848	74472143	96642924	14	21400											
ARHGAP18	93663	broad.mit.edu	37	6	129959563	129959563	+	Silent	SNP	A	A	T			TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chr6:129959563A>T	ENST00000368149.2	-	3	616	c.528T>A	c.(526-528)gcT>gcA	p.A176A		NM_033515.2	NP_277050.2	Q8N392	RHG18_HUMAN	Rho GTPase activating protein 18	176					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			NS(2)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(3)	18				OV - Ovarian serous cystadenocarcinoma(136;0.0621)|GBM - Glioblastoma multiforme(226;0.0638)|all cancers(137;0.074)		CTCTCTGTTGAGCAAATATGT	0.388													5	106					0	0	1	0	0	T	129959563	A	T	129959563	2	4	127	1	0	0	0	0	0	0	0	1	865	291	11	5		5	ARHGAP18	6	129959563	Silent	SNP	A	TCGA-DU-8166-01A-11D-2253-08	55487420	129959563	41155504	15	21401											
HEATR2	54919	broad.mit.edu	37	7	780561	780561	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chr7:780561G>A	ENST00000297440.6	+	3	906	c.886G>A	c.(886-888)Gac>Aac	p.D296N	HEATR2_ENST00000438961.1_3'UTR|HEATR2_ENST00000313147.5_Missense_Mutation_p.D296N	NM_017802.3	NP_060272.3	Q86Y56	HEAT2_HUMAN	HEAT repeat containing 2	296							protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(4)|skin(1)	22		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0182)|Epithelial(4;5.48e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.95e-16)|all cancers(6;2.98e-14)		TAGCCTCAACGACGAGGTGCC	0.622													4	122					0	0	1	0	0	A	780561	G	A	780561	3	1	127	1	0	0	0	0	1	0	0	0	7069	1058	37	1	896	1	HEATR2	7	780561	Missense_Mutation	SNP	G	TCGA-DU-8166-01A-11D-2253-08		780561	158358102	16	21402											
DNAH11	8701	broad.mit.edu	37	7	21826380	21826380	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chr7:21826380G>A	ENST00000328843.6	+	60	9788	c.9757G>A	c.(9757-9759)Gga>Aga	p.G3253R	DNAH11_ENST00000409508.3_Missense_Mutation_p.G3246R			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	3253	Stalk (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						AGTCTTCATGGGAAAGGTATC	0.453									Kartagener syndrome				7	247					0	0	1	0	0	A	21826380	G	A	21826380	3	1	127	1	0	0	0	0	1	0	0	0	4627	1233	43	2	9992	2	DNAH11	7	21826380	Missense_Mutation	SNP	G	TCGA-DU-8166-01A-11D-2253-08	21045819	21826380	137312283	17	21403											
WBSCR17	64409	broad.mit.edu	37	7	70886066	70886066	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chr7:70886066G>A	ENST00000333538.5	+	5	1571	c.937G>A	c.(937-939)Gcc>Acc	p.A313T	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	313						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.A313S(1)		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)				CTGGTGGGACGCCGGAGACCC	0.597													10	33					0	0	1	0	0	A	70886066	G	A	70886066	3	1	127	1	0	0	0	0	1	0	0	0	17324	1087	38	1	955	1	WBSCR17	7	70886066	Missense_Mutation	SNP	G	TCGA-DU-8166-01A-11D-2253-08	49059686	70886066	88252597	18	21404											
MUC17	140453	broad.mit.edu	37	7	100683779	100683779	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chr7:100683779C>T	ENST00000306151.4	+	3	9146	c.9082C>T	c.(9082-9084)Cct>Tct	p.P3028S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3028	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CAGTTCCTCTCCTACAACTGC	0.527													9	618					0	0	1	0	0	T	100683779	C	T	100683779	3	4	127	1	0	0	0	0	1	0	0	0	10022	855	30	2	9092	2	MUC17	7	100683779	Missense_Mutation	SNP	C	TCGA-DU-8166-01A-11D-2253-08	29797713	100683779	58454884	19	21405											
PAX4	5078	broad.mit.edu	37	7	127251252	127251252	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chr7:127251252G>A	ENST00000341640.2	-	9	1103	c.898C>T	c.(898-900)Ccc>Tcc	p.P300S	PAX4_ENST00000463946.1_Missense_Mutation_p.P298S|PAX4_ENST00000338516.3_3'UTR|PAX4_ENST00000378740.2_Intron	NM_006193.2	NP_006184.2	O43316	PAX4_HUMAN	paired box 4	311	Transcription repression.				cell differentiation|endocrine pancreas development|organ morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|kidney(2)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						GGCTGTGGGGGCAAGTGGCCT	0.572													3	3					0	0	1	0	0	A	127251252	G	A	127251252	3	1	127	1	0	0	0	0	1	0	0	0	11528	1203	42	2	137	2	PAX4	7	127251252	Missense_Mutation	SNP	G	TCGA-DU-8166-01A-11D-2253-08	26567473	127251252	31887411	20	21406											
SLC39A14	23516	broad.mit.edu	37	8	22273631	22273631	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chr8:22273631C>T	ENST00000381237.1	+	7	1104	c.985C>T	c.(985-987)Cgc>Tgc	p.R329C	SLC39A14_ENST00000289952.5_Missense_Mutation_p.R329C|SLC39A14_ENST00000240095.6_Missense_Mutation_p.R329C|SLC39A14_ENST00000359741.5_Missense_Mutation_p.R329C	NM_001128431.2	NP_001121903.1	Q15043	S39AE_HUMAN	solute carrier family 39 (zinc transporter), member 14	329						endoplasmic reticulum|Golgi apparatus|integral to membrane|lamellipodium|plasma membrane	zinc ion transmembrane transporter activity			NS(1)|endometrium(4)|large_intestine(2)|lung(4)|prostate(1)	12				Colorectal(74;0.019)|COAD - Colon adenocarcinoma(73;0.0731)		GAAAGGTGTCCGCTACTCTGA	0.582													4	66					0	0	1	0	0	T	22273631	C	T	22273631	3	4	127	1	0	0	0	0	1	0	0	0	14672	652	23	1	1181	1	SLC39A14	8	22273631	Missense_Mutation	SNP	C	TCGA-DU-8166-01A-11D-2253-08		22273631	124090391	21	21407											
SEMA4D	10507	broad.mit.edu	37	9	91994102	91994102	+	Silent	SNP	C	C	T			TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chr9:91994102C>T	ENST00000450295.1	-	16	2882	c.2106G>A	c.(2104-2106)gcG>gcA	p.A702A	SEMA4D_ENST00000420987.1_Intron|SEMA4D_ENST00000455551.2_Intron|SEMA4D_ENST00000438547.2_Silent_p.A702A|SEMA4D_ENST00000343780.4_Intron|SEMA4D_ENST00000339861.4_Intron|SEMA4D_ENST00000422704.2_Silent_p.A702A|SEMA4D_ENST00000356444.2_Silent_p.A702A			Q92854	SEM4D_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4D	702					anti-apoptosis|axon guidance|cell adhesion|immune response	integral to membrane|plasma membrane	receptor activity|receptor binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(8)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34						TGCCGGTGGGCGCAGGCTTGG	0.617													4	55					0	0	1	0	0	T	91994102	C	T	91994102	2	4	127	1	0	0	0	0	0	0	0	1	14088	755	27	1		1	SEMA4D	9	91994102	Silent	SNP	C	TCGA-DU-8166-01A-11D-2253-08		91994102	49219329	22	21408											
SLC39A12	221074	broad.mit.edu	37	10	18276464	18276464	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chr10:18276464A>G	ENST00000377369.2	+	7	1426	c.1153A>G	c.(1153-1155)Aca>Gca	p.T385A	SLC39A12_ENST00000539911.1_Missense_Mutation_p.T251A|SLC39A12_ENST00000377374.4_Missense_Mutation_p.T385A|SLC39A12_ENST00000377371.3_Missense_Mutation_p.T385A	NM_001145195.1|NM_001282733.1|NM_001282734.1	NP_001138667.1|NP_001269662.1|NP_001269663.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12	385					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						CATGCTGGGGACAGCGCTGGT	0.557													7	86					0	0	1	0	0	G	18276464	A	G	18276464	3	3	127	1	0	0	0	0	1	0	0	0	14670	275	10	3	1175	3	SLC39A12	10	18276464	Missense_Mutation	SNP	A	TCGA-DU-8166-01A-11D-2253-08		18276464	117258283	23	21409											
OR56A1	120796	broad.mit.edu	37	11	6048480	6048480	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chr11:6048480C>A	ENST00000316650.5	-	1	491	c.455G>T	c.(454-456)aGt>aTt	p.S152I		NM_001001917.2	NP_001001917.2	Q8NGH5	O56A1_HUMAN	olfactory receptor, family 56, subfamily A, member 1	152					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(22)|ovary(2)	33		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AATGAAGACACTAGCTTTGGC	0.493													7	106					0.00621372	0.00653512	1	1	0	A	6048480	C	A	6048480	3	1	127	1	0	0	0	0	1	0	0	0	11181	565	20	4	505	4	OR56A1	11	6048480	Missense_Mutation	SNP	C	TCGA-DU-8166-01A-11D-2253-08		6048480	128958036	24	21410											
PAAF1	80227	broad.mit.edu	37	11	73610227	73610227	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chr11:73610227G>T	ENST00000544909.1	+	3	579	c.322G>T	c.(322-324)Ggt>Tgt	p.G108C	PAAF1_ENST00000535604.1_5'UTR|PAAF1_ENST00000544552.1_Missense_Mutation_p.G90C|PAAF1_ENST00000543079.1_3'UTR|PAAF1_ENST00000310571.3_Missense_Mutation_p.G107C|PAAF1_ENST00000541951.1_5'UTR|PAAF1_ENST00000536003.1_Missense_Mutation_p.G90C|PAAF1_ENST00000376384.5_Missense_Mutation_p.G90C			Q9BRP4	PAAF1_HUMAN	proteasomal ATPase-associated factor 1	107					interspecies interaction between organisms	proteasome complex	protein binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Breast(11;7.42e-05)					AGGAGGTCTTGGTGTGTCTTC	0.388													3	56					2.56e-06	2.78857e-06	1	1	0	T	73610227	G	T	73610227	3	4	127	1	0	0	0	0	1	0	0	0	11409	1348	47	5	337	5	PAAF1	11	73610227	Missense_Mutation	SNP	G	TCGA-DU-8166-01A-11D-2253-08	67561747	73610227	61396289	25	21411											
ARHGAP32	9743	broad.mit.edu	37	11	128840324	128840324	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chr11:128840324C>T	ENST00000310343.9	-	22	4741	c.4742G>A	c.(4741-4743)cGg>cAg	p.R1581Q	ARHGAP32_ENST00000524655.1_3'UTR|ARHGAP32_ENST00000392657.3_Missense_Mutation_p.R1232Q|ARHGAP32_ENST00000527272.1_Missense_Mutation_p.R1232Q	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	1581	Interaction with GAB2.				cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding	p.R1581L(1)|p.R1232L(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						CTGCACTCTCCGGATGGTAGG	0.552													24	60					0	0	1	0	0	T	128840324	C	T	128840324	3	4	127	1	0	0	0	0	1	0	0	0	878	652	23	1	1525	1	ARHGAP32	11	128840324	Missense_Mutation	SNP	C	TCGA-DU-8166-01A-11D-2253-08	55230097	128840324	6166192	26	21412											
LUM	4060	broad.mit.edu	37	12	91502163	91502163	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chr12:91502163T>A	ENST00000266718.4	-	2	1048	c.594A>T	c.(592-594)agA>agT	p.R198S	LUM_ENST00000548071.1_Intron	NM_002345.3	NP_002336.1	P51884	LUM_HUMAN	lumican	198					collagen fibril organization|visual perception	extracellular space|fibrillar collagen	collagen binding|extracellular matrix structural constituent			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24						CAGAAGGCAGTCTGGCTATCT	0.423													8	160					0	0	1	0	0	A	91502163	T	A	91502163	3	1	127	1	0	0	0	0	1	0	0	0	9130	1664	58	5	430	5	LUM	12	91502163	Missense_Mutation	SNP	T	TCGA-DU-8166-01A-11D-2253-08		91502163	42349732	27	21413											
ASCL4	121549	broad.mit.edu	37	12	108169421	108169421	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chr12:108169421delC	ENST00000342331.4	+	1	1260	c.429delC	c.(427-429)gtcfs	p.V143fs		NM_203436.2	NP_982260.2	Q6XD76	ASCL4_HUMAN	achaete-scute family bHLH transcription factor 4	142					regulation of transcription from RNA polymerase II promoter|skin development|transcription, DNA-dependent	nucleus	DNA binding			breast(2)|central_nervous_system(1)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1)	13						CCGGCGCCGTCCCCCAGCGCA	0.721													2	4	---	---	---	---						-	108169421	C	-	108169421	7	5	127	1	0	1	0	1	0	0	0	0	1035	842	30	0	431	0	ASCL4	12	108169421	Frame_Shift_Del	DEL	C	TCGA-DU-8166-01A-11D-2253-08	16667258	108169421	25682474	28	21414											
GPR180	160897	broad.mit.edu	37	13	95275437	95275437	+	Silent	SNP	G	G	C			TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chr13:95275437G>C	ENST00000376958.4	+	7	994	c.969G>C	c.(967-969)ggG>ggC	p.G323G		NM_180989.5	NP_851320.1	Q86V85	GP180_HUMAN	G protein-coupled receptor 180	323						integral to membrane				breast(1)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	10	all_neural(89;0.0684)|Medulloblastoma(90;0.163)					ACTTAGCAGGGATCCTCCTAA	0.388													19	161					0	0	1	0	0	C	95275437	G	C	95275437	2	2	127	1	0	0	0	0	0	0	0	1	6716	1161	41	5		5	GPR180	13	95275437	Silent	SNP	G	TCGA-DU-8166-01A-11D-2253-08		95275437	19894441	29	21415											
OR11H12	440153	broad.mit.edu	37	14	19378063	19378063	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chr14:19378063delC	ENST00000550708.1	+	1	542	c.470delC	c.(469-471)gccfs	p.A157fs		NM_001013354.1|NM_001197287.1	NP_001013372.1|NP_001184216.1	B2RN74	O11HC_HUMAN	olfactory receptor, family 11, subfamily H, member 12	157					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A157D(1)		NS(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CATCTCTGTGCCAAACTGGTC	0.468													11	621	---	---	---	---						-	19378063	C	-	19378063	7	5	127	1	0	1	0	1	0	0	0	0	10975	739	26	0	472	0	OR11H12	14	19378063	Frame_Shift_Del	DEL	C	TCGA-DU-8166-01A-11D-2253-08		19378063	87971477	30	21416											
RPGRIP1	57096	broad.mit.edu	37	14	21770676	21770676	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chr14:21770676C>G	ENST00000206660.6	+	4	520	c.520C>G	c.(520-522)Cct>Gct	p.P174A	RPGRIP1_ENST00000556336.1_Missense_Mutation_p.P174A|RPGRIP1_ENST00000557771.1_Missense_Mutation_p.P174A|RPGRIP1_ENST00000400017.2_Missense_Mutation_p.P174A			Q96KN7	RPGR1_HUMAN	retinitis pigmentosa GTPase regulator interacting protein 1	174					response to stimulus|visual perception	cilium				breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		CTACACAGCCCCTCCATCGTT	0.468													2	10					0	0	1	0	0	G	21770676	C	G	21770676	3	3	127	1	0	0	0	0	1	0	0	0	13601	623	22	5	534	5	RPGRIP1	14	21770676	Missense_Mutation	SNP	C	TCGA-DU-8166-01A-11D-2253-08	2392613	21770676	85578864	31	21417											
PTPN21	11099	broad.mit.edu	37	14	88946264	88946264	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chr14:88946264G>A	ENST00000556564.1	-	13	1795	c.1511C>T	c.(1510-1512)tCg>tTg	p.S504L	PTPN21_ENST00000328736.3_Missense_Mutation_p.S504L	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type 21	504						cytoplasm|cytoskeleton	binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						GGCCGCTGGCGAGGGGAGCTG	0.701													4	86					0	0	1	0	0	A	88946264	G	A	88946264	3	1	127	1	0	0	0	0	1	0	0	0	12838	1059	37	1	2041	1	PTPN21	14	88946264	Missense_Mutation	SNP	G	TCGA-DU-8166-01A-11D-2253-08	67175588	88946264	18403276	32	21418											
VPS18	57617	broad.mit.edu	37	15	41193044	41193044	+	Silent	SNP	G	G	A			TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chr15:41193044G>A	ENST00000220509.5	+	4	2367	c.2028G>A	c.(2026-2028)ccG>ccA	p.P676P	VPS18_ENST00000558474.1_Intron	NM_020857.2	NP_065908.1	Q9P253	VPS18_HUMAN	vacuolar protein sorting 18 homolog (S. cerevisiae)	676					endosome organization|lysosome organization|protein transport	HOPS complex|late endosome membrane|lysosomal membrane	metal ion binding|protein binding			autonomic_ganglia(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	28		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)		GTGGCCGGCCGGACTCACTAC	0.647													4	145					0	0	1	0	0	A	41193044	G	A	41193044	2	1	127	1	0	0	0	0	0	0	0	1	17254	1103	39	1		1	VPS18	15	41193044	Silent	SNP	G	TCGA-DU-8166-01A-11D-2253-08		41193044	61338348	33	21419											
IGF1R	3480	broad.mit.edu	37	15	99456347	99456347	+	Missense_Mutation	SNP	A	A	G	rs45481994		TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chr15:99456347A>G	ENST00000268035.6	+	8	2275	c.1664A>G	c.(1663-1665)gAc>gGc	p.D555G	IGF1R_ENST00000558762.1_Missense_Mutation_p.D555G	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	555	Fibronectin type-III 1.				anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)	GTGGACGTGGACCTCCCGCCC	0.537													4	43					0	0	1	0	0	G	99456347	A	G	99456347	3	3	127	1	0	0	0	0	1	0	0	0	7615	275	10	3	1694	3	IGF1R	15	99456347	Missense_Mutation	SNP	A	TCGA-DU-8166-01A-11D-2253-08	58263303	99456347	3075045	34	21420											
SLC9A5	6553	broad.mit.edu	37	16	67304913	67304913	+	Silent	SNP	C	C	T			TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chr16:67304913C>T	ENST00000299798.11	+	16	2556	c.2491C>T	c.(2491-2493)Cta>Tta	p.L831L		NM_004594.2	NP_004585.1	Q14940	SL9A5_HUMAN	solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5	831					regulation of pH	integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)		CCCTCTCCACCTACCTTCTGA	0.657													16	42					0	0	1	0	0	T	67304913	C	T	67304913	2	4	127	1	0	0	0	0	0	0	0	1	14772	680	24	2		2	SLC9A5	16	67304913	Silent	SNP	C	TCGA-DU-8166-01A-11D-2253-08		67304913	23049840	35	21421											
TP53	7157	broad.mit.edu	37	17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	rs121913343		TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chr17:7577121G>A	ENST00000420246.2	-	8	949	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000269305.4_Missense_Mutation_p.R273C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	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).		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.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			19	3					0	0	1	0	0	A	7577121	G	A	7577121	3	1	127	1	0	0	0	0	1	0	0	0	16442	1087	38	1	469	1	TP53	17	7577121	Missense_Mutation	SNP	G	TCGA-DU-8166-01A-11D-2253-08		7577121	73618089	36	21422											
NCOR1	9611	broad.mit.edu	37	17	15943763	15943763	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chr17:15943763G>C	ENST00000268712.3	-	43	6982	c.6725C>G	c.(6724-6726)aCt>aGt	p.T2242S	AC002553.1_ENST00000442828.1_Intron|NCOR1_ENST00000395857.3_Missense_Mutation_p.T826S|NCOR1_ENST00000395851.1_Missense_Mutation_p.T2139S	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	2242	ID2 (By similarity).|Interaction with C1D (By similarity).				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		ACCTGACGTAGTAACTGCTGG	0.358													3	51					0	0	1	0	0	C	15943763	G	C	15943763	3	2	127	1	0	0	0	0	1	0	0	0	10282	1029	36	4	613	4	NCOR1	17	15943763	Missense_Mutation	SNP	G	TCGA-DU-8166-01A-11D-2253-08	8366642	15943763	65251447	37	21423											
MYO15A	51168	broad.mit.edu	37	17	18064731	18064731	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chr17:18064731G>A	ENST00000205890.5	+	57	9825	c.9487G>A	c.(9487-9489)Gtg>Atg	p.V3163M	MYO15A_ENST00000451725.2_Missense_Mutation_p.V55M|MYO15A_ENST00000418233.3_Missense_Mutation_p.V427M	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	3163	MyTH4 2.|Tail.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					CCTCCAAGACGTGAGCCGGAC	0.632													12	130					0	0	1	0	0	A	18064731	G	A	18064731	3	1	127	1	0	0	0	0	1	0	0	0	10111	1145	40	1	9705	1	MYO15A	17	18064731	Missense_Mutation	SNP	G	TCGA-DU-8166-01A-11D-2253-08	2120968	18064731	63130479	38	21424											
PIAS4	51588	broad.mit.edu	37	19	4012979	4012979	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chr19:4012979G>A	ENST00000262971.2	+	2	201	c.86G>A	c.(85-87)cGg>cAg	p.R29Q		NM_015897.2	NP_056981.2	Q8N2W9	PIAS4_HUMAN	protein inhibitor of activated STAT, 4	29	SAP.				positive regulation of protein sumoylation|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|PML body	DNA binding|SUMO ligase activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(3)	17				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		TTCGTGGGCCGGAGTAAGAGT	0.552													3	87					0	0	1	0	0	A	4012979	G	A	4012979	3	1	127	1	0	0	0	0	1	0	0	0	11926	1116	39	1	92	1	PIAS4	19	4012979	Missense_Mutation	SNP	G	TCGA-DU-8166-01A-11D-2253-08		4012979	55116004	39	21425											
SIN3B	23309	broad.mit.edu	37	19	16973238	16973238	+	Silent	SNP	C	C	T	rs150062565	byFrequency	TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chr19:16973238C>T	ENST00000379803.1	+	9	1148	c.1134C>T	c.(1132-1134)agC>agT	p.S378S	SIN3B_ENST00000248054.5_Silent_p.S378S	NM_015260.2	NP_056075.1	O75182	SIN3B_HUMAN	SIN3 transcription regulator family member B	378	Interaction with NCOR1 (By similarity).				cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	protein binding			endometrium(4)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26						CACCCATGAGCGACAGATCCG	0.517													4	95					0	0	1	0	0	T	16973238	C	T	16973238	2	4	127	1	0	0	0	0	0	0	0	1	14381	767	27	1		1	SIN3B	19	16973238	Silent	SNP	C	TCGA-DU-8166-01A-11D-2253-08	12960259	16973238	42155745	40	21426											
ZNF567	163081	broad.mit.edu	37	19	37210750	37210750	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chr19:37210750G>A	ENST00000585696.1	+	3	2261	c.1031G>A	c.(1030-1032)cGc>cAc	p.R344H	ZNF567_ENST00000392163.2_Missense_Mutation_p.R344H|ZNF567_ENST00000360729.4_Missense_Mutation_p.R344H|ZNF567_ENST00000588311.1_Missense_Mutation_p.R344H|ZNF850_ENST00000589390.1_Intron|ZNF567_ENST00000536254.2_Missense_Mutation_p.R375H			Q8N184	ZN567_HUMAN	zinc finger protein 567	375					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			AAGTCCTTCCGCCAGAAGACA	0.443													6	75					0	0	1	0	0	A	37210750	G	A	37210750	3	1	127	1	0	0	0	0	1	0	0	0	18055	1087	38	1	1041	1	ZNF567	19	37210750	Missense_Mutation	SNP	G	TCGA-DU-8166-01A-11D-2253-08	20237512	37210750	21918233	41	21427											
TPRX1	284355	broad.mit.edu	37	19	48305133	48305133	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chr19:48305133C>T	ENST00000535759.1	-	4	1425	c.1426G>A	c.(1426-1428)Gat>Aat	p.D476N	TPRX1_ENST00000543508.1_Missense_Mutation_p.D369N|TPRX1_ENST00000322175.3_Missense_Mutation_p.D379N			Q8N7U7	TPRX1_HUMAN	tetra-peptide repeat homeobox 1	379						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(5)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|skin(1)	18		all_cancers(25;3.02e-09)|all_epithelial(76;7e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)		OV - Ovarian serous cystadenocarcinoma(262;0.000241)|all cancers(93;0.00036)|Epithelial(262;0.0127)|GBM - Glioblastoma multiforme(486;0.048)		ATAGAGTCATCCCCTTCTTGG	0.512													12	158					0	0	1	0	0	T	48305133	C	T	48305133	3	4	127	1	0	0	0	0	1	0	0	0	16483	855	30	2	104	2	TPRX1	19	48305133	Missense_Mutation	SNP	C	TCGA-DU-8166-01A-11D-2253-08	11094383	48305133	10823850	42	21428											
TTLL9	164395	broad.mit.edu	37	20	30486368	30486368	+	Splice_Site	SNP	A	A	C			TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chr20:30486368A>C	ENST00000375938.4	+	4	459	c.206A>C	c.(205-207)gAc>gCc	p.D69A	TTLL9_ENST00000535842.1_Splice_Site_p.D69A|TTLL9_ENST00000375921.2_Splice_Site_p.D19A|TTLL9_ENST00000310998.4_Splice_Site_p.D19A|TTLL9_ENST00000375922.4_Splice_Site_p.D19A|TTLL9_ENST00000375934.4_Splice_Site_p.D51A			Q3SXZ7	TTLL9_HUMAN	tubulin tyrosine ligase-like family, member 9	69	TTL.				protein modification process	cilium|microtubule|microtubule basal body	ATP binding|tubulin-tyrosine ligase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	26			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			GAAGTGAAGGAGTAAGACCCT	0.562													23	35					0	0	1	0	0	C	30486368	A	C	30486368	5	2	127	1	0	0	0	0	0	0	1	0	16796	318	11	5	216	5	TTLL9	20	30486368	Splice_Site	SNP	A	TCGA-DU-8166-01A-11D-2253-08		30486368	32539152	43	21429											
GGT1	2678	broad.mit.edu	37	22	25016936	25016936	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chr22:25016936C>T	ENST00000400382.1	+	9	1387	c.632C>T	c.(631-633)cCg>cTg	p.P211L	GGT1_ENST00000400383.1_Missense_Mutation_p.P211L|GGT1_ENST00000248923.4_Missense_Mutation_p.P211L|GGT1_ENST00000406383.2_Missense_Mutation_p.P211L|GGT1_ENST00000400380.1_Missense_Mutation_p.P211L|GGT1_ENST00000466310.1_Intron			P19440	GGT1_HUMAN	gamma-glutamyltransferase 1	211					glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity|protein binding			breast(1)|endometrium(2)|kidney(14)|large_intestine(2)|lung(6)|pancreas(1)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	40					Glutathione(DB00143)	CTGACCCTGCCGCAGCTGGCT	0.647													3	50					0	0	1	0	0	T	25016936	C	T	25016936	3	4	127	1	0	0	0	0	1	0	0	0	6403	652	23	1	650	1	GGT1	22	25016936	Missense_Mutation	SNP	C	TCGA-DU-8166-01A-11D-2253-08		25016936	26287630	44	21430											
SEZ6L	23544	broad.mit.edu	37	22	26707829	26707829	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chr22:26707829A>G	ENST00000529632.2	+	8	1973	c.1777A>G	c.(1777-1779)Acc>Gcc	p.T593A	SEZ6L_ENST00000402979.1_Missense_Mutation_p.T366A|SEZ6L_ENST00000404234.3_Missense_Mutation_p.T593A|SEZ6L_ENST00000343706.4_Missense_Mutation_p.T593A|SEZ6L_ENST00000248933.6_Missense_Mutation_p.T593A|SEZ6L_ENST00000360929.3_Missense_Mutation_p.T593A|SEZ6L_ENST00000403121.1_Missense_Mutation_p.T366A	NM_001184774.1|NM_001184775.1|NM_001184777.1	NP_001171703.1|NP_001171704.1|NP_001171706.1	Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	593	Sushi 2.					endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						AGTGGAGTTCACCTGCGACCC	0.562													84	170					0	0	1	0	0	G	26707829	A	G	26707829	3	3	127	1	0	0	0	0	1	0	0	0	14197	159	6	3	1807	3	SEZ6L	22	26707829	Missense_Mutation	SNP	A	TCGA-DU-8166-01A-11D-2253-08	1690893	26707829	24596737	45	21431											
TUBGCP6	85378	broad.mit.edu	37	22	50659212	50659212	+	Silent	SNP	A	A	G	rs141527317		TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chr22:50659212A>G	ENST00000439308.2	-	16	4068	c.3576T>C	c.(3574-3576)tcT>tcC	p.S1192S	TUBGCP6_ENST00000248846.5_Silent_p.S1192S|TUBGCP6_ENST00000491449.1_5'UTR	NM_020461.3	NP_065194.2	Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	1192	9 X 27 AA tandem repeats.				G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		TGCTGGCATCAGACACGTGTC	0.617													4	114					0	0	1	0	0	G	50659212	A	G	50659212	2	3	127	1	0	0	0	0	0	0	0	1	16832	175	7	3		3	TUBGCP6	22	50659212	Silent	SNP	A	TCGA-DU-8166-01A-11D-2253-08	23951383	50659212	645354	46	21432											
WWC3	55841	broad.mit.edu	37	X	10090693	10090693	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chrX:10090693G>T	ENST00000380861.4	+	12	2056	c.1665G>T	c.(1663-1665)ttG>ttT	p.L555F	WWC3_ENST00000454666.1_Missense_Mutation_p.L555F	NM_015691.3	NP_056506.2	Q9ULE0	WWC3_HUMAN	WWC family member 3	555										NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						CCAAGAGGTTGGAGAGGAGGG	0.552													17	478					3.51602e-12	4.04674e-12	1	1	0	T	10090693	G	T	10090693	3	4	127	1	0	0	0	0	1	0	0	0	17473	1339	47	5	1707	5	WWC3	23	10090693	Missense_Mutation	SNP	G	TCGA-DU-8166-01A-11D-2253-08		10090693	145179867	47	21433											
ZNF41	7592	broad.mit.edu	37	X	47315320	47315320	+	Splice_Site	SNP	C	C	A			TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chrX:47315320C>A	ENST00000377065.4	-	4	934	c.295G>T	c.(295-297)Ggt>Tgt	p.G99C	ZNF41_ENST00000313116.7_Splice_Site_p.G99C|ZNF41_ENST00000465311.1_5'UTR|ZNF41_ENST00000397050.2_Splice_Site_p.G109C	NM_153380.2	NP_700359.1	P51814	ZNF41_HUMAN	zinc finger protein 41	141	KRAB.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|upper_aerodigestive_tract(2)	24		all_lung(315;0.000129)				GCTCACTCACCTGAACAGCTC	0.522													8	74					0.0477658	0.0485619	1	1	0	A	47315320	C	A	47315320	5	1	127	1	0	0	0	0	0	0	1	0	17946	695	24	4	2052	4	ZNF41	23	47315320	Splice_Site	SNP	C	TCGA-DU-8166-01A-11D-2253-08	37224627	47315320	107955240	48	21434											
ATRX	546	broad.mit.edu	37	X	76940087	76940087	+	Splice_Site	SNP	T	T	C			TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chrX:76940087T>C	ENST00000373344.5	-	9	877		c.e9-2		ATRX_ENST00000480283.1_Splice_Site|ATRX_ENST00000395603.3_Splice_Site	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked						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)	GCACACCACCTGAAATGTTTT	0.333			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						44	94					0	0	1	0	0	C	76940087	T	C	76940087	5	2	127	1	0	0	0	0	0	0	1	0	1206	1594	55	3	6925	3	ATRX	23	76940087	Splice_Site	SNP	T	TCGA-DU-8166-01A-11D-2253-08	29624767	76940087	78330473	49	21435											
CXorf48	54967	broad.mit.edu	37	X	134303695	134303695	+	Silent	SNP	G	G	C			TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chrX:134303695G>C	ENST00000344129.2	-	2	328	c.102C>G	c.(100-102)acC>acG	p.T34T	CXorf48_ENST00000276241.6_Silent_p.T34T	NM_017863.2	NP_060333.1	Q8WUE5	CX048_HUMAN	chromosome X open reading frame 48	34										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)	5	Acute lymphoblastic leukemia(192;0.000127)					TTGTCAACTGGGTGTCACCTA	0.433													16	31					0	0	1	0	0	C	134303695	G	C	134303695	2	2	127	1	0	0	0	0	0	0	0	1	4134	1219	43	5		5	CXorf48	23	134303695	Silent	SNP	G	TCGA-DU-8166-01A-11D-2253-08	57363608	134303695	20966865	50	21436											
MCF2	4168	broad.mit.edu	37	X	138689854	138689854	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chrX:138689854T>G	ENST00000520602.1	-	15	1951	c.1666A>C	c.(1666-1668)Aag>Cag	p.K556Q	MCF2_ENST00000483690.1_5'UTR|MCF2_ENST00000519895.1_Missense_Mutation_p.K572Q|MCF2_ENST00000414978.1_Missense_Mutation_p.K556Q|MCF2_ENST00000536274.1_Missense_Mutation_p.K457Q|MCF2_ENST00000370576.4_Missense_Mutation_p.K496Q|MCF2_ENST00000338585.6_Missense_Mutation_p.K512Q|MCF2_ENST00000370573.4_Missense_Mutation_p.K496Q|MCF2_ENST00000370578.4_Missense_Mutation_p.K641Q			P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence	496	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|membrane|membrane fraction	protein binding|Rho guanyl-nucleotide exchange factor activity			NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62	Acute lymphoblastic leukemia(192;0.000127)					GGATACTTCTTTAAAACATCC	0.373													4	53					0	0	1	0	0	G	138689854	T	G	138689854	3	3	127	1	0	0	0	0	1	0	0	0	9428	1850	64	5	1375	5	MCF2	23	138689854	Missense_Mutation	SNP	T	TCGA-DU-8166-01A-11D-2253-08	4386159	138689854	16580706	51	21437											
HSPG2	3339	broad.mit.edu	37	1	22162039	22162039	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr1:22162039T>C	ENST00000374695.3	-	76	10526	c.10447A>G	c.(10447-10449)Atc>Gtc	p.I3483V		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	3483	Ig-like C2-type 20.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	CTACCTTGGATAACCAGCTGG	0.562													9	29					0	0	1	0	0	C	22162039	T	C	22162039	3	2	128	1	0	0	0	0	1	0	0	0	7474	1406	49	3	2816	3	HSPG2	1	22162039	Missense_Mutation	SNP	T	TCGA-DU-8167-01A-11D-2253-08		22162039	227088582	1	21438											
SEPN1	57190	broad.mit.edu	37	1	26135530	26135530	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr1:26135530G>A	ENST00000361547.2	+	6	816	c.761G>A	c.(760-762)cGg>cAg	p.R254Q	SEPN1_ENST00000374315.1_Missense_Mutation_p.R220Q|SEPN1_ENST00000354177.4_Missense_Mutation_p.R220Q	NM_020451.2	NP_065184.2	Q9NZV5	SELN_HUMAN	selenoprotein N, 1	254						endoplasmic reticulum membrane|extracellular region	protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;0.00038)|all_lung(284;0.00051)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0421)|OV - Ovarian serous cystadenocarcinoma(117;1.26e-25)|Colorectal(126;3.01e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0143)|READ - Rectum adenocarcinoma(331;0.0649)		ATCATCCACCGGCTCCTGAGC	0.667													16	106					0	0	1	0	0	A	26135530	G	A	26135530	3	1	128	1	0	0	0	0	1	0	0	0	14110	1116	39	1	783	1	SEPN1	1	26135530	Missense_Mutation	SNP	G	TCGA-DU-8167-01A-11D-2253-08	3973491	26135530	223115091	2	21439											
PHACTR4	65979	broad.mit.edu	37	1	28793239	28793239	+	Silent	SNP	T	T	C	rs34628351		TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr1:28793239T>C	ENST00000373839.3	+	6	1044	c.783T>C	c.(781-783)ccT>ccC	p.P261P	PHACTR4_ENST00000373836.3_Silent_p.P271P|PHACTR4_ENST00000493669.1_3'UTR	NM_001048183.1	NP_001041648.1	Q8IZ21	PHAR4_HUMAN	phosphatase and actin regulator 4	261	Pro-rich.						actin binding|protein phosphatase inhibitor activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649)		CCCCTATCCCTCCCCCTAAAC	0.517													3	150					0	0	1	0	0	C	28793239	T	C	28793239	2	2	128	1	0	0	0	0	0	0	0	1	11860	1538	54	3		3	PHACTR4	1	28793239	Silent	SNP	T	TCGA-DU-8167-01A-11D-2253-08	2657709	28793239	220457382	3	21440											
PALMD	54873	broad.mit.edu	37	1	100133315	100133315	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr1:100133315A>G	ENST00000263174.4	+	3	619	c.244A>G	c.(244-246)Atc>Gtc	p.I82V	PALMD_ENST00000605497.1_Missense_Mutation_p.I82V	NM_017734.4	NP_060204.1	Q9NP74	PALMD_HUMAN	palmdelphin	82					regulation of cell shape	cytoplasm|membrane				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(6)|pancreas(1)|prostate(2)	31		all_epithelial(167;0.000813)|all_lung(203;0.0214)|Lung NSC(277;0.0216)		Epithelial(280;0.067)|all cancers(265;0.117)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)		AGAACAAAGTATCCTCAGGTA	0.433													12	139					0	0	1	0	0	G	100133315	A	G	100133315	3	3	128	1	0	0	0	0	1	0	0	0	11458	449	16	3	254	3	PALMD	1	100133315	Missense_Mutation	SNP	A	TCGA-DU-8167-01A-11D-2253-08	71340076	100133315	149117306	4	21441											
SLC25A24	29957	broad.mit.edu	37	1	108735257	108735257	+	Translation_Start_Site	SNP	C	C	A			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr1:108735257C>A	ENST00000370041.4	-	0	183				SLC25A24_ENST00000565488.1_Intron	NM_213651.2	NP_998816.1	Q6NUK1	SCMC1_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 24						transmembrane transport	integral to membrane|mitochondrial inner membrane	calcium ion binding			endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	16		all_epithelial(167;3.72e-05)|all_lung(203;0.000567)|Lung NSC(277;0.0011)|Melanoma(281;0.211)		Colorectal(144;0.0345)|Lung(183;0.0971)|COAD - Colon adenocarcinoma(174;0.127)|Epithelial(280;0.134)		GGATGTCTCCCTCGCAGCTCC	0.582													6	273					0.000157383	0.000165175	1	1	0	A	108735257	C	A	108735257	1	1	128	1	0	0	0	0	0	0	0	0	14542	696	24	4		4	SLC25A24	1	108735257	Translation_Start_Site	SNP	C	TCGA-DU-8167-01A-11D-2253-08	8601942	108735257	140515364	5	21442											
ADAM30	11085	broad.mit.edu	37	1	120438457	120438457	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr1:120438457C>G	ENST00000369400.1	-	1	661	c.503G>C	c.(502-504)gGg>gCg	p.G168A		NM_021794.3	NP_068566.2	Q9UKF2	ADA30_HUMAN	ADAM metallopeptidase domain 30	168					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		AACCTGATTCCCAAACTGCTC	0.438													36	49					0	0	1	0	0	G	120438457	C	G	120438457	3	3	128	1	0	0	0	0	1	0	0	0	247	623	22	5	1873	5	ADAM30	1	120438457	Missense_Mutation	SNP	C	TCGA-DU-8167-01A-11D-2253-08	11703200	120438457	128812164	6	21443											
NPR1	4881	broad.mit.edu	37	1	153659546	153659546	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr1:153659546A>G	ENST00000368680.3	+	12	2390	c.1918A>G	c.(1918-1920)Acc>Gcc	p.T640A		NM_000906.3	NP_000897.3	P16066	ANPRA_HUMAN	natriuretic peptide receptor A/guanylate cyclase A (atrionatriuretic peptide receptor A)	640	Protein kinase.				body fluid secretion|intracellular signal transduction|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation		ATP binding|GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|peptide receptor activity, G-protein coupled|protein kinase activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)		Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Nesiritide(DB04899)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)|Nitroprusside(DB00325)	GTACTCACTCACCAATGACAT	0.562													5	106					0	0	1	0	0	G	153659546	A	G	153659546	3	3	128	1	0	0	0	0	1	0	0	0	10642	159	6	3	1964	3	NPR1	1	153659546	Missense_Mutation	SNP	A	TCGA-DU-8167-01A-11D-2253-08	33221089	153659546	95591075	7	21444											
KMO	8564	broad.mit.edu	37	1	241749983	241749983	+	Silent	SNP	C	C	G			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr1:241749983C>G	ENST00000366559.4	+	11	1271	c.960C>G	c.(958-960)ggC>ggG	p.G320G	KMO_ENST00000366558.3_Silent_p.G320G|KMO_ENST00000366557.4_Silent_p.G320G	NM_003679.4	NP_003670.2	O15229	KMO_HUMAN	kynurenine 3-monooxygenase (kynurenine 3-hydroxylase)	320					pyridine nucleotide biosynthetic process|response to salt stress	cytosol|integral to membrane|mitochondrial outer membrane	electron carrier activity|flavin adenine dinucleotide binding|kynurenine 3-monooxygenase activity|NAD(P)H oxidase activity			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)	33	Ovarian(103;0.103)|all_lung(81;0.23)		OV - Ovarian serous cystadenocarcinoma(106;0.0176)			tgtttCAGGGCTTTGAAGACT	0.303													3	87					0	0	1	0	0	G	241749983	C	G	241749983	2	3	128	1	0	0	0	0	0	0	0	1	8467	784	28	4		4	KMO	1	241749983	Silent	SNP	C	TCGA-DU-8167-01A-11D-2253-08	88090437	241749983	7500638	8	21445											
OR2G3	81469	broad.mit.edu	37	1	247769424	247769424	+	Silent	SNP	C	C	T	rs144392521		TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr1:247769424C>T	ENST00000320002.2	+	1	569	c.537C>T	c.(535-537)tgC>tgT	p.C179C	RP11-978I15.10_ENST00000446347.1_RNA|RP11-978I15.10_ENST00000435333.1_RNA	NM_001001914.1	NP_001001914.1	Q8NGZ4	OR2G3_HUMAN	olfactory receptor, family 2, subfamily G, member 3	179					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(31)|skin(5)	50	all_cancers(71;3.24e-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)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			ATTTTATTTGCGAAGTACCAG	0.453													15	75					0	0	1	0	0	T	247769424	C	T	247769424	2	4	128	1	0	0	0	0	0	0	0	1	11047	776	27	1		1	OR2G3	1	247769424	Silent	SNP	C	TCGA-DU-8167-01A-11D-2253-08	6019441	247769424	1481197	9	21446											
APOB	338	broad.mit.edu	37	2	21250764	21250764	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr2:21250764G>A	ENST00000233242.1	-	14	2130	c.2003C>T	c.(2002-2004)cCt>cTt	p.P668L	APOB_ENST00000399256.4_Missense_Mutation_p.P668L	NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	668	Vitellogenin.				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	GCTTTCTTTAGGAAGGTAGTT	0.418													17	62					0	0	1	0	0	A	21250764	G	A	21250764	3	1	128	1	0	0	0	0	1	0	0	0	782	1000	35	2	11752	2	APOB	2	21250764	Missense_Mutation	SNP	G	TCGA-DU-8167-01A-11D-2253-08		21250764	221948609	10	21447											
C2orf71	388939	broad.mit.edu	37	2	29287763	29287763	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr2:29287763G>A	ENST00000331664.5	-	2	3838	c.3839C>T	c.(3838-3840)gCg>gTg	p.A1280V		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	1280					response to stimulus|visual perception	photoreceptor outer segment				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						CTGGGGCTGCGCCTCTGGCTG	0.657													14	30					0	0	1	0	0	A	29287763	G	A	29287763	3	1	128	1	0	0	0	0	1	0	0	0	2205	1087	38	1	31	1	C2orf71	2	29287763	Missense_Mutation	SNP	G	TCGA-DU-8167-01A-11D-2253-08	8036999	29287763	213911610	11	21448											
PLA2R1	22925	broad.mit.edu	37	2	160832717	160832717	+	Silent	SNP	A	A	G			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr2:160832717A>G	ENST00000283243.7	-	17	2663	c.2457T>C	c.(2455-2457)taT>taC	p.Y819Y	PLA2R1_ENST00000392771.1_Silent_p.Y819Y	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1, 180kDa	819	C-type lectin 5.				endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						CTGCATCCTGATAAAAGAGCC	0.383													11	24					0	0	1	0	0	G	160832717	A	G	160832717	2	3	128	1	0	0	0	0	0	0	0	1	12058	340	12	3		3	PLA2R1	2	160832717	Silent	SNP	A	TCGA-DU-8167-01A-11D-2253-08	131544954	160832717	82366656	12	21449											
ITGA4	3676	broad.mit.edu	37	2	182339701	182339701	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr2:182339701G>C	ENST00000397033.2	+	3	764	c.334G>C	c.(334-336)Gaa>Caa	p.E112Q	ITGA4_ENST00000339307.4_Missense_Mutation_p.E112Q|ITGA4_ENST00000478440.1_3'UTR	NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	112					blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	CCCTAATGGAGAACCTTGTGG	0.403													3	59					0	0	1	0	0	C	182339701	G	C	182339701	3	2	128	1	0	0	0	0	1	0	0	0	7922	943	33	4	344	4	ITGA4	2	182339701	Missense_Mutation	SNP	G	TCGA-DU-8167-01A-11D-2253-08	21506984	182339701	60859672	13	21450											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	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	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								37	68					0	0	1	0	0	T	209113112	C	T	209113112	3	4	128	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-DU-8167-01A-11D-2253-08	26773411	209113112	34086261	14	21451											
TMPRSS11E	28983	broad.mit.edu	37	4	69343128	69343128	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr4:69343128C>A	ENST00000305363.4	+	8	813	c.749C>A	c.(748-750)aCa>aAa	p.T250K		NM_014058.3	NP_054777.2	Q9UL52	TM11E_HUMAN	transmembrane protease, serine 11E	250	Peptidase S1.				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity	p.T250I(2)		endometrium(1)|lung(19)|pancreas(1)|skin(3)	24						TTTGGAGTAACAATAAAACCT	0.368													33	202					3.90053e-15	4.17632e-15	1	1	0	A	69343128	C	A	69343128	3	1	128	1	0	0	0	0	1	0	0	0	16302	478	17	5	779	5	TMPRSS11E	4	69343128	Missense_Mutation	SNP	C	TCGA-DU-8167-01A-11D-2253-08		69343128	121811148	15	21452											
IGJ	3512	broad.mit.edu	37	4	71522083	71522083	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr4:71522083T>C	ENST00000254801.4	-	4	612	c.443A>G	c.(442-444)gAa>gGa	p.E148G	IGJ_ENST00000543780.1_Missense_Mutation_p.E164G|ENAM_ENST00000472903.1_Intron	NM_144646.3	NP_653247.1	P01591	IGJ_HUMAN	immunoglobulin J polypeptide, linker protein for immunoglobulin alpha and mu polypeptides	148					immune response	extracellular region	antigen binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7			Lung(101;0.235)			TAAGGCTGTTTCCACCATTTT	0.448													12	70					0	0	1	0	0	C	71522083	T	C	71522083	3	2	128	1	0	0	0	0	1	0	0	0	7636	1783	62	3	40	3	IGJ	4	71522083	Missense_Mutation	SNP	T	TCGA-DU-8167-01A-11D-2253-08	2178955	71522083	119632193	16	21453											
MFSD8	256471	broad.mit.edu	37	4	128851943	128851943	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr4:128851943T>C	ENST00000296468.3	-	10	1020	c.893A>G	c.(892-894)tAt>tGt	p.Y298C	MFSD8_ENST00000515130.1_5'UTR|MFSD8_ENST00000541133.1_3'UTR|MFSD8_ENST00000513559.1_Missense_Mutation_p.Y253C	NM_152778.2	NP_689991.1	Q8NHS3	MFSD8_HUMAN	major facilitator superfamily domain containing 8	298					cell death|transmembrane transport	integral to membrane|lysosomal membrane				cervix(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)	23						AGTCCAGGCATACATATCCAT	0.318													8	151					0	0	1	0	0	C	128851943	T	C	128851943	3	2	128	1	0	0	0	0	1	0	0	0	9588	1406	49	3	679	3	MFSD8	4	128851943	Missense_Mutation	SNP	T	TCGA-DU-8167-01A-11D-2253-08	57329860	128851943	62302333	17	21454											
NEK1	4750	broad.mit.edu	37	4	170428878	170428878	+	Silent	SNP	G	G	A			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr4:170428878G>A	ENST00000439128.2	-	20	2455	c.1815C>T	c.(1813-1815)atC>atT	p.I605I	NEK1_ENST00000510533.1_Silent_p.I561I|NEK1_ENST00000507142.1_Silent_p.I633I|NEK1_ENST00000512193.1_Silent_p.I536I|NEK1_ENST00000511633.1_Silent_p.I589I	NM_012224.2	NP_036356.1	Q96PY6	NEK1_HUMAN	NIMA-related kinase 1	605					cell division|cilium assembly|mitosis	nucleus|pericentriolar material	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|stomach(1)	45		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)|KIRC - Kidney renal clear cell carcinoma(143;0.0325)|Kidney(143;0.0385)|LUSC - Lung squamous cell carcinoma(193;0.14)		TCAGTGATTCGATTTTTTTGC	0.338													7	45					0	0	1	0	0	A	170428878	G	A	170428878	2	1	128	1	0	0	0	0	0	0	0	1	10368	1048	37	1		1	NEK1	4	170428878	Silent	SNP	G	TCGA-DU-8167-01A-11D-2253-08	41576935	170428878	20725398	18	21455											
ADAMTS16	170690	broad.mit.edu	37	5	5239326	5239326	+	Silent	SNP	C	C	T			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr5:5239326C>T	ENST00000274181.7	+	15	2355	c.2217C>T	c.(2215-2217)aaC>aaT	p.N739N		NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	739	Cys-rich.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.N739N(4)		breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						GGGTGTGTAACGGGAATAACT	0.512													5	206					0	0	1	0	0	T	5239326	C	T	5239326	2	4	128	1	0	0	0	0	0	0	0	1	260	535	19	1		1	ADAMTS16	5	5239326	Silent	SNP	C	TCGA-DU-8167-01A-11D-2253-08		5239326	175675934	19	21456											
NUP155	9631	broad.mit.edu	37	5	37351324	37351324	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr5:37351324T>C	ENST00000231498.3	-	6	894	c.691A>G	c.(691-693)Aag>Gag	p.K231E	NUP155_ENST00000513532.1_Missense_Mutation_p.K231E|NUP155_ENST00000381843.2_Missense_Mutation_p.K172E	NM_153485.1	NP_705618.1	O75694	NU155_HUMAN	nucleoporin 155kDa	231					carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore	protein binding|structural constituent of nuclear pore|transporter activity			endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	62	all_lung(31;0.000137)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CAGCCATCCTTTCCAGCCAAG	0.353													11	71					0	0	1	0	0	C	37351324	T	C	37351324	3	2	128	1	0	0	0	0	1	0	0	0	10804	1850	64	3	3604	3	NUP155	5	37351324	Missense_Mutation	SNP	T	TCGA-DU-8167-01A-11D-2253-08	32111998	37351324	143563936	20	21457											
RASGRF2	5924	broad.mit.edu	37	5	80366346	80366346	+	Silent	SNP	A	A	G			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr5:80366346A>G	ENST00000265080.4	+	4	646	c.579A>G	c.(577-579)cgA>cgG	p.R193R	RASGRF2_ENST00000502677.1_3'UTR	NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 2	193					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	protein binding|Rho guanyl-nucleotide exchange factor activity			biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		AACGAATGCGACCTTACCAAA	0.423													29	65					0	0	1	0	0	G	80366346	A	G	80366346	2	3	128	1	0	0	0	0	0	0	0	1	13125	262	10	3		3	RASGRF2	5	80366346	Silent	SNP	A	TCGA-DU-8167-01A-11D-2253-08	43015022	80366346	100548914	21	21458											
FBXL17	64839	broad.mit.edu	37	5	107197443	107197443	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr5:107197443T>C	ENST00000542267.1	-	9	2490	c.2084A>G	c.(2083-2085)aAc>aGc	p.N695S	FBXL17_ENST00000359660.5_Missense_Mutation_p.N297S	NM_001163315.2	NP_001156787.2	Q9UF56	FXL17_HUMAN	F-box and leucine-rich repeat protein 17	695										endometrium(1)|large_intestine(4)|lung(1)	6		all_cancers(142;0.00273)|all_epithelial(76;0.000362)|Prostate(80;0.0115)|Myeloproliferative disorder(839;0.0393)|Ovarian(225;0.232)		OV - Ovarian serous cystadenocarcinoma(64;9.63e-11)|Epithelial(69;4.02e-10)		GGCAGACATGTTGGGGGTCCA	0.582													5	77					0	0	1	0	0	C	107197443	T	C	107197443	3	2	128	1	0	0	0	0	1	0	0	0	5746	1725	60	3	25	3	FBXL17	5	107197443	Missense_Mutation	SNP	T	TCGA-DU-8167-01A-11D-2253-08	26831097	107197443	73717817	22	21459											
IL12B	3593	broad.mit.edu	37	5	158753714	158753714	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr5:158753714A>G	ENST00000231228.2	-	2	532	c.77T>C	c.(76-78)cTg>cCg	p.L26P		NM_002187.2	NP_002178.2	P29460	IL12B_HUMAN	interleukin 12B (natural killer cell stimulatory factor 2, cytotoxic lymphocyte maturation factor 2, p40)	26	Ig-like C2-type.				cell cycle arrest|cell migration|defense response to Gram-negative bacterium|interferon-gamma biosynthetic process|natural killer cell activation|negative regulation of interleukin-10 production|negative regulation of interleukin-17 production|negative regulation of smooth muscle cell proliferation|positive regulation of activated T cell proliferation|positive regulation of activation of JAK2 kinase activity|positive regulation of cell adhesion|positive regulation of defense response to virus by host|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-17 production|positive regulation of memory T cell differentiation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|positive regulation of natural killer cell proliferation|positive regulation of NF-kappaB import into nucleus|positive regulation of NK T cell activation|positive regulation of NK T cell proliferation|positive regulation of osteoclast differentiation|positive regulation of smooth muscle cell apoptosis|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat4 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|regulation of tyrosine phosphorylation of Stat1 protein|response to UV-B|sexual reproduction|T-helper 1 type immune response|T-helper cell differentiation	interleukin-12 complex|interleukin-23 complex|membrane	cytokine activity|cytokine receptor activity|interleukin-12 receptor binding|protein heterodimerization activity			cervix(1)|endometrium(1)|large_intestine(5)|lung(4)	11	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)			ATCTTTCTTCAGTTCCCATAT	0.502													8	60					0	0	1	0	0	G	158753714	A	G	158753714	3	3	128	1	0	0	0	0	1	0	0	0	7669	188	7	3	933	3	IL12B	5	158753714	Missense_Mutation	SNP	A	TCGA-DU-8167-01A-11D-2253-08	51556271	158753714	22161546	23	21460											
SCGN	10590	broad.mit.edu	37	6	25670302	25670302	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr6:25670302A>G	ENST00000377961.2	+	6	637	c.469A>G	c.(469-471)Atg>Gtg	p.M157V	SCGN_ENST00000334979.6_3'UTR	NM_006998.3	NP_008929.2	O76038	SEGN_HUMAN	secretagogin, EF-hand calcium binding protein	157	EF-hand 4.					extracellular region|transport vesicle membrane	calcium ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						CACTGGCACCATGGTAAGTAA	0.483													4	115					0	0	1	0	0	G	25670302	A	G	25670302	3	3	128	1	0	0	0	0	1	0	0	0	13957	217	8	3	491	3	SCGN	6	25670302	Missense_Mutation	SNP	A	TCGA-DU-8167-01A-11D-2253-08		25670302	145444765	24	21461											
SLC17A4	10050	broad.mit.edu	37	6	25779395	25779395	+	Silent	SNP	G	G	A			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr6:25779395G>A	ENST00000377905.4	+	12	1592	c.1473G>A	c.(1471-1473)gaG>gaA	p.E491E	SLC17A4_ENST00000397076.2_3'UTR|SLC17A4_ENST00000439485.2_Silent_p.E261E	NM_005495.2	NP_005486.1	Q9Y2C5	S17A4_HUMAN	solute carrier family 17, member 4	491					phosphate metabolic process	integral to plasma membrane|membrane fraction	sodium:phosphate symporter activity			breast(4)|endometrium(1)|kidney(4)|large_intestine(3)|lung(21)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						GGGCTAAAGAGCAGACATTCA	0.478													48	106					0	0	1	0	0	A	25779395	G	A	25779395	2	1	128	1	0	0	0	0	0	0	0	1	14474	962	34	2		2	SLC17A4	6	25779395	Silent	SNP	G	TCGA-DU-8167-01A-11D-2253-08	109093	25779395	145335672	25	21462											
OR5V1	81696	broad.mit.edu	37	6	29323830	29323830	+	Missense_Mutation	SNP	G	G	A	rs150457685		TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr6:29323830G>A	ENST00000377154.1	-	4	442	c.143C>T	c.(142-144)aCg>aTg	p.T48M	OR5V1_ENST00000543825.1_Missense_Mutation_p.T48M			Q9UGF6	OR5V1_HUMAN	olfactory receptor, family 5, subfamily V, member 1	48					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(3)|large_intestine(3)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						AGTCACAGTCGTCAAGATAAT	0.388													4	133					0	0	1	0	0	A	29323830	G	A	29323830	3	1	128	1	0	0	0	0	1	0	0	0	11231	1145	40	1	825	1	OR5V1	6	29323830	Missense_Mutation	SNP	G	TCGA-DU-8167-01A-11D-2253-08	3544435	29323830	141791237	26	21463											
GNL1	2794	broad.mit.edu	37	6	30514076	30514076	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr6:30514076G>A	ENST00000376621.3	-	12	2567	c.1597C>T	c.(1597-1599)Cat>Tat	p.H533Y		NM_005275.3	NP_005266.2	P36915	GNL1_HUMAN	guanine nucleotide binding protein-like 1	533					response to DNA damage stimulus|signal transduction|T cell mediated immunity	extracellular space|intracellular	GTP binding|structural molecule activity			cervix(2)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	25						GTCTCTGGATGGGACTCCCAG	0.547													5	11					0	0	1	0	0	A	30514076	G	A	30514076	3	1	128	1	0	0	0	0	1	0	0	0	6577	1348	47	2	230	2	GNL1	6	30514076	Missense_Mutation	SNP	G	TCGA-DU-8167-01A-11D-2253-08	1190246	30514076	140600991	27	21464											
LY6G5C	80741	broad.mit.edu	37	6	31644773	31644773	+	Silent	SNP	G	G	A			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr6:31644773G>A	ENST00000375858.3	-	3	413	c.405C>T	c.(403-405)ttC>ttT	p.F135F	LY6G5C_ENST00000383237.4_Silent_p.F138F|LY6G5C_ENST00000375860.2_Silent_p.F136F|LY6G5C_ENST00000474395.1_5'UTR	NM_025262.3	NP_079538.3	Q5SRR4	LY65C_HUMAN	lymphocyte antigen 6 complex, locus G5C	138	UPAR/Ly6.					extracellular region				endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	7						GGTCATTGCAGAAATCCAGGA	0.463													14	84					0	0	1	0	0	A	31644773	G	A	31644773	2	1	128	1	0	0	0	0	0	0	0	1	9139	933	33	2		2	LY6G5C	6	31644773	Silent	SNP	G	TCGA-DU-8167-01A-11D-2253-08	1130697	31644773	139470294	28	21465											
RGL2	5863	broad.mit.edu	37	6	33260297	33260297	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr6:33260297T>C	ENST00000497454.1	-	17	2527	c.2032A>G	c.(2032-2034)Agt>Ggt	p.S678G	RGL2_ENST00000437840.2_5'UTR|PFDN6_ENST00000463584.1_Intron	NM_001243738.1|NM_004761.4	NP_001230667.1|NP_004752.1	O15211	RGL2_HUMAN	ral guanine nucleotide dissociation stimulator-like 2	678	Ras-associating.				Ras protein signal transduction|regulation of small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity			breast(2)|cervix(2)|endometrium(7)|kidney(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	34						CTGATGACACTTGGAGCCTTG	0.522													16	110					0	0	1	0	0	C	33260297	T	C	33260297	3	2	128	1	0	0	0	0	1	0	0	0	13329	1609	56	3	309	3	RGL2	6	33260297	Missense_Mutation	SNP	T	TCGA-DU-8167-01A-11D-2253-08	1615524	33260297	137854770	29	21466											
GPR116	221395	broad.mit.edu	37	6	46847698	46847698	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr6:46847698A>G	ENST00000283296.7	-	9	1181	c.893T>C	c.(892-894)tTg>tCg	p.L298S	GPR116_ENST00000456426.2_Intron|GPR116_ENST00000362015.4_Missense_Mutation_p.L298S|GPR116_ENST00000265417.7_Missense_Mutation_p.L298S	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	298	Ig-like 1.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			ATTGGAGGACAAAACTTCCTT	0.423													16	100					0	0	1	0	0	G	46847698	A	G	46847698	3	3	128	1	0	0	0	0	1	0	0	0	6673	131	5	3	3199	3	GPR116	6	46847698	Missense_Mutation	SNP	A	TCGA-DU-8167-01A-11D-2253-08	13587401	46847698	124267369	30	21467											
HIVEP2	3097	broad.mit.edu	37	6	143089533	143089533	+	Silent	SNP	T	T	C			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr6:143089533T>C	ENST00000367603.2	-	6	6070	c.5328A>G	c.(5326-5328)aaA>aaG	p.K1776K	HIVEP2_ENST00000012134.2_Silent_p.K1776K|HIVEP2_ENST00000367604.1_Silent_p.K1776K	NM_006734.3	NP_006725.3	P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	1776					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		CTTCAAATATTTTAATTCGGA	0.363													5	185					0	0	1	0	0	C	143089533	T	C	143089533	2	2	128	1	0	0	0	0	0	0	0	1	7228	1838	64	3		3	HIVEP2	6	143089533	Silent	SNP	T	TCGA-DU-8167-01A-11D-2253-08	96241835	143089533	28025534	31	21468											
TULP4	56995	broad.mit.edu	37	6	158914678	158914678	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr6:158914678C>T	ENST00000367097.3	+	10	3062	c.1705C>T	c.(1705-1707)Ccc>Tcc	p.P569S	TULP4_ENST00000367094.2_Missense_Mutation_p.P569S	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN	tubby like protein 4	569					intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity			endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		CCCACGGTTGCCCCTGCGCAA	0.642													4	75					0	0	1	0	0	T	158914678	C	T	158914678	3	4	128	1	0	0	0	0	1	0	0	0	16838	739	26	2	1743	2	TULP4	6	158914678	Missense_Mutation	SNP	C	TCGA-DU-8167-01A-11D-2253-08	15825145	158914678	12200389	32	21469											
ANKMY2	57037	broad.mit.edu	37	7	16650366	16650366	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr7:16650366T>C	ENST00000306999.2	-	6	797	c.554A>G	c.(553-555)aAt>aGt	p.N185S		NM_020319.2	NP_064715.1	Q8IV38	ANKY2_HUMAN	ankyrin repeat and MYND domain containing 2	185						cilium	zinc ion binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	23	Lung NSC(10;0.103)|all_lung(11;0.204)			UCEC - Uterine corpus endometrioid carcinoma (126;0.195)		CAGCAGAGGATTCTCATTTAC	0.378													12	70					0	0	1	0	0	C	16650366	T	C	16650366	3	2	128	1	0	0	0	0	1	0	0	0	631	1493	52	3	791	3	ANKMY2	7	16650366	Missense_Mutation	SNP	T	TCGA-DU-8167-01A-11D-2253-08		16650366	142488297	33	21470											
MYOM2	9172	broad.mit.edu	37	8	2048769	2048769	+	Silent	SNP	C	C	T			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr8:2048769C>T	ENST00000262113.4	+	20	2685	c.2544C>T	c.(2542-2544)ttC>ttT	p.F848F	MYOM2_ENST00000523438.1_Silent_p.F273F	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	848	Fibronectin type-III 5.				muscle contraction	myosin filament	structural constituent of muscle			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		CTGGATATTTCGTGGACTTCA	0.542													9	60					0	0	1	0	0	T	2048769	C	T	2048769	2	4	128	1	0	0	0	0	0	0	0	1	10140	883	31	1		1	MYOM2	8	2048769	Silent	SNP	C	TCGA-DU-8167-01A-11D-2253-08		2048769	144315253	34	21471											
SNAI2	6591	broad.mit.edu	37	8	49833789	49833789	+	Silent	SNP	G	G	A			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr8:49833789G>A	ENST00000396822.1	-	2	393	c.36C>T	c.(34-36)aaC>aaT	p.N12N	SNAI2_ENST00000020945.1_Silent_p.N12N			O43623	SNAI2_HUMAN	snail family zinc finger 2	12					canonical Wnt receptor signaling pathway|ectoderm and mesoderm interaction|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)	18		all_cancers(86;0.0368)|all_epithelial(80;0.000624)|Lung NSC(129;0.0019)|all_lung(136;0.00502)				TTTTGGAGGCGTTGAAATGCT	0.532													4	123					0	0	1	0	0	A	49833789	G	A	49833789	2	1	128	1	0	0	0	0	0	0	0	1	14881	1136	40	1		1	SNAI2	8	49833789	Silent	SNP	G	TCGA-DU-8167-01A-11D-2253-08	47785020	49833789	96530233	35	21472											
NPBWR1	2831	broad.mit.edu	37	8	53852887	53852887	+	Silent	SNP	C	C	T			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr8:53852887C>T	ENST00000331251.3	+	1	1897	c.420C>T	c.(418-420)gcC>gcT	p.A140A		NM_005285.3	NP_005276.2	P48145	NPBW1_HUMAN	neuropeptides B/W receptor 1	140					synaptic transmission	plasma membrane	opioid receptor activity|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)	17		Lung NSC(129;0.0222)|all_epithelial(80;0.0301)|all_lung(136;0.0431)				TGGTGTTGGCCACTGCGGAGT	0.662													7	42					0	0	1	0	0	T	53852887	C	T	53852887	2	4	128	1	0	0	0	0	0	0	0	1	10615	581	21	2		2	NPBWR1	8	53852887	Silent	SNP	C	TCGA-DU-8167-01A-11D-2253-08	4019098	53852887	92511135	36	21473											
ZHX1	11244	broad.mit.edu	37	8	124266694	124266694	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr8:124266694A>G	ENST00000395571.3	-	3	2110	c.1493T>C	c.(1492-1494)aTg>aCg	p.M498T	ZHX1_ENST00000297857.2_Missense_Mutation_p.M498T|ZHX1-C8ORF76_ENST00000357082.4_Intron|ZHX1_ENST00000522655.1_Missense_Mutation_p.M498T	NM_001017926.2|NM_007222.4	NP_001017926.1|NP_009153.3	Q9UKY1	ZHX1_HUMAN	zinc fingers and homeoboxes 1	498	Required for interaction with NFYA.				negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		STAD - Stomach adenocarcinoma(47;0.00527)			TGTTATTTTCATAAGTCTGAT	0.358													18	221					0	0	1	0	0	G	124266694	A	G	124266694	3	3	128	1	0	0	0	0	1	0	0	0	17733	217	8	3	1132	3	ZHX1	8	124266694	Missense_Mutation	SNP	A	TCGA-DU-8167-01A-11D-2253-08	70413807	124266694	22097328	37	21474											
SH3GL2	6456	broad.mit.edu	37	9	17747099	17747099	+	Silent	SNP	C	C	T			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr9:17747099C>T	ENST00000380607.4	+	2	201	c.81C>T	c.(79-81)acC>acT	p.T27T	SH3GL2_ENST00000537391.1_5'UTR	NM_003026.2	NP_003017.1	Q99962	SH3G2_HUMAN	SH3-domain GRB2-like 2	27	BAR.|Binds and tubulates liposomes (By similarity).				axon guidance|central nervous system development|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport	cytosol|Golgi membrane|plasma membrane	identical protein binding|lipid binding			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(50;2.71e-10)|Lung(42;0.203)		CTGAAGGAACCAAGCTAGATG	0.363													5	50					0	0	1	0	0	T	17747099	C	T	17747099	2	4	128	1	0	0	0	0	0	0	0	1	14306	581	21	2		2	SH3GL2	9	17747099	Silent	SNP	C	TCGA-DU-8167-01A-11D-2253-08		17747099	123466332	38	21475											
ACO1	48	broad.mit.edu	37	9	32436370	32436370	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr9:32436370C>T	ENST00000309951.6	+	18	2360	c.2222C>T	c.(2221-2223)aCt>aTt	p.T741I	ACO1_ENST00000379923.1_Missense_Mutation_p.T741I|ACO1_ENST00000541043.1_Missense_Mutation_p.T642I	NM_002197.2	NP_002188.1	P21399	ACOC_HUMAN	aconitase 1, soluble						citrate metabolic process|response to iron(II) ion|tricarboxylic acid cycle	cytosol|endoplasmic reticulum|Golgi apparatus	4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron-responsive element binding|isocitrate hydro-lyase (cis-aconitate-forming) activity|metal ion binding|protein binding			breast(1)|endometrium(7)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	30			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;3.94e-06)		GCACCACAGACTATCCATCTG	0.483													6	196					0	0	1	0	0	T	32436370	C	T	32436370	3	4	128	1	0	0	0	0	1	0	0	0	146	565	20	2	2288	2	ACO1	9	32436370	Missense_Mutation	SNP	C	TCGA-DU-8167-01A-11D-2253-08	14689271	32436370	108777061	39	21476											
TMEM2	23670	broad.mit.edu	37	9	74359988	74359988	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr9:74359988A>G	ENST00000377044.4	-	4	1519	c.980T>C	c.(979-981)aTc>aCc	p.I327T	TMEM2_ENST00000377066.5_Missense_Mutation_p.I327T	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2	327						integral to membrane				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		GATCATCTGGATGGTTCCTTG	0.522													10	190					0	0	1	0	0	G	74359988	A	G	74359988	3	3	128	1	0	0	0	0	1	0	0	0	16181	333	12	3	3255	3	TMEM2	9	74359988	Missense_Mutation	SNP	A	TCGA-DU-8167-01A-11D-2253-08	41923618	74359988	66853443	40	21477											
TRPM6	140803	broad.mit.edu	37	9	77435241	77435241	+	Silent	SNP	C	C	T			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr9:77435241C>T	ENST00000451710.3	-	9	1350	c.1113G>A	c.(1111-1113)gaG>gaA	p.E371E	TRPM6_ENST00000376871.3_Silent_p.E371E|TRPM6_ENST00000376864.4_Silent_p.E371E|TRPM6_ENST00000360774.1_Silent_p.E371E|TRPM6_ENST00000376872.3_Silent_p.E371E|TRPM6_ENST00000483186.1_5'UTR|TRPM6_ENST00000361255.3_Silent_p.E366E|TRPM6_ENST00000449912.2_Silent_p.E366E			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	371					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						GAACCATACACTCCATTAGAA	0.363													20	72					0	0	1	0	0	T	77435241	C	T	77435241	2	4	128	1	0	0	0	0	0	0	0	1	16651	564	20	2		2	TRPM6	9	77435241	Silent	SNP	C	TCGA-DU-8167-01A-11D-2253-08	3075253	77435241	63778190	41	21478											
CEP78	84131	broad.mit.edu	37	9	80881577	80881577	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr9:80881577T>C	ENST00000424347.2	+	15	2306	c.2017T>C	c.(2017-2019)Tcc>Ccc	p.S673P	CEP78_ENST00000376597.4_Missense_Mutation_p.S690P|CEP78_ENST00000415759.2_Missense_Mutation_p.S674P|CEP78_ENST00000376598.2_Missense_Mutation_p.S689P|CEP78_ENST00000277082.5_Missense_Mutation_p.S673P			Q5JTW2	CEP78_HUMAN	centrosomal protein 78kDa	673					G2/M transition of mitotic cell cycle	centrosome|cytosol				breast(1)|cervix(1)|endometrium(5)|large_intestine(7)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	21						AGAGGAGTTGTCCAGAAATAG	0.433													2	12					0	0	1	0	0	C	80881577	T	C	80881577	3	2	128	1	0	0	0	0	1	0	0	0	3284	1667	58	3	2130	3	CEP78	9	80881577	Missense_Mutation	SNP	T	TCGA-DU-8167-01A-11D-2253-08	3446336	80881577	60331854	42	21479											
AMBP	259	broad.mit.edu	37	9	116840418	116840418	+	Silent	SNP	C	C	T			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr9:116840418C>T	ENST00000265132.3	-	1	334	c.72G>A	c.(70-72)acG>acA	p.T24T		NM_001633.3	NP_001624.1	P02760	AMBP_HUMAN	alpha-1-microglobulin/bikunin precursor	24					cell adhesion|female pregnancy|heme catabolic process|interspecies interaction between organisms|negative regulation of immune response|negative regulation of JNK cascade|protein-chromophore linkage	extracellular region|plasma membrane	calcium channel inhibitor activity|calcium oxalate binding|heme binding|IgA binding|protein homodimerization activity|serine-type endopeptidase inhibitor activity|transporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	11					Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)	TGTCGGGCGGCGTTGGCACAG	0.617													5	91					0	0	1	0	0	T	116840418	C	T	116840418	2	4	128	1	0	0	0	0	0	0	0	1	560	755	27	1		1	AMBP	9	116840418	Silent	SNP	C	TCGA-DU-8167-01A-11D-2253-08	35958841	116840418	24373013	43	21480											
RXRA	6256	broad.mit.edu	37	9	137300950	137300950	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr9:137300950G>A	ENST00000540193.1	+	3	1227	c.304G>A	c.(304-306)Ggc>Agc	p.G102S	RXRA_ENST00000481739.1_Missense_Mutation_p.G199S|RXRA_ENST00000356384.4_3'UTR			P19793	RXRA_HUMAN	retinoid X receptor, alpha	199	Modulating (By similarity).				cellular lipid metabolic process|cholesterol metabolic process|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid|vitamin metabolic process	nuclear chromatin|nucleoplasm	enzyme binding|ligand-regulated transcription factor activity|protein heterodimerization activity|retinoic acid-responsive element binding|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|transcription coactivator activity|vitamin D receptor binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19				OV - Ovarian serous cystadenocarcinoma(145;4.66e-08)|Epithelial(140;6.72e-08)|all cancers(34;2.22e-07)	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)	CCTGGCCATGGGCATGAAGCG	0.657													5	64					0	0	1	0	0	A	137300950	G	A	137300950	3	1	128	1	0	0	0	0	1	0	0	0	13815	1232	43	2	609	2	RXRA	9	137300950	Missense_Mutation	SNP	G	TCGA-DU-8167-01A-11D-2253-08	20460532	137300950	3912481	44	21481											
PTER	9317	broad.mit.edu	37	10	16528411	16528411	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr10:16528411G>A	ENST00000378000.1	+	4	739	c.493G>A	c.(493-495)Ggc>Agc	p.G165S	PTER_ENST00000423462.2_Missense_Mutation_p.G165S|PTER_ENST00000535784.2_Missense_Mutation_p.G165S|PTER_ENST00000485788.1_3'UTR|PTER_ENST00000298942.3_Missense_Mutation_p.G165S	NM_001001484.2|NM_001261838.1|NM_030664.4	NP_001001484.1|NP_001248767.1|NP_109589.2	Q96BW5	PTER_HUMAN	phosphotriesterase related	165					catabolic process		hydrolase activity, acting on ester bonds|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)	15						TATCAAGTGTGGCATTATTGG	0.448													19	108					0	0	1	0	0	A	16528411	G	A	16528411	3	1	128	1	0	0	0	0	1	0	0	0	12788	1348	47	2	499	2	PTER	10	16528411	Missense_Mutation	SNP	G	TCGA-DU-8167-01A-11D-2253-08		16528411	119006336	45	21482											
SVIL	6840	broad.mit.edu	37	10	29811448	29811448	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr10:29811448C>G	ENST00000375398.2	-	18	3729	c.3280G>C	c.(3280-3282)Gag>Cag	p.E1094Q	SVIL_ENST00000535393.1_5'UTR|SVIL_ENST00000355867.4_Missense_Mutation_p.E1094Q|SVIL_ENST00000375400.3_Missense_Mutation_p.E668Q			O95425	SVIL_HUMAN	supervillin	1094					cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				CAGAGCTTCTCCTGTGGCTGT	0.557													9	72					0	0	1	0	0	G	29811448	C	G	29811448	3	3	128	1	0	0	0	0	1	0	0	0	15477	864	30	5	3456	5	SVIL	10	29811448	Missense_Mutation	SNP	C	TCGA-DU-8167-01A-11D-2253-08	13283037	29811448	105723299	46	21483											
DUPD1	338599	broad.mit.edu	37	10	76803652	76803652	+	Silent	SNP	G	G	A			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr10:76803652G>A	ENST00000338487.5	-	2	323	c.324C>T	c.(322-324)taC>taT	p.Y108Y		NM_001003892.1	NP_001003892.1	Q68J44	DUPD1_HUMAN	dual specificity phosphatase and pro isomerase domain containing 1	108	Tyrosine-protein phosphatase.					cytoplasm	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			breast(1)|endometrium(2)|lung(5)|ovary(2)|urinary_tract(1)	11	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					CCACGCCGTGGTACTGGATGT	0.647													17	106					0	0	1	0	0	A	76803652	G	A	76803652	2	1	128	1	0	0	0	0	0	0	0	1	4830	1256	44	2		2	DUPD1	10	76803652	Silent	SNP	G	TCGA-DU-8167-01A-11D-2253-08	46992204	76803652	58731095	47	21484											
FOLH1B	219595	broad.mit.edu	37	11	89395333	89395333	+	RNA	SNP	A	A	G			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr11:89395333A>G	ENST00000532352.1	+	0	731							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B						proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						GCTTATAGGCATGGAATTGCA	0.348													3	60					0	0	1	0	0	G	89395333	A	G	89395333	1	3	128	0	1	0	0	0	0	0	0	0	6013	232	8	3		3	FOLH1B	11	89395333	RNA	SNP	A	TCGA-DU-8167-01A-11D-2253-08		89395333	45611183	48	21485											
TTC12	54970	broad.mit.edu	37	11	113233185	113233185	+	Silent	SNP	G	G	A			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr11:113233185G>A	ENST00000393020.1	+	19	2082	c.1677G>A	c.(1675-1677)ttG>ttA	p.L559L	TTC12_ENST00000314756.3_Silent_p.L559L|TTC12_ENST00000483239.2_Silent_p.L565L|TTC12_ENST00000529221.1_Silent_p.L559L			Q9H892	TTC12_HUMAN	tetratricopeptide repeat domain 12	559							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		all_cancers(61;2.73e-16)|all_epithelial(67;8.64e-10)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.183)|Renal(330;0.187)		BRCA - Breast invasive adenocarcinoma(274;5.3e-06)|Epithelial(105;8.37e-05)|all cancers(92;0.000694)		AGGAGGCCTTGCGAGCAGGAG	0.423													14	87					0	0	1	0	0	A	113233185	G	A	113233185	2	1	128	1	0	0	0	0	0	0	0	1	16741	1310	46	2		2	TTC12	11	113233185	Silent	SNP	G	TCGA-DU-8167-01A-11D-2253-08	23837852	113233185	21773331	49	21486											
ACACB	32	broad.mit.edu	37	12	109644646	109644646	+	Silent	SNP	C	C	T			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr12:109644646C>T	ENST00000338432.7	+	20	3164	c.3045C>T	c.(3043-3045)ccC>ccT	p.P1015P	ACACB_ENST00000377854.5_Silent_p.P1015P|ACACB_ENST00000377848.3_Silent_p.P1015P			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	1015					acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	TGCCAGAGCCCGTTTTTAGCA	0.527													11	51					0	0	1	0	0	T	109644646	C	T	109644646	2	4	128	1	0	0	0	0	0	0	0	1	107	639	23	1		1	ACACB	12	109644646	Silent	SNP	C	TCGA-DU-8167-01A-11D-2253-08		109644646	24207249	50	21487											
SBNO1	55206	broad.mit.edu	37	12	123834923	123834923	+	Silent	SNP	G	G	A			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr12:123834923G>A	ENST00000420886.2	-	1	65	c.66C>T	c.(64-66)gaC>gaT	p.D22D	SBNO1_ENST00000267176.4_Silent_p.D22D|SBNO1_ENST00000602750.1_Silent_p.D22D|SBNO1_ENST00000602398.1_Silent_p.D22D	NM_001167856.1	NP_001161328.1	A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)	22							ATP binding|DNA binding|hydrolase activity			NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		TATCAAAGAGGTCATTCGGAC	0.418													11	378					0	0	1	0	0	A	123834923	G	A	123834923	2	1	128	1	0	0	0	0	0	0	0	1	13915	1252	44	2		2	SBNO1	12	123834923	Silent	SNP	G	TCGA-DU-8167-01A-11D-2253-08	14190277	123834923	10016972	51	21488											
P2RX2	22953	broad.mit.edu	37	12	133196268	133196268	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr12:133196268G>A	ENST00000389110.3	+	3	350	c.313G>A	c.(313-315)Ggc>Agc	p.G105S	P2RX2_ENST00000351222.4_Intron|P2RX2_ENST00000352418.4_Intron|P2RX2_ENST00000348800.5_Missense_Mutation_p.G105S|P2RX2_ENST00000343948.4_Missense_Mutation_p.G105S|P2RX2_ENST00000449132.2_Intron|P2RX2_ENST00000350048.5_Intron	NM_170682.2|NM_170683.2|NM_174873.1	NP_733782.1|NP_733783.1|NP_777362.1	Q9UBL9	P2RX2_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 2	105					positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling|protein homooligomerization	integral to membrane	ATP binding|extracellular ATP-gated cation channel activity|identical protein binding|purinergic nucleotide receptor activity			NS(1)|breast(1)|kidney(2)|large_intestine(2)|liver(2)|lung(8)|ovary(1)|prostate(3)	20	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0767)		OV - Ovarian serous cystadenocarcinoma(86;2.32e-08)|Epithelial(86;8.62e-08)|all cancers(50;4.5e-06)		AGCCCAGGGGGGCAGCGTGTT	0.756													6	23					0	0	1	0	0	A	133196268	G	A	133196268	3	1	128	1	0	0	0	0	1	0	0	0	11387	1232	43	2	323	2	P2RX2	12	133196268	Missense_Mutation	SNP	G	TCGA-DU-8167-01A-11D-2253-08	9361345	133196268	655627	52	21489											
N4BP2L2	10443	broad.mit.edu	37	13	33017399	33017399	+	Silent	SNP	C	C	T			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr13:33017399C>T	ENST00000357505.6	-	7	1334	c.1230G>A	c.(1228-1230)tcG>tcA	p.S410S	N4BP2L2_ENST00000399396.3_Silent_p.S425S|N4BP2L2_ENST00000380121.3_5'UTR|N4BP2L2_ENST00000504114.1_Silent_p.S410S|N4BP2L2_ENST00000446957.2_Intron	NM_001278432.1	NP_001265361.1	Q92802	N42L2_HUMAN	NEDD4 binding protein 2-like 2	0										kidney(4)|large_intestine(3)|liver(1)|lung(6)|skin(1)|urinary_tract(1)	16		Lung SC(185;0.0262)		all cancers(112;9.5e-07)|Epithelial(112;5.07e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00196)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.243)		ATGCTGCCACCGAAGTGAAGA	0.408													24	86					0	0	1	0	0	T	33017399	C	T	33017399	2	4	128	1	0	0	0	0	0	0	0	1	10160	639	23	1		1	N4BP2L2	13	33017399	Silent	SNP	C	TCGA-DU-8167-01A-11D-2253-08		33017399	82152479	53	21490											
TPP2	7174	broad.mit.edu	37	13	103287941	103287941	+	Silent	SNP	G	G	A			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr13:103287941G>A	ENST00000376052.3	+	12	1414	c.1398G>A	c.(1396-1398)ctG>ctA	p.L466L	TPP2_ENST00000376065.4_Silent_p.L466L			P29144	TPP2_HUMAN	tripeptidyl peptidase II	466					proteolysis	cytoplasm|nucleus	aminopeptidase activity|serine-type endopeptidase activity|tripeptidyl-peptidase activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	52	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TTTTAGGTCTGAAAGCTAATA	0.408													4	54					0	0	1	0	0	A	103287941	G	A	103287941	2	1	128	1	0	0	0	0	0	0	0	1	16473	1277	45	2		2	TPP2	13	103287941	Silent	SNP	G	TCGA-DU-8167-01A-11D-2253-08	70270542	103287941	11881937	54	21491											
TPP2	7174	broad.mit.edu	37	13	103287990	103287990	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr13:103287990G>C	ENST00000376052.3	+	12	1463	c.1447G>C	c.(1447-1449)Gaa>Caa	p.E483Q	TPP2_ENST00000376065.4_Missense_Mutation_p.E483Q			P29144	TPP2_HUMAN	tripeptidyl peptidase II	483					proteolysis	cytoplasm|nucleus	aminopeptidase activity|serine-type endopeptidase activity|tripeptidyl-peptidase activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	52	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					AAGAGCTCTAGAAAACACTGC	0.353													9	88					0	0	1	0	0	C	103287990	G	C	103287990	3	2	128	1	0	0	0	0	1	0	0	0	16473	943	33	4	1493	4	TPP2	13	103287990	Missense_Mutation	SNP	G	TCGA-DU-8167-01A-11D-2253-08	49	103287990	11881888	55	21492											
TTC5	91875	broad.mit.edu	37	14	20763631	20763631	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr14:20763631G>A	ENST00000258821.3	-	8	954	c.898C>T	c.(898-900)Cat>Tat	p.H300Y		NM_138376.2	NP_612385.2	Q8N0Z6	TTC5_HUMAN	tetratricopeptide repeat domain 5	300					DNA repair	cytoplasm|nucleus	binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	15	all_cancers(95;0.00092)		Epithelial(56;1.1e-06)|all cancers(55;8.07e-06)	GBM - Glioblastoma multiforme(265;0.0106)		GGGCCTAGATGGGCTGGGCGC	0.547													3	61					0	0	1	0	0	A	20763631	G	A	20763631	3	1	128	1	0	0	0	0	1	0	0	0	16773	1348	47	2	436	2	TTC5	14	20763631	Missense_Mutation	SNP	G	TCGA-DU-8167-01A-11D-2253-08		20763631	86585909	56	21493											
DAD1	1603	broad.mit.edu	37	14	23058038	23058038	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr14:23058038A>C	ENST00000250498.4	-	1	137	c.26T>G	c.(25-27)aTt>aGt	p.I9S	DAD1_ENST00000543337.1_Missense_Mutation_p.I9S|DAD1_ENST00000538631.1_Missense_Mutation_p.I9S	NM_001344.2	NP_001335.1	P61803	DAD1_HUMAN	defender against cell death 1	9					anti-apoptosis|apoptosis|post-translational protein modification	integral to membrane|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity			large_intestine(2)|ovary(2)|prostate(1)	5	all_cancers(95;5.49e-05)			GBM - Glioblastoma multiforme(265;0.0156)		GAACCGCGAAATGACAGACAC	0.572													30	65					0	0	1	0	0	C	23058038	A	C	23058038	3	2	128	1	0	0	0	0	1	0	0	0	4248	101	4	4	323	4	DAD1	14	23058038	Missense_Mutation	SNP	A	TCGA-DU-8167-01A-11D-2253-08	2294407	23058038	84291502	57	21494											
MYH7	4625	broad.mit.edu	37	14	23887505	23887505	+	Silent	SNP	A	A	C			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr14:23887505A>C	ENST00000355349.3	-	30	4245	c.4083T>G	c.(4081-4083)ctT>ctG	p.L1361L		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1361					adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.L1361L(1)		NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		TGGCCTTGGAAAGGACGCGCT	0.652													3	104					0	0	1	0	0	C	23887505	A	C	23887505	2	2	128	1	0	0	0	0	0	0	0	1	10087	1	1	5		5	MYH7	14	23887505	Silent	SNP	A	TCGA-DU-8167-01A-11D-2253-08	829467	23887505	83462035	58	21495											
PRKCH	5583	broad.mit.edu	37	14	62014584	62014584	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr14:62014584C>T	ENST00000332981.5	+	13	2270	c.1885C>T	c.(1885-1887)Ccg>Tcg	p.P629S	RP11-47I22.4_ENST00000556347.1_Silent_p.N133N|PRKCH_ENST00000556245.1_3'UTR|PRKCH_ENST00000555082.1_Missense_Mutation_p.P468S	NM_006255.3	NP_006246.2	P24723	KPCL_HUMAN	protein kinase C, eta	629	AGC-kinase C-terminal.				intracellular signal transduction|platelet activation	cytosol|plasma membrane	ATP binding|enzyme binding|metal ion binding|protein kinase C activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(4)|ovary(2)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25				OV - Ovarian serous cystadenocarcinoma(108;0.045)|BRCA - Breast invasive adenocarcinoma(234;0.0906)|KIRC - Kidney renal clear cell carcinoma(182;0.182)		CCAAATAGAACCGCCTTTCAG	0.522													50	130					0	0	1	0	0	T	62014584	C	T	62014584	3	4	128	1	0	0	0	0	1	0	0	0	12565	507	18	2	1935	2	PRKCH	14	62014584	Missense_Mutation	SNP	C	TCGA-DU-8167-01A-11D-2253-08	38127079	62014584	45334956	59	21496											
PCNX	22990	broad.mit.edu	37	14	71445338	71445338	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr14:71445338delG	ENST00000304743.2	+	6	2730	c.2284delG	c.(2284-2286)gggfs	p.G762fs	PCNX_ENST00000238570.5_Frame_Shift_Del_p.G762fs|PCNX_ENST00000439984.3_Frame_Shift_Del_p.G762fs	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	762						integral to membrane				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		ATTTCCTGAAGGGGAAGAGCA	0.418													22	182	---	---	---	---						-	71445338	G	-	71445338	7	5	128	1	0	1	0	1	0	0	0	0	11638	1000	35	0	2306	0	PCNX	14	71445338	Frame_Shift_Del	DEL	G	TCGA-DU-8167-01A-11D-2253-08	9430754	71445338	35904202	60	21497											
NRXN3	9369	broad.mit.edu	37	14	79746731	79746731	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr14:79746731G>T	ENST00000281127.7	+	1	976	c.97G>T	c.(97-99)Gta>Tta	p.V33L	NRXN3_ENST00000554719.1_Intron|NRXN3_ENST00000557594.1_Missense_Mutation_p.V33L|NRXN3_ENST00000335750.5_Intron|NRXN3_ENST00000428277.2_Missense_Mutation_p.V33L	NM_138970.3	NP_620426.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	33					angiogenesis|cell adhesion	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		CGTCAGCTCTGTATGGAGTTC	0.587													7	146					0.00198382	0.00206161	1	1	0	T	79746731	G	T	79746731	3	4	128	1	0	0	0	0	1	0	0	0	10715	1377	48	5	2282	5	NRXN3	14	79746731	Missense_Mutation	SNP	G	TCGA-DU-8167-01A-11D-2253-08	8301393	79746731	27602809	61	21498											
ASB2	51676	broad.mit.edu	37	14	94404157	94404157	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr14:94404157G>A	ENST00000555019.1	-	9	2088	c.1658C>T	c.(1657-1659)gCg>gTg	p.A553V	ASB2_ENST00000315988.4_Missense_Mutation_p.A505V	NM_001202429.1	NP_001189358.1	Q96Q27	ASB2_HUMAN	ankyrin repeat and SOCS box containing 2	505	SOCS box.				intracellular signal transduction					breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(1)	27		all_cancers(154;0.13)		COAD - Colon adenocarcinoma(157;0.217)|Epithelial(152;0.232)		GATGGGCCCCGCCCAGCGGCT	0.597													6	23					0	0	1	0	0	A	94404157	G	A	94404157	3	1	128	1	0	0	0	0	1	0	0	0	1022	1087	38	1	257	1	ASB2	14	94404157	Missense_Mutation	SNP	G	TCGA-DU-8167-01A-11D-2253-08	14657426	94404157	12945383	62	21499											
FBN1	2200	broad.mit.edu	37	15	48760623	48760623	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr15:48760623C>T	ENST00000316623.5	-	37	5023	c.4568G>A	c.(4567-4569)cGa>cAa	p.R1523Q		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	1523	EGF-like 26; calcium-binding.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		ACAGCCAACTCGAGTTGGGTT	0.438													4	87					0	0	1	0	0	T	48760623	C	T	48760623	3	4	128	1	0	0	0	0	1	0	0	0	5735	884	31	1	4167	1	FBN1	15	48760623	Missense_Mutation	SNP	C	TCGA-DU-8167-01A-11D-2253-08		48760623	53770769	63	21500											
NOX5	79400	broad.mit.edu	37	15	69348973	69348973	+	Silent	SNP	G	G	A			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr15:69348973G>A	ENST00000260364.5	+	17	2482	c.2181G>A	c.(2179-2181)ctG>ctA	p.L727L	NOX5_ENST00000448182.3_Silent_p.L699L|NOX5_ENST00000455873.3_Silent_p.L710L|NOX5_ENST00000530406.2_Silent_p.L717L|NOX5_ENST00000388866.3_Silent_p.L745L			Q96PH1	NOX5_HUMAN	NADPH oxidase, EF-hand calcium binding domain 5	745					angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation	endoplasmic reticulum|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|NADP binding|superoxide-generating NADPH oxidase activity			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						CCCCAGCTCTGGCCAAGGTGC	0.537													5	69					0	0	1	0	0	A	69348973	G	A	69348973	2	1	128	1	0	0	0	0	0	0	0	1	10606	1335	47	2		2	NOX5	15	69348973	Silent	SNP	G	TCGA-DU-8167-01A-11D-2253-08	20588350	69348973	33182419	64	21501											
CDH8	1006	broad.mit.edu	37	16	61760949	61760949	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr16:61760949G>C	ENST00000584337.1	-	9	2106	c.1585C>G	c.(1585-1587)Ctc>Gtc	p.L529V	CDH8_ENST00000577390.1_Intron|CDH8_ENST00000577730.1_Intron|CDH8_ENST00000299345.6_Intron			P55286	CADH8_HUMAN	cadherin 8, type 2	639	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		TCAAATATGAGACAGTTGTAT	0.363													6	79					0	0	1	0	0	C	61760949	G	C	61760949	3	2	128	1	0	0	0	0	1	0	0	0	3138	957	33	4		4	CDH8	16	61760949	Missense_Mutation	SNP	G	TCGA-DU-8167-01A-11D-2253-08		61760949	28593804	65	21502											
CMTM1	113540	broad.mit.edu	37	16	66612848	66612848	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr16:66612848C>T	ENST00000379500.2	+	4	872	c.805C>T	c.(805-807)Ccc>Tcc	p.P269S	CMTM1_ENST00000528324.1_3'UTR|CMTM1_ENST00000533666.1_3'UTR|CMTM1_ENST00000529506.1_Missense_Mutation_p.P53S|CMTM1_ENST00000328020.6_3'UTR|CMTM1_ENST00000531885.1_3'UTR|CKLF-CMTM1_ENST00000527729.1_Missense_Mutation_p.P98S|CMTM1_ENST00000336328.6_Missense_Mutation_p.P99S|CMTM1_ENST00000457188.2_Missense_Mutation_p.P152S|CMTM1_ENST00000533953.1_Missense_Mutation_p.P221S|CMTM1_ENST00000332695.7_Missense_Mutation_p.P105S	NM_052999.3|NM_181268.2	NP_443725.3|NP_851785.2	Q8IZ96	CKLF1_HUMAN	CKLF-like MARVEL transmembrane domain containing 1	152					chemotaxis	extracellular space|integral to membrane	cytokine activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	7		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0702)|Epithelial(162;0.222)		GAAGCTTTCCCCCGCCAAGGA	0.602													15	59					0	0	1	0	0	T	66612848	C	T	66612848	3	4	128	1	0	0	0	0	1	0	0	0	3605	623	22	2	819	2	CMTM1	16	66612848	Missense_Mutation	SNP	C	TCGA-DU-8167-01A-11D-2253-08	4851899	66612848	23741905	66	21503											
TP53	7157	broad.mit.edu	37	17	7578413	7578413	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr17:7578413C>G	ENST00000420246.2	-	5	649	c.517G>C	c.(517-519)Gtg>Ctg	p.V173L	TP53_ENST00000445888.2_Missense_Mutation_p.V173L|TP53_ENST00000269305.4_Missense_Mutation_p.V173L|TP53_ENST00000455263.2_Missense_Mutation_p.V173L|TP53_ENST00000359597.4_Missense_Mutation_p.V173L|TP53_ENST00000413465.2_Missense_Mutation_p.V173L|TP53_ENST00000574684.1_5'UTR	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	173	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		V -> A (in sporadic cancers; somatic mutation).|V -> E (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).|V -> M (in LFS; germline mutation and in sporadic cancers; somatic mutation).|V -> W (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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.V173L(68)|p.V173M(46)|p.0?(8)|p.V80L(6)|p.V41L(6)|p.V173fs*1(4)|p.V80M(3)|p.V41M(3)|p.V173fs*59(2)|p.V157_C176del20(1)|p.V172_R174delVVR(1)|p.V173fs*69(1)|p.P151_V173del23(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.E171fs*1(1)|p.V173W(1)|p.V173fs*8(1)|p.H168fs*69(1)|p.E171_H179delEVVRRCPHH(1)|p.S149fs*72(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)		CAGCGCCTCACAACCTCCGTC	0.662		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	44					0	0	1	0	0	G	7578413	C	G	7578413	3	3	128	1	0	0	0	0	1	0	0	0	16442	478	17	5	781	5	TP53	17	7578413	Missense_Mutation	SNP	C	TCGA-DU-8167-01A-11D-2253-08		7578413	73616797	67	21504											
ALOX12B	242	broad.mit.edu	37	17	7976156	7976156	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr17:7976156T>C	ENST00000319144.4	-	15	2299	c.2039A>G	c.(2038-2040)aAc>aGc	p.N680S		NM_001139.2	NP_001130.1	O75342	LX12B_HUMAN	arachidonate 12-lipoxygenase, 12R type	680	Lipoxygenase.				epidermis development|leukotriene biosynthetic process		arachidonate 12-lipoxygenase activity|iron ion binding|lipoxygenase activity			endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	16						AAGGCACTTGTTGCGCTGGCG	0.587										Multiple Myeloma(8;0.094)			6	98					0	0	1	0	0	C	7976156	T	C	7976156	3	2	128	1	0	0	0	0	1	0	0	0	533	1725	60	3	70	3	ALOX12B	17	7976156	Missense_Mutation	SNP	T	TCGA-DU-8167-01A-11D-2253-08	397743	7976156	73219054	68	21505			1	9		2	2	24	N	T_G	6.463652e-05
ALOX12B	242	broad.mit.edu	37	17	7976179	7976179	+	Silent	SNP	G	G	A			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr17:7976179G>A	ENST00000319144.4	-	15	2276	c.2016C>T	c.(2014-2016)atC>atT	p.I672I		NM_001139.2	NP_001130.1	O75342	LX12B_HUMAN	arachidonate 12-lipoxygenase, 12R type	672	Lipoxygenase.				epidermis development|leukotriene biosynthetic process		arachidonate 12-lipoxygenase activity|iron ion binding|lipoxygenase activity			endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	16						TGTCGTGTGAGATCTGGTTCA	0.607										Multiple Myeloma(8;0.094)			5	75					0	0	1	0	0	A	7976179	G	A	7976179	2	1	128	1	0	0	0	0	0	0	0	1	533	932	33	2		2	ALOX12B	17	7976179	Silent	SNP	G	TCGA-DU-8167-01A-11D-2253-08	23	7976179	73219031	69	21506			1	9		2	2	24	N	T_G	6.463652e-05
LLGL1	3996	broad.mit.edu	37	17	18145015	18145015	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr17:18145015C>T	ENST00000316843.4	+	18	2849	c.2753C>T	c.(2752-2754)aCg>aTg	p.T918M		NM_004140.3	NP_004131	Q15334	L2GL1_HUMAN	lethal giant larvae homolog 1 (Drosophila)	918					cortical actin cytoskeleton organization|exocytosis|protein complex assembly	cortical actin cytoskeleton	protein kinase binding|structural molecule activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_neural(463;0.228)					TGCGTCTTTACGCGCCATGGC	0.652													4	110					0	0	1	0	0	T	18145015	C	T	18145015	3	4	128	1	0	0	0	0	1	0	0	0	8874	536	19	1	2823	1	LLGL1	17	18145015	Missense_Mutation	SNP	C	TCGA-DU-8167-01A-11D-2253-08	10168836	18145015	63050195	70	21507											
HSD17B1	3292	broad.mit.edu	37	17	40705302	40705302	+	Silent	SNP	C	C	T			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr17:40705302C>T	ENST00000585807.1	+	2	3978	c.258C>T	c.(256-258)gaC>gaT	p.D86D	RP11-400F19.6_ENST00000590513.1_RNA|HSD17B1_ENST00000225929.5_Silent_p.D86D|RP11-400F19.8_ENST00000585572.1_RNA	NM_000413.2	NP_000404.2	P14061	DHB1_HUMAN	hydroxysteroid (17-beta) dehydrogenase 1	86					estrogen biosynthetic process	cytosol	binding|estradiol 17-beta-dehydrogenase activity			NS(1)|endometrium(1)|kidney(1)|lung(2)	5		all_cancers(22;5.59e-08)|all_epithelial(22;7e-07)|Ovarian(249;0.0261)		BRCA - Breast invasive adenocarcinoma(366;0.129)	NADH(DB00157)	GCCGCGTGGACGTGCTGGGTG	0.642													4	40					0	0	1	0	0	T	40705302	C	T	40705302	2	4	128	1	0	0	0	0	0	0	0	1	7419	535	19	1		1	HSD17B1	17	40705302	Silent	SNP	C	TCGA-DU-8167-01A-11D-2253-08	22560287	40705302	40489908	71	21508											
ANKRD40	91369	broad.mit.edu	37	17	48773483	48773483	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr17:48773483G>C	ENST00000285243.6	-	5	1251	c.982C>G	c.(982-984)Caa>Gaa	p.Q328E		NM_052855.3	NP_443087.1	Q6AI12	ANR40_HUMAN	ankyrin repeat domain 40	328										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|skin(1)|urinary_tract(1)	11			BRCA - Breast invasive adenocarcinoma(22;2.03e-09)			TGGAAATCTTGGAGTCGAGCA	0.393													17	68					0	0	1	0	0	C	48773483	G	C	48773483	3	2	128	1	0	0	0	0	1	0	0	0	663	1357	47	5	128	5	ANKRD40	17	48773483	Missense_Mutation	SNP	G	TCGA-DU-8167-01A-11D-2253-08	8068181	48773483	32421727	72	21509											
ARMC6	93436	broad.mit.edu	37	19	19162910	19162910	+	Silent	SNP	C	C	T			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr19:19162910C>T	ENST00000535612.1	+	5	1191	c.759C>T	c.(757-759)gaC>gaT	p.D253D	ARMC6_ENST00000546344.1_Silent_p.D160D|ARMC6_ENST00000269932.6_Silent_p.D228D|ARMC6_ENST00000392335.2_Silent_p.D228D|ARMC6_ENST00000392336.3_Silent_p.D253D	NM_001199196.1	NP_001186125.1	Q6NXE6	ARMC6_HUMAN	armadillo repeat containing 6	253							protein binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(5)|ovary(1)|prostate(1)	14			OV - Ovarian serous cystadenocarcinoma(5;5.66e-06)|Epithelial(12;0.000391)			CCTTCGATGACGACATCCGTG	0.572													12	36					0	0	1	0	0	T	19162910	C	T	19162910	2	4	128	1	0	0	0	0	0	0	0	1	954	535	19	1		1	ARMC6	19	19162910	Silent	SNP	C	TCGA-DU-8167-01A-11D-2253-08		19162910	39966073	73	21510											
CEACAM5	1048	broad.mit.edu	37	19	42213763	42213763	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr19:42213763C>T	ENST00000221992.6	+	2	343	c.229C>T	c.(229-231)Cgt>Tgt	p.R77C	CEACAM5_ENST00000398599.4_Missense_Mutation_p.R77C|CEACAM5_ENST00000405816.1_Missense_Mutation_p.R77C|CEA_ENST00000598976.1_Missense_Mutation_p.R77C	NM_004363.2	NP_004354.2	P06731	CEAM5_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 5	77	Ig-like 1.					anchored to membrane|basolateral plasma membrane|integral to plasma membrane				breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		GGATGGCAACCGTCAAATTAT	0.488													49	128					0	0	1	0	0	T	42213763	C	T	42213763	3	4	128	1	0	0	0	0	1	0	0	0	3217	652	23	1	235	1	CEACAM5	19	42213763	Missense_Mutation	SNP	C	TCGA-DU-8167-01A-11D-2253-08	23050853	42213763	16915220	74	21511											
BANF2	140836	broad.mit.edu	37	20	17716423	17716423	+	Silent	SNP	C	C	T			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr20:17716423C>T	ENST00000246090.5	+	4	502	c.240C>T	c.(238-240)caC>caT	p.H80H	BANF2_ENST00000377805.3_Silent_p.H80H|BANF2_ENST00000545418.2_Silent_p.H87H|BANF2_ENST00000467330.1_3'UTR	NM_178477.4	NP_848572.3	Q9H503	BAFL_HUMAN	barrier to autointegration factor 2	80						cytoplasm|nucleus	DNA binding			large_intestine(1)|lung(1)|prostate(3)|skin(1)	6						AGACTTCTCACTGCCTCAAGG	0.542													16	89					0	0	1	0	0	T	17716423	C	T	17716423	2	4	128	1	0	0	0	0	0	0	0	1	1306	564	20	2		2	BANF2	20	17716423	Silent	SNP	C	TCGA-DU-8167-01A-11D-2253-08		17716423	45309097	75	21512											
ARFGEF2	10564	broad.mit.edu	37	20	47592595	47592595	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr20:47592595G>A	ENST00000371917.4	+	14	1817	c.1817G>A	c.(1816-1818)gGc>gAc	p.G606D		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	606					exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			GATGGGAAAGGCCTTGACATG	0.532													6	39					0	0	1	0	0	A	47592595	G	A	47592595	3	1	128	1	0	0	0	0	1	0	0	0	850	1203	42	2	1871	2	ARFGEF2	20	47592595	Missense_Mutation	SNP	G	TCGA-DU-8167-01A-11D-2253-08	29876172	47592595	15432925	76	21513											
FAM65C	140876	broad.mit.edu	37	20	49225174	49225174	+	Silent	SNP	C	C	T	rs144349290		TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr20:49225174C>T	ENST00000327979.2	-	10	1185	c.774G>A	c.(772-774)acG>acA	p.T258T	FAM65C_ENST00000045083.2_Silent_p.T258T|FAM65C_ENST00000535356.1_Silent_p.T262T			Q96MK2	FA65C_HUMAN	family with sequence similarity 65, member C	258										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(1)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TCTCATGCAGCGTGGGGATGA	0.657													10	156					0	0	1	0	0	T	49225174	C	T	49225174	2	4	128	1	0	0	0	0	0	0	0	1	5636	755	27	1		1	FAM65C	20	49225174	Silent	SNP	C	TCGA-DU-8167-01A-11D-2253-08	1632579	49225174	13800346	77	21514											
EIF3D	8664	broad.mit.edu	37	22	36907606	36907606	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr22:36907606G>A	ENST00000216190.8	-	14	1947	c.1577C>T	c.(1576-1578)aCc>aTc	p.T526I	EIF3D_ENST00000405442.1_Missense_Mutation_p.T526I|EIF3D_ENST00000478547.1_5'UTR|EIF3D_ENST00000541106.1_Missense_Mutation_p.T477I	NM_003753.3	NP_003744.1	O15371	EIF3D_HUMAN	eukaryotic translation initiation factor 3, subunit D	526						cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			cervix(1)|endometrium(2)|large_intestine(6)|lung(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	15						AGAGCTGAAGGTGCCATCAGG	0.527											OREG0026522	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	19					0	0	1	0	0	A	36907606	G	A	36907606	3	1	128	1	0	0	0	0	1	0	0	0	5042	1261	44	2	77	2	EIF3D	22	36907606	Missense_Mutation	SNP	G	TCGA-DU-8167-01A-11D-2253-08		36907606	14396960	78	21515											
FAM47B	170062	broad.mit.edu	37	X	34962576	34962576	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chrX:34962576G>A	ENST00000329357.5	+	1	1664	c.1628G>A	c.(1627-1629)cGt>cAt	p.R543H		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	543										breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						AGTGCACAGCGTGGGAGGATA	0.498													6	70					0	0	1	0	0	A	34962576	G	A	34962576	3	1	128	1	0	0	0	0	1	0	0	0	5606	1145	40	1	1630	1	FAM47B	23	34962576	Missense_Mutation	SNP	G	TCGA-DU-8167-01A-11D-2253-08		34962576	120307984	79	21516											
TBC1D25	4943	broad.mit.edu	37	X	48418056	48418056	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chrX:48418056C>T	ENST00000376771.4	+	6	1101	c.760C>T	c.(760-762)Cgg>Tgg	p.R254W	TBC1D25_ENST00000476141.1_3'UTR|TBC1D25_ENST00000537536.1_5'UTR	NM_002536.2	NP_002527.1	Q3MII6	TBC25_HUMAN	TBC1 domain family, member 25	254	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4						AGGCCGAGAGCGGATGGACTA	0.587													24	35					0	0	1	0	0	T	48418056	C	T	48418056	3	4	128	1	0	0	0	0	1	0	0	0	15672	759	27	1	782	1	TBC1D25	23	48418056	Missense_Mutation	SNP	C	TCGA-DU-8167-01A-11D-2253-08	13455480	48418056	106852504	80	21517											
WAS	7454	broad.mit.edu	37	X	48545245	48545245	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chrX:48545245A>T	ENST00000376701.4	+	7	710	c.635A>T	c.(634-636)tAc>tTc	p.Y212F	WAS_ENST00000483750.1_3'UTR	NM_000377.2	NP_000368.1	P42768	WASP_HUMAN	Wiskott-Aldrich syndrome	212					blood coagulation|defense response|epidermis development|immune response|T cell receptor signaling pathway	actin cytoskeleton|cytosol	identical protein binding|small GTPase regulator activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28		all_lung(315;1.27e-10)				AGTTCACGATACCGTGGGCTC	0.572			"Mis, N, F, S"			lymphoma							5	44					0	0	1	0	0	T	48545245	A	T	48545245	3	4	128	1	0	0	0	0	1	0	0	0	17311	391	14	5	661	5	WAS	23	48545245	Missense_Mutation	SNP	A	TCGA-DU-8167-01A-11D-2253-08	127189	48545245	106725315	81	21518											
SHROOM4	57477	broad.mit.edu	37	X	50377586	50377586	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chrX:50377586delG	ENST00000376020.2	-	4	1512	c.1487delC	c.(1486-1488)ccafs	p.P496fs	SHROOM4_ENST00000289292.7_Frame_Shift_Del_p.P496fs|SHROOM4_ENST00000460112.3_Frame_Shift_Del_p.P380fs	NM_020717.3	NP_065768.2	Q9ULL8	SHRM4_HUMAN	shroom family member 4	496					actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					CTCTCCATGTGGGGGACTGCT	0.527													18	100	---	---	---	---						-	50377586	G	-	50377586	7	5	128	1	0	1	0	1	0	0	0	0	14351	1348	47	0	3018	0	SHROOM4	23	50377586	Frame_Shift_Del	DEL	G	TCGA-DU-8167-01A-11D-2253-08	1832341	50377586	104892974	82	21519											
ALAS2	212	broad.mit.edu	37	X	55042060	55042060	+	Silent	SNP	C	C	T			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chrX:55042060C>T	ENST00000330807.5	-	8	1256	c.1119G>A	c.(1117-1119)ggG>ggA	p.G373G	ALAS2_ENST00000335854.4_Silent_p.G336G|ALAS2_ENST00000396198.3_Silent_p.G360G|ALAS2_ENST00000498636.1_5'UTR	NM_000032.4	NP_000023.2	P22557	HEM0_HUMAN	aminolevulinate, delta-, synthase 2	373					cellular iron ion homeostasis|erythrocyte differentiation|heme biosynthetic process|hemoglobin biosynthetic process|oxygen homeostasis|response to hypoxia	mitochondrial inner membrane|mitochondrial matrix	5-aminolevulinate synthase activity|coenzyme binding|glycine binding|protein binding|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)	17					Glycine(DB00145)	CATCACGCTCCCCAATCCCAG	0.527													22	73					0	0	1	0	0	T	55042060	C	T	55042060	2	4	128	1	0	0	0	0	0	0	0	1	482	610	22	2		2	ALAS2	23	55042060	Silent	SNP	C	TCGA-DU-8167-01A-11D-2253-08	4664474	55042060	100228500	83	21520											
ATRX	546	broad.mit.edu	37	X	76909629	76909629	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chrX:76909629G>A	ENST00000373344.5	-	14	4490	c.4276C>T	c.(4276-4278)Cga>Tga	p.R1426*	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Nonsense_Mutation_p.R1388*	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1426					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.R1426*(1)|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)	TTAATACGTCGCCTTTTCTTT	0.328			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						12	97					0	0	1	0	0	A	76909629	G	A	76909629	4	1	128	1	0	0	0	0	0	1	0	0	1206	1095	38	1	3290	1	ATRX	23	76909629	Nonsense_Mutation	SNP	G	TCGA-DU-8167-01A-11D-2253-08	21867569	76909629	78360931	84	21521											
H2BFWT	158983	broad.mit.edu	37	X	103267993	103267993	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chrX:103267993G>T	ENST00000217926.5	-	1	266	c.240C>A	c.(238-240)agC>agA	p.S80R		NM_001002916.3	NP_001002916.3	Q7Z2G1	H2BWT_HUMAN	H2B histone family, member W, testis-specific	80					nucleosome assembly	nuclear membrane|nucleosome	DNA binding			breast(2)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	16						AGGTGGCGAAGCTGTCCCCGC	0.612													3	40					0.115264	0.116362	1	1	0	T	103267993	G	T	103267993	3	4	128	1	0	0	0	0	1	0	0	0	6973	962	34	4	295	4	H2BFWT	23	103267993	Missense_Mutation	SNP	G	TCGA-DU-8167-01A-11D-2253-08	26358364	103267993	52002567	85	21522											
TRPC5	7224	broad.mit.edu	37	X	111024435	111024435	+	Splice_Site	SNP	C	C	T			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chrX:111024435C>T	ENST00000262839.2	-	9	3019		c.e9-1			NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5						axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						CATTGCGTTCCTATAATTGAA	0.403													25	104					0	0	1	0	0	T	111024435	C	T	111024435	5	4	128	1	0	0	0	0	0	0	1	0	16643	695	24	2	833	2	TRPC5	23	111024435	Splice_Site	SNP	C	TCGA-DU-8167-01A-11D-2253-08	7756442	111024435	44246125	86	21523											
BRS3	680	broad.mit.edu	37	X	135574306	135574306	+	Silent	SNP	C	C	T			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chrX:135574306C>T	ENST00000370648.3	+	3	1200	c.972C>T	c.(970-972)tgC>tgT	p.C324C		NM_001727.1	NP_001718.1	P32247	BRS3_HUMAN	bombesin-like receptor 3	324					adult feeding behavior|glucose metabolic process|regulation of blood pressure	integral to membrane|plasma membrane	bombesin receptor activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|pancreas(1)|prostate(1)	23	Acute lymphoblastic leukemia(192;0.000127)					GCAATTCTTGCGTAAACCCCT	0.468													7	178					0	0	1	0	0	T	135574306	C	T	135574306	2	4	128	1	0	0	0	0	0	0	0	1	1524	776	27	1		1	BRS3	23	135574306	Silent	SNP	C	TCGA-DU-8167-01A-11D-2253-08	24549871	135574306	19696254	87	21524											
FUBP1	8880	broad.mit.edu	37	1	78433338	78433339	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr1:78433338_78433339delTG	ENST00000370767.1	-	4	349_350	c.262_263delCA	c.(262-264)cagfs	p.Q88fs	FUBP1_ENST00000370768.2_Frame_Shift_Del_p.Q88fs|FUBP1_ENST00000436586.2_Frame_Shift_Del_p.Q109fs			Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1	88					transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						CGGTGGTAACTGTGTTCCAAAA	0.282			"F, N"		oligodendroglioma								35	5	---	---	---	---						-	78433339	TG	-	78433338	7	5	129	1	0	1	0	1	0	0	0	0	6127	1580	55	0	1739	0	FUBP1	1	78433338	Frame_Shift_Del	DEL	TG	TCGA-DU-8168-01A-11D-2253-08		78433338	170817283	1	21525											
CACNA1E	777	broad.mit.edu	37	1	181707520	181707520	+	Silent	SNP	C	C	T			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr1:181707520C>T	ENST00000526775.1	+	23	3678	c.3513C>T	c.(3511-3513)gaC>gaT	p.D1171D	CACNA1E_ENST00000367573.2_Silent_p.D1190D|CACNA1E_ENST00000357570.5_Silent_p.D1141D|CACNA1E_ENST00000367567.4_Silent_p.D797D|CACNA1E_ENST00000367570.1_Silent_p.D1190D|CACNA1E_ENST00000358338.5_Silent_p.D1122D|CACNA1E_ENST00000360108.3_Silent_p.D1171D	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1190					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						GGTATTTTGACTATGTGTTCA	0.478													7	199					0	0	1	0	0	T	181707520	C	T	181707520	2	4	129	1	0	0	0	0	0	0	0	1	2560	564	20	2		2	CACNA1E	1	181707520	Silent	SNP	C	TCGA-DU-8168-01A-11D-2253-08	103274182	181707520	67543101	2	21526											
DEGS1	8560	broad.mit.edu	37	1	224377867	224377867	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr1:224377867C>T	ENST00000323699.4	+	2	837	c.671C>T	c.(670-672)cCa>cTa	p.P224L	DEGS1_ENST00000391877.3_Missense_Mutation_p.P224L	NM_003676.3	NP_003667.1	O15121	DEGS1_HUMAN	delta(4)-desaturase, sphingolipid 1	224					sphingolipid metabolic process|unsaturated fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction	electron carrier activity|protein binding|sphingolipid delta-4 desaturase activity			breast(1)|kidney(3)|large_intestine(2)|lung(4)	10	Breast(184;0.193)			GBM - Glioblastoma multiforme(131;0.00643)		GGTTTGCACCCAATTTCTGGA	0.373													6	135					0	0	1	0	0	T	224377867	C	T	224377867	3	4	129	1	0	0	0	0	1	0	0	0	4450	594	21	2	677	2	DEGS1	1	224377867	Missense_Mutation	SNP	C	TCGA-DU-8168-01A-11D-2253-08	42670347	224377867	24872754	3	21527											
OR2T4	127074	broad.mit.edu	37	1	248525565	248525565	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr1:248525565A>T	ENST00000366475.1	+	1	683	c.683A>T	c.(682-684)gAg>gTg	p.E228V		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	228					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TCACTCTATGAGATTTTCATG	0.478													57	167					0	0	1	0	0	T	248525565	A	T	248525565	3	4	129	1	0	0	0	0	1	0	0	0	11075	304	11	5	685	5	OR2T4	1	248525565	Missense_Mutation	SNP	A	TCGA-DU-8168-01A-11D-2253-08	24147698	248525565	725056	4	21528											
FAM168B	130074	broad.mit.edu	37	2	131813195	131813197	+	In_Frame_Del	DEL	GGA	GGA	-			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr2:131813195_131813197delGGA	ENST00000409185.1	-	4	333_335	c.226_228delTCC	c.(226-228)tccdel	p.S76del	FAM168B_ENST00000389915.3_In_Frame_Del_p.S76del	NM_001009993.2	NP_001009993.2	A1KXE4	F168B_HUMAN	family with sequence similarity 168, member B	76										endometrium(3)|lung(2)	5						AGGGGTTCGGGGAGGAGGAGTAC	0.586													7	125	---	---	---	---						-	131813197	GGA	-	131813195	7	5	129	1	0	1	0	1	0	0	0	0	5516	1219	43	0	371	0	FAM168B	2	131813195	In_Frame_Del	DEL	GGA	TCGA-DU-8168-01A-11D-2253-08		131813195	111386178	5	21529											
TANC1	85461	broad.mit.edu	37	2	160053205	160053205	+	Silent	SNP	T	T	C			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr2:160053205T>C	ENST00000263635.6	+	18	3303	c.3066T>C	c.(3064-3066)acT>acC	p.T1022T	TANC1_ENST00000454300.1_Silent_p.T916T	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	1022						cell junction|postsynaptic density|postsynaptic membrane	binding			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						ACCTGCTGACTTGTGAGTGGT	0.667													55	65					0	0	1	0	0	C	160053205	T	C	160053205	2	2	129	1	0	0	0	0	0	0	0	1	15601	1596	56	3		3	TANC1	2	160053205	Silent	SNP	T	TCGA-DU-8168-01A-11D-2253-08	28240010	160053205	83146168	6	21530											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								42	50					0	0	1	0	0	T	209113112	C	T	209113112	3	4	129	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-DU-8168-01A-11D-2253-08	49059907	209113112	34086261	7	21531											
D2HGDH	728294	broad.mit.edu	37	2	242707146	242707146	+	Missense_Mutation	SNP	A	A	G	rs149519095	by1000genomes	TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr2:242707146A>G	ENST00000321264.4	+	10	1537	c.1328A>G	c.(1327-1329)aAt>aGt	p.N443S	D2HGDH_ENST00000403782.1_Missense_Mutation_p.N309S|D2HGDH_ENST00000486953.1_3'UTR	NM_152783.3	NP_689996.4	Q8N465	D2HDH_HUMAN	D-2-hydroxyglutarate dehydrogenase	443					2-oxoglutarate metabolic process|cellular protein metabolic process|response to cobalt ion|response to manganese ion|response to zinc ion	mitochondrial matrix	(R)-2-hydroxyglutarate dehydrogenase activity|flavin adenine dinucleotide binding|protein binding			breast(1)|endometrium(3)|lung(10)|skin(1)|urinary_tract(1)	16		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833)		CTGCACCTCAATGTGACGGCG	0.697													35	51					0	0	1	0	0	G	242707146	A	G	242707146	3	3	129	1	0	0	0	0	1	0	0	0	4237	101	4	3	1362	3	D2HGDH	2	242707146	Missense_Mutation	SNP	A	TCGA-DU-8168-01A-11D-2253-08	33594034	242707146	492227	8	21532											
VGLL4	9686	broad.mit.edu	37	3	11600050	11600050	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr3:11600050A>G	ENST00000273038.3	-	6	1218	c.853T>C	c.(853-855)Tcc>Ccc	p.S285P	VGLL4_ENST00000430365.2_Missense_Mutation_p.S291P|VGLL4_ENST00000413604.1_Missense_Mutation_p.S226P|VGLL4_ENST00000404339.1_Missense_Mutation_p.S290P|VGLL4_ENST00000451674.2_Missense_Mutation_p.S205P|VGLL4_ENST00000424529.2_Missense_Mutation_p.S201P	NM_001284391.1|NM_014667.2	NP_001271320.1|NP_055482.2	Q14135	VGLL4_HUMAN	vestigial like 4 (Drosophila)	285					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|endometrium(1)|large_intestine(1)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10				LUSC - Lung squamous cell carcinoma(1;0.089)|Lung(1;0.111)		ACAGAGGGGGAGTGACTGTGG	0.577													3	73					0	0	1	0	0	G	11600050	A	G	11600050	3	3	129	1	0	0	0	0	1	0	0	0	17221	304	11	3	23	3	VGLL4	3	11600050	Missense_Mutation	SNP	A	TCGA-DU-8168-01A-11D-2253-08		11600050	186422380	9	21533											
DNAH1	25981	broad.mit.edu	37	3	52420205	52420205	+	Silent	SNP	G	G	A			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr3:52420205G>A	ENST00000420323.2	+	55	8916	c.8655G>A	c.(8653-8655)cgG>cgA	p.R2885R		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	2885	Stalk (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		AGGAGACCCGGAATTCAGTGC	0.557													6	5					0	0	1	0	0	A	52420205	G	A	52420205	2	1	129	1	0	0	0	0	0	0	0	1	4625	1161	41	2		2	DNAH1	3	52420205	Silent	SNP	G	TCGA-DU-8168-01A-11D-2253-08	40820155	52420205	145602225	10	21534											
PBRM1	55193	broad.mit.edu	37	3	52661373	52661376	+	Frame_Shift_Del	DEL	TCTT	TCTT	-			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr3:52661373_52661376delTCTT	ENST00000356770.4	-	12	1360_1363	c.1358_1361delAAGA	c.(1357-1362)aaagagfs	p.KE453fs	PBRM1_ENST00000296302.7_Frame_Shift_Del_p.KE485fs|PBRM1_ENST00000394830.3_Frame_Shift_Del_p.KE485fs|PBRM1_ENST00000409767.1_Frame_Shift_Del_p.KE485fs|PBRM1_ENST00000410007.1_Frame_Shift_Del_p.KE485fs|PBRM1_ENST00000337303.4_Frame_Shift_Del_p.KE485fs|PBRM1_ENST00000409114.3_Frame_Shift_Del_p.KE485fs|PBRM1_ENST00000409057.1_Frame_Shift_Del_p.KE485fs			Q86U86	PB1_HUMAN	polybromo 1	485	Bromo 3.				chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		CCTGGCAAGCTCTTTCTTCTTTGC	0.422			"Mis, N, F, S, D, O"		"clear cell renal carcinoma, breast"								27	22	---	---	---	---						-	52661376	TCTT	-	52661373	7	5	129	1	0	1	0	1	0	0	0	0	11538	1551	54	0	3515	0	PBRM1	3	52661373	Frame_Shift_Del	DEL	TCTT	TCGA-DU-8168-01A-11D-2253-08	241168	52661373	145361057	11	21535											
PLXND1	23129	broad.mit.edu	37	3	129290353	129290353	+	Splice_Site	SNP	G	G	A	rs146029556		TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr3:129290353G>A	ENST00000393239.1	-	17	3513	c.3335C>T	c.(3334-3336)aCg>aTg	p.T1112M	PLXND1_ENST00000324093.4_Splice_Site_p.T1112M			Q9Y4D7	PLXD1_HUMAN	plexin D1	1112	IPT/TIG 3.				axon guidance	integral to membrane|intracellular|plasma membrane			PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						ATGCCTCACCGTGGGCTCCCG	0.662													23	35					0	0	1	0	0	A	129290353	G	A	129290353	5	1	129	1	0	0	0	0	0	0	1	0	12175	1159	40	1	2522	1	PLXND1	3	129290353	Splice_Site	SNP	G	TCGA-DU-8168-01A-11D-2253-08	76628980	129290353	68732077	12	21536											
BFSP2	8419	broad.mit.edu	37	3	133191307	133191307	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr3:133191307C>T	ENST00000302334.2	+	6	1231	c.1142C>T	c.(1141-1143)gCg>gTg	p.A381V	BFSP2_ENST00000511434.1_3'UTR	NM_003571.2	NP_003562.1	Q13515	BFSP2_HUMAN	beaded filament structural protein 2, phakinin	381	Rod.				response to stimulus|visual perception	cytoplasm|intermediate filament|membrane	structural constituent of cytoskeleton|structural constituent of eye lens			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|urinary_tract(1)	13						CGAGCGGAGGCGGAGCAGCAG	0.667													16	25					0	0	1	0	0	T	133191307	C	T	133191307	3	4	129	1	0	0	0	0	1	0	0	0	1415	768	27	1	1164	1	BFSP2	3	133191307	Missense_Mutation	SNP	C	TCGA-DU-8168-01A-11D-2253-08	3900954	133191307	64831123	13	21537											
PRR23B	389151	broad.mit.edu	37	3	138738764	138738764	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr3:138738764C>T	ENST00000329447.5	-	1	1004	c.740G>A	c.(739-741)cGc>cAc	p.R247H	MRPS22_ENST00000495075.1_Intron	NM_001013650.2	NP_001013672.1	Q6ZRT6	PR23B_HUMAN	proline rich 23B	247	Pro-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GAGCGGCGAGCGCGCGTGGGG	0.657													6	18					0	0	1	0	0	T	138738764	C	T	138738764	3	4	129	1	0	0	0	0	1	0	0	0	12646	768	27	1	61	1	PRR23B	3	138738764	Missense_Mutation	SNP	C	TCGA-DU-8168-01A-11D-2253-08	5547457	138738764	59283666	14	21538											
PIK3CA	5290	broad.mit.edu	37	3	178916938	178916940	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr3:178916938_178916940delGAA	ENST00000263967.3	+	2	482_484	c.325_327delGAA	c.(325-327)gaadel	p.E110del		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	110					epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E109del(3)|p.G106_R108del(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			AGGCAACCGTGAAGAAAAGATCC	0.34		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			39	57	---	---	---	---						-	178916940	GAA	-	178916938	7	5	129	1	0	1	0	1	0	0	0	0	11961	1291	45	0	327	0	PIK3CA	3	178916938	In_Frame_Del	DEL	GAA	TCGA-DU-8168-01A-11D-2253-08	40178174	178916938	19105492	15	21539											
WDFY3	23001	broad.mit.edu	37	4	85715705	85715708	+	Frame_Shift_Del	DEL	CAAT	CAAT	-			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr4:85715705_85715708delCAAT	ENST00000322366.6	-	21	3858_3861	c.3451_3454delATTG	c.(3451-3456)attgttfs	p.IV1151fs	WDFY3_ENST00000295888.4_Frame_Shift_Del_p.IV1151fs			Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	1151						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		TTGGTGGAAACAATCAGAGATCGG	0.358													49	159	---	---	---	---						-	85715708	CAAT	-	85715705	7	5	129	1	0	1	0	1	0	0	0	0	17330	478	17	0	7318	0	WDFY3	4	85715705	Frame_Shift_Del	DEL	CAAT	TCGA-DU-8168-01A-11D-2253-08		85715705	105438571	16	21540											
LRAT	9227	broad.mit.edu	37	4	155665633	155665633	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr4:155665633A>G	ENST00000336356.3	+	2	408	c.155A>G	c.(154-156)gAg>gGg	p.E52G	LRAT_ENST00000507827.1_Missense_Mutation_p.E52G	NM_004744.3	NP_004735.2	O95237	LRAT_HUMAN	lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase)	52					response to stimulus|retinoid metabolic process|steroid metabolic process|visual perception	endoplasmic reticulum membrane|integral to membrane|multivesicular body|perinuclear region of cytoplasm|rough endoplasmic reticulum	phosphatidylcholine-retinol O-acyltransferase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)	16	all_hematologic(180;0.215)	Renal(120;0.0458)			Vitamin A(DB00162)	GACGTGCTGGAGGTGCCCCGG	0.572													4	103					0	0	1	0	0	G	155665633	A	G	155665633	3	3	129	1	0	0	0	0	1	0	0	0	8975	304	11	3	157	3	LRAT	4	155665633	Missense_Mutation	SNP	A	TCGA-DU-8168-01A-11D-2253-08	69949928	155665633	35488643	17	21541											
SAP30	8819	broad.mit.edu	37	4	174292617	174292619	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr4:174292617_174292619delAGA	ENST00000296504.3	+	1	524_526	c.284_286delAGA	c.(283-288)cagaag>cag	p.K97del		NM_003864.3	NP_003855.1	O75446	SAP30_HUMAN	Sin3A-associated protein, 30kDa	97	Interaction with NCOR1 (By similarity).				transcription, DNA-dependent	histone deacetylase complex	DNA binding|metal ion binding|protein binding|transcription corepressor activity			large_intestine(1)|lung(2)|ovary(1)	4		Prostate(90;0.00601)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_neural(102;0.0837)|all_hematologic(60;0.107)		all cancers(43;1.15e-17)|Epithelial(43;4.33e-16)|OV - Ovarian serous cystadenocarcinoma(60;6.62e-09)|STAD - Stomach adenocarcinoma(60;0.00278)|GBM - Glioblastoma multiforme(59;0.00659)|LUSC - Lung squamous cell carcinoma(193;0.0919)		AGCATCTCCCAGAAGAAGGTGAA	0.675													22	50	---	---	---	---						-	174292619	AGA	-	174292617	7	5	129	1	0	1	0	1	0	0	0	0	13886	188	7	0	286	0	SAP30	4	174292617	In_Frame_Del	DEL	AGA	TCGA-DU-8168-01A-11D-2253-08	18626984	174292617	16861659	18	21542											
ERBB2IP	55914	broad.mit.edu	37	5	65338967	65338967	+	Silent	SNP	C	C	A			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr5:65338967C>A	ENST00000284037.5	+	16	1758	c.1369C>A	c.(1369-1371)Cgg>Agg	p.R457R	ERBB2IP_ENST00000511297.1_Silent_p.R457R|ERBB2IP_ENST00000380943.2_Silent_p.R457R|ERBB2IP_ENST00000380936.1_Silent_p.R457R|ERBB2IP_ENST00000508515.1_Silent_p.R457R|ERBB2IP_ENST00000380939.2_Silent_p.R457R|ERBB2IP_ENST00000416865.2_Intron|ERBB2IP_ENST00000380938.2_Silent_p.R457R|ERBB2IP_ENST00000380935.1_Silent_p.R457R|ERBB2IP_ENST00000506030.1_Silent_p.R457R	NM_001253697.1	NP_001240626.1	Q96RT1	LAP2_HUMAN	erbb2 interacting protein	457					basal protein localization|cell adhesion|cell cycle|cell growth|epidermal growth factor receptor signaling pathway|establishment or maintenance of epithelial cell apical/basal polarity|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization	basement membrane|cytoplasm|hemidesmosome|nucleus	ErbB-2 class receptor binding|integrin binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2)	36		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)		GAGGAAACAGCGGGCTCAAGT	0.353													3	66					1	1	1	1	0	A	65338967	C	A	65338967	2	1	129	1	0	0	0	0	0	0	0	1	5235	759	27	5		5	ERBB2IP	5	65338967	Silent	SNP	C	TCGA-DU-8168-01A-11D-2253-08		65338967	115576293	19	21543											
THBS4	7060	broad.mit.edu	37	5	79335903	79335903	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr5:79335903T>G	ENST00000350881.2	+	2	282	c.92T>G	c.(91-93)tTt>tGt	p.F31C	THBS4_ENST00000511733.1_5'UTR	NM_003248.4	NP_003239.2	P35443	TSP4_HUMAN	thrombospondin 4	31	TSP N-terminal.				endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation	basement membrane|extracellular space	calcium ion binding|heparin binding|integrin binding|structural molecule activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		TTCCCAGTCTTTGACCTTCTC	0.493													52	66					0	0	1	0	0	G	79335903	T	G	79335903	3	3	129	1	0	0	0	0	1	0	0	0	15916	1841	64	5	98	5	THBS4	5	79335903	Missense_Mutation	SNP	T	TCGA-DU-8168-01A-11D-2253-08	13996936	79335903	101579357	20	21544											
DMXL1	1657	broad.mit.edu	37	5	118479596	118479598	+	In_Frame_Del	DEL	ATT	ATT	-			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr5:118479596_118479598delATT	ENST00000311085.8	+	14	2517_2519	c.2437_2439delATT	c.(2437-2439)attdel	p.I814del	DMXL1_ENST00000539542.1_In_Frame_Del_p.I814del	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	814										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		GCCAGGATGCATTATTGCATTAG	0.286													122	281	---	---	---	---						-	118479598	ATT	-	118479596	7	5	129	1	0	1	0	1	0	0	0	0	4622	217	8	0	2491	0	DMXL1	5	118479596	In_Frame_Del	DEL	ATT	TCGA-DU-8168-01A-11D-2253-08	39143693	118479596	62435664	21	21545											
HSD17B4	3295	broad.mit.edu	37	5	118810104	118810106	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr5:118810104_118810106delGAA	ENST00000504811.1	+	5	488_490	c.304_306delGAA	c.(304-306)gaadel	p.E103del	HSD17B4_ENST00000256216.6_In_Frame_Del_p.E78del|HSD17B4_ENST00000515320.1_In_Frame_Del_p.E60del|HSD17B4_ENST00000510025.1_In_Frame_Del_p.E54del|HSD17B4_ENST00000414835.2_5'UTR	NM_001199291.1	NP_001186220.1	P51659	DHB4_HUMAN	hydroxysteroid (17-beta) dehydrogenase 4	78	(3R)-hydroxyacyl-CoA dehydrogenase.				bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	3-hydroxyacyl-CoA dehydrogenase activity|3alpha,7alpha,12alpha-trihydroxy-5beta-cholest-24-enoyl-CoA hydratase activity|estradiol 17-beta-dehydrogenase activity|isomerase activity|long-chain-enoyl-CoA hydratase activity|protein binding|sterol binding|sterol transporter activity	p.E77E(1)		breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(2)	25		all_cancers(142;0.0206)|Prostate(80;0.0322)		OV - Ovarian serous cystadenocarcinoma(64;0.000247)|Epithelial(69;0.000849)|all cancers(49;0.0122)	NADH(DB00157)	AGATTCAGTGGAAGAAGGAGAGA	0.419													79	120	---	---	---	---						-	118810106	GAA	-	118810104	7	5	129	1	0	1	0	1	0	0	0	0	7427	1175	41	0	243	0	HSD17B4	5	118810104	In_Frame_Del	DEL	GAA	TCGA-DU-8168-01A-11D-2253-08	330508	118810104	62105156	22	21546											
NDST1	3340	broad.mit.edu	37	5	149927941	149927941	+	Silent	SNP	C	C	T			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr5:149927941C>T	ENST00000261797.6	+	12	2809	c.2307C>T	c.(2305-2307)caC>caT	p.H769H	NDST1_ENST00000523767.1_Intron	NM_001543.4	NP_001534.1	P52848	NDST1_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1	769	Heparan sulfate N-sulfotransferase 1.				heparan sulfate proteoglycan biosynthetic process|inflammatory response	Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	34		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GTGCCTATCACGCCAACCAGG	0.627													18	32					0	0	1	0	0	T	149927941	C	T	149927941	2	4	129	1	0	0	0	0	0	0	0	1	10302	535	19	1		1	NDST1	5	149927941	Silent	SNP	C	TCGA-DU-8168-01A-11D-2253-08	31117837	149927941	30987319	23	21547											
FAT2	2196	broad.mit.edu	37	5	150945298	150945298	+	Silent	SNP	C	C	T			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr5:150945298C>T	ENST00000261800.5	-	1	3207	c.3195G>A	c.(3193-3195)ggG>ggA	p.G1065G		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	1065	Cadherin 9.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ACTGGAGCTCCCCATCCAAGC	0.617													3	54					0	0	1	0	0	T	150945298	C	T	150945298	2	4	129	1	0	0	0	0	0	0	0	1	5723	610	22	2		2	FAT2	5	150945298	Silent	SNP	C	TCGA-DU-8168-01A-11D-2253-08	1017357	150945298	29969962	24	21548											
GLRA1	2741	broad.mit.edu	37	5	151239373	151239373	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr5:151239373C>T	ENST00000274576.4	-	4	741	c.449G>A	c.(448-450)cGg>cAg	p.R150Q	GLRA1_ENST00000545569.1_Missense_Mutation_p.R67Q|GLRA1_ENST00000471351.2_5'UTR|GLRA1_ENST00000455880.2_Missense_Mutation_p.R150Q	NM_000171.3|NM_001146040.1	NP_000162.2|NP_001139512.1	P23415	GLRA1_HUMAN	glycine receptor, alpha 1	150					muscle contraction|negative regulation of transmission of nerve impulse|neuropeptide signaling pathway|positive regulation of acrosome reaction|regulation of membrane potential|startle response	cell junction|chloride channel complex|integral to plasma membrane|intracellular membrane-bounded organelle|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|protein binding|receptor activity|taurine binding|transmitter-gated ion channel activity	p.R150Q(1)		breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	23		all_hematologic(541;0.0341)|Medulloblastoma(196;0.0912)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Ethanol(DB00898)|Glycine(DB00145)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	ATTCCCATTCCGGGAGATCCT	0.522													21	38					0	0	1	0	0	T	151239373	C	T	151239373	3	4	129	1	0	0	0	0	1	0	0	0	6496	652	23	1	948	1	GLRA1	5	151239373	Missense_Mutation	SNP	C	TCGA-DU-8168-01A-11D-2253-08	294075	151239373	29675887	25	21549											
CYFIP2	26999	broad.mit.edu	37	5	156746913	156746915	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr5:156746913_156746915delGAA	ENST00000347377.6	+	14	1931_1933	c.1500_1502delGAA	c.(1498-1503)cggaag>cgg	p.K503del	CYFIP2_ENST00000541131.1_In_Frame_Del_p.K428del|CYFIP2_ENST00000318218.6_In_Frame_Del_p.K503del|CYFIP2_ENST00000442283.2_5'UTR|CYFIP2_ENST00000521420.1_In_Frame_Del_p.K477del|CYFIP2_ENST00000522463.1_In_Frame_Del_p.K307del|CYFIP2_ENST00000377576.3_In_Frame_Del_p.K503del|CYFIP2_ENST00000435847.2_In_Frame_Del_p.K177del	NM_001037332.2	NP_001032409.2	Q96F07	CYFP2_HUMAN	cytoplasmic FMR1 interacting protein 2	503					apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding			breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			AGGCGGTACGGAAGAAGAAGAAT	0.567													51	322	---	---	---	---						-	156746915	GAA	-	156746913	7	5	129	1	0	1	0	1	0	0	0	0	4161	1161	41	0	1550	0	CYFIP2	5	156746913	In_Frame_Del	DEL	GAA	TCGA-DU-8168-01A-11D-2253-08	5507540	156746913	24168347	26	21550											
DSP	1832	broad.mit.edu	37	6	7583354	7583354	+	Silent	SNP	C	C	A			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr6:7583354C>A	ENST00000379802.3	+	24	6200	c.5859C>A	c.(5857-5859)acC>acA	p.T1953T	DSP_ENST00000418664.2_Silent_p.T1354T	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	1953	Globular 2.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		ATCGAGAGACCCAGACTGAGT	0.522													29	32					1.30897e-18	1.46763e-18	1	1	0	A	7583354	C	A	7583354	2	1	129	1	0	0	0	0	0	0	0	1	4807	610	22	5		5	DSP	6	7583354	Silent	SNP	C	TCGA-DU-8168-01A-11D-2253-08		7583354	163531713	27	21551											
SLC44A4	80736	broad.mit.edu	37	6	31832672	31832674	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr6:31832672_31832674delAAG	ENST00000544672.1	-	19	1913_1915	c.1617_1619delCTT	c.(1615-1620)ttcttt>ttt	p.539_540FF>F	SLC44A4_ENST00000375562.4_In_Frame_Del_p.573_574FF>F|SLC44A4_ENST00000229729.6_In_Frame_Del_p.615_616FF>F	NM_001178045.1	NP_001171516.1	Q53GD3	CTL4_HUMAN	solute carrier family 44, member 4	615						integral to membrane|plasma membrane	choline transmembrane transporter activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(1)|urinary_tract(2)	35					Choline(DB00122)	GGAGAAAAAAAAGAAGGACAGGA	0.567													7	25	---	---	---	---						-	31832674	AAG	-	31832672	7	5	129	1	0	1	0	1	0	0	0	0	14693	14	1	0	297	0	SLC44A4	6	31832672	In_Frame_Del	DEL	AAG	TCGA-DU-8168-01A-11D-2253-08	24249318	31832672	139282395	28	21552											
HDAC2	3066	broad.mit.edu	37	6	114277817	114277818	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr6:114277817_114277818delAA	ENST00000519065.1	-	4	699_700	c.323_324delTT	c.(322-324)tttfs	p.F108fs	HDAC2_ENST00000519108.1_Frame_Shift_Del_p.F78fs|HDAC2_ENST00000368632.2_Frame_Shift_Del_p.F78fs|HDAC2_ENST00000398283.2_Frame_Shift_Del_p.F202fs			Q92769	HDAC2_HUMAN	histone deacetylase 2	108	Histone deacetylase.				blood coagulation|dendrite development|embryonic digit morphogenesis|epidermal cell differentiation|eyelid development in camera-type eye|fungiform papilla formation|hair follicle placode formation|maintenance of chromatin silencing|negative regulation of apoptosis|negative regulation of cell cycle|negative regulation of neuron projection development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|odontogenesis of dentine-containing tooth|positive regulation of cell proliferation|positive regulation of proteolysis|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|ESC/E(Z) complex|NuRD complex|Sin3 complex	chromatin binding|enzyme binding|histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|sequence-specific DNA binding|transcription factor binding	p.F202fs*1(1)|p.F108fs*1(1)		biliary_tract(1)|central_nervous_system(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(2)	27		all_cancers(87;0.000629)|all_epithelial(87;0.00274)|Colorectal(196;0.0317)|all_lung(197;0.24)		all cancers(137;0.00318)|OV - Ovarian serous cystadenocarcinoma(136;0.00569)|Epithelial(106;0.0112)|GBM - Glioblastoma multiforme(226;0.0832)	Vorinostat(DB02546)	GACAAAACTCAAAGAGTCCATC	0.361													16	87	---	---	---	---						-	114277818	AA	-	114277817	7	5	129	1	0	1	0	1	0	0	0	0	7048	127	5	0	1186	0	HDAC2	6	114277817	Frame_Shift_Del	DEL	AA	TCGA-DU-8168-01A-11D-2253-08	82445145	114277817	56837250	29	21553											
TSPYL4	23270	broad.mit.edu	37	6	116574192	116574195	+	Frame_Shift_Del	DEL	GAAA	GAAA	-			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr6:116574192_116574195delGAAA	ENST00000420283.1	-	1	1066_1069	c.977_980delTTTC	c.(976-981)ctttccfs	p.LS326fs		NM_021648.4	NP_067680.3	Q9UJ04	TSYL4_HUMAN	TSPY-like 4	326					nucleosome assembly	nucleus				endometrium(2)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(2)	11		all_cancers(87;0.0144)|all_epithelial(87;0.021)|Colorectal(196;0.234)		all cancers(137;0.045)|OV - Ovarian serous cystadenocarcinoma(136;0.0666)|GBM - Glioblastoma multiforme(226;0.095)|Epithelial(106;0.125)		GATTGGAGTGGAAAGAGACACCAC	0.525													8	75	---	---	---	---						-	116574195	GAAA	-	116574192	7	5	129	1	0	1	0	1	0	0	0	0	16722	1174	41	0	268	0	TSPYL4	6	116574192	Frame_Shift_Del	DEL	GAAA	TCGA-DU-8168-01A-11D-2253-08	2296375	116574192	54540875	30	21554											
MED23	9439	broad.mit.edu	37	6	131917229	131917229	+	Silent	SNP	A	A	G			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr6:131917229A>G	ENST00000403834.3	-	22	3044	c.2871T>C	c.(2869-2871)taT>taC	p.Y957Y	MED23_ENST00000479213.1_5'UTR|MED23_ENST00000368058.1_Silent_p.Y957Y|MED23_ENST00000368068.3_Silent_p.Y951Y|MED23_ENST00000545957.1_Silent_p.Y592Y|MED23_ENST00000368060.3_Silent_p.Y951Y|MED23_ENST00000354577.4_Silent_p.Y957Y			Q9ULK4	MED23_HUMAN	mediator complex subunit 23	951					regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor complex	protein binding|transcription coactivator activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	44	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)		AGATGGGCAGATAGGGAGACT	0.423													18	132					0	0	1	0	0	G	131917229	A	G	131917229	2	3	129	1	0	0	0	0	0	0	0	1	9491	340	12	3		3	MED23	6	131917229	Silent	SNP	A	TCGA-DU-8168-01A-11D-2253-08	15343037	131917229	39197838	31	21555											
CHN2	1124	broad.mit.edu	37	7	29519880	29519881	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr7:29519880_29519881delTT	ENST00000409041.4	+	1	395_396	c.154_155delTT	c.(154-156)tttfs	p.F52fs	CHN2_ENST00000435288.2_Intron|CHN2_ENST00000539406.1_Intron|CHN2_ENST00000424025.2_Intron|CHN2_ENST00000495789.2_Intron|CHN2_ENST00000222792.6_Intron|CHN2_ENST00000546235.1_Intron|CHN2_ENST00000421775.2_Frame_Shift_Del_p.F52fs|CHN2_ENST00000439711.2_Frame_Shift_Del_p.F52fs|CHN2_ENST00000539389.1_Intron	NM_001039936.1	NP_001035025.1	P52757	CHIO_HUMAN	chimerin 2	401					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|membrane	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity			breast(2)|endometrium(3)|large_intestine(2)|lung(12)|ovary(2)|urinary_tract(2)	23						TCTCAAACTCTTTGCCTGTTCA	0.525													15	93	---	---	---	---						-	29519881	TT	-	29519880	7	5	129	1	0	1	0	1	0	0	0	0	3385	1609	56	0	756	0	CHN2	7	29519880	Frame_Shift_Del	DEL	TT	TCGA-DU-8168-01A-11D-2253-08		29519880	129618783	32	21556											
ZMIZ2	83637	broad.mit.edu	37	7	44799776	44799776	+	Silent	SNP	C	C	T			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr7:44799776C>T	ENST00000309315.4	+	8	1143	c.1020C>T	c.(1018-1020)ggC>ggT	p.G340G	ZMIZ2_ENST00000441627.1_Silent_p.G340G|ZMIZ2_ENST00000265346.7_Intron|ZMIZ2_ENST00000413916.1_Intron|ZMIZ2_ENST00000433667.1_Silent_p.G308G	NM_031449.3	NP_113637.3	Q8NF64	ZMIZ2_HUMAN	zinc finger, MIZ-type containing 2	340	Pro-rich.				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear replication fork	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding			breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						ACGGGCAGGGCGCCAGCTTCA	0.687													8	55					0	0	1	0	0	T	44799776	C	T	44799776	2	4	129	1	0	0	0	0	0	0	0	1	17755	755	27	1		1	ZMIZ2	7	44799776	Silent	SNP	C	TCGA-DU-8168-01A-11D-2253-08	15279896	44799776	114338887	33	21557											
HGF	3082	broad.mit.edu	37	7	81372731	81372731	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr7:81372731C>T	ENST00000222390.5	-	7	1029	c.803G>A	c.(802-804)aGg>aAg	p.R268K	HGF_ENST00000457544.2_Missense_Mutation_p.R263K|HGF_ENST00000453411.1_Missense_Mutation_p.R263K|HGF_ENST00000444829.2_Missense_Mutation_p.R268K	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN	hepatocyte growth factor (hepapoietin A; scatter factor)	268	Kringle 2.				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						GCACCATGGCCTCGGCTGGCC	0.473													46	41					0	0	1	0	0	T	81372731	C	T	81372731	3	4	129	1	0	0	0	0	1	0	0	0	7126	681	24	2	1443	2	HGF	7	81372731	Missense_Mutation	SNP	C	TCGA-DU-8168-01A-11D-2253-08	36572955	81372731	77765932	34	21558											
KLHDC10	23008	broad.mit.edu	37	7	129710591	129710591	+	Silent	SNP	T	T	G			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr7:129710591T>G	ENST00000335420.5	+	1	242	c.108T>G	c.(106-108)ggT>ggG	p.G36G		NM_014997.3	NP_055812.1	Q6PID8	KLD10_HUMAN	kelch domain containing 10	36	Gly-rich.									breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|liver(2)|lung(10)|prostate(1)	17						gcagcgggggtcgggggACTG	0.766													5	18					0	0	1	0	0	G	129710591	T	G	129710591	2	3	129	1	0	0	0	0	0	0	0	1	8398	1654	58	5		5	KLHDC10	7	129710591	Silent	SNP	T	TCGA-DU-8168-01A-11D-2253-08	48337860	129710591	29428072	35	21559											
SLC37A3	84255	broad.mit.edu	37	7	140055533	140055533	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr7:140055533A>G	ENST00000326232.9	-	7	756	c.553T>C	c.(553-555)Tgt>Cgt	p.C185R	SLC37A3_ENST00000340308.3_Missense_Mutation_p.C185R|SLC37A3_ENST00000429996.2_Missense_Mutation_p.L136P|SLC37A3_ENST00000447932.2_Missense_Mutation_p.C185R	NM_207113.1	NP_996996.1	Q8NCC5	SPX3_HUMAN	solute carrier family 37, member 3	185					carbohydrate transport|transmembrane transport	integral to membrane				endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|stomach(3)	24	Melanoma(164;0.0142)					ACCGAAGCACAGGCACTCCAG	0.473													3	82					0	0	1	0	0	G	140055533	A	G	140055533	3	3	129	1	0	0	0	0	1	0	0	0	14654	188	7	3	1116	3	SLC37A3	7	140055533	Missense_Mutation	SNP	A	TCGA-DU-8168-01A-11D-2253-08	10344942	140055533	19083130	36	21560											
CHRNB3	1142	broad.mit.edu	37	8	42587448	42587448	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr8:42587448C>T	ENST00000289957.2	+	5	1126	c.998C>T	c.(997-999)cCc>cTc	p.P333L		NM_000749.3	NP_000740.1	Q05901	ACHB3_HUMAN	cholinergic receptor, nicotinic, beta 3 (neuronal)	333					synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity			endometrium(4)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25	all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869)			CCCATGGCCCCCTGGGTTAAG	0.458													7	175					0	0	1	0	0	T	42587448	C	T	42587448	3	4	129	1	0	0	0	0	1	0	0	0	3414	623	22	2	1016	2	CHRNB3	8	42587448	Missense_Mutation	SNP	C	TCGA-DU-8168-01A-11D-2253-08		42587448	103776574	37	21561											
PREX2	80243	broad.mit.edu	37	8	69005869	69005869	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr8:69005869C>A	ENST00000288368.4	+	21	2557	c.2280C>A	c.(2278-2280)agC>agA	p.S760R	PREX2_ENST00000529398.1_3'UTR|RP11-403D15.2_ENST00000526901.1_RNA	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	760					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						TTTATAATAGCATTGAGAGTG	0.423													46	91					8.72198e-27	1.02449e-26	1	1	0	A	69005869	C	A	69005869	3	1	129	1	0	0	0	0	1	0	0	0	12529	709	25	5	2362	5	PREX2	8	69005869	Missense_Mutation	SNP	C	TCGA-DU-8168-01A-11D-2253-08	26418421	69005869	77358153	38	21562											
TMEM71	137835	broad.mit.edu	37	8	133764099	133764099	+	Silent	SNP	G	G	A			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr8:133764099G>A	ENST00000356838.3	-	4	388	c.246C>T	c.(244-246)tgC>tgT	p.C82C	TMEM71_ENST00000523829.1_Silent_p.C82C|TMEM71_ENST00000517538.1_5'UTR|TMEM71_ENST00000377901.4_Silent_p.C82C	NM_144649.2	NP_653250.2	Q6P5X7	TMM71_HUMAN	transmembrane protein 71	82						integral to membrane		p.C82C(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2)	16	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			CATCTTTGTCGCACAGGAAGC	0.468													65	94					0	0	1	0	0	A	133764099	G	A	133764099	2	1	129	1	0	0	0	0	0	0	0	1	16260	1079	38	1		1	TMEM71	8	133764099	Silent	SNP	G	TCGA-DU-8168-01A-11D-2253-08	64758230	133764099	12599923	39	21563											
PAEP	5047	broad.mit.edu	37	9	138453690	138453690	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr9:138453690delG	ENST00000479141.1	+	1	87	c.43delG	c.(43-45)ggtfs	p.G15fs	PAEP_ENST00000277508.5_Frame_Shift_Del_p.G15fs|PAEP_ENST00000371766.2_Frame_Shift_Del_p.G15fs	NM_002571.2	NP_002562.2	P09466	PAEP_HUMAN	progestagen-associated endometrial protein	15					multicellular organismal development	extracellular region	binding|transporter activity			cervix(1)|endometrium(1)|lung(1)|prostate(1)|skin(1)|stomach(1)	6				OV - Ovarian serous cystadenocarcinoma(145;3.39e-07)|Epithelial(140;1.11e-06)|all cancers(34;2.04e-05)		CCTGGTCTGTGGTGTCCCGGC	0.667													2	4	---	---	---	---						-	138453690	G	-	138453690	7	5	129	1	0	1	0	1	0	0	0	0	11429	1348	47	0	45	0	PAEP	9	138453690	Frame_Shift_Del	DEL	G	TCGA-DU-8168-01A-11D-2253-08		138453690	2759741	40	21564											
NOTCH1	4851	broad.mit.edu	37	9	139412252	139412254	+	In_Frame_Del	DEL	CGT	CGT	-			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr9:139412252_139412254delCGT	ENST00000277541.6	-	8	1466_1468	c.1391_1393delACG	c.(1390-1395)gacgcc>gcc	p.D464del		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	464	EGF-like 12; calcium-binding (Potential).				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		AGGCAGGTGGCGTCGTTCTGGCA	0.665			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			25	132	---	---	---	---						-	139412254	CGT	-	139412252	7	5	129	1	0	1	0	1	0	0	0	0	10594	768	27	0	6382	0	NOTCH1	9	139412252	In_Frame_Del	DEL	CGT	TCGA-DU-8168-01A-11D-2253-08	958562	139412252	1801179	41	21565											
NOTCH1	4851	broad.mit.edu	37	9	139413070	139413072	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr9:139413070_139413072delAGA	ENST00000277541.6	-	6	1145_1147	c.1070_1072delTCT	c.(1069-1074)ttctac>tac	p.F357del		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	357	EGF-like 9; calcium-binding (Potential).				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	p.F357delF(4)		breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CACTCGCAGTAGAAGGAGGCCAC	0.655			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			10	20	---	---	---	---						-	139413072	AGA	-	139413070	7	5	129	1	0	1	0	1	0	0	0	0	10594	420	15	0	6711	0	NOTCH1	9	139413070	In_Frame_Del	DEL	AGA	TCGA-DU-8168-01A-11D-2253-08	818	139413070	1800361	42	21566											
NEBL	10529	broad.mit.edu	37	10	21097453	21097453	+	Missense_Mutation	SNP	G	G	A	rs143149169		TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr10:21097453G>A	ENST00000377122.4	-	26	3143	c.2747C>T	c.(2746-2748)cCg>cTg	p.P916L	NEBL_ENST00000417816.2_Intron|NEBL_ENST00000377159.4_Intron	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN	nebulette	916	Linker.				regulation of actin filament length		actin binding|structural constituent of muscle			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						TTCATCAGACGGTCTTGTTAC	0.408													4	101					0	0	1	0	0	A	21097453	G	A	21097453	3	1	129	1	0	0	0	0	1	0	0	0	10350	1116	39	1	309	1	NEBL	10	21097453	Missense_Mutation	SNP	G	TCGA-DU-8168-01A-11D-2253-08		21097453	114437294	43	21567											
POLR3A	11128	broad.mit.edu	37	10	79773462	79773462	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr10:79773462G>T	ENST00000372371.3	-	11	1655	c.1518C>A	c.(1516-1518)aaC>aaA	p.N506K	POLR3A_ENST00000484760.1_5'UTR	NM_007055.3	NP_008986.2	O14802	RPC1_HUMAN	polymerase (RNA) III (DNA directed) polypeptide A, 155kDa	506					innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding			breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)			GAAGATGAAGGTTCATTTCAT	0.478													45	71					2.43468e-25	2.8151e-25	1	1	0	T	79773462	G	T	79773462	3	4	129	1	0	0	0	0	1	0	0	0	12276	1252	44	5	2738	5	POLR3A	10	79773462	Missense_Mutation	SNP	G	TCGA-DU-8168-01A-11D-2253-08	58676009	79773462	55761285	44	21568											
FANK1	92565	broad.mit.edu	37	10	127668874	127668874	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr10:127668874A>G	ENST00000368695.1	+	2	262	c.140A>G	c.(139-141)gAc>gGc	p.D47G	FANK1_ENST00000449042.2_Missense_Mutation_p.D47G|FANK1_ENST00000368693.1_Missense_Mutation_p.D53G|FANK1_ENST00000368689.1_Missense_Mutation_p.D47G	NM_145235.3	NP_660278.3	Q8TC84	FANK1_HUMAN	fibronectin type III and ankyrin repeat domains 1	53	Fibronectin type-III.					cytoplasm|nucleus				central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(10)|ovary(1)|urinary_tract(1)	21		all_lung(145;0.00752)|Lung NSC(174;0.0115)|Colorectal(57;0.0847)|all_neural(114;0.0936)				GAAGAAGAAGACCCCAAAATG	0.428													30	30					0	0	1	0	0	G	127668874	A	G	127668874	3	3	129	1	0	0	0	0	1	0	0	0	5705	275	10	3	164	3	FANK1	10	127668874	Missense_Mutation	SNP	A	TCGA-DU-8168-01A-11D-2253-08	47895412	127668874	7865873	45	21569											
TCERG1L	256536	broad.mit.edu	37	10	132944858	132944861	+	Frame_Shift_Del	DEL	CAGA	CAGA	-			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr10:132944858_132944861delCAGA	ENST00000368642.4	-	7	1182_1185	c.1097_1100delTCTG	c.(1096-1101)gtctggfs	p.VW366fs		NM_174937.3	NP_777597.2	Q5VWI1	TCRGL_HUMAN	transcription elongation regulator 1-like	366	WW 2.									cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	31		all_cancers(35;1.22e-10)|all_epithelial(44;2.65e-09)|Lung NSC(174;0.00188)|all_lung(145;0.00307)|Melanoma(40;0.0179)|all_neural(114;0.0424)|Breast(234;0.0743)|Colorectal(57;0.09)		all cancers(32;0.000899)|OV - Ovarian serous cystadenocarcinoma(35;0.0021)|Epithelial(32;0.00276)		GGGCTTCTCCCAGACAGACAGGTG	0.554													15	45	---	---	---	---						-	132944861	CAGA	-	132944858	7	5	129	1	0	1	0	1	0	0	0	0	15746	595	21	0	684	0	TCERG1L	10	132944858	Frame_Shift_Del	DEL	CAGA	TCGA-DU-8168-01A-11D-2253-08	5275984	132944858	2589889	46	21570											
TALDO1	6888	broad.mit.edu	37	11	755990	755990	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr11:755990G>A	ENST00000319006.3	+	2	362	c.209G>A	c.(208-210)cGg>cAg	p.R70Q	TALDO1_ENST00000528097.1_Missense_Mutation_p.R70Q			P37837	TALDO_HUMAN	transaldolase 1	70					energy reserve metabolic process|xylulose biosynthetic process	cytosol	protein binding|sedoheptulose-7-phosphate:D-glyceraldehyde-3-phosphate glyceronetransferase activity			breast(1)|kidney(2)|large_intestine(5)|lung(4)|prostate(2)	14		all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198)		all cancers(45;4.66e-26)|Epithelial(43;2.97e-25)|OV - Ovarian serous cystadenocarcinoma(40;1.48e-19)|BRCA - Breast invasive adenocarcinoma(625;4.41e-05)|Lung(200;0.0595)|LUSC - Lung squamous cell carcinoma(625;0.0712)		GCCTATGGCCGGAAGCTGGGC	0.607													3	30					0	0	1	0	0	A	755990	G	A	755990	3	1	129	1	0	0	0	0	1	0	0	0	15600	1116	39	1	215	1	TALDO1	11	755990	Missense_Mutation	SNP	G	TCGA-DU-8168-01A-11D-2253-08		755990	134250526	47	21571											
MUC2	4583	broad.mit.edu	37	11	1101611	1101611	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr11:1101611G>A	ENST00000441003.2	+	42	7651	c.7624G>A	c.(7624-7626)Gaa>Aaa	p.E2542K		NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	4904						inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	GCTGGGATTCGAAGTGAAGAG	0.642													72	74					0	0	1	0	0	A	1101611	G	A	1101611	3	1	129	1	0	0	0	0	1	0	0	0	10023	1059	37	1	7782	1	MUC2	11	1101611	Missense_Mutation	SNP	G	TCGA-DU-8168-01A-11D-2253-08	345621	1101611	133904905	48	21572											
NLRP14	338323	broad.mit.edu	37	11	7081199	7081199	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr11:7081199C>T	ENST00000299481.4	+	9	3054	c.2708C>T	c.(2707-2709)aCg>aTg	p.T903M		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	903					cell differentiation|multicellular organismal development|spermatogenesis		ATP binding			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		AAGAGCCTGACGCATCTGGAT	0.453													14	151					0	0	1	0	0	T	7081199	C	T	7081199	3	4	129	1	0	0	0	0	1	0	0	0	10523	536	19	1	2738	1	NLRP14	11	7081199	Missense_Mutation	SNP	C	TCGA-DU-8168-01A-11D-2253-08	5979588	7081199	127925317	49	21573											
SAA2	6289	broad.mit.edu	37	11	18269491	18269491	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr11:18269491G>A	ENST00000414546.2	-	2	112	c.68C>T	c.(67-69)tCg>tTg	p.S23L	SAA2-SAA4_ENST00000524555.1_RNA|SAA2_ENST00000526900.1_Missense_Mutation_p.S23L|SAA2_ENST00000256733.4_Missense_Mutation_p.S23L|SAA2_ENST00000528349.1_Missense_Mutation_p.S23L|SAA2_ENST00000530400.1_Missense_Mutation_p.S23L|SAA2_ENST00000529528.1_Missense_Mutation_p.S23L	NM_001127380.2	NP_001120852.1			serum amyloid A2											central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(1)	6						GCCAAGGAACGAAAAGAAGCT	0.498													27	37					0	0	1	0	0	A	18269491	G	A	18269491	3	1	129	1	0	0	0	0	1	0	0	0	13851	1059	37	1	338	1	SAA2	11	18269491	Missense_Mutation	SNP	G	TCGA-DU-8168-01A-11D-2253-08	11188292	18269491	116737025	50	21574											
PTPRJ	5795	broad.mit.edu	37	11	48149530	48149530	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr11:48149530A>G	ENST00000418331.2	+	7	1644	c.1292A>G	c.(1291-1293)aAc>aGc	p.N431S	PTPRJ_ENST00000440289.2_Missense_Mutation_p.N431S	NM_002843.3	NP_002834.3	Q12913	PTPRJ_HUMAN	protein tyrosine phosphatase, receptor type, J	431	Fibronectin type-III 4.				contact inhibition|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of T cell receptor signaling pathway|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression	cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane	beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity			breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						ACCTTCTACAACATCACAGTG	0.577													52	62					0	0	1	0	0	G	48149530	A	G	48149530	3	3	129	1	0	0	0	0	1	0	0	0	12856	43	2	3	1318	3	PTPRJ	11	48149530	Missense_Mutation	SNP	A	TCGA-DU-8168-01A-11D-2253-08	29880039	48149530	86856986	51	21575											
CREBZF	58487	broad.mit.edu	37	11	85375242	85375244	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr11:85375242_85375244delCTT	ENST00000527447.1	-	1	902_904	c.676_678delAAG	c.(676-678)aagdel	p.K226del	CREBZF_ENST00000534224.1_Intron|CREBZF_ENST00000398294.2_In_Frame_Del_p.K144del|CREBZF_ENST00000531515.1_Intron	NM_001039618.2	NP_001034707.1	Q9NS37	ZHANG_HUMAN	CREB/ATF bZIP transcription factor	226					negative regulation of gene expression, epigenetic|negative regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|response to virus	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.K226delK(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	9		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)				TCACGTACTCCTTCTTCTTCAGT	0.665											OREG0021274	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	57	128	---	---	---	---						-	85375244	CTT	-	85375242	7	5	129	1	0	1	0	1	0	0	0	0	3886	680	24	0	390	0	CREBZF	11	85375242	In_Frame_Del	DEL	CTT	TCGA-DU-8168-01A-11D-2253-08	37225712	85375242	49631274	52	21576											
FAM90A1	55138	broad.mit.edu	37	12	8376782	8376782	+	Silent	SNP	G	G	A	rs77163560		TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr12:8376782G>A	ENST00000538603.1	-	5	711	c.153C>T	c.(151-153)ggC>ggT	p.G51G	FAM90A1_ENST00000307435.6_Silent_p.G51G	NM_018088.3	NP_060558.3	Q86YD7	F90A1_HUMAN	family with sequence similarity 90, member A1	51							nucleic acid binding|zinc ion binding			endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	25				Kidney(36;0.0866)		TGGCCGTGTGGCCAAAGGCCT	0.537													38	46					0	0	1	0	0	A	8376782	G	A	8376782	2	1	129	1	0	0	0	0	0	0	0	1	5681	1190	42	2		2	FAM90A1	12	8376782	Silent	SNP	G	TCGA-DU-8168-01A-11D-2253-08		8376782	125475113	53	21577											
ITGB7	3695	broad.mit.edu	37	12	53586167	53586169	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr12:53586167_53586169delAAG	ENST00000267082.5	-	14	2331_2333	c.2100_2102delCTT	c.(2098-2103)ttcttg>ttg	p.F700del	ITGB7_ENST00000422257.3_In_Frame_Del_p.F700del|ITGB7_ENST00000550743.2_In_Frame_Del_p.F552del|ITGB7_ENST00000338737.4_In_Frame_Del_p.F552del	NM_000889.1	NP_000880.1	P26010	ITB7_HUMAN	integrin, beta 7	700					cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|regulation of immune response	integrin complex	identical protein binding|metal ion binding|receptor activity			NS(2)|breast(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						ATCCTCCACCAAGAAGAAGAACA	0.567													42	125	---	---	---	---						-	53586169	AAG	-	53586167	7	5	129	1	0	1	0	1	0	0	0	0	7944	131	5	0	306	0	ITGB7	12	53586167	In_Frame_Del	DEL	AAG	TCGA-DU-8168-01A-11D-2253-08	45209385	53586167	80265728	54	21578											
ERBB3	2065	broad.mit.edu	37	12	56495375	56495377	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr12:56495375_56495377delGAA	ENST00000267101.3	+	28	4005_4007	c.3565_3567delGAA	c.(3565-3567)gaadel	p.E1191del	ERBB3_ENST00000549832.1_In_Frame_Del_p.E311del|ERBB3_ENST00000415288.2_In_Frame_Del_p.E1132del|RP11-603J24.9_ENST00000548861.1_Intron|ERBB3_ENST00000450146.2_In_Frame_Del_p.E548del|ERBB3_ENST00000553131.1_In_Frame_Del_p.E432del	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	1191					cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			CCTGGGTACTGAAGAAGAAGATG	0.522													9	75	---	---	---	---						-	56495377	GAA	-	56495375	7	5	129	1	0	1	0	1	0	0	0	0	5236	1291	45	0	3806	0	ERBB3	12	56495375	In_Frame_Del	DEL	GAA	TCGA-DU-8168-01A-11D-2253-08	2909208	56495375	77356520	55	21579											
TIMELESS	8914	broad.mit.edu	37	12	56827689	56827689	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr12:56827689C>G	ENST00000229201.4	-	3	273	c.119G>C	c.(118-120)cGc>cCc	p.R40P	TIMELESS_ENST00000554616.1_Missense_Mutation_p.R40P|TIMELESS_ENST00000553532.1_Missense_Mutation_p.R40P	NM_003920.3	NP_003911.2	Q9UNS1	TIM_HUMAN	timeless circadian clock	40					cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent	nuclear chromatin				NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						CCTCAAATAGCGGATCAGATC	0.542													15	147					0	0	1	0	0	G	56827689	C	G	56827689	3	3	129	1	0	0	0	0	1	0	0	0	15964	768	27	5	3615	5	TIMELESS	12	56827689	Missense_Mutation	SNP	C	TCGA-DU-8168-01A-11D-2253-08	332314	56827689	77024206	56	21580											
ZBTB39	9880	broad.mit.edu	37	12	57398076	57398076	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr12:57398076G>A	ENST00000300101.2	-	2	711	c.626C>T	c.(625-627)aCa>aTa	p.T209I		NM_014830.2	NP_055645.1	O15060	ZBT39_HUMAN	zinc finger and BTB domain containing 39	209					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|prostate(1)	16						ATGGTCTTCTGTCTTTGGCGG	0.572													14	83					0	0	1	0	0	A	57398076	G	A	57398076	3	1	129	1	0	0	0	0	1	0	0	0	17599	1377	48	2	1516	2	ZBTB39	12	57398076	Missense_Mutation	SNP	G	TCGA-DU-8168-01A-11D-2253-08	570387	57398076	76453819	57	21581											
MGAT4C	25834	broad.mit.edu	37	12	86373329	86373329	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr12:86373329A>T	ENST00000604798.1	-	8	2379	c.1175T>A	c.(1174-1176)aTt>aAt	p.I392N	MGAT4C_ENST00000549405.2_Missense_Mutation_p.I392N|MGAT4C_ENST00000393205.2_Missense_Mutation_p.I421N|MGAT4C_ENST00000548651.1_Missense_Mutation_p.I392N|MGAT4C_ENST00000332156.1_Missense_Mutation_p.I392N|MGAT4C_ENST00000552808.2_Missense_Mutation_p.I392N			Q9UBM8	MGT4C_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative)	392					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						ATTTACtttaattttttttat	0.353													6	24					0	0	1	0	0	T	86373329	A	T	86373329	3	4	129	1	0	0	0	0	1	0	0	0	9597	101	4	4	265	4	MGAT4C	12	86373329	Missense_Mutation	SNP	A	TCGA-DU-8168-01A-11D-2253-08	28975253	86373329	47478566	58	21582											
TMEM132D	121256	broad.mit.edu	37	12	130185196	130185196	+	Silent	SNP	G	G	A			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr12:130185196G>A	ENST00000422113.2	-	2	453	c.127C>T	c.(127-129)Ctg>Ttg	p.L43L		NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	43						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		TAGGTGGGCAGCAAGGAAAAC	0.557													3	66					0	0	1	0	0	A	130185196	G	A	130185196	2	1	129	1	0	0	0	0	0	0	0	1	16107	962	34	2		2	TMEM132D	12	130185196	Silent	SNP	G	TCGA-DU-8168-01A-11D-2253-08	43811867	130185196	3666699	59	21583											
UGGT2	55757	broad.mit.edu	37	13	96675958	96675958	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr13:96675958G>T	ENST00000376747.3	-	3	367	c.297C>A	c.(295-297)gaC>gaA	p.D99E	UGGT2_ENST00000397618.3_Missense_Mutation_p.D99E|UGGT2_ENST00000376714.3_Missense_Mutation_p.D99E|UGGT2_ENST00000376712.4_Missense_Mutation_p.D99E	NM_020121.3	NP_064506.3	Q9NYU1	UGGG2_HUMAN	UDP-glucose glycoprotein glucosyltransferase 2	99					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2)	60						TGTGTAAATTGTCTAGAAACT	0.318													3	67					0.004672	0.00480178	1	1	0	T	96675958	G	T	96675958	3	4	129	1	0	0	0	0	1	0	0	0	17002	1368	48	5	4401	5	UGGT2	13	96675958	Missense_Mutation	SNP	G	TCGA-DU-8168-01A-11D-2253-08		96675958	18493920	60	21584											
SERPINA12	145264	broad.mit.edu	37	14	94964687	94964687	+	Silent	SNP	C	C	A	rs144330691		TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr14:94964687C>A	ENST00000341228.2	-	3	843	c.48G>T	c.(46-48)acG>acT	p.T16T	SERPINA12_ENST00000556881.1_Silent_p.T16T	NM_173850.2	NP_776249.1	Q8IW75	SPA12_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12	16					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33				COAD - Colon adenocarcinoma(157;0.235)		GACCTTTCACCGTGAGGAGAA	0.468													3	83					0.115264	0.116843	1	1	0	A	94964687	C	A	94964687	2	1	129	1	0	0	0	0	0	0	0	1	14143	639	23	5		5	SERPINA12	14	94964687	Silent	SNP	C	TCGA-DU-8168-01A-11D-2253-08		94964687	12384853	61	21585											
ARHGAP11A	9824	broad.mit.edu	37	15	32929682	32929682	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr15:32929682A>G	ENST00000361627.3	+	12	3430	c.2708A>G	c.(2707-2709)cAg>cGg	p.Q903R	ARHGAP11A_ENST00000543522.1_Missense_Mutation_p.Q714R|ARHGAP11A_ENST00000565905.1_Missense_Mutation_p.Q714R	NM_014783.3	NP_055598.1	Q6P4F7	RHGBA_HUMAN	Rho GTPase activating protein 11A	903					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		all_lung(180;1.3e-11)		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)		CCTAAAGAACAGAAGTCCATG	0.398													39	49					0	0	1	0	0	G	32929682	A	G	32929682	3	3	129	1	0	0	0	0	1	0	0	0	860	188	7	3	2777	3	ARHGAP11A	15	32929682	Missense_Mutation	SNP	A	TCGA-DU-8168-01A-11D-2253-08		32929682	69601710	62	21586											
CLPX	10845	broad.mit.edu	37	15	65443196	65443198	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr15:65443196_65443198delCTT	ENST00000300107.3	-	14	2053_2055	c.1865_1867delAAG	c.(1864-1869)gaagga>gga	p.E622del		NM_006660.3	NP_006651.2	O76031	CLPX_HUMAN	caseinolytic mitochondrial matrix peptidase chaperone subunit	622					protein folding|proteolysis involved in cellular protein catabolic process	mitochondrial endopeptidase Clp complex|mitochondrial inner membrane|mitochondrial nucleoid	ATP binding|ATPase activity|metal ion binding|peptidase activator activity|unfolded protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1)|skin(2)	16						CGGGGCCATCCTTCTTCTTCAAC	0.384													96	166	---	---	---	---						-	65443198	CTT	-	65443196	7	5	129	1	0	1	0	1	0	0	0	0	3579	690	24	0	38	0	CLPX	15	65443196	In_Frame_Del	DEL	CTT	TCGA-DU-8168-01A-11D-2253-08	32513514	65443196	37088196	63	21587											
AKAP13	11214	broad.mit.edu	37	15	86262400	86262400	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr15:86262400A>C	ENST00000394518.2	+	23	6190	c.6095A>C	c.(6094-6096)cAg>cCg	p.Q2032P	AKAP13_ENST00000394510.2_Missense_Mutation_p.Q277P|AKAP13_ENST00000560579.1_3'UTR|AKAP13_ENST00000361243.2_Missense_Mutation_p.Q2036P	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	2032	DH.|Interaction with ESR1.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						CTTTTTGAGCAGCAGATGGTA	0.483													22	33					0	0	1	0	0	C	86262400	A	C	86262400	3	2	129	1	0	0	0	0	1	0	0	0	446	188	7	5	6251	5	AKAP13	15	86262400	Missense_Mutation	SNP	A	TCGA-DU-8168-01A-11D-2253-08	20819204	86262400	16268992	64	21588											
RPUSD1	113000	broad.mit.edu	37	16	837405	837405	+	Silent	SNP	G	G	A			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr16:837405G>A	ENST00000561734.1	-	2	498	c.255C>T	c.(253-255)agC>agT	p.S85S	RPUSD1_ENST00000565809.1_Silent_p.S85S|RPUSD1_ENST00000567114.1_5'UTR|RPUSD1_ENST00000007264.2_Silent_p.S85S			Q9UJJ7	RUSD1_HUMAN	RNA pseudouridylate synthase domain containing 1	85					pseudouridine synthesis		pseudouridine synthase activity|RNA binding			endometrium(3)|lung(2)|skin(2)	7		Hepatocellular(780;0.00335)				ACCTGTACGCGCTGCCGGCGG	0.632													2	3					0	0	1	0	0	A	837405	G	A	837405	2	1	129	1	0	0	0	0	0	0	0	1	13718	1078	38	1		1	RPUSD1	16	837405	Silent	SNP	G	TCGA-DU-8168-01A-11D-2253-08		837405	89517348	65	21589											
MAPK8IP3	23162	broad.mit.edu	37	16	1797211	1797211	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr16:1797211G>T	ENST00000250894.4	+	6	1083	c.926G>T	c.(925-927)cGg>cTg	p.R309L	MAPK8IP3_ENST00000356010.5_Missense_Mutation_p.R309L|MAPK8IP3_ENST00000568271.1_3'UTR	NM_015133.3	NP_055948.2	Q9UPT6	JIP3_HUMAN	mitogen-activated protein kinase 8 interacting protein 3	309					vesicle-mediated transport	Golgi membrane	kinesin binding|MAP-kinase scaffold activity|protein kinase binding			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	42						AAGCGTGCCCGGGAGAAGCGC	0.662													24	39					1.42536e-11	1.55112e-11	1	1	0	T	1797211	G	T	1797211	3	4	129	1	0	0	0	0	1	0	0	0	9336	1116	39	5	948	5	MAPK8IP3	16	1797211	Missense_Mutation	SNP	G	TCGA-DU-8168-01A-11D-2253-08	959806	1797211	88557542	66	21590											
C16orf86	388284	broad.mit.edu	37	16	67701892	67701892	+	Silent	SNP	A	A	G			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr16:67701892A>G	ENST00000403458.4	+	3	599	c.444A>G	c.(442-444)ccA>ccG	p.P148P	C16orf86_ENST00000602974.1_3'UTR	NM_001012984.2	NP_001013002.2	Q6ZW13	CP086_HUMAN	chromosome 16 open reading frame 86	148										endometrium(2)|lung(4)	6		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)		AGCCCTCACCATCTGCCAAAC	0.607											OREG0023886	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	29					0	0	1	0	0	G	67701892	A	G	67701892	2	3	129	1	0	0	0	0	0	0	0	1	1846	204	8	3		3	C16orf86	16	67701892	Silent	SNP	A	TCGA-DU-8168-01A-11D-2253-08	65904681	67701892	22652861	67	21591											
DPEP2	64174	broad.mit.edu	37	16	68026419	68026419	+	Silent	SNP	G	G	A	rs151283462		TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr16:68026419G>A	ENST00000412757.2	-	4	1049	c.384C>T	c.(382-384)ggC>ggT	p.G128G	DPEP2_ENST00000572888.1_Silent_p.G128G|DPEP2_ENST00000393847.1_Silent_p.G128G			Q9H4A9	DPEP2_HUMAN	dipeptidase 2	128					hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|proteolysis	anchored to membrane|plasma membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|skin(2)|upper_aerodigestive_tract(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0489)|all cancers(182;0.239)		GTACCTGGGCGCCCACGAGGC	0.567													44	62					0	0	1	0	0	A	68026419	G	A	68026419	2	1	129	1	0	0	0	0	0	0	0	1	4741	1074	38	1		1	DPEP2	16	68026419	Silent	SNP	G	TCGA-DU-8168-01A-11D-2253-08	324527	68026419	22328334	68	21592											
LIG3	3980	broad.mit.edu	37	17	33328319	33328319	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr17:33328319C>T	ENST00000378526.4	+	17	2508	c.2375C>T	c.(2374-2376)tCg>tTg	p.S792L	LIG3_ENST00000262327.5_Missense_Mutation_p.S792L	NM_013975.3	NP_039269.2	P49916	DNLI3_HUMAN	ligase III, DNA, ATP-dependent	792					base-excision repair|cell division|DNA ligation involved in DNA repair|DNA replication|reciprocal meiotic recombination|spermatogenesis	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|protein binding|zinc ion binding			endometrium(4)|large_intestine(8)|lung(9)|ovary(3)|pancreas(2)|prostate(1)|skin(3)|stomach(1)	31		Ovarian(249;0.17)			Bleomycin(DB00290)	TTCTCCAAATCGGAGGCTCAT	0.532								Other BER factors					20	32					0	0	1	0	0	T	33328319	C	T	33328319	3	4	129	1	0	0	0	0	1	0	0	0	8822	893	31	1	2437	1	LIG3	17	33328319	Missense_Mutation	SNP	C	TCGA-DU-8168-01A-11D-2253-08		33328319	47866891	69	21593											
UNC45B	146862	broad.mit.edu	37	17	33495136	33495136	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr17:33495136C>T	ENST00000268876.5	+	10	1305	c.1208C>T	c.(1207-1209)tCa>tTa	p.S403L	UNC45B_ENST00000394570.2_Missense_Mutation_p.S403L|UNC45B_ENST00000433649.1_Missense_Mutation_p.S403L|UNC45B_ENST00000591048.1_Missense_Mutation_p.S403L|UNC45B_ENST00000378449.1_Missense_Mutation_p.S403L	NM_173167.2	NP_775259.1	Q8IWX7	UN45B_HUMAN	unc-45 homolog B (C. elegans)	403					cell differentiation|muscle organ development	cytosol	binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				CAGACAGTGTCAGGGATCCTG	0.547													35	64					0	0	1	0	0	T	33495136	C	T	33495136	3	4	129	1	0	0	0	0	1	0	0	0	17049	838	29	2	1242	2	UNC45B	17	33495136	Missense_Mutation	SNP	C	TCGA-DU-8168-01A-11D-2253-08	166817	33495136	47700074	70	21594											
SEC14L1	6397	broad.mit.edu	37	17	75208130	75208130	+	Silent	SNP	G	G	A			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr17:75208130G>A	ENST00000413679.2	+	15	2013	c.1710G>A	c.(1708-1710)tcG>tcA	p.S570S	SEC14L1_ENST00000392476.2_Silent_p.S570S|SEC14L1_ENST00000430767.4_Silent_p.S570S|SEC14L1_ENST00000436233.4_Silent_p.S570S|SEC14L1_ENST00000443798.4_Silent_p.S570S|SEC14L1_ENST00000591437.1_Silent_p.S536S|SEC14L1_ENST00000585618.1_Silent_p.S570S|SEC14L1_ENST00000431431.2_Silent_p.S536S	NM_001143998.1|NM_001143999.1|NM_003003.3	NP_001137470|NP_001137471|NP_002994	Q92503	S14L1_HUMAN	SEC14-like 1 (S. cerevisiae)	570	GOLD.				transport	Golgi apparatus|integral to membrane	binding			NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(2)	31						CCAAGAGGTCGCCACAACCAC	0.527													125	195					0	0	1	0	0	A	75208130	G	A	75208130	2	1	129	1	0	0	0	0	0	0	0	1	14035	1074	38	1		1	SEC14L1	17	75208130	Silent	SNP	G	TCGA-DU-8168-01A-11D-2253-08	41712994	75208130	5987080	71	21595											
TNRC6C	57690	broad.mit.edu	37	17	76094488	76094488	+	Silent	SNP	G	G	T	rs145461604	by1000genomes	TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr17:76094488G>T	ENST00000335749.4	+	18	5048	c.4479G>T	c.(4477-4479)ctG>ctT	p.L1493L	TNRC6C_ENST00000588061.1_Silent_p.L1457L|TNRC6C_ENST00000588847.1_Silent_p.L1493L|TNRC6C_ENST00000301624.4_Silent_p.L1457L|TNRC6C_ENST00000544502.1_Silent_p.L1493L|TNRC6C_ENST00000541771.1_Silent_p.L1457L	NM_001142640.1	NP_001136112.1	Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C	1457	Sufficient for translational repression when tethered to a target mRNA.				gene silencing by RNA|regulation of translation		nucleotide binding|RNA binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			AAGCCTCTCTGTCTCATGAAC	0.557													17	17					8.34094e-07	8.81756e-07	1	1	0	T	76094488	G	T	76094488	2	4	129	1	0	0	0	0	0	0	0	1	16402	1364	48	5		5	TNRC6C	17	76094488	Silent	SNP	G	TCGA-DU-8168-01A-11D-2253-08	886358	76094488	5100722	72	21596											
DSG1	1828	broad.mit.edu	37	18	28934739	28934739	+	Silent	SNP	A	A	G			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr18:28934739A>G	ENST00000257192.4	+	15	2792	c.2580A>G	c.(2578-2580)tcA>tcG	p.S860S	RP11-534N16.1_ENST00000581452.1_RNA|RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000578477.1_RNA|DSG1_ENST00000462981.2_Silent_p.S219S	NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	860					calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			GACCAGCATCAAACGTGGTAG	0.512													17	182					0	0	1	0	0	G	28934739	A	G	28934739	2	3	129	1	0	0	0	0	0	0	0	1	4802	117	5	3		3	DSG1	18	28934739	Silent	SNP	A	TCGA-DU-8168-01A-11D-2253-08		28934739	49142509	73	21597											
SERPINB2	5055	broad.mit.edu	37	18	61570518	61570518	+	Silent	SNP	C	C	T			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr18:61570518C>T	ENST00000457692.1	+	9	1560	c.1227C>T	c.(1225-1227)ttC>ttT	p.F409F	SERPINB2_ENST00000299502.4_Silent_p.F409F	NM_001143818.1	NP_001137290.1	P05120	PAI2_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 2	409					anti-apoptosis|blood coagulation|fibrinolysis|regulation of proteolysis	extracellular space|Golgi apparatus|plasma membrane	serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|liver(1)|lung(12)|prostate(2)|skin(2)|stomach(1)	32		Esophageal squamous(42;0.131)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)	TTTTATTTTTCGGCAGATTTT	0.388													34	42					0	0	1	0	0	T	61570518	C	T	61570518	2	4	129	1	0	0	0	0	0	0	0	1	14155	883	31	1		1	SERPINB2	18	61570518	Silent	SNP	C	TCGA-DU-8168-01A-11D-2253-08	32635779	61570518	16506730	74	21598											
KDM4B	23030	broad.mit.edu	37	19	5131427	5131427	+	Silent	SNP	G	G	A			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr19:5131427G>A	ENST00000159111.4	+	12	1874	c.1656G>A	c.(1654-1656)gaG>gaA	p.E552E	KDM4B_ENST00000536461.1_Silent_p.E586E	NM_015015.2	NP_055830	O94953	KDM4B_HUMAN	lysine (K)-specific demethylase 4B	552					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(1)|liver(1)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						AGGCCTTTGAGCACTTTGCCC	0.657													16	39					0	0	1	0	0	A	5131427	G	A	5131427	2	1	129	1	0	0	0	0	0	0	0	1	8173	962	34	2		2	KDM4B	19	5131427	Silent	SNP	G	TCGA-DU-8168-01A-11D-2253-08		5131427	53997556	75	21599											
MUC16	94025	broad.mit.edu	37	19	9058837	9058837	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr19:9058837G>T	ENST00000397910.4	-	3	28812	c.28609C>A	c.(28609-28611)Cca>Aca	p.P9537T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9539	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GAGAAGCCTGGGGAAGAGGAA	0.483													7	57					0.000157383	0.000164033	1	1	0	T	9058837	G	T	9058837	3	4	129	1	0	0	0	0	1	0	0	0	10021	1232	43	5	15242	5	MUC16	19	9058837	Missense_Mutation	SNP	G	TCGA-DU-8168-01A-11D-2253-08	3927410	9058837	50070146	76	21600											
ZNF442	79973	broad.mit.edu	37	19	12461542	12461542	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr19:12461542G>T	ENST00000242804.4	-	6	1439	c.857C>A	c.(856-858)aCt>aAt	p.T286N	ZNF442_ENST00000438182.1_Missense_Mutation_p.T217N	NM_030824.2	NP_110451.1	Q9H7R0	ZN442_HUMAN	zinc finger protein 442	286					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	31						TCCAGTGTGAGTTCTTTCATG	0.413													10	131					7.03913e-09	7.54921e-09	1	1	0	T	12461542	G	T	12461542	3	4	129	1	0	0	0	0	1	0	0	0	17972	1029	36	4	1030	4	ZNF442	19	12461542	Missense_Mutation	SNP	G	TCGA-DU-8168-01A-11D-2253-08	3402705	12461542	46667441	77	21601											
ZNF208	7757	broad.mit.edu	37	19	22155320	22155320	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr19:22155320C>T	ENST00000397126.4	-	4	2664	c.2516G>A	c.(2515-2517)gGc>gAc	p.G839D	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2			zinc finger protein 208											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				AAAGGCTTTGCCACATTCTTT	0.373													28	21					0	0	1	0	0	T	22155320	C	T	22155320	3	4	129	1	0	0	0	0	1	0	0	0	17824	739	26	2	1330	2	ZNF208	19	22155320	Missense_Mutation	SNP	C	TCGA-DU-8168-01A-11D-2253-08	9693778	22155320	36973663	78	21602											
CIC	23152	broad.mit.edu	37	19	42795593	42795594	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr19:42795593_42795594delTG	ENST00000572681.2	+	11	5468_5469	c.5400_5401delTG	c.(5398-5403)tctgtafs	p.V1801fs	CIC_ENST00000160740.3_Frame_Shift_Del_p.V892fs|CIC_ENST00000575354.2_Frame_Shift_Del_p.V892fs			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	892					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				TCCTGCAGTCTGTACCCTCCGC	0.624			"Mis, F, S"		oligodendroglioma								49	12	---	---	---	---						-	42795594	TG	-	42795593	7	5	129	1	0	1	0	1	0	0	0	0	3446	1567	55	0	2711	0	CIC	19	42795593	Frame_Shift_Del	DEL	TG	TCGA-DU-8168-01A-11D-2253-08	20640273	42795593	16333390	79	21603											
SLC2A10	81031	broad.mit.edu	37	20	45354099	45354099	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr20:45354099G>A	ENST00000359271.2	+	2	674	c.424G>A	c.(424-426)Ggc>Agc	p.G142S		NM_030777.3	NP_110404.1	O95528	GTR10_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 10	142			G -> V (in ATS).			endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity|sugar:hydrogen symporter activity			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	34		Myeloproliferative disorder(115;0.0122)				CTATGAGGCAGGCATCACCGT	0.622													6	143					0	0	1	0	0	A	45354099	G	A	45354099	3	1	129	1	0	0	0	0	1	0	0	0	14594	1000	35	2	430	2	SLC2A10	20	45354099	Missense_Mutation	SNP	G	TCGA-DU-8168-01A-11D-2253-08		45354099	17671421	80	21604											
TAB1	10454	broad.mit.edu	37	22	39824142	39824142	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr22:39824142G>A	ENST00000216160.6	+	10	1323	c.1261G>A	c.(1261-1263)Gct>Act	p.A421T	TAB1_ENST00000331454.3_Missense_Mutation_p.A421T	NM_006116.2	NP_006107.1	Q15750	TAB1_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 1	421					activation of MAPK activity|activation of MAPKKK activity|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane	catalytic activity|protein binding			breast(1)|endometrium(2)|large_intestine(2)|lung(8)|urinary_tract(1)	14						GGTCAACGGGGCTCACAGTGC	0.642													10	95					0	0	1	0	0	A	39824142	G	A	39824142	3	1	129	1	0	0	0	0	1	0	0	0	15552	1203	42	2	1299	2	TAB1	22	39824142	Missense_Mutation	SNP	G	TCGA-DU-8168-01A-11D-2253-08		39824142	11480424	81	21605											
CSF2RA	1438	broad.mit.edu	37	X	1409322	1409322	+	Missense_Mutation	SNP	G	G	A	rs147180621	byFrequency	TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chrX:1409322G>A	ENST00000381524.3	+	7	752	c.566G>A	c.(565-567)cGc>cAc	p.R189H	CSF2RA_ENST00000501036.2_Missense_Mutation_p.R56H|CSF2RA_ENST00000381500.1_Missense_Mutation_p.R189H|CSF2RA_ENST00000355805.2_Missense_Mutation_p.R189H|CSF2RA_ENST00000494969.2_Intron|CSF2RA_ENST00000417535.2_Missense_Mutation_p.R189H|CSF2RA_ENST00000361536.3_Missense_Mutation_p.R189H|CSF2RA_ENST00000381529.3_Missense_Mutation_p.R189H|CSF2RA_ENST00000432318.2_Missense_Mutation_p.R189H|CSF2RA_ENST00000381509.3_Missense_Mutation_p.R189H|CSF2RA_ENST00000355432.3_Missense_Mutation_p.R189H			P15509	CSF2R_HUMAN	colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)	189						extracellular region|integral to plasma membrane	cytokine receptor activity	p.R189H(2)		central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	TTAACGTCTCGCAATTACTTT	0.423													88	178					0	0	1	0	0	A	1409322	G	A	1409322	3	1	129	1	0	0	0	0	1	0	0	0	3959	1087	38	1	584	1	CSF2RA	23	1409322	Missense_Mutation	SNP	G	TCGA-DU-8168-01A-11D-2253-08		1409322	153861238	82	21606											
ATXN3L	92552	broad.mit.edu	37	X	13337542	13337542	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chrX:13337542T>C	ENST00000380622.2	-	1	976	c.512A>G	c.(511-513)gAc>gGc	p.D171G	GS1-600G8.3_ENST00000431486.1_RNA	NM_001135995.1	NP_001129467.1	Q9H3M9	ATX3L_HUMAN	ataxin 3-like	171	Josephin.				protein deubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ubiquitin-specific protease activity			endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						AGCTTCACAGTCTGGCAGATC	0.393													30	49					0	0	1	0	0	C	13337542	T	C	13337542	3	2	129	1	0	0	0	0	1	0	0	0	1212	1667	58	3	559	3	ATXN3L	23	13337542	Missense_Mutation	SNP	T	TCGA-DU-8168-01A-11D-2253-08	11928220	13337542	141933018	83	21607											
CASK	8573	broad.mit.edu	37	X	41393959	41393959	+	Splice_Site	SNP	G	G	T			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chrX:41393959G>T	ENST00000318588.9	-	24	2347	c.2302C>A	c.(2302-2304)Cat>Aat	p.H768N	CASK_ENST00000378158.1_Splice_Site_p.H756N|CASK_ENST00000442742.2_Splice_Site_p.H745N|CASK_ENST00000378163.1_Splice_Site_p.H773N|CASK_ENST00000378166.4_Splice_Site_p.H768N|CASK_ENST00000421587.2_Splice_Site_p.H744N|CASK_ENST00000361962.4_Splice_Site_p.H756N			O14936	CSKP_HUMAN	calcium/calmodulin-dependent serine protein kinase (MAGUK family)	773	Guanylate kinase-like.				cell adhesion	actin cytoskeleton|cytoplasm|nucleus|plasma membrane	ATP binding|calmodulin binding|guanylate kinase activity|protein serine/threonine kinase activity			breast(3)|endometrium(5)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|ovary(3)|prostate(1)|stomach(1)	32						CATTGCTTACGTGGAATAGGG	0.338													40	51					4.44401e-20	5.05934e-20	1	1	0	T	41393959	G	T	41393959	5	4	129	1	0	0	0	0	0	0	1	0	2683	1159	40	5	479	5	CASK	23	41393959	Splice_Site	SNP	G	TCGA-DU-8168-01A-11D-2253-08	28056417	41393959	113876601	84	21608											
CCNB3	85417	broad.mit.edu	37	X	50051784	50051784	+	Silent	SNP	G	G	A			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chrX:50051784G>A	ENST00000376042.1	+	6	913	c.615G>A	c.(613-615)gcG>gcA	p.A205A	CCNB3_ENST00000276014.7_Silent_p.A205A|CCNB3_ENST00000376038.1_Intron|CCNB3_ENST00000348603.2_Intron			Q8WWL7	CCNB3_HUMAN	cyclin B3	205					cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding			breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					GTGATGATGCGTTTGTTATAG	0.408													30	44					0	0	1	0	0	A	50051784	G	A	50051784	2	1	129	1	0	0	0	0	0	0	0	1	2936	1132	40	1		1	CCNB3	23	50051784	Silent	SNP	G	TCGA-DU-8168-01A-11D-2253-08	8657825	50051784	105218776	85	21609											
MAGEE1	57692	broad.mit.edu	37	X	75649858	75649858	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chrX:75649858T>C	ENST00000361470.2	+	1	1813	c.1535T>C	c.(1534-1536)aTc>aCc	p.I512T		NM_020932.2	NP_065983.1	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	512	MAGE 1.					dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						AAGTACCCTATCCGGGAGTCT	0.502													29	62					0	0	1	0	0	C	75649858	T	C	75649858	3	2	129	1	0	0	0	0	1	0	0	0	9235	1435	50	3	1537	3	MAGEE1	23	75649858	Missense_Mutation	SNP	T	TCGA-DU-8168-01A-11D-2253-08	25598074	75649858	79620702	86	21610											
ZCCHC12	170261	broad.mit.edu	37	X	117959418	117959418	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chrX:117959418G>A	ENST00000310164.2	+	4	718	c.211G>A	c.(211-213)Gtc>Atc	p.V71I		NM_173798.2	NP_776159.1	Q6PEW1	ZCH12_HUMAN	zinc finger, CCHC domain containing 12	71					regulation of transcription, DNA-dependent|transcription, DNA-dependent		nucleic acid binding|zinc ion binding	p.V71I(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	22						agtcaatggcgtcctgccaga	0.557													56	32					0	0	1	0	0	A	117959418	G	A	117959418	3	1	129	1	0	0	0	0	1	0	0	0	17640	1145	40	1	213	1	ZCCHC12	23	117959418	Missense_Mutation	SNP	G	TCGA-DU-8168-01A-11D-2253-08	42309560	117959418	37311142	87	21611											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-DU-A5TP-01A-11D-A289-08	TCGA-DU-A5TP-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d307950-3327-4ac5-95e4-5941a28fb077	dba5aeaa-a6d1-4f01-a963-e6d523f8783d	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								18	40					0	0	1	0	0	T	209113112	C	T	209113112	3	4	130	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-DU-A5TP-01A-11D-A289-08		209113112	34086261	1	21612											
OXSM	54995	broad.mit.edu	37	3	25833094	25833094	+	Nonsense_Mutation	SNP	C	C	T	rs147184138		TCGA-DU-A5TP-01A-11D-A289-08	TCGA-DU-A5TP-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d307950-3327-4ac5-95e4-5941a28fb077	dba5aeaa-a6d1-4f01-a963-e6d523f8783d	g.chr3:25833094C>T	ENST00000280701.3	+	2	682	c.583C>T	c.(583-585)Cga>Tga	p.R195*	OXSM_ENST00000420173.2_Nonsense_Mutation_p.R195*|OXSM_ENST00000449808.1_Intron	NM_017897.2	NP_060367.1	Q9NWU1	OXSM_HUMAN	3-oxoacyl-ACP synthase, mitochondrial	195					acyl-CoA metabolic process|medium-chain fatty acid biosynthetic process|short-chain fatty acid biosynthetic process	mitochondrion	3-oxoacyl-[acyl-carrier-protein] synthase activity			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	25						GGTCAGCATTCGATATAAACT	0.433													11	68					0	0	1	0	0	T	25833094	C	T	25833094	4	4	130	1	0	0	0	0	0	1	0	0	11382	876	31	1	585	1	OXSM	3	25833094	Nonsense_Mutation	SNP	C	TCGA-DU-A5TP-01A-11D-A289-08		25833094	172189336	2	21613											
DRD5	1816	broad.mit.edu	37	4	9784116	9784116	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A5TP-01A-11D-A289-08	TCGA-DU-A5TP-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d307950-3327-4ac5-95e4-5941a28fb077	dba5aeaa-a6d1-4f01-a963-e6d523f8783d	g.chr4:9784116C>T	ENST00000304374.2	+	1	859	c.463C>T	c.(463-465)Cgc>Tgc	p.R155C		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5	155					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane				NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)	GATGACTCAGCGCATGGCCTT	0.607													5	51					0	0	1	0	0	T	9784116	C	T	9784116	3	4	130	1	0	0	0	0	1	0	0	0	4786	768	27	1	465	1	DRD5	4	9784116	Missense_Mutation	SNP	C	TCGA-DU-A5TP-01A-11D-A289-08		9784116	181370160	3	21614											
FGG	2266	broad.mit.edu	37	4	155530846	155530846	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-A5TP-01A-11D-A289-08	TCGA-DU-A5TP-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d307950-3327-4ac5-95e4-5941a28fb077	dba5aeaa-a6d1-4f01-a963-e6d523f8783d	g.chr4:155530846T>A	ENST00000404648.3	-	6	841	c.602A>T	c.(601-603)aAc>aTc	p.N201I	FGG_ENST00000407946.1_Missense_Mutation_p.N209I|FGG_ENST00000336098.3_Missense_Mutation_p.N201I|FGG_ENST00000405164.1_Missense_Mutation_p.N209I	NM_000509.4	NP_000500.2	P02679	FIBG_HUMAN	fibrinogen gamma chain	201	Fibrinogen C-terminal.				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	GAATTGCTGGTTAGCTTTCAG	0.388													42	50					0	0	1	0	0	A	155530846	T	A	155530846	3	1	130	1	0	0	0	0	1	0	0	0	5903	1725	60	5	794	5	FGG	4	155530846	Missense_Mutation	SNP	T	TCGA-DU-A5TP-01A-11D-A289-08	145746730	155530846	35623430	4	21615											
UGT3A1	133688	broad.mit.edu	37	5	35954579	35954579	+	Splice_Site	SNP	A	A	G			TCGA-DU-A5TP-01A-11D-A289-08	TCGA-DU-A5TP-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d307950-3327-4ac5-95e4-5941a28fb077	dba5aeaa-a6d1-4f01-a963-e6d523f8783d	g.chr5:35954579A>G	ENST00000274278.3	-	7	1654	c.1297T>C	c.(1297-1299)Tac>Cac	p.Y433H		NM_152404.3	NP_689617.3	Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1	433						integral to membrane	glucuronosyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GCCGACTTGTACCTGTTGGCG	0.552													6	45					0	0	1	0	0	G	35954579	A	G	35954579	5	3	130	1	0	0	0	0	0	0	1	0	17023	405	14	3	278	3	UGT3A1	5	35954579	Splice_Site	SNP	A	TCGA-DU-A5TP-01A-11D-A289-08		35954579	144960681	5	21616											
GABRB2	2561	broad.mit.edu	37	5	160758095	160758095	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-A5TP-01A-11D-A289-08	TCGA-DU-A5TP-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d307950-3327-4ac5-95e4-5941a28fb077	dba5aeaa-a6d1-4f01-a963-e6d523f8783d	g.chr5:160758095T>C	ENST00000274547.2	-	9	1089	c.872A>G	c.(871-873)cAc>cGc	p.H291R	GABRB2_ENST00000517901.1_Missense_Mutation_p.H228R|GABRB2_ENST00000517547.1_Missense_Mutation_p.H131R|GABRB2_ENST00000393959.1_Missense_Mutation_p.H291R|GABRB2_ENST00000520240.1_Missense_Mutation_p.H291R|GABRB2_ENST00000353437.6_Missense_Mutation_p.H291R	NM_000813.2|NM_021911.2	NP_000804.1|NP_068711.1	P47870	GBRB2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 2	291					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|GABA-A receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	TTCCCGGAGGTGGGTGTTGAT	0.423													18	112					0	0	1	0	0	C	160758095	T	C	160758095	3	2	130	1	0	0	0	0	1	0	0	0	6202	1696	59	3	678	3	GABRB2	5	160758095	Missense_Mutation	SNP	T	TCGA-DU-A5TP-01A-11D-A289-08	124803516	160758095	20157165	6	21617											
EIF3B	8662	broad.mit.edu	37	7	2394836	2394836	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DU-A5TP-01A-11D-A289-08	TCGA-DU-A5TP-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d307950-3327-4ac5-95e4-5941a28fb077	dba5aeaa-a6d1-4f01-a963-e6d523f8783d	g.chr7:2394836delG	ENST00000360876.4	+	1	336	c.280delG	c.(280-282)gggfs	p.G94fs	EIF3B_ENST00000397011.2_Frame_Shift_Del_p.G94fs	NM_001037283.1	NP_001032360.1	P55884	EIF3B_HUMAN	eukaryotic translation initiation factor 3, subunit B	94					regulation of translational initiation	cytosol|eukaryotic translation initiation factor 3 complex	nucleotide binding|protein complex scaffold|translation initiation factor activity			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	24		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;7.76e-14)		GGAGCTGCCCGGGTCGCATGC	0.786													2	4	---	---	---	---						-	2394836	G	-	2394836	7	5	130	1	0	1	0	1	0	0	0	0	5039	1116	39	0	282	0	EIF3B	7	2394836	Frame_Shift_Del	DEL	G	TCGA-DU-A5TP-01A-11D-A289-08		2394836	156743827	7	21618											
GNAI1	2770	broad.mit.edu	37	7	79818476	79818476	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-A5TP-01A-11D-A289-08	TCGA-DU-A5TP-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d307950-3327-4ac5-95e4-5941a28fb077	dba5aeaa-a6d1-4f01-a963-e6d523f8783d	g.chr7:79818476A>G	ENST00000351004.3	+	3	605	c.232A>G	c.(232-234)Atc>Gtc	p.I78V	GNAI1_ENST00000457358.2_Missense_Mutation_p.I26V|GNAI1_ENST00000490206.1_3'UTR	NM_002069.5	NP_002060.4	P63096	GNAI1_HUMAN	guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 1	78					cell cycle|cell division|inhibition of adenylate cyclase activity by G-protein signaling pathway|platelet activation|synaptic transmission	centrosome|heterotrimeric G-protein complex|midbody|nucleus	G-protein beta/gamma-subunit complex binding|GTP binding|metabotropic serotonin receptor binding|signal transducer activity			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	19						CAGTAACACCATCCAGTCAAT	0.398													6	22					0	0	1	0	0	G	79818476	A	G	79818476	3	3	130	1	0	0	0	0	1	0	0	0	6546	217	8	3	242	3	GNAI1	7	79818476	Missense_Mutation	SNP	A	TCGA-DU-A5TP-01A-11D-A289-08	77423640	79818476	79320187	8	21619											
PON1	5444	broad.mit.edu	37	7	94940783	94940783	+	Silent	SNP	G	G	T			TCGA-DU-A5TP-01A-11D-A289-08	TCGA-DU-A5TP-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d307950-3327-4ac5-95e4-5941a28fb077	dba5aeaa-a6d1-4f01-a963-e6d523f8783d	g.chr7:94940783G>T	ENST00000222381.3	-	5	708	c.477C>A	c.(475-477)atC>atA	p.I159I	PON1_ENST00000542556.1_Silent_p.I159I	NM_000446.5	NP_000437.3	P27169	PON1_HUMAN	paraoxonase 1	159					aromatic compound catabolic process|carboxylic acid catabolic process|organophosphate catabolic process|phosphatidylcholine metabolic process|positive regulation of binding|positive regulation of cholesterol efflux|positive regulation of transporter activity|response to external stimulus	spherical high-density lipoprotein particle	aryldialkylphosphatase activity|arylesterase activity|calcium ion binding|phospholipid binding|protein homodimerization activity			autonomic_ganglia(1)|endometrium(2)|large_intestine(6)|lung(11)|pancreas(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	27	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		STAD - Stomach adenocarcinoma(171;0.0031)		Atorvastatin(DB01076)|Cefazolin(DB01327)	GTTTATGTCTGATGGTTTTTA	0.383													31	51					5.77227e-19	6.51231e-19	1	1	0	T	94940783	G	T	94940783	2	4	130	1	0	0	0	0	0	0	0	1	12296	1280	45	5		5	PON1	7	94940783	Silent	SNP	G	TCGA-DU-A5TP-01A-11D-A289-08	15122307	94940783	64197880	9	21620											
CBLL1	79872	broad.mit.edu	37	7	107398758	107398758	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-A5TP-01A-11D-A289-08	TCGA-DU-A5TP-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d307950-3327-4ac5-95e4-5941a28fb077	dba5aeaa-a6d1-4f01-a963-e6d523f8783d	g.chr7:107398758A>G	ENST00000440859.3	+	6	1078	c.611A>G	c.(610-612)aAt>aGt	p.N204S	CBLL1_ENST00000415884.2_3'UTR|CBLL1_ENST00000222597.2_Missense_Mutation_p.N203S	NM_001284291.1|NM_024814.2	NP_001271220.1|NP_079090.2	Q75N03	HAKAI_HUMAN	Cbl proto-oncogene-like 1, E3 ubiquitin protein ligase						cell-cell adhesion|negative regulation of cell adhesion|positive regulation of cell migration|positive regulation of endocytosis		protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(3)	21						TCACTTGAAAATGTTCATCCT	0.468													85	118					0	0	1	0	0	G	107398758	A	G	107398758	3	3	130	1	0	0	0	0	1	0	0	0	2721	101	4	3	633	3	CBLL1	7	107398758	Missense_Mutation	SNP	A	TCGA-DU-A5TP-01A-11D-A289-08	12457975	107398758	51739905	10	21621											
PLXNA4	91584	broad.mit.edu	37	7	131848943	131848943	+	Silent	SNP	G	G	A			TCGA-DU-A5TP-01A-11D-A289-08	TCGA-DU-A5TP-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d307950-3327-4ac5-95e4-5941a28fb077	dba5aeaa-a6d1-4f01-a963-e6d523f8783d	g.chr7:131848943G>A	ENST00000359827.3	-	24	5420	c.4458C>T	c.(4456-4458)agC>agT	p.S1486S	PLXNA4_ENST00000321063.4_Silent_p.S1486S			Q9HCM2	PLXA4_HUMAN	plexin A4	1486						integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						GCTTGTCCTCGCTCAAGGAGT	0.607													10	62					0	0	1	0	0	A	131848943	G	A	131848943	2	1	130	1	0	0	0	0	0	0	0	1	12170	1078	38	1		1	PLXNA4	7	131848943	Silent	SNP	G	TCGA-DU-A5TP-01A-11D-A289-08	24450185	131848943	27289720	11	21622											
CNOT4	4850	broad.mit.edu	37	7	135048807	135048807	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-A5TP-01A-11D-A289-08	TCGA-DU-A5TP-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d307950-3327-4ac5-95e4-5941a28fb077	dba5aeaa-a6d1-4f01-a963-e6d523f8783d	g.chr7:135048807A>G	ENST00000541284.1	-	11	1969	c.1639T>C	c.(1639-1641)Tct>Cct	p.S547P	CNOT4_ENST00000361528.4_Intron|CNOT4_ENST00000473470.1_5'UTR|CNOT4_ENST00000423368.2_Intron|CNOT4_ENST00000451834.1_Missense_Mutation_p.S544P	NM_001190849.1|NM_001190850.1	NP_001177778.1|NP_001177779.1	O95628	CNOT4_HUMAN	CCR4-NOT transcription complex, subunit 4	227					nuclear-transcribed mRNA poly(A) tail shortening|protein autoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	nucleotide binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	22						CTCTCTACAGAACTGCTGTTG	0.388													44	108					0	0	1	0	0	G	135048807	A	G	135048807	3	3	130	1	0	0	0	0	1	0	0	0	3644	261	9	3		3	CNOT4	7	135048807	Missense_Mutation	SNP	A	TCGA-DU-A5TP-01A-11D-A289-08	3199864	135048807	24089856	12	21623											
TAS2R41	259287	broad.mit.edu	37	7	143175080	143175080	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-A5TP-01A-11D-A289-08	TCGA-DU-A5TP-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d307950-3327-4ac5-95e4-5941a28fb077	dba5aeaa-a6d1-4f01-a963-e6d523f8783d	g.chr7:143175080G>T	ENST00000408916.1	+	1	115	c.115G>T	c.(115-117)Ggc>Tgc	p.G39C	EPHA1-AS1_ENST00000429289.1_RNA	NM_176883.2	NP_795364.2	P59536	T2R41_HUMAN	taste receptor, type 2, member 41	39					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			endometrium(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(2)|skin(1)	18	Melanoma(164;0.15)					GCTGCGATATGGCAGGTTGCT	0.562													7	119					0.00198382	0.00207829	1	1	0	T	143175080	G	T	143175080	3	4	130	1	0	0	0	0	1	0	0	0	15636	1348	47	5	117	5	TAS2R41	7	143175080	Missense_Mutation	SNP	G	TCGA-DU-A5TP-01A-11D-A289-08	8126273	143175080	15963583	13	21624											
TAF2	6873	broad.mit.edu	37	8	120768315	120768315	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-A5TP-01A-11D-A289-08	TCGA-DU-A5TP-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d307950-3327-4ac5-95e4-5941a28fb077	dba5aeaa-a6d1-4f01-a963-e6d523f8783d	g.chr8:120768315T>G	ENST00000378164.2	-	22	3107	c.2809A>C	c.(2809-2811)Act>Cct	p.T937P	TAF2_ENST00000519355.1_5'UTR	NM_003184.3	NP_003175	Q6P1X5	TAF2_HUMAN	TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa	937					G2/M transition of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor TFIID complex|transcription factor TFTC complex	metallopeptidase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(2)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(21)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	49	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			ATGTTCTTAGTAAATGGTGGG	0.348													6	57					0	0	1	0	0	G	120768315	T	G	120768315	3	3	130	1	0	0	0	0	1	0	0	0	15581	1638	57	5	810	5	TAF2	8	120768315	Missense_Mutation	SNP	T	TCGA-DU-A5TP-01A-11D-A289-08		120768315	25595707	14	21625											
TNC	3371	broad.mit.edu	37	9	117826102	117826102	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-A5TP-01A-11D-A289-08	TCGA-DU-A5TP-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d307950-3327-4ac5-95e4-5941a28fb077	dba5aeaa-a6d1-4f01-a963-e6d523f8783d	g.chr9:117826102T>A	ENST00000350763.4	-	12	4144	c.3733A>T	c.(3733-3735)Acc>Tcc	p.T1245S	TNC_ENST00000535648.1_Intron|TNC_ENST00000340094.3_Intron|TNC_ENST00000537320.1_Intron|TNC_ENST00000341037.4_Missense_Mutation_p.T1245S|TNC_ENST00000346706.3_Intron|TNC_ENST00000345230.3_Intron|TNC_ENST00000542877.1_Intron|TNC_ENST00000423613.2_Missense_Mutation_p.T1245S	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	1245	Fibronectin type-III 7.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						GAGAGAGGGGTTGTGCTGAAG	0.522													20	98					0	0	1	0	0	A	117826102	T	A	117826102	3	1	130	1	0	0	0	0	1	0	0	0	16330	1725	60	5	2940	5	TNC	9	117826102	Missense_Mutation	SNP	T	TCGA-DU-A5TP-01A-11D-A289-08		117826102	23387329	15	21626											
MPP7	143098	broad.mit.edu	37	10	28378749	28378749	+	Missense_Mutation	SNP	C	C	T	rs145943944	byFrequency	TCGA-DU-A5TP-01A-11D-A289-08	TCGA-DU-A5TP-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d307950-3327-4ac5-95e4-5941a28fb077	dba5aeaa-a6d1-4f01-a963-e6d523f8783d	g.chr10:28378749C>T	ENST00000337532.5	-	13	1250	c.974G>A	c.(973-975)cGt>cAt	p.R325H	MPP7_ENST00000445954.2_Missense_Mutation_p.R200H|MPP7_ENST00000375719.3_Missense_Mutation_p.R325H|MPP7_ENST00000375732.1_Missense_Mutation_p.R325H|MPP7_ENST00000540098.1_Missense_Mutation_p.R325H	NM_173496.3	NP_775767.2	Q5T2T1	MPP7_HUMAN	membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7)	325					establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly	MPP7-DLG1-LIN7 complex|tight junction	protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	22						TCTACTAAGACGAAAACTTTT	0.313													10	37					0	0	1	0	0	T	28378749	C	T	28378749	3	4	130	1	0	0	0	0	1	0	0	0	9788	536	19	1	780	1	MPP7	10	28378749	Missense_Mutation	SNP	C	TCGA-DU-A5TP-01A-11D-A289-08		28378749	107155998	16	21627											
PA2G4	5036	broad.mit.edu	37	12	56504345	56504345	+	Silent	SNP	C	C	T			TCGA-DU-A5TP-01A-11D-A289-08	TCGA-DU-A5TP-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d307950-3327-4ac5-95e4-5941a28fb077	dba5aeaa-a6d1-4f01-a963-e6d523f8783d	g.chr12:56504345C>T	ENST00000303305.6	+	9	1130	c.711C>T	c.(709-711)gcC>gcT	p.A237A	RP11-603J24.17_ENST00000548595.1_RNA|PA2G4_ENST00000552766.1_Silent_p.A237A	NM_006191.2	NP_006182.2	Q9UQ80	PA2G4_HUMAN	proliferation-associated 2G4, 38kDa	237					cell cycle arrest|cell proliferation|negative regulation of transcription, DNA-dependent|regulation of translation|rRNA processing	cytoplasm|nucleolus|ribonucleoprotein complex	DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|ubiquitin protein ligase binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(18;0.0739)			TCTTTCAGGCCAAGGATGCAG	0.463													32	41					0	0	1	0	0	T	56504345	C	T	56504345	2	4	130	1	0	0	0	0	0	0	0	1	11408	581	21	2		2	PA2G4	12	56504345	Silent	SNP	C	TCGA-DU-A5TP-01A-11D-A289-08		56504345	77347550	17	21628											
BTBD11	121551	broad.mit.edu	37	12	108012060	108012060	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A5TP-01A-11D-A289-08	TCGA-DU-A5TP-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d307950-3327-4ac5-95e4-5941a28fb077	dba5aeaa-a6d1-4f01-a963-e6d523f8783d	g.chr12:108012060G>A	ENST00000280758.5	+	10	2885	c.2357G>A	c.(2356-2358)cGc>cAc	p.R786H	BTBD11_ENST00000420571.2_Intron|BTBD11_ENST00000490090.2_Missense_Mutation_p.R786H|BTBD11_ENST00000357167.4_Missense_Mutation_p.R323H	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11	786						integral to membrane	DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						TGCGCCAGCCGCAACAGCAAG	0.597													24	60					0	0	1	0	0	A	108012060	G	A	108012060	3	1	130	1	0	0	0	0	1	0	0	0	1541	1087	38	1	2500	1	BTBD11	12	108012060	Missense_Mutation	SNP	G	TCGA-DU-A5TP-01A-11D-A289-08	51507715	108012060	25839835	18	21629											
MDGA2	161357	broad.mit.edu	37	14	47389358	47389358	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-A5TP-01A-11D-A289-08	TCGA-DU-A5TP-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d307950-3327-4ac5-95e4-5941a28fb077	dba5aeaa-a6d1-4f01-a963-e6d523f8783d	g.chr14:47389358C>A	ENST00000426342.1	-	10	1947	c.1201G>T	c.(1201-1203)Gcc>Tcc	p.A401S	MDGA2_ENST00000439988.3_Missense_Mutation_p.A699S|MDGA2_ENST00000399232.2_Missense_Mutation_p.A630S|MDGA2_ENST00000357362.3_Missense_Mutation_p.A401S	NM_182830.3	NP_878250.2	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	630	Ig-like 4.				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						GGAGCATAGGCCTTTCCTGAA	0.368													7	52					8.12818e-05	8.72293e-05	1	1	0	A	47389358	C	A	47389358	3	1	130	1	0	0	0	0	1	0	0	0	9457	739	26	5	1014	5	MDGA2	14	47389358	Missense_Mutation	SNP	C	TCGA-DU-A5TP-01A-11D-A289-08		47389358	59960182	19	21630											
EVL	51466	broad.mit.edu	37	14	100551166	100551166	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A5TP-01A-11D-A289-08	TCGA-DU-A5TP-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d307950-3327-4ac5-95e4-5941a28fb077	dba5aeaa-a6d1-4f01-a963-e6d523f8783d	g.chr14:100551166G>A	ENST00000544450.2	+	2	449	c.166G>A	c.(166-168)Gtt>Att	p.V56I	EVL_ENST00000555048.1_3'UTR|EVL_ENST00000392920.3_Missense_Mutation_p.V52I|EVL_ENST00000402714.2_Missense_Mutation_p.V50I			Q9UI08	EVL_HUMAN	Enah/Vasp-like	50	WH1.				actin polymerization or depolymerization|axon guidance|cell surface receptor linked signaling pathway|organ morphogenesis	cytoskeleton|cytosol|focal adhesion|lamellipodium	actin binding|profilin binding|SH3 domain binding			cervix(1)|large_intestine(5)|lung(3)|ovary(3)|urinary_tract(2)	14		Melanoma(154;0.152)				CTTCAGAGTCGTTGGAGTCAA	0.532													42	45					0	0	1	0	0	A	100551166	G	A	100551166	3	1	130	1	0	0	0	0	1	0	0	0	5319	1145	40	1	160	1	EVL	14	100551166	Missense_Mutation	SNP	G	TCGA-DU-A5TP-01A-11D-A289-08	53161808	100551166	6798374	20	21631											
OCA2	4948	broad.mit.edu	37	15	28273113	28273113	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-A5TP-01A-11D-A289-08	TCGA-DU-A5TP-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d307950-3327-4ac5-95e4-5941a28fb077	dba5aeaa-a6d1-4f01-a963-e6d523f8783d	g.chr15:28273113A>T	ENST00000354638.3	-	4	574	c.419T>A	c.(418-420)cTa>cAa	p.L140Q	OCA2_ENST00000353809.5_Missense_Mutation_p.L140Q|OCA2_ENST00000382996.2_Missense_Mutation_p.L140Q	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II	140					eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		CTCCCTGCTTAGCAGGTATCT	0.552									Oculocutaneous Albinism				13	142					0	0	1	0	0	T	28273113	A	T	28273113	3	4	130	1	0	0	0	0	1	0	0	0	10863	420	15	5	2181	5	OCA2	15	28273113	Missense_Mutation	SNP	A	TCGA-DU-A5TP-01A-11D-A289-08		28273113	74258279	21	21632											
HERC2	8924	broad.mit.edu	37	15	28473408	28473408	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-A5TP-01A-11D-A289-08	TCGA-DU-A5TP-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d307950-3327-4ac5-95e4-5941a28fb077	dba5aeaa-a6d1-4f01-a963-e6d523f8783d	g.chr15:28473408T>C	ENST00000261609.7	-	35	5528	c.5420A>G	c.(5419-5421)aAt>aGt	p.N1807S		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	1807					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CATGCCGGAATTGAGCAGAAG	0.592													6	62					0	0	1	0	0	C	28473408	T	C	28473408	3	2	130	1	0	0	0	0	1	0	0	0	7099	1493	52	3	9320	3	HERC2	15	28473408	Missense_Mutation	SNP	T	TCGA-DU-A5TP-01A-11D-A289-08	200295	28473408	74057984	22	21633											
FES	2242	broad.mit.edu	37	15	91437242	91437242	+	Silent	SNP	C	C	T			TCGA-DU-A5TP-01A-11D-A289-08	TCGA-DU-A5TP-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d307950-3327-4ac5-95e4-5941a28fb077	dba5aeaa-a6d1-4f01-a963-e6d523f8783d	g.chr15:91437242C>T	ENST00000328850.3	+	18	2422	c.2280C>T	c.(2278-2280)ccC>ccT	p.P760P	FES_ENST00000414248.2_Silent_p.P632P|FES_ENST00000394300.3_Silent_p.P702P|FES_ENST00000444422.2_Silent_p.P690P|FES_ENST00000394302.1_Silent_p.P619P|FES_ENST00000450438.2_Silent_p.P632P	NM_002005.3	NP_001996.1	P07332	FES_HUMAN	feline sarcoma oncogene	760	Protein kinase.				axon guidance|cell proliferation|peptidyl-tyrosine phosphorylation	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			lung(2)|ovary(1)	3	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			GGGCCTCCCCCTATCCCAACC	0.607													175	285					0	0	1	0	0	T	91437242	C	T	91437242	2	4	130	1	0	0	0	0	0	0	0	1	5853	668	24	2		2	FES	15	91437242	Silent	SNP	C	TCGA-DU-A5TP-01A-11D-A289-08	62963834	91437242	11094150	23	21634											
ATF7IP2	80063	broad.mit.edu	37	16	10551310	10551310	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-A5TP-01A-11D-A289-08	TCGA-DU-A5TP-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d307950-3327-4ac5-95e4-5941a28fb077	dba5aeaa-a6d1-4f01-a963-e6d523f8783d	g.chr16:10551310G>T	ENST00000396560.2	+	7	1503	c.1276G>T	c.(1276-1278)Gag>Tag	p.E426*	ATF7IP2_ENST00000396559.1_Nonsense_Mutation_p.E426*|ATF7IP2_ENST00000324570.5_Nonsense_Mutation_p.E426*|ATF7IP2_ENST00000356427.2_Nonsense_Mutation_p.E426*|ATF7IP2_ENST00000543967.1_Intron	NM_024997.3	NP_079273.2	Q5U623	MCAF2_HUMAN	activating transcription factor 7 interacting protein 2	426					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				large_intestine(3)	3						TGTGAATTATGAGCCTTCTAA	0.323													12	106					2.80697e-09	3.08767e-09	1	1	0	T	10551310	G	T	10551310	4	4	130	1	0	0	0	0	0	1	0	0	1087	1291	45	5	1294	5	ATF7IP2	16	10551310	Nonsense_Mutation	SNP	G	TCGA-DU-A5TP-01A-11D-A289-08		10551310	79803443	24	21635											
ITGAE	3682	broad.mit.edu	37	17	3656701	3656701	+	Silent	SNP	C	C	T			TCGA-DU-A5TP-01A-11D-A289-08	TCGA-DU-A5TP-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d307950-3327-4ac5-95e4-5941a28fb077	dba5aeaa-a6d1-4f01-a963-e6d523f8783d	g.chr17:3656701C>T	ENST00000263087.4	-	14	1649	c.1551G>A	c.(1549-1551)gaG>gaA	p.E517E		NM_002208.4	NP_002199.3	P38570	ITAE_HUMAN	integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide)	517					cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		CAGGGCACAGCTCAGAGCCAA	0.582													11	75					0	0	1	0	0	T	3656701	C	T	3656701	2	4	130	1	0	0	0	0	0	0	0	1	7929	796	28	2		2	ITGAE	17	3656701	Silent	SNP	C	TCGA-DU-A5TP-01A-11D-A289-08		3656701	77538509	25	21636											
TP53	7157	broad.mit.edu	37	17	7577094	7577094	+	Missense_Mutation	SNP	G	G	A	rs28934574		TCGA-DU-A5TP-01A-11D-A289-08	TCGA-DU-A5TP-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d307950-3327-4ac5-95e4-5941a28fb077	dba5aeaa-a6d1-4f01-a963-e6d523f8783d	g.chr17:7577094G>A	ENST00000420246.2	-	8	976	c.844C>T	c.(844-846)Cgg>Tgg	p.R282W	TP53_ENST00000445888.2_Missense_Mutation_p.R282W|TP53_ENST00000455263.2_Missense_Mutation_p.R282W|TP53_ENST00000359597.4_Missense_Mutation_p.R282W|TP53_ENST00000413465.2_Intron|TP53_ENST00000269305.4_Missense_Mutation_p.R282W	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	282	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		DR -> EW (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934574).		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.R282W(401)|p.R282G(29)|p.0?(8)|p.R282fs*24(4)|p.R282R(3)|p.?(2)|p.D281fs*63(2)|p.D281_R282>EW(2)|p.A276_R283delACPGRDRR(1)|p.D281_R282insXX(1)|p.C275fs*20(1)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.D281_R282delDR(1)|p.G279fs*59(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.R282fs*63(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(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)		TCTGTGCGCCGGTCTCTCCCA	0.557		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)			36	6					0	0	1	0	0	A	7577094	G	A	7577094	3	1	130	1	0	0	0	0	1	0	0	0	16442	1115	39	1	442	1	TP53	17	7577094	Missense_Mutation	SNP	G	TCGA-DU-A5TP-01A-11D-A289-08	3920393	7577094	73618116	26	21637											
MYO9B	4650	broad.mit.edu	37	19	17313045	17313045	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-A5TP-01A-11D-A289-08	TCGA-DU-A5TP-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d307950-3327-4ac5-95e4-5941a28fb077	dba5aeaa-a6d1-4f01-a963-e6d523f8783d	g.chr19:17313045A>C	ENST00000595618.1	+	28	4921	c.4769A>C	c.(4768-4770)aAc>aCc	p.N1590T	MYO9B_ENST00000594824.1_Missense_Mutation_p.N1590T|MYO9B_ENST00000397274.2_Missense_Mutation_p.N1590T	NM_001130065.1|NM_004145.3	NP_001123537.1|NP_004136.2	Q13459	MYO9B_HUMAN	myosin IXB	1590	Tail.				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						CTGGTCCTCAACCTCTTCCAG	0.572													3	22					0	0	1	0	0	C	17313045	A	C	17313045	3	2	130	1	0	0	0	0	1	0	0	0	10133	43	2	5	4875	5	MYO9B	19	17313045	Missense_Mutation	SNP	A	TCGA-DU-A5TP-01A-11D-A289-08		17313045	41815938	27	21638											
MRPS26	64949	broad.mit.edu	37	20	3027057	3027057	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-A5TP-01A-11D-A289-08	TCGA-DU-A5TP-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d307950-3327-4ac5-95e4-5941a28fb077	dba5aeaa-a6d1-4f01-a963-e6d523f8783d	g.chr20:3027057A>G	ENST00000380325.3	+	2	375	c.251A>G	c.(250-252)gAg>gGg	p.E84G		NM_030811.3	NP_110438.1	Q9BYN8	RT26_HUMAN	mitochondrial ribosomal protein S26	84					DNA damage response, detection of DNA damage	mitochondrial small ribosomal subunit				kidney(1)|lung(1)	2						AAGGTGCACGAGGCCCGAGCC	0.701													11	26					0	0	1	0	0	G	3027057	A	G	3027057	3	3	130	1	0	0	0	0	1	0	0	0	9886	304	11	3	257	3	MRPS26	20	3027057	Missense_Mutation	SNP	A	TCGA-DU-A5TP-01A-11D-A289-08		3027057	59998463	28	21639											
EIF1AX	1964	broad.mit.edu	37	X	20156713	20156713	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A5TP-01A-11D-A289-08	TCGA-DU-A5TP-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d307950-3327-4ac5-95e4-5941a28fb077	dba5aeaa-a6d1-4f01-a963-e6d523f8783d	g.chrX:20156713C>T	ENST00000379607.5	-	2	247	c.44G>A	c.(43-45)gGt>gAt	p.G15D	EIF1AX_ENST00000379593.1_Intron	NM_001412.3	NP_001403.1	P47813	IF1AX_HUMAN	eukaryotic translation initiation factor 1A, X-linked	15						cytosol	translation initiation factor activity			endometrium(2)|lung(1)|ovary(1)|prostate(1)	5						CTCATTCTTACCCCTGCGTCT	0.308													22	7					0	0	1	0	0	T	20156713	C	T	20156713	3	4	130	1	0	0	0	0	1	0	0	0	5018	507	18	2	414	2	EIF1AX	23	20156713	Missense_Mutation	SNP	C	TCGA-DU-A5TP-01A-11D-A289-08		20156713	135113847	29	21640											
ATRX	546	broad.mit.edu	37	X	76938407	76938407	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-A5TP-01A-11D-A289-08	TCGA-DU-A5TP-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d307950-3327-4ac5-95e4-5941a28fb077	dba5aeaa-a6d1-4f01-a963-e6d523f8783d	g.chrX:76938407G>A	ENST00000373344.5	-	9	2555	c.2341C>T	c.(2341-2343)Cga>Tga	p.R781*	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Nonsense_Mutation_p.R743*	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	781					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)	GAACTTTTTCGTTTCCTTTTT	0.338			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						43	13					0	0	1	0	0	A	76938407	G	A	76938407	4	1	130	1	0	0	0	0	0	1	0	0	1206	1153	40	1	5245	1	ATRX	23	76938407	Nonsense_Mutation	SNP	G	TCGA-DU-A5TP-01A-11D-A289-08	56781694	76938407	78332153	30	21641											
TBC1D8B	54885	broad.mit.edu	37	X	106083910	106083910	+	Silent	SNP	T	T	C			TCGA-DU-A5TP-01A-11D-A289-08	TCGA-DU-A5TP-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d307950-3327-4ac5-95e4-5941a28fb077	dba5aeaa-a6d1-4f01-a963-e6d523f8783d	g.chrX:106083910T>C	ENST00000357242.5	+	10	1689	c.1515T>C	c.(1513-1515)aaT>aaC	p.N505N	TBC1D8B_ENST00000276175.3_Silent_p.N499N|TBC1D8B_ENST00000310452.2_Silent_p.N505N	NM_017752.2	NP_060222.2	Q0IIM8	TBC8B_HUMAN	TBC1 domain family, member 8B (with GRAM domain)	505	Rab-GAP TBC.					intracellular	calcium ion binding|Rab GTPase activator activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						GTGCTGTTAATGACATGGCTA	0.358													25	27					0	0	1	0	0	C	106083910	T	C	106083910	2	2	130	1	0	0	0	0	0	0	0	1	15686	1461	51	3		3	TBC1D8B	23	106083910	Silent	SNP	T	TCGA-DU-A5TP-01A-11D-A289-08	29145503	106083910	49186650	31	21642											
SLC2A5	6518	broad.mit.edu	37	1	9099884	9099884	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A5TR-01A-11D-A289-08	TCGA-DU-A5TR-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56852011-5aeb-486e-bb3b-a18a3dc03c9e	cb5a609e-6d17-48f8-b473-8f6f9a8fef59	g.chr1:9099884C>T	ENST00000377424.4	-	7	1039	c.860G>A	c.(859-861)gGc>gAc	p.G287D	SLC2A5_ENST00000535586.1_Missense_Mutation_p.G172D|SLC2A5_ENST00000536305.1_Missense_Mutation_p.G228D	NM_003039.2	NP_003030.1	P22732	GTR5_HUMAN	solute carrier family 2 (facilitated glucose/fructose transporter), member 5	287					carbohydrate metabolic process	integral to membrane|plasma membrane	fructose transmembrane transporter activity|glucose transmembrane transporter activity			endometrium(6)|kidney(15)|large_intestine(6)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|urinary_tract(1)	36	Ovarian(185;0.112)|all_lung(157;0.185)	all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.78e-07)|COAD - Colon adenocarcinoma(227;8.83e-05)|Kidney(185;0.000286)|KIRC - Kidney renal clear cell carcinoma(229;0.00103)|STAD - Stomach adenocarcinoma(132;0.0019)|BRCA - Breast invasive adenocarcinoma(304;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		CAGCTGCTGGCCGCCCATGAG	0.721													9	22					0	0	1	0	0	T	9099884	C	T	9099884	3	4	131	1	0	0	0	0	1	0	0	0	14603	739	26	2	669	2	SLC2A5	1	9099884	Missense_Mutation	SNP	C	TCGA-DU-A5TR-01A-11D-A289-08		9099884	240150737	1	21643											
PRAMEF2	65122	broad.mit.edu	37	1	12919085	12919085	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-A5TR-01A-11D-A289-08	TCGA-DU-A5TR-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56852011-5aeb-486e-bb3b-a18a3dc03c9e	cb5a609e-6d17-48f8-b473-8f6f9a8fef59	g.chr1:12919085A>G	ENST00000240189.2	+	2	308	c.221A>G	c.(220-222)cAt>cGt	p.H74R		NM_023014.1	NP_075390.1	O60811	PRAM2_HUMAN	PRAME family member 2	74										breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		AAGACGCTTCATCTGGAGCCA	0.562													23	223					0	0	1	0	0	G	12919085	A	G	12919085	3	3	131	1	0	0	0	0	1	0	0	0	12484	217	8	3	223	3	PRAMEF2	1	12919085	Missense_Mutation	SNP	A	TCGA-DU-A5TR-01A-11D-A289-08	3819201	12919085	236331536	2	21644											
SERINC2	347735	broad.mit.edu	37	1	31901854	31901854	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-A5TR-01A-11D-A289-08	TCGA-DU-A5TR-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56852011-5aeb-486e-bb3b-a18a3dc03c9e	cb5a609e-6d17-48f8-b473-8f6f9a8fef59	g.chr1:31901854G>T	ENST00000373710.1	+	8	1110	c.837G>T	c.(835-837)caG>caT	p.Q279H	SERINC2_ENST00000536384.1_Missense_Mutation_p.Q274H|SERINC2_ENST00000536859.1_Missense_Mutation_p.Q274H|SERINC2_ENST00000373709.3_Missense_Mutation_p.Q270H|SERINC2_ENST00000491976.1_3'UTR	NM_001199038.1	NP_001185967.1	Q96SA4	SERC2_HUMAN	serine incorporator 2	270						integral to membrane				cervix(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	12		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0629)|Breast(348;0.0707)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0541)|READ - Rectum adenocarcinoma(331;0.151)		GTCTGCTGCAGGCCTCGGTCA	0.627													9	222					0.00621372	0.00670687	1	1	0	T	31901854	G	T	31901854	3	4	131	1	0	0	0	0	1	0	0	0	14134	991	35	4	836	4	SERINC2	1	31901854	Missense_Mutation	SNP	G	TCGA-DU-A5TR-01A-11D-A289-08	18982769	31901854	217348767	3	21645											
CLCA2	9635	broad.mit.edu	37	1	86898153	86898153	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-A5TR-01A-11D-A289-08	TCGA-DU-A5TR-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56852011-5aeb-486e-bb3b-a18a3dc03c9e	cb5a609e-6d17-48f8-b473-8f6f9a8fef59	g.chr1:86898153T>A	ENST00000370565.4	+	5	848	c.686T>A	c.(685-687)aTc>aAc	p.I229N		NM_006536.5	NP_006527.1	Q9UQC9	CLCA2_HUMAN	chloride channel accessory 2	229					cell adhesion	basal plasma membrane|cell junction|extracellular region|integral to plasma membrane	chloride channel activity			NS(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	42		Lung NSC(277;0.238)		all cancers(265;0.0233)|Epithelial(280;0.0452)		TGCACCTTTATCTACAATAGC	0.378													38	87					0	0	1	0	0	A	86898153	T	A	86898153	3	1	131	1	0	0	0	0	1	0	0	0	3481	1435	50	4	704	4	CLCA2	1	86898153	Missense_Mutation	SNP	T	TCGA-DU-A5TR-01A-11D-A289-08	54996299	86898153	162352468	4	21646											
C2orf50	130813	broad.mit.edu	37	2	11273476	11273476	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-A5TR-01A-11D-A289-08	TCGA-DU-A5TR-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56852011-5aeb-486e-bb3b-a18a3dc03c9e	cb5a609e-6d17-48f8-b473-8f6f9a8fef59	g.chr2:11273476A>C	ENST00000381585.3	+	1	298	c.16A>C	c.(16-18)Acc>Ccc	p.T6P	C2orf50_ENST00000405022.3_Missense_Mutation_p.T6P			Q96LR7	CB050_HUMAN	chromosome 2 open reading frame 50	6										breast(1)|large_intestine(1)|upper_aerodigestive_tract(1)	3	all_hematologic(175;0.0797)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.0997)|OV - Ovarian serous cystadenocarcinoma(76;0.134)		GAGCCACCCCACCCCTGGGCT	0.637													9	32					0	0	1	0	0	C	11273476	A	C	11273476	3	2	131	1	0	0	0	0	1	0	0	0	2186	159	6	5	18	5	C2orf50	2	11273476	Missense_Mutation	SNP	A	TCGA-DU-A5TR-01A-11D-A289-08		11273476	231925897	5	21647											
GPR17	2840	broad.mit.edu	37	2	128408985	128408985	+	Missense_Mutation	SNP	G	G	A	rs143108762		TCGA-DU-A5TR-01A-11D-A289-08	TCGA-DU-A5TR-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56852011-5aeb-486e-bb3b-a18a3dc03c9e	cb5a609e-6d17-48f8-b473-8f6f9a8fef59	g.chr2:128408985G>A	ENST00000544369.1	+	4	1371	c.760G>A	c.(760-762)Gag>Aag	p.E254K	LIMS2_ENST00000409808.2_Intron|LIMS2_ENST00000409455.1_Intron|LIMS2_ENST00000324938.5_Intron|LIMS2_ENST00000545738.2_Intron|GPR17_ENST00000272644.3_Missense_Mutation_p.E254K|GPR17_ENST00000486700.1_3'UTR|LIMS2_ENST00000355119.4_Intron|GPR17_ENST00000393018.3_Missense_Mutation_p.E254K|LIMS2_ENST00000410011.1_Intron	NM_001161415.1	NP_001154887.1	Q13304	GPR17_HUMAN	G protein-coupled receptor 17	254						integral to plasma membrane	chemokine receptor activity|purinergic nucleotide receptor activity, G-protein coupled			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|prostate(2)|urinary_tract(1)	19	Colorectal(110;0.1)	Ovarian(717;0.15)		BRCA - Breast invasive adenocarcinoma(221;0.0677)		CCTGCGTGTGGAGAAGCGCCT	0.622													43	83					0	0	1	0	0	A	128408985	G	A	128408985	3	1	131	1	0	0	0	0	1	0	0	0	6707	1175	41	2	766	2	GPR17	2	128408985	Missense_Mutation	SNP	G	TCGA-DU-A5TR-01A-11D-A289-08	117135509	128408985	114790388	6	21648											
TTN	7273	broad.mit.edu	37	2	179436446	179436446	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A5TR-01A-11D-A289-08	TCGA-DU-A5TR-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56852011-5aeb-486e-bb3b-a18a3dc03c9e	cb5a609e-6d17-48f8-b473-8f6f9a8fef59	g.chr2:179436446C>T	ENST00000589042.1	-	326	74637	c.74413G>A	c.(74413-74415)Gtt>Att	p.V24805I	TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V15865I|TTN_ENST00000460472.2_Missense_Mutation_p.V15740I|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V15932I|TTN_ENST00000591111.1_Missense_Mutation_p.V23164I|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V22237I	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	23164	Fibronectin type-III 80.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTGTCAAGAACGATAACATTA	0.453													29	77					0	0	1	0	0	T	179436446	C	T	179436446	3	4	131	1	0	0	0	0	1	0	0	0	16797	536	19	1	33714	1	TTN	2	179436446	Missense_Mutation	SNP	C	TCGA-DU-A5TR-01A-11D-A289-08	51027461	179436446	63762927	7	21649											
AOX1	316	broad.mit.edu	37	2	201527642	201527642	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A5TR-01A-11D-A289-08	TCGA-DU-A5TR-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56852011-5aeb-486e-bb3b-a18a3dc03c9e	cb5a609e-6d17-48f8-b473-8f6f9a8fef59	g.chr2:201527642G>A	ENST00000374700.2	+	31	3734	c.3493G>A	c.(3493-3495)Gga>Aga	p.G1165R	AOX1_ENST00000485106.1_3'UTR	NM_001159.3	NP_001150.3	Q06278	ADO_HUMAN	aldehyde oxidase 1	1165					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			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)	CTTTGTTTATGGAGCTGCCTG	0.473													39	41					0	0	1	0	0	A	201527642	G	A	201527642	3	1	131	1	0	0	0	0	1	0	0	0	725	1349	47	2	3615	2	AOX1	2	201527642	Missense_Mutation	SNP	G	TCGA-DU-A5TR-01A-11D-A289-08	22091196	201527642	41671731	8	21650											
IDH1	3417	broad.mit.edu	37	2	209113113	209113113	+	Missense_Mutation	SNP	G	G	T	rs121913499		TCGA-DU-A5TR-01A-11D-A289-08	TCGA-DU-A5TR-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56852011-5aeb-486e-bb3b-a18a3dc03c9e	cb5a609e-6d17-48f8-b473-8f6f9a8fef59	g.chr2:209113113G>T	ENST00000415913.1	-	4	775	c.394C>A	c.(394-396)Cgt>Agt	p.R132S	IDH1_ENST00000446179.1_Missense_Mutation_p.R132S|IDH1_ENST00000345146.2_Missense_Mutation_p.R132S	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		TAAGCATGACGACCTATGATG	0.398			Mis		gliobastoma								29	34					1.12875e-08	1.27925e-08	1	1	0	T	209113113	G	T	209113113	3	4	131	1	0	0	0	0	1	0	0	0	7538	1058	37	5	878	5	IDH1	2	209113113	Missense_Mutation	SNP	G	TCGA-DU-A5TR-01A-11D-A289-08	7585471	209113113	34086260	9	21651											
TGFBR2	7048	broad.mit.edu	37	3	30729914	30729914	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A5TR-01A-11D-A289-08	TCGA-DU-A5TR-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56852011-5aeb-486e-bb3b-a18a3dc03c9e	cb5a609e-6d17-48f8-b473-8f6f9a8fef59	g.chr3:30729914C>T	ENST00000295754.5	+	6	1817	c.1435C>T	c.(1435-1437)Cgg>Tgg	p.R479W	TGFBR2_ENST00000359013.4_Missense_Mutation_p.R504W	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II (70/80kDa)	479	Protein kinase.				activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|vasculogenesis	caveola|external side of plasma membrane	ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						TTCCAAGGTGCGGGAGCACCC	0.502													28	86					0	0	1	0	0	T	30729914	C	T	30729914	3	4	131	1	0	0	0	0	1	0	0	0	15882	759	27	1	1536	1	TGFBR2	3	30729914	Missense_Mutation	SNP	C	TCGA-DU-A5TR-01A-11D-A289-08		30729914	167292516	10	21652											
HYAL2	8692	broad.mit.edu	37	3	50357541	50357541	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A5TR-01A-11D-A289-08	TCGA-DU-A5TR-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56852011-5aeb-486e-bb3b-a18a3dc03c9e	cb5a609e-6d17-48f8-b473-8f6f9a8fef59	g.chr3:50357541G>A	ENST00000447092.1	-	1	2672	c.380C>T	c.(379-381)gCg>gTg	p.A127V	HYAL2_ENST00000442581.1_Missense_Mutation_p.A127V|HYAL2_ENST00000357750.4_Missense_Mutation_p.A127V|HYAL2_ENST00000395139.3_Missense_Mutation_p.A127V|TUSC2_ENST00000462137.1_5'UTR			Q12891	HYAL2_HUMAN	hyaluronoglucosaminidase 2	127						anchored to membrane|lysosome|plasma membrane	hyalurononglucosaminidase activity|receptor activity			breast(1)|endometrium(2)|kidney(1)|ovary(1)|prostate(1)|skin(1)	7				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)	Hyaluronidase(DB00070)	CGCCAGCCCCGCAGACTCCTG	0.592													4	132					0	0	1	0	0	A	50357541	G	A	50357541	3	1	131	1	0	0	0	0	1	0	0	0	7508	1087	38	1	1053	1	HYAL2	3	50357541	Missense_Mutation	SNP	G	TCGA-DU-A5TR-01A-11D-A289-08	19627627	50357541	147664889	11	21653											
RHO	6010	broad.mit.edu	37	3	129251555	129251555	+	Silent	SNP	G	G	A	rs145004306	by1000genomes	TCGA-DU-A5TR-01A-11D-A289-08	TCGA-DU-A5TR-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56852011-5aeb-486e-bb3b-a18a3dc03c9e	cb5a609e-6d17-48f8-b473-8f6f9a8fef59	g.chr3:129251555G>A	ENST00000296271.3	+	4	970	c.876G>A	c.(874-876)gcG>gcA	p.A292A		NM_000539.3	NP_000530.1	P08100	OPSD_HUMAN	rhodopsin	292			A -> E (in CSNBAD1).		protein-chromophore linkage|rhodopsin mediated signaling pathway	Golgi apparatus|integral to plasma membrane|photoreceptor inner segment membrane|photoreceptor outer segment membrane	G-protein coupled receptor activity|metal ion binding|photoreceptor activity|protein binding			breast(1)|endometrium(1)|large_intestine(10)|lung(6)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	22		all_neural(597;0.0227)|Myeloproliferative disorder(1037;0.0255)|Prostate(884;0.183)		GBM - Glioblastoma multiforme(114;2.58e-05)|Lung(219;0.0234)	Halothane(DB01159)	CCATCCCAGCGTTCTTTGCCA	0.582													26	62					0	0	1	0	0	A	129251555	G	A	129251555	2	1	131	1	0	0	0	0	0	0	0	1	13380	1132	40	1		1	RHO	3	129251555	Silent	SNP	G	TCGA-DU-A5TR-01A-11D-A289-08	78894014	129251555	68770875	12	21654											
BCL6	604	broad.mit.edu	37	3	187447177	187447180	+	Frame_Shift_Del	DEL	CAGT	CAGT	-			TCGA-DU-A5TR-01A-11D-A289-08	TCGA-DU-A5TR-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56852011-5aeb-486e-bb3b-a18a3dc03c9e	cb5a609e-6d17-48f8-b473-8f6f9a8fef59	g.chr3:187447177_187447180delCAGT	ENST00000406870.2	-	5	1379_1382	c.1013_1016delACTG	c.(1012-1017)gactgcfs	p.DC338fs	RP11-211G3.3_ENST00000449623.1_Intron|BCL6_ENST00000232014.4_Frame_Shift_Del_p.DC338fs|BCL6_ENST00000450123.2_Frame_Shift_Del_p.DC338fs|RP11-211G3.3_ENST00000437407.1_Intron	NM_001706.4	NP_001697.2	P41182	BCL6_HUMAN	B-cell CLL/lymphoma 6	338					negative regulation of B cell apoptosis|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|protein import into nucleus, translocation|regulation of germinal center formation|response to DNA damage stimulus	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(9)|lung(10)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	40	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)		GTTGGGCTGGCAGTCAGATTTCTG	0.603			"T, Mis"	"IG loci, ZNFN1A1, LCP1, PIM1, TFRC, CIITA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R,  POU2AF1, ARHH, EIF4A2, SFRS3"	"NHL, CLL"								20	352	---	---	---	---						-	187447180	CAGT	-	187447177	7	5	131	1	0	1	0	1	0	0	0	0	1374	710	25	0	1128	0	BCL6	3	187447177	Frame_Shift_Del	DEL	CAGT	TCGA-DU-A5TR-01A-11D-A289-08	58195622	187447177	10575253	13	21655											
TLR1	7096	broad.mit.edu	37	4	38799264	38799264	+	Missense_Mutation	SNP	T	T	C	rs111596029		TCGA-DU-A5TR-01A-11D-A289-08	TCGA-DU-A5TR-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56852011-5aeb-486e-bb3b-a18a3dc03c9e	cb5a609e-6d17-48f8-b473-8f6f9a8fef59	g.chr4:38799264T>C	ENST00000308979.2	-	4	1462	c.1189A>G	c.(1189-1191)Atg>Gtg	p.M397V	TLR1_ENST00000502213.2_Missense_Mutation_p.M397V	NM_003263.3	NP_003254.2	Q15399	TLR1_HUMAN	toll-like receptor 1	397					cellular response to triacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|inflammatory response|innate immune response|macrophage activation|positive regulation of interleukin-6 biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	integral to plasma membrane|phagocytic vesicle membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex	protein heterodimerization activity|transmembrane receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(2)	28						AGAGACTTCATCTGTGTAGTC	0.313													9	14					0	0	1	0	0	C	38799264	T	C	38799264	3	2	131	1	0	0	0	0	1	0	0	0	16009	1435	50	3	1175	3	TLR1	4	38799264	Missense_Mutation	SNP	T	TCGA-DU-A5TR-01A-11D-A289-08		38799264	152355012	14	21656											
NDUFAF2	91942	broad.mit.edu	37	5	60241193	60241193	+	Silent	SNP	G	G	A			TCGA-DU-A5TR-01A-11D-A289-08	TCGA-DU-A5TR-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56852011-5aeb-486e-bb3b-a18a3dc03c9e	cb5a609e-6d17-48f8-b473-8f6f9a8fef59	g.chr5:60241193G>A	ENST00000296597.5	+	1	238	c.111G>A	c.(109-111)caG>caA	p.Q37Q	NDUFAF2_ENST00000511107.1_Silent_p.Q37Q	NM_174889.4	NP_777549.1	Q8N183	MIMIT_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 2	37						membrane|mitochondrion	electron carrier activity|NADH dehydrogenase (ubiquinone) activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|ovary(1)	6		Lung NSC(810;3.36e-05)|Prostate(74;0.0225)|Ovarian(174;0.17)|Breast(144;0.237)				ACATCCCGCAGTACAAGAACT	0.552													4	50					0	0	1	0	0	A	60241193	G	A	60241193	2	1	131	1	0	0	0	0	0	0	0	1	10322	1020	36	2		2	NDUFAF2	5	60241193	Silent	SNP	G	TCGA-DU-A5TR-01A-11D-A289-08		60241193	120674067	15	21657											
CD180	4064	broad.mit.edu	37	5	66479020	66479020	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A5TR-01A-11D-A289-08	TCGA-DU-A5TR-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56852011-5aeb-486e-bb3b-a18a3dc03c9e	cb5a609e-6d17-48f8-b473-8f6f9a8fef59	g.chr5:66479020C>T	ENST00000256447.4	-	3	1808	c.1651G>A	c.(1651-1653)Gct>Act	p.A551T		NM_005582.2	NP_005573.2	Q99467	CD180_HUMAN	CD180 molecule	551					inflammatory response|innate immune response	integral to membrane|plasma membrane	receptor activity			cervix(1)|endometrium(2)|kidney(7)|large_intestine(12)|liver(1)|lung(8)|ovary(1)|stomach(2)	34		Lung NSC(167;4.94e-05)|Prostate(74;0.00601)|Ovarian(174;0.0654)|Breast(144;0.198)|Colorectal(97;0.234)		Lung(70;0.0046)		CTGTTGGCAGCCAGATTGAGG	0.478													16	34					0	0	1	0	0	T	66479020	C	T	66479020	3	4	131	1	0	0	0	0	1	0	0	0	2994	739	26	2	338	2	CD180	5	66479020	Missense_Mutation	SNP	C	TCGA-DU-A5TR-01A-11D-A289-08	6237827	66479020	114436240	16	21658											
CCNB1	891	broad.mit.edu	37	5	68467121	68467121	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-A5TR-01A-11D-A289-08	TCGA-DU-A5TR-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56852011-5aeb-486e-bb3b-a18a3dc03c9e	cb5a609e-6d17-48f8-b473-8f6f9a8fef59	g.chr5:68467121A>G	ENST00000256442.5	+	4	641	c.388A>G	c.(388-390)Atg>Gtg	p.M130V		NM_031966.3	NP_114172.1	P14635	CCNB1_HUMAN	cyclin B1	130					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitotic cell cycle spindle checkpoint|mitotic metaphase plate congression|mitotic prometaphase|mitotic spindle stabilization|positive regulation of attachment of spindle microtubules to kinetochore|positive regulation of mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of cyclin-dependent protein kinase activity	condensed nuclear chromosome outer kinetochore|cytosol|microtubule organizing center|nucleoplasm|spindle pole				large_intestine(2)|lung(5)|skin(1)	8		Lung NSC(167;5.51e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.24e-56)|Epithelial(20;1.12e-52)|all cancers(19;2.63e-48)|Lung(70;0.0177)		TCCAAGCCCAATGGAAACATC	0.423													19	48					0	0	1	0	0	G	68467121	A	G	68467121	3	3	131	1	0	0	0	0	1	0	0	0	2933	101	4	3	402	3	CCNB1	5	68467121	Missense_Mutation	SNP	A	TCGA-DU-A5TR-01A-11D-A289-08	1988101	68467121	112448139	17	21659											
ADAMTS2	9509	broad.mit.edu	37	5	178581152	178581152	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-A5TR-01A-11D-A289-08	TCGA-DU-A5TR-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56852011-5aeb-486e-bb3b-a18a3dc03c9e	cb5a609e-6d17-48f8-b473-8f6f9a8fef59	g.chr5:178581152T>C	ENST00000251582.7	-	8	1381	c.1280A>G	c.(1279-1281)gAc>gGc	p.D427G	ADAMTS2_ENST00000274609.5_Missense_Mutation_p.D427G	NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	427	Peptidase M12B.				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		CCGCACCTCGTCGCCACAGCG	0.706													4	9					0	0	1	0	0	C	178581152	T	C	178581152	3	2	131	1	0	0	0	0	1	0	0	0	264	1667	58	3	2490	3	ADAMTS2	5	178581152	Missense_Mutation	SNP	T	TCGA-DU-A5TR-01A-11D-A289-08	110114031	178581152	2334108	18	21660											
UTRN	7402	broad.mit.edu	37	6	144724310	144724310	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A5TR-01A-11D-A289-08	TCGA-DU-A5TR-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56852011-5aeb-486e-bb3b-a18a3dc03c9e	cb5a609e-6d17-48f8-b473-8f6f9a8fef59	g.chr6:144724310G>A	ENST00000367545.3	+	2	131	c.131G>A	c.(130-132)cGa>cAa	p.R44Q		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	44	Actin-binding.|CH 1.				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		ATAAATGCTCGATTTTCAAAG	0.393													17	17					0	0	1	0	0	A	144724310	G	A	144724310	3	1	131	1	0	0	0	0	1	0	0	0	17163	1058	37	1	137	1	UTRN	6	144724310	Missense_Mutation	SNP	G	TCGA-DU-A5TR-01A-11D-A289-08		144724310	26390757	19	21661											
FIGNL1	63979	broad.mit.edu	37	7	50513439	50513439	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-A5TR-01A-11D-A289-08	TCGA-DU-A5TR-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56852011-5aeb-486e-bb3b-a18a3dc03c9e	cb5a609e-6d17-48f8-b473-8f6f9a8fef59	g.chr7:50513439G>C	ENST00000419119.1	-	2	3100	c.1547C>G	c.(1546-1548)tCt>tGt	p.S516C	FIGNL1_ENST00000433017.1_Missense_Mutation_p.S516C|FIGNL1_ENST00000356889.4_Missense_Mutation_p.S516C|FIGNL1_ENST00000395556.2_Missense_Mutation_p.S516C			Q6PIW4	FIGL1_HUMAN	fidgetin-like 1	516					ATP metabolic process|negative regulation of apoptosis|osteoblast differentiation|osteoblast proliferation|regulation of cell cycle	cytoplasm|nucleus	ATP binding|magnesium ion binding|nucleoside-triphosphatase activity			endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	29	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;3.73e-08)|all_hematologic(4;7.51e-06)				CCTTCTAGAAGATTCATGCTC	0.408													38	130					0	0	1	0	0	C	50513439	G	C	50513439	3	2	131	1	0	0	0	0	1	0	0	0	5925	942	33	4	481	4	FIGNL1	7	50513439	Missense_Mutation	SNP	G	TCGA-DU-A5TR-01A-11D-A289-08		50513439	108625224	20	21662											
NSUN5	55695	broad.mit.edu	37	7	72717707	72717707	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-A5TR-01A-11D-A289-08	TCGA-DU-A5TR-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56852011-5aeb-486e-bb3b-a18a3dc03c9e	cb5a609e-6d17-48f8-b473-8f6f9a8fef59	g.chr7:72717707G>C	ENST00000428206.1	-	9	1075	c.1062C>G	c.(1060-1062)caC>caG	p.H354Q	NSUN5_ENST00000438747.2_Missense_Mutation_p.H392Q|NSUN5_ENST00000310326.8_Missense_Mutation_p.H392Q|NSUN5_ENST00000252594.6_Missense_Mutation_p.H392Q	NM_001168348.1	NP_001161820.1	Q96P11	NSUN5_HUMAN	NOP2/Sun domain family, member 5	392							methyltransferase activity			breast(1)|endometrium(3)|large_intestine(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	8		Lung NSC(55;0.163)				TCAGGCCTCGGTGGGGCCAGG	0.662													16	75					0	0	1	0	0	C	72717707	G	C	72717707	3	2	131	1	0	0	0	0	1	0	0	0	10729	1252	44	5	253	5	NSUN5	7	72717707	Missense_Mutation	SNP	G	TCGA-DU-A5TR-01A-11D-A289-08	22204268	72717707	86420956	21	21663											
CNOT4	4850	broad.mit.edu	37	7	135106922	135106922	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A5TR-01A-11D-A289-08	TCGA-DU-A5TR-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56852011-5aeb-486e-bb3b-a18a3dc03c9e	cb5a609e-6d17-48f8-b473-8f6f9a8fef59	g.chr7:135106922G>A	ENST00000428680.2	-	3	634	c.355C>T	c.(355-357)Cgc>Tgc	p.R119C	CNOT4_ENST00000361528.4_Missense_Mutation_p.R119C|CNOT4_ENST00000315544.5_Missense_Mutation_p.R119C|CNOT4_ENST00000541284.1_Missense_Mutation_p.R119C|CNOT4_ENST00000451834.1_Missense_Mutation_p.R119C|CNOT4_ENST00000414802.1_Missense_Mutation_p.R119C|CNOT4_ENST00000423368.2_Missense_Mutation_p.R119C|CNOT4_ENST00000356162.4_Missense_Mutation_p.R119C	NM_001008225.2	NP_001008226.1	O95628	CNOT4_HUMAN	CCR4-NOT transcription complex, subunit 4	119	RRM.				nuclear-transcribed mRNA poly(A) tail shortening|protein autoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	nucleotide binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	22						TCTGCTAGGCGCTGAGATAAA	0.363													4	98					0	0	1	0	0	A	135106922	G	A	135106922	3	1	131	1	0	0	0	0	1	0	0	0	3644	1087	38	1	1705	1	CNOT4	7	135106922	Missense_Mutation	SNP	G	TCGA-DU-A5TR-01A-11D-A289-08	62389215	135106922	24031741	22	21664											
SSPO	23145	broad.mit.edu	37	7	149527827	149527827	+	RNA	DEL	C	C	-			TCGA-DU-A5TR-01A-11D-A289-08	TCGA-DU-A5TR-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56852011-5aeb-486e-bb3b-a18a3dc03c9e	cb5a609e-6d17-48f8-b473-8f6f9a8fef59	g.chr7:149527827delC	ENST00000378016.2	+	0	15142							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			TCCTCCTGTGCCGTCCCCCAC	0.622													2	4	---	---	---	---						-	149527827	C	-	149527827	6	5	131	0	1	1	0	1	0	0	0	0	15245	754	26	0		0	SSPO	7	149527827	RNA	DEL	C	TCGA-DU-A5TR-01A-11D-A289-08	14420905	149527827	9610836	23	21665											
ASPH	444	broad.mit.edu	37	8	62460709	62460709	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A5TR-01A-11D-A289-08	TCGA-DU-A5TR-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56852011-5aeb-486e-bb3b-a18a3dc03c9e	cb5a609e-6d17-48f8-b473-8f6f9a8fef59	g.chr8:62460709C>T	ENST00000541428.1	-	21	1758	c.1598G>A	c.(1597-1599)cGc>cAc	p.R533H	ASPH_ENST00000379454.4_Missense_Mutation_p.R562H	NM_001164750.1	NP_001158222.1	Q12797	ASPH_HUMAN	aspartate beta-hydroxylase	562					muscle contraction	integral to endoplasmic reticulum membrane	calcium ion binding|electron carrier activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity|structural constituent of muscle			breast(1)|cervix(1)|endometrium(5)|large_intestine(5)|lung(16)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	Lung SC(2;0.153)	Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101)			L-Aspartic Acid(DB00128)|Succinic acid(DB00139)	GTAGAGTGAGCGTTGCCAGAC	0.448													35	58					0	0	1	0	0	T	62460709	C	T	62460709	3	4	131	1	0	0	0	0	1	0	0	0	1052	768	27	1	611	1	ASPH	8	62460709	Missense_Mutation	SNP	C	TCGA-DU-A5TR-01A-11D-A289-08		62460709	83903313	24	21666											
PKHD1L1	93035	broad.mit.edu	37	8	110477192	110477192	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A5TR-01A-11D-A289-08	TCGA-DU-A5TR-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56852011-5aeb-486e-bb3b-a18a3dc03c9e	cb5a609e-6d17-48f8-b473-8f6f9a8fef59	g.chr8:110477192G>A	ENST00000378402.5	+	49	8235	c.8131G>A	c.(8131-8133)Ggc>Agc	p.G2711S		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2711					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CAAAATAGTCGGCCATCTTGA	0.463										HNSCC(38;0.096)			48	108					0	0	1	0	0	A	110477192	G	A	110477192	3	1	131	1	0	0	0	0	1	0	0	0	12020	1116	39	1	8325	1	PKHD1L1	8	110477192	Missense_Mutation	SNP	G	TCGA-DU-A5TR-01A-11D-A289-08	48016483	110477192	35886830	25	21667											
IL33	90865	broad.mit.edu	37	9	6253587	6253587	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A5TR-01A-11D-A289-08	TCGA-DU-A5TR-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56852011-5aeb-486e-bb3b-a18a3dc03c9e	cb5a609e-6d17-48f8-b473-8f6f9a8fef59	g.chr9:6253587C>T	ENST00000381434.3	+	5	518	c.505C>T	c.(505-507)Ccc>Tcc	p.P169S	IL33_ENST00000456383.2_Missense_Mutation_p.P127S|IL33_ENST00000417746.2_Missense_Mutation_p.P43S	NM_033439.3	NP_254274.1	O95760	IL33_HUMAN	interleukin 33	169					positive regulation of chemokine secretion|positive regulation of inflammatory response|positive regulation of macrophage activation|positive regulation of transcription from RNA polymerase II promoter	extracellular space	cytokine activity			breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|stomach(1)|urinary_tract(1)	16		Acute lymphoblastic leukemia(23;0.158)|Prostate(43;0.167)		GBM - Glioblastoma multiforme(50;0.0161)|Lung(218;0.105)		GTCTCAACACCCCTCAAATGA	0.383													11	33					0	0	1	0	0	T	6253587	C	T	6253587	3	4	131	1	0	0	0	0	1	0	0	0	7737	623	22	2	523	2	IL33	9	6253587	Missense_Mutation	SNP	C	TCGA-DU-A5TR-01A-11D-A289-08		6253587	134959844	26	21668											
FPGS	2356	broad.mit.edu	37	9	130575671	130575671	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-A5TR-01A-11D-A289-08	TCGA-DU-A5TR-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56852011-5aeb-486e-bb3b-a18a3dc03c9e	cb5a609e-6d17-48f8-b473-8f6f9a8fef59	g.chr9:130575671A>G	ENST00000373225.3	+	15	1611	c.1402A>G	c.(1402-1404)Agc>Ggc	p.S468G	FPGS_ENST00000393706.2_Missense_Mutation_p.S492G|FPGS_ENST00000373247.2_Missense_Mutation_p.S518G|FPGS_ENST00000460181.1_3'UTR|FPGS_ENST00000373245.1_3'UTR	NM_001018078.1	NP_001018088.1	Q05932	FOLC_HUMAN	folylpolyglutamate synthase	518					folic acid metabolic process|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|one-carbon metabolic process	cytosol|mitochondrial matrix	ATP binding|tetrahydrofolylpolyglutamate synthase activity			endometrium(2)|kidney(1)|lung(3)|ovary(1)	7					L-Glutamic Acid(DB00142)	CCTCGTCTTCAGCTGCATTTC	0.652													52	118					0	0	1	0	0	G	130575671	A	G	130575671	3	3	131	1	0	0	0	0	1	0	0	0	6070	188	7	3	1610	3	FPGS	9	130575671	Missense_Mutation	SNP	A	TCGA-DU-A5TR-01A-11D-A289-08	124322084	130575671	10637760	27	21669											
NOTCH1	4851	broad.mit.edu	37	9	139412326	139412326	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-A5TR-01A-11D-A289-08	TCGA-DU-A5TR-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56852011-5aeb-486e-bb3b-a18a3dc03c9e	cb5a609e-6d17-48f8-b473-8f6f9a8fef59	g.chr9:139412326C>G	ENST00000277541.6	-	8	1394	c.1319G>C	c.(1318-1320)tGt>tCt	p.C440S		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	440	EGF-like 11; calcium-binding (Potential).				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GCCCTGCAGACACTGGCACTC	0.657			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			25	68					0	0	1	0	0	G	139412326	C	G	139412326	3	3	131	1	0	0	0	0	1	0	0	0	10594	478	17	5	6456	5	NOTCH1	9	139412326	Missense_Mutation	SNP	C	TCGA-DU-A5TR-01A-11D-A289-08	8836655	139412326	1801105	28	21670											
ITPRIP	85450	broad.mit.edu	37	10	106074373	106074373	+	Silent	SNP	G	G	A			TCGA-DU-A5TR-01A-11D-A289-08	TCGA-DU-A5TR-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56852011-5aeb-486e-bb3b-a18a3dc03c9e	cb5a609e-6d17-48f8-b473-8f6f9a8fef59	g.chr10:106074373G>A	ENST00000278071.2	-	3	1889	c.1437C>T	c.(1435-1437)atC>atT	p.I479I	ITPRIP_ENST00000358187.2_Silent_p.I479I|ITPRIP_ENST00000337478.1_Silent_p.I479I	NM_033397.2	NP_203755.1	Q8IWB1	IPRI_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein	479						plasma membrane				breast(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(9)|upper_aerodigestive_tract(1)	20						TGCGGTTGCCGATGAAGAAGT	0.637													4	109					0	0	1	0	0	A	106074373	G	A	106074373	2	1	131	1	0	0	0	0	0	0	0	1	7967	1048	37	1		1	ITPRIP	10	106074373	Silent	SNP	G	TCGA-DU-A5TR-01A-11D-A289-08		106074373	29460374	29	21671											
ATE1	11101	broad.mit.edu	37	10	123673408	123673408	+	Splice_Site	SNP	C	C	A			TCGA-DU-A5TR-01A-11D-A289-08	TCGA-DU-A5TR-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56852011-5aeb-486e-bb3b-a18a3dc03c9e	cb5a609e-6d17-48f8-b473-8f6f9a8fef59	g.chr10:123673408C>A	ENST00000369043.3	-	4	320	c.234G>T	c.(232-234)agG>agT	p.R78S	ATE1_ENST00000543447.1_Intron|ATE1_ENST00000369040.3_5'UTR|ATE1_ENST00000535655.1_5'UTR|ATE1_ENST00000224652.6_Splice_Site_p.R78S|ATE1_ENST00000540606.1_Splice_Site_p.R71S	NM_007041.2	NP_008972.2	O95260	ATE1_HUMAN	arginyltransferase 1	78					protein arginylation	cytoplasm|nucleus	acyltransferase activity|arginyltransferase activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		all_neural(114;0.061)|Lung NSC(174;0.095)|all_lung(145;0.124)|Breast(234;0.212)				AAGGTCGGCACCTAGGAAAGC	0.363													3	35					0.115264	0.116984	1	1	0	A	123673408	C	A	123673408	5	1	131	1	0	0	0	0	0	0	1	0	1077	521	18	5	1491	5	ATE1	10	123673408	Splice_Site	SNP	C	TCGA-DU-A5TR-01A-11D-A289-08	17599035	123673408	11861339	30	21672											
OR10A3	26496	broad.mit.edu	37	11	7960884	7960884	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-A5TR-01A-11D-A289-08	TCGA-DU-A5TR-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56852011-5aeb-486e-bb3b-a18a3dc03c9e	cb5a609e-6d17-48f8-b473-8f6f9a8fef59	g.chr11:7960884A>C	ENST00000360759.3	-	1	257	c.184T>G	c.(184-186)Ttc>Gtc	p.F62V		NM_001003745.1	NP_001003745.1	P58181	O10A3_HUMAN	olfactory receptor, family 10, subfamily A, member 3	62					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)	21				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TTCAGGAGGAACAGGTACATG	0.453													45	40					0	0	1	0	0	C	7960884	A	C	7960884	3	2	131	1	0	0	0	0	1	0	0	0	10939	43	2	5	763	5	OR10A3	11	7960884	Missense_Mutation	SNP	A	TCGA-DU-A5TR-01A-11D-A289-08		7960884	127045632	31	21673											
AMBRA1	55626	broad.mit.edu	37	11	46563768	46563768	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-A5TR-01A-11D-A289-08	TCGA-DU-A5TR-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56852011-5aeb-486e-bb3b-a18a3dc03c9e	cb5a609e-6d17-48f8-b473-8f6f9a8fef59	g.chr11:46563768C>T	ENST00000458649.2	-	7	2217	c.1799G>A	c.(1798-1800)tGg>tAg	p.W600*	AMBRA1_ENST00000298834.3_Nonsense_Mutation_p.W600*|AMBRA1_ENST00000426438.1_Nonsense_Mutation_p.W600*|AMBRA1_ENST00000314845.3_Nonsense_Mutation_p.W510*|AMBRA1_ENST00000533727.1_Nonsense_Mutation_p.W510*|AMBRA1_ENST00000528950.1_Nonsense_Mutation_p.W600*|AMBRA1_ENST00000534300.1_Nonsense_Mutation_p.W600*			Q9C0C7	AMRA1_HUMAN	autophagy/beclin-1 regulator 1	600	Ser-rich.				autophagy|cell differentiation|nervous system development	autophagic vacuole|cytoplasmic vesicle				NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		GGGGACCTGCCAAGAGGAACT	0.592													18	23					0	0	1	0	0	T	46563768	C	T	46563768	4	4	131	1	0	0	0	0	0	1	0	0	561	595	21	2	2145	2	AMBRA1	11	46563768	Nonsense_Mutation	SNP	C	TCGA-DU-A5TR-01A-11D-A289-08	38602884	46563768	88442748	32	21674											
ATN1	1822	broad.mit.edu	37	12	7045025	7045025	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-A5TR-01A-11D-A289-08	TCGA-DU-A5TR-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56852011-5aeb-486e-bb3b-a18a3dc03c9e	cb5a609e-6d17-48f8-b473-8f6f9a8fef59	g.chr12:7045025G>C	ENST00000356654.4	+	5	832	c.595G>C	c.(595-597)Gag>Cag	p.E199Q	ATN1_ENST00000396684.2_Missense_Mutation_p.E199Q	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN	atrophin 1	199					cell death|central nervous system development	cytoplasm|nucleus	protein domain specific binding			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						TGCTCCCATGGAGCCCCCCAC	0.617													8	160					0	0	1	0	0	C	7045025	G	C	7045025	3	2	131	1	0	0	0	0	1	0	0	0	1110	1175	41	5	609	5	ATN1	12	7045025	Missense_Mutation	SNP	G	TCGA-DU-A5TR-01A-11D-A289-08		7045025	126806870	33	21675											
RPH3A	22895	broad.mit.edu	37	12	113325686	113325686	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-A5TR-01A-11D-A289-08	TCGA-DU-A5TR-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56852011-5aeb-486e-bb3b-a18a3dc03c9e	cb5a609e-6d17-48f8-b473-8f6f9a8fef59	g.chr12:113325686C>A	ENST00000389385.4	+	17	2018	c.1521C>A	c.(1519-1521)aaC>aaA	p.N507K	RPH3A_ENST00000548866.1_Missense_Mutation_p.N458K|RPH3A_ENST00000551052.1_Missense_Mutation_p.N503K|RPH3A_ENST00000543106.2_Missense_Mutation_p.N507K|RPH3A_ENST00000549913.2_3'UTR|RPH3A_ENST00000415485.3_Missense_Mutation_p.N507K|RPH3A_ENST00000447659.2_Missense_Mutation_p.N458K|RPH3A_ENST00000420983.2_Missense_Mutation_p.N507K	NM_001143854.1|NM_014954.3	NP_001137326.1|NP_055769.2	Q9Y2J0	RP3A_HUMAN	rabphilin 3A homolog (mouse)	507					intracellular protein transport	cell junction|synaptic vesicle	Rab GTPase binding|transporter activity|zinc ion binding			breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1)	47				BRCA - Breast invasive adenocarcinoma(302;0.00453)		TGAAGCCCAACCAGAGGAAGA	0.498													6	229					5.9392e-07	6.62075e-07	1	1	0	A	113325686	C	A	113325686	3	1	131	1	0	0	0	0	1	0	0	0	13603	506	18	5	1579	5	RPH3A	12	113325686	Missense_Mutation	SNP	C	TCGA-DU-A5TR-01A-11D-A289-08	106280661	113325686	20526209	34	21676											
MPHOSPH9	10198	broad.mit.edu	37	12	123649912	123649912	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-A5TR-01A-11D-A289-08	TCGA-DU-A5TR-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56852011-5aeb-486e-bb3b-a18a3dc03c9e	cb5a609e-6d17-48f8-b473-8f6f9a8fef59	g.chr12:123649912G>C	ENST00000606320.1	-	18	2910	c.2704C>G	c.(2704-2706)Ctt>Gtt	p.L902V	MPHOSPH9_ENST00000541076.2_Missense_Mutation_p.L872V|MPHOSPH9_ENST00000302349.5_Missense_Mutation_p.L750V|MPHOSPH9_ENST00000392425.3_Missense_Mutation_p.L750V			Q99550	MPP9_HUMAN	M-phase phosphoprotein 9	750					M phase of mitotic cell cycle	centriole|Golgi membrane				NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(18)|prostate(2)|skin(1)	33	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000182)|Epithelial(86;0.00046)|BRCA - Breast invasive adenocarcinoma(302;0.169)		CCCTCATCAAGTTCTTTTAAA	0.373													6	80					0	0	1	0	0	C	123649912	G	C	123649912	3	2	131	1	0	0	0	0	1	0	0	0	9777	1029	36	4	875	4	MPHOSPH9	12	123649912	Missense_Mutation	SNP	G	TCGA-DU-A5TR-01A-11D-A289-08	10324226	123649912	10201983	35	21677											
KLHL28	54813	broad.mit.edu	37	14	45403339	45403339	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-A5TR-01A-11D-A289-08	TCGA-DU-A5TR-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56852011-5aeb-486e-bb3b-a18a3dc03c9e	cb5a609e-6d17-48f8-b473-8f6f9a8fef59	g.chr14:45403339T>C	ENST00000396128.4	-	3	1441	c.1322A>G	c.(1321-1323)tAt>tGt	p.Y441C	KLHL28_ENST00000355081.2_Missense_Mutation_p.Y455C	NM_017658.3	NP_060128.2	Q9NXS3	KLH28_HUMAN	kelch-like family member 28	441										breast(2)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						GGCAGGACCATACCCACCAAT	0.363													20	39					0	0	1	0	0	C	45403339	T	C	45403339	3	2	131	1	0	0	0	0	1	0	0	0	8425	1406	49	3	405	3	KLHL28	14	45403339	Missense_Mutation	SNP	T	TCGA-DU-A5TR-01A-11D-A289-08		45403339	61946201	36	21678											
GANC	2595	broad.mit.edu	37	15	42600494	42600494	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-A5TR-01A-11D-A289-08	TCGA-DU-A5TR-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56852011-5aeb-486e-bb3b-a18a3dc03c9e	cb5a609e-6d17-48f8-b473-8f6f9a8fef59	g.chr15:42600494T>C	ENST00000318010.8	+	8	940	c.700T>C	c.(700-702)Tca>Cca	p.S234P	GANC_ENST00000566442.1_Missense_Mutation_p.S234P	NM_198141.2	NP_937784.2	Q8TET4	GANC_HUMAN	glucosidase, alpha; neutral C	234					carbohydrate metabolic process		carbohydrate binding|maltose alpha-glucosidase activity			breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_cancers(109;3.08e-16)|all_epithelial(112;7.48e-15)|Lung NSC(122;3.08e-09)|all_lung(180;1.48e-08)|Melanoma(134;0.0574)|Colorectal(260;0.153)		GBM - Glioblastoma multiforme(94;1.06e-06)		ACATGCAGAATCACACCAACT	0.393													52	94					0	0	1	0	0	C	42600494	T	C	42600494	3	2	131	1	0	0	0	0	1	0	0	0	6274	1435	50	3	730	3	GANC	15	42600494	Missense_Mutation	SNP	T	TCGA-DU-A5TR-01A-11D-A289-08		42600494	59930898	37	21679											
NLRP1	22861	broad.mit.edu	37	17	5442862	5442862	+	Missense_Mutation	SNP	C	C	T	rs148522172		TCGA-DU-A5TR-01A-11D-A289-08	TCGA-DU-A5TR-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56852011-5aeb-486e-bb3b-a18a3dc03c9e	cb5a609e-6d17-48f8-b473-8f6f9a8fef59	g.chr17:5442862C>T	ENST00000345221.3	-	7	3297	c.2743G>A	c.(2743-2745)Gcc>Acc	p.A915T	NLRP1_ENST00000577119.1_Missense_Mutation_p.A915T|NLRP1_ENST00000269280.4_Missense_Mutation_p.A915T|NLRP1_ENST00000571307.1_5'UTR|NLRP1_ENST00000354411.3_Missense_Mutation_p.A915T|NLRP1_ENST00000572272.1_Missense_Mutation_p.A915T|NLRP1_ENST00000262467.5_Missense_Mutation_p.A915T	NM_014922.4|NM_033004.3|NM_033007.3	NP_055737.1|NP_127497.1|NP_127500.1	Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	915					defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	cytoplasm|NALP1 inflammasome complex|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				AGCACAGAGGCCAGGTCCTGG	0.612													6	42					0	0	1	0	0	T	5442862	C	T	5442862	3	4	131	1	0	0	0	0	1	0	0	0	10518	739	26	2	1797	2	NLRP1	17	5442862	Missense_Mutation	SNP	C	TCGA-DU-A5TR-01A-11D-A289-08		5442862	75752348	38	21680											
TP53	7157	broad.mit.edu	37	17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	rs121913343		TCGA-DU-A5TR-01A-11D-A289-08	TCGA-DU-A5TR-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56852011-5aeb-486e-bb3b-a18a3dc03c9e	cb5a609e-6d17-48f8-b473-8f6f9a8fef59	g.chr17:7577121G>A	ENST00000420246.2	-	8	949	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000269305.4_Missense_Mutation_p.R273C|TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	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).		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.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			20	16					0	0	1	0	0	A	7577121	G	A	7577121	3	1	131	1	0	0	0	0	1	0	0	0	16442	1087	38	1	469	1	TP53	17	7577121	Missense_Mutation	SNP	G	TCGA-DU-A5TR-01A-11D-A289-08	2134259	7577121	73618089	39	21681											
ABCA10	10349	broad.mit.edu	37	17	67189276	67189276	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-A5TR-01A-11D-A289-08	TCGA-DU-A5TR-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56852011-5aeb-486e-bb3b-a18a3dc03c9e	cb5a609e-6d17-48f8-b473-8f6f9a8fef59	g.chr17:67189276G>C	ENST00000269081.4	-	16	2664	c.1755C>G	c.(1753-1755)ttC>ttG	p.F585L	ABCA10_ENST00000416101.2_3'UTR	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	585	ABC transporter 1.				transport	integral to membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					CCTCATCCATGAATTGGGTAC	0.418													23	84					0	0	1	0	0	C	67189276	G	C	67189276	3	2	131	1	0	0	0	0	1	0	0	0	29	1281	45	5	2976	5	ABCA10	17	67189276	Missense_Mutation	SNP	G	TCGA-DU-A5TR-01A-11D-A289-08	59612155	67189276	14005934	40	21682											
MEX3D	399664	broad.mit.edu	37	19	1556792	1556792	+	Silent	SNP	C	C	T			TCGA-DU-A5TR-01A-11D-A289-08	TCGA-DU-A5TR-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56852011-5aeb-486e-bb3b-a18a3dc03c9e	cb5a609e-6d17-48f8-b473-8f6f9a8fef59	g.chr19:1556792C>T	ENST00000402693.4	-	2	725	c.726G>A	c.(724-726)tcG>tcA	p.S242S	MEX3D_ENST00000388824.6_Silent_p.S242S	NM_203304.3	NP_976049.3	Q86XN8	MEX3D_HUMAN	mex-3 RNA binding family member D	242					mRNA destabilization|posttranscriptional regulation of gene expression by mRNA localization|regulation of anti-apoptosis	nucleus|perinuclear region of cytoplasm	AU-rich element binding|zinc ion binding			endometrium(1)|lung(3)	4		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|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)		GTTCGGCCGCCGACAGGATCT	0.682													27	73					0	0	1	0	0	T	1556792	C	T	1556792	2	4	131	1	0	0	0	0	0	0	0	1	9562	639	23	1		1	MEX3D	19	1556792	Silent	SNP	C	TCGA-DU-A5TR-01A-11D-A289-08		1556792	57572191	41	21683											
MUC16	94025	broad.mit.edu	37	19	9080468	9080468	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-A5TR-01A-11D-A289-08	TCGA-DU-A5TR-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56852011-5aeb-486e-bb3b-a18a3dc03c9e	cb5a609e-6d17-48f8-b473-8f6f9a8fef59	g.chr19:9080468G>T	ENST00000397910.4	-	2	9766	c.9563C>A	c.(9562-9564)aCg>aAg	p.T3188K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3189	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ACTGCTCCCCGTCTCCTCTGC	0.463													4	128					0.00024832	0.000272351	1	1	0	T	9080468	G	T	9080468	3	4	131	1	0	0	0	0	1	0	0	0	10021	1145	40	5	34292	5	MUC16	19	9080468	Missense_Mutation	SNP	G	TCGA-DU-A5TR-01A-11D-A289-08	7523676	9080468	50048515	42	21684											
NWD1	284434	broad.mit.edu	37	19	16860397	16860397	+	Missense_Mutation	SNP	G	G	A	rs143471757	byFrequency	TCGA-DU-A5TR-01A-11D-A289-08	TCGA-DU-A5TR-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56852011-5aeb-486e-bb3b-a18a3dc03c9e	cb5a609e-6d17-48f8-b473-8f6f9a8fef59	g.chr19:16860397G>A	ENST00000524140.2	+	6	1362	c.944G>A	c.(943-945)cGc>cAc	p.R315H	NWD1_ENST00000523826.1_Missense_Mutation_p.R109H|NWD1_ENST00000339803.6_Missense_Mutation_p.R180H|NWD1_ENST00000379808.3_Missense_Mutation_p.R315H|NWD1_ENST00000552788.1_Missense_Mutation_p.R315H|NWD1_ENST00000549814.1_Missense_Mutation_p.R315H	NM_001007525.3	NP_001007526.3	Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	315							ATP binding			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						TTCTGCGGACGCCAGGAACTC	0.622													31	52					0	0	1	0	0	A	16860397	G	A	16860397	3	1	131	1	0	0	0	0	1	0	0	0	10829	1087	38	1	545	1	NWD1	19	16860397	Missense_Mutation	SNP	G	TCGA-DU-A5TR-01A-11D-A289-08	7779929	16860397	42268586	43	21685											
ZNF776	284309	broad.mit.edu	37	19	58264700	58264700	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-A5TR-01A-11D-A289-08	TCGA-DU-A5TR-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56852011-5aeb-486e-bb3b-a18a3dc03c9e	cb5a609e-6d17-48f8-b473-8f6f9a8fef59	g.chr19:58264700A>G	ENST00000317178.5	+	3	465	c.202A>G	c.(202-204)Acc>Gcc	p.T68A	ZNF776_ENST00000431353.1_3'UTR|AC003006.7_ENST00000594684.1_Missense_Mutation_p.T68A	NM_173632.3	NP_775903.3			zinc finger protein 776											cervix(1)|endometrium(2)|kidney(13)|large_intestine(3)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	31		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0256)		TTCTAAGCAGACCCTTTCTAT	0.463													39	93					0	0	1	0	0	G	58264700	A	G	58264700	3	3	131	1	0	0	0	0	1	0	0	0	18198	275	10	3	212	3	ZNF776	19	58264700	Missense_Mutation	SNP	A	TCGA-DU-A5TR-01A-11D-A289-08	41404303	58264700	864283	44	21686											
SALL4	57167	broad.mit.edu	37	20	50407510	50407510	+	Silent	SNP	G	G	A	rs138804604	byFrequency	TCGA-DU-A5TR-01A-11D-A289-08	TCGA-DU-A5TR-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56852011-5aeb-486e-bb3b-a18a3dc03c9e	cb5a609e-6d17-48f8-b473-8f6f9a8fef59	g.chr20:50407510G>A	ENST00000217086.4	-	2	1623	c.1512C>T	c.(1510-1512)ccC>ccT	p.P504P	SALL4_ENST00000371539.3_Intron|SALL4_ENST00000395997.3_Intron	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4	504					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GCAGGTCACCGGGCAAGGAGC	0.567													6	212					0	0	1	0	0	A	50407510	G	A	50407510	2	1	131	1	0	0	0	0	0	0	0	1	13865	1103	39	1		1	SALL4	20	50407510	Silent	SNP	G	TCGA-DU-A5TR-01A-11D-A289-08		50407510	12618010	45	21687											
CTCFL	140690	broad.mit.edu	37	20	56093842	56093842	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A5TR-01A-11D-A289-08	TCGA-DU-A5TR-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56852011-5aeb-486e-bb3b-a18a3dc03c9e	cb5a609e-6d17-48f8-b473-8f6f9a8fef59	g.chr20:56093842C>T	ENST00000608263.1	-	4	1692	c.1031G>A	c.(1030-1032)tGt>tAt	p.C344Y	CTCFL_ENST00000432255.2_Missense_Mutation_p.C344Y|CTCFL_ENST00000609232.1_Missense_Mutation_p.C344Y|CTCFL_ENST00000481655.2_Missense_Mutation_p.C344Y|CTCFL_ENST00000371196.2_Missense_Mutation_p.C344Y|CTCFL_ENST00000608440.1_Missense_Mutation_p.C344Y|CTCFL_ENST00000429804.3_Missense_Mutation_p.C344Y|CTCFL_ENST00000422869.2_Missense_Mutation_p.C344Y|CTCFL_ENST00000608425.1_Missense_Mutation_p.C344Y|CTCFL_ENST00000608858.1_5'UTR|CTCFL_ENST00000608158.1_Missense_Mutation_p.C344Y|CTCFL_ENST00000608903.1_Missense_Mutation_p.C82Y|CTCFL_ENST00000423479.3_Missense_Mutation_p.C344Y|CTCFL_ENST00000539382.1_Missense_Mutation_p.C139Y|CTCFL_ENST00000433949.3_Missense_Mutation_p.C139Y|CTCFL_ENST00000502686.2_Missense_Mutation_p.C82Y|CTCFL_ENST00000243914.3_Missense_Mutation_p.C344Y	NM_001269041.1	NP_001255970.1	Q8NI51	CTCFL_HUMAN	CCCTC-binding factor (zinc finger protein)-like						cell cycle|DNA methylation involved in gamete generation|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent	cytoplasm|nucleus	histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			GCACATGGAACATTTAAAGGG	0.458													7	154					0	0	1	0	0	T	56093842	C	T	56093842	3	4	131	1	0	0	0	0	1	0	0	0	4025	478	17	2	988	2	CTCFL	20	56093842	Missense_Mutation	SNP	C	TCGA-DU-A5TR-01A-11D-A289-08	5686332	56093842	6931678	46	21688											
ATRX	546	broad.mit.edu	37	X	76875911	76875911	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-A5TR-01A-11D-A289-08	TCGA-DU-A5TR-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56852011-5aeb-486e-bb3b-a18a3dc03c9e	cb5a609e-6d17-48f8-b473-8f6f9a8fef59	g.chrX:76875911T>C	ENST00000373344.5	-	20	5438	c.5224A>G	c.(5224-5226)Agg>Ggg	p.R1742G	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.R1704G	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1742	Helicase ATP-binding.		R -> K (in ATRX; atypical; patients presents spastic paraplegia at birth).		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)	ATAATCCTCCTCCTTGATCGT	0.328			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						29	8					0	0	1	0	0	C	76875911	T	C	76875911	3	2	131	1	0	0	0	0	1	0	0	0	1206	1550	54	3	2318	3	ATRX	23	76875911	Missense_Mutation	SNP	T	TCGA-DU-A5TR-01A-11D-A289-08		76875911	78394649	47	21689											
KLHL17	339451	broad.mit.edu	37	1	897822	897822	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A5TS-01A-11D-A289-08	TCGA-DU-A5TS-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3696edf-3956-4285-bfdc-6f273fe969da	e1fa7dc9-6e6e-4502-a676-cd96ea6ebe59	g.chr1:897822G>A	ENST00000338591.3	+	5	906	c.799G>A	c.(799-801)Gtg>Atg	p.V267M		NM_198317.2	NP_938073.1	Q6TDP4	KLH17_HUMAN	kelch-like family member 17	267	BACK.				actin cytoskeleton organization	actin cytoskeleton|cell junction|postsynaptic density|postsynaptic membrane	protein complex scaffold			central_nervous_system(1)|kidney(2)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.52e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.59e-23)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000469)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		GAAACACGACGTGGACGCCCG	0.677													12	74					0	0	1	0	0	A	897822	G	A	897822	3	1	132	1	0	0	0	0	1	0	0	0	8415	1145	40	1	817	1	KLHL17	1	897822	Missense_Mutation	SNP	G	TCGA-DU-A5TS-01A-11D-A289-08		897822	248352799	1	21690											
AP4B1	10717	broad.mit.edu	37	1	114443970	114443970	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A5TS-01A-11D-A289-08	TCGA-DU-A5TS-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3696edf-3956-4285-bfdc-6f273fe969da	e1fa7dc9-6e6e-4502-a676-cd96ea6ebe59	g.chr1:114443970G>A	ENST00000369569.1	-	4	785	c.505C>T	c.(505-507)Cgt>Tgt	p.R169C	AP4B1_ENST00000256658.4_Missense_Mutation_p.R169C|AP4B1_ENST00000369567.1_Intron|AP4B1_ENST00000369566.3_Intron	NM_001253852.1	NP_001240781.1	Q9Y6B7	AP4B1_HUMAN	adaptor-related protein complex 4, beta 1 subunit	169					intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|soluble fraction|trans-Golgi network	protein binding|protein transporter activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|prostate(3)	25	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TCCTGGTCACGCAGCAAACTG	0.413													14	62					0	0	1	0	0	A	114443970	G	A	114443970	3	1	132	1	0	0	0	0	1	0	0	0	747	1087	38	1	1742	1	AP4B1	1	114443970	Missense_Mutation	SNP	G	TCGA-DU-A5TS-01A-11D-A289-08	113546148	114443970	134806651	2	21691											
SEMA4A	64218	broad.mit.edu	37	1	156144932	156144932	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-A5TS-01A-11D-A289-08	TCGA-DU-A5TS-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3696edf-3956-4285-bfdc-6f273fe969da	e1fa7dc9-6e6e-4502-a676-cd96ea6ebe59	g.chr1:156144932G>T	ENST00000368285.3	+	13	1757	c.1490G>T	c.(1489-1491)tGt>tTt	p.C497F	SEMA4A_ENST00000355014.2_Missense_Mutation_p.C497F|SEMA4A_ENST00000368286.2_Missense_Mutation_p.C365F|SEMA4A_ENST00000487358.1_3'UTR|SEMA4A_ENST00000368284.1_Missense_Mutation_p.C365F|SEMA4A_ENST00000368282.1_Missense_Mutation_p.C497F	NM_001193300.1|NM_022367.3	NP_001180229.1|NP_071762.2	Q9H3S1	SEM4A_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A	497	PSI.				axon guidance	integral to membrane|plasma membrane	receptor activity			breast(1)|ovary(2)|skin(2)	5	Hepatocellular(266;0.158)					CGAGCCAACTGTAGTGTCTAT	0.602													37	322					7.04047e-22	7.56199e-22	1	1	0	T	156144932	G	T	156144932	3	4	132	1	0	0	0	0	1	0	0	0	14085	1377	48	5	1536	5	SEMA4A	1	156144932	Missense_Mutation	SNP	G	TCGA-DU-A5TS-01A-11D-A289-08	41700962	156144932	93105689	3	21692											
NCSTN	23385	broad.mit.edu	37	1	160321849	160321851	+	In_Frame_Del	DEL	TAG	TAG	-			TCGA-DU-A5TS-01A-11D-A289-08	TCGA-DU-A5TS-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3696edf-3956-4285-bfdc-6f273fe969da	e1fa7dc9-6e6e-4502-a676-cd96ea6ebe59	g.chr1:160321849_160321851delTAG	ENST00000368063.1	+	9	1069_1071	c.789_791delTAG	c.(787-792)gatagt>gat	p.S264del	NCSTN_ENST00000459963.1_3'UTR|NCSTN_ENST00000535857.1_Intron|NCSTN_ENST00000392212.4_In_Frame_Del_p.S264del|NCSTN_ENST00000368065.4_In_Frame_Del_p.S26del|NCSTN_ENST00000294785.5_In_Frame_Del_p.S284del			Q92542	NICA_HUMAN	nicastrin	284					amyloid precursor protein catabolic process|apoptosis|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity|protein processing	endoplasmic reticulum|Golgi apparatus|integral to plasma membrane|melanosome	protein binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(2)	34	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CCTAGCTGGATAGTCGTTCCTTT	0.488													23	73	---	---	---	---						-	160321851	TAG	-	160321849	7	5	132	1	0	1	0	1	0	0	0	0	10288	1403	49	0	879	0	NCSTN	1	160321849	In_Frame_Del	DEL	TAG	TCGA-DU-A5TS-01A-11D-A289-08	4176917	160321849	88928772	4	21693											
RFWD2	64326	broad.mit.edu	37	1	175957522	175957523	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-DU-A5TS-01A-11D-A289-08	TCGA-DU-A5TS-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3696edf-3956-4285-bfdc-6f273fe969da	e1fa7dc9-6e6e-4502-a676-cd96ea6ebe59	g.chr1:175957522_175957523delCA	ENST00000367669.3	-	17	2387_2388	c.1873_1874delTG	c.(1873-1875)tggfs	p.W625fs	RFWD2_ENST00000308769.8_Frame_Shift_Del_p.W601fs	NM_022457.5	NP_071902.2	Q8NHY2	RFWD2_HUMAN	ring finger and WD repeat domain 2, E3 ubiquitin protein ligase	625					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest	centrosome|cytosol|focal adhesion|nuclear speck	protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						CCCTACATTCCACAGTTTTAGC	0.391													19	22	---	---	---	---						-	175957523	CA	-	175957522	7	5	132	1	0	1	0	1	0	0	0	0	13312	595	21	0	337	0	RFWD2	1	175957522	Frame_Shift_Del	DEL	CA	TCGA-DU-A5TS-01A-11D-A289-08	15635673	175957522	73293099	5	21694											
HMCN1	83872	broad.mit.edu	37	1	185969241	185969241	+	Silent	SNP	C	C	T			TCGA-DU-A5TS-01A-11D-A289-08	TCGA-DU-A5TS-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3696edf-3956-4285-bfdc-6f273fe969da	e1fa7dc9-6e6e-4502-a676-cd96ea6ebe59	g.chr1:185969241C>T	ENST00000271588.4	+	26	4168	c.3939C>T	c.(3937-3939)ggC>ggT	p.G1313G	HMCN1_ENST00000367492.2_Silent_p.G1313G	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	1313	Ig-like C2-type 10.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GAGAGCCTGGCATTTCTATCT	0.413													16	37					0	0	1	0	0	T	185969241	C	T	185969241	2	4	132	1	0	0	0	0	0	0	0	1	7261	697	25	2		2	HMCN1	1	185969241	Silent	SNP	C	TCGA-DU-A5TS-01A-11D-A289-08	10011719	185969241	63281380	6	21695											
IL19	29949	broad.mit.edu	37	1	207010002	207010005	+	Splice_Site	DEL	GCAG	GCAG	-			TCGA-DU-A5TS-01A-11D-A289-08	TCGA-DU-A5TS-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3696edf-3956-4285-bfdc-6f273fe969da	e1fa7dc9-6e6e-4502-a676-cd96ea6ebe59	g.chr1:207010002_207010005delGCAG	ENST00000270218.6	+	3	937		c.e3-1		IL19_ENST00000340758.2_Splice_Site	NM_013371.3	NP_037503.2	Q9UHD0	IL19_HUMAN	interleukin 19						apoptosis|immune response|signal transduction	extracellular space	cytokine activity			central_nervous_system(2)|large_intestine(1)|lung(2)|ovary(1)|stomach(1)	7			BRCA - Breast invasive adenocarcinoma(75;0.211)			TCTCCTTTCTGCAGGCATGAAGTT	0.51													24	82	---	---	---	---						-	207010005	GCAG	-	207010002	8	5	132	1	0	1	0	1	0	0	1	0	7693	1334	46	0		0	IL19	1	207010002	Splice_Site	DEL	GCAG	TCGA-DU-A5TS-01A-11D-A289-08	21040761	207010002	42240619	7	21696											
PCNXL2	80003	broad.mit.edu	37	1	233394931	233394931	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A5TS-01A-11D-A289-08	TCGA-DU-A5TS-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3696edf-3956-4285-bfdc-6f273fe969da	e1fa7dc9-6e6e-4502-a676-cd96ea6ebe59	g.chr1:233394931C>T	ENST00000258229.9	-	5	911	c.677G>A	c.(676-678)gGt>gAt	p.G226D	PCNXL2_ENST00000430153.1_5'UTR	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)							integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				CTTTCCTTTACCATTGATGAG	0.507													48	70					0	0	1	0	0	T	233394931	C	T	233394931	3	4	132	1	0	0	0	0	1	0	0	0	11639	507	18	2	5856	2	PCNXL2	1	233394931	Missense_Mutation	SNP	C	TCGA-DU-A5TS-01A-11D-A289-08	26384929	233394931	15855690	8	21697											
DNMT3A	1788	broad.mit.edu	37	2	25467457	25467457	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A5TS-01A-11D-A289-08	TCGA-DU-A5TS-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3696edf-3956-4285-bfdc-6f273fe969da	e1fa7dc9-6e6e-4502-a676-cd96ea6ebe59	g.chr2:25467457C>T	ENST00000264709.3	-	14	1956	c.1619G>A	c.(1618-1620)tGc>tAc	p.C540Y	DNMT3A_ENST00000402667.1_Missense_Mutation_p.C317Y|DNMT3A_ENST00000380746.4_Missense_Mutation_p.C351Y|DNMT3A_ENST00000321117.5_Missense_Mutation_p.C540Y	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	540	ADD.|Interaction with the PRC2/EED-EZH2 complex (By similarity).				regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCCCCCACAGCAGATGGTGCA	0.602			"Mis, F, N, S"		AML								23	31					0	0	1	0	0	T	25467457	C	T	25467457	3	4	132	1	0	0	0	0	1	0	0	0	4703	710	25	2	1159	2	DNMT3A	2	25467457	Missense_Mutation	SNP	C	TCGA-DU-A5TS-01A-11D-A289-08		25467457	217731916	9	21698											
WDR92	116143	broad.mit.edu	37	2	68385203	68385203	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A5TS-01A-11D-A289-08	TCGA-DU-A5TS-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3696edf-3956-4285-bfdc-6f273fe969da	e1fa7dc9-6e6e-4502-a676-cd96ea6ebe59	g.chr2:68385203G>A	ENST00000406334.3	-	7	705	c.487C>T	c.(487-489)Cgg>Tgg	p.R163W	PNO1_ENST00000263657.2_Missense_Mutation_p.R46H						0																	GATGCGGGCCGCATGGACACA	0.677													3	31					0	0	1	0	0	A	68385203	G	A	68385203	3	1	132	1	0	0	0	0	1	0	0	0	17399	1087	38	1		1	WDR92	2	68385203	Missense_Mutation	SNP	G	TCGA-DU-A5TS-01A-11D-A289-08	42917746	68385203	174814170	10	21699											
ADD2	119	broad.mit.edu	37	2	70919611	70919611	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-A5TS-01A-11D-A289-08	TCGA-DU-A5TS-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3696edf-3956-4285-bfdc-6f273fe969da	e1fa7dc9-6e6e-4502-a676-cd96ea6ebe59	g.chr2:70919611C>G	ENST00000264436.4	-	7	1073	c.629G>C	c.(628-630)tGt>tCt	p.C210S	ADD2_ENST00000407644.2_Missense_Mutation_p.C210S|ADD2_ENST00000413157.2_Missense_Mutation_p.C210S|ADD2_ENST00000430656.1_Missense_Mutation_p.C226S|ADD2_ENST00000355733.3_Missense_Mutation_p.C210S	NM_001617.3	NP_001608.1	P35612	ADDB_HUMAN	adducin 2 (beta)						actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding	cytoplasm|F-actin capping protein complex|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding			autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						CGAGTGCAGACAGAAGCCTGT	0.597													3	34					0	0	1	0	0	G	70919611	C	G	70919611	3	3	132	1	0	0	0	0	1	0	0	0	304	478	17	5	1768	5	ADD2	2	70919611	Missense_Mutation	SNP	C	TCGA-DU-A5TS-01A-11D-A289-08	2534408	70919611	172279762	11	21700											
PKP4	8502	broad.mit.edu	37	2	159537147	159537147	+	Silent	SNP	T	T	C			TCGA-DU-A5TS-01A-11D-A289-08	TCGA-DU-A5TS-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3696edf-3956-4285-bfdc-6f273fe969da	e1fa7dc9-6e6e-4502-a676-cd96ea6ebe59	g.chr2:159537147T>C	ENST00000389757.3	+	21	3533	c.3408T>C	c.(3406-3408)taT>taC	p.Y1136Y	AC005042.4_ENST00000342892.4_RNA|PKP4_ENST00000389759.3_Silent_p.Y1179Y|AC005042.4_ENST00000442666.1_RNA	NM_001005476.1	NP_001005476.1	Q99569	PKP4_HUMAN	plakophilin 4	1179					cell adhesion	desmosome	protein binding			breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	61						GACCTTCTTATAGAGCAGAAC	0.428										HNSCC(62;0.18)			46	79					0	0	1	0	0	C	159537147	T	C	159537147	2	2	132	1	0	0	0	0	0	0	0	1	12035	1413	49	3		3	PKP4	2	159537147	Silent	SNP	T	TCGA-DU-A5TS-01A-11D-A289-08	88617536	159537147	83662226	12	21701											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-DU-A5TS-01A-11D-A289-08	TCGA-DU-A5TS-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3696edf-3956-4285-bfdc-6f273fe969da	e1fa7dc9-6e6e-4502-a676-cd96ea6ebe59	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	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								19	41					0	0	1	0	0	T	209113112	C	T	209113112	3	4	132	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-DU-A5TS-01A-11D-A289-08	49575965	209113112	34086261	13	21702											
RHBDD1	84236	broad.mit.edu	37	2	227729609	227729609	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A5TS-01A-11D-A289-08	TCGA-DU-A5TS-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3696edf-3956-4285-bfdc-6f273fe969da	e1fa7dc9-6e6e-4502-a676-cd96ea6ebe59	g.chr2:227729609G>A	ENST00000392062.2	+	4	724	c.200G>A	c.(199-201)cGt>cAt	p.R67H	RHBDD1_ENST00000341329.3_Missense_Mutation_p.R67H	NM_001167608.1	NP_001161080.1	Q8TEB9	RHBD1_HUMAN	rhomboid domain containing 1	67						integral to membrane	serine-type endopeptidase activity			breast(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19		Renal(207;0.023)|all_lung(227;0.13)|Esophageal squamous(248;0.23)|all_hematologic(139;0.248)		Epithelial(121;1.47e-11)|all cancers(144;1.52e-08)|Lung(261;0.0128)|LUSC - Lung squamous cell carcinoma(224;0.0175)		GACTGGCAGCGTTTACTGCTC	0.453													30	72					0	0	1	0	0	A	227729609	G	A	227729609	3	1	132	1	0	0	0	0	1	0	0	0	13366	1145	40	1	202	1	RHBDD1	2	227729609	Missense_Mutation	SNP	G	TCGA-DU-A5TS-01A-11D-A289-08	18616497	227729609	15469764	14	21703											
USP40	55230	broad.mit.edu	37	2	234408535	234408535	+	Silent	SNP	A	A	G			TCGA-DU-A5TS-01A-11D-A289-08	TCGA-DU-A5TS-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3696edf-3956-4285-bfdc-6f273fe969da	e1fa7dc9-6e6e-4502-a676-cd96ea6ebe59	g.chr2:234408535A>G	ENST00000251722.6	-	22	2754	c.2637T>C	c.(2635-2637)tcT>tcC	p.S879S	USP40_ENST00000409945.1_Silent_p.S55S|USP40_ENST00000427112.2_Silent_p.S879S|USP40_ENST00000450966.1_Silent_p.S891S			Q9NVE5	UBP40_HUMAN	ubiquitin specific peptidase 40	879					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(1)|endometrium(6)|kidney(5)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539)		Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646)		CTTGTAGGCCAGATTTCTTCA	0.308													11	17					0	0	1	0	0	G	234408535	A	G	234408535	2	3	132	1	0	0	0	0	0	0	0	1	17132	175	7	3		3	USP40	2	234408535	Silent	SNP	A	TCGA-DU-A5TS-01A-11D-A289-08	6678926	234408535	8790838	15	21704											
STAB1	23166	broad.mit.edu	37	3	52539710	52539710	+	Silent	SNP	C	C	T			TCGA-DU-A5TS-01A-11D-A289-08	TCGA-DU-A5TS-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3696edf-3956-4285-bfdc-6f273fe969da	e1fa7dc9-6e6e-4502-a676-cd96ea6ebe59	g.chr3:52539710C>T	ENST00000321725.6	+	15	1684	c.1608C>T	c.(1606-1608)gaC>gaT	p.D536D		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	536	FAS1 2.				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		CCATCCTGGACGGACCTGGGC	0.637													19	42					0	0	1	0	0	T	52539710	C	T	52539710	2	4	132	1	0	0	0	0	0	0	0	1	15293	535	19	1		1	STAB1	3	52539710	Silent	SNP	C	TCGA-DU-A5TS-01A-11D-A289-08		52539710	145482720	16	21705											
OR5H14	403273	broad.mit.edu	37	3	97868537	97868537	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A5TS-01A-11D-A289-08	TCGA-DU-A5TS-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3696edf-3956-4285-bfdc-6f273fe969da	e1fa7dc9-6e6e-4502-a676-cd96ea6ebe59	g.chr3:97868537C>T	ENST00000437310.1	+	1	368	c.308C>T	c.(307-309)tCg>tTg	p.S103L		NM_001005514.1	NP_001005514.1	A6NHG9	O5H14_HUMAN	olfactory receptor, family 5, subfamily H, member 14	103					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S103L(1)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						CAGTTGTTTTCGTTTGCAATC	0.393													11	183					0	0	1	0	0	T	97868537	C	T	97868537	3	4	132	1	0	0	0	0	1	0	0	0	11207	893	31	1	310	1	OR5H14	3	97868537	Missense_Mutation	SNP	C	TCGA-DU-A5TS-01A-11D-A289-08	45328827	97868537	100153893	17	21706											
CD2AP	23607	broad.mit.edu	37	6	47575765	47575765	+	Splice_Site	SNP	G	G	A			TCGA-DU-A5TS-01A-11D-A289-08	TCGA-DU-A5TS-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3696edf-3956-4285-bfdc-6f273fe969da	e1fa7dc9-6e6e-4502-a676-cd96ea6ebe59	g.chr6:47575765G>A	ENST00000359314.5	+	15	2088		c.e15+1		CD2AP_ENST00000486693.1_Splice_Site	NM_012120.2	NP_036252.1	Q9Y5K6	CD2AP_HUMAN	CD2-associated protein						cell division|mitosis|protein complex assembly|signal transduction|substrate-dependent cell migration, cell extension	cytoplasm|filamentous actin|nucleolus|plasma membrane|ruffle	SH3 domain binding|structural constituent of cytoskeleton			kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	20			Lung(136;0.105)|LUSC - Lung squamous cell carcinoma(51;0.138)			CTCTCCAAAGGTGAGGTGCAT	0.383													21	32					0	0	1	0	0	A	47575765	G	A	47575765	5	1	132	1	0	0	0	0	0	0	1	0	3016	1275	44	2	1691	2	CD2AP	6	47575765	Splice_Site	SNP	G	TCGA-DU-A5TS-01A-11D-A289-08		47575765	123539302	18	21707											
KCNV2	169522	broad.mit.edu	37	9	2718275	2718275	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A5TS-01A-11D-A289-08	TCGA-DU-A5TS-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3696edf-3956-4285-bfdc-6f273fe969da	e1fa7dc9-6e6e-4502-a676-cd96ea6ebe59	g.chr9:2718275G>A	ENST00000382082.3	+	1	774	c.536G>A	c.(535-537)cGc>cAc	p.R179H		NM_133497.3	NP_598004.1	Q8TDN2	KCNV2_HUMAN	potassium channel, subfamily V, member 2	179						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	35				GBM - Glioblastoma multiforme(50;0.0257)		CTGTGTCCGCGCCGCTTCCTG	0.647													18	19					0	0	1	0	0	A	2718275	G	A	2718275	3	1	132	1	0	0	0	0	1	0	0	0	8139	1087	38	1	538	1	KCNV2	9	2718275	Missense_Mutation	SNP	G	TCGA-DU-A5TS-01A-11D-A289-08		2718275	138495156	19	21708											
CACNA1B	774	broad.mit.edu	37	9	140946556	140946556	+	Silent	SNP	G	G	A			TCGA-DU-A5TS-01A-11D-A289-08	TCGA-DU-A5TS-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3696edf-3956-4285-bfdc-6f273fe969da	e1fa7dc9-6e6e-4502-a676-cd96ea6ebe59	g.chr9:140946556G>A	ENST00000277549.5	+	26	3880	c.1311G>A	c.(1309-1311)ggG>ggA	p.G437G	CACNA1B_ENST00000371363.1_Silent_p.G1241G|CACNA1B_ENST00000277551.2_Silent_p.G1241G|CACNA1B_ENST00000371355.4_Silent_p.G1242G|CACNA1B_ENST00000371357.1_Silent_p.G1242G|CACNA1B_ENST00000371372.1_Silent_p.G1241G			Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	1241					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	GATCCAAAGGGAAAGACATCA	0.577													9	17					0	0	1	0	0	A	140946556	G	A	140946556	2	1	132	1	0	0	0	0	0	0	0	1	2557	1161	41	2		2	CACNA1B	9	140946556	Silent	SNP	G	TCGA-DU-A5TS-01A-11D-A289-08	138228281	140946556	266875	20	21709											
PTER	9317	broad.mit.edu	37	10	16547111	16547111	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-A5TS-01A-11D-A289-08	TCGA-DU-A5TS-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3696edf-3956-4285-bfdc-6f273fe969da	e1fa7dc9-6e6e-4502-a676-cd96ea6ebe59	g.chr10:16547111A>G	ENST00000378000.1	+	5	1037	c.791A>G	c.(790-792)cAa>cGa	p.Q264R	PTER_ENST00000535784.2_Missense_Mutation_p.Q264R|PTER_ENST00000298942.3_Missense_Mutation_p.Q264R|PTER_ENST00000423462.2_Intron	NM_001001484.2|NM_001261838.1|NM_030664.4	NP_001001484.1|NP_001248767.1|NP_109589.2	Q96BW5	PTER_HUMAN	phosphotriesterase related	264					catabolic process		hydrolase activity, acting on ester bonds|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)	15						CTTCATTACCAACTCGGCCCA	0.393													46	66					0	0	1	0	0	G	16547111	A	G	16547111	3	3	132	1	0	0	0	0	1	0	0	0	12788	130	5	3	801	3	PTER	10	16547111	Missense_Mutation	SNP	A	TCGA-DU-A5TS-01A-11D-A289-08		16547111	118987636	21	21710											
ANKRD30A	91074	broad.mit.edu	37	10	37508226	37508226	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-A5TS-01A-11D-A289-08	TCGA-DU-A5TS-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3696edf-3956-4285-bfdc-6f273fe969da	e1fa7dc9-6e6e-4502-a676-cd96ea6ebe59	g.chr10:37508226G>T	ENST00000374660.1	+	40	3874	c.3775G>T	c.(3775-3777)Gaa>Taa	p.E1259*	ANKRD30A_ENST00000361713.1_Nonsense_Mutation_p.E1140*|ANKRD30A_ENST00000602533.1_Nonsense_Mutation_p.E1140*			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	1196						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						GGCAGAAATTGAATCACACCA	0.393													26	64					2.41591e-17	2.50219e-17	1	1	0	T	37508226	G	T	37508226	4	4	132	1	0	0	0	0	0	1	0	0	654	1291	45	5	3552	5	ANKRD30A	10	37508226	Nonsense_Mutation	SNP	G	TCGA-DU-A5TS-01A-11D-A289-08	20961115	37508226	98026521	22	21711											
ANK3	288	broad.mit.edu	37	10	61848084	61848084	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A5TS-01A-11D-A289-08	TCGA-DU-A5TS-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3696edf-3956-4285-bfdc-6f273fe969da	e1fa7dc9-6e6e-4502-a676-cd96ea6ebe59	g.chr10:61848084G>A	ENST00000280772.2	-	29	3552	c.3361C>T	c.(3361-3363)Cgt>Tgt	p.R1121C	ANK3_ENST00000503366.1_Missense_Mutation_p.R1122C|ANK3_ENST00000355288.2_Missense_Mutation_p.R255C|ANK3_ENST00000373827.2_Missense_Mutation_p.R1115C	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)						establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						CTGCAGATACGCTTTTTCCCT	0.398													8	60					0	0	1	0	0	A	61848084	G	A	61848084	3	1	132	1	0	0	0	0	1	0	0	0	618	1087	38	1	10145	1	ANK3	10	61848084	Missense_Mutation	SNP	G	TCGA-DU-A5TS-01A-11D-A289-08	24339858	61848084	73686663	23	21712											
SUFU	51684	broad.mit.edu	37	10	104353823	104353823	+	Splice_Site	SNP	G	G	T			TCGA-DU-A5TS-01A-11D-A289-08	TCGA-DU-A5TS-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3696edf-3956-4285-bfdc-6f273fe969da	e1fa7dc9-6e6e-4502-a676-cd96ea6ebe59	g.chr10:104353823G>T	ENST00000369902.3	+	6	922		c.e6+1		SUFU_ENST00000369899.2_Splice_Site|SUFU_ENST00000423559.2_Splice_Site|SUFU_ENST00000471000.1_Splice_Site	NM_016169.3	NP_057253.2	Q9UMX1	SUFU_HUMAN	suppressor of fused homolog (Drosophila)						negative regulation of transcription from RNA polymerase II promoter|proteolysis|skeletal system development	cytoplasm|nucleus	identical protein binding|protein binding|signal transducer activity|transcription corepressor activity|transcription factor binding			breast(2)|central_nervous_system(7)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(2)	24		Colorectal(252;0.207)		Epithelial(162;1.36e-08)|all cancers(201;3.81e-07)|BRCA - Breast invasive adenocarcinoma(275;0.242)		ACACCTGCAAGTATGTCTTGA	0.502			"D, F, S"		medulloblastoma	medulloblastoma			Medulloblastoma, associated with Germline SUFU Mutation				36	68					1.836e-18	1.93615e-18	1	1	0	T	104353823	G	T	104353823	5	4	132	1	0	0	0	0	0	0	1	0	15424	1043	36	4	779	4	SUFU	10	104353823	Splice_Site	SNP	G	TCGA-DU-A5TS-01A-11D-A289-08	42505739	104353823	31180924	24	21713											
MYO7A	4647	broad.mit.edu	37	11	76912498	76912498	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A5TS-01A-11D-A289-08	TCGA-DU-A5TS-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3696edf-3956-4285-bfdc-6f273fe969da	e1fa7dc9-6e6e-4502-a676-cd96ea6ebe59	g.chr11:76912498G>A	ENST00000409709.3	+	36	5130	c.4858G>A	c.(4858-4860)Gag>Aag	p.E1620K	MYO7A_ENST00000458637.2_Missense_Mutation_p.E1582K|MYO7A_ENST00000409619.2_Missense_Mutation_p.E1571K	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	1620	SH3.				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						TACAGCAGGCGAGGAGTCAGG	0.567													8	17					0	0	1	0	0	A	76912498	G	A	76912498	3	1	132	1	0	0	0	0	1	0	0	0	10130	1059	37	1	5030	1	MYO7A	11	76912498	Missense_Mutation	SNP	G	TCGA-DU-A5TS-01A-11D-A289-08		76912498	58094018	25	21714											
NCAPD2	9918	broad.mit.edu	37	12	6636155	6636155	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-A5TS-01A-11D-A289-08	TCGA-DU-A5TS-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3696edf-3956-4285-bfdc-6f273fe969da	e1fa7dc9-6e6e-4502-a676-cd96ea6ebe59	g.chr12:6636155G>C	ENST00000315579.5	+	22	3632	c.2833G>C	c.(2833-2835)Gtg>Ctg	p.V945L	NCAPD2_ENST00000542492.1_3'UTR|NCAPD2_ENST00000545962.1_Missense_Mutation_p.V900L	NM_014865.3	NP_055680.3	Q15021	CND1_HUMAN	non-SMC condensin I complex, subunit D2	945					cell division|mitotic chromosome condensation	condensin core heterodimer|cytoplasm	histone binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	48						GGAGCAGGCAGTGAGTGGAGA	0.592													139	113					0	0	1	0	0	C	6636155	G	C	6636155	3	2	132	1	0	0	0	0	1	0	0	0	10252	1029	36	4	2915	4	NCAPD2	12	6636155	Missense_Mutation	SNP	G	TCGA-DU-A5TS-01A-11D-A289-08		6636155	127215740	26	21715											
NACA	4666	broad.mit.edu	37	12	57112865	57112865	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-A5TS-01A-11D-A289-08	TCGA-DU-A5TS-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3696edf-3956-4285-bfdc-6f273fe969da	e1fa7dc9-6e6e-4502-a676-cd96ea6ebe59	g.chr12:57112865G>C	ENST00000454682.1	-	3	2730	c.2449C>G	c.(2449-2451)Cct>Gct	p.P817A	NACA_ENST00000393891.4_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000548563.1_Intron	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN	nascent polypeptide-associated complex alpha subunit	0					interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						GGAGTATCAGGGCCAGCAGAA	0.458			T	BCL6	NHL								14	18					0	0	1	0	0	C	57112865	G	C	57112865	3	2	132	1	0	0	0	0	1	0	0	0	10181	1232	43	5	3815	5	NACA	12	57112865	Missense_Mutation	SNP	G	TCGA-DU-A5TS-01A-11D-A289-08	50476710	57112865	76739030	27	21716											
NAV3	89795	broad.mit.edu	37	12	78415595	78415595	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-A5TS-01A-11D-A289-08	TCGA-DU-A5TS-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3696edf-3956-4285-bfdc-6f273fe969da	e1fa7dc9-6e6e-4502-a676-cd96ea6ebe59	g.chr12:78415595A>G	ENST00000397909.2	+	9	2149	c.1976A>G	c.(1975-1977)gAc>gGc	p.D659G	NAV3_ENST00000228327.6_Missense_Mutation_p.D659G|NAV3_ENST00000266692.7_Missense_Mutation_p.D659G|NAV3_ENST00000536525.2_Missense_Mutation_p.D659G			Q8IVL0	NAV3_HUMAN	neuron navigator 3	659						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						ACAAAGATGGACTTATCATAT	0.418										HNSCC(70;0.22)			39	53					0	0	1	0	0	G	78415595	A	G	78415595	3	3	132	1	0	0	0	0	1	0	0	0	10233	275	10	3	2010	3	NAV3	12	78415595	Missense_Mutation	SNP	A	TCGA-DU-A5TS-01A-11D-A289-08	21302730	78415595	55436300	28	21717											
RASSF9	9182	broad.mit.edu	37	12	86199245	86199245	+	Silent	SNP	A	A	G			TCGA-DU-A5TS-01A-11D-A289-08	TCGA-DU-A5TS-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3696edf-3956-4285-bfdc-6f273fe969da	e1fa7dc9-6e6e-4502-a676-cd96ea6ebe59	g.chr12:86199245A>G	ENST00000361228.3	-	2	911	c.543T>C	c.(541-543)gaT>gaC	p.D181D		NM_005447.3	NP_005438.2	O75901	RASF9_HUMAN	Ras association (RalGDS/AF-6) domain family (N-terminal) member 9	181					endosome transport|protein targeting|signal transduction	cytosol|endosome|trans-Golgi network transport vesicle membrane	protein binding|transporter activity			endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TCTCCATATTATCTCGATCAT	0.373													17	104					0	0	1	0	0	G	86199245	A	G	86199245	2	3	132	1	0	0	0	0	0	0	0	1	13145	446	16	3		3	RASSF9	12	86199245	Silent	SNP	A	TCGA-DU-A5TS-01A-11D-A289-08	7783650	86199245	47652650	29	21718											
SETD8	387893	broad.mit.edu	37	12	123889487	123889487	+	Silent	SNP	G	G	A			TCGA-DU-A5TS-01A-11D-A289-08	TCGA-DU-A5TS-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3696edf-3956-4285-bfdc-6f273fe969da	e1fa7dc9-6e6e-4502-a676-cd96ea6ebe59	g.chr12:123889487G>A	ENST00000402868.3	+	7	1140	c.714G>A	c.(712-714)cgG>cgA	p.R238R	SETD8_ENST00000330479.4_Silent_p.R238R			Q9NQR1	SETD8_HUMAN	SET domain containing (lysine methyltransferase) 8	279					cell division|mitosis|negative regulation of transcription from RNA polymerase II promoter|peptidyl-lysine monomethylation|regulation of DNA damage response, signal transduction by p53 class mediator|transcription, DNA-dependent	chromosome|nucleus	histone-lysine N-methyltransferase activity|p53 binding|transcription corepressor activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(3)|urinary_tract(1)	13	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.00101)|Epithelial(86;0.00425)		AGTTCTCCCGGGGTGACTTTG	0.547													38	55					0	0	1	0	0	A	123889487	G	A	123889487	2	1	132	1	0	0	0	0	0	0	0	1	14191	1219	43	2		2	SETD8	12	123889487	Silent	SNP	G	TCGA-DU-A5TS-01A-11D-A289-08	37690242	123889487	9962408	30	21719											
ULK1	8408	broad.mit.edu	37	12	132392064	132392064	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A5TS-01A-11D-A289-08	TCGA-DU-A5TS-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3696edf-3956-4285-bfdc-6f273fe969da	e1fa7dc9-6e6e-4502-a676-cd96ea6ebe59	g.chr12:132392064G>A	ENST00000321867.4	+	5	655	c.304G>A	c.(304-306)Gac>Aac	p.D102N		NM_003565.2	NP_003556	O75385	ULK1_HUMAN	unc-51 like autophagy activating kinase 1	102	Protein kinase.				autophagy|protein localization|regulation of autophagy	autophagic vacuole|cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	ATP binding|protein complex binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	29	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07)		GGACCTGGCCGACTACCTGCA	0.711													4	31					0	0	1	0	0	A	132392064	G	A	132392064	3	1	132	1	0	0	0	0	1	0	0	0	17035	1058	37	1	322	1	ULK1	12	132392064	Missense_Mutation	SNP	G	TCGA-DU-A5TS-01A-11D-A289-08	8502577	132392064	1459831	31	21720											
RXFP2	122042	broad.mit.edu	37	13	32360543	32360543	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A5TS-01A-11D-A289-08	TCGA-DU-A5TS-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3696edf-3956-4285-bfdc-6f273fe969da	e1fa7dc9-6e6e-4502-a676-cd96ea6ebe59	g.chr13:32360543C>T	ENST00000298386.2	+	12	1024	c.953C>T	c.(952-954)aCg>aTg	p.T318M	RXFP2_ENST00000380314.1_Missense_Mutation_p.T294M	NM_130806.3	NP_570718.1	Q8WXD0	RXFP2_HUMAN	relaxin/insulin-like family peptide receptor 2	318						integral to membrane|plasma membrane				cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1)	33		Lung SC(185;0.0262)		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)		AATACGATAACGGAACTATCA	0.358													19	32					0	0	1	0	0	T	32360543	C	T	32360543	3	4	132	1	0	0	0	0	1	0	0	0	13812	536	19	1	999	1	RXFP2	13	32360543	Missense_Mutation	SNP	C	TCGA-DU-A5TS-01A-11D-A289-08		32360543	82809335	32	21721											
PNP	4860	broad.mit.edu	37	14	20940627	20940627	+	Nonsense_Mutation	SNP	C	C	T	rs104894460		TCGA-DU-A5TS-01A-11D-A289-08	TCGA-DU-A5TS-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3696edf-3956-4285-bfdc-6f273fe969da	e1fa7dc9-6e6e-4502-a676-cd96ea6ebe59	g.chr14:20940627C>T	ENST00000361505.5	+	2	318	c.172C>T	c.(172-174)Cga>Tga	p.R58*		NM_000270.3	NP_000261.2	P00491	PNPH_HUMAN	purine nucleoside phosphorylase	58					immune response|inosine catabolic process|interleukin-2 secretion|NAD biosynthesis via nicotinamide riboside salvage pathway|nicotinamide riboside catabolic process|positive regulation of alpha-beta T cell differentiation|positive regulation of T cell proliferation|purine base metabolic process|purine nucleotide catabolic process|purine-containing compound salvage|response to drug|urate biosynthetic process	cytoskeleton|cytosol	drug binding|nucleoside binding|phosphate binding|purine base binding|purine-nucleoside phosphorylase activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|stomach(2)	10					Aciclovir(DB00787)|Cladribine(DB00242)|Mercaptopurine(DB01033)	CAACTTTCCCCGAAGTACAGG	0.468													16	18					0	0	1	0	0	T	20940627	C	T	20940627	4	4	132	1	0	0	0	0	0	1	0	0	12211	644	23	1	178	1	PNP	14	20940627	Nonsense_Mutation	SNP	C	TCGA-DU-A5TS-01A-11D-A289-08		20940627	86408913	33	21722											
ZG16B	124220	broad.mit.edu	37	16	2881941	2881941	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-A5TS-01A-11D-A289-08	TCGA-DU-A5TS-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3696edf-3956-4285-bfdc-6f273fe969da	e1fa7dc9-6e6e-4502-a676-cd96ea6ebe59	g.chr16:2881941C>A	ENST00000382280.3	+	4	487	c.408C>A	c.(406-408)taC>taA	p.Y136*	ZG16B_ENST00000572863.1_Nonsense_Mutation_p.Y106*	NM_145252.2	NP_660295.2	Q96DA0	ZG16B_HUMAN	zymogen granule protein 16B	136						extracellular region	sugar binding			central_nervous_system(1)|lung(2)|ovary(1)|prostate(1)	5						TGGTCATGTACACCAGCAAGG	0.547													6	68					3.59834e-05	3.66146e-05	1	1	0	A	2881941	C	A	2881941	4	1	132	1	0	0	0	0	0	1	0	0	17730	489	17	5	422	5	ZG16B	16	2881941	Nonsense_Mutation	SNP	C	TCGA-DU-A5TS-01A-11D-A289-08		2881941	87472812	34	21723											
CNGB1	1258	broad.mit.edu	37	16	58001075	58001075	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-A5TS-01A-11D-A289-08	TCGA-DU-A5TS-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3696edf-3956-4285-bfdc-6f273fe969da	e1fa7dc9-6e6e-4502-a676-cd96ea6ebe59	g.chr16:58001075G>T	ENST00000564448.1	-	2	176	c.116C>A	c.(115-117)cCa>cAa	p.P39Q	CNGB1_ENST00000251102.8_Missense_Mutation_p.P39Q|CNGB1_ENST00000311183.4_Missense_Mutation_p.P39Q			Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1	39	Glu-rich.				sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						ATTCGGTTCTGGTTCCACCTC	0.642													44	64					2.68985e-26	2.94361e-26	1	1	0	T	58001075	G	T	58001075	3	4	132	1	0	0	0	0	1	0	0	0	3623	1348	47	5	3797	5	CNGB1	16	58001075	Missense_Mutation	SNP	G	TCGA-DU-A5TS-01A-11D-A289-08	55119134	58001075	32353678	35	21724											
ANKRD11	29123	broad.mit.edu	37	16	89357057	89357057	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A5TS-01A-11D-A289-08	TCGA-DU-A5TS-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3696edf-3956-4285-bfdc-6f273fe969da	e1fa7dc9-6e6e-4502-a676-cd96ea6ebe59	g.chr16:89357057C>T	ENST00000301030.4	-	6	1037	c.577G>A	c.(577-579)Gac>Aac	p.D193N	ANKRD11_ENST00000378330.2_Missense_Mutation_p.D193N	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	193						nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		ACGTTGACGTCTGCCCCCTCG	0.652													19	111					0	0	1	0	0	T	89357057	C	T	89357057	3	4	132	1	0	0	0	0	1	0	0	0	635	913	32	2	7446	2	ANKRD11	16	89357057	Missense_Mutation	SNP	C	TCGA-DU-A5TS-01A-11D-A289-08	31355982	89357057	997696	36	21725											
ANKRD11	29123	broad.mit.edu	37	16	89357151	89357151	+	Silent	SNP	C	C	T			TCGA-DU-A5TS-01A-11D-A289-08	TCGA-DU-A5TS-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3696edf-3956-4285-bfdc-6f273fe969da	e1fa7dc9-6e6e-4502-a676-cd96ea6ebe59	g.chr16:89357151C>T	ENST00000301030.4	-	6	943	c.483G>A	c.(481-483)gtG>gtA	p.V161V	ANKRD11_ENST00000378330.2_Silent_p.V161V	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	161						nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		TTCTCTTGTTCACTTTATCTT	0.592													19	115					0	0	1	0	0	T	89357151	C	T	89357151	2	4	132	1	0	0	0	0	0	0	0	1	635	813	29	2		2	ANKRD11	16	89357151	Silent	SNP	C	TCGA-DU-A5TS-01A-11D-A289-08	94	89357151	997602	37	21726											
ACLY	47	broad.mit.edu	37	17	40065858	40065858	+	Silent	SNP	G	G	A			TCGA-DU-A5TS-01A-11D-A289-08	TCGA-DU-A5TS-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3696edf-3956-4285-bfdc-6f273fe969da	e1fa7dc9-6e6e-4502-a676-cd96ea6ebe59	g.chr17:40065858G>A	ENST00000352035.2	-	5	571	c.441C>T	c.(439-441)gcC>gcT	p.A147A	ACLY_ENST00000393896.2_Silent_p.A147A|ACLY_ENST00000590151.1_Silent_p.A147A|ACLY_ENST00000537919.1_Intron|ACLY_ENST00000353196.1_Silent_p.A147A	NM_001096.2	NP_001087.2	P53396	ACLY_HUMAN	ATP citrate lyase	147					ATP catabolic process|cellular carbohydrate metabolic process|citrate metabolic process|coenzyme A metabolic process|energy reserve metabolic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	citrate lyase complex|cytosol|nucleus	ATP binding|ATP citrate synthase activity|citrate (pro-3S)-lyase activity|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity		NTN1/ACLY(2)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	28		Breast(137;0.000143)				TCTGGGCCTTGGCGTCCACAT	0.547													10	66					0	0	1	0	0	A	40065858	G	A	40065858	2	1	132	1	0	0	0	0	0	0	0	1	143	1335	47	2		2	ACLY	17	40065858	Silent	SNP	G	TCGA-DU-A5TS-01A-11D-A289-08		40065858	41129352	38	21727											
CASKIN2	57513	broad.mit.edu	37	17	73498548	73498548	+	Silent	SNP	C	C	G			TCGA-DU-A5TS-01A-11D-A289-08	TCGA-DU-A5TS-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3696edf-3956-4285-bfdc-6f273fe969da	e1fa7dc9-6e6e-4502-a676-cd96ea6ebe59	g.chr17:73498548C>G	ENST00000321617.3	-	18	3193	c.2607G>C	c.(2605-2607)ccG>ccC	p.P869P	CASKIN2_ENST00000433559.2_Silent_p.P787P	NM_020753.3	NP_065804.2	Q8WXE0	CSKI2_HUMAN	CASK interacting protein 2	869	Pro-rich.					cytoplasm				endometrium(1)|kidney(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			ggggcgggggcggggggccTT	0.726													3	3					0	0	1	0	0	G	73498548	C	G	73498548	2	3	132	1	0	0	0	0	0	0	0	1	2685	755	27	5		5	CASKIN2	17	73498548	Silent	SNP	C	TCGA-DU-A5TS-01A-11D-A289-08	33432690	73498548	7696662	39	21728											
DSC1	1823	broad.mit.edu	37	18	28739449	28739449	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-A5TS-01A-11D-A289-08	TCGA-DU-A5TS-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3696edf-3956-4285-bfdc-6f273fe969da	e1fa7dc9-6e6e-4502-a676-cd96ea6ebe59	g.chr18:28739449C>G	ENST00000257197.3	-	2	368	c.107G>C	c.(106-108)cGa>cCa	p.R36P	DSC1_ENST00000257198.5_Missense_Mutation_p.R36P|RP11-408H20.2_ENST00000581836.1_RNA	NM_004948.3	NP_004939.1	Q08554	DSC1_HUMAN	desmocollin 1	36					homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			AGAAGGAACTCGAAGATAAAC	0.338													19	23					0	0	1	0	0	G	28739449	C	G	28739449	3	3	132	1	0	0	0	0	1	0	0	0	4791	884	31	5	2677	5	DSC1	18	28739449	Missense_Mutation	SNP	C	TCGA-DU-A5TS-01A-11D-A289-08		28739449	49337799	40	21729											
SCN1B	6324	broad.mit.edu	37	19	35524708	35524708	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-A5TS-01A-11D-A289-08	TCGA-DU-A5TS-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3696edf-3956-4285-bfdc-6f273fe969da	e1fa7dc9-6e6e-4502-a676-cd96ea6ebe59	g.chr19:35524708G>A	ENST00000415950.3	+	3	513	c.513G>A	c.(511-513)tgG>tgA	p.W171*	SCN1B_ENST00000595652.1_Intron|SCN1B_ENST00000596348.1_Intron|SCN1B_ENST00000262631.5_Intron	NM_199037.3	NP_950238.1	Q07699	SCN1B_HUMAN	sodium channel, voltage-gated, type I, beta subunit	49					axon guidance|synaptic transmission	integral to membrane	voltage-gated sodium channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)	11	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			GGGACAGATGGCAGGCAGTGG	0.647													31	51					0	0	1	0	0	A	35524708	G	A	35524708	4	1	132	1	0	0	0	0	0	1	0	0	13969	1212	42	2	523	2	SCN1B	19	35524708	Nonsense_Mutation	SNP	G	TCGA-DU-A5TS-01A-11D-A289-08		35524708	23604275	41	21730											
NLRP13	126204	broad.mit.edu	37	19	56421928	56421928	+	Splice_Site	SNP	C	C	T			TCGA-DU-A5TS-01A-11D-A289-08	TCGA-DU-A5TS-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3696edf-3956-4285-bfdc-6f273fe969da	e1fa7dc9-6e6e-4502-a676-cd96ea6ebe59	g.chr19:56421928C>T	ENST00000588751.1	-	6	2307		c.e6+1		NLRP13_ENST00000342929.3_Splice_Site			Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13								ATP binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		CTCACACTTACGTCAGTTTCT	0.458													17	40					0	0	1	0	0	T	56421928	C	T	56421928	5	4	132	1	0	0	0	0	0	0	1	0	10522	550	19	1	870	1	NLRP13	19	56421928	Splice_Site	SNP	C	TCGA-DU-A5TS-01A-11D-A289-08	20897220	56421928	2707055	42	21731											
LRRC3	81543	broad.mit.edu	37	21	45876675	45876675	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-A5TS-01A-11D-A289-08	TCGA-DU-A5TS-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3696edf-3956-4285-bfdc-6f273fe969da	e1fa7dc9-6e6e-4502-a676-cd96ea6ebe59	g.chr21:45876675T>C	ENST00000291592.4	+	2	465	c.148T>C	c.(148-150)Tgc>Cgc	p.C50R		NM_030891.3	NP_112153.1	Q9BY71	LRRC3_HUMAN	leucine rich repeat containing 3	50	LRRNT.					integral to membrane	protein binding			endometrium(2)|kidney(1)|lung(1)|urinary_tract(1)	5		Breast(209;0.00908)		COAD - Colon adenocarcinoma(84;0.148)|Lung(125;0.195)		GGCTGTCTTCTGCAGCTTGCG	0.677													25	39					0	0	1	0	0	C	45876675	T	C	45876675	3	2	132	1	0	0	0	0	1	0	0	0	9029	1580	55	3	150	3	LRRC3	21	45876675	Missense_Mutation	SNP	T	TCGA-DU-A5TS-01A-11D-A289-08		45876675	2253220	43	21732											
ATRX	546	broad.mit.edu	37	X	76938084	76938085	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DU-A5TS-01A-11D-A289-08	TCGA-DU-A5TS-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3696edf-3956-4285-bfdc-6f273fe969da	e1fa7dc9-6e6e-4502-a676-cd96ea6ebe59	g.chrX:76938084_76938085insA	ENST00000373344.5	-	9	2877_2878	c.2663_2664insT	c.(2662-2664)ttcfs	p.F888fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Ins_p.F850fs	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	888					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)	CTGCTGAAGAGAAAGTCTCTCT	0.421			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						98	50	---	---	---	---						A	76938085	-	A	76938084	7	5	132	1	0	1	1	0	0	0	0	0	1206	933	33	0	4922	0	ATRX	23	76938084	Frame_Shift_Ins	INS	-	TCGA-DU-A5TS-01A-11D-A289-08		76938084	78332476	44	21733											
PLEKHG5	57449	broad.mit.edu	37	1	6534096	6534096	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chr1:6534096G>A	ENST00000377748.1	-	8	1296	c.799C>T	c.(799-801)Cgc>Tgc	p.R267C	PLEKHG5_ENST00000400913.1_Missense_Mutation_p.R190C|PLEKHG5_ENST00000535355.1_Missense_Mutation_p.R259C|PLEKHG5_ENST00000340850.5_Missense_Mutation_p.R190C|PLEKHG5_ENST00000400915.3_Missense_Mutation_p.R246C|PLEKHG5_ENST00000544978.1_Missense_Mutation_p.R190C|PLEKHG5_ENST00000537245.1_Missense_Mutation_p.R269C|PLEKHG5_ENST00000377740.3_Missense_Mutation_p.R267C|PLEKHG5_ENST00000377732.1_Missense_Mutation_p.R227C|PLEKHG5_ENST00000377725.1_Missense_Mutation_p.R190C|PLEKHG5_ENST00000377728.3_Missense_Mutation_p.R190C|PLEKHG5_ENST00000377737.2_Missense_Mutation_p.R190C	NM_198681.3	NP_941374.2	O94827	PKHG5_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 5	246					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm	Rho guanyl-nucleotide exchange factor activity|signal transducer activity			liver(1)	1	Ovarian(185;0.02)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419)		CTCTCCCGGCGGCTCTGGGCG	0.701													7	21					0	0	1	0	0	A	6534096	G	A	6534096	3	1	133	1	0	0	0	0	1	0	0	0	12121	1116	39	1	2512	1	PLEKHG5	1	6534096	Missense_Mutation	SNP	G	TCGA-DU-A5TT-01A-11D-A289-08		6534096	242716525	1	21734											
IL22RA1	58985	broad.mit.edu	37	1	24463673	24463673	+	Silent	SNP	C	C	T			TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chr1:24463673C>T	ENST00000270800.1	-	3	341	c.303G>A	c.(301-303)gcG>gcA	p.A101A		NM_021258.3	NP_067081.2	Q8N6P7	I22R1_HUMAN	interleukin 22 receptor, alpha 1	101	Fibronectin type-III 1.					integral to membrane	interferon receptor activity			breast(2)|endometrium(2)|large_intestine(4)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000992)|all_lung(284;0.00138)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-24)|Colorectal(126;6.43e-08)|COAD - Colon adenocarcinoma(152;3.51e-06)|GBM - Glioblastoma multiforme(114;5.06e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00911)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.148)		ACCGGCCTCCCGCACTGACAG	0.612													26	52					0	0	1	0	0	T	24463673	C	T	24463673	2	4	133	1	0	0	0	0	0	0	0	1	7717	639	23	1		1	IL22RA1	1	24463673	Silent	SNP	C	TCGA-DU-A5TT-01A-11D-A289-08	17929577	24463673	224786948	2	21735											
PTAFR	5724	broad.mit.edu	37	1	28477144	28477144	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chr1:28477144G>A	ENST00000373857.3	-	2	1023	c.389C>T	c.(388-390)aCc>aTc	p.T130I	PTAFR_ENST00000539896.1_Missense_Mutation_p.T130I|PTAFR_ENST00000305392.3_Missense_Mutation_p.T130I	NM_000952.4|NM_001164722.2|NM_001164723.2	NP_000943.1|NP_001158194.1|NP_001158195.1	P25105	PTAFR_HUMAN	platelet-activating factor receptor	130					chemotaxis|inflammatory response|interferon-gamma-mediated signaling pathway|phosphatidylinositol-mediated signaling	integral to plasma membrane|nucleus	phospholipid binding|platelet activating factor receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|stomach(1)	15		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00715)|all_lung(284;0.00732)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557)		UCEC - Uterine corpus endometrioid carcinoma (279;0.215)|OV - Ovarian serous cystadenocarcinoma(117;6e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|STAD - Stomach adenocarcinoma(196;0.00678)|READ - Rectum adenocarcinoma(331;0.0649)		ACGCTTGCGGGTGTTGGCCTG	0.557													66	73					0	0	1	0	0	A	28477144	G	A	28477144	3	1	133	1	0	0	0	0	1	0	0	0	12772	1261	44	2	643	2	PTAFR	1	28477144	Missense_Mutation	SNP	G	TCGA-DU-A5TT-01A-11D-A289-08	4013471	28477144	220773477	3	21736											
OR10R2	343406	broad.mit.edu	37	1	158449814	158449814	+	Silent	SNP	A	A	G			TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chr1:158449814A>G	ENST00000368152.1	+	1	147	c.147A>G	c.(145-147)gtA>gtG	p.V49V	RP11-144L1.4_ENST00000419738.1_RNA|RP11-144L1.4_ENST00000426251.1_RNA	NM_001004472.1	NP_001004472.1	Q8NGX6	O10R2_HUMAN	olfactory receptor, family 10, subfamily R, member 2	49					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(26)|pancreas(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	41	all_hematologic(112;0.0378)					CCCTCTTTGTAGTTTTTCTTT	0.448													46	43					0	0	1	0	0	G	158449814	A	G	158449814	2	3	133	1	0	0	0	0	0	0	0	1	10965	407	15	3		3	OR10R2	1	158449814	Silent	SNP	A	TCGA-DU-A5TT-01A-11D-A289-08	129972670	158449814	90800807	4	21737											
FAM129A	116496	broad.mit.edu	37	1	184764460	184764460	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chr1:184764460C>T	ENST00000367511.3	-	14	2631	c.2438G>A	c.(2437-2439)gGg>gAg	p.G813E	FAM129A_ENST00000487074.1_5'UTR	NM_052966.2	NP_443198.1	Q9BZQ8	NIBAN_HUMAN	family with sequence similarity 129, member A	813	Glu-rich.				negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						TGGGAGCTCCCCCTCCATGGG	0.657													31	131					0	0	1	0	0	T	184764460	C	T	184764460	3	4	133	1	0	0	0	0	1	0	0	0	5467	623	22	2	352	2	FAM129A	1	184764460	Missense_Mutation	SNP	C	TCGA-DU-A5TT-01A-11D-A289-08	26314646	184764460	64486161	5	21738											
NFASC	23114	broad.mit.edu	37	1	204946828	204946828	+	Silent	SNP	T	T	A			TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chr1:204946828T>A	ENST00000367172.4	+	17	2179	c.1851T>A	c.(1849-1851)acT>acA	p.T617T	NFASC_ENST00000367171.4_Intron|NFASC_ENST00000360049.4_Intron|NFASC_ENST00000539706.1_Intron|NFASC_ENST00000367169.4_Silent_p.T617T|NFASC_ENST00000513543.1_Intron|NFASC_ENST00000338515.6_Silent_p.T617T|NFASC_ENST00000401399.1_Silent_p.T617T|NFASC_ENST00000404076.1_Intron|NFASC_ENST00000367170.4_Silent_p.T617T|NFASC_ENST00000404907.1_Intron|NFASC_ENST00000338586.6_Silent_p.T617T|NFASC_ENST00000339876.6_Silent_p.T617T			O94856	NFASC_HUMAN	neurofascin	617					axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			CCACTCCAACTAACCGTTTGG	0.547													17	28					0	0	1	0	0	A	204946828	T	A	204946828	2	1	133	1	0	0	0	0	0	0	0	1	10406	1509	53	5		5	NFASC	1	204946828	Silent	SNP	T	TCGA-DU-A5TT-01A-11D-A289-08	20182368	204946828	44303793	6	21739											
TRAF3IP3	80342	broad.mit.edu	37	1	209952737	209952737	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chr1:209952737C>T	ENST00000367023.1	+	7	801	c.538C>T	c.(538-540)Cac>Tac	p.H180Y	TRAF3IP3_ENST00000400959.3_Intron|TRAF3IP3_ENST00000367024.1_Intron|TRAF3IP3_ENST00000367025.3_Intron|TRAF3IP3_ENST00000477431.1_Intron|TRAF3IP3_ENST00000367026.3_Intron|TRAF3IP3_ENST00000010338.4_Intron			Q9Y228	T3JAM_HUMAN	TRAF3 interacting protein 3	0						integral to membrane	protein binding			breast(2)|endometrium(1)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32				OV - Ovarian serous cystadenocarcinoma(81;0.045)		AATTTATTACCACAAATTCTA	0.423													15	15					0	0	1	0	0	T	209952737	C	T	209952737	3	4	133	1	0	0	0	0	1	0	0	0	16503	609	21	2		2	TRAF3IP3	1	209952737	Missense_Mutation	SNP	C	TCGA-DU-A5TT-01A-11D-A289-08	5005909	209952737	39297884	7	21740											
DHX30	22907	broad.mit.edu	37	3	47891524	47891524	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chr3:47891524G>C	ENST00000446256.2	+	23	3954	c.3382G>C	c.(3382-3384)Gag>Cag	p.E1128Q	DHX30_ENST00000348968.4_Missense_Mutation_p.E1139Q|DHX30_ENST00000445061.1_Missense_Mutation_p.E1167Q|DHX30_ENST00000457607.1_Missense_Mutation_p.E1195Q	NM_014966.3	NP_055781.2	Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 30	1167						mitochondrial nucleoid	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		CGTACAGGAGGAGCACGGGCA	0.672											OREG0015550	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	9					0	0	1	0	0	C	47891524	G	C	47891524	3	2	133	1	0	0	0	0	1	0	0	0	4532	1175	41	5	3588	5	DHX30	3	47891524	Missense_Mutation	SNP	G	TCGA-DU-A5TT-01A-11D-A289-08		47891524	150130906	8	21741											
IFRD2	7866	broad.mit.edu	37	3	50327154	50327154	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chr3:50327154C>T	ENST00000436390.1	-	9	1083	c.586G>A	c.(586-588)Gct>Act	p.A196T	IFRD2_ENST00000417626.2_Missense_Mutation_p.A196T|IFRD2_ENST00000429673.2_Missense_Mutation_p.A260T|IFRD2_ENST00000336089.4_Missense_Mutation_p.A362T			Q12894	IFRD2_HUMAN	interferon-related developmental regulator 2	260							binding			breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	14				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		TGGATGTCAGCGGCAGCCACG	0.617													4	4					0	0	1	0	0	T	50327154	C	T	50327154	3	4	133	1	0	0	0	0	1	0	0	0	7598	768	27	1	770	1	IFRD2	3	50327154	Missense_Mutation	SNP	C	TCGA-DU-A5TT-01A-11D-A289-08	2435630	50327154	147695276	9	21742											
KCNAB1	7881	broad.mit.edu	37	3	155838415	155838415	+	Silent	SNP	G	G	T			TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chr3:155838415G>T	ENST00000490337.1	+	1	79	c.15G>T	c.(13-15)cgG>cgT	p.R5R	KCNAB1_ENST00000389636.5_Silent_p.R5R	NM_172160.2	NP_751892.1	Q14722	KCAB1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, beta member 1	5						cytoplasm|integral to membrane	oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			TGGCAGCCCGGACAGGGGCAG	0.502													46	117					4.37618e-36	5.17848e-36	1	1	0	T	155838415	G	T	155838415	2	4	133	1	0	0	0	0	0	0	0	1	8053	1161	41	5		5	KCNAB1	3	155838415	Silent	SNP	G	TCGA-DU-A5TT-01A-11D-A289-08	105511261	155838415	42184015	10	21743											
PIK3CA	5290	broad.mit.edu	37	3	178916944	178916944	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chr3:178916944A>G	ENST00000263967.3	+	2	488	c.331A>G	c.(331-333)Aag>Gag	p.K111E		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	111					epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.K111E(13)|p.K111_L113delKIL(2)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			CCGTGAAGAAAAGATCCTCAA	0.333		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			17	42					0	0	1	0	0	G	178916944	A	G	178916944	3	3	133	1	0	0	0	0	1	0	0	0	11961	15	1	3	333	3	PIK3CA	3	178916944	Missense_Mutation	SNP	A	TCGA-DU-A5TT-01A-11D-A289-08	23078529	178916944	19105486	11	21744											
PIK3CA	5290	broad.mit.edu	37	3	178936094	178936094	+	Missense_Mutation	SNP	C	C	G	rs121913286		TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chr3:178936094C>G	ENST00000263967.3	+	10	1793	c.1636C>G	c.(1636-1638)Cag>Gag	p.Q546E		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	546	PI3K helical.		Q -> E (in cancer).|Q -> K (in cancer).|Q -> P (in cancer).|Q -> R (in cancer).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.Q546K(89)|p.Q546E(12)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			AATCACTGAGCAGGAGAAAGA	0.358		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			4	21					0	0	1	0	0	G	178936094	C	G	178936094	3	3	133	1	0	0	0	0	1	0	0	0	11961	711	25	5	1670	5	PIK3CA	3	178936094	Missense_Mutation	SNP	C	TCGA-DU-A5TT-01A-11D-A289-08	19150	178936094	19086336	12	21745											
LIMCH1	22998	broad.mit.edu	37	4	41682066	41682066	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chr4:41682066A>G	ENST00000313860.7	+	19	2465	c.2411A>G	c.(2410-2412)gAa>gGa	p.E804G	LIMCH1_ENST00000509277.1_Missense_Mutation_p.E637G|LIMCH1_ENST00000513024.1_Missense_Mutation_p.E657G|LIMCH1_ENST00000381753.4_Missense_Mutation_p.E637G|LIMCH1_ENST00000503057.1_Missense_Mutation_p.E1188G|LIMCH1_ENST00000508501.1_Missense_Mutation_p.E803G|LIMCH1_ENST00000396595.3_Missense_Mutation_p.E649G|LIMCH1_ENST00000511496.1_Missense_Mutation_p.E644G|LIMCH1_ENST00000512946.1_Missense_Mutation_p.E804G|LIMCH1_ENST00000512820.1_Missense_Mutation_p.E816G|LIMCH1_ENST00000514096.1_Missense_Mutation_p.E644G|LIMCH1_ENST00000512632.1_Missense_Mutation_p.E727G	NM_014988.2	NP_055803.2	Q9UPQ0	LIMC1_HUMAN	LIM and calponin homology domains 1	804	Glu-rich.				actomyosin structure organization		actin binding|zinc ion binding			central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						GAAGAGTGGGAAAAGGCCCAA	0.448													8	21					0	0	1	0	0	G	41682066	A	G	41682066	3	3	133	1	0	0	0	0	1	0	0	0	8837	246	9	3	2513	3	LIMCH1	4	41682066	Missense_Mutation	SNP	A	TCGA-DU-A5TT-01A-11D-A289-08		41682066	149472210	13	21746											
UGT2B10	7365	broad.mit.edu	37	4	69688108	69688108	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chr4:69688108G>T	ENST00000265403.7	+	3	1014	c.987G>T	c.(985-987)aaG>aaT	p.K329N	UGT2B10_ENST00000458688.2_Missense_Mutation_p.K245N	NM_001075.4	NP_001066.1	P36537	UDB10_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B10	329					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						CCCTTGCCAAGATCCCACAAA	0.413													38	127					9.14704e-12	1.03086e-11	1	1	0	T	69688108	G	T	69688108	3	4	133	1	0	0	0	0	1	0	0	0	17016	933	33	4	997	4	UGT2B10	4	69688108	Missense_Mutation	SNP	G	TCGA-DU-A5TT-01A-11D-A289-08	28006042	69688108	121466168	14	21747											
TLR2	7097	broad.mit.edu	37	4	154625007	154625007	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chr4:154625007G>T	ENST00000260010.6	+	1	2356	c.948G>T	c.(946-948)agG>agT	p.R316S		NM_003264.3	NP_003255.2	O60603	TLR2_HUMAN	toll-like receptor 2	316					cellular response to diacyl bacterial lipopeptide|cellular response to lipoteichoic acid|cellular response to triacyl bacterial lipopeptide|detection of diacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|I-kappaB phosphorylation|induction of apoptosis|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of interferon-beta production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of Wnt receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytoplasm|integral to plasma membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex	Gram-positive bacterial cell surface binding|lipopolysaccharide receptor activity|peptidoglycan binding|protein heterodimerization activity|transmembrane receptor activity|triacyl lipopeptide binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	29	all_hematologic(180;0.093)	Renal(120;0.117)				CAATCCGGAGGCTGCATATTC	0.338													14	53					2.31682e-05	2.49234e-05	1	1	0	T	154625007	G	T	154625007	3	4	133	1	0	0	0	0	1	0	0	0	16011	1194	42	5	950	5	TLR2	4	154625007	Missense_Mutation	SNP	G	TCGA-DU-A5TT-01A-11D-A289-08	84936899	154625007	36529269	15	21748											
CETN3	1070	broad.mit.edu	37	5	89701540	89701540	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chr5:89701540G>T	ENST00000283122.3	-	3	354	c.230C>A	c.(229-231)gCc>gAc	p.A77D	CETN3_ENST00000522864.1_Missense_Mutation_p.A77D|CETN3_ENST00000522842.1_Missense_Mutation_p.A77D|CETN3_ENST00000522565.1_Missense_Mutation_p.A77D|CETN3_ENST00000522083.1_Missense_Mutation_p.A77D	NM_004365.2	NP_004356.2	O15182	CETN3_HUMAN	centrin, EF-hand protein, 3	77	EF-hand 2.				cell division|centrosome cycle|mitosis	centriole	calcium ion binding			lung(3)	3		all_cancers(142;7.93e-09)|all_epithelial(76;2.13e-11)|Lung NSC(167;2.46e-05)|all_lung(232;3.25e-05)|Ovarian(174;0.00832)|Colorectal(57;0.122)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(54;1.42e-32)|Epithelial(54;1.45e-26)|all cancers(79;2.87e-23)		TTTCCCTGTGGCTTCTCTGTC	0.343													12	26					6.40141e-05	6.78358e-05	1	1	0	T	89701540	G	T	89701540	3	4	133	1	0	0	0	0	1	0	0	0	3298	1203	42	5	285	5	CETN3	5	89701540	Missense_Mutation	SNP	G	TCGA-DU-A5TT-01A-11D-A289-08		89701540	91213720	16	21749											
KCTD16	57528	broad.mit.edu	37	5	143586601	143586601	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chr5:143586601G>T	ENST00000507359.3	+	2	1415	c.324G>T	c.(322-324)agG>agT	p.R108S	KCTD16_ENST00000512467.1_Missense_Mutation_p.R108S	NM_020768.3	NP_065819.1	Q68DU8	KCD16_HUMAN	potassium channel tetramerization domain containing 16							cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity			large_intestine(5)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	21		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)			GACTGAAAAGGGAAGCTGAAT	0.468													31	35					2.70662e-09	3.00266e-09	1	1	0	T	143586601	G	T	143586601	3	4	133	1	0	0	0	0	1	0	0	0	8147	1223	43	5	326	5	KCTD16	5	143586601	Missense_Mutation	SNP	G	TCGA-DU-A5TT-01A-11D-A289-08	53885061	143586601	37328659	17	21750											
ABCC10	89845	broad.mit.edu	37	6	43403588	43403588	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chr6:43403588C>T	ENST00000244533.3	+	3	1938	c.1579C>T	c.(1579-1581)Cgg>Tgg	p.R527W	ABCC10_ENST00000372530.4_Missense_Mutation_p.R570W	NM_033450.2	NP_258261.2	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	570	ABC transmembrane type-1 1.					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			GTCCTTGGACCGGATCCAGCT	0.567													24	57					0	0	1	0	0	T	43403588	C	T	43403588	3	4	133	1	0	0	0	0	1	0	0	0	50	643	23	1	1589	1	ABCC10	6	43403588	Missense_Mutation	SNP	C	TCGA-DU-A5TT-01A-11D-A289-08		43403588	127711479	18	21751											
MCHR2	84539	broad.mit.edu	37	6	100390944	100390944	+	Silent	SNP	G	G	A			TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chr6:100390944G>A	ENST00000281806.2	-	4	782	c.468C>T	c.(466-468)ggC>ggT	p.G156G	MCHR2_ENST00000369212.2_Silent_p.G156G	NM_001040179.1	NP_001035269.1	Q969V1	MCHR2_HUMAN	melanin-concentrating hormone receptor 2	156						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	39		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)		BRCA - Breast invasive adenocarcinoma(108;0.0429)		CTGCCCAAAGGCCCAAATTGA	0.468													38	78					0	0	1	0	0	A	100390944	G	A	100390944	2	1	133	1	0	0	0	0	0	0	0	1	9433	1190	42	2		2	MCHR2	6	100390944	Silent	SNP	G	TCGA-DU-A5TT-01A-11D-A289-08	56987356	100390944	70724123	19	21752											
EPB41L2	2037	broad.mit.edu	37	6	131188677	131188677	+	Silent	SNP	T	T	C	rs145251245		TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chr6:131188677T>C	ENST00000337057.3	-	16	2833	c.2652A>G	c.(2650-2652)tcA>tcG	p.S884S	EPB41L2_ENST00000524581.1_Silent_p.S262S|EPB41L2_ENST00000530481.1_Silent_p.S731S|EPB41L2_ENST00000527411.1_Silent_p.S814S|EPB41L2_ENST00000368128.2_Silent_p.S884S|EPB41L2_ENST00000528282.1_Silent_p.S626S|EPB41L2_ENST00000445890.2_Silent_p.S626S|EPB41L2_ENST00000527659.1_Intron|EPB41L2_ENST00000525193.1_Intron|EPB41L2_ENST00000529208.1_Silent_p.S814S|EPB41L2_ENST00000531410.1_Intron|EPB41L2_ENST00000392427.3_Intron|EPB41L2_ENST00000530757.1_Silent_p.S113S|EPB41L2_ENST00000525271.1_Intron	NM_001431.3	NP_001422.1	O43491	E41L2_HUMAN	erythrocyte membrane protein band 4.1-like 2	884	Carboxyl-terminal (CTD).				cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		CTGTCCTTTGTGAGGCATCAG	0.408													5	65					0	0	1	0	0	C	131188677	T	C	131188677	2	2	133	1	0	0	0	0	0	0	0	1	5181	1683	59	3		3	EPB41L2	6	131188677	Silent	SNP	T	TCGA-DU-A5TT-01A-11D-A289-08	30797733	131188677	39926390	20	21753											
SDK1	221935	broad.mit.edu	37	7	4188979	4188979	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chr7:4188979C>A	ENST00000404826.2	+	30	4648	c.4509C>A	c.(4507-4509)agC>agA	p.S1503R	SDK1_ENST00000389531.3_Missense_Mutation_p.S1503R	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1503	Fibronectin type-III 9.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		TCCCGGGCAGCGACGGGGCCT	0.677													3	40					0.115264	0.116911	1	1	0	A	4188979	C	A	4188979	3	1	133	1	0	0	0	0	1	0	0	0	14022	767	27	5	4627	5	SDK1	7	4188979	Missense_Mutation	SNP	C	TCGA-DU-A5TT-01A-11D-A289-08		4188979	154949684	21	21754											
EGFR	1956	broad.mit.edu	37	7	55221822	55221822	+	Missense_Mutation	SNP	C	C	T	rs149840192		TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chr7:55221822C>T	ENST00000275493.2	+	7	1043	c.866C>T	c.(865-867)gCc>gTc	p.A289V	EGFR_ENST00000344576.2_Missense_Mutation_p.A289V|EGFR_ENST00000454757.2_Missense_Mutation_p.A236V|EGFR_ENST00000420316.2_Missense_Mutation_p.A289V|EGFR_ENST00000455089.1_Missense_Mutation_p.A244V|EGFR_ENST00000442591.1_Missense_Mutation_p.A289V|EGFR_ENST00000342916.3_Missense_Mutation_p.A289V	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	289					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.A289V(20)|p.A289D(3)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	AGCTTTGGTGCCACCTGCGTG	0.592		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			59	68					0	0	1	0	0	T	55221822	C	T	55221822	3	4	133	1	0	0	0	0	1	0	0	0	4993	739	26	2	892	2	EGFR	7	55221822	Missense_Mutation	SNP	C	TCGA-DU-A5TT-01A-11D-A289-08	51032843	55221822	103916841	22	21755											
REPIN1	29803	broad.mit.edu	37	7	150069850	150069850	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chr7:150069850G>T	ENST00000397281.2	+	4	2009	c.1520G>T	c.(1519-1521)cGc>cTc	p.R507L	REPIN1_ENST00000540729.1_Missense_Mutation_p.R507L|REPIN1_ENST00000489432.2_Missense_Mutation_p.R564L|REPIN1_ENST00000444957.1_Missense_Mutation_p.R507L|REPIN1_ENST00000479668.1_3'UTR|REPIN1_ENST00000425389.2_Missense_Mutation_p.R507L	NM_013400.3	NP_037532.2	Q9BWE0	REPI1_HUMAN	replication initiator 1	507					DNA replication	nuclear origin of replication recognition complex	DNA binding|zinc ion binding			cervix(2)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	14	Ovarian(565;0.183)|Melanoma(164;0.226)		OV - Ovarian serous cystadenocarcinoma(82;0.011)			TCGCACCGGCGCATCCACACG	0.677													29	110					4.87955e-14	5.58788e-14	1	1	0	T	150069850	G	T	150069850	3	4	133	1	0	0	0	0	1	0	0	0	13279	1087	38	5	1697	5	REPIN1	7	150069850	Missense_Mutation	SNP	G	TCGA-DU-A5TT-01A-11D-A289-08	94848028	150069850	9068813	23	21756											
DOCK5	80005	broad.mit.edu	37	8	25253106	25253108	+	In_Frame_Del	DEL	CAA	CAA	-			TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chr8:25253106_25253108delCAA	ENST00000276440.7	+	45	4619_4621	c.4575_4577delCAA	c.(4573-4578)accaac>acc	p.N1526del		NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	1526	DHR-2.					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		TGGAGCTGACCAACGAGAGGATC	0.562													8	107	---	---	---	---						-	25253108	CAA	-	25253106	7	5	133	1	0	1	0	1	0	0	0	0	4717	581	21	0	4753	0	DOCK5	8	25253106	In_Frame_Del	DEL	CAA	TCGA-DU-A5TT-01A-11D-A289-08		25253106	121110916	24	21757											
MAPK15	225689	broad.mit.edu	37	8	144800905	144800906	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chr8:144800905_144800906delAG	ENST00000395107.4	+	5	298_299	c.298_299delAG	c.(298-300)agcfs	p.S100fs	MAPK15_ENST00000395108.2_Intron|RP11-429J17.5_ENST00000527908.1_RNA|MAPK15_ENST00000338033.4_Intron			Q8TD08	MK15_HUMAN	mitogen-activated protein kinase 15	95	Protein kinase.				protein autophosphorylation	extracellular region	ATP binding|MAP kinase activity|SH3 domain binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|stomach(1)	12	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			TTGCCCCCCCAGCCCCCCACCC	0.698													2	4	---	---	---	---						-	144800906	AG	-	144800905	7	5	133	1	0	1	0	1	0	0	0	0	9327	203	7	0		0	MAPK15	8	144800905	Frame_Shift_Del	DEL	AG	TCGA-DU-A5TT-01A-11D-A289-08	119547799	144800905	1563117	25	21758											
CREB3	10488	broad.mit.edu	37	9	35733420	35733422	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chr9:35733420_35733422delGAG	ENST00000353704.2	+	4	811_813	c.373_375delGAG	c.(373-375)gagdel	p.E126del	CREB3_ENST00000486056.1_3'UTR	NM_006368.4	NP_006359.3	O43889	CREB3_HUMAN	cAMP responsive element binding protein 3	150					chemotaxis|induction of positive chemotaxis|interspecies interaction between organisms|negative regulation of cell cycle|positive regulation of calcium ion transport|positive regulation of cell migration|positive regulation of transcription, DNA-dependent|reactivation of latent virus|regulation of cell proliferation	cytosol|endoplasmic reticulum|endoplasmic reticulum membrane|Golgi apparatus|integral to membrane|nucleus	cAMP response element binding protein binding|CCR1 chemokine receptor binding|DNA binding|protein dimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity	p.E125delE(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|urinary_tract(1)	9	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)	GBM - Glioblastoma multiforme(74;0.0285)		ACTGACAGATGAGGAGAAGAGTC	0.493													13	23	---	---	---	---						-	35733422	GAG	-	35733420	7	5	133	1	0	1	0	1	0	0	0	0	3878	1291	45	0	387	0	CREB3	9	35733420	In_Frame_Del	DEL	GAG	TCGA-DU-A5TT-01A-11D-A289-08		35733420	105480011	26	21759											
OR13C8	138802	broad.mit.edu	37	9	107331778	107331778	+	Silent	SNP	G	G	A			TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chr9:107331778G>A	ENST00000335040.1	+	1	330	c.330G>A	c.(328-330)acG>acA	p.T110T		NM_001004483.1	NP_001004483.1	Q8NGS7	O13C8_HUMAN	olfactory receptor, family 13, subfamily C, member 8	110					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1)	25						TGGGGGCCACGGAGTGCATGA	0.502													27	57					0	0	1	0	0	A	107331778	G	A	107331778	2	1	133	1	0	0	0	0	0	0	0	1	10986	1103	39	1		1	OR13C8	9	107331778	Silent	SNP	G	TCGA-DU-A5TT-01A-11D-A289-08	71598358	107331778	33881653	27	21760											
SOHLH1	402381	broad.mit.edu	37	9	138590205	138590205	+	Silent	SNP	G	G	A	rs145506287	byFrequency	TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chr9:138590205G>A	ENST00000298466.5	-	3	375	c.315C>T	c.(313-315)agC>agT	p.S105S	SOHLH1_ENST00000425225.1_Silent_p.S105S	NM_001012415.2	NP_001012415	Q5JUK2	SOLH1_HUMAN	spermatogenesis and oogenesis specific basic helix-loop-helix 1	105	Helix-loop-helix motif.				cell differentiation|multicellular organismal development|oogenesis|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(5)|prostate(1)	12		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.66e-07)|Epithelial(140;1.11e-06)|all cancers(34;6.45e-05)		GCCCCAGGGCGCTGGCAAGCC	0.657													92	89					0	0	1	0	0	A	138590205	G	A	138590205	2	1	133	1	0	0	0	0	0	0	0	1	14977	1078	38	1		1	SOHLH1	9	138590205	Silent	SNP	G	TCGA-DU-A5TT-01A-11D-A289-08	31258427	138590205	2623226	28	21761											
AKR1C1	1645	broad.mit.edu	37	10	5008161	5008161	+	Missense_Mutation	SNP	G	G	A	rs1138575		TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chr10:5008161G>A	ENST00000380872.4	+	2	332	c.140G>A	c.(139-141)cGc>cAc	p.R47H	AKR1C1_ENST00000380859.1_Missense_Mutation_p.R49H|AKR1C1_ENST00000477661.1_3'UTR|AKR1C1_ENST00000434459.2_Missense_Mutation_p.R47H	NM_001353.5	NP_001344.2			aldo-keto reductase family 1, member C1											breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(2)|ovary(3)|prostate(1)	13						GCTGGCTTCCGCCATATTGAT	0.438													21	48					0	0	1	0	0	A	5008161	G	A	5008161	3	1	133	1	0	0	0	0	1	0	0	0	466	1087	38	1	146	1	AKR1C1	10	5008161	Missense_Mutation	SNP	G	TCGA-DU-A5TT-01A-11D-A289-08		5008161	130526586	29	21762											
SIGIRR	59307	broad.mit.edu	37	11	406533	406533	+	Silent	SNP	A	A	G			TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chr11:406533A>G	ENST00000431843.2	-	9	1191	c.885T>C	c.(883-885)ccT>ccC	p.P295P	SIGIRR_ENST00000531205.1_Silent_p.P295P|SIGIRR_ENST00000332725.3_Silent_p.P295P|SIGIRR_ENST00000397632.3_Silent_p.P295P|SIGIRR_ENST00000382520.2_Silent_p.P295P	NM_001135054.1	NP_001128526.1	Q6IA17	SIGIR_HUMAN	single immunoglobulin and toll-interleukin 1 receptor (TIR) domain	295	TIR.				acute-phase response|innate immune response|negative regulation of chemokine biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of lipopolysaccharide-mediated signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity	integral to membrane	protein binding|transmembrane receptor activity			cervix(2)|endometrium(1)|liver(1)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	13		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		AATCGGAGGAAGGAGTCTGGG	0.652													38	64					0	0	1	0	0	G	406533	A	G	406533	2	3	133	1	0	0	0	0	0	0	0	1	14359	59	3	3		3	SIGIRR	11	406533	Silent	SNP	A	TCGA-DU-A5TT-01A-11D-A289-08		406533	134599983	30	21763											
USH1C	10083	broad.mit.edu	37	11	17531092	17531092	+	Silent	SNP	C	C	T			TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chr11:17531092C>T	ENST00000005226.7	-	18	1823	c.1824G>A	c.(1822-1824)ccG>ccA	p.P608P	USH1C_ENST00000318024.4_Intron|USH1C_ENST00000527720.1_Intron|USH1C_ENST00000529563.1_Intron|USH1C_ENST00000527020.1_Intron	NM_153676.3	NP_710142.1	Q9Y6N9	USH1C_HUMAN	Usher syndrome 1C (autosomal recessive, severe)	0					equilibrioception|G2/M transition of mitotic cell cycle|photoreceptor cell maintenance|sensory perception of sound	apical part of cell|cytoplasm|stereocilium	protein binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						GAACGGATGGCGGGGGAGGGA	0.662													12	20					0	0	1	0	0	T	17531092	C	T	17531092	2	4	133	1	0	0	0	0	0	0	0	1	17094	755	27	1		1	USH1C	11	17531092	Silent	SNP	C	TCGA-DU-A5TT-01A-11D-A289-08	17124559	17531092	117475424	31	21764											
CD163L1	283316	broad.mit.edu	37	12	7586119	7586119	+	Missense_Mutation	SNP	C	C	T	rs146684411	byFrequency	TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chr12:7586119C>T	ENST00000313599.3	-	3	353	c.296G>A	c.(295-297)cGt>cAt	p.R99H	CD163L1_ENST00000416109.2_Missense_Mutation_p.R99H|CD163L1_ENST00000396630.1_Missense_Mutation_p.R99H			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	99	SRCR 1.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity	p.R99H(1)		breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						TTGTCCAAAACGAAACATGGC	0.478													13	65					0	0	1	0	0	T	7586119	C	T	7586119	3	4	133	1	0	0	0	0	1	0	0	0	2990	536	19	1	4133	1	CD163L1	12	7586119	Missense_Mutation	SNP	C	TCGA-DU-A5TT-01A-11D-A289-08		7586119	126265776	32	21765											
CLEC9A	283420	broad.mit.edu	37	12	10205329	10205329	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chr12:10205329C>T	ENST00000355819.1	+	4	656	c.43C>T	c.(43-45)Cca>Tca	p.P15S	CLEC9A_ENST00000544751.1_3'UTR	NM_207345.2	NP_997228.1	Q6UXN8	CLC9A_HUMAN	C-type lectin domain family 9, member A	15					positive regulation of cytokine secretion|receptor-mediated endocytosis	cell surface|integral to membrane	receptor activity|sugar binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	22						GTGGGATAGCCCAGCACCAGA	0.418													11	49					0	0	1	0	0	T	10205329	C	T	10205329	3	4	133	1	0	0	0	0	1	0	0	0	3545	623	22	2	45	2	CLEC9A	12	10205329	Missense_Mutation	SNP	C	TCGA-DU-A5TT-01A-11D-A289-08	2619210	10205329	123646566	33	21766											
PDZRN4	29951	broad.mit.edu	37	12	41900316	41900316	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chr12:41900316A>G	ENST00000298919.7	+	4	510	c.122A>G	c.(121-123)aAt>aGt	p.N41S	PDZRN4_ENST00000539469.2_Missense_Mutation_p.N43S|PDZRN4_ENST00000402685.2_Missense_Mutation_p.N301S			Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	301							ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				GCTTTTCGCAATGCCAAGGAG	0.473													10	48					0	0	1	0	0	G	41900316	A	G	41900316	3	3	133	1	0	0	0	0	1	0	0	0	11757	101	4	3	989	3	PDZRN4	12	41900316	Missense_Mutation	SNP	A	TCGA-DU-A5TT-01A-11D-A289-08	31694987	41900316	91951579	34	21767											
PDZRN4	29951	broad.mit.edu	37	12	41900459	41900459	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chr12:41900459C>G	ENST00000298919.7	+	4	653	c.265C>G	c.(265-267)Ctt>Gtt	p.L89V	PDZRN4_ENST00000539469.2_Missense_Mutation_p.L91V|PDZRN4_ENST00000402685.2_Missense_Mutation_p.L349V			Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	349							ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				TCTGGCCAAGCTTCGTCCACC	0.488													11	61					0	0	1	0	0	G	41900459	C	G	41900459	3	3	133	1	0	0	0	0	1	0	0	0	11757	797	28	4	1132	4	PDZRN4	12	41900459	Missense_Mutation	SNP	C	TCGA-DU-A5TT-01A-11D-A289-08	143	41900459	91951436	35	21768											
BBS10	79738	broad.mit.edu	37	12	76741233	76741233	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chr12:76741233A>T	ENST00000393262.3	-	2	615	c.532T>A	c.(532-534)Ttt>Att	p.F178I		NM_024685.3	NP_078961.3	Q8TAM1	BBS10_HUMAN	Bardet-Biedl syndrome 10	178					cellular protein metabolic process|nonmotile primary cilium assembly|photoreceptor cell maintenance|response to stimulus|retina homeostasis	cilium	ATP binding			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)	19						CTTCCACAAAAGTATGCTTCT	0.353									Bardet-Biedl syndrome				9	28					0	0	1	0	0	T	76741233	A	T	76741233	3	4	133	1	0	0	0	0	1	0	0	0	1334	72	3	5	1643	5	BBS10	12	76741233	Missense_Mutation	SNP	A	TCGA-DU-A5TT-01A-11D-A289-08	34840774	76741233	57110662	36	21769											
NAV3	89795	broad.mit.edu	37	12	78444669	78444669	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chr12:78444669C>T	ENST00000397909.2	+	11	2431	c.2258C>T	c.(2257-2259)gCg>gTg	p.A753V	NAV3_ENST00000266692.7_Missense_Mutation_p.A753V|NAV3_ENST00000228327.6_Missense_Mutation_p.A753V|NAV3_ENST00000536525.2_Missense_Mutation_p.A753V			Q8IVL0	NAV3_HUMAN	neuron navigator 3	753						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						CGACTTCAGGCGGGAGATGCT	0.572										HNSCC(70;0.22)			24	32					0	0	1	0	0	T	78444669	C	T	78444669	3	4	133	1	0	0	0	0	1	0	0	0	10233	768	27	1	2300	1	NAV3	12	78444669	Missense_Mutation	SNP	C	TCGA-DU-A5TT-01A-11D-A289-08	1703436	78444669	55407226	37	21770											
MGAT4C	25834	broad.mit.edu	37	12	86374058	86374058	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chr12:86374058C>T	ENST00000604798.1	-	8	1650	c.446G>A	c.(445-447)cGt>cAt	p.R149H	MGAT4C_ENST00000552435.2_Intron|MGAT4C_ENST00000548651.1_Missense_Mutation_p.R149H|MGAT4C_ENST00000549405.2_Missense_Mutation_p.R149H|MGAT4C_ENST00000332156.1_Missense_Mutation_p.R149H|MGAT4C_ENST00000393205.2_Missense_Mutation_p.R178H|MGAT4C_ENST00000552808.2_Missense_Mutation_p.R149H			Q9UBM8	MGT4C_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative)	149					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding	p.R149H(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						CATGGCATCACGCCAGGAAGA	0.398													24	71					0	0	1	0	0	T	86374058	C	T	86374058	3	4	133	1	0	0	0	0	1	0	0	0	9597	536	19	1	994	1	MGAT4C	12	86374058	Missense_Mutation	SNP	C	TCGA-DU-A5TT-01A-11D-A289-08	7929389	86374058	47477837	38	21771											
MIA2	117153	broad.mit.edu	37	14	39722040	39722040	+	Silent	SNP	G	G	A			TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chr14:39722040G>A	ENST00000280082.3	+	5	1855	c.1656G>A	c.(1654-1656)tcG>tcA	p.S552S	RP11-407N17.3_ENST00000553728.1_Intron	NM_054024.3	NP_473365.3	Q96PC5	MIA2_HUMAN	melanoma inhibitory activity 2	161						extracellular region				NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	31	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0216)		ATGAAAATTCGAAACCATCAG	0.378													8	32					0	0	1	0	0	A	39722040	G	A	39722040	2	1	133	1	0	0	0	0	0	0	0	1	9613	1045	37	1		1	MIA2	14	39722040	Silent	SNP	G	TCGA-DU-A5TT-01A-11D-A289-08		39722040	67627500	39	21772											
SNURF	8926	broad.mit.edu	37	15	25213099	25213099	+	Missense_Mutation	SNP	G	G	A	rs142583293		TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chr15:25213099G>A	ENST00000338094.6	+	3	192	c.131G>A	c.(130-132)cGt>cAt	p.R44H	SNRPN_ENST00000577565.1_5'UTR|SNURF_ENST00000577949.1_Missense_Mutation_p.R44H|SNRPN_ENST00000554227.2_5'UTR|SNRPN_ENST00000390687.4_5'UTR|SNRPN_ENST00000400100.1_5'UTR|SNURF_ENST00000551312.2_Missense_Mutation_p.R44H|SNRPN_ENST00000400098.1_5'UTR|SNURF_ENST00000338327.4_Missense_Mutation_p.R44H|SNRPN_ENST00000346403.6_5'UTR|SNRPN_ENST00000553597.1_3'UTR|SNRPN_ENST00000400097.1_5'UTR	NM_003097.3|NM_005678.3	NP_003088.1|NP_005669.2			SNRPN upstream reading frame											breast(2)|large_intestine(2)|lung(1)	5		all_cancers(20;1.4e-21)|Breast(32;0.000625)		all cancers(64;3.48e-07)|Epithelial(43;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0142)		TACCCGAGGCGTTCTCAGCAG	0.413													32	67					0	0	1	0	0	A	25213099	G	A	25213099	3	1	133	1	0	0	0	0	1	0	0	0	14932	1145	40	1	141	1	SNURF	15	25213099	Missense_Mutation	SNP	G	TCGA-DU-A5TT-01A-11D-A289-08		25213099	77318293	40	21773											
MAN2C1	4123	broad.mit.edu	37	15	75655059	75655059	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chr15:75655059C>T	ENST00000565683.1	-	7	832	c.821G>A	c.(820-822)aGg>aAg	p.R274K	MAN2C1_ENST00000563622.1_Intron|MAN2C1_ENST00000569482.1_Missense_Mutation_p.R274K|MAN2C1_ENST00000563539.1_5'UTR|MAN2C1_ENST00000267978.5_Missense_Mutation_p.R274K	NM_001256494.1	NP_001243423.1	Q9NTJ4	MA2C1_HUMAN	mannosidase, alpha, class 2C, member 1	274					mannose metabolic process		alpha-mannosidase activity|carbohydrate binding|protein binding|zinc ion binding			central_nervous_system(4)|endometrium(4)|kidney(6)|large_intestine(6)|lung(20)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	44						GGCACATTTCCTCACAGTCTC	0.617													11	25					0	0	1	0	0	T	75655059	C	T	75655059	3	4	133	1	0	0	0	0	1	0	0	0	9268	681	24	2	2381	2	MAN2C1	15	75655059	Missense_Mutation	SNP	C	TCGA-DU-A5TT-01A-11D-A289-08	50441960	75655059	26876333	41	21774											
ITGAX	3687	broad.mit.edu	37	16	31391362	31391362	+	Silent	SNP	G	G	A	rs148941060		TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chr16:31391362G>A	ENST00000268296.4	+	26	3157	c.3036G>A	c.(3034-3036)gcG>gcA	p.A1012A	ITGAX_ENST00000562522.1_Silent_p.A1012A	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	1012					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						ACTTCCTGGCGCACATTCAGA	0.547													9	39					0	0	1	0	0	A	31391362	G	A	31391362	2	1	133	1	0	0	0	0	0	0	0	1	7933	1074	38	1		1	ITGAX	16	31391362	Silent	SNP	G	TCGA-DU-A5TT-01A-11D-A289-08		31391362	58963391	42	21775											
PHKB	5257	broad.mit.edu	37	16	47694709	47694709	+	Silent	SNP	C	C	T	rs17853186		TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chr16:47694709C>T	ENST00000455779.1	+	23	2339	c.2154C>T	c.(2152-2154)caC>caT	p.H718H	PHKB_ENST00000566044.1_Silent_p.H718H|PHKB_ENST00000299167.8_Silent_p.H725H|PHKB_ENST00000323584.5_Silent_p.H725H			Q93100	KPBB_HUMAN	phosphorylase kinase, beta	725					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|liver(1)|lung(18)|ovary(1)|skin(1)	41		all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203)				AACCCACCCACGAAATTCTTC	0.478													27	69					0	0	1	0	0	T	47694709	C	T	47694709	2	4	133	1	0	0	0	0	0	0	0	1	11893	535	19	1		1	PHKB	16	47694709	Silent	SNP	C	TCGA-DU-A5TT-01A-11D-A289-08	16303347	47694709	42660044	43	21776											
TP53	7157	broad.mit.edu	37	17	7578539	7578555	+	Splice_Site	DEL	TGAGGGCAGGGGAGTAC	TGAGGGCAGGGGAGTAC	-	rs137852792		TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chr17:7578539_7578555delTGAGGGCAGGGGAGTAC	ENST00000420246.2	-	5	508_523	c.376_391delGTACTCCCCTGCCCTCA	c.(376-393)gtactcccctgccctcaa>aa	p.VLPCPQ126fs	TP53_ENST00000455263.2_Splice_Site_p.VLPCPQ126fs|TP53_ENST00000359597.4_Splice_Site_p.VLPCPQ126fs|TP53_ENST00000445888.2_Splice_Site_p.VLPCPQ126fs|TP53_ENST00000413465.2_Splice_Site_p.VLPCPQ126fs|TP53_ENST00000269305.4_Splice_Site_p.VLPCPQ126fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	126	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Y -> C (in a familial cancer not matching 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 -> G (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|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.?(39)|p.S127F(23)|p.L130F(16)|p.Y126*(14)|p.L130V(11)|p.Y126D(9)|p.S127Y(8)|p.N131del(8)|p.N131Y(8)|p.0?(8)|p.L130R(7)|p.S127C(7)|p.P128S(7)|p.S127T(6)|p.S127P(6)|p.Y126_K132delYSPALNK(6)|p.Y126N(6)|p.P128fs*42(5)|p.L130L(4)|p.Y126C(4)|p.L130H(3)|p.L37F(3)|p.Y126_S127insQPHH(3)|p.A129fs*20(3)|p.Y126_N131delYSPALN(3)|p.P128L(3)|p.A129fs*41(3)|p.Y33*(2)|p.L130fs*19(2)|p.S34C(2)|p.N131H(2)|p.N131fs*27(2)|p.N131fs*39(2)|p.Y126S(2)|p.Y126fs*44(2)|p.A129V(2)|p.A129T(2)|p.Y33D(2)|p.L130fs*41(2)|p.Y126fs*11(1)|p.S127S(1)|p.S127_Q136del10(1)|p.A129_L130insXX(1)|p.A129_N131delALN(1)|p.T125_Y126insX(1)|p.Y126Y(1)|p.L130P(1)|p.V73fs*9(1)|p.S127fs*43(1)|p.Y126fs*18(1)|p.L130fs*39(1)|p.L130fs*16(1)|p.A129_K132delALNK(1)|p.L130_M133delLNKM(1)|p.A129del(1)|p.S34F(1)|p.A36fs*41(1)|p.A129G(1)|p.A129D(1)|p.A36fs*20(1)|p.S34P(1)|p.S127fs*22(1)|p.P13fs*18(1)|p.L130fs*40(1)|p.S127fs*42(1)|p.S127fs*36(1)|p.P128fs*18(1)|p.L130del(1)|p.P128A(1)|p.Y33_S34insQPHH(1)|p.P128del(1)|p.P128P(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)		AACATCTTGTTGAGGGCAGGGGAGTACTGTAGGAAGA	0.548		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)			14	23	---	---	---	---						-	7578555	TGAGGGCAGGGGAGTAC	-	7578539	8	5	133	1	0	1	0	1	0	0	1	0	16442	1812	63	0	907	0	TP53	17	7578539	Splice_Site	DEL	TGAGGGCAGGGGAGTAC	TCGA-DU-A5TT-01A-11D-A289-08		7578539	73616671	44	21777											
MYO15A	51168	broad.mit.edu	37	17	18023395	18023395	+	Silent	SNP	C	C	T			TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chr17:18023395C>T	ENST00000205890.5	+	2	1619	c.1281C>T	c.(1279-1281)caC>caT	p.H427H		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	427	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					CGTATGCCCACGCCATGGATG	0.667													15	56					0	0	1	0	0	T	18023395	C	T	18023395	2	4	133	1	0	0	0	0	0	0	0	1	10111	535	19	1		1	MYO15A	17	18023395	Silent	SNP	C	TCGA-DU-A5TT-01A-11D-A289-08	10444856	18023395	63171815	45	21778											
STAT3	6774	broad.mit.edu	37	17	40500443	40500443	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chr17:40500443C>T	ENST00000264657.5	-	2	404	c.92G>A	c.(91-93)cGg>cAg	p.R31Q	STAT3_ENST00000404395.3_Missense_Mutation_p.R31Q|STAT3_ENST00000389272.3_Intron|STAT3_ENST00000588969.1_Missense_Mutation_p.R31Q|STAT3_ENST00000585517.1_Missense_Mutation_p.R31Q	NM_003150.3|NM_139276.2	NP_003141.2|NP_644805.1	P40763	STAT3_HUMAN	signal transducer and activator of transcription 3 (acute-phase response factor)	31					cellular component movement|eating behavior|eye photoreceptor cell differentiation|glucose homeostasis|interleukin-6-mediated signaling pathway|interspecies interaction between organisms|JAK-STAT cascade involved in growth hormone signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein import into nucleus|response to estradiol stimulus|sexual reproduction|temperature homeostasis	cytosol|nucleus|plasma membrane	calcium ion binding|ligand-regulated transcription factor activity|protein dimerization activity|protein kinase binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135)		BRCA - Breast invasive adenocarcinoma(366;0.139)		CAGAAACTGCCGCAGCTCCAT	0.483									Hyperimmunoglobulin E Recurrent Infection Syndrome				27	49					0	0	1	0	0	T	40500443	C	T	40500443	3	4	133	1	0	0	0	0	1	0	0	0	15322	652	23	1	2312	1	STAT3	17	40500443	Missense_Mutation	SNP	C	TCGA-DU-A5TT-01A-11D-A289-08	22477048	40500443	40694767	46	21779											
EMR1	2015	broad.mit.edu	37	19	6937659	6937659	+	Splice_Site	SNP	G	G	A			TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chr19:6937659G>A	ENST00000312053.4	+	20	2692	c.2655G>A	c.(2653-2655)acG>acA	p.T885T	EMR1_ENST00000381404.4_Splice_Site_p.T866T|EMR1_ENST00000450315.3_Splice_Site_p.T708T|EMR1_ENST00000381407.5_Splice_Site_p.T744T|EMR1_ENST00000250572.8_Splice_Site_p.T820T	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 1	885					cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					CTTCCAAGACGGTGAGAGACT	0.582													32	70					0	0	1	0	0	A	6937659	G	A	6937659	5	1	133	1	0	0	0	0	0	0	1	0	5132	1130	39	1	2733	1	EMR1	19	6937659	Splice_Site	SNP	G	TCGA-DU-A5TT-01A-11D-A289-08		6937659	52191324	47	21780											
CD209	30835	broad.mit.edu	37	19	7811372	7811372	+	Missense_Mutation	SNP	G	G	A	rs151250046		TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chr19:7811372G>A	ENST00000315599.7	-	3	174	c.152C>T	c.(151-153)aCg>aTg	p.T51M	CD209_ENST00000354397.6_Missense_Mutation_p.T51M|CD209_ENST00000601256.1_Intron|CD209_ENST00000602261.1_Missense_Mutation_p.T51M|CD209_ENST00000315591.8_Intron|CD209_ENST00000593660.1_Intron|CD209_ENST00000204801.8_Intron|CD209_ENST00000394161.5_Missense_Mutation_p.T51M|CD209_ENST00000601951.1_Intron|CD209_ENST00000394173.4_Missense_Mutation_p.T51M|CD209_ENST00000593821.1_Intron|CD209_ENST00000301357.8_Intron	NM_001144895.1|NM_001144897.1|NM_021155.3	NP_001138367.1|NP_001138369.1|NP_066978.1	Q9NNX6	CD209_HUMAN	CD209 molecule	51					cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to membrane|plasma membrane	mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding			endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						AGCCAAGAGCGTGAAGGAGAG	0.647													38	110					0	0	1	0	0	A	7811372	G	A	7811372	3	1	133	1	0	0	0	0	1	0	0	0	3006	1145	40	1	1082	1	CD209	19	7811372	Missense_Mutation	SNP	G	TCGA-DU-A5TT-01A-11D-A289-08	873713	7811372	51317611	48	21781											
ZNF560	147741	broad.mit.edu	37	19	9577542	9577542	+	Missense_Mutation	SNP	C	C	T	rs148650284		TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chr19:9577542C>T	ENST00000301480.4	-	10	2294	c.2081G>A	c.(2080-2082)cGa>cAa	p.R694Q		NM_152476.2	NP_689689.2	Q96MR9	ZN560_HUMAN	zinc finger protein 560	694					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R694Q(1)		NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						CATGGAATTTCGAAAGGAATT	0.378													35	119					0	0	1	0	0	T	9577542	C	T	9577542	3	4	133	1	0	0	0	0	1	0	0	0	18048	884	31	1	295	1	ZNF560	19	9577542	Missense_Mutation	SNP	C	TCGA-DU-A5TT-01A-11D-A289-08	1766170	9577542	49551441	49	21782											
PGLYRP2	114770	broad.mit.edu	37	19	15586704	15586704	+	Silent	SNP	C	C	T			TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chr19:15586704C>T	ENST00000292609.4	-	2	906	c.777G>A	c.(775-777)acG>acA	p.T259T	PGLYRP2_ENST00000340880.4_Silent_p.T259T			Q96PD5	PGRP2_HUMAN	peptidoglycan recognition protein 2	259					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptide amidation|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding	p.T259T(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(2)|skin(3)|stomach(2)|urinary_tract(1)	28						GGTCCAAAAGCGTAAAGGTCC	0.617													16	64					0	0	1	0	0	T	15586704	C	T	15586704	2	4	133	1	0	0	0	0	0	0	0	1	11842	755	27	1		1	PGLYRP2	19	15586704	Silent	SNP	C	TCGA-DU-A5TT-01A-11D-A289-08	6009162	15586704	43542279	50	21783											
SIGLEC6	946	broad.mit.edu	37	19	52034027	52034027	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chr19:52034027C>T	ENST00000346477.3	-	3	682	c.614G>A	c.(613-615)cGg>cAg	p.R205Q	SIGLEC6_ENST00000425629.3_Missense_Mutation_p.R205Q|SIGLEC6_ENST00000391797.3_Missense_Mutation_p.R194Q|SIGLEC6_ENST00000359982.4_Missense_Mutation_p.R205Q|SIGLEC6_ENST00000343300.4_Missense_Mutation_p.R205Q|SIGLEC6_ENST00000436458.1_Missense_Mutation_p.R169Q	NM_198845.4	NP_942142.3	O43699	SIGL6_HUMAN	sialic acid binding Ig-like lectin 6	205	Ig-like C2-type 1.			RP -> A (in Ref. 4; AAB70702).	cell adhesion|cell-cell signaling	cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus				endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1)	28		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)		GTCCTGGGGCCGTGGGGTGAT	0.637													36	79					0	0	1	0	0	T	52034027	C	T	52034027	3	4	133	1	0	0	0	0	1	0	0	0	14367	652	23	1	804	1	SIGLEC6	19	52034027	Missense_Mutation	SNP	C	TCGA-DU-A5TT-01A-11D-A289-08	36447323	52034027	7094956	51	21784											
LAIR2	3904	broad.mit.edu	37	19	55019286	55019286	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chr19:55019286C>A	ENST00000301202.2	+	3	373	c.251C>A	c.(250-252)gCc>gAc	p.A84D	LAIR2_ENST00000351841.2_Missense_Mutation_p.A84D	NM_002288.4	NP_002279.2	Q6ISS4	LAIR2_HUMAN	leukocyte-associated immunoglobulin-like receptor 2	84	Ig-like C2-type.					extracellular region	receptor activity			central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)	18	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0967)		GAGTCAGAGGCCAGATTCCAC	0.502													6	100					5.9392e-07	6.48743e-07	1	1	0	A	55019286	C	A	55019286	3	1	133	1	0	0	0	0	1	0	0	0	8642	739	26	5	261	5	LAIR2	19	55019286	Missense_Mutation	SNP	C	TCGA-DU-A5TT-01A-11D-A289-08	2985259	55019286	4109697	52	21785											
ZSCAN18	65982	broad.mit.edu	37	19	58601354	58601354	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chr19:58601354A>G	ENST00000240727.6	-	2	680	c.281T>C	c.(280-282)cTg>cCg	p.L94P	ZSCAN18_ENST00000421612.2_Intron|ZSCAN18_ENST00000600404.1_Missense_Mutation_p.L150P|ZSCAN18_ENST00000601144.1_Missense_Mutation_p.L94P	NM_023926.4	NP_076415.3	Q8TBC5	ZSC18_HUMAN	zinc finger and SCAN domain containing 18	94	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|skin(3)	19		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		GAACTGCTCCAGCACCAGCAG	0.677													33	94					0	0	1	0	0	G	58601354	A	G	58601354	3	3	133	1	0	0	0	0	1	0	0	0	18271	188	7	3	1275	3	ZSCAN18	19	58601354	Missense_Mutation	SNP	A	TCGA-DU-A5TT-01A-11D-A289-08	3582068	58601354	527629	53	21786											
CBLN4	140689	broad.mit.edu	37	20	54578992	54578992	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chr20:54578992G>T	ENST00000064571.2	-	1	1536	c.236C>A	c.(235-237)aCc>aAc	p.T79N		NM_080617.5	NP_542184.1	Q9NTU7	CBLN4_HUMAN	cerebellin 4 precursor	79	C1q.					cell junction|extracellular region|synapse				endometrium(2)|large_intestine(1)|lung(10)|ovary(3)|pancreas(1)	17			Colorectal(105;0.202)			CTCGTGGTTGGTGCTCCGCAC	0.652													61	198					7.92265e-33	9.22144e-33	1	1	0	T	54578992	G	T	54578992	3	4	133	1	0	0	0	0	1	0	0	0	2725	1261	44	5	381	5	CBLN4	20	54578992	Missense_Mutation	SNP	G	TCGA-DU-A5TT-01A-11D-A289-08		54578992	8446528	54	21787											
KRTAP10-5	386680	broad.mit.edu	37	21	46000163	46000163	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chr21:46000163C>G	ENST00000400372.1	-	1	318	c.293G>C	c.(292-294)tGc>tCc	p.C98S	TSPEAR_ENST00000323084.4_Intron	NM_198694.2	NP_941967.2	P60370	KR105_HUMAN	keratin associated protein 10-5	98	22 X 5 AA repeats of C-C-X(3).					keratin filament				endometrium(2)|kidney(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	14						gggcaggcagcacacaggctt	0.652													60	89					0	0	1	0	0	G	46000163	C	G	46000163	3	3	133	1	0	0	0	0	1	0	0	0	8555	710	25	5	526	5	KRTAP10-5	21	46000163	Missense_Mutation	SNP	C	TCGA-DU-A5TT-01A-11D-A289-08		46000163	2129732	55	21788											
ITGB2	3689	broad.mit.edu	37	21	46320364	46320364	+	Silent	SNP	C	C	T			TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chr21:46320364C>T	ENST00000397850.2	-	8	1220	c.768G>A	c.(766-768)acG>acA	p.T256T	ITGB2_ENST00000355153.4_Silent_p.T256T|ITGB2_ENST00000397852.1_Silent_p.T256T|ITGB2_ENST00000397857.1_Silent_p.T256T|ITGB2_ENST00000397854.3_Silent_p.T199T|ITGB2_ENST00000302347.5_Silent_p.T256T			P05107	ITB2_HUMAN	integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)	256	VWFA.				apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation	integrin complex	glycoprotein binding|protein kinase binding|receptor activity			breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3)	35				Colorectal(79;0.0669)	Simvastatin(DB00641)	CCAGCAGCCGCGTGACGTTGC	0.657													41	63					0	0	1	0	0	T	46320364	C	T	46320364	2	4	133	1	0	0	0	0	0	0	0	1	7938	755	27	1		1	ITGB2	21	46320364	Silent	SNP	C	TCGA-DU-A5TT-01A-11D-A289-08	320201	46320364	1809531	56	21789											
MAGEB16	139604	broad.mit.edu	37	X	35820627	35820627	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chrX:35820627C>T	ENST00000399989.1	+	2	593	c.314C>T	c.(313-315)cCc>cTc	p.P105L	MAGEB16_ENST00000399985.1_Missense_Mutation_p.P105L|MAGEB16_ENST00000399992.1_Missense_Mutation_p.P137L|MAGEB16_ENST00000399988.1_Missense_Mutation_p.P105L|MAGEB16_ENST00000399987.1_Missense_Mutation_p.P105L	NM_001099921.1	NP_001093391.1	A2A368	MAGBG_HUMAN	melanoma antigen family B, 16	105										breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						ACATCAGACCCCAGGAATGTG	0.468													10	14					0	0	1	0	0	T	35820627	C	T	35820627	3	4	133	1	0	0	0	0	1	0	0	0	9224	623	22	2	316	2	MAGEB16	23	35820627	Missense_Mutation	SNP	C	TCGA-DU-A5TT-01A-11D-A289-08		35820627	119449933	57	21790											
RPS6KA6	27330	broad.mit.edu	37	X	83319382	83319382	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chrX:83319382A>G	ENST00000262752.2	-	22	2148	c.2141T>C	c.(2140-2142)cTg>cCg	p.L714P	RPS6KA6_ENST00000543399.1_Missense_Mutation_p.L714P	NM_014496.4	NP_055311.1	Q9UK32	KS6A6_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 6	714					axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						CTTGTGAGTCAGGGCAGAGTA	0.418													8	12					0	0	1	0	0	G	83319382	A	G	83319382	3	3	133	1	0	0	0	0	1	0	0	0	13707	188	7	3	100	3	RPS6KA6	23	83319382	Missense_Mutation	SNP	A	TCGA-DU-A5TT-01A-11D-A289-08	47498755	83319382	71951178	58	21791											
SLITRK4	139065	broad.mit.edu	37	X	142717376	142717376	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chrX:142717376G>T	ENST00000381779.4	-	2	1774	c.1549C>A	c.(1549-1551)Ctt>Att	p.L517I	SLITRK4_ENST00000338017.4_Missense_Mutation_p.L517I|SLITRK4_ENST00000356928.1_Missense_Mutation_p.L517I	NM_001184749.2|NM_001184750.1|NM_173078.4	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	517						integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					AACTGATCAAGGACCCCACTG	0.483													68	76					9.61844e-40	1.15747e-39	1	1	0	T	142717376	G	T	142717376	3	4	133	1	0	0	0	0	1	0	0	0	14799	1000	35	4	968	4	SLITRK4	23	142717376	Missense_Mutation	SNP	G	TCGA-DU-A5TT-01A-11D-A289-08	59397994	142717376	12553184	59	21792											
WARS2	10352	broad.mit.edu	37	1	119576827	119576827	+	Silent	SNP	G	G	A			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr1:119576827G>A	ENST00000369426.5	-	5	528	c.525C>T	c.(523-525)caC>caT	p.H175H	WARS2_ENST00000235521.4_Silent_p.H175H|WARS2_ENST00000537870.1_Silent_p.H81H			Q9UGM6	SYWM_HUMAN	tryptophanyl tRNA synthetase 2, mitochondrial	175					tryptophanyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|tryptophan-tRNA ligase activity	p.H175H(2)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(2)	15	all_neural(166;0.187)	all_lung(203;2.48e-06)|Lung NSC(69;1.74e-05)|all_epithelial(167;0.000564)		Lung(183;0.0629)	L-Tryptophan(DB00150)	CAACAGGAACGTGTGTGGACC	0.433													27	53					0	0	1	0	0	A	119576827	G	A	119576827	2	1	134	1	0	0	0	0	0	0	0	1	17310	1136	40	1		1	WARS2	1	119576827	Silent	SNP	G	TCGA-DU-A5TU-01A-11D-A289-08		119576827	129673794	1	21793											
HSD3B1	3283	broad.mit.edu	37	1	120057162	120057162	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr1:120057162C>T	ENST00000235547.6	+	4	1161	c.1022C>T	c.(1021-1023)gCg>gTg	p.A341V	HSD3B1_ENST00000528909.1_Missense_Mutation_p.A339V|HSD3B1_ENST00000369413.3_Missense_Mutation_p.A339V	NM_000862.2	NP_000853.1	P14060	3BHS1_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1	339					androgen biosynthetic process|estrogen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process	integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity	p.A339V(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(18)|ovary(2)|prostate(1)|skin(1)	32	all_neural(166;0.219)	all_lung(203;3.16e-06)|Lung NSC(69;2.19e-05)|all_epithelial(167;0.000624)		Lung(183;0.0106)|LUSC - Lung squamous cell carcinoma(189;0.0554)	NADH(DB00157)|Trilostane(DB01108)	CGAGATCTGGCGTATAAGCCA	0.512													6	98					0	0	1	0	0	T	120057162	C	T	120057162	3	4	134	1	0	0	0	0	1	0	0	0	7431	768	27	1	1026	1	HSD3B1	1	120057162	Missense_Mutation	SNP	C	TCGA-DU-A5TU-01A-11D-A289-08	480335	120057162	129193459	2	21794											
CD1B	910	broad.mit.edu	37	1	158298792	158298792	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr1:158298792G>A	ENST00000368168.3	-	5	1006	c.899C>T	c.(898-900)tCc>tTc	p.S300F		NM_001764.2	NP_001755.1	P29016	CD1B_HUMAN	CD1b molecule	300					antigen processing and presentation|immune response	endosome membrane|integral to membrane|lysosomal membrane|plasma membrane	protein binding			breast(2)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	30	all_hematologic(112;0.0378)					TGAGCCAATGGAGGTGGGGTT	0.463													17	38					0	0	1	0	0	A	158298792	G	A	158298792	3	1	134	1	0	0	0	0	1	0	0	0	2997	1174	41	2	110	2	CD1B	1	158298792	Missense_Mutation	SNP	G	TCGA-DU-A5TU-01A-11D-A289-08	38241630	158298792	90951829	3	21795											
ARHGAP30	257106	broad.mit.edu	37	1	161019353	161019353	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr1:161019353G>A	ENST00000368013.3	-	11	1867	c.1547C>T	c.(1546-1548)tCa>tTa	p.S516L	ARHGAP30_ENST00000368016.3_Missense_Mutation_p.S516L|ARHGAP30_ENST00000368015.1_Missense_Mutation_p.S339L	NM_001025598.1|NM_181720.2	NP_001020769.1|NP_859071.2	Q7Z6I6	RHG30_HUMAN	Rho GTPase activating protein 30	516					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	p.S516L(2)		breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			TGAGCTGCTTGAGTCCTCTAG	0.647													66	110					0	0	1	0	0	A	161019353	G	A	161019353	3	1	134	1	0	0	0	0	1	0	0	0	876	1294	45	2	1766	2	ARHGAP30	1	161019353	Missense_Mutation	SNP	G	TCGA-DU-A5TU-01A-11D-A289-08	2720561	161019353	88231268	4	21796											
ADSS	159	broad.mit.edu	37	1	244581040	244581040	+	Silent	SNP	T	T	C			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr1:244581040T>C	ENST00000366535.3	-	10	1276	c.960A>G	c.(958-960)ttA>ttG	p.L320L		NM_001126.3	NP_001117.2	P30520	PURA2_HUMAN	adenylosuccinate synthase	320					AMP biosynthetic process|immune system process|purine base metabolic process	cytosol|plasma membrane	adenylosuccinate synthase activity|GTP binding|magnesium ion binding|phosphate binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	12	all_cancers(71;2.17e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)	all_cancers(173;0.0896)|all_epithelial(177;0.172)	all cancers(7;9.71e-08)|GBM - Glioblastoma multiforme(7;1.28e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.0014)		L-Aspartic Acid(DB00128)	TTGTTTGTAATAATTCTCCAA	0.363													20	25					0	0	1	0	0	C	244581040	T	C	244581040	2	2	134	1	0	0	0	0	0	0	0	1	346	1403	49	3		3	ADSS	1	244581040	Silent	SNP	T	TCGA-DU-A5TU-01A-11D-A289-08	83561687	244581040	4669581	5	21797											
RSAD2	91543	broad.mit.edu	37	2	7027291	7027291	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr2:7027291G>A	ENST00000382040.3	+	3	870	c.734G>A	c.(733-735)tGg>tAg	p.W245*	RSAD2_ENST00000541728.1_Nonsense_Mutation_p.W138*	NM_080657.4	NP_542388.2	Q8WXG1	RSAD2_HUMAN	radical S-adenosyl methionine domain containing 2	245					defense response to virus	endoplasmic reticulum membrane|Golgi apparatus	catalytic activity|iron-sulfur cluster binding|metal ion binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)	20	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			OV - Ovarian serous cystadenocarcinoma(76;0.191)		CCTGTCCGCTGGAAAGTAAGT	0.378													14	42					0	0	1	0	0	A	7027291	G	A	7027291	4	1	134	1	0	0	0	0	0	1	0	0	13747	1357	47	2	744	2	RSAD2	2	7027291	Nonsense_Mutation	SNP	G	TCGA-DU-A5TU-01A-11D-A289-08		7027291	236172082	6	21798											
TTN	7273	broad.mit.edu	37	2	179591837	179591837	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr2:179591837C>A	ENST00000589042.1	-	69	20479	c.20255G>T	c.(20254-20256)aGt>aTt	p.S6752I	TTN_ENST00000591111.1_Missense_Mutation_p.S6435I|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.S5508I|TTN_ENST00000359218.5_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	6435	Ig-like 49.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AACCTTGGTACTGCAGCTTGT	0.418													6	104					0.00198382	0.00204995	1	1	0	A	179591837	C	A	179591837	3	1	134	1	0	0	0	0	1	0	0	0	16797	565	20	4	84450	4	TTN	2	179591837	Missense_Mutation	SNP	C	TCGA-DU-A5TU-01A-11D-A289-08	172564546	179591837	63607536	7	21799											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	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	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								24	40					0	0	1	0	0	T	209113112	C	T	209113112	3	4	134	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-DU-A5TU-01A-11D-A289-08	29521275	209113112	34086261	8	21800											
MORC1	27136	broad.mit.edu	37	3	108788570	108788570	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr3:108788570A>C	ENST00000232603.5	-	9	806	c.724T>G	c.(724-726)Tct>Gct	p.S242A	MORC1_ENST00000483760.1_Missense_Mutation_p.S242A	NM_014429.3	NP_055244.3	Q86VD1	MORC1_HUMAN	MORC family CW-type zinc finger 1	242					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						TACAGAACAGATGTGTAGGCT	0.378													26	38					0	0	1	0	0	C	108788570	A	C	108788570	3	2	134	1	0	0	0	0	1	0	0	0	9750	333	12	4	2310	4	MORC1	3	108788570	Missense_Mutation	SNP	A	TCGA-DU-A5TU-01A-11D-A289-08		108788570	89233860	9	21801											
SLCO2A1	6578	broad.mit.edu	37	3	133670173	133670173	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr3:133670173A>G	ENST00000310926.4	-	6	1013	c.740T>C	c.(739-741)gTc>gCc	p.V247A	SLCO2A1_ENST00000493729.1_Missense_Mutation_p.V171A	NM_005630.2	NP_005621.2	Q92959	SO2A1_HUMAN	solute carrier organic anion transporter family, member 2A1	247					sodium-independent organic anion transport	integral to plasma membrane|membrane fraction	prostaglandin transmembrane transporter activity|protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2)	30						GTCACCCGGGACCAAGTTAAC	0.478													13	49					0	0	1	0	0	G	133670173	A	G	133670173	3	3	134	1	0	0	0	0	1	0	0	0	14781	275	10	3	1227	3	SLCO2A1	3	133670173	Missense_Mutation	SNP	A	TCGA-DU-A5TU-01A-11D-A289-08	24881603	133670173	64352257	10	21802											
PAK2	5062	broad.mit.edu	37	3	196533532	196533532	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr3:196533532C>T	ENST00000327134.3	+	6	873	c.551C>T	c.(550-552)gCc>gTc	p.A184V		NM_002577.4	NP_002568.2	Q13177	PAK2_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 2	184					axon guidance|cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of protein kinase activity|peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of apoptosis|regulation of defense response to virus by virus|regulation of growth|T cell costimulation|T cell receptor signaling pathway|viral reproduction	cytosol|nucleus|perinuclear region of cytoplasm|plasma membrane	ATP binding|identical protein binding|protein kinase binding|protein serine/threonine kinase activity|protein tyrosine kinase activator activity			breast(1)|cervix(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	12	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.07e-23)|all cancers(36;6.38e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00405)		CCCGTTATTGCCCCGCGACCG	0.483													4	59					0	0	1	0	0	T	196533532	C	T	196533532	3	4	134	1	0	0	0	0	1	0	0	0	11448	739	26	2	569	2	PAK2	3	196533532	Missense_Mutation	SNP	C	TCGA-DU-A5TU-01A-11D-A289-08	62863359	196533532	1488898	11	21803											
LGI2	55203	broad.mit.edu	37	4	25005398	25005398	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr4:25005398C>A	ENST00000382114.4	-	8	1498	c.1313G>T	c.(1312-1314)cGc>cTc	p.R438L		NM_018176.3	NP_060646.2	Q8N0V4	LGI2_HUMAN	leucine-rich repeat LGI family, member 2	438						extracellular region		p.R438H(1)|p.R438L(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(2)	33		Breast(46;0.173)				CCCGATGAAGCGGGTAAGGGA	0.542													15	375					1.99824e-07	2.13605e-07	1	1	0	A	25005398	C	A	25005398	3	1	134	1	0	0	0	0	1	0	0	0	8792	768	27	5	328	5	LGI2	4	25005398	Missense_Mutation	SNP	C	TCGA-DU-A5TU-01A-11D-A289-08		25005398	166148878	12	21804											
RFC1	5981	broad.mit.edu	37	4	39306546	39306546	+	Silent	SNP	C	C	T			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr4:39306546C>T	ENST00000381897.1	-	15	2134	c.2001G>A	c.(1999-2001)gaG>gaA	p.E667E	RFC1_ENST00000349703.2_Silent_p.E666E	NM_001204747.1|NM_002913.4	NP_001191676.1|NP_002904.3	P35251	RFC1_HUMAN	replication factor C (activator 1) 1, 145kDa	667					DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|telomere maintenance via telomerase|transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|enzyme activator activity|protein binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						TGTATCCCAACTCCTAATCAA	0.433													16	219					0	0	1	0	0	T	39306546	C	T	39306546	2	4	134	1	0	0	0	0	0	0	0	1	13296	564	20	2		2	RFC1	4	39306546	Silent	SNP	C	TCGA-DU-A5TU-01A-11D-A289-08	14301148	39306546	151847730	13	21805											
ENPEP	2028	broad.mit.edu	37	4	111397844	111397844	+	Nonsense_Mutation	SNP	C	C	T	rs143343563		TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr4:111397844C>T	ENST00000265162.5	+	1	616	c.274C>T	c.(274-276)Cga>Tga	p.R92*		NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	92					cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)	GAAAAACTTTCGACTGCCGGA	0.612													16	119					0	0	1	0	0	T	111397844	C	T	111397844	4	4	134	1	0	0	0	0	0	1	0	0	5156	876	31	1	276	1	ENPEP	4	111397844	Nonsense_Mutation	SNP	C	TCGA-DU-A5TU-01A-11D-A289-08	72091298	111397844	79756432	14	21806											
KIAA1109	84162	broad.mit.edu	37	4	123140536	123140536	+	Silent	SNP	A	A	G			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr4:123140536A>G	ENST00000264501.4	+	21	2662	c.2289A>G	c.(2287-2289)gaA>gaG	p.E763E	KIAA1109_ENST00000455637.1_Silent_p.E763E|KIAA1109_ENST00000388738.3_Silent_p.E763E|KIAA1109_ENST00000495260.1_3'UTR			Q2LD37	K1109_HUMAN	KIAA1109	763					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						TGGATTTTGAAGAGGTTATCT	0.353													59	97					0	0	1	0	0	G	123140536	A	G	123140536	2	3	134	1	0	0	0	0	0	0	0	1	8250	69	3	3		3	KIAA1109	4	123140536	Silent	SNP	A	TCGA-DU-A5TU-01A-11D-A289-08	11742692	123140536	68013740	15	21807											
C6	729	broad.mit.edu	37	5	41203312	41203312	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr5:41203312C>G	ENST00000263413.3	-	2	285	c.21G>C	c.(19-21)ttG>ttC	p.L7F	C6_ENST00000337836.5_Missense_Mutation_p.L7F	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	7					complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				GGATGAAGTACAAGACAGAGC	0.448													6	123					0	0	1	0	0	G	41203312	C	G	41203312	3	3	134	1	0	0	0	0	1	0	0	0	2329	477	17	5	2851	5	C6	5	41203312	Missense_Mutation	SNP	C	TCGA-DU-A5TU-01A-11D-A289-08		41203312	139711948	16	21808											
MAP3K1	4214	broad.mit.edu	37	5	56178277	56178277	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr5:56178277G>A	ENST00000399503.3	+	14	3250	c.3250G>A	c.(3250-3252)Gat>Aat	p.D1084N		NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase	1084					cellular response to mechanical stimulus|innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|zinc ion binding			NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		CATGACACTTGATCTGAACAG	0.453													6	72					0	0	1	0	0	A	56178277	G	A	56178277	3	1	134	1	0	0	0	0	1	0	0	0	9293	1290	45	2	3304	2	MAP3K1	5	56178277	Missense_Mutation	SNP	G	TCGA-DU-A5TU-01A-11D-A289-08	14974965	56178277	124736983	17	21809											
TDRD6	221400	broad.mit.edu	37	6	46659874	46659874	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr6:46659874A>G	ENST00000544460.1	+	1	4263	c.4009A>G	c.(4009-4011)Aga>Gga	p.R1337G	TDRD6_ENST00000316081.6_Missense_Mutation_p.R1337G	NM_001168359.1	NP_001161831.1	O60522	TDRD6_HUMAN	tudor domain containing 6	1337					cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			TCTTTCAGAGAGATTAAACAG	0.323													7	106					0	0	1	0	0	G	46659874	A	G	46659874	3	3	134	1	0	0	0	0	1	0	0	0	15793	296	11	3	4011	3	TDRD6	6	46659874	Missense_Mutation	SNP	A	TCGA-DU-A5TU-01A-11D-A289-08		46659874	124455193	18	21810											
CARD11	84433	broad.mit.edu	37	7	2954958	2954958	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr7:2954958G>A	ENST00000396946.4	-	21	3155	c.2752C>T	c.(2752-2754)Cgg>Tgg	p.R918W		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	918					positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		ATGCGGACCCGCTCGTTGCTG	0.592			Mis		DLBCL								34	80					0	0	1	0	0	A	2954958	G	A	2954958	3	1	134	1	0	0	0	0	1	0	0	0	2663	1086	38	1	732	1	CARD11	7	2954958	Missense_Mutation	SNP	G	TCGA-DU-A5TU-01A-11D-A289-08		2954958	156183705	19	21811											
FKBP6	8468	broad.mit.edu	37	7	72755293	72755293	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr7:72755293T>C	ENST00000252037.4	+	7	874	c.805T>C	c.(805-807)Tat>Cat	p.Y269H	FKBP6_ENST00000413573.2_Missense_Mutation_p.Y239H|FKBP6_ENST00000431982.2_Missense_Mutation_p.Y264H	NM_003602.3	NP_003593.3	O75344	FKBP6_HUMAN	FK506 binding protein 6, 36kDa	269					protein folding	membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)	16		Lung NSC(55;0.0908)|all_lung(88;0.198)				CCTGACTGAGTATCAAAAGGC	0.463													24	290					0	0	1	0	0	C	72755293	T	C	72755293	3	2	134	1	0	0	0	0	1	0	0	0	5945	1638	57	3	877	3	FKBP6	7	72755293	Missense_Mutation	SNP	T	TCGA-DU-A5TU-01A-11D-A289-08	69800335	72755293	86383370	20	21812											
AKAP9	10142	broad.mit.edu	37	7	91631134	91631134	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr7:91631134G>T	ENST00000359028.2	+	9	2164	c.1939G>T	c.(1939-1941)Gaa>Taa	p.E647*	AKAP9_ENST00000358100.2_Nonsense_Mutation_p.E647*|AKAP9_ENST00000356239.3_Nonsense_Mutation_p.E635*			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	647	Glu-rich.				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TAGTCACGAAGAAGAGCTTTC	0.328			T	BRAF	papillary thyroid								46	59					1.06522e-23	1.20079e-23	1	1	0	T	91631134	G	T	91631134	4	4	134	1	0	0	0	0	0	1	0	0	456	943	33	4	1933	4	AKAP9	7	91631134	Nonsense_Mutation	SNP	G	TCGA-DU-A5TU-01A-11D-A289-08	18875841	91631134	67507529	21	21813											
GJC3	349149	broad.mit.edu	37	7	99526519	99526519	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr7:99526519T>G	ENST00000312891.2	-	1	724	c.725A>C	c.(724-726)aAg>aCg	p.K242T		NM_181538.2	NP_853516.1	Q8NFK1	CXG3_HUMAN	gap junction protein, gamma 3, 30.2kDa	242						connexon complex|integral to membrane				breast(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)	9	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)					GGTTGCTTTCTTGTGTCTTCT	0.483													19	72					0	0	1	0	0	G	99526519	T	G	99526519	3	3	134	1	0	0	0	0	1	0	0	0	6458	1609	56	5	122	5	GJC3	7	99526519	Missense_Mutation	SNP	T	TCGA-DU-A5TU-01A-11D-A289-08	7895385	99526519	59612144	22	21814											
CALD1	800	broad.mit.edu	37	7	134618474	134618476	+	In_Frame_Del	DEL	GGA	GGA	-			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr7:134618474_134618476delGGA	ENST00000361675.2	+	5	1183_1185	c.954_956delGGA	c.(952-957)agggag>agg	p.E321del	CALD1_ENST00000424922.1_Intron|CALD1_ENST00000361388.2_Intron|CALD1_ENST00000495522.1_Intron|CALD1_ENST00000422748.1_Intron|CALD1_ENST00000543443.1_Intron|CALD1_ENST00000393118.2_Intron|CALD1_ENST00000361901.2_Intron|CALD1_ENST00000417172.1_Intron			Q05682	CALD1_HUMAN	caldesmon 1	321	3 X 14 AA tandem repeats of E-E-E-K-R-A- A-E-E-R-Q-R-I-K.				cellular component movement|muscle contraction	cytosol|focal adhesion|myofibril	actin binding|calmodulin binding|myosin binding|tropomyosin binding			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(15)|lung(10)	43						aaaggatgagggaggaagagaaa	0.483													8	7	---	---	---	---						-	134618476	GGA	-	134618474	7	5	134	1	0	1	0	1	0	0	0	0	2599	1223	43	0	1021	0	CALD1	7	134618474	In_Frame_Del	DEL	GGA	TCGA-DU-A5TU-01A-11D-A289-08	35091955	134618474	24520189	23	21815											
SLC39A4	55630	broad.mit.edu	37	8	145639357	145639357	+	Silent	SNP	C	C	G			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr8:145639357C>G	ENST00000276833.5	-	6	1500	c.1197G>C	c.(1195-1197)ctG>ctC	p.L399L	SLC39A4_ENST00000301305.3_Silent_p.L424L	NM_001280557.1|NM_017767.2	NP_001267486.1|NP_060237	Q6P5W5	S39A4_HUMAN	solute carrier family 39 (zinc transporter), member 4	424						cytoplasmic membrane-bounded vesicle|integral to membrane|recycling endosome membrane	zinc ion transmembrane transporter activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	14	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;1.08e-41)|Epithelial(56;1.12e-40)|all cancers(56;8.17e-36)|BRCA - Breast invasive adenocarcinoma(115;0.0407)|Colorectal(110;0.055)			GGTCCCTGGGCAGCAGGAGAT	0.652													15	10					0	0	1	0	0	G	145639357	C	G	145639357	2	3	134	1	0	0	0	0	0	0	0	1	14675	697	25	5		5	SLC39A4	8	145639357	Silent	SNP	C	TCGA-DU-A5TU-01A-11D-A289-08		145639357	724665	24	21816											
C8orf33	65265	broad.mit.edu	37	8	146278473	146278473	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr8:146278473C>T	ENST00000331434.6	+	3	458	c.344C>T	c.(343-345)gCt>gTt	p.A115V		NM_023080.2	NP_075568.1	Q9H7E9	CH033_HUMAN	chromosome 8 open reading frame 33	115										endometrium(1)|large_intestine(1)|lung(4)|urinary_tract(1)	7	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;9.1e-38)|all cancers(56;7.37e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.243)		CAGGAATTGGCTTGGTGTGTG	0.587													6	86					0	0	1	0	0	T	146278473	C	T	146278473	3	4	134	1	0	0	0	0	1	0	0	0	2438	797	28	2	354	2	C8orf33	8	146278473	Missense_Mutation	SNP	C	TCGA-DU-A5TU-01A-11D-A289-08	639116	146278473	85549	25	21817											
PLCE1	51196	broad.mit.edu	37	10	96005955	96005955	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr10:96005955G>T	ENST00000371380.3	+	7	2908	c.2673G>T	c.(2671-2673)ttG>ttT	p.L891F	PLCE1_ENST00000371375.1_Missense_Mutation_p.L583F|PLCE1_ENST00000371385.3_Missense_Mutation_p.L583F|PLCE1_ENST00000260766.3_Missense_Mutation_p.L891F			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1						activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				ATAGCACCTTGACCTGGGTAA	0.552													28	29					1.77063e-15	1.96034e-15	1	1	0	T	96005955	G	T	96005955	3	4	134	1	0	0	0	0	1	0	0	0	12082	1281	45	5	2985	5	PLCE1	10	96005955	Missense_Mutation	SNP	G	TCGA-DU-A5TU-01A-11D-A289-08		96005955	39528792	26	21818											
ENTPD7	57089	broad.mit.edu	37	10	101464242	101464242	+	Silent	SNP	T	T	C			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr10:101464242T>C	ENST00000370489.4	+	13	1795	c.1617T>C	c.(1615-1617)caT>caC	p.H539H	CUTC_ENST00000493385.1_Intron	NM_020354.3	NP_065087.1	Q9NQZ7	ENTP7_HUMAN	ectonucleoside triphosphate diphosphohydrolase 7	539						cytoplasmic vesicle membrane|integral to membrane	hydrolase activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|urinary_tract(1)	18		Colorectal(252;0.234)		Epithelial(162;4.72e-10)|all cancers(201;3.75e-08)		GACAAGCCCATGGTAGCTGGT	0.458													37	72					0	0	1	0	0	C	101464242	T	C	101464242	2	2	134	1	0	0	0	0	0	0	0	1	5172	1461	51	3		3	ENTPD7	10	101464242	Silent	SNP	T	TCGA-DU-A5TU-01A-11D-A289-08	5458287	101464242	34070505	27	21819											
ACTN3	89	broad.mit.edu	37	11	66330634	66330634	+	RNA	SNP	C	C	T			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr11:66330634C>T	ENST00000502692.1	+	0	2921				ACTN3_ENST00000513398.1_RNA	NM_001258371.1	NP_001245300.1	Q08043	ACTN3_HUMAN	actinin, alpha 3 (gene/pseudogene)						focal adhesion assembly|muscle filament sliding|regulation of apoptosis	actin filament|cytosol|focal adhesion|pseudopodium	actin binding|calcium ion binding|integrin binding|protein homodimerization activity|structural constituent of muscle			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)	10						TGGCCTTCTCCAGTGCCCTCT	0.627													38	41					0	0	1	0	0	T	66330634	C	T	66330634	1	4	134	0	1	0	0	0	0	0	0	0	206	581	21	2		2	ACTN3	11	66330634	RNA	SNP	C	TCGA-DU-A5TU-01A-11D-A289-08		66330634	68675882	28	21820											
SLC7A7	9056	broad.mit.edu	37	14	23282566	23282566	+	Silent	SNP	C	C	T			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr14:23282566C>T	ENST00000397532.3	-	2	567	c.42G>A	c.(40-42)gaG>gaA	p.E14E	SLC7A7_ENST00000555702.1_Silent_p.E14E|SLC7A7_ENST00000397528.4_Silent_p.E14E|SLC7A7_ENST00000397529.2_Silent_p.E14E|SLC7A7_ENST00000554517.1_Intron|SLC7A7_ENST00000285850.7_Silent_p.E14E			Q9UM01	YLAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, y+L system), member 7	14					blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	basolateral plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2)	20	all_cancers(95;8.44e-05)			GBM - Glioblastoma multiforme(265;0.00741)		AGGTTTCCACCTCAGGCTGGG	0.562													38	77					0	0	1	0	0	T	23282566	C	T	23282566	2	4	134	1	0	0	0	0	0	0	0	1	14758	680	24	2		2	SLC7A7	14	23282566	Silent	SNP	C	TCGA-DU-A5TU-01A-11D-A289-08		23282566	84066974	29	21821											
RGS6	9628	broad.mit.edu	37	14	72976874	72976874	+	Silent	SNP	C	C	T			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr14:72976874C>T	ENST00000553530.1	+	14	1185	c.978C>T	c.(976-978)agC>agT	p.S326S	RGS6_ENST00000343854.6_Silent_p.S289S|RGS6_ENST00000402788.2_Silent_p.S326S|RGS6_ENST00000355512.6_Silent_p.S326S|RGS6_ENST00000407322.4_Silent_p.S326S|RGS6_ENST00000434263.2_Silent_p.S257S|RGS6_ENST00000555571.1_Silent_p.S326S|RGS6_ENST00000404301.2_Silent_p.S326S|RGS6_ENST00000553525.1_Silent_p.S326S|RGS6_ENST00000556437.1_Silent_p.S326S|RGS6_ENST00000554782.1_Silent_p.S187S|RGS6_ENST00000406236.4_Silent_p.S326S	NM_001204417.1|NM_001204418.1|NM_001204420.1|NM_001204421.1|NM_001204422.1|NM_004296.5	NP_001191346.1|NP_001191347.1|NP_001191349.1|NP_001191350.1|NP_001191351.1|NP_004287.3	P49758	RGS6_HUMAN	regulator of G-protein signaling 6	326	G protein gamma.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33				all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476)		AAGAGCCCAGCCAACAGCGAG	0.458													11	215					0	0	1	0	0	T	72976874	C	T	72976874	2	4	134	1	0	0	0	0	0	0	0	1	13359	738	26	2		2	RGS6	14	72976874	Silent	SNP	C	TCGA-DU-A5TU-01A-11D-A289-08	49694308	72976874	34372666	30	21822											
RTL1	388015	broad.mit.edu	37	14	101347483	101347483	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr14:101347483G>A	ENST00000534062.1	-	1	3701	c.3643C>T	c.(3643-3645)Cgt>Tgt	p.R1215C		NM_001134888.2	NP_001128360.1	E9PKS8	E9PKS8_HUMAN	retrotransposon-like 1	1215										breast(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(5)|pancreas(1)|prostate(2)|skin(2)	21						CGGTTCTGACGCAGGGCAGGG	0.627													4	2					0	0	1	0	0	A	101347483	G	A	101347483	3	1	134	1	0	0	0	0	1	0	0	0	13776	1087	38	1	437	1	RTL1	14	101347483	Missense_Mutation	SNP	G	TCGA-DU-A5TU-01A-11D-A289-08	28370609	101347483	6002057	31	21823											
FBN1	2200	broad.mit.edu	37	15	48764791	48764791	+	Silent	SNP	G	G	A	rs112375043		TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr15:48764791G>A	ENST00000316623.5	-	35	4748	c.4293C>T	c.(4291-4293)tgC>tgT	p.C1431C		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	1431	EGF-like 24; calcium-binding.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		AGCCCATGTCGCATTCACAGC	0.527													71	106					0	0	1	0	0	A	48764791	G	A	48764791	2	1	134	1	0	0	0	0	0	0	0	1	5735	1079	38	1		1	FBN1	15	48764791	Silent	SNP	G	TCGA-DU-A5TU-01A-11D-A289-08		48764791	53766601	32	21824											
ADAMTSL3	57188	broad.mit.edu	37	15	84373247	84373247	+	Missense_Mutation	SNP	G	G	T	rs77028575	byFrequency	TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr15:84373247G>T	ENST00000286744.5	+	3	400	c.176G>T	c.(175-177)cGc>cTc	p.R59L	ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.R59L	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	59						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			CTCACTTATCGCTATGATGAC	0.453													65	102					3.94839e-29	4.53334e-29	1	1	0	T	84373247	G	T	84373247	3	4	134	1	0	0	0	0	1	0	0	0	275	1087	38	5	182	5	ADAMTSL3	15	84373247	Missense_Mutation	SNP	G	TCGA-DU-A5TU-01A-11D-A289-08	35608456	84373247	18158145	33	21825											
ACAN	176	broad.mit.edu	37	15	89386881	89386881	+	Splice_Site	SNP	T	T	C			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr15:89386881T>C	ENST00000439576.2	+	6	1425		c.e6+2		ACAN_ENST00000558207.1_Splice_Site|ACAN_ENST00000561243.1_Splice_Site|ACAN_ENST00000352105.7_Splice_Site|ACAN_ENST00000559004.1_Splice_Site	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan						cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			GCTACACAGGTGGGGCACGGC	0.607													11	93					0	0	1	0	0	C	89386881	T	C	89386881	5	2	134	1	0	0	0	0	0	0	1	0	117	1710	59	3	1071	3	ACAN	15	89386881	Splice_Site	SNP	T	TCGA-DU-A5TU-01A-11D-A289-08	5013634	89386881	13144511	34	21826											
DNAH3	55567	broad.mit.edu	37	16	20975482	20975482	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr16:20975482T>C	ENST00000261383.3	-	53	9723	c.9724A>G	c.(9724-9726)Atc>Gtc	p.I3242V	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3242	AAA 5 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		ACCTCCAAGATCTTATCTTCA	0.463													7	110					0	0	1	0	0	C	20975482	T	C	20975482	3	2	134	1	0	0	0	0	1	0	0	0	4631	1435	50	3	2665	3	DNAH3	16	20975482	Missense_Mutation	SNP	T	TCGA-DU-A5TU-01A-11D-A289-08		20975482	69379271	35	21827											
WDR81	124997	broad.mit.edu	37	17	1636086	1636086	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr17:1636086A>G	ENST00000409644.1	+	6	4450	c.4450A>G	c.(4450-4452)Atg>Gtg	p.M1484V	WDR81_ENST00000419248.1_Missense_Mutation_p.M257V|WDR81_ENST00000446363.1_Missense_Mutation_p.M123V|WDR81_ENST00000437219.2_Missense_Mutation_p.M281V|WDR81_ENST00000309182.5_Missense_Mutation_p.M433V|WDR81_ENST00000545662.1_Missense_Mutation_p.M115V|RP11-961A15.1_ENST00000576540.1_RNA	NM_001163809.1	NP_001157281.1	B3KXU1	B3KXU1_HUMAN	WD repeat domain 81	257										cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		CACCCTGGAGATGGCATACAC	0.627													22	27					0	0	1	0	0	G	1636086	A	G	1636086	3	3	134	1	0	0	0	0	1	0	0	0	17390	333	12	3	4534	3	WDR81	17	1636086	Missense_Mutation	SNP	A	TCGA-DU-A5TU-01A-11D-A289-08		1636086	79559124	36	21828											
TP53	7157	broad.mit.edu	37	17	7578524	7578524	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr17:7578524G>C	ENST00000420246.2	-	5	538	c.406C>G	c.(406-408)Caa>Gaa	p.Q136E	TP53_ENST00000455263.2_Missense_Mutation_p.Q136E|TP53_ENST00000413465.2_Missense_Mutation_p.Q136E|TP53_ENST00000269305.4_Missense_Mutation_p.Q136E|TP53_ENST00000359597.4_Missense_Mutation_p.Q136E|TP53_ENST00000445888.2_Missense_Mutation_p.Q136E	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	136	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q -> E (in sporadic cancers; somatic mutation).|Q -> H (in sporadic cancers; somatic mutation).|Q -> K (in a sporadic cancer; somatic mutation).|Q -> P (in sporadic cancers; somatic mutation).|Q -> R (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.Q136*(34)|p.0?(8)|p.C135fs*9(3)|p.Q136E(3)|p.N131fs*27(2)|p.F134_T140>S(1)|p.K132_A138delKMFCQLA(1)|p.Q136K(1)|p.S127_Q136del10(1)|p.V73fs*9(1)|p.Q43*(1)|p.Y126fs*11(1)|p.Q4*(1)|p.C3fs*9(1)|p.C42fs*9(1)|p.C135_A138delCQLA(1)|p.Q136_K139delQLAK(1)|p.Q136fs*34(1)|p.C135_T140delCQLAKT(1)|p.Q136fs*13(1)|p.C135_Q136insXXXXXX(1)|p.C135_Q136insX(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)		TTGGCCAGTTGGCAAAACATC	0.562		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)			55	14					0	0	1	0	0	C	7578524	G	C	7578524	3	2	134	1	0	0	0	0	1	0	0	0	16442	1357	47	5	892	5	TP53	17	7578524	Missense_Mutation	SNP	G	TCGA-DU-A5TU-01A-11D-A289-08	5942438	7578524	73616686	37	21829											
MYH2	4620	broad.mit.edu	37	17	10431167	10431167	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr17:10431167T>C	ENST00000245503.5	-	28	4153	c.3769A>G	c.(3769-3771)Act>Gct	p.T1257A	MYH2_ENST00000532183.2_Intron|RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.T1257A|RP11-799N11.1_ENST00000581304.1_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1257					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						TCCTCTAGAGTCCGGCACATT	0.448													6	85					0	0	1	0	0	C	10431167	T	C	10431167	3	2	134	1	0	0	0	0	1	0	0	0	10083	1667	58	3	2108	3	MYH2	17	10431167	Missense_Mutation	SNP	T	TCGA-DU-A5TU-01A-11D-A289-08	2852643	10431167	70764043	38	21830											
KRT31	3881	broad.mit.edu	37	17	39552727	39552727	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr17:39552727G>A	ENST00000251645.2	-	3	585	c.533C>T	c.(532-534)gCc>gTc	p.A178V		NM_002277.2	NP_002268.2	Q15323	K1H1_HUMAN	keratin 31	178	Coil 1B.|Rod.				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	31		Breast(137;0.000496)				CTCCACCTGGGCCTCCAGGTC	0.587													27	57					0	0	1	0	0	A	39552727	G	A	39552727	3	1	134	1	0	0	0	0	1	0	0	0	8510	1203	42	2	737	2	KRT31	17	39552727	Missense_Mutation	SNP	G	TCGA-DU-A5TU-01A-11D-A289-08	29121560	39552727	41642483	39	21831											
TXNDC2	84203	broad.mit.edu	37	18	9886961	9886961	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr18:9886961G>A	ENST00000357775.5	+	2	519	c.284G>A	c.(283-285)gGc>gAc	p.G95D	TXNDC2_ENST00000306084.6_Missense_Mutation_p.G162D|TXNDC2_ENST00000536353.2_Missense_Mutation_p.G95D	NM_032243.5	NP_115619.4	Q86VQ3	TXND2_HUMAN	thioredoxin domain containing 2 (spermatozoa)						cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis	cytoplasm	electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						CCCAAGCTGGGCAATATTCCC	0.562													86	146					0	0	1	0	0	A	9886961	G	A	9886961	3	1	134	1	0	0	0	0	1	0	0	0	16859	1203	42	2	491	2	TXNDC2	18	9886961	Missense_Mutation	SNP	G	TCGA-DU-A5TU-01A-11D-A289-08		9886961	68190287	40	21832											
MAG	4099	broad.mit.edu	37	19	35793494	35793494	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr19:35793494G>A	ENST00000361922.4	+	7	1264	c.1114G>A	c.(1114-1116)Gag>Aag	p.E372K	MAG_ENST00000392213.3_Missense_Mutation_p.E372K|MAG_ENST00000537831.2_Missense_Mutation_p.E347K	NM_080600.2	NP_542167.1	P20916	MAG_HUMAN	myelin associated glycoprotein	372	Ig-like C2-type 3.				blood coagulation|cell adhesion|leukocyte migration|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane	sugar binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(11)|skin(2)|upper_aerodigestive_tract(2)	34	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			GGTCATCTACGAGAGCGAGCT	0.587													9	101					0	0	1	0	0	A	35793494	G	A	35793494	3	1	134	1	0	0	0	0	1	0	0	0	9208	1059	37	1	1132	1	MAG	19	35793494	Missense_Mutation	SNP	G	TCGA-DU-A5TU-01A-11D-A289-08		35793494	23335489	41	21833											
TEX101	83639	broad.mit.edu	37	19	43922452	43922452	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr19:43922452G>A	ENST00000602198.1	+	8	1149	c.707G>A	c.(706-708)cGa>cAa	p.R236Q	TEX101_ENST00000253435.7_Missense_Mutation_p.R236Q|TEX101_ENST00000598265.1_Missense_Mutation_p.R218Q|TEX101_ENST00000601707.1_3'UTR	NM_031451.4	NP_113639.4	Q9BY14	TX101_HUMAN	testis expressed 101	218						anchored to membrane|plasma membrane				large_intestine(1)|lung(12)|ovary(1)|skin(1)	15		Prostate(69;0.0199)				ACTCAACCTCGAAAGACTGAA	0.498													53	79					0	0	1	0	0	A	43922452	G	A	43922452	3	1	134	1	0	0	0	0	1	0	0	0	15832	1058	37	1	729	1	TEX101	19	43922452	Missense_Mutation	SNP	G	TCGA-DU-A5TU-01A-11D-A289-08	8128958	43922452	15206531	42	21834											
NFATC2	4773	broad.mit.edu	37	20	50091994	50091994	+	Splice_Site	SNP	C	C	T			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr20:50091994C>T	ENST00000371564.3	-	4	1755		c.e4+1		NFATC2_ENST00000610033.1_Splice_Site|NFATC2_ENST00000396009.3_Splice_Site|NFATC2_ENST00000609507.1_Splice_Site|NFATC2_ENST00000414705.1_Splice_Site|NFATC2_ENST00000609943.1_Splice_Site	NM_001258296.1|NM_012340.4	NP_001245225.1|NP_036472.2	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2						B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity		EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					CCAGCCCTTACGTTGCCCTCA	0.567													28	100					0	0	1	0	0	T	50091994	C	T	50091994	5	4	134	1	0	0	0	0	0	0	1	0	10409	550	19	1	1317	1	NFATC2	20	50091994	Splice_Site	SNP	C	TCGA-DU-A5TU-01A-11D-A289-08		50091994	12933526	43	21835											
TXNRD2	10587	broad.mit.edu	37	22	19868237	19868237	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr22:19868237G>A	ENST00000535882.1	-	13	1086	c.1087C>T	c.(1087-1089)Cgg>Tgg	p.R363W	TXNRD2_ENST00000400518.1_Missense_Mutation_p.R334W|TXNRD2_ENST00000542719.1_Missense_Mutation_p.R334W|TXNRD2_ENST00000400519.1_Missense_Mutation_p.R363W|TXNRD2_ENST00000400521.1_Missense_Mutation_p.R364W			Q9NNW7	TRXR2_HUMAN	thioredoxin reductase 2	364					cell redox homeostasis|response to oxygen radical	mitochondrion	flavin adenine dinucleotide binding|NADP binding|thioredoxin-disulfide reductase activity			breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|urinary_tract(2)	30	Colorectal(54;0.0993)					AGCTCAGGCCGCCCCTTGGGG	0.627													3	29					0	0	1	0	0	A	19868237	G	A	19868237	3	1	134	1	0	0	0	0	1	0	0	0	16870	1086	38	1	504	1	TXNRD2	22	19868237	Missense_Mutation	SNP	G	TCGA-DU-A5TU-01A-11D-A289-08		19868237	31436329	44	21836											
CRYBB2	1415	broad.mit.edu	37	22	25623853	25623853	+	Silent	SNP	C	C	T			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr22:25623853C>T	ENST00000398215.2	+	4	378	c.207C>T	c.(205-207)ggC>ggT	p.G69G		NM_000496.2	NP_000487.1	P43320	CRBB2_HUMAN	crystallin, beta B2	69	Beta/gamma crystallin 'Greek key' 2.				response to stimulus|visual perception		structural constituent of eye lens			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)	10						ACTGCAAGGGCGAGCAGTTTG	0.587													45	80					0	0	1	0	0	T	25623853	C	T	25623853	2	4	134	1	0	0	0	0	0	0	0	1	3934	755	27	1		1	CRYBB2	22	25623853	Silent	SNP	C	TCGA-DU-A5TU-01A-11D-A289-08	5755616	25623853	25680713	45	21837											
GAS2L1	10634	broad.mit.edu	37	22	29704343	29704343	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr22:29704343G>A	ENST00000471961.1	+	1	1296	c.248G>A	c.(247-249)cGa>cAa	p.R83Q	GAS2L1_ENST00000407854.1_Missense_Mutation_p.R83Q|GAS2L1_ENST00000403764.1_Missense_Mutation_p.R83Q|GAS2L1_ENST00000360113.2_Missense_Mutation_p.R83Q|GAS2L1_ENST00000407647.2_Missense_Mutation_p.R83Q|GAS2L1_ENST00000341313.6_Missense_Mutation_p.R83Q|GAS2L1_ENST00000406549.3_Missense_Mutation_p.R83Q			Q99501	GA2L1_HUMAN	growth arrest-specific 2 like 1	83	CH.				cell cycle arrest	cytoplasm|cytoskeleton				endometrium(2)|lung(2)|prostate(1)	5						CGCCCGGCCCGAGGTGTGGCC	0.692													6	24					0	0	1	0	0	A	29704343	G	A	29704343	3	1	134	1	0	0	0	0	1	0	0	0	6286	1058	37	1	250	1	GAS2L1	22	29704343	Missense_Mutation	SNP	G	TCGA-DU-A5TU-01A-11D-A289-08	4080490	29704343	21600223	46	21838											
ATRX	546	broad.mit.edu	37	X	76778782	76778782	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chrX:76778782delA	ENST00000373344.5	-	31	7011	c.6797delT	c.(6796-6798)ttgfs	p.L2266fs	ATRX_ENST00000395603.3_Frame_Shift_Del_p.L2228fs|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	2266					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			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)	TTCTTCAGTCAACTCTTCTTC	0.373			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						48	148	---	---	---	---						-	76778782	A	-	76778782	7	5	134	1	0	1	0	1	0	0	0	0	1206	131	5	0	701	0	ATRX	23	76778782	Frame_Shift_Del	DEL	A	TCGA-DU-A5TU-01A-11D-A289-08		76778782	78491778	47	21839											
ZNF711	7552	broad.mit.edu	37	X	84525047	84525047	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chrX:84525047A>G	ENST00000360700.4	+	9	2027	c.1141A>G	c.(1141-1143)Aca>Gca	p.T381A	ZNF711_ENST00000542798.1_Missense_Mutation_p.T177A|ZNF711_ENST00000373165.3_Missense_Mutation_p.T335A|ZNF711_ENST00000276123.3_Missense_Mutation_p.T335A|ZNF711_ENST00000395402.1_Missense_Mutation_p.T343A			Q9Y462	ZN711_HUMAN	zinc finger protein 711	335					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(3)|skin(4)	28						CAGAAGTAGTACAGCAGCACA	0.348													19	53					0	0	1	0	0	G	84525047	A	G	84525047	3	3	134	1	0	0	0	0	1	0	0	0	18172	391	14	3	1025	3	ZNF711	23	84525047	Missense_Mutation	SNP	A	TCGA-DU-A5TU-01A-11D-A289-08	7746265	84525047	70745513	48	21840											
DCAF12L2	340578	broad.mit.edu	37	X	125298904	125298904	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chrX:125298904C>G	ENST00000538699.1	-	2	1084	c.1004G>C	c.(1003-1005)cGc>cCc	p.R335P	DCAF12L2_ENST00000360028.2_Missense_Mutation_p.R335P	NM_001013628.2	NP_001013650.1	Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	335								p.R335H(1)		NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						CTGGCGCTGGCGCGGATCCAG	0.627													11	158					0	0	1	0	0	G	125298904	C	G	125298904	3	3	134	1	0	0	0	0	1	0	0	0	4289	768	27	5	391	5	DCAF12L2	23	125298904	Missense_Mutation	SNP	C	TCGA-DU-A5TU-01A-11D-A289-08	40773857	125298904	29971656	49	21841											
MAGEA8	4107	broad.mit.edu	37	X	149013642	149013642	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chrX:149013642C>A	ENST00000535454.1	+	4	1145	c.596C>A	c.(595-597)aCg>aAg	p.T199K	MAGEA8_ENST00000286482.1_Missense_Mutation_p.T199K|MAGEA8_ENST00000542674.1_Missense_Mutation_p.T199K	NM_001166400.1	NP_001159872.1	P43361	MAGA8_HUMAN	melanoma antigen family A, 8	199	MAGE.									NS(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(12)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(192;6.56e-05)					GATCAGAGTACGCCCAAGACC	0.592													35	60					2.47316e-13	2.6901e-13	1	1	0	A	149013642	C	A	149013642	3	1	134	1	0	0	0	0	1	0	0	0	9219	536	19	5	598	5	MAGEA8	23	149013642	Missense_Mutation	SNP	C	TCGA-DU-A5TU-01A-11D-A289-08	23714738	149013642	6256918	50	21842											
HCFC1	3054	broad.mit.edu	37	X	153225450	153225450	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chrX:153225450G>C	ENST00000310441.7	-	8	2213	c.1247C>G	c.(1246-1248)cCg>cGg	p.P416R	HCFC1_ENST00000369984.4_Missense_Mutation_p.P416R|HCFC1_ENST00000354233.3_Intron	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1 (VP16-accessory protein)	416					cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					AGATGGGACCGGATTGGGTGT	0.637													32	104					0	0	1	0	0	C	153225450	G	C	153225450	3	2	134	1	0	0	0	0	1	0	0	0	7032	1116	39	5	4936	5	HCFC1	23	153225450	Missense_Mutation	SNP	G	TCGA-DU-A5TU-01A-11D-A289-08	4211808	153225450	2045110	51	21843											
NOC2L	26155	broad.mit.edu	37	1	883983	883983	+	Splice_Site	SNP	T	T	C			TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chr1:883983T>C	ENST00000327044.6	-	13	1493	c.1444A>G	c.(1444-1446)Atg>Gtg	p.M482V		NM_015658.3	NP_056473	Q9Y3T9	NOC2L_HUMAN	nucleolar complex associated 2 homolog (S. cerevisiae)	482						nucleolus	protein binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	16	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.86e-38)|OV - Ovarian serous cystadenocarcinoma(86;6.08e-23)|Colorectal(212;0.000161)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(365;0.000475)|Kidney(185;0.00231)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)		TGCTGGAACATCTGCCCCAAG	0.622													17	21					0	0	1	0	0	C	883983	T	C	883983	5	2	135	1	0	0	0	0	0	0	1	0	10560	1449	50	3	833	3	NOC2L	1	883983	Splice_Site	SNP	T	TCGA-DU-A5TW-01A-11D-A289-08		883983	248366638	1	21844											
FLG	2312	broad.mit.edu	37	1	152283914	152283914	+	Silent	SNP	G	G	T			TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chr1:152283914G>T	ENST00000368799.1	-	3	3483	c.3448C>A	c.(3448-3450)Cga>Aga	p.R1150R	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1150	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GAGCTGTCTCGTGCCTGCTCG	0.597									Ichthyosis				12	414					3.07112e-06	3.35775e-06	1	1	0	T	152283914	G	T	152283914	2	4	135	1	0	0	0	0	0	0	0	1	5955	1153	40	5		5	FLG	1	152283914	Silent	SNP	G	TCGA-DU-A5TW-01A-11D-A289-08	151399931	152283914	96966707	2	21845											
PBXIP1	57326	broad.mit.edu	37	1	154918277	154918277	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chr1:154918277G>A	ENST00000368463.3	-	10	1944	c.1873C>T	c.(1873-1875)Cgg>Tgg	p.R625W	PBXIP1_ENST00000368465.1_Missense_Mutation_p.R596W|PBXIP1_ENST00000539880.1_Missense_Mutation_p.R452W|PBXIP1_ENST00000542459.1_Missense_Mutation_p.R470W	NM_020524.2	NP_065385.2	Q96AQ6	PBIP1_HUMAN	pre-B-cell leukemia homeobox interacting protein 1	625					cell differentiation|multicellular organismal development|negative regulation of transcription, DNA-dependent	cytosol|microtubule|nucleus	protein binding|transcription corepressor activity			breast(1)|kidney(2)|large_intestine(6)|lung(13)|prostate(1)|urinary_tract(1)	24	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			CAGGGCAGCCGTGCCAAGTAT	0.617													10	100					0	0	1	0	0	A	154918277	G	A	154918277	3	1	135	1	0	0	0	0	1	0	0	0	11543	1144	40	1	330	1	PBXIP1	1	154918277	Missense_Mutation	SNP	G	TCGA-DU-A5TW-01A-11D-A289-08	2634363	154918277	94332344	3	21846											
RASSF5	83593	broad.mit.edu	37	1	206711607	206711607	+	Silent	SNP	C	C	T	rs138095666		TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chr1:206711607C>T	ENST00000355294.4	+	2	621	c.564C>T	c.(562-564)acC>acT	p.T188T	RASSF5_ENST00000367117.3_Silent_p.T188T	NM_182663.2	NP_872604.1	Q8WWW0	RASF5_HUMAN	Ras association (RalGDS/AF-6) domain family member 5	188					apoptosis|intracellular signal transduction	cytoplasm|microtubule	metal ion binding|protein binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	8	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.166)			GCACCCTCACCGTGACCTTCA	0.592													68	97					0	0	1	0	0	T	206711607	C	T	206711607	2	4	135	1	0	0	0	0	0	0	0	1	13141	639	23	1		1	RASSF5	1	206711607	Silent	SNP	C	TCGA-DU-A5TW-01A-11D-A289-08	51793330	206711607	42539014	4	21847											
ARID5A	10865	broad.mit.edu	37	2	97217809	97217809	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chr2:97217809C>T	ENST00000454558.2	+	7	2517	c.1340C>T	c.(1339-1341)cCg>cTg	p.P447L	ARID5A_ENST00000357485.3_Missense_Mutation_p.P515L			Q03989	ARI5A_HUMAN	AT rich interactive domain 5A (MRF1-like)	515					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|skin(1)|urinary_tract(2)	14						ACTGGCACCCCGGGCCCCTTG	0.721													46	66					0	0	1	0	0	T	97217809	C	T	97217809	3	4	135	1	0	0	0	0	1	0	0	0	918	652	23	1	1570	1	ARID5A	2	97217809	Missense_Mutation	SNP	C	TCGA-DU-A5TW-01A-11D-A289-08		97217809	145981564	5	21848											
CKAP2L	150468	broad.mit.edu	37	2	113513832	113513832	+	Silent	SNP	T	T	G			TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chr2:113513832T>G	ENST00000541405.1	-	4	1144	c.621A>C	c.(619-621)tcA>tcC	p.S207S	CKAP2L_ENST00000302450.6_Silent_p.S372S			Q8IYA6	CKP2L_HUMAN	cytoskeleton associated protein 2-like	372						centrosome				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	28						TTATGGCTTTTGACTTTTGCA	0.418													5	115					0	0	1	0	0	G	113513832	T	G	113513832	2	3	135	1	0	0	0	0	0	0	0	1	3466	1799	63	5		5	CKAP2L	2	113513832	Silent	SNP	T	TCGA-DU-A5TW-01A-11D-A289-08	16296023	113513832	129685541	6	21849											
TTN	7273	broad.mit.edu	37	2	179517223	179517223	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chr2:179517223G>A	ENST00000589042.1	-	202	39313	c.39089C>T	c.(39088-39090)gCg>gTg	p.A13030V	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A10596V|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.A11523V|TTN_ENST00000359218.5_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	11384	Ig-like 86.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGGAGGAGCCGCTGGCACTTT	0.378													11	178					0	0	1	0	0	A	179517223	G	A	179517223	3	1	135	1	0	0	0	0	1	0	0	0	16797	1087	38	1	68826	1	TTN	2	179517223	Missense_Mutation	SNP	G	TCGA-DU-A5TW-01A-11D-A289-08	66003391	179517223	63682150	7	21850											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	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	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								29	29					0	0	1	0	0	T	209113112	C	T	209113112	3	4	135	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-DU-A5TW-01A-11D-A289-08	29595889	209113112	34086261	8	21851											
NEU4	129807	broad.mit.edu	37	2	242755717	242755717	+	Silent	SNP	C	C	T			TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chr2:242755717C>T	ENST00000391969.2	+	3	747	c.36C>T	c.(34-36)ctC>ctT	p.L12L	NEU4_ENST00000325935.6_Silent_p.L25L|NEU4_ENST00000405370.1_Silent_p.L12L|NEU4_ENST00000404257.1_Silent_p.L24L|NEU4_ENST00000407683.1_Silent_p.L12L	NM_001167602.1	NP_001161074.1	Q8WWR8	NEUR4_HUMAN	sialidase 4	12						lysosomal lumen|organelle inner membrane	exo-alpha-sialidase activity|protein binding			breast(1)|lung(10)|prostate(2)|skin(2)	15		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0825)		GGACAGTGCTCTTCGAGCGGG	0.697													9	44					0	0	1	0	0	T	242755717	C	T	242755717	2	4	135	1	0	0	0	0	0	0	0	1	10391	900	32	2		2	NEU4	2	242755717	Silent	SNP	C	TCGA-DU-A5TW-01A-11D-A289-08	33642605	242755717	443656	9	21852											
ACPP	55	broad.mit.edu	37	3	132051153	132051153	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chr3:132051153A>G	ENST00000336375.5	+	4	511	c.421A>G	c.(421-423)Atc>Gtc	p.I141V	ACPP_ENST00000351273.7_Missense_Mutation_p.I141V|ACPP_ENST00000475741.1_Missense_Mutation_p.I141V|ACPP_ENST00000489084.1_3'UTR	NM_001099.4	NP_001090.2	P15309	PPAP_HUMAN	acid phosphatase, prostate	141						extracellular region|lysosomal membrane	5'-nucleotidase activity|acid phosphatase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(5)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	27						CTGGCAGCCCATCCCGGTGCA	0.507													42	56					0	0	1	0	0	G	132051153	A	G	132051153	3	3	135	1	0	0	0	0	1	0	0	0	167	217	8	3	435	3	ACPP	3	132051153	Missense_Mutation	SNP	A	TCGA-DU-A5TW-01A-11D-A289-08		132051153	65971277	10	21853											
NCK1	4690	broad.mit.edu	37	3	136646967	136646967	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chr3:136646967C>T	ENST00000481752.1	+	2	288	c.124C>T	c.(124-126)Cga>Tga	p.R42*	NCK1_ENST00000288986.2_Nonsense_Mutation_p.R42*			P16333	NCK1_HUMAN	NCK adaptor protein 1	42	SH3 1.				axon guidance|positive regulation of actin filament polymerization|positive regulation of T cell proliferation|regulation of translation|signal complex assembly|T cell activation|T cell receptor signaling pathway	cytosol|endoplasmic reticulum|nucleus	cytoskeletal adaptor activity|receptor binding|receptor signaling complex scaffold activity			cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	13						GTGGCGAGTTCGAAATTCCAT	0.393													15	99					0	0	1	0	0	T	136646967	C	T	136646967	4	4	135	1	0	0	0	0	0	1	0	0	10266	876	31	1	126	1	NCK1	3	136646967	Nonsense_Mutation	SNP	C	TCGA-DU-A5TW-01A-11D-A289-08	4595814	136646967	61375463	11	21854											
JAKMIP1	152789	broad.mit.edu	37	4	6107435	6107435	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chr4:6107435G>A	ENST00000409021.3	-	3	838	c.389C>T	c.(388-390)aCg>aTg	p.T130M	JAKMIP1_ENST00000409371.3_Intron|JAKMIP1_ENST00000457227.2_Intron|JAKMIP1_ENST00000282924.5_Missense_Mutation_p.T130M|JAKMIP1_ENST00000410077.2_Intron|JAKMIP1_ENST00000409831.1_Missense_Mutation_p.T130M	NM_001099433.1	NP_001092903.1	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein 1	130	Mediates association with microtubules.				protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding			NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CAGCAGCGCCGTCTTGACCTT	0.716													3	23					0	0	1	0	0	A	6107435	G	A	6107435	3	1	135	1	0	0	0	0	1	0	0	0	7984	1145	40	1	2257	1	JAKMIP1	4	6107435	Missense_Mutation	SNP	G	TCGA-DU-A5TW-01A-11D-A289-08		6107435	185046841	12	21855											
MUC7	4589	broad.mit.edu	37	4	71347104	71347104	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chr4:71347104C>T	ENST00000413702.1	+	4	931	c.643C>T	c.(643-645)Cca>Tca	p.P215S	MUC7_ENST00000456088.1_Missense_Mutation_p.P215S|MUC7_ENST00000304887.5_Missense_Mutation_p.P215S	NM_001145006.1	NP_001138478.1	Q8TAX7	MUC7_HUMAN	mucin 7, secreted	215	Thr-rich.					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)			CACAGCTGCCCCACCCACACC	0.597													105	71					0	0	1	0	0	T	71347104	C	T	71347104	3	4	135	1	0	0	0	0	1	0	0	0	10029	623	22	2	649	2	MUC7	4	71347104	Missense_Mutation	SNP	C	TCGA-DU-A5TW-01A-11D-A289-08	65239669	71347104	119807172	13	21856											
ANKRD17	26057	broad.mit.edu	37	4	74021734	74021734	+	Splice_Site	SNP	A	A	G			TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chr4:74021734A>G	ENST00000358602.4	-	4	969		c.e4+1		ANKRD17_ENST00000509867.2_Splice_Site|ANKRD17_ENST00000330838.6_Splice_Site	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17						interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GATAATACGAACCTGTGCAAG	0.353													26	51					0	0	1	0	0	G	74021734	A	G	74021734	5	3	135	1	0	0	0	0	0	0	1	0	642	57	2	3	7081	3	ANKRD17	4	74021734	Splice_Site	SNP	A	TCGA-DU-A5TW-01A-11D-A289-08	2674630	74021734	117132542	14	21857											
ADH1C	126	broad.mit.edu	37	4	100260764	100260766	+	RNA	DEL	TCA	TCA	-			TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chr4:100260764_100260766delTCA	ENST00000515683.1	-	0	1422_1424					NM_000669.3	NP_000660.1	P00326	ADH1G_HUMAN	alcohol dehydrogenase 1C (class I), gamma polypeptide						ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|zinc ion binding								OV - Ovarian serous cystadenocarcinoma(123;1.08e-07)	Fomepizole(DB01213)|NADH(DB00157)	GTCAAATCCTTCATTTATTTTTT	0.394													12	57	---	---	---	---						-	100260766	TCA	-	100260764	6	5	135	0	1	1	0	1	0	0	0	0	308	1783	62	0		0	ADH1C	4	100260764	RNA	DEL	TCA	TCGA-DU-A5TW-01A-11D-A289-08	26239030	100260764	90893512	15	21858											
DNAH5	1767	broad.mit.edu	37	5	13867993	13867993	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chr5:13867993C>T	ENST00000265104.4	-	25	4047	c.3943G>A	c.(3943-3945)Gaa>Aaa	p.E1315K	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1315	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TTCTGGACTTCGCCAGCACGT	0.453									Kartagener syndrome				20	79					0	0	1	0	0	T	13867993	C	T	13867993	3	4	135	1	0	0	0	0	1	0	0	0	4632	893	31	1	10151	1	DNAH5	5	13867993	Missense_Mutation	SNP	C	TCGA-DU-A5TW-01A-11D-A289-08		13867993	167047267	16	21859											
NLN	57486	broad.mit.edu	37	5	65118664	65118664	+	Missense_Mutation	SNP	T	T	C	rs149642804	by1000genomes	TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chr5:65118664T>C	ENST00000380985.5	+	13	2214	c.2036T>C	c.(2035-2037)aTg>aCg	p.M679T	NLN_ENST00000502464.1_Missense_Mutation_p.M575T|NLN_ENST00000515595.1_3'UTR	NM_020726.4	NP_065777.1	Q9BYT8	NEUL_HUMAN	neurolysin (metallopeptidase M3 family)	679					proteolysis	mitochondrial intermembrane space	metal ion binding|metalloendopeptidase activity			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	26		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0743)|Lung(70;0.00616)		CTGGACGGCATGGACATGCTC	0.433													70	60					0	0	1	0	0	C	65118664	T	C	65118664	3	2	135	1	0	0	0	0	1	0	0	0	10514	1464	51	3	2086	3	NLN	5	65118664	Missense_Mutation	SNP	T	TCGA-DU-A5TW-01A-11D-A289-08	51250671	65118664	115796596	17	21860											
HSPA9	3313	broad.mit.edu	37	5	137906680	137906680	+	Nonsense_Mutation	SNP	G	G	A	rs35091799		TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chr5:137906680G>A	ENST00000297185.3	-	4	504	c.379C>T	c.(379-381)Cga>Tga	p.R127*		NM_004134.6	NP_004125.3	P38646	GRP75_HUMAN	heat shock 70kDa protein 9 (mortalin)	127			R -> G (in dbSNP:rs35091799).		anti-apoptosis|protein folding	cell surface|mitochondrial nucleoid	ATP binding|unfolded protein binding			breast(2)|endometrium(1)|kidney(4)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(1)	28			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			TCATCATATCGCCGGCCAATG	0.463													14	127					0	0	1	0	0	A	137906680	G	A	137906680	4	1	135	1	0	0	0	0	0	1	0	0	7460	1095	38	1	1716	1	HSPA9	5	137906680	Nonsense_Mutation	SNP	G	TCGA-DU-A5TW-01A-11D-A289-08	72788016	137906680	43008580	18	21861											
RNF8	9025	broad.mit.edu	37	6	37339288	37339288	+	Splice_Site	SNP	G	G	T			TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chr6:37339288G>T	ENST00000373479.4	+	4	1169	c.976G>T	c.(976-978)Ggt>Tgt	p.G326C	RNF8_ENST00000469731.1_Splice_Site_p.G326C	NM_003958.3|NM_183078.2	NP_003949.1|NP_898901.1	O76064	RNF8_HUMAN	ring finger protein 8, E3 ubiquitin protein ligase	326	Gln-rich.				cell division|double-strand break repair|histone H2A ubiquitination|histone H2B ubiquitination|mitosis|positive regulation of DNA repair|response to ionizing radiation	midbody|nucleus|ubiquitin ligase complex	chromatin binding|histone binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	13						GGCTTTGCAGGGTTTGGAGAT	0.468													7	64					1.26484e-09	1.44052e-09	1	1	0	T	37339288	G	T	37339288	5	4	135	1	0	0	0	0	0	0	1	0	13552	1246	43	5	990	5	RNF8	6	37339288	Splice_Site	SNP	G	TCGA-DU-A5TW-01A-11D-A289-08		37339288	133775779	19	21862											
NCF1	653361	broad.mit.edu	37	7	74203029	74203029	+	Silent	SNP	G	G	A			TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chr7:74203029G>A	ENST00000289473.4	+	10	1102	c.1032G>A	c.(1030-1032)caG>caA	p.Q344Q		NM_000265.4	NP_000256.4	P14598	NCF1_HUMAN	neutrophil cytosolic factor 1	344	Arg/Lys-rich (highly basic).				cell communication|cellular defense response|innate immune response|protein targeting to membrane|respiratory burst|superoxide anion generation	cytosol|NADPH oxidase complex|soluble fraction	electron carrier activity|GTP binding|GTPase activity|phosphatidylinositol binding|SH3 domain binding|superoxide-generating NADPH oxidase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|skin(3)	10						CGGGACCGCAGAGCCCCGGGA	0.726													5	14					0	0	1	0	0	A	74203029	G	A	74203029	2	1	135	1	0	0	0	0	0	0	0	1	10263	933	33	2		2	NCF1	7	74203029	Silent	SNP	G	TCGA-DU-A5TW-01A-11D-A289-08		74203029	84935634	20	21863											
MUC17	140453	broad.mit.edu	37	7	100676715	100676715	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chr7:100676715C>T	ENST00000306151.4	+	3	2082	c.2018C>T	c.(2017-2019)gCg>gTg	p.A673V		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	673	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TCTACAACTGCGGAAGGTACC	0.502													75	883					0	0	1	0	0	T	100676715	C	T	100676715	3	4	135	1	0	0	0	0	1	0	0	0	10022	768	27	1	2028	1	MUC17	7	100676715	Missense_Mutation	SNP	C	TCGA-DU-A5TW-01A-11D-A289-08	26473686	100676715	58461948	21	21864											
PIK3CG	5294	broad.mit.edu	37	7	106509439	106509439	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chr7:106509439G>A	ENST00000359195.3	+	2	1743	c.1433G>A	c.(1432-1434)gGa>gAa	p.G478E	PIK3CG_ENST00000440650.2_Missense_Mutation_p.G478E|PIK3CG_ENST00000496166.1_Missense_Mutation_p.G478E	NM_001282427.1|NM_002649.2	NP_001269356.1|NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	478					G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						CTGCGCCGTGGAGAATACGTC	0.522													6	242					0	0	1	0	0	A	106509439	G	A	106509439	3	1	135	1	0	0	0	0	1	0	0	0	11964	1174	41	2	1435	2	PIK3CG	7	106509439	Missense_Mutation	SNP	G	TCGA-DU-A5TW-01A-11D-A289-08	5832724	106509439	52629224	22	21865											
LMOD2	442721	broad.mit.edu	37	7	123302314	123302314	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chr7:123302314C>A	ENST00000458573.2	+	2	831	c.674C>A	c.(673-675)aCa>aAa	p.T225K	LMOD2_ENST00000456238.2_Intron	NM_207163.1	NP_997046.1	Q6P5Q4	LMOD2_HUMAN	leiomodin 2 (cardiac)	225						cytoskeleton	actin binding|tropomyosin binding										GAGAACATCACAACACAGACC	0.488													9	70					0.000673444	0.000717174	1	1	0	A	123302314	C	A	123302314	3	1	135	1	0	0	0	0	1	0	0	0	8898	478	17	5	680	5	LMOD2	7	123302314	Missense_Mutation	SNP	C	TCGA-DU-A5TW-01A-11D-A289-08	16792875	123302314	35836349	23	21866											
EPPK1	83481	broad.mit.edu	37	8	144940353	144940353	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chr8:144940353C>T	ENST00000525985.1	-	2	7140	c.7069G>A	c.(7069-7071)Gtg>Atg	p.V2357M				P58107	EPIPL_HUMAN	epiplakin 1	2357						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)			TCCACGGGCACGCGGTGGCTG	0.692													14	923					0	0	1	0	0	T	144940353	C	T	144940353	3	4	135	1	0	0	0	0	1	0	0	0	5218	536	19	1	197	1	EPPK1	8	144940353	Missense_Mutation	SNP	C	TCGA-DU-A5TW-01A-11D-A289-08		144940353	1423669	24	21867											
EPPK1	83481	broad.mit.edu	37	8	144940844	144940844	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chr8:144940844G>A	ENST00000525985.1	-	2	6649	c.6578C>T	c.(6577-6579)aCg>aTg	p.T2193M				P58107	EPIPL_HUMAN	epiplakin 1	2193						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)			CATTTCCTCCGTGATTATGGC	0.552													86	298					0	0	1	0	0	A	144940844	G	A	144940844	3	1	135	1	0	0	0	0	1	0	0	0	5218	1145	40	1	688	1	EPPK1	8	144940844	Missense_Mutation	SNP	G	TCGA-DU-A5TW-01A-11D-A289-08	491	144940844	1423178	25	21868											
SVEP1	79987	broad.mit.edu	37	9	113170752	113170752	+	Silent	SNP	A	A	G			TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chr9:113170752A>G	ENST00000401783.2	-	38	7464	c.7128T>C	c.(7126-7128)tgT>tgC	p.C2376C	SVEP1_ENST00000297826.5_Silent_p.C302C|SVEP1_ENST00000374469.1_Silent_p.C2353C	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	2376	Sushi 16.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						GAACAATCTTACAAACAGGGA	0.453													5	39					0	0	1	0	0	G	113170752	A	G	113170752	2	3	135	1	0	0	0	0	0	0	0	1	15476	389	14	3		3	SVEP1	9	113170752	Silent	SNP	A	TCGA-DU-A5TW-01A-11D-A289-08		113170752	28042679	26	21869											
DDX31	64794	broad.mit.edu	37	9	135535105	135535105	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chr9:135535105G>A	ENST00000372159.3	-	5	981	c.830C>T	c.(829-831)aCg>aTg	p.T277M	DDX31_ENST00000480876.1_5'UTR|DDX31_ENST00000438527.3_Missense_Mutation_p.T148M|DDX31_ENST00000372153.1_Missense_Mutation_p.T277M|DDX31_ENST00000310532.2_Missense_Mutation_p.T277M	NM_022779.7	NP_073616.6	Q9H8H2	DDX31_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 31	277	Helicase ATP-binding.					nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	27				OV - Ovarian serous cystadenocarcinoma(145;2.67e-06)|Epithelial(140;7.61e-05)		ACCTGAGCCCGTCTGGGATCT	0.498													5	17					0	0	1	0	0	A	135535105	G	A	135535105	3	1	135	1	0	0	0	0	1	0	0	0	4379	1145	40	1	1796	1	DDX31	9	135535105	Missense_Mutation	SNP	G	TCGA-DU-A5TW-01A-11D-A289-08	22364353	135535105	5678326	27	21870											
IL2RA	3559	broad.mit.edu	37	10	6061422	6061422	+	Silent	SNP	C	C	T			TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chr10:6061422C>T	ENST00000379959.3	-	6	869	c.696G>A	c.(694-696)acG>acA	p.T232T	IL2RA_ENST00000256876.6_Silent_p.T223T|IL2RA_ENST00000379954.1_Silent_p.T160T	NM_000417.2	NP_000408.1	P01589	IL2RA_HUMAN	interleukin 2 receptor, alpha	232					cell proliferation	integral to membrane	interleukin-2 receptor activity			endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	17					Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)	TAAATATGGACGTCTCCATGG	0.468													31	79					0	0	1	0	0	T	6061422	C	T	6061422	2	4	135	1	0	0	0	0	0	0	0	1	7730	523	19	1		1	IL2RA	10	6061422	Silent	SNP	C	TCGA-DU-A5TW-01A-11D-A289-08		6061422	129473325	28	21871											
SUPV3L1	6832	broad.mit.edu	37	10	70940084	70940084	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chr10:70940084C>T	ENST00000359655.4	+	1	97	c.37C>T	c.(37-39)Ccg>Tcg	p.P13S	SUPV3L1_ENST00000483572.1_3'UTR	NM_003171.3	NP_003162.2	Q8IYB8	SUV3_HUMAN	suppressor of var1, 3-like 1 (S. cerevisiae)	13					DNA duplex unwinding	mitochondrial nucleoid|nucleus	ATP binding|DNA binding|DNA helicase activity|RNA binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GGCTCGGCTCCCGGCGGGGCG	0.687													12	73					0	0	1	0	0	T	70940084	C	T	70940084	3	4	135	1	0	0	0	0	1	0	0	0	15458	623	22	2	39	2	SUPV3L1	10	70940084	Missense_Mutation	SNP	C	TCGA-DU-A5TW-01A-11D-A289-08	64878662	70940084	64594663	29	21872											
TRUB1	142940	broad.mit.edu	37	10	116710901	116710901	+	Missense_Mutation	SNP	G	G	T	rs139774976		TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chr10:116710901G>T	ENST00000298746.3	+	3	495	c.434G>T	c.(433-435)gGg>gTg	p.G145V	TRUB1_ENST00000485065.1_3'UTR	NM_139169.4	NP_631908.1	Q8WWH5	TRUB1_HUMAN	TruB pseudouridine (psi) synthase family member 1	145					pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding			breast(2)|kidney(2)|large_intestine(1)|lung(5)|urinary_tract(2)	12		Colorectal(252;0.09)|Breast(234;0.174)|Lung NSC(174;0.245)		Epithelial(162;0.00879)|all cancers(201;0.0243)		ATGTTGTCAGGGTCCAAGGTA	0.299													17	80					2.94398e-08	3.30694e-08	1	1	0	T	116710901	G	T	116710901	3	4	135	1	0	0	0	0	1	0	0	0	16663	1232	43	5	444	5	TRUB1	10	116710901	Missense_Mutation	SNP	G	TCGA-DU-A5TW-01A-11D-A289-08	45770817	116710901	18823846	30	21873											
TEAD1	7003	broad.mit.edu	37	11	12886385	12886385	+	Splice_Site	SNP	G	G	A			TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chr11:12886385G>A	ENST00000361905.4	+	5	888	c.223G>A	c.(223-225)Gtg>Atg	p.V75M	TEAD1_ENST00000361985.2_Splice_Site_p.V90M|TEAD1_ENST00000527575.1_Splice_Site_p.V90M|TEAD1_ENST00000334310.6_Splice_Site_p.V75M|TEAD1_ENST00000527636.1_Splice_Site_p.V90M	NM_021961.5	NP_068780.2	P28347	TEAD1_HUMAN	TEA domain family member 1 (SV40 transcriptional enhancer factor)	90					hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)	17				Epithelial(150;0.00223)|BRCA - Breast invasive adenocarcinoma(625;0.236)		TACCCTGCAGGTGTCTAGTCA	0.478													8	102					0	0	1	0	0	A	12886385	G	A	12886385	5	1	135	1	0	0	0	0	0	0	1	0	15797	1275	44	2	278	2	TEAD1	11	12886385	Splice_Site	SNP	G	TCGA-DU-A5TW-01A-11D-A289-08		12886385	122120131	31	21874											
INSC	387755	broad.mit.edu	37	11	15222447	15222447	+	Silent	SNP	G	G	A			TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chr11:15222447G>A	ENST00000379554.3	+	7	958	c.912G>A	c.(910-912)acG>acA	p.T304T	INSC_ENST00000379556.3_Silent_p.T257T|INSC_ENST00000528567.1_Silent_p.T257T|INSC_ENST00000424273.1_Intron|INSC_ENST00000447214.2_Intron|INSC_ENST00000525218.1_Intron|INSC_ENST00000530161.1_Silent_p.T257T	NM_001031853.3	NP_001027024.3	Q1MX18	INSC_HUMAN	inscuteable homolog (Drosophila)	304					cell differentiation|nervous system development	cytoplasm	binding			NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(3)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						CGCTCCGCACGCTGGCCTCCA	0.612													3	32					0	0	1	0	0	A	15222447	G	A	15222447	2	1	135	1	0	0	0	0	0	0	0	1	7808	1074	38	1		1	INSC	11	15222447	Silent	SNP	G	TCGA-DU-A5TW-01A-11D-A289-08	2336062	15222447	119784069	32	21875											
ACCS	84680	broad.mit.edu	37	11	44089249	44089249	+	Silent	SNP	G	G	T			TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chr11:44089249G>T	ENST00000263776.8	+	2	506	c.72G>T	c.(70-72)ctG>ctT	p.L24L	ACCS_ENST00000533208.1_3'UTR|ACCS_ENST00000432284.2_Silent_p.L24L	NM_001127219.1|NM_032592.3	NP_001120691.1|NP_115981.1	Q96QU6	1A1L1_HUMAN	1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)	24							1-aminocyclopropane-1-carboxylate synthase activity|protein homodimerization activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			breast(4)|endometrium(3)|large_intestine(11)|lung(15)|ovary(1)|skin(1)	35						TGCAGGACCTGGGCAGTAGCC	0.567													19	69					3.99206e-14	4.61054e-14	1	1	0	T	44089249	G	T	44089249	2	4	135	1	0	0	0	0	0	0	0	1	133	1335	47	5		5	ACCS	11	44089249	Silent	SNP	G	TCGA-DU-A5TW-01A-11D-A289-08	28866802	44089249	90917267	33	21876											
CHST1	8534	broad.mit.edu	37	11	45672219	45672219	+	Silent	SNP	G	G	A			TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chr11:45672219G>A	ENST00000308064.2	-	4	925	c.255C>T	c.(253-255)gaC>gaT	p.D85D		NM_003654.5	NP_003645.1	O43916	CHST1_HUMAN	carbohydrate (keratan sulfate Gal-6) sulfotransferase 1	85					galactose metabolic process|inflammatory response|keratan sulfate metabolic process	Golgi membrane|integral to membrane	keratan sulfotransferase activity			breast(1)|endometrium(3)|large_intestine(10)|lung(17)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781)		GGTAGAAGACGTCCAGGTGCT	0.642													22	100					0	0	1	0	0	A	45672219	G	A	45672219	2	1	135	1	0	0	0	0	0	0	0	1	3419	1136	40	1		1	CHST1	11	45672219	Silent	SNP	G	TCGA-DU-A5TW-01A-11D-A289-08	1582970	45672219	89334297	34	21877											
VEGFB	7423	broad.mit.edu	37	11	64005040	64005040	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chr11:64005040A>C	ENST00000309422.2	+	6	855	c.559A>C	c.(559-561)Acc>Ccc	p.T187P	VEGFB_ENST00000426086.2_Missense_Mutation_p.D153A	NM_001243733.1|NM_003377.4	NP_001230662.1|NP_003368.1	P49765	VEGFB_HUMAN	vascular endothelial growth factor B	187					anti-apoptosis|induction of positive chemotaxis|negative regulation of gene expression|negative regulation of neuron apoptosis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of endothelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of mast cell chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of vascular endothelial growth factor receptor signaling pathway|positive regulation of vascular wound healing|vascular endothelial growth factor receptor signaling pathway	extracellular region|extracellular space|membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity|heparin binding|vascular endothelial growth factor receptor 1 binding			endometrium(2)|large_intestine(2)|prostate(1)|stomach(1)	6						CAGCGCCCTGACCCCCGGACC	0.706													9	20					0	0	1	0	0	C	64005040	A	C	64005040	3	2	135	1	0	0	0	0	1	0	0	0	17211	275	10	5	581	5	VEGFB	11	64005040	Missense_Mutation	SNP	A	TCGA-DU-A5TW-01A-11D-A289-08	18332821	64005040	71001476	35	21878											
ATG2A	23130	broad.mit.edu	37	11	64684532	64684532	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chr11:64684532C>T	ENST00000421419.2	-	1	190	c.76G>A	c.(76-78)Ggt>Agt	p.G26S	ATG2A_ENST00000377264.3_Missense_Mutation_p.G26S			Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	26							protein binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						AAGAAGTGACCTAAGTAGTGG	0.597													10	73					0	0	1	0	0	T	64684532	C	T	64684532	3	4	135	1	0	0	0	0	1	0	0	0	1092	681	24	2	5904	2	ATG2A	11	64684532	Missense_Mutation	SNP	C	TCGA-DU-A5TW-01A-11D-A289-08	679492	64684532	70321984	36	21879											
SLCO1B3	28234	broad.mit.edu	37	12	21030809	21030809	+	Silent	SNP	C	C	T	rs145036538		TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chr12:21030809C>T	ENST00000381545.3	+	10	1293	c.1074C>T	c.(1072-1074)taC>taT	p.Y358Y	SLCO1B3_ENST00000553473.1_Silent_p.Y358Y|SLCO1B3_ENST00000261196.2_Silent_p.Y358Y|LST3_ENST00000381541.3_Intron|SLCO1B7_ENST00000554957.1_Intron|LST3_ENST00000540229.1_Silent_p.Y358Y	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family, member 1B3	358					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)					CTTTTACTTACGTCTTTAAAT	0.338													13	51					0	0	1	0	0	T	21030809	C	T	21030809	2	4	135	1	0	0	0	0	0	0	0	1	14779	547	19	1		1	SLCO1B3	12	21030809	Silent	SNP	C	TCGA-DU-A5TW-01A-11D-A289-08		21030809	112821086	37	21880											
NFYB	4801	broad.mit.edu	37	12	104517157	104517157	+	Silent	SNP	C	C	T			TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chr12:104517157C>T	ENST00000240055.3	-	5	503	c.276G>A	c.(274-276)gaG>gaA	p.E92E	NFYB_ENST00000551727.1_Silent_p.E92E	NM_006166.3	NP_006157.1	P25208	NFYB_HUMAN	nuclear transcription factor Y, beta	92	B domain.|Subunit association domain (SAD) (By similarity).					CCAAT-binding factor complex	repressing transcription factor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|lung(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	6						AACTGATGAACTCACTTACAC	0.343													18	21					0	0	1	0	0	T	104517157	C	T	104517157	2	4	135	1	0	0	0	0	0	0	0	1	10437	564	20	2		2	NFYB	12	104517157	Silent	SNP	C	TCGA-DU-A5TW-01A-11D-A289-08	83486348	104517157	29334738	38	21881											
TP53	7157	broad.mit.edu	37	17	7574034	7574034	+	Splice_Site	SNP	C	C	G			TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chr17:7574034C>G	ENST00000420246.2	-	11	1259		c.e11-1		TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000359597.4_Intron|TP53_ENST00000269305.4_Splice_Site|TP53_ENST00000413465.2_Intron	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53						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.?(9)|p.0?(8)|p.I332fs*49(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)		GCCCACGGATCTGCAGCAACA	0.512		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)			29	7					0	0	1	0	0	G	7574034	C	G	7574034	5	3	135	1	0	0	0	0	0	0	1	0	16442	927	32	4	196	4	TP53	17	7574034	Splice_Site	SNP	C	TCGA-DU-A5TW-01A-11D-A289-08		7574034	73621176	39	21882											
MYH8	4626	broad.mit.edu	37	17	10304026	10304026	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chr17:10304026C>T	ENST00000403437.2	-	27	3510	c.3416G>A	c.(3415-3417)cGc>cAc	p.R1139H	RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1139					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						GAGGTCAGAGCGCTGCTTCTC	0.572									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				24	126					0	0	1	0	0	T	10304026	C	T	10304026	3	4	135	1	0	0	0	0	1	0	0	0	10089	768	27	1	2453	1	MYH8	17	10304026	Missense_Mutation	SNP	C	TCGA-DU-A5TW-01A-11D-A289-08	2729992	10304026	70891184	40	21883											
EVI2B	2124	broad.mit.edu	37	17	29632058	29632058	+	Missense_Mutation	SNP	A	A	C	rs142498190		TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chr17:29632058A>C	ENST00000330927.4	-	2	724	c.570T>G	c.(568-570)agT>agG	p.S190R	EVI2B_ENST00000577894.1_Missense_Mutation_p.S190R|NF1_ENST00000356175.3_Intron|EVI2B_ENST00000544462.1_Missense_Mutation_p.S205R|NF1_ENST00000358273.4_Intron	NM_006495.3	NP_006486.3	P34910	EVI2B_HUMAN	ecotropic viral integration site 2B	190						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)		TTTGTTTGTTACTGGTAGTAT	0.338													11	137					0	0	1	0	0	C	29632058	A	C	29632058	3	2	135	1	0	0	0	0	1	0	0	0	5316	388	14	5	780	5	EVI2B	17	29632058	Missense_Mutation	SNP	A	TCGA-DU-A5TW-01A-11D-A289-08	19328032	29632058	51563152	41	21884											
HRH4	59340	broad.mit.edu	37	18	22056982	22056982	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chr18:22056982G>A	ENST00000256906.4	+	3	729	c.629G>A	c.(628-630)tGc>tAc	p.C210Y	HRH4_ENST00000426880.2_Missense_Mutation_p.C122Y	NM_001160166.1|NM_021624.3	NP_001153638.1|NP_067637.2	Q9H3N8	HRH4_HUMAN	histamine receptor H4	210						integral to membrane|plasma membrane	histamine receptor activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22	all_cancers(21;0.000545)|all_epithelial(16;6.56e-06)|Lung NSC(20;0.0027)|all_lung(20;0.0085)|Colorectal(14;0.0361)|Ovarian(20;0.0991)				Clozapine(DB00363)	CTCAGTAGGTGCCAAAGCCAT	0.438													6	142					0	0	1	0	0	A	22056982	G	A	22056982	3	1	135	1	0	0	0	0	1	0	0	0	7399	1319	46	2	639	2	HRH4	18	22056982	Missense_Mutation	SNP	G	TCGA-DU-A5TW-01A-11D-A289-08		22056982	56020266	42	21885											
KATNAL2	83473	broad.mit.edu	37	18	44595881	44595882	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chr18:44595881_44595882delTG	ENST00000245121.5	+	10	896_897	c.702_703delTG	c.(700-705)gctgtgfs	p.V235fs	KATNAL2_ENST00000356157.7_Frame_Shift_Del_p.V307fs|KATNAL2_ENST00000592005.1_Intron	NM_031303.2	NP_112593.2	Q8IYT4	KATL2_HUMAN	katanin p60 subunit A-like 2	307						cytoplasm|microtubule	ATP binding|microtubule-severing ATPase activity			central_nervous_system(2)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	27						TGGCCAAAGCTGTGGCCACTGA	0.426													11	65	---	---	---	---						-	44595882	TG	-	44595881	7	5	135	1	0	1	0	1	0	0	0	0	8030	1567	55	0	736	0	KATNAL2	18	44595881	Frame_Shift_Del	DEL	TG	TCGA-DU-A5TW-01A-11D-A289-08	22538899	44595881	33481367	43	21886											
FBN3	84467	broad.mit.edu	37	19	8201077	8201077	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chr19:8201077C>T	ENST00000600128.1	-	12	1876	c.1462G>A	c.(1462-1464)Gtg>Atg	p.V488M	FBN3_ENST00000601739.1_Missense_Mutation_p.V488M|FBN3_ENST00000270509.2_Missense_Mutation_p.V488M			Q75N90	FBN3_HUMAN	fibrillin 3	488	EGF-like 4; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						GCCGTACCCACGCATGCCTGC	0.667													10	83					0	0	1	0	0	T	8201077	C	T	8201077	3	4	135	1	0	0	0	0	1	0	0	0	5737	536	19	1	7179	1	FBN3	19	8201077	Missense_Mutation	SNP	C	TCGA-DU-A5TW-01A-11D-A289-08		8201077	50927906	44	21887											
MUC16	94025	broad.mit.edu	37	19	9046871	9046871	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chr19:9046871G>A	ENST00000397910.4	-	5	34963	c.34760C>T	c.(34759-34761)aCg>aTg	p.T11587M		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11589	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CCCAGAAACCGTTGTGCTGGT	0.522													15	54					0	0	1	0	0	A	9046871	G	A	9046871	3	1	135	1	0	0	0	0	1	0	0	0	10021	1145	40	1	9083	1	MUC16	19	9046871	Missense_Mutation	SNP	G	TCGA-DU-A5TW-01A-11D-A289-08	845794	9046871	50082112	45	21888											
PRR19	284338	broad.mit.edu	37	19	42814703	42814703	+	Silent	SNP	G	G	A			TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chr19:42814703G>A	ENST00000499536.2	+	2	1693	c.882G>A	c.(880-882)acG>acA	p.T294T	PRR19_ENST00000598490.1_3'UTR|PRR19_ENST00000341747.3_Silent_p.T294T			A6NJB7	PRR19_HUMAN	proline rich 19	294	Pro-rich.									NS(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	10		Prostate(69;0.00682)				TGGTAGCCACGCCACCCCCTC	0.627													11	165					0	0	1	0	0	A	42814703	G	A	42814703	2	1	135	1	0	0	0	0	0	0	0	1	12643	1074	38	1		1	PRR19	19	42814703	Silent	SNP	G	TCGA-DU-A5TW-01A-11D-A289-08	33767832	42814703	16314280	46	21889											
GPR4	2828	broad.mit.edu	37	19	46094975	46094975	+	Silent	SNP	G	G	A			TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chr19:46094975G>A	ENST00000323040.4	-	2	1094	c.150C>T	c.(148-150)aaC>aaT	p.N50N	OPA3_ENST00000544371.1_Intron	NM_005282.2	NP_005273.1	P46093	GPR4_HUMAN	G protein-coupled receptor 4	50						integral to plasma membrane	G-protein coupled receptor activity			breast(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;0.0071)|GBM - Glioblastoma multiforme(486;0.128)|Epithelial(262;0.223)		CGCCCAGCTCGTTGCGCTGTT	0.617													15	106					0	0	1	0	0	A	46094975	G	A	46094975	2	1	135	1	0	0	0	0	0	0	0	1	6734	1136	40	1		1	GPR4	19	46094975	Silent	SNP	G	TCGA-DU-A5TW-01A-11D-A289-08	3280272	46094975	13034008	47	21890											
CCDC8	83987	broad.mit.edu	37	19	46915402	46915402	+	Silent	SNP	G	G	A			TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chr19:46915402G>A	ENST00000307522.3	-	1	1439	c.666C>T	c.(664-666)ggC>ggT	p.G222G		NM_032040.4	NP_114429.2	Q9H0W5	CCDC8_HUMAN	coiled-coil domain containing 8	222						plasma membrane				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421)		GCCGGGCCTCGCCCACCCCGG	0.701													8	32					0	0	1	0	0	A	46915402	G	A	46915402	2	1	135	1	0	0	0	0	0	0	0	1	2873	1074	38	1		1	CCDC8	19	46915402	Silent	SNP	G	TCGA-DU-A5TW-01A-11D-A289-08	820427	46915402	12213581	48	21891											
CPT1C	126129	broad.mit.edu	37	19	50203968	50203968	+	Silent	SNP	G	G	A	rs141969670		TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chr19:50203968G>A	ENST00000392518.4	+	5	681	c.309G>A	c.(307-309)ggG>ggA	p.G103G	CPT1C_ENST00000598293.1_Silent_p.G103G|CPT1C_ENST00000354199.5_Silent_p.G103G|CPT1C_ENST00000405931.2_Silent_p.G103G|CPT1C_ENST00000323446.5_Silent_p.G103G	NM_001199752.1	NP_001186681.1	Q8TCG5	CPT1C_HUMAN	carnitine palmitoyltransferase 1C	103					fatty acid metabolic process	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)		GGCTCCGGGGGGTCCTGGCAG	0.662													18	178					0	0	1	0	0	A	50203968	G	A	50203968	2	1	135	1	0	0	0	0	0	0	0	1	3856	1219	43	2		2	CPT1C	19	50203968	Silent	SNP	G	TCGA-DU-A5TW-01A-11D-A289-08	3288566	50203968	8925015	49	21892											
NLRP2	55655	broad.mit.edu	37	19	55501464	55501464	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chr19:55501464C>T	ENST00000543010.1	+	9	2584	c.2441C>T	c.(2440-2442)aCg>aTg	p.T814M	NLRP2_ENST00000339757.7_Missense_Mutation_p.T792M|NLRP2_ENST00000537859.1_Missense_Mutation_p.T792M|NLRP2_ENST00000427260.2_Missense_Mutation_p.T791M|NLRP2_ENST00000263437.6_Missense_Mutation_p.T811M|NLRP2_ENST00000538819.1_Missense_Mutation_p.T790M|NLRP2_ENST00000448584.2_Missense_Mutation_p.T814M|NLRP2_ENST00000391721.4_Missense_Mutation_p.T790M	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	814					apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		CAGTCCCTGACGTGCGTAAAC	0.517													46	52					0	0	1	0	0	T	55501464	C	T	55501464	3	4	135	1	0	0	0	0	1	0	0	0	10524	536	19	1	2471	1	NLRP2	19	55501464	Missense_Mutation	SNP	C	TCGA-DU-A5TW-01A-11D-A289-08	5297496	55501464	3627519	50	21893											
SGK2	10110	broad.mit.edu	37	20	42204987	42204987	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chr20:42204987C>G	ENST00000373100.1	+	12	1277	c.817C>G	c.(817-819)Cag>Gag	p.Q273E	SGK2_ENST00000373092.3_Missense_Mutation_p.Q273E|SGK2_ENST00000341458.4_Missense_Mutation_p.Q333E|SGK2_ENST00000423407.3_Missense_Mutation_p.Q273E|SGK2_ENST00000426287.1_Missense_Mutation_p.Q299E|SGK2_ENST00000373077.1_Missense_Mutation_p.Q272E			Q9HBY8	SGK2_HUMAN	serum/glucocorticoid regulated kinase 2	333	Protein kinase.				intracellular protein kinase cascade|response to oxidative stress		ATP binding|potassium channel regulator activity|protein serine/threonine kinase activity|sodium channel regulator activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			CCACAAGGACCAGAGGCAGCG	0.607													6	99					0	0	1	0	0	G	42204987	C	G	42204987	3	3	135	1	0	0	0	0	1	0	0	0	14263	595	21	5	1035	5	SGK2	20	42204987	Missense_Mutation	SNP	C	TCGA-DU-A5TW-01A-11D-A289-08		42204987	20820533	51	21894											
WFDC6	140870	broad.mit.edu	37	20	44168015	44168015	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chr20:44168015A>G	ENST00000600168.1	-	1	119	c.32T>C	c.(31-33)gTa>gCa	p.V11A	EPPIN_ENST00000555685.1_Intron|EPPIN-WFDC6_ENST00000504988.1_Intron|WFDC6_ENST00000372670.3_Missense_Mutation_p.V11A					WAP four-disulfide core domain 6											breast(1)|kidney(1)|large_intestine(2)|lung(2)	6		Myeloproliferative disorder(115;0.0122)				GATGAATGGTACCAGGATTGG	0.512													4	91					0	0	1	0	0	G	44168015	A	G	44168015	3	3	135	1	0	0	0	0	1	0	0	0	17415	391	14	3	240	3	WFDC6	20	44168015	Missense_Mutation	SNP	A	TCGA-DU-A5TW-01A-11D-A289-08	1963028	44168015	18857505	52	21895											
DDX27	55661	broad.mit.edu	37	20	47835985	47835985	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chr20:47835985C>G	ENST00000371764.4	+	1	102	c.93C>G	c.(91-93)aaC>aaG	p.N31K	DDX27_ENST00000484427.1_3'UTR	NM_017895.7	NP_060365.7	Q96GQ7	DDX27_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 27	31						nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	45			BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			TCTGCGACAACATGCTTGCGG	0.602													19	25					0	0	1	0	0	G	47835985	C	G	47835985	3	3	135	1	0	0	0	0	1	0	0	0	4377	477	17	5	95	5	DDX27	20	47835985	Missense_Mutation	SNP	C	TCGA-DU-A5TW-01A-11D-A289-08	3667970	47835985	15189535	53	21896											
MGAT3	4248	broad.mit.edu	37	22	39884655	39884655	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chr22:39884655G>A	ENST00000341184.6	+	2	1518	c.1303G>A	c.(1303-1305)Gcc>Acc	p.A435T		NM_001098270.1|NM_002409.4	NP_001091740.1|NP_002400.3	Q09327	MGAT3_HUMAN	mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase	435					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity			endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|prostate(1)|skin(1)	24	Melanoma(58;0.04)					GCTCGTGTCCGCCCAGAATGG	0.662													23	38					0	0	1	0	0	A	39884655	G	A	39884655	3	1	135	1	0	0	0	0	1	0	0	0	9594	1087	38	1	1305	1	MGAT3	22	39884655	Missense_Mutation	SNP	G	TCGA-DU-A5TW-01A-11D-A289-08		39884655	11419911	54	21897											
DMD	1756	broad.mit.edu	37	X	32867885	32867885	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chrX:32867885C>T	ENST00000357033.4	-	3	352	c.146G>A	c.(145-147)cGc>cAc	p.R49H	DMD_ENST00000378677.2_Missense_Mutation_p.R45H|DMD_ENST00000288447.4_Missense_Mutation_p.R41H	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	49	Actin-binding.|CH 1.		Missing (in BMD).		muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				GTCTAGGAGGCGCCTCCCATC	0.393													8	64					0	0	1	0	0	T	32867885	C	T	32867885	3	4	135	1	0	0	0	0	1	0	0	0	4608	768	27	1	11462	1	DMD	23	32867885	Missense_Mutation	SNP	C	TCGA-DU-A5TW-01A-11D-A289-08		32867885	122402675	55	21898											
ATRX	546	broad.mit.edu	37	X	76937833	76937836	+	Frame_Shift_Del	DEL	TCTT	TCTT	-			TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chrX:76937833_76937836delTCTT	ENST00000373344.5	-	9	3126_3129	c.2912_2915delAAGA	c.(2911-2916)aaagacfs	p.KD971fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.KD933fs	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	971					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)	ATCGCTCTGGTCTTTCTTTAGGAA	0.324			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						90	136	---	---	---	---						-	76937836	TCTT	-	76937833	7	5	135	1	0	1	0	1	0	0	0	0	1206	1667	58	0	4671	0	ATRX	23	76937833	Frame_Shift_Del	DEL	TCTT	TCGA-DU-A5TW-01A-11D-A289-08	44069948	76937833	78332727	56	21899											
SYTL4	94121	broad.mit.edu	37	X	99956505	99956505	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chrX:99956505C>T	ENST00000372981.1	-	3	461	c.275G>A	c.(274-276)cGc>cAc	p.R92H	SYTL4_ENST00000455616.1_Missense_Mutation_p.R92H|SYTL4_ENST00000263033.5_Missense_Mutation_p.R92H|SYTL4_ENST00000372989.1_Missense_Mutation_p.R92H|SYTL4_ENST00000276141.6_Missense_Mutation_p.R92H|SYTL4_ENST00000454200.2_Missense_Mutation_p.R92H			Q96C24	SYTL4_HUMAN	synaptotagmin-like 4	92	RabBD.				exocytosis|intracellular protein transport	extrinsic to membrane|plasma membrane|synaptic vesicle|transport vesicle membrane	neurexin binding|phospholipid binding|Rab GTPase binding|transporter activity|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(2)	27					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TTCCTGTATGCGGCAGTCCCG	0.582													60	97					0	0	1	0	0	T	99956505	C	T	99956505	3	4	135	1	0	0	0	0	1	0	0	0	15542	768	27	1	1800	1	SYTL4	23	99956505	Missense_Mutation	SNP	C	TCGA-DU-A5TW-01A-11D-A289-08	23018672	99956505	55314055	57	21900											
IL1RAPL2	26280	broad.mit.edu	37	X	104984622	104984622	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chrX:104984622A>G	ENST00000372582.1	+	8	1742	c.986A>G	c.(985-987)tAt>tGt	p.Y329C	IL1RAPL2_ENST00000344799.4_Missense_Mutation_p.Y329C	NM_017416.1	NP_059112.1	Q9NP60	IRPL2_HUMAN	interleukin 1 receptor accessory protein-like 2	329	Ig-like C2-type 3.				central nervous system development|innate immune response	integral to membrane	interleukin-1, Type II, blocking receptor activity			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						CTGGCGAATTATACCTGCCAT	0.393													31	38					0	0	1	0	0	G	104984622	A	G	104984622	3	3	135	1	0	0	0	0	1	0	0	0	7706	449	16	3	1012	3	IL1RAPL2	23	104984622	Missense_Mutation	SNP	A	TCGA-DU-A5TW-01A-11D-A289-08	5028117	104984622	50285938	58	21901											
BRS3	680	broad.mit.edu	37	X	135572458	135572458	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chrX:135572458G>T	ENST00000370648.3	+	2	829	c.601G>T	c.(601-603)Gaa>Taa	p.E201*		NM_001727.1	NP_001718.1	P32247	BRS3_HUMAN	bombesin-like receptor 3	201					adult feeding behavior|glucose metabolic process|regulation of blood pressure	integral to membrane|plasma membrane	bombesin receptor activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|pancreas(1)|prostate(1)	23	Acute lymphoblastic leukemia(192;0.000127)					TATGACATTTGAATCATGTAC	0.373													5	51					5.9392e-07	6.58128e-07	1	1	0	T	135572458	G	T	135572458	4	4	135	1	0	0	0	0	0	1	0	0	1524	1291	45	5	607	5	BRS3	23	135572458	Nonsense_Mutation	SNP	G	TCGA-DU-A5TW-01A-11D-A289-08	30587836	135572458	19698102	59	21902											
RENBP	5973	broad.mit.edu	37	X	153208402	153208402	+	Missense_Mutation	SNP	G	G	T	rs149476338		TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chrX:153208402G>T	ENST00000393700.3	-	6	672	c.592C>A	c.(592-594)Ctg>Atg	p.L198M	RENBP_ENST00000462086.1_5'UTR|RENBP_ENST00000369997.3_Missense_Mutation_p.L184M|RENBP_ENST00000412763.1_Missense_Mutation_p.L198M	NM_002910.5	NP_002901.2	P51606	RENBP_HUMAN	renin binding protein	198	Leucine-zipper.				mannose metabolic process|regulation of blood pressure		endopeptidase inhibitor activity|mannose-6-phosphate isomerase activity|N-acylglucosamine 2-epimerase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				N-Acetyl-D-glucosamine(DB00141)	TGCTCCACCAGGTTCAGTAGC	0.701													13	166					0.00244969	0.00257532	1	1	0	T	153208402	G	T	153208402	3	4	135	1	0	0	0	0	1	0	0	0	13277	991	35	4	715	4	RENBP	23	153208402	Missense_Mutation	SNP	G	TCGA-DU-A5TW-01A-11D-A289-08	17635944	153208402	2062158	60	21903											
OPRD1	4985	broad.mit.edu	37	1	29189572	29189572	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr1:29189572C>T	ENST00000234961.2	+	3	1138	c.896C>T	c.(895-897)gCg>gTg	p.A299V		NM_000911.3	NP_000902.3	P41143	OPRD_HUMAN	opioid receptor, delta 1	299					immune response|protein import into nucleus, translocation	integral to plasma membrane	delta-opioid receptor activity|protein binding			breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		Colorectal(325;3.46e-05)|Lung NSC(340;0.000947)|all_lung(284;0.00131)|Renal(390;0.00758)|Breast(348;0.00765)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;1.29e-07)|COAD - Colon adenocarcinoma(152;7.51e-06)|STAD - Stomach adenocarcinoma(196;0.00306)|BRCA - Breast invasive adenocarcinoma(304;0.0241)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)	Butorphanol(DB00611)|Codeine(DB00318)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Loperamide(DB00836)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pimozide(DB01100)|Propoxyphene(DB00647)	GTGGTGGCTGCGCTGCACCTG	0.642													11	18					0	0	1	0	0	T	29189572	C	T	29189572	3	4	136	1	0	0	0	0	1	0	0	0	10932	768	27	1	906	1	OPRD1	1	29189572	Missense_Mutation	SNP	C	TCGA-DU-A5TY-01A-11D-A289-08		29189572	220061049	1	21904											
ADC	113451	broad.mit.edu	37	1	33585652	33585652	+	Silent	SNP	C	C	T			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr1:33585652C>T	ENST00000294517.6	+	12	1839	c.1252C>T	c.(1252-1254)Ctg>Ttg	p.L418L	ADC_ENST00000373441.1_Silent_p.L438L|ADC_ENST00000484656.1_3'UTR|ADC_ENST00000398167.1_Silent_p.L438L|ADC_ENST00000373443.3_Silent_p.L418L	NM_052998.2	NP_443724.1	Q96A70	ADC_HUMAN	arginine decarboxylase	418					polyamine biosynthetic process|spermatogenesis	cytosol	arginine decarboxylase activity			NS(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(2)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)			L-Arginine(DB00125)|Pyridoxal Phosphate(DB00114)	TAGGGAAGCGCTGCGAAGGCA	0.637													24	44					0	0	1	0	0	T	33585652	C	T	33585652	2	4	136	1	0	0	0	0	0	0	0	1	286	796	28	2		2	ADC	1	33585652	Silent	SNP	C	TCGA-DU-A5TY-01A-11D-A289-08	4396080	33585652	215664969	2	21905											
KIAA0754	643314	broad.mit.edu	37	1	39876700	39876700	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr1:39876700T>C	ENST00000530275.1	+	1	550	c.355T>C	c.(355-357)Tca>Cca	p.S119P	MACF1_ENST00000539005.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000289893.4_Intron|MACF1_ENST00000372915.3_Intron|MACF1_ENST00000567887.1_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000564288.1_Intron|MACF1_ENST00000361689.2_Intron	NM_015038.1	NP_055853.1	O94854	K0754_HUMAN	KIAA0754	119										central_nervous_system(1)|large_intestine(6)|skin(1)	8	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			ATCCAGATTCTCAAGTGCAAC	0.512											OREG0013393	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	17	28					0	0	1	0	0	C	39876700	T	C	39876700	3	2	136	1	0	0	0	0	1	0	0	0	8234	1551	54	3	765	3	KIAA0754	1	39876700	Missense_Mutation	SNP	T	TCGA-DU-A5TY-01A-11D-A289-08	6291048	39876700	209373921	3	21906											
ASB17	127247	broad.mit.edu	37	1	76397738	76397738	+	Missense_Mutation	SNP	C	C	T	rs148576874		TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr1:76397738C>T	ENST00000284142.6	-	1	378	c.239G>A	c.(238-240)cGt>cAt	p.R80H		NM_080868.2	NP_543144.1	Q8WXJ9	ASB17_HUMAN	ankyrin repeat and SOCS box containing 17	80					intracellular signal transduction					breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	21						TACTTCAAAACGGTATCCTGA	0.373													17	37					0	0	1	0	0	T	76397738	C	T	76397738	3	4	136	1	0	0	0	0	1	0	0	0	1020	536	19	1	660	1	ASB17	1	76397738	Missense_Mutation	SNP	C	TCGA-DU-A5TY-01A-11D-A289-08	36521038	76397738	172852883	4	21907											
AMIGO1	57463	broad.mit.edu	37	1	110050353	110050353	+	Silent	SNP	G	G	A			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr1:110050353G>A	ENST00000369864.4	-	2	1531	c.1182C>T	c.(1180-1182)acC>acT	p.T394T	AMIGO1_ENST00000369862.1_Silent_p.T394T			Q86WK6	AMGO1_HUMAN	adhesion molecule with Ig-like domain 1	394					axonal fasciculation|heterophilic cell-cell adhesion|homophilic cell adhesion|myelination|positive regulation of axonogenesis	axon|integral to membrane				autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Colorectal(144;0.0129)|Lung(183;0.0182)|Epithelial(280;0.046)|all cancers(265;0.0492)|READ - Rectum adenocarcinoma(129;0.0689)|LUSC - Lung squamous cell carcinoma(189;0.227)		AGCGGCAAGGGGTGAGGTATA	0.547													23	54					0	0	1	0	0	A	110050353	G	A	110050353	2	1	136	1	0	0	0	0	0	0	0	1	571	1219	43	2		2	AMIGO1	1	110050353	Silent	SNP	G	TCGA-DU-A5TY-01A-11D-A289-08	33652615	110050353	139200268	5	21908											
ANXA9	8416	broad.mit.edu	37	1	150957082	150957082	+	Silent	SNP	C	C	T			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr1:150957082C>T	ENST00000368947.4	+	7	878	c.402C>T	c.(400-402)gaC>gaT	p.D134D		NM_003568.2	NP_003559.2	O76027	ANXA9_HUMAN	annexin A9	134					cell-cell adhesion	cell surface|cytosol	acetylcholine receptor activity|calcium ion binding|calcium-dependent phospholipid binding|phosphatidylserine binding|protein homodimerization activity			endometrium(1)|large_intestine(1)|lung(4)|skin(2)	8	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			CTGCTGTGGACGTGGCCATTG	0.542													7	24					0	0	1	0	0	T	150957082	C	T	150957082	2	4	136	1	0	0	0	0	0	0	0	1	721	535	19	1		1	ANXA9	1	150957082	Silent	SNP	C	TCGA-DU-A5TY-01A-11D-A289-08	40906729	150957082	98293539	6	21909											
CACNA1E	777	broad.mit.edu	37	1	181745306	181745306	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr1:181745306G>A	ENST00000526775.1	+	37	5317	c.5152G>A	c.(5152-5154)Ggg>Agg	p.G1718R	CACNA1E_ENST00000367567.4_Missense_Mutation_p.G1344R|CACNA1E_ENST00000357570.5_Missense_Mutation_p.G1688R|CACNA1E_ENST00000360108.3_Missense_Mutation_p.G1718R|CACNA1E_ENST00000358338.5_Missense_Mutation_p.G1669R|CACNA1E_ENST00000367573.2_Missense_Mutation_p.G1737R|CACNA1E_ENST00000367570.1_Missense_Mutation_p.G1737R	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1737					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						CTCCATCCTGGGGCCTCACCA	0.602													80	123					0	0	1	0	0	A	181745306	G	A	181745306	3	1	136	1	0	0	0	0	1	0	0	0	2560	1232	43	2	5359	2	CACNA1E	1	181745306	Missense_Mutation	SNP	G	TCGA-DU-A5TY-01A-11D-A289-08	30788224	181745306	67505315	7	21910											
SMC6	79677	broad.mit.edu	37	2	17884529	17884529	+	Silent	SNP	C	C	T			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr2:17884529C>T	ENST00000448223.2	-	19	2306	c.2037G>A	c.(2035-2037)acG>acA	p.T679T	SMC6_ENST00000402989.1_Silent_p.T679T|SMC6_ENST00000351948.4_Silent_p.T679T|SMC6_ENST00000381272.4_Silent_p.T705T	NM_001142286.1	NP_001135758.1	Q96SB8	SMC6_HUMAN	structural maintenance of chromosomes 6	679					DNA recombination|DNA repair	chromosome|nucleus	ATP binding			NS(1)|biliary_tract(1)|breast(6)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					ATATCTGGGCCGTCTTATTTT	0.313													9	32					0	0	1	0	0	T	17884529	C	T	17884529	2	4	136	1	0	0	0	0	0	0	0	1	14841	639	23	1		1	SMC6	2	17884529	Silent	SNP	C	TCGA-DU-A5TY-01A-11D-A289-08		17884529	225314844	8	21911											
ACVR2A	92	broad.mit.edu	37	2	148657327	148657327	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr2:148657327G>A	ENST00000241416.7	+	4	1024	c.388G>A	c.(388-390)Gtt>Att	p.V130I	ACVR2A_ENST00000535787.1_Missense_Mutation_p.V22I|ACVR2A_ENST00000404590.1_Missense_Mutation_p.V130I|AC009480.3_ENST00000402410.2_RNA	NM_001278579.1|NM_001278580.1|NM_001616.3	NP_001265508.1|NP_001265509.1|NP_001607.1	P27037	AVR2A_HUMAN	activin A receptor, type IIA	130					activin receptor signaling pathway|BMP signaling pathway|positive regulation of activin receptor signaling pathway|positive regulation of bone mineralization|positive regulation of erythrocyte differentiation|positive regulation of osteoblast differentiation|positive regulation of protein phosphorylation	cytoplasm|inhibin-betaglycan-ActRII complex|integral to plasma membrane	ATP binding|coreceptor activity|inhibin beta-A binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta receptor activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(5)|large_intestine(14)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(8)	45				BRCA - Breast invasive adenocarcinoma(221;0.0969)		TTCAAATCCAGTTACACCTAA	0.398													133	252					0	0	1	0	0	A	148657327	G	A	148657327	3	1	136	1	0	0	0	0	1	0	0	0	222	1029	36	2	402	2	ACVR2A	2	148657327	Missense_Mutation	SNP	G	TCGA-DU-A5TY-01A-11D-A289-08	130772798	148657327	94542046	9	21912											
ZNF385B	151126	broad.mit.edu	37	2	180634461	180634461	+	Missense_Mutation	SNP	G	G	A	rs146268620		TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr2:180634461G>A	ENST00000410066.1	-	3	625	c.22C>T	c.(22-24)Cgg>Tgg	p.R8W		NM_152520.4	NP_689733.3	Q569K4	Z385B_HUMAN	zinc finger protein 385B	8						nucleus	nucleic acid binding|zinc ion binding			breast(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	26			Epithelial(96;0.174)|OV - Ovarian serous cystadenocarcinoma(117;0.201)			TCAAAGCCCCGTAGAAAATTT	0.413													20	51					0	0	1	0	0	A	180634461	G	A	180634461	3	1	136	1	0	0	0	0	1	0	0	0	17934	1144	40	1	1454	1	ZNF385B	2	180634461	Missense_Mutation	SNP	G	TCGA-DU-A5TY-01A-11D-A289-08	31977134	180634461	62564912	10	21913											
IQCA1	79781	broad.mit.edu	37	2	237272426	237272426	+	Silent	SNP	G	G	A			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr2:237272426G>A	ENST00000409907.3	-	15	2140	c.1866C>T	c.(1864-1866)ttC>ttT	p.F622F	IQCA1_ENST00000309507.5_Silent_p.F619F|IQCA1_ENST00000431676.2_Silent_p.F581F	NM_024726.4	NP_079002.3	Q86XH1	IQCA1_HUMAN	IQ motif containing with AAA domain 1	622							ATP binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)	26						TCCATACCTTGAAGACTGCAT	0.448													15	98					0	0	1	0	0	A	237272426	G	A	237272426	2	1	136	1	0	0	0	0	0	0	0	1	7846	1281	45	2		2	IQCA1	2	237272426	Silent	SNP	G	TCGA-DU-A5TY-01A-11D-A289-08	56637965	237272426	5926947	11	21914											
RAP2B	5912	broad.mit.edu	37	3	152880516	152880516	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr3:152880516G>A	ENST00000323534.2	+	1	488	c.34G>A	c.(34-36)Ggc>Agc	p.G12S		NM_002886.2	NP_002877.2	P61225	RAP2B_HUMAN	RAP2B, member of RAS oncogene family	12					Rap protein signal transduction|regulation of protein tyrosine kinase activity	recycling endosome membrane	GTP binding|GTPase activity			NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	7			LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11)			GCTGGGCTCGGGCGGCGTGGG	0.667													26	29					0	0	1	0	0	A	152880516	G	A	152880516	3	1	136	1	0	0	0	0	1	0	0	0	13093	1232	43	2	36	2	RAP2B	3	152880516	Missense_Mutation	SNP	G	TCGA-DU-A5TY-01A-11D-A289-08		152880516	45141914	12	21915											
ZNF330	27309	broad.mit.edu	37	4	142154882	142154883	+	Frame_Shift_Del	DEL	AT	AT	-			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr4:142154882_142154883delAT	ENST00000262990.4	+	10	930_931	c.702_703delAT	c.(700-705)aaatttfs	p.KF234fs	ZNF330_ENST00000421169.2_Frame_Shift_Del_p.KF174fs	NM_014487.4	NP_055302.1	Q9Y3S2	ZN330_HUMAN	zinc finger protein 330	234						chromosome, centromeric region|midbody|nucleolus	protein binding|zinc ion binding			kidney(1)|large_intestine(4)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	14	all_hematologic(180;0.162)					GCTCCCTGAAATTTGGCAGGCA	0.416													23	35	---	---	---	---						-	142154883	AT	-	142154882	7	5	136	1	0	1	0	1	0	0	0	0	17905	98	4	0	736	0	ZNF330	4	142154882	Frame_Shift_Del	DEL	AT	TCGA-DU-A5TY-01A-11D-A289-08		142154882	48999394	13	21916											
CYP4V2	285440	broad.mit.edu	37	4	187118127	187118127	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr4:187118127G>T	ENST00000378802.4	+	4	751	c.447G>T	c.(445-447)atG>atT	p.M149I		NM_207352.3	NP_997235.3	Q6ZWL3	CP4V2_HUMAN	cytochrome P450, family 4, subfamily V, polypeptide 2	149					response to stimulus|visual perception	endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(1)|stomach(2)	20		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.33e-10)|BRCA - Breast invasive adenocarcinoma(30;3.84e-05)|GBM - Glioblastoma multiforme(59;0.000132)|STAD - Stomach adenocarcinoma(60;0.000293)|LUSC - Lung squamous cell carcinoma(40;0.00242)|READ - Rectum adenocarcinoma(43;0.17)		GGAGAAAGATGTTAACACCCA	0.323													5	43					0.0215528	0.0215528	1	1	0	T	187118127	G	T	187118127	3	4	136	1	0	0	0	0	1	0	0	0	4215	1377	48	5	461	5	CYP4V2	4	187118127	Missense_Mutation	SNP	G	TCGA-DU-A5TY-01A-11D-A289-08	44963245	187118127	4036149	14	21917											
PLEKHG4B	153478	broad.mit.edu	37	5	161988	161988	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr5:161988G>A	ENST00000283426.6	+	10	1560	c.1510G>A	c.(1510-1512)Gtg>Atg	p.V504M		NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4B	504					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		CCTGAGCGCCGTGGTCAGCCA	0.617													28	50					0	0	1	0	0	A	161988	G	A	161988	3	1	136	1	0	0	0	0	1	0	0	0	12120	1145	40	1	1548	1	PLEKHG4B	5	161988	Missense_Mutation	SNP	G	TCGA-DU-A5TY-01A-11D-A289-08		161988	180753272	15	21918											
CDH18	1016	broad.mit.edu	37	5	19838956	19838956	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr5:19838956A>G	ENST00000507958.1	-	5	1130	c.140T>C	c.(139-141)gTc>gCc	p.V47A	CDH18_ENST00000511273.1_Missense_Mutation_p.V47A|CDH18_ENST00000506372.1_Missense_Mutation_p.V47A|CDH18_ENST00000274170.4_Missense_Mutation_p.V47A|CDH18_ENST00000502796.1_Missense_Mutation_p.V47A|CDH18_ENST00000382275.1_Missense_Mutation_p.V47A			Q13634	CAD18_HUMAN	cadherin 18, type 2	47					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					ACGATGATGGACTTCGGTTTC	0.433													13	30					0	0	1	0	0	G	19838956	A	G	19838956	3	3	136	1	0	0	0	0	1	0	0	0	3125	275	10	3	2276	3	CDH18	5	19838956	Missense_Mutation	SNP	A	TCGA-DU-A5TY-01A-11D-A289-08	19676968	19838956	161076304	16	21919											
NNT	23530	broad.mit.edu	37	5	43613179	43613179	+	Silent	SNP	A	A	G			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr5:43613179A>G	ENST00000264663.5	+	3	542	c.321A>G	c.(319-321)agA>agG	p.R107R	NNT_ENST00000512996.2_5'UTR|NNT_ENST00000344920.4_Silent_p.R107R	NM_012343.3	NP_036475.3	Q13423	NNTM_HUMAN	nicotinamide nucleotide transhydrogenase	107					tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain	NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(6;2.58e-06)				NADH(DB00157)	ATCACTATAGAGTGGCAGGTG	0.478													67	80					0	0	1	0	0	G	43613179	A	G	43613179	2	3	136	1	0	0	0	0	0	0	0	1	10557	301	11	3		3	NNT	5	43613179	Silent	SNP	A	TCGA-DU-A5TY-01A-11D-A289-08	23774223	43613179	137302081	17	21920											
F2RL1	2150	broad.mit.edu	37	5	76129250	76129250	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr5:76129250C>T	ENST00000296677.4	+	2	1024	c.818C>T	c.(817-819)gCc>gTc	p.A273V		NM_005242.4	NP_005233	P55085	PAR2_HUMAN	coagulation factor II (thrombin) receptor-like 1	273					blood coagulation|elevation of cytosolic calcium ion concentration|positive regulation of leukocyte chemotaxis|positive regulation of positive chemotaxis|regulation of blood coagulation	Golgi apparatus|integral to plasma membrane	receptor binding|thrombin receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	13		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;7.7e-51)|Epithelial(54;2.77e-45)|all cancers(79;3.47e-41)		CGATCTTCTGCCATGGATGAA	0.483													7	144					0	0	1	0	0	T	76129250	C	T	76129250	3	4	136	1	0	0	0	0	1	0	0	0	5372	739	26	2	824	2	F2RL1	5	76129250	Missense_Mutation	SNP	C	TCGA-DU-A5TY-01A-11D-A289-08	32516071	76129250	104786010	18	21921											
TRIM39	56658	broad.mit.edu	37	6	30309546	30309546	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr6:30309546G>A	ENST00000376659.5	+	8	1575	c.977G>A	c.(976-978)cGt>cAt	p.R326H	TRIM39_ENST00000540416.1_Missense_Mutation_p.R326H|TRIM39-RPP21_ENST00000513556.1_Missense_Mutation_p.R238H|TRIM39_ENST00000396551.3_Missense_Mutation_p.R326H|TRIM39_ENST00000396548.1_Missense_Mutation_p.R326H|TRIM39_ENST00000376656.4_Missense_Mutation_p.R356H|TRIM39_ENST00000396547.1_Missense_Mutation_p.R356H	NM_172016.2	NP_742013.1			tripartite motif containing 39											ovary(3)	3						TCAGAGGATCGTAAGAGCGTC	0.567													20	29					0	0	1	0	0	A	30309546	G	A	30309546	3	1	136	1	0	0	0	0	1	0	0	0	16574	1145	40	1	1093	1	TRIM39	6	30309546	Missense_Mutation	SNP	G	TCGA-DU-A5TY-01A-11D-A289-08		30309546	140805521	19	21922											
CUL9	23113	broad.mit.edu	37	6	43171720	43171720	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr6:43171720C>G	ENST00000252050.4	+	20	4238	c.4154C>G	c.(4153-4155)tCt>tGt	p.S1385C	CUL9_ENST00000372647.2_Missense_Mutation_p.S1385C|CUL9_ENST00000354495.3_Missense_Mutation_p.S1275C	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	1385					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						AACATCACCTCTCCCGGTAAC	0.567													29	57					0	0	1	0	0	G	43171720	C	G	43171720	3	3	136	1	0	0	0	0	1	0	0	0	4084	913	32	4	4228	4	CUL9	6	43171720	Missense_Mutation	SNP	C	TCGA-DU-A5TY-01A-11D-A289-08	12862174	43171720	127943347	20	21923											
OGFRL1	79627	broad.mit.edu	37	6	72011297	72011297	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr6:72011297C>T	ENST00000370435.4	+	7	1035	c.901C>T	c.(901-903)Cag>Tag	p.Q301*	RP11-154D6.1_ENST00000586030.1_RNA|RP11-154D6.1_ENST00000591156.1_RNA|RP11-154D6.1_ENST00000432050.1_RNA|RP11-154D6.1_ENST00000412751.1_RNA|RP11-154D6.1_ENST00000588612.1_RNA|RP11-154D6.1_ENST00000587253.1_RNA|RP11-154D6.1_ENST00000586232.1_RNA|RP11-154D6.1_ENST00000423255.1_RNA|RP3-331H24.5_ENST00000602823.1_lincRNA	NM_024576.3	NP_078852.3	Q5TC84	OGRL1_HUMAN	opioid growth factor receptor-like 1	301						membrane	receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|upper_aerodigestive_tract(1)	13						GCGGTTCGCCCAGAAACACTA	0.463													27	61					0	0	1	0	0	T	72011297	C	T	72011297	4	4	136	1	0	0	0	0	0	1	0	0	10892	595	21	2	927	2	OGFRL1	6	72011297	Nonsense_Mutation	SNP	C	TCGA-DU-A5TY-01A-11D-A289-08	28839577	72011297	99103770	21	21924											
FRK	2444	broad.mit.edu	37	6	116277768	116277768	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr6:116277768T>C	ENST00000606080.1	-	5	1251	c.805A>G	c.(805-807)Atg>Gtg	p.M269V	FRK_ENST00000538210.1_Missense_Mutation_p.M127V	NM_002031.2	NP_002022.1	P42685	FRK_HUMAN	fyn-related kinase	269	Protein kinase.				negative regulation of cell proliferation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|skin(1)|urinary_tract(1)	27		all_cancers(87;0.00559)|all_epithelial(87;0.00738)|Colorectal(196;0.0465)		all cancers(137;0.0128)|OV - Ovarian serous cystadenocarcinoma(136;0.0209)|GBM - Glioblastoma multiforme(226;0.0459)|Epithelial(106;0.0625)		TTTGGATCCATTGAACCTGAA	0.428													36	46					0	0	1	0	0	C	116277768	T	C	116277768	3	2	136	1	0	0	0	0	1	0	0	0	6083	1493	52	3	728	3	FRK	6	116277768	Missense_Mutation	SNP	T	TCGA-DU-A5TY-01A-11D-A289-08	44266471	116277768	54837299	22	21925											
NPY	4852	broad.mit.edu	37	7	24329163	24329163	+	Silent	SNP	G	G	A			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr7:24329163G>A	ENST00000407573.1	+	4	524	c.234G>A	c.(232-234)ttG>ttA	p.L78L	NPY_ENST00000242152.2_Silent_p.L78L|NPY_ENST00000405982.1_Silent_p.L78L			P01303	NPY_HUMAN	neuropeptide Y	78					adult feeding behavior|calcium ion transport|cell proliferation|cellular component movement|central nervous system neuron development|cerebral cortex development|digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|neuron projection development|neuropeptide signaling pathway|positive regulation of appetite|synaptic transmission	cell|extracellular space	calcium channel regulator activity|G-protein coupled receptor activity|neuropeptide hormone activity			breast(1)|kidney(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	9						CAGACCTCTTGATGAGAGAAA	0.438													257	304					0	0	1	0	0	A	24329163	G	A	24329163	2	1	136	1	0	0	0	0	0	0	0	1	10655	1281	45	2		2	NPY	7	24329163	Silent	SNP	G	TCGA-DU-A5TY-01A-11D-A289-08		24329163	134809500	23	21926	108	2									
NPY	4852	broad.mit.edu	37	7	24329168	24329168	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr7:24329168G>A	ENST00000407573.1	+	4	529	c.239G>A	c.(238-240)aGa>aAa	p.R80K	NPY_ENST00000242152.2_Missense_Mutation_p.R80K|NPY_ENST00000405982.1_Missense_Mutation_p.R80K			P01303	NPY_HUMAN	neuropeptide Y	80					adult feeding behavior|calcium ion transport|cell proliferation|cellular component movement|central nervous system neuron development|cerebral cortex development|digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|neuron projection development|neuropeptide signaling pathway|positive regulation of appetite|synaptic transmission	cell|extracellular space	calcium channel regulator activity|G-protein coupled receptor activity|neuropeptide hormone activity			breast(1)|kidney(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	9						CTCTTGATGAGAGAAAGCACA	0.443													258	306					0	0	1	0	0	A	24329168	G	A	24329168	3	1	136	1	0	0	0	0	1	0	0	0	10655	942	33	2	245	2	NPY	7	24329168	Missense_Mutation	SNP	G	TCGA-DU-A5TY-01A-11D-A289-08	5	24329168	134809495	24	21927	108	2									
HOXA5	3202	broad.mit.edu	37	7	27181573	27181573	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr7:27181573G>C	ENST00000222726.3	-	2	754	c.694C>G	c.(694-696)Ctt>Gtt	p.L232V	HOXA5_ENST00000520854.1_5'UTR|HOXA-AS3_ENST00000518848.1_RNA|RP1-170O19.22_ENST00000467897.2_RNA|HOXA-AS3_ENST00000521197.1_RNA	NM_019102.3	NP_061975.2	P20719	HXA5_HUMAN	homeobox A5	232					negative regulation of angiogenesis|negative regulation of erythrocyte differentiation|positive regulation of apoptosis|positive regulation of myeloid cell differentiation|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(2)|lung(12)|skin(1)	16						GAGAGGCAAAGAGCATGTGCT	0.507											OREG0017911	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	48	950					0	0	1	0	0	C	27181573	G	C	27181573	3	2	136	1	0	0	0	0	1	0	0	0	7336	942	33	4	122	4	HOXA5	7	27181573	Missense_Mutation	SNP	G	TCGA-DU-A5TY-01A-11D-A289-08	2852405	27181573	131957090	25	21928											
JAZF1	221895	broad.mit.edu	37	7	27880436	27880436	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr7:27880436C>G	ENST00000283928.5	-	4	601	c.436G>C	c.(436-438)Gag>Cag	p.E146Q	JAZF1_ENST00000466516.1_5'UTR	NM_175061.3	NP_778231.2	Q86VZ6	JAZF1_HUMAN	JAZF zinc finger 1	146					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	transcriptional repressor complex	nucleic acid binding|transcription corepressor activity|zinc ion binding		JAZF1/SUZ12(133)	endometrium(1)|large_intestine(1)|lung(4)	6						GTCCAGGACTCATCGCTGTCC	0.577			T	SUZ12	endometrial stromal tumours								85	3462					0	0	1	0	0	G	27880436	C	G	27880436	3	3	136	1	0	0	0	0	1	0	0	0	7990	835	29	5	303	5	JAZF1	7	27880436	Missense_Mutation	SNP	C	TCGA-DU-A5TY-01A-11D-A289-08	698863	27880436	131258227	26	21929	109	3									
JAZF1	221895	broad.mit.edu	37	7	27880439	27880439	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr7:27880439C>T	ENST00000283928.5	-	4	598	c.433G>A	c.(433-435)Gat>Aat	p.D145N	JAZF1_ENST00000466516.1_5'UTR	NM_175061.3	NP_778231.2	Q86VZ6	JAZF1_HUMAN	JAZF zinc finger 1	145					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	transcriptional repressor complex	nucleic acid binding|transcription corepressor activity|zinc ion binding		JAZF1/SUZ12(133)	endometrium(1)|large_intestine(1)|lung(4)	6						CAGGACTCATCGCTGTCCGAC	0.577			T	SUZ12	endometrial stromal tumours								85	3424					0	0	1	0	0	T	27880439	C	T	27880439	3	4	136	1	0	0	0	0	1	0	0	0	7990	884	31	1	306	1	JAZF1	7	27880439	Missense_Mutation	SNP	C	TCGA-DU-A5TY-01A-11D-A289-08	3	27880439	131258224	27	21930	109	3									
JAZF1	221895	broad.mit.edu	37	7	27880445	27880445	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr7:27880445C>T	ENST00000283928.5	-	4	592	c.427G>A	c.(427-429)Gac>Aac	p.D143N	JAZF1_ENST00000466516.1_5'UTR	NM_175061.3	NP_778231.2	Q86VZ6	JAZF1_HUMAN	JAZF zinc finger 1	143					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	transcriptional repressor complex	nucleic acid binding|transcription corepressor activity|zinc ion binding		JAZF1/SUZ12(133)	endometrium(1)|large_intestine(1)|lung(4)	6						TCATCGCTGTCCGACTCCTCA	0.577			T	SUZ12	endometrial stromal tumours								78	3304					0	0	1	0	0	T	27880445	C	T	27880445	3	4	136	1	0	0	0	0	1	0	0	0	7990	855	30	2	312	2	JAZF1	7	27880445	Missense_Mutation	SNP	C	TCGA-DU-A5TY-01A-11D-A289-08	6	27880445	131258218	28	21931	109	3									
CPVL	54504	broad.mit.edu	37	7	29126137	29126137	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr7:29126137G>A	ENST00000409850.1	-	11	1218	c.572C>T	c.(571-573)cCt>cTt	p.P191L	CPVL_ENST00000396276.3_Missense_Mutation_p.P191L|CPVL_ENST00000265394.5_Missense_Mutation_p.P191L			Q9H3G5	CPVL_HUMAN	carboxypeptidase, vitellogenic-like	191					proteolysis		protein binding|serine-type carboxypeptidase activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)	28						TTTATATTCAGGAAATATCTG	0.338													12	479					0	0	1	0	0	A	29126137	G	A	29126137	3	1	136	1	0	0	0	0	1	0	0	0	3858	1000	35	2	886	2	CPVL	7	29126137	Missense_Mutation	SNP	G	TCGA-DU-A5TY-01A-11D-A289-08	1245692	29126137	130012526	29	21932			1	10		2	2	20	N	G	4.173479e-05
CPVL	54504	broad.mit.edu	37	7	29126156	29126156	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr7:29126156delG	ENST00000409850.1	-	11	1199	c.553delC	c.(553-555)cagfs	p.Q185fs	CPVL_ENST00000265394.5_Frame_Shift_Del_p.Q185fs|CPVL_ENST00000396276.3_Frame_Shift_Del_p.Q185fs			Q9H3G5	CPVL_HUMAN	carboxypeptidase, vitellogenic-like	185					proteolysis		protein binding|serine-type carboxypeptidase activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)	28						TGGAAAAACTGAATTAGTGCA	0.348													8	519	---	---	---	---						-	29126156	G	-	29126156	7	5	136	1	0	1	0	1	0	0	0	0	3858	1299	45	0	905	0	CPVL	7	29126156	Frame_Shift_Del	DEL	G	TCGA-DU-A5TY-01A-11D-A289-08	19	29126156	130012507	30	21933			1	10		2	2	20	N	G	4.173479e-05
EGFR	1956	broad.mit.edu	37	7	55223582	55223582	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr7:55223582G>A	ENST00000275493.2	+	8	1126	c.949G>A	c.(949-951)Gag>Aag	p.E317K	EGFR_ENST00000455089.1_Missense_Mutation_p.E272K|EGFR_ENST00000344576.2_Missense_Mutation_p.E317K|EGFR_ENST00000454757.2_Missense_Mutation_p.E264K|EGFR_ENST00000442591.1_Missense_Mutation_p.E317K|EGFR_ENST00000342916.3_Missense_Mutation_p.E317K|EGFR_ENST00000420316.2_Missense_Mutation_p.E317K	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	317					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	CGACAGCTATGAGATGGAGGA	0.597		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			79	1220					0	0	1	0	0	A	55223582	G	A	55223582	3	1	136	1	0	0	0	0	1	0	0	0	4993	1291	45	2	979	2	EGFR	7	55223582	Missense_Mutation	SNP	G	TCGA-DU-A5TY-01A-11D-A289-08	26097426	55223582	103915081	31	21934			2	11	26097426	2	2	13	G		2.635902e-05
EGFR	1956	broad.mit.edu	37	7	55223594	55223594	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr7:55223594G>T	ENST00000275493.2	+	8	1138	c.961G>T	c.(961-963)Gac>Tac	p.D321Y	EGFR_ENST00000455089.1_Missense_Mutation_p.D276Y|EGFR_ENST00000344576.2_Missense_Mutation_p.D321Y|EGFR_ENST00000454757.2_Missense_Mutation_p.D268Y|EGFR_ENST00000442591.1_Missense_Mutation_p.D321Y|EGFR_ENST00000342916.3_Missense_Mutation_p.D321Y|EGFR_ENST00000420316.2_Missense_Mutation_p.D321Y	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	321					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	GATGGAGGAAGACGGCGTCCG	0.602		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			76	1007					2.23044e-30	2.47826e-30	1	1	0	T	55223594	G	T	55223594	3	4	136	1	0	0	0	0	1	0	0	0	4993	942	33	4	991	4	EGFR	7	55223594	Missense_Mutation	SNP	G	TCGA-DU-A5TY-01A-11D-A289-08	12	55223594	103915069	32	21935			2	11	26097426	2	2	13	G		2.635902e-05
CHCHD2	51142	broad.mit.edu	37	7	56170668	56170670	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr7:56170668_56170670delGCT	ENST00000395422.3	-	3	497_499	c.335_337delAGC	c.(334-339)cagcct>cct	p.Q112del		NM_016139.2	NP_057223.1	Q9Y6H1	CHCH2_HUMAN	coiled-coil-helix-coiled-coil-helix domain containing 2	112	CHCH.					mitochondrion				endometrium(1)|large_intestine(1)|lung(3)	5	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			TAGAGGCAAGGCTGCTGCTGCTG	0.488													7	650	---	---	---	---						-	56170670	GCT	-	56170668	7	5	136	1	0	1	0	1	0	0	0	0	3338	1203	42	0	126	0	CHCHD2	7	56170668	In_Frame_Del	DEL	GCT	TCGA-DU-A5TY-01A-11D-A289-08	947074	56170668	102967995	33	21936											
FZD9	8326	broad.mit.edu	37	7	72849818	72849818	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr7:72849818G>A	ENST00000344575.3	+	1	1710	c.1481G>A	c.(1480-1482)cGg>cAg	p.R494Q		NM_003508.2	NP_003499.1	O00144	FZD9_HUMAN	frizzled family receptor 9	494					B cell differentiation|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|neuroblast proliferation|vasculature development	cell surface|filopodium membrane|integral to membrane|perinuclear region of cytoplasm	G-protein coupled receptor activity|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|skin(1)	14		Lung NSC(55;0.0659)|all_lung(88;0.152)				CCCGGAGGCCGGAGGGACTGC	0.647													22	163					0	0	1	0	0	A	72849818	G	A	72849818	3	1	136	1	0	0	0	0	1	0	0	0	6172	1116	39	1	1483	1	FZD9	7	72849818	Missense_Mutation	SNP	G	TCGA-DU-A5TY-01A-11D-A289-08	16679150	72849818	86288845	34	21937											
PTN	5764	broad.mit.edu	37	7	136938315	136938315	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr7:136938315C>T	ENST00000348225.2	-	3	612	c.185G>A	c.(184-186)tGt>tAt	p.C62Y	PTN_ENST00000393083.2_Missense_Mutation_p.C62Y	NM_002825.5	NP_002816.1	P21246	PTN_HUMAN	pleiotrophin	62					nervous system development|positive regulation of cell division|positive regulation of cell proliferation|transmembrane receptor protein tyrosine phosphatase signaling pathway	endoplasmic reticulum|extracellular space	growth factor activity|heparin binding|protein phosphatase inhibitor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	23						GCCCAGCCCACAGTCTCCACT	0.498													26	50					0	0	1	0	0	T	136938315	C	T	136938315	3	4	136	1	0	0	0	0	1	0	0	0	12818	478	17	2	333	2	PTN	7	136938315	Missense_Mutation	SNP	C	TCGA-DU-A5TY-01A-11D-A289-08	64088497	136938315	22200348	35	21938											
KCNT1	57582	broad.mit.edu	37	9	138669222	138669222	+	Silent	SNP	C	C	T			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr9:138669222C>T	ENST00000298480.5	+	21	2462	c.2388C>T	c.(2386-2388)taC>taT	p.Y796Y	KCNT1_ENST00000263604.3_Silent_p.Y777Y|KCNT1_ENST00000486577.2_Silent_p.Y755Y|KCNT1_ENST00000487664.1_Silent_p.Y751Y|KCNT1_ENST00000490355.2_Silent_p.Y775Y|KCNT1_ENST00000491806.2_Silent_p.Y763Y|KCNT1_ENST00000488444.2_Silent_p.Y777Y|KCNT1_ENST00000371757.2_Silent_p.Y796Y			B7ZVY4	B7ZVY4_HUMAN	potassium channel, subfamily T, member 1	796						membrane	binding|calcium-activated potassium channel activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		CCAAGGCCTACGGGTTCAAGA	0.602													23	116					0	0	1	0	0	T	138669222	C	T	138669222	2	4	136	1	0	0	0	0	0	0	0	1	8135	547	19	1		1	KCNT1	9	138669222	Silent	SNP	C	TCGA-DU-A5TY-01A-11D-A289-08		138669222	2544209	36	21939											
TRAF2	7186	broad.mit.edu	37	9	139815644	139815644	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr9:139815644G>A	ENST00000359662.3	+	9	1316	c.1271G>A	c.(1270-1272)cGc>cAc	p.R424H	TRAF2_ENST00000536468.1_Missense_Mutation_p.R372H|TRAF2_ENST00000247668.2_Missense_Mutation_p.R372H			Q12933	TRAF2_HUMAN	TNF receptor-associated factor 2	372	MATH.				activation of caspase activity|activation of NF-kappaB-inducing kinase activity|activation of pro-apoptotic gene products|cellular protein complex assembly|induction of apoptosis by extracellular signals|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|protein autoubiquitination|protein homotrimerization|protein K63-linked ubiquitination|tumor necrosis factor-mediated signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane	CD40 receptor binding|enzyme binding|protein binding|signal transducer activity|sphingolipid binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.229)	OV - Ovarian serous cystadenocarcinoma(145;4.48e-06)|Epithelial(140;9.55e-06)		GTGGCTGGCCGCATACCCGCC	0.592													4	96					0	0	1	0	0	A	139815644	G	A	139815644	3	1	136	1	0	0	0	0	1	0	0	0	16499	1087	38	1	1145	1	TRAF2	9	139815644	Missense_Mutation	SNP	G	TCGA-DU-A5TY-01A-11D-A289-08	1146422	139815644	1397787	37	21940											
PHRF1	57661	broad.mit.edu	37	11	592586	592588	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr11:592586_592588delGAG	ENST00000264555.5	+	6	660_662	c.532_534delGAG	c.(532-534)gagdel	p.E181del	PHRF1_ENST00000416188.2_In_Frame_Del_p.E181del|PHRF1_ENST00000533464.1_In_Frame_Del_p.E177del|PHRF1_ENST00000413872.2_In_Frame_Del_p.E180del	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	181	Poly-Glu.						RNA polymerase binding|zinc ion binding			breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						CAAAGCGAGCGAGGAGGAGGAGG	0.616													7	207	---	---	---	---						-	592588	GAG	-	592586	7	5	136	1	0	1	0	1	0	0	0	0	11909	1059	37	0	550	0	PHRF1	11	592586	In_Frame_Del	DEL	GAG	TCGA-DU-A5TY-01A-11D-A289-08		592586	134413930	38	21941											
GRM5	2915	broad.mit.edu	37	11	88780946	88780946	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr11:88780946G>A	ENST00000418177.2	-	2	462	c.95C>T	c.(94-96)cCg>cTg	p.P32L	GRM5_ENST00000305447.4_Missense_Mutation_p.P32L|GRM5_ENST00000455756.2_Missense_Mutation_p.P32L|GRM5_ENST00000305432.5_Missense_Mutation_p.P32L|GRM5_ENST00000393294.3_Missense_Mutation_p.P32L|GRM5_ENST00000393297.1_Missense_Mutation_p.P32L			P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	32					activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	p.P32Q(2)|p.P32L(1)		NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	GATGTCACCCGGCATGTGAGC	0.502													13	31					0	0	1	0	0	A	88780946	G	A	88780946	3	1	136	1	0	0	0	0	1	0	0	0	6841	1116	39	1	3579	1	GRM5	11	88780946	Missense_Mutation	SNP	G	TCGA-DU-A5TY-01A-11D-A289-08	88188360	88780946	46225570	39	21942											
ARID2	196528	broad.mit.edu	37	12	46231286	46231286	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr12:46231286G>A	ENST00000334344.6	+	10	1298	c.1126G>A	c.(1126-1128)Gaa>Aaa	p.E376K	ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000422737.1_Missense_Mutation_p.E227K|ARID2_ENST00000444670.1_Missense_Mutation_p.E5K	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	376					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	p.E376*(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		TTCAGGCATGGAAATTTTGGG	0.303			"N, S, F"		hepatocellular carcinoma								4	69					0	0	1	0	0	A	46231286	G	A	46231286	3	1	136	1	0	0	0	0	1	0	0	0	912	1175	41	2	1164	2	ARID2	12	46231286	Missense_Mutation	SNP	G	TCGA-DU-A5TY-01A-11D-A289-08		46231286	87620609	40	21943	110	2									
ARID2	196528	broad.mit.edu	37	12	46231295	46231295	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr12:46231295G>C	ENST00000334344.6	+	10	1307	c.1135G>C	c.(1135-1137)Gga>Cga	p.G379R	ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000422737.1_Missense_Mutation_p.G230R|ARID2_ENST00000444670.1_Missense_Mutation_p.G8R	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	379					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		GGAAATTTTGGGAAATCTTTG	0.318			"N, S, F"		hepatocellular carcinoma								4	72					0	0	1	0	0	C	46231295	G	C	46231295	3	2	136	1	0	0	0	0	1	0	0	0	912	1233	43	5	1173	5	ARID2	12	46231295	Missense_Mutation	SNP	G	TCGA-DU-A5TY-01A-11D-A289-08	9	46231295	87620600	41	21944	110	2									
KRT5	3852	broad.mit.edu	37	12	52913802	52913802	+	Silent	SNP	G	G	A			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr12:52913802G>A	ENST00000252242.4	-	1	669	c.279C>T	c.(277-279)ggC>ggT	p.G93G		NM_000424.3	NP_000415.2	P13647	K2C5_HUMAN	keratin 5	93	Gly-rich.|Head.				epidermis development|hemidesmosome assembly	cytosol|keratin filament	protein binding|structural constituent of cytoskeleton			endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2)	35				BRCA - Breast invasive adenocarcinoma(357;0.189)		agccatagccgcctccagcac	0.617													4	121					0	0	1	0	0	A	52913802	G	A	52913802	2	1	136	1	0	0	0	0	0	0	0	1	8522	1074	38	1		1	KRT5	12	52913802	Silent	SNP	G	TCGA-DU-A5TY-01A-11D-A289-08	6682507	52913802	80938093	42	21945											
MBD6	114785	broad.mit.edu	37	12	57919681	57919681	+	Silent	SNP	G	G	A			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr12:57919681G>A	ENST00000355673.3	+	6	1286	c.930G>A	c.(928-930)gtG>gtA	p.V310V	MBD6_ENST00000431731.2_Silent_p.V310V	NM_052897.3	NP_443129.3	Q96DN6	MBD6_HUMAN	methyl-CpG binding domain protein 6	310	Pro-rich.					chromosome|nucleus	chromatin binding|DNA binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						CCCCCACGGTGGAGGGGCCTG	0.687													18	1104					0	0	1	0	0	A	57919681	G	A	57919681	2	1	136	1	0	0	0	0	0	0	0	1	9398	1335	47	2		2	MBD6	12	57919681	Silent	SNP	G	TCGA-DU-A5TY-01A-11D-A289-08	5005879	57919681	75932214	43	21946											
KIF5A	3798	broad.mit.edu	37	12	57972048	57972048	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr12:57972048delG	ENST00000455537.2	+	23	2735	c.2461delG	c.(2461-2463)gggfs	p.G822fs	KIF5A_ENST00000286452.5_Frame_Shift_Del_p.G733fs	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN	kinesin family member 5A	822					blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						CGAAGACAGTGGGGGGATTCA	0.502													7	2055	---	---	---	---						-	57972048	G	-	57972048	7	5	136	1	0	1	0	1	0	0	0	0	8347	1348	47	0	2551	0	KIF5A	12	57972048	Frame_Shift_Del	DEL	G	TCGA-DU-A5TY-01A-11D-A289-08	52367	57972048	75879847	44	21947											
TSFM	10102	broad.mit.edu	37	12	58177051	58177052	+	Frame_Shift_Ins	INS	-	-	G			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr12:58177051_58177052insG	ENST00000454289.3	+	2	429_430	c.216_217insG	c.(217-219)gggfs	p.G73fs	TSFM_ENST00000540550.1_Frame_Shift_Ins_p.G73fs|RP11-571M6.15_ENST00000471530.1_Frame_Shift_Ins_p.AG87fs|TSFM_ENST00000497617.1_3'UTR|TSFM_ENST00000548851.1_Frame_Shift_Ins_p.G73fs|TSFM_ENST00000543727.1_Frame_Shift_Ins_p.G73fs|TSFM_ENST00000350762.5_5'UTR|RP11-571M6.15_ENST00000553083.1_3'UTR|TSFM_ENST00000550559.1_Frame_Shift_Ins_p.G73fs|TSFM_ENST00000323833.8_Frame_Shift_Ins_p.G73fs	NM_005726.5	NP_005717.3	P43897	EFTS_HUMAN	Ts translation elongation factor, mitochondrial	73					regulation of transcription elongation, DNA-dependent	mitochondrion|nucleus	translation elongation factor activity			endometrium(1)|kidney(1)|large_intestine(5)|prostate(1)	8	all_cancers(7;6.31e-80)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)					AGACTTGTGGCGGGGACCTCAA	0.569													12	2786	---	---	---	---						G	58177052	-	G	58177051	7	5	136	1	0	1	1	0	0	0	0	0	16676	755	27	0	222	0	TSFM	12	58177051	Frame_Shift_Ins	INS	-	TCGA-DU-A5TY-01A-11D-A289-08	205003	58177051	75674844	45	21948											
AVIL	10677	broad.mit.edu	37	12	58204896	58204896	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr12:58204896delC	ENST00000537081.1	-	4	331	c.332delG	c.(331-333)ggtfs	p.G111fs	AVIL_ENST00000257861.3_Frame_Shift_Del_p.G118fs			O75366	AVIL_HUMAN	advillin	118	Core (By similarity).|Polyphosphoinositide binding (By similarity).				actin filament capping|cilium morphogenesis|cytoskeleton organization|positive regulation of neuron projection development	actin cytoskeleton|axon|cytoplasm	actin binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(6)	32	Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)					AGAGGCGACACCCCCCTGCTT	0.512													7	1043	---	---	---	---						-	58204896	C	-	58204896	7	5	136	1	0	1	0	1	0	0	0	0	1225	507	18	0	2170	0	AVIL	12	58204896	Frame_Shift_Del	DEL	C	TCGA-DU-A5TY-01A-11D-A289-08	27845	58204896	75646999	46	21949											
C12orf56	115749	broad.mit.edu	37	12	64746733	64746733	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr12:64746733G>C	ENST00000543942.2	-	2	982	c.356C>G	c.(355-357)tCa>tGa	p.S119*	C12orf56_ENST00000333722.5_Nonsense_Mutation_p.S119*|RPS11P6_ENST00000535684.1_RNA	NM_001170633.1	NP_001164104.1	Q8IXR9	CL056_HUMAN	chromosome 12 open reading frame 56	119										NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)	15			GBM - Glioblastoma multiforme(3;0.000582)	GBM - Glioblastoma multiforme(28;0.0259)		GACACTGTTTGACTTTTTACA	0.358													9	255					0	0	1	0	0	C	64746733	G	C	64746733	4	2	136	1	0	0	0	0	0	1	0	0	1706	1294	45	5	1560	5	C12orf56	12	64746733	Nonsense_Mutation	SNP	G	TCGA-DU-A5TY-01A-11D-A289-08	6541837	64746733	69105162	47	21950											
PTPRR	5801	broad.mit.edu	37	12	71094989	71094989	+	Silent	SNP	G	G	A			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr12:71094989G>A	ENST00000283228.2	-	7	1574	c.1122C>T	c.(1120-1122)gcC>gcT	p.A374A	PTPRR_ENST00000378778.1_Silent_p.A168A|PTPRR_ENST00000440835.2_Silent_p.A129A|PTPRR_ENST00000342084.4_Silent_p.A262A|PTPRR_ENST00000549308.1_Silent_p.A129A	NM_002849.3	NP_002840.2	Q15256	PTPRR_HUMAN	protein tyrosine phosphatase, receptor type, R	374					in utero embryonic development	cell surface|Golgi apparatus|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)		GAATTCGGCTGGCTGACTGCA	0.453													287	321					0	0	1	0	0	A	71094989	G	A	71094989	2	1	136	1	0	0	0	0	0	0	0	1	12862	1335	47	2		2	PTPRR	12	71094989	Silent	SNP	G	TCGA-DU-A5TY-01A-11D-A289-08	6348256	71094989	62756906	48	21951			3	12		2	2	12	G		2.416246e-05
PTPRR	5801	broad.mit.edu	37	12	71095000	71095000	+	Silent	SNP	G	G	A			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr12:71095000G>A	ENST00000283228.2	-	7	1563	c.1111C>T	c.(1111-1113)Ctg>Ttg	p.L371L	PTPRR_ENST00000378778.1_Silent_p.L165L|PTPRR_ENST00000440835.2_Silent_p.L126L|PTPRR_ENST00000342084.4_Silent_p.L259L|PTPRR_ENST00000549308.1_Silent_p.L126L	NM_002849.3	NP_002840.2	Q15256	PTPRR_HUMAN	protein tyrosine phosphatase, receptor type, R	371					in utero embryonic development	cell surface|Golgi apparatus|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)		GCTGACTGCAGATACTCCATT	0.468													278	321					0	0	1	0	0	A	71095000	G	A	71095000	2	1	136	1	0	0	0	0	0	0	0	1	12862	933	33	2		2	PTPRR	12	71095000	Silent	SNP	G	TCGA-DU-A5TY-01A-11D-A289-08	11	71095000	62756895	49	21952			3	12		2	2	12	G		2.416246e-05
KSR2	283455	broad.mit.edu	37	12	117962802	117962802	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr12:117962802G>A	ENST00000425217.1	-	14	2041	c.1987C>T	c.(1987-1989)Cgg>Tgg	p.R663W	KSR2_ENST00000302438.5_Missense_Mutation_p.R389W|KSR2_ENST00000339824.5_Missense_Mutation_p.R692W|KSR2_ENST00000545002.1_5'UTR	NM_173598.4	NP_775869.3	Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	692					intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TCAATCAGCCGGATGGCCACC	0.597													14	36					0	0	1	0	0	A	117962802	G	A	117962802	3	1	136	1	0	0	0	0	1	0	0	0	8621	1115	39	1	806	1	KSR2	12	117962802	Missense_Mutation	SNP	G	TCGA-DU-A5TY-01A-11D-A289-08	46867802	117962802	15889093	50	21953											
AMN	81693	broad.mit.edu	37	14	103396394	103396394	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr14:103396394delG	ENST00000299155.5	+	9	1010	c.977delG	c.(976-978)cggfs	p.R326fs		NM_030943.3	NP_112205.2	Q9BXJ7	AMNLS_HUMAN	amnion associated transmembrane protein	326					lipid metabolic process|lipoprotein metabolic process|multicellular organismal development	integral to membrane|plasma membrane				kidney(2)|large_intestine(1)|lung(2)|skin(1)	6				Colorectal(3;0.00739)|READ - Rectum adenocarcinoma(2;0.0336)|Epithelial(152;0.0363)|all cancers(159;0.147)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CGGCTGGCCCGGGCCCTCCTG	0.761													2	4	---	---	---	---						-	103396394	G	-	103396394	7	5	136	1	0	1	0	1	0	0	0	0	576	1116	39	0	1011	0	AMN	14	103396394	Frame_Shift_Del	DEL	G	TCGA-DU-A5TY-01A-11D-A289-08		103396394	3953146	51	21954											
ISLR2	57611	broad.mit.edu	37	15	74426192	74426192	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr15:74426192C>T	ENST00000361742.3	+	4	1866	c.1097C>T	c.(1096-1098)aCg>aTg	p.T366M	ISLR2_ENST00000561975.1_Intron|ISLR2_ENST00000565159.1_Missense_Mutation_p.T366M|ISLR2_ENST00000453268.2_Missense_Mutation_p.T366M|ISLR2_ENST00000565540.1_Missense_Mutation_p.T366M|ISLR2_ENST00000435464.1_Missense_Mutation_p.T366M|ISLR2_ENST00000419208.1_Missense_Mutation_p.T366M|ISLR2_ENST00000445793.1_Missense_Mutation_p.T366M	NM_001130136.1|NM_020851.2	NP_001123608.1|NP_065902.1	Q6UXK2	ISLR2_HUMAN	immunoglobulin superfamily containing leucine-rich repeat 2	366	Ig-like.				positive regulation of axon extension	cell surface|integral to membrane|plasma membrane				breast(3)|endometrium(6)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36						GCCAACTCTACGTCAATACGC	0.672													14	18					0	0	1	0	0	T	74426192	C	T	74426192	3	4	136	1	0	0	0	0	1	0	0	0	7903	536	19	1	1099	1	ISLR2	15	74426192	Missense_Mutation	SNP	C	TCGA-DU-A5TY-01A-11D-A289-08		74426192	28105200	52	21955											
GNAO1	2775	broad.mit.edu	37	16	56377821	56377821	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr16:56377821G>A	ENST00000262494.7	+	8	1284	c.1024G>A	c.(1024-1026)Gtc>Atc	p.V342I	GNAO1_ENST00000262493.6_Intron	NM_138736.2	NP_620073.2	P09471	GNAO_HUMAN	guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O	342					dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|muscle contraction	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|metabotropic serotonin receptor binding|signal transducer activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)	17		all_neural(199;0.159)				TGTGACGGACGTCATCATCGC	0.622													22	59					0	0	1	0	0	A	56377821	G	A	56377821	3	1	136	1	0	0	0	0	1	0	0	0	6550	1145	40	1	1054	1	GNAO1	16	56377821	Missense_Mutation	SNP	G	TCGA-DU-A5TY-01A-11D-A289-08		56377821	33976932	53	21956											
DPEP3	64180	broad.mit.edu	37	16	68014019	68014019	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr16:68014019G>A	ENST00000268793.4	-	1	713	c.340C>T	c.(340-342)Cgg>Tgg	p.R114W	DPEP3_ENST00000574342.1_5'UTR	NM_001129758.1|NM_022357.3	NP_001123230.1|NP_071752.3	Q9H4B8	DPEP3_HUMAN	dipeptidase 3	89					meiosis	anchored to membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity			breast(4)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)	20		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0117)|Epithelial(162;0.0481)|all cancers(182;0.236)		GGGAAACTCCGCATCAGGGCC	0.652													6	85					0	0	1	0	0	A	68014019	G	A	68014019	3	1	136	1	0	0	0	0	1	0	0	0	4742	1086	38	1	1241	1	DPEP3	16	68014019	Missense_Mutation	SNP	G	TCGA-DU-A5TY-01A-11D-A289-08	11636198	68014019	22340734	54	21957											
KRT24	192666	broad.mit.edu	37	17	38857428	38857428	+	Silent	SNP	G	G	A			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr17:38857428G>A	ENST00000264651.2	-	3	875	c.819C>T	c.(817-819)acC>acT	p.T273T		NM_019016.2	NP_061889.2	Q2M2I5	K1C24_HUMAN	keratin 24	273	Coil 1B.|Rod.					cytoplasm|intermediate filament	structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00526)				CTAGCTCCTCGGTGAAACTCT	0.498													34	64					0	0	1	0	0	A	38857428	G	A	38857428	2	1	136	1	0	0	0	0	0	0	0	1	8504	1103	39	1		1	KRT24	17	38857428	Silent	SNP	G	TCGA-DU-A5TY-01A-11D-A289-08		38857428	42337782	55	21958											
KRTAP1-5	83895	broad.mit.edu	37	17	39183089	39183089	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr17:39183089C>T	ENST00000361883.5	-	1	365	c.319G>A	c.(319-321)Ggc>Agc	p.G107S		NM_031957.1	NP_114163.1	Q9BYS1	KRA15_HUMAN	keratin associated protein 1-5	107	15 X 5 AA repeats of C-C-[QEPVRC]- [TPIVLE]-[SRHVP].					keratin filament				central_nervous_system(1)|endometrium(2)|kidney(1)|lung(9)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	17		Breast(137;0.00043)	STAD - Stomach adenocarcinoma(17;0.000371)			CCACTGCTGCCCTCCTGGCCA	0.637													11	34					0	0	1	0	0	T	39183089	C	T	39183089	3	4	136	1	0	0	0	0	1	0	0	0	8547	623	22	2	209	2	KRTAP1-5	17	39183089	Missense_Mutation	SNP	C	TCGA-DU-A5TY-01A-11D-A289-08	325661	39183089	42012121	56	21959											
DSG1	1828	broad.mit.edu	37	18	28923927	28923927	+	Silent	SNP	C	C	T			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr18:28923927C>T	ENST00000257192.4	+	13	2072	c.1860C>T	c.(1858-1860)aaC>aaT	p.N620N	DSG1_ENST00000462981.2_5'UTR|RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000578119.1_RNA	NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	620					calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			CACCTGATAACGCAAATATAA	0.323													7	38					0	0	1	0	0	T	28923927	C	T	28923927	2	4	136	1	0	0	0	0	0	0	0	1	4802	535	19	1		1	DSG1	18	28923927	Silent	SNP	C	TCGA-DU-A5TY-01A-11D-A289-08		28923927	49153321	57	21960											
CCBE1	147372	broad.mit.edu	37	18	57136832	57136832	+	Translation_Start_Site	SNP	G	G	A			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr18:57136832G>A	ENST00000398179.2	-	0	62				CCBE1_ENST00000439986.4_Silent_p.D91D			Q6UXH8	CCBE1_HUMAN	collagen and calcium binding EGF domains 1						lymphangiogenesis|sprouting angiogenesis|venous blood vessel morphogenesis	collagen	calcium ion binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(3)	24		Colorectal(73;0.175)				CGGCACAAACGTCGTAATCTG	0.552													56	181					0	0	1	0	0	A	57136832	G	A	57136832	1	1	136	1	0	0	0	0	0	0	0	0	2749	1136	40	1		1	CCBE1	18	57136832	Translation_Start_Site	SNP	G	TCGA-DU-A5TY-01A-11D-A289-08	28212905	57136832	20940416	58	21961											
BTBD2	55643	broad.mit.edu	37	19	1987539	1987539	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr19:1987539C>T	ENST00000255608.4	-	6	1157	c.1141G>A	c.(1141-1143)Gag>Aag	p.E381K		NM_017797.3	NP_060267.2	Q9BX70	BTBD2_HUMAN	BTB (POZ) domain containing 2	381						cytoplasmic mRNA processing body	protein binding			endometrium(5)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|stomach(1)	12		Ovarian(11;2.11e-07)|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)		CAGCGACTCTCCACCTGCTGG	0.667													6	18					0	0	1	0	0	T	1987539	C	T	1987539	3	4	136	1	0	0	0	0	1	0	0	0	1546	864	30	2	452	2	BTBD2	19	1987539	Missense_Mutation	SNP	C	TCGA-DU-A5TY-01A-11D-A289-08		1987539	57141444	59	21962											
ILF3	3609	broad.mit.edu	37	19	10793939	10793939	+	Splice_Site	SNP	G	G	A			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr19:10793939G>A	ENST00000449870.1	+	14	2003		c.e14+1		ILF3_ENST00000407004.3_Splice_Site|ILF3_ENST00000318511.3_Splice_Site|ILF3_ENST00000588657.1_Splice_Site|ILF3_ENST00000420083.1_Splice_Site|ILF3_ENST00000592763.1_Splice_Site|ILF3_ENST00000250241.8_Splice_Site|ILF3_ENST00000589998.1_Splice_Site|ILF3_ENST00000590261.1_Splice_Site	NM_017620.2	NP_060090.2	Q12906	ILF3_HUMAN	interleukin enhancer binding factor 3, 90kDa						M phase|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleolus|ribonucleoprotein complex	DNA binding|double-stranded RNA binding|protein binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31			Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)			CGTCATGGAGGTGCGCAGCCT	0.637													4	86					0	0	1	0	0	A	10793939	G	A	10793939	5	1	136	1	0	0	0	0	0	0	1	0	7756	1275	44	2	1737	2	ILF3	19	10793939	Splice_Site	SNP	G	TCGA-DU-A5TY-01A-11D-A289-08	8806400	10793939	48335044	60	21963											
SLC5A5	6528	broad.mit.edu	37	19	18001745	18001745	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr19:18001745G>A	ENST00000222248.3	+	14	2049	c.1702G>A	c.(1702-1704)Gca>Aca	p.A568T		NM_000453.2	NP_000444.1	Q92911	SC5A5_HUMAN	solute carrier family 5 (sodium/iodide cotransporter), member 5	568					cellular nitrogen compound metabolic process|cellular response to cAMP|cellular response to gonadotropin stimulus|hormone biosynthetic process	integral to membrane|nucleus|plasma membrane	iodide transmembrane transporter activity|sodium:iodide symporter activity	p.A568T(1)		NS(2)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						GTGGGACCTCGCACGGCAGAC	0.592													34	163					0	0	1	0	0	A	18001745	G	A	18001745	3	1	136	1	0	0	0	0	1	0	0	0	14723	1087	38	1	1756	1	SLC5A5	19	18001745	Missense_Mutation	SNP	G	TCGA-DU-A5TY-01A-11D-A289-08	7207806	18001745	41127238	61	21964											
NAPSA	9476	broad.mit.edu	37	19	50864253	50864253	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr19:50864253C>T	ENST00000253719.2	-	5	821	c.613G>A	c.(613-615)Gta>Ata	p.V205I	NR1H2_ENST00000542413.1_Intron|NR1H2_ENST00000600978.1_Intron	NM_004851.1	NP_004842.1	O96009	NAPSA_HUMAN	napsin A aspartic peptidase	205					proteolysis	extracellular region	aspartic-type endopeptidase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(3)	12		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0183)		TCCACCAGTACATCCATCGGG	0.527													27	68					0	0	1	0	0	T	50864253	C	T	50864253	3	4	136	1	0	0	0	0	1	0	0	0	10214	478	17	2	669	2	NAPSA	19	50864253	Missense_Mutation	SNP	C	TCGA-DU-A5TY-01A-11D-A289-08	32862508	50864253	8264730	62	21965											
SSTR4	6754	broad.mit.edu	37	20	23016235	23016235	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr20:23016235C>T	ENST00000255008.3	+	1	179	c.115C>T	c.(115-117)Ccc>Tcc	p.P39S	RP4-753D10.3_ENST00000440921.1_RNA	NM_001052.2	NP_001043.2	P31391	SSR4_HUMAN	somatostatin receptor 4	39					G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	32	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)					GGTggcggggcccggggacgc	0.736													28	57					0	0	1	0	0	T	23016235	C	T	23016235	3	4	136	1	0	0	0	0	1	0	0	0	15256	739	26	2	117	2	SSTR4	20	23016235	Missense_Mutation	SNP	C	TCGA-DU-A5TY-01A-11D-A289-08		23016235	40009285	63	21966											
UMODL1	89766	broad.mit.edu	37	21	43539224	43539224	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr21:43539224C>T	ENST00000400424.2	+	15	2659	c.2263C>T	c.(2263-2265)Cgg>Tgg	p.R755W	UMODL1_ENST00000400427.1_Missense_Mutation_p.R883W|UMODL1_ENST00000408989.2_Missense_Mutation_p.R955W|UMODL1_ENST00000408910.2_Missense_Mutation_p.R827W	NM_001199528.2	NP_001186457	Q5DID0	UROL1_HUMAN	uromodulin-like 1		Fibronectin type-III 2.					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						CCCGCAGGTGCGGGGCTCCCT	0.632													35	137					0	0	1	0	0	T	43539224	C	T	43539224	3	4	136	1	0	0	0	0	1	0	0	0	17040	759	27	1	2917	1	UMODL1	21	43539224	Missense_Mutation	SNP	C	TCGA-DU-A5TY-01A-11D-A289-08		43539224	4590671	64	21967											
SUV39H1	6839	broad.mit.edu	37	X	48559033	48559033	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chrX:48559033G>C	ENST00000376687.3	+	3	907	c.717G>C	c.(715-717)aaG>aaC	p.K239N	AF196970.3_ENST00000416061.1_RNA|SUV39H1_ENST00000337852.6_Missense_Mutation_p.K250N|SUV39H1_ENST00000453214.2_Missense_Mutation_p.R87T	NM_003173.2	NP_003164.1	O43463	SUV91_HUMAN	suppressor of variegation 3-9 homolog 1 (Drosophila)	239	Pre-SET.				cell cycle|cell differentiation|chromatin silencing at rDNA|interspecies interaction between organisms|rRNA processing|transcription, DNA-dependent	chromatin silencing complex|chromosome, centromeric region|condensed nuclear chromosome|rDNA heterochromatin	chromatin binding|histone methyltransferase activity (H3-K9 specific)|protein N-terminus binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	14						TGGTACAGAAGGGTATCCGAT	0.607													33	53					0	0	1	0	0	C	48559033	G	C	48559033	3	2	136	1	0	0	0	0	1	0	0	0	15468	991	35	4	727	4	SUV39H1	23	48559033	Missense_Mutation	SNP	G	TCGA-DU-A5TY-01A-11D-A289-08		48559033	106711527	65	21968											
SHROOM4	57477	broad.mit.edu	37	X	50378311	50378311	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chrX:50378311C>A	ENST00000376020.2	-	4	787	c.762G>T	c.(760-762)atG>atT	p.M254I	SHROOM4_ENST00000289292.7_Missense_Mutation_p.M254I|SHROOM4_ENST00000460112.3_Missense_Mutation_p.M138I	NM_020717.3	NP_065768.2	Q9ULL8	SHRM4_HUMAN	shroom family member 4	254					actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					GACGGGATGACATCTGAGAGC	0.652													6	13					8.12818e-05	8.23107e-05	1	1	0	A	50378311	C	A	50378311	3	1	136	1	0	0	0	0	1	0	0	0	14351	478	17	5	3743	5	SHROOM4	23	50378311	Missense_Mutation	SNP	C	TCGA-DU-A5TY-01A-11D-A289-08	1819278	50378311	104892249	66	21969											
HEPH	9843	broad.mit.edu	37	X	65414952	65414952	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chrX:65414952delG	ENST00000519389.1	+	9	1723	c.1544delG	c.(1543-1545)cggfs	p.R515fs	HEPH_ENST00000441993.2_Frame_Shift_Del_p.R464fs|HEPH_ENST00000343002.2_Frame_Shift_Del_p.R461fs|HEPH_ENST00000419594.1_Frame_Shift_Del_p.R464fs|HEPH_ENST00000374727.3_Frame_Shift_Del_p.R464fs|HEPH_ENST00000336279.5_Frame_Shift_Del_p.R194fs			Q9BQS7	HEPH_HUMAN	hephaestin	461	Plastocyanin-like 3.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						CCAGTGATCCGGGCTGAGGTG	0.502													25	48	---	---	---	---						-	65414952	G	-	65414952	7	5	136	1	0	1	0	1	0	0	0	0	7095	1116	39	0	1578	0	HEPH	23	65414952	Frame_Shift_Del	DEL	G	TCGA-DU-A5TY-01A-11D-A289-08	15036641	65414952	89855608	67	21970											
RNF128	79589	broad.mit.edu	37	X	105937389	105937389	+	Missense_Mutation	SNP	G	G	A	rs146627932		TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chrX:105937389G>A	ENST00000324342.3	+	1	322	c.157G>A	c.(157-159)Gtt>Att	p.V53I		NM_024539.3	NP_078815.3	Q8TEB7	RN128_HUMAN	ring finger protein 128, E3 ubiquitin protein ligase	70						endomembrane system|integral to membrane|perinuclear region of cytoplasm	zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)	11						TGAATGTGGCGTTTATGGATT	0.398													12	117					0	0	1	0	0	A	105937389	G	A	105937389	3	1	136	1	0	0	0	0	1	0	0	0	13488	1145	40	1	159	1	RNF128	23	105937389	Missense_Mutation	SNP	G	TCGA-DU-A5TY-01A-11D-A289-08	40522437	105937389	49333171	68	21971											
VSIG1	340547	broad.mit.edu	37	X	107316040	107316040	+	Silent	SNP	C	C	T			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chrX:107316040C>T	ENST00000415430.3	+	5	815	c.654C>T	c.(652-654)atC>atT	p.I218I	VSIG1_ENST00000485533.1_3'UTR|VSIG1_ENST00000217957.5_Silent_p.I182I	NM_001170553.1	NP_001164024.1	Q86XK7	VSIG1_HUMAN	V-set and immunoglobulin domain containing 1	182	Ig-like C2-type 2.					integral to membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	17						GAAGAGACATCGTGCCAGTGA	0.507													33	71					0	0	1	0	0	T	107316040	C	T	107316040	2	4	136	1	0	0	0	0	0	0	0	1	17282	874	31	1		1	VSIG1	23	107316040	Silent	SNP	C	TCGA-DU-A5TY-01A-11D-A289-08	1378651	107316040	47954520	69	21972											
RGAG1	57529	broad.mit.edu	37	X	109698484	109698484	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chrX:109698484G>T	ENST00000465301.2	+	4	4348	c.4102G>T	c.(4102-4104)Gaa>Taa	p.E1368*	RGAG1_ENST00000540313.1_Nonsense_Mutation_p.E1368*	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	1368										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						AGACCCCCAAGAAGGTCTTCA	0.468													23	183					2.32416e-17	2.5126e-17	1	1	0	T	109698484	G	T	109698484	4	4	136	1	0	0	0	0	0	1	0	0	13326	943	33	4	4108	4	RGAG1	23	109698484	Nonsense_Mutation	SNP	G	TCGA-DU-A5TY-01A-11D-A289-08	2382444	109698484	45572076	70	21973											
SH2D1A	4068	broad.mit.edu	37	X	123480556	123480556	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chrX:123480556G>T	ENST00000371139.4	+	1	363	c.64G>T	c.(64-66)Gcc>Tcc	p.A22S	SH2D1A_ENST00000477673.2_Missense_Mutation_p.A22S|SH2D1A_ENST00000360027.4_Missense_Mutation_p.A22S|STAG2_ENST00000469481.1_Intron|SH2D1A_ENST00000491950.1_3'UTR	NM_001114937.2|NM_002351.4	NP_001108409.1|NP_002342.1	O60880	SH21A_HUMAN	SH2 domain containing 1A	22	SH2.				cell-cell signaling|cellular defense response	cytoplasm	SH3/SH2 adaptor activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						GCTCCTGCTTGCCACTGGGCT	0.592													33	74					2.46105e-21	2.69704e-21	1	1	0	T	123480556	G	T	123480556	3	4	136	1	0	0	0	0	1	0	0	0	14284	1319	46	5	66	5	SH2D1A	23	123480556	Missense_Mutation	SNP	G	TCGA-DU-A5TY-01A-11D-A289-08	13782072	123480556	31790004	71	21974											
SH2D1A	4068	broad.mit.edu	37	X	123504071	123504071	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chrX:123504071C>G	ENST00000371139.4	+	3	546	c.247C>G	c.(247-249)Ctc>Gtc	p.L83V	SH2D1A_ENST00000477673.2_Intron|SH2D1A_ENST00000360027.4_Missense_Mutation_p.L83V|STAG2_ENST00000469481.1_Intron|SH2D1A_ENST00000491950.1_3'UTR	NM_001114937.2|NM_002351.4	NP_001108409.1|NP_002342.1	O60880	SH21A_HUMAN	SH2 domain containing 1A	83	SH2.				cell-cell signaling|cellular defense response	cytoplasm	SH3/SH2 adaptor activity	p.L83V(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						AATAAAAAATCTCATTTCAGC	0.373													4	130					0	0	1	0	0	G	123504071	C	G	123504071	3	3	136	1	0	0	0	0	1	0	0	0	14284	913	32	4	257	4	SH2D1A	23	123504071	Missense_Mutation	SNP	C	TCGA-DU-A5TY-01A-11D-A289-08	23515	123504071	31766489	72	21975											
USP24	23358	broad.mit.edu	37	1	55569612	55569612	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DU-A6S2-01A-21D-A32B-08	TCGA-DU-A6S2-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d3cef6-c768-44ae-934f-fd728808a0e0	7ef54b90-9886-4974-9edf-81deb8bc2af2	g.chr1:55569612delA	ENST00000294383.6	-	42	4961	c.4962delT	c.(4960-4962)attfs	p.I1656fs	USP24_ENST00000407756.1_Frame_Shift_Del_p.I1496fs	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN	ubiquitin specific peptidase 24	1656					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						CTTTTATAATAATTTGAAGAT	0.383													2	4	---	---	---	---						-	55569612	A	-	55569612	7	5	137	1	0	1	0	1	0	0	0	0	17115	358	13	0	3008	0	USP24	1	55569612	Frame_Shift_Del	DEL	A	TCGA-DU-A6S2-01A-21D-A32B-08		55569612	193681009	1	21976											
FUBP1	8880	broad.mit.edu	37	1	78430388	78430389	+	Frame_Shift_Ins	INS	-	-	AG			TCGA-DU-A6S2-01A-21D-A32B-08	TCGA-DU-A6S2-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d3cef6-c768-44ae-934f-fd728808a0e0	7ef54b90-9886-4974-9edf-81deb8bc2af2	g.chr1:78430388_78430389insAG	ENST00000370767.1	-	10	866_867	c.779_780insCT	c.(778-780)ggtfs	p.G260fs	FUBP1_ENST00000370768.2_Frame_Shift_Ins_p.G260fs|FUBP1_ENST00000436586.2_Frame_Shift_Ins_p.G281fs			Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1	260					transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						CTTCTCTGAAACCGCCTTGATC	0.347			"F, N"		oligodendroglioma								31	62	---	---	---	---						AG	78430389	-	AG	78430388	7	5	137	1	0	1	1	0	0	0	0	0	6127	30	2	0	1198	0	FUBP1	1	78430388	Frame_Shift_Ins	INS	-	TCGA-DU-A6S2-01A-21D-A32B-08	22860776	78430388	170820233	2	21977											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-DU-A6S2-01A-21D-A32B-08	TCGA-DU-A6S2-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d3cef6-c768-44ae-934f-fd728808a0e0	7ef54b90-9886-4974-9edf-81deb8bc2af2	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								12	16					0	0	1	0	0	T	209113112	C	T	209113112	3	4	137	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-DU-A6S2-01A-21D-A32B-08		209113112	34086261	3	21978											
LIMCH1	22998	broad.mit.edu	37	4	41687760	41687760	+	Missense_Mutation	SNP	C	C	T	rs147660035		TCGA-DU-A6S2-01A-21D-A32B-08	TCGA-DU-A6S2-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d3cef6-c768-44ae-934f-fd728808a0e0	7ef54b90-9886-4974-9edf-81deb8bc2af2	g.chr4:41687760C>T	ENST00000313860.7	+	23	2903	c.2849C>T	c.(2848-2850)aCg>aTg	p.T950M	LIMCH1_ENST00000503057.1_Missense_Mutation_p.T1334M|LIMCH1_ENST00000511496.1_Missense_Mutation_p.T790M|LIMCH1_ENST00000512820.1_Missense_Mutation_p.T962M|LIMCH1_ENST00000381753.4_Missense_Mutation_p.T783M|LIMCH1_ENST00000508501.1_Missense_Mutation_p.T949M|LIMCH1_ENST00000513024.1_Missense_Mutation_p.T803M|LIMCH1_ENST00000514096.1_Missense_Mutation_p.T790M|LIMCH1_ENST00000512946.1_Missense_Mutation_p.T950M|LIMCH1_ENST00000396595.3_Missense_Mutation_p.T795M|LIMCH1_ENST00000512632.1_Missense_Mutation_p.T873M|LIMCH1_ENST00000509277.1_Missense_Mutation_p.T783M	NM_014988.2	NP_055803.2	Q9UPQ0	LIMC1_HUMAN	LIM and calponin homology domains 1	950					actomyosin structure organization		actin binding|zinc ion binding			central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						TCAAATCCAACGCACAGTTCA	0.443													14	31					0	0	1	0	0	T	41687760	C	T	41687760	3	4	137	1	0	0	0	0	1	0	0	0	8837	536	19	1	2967	1	LIMCH1	4	41687760	Missense_Mutation	SNP	C	TCGA-DU-A6S2-01A-21D-A32B-08		41687760	149466516	4	21979											
SCARB2	950	broad.mit.edu	37	4	77100703	77100703	+	Silent	SNP	G	G	T	rs148029250	by1000genomes	TCGA-DU-A6S2-01A-21D-A32B-08	TCGA-DU-A6S2-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d3cef6-c768-44ae-934f-fd728808a0e0	7ef54b90-9886-4974-9edf-81deb8bc2af2	g.chr4:77100703G>T	ENST00000264896.2	-	4	928	c.579C>A	c.(577-579)ccC>ccA	p.P193P	SCARB2_ENST00000452464.2_Intron	NM_005506.3	NP_005497.1	Q14108	SCRB2_HUMAN	scavenger receptor class B, member 2	193					cell adhesion|protein targeting to lysosome	integral to plasma membrane|lysosomal lumen|lysosomal membrane|membrane fraction	enzyme binding|receptor activity			breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(3)|prostate(2)|skin(1)	22			Lung(101;0.196)			GAGAGATATCGGGCCTGAAAA	0.443													3	65					6.4e-05	6.4e-05	1	1	0	T	77100703	G	T	77100703	2	4	137	1	0	0	0	0	0	0	0	1	13935	1103	39	5		5	SCARB2	4	77100703	Silent	SNP	G	TCGA-DU-A6S2-01A-21D-A32B-08	35412943	77100703	114053573	5	21980											
IBSP	3381	broad.mit.edu	37	4	88731862	88731862	+	Silent	SNP	C	C	T			TCGA-DU-A6S2-01A-21D-A32B-08	TCGA-DU-A6S2-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d3cef6-c768-44ae-934f-fd728808a0e0	7ef54b90-9886-4974-9edf-81deb8bc2af2	g.chr4:88731862C>T	ENST00000226284.5	+	6	418	c.351C>T	c.(349-351)gaC>gaT	p.D117D		NM_004967.3	NP_004958.2	P21815	SIAL_HUMAN	integrin-binding sialoprotein	117	Asp/Glu-rich (acidic).				biomineral tissue development|cell adhesion|ossification					breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)	21		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000333)|COAD - Colon adenocarcinoma(81;0.154)		ATGGAGAGGACGCCACGCCTG	0.423													15	50					0	0	1	0	0	T	88731862	C	T	88731862	2	4	137	1	0	0	0	0	0	0	0	1	7519	535	19	1		1	IBSP	4	88731862	Silent	SNP	C	TCGA-DU-A6S2-01A-21D-A32B-08	11631159	88731862	102422414	6	21981											
PTPRZ1	5803	broad.mit.edu	37	7	121671570	121671570	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-A6S2-01A-21D-A32B-08	TCGA-DU-A6S2-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d3cef6-c768-44ae-934f-fd728808a0e0	7ef54b90-9886-4974-9edf-81deb8bc2af2	g.chr7:121671570T>C	ENST00000393386.2	+	15	5534	c.5123T>C	c.(5122-5124)gTt>gCt	p.V1708A	PTPRZ1_ENST00000449182.1_Missense_Mutation_p.V848A	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	1708					central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						CCAAAGCATGTTGCAGATTTA	0.279													13	34					0	0	1	0	0	C	121671570	T	C	121671570	3	2	137	1	0	0	0	0	1	0	0	0	12866	1725	60	3	5181	3	PTPRZ1	7	121671570	Missense_Mutation	SNP	T	TCGA-DU-A6S2-01A-21D-A32B-08		121671570	37467093	7	21982											
OR2A25	392138	broad.mit.edu	37	7	143771878	143771878	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A6S2-01A-21D-A32B-08	TCGA-DU-A6S2-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d3cef6-c768-44ae-934f-fd728808a0e0	7ef54b90-9886-4974-9edf-81deb8bc2af2	g.chr7:143771878C>T	ENST00000408898.2	+	1	604	c.566C>T	c.(565-567)gCg>gTg	p.A189V		NM_001004488.1	NP_001004488.1	A4D2G3	O2A25_HUMAN	olfactory receptor, family 2, subfamily A, member 25	189					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A189E(1)|p.A189V(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	24	Melanoma(164;0.0783)					CTTGCCTGTGCGGATACCCAC	0.433													26	77					0	0	1	0	0	T	143771878	C	T	143771878	3	4	137	1	0	0	0	0	1	0	0	0	11026	768	27	1	568	1	OR2A25	7	143771878	Missense_Mutation	SNP	C	TCGA-DU-A6S2-01A-21D-A32B-08	22100308	143771878	15366785	8	21983											
LHX2	9355	broad.mit.edu	37	9	126777629	126777629	+	Silent	SNP	C	C	T			TCGA-DU-A6S2-01A-21D-A32B-08	TCGA-DU-A6S2-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d3cef6-c768-44ae-934f-fd728808a0e0	7ef54b90-9886-4974-9edf-81deb8bc2af2	g.chr9:126777629C>T	ENST00000373615.4	+	3	1291	c.552C>T	c.(550-552)gcC>gcT	p.A184A		NM_004789.3	NP_004780.3	P50458	LHX2_HUMAN	LIM homeobox 2	184						nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)	10						TCAACCATGCCGACGTGGCAG	0.692													13	22					0	0	1	0	0	T	126777629	C	T	126777629	2	4	137	1	0	0	0	0	0	0	0	1	8811	639	23	1		1	LHX2	9	126777629	Silent	SNP	C	TCGA-DU-A6S2-01A-21D-A32B-08		126777629	14435802	9	21984											
LDB3	11155	broad.mit.edu	37	10	88439245	88439245	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A6S2-01A-21D-A32B-08	TCGA-DU-A6S2-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d3cef6-c768-44ae-934f-fd728808a0e0	7ef54b90-9886-4974-9edf-81deb8bc2af2	g.chr10:88439245C>T	ENST00000429277.2	+	3	360	c.215C>T	c.(214-216)gCc>gTc	p.A72V	LDB3_ENST00000361373.4_Missense_Mutation_p.A72V|LDB3_ENST00000458213.2_Missense_Mutation_p.A72V|LDB3_ENST00000542786.1_Missense_Mutation_p.A72V|LDB3_ENST00000263066.6_Missense_Mutation_p.A72V|LDB3_ENST00000352360.5_Missense_Mutation_p.A72V|LDB3_ENST00000372066.3_Missense_Mutation_p.A72V|LDB3_ENST00000310944.6_Missense_Mutation_p.A72V|LDB3_ENST00000372056.4_Missense_Mutation_p.A72V	NM_001171610.1	NP_001165081.1	O75112	LDB3_HUMAN	LIM domain binding 3	72	PDZ.					cytoskeleton|perinuclear region of cytoplasm|pseudopodium	zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|soft_tissue(1)	25						ATCAAGTCTGCCAGCTACAAC	0.617													3	46					0	0	1	0	0	T	88439245	C	T	88439245	3	4	137	1	0	0	0	0	1	0	0	0	8736	739	26	2	221	2	LDB3	10	88439245	Missense_Mutation	SNP	C	TCGA-DU-A6S2-01A-21D-A32B-08		88439245	47095502	10	21985											
ANKLE2	23141	broad.mit.edu	37	12	133324458	133324458	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A6S2-01A-21D-A32B-08	TCGA-DU-A6S2-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d3cef6-c768-44ae-934f-fd728808a0e0	7ef54b90-9886-4974-9edf-81deb8bc2af2	g.chr12:133324458C>T	ENST00000539605.1	-	4	7688	c.1004G>A	c.(1003-1005)cGt>cAt	p.R335H	ANKLE2_ENST00000337516.5_Missense_Mutation_p.R397H|ANKLE2_ENST00000357997.5_Missense_Mutation_p.R397H			Q86XL3	ANKL2_HUMAN	ankyrin repeat and LEM domain containing 2	397						cytoplasm|integral to membrane|nuclear envelope				NS(2)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(20)|ovary(1)|urinary_tract(2)	45	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06)		CACCACGTAACGGATACGCTT	0.527													11	27					0	0	1	0	0	T	133324458	C	T	133324458	3	4	137	1	0	0	0	0	1	0	0	0	629	536	19	1	1662	1	ANKLE2	12	133324458	Missense_Mutation	SNP	C	TCGA-DU-A6S2-01A-21D-A32B-08		133324458	527437	11	21986											
RPS6KA5	9252	broad.mit.edu	37	14	91338462	91338462	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-A6S2-01A-21D-A32B-08	TCGA-DU-A6S2-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d3cef6-c768-44ae-934f-fd728808a0e0	7ef54b90-9886-4974-9edf-81deb8bc2af2	g.chr14:91338462T>C	ENST00000261991.3	-	17	2538	c.2365A>G	c.(2365-2367)Aat>Gat	p.N789D	RPS6KA5_ENST00000536315.2_Missense_Mutation_p.N710D	NM_004755.2	NP_004746.2	O75582	KS6A5_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 5	789					axon guidance|epidermal growth factor receptor signaling pathway|histone phosphorylation|innate immune response|interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytoplasm|nucleoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	24		all_cancers(154;0.0148)|Melanoma(154;0.099)|all_epithelial(191;0.146)		Epithelial(152;0.182)|BRCA - Breast invasive adenocarcinoma(234;0.201)		TCCGGGTTATTGCTGTCGGCA	0.512													13	43					0	0	1	0	0	C	91338462	T	C	91338462	3	2	137	1	0	0	0	0	1	0	0	0	13706	1812	63	3	47	3	RPS6KA5	14	91338462	Missense_Mutation	SNP	T	TCGA-DU-A6S2-01A-21D-A32B-08		91338462	16011078	12	21987											
TMEM95	339168	broad.mit.edu	37	17	7258606	7258606	+	Missense_Mutation	SNP	C	C	T	rs150578277		TCGA-DU-A6S2-01A-21D-A32B-08	TCGA-DU-A6S2-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d3cef6-c768-44ae-934f-fd728808a0e0	7ef54b90-9886-4974-9edf-81deb8bc2af2	g.chr17:7258606C>T	ENST00000389982.4	+	1	165	c.83C>T	c.(82-84)tCa>tTa	p.S28L	TMEM95_ENST00000330767.4_Missense_Mutation_p.S28L|TMEM95_ENST00000576060.1_Missense_Mutation_p.S28L			Q3KNT9	TMM95_HUMAN	transmembrane protein 95	28						integral to membrane				large_intestine(1)|lung(2)	3		Prostate(122;0.173)				CACGACTTGTCAGGCCGCCTG	0.637													12	23					0	0	1	0	0	T	7258606	C	T	7258606	3	4	137	1	0	0	0	0	1	0	0	0	16283	838	29	2	85	2	TMEM95	17	7258606	Missense_Mutation	SNP	C	TCGA-DU-A6S2-01A-21D-A32B-08		7258606	73936604	13	21988											
ABCA9	10350	broad.mit.edu	37	17	67023790	67023790	+	Silent	SNP	C	C	T			TCGA-DU-A6S2-01A-21D-A32B-08	TCGA-DU-A6S2-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d3cef6-c768-44ae-934f-fd728808a0e0	7ef54b90-9886-4974-9edf-81deb8bc2af2	g.chr17:67023790C>T	ENST00000340001.4	-	13	1993	c.1782G>A	c.(1780-1782)gtG>gtA	p.V594V	ABCA9_ENST00000370732.2_Silent_p.V594V|ABCA9_ENST00000453985.2_Silent_p.V594V	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	594	ABC transporter 1.				transport	integral to membrane	ATP binding|ATPase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					CCTCTTTCTCCACTTCATGTG	0.353													12	31					0	0	1	0	0	T	67023790	C	T	67023790	2	4	137	1	0	0	0	0	0	0	0	1	39	581	21	2		2	ABCA9	17	67023790	Silent	SNP	C	TCGA-DU-A6S2-01A-21D-A32B-08	59765184	67023790	14171420	14	21989											
THEG	51298	broad.mit.edu	37	19	375793	375793	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A6S2-01A-21D-A32B-08	TCGA-DU-A6S2-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d3cef6-c768-44ae-934f-fd728808a0e0	7ef54b90-9886-4974-9edf-81deb8bc2af2	g.chr19:375793G>A	ENST00000342640.4	-	1	220	c.178C>T	c.(178-180)Cca>Tca	p.P60S	THEG_ENST00000346878.2_Missense_Mutation_p.P60S	NM_016585.4	NP_057669.1	Q9P2T0	THEG_HUMAN	theg spermatid protein	60					cell differentiation|chaperone-mediated protein complex assembly|multicellular organismal development|spermatogenesis	nucleus	protein binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)|soft_tissue(1)	29		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)		TCCTCTTCTGGGTCTTCTGGT	0.642													20	36					0	0	1	0	0	A	375793	G	A	375793	3	1	137	1	0	0	0	0	1	0	0	0	15917	1232	43	2	993	2	THEG	19	375793	Missense_Mutation	SNP	G	TCGA-DU-A6S2-01A-21D-A32B-08		375793	58753190	15	21990											
MAST3	23031	broad.mit.edu	37	19	18234405	18234405	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DU-A6S2-01A-21D-A32B-08	TCGA-DU-A6S2-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d3cef6-c768-44ae-934f-fd728808a0e0	7ef54b90-9886-4974-9edf-81deb8bc2af2	g.chr19:18234405delG	ENST00000262811.6	+	7	486	c.486delG	c.(484-486)acgfs	p.T162fs	MAST3_ENST00000608648.1_3'UTR	NM_015016.1	NP_055831.1	O60307	MAST3_HUMAN	microtubule associated serine/threonine kinase 3								ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1)	31						GCCGTGCAACGGGGACCTTCG	0.607													2	4	---	---	---	---						-	18234405	G	-	18234405	7	5	137	1	0	1	0	1	0	0	0	0	9376	1103	39	0	512	0	MAST3	19	18234405	Frame_Shift_Del	DEL	G	TCGA-DU-A6S2-01A-21D-A32B-08	17858612	18234405	40894578	16	21991											
CIC	23152	broad.mit.edu	37	19	42791721	42791721	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A6S2-01A-21D-A32B-08	TCGA-DU-A6S2-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d3cef6-c768-44ae-934f-fd728808a0e0	7ef54b90-9886-4974-9edf-81deb8bc2af2	g.chr19:42791721C>T	ENST00000572681.2	+	6	3402	c.3334C>T	c.(3334-3336)Ccc>Tcc	p.P1112S	CIC_ENST00000575354.2_Missense_Mutation_p.P203S|CIC_ENST00000160740.3_Missense_Mutation_p.P203S			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	203	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CATCCGGCGGCCCATGAATGC	0.627			"Mis, F, S"		oligodendroglioma								17	15					0	0	1	0	0	T	42791721	C	T	42791721	3	4	137	1	0	0	0	0	1	0	0	0	3446	739	26	2	625	2	CIC	19	42791721	Missense_Mutation	SNP	C	TCGA-DU-A6S2-01A-21D-A32B-08	24557316	42791721	16337262	17	21992											
ZBTB45	84878	broad.mit.edu	37	19	59028510	59028510	+	Silent	SNP	C	C	T			TCGA-DU-A6S2-01A-21D-A32B-08	TCGA-DU-A6S2-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d3cef6-c768-44ae-934f-fd728808a0e0	7ef54b90-9886-4974-9edf-81deb8bc2af2	g.chr19:59028510C>T	ENST00000594051.1	-	2	1011	c.531G>A	c.(529-531)gcG>gcA	p.A177A	ZBTB45_ENST00000600990.1_Silent_p.A177A|ZBTB45_ENST00000354590.3_Silent_p.A177A			Q96K62	ZBT45_HUMAN	zinc finger and BTB domain containing 45	177	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|lung(5)|urinary_tract(1)	11		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0165)|Lung(386;0.18)		GCTGCAAACGCGCGGGCTGGC	0.711											OREG0025700	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	22	24					0	0	1	0	0	T	59028510	C	T	59028510	2	4	137	1	0	0	0	0	0	0	0	1	17605	755	27	1		1	ZBTB45	19	59028510	Silent	SNP	C	TCGA-DU-A6S2-01A-21D-A32B-08	16236789	59028510	100473	18	21993											
PTCHD1	139411	broad.mit.edu	37	X	23411556	23411556	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A6S2-01A-21D-A32B-08	TCGA-DU-A6S2-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d3cef6-c768-44ae-934f-fd728808a0e0	7ef54b90-9886-4974-9edf-81deb8bc2af2	g.chrX:23411556G>A	ENST00000379361.4	+	3	2781	c.1921G>A	c.(1921-1923)Gat>Aat	p.D641N		NM_173495.2	NP_775766.2	Q96NR3	PTHD1_HUMAN	patched domain containing 1	641					cognition|smoothened signaling pathway	integral to membrane|plasma membrane	hedgehog receptor activity			NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2)	42						TGATGAGGTCGATGTAGTGGC	0.403													17	50					0	0	1	0	0	A	23411556	G	A	23411556	3	1	137	1	0	0	0	0	1	0	0	0	12781	1058	37	1	1931	1	PTCHD1	23	23411556	Missense_Mutation	SNP	G	TCGA-DU-A6S2-01A-21D-A32B-08		23411556	131859004	19	21994											
FUBP1	8880	broad.mit.edu	37	1	78428460	78428464	+	Frame_Shift_Del	DEL	TCTTT	TCTTT	-			TCGA-DU-A6S3-01A-12D-A32B-08	TCGA-DU-A6S3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f192a681-2d96-4f8c-8fd1-c4889fadf0c5	00b17af9-fd37-4d43-a8ec-1cdd5246ba25	g.chr1:78428460_78428464delTCTTT	ENST00000370767.1	-	14	1422_1426	c.1335_1339delAAAGA	c.(1333-1341)gaaaagattfs	p.EKI445fs	FUBP1_ENST00000370768.2_Frame_Shift_Del_p.EKI445fs|FUBP1_ENST00000436586.2_Frame_Shift_Del_p.EKI466fs			Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1	445					transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						CTCACACCAATCTTTTCTTCTATGA	0.332			"F, N"		oligodendroglioma								24	20	---	---	---	---						-	78428464	TCTTT	-	78428460	7	5	138	1	0	1	0	1	0	0	0	0	6127	1435	50	0	623	0	FUBP1	1	78428460	Frame_Shift_Del	DEL	TCTTT	TCGA-DU-A6S3-01A-12D-A32B-08		78428460	170822161	1	21995											
KIFAP3	22920	broad.mit.edu	37	1	170003625	170003625	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-A6S3-01A-12D-A32B-08	TCGA-DU-A6S3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f192a681-2d96-4f8c-8fd1-c4889fadf0c5	00b17af9-fd37-4d43-a8ec-1cdd5246ba25	g.chr1:170003625A>C	ENST00000367765.1	-	7	2011	c.510T>G	c.(508-510)ttT>ttG	p.F170L	KIFAP3_ENST00000538366.1_Missense_Mutation_p.F132L|KIFAP3_ENST00000361580.2_Missense_Mutation_p.F210L|KIFAP3_ENST00000367767.1_Missense_Mutation_p.F166L	NM_001204517.1	NP_001191446.1	Q92845	KIFA3_HUMAN	kinesin-associated protein 3	210					blood coagulation|plus-end-directed vesicle transport along microtubule|protein complex assembly|signal transduction	centrosome|condensed nuclear chromosome|cytosol|endoplasmic reticulum|kinesin II complex|spindle microtubule	kinesin binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|prostate(2)|skin(3)|urinary_tract(2)	35	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TAAGTCCATGAAATTGAGAAA	0.299													12	25					0	0	1	0	0	C	170003625	A	C	170003625	3	2	138	1	0	0	0	0	1	0	0	0	8353	243	9	5	1804	5	KIFAP3	1	170003625	Missense_Mutation	SNP	A	TCGA-DU-A6S3-01A-12D-A32B-08	91575165	170003625	79246996	2	21996											
HMCN1	83872	broad.mit.edu	37	1	185987381	185987381	+	Silent	SNP	A	A	G			TCGA-DU-A6S3-01A-12D-A32B-08	TCGA-DU-A6S3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f192a681-2d96-4f8c-8fd1-c4889fadf0c5	00b17af9-fd37-4d43-a8ec-1cdd5246ba25	g.chr1:185987381A>G	ENST00000271588.4	+	34	5596	c.5367A>G	c.(5365-5367)aaA>aaG	p.K1789K	HMCN1_ENST00000367492.2_Silent_p.K1789K	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	1789	Ig-like C2-type 15.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						ATGGACGCAAACTGGTTATTG	0.418													45	98					0	0	1	0	0	G	185987381	A	G	185987381	2	3	138	1	0	0	0	0	0	0	0	1	7261	40	2	3		3	HMCN1	1	185987381	Silent	SNP	A	TCGA-DU-A6S3-01A-12D-A32B-08	15983756	185987381	63263240	3	21997											
OBSCN	84033	broad.mit.edu	37	1	228529181	228529181	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A6S3-01A-12D-A32B-08	TCGA-DU-A6S3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f192a681-2d96-4f8c-8fd1-c4889fadf0c5	00b17af9-fd37-4d43-a8ec-1cdd5246ba25	g.chr1:228529181G>A	ENST00000570156.2	+	85	20845	c.20771G>A	c.(20770-20772)cGc>cAc	p.R6924H	OBSCN_ENST00000422127.1_Missense_Mutation_p.R5967H|OBSCN_ENST00000366707.4_Missense_Mutation_p.R3601H|OBSCN_ENST00000366709.4_Missense_Mutation_p.R3086H|OBSCN_ENST00000284548.11_Missense_Mutation_p.R5967H	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	5967					apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GGGGATGACCGCGCCTTCGAG	0.632													9	9					0	0	1	0	0	A	228529181	G	A	228529181	3	1	138	1	0	0	0	0	1	0	0	0	10860	1087	38	1	18190	1	OBSCN	1	228529181	Missense_Mutation	SNP	G	TCGA-DU-A6S3-01A-12D-A32B-08	42541800	228529181	20721440	4	21998											
DTNB	1838	broad.mit.edu	37	2	25655840	25655840	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A6S3-01A-12D-A32B-08	TCGA-DU-A6S3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f192a681-2d96-4f8c-8fd1-c4889fadf0c5	00b17af9-fd37-4d43-a8ec-1cdd5246ba25	g.chr2:25655840G>A	ENST00000406818.3	-	14	1621	c.1372C>T	c.(1372-1374)Cgc>Tgc	p.R458C	DTNB_ENST00000404103.3_Missense_Mutation_p.R458C|DTNB_ENST00000407661.3_Missense_Mutation_p.R458C|DTNB_ENST00000288642.8_Missense_Mutation_p.R458C|DTNB_ENST00000405222.1_Missense_Mutation_p.R428C|DTNB_ENST00000545439.1_Missense_Mutation_p.R254C|DTNB_ENST00000407186.1_Missense_Mutation_p.R428C|DTNB_ENST00000407038.3_Missense_Mutation_p.R428C|DTNB_ENST00000496972.2_Missense_Mutation_p.R401C	NM_001256303.1|NM_021907.4	NP_001243232.1|NP_068707.1	O60941	DTNB_HUMAN	dystrobrevin, beta	458						cytoplasm	calcium ion binding|zinc ion binding	p.R458C(1)		endometrium(1)|large_intestine(3)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	11	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGTTCCAGGCGGAGACGCTGA	0.597													8	6					0	0	1	0	0	A	25655840	G	A	25655840	3	1	138	1	0	0	0	0	1	0	0	0	4815	1116	39	1	539	1	DTNB	2	25655840	Missense_Mutation	SNP	G	TCGA-DU-A6S3-01A-12D-A32B-08		25655840	217543533	5	21999											
EFEMP1	2202	broad.mit.edu	37	2	56108807	56108807	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A6S3-01A-12D-A32B-08	TCGA-DU-A6S3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f192a681-2d96-4f8c-8fd1-c4889fadf0c5	00b17af9-fd37-4d43-a8ec-1cdd5246ba25	g.chr2:56108807G>A	ENST00000394555.2	-	5	1015	c.580C>T	c.(580-582)Cgg>Tgg	p.R194W	EFEMP1_ENST00000394554.1_Missense_Mutation_p.R194W|EFEMP1_ENST00000424836.2_Missense_Mutation_p.R136W|EFEMP1_ENST00000355426.3_Missense_Mutation_p.R194W	NM_001039348.2|NM_001039349.2	NP_001034437.1|NP_001034438.1	Q12805	FBLN3_HUMAN	EGF containing fibulin-like extracellular matrix protein 1	194	EGF-like 2; calcium-binding (Potential).				negative regulation of chondrocyte differentiation|peptidyl-tyrosine phosphorylation|regulation of transcription, DNA-dependent|visual perception	extracellular space|proteinaceous extracellular matrix	calcium ion binding|epidermal growth factor receptor activity|epidermal growth factor receptor binding|growth factor activity			NS(1)|breast(2)|endometrium(4)|large_intestine(6)|lung(5)|ovary(5)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			AAGGATCCCCGTAAATTGATG	0.512													32	52					0	0	1	0	0	A	56108807	G	A	56108807	3	1	138	1	0	0	0	0	1	0	0	0	4967	1144	40	1	929	1	EFEMP1	2	56108807	Missense_Mutation	SNP	G	TCGA-DU-A6S3-01A-12D-A32B-08	30452967	56108807	187090566	6	22000											
SCN2A	6326	broad.mit.edu	37	2	166165901	166165901	+	Silent	SNP	G	G	A			TCGA-DU-A6S3-01A-12D-A32B-08	TCGA-DU-A6S3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f192a681-2d96-4f8c-8fd1-c4889fadf0c5	00b17af9-fd37-4d43-a8ec-1cdd5246ba25	g.chr2:166165901G>A	ENST00000375437.2	+	6	935	c.645G>A	c.(643-645)gcG>gcA	p.A215A	SCN2A_ENST00000283256.6_Silent_p.A215A|SCN2A_ENST00000357398.3_Intron|SCN2A_ENST00000375427.2_Intron	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	215					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.A215A(2)		NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	ATGTCTCAGCGTTGAGAACAT	0.438													12	34					0	0	1	0	0	A	166165901	G	A	166165901	2	1	138	1	0	0	0	0	0	0	0	1	13970	1132	40	1		1	SCN2A	2	166165901	Silent	SNP	G	TCGA-DU-A6S3-01A-12D-A32B-08	110057094	166165901	77033472	7	22001											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-DU-A6S3-01A-12D-A32B-08	TCGA-DU-A6S3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f192a681-2d96-4f8c-8fd1-c4889fadf0c5	00b17af9-fd37-4d43-a8ec-1cdd5246ba25	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	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								15	30					0	0	1	0	0	T	209113112	C	T	209113112	3	4	138	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-DU-A6S3-01A-12D-A32B-08	42947211	209113112	34086261	8	22002											
SLC6A20	54716	broad.mit.edu	37	3	45804412	45804412	+	Silent	SNP	G	G	A			TCGA-DU-A6S3-01A-12D-A32B-08	TCGA-DU-A6S3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f192a681-2d96-4f8c-8fd1-c4889fadf0c5	00b17af9-fd37-4d43-a8ec-1cdd5246ba25	g.chr3:45804412G>A	ENST00000358525.4	-	9	1571	c.1456C>T	c.(1456-1458)Ctg>Ttg	p.L486L	SLC6A20_ENST00000456124.2_Silent_p.L486L|SLC6A20_ENST00000353278.4_Silent_p.L449L|SLC6A20_ENST00000493980.1_5'UTR	NM_020208.3	NP_064593.1	Q9NP91	S6A20_HUMAN	solute carrier family 6 (proline IMINO transporter), member 20	486					cellular nitrogen compound metabolic process|glycine transport|proline transport	apical plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(1)|large_intestine(6)|ovary(2)|skin(2)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.01)|KIRC - Kidney renal clear cell carcinoma(197;0.0225)|Kidney(197;0.0267)		CACCTCCTCAGCCCGTACACG	0.552													22	81					0	0	1	0	0	A	45804412	G	A	45804412	2	1	138	1	0	0	0	0	0	0	0	1	14739	962	34	2		2	SLC6A20	3	45804412	Silent	SNP	G	TCGA-DU-A6S3-01A-12D-A32B-08		45804412	152218018	9	22003											
LRIG1	26018	broad.mit.edu	37	3	66433766	66433766	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A6S3-01A-12D-A32B-08	TCGA-DU-A6S3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f192a681-2d96-4f8c-8fd1-c4889fadf0c5	00b17af9-fd37-4d43-a8ec-1cdd5246ba25	g.chr3:66433766C>T	ENST00000383703.3	-	16	2665	c.2062G>A	c.(2062-2064)Gcc>Acc	p.A688T	LRIG1_ENST00000273261.3_Missense_Mutation_p.A711T|LRIG1_ENST00000496559.2_5'UTR|SLC25A26_ENST00000536651.1_Intron			Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like domains 1	711	Ig-like C2-type 2.					integral to membrane				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		CATTGGAGGGCCACTGTTTCT	0.597													27	45					0	0	1	0	0	T	66433766	C	T	66433766	3	4	138	1	0	0	0	0	1	0	0	0	8989	739	26	2	1170	2	LRIG1	3	66433766	Missense_Mutation	SNP	C	TCGA-DU-A6S3-01A-12D-A32B-08	20629354	66433766	131588664	10	22004											
VEPH1	79674	broad.mit.edu	37	3	157081226	157081227	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DU-A6S3-01A-12D-A32B-08	TCGA-DU-A6S3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f192a681-2d96-4f8c-8fd1-c4889fadf0c5	00b17af9-fd37-4d43-a8ec-1cdd5246ba25	g.chr3:157081226_157081227insT	ENST00000362010.2	-	9	1968_1969	c.1661_1662insA	c.(1660-1662)aacfs	p.N554fs	VEPH1_ENST00000392832.2_Frame_Shift_Ins_p.N554fs|VEPH1_ENST00000392833.2_Frame_Shift_Ins_p.N554fs|VEPH1_ENST00000543418.1_Frame_Shift_Ins_p.N554fs|RP11-550I24.2_ENST00000487238.1_RNA	NM_001167912.1	NP_001161384.1	Q14D04	MELT_HUMAN	ventricular zone expressed PH domain-containing 1	554						plasma membrane				autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			CTTTGCTGAGGTTTTTTTTTAA	0.396													7	265	---	---	---	---						T	157081227	-	T	157081226	7	5	138	1	0	1	1	0	0	0	0	0	17214	1252	44	0	863	0	VEPH1	3	157081226	Frame_Shift_Ins	INS	-	TCGA-DU-A6S3-01A-12D-A32B-08	90647460	157081226	40941204	11	22005											
PIK3CA	5290	broad.mit.edu	37	3	178928078	178928080	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-DU-A6S3-01A-12D-A32B-08	TCGA-DU-A6S3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f192a681-2d96-4f8c-8fd1-c4889fadf0c5	00b17af9-fd37-4d43-a8ec-1cdd5246ba25	g.chr3:178928078_178928080delAGA	ENST00000263967.3	+	8	1513_1515	c.1356_1358delAGA	c.(1354-1359)ttagaa>tta	p.E453del		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	453	C2 PI3K-type.		E -> Q (in cancer; shows an increase in lipid kinase activity; may disrupt the interaction of the C2 PI3K-type domain with the iSH2 region of the p85 regulatory subunit).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E453K(11)|p.E453Q(5)|p.H450fs*9(1)|p.E453A(1)|p.P449_L455del(1)|p.G451_L456>V(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			CTCATGGATTAGAAGATTTGCTG	0.35		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			43	92	---	---	---	---						-	178928080	AGA	-	178928078	7	5	138	1	0	1	0	1	0	0	0	0	11961	417	15	0	1382	0	PIK3CA	3	178928078	In_Frame_Del	DEL	AGA	TCGA-DU-A6S3-01A-12D-A32B-08	21846852	178928078	19094352	12	22006											
PPEF2	5470	broad.mit.edu	37	4	76809380	76809382	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-DU-A6S3-01A-12D-A32B-08	TCGA-DU-A6S3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f192a681-2d96-4f8c-8fd1-c4889fadf0c5	00b17af9-fd37-4d43-a8ec-1cdd5246ba25	g.chr4:76809380_76809382delCTC	ENST00000286719.7	-	6	873_875	c.517_519delGAG	c.(517-519)gagdel	p.E173del		NM_006239.2	NP_006230.2	O14830	PPE2_HUMAN	protein phosphatase, EF-hand calcium binding domain 2	173	Catalytic.				detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception	cytoplasm|photoreceptor inner segment|photoreceptor outer segment	calcium ion binding|Hsp70 protein binding|Hsp90 protein binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	50			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			ACACTGTGATCTCCTCACTGTAA	0.507													15	108	---	---	---	---						-	76809382	CTC	-	76809380	7	5	138	1	0	1	0	1	0	0	0	0	12353	912	32	0	1790	0	PPEF2	4	76809380	In_Frame_Del	DEL	CTC	TCGA-DU-A6S3-01A-12D-A32B-08		76809380	114344896	13	22007											
MAML3	55534	broad.mit.edu	37	4	140811117	140811117	+	Silent	SNP	C	C	T	rs62344938		TCGA-DU-A6S3-01A-12D-A32B-08	TCGA-DU-A6S3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f192a681-2d96-4f8c-8fd1-c4889fadf0c5	00b17af9-fd37-4d43-a8ec-1cdd5246ba25	g.chr4:140811117C>T	ENST00000509479.2	-	2	2329	c.1473G>A	c.(1471-1473)caG>caA	p.Q491Q	MAML3_ENST00000327122.5_Silent_p.Q335Q|MAML3_ENST00000398940.1_Silent_p.Q30Q	NM_018717.4	NP_061187	Q96JK9	MAML3_HUMAN	mastermind-like 3 (Drosophila)	491	Gln-rich.				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity			breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					gctgctgctgctgctgttgct	0.547													3	30					0	0	1	0	0	T	140811117	C	T	140811117	2	4	138	1	0	0	0	0	0	0	0	1	9257	796	28	2		2	MAML3	4	140811117	Silent	SNP	C	TCGA-DU-A6S3-01A-12D-A32B-08	64001737	140811117	50343159	14	22008											
POU5F2	134187	broad.mit.edu	37	5	93076551	93076551	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-A6S3-01A-12D-A32B-08	TCGA-DU-A6S3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f192a681-2d96-4f8c-8fd1-c4889fadf0c5	00b17af9-fd37-4d43-a8ec-1cdd5246ba25	g.chr5:93076551A>G	ENST00000510627.4	-	1	792	c.719T>C	c.(718-720)aTc>aCc	p.I240T	FAM172A_ENST00000509163.1_Intron|FAM172A_ENST00000505869.1_Intron|POU5F2_ENST00000606183.1_5'UTR|FAM172A_ENST00000395965.3_Intron|FAM172A_ENST00000509739.1_Intron	NM_153216.1	NP_694948.1	Q8N7G0	PO5F2_HUMAN	POU domain class 5, transcription factor 2	240						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity						all_cancers(142;3.87e-05)|all_epithelial(76;4.59e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0415)|all cancers(79;2.03e-19)		AATGTGGCTGATTTGCTGGGG	0.552													10	22					0	0	1	0	0	G	93076551	A	G	93076551	3	3	138	1	0	0	0	0	1	0	0	0	12328	333	12	3	271	3	POU5F2	5	93076551	Missense_Mutation	SNP	A	TCGA-DU-A6S3-01A-12D-A32B-08		93076551	87838709	15	22009											
TRIM27	5987	broad.mit.edu	37	6	28872363	28872363	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-A6S3-01A-12D-A32B-08	TCGA-DU-A6S3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f192a681-2d96-4f8c-8fd1-c4889fadf0c5	00b17af9-fd37-4d43-a8ec-1cdd5246ba25	g.chr6:28872363G>T	ENST00000377199.3	-	8	1382	c.1026C>A	c.(1024-1026)taC>taA	p.Y342*	TRIM27_ENST00000377194.3_Nonsense_Mutation_p.Y342*	NM_006510.4	NP_006501.1	P14373	TRI27_HUMAN	tripartite motif containing 27	342	B30.2/SPRY.				cell proliferation|negative regulation of gene expression, epigenetic|negative regulation of transcription from RNA polymerase II promoter|protein trimerization|spermatogenesis|transcription, DNA-dependent	cytoplasm|integral to plasma membrane|membrane fraction|nuclear membrane|PML body	DNA binding|protein binding|transmembrane receptor protein tyrosine kinase activity|zinc ion binding			endometrium(1)|large_intestine(2)|lung(6)|ovary(1)	10						CCTGTTGGAGGTAACTGTACC	0.552			T	RET	papillary thyroid								15	20					2.23348e-06	2.23348e-06	1	1	0	T	28872363	G	T	28872363	4	4	138	1	0	0	0	0	0	1	0	0	16562	1256	44	5	519	5	TRIM27	6	28872363	Nonsense_Mutation	SNP	G	TCGA-DU-A6S3-01A-12D-A32B-08		28872363	142242704	16	22010											
KIAA1244	57221	broad.mit.edu	37	6	138584709	138584709	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A6S3-01A-12D-A32B-08	TCGA-DU-A6S3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f192a681-2d96-4f8c-8fd1-c4889fadf0c5	00b17af9-fd37-4d43-a8ec-1cdd5246ba25	g.chr6:138584709G>A	ENST00000251691.4	+	12	2255	c.2089G>A	c.(2089-2091)Gac>Aac	p.D697N		NM_020340.4	NP_065073.3	Q5TH69	BIG3_HUMAN	KIAA1244	697	SEC7.				regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		AGAGGAGGTGGACACCGCTCT	0.507													23	26					0	0	1	0	0	A	138584709	G	A	138584709	3	1	138	1	0	0	0	0	1	0	0	0	8259	1174	41	2	2135	2	KIAA1244	6	138584709	Missense_Mutation	SNP	G	TCGA-DU-A6S3-01A-12D-A32B-08	109712346	138584709	32530358	17	22011											
MPDZ	8777	broad.mit.edu	37	9	13216804	13216804	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DU-A6S3-01A-12D-A32B-08	TCGA-DU-A6S3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f192a681-2d96-4f8c-8fd1-c4889fadf0c5	00b17af9-fd37-4d43-a8ec-1cdd5246ba25	g.chr9:13216804delC	ENST00000319217.7	-	10	1506	c.1259delG	c.(1258-1260)ggafs	p.G420fs	MPDZ_ENST00000447879.1_Frame_Shift_Del_p.G420fs|MPDZ_ENST00000536827.1_Frame_Shift_Del_p.G420fs|MPDZ_ENST00000546205.1_Frame_Shift_Del_p.G420fs|MPDZ_ENST00000381022.2_Frame_Shift_Del_p.G420fs|MPDZ_ENST00000541718.1_Frame_Shift_Del_p.G420fs|MPDZ_ENST00000381015.4_Frame_Shift_Del_p.G420fs	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	420	PDZ 3.				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		TTGGATTCTTCCATCATGCTC	0.313													14	23	---	---	---	---						-	13216804	C	-	13216804	7	5	138	1	0	1	0	1	0	0	0	0	9771	855	30	0	5014	0	MPDZ	9	13216804	Frame_Shift_Del	DEL	C	TCGA-DU-A6S3-01A-12D-A32B-08		13216804	127996627	18	22012											
DNAI1	27019	broad.mit.edu	37	9	34514457	34514458	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-DU-A6S3-01A-12D-A32B-08	TCGA-DU-A6S3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f192a681-2d96-4f8c-8fd1-c4889fadf0c5	00b17af9-fd37-4d43-a8ec-1cdd5246ba25	g.chr9:34514457_34514458delTG	ENST00000242317.4	+	17	1806_1807	c.1635_1636delTG	c.(1633-1638)actgtgfs	p.V546fs		NM_001281428.1|NM_012144.2	NP_001268357.1|NP_036276.1	Q9UI46	DNAI1_HUMAN	dynein, axonemal, intermediate chain 1	546					cell projection organization	cilium axoneme|cytoplasm|dynein complex|microtubule	motor activity			autonomic_ganglia(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|prostate(1)|skin(2)|urinary_tract(1)	34	all_epithelial(49;0.244)		LUSC - Lung squamous cell carcinoma(29;0.0107)|STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.0222)		CAGTGGACACTGTGTCCTGGAA	0.559									Kartagener syndrome				43	80	---	---	---	---						-	34514458	TG	-	34514457	7	5	138	1	0	1	0	1	0	0	0	0	4636	1567	55	0	1701	0	DNAI1	9	34514457	Frame_Shift_Del	DEL	TG	TCGA-DU-A6S3-01A-12D-A32B-08	21297653	34514457	106698974	19	22013											
NOTCH1	4851	broad.mit.edu	37	9	139413070	139413072	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-DU-A6S3-01A-12D-A32B-08	TCGA-DU-A6S3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f192a681-2d96-4f8c-8fd1-c4889fadf0c5	00b17af9-fd37-4d43-a8ec-1cdd5246ba25	g.chr9:139413070_139413072delAGA	ENST00000277541.6	-	6	1145_1147	c.1070_1072delTCT	c.(1069-1074)ttctac>tac	p.F357del		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	357	EGF-like 9; calcium-binding (Potential).				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	p.F357delF(4)		breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CACTCGCAGTAGAAGGAGGCCAC	0.655			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			20	15	---	---	---	---						-	139413072	AGA	-	139413070	7	5	138	1	0	1	0	1	0	0	0	0	10594	420	15	0	6711	0	NOTCH1	9	139413070	In_Frame_Del	DEL	AGA	TCGA-DU-A6S3-01A-12D-A32B-08	104898613	139413070	1800361	20	22014											
MAP3K8	1326	broad.mit.edu	37	10	30739244	30739244	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A6S3-01A-12D-A32B-08	TCGA-DU-A6S3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f192a681-2d96-4f8c-8fd1-c4889fadf0c5	00b17af9-fd37-4d43-a8ec-1cdd5246ba25	g.chr10:30739244G>A	ENST00000263056.1	+	5	1258	c.562G>A	c.(562-564)Gag>Aag	p.E188K	MAP3K8_ENST00000542547.1_Missense_Mutation_p.E188K|MAP3K8_ENST00000375321.1_Missense_Mutation_p.E188K	NM_001244134.1|NM_005204.3	NP_001231063.1|NP_005195.2	P41279	M3K8_HUMAN	mitogen-activated protein kinase kinase kinase 8	188	Protein kinase.				cell cycle|T cell costimulation	cytosol	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		Prostate(175;0.151)				CTTCCGGCACGAGAACATCGC	0.483													28	81					0	0	1	0	0	A	30739244	G	A	30739244	3	1	138	1	0	0	0	0	1	0	0	0	9306	1059	37	1	572	1	MAP3K8	10	30739244	Missense_Mutation	SNP	G	TCGA-DU-A6S3-01A-12D-A32B-08		30739244	104795503	21	22015											
OR4D9	390199	broad.mit.edu	37	11	59282749	59282749	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A6S3-01A-12D-A32B-08	TCGA-DU-A6S3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f192a681-2d96-4f8c-8fd1-c4889fadf0c5	00b17af9-fd37-4d43-a8ec-1cdd5246ba25	g.chr11:59282749C>T	ENST00000329328.3	+	1	364	c.364C>T	c.(364-366)Cgc>Tgc	p.R122C		NM_001004711.1	NP_001004711.1	Q8NGE8	OR4D9_HUMAN	olfactory receptor, family 4, subfamily D, member 9	122					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R122C(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|prostate(5)|upper_aerodigestive_tract(1)	26						GGCGTTTGACCGCTATATAGC	0.527													4	75					0	0	1	0	0	T	59282749	C	T	59282749	3	4	138	1	0	0	0	0	1	0	0	0	11107	652	23	1	366	1	OR4D9	11	59282749	Missense_Mutation	SNP	C	TCGA-DU-A6S3-01A-12D-A32B-08		59282749	75723767	22	22016											
CABP2	51475	broad.mit.edu	37	11	67287397	67287397	+	Silent	SNP	C	C	T			TCGA-DU-A6S3-01A-12D-A32B-08	TCGA-DU-A6S3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f192a681-2d96-4f8c-8fd1-c4889fadf0c5	00b17af9-fd37-4d43-a8ec-1cdd5246ba25	g.chr11:67287397C>T	ENST00000294288.4	-	6	573	c.504G>A	c.(502-504)ggG>ggA	p.G168G	CABP2_ENST00000353903.5_Silent_p.G111G	NM_016366.2	NP_057450.2	Q9NPB3	CABP2_HUMAN	calcium binding protein 2	168	EF-hand 3.				signal transduction	Golgi apparatus|perinuclear region of cytoplasm|plasma membrane	calcium ion binding			endometrium(2)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	9						TGCGGCCGTCCCCATTGGTGT	0.687													6	9					0	0	1	0	0	T	67287397	C	T	67287397	2	4	138	1	0	0	0	0	0	0	0	1	2550	610	22	2		2	CABP2	11	67287397	Silent	SNP	C	TCGA-DU-A6S3-01A-12D-A32B-08	8004648	67287397	67719119	23	22017											
CREBZF	58487	broad.mit.edu	37	11	85375242	85375244	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-DU-A6S3-01A-12D-A32B-08	TCGA-DU-A6S3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f192a681-2d96-4f8c-8fd1-c4889fadf0c5	00b17af9-fd37-4d43-a8ec-1cdd5246ba25	g.chr11:85375242_85375244delCTT	ENST00000527447.1	-	1	902_904	c.676_678delAAG	c.(676-678)aagdel	p.K226del	CREBZF_ENST00000398294.2_In_Frame_Del_p.K144del|CREBZF_ENST00000534224.1_Intron|CREBZF_ENST00000531515.1_Intron	NM_001039618.2	NP_001034707.1	Q9NS37	ZHANG_HUMAN	CREB/ATF bZIP transcription factor	226					negative regulation of gene expression, epigenetic|negative regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|response to virus	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.K226delK(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	9		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)				TCACGTACTCCTTCTTCTTCAGT	0.665											OREG0021274	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	45	136	---	---	---	---						-	85375244	CTT	-	85375242	7	5	138	1	0	1	0	1	0	0	0	0	3886	680	24	0	390	0	CREBZF	11	85375242	In_Frame_Del	DEL	CTT	TCGA-DU-A6S3-01A-12D-A32B-08	18087845	85375242	49631274	24	22018											
USP5	8078	broad.mit.edu	37	12	6970648	6970650	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-DU-A6S3-01A-12D-A32B-08	TCGA-DU-A6S3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f192a681-2d96-4f8c-8fd1-c4889fadf0c5	00b17af9-fd37-4d43-a8ec-1cdd5246ba25	g.chr12:6970648_6970650delGAG	ENST00000229268.8	+	13	1592_1594	c.1540_1542delGAG	c.(1540-1542)gagdel	p.E515del	USP5_ENST00000541969.1_3'UTR|USP5_ENST00000389231.5_In_Frame_Del_p.E515del	NM_001098536.1	NP_001092006.1	P45974	UBP5_HUMAN	ubiquitin specific peptidase 5 (isopeptidase T)	515					positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process	lysosome	cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|zinc ion binding			breast(6)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|skin(2)|urinary_tract(2)	36						GCAAGCCGAAGAGGAGAAGATGG	0.596													23	62	---	---	---	---						-	6970650	GAG	-	6970648	7	5	138	1	0	1	0	1	0	0	0	0	17141	943	33	0	1590	0	USP5	12	6970648	In_Frame_Del	DEL	GAG	TCGA-DU-A6S3-01A-12D-A32B-08		6970648	126881247	25	22019											
PHC1	1911	broad.mit.edu	37	12	9083061	9083061	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A6S3-01A-12D-A32B-08	TCGA-DU-A6S3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f192a681-2d96-4f8c-8fd1-c4889fadf0c5	00b17af9-fd37-4d43-a8ec-1cdd5246ba25	g.chr12:9083061G>A	ENST00000433083.2	+	6	653	c.508G>A	c.(508-510)Gcc>Acc	p.A170T	PHC1_ENST00000544916.1_Missense_Mutation_p.A215T|PHC1_ENST00000543824.1_Missense_Mutation_p.A215T|PHC1_ENST00000433847.2_3'UTR|PHC1_ENST00000536844.1_5'UTR			P78364	PHC1_HUMAN	polyhomeotic homolog 1 (Drosophila)	215					multicellular organismal development	PcG protein complex	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(5)|large_intestine(8)|liver(2)|lung(3)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	27						GAATCAACAGGCCTCAGCTCA	0.507													4	11					0	0	1	0	0	A	9083061	G	A	9083061	3	1	138	1	0	0	0	0	1	0	0	0	11864	1203	42	2	665	2	PHC1	12	9083061	Missense_Mutation	SNP	G	TCGA-DU-A6S3-01A-12D-A32B-08	2112413	9083061	124768834	26	22020											
DERA	51071	broad.mit.edu	37	12	16185574	16185574	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DU-A6S3-01A-12D-A32B-08	TCGA-DU-A6S3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f192a681-2d96-4f8c-8fd1-c4889fadf0c5	00b17af9-fd37-4d43-a8ec-1cdd5246ba25	g.chr12:16185574delA	ENST00000428559.2	+	7	948	c.736delA	c.(736-738)aaafs	p.K246fs	DERA_ENST00000526530.1_Frame_Shift_Del_p.K158fs|DERA_ENST00000532573.1_3'UTR|DERA_ENST00000532964.1_Frame_Shift_Del_p.K203fs	NM_015954.2	NP_057038.2	Q9Y315	DEOC_HUMAN	deoxyribose-phosphate aldolase (putative)	246					deoxyribonucleoside catabolic process|deoxyribonucleotide catabolic process	cytoplasm	deoxyribose-phosphate aldolase activity|protein binding			endometrium(1)|large_intestine(2)|lung(3)|skin(1)	7		Hepatocellular(102;0.121)				TTTCTTCTGGAAAACTGGAAA	0.348													2	4	---	---	---	---						-	16185574	A	-	16185574	7	5	138	1	0	1	0	1	0	0	0	0	4473	247	9	0	762	0	DERA	12	16185574	Frame_Shift_Del	DEL	A	TCGA-DU-A6S3-01A-12D-A32B-08	7102513	16185574	117666321	27	22021											
KCNH3	23416	broad.mit.edu	37	12	49935464	49935464	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A6S3-01A-12D-A32B-08	TCGA-DU-A6S3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f192a681-2d96-4f8c-8fd1-c4889fadf0c5	00b17af9-fd37-4d43-a8ec-1cdd5246ba25	g.chr12:49935464G>A	ENST00000257981.6	+	3	622	c.362G>A	c.(361-363)gGg>gAg	p.G121E	KCNH3_ENST00000550434.1_3'UTR	NM_012284.1	NP_036416.1	Q9ULD8	KCNH3_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 3	121	PAC.				regulation of transcription, DNA-dependent	integral to membrane	two-component sensor activity|voltage-gated potassium channel activity			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36						AATGAGAAAGGGGAGGTGGCT	0.542													61	129					0	0	1	0	0	A	49935464	G	A	49935464	3	1	138	1	0	0	0	0	1	0	0	0	8077	1232	43	2	372	2	KCNH3	12	49935464	Missense_Mutation	SNP	G	TCGA-DU-A6S3-01A-12D-A32B-08	33749890	49935464	83916431	28	22022											
NACA	4666	broad.mit.edu	37	12	57110851	57110853	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-DU-A6S3-01A-12D-A32B-08	TCGA-DU-A6S3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f192a681-2d96-4f8c-8fd1-c4889fadf0c5	00b17af9-fd37-4d43-a8ec-1cdd5246ba25	g.chr12:57110851_57110853delGAA	ENST00000454682.1	-	3	4742_4744	c.4461_4463delTTC	c.(4459-4464)tcttcc>tcc	p.1487_1488SS>S	NACA_ENST00000550952.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000546392.1_Intron	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN	nascent polypeptide-associated complex alpha subunit	0					interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						TTTGGGAGAGGAAGAAGTGGCAA	0.631			T	BCL6	NHL								13	35	---	---	---	---						-	57110853	GAA	-	57110851	7	5	138	1	0	1	0	1	0	0	0	0	10181	1174	41	0	1801	0	NACA	12	57110851	In_Frame_Del	DEL	GAA	TCGA-DU-A6S3-01A-12D-A32B-08	7175387	57110851	76741044	29	22023											
LCP1	3936	broad.mit.edu	37	13	46721233	46721235	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-DU-A6S3-01A-12D-A32B-08	TCGA-DU-A6S3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f192a681-2d96-4f8c-8fd1-c4889fadf0c5	00b17af9-fd37-4d43-a8ec-1cdd5246ba25	g.chr13:46721233_46721235delCTT	ENST00000398576.2	-	13	1370_1372	c.982_984delAAG	c.(982-984)aagdel	p.K328del	LCP1_ENST00000323076.2_In_Frame_Del_p.K328del			P13796	PLSL_HUMAN	lymphocyte cytosolic protein 1 (L-plastin)	328	Actin-binding 1.|CH 2.				regulation of intracellular protein transport|T cell activation involved in immune response	cell junction|cytosol|ruffle membrane	calcium ion binding			breast(2)|kidney(1)|large_intestine(6)|lung(18)|ovary(4)|prostate(2)|skin(1)	34		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.39e-05)		GGATGTCATCCTTCTCCTGCAAT	0.522			T	BCL6	NHL								12	19	---	---	---	---						-	46721235	CTT	-	46721233	7	5	138	1	0	1	0	1	0	0	0	0	8730	680	24	0	927	0	LCP1	13	46721233	In_Frame_Del	DEL	CTT	TCGA-DU-A6S3-01A-12D-A32B-08		46721233	68448645	30	22024											
BDKRB2	624	broad.mit.edu	37	14	96707058	96707058	+	Silent	SNP	C	C	T			TCGA-DU-A6S3-01A-12D-A32B-08	TCGA-DU-A6S3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f192a681-2d96-4f8c-8fd1-c4889fadf0c5	00b17af9-fd37-4d43-a8ec-1cdd5246ba25	g.chr14:96707058C>T	ENST00000542454.2	+	3	3400	c.312C>T	c.(310-312)cgC>cgT	p.R104R	RP11-404P21.8_ENST00000553811.1_Intron|BDKRB2_ENST00000539359.1_Silent_p.R104R|BDKRB2_ENST00000554311.1_Silent_p.R131R|BDKRB2_ENST00000306005.3_Silent_p.R131R			P30411	BKRB2_HUMAN	bradykinin receptor B2	131					arachidonic acid secretion|elevation of cytosolic calcium ion concentration|transmembrane receptor protein tyrosine kinase signaling pathway	endosome|integral to plasma membrane	bradykinin receptor activity|phosphatidylinositol phospholipase C activity|protease binding|protein heterodimerization activity|type 1 angiotensin receptor binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|lung(7)|ovary(3)|skin(1)	24		all_cancers(154;0.0678)|Melanoma(154;0.155)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.226)		CGCTCTGCCGCGTGGTGAATG	0.582													72	121					0	0	1	0	0	T	96707058	C	T	96707058	2	4	138	1	0	0	0	0	0	0	0	1	1391	755	27	1		1	BDKRB2	14	96707058	Silent	SNP	C	TCGA-DU-A6S3-01A-12D-A32B-08		96707058	10642482	31	22025											
WDR76	79968	broad.mit.edu	37	15	44150878	44150878	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-A6S3-01A-12D-A32B-08	TCGA-DU-A6S3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f192a681-2d96-4f8c-8fd1-c4889fadf0c5	00b17af9-fd37-4d43-a8ec-1cdd5246ba25	g.chr15:44150878T>G	ENST00000263795.6	+	11	1489	c.1419T>G	c.(1417-1419)caT>caG	p.H473Q	WDR76_ENST00000478130.1_3'UTR|WDR76_ENST00000381246.2_Missense_Mutation_p.H409Q	NM_001167941.1|NM_024908.3	NP_001161413.1|NP_079184.2	Q9H967	WDR76_HUMAN	WD repeat domain 76	473										breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)	20		all_cancers(109;3.26e-11)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.61e-06)|all_lung(180;1.5e-05)|Melanoma(134;0.0417)		all cancers(107;3.78e-21)|GBM - Glioblastoma multiforme(94;5.04e-07)		GGGATACTCATATTTATGATG	0.383													11	73					0	0	1	0	0	G	44150878	T	G	44150878	3	3	138	1	0	0	0	0	1	0	0	0	17386	1403	49	4	1461	4	WDR76	15	44150878	Missense_Mutation	SNP	T	TCGA-DU-A6S3-01A-12D-A32B-08		44150878	58380514	32	22026											
SEMA6D	80031	broad.mit.edu	37	15	48063212	48063212	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A6S3-01A-12D-A32B-08	TCGA-DU-A6S3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f192a681-2d96-4f8c-8fd1-c4889fadf0c5	00b17af9-fd37-4d43-a8ec-1cdd5246ba25	g.chr15:48063212C>T	ENST00000316364.5	+	19	2891	c.2452C>T	c.(2452-2454)Cca>Tca	p.P818S	SEMA6D_ENST00000536845.2_Missense_Mutation_p.P818S|SEMA6D_ENST00000389432.2_Missense_Mutation_p.P775S|SEMA6D_ENST00000358066.4_Missense_Mutation_p.P756S|SEMA6D_ENST00000558816.1_3'UTR|SEMA6D_ENST00000354744.4_Missense_Mutation_p.P762S|SEMA6D_ENST00000537942.1_Missense_Mutation_p.P756S|SEMA6D_ENST00000558014.1_Missense_Mutation_p.P756S|SEMA6D_ENST00000355997.3_3'UTR|SEMA6D_ENST00000389428.3_Missense_Mutation_p.P743S|SEMA6D_ENST00000389433.2_Missense_Mutation_p.P799S	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	818					axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity	p.P756S(1)|p.P818S(1)		biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		ACCTCATTCCCCATTAAGTCA	0.488													22	68					0	0	1	0	0	T	48063212	C	T	48063212	3	4	138	1	0	0	0	0	1	0	0	0	14096	623	22	2	2565	2	SEMA6D	15	48063212	Missense_Mutation	SNP	C	TCGA-DU-A6S3-01A-12D-A32B-08	3912334	48063212	54468180	33	22027											
MYH11	4629	broad.mit.edu	37	16	15839063	15839063	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A6S3-01A-12D-A32B-08	TCGA-DU-A6S3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f192a681-2d96-4f8c-8fd1-c4889fadf0c5	00b17af9-fd37-4d43-a8ec-1cdd5246ba25	g.chr16:15839063C>T	ENST00000452625.2	-	21	2551	c.2464G>A	c.(2464-2466)Gcc>Acc	p.A822T	MYH11_ENST00000576790.2_Missense_Mutation_p.A815T|MYH11_ENST00000396324.3_Missense_Mutation_p.A822T|MYH11_ENST00000300036.5_Missense_Mutation_p.A815T	NM_001040113.1	NP_001035202.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	815					axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						ACCTTCATGGCGGTCAGCTGC	0.617			T	CBFB	AML								4	51					0	0	1	0	0	T	15839063	C	T	15839063	3	4	138	1	0	0	0	0	1	0	0	0	10079	768	27	1	3598	1	MYH11	16	15839063	Missense_Mutation	SNP	C	TCGA-DU-A6S3-01A-12D-A32B-08		15839063	74515690	34	22028											
CDH8	1006	broad.mit.edu	37	16	61851533	61851533	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A6S3-01A-12D-A32B-08	TCGA-DU-A6S3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f192a681-2d96-4f8c-8fd1-c4889fadf0c5	00b17af9-fd37-4d43-a8ec-1cdd5246ba25	g.chr16:61851533G>A	ENST00000577390.1	-	7	2081	c.1127C>T	c.(1126-1128)gCg>gTg	p.A376V	CDH8_ENST00000577730.1_Missense_Mutation_p.A376V|CDH8_ENST00000584337.1_Missense_Mutation_p.A376V|CDH8_ENST00000299345.6_Missense_Mutation_p.A376V	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	376	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		TTTGACTGTCGCCGTGTCTTT	0.483													12	29					0	0	1	0	0	A	61851533	G	A	61851533	3	1	138	1	0	0	0	0	1	0	0	0	3138	1087	38	1	1296	1	CDH8	16	61851533	Missense_Mutation	SNP	G	TCGA-DU-A6S3-01A-12D-A32B-08	46012470	61851533	28503220	35	22029											
FHOD1	29109	broad.mit.edu	37	16	67265220	67265222	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-DU-A6S3-01A-12D-A32B-08	TCGA-DU-A6S3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f192a681-2d96-4f8c-8fd1-c4889fadf0c5	00b17af9-fd37-4d43-a8ec-1cdd5246ba25	g.chr16:67265220_67265222delCTT	ENST00000258201.4	-	17	2783_2785	c.2536_2538delAAG	c.(2536-2538)aagdel	p.K846del		NM_013241.2	NP_037373.2	Q9Y613	FHOD1_HUMAN	formin homology 2 domain containing 1	846	FH2.				actin cytoskeleton organization	cytoplasm|cytoskeleton|nucleus	actin binding			breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	34		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)		CCTCTGACACCTTCTCCAGGTAG	0.586													19	28	---	---	---	---						-	67265222	CTT	-	67265220	7	5	138	1	0	1	0	1	0	0	0	0	5915	680	24	0	980	0	FHOD1	16	67265220	In_Frame_Del	DEL	CTT	TCGA-DU-A6S3-01A-12D-A32B-08	5413687	67265220	23089533	36	22030											
CIC	23152	broad.mit.edu	37	19	42791757	42791757	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A6S3-01A-12D-A32B-08	TCGA-DU-A6S3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f192a681-2d96-4f8c-8fd1-c4889fadf0c5	00b17af9-fd37-4d43-a8ec-1cdd5246ba25	g.chr19:42791757C>T	ENST00000572681.2	+	6	3438	c.3370C>T	c.(3370-3372)Cgg>Tgg	p.R1124W	CIC_ENST00000160740.3_Missense_Mutation_p.R215W|CIC_ENST00000575354.2_Missense_Mutation_p.R215W			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	215	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	p.R215W(4)		autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CAAGCGGCACCGGGCCCTGGT	0.612			"Mis, F, S"		oligodendroglioma								23	11					0	0	1	0	0	T	42791757	C	T	42791757	3	4	138	1	0	0	0	0	1	0	0	0	3446	643	23	1	661	1	CIC	19	42791757	Missense_Mutation	SNP	C	TCGA-DU-A6S3-01A-12D-A32B-08		42791757	16337226	37	22031											
TPRX1	284355	broad.mit.edu	37	19	48305251	48305251	+	Silent	SNP	A	A	G			TCGA-DU-A6S3-01A-12D-A32B-08	TCGA-DU-A6S3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f192a681-2d96-4f8c-8fd1-c4889fadf0c5	00b17af9-fd37-4d43-a8ec-1cdd5246ba25	g.chr19:48305251A>G	ENST00000535759.1	-	4	1307	c.1308T>C	c.(1306-1308)gaT>gaC	p.D436D	TPRX1_ENST00000543508.1_Silent_p.D329D|TPRX1_ENST00000322175.3_Silent_p.D339D			Q8N7U7	TPRX1_HUMAN	tetra-peptide repeat homeobox 1	339						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(5)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|skin(1)	18		all_cancers(25;3.02e-09)|all_epithelial(76;7e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)		OV - Ovarian serous cystadenocarcinoma(262;0.000241)|all cancers(93;0.00036)|Epithelial(262;0.0127)|GBM - Glioblastoma multiforme(486;0.048)		AGTCGGAGGCATCGGGGCTCT	0.622													25	11					0	0	1	0	0	G	48305251	A	G	48305251	2	3	138	1	0	0	0	0	0	0	0	1	16483	214	8	3		3	TPRX1	19	48305251	Silent	SNP	A	TCGA-DU-A6S3-01A-12D-A32B-08	5513494	48305251	10823732	38	22032											
BAGE2	85319	broad.mit.edu	37	21	11049595	11049595	+	RNA	SNP	A	A	G			TCGA-DU-A6S3-01A-12D-A32B-08	TCGA-DU-A6S3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f192a681-2d96-4f8c-8fd1-c4889fadf0c5	00b17af9-fd37-4d43-a8ec-1cdd5246ba25	g.chr21:11049595A>G	ENST00000470054.1	-	0	513									B melanoma antigen family, member 2															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)		GGGCTGTCGCACACTGCACAG	0.378													15	205					0	0	1	0	0	G	11049595	A	G	11049595	1	3	138	0	1	0	0	0	0	0	0	0	1290	157	6	3		3	BAGE2	21	11049595	RNA	SNP	A	TCGA-DU-A6S3-01A-12D-A32B-08		11049595	37080300	39	22033											
TOP3B	8940	broad.mit.edu	37	22	22324757	22324757	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A6S3-01A-12D-A32B-08	TCGA-DU-A6S3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f192a681-2d96-4f8c-8fd1-c4889fadf0c5	00b17af9-fd37-4d43-a8ec-1cdd5246ba25	g.chr22:22324757C>T	ENST00000398793.2	-	6	840	c.406G>A	c.(406-408)Gtc>Atc	p.V136I	TOP3B_ENST00000357179.5_Missense_Mutation_p.V136I|TOP3B_ENST00000413067.2_Intron	NM_003935.3	NP_003926.1	O95985	TOP3B_HUMAN	topoisomerase (DNA) III beta	136	Toprim.				DNA topological change	nucleus	ATP binding|DNA topoisomerase type I activity|protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(4)|lung(9)|ovary(1)	26	Colorectal(54;0.105)			READ - Rectum adenocarcinoma(21;0.145)		TTGTTCATGACGGGCAGAACA	0.607													8	10					0	0	1	0	0	T	22324757	C	T	22324757	3	4	138	1	0	0	0	0	1	0	0	0	16429	536	19	1	2234	1	TOP3B	22	22324757	Missense_Mutation	SNP	C	TCGA-DU-A6S3-01A-12D-A32B-08		22324757	28979809	40	22034											
VANGL2	57216	broad.mit.edu	37	1	160385688	160385688	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A6S6-01A-21D-A32B-08	TCGA-DU-A6S6-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77449994-108b-4776-9b9f-9cbf53a23159	b7018a1e-4b23-405e-8e01-6b3856d018ff	g.chr1:160385688C>T	ENST00000368061.2	+	2	535	c.61C>T	c.(61-63)Cgc>Tgc	p.R21C		NM_020335.2	NP_065068.1	Q9ULK5	VANG2_HUMAN	VANGL planar cell polarity protein 2	21					apical protein localization|heart looping|nonmotile primary cilium assembly	apical plasma membrane|integral to membrane				biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	37	all_cancers(52;1.08e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CCGCAGCTCCCGCAAGCACAG	0.657													4	25					0	0	1	0	0	T	160385688	C	T	160385688	3	4	139	1	0	0	0	0	1	0	0	0	17180	652	23	1	63	1	VANGL2	1	160385688	Missense_Mutation	SNP	C	TCGA-DU-A6S6-01A-21D-A32B-08		160385688	88864933	1	22035											
PTCD3	55037	broad.mit.edu	37	2	86348616	86348616	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-A6S6-01A-21D-A32B-08	TCGA-DU-A6S6-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77449994-108b-4776-9b9f-9cbf53a23159	b7018a1e-4b23-405e-8e01-6b3856d018ff	g.chr2:86348616C>G	ENST00000254630.7	+	8	619	c.553C>G	c.(553-555)Ctt>Gtt	p.L185V	PTCD3_ENST00000409277.3_Silent_p.L143L|PTCD3_ENST00000465560.1_3'UTR	NM_017952.5	NP_060422.4	Q96EY7	PTCD3_HUMAN	pentatricopeptide repeat domain 3	185						mitochondrion	protein binding			NS(1)|breast(2)|endometrium(3)|kidney(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)	22						CACTGTGTCTCTTGAAACAAC	0.363													29	44					0	0	1	0	0	G	86348616	C	G	86348616	3	3	139	1	0	0	0	0	1	0	0	0	12778	913	32	4	583	4	PTCD3	2	86348616	Missense_Mutation	SNP	C	TCGA-DU-A6S6-01A-21D-A32B-08		86348616	156850757	2	22036											
ADAM23	8745	broad.mit.edu	37	2	207422173	207422173	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-A6S6-01A-21D-A32B-08	TCGA-DU-A6S6-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77449994-108b-4776-9b9f-9cbf53a23159	b7018a1e-4b23-405e-8e01-6b3856d018ff	g.chr2:207422173A>T	ENST00000264377.3	+	10	1284	c.956A>T	c.(955-957)cAt>cTt	p.H319L	ADAM23_ENST00000374416.1_Missense_Mutation_p.H319L|ADAM23_ENST00000374415.3_Missense_Mutation_p.H319L	NM_003812.2	NP_003803.1	O75077	ADA23_HUMAN	ADAM metallopeptidase domain 23	319	Peptidase M12B.				cell adhesion|central nervous system development|proteolysis	extracellular region|integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	51				LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)		CGCTCTTCTCATGCACATACC	0.378													75	85					0	0	1	0	0	T	207422173	A	T	207422173	3	4	139	1	0	0	0	0	1	0	0	0	244	217	8	4	994	4	ADAM23	2	207422173	Missense_Mutation	SNP	A	TCGA-DU-A6S6-01A-21D-A32B-08	121073557	207422173	35777200	3	22037											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-DU-A6S6-01A-21D-A32B-08	TCGA-DU-A6S6-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77449994-108b-4776-9b9f-9cbf53a23159	b7018a1e-4b23-405e-8e01-6b3856d018ff	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	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								16	37					0	0	1	0	0	T	209113112	C	T	209113112	3	4	139	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-DU-A6S6-01A-21D-A32B-08	1690939	209113112	34086261	4	22038											
TRIM71	131405	broad.mit.edu	37	3	32932914	32932914	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A6S6-01A-21D-A32B-08	TCGA-DU-A6S6-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77449994-108b-4776-9b9f-9cbf53a23159	b7018a1e-4b23-405e-8e01-6b3856d018ff	g.chr3:32932914G>A	ENST00000383763.5	+	4	2281	c.2218G>A	c.(2218-2220)Gag>Aag	p.E740K		NM_001039111.1	NP_001034200.1	Q2Q1W2	LIN41_HUMAN	tripartite motif containing 71, E3 ubiquitin protein ligase						multicellular organismal development	cytoplasm	zinc ion binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GTATGGCTTCGAGGGGGCTCT	0.572													8	15					0	0	1	0	0	A	32932914	G	A	32932914	3	1	139	1	0	0	0	0	1	0	0	0	16605	1059	37	1	2232	1	TRIM71	3	32932914	Missense_Mutation	SNP	G	TCGA-DU-A6S6-01A-21D-A32B-08		32932914	165089516	5	22039											
SLC26A6	65010	broad.mit.edu	37	3	48668050	48668050	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DU-A6S6-01A-21D-A32B-08	TCGA-DU-A6S6-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77449994-108b-4776-9b9f-9cbf53a23159	b7018a1e-4b23-405e-8e01-6b3856d018ff	g.chr3:48668050delC	ENST00000358747.6	-	9	1425	c.1175delG	c.(1174-1176)ggcfs	p.G392fs	SLC26A6_ENST00000337000.8_Frame_Shift_Del_p.G306fs|SLC26A6_ENST00000395550.2_Frame_Shift_Del_p.G413fs|SLC26A6_ENST00000420764.2_Frame_Shift_Del_p.G413fs|SLC26A6_ENST00000383733.3_Frame_Shift_Del_p.G413fs|SLC26A6_ENST00000455886.2_Frame_Shift_Del_p.G377fs	NM_001040454.1	NP_001035544.1			solute carrier family 26 (anion exchanger), member 6										SLC26A6/PRKAR2A(2)	NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00609)		CTGCGAGTTGCCCCCGGTGCT	0.617													2	4	---	---	---	---						-	48668050	C	-	48668050	7	5	139	1	0	1	0	1	0	0	0	0	14576	739	26	0	1125	0	SLC26A6	3	48668050	Frame_Shift_Del	DEL	C	TCGA-DU-A6S6-01A-21D-A32B-08	15735136	48668050	149354380	6	22040											
SLC17A4	10050	broad.mit.edu	37	6	25771175	25771175	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-A6S6-01A-21D-A32B-08	TCGA-DU-A6S6-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77449994-108b-4776-9b9f-9cbf53a23159	b7018a1e-4b23-405e-8e01-6b3856d018ff	g.chr6:25771175T>A	ENST00000377905.4	+	6	760	c.641T>A	c.(640-642)aTt>aAt	p.I214N	SLC17A4_ENST00000439485.2_Intron|SLC17A4_ENST00000397076.2_Intron	NM_005495.2	NP_005486.1	Q9Y2C5	S17A4_HUMAN	solute carrier family 17, member 4	214					phosphate metabolic process	integral to plasma membrane|membrane fraction	sodium:phosphate symporter activity			breast(4)|endometrium(1)|kidney(4)|large_intestine(3)|lung(21)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						GGGTCCTTCATTGTTCTACTT	0.478													100	102					0	0	1	0	0	A	25771175	T	A	25771175	3	1	139	1	0	0	0	0	1	0	0	0	14474	1493	52	4	659	4	SLC17A4	6	25771175	Missense_Mutation	SNP	T	TCGA-DU-A6S6-01A-21D-A32B-08		25771175	145343892	7	22041											
MDGA1	266727	broad.mit.edu	37	6	37616799	37616800	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-DU-A6S6-01A-21D-A32B-08	TCGA-DU-A6S6-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77449994-108b-4776-9b9f-9cbf53a23159	b7018a1e-4b23-405e-8e01-6b3856d018ff	g.chr6:37616799_37616800delGA	ENST00000297153.7	-	10	3039_3040	c.1861_1862delTC	c.(1861-1863)tccfs	p.S621fs	MDGA1_ENST00000505425.1_Frame_Shift_Del_p.S618fs|MDGA1_ENST00000434837.3_Frame_Shift_Del_p.S618fs			Q8NFP4	MDGA1_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 1	618	Ig-like 6.				brain development|neuron migration|spinal cord association neuron differentiation	anchored to plasma membrane				central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	38						CACATCGTTGGAGACGCTGCAC	0.718													2	4	---	---	---	---						-	37616800	GA	-	37616799	7	5	139	1	0	1	0	1	0	0	0	0	9456	1174	41	0	1050	0	MDGA1	6	37616799	Frame_Shift_Del	DEL	GA	TCGA-DU-A6S6-01A-21D-A32B-08	11845624	37616799	133498268	8	22042											
ARID1B	57492	broad.mit.edu	37	6	157525120	157525120	+	Missense_Mutation	SNP	A	A	G	rs140177120	byFrequency	TCGA-DU-A6S6-01A-21D-A32B-08	TCGA-DU-A6S6-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77449994-108b-4776-9b9f-9cbf53a23159	b7018a1e-4b23-405e-8e01-6b3856d018ff	g.chr6:157525120A>G	ENST00000346085.5	+	19	5016	c.5015A>G	c.(5014-5016)aAt>aGt	p.N1672S	ARID1B_ENST00000367148.1_Missense_Mutation_p.N1712S|ARID1B_ENST00000275248.4_Missense_Mutation_p.N1654S|ARID1B_ENST00000350026.5_Missense_Mutation_p.N1659S	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1659					chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		GCTACTTTCAATCTCTCCCAG	0.428													94	124					0	0	1	0	0	G	157525120	A	G	157525120	3	3	139	1	0	0	0	0	1	0	0	0	911	101	4	3	5089	3	ARID1B	6	157525120	Missense_Mutation	SNP	A	TCGA-DU-A6S6-01A-21D-A32B-08	119908321	157525120	13589947	9	22043											
EPHA1	2041	broad.mit.edu	37	7	143096028	143096028	+	Silent	SNP	C	C	T			TCGA-DU-A6S6-01A-21D-A32B-08	TCGA-DU-A6S6-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77449994-108b-4776-9b9f-9cbf53a23159	b7018a1e-4b23-405e-8e01-6b3856d018ff	g.chr7:143096028C>T	ENST00000275815.3	-	6	1088	c.1002G>A	c.(1000-1002)tcG>tcA	p.S334S		NM_005232.4	NP_005223.4	P21709	EPHA1_HUMAN	EPH receptor A1	334	Fibronectin type-III 1.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				TTCGGGGGGCCGAGGGGGGAC	0.632													6	18					0	0	1	0	0	T	143096028	C	T	143096028	2	4	139	1	0	0	0	0	0	0	0	1	5193	639	23	1		1	EPHA1	7	143096028	Silent	SNP	C	TCGA-DU-A6S6-01A-21D-A32B-08		143096028	16042635	10	22044											
PC	5091	broad.mit.edu	37	11	66619307	66619307	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DU-A6S6-01A-21D-A32B-08	TCGA-DU-A6S6-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77449994-108b-4776-9b9f-9cbf53a23159	b7018a1e-4b23-405e-8e01-6b3856d018ff	g.chr11:66619307delC	ENST00000393960.1	-	16	2217	c.1936delG	c.(1936-1938)gccfs	p.A646fs	PC_ENST00000393958.2_Frame_Shift_Del_p.A646fs|PC_ENST00000393955.2_Frame_Shift_Del_p.A646fs	NM_001040716.1	NP_001035806.1	P11498	PYC_HUMAN	pyruvate carboxylase	646	Carboxyltransferase.				gluconeogenesis|lipid biosynthetic process	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity			cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)	ACAGCATTGGCCCCCCGCAGC	0.642													17	37	---	---	---	---						-	66619307	C	-	66619307	7	5	139	1	0	1	0	1	0	0	0	0	11544	739	26	0	1632	0	PC	11	66619307	Frame_Shift_Del	DEL	C	TCGA-DU-A6S6-01A-21D-A32B-08		66619307	68387209	11	22045											
INPPL1	3636	broad.mit.edu	37	11	71949150	71949150	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A6S6-01A-21D-A32B-08	TCGA-DU-A6S6-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77449994-108b-4776-9b9f-9cbf53a23159	b7018a1e-4b23-405e-8e01-6b3856d018ff	g.chr11:71949150G>A	ENST00000541756.1	+	27	3821	c.2891G>A	c.(2890-2892)cGg>cAg	p.R964Q	INPPL1_ENST00000538751.1_Missense_Mutation_p.R964Q|INPPL1_ENST00000298229.2_Missense_Mutation_p.R1206Q			O15357	SHIP2_HUMAN	inositol polyphosphate phosphatase-like 1	1206	Pro-rich.				actin filament organization|cell adhesion|endocytosis	actin cortical patch|cytosol	actin binding|SH2 domain binding|SH3 domain binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						GCCTGGCTGCGGGCCATCGGC	0.701											OREG0021191	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	14					0	0	1	0	0	A	71949150	G	A	71949150	3	1	139	1	0	0	0	0	1	0	0	0	7805	1116	39	1	3723	1	INPPL1	11	71949150	Missense_Mutation	SNP	G	TCGA-DU-A6S6-01A-21D-A32B-08	5329843	71949150	63057366	12	22046											
ZMYM2	7750	broad.mit.edu	37	13	20580521	20580522	+	Frame_Shift_Del	DEL	AT	AT	-			TCGA-DU-A6S6-01A-21D-A32B-08	TCGA-DU-A6S6-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77449994-108b-4776-9b9f-9cbf53a23159	b7018a1e-4b23-405e-8e01-6b3856d018ff	g.chr13:20580521_20580522delAT	ENST00000382869.3	+	6	1558_1559	c.1307_1308delAT	c.(1306-1308)catfs	p.H436fs	ZMYM2_ENST00000382881.3_Frame_Shift_Del_p.H349fs|ZMYM2_ENST00000382874.2_Frame_Shift_Del_p.H436fs|ZMYM2_ENST00000382883.3_Intron|ZMYM2_ENST00000382871.2_Frame_Shift_Del_p.H436fs	NM_001190965.1|NM_003453.3|NM_197968.2	NP_001177894.1|NP_003444.1|NP_932072.1	Q9UBW7	ZMYM2_HUMAN	zinc finger, MYM-type 2	436					regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	ubiquitin conjugating enzyme binding|zinc ion binding			large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10		all_cancers(29;8.65e-21)|all_epithelial(30;1.04e-18)|all_lung(29;6.75e-18)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;0.000148)|Epithelial(112;0.000249)|OV - Ovarian serous cystadenocarcinoma(117;0.00816)|Lung(94;0.0173)|LUSC - Lung squamous cell carcinoma(192;0.0856)		TAGATTCGCCATGAAGTCAGCT	0.312													2	4	---	---	---	---						-	20580522	AT	-	20580521	7	5	139	1	0	1	0	1	0	0	0	0	17758	217	8	0	1321	0	ZMYM2	13	20580521	Frame_Shift_Del	DEL	AT	TCGA-DU-A6S6-01A-21D-A32B-08		20580521	94589357	13	22047											
CENPJ	55835	broad.mit.edu	37	13	25478133	25478133	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-A6S6-01A-21D-A32B-08	TCGA-DU-A6S6-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77449994-108b-4776-9b9f-9cbf53a23159	b7018a1e-4b23-405e-8e01-6b3856d018ff	g.chr13:25478133T>G	ENST00000381884.4	-	8	2941	c.2756A>C	c.(2755-2757)aAg>aCg	p.K919T	CENPJ_ENST00000545981.1_Missense_Mutation_p.K919T	NM_018451.4	NP_060921.3	Q9HC77	CENPJ_HUMAN	centromere protein J	919					cell division|centriole replication|G2/M transition of mitotic cell cycle|microtubule nucleation|microtubule polymerization	centriole|cytosol|gamma-tubulin small complex|microtubule	protein domain specific binding|tubulin binding			endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)		AGCTTTAAACTTTTCTATTTC	0.363													53	67					0	0	1	0	0	G	25478133	T	G	25478133	3	3	139	1	0	0	0	0	1	0	0	0	3256	1609	56	5	1300	5	CENPJ	13	25478133	Missense_Mutation	SNP	T	TCGA-DU-A6S6-01A-21D-A32B-08	4897612	25478133	89691745	14	22048											
DSEL	92126	broad.mit.edu	37	18	65179104	65179104	+	Silent	SNP	C	C	T			TCGA-DU-A6S6-01A-21D-A32B-08	TCGA-DU-A6S6-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77449994-108b-4776-9b9f-9cbf53a23159	b7018a1e-4b23-405e-8e01-6b3856d018ff	g.chr18:65179104C>T	ENST00000310045.7	-	2	4245	c.2772G>A	c.(2770-2772)ggG>ggA	p.G924G	CTD-2541J13.2_ENST00000583493.1_RNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	914						integral to membrane	isomerase activity|sulfotransferase activity			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				AACGAAAATGCCCACTGCGGA	0.438													4	65					0	0	1	0	0	T	65179104	C	T	65179104	2	4	139	1	0	0	0	0	0	0	0	1	4801	726	26	2		2	DSEL	18	65179104	Silent	SNP	C	TCGA-DU-A6S6-01A-21D-A32B-08		65179104	12898144	15	22049											
IGFL2	147920	broad.mit.edu	37	19	46652260	46652260	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DU-A6S6-01A-21D-A32B-08	TCGA-DU-A6S6-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77449994-108b-4776-9b9f-9cbf53a23159	b7018a1e-4b23-405e-8e01-6b3856d018ff	g.chr19:46652260delA	ENST00000434646.2	+	2	309	c.18delA	c.(16-18)tcafs	p.S6fs	IGFL2_ENST00000600243.1_Intron|IGFL2_ENST00000377693.4_Intron|AC007193.6_ENST00000597989.1_lincRNA	NM_001002915.2	NP_001002915.2	Q6UWQ7	IGFL2_HUMAN	IGF-like family member 2	0						extracellular region	protein binding			cervix(1)|lung(5)	6		Ovarian(192;0.0908)|all_neural(266;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(486;0.031)|Epithelial(262;0.247)		TCAGTGTCTCAGGCATGAGGA	0.552													2	4	---	---	---	---						-	46652260	A	-	46652260	7	5	139	1	0	1	0	1	0	0	0	0	7631	175	7	0	43	0	IGFL2	19	46652260	Frame_Shift_Del	DEL	A	TCGA-DU-A6S6-01A-21D-A32B-08		46652260	12476723	16	22050											
NLRP12	91662	broad.mit.edu	37	19	54314478	54314478	+	Silent	SNP	C	C	T			TCGA-DU-A6S6-01A-21D-A32B-08	TCGA-DU-A6S6-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77449994-108b-4776-9b9f-9cbf53a23159	b7018a1e-4b23-405e-8e01-6b3856d018ff	g.chr19:54314478C>T	ENST00000324134.6	-	3	603	c.435G>A	c.(433-435)gcG>gcA	p.A145A	NLRP12_ENST00000354278.3_Silent_p.A145A|NLRP12_ENST00000345770.5_Silent_p.A145A|NLRP12_ENST00000535162.1_Silent_p.A145A|NLRP12_ENST00000391772.1_Silent_p.A145A|NLRP12_ENST00000391775.3_Silent_p.A145A|NLRP12_ENST00000391773.1_Silent_p.A145A|NLRP12_ENST00000351894.4_Silent_p.A145A	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	145					negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding	p.A145A(1)		NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		CCCCTAGGCGCGCATTGCGGT	0.567													38	9					0	0	1	0	0	T	54314478	C	T	54314478	2	4	139	1	0	0	0	0	0	0	0	1	10521	755	27	1		1	NLRP12	19	54314478	Silent	SNP	C	TCGA-DU-A6S6-01A-21D-A32B-08	7662218	54314478	4814505	17	22051											
JAG1	182	broad.mit.edu	37	20	10620204	10620207	+	Frame_Shift_Del	DEL	TGTT	TGTT	-			TCGA-DU-A6S6-01A-21D-A32B-08	TCGA-DU-A6S6-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77449994-108b-4776-9b9f-9cbf53a23159	b7018a1e-4b23-405e-8e01-6b3856d018ff	g.chr20:10620204_10620207delTGTT	ENST00000254958.5	-	26	4111_4114	c.3596_3599delAACA	c.(3595-3600)aaacagfs	p.KQ1199fs	JAG1_ENST00000423891.2_Frame_Shift_Del_p.KQ1040fs	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN	jagged 1	1199					angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation	extracellular region|integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding|structural molecule activity			biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						TCTGTTGTCCTGTTTGTTTGTCCA	0.564									Alagille Syndrome				69	170	---	---	---	---						-	10620207	TGTT	-	10620204	7	5	139	1	0	1	0	1	0	0	0	0	7978	1580	55	0	61	0	JAG1	20	10620204	Frame_Shift_Del	DEL	TGTT	TCGA-DU-A6S6-01A-21D-A32B-08		10620204	52405316	18	22052											
IL2RB	3560	broad.mit.edu	37	22	37524753	37524753	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A6S6-01A-21D-A32B-08	TCGA-DU-A6S6-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77449994-108b-4776-9b9f-9cbf53a23159	b7018a1e-4b23-405e-8e01-6b3856d018ff	g.chr22:37524753C>T	ENST00000216223.5	-	10	1237	c.1039G>A	c.(1039-1041)Gca>Aca	p.A347T		NM_000878.3	NP_000869.1	P14784	IL2RB_HUMAN	interleukin 2 receptor, beta	347					interspecies interaction between organisms|positive regulation of survival gene product expression|protein complex assembly	external side of plasma membrane|integral to plasma membrane	interleukin-2 receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(5)	23					Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)	CTTAAGGATGCGGGCTCAGGC	0.607													3	49					0	0	1	0	0	T	37524753	C	T	37524753	3	4	139	1	0	0	0	0	1	0	0	0	7731	768	27	1	620	1	IL2RB	22	37524753	Missense_Mutation	SNP	C	TCGA-DU-A6S6-01A-21D-A32B-08		37524753	13779813	19	22053											
TCF20	6942	broad.mit.edu	37	22	42609709	42609709	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A6S6-01A-21D-A32B-08	TCGA-DU-A6S6-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77449994-108b-4776-9b9f-9cbf53a23159	b7018a1e-4b23-405e-8e01-6b3856d018ff	g.chr22:42609709G>A	ENST00000359486.3	-	1	1739	c.1603C>T	c.(1603-1605)Cgg>Tgg	p.R535W	TCF20_ENST00000335626.4_Missense_Mutation_p.R535W	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	535					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						CTTAGTTGCCGCACTCTCTCG	0.557													4	224					0	0	1	0	0	A	42609709	G	A	42609709	3	1	139	1	0	0	0	0	1	0	0	0	15750	1086	38	1	4317	1	TCF20	22	42609709	Missense_Mutation	SNP	G	TCGA-DU-A6S6-01A-21D-A32B-08	5084956	42609709	8694857	20	22054											
MBTPS2	51360	broad.mit.edu	37	X	21871590	21871590	+	Silent	SNP	G	G	A			TCGA-DU-A6S6-01A-21D-A32B-08	TCGA-DU-A6S6-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77449994-108b-4776-9b9f-9cbf53a23159	b7018a1e-4b23-405e-8e01-6b3856d018ff	g.chrX:21871590G>A	ENST00000365779.2	+	5	720	c.639G>A	c.(637-639)tcG>tcA	p.S213S	MBTPS2_ENST00000465888.1_3'UTR|MBTPS2_ENST00000379484.5_Silent_p.S213S			O43462	MBTP2_HUMAN	membrane-bound transcription factor peptidase, site 2	213					cholesterol metabolic process|proteolysis	Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity			breast(2)|endometrium(3)|large_intestine(3)|lung(13)|ovary(1)|skin(2)	24						AACTTATATCGCCAGTCCAGC	0.348													20	199					0	0	1	0	0	A	21871590	G	A	21871590	2	1	139	1	0	0	0	0	0	0	0	1	9412	1074	38	1		1	MBTPS2	23	21871590	Silent	SNP	G	TCGA-DU-A6S6-01A-21D-A32B-08		21871590	133398970	21	22055											
AKAP14	158798	broad.mit.edu	37	X	119037475	119037475	+	Nonsense_Mutation	SNP	A	A	T			TCGA-DU-A6S6-01A-21D-A32B-08	TCGA-DU-A6S6-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77449994-108b-4776-9b9f-9cbf53a23159	b7018a1e-4b23-405e-8e01-6b3856d018ff	g.chrX:119037475A>T	ENST00000371431.3	+	4	461	c.187A>T	c.(187-189)Aaa>Taa	p.K63*	AKAP14_ENST00000371422.1_Nonsense_Mutation_p.K63*|AKAP14_ENST00000394594.2_Nonsense_Mutation_p.K63*|AKAP14_ENST00000334356.2_Nonsense_Mutation_p.K63*|AKAP14_ENST00000371425.4_Nonsense_Mutation_p.K63*|AKAP14_ENST00000371423.2_Nonsense_Mutation_p.K63*	NM_178813.5	NP_848928.1	Q86UN6	AKA28_HUMAN	A kinase (PRKA) anchor protein 14	63						cytoplasm				endometrium(4)|large_intestine(1)|lung(8)	13						AAACCCTTTGAAAAACATCAA	0.403													21	32					0	0	1	0	0	T	119037475	A	T	119037475	4	4	139	1	0	0	0	0	0	1	0	0	447	247	9	5	193	5	AKAP14	23	119037475	Nonsense_Mutation	SNP	A	TCGA-DU-A6S6-01A-21D-A32B-08	97165885	119037475	36233085	22	22056											
MTOR	2475	broad.mit.edu	37	1	11181326	11181326	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-A6S7-01A-21D-A32B-08	TCGA-DU-A6S7-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	952ca0aa-58ee-4267-9db2-6d27b3ad9012	a8b2c3a7-4dbd-4560-a1fc-0bf14103bf7e	g.chr1:11181326A>G	ENST00000361445.4	-	49	6986	c.6910T>C	c.(6910-6912)Tgg>Cgg	p.W2304R	MTOR_ENST00000376838.1_Missense_Mutation_p.W509R	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	2304	PI3K/PI4K.				cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						CTTTTCAGCCACAGCAGCTTG	0.587													8	23					0	0	1	0	0	G	11181326	A	G	11181326	3	3	140	1	0	0	0	0	1	0	0	0	10002	159	6	3	779	3	MTOR	1	11181326	Missense_Mutation	SNP	A	TCGA-DU-A6S7-01A-21D-A32B-08		11181326	238069295	1	22057											
HSPG2	3339	broad.mit.edu	37	1	22222729	22222729	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A6S7-01A-21D-A32B-08	TCGA-DU-A6S7-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	952ca0aa-58ee-4267-9db2-6d27b3ad9012	a8b2c3a7-4dbd-4560-a1fc-0bf14103bf7e	g.chr1:22222729C>T	ENST00000374695.3	-	2	217	c.138G>A	c.(136-138)atG>atA	p.M46I		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	46					angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	GTGTCCAGCGCATTTGGCTTG	0.557													31	112					0	0	1	0	0	T	22222729	C	T	22222729	3	4	140	1	0	0	0	0	1	0	0	0	7474	710	25	2	13421	2	HSPG2	1	22222729	Missense_Mutation	SNP	C	TCGA-DU-A6S7-01A-21D-A32B-08	11041403	22222729	227027892	2	22058											
OCLM	10896	broad.mit.edu	37	1	186370195	186370196	+	Frame_Shift_Del	DEL	AT	AT	-			TCGA-DU-A6S7-01A-21D-A32B-08	TCGA-DU-A6S7-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	952ca0aa-58ee-4267-9db2-6d27b3ad9012	a8b2c3a7-4dbd-4560-a1fc-0bf14103bf7e	g.chr1:186370195_186370196delAT	ENST00000574641.1	+	1	492_493	c.18_19delAT	c.(16-21)ccattafs	p.L9fs	C1orf27_ENST00000367470.3_Intron|C1orf27_ENST00000432021.3_Intron|C1orf27_ENST00000287859.6_Intron|C1orf27_ENST00000419367.3_Intron	NM_022375.3	NP_071770.1	Q9Y5M6	TISR_HUMAN	oculomedin	9					visual perception												TGTATCCACCATTATTGTTAAA	0.356													10	175	---	---	---	---						-	186370196	AT	-	186370195	7	5	140	1	0	1	0	1	0	0	0	0	10867	204	8	0	20	0	OCLM	1	186370195	Frame_Shift_Del	DEL	AT	TCGA-DU-A6S7-01A-21D-A32B-08	164147466	186370195	62880426	3	22059											
OR2W5	441932	broad.mit.edu	37	1	247655187	247655187	+	RNA	SNP	G	G	A			TCGA-DU-A6S7-01A-21D-A32B-08	TCGA-DU-A6S7-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	952ca0aa-58ee-4267-9db2-6d27b3ad9012	a8b2c3a7-4dbd-4560-a1fc-0bf14103bf7e	g.chr1:247655187G>A	ENST00000522351.1	+	0	818							A6NFC9	OR2W5_HUMAN							sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R253Q(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4)	39	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;0.222)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			TCTCTTCTACGGAACCATCAT	0.537													11	72					0	0	1	0	0	A	247655187	G	A	247655187	1	1	140	0	1	0	0	0	0	0	0	0	11082	1116	39	1		1	OR2W5	1	247655187	RNA	SNP	G	TCGA-DU-A6S7-01A-21D-A32B-08	61284992	247655187	1595434	4	22060											
OR2M5	127059	broad.mit.edu	37	1	248309048	248309048	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-A6S7-01A-21D-A32B-08	TCGA-DU-A6S7-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	952ca0aa-58ee-4267-9db2-6d27b3ad9012	a8b2c3a7-4dbd-4560-a1fc-0bf14103bf7e	g.chr1:248309048T>C	ENST00000366476.1	+	1	599	c.599T>C	c.(598-600)tTc>tCc	p.F200S		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	200					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			AAGGTTCTTTTCATCTGCTGT	0.428													20	261					0	0	1	0	0	C	248309048	T	C	248309048	3	2	140	1	0	0	0	0	1	0	0	0	11061	1783	62	3	601	3	OR2M5	1	248309048	Missense_Mutation	SNP	T	TCGA-DU-A6S7-01A-21D-A32B-08	653861	248309048	941573	5	22061											
RPIA	22934	broad.mit.edu	37	2	89049582	89049582	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-A6S7-01A-21D-A32B-08	TCGA-DU-A6S7-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	952ca0aa-58ee-4267-9db2-6d27b3ad9012	a8b2c3a7-4dbd-4560-a1fc-0bf14103bf7e	g.chr2:89049582A>C	ENST00000283646.4	+	9	978	c.923A>C	c.(922-924)aAg>aCg	p.K308T		NM_144563.2	NP_653164.2	P49247	RPIA_HUMAN	ribose 5-phosphate isomerase A	308					pentose-phosphate shunt, non-oxidative branch	cytosol	ribose-5-phosphate isomerase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|skin(1)	18		Acute lymphoblastic leukemia(2;0.000456)|all_hematologic(2;0.00287)				ATGAGGGAGAAGCCTTTCTGT	0.532													3	22					0	0	1	0	0	C	89049582	A	C	89049582	3	2	140	1	0	0	0	0	1	0	0	0	13605	72	3	5	957	5	RPIA	2	89049582	Missense_Mutation	SNP	A	TCGA-DU-A6S7-01A-21D-A32B-08		89049582	154149791	6	22062											
COBLL1	22837	broad.mit.edu	37	2	165551407	165551408	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-DU-A6S7-01A-21D-A32B-08	TCGA-DU-A6S7-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	952ca0aa-58ee-4267-9db2-6d27b3ad9012	a8b2c3a7-4dbd-4560-a1fc-0bf14103bf7e	g.chr2:165551407_165551408delTC	ENST00000375458.2	-	11	2715_2716	c.2494_2495delGA	c.(2494-2496)gacfs	p.D832fs	COBLL1_ENST00000342193.4_Frame_Shift_Del_p.D870fs|COBLL1_ENST00000194871.6_Frame_Shift_Del_p.D937fs|COBLL1_ENST00000392717.2_Frame_Shift_Del_p.D908fs|COBLL1_ENST00000409184.3_Frame_Shift_Del_p.D870fs	NM_001278460.1|NM_001278461.1	NP_001265389.1|NP_001265390.1	Q53SF7	COBL1_HUMAN	cordon-bleu WH2 repeat protein-like 1	908										central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	47						TGTGCCAGTGTCTCTTGTCATT	0.45													20	61	---	---	---	---						-	165551408	TC	-	165551407	7	5	140	1	0	1	0	1	0	0	0	0	3677	1667	58	0	903	0	COBLL1	2	165551407	Frame_Shift_Del	DEL	TC	TCGA-DU-A6S7-01A-21D-A32B-08	76501825	165551407	77647966	7	22063											
CCDC141	285025	broad.mit.edu	37	2	179701639	179701639	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A6S7-01A-21D-A32B-08	TCGA-DU-A6S7-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	952ca0aa-58ee-4267-9db2-6d27b3ad9012	a8b2c3a7-4dbd-4560-a1fc-0bf14103bf7e	g.chr2:179701639G>A	ENST00000420890.2	-	23	4424	c.4307C>T	c.(4306-4308)cCa>cTa	p.P1436L	CCDC141_ENST00000480419.1_5'UTR|CCDC141_ENST00000295723.5_Missense_Mutation_p.P861L	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	861							protein binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			TGTAGGCTCTGGAAATCCTGT	0.428													7	30					0	0	1	0	0	A	179701639	G	A	179701639	3	1	140	1	0	0	0	0	1	0	0	0	2793	1348	47	2	49	2	CCDC141	2	179701639	Missense_Mutation	SNP	G	TCGA-DU-A6S7-01A-21D-A32B-08	14150232	179701639	63497734	8	22064											
IDH1	3417	broad.mit.edu	37	2	209113113	209113113	+	Missense_Mutation	SNP	G	G	T	rs121913499		TCGA-DU-A6S7-01A-21D-A32B-08	TCGA-DU-A6S7-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	952ca0aa-58ee-4267-9db2-6d27b3ad9012	a8b2c3a7-4dbd-4560-a1fc-0bf14103bf7e	g.chr2:209113113G>T	ENST00000415913.1	-	4	775	c.394C>A	c.(394-396)Cgt>Agt	p.R132S	IDH1_ENST00000446179.1_Missense_Mutation_p.R132S|IDH1_ENST00000345146.2_Missense_Mutation_p.R132S	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		TAAGCATGACGACCTATGATG	0.398			Mis		gliobastoma								15	20					1.99824e-07	2.18854e-07	1	1	0	T	209113113	G	T	209113113	3	4	140	1	0	0	0	0	1	0	0	0	7538	1058	37	5	878	5	IDH1	2	209113113	Missense_Mutation	SNP	G	TCGA-DU-A6S7-01A-21D-A32B-08	29411474	209113113	34086260	9	22065											
BTLA	151888	broad.mit.edu	37	3	112185016	112185016	+	Missense_Mutation	SNP	C	C	A	rs138132778		TCGA-DU-A6S7-01A-21D-A32B-08	TCGA-DU-A6S7-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	952ca0aa-58ee-4267-9db2-6d27b3ad9012	a8b2c3a7-4dbd-4560-a1fc-0bf14103bf7e	g.chr3:112185016C>A	ENST00000334529.5	-	5	1011	c.809G>T	c.(808-810)aGa>aTa	p.R270I	BTLA_ENST00000383680.4_Missense_Mutation_p.R222I|BTLA_ENST00000474965.1_5'UTR	NM_181780.3	NP_861445	Q7Z6A9	BTLA_HUMAN	B and T lymphocyte associated	270					T cell costimulation		receptor activity			breast(1)|central_nervous_system(1)|cervix(2)|large_intestine(1)|lung(5)|prostate(1)	11		Acute lymphoblastic leukemia(4;1.34e-07)|all_hematologic(4;0.000361)				TCTTGCCAGTCTTGAGTTCGG	0.423													4	109					0.150653	0.150653	1	1	0	A	112185016	C	A	112185016	3	1	140	1	0	0	0	0	1	0	0	0	1561	913	32	4	64	4	BTLA	3	112185016	Missense_Mutation	SNP	C	TCGA-DU-A6S7-01A-21D-A32B-08		112185016	85837414	10	22066											
CPNE4	131034	broad.mit.edu	37	3	131388554	131388554	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-A6S7-01A-21D-A32B-08	TCGA-DU-A6S7-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	952ca0aa-58ee-4267-9db2-6d27b3ad9012	a8b2c3a7-4dbd-4560-a1fc-0bf14103bf7e	g.chr3:131388554A>G	ENST00000512055.1	-	11	2772	c.646T>C	c.(646-648)Tct>Cct	p.S216P	CPNE4_ENST00000429747.1_Missense_Mutation_p.S216P|CPNE4_ENST00000502818.1_Missense_Mutation_p.S234P|CPNE4_ENST00000512332.1_Missense_Mutation_p.S234P|CPNE4_ENST00000511604.1_Missense_Mutation_p.S216P			Q96A23	CPNE4_HUMAN	copine IV	216	C2 2.									central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|liver(1)|lung(16)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	39						CTGCATAGAGAATTTACAGAT	0.398													24	109					0	0	1	0	0	G	131388554	A	G	131388554	3	3	140	1	0	0	0	0	1	0	0	0	3837	246	9	3	1067	3	CPNE4	3	131388554	Missense_Mutation	SNP	A	TCGA-DU-A6S7-01A-21D-A32B-08	19203538	131388554	66633876	11	22067											
TRPC7	57113	broad.mit.edu	37	5	135692453	135692453	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A6S7-01A-21D-A32B-08	TCGA-DU-A6S7-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	952ca0aa-58ee-4267-9db2-6d27b3ad9012	a8b2c3a7-4dbd-4560-a1fc-0bf14103bf7e	g.chr5:135692453C>T	ENST00000513104.1	-	2	905	c.623G>A	c.(622-624)cGg>cAg	p.R208Q	TRPC7_ENST00000426057.2_Missense_Mutation_p.R208Q|TRPC7_ENST00000355180.3_Missense_Mutation_p.R208Q	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	208					axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GGAGTCTTTCCGCTGTTTCTC	0.597													11	25					0	0	1	0	0	T	135692453	C	T	135692453	3	4	140	1	0	0	0	0	1	0	0	0	16645	652	23	1	2009	1	TRPC7	5	135692453	Missense_Mutation	SNP	C	TCGA-DU-A6S7-01A-21D-A32B-08		135692453	45222807	12	22068											
WHSC1L1	54904	broad.mit.edu	37	8	38187162	38187162	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A6S7-01A-21D-A32B-08	TCGA-DU-A6S7-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	952ca0aa-58ee-4267-9db2-6d27b3ad9012	a8b2c3a7-4dbd-4560-a1fc-0bf14103bf7e	g.chr8:38187162C>T	ENST00000317025.8	-	6	1832	c.1315G>A	c.(1315-1317)Gcc>Acc	p.A439T	WHSC1L1_ENST00000527502.1_Missense_Mutation_p.A439T|WHSC1L1_ENST00000316985.3_Missense_Mutation_p.A439T|WHSC1L1_ENST00000433384.2_Missense_Mutation_p.A439T	NM_023034.1	NP_075447.1	Q9BZ95	NSD3_HUMAN	Wolf-Hirschhorn syndrome candidate 1-like 1	439					cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome	histone-lysine N-methyltransferase activity|zinc ion binding			NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)			AGTGAGGAGGCCACCTCCCCT	0.498			T	NUP98	AML								17	107					0	0	1	0	0	T	38187162	C	T	38187162	3	4	140	1	0	0	0	0	1	0	0	0	17423	739	26	2	3161	2	WHSC1L1	8	38187162	Missense_Mutation	SNP	C	TCGA-DU-A6S7-01A-21D-A32B-08		38187162	108176860	13	22069											
COL22A1	169044	broad.mit.edu	37	8	139890318	139890318	+	Silent	SNP	G	G	A			TCGA-DU-A6S7-01A-21D-A32B-08	TCGA-DU-A6S7-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	952ca0aa-58ee-4267-9db2-6d27b3ad9012	a8b2c3a7-4dbd-4560-a1fc-0bf14103bf7e	g.chr8:139890318G>A	ENST00000303045.6	-	3	779	c.333C>T	c.(331-333)caC>caT	p.H111H	COL22A1_ENST00000435777.1_Silent_p.H111H	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	111	VWFA.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			TGTTGCCCCCGTGGTAGGCGA	0.711										HNSCC(7;0.00092)			3	9					0	0	1	0	0	A	139890318	G	A	139890318	2	1	140	1	0	0	0	0	0	0	0	1	3704	1136	40	1		1	COL22A1	8	139890318	Silent	SNP	G	TCGA-DU-A6S7-01A-21D-A32B-08	101703156	139890318	6473704	14	22070											
OR1L4	254973	broad.mit.edu	37	9	125486748	125486748	+	Silent	SNP	C	C	T			TCGA-DU-A6S7-01A-21D-A32B-08	TCGA-DU-A6S7-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	952ca0aa-58ee-4267-9db2-6d27b3ad9012	a8b2c3a7-4dbd-4560-a1fc-0bf14103bf7e	g.chr9:125486748C>T	ENST00000259466.1	+	1	480	c.480C>T	c.(478-480)cgC>cgT	p.R160R		NM_001005235.1	NP_001005235.1	Q8NGR5	OR1L4_HUMAN	olfactory receptor, family 1, subfamily L, member 4	160					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|large_intestine(3)|lung(13)|prostate(1)|skin(1)	20						CCCTGTTCCGCGTGCTACTTA	0.478													17	170					0	0	1	0	0	T	125486748	C	T	125486748	2	4	140	1	0	0	0	0	0	0	0	1	11013	755	27	1		1	OR1L4	9	125486748	Silent	SNP	C	TCGA-DU-A6S7-01A-21D-A32B-08		125486748	15726683	15	22071											
RET	5979	broad.mit.edu	37	10	43623650	43623650	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-A6S7-01A-21D-A32B-08	TCGA-DU-A6S7-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	952ca0aa-58ee-4267-9db2-6d27b3ad9012	a8b2c3a7-4dbd-4560-a1fc-0bf14103bf7e	g.chr10:43623650A>G	ENST00000355710.3	+	20	3510	c.3278A>G	c.(3277-3279)gAt>gGt	p.D1093G		NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	1093					homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Sunitinib(DB01268)	TATCCAAATGATAGTGTATAT	0.438		1	"T, Mis, N, F"	"H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"	"medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"	"medullary thyroid,  papillary thyroid, pheochromocytoma"	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma				5	99					0	0	1	0	0	G	43623650	A	G	43623650	3	3	140	1	0	0	0	0	1	0	0	0	13287	333	12	3	3388	3	RET	10	43623650	Missense_Mutation	SNP	A	TCGA-DU-A6S7-01A-21D-A32B-08		43623650	91911097	16	22072											
LIPN	643418	broad.mit.edu	37	10	90524167	90524167	+	Splice_Site	SNP	G	G	A			TCGA-DU-A6S7-01A-21D-A32B-08	TCGA-DU-A6S7-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	952ca0aa-58ee-4267-9db2-6d27b3ad9012	a8b2c3a7-4dbd-4560-a1fc-0bf14103bf7e	g.chr10:90524167G>A	ENST00000404459.1	+	3	227	c.227G>A	c.(226-228)gGt>gAt	p.G76D		NM_001102469.1	NP_001095939.1	Q5VXI9	LIPN_HUMAN	lipase, family member N	76					lipid catabolic process	extracellular region	hydrolase activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(1)|skin(1)	9		Colorectal(252;0.0161)		Colorectal(12;4.83e-05)|COAD - Colon adenocarcinoma(12;6.5e-05)		CCCCCACCAGGTCCCCGGCCA	0.453													11	46					0	0	1	0	0	A	90524167	G	A	90524167	5	1	140	1	0	0	0	0	0	0	1	0	8869	1275	44	2	237	2	LIPN	10	90524167	Splice_Site	SNP	G	TCGA-DU-A6S7-01A-21D-A32B-08	46900517	90524167	45010580	17	22073											
PNLIPRP2	5408	broad.mit.edu	37	10	118396277	118396278	+	RNA	INS	-	-	T	rs148140777	by1000genomes	TCGA-DU-A6S7-01A-21D-A32B-08	TCGA-DU-A6S7-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	952ca0aa-58ee-4267-9db2-6d27b3ad9012	a8b2c3a7-4dbd-4560-a1fc-0bf14103bf7e	g.chr10:118396277_118396278insT	ENST00000537242.1	+	0	962				PNLIPRP2_ENST00000298771.7_RNA|PNLIPRP2_ENST00000433618.4_RNA	NM_005396.4	NP_005387.2	P54317	LIPR2_HUMAN	pancreatic lipase-related protein 2						galactolipid catabolic process|lipid digestion|phospholipid catabolic process|triglyceride metabolic process	extracellular space	acylglycerol lipase activity|calcium ion binding|galactolipase activity|phospholipase activity|triglyceride lipase activity			endometrium(1)|large_intestine(1)|lung(11)|prostate(3)	16				all cancers(201;0.015)		GACAAATTATGGTTTTTTTTTT	0.421													4	5	---	---	---	---						T	118396278	-	T	118396277	6	5	140	0	1	1	1	0	0	0	0	0	12199	1363	47	0		0	PNLIPRP2	10	118396277	RNA	INS	-	TCGA-DU-A6S7-01A-21D-A32B-08	27872110	118396277	17138470	18	22074											
DMBT1	1755	broad.mit.edu	37	10	124348751	124348751	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-A6S7-01A-21D-A32B-08	TCGA-DU-A6S7-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	952ca0aa-58ee-4267-9db2-6d27b3ad9012	a8b2c3a7-4dbd-4560-a1fc-0bf14103bf7e	g.chr10:124348751G>T	ENST00000338354.3	+	17	2181	c.2075G>T	c.(2074-2076)gGc>gTc	p.G692V	DMBT1_ENST00000330163.4_Intron|DMBT1_ENST00000368956.2_Intron|DMBT1_ENST00000344338.3_Missense_Mutation_p.G682V|DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000368909.3_Missense_Mutation_p.G692V|DMBT1_ENST00000368955.3_Missense_Mutation_p.G682V			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	692	SRCR 5.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				CACAACTGTGGCCATCATGAA	0.542													4	58					0.00024832	0.000265645	1	1	0	T	124348751	G	T	124348751	3	4	140	1	0	0	0	0	1	0	0	0	4605	1203	42	5	2141	5	DMBT1	10	124348751	Missense_Mutation	SNP	G	TCGA-DU-A6S7-01A-21D-A32B-08	5952474	124348751	11185996	19	22075											
SBF2	81846	broad.mit.edu	37	11	9810864	9810864	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-A6S7-01A-21D-A32B-08	TCGA-DU-A6S7-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	952ca0aa-58ee-4267-9db2-6d27b3ad9012	a8b2c3a7-4dbd-4560-a1fc-0bf14103bf7e	g.chr11:9810864G>C	ENST00000256190.8	-	35	4861	c.4724C>G	c.(4723-4725)tCt>tGt	p.S1575C	SBF2-AS1_ENST00000534671.1_RNA|SBF2-AS1_ENST00000526617.1_RNA|SBF2-AS1_ENST00000498905.2_RNA|SBF2-AS1_ENST00000525636.1_RNA|SBF2-AS1_ENST00000499953.2_RNA	NM_030962.3	NP_112224.1	Q86WG5	MTMRD_HUMAN	SET binding factor 2	1575	Myotubularin phosphatase.				myelination	cytoplasm|membrane	phosphatase activity|protein binding			breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		CTTGAGGCTAGAGACGTTTAC	0.473													7	62					0	0	1	0	0	C	9810864	G	C	9810864	3	2	140	1	0	0	0	0	1	0	0	0	13912	942	33	4	849	4	SBF2	11	9810864	Missense_Mutation	SNP	G	TCGA-DU-A6S7-01A-21D-A32B-08		9810864	125195652	20	22076											
OR5D13	390142	broad.mit.edu	37	11	55541619	55541619	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A6S7-01A-21D-A32B-08	TCGA-DU-A6S7-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	952ca0aa-58ee-4267-9db2-6d27b3ad9012	a8b2c3a7-4dbd-4560-a1fc-0bf14103bf7e	g.chr11:55541619C>T	ENST00000361760.1	+	1	706	c.706C>T	c.(706-708)Cgc>Tgc	p.R236C		NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D, member 13	236			R -> L (in dbSNP:rs7124871).		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				TGCAAGTGGGCGCCAGAAAAC	0.408													24	75					0	0	1	0	0	T	55541619	C	T	55541619	3	4	140	1	0	0	0	0	1	0	0	0	11201	768	27	1	708	1	OR5D13	11	55541619	Missense_Mutation	SNP	C	TCGA-DU-A6S7-01A-21D-A32B-08	45730755	55541619	79464897	21	22077											
MMP12	4321	broad.mit.edu	37	11	102737945	102737945	+	RNA	DEL	A	A	-	rs28381681		TCGA-DU-A6S7-01A-21D-A32B-08	TCGA-DU-A6S7-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	952ca0aa-58ee-4267-9db2-6d27b3ad9012	a8b2c3a7-4dbd-4560-a1fc-0bf14103bf7e	g.chr11:102737945delA	ENST00000532855.1	-	0	1007							P39900	MMP12_HUMAN	matrix metallopeptidase 12 (macrophage elastase)						positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.014)	Acetohydroxamic Acid(DB00551)	GTTTTCTGACAAAAAAAATTT	0.338													6	3	---	---	---	---						-	102737945	A	-	102737945	6	5	140	0	1	1	0	1	0	0	0	0	9699	145	5	0		0	MMP12	11	102737945	RNA	DEL	A	TCGA-DU-A6S7-01A-21D-A32B-08	47196326	102737945	32268571	22	22078											
KATNAL1	84056	broad.mit.edu	37	13	30857773	30857773	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-A6S7-01A-21D-A32B-08	TCGA-DU-A6S7-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	952ca0aa-58ee-4267-9db2-6d27b3ad9012	a8b2c3a7-4dbd-4560-a1fc-0bf14103bf7e	g.chr13:30857773T>C	ENST00000380615.3	-	2	309	c.142A>G	c.(142-144)Atc>Gtc	p.I48V	KATNAL1_ENST00000380617.3_Missense_Mutation_p.I48V	NM_032116.4	NP_115492.1	Q9BW62	KATL1_HUMAN	katanin p60 subunit A-like 1	48						cytoplasm|microtubule	ATP binding|microtubule-severing ATPase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|skin(1)|urinary_tract(3)	19		Lung SC(185;0.0257)		all cancers(112;0.114)|OV - Ovarian serous cystadenocarcinoma(117;0.213)		TTGCCTTTGATAGCTGGATCT	0.398													33	120					0	0	1	0	0	C	30857773	T	C	30857773	3	2	140	1	0	0	0	0	1	0	0	0	8029	1406	49	3	1370	3	KATNAL1	13	30857773	Missense_Mutation	SNP	T	TCGA-DU-A6S7-01A-21D-A32B-08		30857773	84312105	23	22079											
ATP11A	23250	broad.mit.edu	37	13	113536317	113536317	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-A6S7-01A-21D-A32B-08	TCGA-DU-A6S7-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	952ca0aa-58ee-4267-9db2-6d27b3ad9012	a8b2c3a7-4dbd-4560-a1fc-0bf14103bf7e	g.chr13:113536317A>G	ENST00000375630.2	+	29	3603	c.3515A>G	c.(3514-3516)cAc>cGc	p.H1172R	ATP11A_ENST00000487903.1_3'UTR|ATP11A_ENST00000375645.3_3'UTR	NM_032189.3	NP_115565.3	P98196	AT11A_HUMAN	ATPase, class VI, type 11A	0					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)				GGTTCCCATCACCACTGCAGT	0.627													23	37					0	0	1	0	0	G	113536317	A	G	113536317	3	3	140	1	0	0	0	0	1	0	0	0	1118	159	6	3	3711	3	ATP11A	13	113536317	Missense_Mutation	SNP	A	TCGA-DU-A6S7-01A-21D-A32B-08	82678544	113536317	1633561	24	22080											
SLC6A2	6530	broad.mit.edu	37	16	55730230	55730230	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A6S7-01A-21D-A32B-08	TCGA-DU-A6S7-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	952ca0aa-58ee-4267-9db2-6d27b3ad9012	a8b2c3a7-4dbd-4560-a1fc-0bf14103bf7e	g.chr16:55730230C>T	ENST00000379906.2	+	8	1496	c.1241C>T	c.(1240-1242)gCg>gTg	p.A414V	SLC6A2_ENST00000566163.1_Missense_Mutation_p.A369V|SLC6A2_ENST00000568943.1_Missense_Mutation_p.A414V|SLC6A2_ENST00000561820.1_Missense_Mutation_p.A414V|SLC6A2_ENST00000219833.8_Missense_Mutation_p.A414V|SLC6A2_ENST00000567238.1_Missense_Mutation_p.A309V|SLC6A2_ENST00000414754.3_Missense_Mutation_p.A414V	NM_001043.3	NP_001034.1	P23975	SC6A2_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 2	414					synaptic transmission	integral to plasma membrane|membrane fraction	norepinephrine:sodium symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(3)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267)	Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Atomoxetine(DB00289)|Bethanidine(DB00217)|Bupropion(DB01156)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Diethylpropion(DB00937)|Doxepin(DB01142)|Duloxetine(DB00476)|Ergotamine(DB00696)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Maprotiline(DB00934)|Mazindol(DB00579)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)	ATGCTCCTGGCGCTGGGCCTT	0.557													4	71					0	0	1	0	0	T	55730230	C	T	55730230	3	4	140	1	0	0	0	0	1	0	0	0	14738	768	27	1	1362	1	SLC6A2	16	55730230	Missense_Mutation	SNP	C	TCGA-DU-A6S7-01A-21D-A32B-08		55730230	34624523	25	22081											
SDR42E1	93517	broad.mit.edu	37	16	82033700	82033700	+	Silent	SNP	T	T	C			TCGA-DU-A6S7-01A-21D-A32B-08	TCGA-DU-A6S7-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	952ca0aa-58ee-4267-9db2-6d27b3ad9012	a8b2c3a7-4dbd-4560-a1fc-0bf14103bf7e	g.chr16:82033700T>C	ENST00000328945.5	-	3	325	c.198A>G	c.(196-198)aaA>aaG	p.K66K	SDR42E1_ENST00000534209.1_5'UTR	NM_145168.2	NP_660151.2	Q8WUS8	D42E1_HUMAN	short chain dehydrogenase/reductase family 42E, member 1	66					steroid biosynthetic process	integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding			NS(2)|endometrium(1)|lung(4)|skin(3)	10						CCTGGAAGGCTTTCTCTACGT	0.473													7	124					0	0	1	0	0	C	82033700	T	C	82033700	2	2	140	1	0	0	0	0	0	0	0	1	14027	1606	56	3		3	SDR42E1	16	82033700	Silent	SNP	T	TCGA-DU-A6S7-01A-21D-A32B-08	26303470	82033700	8321053	26	22082											
TP53	7157	broad.mit.edu	37	17	7578454	7578454	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A6S7-01A-21D-A32B-08	TCGA-DU-A6S7-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	952ca0aa-58ee-4267-9db2-6d27b3ad9012	a8b2c3a7-4dbd-4560-a1fc-0bf14103bf7e	g.chr17:7578454G>A	ENST00000420246.2	-	5	608	c.476C>T	c.(475-477)gCc>gTc	p.A159V	TP53_ENST00000445888.2_Missense_Mutation_p.A159V|TP53_ENST00000413465.2_Missense_Mutation_p.A159V|TP53_ENST00000359597.4_Missense_Mutation_p.A159V|TP53_ENST00000455263.2_Missense_Mutation_p.A159V|TP53_ENST00000269305.4_Missense_Mutation_p.A159V	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	159	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).		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.A159V(33)|p.0?(8)|p.A159D(7)|p.R158fs(6)|p.R65fs(2)|p.R158_A159delRA(2)|p.R156_I162delRVRAMAI(2)|p.V157fs*9(2)|p.R26fs(2)|p.V157_C176del20(1)|p.R156_A161delRVRAMA(1)|p.P151_V173del23(1)|p.R156fs*18(1)|p.R156_A161del(1)|p.V157_M160delVRAM(1)|p.R158fs*11(1)|p.A66V(1)|p.S149fs*72(1)|p.A159fs*21(1)|p.T155_A161delTRVRAMA(1)|p.A27V(1)|p.R156fs*20(1)|p.V157_I162delVRAMAI(1)|p.A159_Q167delAMAIYKQSQ(1)|p.V157fs*21(1)|p.R158fs*8(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)		GATGGCCATGGCGCGGACGCG	0.627		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)			47	6					0	0	1	0	0	A	7578454	G	A	7578454	3	1	140	1	0	0	0	0	1	0	0	0	16442	1203	42	2	822	2	TP53	17	7578454	Missense_Mutation	SNP	G	TCGA-DU-A6S7-01A-21D-A32B-08		7578454	73616756	27	22083											
MYH1	4619	broad.mit.edu	37	17	10411951	10411951	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-A6S7-01A-21D-A32B-08	TCGA-DU-A6S7-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	952ca0aa-58ee-4267-9db2-6d27b3ad9012	a8b2c3a7-4dbd-4560-a1fc-0bf14103bf7e	g.chr17:10411951C>A	ENST00000226207.5	-	16	1720	c.1626G>T	c.(1624-1626)atG>atT	p.M542I	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	542	Myosin head-like.					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						CCTTGGGGAACATGCACTCCT	0.433													19	75					1.42536e-11	1.63916e-11	1	1	0	A	10411951	C	A	10411951	3	1	140	1	0	0	0	0	1	0	0	0	10077	478	17	5	4293	5	MYH1	17	10411951	Missense_Mutation	SNP	C	TCGA-DU-A6S7-01A-21D-A32B-08	2833497	10411951	70783259	28	22084											
FOXS1	2307	broad.mit.edu	37	20	30433325	30433325	+	Silent	SNP	G	G	A			TCGA-DU-A6S7-01A-21D-A32B-08	TCGA-DU-A6S7-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	952ca0aa-58ee-4267-9db2-6d27b3ad9012	a8b2c3a7-4dbd-4560-a1fc-0bf14103bf7e	g.chr20:30433325G>A	ENST00000375978.3	-	1	95	c.21C>T	c.(19-21)ccC>ccT	p.P7P		NM_004118.3	NP_004109.1	O43638	FOXS1_HUMAN	forkhead box S1	7					anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|insulin receptor signaling pathway|lymphangiogenesis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|neural crest cell fate commitment|neuromuscular process controlling balance|Notch signaling pathway|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of multicellular organism growth|positive regulation of transcription from RNA polymerase II promoter|regulation of blood vessel size|regulation of organ growth|somitogenesis|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	transcription factor complex	chromatin DNA binding|DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	p.P7P(1)		kidney(1)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	9						CGCCAGGCCCGGGCAGAGGCT	0.682													21	51					0	0	1	0	0	A	30433325	G	A	30433325	2	1	140	1	0	0	0	0	0	0	0	1	6069	1103	39	1		1	FOXS1	20	30433325	Silent	SNP	G	TCGA-DU-A6S7-01A-21D-A32B-08		30433325	32592195	29	22085											
MYL9	10398	broad.mit.edu	37	20	35173452	35173452	+	Silent	SNP	C	C	T			TCGA-DU-A6S7-01A-21D-A32B-08	TCGA-DU-A6S7-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	952ca0aa-58ee-4267-9db2-6d27b3ad9012	a8b2c3a7-4dbd-4560-a1fc-0bf14103bf7e	g.chr20:35173452C>T	ENST00000279022.2	+	2	269	c.165C>T	c.(163-165)caC>caT	p.H55H	RP5-977B1.7_ENST00000439595.1_RNA|RP5-977B1.7_ENST00000425233.1_RNA|MYL9_ENST00000346786.2_Silent_p.H55H	NM_006097.4	NP_006088.2	P24844	MYL9_HUMAN	myosin, light chain 9, regulatory	55	EF-hand 1.				axon guidance|muscle contraction|regulation of muscle contraction	cytosol|muscle myosin complex	calcium ion binding|structural constituent of muscle			endometrium(2)|kidney(1)|large_intestine(3)|lung(2)	8	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				AGGACCTGCACGACATGCTGG	0.547													4	64					0	0	1	0	0	T	35173452	C	T	35173452	2	4	140	1	0	0	0	0	0	0	0	1	10102	535	19	1		1	MYL9	20	35173452	Silent	SNP	C	TCGA-DU-A6S7-01A-21D-A32B-08	4740127	35173452	27852068	30	22086											
PI3	5266	broad.mit.edu	37	20	43804744	43804744	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-A6S7-01A-21D-A32B-08	TCGA-DU-A6S7-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	952ca0aa-58ee-4267-9db2-6d27b3ad9012	a8b2c3a7-4dbd-4560-a1fc-0bf14103bf7e	g.chr20:43804744T>C	ENST00000243924.3	+	2	369	c.322T>C	c.(322-324)Tct>Cct	p.S108P		NM_002638.3	NP_002629.1	P19957	ELAF_HUMAN	peptidase inhibitor 3, skin-derived	108	WAP.				copulation	proteinaceous extracellular matrix	serine-type endopeptidase inhibitor activity			large_intestine(1)|lung(5)|skin(1)	7		Myeloproliferative disorder(115;0.0122)				CTGTGAAGGCTCTTGCGGGAT	0.552													18	51					0	0	1	0	0	C	43804744	T	C	43804744	3	2	140	1	0	0	0	0	1	0	0	0	11918	1551	54	3	328	3	PI3	20	43804744	Missense_Mutation	SNP	T	TCGA-DU-A6S7-01A-21D-A32B-08	8631292	43804744	19220776	31	22087											
UCKL1	54963	broad.mit.edu	37	20	62571549	62571549	+	Silent	SNP	C	C	T			TCGA-DU-A6S7-01A-21D-A32B-08	TCGA-DU-A6S7-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	952ca0aa-58ee-4267-9db2-6d27b3ad9012	a8b2c3a7-4dbd-4560-a1fc-0bf14103bf7e	g.chr20:62571549C>T	ENST00000369908.5	-	14	1775	c.1476G>A	c.(1474-1476)gcG>gcA	p.A492A	UCKL1_ENST00000354216.6_Silent_p.A507A|UCKL1_ENST00000358711.3_3'UTR|UCKL1_ENST00000369892.3_Silent_p.A507A	NM_001193379.1	NP_001180308.1	Q9NWZ5	UCKL1_HUMAN	uridine-cytidine kinase 1-like 1	507					interspecies interaction between organisms	endoplasmic reticulum|nucleus	ATP binding|phosphotransferase activity, alcohol group as acceptor|protein binding|uridine kinase activity			endometrium(3)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	8	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					GCTTGTCCACCGCCGTGGTGA	0.602													3	32					0	0	1	0	0	T	62571549	C	T	62571549	2	4	140	1	0	0	0	0	0	0	0	1	16985	639	23	1		1	UCKL1	20	62571549	Silent	SNP	C	TCGA-DU-A6S7-01A-21D-A32B-08	18766805	62571549	453971	32	22088											
EMID1	129080	broad.mit.edu	37	22	29630137	29630137	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DU-A6S7-01A-21D-A32B-08	TCGA-DU-A6S7-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	952ca0aa-58ee-4267-9db2-6d27b3ad9012	a8b2c3a7-4dbd-4560-a1fc-0bf14103bf7e	g.chr22:29630137delC	ENST00000334018.6	+	11	1166	c.978delC	c.(976-978)ggcfs	p.G326fs	EMID1_ENST00000404820.3_Frame_Shift_Del_p.G326fs|EMID1_ENST00000404755.3_Intron	NM_001267895.1|NM_133455.3	NP_001254824.1|NP_597712.2	Q96A84	EMID1_HUMAN	EMI domain containing 1	324	Collagen-like.					collagen				NS(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(2)|skin(3)	12						GACCCCCAGGCCCCACTGGAC	0.642													2	4	---	---	---	---						-	29630137	C	-	29630137	7	5	140	1	0	1	0	1	0	0	0	0	5119	726	26	0	1020	0	EMID1	22	29630137	Frame_Shift_Del	DEL	C	TCGA-DU-A6S7-01A-21D-A32B-08		29630137	21674429	33	22089											
CELSR1	9620	broad.mit.edu	37	22	46780468	46780468	+	Silent	SNP	G	G	A			TCGA-DU-A6S7-01A-21D-A32B-08	TCGA-DU-A6S7-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	952ca0aa-58ee-4267-9db2-6d27b3ad9012	a8b2c3a7-4dbd-4560-a1fc-0bf14103bf7e	g.chr22:46780468G>A	ENST00000262738.3	-	20	6854	c.6855C>T	c.(6853-6855)gcC>gcT	p.A2285A		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	2285					central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		TGAAGAAGTCGGCTGGGAAGG	0.587													7	9					0	0	1	0	0	A	46780468	G	A	46780468	2	1	140	1	0	0	0	0	0	0	0	1	3243	1103	39	1		1	CELSR1	22	46780468	Silent	SNP	G	TCGA-DU-A6S7-01A-21D-A32B-08	17150331	46780468	4524098	34	22090											
ARSD	414	broad.mit.edu	37	X	2825456	2825456	+	Silent	SNP	G	G	A			TCGA-DU-A6S7-01A-21D-A32B-08	TCGA-DU-A6S7-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	952ca0aa-58ee-4267-9db2-6d27b3ad9012	a8b2c3a7-4dbd-4560-a1fc-0bf14103bf7e	g.chrX:2825456G>A	ENST00000381154.1	-	10	1713	c.1638C>T	c.(1636-1638)gcC>gcT	p.A546A		NM_001669.3	NP_001660.2	P51689	ARSD_HUMAN	arylsulfatase D	546						lysosome	arylsulfatase activity|metal ion binding			large_intestine(3)|lung(3)	6		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CCGACACCGCGGCACCTACCC	0.647													12	12					0	0	1	0	0	A	2825456	G	A	2825456	2	1	140	1	0	0	0	0	0	0	0	1	988	1103	39	1		1	ARSD	23	2825456	Silent	SNP	G	TCGA-DU-A6S7-01A-21D-A32B-08		2825456	152445104	35	22091											
WNK3	65267	broad.mit.edu	37	X	54321052	54321052	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-A6S7-01A-21D-A32B-08	TCGA-DU-A6S7-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	952ca0aa-58ee-4267-9db2-6d27b3ad9012	a8b2c3a7-4dbd-4560-a1fc-0bf14103bf7e	g.chrX:54321052C>A	ENST00000354646.2	-	8	2065	c.1627G>T	c.(1627-1629)Gtt>Ttt	p.V543F	WNK3_ENST00000375159.2_Missense_Mutation_p.V543F|WNK3_ENST00000375169.3_Missense_Mutation_p.V543F	NM_020922.4	NP_065973.2	Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3	543					intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation	adherens junction|tight junction	ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity			autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						TGTTGATCAACTTCAGTTTCT	0.453													5	17					0.0293803	0.0307158	1	1	0	A	54321052	C	A	54321052	3	1	140	1	0	0	0	0	1	0	0	0	17439	565	20	4	3843	4	WNK3	23	54321052	Missense_Mutation	SNP	C	TCGA-DU-A6S7-01A-21D-A32B-08	51495596	54321052	100949508	36	22092											
OGT	8473	broad.mit.edu	37	X	70783246	70783246	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A6S7-01A-21D-A32B-08	TCGA-DU-A6S7-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	952ca0aa-58ee-4267-9db2-6d27b3ad9012	a8b2c3a7-4dbd-4560-a1fc-0bf14103bf7e	g.chrX:70783246C>T	ENST00000373719.3	+	18	2550	c.2333C>T	c.(2332-2334)cCt>cTt	p.P778L	OGT_ENST00000373701.3_Missense_Mutation_p.P768L	NM_181672.2|NM_181673.2	NP_858058.1|NP_858059.1	O15294	OGT1_HUMAN	O-linked N-acetylglucosamine (GlcNAc) transferase	778					cellular response to retinoic acid|positive regulation of granulocyte differentiation|positive regulation of histone H3-K4 methylation|positive regulation of proteolysis|protein O-linked glycosylation|signal transduction	cytosol|MLL5-L complex	enzyme activator activity|protein binding|protein N-acetylglucosaminyltransferase activity			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Renal(35;0.156)					CCTGTTATTCCTATGAATACT	0.358													6	63					0	0	1	0	0	T	70783246	C	T	70783246	3	4	140	1	0	0	0	0	1	0	0	0	10895	681	24	2	2403	2	OGT	23	70783246	Missense_Mutation	SNP	C	TCGA-DU-A6S7-01A-21D-A32B-08	16462194	70783246	84487314	37	22093											
ATRX	546	broad.mit.edu	37	X	76814303	76814306	+	Frame_Shift_Del	DEL	ATAA	ATAA	-			TCGA-DU-A6S7-01A-21D-A32B-08	TCGA-DU-A6S7-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	952ca0aa-58ee-4267-9db2-6d27b3ad9012	a8b2c3a7-4dbd-4560-a1fc-0bf14103bf7e	g.chrX:76814303_76814306delATAA	ENST00000373344.5	-	29	6552_6555	c.6338_6341delTTAT	c.(6337-6342)tttatcfs	p.FI2113fs	ATRX_ENST00000395603.3_Frame_Shift_Del_p.FI2075fs|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	2113	Helicase C-terminal.				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.F2113fs*9(1)|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)	AGTAGAAATGATAAATAATCGTCC	0.289			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						14	25	---	---	---	---						-	76814306	ATAA	-	76814303	7	5	140	1	0	1	0	1	0	0	0	0	1206	333	12	0	1165	0	ATRX	23	76814303	Frame_Shift_Del	DEL	ATAA	TCGA-DU-A6S7-01A-21D-A32B-08	6031057	76814303	78456257	38	22094											
GPRASP1	9737	broad.mit.edu	37	X	101911243	101911243	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-A6S7-01A-21D-A32B-08	TCGA-DU-A6S7-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	952ca0aa-58ee-4267-9db2-6d27b3ad9012	a8b2c3a7-4dbd-4560-a1fc-0bf14103bf7e	g.chrX:101911243A>G	ENST00000537097.1	+	6	3215	c.2402A>G	c.(2401-2403)gAc>gGc	p.D801G	RP4-769N13.7_ENST00000602441.1_RNA|GPRASP1_ENST00000444152.1_Missense_Mutation_p.D801G|GPRASP1_ENST00000361600.5_Missense_Mutation_p.D801G|GPRASP1_ENST00000415986.1_Missense_Mutation_p.D801G	NM_001184727.1	NP_001171656.1	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting protein 1	801	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						AGAGAAGAAGACAGGCTAGCA	0.527													6	125					0	0	1	0	0	G	101911243	A	G	101911243	3	3	140	1	0	0	0	0	1	0	0	0	6763	275	10	3	2404	3	GPRASP1	23	101911243	Missense_Mutation	SNP	A	TCGA-DU-A6S7-01A-21D-A32B-08	25096940	101911243	53359317	39	22095											
ACTRT2	140625	broad.mit.edu	37	1	2938806	2938806	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A6S8-01A-12D-A32B-08	TCGA-DU-A6S8-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c643556f-5d54-4821-b2c1-af7b5ff789d6	e33db528-eb1b-4812-9956-03280bb3bd0c	g.chr1:2938806G>A	ENST00000378404.2	+	1	761	c.556G>A	c.(556-558)Ggc>Agc	p.G186S		NM_080431.4	NP_536356.3	Q8TDY3	ACTT2_HUMAN	actin-related protein T2	186						cytoplasm|cytoskeleton				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909)	all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125)		CCACGTGGCGGGCAGGGACAT	0.637													6	20					0	0	1	0	0	A	2938806	G	A	2938806	3	1	141	1	0	0	0	0	1	0	0	0	218	1232	43	2	558	2	ACTRT2	1	2938806	Missense_Mutation	SNP	G	TCGA-DU-A6S8-01A-12D-A32B-08		2938806	246311815	1	22096											
ASPM	259266	broad.mit.edu	37	1	197070715	197070715	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A6S8-01A-12D-A32B-08	TCGA-DU-A6S8-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c643556f-5d54-4821-b2c1-af7b5ff789d6	e33db528-eb1b-4812-9956-03280bb3bd0c	g.chr1:197070715C>T	ENST00000367409.4	-	18	7922	c.7666G>A	c.(7666-7668)Gct>Act	p.A2556T	ASPM_ENST00000294732.7_Intron|ASPM_ENST00000367408.1_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	2556	IQ 27.				mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						ACGATAGAAGCTTTGTGTTTT	0.348													20	53					0	0	1	0	0	T	197070715	C	T	197070715	3	4	141	1	0	0	0	0	1	0	0	0	1055	797	28	2	2811	2	ASPM	1	197070715	Missense_Mutation	SNP	C	TCGA-DU-A6S8-01A-12D-A32B-08	194131909	197070715	52179906	2	22097											
KMO	8564	broad.mit.edu	37	1	241731922	241731922	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A6S8-01A-12D-A32B-08	TCGA-DU-A6S8-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c643556f-5d54-4821-b2c1-af7b5ff789d6	e33db528-eb1b-4812-9956-03280bb3bd0c	g.chr1:241731922C>T	ENST00000366559.4	+	10	1243	c.932C>T	c.(931-933)cCg>cTg	p.P311L	KMO_ENST00000366558.3_Missense_Mutation_p.P311L|KMO_ENST00000366557.4_Missense_Mutation_p.P311L	NM_003679.4	NP_003670.2	O15229	KMO_HUMAN	kynurenine 3-monooxygenase (kynurenine 3-hydroxylase)	311					pyridine nucleotide biosynthetic process|response to salt stress	cytosol|integral to membrane|mitochondrial outer membrane	electron carrier activity|flavin adenine dinucleotide binding|kynurenine 3-monooxygenase activity|NAD(P)H oxidase activity			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)	33	Ovarian(103;0.103)|all_lung(81;0.23)		OV - Ovarian serous cystadenocarcinoma(106;0.0176)			GCTATAGTGCCGTTTTTTGGG	0.433													28	31					0	0	1	0	0	T	241731922	C	T	241731922	3	4	141	1	0	0	0	0	1	0	0	0	8467	652	23	1	970	1	KMO	1	241731922	Missense_Mutation	SNP	C	TCGA-DU-A6S8-01A-12D-A32B-08	44661207	241731922	7518699	3	22098											
ERCC3	2071	broad.mit.edu	37	2	128030454	128030454	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DU-A6S8-01A-12D-A32B-08	TCGA-DU-A6S8-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c643556f-5d54-4821-b2c1-af7b5ff789d6	e33db528-eb1b-4812-9956-03280bb3bd0c	g.chr2:128030454delA	ENST00000493187.2	-	11	2085	c.1622delT	c.(1621-1623)atcfs	p.I541fs	ERCC3_ENST00000285398.2_Frame_Shift_Del_p.I605fs			P19447	ERCC3_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 3	605					cell cycle checkpoint|DNA topological change|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA duplex unwinding|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein localization|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	3'-5' DNA helicase activity|ATP binding|damaged DNA binding|protein C-terminus binding|protein N-terminus binding|transcription factor binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	31	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.073)		GGATATGAAGATGGTGTTAAT	0.483			"Mis, S"			"skin basal cell, skin squamous cell, melanoma"		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				36	66	---	---	---	---						-	128030454	A	-	128030454	7	5	141	1	0	1	0	1	0	0	0	0	5242	333	12	0	554	0	ERCC3	2	128030454	Frame_Shift_Del	DEL	A	TCGA-DU-A6S8-01A-12D-A32B-08		128030454	115168919	4	22099											
TBR1	10716	broad.mit.edu	37	2	162273034	162273034	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-A6S8-01A-12D-A32B-08	TCGA-DU-A6S8-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c643556f-5d54-4821-b2c1-af7b5ff789d6	e33db528-eb1b-4812-9956-03280bb3bd0c	g.chr2:162273034C>G	ENST00000389554.3	+	1	430	c.113C>G	c.(112-114)cCc>cGc	p.P38R		NM_006593.2	NP_006584.1	Q16650	TBR1_HUMAN	T-box, brain, 1	38						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(3)	30						CACGATCATCCCATTATCTCG	0.463													26	40					0	0	1	0	0	G	162273034	C	G	162273034	3	3	141	1	0	0	0	0	1	0	0	0	15707	623	22	5	115	5	TBR1	2	162273034	Missense_Mutation	SNP	C	TCGA-DU-A6S8-01A-12D-A32B-08	34242580	162273034	80926339	5	22100											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-DU-A6S8-01A-12D-A32B-08	TCGA-DU-A6S8-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c643556f-5d54-4821-b2c1-af7b5ff789d6	e33db528-eb1b-4812-9956-03280bb3bd0c	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								26	32					0	0	1	0	0	T	209113112	C	T	209113112	3	4	141	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-DU-A6S8-01A-12D-A32B-08	46840078	209113112	34086261	6	22101											
LANCL1	10314	broad.mit.edu	37	2	211302538	211302538	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-A6S8-01A-12D-A32B-08	TCGA-DU-A6S8-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c643556f-5d54-4821-b2c1-af7b5ff789d6	e33db528-eb1b-4812-9956-03280bb3bd0c	g.chr2:211302538T>C	ENST00000443314.1	-	6	1091	c.749A>G	c.(748-750)tAc>tGc	p.Y250C	LANCL1_ENST00000441020.3_Missense_Mutation_p.Y250C|LANCL1_ENST00000450366.2_Missense_Mutation_p.Y250C|AC007970.1_ENST00000420418.1_RNA|AC007970.1_ENST00000433296.1_RNA|LANCL1_ENST00000233714.4_Missense_Mutation_p.Y250C|LANCL1_ENST00000431941.2_Missense_Mutation_p.Y250C			O43813	LANC1_HUMAN	LanC lantibiotic synthetase component C-like 1 (bacterial)	250						cytoplasm|integral to plasma membrane|microtubule cytoskeleton|nucleus	catalytic activity|G-protein coupled receptor activity|glutathione binding|low-density lipoprotein particle receptor binding|SH3 domain binding|zinc ion binding			breast(1)|large_intestine(5)|liver(1)|lung(4)|prostate(1)	12				Epithelial(149;0.00562)|Lung(261;0.0468)|LUSC - Lung squamous cell carcinoma(261;0.0495)|all cancers(144;0.0569)		CTGGCAGACGTAGTCTACACT	0.463													5	56					0	0	1	0	0	C	211302538	T	C	211302538	3	2	141	1	0	0	0	0	1	0	0	0	8659	1638	57	3	466	3	LANCL1	2	211302538	Missense_Mutation	SNP	T	TCGA-DU-A6S8-01A-12D-A32B-08	2189426	211302538	31896835	7	22102											
STK36	27148	broad.mit.edu	37	2	219557982	219557982	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-A6S8-01A-12D-A32B-08	TCGA-DU-A6S8-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c643556f-5d54-4821-b2c1-af7b5ff789d6	e33db528-eb1b-4812-9956-03280bb3bd0c	g.chr2:219557982A>G	ENST00000295709.3	+	17	2342	c.2063A>G	c.(2062-2064)aAt>aGt	p.N688S	STK36_ENST00000392106.2_Missense_Mutation_p.N688S|STK36_ENST00000440309.1_Missense_Mutation_p.N688S|STK36_ENST00000392105.3_Missense_Mutation_p.N688S	NM_015690.4	NP_056505.2	Q9NRP7	STK36_HUMAN	serine/threonine kinase 36	688					cilium assembly|positive regulation of hh target transcription factor activity|positive regulation of smoothened signaling pathway|post-embryonic development	aggresome|cytoplasm|focal adhesion|intermediate filament cytoskeleton|nucleus	ATP binding|protein serine/threonine kinase activity|transcription factor binding			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(20)|ovary(4)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	52		Renal(207;0.0915)		Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984)		CATTTGGCAAATCAGCTAACT	0.478													5	46					0	0	1	0	0	G	219557982	A	G	219557982	3	3	141	1	0	0	0	0	1	0	0	0	15358	101	4	3	2125	3	STK36	2	219557982	Missense_Mutation	SNP	A	TCGA-DU-A6S8-01A-12D-A32B-08	8255444	219557982	23641391	8	22103											
PLD1	5337	broad.mit.edu	37	3	171455389	171455389	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A6S8-01A-12D-A32B-08	TCGA-DU-A6S8-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c643556f-5d54-4821-b2c1-af7b5ff789d6	e33db528-eb1b-4812-9956-03280bb3bd0c	g.chr3:171455389G>A	ENST00000356327.5	-	3	291	c.221C>T	c.(220-222)aCg>aTg	p.T74M	PLD1_ENST00000351298.4_Missense_Mutation_p.T74M|PLD1_ENST00000340989.4_Missense_Mutation_p.T74M|PLD1_ENST00000342215.6_Missense_Mutation_p.T74M	NM_001130081.2	NP_001123553.1	Q13393	PLD1_HUMAN	phospholipase D1, phosphatidylcholine-specific	74					cell communication|chemotaxis|Ras protein signal transduction	endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity	p.T74M(1)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	GGAGAGATACGTCTGTATATT	0.358													30	23					0	0	1	0	0	A	171455389	G	A	171455389	3	1	141	1	0	0	0	0	1	0	0	0	12093	1145	40	1	3103	1	PLD1	3	171455389	Missense_Mutation	SNP	G	TCGA-DU-A6S8-01A-12D-A32B-08		171455389	26567041	9	22104											
GK2	2712	broad.mit.edu	37	4	80327935	80327935	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-A6S8-01A-12D-A32B-08	TCGA-DU-A6S8-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c643556f-5d54-4821-b2c1-af7b5ff789d6	e33db528-eb1b-4812-9956-03280bb3bd0c	g.chr4:80327935G>T	ENST00000358842.3	-	1	1437	c.1420C>A	c.(1420-1422)Ctt>Att	p.L474I		NM_033214.2	NP_149991.2	Q14410	GLPK2_HUMAN	glycerol kinase 2	474					glycerol-3-phosphate metabolic process	mitochondrial outer membrane	ATP binding|glycerol kinase activity			autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	39						TGGGGTTCAAGGCTCCAAACG	0.478													3	55					0.004672	0.00480361	1	1	0	T	80327935	G	T	80327935	3	4	141	1	0	0	0	0	1	0	0	0	6463	1000	35	4	245	4	GK2	4	80327935	Missense_Mutation	SNP	G	TCGA-DU-A6S8-01A-12D-A32B-08		80327935	110826341	10	22105											
TRIM2	23321	broad.mit.edu	37	4	154216540	154216540	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A6S8-01A-12D-A32B-08	TCGA-DU-A6S8-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c643556f-5d54-4821-b2c1-af7b5ff789d6	e33db528-eb1b-4812-9956-03280bb3bd0c	g.chr4:154216540G>A	ENST00000338700.5	+	6	927	c.862G>A	c.(862-864)Gcc>Acc	p.A288T	TRIM2_ENST00000494872.1_3'UTR|TRIM2_ENST00000437508.2_Missense_Mutation_p.A261T	NM_015271.3	NP_056086.2	Q9C040	TRIM2_HUMAN	tripartite motif containing 2	261						cytoplasm	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)	19	all_hematologic(180;0.093)	Medulloblastoma(177;0.00225)		GBM - Glioblastoma multiforme(119;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0703)		CACAGCGCAGGCCCTCAACCA	0.617													10	2					0	0	1	0	0	A	154216540	G	A	154216540	3	1	141	1	0	0	0	0	1	0	0	0	16555	1203	42	2	884	2	TRIM2	4	154216540	Missense_Mutation	SNP	G	TCGA-DU-A6S8-01A-12D-A32B-08	73888605	154216540	36937736	11	22106											
KIAA0319	9856	broad.mit.edu	37	6	24559320	24559320	+	Silent	SNP	C	C	T			TCGA-DU-A6S8-01A-12D-A32B-08	TCGA-DU-A6S8-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c643556f-5d54-4821-b2c1-af7b5ff789d6	e33db528-eb1b-4812-9956-03280bb3bd0c	g.chr6:24559320C>T	ENST00000535378.1	-	18	3270	c.2628G>A	c.(2626-2628)gtG>gtA	p.V876V	KIAA0319_ENST00000430948.2_Silent_p.V840V|KIAA0319_ENST00000543707.1_Silent_p.V885V|KIAA0319_ENST00000378214.3_Silent_p.V885V|KIAA0319_ENST00000537886.1_Silent_p.V885V	NM_001168374.1	NP_001161846.1	Q5VV43	K0319_HUMAN	KIAA0319	885					negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding			breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						GATTTCGGGCCACTTCAGCAG	0.493													8	21					0	0	1	0	0	T	24559320	C	T	24559320	2	4	141	1	0	0	0	0	0	0	0	1	8210	581	21	2		2	KIAA0319	6	24559320	Silent	SNP	C	TCGA-DU-A6S8-01A-12D-A32B-08		24559320	146555747	12	22107											
HIST1H2BC	8347	broad.mit.edu	37	6	26124122	26124122	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A6S8-01A-12D-A32B-08	TCGA-DU-A6S8-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c643556f-5d54-4821-b2c1-af7b5ff789d6	e33db528-eb1b-4812-9956-03280bb3bd0c	g.chr6:26124122G>A	ENST00000314332.5	-	1	16	c.11C>T	c.(10-12)cCa>cTa	p.P4L	HIST1H2BC_ENST00000396984.1_Missense_Mutation_p.P4L			P62807	H2B1C_HUMAN	histone cluster 1, H2bc	4					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding			NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)	16						AGACTTGGCTGGCTCAGGCAT	0.507													8	102					0	0	1	0	0	A	26124122	G	A	26124122	3	1	141	1	0	0	0	0	1	0	0	0	7183	1348	47	2	373	2	HIST1H2BC	6	26124122	Missense_Mutation	SNP	G	TCGA-DU-A6S8-01A-12D-A32B-08	1564802	26124122	144990945	13	22108											
C7orf10	79783	broad.mit.edu	37	7	40535964	40535964	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-A6S8-01A-12D-A32B-08	TCGA-DU-A6S8-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c643556f-5d54-4821-b2c1-af7b5ff789d6	e33db528-eb1b-4812-9956-03280bb3bd0c	g.chr7:40535964G>C	ENST00000309930.5	+	12	1113	c.1089G>C	c.(1087-1089)aaG>aaC	p.K363N	C7orf10_ENST00000335693.4_Missense_Mutation_p.K363N|C7orf10_ENST00000401647.2_Missense_Mutation_p.K315N	NM_001193311.1|NM_024728.2	NP_001180240.1|NP_079004.1	Q9HAC7	CG010_HUMAN	chromosome 7 open reading frame 10	363							transferase activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)	18						ACAACATGAAGAATGTATTTG	0.403													8	7					0	0	1	0	0	C	40535964	G	C	40535964	3	2	141	1	0	0	0	0	1	0	0	0	2392	933	33	4	1024	4	C7orf10	7	40535964	Missense_Mutation	SNP	G	TCGA-DU-A6S8-01A-12D-A32B-08		40535964	118602699	14	22109											
TAS2R16	50833	broad.mit.edu	37	7	122635560	122635560	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A6S8-01A-12D-A32B-08	TCGA-DU-A6S8-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c643556f-5d54-4821-b2c1-af7b5ff789d6	e33db528-eb1b-4812-9956-03280bb3bd0c	g.chr7:122635560C>T	ENST00000249284.2	-	1	194	c.129G>A	c.(127-129)atG>atA	p.M43I		NM_016945.2	NP_058641.1	Q9NYV7	T2R16_HUMAN	taste receptor, type 2, member 16	43					detection of chemical stimulus involved in sensory perception of bitter taste	endoplasmic reticulum|external side of plasma membrane|trans-Golgi network	bitter taste receptor activity|protein binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						TGTCCACAGGCATCAGCCTTC	0.443													17	33					0	0	1	0	0	T	122635560	C	T	122635560	3	4	141	1	0	0	0	0	1	0	0	0	15626	710	25	2	750	2	TAS2R16	7	122635560	Missense_Mutation	SNP	C	TCGA-DU-A6S8-01A-12D-A32B-08	82099596	122635560	36503103	15	22110											
MYOM2	9172	broad.mit.edu	37	8	2037956	2037956	+	Silent	SNP	G	G	A	rs146528852		TCGA-DU-A6S8-01A-12D-A32B-08	TCGA-DU-A6S8-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c643556f-5d54-4821-b2c1-af7b5ff789d6	e33db528-eb1b-4812-9956-03280bb3bd0c	g.chr8:2037956G>A	ENST00000262113.4	+	15	1911	c.1770G>A	c.(1768-1770)cgG>cgA	p.R590R	MYOM2_ENST00000523438.1_Silent_p.R15R	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	590	Fibronectin type-III 2.				muscle contraction	myosin filament	structural constituent of muscle			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		CAGCAAACCGGCATGGCCTGA	0.572													3	36					0	0	1	0	0	A	2037956	G	A	2037956	2	1	141	1	0	0	0	0	0	0	0	1	10140	1190	42	2		2	MYOM2	8	2037956	Silent	SNP	G	TCGA-DU-A6S8-01A-12D-A32B-08		2037956	144326066	16	22111											
ADAMTSL1	92949	broad.mit.edu	37	9	18826274	18826274	+	Frame_Shift_Del	DEL	C	C	-	rs80308610		TCGA-DU-A6S8-01A-12D-A32B-08	TCGA-DU-A6S8-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c643556f-5d54-4821-b2c1-af7b5ff789d6	e33db528-eb1b-4812-9956-03280bb3bd0c	g.chr9:18826274delC	ENST00000380545.5	+	1	139	c.30delC	c.(28-30)ttcfs	p.F11fs	ADAMTSL1_ENST00000380548.4_Intron			Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	0						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		TTTTTTTTTTCTTCCTAGGAG	0.488													2	4	---	---	---	---						-	18826274	C	-	18826274	7	5	141	1	0	1	0	1	0	0	0	0	273	928	32	0		0	ADAMTSL1	9	18826274	Frame_Shift_Del	DEL	C	TCGA-DU-A6S8-01A-12D-A32B-08		18826274	122387157	17	22112											
TAF1L	138474	broad.mit.edu	37	9	32633529	32633529	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DU-A6S8-01A-12D-A32B-08	TCGA-DU-A6S8-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c643556f-5d54-4821-b2c1-af7b5ff789d6	e33db528-eb1b-4812-9956-03280bb3bd0c	g.chr9:32633529delA	ENST00000242310.4	-	1	2138	c.2049delT	c.(2047-2049)tttfs	p.F683fs	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	683					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		GTGTGCGCATAAAAAACAACT	0.453													63	38	---	---	---	---						-	32633529	A	-	32633529	7	5	141	1	0	1	0	1	0	0	0	0	15580	359	13	0	3435	0	TAF1L	9	32633529	Frame_Shift_Del	DEL	A	TCGA-DU-A6S8-01A-12D-A32B-08	13807255	32633529	108579902	18	22113											
ST8SIA6	338596	broad.mit.edu	37	10	17362896	17362896	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A6S8-01A-12D-A32B-08	TCGA-DU-A6S8-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c643556f-5d54-4821-b2c1-af7b5ff789d6	e33db528-eb1b-4812-9956-03280bb3bd0c	g.chr10:17362896C>T	ENST00000377602.4	-	8	1252	c.1178G>A	c.(1177-1179)aGc>aAc	p.S393N		NM_001004470.1	NP_001004470.1	P61647	SIA8F_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6	393					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			endometrium(3)|kidney(3)|large_intestine(4)|liver(1)|lung(24)|ovary(1)|skin(1)	37						TTCACATTTGCTAAATTGCAG	0.378													92	130					0	0	1	0	0	T	17362896	C	T	17362896	3	4	141	1	0	0	0	0	1	0	0	0	15292	797	28	2	22	2	ST8SIA6	10	17362896	Missense_Mutation	SNP	C	TCGA-DU-A6S8-01A-12D-A32B-08		17362896	118171851	19	22114											
A1CF	29974	broad.mit.edu	37	10	52573649	52573649	+	Silent	SNP	A	A	G			TCGA-DU-A6S8-01A-12D-A32B-08	TCGA-DU-A6S8-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c643556f-5d54-4821-b2c1-af7b5ff789d6	e33db528-eb1b-4812-9956-03280bb3bd0c	g.chr10:52573649A>G	ENST00000374001.2	-	9	1430	c.1291T>C	c.(1291-1293)Tta>Cta	p.L431L	A1CF_ENST00000395495.1_Silent_p.L384L|ASAH2B_ENST00000483649.1_Intron|A1CF_ENST00000373997.3_Silent_p.L431L|A1CF_ENST00000373993.1_Silent_p.L439L|A1CF_ENST00000395489.2_Silent_p.L432L|A1CF_ENST00000373995.3_Silent_p.L439L|A1CF_ENST00000282641.2_Silent_p.L439L|A1CF_ENST00000493415.1_5'UTR			Q9NQ94	A1CF_HUMAN	APOBEC1 complementation factor						cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						TGGGGTTTTAATGTGACAGGA	0.418													17	117					0	0	1	0	0	G	52573649	A	G	52573649	2	3	141	1	0	0	0	0	0	0	0	1	2	98	4	3		3	A1CF	10	52573649	Silent	SNP	A	TCGA-DU-A6S8-01A-12D-A32B-08	35210753	52573649	82961098	20	22115											
IFIT5	24138	broad.mit.edu	37	10	91178247	91178247	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-A6S8-01A-12D-A32B-08	TCGA-DU-A6S8-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c643556f-5d54-4821-b2c1-af7b5ff789d6	e33db528-eb1b-4812-9956-03280bb3bd0c	g.chr10:91178247A>G	ENST00000371795.4	+	2	1504	c.1291A>G	c.(1291-1293)Aat>Gat	p.N431D	IFIT5_ENST00000416601.1_Missense_Mutation_p.N383D	NM_012420.2	NP_036552.1	Q13325	IFIT5_HUMAN	interferon-induced protein with tetratricopeptide repeats 5	431							binding			endometrium(1)|large_intestine(4)|lung(4)	9						ACTTTGTCACAATGCTTTAGA	0.423													21	72					0	0	1	0	0	G	91178247	A	G	91178247	3	3	141	1	0	0	0	0	1	0	0	0	7569	130	5	3	1297	3	IFIT5	10	91178247	Missense_Mutation	SNP	A	TCGA-DU-A6S8-01A-12D-A32B-08	38604598	91178247	44356500	21	22116											
TNKS2	80351	broad.mit.edu	37	10	93590720	93590720	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-A6S8-01A-12D-A32B-08	TCGA-DU-A6S8-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c643556f-5d54-4821-b2c1-af7b5ff789d6	e33db528-eb1b-4812-9956-03280bb3bd0c	g.chr10:93590720T>C	ENST00000371627.4	+	10	1524	c.1145T>C	c.(1144-1146)aTa>aCa	p.I382T		NM_025235.3	NP_079511.1	Q9H2K2	TNKS2_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 2	382					positive regulation of canonical Wnt receptor signaling pathway|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein polyubiquitination|Wnt receptor signaling pathway	Golgi membrane|microsome|nuclear envelope|pericentriolar material|perinuclear region of cytoplasm	NAD+ ADP-ribosyltransferase activity|protein binding			biliary_tract(1)|breast(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	48		Colorectal(252;0.162)				AGAAAGCAAATATGTGAACTG	0.294													4	29					0	0	1	0	0	C	93590720	T	C	93590720	3	2	141	1	0	0	0	0	1	0	0	0	16381	1406	49	3	1183	3	TNKS2	10	93590720	Missense_Mutation	SNP	T	TCGA-DU-A6S8-01A-12D-A32B-08	2412473	93590720	41944027	22	22117											
ADRA2A	150	broad.mit.edu	37	10	112839099	112839099	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A6S8-01A-12D-A32B-08	TCGA-DU-A6S8-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c643556f-5d54-4821-b2c1-af7b5ff789d6	e33db528-eb1b-4812-9956-03280bb3bd0c	g.chr10:112839099C>T	ENST00000280155.2	+	1	2310	c.1345C>T	c.(1345-1347)Cgc>Tgc	p.R449C		NM_000681.3	NP_000672.3	P08913	ADA2A_HUMAN	adrenoceptor alpha 2A	434					actin cytoskeleton organization|activation of MAPK activity by adrenergic receptor signaling pathway|activation of phospholipase C activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cellular component movement|cellular response to hormone stimulus|energy reserve metabolic process|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|glucose homeostasis|inhibition of adenylate cyclase activity by adrenergic receptor signaling pathway|intestinal absorption|negative regulation of adrenergic receptor signaling pathway|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cAMP biosynthetic process|negative regulation of epinephrine secretion|negative regulation of insulin secretion involved in cellular response to glucose stimulus|negative regulation of lipid catabolic process|negative regulation of norepinephrine secretion|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of cytokine production|positive regulation of membrane protein ectodomain proteolysis|positive regulation of potassium ion transport|positive regulation of wound healing|Rho protein signal transduction	basolateral plasma membrane|cytoplasm|integral to plasma membrane|receptor complex	alpha-1B adrenergic receptor binding|alpha-2C adrenergic receptor binding|alpha2-adrenergic receptor activity|epinephrine binding|heterotrimeric G-protein binding|norepinephrine binding|protein heterodimerization activity|protein homodimerization activity|protein kinase binding|thioesterase binding			breast(1)|cervix(3)|endometrium(6)|large_intestine(3)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(234;0.0735)|Lung NSC(174;0.238)		Epithelial(162;0.000316)|all cancers(201;0.00501)|BRCA - Breast invasive adenocarcinoma(275;0.118)	Amitriptyline(DB00321)|Amphetamine(DB00182)|Apraclonidine(DB00964)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Brimonidine(DB00484)|Clonidine(DB00575)|Debrisoquin(DB04840)|Dexmedetomidine(DB00633)|Dipivefrin(DB00449)|Epinastine(DB00751)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Guanabenz(DB00629)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Guanfacine(DB01018)|Lofexidine(DB04948)|Methyldopa(DB00968)|Mianserin(DB06148)|Mirtazapine(DB00370)|Norepinephrine(DB00368)|Oxymetazoline(DB00935)|Phentolamine(DB00692)|Phenylpropanolamine(DB00397)|Pseudoephedrine(DB00852)|Tizanidine(DB00697)|Trazodone(DB00656)|Yohimbine(DB01392)	CCACGATTTCCGCCGCGCCTT	0.592													19	88					0	0	1	0	0	T	112839099	C	T	112839099	3	4	141	1	0	0	0	0	1	0	0	0	336	652	23	1	1347	1	ADRA2A	10	112839099	Missense_Mutation	SNP	C	TCGA-DU-A6S8-01A-12D-A32B-08	19248379	112839099	22695648	23	22118											
PKP3	11187	broad.mit.edu	37	11	399104	399104	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-A6S8-01A-12D-A32B-08	TCGA-DU-A6S8-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c643556f-5d54-4821-b2c1-af7b5ff789d6	e33db528-eb1b-4812-9956-03280bb3bd0c	g.chr11:399104A>G	ENST00000331563.2	+	5	1257	c.1181A>G	c.(1180-1182)gAc>gGc	p.D394G		NM_007183.2	NP_009114.1	Q9Y446	PKP3_HUMAN	plakophilin 3	394					cell adhesion	desmosome|nucleus	binding			breast(1)|central_nervous_system(1)|endometrium(3)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GACAACGCTGACAACAAGCTG	0.597													6	36					0	0	1	0	0	G	399104	A	G	399104	3	3	141	1	0	0	0	0	1	0	0	0	12034	275	10	3	1199	3	PKP3	11	399104	Missense_Mutation	SNP	A	TCGA-DU-A6S8-01A-12D-A32B-08		399104	134607412	24	22119											
C11orf16	56673	broad.mit.edu	37	11	8947615	8947615	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A6S8-01A-12D-A32B-08	TCGA-DU-A6S8-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c643556f-5d54-4821-b2c1-af7b5ff789d6	e33db528-eb1b-4812-9956-03280bb3bd0c	g.chr11:8947615C>T	ENST00000326053.5	-	5	705	c.599G>A	c.(598-600)gGc>gAc	p.G200D	C11orf16_ENST00000525780.1_Missense_Mutation_p.G200D	NM_020643.2	NP_065694.2	Q9NQ32	CK016_HUMAN	chromosome 11 open reading frame 16	200										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	22				Epithelial(150;4.11e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0234)		AGCAGCTTTGCCATTCCAGAA	0.428													4	111					0	0	1	0	0	T	8947615	C	T	8947615	3	4	141	1	0	0	0	0	1	0	0	0	1635	739	26	2	812	2	C11orf16	11	8947615	Missense_Mutation	SNP	C	TCGA-DU-A6S8-01A-12D-A32B-08	8548511	8947615	126058901	25	22120											
CKAP5	9793	broad.mit.edu	37	11	46782334	46782334	+	Splice_Site	SNP	G	G	A			TCGA-DU-A6S8-01A-12D-A32B-08	TCGA-DU-A6S8-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c643556f-5d54-4821-b2c1-af7b5ff789d6	e33db528-eb1b-4812-9956-03280bb3bd0c	g.chr11:46782334G>A	ENST00000529230.1	-	33	4268	c.4222C>T	c.(4222-4224)Ctt>Ttt	p.L1408F	CKAP5_ENST00000312055.5_Splice_Site_p.L1408F|CKAP5_ENST00000415402.1_Splice_Site_p.L1408F|CKAP5_ENST00000354558.3_Splice_Site_p.L1408F			Q14008	CKAP5_HUMAN	cytoskeleton associated protein 5	1408					cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization	centrosome|cytosol	protein binding			breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						TTTTCAGAAAGCTGTAAAGAG	0.388													7	43					0	0	1	0	0	A	46782334	G	A	46782334	5	1	141	1	0	0	0	0	0	0	1	0	3468	985	34	2	1924	2	CKAP5	11	46782334	Splice_Site	SNP	G	TCGA-DU-A6S8-01A-12D-A32B-08	37834719	46782334	88224182	26	22121											
ANO1	55107	broad.mit.edu	37	11	70013431	70013431	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A6S8-01A-12D-A32B-08	TCGA-DU-A6S8-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c643556f-5d54-4821-b2c1-af7b5ff789d6	e33db528-eb1b-4812-9956-03280bb3bd0c	g.chr11:70013431G>A	ENST00000355303.5	+	21	2440	c.2135G>A	c.(2134-2136)cGg>cAg	p.R712Q	ANO1_ENST00000530676.1_Missense_Mutation_p.R566Q|ANO1_ENST00000398543.2_Missense_Mutation_p.R566Q|ANO1_ENST00000531349.1_Missense_Mutation_p.R421Q|ANO1_ENST00000538023.1_Missense_Mutation_p.R712Q	NM_018043.5	NP_060513.5	Q5XXA6	ANO1_HUMAN	anoctamin 1, calcium activated chloride channel	712					multicellular organismal development	chloride channel complex|cytoplasm|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29						AGGAAACAGCGGTACGAGGTG	0.562													6	22					0	0	1	0	0	A	70013431	G	A	70013431	3	1	141	1	0	0	0	0	1	0	0	0	689	1116	39	1	2217	1	ANO1	11	70013431	Missense_Mutation	SNP	G	TCGA-DU-A6S8-01A-12D-A32B-08	23231097	70013431	64993085	27	22122											
FOLH1B	219595	broad.mit.edu	37	11	89421732	89421734	+	RNA	DEL	TGT	TGT	-			TCGA-DU-A6S8-01A-12D-A32B-08	TCGA-DU-A6S8-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c643556f-5d54-4821-b2c1-af7b5ff789d6	e33db528-eb1b-4812-9956-03280bb3bd0c	g.chr11:89421732_89421734delTGT	ENST00000532352.1	+	0	1421							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B						proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						GAAATAATTCTGTTGTTTTATCT	0.315													25	65	---	---	---	---						-	89421734	TGT	-	89421732	6	5	141	0	1	1	0	1	0	0	0	0	6013	1595	55	0		0	FOLH1B	11	89421732	RNA	DEL	TGT	TCGA-DU-A6S8-01A-12D-A32B-08	19408301	89421732	45584784	28	22123											
PDE3A	5139	broad.mit.edu	37	12	20783011	20783011	+	Silent	SNP	T	T	C			TCGA-DU-A6S8-01A-12D-A32B-08	TCGA-DU-A6S8-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c643556f-5d54-4821-b2c1-af7b5ff789d6	e33db528-eb1b-4812-9956-03280bb3bd0c	g.chr12:20783011T>C	ENST00000359062.3	+	6	1750	c.1710T>C	c.(1708-1710)agT>agC	p.S570S	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	570					lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	ACACTCAGAGTGCCCCAGACC	0.423													39	139					0	0	1	0	0	C	20783011	T	C	20783011	2	2	141	1	0	0	0	0	0	0	0	1	11684	1693	59	3		3	PDE3A	12	20783011	Silent	SNP	T	TCGA-DU-A6S8-01A-12D-A32B-08		20783011	113068884	29	22124											
LRP1	4035	broad.mit.edu	37	12	57596983	57596986	+	Frame_Shift_Del	DEL	GAGT	GAGT	-			TCGA-DU-A6S8-01A-12D-A32B-08	TCGA-DU-A6S8-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c643556f-5d54-4821-b2c1-af7b5ff789d6	e33db528-eb1b-4812-9956-03280bb3bd0c	g.chr12:57596983_57596986delGAGT	ENST00000243077.3	+	69	11197_11200	c.10731_10734delGAGT	c.(10729-10734)gagagtfs	p.ES3577fs		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	3577	LDL-receptor class A 27.				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CCTGCTCCGAGAGTGAGTTCTCCT	0.676													4	7	---	---	---	---						-	57596986	GAGT	-	57596983	7	5	141	1	0	1	0	1	0	0	0	0	8996	933	33	0	11005	0	LRP1	12	57596983	Frame_Shift_Del	DEL	GAGT	TCGA-DU-A6S8-01A-12D-A32B-08	36813972	57596983	76254912	30	22125											
IGF1	3479	broad.mit.edu	37	12	102813295	102813295	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-A6S8-01A-12D-A32B-08	TCGA-DU-A6S8-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c643556f-5d54-4821-b2c1-af7b5ff789d6	e33db528-eb1b-4812-9956-03280bb3bd0c	g.chr12:102813295T>C	ENST00000456098.1	-	3	612	c.394A>G	c.(394-396)Acc>Gcc	p.T132A	IGF1_ENST00000424202.2_Missense_Mutation_p.T116A|IGF1_ENST00000337514.6_Missense_Mutation_p.T132A|IGF1_ENST00000307046.8_Missense_Mutation_p.T132A|IGF1_ENST00000392904.1_Missense_Mutation_p.T132A	NM_001111283.1	NP_001104753.1	P05019	IGF1_HUMAN	insulin-like growth factor 1 (somatomedin C)	132					anti-apoptosis|bone mineralization involved in bone maturation|cellular component movement|DNA replication|glycolate metabolic process|muscle hypertrophy|myoblast differentiation|myoblast proliferation|myotube cell development|negative regulation of smooth muscle cell apoptosis|phosphatidylinositol-mediated signaling|platelet activation|platelet degranulation|positive regulation of activated T cell proliferation|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|positive regulation of fibroblast proliferation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis|positive regulation of osteoblast differentiation|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of Ras protein signal transduction|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tyrosine phosphorylation of Stat5 protein|Ras protein signal transduction|regulation of multicellular organism growth|satellite cell maintenance involved in skeletal muscle regeneration	platelet alpha granule lumen	growth factor activity|hormone activity|insulin receptor binding|insulin-like growth factor receptor binding|integrin binding			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)	11						ACCTTCTGGGTCTTGGGCATG	0.592													14	21					0	0	1	0	0	C	102813295	T	C	102813295	3	2	141	1	0	0	0	0	1	0	0	0	7614	1667	58	3	265	3	IGF1	12	102813295	Missense_Mutation	SNP	T	TCGA-DU-A6S8-01A-12D-A32B-08	45216312	102813295	31038600	31	22126											
FOXN4	121643	broad.mit.edu	37	12	109719350	109719350	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-A6S8-01A-12D-A32B-08	TCGA-DU-A6S8-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c643556f-5d54-4821-b2c1-af7b5ff789d6	e33db528-eb1b-4812-9956-03280bb3bd0c	g.chr12:109719350C>A	ENST00000299162.5	-	9	1260	c.1156G>T	c.(1156-1158)Gcc>Tcc	p.A386S	FOXN4_ENST00000355216.1_Missense_Mutation_p.A206S	NM_213596.2	NP_998761.2	Q96NZ1	FOXN4_HUMAN	forkhead box N4	386					axon extension|embryo development|organ development|pattern specification process|regulation of heart contraction|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			large_intestine(5)|lung(9)|ovary(2)	16						TCCGGCAGGGCGTGCAGTGGC	0.657													3	11					0.115264	0.115264	1	1	0	A	109719350	C	A	109719350	3	1	141	1	0	0	0	0	1	0	0	0	6056	768	27	5	405	5	FOXN4	12	109719350	Missense_Mutation	SNP	C	TCGA-DU-A6S8-01A-12D-A32B-08	6906055	109719350	24132545	32	22127											
CHD8	57680	broad.mit.edu	37	14	21897261	21897261	+	Silent	SNP	T	T	C			TCGA-DU-A6S8-01A-12D-A32B-08	TCGA-DU-A6S8-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c643556f-5d54-4821-b2c1-af7b5ff789d6	e33db528-eb1b-4812-9956-03280bb3bd0c	g.chr14:21897261T>C	ENST00000399982.2	-	2	1141	c.1077A>G	c.(1075-1077)tcA>tcG	p.S359S	CHD8_ENST00000430710.3_Silent_p.S80S|CHD8_ENST00000557364.1_Silent_p.S359S|CHD8_ENST00000555962.1_Intron	NM_001170629.1	NP_001164100.1	Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	359	Gln-rich.				ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		GTGGCTGCGATGATGGTGGTT	0.557													8	75					0	0	1	0	0	C	21897261	T	C	21897261	2	2	141	1	0	0	0	0	0	0	0	1	3353	1451	51	3		3	CHD8	14	21897261	Silent	SNP	T	TCGA-DU-A6S8-01A-12D-A32B-08		21897261	85452279	33	22128											
ATG2B	55102	broad.mit.edu	37	14	96795934	96795934	+	Nonsense_Mutation	SNP	T	T	A			TCGA-DU-A6S8-01A-12D-A32B-08	TCGA-DU-A6S8-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c643556f-5d54-4821-b2c1-af7b5ff789d6	e33db528-eb1b-4812-9956-03280bb3bd0c	g.chr14:96795934T>A	ENST00000359933.4	-	12	2661	c.1768A>T	c.(1768-1770)Aga>Tga	p.R590*		NM_018036.5	NP_060506	Q96BY7	ATG2B_HUMAN	autophagy related 2B	590										breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		GATCTTTGTCTTTGTTCATAG	0.323													3	66					0	0	1	0	0	A	96795934	T	A	96795934	4	1	141	1	0	0	0	0	0	1	0	0	1093	1617	56	5	4592	5	ATG2B	14	96795934	Nonsense_Mutation	SNP	T	TCGA-DU-A6S8-01A-12D-A32B-08	74898673	96795934	10553606	34	22129											
ACSBG1	23205	broad.mit.edu	37	15	78474344	78474344	+	Silent	SNP	G	G	A			TCGA-DU-A6S8-01A-12D-A32B-08	TCGA-DU-A6S8-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c643556f-5d54-4821-b2c1-af7b5ff789d6	e33db528-eb1b-4812-9956-03280bb3bd0c	g.chr15:78474344G>A	ENST00000258873.4	-	8	1243	c.1038C>T	c.(1036-1038)gcC>gcT	p.A346A	ACSBG1_ENST00000541759.1_Silent_p.A104A|ACSBG1_ENST00000560817.1_Silent_p.A104A	NM_001199377.1|NM_015162.4	NP_001186306.1|NP_055977.3	Q96GR2	ACBG1_HUMAN	acyl-CoA synthetase bubblegum family member 1	346					long-chain fatty acid metabolic process|myelination|very long-chain fatty acid metabolic process	cytoplasmic membrane-bounded vesicle|endoplasmic reticulum|microsome	ATP binding|long-chain fatty acid-CoA ligase activity|very long-chain fatty acid-CoA ligase activity			endometrium(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	37						AGCAAACCTGGGCCCCCCACT	0.627													19	26					0	0	1	0	0	A	78474344	G	A	78474344	2	1	141	1	0	0	0	0	0	0	0	1	173	1219	43	2		2	ACSBG1	15	78474344	Silent	SNP	G	TCGA-DU-A6S8-01A-12D-A32B-08		78474344	24057048	35	22130											
NARFL	64428	broad.mit.edu	37	16	787302	787302	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A6S8-01A-12D-A32B-08	TCGA-DU-A6S8-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c643556f-5d54-4821-b2c1-af7b5ff789d6	e33db528-eb1b-4812-9956-03280bb3bd0c	g.chr16:787302C>T	ENST00000251588.2	-	3	206	c.190G>A	c.(190-192)Gcc>Acc	p.A64T	NARFL_ENST00000540986.1_5'UTR|NARFL_ENST00000301694.5_Missense_Mutation_p.A64T|NARFL_ENST00000568545.1_5'UTR	NM_022493.1	NP_071938.1	Q9H6Q4	NARFL_HUMAN	nuclear prelamin A recognition factor-like	64					iron-sulfur cluster assembly|oxygen homeostasis|regulation of transcription, DNA-dependent|response to hypoxia		4 iron, 4 sulfur cluster binding|metal ion binding			autonomic_ganglia(1)|large_intestine(1)|lung(7)	9		Hepatocellular(780;0.0218)				GAGACCTTGGCCTTCTCCAGC	0.627													31	50					0	0	1	0	0	T	787302	C	T	787302	3	4	141	1	0	0	0	0	1	0	0	0	10216	739	26	2	1276	2	NARFL	16	787302	Missense_Mutation	SNP	C	TCGA-DU-A6S8-01A-12D-A32B-08		787302	89567451	36	22131											
GTF3C1	2975	broad.mit.edu	37	16	27503732	27503733	+	Frame_Shift_Del	DEL	AT	AT	-			TCGA-DU-A6S8-01A-12D-A32B-08	TCGA-DU-A6S8-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c643556f-5d54-4821-b2c1-af7b5ff789d6	e33db528-eb1b-4812-9956-03280bb3bd0c	g.chr16:27503732_27503733delAT	ENST00000356183.4	-	19	3092_3093	c.3077_3078delAT	c.(3076-3078)tatfs	p.Y1026fs	GTF3C1_ENST00000561623.1_Frame_Shift_Del_p.Y1026fs	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	1026						transcription factor TFIIIC complex	DNA binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						AGTTCAGGACATAGAGGCGCCT	0.54													31	57	---	---	---	---						-	27503733	AT	-	27503732	7	5	141	1	0	1	0	1	0	0	0	0	6913	224	8	0	3327	0	GTF3C1	16	27503732	Frame_Shift_Del	DEL	AT	TCGA-DU-A6S8-01A-12D-A32B-08	26716430	27503732	62851021	37	22132											
ABCC11	85320	broad.mit.edu	37	16	48221160	48221160	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-A6S8-01A-12D-A32B-08	TCGA-DU-A6S8-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c643556f-5d54-4821-b2c1-af7b5ff789d6	e33db528-eb1b-4812-9956-03280bb3bd0c	g.chr16:48221160A>G	ENST00000394747.1	-	20	3234	c.2885T>C	c.(2884-2886)aTc>aCc	p.I962T	ABCC11_ENST00000356608.2_Missense_Mutation_p.I962T|ABCC11_ENST00000565329.1_5'UTR|ABCC11_ENST00000394748.1_Missense_Mutation_p.I962T|ABCC11_ENST00000353782.5_Missense_Mutation_p.I962T|ABCC11_ENST00000537808.1_3'UTR	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	962	ABC transmembrane type-1 2.					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)				CATTAACAGGATATATGGAGA	0.468													29	24					0	0	1	0	0	G	48221160	A	G	48221160	3	3	141	1	0	0	0	0	1	0	0	0	51	333	12	3	1303	3	ABCC11	16	48221160	Missense_Mutation	SNP	A	TCGA-DU-A6S8-01A-12D-A32B-08	20717428	48221160	42133593	38	22133											
RTN4RL1	146760	broad.mit.edu	37	17	1840215	1840215	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-A6S8-01A-12D-A32B-08	TCGA-DU-A6S8-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c643556f-5d54-4821-b2c1-af7b5ff789d6	e33db528-eb1b-4812-9956-03280bb3bd0c	g.chr17:1840215A>G	ENST00000331238.6	-	2	1380	c.901T>C	c.(901-903)Ttc>Ctc	p.F301L		NM_178568.2	NP_848663.1	Q86UN2	R4RL1_HUMAN	reticulon 4 receptor-like 1		LRRCT.				axon regeneration	anchored to plasma membrane	receptor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|prostate(2)|skin(1)	11						CAGTTCCGGAAGTCCTCGGCC	0.682													5	11					0	0	1	0	0	G	1840215	A	G	1840215	3	3	141	1	0	0	0	0	1	0	0	0	13783	72	3	3	428	3	RTN4RL1	17	1840215	Missense_Mutation	SNP	A	TCGA-DU-A6S8-01A-12D-A32B-08		1840215	79354995	39	22134											
NUFIP2	57532	broad.mit.edu	37	17	27614074	27614074	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-A6S8-01A-12D-A32B-08	TCGA-DU-A6S8-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c643556f-5d54-4821-b2c1-af7b5ff789d6	e33db528-eb1b-4812-9956-03280bb3bd0c	g.chr17:27614074T>C	ENST00000225388.4	-	2	996	c.938A>G	c.(937-939)aAa>aGa	p.K313R	NUFIP2_ENST00000579665.1_Intron	NM_020772.2	NP_065823.1	Q7Z417	NUFP2_HUMAN	nuclear fragile X mental retardation protein interacting protein 2	313						nucleus|polysomal ribosome	protein binding|RNA binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	24			BRCA - Breast invasive adenocarcinoma(11;0.000457)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551)			ATCAAACTTTTTGCTGCTCAC	0.488													10	113					0	0	1	0	0	C	27614074	T	C	27614074	3	2	141	1	0	0	0	0	1	0	0	0	10797	1841	64	3	1161	3	NUFIP2	17	27614074	Missense_Mutation	SNP	T	TCGA-DU-A6S8-01A-12D-A32B-08	25773859	27614074	53581136	40	22135											
DSG1	1828	broad.mit.edu	37	18	28916444	28916444	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-A6S8-01A-12D-A32B-08	TCGA-DU-A6S8-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c643556f-5d54-4821-b2c1-af7b5ff789d6	e33db528-eb1b-4812-9956-03280bb3bd0c	g.chr18:28916444A>G	ENST00000257192.4	+	9	1345	c.1133A>G	c.(1132-1134)aAt>aGt	p.N378S		NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	378	Cadherin 3.				calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			ACTGTGTTAAATGTAATTGAA	0.363													12	56					0	0	1	0	0	G	28916444	A	G	28916444	3	3	141	1	0	0	0	0	1	0	0	0	4802	101	4	3	1167	3	DSG1	18	28916444	Missense_Mutation	SNP	A	TCGA-DU-A6S8-01A-12D-A32B-08		28916444	49160804	41	22136											
MYO5B	4645	broad.mit.edu	37	18	47367799	47367799	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A6S8-01A-12D-A32B-08	TCGA-DU-A6S8-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c643556f-5d54-4821-b2c1-af7b5ff789d6	e33db528-eb1b-4812-9956-03280bb3bd0c	g.chr18:47367799G>A	ENST00000285039.7	-	35	4936	c.4637C>T	c.(4636-4638)aCg>aTg	p.T1546M	MYO5B_ENST00000592688.1_Missense_Mutation_p.T116M|MYO5B_ENST00000324581.6_Missense_Mutation_p.T661M|SCARNA17_ENST00000589499.1_RNA	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	1546	Dilute.				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		CCAGAATGACGTCATCTCAAA	0.522													38	101					0	0	1	0	0	A	47367799	G	A	47367799	3	1	141	1	0	0	0	0	1	0	0	0	10127	1145	40	1	933	1	MYO5B	18	47367799	Missense_Mutation	SNP	G	TCGA-DU-A6S8-01A-12D-A32B-08	18451355	47367799	30709449	42	22137											
NDUFA7	4701	broad.mit.edu	37	19	8381422	8381424	+	In_Frame_Del	DEL	ATG	ATG	-			TCGA-DU-A6S8-01A-12D-A32B-08	TCGA-DU-A6S8-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c643556f-5d54-4821-b2c1-af7b5ff789d6	e33db528-eb1b-4812-9956-03280bb3bd0c	g.chr19:8381422_8381424delATG	ENST00000301457.2	-	3	244_246	c.207_209delCAT	c.(205-210)atcatg>atg	p.I69del	NDUFA7_ENST00000598884.1_In_Frame_Del_p.I69del	NM_005001.3	NP_004992.2	O95182	NDUA7_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 7, 14.5kDa	69					mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			NS(1)|central_nervous_system(1)|lung(2)|ovary(1)	5					NADH(DB00157)	CTGCGACGACATGATGATGGAAG	0.611													29	68	---	---	---	---						-	8381424	ATG	-	8381422	7	5	141	1	0	1	0	1	0	0	0	0	10317	217	8	0	140	0	NDUFA7	19	8381422	In_Frame_Del	DEL	ATG	TCGA-DU-A6S8-01A-12D-A32B-08		8381422	50747561	43	22138											
DNM2	1785	broad.mit.edu	37	19	10908075	10908075	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A6S8-01A-12D-A32B-08	TCGA-DU-A6S8-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c643556f-5d54-4821-b2c1-af7b5ff789d6	e33db528-eb1b-4812-9956-03280bb3bd0c	g.chr19:10908075G>A	ENST00000314646.5	+	10	1380	c.1216G>A	c.(1216-1218)Gac>Aac	p.D406N	DNM2_ENST00000389253.4_Missense_Mutation_p.D406N|DNM2_ENST00000408974.4_Missense_Mutation_p.D406N|DNM2_ENST00000359692.6_Intron|DNM2_ENST00000355667.6_Intron|DNM2_ENST00000585892.1_Intron			P50570	DYN2_HUMAN	dynamin 2	406					G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport	cell junction|cytosol|Golgi membrane|microtubule|postsynaptic density|postsynaptic membrane	GTP binding|GTPase activity|microtubule binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	42			Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)			CTTCACCCCCGACATGGCCTT	0.547			"F, N, Splice, Mis, O"		ETP ALL								5	26					0	0	1	0	0	A	10908075	G	A	10908075	3	1	141	1	0	0	0	0	1	0	0	0	4699	1058	37	1	1397	1	DNM2	19	10908075	Missense_Mutation	SNP	G	TCGA-DU-A6S8-01A-12D-A32B-08	2526653	10908075	48220908	44	22139											
KLHL26	55295	broad.mit.edu	37	19	18775153	18775153	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A6S8-01A-12D-A32B-08	TCGA-DU-A6S8-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c643556f-5d54-4821-b2c1-af7b5ff789d6	e33db528-eb1b-4812-9956-03280bb3bd0c	g.chr19:18775153C>T	ENST00000300976.4	+	2	256	c.166C>T	c.(166-168)Ctc>Ttc	p.L56F	KLHL26_ENST00000596843.1_3'UTR|KLHL26_ENST00000595182.1_Missense_Mutation_p.L56F|KLHL26_ENST00000599006.1_Missense_Mutation_p.L56F	NM_018316.1	NP_060786.1	Q53HC5	KLH26_HUMAN	kelch-like family member 26	56										breast(1)|central_nervous_system(1)|kidney(1)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						CCTGGCCACCCTCCGCGCTCA	0.637													54	68					0	0	1	0	0	T	18775153	C	T	18775153	3	4	141	1	0	0	0	0	1	0	0	0	8424	681	24	2	172	2	KLHL26	19	18775153	Missense_Mutation	SNP	C	TCGA-DU-A6S8-01A-12D-A32B-08	7867078	18775153	40353830	45	22140											
ZNF714	148206	broad.mit.edu	37	19	21300392	21300392	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A6S8-01A-12D-A32B-08	TCGA-DU-A6S8-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c643556f-5d54-4821-b2c1-af7b5ff789d6	e33db528-eb1b-4812-9956-03280bb3bd0c	g.chr19:21300392G>A	ENST00000596143.1	+	5	1247	c.922G>A	c.(922-924)Gga>Aga	p.G308R	ZNF714_ENST00000596053.1_Intron|ZNF714_ENST00000291770.7_3'UTR|ZNF714_ENST00000601416.1_3'UTR	NM_182515.3	NP_872321	Q96N38	ZN714_HUMAN	zinc finger protein 714	309					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|lung(11)|urinary_tract(2)	18						AATTCATTCTGGAGAGAAATC	0.328													13	15					0	0	1	0	0	A	21300392	G	A	21300392	3	1	141	1	0	0	0	0	1	0	0	0	18174	1349	47	2	932	2	ZNF714	19	21300392	Missense_Mutation	SNP	G	TCGA-DU-A6S8-01A-12D-A32B-08	2525239	21300392	37828591	46	22141											
ZNF99	7652	broad.mit.edu	37	19	22941745	22941745	+	Silent	SNP	A	A	G			TCGA-DU-A6S8-01A-12D-A32B-08	TCGA-DU-A6S8-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c643556f-5d54-4821-b2c1-af7b5ff789d6	e33db528-eb1b-4812-9956-03280bb3bd0c	g.chr19:22941745A>G	ENST00000397104.3	-	5	692	c.693T>C	c.(691-693)ttT>ttC	p.F231F	ZNF99_ENST00000596209.1_Silent_p.F322F					zinc finger protein 99											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				AGAAATGGTTAAAAGCTTTGC	0.393													39	54					0	0	1	0	0	G	22941745	A	G	22941745	2	3	141	1	0	0	0	0	0	0	0	1	18246	359	13	3		3	ZNF99	19	22941745	Silent	SNP	A	TCGA-DU-A6S8-01A-12D-A32B-08	1641353	22941745	36187238	47	22142											
CLC	1178	broad.mit.edu	37	19	40225051	40225051	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-A6S8-01A-12D-A32B-08	TCGA-DU-A6S8-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c643556f-5d54-4821-b2c1-af7b5ff789d6	e33db528-eb1b-4812-9956-03280bb3bd0c	g.chr19:40225051C>A	ENST00000221804.4	-	3	250	c.175G>T	c.(175-177)Ggt>Tgt	p.G59C		NM_001828.5	NP_001819.2	Q05315	LPPL_HUMAN	Charcot-Leyden crystal galectin	59	Galectin.				lipid catabolic process|multicellular organismal development		carboxylesterase activity|lysophospholipase activity|sugar binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(2)|stomach(1)	12	all_cancers(60;2.99e-06)|all_lung(34;4.7e-08)|Lung NSC(34;5.46e-08)|Ovarian(47;0.06)	Renal(1328;0.000147)|Hepatocellular(1079;0.0202)|Myeloproliferative disorder(2;0.0255)	Epithelial(26;6.43e-25)|OV - Ovarian serous cystadenocarcinoma(5;1.07e-24)|all cancers(26;8.38e-23)	GBM - Glioblastoma multiforme(1328;4.97e-06)|STAD - Stomach adenocarcinoma(1328;0.00655)		ACACGACGACCAAAGCACACT	0.493													16	88					9.16793e-09	9.6994e-09	1	1	0	A	40225051	C	A	40225051	3	1	141	1	0	0	0	0	1	0	0	0	3479	594	21	5	261	5	CLC	19	40225051	Missense_Mutation	SNP	C	TCGA-DU-A6S8-01A-12D-A32B-08	17283306	40225051	18903932	48	22143											
CIC	23152	broad.mit.edu	37	19	42791818	42791818	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A6S8-01A-12D-A32B-08	TCGA-DU-A6S8-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c643556f-5d54-4821-b2c1-af7b5ff789d6	e33db528-eb1b-4812-9956-03280bb3bd0c	g.chr19:42791818G>A	ENST00000572681.2	+	6	3499	c.3431G>A	c.(3430-3432)gGc>gAc	p.G1144D	CIC_ENST00000160740.3_Missense_Mutation_p.G235D|CIC_ENST00000575354.2_Missense_Mutation_p.G235D			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	235	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				AAGATCCTGGGCGAGTGGTGG	0.612			"Mis, F, S"		oligodendroglioma								24	9					0	0	1	0	0	A	42791818	G	A	42791818	3	1	141	1	0	0	0	0	1	0	0	0	3446	1203	42	2	722	2	CIC	19	42791818	Missense_Mutation	SNP	G	TCGA-DU-A6S8-01A-12D-A32B-08	2566767	42791818	16337165	49	22144											
NLRP13	126204	broad.mit.edu	37	19	56423307	56423307	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A6S8-01A-12D-A32B-08	TCGA-DU-A6S8-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c643556f-5d54-4821-b2c1-af7b5ff789d6	e33db528-eb1b-4812-9956-03280bb3bd0c	g.chr19:56423307C>T	ENST00000588751.1	-	5	1900	c.1876G>A	c.(1876-1878)Gct>Act	p.A626T	NLRP13_ENST00000342929.3_Missense_Mutation_p.A626T			Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	626							ATP binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		GCACTTTCAGCCTTACCTAAC	0.403													13	24					0	0	1	0	0	T	56423307	C	T	56423307	3	4	141	1	0	0	0	0	1	0	0	0	10522	739	26	2	1281	2	NLRP13	19	56423307	Missense_Mutation	SNP	C	TCGA-DU-A6S8-01A-12D-A32B-08	13631489	56423307	2705676	50	22145											
NRSN2	80023	broad.mit.edu	37	20	333951	333951	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A6S8-01A-12D-A32B-08	TCGA-DU-A6S8-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c643556f-5d54-4821-b2c1-af7b5ff789d6	e33db528-eb1b-4812-9956-03280bb3bd0c	g.chr20:333951G>A	ENST00000382291.3	+	4	527	c.287G>A	c.(286-288)gGt>gAt	p.G96D	NRSN2_ENST00000492242.1_3'UTR|NRSN2_ENST00000382285.2_Missense_Mutation_p.G96D|NRSN2_ENST00000608736.1_Intron	NM_024958.2	NP_079234.1	Q9GZP1	NRSN2_HUMAN	neurensin 2	96						integral to membrane|plasma membrane|transport vesicle				endometrium(1)|large_intestine(2)|lung(4)|urinary_tract(1)	8		all_cancers(10;0.0834)				ATCGGTGAGGGTGAGTTCCTG	0.647													4	69					0	0	1	0	0	A	333951	G	A	333951	3	1	141	1	0	0	0	0	1	0	0	0	10711	1261	44	2	293	2	NRSN2	20	333951	Missense_Mutation	SNP	G	TCGA-DU-A6S8-01A-12D-A32B-08		333951	62691569	51	22146											
SEMG2	6407	broad.mit.edu	37	20	43851147	43851147	+	Missense_Mutation	SNP	C	C	T	rs140069155		TCGA-DU-A6S8-01A-12D-A32B-08	TCGA-DU-A6S8-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c643556f-5d54-4821-b2c1-af7b5ff789d6	e33db528-eb1b-4812-9956-03280bb3bd0c	g.chr20:43851147C>T	ENST00000372769.3	+	2	964	c.874C>T	c.(874-876)Cgt>Tgt	p.R292C		NM_003008.2	NP_002999.1	Q02383	SEMG2_HUMAN	semenogelin II	292	4 X 60 AA tandem repeats, type I.|Repeat-rich region.				sexual reproduction	extracellular space|stored secretory granule	structural molecule activity	p.R292S(1)		autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Myeloproliferative disorder(115;0.0122)				CCCGTCTTCACGTACAGAAGA	0.393													41	67					0	0	1	0	0	T	43851147	C	T	43851147	3	4	141	1	0	0	0	0	1	0	0	0	14099	536	19	1	880	1	SEMG2	20	43851147	Missense_Mutation	SNP	C	TCGA-DU-A6S8-01A-12D-A32B-08	43517196	43851147	19174373	52	22147											
SLC35C2	51006	broad.mit.edu	37	20	44979079	44979079	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-A6S8-01A-12D-A32B-08	TCGA-DU-A6S8-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c643556f-5d54-4821-b2c1-af7b5ff789d6	e33db528-eb1b-4812-9956-03280bb3bd0c	g.chr20:44979079C>G	ENST00000372227.1	-	10	1592	c.1052G>C	c.(1051-1053)gGt>gCt	p.G351A	SLC35C2_ENST00000493599.1_5'UTR|SLC35C2_ENST00000372230.5_Missense_Mutation_p.G351A|SLC35C2_ENST00000372229.1_Missense_Mutation_p.G218A|SLC35C2_ENST00000243896.2_Missense_Mutation_p.G351A|SLC35C2_ENST00000317734.8_Missense_Mutation_p.G330A|SLC35C2_ENST00000543605.1_Missense_Mutation_p.G380A	NM_001281458.1|NM_001281460.1	NP_001268387.1|NP_001268389.1	Q9NQQ7	S35C2_HUMAN	solute carrier family 35 (GDP-fucose transporter), member C2	351					transport	integral to membrane				cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)	16		Myeloproliferative disorder(115;0.0122)				CTCATTGTCACCTTCCTCCCG	0.642													18	44					0	0	1	0	0	G	44979079	C	G	44979079	3	3	141	1	0	0	0	0	1	0	0	0	14635	507	18	5	49	5	SLC35C2	20	44979079	Missense_Mutation	SNP	C	TCGA-DU-A6S8-01A-12D-A32B-08	1127932	44979079	18046441	53	22148											
SLC17A9	63910	broad.mit.edu	37	20	61594021	61594021	+	Silent	SNP	C	C	T			TCGA-DU-A6S8-01A-12D-A32B-08	TCGA-DU-A6S8-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c643556f-5d54-4821-b2c1-af7b5ff789d6	e33db528-eb1b-4812-9956-03280bb3bd0c	g.chr20:61594021C>T	ENST00000370349.3	+	6	729	c.525C>T	c.(523-525)taC>taT	p.Y175Y	SLC17A9_ENST00000488738.1_3'UTR|SLC17A9_ENST00000370351.4_Silent_p.Y181Y			Q9BYT1	S17A9_HUMAN	solute carrier family 17 (vesicular nucleotide transporter), member 9	181					exocytosis|transmembrane transport	integral to membrane	transporter activity			endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	23						TGGAATGGTACGGCTGGCAGA	0.637													10	78					0	0	1	0	0	T	61594021	C	T	61594021	2	4	141	1	0	0	0	0	0	0	0	1	14479	547	19	1		1	SLC17A9	20	61594021	Silent	SNP	C	TCGA-DU-A6S8-01A-12D-A32B-08	16614942	61594021	1431499	54	22149											
ICOSLG	23308	broad.mit.edu	37	21	45658330	45658330	+	Splice_Site	SNP	C	C	T			TCGA-DU-A6S8-01A-12D-A32B-08	TCGA-DU-A6S8-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c643556f-5d54-4821-b2c1-af7b5ff789d6	e33db528-eb1b-4812-9956-03280bb3bd0c	g.chr21:45658330C>T	ENST00000407780.3	-	2	183		c.e2+1		ICOSLG_ENST00000400377.3_Splice_Site|ICOSLG_ENST00000400379.3_Splice_Site|ICOSLG_ENST00000344330.4_Splice_Site	NM_001283052.1	NP_001269981.1	O75144	ICOSL_HUMAN	inducible T-cell co-stimulator ligand						B cell activation|defense response|hyperosmotic response|positive regulation of activated T cell proliferation|signal transduction|T cell activation|T cell costimulation		receptor binding			endometrium(2)|lung(1)|stomach(1)|urinary_tract(1)	5				Colorectal(79;0.0163)|READ - Rectum adenocarcinoma(84;0.0772)		CCTGAACTTACCAGCTCGAAG	0.612													8	14					0	0	1	0	0	T	45658330	C	T	45658330	5	4	141	1	0	0	0	0	0	0	1	0	7531	521	18	2	876	2	ICOSLG	21	45658330	Splice_Site	SNP	C	TCGA-DU-A6S8-01A-12D-A32B-08		45658330	2471565	55	22150											
PKDREJ	10343	broad.mit.edu	37	22	46657680	46657680	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A6S8-01A-12D-A32B-08	TCGA-DU-A6S8-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c643556f-5d54-4821-b2c1-af7b5ff789d6	e33db528-eb1b-4812-9956-03280bb3bd0c	g.chr22:46657680C>T	ENST00000253255.5	-	1	1539	c.1540G>A	c.(1540-1542)Gga>Aga	p.G514R		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	514	REJ.				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		CCATTCCTTCCTGTTACAGTT	0.388													26	289					0	0	1	0	0	T	46657680	C	T	46657680	3	4	141	1	0	0	0	0	1	0	0	0	12018	690	24	2	5225	2	PKDREJ	22	46657680	Missense_Mutation	SNP	C	TCGA-DU-A6S8-01A-12D-A32B-08		46657680	4646886	56	22151											
DCAF8L1	139425	broad.mit.edu	37	X	27998106	27998106	+	Missense_Mutation	SNP	C	C	A	rs138650117		TCGA-DU-A6S8-01A-12D-A32B-08	TCGA-DU-A6S8-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c643556f-5d54-4821-b2c1-af7b5ff789d6	e33db528-eb1b-4812-9956-03280bb3bd0c	g.chrX:27998106C>A	ENST00000441525.1	-	1	1460	c.1346G>T	c.(1345-1347)cGg>cTg	p.R449L		NM_001017930.1	NP_001017930.1	A6NGE4	DC8L1_HUMAN	DDB1 and CUL4 associated factor 8-like 1	449								p.R449L(1)		NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						AAACTCACTCCGGGGGCCATA	0.463													3	33					0.00024832	0.000258962	1	1	0	A	27998106	C	A	27998106	3	1	141	1	0	0	0	0	1	0	0	0	4301	652	23	5	460	5	DCAF8L1	23	27998106	Missense_Mutation	SNP	C	TCGA-DU-A6S8-01A-12D-A32B-08		27998106	127272454	57	22152											
NR0B1	190	broad.mit.edu	37	X	30327411	30327411	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A6S8-01A-12D-A32B-08	TCGA-DU-A6S8-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c643556f-5d54-4821-b2c1-af7b5ff789d6	e33db528-eb1b-4812-9956-03280bb3bd0c	g.chrX:30327411G>A	ENST00000378970.4	-	1	304	c.70C>T	c.(70-72)Cgc>Tgc	p.R24C	NR0B1_ENST00000453287.1_Missense_Mutation_p.R24C	NM_000475.4	NP_000466.2	P51843	NR0B1_HUMAN	nuclear receptor subfamily 0, group B, member 1	24	4 X 67 AA tandem repeats.				adrenal gland development|hypothalamus development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of steroid hormone receptor signaling pathway|pituitary gland development|protein localization|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|steroid biosynthetic process	cytoplasm|membrane fraction|nucleoplasm|nucleus|polysomal ribosome	AF-2 domain binding|DNA hairpin binding|ligand-regulated transcription factor activity|protein domain specific binding|protein homodimerization activity|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|steroid hormone receptor binding|transcription corepressor activity|transcription factor binding			central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(2)	24					Dexamethasone(DB01234)|Tretinoin(DB00755)	GGAGCCGCGCGCGTTTGCTTC	0.692													8	13					0	0	1	0	0	A	30327411	G	A	30327411	3	1	141	1	0	0	0	0	1	0	0	0	10661	1087	38	1	1350	1	NR0B1	23	30327411	Missense_Mutation	SNP	G	TCGA-DU-A6S8-01A-12D-A32B-08	2329305	30327411	124943149	58	22153											
FAM47A	158724	broad.mit.edu	37	X	34149549	34149549	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A6S8-01A-12D-A32B-08	TCGA-DU-A6S8-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c643556f-5d54-4821-b2c1-af7b5ff789d6	e33db528-eb1b-4812-9956-03280bb3bd0c	g.chrX:34149549G>A	ENST00000346193.3	-	1	898	c.847C>T	c.(847-849)Cgg>Tgg	p.R283W		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	283										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						GTCTTCTCCCGGCCCTCACAA	0.577													17	25					0	0	1	0	0	A	34149549	G	A	34149549	3	1	141	1	0	0	0	0	1	0	0	0	5605	1115	39	1	1532	1	FAM47A	23	34149549	Missense_Mutation	SNP	G	TCGA-DU-A6S8-01A-12D-A32B-08	3822138	34149549	121121011	59	22154											
CYLC1	1538	broad.mit.edu	37	X	83128413	83128413	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A6S8-01A-12D-A32B-08	TCGA-DU-A6S8-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c643556f-5d54-4821-b2c1-af7b5ff789d6	e33db528-eb1b-4812-9956-03280bb3bd0c	g.chrX:83128413C>T	ENST00000329312.4	+	4	734	c.697C>T	c.(697-699)Ccc>Tcc	p.P233S		NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head cytoskeleton 1	233					cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						TAGTAATGATCCCATATCAGA	0.328													18	23					0	0	1	0	0	T	83128413	C	T	83128413	3	4	141	1	0	0	0	0	1	0	0	0	4164	855	30	2	711	2	CYLC1	23	83128413	Missense_Mutation	SNP	C	TCGA-DU-A6S8-01A-12D-A32B-08	48978864	83128413	72142147	60	22155											
NXT2	55916	broad.mit.edu	37	X	108780167	108780167	+	Splice_Site	SNP	C	C	T			TCGA-DU-A6S8-01A-12D-A32B-08	TCGA-DU-A6S8-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c643556f-5d54-4821-b2c1-af7b5ff789d6	e33db528-eb1b-4812-9956-03280bb3bd0c	g.chrX:108780167C>T	ENST00000218004.1	+	2	199	c.97C>T	c.(97-99)Cct>Tct	p.P33S	NXT2_ENST00000372107.1_5'UTR|NXT2_ENST00000372106.1_5'UTR	NM_018698.4	NP_061168.2	Q9NPJ8	NXT2_HUMAN	nuclear transport factor 2-like export factor 2	0	NTF2.				mRNA transport|protein transport	cytoplasm|nucleus				endometrium(3)|large_intestine(1)|lung(1)|ovary(1)	6						ATTCCGCAGCCCTGCGGACCG	0.572													12	12					0	0	1	0	0	T	108780167	C	T	108780167	5	4	141	1	0	0	0	0	0	0	1	0	10843	637	22	2	103	2	NXT2	23	108780167	Splice_Site	SNP	C	TCGA-DU-A6S8-01A-12D-A32B-08	25651754	108780167	46490393	61	22156											
ACTRT1	139741	broad.mit.edu	37	X	127185637	127185637	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A6S8-01A-12D-A32B-08	TCGA-DU-A6S8-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c643556f-5d54-4821-b2c1-af7b5ff789d6	e33db528-eb1b-4812-9956-03280bb3bd0c	g.chrX:127185637C>T	ENST00000371124.3	-	1	745	c.549G>A	c.(547-549)atG>atA	p.M183I		NM_138289.3	NP_612146.1	Q8TDG2	ACTT1_HUMAN	actin-related protein T1	183						cytoplasm|cytoskeleton				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	34						CCCTCCCTGCCATACAGAGTT	0.542													40	68					0	0	1	0	0	T	127185637	C	T	127185637	3	4	141	1	0	0	0	0	1	0	0	0	217	594	21	2	585	2	ACTRT1	23	127185637	Missense_Mutation	SNP	C	TCGA-DU-A6S8-01A-12D-A32B-08	18405470	127185637	28084923	62	22157											
CXorf66	347487	broad.mit.edu	37	X	139038428	139038428	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-A6S8-01A-12D-A32B-08	TCGA-DU-A6S8-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c643556f-5d54-4821-b2c1-af7b5ff789d6	e33db528-eb1b-4812-9956-03280bb3bd0c	g.chrX:139038428T>G	ENST00000370540.1	-	3	736	c.713A>C	c.(712-714)aAg>aCg	p.K238T		NM_001013403.2	NP_001013421.1	Q5JRM2	CX066_HUMAN	chromosome X open reading frame 66	238						integral to membrane				breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|skin(1)|stomach(1)	26						TTTGGGAGGCTTAGCCAATTC	0.438													132	156					0	0	1	0	0	G	139038428	T	G	139038428	3	3	141	1	0	0	0	0	1	0	0	0	4141	1609	56	5	376	5	CXorf66	23	139038428	Missense_Mutation	SNP	T	TCGA-DU-A6S8-01A-12D-A32B-08	11852791	139038428	16232132	63	22158											
IRAK1	3654	broad.mit.edu	37	X	153284093	153284093	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A6S8-01A-12D-A32B-08	TCGA-DU-A6S8-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c643556f-5d54-4821-b2c1-af7b5ff789d6	e33db528-eb1b-4812-9956-03280bb3bd0c	g.chrX:153284093G>A	ENST00000369980.3	-	5	853	c.686C>T	c.(685-687)gCg>gTg	p.A229V	IRAK1_ENST00000369974.2_Missense_Mutation_p.A229V|IRAK1_ENST00000393687.2_Missense_Mutation_p.A229V|IRAK1_ENST00000393682.1_Missense_Mutation_p.A255V|IRAK1_ENST00000429936.2_Missense_Mutation_p.A255V|IRAK1_ENST00000477274.1_5'UTR	NM_001025242.1|NM_001569.3	NP_001020413.1|NP_001560.2	P51617	IRAK1_HUMAN	interleukin-1 receptor-associated kinase 1	229	Protein kinase.				activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|anti-apoptosis|innate immune response|interleukin-1-mediated signaling pathway|JNK cascade|lipopolysaccharide-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of NF-kappaB transcription factor activity|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|protein autophosphorylation|protein oligomerization|regulation of cytokine-mediated signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transmembrane receptor protein serine/threonine kinase signaling pathway	cytosol|endosome membrane|interleukin-1 receptor complex	ATP binding|NF-kappaB-inducing kinase activity|protein binding|protein heterodimerization activity|protein homodimerization activity|ubiquitin-protein ligase activity			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(15)|ovary(2)	25	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCTCATCACCGCCCGGTACAC	0.592													20	160					0	0	1	0	0	A	153284093	G	A	153284093	3	1	141	1	0	0	0	0	1	0	0	0	7865	1087	38	1	1492	1	IRAK1	23	153284093	Missense_Mutation	SNP	G	TCGA-DU-A6S8-01A-12D-A32B-08	14245665	153284093	1986467	64	22159											
OPN1LW	5956	broad.mit.edu	37	X	153418564	153418564	+	Silent	SNP	C	C	T			TCGA-DU-A6S8-01A-12D-A32B-08	TCGA-DU-A6S8-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c643556f-5d54-4821-b2c1-af7b5ff789d6	e33db528-eb1b-4812-9956-03280bb3bd0c	g.chrX:153418564C>T	ENST00000369951.4	+	3	621	c.561C>T	c.(559-561)ccC>ccT	p.P187P	OPN1LW_ENST00000463296.1_3'UTR	NM_020061.4	NP_064445.2	P04000	OPSR_HUMAN	opsin 1 (cone pigments), long-wave-sensitive	187					phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity			endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	15	all_cancers(53;1.83e-16)|all_epithelial(53;2.73e-10)|all_lung(58;6.39e-07)|Lung NSC(58;8.37e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CAGCCCCGCCCATCTTTGGTT	0.567													9	35					0	0	1	0	0	T	153418564	C	T	153418564	2	4	141	1	0	0	0	0	0	0	0	1	10925	581	21	2		2	OPN1LW	23	153418564	Silent	SNP	C	TCGA-DU-A6S8-01A-12D-A32B-08	134471	153418564	1851996	65	22160											
PEX14	5195	broad.mit.edu	37	1	10689808	10689808	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr1:10689808G>C	ENST00000356607.4	+	9	978	c.898G>C	c.(898-900)Gag>Cag	p.E300Q	PEX14_ENST00000538836.1_Missense_Mutation_p.E236Q	NM_004565.2	NP_004556.1	O75381	PEX14_HUMAN	peroxisomal biogenesis factor 14	300					negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|protein homooligomerization|protein import into peroxisome matrix|transmembrane transport	integral to membrane|nucleus|peroxisomal membrane|protein complex	protein N-terminus binding|transcription corepressor activity			breast(3)|endometrium(1)|large_intestine(3)|lung(5)|prostate(1)	13	Ovarian(185;0.203)	all_lung(284;6.02e-06)|Lung NSC(185;9.62e-06)|Renal(390;0.000147)|Breast(348;0.000932)|Colorectal(325;0.00215)|Hepatocellular(190;0.00913)|Ovarian(437;0.023)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0292)|Colorectal(212;9.13e-08)|COAD - Colon adenocarcinoma(227;2.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000482)|Kidney(185;0.00174)|KIRC - Kidney renal clear cell carcinoma(229;0.00457)|STAD - Stomach adenocarcinoma(132;0.0249)|READ - Rectum adenocarcinoma(331;0.0419)		GGAGGAAGGCGAGGGGGTGGT	0.652													3	17					0	0	1	0	0	C	10689808	G	C	10689808	3	2	142	1	0	0	0	0	1	0	0	0	11790	1059	37	5	932	5	PEX14	1	10689808	Missense_Mutation	SNP	G	TCGA-DU-A76K-01A-11D-A33T-08		10689808	238560813	1	22161											
PRMT6	55170	broad.mit.edu	37	1	107599766	107599766	+	Silent	SNP	A	A	G			TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr1:107599766A>G	ENST00000361318.5	+	1	500	c.252A>G	c.(250-252)gtA>gtG	p.V84V	PRMT6_ENST00000370078.1_Silent_p.V143V	NM_018137.2	NP_060607.2	Q96LA8	ANM6_HUMAN	protein arginine methyltransferase 6	143					base-excision repair|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone binding|histone methyltransferase activity (H2A-R3 specific)|histone methyltransferase activity (H3-R2 specific)|histone methyltransferase activity (H4-R3 specific)|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity			biliary_tract(1)|breast(2)|kidney(1)|large_intestine(4)|lung(5)|urinary_tract(1)	14		all_epithelial(167;0.000429)|all_lung(203;0.00122)|Lung NSC(277;0.00185)		Lung(183;0.0305)|Epithelial(280;0.0765)|Colorectal(144;0.0998)|all cancers(265;0.14)|LUSC - Lung squamous cell carcinoma(189;0.173)|BRCA - Breast invasive adenocarcinoma(282;0.242)		TGGAGACTGTAGAGTTGCCGG	0.652													64	144					0	0	1	0	0	G	107599766	A	G	107599766	2	3	142	1	0	0	0	0	0	0	0	1	12592	407	15	3		3	PRMT6	1	107599766	Silent	SNP	A	TCGA-DU-A76K-01A-11D-A33T-08	96909958	107599766	141650855	2	22162											
AMPD1	270	broad.mit.edu	37	1	115231293	115231293	+	Missense_Mutation	SNP	C	C	T	rs147972392		TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr1:115231293C>T	ENST00000369538.3	-	2	238	c.191G>A	c.(190-192)cGt>cAt	p.R64H	AMPD1_ENST00000353928.6_Missense_Mutation_p.R35H|AMPD1_ENST00000520113.2_Missense_Mutation_p.R68H	NM_001172626.1	NP_001166097.1	P23109	AMPD1_HUMAN	adenosine monophosphate deaminase 1	35					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	Adenosine monophosphate(DB00131)	AATCTCCTGACGACCTCCTTC	0.423													16	265					0	0	1	0	0	T	115231293	C	T	115231293	3	4	142	1	0	0	0	0	1	0	0	0	581	536	19	1	2195	1	AMPD1	1	115231293	Missense_Mutation	SNP	C	TCGA-DU-A76K-01A-11D-A33T-08	7631527	115231293	134019328	3	22163											
SELE	6401	broad.mit.edu	37	1	169702103	169702103	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr1:169702103T>C	ENST00000333360.7	-	3	213	c.74A>G	c.(73-75)aAc>aGc	p.N25S	SELE_ENST00000367782.4_Missense_Mutation_p.N25S|C1orf112_ENST00000498289.1_Intron|SELE_ENST00000367780.4_Missense_Mutation_p.N25S|SELE_ENST00000367776.1_Missense_Mutation_p.N25S|SELE_ENST00000367775.1_Missense_Mutation_p.N25S|SELE_ENST00000367774.1_Missense_Mutation_p.N25S|SELE_ENST00000367781.4_Missense_Mutation_p.N25S|SELE_ENST00000367777.1_Missense_Mutation_p.N25S|SELE_ENST00000367779.4_Missense_Mutation_p.N25S	NM_000450.2	NP_000441.2	P16581	LYAM2_HUMAN	selectin E	25	C-type lectin.				actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	all_hematologic(923;0.208)					CGTGGAGGTGTTGTAAGACCA	0.418													57	118					0	0	1	0	0	C	169702103	T	C	169702103	3	2	142	1	0	0	0	0	1	0	0	0	14067	1725	60	3	1802	3	SELE	1	169702103	Missense_Mutation	SNP	T	TCGA-DU-A76K-01A-11D-A33T-08	54470810	169702103	79548518	4	22164											
RNF103	7844	broad.mit.edu	37	2	86831482	86831482	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr2:86831482C>A	ENST00000237455.4	-	4	2510	c.1542G>T	c.(1540-1542)atG>atT	p.M514I	AC015971.2_ENST00000426549.1_RNA|AC015971.2_ENST00000439077.1_RNA|AC015971.2_ENST00000597638.1_RNA|AC015971.2_ENST00000424788.1_RNA|RNF103-CHMP3_ENST00000604011.1_Intron|CHMP3_ENST00000439940.2_Intron	NM_001198951.1|NM_005667.3	NP_001185880.1|NP_005658.1	O00237	RN103_HUMAN	ring finger protein 103	514					central nervous system development|ER-associated protein catabolic process	endoplasmic reticulum membrane|integral to membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(7)|skin(2)	25						TAAATCGCCACATTGGTAAGT	0.433													134	344					2.31934e-59	2.4782e-59	1	1	0	A	86831482	C	A	86831482	3	1	142	1	0	0	0	0	1	0	0	0	13475	478	17	5	519	5	RNF103	2	86831482	Missense_Mutation	SNP	C	TCGA-DU-A76K-01A-11D-A33T-08		86831482	156367891	5	22165											
DNAH12	201625	broad.mit.edu	37	3	57528508	57528509	+	Frame_Shift_Del	DEL	TA	TA	-	rs116066702	byFrequency	TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr3:57528508_57528509delTA	ENST00000351747.2	-	2	269_270	c.89_90delTA	c.(88-90)atafs	p.I30fs	DNAH12_ENST00000311202.6_Frame_Shift_Del_p.I30fs|DNAH12_ENST00000389536.4_Frame_Shift_Del_p.I30fs	NM_178504.4	NP_848599.3	Q6ZR08	DYH12_HUMAN	dynein, axonemal, heavy chain 12	30	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|prostate(1)|skin(1)	25						TATCAACGCCTATGTTTTCTGG	0.416													73	195	---	---	---	---						-	57528509	TA	-	57528508	7	5	142	1	0	1	0	1	0	0	0	0	4628	1512	53	0	9463	0	DNAH12	3	57528508	Frame_Shift_Del	DEL	TA	TCGA-DU-A76K-01A-11D-A33T-08		57528508	140493922	6	22166											
ECE2	9718	broad.mit.edu	37	3	184008969	184008969	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr3:184008969C>T	ENST00000402825.3	+	17	2330	c.2330C>T	c.(2329-2331)aCg>aTg	p.T777M	ECE2_ENST00000357474.5_Missense_Mutation_p.T705M|ECE2_ENST00000359140.4_Missense_Mutation_p.T630M|EIF2B5_ENST00000444495.1_Intron|ECE2_ENST00000404464.3_Missense_Mutation_p.T659M	NM_014693.3	NP_055508.3	O60344	ECE2_HUMAN	endothelin converting enzyme 2	777	Endothelin-converting enzyme 2 region.				brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing	cytoplasmic vesicle membrane|Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity|methyltransferase activity			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GGCCGCCAGACGCTGGGGGAG	0.622													41	108					0	0	1	0	0	T	184008969	C	T	184008969	3	4	142	1	0	0	0	0	1	0	0	0	4916	536	19	1	2960	1	ECE2	3	184008969	Missense_Mutation	SNP	C	TCGA-DU-A76K-01A-11D-A33T-08	126480461	184008969	14013461	7	22167											
RTP1	132112	broad.mit.edu	37	3	186917604	186917604	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr3:186917604C>T	ENST00000312295.4	+	2	568	c.538C>T	c.(538-540)Cgc>Tgc	p.R180C	RP11-208N14.4_ENST00000356133.3_RNA	NM_153708.2	NP_714919.2	P59025	RTP1_HUMAN	receptor (chemosensory) transporter protein 1	180					protein insertion into membrane	cell surface|integral to membrane|plasma membrane	olfactory receptor binding			breast(2)|endometrium(4)|large_intestine(5)|lung(6)|ovary(3)|skin(2)	22	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.56e-18)	GBM - Glioblastoma multiforme(93;0.0269)		CGTGGCCAGCCGCCAGGACAA	0.682													25	51					0	0	1	0	0	T	186917604	C	T	186917604	3	4	142	1	0	0	0	0	1	0	0	0	13785	652	23	1	544	1	RTP1	3	186917604	Missense_Mutation	SNP	C	TCGA-DU-A76K-01A-11D-A33T-08	2908635	186917604	11104826	8	22168											
RAB28	9364	broad.mit.edu	37	4	13378229	13378229	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr4:13378229C>G	ENST00000288723.4	-	6	727	c.513G>C	c.(511-513)caG>caC	p.Q171H	RAB28_ENST00000338176.4_Missense_Mutation_p.Q171H|RAB28_ENST00000330852.5_Missense_Mutation_p.Q171H	NM_004249.3	NP_004240.2	P51157	RAB28_HUMAN	RAB28, member RAS oncogene family	171					small GTPase mediated signal transduction	plasma membrane	GDP binding|GTP binding|GTPase activity			endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	8						CAGCAACTTTCTGAAAGCACA	0.289													62	178					0	0	1	0	0	G	13378229	C	G	13378229	3	3	142	1	0	0	0	0	1	0	0	0	12968	912	32	4	300	4	RAB28	4	13378229	Missense_Mutation	SNP	C	TCGA-DU-A76K-01A-11D-A33T-08		13378229	177776047	9	22169											
TSPAN5	10098	broad.mit.edu	37	4	99399849	99399849	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr4:99399849G>C	ENST00000305798.3	-	5	965	c.563C>G	c.(562-564)aCt>aGt	p.T188S	TSPAN5_ENST00000505184.1_Missense_Mutation_p.T117S	NM_005723.3	NP_005714.2	P62079	TSN5_HUMAN	tetraspanin 5	188						integral to membrane				kidney(2)|large_intestine(6)|lung(5)|upper_aerodigestive_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(123;1.89e-07)		GGGATCTTTAGTGCAGCAGGA	0.468													62	146					0	0	1	0	0	C	99399849	G	C	99399849	3	2	142	1	0	0	0	0	1	0	0	0	16711	1029	36	4	259	4	TSPAN5	4	99399849	Missense_Mutation	SNP	G	TCGA-DU-A76K-01A-11D-A33T-08	86021620	99399849	91754427	10	22170											
LECT2	3950	broad.mit.edu	37	5	135288604	135288604	+	Silent	SNP	G	G	A			TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr5:135288604G>A	ENST00000274507.1	-	2	299	c.99C>T	c.(97-99)atC>atT	p.I33I	LECT2_ENST00000514447.2_Silent_p.I33I|LECT2_ENST00000522943.1_Silent_p.I33I|LECT2_ENST00000512872.1_5'UTR|LECT2_ENST00000471827.1_5'UTR	NM_002302.2	NP_002293.2	O14960	LECT2_HUMAN	leukocyte cell-derived chemotaxin 2	33					chemotaxis|skeletal system development	cytoplasm|extracellular space				large_intestine(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CACACGTCCGGATCTCATTGG	0.512													25	290					0	0	1	0	0	A	135288604	G	A	135288604	2	1	142	1	0	0	0	0	0	0	0	1	8752	1164	41	2		2	LECT2	5	135288604	Silent	SNP	G	TCGA-DU-A76K-01A-11D-A33T-08		135288604	45626656	11	22171											
SLU7	10569	broad.mit.edu	37	5	159831523	159831525	+	In_Frame_Del	DEL	TTC	TTC	-			TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr5:159831523_159831525delTTC	ENST00000297151.4	-	15	1890_1892	c.1503_1505delGAA	c.(1501-1506)aagaaa>aaa	p.501_502KK>K		NM_006425.4	NP_006416.3	O95391	SLU7_HUMAN	SLU7 splicing factor homolog (S. cerevisiae)	501					alternative nuclear mRNA splicing, via spliceosome|nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|cytoplasm|nuclear speck|small nuclear ribonucleoprotein complex	pre-mRNA 3'-splice site binding|second spliceosomal transesterification activity|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(4)|lung(6)|ovary(1)	20	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ctttttctttttcttcttcttct	0.335													27	115	---	---	---	---						-	159831525	TTC	-	159831523	7	5	142	1	0	1	0	1	0	0	0	0	14809	1841	64	0	263	0	SLU7	5	159831523	In_Frame_Del	DEL	TTC	TCGA-DU-A76K-01A-11D-A33T-08	24542919	159831523	21083737	12	22172											
PRSS16	10279	broad.mit.edu	37	6	27222836	27222836	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr6:27222836C>T	ENST00000230582.3	+	11	1417	c.1402C>T	c.(1402-1404)Cgc>Tgc	p.R468C	PRSS16_ENST00000377456.2_3'UTR|PRSS16_ENST00000421826.2_Missense_Mutation_p.R211C	NM_005865.3	NP_005856.1	Q9NQE7	TSSP_HUMAN	protease, serine, 16 (thymus)	468					protein catabolic process|proteolysis	cytoplasmic membrane-bounded vesicle	serine-type peptidase activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						TCTTCTTATCCGCACTGGCTC	0.547													83	223					0	0	1	0	0	T	27222836	C	T	27222836	3	4	142	1	0	0	0	0	1	0	0	0	12666	652	23	1	1444	1	PRSS16	6	27222836	Missense_Mutation	SNP	C	TCGA-DU-A76K-01A-11D-A33T-08		27222836	143892231	13	22173											
HLA-DMB	3109	broad.mit.edu	37	6	32908535	32908535	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr6:32908535C>A	ENST00000416244.2	-	1	244	c.50G>T	c.(49-51)gGa>gTa	p.G17V	HLA-DMB_ENST00000418107.2_Missense_Mutation_p.G17V|XXbac-BPG181M17.5_ENST00000429234.1_Missense_Mutation_p.G49V			P28068	DMB_HUMAN	major histocompatibility complex, class II, DM beta	17					antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	integral to membrane|late endosome membrane|lysosomal membrane|MHC class II protein complex				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13						CTTACCTGCTCCTGTGCAGCC	0.557													11	18					3.07112e-06	3.15194e-06	1	1	0	A	32908535	C	A	32908535	3	1	142	1	0	0	0	0	1	0	0	0	7240	855	30	5	765	5	HLA-DMB	6	32908535	Missense_Mutation	SNP	C	TCGA-DU-A76K-01A-11D-A33T-08	5685699	32908535	138206532	14	22174											
UBE2H	7328	broad.mit.edu	37	7	129474885	129474885	+	Silent	SNP	G	G	A			TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr7:129474885G>A	ENST00000355621.3	-	7	837	c.444C>T	c.(442-444)taC>taT	p.Y148Y	UBE2H_ENST00000473814.2_Silent_p.Y117Y	NM_001202498.1|NM_003344.3	NP_001189427.1|NP_003335.1	P62256	UBE2H_HUMAN	ubiquitin-conjugating enzyme E2H	148					protein K11-linked ubiquitination|protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process		ATP binding|ubiquitin-protein ligase activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|skin(1)	10	Melanoma(18;0.0435)					CCTCCGTGGCGTATTTCTGGA	0.567													45	167					0	0	1	0	0	A	129474885	G	A	129474885	2	1	142	1	0	0	0	0	0	0	0	1	16919	1140	40	1		1	UBE2H	7	129474885	Silent	SNP	G	TCGA-DU-A76K-01A-11D-A33T-08		129474885	29663778	15	22175											
KIAA1549	57670	broad.mit.edu	37	7	138589815	138589815	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr7:138589815G>A	ENST00000440172.1	-	7	3521	c.3473C>T	c.(3472-3474)cCa>cTa	p.P1158L	KIAA1549_ENST00000422774.1_Missense_Mutation_p.P1158L|KIAA1549_ENST00000242365.4_Missense_Mutation_p.P1108L	NM_001164665.1|NM_020910.2	NP_001158137.1|NP_065961.2	Q9HCM3	K1549_HUMAN	KIAA1549	1158						integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						GTTGAGCTGTGGATACTGGAA	0.383			O	BRAF	pilocytic astrocytoma								6	18					0	0	1	0	0	A	138589815	G	A	138589815	3	1	142	1	0	0	0	0	1	0	0	0	8286	1348	47	2	2435	2	KIAA1549	7	138589815	Missense_Mutation	SNP	G	TCGA-DU-A76K-01A-11D-A33T-08	9114930	138589815	20548848	16	22176											
EPHB6	2051	broad.mit.edu	37	7	142561851	142561851	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr7:142561851G>A	ENST00000392957.2	+	7	1080	c.293G>A	c.(292-294)cGc>cAc	p.R98H	EPHB6_ENST00000442129.1_Missense_Mutation_p.R98H|EPHB6_ENST00000411471.2_Intron	NM_004445.3	NP_004436.3	O15197	EPHB6_HUMAN	EPH receptor B6	98						extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					GTGGAGCGGCGCGGGGCCCAG	0.652													115	399					0	0	1	0	0	A	142561851	G	A	142561851	3	1	142	1	0	0	0	0	1	0	0	0	5206	1087	38	1	303	1	EPHB6	7	142561851	Missense_Mutation	SNP	G	TCGA-DU-A76K-01A-11D-A33T-08	3972036	142561851	16576812	17	22177											
OR9A2	135924	broad.mit.edu	37	7	142723328	142723328	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr7:142723328G>A	ENST00000350513.2	-	1	954	c.892C>T	c.(892-894)Cga>Tga	p.R298*		NM_001001658.1	NP_001001658.1	Q8NGT5	OR9A2_HUMAN	olfactory receptor, family 9, subfamily A, member 2	298					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R298G(1)		central_nervous_system(3)|endometrium(4)|large_intestine(1)|lung(14)|skin(3)	25	Melanoma(164;0.059)					ATCCCATCTCGGAGGGCCTCT	0.428													80	251					0	0	1	0	0	A	142723328	G	A	142723328	4	1	142	1	0	0	0	0	0	1	0	0	11295	1124	39	1	44	1	OR9A2	7	142723328	Nonsense_Mutation	SNP	G	TCGA-DU-A76K-01A-11D-A33T-08	161477	142723328	16415335	18	22178											
ST18	9705	broad.mit.edu	37	8	53092709	53092709	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr8:53092709A>T	ENST00000276480.7	-	9	933	c.250T>A	c.(250-252)Ttg>Atg	p.L84M		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)	84						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				TGTGTTTCCAAGGGGCCATCG	0.522													121	244					0	0	1	0	0	T	53092709	A	T	53092709	3	4	142	1	0	0	0	0	1	0	0	0	15268	69	3	5	2965	5	ST18	8	53092709	Missense_Mutation	SNP	A	TCGA-DU-A76K-01A-11D-A33T-08		53092709	93271313	19	22179											
MMP16	4325	broad.mit.edu	37	8	89068438	89068438	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr8:89068438C>G	ENST00000286614.6	-	8	1572	c.1291G>C	c.(1291-1293)Gga>Cga	p.G431R		NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	431	Hemopexin-like 2.				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						ATTCCACTTCCAAGGGTTATC	0.413													25	208					0	0	1	0	0	G	89068438	C	G	89068438	3	3	142	1	0	0	0	0	1	0	0	0	9703	603	21	5	544	5	MMP16	8	89068438	Missense_Mutation	SNP	C	TCGA-DU-A76K-01A-11D-A33T-08	35975729	89068438	57295584	20	22180											
TNFRSF11B	4982	broad.mit.edu	37	8	119945527	119945527	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr8:119945527A>C	ENST00000297350.4	-	2	421	c.43T>G	c.(43-45)Tcc>Gcc	p.S15A		NM_002546.3	NP_002537.3	O00300	TR11B_HUMAN	tumor necrosis factor receptor superfamily, member 11b	15					apoptosis|skeletal system development		cytokine activity|receptor activity			breast(1)|central_nervous_system(3)|endometrium(4)|large_intestine(6)|lung(7)|prostate(3)|skin(1)	25	all_cancers(13;3.71e-26)|Lung NSC(37;1.69e-07)|Ovarian(258;0.018)|all_neural(195;0.0592)|Hepatocellular(40;0.234)		STAD - Stomach adenocarcinoma(47;0.00193)			CACTTAATGGAGATGTCCAGA	0.423													74	175					0	0	1	0	0	C	119945527	A	C	119945527	3	2	142	1	0	0	0	0	1	0	0	0	16345	304	11	5	1178	5	TNFRSF11B	8	119945527	Missense_Mutation	SNP	A	TCGA-DU-A76K-01A-11D-A33T-08	30877089	119945527	26418495	21	22181											
FER1L6	654463	broad.mit.edu	37	8	125035786	125035786	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr8:125035786G>A	ENST00000522917.1	+	18	2442	c.2236G>A	c.(2236-2238)Gcg>Acg	p.A746T	FER1L6_ENST00000399018.1_Missense_Mutation_p.A746T|FER1L6-AS1_ENST00000518567.1_RNA	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	746						integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			TTCCCCTGTCGCGGGGCAGAT	0.493													35	107					0	0	1	0	0	A	125035786	G	A	125035786	3	1	142	1	0	0	0	0	1	0	0	0	5848	1087	38	1	2302	1	FER1L6	8	125035786	Missense_Mutation	SNP	G	TCGA-DU-A76K-01A-11D-A33T-08	5090259	125035786	21328236	22	22182											
USP20	10868	broad.mit.edu	37	9	132642504	132642504	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr9:132642504G>T	ENST00000315480.4	+	25	2855	c.2697G>T	c.(2695-2697)gaG>gaT	p.E899D	USP20_ENST00000358355.1_Missense_Mutation_p.E899D|USP20_ENST00000372429.3_Missense_Mutation_p.E899D|USP20_ENST00000472108.1_3'UTR			Q9Y2K6	UBP20_HUMAN	ubiquitin specific peptidase 20	899					endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|ubiquitin thiolesterase activity|zinc ion binding			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|urinary_tract(1)	11		Ovarian(14;0.00556)				TGGGCCCAGAGAACCTGCACG	0.642													14	34					9.31168e-06	9.43261e-06	1	1	0	T	132642504	G	T	132642504	3	4	142	1	0	0	0	0	1	0	0	0	17112	933	33	4	2787	4	USP20	9	132642504	Missense_Mutation	SNP	G	TCGA-DU-A76K-01A-11D-A33T-08		132642504	8570927	23	22183											
BMI1	648	broad.mit.edu	37	10	22616921	22616925	+	Frame_Shift_Del	DEL	AAGAT	AAGAT	-			TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr10:22616921_22616925delAAGAT	ENST00000376663.3	+	6	864_868	c.359_363delAAGAT	c.(358-363)gaagatfs	p.ED120fs	COMMD3-BMI1_ENST00000602390.1_Frame_Shift_Del_p.ED263fs	NM_005180.8	NP_005171.4			BMI1 polycomb ring finger oncogene											breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(2)|urinary_tract(1)	12						GTTGCAGATGAAGATAAGAGAATTA	0.288													58	122	---	---	---	---						-	22616925	AAGAT	-	22616921	7	5	142	1	0	1	0	1	0	0	0	0	1454	246	9	0	377	0	BMI1	10	22616921	Frame_Shift_Del	DEL	AAGAT	TCGA-DU-A76K-01A-11D-A33T-08		22616921	112917826	24	22184											
MYPN	84665	broad.mit.edu	37	10	69882079	69882079	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr10:69882079T>C	ENST00000358913.5	+	2	1372	c.884T>C	c.(883-885)aTt>aCt	p.I295T	MYPN_ENST00000373675.3_Missense_Mutation_p.I295T|MYPN_ENST00000354393.2_Intron|MYPN_ENST00000540630.1_Missense_Mutation_p.I295T	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN	myopalladin	295	Ig-like 1.|Interaction with CARP.					nucleus|sarcomere	actin binding			breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						GTGGTAGGAATTCCACCACCT	0.453													35	66					0	0	1	0	0	C	69882079	T	C	69882079	3	2	142	1	0	0	0	0	1	0	0	0	10146	1493	52	3	886	3	MYPN	10	69882079	Missense_Mutation	SNP	T	TCGA-DU-A76K-01A-11D-A33T-08	47265158	69882079	65652668	25	22185											
CDH23	64072	broad.mit.edu	37	10	73563115	73563115	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr10:73563115G>A	ENST00000224721.6	+	54	7830	c.7825G>A	c.(7825-7827)Gtc>Atc	p.V2609I	CDH23_ENST00000398788.3_Missense_Mutation_p.V364I|CDH23_ENST00000475158.1_3'UTR	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	2604	Cadherin 24.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						GGTCATCGACGTCAATGACAA	0.607													6	10					0	0	1	0	0	A	73563115	G	A	73563115	3	1	142	1	0	0	0	0	1	0	0	0	3130	1145	40	1	8369	1	CDH23	10	73563115	Missense_Mutation	SNP	G	TCGA-DU-A76K-01A-11D-A33T-08	3681036	73563115	61971632	26	22186											
SEMA4G	57715	broad.mit.edu	37	10	102743064	102743066	+	In_Frame_Del	DEL	CCA	CCA	-			TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr10:102743064_102743066delCCA	ENST00000210633.3	+	14	1786_1788	c.1708_1710delCCA	c.(1708-1710)ccadel	p.P573del	MRPL43_ENST00000370241.3_Intron|MRPL43_ENST00000370242.4_Intron|RP11-108L7.4_ENST00000447344.1_RNA|SEMA4G_ENST00000517724.1_Intron|MRPL43_ENST00000342071.1_Intron|MRPL43_ENST00000299179.5_Intron|MRPL43_ENST00000318325.2_Intron|SEMA4G_ENST00000370250.4_In_Frame_Del_p.P568del			Q9NTN9	SEM4G_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4G	568	Ig-like C2-type.				cell differentiation|nervous system development	integral to membrane	receptor activity			breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Colorectal(252;0.234)		Epithelial(162;3.71e-09)|all cancers(201;2.1e-07)		CCCCACAGGGCCACCACCACCAC	0.616													2	4	---	---	---	---						-	102743066	CCA	-	102743064	7	5	142	1	0	1	0	1	0	0	0	0	14090	739	26	0	1762	0	SEMA4G	10	102743064	In_Frame_Del	DEL	CCA	TCGA-DU-A76K-01A-11D-A33T-08	29179949	102743064	32791683	27	22187											
TAF10	6881	broad.mit.edu	37	11	6633269	6633269	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr11:6633269delC	ENST00000299424.4	-	1	629	c.152delG	c.(151-153)ggafs	p.G51fs	TAF10_ENST00000531760.1_Intron	NM_006284.3	NP_006275.1	Q12962	TAF10_HUMAN	TAF10 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 30kDa	51					histone deubiquitination|histone H3 acetylation|protein homooligomerization|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	PCAF complex|perinuclear region of cytoplasm|STAGA complex|transcription factor TFIID complex|transcription factor TFTC complex	estrogen receptor binding|RNA polymerase binding|transcription coactivator activity						Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.0481)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.129)		AGCCCCAGGTCCCCCCGCTGT	0.816													2	4	---	---	---	---						-	6633269	C	-	6633269	7	5	142	1	0	1	0	1	0	0	0	0	15571	855	30	0	524	0	TAF10	11	6633269	Frame_Shift_Del	DEL	C	TCGA-DU-A76K-01A-11D-A33T-08		6633269	128373247	28	22188											
TCN1	6947	broad.mit.edu	37	11	59620692	59620692	+	Silent	SNP	G	G	A			TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr11:59620692G>A	ENST00000257264.3	-	8	1328	c.1224C>T	c.(1222-1224)ggC>ggT	p.G408G		NM_001062.3	NP_001053.2	P20061	TCO1_HUMAN	transcobalamin I (vitamin B12 binding protein, R binder family)	408					cobalamin metabolic process|cobalamin transport|cobalt ion transport	extracellular region	cobalamin binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29		all_epithelial(135;0.198)			Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TCAGTGGTTCGCCTCCACTCA	0.522													159	367					0	0	1	0	0	A	59620692	G	A	59620692	2	1	142	1	0	0	0	0	0	0	0	1	15766	1074	38	1		1	TCN1	11	59620692	Silent	SNP	G	TCGA-DU-A76K-01A-11D-A33T-08	52987423	59620692	75385824	29	22189											
ADAMTS8	11095	broad.mit.edu	37	11	130275913	130275913	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr11:130275913G>A	ENST00000257359.6	-	9	2916	c.2210C>T	c.(2209-2211)aCg>aTg	p.T737M		NM_007037.4	NP_008968.4	Q9UP79	ATS8_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 8	737	Spacer.				negative regulation of cell proliferation|proteolysis	proteinaceous extracellular matrix	heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)		CCCATCAGCCGTCTTCAGCGC	0.567													9	223					0	0	1	0	0	A	130275913	G	A	130275913	3	1	142	1	0	0	0	0	1	0	0	0	271	1145	40	1	463	1	ADAMTS8	11	130275913	Missense_Mutation	SNP	G	TCGA-DU-A76K-01A-11D-A33T-08	70655221	130275913	4730603	30	22190											
RASAL1	8437	broad.mit.edu	37	12	113552605	113552605	+	Splice_Site	SNP	C	C	T			TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr12:113552605C>T	ENST00000546530.1	-	13	1466	c.1181G>A	c.(1180-1182)cGg>cAg	p.R394Q	RASAL1_ENST00000548055.1_Splice_Site_p.R394Q|RASAL1_ENST00000418411.2_5'UTR|RASAL1_ENST00000261729.5_Splice_Site_p.R394Q|RASAL1_ENST00000446861.3_Splice_Site_p.R394Q	NM_001193520.1|NM_004658.2	NP_001180449.1|NP_004649.2	O95294	RASL1_HUMAN	RAS protein activator like 1 (GAP1 like)	394	Ras-GAP.				intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	metal ion binding|phospholipid binding|Ras GTPase activator activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2)	43						CTTTGCTCACCGGGTGCGGCC	0.622													161	484					0	0	1	0	0	T	113552605	C	T	113552605	5	4	142	1	0	0	0	0	0	0	1	0	13115	666	23	1	1273	1	RASAL1	12	113552605	Splice_Site	SNP	C	TCGA-DU-A76K-01A-11D-A33T-08		113552605	20299290	31	22191											
HNF1A	6927	broad.mit.edu	37	12	121432064	121432064	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr12:121432064C>T	ENST00000257555.6	+	4	1037	c.811C>T	c.(811-813)Cgg>Tgg	p.R271W	HNF1A_ENST00000543427.1_Missense_Mutation_p.R154W|HNF1A_ENST00000402929.1_Missense_Mutation_p.R271W|HNF1A_ENST00000544413.1_Missense_Mutation_p.R271W|HNF1A_ENST00000541395.1_Missense_Mutation_p.R271W|HNF1A_ENST00000538626.1_Intron|HNF1A_ENST00000400024.2_Missense_Mutation_p.R271W			P20823	HNF1A_HUMAN	HNF1 homeobox A	271	Interaction with DNA.		R -> W (in MODY3).		glucose homeostasis|glucose import|insulin secretion|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|renal glucose absorption	cytoplasm|nucleus|protein complex	DNA binding|protein dimerization activity|protein heterodimerization activity|protein homodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	p.K273fs*41(1)|p.R271W(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(8)|large_intestine(19)|liver(175)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	221	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					GTTTGCCAACCGGCGCAAAGA	0.667									Hepatic Adenoma, Familial Clustering of				14	31					0	0	1	0	0	T	121432064	C	T	121432064	3	4	142	1	0	0	0	0	1	0	0	0	7292	643	23	1	825	1	HNF1A	12	121432064	Missense_Mutation	SNP	C	TCGA-DU-A76K-01A-11D-A33T-08	7879459	121432064	12419831	32	22192											
DDX51	317781	broad.mit.edu	37	12	132628264	132628264	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr12:132628264delC	ENST00000397333.3	-	2	533	c.495delG	c.(493-495)gggfs	p.G165fs		NM_175066.3	NP_778236.2	Q8N8A6	DDX51_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 51	165					rRNA processing	nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			endometrium(1)|lung(5)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	10	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.241)		OV - Ovarian serous cystadenocarcinoma(86;7.59e-08)|Epithelial(86;3.62e-07)|all cancers(50;2.13e-05)		TCTTCCCGAACCCCCCCAGCA	0.756													2	4	---	---	---	---						-	132628264	C	-	132628264	7	5	142	1	0	1	0	1	0	0	0	0	4392	494	18	0	1561	0	DDX51	12	132628264	Frame_Shift_Del	DEL	C	TCGA-DU-A76K-01A-11D-A33T-08	11196200	132628264	1223631	33	22193											
ARL11	115761	broad.mit.edu	37	13	50204751	50204751	+	Silent	SNP	C	C	T			TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr13:50204751C>T	ENST00000282026.1	+	2	503	c.168C>T	c.(166-168)caC>caT	p.H56H	ARL11_ENST00000490932.1_Intron	NM_138450.5	NP_612459.1	Q969Q4	ARL11_HUMAN	ADP-ribosylation factor-like 11	56					small GTPase mediated signal transduction	intracellular	GTP binding|protein binding			kidney(1)|large_intestine(4)|ovary(1)	6		Lung NSC(96;2.1e-05)|Breast(56;0.00015)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.119)|Kidney(9;0.169)	GBM - Glioblastoma multiforme(99;1.67e-09)		CTCCTGGGCACGTGTCACTGA	0.602													40	83					0	0	1	0	0	T	50204751	C	T	50204751	2	4	142	1	0	0	0	0	0	0	0	1	924	535	19	1		1	ARL11	13	50204751	Silent	SNP	C	TCGA-DU-A76K-01A-11D-A33T-08		50204751	64965127	34	22194											
SLC12A1	6557	broad.mit.edu	37	15	48533740	48533740	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr15:48533740C>A	ENST00000396577.3	+	10	1459	c.1244C>A	c.(1243-1245)aCc>aAc	p.T415N	SLC12A1_ENST00000380993.3_Missense_Mutation_p.T415N|SLC12A1_ENST00000558405.1_Missense_Mutation_p.T415N	NM_001184832.1	NP_001171761.1	Q13621	S12A1_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 1	415					potassium ion transport|sodium ion transport	integral to membrane|membrane fraction	sodium:potassium:chloride symporter activity			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1)	59		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	CCCAGAGGAACCATGCTGGCC	0.428													92	280					5.28548e-51	5.57118e-51	1	1	0	A	48533740	C	A	48533740	3	1	142	1	0	0	0	0	1	0	0	0	14437	507	18	5	1378	5	SLC12A1	15	48533740	Missense_Mutation	SNP	C	TCGA-DU-A76K-01A-11D-A33T-08		48533740	53997652	35	22195											
FUS	2521	broad.mit.edu	37	16	31195601	31195601	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr16:31195601A>G	ENST00000254108.7	+	5	512	c.407A>G	c.(406-408)tAt>tGt	p.Y136C	FUS_ENST00000568685.1_Missense_Mutation_p.Y136C|FUS_ENST00000380244.3_Missense_Mutation_p.Y135C	NM_001170634.1|NM_001170937.1|NM_004960.3	NP_001164105.1|NP_001164408.1|NP_004951.1	P35637	FUS_HUMAN	fused in sarcoma	136	Gln/Gly/Ser/Tyr-rich.				cell death|nuclear mRNA splicing, via spliceosome	nucleoplasm	DNA binding|nucleotide binding|protein binding|RNA binding|zinc ion binding		FUS/ERG(167)|FUS/DDIT3(631)|FUS/FEV(2)|FUS/ATF1(4)|FUS/CREB3L1(6)|FUS/CREB3L2(158)	breast(3)|endometrium(5)|kidney(3)|large_intestine(1)|lung(5)|prostate(3)|skin(1)|urinary_tract(1)	22		Renal(780;0.000219)|Breast(268;0.00957)|Hepatocellular(780;0.121)		GBM - Glioblastoma multiforme(240;2.31e-05)|Kidney(780;0.000209)		CAGCCTAGCTATGGTGGACAG	0.522			T	"DDIT3, ERG, FEV, ATF1, CREB3L2, CREB3L1"	"liposarcoma, AML, Ewing sarcoma, angiomatoid fibrous histiocytoma, fibromyxoid sarcoma"								60	190					0	0	1	0	0	G	31195601	A	G	31195601	3	3	142	1	0	0	0	0	1	0	0	0	6135	449	16	3	425	3	FUS	16	31195601	Missense_Mutation	SNP	A	TCGA-DU-A76K-01A-11D-A33T-08		31195601	59159152	36	22196											
MYO1C	4641	broad.mit.edu	37	17	1371366	1371366	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr17:1371366G>A	ENST00000359786.5	-	28	3136	c.2812C>T	c.(2812-2814)Cgg>Tgg	p.R938W	MYO1C_ENST00000575158.1_Missense_Mutation_p.R903W|MYO1C_ENST00000438665.2_Missense_Mutation_p.R919W|MYO1C_ENST00000545534.2_Missense_Mutation_p.R914W|MYO1C_ENST00000361007.2_Missense_Mutation_p.R903W	NM_001080779.1	NP_001074248.1	O00159	MYO1C_HUMAN	myosin IC	938					mRNA transport|protein transport|transmembrane transport	basal plasma membrane|cytoplasm|filamentous actin|lateral plasma membrane|nuclear pore|nucleolus|nucleoplasm|stereocilium membrane	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	17				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		AGCAGCTGCCGGGAGCGAGGC	0.627													28	78					0	0	1	0	0	A	1371366	G	A	1371366	3	1	142	1	0	0	0	0	1	0	0	0	10118	1115	39	1	399	1	MYO1C	17	1371366	Missense_Mutation	SNP	G	TCGA-DU-A76K-01A-11D-A33T-08		1371366	79823844	37	22197											
DNAH2	146754	broad.mit.edu	37	17	7646596	7646597	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr17:7646596_7646597insT	ENST00000570791.1	+	14	2371_2372	c.2286_2287insT	c.(2287-2289)tttfs	p.F763fs	DNAH2_ENST00000082259.3_Frame_Shift_Ins_p.F763fs|DNAH2_ENST00000572933.1_Intron|DNAH2_ENST00000389173.2_Intron			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	0	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CGTCATTTTACTTTTTTTTTTC	0.342													2	4	---	---	---	---						T	7646597	-	T	7646596	7	5	142	1	0	1	1	0	0	0	0	0	4630	580	20	0		0	DNAH2	17	7646596	Frame_Shift_Ins	INS	-	TCGA-DU-A76K-01A-11D-A33T-08	6275230	7646596	73548614	38	22198											
PRPSAP2	5636	broad.mit.edu	37	17	18781090	18781090	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr17:18781090G>A	ENST00000268835.2	+	6	602	c.319G>A	c.(319-321)Gtg>Atg	p.V107M	PRPSAP2_ENST00000536323.1_Missense_Mutation_p.V21M|PRPSAP2_ENST00000419071.2_Missense_Mutation_p.V67M|PRPSAP2_ENST00000542013.1_Missense_Mutation_p.V107M	NM_002767.3	NP_002758.1	O60256	KPRB_HUMAN	phosphoribosyl pyrophosphate synthetase-associated protein 2	107					nucleotide biosynthetic process		enzyme inhibitor activity|magnesium ion binding|ribose phosphate diphosphokinase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11						CATCATTGGCGTGATACCCTA	0.458													55	165					0	0	1	0	0	A	18781090	G	A	18781090	3	1	142	1	0	0	0	0	1	0	0	0	12634	1145	40	1	333	1	PRPSAP2	17	18781090	Missense_Mutation	SNP	G	TCGA-DU-A76K-01A-11D-A33T-08	11134494	18781090	62414120	39	22199											
UNC45B	146862	broad.mit.edu	37	17	33486482	33486482	+	Silent	SNP	G	G	A	rs151107152	byFrequency	TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr17:33486482G>A	ENST00000268876.5	+	8	994	c.897G>A	c.(895-897)gcG>gcA	p.A299A	UNC45B_ENST00000591048.1_Silent_p.A299A|UNC45B_ENST00000394570.2_Silent_p.A299A|UNC45B_ENST00000433649.1_Silent_p.A299A|UNC45B_ENST00000378449.1_Silent_p.A299A	NM_173167.2	NP_775259.1	Q8IWX7	UN45B_HUMAN	unc-45 homolog B (C. elegans)	299					cell differentiation|muscle organ development	cytosol	binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				GGGATCAGGCGCTGAACCTGC	0.512													129	244					0	0	1	0	0	A	33486482	G	A	33486482	2	1	142	1	0	0	0	0	0	0	0	1	17049	1074	38	1		1	UNC45B	17	33486482	Silent	SNP	G	TCGA-DU-A76K-01A-11D-A33T-08	14705392	33486482	47708728	40	22200											
KRTAP4-2	85291	broad.mit.edu	37	17	39334113	39334113	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr17:39334113G>A	ENST00000377726.2	-	1	347	c.304C>T	c.(304-306)Cgc>Tgc	p.R102C		NM_033062.3	NP_149051	Q9BYR5	KRA42_HUMAN	keratin associated protein 4-2	102	20 X 5 AA repeats OF C-C-[GRQVS]-[SPT]- [VSTQ].					keratin filament				kidney(2)|lung(4)|upper_aerodigestive_tract(1)	7		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			CAGCTGGGGCGGCAGCAGGTG	0.657													67	138					0	0	1	0	0	A	39334113	G	A	39334113	3	1	142	1	0	0	0	0	1	0	0	0	8594	1116	39	1	110	1	KRTAP4-2	17	39334113	Missense_Mutation	SNP	G	TCGA-DU-A76K-01A-11D-A33T-08	5847631	39334113	41861097	41	22201											
BRCA1	672	broad.mit.edu	37	17	41276094	41276094	+	Missense_Mutation	SNP	C	C	T	rs144792613		TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr17:41276094C>T	ENST00000357654.3	-	2	138	c.20G>A	c.(19-21)cGc>cAc	p.R7H	BRCA1_ENST00000351666.3_Missense_Mutation_p.R7H|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000493795.1_5'UTR|BRCA1_ENST00000354071.3_Missense_Mutation_p.R7H|BRCA1_ENST00000491747.2_Missense_Mutation_p.R7H|BRCA1_ENST00000591534.1_Intron|BRCA1_ENST00000352993.3_Missense_Mutation_p.R7H|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000471181.2_Missense_Mutation_p.R7H|BRCA1_ENST00000346315.3_Missense_Mutation_p.R7H|BRCA1_ENST00000309486.4_5'UTR|BRCA1_ENST00000468300.1_Missense_Mutation_p.R7H	NM_007294.3	NP_009225.1	P38398	BRCA1_HUMAN	breast cancer 1, early onset	7					androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading	BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle	androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		TTCTTCAACGCGAAGAGCAGA	0.308			"D, Mis, N, F, S"		ovarian	"breast, ovarian"		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)			26	70					0	0	1	0	0	T	41276094	C	T	41276094	3	4	142	1	0	0	0	0	1	0	0	0	1500	768	27	1	5729	1	BRCA1	17	41276094	Missense_Mutation	SNP	C	TCGA-DU-A76K-01A-11D-A33T-08	1941981	41276094	39919116	42	22202											
FMNL1	752	broad.mit.edu	37	17	43313573	43313573	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr17:43313573G>A	ENST00000331495.3	+	7	1021	c.685G>A	c.(685-687)Gtc>Atc	p.V229I	FMNL1_ENST00000592006.1_3'UTR|FMNL1_ENST00000328118.3_Missense_Mutation_p.V229I	NM_005892.3	NP_005883	O95466	FMNL_HUMAN	formin-like 1	229	GBD/FH3.				actin cytoskeleton organization		actin binding|Rho GTPase binding			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(12)|pancreas(1)|skin(1)|urinary_tract(2)	33						CGACGTCCACGTCTGTATTAT	0.642											OREG0024477	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	30	38					0	0	1	0	0	A	43313573	G	A	43313573	3	1	142	1	0	0	0	0	1	0	0	0	5984	1145	40	1	711	1	FMNL1	17	43313573	Missense_Mutation	SNP	G	TCGA-DU-A76K-01A-11D-A33T-08	2037479	43313573	37881637	43	22203											
C1QTNF1	114897	broad.mit.edu	37	17	77044003	77044003	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr17:77044003G>A	ENST00000339142.2	+	5	1234	c.679G>A	c.(679-681)Gac>Aac	p.D227N	C1QTNF1_ENST00000582625.1_3'UTR|C1QTNF1_ENST00000354124.3_Missense_Mutation_p.D237N|C1QTNF1_ENST00000580474.1_Missense_Mutation_p.D227N|C1QTNF1_ENST00000583904.1_Missense_Mutation_p.D227N|C1QTNF1_ENST00000311661.4_Missense_Mutation_p.D145N|C1QTNF1_ENST00000392445.2_Missense_Mutation_p.D227N|C1QTNF1_ENST00000578229.1_Missense_Mutation_p.D145N|C1QTNF1_ENST00000579760.1_Missense_Mutation_p.D227N|C1QTNF1_ENST00000580454.1_Missense_Mutation_p.D227N|C1QTNF1_ENST00000581774.1_Missense_Mutation_p.D227N	NM_198593.3	NP_940995.1	Q9BXJ1	C1QT1_HUMAN	C1q and tumor necrosis factor related protein 1	227	C1q.					collagen				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(2)	14			BRCA - Breast invasive adenocarcinoma(99;0.0294)|OV - Ovarian serous cystadenocarcinoma(97;0.201)			GCAGGTGGGCGACCGCAGCAT	0.577													23	65					0	0	1	0	0	A	77044003	G	A	77044003	3	1	142	1	0	0	0	0	1	0	0	0	1975	1058	37	1	689	1	C1QTNF1	17	77044003	Missense_Mutation	SNP	G	TCGA-DU-A76K-01A-11D-A33T-08	33730430	77044003	4151207	44	22204											
SERPINB11	89778	broad.mit.edu	37	18	61379901	61379901	+	RNA	SNP	G	G	A			TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr18:61379901G>A	ENST00000544088.1	+	0	393				SERPINB11_ENST00000382749.5_RNA|SERPINB11_ENST00000489748.1_RNA|SERPINB11_ENST00000538847.1_RNA|SERPINB11_ENST00000536691.1_RNA	NM_080475.2	NP_536723.2	Q96P15	SPB11_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 11 (gene/pseudogene)						regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			breast(1)|cervix(1)|kidney(1)|lung(3)	6		Esophageal squamous(42;0.129)				CAGGCTCTACGGGACAAAGAC	0.443													48	130					0	0	1	0	0	A	61379901	G	A	61379901	1	1	142	0	1	0	0	0	0	0	0	0	14152	1116	39	1		1	SERPINB11	18	61379901	RNA	SNP	G	TCGA-DU-A76K-01A-11D-A33T-08		61379901	16697347	45	22205											
RTTN	25914	broad.mit.edu	37	18	67816254	67816254	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr18:67816254T>C	ENST00000255674.6	-	17	2478	c.2192A>G	c.(2191-2193)gAt>gGt	p.D731G	RTTN_ENST00000454359.1_Missense_Mutation_p.D731G|RTTN_ENST00000437017.1_Missense_Mutation_p.D731G	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	731							binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				ACCCAGAGGATCTTCTGTGTC	0.368													78	166					0	0	1	0	0	C	67816254	T	C	67816254	3	2	142	1	0	0	0	0	1	0	0	0	13789	1435	50	3	4620	3	RTTN	18	67816254	Missense_Mutation	SNP	T	TCGA-DU-A76K-01A-11D-A33T-08	6436353	67816254	10260994	46	22206											
ZNF516	9658	broad.mit.edu	37	18	74091249	74091249	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr18:74091249C>T	ENST00000443185.2	-	4	3138	c.2821G>A	c.(2821-2823)Gcg>Acg	p.A941T	ZNF516_ENST00000524431.2_5'UTR	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN	zinc finger protein 516	941					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		GAGGGCTGCGCGCCAGCCCGG	0.701													28	73					0	0	1	0	0	T	74091249	C	T	74091249	3	4	142	1	0	0	0	0	1	0	0	0	18017	768	27	1	687	1	ZNF516	18	74091249	Missense_Mutation	SNP	C	TCGA-DU-A76K-01A-11D-A33T-08	6274995	74091249	3985999	47	22207											
ZFR2	23217	broad.mit.edu	37	19	3825253	3825253	+	Silent	SNP	G	G	A			TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr19:3825253G>A	ENST00000262961.4	-	7	1198	c.1188C>T	c.(1186-1188)ccC>ccT	p.P396P		NM_015174.1	NP_055989.1	Q9UPR6	ZFR2_HUMAN	zinc finger RNA binding protein 2	396						intracellular	nucleic acid binding|zinc ion binding			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(5)|pancreas(1)|prostate(1)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00514)|STAD - Stomach adenocarcinoma(1328;0.19)		TCGAGGCCACGGGTCTCTTGG	0.642													12	25					0	0	1	0	0	A	3825253	G	A	3825253	2	1	142	1	0	0	0	0	0	0	0	1	17718	1103	39	1		1	ZFR2	19	3825253	Silent	SNP	G	TCGA-DU-A76K-01A-11D-A33T-08		3825253	55303730	48	22208											
ATCAY	85300	broad.mit.edu	37	19	3913829	3913829	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr19:3913829G>A	ENST00000450849.2	+	9	1407	c.940G>A	c.(940-942)Gtc>Atc	p.V314I	ATCAY_ENST00000600960.1_Missense_Mutation_p.V314I|ATCAY_ENST00000398448.3_Missense_Mutation_p.V320I|ATCAY_ENST00000301260.6_Missense_Mutation_p.V314I	NM_033064.4	NP_149053.1	Q86WG3	ATCAY_HUMAN	ataxia, cerebellar, Cayman type	314	CRAL-TRIO.				transport		protein binding			breast(1)|endometrium(2)|kidney(2)|lung(2)	7		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00485)|STAD - Stomach adenocarcinoma(1328;0.183)		TATGGAACACGTCCAGATCCC	0.562													19	88					0	0	1	0	0	A	3913829	G	A	3913829	3	1	142	1	0	0	0	0	1	0	0	0	1076	1145	40	1	970	1	ATCAY	19	3913829	Missense_Mutation	SNP	G	TCGA-DU-A76K-01A-11D-A33T-08	88576	3913829	55215154	49	22209											
FFAR3	2865	broad.mit.edu	37	19	35849929	35849929	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr19:35849929G>A	ENST00000327809.4	+	2	338	c.137G>A	c.(136-138)cGc>cAc	p.R46H	FFAR3_ENST00000594310.1_Missense_Mutation_p.R46H	NM_005304.3	NP_005295.1	O14843	FFAR3_HUMAN	free fatty acid receptor 3	46						integral to plasma membrane	G-protein coupled receptor activity|lipid binding			endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|stomach(1)	17	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;1.29e-19)|OV - Ovarian serous cystadenocarcinoma(14;4.63e-18)|all cancers(14;5.19e-17)|LUSC - Lung squamous cell carcinoma(66;0.0221)			CTGCAGCGCCGCCCGGTGGCC	0.637													76	553					0	0	1	0	0	A	35849929	G	A	35849929	3	1	142	1	0	0	0	0	1	0	0	0	5862	1087	38	1	139	1	FFAR3	19	35849929	Missense_Mutation	SNP	G	TCGA-DU-A76K-01A-11D-A33T-08	31936100	35849929	23279054	50	22210											
ALDH16A1	126133	broad.mit.edu	37	19	49967201	49967201	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr19:49967201G>A	ENST00000293350.4	+	9	1352	c.1189G>A	c.(1189-1191)Gtg>Atg	p.V397M	CTD-3148I10.9_ENST00000599536.1_Missense_Mutation_p.G32D|ALDH16A1_ENST00000455361.2_Missense_Mutation_p.V346M|ALDH16A1_ENST00000433981.2_Missense_Mutation_p.V232M|ALDH16A1_ENST00000540132.1_Missense_Mutation_p.V234M	NM_153329.3	NP_699160.2	Q8IZ83	A16A1_HUMAN	aldehyde dehydrogenase 16 family, member A1	397							oxidoreductase activity|protein binding			cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|skin(2)|urinary_tract(3)	20		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0251)		ATGTGCCCAGGTGGAGGTGAG	0.627													78	336					0	0	1	0	0	A	49967201	G	A	49967201	3	1	142	1	0	0	0	0	1	0	0	0	485	1261	44	2	1223	2	ALDH16A1	19	49967201	Missense_Mutation	SNP	G	TCGA-DU-A76K-01A-11D-A33T-08	14117272	49967201	9161782	51	22211											
GPR32	2854	broad.mit.edu	37	19	51274418	51274418	+	Silent	SNP	C	C	T			TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr19:51274418C>T	ENST00000270590.4	+	1	698	c.561C>T	c.(559-561)ggC>ggT	p.G187G		NM_001506.1	NP_001497.1	O75388	GPR32_HUMAN	G protein-coupled receptor 32	187						integral to plasma membrane	N-formyl peptide receptor activity			breast(4)|endometrium(4)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	29		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		AATGGAATGGCTGTACGCACT	0.572													36	100					0	0	1	0	0	T	51274418	C	T	51274418	2	4	142	1	0	0	0	0	0	0	0	1	6728	784	28	2		2	GPR32	19	51274418	Silent	SNP	C	TCGA-DU-A76K-01A-11D-A33T-08	1307217	51274418	7854565	52	22212											
KIR2DL4	3805	broad.mit.edu	37	19	55325146	55325146	+	Splice_Site	SNP	T	T	C			TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr19:55325146T>C	ENST00000396284.2	+	7	873	c.873T>C	c.(871-873)gaT>gaC	p.D291D	KIR2DL4_ENST00000345540.5_Splice_Site_p.D236D|KIR2DL4_ENST00000463062.1_3'UTR|KIR3DL1_ENST00000538269.1_Intron|KIR2DL4_ENST00000346587.4_Splice_Site_p.D141D|KIR2DL4_ENST00000357494.4_Splice_Site_p.D219D|KIR3DL1_ENST00000541392.1_Intron|KIR2DL4_ENST00000359085.4_Splice_Site_p.M271T|KIR3DL1_ENST00000402254.2_Intron|KIR2DL4_ENST00000396293.1_Splice_Site_p.D124D					killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 4											NS(1)|breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(2)|ovary(2)|prostate(3)|skin(1)	17				GBM - Glioblastoma multiforme(193;0.0192)		CTCCTACAGATGCTGCTGTAA	0.522													24	133					0	0	1	0	0	C	55325146	T	C	55325146	5	2	142	1	0	0	0	0	0	0	1	0	8361	1478	51	3	838	3	KIR2DL4	19	55325146	Splice_Site	SNP	T	TCGA-DU-A76K-01A-11D-A33T-08	4050728	55325146	3803837	53	22213											
VPS16	64601	broad.mit.edu	37	20	2844622	2844622	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr20:2844622G>T	ENST00000380445.3	+	16	1576	c.1504G>T	c.(1504-1506)Gat>Tat	p.D502Y	VPS16_ENST00000380443.3_Missense_Mutation_p.D188Y|VPS16_ENST00000380469.3_Missense_Mutation_p.D358Y|VPS16_ENST00000481812.2_3'UTR	NM_022575.2	NP_072097.2	Q9H269	VPS16_HUMAN	vacuolar protein sorting 16 homolog (S. cerevisiae)	502					intracellular protein transport	early endosome|HOPS complex|late endosome membrane|lysosomal membrane|recycling endosome				NS(3)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	37						CTCAGATGAGGATGTGGCTCG	0.572													12	232					0.000978159	0.000978159	1	1	0	T	2844622	G	T	2844622	3	4	142	1	0	0	0	0	1	0	0	0	17253	1174	41	5	1566	5	VPS16	20	2844622	Missense_Mutation	SNP	G	TCGA-DU-A76K-01A-11D-A33T-08		2844622	60180898	54	22214											
TFAP2C	7022	broad.mit.edu	37	20	55206327	55206327	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr20:55206327C>G	ENST00000201031.2	+	2	358	c.115C>G	c.(115-117)Ctc>Gtc	p.L39V	TFAP2C_ENST00000544508.1_5'UTR	NM_003222.3	NP_003213.1	Q92754	AP2C_HUMAN	transcription factor AP-2 gamma (activating enhancer binding protein 2 gamma)	39	Gln/Pro-rich (transactivation domain).				cell-cell signaling|male gonad development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	13			Colorectal(105;0.229)			CGGGCAGCACCTCTACAGCCC	0.637													50	161					0	0	1	0	0	G	55206327	C	G	55206327	3	3	142	1	0	0	0	0	1	0	0	0	15849	681	24	4	121	4	TFAP2C	20	55206327	Missense_Mutation	SNP	C	TCGA-DU-A76K-01A-11D-A33T-08	52361705	55206327	7819193	55	22215											
LIPI	149998	broad.mit.edu	37	21	15517083	15517083	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr21:15517083T>C	ENST00000344577.2	-	9	1244	c.1219A>G	c.(1219-1221)Att>Gtt	p.I407V	LIPI_ENST00000536861.1_Missense_Mutation_p.I386V	NM_198996.2	NP_945347.1	Q6XZB0	LIPI_HUMAN	lipase, member I	386					lipid catabolic process	extracellular region|extracellular space|membrane|plasma membrane	heparin binding|phospholipase activity			endometrium(1)|kidney(13)|large_intestine(9)|liver(3)|lung(24)|ovary(3)|urinary_tract(1)	54				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166)		TGAGCAAGAATCTTGACTTCT	0.294													107	121					0	0	1	0	0	C	15517083	T	C	15517083	3	2	142	1	0	0	0	0	1	0	0	0	8866	1435	50	3	234	3	LIPI	21	15517083	Missense_Mutation	SNP	T	TCGA-DU-A76K-01A-11D-A33T-08		15517083	32612812	56	22216											
DOPEY2	9980	broad.mit.edu	37	21	37617841	37617841	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr21:37617841C>T	ENST00000399151.3	+	19	3648	c.3563C>T	c.(3562-3564)gCt>gTt	p.A1188V		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	1188					endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						AAGACGCAGGCTTCTGAGTCG	0.637													30	98					0	0	1	0	0	T	37617841	C	T	37617841	3	4	142	1	0	0	0	0	1	0	0	0	4735	797	28	2	3633	2	DOPEY2	21	37617841	Missense_Mutation	SNP	C	TCGA-DU-A76K-01A-11D-A33T-08	22100758	37617841	10512054	57	22217											
DEPDC5	9681	broad.mit.edu	37	22	32293599	32293599	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr22:32293599delC	ENST00000400246.1	+	40	4477	c.4335delC	c.(4333-4335)atcfs	p.I1445fs	DEPDC5_ENST00000382111.2_Frame_Shift_Del_p.I1445fs|DEPDC5_ENST00000400248.2_Frame_Shift_Del_p.I1414fs|DEPDC5_ENST00000382105.2_3'UTR|DEPDC5_ENST00000382112.3_Frame_Shift_Del_p.I1436fs|DEPDC5_ENST00000539165.1_Frame_Shift_Del_p.I262fs|DEPDC5_ENST00000266091.3_Frame_Shift_Del_p.I1423fs|DEPDC5_ENST00000400249.2_Frame_Shift_Del_p.I1414fs|DEPDC5_ENST00000535622.1_Frame_Shift_Del_p.I1345fs			O75140	DEPD5_HUMAN	DEP domain containing 5	1414					intracellular signal transduction					breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						CACTCAACATCAGCTGCTTGC	0.527													22	218	---	---	---	---						-	32293599	C	-	32293599	7	5	142	1	0	1	0	1	0	0	0	0	4470	816	29	0	4480	0	DEPDC5	22	32293599	Frame_Shift_Del	DEL	C	TCGA-DU-A76K-01A-11D-A33T-08		32293599	19010967	58	22218											
MTMR1	8776	broad.mit.edu	37	X	149898642	149898642	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chrX:149898642A>G	ENST00000445323.2	+	7	738	c.617A>G	c.(616-618)gAa>gGa	p.E206G	MTMR1_ENST00000451863.2_Missense_Mutation_p.E198G|MTMR1_ENST00000542156.1_Missense_Mutation_p.E198G|MTMR1_ENST00000370390.3_Missense_Mutation_p.E198G|MTMR1_ENST00000541925.1_Missense_Mutation_p.E104G|MTMR1_ENST00000544228.1_Missense_Mutation_p.E198G|MTMR1_ENST00000538506.1_Missense_Mutation_p.E85G			Q13613	MTMR1_HUMAN	myotubularin related protein 1	198						plasma membrane	protein tyrosine phosphatase activity			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					GGGATATTTGAAAACCTCAAC	0.378													53	49					0	0	1	0	0	G	149898642	A	G	149898642	3	3	142	1	0	0	0	0	1	0	0	0	9986	246	9	3	615	3	MTMR1	23	149898642	Missense_Mutation	SNP	A	TCGA-DU-A76K-01A-11D-A33T-08		149898642	5371918	59	22219											
PDZD4	57595	broad.mit.edu	37	X	153069951	153069951	+	Silent	SNP	G	G	A			TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chrX:153069951G>A	ENST00000164640.4	-	8	1358	c.1167C>T	c.(1165-1167)gtC>gtT	p.V389V	PDZD4_ENST00000544474.1_Silent_p.V280V|PDZD4_ENST00000393758.2_Silent_p.V314V	NM_032512.2	NP_115901.2	Q76G19	PDZD4_HUMAN	PDZ domain containing 4	389						cell cortex				breast(3)|cervix(1)|endometrium(5)|lung(13)|skin(1)	23	all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CGTTGCGGTTGACGTCCAGGG	0.632													34	21					0	0	1	0	0	A	153069951	G	A	153069951	2	1	142	1	0	0	0	0	0	0	0	1	11750	1277	45	2		2	PDZD4	23	153069951	Silent	SNP	G	TCGA-DU-A76K-01A-11D-A33T-08	3171309	153069951	2200609	60	22220											
DEPDC1	55635	broad.mit.edu	37	1	68947217	68947217	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A76L-01A-11D-A32B-08	TCGA-DU-A76L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cd8a995-4961-46b1-9c3d-3057adbba25b	fbcafe3c-94fb-4008-82d9-45ee3e0956ec	g.chr1:68947217C>T	ENST00000456315.2	-	9	1955	c.1841G>A	c.(1840-1842)cGt>cAt	p.R614H	DEPDC1_ENST00000370966.5_Missense_Mutation_p.R330H|RP4-694A7.2_ENST00000425820.1_RNA	NM_001114120.1	NP_001107592.1	Q5TB30	DEP1A_HUMAN	DEP domain containing 1	614	Interaction with ZNF224.				intracellular signal transduction|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	GTPase activator activity|protein binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(397;7.21e-36)		AAGCTTTCTACGATTTGGTGG	0.423													8	18					0	0	1	0	0	T	68947217	C	T	68947217	3	4	143	1	0	0	0	0	1	0	0	0	4467	536	19	1	610	1	DEPDC1	1	68947217	Missense_Mutation	SNP	C	TCGA-DU-A76L-01A-11D-A32B-08		68947217	180303404	1	22221											
LCE3A	353142	broad.mit.edu	37	1	152595412	152595412	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-A76L-01A-11D-A32B-08	TCGA-DU-A76L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cd8a995-4961-46b1-9c3d-3057adbba25b	fbcafe3c-94fb-4008-82d9-45ee3e0956ec	g.chr1:152595412C>A	ENST00000335674.1	-	1	167	c.168G>T	c.(166-168)agG>agT	p.R56S		NM_178431.1	NP_848518.1	Q5TA76	LCE3A_HUMAN	late cornified envelope 3A	56					keratinization					endometrium(1)|lung(5)	6	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			AACGGTGAGACCTGCGGCATC	0.652													20	52					1.33834e-09	1.33834e-09	1	1	0	A	152595412	C	A	152595412	3	1	143	1	0	0	0	0	1	0	0	0	8708	506	18	5	104	5	LCE3A	1	152595412	Missense_Mutation	SNP	C	TCGA-DU-A76L-01A-11D-A32B-08	83648195	152595412	96655209	2	22222											
PEAR1	375033	broad.mit.edu	37	1	156876623	156876623	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A76L-01A-11D-A32B-08	TCGA-DU-A76L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cd8a995-4961-46b1-9c3d-3057adbba25b	fbcafe3c-94fb-4008-82d9-45ee3e0956ec	g.chr1:156876623G>A	ENST00000338302.3	+	7	820	c.595G>A	c.(595-597)Gat>Aat	p.D199N	PEAR1_ENST00000292357.7_Missense_Mutation_p.D199N			Q5VY43	PEAR1_HUMAN	platelet endothelial aggregation receptor 1	199						integral to membrane				breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)	43	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GGCACCCTGCGATCCCCAGAC	0.622													15	32					0	0	1	0	0	A	156876623	G	A	156876623	3	1	143	1	0	0	0	0	1	0	0	0	11759	1058	37	1	613	1	PEAR1	1	156876623	Missense_Mutation	SNP	G	TCGA-DU-A76L-01A-11D-A32B-08	4281211	156876623	92373998	3	22223											
GPA33	10223	broad.mit.edu	37	1	167042732	167042732	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A76L-01A-11D-A32B-08	TCGA-DU-A76L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cd8a995-4961-46b1-9c3d-3057adbba25b	fbcafe3c-94fb-4008-82d9-45ee3e0956ec	g.chr1:167042732C>T	ENST00000367868.3	-	2	431	c.88G>A	c.(88-90)Gtt>Att	p.V30I	GPA33_ENST00000527955.1_5'UTR	NM_005814.1	NP_005805.1	Q99795	GPA33_HUMAN	glycoprotein A33 (transmembrane)	30	Ig-like V-type.					integral to plasma membrane	receptor activity			endometrium(4)|large_intestine(1)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						GCCCGAAGAACGTCCTGCGGA	0.547													8	19					0	0	1	0	0	T	167042732	C	T	167042732	3	4	143	1	0	0	0	0	1	0	0	0	6626	536	19	1	895	1	GPA33	1	167042732	Missense_Mutation	SNP	C	TCGA-DU-A76L-01A-11D-A32B-08	10166109	167042732	82207889	4	22224											
HMCN1	83872	broad.mit.edu	37	1	186114591	186114591	+	Missense_Mutation	SNP	G	G	A	rs147296385		TCGA-DU-A76L-01A-11D-A32B-08	TCGA-DU-A76L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cd8a995-4961-46b1-9c3d-3057adbba25b	fbcafe3c-94fb-4008-82d9-45ee3e0956ec	g.chr1:186114591G>A	ENST00000271588.4	+	92	14552	c.14323G>A	c.(14323-14325)Gga>Aga	p.G4775R	HMCN1_ENST00000367492.2_Missense_Mutation_p.G4775R	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	4775	TSP type-1 5.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GACGTGTAACGGAGGGCAGAT	0.552													23	35					0	0	1	0	0	A	186114591	G	A	186114591	3	1	143	1	0	0	0	0	1	0	0	0	7261	1117	39	1	14689	1	HMCN1	1	186114591	Missense_Mutation	SNP	G	TCGA-DU-A76L-01A-11D-A32B-08	19071859	186114591	63136030	5	22225											
CACNA1S	779	broad.mit.edu	37	1	201035428	201035428	+	Missense_Mutation	SNP	C	C	T	rs146823170		TCGA-DU-A76L-01A-11D-A32B-08	TCGA-DU-A76L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cd8a995-4961-46b1-9c3d-3057adbba25b	fbcafe3c-94fb-4008-82d9-45ee3e0956ec	g.chr1:201035428C>T	ENST00000362061.3	-	21	2900	c.2674G>A	c.(2674-2676)Gtg>Atg	p.V892M	CACNA1S_ENST00000367338.3_Missense_Mutation_p.V892M	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	892					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	ATCTTCACCACGGAGATGGCA	0.662													13	48					0	0	1	0	0	T	201035428	C	T	201035428	3	4	143	1	0	0	0	0	1	0	0	0	2565	536	19	1	3043	1	CACNA1S	1	201035428	Missense_Mutation	SNP	C	TCGA-DU-A76L-01A-11D-A32B-08	14920837	201035428	48215193	6	22226											
OR2T8	343172	broad.mit.edu	37	1	248085070	248085070	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A76L-01A-11D-A32B-08	TCGA-DU-A76L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cd8a995-4961-46b1-9c3d-3057adbba25b	fbcafe3c-94fb-4008-82d9-45ee3e0956ec	g.chr1:248085070G>A	ENST00000319968.4	+	1	751	c.751G>A	c.(751-753)Gga>Aga	p.G251R		NM_001005522.1	NP_001005522.1	A6NH00	OR2T8_HUMAN	olfactory receptor, family 2, subfamily T, member 8	251					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(20)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0211)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			ACTCTTTTATGGAGCTGCCAT	0.493													17	29					0	0	1	0	0	A	248085070	G	A	248085070	3	1	143	1	0	0	0	0	1	0	0	0	11078	1349	47	2	753	2	OR2T8	1	248085070	Missense_Mutation	SNP	G	TCGA-DU-A76L-01A-11D-A32B-08	47049642	248085070	1165551	7	22227											
OR2T27	403239	broad.mit.edu	37	1	248813468	248813468	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-A76L-01A-11D-A32B-08	TCGA-DU-A76L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cd8a995-4961-46b1-9c3d-3057adbba25b	fbcafe3c-94fb-4008-82d9-45ee3e0956ec	g.chr1:248813468T>G	ENST00000344889.3	-	1	717	c.718A>C	c.(718-720)Acc>Ccc	p.T240P		NM_001001824.1	NP_001001824.1	Q8NH04	O2T27_HUMAN	olfactory receptor, family 2, subfamily T, member 27	240					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(2)|large_intestine(4)|lung(20)|skin(3)|stomach(1)	32	all_cancers(71;1.15e-05)|all_epithelial(71;5.29e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.089)|Lung NSC(105;0.0969)|Melanoma(84;0.199)	all_cancers(173;0.237)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GAGGAGCAGGTGGCCACAGCC	0.532													5	16					0	0	1	0	0	G	248813468	T	G	248813468	3	3	143	1	0	0	0	0	1	0	0	0	11069	1696	59	5	238	5	OR2T27	1	248813468	Missense_Mutation	SNP	T	TCGA-DU-A76L-01A-11D-A32B-08	728398	248813468	437153	8	22228											
SMYD5	10322	broad.mit.edu	37	2	73441468	73441468	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-A76L-01A-11D-A32B-08	TCGA-DU-A76L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cd8a995-4961-46b1-9c3d-3057adbba25b	fbcafe3c-94fb-4008-82d9-45ee3e0956ec	g.chr2:73441468T>C	ENST00000389501.4	+	1	119	c.74T>C	c.(73-75)gTc>gCc	p.V25A		NM_006062.2	NP_006053.2	Q6GMV2	SMYD5_HUMAN	SMYD family member 5	25							metal ion binding			NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	13						TCCGTGGAAGTCCGTTTCGTG	0.716													55	142					0	0	1	0	0	C	73441468	T	C	73441468	3	2	143	1	0	0	0	0	1	0	0	0	14879	1667	58	3	76	3	SMYD5	2	73441468	Missense_Mutation	SNP	T	TCGA-DU-A76L-01A-11D-A32B-08		73441468	169757905	9	22229											
EDAR	10913	broad.mit.edu	37	2	109527350	109527350	+	Silent	SNP	G	G	A			TCGA-DU-A76L-01A-11D-A32B-08	TCGA-DU-A76L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cd8a995-4961-46b1-9c3d-3057adbba25b	fbcafe3c-94fb-4008-82d9-45ee3e0956ec	g.chr2:109527350G>A	ENST00000409271.1	-	8	1151	c.708C>T	c.(706-708)ccC>ccT	p.P236P	EDAR_ENST00000258443.2_Intron|EDAR_ENST00000376651.1_Silent_p.P236P			Q9UNE0	EDAR_HUMAN	ectodysplasin A receptor	217					apoptosis|cell differentiation	integral to membrane	protein binding|transmembrane receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16						CTCCGACAGGGGGAGTTGACG	0.637													11	16					0	0	1	0	0	A	109527350	G	A	109527350	2	1	143	1	0	0	0	0	0	0	0	1	4931	1247	43	2		2	EDAR	2	109527350	Silent	SNP	G	TCGA-DU-A76L-01A-11D-A32B-08	36085882	109527350	133672023	10	22230											
SLC11A1	6556	broad.mit.edu	37	2	219259397	219259397	+	Silent	SNP	C	C	T			TCGA-DU-A76L-01A-11D-A32B-08	TCGA-DU-A76L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cd8a995-4961-46b1-9c3d-3057adbba25b	fbcafe3c-94fb-4008-82d9-45ee3e0956ec	g.chr2:219259397C>T	ENST00000233202.6	+	14	1771	c.1431C>T	c.(1429-1431)tgC>tgT	p.C477C	SLC11A1_ENST00000539932.1_Silent_p.C359C	NM_000578.3	NP_000569.3	P49279	NRAM1_HUMAN	solute carrier family 11 (proton-coupled divalent metal ion transporter), member 1	477					activation of protein kinase activity|antigen processing and presentation of peptide antigen|cadmium ion transmembrane transport|cellular cadmium ion homeostasis|cellular iron ion homeostasis|defense response to Gram-negative bacterium|defense response to protozoan|divalent metal ion export|inflammatory response|interleukin-2 production|interleukin-3 production|iron ion transport|L-arginine import|macrophage activation|MHC class II biosynthetic process|mRNA stabilization|multicellular organismal iron ion homeostasis|negative regulation of cytokine production|nitrite transport|phagocytosis|positive regulation of dendritic cell antigen processing and presentation|positive regulation of interferon-gamma production|positive regulation of phagocytosis|positive regulation of T-helper 1 type immune response|positive regulation of transcription from RNA polymerase II promoter|respiratory burst|response to interferon-gamma|response to lipopolysaccharide|T cell cytokine production|T cell proliferation involved in immune response|vacuolar acidification|wound healing	integral to plasma membrane|late endosome membrane|lysosome|phagocytic vesicle membrane|tertiary granule membrane	manganese ion transmembrane transporter activity|metal ion:hydrogen antiporter activity|protein homodimerization activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	19		Renal(207;0.0474)		Epithelial(149;1.16e-06)|all cancers(144;0.000195)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGCTAGTCTGCGCCATCAACC	0.617													12	88					0	0	1	0	0	T	219259397	C	T	219259397	2	4	143	1	0	0	0	0	0	0	0	1	14435	776	27	1		1	SLC11A1	2	219259397	Silent	SNP	C	TCGA-DU-A76L-01A-11D-A32B-08	109732047	219259397	23939976	11	22231											
RARB	5915	broad.mit.edu	37	3	25215976	25215976	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-A76L-01A-11D-A32B-08	TCGA-DU-A76L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cd8a995-4961-46b1-9c3d-3057adbba25b	fbcafe3c-94fb-4008-82d9-45ee3e0956ec	g.chr3:25215976C>G	ENST00000404969.1	+	1	88	c.88C>G	c.(88-90)Cca>Gca	p.P30A				P10826	RARB_HUMAN	retinoic acid receptor, beta	30	Modulating.				embryonic digestive tract development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	protein binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(3)|kidney(1)|large_intestine(10)|lung(11)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	28					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tamibarotene(DB04942)|Tazarotene(DB00799)	GTTACTCTTTCCACCTGTCAT	0.607													31	66					0	0	1	0	0	G	25215976	C	G	25215976	3	3	143	1	0	0	0	0	1	0	0	0	13105	870	30	5		5	RARB	3	25215976	Missense_Mutation	SNP	C	TCGA-DU-A76L-01A-11D-A32B-08		25215976	172806454	12	22232											
CX3CR1	1524	broad.mit.edu	37	3	39307575	39307575	+	Silent	SNP	G	G	A			TCGA-DU-A76L-01A-11D-A32B-08	TCGA-DU-A76L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cd8a995-4961-46b1-9c3d-3057adbba25b	fbcafe3c-94fb-4008-82d9-45ee3e0956ec	g.chr3:39307575G>A	ENST00000541347.1	-	2	665	c.426C>T	c.(424-426)acC>acT	p.T142T	CX3CR1_ENST00000542107.1_Silent_p.T142T|CX3CR1_ENST00000399220.2_Silent_p.T142T|CX3CR1_ENST00000358309.3_Silent_p.T174T	NM_001171171.1	NP_001164642.1	P49238	CX3C1_HUMAN	chemokine (C-X3-C motif) receptor 1	142					cell adhesion|cellular defense response|chemotaxis|interspecies interaction between organisms|response to wounding	integral to plasma membrane	chemokine receptor activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0557)|Kidney(284;0.0699)		CATGCTGCACGGTCCGGTTGT	0.522													18	61					0	0	1	0	0	A	39307575	G	A	39307575	2	1	143	1	0	0	0	0	0	0	0	1	4098	1103	39	1		1	CX3CR1	3	39307575	Silent	SNP	G	TCGA-DU-A76L-01A-11D-A32B-08	14091599	39307575	158714855	13	22233											
HLTF	6596	broad.mit.edu	37	3	148756906	148756906	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-A76L-01A-11D-A32B-08	TCGA-DU-A76L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cd8a995-4961-46b1-9c3d-3057adbba25b	fbcafe3c-94fb-4008-82d9-45ee3e0956ec	g.chr3:148756906A>C	ENST00000310053.5	-	23	2919	c.2726T>G	c.(2725-2727)cTt>cGt	p.L909R	HLTF_ENST00000392912.2_Missense_Mutation_p.L909R|HLTF_ENST00000465259.1_Missense_Mutation_p.L908R|HLTF_ENST00000494055.1_Missense_Mutation_p.L909R	NM_003071.3|NM_139048.2	NP_003062.2|NP_620636.1	Q14527	HLTF_HUMAN	helicase-like transcription factor	909	Helicase C-terminal.				chromatin modification|transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			TAAGGACAGAAGCATTATAGT	0.378													7	24					0	0	1	0	0	C	148756906	A	C	148756906	3	2	143	1	0	0	0	0	1	0	0	0	7256	72	3	5	315	5	HLTF	3	148756906	Missense_Mutation	SNP	A	TCGA-DU-A76L-01A-11D-A32B-08	109449331	148756906	49265524	14	22234											
SI	6476	broad.mit.edu	37	3	164757760	164757760	+	Splice_Site	SNP	C	C	A			TCGA-DU-A76L-01A-11D-A32B-08	TCGA-DU-A76L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cd8a995-4961-46b1-9c3d-3057adbba25b	fbcafe3c-94fb-4008-82d9-45ee3e0956ec	g.chr3:164757760C>A	ENST00000264382.3	-	19	2222		c.e19-1			NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)						carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	CTCATAAAACCTAAGAACAAT	0.353										HNSCC(35;0.089)			22	52					1.96292e-10	1.99797e-10	1	1	0	A	164757760	C	A	164757760	5	1	143	1	0	0	0	0	0	0	1	0	14352	695	24	4	3444	4	SI	3	164757760	Splice_Site	SNP	C	TCGA-DU-A76L-01A-11D-A32B-08	16000854	164757760	33264670	15	22235											
STATH	6779	broad.mit.edu	37	4	70865507	70865507	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A76L-01A-11D-A32B-08	TCGA-DU-A76L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cd8a995-4961-46b1-9c3d-3057adbba25b	fbcafe3c-94fb-4008-82d9-45ee3e0956ec	g.chr4:70865507G>A	ENST00000246895.4	+	4	194	c.83G>A	c.(82-84)cGt>cAt	p.R28H	STATH_ENST00000381060.2_Intron	NM_003154.2	NP_003145.1	P02808	STAT_HUMAN	statherin	28			Missing (in statherin variants SV2 and SV3).		biomineral tissue development|negative regulation of bone mineralization|ossification|saliva secretion	extracellular region	extracellular matrix constituent, lubricant activity|hydroxyapatite binding|protein binding|structural constituent of tooth enamel			lung(2)|skin(1)	3						AAATTTTTGCGTAGAATTGGA	0.313													7	27					0	0	1	0	0	A	70865507	G	A	70865507	3	1	143	1	0	0	0	0	1	0	0	0	15327	1145	40	1	93	1	STATH	4	70865507	Missense_Mutation	SNP	G	TCGA-DU-A76L-01A-11D-A32B-08		70865507	120288769	16	22236											
GPRIN3	285513	broad.mit.edu	37	4	90170394	90170394	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A76L-01A-11D-A32B-08	TCGA-DU-A76L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cd8a995-4961-46b1-9c3d-3057adbba25b	fbcafe3c-94fb-4008-82d9-45ee3e0956ec	g.chr4:90170394G>A	ENST00000609438.1	-	2	1386	c.868C>T	c.(868-870)Cgt>Tgt	p.R290C	GPRIN3_ENST00000333209.4_Missense_Mutation_p.R290C	NM_198281.2	NP_938022.2	Q6ZVF9	GRIN3_HUMAN	GPRIN family member 3											breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|prostate(2)|skin(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)		GACATCTGACGCTGTGCTGGC	0.562													44	92					0	0	1	0	0	A	90170394	G	A	90170394	3	1	143	1	0	0	0	0	1	0	0	0	6772	1087	38	1	1466	1	GPRIN3	4	90170394	Missense_Mutation	SNP	G	TCGA-DU-A76L-01A-11D-A32B-08	19304887	90170394	100983882	17	22237											
C9	735	broad.mit.edu	37	5	39308393	39308393	+	Silent	SNP	T	T	C			TCGA-DU-A76L-01A-11D-A32B-08	TCGA-DU-A76L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cd8a995-4961-46b1-9c3d-3057adbba25b	fbcafe3c-94fb-4008-82d9-45ee3e0956ec	g.chr5:39308393T>C	ENST00000263408.4	-	8	1274	c.1179A>G	c.(1177-1179)gaA>gaG	p.E393E		NM_001737.3	NP_001728.1	P02748	CO9_HUMAN	complement component 9	393	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes	extracellular region|membrane attack complex				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	Epithelial(62;0.158)			CAACAGAGATTTCAGAGAAAG	0.358													28	45					0	0	1	0	0	C	39308393	T	C	39308393	2	2	143	1	0	0	0	0	0	0	0	1	2461	1838	64	3		3	C9	5	39308393	Silent	SNP	T	TCGA-DU-A76L-01A-11D-A32B-08		39308393	141606867	18	22238											
PDE4D	5144	broad.mit.edu	37	5	59284544	59284544	+	Splice_Site	SNP	C	C	T			TCGA-DU-A76L-01A-11D-A32B-08	TCGA-DU-A76L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cd8a995-4961-46b1-9c3d-3057adbba25b	fbcafe3c-94fb-4008-82d9-45ee3e0956ec	g.chr5:59284544C>T	ENST00000502484.2	-	3	266	c.43G>A	c.(43-45)Gcc>Acc	p.A15T	PDE4D_ENST00000546160.1_Splice_Site_p.A15T	NM_001165899.1	NP_001159371.1	Q08499	PDE4D_HUMAN	phosphodiesterase 4D, cAMP-specific	0					signal transduction	cytosol|insoluble fraction|membrane|microtubule organizing center|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|pancreas(1)	15		all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954)		Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276)	Adenosine monophosphate(DB00131)|Dyphylline(DB00651)	TCCTCAGAGGCCTGAGGTAAT	0.373													16	34					0	0	1	0	0	T	59284544	C	T	59284544	5	4	143	1	0	0	0	0	0	0	1	0	11689	753	26	2	2773	2	PDE4D	5	59284544	Splice_Site	SNP	C	TCGA-DU-A76L-01A-11D-A32B-08	19976151	59284544	121630716	19	22239											
PCDHGB3	56102	broad.mit.edu	37	5	140751398	140751398	+	Silent	SNP	C	C	T			TCGA-DU-A76L-01A-11D-A32B-08	TCGA-DU-A76L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cd8a995-4961-46b1-9c3d-3057adbba25b	fbcafe3c-94fb-4008-82d9-45ee3e0956ec	g.chr5:140751398C>T	ENST00000576222.1	+	1	1568	c.1437C>T	c.(1435-1437)ccC>ccT	p.P479P	PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTCGGATCCCGACTTGGGAC	0.617													38	59					0	0	1	0	0	T	140751398	C	T	140751398	2	4	143	1	0	0	0	0	0	0	0	1	11611	639	23	1		1	PCDHGB3	5	140751398	Silent	SNP	C	TCGA-DU-A76L-01A-11D-A32B-08	81466854	140751398	40163862	20	22240											
ZNF391	346157	broad.mit.edu	37	6	27368400	27368400	+	Missense_Mutation	SNP	C	C	T	rs766091		TCGA-DU-A76L-01A-11D-A32B-08	TCGA-DU-A76L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cd8a995-4961-46b1-9c3d-3057adbba25b	fbcafe3c-94fb-4008-82d9-45ee3e0956ec	g.chr6:27368400C>T	ENST00000244576.4	+	3	796	c.251C>T	c.(250-252)cCa>cTa	p.P84L		NM_001076781.1	NP_001070249.1	Q9UJN7	ZN391_HUMAN	zinc finger protein 391	84					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|large_intestine(6)|lung(7)|pancreas(2)|skin(3)|upper_aerodigestive_tract(1)	21						CATGGATCCCCAATATCTAGG	0.378													3	60					0	0	1	0	0	T	27368400	C	T	27368400	3	4	143	1	0	0	0	0	1	0	0	0	17936	594	21	2	253	2	ZNF391	6	27368400	Missense_Mutation	SNP	C	TCGA-DU-A76L-01A-11D-A32B-08		27368400	143746667	21	22241											
OR5V1	81696	broad.mit.edu	37	6	29323500	29323500	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-A76L-01A-11D-A32B-08	TCGA-DU-A76L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cd8a995-4961-46b1-9c3d-3057adbba25b	fbcafe3c-94fb-4008-82d9-45ee3e0956ec	g.chr6:29323500A>G	ENST00000377154.1	-	4	772	c.473T>C	c.(472-474)gTg>gCg	p.V158A	OR5V1_ENST00000543825.1_Missense_Mutation_p.V158A			Q9UGF6	OR5V1_HUMAN	olfactory receptor, family 5, subfamily V, member 1	158					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(3)|large_intestine(3)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						CACTGTATGCACCACTGAGTT	0.443													21	42					0	0	1	0	0	G	29323500	A	G	29323500	3	3	143	1	0	0	0	0	1	0	0	0	11231	159	6	3	495	3	OR5V1	6	29323500	Missense_Mutation	SNP	A	TCGA-DU-A76L-01A-11D-A32B-08	1955100	29323500	141791567	22	22242											
GABRR1	2569	broad.mit.edu	37	6	89890145	89890145	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A76L-01A-11D-A32B-08	TCGA-DU-A76L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cd8a995-4961-46b1-9c3d-3057adbba25b	fbcafe3c-94fb-4008-82d9-45ee3e0956ec	g.chr6:89890145C>T	ENST00000435811.1	-	8	1415	c.961G>A	c.(961-963)Gtc>Atc	p.V321I	GABRR1_ENST00000454853.2_Missense_Mutation_p.V338I|GABRR1_ENST00000369451.3_Missense_Mutation_p.V251I	NM_001256703.1	NP_001243632.1	P24046	GBRR1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 1	338					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(7)|lung(16)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	35		all_cancers(76;9.49e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.46e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)		BRCA - Breast invasive adenocarcinoma(108;0.00917)	Picrotoxin(DB00466)	ATGTAGGAGACGCGCGGCATG	0.537													18	31					0	0	1	0	0	T	89890145	C	T	89890145	3	4	143	1	0	0	0	0	1	0	0	0	6211	536	19	1	435	1	GABRR1	6	89890145	Missense_Mutation	SNP	C	TCGA-DU-A76L-01A-11D-A32B-08	60566645	89890145	81224922	23	22243											
MDN1	23195	broad.mit.edu	37	6	90472240	90472240	+	Silent	SNP	C	C	T			TCGA-DU-A76L-01A-11D-A32B-08	TCGA-DU-A76L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cd8a995-4961-46b1-9c3d-3057adbba25b	fbcafe3c-94fb-4008-82d9-45ee3e0956ec	g.chr6:90472240C>T	ENST00000369393.3	-	16	2269	c.2154G>A	c.(2152-2154)ccG>ccA	p.P718P	MDN1_ENST00000428876.1_Silent_p.P718P			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	718					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		TATGGTCCACCGGTTTATAAC	0.413													11	40					0	0	1	0	0	T	90472240	C	T	90472240	2	4	143	1	0	0	0	0	0	0	0	1	9465	639	23	1		1	MDN1	6	90472240	Silent	SNP	C	TCGA-DU-A76L-01A-11D-A32B-08	582095	90472240	80642827	24	22244											
TRRAP	8295	broad.mit.edu	37	7	98530949	98530949	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A76L-01A-11D-A32B-08	TCGA-DU-A76L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cd8a995-4961-46b1-9c3d-3057adbba25b	fbcafe3c-94fb-4008-82d9-45ee3e0956ec	g.chr7:98530949C>T	ENST00000359863.4	+	27	4147	c.3938C>T	c.(3937-3939)aCg>aTg	p.T1313M	TRRAP_ENST00000446306.3_Missense_Mutation_p.T1312M|TRRAP_ENST00000355540.3_Missense_Mutation_p.T1313M	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	1313					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			GAGGGGAACACGTTCTGTACC	0.587													7	38					0	0	1	0	0	T	98530949	C	T	98530949	3	4	143	1	0	0	0	0	1	0	0	0	16662	536	19	1	4040	1	TRRAP	7	98530949	Missense_Mutation	SNP	C	TCGA-DU-A76L-01A-11D-A32B-08		98530949	60607714	25	22245											
FSCN3	29999	broad.mit.edu	37	7	127235509	127235509	+	Missense_Mutation	SNP	G	G	A	rs35505193	byFrequency	TCGA-DU-A76L-01A-11D-A32B-08	TCGA-DU-A76L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cd8a995-4961-46b1-9c3d-3057adbba25b	fbcafe3c-94fb-4008-82d9-45ee3e0956ec	g.chr7:127235509G>A	ENST00000265825.5	+	2	512	c.293G>A	c.(292-294)cGt>cAt	p.R98H	FSCN3_ENST00000420086.2_5'UTR|FSCN3_ENST00000478328.1_3'UTR	NM_020369.2	NP_065102.1	Q9NQT6	FSCN3_HUMAN	fascin homolog 3, actin-bundling protein, testicular (Strongylocentrotus purpuratus)	98						actin cytoskeleton|cytoplasm	actin filament binding|protein binding, bridging			endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30						TTTCTACTGCGTTTCCACCGG	0.557													14	37					0	0	1	0	0	A	127235509	G	A	127235509	3	1	143	1	0	0	0	0	1	0	0	0	6104	1145	40	1	299	1	FSCN3	7	127235509	Missense_Mutation	SNP	G	TCGA-DU-A76L-01A-11D-A32B-08	28704560	127235509	31903154	26	22246											
RNF32	140545	broad.mit.edu	37	7	156437435	156437435	+	Silent	SNP	G	G	A			TCGA-DU-A76L-01A-11D-A32B-08	TCGA-DU-A76L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cd8a995-4961-46b1-9c3d-3057adbba25b	fbcafe3c-94fb-4008-82d9-45ee3e0956ec	g.chr7:156437435G>A	ENST00000392741.2	+	2	346	c.258G>A	c.(256-258)ccG>ccA	p.P86P	RNF32_ENST00000432459.2_Silent_p.P86P|RNF32_ENST00000392743.2_Silent_p.P86P|RNF32_ENST00000317955.5_Silent_p.P86P|RNF32_ENST00000311822.8_Silent_p.P86P|RNF32_ENST00000405335.1_Silent_p.P86P|RNF32_ENST00000392740.1_Silent_p.P86P|RNF32_ENST00000343665.4_Silent_p.P86P|RNF32_ENST00000480011.1_3'UTR			Q9H0A6	RNF32_HUMAN	ring finger protein 32	86						aggresome|endosome	protein binding|zinc ion binding			cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(2)	15	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00291)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		ATCCCAAACCGCCGCCGTTGA	0.343													25	119					0	0	1	0	0	A	156437435	G	A	156437435	2	1	143	1	0	0	0	0	0	0	0	1	13540	1074	38	1		1	RNF32	7	156437435	Silent	SNP	G	TCGA-DU-A76L-01A-11D-A32B-08	29201926	156437435	2701228	27	22247											
MTPAP	55149	broad.mit.edu	37	10	30602641	30602641	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-A76L-01A-11D-A32B-08	TCGA-DU-A76L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cd8a995-4961-46b1-9c3d-3057adbba25b	fbcafe3c-94fb-4008-82d9-45ee3e0956ec	g.chr10:30602641A>C	ENST00000358107.4	-	10	2035	c.2036T>G	c.(2035-2037)tTt>tGt	p.F679C	MTPAP_ENST00000263063.4_Missense_Mutation_p.F549C|MTPAP_ENST00000488290.1_5'UTR			Q9NVV4	PAPD1_HUMAN	mitochondrial poly(A) polymerase	549					cell death|histone mRNA catabolic process|mRNA polyadenylation|transcription, DNA-dependent	mitochondrion	ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|protein homodimerization activity|RNA binding|UTP binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						TTCAATTGCAAACTTATTGCT	0.393													18	33					0	0	1	0	0	C	30602641	A	C	30602641	3	2	143	1	0	0	0	0	1	0	0	0	10004	14	1	5	106	5	MTPAP	10	30602641	Missense_Mutation	SNP	A	TCGA-DU-A76L-01A-11D-A32B-08		30602641	104932106	28	22248											
PSAP	5660	broad.mit.edu	37	10	73579488	73579488	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A76L-01A-11D-A32B-08	TCGA-DU-A76L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cd8a995-4961-46b1-9c3d-3057adbba25b	fbcafe3c-94fb-4008-82d9-45ee3e0956ec	g.chr10:73579488C>T	ENST00000394936.3	-	10	1322	c.1175G>A	c.(1174-1176)cGg>cAg	p.R392Q	PSAP_ENST00000394934.1_Missense_Mutation_p.R394Q			P07602	SAP_HUMAN	prosaposin	392	Saposin B-type 3.				glycosphingolipid metabolic process|lipid transport|platelet activation|platelet degranulation	extracellular space|Golgi apparatus|integral to membrane|lysosomal lumen	enzyme activator activity|lipid binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	13						TGCAGGCAGCCGCGTGCCAGA	0.677													13	16					0	0	1	0	0	T	73579488	C	T	73579488	3	4	143	1	0	0	0	0	1	0	0	0	12692	652	23	1	419	1	PSAP	10	73579488	Missense_Mutation	SNP	C	TCGA-DU-A76L-01A-11D-A32B-08	42976847	73579488	61955259	29	22249											
SEMA4G	57715	broad.mit.edu	37	10	102738982	102738982	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-A76L-01A-11D-A32B-08	TCGA-DU-A76L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cd8a995-4961-46b1-9c3d-3057adbba25b	fbcafe3c-94fb-4008-82d9-45ee3e0956ec	g.chr10:102738982T>C	ENST00000210633.3	+	8	1015	c.937T>C	c.(937-939)Tca>Cca	p.S313P	MRPL43_ENST00000318325.2_3'UTR|MRPL43_ENST00000370242.4_3'UTR|SEMA4G_ENST00000519756.1_3'UTR|SEMA4G_ENST00000517724.1_Missense_Mutation_p.S313P|SEMA4G_ENST00000370250.4_Missense_Mutation_p.S313P|MRPL43_ENST00000370241.3_Intron			Q9NTN9	SEM4G_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4G	313	Sema.				cell differentiation|nervous system development	integral to membrane	receptor activity			breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Colorectal(252;0.234)		Epithelial(162;3.71e-09)|all cancers(201;2.1e-07)		TGCTGAAACCTCAAGCCGTAC	0.557													3	48					0	0	1	0	0	C	102738982	T	C	102738982	3	2	143	1	0	0	0	0	1	0	0	0	14090	1551	54	3	967	3	SEMA4G	10	102738982	Missense_Mutation	SNP	T	TCGA-DU-A76L-01A-11D-A32B-08	29159494	102738982	32795765	30	22250											
MRGPRE	116534	broad.mit.edu	37	11	3249681	3249681	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A76L-01A-11D-A32B-08	TCGA-DU-A76L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cd8a995-4961-46b1-9c3d-3057adbba25b	fbcafe3c-94fb-4008-82d9-45ee3e0956ec	g.chr11:3249681C>T	ENST00000389832.5	-	2	655	c.349G>A	c.(349-351)Gtc>Atc	p.V117I	MRGPRE_ENST00000436689.2_Missense_Mutation_p.V116I|AC109309.4_ENST00000418995.2_RNA			Q86SM8	MRGRE_HUMAN	MAS-related GPR, member E	116						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	19		Medulloblastoma(188;0.00106)|all_epithelial(84;0.00111)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00529)|LUSC - Lung squamous cell carcinoma(625;0.19)		TCCACGCTGACGGCCGCCAGG	0.687													9	23					0	0	1	0	0	T	3249681	C	T	3249681	3	4	143	1	0	0	0	0	1	0	0	0	9813	536	19	1	593	1	MRGPRE	11	3249681	Missense_Mutation	SNP	C	TCGA-DU-A76L-01A-11D-A32B-08		3249681	131756835	31	22251											
MYO7A	4647	broad.mit.edu	37	11	76903158	76903158	+	Silent	SNP	C	C	T			TCGA-DU-A76L-01A-11D-A32B-08	TCGA-DU-A76L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cd8a995-4961-46b1-9c3d-3057adbba25b	fbcafe3c-94fb-4008-82d9-45ee3e0956ec	g.chr11:76903158C>T	ENST00000409709.3	+	31	4259	c.3987C>T	c.(3985-3987)taC>taT	p.Y1329Y	MYO7A_ENST00000409619.2_Silent_p.Y1318Y|MYO7A_ENST00000458637.2_Silent_p.Y1329Y	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	1329	FERM 1.				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						GCGAGCAGTACGCCAAGGAGC	0.667											OREG0021258	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	25					0	0	1	0	0	T	76903158	C	T	76903158	2	4	143	1	0	0	0	0	0	0	0	1	10130	547	19	1		1	MYO7A	11	76903158	Silent	SNP	C	TCGA-DU-A76L-01A-11D-A32B-08	73653477	76903158	58103358	32	22252											
CACNA1C	775	broad.mit.edu	37	12	2613704	2613704	+	Splice_Site	SNP	G	G	A			TCGA-DU-A76L-01A-11D-A32B-08	TCGA-DU-A76L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cd8a995-4961-46b1-9c3d-3057adbba25b	fbcafe3c-94fb-4008-82d9-45ee3e0956ec	g.chr12:2613704G>A	ENST00000399634.1	+	8	1216	c.1216G>A	c.(1216-1218)Gga>Aga	p.G406R	CACNA1C_ENST00000480911.1_Intron|CACNA1C_ENST00000335762.5_Intron|CACNA1C_ENST00000399606.1_Intron|CACNA1C_ENST00000399638.1_Intron|CACNA1C_ENST00000399617.1_Splice_Site_p.G406R|CACNA1C_ENST00000399595.1_Intron|CACNA1C_ENST00000399649.1_Intron|CACNA1C_ENST00000399641.1_Splice_Site_p.G406R|CACNA1C_ENST00000399644.1_Intron|CACNA1C_ENST00000347598.4_Intron|CACNA1C_ENST00000491104.1_3'UTR|CACNA1C_ENST00000399621.1_Intron|CACNA1C_ENST00000406454.3_Splice_Site_p.G406R|CACNA1C_ENST00000399601.1_Intron|CACNA1C_ENST00000399597.1_Intron|CACNA1C_ENST00000344100.3_Intron|CACNA1C_ENST00000399629.1_Intron|CACNA1C_ENST00000327702.7_Intron|CACNA1C_ENST00000399591.1_Intron|CACNA1C_ENST00000399655.1_Intron|CACNA1C_ENST00000399637.1_Intron|CACNA1C_ENST00000402845.3_Intron|CACNA1C_ENST00000399603.1_Splice_Site_p.G406R	NM_001167625.1	NP_001161097.1	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	406			G -> R (in TS; causes a nearly complete loss of voltage-dependent channel inactivation).		axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	TGTGTTGAGCGGGTAAGCTGA	0.537													18	45					0	0	1	0	0	A	2613704	G	A	2613704	5	1	143	1	0	0	0	0	0	0	1	0	2558	1130	39	1	1246	1	CACNA1C	12	2613704	Splice_Site	SNP	G	TCGA-DU-A76L-01A-11D-A32B-08		2613704	131238191	33	22253											
TMEM132D	121256	broad.mit.edu	37	12	130184843	130184843	+	Silent	SNP	G	G	A			TCGA-DU-A76L-01A-11D-A32B-08	TCGA-DU-A76L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cd8a995-4961-46b1-9c3d-3057adbba25b	fbcafe3c-94fb-4008-82d9-45ee3e0956ec	g.chr12:130184843G>A	ENST00000422113.2	-	2	806	c.480C>T	c.(478-480)agC>agT	p.S160S		NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	160						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		TCTCCCCGGCGCTGCGGTCGT	0.642													13	21					0	0	1	0	0	A	130184843	G	A	130184843	2	1	143	1	0	0	0	0	0	0	0	1	16107	1078	38	1		1	TMEM132D	12	130184843	Silent	SNP	G	TCGA-DU-A76L-01A-11D-A32B-08	127571139	130184843	3667052	34	22254											
FAM179B	23116	broad.mit.edu	37	14	45432836	45432836	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-A76L-01A-11D-A32B-08	TCGA-DU-A76L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cd8a995-4961-46b1-9c3d-3057adbba25b	fbcafe3c-94fb-4008-82d9-45ee3e0956ec	g.chr14:45432836C>G	ENST00000361462.2	+	1	1395	c.1212C>G	c.(1210-1212)gaC>gaG	p.D404E	FAM179B_ENST00000361577.3_Missense_Mutation_p.D404E|FAM179B_ENST00000382233.2_Missense_Mutation_p.D404E			Q9Y4F4	F179B_HUMAN	family with sequence similarity 179, member B	404							binding			endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						ATTTGTTAGACGATTCTAACT	0.423													23	26					0	0	1	0	0	G	45432836	C	G	45432836	3	3	143	1	0	0	0	0	1	0	0	0	5536	535	19	5	1214	5	FAM179B	14	45432836	Missense_Mutation	SNP	C	TCGA-DU-A76L-01A-11D-A32B-08		45432836	61916704	35	22255											
PDE8A	5151	broad.mit.edu	37	15	85656622	85656622	+	Nonsense_Mutation	SNP	C	C	T	rs141263963		TCGA-DU-A76L-01A-11D-A32B-08	TCGA-DU-A76L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cd8a995-4961-46b1-9c3d-3057adbba25b	fbcafe3c-94fb-4008-82d9-45ee3e0956ec	g.chr15:85656622C>T	ENST00000310298.4	+	14	1381	c.1129C>T	c.(1129-1131)Cga>Tga	p.R377*	PDE8A_ENST00000557819.2_3'UTR|PDE8A_ENST00000557957.1_Nonsense_Mutation_p.R305*|PDE8A_ENST00000339708.5_Nonsense_Mutation_p.R331*|PDE8A_ENST00000394553.1_Nonsense_Mutation_p.R377*			O60658	PDE8A_HUMAN	phosphodiesterase 8A	377					cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	25	Colorectal(223;0.227)		BRCA - Breast invasive adenocarcinoma(143;0.0608)			CAGCCAGAGACGACACTCTTC	0.537													21	78					0	0	1	0	0	T	85656622	C	T	85656622	4	4	143	1	0	0	0	0	0	1	0	0	11700	528	19	1	1179	1	PDE8A	15	85656622	Nonsense_Mutation	SNP	C	TCGA-DU-A76L-01A-11D-A32B-08		85656622	16874770	36	22256											
PDILT	204474	broad.mit.edu	37	16	20396139	20396139	+	Silent	SNP	C	C	T			TCGA-DU-A76L-01A-11D-A32B-08	TCGA-DU-A76L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cd8a995-4961-46b1-9c3d-3057adbba25b	fbcafe3c-94fb-4008-82d9-45ee3e0956ec	g.chr16:20396139C>T	ENST00000302451.4	-	3	485	c.237G>A	c.(235-237)gcG>gcA	p.A79A		NM_174924.1	NP_777584.1	Q8N807	PDILT_HUMAN	protein disulfide isomerase-like, testis expressed	79					cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						CCAGCTCTTCCGCCAAGTTCC	0.483													104	225					0	0	1	0	0	T	20396139	C	T	20396139	2	4	143	1	0	0	0	0	0	0	0	1	11721	639	23	1		1	PDILT	16	20396139	Silent	SNP	C	TCGA-DU-A76L-01A-11D-A32B-08		20396139	69958614	37	22257											
TERF2IP	54386	broad.mit.edu	37	16	75690356	75690356	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-A76L-01A-11D-A32B-08	TCGA-DU-A76L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cd8a995-4961-46b1-9c3d-3057adbba25b	fbcafe3c-94fb-4008-82d9-45ee3e0956ec	g.chr16:75690356C>G	ENST00000300086.4	+	3	1144	c.1047C>G	c.(1045-1047)ttC>ttG	p.F349L		NM_018975.3	NP_061848.2	Q9NYB0	TE2IP_HUMAN	telomeric repeat binding factor 2, interacting protein	349					negative regulation of DNA recombination at telomere|negative regulation of telomere maintenance|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|regulation of double-strand break repair via homologous recombination|telomere maintenance via telomerase|transcription, DNA-dependent	cytoplasm|nuclear telomere cap complex|nucleoplasm	DNA binding|protein binding			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)	5						CTTCCGCCTTCTTAGCGTCTG	0.443													5	245					0	0	1	0	0	G	75690356	C	G	75690356	3	3	143	1	0	0	0	0	1	0	0	0	15822	912	32	4	1057	4	TERF2IP	16	75690356	Missense_Mutation	SNP	C	TCGA-DU-A76L-01A-11D-A32B-08	55294217	75690356	14664397	38	22258											
PRPF8	10594	broad.mit.edu	37	17	1576707	1576707	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A76L-01A-11D-A32B-08	TCGA-DU-A76L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cd8a995-4961-46b1-9c3d-3057adbba25b	fbcafe3c-94fb-4008-82d9-45ee3e0956ec	g.chr17:1576707G>A	ENST00000572621.1	-	22	3866	c.3601C>T	c.(3601-3603)Cgc>Tgc	p.R1201C	PRPF8_ENST00000304992.6_Missense_Mutation_p.R1201C			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	1201						catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		TAGCTGGTGCGGCACTTAGGC	0.577													11	38					0	0	1	0	0	A	1576707	G	A	1576707	3	1	143	1	0	0	0	0	1	0	0	0	12627	1116	39	1	3490	1	PRPF8	17	1576707	Missense_Mutation	SNP	G	TCGA-DU-A76L-01A-11D-A32B-08		1576707	79618503	39	22259											
NLGN2	57555	broad.mit.edu	37	17	7320334	7320334	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A76L-01A-11D-A32B-08	TCGA-DU-A76L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cd8a995-4961-46b1-9c3d-3057adbba25b	fbcafe3c-94fb-4008-82d9-45ee3e0956ec	g.chr17:7320334G>A	ENST00000302926.2	+	7	1797	c.1724G>A	c.(1723-1725)aGc>aAc	p.S575N	NLGN2_ENST00000575301.1_Missense_Mutation_p.S575N	NM_020795.2	NP_065846.1	Q8NFZ4	NLGN2_HUMAN	neuroligin 2	575					cell-cell junction maintenance|neuron cell-cell adhesion|positive regulation of synaptogenesis|regulation of inhibitory postsynaptic membrane potential|synapse assembly	cell surface|integral to plasma membrane|postsynaptic membrane	neurexin binding|receptor activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|prostate(2)|skin(3)	22		Prostate(122;0.157)				AAATTCAACAGCAAGGAGAAG	0.597													3	27					0	0	1	0	0	A	7320334	G	A	7320334	3	1	143	1	0	0	0	0	1	0	0	0	10509	971	34	2	1750	2	NLGN2	17	7320334	Missense_Mutation	SNP	G	TCGA-DU-A76L-01A-11D-A32B-08	5743627	7320334	73874876	40	22260											
ELAC2	60528	broad.mit.edu	37	17	12920190	12920190	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A76L-01A-11D-A32B-08	TCGA-DU-A76L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cd8a995-4961-46b1-9c3d-3057adbba25b	fbcafe3c-94fb-4008-82d9-45ee3e0956ec	g.chr17:12920190C>T	ENST00000338034.4	-	3	595	c.356G>A	c.(355-357)gGg>gAg	p.G119E	ELAC2_ENST00000395962.2_Missense_Mutation_p.G100E|ELAC2_ENST00000609345.1_5'UTR|ELAC2_ENST00000578071.1_Missense_Mutation_p.G119E|ELAC2_ENST00000426905.3_Missense_Mutation_p.G119E	NM_018127.6|NM_173717.1	NP_060597.4|NP_776065.1	Q9BQ52	RNZ2_HUMAN	elaC ribonuclease Z 2	119					tRNA processing	nucleus	endonuclease activity|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|skin(1)	23						ACTTAAGCCCCCAACATTAGA	0.438													16	47					0	0	1	0	0	T	12920190	C	T	12920190	3	4	143	1	0	0	0	0	1	0	0	0	5075	623	22	2	2212	2	ELAC2	17	12920190	Missense_Mutation	SNP	C	TCGA-DU-A76L-01A-11D-A32B-08	5599856	12920190	68275020	41	22261											
CCDC144A	9720	broad.mit.edu	37	17	16667394	16667394	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A76L-01A-11D-A32B-08	TCGA-DU-A76L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cd8a995-4961-46b1-9c3d-3057adbba25b	fbcafe3c-94fb-4008-82d9-45ee3e0956ec	g.chr17:16667394G>A	ENST00000443444.2	+	15	4143	c.4003G>A	c.(4003-4005)Gtt>Att	p.V1335I	CCDC144A_ENST00000399273.1_Missense_Mutation_p.V1335I|CCDC144A_ENST00000456009.1_Missense_Mutation_p.V1101I|RP11-219A15.1_ENST00000448331.3_Missense_Mutation_p.V1335I|CCDC144A_ENST00000360524.8_Missense_Mutation_p.V1335I			A2RUR9	C144A_HUMAN	coiled-coil domain containing 144A	1335																	GTCACCTTGCGTTGGAAATCT	0.433													10	40					0	0	1	0	0	A	16667394	G	A	16667394	3	1	143	1	0	0	0	0	1	0	0	0	2795	1145	40	1	4061	1	CCDC144A	17	16667394	Missense_Mutation	SNP	G	TCGA-DU-A76L-01A-11D-A32B-08	3747204	16667394	64527816	42	22262											
NF1	4763	broad.mit.edu	37	17	29550493	29550497	+	Frame_Shift_Del	DEL	TTAAC	TTAAC	-			TCGA-DU-A76L-01A-11D-A32B-08	TCGA-DU-A76L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cd8a995-4961-46b1-9c3d-3057adbba25b	fbcafe3c-94fb-4008-82d9-45ee3e0956ec	g.chr17:29550493_29550497delTTAAC	ENST00000358273.4	+	16	2136_2140	c.1753_1757delTTAAC	c.(1753-1758)ttaactfs	p.LT585fs	NF1_ENST00000356175.3_Frame_Shift_Del_p.LT585fs	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	585					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		CTGCAAGAAATTAACTAGTCATCAA	0.327			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			15	47	---	---	---	---						-	29550497	TTAAC	-	29550493	7	5	143	1	0	1	0	1	0	0	0	0	10403	1490	52	0	1876	0	NF1	17	29550493	Frame_Shift_Del	DEL	TTAAC	TCGA-DU-A76L-01A-11D-A32B-08	12883099	29550493	51644717	43	22263											
TNS4	84951	broad.mit.edu	37	17	38645093	38645093	+	Missense_Mutation	SNP	C	C	T	rs140343246		TCGA-DU-A76L-01A-11D-A32B-08	TCGA-DU-A76L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cd8a995-4961-46b1-9c3d-3057adbba25b	fbcafe3c-94fb-4008-82d9-45ee3e0956ec	g.chr17:38645093C>T	ENST00000254051.6	-	3	726	c.568G>A	c.(568-570)Gtc>Atc	p.V190I		NM_032865.5	NP_116254.4	Q8IZW8	TENS4_HUMAN	tensin 4	190	Ser-rich.				apoptosis|protein localization	cytoplasm|cytoskeleton|focal adhesion	actin binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	30		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(5;5.91e-05)			TCTCGGGGGACGTCTCTGGAA	0.667													26	60					0	0	1	0	0	T	38645093	C	T	38645093	3	4	143	1	0	0	0	0	1	0	0	0	16405	536	19	1	1623	1	TNS4	17	38645093	Missense_Mutation	SNP	C	TCGA-DU-A76L-01A-11D-A32B-08	9094600	38645093	42550117	44	22264											
PTPRM	5797	broad.mit.edu	37	18	7949214	7949214	+	Silent	SNP	C	C	T			TCGA-DU-A76L-01A-11D-A32B-08	TCGA-DU-A76L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cd8a995-4961-46b1-9c3d-3057adbba25b	fbcafe3c-94fb-4008-82d9-45ee3e0956ec	g.chr18:7949214C>T	ENST00000332175.8	+	6	1736	c.699C>T	c.(697-699)atC>atT	p.I233I	PTPRM_ENST00000400060.4_Silent_p.I233I|PTPRM_ENST00000444013.1_Silent_p.I20I|PTPRM_ENST00000580170.1_Silent_p.I233I|PTPRM_ENST00000400053.4_Silent_p.I171I	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	233	Ig-like C2-type.				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				TGAAGGAAATCAAGGTGACCA	0.473													12	64					0	0	1	0	0	T	7949214	C	T	7949214	2	4	143	1	0	0	0	0	0	0	0	1	12858	816	29	2		2	PTPRM	18	7949214	Silent	SNP	C	TCGA-DU-A76L-01A-11D-A32B-08		7949214	70128034	45	22265											
TRIM11	81559	broad.mit.edu	37	1	228588830	228588830	+	Silent	SNP	T	T	A			TCGA-DU-A76O-01A-11D-A32B-08	TCGA-DU-A76O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a03bd35f-7f26-469d-b875-8b05b08087b3	61655cba-e339-4aa1-a454-540ab08dc5cb	g.chr1:228588830T>A	ENST00000493030.2	-	2	3904	c.195A>T	c.(193-195)gcA>gcT	p.A65A	TRIM11_ENST00000366699.3_Silent_p.A190A|TRIM11_ENST00000460651.1_5'UTR|TRIM11_ENST00000284551.6_Silent_p.A190A			Q96F44	TRI11_HUMAN	tripartite motif containing 11	190					response to virus	cytoplasm|nucleus	protein binding|zinc ion binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|skin(1)	18		Prostate(94;0.0724)				GCTCCTCCTCTGCCAGCAAAC	0.677													8	34					0	0	1	0	0	A	228588830	T	A	228588830	2	1	144	1	0	0	0	0	0	0	0	1	16548	1567	55	5		5	TRIM11	1	228588830	Silent	SNP	T	TCGA-DU-A76O-01A-11D-A32B-08		228588830	20661791	1	22266											
RRM2	6241	broad.mit.edu	37	2	10263519	10263519	+	Silent	SNP	T	T	C			TCGA-DU-A76O-01A-11D-A32B-08	TCGA-DU-A76O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a03bd35f-7f26-469d-b875-8b05b08087b3	61655cba-e339-4aa1-a454-540ab08dc5cb	g.chr2:10263519T>C	ENST00000360566.2	+	3	651	c.360T>C	c.(358-360)acT>acC	p.T120T	RRM2_ENST00000304567.5_Silent_p.T60T	NM_001165931.1	NP_001159403.1	P31350	RIR2_HUMAN	ribonucleotide reductase M2	60					deoxyribonucleoside diphosphate metabolic process|deoxyribonucleotide biosynthetic process|DNA replication|nucleobase, nucleoside and nucleotide interconversion|regulation of transcription involved in G1/S phase of mitotic cell cycle	cytosol	ribonucleoside-diphosphate reductase activity|transition metal ion binding			NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(7)|skin(1)	19	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.188)|OV - Ovarian serous cystadenocarcinoma(76;0.221)		AACAGAAAACTAAAGCAGCTG	0.493													4	61					0	0	1	0	0	C	10263519	T	C	10263519	2	2	144	1	0	0	0	0	0	0	0	1	13734	1509	53	3		3	RRM2	2	10263519	Silent	SNP	T	TCGA-DU-A76O-01A-11D-A32B-08		10263519	232935854	2	22267											
TMEM150A	129303	broad.mit.edu	37	2	85826350	85826350	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-A76O-01A-11D-A32B-08	TCGA-DU-A76O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a03bd35f-7f26-469d-b875-8b05b08087b3	61655cba-e339-4aa1-a454-540ab08dc5cb	g.chr2:85826350T>C	ENST00000409668.1	-	7	1132	c.665A>G	c.(664-666)tAt>tGt	p.Y222C	TMEM150A_ENST00000306353.3_Missense_Mutation_p.Y169C|TMEM150A_ENST00000334462.5_Missense_Mutation_p.Y222C			Q86TG1	T150A_HUMAN	transmembrane protein 150A	222						integral to membrane|plasma membrane				breast(1)|endometrium(2)|kidney(2)|lung(1)|skin(1)	7						GAAGGTGCCATAGAAAATGAG	0.567													17	40					0	0	1	0	0	C	85826350	T	C	85826350	3	2	144	1	0	0	0	0	1	0	0	0	16127	1406	49	3	154	3	TMEM150A	2	85826350	Missense_Mutation	SNP	T	TCGA-DU-A76O-01A-11D-A32B-08	75562831	85826350	157373023	3	22268											
AFF3	3899	broad.mit.edu	37	2	100623319	100623319	+	Silent	SNP	A	A	G			TCGA-DU-A76O-01A-11D-A32B-08	TCGA-DU-A76O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a03bd35f-7f26-469d-b875-8b05b08087b3	61655cba-e339-4aa1-a454-540ab08dc5cb	g.chr2:100623319A>G	ENST00000409236.2	-	5	760	c.648T>C	c.(646-648)ttT>ttC	p.F216F	AFF3_ENST00000317233.4_Silent_p.F216F|AFF3_ENST00000409579.1_Silent_p.F241F|AFF3_ENST00000356421.2_Silent_p.F241F			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3						multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						GGGATGGAGGAAAGTTCTGAA	0.582													32	52					0	0	1	0	0	G	100623319	A	G	100623319	2	3	144	1	0	0	0	0	0	0	0	1	357	243	9	3		3	AFF3	2	100623319	Silent	SNP	A	TCGA-DU-A76O-01A-11D-A32B-08	14796969	100623319	142576054	4	22269											
TTN	7273	broad.mit.edu	37	2	179631139	179631139	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-A76O-01A-11D-A32B-08	TCGA-DU-A76O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a03bd35f-7f26-469d-b875-8b05b08087b3	61655cba-e339-4aa1-a454-540ab08dc5cb	g.chr2:179631139C>A	ENST00000589042.1	-	41	9896	c.9672G>T	c.(9670-9672)agG>agT	p.R3224S	TTN-AS1_ENST00000610005.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R3178S|TTN_ENST00000460472.2_Missense_Mutation_p.R3178S|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000360870.5_Missense_Mutation_p.R3224S|TTN_ENST00000342175.6_Missense_Mutation_p.R3178S|TTN_ENST00000591111.1_Missense_Mutation_p.R3224S|TTN_ENST00000342992.6_Missense_Mutation_p.R3224S	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	2957							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AACTCCTGTTCCTTCCTGCCA	0.413													14	81					3.27435e-08	3.4879e-08	1	1	0	A	179631139	C	A	179631139	3	1	144	1	0	0	0	0	1	0	0	0	16797	854	30	5	101604	5	TTN	2	179631139	Missense_Mutation	SNP	C	TCGA-DU-A76O-01A-11D-A32B-08	79007820	179631139	63568234	5	22270											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-DU-A76O-01A-11D-A32B-08	TCGA-DU-A76O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a03bd35f-7f26-469d-b875-8b05b08087b3	61655cba-e339-4aa1-a454-540ab08dc5cb	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	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								19	32					0	0	1	0	0	T	209113112	C	T	209113112	3	4	144	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-DU-A76O-01A-11D-A32B-08	29481973	209113112	34086261	6	22271											
TUBA4A	7277	broad.mit.edu	37	2	220115622	220115622	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-A76O-01A-11D-A32B-08	TCGA-DU-A76O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a03bd35f-7f26-469d-b875-8b05b08087b3	61655cba-e339-4aa1-a454-540ab08dc5cb	g.chr2:220115622A>G	ENST00000392088.2	-	4	1309	c.754T>C	c.(754-756)Ttc>Ctc	p.F252L	TUBA4A_ENST00000248437.4_Missense_Mutation_p.F267L|TUBA4A_ENST00000498660.1_5'UTR	NM_001278552.1	NP_001265481.1	P68366	TBA4A_HUMAN	tubulin, alpha 4a	267					'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|platelet activation|platelet degranulation|protein polymerization	cytosol|extracellular region|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	20		Renal(207;0.0474)		Epithelial(149;1.16e-06)|all cancers(144;0.000191)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCCAGGGGGAAGTGGATGCGA	0.567													3	72					0	0	1	0	0	G	220115622	A	G	220115622	3	3	144	1	0	0	0	0	1	0	0	0	16811	72	3	3	551	3	TUBA4A	2	220115622	Missense_Mutation	SNP	A	TCGA-DU-A76O-01A-11D-A32B-08	11002510	220115622	23083751	7	22272											
TMEM198	130612	broad.mit.edu	37	2	220412401	220412401	+	Missense_Mutation	SNP	C	C	T	rs149628397		TCGA-DU-A76O-01A-11D-A32B-08	TCGA-DU-A76O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a03bd35f-7f26-469d-b875-8b05b08087b3	61655cba-e339-4aa1-a454-540ab08dc5cb	g.chr2:220412401C>T	ENST00000344458.2	+	4	925	c.340C>T	c.(340-342)Cgc>Tgc	p.R114C	TMEM198_ENST00000373883.3_Missense_Mutation_p.R114C			Q66K66	TM198_HUMAN	transmembrane protein 198	114	Leu-rich.					integral to membrane				NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	16		Renal(207;0.0376)		Epithelial(149;6.49e-08)|all cancers(144;6.45e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		CATGCTAGTGCGCAGCGTGGG	0.697													19	70					0	0	1	0	0	T	220412401	C	T	220412401	3	4	144	1	0	0	0	0	1	0	0	0	16179	768	27	1	346	1	TMEM198	2	220412401	Missense_Mutation	SNP	C	TCGA-DU-A76O-01A-11D-A32B-08	296779	220412401	22786972	8	22273											
BFSP2	8419	broad.mit.edu	37	3	133119064	133119064	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-A76O-01A-11D-A32B-08	TCGA-DU-A76O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a03bd35f-7f26-469d-b875-8b05b08087b3	61655cba-e339-4aa1-a454-540ab08dc5cb	g.chr3:133119064C>A	ENST00000302334.2	+	1	226	c.137C>A	c.(136-138)gCc>gAc	p.A46D		NM_003571.2	NP_003562.1	Q13515	BFSP2_HUMAN	beaded filament structural protein 2, phakinin	46	Head.				response to stimulus|visual perception	cytoplasm|intermediate filament|membrane	structural constituent of cytoskeleton|structural constituent of eye lens			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|urinary_tract(1)	13						AGGACCAATGCCATGAGTGGC	0.677													22	48					2.32416e-17	2.64846e-17	1	1	0	A	133119064	C	A	133119064	3	1	144	1	0	0	0	0	1	0	0	0	1415	739	26	5	139	5	BFSP2	3	133119064	Missense_Mutation	SNP	C	TCGA-DU-A76O-01A-11D-A32B-08		133119064	64903366	9	22274											
GBA3	57733	broad.mit.edu	37	4	22748921	22748921	+	RNA	SNP	A	A	G			TCGA-DU-A76O-01A-11D-A32B-08	TCGA-DU-A76O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a03bd35f-7f26-469d-b875-8b05b08087b3	61655cba-e339-4aa1-a454-540ab08dc5cb	g.chr4:22748921A>G	ENST00000511446.2	+	0	293				GBA3_ENST00000508166.1_RNA|GBA3_ENST00000503442.1_RNA	NM_001277225.1	NP_001264154.1	Q9H227	GBA3_HUMAN	glucosidase, beta, acid 3 (gene/pseudogene)						glycoside catabolic process|glycosylceramide catabolic process	cytosol	beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity			breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						CCTCCTAGGAATTGATTATTA	0.328													3	83					0	0	1	0	0	G	22748921	A	G	22748921	1	3	144	0	1	0	0	0	0	0	0	0	6308	101	4	3		3	GBA3	4	22748921	RNA	SNP	A	TCGA-DU-A76O-01A-11D-A32B-08		22748921	168405355	10	22275											
PELO	53918	broad.mit.edu	37	5	52097257	52097257	+	Silent	SNP	C	C	T			TCGA-DU-A76O-01A-11D-A32B-08	TCGA-DU-A76O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a03bd35f-7f26-469d-b875-8b05b08087b3	61655cba-e339-4aa1-a454-540ab08dc5cb	g.chr5:52097257C>T	ENST00000274311.2	+	3	1726	c.741C>T	c.(739-741)tcC>tcT	p.S247S	ITGA1_ENST00000282588.6_Intron|ITGA1_ENST00000504086.1_Intron|PELO_ENST00000506949.1_3'UTR	NM_015946.4	NP_057030.3	Q9BRX2	PELO_HUMAN	pelota homolog (Drosophila)	247					cell cycle|cell division|translation	cytoplasm|nucleus	endonuclease activity|metal ion binding|protein binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	11		Lung NSC(810;4.94e-05)|Breast(144;0.0848)				ATGCCTCCTCCGGACACAAGT	0.468													17	47					0	0	1	0	0	T	52097257	C	T	52097257	2	4	144	1	0	0	0	0	0	0	0	1	11771	639	23	1		1	PELO	5	52097257	Silent	SNP	C	TCGA-DU-A76O-01A-11D-A32B-08		52097257	128818003	11	22276											
TIAM2	26230	broad.mit.edu	37	6	155465814	155465814	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-A76O-01A-11D-A32B-08	TCGA-DU-A76O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a03bd35f-7f26-469d-b875-8b05b08087b3	61655cba-e339-4aa1-a454-540ab08dc5cb	g.chr6:155465814T>C	ENST00000461783.3	+	8	2978	c.1705T>C	c.(1705-1707)Ttt>Ctt	p.F569L	TIAM2_ENST00000367174.2_5'UTR|TIAM2_ENST00000318981.5_Missense_Mutation_p.F569L|TIAM2_ENST00000360366.4_Missense_Mutation_p.F569L|TIAM2_ENST00000529824.2_Missense_Mutation_p.F569L|TIAM2_ENST00000456144.1_Missense_Mutation_p.F569L			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	569	PH 1.				apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		GTGTGCTCTGTTTGCAGAAGA	0.468													6	60					0	0	1	0	0	C	155465814	T	C	155465814	3	2	144	1	0	0	0	0	1	0	0	0	15951	1725	60	3	1715	3	TIAM2	6	155465814	Missense_Mutation	SNP	T	TCGA-DU-A76O-01A-11D-A32B-08		155465814	15649253	12	22277											
GCK	2645	broad.mit.edu	37	7	44192978	44192978	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A76O-01A-11D-A32B-08	TCGA-DU-A76O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a03bd35f-7f26-469d-b875-8b05b08087b3	61655cba-e339-4aa1-a454-540ab08dc5cb	g.chr7:44192978C>T	ENST00000403799.3	-	2	599	c.130G>A	c.(130-132)Ggc>Agc	p.G44S	GCK_ENST00000395796.3_Missense_Mutation_p.G43S|GCK_ENST00000437084.1_Missense_Mutation_p.G44S|GCK_ENST00000345378.2_Missense_Mutation_p.G45S	NM_000162.3	NP_000153.1	P35557	HXK4_HUMAN	glucokinase (hexokinase 4)	44					cellular response to insulin stimulus|cellular response to leptin stimulus|detection of glucose|endocrine pancreas development|glucose homeostasis|glucose transport|glycolysis|negative regulation of gluconeogenesis|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|regulation of glucose transport|regulation of glycolysis|transmembrane transport	cytosol|nucleoplasm	ATP binding|glucokinase activity|glucose binding|protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	37						AGCCTCAGGCCGCGGTCCATC	0.612													4	208					0	0	1	0	0	T	44192978	C	T	44192978	3	4	144	1	0	0	0	0	1	0	0	0	6333	652	23	1	1303	1	GCK	7	44192978	Missense_Mutation	SNP	C	TCGA-DU-A76O-01A-11D-A32B-08		44192978	114945685	13	22278											
ARHGEF5	7984	broad.mit.edu	37	7	144060004	144060004	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DU-A76O-01A-11D-A32B-08	TCGA-DU-A76O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a03bd35f-7f26-469d-b875-8b05b08087b3	61655cba-e339-4aa1-a454-540ab08dc5cb	g.chr7:144060004delA	ENST00000056217.5	+	2	416	c.242delA	c.(241-243)gaafs	p.E81fs		NM_005435.3	NP_005426.2	Q12774	ARHG5_HUMAN	Rho guanine nucleotide exchange factor (GEF) 5	81					intracellular signal transduction|regulation of Rho protein signal transduction	intracellular	GTP binding|protein binding|Rho guanyl-nucleotide exchange factor activity			breast(1)|endometrium(6)|kidney(8)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Melanoma(164;0.14)					TTTCCCAAGGAAGGTTCTGCA	0.537													3	5	---	---	---	---						-	144060004	A	-	144060004	7	5	144	1	0	1	0	1	0	0	0	0	906	246	9	0	244	0	ARHGEF5	7	144060004	Frame_Shift_Del	DEL	A	TCGA-DU-A76O-01A-11D-A32B-08	99867026	144060004	15078659	14	22279											
ZNF503	84858	broad.mit.edu	37	10	77159228	77159228	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A76O-01A-11D-A32B-08	TCGA-DU-A76O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a03bd35f-7f26-469d-b875-8b05b08087b3	61655cba-e339-4aa1-a454-540ab08dc5cb	g.chr10:77159228G>A	ENST00000372524.4	-	2	1706	c.1220C>T	c.(1219-1221)cCg>cTg	p.P407L	RP11-399K21.11_ENST00000418818.2_lincRNA|ZNF503_ENST00000535216.1_Missense_Mutation_p.P407L	NM_032772.4	NP_116161.2	Q96F45	ZN503_HUMAN	zinc finger protein 503	407	Ala-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			lung(4)|ovary(1)|skin(1)	6	all_cancers(46;0.105)|all_epithelial(25;0.00449)|Prostate(51;0.0112)|Ovarian(15;0.088)					GGAGCCGGCCGGCTTACTGCA	0.706													5	4					0	0	1	0	0	A	77159228	G	A	77159228	3	1	144	1	0	0	0	0	1	0	0	0	18008	1116	39	1	724	1	ZNF503	10	77159228	Missense_Mutation	SNP	G	TCGA-DU-A76O-01A-11D-A32B-08		77159228	58375519	15	22280											
ARFIP2	23647	broad.mit.edu	37	11	6499304	6499304	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A76O-01A-11D-A32B-08	TCGA-DU-A76O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a03bd35f-7f26-469d-b875-8b05b08087b3	61655cba-e339-4aa1-a454-540ab08dc5cb	g.chr11:6499304G>A	ENST00000254584.2	-	6	745	c.662C>T	c.(661-663)aCg>aTg	p.T221M	ARFIP2_ENST00000396777.3_Missense_Mutation_p.T221M|ARFIP2_ENST00000445086.2_Missense_Mutation_p.T136M|ARFIP2_ENST00000423813.2_Missense_Mutation_p.T183M	NM_012402.3	NP_036534.1	P53365	ARFP2_HUMAN	ADP-ribosylation factor interacting protein 2	221	AH.				actin cytoskeleton organization|cellular component movement|lamellipodium assembly|ruffle organization|small GTPase mediated signal transduction	cell cortex|plasma membrane|ruffle	GTP binding|GTP-dependent protein binding|Rac GTPase binding			endometrium(2)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|skin(2)	15		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;3.41e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		AGTCATGAGCGTGTCTTCCAT	0.507													30	38					0	0	1	0	0	A	6499304	G	A	6499304	3	1	144	1	0	0	0	0	1	0	0	0	852	1145	40	1	375	1	ARFIP2	11	6499304	Missense_Mutation	SNP	G	TCGA-DU-A76O-01A-11D-A32B-08		6499304	128507212	16	22281											
ACRBP	84519	broad.mit.edu	37	12	6756525	6756525	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DU-A76O-01A-11D-A32B-08	TCGA-DU-A76O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a03bd35f-7f26-469d-b875-8b05b08087b3	61655cba-e339-4aa1-a454-540ab08dc5cb	g.chr12:6756525delT	ENST00000229243.2	-	1	101	c.8delA	c.(7-9)aagfs	p.K3fs	ACRBP_ENST00000414226.2_Frame_Shift_Del_p.K3fs|ACRBP_ENST00000536350.1_Frame_Shift_Del_p.K3fs	NM_032489.2	NP_115878.2	Q8NEB7	ACRBP_HUMAN	acrosin binding protein	3						acrosomal vesicle|extracellular region				NS(1)|breast(1)|central_nervous_system(1)|large_intestine(8)|lung(5)|ovary(1)	17						AGCGGCTGGCTTCCTCATGGC	0.672													2	4	---	---	---	---						-	6756525	T	-	6756525	7	5	144	1	0	1	0	1	0	0	0	0	170	1609	56	0	1663	0	ACRBP	12	6756525	Frame_Shift_Del	DEL	T	TCGA-DU-A76O-01A-11D-A32B-08		6756525	127095370	17	22282											
SLCO1C1	53919	broad.mit.edu	37	12	20870144	20870144	+	Missense_Mutation	SNP	A	A	G	rs112098263		TCGA-DU-A76O-01A-11D-A32B-08	TCGA-DU-A76O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a03bd35f-7f26-469d-b875-8b05b08087b3	61655cba-e339-4aa1-a454-540ab08dc5cb	g.chr12:20870144A>G	ENST00000381552.1	+	7	1123	c.755A>G	c.(754-756)gAc>gGc	p.D252G	SLCO1C1_ENST00000266509.2_Missense_Mutation_p.D252G|SLCO1C1_ENST00000540354.1_Missense_Mutation_p.D203G|SLCO1C1_ENST00000545102.1_Missense_Mutation_p.D134G|SLCO1C1_ENST00000545604.1_Missense_Mutation_p.D252G			Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family, member 1C1	252					sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)					CTATATGTTGACATTGGCTTT	0.348													7	58					0	0	1	0	0	G	20870144	A	G	20870144	3	3	144	1	0	0	0	0	1	0	0	0	14780	275	10	3	777	3	SLCO1C1	12	20870144	Missense_Mutation	SNP	A	TCGA-DU-A76O-01A-11D-A32B-08	14113619	20870144	112981751	18	22283											
ABCD2	225	broad.mit.edu	37	12	40013106	40013106	+	Silent	SNP	T	T	C			TCGA-DU-A76O-01A-11D-A32B-08	TCGA-DU-A76O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a03bd35f-7f26-469d-b875-8b05b08087b3	61655cba-e339-4aa1-a454-540ab08dc5cb	g.chr12:40013106T>C	ENST00000308666.3	-	1	447	c.312A>G	c.(310-312)acA>acG	p.T104T		NM_005164.3	NP_005155.1	Q9UBJ2	ABCD2_HUMAN	ATP-binding cassette, sub-family D (ALD), member 2	104	Interaction with PEX19.				fatty acid metabolic process|transport	ATP-binding cassette (ABC) transporter complex|integral to plasma membrane|peroxisomal membrane	ATP binding|ATPase activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(24)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	52						AGAGCCACCCTGTTTCAGTGG	0.423													4	47					0	0	1	0	0	C	40013106	T	C	40013106	2	2	144	1	0	0	0	0	0	0	0	1	61	1567	55	3		3	ABCD2	12	40013106	Silent	SNP	T	TCGA-DU-A76O-01A-11D-A32B-08	19142962	40013106	93838789	19	22284											
HDAC7	51564	broad.mit.edu	37	12	48188621	48188621	+	Silent	SNP	G	G	A	rs143888162	byFrequency	TCGA-DU-A76O-01A-11D-A32B-08	TCGA-DU-A76O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a03bd35f-7f26-469d-b875-8b05b08087b3	61655cba-e339-4aa1-a454-540ab08dc5cb	g.chr12:48188621G>A	ENST00000080059.7	-	12	1379	c.1380C>T	c.(1378-1380)gaC>gaT	p.D460D	HDAC7_ENST00000552960.1_Silent_p.D443D|HDAC7_ENST00000380610.4_Silent_p.D477D|HDAC7_ENST00000354334.3_Silent_p.D423D|HDAC7_ENST00000427332.2_Silent_p.D421D	NM_015401.3	NP_056216.2	Q8WUI4	HDAC7_HUMAN	histone deacetylase 7	421	Transcription repression 2 (By similarity).				negative regulation of interleukin-2 production|negative regulation of osteoblast differentiation|positive regulation of cell migration involved in sprouting angiogenesis|transcription, DNA-dependent	cytoplasm|histone deacetylase complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein kinase C binding|repressing transcription factor binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25				GBM - Glioblastoma multiforme(48;0.137)		CCAGGCCATCGTCCACCACCT	0.692													5	86					0	0	1	0	0	A	48188621	G	A	48188621	2	1	144	1	0	0	0	0	0	0	0	1	7053	1136	40	1		1	HDAC7	12	48188621	Silent	SNP	G	TCGA-DU-A76O-01A-11D-A32B-08	8175515	48188621	85663274	20	22285											
TMPO	7112	broad.mit.edu	37	12	98927443	98927443	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-A76O-01A-11D-A32B-08	TCGA-DU-A76O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a03bd35f-7f26-469d-b875-8b05b08087b3	61655cba-e339-4aa1-a454-540ab08dc5cb	g.chr12:98927443A>G	ENST00000266732.4	+	4	1646	c.1408A>G	c.(1408-1410)Act>Gct	p.T470A	TMPO_ENST00000343315.5_Intron|TMPO_ENST00000393053.2_Intron|TMPO_ENST00000261210.5_Intron|TMPO_ENST00000556029.1_Intron	NM_003276.2	NP_003267.1	P42167	LAP2B_HUMAN	thymopoietin	0						integral to membrane|nuclear inner membrane	DNA binding|lamin binding			breast(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						TCATTCACTCACTACCTTAGG	0.393													4	67					0	0	1	0	0	G	98927443	A	G	98927443	3	3	144	1	0	0	0	0	1	0	0	0	16297	159	6	3	1422	3	TMPO	12	98927443	Missense_Mutation	SNP	A	TCGA-DU-A76O-01A-11D-A32B-08	50738822	98927443	34924452	21	22286											
DNAH10	196385	broad.mit.edu	37	12	124267721	124267721	+	Silent	SNP	G	G	A			TCGA-DU-A76O-01A-11D-A32B-08	TCGA-DU-A76O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a03bd35f-7f26-469d-b875-8b05b08087b3	61655cba-e339-4aa1-a454-540ab08dc5cb	g.chr12:124267721G>A	ENST00000409039.3	+	7	751	c.726G>A	c.(724-726)ccG>ccA	p.P242P		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	242	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		CAGCTGACCCGGAAACCGTTG	0.478													4	48					0	0	1	0	0	A	124267721	G	A	124267721	2	1	144	1	0	0	0	0	0	0	0	1	4626	1103	39	1		1	DNAH10	12	124267721	Silent	SNP	G	TCGA-DU-A76O-01A-11D-A32B-08	25340278	124267721	9584174	22	22287											
SPG11	80208	broad.mit.edu	37	15	44951348	44951348	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-A76O-01A-11D-A32B-08	TCGA-DU-A76O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a03bd35f-7f26-469d-b875-8b05b08087b3	61655cba-e339-4aa1-a454-540ab08dc5cb	g.chr15:44951348G>C	ENST00000261866.7	-	3	612	c.596C>G	c.(595-597)gCa>gGa	p.A199G	SPG11_ENST00000427534.2_Missense_Mutation_p.A199G|SPG11_ENST00000559193.1_Missense_Mutation_p.A199G|SPG11_ENST00000535302.2_Missense_Mutation_p.A199G|SPG11_ENST00000558319.1_Missense_Mutation_p.A199G	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	199					cell death	cytosol|integral to membrane|nucleus	protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		CATGTCCACTGCCTGTGCAGG	0.408													47	51					0	0	1	0	0	C	44951348	G	C	44951348	3	2	144	1	0	0	0	0	1	0	0	0	15097	1319	46	5	6887	5	SPG11	15	44951348	Missense_Mutation	SNP	G	TCGA-DU-A76O-01A-11D-A32B-08		44951348	57580044	23	22288											
SLC28A2	9153	broad.mit.edu	37	15	45559992	45559992	+	Silent	SNP	T	T	C			TCGA-DU-A76O-01A-11D-A32B-08	TCGA-DU-A76O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a03bd35f-7f26-469d-b875-8b05b08087b3	61655cba-e339-4aa1-a454-540ab08dc5cb	g.chr15:45559992T>C	ENST00000347644.3	+	12	1262	c.1197T>C	c.(1195-1197)cgT>cgC	p.R399R	CTD-2651B20.3_ENST00000561404.1_RNA|CTD-2651B20.3_ENST00000560344.1_RNA	NM_004212.3	NP_004203.2	O43868	S28A2_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 2	399					nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding|nucleoside:sodium symporter activity|purine nucleoside transmembrane transporter activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(4)|skin(1)	26		all_cancers(109;8.53e-07)|all_epithelial(112;1.39e-05)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;3.77e-16)|GBM - Glioblastoma multiforme(94;2.71e-06)		AGCTGCCCCGTGGGTGAGTCC	0.547													4	123					0	0	1	0	0	C	45559992	T	C	45559992	2	2	144	1	0	0	0	0	0	0	0	1	14587	1683	59	3		3	SLC28A2	15	45559992	Silent	SNP	T	TCGA-DU-A76O-01A-11D-A32B-08	608644	45559992	56971400	24	22289											
SPESP1	246777	broad.mit.edu	37	15	69238040	69238040	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-A76O-01A-11D-A32B-08	TCGA-DU-A76O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a03bd35f-7f26-469d-b875-8b05b08087b3	61655cba-e339-4aa1-a454-540ab08dc5cb	g.chr15:69238040A>C	ENST00000310673.3	+	2	321	c.167A>C	c.(166-168)aAa>aCa	p.K56T	SPESP1_ENST00000560188.1_3'UTR|NOX5_ENST00000455873.3_Intron|NOX5_ENST00000448182.3_Intron|NOX5_ENST00000260364.5_Intron|RP11-809H16.2_ENST00000557966.1_RNA	NM_145658.3	NP_663633.1	Q6UW49	SPESP_HUMAN	sperm equatorial segment protein 1	56					multicellular organismal development	acrosomal vesicle				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	19						GGTCGTGAGAAAAAATCTAAC	0.378													18	77					0	0	1	0	0	C	69238040	A	C	69238040	3	2	144	1	0	0	0	0	1	0	0	0	15096	14	1	5	173	5	SPESP1	15	69238040	Missense_Mutation	SNP	A	TCGA-DU-A76O-01A-11D-A32B-08	23678048	69238040	33293352	25	22290											
TP53	7157	broad.mit.edu	37	17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	rs121913343		TCGA-DU-A76O-01A-11D-A32B-08	TCGA-DU-A76O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a03bd35f-7f26-469d-b875-8b05b08087b3	61655cba-e339-4aa1-a454-540ab08dc5cb	g.chr17:7577121G>A	ENST00000420246.2	-	8	949	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000269305.4_Missense_Mutation_p.R273C|TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	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).		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.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			20	3					0	0	1	0	0	A	7577121	G	A	7577121	3	1	144	1	0	0	0	0	1	0	0	0	16442	1087	38	1	469	1	TP53	17	7577121	Missense_Mutation	SNP	G	TCGA-DU-A76O-01A-11D-A32B-08		7577121	73618089	26	22291											
C17orf70	80233	broad.mit.edu	37	17	79511038	79511038	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A76O-01A-11D-A32B-08	TCGA-DU-A76O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a03bd35f-7f26-469d-b875-8b05b08087b3	61655cba-e339-4aa1-a454-540ab08dc5cb	g.chr17:79511038G>A	ENST00000537152.1	-	7	2491	c.1966C>T	c.(1966-1968)Cgc>Tgc	p.R656C	C17orf70_ENST00000327787.8_Missense_Mutation_p.R807C|C17orf70_ENST00000425898.2_Missense_Mutation_p.R456C	NM_025161.5	NP_079437.5	Q0VG06	FP100_HUMAN	chromosome 17 open reading frame 70	807					DNA repair	cytoplasm|intermediate filament cytoskeleton|nucleoplasm	DNA binding			breast(1)|central_nervous_system(1)|endometrium(1)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	19	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)			ACCTGCATGCGCCCGACAACG	0.642													10	33					0	0	1	0	0	A	79511038	G	A	79511038	3	1	144	1	0	0	0	0	1	0	0	0	1886	1087	38	1	238	1	C17orf70	17	79511038	Missense_Mutation	SNP	G	TCGA-DU-A76O-01A-11D-A32B-08	71933917	79511038	1684172	27	22292											
CETN1	1068	broad.mit.edu	37	18	580584	580584	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A76O-01A-11D-A32B-08	TCGA-DU-A76O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a03bd35f-7f26-469d-b875-8b05b08087b3	61655cba-e339-4aa1-a454-540ab08dc5cb	g.chr18:580584C>T	ENST00000327228.3	+	1	218	c.176C>T	c.(175-177)gCg>gTg	p.A59V		NM_004066.1	NP_004057.1	Q12798	CETN1_HUMAN	centrin, EF-hand protein, 1	59	EF-hand 1.				cell division|mitosis	spindle pole	ATP binding|ATP-dependent helicase activity|calcium ion binding|nucleic acid binding			breast(2)|cervix(1)|endometrium(3)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(2)	25						GCCATGAGAGCGCTGGGCTTC	0.552													3	40					0	0	1	0	0	T	580584	C	T	580584	3	4	144	1	0	0	0	0	1	0	0	0	3296	768	27	1	178	1	CETN1	18	580584	Missense_Mutation	SNP	C	TCGA-DU-A76O-01A-11D-A32B-08		580584	77496664	28	22293											
SNRPD2	6633	broad.mit.edu	37	19	46191718	46191721	+	Frame_Shift_Del	DEL	TGAC	TGAC	-			TCGA-DU-A76O-01A-11D-A32B-08	TCGA-DU-A76O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a03bd35f-7f26-469d-b875-8b05b08087b3	61655cba-e339-4aa1-a454-540ab08dc5cb	g.chr19:46191718_46191721delTGAC	ENST00000342669.3	-	2	550_553	c.106_109delGTCA	c.(106-111)gtcaagfs	p.VK36fs	SNRPD2_ENST00000588301.1_Frame_Shift_Del_p.VK36fs|SNRPD2_ENST00000587367.1_Frame_Shift_Del_p.VK26fs|SNRPD2_ENST00000588599.1_Frame_Shift_Del_p.VK26fs|SNRPD2_ENST00000585392.1_5'UTR|SNRPD2_ENST00000590212.1_Frame_Shift_Del_p.VK36fs|SNRPD2_ENST00000391932.3_Frame_Shift_Del_p.VK26fs	NM_004597.5	NP_004588.1	P62316	SMD2_HUMAN	small nuclear ribonucleoprotein D2 polypeptide 16.5kDa	36					ncRNA metabolic process|spliceosomal snRNP assembly|spliceosome assembly	catalytic step 2 spliceosome|cytosol|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex	protein binding			breast(1)|large_intestine(1)|lung(2)	4		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00546)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.194)		GTATTGTTCTTGACTGACTGTGTG	0.544													11	126	---	---	---	---						-	46191721	TGAC	-	46191718	7	5	144	1	0	1	0	1	0	0	0	0	14919	1821	63	0	255	0	SNRPD2	19	46191718	Frame_Shift_Del	DEL	TGAC	TCGA-DU-A76O-01A-11D-A32B-08		46191718	12937265	29	22294											
LILRB3	11025	broad.mit.edu	37	19	54726381	54726381	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A76O-01A-11D-A32B-08	TCGA-DU-A76O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a03bd35f-7f26-469d-b875-8b05b08087b3	61655cba-e339-4aa1-a454-540ab08dc5cb	g.chr19:54726381C>T	ENST00000391750.1	-	4	260	c.124G>A	c.(124-126)Ggg>Agg	p.G42R	LILRA6_ENST00000419410.2_Intron|LILRB3_ENST00000245620.9_Missense_Mutation_p.G42R|LILRA6_ENST00000440558.2_Intron|LILRA6_ENST00000270464.5_Intron|LILRB3_ENST00000407860.2_Intron|LILRB3_ENST00000346401.6_Missense_Mutation_p.G42R|LILRA6_ENST00000391735.3_Intron|LILRB3_ENST00000424807.1_Missense_Mutation_p.G42R			O75022	LIRB3_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 3	42	Ig-like C2-type 1.				cell surface receptor linked signaling pathway|defense response	integral to plasma membrane	transmembrane receptor activity			endometrium(3)|kidney(13)|large_intestine(1)|lung(6)|ovary(2)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	34	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		ACGGGGCTCCCCCAGCTGATC	0.602													9	69					0	0	1	0	0	T	54726381	C	T	54726381	3	4	144	1	0	0	0	0	1	0	0	0	8832	623	22	2	1818	2	LILRB3	19	54726381	Missense_Mutation	SNP	C	TCGA-DU-A76O-01A-11D-A32B-08	8534663	54726381	4402602	30	22295											
ZFP64	55734	broad.mit.edu	37	20	50701439	50701439	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A76O-01A-11D-A32B-08	TCGA-DU-A76O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a03bd35f-7f26-469d-b875-8b05b08087b3	61655cba-e339-4aa1-a454-540ab08dc5cb	g.chr20:50701439G>A	ENST00000361387.2	-	9	1655	c.1595C>T	c.(1594-1596)aCg>aTg	p.T532M	ZFP64_ENST00000371518.2_Intron|ZFP64_ENST00000371523.4_Missense_Mutation_p.T313M	NM_199427.2	NP_955459.2	Q9NPA5	ZF64A_HUMAN	ZFP64 zinc finger protein	380					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						GGGCCGCTTCGTGTCGAAGCT	0.647													14	35					0	0	1	0	0	A	50701439	G	A	50701439	3	1	144	1	0	0	0	0	1	0	0	0	17710	1145	40	1	346	1	ZFP64	20	50701439	Missense_Mutation	SNP	G	TCGA-DU-A76O-01A-11D-A32B-08		50701439	12324081	31	22296											
KRTAP10-5	386680	broad.mit.edu	37	21	46000097	46000097	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-A76O-01A-11D-A32B-08	TCGA-DU-A76O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a03bd35f-7f26-469d-b875-8b05b08087b3	61655cba-e339-4aa1-a454-540ab08dc5cb	g.chr21:46000097C>A	ENST00000400372.1	-	1	384	c.359G>T	c.(358-360)tGc>tTc	p.C120F	TSPEAR_ENST00000323084.4_Intron	NM_198694.2	NP_941967.2	P60370	KR105_HUMAN	keratin associated protein 10-5	120	22 X 5 AA repeats of C-C-X(3).					keratin filament				endometrium(2)|kidney(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	14						AGAGGCACAGCAAGTTGGCTG	0.607													4	151					1	1	1	1	0	A	46000097	C	A	46000097	3	1	144	1	0	0	0	0	1	0	0	0	8555	710	25	5	460	5	KRTAP10-5	21	46000097	Missense_Mutation	SNP	C	TCGA-DU-A76O-01A-11D-A32B-08		46000097	2129798	32	22297											
ATRX	546	broad.mit.edu	37	X	76874351	76874351	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-A76O-01A-11D-A32B-08	TCGA-DU-A76O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a03bd35f-7f26-469d-b875-8b05b08087b3	61655cba-e339-4aa1-a454-540ab08dc5cb	g.chrX:76874351C>A	ENST00000373344.5	-	21	5585	c.5371G>T	c.(5371-5373)Gat>Tat	p.D1791Y	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.D1753Y	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1791					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)	ATGGTAGAATCTGCACACTGA	0.338			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						16	15					1.02788e-11	1.14469e-11	1	1	0	A	76874351	C	A	76874351	3	1	144	1	0	0	0	0	1	0	0	0	1206	913	32	4	2167	4	ATRX	23	76874351	Missense_Mutation	SNP	C	TCGA-DU-A76O-01A-11D-A32B-08		76874351	78396209	33	22298											
ATRX	546	broad.mit.edu	37	X	76890194	76890194	+	Splice_Site	SNP	C	C	T			TCGA-DU-A76O-01A-11D-A32B-08	TCGA-DU-A76O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a03bd35f-7f26-469d-b875-8b05b08087b3	61655cba-e339-4aa1-a454-540ab08dc5cb	g.chrX:76890194C>T	ENST00000373344.5	-	17	4914	c.4700G>A	c.(4699-4701)gGt>gAt	p.G1567D	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Splice_Site_p.G1529D	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1567					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)	AAACTGAACACCTAAAAATAA	0.353			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						4	67					0	0	1	0	0	T	76890194	C	T	76890194	5	4	144	1	0	0	0	0	0	0	1	0	1206	521	18	2	2854	2	ATRX	23	76890194	Splice_Site	SNP	C	TCGA-DU-A76O-01A-11D-A32B-08	15843	76890194	78380366	34	22299											
ATRX	546	broad.mit.edu	37	X	76938029	76938029	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-A76O-01A-11D-A32B-08	TCGA-DU-A76O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a03bd35f-7f26-469d-b875-8b05b08087b3	61655cba-e339-4aa1-a454-540ab08dc5cb	g.chrX:76938029G>A	ENST00000373344.5	-	9	2933	c.2719C>T	c.(2719-2721)Cga>Tga	p.R907*	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Nonsense_Mutation_p.R869*	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	907					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)|p.R907*(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)	TTAGGAAGTCGATCTCTTAAT	0.418			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						15	104					0	0	1	0	0	A	76938029	G	A	76938029	4	1	144	1	0	0	0	0	0	1	0	0	1206	1066	37	1	4867	1	ATRX	23	76938029	Nonsense_Mutation	SNP	G	TCGA-DU-A76O-01A-11D-A32B-08	47835	76938029	78332531	35	22300											
HS6ST2	90161	broad.mit.edu	37	X	131762930	131762930	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-A76O-01A-11D-A32B-08	TCGA-DU-A76O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a03bd35f-7f26-469d-b875-8b05b08087b3	61655cba-e339-4aa1-a454-540ab08dc5cb	g.chrX:131762930T>C	ENST00000370836.2	-	4	1554	c.1139A>G	c.(1138-1140)gAc>gGc	p.D380G	HS6ST2_ENST00000370833.2_Missense_Mutation_p.D274G|HS6ST2_ENST00000406696.3_Missense_Mutation_p.D106G|HS6ST2_ENST00000521489.1_Missense_Mutation_p.D420G	NM_147175.3	NP_671704.3	Q96MM7	H6ST2_HUMAN	heparan sulfate 6-O-sulfotransferase 2	380						integral to membrane	sulfotransferase activity			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(2)	9	Acute lymphoblastic leukemia(192;0.000127)					GTAGGGACAGTCCATAAACTC	0.567													8	18					0	0	1	0	0	C	131762930	T	C	131762930	3	2	144	1	0	0	0	0	1	0	0	0	7412	1667	58	3	682	3	HS6ST2	23	131762930	Missense_Mutation	SNP	T	TCGA-DU-A76O-01A-11D-A32B-08	54824901	131762930	23507630	36	22301											
FMR1	2332	broad.mit.edu	37	X	147026489	147026489	+	Frame_Shift_Del	DEL	C	C	-	rs143889976	byFrequency	TCGA-DU-A76O-01A-11D-A32B-08	TCGA-DU-A76O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a03bd35f-7f26-469d-b875-8b05b08087b3	61655cba-e339-4aa1-a454-540ab08dc5cb	g.chrX:147026489delC	ENST00000218200.8	+	14	1738	c.1509delC	c.(1507-1509)agcfs	p.S503fs	FMR1_ENST00000439526.2_Frame_Shift_Del_p.S501fs|FMR1_ENST00000370470.1_Frame_Shift_Del_p.S499fs|FMR1_ENST00000370477.1_Frame_Shift_Del_p.S491fs|FMR1_ENST00000370475.4_Frame_Shift_Del_p.S524fs|FMR1_ENST00000370471.3_Frame_Shift_Del_p.A434fs|FMR1_ENST00000440235.2_Frame_Shift_Del_p.S171fs	NM_001185076.1|NM_001185082.1	NP_001172005.1|NP_001172011.1	Q06787	FMR1_HUMAN	fragile X mental retardation 1	524	Interaction with RANBP9.				mRNA transport|negative regulation of translational initiation	cytoplasm|mRNA cap binding complex|nucleolus|nucleoplasm|soluble fraction	mRNA binding|protein binding			NS(1)|breast(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	35	Acute lymphoblastic leukemia(192;6.56e-05)					AGAGGGAGAGCTTCCTGCGCA	0.512									Fragile X syndrome				2	4	---	---	---	---						-	147026489	C	-	147026489	7	5	144	1	0	1	0	1	0	0	0	0	5993	797	28	0	1630	0	FMR1	23	147026489	Frame_Shift_Del	DEL	C	TCGA-DU-A76O-01A-11D-A32B-08	15263559	147026489	8244071	37	22302											
SRM	6723	broad.mit.edu	37	1	11115092	11115092	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A76R-01A-11D-A32B-08	TCGA-DU-A76R-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd703fa-227d-40f8-962b-53c746b2c372	43476bb5-3d68-4d0c-9e1a-2937705a654b	g.chr1:11115092G>A	ENST00000376957.2	-	7	895	c.815C>T	c.(814-816)gCg>gTg	p.A272V		NM_003132.2	NP_003123.2	P19623	SPEE_HUMAN	spermidine synthase	272					spermidine biosynthetic process	cytosol	protein homodimerization activity|spermidine synthase activity			large_intestine(1)|lung(1)|urinary_tract(1)	3	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.228)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.14e-07)|COAD - Colon adenocarcinoma(227;7.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192)	S-Adenosylmethionine(DB00118)|Spermine(DB00127)	CTGCATCTGCGCCACCTGCTG	0.632													22	7					0	0	1	0	0	A	11115092	G	A	11115092	3	1	145	1	0	0	0	0	1	0	0	0	15207	1087	38	1	101	1	SRM	1	11115092	Missense_Mutation	SNP	G	TCGA-DU-A76R-01A-11D-A32B-08		11115092	238135529	1	22303											
PAPPA2	60676	broad.mit.edu	37	1	176525894	176525894	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A76R-01A-11D-A32B-08	TCGA-DU-A76R-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd703fa-227d-40f8-962b-53c746b2c372	43476bb5-3d68-4d0c-9e1a-2937705a654b	g.chr1:176525894G>A	ENST00000367662.3	+	2	1600	c.436G>A	c.(436-438)Gct>Act	p.A146T	PAPPA2_ENST00000367661.3_Missense_Mutation_p.A146T	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	146					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						AGATGATGACGCTTATCTCGG	0.542													14	91					0	0	1	0	0	A	176525894	G	A	176525894	3	1	145	1	0	0	0	0	1	0	0	0	11480	1087	38	1	438	1	PAPPA2	1	176525894	Missense_Mutation	SNP	G	TCGA-DU-A76R-01A-11D-A32B-08	165410802	176525894	72724727	2	22304											
CFHR4	10877	broad.mit.edu	37	1	196871561	196871561	+	Silent	SNP	T	T	C			TCGA-DU-A76R-01A-11D-A32B-08	TCGA-DU-A76R-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd703fa-227d-40f8-962b-53c746b2c372	43476bb5-3d68-4d0c-9e1a-2937705a654b	g.chr1:196871561T>C	ENST00000367416.2	+	2	206	c.69T>C	c.(67-69)tgT>tgC	p.C23C	CFHR4_ENST00000367418.2_Silent_p.C24C|CFHR4_ENST00000251424.4_Silent_p.C24C|CFHR4_ENST00000608469.1_Intron|CFHR2_ENST00000367421.3_Intron	NM_001201550.2|NM_001201551.1	NP_001188479.1|NP_001188480.1			complement factor H-related 4									p.C24*(1)|p.C23*(1)		NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	36						TGAAACCTTGTGATTTTCCAG	0.279													6	96					0	0	1	0	0	C	196871561	T	C	196871561	2	2	145	1	0	0	0	0	0	0	0	1	3309	1702	59	3		3	CFHR4	1	196871561	Silent	SNP	T	TCGA-DU-A76R-01A-11D-A32B-08	20345667	196871561	52379060	3	22305											
TRAF5	7188	broad.mit.edu	37	1	211526628	211526628	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A76R-01A-11D-A32B-08	TCGA-DU-A76R-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd703fa-227d-40f8-962b-53c746b2c372	43476bb5-3d68-4d0c-9e1a-2937705a654b	g.chr1:211526628G>A	ENST00000336184.2	+	2	107	c.47G>A	c.(46-48)cGc>cAc	p.R16H	TRAF5_ENST00000367004.3_Missense_Mutation_p.R16H|TRAF5_ENST00000261464.5_Missense_Mutation_p.R16H|TRAF5_ENST00000462410.1_3'UTR|TRAF5_ENST00000427925.2_Missense_Mutation_p.R16H	NM_004619.3	NP_004610.1	O00463	TRAF5_HUMAN	TNF receptor-associated factor 5	16					apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis	CD40 receptor complex|centrosome|internal side of plasma membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				OV - Ovarian serous cystadenocarcinoma(81;0.00946)|all cancers(67;0.0808)|Epithelial(68;0.144)		GGTTTCATCCGCCAGAATTCC	0.483											OREG0014232	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	18	102					0	0	1	0	0	A	211526628	G	A	211526628	3	1	145	1	0	0	0	0	1	0	0	0	16505	1087	38	1	49	1	TRAF5	1	211526628	Missense_Mutation	SNP	G	TCGA-DU-A76R-01A-11D-A32B-08	14655067	211526628	37723993	4	22306											
ITPKB	3707	broad.mit.edu	37	1	226924704	226924704	+	Silent	SNP	C	C	T			TCGA-DU-A76R-01A-11D-A32B-08	TCGA-DU-A76R-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd703fa-227d-40f8-962b-53c746b2c372	43476bb5-3d68-4d0c-9e1a-2937705a654b	g.chr1:226924704C>T	ENST00000429204.1	-	2	783	c.456G>A	c.(454-456)gcG>gcA	p.A152A	ITPKB_ENST00000366784.1_Silent_p.A152A|ITPKB_ENST00000272117.3_Silent_p.A152A	NM_002221.3	NP_002212.3	P27987	IP3KB_HUMAN	inositol-trisphosphate 3-kinase B	152							ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity	p.A152A(1)		central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(1)	30		Prostate(94;0.0773)				CCTGGATGTGCGCCTCAAACA	0.667													19	73					0	0	1	0	0	T	226924704	C	T	226924704	2	4	145	1	0	0	0	0	0	0	0	1	7962	755	27	1		1	ITPKB	1	226924704	Silent	SNP	C	TCGA-DU-A76R-01A-11D-A32B-08	15398076	226924704	22325917	5	22307											
DNAH7	56171	broad.mit.edu	37	2	196728873	196728873	+	Splice_Site	SNP	C	C	T			TCGA-DU-A76R-01A-11D-A32B-08	TCGA-DU-A76R-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd703fa-227d-40f8-962b-53c746b2c372	43476bb5-3d68-4d0c-9e1a-2937705a654b	g.chr2:196728873C>T	ENST00000312428.6	-	41	7606	c.7506G>A	c.(7504-7506)caG>caA	p.Q2502Q		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2502	AAA 4 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						ATGACAATACCTGAAACCAGT	0.388													18	23					0	0	1	0	0	T	196728873	C	T	196728873	5	4	145	1	0	0	0	0	0	0	1	0	4633	695	24	2	4668	2	DNAH7	2	196728873	Splice_Site	SNP	C	TCGA-DU-A76R-01A-11D-A32B-08		196728873	46470500	6	22308											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-DU-A76R-01A-11D-A32B-08	TCGA-DU-A76R-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd703fa-227d-40f8-962b-53c746b2c372	43476bb5-3d68-4d0c-9e1a-2937705a654b	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								18	32					0	0	1	0	0	T	209113112	C	T	209113112	3	4	145	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-DU-A76R-01A-11D-A32B-08	12384239	209113112	34086261	7	22309											
NISCH	11188	broad.mit.edu	37	3	52525392	52525392	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A76R-01A-11D-A32B-08	TCGA-DU-A76R-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd703fa-227d-40f8-962b-53c746b2c372	43476bb5-3d68-4d0c-9e1a-2937705a654b	g.chr3:52525392C>T	ENST00000345716.4	+	20	3901	c.3767C>T	c.(3766-3768)aCg>aTg	p.T1256M	NISCH_ENST00000479054.1_Missense_Mutation_p.T1256M	NM_007184.3	NP_009115	Q9Y2I1	NISCH_HUMAN	nischarin	1256					apoptosis|cell communication	cytosol|early endosome|plasma membrane|recycling endosome	phosphatidylinositol binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)		CAGGTGGTCACGTGCTTGACG	0.667													12	14					0	0	1	0	0	T	52525392	C	T	52525392	3	4	145	1	0	0	0	0	1	0	0	0	10479	536	19	1	3845	1	NISCH	3	52525392	Missense_Mutation	SNP	C	TCGA-DU-A76R-01A-11D-A32B-08		52525392	145497038	8	22310											
MYH15	22989	broad.mit.edu	37	3	108117645	108117645	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A76R-01A-11D-A32B-08	TCGA-DU-A76R-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd703fa-227d-40f8-962b-53c746b2c372	43476bb5-3d68-4d0c-9e1a-2937705a654b	g.chr3:108117645C>T	ENST00000273353.3	-	36	5088	c.5032G>A	c.(5032-5034)Gat>Aat	p.D1678N		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	1678						myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						TCCTTCAGATCACTGTTCAGT	0.522													10	140					0	0	1	0	0	T	108117645	C	T	108117645	3	4	145	1	0	0	0	0	1	0	0	0	10082	826	29	2	836	2	MYH15	3	108117645	Missense_Mutation	SNP	C	TCGA-DU-A76R-01A-11D-A32B-08	55592253	108117645	89904785	9	22311											
DZIP3	9666	broad.mit.edu	37	3	108353774	108353774	+	Silent	SNP	C	C	T			TCGA-DU-A76R-01A-11D-A32B-08	TCGA-DU-A76R-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd703fa-227d-40f8-962b-53c746b2c372	43476bb5-3d68-4d0c-9e1a-2937705a654b	g.chr3:108353774C>T	ENST00000361582.3	+	10	1103	c.873C>T	c.(871-873)tgC>tgT	p.C291C	DZIP3_ENST00000463306.1_Silent_p.C291C	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN	DAZ interacting zinc finger protein 3	291					protein polyubiquitination	cytoplasm	polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						ATAAAATTTGCTGGAAAAAGT	0.308													3	42					0	0	1	0	0	T	108353774	C	T	108353774	2	4	145	1	0	0	0	0	0	0	0	1	4891	805	28	2		2	DZIP3	3	108353774	Silent	SNP	C	TCGA-DU-A76R-01A-11D-A32B-08	236129	108353774	89668656	10	22312											
SLITRK3	22865	broad.mit.edu	37	3	164907773	164907773	+	Silent	SNP	G	G	T			TCGA-DU-A76R-01A-11D-A32B-08	TCGA-DU-A76R-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd703fa-227d-40f8-962b-53c746b2c372	43476bb5-3d68-4d0c-9e1a-2937705a654b	g.chr3:164907773G>T	ENST00000475390.1	-	2	1289	c.846C>A	c.(844-846)ccC>ccA	p.P282P	SLITRK3_ENST00000241274.3_Silent_p.P282P			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	282	LRRCT 1.					integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						CAGACAACAAGGGACAGAGTT	0.478										HNSCC(40;0.11)			13	57					2.27111e-07	2.34321e-07	1	1	0	T	164907773	G	T	164907773	2	4	145	1	0	0	0	0	0	0	0	1	14798	987	35	4		4	SLITRK3	3	164907773	Silent	SNP	G	TCGA-DU-A76R-01A-11D-A32B-08	56553999	164907773	33114657	11	22313											
PIK3CA	5290	broad.mit.edu	37	3	178916944	178916944	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-A76R-01A-11D-A32B-08	TCGA-DU-A76R-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd703fa-227d-40f8-962b-53c746b2c372	43476bb5-3d68-4d0c-9e1a-2937705a654b	g.chr3:178916944A>G	ENST00000263967.3	+	2	488	c.331A>G	c.(331-333)Aag>Gag	p.K111E		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	111					epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.K111E(13)|p.K111_L113delKIL(2)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			CCGTGAAGAAAAGATCCTCAA	0.333		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			33	48					0	0	1	0	0	G	178916944	A	G	178916944	3	3	145	1	0	0	0	0	1	0	0	0	11961	15	1	3	333	3	PIK3CA	3	178916944	Missense_Mutation	SNP	A	TCGA-DU-A76R-01A-11D-A32B-08	14009171	178916944	19105486	12	22314											
SLC2A9	56606	broad.mit.edu	37	4	9998546	9998546	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-A76R-01A-11D-A32B-08	TCGA-DU-A76R-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd703fa-227d-40f8-962b-53c746b2c372	43476bb5-3d68-4d0c-9e1a-2937705a654b	g.chr4:9998546T>C	ENST00000506583.1	-	5	399	c.182A>G	c.(181-183)aAt>aGt	p.N61S	SLC2A9_ENST00000264784.3_Missense_Mutation_p.N90S|SLC2A9_ENST00000309065.3_Missense_Mutation_p.N61S			Q9NRM0	GTR9_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 9	90					glucose transport|urate metabolic process	integral to membrane|plasma membrane	sugar:hydrogen symporter activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(1)	35						CCATGACTCATTGTAAAAGGC	0.443													5	72					0	0	1	0	0	C	9998546	T	C	9998546	3	2	145	1	0	0	0	0	1	0	0	0	14607	1493	52	3	1393	3	SLC2A9	4	9998546	Missense_Mutation	SNP	T	TCGA-DU-A76R-01A-11D-A32B-08		9998546	181155730	13	22315											
LARP7	51574	broad.mit.edu	37	4	113565994	113565994	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-A76R-01A-11D-A32B-08	TCGA-DU-A76R-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd703fa-227d-40f8-962b-53c746b2c372	43476bb5-3d68-4d0c-9e1a-2937705a654b	g.chr4:113565994C>A	ENST00000509061.1	+	4	493	c.190C>A	c.(190-192)Ctt>Att	p.L64I	LARP7_ENST00000344442.5_Missense_Mutation_p.L57I|LARP7_ENST00000324052.6_Missense_Mutation_p.L57I	NM_001267039.1	NP_001253968.1	Q4G0J3	LARP7_HUMAN	La ribonucleoprotein domain family, member 7	57	HTH La-type RNA-binding.				RNA processing	nucleoplasm|ribonucleoprotein complex	nucleotide binding|RNA binding			endometrium(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	17		Ovarian(17;0.0443)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000603)		GGATAGATTTCTTCGAGAACA	0.343													16	50					1.45105e-14	1.52126e-14	1	1	0	A	113565994	C	A	113565994	3	1	145	1	0	0	0	0	1	0	0	0	8672	913	32	4	171	4	LARP7	4	113565994	Missense_Mutation	SNP	C	TCGA-DU-A76R-01A-11D-A32B-08	103567448	113565994	77588282	14	22316											
ARHGAP10	79658	broad.mit.edu	37	4	148985641	148985641	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A76R-01A-11D-A32B-08	TCGA-DU-A76R-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd703fa-227d-40f8-962b-53c746b2c372	43476bb5-3d68-4d0c-9e1a-2937705a654b	g.chr4:148985641G>A	ENST00000336498.3	+	22	2494	c.2255G>A	c.(2254-2256)gGa>gAa	p.G752E	ARHGAP10_ENST00000414545.2_Missense_Mutation_p.G350E	NM_024605.3	NP_078881.3	A1A4S6	RHG10_HUMAN	Rho GTPase activating protein 10	752	SH3.				apoptosis|filopodium assembly|regulation of apoptosis|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm|plasma membrane	cytoskeletal adaptor activity|SH3 domain binding			autonomic_ganglia(2)|endometrium(5)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33	all_hematologic(180;0.151)	Renal(17;0.0166)		GBM - Glioblastoma multiforme(119;0.0423)		TTTGAAATAGGAGCAATTTTT	0.463													7	25					0	0	1	0	0	A	148985641	G	A	148985641	3	1	145	1	0	0	0	0	1	0	0	0	859	1174	41	2	2341	2	ARHGAP10	4	148985641	Missense_Mutation	SNP	G	TCGA-DU-A76R-01A-11D-A32B-08	35419647	148985641	42168635	15	22317											
ASB5	140458	broad.mit.edu	37	4	177142621	177142621	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A76R-01A-11D-A32B-08	TCGA-DU-A76R-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd703fa-227d-40f8-962b-53c746b2c372	43476bb5-3d68-4d0c-9e1a-2937705a654b	g.chr4:177142621G>A	ENST00000296525.3	-	4	628	c.515C>T	c.(514-516)aCg>aTg	p.T172M	ASB5_ENST00000512254.1_Missense_Mutation_p.T119M	NM_080874.3	NP_543150.1	Q8WWX0	ASB5_HUMAN	ankyrin repeat and SOCS box containing 5	172					intracellular signal transduction			p.T172M(1)		endometrium(2)|kidney(1)|large_intestine(9)|lung(18)|prostate(2)|skin(2)	34		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.13e-20)|Epithelial(43;9.94e-18)|OV - Ovarian serous cystadenocarcinoma(60;2e-09)|GBM - Glioblastoma multiforme(59;0.000254)|STAD - Stomach adenocarcinoma(60;0.000653)|LUSC - Lung squamous cell carcinoma(193;0.0393)		GGCCTCATGCGTTGGGGATGG	0.493													8	71					0	0	1	0	0	A	177142621	G	A	177142621	3	1	145	1	0	0	0	0	1	0	0	0	1025	1145	40	1	490	1	ASB5	4	177142621	Missense_Mutation	SNP	G	TCGA-DU-A76R-01A-11D-A32B-08	28156980	177142621	14011655	16	22318											
FOXI1	2299	broad.mit.edu	37	5	169533422	169533422	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A76R-01A-11D-A32B-08	TCGA-DU-A76R-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd703fa-227d-40f8-962b-53c746b2c372	43476bb5-3d68-4d0c-9e1a-2937705a654b	g.chr5:169533422C>T	ENST00000449804.2	+	1	506	c.461C>T	c.(460-462)gCc>gTc	p.A154V	FOXI1_ENST00000306268.6_Missense_Mutation_p.A154V	NM_012188.4|NM_144769.2	NP_036320.2|NP_658982.1	Q12951	FOXI1_HUMAN	forkhead box I1	154					epidermal cell fate specification|otic placode formation|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding			breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CAGTACGTGGCCGACAACTTC	0.612									Pendred syndrome				17	14					0	0	1	0	0	T	169533422	C	T	169533422	3	4	145	1	0	0	0	0	1	0	0	0	6043	739	26	2	463	2	FOXI1	5	169533422	Missense_Mutation	SNP	C	TCGA-DU-A76R-01A-11D-A32B-08		169533422	11381838	17	22319											
TAAR8	83551	broad.mit.edu	37	6	132874313	132874313	+	Missense_Mutation	SNP	C	C	T	rs140382740		TCGA-DU-A76R-01A-11D-A32B-08	TCGA-DU-A76R-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd703fa-227d-40f8-962b-53c746b2c372	43476bb5-3d68-4d0c-9e1a-2937705a654b	g.chr6:132874313C>T	ENST00000275200.1	+	1	482	c.482C>T	c.(481-483)aCg>aTg	p.T161M		NM_053278.1	NP_444508.1	Q969N4	TAAR8_HUMAN	trace amine associated receptor 8	161						plasma membrane	G-protein coupled receptor activity			endometrium(3)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.00412)|GBM - Glioblastoma multiforme(226;0.00792)		CTGCCTCTCACGTACAGCGGT	0.488													8	218					0	0	1	0	0	T	132874313	C	T	132874313	3	4	145	1	0	0	0	0	1	0	0	0	15550	536	19	1	484	1	TAAR8	6	132874313	Missense_Mutation	SNP	C	TCGA-DU-A76R-01A-11D-A32B-08		132874313	38240754	18	22320											
SGK1	6446	broad.mit.edu	37	6	134491421	134491421	+	Silent	SNP	C	C	T			TCGA-DU-A76R-01A-11D-A32B-08	TCGA-DU-A76R-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd703fa-227d-40f8-962b-53c746b2c372	43476bb5-3d68-4d0c-9e1a-2937705a654b	g.chr6:134491421C>T	ENST00000367858.5	-	14	2163	c.1566G>A	c.(1564-1566)acG>acA	p.T522T	SGK1_ENST00000475719.2_Silent_p.T383T|SGK1_ENST00000237305.7_Silent_p.T427T|SGK1_ENST00000413996.3_Silent_p.T441T|SGK1_ENST00000528577.1_Silent_p.T455T|SGK1_ENST00000367857.5_Silent_p.T417T	NM_001143676.1	NP_001137148.1	O00141	SGK1_HUMAN	serum/glucocorticoid regulated kinase 1	427					apoptosis|response to stress|sodium ion transport	endoplasmic reticulum|nucleus|plasma membrane	ATP binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(21)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(4)|stomach(1)	46	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00317)|GBM - Glioblastoma multiforme(68;0.00847)		GGAAAGAGTCCGTGGGAGGCG	0.527													8	27					0	0	1	0	0	T	134491421	C	T	134491421	2	4	145	1	0	0	0	0	0	0	0	1	14261	639	23	1		1	SGK1	6	134491421	Silent	SNP	C	TCGA-DU-A76R-01A-11D-A32B-08	1617108	134491421	36623646	19	22321											
NCF1	653361	broad.mit.edu	37	7	74193659	74193659	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A76R-01A-11D-A32B-08	TCGA-DU-A76R-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd703fa-227d-40f8-962b-53c746b2c372	43476bb5-3d68-4d0c-9e1a-2937705a654b	g.chr7:74193659G>A	ENST00000289473.4	+	4	356	c.286G>A	c.(286-288)Gag>Aag	p.E96K	NCF1_ENST00000443956.3_3'UTR	NM_000265.4	NP_000256.4	P14598	NCF1_HUMAN	neutrophil cytosolic factor 1	96	PX.				cell communication|cellular defense response|innate immune response|protein targeting to membrane|respiratory burst|superoxide anion generation	cytosol|NADPH oxidase complex|soluble fraction	electron carrier activity|GTP binding|GTPase activity|phosphatidylinositol binding|SH3 domain binding|superoxide-generating NADPH oxidase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|skin(3)	10						CACACTTACCGAGTACTGCGG	0.642													4	6					0	0	1	0	0	A	74193659	G	A	74193659	3	1	145	1	0	0	0	0	1	0	0	0	10263	1059	37	1	300	1	NCF1	7	74193659	Missense_Mutation	SNP	G	TCGA-DU-A76R-01A-11D-A32B-08		74193659	84945004	20	22322											
GRM3	2913	broad.mit.edu	37	7	86415889	86415889	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-A76R-01A-11D-A32B-08	TCGA-DU-A76R-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd703fa-227d-40f8-962b-53c746b2c372	43476bb5-3d68-4d0c-9e1a-2937705a654b	g.chr7:86415889C>T	ENST00000361669.2	+	3	1880	c.781C>T	c.(781-783)Cga>Tga	p.R261*	AC005009.2_ENST00000452471.1_RNA|GRM3_ENST00000546348.1_Intron|GRM3_ENST00000439827.1_Nonsense_Mutation_p.R261*|GRM3_ENST00000536043.1_Nonsense_Mutation_p.R133*|AC005009.2_ENST00000418031.1_RNA|GRM3_ENST00000394720.2_Nonsense_Mutation_p.R259*	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	261					synaptic transmission	integral to plasma membrane				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	CAGCGTGATCCGAGAACTGTT	0.652													9	38					0	0	1	0	0	T	86415889	C	T	86415889	4	4	145	1	0	0	0	0	0	1	0	0	6839	644	23	1	787	1	GRM3	7	86415889	Nonsense_Mutation	SNP	C	TCGA-DU-A76R-01A-11D-A32B-08	12222230	86415889	72722774	21	22323											
SAMD9	54809	broad.mit.edu	37	7	92733350	92733350	+	Silent	SNP	G	G	A			TCGA-DU-A76R-01A-11D-A32B-08	TCGA-DU-A76R-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd703fa-227d-40f8-962b-53c746b2c372	43476bb5-3d68-4d0c-9e1a-2937705a654b	g.chr7:92733350G>A	ENST00000379958.2	-	3	2330	c.2061C>T	c.(2059-2061)ggC>ggT	p.G687G		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	687						cytoplasm				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			ATGACACTTTGCCACCTCGAT	0.353													26	125					0	0	1	0	0	A	92733350	G	A	92733350	2	1	145	1	0	0	0	0	0	0	0	1	13878	1306	46	2		2	SAMD9	7	92733350	Silent	SNP	G	TCGA-DU-A76R-01A-11D-A32B-08	6317461	92733350	66405313	22	22324											
NRCAM	4897	broad.mit.edu	37	7	107823282	107823282	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A76R-01A-11D-A32B-08	TCGA-DU-A76R-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd703fa-227d-40f8-962b-53c746b2c372	43476bb5-3d68-4d0c-9e1a-2937705a654b	g.chr7:107823282G>A	ENST00000379028.3	-	23	2857	c.2387C>T	c.(2386-2388)aCa>aTa	p.T796I	NRCAM_ENST00000351718.4_Missense_Mutation_p.T780I|NRCAM_ENST00000413765.2_Missense_Mutation_p.T777I|NRCAM_ENST00000379024.4_Missense_Mutation_p.T777I|NRCAM_ENST00000379022.4_Missense_Mutation_p.T796I|NRCAM_ENST00000425651.2_Missense_Mutation_p.T796I			Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	796	Fibronectin type-III 2.				angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						AACCACAGATGTCCATTCATC	0.453													30	40					0	0	1	0	0	A	107823282	G	A	107823282	3	1	145	1	0	0	0	0	1	0	0	0	10692	1377	48	2	1601	2	NRCAM	7	107823282	Missense_Mutation	SNP	G	TCGA-DU-A76R-01A-11D-A32B-08	15089932	107823282	51315381	23	22325											
EPPK1	83481	broad.mit.edu	37	8	144945386	144945386	+	Missense_Mutation	SNP	G	G	A	rs142055364	by1000genomes	TCGA-DU-A76R-01A-11D-A32B-08	TCGA-DU-A76R-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd703fa-227d-40f8-962b-53c746b2c372	43476bb5-3d68-4d0c-9e1a-2937705a654b	g.chr8:144945386G>A	ENST00000525985.1	-	2	2107	c.2036C>T	c.(2035-2037)gCg>gTg	p.A679V				P58107	EPIPL_HUMAN	epiplakin 1	679						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)			CAGCAGCTTCGCGAACACATC	0.602													3	26					0	0	1	0	0	A	144945386	G	A	144945386	3	1	145	1	0	0	0	0	1	0	0	0	5218	1087	38	1	5230	1	EPPK1	8	144945386	Missense_Mutation	SNP	G	TCGA-DU-A76R-01A-11D-A32B-08		144945386	1418636	24	22326											
COMMD5	28991	broad.mit.edu	37	8	146076589	146076589	+	Silent	SNP	C	C	T			TCGA-DU-A76R-01A-11D-A32B-08	TCGA-DU-A76R-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd703fa-227d-40f8-962b-53c746b2c372	43476bb5-3d68-4d0c-9e1a-2937705a654b	g.chr8:146076589C>T	ENST00000450361.2	-	2	556	c.135G>A	c.(133-135)agG>agA	p.R45R	COMMD5_ENST00000402718.3_Silent_p.R45R|COMMD5_ENST00000305103.3_Silent_p.R45R	NM_001081003.1	NP_001074472.1	Q9GZQ3	COMD5_HUMAN	COMM domain containing 5	45						nucleus	protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|ovary(1)|pancreas(1)	11	all_cancers(97;1.14e-11)|all_epithelial(106;7.74e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;8.75e-39)|OV - Ovarian serous cystadenocarcinoma(54;1.13e-38)|all cancers(56;8.48e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)			TGAACGTGCTCCTGTCTAGGT	0.607													32	33					0	0	1	0	0	T	146076589	C	T	146076589	2	4	145	1	0	0	0	0	0	0	0	1	3742	854	30	2		2	COMMD5	8	146076589	Silent	SNP	C	TCGA-DU-A76R-01A-11D-A32B-08	1131203	146076589	287433	25	22327											
OR13C8	138802	broad.mit.edu	37	9	107332225	107332225	+	Silent	SNP	C	C	T			TCGA-DU-A76R-01A-11D-A32B-08	TCGA-DU-A76R-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd703fa-227d-40f8-962b-53c746b2c372	43476bb5-3d68-4d0c-9e1a-2937705a654b	g.chr9:107332225C>T	ENST00000335040.1	+	1	777	c.777C>T	c.(775-777)taC>taT	p.Y259Y		NM_001004483.1	NP_001004483.1	Q8NGS7	O13C8_HUMAN	olfactory receptor, family 13, subfamily C, member 8	259					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1)	25						TCTTCATGTACGCAAAGCCTG	0.453													9	40					0	0	1	0	0	T	107332225	C	T	107332225	2	4	145	1	0	0	0	0	0	0	0	1	10986	547	19	1		1	OR13C8	9	107332225	Silent	SNP	C	TCGA-DU-A76R-01A-11D-A32B-08		107332225	33881206	26	22328											
STAMBPL1	57559	broad.mit.edu	37	10	90673204	90673204	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A76R-01A-11D-A32B-08	TCGA-DU-A76R-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd703fa-227d-40f8-962b-53c746b2c372	43476bb5-3d68-4d0c-9e1a-2937705a654b	g.chr10:90673204G>A	ENST00000371927.3	+	6	1725	c.767G>A	c.(766-768)aGt>aAt	p.S256N	STAMBPL1_ENST00000371926.3_Missense_Mutation_p.S256N|STAMBPL1_ENST00000371924.1_Missense_Mutation_p.S256N|STAMBPL1_ENST00000371922.1_Missense_Mutation_p.S90N			Q96FJ0	STALP_HUMAN	STAM binding protein-like 1	256							metal ion binding|metallopeptidase activity|protein binding			breast(2)|endometrium(1)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|skin(1)	11		Colorectal(252;0.0381)		Colorectal(12;6.38e-05)|COAD - Colon adenocarcinoma(12;7.75e-05)		GCTACTCTAAGTGCTGTTCAG	0.448													21	27					0	0	1	0	0	A	90673204	G	A	90673204	3	1	145	1	0	0	0	0	1	0	0	0	15307	1029	36	2	785	2	STAMBPL1	10	90673204	Missense_Mutation	SNP	G	TCGA-DU-A76R-01A-11D-A32B-08		90673204	44861543	27	22329											
TACC2	10579	broad.mit.edu	37	10	123845220	123845220	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A76R-01A-11D-A32B-08	TCGA-DU-A76R-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd703fa-227d-40f8-962b-53c746b2c372	43476bb5-3d68-4d0c-9e1a-2937705a654b	g.chr10:123845220G>A	ENST00000369005.1	+	4	3545	c.3205G>A	c.(3205-3207)Gga>Aga	p.G1069R	TACC2_ENST00000515603.1_Missense_Mutation_p.G1069R|TACC2_ENST00000334433.3_Missense_Mutation_p.G1069R|TACC2_ENST00000515273.1_Missense_Mutation_p.G1069R|TACC2_ENST00000453444.2_Missense_Mutation_p.G1069R|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000358010.1_Intron	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	1069						microtubule organizing center|nucleus	nuclear hormone receptor binding	p.G1069R(1)		NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				CGCCAGCCCCGGAGTCACACC	0.642													4	42					0	0	1	0	0	A	123845220	G	A	123845220	3	1	145	1	0	0	0	0	1	0	0	0	15559	1117	39	1	3215	1	TACC2	10	123845220	Missense_Mutation	SNP	G	TCGA-DU-A76R-01A-11D-A32B-08	33172016	123845220	11689527	28	22330											
CHST15	51363	broad.mit.edu	37	10	125804102	125804102	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A76R-01A-11D-A32B-08	TCGA-DU-A76R-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd703fa-227d-40f8-962b-53c746b2c372	43476bb5-3d68-4d0c-9e1a-2937705a654b	g.chr10:125804102G>A	ENST00000346248.5	-	3	1522	c.880C>T	c.(880-882)Cgc>Tgc	p.R294C	CHST15_ENST00000435907.1_Missense_Mutation_p.R294C|CHST15_ENST00000421115.1_Missense_Mutation_p.R294C	NM_015892.4	NP_056976.2	Q7LFX5	CHSTF_HUMAN	carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15	294					hexose biosynthetic process	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity			endometrium(4)|kidney(1)|large_intestine(11)|lung(6)|ovary(3)|stomach(1)	26						TCACCAAAGCGCTTCCGGGTC	0.637													6	9					0	0	1	0	0	A	125804102	G	A	125804102	3	1	145	1	0	0	0	0	1	0	0	0	3425	1087	38	1	829	1	CHST15	10	125804102	Missense_Mutation	SNP	G	TCGA-DU-A76R-01A-11D-A32B-08	1958882	125804102	9730645	29	22331											
AHNAK	79026	broad.mit.edu	37	11	62298554	62298554	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A76R-01A-11D-A32B-08	TCGA-DU-A76R-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd703fa-227d-40f8-962b-53c746b2c372	43476bb5-3d68-4d0c-9e1a-2937705a654b	g.chr11:62298554G>A	ENST00000378024.4	-	5	3609	c.3335C>T	c.(3334-3336)gCa>gTa	p.A1112V	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	1112					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CACATCTGGTGCTTTAATATC	0.488													23	120					0	0	1	0	0	A	62298554	G	A	62298554	3	1	145	1	0	0	0	0	1	0	0	0	411	1319	46	2	14457	2	AHNAK	11	62298554	Missense_Mutation	SNP	G	TCGA-DU-A76R-01A-11D-A32B-08		62298554	72707962	30	22332											
TMEM45B	120224	broad.mit.edu	37	11	129722502	129722502	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-A76R-01A-11D-A32B-08	TCGA-DU-A76R-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd703fa-227d-40f8-962b-53c746b2c372	43476bb5-3d68-4d0c-9e1a-2937705a654b	g.chr11:129722502A>C	ENST00000281441.3	+	2	213	c.125A>C	c.(124-126)tAt>tCt	p.Y42S	TMEM45B_ENST00000524567.1_Missense_Mutation_p.Y42S	NM_138788.3	NP_620143.1	Q96B21	TM45B_HUMAN	transmembrane protein 45B	42						integral to membrane				endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|stomach(1)	12	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.012)|Lung(977;0.179)|LUSC - Lung squamous cell carcinoma(976;0.189)		CTACATTACTATCAGCGTCTC	0.498													5	57					0	0	1	0	0	C	129722502	A	C	129722502	3	2	145	1	0	0	0	0	1	0	0	0	16230	449	16	4	127	4	TMEM45B	11	129722502	Missense_Mutation	SNP	A	TCGA-DU-A76R-01A-11D-A32B-08	67423948	129722502	5284014	31	22333											
CLEC1B	51266	broad.mit.edu	37	12	10145811	10145811	+	Silent	SNP	G	G	A			TCGA-DU-A76R-01A-11D-A32B-08	TCGA-DU-A76R-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd703fa-227d-40f8-962b-53c746b2c372	43476bb5-3d68-4d0c-9e1a-2937705a654b	g.chr12:10145811G>A	ENST00000428126.2	-	7	791	c.522C>T	c.(520-522)ttC>ttT	p.F174F	CLEC1B_ENST00000348658.4_Silent_p.F174F|CLEC1B_ENST00000298527.6_Silent_p.F207F			Q9P126	CLC1B_HUMAN	C-type lectin domain family 1, member B	207	C-type lectin.				cell surface receptor linked signaling pathway|defense response	integral to plasma membrane	protein binding|sugar binding|transmembrane receptor activity			NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(12)|stomach(1)|urinary_tract(1)	19						TGTTCTCACAGAAGGTAGGGT	0.378													31	105					0	0	1	0	0	A	10145811	G	A	10145811	2	1	145	1	0	0	0	0	0	0	0	1	3529	933	33	2		2	CLEC1B	12	10145811	Silent	SNP	G	TCGA-DU-A76R-01A-11D-A32B-08		10145811	123706084	32	22334											
SOX5	6660	broad.mit.edu	37	12	23716299	23716299	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-A76R-01A-11D-A32B-08	TCGA-DU-A76R-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd703fa-227d-40f8-962b-53c746b2c372	43476bb5-3d68-4d0c-9e1a-2937705a654b	g.chr12:23716299G>C	ENST00000546136.1	-	10	1344	c.1342C>G	c.(1342-1344)Caa>Gaa	p.Q448E	SOX5_ENST00000309359.1_Missense_Mutation_p.Q448E|SOX5_ENST00000541536.1_Intron|SOX5_ENST00000396007.2_Missense_Mutation_p.Q75E|SOX5_ENST00000537393.1_Missense_Mutation_p.Q426E|SOX5_ENST00000451604.2_Missense_Mutation_p.Q461E|SOX5_ENST00000545921.1_Missense_Mutation_p.Q451E|SOX5_ENST00000381381.2_Intron			P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5	461					transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3)	57						CGAGCTTCTTGGATTGCCTTG	0.448													26	56					0	0	1	0	0	C	23716299	G	C	23716299	3	2	145	1	0	0	0	0	1	0	0	0	15008	1357	47	5	930	5	SOX5	12	23716299	Missense_Mutation	SNP	G	TCGA-DU-A76R-01A-11D-A32B-08	13570488	23716299	110135596	33	22335											
PRPF40B	25766	broad.mit.edu	37	12	50035727	50035727	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A76R-01A-11D-A32B-08	TCGA-DU-A76R-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd703fa-227d-40f8-962b-53c746b2c372	43476bb5-3d68-4d0c-9e1a-2937705a654b	g.chr12:50035727G>A	ENST00000261897.1	+	18	2250	c.1699G>A	c.(1699-1701)Gag>Aag	p.E567K	PRPF40B_ENST00000380281.1_Missense_Mutation_p.E580K|FMNL3_ENST00000335154.5_3'UTR|PRPF40B_ENST00000548825.2_Missense_Mutation_p.E602K			Q6NWY9	PR40B_HUMAN	PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae)	580					mRNA processing|RNA splicing	nuclear speck				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34						CACGGCCTTTGAGGACTTCGC	0.617													10	33					0	0	1	0	0	A	50035727	G	A	50035727	3	1	145	1	0	0	0	0	1	0	0	0	12624	1291	45	2	1808	2	PRPF40B	12	50035727	Missense_Mutation	SNP	G	TCGA-DU-A76R-01A-11D-A32B-08	26319428	50035727	83816168	34	22336											
OS9	10956	broad.mit.edu	37	12	58087892	58087892	+	Translation_Start_Site	SNP	G	G	A			TCGA-DU-A76R-01A-11D-A32B-08	TCGA-DU-A76R-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd703fa-227d-40f8-962b-53c746b2c372	43476bb5-3d68-4d0c-9e1a-2937705a654b	g.chr12:58087892G>A	ENST00000552285.1	+	0	155							Q13438	OS9_HUMAN	osteosarcoma amplified 9, endoplasmic reticulum lectin						ER-associated protein catabolic process|protein retention in ER lumen|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to endoplasmic reticulum stress	endoplasmic reticulum lumen|Hrd1p ubiquitin ligase complex	glycoprotein binding|protein binding|sugar binding			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	21	all_neural(12;0.00548)|Glioma(12;0.0126)|Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			TGTTGAGGCCGCTGCCTGGCT	0.532											OREG0021950	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	34					0	0	1	0	0	A	58087892	G	A	58087892	1	1	145	1	0	0	0	0	0	0	0	0	11319	1102	38	1		1	OS9	12	58087892	Translation_Start_Site	SNP	G	TCGA-DU-A76R-01A-11D-A32B-08	8052165	58087892	75764003	35	22337											
KTN1	3895	broad.mit.edu	37	14	56084854	56084854	+	Splice_Site	SNP	T	T	C			TCGA-DU-A76R-01A-11D-A32B-08	TCGA-DU-A76R-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd703fa-227d-40f8-962b-53c746b2c372	43476bb5-3d68-4d0c-9e1a-2937705a654b	g.chr14:56084854T>C	ENST00000416613.1	+	3	904		c.e3+2		KTN1_ENST00000395314.3_Splice_Site|KTN1_ENST00000413890.2_Splice_Site|KTN1_ENST00000438792.2_Splice_Site|KTN1_ENST00000395308.1_Splice_Site|KTN1_ENST00000395311.1_Splice_Site|KTN1_ENST00000395309.3_Splice_Site			Q86UP2	KTN1_HUMAN	kinectin 1 (kinesin receptor)						microtubule-based movement	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction		p.?(1)		breast(4)|central_nervous_system(1)|large_intestine(8)|lung(1)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	19						CTGACAAAGGTAATATATGGG	0.338			T	RET	papillary thryoid								14	35					0	0	1	0	0	C	56084854	T	C	56084854	5	2	145	1	0	0	0	0	0	0	1	0	8624	1652	57	3	844	3	KTN1	14	56084854	Splice_Site	SNP	T	TCGA-DU-A76R-01A-11D-A32B-08		56084854	51264686	36	22338											
SPTBN5	51332	broad.mit.edu	37	15	42153664	42153664	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A76R-01A-11D-A32B-08	TCGA-DU-A76R-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd703fa-227d-40f8-962b-53c746b2c372	43476bb5-3d68-4d0c-9e1a-2937705a654b	g.chr15:42153664G>A	ENST00000320955.6	-	46	7995	c.7768C>T	c.(7768-7770)Cgt>Tgt	p.R2590C		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	2590					actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		CAAAGCCAACGTTCCATCTTC	0.547													18	20					0	0	1	0	0	A	42153664	G	A	42153664	3	1	145	1	0	0	0	0	1	0	0	0	15178	1145	40	1	3348	1	SPTBN5	15	42153664	Missense_Mutation	SNP	G	TCGA-DU-A76R-01A-11D-A32B-08		42153664	60377728	37	22339											
TRPM7	54822	broad.mit.edu	37	15	50905958	50905958	+	Silent	SNP	C	C	T			TCGA-DU-A76R-01A-11D-A32B-08	TCGA-DU-A76R-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd703fa-227d-40f8-962b-53c746b2c372	43476bb5-3d68-4d0c-9e1a-2937705a654b	g.chr15:50905958C>T	ENST00000313478.7	-	15	1997	c.1716G>A	c.(1714-1716)aaG>aaA	p.K572K	TRPM7_ENST00000560955.1_Silent_p.K572K	NM_017672.4	NP_060142.3	Q96QT4	TRPM7_HUMAN	transient receptor potential cation channel, subfamily M, member 7	572					cell death	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3)	52				all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)		TCATTTTTTCCTTTTTATCTG	0.368													4	25					0	0	1	0	0	T	50905958	C	T	50905958	2	4	145	1	0	0	0	0	0	0	0	1	16652	680	24	2		2	TRPM7	15	50905958	Silent	SNP	C	TCGA-DU-A76R-01A-11D-A32B-08	8752294	50905958	51625434	38	22340											
WDR72	256764	broad.mit.edu	37	15	53908182	53908182	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A76R-01A-11D-A32B-08	TCGA-DU-A76R-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd703fa-227d-40f8-962b-53c746b2c372	43476bb5-3d68-4d0c-9e1a-2937705a654b	g.chr15:53908182C>T	ENST00000396328.1	-	15	2460	c.2221G>A	c.(2221-2223)Gca>Aca	p.A741T	WDR72_ENST00000557913.1_Missense_Mutation_p.A738T|WDR72_ENST00000360509.5_Missense_Mutation_p.A741T|WDR72_ENST00000559418.1_Missense_Mutation_p.A751T	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	741										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		TTGGCTAGTGCCTCTGCTGAA	0.443													9	35					0	0	1	0	0	T	53908182	C	T	53908182	3	4	145	1	0	0	0	0	1	0	0	0	17382	739	26	2	1111	2	WDR72	15	53908182	Missense_Mutation	SNP	C	TCGA-DU-A76R-01A-11D-A32B-08	3002224	53908182	48623210	39	22341											
RASGRF1	5923	broad.mit.edu	37	15	79292184	79292184	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A76R-01A-11D-A32B-08	TCGA-DU-A76R-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd703fa-227d-40f8-962b-53c746b2c372	43476bb5-3d68-4d0c-9e1a-2937705a654b	g.chr15:79292184C>T	ENST00000419573.3	-	18	2969	c.2695G>A	c.(2695-2697)Gcc>Acc	p.A899T	RASGRF1_ENST00000558480.2_Missense_Mutation_p.A883T|RASGRF1_ENST00000394745.3_Missense_Mutation_p.A115T|RASGRF1_ENST00000560334.1_5'UTR	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	901					activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						GCCGACAAGGCACTGCGGTTA	0.572													28	34					0	0	1	0	0	T	79292184	C	T	79292184	3	4	145	1	0	0	0	0	1	0	0	0	13124	710	25	2	1170	2	RASGRF1	15	79292184	Missense_Mutation	SNP	C	TCGA-DU-A76R-01A-11D-A32B-08	25384002	79292184	23239208	40	22342											
IFT140	9742	broad.mit.edu	37	16	1614053	1614053	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A76R-01A-11D-A32B-08	TCGA-DU-A76R-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd703fa-227d-40f8-962b-53c746b2c372	43476bb5-3d68-4d0c-9e1a-2937705a654b	g.chr16:1614053C>T	ENST00000426508.2	-	17	2375	c.2012G>A	c.(2011-2013)cGc>cAc	p.R671H	IFT140_ENST00000439987.2_5'UTR	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN	intraflagellar transport 140 homolog (Chlamydomonas)	671										breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				AGGCTGGGAGCGCGGCGTCTC	0.582													19	49					0	0	1	0	0	T	1614053	C	T	1614053	3	4	145	1	0	0	0	0	1	0	0	0	7600	768	27	1	2436	1	IFT140	16	1614053	Missense_Mutation	SNP	C	TCGA-DU-A76R-01A-11D-A32B-08		1614053	88740700	41	22343											
TRIM72	493829	broad.mit.edu	37	16	31230715	31230715	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A76R-01A-11D-A32B-08	TCGA-DU-A76R-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd703fa-227d-40f8-962b-53c746b2c372	43476bb5-3d68-4d0c-9e1a-2937705a654b	g.chr16:31230715C>T	ENST00000322122.3	+	4	876	c.592C>T	c.(592-594)Cgg>Tgg	p.R198W		NM_001008274.3	NP_001008275.2	Q6ZMU5	TRI72_HUMAN	tripartite motif containing 72	198					exocytosis|muscle organ development|muscle system process|plasma membrane repair|protein homooligomerization	cytoplasmic vesicle membrane|sarcolemma	phosphatidylserine binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(2)|lung(9)|skin(1)	15						AGAGCGTGTACGGGGTGAGGC	0.682													7	37					0	0	1	0	0	T	31230715	C	T	31230715	3	4	145	1	0	0	0	0	1	0	0	0	16606	527	19	1	602	1	TRIM72	16	31230715	Missense_Mutation	SNP	C	TCGA-DU-A76R-01A-11D-A32B-08	29616662	31230715	59124038	42	22344											
KDM6B	23135	broad.mit.edu	37	17	7750173	7750173	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-A76R-01A-11D-A32B-08	TCGA-DU-A76R-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd703fa-227d-40f8-962b-53c746b2c372	43476bb5-3d68-4d0c-9e1a-2937705a654b	g.chr17:7750173C>G	ENST00000254846.5	+	9	1137	c.748C>G	c.(748-750)Cca>Gca	p.P250A	KDM6B_ENST00000448097.2_Missense_Mutation_p.P250A	NM_001080424.1	NP_001073893.1	O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	250	Pro-rich.				inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						gcctccaccaccattaccacc	0.622													6	8					0	0	1	0	0	G	7750173	C	G	7750173	3	3	145	1	0	0	0	0	1	0	0	0	8181	507	18	5	770	5	KDM6B	17	7750173	Missense_Mutation	SNP	C	TCGA-DU-A76R-01A-11D-A32B-08		7750173	73445037	43	22345											
MYH2	4620	broad.mit.edu	37	17	10432210	10432210	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A76R-01A-11D-A32B-08	TCGA-DU-A76R-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd703fa-227d-40f8-962b-53c746b2c372	43476bb5-3d68-4d0c-9e1a-2937705a654b	g.chr17:10432210G>A	ENST00000245503.5	-	27	3925	c.3541C>T	c.(3541-3543)Cgc>Tgc	p.R1181C	MYH2_ENST00000532183.2_Intron|RP11-799N11.1_ENST00000581304.1_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.R1181C|RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1181					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						AGGTCCCTGCGCATTTTCTGG	0.592													26	125					0	0	1	0	0	A	10432210	G	A	10432210	3	1	145	1	0	0	0	0	1	0	0	0	10083	1087	38	1	2340	1	MYH2	17	10432210	Missense_Mutation	SNP	G	TCGA-DU-A76R-01A-11D-A32B-08	2682037	10432210	70763000	44	22346											
CCL16	6360	broad.mit.edu	37	17	34304693	34304693	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A76R-01A-11D-A32B-08	TCGA-DU-A76R-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd703fa-227d-40f8-962b-53c746b2c372	43476bb5-3d68-4d0c-9e1a-2937705a654b	g.chr17:34304693G>A	ENST00000293275.3	-	3	347	c.272C>T	c.(271-273)cCc>cTc	p.P91L		NM_004590.2	NP_004581.1	O15467	CCL16_HUMAN	chemokine (C-C motif) ligand 16	91					cell-cell signaling|immune response|inflammatory response	extracellular space	chemoattractant activity|chemokine activity			endometrium(1)|lung(2)	3		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		AGGTAGGTTGGGATCCTTGAT	0.507													30	87					0	0	1	0	0	A	34304693	G	A	34304693	3	1	145	1	0	0	0	0	1	0	0	0	2907	1232	43	2	94	2	CCL16	17	34304693	Missense_Mutation	SNP	G	TCGA-DU-A76R-01A-11D-A32B-08	23872483	34304693	46890517	45	22347											
WFIKKN2	124857	broad.mit.edu	37	17	48918243	48918243	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A76R-01A-11D-A32B-08	TCGA-DU-A76R-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd703fa-227d-40f8-962b-53c746b2c372	43476bb5-3d68-4d0c-9e1a-2937705a654b	g.chr17:48918243G>A	ENST00000311378.4	+	2	2122	c.1594G>A	c.(1594-1596)Gag>Aag	p.E532K	WFIKKN2_ENST00000426127.1_Missense_Mutation_p.E439K|RP11-506D12.5_ENST00000572491.2_RNA	NM_175575.5	NP_783165.1	Q8TEU8	WFKN2_HUMAN	WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2	532	NTR.					extracellular region	metalloendopeptidase inhibitor activity|protein binding|serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(13)|ovary(4)|skin(1)	29			BRCA - Breast invasive adenocarcinoma(22;1.09e-08)			CATCATGGGGGAGGTGGACGG	0.642													7	19					0	0	1	0	0	A	48918243	G	A	48918243	3	1	145	1	0	0	0	0	1	0	0	0	17419	1175	41	2	1600	2	WFIKKN2	17	48918243	Missense_Mutation	SNP	G	TCGA-DU-A76R-01A-11D-A32B-08	14613550	48918243	32276967	46	22348											
CLTC	1213	broad.mit.edu	37	17	57744174	57744174	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-A76R-01A-11D-A32B-08	TCGA-DU-A76R-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd703fa-227d-40f8-962b-53c746b2c372	43476bb5-3d68-4d0c-9e1a-2937705a654b	g.chr17:57744174T>G	ENST00000269122.3	+	13	2238	c.1964T>G	c.(1963-1965)tTt>tGt	p.F655C	CLTC_ENST00000393043.1_Missense_Mutation_p.F655C|CLTC_ENST00000579456.1_Intron	NM_004859.3	NP_004850.1	Q00610	CLH1_HUMAN	clathrin, heavy chain (Hc)	655	Heavy chain arm.|Proximal segment.				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|mitosis|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport|receptor internalization|transferrin transport	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol|melanosome|spindle	protein binding|structural molecule activity		CLTC/ALK(44)|CLTC/TFE3(2)	breast(2)|large_intestine(6)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					GTCAACTACTTTGGTTCCTTA	0.363			T	"ALK, TFE3"	"ALCL, renal "								19	31					0	0	1	0	0	G	57744174	T	G	57744174	3	3	145	1	0	0	0	0	1	0	0	0	3589	1841	64	5	2014	5	CLTC	17	57744174	Missense_Mutation	SNP	T	TCGA-DU-A76R-01A-11D-A32B-08	8825931	57744174	23451036	47	22349											
CCDC68	80323	broad.mit.edu	37	18	52602091	52602091	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-A76R-01A-11D-A32B-08	TCGA-DU-A76R-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd703fa-227d-40f8-962b-53c746b2c372	43476bb5-3d68-4d0c-9e1a-2937705a654b	g.chr18:52602091T>C	ENST00000591504.1	-	7	834	c.560A>G	c.(559-561)cAa>cGa	p.Q187R	CCDC68_ENST00000337363.4_Missense_Mutation_p.Q187R|CCDC68_ENST00000432185.1_Missense_Mutation_p.Q187R	NM_025214.2	NP_079490.1	Q9H2F9	CCD68_HUMAN	coiled-coil domain containing 68	187										breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(3)|stomach(1)	14				Colorectal(16;0.0256)|READ - Rectum adenocarcinoma(59;0.21)		TTCTGTAATTTGACTGTGTTT	0.353													10	62					0	0	1	0	0	C	52602091	T	C	52602091	3	2	145	1	0	0	0	0	1	0	0	0	2860	1812	63	3	471	3	CCDC68	18	52602091	Missense_Mutation	SNP	T	TCGA-DU-A76R-01A-11D-A32B-08		52602091	25475157	48	22350											
ZNF563	147837	broad.mit.edu	37	19	12430201	12430201	+	Missense_Mutation	SNP	C	C	T	rs113773973	byFrequency	TCGA-DU-A76R-01A-11D-A32B-08	TCGA-DU-A76R-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd703fa-227d-40f8-962b-53c746b2c372	43476bb5-3d68-4d0c-9e1a-2937705a654b	g.chr19:12430201C>T	ENST00000293725.5	-	4	843	c.638G>A	c.(637-639)cGt>cAt	p.R213H	ZNF563_ENST00000595977.1_Intron	NM_145276.2	NP_660319.1	Q8TA94	ZN563_HUMAN	zinc finger protein 563	213					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						TTCATGCATACGTAATAAACT	0.393													55	77					0	0	1	0	0	T	12430201	C	T	12430201	3	4	145	1	0	0	0	0	1	0	0	0	18051	536	19	1	796	1	ZNF563	19	12430201	Missense_Mutation	SNP	C	TCGA-DU-A76R-01A-11D-A32B-08		12430201	46698782	49	22351											
ZNF574	64763	broad.mit.edu	37	19	42584408	42584408	+	Silent	SNP	C	C	G			TCGA-DU-A76R-01A-11D-A32B-08	TCGA-DU-A76R-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd703fa-227d-40f8-962b-53c746b2c372	43476bb5-3d68-4d0c-9e1a-2937705a654b	g.chr19:42584408C>G	ENST00000600245.1	+	2	2305	c.1650C>G	c.(1648-1650)ccC>ccG	p.P550P	ZNF574_ENST00000222339.7_Silent_p.P640P|ZNF574_ENST00000359044.4_Silent_p.P550P			Q6ZN55	ZN574_HUMAN	zinc finger protein 574	550					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20		Prostate(69;0.059)				GAGAGCGGCCCTACCGGTGTG	0.647													51	25					0	0	1	0	0	G	42584408	C	G	42584408	2	3	145	1	0	0	0	0	0	0	0	1	18063	668	24	4		4	ZNF574	19	42584408	Silent	SNP	C	TCGA-DU-A76R-01A-11D-A32B-08	30154207	42584408	16544575	50	22352											
LRRN4	164312	broad.mit.edu	37	20	6033401	6033401	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DU-A76R-01A-11D-A32B-08	TCGA-DU-A76R-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd703fa-227d-40f8-962b-53c746b2c372	43476bb5-3d68-4d0c-9e1a-2937705a654b	g.chr20:6033401delG	ENST00000378858.4	-	2	269	c.45delC	c.(43-45)cccfs	p.P15fs		NM_152611.4	NP_689824.2	Q8WUT4	LRRN4_HUMAN	leucine rich repeat neuronal 4	15						integral to membrane				breast(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	27						CTGCCCAGCTGGGGCGCAGCA	0.682													2	4	---	---	---	---						-	6033401	G	-	6033401	7	5	145	1	0	1	0	1	0	0	0	0	9082	1335	47	0	2193	0	LRRN4	20	6033401	Frame_Shift_Del	DEL	G	TCGA-DU-A76R-01A-11D-A32B-08		6033401	56992119	51	22353											
PLCB1	23236	broad.mit.edu	37	20	8678347	8678347	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-A76R-01A-11D-A32B-08	TCGA-DU-A76R-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd703fa-227d-40f8-962b-53c746b2c372	43476bb5-3d68-4d0c-9e1a-2937705a654b	g.chr20:8678347C>A	ENST00000378641.3	+	11	1559	c.1084C>A	c.(1084-1086)Ctg>Atg	p.L362M	PLCB1_ENST00000338037.6_Missense_Mutation_p.L362M|PLCB1_ENST00000378637.2_Missense_Mutation_p.L362M	NM_182734.1	NP_877398.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	362	PI-PLC X-box.				activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						CTGTGTGGAGCTGGACTGCTG	0.483													4	98					0.150653	0.150653	1	1	0	A	8678347	C	A	8678347	3	1	145	1	0	0	0	0	1	0	0	0	12075	796	28	4	1126	4	PLCB1	20	8678347	Missense_Mutation	SNP	C	TCGA-DU-A76R-01A-11D-A32B-08	2644946	8678347	54347173	52	22354											
GPR174	84636	broad.mit.edu	37	X	78427140	78427140	+	Silent	SNP	G	G	A			TCGA-DU-A76R-01A-11D-A32B-08	TCGA-DU-A76R-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd703fa-227d-40f8-962b-53c746b2c372	43476bb5-3d68-4d0c-9e1a-2937705a654b	g.chrX:78427140G>A	ENST00000276077.1	+	1	672	c.636G>A	c.(634-636)ctG>ctA	p.L212L		NM_032553.1	NP_115942.1	Q9BXC1	GP174_HUMAN	G protein-coupled receptor 174	212						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	38						TTTTATCACTGCAAGATAAAT	0.438										HNSCC(63;0.18)			19	43					0	0	1	0	0	A	78427140	G	A	78427140	2	1	145	1	0	0	0	0	0	0	0	1	6712	1306	46	2		2	GPR174	23	78427140	Silent	SNP	G	TCGA-DU-A76R-01A-11D-A32B-08		78427140	76843420	53	22355											
HDX	139324	broad.mit.edu	37	X	83730327	83730331	+	Frame_Shift_Del	DEL	TTTGA	TTTGA	-			TCGA-DU-A76R-01A-11D-A32B-08	TCGA-DU-A76R-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd703fa-227d-40f8-962b-53c746b2c372	43476bb5-3d68-4d0c-9e1a-2937705a654b	g.chrX:83730327_83730331delTTTGA	ENST00000297977.5	-	2	186_190	c.75_79delTCAAA	c.(73-81)aatcaaagtfs	p.NQS25fs	HDX_ENST00000506585.2_Intron|HDX_ENST00000373177.2_Frame_Shift_Del_p.NQS25fs	NM_001177479.1|NM_144657.4	NP_001170950.1|NP_653258.2	Q7Z353	HDX_HUMAN	highly divergent homeobox	25						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(12)|liver(1)|lung(19)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						CAATTTTTACTTTGATTTGTCATTC	0.327													8	28	---	---	---	---						-	83730331	TTTGA	-	83730327	7	5	145	1	0	1	0	1	0	0	0	0	7067	1609	56	0	2029	0	HDX	23	83730327	Frame_Shift_Del	DEL	TTTGA	TCGA-DU-A76R-01A-11D-A32B-08	5303187	83730327	71540233	54	22356											
CELSR2	1952	broad.mit.edu	37	1	109792762	109792762	+	Silent	SNP	T	T	C			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr1:109792762T>C	ENST00000271332.3	+	1	122	c.61T>C	c.(61-63)Ttg>Ctg	p.L21L		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	21					dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		gctgctgctgttgctgctgct	0.746													3	25					0	0	1	0	0	C	109792762	T	C	109792762	2	2	146	1	0	0	0	0	0	0	0	1	3244	1722	60	3		3	CELSR2	1	109792762	Silent	SNP	T	TCGA-DU-A7T6-01A-11D-A33T-08		109792762	139457859	1	22357	111	2									
CELSR2	1952	broad.mit.edu	37	1	109792765	109792765	+	Silent	SNP	C	C	T			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr1:109792765C>T	ENST00000271332.3	+	1	125	c.64C>T	c.(64-66)Ctg>Ttg	p.L22L		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	22					dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		gctgctgttgctgctgctgct	0.746													3	26					0	0	1	0	0	T	109792765	C	T	109792765	2	4	146	1	0	0	0	0	0	0	0	1	3244	796	28	2		2	CELSR2	1	109792765	Silent	SNP	C	TCGA-DU-A7T6-01A-11D-A33T-08	3	109792765	139457856	2	22358	111	2									
TRIM33	51592	broad.mit.edu	37	1	114964058	114964058	+	Splice_Site	SNP	C	C	A			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr1:114964058C>A	ENST00000358465.2	-	11	2144	c.2061G>T	c.(2059-2061)caG>caT	p.Q687H	TRIM33_ENST00000450349.2_Splice_Site_p.Q295H|TRIM33_ENST00000369543.2_Splice_Site_p.Q687H	NM_015906.3	NP_056990.3	Q9UPN9	TRI33_HUMAN	tripartite motif containing 33	687					negative regulation of BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	nucleus	co-SMAD binding|DNA binding|ligase activity|R-SMAD binding|zinc ion binding			breast(2)|central_nervous_system(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	48	all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184)	all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		AAATACAAACCTGTATGGGTG	0.378			T	RET	papillary thyroid								65	60					1.33661e-31	1.41734e-31	1	1	0	A	114964058	C	A	114964058	5	1	146	1	0	0	0	0	0	0	1	0	16568	695	24	4	1362	4	TRIM33	1	114964058	Splice_Site	SNP	C	TCGA-DU-A7T6-01A-11D-A33T-08	5171293	114964058	134286563	3	22359											
ZNF687	57592	broad.mit.edu	37	1	151262420	151262420	+	Silent	SNP	G	G	C			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr1:151262420G>C	ENST00000368879.2	+	6	2999	c.2901G>C	c.(2899-2901)ctG>ctC	p.L967L		NM_020832.1	NP_065883.1	Q8N1G0	ZN687_HUMAN	zinc finger protein 687	967					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	32	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			CCTGTGGCCTGTGTCACTCCT	0.662													7	12					0	0	1	0	0	C	151262420	G	C	151262420	2	2	146	1	0	0	0	0	0	0	0	1	18148	1364	48	5		5	ZNF687	1	151262420	Silent	SNP	G	TCGA-DU-A7T6-01A-11D-A33T-08	36298362	151262420	97988201	4	22360											
LEFTY2	7044	broad.mit.edu	37	1	226127198	226127198	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr1:226127198C>G	ENST00000366820.5	-	3	948	c.600G>C	c.(598-600)caG>caC	p.Q200H	LEFTY2_ENST00000474493.1_5'UTR|LEFTY2_ENST00000420304.2_Missense_Mutation_p.Q166H	NM_003240.3	NP_003231.2	O00292	LFTY2_HUMAN	left-right determination factor 2	200					cell growth|multicellular organismal development|platelet activation|platelet degranulation|transforming growth factor beta receptor signaling pathway	extracellular space|platelet alpha granule lumen	cytokine activity|growth factor activity|transforming growth factor beta receptor binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	16	Breast(184;0.197)					GCACCGACACCTGTAGCAGCA	0.716													7	33					0	0	1	0	0	G	226127198	C	G	226127198	3	3	146	1	0	0	0	0	1	0	0	0	8755	680	24	4	508	4	LEFTY2	1	226127198	Missense_Mutation	SNP	C	TCGA-DU-A7T6-01A-11D-A33T-08	74864778	226127198	23123423	5	22361											
WNT9A	7483	broad.mit.edu	37	1	228113078	228113078	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr1:228113078C>G	ENST00000272164.5	-	2	248	c.238G>C	c.(238-240)Gag>Cag	p.E80Q		NM_003395.2	NP_003386.1	O14904	WNT9A_HUMAN	wingless-type MMTV integration site family, member 9A	80					anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|cornea development in camera-type eye|embryonic arm morphogenesis|embryonic skeletal joint morphogenesis|endoderm development|iris morphogenesis|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|neuron differentiation|positive regulation of smoothened signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|G-protein-coupled receptor binding|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19		Prostate(94;0.0405)				ACCAGCGTCTCTGCCACGCCC	0.701													8	24					0	0	1	0	0	G	228113078	C	G	228113078	3	3	146	1	0	0	0	0	1	0	0	0	17458	922	32	4	871	4	WNT9A	1	228113078	Missense_Mutation	SNP	C	TCGA-DU-A7T6-01A-11D-A33T-08	1985880	228113078	21137543	6	22362											
ZP4	57829	broad.mit.edu	37	1	238049138	238049138	+	Silent	SNP	G	G	A			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr1:238049138G>A	ENST00000366570.4	-	7	1046	c.888C>T	c.(886-888)atC>atT	p.I296I	RP11-193H5.1_ENST00000450451.1_RNA	NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4	296	ZP.				acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity	p.I296I(1)		breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			CCTGGACATTGATTGGGAGAG	0.512													14	83					0	0	1	0	0	A	238049138	G	A	238049138	2	1	146	1	0	0	0	0	0	0	0	1	18260	1280	45	2		2	ZP4	1	238049138	Silent	SNP	G	TCGA-DU-A7T6-01A-11D-A33T-08	9936060	238049138	11201483	7	22363											
MBOAT2	129642	broad.mit.edu	37	2	8998901	8998901	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr2:8998901T>A	ENST00000305997.3	-	13	1669	c.1471A>T	c.(1471-1473)Aat>Tat	p.N491Y		NM_138799.2	NP_620154.2	Q6ZWT7	MBOA2_HUMAN	membrane bound O-acyltransferase domain containing 2	491					phospholipid biosynthetic process	integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity		MBOAT2/PRKCE(2)	endometrium(2)|kidney(1)|large_intestine(9)|lung(2)|skin(1)	15	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					CCCAAAGAATTTTCTCCTTCA	0.348													59	85					0	0	1	0	0	A	8998901	T	A	8998901	3	1	146	1	0	0	0	0	1	0	0	0	9407	1841	64	5	95	5	MBOAT2	2	8998901	Missense_Mutation	SNP	T	TCGA-DU-A7T6-01A-11D-A33T-08		8998901	234200472	8	22364											
TAF1B	9014	broad.mit.edu	37	2	10008510	10008510	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr2:10008510G>A	ENST00000263663.5	+	6	693	c.505G>A	c.(505-507)Gac>Aac	p.D169N	TAF1B_ENST00000396242.3_5'UTR|TAF1B_ENST00000402170.1_3'UTR	NM_005680.2	NP_005671	Q53T94	TAF1B_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, B, 63kDa	169					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	14	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					GTCTCAGTCTGACATCCACAC	0.438													53	67					0	0	1	0	0	A	10008510	G	A	10008510	3	1	146	1	0	0	0	0	1	0	0	0	15577	1290	45	2	527	2	TAF1B	2	10008510	Missense_Mutation	SNP	G	TCGA-DU-A7T6-01A-11D-A33T-08	1009609	10008510	233190863	9	22365											
GDF7	151449	broad.mit.edu	37	2	20870684	20870684	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr2:20870684C>G	ENST00000272224.3	+	2	1428	c.852C>G	c.(850-852)atC>atG	p.I284M		NM_182828.2	NP_878248.2	Q7Z4P5	GDF7_HUMAN	growth differentiation factor 7	284					activin receptor signaling pathway|BMP signaling pathway|growth|pathway-restricted SMAD protein phosphorylation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			breast(1)|cervix(1)|endometrium(2)|lung(1)|prostate(1)|skin(1)	7	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCCGGGAGATCCGCGCCCAGG	0.731													6	9					0	0	1	0	0	G	20870684	C	G	20870684	3	3	146	1	0	0	0	0	1	0	0	0	6360	845	30	5	858	5	GDF7	2	20870684	Missense_Mutation	SNP	C	TCGA-DU-A7T6-01A-11D-A33T-08	10862174	20870684	222328689	10	22366											
SLC30A3	7781	broad.mit.edu	37	2	27480105	27480105	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr2:27480105C>T	ENST00000233535.4	-	5	1046	c.694G>A	c.(694-696)Gtc>Atc	p.V232I	SLC30A3_ENST00000447008.2_Missense_Mutation_p.V227I	NM_003459.4	NP_003450.2	Q99726	ZNT3_HUMAN	solute carrier family 30 (zinc transporter), member 3	232					regulation of sequestering of zinc ion	cell junction|integral to plasma membrane|late endosome|membrane fraction|synaptic vesicle membrane	zinc transporting ATPase activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|pancreas(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCCGCCCGGACGCTGGTGTTC	0.647													20	36					0	0	1	0	0	T	27480105	C	T	27480105	3	4	146	1	0	0	0	0	1	0	0	0	14611	536	19	1	488	1	SLC30A3	2	27480105	Missense_Mutation	SNP	C	TCGA-DU-A7T6-01A-11D-A33T-08	6609421	27480105	215719268	11	22367											
RNF103	7844	broad.mit.edu	37	2	86831619	86831619	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr2:86831619G>A	ENST00000237455.4	-	4	2373	c.1405C>T	c.(1405-1407)Ccg>Tcg	p.P469S	CHMP3_ENST00000439940.2_Intron|RNF103-CHMP3_ENST00000604011.1_Intron|AC015971.2_ENST00000439077.1_RNA|AC015971.2_ENST00000426549.1_RNA|AC015971.2_ENST00000597638.1_RNA|AC015971.2_ENST00000424788.1_RNA	NM_001198951.1|NM_005667.3	NP_001185880.1|NP_005658.1	O00237	RN103_HUMAN	ring finger protein 103	469					central nervous system development|ER-associated protein catabolic process	endoplasmic reticulum membrane|integral to membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(7)|skin(2)	25						GAAGCAATCGGGTGGAAGAGG	0.458													23	105					0	0	1	0	0	A	86831619	G	A	86831619	3	1	146	1	0	0	0	0	1	0	0	0	13475	1232	43	2	656	2	RNF103	2	86831619	Missense_Mutation	SNP	G	TCGA-DU-A7T6-01A-11D-A33T-08	59351514	86831619	156367754	12	22368											
IL1RL1	9173	broad.mit.edu	37	2	102956584	102956584	+	Missense_Mutation	SNP	C	C	T	rs141061248		TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr2:102956584C>T	ENST00000311734.2	+	4	638	c.299C>T	c.(298-300)gCg>gTg	p.A100V	IL1RL1_ENST00000393393.3_Missense_Mutation_p.A100V|IL1RL1_ENST00000473175.1_3'UTR|IL1RL1_ENST00000233954.1_Missense_Mutation_p.A100V|IL1RL1_ENST00000409584.1_Missense_Mutation_p.A100V|IL1RL1_ENST00000404917.2_5'UTR	NM_001282408.1	NP_001269337.1	Q01638	ILRL1_HUMAN	interleukin 1 receptor-like 1	100	Ig-like C2-type 1.				innate immune response	integral to membrane	interleukin-1 receptor activity|receptor signaling protein activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1)	16						ACTGGATATGCGAATGTCACC	0.299													23	51					0	0	1	0	0	T	102956584	C	T	102956584	3	4	146	1	0	0	0	0	1	0	0	0	7707	768	27	1	309	1	IL1RL1	2	102956584	Missense_Mutation	SNP	C	TCGA-DU-A7T6-01A-11D-A33T-08	16124965	102956584	140242789	13	22369											
SLC35F5	80255	broad.mit.edu	37	2	114508047	114508047	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr2:114508047C>T	ENST00000245680.2	-	4	785	c.372G>A	c.(370-372)tgG>tgA	p.W124*	SLC35F5_ENST00000409342.1_Nonsense_Mutation_p.W118*	NM_025181.2	NP_079457.2	Q8WV83	S35F5_HUMAN	solute carrier family 35, member F5	124					transport	integral to membrane				endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|ovary(2)|prostate(3)|skin(1)	20						ACTGTTGTCTCCATGGCTTCC	0.368													50	67					0	0	1	0	0	T	114508047	C	T	114508047	4	4	146	1	0	0	0	0	0	1	0	0	14647	856	30	2	1247	2	SLC35F5	2	114508047	Nonsense_Mutation	SNP	C	TCGA-DU-A7T6-01A-11D-A33T-08	11551463	114508047	128691326	14	22370											
TBR1	10716	broad.mit.edu	37	2	162279930	162279930	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr2:162279930C>G	ENST00000389554.3	+	6	1558	c.1241C>G	c.(1240-1242)tCg>tGg	p.S414W	AC009487.4_ENST00000437683.1_RNA|TBR1_ENST00000489530.1_3'UTR|TBR1_ENST00000410035.1_Missense_Mutation_p.S127W	NM_006593.2	NP_006584.1	Q16650	TBR1_HUMAN	T-box, brain, 1	414						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(3)	30						CCCAACGACTCGCCGCGCTCG	0.687													7	68					0	0	1	0	0	G	162279930	C	G	162279930	3	3	146	1	0	0	0	0	1	0	0	0	15707	893	31	5	1263	5	TBR1	2	162279930	Missense_Mutation	SNP	C	TCGA-DU-A7T6-01A-11D-A33T-08	47771883	162279930	80919443	15	22371											
TTN	7273	broad.mit.edu	37	2	179453777	179453777	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr2:179453777C>T	ENST00000589042.1	-	304	62899	c.62675G>A	c.(62674-62676)gGt>gAt	p.G20892D	TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G11952D|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G11827D|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G18324D|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G12019D|TTN_ENST00000591111.1_Missense_Mutation_p.G19251D|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592689.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	19251	Fibronectin type-III 51.		T -> N.				ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCACAGCCACCATCATCTTC	0.403													11	53					0	0	1	0	0	T	179453777	C	T	179453777	3	4	146	1	0	0	0	0	1	0	0	0	16797	507	18	2	45540	2	TTN	2	179453777	Missense_Mutation	SNP	C	TCGA-DU-A7T6-01A-11D-A33T-08	17173847	179453777	63745596	16	22372											
NOP58	51602	broad.mit.edu	37	2	203162609	203162610	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr2:203162609_203162610delAG	ENST00000264279.5	+	12	1474_1475	c.1248_1249delAG	c.(1246-1251)acagaafs	p.E417fs		NM_015934.3	NP_057018.1	Q9Y2X3	NOP58_HUMAN	NOP58 ribonucleoprotein	417					cell growth|rRNA processing|snRNP protein import into nucleus	box C/D snoRNP complex|Cajal body|cytoplasm|pre-snoRNP complex	protein binding|snoRNA binding			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(4)|prostate(2)	16						TAGCAAAAACAGAAAAATATGA	0.257													10	93	---	---	---	---						-	203162610	AG	-	203162609	7	5	146	1	0	1	0	1	0	0	0	0	10587	175	7	0	1294	0	NOP58	2	203162609	Frame_Shift_Del	DEL	AG	TCGA-DU-A7T6-01A-11D-A33T-08	23708832	203162609	40036764	17	22373											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								47	72					0	0	1	0	0	T	209113112	C	T	209113112	3	4	146	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-DU-A7T6-01A-11D-A33T-08	5950503	209113112	34086261	18	22374											
TRPM8	79054	broad.mit.edu	37	2	234869448	234869448	+	Missense_Mutation	SNP	C	C	T	rs143538093		TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr2:234869448C>T	ENST00000324695.4	+	12	1431	c.1391C>T	c.(1390-1392)aCg>aTg	p.T464M	TRPM8_ENST00000433712.2_Missense_Mutation_p.T152M	NM_024080.4	NP_076985.4	Q7Z2W7	TRPM8_HUMAN	transient receptor potential cation channel, subfamily M, member 8	464						integral to membrane				breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	GTCATGTTTACGGCTCTCATA	0.423													4	134					0	0	1	0	0	T	234869448	C	T	234869448	3	4	146	1	0	0	0	0	1	0	0	0	16653	536	19	1	1433	1	TRPM8	2	234869448	Missense_Mutation	SNP	C	TCGA-DU-A7T6-01A-11D-A33T-08	25756336	234869448	8329925	19	22375											
ESPNL	339768	broad.mit.edu	37	2	239039021	239039021	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr2:239039021C>G	ENST00000343063.3	+	9	1929	c.1666C>G	c.(1666-1668)Ccc>Gcc	p.P556A	ESPNL_ENST00000477241.1_3'UTR|ESPNL_ENST00000409506.1_Missense_Mutation_p.P188A|ESPNL_ENST00000409169.1_Missense_Mutation_p.P512A	NM_194312.2	NP_919288.2	Q6ZVH7	ESPNL_HUMAN	espin-like	556										endometrium(1)|lung(8)|pancreas(2)|skin(2)	13		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		CCACTTCCTGCCCCGGGCGCC	0.701													9	11					0	0	1	0	0	G	239039021	C	G	239039021	3	3	146	1	0	0	0	0	1	0	0	0	5283	739	26	5	1700	5	ESPNL	2	239039021	Missense_Mutation	SNP	C	TCGA-DU-A7T6-01A-11D-A33T-08	4169573	239039021	4160352	20	22376											
TDGF1	6997	broad.mit.edu	37	3	46620761	46620761	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr3:46620761A>G	ENST00000296145.5	+	3	861	c.128A>G	c.(127-129)tAc>tGc	p.Y43C	LRRC2_ENST00000296144.3_Intron|TDGF1_ENST00000542931.1_Missense_Mutation_p.Y27C	NM_003212.3	NP_003203.1	P13385	TDGF1_HUMAN	teratocarcinoma-derived growth factor 1	43			Y -> D (in dbSNP:rs2293025).		activation of MAPK activity|anterior/posterior axis specification, embryo|mammary gland development|morphogenesis of a branching structure|negative regulation of apoptosis|peptidyl-serine phosphorylation|positive regulation of cell migration|positive regulation of peptidyl-tyrosine phosphorylation	anchored to membrane|cell surface|extrinsic to plasma membrane	growth factor activity			cervix(2)|endometrium(1)|kidney(1)|lung(4)	8				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0173)|Kidney(197;0.0204)		TCTCGGGGATACCTGGCCTTC	0.517													36	60					0	0	1	0	0	G	46620761	A	G	46620761	3	3	146	1	0	0	0	0	1	0	0	0	15785	391	14	3	138	3	TDGF1	3	46620761	Missense_Mutation	SNP	A	TCGA-DU-A7T6-01A-11D-A33T-08		46620761	151401669	21	22377											
PCBP4	57060	broad.mit.edu	37	3	51992879	51992879	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr3:51992879C>G	ENST00000461554.1	-	13	1181	c.850G>C	c.(850-852)Gct>Cct	p.A284P	PCBP4_ENST00000322099.7_Missense_Mutation_p.A284P|PCBP4_ENST00000395013.3_Missense_Mutation_p.A124P|PCBP4_ENST00000484633.1_Missense_Mutation_p.A241P|PCBP4_ENST00000395014.2_Missense_Mutation_p.A305P|PCBP4_ENST00000428823.2_Missense_Mutation_p.A241P|PCBP4_ENST00000471622.1_Missense_Mutation_p.A284P|PCBP4_ENST00000355852.2_Missense_Mutation_p.A284P	NM_001174100.1	NP_001167571.1	P57723	PCBP4_HUMAN	poly(rC) binding protein 4	284	KH 3.					cytoplasm|ribonucleoprotein complex	DNA binding|RNA binding			endometrium(2)|large_intestine(2)|lung(2)|prostate(1)|stomach(1)	8				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		CGCTCCCCAGCGCCCTCTGCT	0.637													18	123					0	0	1	0	0	G	51992879	C	G	51992879	3	3	146	1	0	0	0	0	1	0	0	0	11550	768	27	5	369	5	PCBP4	3	51992879	Missense_Mutation	SNP	C	TCGA-DU-A7T6-01A-11D-A33T-08	5372118	51992879	146029551	22	22378											
ROBO2	6092	broad.mit.edu	37	3	77645827	77645827	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr3:77645827C>G	ENST00000461745.1	+	19	3680	c.2780C>G	c.(2779-2781)tCt>tGt	p.S927C	ROBO2_ENST00000332191.8_Missense_Mutation_p.S927C|ROBO2_ENST00000487694.3_Missense_Mutation_p.S943C	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	927					apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		CTTGCTGATTCTTGGCCAGCC	0.438													30	231					0	0	1	0	0	G	77645827	C	G	77645827	3	3	146	1	0	0	0	0	1	0	0	0	13566	913	32	4	2856	4	ROBO2	3	77645827	Missense_Mutation	SNP	C	TCGA-DU-A7T6-01A-11D-A33T-08	25652948	77645827	120376603	23	22379											
HTR1F	3355	broad.mit.edu	37	3	88040261	88040261	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr3:88040261G>A	ENST00000319595.4	+	1	416	c.362G>A	c.(361-363)cGg>cAg	p.R121Q		NM_000866.3	NP_000857.1	P30939	5HT1F_HUMAN	5-hydroxytryptamine (serotonin) receptor 1F, G protein-coupled	121					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	serotonin binding|serotonin receptor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(8;0.147)	Lung NSC(201;0.0283)		LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00664)	Eletriptan(DB00216)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Zolmitriptan(DB00315)	GCTTTGGATCGGTATCGAGCA	0.438													27	72					0	0	1	0	0	A	88040261	G	A	88040261	3	1	146	1	0	0	0	0	1	0	0	0	7484	1116	39	1	364	1	HTR1F	3	88040261	Missense_Mutation	SNP	G	TCGA-DU-A7T6-01A-11D-A33T-08	10394434	88040261	109982169	24	22380											
ST3GAL6	10402	broad.mit.edu	37	3	98507067	98507068	+	Splice_Site	INS	-	-	T			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr3:98507067_98507068insT	ENST00000265261.6	+	7	686		c.e7+1		ST3GAL6_ENST00000394162.1_Splice_Site|ST3GAL6_ENST00000462152.1_Splice_Site|ST3GAL6_ENST00000483910.1_Splice_Site	NM_001271142.1|NM_001271147.1	NP_001258071.1|NP_001258076.1	Q9Y274	SIA10_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 6						amino sugar metabolic process|glycolipid metabolic process|protein glycosylation|protein lipoylation	integral to Golgi membrane	sialyltransferase activity			breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(1)	19						TGACAAAATAGTAAGTAGGCAA	0.356													63	89	---	---	---	---						T	98507068	-	T	98507067	8	5	146	1	0	1	1	0	0	0	1	0	15275	1043	36	0	641	0	ST3GAL6	3	98507067	Splice_Site	INS	-	TCGA-DU-A7T6-01A-11D-A33T-08	10466806	98507067	99515363	25	22381											
POLQ	10721	broad.mit.edu	37	3	121151849	121151849	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr3:121151849C>T	ENST00000264233.5	-	29	7703	c.7575G>A	c.(7573-7575)atG>atA	p.M2525I		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	2525					DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		TTGGGCAGAACATCCCTTGCA	0.403								DNA polymerases (catalytic subunits)					6	53					0	0	1	0	0	T	121151849	C	T	121151849	3	4	146	1	0	0	0	0	1	0	0	0	12256	478	17	2	205	2	POLQ	3	121151849	Missense_Mutation	SNP	C	TCGA-DU-A7T6-01A-11D-A33T-08	22644782	121151849	76870581	26	22382											
PPP2R3A	5523	broad.mit.edu	37	3	135721813	135721815	+	In_Frame_Del	DEL	ATT	ATT	-			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr3:135721813_135721815delATT	ENST00000264977.3	+	2	2090_2092	c.1473_1475delATT	c.(1471-1476)aaattt>aat	p.491_492KF>N	PPP2R3A_ENST00000490467.1_Intron	NM_001190447.1|NM_002718.4	NP_001177376.1|NP_002709.2	Q06190	P2R3A_HUMAN	protein phosphatase 2, regulatory subunit B'', alpha	491					protein dephosphorylation	protein phosphatase type 2A complex	calcium ion binding|protein binding|protein phosphatase type 2A regulator activity			breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						AAGTTTCTAAATTTGAAGAGGGA	0.335													65	102	---	---	---	---						-	135721815	ATT	-	135721813	7	5	146	1	0	1	0	1	0	0	0	0	12437	98	4	0	1475	0	PPP2R3A	3	135721813	In_Frame_Del	DEL	ATT	TCGA-DU-A7T6-01A-11D-A33T-08	14569964	135721813	62300617	27	22383											
PRR23B	389151	broad.mit.edu	37	3	138738956	138738956	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr3:138738956C>G	ENST00000329447.5	-	1	812	c.548G>C	c.(547-549)aGa>aCa	p.R183T	MRPS22_ENST00000495075.1_Intron	NM_001013650.2	NP_001013672.1	Q6ZRT6	PR23B_HUMAN	proline rich 23B	183										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GAACATACTTCTAGAGGAGGG	0.647													11	79					0	0	1	0	0	G	138738956	C	G	138738956	3	3	146	1	0	0	0	0	1	0	0	0	12646	913	32	4	253	4	PRR23B	3	138738956	Missense_Mutation	SNP	C	TCGA-DU-A7T6-01A-11D-A33T-08	3017143	138738956	59283474	28	22384											
LRRIQ4	344657	broad.mit.edu	37	3	169540297	169540297	+	Silent	SNP	C	C	T			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr3:169540297C>T	ENST00000340806.6	+	1	588	c.588C>T	c.(586-588)gaC>gaT	p.D196D		NM_001080460.1	NP_001073929.1	A6NIV6	LRIQ4_HUMAN	leucine-rich repeats and IQ motif containing 4	196								p.D196D(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30						TTGACCTGGACGAGAACAAAA	0.517													47	114					0	0	1	0	0	T	169540297	C	T	169540297	2	4	146	1	0	0	0	0	0	0	0	1	9076	535	19	1		1	LRRIQ4	3	169540297	Silent	SNP	C	TCGA-DU-A7T6-01A-11D-A33T-08	30801341	169540297	28482133	29	22385											
ADRA2C	152	broad.mit.edu	37	4	3769015	3769015	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr4:3769015C>G	ENST00000330055.5	+	1	891	c.682C>G	c.(682-684)Ctg>Gtg	p.L228V	ADRA2C_ENST00000509482.1_Missense_Mutation_p.L228V	NM_000683.3	NP_000674.2	P18825	ADA2C_HUMAN	adrenoceptor alpha 2C	228					activation of MAPK activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cell-cell signaling|energy reserve metabolic process|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|negative regulation of epinephrine secretion|negative regulation of norepinephrine secretion|positive regulation of neuron differentiation|regulation of insulin secretion	endosome|integral to plasma membrane	alpha-2A adrenergic receptor binding|alpha2-adrenergic receptor activity|epinephrine binding|protein heterodimerization activity|protein homodimerization activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	8				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)	Bethanidine(DB00217)|Brimonidine(DB00484)|Debrisoquin(DB04840)|Fenoldopam(DB00800)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Lofexidine(DB04948)|Norepinephrine(DB00368)|Yohimbine(DB01392)	CATCATGGGCCTGGTCTACGC	0.697													3	21					0	0	1	0	0	G	3769015	C	G	3769015	3	3	146	1	0	0	0	0	1	0	0	0	338	680	24	4	684	4	ADRA2C	4	3769015	Missense_Mutation	SNP	C	TCGA-DU-A7T6-01A-11D-A33T-08		3769015	187385261	30	22386											
CXCL1	2919	broad.mit.edu	37	4	74735501	74735501	+	Silent	SNP	C	C	G			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr4:74735501C>G	ENST00000395761.3	+	2	283	c.216C>G	c.(214-216)acC>acG	p.T72T	CXCL1_ENST00000509101.1_3'UTR	NM_001511.3	NP_001502.1	P09341	GROA_HUMAN	chemokine (C-X-C motif) ligand 1 (melanoma growth stimulating activity, alpha)	72					actin cytoskeleton organization|cell proliferation|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|inflammatory response|intracellular signal transduction|negative regulation of cell proliferation|nervous system development	extracellular space|intracellular	chemokine activity|enzyme activator activity|growth factor activity			lung(2)	2	Breast(15;0.00102)		all cancers(17;0.00176)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)			GCGCCCAAACCGAAGTCATGT	0.652													26	175					0	0	1	0	0	G	74735501	C	G	74735501	2	3	146	1	0	0	0	0	0	0	0	1	4100	639	23	5		5	CXCL1	4	74735501	Silent	SNP	C	TCGA-DU-A7T6-01A-11D-A33T-08	70966486	74735501	116418775	31	22387											
PRDM8	56978	broad.mit.edu	37	4	81121392	81121392	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr4:81121392A>G	ENST00000339711.4	+	8	1389	c.158A>G	c.(157-159)gAc>gGc	p.D53G	PRDM8_ENST00000504452.1_Missense_Mutation_p.D53G|PRDM8_ENST00000415738.2_Missense_Mutation_p.D53G	NM_020226.3	NP_064611.3	Q9NQV8	PRDM8_HUMAN	PR domain containing 8	53	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(2)	10						TCCCTATATGACAGCATAGCT	0.443													48	183					0	0	1	0	0	G	81121392	A	G	81121392	3	3	146	1	0	0	0	0	1	0	0	0	12514	275	10	3	160	3	PRDM8	4	81121392	Missense_Mutation	SNP	A	TCGA-DU-A7T6-01A-11D-A33T-08	6385891	81121392	110032884	32	22388											
TIGD4	201798	broad.mit.edu	37	4	153691335	153691335	+	Silent	SNP	C	C	T			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr4:153691335C>T	ENST00000304337.2	-	2	1642	c.822G>A	c.(820-822)gaG>gaA	p.E274E		NM_145720.3	NP_663772.1	Q8IY51	TIGD4_HUMAN	tigger transposable element derived 4	274	DDE.				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	chromatin binding|DNA binding			breast(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	26	all_hematologic(180;0.093)					CTTGAAATTCCTCATCAAGCT	0.398													33	197					0	0	1	0	0	T	153691335	C	T	153691335	2	4	146	1	0	0	0	0	0	0	0	1	15958	680	24	2		2	TIGD4	4	153691335	Silent	SNP	C	TCGA-DU-A7T6-01A-11D-A33T-08	72569943	153691335	37462941	33	22389											
FAT1	2195	broad.mit.edu	37	4	187539809	187539809	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr4:187539809T>C	ENST00000441802.2	-	10	8140	c.7931A>G	c.(7930-7932)gAg>gGg	p.E2644G		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2644	Cadherin 24.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TTCCAAATTCTCTTTTACACT	0.423										HNSCC(5;0.00058)			21	50					0	0	1	0	0	C	187539809	T	C	187539809	3	2	146	1	0	0	0	0	1	0	0	0	5722	1551	54	3	5907	3	FAT1	4	187539809	Missense_Mutation	SNP	T	TCGA-DU-A7T6-01A-11D-A33T-08	33848474	187539809	3614467	34	22390											
FOXD1	2297	broad.mit.edu	37	5	72743502	72743502	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr5:72743502G>C	ENST00000499003.3	-	1	850	c.686C>G	c.(685-687)cCc>cGc	p.P229R		NM_004472.2	NP_004463.1	Q16676	FOXD1_HUMAN	forkhead box D1	229					axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|metanephric capsule specification|negative regulation of transcription, DNA-dependent|neural crest cell migration|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			endometrium(1)|kidney(1)|lung(2)	4		Lung NSC(167;0.00327)|Ovarian(174;0.0175)|Prostate(461;0.151)		OV - Ovarian serous cystadenocarcinoma(47;1.07e-54)		cgcggcgttgggtgggagcag	0.761													6	24					0	0	1	0	0	C	72743502	G	C	72743502	3	2	146	1	0	0	0	0	1	0	0	0	6029	1232	43	5	713	5	FOXD1	5	72743502	Missense_Mutation	SNP	G	TCGA-DU-A7T6-01A-11D-A33T-08		72743502	108171758	35	22391											
MSH3	4437	broad.mit.edu	37	5	80064755	80064755	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr5:80064755A>G	ENST00000265081.6	+	15	2266	c.2186A>G	c.(2185-2187)cAt>cGt	p.H729R		NM_002439.4	NP_002430.3	P20585	MSH3_HUMAN	mutS homolog 3	729					maintenance of DNA repeat elements|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|somatic recombination of immunoglobulin gene segments	MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|enzyme binding|loop DNA binding|Y-form DNA binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)		ATCCGAATGCATTTGCAAGAA	0.328								Mismatch excision repair (MMR)					16	116					0	0	1	0	0	G	80064755	A	G	80064755	3	3	146	1	0	0	0	0	1	0	0	0	9920	217	8	3	2244	3	MSH3	5	80064755	Missense_Mutation	SNP	A	TCGA-DU-A7T6-01A-11D-A33T-08	7321253	80064755	100850505	36	22392											
CKMT2	1160	broad.mit.edu	37	5	80547053	80547053	+	Silent	SNP	G	G	A			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr5:80547053G>A	ENST00000424301.2	+	3	340	c.102G>A	c.(100-102)cgG>cgA	p.R34R	CKMT2-AS1_ENST00000503483.2_RNA|CKMT2-AS1_ENST00000512287.1_RNA|CKMT2-AS1_ENST00000505295.1_RNA|CKMT2_ENST00000505704.1_3'UTR|CKMT2_ENST00000437669.1_Silent_p.R34R|CKMT2-AS1_ENST00000502041.2_RNA|CKMT2-AS1_ENST00000501927.2_RNA|CKMT2_ENST00000254035.4_Silent_p.R34R|CKMT2-AS1_ENST00000500148.2_RNA|CKMT2-AS1_ENST00000511495.1_RNA	NM_001825.2	NP_001816.2	P17540	KCRS_HUMAN	creatine kinase, mitochondrial 2 (sarcomeric)	34					creatine metabolic process|muscle contraction	mitochondrial inner membrane	ATP binding|creatine kinase activity			breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(4)|urinary_tract(1)	17		Lung NSC(167;0.00475)|all_lung(232;0.00502)|Ovarian(174;0.0336)		OV - Ovarian serous cystadenocarcinoma(54;2.29e-44)|Epithelial(54;1.05e-38)|all cancers(79;4.15e-34)	Creatine(DB00148)	TGCTGAACCGGCAGAAAGTGT	0.547													4	269					0	0	1	0	0	A	80547053	G	A	80547053	2	1	146	1	0	0	0	0	0	0	0	1	3474	1190	42	2		2	CKMT2	5	80547053	Silent	SNP	G	TCGA-DU-A7T6-01A-11D-A33T-08	482298	80547053	100368207	37	22393											
KCNN2	3781	broad.mit.edu	37	5	113698753	113698753	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr5:113698753G>C	ENST00000512097.3	+	2	1299	c.281G>C	c.(280-282)gGc>gCc	p.G94A	KCNN2_ENST00000264773.3_Missense_Mutation_p.G94A			Q9H2S1	KCNN2_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2	94	Poly-Gly.					integral to membrane	calmodulin binding|small conductance calcium-activated potassium channel activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)		ggaggaggcggcggcggtggc	0.652													7	28					0	0	1	0	0	C	113698753	G	C	113698753	3	2	146	1	0	0	0	0	1	0	0	0	8123	1203	42	5	283	5	KCNN2	5	113698753	Missense_Mutation	SNP	G	TCGA-DU-A7T6-01A-11D-A33T-08	33151700	113698753	67216507	38	22394											
CSF2	1437	broad.mit.edu	37	5	131409573	131409573	+	Silent	SNP	C	C	T			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr5:131409573C>T	ENST00000296871.2	+	1	91	c.57C>T	c.(55-57)ccC>ccT	p.P19P		NM_000758.3	NP_000749.2	P04141	CSF2_HUMAN	colony stimulating factor 2 (granulocyte-macrophage)	19					immune response|negative regulation of cytolysis|positive regulation of DNA replication|positive regulation of interleukin-23 production|positive regulation of macrophage derived foam cell differentiation|positive regulation of podosome assembly|positive regulation of tyrosine phosphorylation of Stat5 protein	extracellular space	cytokine activity|granulocyte macrophage colony-stimulating factor receptor binding|growth factor activity			skin(1)	1		all_cancers(142;4.28e-07)|all_lung(232;2.81e-05)|Lung NSC(810;0.000693)|Lung SC(612;0.122)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		Sargramostim(DB00020)	TCTCTGCACCCGCCCGCTCGC	0.617													3	54					0	0	1	0	0	T	131409573	C	T	131409573	2	4	146	1	0	0	0	0	0	0	0	1	3958	639	23	1		1	CSF2	5	131409573	Silent	SNP	C	TCGA-DU-A7T6-01A-11D-A33T-08	17710820	131409573	49505687	39	22395											
PCDHB15	56121	broad.mit.edu	37	5	140627084	140627084	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr5:140627084C>G	ENST00000231173.3	+	1	1938	c.1938C>G	c.(1936-1938)gaC>gaG	p.D646E		NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN		646	Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGGTCAAGGACAATGGCGAGC	0.706													35	116					0	0	1	0	0	G	140627084	C	G	140627084	3	3	146	1	0	0	0	0	1	0	0	0	11587	477	17	5	1940	5	PCDHB15	5	140627084	Missense_Mutation	SNP	C	TCGA-DU-A7T6-01A-11D-A33T-08	9217511	140627084	40288176	40	22396											
FLT4	2324	broad.mit.edu	37	5	180047675	180047675	+	Silent	SNP	G	G	C			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr5:180047675G>C	ENST00000261937.6	-	16	2418	c.2340C>G	c.(2338-2340)gtC>gtG	p.V780V	FLT4_ENST00000502649.1_Silent_p.V780V|FLT4_ENST00000393347.3_Silent_p.V780V	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	780					positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	CGCCGGTACCGACAAGGATCA	0.592													7	60					0	0	1	0	0	C	180047675	G	C	180047675	2	2	146	1	0	0	0	0	0	0	0	1	5977	1045	37	5		5	FLT4	5	180047675	Silent	SNP	G	TCGA-DU-A7T6-01A-11D-A33T-08	39420591	180047675	867585	41	22397											
ZSCAN16	80345	broad.mit.edu	37	6	28093396	28093396	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr6:28093396C>T	ENST00000340487.4	+	2	324	c.175C>T	c.(175-177)Ctt>Ttt	p.L59F	ZSCAN16-AS1_ENST00000602810.1_RNA|ZSCAN16-AS1_ENST00000600652.1_RNA	NM_025231.1	NP_079507.1	Q9H4T2	ZSC16_HUMAN	zinc finger and SCAN domain containing 16	59	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(5)|liver(1)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						CCGTGAAGCTCTTACCCAGCT	0.537													61	244					0	0	1	0	0	T	28093396	C	T	28093396	3	4	146	1	0	0	0	0	1	0	0	0	18270	913	32	2	177	2	ZSCAN16	6	28093396	Missense_Mutation	SNP	C	TCGA-DU-A7T6-01A-11D-A33T-08		28093396	143021671	42	22398											
CUL9	23113	broad.mit.edu	37	6	43152296	43152296	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr6:43152296G>A	ENST00000252050.4	+	2	332	c.248G>A	c.(247-249)cGg>cAg	p.R83Q	CUL9_ENST00000354495.3_Missense_Mutation_p.R83Q|CUL9_ENST00000372647.2_Missense_Mutation_p.R83Q	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	83					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						TTAGGTGAGCGGGCACTATCT	0.572													33	93					0	0	1	0	0	A	43152296	G	A	43152296	3	1	146	1	0	0	0	0	1	0	0	0	4084	1116	39	1	250	1	CUL9	6	43152296	Missense_Mutation	SNP	G	TCGA-DU-A7T6-01A-11D-A33T-08	15058900	43152296	127962771	43	22399											
HOXA11	3207	broad.mit.edu	37	7	27224559	27224559	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr7:27224559G>C	ENST00000006015.3	-	1	276	c.205C>G	c.(205-207)Ccc>Gcc	p.P69A	HOXA11-AS_ENST00000520360.1_RNA|HOXA11-AS_ENST00000522863.1_RNA	NM_005523.5	NP_005514.1	P31270	HXA11_HUMAN	homeobox A11	69					branching involved in ureteric bud morphogenesis|cartilage development involved in endochondral bone morphogenesis|developmental growth|dorsal/ventral pattern formation|mesodermal cell fate specification|positive regulation of cell development|positive regulation of chondrocyte differentiation	protein-DNA complex|transcription factor complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	16						TTAGTGGCGGGCTCAATGGCG	0.657			T	NUP98	CML						OREG0003747	type=REGULATORY REGION|Gene=BC025338|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	9	97					0	0	1	0	0	C	27224559	G	C	27224559	3	2	146	1	0	0	0	0	1	0	0	0	7331	1203	42	5	744	5	HOXA11	7	27224559	Missense_Mutation	SNP	G	TCGA-DU-A7T6-01A-11D-A33T-08		27224559	131914104	44	22400											
ZNF479	90827	broad.mit.edu	37	7	57188424	57188424	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr7:57188424A>G	ENST00000331162.4	-	5	968	c.698T>C	c.(697-699)aTa>aCa	p.I233T		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	233					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			AGTATGAATTATTTTATGTGT	0.383													33	32					0	0	1	0	0	G	57188424	A	G	57188424	3	3	146	1	0	0	0	0	1	0	0	0	17990	449	16	3	880	3	ZNF479	7	57188424	Missense_Mutation	SNP	A	TCGA-DU-A7T6-01A-11D-A33T-08	29963865	57188424	101950239	45	22401											
ZAN	7455	broad.mit.edu	37	7	100334235	100334235	+	RNA	SNP	G	G	A			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr7:100334235G>A	ENST00000542585.1	+	0	384				ZAN_ENST00000538115.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000449052.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			GGGGCCCCCGGGGGGTACCCT	0.662													71	19					0	0	1	0	0	A	100334235	G	A	100334235	1	1	146	0	1	0	0	0	0	0	0	0	17573	1232	43	2		2	ZAN	7	100334235	RNA	SNP	G	TCGA-DU-A7T6-01A-11D-A33T-08	43145811	100334235	58804428	46	22402											
TSPAN12	23554	broad.mit.edu	37	7	120478922	120478922	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr7:120478922G>A	ENST00000222747.3	-	4	801	c.194C>T	c.(193-195)cCg>cTg	p.P65L	TSPAN12_ENST00000415871.1_Missense_Mutation_p.P65L	NM_012338.3	NP_036470.1	O95859	TSN12_HUMAN	tetraspanin 12	65					angiogenesis|cell surface receptor linked signaling pathway|regulation of angiogenesis|retina layer formation	integral to plasma membrane|membrane fraction		p.P65Q(1)		endometrium(3)|kidney(1)|lung(4)|ovary(1)|skin(1)	10	all_neural(327;0.117)					AATCATGACCGGATGAACCAC	0.373													4	324					0	0	1	0	0	A	120478922	G	A	120478922	3	1	146	1	0	0	0	0	1	0	0	0	16697	1116	39	1	743	1	TSPAN12	7	120478922	Missense_Mutation	SNP	G	TCGA-DU-A7T6-01A-11D-A33T-08	20144687	120478922	38659741	47	22403											
FLNC	2318	broad.mit.edu	37	7	128482936	128482936	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr7:128482936C>G	ENST00000325888.8	+	16	2739	c.2478C>G	c.(2476-2478)aaC>aaG	p.N826K	FLNC_ENST00000346177.6_Missense_Mutation_p.N826K	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	826					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						AGAATGACAACGACACCTTCA	0.592													21	70					0	0	1	0	0	G	128482936	C	G	128482936	3	3	146	1	0	0	0	0	1	0	0	0	5968	535	19	5	2540	5	FLNC	7	128482936	Missense_Mutation	SNP	C	TCGA-DU-A7T6-01A-11D-A33T-08	8004014	128482936	30655727	48	22404											
KIAA1549	57670	broad.mit.edu	37	7	138603381	138603381	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr7:138603381G>C	ENST00000440172.1	-	2	1039	c.991C>G	c.(991-993)Caa>Gaa	p.Q331E	KIAA1549_ENST00000422774.1_Missense_Mutation_p.Q331E|KIAA1549_ENST00000242365.4_Missense_Mutation_p.Q281E	NM_001164665.1|NM_020910.2	NP_001158137.1|NP_065961.2	Q9HCM3	K1549_HUMAN	KIAA1549	331						integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						TCTAGGCTTTGACTCAACACA	0.517			O	BRAF	pilocytic astrocytoma								32	163					0	0	1	0	0	C	138603381	G	C	138603381	3	2	146	1	0	0	0	0	1	0	0	0	8286	1299	45	5	4937	5	KIAA1549	7	138603381	Missense_Mutation	SNP	G	TCGA-DU-A7T6-01A-11D-A33T-08	10120445	138603381	20535282	49	22405											
HTR5A	3361	broad.mit.edu	37	7	154862767	154862767	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr7:154862767C>T	ENST00000287907.2	+	1	734	c.158C>T	c.(157-159)gCg>gTg	p.A53V	HTR5A-AS1_ENST00000395731.2_Missense_Mutation_p.A83T|HTR5A-AS1_ENST00000543018.1_Missense_Mutation_p.A83T|HTR5A-AS1_ENST00000493904.1_5'UTR	NM_024012.3	NP_076917.1	P47898	5HT5A_HUMAN	5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled	53						integral to plasma membrane	serotonin receptor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)		CTGGTGGCGGCGACGTTCGCC	0.642													8	80					0	0	1	0	0	T	154862767	C	T	154862767	3	4	146	1	0	0	0	0	1	0	0	0	7494	768	27	1	160	1	HTR5A	7	154862767	Missense_Mutation	SNP	C	TCGA-DU-A7T6-01A-11D-A33T-08	16259386	154862767	4275896	50	22406											
RP1L1	94137	broad.mit.edu	37	8	10480690	10480690	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr8:10480690C>A	ENST00000382483.3	-	2	245	c.22G>T	c.(22-24)Gcc>Tcc	p.A8S	RP1L1_ENST00000329335.3_5'UTR	NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	8					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		GGGGCCTGGGCATTCCTGGGG	0.632													41	62					4.44401e-20	4.68103e-20	1	1	0	A	10480690	C	A	10480690	3	1	146	1	0	0	0	0	1	0	0	0	13585	710	25	5	7192	5	RP1L1	8	10480690	Missense_Mutation	SNP	C	TCGA-DU-A7T6-01A-11D-A33T-08		10480690	135883332	51	22407											
GINS4	84296	broad.mit.edu	37	8	41397213	41397213	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr8:41397213C>T	ENST00000523277.2	+	5	481	c.314C>T	c.(313-315)cCt>cTt	p.P105L	RP11-360L9.4_ENST00000523081.1_RNA|GINS4_ENST00000518671.1_Missense_Mutation_p.P105L|GINS4_ENST00000276533.3_Missense_Mutation_p.P105L			Q9BRT9	SLD5_HUMAN	GINS complex subunit 4 (Sld5 homolog)	105					DNA strand elongation involved in DNA replication|S phase of mitotic cell cycle	cytoplasm|nucleoplasm				breast(1)|lung(2)|skin(1)	4	Ovarian(28;0.014)|Colorectal(14;0.0202)|Lung SC(25;0.211)	all_lung(54;0.00732)|Lung NSC(58;0.0207)|Hepatocellular(245;0.0462)|Esophageal squamous(32;0.0844)	Colorectal(10;0.0014)|OV - Ovarian serous cystadenocarcinoma(14;0.00329)|LUSC - Lung squamous cell carcinoma(45;0.0137)|COAD - Colon adenocarcinoma(11;0.0147)			AAGTTTTTCCCTCATGTCCTT	0.458													86	108					0	0	1	0	0	T	41397213	C	T	41397213	3	4	146	1	0	0	0	0	1	0	0	0	6432	681	24	2	328	2	GINS4	8	41397213	Missense_Mutation	SNP	C	TCGA-DU-A7T6-01A-11D-A33T-08	30916523	41397213	104966809	52	22408											
XKR4	114786	broad.mit.edu	37	8	56015369	56015369	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr8:56015369C>G	ENST00000327381.6	+	1	421	c.321C>G	c.(319-321)taC>taG	p.Y107*		NM_052898.1	NP_443130.1	Q5GH76	XKR4_HUMAN	XK, Kell blood group complex subunit-related family, member 4							integral to membrane				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34			Epithelial(17;0.000117)|all cancers(17;0.000836)			AGCGGCGCTACTCACTGTGGG	0.771													15	100					0	0	1	0	0	G	56015369	C	G	56015369	4	3	146	1	0	0	0	0	0	1	0	0	17493	576	20	4	323	4	XKR4	8	56015369	Nonsense_Mutation	SNP	C	TCGA-DU-A7T6-01A-11D-A33T-08	14618156	56015369	90348653	53	22409											
CDH17	1015	broad.mit.edu	37	8	95189844	95189844	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr8:95189844T>C	ENST00000027335.3	-	4	380	c.256A>G	c.(256-258)Agg>Ggg	p.R86G	CDH17_ENST00000450165.2_Missense_Mutation_p.R86G|CDH17_ENST00000441892.2_Missense_Mutation_p.R86G	NM_004063.3	NP_004054.3	Q12864	CAD17_HUMAN	cadherin 17, LI cadherin (liver-intestine)	86	Cadherin 1.					integral to membrane	calcium ion binding			NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			CTTGTTTCCCTGTCCAAGGCT	0.463													53	155					0	0	1	0	0	C	95189844	T	C	95189844	3	2	146	1	0	0	0	0	1	0	0	0	3124	1579	55	3	2302	3	CDH17	8	95189844	Missense_Mutation	SNP	T	TCGA-DU-A7T6-01A-11D-A33T-08	39174475	95189844	51174178	54	22410											
DPYS	1807	broad.mit.edu	37	8	105440214	105440214	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr8:105440214delT	ENST00000351513.2	-	6	1218	c.1086delA	c.(1084-1086)aaafs	p.K362fs		NM_001385.2	NP_001376.1	Q14117	DPYS_HUMAN	dihydropyrimidinase	362					protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process	cytosol	dihydropyrimidinase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			CCACCACGCCTTTTTCCCATA	0.478													7	362	---	---	---	---						-	105440214	T	-	105440214	7	5	146	1	0	1	0	1	0	0	0	0	4772	1606	56	0	489	0	DPYS	8	105440214	Frame_Shift_Del	DEL	T	TCGA-DU-A7T6-01A-11D-A33T-08	10250370	105440214	40923808	55	22411											
SAMD12	401474	broad.mit.edu	37	8	119452089	119452089	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr8:119452089T>G	ENST00000409003.4	-	3	432	c.304A>C	c.(304-306)Aaa>Caa	p.K102Q	SAMD12_ENST00000314727.4_Missense_Mutation_p.K102Q	NM_001101676.1	NP_001095146.1	Q8N8I0	SAM12_HUMAN	sterile alpha motif domain containing 12	102	SAM.									endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)	9	all_cancers(13;3.91e-25)|Lung NSC(37;1.13e-07)|Ovarian(258;0.0249)		STAD - Stomach adenocarcinoma(47;0.00391)			TCATGCTGTTTGAATGACTCA	0.433													92	146					0	0	1	0	0	G	119452089	T	G	119452089	3	3	146	1	0	0	0	0	1	0	0	0	13869	1821	63	5	336	5	SAMD12	8	119452089	Missense_Mutation	SNP	T	TCGA-DU-A7T6-01A-11D-A33T-08	14011875	119452089	26911933	56	22412											
PLEC	5339	broad.mit.edu	37	8	144990713	144990713	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr8:144990713G>A	ENST00000322810.4	-	32	13856	c.13687C>T	c.(13687-13689)Cgt>Tgt	p.R4563C	PLEC_ENST00000357649.2_Missense_Mutation_p.R4430C|PLEC_ENST00000398774.2_Missense_Mutation_p.R4394C|PLEC_ENST00000356346.3_Missense_Mutation_p.R4412C|PLEC_ENST00000354958.2_Missense_Mutation_p.R4404C|PLEC_ENST00000527096.1_Missense_Mutation_p.R4449C|PLEC_ENST00000436759.2_Missense_Mutation_p.R4453C|PLEC_ENST00000354589.3_Missense_Mutation_p.R4426C|PLEC_ENST00000345136.3_Missense_Mutation_p.R4426C	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	4563	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CCCACGTCACGCAGCTTCTGT	0.682													5	225					0	0	1	0	0	A	144990713	G	A	144990713	3	1	146	1	0	0	0	0	1	0	0	0	12100	1087	38	1	371	1	PLEC	8	144990713	Missense_Mutation	SNP	G	TCGA-DU-A7T6-01A-11D-A33T-08	25538624	144990713	1373309	57	22413											
PLEC	5339	broad.mit.edu	37	8	144997340	144997340	+	Missense_Mutation	SNP	C	C	G	rs62641756	by1000genomes	TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr8:144997340C>G	ENST00000322810.4	-	31	7337	c.7168G>C	c.(7168-7170)Gca>Cca	p.A2390P	PLEC_ENST00000357649.2_Missense_Mutation_p.A2257P|PLEC_ENST00000398774.2_Missense_Mutation_p.A2221P|PLEC_ENST00000356346.3_Missense_Mutation_p.A2239P|PLEC_ENST00000354958.2_Missense_Mutation_p.A2231P|PLEC_ENST00000527096.1_Missense_Mutation_p.A2276P|PLEC_ENST00000436759.2_Missense_Mutation_p.A2280P|PLEC_ENST00000354589.3_Missense_Mutation_p.A2253P|PLEC_ENST00000345136.3_Missense_Mutation_p.A2253P	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2390	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						AAGATGAGTGCGCGGTTCTCA	0.642													9	47					0	0	1	0	0	G	144997340	C	G	144997340	3	3	146	1	0	0	0	0	1	0	0	0	12100	768	27	5	6894	5	PLEC	8	144997340	Missense_Mutation	SNP	C	TCGA-DU-A7T6-01A-11D-A33T-08	6627	144997340	1366682	58	22414											
PLEC	5339	broad.mit.edu	37	8	144997377	144997377	+	Silent	SNP	C	C	G			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr8:144997377C>G	ENST00000322810.4	-	31	7300	c.7131G>C	c.(7129-7131)ctG>ctC	p.L2377L	PLEC_ENST00000357649.2_Silent_p.L2244L|PLEC_ENST00000398774.2_Silent_p.L2208L|PLEC_ENST00000356346.3_Silent_p.L2226L|PLEC_ENST00000354958.2_Silent_p.L2218L|PLEC_ENST00000527096.1_Silent_p.L2263L|PLEC_ENST00000436759.2_Silent_p.L2267L|PLEC_ENST00000354589.3_Silent_p.L2240L|PLEC_ENST00000345136.3_Silent_p.L2240L	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2377	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						TGAGCTTGCTCAGCTCCTCCA	0.637													8	70					0	0	1	0	0	G	144997377	C	G	144997377	2	3	146	1	0	0	0	0	0	0	0	1	12100	813	29	5		5	PLEC	8	144997377	Silent	SNP	C	TCGA-DU-A7T6-01A-11D-A33T-08	37	144997377	1366645	59	22415											
UNC13B	10497	broad.mit.edu	37	9	35389883	35389883	+	Missense_Mutation	SNP	G	G	A	rs147799499		TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr9:35389883G>A	ENST00000378495.3	+	24	3110	c.2888G>A	c.(2887-2889)cGg>cAg	p.R963Q	UNC13B_ENST00000396787.1_Missense_Mutation_p.R975Q|UNC13B_ENST00000378496.4_Missense_Mutation_p.R963Q	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	unc-13 homolog B (C. elegans)	963					excretion|induction of apoptosis|intracellular signal transduction	cell junction|Golgi apparatus|synapse	metal ion binding|receptor activity	p.R963Q(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			CCCAGCATTCGGAACCTGGAT	0.493													48	53					0	0	1	0	0	A	35389883	G	A	35389883	3	1	146	1	0	0	0	0	1	0	0	0	17045	1116	39	1	2982	1	UNC13B	9	35389883	Missense_Mutation	SNP	G	TCGA-DU-A7T6-01A-11D-A33T-08		35389883	105823548	60	22416											
FGD3	89846	broad.mit.edu	37	9	95797674	95797674	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr9:95797674G>C	ENST00000375482.3	+	18	2477	c.1981G>C	c.(1981-1983)Gac>Cac	p.D661H	FGD3_ENST00000337352.6_Missense_Mutation_p.D661H|FGD3_ENST00000538555.1_Missense_Mutation_p.D264H|FGD3_ENST00000416701.2_Missense_Mutation_p.D660H	NM_001083536.1	NP_001077005.1	Q5JSP0	FGD3_HUMAN	FYVE, RhoGEF and PH domain containing 3	661	PH 2.				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1)	17						GAGTGTGCCGGACCCTGAGGA	0.677													4	11					0	0	1	0	0	C	95797674	G	C	95797674	3	2	146	1	0	0	0	0	1	0	0	0	5867	1174	41	5	2043	5	FGD3	9	95797674	Missense_Mutation	SNP	G	TCGA-DU-A7T6-01A-11D-A33T-08	60407791	95797674	45415757	61	22417											
C5	727	broad.mit.edu	37	9	123742403	123742403	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr9:123742403G>A	ENST00000223642.1	-	28	3645	c.3616C>T	c.(3616-3618)Cgt>Tgt	p.R1206C		NM_001735.2	NP_001726.2	P01031	CO5_HUMAN	complement component 5	1206					activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|G-protein coupled receptor protein signaling pathway|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production	extracellular space|membrane attack complex	chemokine activity|endopeptidase inhibitor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)	ACAATTGAACGAAACTGTGGG	0.408													29	77					0	0	1	0	0	A	123742403	G	A	123742403	3	1	146	1	0	0	0	0	1	0	0	0	2295	1058	37	1	1470	1	C5	9	123742403	Missense_Mutation	SNP	G	TCGA-DU-A7T6-01A-11D-A33T-08	27944729	123742403	17471028	62	22418											
COL5A1	1289	broad.mit.edu	37	9	137708918	137708918	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr9:137708918G>A	ENST00000371817.3	+	53	4583	c.4169G>A	c.(4168-4170)gGa>gAa	p.G1390E		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	1390	Triple-helical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		GGGCCTCCAGGAAAAAGGGTA	0.572													12	45					0	0	1	0	0	A	137708918	G	A	137708918	3	1	146	1	0	0	0	0	1	0	0	0	3719	1174	41	2	4379	2	COL5A1	9	137708918	Missense_Mutation	SNP	G	TCGA-DU-A7T6-01A-11D-A33T-08	13966515	137708918	3504513	63	22419											
KIAA1217	56243	broad.mit.edu	37	10	24834864	24834864	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr10:24834864C>G	ENST00000376454.3	+	21	5473	c.5443C>G	c.(5443-5445)Ctg>Gtg	p.L1815V	KIAA1217_ENST00000376451.2_3'UTR|KIAA1217_ENST00000458595.1_Missense_Mutation_p.L1221V|KIAA1217_ENST00000376462.1_Missense_Mutation_p.L1136V|KIAA1217_ENST00000396445.1_3'UTR|KIAA1217_ENST00000376452.3_Missense_Mutation_p.L1246V	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217	1815	Ser-rich.				embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						AAGCAGTTCTCTGCCCTCTTC	0.512													39	203					0	0	1	0	0	G	24834864	C	G	24834864	3	3	146	1	0	0	0	0	1	0	0	0	8258	912	32	4	5525	4	KIAA1217	10	24834864	Missense_Mutation	SNP	C	TCGA-DU-A7T6-01A-11D-A33T-08		24834864	110699883	64	22420											
LRRC18	474354	broad.mit.edu	37	10	50122062	50122062	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr10:50122062G>C	ENST00000374160.3	-	1	215	c.139C>G	c.(139-141)Ctg>Gtg	p.L47V	WDFY4_ENST00000325239.5_Intron|RP11-523O18.7_ENST00000430438.1_RNA|WDFY4_ENST00000413659.2_Intron|LRRC18_ENST00000298124.3_Missense_Mutation_p.L47V	NM_001006939.3	NP_001006940.3	Q8N456	LRC18_HUMAN	leucine rich repeat containing 18	47						cytoplasm				NS(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	18						CTAAGGCGCAGAATACACTTG	0.507													28	144					0	0	1	0	0	C	50122062	G	C	50122062	3	2	146	1	0	0	0	0	1	0	0	0	9019	933	33	4	654	4	LRRC18	10	50122062	Missense_Mutation	SNP	G	TCGA-DU-A7T6-01A-11D-A33T-08	25287198	50122062	85412685	65	22421											
MBL2	4153	broad.mit.edu	37	10	54530513	54530513	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr10:54530513C>T	ENST00000373968.3	-	2	285	c.221G>A	c.(220-222)gGa>gAa	p.G74E		NM_000242.2	NP_000233.1	P11226	MBL2_HUMAN	mannose-binding lectin (protein C) 2, soluble	74	Collagen-like.				acute-phase response|complement activation, classical pathway|complement activation, lectin pathway|defense response to Gram-positive bacterium|negative regulation of growth of symbiont in host|opsonization|response to oxidative stress	collagen|extracellular space	bacterial cell surface binding|calcium-dependent protein binding|eukaryotic cell surface binding|mannose binding|receptor binding			breast(1)|endometrium(2)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21						CCCCAACTTTCCAGGGGGGCC	0.522													54	145					0	0	1	0	0	T	54530513	C	T	54530513	3	4	146	1	0	0	0	0	1	0	0	0	9400	855	30	2	537	2	MBL2	10	54530513	Missense_Mutation	SNP	C	TCGA-DU-A7T6-01A-11D-A33T-08	4408451	54530513	81004234	66	22422											
SLIT1	6585	broad.mit.edu	37	10	98924616	98924616	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr10:98924616G>A	ENST00000266058.4	-	2	474	c.229C>T	c.(229-231)Cat>Tat	p.H77Y	SLIT1_ENST00000456008.2_5'UTR|SLIT1_ENST00000371070.4_Missense_Mutation_p.H77Y|ARHGAP19-SLIT1_ENST00000453547.2_Silent_p.S502S|SLIT1_ENST00000371041.3_Missense_Mutation_p.H77Y	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	77					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)		TCATTCTTATGGATCCGAGTG	0.617													42	80					0	0	1	0	0	A	98924616	G	A	98924616	3	1	146	1	0	0	0	0	1	0	0	0	14793	1348	47	2	4519	2	SLIT1	10	98924616	Missense_Mutation	SNP	G	TCGA-DU-A7T6-01A-11D-A33T-08	44394103	98924616	36610131	67	22423											
PPAPDC1A	196051	broad.mit.edu	37	10	122334784	122334784	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr10:122334784G>A	ENST00000398250.1	+	6	939	c.587G>A	c.(586-588)cGc>cAc	p.R196H	PPAPDC1A_ENST00000369073.3_Missense_Mutation_p.R186H|PPAPDC1A_ENST00000439221.1_Missense_Mutation_p.R133H|PPAPDC1A_ENST00000398248.1_Intron|PPAPDC1A_ENST00000541332.1_Missense_Mutation_p.R196H|PPAPDC1A_ENST00000496437.1_3'UTR	NM_001030059.1	NP_001025230.1	Q5VZY2	PPC1A_HUMAN	phosphatidic acid phosphatase type 2 domain containing 1A	196	Phosphatase sequence motif III.				phospholipid dephosphorylation	integral to membrane	phosphatidate phosphatase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1)	20		Lung NSC(174;0.1)|all_lung(145;0.132)		all cancers(201;0.0117)		GCCCTGTCCCGCATGTGCGAC	0.607													4	90					0	0	1	0	0	A	122334784	G	A	122334784	3	1	146	1	0	0	0	0	1	0	0	0	12338	1087	38	1	609	1	PPAPDC1A	10	122334784	Missense_Mutation	SNP	G	TCGA-DU-A7T6-01A-11D-A33T-08	23410168	122334784	13199963	68	22424											
MUC5B	727897	broad.mit.edu	37	11	1269713	1269713	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr11:1269713C>G	ENST00000447027.1	+	31	11670	c.11612C>G	c.(11611-11613)aCc>aGc	p.T3871S	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000529681.1_Missense_Mutation_p.T3868S			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3868	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GTGCCGACTACCACAACCACG	0.637													22	134					0	0	1	0	0	G	1269713	C	G	1269713	3	3	146	1	0	0	0	0	1	0	0	0	10027	507	18	5	11734	5	MUC5B	11	1269713	Missense_Mutation	SNP	C	TCGA-DU-A7T6-01A-11D-A33T-08		1269713	133736803	69	22425											
SLC22A18	5002	broad.mit.edu	37	11	2940615	2940615	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr11:2940615C>G	ENST00000380574.1	+	8	1273	c.842C>G	c.(841-843)tCc>tGc	p.S281C	SLC22A18_ENST00000312221.5_Missense_Mutation_p.S281C|SLC22A18_ENST00000449793.2_Missense_Mutation_p.S183C|SLC22A18_ENST00000347936.2_Missense_Mutation_p.S281C|SLC22A18_ENST00000441077.1_3'UTR			Q96BI1	S22AI_HUMAN	solute carrier family 22, member 18	281					excretion|organic cation transport	apical plasma membrane|cytoplasmic part|integral to membrane|nuclear envelope	drug:hydrogen antiporter activity|symporter activity|ubiquitin protein ligase binding			central_nervous_system(2)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	8		all_epithelial(84;0.000124)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)|all_lung(207;0.198)		BRCA - Breast invasive adenocarcinoma(625;0.00256)|LUSC - Lung squamous cell carcinoma(625;0.192)		TACCTCATGTCCTTCTTCGGG	0.632													15	118					0	0	1	0	0	G	2940615	C	G	2940615	3	3	146	1	0	0	0	0	1	0	0	0	14504	855	30	5	868	5	SLC22A18	11	2940615	Missense_Mutation	SNP	C	TCGA-DU-A7T6-01A-11D-A33T-08	1670902	2940615	132065901	70	22426											
ZNF143	7702	broad.mit.edu	37	11	9519288	9519288	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr11:9519288A>C	ENST00000396602.2	+	10	1027	c.908A>C	c.(907-909)aAt>aCt	p.N303T	ZNF143_ENST00000396604.1_Missense_Mutation_p.N302T|ZNF143_ENST00000299606.2_Missense_Mutation_p.N275T|ZNF143_ENST00000396597.3_Missense_Mutation_p.N272T|ZNF143_ENST00000530463.1_Missense_Mutation_p.N302T	NM_001282656.1|NM_001282657.1|NM_003442.5	NP_001269585.1|NP_001269586.1|NP_003433.3	P52747	ZN143_HUMAN	zinc finger protein 143	303					regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding|zinc ion binding			endometrium(1)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	13				all cancers(16;4.12e-09)|Epithelial(150;2.29e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0212)		TCGGAAGATAATTGTACTAAA	0.308													36	81					0	0	1	0	0	C	9519288	A	C	9519288	3	2	146	1	0	0	0	0	1	0	0	0	17790	101	4	4	942	4	ZNF143	11	9519288	Missense_Mutation	SNP	A	TCGA-DU-A7T6-01A-11D-A33T-08	6578673	9519288	125487228	71	22427											
CCDC73	493860	broad.mit.edu	37	11	32635985	32635985	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr11:32635985C>T	ENST00000335185.5	-	16	1922	c.1879G>A	c.(1879-1881)Gca>Aca	p.A627T		NM_001008391.2	NP_001008392.2	Q6ZRK6	CCD73_HUMAN	coiled-coil domain containing 73	627										NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	51	Breast(20;0.112)					TCCAAATCTGCTTTGGTTTGG	0.343													4	154					0	0	1	0	0	T	32635985	C	T	32635985	3	4	146	1	0	0	0	0	1	0	0	0	2866	797	28	2	1372	2	CCDC73	11	32635985	Missense_Mutation	SNP	C	TCGA-DU-A7T6-01A-11D-A33T-08	23116697	32635985	102370531	72	22428											
OR4B1	119765	broad.mit.edu	37	11	48238763	48238763	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr11:48238763C>G	ENST00000309562.2	+	1	420	c.402C>G	c.(400-402)atC>atG	p.I134M		NM_001005470.1	NP_001005470.1	Q8NGF8	OR4B1_HUMAN	olfactory receptor, family 4, subfamily B, member 1	134					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						TGAACATTATCAGTCGTCAAC	0.463													32	170					0	0	1	0	0	G	48238763	C	G	48238763	3	3	146	1	0	0	0	0	1	0	0	0	11092	816	29	5	404	5	OR4B1	11	48238763	Missense_Mutation	SNP	C	TCGA-DU-A7T6-01A-11D-A33T-08	15602778	48238763	86767753	73	22429											
MS4A12	54860	broad.mit.edu	37	11	60274258	60274258	+	Missense_Mutation	SNP	G	G	A	rs147008825	byFrequency	TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr11:60274258G>A	ENST00000016913.4	+	6	703	c.646G>A	c.(646-648)Gta>Ata	p.V216I	MS4A12_ENST00000537076.1_Missense_Mutation_p.V170I	NM_017716.2	NP_060186.2	Q9NXJ0	M4A12_HUMAN	membrane-spanning 4-domains, subfamily A, member 12	216						integral to membrane	receptor activity			breast(1)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)	17						GGAGTTCTTCGTAGCTTGTGC	0.423													33	80					0	0	1	0	0	A	60274258	G	A	60274258	3	1	146	1	0	0	0	0	1	0	0	0	9905	1145	40	1	664	1	MS4A12	11	60274258	Missense_Mutation	SNP	G	TCGA-DU-A7T6-01A-11D-A33T-08	12035495	60274258	74732258	74	22430											
IGHMBP2	3508	broad.mit.edu	37	11	68682348	68682348	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr11:68682348C>G	ENST00000255078.3	+	6	880	c.769C>G	c.(769-771)Ctg>Gtg	p.L257V	IGHMBP2_ENST00000539224.1_3'UTR	NM_002180.2	NP_002171.2	P38935	SMBP2_HUMAN	immunoglobulin mu binding protein 2	257	Leu-rich.				cell death|DNA recombination|DNA repair|DNA replication|protein homooligomerization|transcription, DNA-dependent|translation	axon|growth cone|nucleus|ribonucleoprotein complex	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' RNA helicase activity|ribosome binding|single-stranded DNA binding|transcription factor binding|tRNA binding|zinc ion binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|liver(1)|lung(15)|ovary(2)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			GCGCCTGGCTCTGTGTAAGCA	0.592													33	162					0	0	1	0	0	G	68682348	C	G	68682348	3	3	146	1	0	0	0	0	1	0	0	0	7635	912	32	4	791	4	IGHMBP2	11	68682348	Missense_Mutation	SNP	C	TCGA-DU-A7T6-01A-11D-A33T-08	8408090	68682348	66324168	75	22431											
CCND1	595	broad.mit.edu	37	11	69458623	69458623	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr11:69458623C>G	ENST00000227507.2	+	3	665	c.438C>G	c.(436-438)aaC>aaG	p.N146K	CCND1_ENST00000536559.1_Intron	NM_053056.2	NP_444284.1	P24385	CCND1_HUMAN	cyclin D1	146	Cyclin N-terminal.				cell division|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|mitotic cell cycle G1/S transition DNA damage checkpoint|positive regulation of cyclin-dependent protein kinase activity|positive regulation of protein phosphorylation|response to drug|response to UV-A|S phase of mitotic cell cycle	cyclin-dependent protein kinase holoenzyme complex|cytosol|membrane|nucleoplasm	protein kinase binding			NS(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|ovary(1)|urinary_tract(1)	23	all_cancers(3;2.01e-114)|all_epithelial(3;3.59e-122)|Breast(3;5.4e-34)|all_lung(4;1.99e-21)|Lung NSC(4;4.65e-21)|Hepatocellular(3;8.22e-16)|Melanoma(5;1.89e-05)|Ovarian(3;0.0348)		Epithelial(3;7.2e-57)|all cancers(3;7.75e-51)|BRCA - Breast invasive adenocarcinoma(2;4.9e-48)|Lung(3;1.13e-16)|LUSC - Lung squamous cell carcinoma(11;3.74e-15)|STAD - Stomach adenocarcinoma(18;0.0278)|LUAD - Lung adenocarcinoma(13;0.0537)		Arsenic trioxide(DB01169)	TCCTGGTGAACAAGCTCAAGT	0.622			T	"IGH@, FSTL3"	"CLL, B-ALL, breast"					Multiple Myeloma(6;0.086)			16	77					0	0	1	0	0	G	69458623	C	G	69458623	3	3	146	1	0	0	0	0	1	0	0	0	2938	477	17	5	448	5	CCND1	11	69458623	Missense_Mutation	SNP	C	TCGA-DU-A7T6-01A-11D-A33T-08	776275	69458623	65547893	76	22432											
FOLR4	390243	broad.mit.edu	37	11	94038838	94038838	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr11:94038838G>A	ENST00000440961.2	+	1	80	c.36G>A	c.(34-36)tgG>tgA	p.W12*		NM_001199206.1	NP_001186135.1	A6ND01	FOLR4_HUMAN	folate receptor 4, delta (putative)	12						extracellular region	folic acid binding|receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14						TAGAGCTGTGGACAGTCATGC	0.577													12	161					0	0	1	0	0	A	94038838	G	A	94038838	4	1	146	1	0	0	0	0	0	1	0	0	6017	1183	41	2	38	2	FOLR4	11	94038838	Nonsense_Mutation	SNP	G	TCGA-DU-A7T6-01A-11D-A33T-08	24580215	94038838	40967678	77	22433											
C11orf63	79864	broad.mit.edu	37	11	122805551	122805554	+	Frame_Shift_Del	DEL	AAAG	AAAG	-			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr11:122805551_122805554delAAAG	ENST00000227349.2	+	5	1699_1702	c.1402_1405delAAAG	c.(1402-1407)aaagaafs	p.KE468fs	C11orf63_ENST00000531316.1_Frame_Shift_Del_p.KE468fs	NM_024806.2	NP_079082.2	Q6NUN7	CK063_HUMAN	chromosome 11 open reading frame 63	468										breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	47		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)		GAATGTTAATAAAGAAAGAGGACA	0.377													32	159	---	---	---	---						-	122805554	AAAG	-	122805551	7	5	146	1	0	1	0	1	0	0	0	0	1659	363	13	0	1480	0	C11orf63	11	122805551	Frame_Shift_Del	DEL	AAAG	TCGA-DU-A7T6-01A-11D-A33T-08	28766713	122805551	12200965	78	22434											
VWF	7450	broad.mit.edu	37	12	6103064	6103064	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr12:6103064C>T	ENST00000261405.5	-	37	6816	c.6562G>A	c.(6562-6564)Ggg>Agg	p.G2188R		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	2188					blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	ACGCAGACCCCGTTGGTCCGA	0.557													16	49					0	0	1	0	0	T	6103064	C	T	6103064	3	4	146	1	0	0	0	0	1	0	0	0	17306	652	23	1	1943	1	VWF	12	6103064	Missense_Mutation	SNP	C	TCGA-DU-A7T6-01A-11D-A33T-08		6103064	127748831	79	22435											
ZDHHC17	23390	broad.mit.edu	37	12	77242026	77242026	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr12:77242026C>G	ENST00000426126.2	+	15	2170	c.1521C>G	c.(1519-1521)caC>caG	p.H507Q	ZDHHC17_ENST00000550789.1_3'UTR|ZDHHC17_ENST00000334822.5_Missense_Mutation_p.H507Q	NM_015336.2	NP_056151.2	Q8IUH5	ZDH17_HUMAN	zinc finger, DHHC-type containing 17	507					lipoprotein transport|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi-associated vesicle membrane|integral to membrane	magnesium ion transmembrane transporter activity|protein binding|protein-cysteine S-palmitoleyltransferase activity|signal transducer activity|zinc ion binding			breast(2)|endometrium(2)|large_intestine(3)|liver(2)|lung(14)	23						GGGGACTCCACTGTGAGACCA	0.428													7	52					0	0	1	0	0	G	77242026	C	G	77242026	3	3	146	1	0	0	0	0	1	0	0	0	17665	564	20	4	1579	4	ZDHHC17	12	77242026	Missense_Mutation	SNP	C	TCGA-DU-A7T6-01A-11D-A33T-08	71138962	77242026	56609869	80	22436											
RAB35	11021	broad.mit.edu	37	12	120546229	120546229	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr12:120546229G>C	ENST00000229340.5	-	2	283	c.95C>G	c.(94-96)aCt>aGt	p.T32S	RAB35_ENST00000534951.1_Missense_Mutation_p.T32S	NM_001167606.1|NM_006861.6	NP_001161078.1|NP_006852.1	Q15286	RAB35_HUMAN	RAB35, member RAS oncogene family	32					cytokinesis|endosome transport|protein transport|small GTPase mediated signal transduction	cell projection membrane|clathrin-coated endocytic vesicle|coated pit|endosome|intercellular bridge|melanosome	GTP binding|GTPase activity|phosphatidylinositol-4,5-bisphosphate binding			endometrium(1)|ovary(1)	2	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.248)		ACCTGAGAAAGTGTTGTCTGC	0.572													12	48					0	0	1	0	0	C	120546229	G	C	120546229	3	2	146	1	0	0	0	0	1	0	0	0	12977	1029	36	4	530	4	RAB35	12	120546229	Missense_Mutation	SNP	G	TCGA-DU-A7T6-01A-11D-A33T-08	43304203	120546229	13305666	81	22437											
MPHOSPH9	10198	broad.mit.edu	37	12	123678974	123678974	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr12:123678974T>C	ENST00000606320.1	-	13	2406	c.2200A>G	c.(2200-2202)Aaa>Gaa	p.K734E	MPHOSPH9_ENST00000541076.2_Missense_Mutation_p.K704E|MPHOSPH9_ENST00000302349.5_Missense_Mutation_p.K582E|MPHOSPH9_ENST00000392425.3_Missense_Mutation_p.K582E			Q99550	MPP9_HUMAN	M-phase phosphoprotein 9	582					M phase of mitotic cell cycle	centriole|Golgi membrane				NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(18)|prostate(2)|skin(1)	33	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000182)|Epithelial(86;0.00046)|BRCA - Breast invasive adenocarcinoma(302;0.169)		TGAGCTTCTTTATCATCTGAG	0.308													20	32					0	0	1	0	0	C	123678974	T	C	123678974	3	2	146	1	0	0	0	0	1	0	0	0	9777	1763	61	3	1399	3	MPHOSPH9	12	123678974	Missense_Mutation	SNP	T	TCGA-DU-A7T6-01A-11D-A33T-08	3132745	123678974	10172921	82	22438											
ATP8A2	51761	broad.mit.edu	37	13	26411376	26411376	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr13:26411376C>T	ENST00000381655.2	+	29	2972	c.2830C>T	c.(2830-2832)Ccc>Tcc	p.P944S	ATP8A2_ENST00000491840.1_3'UTR|ATP8A2_ENST00000255283.8_Missense_Mutation_p.P879S	NM_016529.4	NP_057613.4	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8A, member 2	904					ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	p.P944S(1)		breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		GCTCAGGTTTCCCCAGCTCTA	0.493													16	133					0	0	1	0	0	T	26411376	C	T	26411376	3	4	146	1	0	0	0	0	1	0	0	0	1191	855	30	2	2944	2	ATP8A2	13	26411376	Missense_Mutation	SNP	C	TCGA-DU-A7T6-01A-11D-A33T-08		26411376	88758502	83	22439											
DIAPH3	81624	broad.mit.edu	37	13	60490363	60490363	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr13:60490363G>A	ENST00000400324.4	-	19	2411	c.2191C>T	c.(2191-2193)Cgg>Tgg	p.R731W	DIAPH3_ENST00000400330.1_Missense_Mutation_p.R731W|DIAPH3_ENST00000267215.4_Missense_Mutation_p.R731W|DIAPH3_ENST00000465066.1_5'UTR|DIAPH3_ENST00000400320.1_Missense_Mutation_p.R685W|DIAPH3_ENST00000377908.2_Missense_Mutation_p.R720W|DIAPH3_ENST00000400319.1_Missense_Mutation_p.R661W	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN	diaphanous-related formin 3	731	FH2.				actin cytoskeleton organization		actin binding|Rho GTPase binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		TATGGCACCCGAAAAGAGCTC	0.343													14	80					0	0	1	0	0	A	60490363	G	A	60490363	3	1	146	1	0	0	0	0	1	0	0	0	4548	1057	37	1	1450	1	DIAPH3	13	60490363	Missense_Mutation	SNP	G	TCGA-DU-A7T6-01A-11D-A33T-08	34078987	60490363	54679515	84	22440											
MYO16	23026	broad.mit.edu	37	13	109777629	109777629	+	Silent	SNP	G	G	C			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr13:109777629G>C	ENST00000356711.2	+	30	3765	c.3639G>C	c.(3637-3639)cgG>cgC	p.R1213R	MYO16_ENST00000457511.2_Silent_p.R725R|MYO16_ENST00000357550.2_Silent_p.R1213R	NM_015011.1	NP_055826.1	Q9Y6X6	MYO16_HUMAN	myosin XVI	1213					cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity			NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			AAAATGACCGGCTCCGTAGTG	0.473													33	35					0	0	1	0	0	C	109777629	G	C	109777629	2	2	146	1	0	0	0	0	0	0	0	1	10112	1190	42	5		5	MYO16	13	109777629	Silent	SNP	G	TCGA-DU-A7T6-01A-11D-A33T-08	49287266	109777629	5392249	85	22441											
COL4A2	1284	broad.mit.edu	37	13	111109707	111109707	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr13:111109707A>G	ENST00000360467.5	+	21	1663	c.1357A>G	c.(1357-1359)Aaa>Gaa	p.K453E	COL4A2-AS2_ENST00000458403.2_RNA	NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	453	Triple-helical region.				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			GTTTGGGCTGAAAGGAGCAAA	0.632													11	54					0	0	1	0	0	G	111109707	A	G	111109707	3	3	146	1	0	0	0	0	1	0	0	0	3713	247	9	3	1435	3	COL4A2	13	111109707	Missense_Mutation	SNP	A	TCGA-DU-A7T6-01A-11D-A33T-08	1332078	111109707	4060171	86	22442											
OR4N5	390437	broad.mit.edu	37	14	20612565	20612565	+	Missense_Mutation	SNP	G	G	A	rs143406902	by1000genomes	TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr14:20612565G>A	ENST00000333629.1	+	1	671	c.671G>A	c.(670-672)cGt>cAt	p.R224H		NM_001004724.1	NP_001004724.1	Q8IXE1	OR4N5_HUMAN	olfactory receptor, family 4, subfamily N, member 5	224					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1)	29	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.84e-06)	GBM - Glioblastoma multiforme(265;0.0143)		ATCCTCTGTCGTATAAGGGAG	0.483													43	226					0	0	1	0	0	A	20612565	G	A	20612565	3	1	146	1	0	0	0	0	1	0	0	0	11127	1145	40	1	673	1	OR4N5	14	20612565	Missense_Mutation	SNP	G	TCGA-DU-A7T6-01A-11D-A33T-08		20612565	86736975	87	22443											
CTSG	1511	broad.mit.edu	37	14	25043978	25043978	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr14:25043978C>G	ENST00000216336.2	-	3	278	c.242G>C	c.(241-243)aGa>aCa	p.R81T		NM_001911.2	NP_001902.1	P08311	CATG_HUMAN	cathepsin G	81	Peptidase S1.				immune response|proteolysis	cell surface|extracellular space|plasma membrane|stored secretory granule	heparin binding|serine-type endopeptidase activity			autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(265;0.0269)		GTTTTCCCGTCTCTGGATATT	0.527													22	126					0	0	1	0	0	G	25043978	C	G	25043978	3	3	146	1	0	0	0	0	1	0	0	0	4059	913	32	4	537	4	CTSG	14	25043978	Missense_Mutation	SNP	C	TCGA-DU-A7T6-01A-11D-A33T-08	4431413	25043978	82305562	88	22444											
SEL1L	6400	broad.mit.edu	37	14	81950595	81950595	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr14:81950595G>A	ENST00000336735.4	-	19	2136	c.2020C>T	c.(2020-2022)Cat>Tat	p.H674Y		NM_005065.5	NP_005056.3	Q9UBV2	SE1L1_HUMAN	sel-1 suppressor of lin-12-like (C. elegans)	674	Interaction with ERLEC1, OS9 and SYVN1.				Notch signaling pathway	endoplasmic reticulum membrane|integral to membrane	protein binding			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3)	28				BRCA - Breast invasive adenocarcinoma(234;0.0299)		CCTTTCTCATGCATATATCCC	0.393													6	704					0	0	1	0	0	A	81950595	G	A	81950595	3	1	146	1	0	0	0	0	1	0	0	0	14064	1319	46	2	376	2	SEL1L	14	81950595	Missense_Mutation	SNP	G	TCGA-DU-A7T6-01A-11D-A33T-08	56906617	81950595	25398945	89	22445											
SERPINA1	5265	broad.mit.edu	37	14	94849110	94849110	+	Silent	SNP	C	C	T			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr14:94849110C>T	ENST00000448921.1	-	4	1037	c.465G>A	c.(463-465)ttG>ttA	p.L155L	SERPINA1_ENST00000402629.1_Silent_p.L155L|SERPINA1_ENST00000449399.3_Silent_p.L155L|SERPINA1_ENST00000393087.4_Silent_p.L155L|SERPINA1_ENST00000437397.1_Silent_p.L155L|SERPINA1_ENST00000404814.4_Silent_p.L155L|SERPINA1_ENST00000393088.4_Silent_p.L155L|SERPINA1_ENST00000440909.1_Silent_p.L155L|SERPINA1_ENST00000355814.4_Silent_p.L155L	NM_001002236.2|NM_001127701.1|NM_001127703.1|NM_001127704.1|NM_001127705.1	NP_001002236.1|NP_001121173.1|NP_001121175.1|NP_001121176.1|NP_001121177.1	P01009	A1AT_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1	155					acute-phase response|platelet activation|platelet degranulation|regulation of proteolysis	extracellular space|platelet alpha granule lumen|proteinaceous extracellular matrix	protease binding|serine-type endopeptidase inhibitor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|skin(6)|stomach(1)	24		all_cancers(154;0.0649)|all_epithelial(191;0.223)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)	Alpha-1-proteinase inhibitor(DB00058)	TAACATCCTCCAAAAACTTAT	0.522													40	92					0	0	1	0	0	T	94849110	C	T	94849110	2	4	146	1	0	0	0	0	0	0	0	1	14140	593	21	2		2	SERPINA1	14	94849110	Silent	SNP	C	TCGA-DU-A7T6-01A-11D-A33T-08	12898515	94849110	12500430	90	22446											
CRIP2	1397	broad.mit.edu	37	14	105945517	105945517	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr14:105945517G>C	ENST00000329146.4	+	6	1175	c.462G>C	c.(460-462)gaG>gaC	p.E154D	CRIP2_ENST00000548989.1_3'UTR|CRIP2_ENST00000483017.3_Missense_Mutation_p.E228D	NM_001312.3	NP_001303.1	P52943	CRIP2_HUMAN	cysteine-rich protein 2	154	LIM zinc-binding 2.						zinc ion binding			lung(2)	2		Melanoma(154;0.226)	OV - Ovarian serous cystadenocarcinoma(23;0.00897)|Epithelial(46;0.026)	Epithelial(152;0.235)		TGCGCTGCGAGCGCTGCGGGA	0.751													8	46					0	0	1	0	0	C	105945517	G	C	105945517	3	2	146	1	0	0	0	0	1	0	0	0	3898	962	34	4	484	4	CRIP2	14	105945517	Missense_Mutation	SNP	G	TCGA-DU-A7T6-01A-11D-A33T-08	11096407	105945517	1404023	91	22447											
RYR3	6263	broad.mit.edu	37	15	33955887	33955887	+	Silent	SNP	G	G	A			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr15:33955887G>A	ENST00000389232.4	+	36	5638	c.5568G>A	c.(5566-5568)gcG>gcA	p.A1856A	RYR3_ENST00000415757.3_Silent_p.A1856A	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1856	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		ACATGTCTGCGGCCCTGACTG	0.552													13	11					0	0	1	0	0	A	33955887	G	A	33955887	2	1	146	1	0	0	0	0	0	0	0	1	13822	1103	39	1		1	RYR3	15	33955887	Silent	SNP	G	TCGA-DU-A7T6-01A-11D-A33T-08		33955887	68575505	92	22448											
RFX7	64864	broad.mit.edu	37	15	56395801	56395801	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr15:56395801C>G	ENST00000423270.1	-	5	468	c.469G>C	c.(469-471)Gtc>Ctc	p.V157L	RFX7_ENST00000559447.2_Missense_Mutation_p.V60L|RFX7_ENST00000317318.6_Missense_Mutation_p.V157L|RFX7_ENST00000422057.1_Missense_Mutation_p.V60L	NM_022841.5	NP_073752.5	Q2KHR2	RFX7_HUMAN	regulatory factor X, 7	60					regulation of transcription, DNA-dependent	nucleus	DNA binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						TTTGGAAAGACGTTTTTCATG	0.393													7	15					0	0	1	0	0	G	56395801	C	G	56395801	3	3	146	1	0	0	0	0	1	0	0	0	13320	536	19	5	3933	5	RFX7	15	56395801	Missense_Mutation	SNP	C	TCGA-DU-A7T6-01A-11D-A33T-08	22439914	56395801	46135591	93	22449											
IGF1R	3480	broad.mit.edu	37	15	99500523	99500523	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr15:99500523G>C	ENST00000268035.6	+	21	4567	c.3956G>C	c.(3955-3957)aGa>aCa	p.R1319T	RP11-654A16.3_ENST00000559468.1_RNA|IGF1R_ENST00000558762.1_Missense_Mutation_p.R1318T	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	1319					anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)	CTGCCCGACAGACACTCAGGA	0.687													6	35					0	0	1	0	0	C	99500523	G	C	99500523	3	2	146	1	0	0	0	0	1	0	0	0	7615	942	33	4	4038	4	IGF1R	15	99500523	Missense_Mutation	SNP	G	TCGA-DU-A7T6-01A-11D-A33T-08	43104722	99500523	3030869	94	22450											
PKD1	5310	broad.mit.edu	37	16	2159762	2159762	+	Silent	SNP	C	C	G			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr16:2159762C>G	ENST00000262304.4	-	15	5614	c.5406G>C	c.(5404-5406)gtG>gtC	p.V1802V	PKD1_ENST00000423118.1_Silent_p.V1802V	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	1802	PKD 13.				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						TGAGGCCACTCACAGGCACCT	0.667													9	20					0	0	1	0	0	G	2159762	C	G	2159762	2	3	146	1	0	0	0	0	0	0	0	1	12011	813	29	5		5	PKD1	16	2159762	Silent	SNP	C	TCGA-DU-A7T6-01A-11D-A33T-08		2159762	88194991	95	22451											
UBFD1	56061	broad.mit.edu	37	16	23569512	23569512	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr16:23569512G>C	ENST00000395878.3	+	2	648	c.267G>C	c.(265-267)aaG>aaC	p.K89N	UBFD1_ENST00000567264.1_Missense_Mutation_p.K89N|UBFD1_ENST00000571064.1_3'UTR|UBFD1_ENST00000219638.4_Missense_Mutation_p.K313N|UBFD1_ENST00000567212.1_Missense_Mutation_p.K80N	NM_019116.2	NP_061989.2	O14562	UBFD1_HUMAN	ubiquitin family domain containing 1	89	Ubiquitin-like.									endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7				GBM - Glioblastoma multiforme(48;0.0331)		TGGACTTGAAGATCATCTGGA	0.637													12	71					0	0	1	0	0	C	23569512	G	C	23569512	3	2	146	1	0	0	0	0	1	0	0	0	16945	933	33	4	273	4	UBFD1	16	23569512	Missense_Mutation	SNP	G	TCGA-DU-A7T6-01A-11D-A33T-08	21409750	23569512	66785241	96	22452											
IL4R	3566	broad.mit.edu	37	16	27374364	27374364	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr16:27374364C>A	ENST00000395762.2	+	11	1950	c.1691C>A	c.(1690-1692)gCt>gAt	p.A564D	IL4R_ENST00000543915.2_Missense_Mutation_p.A564D|IL4R_ENST00000170630.2_Missense_Mutation_p.A564D|IL4R_ENST00000380922.3_Missense_Mutation_p.A549D	NM_000418.3	NP_000409.1	P24394	IL4RA_HUMAN	interleukin 4 receptor	564	Poly-Ala.|Required for IL4-induced gene expression.				immune response|production of molecular mediator involved in inflammatory response	integral to plasma membrane	identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						CATGGGGCAGCTGCAGCCCCC	0.657													17	51					7.07596e-05	7.21291e-05	1	1	0	A	27374364	C	A	27374364	3	1	146	1	0	0	0	0	1	0	0	0	7742	797	28	4	1743	4	IL4R	16	27374364	Missense_Mutation	SNP	C	TCGA-DU-A7T6-01A-11D-A33T-08	3804852	27374364	62980389	97	22453											
SIAH1	6477	broad.mit.edu	37	16	48399314	48399314	+	Silent	SNP	C	C	T			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr16:48399314C>T	ENST00000356721.3	-	1	498	c.75G>A	c.(73-75)agG>agA	p.R25R	SIAH1_ENST00000573005.1_5'UTR|SIAH1_ENST00000394725.2_Intron	NM_001006610.1	NP_001006611.1	Q8IUQ4	SIAH1_HUMAN	siah E3 ubiquitin protein ligase 1	0					axon guidance|cell cycle|neuron apoptosis|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|spermatogenesis	beta-catenin destruction complex|cytosol|nucleus	protein C-terminus binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|stomach(1)	7		all_cancers(37;0.157)|all_lung(18;0.11)|Breast(268;0.238)				TCTTCCTTGTCCTGGCCGCTG	0.498													5	41					0	0	1	0	0	T	48399314	C	T	48399314	2	4	146	1	0	0	0	0	0	0	0	1	14354	854	30	2		2	SIAH1	16	48399314	Silent	SNP	C	TCGA-DU-A7T6-01A-11D-A33T-08	21024950	48399314	41955439	98	22454											
CDH8	1006	broad.mit.edu	37	16	61687749	61687749	+	Silent	SNP	G	G	T			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr16:61687749G>T	ENST00000577390.1	-	12	3117	c.2163C>A	c.(2161-2163)gtC>gtA	p.V721V	CDH8_ENST00000299345.6_Intron|CDH8_ENST00000577730.1_Intron	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	721					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.V721V(1)		biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		TAAATTCATCGACATCAACAC	0.443													29	149					1.08312e-15	1.13333e-15	1	1	0	T	61687749	G	T	61687749	2	4	146	1	0	0	0	0	0	0	0	1	3138	1045	37	5		5	CDH8	16	61687749	Silent	SNP	G	TCGA-DU-A7T6-01A-11D-A33T-08	13288435	61687749	28667004	99	22455											
LRRC36	55282	broad.mit.edu	37	16	67401214	67401214	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr16:67401214G>A	ENST00000329956.6	+	8	1068	c.1049G>A	c.(1048-1050)aGg>aAg	p.R350K	LRRC36_ENST00000541146.1_Intron|LRRC36_ENST00000290940.7_Missense_Mutation_p.R82K|LRRC36_ENST00000435835.3_Missense_Mutation_p.R229K|LRRC36_ENST00000563189.1_Missense_Mutation_p.R229K	NM_018296.5	NP_060766.5	Q1X8D7	LRC36_HUMAN	leucine rich repeat containing 36	350										endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	24		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0669)|Epithelial(162;0.161)		CTTGGTAAAAGGCCTCAGAGA	0.408													15	356					0	0	1	0	0	A	67401214	G	A	67401214	3	1	146	1	0	0	0	0	1	0	0	0	9035	1000	35	2	1107	2	LRRC36	16	67401214	Missense_Mutation	SNP	G	TCGA-DU-A7T6-01A-11D-A33T-08	5713465	67401214	22953539	100	22456											
CLEC18A	348174	broad.mit.edu	37	16	69988452	69988452	+	Silent	SNP	C	C	T			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr16:69988452C>T	ENST00000288040.6	+	3	619	c.432C>T	c.(430-432)aaC>aaT	p.N144N	CLEC18A_ENST00000393701.2_Silent_p.N144N|CLEC18A_ENST00000568461.1_Silent_p.N144N|CLEC18A_ENST00000449317.2_Silent_p.N144N	NM_001136214.2	NP_001129686.1	A5D8T8	CL18A_HUMAN	C-type lectin domain family 18, member A	144	SCP.					extracellular region	sugar binding			NS(1)|endometrium(2)|lung(1)|skin(1)	5						GTGCTCGCAACGCCACCTGCA	0.612													8	37					0	0	1	0	0	T	69988452	C	T	69988452	2	4	146	1	0	0	0	0	0	0	0	1	3525	535	19	1		1	CLEC18A	16	69988452	Silent	SNP	C	TCGA-DU-A7T6-01A-11D-A33T-08	2587238	69988452	20366301	101	22457											
ST3GAL2	6483	broad.mit.edu	37	16	70432112	70432112	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr16:70432112C>A	ENST00000393640.4	-	1	2429	c.322G>T	c.(322-324)Gtc>Ttc	p.V108F	RP11-529K1.4_ENST00000566960.1_RNA|ST3GAL2_ENST00000342907.2_Missense_Mutation_p.V108F			Q16842	SIA4B_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 2	108					amino sugar metabolic process	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,3-sialyltransferase activity			breast(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)	11		Ovarian(137;0.0694)				CACCTCTGGACGTCCGGTGGA	0.592													6	77					2.7689e-08	2.85938e-08	1	1	0	A	70432112	C	A	70432112	3	1	146	1	0	0	0	0	1	0	0	0	15271	536	19	5	754	5	ST3GAL2	16	70432112	Missense_Mutation	SNP	C	TCGA-DU-A7T6-01A-11D-A33T-08	443660	70432112	19922641	102	22458											
DNAH9	1770	broad.mit.edu	37	17	11607666	11607666	+	Silent	SNP	C	C	T			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr17:11607666C>T	ENST00000262442.4	+	25	5366	c.5298C>T	c.(5296-5298)ggC>ggT	p.G1766G	DNAH9_ENST00000454412.2_Silent_p.G1766G	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9		Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TGCTGATTGGCCAGCTCTCCA	0.512													6	115					0	0	1	0	0	T	11607666	C	T	11607666	2	4	146	1	0	0	0	0	0	0	0	1	4635	726	26	2		2	DNAH9	17	11607666	Silent	SNP	C	TCGA-DU-A7T6-01A-11D-A33T-08		11607666	69587544	103	22459											
MYO15A	51168	broad.mit.edu	37	17	18055210	18055210	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr17:18055210delC	ENST00000205890.5	+	41	8176	c.7838delC	c.(7837-7839)gccfs	p.A2613fs		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	2613	Tail.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					CATGAGGAGGCCCTGATGATC	0.597													2	4	---	---	---	---						-	18055210	C	-	18055210	7	5	146	1	0	1	0	1	0	0	0	0	10111	739	26	0	7992	0	MYO15A	17	18055210	Frame_Shift_Del	DEL	C	TCGA-DU-A7T6-01A-11D-A33T-08	6447544	18055210	63140000	104	22460											
KRT36	8689	broad.mit.edu	37	17	39646040	39646040	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr17:39646040G>C	ENST00000328119.6	-	1	76	c.77C>G	c.(76-78)tCt>tGt	p.S26C	KRT36_ENST00000393986.2_Intron	NM_003771.4	NP_003762.1	O76013	KRT36_HUMAN	keratin 36	26	Head.					intermediate filament	protein binding|structural constituent of epidermis			breast(2)|cervix(1)|kidney(2)|large_intestine(3)|lung(8)|skin(1)	17		Breast(137;0.000286)				GGACACCCGAGAGATGCCGCC	0.627													12	85					0	0	1	0	0	C	39646040	G	C	39646040	3	2	146	1	0	0	0	0	1	0	0	0	8516	942	33	4	1354	4	KRT36	17	39646040	Missense_Mutation	SNP	G	TCGA-DU-A7T6-01A-11D-A33T-08	21590830	39646040	41549170	105	22461											
C17orf53	78995	broad.mit.edu	37	17	42225301	42225301	+	Missense_Mutation	SNP	C	C	T	rs147787171	byFrequency	TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr17:42225301C>T	ENST00000319977.4	+	3	367	c.130C>T	c.(130-132)Cct>Tct	p.P44S	C17orf53_ENST00000585683.1_Missense_Mutation_p.P44S|C17orf53_ENST00000245382.6_Missense_Mutation_p.P44S	NM_001171251.1|NM_024032.3	NP_001164722.1|NP_076937.2	Q8N3J3	CQ053_HUMAN	chromosome 17 open reading frame 53	44										NS(1)|breast(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	22		Breast(137;0.0364)|Prostate(33;0.0376)		BRCA - Breast invasive adenocarcinoma(366;0.114)		GCGCCTGAGACCTGTCTCTTC	0.567													43	98					0	0	1	0	0	T	42225301	C	T	42225301	3	4	146	1	0	0	0	0	1	0	0	0	1871	507	18	2	140	2	C17orf53	17	42225301	Missense_Mutation	SNP	C	TCGA-DU-A7T6-01A-11D-A33T-08	2579261	42225301	38969909	106	22462											
NPEPPS	9520	broad.mit.edu	37	17	45668227	45668227	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr17:45668227G>A	ENST00000322157.4	+	10	1477	c.1240G>A	c.(1240-1242)Gat>Aat	p.D414N	NPEPPS_ENST00000525037.1_3'UTR|NPEPPS_ENST00000544660.1_Missense_Mutation_p.D334N|NPEPPS_ENST00000530173.1_Missense_Mutation_p.D410N	NM_006310.3	NP_006301.3	P55786	PSA_HUMAN	aminopeptidase puromycin sensitive	414					proteolysis	cytosol|nucleus	aminopeptidase activity|metallopeptidase activity|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	27						TGACGCCTTAGATAACAGCCA	0.403													24	233					0	0	1	0	0	A	45668227	G	A	45668227	3	1	146	1	0	0	0	0	1	0	0	0	10622	942	33	2	1278	2	NPEPPS	17	45668227	Missense_Mutation	SNP	G	TCGA-DU-A7T6-01A-11D-A33T-08	3442926	45668227	35526983	107	22463											
MED13	9969	broad.mit.edu	37	17	60140431	60140431	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr17:60140431A>G	ENST00000397786.2	-	2	374	c.298T>C	c.(298-300)Tca>Cca	p.S100P		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	100					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						CTTTCACCTGATAAGTCATGG	0.383													8	139					0	0	1	0	0	G	60140431	A	G	60140431	3	3	146	1	0	0	0	0	1	0	0	0	9480	333	12	3	6342	3	MED13	17	60140431	Missense_Mutation	SNP	A	TCGA-DU-A7T6-01A-11D-A33T-08	14472204	60140431	21054779	108	22464											
TANC2	26115	broad.mit.edu	37	17	61483525	61483525	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr17:61483525delT	ENST00000424789.2	+	19	3258	c.3254delT	c.(3253-3255)cttfs	p.L1087fs	AC015923.1_ENST00000431604.1_RNA|RP11-269G24.3_ENST00000583552.1_RNA|TANC2_ENST00000389520.4_Frame_Shift_Del_p.L1087fs	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	1087							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						ATTGTTGATCTTTTACTCACC	0.502											OREG0024637	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	36	67	---	---	---	---						-	61483525	T	-	61483525	7	5	146	1	0	1	0	1	0	0	0	0	15602	1609	56	0	3328	0	TANC2	17	61483525	Frame_Shift_Del	DEL	T	TCGA-DU-A7T6-01A-11D-A33T-08	1343094	61483525	19711685	109	22465											
BAHCC1	57597	broad.mit.edu	37	17	79428112	79428116	+	Frame_Shift_Del	DEL	GCACA	GCACA	-			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr17:79428112_79428116delGCACA	ENST00000307745.7	+	30	6423_6427	c.6423_6427delGCACA	c.(6421-6429)gtgcacagcfs	p.HS2142fs	RP11-1055B8.8_ENST00000572590.1_RNA																							TGTTCCCCGTGCACAGCGTGGCCAC	0.707													12	20	---	---	---	---						-	79428116	GCACA	-	79428112	7	5	146	1	0	1	0	1	0	0	0	0	1294	1306	46	0	6356	0	BAHCC1	17	79428112	Frame_Shift_Del	DEL	GCACA	TCGA-DU-A7T6-01A-11D-A33T-08	17944587	79428112	1767098	110	22466											
ZNF407	55628	broad.mit.edu	37	18	72775721	72775721	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr18:72775721G>C	ENST00000299687.5	+	8	6044	c.6044G>C	c.(6043-6045)gGc>gCc	p.G2015A		NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	2015					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		GGCAGGCCCGGCGCCAAAGAC	0.677													6	31					0	0	1	0	0	C	72775721	G	C	72775721	3	2	146	1	0	0	0	0	1	0	0	0	17944	1203	42	5	6204	5	ZNF407	18	72775721	Missense_Mutation	SNP	G	TCGA-DU-A7T6-01A-11D-A33T-08		72775721	5301527	111	22467											
S1PR4	8698	broad.mit.edu	37	19	3179151	3179151	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr19:3179151C>T	ENST00000246115.3	+	1	416	c.361C>T	c.(361-363)Cgg>Tgg	p.R121W	S1PR4_ENST00000591346.1_Intron	NM_003775.3	NP_003766.1	O95977	S1PR4_HUMAN	sphingosine-1-phosphate receptor 4	121					activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|immune response	integral to plasma membrane	lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity			breast(1)|kidney(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	13						GTGGTTCCTACGGGAGGGCCT	0.701													24	95					0	0	1	0	0	T	3179151	C	T	3179151	3	4	146	1	0	0	0	0	1	0	0	0	13848	527	19	1	363	1	S1PR4	19	3179151	Missense_Mutation	SNP	C	TCGA-DU-A7T6-01A-11D-A33T-08		3179151	55949832	112	22468											
TNFSF14	8740	broad.mit.edu	37	19	6664977	6664977	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr19:6664977C>T	ENST00000326176.9	-	5	956	c.575G>A	c.(574-576)cGt>cAt	p.R192H	TNFSF14_ENST00000599359.1_Missense_Mutation_p.R228H|TNFSF14_ENST00000245912.3_Missense_Mutation_p.R192H	NM_003807.3|NM_172014.2	NP_003798.2|NP_742011.2	O43557	TNF14_HUMAN	tumor necrosis factor (ligand) superfamily, member 14	228					cellular response to mechanical stimulus|immune response|induction of apoptosis|release of cytoplasmic sequestered NF-kappaB|T cell homeostasis|T cell proliferation	cytoplasm|extracellular space|integral to membrane|plasma membrane	caspase inhibitor activity|cytokine activity|tumor necrosis factor receptor binding			breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18						GGTACCATCACGCAGTCGAAC	0.602													40	125					0	0	1	0	0	T	6664977	C	T	6664977	3	4	146	1	0	0	0	0	1	0	0	0	16367	536	19	1	43	1	TNFSF14	19	6664977	Missense_Mutation	SNP	C	TCGA-DU-A7T6-01A-11D-A33T-08	3485826	6664977	52464006	113	22469											
MUC16	94025	broad.mit.edu	37	19	9089401	9089401	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr19:9089401C>G	ENST00000397910.4	-	1	2617	c.2414G>C	c.(2413-2415)aGt>aCt	p.S805T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	805	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGTGAGGACACTCCCTGCTGT	0.512													93	184					0	0	1	0	0	G	9089401	C	G	9089401	3	3	146	1	0	0	0	0	1	0	0	0	10021	565	20	4	41445	4	MUC16	19	9089401	Missense_Mutation	SNP	C	TCGA-DU-A7T6-01A-11D-A33T-08	2424424	9089401	50039582	114	22470											
ZNF823	55552	broad.mit.edu	37	19	11833735	11833735	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr19:11833735C>G	ENST00000341191.6	-	4	767	c.614G>C	c.(613-615)aGt>aCt	p.S205T	ZNF823_ENST00000545749.1_Missense_Mutation_p.S23T	NM_001080493.2	NP_001073962.1	P16415	ZN823_HUMAN	zinc finger protein 823	205					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)	26						ATGAAATAAACTGGGCCAAAC	0.418										HNSCC(68;0.2)			34	187					0	0	1	0	0	G	11833735	C	G	11833735	3	3	146	1	0	0	0	0	1	0	0	0	18226	565	20	4	1222	4	ZNF823	19	11833735	Missense_Mutation	SNP	C	TCGA-DU-A7T6-01A-11D-A33T-08	2744334	11833735	47295248	115	22471											
CIC	23152	broad.mit.edu	37	19	42794734	42794735	+	Frame_Shift_Del	DEL	GT	GT	-			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr19:42794734_42794735delGT	ENST00000572681.2	+	11	4609_4610	c.4541_4542delGT	c.(4540-4542)agtfs	p.S1514fs	CIC_ENST00000160740.3_Frame_Shift_Del_p.S605fs|CIC_ENST00000575354.2_Frame_Shift_Del_p.S605fs			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	605					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	p.V606fs*83(1)		autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				AGACCCGAAAGTGTGGGTGGCC	0.673			"Mis, F, S"		oligodendroglioma								65	55	---	---	---	---						-	42794735	GT	-	42794734	7	5	146	1	0	1	0	1	0	0	0	0	3446	1029	36	0	1852	0	CIC	19	42794734	Frame_Shift_Del	DEL	GT	TCGA-DU-A7T6-01A-11D-A33T-08	30960999	42794734	16334249	116	22472											
CEACAM19	56971	broad.mit.edu	37	19	45176219	45176219	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr19:45176219C>T	ENST00000358777.4	+	2	887	c.407C>T	c.(406-408)aCt>aTt	p.T136I	CEACAM19_ENST00000480278.1_3'UTR|CTB-171A8.1_ENST00000590796.1_RNA|CEACAM19_ENST00000403660.3_Missense_Mutation_p.T136I	NM_001127893.1|NM_020219.3	NP_001121365.1|NP_064604.2	Q7Z692	CEA19_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 19	136						integral to membrane				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)	11	Lung NSC(12;0.00308)|all_lung(12;0.00806)	Prostate(69;0.0376)				AAGGCCAAGACTGAGGTCCAG	0.552													40	32					0	0	1	0	0	T	45176219	C	T	45176219	3	4	146	1	0	0	0	0	1	0	0	0	3212	565	20	2	413	2	CEACAM19	19	45176219	Missense_Mutation	SNP	C	TCGA-DU-A7T6-01A-11D-A33T-08	2381485	45176219	13952764	117	22473											
LENG8	114823	broad.mit.edu	37	19	54963363	54963363	+	Silent	SNP	G	G	A			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr19:54963363G>A	ENST00000326764.5	+	3	611	c.132G>A	c.(130-132)caG>caA	p.Q44Q	LENG8_ENST00000376514.2_Intron	NM_052925.2	NP_443157.1	Q96PV6	LENG8_HUMAN	leukocyte receptor cluster (LRC) member 8	44							protein binding			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.139)		AGGCCCGTCAGGCCCTGGCCA	0.642													6	57					0	0	1	0	0	A	54963363	G	A	54963363	2	1	146	1	0	0	0	0	0	0	0	1	8763	991	35	2		2	LENG8	19	54963363	Silent	SNP	G	TCGA-DU-A7T6-01A-11D-A33T-08	9787144	54963363	4165620	118	22474											
LILRA1	11024	broad.mit.edu	37	19	55106741	55106741	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr19:55106741C>T	ENST00000453777.1	+	5	705	c.535C>T	c.(535-537)Cgg>Tgg	p.R179W	LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000448689.1_Intron|LILRA1_ENST00000251372.3_Missense_Mutation_p.R179W|LILRA1_ENST00000473156.1_3'UTR|LILRB1_ENST00000396321.2_Intron	NM_001278318.1	NP_001265247.1	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1	179	Ig-like C2-type 2.				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		TGGGTGGTCCCGGGCCATCTT	0.567													4	170					0	0	1	0	0	T	55106741	C	T	55106741	3	4	146	1	0	0	0	0	1	0	0	0	8824	643	23	1	549	1	LILRA1	19	55106741	Missense_Mutation	SNP	C	TCGA-DU-A7T6-01A-11D-A33T-08	143378	55106741	4022242	119	22475											
NLRP13	126204	broad.mit.edu	37	19	56443629	56443629	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr19:56443629G>A	ENST00000588751.1	-	1	73	c.49C>T	c.(49-51)Ctt>Ttt	p.L17F	NLRP13_ENST00000342929.3_Missense_Mutation_p.L17F			Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	17	DAPIN.						ATP binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		TAAGGCAGAAGCCCTTGGTTG	0.527													34	74					0	0	1	0	0	A	56443629	G	A	56443629	3	1	146	1	0	0	0	0	1	0	0	0	10522	971	34	2	3124	2	NLRP13	19	56443629	Missense_Mutation	SNP	G	TCGA-DU-A7T6-01A-11D-A33T-08	1336888	56443629	2685354	120	22476											
CASS4	57091	broad.mit.edu	37	20	55027547	55027547	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr20:55027547G>A	ENST00000371336.3	+	5	1516	c.1315G>A	c.(1315-1317)Gtg>Atg	p.V439M	CASS4_ENST00000360314.3_Missense_Mutation_p.V439M|CASS4_ENST00000434344.1_Intron	NM_001164114.1|NM_020356.3	NP_001157586.1|NP_065089.2	Q9NQ75	CASS4_HUMAN	Cas scaffolding protein family member 4	439					cell adhesion	cytoplasm|cytoskeleton|focal adhesion	two-component sensor activity	p.V439M(1)		breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	54						GGACCTGGATGTGGCCAAGGA	0.567													26	23					0	0	1	0	0	A	55027547	G	A	55027547	3	1	146	1	0	0	0	0	1	0	0	0	2701	1377	48	2	1333	2	CASS4	20	55027547	Missense_Mutation	SNP	G	TCGA-DU-A7T6-01A-11D-A33T-08		55027547	7997973	121	22477											
TIAM1	7074	broad.mit.edu	37	21	32493110	32493110	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr21:32493110G>A	ENST00000286827.3	-	29	4823	c.4352C>T	c.(4351-4353)gCt>gTt	p.A1451V	TIAM1_ENST00000541036.1_Missense_Mutation_p.A1391V	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	1451					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity	p.A1451G(2)		autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						CCTGTTTCGAGCCAGCCGCCG	0.547													14	63					0	0	1	0	0	A	32493110	G	A	32493110	3	1	146	1	0	0	0	0	1	0	0	0	15950	971	34	2	427	2	TIAM1	21	32493110	Missense_Mutation	SNP	G	TCGA-DU-A7T6-01A-11D-A33T-08		32493110	15636785	122	22478											
KRTAP10-2	386679	broad.mit.edu	37	21	45971301	45971301	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr21:45971301G>C	ENST00000391621.1	-	1	87	c.41C>G	c.(40-42)aCc>aGc	p.T14S	KRTAP10-2_ENST00000498210.1_5'UTR|TSPEAR_ENST00000323084.4_Intron|TSPEAR_ENST00000397916.1_Intron	NM_198693.2	NP_941966.1	P60368	KR102_HUMAN	keratin associated protein 10-2	14						keratin filament				large_intestine(1)|lung(4)|skin(1)	6						CCAGGAGTTGGTGCAGGCGCT	0.667													19	138					0	0	1	0	0	C	45971301	G	C	45971301	3	2	146	1	0	0	0	0	1	0	0	0	8552	1261	44	5	730	5	KRTAP10-2	21	45971301	Missense_Mutation	SNP	G	TCGA-DU-A7T6-01A-11D-A33T-08	13478191	45971301	2158594	123	22479											
BCR	613	broad.mit.edu	37	22	23613769	23613769	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr22:23613769C>G	ENST00000305877.8	+	6	2662	c.1911C>G	c.(1909-1911)aaC>aaG	p.N637K	BCR_ENST00000359540.3_Missense_Mutation_p.N637K	NM_004327.3	NP_004318.3	P11274	BCR_HUMAN	breakpoint cluster region	637	DH.				regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	ATP binding|GTPase activator activity|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity		BCR/JAK2(6)	central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	35						CGACCAAGAACTCTCTGGAAA	0.532			T	"ABL1,  FGFR1, JAK2 "	"CML, ALL, AML"								13	59					0	0	1	0	0	G	23613769	C	G	23613769	3	3	146	1	0	0	0	0	1	0	0	0	1386	564	20	4	1933	4	BCR	22	23613769	Missense_Mutation	SNP	C	TCGA-DU-A7T6-01A-11D-A33T-08		23613769	27690797	124	22480											
UQCR10	29796	broad.mit.edu	37	22	30163518	30163518	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr22:30163518A>G	ENST00000330029.6	+	1	161	c.131A>G	c.(130-132)tAc>tGc	p.Y44C	UQCR10_ENST00000401406.3_Missense_Mutation_p.Y44C	NM_001003684.1|NM_013387.3	NP_001003684.1|NP_037519.2	Q9UDW1	QCR9_HUMAN	ubiquinol-cytochrome c reductase, complex III subunit X	44					mitochondrial electron transport, ubiquinol to cytochrome c	mitochondrial inner membrane|respiratory chain	ubiquinol-cytochrome-c reductase activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)	5						GACGCTATCTACGACCACATC	0.607													11	60					0	0	1	0	0	G	30163518	A	G	30163518	3	3	146	1	0	0	0	0	1	0	0	0	17076	391	14	3	133	3	UQCR10	22	30163518	Missense_Mutation	SNP	A	TCGA-DU-A7T6-01A-11D-A33T-08	6549749	30163518	21141048	125	22481											
MTMR3	8897	broad.mit.edu	37	22	30421720	30421720	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr22:30421720G>C	ENST00000333027.3	+	20	3771	c.3443G>C	c.(3442-3444)aGc>aCc	p.S1148T	MTMR3_ENST00000406629.1_Missense_Mutation_p.S1148T|CTA-85E5.10_ENST00000453743.2_RNA|MTMR3_ENST00000323630.5_Missense_Mutation_p.S1040T|CTA-85E5.10_ENST00000429350.1_RNA|MTMR3_ENST00000351488.3_Missense_Mutation_p.S1139T|MTMR3_ENST00000401950.2_Missense_Mutation_p.S1176T	NM_153050.2|NM_153051.2	NP_694690.1|NP_694691.1	Q13615	MTMR3_HUMAN	myotubularin related protein 3	1176					phosphatidylinositol dephosphorylation	cytoplasm|membrane|membrane fraction|nucleus	metal ion binding|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity			breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)			TCTTGCTATAGCAGCCTACAT	0.512													29	125					0	0	1	0	0	C	30421720	G	C	30421720	3	2	146	1	0	0	0	0	1	0	0	0	9993	971	34	4	3628	4	MTMR3	22	30421720	Missense_Mutation	SNP	G	TCGA-DU-A7T6-01A-11D-A33T-08	258202	30421720	20882846	126	22482											
SREBF2	6721	broad.mit.edu	37	22	42280888	42280888	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr22:42280888C>T	ENST00000361204.4	+	11	2247	c.2081C>T	c.(2080-2082)gCg>gTg	p.A694V		NM_004599.2	NP_004590.2	Q12772	SRBP2_HUMAN	sterol regulatory element binding transcription factor 2	694					cholesterol metabolic process	ER to Golgi transport vesicle membrane|Golgi membrane|nucleus|SREBP-SCAP-Insig complex	protein C-terminus binding			NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						GTACACATGGCGTTGTGTGCC	0.547													4	89					0	0	1	0	0	T	42280888	C	T	42280888	3	4	146	1	0	0	0	0	1	0	0	0	15198	768	27	1	2123	1	SREBF2	22	42280888	Missense_Mutation	SNP	C	TCGA-DU-A7T6-01A-11D-A33T-08	11859168	42280888	9023678	127	22483											
VCX2	51480	broad.mit.edu	37	X	8138193	8138193	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chrX:8138193C>G	ENST00000317103.4	-	3	606	c.300G>C	c.(298-300)caG>caC	p.Q100H		NM_016378.2	NP_057462.2	Q9H322	VCX2_HUMAN	variable charge, X-linked 2	100										endometrium(1)	1		Colorectal(8;0.0136)|Medulloblastoma(8;0.184)				GGGGGTCGTGCTGGGTCCCCT	0.677													36	156					0	0	1	0	0	G	8138193	C	G	8138193	3	3	146	1	0	0	0	0	1	0	0	0	17203	796	28	4	123	4	VCX2	23	8138193	Missense_Mutation	SNP	C	TCGA-DU-A7T6-01A-11D-A33T-08		8138193	147132367	128	22484											
CXorf23	256643	broad.mit.edu	37	X	19953961	19953961	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chrX:19953961C>T	ENST00000379687.3	-	9	1862	c.1829G>A	c.(1828-1830)gGa>gAa	p.G610E	CXorf23_ENST00000356980.3_Intron|CXorf23_ENST00000379682.4_Missense_Mutation_p.G639E	NM_198279.3	NP_938020.2	A2AJT9	CX023_HUMAN	chromosome X open reading frame 23	639						mitochondrion				endometrium(2)|large_intestine(1)|lung(6)|skin(1)|urinary_tract(1)	11						TCGGTGGTTTCCCTCAACCTC	0.348													71	422					0	0	1	0	0	T	19953961	C	T	19953961	3	4	146	1	0	0	0	0	1	0	0	0	4126	855	30	2	231	2	CXorf23	23	19953961	Missense_Mutation	SNP	C	TCGA-DU-A7T6-01A-11D-A33T-08	11815768	19953961	135316599	129	22485											
DCAF8L1	139425	broad.mit.edu	37	X	27998066	27998066	+	Silent	SNP	G	G	C			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chrX:27998066G>C	ENST00000441525.1	-	1	1500	c.1386C>G	c.(1384-1386)gtC>gtG	p.V462V		NM_001017930.1	NP_001017930.1	A6NGE4	DC8L1_HUMAN	DDB1 and CUL4 associated factor 8-like 1	462										NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						CCCAGAAGAAGACGTGCCCAC	0.468													26	66					0	0	1	0	0	C	27998066	G	C	27998066	2	2	146	1	0	0	0	0	0	0	0	1	4301	929	33	4		4	DCAF8L1	23	27998066	Silent	SNP	G	TCGA-DU-A7T6-01A-11D-A33T-08	8044105	27998066	127272494	130	22486											
IL1RAPL1	11141	broad.mit.edu	37	X	29938151	29938151	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chrX:29938151T>C	ENST00000378993.1	+	8	1670	c.997T>C	c.(997-999)Tcc>Ccc	p.S333P	IL1RAPL1_ENST00000302196.4_Missense_Mutation_p.S333P	NM_014271.3	NP_055086.1	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	333	Ig-like C2-type 3.				innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity			biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						GGGAAATTACTCCTGTTATGT	0.423													58	128					0	0	1	0	0	C	29938151	T	C	29938151	3	2	146	1	0	0	0	0	1	0	0	0	7705	1551	54	3	1023	3	IL1RAPL1	23	29938151	Missense_Mutation	SNP	T	TCGA-DU-A7T6-01A-11D-A33T-08	1940085	29938151	125332409	131	22487											
DMD	1756	broad.mit.edu	37	X	31854865	31854865	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chrX:31854865G>C	ENST00000357033.4	-	49	7376	c.7170C>G	c.(7168-7170)taC>taG	p.Y2390*	DMD_ENST00000359836.1_5'UTR|DMD_ENST00000474231.1_5'UTR|DMD_ENST00000541735.1_5'UTR|DMD_ENST00000378707.3_5'UTR|DMD_ENST00000378677.2_Nonsense_Mutation_p.Y2386*|DMD_ENST00000343523.2_5'UTR	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	2390					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				GTTTTTCCTTGTACAAATGCT	0.428													84	150					0	0	1	0	0	C	31854865	G	C	31854865	4	2	146	1	0	0	0	0	0	1	0	0	4608	1372	48	5	4159	5	DMD	23	31854865	Nonsense_Mutation	SNP	G	TCGA-DU-A7T6-01A-11D-A33T-08	1916714	31854865	123415695	132	22488											
MAGEE1	57692	broad.mit.edu	37	X	75651163	75651163	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chrX:75651163G>T	ENST00000361470.2	+	1	3118	c.2840G>T	c.(2839-2841)gGg>gTg	p.G947V		NM_020932.2	NP_065983.1	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	947	Interaction with DTNA (By similarity).					dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						GCTGATGTTGGGCACAGGCAA	0.522													32	45					2.70662e-09	2.81346e-09	1	1	0	T	75651163	G	T	75651163	3	4	146	1	0	0	0	0	1	0	0	0	9235	1232	43	5	2842	5	MAGEE1	23	75651163	Missense_Mutation	SNP	G	TCGA-DU-A7T6-01A-11D-A33T-08	43796298	75651163	79619397	133	22489											
GPRASP1	9737	broad.mit.edu	37	X	101909040	101909040	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chrX:101909040G>T	ENST00000537097.1	+	6	1012	c.199G>T	c.(199-201)Gag>Tag	p.E67*	GPRASP1_ENST00000361600.5_Nonsense_Mutation_p.E67*|GPRASP1_ENST00000415986.1_Nonsense_Mutation_p.E67*|RP4-769N13.7_ENST00000602441.1_RNA|GPRASP1_ENST00000444152.1_Nonsense_Mutation_p.E67*	NM_001184727.1	NP_001171656.1	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting protein 1	67						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						CACCAAAGTTGAGACAAGTGC	0.542													8	320					0.000157383	0.000159401	1	1	0	T	101909040	G	T	101909040	4	4	146	1	0	0	0	0	0	1	0	0	6763	1291	45	5	201	5	GPRASP1	23	101909040	Nonsense_Mutation	SNP	G	TCGA-DU-A7T6-01A-11D-A33T-08	26257877	101909040	53361520	134	22490	112	2									
GPRASP1	9737	broad.mit.edu	37	X	101909041	101909041	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chrX:101909041A>G	ENST00000537097.1	+	6	1013	c.200A>G	c.(199-201)gAg>gGg	p.E67G	GPRASP1_ENST00000361600.5_Missense_Mutation_p.E67G|GPRASP1_ENST00000415986.1_Missense_Mutation_p.E67G|RP4-769N13.7_ENST00000602441.1_RNA|GPRASP1_ENST00000444152.1_Missense_Mutation_p.E67G	NM_001184727.1	NP_001171656.1	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting protein 1	67						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						ACCAAAGTTGAGACAAGTGCA	0.542													8	317					0	0	1	0	0	G	101909041	A	G	101909041	3	3	146	1	0	0	0	0	1	0	0	0	6763	304	11	3	202	3	GPRASP1	23	101909041	Missense_Mutation	SNP	A	TCGA-DU-A7T6-01A-11D-A33T-08	1	101909041	53361519	135	22491	112	2									
DCX	1641	broad.mit.edu	37	X	110644391	110644391	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chrX:110644391G>A	ENST00000338081.3	-	3	946	c.775C>T	c.(775-777)Cgc>Tgc	p.R259C	DCX_ENST00000371993.2_Missense_Mutation_p.R178C|DCX_ENST00000356915.2_Missense_Mutation_p.R178C|DCX_ENST00000488120.1_Missense_Mutation_p.R178C|DCX_ENST00000356220.3_Missense_Mutation_p.R178C|DCX_ENST00000496551.1_5'UTR	NM_000555.3	NP_000546.2	O43602	DCX_HUMAN	doublecortin	259			R -> C (in SBHX).|R -> L (in SBHX).		axon guidance|central nervous system development|intracellular signal transduction	cytosol|microtubule associated complex	microtubule binding	p.R178C(1)|p.R259C(1)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|skin(6)|upper_aerodigestive_tract(1)	41						AGCTTGGGGCGCACAAAGTCC	0.537													4	164					0	0	1	0	0	A	110644391	G	A	110644391	3	1	146	1	0	0	0	0	1	0	0	0	4341	1087	38	1	585	1	DCX	23	110644391	Missense_Mutation	SNP	G	TCGA-DU-A7T6-01A-11D-A33T-08	8735350	110644391	44626169	136	22492											
GRIA3	2892	broad.mit.edu	37	X	122551721	122551721	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chrX:122551721delT	ENST00000541091.1	+	11	1948	c.1921delT	c.(1921-1923)tttfs	p.F642fs	GRIA3_ENST00000542149.1_Intron|GRIA3_ENST00000371256.5_Intron|GRIA3_ENST00000264357.5_Intron|GRIA3_ENST00000371251.1_Intron			P42263	GRIA3_HUMAN	glutamate receptor, ionotropic, AMPA 3	0					glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					L-Glutamic Acid(DB00142)	CAACTCCAGATTTTTTTCATT	0.358													18	59	---	---	---	---						-	122551721	T	-	122551721	7	5	146	1	0	1	0	1	0	0	0	0	6810	1508	52	0		0	GRIA3	23	122551721	Frame_Shift_Del	DEL	T	TCGA-DU-A7T6-01A-11D-A33T-08	11907330	122551721	32718839	137	22493											
SMARCA1	6594	broad.mit.edu	37	X	128631957	128631957	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chrX:128631957G>C	ENST00000371122.4	-	11	1498	c.1369C>G	c.(1369-1371)Cga>Gga	p.R457G	SMARCA1_ENST00000371121.3_Missense_Mutation_p.R457G|SMARCA1_ENST00000371123.1_Missense_Mutation_p.R457G	NM_003069.3	NP_003060.2	P28370	SMCA1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1	457					ATP-dependent chromatin remodeling|brain development|neuron differentiation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	NURF complex	ATP binding|DNA binding|helicase activity|nucleosome binding|protein binding			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1)	45						CAACACTTTCGAAGCTGCATC	0.373													23	149					0	0	1	0	0	C	128631957	G	C	128631957	3	2	146	1	0	0	0	0	1	0	0	0	14822	1066	37	5	1851	5	SMARCA1	23	128631957	Missense_Mutation	SNP	G	TCGA-DU-A7T6-01A-11D-A33T-08	6080236	128631957	26638603	138	22494											
AIFM1	9131	broad.mit.edu	37	X	129290463	129290463	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chrX:129290463C>G	ENST00000287295.3	-	2	451	c.221G>C	c.(220-222)gGc>gCc	p.G74A	AIFM1_ENST00000535724.1_Intron|AIFM1_ENST00000346424.2_Intron|AIFM1_ENST00000319908.3_Intron	NM_001130847.3|NM_004208.3	NP_001124319.1|NP_004199.1	O95831	AIFM1_HUMAN	apoptosis-inducing factor, mitochondrion-associated, 1	74					activation of caspase activity|apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change	cytosol|mitochondrial inner membrane|mitochondrial intermembrane space|nucleus|perinuclear region of cytoplasm	DNA binding|electron carrier activity|flavin adenine dinucleotide binding|oxidoreductase activity|protein binding			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(4)|prostate(2)|urinary_tract(1)	30						TGTTGATAAGCCCACAATAAG	0.443													42	335					0	0	1	0	0	G	129290463	C	G	129290463	3	3	146	1	0	0	0	0	1	0	0	0	423	739	26	5	1827	5	AIFM1	23	129290463	Missense_Mutation	SNP	C	TCGA-DU-A7T6-01A-11D-A33T-08	658506	129290463	25980097	139	22495											
GPR112	139378	broad.mit.edu	37	X	135439900	135439900	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chrX:135439900C>T	ENST00000394143.1	+	10	7256	c.6965C>T	c.(6964-6966)tCc>tTc	p.S2322F	GPR112_ENST00000412101.1_Missense_Mutation_p.S2117F|GPR112_ENST00000287534.4_Intron|GPR112_ENST00000370652.1_Missense_Mutation_p.S2322F|GPR112_ENST00000394141.1_Missense_Mutation_p.S2117F	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	2322					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					GCTACAATTTCCTATGTACCA	0.363													5	397					0	0	1	0	0	T	135439900	C	T	135439900	3	4	146	1	0	0	0	0	1	0	0	0	6669	855	30	2	6991	2	GPR112	23	135439900	Missense_Mutation	SNP	C	TCGA-DU-A7T6-01A-11D-A33T-08	6149437	135439900	19830660	140	22496											
ATP2B3	492	broad.mit.edu	37	X	152826216	152826216	+	Silent	SNP	C	C	T			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chrX:152826216C>T	ENST00000370186.1	+	17	3206	c.2880C>T	c.(2878-2880)aaC>aaT	p.N960N	ATP2B3_ENST00000359149.3_Silent_p.N974N|ATP2B3_ENST00000393842.1_Silent_p.N960N|ATP2B3_ENST00000263519.4_Silent_p.N974N|ATP2B3_ENST00000349466.2_Silent_p.N974N|ATP2B3_ENST00000370181.2_Silent_p.N960N|ATP2B3_ENST00000460549.1_3'UTR			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	974					ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TCATCTTCAACACGTTCGTCA	0.557													49	87					0	0	1	0	0	T	152826216	C	T	152826216	2	4	146	1	0	0	0	0	0	0	0	1	1140	477	17	2		2	ATP2B3	23	152826216	Silent	SNP	C	TCGA-DU-A7T6-01A-11D-A33T-08	17386316	152826216	2444344	141	22497											
ZSCAN20	7579	broad.mit.edu	37	1	33960315	33960315	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-A7T8-01A-21D-A34J-08	TCGA-DU-A7T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853c63c4-60c7-4f4c-89b5-0594ba29f94d	ef03bab0-00fa-4e7a-a3f5-964bee3f8224	g.chr1:33960315G>C	ENST00000361328.3	+	8	2524	c.2371G>C	c.(2371-2373)Gaa>Caa	p.E791Q		NM_145238.3	NP_660281	P17040	ZSC20_HUMAN	zinc finger and SCAN domain containing 20	791					viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				TCACACGGGGGAAAAGCCCTA	0.443													25	71					0	0	1	0	0	C	33960315	G	C	33960315	3	2	147	1	0	0	0	0	1	0	0	0	18273	1175	41	5	2397	5	ZSCAN20	1	33960315	Missense_Mutation	SNP	G	TCGA-DU-A7T8-01A-21D-A34J-08		33960315	215290306	1	22498											
TTC30B	150737	broad.mit.edu	37	2	178416956	178416956	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A7T8-01A-21D-A34J-08	TCGA-DU-A7T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853c63c4-60c7-4f4c-89b5-0594ba29f94d	ef03bab0-00fa-4e7a-a3f5-964bee3f8224	g.chr2:178416956G>A	ENST00000408939.3	-	1	786	c.536C>T	c.(535-537)gCc>gTc	p.A179V		NM_152517.2	NP_689730.2	Q8N4P2	TT30B_HUMAN	tetratricopeptide repeat domain 30B					Missing (in Ref. 1; BAB70953).	cell projection organization	cilium	binding			cervix(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	23			OV - Ovarian serous cystadenocarcinoma(117;0.00151)|Epithelial(96;0.00931)|all cancers(119;0.0362)			CTGCAGGGCGGCAAAAAACTT	0.542													4	96					0	0	1	0	0	A	178416956	G	A	178416956	3	1	147	1	0	0	0	0	1	0	0	0	16761	1203	42	2	1465	2	TTC30B	2	178416956	Missense_Mutation	SNP	G	TCGA-DU-A7T8-01A-21D-A34J-08		178416956	64782417	2	22499											
CASP8	841	broad.mit.edu	37	2	202149727	202149727	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A7T8-01A-21D-A34J-08	TCGA-DU-A7T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853c63c4-60c7-4f4c-89b5-0594ba29f94d	ef03bab0-00fa-4e7a-a3f5-964bee3f8224	g.chr2:202149727G>A	ENST00000358485.4	+	8	1364	c.1168G>A	c.(1168-1170)Gcc>Acc	p.A390T	CASP8_ENST00000432109.2_Missense_Mutation_p.A331T|CASP8_ENST00000264274.9_Missense_Mutation_p.A247T|CASP8_ENST00000323492.7_Missense_Mutation_p.A316T|CASP8_ENST00000392266.3_3'UTR|CASP8_ENST00000392259.2_3'UTR|CASP8_ENST00000264275.5_Missense_Mutation_p.A348T	NM_001080125.1	NP_001073594.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	331					activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding			breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						TGGACAGGAGGCCCCCATCTA	0.483										HNSCC(4;0.00038)			39	61					0	0	1	0	0	A	202149727	G	A	202149727	3	1	147	1	0	0	0	0	1	0	0	0	2695	1203	42	2	1298	2	CASP8	2	202149727	Missense_Mutation	SNP	G	TCGA-DU-A7T8-01A-21D-A34J-08	23732771	202149727	41049646	3	22500											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-DU-A7T8-01A-21D-A34J-08	TCGA-DU-A7T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853c63c4-60c7-4f4c-89b5-0594ba29f94d	ef03bab0-00fa-4e7a-a3f5-964bee3f8224	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	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								23	50					0	0	1	0	0	T	209113112	C	T	209113112	3	4	147	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-DU-A7T8-01A-21D-A34J-08	6963385	209113112	34086261	4	22501											
VIL1	7429	broad.mit.edu	37	2	219305467	219305467	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-A7T8-01A-21D-A34J-08	TCGA-DU-A7T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853c63c4-60c7-4f4c-89b5-0594ba29f94d	ef03bab0-00fa-4e7a-a3f5-964bee3f8224	g.chr2:219305467A>G	ENST00000248444.5	+	19	2340	c.2252A>G	c.(2251-2253)gAc>gGc	p.D751G	VIL1_ENST00000392114.2_Missense_Mutation_p.D440G	NM_007127.2	NP_009058.2	P09327	VILI_HUMAN	villin 1	751	Headpiece.				actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium	actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle	actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Renal(207;0.0474)		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCCAAAGTGGACGTGTTCAAT	0.542													17	34					0	0	1	0	0	G	219305467	A	G	219305467	3	3	147	1	0	0	0	0	1	0	0	0	17224	275	10	3	2322	3	VIL1	2	219305467	Missense_Mutation	SNP	A	TCGA-DU-A7T8-01A-21D-A34J-08	10192355	219305467	23893906	5	22502											
APPL1	26060	broad.mit.edu	37	3	57294042	57294042	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DU-A7T8-01A-21D-A34J-08	TCGA-DU-A7T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853c63c4-60c7-4f4c-89b5-0594ba29f94d	ef03bab0-00fa-4e7a-a3f5-964bee3f8224	g.chr3:57294042delT	ENST00000288266.3	+	17	1800	c.1653delT	c.(1651-1653)tgtfs	p.C551fs		NM_012096.2	NP_036228.1	Q9UKG1	DP13A_HUMAN	adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1	551	PID.				apoptosis|cell cycle|cell proliferation|insulin receptor signaling pathway|regulation of apoptosis|regulation of establishment of protein localization in plasma membrane|regulation of glucose import	cytosol|early endosome membrane|microsome|nucleus|vesicle membrane	protein kinase B binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(10)|liver(2)|lung(4)|prostate(2)	27				KIRC - Kidney renal clear cell carcinoma(284;0.0124)|Kidney(284;0.0144)		CTTGTGACTGTTTAAAGTAAG	0.313													23	32	---	---	---	---						-	57294042	T	-	57294042	7	5	147	1	0	1	0	1	0	0	0	0	814	1731	60	0	1719	0	APPL1	3	57294042	Frame_Shift_Del	DEL	T	TCGA-DU-A7T8-01A-21D-A34J-08		57294042	140728388	6	22503											
UPK1B	7348	broad.mit.edu	37	3	118913081	118913081	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A7T8-01A-21D-A34J-08	TCGA-DU-A7T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853c63c4-60c7-4f4c-89b5-0594ba29f94d	ef03bab0-00fa-4e7a-a3f5-964bee3f8224	g.chr3:118913081G>A	ENST00000264234.3	+	6	633	c.484G>A	c.(484-486)Gta>Ata	p.V162I	UPK1B_ENST00000460625.1_Missense_Mutation_p.V154I|UPK1B_ENST00000497685.1_Missense_Mutation_p.V82I	NM_006952.3	NP_008883.2	O75841	UPK1B_HUMAN	uroplakin 1B	162					epithelial cell differentiation	integral to membrane	structural molecule activity			breast(1)|endometrium(3)|large_intestine(2)|lung(6)|pancreas(1)|skin(1)	14				GBM - Glioblastoma multiforme(114;0.222)		TTGCTGTGGCGTAAATGGTCC	0.428													3	59					0	0	1	0	0	A	118913081	G	A	118913081	3	1	147	1	0	0	0	0	1	0	0	0	17068	1145	40	1	502	1	UPK1B	3	118913081	Missense_Mutation	SNP	G	TCGA-DU-A7T8-01A-21D-A34J-08	61619039	118913081	79109349	7	22504											
MDN1	23195	broad.mit.edu	37	6	90397870	90397870	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-A7T8-01A-21D-A34J-08	TCGA-DU-A7T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853c63c4-60c7-4f4c-89b5-0594ba29f94d	ef03bab0-00fa-4e7a-a3f5-964bee3f8224	g.chr6:90397870A>C	ENST00000369393.3	-	67	11397	c.11282T>G	c.(11281-11283)aTt>aGt	p.I3761S	MDN1_ENST00000428876.1_Missense_Mutation_p.I3761S			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	3761					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		GAAACTACGAATTCTGTCCAT	0.448													60	83					0	0	1	0	0	C	90397870	A	C	90397870	3	2	147	1	0	0	0	0	1	0	0	0	9465	101	4	4	5652	4	MDN1	6	90397870	Missense_Mutation	SNP	A	TCGA-DU-A7T8-01A-21D-A34J-08		90397870	80717197	8	22505											
CYP11B2	1585	broad.mit.edu	37	8	143999219	143999219	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A7T8-01A-21D-A34J-08	TCGA-DU-A7T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853c63c4-60c7-4f4c-89b5-0594ba29f94d	ef03bab0-00fa-4e7a-a3f5-964bee3f8224	g.chr8:143999219G>A	ENST00000323110.2	-	1	40	c.38C>T	c.(37-39)gCg>gTg	p.A13V		NM_000498.3	NP_000489.3	P19099	C11B2_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 2	13					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process		corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity			cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3)	39	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Candesartan(DB00796)|Metyrapone(DB01011)	CAGCCAGGGCGCTGCCACGCA	0.632									Familial Hyperaldosteronism type I				93	49					0	0	1	0	0	A	143999219	G	A	143999219	3	1	147	1	0	0	0	0	1	0	0	0	4169	1087	38	1	1509	1	CYP11B2	8	143999219	Missense_Mutation	SNP	G	TCGA-DU-A7T8-01A-21D-A34J-08		143999219	2364803	9	22506											
KIAA1217	56243	broad.mit.edu	37	10	24813330	24813330	+	Silent	SNP	C	C	T			TCGA-DU-A7T8-01A-21D-A34J-08	TCGA-DU-A7T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853c63c4-60c7-4f4c-89b5-0594ba29f94d	ef03bab0-00fa-4e7a-a3f5-964bee3f8224	g.chr10:24813330C>T	ENST00000376451.2	+	8	1844	c.1584C>T	c.(1582-1584)gcC>gcT	p.A528A	KIAA1217_ENST00000396446.1_Silent_p.A528A|KIAA1217_ENST00000376452.3_Silent_p.A810A|KIAA1217_ENST00000376454.3_Silent_p.A845A|KIAA1217_ENST00000307544.6_Silent_p.A528A|KIAA1217_ENST00000396445.1_Silent_p.A528A|KIAA1217_ENST00000376462.1_Silent_p.A765A|KIAA1217_ENST00000458595.1_Silent_p.A810A|KIAA1217_ENST00000430453.2_Intron			Q5T5P2	SKT_HUMAN	KIAA1217	845					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						AGGCCACAGCCGCAGAAGTCC	0.607													3	36					0	0	1	0	0	T	24813330	C	T	24813330	2	4	147	1	0	0	0	0	0	0	0	1	8258	639	23	1		1	KIAA1217	10	24813330	Silent	SNP	C	TCGA-DU-A7T8-01A-21D-A34J-08		24813330	110721417	10	22507											
TUT1	64852	broad.mit.edu	37	11	62342669	62342669	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A7T8-01A-21D-A34J-08	TCGA-DU-A7T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853c63c4-60c7-4f4c-89b5-0594ba29f94d	ef03bab0-00fa-4e7a-a3f5-964bee3f8224	g.chr11:62342669C>T	ENST00000476907.1	-	9	3213	c.2522G>A	c.(2521-2523)cGa>cAa	p.R841Q	MIR3654_ENST00000496634.2_Intron|TUT1_ENST00000308436.7_Missense_Mutation_p.R879Q			Q9H6E5	STPAP_HUMAN	terminal uridylyl transferase 1, U6 snRNA-specific	841					mRNA cleavage|mRNA polyadenylation|snRNA processing	nuclear speck|nucleolus	ATP binding|enzyme binding|mRNA 3'-UTR binding|polynucleotide adenylyltransferase activity|RNA uridylyltransferase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						AGTGAGCATTCGGTCAGCCGG	0.567													4	74					0	0	1	0	0	T	62342669	C	T	62342669	3	4	147	1	0	0	0	0	1	0	0	0	16842	884	31	1	106	1	TUT1	11	62342669	Missense_Mutation	SNP	C	TCGA-DU-A7T8-01A-21D-A34J-08		62342669	72663847	11	22508											
GRIA4	2893	broad.mit.edu	37	11	105769151	105769151	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-A7T8-01A-21D-A34J-08	TCGA-DU-A7T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853c63c4-60c7-4f4c-89b5-0594ba29f94d	ef03bab0-00fa-4e7a-a3f5-964bee3f8224	g.chr11:105769151A>G	ENST00000393127.2	+	7	1329	c.883A>G	c.(883-885)Aag>Gag	p.K295E	GRIA4_ENST00000393125.2_Missense_Mutation_p.K295E|GRIA4_ENST00000282499.5_Missense_Mutation_p.K295E|GRIA4_ENST00000525187.1_Missense_Mutation_p.K295E|GRIA4_ENST00000530497.1_Missense_Mutation_p.K295E|GRIA4_ENST00000428631.2_Missense_Mutation_p.K295E	NM_001077243.2	NP_001070711	P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	295					glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	L-Glutamic Acid(DB00142)	GACTCCTCCAAAGGTATTTGT	0.313													21	37					0	0	1	0	0	G	105769151	A	G	105769151	3	3	147	1	0	0	0	0	1	0	0	0	6811	15	1	3	905	3	GRIA4	11	105769151	Missense_Mutation	SNP	A	TCGA-DU-A7T8-01A-21D-A34J-08	43426482	105769151	29237365	12	22509											
ACSM4	341392	broad.mit.edu	37	12	7475909	7475909	+	Splice_Site	SNP	A	A	G			TCGA-DU-A7T8-01A-21D-A34J-08	TCGA-DU-A7T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853c63c4-60c7-4f4c-89b5-0594ba29f94d	ef03bab0-00fa-4e7a-a3f5-964bee3f8224	g.chr12:7475909A>G	ENST00000399422.4	+	8	1253	c.1205A>G	c.(1204-1206)cAg>cGg	p.Q402R		NM_001080454.1	NP_001073923.1	P0C7M7	ACSM4_HUMAN	acyl-CoA synthetase medium-chain family member 4	402					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			endometrium(6)|kidney(1)|lung(14)	21						TATGATGTCCAGGTAGGTTGA	0.398													3	7					0	0	1	0	0	G	7475909	A	G	7475909	5	3	147	1	0	0	0	0	0	0	1	0	186	202	7	3	1235	3	ACSM4	12	7475909	Splice_Site	SNP	A	TCGA-DU-A7T8-01A-21D-A34J-08		7475909	126375986	13	22510											
IPO8	10526	broad.mit.edu	37	12	30843474	30843474	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A7T8-01A-21D-A34J-08	TCGA-DU-A7T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853c63c4-60c7-4f4c-89b5-0594ba29f94d	ef03bab0-00fa-4e7a-a3f5-964bee3f8224	g.chr12:30843474C>T	ENST00000256079.4	-	2	460	c.122G>A	c.(121-123)cGg>cAg	p.R41Q		NM_006390.3	NP_006381.2	O15397	IPO8_HUMAN	importin 8	41	Importin N-terminal.				intracellular protein transport|signal transduction	cytoplasm|nucleus	protein transporter activity|Ran GTPase binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(16)|liver(1)|lung(22)|prostate(2)|skin(2)|urinary_tract(2)	52	all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					GACTATAATCCGAAGTAAACT	0.343													16	80					0	0	1	0	0	T	30843474	C	T	30843474	3	4	147	1	0	0	0	0	1	0	0	0	7842	652	23	1	3087	1	IPO8	12	30843474	Missense_Mutation	SNP	C	TCGA-DU-A7T8-01A-21D-A34J-08	23367565	30843474	103008421	14	22511											
CLMN	79789	broad.mit.edu	37	14	95669569	95669569	+	Missense_Mutation	SNP	T	T	C	rs145305362		TCGA-DU-A7T8-01A-21D-A34J-08	TCGA-DU-A7T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853c63c4-60c7-4f4c-89b5-0594ba29f94d	ef03bab0-00fa-4e7a-a3f5-964bee3f8224	g.chr14:95669569T>C	ENST00000298912.4	-	9	2230	c.2117A>G	c.(2116-2118)gAa>gGa	p.E706G		NM_024734.3	NP_079010.2	Q96JQ2	CLMN_HUMAN	calmin (calponin-like, transmembrane)	706						integral to membrane	actin binding			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(17)|prostate(3)|skin(3)	44				Epithelial(152;0.193)		ATCCAGGCCTTCTTCGCTGTG	0.567													22	36					0	0	1	0	0	C	95669569	T	C	95669569	3	2	147	1	0	0	0	0	1	0	0	0	3565	1783	62	3	911	3	CLMN	14	95669569	Missense_Mutation	SNP	T	TCGA-DU-A7T8-01A-21D-A34J-08		95669569	11679971	15	22512											
GPR132	29933	broad.mit.edu	37	14	105518014	105518014	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A7T8-01A-21D-A34J-08	TCGA-DU-A7T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853c63c4-60c7-4f4c-89b5-0594ba29f94d	ef03bab0-00fa-4e7a-a3f5-964bee3f8224	g.chr14:105518014G>A	ENST00000329797.3	-	4	1371	c.460C>T	c.(460-462)Cgc>Tgc	p.R154C	GPR132_ENST00000539291.2_Missense_Mutation_p.R154C|GPR132_ENST00000546679.1_5'UTR|GPR132_ENST00000392585.2_Missense_Mutation_p.R145C	NM_001278694.1|NM_001278696.1|NM_013345.2	NP_001265623.1|NP_001265625.1|NP_037477.1	Q9UNW8	GP132_HUMAN	G protein-coupled receptor 132	154	Poly-Arg.				response to stress	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	18		all_cancers(154;0.0953)|Melanoma(154;0.155)|all_epithelial(191;0.219)	OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227)	Epithelial(152;0.02)|all cancers(159;0.0419)|OV - Ovarian serous cystadenocarcinoma(161;0.0521)		CTCCGGCGGCGGCGGCCCCGA	0.612													34	30					0	0	1	0	0	A	105518014	G	A	105518014	3	1	147	1	0	0	0	0	1	0	0	0	6682	1116	39	1	686	1	GPR132	14	105518014	Missense_Mutation	SNP	G	TCGA-DU-A7T8-01A-21D-A34J-08	9848445	105518014	1831526	16	22513											
FHOD1	29109	broad.mit.edu	37	16	67267991	67267991	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A7T8-01A-21D-A34J-08	TCGA-DU-A7T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853c63c4-60c7-4f4c-89b5-0594ba29f94d	ef03bab0-00fa-4e7a-a3f5-964bee3f8224	g.chr16:67267991G>A	ENST00000258201.4	-	13	1862	c.1615C>T	c.(1615-1617)Ctc>Ttc	p.L539F		NM_013241.2	NP_037373.2	Q9Y613	FHOD1_HUMAN	formin homology 2 domain containing 1	539	FH1.				actin cytoskeleton organization	cytoplasm|cytoskeleton|nucleus	actin binding			breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	34		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)		CCAATAGAGAGCCTGGGTGCA	0.597													40	64					0	0	1	0	0	A	67267991	G	A	67267991	3	1	147	1	0	0	0	0	1	0	0	0	5915	971	34	2	1919	2	FHOD1	16	67267991	Missense_Mutation	SNP	G	TCGA-DU-A7T8-01A-21D-A34J-08		67267991	23086762	17	22514											
TP53	7157	broad.mit.edu	37	17	7579329	7579329	+	Missense_Mutation	SNP	T	T	C	rs121912658		TCGA-DU-A7T8-01A-21D-A34J-08	TCGA-DU-A7T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853c63c4-60c7-4f4c-89b5-0594ba29f94d	ef03bab0-00fa-4e7a-a3f5-964bee3f8224	g.chr17:7579329T>C	ENST00000420246.2	-	4	490	c.358A>G	c.(358-360)Aag>Gag	p.K120E	TP53_ENST00000445888.2_Missense_Mutation_p.K120E|TP53_ENST00000455263.2_Missense_Mutation_p.K120E|TP53_ENST00000269305.4_Missense_Mutation_p.K120E|TP53_ENST00000359597.4_Missense_Mutation_p.K120E|TP53_ENST00000413465.2_Missense_Mutation_p.K120E	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	120	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.	Interaction with DNA.	K -> E (in sporadic cancers; somatic mutation).|K -> M (in sporadic cancers; somatic mutation).|K -> Q (in a sporadic cancer; somatic mutation).|K -> R (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.0?(8)|p.K120E(3)|p.G59fs*23(3)|p.K120*(2)|p.V73fs*9(1)|p.G105_T125del21(1)|p.G112_V122delGFLHSGTAKSV(1)|p.T118fs*27(1)|p.H115fs*27(1)|p.Y107fs*44(1)|p.K120Q(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.K120fs*3(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)		GTCACAGACTTGGCTGTCCCA	0.562		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			28	23					0	0	1	0	0	C	7579329	T	C	7579329	3	2	147	1	0	0	0	0	1	0	0	0	16442	1821	63	3	944	3	TP53	17	7579329	Missense_Mutation	SNP	T	TCGA-DU-A7T8-01A-21D-A34J-08		7579329	73615881	18	22515											
MAST1	22983	broad.mit.edu	37	19	12976207	12976207	+	Silent	SNP	T	T	C			TCGA-DU-A7T8-01A-21D-A34J-08	TCGA-DU-A7T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853c63c4-60c7-4f4c-89b5-0594ba29f94d	ef03bab0-00fa-4e7a-a3f5-964bee3f8224	g.chr19:12976207T>C	ENST00000251472.4	+	15	1755	c.1716T>C	c.(1714-1716)gcT>gcC	p.A572A		NM_014975.2	NP_055790.1	Q9Y2H9	MAST1_HUMAN	microtubule associated serine/threonine kinase 1	572	Protein kinase.				cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						ACTGGTGGGCTATGGGGATCA	0.607													5	81					0	0	1	0	0	C	12976207	T	C	12976207	2	2	147	1	0	0	0	0	0	0	0	1	9374	1509	53	3		3	MAST1	19	12976207	Silent	SNP	T	TCGA-DU-A7T8-01A-21D-A34J-08		12976207	46152776	19	22516											
MXRA5	25878	broad.mit.edu	37	X	3228566	3228566	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-A7T8-01A-21D-A34J-08	TCGA-DU-A7T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853c63c4-60c7-4f4c-89b5-0594ba29f94d	ef03bab0-00fa-4e7a-a3f5-964bee3f8224	g.chrX:3228566T>C	ENST00000217939.6	-	7	7832	c.7678A>G	c.(7678-7680)Atc>Gtc	p.I2560V		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2560	Ig-like C2-type 10.					extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				TTGAGGCTGATGGTGTGGCCC	0.632													5	0					0	0	1	0	0	C	3228566	T	C	3228566	3	2	147	1	0	0	0	0	1	0	0	0	10051	1464	51	3	812	3	MXRA5	23	3228566	Missense_Mutation	SNP	T	TCGA-DU-A7T8-01A-21D-A34J-08		3228566	152041994	20	22517											
ATRX	546	broad.mit.edu	37	X	76939375	76939375	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-A7T8-01A-21D-A34J-08	TCGA-DU-A7T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853c63c4-60c7-4f4c-89b5-0594ba29f94d	ef03bab0-00fa-4e7a-a3f5-964bee3f8224	g.chrX:76939375G>T	ENST00000373344.5	-	9	1587	c.1373C>A	c.(1372-1374)tCa>tAa	p.S458*	ATRX_ENST00000395603.3_Nonsense_Mutation_p.S420*|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	458					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)	TTCTGACTTTGAAATATCCTT	0.353			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						137	14					2.23197e-56	2.30172e-56	1	1	0	T	76939375	G	T	76939375	4	4	147	1	0	0	0	0	0	1	0	0	1206	1294	45	5	6213	5	ATRX	23	76939375	Nonsense_Mutation	SNP	G	TCGA-DU-A7T8-01A-21D-A34J-08	73710809	76939375	78331185	21	22518											
C1orf173	127254	broad.mit.edu	37	1	75072290	75072290	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr1:75072290T>C	ENST00000326665.5	-	10	1702	c.1484A>G	c.(1483-1485)aAa>aGa	p.K495R	RP4-612J11.1_ENST00000416017.1_RNA|C1orf173_ENST00000420661.2_Missense_Mutation_p.K298R	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	495	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						ATTACCATATTTTAAAGTATT	0.353													97	126					0	0	1	0	0	C	75072290	T	C	75072290	3	2	148	1	0	0	0	0	1	0	0	0	2027	1841	64	3	3128	3	C1orf173	1	75072290	Missense_Mutation	SNP	T	TCGA-DU-A7TA-01A-11D-A33T-08		75072290	174178331	1	22519											
KCNJ9	3765	broad.mit.edu	37	1	160054019	160054019	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr1:160054019G>C	ENST00000368088.3	+	2	441	c.199G>C	c.(199-201)Gcc>Ccc	p.A67P		NM_004983.2	NP_004974.2	Q92806	IRK9_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 9	67					synaptic transmission	integral to membrane|plasma membrane	G-protein activated inward rectifier potassium channel activity|protein binding			biliary_tract(1)|endometrium(3)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|skin(2)	16	all_cancers(52;5.86e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CTTCGTCCTGGCCTACGCGCT	0.667													4	38					0	0	1	0	0	C	160054019	G	C	160054019	3	2	148	1	0	0	0	0	1	0	0	0	8101	1203	42	5	201	5	KCNJ9	1	160054019	Missense_Mutation	SNP	G	TCGA-DU-A7TA-01A-11D-A33T-08	84981729	160054019	89196602	2	22520											
RGS4	5999	broad.mit.edu	37	1	163044190	163044192	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr1:163044190_163044192delAGA	ENST00000421743.2	+	6	909_911	c.749_751delAGA	c.(748-753)cagaag>cag	p.K252del	RGS4_ENST00000367906.3_In_Frame_Del_p.K137del|RGS4_ENST00000531057.1_Intron|RGS4_ENST00000491263.1_3'UTR|RGS4_ENST00000527809.1_In_Frame_Del_p.K137del|RGS4_ENST00000367909.6_In_Frame_Del_p.K155del|RGS4_ENST00000367908.4_3'UTR	NM_001102445.2|NM_001113380.1	NP_001095915.1|NP_001106851.1	P49798	RGS4_HUMAN	regulator of G-protein signaling 4	155					inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	plasma membrane	calmodulin binding|GTPase activator activity|signal transducer activity			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|upper_aerodigestive_tract(2)	21						GATGAGGCCCAGAAGAAGATTTT	0.512													271	482	---	---	---	---						-	163044192	AGA	-	163044190	7	5	148	1	0	1	0	1	0	0	0	0	13357	188	7	0	771	0	RGS4	1	163044190	In_Frame_Del	DEL	AGA	TCGA-DU-A7TA-01A-11D-A33T-08	2990171	163044190	86206431	3	22521											
PTGS2	5743	broad.mit.edu	37	1	186645672	186645672	+	Silent	SNP	G	G	A			TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr1:186645672G>A	ENST00000367468.5	-	7	1033	c.897C>T	c.(895-897)tgC>tgT	p.C299C	PTGS2_ENST00000490885.2_5'UTR	NM_000963.2	NP_000954.1	P35354	PGH2_HUMAN	prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)	299					cellular component movement|cyclooxygenase pathway|hormone biosynthetic process|positive regulation of brown fat cell differentiation|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of fever generation|positive regulation of fibroblast growth factor production|positive regulation of nitric oxide biosynthetic process|positive regulation of platelet-derived growth factor production|positive regulation of prostaglandin biosynthetic process|positive regulation of transforming growth factor-beta production|positive regulation vascular endothelial growth factor production|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|microsome|neuron projection|nucleus	enzyme binding|heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27					Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Carprofen(DB00821)|Celecoxib(DB00482)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Epoprostenol(DB01240)|Etodolac(DB00749)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Valdecoxib(DB00580)	TAAGCACATCGCATACTCTGT	0.463													59	222					0	0	1	0	0	A	186645672	G	A	186645672	2	1	148	1	0	0	0	0	0	0	0	1	12806	1079	38	1		1	PTGS2	1	186645672	Silent	SNP	G	TCGA-DU-A7TA-01A-11D-A33T-08	23601482	186645672	62604949	4	22522											
PTPRC	5788	broad.mit.edu	37	1	198703524	198703524	+	Silent	SNP	C	C	A			TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr1:198703524C>A	ENST00000367376.2	+	22	2412	c.2241C>A	c.(2239-2241)gtC>gtA	p.V747V	PTPRC_ENST00000594404.1_Silent_p.V586V|PTPRC_ENST00000352140.3_Silent_p.V699V|PTPRC_ENST00000442510.2_Silent_p.V749V|PTPRC_ENST00000348564.6_Silent_p.V588V	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	747	Tyrosine-protein phosphatase 1.				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						CAGTTATTGTCATGGTCACTC	0.408													15	641					1.3612e-06	1.4831e-06	1	1	0	A	198703524	C	A	198703524	2	1	148	1	0	0	0	0	0	0	0	1	12849	813	29	5		5	PTPRC	1	198703524	Silent	SNP	C	TCGA-DU-A7TA-01A-11D-A33T-08	12057852	198703524	50547097	5	22523											
RBBP5	5929	broad.mit.edu	37	1	205068185	205068185	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr1:205068185A>G	ENST00000264515.6	-	10	1169	c.1028T>C	c.(1027-1029)gTa>gCa	p.V343A	RBBP5_ENST00000367164.1_Missense_Mutation_p.V343A	NM_001193273.1|NM_005057.3	NP_001180202.1|NP_005048.2	Q15291	RBBP5_HUMAN	retinoblastoma binding protein 5	343					histone H3-K4 methylation|regulation of transcription, DNA-dependent|response to estrogen stimulus|transcription, DNA-dependent	MLL1 complex|Set1C/COMPASS complex	methylated histone residue binding|transcription regulatory region DNA binding			cervix(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	27	Breast(84;0.0505)		BRCA - Breast invasive adenocarcinoma(75;0.0923)			TTCGTATTCTACATTTTCATC	0.353													57	78					0	0	1	0	0	G	205068185	A	G	205068185	3	3	148	1	0	0	0	0	1	0	0	0	13154	391	14	3	608	3	RBBP5	1	205068185	Missense_Mutation	SNP	A	TCGA-DU-A7TA-01A-11D-A33T-08	6364661	205068185	44182436	6	22524											
LRP1B	53353	broad.mit.edu	37	2	141291650	141291650	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr2:141291650C>A	ENST00000389484.3	-	47	8673	c.7702G>T	c.(7702-7704)Ggc>Tgc	p.G2568C		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2568	LDL-receptor class A 12.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CATAACTTGCCATGAGGAATG	0.383										TSP Lung(27;0.18)			74	96					8.09925e-49	9.09608e-49	1	1	0	A	141291650	C	A	141291650	3	1	148	1	0	0	0	0	1	0	0	0	9000	594	21	5	6277	5	LRP1B	2	141291650	Missense_Mutation	SNP	C	TCGA-DU-A7TA-01A-11D-A33T-08		141291650	101907723	7	22525											
ERMN	57471	broad.mit.edu	37	2	158178296	158178296	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr2:158178296C>G	ENST00000410096.1	-	3	633	c.342G>C	c.(340-342)caG>caC	p.Q114H	ERMN_ENST00000535935.1_Missense_Mutation_p.Q8H|ERMN_ENST00000397283.2_Missense_Mutation_p.Q127H|ERMN_ENST00000409925.1_3'UTR|ERMN_ENST00000420719.2_Missense_Mutation_p.Q94H|ERMN_ENST00000409216.1_3'UTR	NM_020711.1	NP_065762.1	Q8TAM6	ERMIN_HUMAN	ermin, ERM-like protein	114						cytoplasm|cytoskeleton				endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12						TCTTCTCCCACTGATGCCCTG	0.413													21	78					0	0	1	0	0	G	158178296	C	G	158178296	3	3	148	1	0	0	0	0	1	0	0	0	5263	564	20	4	516	4	ERMN	2	158178296	Missense_Mutation	SNP	C	TCGA-DU-A7TA-01A-11D-A33T-08	16886646	158178296	85021077	8	22526											
ITGA4	3676	broad.mit.edu	37	2	182358103	182358103	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr2:182358103T>C	ENST00000397033.2	+	11	1635	c.1205T>C	c.(1204-1206)aTt>aCt	p.I402T		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	402					blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity	p.I402S(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	GCTATTTATATTTACAATGGC	0.348													71	96					0	0	1	0	0	C	182358103	T	C	182358103	3	2	148	1	0	0	0	0	1	0	0	0	7922	1493	52	3	1247	3	ITGA4	2	182358103	Missense_Mutation	SNP	T	TCGA-DU-A7TA-01A-11D-A33T-08	24179807	182358103	60841270	9	22527											
ATP2B2	491	broad.mit.edu	37	3	10379897	10379897	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr3:10379897A>C	ENST00000397077.1	-	21	3823	c.3248T>G	c.(3247-3249)aTc>aGc	p.I1083S	ATP2B2_ENST00000383800.4_Missense_Mutation_p.I1083S|ATP2B2_ENST00000360273.2_Missense_Mutation_p.I1128S|ATP2B2_ENST00000343816.4_Missense_Mutation_p.I1114S|ATP2B2_ENST00000352432.4_Missense_Mutation_p.I1128S			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	1128					ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						GAACCACAGGATCTGGCCCCG	0.682													6	100					0	0	1	0	0	C	10379897	A	C	10379897	3	2	148	1	0	0	0	0	1	0	0	0	1139	333	12	4	356	4	ATP2B2	3	10379897	Missense_Mutation	SNP	A	TCGA-DU-A7TA-01A-11D-A33T-08		10379897	187642533	10	22528											
CHCHD4	131474	broad.mit.edu	37	3	14154514	14154514	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr3:14154514T>G	ENST00000295767.5	-	4	665	c.341A>C	c.(340-342)tAc>tCc	p.Y114S	CHCHD4_ENST00000396914.3_Missense_Mutation_p.Y101S	NM_144636.2	NP_653237.1	Q8N4Q1	MIA40_HUMAN	coiled-coil-helix-coiled-coil-helix domain containing 4	101	Asp/Glu-rich (acidic).				protein transport|transmembrane transport	mitochondrial intermembrane space				kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5						GAGGTCTGGGTATTTCTGCAT	0.507													37	56					0	0	1	0	0	G	14154514	T	G	14154514	3	3	148	1	0	0	0	0	1	0	0	0	3340	1638	57	5	130	5	CHCHD4	3	14154514	Missense_Mutation	SNP	T	TCGA-DU-A7TA-01A-11D-A33T-08	3774617	14154514	183867916	11	22529											
BTD	686	broad.mit.edu	37	3	15677045	15677045	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr3:15677045C>G	ENST00000383778.4	+	2	457	c.99C>G	c.(97-99)caC>caG	p.H33Q	BTD_ENST00000449107.1_Missense_Mutation_p.H55Q|BTD_ENST00000482824.1_3'UTR|BTD_ENST00000303498.5_Missense_Mutation_p.H53Q|BTD_ENST00000437172.1_Missense_Mutation_p.H55Q	NM_001281725.1	NP_001268654.1	P43251	BTD_HUMAN	biotinidase	53					central nervous system development|epidermis development|nitrogen compound metabolic process	extracellular space	biotin carboxylase activity|biotinidase activity			breast(2)|endometrium(3)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	18						CTGACCATCACGAGGCTGAAT	0.562													4	258					0	0	1	0	0	G	15677045	C	G	15677045	3	3	148	1	0	0	0	0	1	0	0	0	1553	535	19	5	165	5	BTD	3	15677045	Missense_Mutation	SNP	C	TCGA-DU-A7TA-01A-11D-A33T-08	1522531	15677045	182345385	12	22530											
TOP2B	7155	broad.mit.edu	37	3	25646328	25646328	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr3:25646328G>C	ENST00000435706.2	-	33	4598	c.4397C>G	c.(4396-4398)tCt>tGt	p.S1466C	TOP2B_ENST00000264331.4_Missense_Mutation_p.S1471C|TOP2B_ENST00000542520.1_Missense_Mutation_p.S323C|TOP2B_ENST00000540199.1_Missense_Mutation_p.S323C			Q02880	TOP2B_HUMAN	topoisomerase (DNA) II beta 180kDa	1471					DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|resolution of meiotic recombination intermediates|sister chromatid segregation	cytosol|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex|WINAC complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|skin(2)|stomach(1)	36						AACAGAAGCAGAATCTTCTTC	0.323													39	143					0	0	1	0	0	C	25646328	G	C	25646328	3	2	148	1	0	0	0	0	1	0	0	0	16427	942	33	4	484	4	TOP2B	3	25646328	Missense_Mutation	SNP	G	TCGA-DU-A7TA-01A-11D-A33T-08	9969283	25646328	172376102	13	22531			1	13		2	2	31	G		5.9113e-05
TOP2B	7155	broad.mit.edu	37	3	25646358	25646358	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr3:25646358G>C	ENST00000435706.2	-	33	4568	c.4367C>G	c.(4366-4368)tCa>tGa	p.S1456*	TOP2B_ENST00000264331.4_Nonsense_Mutation_p.S1461*|TOP2B_ENST00000542520.1_Nonsense_Mutation_p.S313*|TOP2B_ENST00000540199.1_Nonsense_Mutation_p.S313*			Q02880	TOP2B_HUMAN	topoisomerase (DNA) II beta 180kDa	1461					DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|resolution of meiotic recombination intermediates|sister chromatid segregation	cytosol|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex|WINAC complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|skin(2)|stomach(1)	36						AAATTTAGCTGAATCTAAAAA	0.338													22	112					0	0	1	0	0	C	25646358	G	C	25646358	4	2	148	1	0	0	0	0	0	1	0	0	16427	1294	45	5	514	5	TOP2B	3	25646358	Nonsense_Mutation	SNP	G	TCGA-DU-A7TA-01A-11D-A33T-08	30	25646358	172376072	14	22532			1	13		2	2	31	G		5.9113e-05
ATP13A5	344905	broad.mit.edu	37	3	193036786	193036786	+	Nonsense_Mutation	SNP	A	A	C			TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr3:193036786A>C	ENST00000342358.4	-	17	2144	c.2027T>G	c.(2026-2028)tTa>tGa	p.L676*		NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	676					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		TTACCTGGCTAAGTGCTCGAC	0.483													112	151					0	0	1	0	0	C	193036786	A	C	193036786	4	2	148	1	0	0	0	0	0	1	0	0	1126	372	13	5	1683	5	ATP13A5	3	193036786	Nonsense_Mutation	SNP	A	TCGA-DU-A7TA-01A-11D-A33T-08	167390428	193036786	4985644	15	22533											
MUC4	4585	broad.mit.edu	37	3	195505859	195505859	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr3:195505859T>C	ENST00000463781.3	-	2	13051	c.12592A>G	c.(12592-12594)Act>Gct	p.T4198A	MUC4_ENST00000475231.1_Missense_Mutation_p.T4198A|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	961					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	p.T4198A(2)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GCTGAGGAAGTGTCGGTGACA	0.602													3	7					0	0	1	0	0	C	195505859	T	C	195505859	3	2	148	1	0	0	0	0	1	0	0	0	10026	1696	59	3		3	MUC4	3	195505859	Missense_Mutation	SNP	T	TCGA-DU-A7TA-01A-11D-A33T-08	2469073	195505859	2516571	16	22534											
SORCS2	57537	broad.mit.edu	37	4	7728538	7728538	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr4:7728538C>A	ENST00000507866.2	+	21	2886	c.2777C>A	c.(2776-2778)aCg>aAg	p.T926K	SORCS2_ENST00000329016.9_Missense_Mutation_p.T754K	NM_020777.2	NP_065828.2	Q96PQ0	SORC2_HUMAN	sortilin-related VPS10 domain containing receptor 2	926						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	42						TCTGTGACAACGCGGTTTTCG	0.657													4	280					1	1	1	1	0	A	7728538	C	A	7728538	3	1	148	1	0	0	0	0	1	0	0	0	14985	536	19	5	2859	5	SORCS2	4	7728538	Missense_Mutation	SNP	C	TCGA-DU-A7TA-01A-11D-A33T-08		7728538	183425738	17	22535											
WDR19	57728	broad.mit.edu	37	4	39271708	39271708	+	Nonsense_Mutation	SNP	T	T	A			TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr4:39271708T>A	ENST00000399820.3	+	31	3625	c.3471T>A	c.(3469-3471)taT>taA	p.Y1157*	WDR19_ENST00000288634.7_Nonsense_Mutation_p.Y997*	NM_025132.3	NP_079408.3	Q8NEZ3	WDR19_HUMAN	WD repeat domain 19	1157					cell projection organization	microtubule basal body|motile cilium|photoreceptor connecting cilium	binding			large_intestine(1)	1						TGCACAGCTATATACTAGTAA	0.473													24	100					0	0	1	0	0	A	39271708	T	A	39271708	4	1	148	1	0	0	0	0	0	1	0	0	17339	1413	49	4	3593	4	WDR19	4	39271708	Nonsense_Mutation	SNP	T	TCGA-DU-A7TA-01A-11D-A33T-08	31543170	39271708	151882568	18	22536											
FRAS1	80144	broad.mit.edu	37	4	79240069	79240069	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr4:79240069G>A	ENST00000264895.6	+	18	2506	c.2066G>A	c.(2065-2067)gGc>gAc	p.G689D	FRAS1_ENST00000325942.6_Missense_Mutation_p.G689D|FRAS1_ENST00000264899.6_Missense_Mutation_p.G689D	NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	689					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						TCTGACGTGGGCATCCCCTCT	0.532													4	167					0	0	1	0	0	A	79240069	G	A	79240069	3	1	148	1	0	0	0	0	1	0	0	0	6076	1203	42	2	2136	2	FRAS1	4	79240069	Missense_Mutation	SNP	G	TCGA-DU-A7TA-01A-11D-A33T-08	39968361	79240069	111914207	19	22537											
PPM1K	152926	broad.mit.edu	37	4	89190005	89190005	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr4:89190005T>C	ENST00000608933.1	-	4	984	c.595A>G	c.(595-597)Att>Gtt	p.I199V	PPM1K_ENST00000508256.1_5'UTR|PPM1K_ENST00000295908.7_Missense_Mutation_p.I199V|PPM1K_ENST00000506423.1_5'UTR	NM_152542.4	NP_689755.3	Q8N3J5	PPM1K_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1K		PP2C-like.				protein dephosphorylation	mitochondrial matrix|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	13		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000192)		ACCAGTTCAATACCATCTCGC	0.428													65	147					0	0	1	0	0	C	89190005	T	C	89190005	3	2	148	1	0	0	0	0	1	0	0	0	12392	1406	49	3	539	3	PPM1K	4	89190005	Missense_Mutation	SNP	T	TCGA-DU-A7TA-01A-11D-A33T-08	9949936	89190005	101964271	20	22538											
ERCC8	1161	broad.mit.edu	37	5	60170485	60170485	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr5:60170485G>A	ENST00000426742.2	-	13	1408	c.974C>T	c.(973-975)cCg>cTg	p.P325L	ERCC8_ENST00000543101.1_Missense_Mutation_p.P230L|ERCC8_ENST00000462279.1_5'UTR|ERCC8_ENST00000265038.5_Missense_Mutation_p.P383L			Q13216	ERCC8_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 8	383					positive regulation of DNA repair|proteasomal ubiquitin-dependent protein catabolic process|protein autoubiquitination|protein polyubiquitination|response to oxidative stress|response to UV|transcription-coupled nucleotide-excision repair	Cul4A-RING ubiquitin ligase complex|nuclear matrix|nucleoplasm|nucleotide-excision repair complex|soluble fraction	protein binding|protein complex binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	14		Lung NSC(810;1.51e-06)|Prostate(74;0.0322)|Ovarian(174;0.0481)|Breast(144;0.077)				TTCAAAGGCCGGATTTAATTG	0.313													42	56					0	0	1	0	0	A	60170485	G	A	60170485	3	1	148	1	0	0	0	0	1	0	0	0	5247	1116	39	1	46	1	ERCC8	5	60170485	Missense_Mutation	SNP	G	TCGA-DU-A7TA-01A-11D-A33T-08		60170485	120744775	21	22539											
TRIM23	373	broad.mit.edu	37	5	64910016	64910016	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr5:64910016delT	ENST00000231524.9	-	3	646	c.275delA	c.(274-276)aatfs	p.N92fs	TRIM23_ENST00000274327.7_Frame_Shift_Del_p.N92fs|TRIM23_ENST00000381018.3_Frame_Shift_Del_p.N92fs	NM_001656.3	NP_001647.1	P36406	TRI23_HUMAN	tripartite motif containing 23	92					interspecies interaction between organisms|small GTPase mediated signal transduction	Golgi membrane|lysosomal membrane	enzyme activator activity|GDP binding|GTP binding|GTPase activity|protein binding|ubiquitin-protein ligase activity|zinc ion binding	p.N92I(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	28		Lung NSC(167;3.24e-06)|Prostate(74;0.0138)|Breast(144;0.0433)|Ovarian(174;0.0545)|Colorectal(97;0.234)		Lung(70;0.00473)		TAAAGCAAAATTTTTTTTCAA	0.358													7	296	---	---	---	---						-	64910016	T	-	64910016	7	5	148	1	0	1	0	1	0	0	0	0	16558	1493	52	0	1552	0	TRIM23	5	64910016	Frame_Shift_Del	DEL	T	TCGA-DU-A7TA-01A-11D-A33T-08	4739531	64910016	116005244	22	22540											
ARAP3	64411	broad.mit.edu	37	5	141051740	141051740	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr5:141051740G>A	ENST00000239440.4	-	10	1579	c.1514C>T	c.(1513-1515)gCg>gTg	p.A505V	ARAP3_ENST00000513878.1_Missense_Mutation_p.A167V|ARAP3_ENST00000508305.1_Missense_Mutation_p.A427V	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	505	Arf-GAP.				cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						CCCACAGTCCGCACACTGCCG	0.612													7	435					0	0	1	0	0	A	141051740	G	A	141051740	3	1	148	1	0	0	0	0	1	0	0	0	837	1087	38	1	3216	1	ARAP3	5	141051740	Missense_Mutation	SNP	G	TCGA-DU-A7TA-01A-11D-A33T-08	76141724	141051740	39863520	23	22541											
GPRIN1	114787	broad.mit.edu	37	5	176026278	176026278	+	Silent	SNP	C	C	T			TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr5:176026278C>T	ENST00000303991.4	-	2	735	c.558G>A	c.(556-558)gaG>gaA	p.E186E		NM_052899.2	NP_443131.2	Q7Z2K8	GRIN1_HUMAN	G protein regulated inducer of neurite outgrowth 1	186						growth cone|plasma membrane				NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(89;0.00263)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGATTTCAGGCTCTGCCTTTC	0.502													63	109					0	0	1	0	0	T	176026278	C	T	176026278	2	4	148	1	0	0	0	0	0	0	0	1	6770	796	28	2		2	GPRIN1	5	176026278	Silent	SNP	C	TCGA-DU-A7TA-01A-11D-A33T-08	34974538	176026278	4888982	24	22542											
KIAA1586	57691	broad.mit.edu	37	6	56919323	56919325	+	In_Frame_Del	DEL	AAT	AAT	-			TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr6:56919323_56919325delAAT	ENST00000370733.4	+	4	2233_2235	c.2026_2028delAAT	c.(2026-2028)aatdel	p.N678del	KIAA1586_ENST00000545356.1_In_Frame_Del_p.N651del	NM_020931.2	NP_065982.1	Q9HCI6	K1586_HUMAN	KIAA1586	678							nucleic acid binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|skin(1)	18	Lung NSC(77;0.0969)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			GGAATTTGTAAATAATAATATAA	0.276													19	59	---	---	---	---						-	56919325	AAT	-	56919323	7	5	148	1	0	1	0	1	0	0	0	0	8287	14	1	0	2040	0	KIAA1586	6	56919323	In_Frame_Del	DEL	AAT	TCGA-DU-A7TA-01A-11D-A33T-08		56919323	114195744	25	22543											
PTPRK	5796	broad.mit.edu	37	6	128312442	128312442	+	Silent	SNP	G	G	A			TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr6:128312442G>A	ENST00000368227.3	-	21	3393	c.3027C>T	c.(3025-3027)ggC>ggT	p.G1009G	PTPRK_ENST00000368207.3_Silent_p.G1024G|PTPRK_ENST00000532331.1_Silent_p.G1014G|PTPRK_ENST00000368213.5_Silent_p.G998G|PTPRK_ENST00000368215.3_Silent_p.G991G|PTPRK_ENST00000368210.3_Silent_p.G1010G|PTPRK_ENST00000368226.4_Silent_p.G992G			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	991	Tyrosine-protein phosphatase 1.				cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		CTCTTACCCGGCCAACCTCAA	0.348													4	149					0	0	1	0	0	A	128312442	G	A	128312442	2	1	148	1	0	0	0	0	0	0	0	1	12857	1190	42	2		2	PTPRK	6	128312442	Silent	SNP	G	TCGA-DU-A7TA-01A-11D-A33T-08	71393119	128312442	42802625	26	22544											
MLLT4	4301	broad.mit.edu	37	6	168315910	168315910	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr6:168315910G>A	ENST00000366806.2	+	18	2483	c.2341G>A	c.(2341-2343)Gcc>Acc	p.A781T	MLLT4_ENST00000344191.4_Missense_Mutation_p.A781T|MLLT4_ENST00000447894.2_Missense_Mutation_p.A781T|MLLT4_ENST00000392108.3_Missense_Mutation_p.A781T|MLLT4_ENST00000392112.1_Missense_Mutation_p.A765T|MLLT4_ENST00000351017.4_Missense_Mutation_p.A788T|MLLT4_ENST00000400822.3_Missense_Mutation_p.A780T			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	781	Dilute.				adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		AGTCAATGCCGCCCTGACCAT	0.537			T	MLL	AL								4	175					0	0	1	0	0	A	168315910	G	A	168315910	3	1	148	1	0	0	0	0	1	0	0	0	9677	1087	38	1	2411	1	MLLT4	6	168315910	Missense_Mutation	SNP	G	TCGA-DU-A7TA-01A-11D-A33T-08	40003468	168315910	2799157	27	22545											
GLI3	2737	broad.mit.edu	37	7	42079655	42079655	+	Nonsense_Mutation	SNP	A	A	T			TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr7:42079655A>T	ENST00000395925.3	-	7	1094	c.1010T>A	c.(1009-1011)tTa>tAa	p.L337*	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	337					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						ACTTGCAGATAAGTGACCATA	0.413									Pallister-Hall syndrome;Greig Cephalopolysyndactyly				55	128					0	0	1	0	0	T	42079655	A	T	42079655	4	4	148	1	0	0	0	0	0	1	0	0	6481	372	13	5	3768	5	GLI3	7	42079655	Nonsense_Mutation	SNP	A	TCGA-DU-A7TA-01A-11D-A33T-08		42079655	117059008	28	22546											
CCDC132	55610	broad.mit.edu	37	7	92887696	92887696	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr7:92887696A>G	ENST00000544910.1	+	9	698	c.478A>G	c.(478-480)Atg>Gtg	p.M160V	CCDC132_ENST00000317751.6_5'UTR|CCDC132_ENST00000305866.5_Missense_Mutation_p.M190V|CCDC132_ENST00000251739.5_Missense_Mutation_p.M190V|CCDC132_ENST00000541136.1_Start_Codon_SNP_p.M1V|CCDC132_ENST00000535481.1_Intron	NM_001257998.1	NP_001244927.1	Q96JG6	CC132_HUMAN	coiled-coil domain containing 132	190										endometrium(1)|large_intestine(2)|lung(5)	8	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		STAD - Stomach adenocarcinoma(171;0.000302)			GTTAAGTGAAATGCTGGAGGT	0.313													50	286					0	0	1	0	0	G	92887696	A	G	92887696	3	3	148	1	0	0	0	0	1	0	0	0	2785	101	4	3	598	3	CCDC132	7	92887696	Missense_Mutation	SNP	A	TCGA-DU-A7TA-01A-11D-A33T-08	50808041	92887696	66250967	29	22547											
SMURF1	57154	broad.mit.edu	37	7	98655082	98655082	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr7:98655082C>T	ENST00000361125.1	-	4	615	c.296G>A	c.(295-297)cGg>cAg	p.R99Q	SMURF1_ENST00000480055.1_5'UTR|SMURF1_ENST00000361368.2_Missense_Mutation_p.R99Q	NM_020429.2	NP_065162.1	Q9HCE7	SMUF1_HUMAN	SMAD specific E3 ubiquitin protein ligase 1	99	C2.				BMP signaling pathway|cell differentiation|ectoderm development|negative regulation of BMP signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process|protein export from nucleus|protein localization at cell surface|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent SMAD protein catabolic process	cytosol|plasma membrane	activin binding|I-SMAD binding|R-SMAD binding|ubiquitin-protein ligase activity			endometrium(3)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|urinary_tract(1)	25	all_cancers(62;1.05e-08)|all_epithelial(64;4.34e-09)|Lung NSC(181;0.00902)|all_lung(186;0.0145)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)|Lung(104;0.224)			GGAGAGCAGCCGCACACAGCC	0.458													8	252					0	0	1	0	0	T	98655082	C	T	98655082	3	4	148	1	0	0	0	0	1	0	0	0	14873	652	23	1	2041	1	SMURF1	7	98655082	Missense_Mutation	SNP	C	TCGA-DU-A7TA-01A-11D-A33T-08	5767386	98655082	60483581	30	22548											
MOGAT3	346606	broad.mit.edu	37	7	100839296	100839296	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr7:100839296C>A	ENST00000379423.3	-	6	814	c.754G>T	c.(754-756)Gga>Tga	p.G252*	MOGAT3_ENST00000223114.4_Silent_p.L319L|MOGAT3_ENST00000440203.2_3'UTR			Q86VF5	MOGT3_HUMAN	monoacylglycerol O-acyltransferase 3	0					glycerol metabolic process|lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity|diacylglycerol O-acyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(3)	22	Lung NSC(181;0.168)|all_lung(186;0.215)					AGAGCTGCTCCAGGGCCGTCA	0.657													4	138					2.56e-06	2.74824e-06	1	1	0	A	100839296	C	A	100839296	4	1	148	1	0	0	0	0	0	1	0	0	9745	581	21	5	72	5	MOGAT3	7	100839296	Nonsense_Mutation	SNP	C	TCGA-DU-A7TA-01A-11D-A33T-08	2184214	100839296	58299367	31	22549	113	2									
MOGAT3	346606	broad.mit.edu	37	7	100839297	100839297	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr7:100839297A>G	ENST00000223114.4	-	7	1122	c.956T>C	c.(955-957)cTg>cCg	p.L319P	MOGAT3_ENST00000379423.3_Silent_p.P251P|MOGAT3_ENST00000440203.2_3'UTR	NM_178176.2	NP_835470.1	Q86VF5	MOGT3_HUMAN	monoacylglycerol O-acyltransferase 3	319					glycerol metabolic process|lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity|diacylglycerol O-acyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(3)	22	Lung NSC(181;0.168)|all_lung(186;0.215)					GAGCTGCTCCAGGGCCGTCAT	0.662													4	135					0	0	1	0	0	G	100839297	A	G	100839297	3	3	148	1	0	0	0	0	1	0	0	0	9745	188	7	3	73	3	MOGAT3	7	100839297	Missense_Mutation	SNP	A	TCGA-DU-A7TA-01A-11D-A33T-08	1	100839297	58299366	32	22550	113	2									
ST7	7982	broad.mit.edu	37	7	116739883	116739883	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr7:116739883A>G	ENST00000265437.5	+	2	433	c.219A>G	c.(217-219)atA>atG	p.I73M	ST7_ENST00000393451.3_Missense_Mutation_p.I73M|ST7_ENST00000465133.1_Missense_Mutation_p.I30M|ST7-AS2_ENST00000432541.1_RNA|ST7_ENST00000393449.1_Missense_Mutation_p.I73M|ST7_ENST00000393447.4_Missense_Mutation_p.I30M|ST7_ENST00000422922.1_Missense_Mutation_p.I27M|ST7_ENST00000393444.3_Missense_Mutation_p.I30M|ST7_ENST00000393446.2_Missense_Mutation_p.I73M|ST7_ENST00000393443.1_Missense_Mutation_p.I23M|ST7_ENST00000432298.1_Missense_Mutation_p.I27M|ST7_ENST00000323984.3_Missense_Mutation_p.I73M|ST7_ENST00000487459.1_3'UTR	NM_021908.2	NP_068708.1	Q9NRC1	ST7_HUMAN	suppression of tumorigenicity 7	73						integral to membrane	binding	p.I73I(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(1)	21	all_cancers(3;3.88e-07)|all_epithelial(6;3.42e-07)|Lung NSC(10;0.00072)|all_lung(10;0.000847)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		CCTCACTAATATCAGGGCTTA	0.373													4	186					0	0	1	0	0	G	116739883	A	G	116739883	3	3	148	1	0	0	0	0	1	0	0	0	15285	439	16	3	225	3	ST7	7	116739883	Missense_Mutation	SNP	A	TCGA-DU-A7TA-01A-11D-A33T-08	15900586	116739883	42398780	33	22551											
OR2A2	442361	broad.mit.edu	37	7	143807373	143807373	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr7:143807373G>A	ENST00000408979.2	+	1	767	c.698G>A	c.(697-699)cGc>cAc	p.R233H		NM_001005480.2	NP_001005480.2	Q6IF42	OR2A2_HUMAN	olfactory receptor, family 2, subfamily A, member 2	233					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4)	22	Melanoma(164;0.0783)					AAGGAGGGCCGCATAAAGGCC	0.522													5	367					0	0	1	0	0	A	143807373	G	A	143807373	3	1	148	1	0	0	0	0	1	0	0	0	11025	1087	38	1	700	1	OR2A2	7	143807373	Missense_Mutation	SNP	G	TCGA-DU-A7TA-01A-11D-A33T-08	27067490	143807373	15331290	34	22552											
WDR60	55112	broad.mit.edu	37	7	158669356	158669359	+	Frame_Shift_Del	DEL	AGAG	AGAG	-			TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr7:158669356_158669359delAGAG	ENST00000407559.3	+	4	705_708	c.547_550delAGAG	c.(547-552)agagaafs	p.RE183fs		NM_018051.4	NP_060521.4	Q8WVS4	WDR60_HUMAN	WD repeat domain 60	183										NS(3)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(4)|lung(16)|ovary(2)	35	Ovarian(565;0.152)	all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18)		AGATGAAGATAGAGAAAGAAGATA	0.348													7	13	---	---	---	---						-	158669359	AGAG	-	158669356	7	5	148	1	0	1	0	1	0	0	0	0	17371	412	15	0	561	0	WDR60	7	158669356	Frame_Shift_Del	DEL	AGAG	TCGA-DU-A7TA-01A-11D-A33T-08	14861983	158669356	469307	35	22553											
INTS10	55174	broad.mit.edu	37	8	19701703	19701703	+	Silent	SNP	C	C	T			TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr8:19701703C>T	ENST00000397977.3	+	15	2234	c.1836C>T	c.(1834-1836)tgC>tgT	p.C612C		NM_018142.2	NP_060612.2	Q9NVR2	INT10_HUMAN	integrator complex subunit 10	612					snRNA processing	integrator complex	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	20				Colorectal(111;0.057)|COAD - Colon adenocarcinoma(73;0.215)		ATAAAATTTGCCAACAAGGAA	0.368													4	163					0	0	1	0	0	T	19701703	C	T	19701703	2	4	148	1	0	0	0	0	0	0	0	1	7820	747	26	2		2	INTS10	8	19701703	Silent	SNP	C	TCGA-DU-A7TA-01A-11D-A33T-08		19701703	126662319	36	22554											
RP1	6101	broad.mit.edu	37	8	55534814	55534814	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr8:55534814C>G	ENST00000220676.1	+	3	901	c.753C>G	c.(751-753)taC>taG	p.Y251*		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	251			Y -> C (in dbSNP:rs16920614).		axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			AGCGTGTGTACCCCAAGGGAA	0.433													55	115					0	0	1	0	0	G	55534814	C	G	55534814	4	3	148	1	0	0	0	0	0	1	0	0	13584	518	18	5	759	5	RP1	8	55534814	Nonsense_Mutation	SNP	C	TCGA-DU-A7TA-01A-11D-A33T-08	35833111	55534814	90829208	37	22555											
PSIP1	11168	broad.mit.edu	37	9	15469946	15469948	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr9:15469946_15469948delCTC	ENST00000380733.4	-	11	1364_1366	c.1021_1023delGAG	c.(1021-1023)gagdel	p.E341del	PSIP1_ENST00000380738.4_In_Frame_Del_p.E341del			O75475	PSIP1_HUMAN	PC4 and SFRS1 interacting protein 1	341					initiation of viral infection|interspecies interaction between organisms|nuclear mRNA 5'-splice site recognition|provirus integration|regulation of transcription, DNA-dependent|response to heat|response to oxidative stress|transcription, DNA-dependent	cytosol|nuclear heterochromatin|nuclear periphery|nucleoplasm|transcriptionally active chromatin	activating transcription factor binding|chromatin binding|DNA secondary structure binding|RNA polymerase II transcription coactivator activity			breast(2)|endometrium(2)|kidney(1)|lung(3)|prostate(1)	9				GBM - Glioblastoma multiforme(50;2.38e-06)		CTCGCTTCTTCTCCACTTTCTTA	0.296													35	85	---	---	---	---						-	15469948	CTC	-	15469946	7	5	148	1	0	1	0	1	0	0	0	0	12712	912	32	0	593	0	PSIP1	9	15469946	In_Frame_Del	DEL	CTC	TCGA-DU-A7TA-01A-11D-A33T-08		15469946	125743485	38	22556											
KIF24	347240	broad.mit.edu	37	9	34311231	34311233	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr9:34311231_34311233delCTT	ENST00000379166.2	-	2	231_233	c.112_114delAAG	c.(112-114)aagdel	p.K38del	KIF24_ENST00000402558.2_In_Frame_Del_p.K38del|KIF24_ENST00000345050.2_In_Frame_Del_p.K38del|KIF24_ENST00000379174.3_In_Frame_Del_p.K38del	NM_194313.2	NP_919289.2	Q5T7B8	KIF24_HUMAN	kinesin family member 24	38	SAM.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(13)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	32			LUSC - Lung squamous cell carcinoma(29;0.0107)			TGGAGTAGTCCTTCATTGTAATC	0.365													11	41	---	---	---	---						-	34311233	CTT	-	34311231	7	5	148	1	0	1	0	1	0	0	0	0	8334	680	24	0	4040	0	KIF24	9	34311231	In_Frame_Del	DEL	CTT	TCGA-DU-A7TA-01A-11D-A33T-08	18841285	34311231	106902200	39	22557											
NEBL	10529	broad.mit.edu	37	10	21139359	21139359	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr10:21139359G>C	ENST00000377122.4	-	11	1477	c.1081C>G	c.(1081-1083)Caa>Gaa	p.Q361E	NEBL_ENST00000417816.2_Intron|NEBL_ENST00000377159.4_Intron	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN	nebulette	361					regulation of actin filament length		actin binding|structural constituent of muscle			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						TTTGAAGCTTGATATGATGGT	0.313													81	148					0	0	1	0	0	C	21139359	G	C	21139359	3	2	148	1	0	0	0	0	1	0	0	0	10350	1299	45	5	2035	5	NEBL	10	21139359	Missense_Mutation	SNP	G	TCGA-DU-A7TA-01A-11D-A33T-08		21139359	114395388	40	22558											
C10orf12	26148	broad.mit.edu	37	10	98741872	98741872	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr10:98741872G>C	ENST00000286067.2	+	1	832	c.725G>C	c.(724-726)aGa>aCa	p.R242T		NM_015652.2	NP_056467.2	Q8N655	CJ012_HUMAN	chromosome 10 open reading frame 12	242										NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		CCAGCCCCTAGACATACAGTA	0.498													21	155					0	0	1	0	0	C	98741872	G	C	98741872	3	2	148	1	0	0	0	0	1	0	0	0	1593	942	33	4	727	4	C10orf12	10	98741872	Missense_Mutation	SNP	G	TCGA-DU-A7TA-01A-11D-A33T-08	77602513	98741872	36792875	41	22559											
FAM111B	374393	broad.mit.edu	37	11	58892666	58892666	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr11:58892666C>T	ENST00000343597.3	+	4	1287	c.1096C>T	c.(1096-1098)Cgg>Tgg	p.R366W	FAM111B_ENST00000411426.1_Missense_Mutation_p.R336W|FAM111B_ENST00000529618.1_Missense_Mutation_p.R336W	NM_198947.3	NP_945185.1	Q6SJ93	F111B_HUMAN	family with sequence similarity 111, member B	366							catalytic activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(12)|ovary(3)|pancreas(1)|skin(1)	40						ACAAGTTAGACGGAGGCCGCA	0.363													46	226					0	0	1	0	0	T	58892666	C	T	58892666	3	4	148	1	0	0	0	0	1	0	0	0	5431	527	19	1	1102	1	FAM111B	11	58892666	Missense_Mutation	SNP	C	TCGA-DU-A7TA-01A-11D-A33T-08		58892666	76113850	42	22560											
ARHGAP20	57569	broad.mit.edu	37	11	110479714	110479714	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr11:110479714G>C	ENST00000260283.4	-	9	1053	c.769C>G	c.(769-771)Ctc>Gtc	p.L257V	ARHGAP20_ENST00000524756.1_Missense_Mutation_p.L234V|ARHGAP20_ENST00000528829.1_Missense_Mutation_p.L221V|ARHGAP20_ENST00000527598.1_Missense_Mutation_p.L221V|ARHGAP20_ENST00000357139.3_Missense_Mutation_p.L231V|ARHGAP20_ENST00000533353.1_Missense_Mutation_p.L231V	NM_020809.3	NP_065860.2	Q9P2F6	RHG20_HUMAN	Rho GTPase activating protein 20	257	Ras-associating.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	60		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)		TTACCAATGAGTGGGTATGGA	0.358													13	381					0	0	1	0	0	C	110479714	G	C	110479714	3	2	148	1	0	0	0	0	1	0	0	0	867	1029	36	4	2838	4	ARHGAP20	11	110479714	Missense_Mutation	SNP	G	TCGA-DU-A7TA-01A-11D-A33T-08	51587048	110479714	24526802	43	22561											
KDM5A	5927	broad.mit.edu	37	12	419090	419090	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr12:419090C>T	ENST00000399788.2	-	22	3619	c.3257G>A	c.(3256-3258)gGc>gAc	p.G1086D	KDM5A_ENST00000382815.4_Missense_Mutation_p.G1086D	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN	lysine (K)-specific demethylase 5A	1086					chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						CCTATTTTTGCCACTCCCATA	0.378			T	NUP98	AML								5	309					0	0	1	0	0	T	419090	C	T	419090	3	4	148	1	0	0	0	0	1	0	0	0	8176	739	26	2	1843	2	KDM5A	12	419090	Missense_Mutation	SNP	C	TCGA-DU-A7TA-01A-11D-A33T-08		419090	133432805	44	22562											
NUAK1	9891	broad.mit.edu	37	12	106480621	106480621	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr12:106480621G>A	ENST00000261402.2	-	3	1783	c.404C>T	c.(403-405)gCc>gTc	p.A135V		NM_014840.2	NP_055655.1	O60285	NUAK1_HUMAN	NUAK family, SNF1-like kinase, 1	135	Protein kinase.						ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37						CCCTTTGCTGGCATATTCCAT	0.493													5	277					0	0	1	0	0	A	106480621	G	A	106480621	3	1	148	1	0	0	0	0	1	0	0	0	10760	1203	42	2	1601	2	NUAK1	12	106480621	Missense_Mutation	SNP	G	TCGA-DU-A7TA-01A-11D-A33T-08	106061531	106480621	27371274	45	22563											
UGGT2	55757	broad.mit.edu	37	13	96665687	96665690	+	Frame_Shift_Del	DEL	TTTG	TTTG	-			TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr13:96665687_96665690delTTTG	ENST00000376747.3	-	5	601_604	c.531_534delCAAA	c.(529-534)aacaaafs	p.NK177fs	UGGT2_ENST00000397618.3_Frame_Shift_Del_p.NK177fs|UGGT2_ENST00000376714.3_Frame_Shift_Del_p.NK177fs|UGGT2_ENST00000467305.1_5'UTR|UGGT2_ENST00000376712.4_Frame_Shift_Del_p.NK177fs	NM_020121.3	NP_064506.3	Q9NYU1	UGGG2_HUMAN	UDP-glucose glycoprotein glucosyltransferase 2	177					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2)	60						GTAAGTTCTCTTTGTTTGTAGGAA	0.328													52	64	---	---	---	---						-	96665690	TTTG	-	96665687	7	5	148	1	0	1	0	1	0	0	0	0	17002	1606	56	0	4156	0	UGGT2	13	96665687	Frame_Shift_Del	DEL	TTTG	TCGA-DU-A7TA-01A-11D-A33T-08		96665687	18504191	46	22564											
IDH2	3418	broad.mit.edu	37	15	90631838	90631838	+	Missense_Mutation	SNP	C	C	A	rs121913503		TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr15:90631838C>A	ENST00000330062.3	-	4	628	c.515G>T	c.(514-516)aGg>aTg	p.R172M	IDH2_ENST00000540499.2_Missense_Mutation_p.R120M|IDH2_ENST00000559482.1_Intron|IDH2_ENST00000539790.1_Missense_Mutation_p.R42M	NM_002168.2	NP_002159.2	P48735	IDHP_HUMAN	isocitrate dehydrogenase 2 (NADP+), mitochondrial	172					2-oxoglutarate metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding	p.R172K(116)|p.R172M(21)|p.R172N(1)		biliary_tract(11)|bone(19)|central_nervous_system(107)|endometrium(1)|haematopoietic_and_lymphoid_tissue(953)|large_intestine(8)|lung(5)|skin(5)	1109	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.106)			ATGGGCGTGCCTGCCAATGGT	0.632			M		GBM								49	73					1.89013e-27	2.09059e-27	1	1	0	A	90631838	C	A	90631838	3	1	148	1	0	0	0	0	1	0	0	0	7539	681	24	4	875	4	IDH2	15	90631838	Missense_Mutation	SNP	C	TCGA-DU-A7TA-01A-11D-A33T-08		90631838	11899554	47	22565											
SMG1	23049	broad.mit.edu	37	16	18823290	18823293	+	Frame_Shift_Del	DEL	CTGA	CTGA	-			TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr16:18823290_18823293delCTGA	ENST00000446231.2	-	61	11190_11193	c.10778_10781delTCAG	c.(10777-10782)gtcagafs	p.VR3593fs	RP11-1035H13.2_ENST00000569096.1_RNA|SMG1_ENST00000389467.3_Frame_Shift_Del_p.VR3594fs			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	3593					DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						TTTAGGGTCTCTGACTGCCTTTTT	0.377													67	134	---	---	---	---						-	18823293	CTGA	-	18823290	7	5	148	1	0	1	0	1	0	0	0	0	14849	913	32	0	216	0	SMG1	16	18823290	Frame_Shift_Del	DEL	CTGA	TCGA-DU-A7TA-01A-11D-A33T-08		18823290	71531463	48	22566											
PRSS8	5652	broad.mit.edu	37	16	31143813	31143813	+	Silent	SNP	C	C	T			TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr16:31143813C>T	ENST00000317508.6	-	5	905	c.642G>A	c.(640-642)ccG>ccA	p.P214P	PRSS8_ENST00000568261.1_Silent_p.P160P	NM_002773.3	NP_002764.1	Q16651	PRSS8_HUMAN	protease, serine, 8	214	Peptidase S1.				proteolysis	extracellular space|integral to membrane|plasma membrane	serine-type endopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(1)	8						GGACAAAGTGCGGCTCCTCAG	0.612													4	176					0	0	1	0	0	T	31143813	C	T	31143813	2	4	148	1	0	0	0	0	0	0	0	1	12684	755	27	1		1	PRSS8	16	31143813	Silent	SNP	C	TCGA-DU-A7TA-01A-11D-A33T-08	12320523	31143813	59210940	49	22567											
USP6	9098	broad.mit.edu	37	17	5039223	5039223	+	Splice_Site	SNP	G	G	A			TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr17:5039223G>A	ENST00000574788.1	+	17	2894	c.664G>A	c.(664-666)Gga>Aga	p.G222R	USP6_ENST00000250066.6_Splice_Site_p.G222R|USP6_ENST00000332776.4_Splice_Site_p.G222R|USP6_ENST00000304328.5_5'UTR			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6 (Tre-2 oncogene)	222	Rab-GAP TBC.				protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						CTCCCTGCCAGGTAGGTGAAC	0.617			T	"COL1A1, CDH11, ZNF9, OMD"	aneurysmal bone cysts								17	65					0	0	1	0	0	A	5039223	G	A	5039223	5	1	148	1	0	0	0	0	0	0	1	0	17146	1014	35	2	694	2	USP6	17	5039223	Splice_Site	SNP	G	TCGA-DU-A7TA-01A-11D-A33T-08		5039223	76155987	50	22568											
TP53	7157	broad.mit.edu	37	17	7579323	7579324	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr17:7579323_7579324insA	ENST00000420246.2	-	4	495_496	c.363_364insT	c.(361-366)tctgtgfs	p.V122fs	TP53_ENST00000269305.4_Frame_Shift_Ins_p.V122fs|TP53_ENST00000359597.4_Frame_Shift_Ins_p.V122fs|TP53_ENST00000445888.2_Frame_Shift_Ins_p.V122fs|TP53_ENST00000455263.2_Frame_Shift_Ins_p.V122fs|TP53_ENST00000413465.2_Frame_Shift_Ins_p.V122fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	122	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		V -> L (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.0?(8)|p.G59fs*23(3)|p.S121fs*27(1)|p.V73fs*9(1)|p.G105_T125del21(1)|p.G112_V122delGFLHSGTAKSV(1)|p.V122fs*46(1)|p.Y107fs*44(1)|p.V122L(1)|p.P13fs*18(1)|p.S33fs*23(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)		GTGCAAGTCACAGACTTGGCTG	0.559		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)			71	97	---	---	---	---						A	7579324	-	A	7579323	7	5	148	1	0	1	1	0	0	0	0	0	16442	478	17	0	938	0	TP53	17	7579323	Frame_Shift_Ins	INS	-	TCGA-DU-A7TA-01A-11D-A33T-08	2540100	7579323	73615887	51	22569											
AATF	26574	broad.mit.edu	37	17	35306431	35306431	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr17:35306431delG	ENST00000225402.5	+	1	257	c.6delG	c.(4-6)gcgfs	p.A2fs		NM_012138.3	NP_036270.1	Q9NY61	AATF_HUMAN	apoptosis antagonizing transcription factor	2				AG -> GR (in Ref. 2; AAD52016).	anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|negative regulation of superoxide anion generation|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to DNA damage stimulus	centrosome|focal adhesion|nucleolus	leucine zipper domain binding|sequence-specific DNA binding transcription factor activity			cervix(2)|endometrium(1)|large_intestine(4)|lung(7)|ovary(2)|skin(2)	18		Breast(25;0.00607)				TGACGATGGCGGGGCCGCAGC	0.687													2	4	---	---	---	---						-	35306431	G	-	35306431	7	5	148	1	0	1	0	1	0	0	0	0	25	1103	39	0	8	0	AATF	17	35306431	Frame_Shift_Del	DEL	G	TCGA-DU-A7TA-01A-11D-A33T-08	27727108	35306431	45888779	52	22570											
LRRC37A	9884	broad.mit.edu	37	17	44408247	44408247	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr17:44408247G>A	ENST00000320254.5	+	9	3607	c.3604G>A	c.(3604-3606)Gaa>Aaa	p.E1202K	LRRC37A_ENST00000393465.3_Missense_Mutation_p.E1202K|ARL17B_ENST00000570618.1_Intron|LRRC37A_ENST00000496930.1_Missense_Mutation_p.E240K|ARL17B_ENST00000575698.1_Intron|ARL17B_ENST00000434041.2_Intron|ARL17B_ENST00000575960.1_Intron	NM_014834.4	NP_055649.4	A6NMS7	L37A1_HUMAN	leucine rich repeat containing 37A	1202						integral to membrane				endometrium(1)|lung(2)|pancreas(6)|prostate(1)|skin(1)	11		Melanoma(429;0.211)		BRCA - Breast invasive adenocarcinoma(366;0.232)		GAACGCTGCCGAAGAAAAAAG	0.587													80	16					0	0	1	0	0	A	44408247	G	A	44408247	3	1	148	1	0	0	0	0	1	0	0	0	9036	1059	37	1	3638	1	LRRC37A	17	44408247	Missense_Mutation	SNP	G	TCGA-DU-A7TA-01A-11D-A33T-08	9101816	44408247	36786963	53	22571											
MUC16	94025	broad.mit.edu	37	19	9049380	9049380	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr19:9049380T>C	ENST00000397910.4	-	5	32454	c.32251A>G	c.(32251-32253)Act>Gct	p.T10751A		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10753	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTTGGAATAGTCATATTTCTG	0.463													125	179					0	0	1	0	0	C	9049380	T	C	9049380	3	2	148	1	0	0	0	0	1	0	0	0	10021	1667	58	3	11592	3	MUC16	19	9049380	Missense_Mutation	SNP	T	TCGA-DU-A7TA-01A-11D-A33T-08		9049380	50079603	54	22572											
KEAP1	9817	broad.mit.edu	37	19	10602360	10602360	+	Silent	SNP	G	G	A			TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr19:10602360G>A	ENST00000171111.5	-	3	1765	c.1218C>T	c.(1216-1218)tgC>tgT	p.C406C	KEAP1_ENST00000393623.2_Silent_p.C406C	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	406					regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding			breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)			TCATGGGGGCGCAGGGCGACC	0.652													12	18					0	0	1	0	0	A	10602360	G	A	10602360	2	1	148	1	0	0	0	0	0	0	0	1	8184	1079	38	1		1	KEAP1	19	10602360	Silent	SNP	G	TCGA-DU-A7TA-01A-11D-A33T-08	1552980	10602360	48526623	55	22573											
SPACA4	171169	broad.mit.edu	37	19	49110580	49110580	+	Silent	SNP	G	G	T			TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr19:49110580G>T	ENST00000321762.1	+	1	581	c.345G>T	c.(343-345)ctG>ctT	p.L115L	FAM83E_ENST00000263266.3_Intron	NM_133498.2	NP_598005.1	Q8TDM5	SACA4_HUMAN	sperm acrosome associated 4	115					cell adhesion	acrosomal vesicle|anchored to membrane|plasma membrane				central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)	5		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000112)|GBM - Glioblastoma multiforme(486;0.00615)|Epithelial(262;0.0155)		CACTGGGGCTGGGTATGCTGC	0.642													3	18					6.4e-05	6.67429e-05	1	1	0	T	49110580	G	T	49110580	2	4	148	1	0	0	0	0	0	0	0	1	15028	1335	47	5		5	SPACA4	19	49110580	Silent	SNP	G	TCGA-DU-A7TA-01A-11D-A33T-08	38508220	49110580	10018403	56	22574											
ZSCAN5A	79149	broad.mit.edu	37	19	56733663	56733663	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr19:56733663G>C	ENST00000587340.1	-	7	1467	c.772C>G	c.(772-774)Ccc>Gcc	p.P258A	ZSCAN5A_ENST00000254165.3_Missense_Mutation_p.P141A|ZSCAN5A_ENST00000592355.1_Missense_Mutation_p.P257A|ZSCAN5A_ENST00000391713.1_Missense_Mutation_p.P258A|ZSCAN5A_ENST00000587492.1_Missense_Mutation_p.P112A			Q9BUG6	ZSA5A_HUMAN	zinc finger and SCAN domain containing 5A	258					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						ATTTTTGGGGGGTCCTTCCCC	0.502													61	158					0	0	1	0	0	C	56733663	G	C	56733663	3	2	148	1	0	0	0	0	1	0	0	0	18278	1232	43	5	722	5	ZSCAN5A	19	56733663	Missense_Mutation	SNP	G	TCGA-DU-A7TA-01A-11D-A33T-08	7623083	56733663	2395320	57	22575											
ZNF8	7554	broad.mit.edu	37	19	58805612	58805612	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr19:58805612G>C	ENST00000196548.5	+	4	569	c.438G>C	c.(436-438)caG>caC	p.Q146H	AC010642.1_ENST00000591325.1_3'UTR|ZNF8_ENST00000608843.1_Missense_Mutation_p.Q146H			P17098	ZNF8_HUMAN	zinc finger protein 8	146					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|skin(1)	19		all_cancers(17;6.46e-05)|Lung NSC(17;0.0233)|all_neural(62;0.0381)|all_epithelial(17;0.0427)|all_lung(17;0.057)|Ovarian(87;0.17)|Colorectal(82;0.227)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.00619)		GTCAGAGCCAGAGTCTGGCAC	0.517													6	34					0	0	1	0	0	C	58805612	G	C	58805612	3	2	148	1	0	0	0	0	1	0	0	0	18216	933	33	4	452	4	ZNF8	19	58805612	Missense_Mutation	SNP	G	TCGA-DU-A7TA-01A-11D-A33T-08	2071949	58805612	323371	58	22576											
SEC14L2	23541	broad.mit.edu	37	22	30811775	30811776	+	Frame_Shift_Del	DEL	AT	AT	-			TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr22:30811775_30811776delAT	ENST00000312932.9	+	9	952_953	c.692_693delAT	c.(691-693)catfs	p.H231fs	RP4-539M6.19_ENST00000439838.1_Frame_Shift_Del_p.H65fs|SEC14L2_ENST00000405717.3_Frame_Shift_Del_p.H231fs|SEC14L2_ENST00000403484.1_Frame_Shift_Del_p.H157fs|SEC14L2_ENST00000402592.3_Frame_Shift_Del_p.H148fs	NM_012429.3	NP_036561.1	O76054	S14L2_HUMAN	SEC14-like 2 (S. cerevisiae)	231	CRAL-TRIO.				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane|nucleus	phospholipid binding|transporter activity|vitamin E binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|urinary_tract(1)	10					Vitamin E(DB00163)	TTACTGAAACATATCAGCCCTG	0.5													48	54	---	---	---	---						-	30811776	AT	-	30811775	7	5	148	1	0	1	0	1	0	0	0	0	14036	217	8	0	726	0	SEC14L2	22	30811775	Frame_Shift_Del	DEL	AT	TCGA-DU-A7TA-01A-11D-A33T-08		30811775	20492791	59	22577											
EP300	2033	broad.mit.edu	37	22	41523588	41523588	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr22:41523588G>A	ENST00000263253.7	+	4	2223	c.1004G>A	c.(1003-1005)cGc>cAc	p.R335H		NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	335					apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						CCAGAGAAGCGCAAGCTCATC	0.602			"T,  N, F, Mis, O"	"MLL, RUNXBP2"	"colorectal, breast, pancreatic, AML, ALL, DLBCL"				Rubinstein-Taybi syndrome				6	267					0	0	1	0	0	A	41523588	G	A	41523588	3	1	148	1	0	0	0	0	1	0	0	0	5176	1087	38	1	1018	1	EP300	22	41523588	Missense_Mutation	SNP	G	TCGA-DU-A7TA-01A-11D-A33T-08	10711813	41523588	9780978	60	22578											
ATRX	546	broad.mit.edu	37	X	76777841	76777841	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chrX:76777841delG	ENST00000373344.5	-	32	7089	c.6875delC	c.(6874-6876)ccafs	p.P2292fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.P2254fs	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	2292					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			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)	GGTCCCAGTTGGTATGTTGAA	0.383			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						158	31	---	---	---	---						-	76777841	G	-	76777841	7	5	148	1	0	1	0	1	0	0	0	0	1206	1348	47	0	619	0	ATRX	23	76777841	Frame_Shift_Del	DEL	G	TCGA-DU-A7TA-01A-11D-A33T-08		76777841	78492719	61	22579											
BHLHB9	80823	broad.mit.edu	37	X	102004419	102004421	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chrX:102004419_102004421delGAG	ENST00000372735.1	+	4	1081_1083	c.496_498delGAG	c.(496-498)gagdel	p.E171del	BHLHB9_ENST00000457056.1_In_Frame_Del_p.E171del|BHLHB9_ENST00000448867.1_In_Frame_Del_p.E171del|BHLHB9_ENST00000361229.4_In_Frame_Del_p.E171del|BHLHB9_ENST00000447531.1_In_Frame_Del_p.E171del			Q6PI77	BHLH9_HUMAN	basic helix-loop-helix domain containing, class B, 9	171	Poly-Glu.					cytoplasm|nucleus	binding			cervix(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						GTCAGGGGCTGAGGAGGAGGAGG	0.488													10	212	---	---	---	---						-	102004421	GAG	-	102004419	7	5	148	1	0	1	0	1	0	0	0	0	1419	1291	45	0	498	0	BHLHB9	23	102004419	In_Frame_Del	DEL	GAG	TCGA-DU-A7TA-01A-11D-A33T-08	25226578	102004419	53266141	62	22580											
TNFRSF25	8718	broad.mit.edu	37	1	6521665	6521665	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-A7TB-01A-11D-A33T-08	TCGA-DU-A7TB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7095551c-6180-4cf2-a64a-a51c721f3cd7	97caf281-250f-404a-b54f-adf3225062c4	g.chr1:6521665G>C	ENST00000377782.3	-	10	1177	c.1110C>G	c.(1108-1110)atC>atG	p.I370M	TNFRSF25_ENST00000348333.3_Missense_Mutation_p.I316M|TNFRSF25_ENST00000351748.3_Missense_Mutation_p.I178M|TNFRSF25_ENST00000351959.5_Missense_Mutation_p.I324M|TNFRSF25_ENST00000356876.3_Missense_Mutation_p.I361M	NM_148965.1	NP_683866.1	Q93038	TNR25_HUMAN	tumor necrosis factor receptor superfamily, member 25	361	Death.		R -> L (in dbSNP:rs1064590).		apoptosis|induction of apoptosis by extracellular signals	cytosol|extracellular region|integral to plasma membrane	tumor necrosis factor receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|lung(4)|prostate(1)|stomach(1)	10	Ovarian(185;0.0386)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Acute lymphoblastic leukemia(12;0.00157)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;4.58e-35)|GBM - Glioblastoma multiforme(13;3.06e-27)|Colorectal(212;6.01e-08)|COAD - Colon adenocarcinoma(227;1.3e-05)|Kidney(185;4.88e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000871)|BRCA - Breast invasive adenocarcinoma(365;0.00105)|STAD - Stomach adenocarcinoma(132;0.00158)|READ - Rectum adenocarcinoma(331;0.0419)		CCACGGCTTCGATCTCTGCCT	0.697													24	23					0	0	1	0	0	C	6521665	G	C	6521665	3	2	149	1	0	0	0	0	1	0	0	0	16356	1048	37	5	174	5	TNFRSF25	1	6521665	Missense_Mutation	SNP	G	TCGA-DU-A7TB-01A-11D-A33T-08		6521665	242728956	1	22581											
ZMYM6	9204	broad.mit.edu	37	1	35476613	35476613	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-A7TB-01A-11D-A33T-08	TCGA-DU-A7TB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7095551c-6180-4cf2-a64a-a51c721f3cd7	97caf281-250f-404a-b54f-adf3225062c4	g.chr1:35476613T>C	ENST00000357182.4	-	9	1314	c.1087A>G	c.(1087-1089)Aca>Gca	p.T363A	ZMYM6_ENST00000493328.1_5'UTR|ZMYM6_ENST00000373340.2_Missense_Mutation_p.T363A|ZMYM6_ENST00000487874.1_Missense_Mutation_p.T363A	NM_007167.3	NP_009098.3	O95789	ZMYM6_HUMAN	zinc finger, MYM-type 6	363					multicellular organismal development	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(10)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	44		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13)				GAAGAGTTTGTTCCTTTTGGC	0.433													33	54					0	0	1	0	0	C	35476613	T	C	35476613	3	2	149	1	0	0	0	0	1	0	0	0	17762	1725	60	3	2922	3	ZMYM6	1	35476613	Missense_Mutation	SNP	T	TCGA-DU-A7TB-01A-11D-A33T-08	28954948	35476613	213774008	2	22582											
NT5C1A	84618	broad.mit.edu	37	1	40131320	40131320	+	Silent	SNP	A	A	T			TCGA-DU-A7TB-01A-11D-A33T-08	TCGA-DU-A7TB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7095551c-6180-4cf2-a64a-a51c721f3cd7	97caf281-250f-404a-b54f-adf3225062c4	g.chr1:40131320A>T	ENST00000235628.1	-	3	305	c.306T>A	c.(304-306)gcT>gcA	p.A102A		NM_032526.1	NP_115915.1	Q9BXI3	5NT1A_HUMAN	5'-nucleotidase, cytosolic IA	102					purine base metabolic process|purine nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	cytosol	5'-nucleotidase activity|magnesium ion binding|nucleotide binding			breast(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)	15	Lung NSC(20;3.81e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;4.3e-17)|all cancers(16;8.48e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			CGGCCTCCAGAGCCTGGAAAG	0.577													4	86					0	0	1	0	0	T	40131320	A	T	40131320	2	4	149	1	0	0	0	0	0	0	0	1	10733	291	11	5		5	NT5C1A	1	40131320	Silent	SNP	A	TCGA-DU-A7TB-01A-11D-A33T-08	4654707	40131320	209119301	3	22583											
ZCCHC11	23318	broad.mit.edu	37	1	52902559	52902559	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-A7TB-01A-11D-A33T-08	TCGA-DU-A7TB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7095551c-6180-4cf2-a64a-a51c721f3cd7	97caf281-250f-404a-b54f-adf3225062c4	g.chr1:52902559G>A	ENST00000371544.3	-	26	4289	c.4027C>T	c.(4027-4029)Cga>Tga	p.R1343*	ZCCHC11_ENST00000257177.4_Nonsense_Mutation_p.R1344*	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11	1343					miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance	cytoplasm|nucleolus	nucleic acid binding|protein binding|RNA uridylyltransferase activity|zinc ion binding			NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						TGGAGGTCTCGGGGGTCAAGA	0.458													74	118					0	0	1	0	0	A	52902559	G	A	52902559	4	1	149	1	0	0	0	0	0	1	0	0	17639	1124	39	1	927	1	ZCCHC11	1	52902559	Nonsense_Mutation	SNP	G	TCGA-DU-A7TB-01A-11D-A33T-08	12771239	52902559	196348062	4	22584											
TTN	7273	broad.mit.edu	37	2	179445326	179445326	+	Silent	SNP	C	C	T			TCGA-DU-A7TB-01A-11D-A33T-08	TCGA-DU-A7TB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7095551c-6180-4cf2-a64a-a51c721f3cd7	97caf281-250f-404a-b54f-adf3225062c4	g.chr2:179445326C>T	ENST00000589042.1	-	317	67004	c.66780G>A	c.(66778-66780)gaG>gaA	p.E22260E	TTN-AS1_ENST00000592750.1_RNA|RP11-171I2.2_ENST00000603521.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000359218.5_Silent_p.E13320E|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342992.6_Silent_p.E19692E|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Silent_p.E20619E|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000460472.2_Silent_p.E13195E|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Silent_p.E13387E|TTN-AS1_ENST00000586707.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	20619	Fibronectin type-III 61.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAAGTTCTCCCTCAGGTGGAA	0.378													16	47					0	0	1	0	0	T	179445326	C	T	179445326	2	4	149	1	0	0	0	0	0	0	0	1	16797	680	24	2		2	TTN	2	179445326	Silent	SNP	C	TCGA-DU-A7TB-01A-11D-A33T-08		179445326	63754047	5	22585											
SH3BP5	9467	broad.mit.edu	37	3	15300421	15300421	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A7TB-01A-11D-A33T-08	TCGA-DU-A7TB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7095551c-6180-4cf2-a64a-a51c721f3cd7	97caf281-250f-404a-b54f-adf3225062c4	g.chr3:15300421C>T	ENST00000383791.3	-	7	1026	c.806G>A	c.(805-807)cGg>cAg	p.R269Q	SH3BP5_ENST00000426925.1_Missense_Mutation_p.R112Q|SH3BP5_ENST00000408919.3_Missense_Mutation_p.R112Q|SH3BP5-AS1_ENST00000413977.1_RNA|SH3BP5-AS1_ENST00000420195.1_RNA|SH3BP5-AS1_ENST00000436602.1_RNA|SH3BP5_ENST00000253688.5_Missense_Mutation_p.R112Q	NM_004844.4	NP_004835.2	O60239	3BP5_HUMAN	SH3-domain binding protein 5 (BTK-associated)	269					intracellular signal transduction	mitochondrion	protein kinase inhibitor activity|SH3 domain binding			NS(1)|endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	12						ACCGCATCCCCGAGGCCCCAT	0.597													37	58					0	0	1	0	0	T	15300421	C	T	15300421	3	4	149	1	0	0	0	0	1	0	0	0	14301	652	23	1	573	1	SH3BP5	3	15300421	Missense_Mutation	SNP	C	TCGA-DU-A7TB-01A-11D-A33T-08		15300421	182722009	6	22586											
SLC26A6	65010	broad.mit.edu	37	3	48669775	48669775	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A7TB-01A-11D-A33T-08	TCGA-DU-A7TB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7095551c-6180-4cf2-a64a-a51c721f3cd7	97caf281-250f-404a-b54f-adf3225062c4	g.chr3:48669775G>A	ENST00000358747.6	-	4	675	c.425C>T	c.(424-426)cCg>cTg	p.P142L	SLC26A6_ENST00000395550.2_Missense_Mutation_p.P163L|SLC26A6_ENST00000455886.2_Intron|SLC26A6_ENST00000420764.2_Missense_Mutation_p.P163L|SLC26A6_ENST00000383733.3_Missense_Mutation_p.P163L|SLC26A6_ENST00000337000.8_Intron|SLC26A6_ENST00000482282.1_5'UTR	NM_001040454.1	NP_001035544.1			solute carrier family 26 (anion exchanger), member 6										SLC26A6/PRKAR2A(2)	NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00609)		CAAGGCCTGCGGGGCCAGGGA	0.597													21	46					0	0	1	0	0	A	48669775	G	A	48669775	3	1	149	1	0	0	0	0	1	0	0	0	14576	1116	39	1	1895	1	SLC26A6	3	48669775	Missense_Mutation	SNP	G	TCGA-DU-A7TB-01A-11D-A33T-08	33369354	48669775	149352655	7	22587											
USP19	10869	broad.mit.edu	37	3	49152282	49152282	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A7TB-01A-11D-A33T-08	TCGA-DU-A7TB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7095551c-6180-4cf2-a64a-a51c721f3cd7	97caf281-250f-404a-b54f-adf3225062c4	g.chr3:49152282G>A	ENST00000453664.1	-	15	2488	c.2170C>T	c.(2170-2172)Cgg>Tgg	p.R724W	USP19_ENST00000398898.2_Missense_Mutation_p.R673W|USP19_ENST00000398896.1_Missense_Mutation_p.R441W|USP19_ENST00000398888.2_Missense_Mutation_p.R633W|USP19_ENST00000417901.1_Missense_Mutation_p.R736W|USP19_ENST00000398892.3_Missense_Mutation_p.R673W|USP19_ENST00000434032.2_Missense_Mutation_p.R734W	NM_001199161.1|NM_001199162.1	NP_001186090.1|NP_001186091.1	O94966	UBP19_HUMAN	ubiquitin specific peptidase 19	633					ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy	endoplasmic reticulum membrane|integral to membrane	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		ATCTTGTGCCGCTGCCATGCT	0.562													4	100					0	0	1	0	0	A	49152282	G	A	49152282	3	1	149	1	0	0	0	0	1	0	0	0	17110	1086	38	1	2111	1	USP19	3	49152282	Missense_Mutation	SNP	G	TCGA-DU-A7TB-01A-11D-A33T-08	482507	49152282	148870148	8	22588											
DTX3L	151636	broad.mit.edu	37	3	122287626	122287626	+	Silent	SNP	A	A	G			TCGA-DU-A7TB-01A-11D-A33T-08	TCGA-DU-A7TB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7095551c-6180-4cf2-a64a-a51c721f3cd7	97caf281-250f-404a-b54f-adf3225062c4	g.chr3:122287626A>G	ENST00000296161.4	+	3	879	c.690A>G	c.(688-690)gaA>gaG	p.E230E	DTX3L_ENST00000383661.3_Intron	NM_138287.3	NP_612144.1	Q8TDB6	DTX3L_HUMAN	deltex 3-like (Drosophila)	230					histone monoubiquitination|response to DNA damage stimulus	cytoplasm|nucleus	histone binding|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(114;0.0459)		CCAAGGCAGAACAAAAAAGCA	0.383													37	66					0	0	1	0	0	G	122287626	A	G	122287626	2	3	149	1	0	0	0	0	0	0	0	1	4822	40	2	3		3	DTX3L	3	122287626	Silent	SNP	A	TCGA-DU-A7TB-01A-11D-A33T-08	73135344	122287626	75734804	9	22589											
EVC2	132884	broad.mit.edu	37	4	5696191	5696191	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A7TB-01A-11D-A33T-08	TCGA-DU-A7TB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7095551c-6180-4cf2-a64a-a51c721f3cd7	97caf281-250f-404a-b54f-adf3225062c4	g.chr4:5696191C>T	ENST00000310917.2	-	3	812	c.81G>A	c.(79-81)atG>atA	p.M27I	EVC2_ENST00000344408.5_Missense_Mutation_p.M107I|EVC2_ENST00000344938.1_Missense_Mutation_p.M107I	NM_001166136.1	NP_001159608.1	Q86UK5	LBN_HUMAN	Ellis van Creveld syndrome 2	107						integral to membrane				NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						TGAAGACTTCCATTTTCTTGT	0.413													35	93					0	0	1	0	0	T	5696191	C	T	5696191	3	4	149	1	0	0	0	0	1	0	0	0	5314	594	21	2	3685	2	EVC2	4	5696191	Missense_Mutation	SNP	C	TCGA-DU-A7TB-01A-11D-A33T-08		5696191	185458085	10	22590											
PPP3CA	5530	broad.mit.edu	37	4	101947178	101947178	+	Silent	SNP	G	G	A			TCGA-DU-A7TB-01A-11D-A33T-08	TCGA-DU-A7TB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7095551c-6180-4cf2-a64a-a51c721f3cd7	97caf281-250f-404a-b54f-adf3225062c4	g.chr4:101947178G>A	ENST00000394854.3	-	14	2093	c.1410C>T	c.(1408-1410)ttC>ttT	p.F470F	PPP3CA_ENST00000394853.4_Silent_p.F460F|PPP3CA_ENST00000323055.6_Silent_p.F418F|PPP3CA_ENST00000507176.1_Silent_p.F372F|PPP3CA_ENST00000512215.1_Silent_p.F238F|PPP3CA_ENST00000523694.2_Silent_p.F403F	NM_000944.4	NP_000935.1	Q08209	PP2BA_HUMAN	protein phosphatase 3, catalytic subunit, alpha isozyme	470	Inhibitory domain.				protein dephosphorylation	calcineurin complex|cytosol|nucleus	calcium ion binding|calmodulin binding			breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	20				OV - Ovarian serous cystadenocarcinoma(123;6.79e-08)		TGGCTTCCTCGAAGCTAGTGA	0.438													4	199					0	0	1	0	0	A	101947178	G	A	101947178	2	1	149	1	0	0	0	0	0	0	0	1	12446	1049	37	1		1	PPP3CA	4	101947178	Silent	SNP	G	TCGA-DU-A7TB-01A-11D-A33T-08	96250987	101947178	89207098	11	22591											
RRH	10692	broad.mit.edu	37	4	110754331	110754331	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A7TB-01A-11D-A33T-08	TCGA-DU-A7TB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7095551c-6180-4cf2-a64a-a51c721f3cd7	97caf281-250f-404a-b54f-adf3225062c4	g.chr4:110754331G>A	ENST00000317735.4	+	2	177	c.143G>A	c.(142-144)gGc>gAc	p.G48D		NM_006583.2	NP_006574.1	O14718	OPSX_HUMAN	retinal pigment epithelium-derived rhodopsin homolog	48					phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)	12		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00109)		ATAGTTCTGGGCATCTTCATT	0.353													12	142					0	0	1	0	0	A	110754331	G	A	110754331	3	1	149	1	0	0	0	0	1	0	0	0	13732	1203	42	2	149	2	RRH	4	110754331	Missense_Mutation	SNP	G	TCGA-DU-A7TB-01A-11D-A33T-08	8807153	110754331	80399945	12	22592											
NAF1	92345	broad.mit.edu	37	4	164050411	164050411	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-A7TB-01A-11D-A33T-08	TCGA-DU-A7TB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7095551c-6180-4cf2-a64a-a51c721f3cd7	97caf281-250f-404a-b54f-adf3225062c4	g.chr4:164050411G>A	ENST00000274054.2	-	8	1316	c.1123C>T	c.(1123-1125)Cga>Tga	p.R375*	NAF1_ENST00000422287.2_Intron|NAF1_ENST00000509434.1_Intron	NM_138386.2	NP_612395.2	Q96HR8	NAF1_HUMAN	nuclear assembly factor 1 ribonucleoprotein	375					rRNA processing|snRNA pseudouridine synthesis	cytoplasm|nucleus|small nucleolar ribonucleoprotein complex	protein binding|snoRNA binding			NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(10)|ovary(2)	21	all_hematologic(180;0.166)	Prostate(90;0.109)				GAAAATCCTCGTGTGAATTCT	0.448													19	83					0	0	1	0	0	A	164050411	G	A	164050411	4	1	149	1	0	0	0	0	0	1	0	0	10188	1153	40	1	506	1	NAF1	4	164050411	Nonsense_Mutation	SNP	G	TCGA-DU-A7TB-01A-11D-A33T-08	53296080	164050411	27103865	13	22593											
PIK3R1	5295	broad.mit.edu	37	5	67591247	67591249	+	Splice_Site	DEL	GGT	GGT	-			TCGA-DU-A7TB-01A-11D-A33T-08	TCGA-DU-A7TB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7095551c-6180-4cf2-a64a-a51c721f3cd7	97caf281-250f-404a-b54f-adf3225062c4	g.chr5:67591247_67591249delGGT	ENST00000521381.1	+	14	2361_2363	c.1745_1747delGGT	c.(1744-1749)aggtgg>agg	p.W583del	PIK3R1_ENST00000274335.5_Splice_Site_p.W583del|PIK3R1_ENST00000396611.1_Splice_Site_p.W583del|PIK3R1_ENST00000523872.1_Splice_Site_p.W220del|PIK3R1_ENST00000521657.1_Splice_Site_p.W583del|PIK3R1_ENST00000320694.8_Splice_Site_p.W283del|PIK3R1_ENST00000336483.5_Splice_Site_p.W313del	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	583					epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.M582_D605>I(4)|p.?(4)|p.Y580fs*1(1)|p.0?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	CTGTTTTTCAGGTGGTTGACTCA	0.365			"Mis, F, O"		"gliobastoma, ovarian, colorectal"					TCGA GBM(4;<1E-08)			44	90	---	---	---	---						-	67591249	GGT	-	67591247	8	5	149	1	0	1	0	1	0	0	1	0	11966	1014	35	0	1925	0	PIK3R1	5	67591247	Splice_Site	DEL	GGT	TCGA-DU-A7TB-01A-11D-A33T-08		67591247	113324013	14	22594											
HIVEP1	3096	broad.mit.edu	37	6	12122606	12122606	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A7TB-01A-11D-A33T-08	TCGA-DU-A7TB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7095551c-6180-4cf2-a64a-a51c721f3cd7	97caf281-250f-404a-b54f-adf3225062c4	g.chr6:12122606C>T	ENST00000379388.2	+	4	2910	c.2578C>T	c.(2578-2580)Cca>Tca	p.P860S		NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	860					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				TCCTCCTCATCCACTAAGAGG	0.448													50	208					0	0	1	0	0	T	12122606	C	T	12122606	3	4	149	1	0	0	0	0	1	0	0	0	7227	855	30	2	2588	2	HIVEP1	6	12122606	Missense_Mutation	SNP	C	TCGA-DU-A7TB-01A-11D-A33T-08		12122606	158992461	15	22595											
TDP2	51567	broad.mit.edu	37	6	24651110	24651110	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DU-A7TB-01A-11D-A33T-08	TCGA-DU-A7TB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7095551c-6180-4cf2-a64a-a51c721f3cd7	97caf281-250f-404a-b54f-adf3225062c4	g.chr6:24651110delC	ENST00000341060.3	-	6	1216	c.821delG	c.(820-822)cgafs	p.R274fs	TDP2_ENST00000378198.4_Frame_Shift_Del_p.R332fs|TDP2_ENST00000545995.1_Frame_Shift_Del_p.R362fs			O95551	TYDP2_HUMAN	tyrosyl-DNA phosphodiesterase 2	332					cell surface receptor linked signaling pathway|double-strand break repair	PML body	5'-tyrosyl-DNA phosphodiesterase activity|magnesium ion binding|nuclease activity|protein binding|transcription corepressor activity			kidney(2)|large_intestine(1)|lung(5)|ovary(1)	9						GTCCAAACTTCGGGGAATAAT	0.383								Direct reversal of damage					59	98	---	---	---	---						-	24651110	C	-	24651110	7	5	149	1	0	1	0	1	0	0	0	0	15788	884	31	0	97	0	TDP2	6	24651110	Frame_Shift_Del	DEL	C	TCGA-DU-A7TB-01A-11D-A33T-08	12528504	24651110	146463957	16	22596											
TNXB	7148	broad.mit.edu	37	6	32020677	32020677	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A7TB-01A-11D-A33T-08	TCGA-DU-A7TB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7095551c-6180-4cf2-a64a-a51c721f3cd7	97caf281-250f-404a-b54f-adf3225062c4	g.chr6:32020677C>T	ENST00000375244.3	-	26	9086	c.8885G>A	c.(8884-8886)gGa>gAa	p.G2962E	TNXB_ENST00000375247.2_Missense_Mutation_p.G2960E			P22105	TENX_HUMAN	tenascin XB	3007	Fibronectin type-III 21.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						AGGGGAGGATCCTGTCACTGT	0.667													6	110					0	0	1	0	0	T	32020677	C	T	32020677	3	4	149	1	0	0	0	0	1	0	0	0	16406	855	30	2	5910	2	TNXB	6	32020677	Missense_Mutation	SNP	C	TCGA-DU-A7TB-01A-11D-A33T-08	7369567	32020677	139094390	17	22597											
RHAG	6005	broad.mit.edu	37	6	49585873	49585873	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A7TB-01A-11D-A33T-08	TCGA-DU-A7TB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7095551c-6180-4cf2-a64a-a51c721f3cd7	97caf281-250f-404a-b54f-adf3225062c4	g.chr6:49585873C>T	ENST00000371175.4	-	3	426	c.400G>A	c.(400-402)Gga>Aga	p.G134R	RHAG_ENST00000229810.7_Missense_Mutation_p.G134R	NM_000324.2	NP_000315.2	Q02094	RHAG_HUMAN	Rh-associated glycoprotein	134					carbon dioxide transport|cellular ion homeostasis	integral to plasma membrane	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding			NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	39	Lung NSC(77;0.0255)					CTCGTTTTTCCCAGGACAGCT	0.393													26	47					0	0	1	0	0	T	49585873	C	T	49585873	3	4	149	1	0	0	0	0	1	0	0	0	13365	632	22	2	861	2	RHAG	6	49585873	Missense_Mutation	SNP	C	TCGA-DU-A7TB-01A-11D-A33T-08	17565196	49585873	121529194	18	22598											
ROS1	6098	broad.mit.edu	37	6	117700221	117700221	+	Splice_Site	SNP	C	C	A			TCGA-DU-A7TB-01A-11D-A33T-08	TCGA-DU-A7TB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7095551c-6180-4cf2-a64a-a51c721f3cd7	97caf281-250f-404a-b54f-adf3225062c4	g.chr6:117700221C>A	ENST00000368508.3	-	17	2796		c.e17+1		ROS1_ENST00000368507.3_Splice_Site|GOPC_ENST00000467125.1_Intron	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase						transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		ACTCTACTTACCTCTGTCCCC	0.383			T	"GOPC, SDC4, SLC34A2, EZR, LRIG3"	"glioblastoma, NSCLC"								7	91					2.7689e-08	3.08838e-08	1	1	0	A	117700221	C	A	117700221	5	1	149	1	0	0	0	0	0	0	1	0	13583	521	18	5	4553	5	ROS1	6	117700221	Splice_Site	SNP	C	TCGA-DU-A7TB-01A-11D-A33T-08	68114348	117700221	53414846	19	22599											
RSPO3	84870	broad.mit.edu	37	6	127471594	127471594	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-A7TB-01A-11D-A33T-08	TCGA-DU-A7TB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7095551c-6180-4cf2-a64a-a51c721f3cd7	97caf281-250f-404a-b54f-adf3225062c4	g.chr6:127471594T>A	ENST00000356698.4	+	3	902	c.313T>A	c.(313-315)Tgt>Agt	p.C105S	RSPO3_ENST00000368317.3_Missense_Mutation_p.C105S|RSPO3_ENST00000485757.1_3'UTR	NM_032784.3	NP_116173.2	Q9BXY4	RSPO3_HUMAN	R-spondin 3	105						extracellular region	heparin binding		PTPRK/RSPO3(10)	breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(8)|skin(1)	17				GBM - Glioblastoma multiforme(226;0.0555)		CTGTGATACCTGTTTCAACAA	0.373													40	86					0	0	1	0	0	A	127471594	T	A	127471594	3	1	149	1	0	0	0	0	1	0	0	0	13763	1580	55	5	323	5	RSPO3	6	127471594	Missense_Mutation	SNP	T	TCGA-DU-A7TB-01A-11D-A33T-08	9771373	127471594	43643473	20	22600											
PLEKHA8	84725	broad.mit.edu	37	7	30113727	30113727	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-A7TB-01A-11D-A33T-08	TCGA-DU-A7TB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7095551c-6180-4cf2-a64a-a51c721f3cd7	97caf281-250f-404a-b54f-adf3225062c4	g.chr7:30113727G>C	ENST00000449726.1	+	13	1691	c.1341G>C	c.(1339-1341)tgG>tgC	p.W447C	PLEKHA8_ENST00000258679.7_Intron|PLEKHA8_ENST00000396257.2_Missense_Mutation_p.W447C|AC007285.7_ENST00000433088.1_RNA|PLEKHA8_ENST00000396259.1_Intron	NM_001197027.1	NP_001183956.1	Q96JA3	PKHA8_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 8	447					protein transport	cytoplasm	glycolipid binding|glycolipid transporter activity			breast(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)	17						ACCATGGCTGGGTAGTTCGAG	0.408													28	65					0	0	1	0	0	C	30113727	G	C	30113727	3	2	149	1	0	0	0	0	1	0	0	0	12110	1247	43	5		5	PLEKHA8	7	30113727	Missense_Mutation	SNP	G	TCGA-DU-A7TB-01A-11D-A33T-08		30113727	129024936	21	22601											
CCDC146	57639	broad.mit.edu	37	7	76916122	76916122	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DU-A7TB-01A-11D-A33T-08	TCGA-DU-A7TB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7095551c-6180-4cf2-a64a-a51c721f3cd7	97caf281-250f-404a-b54f-adf3225062c4	g.chr7:76916122delA	ENST00000285871.4	+	16	2283	c.2156delA	c.(2155-2157)cagfs	p.Q719fs	CCDC146_ENST00000415740.2_3'UTR|CCDC146_ENST00000431197.1_Frame_Shift_Del_p.Q433fs	NM_020879.2	NP_065930.2	Q8IYE0	CC146_HUMAN	coiled-coil domain containing 146	719										breast(3)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	34		all_cancers(73;0.128)|all_lung(88;0.0986)|all_epithelial(88;0.163)|Myeloproliferative disorder(862;0.205)				TAGTTTTCACAGTGTACAGAC	0.373													59	116	---	---	---	---						-	76916122	A	-	76916122	7	5	149	1	0	1	0	1	0	0	0	0	2798	188	7	0	2214	0	CCDC146	7	76916122	Frame_Shift_Del	DEL	A	TCGA-DU-A7TB-01A-11D-A33T-08	46802395	76916122	82222541	22	22602											
BLK	640	broad.mit.edu	37	8	11418859	11418859	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A7TB-01A-11D-A33T-08	TCGA-DU-A7TB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7095551c-6180-4cf2-a64a-a51c721f3cd7	97caf281-250f-404a-b54f-adf3225062c4	g.chr8:11418859G>A	ENST00000259089.4	+	11	1670	c.1078G>A	c.(1078-1080)Gac>Aac	p.D360N	BLK_ENST00000529894.1_Missense_Mutation_p.D289N	NM_001715.2	NP_001706.2	P51451	BLK_HUMAN	B lymphoid tyrosine kinase	360	Protein kinase.				intracellular protein kinase cascade|positive regulation of insulin secretion		ATP binding|non-membrane spanning protein tyrosine kinase activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(4)|stomach(1)	27			STAD - Stomach adenocarcinoma(15;0.00391)	COAD - Colon adenocarcinoma(149;0.207)		CATCCACCGCGACCTGCGGGC	0.557													16	33					0	0	1	0	0	A	11418859	G	A	11418859	3	1	149	1	0	0	0	0	1	0	0	0	1443	1058	37	1	1116	1	BLK	8	11418859	Missense_Mutation	SNP	G	TCGA-DU-A7TB-01A-11D-A33T-08		11418859	134945163	23	22603											
BRD3	8019	broad.mit.edu	37	9	136899859	136899859	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A7TB-01A-11D-A33T-08	TCGA-DU-A7TB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7095551c-6180-4cf2-a64a-a51c721f3cd7	97caf281-250f-404a-b54f-adf3225062c4	g.chr9:136899859C>T	ENST00000303407.7	-	11	2214	c.2029G>A	c.(2029-2031)Ggg>Agg	p.G677R	BRD3_ENST00000473349.1_5'UTR	NM_007371.3	NP_031397.1	Q15059	BRD3_HUMAN	bromodomain containing 3	677	Ser-rich.					nucleus	protein binding	p.G677R(2)	BRD3/C15orf55(3)	kidney(1)|skin(1)|stomach(4)	6				OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07)		CTCAGCTGCCCGCTGACATCC	0.617			T	C15orf55	lethal midline carcinoma of young people								4	232					0	0	1	0	0	T	136899859	C	T	136899859	3	4	149	1	0	0	0	0	1	0	0	0	1505	652	23	1	159	1	BRD3	9	136899859	Missense_Mutation	SNP	C	TCGA-DU-A7TB-01A-11D-A33T-08		136899859	4313572	24	22604											
TMEM203	94107	broad.mit.edu	37	9	140099751	140099751	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-A7TB-01A-11D-A33T-08	TCGA-DU-A7TB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7095551c-6180-4cf2-a64a-a51c721f3cd7	97caf281-250f-404a-b54f-adf3225062c4	g.chr9:140099751C>G	ENST00000343666.5	-	1	339	c.116G>C	c.(115-117)gGc>gCc	p.G39A	TMEM203_ENST00000537254.1_Missense_Mutation_p.G39A	NM_053045.1	NP_444273.1	Q969S6	TM203_HUMAN	transmembrane protein 203	39						integral to membrane				central_nervous_system(1)|kidney(1)	2	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		CGGGACCAGGCCATCCACACG	0.632													9	19					0	0	1	0	0	G	140099751	C	G	140099751	3	3	149	1	0	0	0	0	1	0	0	0	16188	739	26	5	298	5	TMEM203	9	140099751	Missense_Mutation	SNP	C	TCGA-DU-A7TB-01A-11D-A33T-08	3199892	140099751	1113680	25	22605											
ANK3	288	broad.mit.edu	37	10	61958141	61958141	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A7TB-01A-11D-A33T-08	TCGA-DU-A7TB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7095551c-6180-4cf2-a64a-a51c721f3cd7	97caf281-250f-404a-b54f-adf3225062c4	g.chr10:61958141G>A	ENST00000280772.2	-	14	1837	c.1646C>T	c.(1645-1647)gCg>gTg	p.A549V	ANK3_ENST00000503366.1_Missense_Mutation_p.A532V|ANK3_ENST00000373827.2_Missense_Mutation_p.A543V	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)						establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						CAAAAGGAACGCGGCCACATC	0.502													19	127					0	0	1	0	0	A	61958141	G	A	61958141	3	1	149	1	0	0	0	0	1	0	0	0	618	1087	38	1	11940	1	ANK3	10	61958141	Missense_Mutation	SNP	G	TCGA-DU-A7TB-01A-11D-A33T-08		61958141	73576606	26	22606											
SLC22A6	9356	broad.mit.edu	37	11	62744732	62744732	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-A7TB-01A-11D-A33T-08	TCGA-DU-A7TB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7095551c-6180-4cf2-a64a-a51c721f3cd7	97caf281-250f-404a-b54f-adf3225062c4	g.chr11:62744732C>A	ENST00000377871.3	-	9	1755	c.1489G>T	c.(1489-1491)Gcc>Tcc	p.A497S	SLC22A6_ENST00000458333.2_Intron|SLC22A6_ENST00000360421.4_Missense_Mutation_p.A497S|SLC22A6_ENST00000421062.2_Intron	NM_004790.4|NM_153278.2	NP_004781.2|NP_695010.1	Q4U2R8	S22A6_HUMAN	solute carrier family 22 (organic anion transporter), member 6	497					alpha-ketoglutarate transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|protein binding	p.A497T(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(18)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						ACAGCGCTGGCGGCCACAGGA	0.642													21	107					2.70639e-06	2.96171e-06	1	1	0	A	62744732	C	A	62744732	3	1	149	1	0	0	0	0	1	0	0	0	14513	768	27	5	210	5	SLC22A6	11	62744732	Missense_Mutation	SNP	C	TCGA-DU-A7TB-01A-11D-A33T-08		62744732	72261784	27	22607											
VSIG2	23584	broad.mit.edu	37	11	124619648	124619648	+	Missense_Mutation	SNP	C	C	T	rs148389397		TCGA-DU-A7TB-01A-11D-A33T-08	TCGA-DU-A7TB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7095551c-6180-4cf2-a64a-a51c721f3cd7	97caf281-250f-404a-b54f-adf3225062c4	g.chr11:124619648C>T	ENST00000403470.1	-	4	597	c.542G>A	c.(541-543)cGt>cAt	p.R181H	VSIG2_ENST00000326621.5_Missense_Mutation_p.R181H			Q96IQ7	VSIG2_HUMAN	V-set and immunoglobulin domain containing 2	181	Ig-like C2-type.					integral to plasma membrane|membrane fraction				central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(5)	19	all_hematologic(175;0.215)	Breast(109;0.00663)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0215)		AGTTCCAAGACGCACCCAGTT	0.557													56	84					0	0	1	0	0	T	124619648	C	T	124619648	3	4	149	1	0	0	0	0	1	0	0	0	17284	536	19	1	457	1	VSIG2	11	124619648	Missense_Mutation	SNP	C	TCGA-DU-A7TB-01A-11D-A33T-08	61874916	124619648	10386868	28	22608											
ARID2	196528	broad.mit.edu	37	12	46231301	46231301	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-A7TB-01A-11D-A33T-08	TCGA-DU-A7TB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7095551c-6180-4cf2-a64a-a51c721f3cd7	97caf281-250f-404a-b54f-adf3225062c4	g.chr12:46231301C>A	ENST00000334344.6	+	10	1313	c.1141C>A	c.(1141-1143)Ctt>Att	p.L381I	ARID2_ENST00000444670.1_Missense_Mutation_p.L10I|ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000422737.1_Missense_Mutation_p.L232I	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	381					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		TTTGGGAAATCTTTGCAAAGC	0.323			"N, S, F"		hepatocellular carcinoma								28	162					6.32553e-13	7.19374e-13	1	1	0	A	46231301	C	A	46231301	3	1	149	1	0	0	0	0	1	0	0	0	912	913	32	4	1179	4	ARID2	12	46231301	Missense_Mutation	SNP	C	TCGA-DU-A7TB-01A-11D-A33T-08		46231301	87620594	29	22609											
FLT3	2322	broad.mit.edu	37	13	28608473	28608473	+	Missense_Mutation	SNP	C	C	T	rs35958982	byFrequency	TCGA-DU-A7TB-01A-11D-A33T-08	TCGA-DU-A7TB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7095551c-6180-4cf2-a64a-a51c721f3cd7	97caf281-250f-404a-b54f-adf3225062c4	g.chr13:28608473C>T	ENST00000380982.4	-	13	1750	c.1669G>A	c.(1669-1671)Gtt>Att	p.V557I	FLT3_ENST00000241453.7_Missense_Mutation_p.V557I|FLT3_ENST00000537084.1_Missense_Mutation_p.V557I			P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	557			V -> I (in dbSNP:rs35958982).		positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity	p.V557I(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Sorafenib(DB00398)|Sunitinib(DB01268)	AGGGTTAAAACGACAATGAAG	0.393			"Mis, O"		"AML, ALL"								37	89					0	0	1	0	0	T	28608473	C	T	28608473	3	4	149	1	0	0	0	0	1	0	0	0	5975	536	19	1	1360	1	FLT3	13	28608473	Missense_Mutation	SNP	C	TCGA-DU-A7TB-01A-11D-A33T-08		28608473	86561405	30	22610											
FRY	10129	broad.mit.edu	37	13	32605977	32605977	+	Silent	SNP	A	A	G			TCGA-DU-A7TB-01A-11D-A33T-08	TCGA-DU-A7TB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7095551c-6180-4cf2-a64a-a51c721f3cd7	97caf281-250f-404a-b54f-adf3225062c4	g.chr13:32605977A>G	ENST00000380250.3	+	1	541	c.45A>G	c.(43-45)aaA>aaG	p.K15K	FRY_ENST00000463566.1_3'UTR	NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	15					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		TCAGTATCAAATATTTACTGA	0.468													23	33					0	0	1	0	0	G	32605977	A	G	32605977	2	3	149	1	0	0	0	0	0	0	0	1	6098	98	4	3		3	FRY	13	32605977	Silent	SNP	A	TCGA-DU-A7TB-01A-11D-A33T-08	3997504	32605977	82563901	31	22611											
ADAM21	8747	broad.mit.edu	37	14	70924377	70924377	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-A7TB-01A-11D-A33T-08	TCGA-DU-A7TB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7095551c-6180-4cf2-a64a-a51c721f3cd7	97caf281-250f-404a-b54f-adf3225062c4	g.chr14:70924377G>T	ENST00000603540.1	+	2	419	c.161G>T	c.(160-162)aGt>aTt	p.S54I	ADAM21_ENST00000267499.3_Missense_Mutation_p.S54I|RP11-486O13.4_ENST00000556646.1_lincRNA	NM_003813.3	NP_003804.2	Q9UKJ8	ADA21_HUMAN	ADAM metallopeptidase domain 21	54					proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		AGGGGCAGAAGTGCAAAGGCT	0.522													18	250					7.33532e-06	7.87868e-06	1	1	0	T	70924377	G	T	70924377	3	4	149	1	0	0	0	0	1	0	0	0	242	1029	36	4	163	4	ADAM21	14	70924377	Missense_Mutation	SNP	G	TCGA-DU-A7TB-01A-11D-A33T-08		70924377	36425163	32	22612											
OR4M2	390538	broad.mit.edu	37	15	22368774	22368774	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-A7TB-01A-11D-A33T-08	TCGA-DU-A7TB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7095551c-6180-4cf2-a64a-a51c721f3cd7	97caf281-250f-404a-b54f-adf3225062c4	g.chr15:22368774G>T	ENST00000332663.2	+	1	297	c.199G>T	c.(199-201)Gcc>Tcc	p.A67S	RP11-69H14.6_ENST00000558896.1_RNA	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M, member 2	67					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		GGCTAATCTGGCCTTCCTTGA	0.408													13	1428					0.000274275	0.000279087	1	1	0	T	22368774	G	T	22368774	3	4	149	1	0	0	0	0	1	0	0	0	11124	1203	42	5	201	5	OR4M2	15	22368774	Missense_Mutation	SNP	G	TCGA-DU-A7TB-01A-11D-A33T-08		22368774	80162618	33	22613											
DISP2	85455	broad.mit.edu	37	15	40661876	40661876	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A7TB-01A-11D-A33T-08	TCGA-DU-A7TB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7095551c-6180-4cf2-a64a-a51c721f3cd7	97caf281-250f-404a-b54f-adf3225062c4	g.chr15:40661876G>A	ENST00000267889.3	+	8	3650	c.3563G>A	c.(3562-3564)cGg>cAg	p.R1188Q		NM_033510.1	NP_277045.1	A7MBM2	DISP2_HUMAN	dispatched homolog 2 (Drosophila)	1188					smoothened signaling pathway	integral to membrane				breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)	30		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)		CTGTCCCACCGGCCCTCAGTA	0.652													61	137					0	0	1	0	0	A	40661876	G	A	40661876	3	1	149	1	0	0	0	0	1	0	0	0	4568	1116	39	1	3593	1	DISP2	15	40661876	Missense_Mutation	SNP	G	TCGA-DU-A7TB-01A-11D-A33T-08	18293102	40661876	61869516	34	22614											
FBN1	2200	broad.mit.edu	37	15	48764802	48764802	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A7TB-01A-11D-A33T-08	TCGA-DU-A7TB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7095551c-6180-4cf2-a64a-a51c721f3cd7	97caf281-250f-404a-b54f-adf3225062c4	g.chr15:48764802G>A	ENST00000316623.5	-	35	4737	c.4282C>T	c.(4282-4284)Cgc>Tgc	p.R1428C		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	1428	EGF-like 24; calcium-binding.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		CATTCACAGCGGTATCCTCCT	0.542													6	175					0	0	1	0	0	A	48764802	G	A	48764802	3	1	149	1	0	0	0	0	1	0	0	0	5735	1116	39	1	4461	1	FBN1	15	48764802	Missense_Mutation	SNP	G	TCGA-DU-A7TB-01A-11D-A33T-08	8102926	48764802	53766590	35	22615											
GLDN	342035	broad.mit.edu	37	15	51689743	51689743	+	Silent	SNP	C	C	T			TCGA-DU-A7TB-01A-11D-A33T-08	TCGA-DU-A7TB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7095551c-6180-4cf2-a64a-a51c721f3cd7	97caf281-250f-404a-b54f-adf3225062c4	g.chr15:51689743C>T	ENST00000335449.6	+	6	821	c.765C>T	c.(763-765)agC>agT	p.S255S	GLDN_ENST00000396399.2_Silent_p.S131S	NM_181789.2	NP_861454.2	Q6ZMI3	GLDN_HUMAN	gliomedin	255	Pro-rich.				cell differentiation|nervous system development	collagen|integral to membrane|plasma membrane				central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19				all cancers(107;0.00194)|GBM - Glioblastoma multiforme(94;0.00942)		CCCCTGGAAGCAGAAGAGCCA	0.637													20	53					0	0	1	0	0	T	51689743	C	T	51689743	2	4	149	1	0	0	0	0	0	0	0	1	6476	709	25	2		2	GLDN	15	51689743	Silent	SNP	C	TCGA-DU-A7TB-01A-11D-A33T-08	2924941	51689743	50841649	36	22616											
SYNM	23336	broad.mit.edu	37	15	99669671	99669671	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-A7TB-01A-11D-A33T-08	TCGA-DU-A7TB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7095551c-6180-4cf2-a64a-a51c721f3cd7	97caf281-250f-404a-b54f-adf3225062c4	g.chr15:99669671A>G	ENST00000336292.6	+	5	1223	c.1103A>G	c.(1102-1104)aAt>aGt	p.N368S	SYNM_ENST00000328642.7_Missense_Mutation_p.N368S|SYNM_ENST00000560674.1_Missense_Mutation_p.N83S|SYNM_ENST00000561323.1_3'UTR|RP11-6O2.4_ENST00000566974.1_RNA	NM_145728.2	NP_663780.2	O15061	SYNEM_HUMAN	synemin, intermediate filament protein	369	Tail.				intermediate filament cytoskeleton organization	adherens junction|costamere|intermediate filament|neurofilament cytoskeleton	intermediate filament binding|structural constituent of cytoskeleton|structural constituent of muscle|vinculin binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(6)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	29						GCAAGTTTCAATCACAGCTCG	0.468													8	288					0	0	1	0	0	G	99669671	A	G	99669671	3	3	149	1	0	0	0	0	1	0	0	0	15512	101	4	3	1119	3	SYNM	15	99669671	Missense_Mutation	SNP	A	TCGA-DU-A7TB-01A-11D-A33T-08	47979928	99669671	2861721	37	22617											
SLC38A8	146167	broad.mit.edu	37	16	84050239	84050239	+	Silent	SNP	C	C	T			TCGA-DU-A7TB-01A-11D-A33T-08	TCGA-DU-A7TB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7095551c-6180-4cf2-a64a-a51c721f3cd7	97caf281-250f-404a-b54f-adf3225062c4	g.chr16:84050239C>T	ENST00000299709.3	-	8	1046	c.1047G>A	c.(1045-1047)ccG>ccA	p.P349P		NM_001080442.1	NP_001073911.1	A6NNN8	S38A8_HUMAN	solute carrier family 38, member 8	349					amino acid transport|sodium ion transport	integral to membrane				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						GGATGGTCAGCGGCATCCGGA	0.637													31	59					0	0	1	0	0	T	84050239	C	T	84050239	2	4	149	1	0	0	0	0	0	0	0	1	14665	755	27	1		1	SLC38A8	16	84050239	Silent	SNP	C	TCGA-DU-A7TB-01A-11D-A33T-08		84050239	6304514	38	22618											
THRA	7067	broad.mit.edu	37	17	38245687	38245690	+	Frame_Shift_Del	DEL	TCTT	TCTT	-			TCGA-DU-A7TB-01A-11D-A33T-08	TCGA-DU-A7TB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7095551c-6180-4cf2-a64a-a51c721f3cd7	97caf281-250f-404a-b54f-adf3225062c4	g.chr17:38245687_38245690delTCTT	ENST00000450525.2	+	9	1702_1705	c.1211_1214delTCTT	c.(1210-1215)gtctttfs	p.VF404fs	THRA_ENST00000546243.1_Frame_Shift_Del_p.VF404fs|THRA_ENST00000584985.1_Intron|THRA_ENST00000394121.4_Intron|THRA_ENST00000264637.4_Intron	NM_199334.3	NP_955366.1	P10827	THA_HUMAN	thyroid hormone receptor, alpha	0					negative regulation of RNA polymerase II transcriptional preinitiation complex assembly|negative regulation of transcription initiation, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription from RNA polymerase II promoter	cytosol|nucleoplasm	protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|TBP-class protein binding|thyroid hormone binding|thyroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1)	11	Colorectal(19;0.000442)	Myeloproliferative disorder(1115;0.0255)			Levothyroxine(DB00451)|Liothyronine(DB00279)	TTCCTCGAGGTCTTTGAGGATCAG	0.637													22	50	---	---	---	---						-	38245690	TCTT	-	38245687	7	5	149	1	0	1	0	1	0	0	0	0	15933	1667	58	0	1241	0	THRA	17	38245687	Frame_Shift_Del	DEL	TCTT	TCGA-DU-A7TB-01A-11D-A33T-08		38245687	42949523	39	22619											
SLC25A10	1468	broad.mit.edu	37	17	79682550	79682550	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A7TB-01A-11D-A33T-08	TCGA-DU-A7TB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7095551c-6180-4cf2-a64a-a51c721f3cd7	97caf281-250f-404a-b54f-adf3225062c4	g.chr17:79682550C>T	ENST00000331531.5	+	3	376	c.256C>T	c.(256-258)Cgg>Tgg	p.R86W	SLC25A10_ENST00000541223.1_Missense_Mutation_p.R241W|SLC25A10_ENST00000571730.1_Missense_Mutation_p.R241W|SLC25A10_ENST00000545862.1_Missense_Mutation_p.R43W|SLC25A10_ENST00000350690.5_Missense_Mutation_p.R86W	NM_001270888.1	NP_001257817.1	Q9UBX3	DIC_HUMAN	solute carrier family 25 (mitochondrial carrier; dicarboxylate transporter), member 10	86					gluconeogenesis|mitochondrial transport	integral to membrane|mitochondrial inner membrane|nucleus	protein binding			endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(2)	14	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0117)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)		Succinic acid(DB00139)	CGAGACTGTGCGGGACCGTGT	0.697													5	363					0	0	1	0	0	T	79682550	C	T	79682550	3	4	149	1	0	0	0	0	1	0	0	0	14527	759	27	1	266	1	SLC25A10	17	79682550	Missense_Mutation	SNP	C	TCGA-DU-A7TB-01A-11D-A33T-08	41436863	79682550	1512660	40	22620											
CNOT3	4849	broad.mit.edu	37	19	54646885	54646885	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A7TB-01A-11D-A33T-08	TCGA-DU-A7TB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7095551c-6180-4cf2-a64a-a51c721f3cd7	97caf281-250f-404a-b54f-adf3225062c4	g.chr19:54646885C>T	ENST00000406403.1	+	2	1659	c.56C>T	c.(55-57)tCc>tTc	p.S19F	CNOT3_ENST00000358389.3_5'UTR|CNOT3_ENST00000221232.5_Missense_Mutation_p.S19F			O75175	CNOT3_HUMAN	CCR4-NOT transcription complex, subunit 3	19					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3)	28	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					AAGAAGGTGTCCGAGGGCGTG	0.547													78	89					0	0	1	0	0	T	54646885	C	T	54646885	3	4	149	1	0	0	0	0	1	0	0	0	3643	855	30	2	62	2	CNOT3	19	54646885	Missense_Mutation	SNP	C	TCGA-DU-A7TB-01A-11D-A33T-08		54646885	4482098	41	22621											
BACE2	25825	broad.mit.edu	37	21	42613772	42613772	+	Silent	SNP	C	C	T			TCGA-DU-A7TB-01A-11D-A33T-08	TCGA-DU-A7TB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7095551c-6180-4cf2-a64a-a51c721f3cd7	97caf281-250f-404a-b54f-adf3225062c4	g.chr21:42613772C>T	ENST00000347667.5	+	4	1108	c.645C>T	c.(643-645)ttC>ttT	p.F215F	BACE2_ENST00000328735.6_Silent_p.F215F|BACE2_ENST00000330333.6_Silent_p.F215F|BACE2_ENST00000466122.1_3'UTR	NM_138991.1	NP_620476.1	Q9Y5Z0	BACE2_HUMAN	beta-site APP-cleaving enzyme 2						membrane protein ectodomain proteolysis|negative regulation of amyloid precursor protein biosynthetic process|peptide hormone processing	cell surface|endoplasmic reticulum|endosome|Golgi apparatus|integral to membrane	aspartic-type endopeptidase activity			endometrium(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14		Prostate(19;1.57e-07)|all_epithelial(19;0.0251)				AGACCTTCTTCGACTCCCTGG	0.582													69	139					0	0	1	0	0	T	42613772	C	T	42613772	2	4	149	1	0	0	0	0	0	0	0	1	1280	883	31	1		1	BACE2	21	42613772	Silent	SNP	C	TCGA-DU-A7TB-01A-11D-A33T-08		42613772	5516123	42	22622											
AIFM3	150209	broad.mit.edu	37	22	21330015	21330015	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A7TB-01A-11D-A33T-08	TCGA-DU-A7TB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7095551c-6180-4cf2-a64a-a51c721f3cd7	97caf281-250f-404a-b54f-adf3225062c4	g.chr22:21330015G>A	ENST00000399167.2	+	9	995	c.755G>A	c.(754-756)aGg>aAg	p.R252K	AIFM3_ENST00000399163.2_Missense_Mutation_p.R252K|AIFM3_ENST00000440238.2_Missense_Mutation_p.R252K|AIFM3_ENST00000405089.1_Missense_Mutation_p.R258K|AIFM3_ENST00000333607.6_Missense_Mutation_p.R252K|AIFM3_ENST00000465606.1_3'UTR|AIFM3_ENST00000335375.5_Missense_Mutation_p.R240K	NM_144704.2	NP_653305.1			apoptosis-inducing factor, mitochondrion-associated, 3											breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	21	all_cancers(11;3.71e-26)|all_epithelial(7;1.59e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0367)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			CTGGCCCTGAGGCCCAAGGAG	0.617													53	131					0	0	1	0	0	A	21330015	G	A	21330015	3	1	149	1	0	0	0	0	1	0	0	0	425	1000	35	2	803	2	AIFM3	22	21330015	Missense_Mutation	SNP	G	TCGA-DU-A7TB-01A-11D-A33T-08		21330015	29974551	43	22623											
SCO2	9997	broad.mit.edu	37	22	50962164	50962164	+	Missense_Mutation	SNP	A	A	G	rs150742660		TCGA-DU-A7TB-01A-11D-A33T-08	TCGA-DU-A7TB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7095551c-6180-4cf2-a64a-a51c721f3cd7	97caf281-250f-404a-b54f-adf3225062c4	g.chr22:50962164A>G	ENST00000543927.1	-	2	883	c.677T>C	c.(676-678)aTt>aCt	p.I226T	SCO2_ENST00000535425.1_Missense_Mutation_p.I226T|SCO2_ENST00000395693.3_Missense_Mutation_p.I226T|SCO2_ENST00000252785.3_Missense_Mutation_p.I226T	NM_001169109.1	NP_001162580.1	O43819	SCO2_HUMAN	SCO2 cytochrome c oxidase assembly protein	226	Thioredoxin.				cell redox homeostasis|cellular copper ion homeostasis|copper ion transport|oxidation-reduction process|respiratory chain complex IV assembly	mitochondrial inner membrane	copper ion binding			endometrium(1)|lung(1)	2		all_cancers(38;4.58e-14)|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)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GTAGATGGCAATGGAGTGGTC	0.587													66	130					0	0	1	0	0	G	50962164	A	G	50962164	3	3	149	1	0	0	0	0	1	0	0	0	13986	101	4	3	127	3	SCO2	22	50962164	Missense_Mutation	SNP	A	TCGA-DU-A7TB-01A-11D-A33T-08	29632149	50962164	342402	44	22624											
SETDB1	9869	broad.mit.edu	37	1	150934619	150934619	+	Missense_Mutation	SNP	G	G	A	rs148408413		TCGA-DU-A7TC-01A-21D-A34J-08	TCGA-DU-A7TC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680f3e13-d149-4785-b545-8acc85ae8a8d	2442dab3-2483-4124-aab0-e24aadf30f71	g.chr1:150934619G>A	ENST00000271640.5	+	17	3333	c.3143G>A	c.(3142-3144)cGa>cAa	p.R1048Q	SETDB1_ENST00000368969.4_Missense_Mutation_p.R1048Q	NM_001145415.1|NM_012432.3	NP_001138887.1|NP_036564.3	Q15047	SETB1_HUMAN	SET domain, bifurcated 1	1048	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|Golgi apparatus|nucleus|plasma membrane	DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding			NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)			ACTGACGACCGAAACAAGATG	0.443													4	220					0	0	1	0	0	A	150934619	G	A	150934619	3	1	150	1	0	0	0	0	1	0	0	0	14192	1058	37	1	3205	1	SETDB1	1	150934619	Missense_Mutation	SNP	G	TCGA-DU-A7TC-01A-21D-A34J-08		150934619	98316002	1	22625											
OBSCN	84033	broad.mit.edu	37	1	228476440	228476440	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A7TC-01A-21D-A34J-08	TCGA-DU-A7TC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680f3e13-d149-4785-b545-8acc85ae8a8d	2442dab3-2483-4124-aab0-e24aadf30f71	g.chr1:228476440G>A	ENST00000570156.2	+	43	11551	c.11477G>A	c.(11476-11478)cGt>cAt	p.R3826H	OBSCN_ENST00000359599.6_Missense_Mutation_p.R2244H|OBSCN_ENST00000366709.4_Missense_Mutation_p.R516H|OBSCN_ENST00000366707.4_Missense_Mutation_p.R516H|OBSCN_ENST00000284548.11_Missense_Mutation_p.R3397H|OBSCN_ENST00000422127.1_Missense_Mutation_p.R3397H	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	2863	Ig-like 39.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				AGGAAGGGGCGTGAGAGCCTC	0.622													32	73					0	0	1	0	0	A	228476440	G	A	228476440	3	1	150	1	0	0	0	0	1	0	0	0	10860	1145	40	1	10336	1	OBSCN	1	228476440	Missense_Mutation	SNP	G	TCGA-DU-A7TC-01A-21D-A34J-08	77541821	228476440	20774181	2	22626											
TFCP2L1	29842	broad.mit.edu	37	2	122004453	122004453	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A7TC-01A-21D-A34J-08	TCGA-DU-A7TC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680f3e13-d149-4785-b545-8acc85ae8a8d	2442dab3-2483-4124-aab0-e24aadf30f71	g.chr2:122004453C>T	ENST00000263707.5	-	6	695	c.598G>A	c.(598-600)Gag>Aag	p.E200K		NM_014553.2	NP_055368.1	Q9NZI6	TF2L1_HUMAN	transcription factor CP2-like 1	200					female pregnancy|steroid biosynthetic process	mitochondrion|nucleolus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	p.E200K(1)		cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1)|pancreas(2)|skin(1)|stomach(1)	22	Renal(3;0.01)					TCCCCATTCTCGTTCTGCTTA	0.587													43	61					0	0	1	0	0	T	122004453	C	T	122004453	3	4	150	1	0	0	0	0	1	0	0	0	15856	893	31	1	881	1	TFCP2L1	2	122004453	Missense_Mutation	SNP	C	TCGA-DU-A7TC-01A-21D-A34J-08		122004453	121194920	3	22627											
R3HDM1	23518	broad.mit.edu	37	2	136389573	136389573	+	Splice_Site	SNP	T	T	A			TCGA-DU-A7TC-01A-21D-A34J-08	TCGA-DU-A7TC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680f3e13-d149-4785-b545-8acc85ae8a8d	2442dab3-2483-4124-aab0-e24aadf30f71	g.chr2:136389573T>A	ENST00000264160.4	+	9	1068		c.e9+2		R3HDM1_ENST00000329971.3_Splice_Site|R3HDM1_ENST00000409606.1_Splice_Site|R3HDM1_ENST00000410054.1_Splice_Site|R3HDM1_ENST00000409478.1_Splice_Site	NM_001282798.1|NM_015361.2	NP_001269727.1|NP_056176.2	Q15032	R3HD1_HUMAN	R3H domain containing 1								nucleic acid binding			breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	38				BRCA - Breast invasive adenocarcinoma(221;0.127)		TACAAGAATGTAAGTGTCAAG	0.323													17	63					0	0	1	0	0	A	136389573	T	A	136389573	5	1	150	1	0	0	0	0	0	0	1	0	12939	1652	57	5	726	5	R3HDM1	2	136389573	Splice_Site	SNP	T	TCGA-DU-A7TC-01A-21D-A34J-08	14385120	136389573	106809800	4	22628											
TTN	7273	broad.mit.edu	37	2	179426430	179426430	+	Silent	SNP	A	A	T			TCGA-DU-A7TC-01A-21D-A34J-08	TCGA-DU-A7TC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680f3e13-d149-4785-b545-8acc85ae8a8d	2442dab3-2483-4124-aab0-e24aadf30f71	g.chr2:179426430A>T	ENST00000589042.1	-	326	84653	c.84429T>A	c.(84427-84429)tcT>tcA	p.S28143S	TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Silent_p.S19270S|TTN_ENST00000591111.1_Silent_p.S26502S|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000342992.6_Silent_p.S25575S|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Silent_p.S19203S|TTN_ENST00000460472.2_Silent_p.S19078S|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000591332.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	26502	Fibronectin type-III 105.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAACAGCTGAAGATTCACTGT	0.458													16	38					0	0	1	0	0	T	179426430	A	T	179426430	2	4	150	1	0	0	0	0	0	0	0	1	16797	59	3	5		5	TTN	2	179426430	Silent	SNP	A	TCGA-DU-A7TC-01A-21D-A34J-08	43036857	179426430	63772943	5	22629											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-DU-A7TC-01A-21D-A34J-08	TCGA-DU-A7TC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680f3e13-d149-4785-b545-8acc85ae8a8d	2442dab3-2483-4124-aab0-e24aadf30f71	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	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								31	68					0	0	1	0	0	T	209113112	C	T	209113112	3	4	150	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-DU-A7TC-01A-21D-A34J-08	29686682	209113112	34086261	6	22630											
COL7A1	1294	broad.mit.edu	37	3	48621040	48621040	+	Silent	SNP	A	A	G			TCGA-DU-A7TC-01A-21D-A34J-08	TCGA-DU-A7TC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680f3e13-d149-4785-b545-8acc85ae8a8d	2442dab3-2483-4124-aab0-e24aadf30f71	g.chr3:48621040A>G	ENST00000328333.8	-	40	4457	c.4350T>C	c.(4348-4350)tcT>tcC	p.S1450S	COL7A1_ENST00000454817.1_Silent_p.S1450S	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	1450	Interrupted collagenous region.|Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CTCCATCCTCAGAGTCACCCT	0.627													18	28					0	0	1	0	0	G	48621040	A	G	48621040	2	3	150	1	0	0	0	0	0	0	0	1	3727	175	7	3		3	COL7A1	3	48621040	Silent	SNP	A	TCGA-DU-A7TC-01A-21D-A34J-08		48621040	149401390	7	22631											
ARHGAP31	57514	broad.mit.edu	37	3	119112379	119112379	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-A7TC-01A-21D-A34J-08	TCGA-DU-A7TC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680f3e13-d149-4785-b545-8acc85ae8a8d	2442dab3-2483-4124-aab0-e24aadf30f71	g.chr3:119112379A>G	ENST00000264245.4	+	8	1479	c.947A>G	c.(946-948)gAc>gGc	p.D316G		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	316					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						TCTGGATCAGACTCCAAATCA	0.383													39	60					0	0	1	0	0	G	119112379	A	G	119112379	3	3	150	1	0	0	0	0	1	0	0	0	877	275	10	3	977	3	ARHGAP31	3	119112379	Missense_Mutation	SNP	A	TCGA-DU-A7TC-01A-21D-A34J-08	70491339	119112379	78910051	8	22632											
PAK2	5062	broad.mit.edu	37	3	196547347	196547347	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-A7TC-01A-21D-A34J-08	TCGA-DU-A7TC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680f3e13-d149-4785-b545-8acc85ae8a8d	2442dab3-2483-4124-aab0-e24aadf30f71	g.chr3:196547347A>G	ENST00000327134.3	+	13	1581	c.1259A>G	c.(1258-1260)tAt>tGt	p.Y420C		NM_002577.4	NP_002568.2	Q13177	PAK2_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 2	420	Protein kinase.				axon guidance|cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of protein kinase activity|peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of apoptosis|regulation of defense response to virus by virus|regulation of growth|T cell costimulation|T cell receptor signaling pathway|viral reproduction	cytosol|nucleus|perinuclear region of cytoplasm|plasma membrane	ATP binding|identical protein binding|protein kinase binding|protein serine/threonine kinase activity|protein tyrosine kinase activator activity			breast(1)|cervix(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	12	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.07e-23)|all cancers(36;6.38e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00405)		CGGAAAGCTTATGGCCCTAAA	0.498													17	86					0	0	1	0	0	G	196547347	A	G	196547347	3	3	150	1	0	0	0	0	1	0	0	0	11448	449	16	3	1305	3	PAK2	3	196547347	Missense_Mutation	SNP	A	TCGA-DU-A7TC-01A-21D-A34J-08	77434968	196547347	1475083	9	22633											
KIT	3815	broad.mit.edu	37	4	55593619	55593619	+	Missense_Mutation	SNP	A	A	G	rs121913510		TCGA-DU-A7TC-01A-21D-A34J-08	TCGA-DU-A7TC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680f3e13-d149-4785-b545-8acc85ae8a8d	2442dab3-2483-4124-aab0-e24aadf30f71	g.chr4:55593619A>G	ENST00000288135.5	+	11	1782	c.1685A>G	c.(1684-1686)gAg>gGg	p.E562G		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	562					male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular space|integral to membrane	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity	p.K558_E562del(10)|p.V560_L576del(4)|p.Y553_T574>S(3)|p.V559_G565del(3)|p.V555_I571del(3)|p.V555_P573del(3)|p.Q556_L576del(2)|p.W557_P573>S(2)|p.K558_N564del(2)|p.W557_Q575del(2)|p.V555_E562del(2)|p.V555_G565del(1)|p.Q556_N566>SNNLQLY(1)|p.V555_I563del(1)|p.E561_P577del(1)|p.E562_P573del(1)|p.K558_G565del(1)|p.E554_I571del(1)|p.K558_Q575del(1)|p.V555_Y570del(1)|p.V559_E562del(1)|p.M552_T574>TESA(1)|p.K558_G565>R(1)|p.V559_I571del(1)|p.Q556_D572>PS(1)|p.W557_E562del(1)|p.V555_N566>D(1)|p.V559_N564del(1)|p.E562V(1)|p.Q556_D572del(1)|p.K558_L576>NV(1)|p.V559_P573>A(1)|p.V560_I571del(1)|p.W557_I571del(1)|p.V559_L576del(1)|p.E554_N564del(1)|p.K558_D572del(1)|p.Q556_D572>H(1)|p.K558_Y570>N(1)|p.M552_D572del(1)|p.Q556_T574del(1)|p.Q556_P573del(1)|p.E554_D572del(1)|p.E554_E562del(1)		NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	GTTGTTGAGGAGATAAATGGA	0.378		1	"Mis, O"		"GIST, AML, TGCT, mastocytosis, mucosal melanoma"	"GIST, epithelioma"	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors				33	65					0	0	1	0	0	G	55593619	A	G	55593619	3	3	150	1	0	0	0	0	1	0	0	0	8372	304	11	3	1727	3	KIT	4	55593619	Missense_Mutation	SNP	A	TCGA-DU-A7TC-01A-21D-A34J-08		55593619	135560657	10	22634											
F2R	2149	broad.mit.edu	37	5	76028379	76028379	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-A7TC-01A-21D-A34J-08	TCGA-DU-A7TC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680f3e13-d149-4785-b545-8acc85ae8a8d	2442dab3-2483-4124-aab0-e24aadf30f71	g.chr5:76028379C>A	ENST00000319211.4	+	2	594	c.329C>A	c.(328-330)aCc>aAc	p.T110N		NM_001992.3	NP_001983.2	P25116	PAR1_HUMAN	coagulation factor II (thrombin) receptor	110					activation of caspase activity|anatomical structure morphogenesis|connective tissue replacement involved in inflammatory response wound healing|negative regulation of cell proliferation|platelet activation|positive regulation of blood coagulation|positive regulation of cell migration|positive regulation of collagen biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JAK-STAT cascade|positive regulation of MAPKKK cascade|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of transcription, DNA-dependent|STAT protein import into nucleus|tyrosine phosphorylation of STAT protein	caveola|extracellular region|Golgi apparatus|integral to plasma membrane|platelet dense tubular network	receptor binding|thrombin receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|lung(7)|ovary(3)	16		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Prostate(461;0.00955)|Ovarian(174;0.0129)		all cancers(79;4.43e-43)	Streptokinase(DB00086)	TCTGTGTACACCGGAGTGTTT	0.493													6	163					0.00198382	0.00202995	1	1	0	A	76028379	C	A	76028379	3	1	150	1	0	0	0	0	1	0	0	0	5371	507	18	5	335	5	F2R	5	76028379	Missense_Mutation	SNP	C	TCGA-DU-A7TC-01A-21D-A34J-08		76028379	104886881	11	22635											
DHX16	8449	broad.mit.edu	37	6	30624869	30624869	+	Splice_Site	SNP	C	C	A			TCGA-DU-A7TC-01A-21D-A34J-08	TCGA-DU-A7TC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680f3e13-d149-4785-b545-8acc85ae8a8d	2442dab3-2483-4124-aab0-e24aadf30f71	g.chr6:30624869C>A	ENST00000376442.3	-	13	2203	c.2008G>T	c.(2008-2010)Gtg>Ttg	p.V670L	DHX16_ENST00000376437.5_Splice_Site_p.V189L	NM_001164239.1|NM_003587.4	NP_001157711.1|NP_003578.2	O60231	DHX16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 16	670	Helicase C-terminal.				mRNA processing|RNA splicing	nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity			kidney(2)|ovary(2)	4						GCCACAACCACCTGAGTGATA	0.483													3	47					1	1	1	1	0	A	30624869	C	A	30624869	5	1	150	1	0	0	0	0	0	0	1	0	4530	521	18	5	1149	5	DHX16	6	30624869	Splice_Site	SNP	C	TCGA-DU-A7TC-01A-21D-A34J-08		30624869	140490198	12	22636											
PTK7	5754	broad.mit.edu	37	6	43128465	43128465	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-A7TC-01A-21D-A34J-08	TCGA-DU-A7TC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680f3e13-d149-4785-b545-8acc85ae8a8d	2442dab3-2483-4124-aab0-e24aadf30f71	g.chr6:43128465A>G	ENST00000230419.4	+	20	3280	c.3059A>G	c.(3058-3060)cAg>cGg	p.Q1020R	PTK7_ENST00000349241.2_Missense_Mutation_p.Q890R|PTK7_ENST00000352931.2_Missense_Mutation_p.Q964R|PTK7_ENST00000345201.2_Missense_Mutation_p.Q980R|PTK7_ENST00000481273.1_Missense_Mutation_p.Q1028R	NM_002821.4	NP_002812.2	Q13308	PTK7_HUMAN	protein tyrosine kinase 7	1020	Interaction with CTNNB1.|Protein kinase; inactive.				actin cytoskeleton reorganization|canonical Wnt receptor signaling pathway|cell adhesion|cell migration	cell-cell junction|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			ACAGATTTGCAGGCTGGGAAG	0.562													4	115					0	0	1	0	0	G	43128465	A	G	43128465	3	3	150	1	0	0	0	0	1	0	0	0	12815	188	7	3	3137	3	PTK7	6	43128465	Missense_Mutation	SNP	A	TCGA-DU-A7TC-01A-21D-A34J-08	12503596	43128465	127986602	13	22637											
SYNE1	23345	broad.mit.edu	37	6	152621853	152621853	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-A7TC-01A-21D-A34J-08	TCGA-DU-A7TC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680f3e13-d149-4785-b545-8acc85ae8a8d	2442dab3-2483-4124-aab0-e24aadf30f71	g.chr6:152621853T>C	ENST00000367255.5	-	93	18206	c.17605A>G	c.(17605-17607)Acc>Gcc	p.T5869A	SYNE1_ENST00000448038.1_Missense_Mutation_p.T5798A|SYNE1_ENST00000423061.1_Missense_Mutation_p.T5798A|SYNE1_ENST00000356820.4_Missense_Mutation_p.T393A|SYNE1_ENST00000265368.4_Missense_Mutation_p.T5869A|SYNE1_ENST00000341594.5_Missense_Mutation_p.T5481A	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	5869					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TCACTGTTGGTTCCCTCCTCC	0.527										HNSCC(10;0.0054)			4	23					0	0	1	0	0	C	152621853	T	C	152621853	3	2	150	1	0	0	0	0	1	0	0	0	15502	1725	60	3	9077	3	SYNE1	6	152621853	Missense_Mutation	SNP	T	TCGA-DU-A7TC-01A-21D-A34J-08	109493388	152621853	18493214	14	22638											
SMOC2	64094	broad.mit.edu	37	6	169053869	169053869	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A7TC-01A-21D-A34J-08	TCGA-DU-A7TC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680f3e13-d149-4785-b545-8acc85ae8a8d	2442dab3-2483-4124-aab0-e24aadf30f71	g.chr6:169053869G>A	ENST00000354536.5	+	11	1499	c.1279G>A	c.(1279-1281)Gcg>Acg	p.A427T	SMOC2_ENST00000356284.2_Missense_Mutation_p.A416T	NM_022138.2	NP_071421.1	Q9H3U7	SMOC2_HUMAN	SPARC related modular calcium binding 2	416					signal transduction	basement membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	32		Breast(66;0.000141)|Esophageal squamous(34;0.222)|Ovarian(120;0.231)		OV - Ovarian serous cystadenocarcinoma(33;1.31e-19)|BRCA - Breast invasive adenocarcinoma(81;3.06e-06)|GBM - Glioblastoma multiforme(31;0.00109)		CCTGGGCGTGGCGAAAGAGGA	0.532													7	60					0	0	1	0	0	A	169053869	G	A	169053869	3	1	150	1	0	0	0	0	1	0	0	0	14856	1203	42	2	1321	2	SMOC2	6	169053869	Missense_Mutation	SNP	G	TCGA-DU-A7TC-01A-21D-A34J-08	16432016	169053869	2061198	15	22639											
TRRAP	8295	broad.mit.edu	37	7	98575905	98575905	+	Silent	SNP	T	T	A			TCGA-DU-A7TC-01A-21D-A34J-08	TCGA-DU-A7TC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680f3e13-d149-4785-b545-8acc85ae8a8d	2442dab3-2483-4124-aab0-e24aadf30f71	g.chr7:98575905T>A	ENST00000359863.4	+	56	8645	c.8436T>A	c.(8434-8436)gcT>gcA	p.A2812A	TRRAP_ENST00000446306.3_Silent_p.A2794A|TRRAP_ENST00000355540.3_Silent_p.A2794A	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	2812	FAT.				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			CCTCCCCTGCTATTTTCCCTG	0.413													18	81					0	0	1	0	0	A	98575905	T	A	98575905	2	1	150	1	0	0	0	0	0	0	0	1	16662	1509	53	5		5	TRRAP	7	98575905	Silent	SNP	T	TCGA-DU-A7TC-01A-21D-A34J-08		98575905	60562758	16	22640											
SRRT	51593	broad.mit.edu	37	7	100484040	100484040	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A7TC-01A-21D-A34J-08	TCGA-DU-A7TC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680f3e13-d149-4785-b545-8acc85ae8a8d	2442dab3-2483-4124-aab0-e24aadf30f71	g.chr7:100484040C>T	ENST00000388793.4	+	13	1848	c.1628C>T	c.(1627-1629)aCg>aTg	p.T543M	SRRT_ENST00000347433.4_Missense_Mutation_p.T544M|SRRT_ENST00000457580.2_Missense_Mutation_p.T544M|SRRT_ENST00000432932.1_Missense_Mutation_p.T543M	NM_001128852.1|NM_015908.5	NP_001122324.1|NP_056992.4	Q9BXP5	SRRT_HUMAN	serrate RNA effector molecule homolog (Arabidopsis)	544					cell proliferation|primary miRNA processing|response to arsenic-containing substance	cytoplasm|nucleoplasm	protein binding	p.T544M(1)		breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						GAACCAGGGACGCCTCCCCTG	0.582													5	13					0	0	1	0	0	T	100484040	C	T	100484040	3	4	150	1	0	0	0	0	1	0	0	0	15228	536	19	1	1677	1	SRRT	7	100484040	Missense_Mutation	SNP	C	TCGA-DU-A7TC-01A-21D-A34J-08	1908135	100484040	58654623	17	22641											
ADAM32	203102	broad.mit.edu	37	8	39131835	39131835	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-A7TC-01A-21D-A34J-08	TCGA-DU-A7TC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680f3e13-d149-4785-b545-8acc85ae8a8d	2442dab3-2483-4124-aab0-e24aadf30f71	g.chr8:39131835A>G	ENST00000379907.4	+	21	2333	c.2206A>G	c.(2206-2208)Agc>Ggc	p.S736G	ADAM32_ENST00000524303.1_3'UTR|ADAM32_ENST00000519315.1_Intron|ADAM32_ENST00000437682.2_Missense_Mutation_p.S637G	NM_145004.5	NP_659441	Q8TC27	ADA32_HUMAN	ADAM metallopeptidase domain 32	736					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	31		all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503)	LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146)			TTTTAGATCCAGCTCAGAAGG	0.313													28	51					0	0	1	0	0	G	39131835	A	G	39131835	3	3	150	1	0	0	0	0	1	0	0	0	248	188	7	3	2288	3	ADAM32	8	39131835	Missense_Mutation	SNP	A	TCGA-DU-A7TC-01A-21D-A34J-08		39131835	107232187	18	22642											
PTGES	9536	broad.mit.edu	37	9	132501992	132501992	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DU-A7TC-01A-21D-A34J-08	TCGA-DU-A7TC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680f3e13-d149-4785-b545-8acc85ae8a8d	2442dab3-2483-4124-aab0-e24aadf30f71	g.chr9:132501992delC	ENST00000340607.4	-	3	391	c.357delG	c.(355-357)gggfs	p.G119fs	PTGES_ENST00000481476.1_5'UTR	NM_004878.4	NP_004869.1	O14684	PTGES_HUMAN	prostaglandin E synthase	119					prostaglandin biosynthetic process|signal transduction	integral to membrane|membrane fraction	glutathione binding|prostaglandin-E synthase activity			lung(1)|skin(1)	2		Ovarian(14;0.00556)				CCCGCAGCTTCCCCAGGTAGG	0.647													2	4	---	---	---	---						-	132501992	C	-	132501992	7	5	150	1	0	1	0	1	0	0	0	0	12796	842	30	0	105	0	PTGES	9	132501992	Frame_Shift_Del	DEL	C	TCGA-DU-A7TC-01A-21D-A34J-08		132501992	8711439	19	22643											
TRDMT1	1787	broad.mit.edu	37	10	17204166	17204166	+	Splice_Site	SNP	T	T	A			TCGA-DU-A7TC-01A-21D-A34J-08	TCGA-DU-A7TC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680f3e13-d149-4785-b545-8acc85ae8a8d	2442dab3-2483-4124-aab0-e24aadf30f71	g.chr10:17204166T>A	ENST00000377799.3	-	4	369	c.322A>T	c.(322-324)Aga>Tga	p.R108*	TRDMT1_ENST00000488990.1_Intron|TRDMT1_ENST00000351358.4_Intron|TRDMT1_ENST00000412821.3_Intron|TRDMT1_ENST00000377766.5_Intron|TRDMT1_ENST00000358282.7_Intron|TRDMT1_ENST00000452380.2_5'UTR|TRDMT1_ENST00000457442.2_Splice_Site_p.R49*	NM_004412.5	NP_004403.1	O14717	TRDMT_HUMAN	tRNA aspartic acid methyltransferase 1	108					tRNA processing	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|RNA binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(4)|ovary(1)|prostate(1)	18						AGTTTTTACCTTGGGAGAATA	0.368													6	199					0	0	1	0	0	A	17204166	T	A	17204166	5	1	150	1	0	0	0	0	0	0	1	0	16528	1623	56	5	885	5	TRDMT1	10	17204166	Splice_Site	SNP	T	TCGA-DU-A7TC-01A-21D-A34J-08		17204166	118330581	20	22644											
OR5T1	390155	broad.mit.edu	37	11	56043515	56043515	+	Missense_Mutation	SNP	G	G	A	rs140678740		TCGA-DU-A7TC-01A-21D-A34J-08	TCGA-DU-A7TC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680f3e13-d149-4785-b545-8acc85ae8a8d	2442dab3-2483-4124-aab0-e24aadf30f71	g.chr11:56043515G>A	ENST00000313033.2	+	1	487	c.401G>A	c.(400-402)cGc>cAc	p.R134H		NM_001004745.1	NP_001004745.1	Q8NG75	OR5T1_HUMAN	olfactory receptor, family 5, subfamily T, member 1	134					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(27)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	43	Esophageal squamous(21;0.00448)					GCTTATGATCGCTATGTAGCC	0.413													71	129					0	0	1	0	0	A	56043515	G	A	56043515	3	1	150	1	0	0	0	0	1	0	0	0	11228	1087	38	1	403	1	OR5T1	11	56043515	Missense_Mutation	SNP	G	TCGA-DU-A7TC-01A-21D-A34J-08		56043515	78963001	21	22645											
ANGPTL5	253935	broad.mit.edu	37	11	101762018	101762020	+	In_Frame_Del	DEL	AAT	AAT	-	rs143415747	byFrequency	TCGA-DU-A7TC-01A-21D-A34J-08	TCGA-DU-A7TC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680f3e13-d149-4785-b545-8acc85ae8a8d	2442dab3-2483-4124-aab0-e24aadf30f71	g.chr11:101762018_101762020delAAT	ENST00000334289.3	-	9	1752_1754	c.1157_1159delATT	c.(1156-1161)tatttt>ttt	p.Y386del		NM_178127.4	NP_835228.2	Q86XS5	ANGL5_HUMAN	angiopoietin-like 5	386					signal transduction	extracellular space	receptor binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(2)|skin(3)	29		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.043)		BRCA - Breast invasive adenocarcinoma(274;0.0328)		GATTATTTAAAATATGGATTGTA	0.276													23	45	---	---	---	---						-	101762020	AAT	-	101762018	7	5	150	1	0	1	0	1	0	0	0	0	613	14	1	0	11	0	ANGPTL5	11	101762018	In_Frame_Del	DEL	AAT	TCGA-DU-A7TC-01A-21D-A34J-08	45718503	101762018	33244498	22	22646											
ACRBP	84519	broad.mit.edu	37	12	6749667	6749667	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-A7TC-01A-21D-A34J-08	TCGA-DU-A7TC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680f3e13-d149-4785-b545-8acc85ae8a8d	2442dab3-2483-4124-aab0-e24aadf30f71	g.chr12:6749667G>A	ENST00000229243.2	-	7	1192	c.1099C>T	c.(1099-1101)Cga>Tga	p.R367*	ACRBP_ENST00000542357.1_5'UTR|ACRBP_ENST00000414226.2_Nonsense_Mutation_p.R334*	NM_032489.2	NP_115878.2	Q8NEB7	ACRBP_HUMAN	acrosin binding protein	367						acrosomal vesicle|extracellular region				NS(1)|breast(1)|central_nervous_system(1)|large_intestine(8)|lung(5)|ovary(1)	17						GACATGTGTCGCCGCCCAAGG	0.632													10	18					0	0	1	0	0	A	6749667	G	A	6749667	4	1	150	1	0	0	0	0	0	1	0	0	170	1095	38	1	548	1	ACRBP	12	6749667	Nonsense_Mutation	SNP	G	TCGA-DU-A7TC-01A-21D-A34J-08		6749667	127102228	23	22647											
LRP6	4040	broad.mit.edu	37	12	12291284	12291284	+	Silent	SNP	T	T	C			TCGA-DU-A7TC-01A-21D-A34J-08	TCGA-DU-A7TC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680f3e13-d149-4785-b545-8acc85ae8a8d	2442dab3-2483-4124-aab0-e24aadf30f71	g.chr12:12291284T>C	ENST00000261349.4	-	16	3658	c.3582A>G	c.(3580-3582)gtA>gtG	p.V1194V	LRP6_ENST00000543091.1_Silent_p.V1194V|BCL2L14_ENST00000396369.1_Intron	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	1194	Beta-propeller 4.				cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				TCAGCTCCTTTACTGCATGAA	0.358													87	102					0	0	1	0	0	C	12291284	T	C	12291284	2	2	150	1	0	0	0	0	0	0	0	1	9007	1741	61	3		3	LRP6	12	12291284	Silent	SNP	T	TCGA-DU-A7TC-01A-21D-A34J-08	5541617	12291284	121560611	24	22648											
KRT2	3849	broad.mit.edu	37	12	53045435	53045435	+	Silent	SNP	G	G	A			TCGA-DU-A7TC-01A-21D-A34J-08	TCGA-DU-A7TC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680f3e13-d149-4785-b545-8acc85ae8a8d	2442dab3-2483-4124-aab0-e24aadf30f71	g.chr12:53045435G>A	ENST00000309680.3	-	1	513	c.492C>T	c.(490-492)aaC>aaT	p.N164N		NM_000423.2	NP_000414.2	P35908	K22E_HUMAN	keratin 2	164	Head.				keratinization|keratinocyte activation|keratinocyte migration|keratinocyte proliferation	Golgi apparatus|keratin filament	protein binding|structural constituent of cytoskeleton			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32				BRCA - Breast invasive adenocarcinoma(357;0.19)		CAACTTTCACGTTGAGAGGCT	0.527													17	94					0	0	1	0	0	A	53045435	G	A	53045435	2	1	150	1	0	0	0	0	0	0	0	1	8500	1136	40	1		1	KRT2	12	53045435	Silent	SNP	G	TCGA-DU-A7TC-01A-21D-A34J-08	40754151	53045435	80806460	25	22649											
BTBD11	121551	broad.mit.edu	37	12	108004005	108004005	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A7TC-01A-21D-A34J-08	TCGA-DU-A7TC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680f3e13-d149-4785-b545-8acc85ae8a8d	2442dab3-2483-4124-aab0-e24aadf30f71	g.chr12:108004005C>T	ENST00000280758.5	+	5	2210	c.1682C>T	c.(1681-1683)gCg>gTg	p.A561V	BTBD11_ENST00000420571.2_Missense_Mutation_p.A561V|RP11-128P10.1_ENST00000548473.1_RNA|BTBD11_ENST00000357167.4_Missense_Mutation_p.A98V|BTBD11_ENST00000490090.2_Missense_Mutation_p.A561V	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11	561						integral to membrane	DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						AAGCTGGATGCGGTGGCCATC	0.582											OREG0022090	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	135					0	0	1	0	0	T	108004005	C	T	108004005	3	4	150	1	0	0	0	0	1	0	0	0	1541	768	27	1	1805	1	BTBD11	12	108004005	Missense_Mutation	SNP	C	TCGA-DU-A7TC-01A-21D-A34J-08	54958570	108004005	25847890	26	22650											
RBM19	9904	broad.mit.edu	37	12	114400045	114400045	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A7TC-01A-21D-A34J-08	TCGA-DU-A7TC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680f3e13-d149-4785-b545-8acc85ae8a8d	2442dab3-2483-4124-aab0-e24aadf30f71	g.chr12:114400045G>A	ENST00000545145.2	-	2	289	c.211C>T	c.(211-213)Cgg>Tgg	p.R71W	RBM19_ENST00000261741.5_Missense_Mutation_p.R71W|RBM19_ENST00000392561.3_Missense_Mutation_p.R71W	NM_001146699.1	NP_001140171.1	Q9Y4C8	RBM19_HUMAN	RNA binding motif protein 19	71	RRM 1.				multicellular organismal development|positive regulation of embryonic development	chromosome|cytoplasm|nucleolus|nucleoplasm	nucleotide binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4)	55	Medulloblastoma(191;0.163)|all_neural(191;0.178)					ACTGTGATCCGGGATGTGTCG	0.493													13	97					0	0	1	0	0	A	114400045	G	A	114400045	3	1	150	1	0	0	0	0	1	0	0	0	13173	1115	39	1	2763	1	RBM19	12	114400045	Missense_Mutation	SNP	G	TCGA-DU-A7TC-01A-21D-A34J-08	6396040	114400045	19451850	27	22651											
NBEA	26960	broad.mit.edu	37	13	35683539	35683539	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-A7TC-01A-21D-A34J-08	TCGA-DU-A7TC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680f3e13-d149-4785-b545-8acc85ae8a8d	2442dab3-2483-4124-aab0-e24aadf30f71	g.chr13:35683539T>G	ENST00000400445.3	+	12	2327	c.1793T>G	c.(1792-1794)aTt>aGt	p.I598S	NBEA_ENST00000540320.1_Missense_Mutation_p.I598S|NBEA_ENST00000379939.2_Missense_Mutation_p.I598S|NBEA_ENST00000310336.4_Missense_Mutation_p.I598S	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	598						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		TGTGATCACATTTTATTTAAC	0.348													3	69					0	0	1	0	0	G	35683539	T	G	35683539	3	3	150	1	0	0	0	0	1	0	0	0	10235	1493	52	4	1839	4	NBEA	13	35683539	Missense_Mutation	SNP	T	TCGA-DU-A7TC-01A-21D-A34J-08		35683539	79486339	28	22652											
TTBK2	146057	broad.mit.edu	37	15	43038236	43038244	+	In_Frame_Del	DEL	AGACGTGCG	AGACGTGCG	-			TCGA-DU-A7TC-01A-21D-A34J-08	TCGA-DU-A7TC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680f3e13-d149-4785-b545-8acc85ae8a8d	2442dab3-2483-4124-aab0-e24aadf30f71	g.chr15:43038236_43038244delAGACGTGCG	ENST00000267890.6	-	15	3592_3600	c.3484_3492delCGCACGTCT	c.(3484-3492)cgcacgtctdel	p.RTS1162del		NM_173500.3	NP_775771.3	Q6IQ55	TTBK2_HUMAN	tau tubulin kinase 2	1162	Ser-rich.				cell death		ATP binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;3.23e-07)		GTGAGGAACTAGACGTGCGAGGCAAGGAT	0.574													9	86	---	---	---	---						-	43038244	AGACGTGCG	-	43038236	7	5	150	1	0	1	0	1	0	0	0	0	16739	407	15	0	246	0	TTBK2	15	43038236	In_Frame_Del	DEL	AGACGTGCG	TCGA-DU-A7TC-01A-21D-A34J-08		43038236	59493156	29	22653											
CKMT1B	1159	broad.mit.edu	37	15	43890406	43890406	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-A7TC-01A-21D-A34J-08	TCGA-DU-A7TC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680f3e13-d149-4785-b545-8acc85ae8a8d	2442dab3-2483-4124-aab0-e24aadf30f71	g.chr15:43890406C>G	ENST00000300283.6	+	8	1284	c.892C>G	c.(892-894)Caa>Gaa	p.Q298E	CKMT1B_ENST00000441322.1_Missense_Mutation_p.Q298E	NM_020990.3	NP_066270.1	P12532	KCRU_HUMAN	creatine kinase, mitochondrial 1B	298	Phosphagen kinase C-terminal.				creatine metabolic process	mitochondrial inner membrane	ATP binding|creatine kinase activity			large_intestine(1)|lung(3)|skin(1)	5		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)	Creatine(DB00148)	GAGACTTATCCAAGAACGTGG	0.483													37	204					0	0	1	0	0	G	43890406	C	G	43890406	3	3	150	1	0	0	0	0	1	0	0	0	3473	595	21	5	918	5	CKMT1B	15	43890406	Missense_Mutation	SNP	C	TCGA-DU-A7TC-01A-21D-A34J-08	852170	43890406	58640986	30	22654			1	14		2	2	21	C		2.325798e-05
CKMT1B	1159	broad.mit.edu	37	15	43890426	43890426	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-A7TC-01A-21D-A34J-08	TCGA-DU-A7TC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680f3e13-d149-4785-b545-8acc85ae8a8d	2442dab3-2483-4124-aab0-e24aadf30f71	g.chr15:43890426C>G	ENST00000300283.6	+	8	1304	c.912C>G	c.(910-912)ttC>ttG	p.F304L	CKMT1B_ENST00000441322.1_Missense_Mutation_p.F304L	NM_020990.3	NP_066270.1	P12532	KCRU_HUMAN	creatine kinase, mitochondrial 1B	304	Phosphagen kinase C-terminal.				creatine metabolic process	mitochondrial inner membrane	ATP binding|creatine kinase activity			large_intestine(1)|lung(3)|skin(1)	5		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)	Creatine(DB00148)	GCTGGGAGTTCATGTGGAATG	0.488													34	195					0	0	1	0	0	G	43890426	C	G	43890426	3	3	150	1	0	0	0	0	1	0	0	0	3473	825	29	5	938	5	CKMT1B	15	43890426	Missense_Mutation	SNP	C	TCGA-DU-A7TC-01A-21D-A34J-08	20	43890426	58640966	31	22655			1	14		2	2	21	C		2.325798e-05
TP53	7157	broad.mit.edu	37	17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	rs121913343		TCGA-DU-A7TC-01A-21D-A34J-08	TCGA-DU-A7TC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680f3e13-d149-4785-b545-8acc85ae8a8d	2442dab3-2483-4124-aab0-e24aadf30f71	g.chr17:7577121G>A	ENST00000420246.2	-	8	949	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000269305.4_Missense_Mutation_p.R273C|TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000359597.4_Missense_Mutation_p.R273C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	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).		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.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			20	10					0	0	1	0	0	A	7577121	G	A	7577121	3	1	150	1	0	0	0	0	1	0	0	0	16442	1087	38	1	469	1	TP53	17	7577121	Missense_Mutation	SNP	G	TCGA-DU-A7TC-01A-21D-A34J-08		7577121	73618089	32	22656											
AXIN2	8313	broad.mit.edu	37	17	63533510	63533510	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DU-A7TC-01A-21D-A34J-08	TCGA-DU-A7TC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680f3e13-d149-4785-b545-8acc85ae8a8d	2442dab3-2483-4124-aab0-e24aadf30f71	g.chr17:63533510delC	ENST00000307078.5	-	6	1957	c.1644delG	c.(1642-1644)gagfs	p.E548fs	AXIN2_ENST00000375702.5_Frame_Shift_Del_p.E548fs	NM_004655.3	NP_004646.3	Q9Y2T1	AXIN2_HUMAN	axin 2	548					cellular protein localization|cellular response to organic cyclic compound|dorsal/ventral axis specification|intramembranous ossification|maintenance of DNA repeat elements|mRNA stabilization|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of cell proliferation|negative regulation of osteoblast differentiation|odontogenesis|positive regulation of cell death|positive regulation of epithelial to mesenchymal transition|positive regulation of protein phosphorylation|regulation of centromeric sister chromatid cohesion|regulation of mismatch repair|Wnt receptor signaling pathway involved in somitogenesis	Axin-APC-beta-catenin-GSK3B complex|cell cortex|centrosome|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|nucleus|plasma membrane|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	34						AGCAGTAATACTCGCTGCCCC	0.617									Oligodontia, Ectodermal Dysplasia and Colorectal Polyp syndrome				52	101	---	---	---	---						-	63533510	C	-	63533510	7	5	150	1	0	1	0	1	0	0	0	0	1235	564	20	0	911	0	AXIN2	17	63533510	Frame_Shift_Del	DEL	C	TCGA-DU-A7TC-01A-21D-A34J-08	55956389	63533510	17661700	33	22657											
ABCA7	10347	broad.mit.edu	37	19	1053504	1053504	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A7TC-01A-21D-A34J-08	TCGA-DU-A7TC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680f3e13-d149-4785-b545-8acc85ae8a8d	2442dab3-2483-4124-aab0-e24aadf30f71	g.chr19:1053504G>A	ENST00000263094.6	+	24	3628	c.3397G>A	c.(3397-3399)Ggg>Agg	p.G1133R	ABCA7_ENST00000435683.2_Missense_Mutation_p.G995R|ABCA7_ENST00000433129.1_Missense_Mutation_p.G1133R	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	1133					phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity			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)		CACTGGCTACGGGATCTCCGA	0.647													5	7					0	0	1	0	0	A	1053504	G	A	1053504	3	1	150	1	0	0	0	0	1	0	0	0	37	1116	39	1	3487	1	ABCA7	19	1053504	Missense_Mutation	SNP	G	TCGA-DU-A7TC-01A-21D-A34J-08		1053504	58075479	34	22658											
ETFB	2109	broad.mit.edu	37	19	51853591	51853591	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DU-A7TC-01A-21D-A34J-08	TCGA-DU-A7TC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680f3e13-d149-4785-b545-8acc85ae8a8d	2442dab3-2483-4124-aab0-e24aadf30f71	g.chr19:51853591delA	ENST00000354232.4	-	3	3170	c.703delT	c.(703-705)tggfs	p.W235fs	CTD-2616J11.9_ENST00000600974.1_RNA|ETFB_ENST00000309244.4_Frame_Shift_Del_p.W144fs	NM_001014763.1	NP_001014763.1	P38117	ETFB_HUMAN	electron-transfer-flavoprotein, beta polypeptide	144					respiratory electron transport chain|transport	mitochondrial matrix	electron carrier activity			kidney(2)|large_intestine(1)|lung(3)	6		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000226)|OV - Ovarian serous cystadenocarcinoma(262;0.00661)		ACCTGTGGCCAGTCAAGAAAT	0.527													15	12	---	---	---	---						-	51853591	A	-	51853591	7	5	150	1	0	1	0	1	0	0	0	0	5298	188	7	0	349	0	ETFB	19	51853591	Frame_Shift_Del	DEL	A	TCGA-DU-A7TC-01A-21D-A34J-08	50800087	51853591	7275392	35	22659											
SSTR3	6753	broad.mit.edu	37	22	37603631	37603631	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A7TC-01A-21D-A34J-08	TCGA-DU-A7TC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680f3e13-d149-4785-b545-8acc85ae8a8d	2442dab3-2483-4124-aab0-e24aadf30f71	g.chr22:37603631C>T	ENST00000328544.3	-	2	745	c.212G>A	c.(211-213)cGg>cAg	p.R71Q	SSTR3_ENST00000402501.1_Missense_Mutation_p.R71Q	NM_001051.3	NP_001042.1	P32745	SSR3_HUMAN	somatostatin receptor 3	71					G-protein signaling, coupled to cyclic nucleotide second messenger|induction of apoptosis by hormones|negative regulation of cell proliferation	integral to plasma membrane|nonmotile primary cilium	somatostatin receptor activity			NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)	14						GGCCGTGTGCCGCAGGACCAC	0.647													15	79					0	0	1	0	0	T	37603631	C	T	37603631	3	4	150	1	0	0	0	0	1	0	0	0	15255	652	23	1	1048	1	SSTR3	22	37603631	Missense_Mutation	SNP	C	TCGA-DU-A7TC-01A-21D-A34J-08		37603631	13700935	36	22660											
KIF1B	23095	broad.mit.edu	37	1	10436617	10436617	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A7TD-01A-12D-A34A-08	TCGA-DU-A7TD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9d0fdcb-9c40-4469-8aae-d7386c5237b1	ae422b79-6294-442d-a3a5-e631922ed41f	g.chr1:10436617G>A	ENST00000377086.1	+	49	5625	c.5423G>A	c.(5422-5424)cGc>cAc	p.R1808H	KIF1B_ENST00000263934.6_Missense_Mutation_p.R1762H|KIF1B_ENST00000377081.1_Intron			O60333	KIF1B_HUMAN	kinesin family member 1B	1808					anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		AAGCTTTCCCGCAGATGCCCG	0.527													63	108					0	0	1	0	0	A	10436617	G	A	10436617	3	1	151	1	0	0	0	0	1	0	0	0	8326	1087	38	1	6956	1	KIF1B	1	10436617	Missense_Mutation	SNP	G	TCGA-DU-A7TD-01A-12D-A34A-08		10436617	238814004	1	22661											
RPS6KA1	6195	broad.mit.edu	37	1	26888117	26888117	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DU-A7TD-01A-12D-A34A-08	TCGA-DU-A7TD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9d0fdcb-9c40-4469-8aae-d7386c5237b1	ae422b79-6294-442d-a3a5-e631922ed41f	g.chr1:26888117delC	ENST00000374168.2	+	17	1707	c.1553delC	c.(1552-1554)accfs	p.T518fs	RPS6KA1_ENST00000526792.1_Frame_Shift_Del_p.T426fs|RPS6KA1_ENST00000530003.1_Frame_Shift_Del_p.T502fs|RPS6KA1_ENST00000531382.1_Frame_Shift_Del_p.T527fs|RPS6KA1_ENST00000374166.4_Frame_Shift_Del_p.T507fs|RPS6KA1_ENST00000374162.2_Frame_Shift_Del_p.T426fs	NM_002953.3	NP_002944.2	Q15418	KS6A1_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 1	518	Protein kinase 2.				axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|caspase inhibitor activity|magnesium ion binding|protein binding|protein serine/threonine kinase activity			lung(1)	1		all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234)		GTCCTGCACACCATTGGCAAA	0.567													27	61	---	---	---	---						-	26888117	C	-	26888117	7	5	151	1	0	1	0	1	0	0	0	0	13702	507	18	0	1758	0	RPS6KA1	1	26888117	Frame_Shift_Del	DEL	C	TCGA-DU-A7TD-01A-12D-A34A-08	16451500	26888117	222362504	2	22662											
EXTL2	2135	broad.mit.edu	37	1	101343089	101343089	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-A7TD-01A-12D-A34A-08	TCGA-DU-A7TD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9d0fdcb-9c40-4469-8aae-d7386c5237b1	ae422b79-6294-442d-a3a5-e631922ed41f	g.chr1:101343089G>T	ENST00000370114.3	-	3	1812	c.376C>A	c.(376-378)Cag>Aag	p.Q126K	EXTL2_ENST00000535414.1_Missense_Mutation_p.Q113K|EXTL2_ENST00000370113.3_Missense_Mutation_p.Q126K	NM_001033025.2|NM_001261440.1	NP_001028197.1|NP_001248369.1	Q9UBQ6	EXTL2_HUMAN	exostosin-like glycosyltransferase 2	126					N-acetylglucosamine metabolic process|UDP-N-acetylgalactosamine metabolic process	extracellular region|integral to membrane|intrinsic to endoplasmic reticulum membrane	alpha-1,4-N-acetylgalactosaminyltransferase activity|glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|skin(1)|urinary_tract(1)	14		all_epithelial(167;2.48e-06)|all_lung(203;0.000414)|Lung NSC(277;0.000946)		Epithelial(280;0.0425)|all cancers(265;0.0628)|COAD - Colon adenocarcinoma(174;0.148)|Colorectal(144;0.167)|Lung(183;0.195)		TTTGCTGTCTGTTGTTTGAAG	0.473													56	49					3.76997e-23	4.18231e-23	1	1	0	T	101343089	G	T	101343089	3	4	151	1	0	0	0	0	1	0	0	0	5354	1386	48	5	628	5	EXTL2	1	101343089	Missense_Mutation	SNP	G	TCGA-DU-A7TD-01A-12D-A34A-08	74454972	101343089	147907532	3	22663											
RORC	6097	broad.mit.edu	37	1	151780081	151780081	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-A7TD-01A-12D-A34A-08	TCGA-DU-A7TD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9d0fdcb-9c40-4469-8aae-d7386c5237b1	ae422b79-6294-442d-a3a5-e631922ed41f	g.chr1:151780081A>T	ENST00000356728.6	-	10	1515	c.1361T>A	c.(1360-1362)cTg>cAg	p.L454Q	RORC_ENST00000318247.6_Missense_Mutation_p.L475Q|RORC_ENST00000392697.3_Missense_Mutation_p.L529Q|RORC_ENST00000480719.1_5'UTR	NM_001001523.1	NP_001001523.1	P51449	RORG_HUMAN	RAR-related orphan receptor C	475	Ligand-binding.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(1)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			CTGGCTACACAGGCTCCGAAG	0.557													3	65					0	0	1	0	0	T	151780081	A	T	151780081	3	4	151	1	0	0	0	0	1	0	0	0	13582	188	7	5	136	5	RORC	1	151780081	Missense_Mutation	SNP	A	TCGA-DU-A7TD-01A-12D-A34A-08	50436992	151780081	97470540	4	22664											
HRNR	388697	broad.mit.edu	37	1	152187734	152187734	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-A7TD-01A-12D-A34A-08	TCGA-DU-A7TD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9d0fdcb-9c40-4469-8aae-d7386c5237b1	ae422b79-6294-442d-a3a5-e631922ed41f	g.chr1:152187734C>A	ENST00000368801.2	-	3	6446	c.6371G>T	c.(6370-6372)gGg>gTg	p.G2124V	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	2124					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGAGCCAGACCCATGCTGACT	0.562													50	651					2.6711e-34	3.01029e-34	1	1	0	A	152187734	C	A	152187734	3	1	151	1	0	0	0	0	1	0	0	0	7400	623	22	5	2185	5	HRNR	1	152187734	Missense_Mutation	SNP	C	TCGA-DU-A7TD-01A-12D-A34A-08	407653	152187734	97062887	5	22665											
CD1E	913	broad.mit.edu	37	1	158324331	158324331	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A7TD-01A-12D-A34A-08	TCGA-DU-A7TD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9d0fdcb-9c40-4469-8aae-d7386c5237b1	ae422b79-6294-442d-a3a5-e631922ed41f	g.chr1:158324331C>T	ENST00000368160.3	+	2	223	c.223C>T	c.(223-225)Cgc>Tgc	p.R75C	CD1E_ENST00000452291.2_Intron|CD1E_ENST00000444681.2_Intron|CD1E_ENST00000464822.1_Intron|CD1E_ENST00000368165.3_Missense_Mutation_p.R75C|CD1E_ENST00000368163.3_Missense_Mutation_p.R75C|CD1E_ENST00000368154.1_Intron|CD1E_ENST00000368164.3_Intron|CD1E_ENST00000368161.3_Missense_Mutation_p.R75C|CD1E_ENST00000368157.1_Intron|CD1E_ENST00000368166.3_Intron|CD1E_ENST00000434258.1_Missense_Mutation_p.R73C|CD1E_ENST00000368155.3_Missense_Mutation_p.R75C|CD1E_ENST00000368156.1_Missense_Mutation_p.R75C|CD1E_ENST00000368167.3_Missense_Mutation_p.R75C	NM_001042583.2	NP_001036048.1	P15812	CD1E_HUMAN	CD1e molecule	75					antigen processing and presentation|immune response	early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen				breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					GGGCACCATCCGCTTTCTGAA	0.512													20	38					0	0	1	0	0	T	158324331	C	T	158324331	3	4	151	1	0	0	0	0	1	0	0	0	3000	652	23	1	229	1	CD1E	1	158324331	Missense_Mutation	SNP	C	TCGA-DU-A7TD-01A-12D-A34A-08	6136597	158324331	90926290	6	22666											
ZC3H11A	9877	broad.mit.edu	37	1	203819140	203819140	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DU-A7TD-01A-12D-A34A-08	TCGA-DU-A7TD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9d0fdcb-9c40-4469-8aae-d7386c5237b1	ae422b79-6294-442d-a3a5-e631922ed41f	g.chr1:203819140delA	ENST00000545588.1	+	14	5752	c.1925delA	c.(1924-1926)gaafs	p.E642fs	ZC3H11A_ENST00000367212.3_Frame_Shift_Del_p.E642fs|ZC3H11A_ENST00000332127.4_Frame_Shift_Del_p.E642fs|ZC3H11A_ENST00000367214.1_Frame_Shift_Del_p.E642fs|ZC3H11A_ENST00000367210.1_Frame_Shift_Del_p.E642fs	NM_001271675.1	NP_001258604.1	O75152	ZC11A_HUMAN	zinc finger CCCH-type containing 11A	642							nucleic acid binding|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32	all_cancers(21;0.0904)|all_epithelial(62;0.234)		BRCA - Breast invasive adenocarcinoma(75;0.109)			CAGACCTTGGAAAAAAGGGGT	0.418													9	2129	---	---	---	---						-	203819140	A	-	203819140	7	5	151	1	0	1	0	1	0	0	0	0	17619	246	9	0	1975	0	ZC3H11A	1	203819140	Frame_Shift_Del	DEL	A	TCGA-DU-A7TD-01A-12D-A34A-08	45494809	203819140	45431481	7	22667											
SOX13	9580	broad.mit.edu	37	1	204085764	204085766	+	In_Frame_Del	DEL	AGC	AGC	-			TCGA-DU-A7TD-01A-12D-A34A-08	TCGA-DU-A7TD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9d0fdcb-9c40-4469-8aae-d7386c5237b1	ae422b79-6294-442d-a3a5-e631922ed41f	g.chr1:204085764_204085766delAGC	ENST00000367204.1	+	5	657_659	c.548_550delAGC	c.(547-552)aagcag>aag	p.Q187del	SOX13_ENST00000367203.4_3'UTR	NM_005686.2	NP_005677.2	Q9UN79	SOX13_HUMAN	SRY (sex determining region Y)-box 13	187	Gln-rich.				anatomical structure morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)	13	all_cancers(21;0.0754)|Breast(84;0.116)|all_epithelial(62;0.189)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)			CTGTTTGAGAAGCAGCAGCAGCA	0.576													12	2107	---	---	---	---						-	204085766	AGC	-	204085764	7	5	151	1	0	1	0	1	0	0	0	0	14998	72	3	0	562	0	SOX13	1	204085764	In_Frame_Del	DEL	AGC	TCGA-DU-A7TD-01A-12D-A34A-08	266624	204085764	45164857	8	22668											
REN	5972	broad.mit.edu	37	1	204135375	204135377	+	In_Frame_Del	DEL	AGC	AGC	-	rs142739309		TCGA-DU-A7TD-01A-12D-A34A-08	TCGA-DU-A7TD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9d0fdcb-9c40-4469-8aae-d7386c5237b1	ae422b79-6294-442d-a3a5-e631922ed41f	g.chr1:204135375_204135377delAGC	ENST00000367195.2	-	1	88_90	c.45_47delGCT	c.(43-48)ctgctc>ctc	p.15_16LL>L	REN_ENST00000272190.8_In_Frame_Del_p.15_16LL>L			P00797	RENI_HUMAN	renin	15					angiotensin maturation|regulation of MAPKKK cascade	extracellular space|membrane	aspartic-type endopeptidase activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(4)|urinary_tract(1)	19	all_cancers(21;0.00965)|Breast(84;0.116)|all_epithelial(62;0.157)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)		Aliskiren(DB01258)|Remikiren(DB00212)	GGAGCCCCAGAGCAGCAGCAGCA	0.581													18	2105	---	---	---	---						-	204135377	AGC	-	204135375	7	5	151	1	0	1	0	1	0	0	0	0	13276	304	11	0	1213	0	REN	1	204135375	In_Frame_Del	DEL	AGC	TCGA-DU-A7TD-01A-12D-A34A-08	49611	204135375	45115246	9	22669											
OR11L1	391189	broad.mit.edu	37	1	248005188	248005188	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-A7TD-01A-12D-A34A-08	TCGA-DU-A7TD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9d0fdcb-9c40-4469-8aae-d7386c5237b1	ae422b79-6294-442d-a3a5-e631922ed41f	g.chr1:248005188T>C	ENST00000355784.2	-	1	66	c.11A>G	c.(10-12)cAa>cGa	p.Q4R		NM_001001959.1	NP_001001959.1	Q8NGX0	O11L1_HUMAN	olfactory receptor, family 11, subfamily L, member 1	4					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GGAGGTATTTTGGGGCTCCAT	0.458													14	30					0	0	1	0	0	C	248005188	T	C	248005188	3	2	151	1	0	0	0	0	1	0	0	0	10978	1812	63	3	961	3	OR11L1	1	248005188	Missense_Mutation	SNP	T	TCGA-DU-A7TD-01A-12D-A34A-08	43869813	248005188	1245433	10	22670											
FAM179A	165186	broad.mit.edu	37	2	29259478	29259478	+	Silent	SNP	C	C	T	rs140272239	byFrequency	TCGA-DU-A7TD-01A-12D-A34A-08	TCGA-DU-A7TD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9d0fdcb-9c40-4469-8aae-d7386c5237b1	ae422b79-6294-442d-a3a5-e631922ed41f	g.chr2:29259478C>T	ENST00000379558.4	+	18	2841	c.2490C>T	c.(2488-2490)ttC>ttT	p.F830F	FAM179A_ENST00000465300.1_3'UTR|FAM179A_ENST00000403861.2_Silent_p.F775F	NM_199280.2	NP_954974.2	Q6ZUX3	F179A_HUMAN	family with sequence similarity 179, member A	830							binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						TGGAGTCCTTCGCCAAGATGA	0.498													34	52					0	0	1	0	0	T	29259478	C	T	29259478	2	4	151	1	0	0	0	0	0	0	0	1	5535	883	31	1		1	FAM179A	2	29259478	Silent	SNP	C	TCGA-DU-A7TD-01A-12D-A34A-08		29259478	213939895	11	22671											
VPS54	51542	broad.mit.edu	37	2	64193065	64193065	+	Silent	SNP	G	G	T			TCGA-DU-A7TD-01A-12D-A34A-08	TCGA-DU-A7TD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9d0fdcb-9c40-4469-8aae-d7386c5237b1	ae422b79-6294-442d-a3a5-e631922ed41f	g.chr2:64193065G>T	ENST00000409558.4	-	6	646	c.492C>A	c.(490-492)tcC>tcA	p.S164S	VPS54_ENST00000272322.4_Silent_p.S176S|VPS54_ENST00000354504.3_Silent_p.S59S	NM_001005739.1|NM_016516.2	NP_001005739.1|NP_057600.2	Q9P1Q0	VPS54_HUMAN	vacuolar protein sorting 54 homolog (S. cerevisiae)						protein transport|retrograde transport, endosome to Golgi					endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	27						TAAAAGTTAAGGAATCATCCA	0.313													37	26					1.30998e-17	1.38819e-17	1	1	0	T	64193065	G	T	64193065	2	4	151	1	0	0	0	0	0	0	0	1	17276	987	35	4		4	VPS54	2	64193065	Silent	SNP	G	TCGA-DU-A7TD-01A-12D-A34A-08	34933587	64193065	179006308	12	22672											
IL18RAP	8807	broad.mit.edu	37	2	103040545	103040545	+	Silent	SNP	C	C	T			TCGA-DU-A7TD-01A-12D-A34A-08	TCGA-DU-A7TD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9d0fdcb-9c40-4469-8aae-d7386c5237b1	ae422b79-6294-442d-a3a5-e631922ed41f	g.chr2:103040545C>T	ENST00000264260.2	+	4	934	c.345C>T	c.(343-345)acC>acT	p.T115T	IL18RAP_ENST00000409369.1_Intron	NM_003853.2	NP_003844.1	O95256	I18RA_HUMAN	interleukin 18 receptor accessory protein	115					cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						ACTTTTTGACCCCAGGGGTGA	0.373													35	56					0	0	1	0	0	T	103040545	C	T	103040545	2	4	151	1	0	0	0	0	0	0	0	1	7692	610	22	2		2	IL18RAP	2	103040545	Silent	SNP	C	TCGA-DU-A7TD-01A-12D-A34A-08	38847480	103040545	140158828	13	22673											
TNP1	7141	broad.mit.edu	37	2	217724630	217724630	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A7TD-01A-12D-A34A-08	TCGA-DU-A7TD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9d0fdcb-9c40-4469-8aae-d7386c5237b1	ae422b79-6294-442d-a3a5-e631922ed41f	g.chr2:217724630C>T	ENST00000236979.2	-	1	157	c.128G>A	c.(127-129)cGg>cAg	p.R43Q	AC007563.5_ENST00000447289.1_RNA	NM_003284.3	NP_003275.1	P09430	STP1_HUMAN	transition protein 1 (during histone to protamine replacement)	43					chromatin silencing|fertilization, exchange of chromosomal proteins|multicellular organismal development|nucleosome disassembly|single strand break repair|sperm motility|spermatid nucleus elongation	nucleosome	DNA binding			large_intestine(1)|lung(1)|stomach(1)	3		Renal(207;0.0822)		Epithelial(149;8.97e-07)|all cancers(144;2.46e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GTCATCGCCCCGTTTCCTACT	0.557													43	87					0	0	1	0	0	T	217724630	C	T	217724630	3	4	151	1	0	0	0	0	1	0	0	0	16393	652	23	1	47	1	TNP1	2	217724630	Missense_Mutation	SNP	C	TCGA-DU-A7TD-01A-12D-A34A-08	114684085	217724630	25474743	14	22674											
OR6B3	150681	broad.mit.edu	37	2	240985194	240985194	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A7TD-01A-12D-A34A-08	TCGA-DU-A7TD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9d0fdcb-9c40-4469-8aae-d7386c5237b1	ae422b79-6294-442d-a3a5-e631922ed41f	g.chr2:240985194G>A	ENST00000319423.4	-	1	295	c.296C>T	c.(295-297)aCg>aTg	p.T99M		NM_173351.1	NP_775486.1	Q8NGW1	OR6B3_HUMAN	olfactory receptor, family 6, subfamily B, member 3	99					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(10)|lung(4)|ovary(2)|prostate(1)	18		all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;1.05e-29)|all cancers(36;3.52e-28)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)|Colorectal(34;0.019)|COAD - Colon adenocarcinoma(134;0.141)		GTAGAGCTGCGTCATGCACCC	0.582													23	28					0	0	1	0	0	A	240985194	G	A	240985194	3	1	151	1	0	0	0	0	1	0	0	0	11236	1145	40	1	702	1	OR6B3	2	240985194	Missense_Mutation	SNP	G	TCGA-DU-A7TD-01A-12D-A34A-08	23260564	240985194	2214179	15	22675											
SNED1	25992	broad.mit.edu	37	2	241992689	241992689	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A7TD-01A-12D-A34A-08	TCGA-DU-A7TD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9d0fdcb-9c40-4469-8aae-d7386c5237b1	ae422b79-6294-442d-a3a5-e631922ed41f	g.chr2:241992689C>T	ENST00000310397.8	+	16	2203	c.2203C>T	c.(2203-2205)Cgc>Tgc	p.R735C	SNED1_ENST00000342631.6_Missense_Mutation_p.R735C|SNED1_ENST00000405547.3_Missense_Mutation_p.R735C|AC005237.4_ENST00000458377.1_RNA|SNED1_ENST00000469006.1_3'UTR|SNED1_ENST00000401884.1_Missense_Mutation_p.R735C	NM_001080437.1	NP_001073906.1	Q8TER0	SNED1_HUMAN	sushi, nidogen and EGF-like domains 1	735	Sushi.				cell-matrix adhesion	extracellular region	calcium ion binding			NS(1)|breast(1)|central_nervous_system(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	24		all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109)		CGCCCCCAGCCGCATCCGGGT	0.687													35	57					0	0	1	0	0	T	241992689	C	T	241992689	3	4	151	1	0	0	0	0	1	0	0	0	14899	652	23	1	2265	1	SNED1	2	241992689	Missense_Mutation	SNP	C	TCGA-DU-A7TD-01A-12D-A34A-08	1007495	241992689	1206684	16	22676											
ABHD5	51099	broad.mit.edu	37	3	43759313	43759313	+	Silent	SNP	C	C	T			TCGA-DU-A7TD-01A-12D-A34A-08	TCGA-DU-A7TD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9d0fdcb-9c40-4469-8aae-d7386c5237b1	ae422b79-6294-442d-a3a5-e631922ed41f	g.chr3:43759313C>T	ENST00000458276.2	+	6	1047	c.924C>T	c.(922-924)atC>atT	p.I308I	ABHD5_ENST00000463153.1_3'UTR	NM_016006.4	NP_057090.2	Q8WTS1	ABHD5_HUMAN	abhydrolase domain containing 5	308					cell differentiation|fatty acid metabolic process|negative regulation of sequestering of triglyceride|phosphatidic acid biosynthetic process|positive regulation of triglyceride catabolic process|triglyceride catabolic process	cytosol|lipid particle	1-acylglycerol-3-phosphate O-acyltransferase activity|lysophosphatidic acid acyltransferase activity			kidney(3)|large_intestine(2)|liver(2)|lung(5)|ovary(1)|skin(1)	14		Renal(3;0.0134)		KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0687)		GCACCAGCATCCAGTCCTTAC	0.453													10	93					0	0	1	0	0	T	43759313	C	T	43759313	2	4	151	1	0	0	0	0	0	0	0	1	85	845	30	2		2	ABHD5	3	43759313	Silent	SNP	C	TCGA-DU-A7TD-01A-12D-A34A-08		43759313	154263117	17	22677											
GNAT1	2779	broad.mit.edu	37	3	50229245	50229245	+	Silent	SNP	C	C	T			TCGA-DU-A7TD-01A-12D-A34A-08	TCGA-DU-A7TD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9d0fdcb-9c40-4469-8aae-d7386c5237b1	ae422b79-6294-442d-a3a5-e631922ed41f	g.chr3:50229245C>T	ENST00000232461.3	+	1	201	c.87C>T	c.(85-87)acC>acT	p.T29T	GNAT1_ENST00000433068.1_Silent_p.T29T	NM_144499.2	NP_653082.1	P11488	GNAT1_HUMAN	guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 1	29					detection of chemical stimulus involved in sensory perception of bitter taste|G-protein signaling, coupled to cAMP nucleotide second messenger|negative regulation of cyclic-nucleotide phosphodiesterase activity|rhodopsin mediated phototransduction|sensory perception of umami taste	heterotrimeric G-protein complex|photoreceptor inner segment|photoreceptor outer segment membrane	acyl binding|G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GDP binding|GTP binding|GTPase activity|protein kinase binding|signal transducer activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		ATGCTCGAACCGTGAAGCTGC	0.622													12	25					0	0	1	0	0	T	50229245	C	T	50229245	2	4	151	1	0	0	0	0	0	0	0	1	6553	639	23	1		1	GNAT1	3	50229245	Silent	SNP	C	TCGA-DU-A7TD-01A-12D-A34A-08	6469932	50229245	147793185	18	22678											
REEP2	51308	broad.mit.edu	37	5	137781255	137781255	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A7TD-01A-12D-A34A-08	TCGA-DU-A7TD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9d0fdcb-9c40-4469-8aae-d7386c5237b1	ae422b79-6294-442d-a3a5-e631922ed41f	g.chr5:137781255G>A	ENST00000378339.2	+	7	856	c.664G>A	c.(664-666)Gcc>Acc	p.A222T	REEP2_ENST00000506158.1_Missense_Mutation_p.A182T|REEP2_ENST00000254901.5_Missense_Mutation_p.A220T	NM_001271803.1	NP_001258732.1	Q9BRK0	REEP2_HUMAN	receptor accessory protein 2	220						integral to membrane				endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			TCCCAAGAGGGCCAAACCCAT	0.597													3	42					0	0	1	0	0	A	137781255	G	A	137781255	3	1	151	1	0	0	0	0	1	0	0	0	13257	1203	42	2	684	2	REEP2	5	137781255	Missense_Mutation	SNP	G	TCGA-DU-A7TD-01A-12D-A34A-08		137781255	43134005	19	22679											
PCDHGB7	56099	broad.mit.edu	37	5	140797577	140797577	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A7TD-01A-12D-A34A-08	TCGA-DU-A7TD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9d0fdcb-9c40-4469-8aae-d7386c5237b1	ae422b79-6294-442d-a3a5-e631922ed41f	g.chr5:140797577G>A	ENST00000398594.2	+	1	151	c.151G>A	c.(151-153)Gct>Act	p.A51T	PCDHGA5_ENST00000518069.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA8_ENST00000398604.2_Intron	NM_018927.3	NP_061750.1														central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(13)|lung(15)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(3)	56			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGGAACCTCGCTAAGGATCT	0.607											OREG0016863	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	20	35					0	0	1	0	0	A	140797577	G	A	140797577	3	1	151	1	0	0	0	0	1	0	0	0	11615	1087	38	1	153	1	PCDHGB7	5	140797577	Missense_Mutation	SNP	G	TCGA-DU-A7TD-01A-12D-A34A-08	3016322	140797577	40117683	20	22680											
CAGE1	285782	broad.mit.edu	37	6	7373751	7373751	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A7TD-01A-12D-A34A-08	TCGA-DU-A7TD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9d0fdcb-9c40-4469-8aae-d7386c5237b1	ae422b79-6294-442d-a3a5-e631922ed41f	g.chr6:7373751G>A	ENST00000502583.1	-	5	1865	c.1301C>T	c.(1300-1302)tCt>tTt	p.S434F	CAGE1_ENST00000338150.4_Missense_Mutation_p.S434F|CAGE1_ENST00000512086.1_Missense_Mutation_p.S434F|CAGE1_ENST00000296742.7_Missense_Mutation_p.S298F|CAGE1_ENST00000379918.4_Missense_Mutation_p.S434F	NM_001170692.1	NP_001164163.1	Q8TC20	CAGE1_HUMAN	cancer antigen 1	434										breast(1)|cervix(1)|endometrium(3)|kidney(2)|lung(11)|urinary_tract(1)	19	Ovarian(93;0.0418)					CTGACTTACAGATTTATTTTT	0.343													16	43					0	0	1	0	0	A	7373751	G	A	7373751	3	1	151	1	0	0	0	0	1	0	0	0	2590	942	33	2	1364	2	CAGE1	6	7373751	Missense_Mutation	SNP	G	TCGA-DU-A7TD-01A-12D-A34A-08		7373751	163741316	21	22681											
SOBP	55084	broad.mit.edu	37	6	107955460	107955461	+	Frame_Shift_Ins	INS	-	-	C			TCGA-DU-A7TD-01A-12D-A34A-08	TCGA-DU-A7TD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9d0fdcb-9c40-4469-8aae-d7386c5237b1	ae422b79-6294-442d-a3a5-e631922ed41f	g.chr6:107955460_107955461insC	ENST00000317357.5	+	6	2071_2072	c.1412_1413insC	c.(1411-1416)aaccccfs	p.NP471fs		NM_018013.3	NP_060483.3	A7XYQ1	SOBP_HUMAN	sine oculis binding protein homolog (Drosophila)	471	Pro-rich.						metal ion binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	26		all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156)		BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154)		ATGCCCGGGAACCCCCCAGGCC	0.733													2	4	---	---	---	---						C	107955461	-	C	107955460	7	5	151	1	0	1	1	0	0	0	0	0	14966	43	2	0	1434	0	SOBP	6	107955460	Frame_Shift_Ins	INS	-	TCGA-DU-A7TD-01A-12D-A34A-08	100581709	107955460	63159607	22	22682											
VTA1	51534	broad.mit.edu	37	6	142519682	142519682	+	Silent	SNP	T	T	C			TCGA-DU-A7TD-01A-12D-A34A-08	TCGA-DU-A7TD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9d0fdcb-9c40-4469-8aae-d7386c5237b1	ae422b79-6294-442d-a3a5-e631922ed41f	g.chr6:142519682T>C	ENST00000367630.4	+	6	685	c.627T>C	c.(625-627)taT>taC	p.Y209Y	VTA1_ENST00000452973.2_Silent_p.Y151Y|VTA1_ENST00000367621.1_Silent_p.Y151Y|VTA1_ENST00000491881.1_3'UTR	NM_016485.3	NP_057569.2	Q9NP79	VTA1_HUMAN	vesicle (multivesicular body) trafficking 1	209	Interaction with VPS4B (By similarity).				cellular membrane organization|endosome transport|protein transport	cytosol|endosome membrane	protein binding			endometrium(2)|large_intestine(1)|lung(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	Breast(32;0.155)			OV - Ovarian serous cystadenocarcinoma(155;1.34e-05)|GBM - Glioblastoma multiforme(68;0.00182)		CAGGCAACTATACTGGAATAC	0.473													22	35					0	0	1	0	0	C	142519682	T	C	142519682	2	2	151	1	0	0	0	0	0	0	0	1	17293	1413	49	3		3	VTA1	6	142519682	Silent	SNP	T	TCGA-DU-A7TD-01A-12D-A34A-08	34564222	142519682	28595385	23	22683											
ADCYAP1R1	117	broad.mit.edu	37	7	31146176	31146176	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-A7TD-01A-12D-A34A-08	TCGA-DU-A7TD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9d0fdcb-9c40-4469-8aae-d7386c5237b1	ae422b79-6294-442d-a3a5-e631922ed41f	g.chr7:31146176A>C	ENST00000304166.4	+	16	1574	c.1285A>C	c.(1285-1287)Aag>Cag	p.K429Q	ADCYAP1R1_ENST00000409489.1_Missense_Mutation_p.K485Q|ADCYAP1R1_ENST00000396211.2_Missense_Mutation_p.K457Q|ADCYAP1R1_ENST00000409363.1_Missense_Mutation_p.K408Q	NM_001118.4|NM_001199635.1|NM_001199636.1	NP_001109.2|NP_001186564.1|NP_001186565.1	P41586	PACR_HUMAN	adenylate cyclase activating polypeptide 1 (pituitary) receptor type I	429					activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|spermatogenesis	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity			endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1)	35						TGTGGACTTCAAGCACCGACA	0.587													17	72					0	0	1	0	0	C	31146176	A	C	31146176	3	2	151	1	0	0	0	0	1	0	0	0	302	131	5	5	1343	5	ADCYAP1R1	7	31146176	Missense_Mutation	SNP	A	TCGA-DU-A7TD-01A-12D-A34A-08		31146176	127992487	24	22684											
EGFR	1956	broad.mit.edu	37	7	55221783	55221783	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-A7TD-01A-12D-A34A-08	TCGA-DU-A7TD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9d0fdcb-9c40-4469-8aae-d7386c5237b1	ae422b79-6294-442d-a3a5-e631922ed41f	g.chr7:55221783A>T	ENST00000275493.2	+	7	1004	c.827A>T	c.(826-828)cAg>cTg	p.Q276L	EGFR_ENST00000442591.1_Missense_Mutation_p.Q276L|EGFR_ENST00000420316.2_Missense_Mutation_p.Q276L|EGFR_ENST00000344576.2_Missense_Mutation_p.Q276L|EGFR_ENST00000454757.2_Missense_Mutation_p.Q223L|EGFR_ENST00000455089.1_Missense_Mutation_p.Q231L|EGFR_ENST00000342916.3_Missense_Mutation_p.Q276L	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	276					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	ACCACGTACCAGATGGATGTG	0.587		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			2308	76					0	0	1	0	0	T	55221783	A	T	55221783	3	4	151	1	0	0	0	0	1	0	0	0	4993	188	7	5	853	5	EGFR	7	55221783	Missense_Mutation	SNP	A	TCGA-DU-A7TD-01A-12D-A34A-08	24075607	55221783	103916880	25	22685											
PCLO	27445	broad.mit.edu	37	7	82532025	82532025	+	Silent	SNP	G	G	A			TCGA-DU-A7TD-01A-12D-A34A-08	TCGA-DU-A7TD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9d0fdcb-9c40-4469-8aae-d7386c5237b1	ae422b79-6294-442d-a3a5-e631922ed41f	g.chr7:82532025G>A	ENST00000333891.9	-	9	13807	c.13470C>T	c.(13468-13470)taC>taT	p.Y4490Y	PCLO_ENST00000423517.2_Silent_p.Y4490Y	NM_033026.5	NP_149015.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein						cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GAGGAAAGATGTAGTGCATAG	0.299													38	116					0	0	1	0	0	A	82532025	G	A	82532025	2	1	151	1	0	0	0	0	0	0	0	1	11630	1372	48	2		2	PCLO	7	82532025	Silent	SNP	G	TCGA-DU-A7TD-01A-12D-A34A-08	27310242	82532025	76606638	26	22686											
PEX1	5189	broad.mit.edu	37	7	92151417	92151417	+	Splice_Site	SNP	T	T	C			TCGA-DU-A7TD-01A-12D-A34A-08	TCGA-DU-A7TD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9d0fdcb-9c40-4469-8aae-d7386c5237b1	ae422b79-6294-442d-a3a5-e631922ed41f	g.chr7:92151417T>C	ENST00000248633.4	-	2	367	c.272A>G	c.(271-273)cAg>cGg	p.Q91R	PEX1_ENST00000438045.1_Splice_Site_p.Q91R|PEX1_ENST00000428214.1_Splice_Site_p.Q91R	NM_000466.2	NP_000457.1	O43933	PEX1_HUMAN	peroxisomal biogenesis factor 1	91					microtubule-based peroxisome localization|protein import into peroxisome matrix	cytosol|nucleus|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			TGTGCTTACCTGTCCCCCATT	0.353													56	244					0	0	1	0	0	C	92151417	T	C	92151417	5	2	151	1	0	0	0	0	0	0	1	0	11783	1594	55	3	3671	3	PEX1	7	92151417	Splice_Site	SNP	T	TCGA-DU-A7TD-01A-12D-A34A-08	9619392	92151417	66987246	27	22687											
FOXP2	93986	broad.mit.edu	37	7	114270016	114270018	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-DU-A7TD-01A-12D-A34A-08	TCGA-DU-A7TD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9d0fdcb-9c40-4469-8aae-d7386c5237b1	ae422b79-6294-442d-a3a5-e631922ed41f	g.chr7:114270016_114270018delCAG	ENST00000393500.3	+	11	1148_1150	c.328_330delCAG	c.(328-330)cagdel	p.Q116del	FOXP2_ENST00000393489.3_In_Frame_Del_p.Q99del|FOXP2_ENST00000408937.3_In_Frame_Del_p.Q216del|FOXP2_ENST00000390668.3_In_Frame_Del_p.Q215del|FOXP2_ENST00000360232.4_In_Frame_Del_p.Q191del|FOXP2_ENST00000403559.4_In_Frame_Del_p.Q208del|FOXP2_ENST00000378237.3_In_Frame_Del_p.Q191del|FOXP2_ENST00000393491.3_In_Frame_Del_p.Q99del|FOXP2_ENST00000393494.2_In_Frame_Del_p.Q191del|FOXP2_ENST00000393498.2_In_Frame_Del_p.Q171del|FOXP2_ENST00000350908.4_In_Frame_Del_p.Q191del			O15409	FOXP2_HUMAN	forkhead box P2	191	Gln-rich.				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding	p.Q210Q(2)		breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						gcagcagcaacagcagcagcagc	0.507													7	145	---	---	---	---						-	114270018	CAG	-	114270016	7	5	151	1	0	1	0	1	0	0	0	0	6061	479	17	0	701	0	FOXP2	7	114270016	In_Frame_Del	DEL	CAG	TCGA-DU-A7TD-01A-12D-A34A-08	22118599	114270016	44868647	28	22688											
GIMAP8	155038	broad.mit.edu	37	7	150171183	150171183	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A7TD-01A-12D-A34A-08	TCGA-DU-A7TD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9d0fdcb-9c40-4469-8aae-d7386c5237b1	ae422b79-6294-442d-a3a5-e631922ed41f	g.chr7:150171183C>T	ENST00000307271.3	+	4	1340	c.766C>T	c.(766-768)Cgc>Tgc	p.R256C		NM_175571.2	NP_783161.1	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	256						endoplasmic reticulum|Golgi apparatus|mitochondrion	GTP binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		TGTGGGGAAACGCGGTGCTGG	0.557													21	77					0	0	1	0	0	T	150171183	C	T	150171183	3	4	151	1	0	0	0	0	1	0	0	0	6427	536	19	1	776	1	GIMAP8	7	150171183	Missense_Mutation	SNP	C	TCGA-DU-A7TD-01A-12D-A34A-08	35901167	150171183	8967480	29	22689											
HEY1	23462	broad.mit.edu	37	8	80677812	80677812	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A7TD-01A-12D-A34A-08	TCGA-DU-A7TD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9d0fdcb-9c40-4469-8aae-d7386c5237b1	ae422b79-6294-442d-a3a5-e631922ed41f	g.chr8:80677812C>T	ENST00000337919.5	-	5	731	c.538G>A	c.(538-540)Gga>Aga	p.G180R	HEY1_ENST00000435063.2_5'UTR|HEY1_ENST00000523976.1_Missense_Mutation_p.G86R|HEY1_ENST00000354724.3_Missense_Mutation_p.G176R	NM_001040708.1	NP_001035798.1	Q9Y5J3	HEY1_HUMAN	hes-related family bHLH transcription factor with YRPW motif 1	176					angiogenesis|negative regulation of Notch signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|Notch signaling pathway|transcription, DNA-dependent	nucleus	DNA binding|protein binding		HEY1/NCOA2(10)	cervix(1)|kidney(2)|large_intestine(5)|lung(14)	22	all_lung(9;5.1e-05)		Epithelial(68;0.076)|all cancers(69;0.179)			GGAATGTGTCCGAGGCCCGCG	0.667			T	NCOA2	mesenchymal chondrosarcoma						OREG0018837	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	21	41					0	0	1	0	0	T	80677812	C	T	80677812	3	4	151	1	0	0	0	0	1	0	0	0	7119	661	23	1	392	1	HEY1	8	80677812	Missense_Mutation	SNP	C	TCGA-DU-A7TD-01A-12D-A34A-08		80677812	65686210	30	22690											
PTEN	5728	broad.mit.edu	37	10	89720875	89720875	+	Splice_Site	SNP	G	G	A			TCGA-DU-A7TD-01A-12D-A34A-08	TCGA-DU-A7TD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9d0fdcb-9c40-4469-8aae-d7386c5237b1	ae422b79-6294-442d-a3a5-e631922ed41f	g.chr10:89720875G>A	ENST00000371953.3	+	8	2383	c.1026G>A	c.(1024-1026)aaG>aaA	p.K342K	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	342	C2 tensin-type.		K -> N (in CD; reduced phosphatase activity towards Ins(1,3,4,5)P4 but PtdIns(3,4,5)P3 phosphatase activity is similar to wild-type).		activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.R55fs*1(5)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.K342N(2)|p.G165_*404del(1)|p.D326_K342del(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		CAAATTTTAAGGTCAGTTAAA	0.328		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			43	19					0	0	1	0	0	A	89720875	G	A	89720875	5	1	151	1	0	0	0	0	0	0	1	0	12787	1014	35	2	1056	2	PTEN	10	89720875	Splice_Site	SNP	G	TCGA-DU-A7TD-01A-12D-A34A-08		89720875	45813872	31	22691											
CTSD	1509	broad.mit.edu	37	11	1776220	1776220	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-A7TD-01A-12D-A34A-08	TCGA-DU-A7TD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9d0fdcb-9c40-4469-8aae-d7386c5237b1	ae422b79-6294-442d-a3a5-e631922ed41f	g.chr11:1776220C>A	ENST00000236671.2	-	6	875	c.743G>T	c.(742-744)gGt>gTt	p.G248V	RP11-295K3.1_ENST00000427721.1_Missense_Mutation_p.V119L	NM_001909.4	NP_001900.1	P07339	CATD_HUMAN	cathepsin D	248					cell death|proteolysis	extracellular space|lysosome|melanosome	aspartic-type endopeptidase activity			endometrium(1)|large_intestine(4)|lung(8)	13		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GTCTGTGCCACCCAGCATCAG	0.597													44	59					8.86878e-18	9.54066e-18	1	1	0	A	1776220	C	A	1776220	3	1	151	1	0	0	0	0	1	0	0	0	4056	507	18	5	511	5	CTSD	11	1776220	Missense_Mutation	SNP	C	TCGA-DU-A7TD-01A-12D-A34A-08		1776220	133230296	32	22692											
PTPN5	84867	broad.mit.edu	37	11	18765712	18765712	+	Silent	SNP	G	G	A			TCGA-DU-A7TD-01A-12D-A34A-08	TCGA-DU-A7TD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9d0fdcb-9c40-4469-8aae-d7386c5237b1	ae422b79-6294-442d-a3a5-e631922ed41f	g.chr11:18765712G>A	ENST00000396170.1	-	4	1396	c.132C>T	c.(130-132)gaC>gaT	p.D44D	PTPN5_ENST00000396171.4_Silent_p.D44D|PTPN5_ENST00000358540.2_Silent_p.D44D|PTPN5_ENST00000396167.2_Silent_p.D44D|PTPN5_ENST00000496201.2_5'UTR|PTPN5_ENST00000396168.1_Silent_p.D20D	NM_001278236.1	NP_001265165.1	P54829	PTN5_HUMAN	protein tyrosine phosphatase, non-receptor type 5 (striatum-enriched)	44						integral to membrane	phosphotyrosine binding|protein tyrosine phosphatase activity	p.D44E(2)		breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(4)	27						CTTCAGCCTCGTCCAGTGCCT	0.672													60	75					0	0	1	0	0	A	18765712	G	A	18765712	2	1	151	1	0	0	0	0	0	0	0	1	12843	1136	40	1		1	PTPN5	11	18765712	Silent	SNP	G	TCGA-DU-A7TD-01A-12D-A34A-08	16989492	18765712	116240804	33	22693											
GANAB	23193	broad.mit.edu	37	11	62406923	62406923	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A7TD-01A-12D-A34A-08	TCGA-DU-A7TD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9d0fdcb-9c40-4469-8aae-d7386c5237b1	ae422b79-6294-442d-a3a5-e631922ed41f	g.chr11:62406923G>A	ENST00000346178.4	-	3	175	c.160C>T	c.(160-162)Cgg>Tgg	p.R54W	GANAB_ENST00000540933.1_Intron|GANAB_ENST00000356638.3_Missense_Mutation_p.R54W|GANAB_ENST00000534779.1_Intron|GANAB_ENST00000534422.1_5'UTR	NM_001278192.1|NM_198335.2	NP_001265121.1|NP_938149.2	Q14697	GANAB_HUMAN	glucosidase, alpha; neutral AB	54					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|Golgi apparatus|melanosome	carbohydrate binding|glucan 1,3-alpha-glucosidase activity|protein binding			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3)	35						AGGCCTGGCCGTATGCTTCTC	0.547													3	52					0	0	1	0	0	A	62406923	G	A	62406923	3	1	151	1	0	0	0	0	1	0	0	0	6273	1144	40	1	2832	1	GANAB	11	62406923	Missense_Mutation	SNP	G	TCGA-DU-A7TD-01A-12D-A34A-08	43641211	62406923	72599593	34	22694											
TSGA10IP	254187	broad.mit.edu	37	11	65726678	65726678	+	RNA	SNP	C	C	T			TCGA-DU-A7TD-01A-12D-A34A-08	TCGA-DU-A7TD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9d0fdcb-9c40-4469-8aae-d7386c5237b1	ae422b79-6294-442d-a3a5-e631922ed41f	g.chr11:65726678C>T	ENST00000608857.1	+	0	1440				TSGA10IP_ENST00000532620.1_RNA	NM_152762.2	NP_689975.2	Q3SY00	T10IP_HUMAN	testis specific, 10 interacting protein											endometrium(2)|kidney(3)|lung(9)	14						CCCGGCTCACCGTCACTCGGC	0.652													9	6					0	0	1	0	0	T	65726678	C	T	65726678	1	4	151	0	1	0	0	0	0	0	0	0	16679	639	23	1		1	TSGA10IP	11	65726678	RNA	SNP	C	TCGA-DU-A7TD-01A-12D-A34A-08	3319755	65726678	69279838	35	22695											
AMOTL1	154810	broad.mit.edu	37	11	94533071	94533071	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A7TD-01A-12D-A34A-08	TCGA-DU-A7TD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9d0fdcb-9c40-4469-8aae-d7386c5237b1	ae422b79-6294-442d-a3a5-e631922ed41f	g.chr11:94533071G>A	ENST00000433060.2	+	3	856	c.715G>A	c.(715-717)Gcc>Acc	p.A239T	AMOTL1_ENST00000317829.8_Missense_Mutation_p.A189T|AMOTL1_ENST00000317837.9_Missense_Mutation_p.A239T	NM_130847.2	NP_570899.1	Q8IY63	AMOL1_HUMAN	angiomotin like 1	239						cytoplasm|tight junction	identical protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	36		Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824)				TGTGAACCGTGCCAACAGTGG	0.627													9	22					0	0	1	0	0	A	94533071	G	A	94533071	3	1	151	1	0	0	0	0	1	0	0	0	579	1319	46	2	725	2	AMOTL1	11	94533071	Missense_Mutation	SNP	G	TCGA-DU-A7TD-01A-12D-A34A-08	28806393	94533071	40473445	36	22696											
SLCO1B1	10599	broad.mit.edu	37	12	21331948	21331948	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A7TD-01A-12D-A34A-08	TCGA-DU-A7TD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9d0fdcb-9c40-4469-8aae-d7386c5237b1	ae422b79-6294-442d-a3a5-e631922ed41f	g.chr12:21331948G>A	ENST00000256958.2	+	7	817	c.721G>A	c.(721-723)Gat>Aat	p.D241N		NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family, member 1B1	241			D -> N.		bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)	TGGATATGTAGATCTAAGTAA	0.338													53	72					0	0	1	0	0	A	21331948	G	A	21331948	3	1	151	1	0	0	0	0	1	0	0	0	14778	942	33	2	743	2	SLCO1B1	12	21331948	Missense_Mutation	SNP	G	TCGA-DU-A7TD-01A-12D-A34A-08		21331948	112519947	37	22697											
ACACB	32	broad.mit.edu	37	12	109644574	109644574	+	Silent	SNP	A	A	G			TCGA-DU-A7TD-01A-12D-A34A-08	TCGA-DU-A7TD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9d0fdcb-9c40-4469-8aae-d7386c5237b1	ae422b79-6294-442d-a3a5-e631922ed41f	g.chr12:109644574A>G	ENST00000338432.7	+	20	3092	c.2973A>G	c.(2971-2973)aaA>aaG	p.K991K	ACACB_ENST00000377848.3_Silent_p.K991K|ACACB_ENST00000377854.5_Silent_p.K991K			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	991					acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	TCGGAGAGAAACTGCACCAGG	0.522													61	103					0	0	1	0	0	G	109644574	A	G	109644574	2	3	151	1	0	0	0	0	0	0	0	1	107	40	2	3		3	ACACB	12	109644574	Silent	SNP	A	TCGA-DU-A7TD-01A-12D-A34A-08	88312626	109644574	24207321	38	22698											
CIT	11113	broad.mit.edu	37	12	120152022	120152022	+	Missense_Mutation	SNP	C	C	T	rs140614337		TCGA-DU-A7TD-01A-12D-A34A-08	TCGA-DU-A7TD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9d0fdcb-9c40-4469-8aae-d7386c5237b1	ae422b79-6294-442d-a3a5-e631922ed41f	g.chr12:120152022C>T	ENST00000392521.2	-	33	4341	c.4286G>A	c.(4285-4287)cGc>cAc	p.R1429H	CIT_ENST00000537607.1_5'UTR|CIT_ENST00000261833.7_Missense_Mutation_p.R1387H	NM_001206999.1	NP_001193928.1	O14578	CTRO_HUMAN	citron (rho-interacting, serine/threonine kinase 21)	1387					intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		GGATGCCTGGCGTCCAAAGTG	0.488													25	30					0	0	1	0	0	T	120152022	C	T	120152022	3	4	151	1	0	0	0	0	1	0	0	0	3461	768	27	1	1987	1	CIT	12	120152022	Missense_Mutation	SNP	C	TCGA-DU-A7TD-01A-12D-A34A-08	10507448	120152022	13699873	39	22699											
DLK1	8788	broad.mit.edu	37	14	101201221	101201221	+	Silent	SNP	C	C	T			TCGA-DU-A7TD-01A-12D-A34A-08	TCGA-DU-A7TD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9d0fdcb-9c40-4469-8aae-d7386c5237b1	ae422b79-6294-442d-a3a5-e631922ed41f	g.chr14:101201221C>T	ENST00000341267.4	+	5	1382	c.1140C>T	c.(1138-1140)gaC>gaT	p.D380D	DLK1_ENST00000331224.6_Silent_p.D307D	NM_003836.5	NP_003827	P80370	DLK1_HUMAN	delta-like 1 homolog (Drosophila)	380					multicellular organismal development	extracellular space|integral to membrane|soluble fraction		p.D380D(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(16)|ovary(2)|prostate(1)|skin(1)	29		Melanoma(154;0.155)				AGGCCGGCGACGAGGAGATCT	0.547													23	51					0	0	1	0	0	T	101201221	C	T	101201221	2	4	151	1	0	0	0	0	0	0	0	1	4592	535	19	1		1	DLK1	14	101201221	Silent	SNP	C	TCGA-DU-A7TD-01A-12D-A34A-08		101201221	6148319	40	22700											
STRC	161497	broad.mit.edu	37	15	43893668	43893668	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-A7TD-01A-12D-A34A-08	TCGA-DU-A7TD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9d0fdcb-9c40-4469-8aae-d7386c5237b1	ae422b79-6294-442d-a3a5-e631922ed41f	g.chr15:43893668G>T	ENST00000450892.2	-	24	4704	c.4627C>A	c.(4627-4629)Cta>Ata	p.L1543I	STRC_ENST00000541030.1_Missense_Mutation_p.L770I	NM_153700.2	NP_714544.1	Q7RTU9	STRC_HUMAN	stereocilin	1543					sensory perception of sound	cell surface				skin(4)	4		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)		AGCTCCTGTAGTTCCCGATCT	0.567													39	63					2.95478e-19	3.22753e-19	1	1	0	T	43893668	G	T	43893668	3	4	151	1	0	0	0	0	1	0	0	0	15384	1020	36	4	724	4	STRC	15	43893668	Missense_Mutation	SNP	G	TCGA-DU-A7TD-01A-12D-A34A-08		43893668	58637724	41	22701											
SLC28A2	9153	broad.mit.edu	37	15	45559948	45559948	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A7TD-01A-12D-A34A-08	TCGA-DU-A7TD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9d0fdcb-9c40-4469-8aae-d7386c5237b1	ae422b79-6294-442d-a3a5-e631922ed41f	g.chr15:45559948G>A	ENST00000347644.3	+	12	1218	c.1153G>A	c.(1153-1155)Gag>Aag	p.E385K	CTD-2651B20.3_ENST00000561404.1_RNA|CTD-2651B20.3_ENST00000560344.1_RNA	NM_004212.3	NP_004203.2	O43868	S28A2_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 2	385			E -> K.		nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding|nucleoside:sodium symporter activity|purine nucleoside transmembrane transporter activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(4)|skin(1)	26		all_cancers(109;8.53e-07)|all_epithelial(112;1.39e-05)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;3.77e-16)|GBM - Glioblastoma multiforme(94;2.71e-06)		TCCGGAAGTGGAGGAGTCCAA	0.552													59	86					0	0	1	0	0	A	45559948	G	A	45559948	3	1	151	1	0	0	0	0	1	0	0	0	14587	1175	41	2	1195	2	SLC28A2	15	45559948	Missense_Mutation	SNP	G	TCGA-DU-A7TD-01A-12D-A34A-08	1666280	45559948	56971444	42	22702											
NOXO1	124056	broad.mit.edu	37	16	2030145	2030145	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-A7TD-01A-12D-A34A-08	TCGA-DU-A7TD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9d0fdcb-9c40-4469-8aae-d7386c5237b1	ae422b79-6294-442d-a3a5-e631922ed41f	g.chr16:2030145A>G	ENST00000354249.4	-	5	805	c.436T>C	c.(436-438)Tct>Cct	p.S146P	TBL3_ENST00000568546.1_3'UTR|NOXO1_ENST00000566005.1_Missense_Mutation_p.S151P|NOXO1_ENST00000397280.4_Missense_Mutation_p.S152P|NOXO1_ENST00000356120.4_Missense_Mutation_p.S147P	NM_001267721.1|NM_144603.3|NM_172167.2|NM_172168.2	NP_001254650.1|NP_653204.1|NP_751907.1|NP_751908.1	Q8NFA2	NOXO1_HUMAN	NADPH oxidase organizer 1	152					cell communication|regulation of hydrogen peroxide metabolic process|regulation of respiratory burst	NADPH oxidase complex	enzyme binding|phosphatidylinositol binding|superoxide-generating NADPH oxidase activator activity			lung(2)	2						GCAGCGCGAGAAAGAGGCTGC	0.667													4	11					0	0	1	0	0	G	2030145	A	G	2030145	3	3	151	1	0	0	0	0	1	0	0	0	10608	246	9	3	692	3	NOXO1	16	2030145	Missense_Mutation	SNP	A	TCGA-DU-A7TD-01A-12D-A34A-08		2030145	88324608	43	22703											
GLYR1	84656	broad.mit.edu	37	16	4882886	4882886	+	Silent	SNP	C	C	T			TCGA-DU-A7TD-01A-12D-A34A-08	TCGA-DU-A7TD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9d0fdcb-9c40-4469-8aae-d7386c5237b1	ae422b79-6294-442d-a3a5-e631922ed41f	g.chr16:4882886C>T	ENST00000321919.9	-	4	259	c.183G>A	c.(181-183)aaG>aaA	p.K61K	GLYR1_ENST00000586901.1_5'UTR|GLYR1_ENST00000591451.1_Silent_p.K61K|GLYR1_ENST00000436648.5_Silent_p.K61K|GLYR1_ENST00000381983.3_Silent_p.K61K	NM_032569.3	NP_115958	Q49A26	GLYR1_HUMAN	glyoxylate reductase 1 homolog (Arabidopsis)	61	PWWP.				pentose-phosphate shunt	nucleus	coenzyme binding|DNA binding|methylated histone residue binding|phosphogluconate dehydrogenase (decarboxylating) activity			endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	19						CATGATATGGCTTCAGCTGTT	0.418													5	108					0	0	1	0	0	T	4882886	C	T	4882886	2	4	151	1	0	0	0	0	0	0	0	1	6525	796	28	2		2	GLYR1	16	4882886	Silent	SNP	C	TCGA-DU-A7TD-01A-12D-A34A-08	2852741	4882886	85471867	44	22704											
VWA3A	146177	broad.mit.edu	37	16	22122275	22122275	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A7TD-01A-12D-A34A-08	TCGA-DU-A7TD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9d0fdcb-9c40-4469-8aae-d7386c5237b1	ae422b79-6294-442d-a3a5-e631922ed41f	g.chr16:22122275G>A	ENST00000389398.5	+	8	745	c.649G>A	c.(649-651)Ggg>Agg	p.G217R	VWA3A_ENST00000389397.4_5'UTR	NM_173615.3	NP_775886.3	A6NCI4	VWA3A_HUMAN	von Willebrand factor A domain containing 3A	217						extracellular region				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7				GBM - Glioblastoma multiforme(48;0.0439)		CACCAATGCCGGGTCCCTCTG	0.552													5	11					0	0	1	0	0	A	22122275	G	A	22122275	3	1	151	1	0	0	0	0	1	0	0	0	17300	1116	39	1	679	1	VWA3A	16	22122275	Missense_Mutation	SNP	G	TCGA-DU-A7TD-01A-12D-A34A-08	17239389	22122275	68232478	45	22705											
PLCG2	5336	broad.mit.edu	37	16	81957132	81957132	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-A7TD-01A-12D-A34A-08	TCGA-DU-A7TD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9d0fdcb-9c40-4469-8aae-d7386c5237b1	ae422b79-6294-442d-a3a5-e631922ed41f	g.chr16:81957132C>T	ENST00000359376.3	+	22	2564	c.2350C>T	c.(2350-2352)Cga>Tga	p.R784*		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	784	SH3.				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						CAAAGCCAAGCGAAGCGATGA	0.592													9	16					0	0	1	0	0	T	81957132	C	T	81957132	4	4	151	1	0	0	0	0	0	1	0	0	12084	760	27	1	2432	1	PLCG2	16	81957132	Nonsense_Mutation	SNP	C	TCGA-DU-A7TD-01A-12D-A34A-08	59834857	81957132	8397621	46	22706											
GALNS	2588	broad.mit.edu	37	16	88889098	88889098	+	Silent	SNP	C	C	T			TCGA-DU-A7TD-01A-12D-A34A-08	TCGA-DU-A7TD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9d0fdcb-9c40-4469-8aae-d7386c5237b1	ae422b79-6294-442d-a3a5-e631922ed41f	g.chr16:88889098C>T	ENST00000268695.5	-	12	1351	c.1263G>A	c.(1261-1263)ggG>ggA	p.G421G	GALNS_ENST00000542788.1_Silent_p.G346G	NM_000512.4	NP_000503.1	P34059	GALNS_HUMAN	galactosamine (N-acetyl)-6-sulfate sulfatase	421						lysosome	metal ion binding|N-acetylgalactosamine-4-sulfatase activity|N-acetylgalactosamine-6-sulfatase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(8)	22				BRCA - Breast invasive adenocarcinoma(80;0.0496)	Hyaluronidase(DB00070)	AAACGTTCTGCCCAGGGCAGA	0.617													3	33					0	0	1	0	0	T	88889098	C	T	88889098	2	4	151	1	0	0	0	0	0	0	0	1	6246	726	26	2		2	GALNS	16	88889098	Silent	SNP	C	TCGA-DU-A7TD-01A-12D-A34A-08	6931966	88889098	1465655	47	22707											
LPIN2	9663	broad.mit.edu	37	18	2923857	2923857	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A7TD-01A-12D-A34A-08	TCGA-DU-A7TD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9d0fdcb-9c40-4469-8aae-d7386c5237b1	ae422b79-6294-442d-a3a5-e631922ed41f	g.chr18:2923857G>A	ENST00000261596.4	-	16	2328	c.2090C>T	c.(2089-2091)tCg>tTg	p.S697L		NM_014646.2	NP_055461.1	Q92539	LPIN2_HUMAN	lipin 2	697	C-LIP.				fatty acid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|triglyceride biosynthetic process	cytosol|endoplasmic reticulum membrane|nucleus	phosphatidate phosphatase activity|transcription coactivator activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	29				READ - Rectum adenocarcinoma(2;0.0419)|Colorectal(6;0.156)		CAAAGCATCCGACCTAAGAAG	0.468													32	40					0	0	1	0	0	A	2923857	G	A	2923857	3	1	151	1	0	0	0	0	1	0	0	0	8964	1059	37	1	620	1	LPIN2	18	2923857	Missense_Mutation	SNP	G	TCGA-DU-A7TD-01A-12D-A34A-08		2923857	75153391	48	22708											
ESCO1	114799	broad.mit.edu	37	18	19112440	19112440	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A7TD-01A-12D-A34A-08	TCGA-DU-A7TD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9d0fdcb-9c40-4469-8aae-d7386c5237b1	ae422b79-6294-442d-a3a5-e631922ed41f	g.chr18:19112440C>T	ENST00000269214.5	-	11	3306	c.2369G>A	c.(2368-2370)tGc>tAc	p.C790Y		NM_052911.2	NP_443143.2	Q5FWF5	ESCO1_HUMAN	establishment of sister chromatid cohesion N-acetyltransferase 1	790					cell cycle|post-translational protein acetylation|regulation of DNA replication	chromatin|nucleus	acyltransferase activity|metal ion binding			breast(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(10)|prostate(3)|upper_aerodigestive_tract(1)	35						TTACCTTAGGCATTCAATCAT	0.393													27	47					0	0	1	0	0	T	19112440	C	T	19112440	3	4	151	1	0	0	0	0	1	0	0	0	5276	710	25	2	161	2	ESCO1	18	19112440	Missense_Mutation	SNP	C	TCGA-DU-A7TD-01A-12D-A34A-08	16188583	19112440	58964808	49	22709											
POLRMT	5442	broad.mit.edu	37	19	621242	621242	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-A7TD-01A-12D-A34A-08	TCGA-DU-A7TD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9d0fdcb-9c40-4469-8aae-d7386c5237b1	ae422b79-6294-442d-a3a5-e631922ed41f	g.chr19:621242T>A	ENST00000588649.2	-	10	2540	c.2456A>T	c.(2455-2457)gAc>gTc	p.D819V		NM_005035.3	NP_005026.3	O00411	RPOM_HUMAN	polymerase (RNA) mitochondrial (DNA directed)	819	Mediates interaction with TEFM.				transcription initiation from mitochondrial promoter	mitochondrial nucleoid	DNA binding|DNA-directed RNA polymerase activity|protein binding			cervix(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)|prostate(1)|stomach(1)	20		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)		CCGCGCCACGTCGCTGCCCAG	0.701													8	12					0	0	1	0	0	A	621242	T	A	621242	3	1	151	1	0	0	0	0	1	0	0	0	12286	1667	58	5	1284	5	POLRMT	19	621242	Missense_Mutation	SNP	T	TCGA-DU-A7TD-01A-12D-A34A-08		621242	58507741	50	22710											
TNFSF14	8740	broad.mit.edu	37	19	6665007	6665007	+	Missense_Mutation	SNP	C	C	T	rs150171386	byFrequency	TCGA-DU-A7TD-01A-12D-A34A-08	TCGA-DU-A7TD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9d0fdcb-9c40-4469-8aae-d7386c5237b1	ae422b79-6294-442d-a3a5-e631922ed41f	g.chr19:6665007C>T	ENST00000326176.9	-	5	926	c.545G>A	c.(544-546)cGt>cAt	p.R182H	TNFSF14_ENST00000599359.1_Missense_Mutation_p.R218H|TNFSF14_ENST00000245912.3_Missense_Mutation_p.R182H	NM_003807.3|NM_172014.2	NP_003798.2|NP_742011.2	O43557	TNF14_HUMAN	tumor necrosis factor (ligand) superfamily, member 14	218					cellular response to mechanical stimulus|immune response|induction of apoptosis|release of cytoplasmic sequestered NF-kappaB|T cell homeostasis|T cell proliferation	cytoplasm|extracellular space|integral to membrane|plasma membrane	caspase inhibitor activity|cytokine activity|tumor necrosis factor receptor binding			breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18						ATCCAGCACACGGACGACCAC	0.622													27	55					0	0	1	0	0	T	6665007	C	T	6665007	3	4	151	1	0	0	0	0	1	0	0	0	16367	536	19	1	73	1	TNFSF14	19	6665007	Missense_Mutation	SNP	C	TCGA-DU-A7TD-01A-12D-A34A-08	6043765	6665007	52463976	51	22711											
MUC16	94025	broad.mit.edu	37	19	8976426	8976426	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-A7TD-01A-12D-A34A-08	TCGA-DU-A7TD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9d0fdcb-9c40-4469-8aae-d7386c5237b1	ae422b79-6294-442d-a3a5-e631922ed41f	g.chr19:8976426C>A	ENST00000397910.4	-	75	42605	c.42402G>T	c.(42400-42402)gaG>gaT	p.E14134D	MUC16_ENST00000380951.5_Missense_Mutation_p.E775D|MUC16_ENST00000596956.1_Intron	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	14165	SEA 14.			Missing (in Ref. 3; AAK74120).	cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CCCCATCCTTCTCAGGCCTGG	0.612													4	40					0.014758	0.014758	1	1	0	A	8976426	C	A	8976426	3	1	151	1	0	0	0	0	1	0	0	0	10021	912	32	4	1161	4	MUC16	19	8976426	Missense_Mutation	SNP	C	TCGA-DU-A7TD-01A-12D-A34A-08	2311419	8976426	50152557	52	22712											
NLRP2	55655	broad.mit.edu	37	19	55508845	55508845	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A7TD-01A-12D-A34A-08	TCGA-DU-A7TD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9d0fdcb-9c40-4469-8aae-d7386c5237b1	ae422b79-6294-442d-a3a5-e631922ed41f	g.chr19:55508845C>T	ENST00000543010.1	+	12	3183	c.3040C>T	c.(3040-3042)Cgg>Tgg	p.R1014W	NLRP2_ENST00000537859.1_Missense_Mutation_p.R992W|NLRP2_ENST00000391721.4_Missense_Mutation_p.R990W|NLRP2_ENST00000263437.6_Missense_Mutation_p.R1011W|NLRP2_ENST00000339757.7_Missense_Mutation_p.R992W|NLRP2_ENST00000427260.2_Missense_Mutation_p.R991W|NLRP2_ENST00000538819.1_Missense_Mutation_p.R990W|NLRP2_ENST00000448584.2_Missense_Mutation_p.R1014W	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	1014					apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		TGGCACCCTCCGGACACTCAG	0.512													44	65					0	0	1	0	0	T	55508845	C	T	55508845	3	4	151	1	0	0	0	0	1	0	0	0	10524	643	23	1	3082	1	NLRP2	19	55508845	Missense_Mutation	SNP	C	TCGA-DU-A7TD-01A-12D-A34A-08	46532419	55508845	3620138	53	22713											
ZSCAN1	284312	broad.mit.edu	37	19	58549411	58549411	+	Silent	SNP	C	C	G			TCGA-DU-A7TD-01A-12D-A34A-08	TCGA-DU-A7TD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9d0fdcb-9c40-4469-8aae-d7386c5237b1	ae422b79-6294-442d-a3a5-e631922ed41f	g.chr19:58549411C>G	ENST00000282326.1	+	3	454	c.207C>G	c.(205-207)ccC>ccG	p.P69P	ZSCAN1_ENST00000391700.1_Silent_p.P69P|ZSCAN1_ENST00000601162.1_Silent_p.P69P	NM_182572.3	NP_872378.3	Q8NBB4	ZSCA1_HUMAN	zinc finger and SCAN domain containing 1	69	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		GGCTGAGGCCCGAGGCGCGCT	0.706													9	21					0	0	1	0	0	G	58549411	C	G	58549411	2	3	151	1	0	0	0	0	0	0	0	1	18268	639	23	5		5	ZSCAN1	19	58549411	Silent	SNP	C	TCGA-DU-A7TD-01A-12D-A34A-08	3040566	58549411	579572	54	22714											
RFPL2	10739	broad.mit.edu	37	22	32587158	32587158	+	Silent	SNP	G	G	A			TCGA-DU-A7TD-01A-12D-A34A-08	TCGA-DU-A7TD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9d0fdcb-9c40-4469-8aae-d7386c5237b1	ae422b79-6294-442d-a3a5-e631922ed41f	g.chr22:32587158G>A	ENST00000400236.3	-	5	1673	c.468C>T	c.(466-468)gaC>gaT	p.D156D	RFPL2_ENST00000248980.4_Silent_p.D185D|RFPL2_ENST00000489846.1_5'UTR|RFPL2_ENST00000400237.1_Silent_p.D246D|RFPL2_ENST00000248983.4_Silent_p.D156D	NM_001098527.2	NP_001091997.2	O75678	RFPL2_HUMAN	ret finger protein-like 2	246							zinc ion binding			endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	21						TTGTTCCCACGTCCACCTCCC	0.567													44	73					0	0	1	0	0	A	32587158	G	A	32587158	2	1	151	1	0	0	0	0	0	0	0	1	13306	1136	40	1		1	RFPL2	22	32587158	Silent	SNP	G	TCGA-DU-A7TD-01A-12D-A34A-08		32587158	18717408	55	22715											
SLC5A4	6527	broad.mit.edu	37	22	32614591	32614591	+	Silent	SNP	C	C	T			TCGA-DU-A7TD-01A-12D-A34A-08	TCGA-DU-A7TD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9d0fdcb-9c40-4469-8aae-d7386c5237b1	ae422b79-6294-442d-a3a5-e631922ed41f	g.chr22:32614591C>T	ENST00000266086.4	-	15	1901	c.1890G>A	c.(1888-1890)acG>acA	p.T630T	RP1-90G24.10_ENST00000434942.1_RNA	NM_014227.2	NP_055042.1	Q9NY91	SC5A4_HUMAN	solute carrier family 5 (glucose activated ion channel), member 4	630					carbohydrate transport|sodium ion transport	integral to membrane	symporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|pancreas(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						GCCTCTCAGACGTGTCTGTGA	0.517													41	63					0	0	1	0	0	T	32614591	C	T	32614591	2	4	151	1	0	0	0	0	0	0	0	1	14722	523	19	1		1	SLC5A4	22	32614591	Silent	SNP	C	TCGA-DU-A7TD-01A-12D-A34A-08	27433	32614591	18689975	56	22716											
SSTR3	6753	broad.mit.edu	37	22	37603624	37603624	+	Silent	SNP	C	C	T			TCGA-DU-A7TD-01A-12D-A34A-08	TCGA-DU-A7TD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9d0fdcb-9c40-4469-8aae-d7386c5237b1	ae422b79-6294-442d-a3a5-e631922ed41f	g.chr22:37603624C>T	ENST00000328544.3	-	2	752	c.219G>A	c.(217-219)acG>acA	p.T73T	SSTR3_ENST00000402501.1_Silent_p.T73T	NM_001051.3	NP_001042.1	P32745	SSR3_HUMAN	somatostatin receptor 3	73					G-protein signaling, coupled to cyclic nucleotide second messenger|induction of apoptosis by hormones|negative regulation of cell proliferation	integral to plasma membrane|nonmotile primary cilium	somatostatin receptor activity	p.T73T(1)		NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)	14						AAGGGCTGGCCGTGTGCCGCA	0.642													72	70					0	0	1	0	0	T	37603624	C	T	37603624	2	4	151	1	0	0	0	0	0	0	0	1	15255	639	23	1		1	SSTR3	22	37603624	Silent	SNP	C	TCGA-DU-A7TD-01A-12D-A34A-08	4989033	37603624	13700942	57	22717											
HMGB3	3149	broad.mit.edu	37	X	150156360	150156360	+	Silent	SNP	G	G	A			TCGA-DU-A7TD-01A-12D-A34A-08	TCGA-DU-A7TD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9d0fdcb-9c40-4469-8aae-d7386c5237b1	ae422b79-6294-442d-a3a5-e631922ed41f	g.chrX:150156360G>A	ENST00000325307.7	+	5	672	c.576G>A	c.(574-576)gaG>gaA	p.E192E	HMGB3_ENST00000448905.2_Silent_p.E192E	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN	high mobility group box 3	192	Asp/Glu-rich (acidic).				DNA recombination|multicellular organismal development	chromosome|nucleus	DNA bending activity|double-stranded DNA binding	p.E192E(1)		endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8	Acute lymphoblastic leukemia(192;6.56e-05)					aggaagaagaggaggaggagg	0.443													4	51					0	0	1	0	0	A	150156360	G	A	150156360	2	1	151	1	0	0	0	0	0	0	0	1	7268	991	35	2		2	HMGB3	23	150156360	Silent	SNP	G	TCGA-DU-A7TD-01A-12D-A34A-08		150156360	5114200	58	22718											
ELK4	2005	broad.mit.edu	37	1	205585723	205585723	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-A7TG-01A-21D-A34J-08	TCGA-DU-A7TG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926f2cf8-a060-403b-9fc4-cbe215eadef2	5c0ba5c6-4188-4cfc-88e3-78ba50bca8b1	g.chr1:205585723T>C	ENST00000357992.4	-	5	1586	c.1247A>G	c.(1246-1248)gAt>gGt	p.D416G		NM_001973.3	NP_001964.2			ELK4, ETS-domain protein (SRF accessory protein 1)										SLC45A3/ELK4(18)	breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	12	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0908)			GGAAGGTCCATCCAGCCCAGA	0.453			T	SLC45A3	prostate								6	56					0	0	1	0	0	C	205585723	T	C	205585723	3	2	152	1	0	0	0	0	1	0	0	0	5089	1435	50	3	52	3	ELK4	1	205585723	Missense_Mutation	SNP	T	TCGA-DU-A7TG-01A-21D-A34J-08		205585723	43664898	1	22719											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-DU-A7TG-01A-21D-A34J-08	TCGA-DU-A7TG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926f2cf8-a060-403b-9fc4-cbe215eadef2	5c0ba5c6-4188-4cfc-88e3-78ba50bca8b1	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	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								9	85					0	0	1	0	0	T	209113112	C	T	209113112	3	4	152	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-DU-A7TG-01A-21D-A34J-08		209113112	34086261	2	22720											
OR5H6	79295	broad.mit.edu	37	3	97983325	97983325	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-A7TG-01A-21D-A34J-08	TCGA-DU-A7TG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926f2cf8-a060-403b-9fc4-cbe215eadef2	5c0ba5c6-4188-4cfc-88e3-78ba50bca8b1	g.chr3:97983325G>T	ENST00000383696.2	+	1	238	c.197G>T	c.(196-198)tGg>tTg	p.W66L	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005479.1	NP_001005479.1	Q8NGV6	OR5H6_HUMAN	olfactory receptor, family 5, subfamily H, member 6 (gene/pseudogene)	66					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(2)|endometrium(1)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						GTTCTCATCTGGAAAGACCCT	0.418													9	304					3.09899e-07	3.09899e-07	1	1	0	T	97983325	G	T	97983325	3	4	152	1	0	0	0	0	1	0	0	0	11210	1357	47	5	199	5	OR5H6	3	97983325	Missense_Mutation	SNP	G	TCGA-DU-A7TG-01A-21D-A34J-08		97983325	100039105	3	22721											
GPR115	221393	broad.mit.edu	37	6	47682296	47682296	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A7TG-01A-21D-A34J-08	TCGA-DU-A7TG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926f2cf8-a060-403b-9fc4-cbe215eadef2	5c0ba5c6-4188-4cfc-88e3-78ba50bca8b1	g.chr6:47682296C>T	ENST00000283303.2	+	6	1573	c.1315C>T	c.(1315-1317)Cgt>Tgt	p.R439C	GPR115_ENST00000371220.1_Missense_Mutation_p.R496C|GPR115_ENST00000327753.3_Missense_Mutation_p.R439C	NM_153838.3	NP_722580.3	Q8IZF3	GP115_HUMAN	G protein-coupled receptor 115	439					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.R439C(1)		NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	52						ATCATACATGCGTCACGTGTG	0.483													32	129					0	0	1	0	0	T	47682296	C	T	47682296	3	4	152	1	0	0	0	0	1	0	0	0	6672	768	27	1	1333	1	GPR115	6	47682296	Missense_Mutation	SNP	C	TCGA-DU-A7TG-01A-21D-A34J-08		47682296	123432771	4	22722											
BMP5	653	broad.mit.edu	37	6	55659164	55659164	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DU-A7TG-01A-21D-A34J-08	TCGA-DU-A7TG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926f2cf8-a060-403b-9fc4-cbe215eadef2	5c0ba5c6-4188-4cfc-88e3-78ba50bca8b1	g.chr6:55659164delC	ENST00000370830.3	-	3	1443	c.745delG	c.(745-747)gtcfs	p.V249fs	BMP5_ENST00000446683.2_Frame_Shift_Del_p.V249fs	NM_021073.2	NP_066551.1	P22003	BMP5_HUMAN	bone morphogenetic protein 5	249					cartilage development|cell differentiation|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	45	Lung NSC(77;0.0462)		LUSC - Lung squamous cell carcinoma(124;0.181)			ATATCAAAGACAAGCCAACCC	0.403													22	128	---	---	---	---						-	55659164	C	-	55659164	7	5	152	1	0	1	0	1	0	0	0	0	1462	478	17	0	639	0	BMP5	6	55659164	Frame_Shift_Del	DEL	C	TCGA-DU-A7TG-01A-21D-A34J-08	7976868	55659164	115455903	5	22723											
WDR27	253769	broad.mit.edu	37	6	170070679	170070679	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-A7TG-01A-21D-A34J-08	TCGA-DU-A7TG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926f2cf8-a060-403b-9fc4-cbe215eadef2	5c0ba5c6-4188-4cfc-88e3-78ba50bca8b1	g.chr6:170070679T>A	ENST00000333572.6	-	4	961	c.442A>T	c.(442-444)Atg>Ttg	p.M148L	WDR27_ENST00000420344.2_Missense_Mutation_p.M148L|WDR27_ENST00000448612.1_Missense_Mutation_p.M148L|WDR27_ENST00000423258.1_Intron			A2RRH5	WDR27_HUMAN	WD repeat domain 27	148										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1)	12		Breast(66;1.53e-05)|Ovarian(120;0.216)		OV - Ovarian serous cystadenocarcinoma(33;6.48e-20)|BRCA - Breast invasive adenocarcinoma(81;3.56e-07)|GBM - Glioblastoma multiforme(31;0.00168)		ATATCCAGCATGAATATTTTG	0.493													12	52					0	0	1	0	0	A	170070679	T	A	170070679	3	1	152	1	0	0	0	0	1	0	0	0	17344	1464	51	4	2219	4	WDR27	6	170070679	Missense_Mutation	SNP	T	TCGA-DU-A7TG-01A-21D-A34J-08	114411515	170070679	1044388	6	22724											
CDH17	1015	broad.mit.edu	37	8	95178176	95178176	+	Silent	SNP	A	A	G			TCGA-DU-A7TG-01A-21D-A34J-08	TCGA-DU-A7TG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926f2cf8-a060-403b-9fc4-cbe215eadef2	5c0ba5c6-4188-4cfc-88e3-78ba50bca8b1	g.chr8:95178176A>G	ENST00000027335.3	-	10	1219	c.1095T>C	c.(1093-1095)caT>caC	p.H365H	CDH17_ENST00000441892.2_Silent_p.H151H|CDH17_ENST00000450165.2_Silent_p.H365H	NM_004063.3	NP_004054.3	Q12864	CAD17_HUMAN	cadherin 17, LI cadherin (liver-intestine)	365	Cadherin 4.					integral to membrane	calcium ion binding			NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			CATCCCTGTCATGTGCAGTAA	0.408													8	44					0	0	1	0	0	G	95178176	A	G	95178176	2	3	152	1	0	0	0	0	0	0	0	1	3124	214	8	3		3	CDH17	8	95178176	Silent	SNP	A	TCGA-DU-A7TG-01A-21D-A34J-08		95178176	51185846	7	22725											
TAF1L	138474	broad.mit.edu	37	9	32632685	32632685	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-A7TG-01A-21D-A34J-08	TCGA-DU-A7TG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926f2cf8-a060-403b-9fc4-cbe215eadef2	5c0ba5c6-4188-4cfc-88e3-78ba50bca8b1	g.chr9:32632685A>G	ENST00000242310.4	-	1	2982	c.2893T>C	c.(2893-2895)Tgt>Cgt	p.C965R		NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	965					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		TCTAGGAGACACTTGCCCTTC	0.468													26	109					0	0	1	0	0	G	32632685	A	G	32632685	3	3	152	1	0	0	0	0	1	0	0	0	15580	159	6	3	2591	3	TAF1L	9	32632685	Missense_Mutation	SNP	A	TCGA-DU-A7TG-01A-21D-A34J-08		32632685	108580746	8	22726											
DNHD1	144132	broad.mit.edu	37	11	6519690	6519690	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A7TG-01A-21D-A34J-08	TCGA-DU-A7TG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926f2cf8-a060-403b-9fc4-cbe215eadef2	5c0ba5c6-4188-4cfc-88e3-78ba50bca8b1	g.chr11:6519690G>A	ENST00000254579.6	+	3	809	c.245G>A	c.(244-246)cGc>cAc	p.R82H	DNHD1_ENST00000354685.3_Missense_Mutation_p.R82H|DNHD1_ENST00000527990.2_Missense_Mutation_p.R82H|DNHD1_ENST00000477562.1_3'UTR	NM_144666.2	NP_653267.2	Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	82					microtubule-based movement	dynein complex	microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		GCAGCTTGGCGCTATCTTCAT	0.557													18	105					0	0	1	0	0	A	6519690	G	A	6519690	3	1	152	1	0	0	0	0	1	0	0	0	4695	1087	38	1	247	1	DNHD1	11	6519690	Missense_Mutation	SNP	G	TCGA-DU-A7TG-01A-21D-A34J-08		6519690	128486826	9	22727											
MYH7	4625	broad.mit.edu	37	14	23897871	23897871	+	Silent	SNP	G	G	A			TCGA-DU-A7TG-01A-21D-A34J-08	TCGA-DU-A7TG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926f2cf8-a060-403b-9fc4-cbe215eadef2	5c0ba5c6-4188-4cfc-88e3-78ba50bca8b1	g.chr14:23897871G>A	ENST00000355349.3	-	15	1578	c.1416C>T	c.(1414-1416)agC>agT	p.S472S		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	472	Myosin head-like.				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		GCTGCTCAAAGCTGTTGAACT	0.577													4	61					0	0	1	0	0	A	23897871	G	A	23897871	2	1	152	1	0	0	0	0	0	0	0	1	10087	962	34	2		2	MYH7	14	23897871	Silent	SNP	G	TCGA-DU-A7TG-01A-21D-A34J-08		23897871	83451669	10	22728											
ZNF280D	54816	broad.mit.edu	37	15	56924126	56924126	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-A7TG-01A-21D-A34J-08	TCGA-DU-A7TG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926f2cf8-a060-403b-9fc4-cbe215eadef2	5c0ba5c6-4188-4cfc-88e3-78ba50bca8b1	g.chr15:56924126T>C	ENST00000559237.1	-	21	3154	c.2471A>G	c.(2470-2472)gAa>gGa	p.E824G	ZNF280D_ENST00000267807.7_Missense_Mutation_p.E837G	NM_001002843.1	NP_001002843.1	Q6N043	Z280D_HUMAN	zinc finger protein 280D	837					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(5)|kidney(4)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	30				all cancers(107;0.0399)|GBM - Glioblastoma multiforme(80;0.0787)		TTTTTTCTTTTCCACTTTATC	0.353													40	166					0	0	1	0	0	C	56924126	T	C	56924126	3	2	152	1	0	0	0	0	1	0	0	0	17875	1783	62	3	433	3	ZNF280D	15	56924126	Missense_Mutation	SNP	T	TCGA-DU-A7TG-01A-21D-A34J-08		56924126	45607266	11	22729											
TEKT1	83659	broad.mit.edu	37	17	6704170	6704170	+	Silent	SNP	C	C	T			TCGA-DU-A7TG-01A-21D-A34J-08	TCGA-DU-A7TG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926f2cf8-a060-403b-9fc4-cbe215eadef2	5c0ba5c6-4188-4cfc-88e3-78ba50bca8b1	g.chr17:6704170C>T	ENST00000338694.2	-	7	1074	c.945G>A	c.(943-945)acG>acA	p.T315T	TEKT1_ENST00000535086.1_Silent_p.T169T	NM_053285.1	NP_444515.1	Q969V4	TEKT1_HUMAN	tektin 1	315					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20		Myeloproliferative disorder(207;0.0255)				TCTCCAAGCGCGTATGAGCCA	0.502											OREG0024124	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	15	160					0	0	1	0	0	T	6704170	C	T	6704170	2	4	152	1	0	0	0	0	0	0	0	1	15811	755	27	1		1	TEKT1	17	6704170	Silent	SNP	C	TCGA-DU-A7TG-01A-21D-A34J-08		6704170	74491040	12	22730											
METTL2A	339175	broad.mit.edu	37	17	60526028	60526028	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-A7TG-01A-21D-A34J-08	TCGA-DU-A7TG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926f2cf8-a060-403b-9fc4-cbe215eadef2	5c0ba5c6-4188-4cfc-88e3-78ba50bca8b1	g.chr17:60526028A>G	ENST00000311506.5	+	9	1111	c.1075A>G	c.(1075-1077)Aca>Gca	p.T359A		NM_181725.3	NP_859076.3	Q96IZ6	MTL2A_HUMAN	methyltransferase like 2A	359							methyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(1)|upper_aerodigestive_tract(2)	6			BRCA - Breast invasive adenocarcinoma(2;1.08e-10)			AAAGCAACTGACAATGTACCG	0.532													4	199					0	0	1	0	0	G	60526028	A	G	60526028	3	3	152	1	0	0	0	0	1	0	0	0	9549	275	10	3	1109	3	METTL2A	17	60526028	Missense_Mutation	SNP	A	TCGA-DU-A7TG-01A-21D-A34J-08	53821858	60526028	20669182	13	22731											
SCN4A	6329	broad.mit.edu	37	17	62022892	62022892	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A7TG-01A-21D-A34J-08	TCGA-DU-A7TG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926f2cf8-a060-403b-9fc4-cbe215eadef2	5c0ba5c6-4188-4cfc-88e3-78ba50bca8b1	g.chr17:62022892G>A	ENST00000435607.1	-	19	3624	c.3548C>T	c.(3547-3549)gCc>gTc	p.A1183V	SCN4A_ENST00000578147.1_Missense_Mutation_p.A1183V	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	1183					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.A1183V(1)		breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	GAACTTGCCGGCAAACAGGTT	0.542													5	273					0	0	1	0	0	A	62022892	G	A	62022892	3	1	152	1	0	0	0	0	1	0	0	0	13974	1203	42	2	1986	2	SCN4A	17	62022892	Missense_Mutation	SNP	G	TCGA-DU-A7TG-01A-21D-A34J-08	1496864	62022892	19172318	14	22732											
COL6A1	1291	broad.mit.edu	37	21	47417371	47417371	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A7TG-01A-21D-A34J-08	TCGA-DU-A7TG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926f2cf8-a060-403b-9fc4-cbe215eadef2	5c0ba5c6-4188-4cfc-88e3-78ba50bca8b1	g.chr21:47417371G>A	ENST00000361866.3	+	21	1549	c.1435G>A	c.(1435-1437)Ggc>Agc	p.G479S		NM_001848.2	NP_001839.2	P12109	CO6A1_HUMAN	collagen, type VI, alpha 1	479	Triple-helical region.				axon guidance|cell adhesion|protein heterotrimerization	collagen type VI|protein complex	platelet-derived growth factor binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	all_hematologic(128;0.24)			Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)	Palifermin(DB00039)	AGGCTACCGAGGCGATGAGGG	0.662													8	42					0	0	1	0	0	A	47417371	G	A	47417371	3	1	152	1	0	0	0	0	1	0	0	0	3722	1000	35	2	1517	2	COL6A1	21	47417371	Missense_Mutation	SNP	G	TCGA-DU-A7TG-01A-21D-A34J-08		47417371	712524	15	22733											
SPEN	23013	broad.mit.edu	37	1	16261678	16261678	+	Silent	SNP	G	G	A			TCGA-DU-A7TJ-01A-11D-A34J-08	TCGA-DU-A7TJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e423faad-225f-4505-b3ae-0b142263357d	06cf2071-92a5-4732-a699-a6d86bd996b0	g.chr1:16261678G>A	ENST00000375759.3	+	11	9147	c.8943G>A	c.(8941-8943)acG>acA	p.T2981T		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	2981					interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		TGGGGTCCACGCTCACGCCCC	0.597													3	43					0	0	1	0	0	A	16261678	G	A	16261678	2	1	153	1	0	0	0	0	0	0	0	1	15094	1074	38	1		1	SPEN	1	16261678	Silent	SNP	G	TCGA-DU-A7TJ-01A-11D-A34J-08		16261678	232988943	1	22734											
RPL5	6125	broad.mit.edu	37	1	93300378	93300378	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-A7TJ-01A-11D-A34J-08	TCGA-DU-A7TJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e423faad-225f-4505-b3ae-0b142263357d	06cf2071-92a5-4732-a699-a6d86bd996b0	g.chr1:93300378G>C	ENST00000370321.3	+	4	322	c.232G>C	c.(232-234)Gcg>Ccg	p.A78P		NM_000969.3	NP_000960.2	P46777	RL5_HUMAN	ribosomal protein L5	78				A -> R (in Ref. 1; AAA85654).	endocrine pancreas development|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	5S rRNA binding|protein binding|structural constituent of ribosome			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9		all_lung(203;0.00265)|Lung NSC(277;0.0056)|all_neural(321;0.185)|Melanoma(281;0.192)|Glioma(108;0.203)		GBM - Glioblastoma multiforme(16;0.000305)|all cancers(265;0.000343)|Epithelial(280;0.0927)		AGTCTGCGCAGCGTATGCACA	0.458													56	81					0	0	1	0	0	C	93300378	G	C	93300378	3	2	153	1	0	0	0	0	1	0	0	0	13649	971	34	4	246	4	RPL5	1	93300378	Missense_Mutation	SNP	G	TCGA-DU-A7TJ-01A-11D-A34J-08	77038700	93300378	155950243	2	22735											
GSTM4	2948	broad.mit.edu	37	1	110201727	110201727	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-A7TJ-01A-11D-A34J-08	TCGA-DU-A7TJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e423faad-225f-4505-b3ae-0b142263357d	06cf2071-92a5-4732-a699-a6d86bd996b0	g.chr1:110201727T>C	ENST00000369833.1	+	5	1353	c.439T>C	c.(439-441)Ttt>Ctt	p.F147L	GSTM4_ENST00000326729.5_Missense_Mutation_p.F188L|GSTM4_ENST00000495742.1_3'UTR|GSTM4_ENST00000336075.5_Missense_Mutation_p.F127L|GSTM4_ENST00000369836.4_Missense_Mutation_p.F188L			Q03013	GSTM4_HUMAN	glutathione S-transferase mu 4	188	GST C-terminal.				xenobiotic metabolic process	endoplasmic reticulum membrane	glutathione transferase activity			endometrium(3)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	12		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		all cancers(265;0.0123)|Colorectal(144;0.0129)|Epithelial(280;0.0147)|Lung(183;0.0422)|COAD - Colon adenocarcinoma(174;0.0471)|LUSC - Lung squamous cell carcinoma(189;0.227)	Glutathione(DB00143)	CATCTCCCGCTTTGAGGTGAT	0.478													6	221					0	0	1	0	0	C	110201727	T	C	110201727	3	2	153	1	0	0	0	0	1	0	0	0	6881	1609	56	3	588	3	GSTM4	1	110201727	Missense_Mutation	SNP	T	TCGA-DU-A7TJ-01A-11D-A34J-08	16901349	110201727	139048894	3	22736											
CHIA	27159	broad.mit.edu	37	1	111861169	111861169	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A7TJ-01A-11D-A34J-08	TCGA-DU-A7TJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e423faad-225f-4505-b3ae-0b142263357d	06cf2071-92a5-4732-a699-a6d86bd996b0	g.chr1:111861169G>A	ENST00000369740.1	+	9	887	c.784G>A	c.(784-786)Gtt>Att	p.V262I	CHIA_ENST00000430615.1_Missense_Mutation_p.V154I|CHIA_ENST00000353665.6_Missense_Mutation_p.V101I|CHIA_ENST00000343320.6_Missense_Mutation_p.V262I|CHIA_ENST00000451398.2_Missense_Mutation_p.V101I|RP5-1125M8.2_ENST00000426321.1_RNA|CHIA_ENST00000483391.1_Missense_Mutation_p.V101I	NM_001258001.1|NM_201653.3	NP_001244930.1|NP_970615.2	Q9BZP6	CHIA_HUMAN	chitinase, acidic	262					apoptosis|cell wall chitin metabolic process|chitin catabolic process|digestion|immune response|positive regulation of chemokine secretion|production of molecular mediator involved in inflammatory response|response to acid|response to fungus	cytoplasm|extracellular space	cation binding|chitin binding|chitinase activity|kinase binding|lysozyme activity|sugar binding	p.V154I(1)|p.V262I(1)		central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	23		all_cancers(81;3.23e-05)|all_epithelial(167;1.2e-05)|all_lung(203;0.000154)|Lung NSC(277;0.000304)		Colorectal(144;0.0115)|Lung(183;0.0292)|COAD - Colon adenocarcinoma(174;0.0314)|all cancers(265;0.0477)|Epithelial(280;0.0918)|LUSC - Lung squamous cell carcinoma(189;0.154)		GAAGCTCATCGTTGGATTCCC	0.537													40	53					0	0	1	0	0	A	111861169	G	A	111861169	3	1	153	1	0	0	0	0	1	0	0	0	3364	1145	40	1	814	1	CHIA	1	111861169	Missense_Mutation	SNP	G	TCGA-DU-A7TJ-01A-11D-A34J-08	1659442	111861169	137389452	4	22737											
PTGFRN	5738	broad.mit.edu	37	1	117487662	117487662	+	Silent	SNP	G	G	A			TCGA-DU-A7TJ-01A-11D-A34J-08	TCGA-DU-A7TJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e423faad-225f-4505-b3ae-0b142263357d	06cf2071-92a5-4732-a699-a6d86bd996b0	g.chr1:117487662G>A	ENST00000393203.2	+	3	927	c.780G>A	c.(778-780)caG>caA	p.Q260Q		NM_020440.2	NP_065173.2	Q9P2B2	FPRP_HUMAN	prostaglandin F2 receptor inhibitor	260	Ig-like C2-type 2.					endoplasmic reticulum membrane|Golgi apparatus|integral to membrane	protein binding			NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)	46	Lung SC(450;0.225)	all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446)		Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248)		GCAACTGGCAGGAAATCCAAG	0.567													17	21					0	0	1	0	0	A	117487662	G	A	117487662	2	1	153	1	0	0	0	0	0	0	0	1	12800	991	35	2		2	PTGFRN	1	117487662	Silent	SNP	G	TCGA-DU-A7TJ-01A-11D-A34J-08	5626493	117487662	131762959	5	22738											
CRCT1	54544	broad.mit.edu	37	1	152487972	152487972	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-A7TJ-01A-11D-A34J-08	TCGA-DU-A7TJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e423faad-225f-4505-b3ae-0b142263357d	06cf2071-92a5-4732-a699-a6d86bd996b0	g.chr1:152487972C>G	ENST00000368790.3	+	2	186	c.113C>G	c.(112-114)tCc>tGc	p.S38C		NM_019060.2	NP_061933.1	Q9UGL9	CRCT1_HUMAN	cysteine-rich C-terminal 1	38										lung(1)|ovary(1)	2	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			tcctcctcctccTGCTGCGGC	0.736													3	27					0	0	1	0	0	G	152487972	C	G	152487972	3	3	153	1	0	0	0	0	1	0	0	0	3876	855	30	5	115	5	CRCT1	1	152487972	Missense_Mutation	SNP	C	TCGA-DU-A7TJ-01A-11D-A34J-08	35000310	152487972	96762649	6	22739											
GON4L	54856	broad.mit.edu	37	1	155721974	155721974	+	Silent	SNP	G	G	T			TCGA-DU-A7TJ-01A-11D-A34J-08	TCGA-DU-A7TJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e423faad-225f-4505-b3ae-0b142263357d	06cf2071-92a5-4732-a699-a6d86bd996b0	g.chr1:155721974G>T	ENST00000437809.1	-	30	6369	c.6247C>A	c.(6247-6249)Cgg>Agg	p.R2083R	GON4L_ENST00000368331.1_Silent_p.R2084R|GON4L_ENST00000271883.5_Silent_p.R2083R	NM_001282856.1	NP_001269785.1	Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	2084					regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	p.R2083W(1)		NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					GTCTTCACCCGAGCTCTGCTT	0.532													4	123					3.59834e-05	3.75255e-05	1	1	0	T	155721974	G	T	155721974	2	4	153	1	0	0	0	0	0	0	0	1	6611	1057	37	5		5	GON4L	1	155721974	Silent	SNP	G	TCGA-DU-A7TJ-01A-11D-A34J-08	3234002	155721974	93528647	7	22740											
TRIM17	51127	broad.mit.edu	37	1	228602614	228602614	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A7TJ-01A-11D-A34J-08	TCGA-DU-A7TJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e423faad-225f-4505-b3ae-0b142263357d	06cf2071-92a5-4732-a699-a6d86bd996b0	g.chr1:228602614G>A	ENST00000366697.2	-	1	1116	c.160C>T	c.(160-162)Cgg>Tgg	p.R54W	TRIM17_ENST00000456946.2_Missense_Mutation_p.R54W|TRIM17_ENST00000366698.2_Missense_Mutation_p.R54W|TRIM17_ENST00000295033.3_Missense_Mutation_p.R54W			Q9Y577	TRI17_HUMAN	tripartite motif containing 17	54					protein autoubiquitination	intracellular	protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)	10		Prostate(94;0.0724)				TTCCGCTTCCGCCTCCCCTTC	0.632													13	19					0	0	1	0	0	A	228602614	G	A	228602614	3	1	153	1	0	0	0	0	1	0	0	0	16554	1086	38	1	1446	1	TRIM17	1	228602614	Missense_Mutation	SNP	G	TCGA-DU-A7TJ-01A-11D-A34J-08	72880640	228602614	20648007	8	22741											
MYO7B	4648	broad.mit.edu	37	2	128341727	128341727	+	Silent	SNP	C	C	T			TCGA-DU-A7TJ-01A-11D-A34J-08	TCGA-DU-A7TJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e423faad-225f-4505-b3ae-0b142263357d	06cf2071-92a5-4732-a699-a6d86bd996b0	g.chr2:128341727C>T	ENST00000389524.4	+	13	1427	c.1374C>T	c.(1372-1374)aaC>aaT	p.N458N	MYO7B_ENST00000428314.1_Silent_p.N458N|MYO7B_ENST00000409816.2_Silent_p.N458N			Q6PIF6	MYO7B_HUMAN	myosin VIIB	458	Myosin head-like.					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		ACTTCGCCAACGAGCACCTGC	0.597													13	20					0	0	1	0	0	T	128341727	C	T	128341727	2	4	153	1	0	0	0	0	0	0	0	1	10131	535	19	1		1	MYO7B	2	128341727	Silent	SNP	C	TCGA-DU-A7TJ-01A-11D-A34J-08		128341727	114857646	9	22742											
MCM6	4175	broad.mit.edu	37	2	136622582	136622582	+	Splice_Site	SNP	C	C	G			TCGA-DU-A7TJ-01A-11D-A34J-08	TCGA-DU-A7TJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e423faad-225f-4505-b3ae-0b142263357d	06cf2071-92a5-4732-a699-a6d86bd996b0	g.chr2:136622582C>G	ENST00000264156.2	-	7	1139		c.e7+1		MCM6_ENST00000492091.1_Splice_Site	NM_005915.5	NP_005906.2	Q14566	MCM6_HUMAN	minichromosome maintenance complex component 6						cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|identical protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(15)|prostate(2)|skin(1)	29				BRCA - Breast invasive adenocarcinoma(221;0.166)	Atorvastatin(DB01076)	GGAATTCTTACCATGTATAGT	0.343													40	76					0	0	1	0	0	G	136622582	C	G	136622582	5	3	153	1	0	0	0	0	0	0	1	0	9441	521	18	5	1430	5	MCM6	2	136622582	Splice_Site	SNP	C	TCGA-DU-A7TJ-01A-11D-A34J-08	8280855	136622582	106576791	10	22743											
TTN	7273	broad.mit.edu	37	2	179453326	179453326	+	Silent	SNP	A	A	G			TCGA-DU-A7TJ-01A-11D-A34J-08	TCGA-DU-A7TJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e423faad-225f-4505-b3ae-0b142263357d	06cf2071-92a5-4732-a699-a6d86bd996b0	g.chr2:179453326A>G	ENST00000589042.1	-	304	63350	c.63126T>C	c.(63124-63126)aaT>aaC	p.N21042N	TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Silent_p.N12102N|TTN_ENST00000460472.2_Silent_p.N11977N|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Silent_p.N12169N|TTN_ENST00000591111.1_Silent_p.N19401N|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Silent_p.N18474N	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	19401	Fibronectin type-III 52.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCCAATTTCATTTTCTGCCT	0.453													13	248					0	0	1	0	0	G	179453326	A	G	179453326	2	3	153	1	0	0	0	0	0	0	0	1	16797	214	8	3		3	TTN	2	179453326	Silent	SNP	A	TCGA-DU-A7TJ-01A-11D-A34J-08	42830744	179453326	63746047	11	22744											
CHRNG	1146	broad.mit.edu	37	2	233409542	233409542	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-A7TJ-01A-11D-A34J-08	TCGA-DU-A7TJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e423faad-225f-4505-b3ae-0b142263357d	06cf2071-92a5-4732-a699-a6d86bd996b0	g.chr2:233409542C>A	ENST00000389494.3	+	11	1331	c.1310C>A	c.(1309-1311)gCc>gAc	p.A437D	CHRNG_ENST00000389492.3_Missense_Mutation_p.A385D	NM_005199.4	NP_005190.4	P07510	ACHG_HUMAN	cholinergic receptor, nicotinic, gamma (muscle)	437					muscle contraction	cell junction|postsynaptic membrane	acetylcholine receptor activity			breast(2)|endometrium(3)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;6.39e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00079)|LUSC - Lung squamous cell carcinoma(224;0.00757)|Lung(119;0.0086)		GCTGCCCCAGCCATCCAGGCC	0.572													35	38					1.45844e-13	1.61312e-13	1	1	0	A	233409542	C	A	233409542	3	1	153	1	0	0	0	0	1	0	0	0	3418	739	26	5	1352	5	CHRNG	2	233409542	Missense_Mutation	SNP	C	TCGA-DU-A7TJ-01A-11D-A34J-08	53956216	233409542	9789831	12	22745											
CCDC37	348807	broad.mit.edu	37	3	126137511	126137511	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-A7TJ-01A-11D-A34J-08	TCGA-DU-A7TJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e423faad-225f-4505-b3ae-0b142263357d	06cf2071-92a5-4732-a699-a6d86bd996b0	g.chr3:126137511G>C	ENST00000393425.1	+	7	646	c.547G>C	c.(547-549)Gag>Cag	p.E183Q	CCDC37_ENST00000505024.1_Missense_Mutation_p.E183Q|CCDC37_ENST00000352312.1_Missense_Mutation_p.E182Q			Q494V2	CCD37_HUMAN	coiled-coil domain containing 37	182										NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.166)		GGCGACCAAAGAGGAGGCCAG	0.647													5	2					0	0	1	0	0	C	126137511	G	C	126137511	3	2	153	1	0	0	0	0	1	0	0	0	2828	943	33	4	566	4	CCDC37	3	126137511	Missense_Mutation	SNP	G	TCGA-DU-A7TJ-01A-11D-A34J-08		126137511	71884919	13	22746											
GABRA4	2557	broad.mit.edu	37	4	46967202	46967202	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-A7TJ-01A-11D-A34J-08	TCGA-DU-A7TJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e423faad-225f-4505-b3ae-0b142263357d	06cf2071-92a5-4732-a699-a6d86bd996b0	g.chr4:46967202G>A	ENST00000264318.3	-	8	1901	c.919C>T	c.(919-921)Cga>Tga	p.R307*		NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 4	307					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	AAAGAATGTCGTGCACTGATG	0.433													45	77					0	0	1	0	0	A	46967202	G	A	46967202	4	1	153	1	0	0	0	0	0	1	0	0	6198	1153	40	1	753	1	GABRA4	4	46967202	Nonsense_Mutation	SNP	G	TCGA-DU-A7TJ-01A-11D-A34J-08		46967202	144187074	14	22747											
ADH1C	126	broad.mit.edu	37	4	100257916	100257916	+	RNA	SNP	G	G	A			TCGA-DU-A7TJ-01A-11D-A34J-08	TCGA-DU-A7TJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e423faad-225f-4505-b3ae-0b142263357d	06cf2071-92a5-4732-a699-a6d86bd996b0	g.chr4:100257916G>A	ENST00000515683.1	-	0	1472					NM_000669.3	NP_000660.1	P00326	ADH1G_HUMAN	alcohol dehydrogenase 1C (class I), gamma polypeptide						ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|zinc ion binding								OV - Ovarian serous cystadenocarcinoma(123;1.08e-07)	Fomepizole(DB01213)|NADH(DB00157)	GTTTCAAAACGTCAGGACGGT	0.423													27	25					0	0	1	0	0	A	100257916	G	A	100257916	1	1	153	0	1	0	0	0	0	0	0	0	308	1145	40	1		1	ADH1C	4	100257916	RNA	SNP	G	TCGA-DU-A7TJ-01A-11D-A34J-08	53290714	100257916	90896360	15	22748											
ACTBL2	345651	broad.mit.edu	37	5	56777838	56777838	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A7TJ-01A-11D-A34J-08	TCGA-DU-A7TJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e423faad-225f-4505-b3ae-0b142263357d	06cf2071-92a5-4732-a699-a6d86bd996b0	g.chr5:56777838C>T	ENST00000423391.1	-	1	798	c.697G>A	c.(697-699)Gca>Aca	p.A233T	CTD-2023N9.1_ENST00000506106.1_RNA	NM_001017992.3	NP_001017992.1	Q562R1	ACTBL_HUMAN	actin, beta-like 2	233						cytoplasm|cytoskeleton	ATP binding	p.A233T(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(3)|pancreas(1)|prostate(2)	28		Lung NSC(810;0.000135)|Prostate(74;0.055)|Breast(144;0.0707)|Ovarian(174;0.182)		OV - Ovarian serous cystadenocarcinoma(10;4.24e-37)		GAGGAGGATGCGGCTGCCCTG	0.547													22	41					0	0	1	0	0	T	56777838	C	T	56777838	3	4	153	1	0	0	0	0	1	0	0	0	194	768	27	1	437	1	ACTBL2	5	56777838	Missense_Mutation	SNP	C	TCGA-DU-A7TJ-01A-11D-A34J-08		56777838	124137422	16	22749											
PIK3R1	5295	broad.mit.edu	37	5	67591150	67591151	+	Splice_Site	DEL	GA	GA	-			TCGA-DU-A7TJ-01A-11D-A34J-08	TCGA-DU-A7TJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e423faad-225f-4505-b3ae-0b142263357d	06cf2071-92a5-4732-a699-a6d86bd996b0	g.chr5:67591150_67591151delGA	ENST00000521381.1	+	13	2359_2360	c.1743_1744delGA	c.(1741-1746)ttgatg>tttg	p.LM581fs	PIK3R1_ENST00000336483.5_Splice_Site_p.LM311fs|PIK3R1_ENST00000521657.1_Splice_Site_p.LM581fs|PIK3R1_ENST00000523872.1_Splice_Site_p.LM218fs|PIK3R1_ENST00000274335.5_Splice_Site_p.LM581fs|PIK3R1_ENST00000320694.8_Splice_Site_p.LM281fs|PIK3R1_ENST00000396611.1_Splice_Site_p.LM581fs	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	581					epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.R577_M582>K(1)|p.Y580fs*1(1)|p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	ACCAATACTTGATGTAAGTATT	0.376			"Mis, F, O"		"gliobastoma, ovarian, colorectal"					TCGA GBM(4;<1E-08)			18	48	---	---	---	---						-	67591151	GA	-	67591150	8	5	153	1	0	1	0	1	0	0	1	0	11966	1281	45	0	1919	0	PIK3R1	5	67591150	Splice_Site	DEL	GA	TCGA-DU-A7TJ-01A-11D-A34J-08	10813312	67591150	113324110	17	22750	114	2									
PIK3R1	5295	broad.mit.edu	37	5	67591153	67591153	+	Splice_Site	DEL	G	G	-			TCGA-DU-A7TJ-01A-11D-A34J-08	TCGA-DU-A7TJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e423faad-225f-4505-b3ae-0b142263357d	06cf2071-92a5-4732-a699-a6d86bd996b0	g.chr5:67591153delG	ENST00000521381.1	+	13	2361		c.e13+1		PIK3R1_ENST00000336483.5_Splice_Site|PIK3R1_ENST00000521657.1_Splice_Site|PIK3R1_ENST00000523872.1_Splice_Site|PIK3R1_ENST00000274335.5_Splice_Site|PIK3R1_ENST00000320694.8_Splice_Site|PIK3R1_ENST00000396611.1_Splice_Site	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)						epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.R577_M582>K(1)|p.Y580fs*1(1)|p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	AATACTTGATGTAAGTATTTG	0.373			"Mis, F, O"		"gliobastoma, ovarian, colorectal"					TCGA GBM(4;<1E-08)			35	28	---	---	---	---						-	67591153	G	-	67591153	8	5	153	1	0	1	0	1	0	0	1	0	11966	1391	48	0	1922	0	PIK3R1	5	67591153	Splice_Site	DEL	G	TCGA-DU-A7TJ-01A-11D-A34J-08	3	67591153	113324107	18	22751	114	2									
TRIM15	89870	broad.mit.edu	37	6	30136149	30136149	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-A7TJ-01A-11D-A34J-08	TCGA-DU-A7TJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e423faad-225f-4505-b3ae-0b142263357d	06cf2071-92a5-4732-a699-a6d86bd996b0	g.chr6:30136149C>T	ENST00000376694.4	+	3	1019	c.550C>T	c.(550-552)Cga>Tga	p.R184*	TRIM15_ENST00000376688.1_Intron	NM_033229.2	NP_150232.2	Q9C019	TRI15_HUMAN	tripartite motif containing 15	184					mesodermal cell fate determination	intracellular	zinc ion binding			large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	14						GGAGCAGCAGCGATGTCTCCT	0.527													19	27					0	0	1	0	0	T	30136149	C	T	30136149	4	4	153	1	0	0	0	0	0	1	0	0	16551	760	27	1	560	1	TRIM15	6	30136149	Nonsense_Mutation	SNP	C	TCGA-DU-A7TJ-01A-11D-A34J-08		30136149	140978918	19	22752											
NOTCH4	4855	broad.mit.edu	37	6	32181593	32181593	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-A7TJ-01A-11D-A34J-08	TCGA-DU-A7TJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e423faad-225f-4505-b3ae-0b142263357d	06cf2071-92a5-4732-a699-a6d86bd996b0	g.chr6:32181593G>T	ENST00000375023.3	-	14	2330	c.2192C>A	c.(2191-2193)aCa>aAa	p.T731K	NOTCH4_ENST00000465528.1_5'UTR	NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	731	EGF-like 19.				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						GTGACAAGCTGTCATCTCCTC	0.597													3	41					1	1	1	1	0	T	32181593	G	T	32181593	3	4	153	1	0	0	0	0	1	0	0	0	10598	1377	48	5	3887	5	NOTCH4	6	32181593	Missense_Mutation	SNP	G	TCGA-DU-A7TJ-01A-11D-A34J-08	2045444	32181593	138933474	20	22753											
KIAA0408	9729	broad.mit.edu	37	6	127771491	127771491	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A7TJ-01A-11D-A34J-08	TCGA-DU-A7TJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e423faad-225f-4505-b3ae-0b142263357d	06cf2071-92a5-4732-a699-a6d86bd996b0	g.chr6:127771491G>A	ENST00000483725.3	-	3	478	c.142C>T	c.(142-144)Cgg>Tgg	p.R48W	SOGA3_ENST00000556132.1_3'UTR|SOGA3_ENST00000481848.2_3'UTR|SOGA3_ENST00000368268.2_3'UTR	NM_014702.4	NP_055517.3	Q6ZU52	K0408_HUMAN	KIAA0408	48							protein binding			endometrium(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|skin(1)	28				GBM - Glioblastoma multiforme(226;0.0217)|all cancers(137;0.13)		TTTACTTCCCGGCAAAGCTGT	0.338													4	65					0	0	1	0	0	A	127771491	G	A	127771491	3	1	153	1	0	0	0	0	1	0	0	0	8216	1115	39	1	1958	1	KIAA0408	6	127771491	Missense_Mutation	SNP	G	TCGA-DU-A7TJ-01A-11D-A34J-08	95589898	127771491	43343576	21	22754											
TMEM130	222865	broad.mit.edu	37	7	98453658	98453658	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A7TJ-01A-11D-A34J-08	TCGA-DU-A7TJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e423faad-225f-4505-b3ae-0b142263357d	06cf2071-92a5-4732-a699-a6d86bd996b0	g.chr7:98453658C>T	ENST00000450876.1	-	4	1763	c.448G>A	c.(448-450)Gcc>Acc	p.A150T	TMEM130_ENST00000546258.1_Missense_Mutation_p.A215T|TMEM130_ENST00000416379.2_Missense_Mutation_p.A234T|TMEM130_ENST00000345589.4_Missense_Mutation_p.A132T|TMEM130_ENST00000339375.4_Missense_Mutation_p.A234T			Q8N3G9	TM130_HUMAN	transmembrane protein 130	234	PKD.					Golgi membrane|integral to membrane				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	25	all_cancers(62;4.05e-09)|all_epithelial(64;2.62e-09)|Lung NSC(181;0.01)|all_lung(186;0.0115)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TTCAGCGAGGCGGAGAAGTCC	0.632													8	23					0	0	1	0	0	T	98453658	C	T	98453658	3	4	153	1	0	0	0	0	1	0	0	0	16103	768	27	1	627	1	TMEM130	7	98453658	Missense_Mutation	SNP	C	TCGA-DU-A7TJ-01A-11D-A34J-08		98453658	60685005	22	22755											
SLC26A3	1811	broad.mit.edu	37	7	107427813	107427813	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A7TJ-01A-11D-A34J-08	TCGA-DU-A7TJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e423faad-225f-4505-b3ae-0b142263357d	06cf2071-92a5-4732-a699-a6d86bd996b0	g.chr7:107427813C>T	ENST00000340010.5	-	7	1061	c.877G>A	c.(877-879)Gaa>Aaa	p.E293K	SLC26A3_ENST00000422236.2_Missense_Mutation_p.E258K	NM_000111.2	NP_000102.1	P40879	S26A3_HUMAN	solute carrier family 26 (anion exchanger), member 3	293					excretion	integral to membrane|membrane fraction	inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						ATAATGAATTCGATTGGAATG	0.378													72	142					0	0	1	0	0	T	107427813	C	T	107427813	3	4	153	1	0	0	0	0	1	0	0	0	14573	893	31	1	1477	1	SLC26A3	7	107427813	Missense_Mutation	SNP	C	TCGA-DU-A7TJ-01A-11D-A34J-08	8974155	107427813	51710850	23	22756											
PCSK5	5125	broad.mit.edu	37	9	78943064	78943064	+	Silent	SNP	C	C	T			TCGA-DU-A7TJ-01A-11D-A34J-08	TCGA-DU-A7TJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e423faad-225f-4505-b3ae-0b142263357d	06cf2071-92a5-4732-a699-a6d86bd996b0	g.chr9:78943064C>T	ENST00000545128.1	+	32	4936	c.4398C>T	c.(4396-4398)ccC>ccT	p.P1466P		NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	633					anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						AGGATGCTCCCGGGTGCAAGC	0.582													61	75					0	0	1	0	0	T	78943064	C	T	78943064	2	4	153	1	0	0	0	0	0	0	0	1	11650	667	23	1		1	PCSK5	9	78943064	Silent	SNP	C	TCGA-DU-A7TJ-01A-11D-A34J-08		78943064	62270367	24	22757											
C9orf3	84909	broad.mit.edu	37	9	97844955	97844955	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A7TJ-01A-11D-A34J-08	TCGA-DU-A7TJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e423faad-225f-4505-b3ae-0b142263357d	06cf2071-92a5-4732-a699-a6d86bd996b0	g.chr9:97844955G>A	ENST00000375315.2	+	15	2418	c.2418G>A	c.(2416-2418)atG>atA	p.M806I	C9orf3_ENST00000297979.5_Missense_Mutation_p.M707I|C9orf3_ENST00000433691.2_Missense_Mutation_p.M147I|C9orf3_ENST00000425634.2_Missense_Mutation_p.M168I	NM_001193329.1	NP_001180258.1	Q8N6M6	AMPO_HUMAN	chromosome 9 open reading frame 3	806					leukotriene biosynthetic process|proteolysis	cytoplasm	aminopeptidase activity|metallopeptidase activity|zinc ion binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(323;0.000275)		AGGAGCAGATGGATAGGTCCT	0.527													24	32					0	0	1	0	0	A	97844955	G	A	97844955	3	1	153	1	0	0	0	0	1	0	0	0	2495	1348	47	2	2171	2	C9orf3	9	97844955	Missense_Mutation	SNP	G	TCGA-DU-A7TJ-01A-11D-A34J-08	18901891	97844955	43368476	25	22758											
ZNF618	114991	broad.mit.edu	37	9	116798603	116798603	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DU-A7TJ-01A-11D-A34J-08	TCGA-DU-A7TJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e423faad-225f-4505-b3ae-0b142263357d	06cf2071-92a5-4732-a699-a6d86bd996b0	g.chr9:116798603delG	ENST00000288466.7	+	12	1012	c.913delG	c.(913-915)gggfs	p.G305fs	ZNF618_ENST00000374126.5_Frame_Shift_Del_p.G398fs|ZNF618_ENST00000470105.1_3'UTR	NM_133374.2	NP_588615.2	Q5T7W0	ZN618_HUMAN	zinc finger protein 618	398					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|lung(10)|urinary_tract(1)	16						CGGCGCCTGTGGGATCCAGTT	0.587													2	4	---	---	---	---						-	116798603	G	-	116798603	7	5	153	1	0	1	0	1	0	0	0	0	18099	1348	47	0	959	0	ZNF618	9	116798603	Frame_Shift_Del	DEL	G	TCGA-DU-A7TJ-01A-11D-A34J-08	18953648	116798603	24414828	26	22759											
OR1N1	138883	broad.mit.edu	37	9	125289050	125289050	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-A7TJ-01A-11D-A34J-08	TCGA-DU-A7TJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e423faad-225f-4505-b3ae-0b142263357d	06cf2071-92a5-4732-a699-a6d86bd996b0	g.chr9:125289050A>G	ENST00000304880.2	-	1	522	c.523T>C	c.(523-525)Ttt>Ctt	p.F175L		NM_012363.1	NP_036495.1	Q8NGS0	OR1N1_HUMAN	olfactory receptor, family 1, subfamily N, member 1	175					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|large_intestine(2)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						TCACAGAAAAAGTGAGCAATT	0.502													20	19					0	0	1	0	0	G	125289050	A	G	125289050	3	3	153	1	0	0	0	0	1	0	0	0	11017	72	3	3	416	3	OR1N1	9	125289050	Missense_Mutation	SNP	A	TCGA-DU-A7TJ-01A-11D-A34J-08	8490447	125289050	15924381	27	22760											
OR5C1	392391	broad.mit.edu	37	9	125551964	125551964	+	Silent	SNP	C	C	T			TCGA-DU-A7TJ-01A-11D-A34J-08	TCGA-DU-A7TJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e423faad-225f-4505-b3ae-0b142263357d	06cf2071-92a5-4732-a699-a6d86bd996b0	g.chr9:125551964C>T	ENST00000373680.2	+	1	815	c.753C>T	c.(751-753)gcC>gcT	p.A251A		NM_001001923.1	NP_001001923.1	Q8NGR4	OR5C1_HUMAN	olfactory receptor, family 5, subfamily C, member 1	251					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(5)|skin(1)	20						ACCTCACAGCCGTGGCCATGA	0.597													34	50					0	0	1	0	0	T	125551964	C	T	125551964	2	4	153	1	0	0	0	0	0	0	0	1	11200	639	23	1		1	OR5C1	9	125551964	Silent	SNP	C	TCGA-DU-A7TJ-01A-11D-A34J-08	262914	125551964	15661467	28	22761											
CACNA1B	774	broad.mit.edu	37	9	140964211	140964211	+	Splice_Site	SNP	A	A	T			TCGA-DU-A7TJ-01A-11D-A34J-08	TCGA-DU-A7TJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e423faad-225f-4505-b3ae-0b142263357d	06cf2071-92a5-4732-a699-a6d86bd996b0	g.chr9:140964211A>T	ENST00000371372.1	+	32	4815	c.4670A>T	c.(4669-4671)gAa>gTa	p.E1557V	CACNA1B_ENST00000371355.4_Intron|CACNA1B_ENST00000371357.1_Intron|CACNA1B_ENST00000277549.5_Intron|CACNA1B_ENST00000277551.2_Splice_Site_p.E1557V|CACNA1B_ENST00000371363.1_Intron	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	1557					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	CACATGTAGGAAACGGTTGGT	0.488													4	6					0	0	1	0	0	T	140964211	A	T	140964211	5	4	153	1	0	0	0	0	0	0	1	0	2557	261	9	5		5	CACNA1B	9	140964211	Splice_Site	SNP	A	TCGA-DU-A7TJ-01A-11D-A34J-08	15412247	140964211	249220	29	22762											
OR9G4	283189	broad.mit.edu	37	11	56510346	56510346	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-A7TJ-01A-11D-A34J-08	TCGA-DU-A7TJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e423faad-225f-4505-b3ae-0b142263357d	06cf2071-92a5-4732-a699-a6d86bd996b0	g.chr11:56510346C>A	ENST00000302957.3	-	1	941	c.942G>T	c.(940-942)gaG>gaT	p.E314D		NM_001005284.1	NP_001005284.1	Q8NGQ1	OR9G4_HUMAN	olfactory receptor, family 9, subfamily G, member 4	314					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						TCCTGAAGGCCTCTTTGATAT	0.408													52	71					2.64514e-33	3.065e-33	1	1	0	A	56510346	C	A	56510346	3	1	153	1	0	0	0	0	1	0	0	0	11298	680	24	4	44	4	OR9G4	11	56510346	Missense_Mutation	SNP	C	TCGA-DU-A7TJ-01A-11D-A34J-08		56510346	78496170	30	22763											
OR10G8	219869	broad.mit.edu	37	11	123901065	123901065	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A7TJ-01A-11D-A34J-08	TCGA-DU-A7TJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e423faad-225f-4505-b3ae-0b142263357d	06cf2071-92a5-4732-a699-a6d86bd996b0	g.chr11:123901065G>A	ENST00000431524.1	+	1	769	c.736G>A	c.(736-738)Gtg>Atg	p.V246M		NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G, member 8	246					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		CCACTGTATCGTGGTCCTTTG	0.542													57	64					0	0	1	0	0	A	123901065	G	A	123901065	3	1	153	1	0	0	0	0	1	0	0	0	10951	1145	40	1	738	1	OR10G8	11	123901065	Missense_Mutation	SNP	G	TCGA-DU-A7TJ-01A-11D-A34J-08	67390719	123901065	11105451	31	22764											
ETNK1	55500	broad.mit.edu	37	12	22778194	22778194	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-A7TJ-01A-11D-A34J-08	TCGA-DU-A7TJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e423faad-225f-4505-b3ae-0b142263357d	06cf2071-92a5-4732-a699-a6d86bd996b0	g.chr12:22778194A>G	ENST00000266517.4	+	1	186	c.97A>G	c.(97-99)Aac>Gac	p.N33D	ETNK1_ENST00000335148.3_Missense_Mutation_p.N33D	NM_018638.4	NP_061108.2	Q9HBU6	EKI1_HUMAN	ethanolamine kinase 1	33					phosphatidylethanolamine biosynthetic process	cytoplasm	ATP binding|ethanolamine kinase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						CCGGATCGGCAACAGTGCCGC	0.711													5	12					0	0	1	0	0	G	22778194	A	G	22778194	3	3	153	1	0	0	0	0	1	0	0	0	5301	130	5	3	99	3	ETNK1	12	22778194	Missense_Mutation	SNP	A	TCGA-DU-A7TJ-01A-11D-A34J-08		22778194	111073701	32	22765											
MTUS2	23281	broad.mit.edu	37	13	29600875	29600875	+	Silent	SNP	C	C	T			TCGA-DU-A7TJ-01A-11D-A34J-08	TCGA-DU-A7TJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e423faad-225f-4505-b3ae-0b142263357d	06cf2071-92a5-4732-a699-a6d86bd996b0	g.chr13:29600875C>T	ENST00000431530.3	+	1	2128	c.2070C>T	c.(2068-2070)caC>caT	p.H690H		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	680	Mediates interaction with MAPRE1.					cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						CTCTTCCCCACGAAGAGAAGG	0.582													13	18					0	0	1	0	0	T	29600875	C	T	29600875	2	4	153	1	0	0	0	0	0	0	0	1	10014	535	19	1		1	MTUS2	13	29600875	Silent	SNP	C	TCGA-DU-A7TJ-01A-11D-A34J-08		29600875	85569003	33	22766											
TNFSF13B	10673	broad.mit.edu	37	13	108922745	108922745	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A7TJ-01A-11D-A34J-08	TCGA-DU-A7TJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e423faad-225f-4505-b3ae-0b142263357d	06cf2071-92a5-4732-a699-a6d86bd996b0	g.chr13:108922745C>T	ENST00000375887.4	+	2	575	c.397C>T	c.(397-399)Cgt>Tgt	p.R133C	TNFSF13B_ENST00000542136.1_Missense_Mutation_p.R133C|TNFSF13B_ENST00000430559.1_Missense_Mutation_p.R133C|TNFSF13B_ENST00000479435.1_3'UTR	NM_006573.4	NP_006564.1	Q9Y275	TN13B_HUMAN	tumor necrosis factor (ligand) superfamily, member 13b	133		Cleavage.			cell proliferation|immune response|signal transduction	extracellular space|integral to membrane|plasma membrane|soluble fraction	cytokine activity|tumor necrosis factor receptor binding			large_intestine(1)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	10	all_lung(23;0.000396)|all_neural(89;0.00256)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00902)|Lung SC(71;0.104)		all cancers(43;0.184)|BRCA - Breast invasive adenocarcinoma(86;0.19)			CAGAAATAAGCGTGCCGTTCA	0.463													23	48					0	0	1	0	0	T	108922745	C	T	108922745	3	4	153	1	0	0	0	0	1	0	0	0	16366	768	27	1	403	1	TNFSF13B	13	108922745	Missense_Mutation	SNP	C	TCGA-DU-A7TJ-01A-11D-A34J-08	79321870	108922745	6247133	34	22767											
OR4K13	390433	broad.mit.edu	37	14	20502653	20502653	+	Missense_Mutation	SNP	G	G	A	rs149397731	byFrequency	TCGA-DU-A7TJ-01A-11D-A34J-08	TCGA-DU-A7TJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e423faad-225f-4505-b3ae-0b142263357d	06cf2071-92a5-4732-a699-a6d86bd996b0	g.chr14:20502653G>A	ENST00000315693.2	-	1	266	c.265C>T	c.(265-267)Cgt>Tgt	p.R89C		NM_001004714.1	NP_001004714.1	Q8NH42	OR4KD_HUMAN	olfactory receptor, family 4, subfamily K, member 13	89					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)	24	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		ATGGTCTTACGTTCTCGGAGG	0.453													21	27					0	0	1	0	0	A	20502653	G	A	20502653	3	1	153	1	0	0	0	0	1	0	0	0	11116	1145	40	1	651	1	OR4K13	14	20502653	Missense_Mutation	SNP	G	TCGA-DU-A7TJ-01A-11D-A34J-08		20502653	86846887	35	22768											
MEIS2	4212	broad.mit.edu	37	15	37186973	37186973	+	Silent	SNP	C	C	T			TCGA-DU-A7TJ-01A-11D-A34J-08	TCGA-DU-A7TJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e423faad-225f-4505-b3ae-0b142263357d	06cf2071-92a5-4732-a699-a6d86bd996b0	g.chr15:37186973C>T	ENST00000444725.1	-	12	2203	c.1167G>A	c.(1165-1167)ggG>ggA	p.G389G	MEIS2_ENST00000340545.5_Silent_p.G376G|MEIS2_ENST00000338564.5_Intron|MEIS2_ENST00000397620.2_Silent_p.G301G|MEIS2_ENST00000219869.9_Silent_p.G250G|MEIS2_ENST00000557796.2_Silent_p.G376G|MEIS2_ENST00000382766.2_Intron|MEIS2_ENST00000397624.3_Silent_p.G301G|MEIS2_ENST00000559085.1_Silent_p.G383G|MEIS2_ENST00000559561.1_Silent_p.G389G|MEIS2_ENST00000424352.2_Silent_p.G396G|MEIS2_ENST00000561208.1_Intron	NM_170674.4|NM_170677.4	NP_733774.1|NP_733777.1	O14770	MEIS2_HUMAN	Meis homeobox 2	396					negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	36		all_epithelial(112;9.77e-14)|Lung NSC(122;1.42e-09)|all_lung(180;2.2e-08)|Ovarian(310;0.134)|Melanoma(134;0.155)		all cancers(64;9.33e-21)|GBM - Glioblastoma multiforme(113;1.71e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0288)		AGTGCCATTGCCCATCCATGC	0.438													4	131					0	0	1	0	0	T	37186973	C	T	37186973	2	4	153	1	0	0	0	0	0	0	0	1	9518	726	26	2		2	MEIS2	15	37186973	Silent	SNP	C	TCGA-DU-A7TJ-01A-11D-A34J-08		37186973	65344419	36	22769											
CRAMP1L	57585	broad.mit.edu	37	16	1715128	1715128	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-A7TJ-01A-11D-A34J-08	TCGA-DU-A7TJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e423faad-225f-4505-b3ae-0b142263357d	06cf2071-92a5-4732-a699-a6d86bd996b0	g.chr16:1715128C>G	ENST00000397412.3	+	14	2840	c.2741C>G	c.(2740-2742)tCt>tGt	p.S914C	LA16c-431H6.6_ENST00000454337.1_3'UTR|CRAMP1L_ENST00000293925.5_Missense_Mutation_p.S914C|CRAMP1L_ENST00000436138.3_Missense_Mutation_p.S911C|CRAMP1L_ENST00000262317.4_Missense_Mutation_p.S292C			Q96RY5	CRML_HUMAN	Crm, cramped-like (Drosophila)	914						nucleus	DNA binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)	22						CTGTCTAACTCTTCCGTAACT	0.507													13	25					0	0	1	0	0	G	1715128	C	G	1715128	3	3	153	1	0	0	0	0	1	0	0	0	3869	913	32	4	2791	4	CRAMP1L	16	1715128	Missense_Mutation	SNP	C	TCGA-DU-A7TJ-01A-11D-A34J-08		1715128	88639625	37	22770											
ARHGAP27	201176	broad.mit.edu	37	17	43475375	43475375	+	Silent	SNP	G	G	A	rs138914274		TCGA-DU-A7TJ-01A-11D-A34J-08	TCGA-DU-A7TJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e423faad-225f-4505-b3ae-0b142263357d	06cf2071-92a5-4732-a699-a6d86bd996b0	g.chr17:43475375G>A	ENST00000532038.1	-	9	1251	c.1116C>T	c.(1114-1116)caC>caT	p.H372H	ARHGAP27_ENST00000376922.2_Silent_p.H253H|ARHGAP27_ENST00000442348.1_Silent_p.H567H|ARHGAP27_ENST00000455881.1_Silent_p.H253H|ARHGAP27_ENST00000532891.2_Silent_p.H572H|ARHGAP27_ENST00000528384.1_Silent_p.H226H|ARHGAP27_ENST00000428638.1_Silent_p.H594H|ARHGAP27_ENST00000582826.1_5'UTR			Q6ZUM4	RHG27_HUMAN	Rho GTPase activating protein 27	594					positive regulation of Cdc42 GTPase activity|receptor-mediated endocytosis|signal transduction	cytoplasm|membrane	Rac GTPase activator activity|SH3 domain binding			endometrium(4)|large_intestine(9)|lung(3)|skin(1)	17	Renal(3;0.0405)					CCTCCGAGTCGTGCTGGATCA	0.632													32	41					0	0	1	0	0	A	43475375	G	A	43475375	2	1	153	1	0	0	0	0	0	0	0	1	873	1136	40	1		1	ARHGAP27	17	43475375	Silent	SNP	G	TCGA-DU-A7TJ-01A-11D-A34J-08		43475375	37719835	38	22771											
IGF2BP1	10642	broad.mit.edu	37	17	47120867	47120867	+	Silent	SNP	G	G	A			TCGA-DU-A7TJ-01A-11D-A34J-08	TCGA-DU-A7TJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e423faad-225f-4505-b3ae-0b142263357d	06cf2071-92a5-4732-a699-a6d86bd996b0	g.chr17:47120867G>A	ENST00000290341.3	+	10	1489	c.1155G>A	c.(1153-1155)ccG>ccA	p.P385P	IGF2BP1_ENST00000431824.2_Silent_p.P246P	NM_006546.3	NP_006537.3	Q9NZI8	IF2B1_HUMAN	insulin-like growth factor 2 mRNA binding protein 1	385	Necessary for interaction with ELAVL4 and binding to TAU mRNA (By similarity).				CRD-mediated mRNA stabilization|negative regulation of translation|regulation of mRNA stability involved in response to stress	CRD-mediated mRNA stability complex|cytosol|dendritic spine|lamellipodium|nucleus|plasma membrane|stress granule	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						CAGTCCCGCCGCCTCCCAGCA	0.572													25	28					0	0	1	0	0	A	47120867	G	A	47120867	2	1	153	1	0	0	0	0	0	0	0	1	7617	1074	38	1		1	IGF2BP1	17	47120867	Silent	SNP	G	TCGA-DU-A7TJ-01A-11D-A34J-08	3645492	47120867	34074343	39	22772											
USP36	57602	broad.mit.edu	37	17	76803536	76803536	+	Silent	SNP	G	G	A			TCGA-DU-A7TJ-01A-11D-A34J-08	TCGA-DU-A7TJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e423faad-225f-4505-b3ae-0b142263357d	06cf2071-92a5-4732-a699-a6d86bd996b0	g.chr17:76803536G>A	ENST00000542802.3	-	14	2033	c.1590C>T	c.(1588-1590)gaC>gaT	p.D530D	USP36_ENST00000449938.2_Silent_p.D230D|USP36_ENST00000312010.6_Silent_p.D530D			Q9P275	UBP36_HUMAN	ubiquitin specific peptidase 36						ubiquitin-dependent protein catabolic process	nucleolus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	34			BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151)			TTCCAGGGTCGTCTAGGATGG	0.587													14	16					0	0	1	0	0	A	76803536	G	A	76803536	2	1	153	1	0	0	0	0	0	0	0	1	17127	1136	40	1		1	USP36	17	76803536	Silent	SNP	G	TCGA-DU-A7TJ-01A-11D-A34J-08	29682669	76803536	4391674	40	22773											
LPIN2	9663	broad.mit.edu	37	18	2951271	2951271	+	Silent	SNP	T	T	C			TCGA-DU-A7TJ-01A-11D-A34J-08	TCGA-DU-A7TJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e423faad-225f-4505-b3ae-0b142263357d	06cf2071-92a5-4732-a699-a6d86bd996b0	g.chr18:2951271T>C	ENST00000261596.4	-	4	610	c.372A>G	c.(370-372)aaA>aaG	p.K124K	RP11-737O24.2_ENST00000584431.1_RNA	NM_014646.2	NP_055461.1	Q92539	LPIN2_HUMAN	lipin 2	124					fatty acid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|triglyceride biosynthetic process	cytosol|endoplasmic reticulum membrane|nucleus	phosphatidate phosphatase activity|transcription coactivator activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	29				READ - Rectum adenocarcinoma(2;0.0419)|Colorectal(6;0.156)		CTCCACCCGATTTCACCAAAG	0.413													54	60					0	0	1	0	0	C	2951271	T	C	2951271	2	2	153	1	0	0	0	0	0	0	0	1	8964	1490	52	3		3	LPIN2	18	2951271	Silent	SNP	T	TCGA-DU-A7TJ-01A-11D-A34J-08		2951271	75125977	41	22774											
EID2B	126272	broad.mit.edu	37	19	40023046	40023046	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-A7TJ-01A-11D-A34J-08	TCGA-DU-A7TJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e423faad-225f-4505-b3ae-0b142263357d	06cf2071-92a5-4732-a699-a6d86bd996b0	g.chr19:40023046C>G	ENST00000326282.4	-	1	448	c.397G>C	c.(397-399)Gac>Cac	p.D133H	EID2B_ENST00000601837.1_Intron	NM_152361.1	NP_689574.1	Q96D98	EID2B_HUMAN	EP300 interacting inhibitor of differentiation 2B	133					cell differentiation|muscle organ development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				endometrium(1)|lung(1)|urinary_tract(1)	3	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;8.61e-26)|all cancers(26;2.76e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			GGATCCGCGTCAAAGGCTGCT	0.602													20	55					0	0	1	0	0	G	40023046	C	G	40023046	3	3	153	1	0	0	0	0	1	0	0	0	5014	826	29	5	92	5	EID2B	19	40023046	Missense_Mutation	SNP	C	TCGA-DU-A7TJ-01A-11D-A34J-08		40023046	19105937	42	22775											
ZSCAN22	342945	broad.mit.edu	37	19	58846117	58846117	+	Splice_Site	SNP	G	G	T			TCGA-DU-A7TJ-01A-11D-A34J-08	TCGA-DU-A7TJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e423faad-225f-4505-b3ae-0b142263357d	06cf2071-92a5-4732-a699-a6d86bd996b0	g.chr19:58846117G>T	ENST00000329665.4	+	2	96		c.e2-1			NM_181846.2	NP_862829.1	P10073	ZSC22_HUMAN	zinc finger and SCAN domain containing 22						viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|pancreas(1)|prostate(2)	16		all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0289)		CATTCCTGCAGGCCCAGTTCC	0.597													4	10					0.150653	0.154897	1	1	0	T	58846117	G	T	58846117	5	4	153	1	0	0	0	0	0	0	1	0	18275	1014	35	4		4	ZSCAN22	19	58846117	Splice_Site	SNP	G	TCGA-DU-A7TJ-01A-11D-A34J-08	18823071	58846117	282866	43	22776											
SPEF1	25876	broad.mit.edu	37	20	3760357	3760357	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A7TJ-01A-11D-A34J-08	TCGA-DU-A7TJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e423faad-225f-4505-b3ae-0b142263357d	06cf2071-92a5-4732-a699-a6d86bd996b0	g.chr20:3760357C>T	ENST00000379756.3	-	2	335	c.175G>A	c.(175-177)Gcc>Acc	p.A59T	SPEF1_ENST00000463490.1_5'UTR	NM_015417.4	NP_056232.2	Q9Y4P9	SPEF1_HUMAN	sperm flagellar 1	59						cilium axoneme|cytoplasm|cytoskeleton				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	8						AGAGAGTTGGCGGGGACATAA	0.537													21	40					0	0	1	0	0	T	3760357	C	T	3760357	3	4	153	1	0	0	0	0	1	0	0	0	15090	768	27	1	559	1	SPEF1	20	3760357	Missense_Mutation	SNP	C	TCGA-DU-A7TJ-01A-11D-A34J-08		3760357	59265163	44	22777											
PXMP4	11264	broad.mit.edu	37	20	32308005	32308005	+	Silent	SNP	G	G	C			TCGA-DU-A7TJ-01A-11D-A34J-08	TCGA-DU-A7TJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e423faad-225f-4505-b3ae-0b142263357d	06cf2071-92a5-4732-a699-a6d86bd996b0	g.chr20:32308005G>C	ENST00000409299.3	-	1	101	c.9C>G	c.(7-9)gcC>gcG	p.A3A	PXMP4_ENST00000344022.3_Silent_p.A3A|PXMP4_ENST00000217398.3_Silent_p.A3A	NM_007238.4	NP_009169.3	Q9Y6I8	PXMP4_HUMAN	peroxisomal membrane protein 4, 24kDa	3						integral to membrane|membrane fraction|mitochondrial inner membrane|peroxisomal membrane	protein transporter activity			NS(1)|endometrium(2)|large_intestine(2)|lung(8)	13						GCTGCGGCGGGGCTGCCATAG	0.682													10	19					0	0	1	0	0	C	32308005	G	C	32308005	2	2	153	1	0	0	0	0	0	0	0	1	12903	1219	43	5		5	PXMP4	20	32308005	Silent	SNP	G	TCGA-DU-A7TJ-01A-11D-A34J-08	28547648	32308005	30717515	45	22778											
NCOA3	8202	broad.mit.edu	37	20	46279833	46279833	+	Silent	SNP	G	G	A			TCGA-DU-A7TJ-01A-11D-A34J-08	TCGA-DU-A7TJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e423faad-225f-4505-b3ae-0b142263357d	06cf2071-92a5-4732-a699-a6d86bd996b0	g.chr20:46279833G>A	ENST00000372004.3	+	20	3963	c.3747G>A	c.(3745-3747)caG>caA	p.Q1249Q	NCOA3_ENST00000341724.6_Silent_p.Q1179Q|NCOA3_ENST00000371997.3_Silent_p.Q1244Q|NCOA3_ENST00000371998.3_Silent_p.Q1253Q	NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2	NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1	Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	1253	Acetyltransferase.|Poly-Gln.		Missing.		androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding			breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						agcagcagcagcaacagcagc	0.547													4	92					0	0	1	0	0	A	46279833	G	A	46279833	2	1	153	1	0	0	0	0	0	0	0	1	10277	962	34	2		2	NCOA3	20	46279833	Silent	SNP	G	TCGA-DU-A7TJ-01A-11D-A34J-08	13971828	46279833	16745687	46	22779											
BAGE2	85319	broad.mit.edu	37	21	11098794	11098794	+	RNA	SNP	C	C	T			TCGA-DU-A7TJ-01A-11D-A34J-08	TCGA-DU-A7TJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e423faad-225f-4505-b3ae-0b142263357d	06cf2071-92a5-4732-a699-a6d86bd996b0	g.chr21:11098794C>T	ENST00000470054.1	-	0	131									B melanoma antigen family, member 2															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)		actccagctgcgctgccatct	0.627													8	66					0	0	1	0	0	T	11098794	C	T	11098794	1	4	153	0	1	0	0	0	0	0	0	0	1290	783	27	1		1	BAGE2	21	11098794	RNA	SNP	C	TCGA-DU-A7TJ-01A-11D-A34J-08		11098794	37031101	47	22780											
PFKL	5211	broad.mit.edu	37	21	45732145	45732145	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-A7TJ-01A-11D-A34J-08	TCGA-DU-A7TJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e423faad-225f-4505-b3ae-0b142263357d	06cf2071-92a5-4732-a699-a6d86bd996b0	g.chr21:45732145G>A	ENST00000403390.1	+	5	536	c.536G>A	c.(535-537)tGg>tAg	p.W179*	PFKL_ENST00000496824.1_3'UTR|PFKL_ENST00000349048.4_Nonsense_Mutation_p.W132*			P17858	K6PL_HUMAN	phosphofructokinase, liver	132					fructose 6-phosphate metabolic process|glycolysis|protein oligomerization	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|fructose-6-phosphate binding|identical protein binding|kinase binding|metal ion binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	23				Colorectal(79;0.0811)		CGCAGCGAGTGGGGCAGCCTG	0.662													5	15					0	0	1	0	0	A	45732145	G	A	45732145	4	1	153	1	0	0	0	0	0	1	0	0	11812	1357	47	2	409	2	PFKL	21	45732145	Nonsense_Mutation	SNP	G	TCGA-DU-A7TJ-01A-11D-A34J-08	34633351	45732145	2397750	48	22781											
PPIL2	23759	broad.mit.edu	37	22	22024879	22024879	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A7TJ-01A-11D-A34J-08	TCGA-DU-A7TJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e423faad-225f-4505-b3ae-0b142263357d	06cf2071-92a5-4732-a699-a6d86bd996b0	g.chr22:22024879G>A	ENST00000335025.8	+	3	198	c.107G>A	c.(106-108)cGt>cAt	p.R36H	PPIL2_ENST00000492445.2_Missense_Mutation_p.R36H|PPIL2_ENST00000412327.1_Missense_Mutation_p.R36H|PPIL2_ENST00000406385.1_Missense_Mutation_p.R36H|PPIL2_ENST00000456792.2_Missense_Mutation_p.R36H|PPIL2_ENST00000398831.3_Missense_Mutation_p.R36H			Q13356	PPIL2_HUMAN	peptidylprolyl isomerase (cyclophilin)-like 2						blood coagulation|leukocyte migration|protein folding|protein polyubiquitination	Golgi lumen|nucleus|ubiquitin ligase complex	peptidyl-prolyl cis-trans isomerase activity|ubiquitin-ubiquitin ligase activity			endometrium(4)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	17	Colorectal(54;0.105)					AATTTTCGTCGTTTACCTTTT	0.373													81	122					0	0	1	0	0	A	22024879	G	A	22024879	3	1	153	1	0	0	0	0	1	0	0	0	12376	1145	40	1	117	1	PPIL2	22	22024879	Missense_Mutation	SNP	G	TCGA-DU-A7TJ-01A-11D-A34J-08		22024879	29279687	49	22782											
GAGE2D	729408	broad.mit.edu	37	X	49208295	49208296	+	In_Frame_Ins	INS	-	-	TAT			TCGA-DU-A7TJ-01A-11D-A34J-08	TCGA-DU-A7TJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e423faad-225f-4505-b3ae-0b142263357d	06cf2071-92a5-4732-a699-a6d86bd996b0	g.chrX:49208295_49208296insTAT	ENST00000404720.2	+	2	96_97	c.24_25insTAT	c.(25-27)tat>TATtat	p.9_9Y>YY		NM_001098407.1|NM_012196.1	NP_001091877.1|NP_036328.1			G antigen 2D																		GAAGATCGACCTATCGGCCTAG	0.465													3	5	---	---	---	---						TAT	49208296	-	TAT	49208295	7	5	153	1	0	1	1	0	0	0	0	0	6229	668	24	0	366	0	GAGE2D	23	49208295	In_Frame_Ins	INS	-	TCGA-DU-A7TJ-01A-11D-A34J-08		49208295	106062265	50	22783											
GPC3	2719	broad.mit.edu	37	X	132888183	132888183	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A7TJ-01A-11D-A34J-08	TCGA-DU-A7TJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e423faad-225f-4505-b3ae-0b142263357d	06cf2071-92a5-4732-a699-a6d86bd996b0	g.chrX:132888183G>A	ENST00000370818.3	-	3	803	c.358C>T	c.(358-360)Cgc>Tgc	p.R120C	GPC3_ENST00000543339.1_Missense_Mutation_p.R66C|GPC3_ENST00000394299.2_Missense_Mutation_p.R120C	NM_001164618.1|NM_004484.3	NP_001158090.1|NP_004475.1	P51654	GPC3_HUMAN	glypican 3	120						extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding|peptidyl-dipeptidase inhibitor activity			breast(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|prostate(1)|skin(2)	36	Acute lymphoblastic leukemia(192;0.000127)					TTGGCATGGCGAACAACAATT	0.363			"T, D, Mis, N, F, S"			Wilms tumour			Simpson-Golabi-Behmel syndrome				76	4					0	0	1	0	0	A	132888183	G	A	132888183	3	1	153	1	0	0	0	0	1	0	0	0	6639	1058	37	1	1481	1	GPC3	23	132888183	Missense_Mutation	SNP	G	TCGA-DU-A7TJ-01A-11D-A34J-08	83679888	132888183	22382377	51	22784											
MIB2	142678	broad.mit.edu	37	1	1563188	1563188	+	Silent	SNP	C	C	T			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr1:1563188C>T	ENST00000357210.4	+	13	2049	c.1833C>T	c.(1831-1833)cgC>cgT	p.R611R	MIB2_ENST00000355826.5_Silent_p.R654R|MIB2_ENST00000505820.2_Silent_p.R668R|MIB2_ENST00000360522.4_Silent_p.R576R|MIB2_ENST00000504599.1_Silent_p.R567R|MIB2_ENST00000378712.1_Silent_p.R488R|MIB2_ENST00000518681.1_Silent_p.R603R|MIB2_ENST00000378710.3_Silent_p.R575R|MIB2_ENST00000520777.1_Silent_p.R664R|MIB2_ENST00000378708.1_Silent_p.R517R	NM_080875.2	NP_543151.2	Q96AX9	MIB2_HUMAN	mindbomb E3 ubiquitin protein ligase 2	611					Notch signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade	endosome	actin binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|lung(7)|prostate(4)|upper_aerodigestive_tract(1)	18	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		TGTGTGAGCGCGGCTGTGACG	0.692													8	12					0	0	0.307466	0	0	T	1563188	C	T	1563188	2	4	154	1	0	0	0	0	0	0	0	1	9616	755	27	1		1	MIB2	1	1563188	Silent	SNP	C	TCGA-E1-5302-01A-01D-1468-08		1563188	247687433	1	22785											
CDK11B	984	broad.mit.edu	37	1	1586881	1586881	+	Missense_Mutation	SNP	G	G	A	rs139684849	by1000genomes	TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr1:1586881G>A	ENST00000407249.3	-	2	168	c.169C>T	c.(169-171)Cgc>Tgc	p.R57C	CDK11B_ENST00000317673.7_Missense_Mutation_p.R57C|CDK11B_ENST00000341832.6_Missense_Mutation_p.R23C|CDK11B_ENST00000340677.5_Missense_Mutation_p.R57C			P21127	CD11B_HUMAN	cyclin-dependent kinase 11B	57			R -> C (in dbSNP:rs17424353).		apoptosis|cell proliferation|mitosis|regulation of cell growth|regulation of mRNA processing|regulation of transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity|protein binding			endometrium(2)|large_intestine(3)|lung(4)|skin(1)|stomach(2)	12						atctccatgcggtgatctctc	0.463													3	86					0	0	0.115264	0	0	A	1586881	G	A	1586881	3	1	154	1	0	0	0	0	1	0	0	0	3149	1131	39	1		1	CDK11B	1	1586881	Missense_Mutation	SNP	G	TCGA-E1-5302-01A-01D-1468-08	23693	1586881	247663740	2	22786											
HMGN2	3151	broad.mit.edu	37	1	26800580	26800580	+	Missense_Mutation	SNP	C	C	A			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr1:26800580C>A	ENST00000361427.5	+	4	189	c.95C>A	c.(94-96)cCt>cAt	p.P32H	HMGN2_ENST00000493418.1_3'UTR	NM_005517.3	NP_005508.1	P05204	HMGN2_HUMAN	high mobility group nucleosomal binding domain 2	32					chromatin organization|regulation of transcription, DNA-dependent	chromatin|cytoplasm|nucleus	DNA binding|protein binding			breast(1)|lung(2)	3		all_cancers(24;1.9e-24)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.38e-49)|OV - Ovarian serous cystadenocarcinoma(117;5.38e-28)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.026)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.153)|LUSC - Lung squamous cell carcinoma(448;0.227)		AAAAAGAAACCTGCTCCTCCA	0.443													3	69					0.150653	0.15668	0.150653	1	0	A	26800580	C	A	26800580	3	1	154	1	0	0	0	0	1	0	0	0	7276	681	24	4	109	4	HMGN2	1	26800580	Missense_Mutation	SNP	C	TCGA-E1-5302-01A-01D-1468-08	25213699	26800580	222450041	3	22787											
ODF2L	57489	broad.mit.edu	37	1	86820356	86820356	+	Missense_Mutation	SNP	C	C	A			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr1:86820356C>A	ENST00000359242.3	-	16	1905	c.1624G>T	c.(1624-1626)Gca>Tca	p.A542S	ODF2L_ENST00000294678.2_Missense_Mutation_p.A526S|ODF2L_ENST00000394731.1_Missense_Mutation_p.A382S|ODF2L_ENST00000317336.7_Missense_Mutation_p.A542S|ODF2L_ENST00000370567.1_Missense_Mutation_p.A513S|ODF2L_ENST00000370566.3_Missense_Mutation_p.A460S	NM_001007022.2	NP_001007023.2	Q9ULJ1	ODF2L_HUMAN	outer dense fiber of sperm tails 2-like	542						centrosome				endometrium(2)|kidney(2)|large_intestine(10)|lung(6)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	24				all cancers(265;0.0313)|Epithelial(280;0.0611)		TTATTTTCTGCGTCCATCTGT	0.313													3	190					0.115264	0.123159	0.115264	1	0	A	86820356	C	A	86820356	3	1	154	1	0	0	0	0	1	0	0	0	10876	768	27	5	431	5	ODF2L	1	86820356	Missense_Mutation	SNP	C	TCGA-E1-5302-01A-01D-1468-08	60019776	86820356	162430265	4	22788											
HCN3	57657	broad.mit.edu	37	1	155257756	155257756	+	Silent	SNP	G	G	A			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr1:155257756G>A	ENST00000368358.3	+	8	1835	c.1827G>A	c.(1825-1827)gcG>gcA	p.A609A	HCN3_ENST00000496230.1_3'UTR	NM_020897.2	NP_065948.1	Q9P1Z3	HCN3_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 3	609						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	p.A609A(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			TGGTACATGCGCCCCTTCAGG	0.627													8	95					0	0	0.361761	0	0	A	155257756	G	A	155257756	2	1	154	1	0	0	0	0	0	0	0	1	7039	1074	38	1		1	HCN3	1	155257756	Silent	SNP	G	TCGA-E1-5302-01A-01D-1468-08	68437400	155257756	93992865	5	22789											
OR1C1	26188	broad.mit.edu	37	1	247920937	247920937	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr1:247920937C>T	ENST00000408896.2	-	1	1045	c.772G>A	c.(772-774)Gtc>Atc	p.V258I		NM_012353.2	NP_036485.2	Q15619	OR1C1_HUMAN	olfactory receptor, family 1, subfamily C, member 1	258					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(32)|skin(2)|upper_aerodigestive_tract(1)	46	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	OV - Ovarian serous cystadenocarcinoma(106;0.0168)			CTGAAATAGACGGCGATGGCT	0.512													51	44					0	0	0.870114	0	0	T	247920937	C	T	247920937	3	4	154	1	0	0	0	0	1	0	0	0	11000	536	19	1	174	1	OR1C1	1	247920937	Missense_Mutation	SNP	C	TCGA-E1-5302-01A-01D-1468-08	92663181	247920937	1329684	6	22790											
CLIP4	79745	broad.mit.edu	37	2	29356592	29356592	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr2:29356592C>T	ENST00000320081.5	+	5	694	c.439C>T	c.(439-441)Cgc>Tgc	p.R147C	CLIP4_ENST00000401605.1_Missense_Mutation_p.R147C|CLIP4_ENST00000404424.1_Missense_Mutation_p.R147C|CLIP4_ENST00000401617.2_Missense_Mutation_p.R40C	NM_024692.4	NP_078968.3	Q8N3C7	CLIP4_HUMAN	CAP-GLY domain containing linker protein family, member 4	147								p.R147C(1)		endometrium(4)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(1)	26	Acute lymphoblastic leukemia(172;0.155)					TTTGCGGAGTCGCTGGACAAA	0.368													8	125					0	0	0.27861	0	0	T	29356592	C	T	29356592	3	4	154	1	0	0	0	0	1	0	0	0	3558	884	31	1	453	1	CLIP4	2	29356592	Missense_Mutation	SNP	C	TCGA-E1-5302-01A-01D-1468-08		29356592	213842781	7	22791											
LCLAT1	253558	broad.mit.edu	37	2	30863465	30863465	+	Missense_Mutation	SNP	A	A	G			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr2:30863465A>G	ENST00000309052.4	+	7	1434	c.1225A>G	c.(1225-1227)Aat>Gat	p.N409D	LCLAT1_ENST00000491680.2_3'UTR|LCLAT1_ENST00000379509.3_Missense_Mutation_p.N371D|LCLAT1_ENST00000540623.1_Missense_Mutation_p.N371D	NM_182551.3	NP_872357.2	Q6UWP7	LCLT1_HUMAN	lysocardiolipin acyltransferase 1	409					multicellular organismal development|phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)	19						GCCACATTTAAATTCAAAGAA	0.343													17	150					0	0	0.592651	0	0	G	30863465	A	G	30863465	3	3	154	1	0	0	0	0	1	0	0	0	8716	14	1	3	1247	3	LCLAT1	2	30863465	Missense_Mutation	SNP	A	TCGA-E1-5302-01A-01D-1468-08	1506873	30863465	212335908	8	22792											
CAPN13	92291	broad.mit.edu	37	2	30966407	30966407	+	Silent	SNP	C	C	T			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr2:30966407C>T	ENST00000295055.8	-	13	1463	c.1287G>A	c.(1285-1287)tcG>tcA	p.S429S	CAPN13_ENST00000534090.2_Silent_p.S429S	NM_144575.2	NP_653176.2	Q6MZZ7	CAN13_HUMAN	calpain 13	429					proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					TGTTTCTGAACGAGGAAAAAA	0.473													99	134					0	0	0.870114	0	0	T	30966407	C	T	30966407	2	4	154	1	0	0	0	0	0	0	0	1	2644	523	19	1		1	CAPN13	2	30966407	Silent	SNP	C	TCGA-E1-5302-01A-01D-1468-08	102942	30966407	212232966	9	22793											
PDE1A	5136	broad.mit.edu	37	2	183095781	183095781	+	Nonsense_Mutation	SNP	A	A	C			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr2:183095781A>C	ENST00000435564.1	-	5	743	c.543T>G	c.(541-543)taT>taG	p.Y181*	PDE1A_ENST00000410103.1_Nonsense_Mutation_p.Y181*|PDE1A_ENST00000456212.1_Nonsense_Mutation_p.Y181*|PDE1A_ENST00000536095.1_Nonsense_Mutation_p.Y77*|PDE1A_ENST00000409365.1_Nonsense_Mutation_p.Y165*|PDE1A_ENST00000346717.4_Nonsense_Mutation_p.Y147*|PDE1A_ENST00000351439.5_Nonsense_Mutation_p.Y165*|PDE1A_ENST00000331935.6_Nonsense_Mutation_p.Y181*|PDE1A_ENST00000358139.2_Nonsense_Mutation_p.Y181*|PDE1A_ENST00000482538.1_5'UTR	NM_001258312.1|NM_005019.4	NP_001245241.1|NP_005010.2	P54750	PDE1A_HUMAN	phosphodiesterase 1A, calmodulin-dependent	181					activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2)	35			OV - Ovarian serous cystadenocarcinoma(117;0.061)			TAAACAGTTCATAAATCATAA	0.323													38	251					0	0	0.804634	0	0	C	183095781	A	C	183095781	4	2	154	1	0	0	0	0	0	1	0	0	11680	224	8	4	1182	4	PDE1A	2	183095781	Nonsense_Mutation	SNP	A	TCGA-E1-5302-01A-01D-1468-08	152129374	183095781	60103592	10	22794											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								45	92					0	0	0.870114	0	0	T	209113112	C	T	209113112	3	4	154	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-E1-5302-01A-01D-1468-08	26017331	209113112	34086261	11	22795											
GRM7	2917	broad.mit.edu	37	3	7188209	7188209	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr3:7188209G>A	ENST00000486284.1	+	2	864	c.590G>A	c.(589-591)cGc>cAc	p.R197H	GRM7_ENST00000402647.2_Missense_Mutation_p.R197H|GRM7_ENST00000389336.4_Missense_Mutation_p.R197H|GRM7_ENST00000357716.4_Missense_Mutation_p.R197H|GRM7_ENST00000403881.1_Missense_Mutation_p.R197H	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	197					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	TTCTTCTCTCGCGTGGTGCCA	0.522													34	174					0	0	0.796494	0	0	A	7188209	G	A	7188209	3	1	154	1	0	0	0	0	1	0	0	0	6843	1087	38	1	596	1	GRM7	3	7188209	Missense_Mutation	SNP	G	TCGA-E1-5302-01A-01D-1468-08		7188209	190834221	12	22796											
SCN10A	6336	broad.mit.edu	37	3	38797286	38797286	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr3:38797286C>T	ENST00000449082.2	-	10	1453	c.1454G>A	c.(1453-1455)cGc>cAc	p.R485H		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	485					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	taccatcctgcgctGGTTGTA	0.493													6	222					0	0	0.217242	0	0	T	38797286	C	T	38797286	3	4	154	1	0	0	0	0	1	0	0	0	13966	768	27	1	4488	1	SCN10A	3	38797286	Missense_Mutation	SNP	C	TCGA-E1-5302-01A-01D-1468-08	31609077	38797286	159225144	13	22797											
KLHL18	23276	broad.mit.edu	37	3	47361235	47361235	+	Silent	SNP	C	C	T			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr3:47361235C>T	ENST00000232766.5	+	2	242	c.222C>T	c.(220-222)tgC>tgT	p.C74C	KLHL18_ENST00000455924.2_Intron	NM_025010.4	NP_079286.2	O94889	KLH18_HUMAN	kelch-like family member 18	74	BTB.									endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	21		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00645)|Kidney(197;0.00741)		TGATGGAGTGCAAGCAGGATG	0.493													16	279					0	0	0.500413	0	0	T	47361235	C	T	47361235	2	4	154	1	0	0	0	0	0	0	0	1	8416	718	25	2		2	KLHL18	3	47361235	Silent	SNP	C	TCGA-E1-5302-01A-01D-1468-08	8563949	47361235	150661195	14	22798											
DNAJC13	23317	broad.mit.edu	37	3	132222140	132222140	+	Missense_Mutation	SNP	C	C	A			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr3:132222140C>A	ENST00000260818.6	+	41	5047	c.4799C>A	c.(4798-4800)cCa>cAa	p.P1600Q		NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	1600							heat shock protein binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						CAAGCAACTCCAGAAAATCCA	0.448													4	117					0.150653	0.15668	0.150653	1	0	A	132222140	C	A	132222140	3	1	154	1	0	0	0	0	1	0	0	0	4659	594	21	5	4957	5	DNAJC13	3	132222140	Missense_Mutation	SNP	C	TCGA-E1-5302-01A-01D-1468-08	84860905	132222140	65800290	15	22799											
MAST4	375449	broad.mit.edu	37	5	66448610	66448610	+	Silent	SNP	G	G	A			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr5:66448610G>A	ENST00000404260.3	+	25	3758	c.3450G>A	c.(3448-3450)tcG>tcA	p.S1150S	MAST4_ENST00000403666.1_Silent_p.S958S|MAST4_ENST00000261569.7_Silent_p.S953S|MAST4_ENST00000405643.1_Silent_p.S968S|MAST4_ENST00000403625.2_Silent_p.S1147S			O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	1150	PDZ.					cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		TCCACAGTTCGGGGAAGAACT	0.542													7	154					0	0	0.27861	0	0	A	66448610	G	A	66448610	2	1	154	1	0	0	0	0	0	0	0	1	9377	1103	39	1		1	MAST4	5	66448610	Silent	SNP	G	TCGA-E1-5302-01A-01D-1468-08		66448610	114466650	16	22800											
IER3	8870	broad.mit.edu	37	6	30711944	30711944	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr6:30711944C>T	ENST00000376377.2	-	1	381	c.352G>A	c.(352-354)Gaa>Aaa	p.E118K	IER3_ENST00000259874.5_Silent_p.P80P			P46695	IEX1_HUMAN	immediate early response 3	0					anatomical structure morphogenesis|anti-apoptosis|apoptosis	integral to membrane	protein binding			NS(1)	1						TGGCTGGGTTCGGTTCCTCGA	0.617													5	167					0	0	0.248553	0	0	T	30711944	C	T	30711944	3	4	154	1	0	0	0	0	1	0	0	0	7550	871	31	1	234	1	IER3	6	30711944	Missense_Mutation	SNP	C	TCGA-E1-5302-01A-01D-1468-08		30711944	140403123	17	22801											
ZNF76	7629	broad.mit.edu	37	6	35255507	35255507	+	Nonsense_Mutation	SNP	C	C	A			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr6:35255507C>A	ENST00000373953.3	+	5	583	c.317C>A	c.(316-318)tCg>tAg	p.S106*	ZNF76_ENST00000440666.2_Nonsense_Mutation_p.S80*|ZNF76_ENST00000339411.5_Nonsense_Mutation_p.S106*	NM_003427.3	NP_003418.2	P36508	ZNF76_HUMAN	zinc finger protein 76	106					regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)	16						GCTGTGCCATCGGAGAGCACC	0.617													3	125					0.115264	0.123159	0.115264	1	0	A	35255507	C	A	35255507	4	1	154	1	0	0	0	0	0	1	0	0	18185	893	31	5	331	5	ZNF76	6	35255507	Nonsense_Mutation	SNP	C	TCGA-E1-5302-01A-01D-1468-08	4543563	35255507	135859560	18	22802											
GPR116	221395	broad.mit.edu	37	6	46826878	46826878	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr6:46826878C>T	ENST00000283296.7	-	17	3050	c.2762G>A	c.(2761-2763)aGc>aAc	p.S921N	GPR116_ENST00000545669.1_Missense_Mutation_p.S350N|GPR116_ENST00000265417.7_Missense_Mutation_p.S921N|GPR116_ENST00000456426.2_Missense_Mutation_p.S779N|GPR116_ENST00000362015.4_Missense_Mutation_p.S921N	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	921					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			CATCACTAAGCTCTCTGCAAA	0.448													42	192					0	0	0.870114	0	0	T	46826878	C	T	46826878	3	4	154	1	0	0	0	0	1	0	0	0	6673	797	28	2	1298	2	GPR116	6	46826878	Missense_Mutation	SNP	C	TCGA-E1-5302-01A-01D-1468-08	11571371	46826878	124288189	19	22803											
MCM9	254394	broad.mit.edu	37	6	119245149	119245149	+	Missense_Mutation	SNP	A	A	G			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr6:119245149A>G	ENST00000316316.6	-	3	734	c.448T>C	c.(448-450)Tgc>Cgc	p.C150R	MCM9_ENST00000316068.3_Missense_Mutation_p.C150R	NM_017696.2	NP_060166.2	Q9NXL9	MCM9_HUMAN	minichromosome maintenance complex component 9	150					DNA replication		ATP binding|DNA binding|nucleoside-triphosphatase activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		all_cancers(87;0.122)|all_epithelial(87;0.179)		GBM - Glioblastoma multiforme(226;0.0676)|OV - Ovarian serous cystadenocarcinoma(136;0.194)		ACATGCTTGCATTTGTTACAC	0.458													27	350					0	0	0.681144	0	0	G	119245149	A	G	119245149	3	3	154	1	0	0	0	0	1	0	0	0	9444	217	8	3	747	3	MCM9	6	119245149	Missense_Mutation	SNP	A	TCGA-E1-5302-01A-01D-1468-08	72418271	119245149	51869918	20	22804											
SCRN1	9805	broad.mit.edu	37	7	29963705	29963705	+	Silent	SNP	G	G	A			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr7:29963705G>A	ENST00000426154.1	-	8	1289	c.1113C>T	c.(1111-1113)acC>acT	p.T371T	SCRN1_ENST00000425819.2_Silent_p.T303T|SCRN1_ENST00000242059.5_Silent_p.T371T|SCRN1_ENST00000416113.2_Silent_p.T197T|SCRN1_ENST00000434476.2_Silent_p.T391T|SCRN1_ENST00000409497.1_Silent_p.T371T	NM_001145513.1	NP_001138985.1	Q12765	SCRN1_HUMAN	secernin 1	371					exocytosis|proteolysis	cytoplasm|nuclear membrane	dipeptidase activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|ovary(2)|prostate(2)|skin(2)	25						GCTCCAGCATGGTGCTCCTCA	0.557													17	150					0	0	0.520397	0	0	A	29963705	G	A	29963705	2	1	154	1	0	0	0	0	0	0	0	1	13992	1335	47	2		2	SCRN1	7	29963705	Silent	SNP	G	TCGA-E1-5302-01A-01D-1468-08		29963705	129174958	21	22805											
RNF133	168433	broad.mit.edu	37	7	122338205	122338205	+	Silent	SNP	G	G	A			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr7:122338205G>A	ENST00000340112.2	-	1	1005	c.768C>T	c.(766-768)tgC>tgT	p.C256C	CADPS2_ENST00000449022.2_Intron|CADPS2_ENST00000313070.7_Intron|CADPS2_ENST00000412584.2_Intron|CADPS2_ENST00000334010.7_Intron	NM_139175.1	NP_631914.1	Q8WVZ7	RN133_HUMAN	ring finger protein 133	256						endoplasmic reticulum membrane|integral to membrane	ligase activity|zinc ion binding			NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	21						AGCAAATTACGCAGCTATCCC	0.398													122	355					0	0	0.870114	0	0	A	122338205	G	A	122338205	2	1	154	1	0	0	0	0	0	0	0	1	13491	1079	38	1		1	RNF133	7	122338205	Silent	SNP	G	TCGA-E1-5302-01A-01D-1468-08	92374500	122338205	36800458	22	22806											
MSRA	4482	broad.mit.edu	37	8	10285770	10285770	+	Missense_Mutation	SNP	A	A	G			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr8:10285770A>G	ENST00000528246.1	+	7	1081	c.458A>G	c.(457-459)tAc>tGc	p.Y153C	MSRA_ENST00000317173.4_Missense_Mutation_p.Y219C|MSRA_ENST00000441698.2_Missense_Mutation_p.Y179C|MSRA_ENST00000382490.5_Missense_Mutation_p.Y176C	NM_001199729.1	NP_001186658.1	Q9UJ68	MSRA_HUMAN	methionine sulfoxide reductase A	219					methionine metabolic process|protein modification process|response to oxidative stress	mitochondrion|nucleus	peptide-methionine-(S)-S-oxide reductase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|lung(4)	8		Myeloproliferative disorder(644;0.178)			L-Methionine(DB00134)	CCCAATGGCTACTGCGGCCTT	0.542													3	137					0	0	0.150653	0	0	G	10285770	A	G	10285770	3	3	154	1	0	0	0	0	1	0	0	0	9935	391	14	3	695	3	MSRA	8	10285770	Missense_Mutation	SNP	A	TCGA-E1-5302-01A-01D-1468-08		10285770	136078252	23	22807											
FAM154A	158297	broad.mit.edu	37	9	18928507	18928507	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr9:18928507C>T	ENST00000380534.4	-	4	1247	c.968G>A	c.(967-969)cGa>cAa	p.R323Q	FAM154A_ENST00000542071.1_Missense_Mutation_p.R131Q|FAM154A_ENST00000380530.1_3'UTR	NM_153707.2	NP_714918.2	Q8IYX7	F154A_HUMAN	family with sequence similarity 154, member A	323										breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|skin(1)	26				GBM - Glioblastoma multiforme(50;6.53e-16)		AAGTGCAGGTCGGCAGGACTG	0.562													9	147					0	0	0.335167	0	0	T	18928507	C	T	18928507	3	4	154	1	0	0	0	0	1	0	0	0	5493	884	31	1	460	1	FAM154A	9	18928507	Missense_Mutation	SNP	C	TCGA-E1-5302-01A-01D-1468-08		18928507	122284924	24	22808											
FAM102A	399665	broad.mit.edu	37	9	130707146	130707146	+	Missense_Mutation	SNP	T	T	C	rs11558950		TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr9:130707146T>C	ENST00000373095.1	-	9	1324	c.949A>G	c.(949-951)Acc>Gcc	p.T317A	FAM102A_ENST00000300434.3_5'UTR|FAM102A_ENST00000373084.4_Missense_Mutation_p.T175A	NM_001035254.2	NP_001030331.1	Q5T9C2	F102A_HUMAN	family with sequence similarity 102, member A	317										breast(1)|cervix(1)|large_intestine(3)|lung(1)|ovary(4)	10						TCCACCCAGGTCGGGTGGCTC	0.607													3	91					0	0	0.115264	0	0	C	130707146	T	C	130707146	3	2	154	1	0	0	0	0	1	0	0	0	5413	1667	58	3	217	3	FAM102A	9	130707146	Missense_Mutation	SNP	T	TCGA-E1-5302-01A-01D-1468-08	111778639	130707146	10506285	25	22809											
ABCA2	20	broad.mit.edu	37	9	139912486	139912486	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr9:139912486C>T	ENST00000265662.5	-	15	2182	c.2035G>A	c.(2035-2037)Gat>Aat	p.D679N	ABCA2_ENST00000371605.3_Missense_Mutation_p.D678N|ABCA2_ENST00000341511.6_Missense_Mutation_p.D679N			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	678					cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		TCCACCACATCGTGCCCCACA	0.662													10	36					0	0	0.411799	0	0	T	139912486	C	T	139912486	3	4	154	1	0	0	0	0	1	0	0	0	32	884	31	1	5415	1	ABCA2	9	139912486	Missense_Mutation	SNP	C	TCGA-E1-5302-01A-01D-1468-08	9205340	139912486	1300945	26	22810											
NDOR1	27158	broad.mit.edu	37	9	140110623	140110623	+	Silent	SNP	A	A	G			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr9:140110623A>G	ENST00000371521.4	+	13	1742	c.1659A>G	c.(1657-1659)gcA>gcG	p.A553A	NDOR1_ENST00000458322.2_Silent_p.A537A|NDOR1_ENST00000344894.5_Silent_p.A544A|NDOR1_ENST00000427047.2_Intron	NM_001144026.1	NP_001137498.1	Q9UHB4	NDOR1_HUMAN	NADPH dependent diflavin oxidoreductase 1	544					cell death	cytosol|intermediate filament cytoskeleton|nucleus|perinuclear region of cytoplasm	flavin adenine dinucleotide binding|FMN binding|iron ion binding|NADP binding|oxidoreductase activity|protein binding			breast(1)|endometrium(5)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		GCCAGGGTGCATACTTCTACC	0.642													17	135					0	0	0.557998	0	0	G	140110623	A	G	140110623	2	3	154	1	0	0	0	0	0	0	0	1	10296	204	8	3		3	NDOR1	9	140110623	Silent	SNP	A	TCGA-E1-5302-01A-01D-1468-08	198137	140110623	1102808	27	22811											
DUSP13	51207	broad.mit.edu	37	10	76855494	76855494	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr10:76855494G>A	ENST00000491677.2	-	7	1162	c.620C>T	c.(619-621)gCc>gTc	p.A207V	DUSP13_ENST00000478873.2_Missense_Mutation_p.A214V|DUSP13_ENST00000372700.3_Missense_Mutation_p.A128V|DUSP13_ENST00000372702.3_3'UTR|DUSP13_ENST00000607131.1_Missense_Mutation_p.A171V|DUSP13_ENST00000472493.2_Missense_Mutation_p.A78V|DUSP13_ENST00000464872.1_Missense_Mutation_p.A78V|DUSP13_ENST00000605915.1_Missense_Mutation_p.A100V	NM_001007271.1	NP_001007272.1	Q6B8I1	MDSP_HUMAN	dual specificity phosphatase 13	70						cytoplasm	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	8	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					GCCTGCAGCGGCATTCACAAC	0.577													5	307					0	0	0.184627	0	0	A	76855494	G	A	76855494	3	1	154	1	0	0	0	0	1	0	0	0	4839	1203	42	2	371	2	DUSP13	10	76855494	Missense_Mutation	SNP	G	TCGA-E1-5302-01A-01D-1468-08		76855494	58679253	28	22812											
LDB1	8861	broad.mit.edu	37	10	103871263	103871263	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr10:103871263G>A	ENST00000425280.1	-	2	398	c.56C>T	c.(55-57)tCg>tTg	p.S19L	LDB1_ENST00000490751.1_5'UTR|LDB1_ENST00000361198.5_5'UTR	NM_001113407.1	NP_001106878.1	Q86U70	LDB1_HUMAN	LIM domain binding 1	19					histone H3-K4 acetylation|negative regulation of erythrocyte differentiation|negative regulation of transcription, DNA-dependent|positive regulation of hemoglobin biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription elongation, DNA-dependent|transcription, DNA-dependent|transcription-dependent tethering of RNA polymerase II gene DNA at nuclear periphery	nuclear chromatin|protein complex	LIM domain binding|protein homodimerization activity|transcription corepressor activity			breast(1)|central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)	21		Colorectal(252;0.122)		Epithelial(162;1.11e-07)|all cancers(201;1.82e-06)		CTCCTTCGGCGAGTACAGCTT	0.547													42	62					0	0	0.840704	0	0	A	103871263	G	A	103871263	3	1	154	1	0	0	0	0	1	0	0	0	8734	1059	37	1	1219	1	LDB1	10	103871263	Missense_Mutation	SNP	G	TCGA-E1-5302-01A-01D-1468-08	27015769	103871263	31663484	29	22813											
TMEM109	79073	broad.mit.edu	37	11	60687346	60687346	+	Missense_Mutation	SNP	G	G	C			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr11:60687346G>C	ENST00000227525.3	+	2	584	c.181G>C	c.(181-183)Gtg>Ctg	p.V61L	RP11-881M11.4_ENST00000543907.1_RNA|TMEM109_ENST00000536171.1_Missense_Mutation_p.V61L	NM_024092.2	NP_076997.1	Q9BVC6	TM109_HUMAN	transmembrane protein 109	61						integral to membrane|nuclear outer membrane|sarcoplasmic reticulum membrane				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1)	8						AGGTCGATCTGTGCGAGGGAC	0.542													13	247					0	0	0.520397	0	0	C	60687346	G	C	60687346	3	2	154	1	0	0	0	0	1	0	0	0	16085	1377	48	5	183	5	TMEM109	11	60687346	Missense_Mutation	SNP	G	TCGA-E1-5302-01A-01D-1468-08		60687346	74319170	30	22814											
MTA2	9219	broad.mit.edu	37	11	62361480	62361480	+	Missense_Mutation	SNP	A	A	C			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr11:62361480A>C	ENST00000278823.2	-	18	2263	c.1874T>G	c.(1873-1875)aTg>aGg	p.M625R	MTA2_ENST00000527204.1_Missense_Mutation_p.M452R|MTA2_ENST00000524902.1_Missense_Mutation_p.M452R	NM_004739.3	NP_004730.2	O94776	MTA2_HUMAN	metastasis associated 1 family, member 2	625					chromatin assembly or disassembly	NuRD complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	26						AGCTCGCCGCATTTCCAGATG	0.592											OREG0021027	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	237					0	0	0.479597	0	0	C	62361480	A	C	62361480	3	2	154	1	0	0	0	0	1	0	0	0	9957	217	8	4	136	4	MTA2	11	62361480	Missense_Mutation	SNP	A	TCGA-E1-5302-01A-01D-1468-08	1674134	62361480	72645036	31	22815											
GANAB	23193	broad.mit.edu	37	11	62400156	62400156	+	Missense_Mutation	SNP	T	T	G			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr11:62400156T>G	ENST00000346178.4	-	10	958	c.943A>C	c.(943-945)Atg>Ctg	p.M315L	GANAB_ENST00000540933.1_Missense_Mutation_p.M196L|GANAB_ENST00000356638.3_Missense_Mutation_p.M293L|GANAB_ENST00000534779.1_Missense_Mutation_p.M201L	NM_001278192.1|NM_198335.2	NP_001265121.1|NP_938149.2	Q14697	GANAB_HUMAN	glucosidase, alpha; neutral AB	293					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|Golgi apparatus|melanosome	carbohydrate binding|glucan 1,3-alpha-glucosidase activity|protein binding			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3)	35						TACAAGGCCATTGGGTTGTAC	0.542													24	554					0	0	0.693898	0	0	G	62400156	T	G	62400156	3	3	154	1	0	0	0	0	1	0	0	0	6273	1493	52	4	2021	4	GANAB	11	62400156	Missense_Mutation	SNP	T	TCGA-E1-5302-01A-01D-1468-08	38676	62400156	72606360	32	22816											
FRMD8	83786	broad.mit.edu	37	11	65167269	65167269	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr11:65167269G>A	ENST00000317568.5	+	8	1029	c.866G>A	c.(865-867)cGc>cAc	p.R289H	FRMD8_ENST00000416776.2_Missense_Mutation_p.R255H|FRMD8_ENST00000355991.5_Missense_Mutation_p.R233H	NM_031904.3	NP_114110.1	Q9BZ67	FRMD8_HUMAN	FERM domain containing 8	289	FERM.					cytoskeleton	binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|urinary_tract(1)	17						CGGGGTGGGCGCAAGCCAGTT	0.632													4	131					0	0	0.150653	0	0	A	65167269	G	A	65167269	3	1	154	1	0	0	0	0	1	0	0	0	6091	1087	38	1	892	1	FRMD8	11	65167269	Missense_Mutation	SNP	G	TCGA-E1-5302-01A-01D-1468-08	2767113	65167269	69839247	33	22817											
CCDC87	55231	broad.mit.edu	37	11	66359044	66359044	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr11:66359044C>T	ENST00000333861.3	-	1	1510	c.1443G>A	c.(1441-1443)atG>atA	p.M481I		NM_018219.2	NP_060689.2	Q9NVE4	CCD87_HUMAN	coiled-coil domain containing 87	481										central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						TATCAATATCCATTTTTTCAA	0.458													14	311					0	0	0.500413	0	0	T	66359044	C	T	66359044	3	4	154	1	0	0	0	0	1	0	0	0	2882	594	21	2	1110	2	CCDC87	11	66359044	Missense_Mutation	SNP	C	TCGA-E1-5302-01A-01D-1468-08	1191775	66359044	68647472	34	22818											
FOLH1B	219595	broad.mit.edu	37	11	89409583	89409584	+	RNA	INS	-	-	TTT	rs112834075		TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr11:89409583_89409584insTTT	ENST00000532352.1	+	0	1261							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B						proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						tcttttcttacttttttttttt	0.347													3	3	---	---	---	---						TTT	89409584	-	TTT	89409583	6	5	154	0	1	1	1	0	0	0	0	0	6013	580	20	0		0	FOLH1B	11	89409583	RNA	INS	-	TCGA-E1-5302-01A-01D-1468-08	23050539	89409583	45596933	35	22819											
ZW10	9183	broad.mit.edu	37	11	113628513	113628513	+	Missense_Mutation	SNP	T	T	C			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr11:113628513T>C	ENST00000200135.3	-	7	940	c.796A>G	c.(796-798)Ata>Gta	p.I266V		NM_004724.3	NP_004715.1	O43264	ZW10_HUMAN	zw10 kinetochore protein	266	Interaction with RINT1.				cell division|ER to Golgi vesicle-mediated transport|establishment of mitotic spindle orientation|meiosis|mitotic cell cycle checkpoint|mitotic metaphase plate congression|mitotic prometaphase|protein complex assembly|protein localization to kinetochore|protein transport|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|endoplasmic reticulum membrane|kinetochore microtubule|nucleus|spindle pole	centromeric DNA binding|protein binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	18		all_cancers(61;3.84e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000237)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.94e-06)|Epithelial(105;0.000103)|all cancers(92;0.000786)		TGGCTTTCTATCACAGCATGA	0.378													16	147					0	0	0.479597	0	0	C	113628513	T	C	113628513	3	2	154	1	0	0	0	0	1	0	0	0	18287	1435	50	3	1583	3	ZW10	11	113628513	Missense_Mutation	SNP	T	TCGA-E1-5302-01A-01D-1468-08	24218930	113628513	21378003	36	22820											
ERBB3	2065	broad.mit.edu	37	12	56495733	56495733	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr12:56495733C>T	ENST00000267101.3	+	28	4363	c.3923C>T	c.(3922-3924)gCc>gTc	p.A1308V	ERBB3_ENST00000553131.1_Missense_Mutation_p.A549V|ERBB3_ENST00000450146.2_Missense_Mutation_p.A665V|ERBB3_ENST00000549832.1_Missense_Mutation_p.A428V|RP11-603J24.9_ENST00000548861.1_Intron|ERBB3_ENST00000415288.2_Missense_Mutation_p.A1249V	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	1308					cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			GTCCATTATGCCCGCCTAAAA	0.527													5	341					0	0	0.217242	0	0	T	56495733	C	T	56495733	3	4	154	1	0	0	0	0	1	0	0	0	5236	739	26	2	4164	2	ERBB3	12	56495733	Missense_Mutation	SNP	C	TCGA-E1-5302-01A-01D-1468-08		56495733	77356162	37	22821											
LRP1	4035	broad.mit.edu	37	12	57577624	57577624	+	Missense_Mutation	SNP	C	C	A			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr12:57577624C>A	ENST00000243077.3	+	36	6327	c.5861C>A	c.(5860-5862)aCg>aAg	p.T1954K		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	1954					aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CGGGACCAGACGTGGCGTGAA	0.612													3	119					0.004672	0.00528139	0.115264	1	0	A	57577624	C	A	57577624	3	1	154	1	0	0	0	0	1	0	0	0	8996	536	19	5	6003	5	LRP1	12	57577624	Missense_Mutation	SNP	C	TCGA-E1-5302-01A-01D-1468-08	1081891	57577624	76274271	38	22822											
STAB2	55576	broad.mit.edu	37	12	104049284	104049284	+	Silent	SNP	C	C	T			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr12:104049284C>T	ENST00000388887.2	+	15	1863	c.1659C>T	c.(1657-1659)taC>taT	p.Y553Y	RP11-341G23.2_ENST00000551905.1_RNA	NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	553	FAS1 2.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						GTGGACCATACACCATTTTTG	0.423													60	53					0	0	0.870114	0	0	T	104049284	C	T	104049284	2	4	154	1	0	0	0	0	0	0	0	1	15294	489	17	2		2	STAB2	12	104049284	Silent	SNP	C	TCGA-E1-5302-01A-01D-1468-08	46471660	104049284	29802611	39	22823											
STAB2	55576	broad.mit.edu	37	12	104139000	104139000	+	Silent	SNP	C	C	A			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr12:104139000C>A	ENST00000388887.2	+	57	6285	c.6081C>A	c.(6079-6081)tcC>tcA	p.S2027S		NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	2027					angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						TCACGGGCTCCGGGCAGTGCC	0.587													3	64					0.115264	0.123159	0.115264	1	0	A	104139000	C	A	104139000	2	1	154	1	0	0	0	0	0	0	0	1	15294	639	23	5		5	STAB2	12	104139000	Silent	SNP	C	TCGA-E1-5302-01A-01D-1468-08	89716	104139000	29712895	40	22824											
TDG	6996	broad.mit.edu	37	12	104374683	104374683	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr12:104374683C>T	ENST00000392872.3	+	4	655	c.421C>T	c.(421-423)Ccg>Tcg	p.P141S	TDG_ENST00000544861.1_5'UTR|TDG_ENST00000542036.1_5'UTR|TDG_ENST00000266775.9_Missense_Mutation_p.P137S	NM_003211.4	NP_003202.3	Q13569	TDG_HUMAN	thymine-DNA glycosylase	141					depyrimidination|mismatch repair	nucleoplasm	damaged DNA binding|mismatched DNA binding|protein binding|pyrimidine-specific mismatch base pair DNA N-glycosylase activity			large_intestine(2)|lung(14)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(302;0.00114)		TGGCATAAACCCGGGACTAAT	0.363								Base excision repair (BER), DNA glycosylases					23	208					0	0	0.681144	0	0	T	104374683	C	T	104374683	3	4	154	1	0	0	0	0	1	0	0	0	15784	623	22	2	435	2	TDG	12	104374683	Missense_Mutation	SNP	C	TCGA-E1-5302-01A-01D-1468-08	235683	104374683	29477212	41	22825											
GABRA5	2558	broad.mit.edu	37	15	27128668	27128668	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr15:27128668G>A	ENST00000335625.5	+	6	1349	c.461G>A	c.(460-462)cGg>cAg	p.R154Q	GABRA5_ENST00000557449.1_Intron|GABRA5_ENST00000400081.3_Missense_Mutation_p.R154Q|GABRB3_ENST00000541819.2_Intron|GABRA5_ENST00000355395.5_Missense_Mutation_p.R154Q	NM_000810.3	NP_000801.1	P31644	GBRA5_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 5	154					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(1)|upper_aerodigestive_tract(1)	49		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	AAGCTGCTGCGGCTGGAGGAC	0.677													8	43					0	0	0.27861	0	0	A	27128668	G	A	27128668	3	1	154	1	0	0	0	0	1	0	0	0	6199	1116	39	1	475	1	GABRA5	15	27128668	Missense_Mutation	SNP	G	TCGA-E1-5302-01A-01D-1468-08		27128668	75402724	42	22826											
ACAN	176	broad.mit.edu	37	15	89401845	89401845	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr15:89401845G>A	ENST00000439576.2	+	12	6403	c.6029G>A	c.(6028-6030)aGc>aAc	p.S2010N	ACAN_ENST00000352105.7_Missense_Mutation_p.S2010N|ACAN_ENST00000559004.1_Missense_Mutation_p.S2010N|ACAN_ENST00000561243.1_Missense_Mutation_p.S2010N	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	2010					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			GATTTTGCCAGCACCACCAAT	0.522													3	102					0	0	0.150653	0	0	A	89401845	G	A	89401845	3	1	154	1	0	0	0	0	1	0	0	0	117	971	34	2	6071	2	ACAN	15	89401845	Missense_Mutation	SNP	G	TCGA-E1-5302-01A-01D-1468-08	62273177	89401845	13129547	43	22827											
PKD1	5310	broad.mit.edu	37	16	2147949	2147949	+	Nonsense_Mutation	SNP	G	G	A			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr16:2147949G>A	ENST00000262304.4	-	31	10295	c.10087C>T	c.(10087-10089)Cag>Tag	p.Q3363*	PKD1_ENST00000423118.1_Nonsense_Mutation_p.Q3363*	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	3363					calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						TCCAGCACCTGCTGCCCGGCA	0.662													3	31					0	0	0.115264	0	0	A	2147949	G	A	2147949	4	1	154	1	0	0	0	0	0	1	0	0	12011	1328	46	2	2888	2	PKD1	16	2147949	Nonsense_Mutation	SNP	G	TCGA-E1-5302-01A-01D-1468-08		2147949	88206804	44	22828											
HS3ST4	9951	broad.mit.edu	37	16	26147367	26147367	+	Missense_Mutation	SNP	A	A	T			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr16:26147367A>T	ENST00000331351.5	+	2	1561	c.1169A>T	c.(1168-1170)aAa>aTa	p.K390I	HS3ST4_ENST00000475436.1_3'UTR	NM_006040.2	NP_006031.2	Q9Y661	HS3S4_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 4	390					heparan sulfate proteoglycan metabolic process	extracellular region|Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity			breast(2)|endometrium(3)|large_intestine(1)|lung(9)	15				GBM - Glioblastoma multiforme(48;0.0988)		TATTTCAACAAAACCAAGGGG	0.517													21	85					0	0	0.608945	0	0	T	26147367	A	T	26147367	3	4	154	1	0	0	0	0	1	0	0	0	7408	14	1	5	1175	5	HS3ST4	16	26147367	Missense_Mutation	SNP	A	TCGA-E1-5302-01A-01D-1468-08	23999418	26147367	64207386	45	22829											
TP53	7157	broad.mit.edu	37	17	7577101	7577101	+	Frame_Shift_Del	DEL	C	C	-			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr17:7577101delC	ENST00000420246.2	-	8	969	c.837delG	c.(835-837)gggfs	p.G279fs	TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Frame_Shift_Del_p.G279fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.G279fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.G279fs|TP53_ENST00000269305.4_Frame_Shift_Del_p.G279fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	279	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		G -> E (in sporadic cancers; somatic mutation).|G -> R (in sporadic cancers; somatic mutation).|G -> V (in sporadic cancers; somatic mutation).|G -> W (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.0?(8)|p.G279G(3)|p.?(2)|p.G279fs*65(2)|p.A276_R283delACPGRDRR(1)|p.G279V(1)|p.C275fs*20(1)|p.A276fs*64(1)|p.L265_K305del41(1)|p.G279_R280delGR(1)|p.F270_D281del12(1)|p.G279fs*59(1)|p.G279E(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(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)		GCCGGTCTCTCCCAGGACAGG	0.547		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)			90	20	---	---	---	---						-	7577101	C	-	7577101	7	5	154	1	0	1	0	1	0	0	0	0	16442	842	30	0	449	0	TP53	17	7577101	Frame_Shift_Del	DEL	C	TCGA-E1-5302-01A-01D-1468-08		7577101	73618109	46	22830											
SCPEP1	59342	broad.mit.edu	37	17	55072929	55072929	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr17:55072929C>T	ENST00000262288.3	+	8	774	c.719C>T	c.(718-720)gCc>gTc	p.A240V		NM_021626.2	NP_067639.1	Q9HB40	RISC_HUMAN	serine carboxypeptidase 1	240					proteolysis	extracellular region	serine-type carboxypeptidase activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|skin(2)	14	Breast(9;2.86e-08)					GTACTGAATGCCGTAAATAAG	0.483													4	193					0	0	0.150653	0	0	T	55072929	C	T	55072929	3	4	154	1	0	0	0	0	1	0	0	0	13989	739	26	2	749	2	SCPEP1	17	55072929	Missense_Mutation	SNP	C	TCGA-E1-5302-01A-01D-1468-08	47495828	55072929	26122281	47	22831											
GRIN2C	2905	broad.mit.edu	37	17	72851092	72851092	+	Missense_Mutation	SNP	C	C	A	rs142837005	byFrequency	TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr17:72851092C>A	ENST00000293190.5	-	2	286	c.140G>T	c.(139-141)cGt>cTt	p.R47L	GRIN2C_ENST00000347612.4_Missense_Mutation_p.R47L|GRIN2C_ENST00000578159.1_Intron	NM_000835.3	NP_000826.2	Q14957	NMDE3_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2C	47					glutamate signaling pathway	cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|N-methyl-D-aspartate selective glutamate receptor activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	33	all_lung(278;0.172)|Lung NSC(278;0.207)				Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)	GAGGCGGGCACGGAACTGGGC	0.687													5	66					1.23904e-05	1.42125e-05	0.184627	1	0	A	72851092	C	A	72851092	3	1	154	1	0	0	0	0	1	0	0	0	6822	536	19	5	3609	5	GRIN2C	17	72851092	Missense_Mutation	SNP	C	TCGA-E1-5302-01A-01D-1468-08	17778163	72851092	8344118	48	22832											
CDH19	28513	broad.mit.edu	37	18	64172539	64172539	+	Splice_Site	SNP	C	C	T			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr18:64172539C>T	ENST00000262150.2	-	12	2121	c.1829G>A	c.(1828-1830)gGg>gAg	p.G610E	CDH19_ENST00000540086.1_Splice_Site_p.G487S	NM_021153.3	NP_066976.1	Q9H159	CAD19_HUMAN	cadherin 19, type 2	610					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61		Esophageal squamous(42;0.0132)				AAAAATAAACCCTGATGAAGA	0.303													10	165					0	0	0.335167	0	0	T	64172539	C	T	64172539	5	4	154	1	0	0	0	0	0	0	1	0	3126	637	22	2	493	2	CDH19	18	64172539	Splice_Site	SNP	C	TCGA-E1-5302-01A-01D-1468-08		64172539	13904709	49	22833											
DOHH	83475	broad.mit.edu	37	19	3492382	3492382	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr19:3492382C>T	ENST00000427575.1	-	4	918	c.467G>A	c.(466-468)cGt>cAt	p.R156H	DOHH_ENST00000250937.3_Missense_Mutation_p.R156H	NM_001145165.1	NP_001138637.1	Q9BU89	DOHH_HUMAN	deoxyhypusine hydroxylase/monooxygenase	156					peptidyl-lysine modification to hypusine|post-translational protein modification	cytosol	deoxyhypusine monooxygenase activity|metal ion binding|protein binding			central_nervous_system(1)|large_intestine(1)|lung(1)	3				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)		CCCCACGTCACGCTCCTCAGC	0.746													3	3					0	0	0.150653	0	0	T	3492382	C	T	3492382	3	4	154	1	0	0	0	0	1	0	0	0	4722	536	19	1	449	1	DOHH	19	3492382	Missense_Mutation	SNP	C	TCGA-E1-5302-01A-01D-1468-08		3492382	55636601	50	22834											
C3	718	broad.mit.edu	37	19	6697496	6697496	+	Silent	SNP	G	G	A	rs140780068		TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr19:6697496G>A	ENST00000245907.6	-	21	2747	c.2655C>T	c.(2653-2655)acC>acT	p.T885T		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	885					complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		GGATGGTTACGGTCTGCTGGT	0.587													9	117					0	0	0.307466	0	0	A	6697496	G	A	6697496	2	1	154	1	0	0	0	0	0	0	0	1	2218	1103	39	1		1	C3	19	6697496	Silent	SNP	G	TCGA-E1-5302-01A-01D-1468-08	3205114	6697496	52431487	51	22835											
NCAN	1463	broad.mit.edu	37	19	19337662	19337662	+	Silent	SNP	G	G	A			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr19:19337662G>A	ENST00000252575.6	+	7	1539	c.1440G>A	c.(1438-1440)agG>agA	p.R480R		NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan						axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)			CTAGGAGAAGGGGGCGCTTCA	0.667													3	103					0	0	0.115264	0	0	A	19337662	G	A	19337662	2	1	154	1	0	0	0	0	0	0	0	1	10251	1223	43	2		2	NCAN	19	19337662	Silent	SNP	G	TCGA-E1-5302-01A-01D-1468-08	12640166	19337662	39791321	52	22836											
PLD3	23646	broad.mit.edu	37	19	40883897	40883897	+	Silent	SNP	C	C	G			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr19:40883897C>G	ENST00000409587.1	+	13	1687	c.1290C>G	c.(1288-1290)acC>acG	p.T430T	PLD3_ENST00000409735.4_Silent_p.T430T|PLD3_ENST00000356508.5_Silent_p.T430T|PLD3_ENST00000409419.1_Silent_p.T430T|PLD3_ENST00000409281.1_Silent_p.T430T			Q8IV08	PLD3_HUMAN	phospholipase D family, member 3	430	PLD phosphodiesterase 2.				lipid catabolic process	endoplasmic reticulum membrane|integral to membrane	NAPE-specific phospholipase D activity|phospholipase D activity|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	20			Lung(22;0.000636)|LUSC - Lung squamous cell carcinoma(20;0.00248)			CTCTAGGAACCTCCAACTGGT	0.647													23	139					0	0	0.639603	0	0	G	40883897	C	G	40883897	2	3	154	1	0	0	0	0	0	0	0	1	12095	668	24	4		4	PLD3	19	40883897	Silent	SNP	C	TCGA-E1-5302-01A-01D-1468-08	21546235	40883897	18245086	53	22837											
KRTAP10-11	386678	broad.mit.edu	37	21	46066417	46066417	+	Silent	SNP	C	C	T			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr21:46066417C>T	ENST00000334670.8	+	1	87	c.42C>T	c.(40-42)tcC>tcT	p.S14S	TSPEAR_ENST00000323084.4_Intron	NM_198692.2	NP_941965.2	P60411	KR109_HUMAN	keratin associated protein 10-11	14						keratin filament				NS(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)	12						GCGCTTACTCCGACTCCTGGC	0.672													5	129					0	0	0.27861	0	0	T	46066417	C	T	46066417	2	4	154	1	0	0	0	0	0	0	0	1	8550	639	23	1		1	KRTAP10-11	21	46066417	Silent	SNP	C	TCGA-E1-5302-01A-01D-1468-08		46066417	2063478	54	22838											
MICALL1	85377	broad.mit.edu	37	22	38323471	38323471	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr22:38323471C>T	ENST00000215957.6	+	9	1645	c.1519C>T	c.(1519-1521)Cca>Tca	p.P507S	MICALL1_ENST00000402631.1_3'UTR	NM_033386.3	NP_203744.1	Q8N3F8	MILK1_HUMAN	MICAL-like 1	507	Pro-rich.					cytoplasm|cytoskeleton	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	24	Melanoma(58;0.045)					CACACCATCGCCAGCGCTCAG	0.677													44	44					0	0	0.847076	0	0	T	38323471	C	T	38323471	3	4	154	1	0	0	0	0	1	0	0	0	9621	739	26	2	1553	2	MICALL1	22	38323471	Missense_Mutation	SNP	C	TCGA-E1-5302-01A-01D-1468-08		38323471	12981095	55	22839											
CELSR1	9620	broad.mit.edu	37	22	46929761	46929761	+	Missense_Mutation	SNP	C	C	T	rs145654024		TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr22:46929761C>T	ENST00000262738.3	-	1	3306	c.3307G>A	c.(3307-3309)Gac>Aac	p.D1103N	CELSR1_ENST00000395964.1_Missense_Mutation_p.D1103N|CELSR1_ENST00000497509.1_5'UTR	NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	1103					central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		ATCTGGAAGTCGGGCAGCACA	0.607													32	324					0	0	0.796494	0	0	T	46929761	C	T	46929761	3	4	154	1	0	0	0	0	1	0	0	0	3243	884	31	1	5877	1	CELSR1	22	46929761	Missense_Mutation	SNP	C	TCGA-E1-5302-01A-01D-1468-08	8606290	46929761	4374805	56	22840											
ATRX	546	broad.mit.edu	37	X	76907649	76907650	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chrX:76907649_76907650delTC	ENST00000373344.5	-	15	4725_4726	c.4511_4512delGA	c.(4510-4512)cgafs	p.R1504fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.R1466fs	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1504					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)	CAATACGTTTTCGTCTCTCTTC	0.386			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						180	59	---	---	---	---						-	76907650	TC	-	76907649	7	5	154	1	0	1	0	1	0	0	0	0	1206	1770	62	0	3050	0	ATRX	23	76907649	Frame_Shift_Del	DEL	TC	TCGA-E1-5302-01A-01D-1468-08		76907649	78362911	57	22841											
PLA2G4A	5321	broad.mit.edu	37	1	186948459	186948459	+	Missense_Mutation	SNP	A	A	G			TCGA-E1-5303-01A-01D-1468-08	TCGA-E1-5303-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4fecec7-4ee8-4b07-be22-6f816260f0b0	8f5ce4b8-2c8d-4411-b159-0035f461c34b	g.chr1:186948459A>G	ENST00000367466.3	+	17	2125	c.1973A>G	c.(1972-1974)gAa>gGa	p.E658G	PLA2G4A_ENST00000442353.2_Missense_Mutation_p.E598G	NM_024420.2	NP_077734	P47712	PA24A_HUMAN	phospholipase A2, group IVA (cytosolic, calcium-dependent)	658	PLA2c.				phospholipid catabolic process|platelet activating factor biosynthetic process|platelet activation	cytosol|endoplasmic reticulum membrane	calcium ion binding|calcium-dependent phospholipid binding|lysophospholipase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|prostate(3)|skin(4)|stomach(1)	53					Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Medrysone(DB00253)|Quinacrine(DB01103)	GTTCCAAGGGAAACTGAGGAA	0.333													8	140					0	0	0.307466	0	0	G	186948459	A	G	186948459	3	3	155	1	0	0	0	0	1	0	0	0	12049	246	9	3	2035	3	PLA2G4A	1	186948459	Missense_Mutation	SNP	A	TCGA-E1-5303-01A-01D-1468-08		186948459	62302162	1	22842											
KCNH7	90134	broad.mit.edu	37	2	163302583	163302583	+	Missense_Mutation	SNP	T	T	C			TCGA-E1-5303-01A-01D-1468-08	TCGA-E1-5303-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4fecec7-4ee8-4b07-be22-6f816260f0b0	8f5ce4b8-2c8d-4411-b159-0035f461c34b	g.chr2:163302583T>C	ENST00000332142.5	-	7	1598	c.1499A>G	c.(1498-1500)gAc>gGc	p.D500G	KCNH7_ENST00000328032.4_Missense_Mutation_p.D493G	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	500					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	TGCAACCATGTCAATCAGGAA	0.353													4	123					0	0	0.184627	0	0	C	163302583	T	C	163302583	3	2	155	1	0	0	0	0	1	0	0	0	8081	1667	58	3	2197	3	KCNH7	2	163302583	Missense_Mutation	SNP	T	TCGA-E1-5303-01A-01D-1468-08		163302583	79896790	2	22843											
TTN	7273	broad.mit.edu	37	2	179456089	179456089	+	Silent	SNP	G	G	A			TCGA-E1-5303-01A-01D-1468-08	TCGA-E1-5303-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4fecec7-4ee8-4b07-be22-6f816260f0b0	8f5ce4b8-2c8d-4411-b159-0035f461c34b	g.chr2:179456089G>A	ENST00000589042.1	-	304	60587	c.60363C>T	c.(60361-60363)acC>acT	p.T20121T	TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000460472.2_Silent_p.T11056T|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Silent_p.T17553T|TTN_ENST00000359218.5_Silent_p.T11181T|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000591111.1_Silent_p.T18480T|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000342175.6_Silent_p.T11248T	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	18480	Fibronectin type-III 46.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGTGCTCATCGGTTTTAATCT	0.433													276	534					0	0	0.870114	0	0	A	179456089	G	A	179456089	2	1	155	1	0	0	0	0	0	0	0	1	16797	1103	39	1		1	TTN	2	179456089	Silent	SNP	G	TCGA-E1-5303-01A-01D-1468-08	16153506	179456089	63743284	3	22844											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-E1-5303-01A-01D-1468-08	TCGA-E1-5303-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4fecec7-4ee8-4b07-be22-6f816260f0b0	8f5ce4b8-2c8d-4411-b159-0035f461c34b	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	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								45	96					0	0	0.859065	0	0	T	209113112	C	T	209113112	3	4	155	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-E1-5303-01A-01D-1468-08	29657023	209113112	34086261	4	22845											
SLC23A3	151295	broad.mit.edu	37	2	220034279	220034279	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-5303-01A-01D-1468-08	TCGA-E1-5303-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4fecec7-4ee8-4b07-be22-6f816260f0b0	8f5ce4b8-2c8d-4411-b159-0035f461c34b	g.chr2:220034279C>T	ENST00000455516.2	-	2	331	c.284G>A	c.(283-285)gGt>gAt	p.G95D	SLC23A3_ENST00000295738.7_Missense_Mutation_p.G95D|SLC23A3_ENST00000409878.3_Missense_Mutation_p.G95D|SLC23A3_ENST00000396775.3_Missense_Mutation_p.G37D	NM_001144890.1	NP_001138362.1	Q6PIS1	S23A3_HUMAN	solute carrier family 23, member 3	95					transmembrane transport	integral to membrane	protein binding|transporter activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	11		Renal(207;0.0474)		Epithelial(149;9.27e-07)|all cancers(144;0.000156)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGTAGACATACCACATGAAAA	0.582													97	240					0	0	0.870114	0	0	T	220034279	C	T	220034279	3	4	155	1	0	0	0	0	1	0	0	0	14519	507	18	2	1616	2	SLC23A3	2	220034279	Missense_Mutation	SNP	C	TCGA-E1-5303-01A-01D-1468-08	10921167	220034279	23165094	5	22846											
CACNA2D3	55799	broad.mit.edu	37	3	55052339	55052339	+	Silent	SNP	C	C	T			TCGA-E1-5303-01A-01D-1468-08	TCGA-E1-5303-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4fecec7-4ee8-4b07-be22-6f816260f0b0	8f5ce4b8-2c8d-4411-b159-0035f461c34b	g.chr3:55052339C>T	ENST00000474759.1	+	35	3030	c.2982C>T	c.(2980-2982)tgC>tgT	p.C994C	CACNA2D3_ENST00000288197.5_Silent_p.C994C|CACNA2D3_ENST00000415676.2_Silent_p.C994C|CACNA2D3_ENST00000478261.1_3'UTR|CACNA2D3_ENST00000490478.1_Silent_p.C900C	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3	994						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		GTGAAGACTGCTCCAAGTAAG	0.502													16	33					0	0	0.479597	0	0	T	55052339	C	T	55052339	2	4	155	1	0	0	0	0	0	0	0	1	2568	805	28	2		2	CACNA2D3	3	55052339	Silent	SNP	C	TCGA-E1-5303-01A-01D-1468-08		55052339	142970091	6	22847											
SENP7	57337	broad.mit.edu	37	3	101177814	101177814	+	Missense_Mutation	SNP	T	T	G			TCGA-E1-5303-01A-01D-1468-08	TCGA-E1-5303-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4fecec7-4ee8-4b07-be22-6f816260f0b0	8f5ce4b8-2c8d-4411-b159-0035f461c34b	g.chr3:101177814T>G	ENST00000394095.2	-	4	322	c.269A>C	c.(268-270)aAg>aCg	p.K90T	SENP7_ENST00000314261.7_Missense_Mutation_p.K90T|SENP7_ENST00000348610.3_Missense_Mutation_p.K57T|SENP7_ENST00000394091.1_Missense_Mutation_p.K57T|SENP7_ENST00000358203.3_Missense_Mutation_p.K57T|SENP7_ENST00000394094.2_Missense_Mutation_p.K90T	NM_001282802.1|NM_020654.3	NP_001269731.1|NP_065705.3	Q9BQF6	SENP7_HUMAN	SUMO1/sentrin specific peptidase 7	90				K -> R (in Ref. 3; CAB66534).	proteolysis	nucleus	cysteine-type peptidase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						TGGTGATGACTTGGAAGTAAC	0.358													75	368					0	0	0.870114	0	0	G	101177814	T	G	101177814	3	3	155	1	0	0	0	0	1	0	0	0	14105	1609	56	5	2967	5	SENP7	3	101177814	Missense_Mutation	SNP	T	TCGA-E1-5303-01A-01D-1468-08	46125475	101177814	96844616	7	22848											
PLXNA1	5361	broad.mit.edu	37	3	126724979	126724979	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-5303-01A-01D-1468-08	TCGA-E1-5303-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4fecec7-4ee8-4b07-be22-6f816260f0b0	8f5ce4b8-2c8d-4411-b159-0035f461c34b	g.chr3:126724979C>T	ENST00000251772.4	+	7	1955	c.1886C>T	c.(1885-1887)gCg>gTg	p.A629V	PLXNA1_ENST00000393409.2_Missense_Mutation_p.A652V			Q9UIW2	PLXA1_HUMAN	plexin A1	652					axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		AAGAAGTTTGCGTCTGTGGAC	0.602													5	205					0	0	0.184627	0	0	T	126724979	C	T	126724979	3	4	155	1	0	0	0	0	1	0	0	0	12167	768	27	1	1981	1	PLXNA1	3	126724979	Missense_Mutation	SNP	C	TCGA-E1-5303-01A-01D-1468-08	25547165	126724979	71297451	8	22849											
ZMAT3	64393	broad.mit.edu	37	3	178748788	178748788	+	Splice_Site	SNP	C	C	G			TCGA-E1-5303-01A-01D-1468-08	TCGA-E1-5303-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4fecec7-4ee8-4b07-be22-6f816260f0b0	8f5ce4b8-2c8d-4411-b159-0035f461c34b	g.chr3:178748788C>G	ENST00000311417.2	-	3	1012		c.e3-1		ZMAT3_ENST00000432729.1_Splice_Site	NM_022470.3	NP_071915.1	Q9HA38	ZMAT3_HUMAN	zinc finger, matrin-type 3						apoptosis|protein transport|regulation of growth|response to DNA damage stimulus|transmembrane transport	nucleolus	RNA binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(6)|lung(2)|ovary(2)|prostate(1)|skin(1)	14	all_cancers(143;3.31e-18)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;6.74e-27)|GBM - Glioblastoma multiforme(14;0.00448)|BRCA - Breast invasive adenocarcinoma(182;0.0527)			GATTTTTACCCTAGAAATAAA	0.398													44	72					0	0	0.847076	0	0	G	178748788	C	G	178748788	5	3	155	1	0	0	0	0	0	0	1	0	17751	695	24	4	615	4	ZMAT3	3	178748788	Splice_Site	SNP	C	TCGA-E1-5303-01A-01D-1468-08	52023809	178748788	19273642	9	22850											
AFP	174	broad.mit.edu	37	4	74303981	74303981	+	Missense_Mutation	SNP	A	A	C			TCGA-E1-5303-01A-01D-1468-08	TCGA-E1-5303-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4fecec7-4ee8-4b07-be22-6f816260f0b0	8f5ce4b8-2c8d-4411-b159-0035f461c34b	g.chr4:74303981A>C	ENST00000395792.2	+	3	328	c.228A>C	c.(226-228)aaA>aaC	p.K76N	AFP_ENST00000226359.2_Missense_Mutation_p.K76N	NM_001134.1	NP_001125.1	P02771	FETA_HUMAN	alpha-fetoprotein	76	Albumin 1.				transport		metal ion binding			breast(1)|endometrium(2)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|urinary_tract(1)	22	Breast(15;0.00102)		Epithelial(6;2.42e-05)|all cancers(17;0.000268)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			CAATTGAGAAACCCACTggag	0.363									Alpha-Fetoprotein, Hereditary Persistence of				23	112					0	0	0.608945	0	0	C	74303981	A	C	74303981	3	2	155	1	0	0	0	0	1	0	0	0	362	40	2	5	238	5	AFP	4	74303981	Missense_Mutation	SNP	A	TCGA-E1-5303-01A-01D-1468-08		74303981	116850295	10	22851											
SPZ1	84654	broad.mit.edu	37	5	79616896	79616896	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-5303-01A-01D-1468-08	TCGA-E1-5303-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4fecec7-4ee8-4b07-be22-6f816260f0b0	8f5ce4b8-2c8d-4411-b159-0035f461c34b	g.chr5:79616896G>A	ENST00000296739.4	+	1	1107	c.862G>A	c.(862-864)Ggt>Agt	p.G288S		NM_032567.3	NP_115956.3	Q9BXG8	SPZ1_HUMAN	spermatogenic leucine zipper 1	288					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			endometrium(2)|kidney(5)|large_intestine(4)|lung(12)|ovary(1)|skin(2)	26		Lung NSC(167;0.0393)|all_lung(232;0.0428)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;3.43e-47)|Epithelial(54;2.25e-41)|all cancers(79;4.19e-36)		TAATGGAGTCGGTTTCCAAAC	0.413													68	118					0	0	0.870114	0	0	A	79616896	G	A	79616896	3	1	155	1	0	0	0	0	1	0	0	0	15183	1116	39	1	864	1	SPZ1	5	79616896	Missense_Mutation	SNP	G	TCGA-E1-5303-01A-01D-1468-08		79616896	101298364	11	22852											
TRIM52	84851	broad.mit.edu	37	5	180687093	180687093	+	Missense_Mutation	SNP	T	T	C			TCGA-E1-5303-01A-01D-1468-08	TCGA-E1-5303-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4fecec7-4ee8-4b07-be22-6f816260f0b0	8f5ce4b8-2c8d-4411-b159-0035f461c34b	g.chr5:180687093T>C	ENST00000327767.4	-	1	1026	c.722A>G	c.(721-723)gAc>gGc	p.D241G	TRIM52_ENST00000514805.1_5'UTR|CTC-338M12.4_ENST00000511331.1_RNA	NM_032765.2	NP_116154.1	Q96A61	TRI52_HUMAN	tripartite motif containing 52	241						intracellular	zinc ion binding			endometrium(1)|large_intestine(2)|lung(3)|skin(1)|stomach(1)	8	all_cancers(89;8.79e-06)|all_epithelial(37;1.13e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0654)	all_cancers(40;0.0106)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0588)|all_lung(500;0.149)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.232)		GGCCTCTTTGTCCACCTCACA	0.542													107	171					0	0	0.870114	0	0	C	180687093	T	C	180687093	3	2	155	1	0	0	0	0	1	0	0	0	16588	1667	58	3	179	3	TRIM52	5	180687093	Missense_Mutation	SNP	T	TCGA-E1-5303-01A-01D-1468-08	101070197	180687093	228167	12	22853											
EXOC2	55770	broad.mit.edu	37	6	564075	564075	+	Nonsense_Mutation	SNP	G	G	A			TCGA-E1-5303-01A-01D-1468-08	TCGA-E1-5303-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4fecec7-4ee8-4b07-be22-6f816260f0b0	8f5ce4b8-2c8d-4411-b159-0035f461c34b	g.chr6:564075G>A	ENST00000230449.4	-	16	1882	c.1747C>T	c.(1747-1749)Cga>Tga	p.R583*	EXOC2_ENST00000448181.3_Nonsense_Mutation_p.R178*	NM_018303.5	NP_060773.3	Q96KP1	EXOC2_HUMAN	exocyst complex component 2	583					exocytosis|protein transport					breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|liver(1)|lung(16)|ovary(4)|pancreas(1)|prostate(2)	46	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)		CAACGTACTCGGAGATCCAAG	0.458													3	94					0	0	0.184627	0	0	A	564075	G	A	564075	4	1	155	1	0	0	0	0	0	1	0	0	5329	1124	39	1	1079	1	EXOC2	6	564075	Nonsense_Mutation	SNP	G	TCGA-E1-5303-01A-01D-1468-08		564075	170550992	13	22854											
UTRN	7402	broad.mit.edu	37	6	144872125	144872125	+	Missense_Mutation	SNP	C	C	T	rs114254210	byFrequency	TCGA-E1-5303-01A-01D-1468-08	TCGA-E1-5303-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4fecec7-4ee8-4b07-be22-6f816260f0b0	8f5ce4b8-2c8d-4411-b159-0035f461c34b	g.chr6:144872125C>T	ENST00000367545.3	+	47	6835	c.6835C>T	c.(6835-6837)Cgc>Tgc	p.R2279C		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	2279					muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		CTTAGAACAGCGCCATCCTCA	0.338													45	108					0	0	0.853193	0	0	T	144872125	C	T	144872125	3	4	155	1	0	0	0	0	1	0	0	0	17163	768	27	1	7021	1	UTRN	6	144872125	Missense_Mutation	SNP	C	TCGA-E1-5303-01A-01D-1468-08	144308050	144872125	26242942	14	22855											
HEATR2	54919	broad.mit.edu	37	7	813720	813720	+	Missense_Mutation	SNP	A	A	G			TCGA-E1-5303-01A-01D-1468-08	TCGA-E1-5303-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4fecec7-4ee8-4b07-be22-6f816260f0b0	8f5ce4b8-2c8d-4411-b159-0035f461c34b	g.chr7:813720A>G	ENST00000297440.6	+	10	1987	c.1967A>G	c.(1966-1968)gAc>gGc	p.D656G	HEATR2_ENST00000313147.5_Missense_Mutation_p.D656G|HEATR2_ENST00000403952.3_Missense_Mutation_p.D81G	NM_017802.3	NP_060272.3	Q86Y56	HEAT2_HUMAN	HEAT repeat containing 2	656							protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(4)|skin(1)	22		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0182)|Epithelial(4;5.48e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.95e-16)|all cancers(6;2.98e-14)		GTGACAAAGGACATCCTGGCC	0.642													55	151					0	0	0.870114	0	0	G	813720	A	G	813720	3	3	155	1	0	0	0	0	1	0	0	0	7069	275	10	3	2005	3	HEATR2	7	813720	Missense_Mutation	SNP	A	TCGA-E1-5303-01A-01D-1468-08		813720	158324943	15	22856											
ZAN	7455	broad.mit.edu	37	7	100369720	100369721	+	RNA	INS	-	-	T			TCGA-E1-5303-01A-01D-1468-08	TCGA-E1-5303-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4fecec7-4ee8-4b07-be22-6f816260f0b0	8f5ce4b8-2c8d-4411-b159-0035f461c34b	g.chr7:100369720_100369721insT	ENST00000542585.1	+	0	5573				ZAN_ENST00000546292.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000421100.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			cctctaaattcttttttttttt	0.535													5	9	---	---	---	---						T	100369721	-	T	100369720	6	5	155	0	1	1	1	0	0	0	0	0	17573	928	32	0		0	ZAN	7	100369720	RNA	INS	-	TCGA-E1-5303-01A-01D-1468-08	99556000	100369720	58768943	16	22857											
COG5	10466	broad.mit.edu	37	7	107002756	107002756	+	Silent	SNP	T	T	C			TCGA-E1-5303-01A-01D-1468-08	TCGA-E1-5303-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4fecec7-4ee8-4b07-be22-6f816260f0b0	8f5ce4b8-2c8d-4411-b159-0035f461c34b	g.chr7:107002756T>C	ENST00000393603.2	-	9	1309	c.1038A>G	c.(1036-1038)ggA>ggG	p.G346G	COG5_ENST00000297135.3_Silent_p.G346G|COG5_ENST00000347053.3_Silent_p.G346G	NM_001161520.1	NP_001154992.1	Q9UP83	COG5_HUMAN	component of oligomeric golgi complex 5	346					intra-Golgi vesicle-mediated transport|protein transport	cytosol|Golgi membrane|Golgi transport complex|nucleus	protein binding			breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|skin(4)|stomach(1)	40						TATTTACCTGTCCACAAACAG	0.393													12	83					0	0	0.38729	0	0	C	107002756	T	C	107002756	2	2	155	1	0	0	0	0	0	0	0	1	3684	1654	58	3		3	COG5	7	107002756	Silent	SNP	T	TCGA-E1-5303-01A-01D-1468-08	6633036	107002756	52135907	17	22858											
AGK	55750	broad.mit.edu	37	7	141301025	141301025	+	Missense_Mutation	SNP	A	A	C			TCGA-E1-5303-01A-01D-1468-08	TCGA-E1-5303-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4fecec7-4ee8-4b07-be22-6f816260f0b0	8f5ce4b8-2c8d-4411-b159-0035f461c34b	g.chr7:141301025A>C	ENST00000355413.4	+	5	502	c.242A>C	c.(241-243)gAa>gCa	p.E81A	AGK_ENST00000535825.1_Missense_Mutation_p.E78A|AGK_ENST00000473247.1_Missense_Mutation_p.E53A	NM_018238.3	NP_060708.1	Q53H12	AGK_HUMAN	acylglycerol kinase	81	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway	mitochondrial membrane	acylglycerol kinase activity|ATP binding|diacylglycerol kinase activity|NAD+ kinase activity			breast(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(3)	17	Melanoma(164;0.0171)					ACTCTATTTGAAAAAAATGCT	0.363													22	135					0	0	0.654019	0	0	C	141301025	A	C	141301025	3	2	155	1	0	0	0	0	1	0	0	0	380	246	9	5	256	5	AGK	7	141301025	Missense_Mutation	SNP	A	TCGA-E1-5303-01A-01D-1468-08	34298269	141301025	17837638	18	22859											
KCNV1	27012	broad.mit.edu	37	8	110984685	110984685	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-5303-01A-01D-1468-08	TCGA-E1-5303-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4fecec7-4ee8-4b07-be22-6f816260f0b0	8f5ce4b8-2c8d-4411-b159-0035f461c34b	g.chr8:110984685G>A	ENST00000524391.1	-	3	1825	c.793C>T	c.(793-795)Cgg>Tgg	p.R265W	KCNV1_ENST00000297404.1_Missense_Mutation_p.R265W			Q6PIU1	KCNV1_HUMAN	potassium channel, subfamily V, member 1	265						voltage-gated potassium channel complex	ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)			CACCTGTCCCGCACACACAGG	0.532													12	172					0	0	0.411799	0	0	A	110984685	G	A	110984685	3	1	155	1	0	0	0	0	1	0	0	0	8138	1086	38	1	717	1	KCNV1	8	110984685	Missense_Mutation	SNP	G	TCGA-E1-5303-01A-01D-1468-08		110984685	35379337	19	22860											
C9orf114	51490	broad.mit.edu	37	9	131586077	131586077	+	Missense_Mutation	SNP	G	G	C			TCGA-E1-5303-01A-01D-1468-08	TCGA-E1-5303-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4fecec7-4ee8-4b07-be22-6f816260f0b0	8f5ce4b8-2c8d-4411-b159-0035f461c34b	g.chr9:131586077G>C	ENST00000361256.5	-	11	1051	c.1011C>G	c.(1009-1011)gaC>gaG	p.D337E		NM_016390.3	NP_057474.2	Q5T280	CI114_HUMAN	chromosome 9 open reading frame 114	337										kidney(2)|large_intestine(4)|ovary(1)	7						TGACGTACAGGTCAAAGAGGA	0.642													4	10					0	0	0.150653	0	0	C	131586077	G	C	131586077	3	2	155	1	0	0	0	0	1	0	0	0	2467	1252	44	5	127	5	C9orf114	9	131586077	Missense_Mutation	SNP	G	TCGA-E1-5303-01A-01D-1468-08		131586077	9627354	20	22861											
OR8I2	120586	broad.mit.edu	37	11	55860898	55860898	+	Missense_Mutation	SNP	G	G	C			TCGA-E1-5303-01A-01D-1468-08	TCGA-E1-5303-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4fecec7-4ee8-4b07-be22-6f816260f0b0	8f5ce4b8-2c8d-4411-b159-0035f461c34b	g.chr11:55860898G>C	ENST00000302124.2	+	1	146	c.115G>C	c.(115-117)Gtt>Ctt	p.V39L		NM_001003750.1	NP_001003750.1	Q8N0Y5	OR8I2_HUMAN	olfactory receptor, family 8, subfamily I, member 2	39					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53	Esophageal squamous(21;0.00693)					TCTATTCACTGTTTTGGGAAA	0.378													157	314					0	0	0.870114	0	0	C	55860898	G	C	55860898	3	2	155	1	0	0	0	0	1	0	0	0	11287	1377	48	5	117	5	OR8I2	11	55860898	Missense_Mutation	SNP	G	TCGA-E1-5303-01A-01D-1468-08		55860898	79145618	21	22862											
KIAA1377	57562	broad.mit.edu	37	11	101818852	101818852	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-5303-01A-01D-1468-08	TCGA-E1-5303-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4fecec7-4ee8-4b07-be22-6f816260f0b0	8f5ce4b8-2c8d-4411-b159-0035f461c34b	g.chr11:101818852G>A	ENST00000263468.8	+	4	755	c.485G>A	c.(484-486)cGt>cAt	p.R162H		NM_020802.2	NP_065853.2	Q9P2H0	K1377_HUMAN	KIAA1377	162							protein binding			breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		CCCTTTTCCCGTAGACCAACA	0.348													44	72					0	0	0.847076	0	0	A	101818852	G	A	101818852	3	1	155	1	0	0	0	0	1	0	0	0	8269	1145	40	1	499	1	KIAA1377	11	101818852	Missense_Mutation	SNP	G	TCGA-E1-5303-01A-01D-1468-08	45957954	101818852	33187664	22	22863											
ARID2	196528	broad.mit.edu	37	12	46242662	46242662	+	Nonsense_Mutation	SNP	C	C	T			TCGA-E1-5303-01A-01D-1468-08	TCGA-E1-5303-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4fecec7-4ee8-4b07-be22-6f816260f0b0	8f5ce4b8-2c8d-4411-b159-0035f461c34b	g.chr12:46242662C>T	ENST00000334344.6	+	13	1796	c.1624C>T	c.(1624-1626)Cga>Tga	p.R542*	ARID2_ENST00000422737.1_Nonsense_Mutation_p.R393*|ARID2_ENST00000444670.1_Nonsense_Mutation_p.R152*|ARID2_ENST00000479608.1_3'UTR	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	542					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		TTCTGTTTCTCGAGCAGAAAT	0.343			"N, S, F"		hepatocellular carcinoma								46	91					0	0	0.853193	0	0	T	46242662	C	T	46242662	4	4	155	1	0	0	0	0	0	1	0	0	912	876	31	1	1674	1	ARID2	12	46242662	Nonsense_Mutation	SNP	C	TCGA-E1-5303-01A-01D-1468-08		46242662	87609233	23	22864											
MED13L	23389	broad.mit.edu	37	12	116460278	116460278	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-5303-01A-01D-1468-08	TCGA-E1-5303-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4fecec7-4ee8-4b07-be22-6f816260f0b0	8f5ce4b8-2c8d-4411-b159-0035f461c34b	g.chr12:116460278G>A	ENST00000281928.3	-	5	814	c.608C>T	c.(607-609)tCa>tTa	p.S203L		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	203					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent					NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		TGGTGCAGGTGAAGACTGAGC	0.473													13	34					0	0	0.457914	0	0	A	116460278	G	A	116460278	3	1	155	1	0	0	0	0	1	0	0	0	9481	1294	45	2	6132	2	MED13L	12	116460278	Missense_Mutation	SNP	G	TCGA-E1-5303-01A-01D-1468-08	70217616	116460278	17391617	24	22865											
OR11H4	390442	broad.mit.edu	37	14	20710969	20710969	+	Missense_Mutation	SNP	G	G	C			TCGA-E1-5303-01A-01D-1468-08	TCGA-E1-5303-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4fecec7-4ee8-4b07-be22-6f816260f0b0	8f5ce4b8-2c8d-4411-b159-0035f461c34b	g.chr14:20710969G>C	ENST00000315409.2	+	1	72	c.19G>C	c.(19-21)Gac>Cac	p.D7H		NM_001004479.1	NP_001004479.1	Q8NGC9	O11H4_HUMAN	olfactory receptor, family 11, subfamily H, member 4	7					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	29	all_cancers(95;0.000888)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0146)		CTTCTTTGTAGACTTAAGACC	0.418													4	98					0	0	0.217242	0	0	C	20710969	G	C	20710969	3	2	155	1	0	0	0	0	1	0	0	0	10976	942	33	4	21	4	OR11H4	14	20710969	Missense_Mutation	SNP	G	TCGA-E1-5303-01A-01D-1468-08		20710969	86638571	25	22866											
RPP25	54913	broad.mit.edu	37	15	75248608	75248608	+	Nonsense_Mutation	SNP	C	C	T			TCGA-E1-5303-01A-01D-1468-08	TCGA-E1-5303-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4fecec7-4ee8-4b07-be22-6f816260f0b0	8f5ce4b8-2c8d-4411-b159-0035f461c34b	g.chr15:75248608C>T	ENST00000322177.5	-	1	1197	c.317G>A	c.(316-318)tGg>tAg	p.W106*	RPP25_ENST00000499788.2_Nonsense_Mutation_p.W106*	NM_017793.2	NP_060263.2	Q9BUL9	RPP25_HUMAN	ribonuclease P/MRP 25kDa subunit	106					tRNA processing	nucleus	protein binding|ribonuclease P activity|RNA binding			breast(1)|lung(1)	2						GAGGCTCTGCCACACCTCGCG	0.692													2	5					0	0	0.115264	0	0	T	75248608	C	T	75248608	4	4	155	1	0	0	0	0	0	1	0	0	13663	595	21	2	286	2	RPP25	15	75248608	Nonsense_Mutation	SNP	C	TCGA-E1-5303-01A-01D-1468-08		75248608	27282784	26	22867											
TP53	7157	broad.mit.edu	37	17	7577099	7577099	+	Missense_Mutation	SNP	C	C	T	rs121912660		TCGA-E1-5303-01A-01D-1468-08	TCGA-E1-5303-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4fecec7-4ee8-4b07-be22-6f816260f0b0	8f5ce4b8-2c8d-4411-b159-0035f461c34b	g.chr17:7577099C>T	ENST00000420246.2	-	8	971	c.839G>A	c.(838-840)aGa>aAa	p.R280K	TP53_ENST00000455263.2_Missense_Mutation_p.R280K|TP53_ENST00000359597.4_Missense_Mutation_p.R280K|TP53_ENST00000445888.2_Missense_Mutation_p.R280K|TP53_ENST00000269305.4_Missense_Mutation_p.R280K|TP53_ENST00000413465.2_Intron	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	280	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> G (in sporadic cancers; somatic mutation).|R -> I (in sporadic cancers; somatic mutation).|R -> K (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).|R -> T (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.R280T(65)|p.R280K(49)|p.R280I(16)|p.0?(8)|p.?(2)|p.R280_D281delRD(2)|p.A276_R283delACPGRDRR(1)|p.C275fs*20(1)|p.A276fs*64(1)|p.L265_K305del41(1)|p.G279_R280delGR(1)|p.F270_D281del12(1)|p.G279fs*59(1)|p.D281fs*24(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(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)		GCGCCGGTCTCTCCCAGGACA	0.542		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)			64	20					0	0	0.870114	0	0	T	7577099	C	T	7577099	3	4	155	1	0	0	0	0	1	0	0	0	16442	913	32	2	447	2	TP53	17	7577099	Missense_Mutation	SNP	C	TCGA-E1-5303-01A-01D-1468-08		7577099	73618111	27	22868											
HNF1B	6928	broad.mit.edu	37	17	36099519	36099519	+	Silent	SNP	C	C	T			TCGA-E1-5303-01A-01D-1468-08	TCGA-E1-5303-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4fecec7-4ee8-4b07-be22-6f816260f0b0	8f5ce4b8-2c8d-4411-b159-0035f461c34b	g.chr17:36099519C>T	ENST00000225893.4	-	2	817	c.456G>A	c.(454-456)caG>caA	p.Q152Q	HNF1B_ENST00000560016.1_Silent_p.Q152Q|HNF1B_ENST00000561193.1_Silent_p.Q152Q|HNF1B_ENST00000427275.2_Silent_p.Q152Q	NM_000458.2|NM_001165923.1	NP_000449.1|NP_001159395.1	P35680	HNF1B_HUMAN	HNF1 homeobox B	152					endocrine pancreas development|genitalia development|kidney development|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric nephron tubule development|regulation of pronephros size	nucleus	DNA binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(3)|large_intestine(2)|liver(1)|lung(3)|ovary(3)|prostate(1)|skin(2)	28		Breast(25;0.00765)|Ovarian(249;0.15)	STAD - Stomach adenocarcinoma(1;0.0142)			TGTTGAGATGCTGGGAGAGGT	0.552													3	140					0	0	0.115264	0	0	T	36099519	C	T	36099519	2	4	155	1	0	0	0	0	0	0	0	1	7293	796	28	2		2	HNF1B	17	36099519	Silent	SNP	C	TCGA-E1-5303-01A-01D-1468-08	28522420	36099519	45095691	28	22869											
SRCIN1	80725	broad.mit.edu	37	17	36714502	36714502	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-5303-01A-01D-1468-08	TCGA-E1-5303-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4fecec7-4ee8-4b07-be22-6f816260f0b0	8f5ce4b8-2c8d-4411-b159-0035f461c34b	g.chr17:36714502C>T	ENST00000264659.7	-	11	2386	c.2162G>A	c.(2161-2163)cGc>cAc	p.R721H	SRCIN1_ENST00000578925.1_Missense_Mutation_p.R755H|SRCIN1_ENST00000398579.4_5'UTR	NM_025248.2	NP_079524.2	Q9C0H9	SRCN1_HUMAN	SRC kinase signaling inhibitor 1	593					exocytosis|negative regulation of protein tyrosine kinase activity|positive regulation of protein tyrosine kinase activity|regulation of cell migration|regulation of dendritic spine morphogenesis|substrate adhesion-dependent cell spreading	actin cytoskeleton|axon|cell junction|cytoplasm|dendrite|postsynaptic density|postsynaptic membrane	protein kinase binding			endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)	19						GTTGAGATAGCGCAGCCGTTC	0.701											OREG0024362	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	41	49					0	0	0.840704	0	0	T	36714502	C	T	36714502	3	4	155	1	0	0	0	0	1	0	0	0	15192	768	27	1	1425	1	SRCIN1	17	36714502	Missense_Mutation	SNP	C	TCGA-E1-5303-01A-01D-1468-08	614983	36714502	44480708	29	22870											
C17orf62	79415	broad.mit.edu	37	17	80407088	80407088	+	Translation_Start_Site	SNP	G	G	C			TCGA-E1-5303-01A-01D-1468-08	TCGA-E1-5303-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4fecec7-4ee8-4b07-be22-6f816260f0b0	8f5ce4b8-2c8d-4411-b159-0035f461c34b	g.chr17:80407088G>C	ENST00000336995.7	-	0	119				C17orf62_ENST00000437807.2_Missense_Mutation_p.L15V|C17orf62_ENST00000583359.1_5'UTR|C17orf62_ENST00000577436.1_Missense_Mutation_p.L15V|C17orf62_ENST00000578919.1_Missense_Mutation_p.L15V|C17orf62_ENST00000583617.1_Missense_Mutation_p.L15V|C17orf62_ENST00000342572.8_Intron|C17orf62_ENST00000585064.1_Missense_Mutation_p.L15V|C17orf62_ENST00000578913.1_Missense_Mutation_p.L15V|C17orf62_ENST00000306645.5_Missense_Mutation_p.L15V|C17orf62_ENST00000585080.1_Missense_Mutation_p.L15V|C17orf62_ENST00000434650.2_Missense_Mutation_p.L15V|C17orf62_ENST00000577732.1_Missense_Mutation_p.L15V			Q9BQA9	CQ062_HUMAN	chromosome 17 open reading frame 62							integral to membrane	protein binding			breast(2)|large_intestine(2)|skin(2)|urinary_tract(2)	8	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			GCCCTCTTCAGATGGAGGCGG	0.617													11	3					0	0	0.411799	0	0	C	80407088	G	C	80407088	1	2	155	1	0	0	0	0	0	0	0	0	1879	933	33	4		4	C17orf62	17	80407088	Translation_Start_Site	SNP	G	TCGA-E1-5303-01A-01D-1468-08	43692586	80407088	788122	30	22871											
EMILIN2	84034	broad.mit.edu	37	18	2913269	2913269	+	Missense_Mutation	SNP	T	T	C			TCGA-E1-5303-01A-01D-1468-08	TCGA-E1-5303-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4fecec7-4ee8-4b07-be22-6f816260f0b0	8f5ce4b8-2c8d-4411-b159-0035f461c34b	g.chr18:2913269T>C	ENST00000254528.3	+	8	3188	c.3029T>C	c.(3028-3030)cTc>cCc	p.L1010P	EMILIN2_ENST00000308080.5_3'UTR	NM_032048.2	NP_114437.2	Q9BXX0	EMIL2_HUMAN	elastin microfibril interfacer 2	1010	C1q.				cell adhesion	collagen	extracellular matrix constituent conferring elasticity|protein binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4)	48				READ - Rectum adenocarcinoma(2;0.1)		GCATTCCACCTCATCGTGCAC	0.592													32	57					0	0	0.750413	0	0	C	2913269	T	C	2913269	3	2	155	1	0	0	0	0	1	0	0	0	5122	1551	54	3	3059	3	EMILIN2	18	2913269	Missense_Mutation	SNP	T	TCGA-E1-5303-01A-01D-1468-08		2913269	75163979	31	22872											
FZR1	51343	broad.mit.edu	37	19	3532532	3532532	+	Missense_Mutation	SNP	G	G	C			TCGA-E1-5303-01A-01D-1468-08	TCGA-E1-5303-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4fecec7-4ee8-4b07-be22-6f816260f0b0	8f5ce4b8-2c8d-4411-b159-0035f461c34b	g.chr19:3532532G>C	ENST00000441788.2	+	11	1362	c.1126G>C	c.(1126-1128)Ggc>Cgc	p.G376R	FZR1_ENST00000395095.3_Missense_Mutation_p.G376R|FZR1_ENST00000313639.8_Missense_Mutation_p.G287R	NM_016263.3	NP_057347.2	Q9UM11	FZR_HUMAN	fizzy/cell division cycle 20 related 1 (Drosophila)	376					activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|DNA repair|G2/M transition DNA damage checkpoint|mitosis|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle	cytosol|nucleoplasm	protein binding			endometrium(1)|kidney(4)|liver(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)	13				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)		CTCGGGGGGCGGCACAGCTGA	0.652													7	53					0	0	0.248553	0	0	C	3532532	G	C	3532532	3	2	155	1	0	0	0	0	1	0	0	0	6173	1116	39	5	1164	5	FZR1	19	3532532	Missense_Mutation	SNP	G	TCGA-E1-5303-01A-01D-1468-08		3532532	55596451	32	22873											
FUT6	2528	broad.mit.edu	37	19	5832317	5832317	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-5303-01A-01D-1468-08	TCGA-E1-5303-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4fecec7-4ee8-4b07-be22-6f816260f0b0	8f5ce4b8-2c8d-4411-b159-0035f461c34b	g.chr19:5832317C>T	ENST00000318336.4	-	3	1456	c.262G>A	c.(262-264)Gct>Act	p.A88T	FUT6_ENST00000524754.1_Missense_Mutation_p.A88T|FUT6_ENST00000527106.1_Missense_Mutation_p.A88T|FUT6_ENST00000592563.1_Missense_Mutation_p.A88T|FUT6_ENST00000286955.5_Missense_Mutation_p.A88T	NM_000150.2	NP_000141.1	P51993	FUT6_HUMAN	fucosyltransferase 6 (alpha (1,3) fucosyltransferase)	88					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity|alpha(1,3)-fucosyltransferase activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(2)	6						TTGCAGTCAGCCGTGCCAGGC	0.622													4	116					0	0	0.184627	0	0	T	5832317	C	T	5832317	3	4	155	1	0	0	0	0	1	0	0	0	6143	739	26	2	821	2	FUT6	19	5832317	Missense_Mutation	SNP	C	TCGA-E1-5303-01A-01D-1468-08	2299785	5832317	53296666	33	22874											
ZNF324B	388569	broad.mit.edu	37	19	58966477	58966477	+	Missense_Mutation	SNP	C	C	A			TCGA-E1-5303-01A-01D-1468-08	TCGA-E1-5303-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4fecec7-4ee8-4b07-be22-6f816260f0b0	8f5ce4b8-2c8d-4411-b159-0035f461c34b	g.chr19:58966477C>A	ENST00000391696.1	+	3	1068	c.136C>A	c.(136-138)Cct>Act	p.P46T	ZNF324B_ENST00000545523.1_Intron|ZNF324B_ENST00000336614.4_Intron			Q6AW86	Z324B_HUMAN	zinc finger protein 324B	197	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		CTCCCCCTTGCCTGTCCACTC	0.587													35	65					1.36615e-20	1.55741e-20	0.769981	1	0	A	58966477	C	A	58966477	3	1	155	1	0	0	0	0	1	0	0	0	17902	754	26	5		5	ZNF324B	19	58966477	Missense_Mutation	SNP	C	TCGA-E1-5303-01A-01D-1468-08	53134160	58966477	162506	34	22875											
CHD6	84181	broad.mit.edu	37	20	40045243	40045243	+	Silent	SNP	C	C	T			TCGA-E1-5303-01A-01D-1468-08	TCGA-E1-5303-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4fecec7-4ee8-4b07-be22-6f816260f0b0	8f5ce4b8-2c8d-4411-b159-0035f461c34b	g.chr20:40045243C>T	ENST00000373233.3	-	33	6648	c.6471G>A	c.(6469-6471)gcG>gcA	p.A2157A		NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	2157					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				GGATCTGGGCCGCCAATGCTG	0.552													79	161					0	0	0.870114	0	0	T	40045243	C	T	40045243	2	4	155	1	0	0	0	0	0	0	0	1	3351	639	23	1		1	CHD6	20	40045243	Silent	SNP	C	TCGA-E1-5303-01A-01D-1468-08		40045243	22980277	35	22876											
ZFX	7543	broad.mit.edu	37	X	24229263	24229263	+	Nonsense_Mutation	SNP	C	C	T			TCGA-E1-5303-01A-01D-1468-08	TCGA-E1-5303-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4fecec7-4ee8-4b07-be22-6f816260f0b0	8f5ce4b8-2c8d-4411-b159-0035f461c34b	g.chrX:24229263C>T	ENST00000379177.1	+	11	2615	c.2188C>T	c.(2188-2190)Caa>Taa	p.Q730*	ZFX_ENST00000379188.3_Nonsense_Mutation_p.Q730*|ZFX_ENST00000539115.1_Nonsense_Mutation_p.Q501*|ZFX_ENST00000304543.5_Nonsense_Mutation_p.Q730*|ZFX_ENST00000540034.1_Nonsense_Mutation_p.Q769*|ZFX_ENST00000338565.3_Nonsense_Mutation_p.Q680*	NM_001178085.1|NM_003410.3	NP_001171556.1|NP_003401.2	P17010	ZFX_HUMAN	zinc finger protein, X-linked	730					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|prostate(1)	24						GGGATTTAGGCAACAGAGTGA	0.408													10	167					0	0	0.361761	0	0	T	24229263	C	T	24229263	4	4	155	1	0	0	0	0	0	1	0	0	17719	711	25	2	2273	2	ZFX	23	24229263	Nonsense_Mutation	SNP	C	TCGA-E1-5303-01A-01D-1468-08		24229263	131041297	36	22877											
GAGE2D	729408	broad.mit.edu	37	X	49208295	49208296	+	In_Frame_Ins	INS	-	-	TAT			TCGA-E1-5303-01A-01D-1468-08	TCGA-E1-5303-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4fecec7-4ee8-4b07-be22-6f816260f0b0	8f5ce4b8-2c8d-4411-b159-0035f461c34b	g.chrX:49208295_49208296insTAT	ENST00000404720.2	+	2	96_97	c.24_25insTAT	c.(25-27)tat>TATtat	p.9_9Y>YY		NM_001098407.1|NM_012196.1	NP_001091877.1|NP_036328.1			G antigen 2D																		GAAGATCGACCTATCGGCCTAG	0.465													9	31	---	---	---	---						TAT	49208296	-	TAT	49208295	7	5	155	1	0	1	1	0	0	0	0	0	6229	668	24	0	366	0	GAGE2D	23	49208295	In_Frame_Ins	INS	-	TCGA-E1-5303-01A-01D-1468-08	24979032	49208295	106062265	37	22878											
ATRX	546	broad.mit.edu	37	X	76939929	76939930	+	Frame_Shift_Ins	INS	-	-	A			TCGA-E1-5303-01A-01D-1468-08	TCGA-E1-5303-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4fecec7-4ee8-4b07-be22-6f816260f0b0	8f5ce4b8-2c8d-4411-b159-0035f461c34b	g.chrX:76939929_76939930insA	ENST00000373344.5	-	9	1032_1033	c.818_819insT	c.(817-819)ttgfs	p.L273fs	ATRX_ENST00000395603.3_Frame_Shift_Ins_p.L235fs|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	273	ADD.				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)	CCAAGTCCAACAAAGGCTCTGG	0.381			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						232	122	---	---	---	---						A	76939930	-	A	76939929	7	5	155	1	0	1	1	0	0	0	0	0	1206	477	17	0	6767	0	ATRX	23	76939929	Frame_Shift_Ins	INS	-	TCGA-E1-5303-01A-01D-1468-08	27731634	76939929	78330631	38	22879											
RPS6KA1	6195	broad.mit.edu	37	1	26898350	26898350	+	Missense_Mutation	SNP	G	G	T			TCGA-E1-5304-01A-01D-1468-08	TCGA-E1-5304-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6b925bf-a091-4254-ad24-d1581fa66cb1	81f4e278-bb3d-4621-886b-5e03e7205291	g.chr1:26898350G>T	ENST00000374168.2	+	19	1917	c.1763G>T	c.(1762-1764)cGc>cTc	p.R588L	RPS6KA1_ENST00000526792.1_Missense_Mutation_p.R496L|RPS6KA1_ENST00000530003.1_Missense_Mutation_p.R572L|RPS6KA1_ENST00000374166.4_Missense_Mutation_p.R577L|RPS6KA1_ENST00000531382.1_Missense_Mutation_p.R597L|RPS6KA1_ENST00000374162.2_Missense_Mutation_p.R496L	NM_002953.3	NP_002944.2	Q15418	KS6A1_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 1	588	Protein kinase 2.				axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|caspase inhibitor activity|magnesium ion binding|protein binding|protein serine/threonine kinase activity			lung(1)	1		all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234)		GTGCTGAAGCGCCAGGGCTAC	0.627													27	35					3.00307e-07	3.27001e-07	0.134883	1	0	T	26898350	G	T	26898350	3	4	156	1	0	0	0	0	1	0	0	0	13702	1087	38	5	1976	5	RPS6KA1	1	26898350	Missense_Mutation	SNP	G	TCGA-E1-5304-01A-01D-1468-08		26898350	222352271	1	22880											
GBP3	2635	broad.mit.edu	37	1	89486247	89486247	+	Missense_Mutation	SNP	T	T	C			TCGA-E1-5304-01A-01D-1468-08	TCGA-E1-5304-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6b925bf-a091-4254-ad24-d1581fa66cb1	81f4e278-bb3d-4621-886b-5e03e7205291	g.chr1:89486247T>C	ENST00000370481.4	-	2	378	c.158A>G	c.(157-159)tAc>tGc	p.Y53C	GBP3_ENST00000475853.2_5'UTR	NM_018284.2	NP_060754.2	Q9H0R5	GBP3_HUMAN	guanylate binding protein 3	53						integral to membrane	GTP binding|GTPase activity			breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	26		Lung NSC(277;0.123)		all cancers(265;0.0103)|Epithelial(280;0.0293)		GTTCATCAGGTAGGATTTTCC	0.517													30	159					0	0	0.116897	0	0	C	89486247	T	C	89486247	3	2	156	1	0	0	0	0	1	0	0	0	6315	1638	57	3	1669	3	GBP3	1	89486247	Missense_Mutation	SNP	T	TCGA-E1-5304-01A-01D-1468-08	62587897	89486247	159764374	2	22881											
ABCB10	23456	broad.mit.edu	37	1	229685030	229685030	+	Silent	SNP	C	C	G			TCGA-E1-5304-01A-01D-1468-08	TCGA-E1-5304-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6b925bf-a091-4254-ad24-d1581fa66cb1	81f4e278-bb3d-4621-886b-5e03e7205291	g.chr1:229685030C>G	ENST00000344517.4	-	2	711	c.669G>C	c.(667-669)ctG>ctC	p.L223L		NM_012089.2	NP_036221.2	Q9NRK6	ABCBA_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 10	223	ABC transmembrane type-1.					integral to mitochondrial membrane|mitochondrial inner membrane	ATP binding|oligopeptide-transporting ATPase activity			breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)	31	Breast(184;0.143)|Ovarian(103;0.249)	Prostate(94;0.167)				CAGCACCACACAGAAACACGG	0.522													15	68					0	0	0.062417	0	0	G	229685030	C	G	229685030	2	3	156	1	0	0	0	0	0	0	0	1	41	465	17	5		5	ABCB10	1	229685030	Silent	SNP	C	TCGA-E1-5304-01A-01D-1468-08	140198783	229685030	19565591	3	22882											
KLF11	8462	broad.mit.edu	37	2	10188340	10188340	+	Silent	SNP	G	G	T			TCGA-E1-5304-01A-01D-1468-08	TCGA-E1-5304-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6b925bf-a091-4254-ad24-d1581fa66cb1	81f4e278-bb3d-4621-886b-5e03e7205291	g.chr2:10188340G>T	ENST00000535335.1	+	3	1041	c.825G>T	c.(823-825)gtG>gtT	p.V275V	KLF11_ENST00000540845.1_Silent_p.V275V|KLF11_ENST00000305883.1_Silent_p.V292V	NM_001177718.1	NP_001171189.1	O14901	KLF11_HUMAN	Kruppel-like factor 11	292					apoptosis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|regulation of transcription involved in S phase of mitotic cell cycle	nucleus	sequence-specific DNA binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.133)|OV - Ovarian serous cystadenocarcinoma(76;0.228)		TGATCCCTGTGACTGGACAAA	0.537											OREG0014425	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	195					0.0381472	0.038942	0.038147	1	0	T	10188340	G	T	10188340	2	4	156	1	0	0	0	0	0	0	0	1	8382	1277	45	5		5	KLF11	2	10188340	Silent	SNP	G	TCGA-E1-5304-01A-01D-1468-08		10188340	233011033	4	22883											
ETAA1	54465	broad.mit.edu	37	2	67631847	67631847	+	Missense_Mutation	SNP	A	A	G			TCGA-E1-5304-01A-01D-1468-08	TCGA-E1-5304-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6b925bf-a091-4254-ad24-d1581fa66cb1	81f4e278-bb3d-4621-886b-5e03e7205291	g.chr2:67631847A>G	ENST00000272342.5	+	5	2163	c.2033A>G	c.(2032-2034)aAc>aGc	p.N678S	ETAA1_ENST00000462772.1_Intron	NM_019002.3	NP_061875.2	Q9NY74	ETAA1_HUMAN	Ewing tumor-associated antigen 1	678						cytoplasm|nucleus				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	33						GGAGCCAAAAACATGTTTGCT	0.363													90	110					0	0	0.139131	0	0	G	67631847	A	G	67631847	3	3	156	1	0	0	0	0	1	0	0	0	5295	43	2	3	2051	3	ETAA1	2	67631847	Missense_Mutation	SNP	A	TCGA-E1-5304-01A-01D-1468-08	57443507	67631847	175567526	5	22884											
ALMS1	7840	broad.mit.edu	37	2	73718168	73718168	+	Missense_Mutation	SNP	T	T	G			TCGA-E1-5304-01A-01D-1468-08	TCGA-E1-5304-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6b925bf-a091-4254-ad24-d1581fa66cb1	81f4e278-bb3d-4621-886b-5e03e7205291	g.chr2:73718168T>G	ENST00000264448.6	+	10	9190	c.9079T>G	c.(9079-9081)Tgt>Ggt	p.C3027G	ALMS1_ENST00000409009.1_Missense_Mutation_p.C2985G	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	3027					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						CCCAAATCACTGTACATTAGC	0.378													64	195					0	0	0.139131	0	0	G	73718168	T	G	73718168	3	3	156	1	0	0	0	0	1	0	0	0	531	1580	55	5	9117	5	ALMS1	2	73718168	Missense_Mutation	SNP	T	TCGA-E1-5304-01A-01D-1468-08	6086321	73718168	169481205	6	22885											
NAT8	9027	broad.mit.edu	37	2	73868641	73868641	+	Missense_Mutation	SNP	G	G	C			TCGA-E1-5304-01A-01D-1468-08	TCGA-E1-5304-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6b925bf-a091-4254-ad24-d1581fa66cb1	81f4e278-bb3d-4621-886b-5e03e7205291	g.chr2:73868641G>C	ENST00000272425.3	-	2	264	c.115C>G	c.(115-117)Ctg>Gtg	p.L39V		NM_003960.3|NM_016347.2	NP_003951.3|NP_057431.2	Q9UHE5	NAT8_HUMAN	N-acetyltransferase 8 (GCN5-related, putative)	39					gastrulation with mouth forming second|response to drug	integral to membrane	N-acetyltransferase activity			breast(1)|endometrium(2)|kidney(2)|lung(2)|ovary(1)|prostate(1)	9						GTTCGAGGCAGCTTCAGCAAT	0.622													63	209					0	0	0.139131	0	0	C	73868641	G	C	73868641	3	2	156	1	0	0	0	0	1	0	0	0	10227	962	34	4	572	4	NAT8	2	73868641	Missense_Mutation	SNP	G	TCGA-E1-5304-01A-01D-1468-08	150473	73868641	169330732	7	22886											
HECW2	57520	broad.mit.edu	37	2	197298053	197298053	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-5304-01A-01D-1468-08	TCGA-E1-5304-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6b925bf-a091-4254-ad24-d1581fa66cb1	81f4e278-bb3d-4621-886b-5e03e7205291	g.chr2:197298053G>A	ENST00000260983.3	-	2	277	c.95C>T	c.(94-96)gCc>gTc	p.A32V		NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2						protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						GCTCTGGGCGGCAAGGCTCTG	0.602													5	231					0	0	0.014758	0	0	A	197298053	G	A	197298053	3	1	156	1	0	0	0	0	1	0	0	0	7084	1203	42	2	4735	2	HECW2	2	197298053	Missense_Mutation	SNP	G	TCGA-E1-5304-01A-01D-1468-08	123429412	197298053	45901320	8	22887											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-E1-5304-01A-01D-1468-08	TCGA-E1-5304-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6b925bf-a091-4254-ad24-d1581fa66cb1	81f4e278-bb3d-4621-886b-5e03e7205291	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	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								107	83					0	0	0.139131	0	0	T	209113112	C	T	209113112	3	4	156	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-E1-5304-01A-01D-1468-08	11815059	209113112	34086261	9	22888											
KCNJ13	3769	broad.mit.edu	37	2	233633140	233633140	+	Missense_Mutation	SNP	A	A	G			TCGA-E1-5304-01A-01D-1468-08	TCGA-E1-5304-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6b925bf-a091-4254-ad24-d1581fa66cb1	81f4e278-bb3d-4621-886b-5e03e7205291	g.chr2:233633140A>G	ENST00000233826.3	-	3	983	c.844T>C	c.(844-846)Tgc>Cgc	p.C282R	GIGYF2_ENST00000373563.4_Intron|GIGYF2_ENST00000452341.2_Intron|GIGYF2_ENST00000409480.1_Intron|GIGYF2_ENST00000409196.3_Intron|GIGYF2_ENST00000409547.1_Intron|KCNJ13_ENST00000409779.1_3'UTR|GIGYF2_ENST00000373566.3_Intron|GIGYF2_ENST00000409451.3_Intron|KCNJ13_ENST00000410029.1_Missense_Mutation_p.C282R	NM_002242.4	NP_002233.2	O60928	IRK13_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 13	282						voltage-gated potassium channel complex	inward rectifier potassium channel activity			endometrium(3)|large_intestine(2)|lung(2)|stomach(1)|urinary_tract(1)	9		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0306)|Lung NSC(271;0.0908)		Epithelial(121;5.9e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0617)		CTCCTTTGGCATATTTCTCCA	0.433													131	120					0	0	0.139131	0	0	G	233633140	A	G	233633140	3	3	156	1	0	0	0	0	1	0	0	0	8091	217	8	3	242	3	KCNJ13	2	233633140	Missense_Mutation	SNP	A	TCGA-E1-5304-01A-01D-1468-08	24520028	233633140	9566233	10	22889											
FYCO1	79443	broad.mit.edu	37	3	46014621	46014621	+	Silent	SNP	C	C	T	rs149291592	byFrequency	TCGA-E1-5304-01A-01D-1468-08	TCGA-E1-5304-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6b925bf-a091-4254-ad24-d1581fa66cb1	81f4e278-bb3d-4621-886b-5e03e7205291	g.chr3:46014621C>T	ENST00000296137.2	-	6	703	c.498G>A	c.(496-498)tcG>tcA	p.S166S	FYCO1_ENST00000535325.1_Silent_p.S166S	NM_024513.3	NP_078789.2	Q9BQS8	FYCO1_HUMAN	FYVE and coiled-coil domain containing 1	166	RUN.				transport	integral to membrane	metal ion binding|protein binding			NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		CAAAGCCCCTCGACGCCAGGT	0.483													26	74					0	0	0.0918	0	0	T	46014621	C	T	46014621	2	4	156	1	0	0	0	0	0	0	0	1	6160	871	31	1		1	FYCO1	3	46014621	Silent	SNP	C	TCGA-E1-5304-01A-01D-1468-08		46014621	152007809	11	22890											
EPHA3	2042	broad.mit.edu	37	3	89448615	89448615	+	Nonsense_Mutation	SNP	G	G	T			TCGA-E1-5304-01A-01D-1468-08	TCGA-E1-5304-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6b925bf-a091-4254-ad24-d1581fa66cb1	81f4e278-bb3d-4621-886b-5e03e7205291	g.chr3:89448615G>T	ENST00000336596.2	+	7	1804	c.1579G>T	c.(1579-1581)Gaa>Taa	p.E527*	EPHA3_ENST00000452448.2_Nonsense_Mutation_p.E527*|EPHA3_ENST00000494014.1_Nonsense_Mutation_p.E527*	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	527	Fibronectin type-III 2.					extracellular region|integral to plasma membrane	ATP binding			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		GTTTGAGTTTGAAACTAGTCC	0.448										TSP Lung(6;0.00050)			30	92					1.57351e-24	1.79307e-24	0.064281	1	0	T	89448615	G	T	89448615	4	4	156	1	0	0	0	0	0	1	0	0	5196	1291	45	5	1605	5	EPHA3	3	89448615	Nonsense_Mutation	SNP	G	TCGA-E1-5304-01A-01D-1468-08	43433994	89448615	108573815	12	22891											
C3orf52	79669	broad.mit.edu	37	3	111835572	111835572	+	Frame_Shift_Del	DEL	G	G	-			TCGA-E1-5304-01A-01D-1468-08	TCGA-E1-5304-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6b925bf-a091-4254-ad24-d1581fa66cb1	81f4e278-bb3d-4621-886b-5e03e7205291	g.chr3:111835572delG	ENST00000431717.2	+	4	553	c.480delG	c.(478-480)cagfs	p.Q160fs	C3orf52_ENST00000430855.1_Intron|C3orf52_ENST00000467942.2_3'UTR|C3orf52_ENST00000264848.5_3'UTR	NM_001171747.1	NP_001165218.1	Q5BVD1	TTMP_HUMAN	chromosome 3 open reading frame 52	0						endoplasmic reticulum membrane|integral to membrane				endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(1)	4						CTGTTTTGCAGAAAAGATTCT	0.458													7	8	---	---	---	---						-	111835572	G	-	111835572	7	5	156	1	0	1	0	1	0	0	0	0	2246	933	33	0	755	0	C3orf52	3	111835572	Frame_Shift_Del	DEL	G	TCGA-E1-5304-01A-01D-1468-08	22386957	111835572	86186858	13	22892											
KIAA1407	57577	broad.mit.edu	37	3	113761686	113761686	+	Silent	SNP	C	C	T			TCGA-E1-5304-01A-01D-1468-08	TCGA-E1-5304-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6b925bf-a091-4254-ad24-d1581fa66cb1	81f4e278-bb3d-4621-886b-5e03e7205291	g.chr3:113761686C>T	ENST00000295878.3	-	4	425	c.279G>A	c.(277-279)gaG>gaA	p.E93E	KIAA1407_ENST00000545063.1_5'UTR|KIAA1407_ENST00000480588.1_5'UTR	NM_020817.1	NP_065868.1	Q8NCU4	K1407_HUMAN	KIAA1407	93										endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						CATTGACCAGCTCCTGAGCTA	0.333													48	137					0	0	0.139131	0	0	T	113761686	C	T	113761686	2	4	156	1	0	0	0	0	0	0	0	1	8271	796	28	2		2	KIAA1407	3	113761686	Silent	SNP	C	TCGA-E1-5304-01A-01D-1468-08	1926114	113761686	84260744	14	22893											
CNGA1	1259	broad.mit.edu	37	4	47938995	47938995	+	Missense_Mutation	SNP	T	T	A			TCGA-E1-5304-01A-01D-1468-08	TCGA-E1-5304-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6b925bf-a091-4254-ad24-d1581fa66cb1	81f4e278-bb3d-4621-886b-5e03e7205291	g.chr4:47938995T>A	ENST00000402813.3	-	10	1865	c.1723A>T	c.(1723-1725)Att>Ttt	p.I575F	CNGA1_ENST00000544810.1_Missense_Mutation_p.I506F|CNGA1_ENST00000514170.1_Missense_Mutation_p.I506F|CNGA1_ENST00000420489.2_Missense_Mutation_p.I506F|CNGA1_ENST00000358519.4_Missense_Mutation_p.I506F			P29973	CNGA1_HUMAN	cyclic nucleotide gated channel alpha 1	506					response to stimulus|visual perception	integral to plasma membrane	cGMP binding|ion channel activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|urinary_tract(1)	28						TTCTTGCAAATATAATCTCCA	0.438													16	283					0	0	0.160694	0	0	A	47938995	T	A	47938995	3	1	156	1	0	0	0	0	1	0	0	0	3619	1406	49	4	560	4	CNGA1	4	47938995	Missense_Mutation	SNP	T	TCGA-E1-5304-01A-01D-1468-08		47938995	143215281	15	22894											
COL25A1	84570	broad.mit.edu	37	4	109765700	109765700	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-5304-01A-01D-1468-08	TCGA-E1-5304-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6b925bf-a091-4254-ad24-d1581fa66cb1	81f4e278-bb3d-4621-886b-5e03e7205291	g.chr4:109765700C>T	ENST00000399132.1	-	30	2134	c.1604G>A	c.(1603-1605)gGt>gAt	p.G535D	COL25A1_ENST00000399127.1_Missense_Mutation_p.G508D|COL25A1_ENST00000399126.1_Missense_Mutation_p.G535D	NM_198721.2	NP_942014.1	Q9BXS0	COPA1_HUMAN	collagen, type XXV, alpha 1	535						collagen|extracellular space	beta-amyloid binding|heparin binding			NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		gccatggggacctggtgggcc	0.433													48	100					0	0	0.139131	0	0	T	109765700	C	T	109765700	3	4	156	1	0	0	0	0	1	0	0	0	3707	507	18	2	480	2	COL25A1	4	109765700	Missense_Mutation	SNP	C	TCGA-E1-5304-01A-01D-1468-08	61826705	109765700	81388576	16	22895											
PKHD1	5314	broad.mit.edu	37	6	51513908	51513908	+	Missense_Mutation	SNP	G	G	T			TCGA-E1-5304-01A-01D-1468-08	TCGA-E1-5304-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6b925bf-a091-4254-ad24-d1581fa66cb1	81f4e278-bb3d-4621-886b-5e03e7205291	g.chr6:51513908G>T	ENST00000371117.3	-	62	11560	c.11285C>A	c.(11284-11286)cCa>cAa	p.P3762Q		NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	3762					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)					TACCAATTGTGGCTGCACTGG	0.413													82	132					1.55521e-42	1.85866e-42	0.139131	1	0	T	51513908	G	T	51513908	3	4	156	1	0	0	0	0	1	0	0	0	12019	1348	47	5	963	5	PKHD1	6	51513908	Missense_Mutation	SNP	G	TCGA-E1-5304-01A-01D-1468-08		51513908	119601159	17	22896											
PHF3	23469	broad.mit.edu	37	6	64356551	64356551	+	Missense_Mutation	SNP	A	A	G			TCGA-E1-5304-01A-01D-1468-08	TCGA-E1-5304-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6b925bf-a091-4254-ad24-d1581fa66cb1	81f4e278-bb3d-4621-886b-5e03e7205291	g.chr6:64356551A>G	ENST00000262043.3	+	2	435	c.95A>G	c.(94-96)gAg>gGg	p.E32G	PHF3_ENST00000393387.1_Missense_Mutation_p.E32G|PHF3_ENST00000509330.1_Missense_Mutation_p.E32G			Q92576	PHF3_HUMAN	PHD finger protein 3	32					multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			GAAGTCTGTGAGGATTTTAGT	0.393													49	143					0	0	0.139131	0	0	G	64356551	A	G	64356551	3	3	156	1	0	0	0	0	1	0	0	0	11884	304	11	3	97	3	PHF3	6	64356551	Missense_Mutation	SNP	A	TCGA-E1-5304-01A-01D-1468-08	12842643	64356551	106758516	18	22897											
MAP3K5	4217	broad.mit.edu	37	6	136932510	136932510	+	Missense_Mutation	SNP	T	T	C			TCGA-E1-5304-01A-01D-1468-08	TCGA-E1-5304-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6b925bf-a091-4254-ad24-d1581fa66cb1	81f4e278-bb3d-4621-886b-5e03e7205291	g.chr6:136932510T>C	ENST00000359015.4	-	18	2791	c.2431A>G	c.(2431-2433)Att>Gtt	p.I811V	MAP3K5_ENST00000355845.4_Missense_Mutation_p.I58V	NM_005923.3	NP_005914.1	Q99683	M3K5_HUMAN	mitogen-activated protein kinase kinase kinase 5	811	Protein kinase.				activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms		ATP binding|caspase activator activity|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein phosphatase binding			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		TAGGTATTAATCAACACATTG	0.368													7	123					0	0	0.02938	0	0	C	136932510	T	C	136932510	3	2	156	1	0	0	0	0	1	0	0	0	9303	1435	50	3	1745	3	MAP3K5	6	136932510	Missense_Mutation	SNP	T	TCGA-E1-5304-01A-01D-1468-08	72575959	136932510	34182557	19	22898											
RINT1	60561	broad.mit.edu	37	7	105189063	105189063	+	Missense_Mutation	SNP	C	C	A			TCGA-E1-5304-01A-01D-1468-08	TCGA-E1-5304-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6b925bf-a091-4254-ad24-d1581fa66cb1	81f4e278-bb3d-4621-886b-5e03e7205291	g.chr7:105189063C>A	ENST00000257700.2	+	7	1133	c.902C>A	c.(901-903)tCt>tAt	p.S301Y		NM_021930.4	NP_068749.3	Q6NUQ1	RINT1_HUMAN	RAD50 interactor 1	301	RINT1/TIP20.				cell cycle|G2/M transition DNA damage checkpoint|protein transport|vesicle-mediated transport	endoplasmic reticulum membrane	protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						GCCTCCCCTTCTGTCATCCTG	0.443													98	347					9.15355e-43	1.12131e-42	0.139131	1	0	A	105189063	C	A	105189063	3	1	156	1	0	0	0	0	1	0	0	0	13428	913	32	4	928	4	RINT1	7	105189063	Missense_Mutation	SNP	C	TCGA-E1-5304-01A-01D-1468-08		105189063	53949600	20	22899											
STK3	6788	broad.mit.edu	37	8	99779474	99779474	+	Missense_Mutation	SNP	T	T	C			TCGA-E1-5304-01A-01D-1468-08	TCGA-E1-5304-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6b925bf-a091-4254-ad24-d1581fa66cb1	81f4e278-bb3d-4621-886b-5e03e7205291	g.chr8:99779474T>C	ENST00000523601.1	-	5	716	c.317A>G	c.(316-318)gAc>gGc	p.D106G	STK3_ENST00000419617.2_Missense_Mutation_p.D78G	NM_001256312.1	NP_001243241.1	Q13188	STK3_HUMAN	serine/threonine kinase 3	78	Protein kinase.				apoptosis|hippo signaling cascade|intracellular protein kinase cascade|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of apoptosis	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein dimerization activity|protein serine/threonine kinase activator activity|protein serine/threonine kinase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	17	Breast(36;2.4e-06)	Breast(495;0.106)	OV - Ovarian serous cystadenocarcinoma(57;0.0382)	KIRC - Kidney renal clear cell carcinoma(542;9.44e-06)		TTCATACCTGTCACATTGCTG	0.313													54	60					0	0	0.139131	0	0	C	99779474	T	C	99779474	3	2	156	1	0	0	0	0	1	0	0	0	15351	1667	58	3	1278	3	STK3	8	99779474	Missense_Mutation	SNP	T	TCGA-E1-5304-01A-01D-1468-08		99779474	46584548	21	22900											
CSMD3	114788	broad.mit.edu	37	8	113988170	113988170	+	Missense_Mutation	SNP	T	T	C			TCGA-E1-5304-01A-01D-1468-08	TCGA-E1-5304-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6b925bf-a091-4254-ad24-d1581fa66cb1	81f4e278-bb3d-4621-886b-5e03e7205291	g.chr8:113988170T>C	ENST00000297405.5	-	7	1482	c.1238A>G	c.(1237-1239)gAc>gGc	p.D413G	CSMD3_ENST00000352409.3_Missense_Mutation_p.D413G|CSMD3_ENST00000343508.3_Missense_Mutation_p.D373G|CSMD3_ENST00000455883.2_Intron	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	413						integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AGAGAGCCCGTCCTTGGACGT	0.478										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			73	265					0	0	0.139131	0	0	C	113988170	T	C	113988170	3	2	156	1	0	0	0	0	1	0	0	0	3971	1667	58	3	10145	3	CSMD3	8	113988170	Missense_Mutation	SNP	T	TCGA-E1-5304-01A-01D-1468-08	14208696	113988170	32375852	22	22901											
PLEC	5339	broad.mit.edu	37	8	145007212	145007212	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-5304-01A-01D-1468-08	TCGA-E1-5304-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6b925bf-a091-4254-ad24-d1581fa66cb1	81f4e278-bb3d-4621-886b-5e03e7205291	g.chr8:145007212C>T	ENST00000322810.4	-	14	2066	c.1897G>A	c.(1897-1899)Gtg>Atg	p.V633M	PLEC_ENST00000345136.3_Missense_Mutation_p.V496M|PLEC_ENST00000398774.2_Missense_Mutation_p.V464M|PLEC_ENST00000356346.3_Missense_Mutation_p.V482M|PLEC_ENST00000527096.1_Missense_Mutation_p.V519M|PLEC_ENST00000354589.3_Missense_Mutation_p.V496M|PLEC_ENST00000357649.2_Missense_Mutation_p.V500M|PLEC_ENST00000436759.2_Missense_Mutation_p.V523M|PLEC_ENST00000354958.2_Missense_Mutation_p.V474M	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	633	Globular 1.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GGGGCCGCCACGCCTGCCTTC	0.662													3	4					0	0	0.069234	0	0	T	145007212	C	T	145007212	3	4	156	1	0	0	0	0	1	0	0	0	12100	536	19	1	12233	1	PLEC	8	145007212	Missense_Mutation	SNP	C	TCGA-E1-5304-01A-01D-1468-08	31019042	145007212	1356810	23	22902											
PCSK5	5125	broad.mit.edu	37	9	78965754	78965754	+	Silent	SNP	G	G	A			TCGA-E1-5304-01A-01D-1468-08	TCGA-E1-5304-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6b925bf-a091-4254-ad24-d1581fa66cb1	81f4e278-bb3d-4621-886b-5e03e7205291	g.chr9:78965754G>A	ENST00000545128.1	+	35	5434	c.4896G>A	c.(4894-4896)gcG>gcA	p.A1632A		NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	797					anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						GAAAAGGAGCGTTGAATTGTT	0.448													129	128					0	0	0.139131	0	0	A	78965754	G	A	78965754	2	1	156	1	0	0	0	0	0	0	0	1	11650	1160	40	1		1	PCSK5	9	78965754	Silent	SNP	G	TCGA-E1-5304-01A-01D-1468-08		78965754	62247677	24	22903											
AKNA	80709	broad.mit.edu	37	9	117139492	117139492	+	Missense_Mutation	SNP	T	T	C			TCGA-E1-5304-01A-01D-1468-08	TCGA-E1-5304-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6b925bf-a091-4254-ad24-d1581fa66cb1	81f4e278-bb3d-4621-886b-5e03e7205291	g.chr9:117139492T>C	ENST00000307564.4	-	3	756	c.595A>G	c.(595-597)Agg>Ggg	p.R199G	AKNA_ENST00000374075.5_Missense_Mutation_p.R118G|AKNA_ENST00000374088.3_Missense_Mutation_p.R199G|AKNA_ENST00000312033.3_Missense_Mutation_p.R199G	NM_030767.4	NP_110394.3	Q7Z591	AKNA_HUMAN	AT-hook transcription factor	199					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						CTCCAGGACCTTGCCGGGCTG	0.612													87	61					0	0	0.139131	0	0	C	117139492	T	C	117139492	3	2	156	1	0	0	0	0	1	0	0	0	460	1608	56	3	3804	3	AKNA	9	117139492	Missense_Mutation	SNP	T	TCGA-E1-5304-01A-01D-1468-08	38173738	117139492	24073939	25	22904											
NEBL	10529	broad.mit.edu	37	10	21097515	21097515	+	Silent	SNP	G	G	A	rs140245727	byFrequency	TCGA-E1-5304-01A-01D-1468-08	TCGA-E1-5304-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6b925bf-a091-4254-ad24-d1581fa66cb1	81f4e278-bb3d-4621-886b-5e03e7205291	g.chr10:21097515G>A	ENST00000377122.4	-	26	3081	c.2685C>T	c.(2683-2685)gaC>gaT	p.D895D	NEBL_ENST00000377159.4_Intron|NEBL_ENST00000417816.2_Intron	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN	nebulette	895	Linker.				regulation of actin filament length		actin binding|structural constituent of muscle			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						CTGACCTGTCGTCTCCGAGAC	0.458													7	331					0	0	0.038147	0	0	A	21097515	G	A	21097515	2	1	156	1	0	0	0	0	0	0	0	1	10350	1136	40	1		1	NEBL	10	21097515	Silent	SNP	G	TCGA-E1-5304-01A-01D-1468-08		21097515	114437232	26	22905											
CHAT	1103	broad.mit.edu	37	10	50901834	50901834	+	Nonstop_Mutation	SNP	G	G	T			TCGA-E1-5304-01A-01D-1468-08	TCGA-E1-5304-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6b925bf-a091-4254-ad24-d1581fa66cb1	81f4e278-bb3d-4621-886b-5e03e7205291	g.chr10:50901834G>T	ENST00000455728.2	+	15	1748	c.1638G>T	c.(1636-1638)taG>taT	p.*546Y	C10orf53_ENST00000535836.1_Missense_Mutation_p.D38Y|C10orf53_ENST00000374113.3_Missense_Mutation_p.D38Y|C10orf53_ENST00000374112.3_Missense_Mutation_p.D38Y|C10orf53_ENST00000374111.3_Missense_Mutation_p.D38Y			P28329	CLAT_HUMAN	choline O-acetyltransferase	0					neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity			central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)	GTTGGCCATAGATGGACATGA	0.463													12	127					2.27111e-07	2.52919e-07	0.09319	1	0	T	50901834	G	T	50901834	4	4	156	1	0	0	0	0	0	0	0	0	3335	942	33	4		4	CHAT	10	50901834	Nonstop_Mutation	SNP	G	TCGA-E1-5304-01A-01D-1468-08	29804319	50901834	84632913	27	22906											
LGI1	9211	broad.mit.edu	37	10	95557106	95557106	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-5304-01A-01D-1468-08	TCGA-E1-5304-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6b925bf-a091-4254-ad24-d1581fa66cb1	81f4e278-bb3d-4621-886b-5e03e7205291	g.chr10:95557106G>A	ENST00000371418.4	+	8	1480	c.1220G>A	c.(1219-1221)cGt>cAt	p.R407H	LGI1_ENST00000371413.3_Intron|LGI1_ENST00000542308.1_Missense_Mutation_p.R359H	NM_005097.2	NP_005088.1	O95970	LGI1_HUMAN	leucine-rich, glioma inactivated 1	407					axon guidance|cell proliferation|positive regulation of cell growth|positive regulation of synaptic transmission	cell junction|extracellular space|synapse	receptor binding			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(18)|ovary(2)|skin(1)	29		Colorectal(252;0.124)				AGTTCCCAGCGTCCTGTAATT	0.433													113	82					0	0	0.139131	0	0	A	95557106	G	A	95557106	3	1	156	1	0	0	0	0	1	0	0	0	8791	1145	40	1	1250	1	LGI1	10	95557106	Missense_Mutation	SNP	G	TCGA-E1-5304-01A-01D-1468-08	44655272	95557106	39977641	28	22907											
PAX6	5080	broad.mit.edu	37	11	31815341	31815341	+	Missense_Mutation	SNP	A	A	G			TCGA-E1-5304-01A-01D-1468-08	TCGA-E1-5304-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6b925bf-a091-4254-ad24-d1581fa66cb1	81f4e278-bb3d-4621-886b-5e03e7205291	g.chr11:31815341A>G	ENST00000419022.1	-	11	1285	c.817T>C	c.(817-819)Tct>Cct	p.S273P	PAX6_ENST00000241001.8_Missense_Mutation_p.S259P|PAX6_ENST00000379129.2_Missense_Mutation_p.S273P|PAX6_ENST00000379107.2_Missense_Mutation_p.S273P|PAX6_ENST00000379123.5_Missense_Mutation_p.S259P|PAX6_ENST00000379132.3_Missense_Mutation_p.S259P|PAX6_ENST00000379111.2_Missense_Mutation_p.S259P|PAX6_ENST00000379115.4_Missense_Mutation_p.S273P	NM_001127612.1|NM_001258462.1|NM_001258463.1	NP_001121084.1|NP_001245391.1|NP_001245392.1	P26367	PAX6_HUMAN	paired box 6	259					blood vessel development|central nervous system development|cornea development in camera-type eye|glucose homeostasis|iris morphogenesis|negative regulation of neurogenesis|neuron fate commitment|pancreatic A cell development|positive regulation of transcription, DNA-dependent|response to wounding|visual perception	cytoplasm|nuclear chromatin	R-SMAD binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|ubiquitin-protein ligase activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)	35	Lung SC(675;0.225)					CTTCGATTAGAAAACCATACC	0.522									Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation				78	5					0	0	0.139131	0	0	G	31815341	A	G	31815341	3	3	156	1	0	0	0	0	1	0	0	0	11530	246	9	3	509	3	PAX6	11	31815341	Missense_Mutation	SNP	A	TCGA-E1-5304-01A-01D-1468-08		31815341	103191175	29	22908											
AHNAK	79026	broad.mit.edu	37	11	62287998	62287998	+	Missense_Mutation	SNP	C	C	A			TCGA-E1-5304-01A-01D-1468-08	TCGA-E1-5304-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6b925bf-a091-4254-ad24-d1581fa66cb1	81f4e278-bb3d-4621-886b-5e03e7205291	g.chr11:62287998C>A	ENST00000378024.4	-	5	14165	c.13891G>T	c.(13891-13893)Gac>Tac	p.D4631Y	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	4631			D -> G (in dbSNP:rs12801123).	RD -> KG (in Ref. 2; AAA69898).	nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				ACTTTGGGGTCCCTGATGTCA	0.522													100	338					2.6645e-62	3.34771e-62	0.139131	1	0	A	62287998	C	A	62287998	3	1	156	1	0	0	0	0	1	0	0	0	411	855	30	5	3901	5	AHNAK	11	62287998	Missense_Mutation	SNP	C	TCGA-E1-5304-01A-01D-1468-08	30472657	62287998	72718518	30	22909											
DPAGT1	1798	broad.mit.edu	37	11	118971495	118971495	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-5304-01A-01D-1468-08	TCGA-E1-5304-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6b925bf-a091-4254-ad24-d1581fa66cb1	81f4e278-bb3d-4621-886b-5e03e7205291	g.chr11:118971495G>A	ENST00000409993.2	-	5	1892	c.341C>T	c.(340-342)gCg>gTg	p.A114V	DPAGT1_ENST00000354202.4_Missense_Mutation_p.A114V|DPAGT1_ENST00000432443.2_Missense_Mutation_p.A7V|DPAGT1_ENST00000445653.1_5'UTR			Q9H3H5	GPT_HUMAN	dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase)	114					dolichol biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|protein oligomerization	integral to endoplasmic reticulum membrane|microsome	phospho-N-acetylmuramoyl-pentapeptide-transferase activity|transferase activity, transferring glycosyl groups|UDP-N-acetylglucosamine-dolichyl-phosphate N-acetylglucosaminephosphotransferase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	17	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.55e-05)		TACATCATCCGCAAAGCCCAG	0.567											OREG0021396	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	115					0	0	0.150653	0	0	A	118971495	G	A	118971495	3	1	156	1	0	0	0	0	1	0	0	0	4737	1087	38	1	913	1	DPAGT1	11	118971495	Missense_Mutation	SNP	G	TCGA-E1-5304-01A-01D-1468-08	56683497	118971495	16035021	31	22910											
MMP19	4327	broad.mit.edu	37	12	56233333	56233333	+	Missense_Mutation	SNP	C	C	T	rs138516871		TCGA-E1-5304-01A-01D-1468-08	TCGA-E1-5304-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6b925bf-a091-4254-ad24-d1581fa66cb1	81f4e278-bb3d-4621-886b-5e03e7205291	g.chr12:56233333C>T	ENST00000322569.4	-	5	804	c.713G>A	c.(712-714)cGg>cAg	p.R238Q	MMP19_ENST00000548629.1_Missense_Mutation_p.R215Q|MMP19_ENST00000409200.3_Intron	NM_002429.4	NP_002420.1	Q99542	MMP19_HUMAN	matrix metallopeptidase 19	238					angiogenesis|cell differentiation|collagen catabolic process|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	26						AAAGTGGGGCCGGTAGCCCTC	0.617													18	63					0	0	0.043863	0	0	T	56233333	C	T	56233333	3	4	156	1	0	0	0	0	1	0	0	0	9705	652	23	1	833	1	MMP19	12	56233333	Missense_Mutation	SNP	C	TCGA-E1-5304-01A-01D-1468-08		56233333	77618562	32	22911											
DYNLL1	8655	broad.mit.edu	37	12	120935907	120935908	+	Frame_Shift_Ins	INS	-	-	TT	rs142458935	by1000genomes	TCGA-E1-5304-01A-01D-1468-08	TCGA-E1-5304-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6b925bf-a091-4254-ad24-d1581fa66cb1	81f4e278-bb3d-4621-886b-5e03e7205291	g.chr12:120935907_120935908insTT	ENST00000392509.2	+	3	425_426	c.164_165insTT	c.(163-168)cattgcfs	p.C56fs	DYNLL1_ENST00000548342.1_Frame_Shift_Ins_p.C56fs|DYNLL1_ENST00000549989.1_Frame_Shift_Ins_p.C56fs|DYNLL1_ENST00000392508.2_Frame_Shift_Ins_p.C56fs|DYNLL1_ENST00000552316.1_3'UTR|DYNLL1_ENST00000552870.1_Intron|DYNLL1_ENST00000242577.6_Frame_Shift_Ins_p.C56fs	NM_001037494.1	NP_001032583.1	P63167	DYL1_HUMAN	dynein, light chain, LC8-type 1	56					actin cytoskeleton organization|activation of pro-apoptotic gene products|anatomical structure morphogenesis|female gamete generation|G2/M transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|microtubule-based process|negative regulation of phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transport	centrosome|cytoplasmic dynein complex|cytosol|microtubule|mitochondrion|nucleus|plasma membrane	motor activity|protein binding					all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CCCACCTGGCATTGCATCGTGG	0.426													35	58	---	---	---	---						TT	120935908	-	TT	120935907	7	5	156	1	0	1	1	0	0	0	0	0	4874	217	8	0	170	0	DYNLL1	12	120935907	Frame_Shift_Ins	INS	-	TCGA-E1-5304-01A-01D-1468-08	64702574	120935907	12915988	33	22912											
CMA1	1215	broad.mit.edu	37	14	24976583	24976583	+	Missense_Mutation	SNP	G	G	A	rs13306251	by1000genomes	TCGA-E1-5304-01A-01D-1468-08	TCGA-E1-5304-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6b925bf-a091-4254-ad24-d1581fa66cb1	81f4e278-bb3d-4621-886b-5e03e7205291	g.chr14:24976583G>A	ENST00000250378.3	-	2	217	c.188C>T	c.(187-189)aCg>aTg	p.T63M	CMA1_ENST00000206446.4_Intron|RP11-80A15.1_ENST00000555109.1_Intron	NM_001836.3	NP_001827.1	P23946	CMA1_HUMAN	chymase 1, mast cell	63	Peptidase S1.				interleukin-1 beta biosynthetic process|proteolysis	extracellular region	serine-type endopeptidase activity			kidney(1)|lung(8)|pancreas(1)|prostate(1)	11				GBM - Glioblastoma multiforme(265;0.0271)		ATGAGCAGCCGTCAGCACAAA	0.488													83	163					0	0	0.139131	0	0	A	24976583	G	A	24976583	3	1	156	1	0	0	0	0	1	0	0	0	3597	1145	40	1	571	1	CMA1	14	24976583	Missense_Mutation	SNP	G	TCGA-E1-5304-01A-01D-1468-08		24976583	82372957	34	22913											
EIF2AK4	440275	broad.mit.edu	37	15	40258023	40258023	+	Silent	SNP	G	G	A			TCGA-E1-5304-01A-01D-1468-08	TCGA-E1-5304-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6b925bf-a091-4254-ad24-d1581fa66cb1	81f4e278-bb3d-4621-886b-5e03e7205291	g.chr15:40258023G>A	ENST00000263791.5	+	8	1039	c.996G>A	c.(994-996)aaG>aaA	p.K332K	EIF2AK4_ENST00000382727.2_Silent_p.K332K|EIF2AK4_ENST00000559624.1_Silent_p.K332K	NM_001013703.2	NP_001013725.2	Q9P2K8	E2AK4_HUMAN	eukaryotic translation initiation factor 2 alpha kinase 4	332	Protein kinase 1.				translation	cytosolic ribosome	aminoacyl-tRNA ligase activity|ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)	40		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)		AAAAAGAGAAGATTGATAAGT	0.443													37	115					0	0	0.069456	0	0	A	40258023	G	A	40258023	2	1	156	1	0	0	0	0	0	0	0	1	5025	933	33	2		2	EIF2AK4	15	40258023	Silent	SNP	G	TCGA-E1-5304-01A-01D-1468-08		40258023	62273369	35	22914											
OSGIN1	29948	broad.mit.edu	37	16	83994303	83994303	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-5304-01A-01D-1468-08	TCGA-E1-5304-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6b925bf-a091-4254-ad24-d1581fa66cb1	81f4e278-bb3d-4621-886b-5e03e7205291	g.chr16:83994303C>T	ENST00000343939.2	+	5	966	c.583C>T	c.(583-585)Cgg>Tgg	p.R195W	OSGIN1_ENST00000361711.3_Missense_Mutation_p.R112W|OSGIN1_ENST00000565123.1_Missense_Mutation_p.R112W|OSGIN1_ENST00000393306.1_Missense_Mutation_p.R112W			Q9UJX0	OSGI1_HUMAN	oxidative stress induced growth inhibitor 1	195					cell differentiation|multicellular organismal development|negative regulation of cell growth		growth factor activity			autonomic_ganglia(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(1)	12						CTGGAAGCACCGGAAGGAGCA	0.657													21	101					0	0	0.069288	0	0	T	83994303	C	T	83994303	3	4	156	1	0	0	0	0	1	0	0	0	11336	643	23	1	601	1	OSGIN1	16	83994303	Missense_Mutation	SNP	C	TCGA-E1-5304-01A-01D-1468-08		83994303	6360450	36	22915											
TP53	7157	broad.mit.edu	37	17	7578550	7578550	+	Missense_Mutation	SNP	G	G	T			TCGA-E1-5304-01A-01D-1468-08	TCGA-E1-5304-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6b925bf-a091-4254-ad24-d1581fa66cb1	81f4e278-bb3d-4621-886b-5e03e7205291	g.chr17:7578550G>T	ENST00000420246.2	-	5	512	c.380C>A	c.(379-381)tCc>tAc	p.S127Y	TP53_ENST00000269305.4_Missense_Mutation_p.S127Y|TP53_ENST00000445888.2_Missense_Mutation_p.S127Y|TP53_ENST00000413465.2_Missense_Mutation_p.S127Y|TP53_ENST00000455263.2_Missense_Mutation_p.S127Y|TP53_ENST00000359597.4_Missense_Mutation_p.S127Y	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	127	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		S -> C (in a sporadic cancer; somatic mutation).|S -> F (in sporadic cancers; somatic mutation).|S -> P (in sporadic cancers; somatic mutation).|S -> T (in sporadic cancers; somatic mutation).|S -> Y (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.S127F(23)|p.0?(8)|p.S127Y(8)|p.S127C(7)|p.Y126_K132delYSPALNK(6)|p.A129fs*20(3)|p.Y126_N131delYSPALN(3)|p.S34C(2)|p.P128fs*42(2)|p.V73fs*9(1)|p.S127fs*36(1)|p.P128fs*18(1)|p.Y126fs*11(1)|p.S127_Q136del10(1)|p.P13fs*18(1)|p.?(1)|p.S34F(1)|p.A36fs*20(1)|p.S127fs*42(1)|p.Y126fs*18(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)		GAGGGCAGGGGAGTACTGTAG	0.552		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)			44	0					1.00001e-27	1.16667e-27	0.11126	1	0	T	7578550	G	T	7578550	3	4	156	1	0	0	0	0	1	0	0	0	16442	1174	41	5	918	5	TP53	17	7578550	Missense_Mutation	SNP	G	TCGA-E1-5304-01A-01D-1468-08		7578550	73616660	37	22916											
ALKBH6	84964	broad.mit.edu	37	19	36501795	36501795	+	Splice_Site	SNP	C	C	T			TCGA-E1-5304-01A-01D-1468-08	TCGA-E1-5304-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6b925bf-a091-4254-ad24-d1581fa66cb1	81f4e278-bb3d-4621-886b-5e03e7205291	g.chr19:36501795C>T	ENST00000486389.1	-	4	1016		c.e4+1		ALKBH6_ENST00000485128.1_Splice_Site|ALKBH6_ENST00000252984.7_Splice_Site|ALKBH6_ENST00000378875.3_Splice_Site|ALKBH6_ENST00000495116.2_Intron|AC002116.8_ENST00000473572.2_RNA			Q3KRA9	ALKB6_HUMAN	alkB, alkylation repair homolog 6 (E. coli)							cytoplasm|nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|skin(1)	9	all_lung(56;1.35e-06)|Lung NSC(56;2.15e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			TGTGTGGTTACCATGATGCCC	0.592													35	88					0	0	0.183431	0	0	T	36501795	C	T	36501795	5	4	156	1	0	0	0	0	0	0	1	0	527	521	18	2	391	2	ALKBH6	19	36501795	Splice_Site	SNP	C	TCGA-E1-5304-01A-01D-1468-08		36501795	22627188	38	22917											
ATRX	546	broad.mit.edu	37	X	76814313	76814313	+	Nonsense_Mutation	SNP	G	G	A			TCGA-E1-5304-01A-01D-1468-08	TCGA-E1-5304-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6b925bf-a091-4254-ad24-d1581fa66cb1	81f4e278-bb3d-4621-886b-5e03e7205291	g.chrX:76814313G>A	ENST00000373344.5	-	29	6545	c.6331C>T	c.(6331-6333)Cga>Tga	p.R2111*	ATRX_ENST00000395603.3_Nonsense_Mutation_p.R2073*|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	2111	Helicase C-terminal.				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.R2111*(1)|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)	ATAAATAATCGTCCTCTGAAA	0.274			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						69	1					0	0	0.139131	0	0	A	76814313	G	A	76814313	4	1	156	1	0	0	0	0	0	1	0	0	1206	1153	40	1	1175	1	ATRX	23	76814313	Nonsense_Mutation	SNP	G	TCGA-E1-5304-01A-01D-1468-08		76814313	78456247	39	22918											
IRS4	8471	broad.mit.edu	37	X	107977802	107977803	+	Frame_Shift_Ins	INS	-	-	C			TCGA-E1-5304-01A-01D-1468-08	TCGA-E1-5304-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6b925bf-a091-4254-ad24-d1581fa66cb1	81f4e278-bb3d-4621-886b-5e03e7205291	g.chrX:107977802_107977803insC	ENST00000372129.2	-	1	1848_1849	c.1772_1773insG	c.(1771-1773)ggcfs	p.G591fs		NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	591						plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						CTGAGCCTTTGCCCCCCCCAGA	0.545													8	421	---	---	---	---						C	107977803	-	C	107977802	7	5	156	1	0	1	1	0	0	0	0	0	7886	1306	46	0	2004	0	IRS4	23	107977802	Frame_Shift_Ins	INS	-	TCGA-E1-5304-01A-01D-1468-08	31163489	107977802	47292758	40	22919											
NBPF1	55672	broad.mit.edu	37	1	16918422	16918424	+	In_Frame_Del	DEL	TTG	TTG	-	rs9730077	by1000genomes	TCGA-E1-5305-01A-01D-1893-08	TCGA-E1-5305-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e66ac-e905-436d-8aee-4da7b8e1df1d	a676be18-91f6-45cd-82d5-a604293c8583	g.chr1:16918422_16918424delTTG	ENST00000430580.2	-	7	980_982	c.93_95delCAA	c.(91-96)aacaaa>aaa	p.N31del		NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	31			N -> K (in dbSNP:rs9730077).			cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		GAACTGCTGTTTGTTCTCTGCCA	0.488													15	1124	---	---	---	---						-	16918424	TTG	-	16918422	7	5	157	1	0	1	0	1	0	0	0	0	10240	1841	64	0	3421	0	NBPF1	1	16918422	In_Frame_Del	DEL	TTG	TCGA-E1-5305-01A-01D-1893-08		16918422	232332199	1	22920											
HNRNPR	10236	broad.mit.edu	37	1	23665036	23665038	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-E1-5305-01A-01D-1893-08	TCGA-E1-5305-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e66ac-e905-436d-8aee-4da7b8e1df1d	a676be18-91f6-45cd-82d5-a604293c8583	g.chr1:23665036_23665038delCTT	ENST00000374612.1	-	3	344_346	c.221_223delAAG	c.(220-225)gaagga>gga	p.E74del	HNRNPR_ENST00000374616.3_In_Frame_Del_p.E74del|HNRNPR_ENST00000426846.2_5'UTR|HNRNPR_ENST00000302271.6_In_Frame_Del_p.E74del|HNRNPR_ENST00000478691.1_5'UTR|HNRNPR_ENST00000606561.1_5'UTR|HNRNPR_ENST00000427764.2_In_Frame_Del_p.E74del	NM_001102398.1|NM_005826.3	NP_001095868.1|NP_005817.1	O43390	HNRPR_HUMAN	heterogeneous nuclear ribonucleoprotein R	74	Asp/Glu-rich (acidic).					catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00394)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;6.83e-27)|Colorectal(126;6.01e-08)|COAD - Colon adenocarcinoma(152;3.32e-06)|GBM - Glioblastoma multiforme(114;6.69e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00357)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0875)|LUSC - Lung squamous cell carcinoma(448;0.19)		GACAGAGCTCCTTCTTCATTAAA	0.365													12	85	---	---	---	---						-	23665038	CTT	-	23665036	7	5	157	1	0	1	0	1	0	0	0	0	7313	690	24	0	1723	0	HNRNPR	1	23665036	In_Frame_Del	DEL	CTT	TCGA-E1-5305-01A-01D-1893-08	6746614	23665036	225585585	2	22921											
AKNAD1	254268	broad.mit.edu	37	1	109380254	109380254	+	Missense_Mutation	SNP	T	T	C			TCGA-E1-5305-01A-01D-1893-08	TCGA-E1-5305-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e66ac-e905-436d-8aee-4da7b8e1df1d	a676be18-91f6-45cd-82d5-a604293c8583	g.chr1:109380254T>C	ENST00000370001.3	-	7	1722	c.1454A>G	c.(1453-1455)tAt>tGt	p.Y485C	AKNAD1_ENST00000357393.4_Missense_Mutation_p.Y192C|AKNAD1_ENST00000369994.1_Missense_Mutation_p.Y485C|AKNAD1_ENST00000369995.3_Missense_Mutation_p.Y485C	NM_152763.4	NP_689976.2	Q5T1N1	AKND1_HUMAN	AKNA domain containing 1	485										breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2)	32						AGCTGAAGTATATTTGCTTTC	0.403													12	98					0	0	0.010729	0	0	C	109380254	T	C	109380254	3	2	157	1	0	0	0	0	1	0	0	0	461	1406	49	3	1096	3	AKNAD1	1	109380254	Missense_Mutation	SNP	T	TCGA-E1-5305-01A-01D-1893-08	85715218	109380254	139870367	3	22922											
FLG	2312	broad.mit.edu	37	1	152280725	152280725	+	Missense_Mutation	SNP	C	C	G			TCGA-E1-5305-01A-01D-1893-08	TCGA-E1-5305-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e66ac-e905-436d-8aee-4da7b8e1df1d	a676be18-91f6-45cd-82d5-a604293c8583	g.chr1:152280725C>G	ENST00000368799.1	-	3	6672	c.6637G>C	c.(6637-6639)Gct>Cct	p.A2213P	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2213	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CAAGAGGAAGCTTCATGATGA	0.562									Ichthyosis				10	537					0	0	0.006214	0	0	G	152280725	C	G	152280725	3	3	157	1	0	0	0	0	1	0	0	0	5955	797	28	4	5552	4	FLG	1	152280725	Missense_Mutation	SNP	C	TCGA-E1-5305-01A-01D-1893-08	42900471	152280725	96969896	4	22923											
DCST2	127579	broad.mit.edu	37	1	155005617	155005617	+	Missense_Mutation	SNP	A	A	C			TCGA-E1-5305-01A-01D-1893-08	TCGA-E1-5305-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e66ac-e905-436d-8aee-4da7b8e1df1d	a676be18-91f6-45cd-82d5-a604293c8583	g.chr1:155005617A>C	ENST00000368424.3	-	2	450	c.392T>G	c.(391-393)cTg>cGg	p.L131R	DCST2_ENST00000295536.5_Missense_Mutation_p.L131R	NM_144622.2	NP_653223.2	Q5T1A1	DCST2_HUMAN	DC-STAMP domain containing 2	131						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|prostate(1)|skin(1)	38	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GGTCTGGTTCAGGGCCAGCTC	0.632													9	14					0	0	0.004482	0	0	C	155005617	A	C	155005617	3	2	157	1	0	0	0	0	1	0	0	0	4326	188	7	5	1985	5	DCST2	1	155005617	Missense_Mutation	SNP	A	TCGA-E1-5305-01A-01D-1893-08	2724892	155005617	94245004	5	22924											
OR10J3	441911	broad.mit.edu	37	1	159284385	159284385	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-5305-01A-01D-1893-08	TCGA-E1-5305-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e66ac-e905-436d-8aee-4da7b8e1df1d	a676be18-91f6-45cd-82d5-a604293c8583	g.chr1:159284385C>T	ENST00000332217.5	-	1	64	c.65G>A	c.(64-66)cGg>cAg	p.R22Q		NM_001004467.1	NP_001004467.1	Q5JRS4	O10J3_HUMAN	olfactory receptor, family 10, subfamily J, member 3	22					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R22Q(1)|p.R22L(1)		breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	47	all_hematologic(112;0.0429)					TTTGTGCTGCCGCCTGAAGCT	0.453													104	168					0	0	0.01441	0	0	T	159284385	C	T	159284385	3	4	157	1	0	0	0	0	1	0	0	0	10959	652	23	1	926	1	OR10J3	1	159284385	Missense_Mutation	SNP	C	TCGA-E1-5305-01A-01D-1893-08	4278768	159284385	89966236	6	22925											
FMOD	2331	broad.mit.edu	37	1	203316483	203316483	+	Missense_Mutation	SNP	G	G	C			TCGA-E1-5305-01A-01D-1893-08	TCGA-E1-5305-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e66ac-e905-436d-8aee-4da7b8e1df1d	a676be18-91f6-45cd-82d5-a604293c8583	g.chr1:203316483G>C	ENST00000354955.4	-	2	1379	c.916C>G	c.(916-918)Cag>Gag	p.Q306E	FMOD_ENST00000493296.1_Intron	NM_002023.4	NP_002014.2	Q06828	FMOD_HUMAN	fibromodulin	306					transforming growth factor beta receptor complex assembly	extracellular space|proteinaceous extracellular matrix				breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	17			BRCA - Breast invasive adenocarcinoma(75;0.171)			GGGATCTTCTGCAGCTGGTTG	0.557													5	158					0	0	0.014758	0	0	C	203316483	G	C	203316483	3	2	157	1	0	0	0	0	1	0	0	0	5992	1328	46	5	222	5	FMOD	1	203316483	Missense_Mutation	SNP	G	TCGA-E1-5305-01A-01D-1893-08	44032098	203316483	45934138	7	22926											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-E1-5305-01A-01D-1893-08	TCGA-E1-5305-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e66ac-e905-436d-8aee-4da7b8e1df1d	a676be18-91f6-45cd-82d5-a604293c8583	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	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								31	43					0	0	0.017118	0	0	T	209113112	C	T	209113112	3	4	157	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-E1-5305-01A-01D-1893-08		209113112	34086261	8	22927											
SLC4A7	9497	broad.mit.edu	37	3	27444777	27444777	+	Missense_Mutation	SNP	A	A	G			TCGA-E1-5305-01A-01D-1893-08	TCGA-E1-5305-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e66ac-e905-436d-8aee-4da7b8e1df1d	a676be18-91f6-45cd-82d5-a604293c8583	g.chr3:27444777A>G	ENST00000295736.5	-	15	2217	c.2147T>C	c.(2146-2148)gTg>gCg	p.V716A	SLC4A7_ENST00000388777.4_Missense_Mutation_p.V266A|SLC4A7_ENST00000437179.1_Missense_Mutation_p.V597A|SLC4A7_ENST00000446700.1_Missense_Mutation_p.V708A|SLC4A7_ENST00000440156.1_Missense_Mutation_p.V712A|SLC4A7_ENST00000445684.1_Missense_Mutation_p.V712A|SLC4A7_ENST00000425128.2_3'UTR|SLC4A7_ENST00000455077.1_Missense_Mutation_p.V597A|SLC4A7_ENST00000435667.2_Missense_Mutation_p.V601A|SLC4A7_ENST00000428386.1_Missense_Mutation_p.V592A|SLC4A7_ENST00000454389.1_Missense_Mutation_p.V725A	NM_003615.4	NP_003606.3	Q9Y6M7	S4A7_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 7	716						apical plasma membrane|basolateral plasma membrane|integral to membrane|stereocilium	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38						AATATAACACACAAGGCTGCT	0.378													67	77					0	0	0.01441	0	0	G	27444777	A	G	27444777	3	3	157	1	0	0	0	0	1	0	0	0	14713	159	6	3	1541	3	SLC4A7	3	27444777	Missense_Mutation	SNP	A	TCGA-E1-5305-01A-01D-1893-08		27444777	170577653	9	22928											
KIF9	64147	broad.mit.edu	37	3	47284702	47284702	+	Silent	SNP	A	A	G			TCGA-E1-5305-01A-01D-1893-08	TCGA-E1-5305-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e66ac-e905-436d-8aee-4da7b8e1df1d	a676be18-91f6-45cd-82d5-a604293c8583	g.chr3:47284702A>G	ENST00000335044.2	-	16	1905	c.1548T>C	c.(1546-1548)ccT>ccC	p.P516P	KIF9_ENST00000265529.3_Silent_p.P516P|KIF9_ENST00000352910.4_Intron|KIF9_ENST00000487440.1_5'UTR|KIF9-AS1_ENST00000429315.3_RNA|KIF9_ENST00000452770.2_Silent_p.P516P|KIF9_ENST00000444589.2_Intron	NM_001134878.1|NM_182902.3	NP_001128350.1|NP_878905.2	Q9HAQ2	KIF9_HUMAN	kinesin family member 9	516					blood coagulation|microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(15)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)	34		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000284)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		TCCCATTCACAGGGCTGCTGG	0.552													3	41					0	0	0.004672	0	0	G	47284702	A	G	47284702	2	3	157	1	0	0	0	0	0	0	0	1	8352	175	7	3		3	KIF9	3	47284702	Silent	SNP	A	TCGA-E1-5305-01A-01D-1893-08	19839925	47284702	150737728	10	22929											
DNAH1	25981	broad.mit.edu	37	3	52416412	52416412	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-5305-01A-01D-1893-08	TCGA-E1-5305-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e66ac-e905-436d-8aee-4da7b8e1df1d	a676be18-91f6-45cd-82d5-a604293c8583	g.chr3:52416412G>A	ENST00000420323.2	+	50	8143	c.7882G>A	c.(7882-7884)Gtc>Atc	p.V2628I		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	2628	AAA 4 (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		TGTGAAGAAGGTCCTGCTCAA	0.582													86	124					0	0	0.01441	0	0	A	52416412	G	A	52416412	3	1	157	1	0	0	0	0	1	0	0	0	4625	1261	44	2	8076	2	DNAH1	3	52416412	Missense_Mutation	SNP	G	TCGA-E1-5305-01A-01D-1893-08	5131710	52416412	145606018	11	22930											
KBTBD8	84541	broad.mit.edu	37	3	67054104	67054104	+	Missense_Mutation	SNP	A	A	G			TCGA-E1-5305-01A-01D-1893-08	TCGA-E1-5305-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e66ac-e905-436d-8aee-4da7b8e1df1d	a676be18-91f6-45cd-82d5-a604293c8583	g.chr3:67054104A>G	ENST00000295568.4	+	3	766	c.635A>G	c.(634-636)aAa>aGa	p.K212R	KBTBD8_ENST00000460576.1_Intron|KBTBD8_ENST00000417314.2_Missense_Mutation_p.K238R|KBTBD8_ENST00000469661.1_3'UTR	NM_032505.2	NP_115894.2	Q8NFY9	KBTB8_HUMAN	kelch repeat and BTB (POZ) domain containing 8	238	BACK.									breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)	20		Lung NSC(201;0.0765)		BRCA - Breast invasive adenocarcinoma(55;6.02e-06)|KIRC - Kidney renal clear cell carcinoma(39;0.105)|Kidney(39;0.125)		ATTTTTGCTAAATGCATACGT	0.388													23	47					0	0	0.014323	0	0	G	67054104	A	G	67054104	3	3	157	1	0	0	0	0	1	0	0	0	8043	14	1	3	723	3	KBTBD8	3	67054104	Missense_Mutation	SNP	A	TCGA-E1-5305-01A-01D-1893-08	14637692	67054104	130968326	12	22931											
ADCY2	108	broad.mit.edu	37	5	7520914	7520914	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-5305-01A-01D-1893-08	TCGA-E1-5305-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e66ac-e905-436d-8aee-4da7b8e1df1d	a676be18-91f6-45cd-82d5-a604293c8583	g.chr5:7520914G>A	ENST00000338316.4	+	3	561	c.472G>A	c.(472-474)Gcc>Acc	p.A158T		NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	158					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding	p.A158T(1)		NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						CATGCGAGACGCCATCATTGC	0.547													50	58					0	0	0.01441	0	0	A	7520914	G	A	7520914	3	1	157	1	0	0	0	0	1	0	0	0	293	1087	38	1	482	1	ADCY2	5	7520914	Missense_Mutation	SNP	G	TCGA-E1-5305-01A-01D-1893-08		7520914	173394346	13	22932											
DNAH5	1767	broad.mit.edu	37	5	13751313	13751313	+	Silent	SNP	G	G	T			TCGA-E1-5305-01A-01D-1893-08	TCGA-E1-5305-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e66ac-e905-436d-8aee-4da7b8e1df1d	a676be18-91f6-45cd-82d5-a604293c8583	g.chr5:13751313G>T	ENST00000265104.4	-	65	11189	c.11085C>A	c.(11083-11085)acC>acA	p.T3695T		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3695	AAA 5 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GCAATTTGGTGGTAATGTAGA	0.383									Kartagener syndrome				5	88					0.00198382	0.00247977	0.02938	1	0	T	13751313	G	T	13751313	2	4	157	1	0	0	0	0	0	0	0	1	4632	1335	47	5		5	DNAH5	5	13751313	Silent	SNP	G	TCGA-E1-5305-01A-01D-1893-08	6230399	13751313	167163947	14	22933											
TNRC18	84629	broad.mit.edu	37	7	5428811	5428812	+	Frame_Shift_Ins	INS	-	-	C			TCGA-E1-5305-01A-01D-1893-08	TCGA-E1-5305-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e66ac-e905-436d-8aee-4da7b8e1df1d	a676be18-91f6-45cd-82d5-a604293c8583	g.chr7:5428811_5428812insC	ENST00000399537.4	-	5	991_992	c.643_644insG	c.(643-645)gagfs	p.E215fs	TNRC18_ENST00000430969.1_Frame_Shift_Ins_p.E215fs			O15417	TNC18_HUMAN	trinucleotide repeat containing 18	215							DNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		CGGAGGCGGCTCCCCGCCGCGG	0.797													2	4	---	---	---	---						C	5428812	-	C	5428811	7	5	157	1	0	1	1	0	0	0	0	0	16399	1551	54	0	8366	0	TNRC18	7	5428811	Frame_Shift_Ins	INS	-	TCGA-E1-5305-01A-01D-1893-08		5428811	153709852	15	22934											
KCNB2	9312	broad.mit.edu	37	8	73849587	73849587	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-5305-01A-01D-1893-08	TCGA-E1-5305-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e66ac-e905-436d-8aee-4da7b8e1df1d	a676be18-91f6-45cd-82d5-a604293c8583	g.chr8:73849587C>T	ENST00000523207.1	+	3	2585	c.1997C>T	c.(1996-1998)aCg>aTg	p.T666M		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	666					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)			AGGGATGGCACGCTGGAGTAT	0.562													34	45					0	0	0.012213	0	0	T	73849587	C	T	73849587	3	4	157	1	0	0	0	0	1	0	0	0	8057	536	19	1	2003	1	KCNB2	8	73849587	Missense_Mutation	SNP	C	TCGA-E1-5305-01A-01D-1893-08		73849587	72514435	16	22935											
ALDH1B1	219	broad.mit.edu	37	9	38396046	38396046	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-5305-01A-01D-1893-08	TCGA-E1-5305-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e66ac-e905-436d-8aee-4da7b8e1df1d	a676be18-91f6-45cd-82d5-a604293c8583	g.chr9:38396046C>T	ENST00000377698.3	+	2	454	c.301C>T	c.(301-303)Cgg>Tgg	p.R101W		NM_000692.4	NP_000683.3	P30837	AL1B1_HUMAN	aldehyde dehydrogenase 1 family, member B1	101					carbohydrate metabolic process	mitochondrial matrix|nucleus	aldehyde dehydrogenase (NAD) activity			NS(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(2)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(29;0.043)|Lung(182;0.115)	NADH(DB00157)	TGCCTCTGAGCGGGGCCGGCT	0.647													47	86					0	0	0.01441	0	0	T	38396046	C	T	38396046	3	4	157	1	0	0	0	0	1	0	0	0	490	759	27	1	303	1	ALDH1B1	9	38396046	Missense_Mutation	SNP	C	TCGA-E1-5305-01A-01D-1893-08		38396046	102817385	17	22936											
ITIH2	3698	broad.mit.edu	37	10	7786812	7786812	+	Missense_Mutation	SNP	T	T	C			TCGA-E1-5305-01A-01D-1893-08	TCGA-E1-5305-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e66ac-e905-436d-8aee-4da7b8e1df1d	a676be18-91f6-45cd-82d5-a604293c8583	g.chr10:7786812T>C	ENST00000358415.4	+	19	2633	c.2467T>C	c.(2467-2469)Tcc>Ccc	p.S823P	ITIH2_ENST00000379587.4_Missense_Mutation_p.S812P	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN	inter-alpha-trypsin inhibitor heavy chain 2	823					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						TAAAGAGATGTCCTTTTCTGT	0.418													23	48					0	0	0.012319	0	0	C	7786812	T	C	7786812	3	2	157	1	0	0	0	0	1	0	0	0	7948	1667	58	3	2541	3	ITIH2	10	7786812	Missense_Mutation	SNP	T	TCGA-E1-5305-01A-01D-1893-08		7786812	127747935	18	22937											
VCL	7414	broad.mit.edu	37	10	75834513	75834513	+	Missense_Mutation	SNP	T	T	G			TCGA-E1-5305-01A-01D-1893-08	TCGA-E1-5305-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e66ac-e905-436d-8aee-4da7b8e1df1d	a676be18-91f6-45cd-82d5-a604293c8583	g.chr10:75834513T>G	ENST00000211998.4	+	6	729	c.635T>G	c.(634-636)tTt>tGt	p.F212C	VCL_ENST00000372755.3_Missense_Mutation_p.F212C|VCL_ENST00000417648.2_Intron|VCL_ENST00000478896.2_Intron	NM_014000.2	NP_054706.1	P18206	VINC_HUMAN	vinculin	212	N-terminal globular head.				adherens junction assembly|apical junction assembly|cell-matrix adhesion|cellular component movement|epithelial cell-cell adhesion|lamellipodium assembly|morphogenesis of an epithelium|muscle contraction|negative regulation of cell migration|platelet activation|platelet degranulation|protein localization at cell surface	costamere|cytosol|extracellular region|focal adhesion	actin binding|alpha-catenin binding|beta-catenin binding|beta-dystroglycan binding|cadherin binding|structural molecule activity		VCL/ALK(4)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20	Prostate(51;0.0112)					ATGAAGATTTTTGTAACAACT	0.269													7	142					0	0	0.008291	0	0	G	75834513	T	G	75834513	3	3	157	1	0	0	0	0	1	0	0	0	17199	1841	64	5	657	5	VCL	10	75834513	Missense_Mutation	SNP	T	TCGA-E1-5305-01A-01D-1893-08	68047701	75834513	59700234	19	22938											
CTSC	1075	broad.mit.edu	37	11	88042410	88042410	+	Missense_Mutation	SNP	T	T	C			TCGA-E1-5305-01A-01D-1893-08	TCGA-E1-5305-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e66ac-e905-436d-8aee-4da7b8e1df1d	a676be18-91f6-45cd-82d5-a604293c8583	g.chr11:88042410T>C	ENST00000227266.5	-	4	676	c.562A>G	c.(562-564)Act>Gct	p.T188A		NM_001814.4	NP_001805	P53634	CATC_HUMAN	cathepsin C	188					immune response	lysosome	cysteine-type endopeptidase activity			large_intestine(7)|lung(8)|ovary(2)|prostate(3)|skin(2)	22		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				ATGTATGTAGTTGCAGTCCAA	0.388													33	47					0	0	0.017118	0	0	C	88042410	T	C	88042410	3	2	157	1	0	0	0	0	1	0	0	0	4055	1725	60	3	845	3	CTSC	11	88042410	Missense_Mutation	SNP	T	TCGA-E1-5305-01A-01D-1893-08		88042410	46964106	20	22939											
WNK1	65125	broad.mit.edu	37	12	999632	999632	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-5305-01A-01D-1893-08	TCGA-E1-5305-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e66ac-e905-436d-8aee-4da7b8e1df1d	a676be18-91f6-45cd-82d5-a604293c8583	g.chr12:999632C>T	ENST00000537687.1	+	22	6885	c.6242C>T	c.(6241-6243)gCg>gTg	p.A2081V	WNK1_ENST00000340908.4_Missense_Mutation_p.A1414V|WNK1_ENST00000315939.6_Missense_Mutation_p.A1821V|WNK1_ENST00000535572.1_Missense_Mutation_p.A1574V|WNK1_ENST00000530271.2_Missense_Mutation_p.A2319V	NM_001184985.1|NM_213655.4	NP_001171914.1|NP_998820.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	1821					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			GTGTCCATGGCGGCTCCAACA	0.463													4	79					0	0	0.021553	0	0	T	999632	C	T	999632	3	4	157	1	0	0	0	0	1	0	0	0	17437	768	27	1	7050	1	WNK1	12	999632	Missense_Mutation	SNP	C	TCGA-E1-5305-01A-01D-1893-08		999632	132852263	21	22940											
CACNA2D4	93589	broad.mit.edu	37	12	1992145	1992145	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-5305-01A-01D-1893-08	TCGA-E1-5305-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e66ac-e905-436d-8aee-4da7b8e1df1d	a676be18-91f6-45cd-82d5-a604293c8583	g.chr12:1992145G>A	ENST00000382722.5	-	13	1735	c.1373C>T	c.(1372-1374)aCg>aTg	p.T458M	CACNA2D4_ENST00000585708.1_Missense_Mutation_p.T394M|CACNA2D4_ENST00000588077.1_Missense_Mutation_p.T394M|CACNA2D4_ENST00000585732.1_Missense_Mutation_p.T343M|CACNA2D4_ENST00000587995.1_Missense_Mutation_p.T458M|CACNA2D4_ENST00000586184.1_Missense_Mutation_p.T458M	NM_172364.4	NP_758952.4	Q7Z3S7	CA2D4_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 4	458	VWFA.					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity	p.T458M(1)		endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		GTCCGCCAGCGTTGAGATCTG	0.642													11	20					0	0	0.013537	0	0	A	1992145	G	A	1992145	3	1	157	1	0	0	0	0	1	0	0	0	2569	1145	40	1	2144	1	CACNA2D4	12	1992145	Missense_Mutation	SNP	G	TCGA-E1-5305-01A-01D-1893-08	992513	1992145	131859750	22	22941											
LPAR5	57121	broad.mit.edu	37	12	6729924	6729924	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-5305-01A-01D-1893-08	TCGA-E1-5305-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e66ac-e905-436d-8aee-4da7b8e1df1d	a676be18-91f6-45cd-82d5-a604293c8583	g.chr12:6729924C>T	ENST00000329858.4	-	2	1247	c.491G>A	c.(490-492)cGt>cAt	p.R164H	LPAR5_ENST00000431922.1_Missense_Mutation_p.R164H|LPAR5_ENST00000540335.1_5'UTR	NM_020400.5	NP_065133.1	Q9H1C0	LPAR5_HUMAN	lysophosphatidic acid receptor 5	164						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(2)|large_intestine(1)|lung(1)|ovary(1)|skin(2)	7						GTAGCGGCAACGCGAGGGCCT	0.726													4	9					0	0	0.014758	0	0	T	6729924	C	T	6729924	3	4	157	1	0	0	0	0	1	0	0	0	8953	536	19	1	631	1	LPAR5	12	6729924	Missense_Mutation	SNP	C	TCGA-E1-5305-01A-01D-1893-08	4737779	6729924	127121971	23	22942											
BICD1	636	broad.mit.edu	37	12	32480873	32480873	+	Missense_Mutation	SNP	A	A	G	rs116296656	by1000genomes	TCGA-E1-5305-01A-01D-1893-08	TCGA-E1-5305-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e66ac-e905-436d-8aee-4da7b8e1df1d	a676be18-91f6-45cd-82d5-a604293c8583	g.chr12:32480873A>G	ENST00000548411.1	+	5	1665	c.1484A>G	c.(1483-1485)aAc>aGc	p.N495S	BICD1_ENST00000281474.5_Missense_Mutation_p.N495S	NM_001003398.1	NP_001003398.1	Q96G01	BICD1_HUMAN	bicaudal D homolog 1 (Drosophila)	495					anatomical structure morphogenesis|intracellular mRNA localization|microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule|positive regulation of receptor-mediated endocytosis|protein localization to organelle|RNA processing|stress granule assembly|viral reproduction	cytoplasmic vesicle|cytoskeleton|cytosol|host cell viral assembly compartment|membrane|perinuclear region of cytoplasm|trans-Golgi network	cytoskeletal adaptor activity|dynactin binding|dynein binding|proteinase activated receptor binding|Rab GTPase binding|structural constituent of cytoskeleton			NS(1)|breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46	all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0201)			AGCATAGCCAACGAAAATCAC	0.458													29	57					0	0	0.027356	0	0	G	32480873	A	G	32480873	3	3	157	1	0	0	0	0	1	0	0	0	1427	43	2	3	1502	3	BICD1	12	32480873	Missense_Mutation	SNP	A	TCGA-E1-5305-01A-01D-1893-08	25750949	32480873	101371022	24	22943											
CENPJ	55835	broad.mit.edu	37	13	25486836	25486836	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-5305-01A-01D-1893-08	TCGA-E1-5305-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e66ac-e905-436d-8aee-4da7b8e1df1d	a676be18-91f6-45cd-82d5-a604293c8583	g.chr13:25486836C>T	ENST00000381884.4	-	2	513	c.328G>A	c.(328-330)Gca>Aca	p.A110T	CENPJ_ENST00000545981.1_Missense_Mutation_p.A110T	NM_018451.4	NP_060921.3	Q9HC77	CENPJ_HUMAN	centromere protein J	110					cell division|centriole replication|G2/M transition of mitotic cell cycle|microtubule nucleation|microtubule polymerization	centriole|cytosol|gamma-tubulin small complex|microtubule	protein domain specific binding|tubulin binding			endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)		CTGTGACATGCCGCTACCTGT	0.433													4	133					0	0	0.009096	0	0	T	25486836	C	T	25486836	3	4	157	1	0	0	0	0	1	0	0	0	3256	739	26	2	3752	2	CENPJ	13	25486836	Missense_Mutation	SNP	C	TCGA-E1-5305-01A-01D-1893-08		25486836	89683042	25	22944											
COG3	83548	broad.mit.edu	37	13	46092961	46092961	+	Silent	SNP	T	T	C			TCGA-E1-5305-01A-01D-1893-08	TCGA-E1-5305-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e66ac-e905-436d-8aee-4da7b8e1df1d	a676be18-91f6-45cd-82d5-a604293c8583	g.chr13:46092961T>C	ENST00000349995.5	+	18	2107	c.1995T>C	c.(1993-1995)aaT>aaC	p.N665N		NM_031431.3	NP_113619	Q96JB2	COG3_HUMAN	component of oligomeric golgi complex 3	665					ER to Golgi vesicle-mediated transport|intra-Golgi vesicle-mediated transport|intracellular protein transport|protein glycosylation|protein localization to organelle|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER	cis-Golgi network|Golgi cisterna membrane|Golgi transport complex	protein binding|protein transporter activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|skin(2)|stomach(1)	24		Lung NSC(96;0.000145)|Breast(56;0.000596)|Prostate(109;0.00438)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000124)		ATAGCAACAATGCCTTGATAG	0.393													27	76					0	0	0.034045	0	0	C	46092961	T	C	46092961	2	2	157	1	0	0	0	0	0	0	0	1	3682	1461	51	3		3	COG3	13	46092961	Silent	SNP	T	TCGA-E1-5305-01A-01D-1893-08	20606125	46092961	69076917	26	22945											
HNRNPC	3183	broad.mit.edu	37	14	21679388	21679414	+	In_Frame_Del	DEL	GTCATCCTCGCCATTGGCGCTGTCTCT	GTCATCCTCGCCATTGGCGCTGTCTCT	-			TCGA-E1-5305-01A-01D-1893-08	TCGA-E1-5305-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e66ac-e905-436d-8aee-4da7b8e1df1d	a676be18-91f6-45cd-82d5-a604293c8583	g.chr14:21679388_21679414delGTCATCCTCGCCATTGGCGCTGTCTCT	ENST00000430246.2	-	8	3801_3827	c.850_876delAGAGACAGCGCCAATGGCGAGGATGAC	c.(850-876)agagacagcgccaatggcgaggatgacdel	p.RDSANGEDD284del	HNRNPC_ENST00000420743.2_In_Frame_Del_p.RDSANGEDD297del|HNRNPC_ENST00000556897.1_In_Frame_Del_p.RDSANGEDD284del|HNRNPC_ENST00000336053.6_3'UTR|HNRNPC_ENST00000555309.1_In_Frame_Del_p.RDSANGEDD296del|HNRNPC_ENST00000556513.1_3'UTR|HNRNPC_ENST00000556628.1_In_Frame_Del_p.RDSANGEDD217del|HNRNPC_ENST00000554969.1_In_Frame_Del_p.RDSANGEDD284del|HNRNPC_ENST00000553300.1_In_Frame_Del_p.RDSANGEDD284del|HNRNPC_ENST00000449098.1_In_Frame_Del_p.RDSANGEDD284del|HNRNPC_ENST00000553753.1_3'UTR|HNRNPC_ENST00000555883.1_In_Frame_Del_p.RDSANGEDD241del|HNRNPC_ENST00000554455.1_In_Frame_Del_p.RDSANGEDD297del|HNRNPC_ENST00000556142.1_3'UTR|HNRNPC_ENST00000320084.7_In_Frame_Del_p.RDSANGEDD297del|HNRNPC_ENST00000557201.1_In_Frame_Del_p.RDSANGEDD297del|HNRNPC_ENST00000555914.1_In_Frame_Del_p.RDSANGEDD283del			P07910	HNRPC_HUMAN	heterogeneous nuclear ribonucleoprotein C (C1/C2)	297	Asp/Glu-rich (acidic).					catalytic step 2 spliceosome|nucleoplasm	identical protein binding|nucleotide binding|RNA binding			breast(1)|liver(1)|lung(6)|skin(1)	9	all_cancers(95;0.00176)		Epithelial(56;1.08e-06)|all cancers(55;8.95e-06)	GBM - Glioblastoma multiforme(265;0.00783)		GTGCTTAAGAGTCATCCTCGCCATTGGCGCTGTCTCTGTCATCCTCT	0.445													63	187	---	---	---	---						-	21679414	GTCATCCTCGCCATTGGCGCTGTCTCT	-	21679388	7	5	157	1	0	1	0	1	0	0	0	0	7303	1020	36	0	9	0	HNRNPC	14	21679388	In_Frame_Del	DEL	GTCATCCTCGCCATTGGCGCTGTCTCT	TCGA-E1-5305-01A-01D-1893-08		21679388	85670152	27	22946											
DMXL2	23312	broad.mit.edu	37	15	51791722	51791724	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-E1-5305-01A-01D-1893-08	TCGA-E1-5305-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e66ac-e905-436d-8aee-4da7b8e1df1d	a676be18-91f6-45cd-82d5-a604293c8583	g.chr15:51791722_51791724delAAG	ENST00000251076.5	-	18	3984_3986	c.3697_3699delCTT	c.(3697-3699)cttdel	p.L1233del	DMXL2_ENST00000449909.3_Intron|DMXL2_ENST00000543779.2_In_Frame_Del_p.L1233del	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	1233						cell junction|synaptic vesicle membrane	Rab GTPase binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		CTATAGATCTAAGAAGAACCCAT	0.424													8	115	---	---	---	---						-	51791724	AAG	-	51791722	7	5	157	1	0	1	0	1	0	0	0	0	4623	349	13	0	5518	0	DMXL2	15	51791722	In_Frame_Del	DEL	AAG	TCGA-E1-5305-01A-01D-1893-08		51791722	50739670	28	22947											
GSPT1	2935	broad.mit.edu	37	16	12009530	12009531	+	In_Frame_Ins	INS	-	-	CCG	rs71408216		TCGA-E1-5305-01A-01D-1893-08	TCGA-E1-5305-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e66ac-e905-436d-8aee-4da7b8e1df1d	a676be18-91f6-45cd-82d5-a604293c8583	g.chr16:12009530_12009531insCCG	ENST00000434724.2	-	1	246_247	c.47_48insCGG	c.(46-48)ggg>ggCGGg	p.16_16G>GG	AC007216.1_ENST00000583357.1_RNA|GSPT1_ENST00000439887.2_In_Frame_Ins_p.16_16G>GG|GSPT1_ENST00000420576.2_Intron	NM_001130006.1|NM_002094.3	NP_001123478.1|NP_002085	P15170	ERF3A_HUMAN	G1 to S phase transition 1	43					G1/S transition of mitotic cell cycle|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|protein methylation	intracellular	GTP binding|GTPase activity|protein binding|translation release factor activity			breast(1)|central_nervous_system(1)|kidney(4)|lung(4)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	14						cgctgctgctcccgccgccgcc	0.772													4	2	---	---	---	---						CCG	12009531	-	CCG	12009530	7	5	157	1	0	1	1	0	0	0	0	0	6867	842	30	0	1925	0	GSPT1	16	12009530	In_Frame_Ins	INS	-	TCGA-E1-5305-01A-01D-1893-08		12009530	78345223	29	22948											
FXR2	9513	broad.mit.edu	37	17	7496341	7496341	+	Frame_Shift_Del	DEL	G	G	-			TCGA-E1-5305-01A-01D-1893-08	TCGA-E1-5305-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e66ac-e905-436d-8aee-4da7b8e1df1d	a676be18-91f6-45cd-82d5-a604293c8583	g.chr17:7496341delG	ENST00000250113.7	-	13	1823	c.1489delC	c.(1489-1491)cggfs	p.R497fs		NM_004860.3	NP_004851.2	P51116	FXR2_HUMAN	fragile X mental retardation, autosomal homolog 2	497						cytosolic large ribosomal subunit	protein binding|RNA binding			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)	26				READ - Rectum adenocarcinoma(115;0.17)		GAAGTGGGCCGGGGGGCAGGT	0.617													14	81	---	---	---	---						-	7496341	G	-	7496341	7	5	157	1	0	1	0	1	0	0	0	0	6151	1115	39	0	452	0	FXR2	17	7496341	Frame_Shift_Del	DEL	G	TCGA-E1-5305-01A-01D-1893-08		7496341	73698869	30	22949											
TP53	7157	broad.mit.edu	37	17	7577129	7577129	+	Missense_Mutation	SNP	A	A	G			TCGA-E1-5305-01A-01D-1893-08	TCGA-E1-5305-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e66ac-e905-436d-8aee-4da7b8e1df1d	a676be18-91f6-45cd-82d5-a604293c8583	g.chr17:7577129A>G	ENST00000420246.2	-	8	941	c.809T>C	c.(808-810)tTt>tCt	p.F270S	TP53_ENST00000445888.2_Missense_Mutation_p.F270S|TP53_ENST00000455263.2_Missense_Mutation_p.F270S|TP53_ENST00000413465.2_Intron|TP53_ENST00000269305.4_Missense_Mutation_p.F270S|TP53_ENST00000359597.4_Missense_Mutation_p.F270S	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	270	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		F -> C (in sporadic cancers; somatic mutation).|F -> I (in sporadic cancers; somatic mutation).|F -> L (in sporadic cancers; somatic mutation).|F -> S (in sporadic cancers; somatic mutation).|F -> V (in sporadic cancers; somatic mutation).|F -> Y (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.F270C(15)|p.0?(8)|p.F270S(8)|p.F270Y(5)|p.?(2)|p.G266_E271delGRNSFE(2)|p.G262_F270delGNLLGRNSF(2)|p.F270fs*72(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.S269fs*34(1)|p.F270_D281del12(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)		ACGCACCTCAAAGCTGTTCCG	0.537		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)			19	6					0	0	0.043863	0	0	G	7577129	A	G	7577129	3	3	157	1	0	0	0	0	1	0	0	0	16442	14	1	3	477	3	TP53	17	7577129	Missense_Mutation	SNP	A	TCGA-E1-5305-01A-01D-1893-08	80788	7577129	73618081	31	22950											
MYOCD	93649	broad.mit.edu	37	17	12666629	12666629	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-5305-01A-01D-1893-08	TCGA-E1-5305-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e66ac-e905-436d-8aee-4da7b8e1df1d	a676be18-91f6-45cd-82d5-a604293c8583	g.chr17:12666629G>A	ENST00000425538.1	+	14	2829	c.2629G>A	c.(2629-2631)Ggg>Agg	p.G877R	RP11-1090M7.1_ENST00000584772.1_RNA|MYOCD_ENST00000343344.4_Missense_Mutation_p.G829R	NM_001146312.1|NM_153604.2	NP_001139784.1|NP_705832.1	Q8IZQ8	MYCD_HUMAN	myocardin	829					cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		TCTAAAAATTGGGAGCGAAGA	0.483													13	107					0	0	0.016723	0	0	A	12666629	G	A	12666629	3	1	157	1	0	0	0	0	1	0	0	0	10135	1348	47	2	2695	2	MYOCD	17	12666629	Missense_Mutation	SNP	G	TCGA-E1-5305-01A-01D-1893-08	5089500	12666629	68528581	32	22951											
ENGASE	64772	broad.mit.edu	37	17	77079175	77079177	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-E1-5305-01A-01D-1893-08	TCGA-E1-5305-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e66ac-e905-436d-8aee-4da7b8e1df1d	a676be18-91f6-45cd-82d5-a604293c8583	g.chr17:77079175_77079177delAGA	ENST00000579016.1	+	8	1112_1114	c.1112_1114delAGA	c.(1111-1116)gagaag>gag	p.K373del	ENGASE_ENST00000584568.1_3'UTR	NM_001042573.2	NP_001036038.1	Q8NFI3	ENASE_HUMAN	endo-beta-N-acetylglucosaminidase	373	BRCT.					cytosol	mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity			breast(2)|endometrium(4)|large_intestine(1)|lung(15)|prostate(2)|skin(1)	25						GAGTGTCTGGAGAAGAAGGATTT	0.562											OREG0024792	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	145	---	---	---	---						-	77079177	AGA	-	77079175	7	5	157	1	0	1	0	1	0	0	0	0	5146	304	11	0	1142	0	ENGASE	17	77079175	In_Frame_Del	DEL	AGA	TCGA-E1-5305-01A-01D-1893-08	64412546	77079175	4116035	33	22952											
CDC34	997	broad.mit.edu	37	19	537058	537060	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-E1-5305-01A-01D-1893-08	TCGA-E1-5305-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e66ac-e905-436d-8aee-4da7b8e1df1d	a676be18-91f6-45cd-82d5-a604293c8583	g.chr19:537058_537060delCTT	ENST00000215574.4	+	4	626_628	c.408_410delCTT	c.(406-411)accttc>acc	p.F137del		NM_004359.1	NP_004350.1	P49427	UB2R1_HUMAN	cell division cycle 34	137					DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|negative regulation of cAMP-mediated signaling|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination	cytoplasm|nucleus	ATP binding|protein binding|ubiquitin-protein ligase activity			large_intestine(1)|lung(1)	2		all_cancers(10;1.94e-35)|all_epithelial(18;5.94e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)		AGCCCAACACCTTCTCGCCCGCA	0.635													42	72	---	---	---	---						-	537060	CTT	-	537058	7	5	157	1	0	1	0	1	0	0	0	0	3089	668	24	0	422	0	CDC34	19	537058	In_Frame_Del	DEL	CTT	TCGA-E1-5305-01A-01D-1893-08		537058	58591925	34	22953											
LBP	3929	broad.mit.edu	37	20	36983811	36983811	+	Splice_Site	SNP	T	T	A			TCGA-E1-5305-01A-01D-1893-08	TCGA-E1-5305-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e66ac-e905-436d-8aee-4da7b8e1df1d	a676be18-91f6-45cd-82d5-a604293c8583	g.chr20:36983811T>A	ENST00000217407.2	+	5	749		c.e5+2			NM_004139.3	NP_004130.2	P18428	LBP_HUMAN	lipopolysaccharide binding protein						acute-phase response|cellular defense response|cellular response to lipoteichoic acid|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|detection of molecule of bacterial origin|innate immune response|lipid transport|lipopolysaccharide transport|lipopolysaccharide-mediated signaling pathway|macrophage activation involved in immune response|negative regulation of tumor necrosis factor production|opsonization|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of macrophage activation|positive regulation of respiratory burst involved in inflammatory response|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of tumor necrosis factor production|Toll signaling pathway	extracellular space	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|lipid binding|lipopolysaccharide binding|lipoteichoic acid binding|receptor binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(1)|urinary_tract(1)	28		Myeloproliferative disorder(115;0.00878)				GAGAGCAGGGTAAGAAGGTCC	0.572													8	35					0	0	0.038147	0	0	A	36983811	T	A	36983811	5	1	157	1	0	0	0	0	0	0	1	0	8690	1652	57	5	608	5	LBP	20	36983811	Splice_Site	SNP	T	TCGA-E1-5305-01A-01D-1893-08		36983811	26041709	35	22954											
IFNGR2	3460	broad.mit.edu	37	21	34799292	34799292	+	Frame_Shift_Del	DEL	T	T	-			TCGA-E1-5305-01A-01D-1893-08	TCGA-E1-5305-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e66ac-e905-436d-8aee-4da7b8e1df1d	a676be18-91f6-45cd-82d5-a604293c8583	g.chr21:34799292delT	ENST00000290219.6	+	4	1162	c.514delT	c.(514-516)tttfs	p.F173fs	IFNGR2_ENST00000381995.1_Frame_Shift_Del_p.F192fs|IFNGR2_ENST00000405436.1_Frame_Shift_Del_p.F94fs	NM_005534.3	NP_005525.2	P38484	INGR2_HUMAN	interferon gamma receptor 2 (interferon gamma transducer 1)	173	Fibronectin type-III 2.				regulation of interferon-gamma-mediated signaling pathway|response to virus	endoplasmic reticulum|integral to plasma membrane	interferon-gamma receptor activity			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(1)	13					Interferon gamma-1b(DB00033)	CTCCACGGCCTTTTTTTGTTA	0.458													8	554	---	---	---	---						-	34799292	T	-	34799292	7	5	157	1	0	1	0	1	0	0	0	0	7594	1609	56	0	528	0	IFNGR2	21	34799292	Frame_Shift_Del	DEL	T	TCGA-E1-5305-01A-01D-1893-08		34799292	13330603	36	22955											
ATRX	546	broad.mit.edu	37	X	76778848	76778849	+	Frame_Shift_Ins	INS	-	-	GTATC			TCGA-E1-5305-01A-01D-1893-08	TCGA-E1-5305-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e66ac-e905-436d-8aee-4da7b8e1df1d	a676be18-91f6-45cd-82d5-a604293c8583	g.chrX:76778848_76778849insGTATC	ENST00000373344.5	-	31	6944_6945	c.6730_6731insGATAC	c.(6730-6732)catfs	p.H2244fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Ins_p.H2206fs	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	2244					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			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)	GTGTTCTTTATGTATCTGAAGG	0.386			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						48	49	---	---	---	---						GTATC	76778849	-	GTATC	76778848	7	5	157	1	0	1	1	0	0	0	0	0	1206	1464	51	0	767	0	ATRX	23	76778848	Frame_Shift_Ins	INS	-	TCGA-E1-5305-01A-01D-1893-08		76778848	78491712	37	22956											
VPS13D	55187	broad.mit.edu	37	1	12378242	12378242	+	Missense_Mutation	SNP	A	A	G			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr1:12378242A>G	ENST00000358136.3	+	31	7392	c.7262A>G	c.(7261-7263)aAg>aGg	p.K2421R	VPS13D_ENST00000356315.4_Missense_Mutation_p.K2421R	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	2421					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		AGTGATATTAAGAAACAAAAT	0.428													4	173					0	0	0.150653	0	0	G	12378242	A	G	12378242	3	3	158	1	0	0	0	0	1	0	0	0	17252	72	3	3	7380	3	VPS13D	1	12378242	Missense_Mutation	SNP	A	TCGA-E1-5307-01A-01D-1893-08		12378242	236872379	1	22957											
KIF17	57576	broad.mit.edu	37	1	20992723	20992723	+	Silent	SNP	G	G	A			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr1:20992723G>A	ENST00000247986.2	-	14	3205	c.2895C>T	c.(2893-2895)gaC>gaT	p.D965D	KIF17_ENST00000400463.3_Silent_p.D964D|KIF17_ENST00000490034.1_5'UTR|KIF17_ENST00000375044.1_Silent_p.D865D			Q9P2E2	KIF17_HUMAN	kinesin family member 17	965					microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding			NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		TCTTCCTGGCGTCTGTGCTGA	0.577													4	104					0	0	0.184627	0	0	A	20992723	G	A	20992723	2	1	158	1	0	0	0	0	0	0	0	1	8321	1136	40	1		1	KIF17	1	20992723	Silent	SNP	G	TCGA-E1-5307-01A-01D-1893-08	8614481	20992723	228257898	2	22958											
LRIG2	9860	broad.mit.edu	37	1	113637236	113637236	+	Missense_Mutation	SNP	A	A	G			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr1:113637236A>G	ENST00000361127.5	+	6	860	c.662A>G	c.(661-663)gAa>gGa	p.E221G		NM_014813.1	NP_055628.1	O94898	LRIG2_HUMAN	leucine-rich repeats and immunoglobulin-like domains 2							cytoplasm|integral to membrane|plasma membrane				breast(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(10)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	31	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)		TGTTAAAGGGAACTTAAAAGA	0.303													21	71					0	0	0.624587	0	0	G	113637236	A	G	113637236	3	3	158	1	0	0	0	0	1	0	0	0	8990	246	9	3	684	3	LRIG2	1	113637236	Missense_Mutation	SNP	A	TCGA-E1-5307-01A-01D-1893-08	92644513	113637236	135613385	3	22959											
PTGFRN	5738	broad.mit.edu	37	1	117504195	117504195	+	Missense_Mutation	SNP	G	G	C			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr1:117504195G>C	ENST00000393203.2	+	5	1691	c.1544G>C	c.(1543-1545)tGt>tCt	p.C515S		NM_020440.2	NP_065173.2	Q9P2B2	FPRP_HUMAN	prostaglandin F2 receptor inhibitor	515	Ig-like C2-type 4.					endoplasmic reticulum membrane|Golgi apparatus|integral to membrane	protein binding			NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)	46	Lung SC(450;0.225)	all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446)		Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248)		AATTATTACTGTGTTGTGTCT	0.453													32	62					0	0	0.760397	0	0	C	117504195	G	C	117504195	3	2	158	1	0	0	0	0	1	0	0	0	12800	1377	48	5	1562	5	PTGFRN	1	117504195	Missense_Mutation	SNP	G	TCGA-E1-5307-01A-01D-1893-08	3866959	117504195	131746426	4	22960											
WARS2	10352	broad.mit.edu	37	1	119683216	119683216	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr1:119683216C>T	ENST00000369426.5	-	1	55	c.52G>A	c.(52-54)Gca>Aca	p.A18T	RP11-418J17.1_ENST00000440150.1_RNA|WARS2_ENST00000235521.4_Missense_Mutation_p.A18T|WARS2_ENST00000497761.1_5'UTR|RP11-418J17.1_ENST00000425884.1_RNA			Q9UGM6	SYWM_HUMAN	tryptophanyl tRNA synthetase 2, mitochondrial	18					tryptophanyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|tryptophan-tRNA ligase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(2)	15	all_neural(166;0.187)	all_lung(203;2.48e-06)|Lung NSC(69;1.74e-05)|all_epithelial(167;0.000564)		Lung(183;0.0629)	L-Tryptophan(DB00150)	TTATGAAGTGCCCGGATGAAG	0.597													19	37					0	0	0.592651	0	0	T	119683216	C	T	119683216	3	4	158	1	0	0	0	0	1	0	0	0	17310	739	26	2	1083	2	WARS2	1	119683216	Missense_Mutation	SNP	C	TCGA-E1-5307-01A-01D-1893-08	2179021	119683216	129567405	5	22961											
LRRN2	10446	broad.mit.edu	37	1	204587235	204587235	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr1:204587235G>A	ENST00000367175.1	-	1	4098	c.1886C>T	c.(1885-1887)cCt>cTt	p.P629L	LRRN2_ENST00000367176.3_Missense_Mutation_p.P629L|LRRN2_ENST00000367177.3_Missense_Mutation_p.P629L			O75325	LRRN2_HUMAN	leucine rich repeat neuronal 2	629					cell adhesion	integral to membrane	receptor activity			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|liver(1)|lung(22)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)			AATGAGCCCAGGACGGTCCCC	0.627													6	33					0	0	0.217242	0	0	A	204587235	G	A	204587235	3	1	158	1	0	0	0	0	1	0	0	0	9080	1000	35	2	259	2	LRRN2	1	204587235	Missense_Mutation	SNP	G	TCGA-E1-5307-01A-01D-1893-08	84904019	204587235	44663386	6	22962											
PM20D1	148811	broad.mit.edu	37	1	205819185	205819185	+	Missense_Mutation	SNP	C	C	A			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr1:205819185C>A	ENST00000367136.4	-	1	60	c.16G>T	c.(16-18)Gtt>Ttt	p.V6F	PM20D1_ENST00000460624.1_5'UTR	NM_152491.4	NP_689704.4	Q6GTS8	P20D1_HUMAN	peptidase M20 domain containing 1	6						extracellular region	metal ion binding|peptidase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)	28	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0252)			AGCACGCAAACGCACCGCTGA	0.602													11	41					0.00136819	0.00139241	0.411799	1	0	A	205819185	C	A	205819185	3	1	158	1	0	0	0	0	1	0	0	0	12176	536	19	5	1544	5	PM20D1	1	205819185	Missense_Mutation	SNP	C	TCGA-E1-5307-01A-01D-1893-08	1231950	205819185	43431436	7	22963											
OR13G1	441933	broad.mit.edu	37	1	247835572	247835572	+	Missense_Mutation	SNP	G	G	T	rs117404602	by1000genomes	TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr1:247835572G>T	ENST00000359688.2	-	1	793	c.772C>A	c.(772-774)Cgc>Agc	p.R258S	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005487.1	NP_001005487.1	Q8NGZ3	O13G1_HUMAN	olfactory receptor, family 13, subfamily G, member 1	258					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(28)|skin(2)	35	all_cancers(71;3.24e-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)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			GAAGCAGGGCGGATATAGGTG	0.463													43	49					4.44401e-20	4.68864e-20	0.853193	1	0	T	247835572	G	T	247835572	3	4	158	1	0	0	0	0	1	0	0	0	10990	1116	39	5	155	5	OR13G1	1	247835572	Missense_Mutation	SNP	G	TCGA-E1-5307-01A-01D-1893-08	42016387	247835572	1415049	8	22964											
TMEM131	23505	broad.mit.edu	37	2	98388789	98388789	+	Silent	SNP	C	C	T			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr2:98388789C>T	ENST00000186436.5	-	33	4647	c.4419G>A	c.(4417-4419)aaG>aaA	p.K1473K		NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131	1473	Lys-rich.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						GGATTTCTTTCTTAATATTTA	0.363													5	146					0	0	0.184627	0	0	T	98388789	C	T	98388789	2	4	158	1	0	0	0	0	0	0	0	1	16104	912	32	2		2	TMEM131	2	98388789	Silent	SNP	C	TCGA-E1-5307-01A-01D-1893-08		98388789	144810584	9	22965											
CNGA3	1261	broad.mit.edu	37	2	99006190	99006190	+	Silent	SNP	C	C	T			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr2:99006190C>T	ENST00000393504.1	+	6	936	c.519C>T	c.(517-519)acC>acT	p.T173T	CNGA3_ENST00000272602.2_Silent_p.T173T|CNGA3_ENST00000409937.1_Silent_p.T177T|CNGA3_ENST00000436404.2_Silent_p.T155T	NM_001298.2	NP_001289.1	Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3	173					signal transduction|visual perception	integral to membrane	cGMP binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						GCTGGCTGACCGCCATCGCCC	0.557													15	116					0	0	0.500413	0	0	T	99006190	C	T	99006190	2	4	158	1	0	0	0	0	0	0	0	1	3621	639	23	1		1	CNGA3	2	99006190	Silent	SNP	C	TCGA-E1-5307-01A-01D-1893-08	617401	99006190	144193183	10	22966											
IL1B	3553	broad.mit.edu	37	2	113591147	113591147	+	Silent	SNP	G	G	A			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr2:113591147G>A	ENST00000263341.2	-	4	315	c.105C>T	c.(103-105)tcC>tcT	p.S35S	IL1B_ENST00000491056.1_5'UTR	NM_000576.2	NP_000567.1	P01584	IL1B_HUMAN	interleukin 1, beta	35					activation of MAPK activity|anti-apoptosis|apoptosis|cell-cell signaling|cellular response to drug|cellular response to mechanical stimulus|cytokine-mediated signaling pathway|embryo implantation|fever generation|negative regulation of adiponectin secretion|negative regulation of cell proliferation|negative regulation of glucose transport|negative regulation of insulin receptor signaling pathway|negative regulation of lipid catabolic process|negative regulation of MAP kinase activity|positive regulation of angiogenesis|positive regulation of calcidiol 1-monooxygenase activity|positive regulation of cell adhesion molecule production|positive regulation of cell division|positive regulation of fever generation|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of heterotypic cell-cell adhesion|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of interferon-gamma production|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of lipid catabolic process|positive regulation of membrane protein ectodomain proteolysis|positive regulation of mitosis|positive regulation of monocyte chemotactic protein-1 production|positive regulation of myosin light chain kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric oxide biosynthetic process|positive regulation of prostaglandin secretion|positive regulation of protein export from nucleus|positive regulation of T cell proliferation|positive regulation vascular endothelial growth factor production|regulation of insulin secretion|sequestering of triglyceride|smooth muscle adaptation	cytosol|extracellular space	cytokine activity|growth factor activity|interleukin-1 receptor binding|protein domain specific binding			breast(2)|central_nervous_system(1)|large_intestine(1)|lung(8)	12					Anakinra(DB00026)|Minocycline(DB01017)|Procaterol(DB01366)	GGTCCTGGAAGGAGCACTGCG	0.597													24	79					0	0	0.639603	0	0	A	113591147	G	A	113591147	2	1	158	1	0	0	0	0	0	0	0	1	7695	987	35	2		2	IL1B	2	113591147	Silent	SNP	G	TCGA-E1-5307-01A-01D-1893-08	14584957	113591147	129608226	11	22967											
DPP10	57628	broad.mit.edu	37	2	116538514	116538514	+	Missense_Mutation	SNP	A	A	G			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr2:116538514A>G	ENST00000410059.1	+	16	1906	c.1426A>G	c.(1426-1428)Aca>Gca	p.T476A	DPP10_ENST00000310323.8_Missense_Mutation_p.T469A|DPP10_ENST00000409163.1_Missense_Mutation_p.T426A|DPP10_ENST00000393147.2_Missense_Mutation_p.T480A	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	476					proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						AGAACAATGTACATATTTTGA	0.284													32	57					0	0	0.760397	0	0	G	116538514	A	G	116538514	3	3	158	1	0	0	0	0	1	0	0	0	4753	391	14	3	1659	3	DPP10	2	116538514	Missense_Mutation	SNP	A	TCGA-E1-5307-01A-01D-1893-08	2947367	116538514	126660859	12	22968											
CCDC93	54520	broad.mit.edu	37	2	118731539	118731539	+	Missense_Mutation	SNP	A	A	G			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr2:118731539A>G	ENST00000376300.2	-	11	970	c.833T>C	c.(832-834)aTt>aCt	p.I278T	CCDC93_ENST00000319432.5_Missense_Mutation_p.I277T|CCDC93_ENST00000460781.1_5'UTR	NM_019044.4	NP_061917.3	Q567U6	CCD93_HUMAN	coiled-coil domain containing 93	278										breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(2)	29						GAGTCCCACAATCTGGCCCAC	0.537													15	11					0	0	0.520397	0	0	G	118731539	A	G	118731539	3	3	158	1	0	0	0	0	1	0	0	0	2892	101	4	3	1118	3	CCDC93	2	118731539	Missense_Mutation	SNP	A	TCGA-E1-5307-01A-01D-1893-08	2193025	118731539	124467834	13	22969											
NEB	4703	broad.mit.edu	37	2	152374910	152374910	+	Missense_Mutation	SNP	C	C	G			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr2:152374910C>G	ENST00000427231.2	-	156	22924	c.22722G>C	c.(22720-22722)aaG>aaC	p.K7574N	NEB_ENST00000397345.3_Missense_Mutation_p.K7574N|NEB_ENST00000603639.1_Missense_Mutation_p.K7574N|NEB_ENST00000409198.1_Missense_Mutation_p.K5873N|NEB_ENST00000172853.10_Missense_Mutation_p.K5873N|NEB_ENST00000604864.1_Missense_Mutation_p.K7574N	NM_001164507.1|NM_001271208.1	NP_001157979|NP_001258137.1	P20929	NEBU_HUMAN	nebulin	5873					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GGCCTTTACTCTTCTCATACT	0.433													9	311					0	0	0.361761	0	0	G	152374910	C	G	152374910	3	3	158	1	0	0	0	0	1	0	0	0	10349	912	32	4	2963	4	NEB	2	152374910	Missense_Mutation	SNP	C	TCGA-E1-5307-01A-01D-1893-08	33643371	152374910	90824463	14	22970											
NEB	4703	broad.mit.edu	37	2	152376199	152376199	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr2:152376199C>T	ENST00000427231.2	-	154	22765	c.22563G>A	c.(22561-22563)atG>atA	p.M7521I	NEB_ENST00000397345.3_Missense_Mutation_p.M7521I|NEB_ENST00000603639.1_Missense_Mutation_p.M7521I|NEB_ENST00000409198.1_Missense_Mutation_p.M5820I|NEB_ENST00000172853.10_Missense_Mutation_p.M5820I|NEB_ENST00000604864.1_Missense_Mutation_p.M7521I	NM_001164507.1|NM_001271208.1	NP_001157979|NP_001258137.1	P20929	NEBU_HUMAN	nebulin	5820					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TAGCATCTTTCATGACTTTGT	0.323													10	118					0	0	0.435327	0	0	T	152376199	C	T	152376199	3	4	158	1	0	0	0	0	1	0	0	0	10349	826	29	2	3130	2	NEB	2	152376199	Missense_Mutation	SNP	C	TCGA-E1-5307-01A-01D-1893-08	1289	152376199	90823174	15	22971											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								22	63					0	0	0.681144	0	0	T	209113112	C	T	209113112	3	4	158	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-E1-5307-01A-01D-1893-08	56736913	209113112	34086261	16	22972											
SETMAR	6419	broad.mit.edu	37	3	4354791	4354791	+	Silent	SNP	C	C	T			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr3:4354791C>T	ENST00000358065.4	+	2	433	c.366C>T	c.(364-366)tgC>tgT	p.C122C	SETMAR_ENST00000430981.1_Silent_p.C122C|SETMAR_ENST00000425863.1_Silent_p.C122C|SUMF1_ENST00000534863.1_Intron	NM_006515.3	NP_006506.3	Q53H47	SETMR_HUMAN	SET domain and mariner transposase fusion gene	109	Histone-lysine N-methyltransferase.|Pre-SET.				DNA integration|DNA repair|transposition, DNA-mediated	chromosome|nucleus	DNA binding|endonuclease activity|histone-lysine N-methyltransferase activity|transposase activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)	9		Melanoma(143;0.0657)		Epithelial(13;0.0025)|OV - Ovarian serous cystadenocarcinoma(96;0.011)|all cancers(10;0.0114)		ATGTCCTGTGCCGATGCAGTG	0.468								Chromatin Structure					3	42					0	0	0.115264	0	0	T	4354791	C	T	4354791	2	4	158	1	0	0	0	0	0	0	0	1	14194	747	26	2		2	SETMAR	3	4354791	Silent	SNP	C	TCGA-E1-5307-01A-01D-1893-08		4354791	193667639	17	22973											
PBRM1	55193	broad.mit.edu	37	3	52595944	52595944	+	Frame_Shift_Del	DEL	C	C	-			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr3:52595944delC	ENST00000356770.4	-	24	4033	c.4031delG	c.(4030-4032)ggcfs	p.G1344fs	PBRM1_ENST00000394830.3_Frame_Shift_Del_p.G1324fs|PBRM1_ENST00000409767.1_Frame_Shift_Del_p.G1391fs|PBRM1_ENST00000337303.4_Frame_Shift_Del_p.G1376fs|PBRM1_ENST00000409114.3_Frame_Shift_Del_p.G1391fs|PBRM1_ENST00000409057.1_Frame_Shift_Del_p.G1376fs|PBRM1_ENST00000296302.7_Frame_Shift_Del_p.G1376fs|PBRM1_ENST00000410007.1_Frame_Shift_Del_p.G1351fs|SMIM4_ENST00000476842.1_Intron			Q86U86	PB1_HUMAN	polybromo 1	1376					chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		CCGTTTGGAGCCTTCCTTCTT	0.463			"Mis, N, F, S, D, O"		"clear cell renal carcinoma, breast"								82	100	---	---	---	---						-	52595944	C	-	52595944	7	5	158	1	0	1	0	1	0	0	0	0	11538	739	26	0	797	0	PBRM1	3	52595944	Frame_Shift_Del	DEL	C	TCGA-E1-5307-01A-01D-1893-08	48241153	52595944	145426486	18	22974											
OR5H2	79310	broad.mit.edu	37	3	98002530	98002530	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr3:98002530C>T	ENST00000355273.2	+	1	799	c.799C>T	c.(799-801)Cct>Tct	p.P267S	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005482.1	NP_001005482.1	Q8NGV7	OR5H2_HUMAN	olfactory receptor, family 5, subfamily H, member 2	267					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(5)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	24						GTATTTGCGCCCTGCATCTCC	0.398													11	80					0	0	0.411799	0	0	T	98002530	C	T	98002530	3	4	158	1	0	0	0	0	1	0	0	0	11209	623	22	2	801	2	OR5H2	3	98002530	Missense_Mutation	SNP	C	TCGA-E1-5307-01A-01D-1893-08	45406586	98002530	100019900	19	22975											
TMCC1	23023	broad.mit.edu	37	3	129389499	129389499	+	Silent	SNP	T	T	C			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr3:129389499T>C	ENST00000393238.3	-	4	1525	c.1185A>G	c.(1183-1185)gaA>gaG	p.E395E	TMCC1_ENST00000329333.5_Silent_p.E216E|TMCC1_ENST00000426664.2_Silent_p.E281E|TMCC1_ENST00000432054.2_Silent_p.E71E	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN	transmembrane and coiled-coil domain family 1	395						integral to membrane			PLXND1/TMCC1(4)	breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						CCACTTGCCCTTCCTCTAAAG	0.478													9	98					0	0	0.361761	0	0	C	129389499	T	C	129389499	2	2	158	1	0	0	0	0	0	0	0	1	16052	1606	56	3		3	TMCC1	3	129389499	Silent	SNP	T	TCGA-E1-5307-01A-01D-1893-08	31386969	129389499	68632931	20	22976											
RNF168	165918	broad.mit.edu	37	3	196229803	196229803	+	Missense_Mutation	SNP	T	T	C			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr3:196229803T>C	ENST00000318037.3	-	1	836	c.242A>G	c.(241-243)cAa>cGa	p.Q81R		NM_152617.3	NP_689830.2	Q8IYW5	RN168_HUMAN	ring finger protein 168, E3 ubiquitin protein ligase	81					double-strand break repair|histone H2A K63-linked ubiquitination|positive regulation of DNA repair|response to ionizing radiation	nucleus|ubiquitin ligase complex	chromatin binding|histone binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)	20	all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;5.25e-24)|all cancers(36;5.47e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00348)		ATAGTGTTTTTGAATTATCGT	0.512													32	57					0	0	0.769981	0	0	C	196229803	T	C	196229803	3	2	158	1	0	0	0	0	1	0	0	0	13511	1812	63	3	1497	3	RNF168	3	196229803	Missense_Mutation	SNP	T	TCGA-E1-5307-01A-01D-1893-08	66840304	196229803	1792627	21	22977											
PDHA2	5161	broad.mit.edu	37	4	96762461	96762461	+	Missense_Mutation	SNP	T	T	C			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr4:96762461T>C	ENST00000295266.4	+	1	1223	c.1160T>C	c.(1159-1161)gTc>gCc	p.V387A		NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 2	387					glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	NADH(DB00157)	TTTAAGTCCGTCAGTTAAAGG	0.398													44	63					0	0	0.870114	0	0	C	96762461	T	C	96762461	3	2	158	1	0	0	0	0	1	0	0	0	11712	1667	58	3	1162	3	PDHA2	4	96762461	Missense_Mutation	SNP	T	TCGA-E1-5307-01A-01D-1893-08		96762461	94391815	22	22978											
EGF	1950	broad.mit.edu	37	4	110895897	110895897	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr4:110895897G>A	ENST00000265171.5	+	12	2208	c.1763G>A	c.(1762-1764)cGt>cAt	p.R588H	EGF_ENST00000509793.1_Missense_Mutation_p.R546H|EGF_ENST00000503392.1_Missense_Mutation_p.R588H	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN	epidermal growth factor	588					angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity			breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sulindac(DB00605)	AATGGGAAACGTTCCAAAATA	0.353													12	34					0	0	0.520397	0	0	A	110895897	G	A	110895897	3	1	158	1	0	0	0	0	1	0	0	0	4988	1145	40	1	1809	1	EGF	4	110895897	Missense_Mutation	SNP	G	TCGA-E1-5307-01A-01D-1893-08	14133436	110895897	80258379	23	22979											
MYO10	4651	broad.mit.edu	37	5	16694556	16694556	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr5:16694556G>A	ENST00000513610.1	-	27	4178	c.3724C>T	c.(3724-3726)Cgc>Tgc	p.R1242C	MYO10_ENST00000274203.9_Missense_Mutation_p.R599C|MYO10_ENST00000505695.1_Missense_Mutation_p.R581C|MYO10_ENST00000515803.1_Missense_Mutation_p.R581C|MYO10_ENST00000427430.2_Missense_Mutation_p.R599C	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	1242	PH 1.				axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						TTGGACTGGCGGAGGACAAAC	0.567													4	221					0	0	0.150653	0	0	A	16694556	G	A	16694556	3	1	158	1	0	0	0	0	1	0	0	0	10110	1116	39	1	2512	1	MYO10	5	16694556	Missense_Mutation	SNP	G	TCGA-E1-5307-01A-01D-1893-08		16694556	164220704	24	22980											
IL6ST	3572	broad.mit.edu	37	5	55250757	55250757	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr5:55250757G>A	ENST00000381298.2	-	11	1643	c.1331C>T	c.(1330-1332)aCt>aTt	p.T444I	IL6ST_ENST00000381294.3_Intron|IL6ST_ENST00000522633.2_3'UTR|IL6ST_ENST00000336909.5_Missense_Mutation_p.T444I|IL6ST_ENST00000536319.1_Intron|IL6ST_ENST00000381286.3_Intron|IL6ST_ENST00000381293.2_Intron|IL6ST_ENST00000502326.3_Missense_Mutation_p.T444I|IL6ST_ENST00000381287.4_3'UTR	NM_001190981.1|NM_002184.3|NM_175767.2	NP_001177910.1|NP_002175.2|NP_786943.1	P40189	IL6RB_HUMAN	interleukin 6 signal transducer (gp130, oncostatin M receptor)	444	Fibronectin type-III 4.				interleukin-6-mediated signaling pathway|leukemia inhibitory factor signaling pathway|negative regulation of interleukin-6-mediated signaling pathway|positive regulation of anti-apoptosis|positive regulation of cardiac muscle hypertrophy|positive regulation of osteoblast differentiation|positive regulation of T cell proliferation|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation vascular endothelial growth factor production	ciliary neurotrophic factor receptor complex|extracellular region|extracellular space|interleukin-6 receptor complex|oncostatin-M receptor complex	ciliary neurotrophic factor receptor activity|ciliary neurotrophic factor receptor binding|growth factor binding|protein homodimerization activity			breast(2)|endometrium(5)|kidney(5)|large_intestine(4)|liver(2)|lung(1)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223)				CCTTGGAGTAGTCCATTCCAC	0.368			O		hepatocellular ca								9	216					0	0	0.361761	0	0	A	55250757	G	A	55250757	3	1	158	1	0	0	0	0	1	0	0	0	7747	1029	36	2	1453	2	IL6ST	5	55250757	Missense_Mutation	SNP	G	TCGA-E1-5307-01A-01D-1893-08	38556201	55250757	125664503	25	22981											
RASA1	5921	broad.mit.edu	37	5	86627234	86627238	+	Frame_Shift_Del	DEL	TTATC	TTATC	-			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr5:86627234_86627238delTTATC	ENST00000456692.2	+	2	193_197	c.78_82delTTATC	c.(76-84)agttatcttfs	p.YL27fs	RASA1_ENST00000274376.6_Frame_Shift_Del_p.YL204fs|RASA1_ENST00000506290.1_Frame_Shift_Del_p.YL38fs|RASA1_ENST00000512763.1_Frame_Shift_Del_p.YL37fs	NM_022650.2	NP_072179.1	P20936	RASA1_HUMAN	RAS p21 protein activator (GTPase activating protein) 1	204					cytokinesis|embryo development|intracellular signal transduction|negative regulation of cell-matrix adhesion|negative regulation of neuron apoptosis|negative regulation of Ras protein signal transduction|positive regulation of anti-apoptosis|regulation of actin filament polymerization|regulation of cell shape|regulation of RNA metabolic process|vasculogenesis	cytosol|intrinsic to internal side of plasma membrane	glycoprotein binding|GTPase binding|potassium channel inhibitor activity|Ras GTPase activator activity|receptor binding			NS(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(12)|lung(13)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	48		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)		AGTCTGGCAGTTATCTTATAAGAGA	0.415													14	69	---	---	---	---						-	86627238	TTATC	-	86627234	7	5	158	1	0	1	0	1	0	0	0	0	13112	1722	60	0	627	0	RASA1	5	86627234	Frame_Shift_Del	DEL	TTATC	TCGA-E1-5307-01A-01D-1893-08	31376477	86627234	94288026	26	22982											
PCDHGB4	8641	broad.mit.edu	37	5	140769361	140769361	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr5:140769361G>A	ENST00000519479.1	+	1	1910	c.1910G>A	c.(1909-1911)cGc>cAc	p.R637H	PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA7_ENST00000518325.1_Intron	NM_003736.2|NM_018925.2|NM_032098.1	NP_003727.1|NP_061748.1|NP_115269.1														endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2)	37			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACGCCGTCCGCCAGCGCCTT	0.692													19	46					0	0	0.575678	0	0	A	140769361	G	A	140769361	3	1	158	1	0	0	0	0	1	0	0	0	11612	1087	38	1	1912	1	PCDHGB4	5	140769361	Missense_Mutation	SNP	G	TCGA-E1-5307-01A-01D-1893-08	54142127	140769361	40145899	27	22983											
WRNIP1	56897	broad.mit.edu	37	6	2770460	2770463	+	Frame_Shift_Del	DEL	TGAT	TGAT	-	rs144020288		TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr6:2770460_2770463delTGAT	ENST00000380769.4	+	3	692_695	c.461_464delTGAT	c.(460-465)gtgattfs	p.VI154fs	WRNIP1_ENST00000380773.4_Frame_Shift_Del_p.VI374fs|WRNIP1_ENST00000380771.4_Frame_Shift_Del_p.VI349fs|WRNIP1_ENST00000380764.1_5'UTR			Q96S55	WRIP1_HUMAN	Werner helicase interacting protein 1	374					DNA replication|DNA synthesis involved in DNA repair|regulation of DNA-dependent DNA replication initiation	mitochondrion|nucleus|perinuclear region of cytoplasm	ATP binding|ATPase activity|DNA binding|metal ion binding|protein binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	14	Ovarian(93;0.0412)	all_hematologic(90;0.0895)				CGCTGTCGAGTGATTGTTCTTGAG	0.52													7	173	---	---	---	---						-	2770463	TGAT	-	2770460	7	5	158	1	0	1	0	1	0	0	0	0	17463	1696	59	0	1131	0	WRNIP1	6	2770460	Frame_Shift_Del	DEL	TGAT	TCGA-E1-5307-01A-01D-1893-08		2770460	168344607	28	22984											
DHX16	8449	broad.mit.edu	37	6	30632747	30632747	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr6:30632747G>A	ENST00000376442.3	-	7	1343	c.1148C>T	c.(1147-1149)tCa>tTa	p.S383L		NM_001164239.1|NM_003587.4	NP_001157711.1|NP_003578.2	O60231	DHX16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 16	383					mRNA processing|RNA splicing	nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity			kidney(2)|ovary(2)	4						GGCCTGAGTTGAAGTGGGTGG	0.567													6	55					0	0	0.217242	0	0	A	30632747	G	A	30632747	3	1	158	1	0	0	0	0	1	0	0	0	4530	1294	45	2	2033	2	DHX16	6	30632747	Missense_Mutation	SNP	G	TCGA-E1-5307-01A-01D-1893-08	27862287	30632747	140482320	29	22985											
TRERF1	55809	broad.mit.edu	37	6	42196333	42196333	+	Frame_Shift_Del	DEL	T	T	-			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr6:42196333delT	ENST00000541110.1	-	18	3981	c.3413delA	c.(3412-3414)aagfs	p.K1138fs	TRERF1_ENST00000372917.4_Frame_Shift_Del_p.K1047fs|TRERF1_ENST00000354325.2_Frame_Shift_Del_p.K1035fs|TRERF1_ENST00000340840.2_Frame_Shift_Del_p.K1047fs|TRERF1_ENST00000372922.4_Frame_Shift_Del_p.K1118fs			Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	1118	Interacts with CREBBP.				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CTTCTGAGCCTTTTGCCTCTG	0.542													7	801	---	---	---	---						-	42196333	T	-	42196333	7	5	158	1	0	1	0	1	0	0	0	0	16536	1609	56	0	253	0	TRERF1	6	42196333	Frame_Shift_Del	DEL	T	TCGA-E1-5307-01A-01D-1893-08	11563586	42196333	128918734	30	22986											
MEP1A	4224	broad.mit.edu	37	6	46803179	46803179	+	Silent	SNP	C	C	T			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr6:46803179C>T	ENST00000230588.4	+	13	1986	c.1977C>T	c.(1975-1977)ggC>ggT	p.G659G		NM_005588.2	NP_005579.2	Q16819	MEP1A_HUMAN	meprin A, alpha (PABA peptide hydrolase)	659					digestion|proteolysis	extracellular space|integral to plasma membrane|soluble fraction	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42			Lung(136;0.192)			AGAACACAGGCCCCCTGGAGG	0.587													3	21					0	0	0.115264	0	0	T	46803179	C	T	46803179	2	4	158	1	0	0	0	0	0	0	0	1	9525	726	26	2		2	MEP1A	6	46803179	Silent	SNP	C	TCGA-E1-5307-01A-01D-1893-08	4606846	46803179	124311888	31	22987											
SDK1	221935	broad.mit.edu	37	7	4026875	4026875	+	Silent	SNP	C	C	T			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr7:4026875C>T	ENST00000404826.2	+	14	2191	c.2052C>T	c.(2050-2052)caC>caT	p.H684H	SDK1_ENST00000389531.3_Silent_p.H684H	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	684	Fibronectin type-III 1.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CCCACAGCCACGCCGTGGTGC	0.458													19	157					0	0	0.592651	0	0	T	4026875	C	T	4026875	2	4	158	1	0	0	0	0	0	0	0	1	14022	535	19	1		1	SDK1	7	4026875	Silent	SNP	C	TCGA-E1-5307-01A-01D-1893-08		4026875	155111788	32	22988											
CDHR3	222256	broad.mit.edu	37	7	105669001	105669001	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr7:105669001G>A	ENST00000343407.5	+	15	1741	c.784G>A	c.(784-786)Gaa>Aaa	p.E262K	CDHR3_ENST00000470188.1_3'UTR|CDHR3_ENST00000478080.1_Silent_p.T671T|CDHR3_ENST00000542731.1_Silent_p.T759T|CDHR3_ENST00000317716.9_Silent_p.T759T			Q6ZTQ4	CDHR3_HUMAN	cadherin-related family member 3	0	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)|cervix(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)	23						CTGCAGAAACGAAGACTGCAG	0.537													19	32					0	0	0.624587	0	0	A	105669001	G	A	105669001	3	1	158	1	0	0	0	0	1	0	0	0	3142	1045	37	1	2343	1	CDHR3	7	105669001	Missense_Mutation	SNP	G	TCGA-E1-5307-01A-01D-1893-08	101642126	105669001	53469662	33	22989											
FLNC	2318	broad.mit.edu	37	7	128488741	128488741	+	Silent	SNP	G	G	A			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr7:128488741G>A	ENST00000325888.8	+	27	4968	c.4707G>A	c.(4705-4707)gcG>gcA	p.A1569A	FLNC_ENST00000346177.6_Silent_p.A1569A	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	1569					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						CACGGGACGCGGGCGAGGGGT	0.657													4	184					0	0	0.150653	0	0	A	128488741	G	A	128488741	2	1	158	1	0	0	0	0	0	0	0	1	5968	1103	39	1		1	FLNC	7	128488741	Silent	SNP	G	TCGA-E1-5307-01A-01D-1893-08	22819740	128488741	30649922	34	22990											
ZC3HAV1L	92092	broad.mit.edu	37	7	138711561	138711561	+	Missense_Mutation	SNP	G	G	C			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr7:138711561G>C	ENST00000275766.1	-	4	790	c.779C>G	c.(778-780)aCt>aGt	p.T260S		NM_080660.3	NP_542391.2	Q96H79	ZCCHL_HUMAN	zinc finger CCCH-type, antiviral 1-like	260										NS(2)|endometrium(2)|large_intestine(1)|lung(4)|skin(1)	10						TGAATGCTCAGTCGAAGGTGA	0.517													9	49					0	0	0.307466	0	0	C	138711561	G	C	138711561	3	2	158	1	0	0	0	0	1	0	0	0	17635	1029	36	4	131	4	ZC3HAV1L	7	138711561	Missense_Mutation	SNP	G	TCGA-E1-5307-01A-01D-1893-08	10222820	138711561	20427102	35	22991											
DLC1	10395	broad.mit.edu	37	8	12946019	12946019	+	Silent	SNP	A	A	C			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr8:12946019A>C	ENST00000276297.4	-	16	4678	c.4269T>G	c.(4267-4269)ccT>ccG	p.P1423P	DLC1_ENST00000510318.1_5'UTR|DLC1_ENST00000520226.1_Silent_p.P912P|DLC1_ENST00000512044.2_Silent_p.P1020P|DLC1_ENST00000358919.2_Silent_p.P986P	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1	1423	START.				actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						AGTCTCGAGCAGGATGAGGTG	0.423													18	93					0	0	0.539581	0	0	C	12946019	A	C	12946019	2	2	158	1	0	0	0	0	0	0	0	1	4578	175	7	5		5	DLC1	8	12946019	Silent	SNP	A	TCGA-E1-5307-01A-01D-1893-08		12946019	133418003	36	22992											
MTUS1	57509	broad.mit.edu	37	8	17581236	17581236	+	Silent	SNP	T	T	G			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr8:17581236T>G	ENST00000262102.6	-	4	2618	c.2394A>C	c.(2392-2394)ggA>ggC	p.G798G	MTUS1_ENST00000381869.3_Intron|MTUS1_ENST00000519263.1_Intron	NM_001001924.2	NP_001001924.1	Q9ULD2	MTUS1_HUMAN	microtubule associated tumor suppressor 1	798						Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36				Colorectal(111;0.0778)		AGGGGGTGCTTCCTGTCCTCC	0.483													14	112					0	0	0.435327	0	0	G	17581236	T	G	17581236	2	3	158	1	0	0	0	0	0	0	0	1	10013	1770	62	5		5	MTUS1	8	17581236	Silent	SNP	T	TCGA-E1-5307-01A-01D-1893-08	4635217	17581236	128782786	37	22993											
PSD3	23362	broad.mit.edu	37	8	18393458	18393458	+	Missense_Mutation	SNP	T	T	C			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr8:18393458T>C	ENST00000440756.2	-	16	3047	c.2945A>G	c.(2944-2946)tAt>tGt	p.Y982C	PSD3_ENST00000286485.8_Missense_Mutation_p.Y446C|PSD3_ENST00000428502.2_Missense_Mutation_p.Y309C|PSD3_ENST00000327040.8_Missense_Mutation_p.Y980C|PSD3_ENST00000523619.1_Missense_Mutation_p.Y915C			Q9NYI0	PSD3_HUMAN	pleckstrin and Sec7 domain containing 3	981					regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		ATACATTTCATAGCGGGTTTT	0.483													13	86					0	0	0.435327	0	0	C	18393458	T	C	18393458	3	2	158	1	0	0	0	0	1	0	0	0	12697	1406	49	3	208	3	PSD3	8	18393458	Missense_Mutation	SNP	T	TCGA-E1-5307-01A-01D-1893-08	812222	18393458	127970564	38	22994											
UNC5D	137970	broad.mit.edu	37	8	35406823	35406823	+	Silent	SNP	C	C	T			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr8:35406823C>T	ENST00000287272.2	+	2	137	c.117C>T	c.(115-117)ggC>ggT	p.G39G	UNC5D_ENST00000420357.1_Silent_p.G39G|UNC5D_ENST00000453357.2_Silent_p.G34G|UNC5D_ENST00000416672.1_Silent_p.G39G|UNC5D_ENST00000404895.2_Silent_p.G39G			Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	39					apoptosis|axon guidance	integral to membrane	receptor activity	p.G34G(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		CTGACAATGGCGAAGCCCTTC	0.468													24	47					0	0	0.667858	0	0	T	35406823	C	T	35406823	2	4	158	1	0	0	0	0	0	0	0	1	17055	755	27	1		1	UNC5D	8	35406823	Silent	SNP	C	TCGA-E1-5307-01A-01D-1893-08	17013365	35406823	110957199	39	22995											
RBM12B	389677	broad.mit.edu	37	8	94747027	94747027	+	Missense_Mutation	SNP	C	C	G			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr8:94747027C>G	ENST00000399300.2	-	3	1825	c.1612G>C	c.(1612-1614)Gat>Cat	p.D538H	RBM12B_ENST00000520961.1_Intron|RBM12B_ENST00000517700.1_Missense_Mutation_p.D538H	NM_203390.2	NP_976324.2	Q8IXT5	RB12B_HUMAN	RNA binding motif protein 12B	538							nucleotide binding|RNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			TTGAAGTTATCCAGTTGCCTC	0.493													19	122					0	0	0.557998	0	0	G	94747027	C	G	94747027	3	3	158	1	0	0	0	0	1	0	0	0	13166	855	30	5	1397	5	RBM12B	8	94747027	Missense_Mutation	SNP	C	TCGA-E1-5307-01A-01D-1893-08	59340204	94747027	51616995	40	22996			1	15		10	10	1105	C		1.171595e-28
RBM12B	389677	broad.mit.edu	37	8	94747221	94747221	+	Missense_Mutation	SNP	C	C	G			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr8:94747221C>G	ENST00000399300.2	-	3	1631	c.1418G>C	c.(1417-1419)aGa>aCa	p.R473T	RBM12B_ENST00000520961.1_Intron|RBM12B_ENST00000517700.1_Missense_Mutation_p.R473T	NM_203390.2	NP_976324.2	Q8IXT5	RB12B_HUMAN	RNA binding motif protein 12B	473	RRM 3.						nucleotide binding|RNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			AGATATAAGTCTTAATAACAC	0.423													35	211					0	0	0.796494	0	0	G	94747221	C	G	94747221	3	3	158	1	0	0	0	0	1	0	0	0	13166	913	32	4	1591	4	RBM12B	8	94747221	Missense_Mutation	SNP	C	TCGA-E1-5307-01A-01D-1893-08	194	94747221	51616801	41	22997			1	15		10	10	1105	C		1.171595e-28
RBM12B	389677	broad.mit.edu	37	8	94747336	94747336	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr8:94747336C>T	ENST00000399300.2	-	3	1516	c.1303G>A	c.(1303-1305)Gat>Aat	p.D435N	RBM12B_ENST00000520961.1_Intron|RBM12B_ENST00000517700.1_Missense_Mutation_p.D435N	NM_203390.2	NP_976324.2	Q8IXT5	RB12B_HUMAN	RNA binding motif protein 12B	435	RRM 3.						nucleotide binding|RNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			CCTTTGTCATCATAAAGCAAG	0.373													32	165					0	0	0.750413	0	0	T	94747336	C	T	94747336	3	4	158	1	0	0	0	0	1	0	0	0	13166	826	29	2	1706	2	RBM12B	8	94747336	Missense_Mutation	SNP	C	TCGA-E1-5307-01A-01D-1893-08	115	94747336	51616686	42	22998			1	15		10	10	1105	C		1.171595e-28
RBM12B	389677	broad.mit.edu	37	8	94747712	94747712	+	Silent	SNP	C	C	G			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr8:94747712C>G	ENST00000399300.2	-	3	1140	c.927G>C	c.(925-927)ctG>ctC	p.L309L	RBM12B_ENST00000520961.1_Intron|RBM12B_ENST00000517700.1_Silent_p.L309L	NM_203390.2	NP_976324.2	Q8IXT5	RB12B_HUMAN	RNA binding motif protein 12B	309	RRM 2.						nucleotide binding|RNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			GTTCATCAGTCAGATCAGTAC	0.343													12	67					0	0	0.38729	0	0	G	94747712	C	G	94747712	2	3	158	1	0	0	0	0	0	0	0	1	13166	813	29	5		5	RBM12B	8	94747712	Silent	SNP	C	TCGA-E1-5307-01A-01D-1893-08	376	94747712	51616310	43	22999			1	15		10	10	1105	C		1.171595e-28
RBM12B	389677	broad.mit.edu	37	8	94747854	94747854	+	Missense_Mutation	SNP	C	C	G			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr8:94747854C>G	ENST00000399300.2	-	3	998	c.785G>C	c.(784-786)aGa>aCa	p.R262T	RBM12B_ENST00000520961.1_Intron|RBM12B_ENST00000517700.1_Missense_Mutation_p.R262T	NM_203390.2	NP_976324.2	Q8IXT5	RB12B_HUMAN	RNA binding motif protein 12B	262							nucleotide binding|RNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			TCGAAAATGTCTATCATTAAT	0.398													12	105					0	0	0.38729	0	0	G	94747854	C	G	94747854	3	3	158	1	0	0	0	0	1	0	0	0	13166	913	32	4	2224	4	RBM12B	8	94747854	Missense_Mutation	SNP	C	TCGA-E1-5307-01A-01D-1893-08	142	94747854	51616168	44	23000			1	15		10	10	1105	C		1.171595e-28
RBM12B	389677	broad.mit.edu	37	8	94747893	94747893	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr8:94747893C>T	ENST00000399300.2	-	3	959	c.746G>A	c.(745-747)aGa>aAa	p.R249K	RBM12B_ENST00000520961.1_Intron|RBM12B_ENST00000517700.1_Missense_Mutation_p.R249K	NM_203390.2	NP_976324.2	Q8IXT5	RB12B_HUMAN	RNA binding motif protein 12B	249							nucleotide binding|RNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			TTCTTCAGATCTCCTAAGAAC	0.398													11	134					0	0	0.457914	0	0	T	94747893	C	T	94747893	3	4	158	1	0	0	0	0	1	0	0	0	13166	913	32	2	2263	2	RBM12B	8	94747893	Missense_Mutation	SNP	C	TCGA-E1-5307-01A-01D-1893-08	39	94747893	51616129	45	23001			1	15		10	10	1105	C		1.171595e-28
RBM12B	389677	broad.mit.edu	37	8	94747940	94747940	+	Missense_Mutation	SNP	C	C	A			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr8:94747940C>A	ENST00000399300.2	-	3	912	c.699G>T	c.(697-699)tgG>tgT	p.W233C	RBM12B_ENST00000520961.1_Intron|RBM12B_ENST00000517700.1_Missense_Mutation_p.W233C	NM_203390.2	NP_976324.2	Q8IXT5	RB12B_HUMAN	RNA binding motif protein 12B	233							nucleotide binding|RNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			CAAACTCAATCCACTGTTGTT	0.373													21	133					6.44725e-10	6.74031e-10	0.624587	1	0	A	94747940	C	A	94747940	3	1	158	1	0	0	0	0	1	0	0	0	13166	856	30	5	2310	5	RBM12B	8	94747940	Missense_Mutation	SNP	C	TCGA-E1-5307-01A-01D-1893-08	47	94747940	51616082	46	23002			1	15		10	10	1105	C		1.171595e-28
RBM12B	389677	broad.mit.edu	37	8	94747956	94747956	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr8:94747956C>T	ENST00000399300.2	-	3	896	c.683G>A	c.(682-684)gGa>gAa	p.G228E	RBM12B_ENST00000520961.1_Intron|RBM12B_ENST00000517700.1_Missense_Mutation_p.G228E	NM_203390.2	NP_976324.2	Q8IXT5	RB12B_HUMAN	RNA binding motif protein 12B	228	RRM 1.						nucleotide binding|RNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			TTGTTCTGATCCTTGCATTAC	0.383													20	147					0	0	0.608945	0	0	T	94747956	C	T	94747956	3	4	158	1	0	0	0	0	1	0	0	0	13166	855	30	2	2326	2	RBM12B	8	94747956	Missense_Mutation	SNP	C	TCGA-E1-5307-01A-01D-1893-08	16	94747956	51616066	47	23003			1	15		10	10	1105	C		1.171595e-28
RBM12B	389677	broad.mit.edu	37	8	94748053	94748053	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr8:94748053C>T	ENST00000399300.2	-	3	799	c.586G>A	c.(586-588)Gat>Aat	p.D196N	RBM12B_ENST00000520961.1_Intron|RBM12B_ENST00000517700.1_Missense_Mutation_p.D196N	NM_203390.2	NP_976324.2	Q8IXT5	RB12B_HUMAN	RNA binding motif protein 12B	196	RRM 1.						nucleotide binding|RNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			ACTATGGCATCACCATTATTT	0.363													18	136					0	0	0.557998	0	0	T	94748053	C	T	94748053	3	4	158	1	0	0	0	0	1	0	0	0	13166	826	29	2	2423	2	RBM12B	8	94748053	Missense_Mutation	SNP	C	TCGA-E1-5307-01A-01D-1893-08	97	94748053	51615969	48	23004			1	15		10	10	1105	C		1.171595e-28
RBM12B	389677	broad.mit.edu	37	8	94748131	94748131	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr8:94748131C>T	ENST00000399300.2	-	3	721	c.508G>A	c.(508-510)Gat>Aat	p.D170N	RBM12B_ENST00000520961.1_Intron|RBM12B_ENST00000517700.1_Missense_Mutation_p.D170N	NM_203390.2	NP_976324.2	Q8IXT5	RB12B_HUMAN	RNA binding motif protein 12B	170	RRM 1.						nucleotide binding|RNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			ACACGTACATCATCTTCATTT	0.393													11	74					0	0	0.38729	0	0	T	94748131	C	T	94748131	3	4	158	1	0	0	0	0	1	0	0	0	13166	826	29	2	2501	2	RBM12B	8	94748131	Missense_Mutation	SNP	C	TCGA-E1-5307-01A-01D-1893-08	78	94748131	51615891	49	23005			1	15		10	10	1105	C		1.171595e-28
DENND4C	55667	broad.mit.edu	37	9	19360274	19360274	+	Frame_Shift_Del	DEL	T	T	-			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr9:19360274delT	ENST00000380432.2	+	24	4371	c.4338delT	c.(4336-4338)cctfs	p.P1446fs	DENND4C_ENST00000602925.1_Frame_Shift_Del_p.P1682fs|DENND4C_ENST00000434457.2_Frame_Shift_Del_p.P1731fs			Q5VZ89	DEN4C_HUMAN	DENN/MADD domain containing 4C	1446						integral to membrane				breast(1)|endometrium(8)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						ATCCTCCCCCTGTTTCTGTGC	0.353													28	115	---	---	---	---						-	19360274	T	-	19360274	7	5	158	1	0	1	0	1	0	0	0	0	4463	1567	55	0	4432	0	DENND4C	9	19360274	Frame_Shift_Del	DEL	T	TCGA-E1-5307-01A-01D-1893-08		19360274	121853157	50	23006											
UNC13B	10497	broad.mit.edu	37	9	35366984	35366984	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr9:35366984C>T	ENST00000378495.3	+	11	1430	c.1208C>T	c.(1207-1209)cCg>cTg	p.P403L	UNC13B_ENST00000378496.4_Missense_Mutation_p.P403L|UNC13B_ENST00000396787.1_Missense_Mutation_p.P415L	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	unc-13 homolog B (C. elegans)	403					excretion|induction of apoptosis|intracellular signal transduction	cell junction|Golgi apparatus|synapse	metal ion binding|receptor activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			CAGTGGCTCCCGGAAGGGTAA	0.448													39	48					0	0	0.834066	0	0	T	35366984	C	T	35366984	3	4	158	1	0	0	0	0	1	0	0	0	17045	652	23	1	1250	1	UNC13B	9	35366984	Missense_Mutation	SNP	C	TCGA-E1-5307-01A-01D-1893-08	16006710	35366984	105846447	51	23007											
ROR2	4920	broad.mit.edu	37	9	94495542	94495542	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr9:94495542C>T	ENST00000375708.3	-	6	997	c.799G>A	c.(799-801)Gag>Aag	p.E267K	ROR2_ENST00000375715.1_Missense_Mutation_p.E127K|ROR2_ENST00000550066.1_5'UTR	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	267	FZ.				negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						ATGGTGTACTCCTGGCGGCAC	0.672													7	27					0	0	0.307466	0	0	T	94495542	C	T	94495542	3	4	158	1	0	0	0	0	1	0	0	0	13579	864	30	2	2048	2	ROR2	9	94495542	Missense_Mutation	SNP	C	TCGA-E1-5307-01A-01D-1893-08	59128558	94495542	46717889	52	23008											
ZNF462	58499	broad.mit.edu	37	9	109689383	109689383	+	Nonsense_Mutation	SNP	C	C	T			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr9:109689383C>T	ENST00000277225.5	+	3	3479	c.3190C>T	c.(3190-3192)Cag>Tag	p.Q1064*	ZNF462_ENST00000457913.1_Nonsense_Mutation_p.Q1064*			Q96JM2	ZN462_HUMAN	zinc finger protein 462	1064					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						CTTTAGGATCCAGAAAACTAT	0.453													12	124					0	0	0.38729	0	0	T	109689383	C	T	109689383	4	4	158	1	0	0	0	0	0	1	0	0	17983	595	21	2	3196	2	ZNF462	9	109689383	Nonsense_Mutation	SNP	C	TCGA-E1-5307-01A-01D-1893-08	15193841	109689383	31524048	53	23009											
RGS3	5998	broad.mit.edu	37	9	116358026	116358026	+	Missense_Mutation	SNP	C	C	T	rs144334750		TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr9:116358026C>T	ENST00000374140.2	+	25	3601	c.3392C>T	c.(3391-3393)gCg>gTg	p.A1131V	RGS3_ENST00000350696.5_Missense_Mutation_p.A1131V|RGS3_ENST00000374134.3_Missense_Mutation_p.A452V|RGS3_ENST00000462143.1_Missense_Mutation_p.A452V|RGS3_ENST00000394646.3_Missense_Mutation_p.A524V|RGS3_ENST00000462403.1_Missense_Mutation_p.A244V|RGS3_ENST00000343817.5_Missense_Mutation_p.A850V|RGS3_ENST00000342620.5_Missense_Mutation_p.A101V	NM_001282923.1|NM_144488.4	NP_001269852.1|NP_652759.3	P49796	RGS3_HUMAN	regulator of G-protein signaling 3	1131	RGS.				inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	cytosol|nucleus|plasma membrane	GTPase activator activity|signal transducer activity			cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						GAATACATCGCGATCCAGGCA	0.567													27	51					0	0	0.706142	0	0	T	116358026	C	T	116358026	3	4	158	1	0	0	0	0	1	0	0	0	13356	768	27	1	4162	1	RGS3	9	116358026	Missense_Mutation	SNP	C	TCGA-E1-5307-01A-01D-1893-08	6668643	116358026	24855405	54	23010											
TRIM32	22954	broad.mit.edu	37	9	119461244	119461244	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr9:119461244G>A	ENST00000450136.1	+	2	1384	c.1223G>A	c.(1222-1224)cGc>cAc	p.R408H	ASTN2_ENST00000313400.4_Intron|TRIM32_ENST00000373983.2_Missense_Mutation_p.R408H|ASTN2_ENST00000373996.3_Intron|ASTN2_ENST00000361209.2_Intron|ASTN2_ENST00000361477.3_Intron	NM_001099679.1|NM_012210.3	NP_001093149.1|NP_036342.2	Q13049	TRI32_HUMAN	tripartite motif containing 32	408			R -> C (in dbSNP:rs3747835).		fat cell differentiation|innate immune response|negative regulation of apoptosis|negative regulation of fibroblast proliferation|positive regulation of cell cycle|positive regulation of cell growth|positive regulation of cell migration|positive regulation of neurogenesis|positive regulation of neuron differentiation|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein catabolic process|positive regulation of proteolysis|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to tumor necrosis factor|response to UV	nucleus	myosin binding|protein self-association|RNA binding|Tat protein binding|transcription coactivator activity|translation initiation factor binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	26						AAGGAAATCCGCCGCAGCCCC	0.517													84	101					0	0	0.870114	0	0	A	119461244	G	A	119461244	3	1	158	1	0	0	0	0	1	0	0	0	16567	1087	38	1	1225	1	TRIM32	9	119461244	Missense_Mutation	SNP	G	TCGA-E1-5307-01A-01D-1893-08	3103218	119461244	21752187	55	23011											
ANAPC2	29882	broad.mit.edu	37	9	140079392	140079392	+	Missense_Mutation	SNP	T	T	C			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr9:140079392T>C	ENST00000323927.2	-	4	1025	c.1021A>G	c.(1021-1023)Atc>Gtc	p.I341V		NM_013366.3	NP_037498.1	Q9UJX6	ANC2_HUMAN	anaphase promoting complex subunit 2	341					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cyclin catabolic process|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of synapse maturation|positive regulation of synaptic plasticity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of cyclin-dependent protein kinase activity	anaphase-promoting complex|cytosol|nucleoplasm	ubiquitin protein ligase binding|ubiquitin-protein ligase activity			breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.000858)		AGCTCCTCGATGCGCAGGCTG	0.701													6	43					0	0	0.248553	0	0	C	140079392	T	C	140079392	3	2	158	1	0	0	0	0	1	0	0	0	599	1464	51	3	1487	3	ANAPC2	9	140079392	Missense_Mutation	SNP	T	TCGA-E1-5307-01A-01D-1893-08	20618148	140079392	1134039	56	23012											
PRF1	5551	broad.mit.edu	37	10	72358728	72358728	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr10:72358728G>A	ENST00000441259.1	-	3	909	c.749C>T	c.(748-750)aCg>aTg	p.T250M	PRF1_ENST00000373209.2_Missense_Mutation_p.T250M	NM_001083116.1|NM_005041.4	NP_001076585.1|NP_005032.2	P14222	PERF_HUMAN	perforin 1 (pore forming protein)	250	MACPF.				apoptosis|cellular defense response|cytolysis|defense response to tumor cell|defense response to virus|immune response to tumor cell|protein homooligomerization	cytolytic granule|endosome lumen|extracellular region|integral to membrane|plasma membrane	calcium ion binding|protein binding|wide pore channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(3)|urinary_tract(3)	23						CTCGTTGTCCGTGAGCCCTTC	0.637			M			"various leukaemia, lymphoma"	Type 2 familial hemophagocytic lymphohistiocytosis		Familial Hemophagocytic Lymphohistiocytosis				31	36					0	0	0.769981	0	0	A	72358728	G	A	72358728	3	1	158	1	0	0	0	0	1	0	0	0	12530	1145	40	1	922	1	PRF1	10	72358728	Missense_Mutation	SNP	G	TCGA-E1-5307-01A-01D-1893-08		72358728	63176019	57	23013											
IDE	3416	broad.mit.edu	37	10	94266256	94266256	+	Silent	SNP	C	C	T			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr10:94266256C>T	ENST00000265986.6	-	10	1325	c.1269G>A	c.(1267-1269)agG>agA	p.R423R		NM_004969.3	NP_004960.2	P14735	IDE_HUMAN	insulin-degrading enzyme	423					beta-amyloid metabolic process|bradykinin catabolic process|interspecies interaction between organisms|sex differentiation	cell surface|extracellular space|soluble fraction	ATP binding|metalloendopeptidase activity|protein homodimerization activity|signal transducer activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|urinary_tract(2)	33					Bacitracin(DB00626)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TGTCTTTAAACCTAAAAGCAA	0.343													5	115					0	0	0.217242	0	0	T	94266256	C	T	94266256	2	4	158	1	0	0	0	0	0	0	0	1	7537	506	18	2		2	IDE	10	94266256	Silent	SNP	C	TCGA-E1-5307-01A-01D-1893-08	21907528	94266256	41268491	58	23014											
BTRC	8945	broad.mit.edu	37	10	103281443	103281443	+	Silent	SNP	G	G	A			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr10:103281443G>A	ENST00000370187.3	+	5	490	c.372G>A	c.(370-372)cgG>cgA	p.R124R	BTRC_ENST00000408038.2_Silent_p.R88R|BTRC_ENST00000393441.4_Silent_p.R83R	NM_033637.3	NP_378663.1	Q9Y297	FBW1A_HUMAN	beta-transducin repeat containing E3 ubiquitin protein ligase	124					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|positive regulation of proteolysis|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|viral reproduction|Wnt receptor signaling pathway	cytosol|nucleus|SCF ubiquitin ligase complex				endometrium(4)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	27		Colorectal(252;0.234)		Epithelial(162;1.05e-08)|all cancers(201;6.59e-07)		CCAAGCAACGGAAACTCTCAG	0.388													5	64					0	0	0.217242	0	0	A	103281443	G	A	103281443	2	1	158	1	0	0	0	0	0	0	0	1	1572	1161	41	2		2	BTRC	10	103281443	Silent	SNP	G	TCGA-E1-5307-01A-01D-1893-08	9015187	103281443	32253304	59	23015											
P2RY2	5029	broad.mit.edu	37	11	72945337	72945337	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr11:72945337G>A	ENST00000311131.2	+	3	600	c.133G>A	c.(133-135)Gtg>Atg	p.V45M	P2RY2_ENST00000393597.2_Missense_Mutation_p.V45M|P2RY2_ENST00000393596.2_Missense_Mutation_p.V45M	NM_002564.2|NM_176072.1	NP_002555|NP_788086	P41231	P2RY2_HUMAN	purinergic receptor P2Y, G-protein coupled, 2	45					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25					Suramin(DB04786)	CGTGGTGTGCGTGCCTGGGCT	0.587													17	146					0	0	0.557998	0	0	A	72945337	G	A	72945337	3	1	158	1	0	0	0	0	1	0	0	0	11399	1145	40	1	135	1	P2RY2	11	72945337	Missense_Mutation	SNP	G	TCGA-E1-5307-01A-01D-1893-08		72945337	62061179	60	23016											
CEP164	22897	broad.mit.edu	37	11	117266823	117266823	+	Missense_Mutation	SNP	T	T	C			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr11:117266823T>C	ENST00000278935.3	+	25	3290	c.3143T>C	c.(3142-3144)gTt>gCt	p.V1048A	CEP164_ENST00000533706.1_3'UTR	NM_001271933.1|NM_014956.4	NP_001258862.1|NP_055771.4	Q9UPV0	CE164_HUMAN	centrosomal protein 164kDa	1048					cell division|DNA repair|G2/M transition of mitotic cell cycle|mitosis	centriole|cytosol|nucleus				breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3)	47	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)		GAAGTGACAGTTGAGGAAAAT	0.552													47	180					0	0	0.870114	0	0	C	117266823	T	C	117266823	3	2	158	1	0	0	0	0	1	0	0	0	3271	1725	60	3	3233	3	CEP164	11	117266823	Missense_Mutation	SNP	T	TCGA-E1-5307-01A-01D-1893-08	44321486	117266823	17739693	61	23017											
ITPR2	3709	broad.mit.edu	37	12	26752943	26752943	+	Missense_Mutation	SNP	G	G	C			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr12:26752943G>C	ENST00000381340.3	-	29	4194	c.3778C>G	c.(3778-3780)Ctg>Gtg	p.L1260V		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	1260					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					AACAAATTCAGATGTTTATGA	0.328													9	38					0	0	0.361761	0	0	C	26752943	G	C	26752943	3	2	158	1	0	0	0	0	1	0	0	0	7965	933	33	4	4443	4	ITPR2	12	26752943	Missense_Mutation	SNP	G	TCGA-E1-5307-01A-01D-1893-08		26752943	107098952	62	23018											
MTUS2	23281	broad.mit.edu	37	13	29600162	29600162	+	Missense_Mutation	SNP	A	A	G			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr13:29600162A>G	ENST00000431530.3	+	1	1415	c.1357A>G	c.(1357-1359)Aat>Gat	p.N453D		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	443						cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						TATTCCTAATAATCTGACTGA	0.473													17	48					0	0	0.539581	0	0	G	29600162	A	G	29600162	3	3	158	1	0	0	0	0	1	0	0	0	10014	362	13	3	1359	3	MTUS2	13	29600162	Missense_Mutation	SNP	A	TCGA-E1-5307-01A-01D-1893-08		29600162	85569716	63	23019											
KTN1	3895	broad.mit.edu	37	14	56117347	56117347	+	Missense_Mutation	SNP	G	G	A	rs148189219		TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr14:56117347G>A	ENST00000416613.1	+	23	2629	c.2557G>A	c.(2557-2559)Gct>Act	p.A853T	KTN1_ENST00000395308.1_Intron|KTN1_ENST00000395311.1_Intron|KTN1_ENST00000413890.2_Intron|KTN1_ENST00000395314.3_Missense_Mutation_p.A853T|KTN1_ENST00000554507.1_Missense_Mutation_p.A148T|KTN1_ENST00000438792.2_Missense_Mutation_p.A853T|KTN1_ENST00000395309.3_Missense_Mutation_p.A853T			Q86UP2	KTN1_HUMAN	kinectin 1 (kinesin receptor)	853					microtubule-based movement	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction				breast(4)|central_nervous_system(1)|large_intestine(8)|lung(1)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	19						GCTTGAAAAGGCTCAACAGGT	0.328			T	RET	papillary thryoid								5	80					0	0	0.184627	0	0	A	56117347	G	A	56117347	3	1	158	1	0	0	0	0	1	0	0	0	8624	1203	42	2	2647	2	KTN1	14	56117347	Missense_Mutation	SNP	G	TCGA-E1-5307-01A-01D-1893-08		56117347	51232193	64	23020											
TYRO3	7301	broad.mit.edu	37	15	41865634	41865634	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr15:41865634C>T	ENST00000263798.3	+	17	2338	c.2114C>T	c.(2113-2115)gCc>gTc	p.A705V	TYRO3_ENST00000559066.1_Missense_Mutation_p.A660V	NM_006293.3	NP_006284.2	Q06418	TYRO3_HUMAN	TYRO3 protein tyrosine kinase	705	Protein kinase.					integral to plasma membrane	ATP binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(26)|ovary(3)|prostate(1)	43		all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117)		GAGAGCCTGGCCGACAACCTG	0.582													4	172					0	0	0.150653	0	0	T	41865634	C	T	41865634	3	4	158	1	0	0	0	0	1	0	0	0	16876	739	26	2	2180	2	TYRO3	15	41865634	Missense_Mutation	SNP	C	TCGA-E1-5307-01A-01D-1893-08		41865634	60665758	65	23021											
TCF12	6938	broad.mit.edu	37	15	57543547	57543547	+	Splice_Site	SNP	G	G	A			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr15:57543547G>A	ENST00000267811.5	+	14	1418		c.e14-1		TCF12_ENST00000560764.1_Splice_Site|TCF12_ENST00000543579.1_Splice_Site|TCF12_ENST00000559703.1_Splice_Site|TCF12_ENST00000559710.1_Splice_Site|TCF12_ENST00000438423.2_Splice_Site|TCF12_ENST00000452095.2_Splice_Site|TCF12_ENST00000333725.5_Splice_Site|TCF12_ENST00000537840.1_Splice_Site|TCF12_ENST00000557843.1_Splice_Site|TCF12_ENST00000343827.3_Splice_Site	NM_003205.3|NM_207038.1	NP_003196.1|NP_996921.1	Q99081	HTF4_HUMAN	transcription factor 12						immune response|muscle organ development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity		TCF12/NR4A3(2)	breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	36		Colorectal(260;0.0907)		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)		GGTTTTAACAGGTACCAGTCA	0.423			T	TEC	extraskeletal myxoid chondrosarcoma								21	28					0	0	0.608945	0	0	A	57543547	G	A	57543547	5	1	158	1	0	0	0	0	0	0	1	0	15747	1014	35	2	1237	2	TCF12	15	57543547	Splice_Site	SNP	G	TCGA-E1-5307-01A-01D-1893-08	15677913	57543547	44987845	66	23022											
SLTM	79811	broad.mit.edu	37	15	59186365	59186365	+	Missense_Mutation	SNP	T	T	C			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr15:59186365T>C	ENST00000380516.2	-	11	1492	c.1405A>G	c.(1405-1407)Atg>Gtg	p.M469V	SLTM_ENST00000536328.1_Missense_Mutation_p.M38V	NM_001013843.1|NM_024755.2	NP_001013865.1|NP_079031.2	Q9NWH9	SLTM_HUMAN	SAFB-like, transcription modulator	469					apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						TCTTTCTTCATTTCTTTCTTA	0.294													4	39					0	0	0.184627	0	0	C	59186365	T	C	59186365	3	2	158	1	0	0	0	0	1	0	0	0	14808	1493	52	3	1743	3	SLTM	15	59186365	Missense_Mutation	SNP	T	TCGA-E1-5307-01A-01D-1893-08	1642818	59186365	43345027	67	23023											
VPS13C	54832	broad.mit.edu	37	15	62254029	62254029	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr15:62254029C>T	ENST00000261517.5	-	35	3740	c.3667G>A	c.(3667-3669)Gaa>Aaa	p.E1223K	VPS13C_ENST00000249837.3_Missense_Mutation_p.E1180K|VPS13C_ENST00000395896.4_Missense_Mutation_p.E1223K|VPS13C_ENST00000395898.3_Missense_Mutation_p.E1180K	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13 homolog C (S. cerevisiae)	1223					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						GCAGCCCTTTCTGCAGCCTGG	0.448													18	76					0	0	0.520397	0	0	T	62254029	C	T	62254029	3	4	158	1	0	0	0	0	1	0	0	0	17251	922	32	2	7826	2	VPS13C	15	62254029	Missense_Mutation	SNP	C	TCGA-E1-5307-01A-01D-1893-08	3067664	62254029	40277363	68	23024											
RGMA	56963	broad.mit.edu	37	15	93595609	93595609	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr15:93595609G>A	ENST00000329082.7	-	3	530	c.259C>T	c.(259-261)Cgg>Tgg	p.R87W	RGMA_ENST00000542321.2_Missense_Mutation_p.R71W|RGMA_ENST00000425933.2_Missense_Mutation_p.R71W|RGMA_ENST00000556658.1_5'UTR|RGMA_ENST00000538818.1_5'UTR|RGMA_ENST00000556087.1_Missense_Mutation_p.R71W|RGMA_ENST00000543599.1_Missense_Mutation_p.R71W|RGMA_ENST00000557420.1_Intron|RGMA_ENST00000557301.1_Missense_Mutation_p.R95W|RGMA_ENST00000555584.1_5'UTR	NM_020211.2	NP_064596	Q96B86	RGMA_HUMAN	repulsive guidance molecule family member a	87					axon guidance	anchored to membrane|endoplasmic reticulum|plasma membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	9	Lung NSC(78;0.0542)|all_lung(78;0.0786)		BRCA - Breast invasive adenocarcinoma(143;0.0312)|OV - Ovarian serous cystadenocarcinoma(32;0.108)			GCCGTCCGCCGCGTGCACAGG	0.677													4	29					0	0	0.184627	0	0	A	93595609	G	A	93595609	3	1	158	1	0	0	0	0	1	0	0	0	13332	1086	38	1	1101	1	RGMA	15	93595609	Missense_Mutation	SNP	G	TCGA-E1-5307-01A-01D-1893-08	31341580	93595609	8935783	69	23025											
CCDC102A	92922	broad.mit.edu	37	16	57550306	57550306	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr16:57550306C>T	ENST00000258214.2	-	7	1564	c.1318G>A	c.(1318-1320)Gca>Aca	p.A440T		NM_033212.3	NP_149989.2	Q96A19	C102A_HUMAN	coiled-coil domain containing 102A	440										endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	8						TTGGCATGTGCCAGCTCTGCC	0.632													3	39					0	0	0.115264	0	0	T	57550306	C	T	57550306	3	4	158	1	0	0	0	0	1	0	0	0	2754	739	26	2	346	2	CCDC102A	16	57550306	Missense_Mutation	SNP	C	TCGA-E1-5307-01A-01D-1893-08		57550306	32804447	70	23026											
TP53	7157	broad.mit.edu	37	17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	rs121913343		TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr17:7577121G>A	ENST00000420246.2	-	8	949	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000269305.4_Missense_Mutation_p.R273C|TP53_ENST00000445888.2_Missense_Mutation_p.R273C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	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).		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.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			35	9					0	0	0.760397	0	0	A	7577121	G	A	7577121	3	1	158	1	0	0	0	0	1	0	0	0	16442	1087	38	1	469	1	TP53	17	7577121	Missense_Mutation	SNP	G	TCGA-E1-5307-01A-01D-1893-08		7577121	73618089	71	23027											
CDK12	51755	broad.mit.edu	37	17	37627827	37627827	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr17:37627827C>T	ENST00000447079.4	+	2	1775	c.1742C>T	c.(1741-1743)aCt>aTt	p.T581I	CDK12_ENST00000430627.2_Missense_Mutation_p.T581I	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	581					mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						GCTTCCAGTACTTCAACTTTG	0.507			"Mis, N, F"		serous ovarian					TCGA Ovarian(9;0.13)			13	253					0	0	0.457914	0	0	T	37627827	C	T	37627827	3	4	158	1	0	0	0	0	1	0	0	0	3150	565	20	2	1748	2	CDK12	17	37627827	Missense_Mutation	SNP	C	TCGA-E1-5307-01A-01D-1893-08	30050706	37627827	43567383	72	23028											
GH1	2688	broad.mit.edu	37	17	61995729	61995729	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr17:61995729C>T	ENST00000323322.5	-	2	190	c.148G>A	c.(148-150)Gcc>Acc	p.A50T	GH1_ENST00000342364.4_Missense_Mutation_p.A50T|GH1_ENST00000458650.2_Missense_Mutation_p.A50T|CSHL1_ENST00000392824.4_Intron|GH1_ENST00000351388.4_Missense_Mutation_p.A50T	NM_000515.3	NP_000506.2	P01241	SOMA_HUMAN	growth hormone 1	50					glucose transport|growth hormone receptor signaling pathway|JAK-STAT cascade|positive regulation of activation of JAK2 kinase activity|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of MAP kinase activity|positive regulation of multicellular organism growth|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|response to estradiol stimulus	extracellular space	growth factor activity|growth hormone receptor binding|hormone activity|metal ion binding|prolactin receptor binding			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)	19						GTGTCAAAGGCCAGCTGGTGC	0.582													63	255					0	0	0.870114	0	0	T	61995729	C	T	61995729	3	4	158	1	0	0	0	0	1	0	0	0	6409	739	26	2	521	2	GH1	17	61995729	Missense_Mutation	SNP	C	TCGA-E1-5307-01A-01D-1893-08	24367902	61995729	19199481	73	23029											
TUBB6	84617	broad.mit.edu	37	18	12325927	12325927	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr18:12325927G>A	ENST00000317702.5	+	4	1373	c.1139G>A	c.(1138-1140)cGc>cAc	p.R380H	TUBB6_ENST00000591208.1_3'UTR|TUBB6_ENST00000590967.1_Intron|TUBB6_ENST00000591909.1_Intron			Q9BUF5	TBB6_HUMAN	tubulin, beta 6 class V	380					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)	14				READ - Rectum adenocarcinoma(1;0.0649)		CTGTTCAAGCGCATCTCCGAG	0.617													5	272					0	0	0.184627	0	0	A	12325927	G	A	12325927	3	1	158	1	0	0	0	0	1	0	0	0	16822	1087	38	1	1153	1	TUBB6	18	12325927	Missense_Mutation	SNP	G	TCGA-E1-5307-01A-01D-1893-08		12325927	65751321	74	23030											
CTAGE1	64693	broad.mit.edu	37	18	19997797	19997797	+	Translation_Start_Site	SNP	A	A	T			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr18:19997797A>T	ENST00000391403.2	-	0	81					NM_172241.2	NP_758441.2	Q96RT6	CTGE2_HUMAN	cutaneous T-cell lymphoma-associated antigen 1							integral to membrane				cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1)	27	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)					TGCTGCCACAACCCTGCGTAG	0.547													5	30					0	0	0.248553	0	0	T	19997797	A	T	19997797	1	4	158	1	0	0	0	0	0	0	0	0	4017	58	2	5		5	CTAGE1	18	19997797	Translation_Start_Site	SNP	A	TCGA-E1-5307-01A-01D-1893-08	7671870	19997797	58079451	75	23031											
GALR1	2587	broad.mit.edu	37	18	74980584	74980584	+	Missense_Mutation	SNP	C	C	G			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr18:74980584C>G	ENST00000299727.3	+	3	776	c.776C>G	c.(775-777)tCc>tGc	p.S259C		NM_001480.3	NP_001471.2	P47211	GALR1_HUMAN	galanin receptor 1	259					digestion|negative regulation of adenylate cyclase activity	integral to membrane|plasma membrane	galanin receptor activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211)		OV - Ovarian serous cystadenocarcinoma(15;1.03e-06)|BRCA - Breast invasive adenocarcinoma(31;0.104)		TTTGGAATCTCCTGGCTGCCG	0.567													40	172					0	0	0.834066	0	0	G	74980584	C	G	74980584	3	3	158	1	0	0	0	0	1	0	0	0	6267	855	30	5	786	5	GALR1	18	74980584	Missense_Mutation	SNP	C	TCGA-E1-5307-01A-01D-1893-08	54982787	74980584	3096664	76	23032											
ABCA7	10347	broad.mit.edu	37	19	1044692	1044692	+	Silent	SNP	C	C	T			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr19:1044692C>T	ENST00000263094.6	+	11	1395	c.1164C>T	c.(1162-1164)gaC>gaT	p.D388D	ABCA7_ENST00000435683.2_Silent_p.D250D|ABCA7_ENST00000433129.1_Silent_p.D388D	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	388					phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity			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)		GCTGGCAGGACGCACACGCTG	0.667													10	46					0	0	0.361761	0	0	T	1044692	C	T	1044692	2	4	158	1	0	0	0	0	0	0	0	1	37	535	19	1		1	ABCA7	19	1044692	Silent	SNP	C	TCGA-E1-5307-01A-01D-1893-08		1044692	58084291	77	23033											
MUC16	94025	broad.mit.edu	37	19	9090831	9090831	+	Silent	SNP	A	A	G			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr19:9090831A>G	ENST00000397910.4	-	1	1187	c.984T>C	c.(982-984)ccT>ccC	p.P328P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	328	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TCATGGAAAAAGGGATAGCTG	0.522													3	116					0	0	0.115264	0	0	G	9090831	A	G	9090831	2	3	158	1	0	0	0	0	0	0	0	1	10021	59	3	3		3	MUC16	19	9090831	Silent	SNP	A	TCGA-E1-5307-01A-01D-1893-08	8046139	9090831	50038152	78	23034											
OR7A17	26333	broad.mit.edu	37	19	14992008	14992008	+	Missense_Mutation	SNP	G	G	C			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr19:14992008G>C	ENST00000327462.2	-	1	256	c.160C>G	c.(160-162)Cac>Gac	p.H54D		NM_030901.1	NP_112163.1	O14581	OR7AH_HUMAN	olfactory receptor, family 7, subfamily A, member 17	54					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)	12	Ovarian(108;0.203)					GTGTGGAGGTGGGAGTCTGAG	0.502													6	111					0	0	0.217242	0	0	C	14992008	G	C	14992008	3	2	158	1	0	0	0	0	1	0	0	0	11262	1348	47	5	771	5	OR7A17	19	14992008	Missense_Mutation	SNP	G	TCGA-E1-5307-01A-01D-1893-08	5901177	14992008	44136975	79	23035											
ZNF536	9745	broad.mit.edu	37	19	31038967	31038967	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr19:31038967G>A	ENST00000355537.3	+	4	2588	c.2441G>A	c.(2440-2442)gGg>gAg	p.G814E		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	814					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					CCGCTGTCTGGGCAACCCCCA	0.572													5	139					0	0	0.184627	0	0	A	31038967	G	A	31038967	3	1	158	1	0	0	0	0	1	0	0	0	18031	1232	43	2	2451	2	ZNF536	19	31038967	Missense_Mutation	SNP	G	TCGA-E1-5307-01A-01D-1893-08	16046959	31038967	28090016	80	23036											
PRR19	284338	broad.mit.edu	37	19	42813898	42813898	+	Silent	SNP	G	G	T			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr19:42813898G>T	ENST00000499536.2	+	1	973	c.162G>T	c.(160-162)gtG>gtT	p.V54V	PRR19_ENST00000341747.3_Silent_p.V54V|PRR19_ENST00000598490.1_Silent_p.V54V			A6NJB7	PRR19_HUMAN	proline rich 19	54										NS(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	10		Prostate(69;0.00682)				ATCCACCTGTGGTCCCTACTG	0.622													9	128					5.4927e-09	5.69064e-09	0.307466	1	0	T	42813898	G	T	42813898	2	4	158	1	0	0	0	0	0	0	0	1	12643	1335	47	5		5	PRR19	19	42813898	Silent	SNP	G	TCGA-E1-5307-01A-01D-1893-08	11774931	42813898	16315085	81	23037											
ZNF613	79898	broad.mit.edu	37	19	52447902	52447902	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr19:52447902G>A	ENST00000293471.6	+	6	1445	c.766G>A	c.(766-768)Gga>Aga	p.G256R	ZNF613_ENST00000391794.4_Missense_Mutation_p.G220R	NM_001031721.3	NP_001026891.2	Q6PF04	ZN613_HUMAN	zinc finger protein 613	256					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	19		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.0183)		AAACCACACAGGAGAGAAACC	0.458													49	103					0	0	0.864702	0	0	A	52447902	G	A	52447902	3	1	158	1	0	0	0	0	1	0	0	0	18095	1001	35	2	780	2	ZNF613	19	52447902	Missense_Mutation	SNP	G	TCGA-E1-5307-01A-01D-1893-08	9634004	52447902	6681081	82	23038											
BCAS1	8537	broad.mit.edu	37	20	52611567	52611567	+	Missense_Mutation	SNP	T	T	C			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr20:52611567T>C	ENST00000395961.3	-	6	1077	c.911A>G	c.(910-912)aAg>aGg	p.K304R	BCAS1_ENST00000371440.3_Missense_Mutation_p.K304R|BCAS1_ENST00000434986.2_Missense_Mutation_p.K17R|BCAS1_ENST00000371435.2_Missense_Mutation_p.K304R	NM_003657.2	NP_003648.2	O75363	BCAS1_HUMAN	breast carcinoma amplified sequence 1	304						cytoplasm	protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(23)|ovary(2)|skin(2)|stomach(1)|urinary_tract(1)	37	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)			TTCTGGGTCCTTTTTTGTTTC	0.338													4	250					0	0	0.184627	0	0	C	52611567	T	C	52611567	3	2	158	1	0	0	0	0	1	0	0	0	1348	1609	56	3	871	3	BCAS1	20	52611567	Missense_Mutation	SNP	T	TCGA-E1-5307-01A-01D-1893-08		52611567	10413953	83	23039											
USP25	29761	broad.mit.edu	37	21	17250117	17250117	+	Silent	SNP	A	A	G			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr21:17250117A>G	ENST00000285681.2	+	24	3267	c.2898A>G	c.(2896-2898)aaA>aaG	p.K966K	USP25_ENST00000400183.2_Silent_p.K1004K|USP25_ENST00000285679.6_Silent_p.K934K|USP25_ENST00000351097.5_Silent_p.K329K	NM_001283042.1	NP_001269971.1	Q9UHP3	UBP25_HUMAN	ubiquitin specific peptidase 25	934					protein modification process|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.K934K(1)		breast(4)|endometrium(6)|kidney(2)|large_intestine(13)|liver(5)|lung(14)|ovary(4)|prostate(1)|skin(1)|urinary_tract(2)	52				Epithelial(23;7.55e-05)|all cancers(11;0.000429)|COAD - Colon adenocarcinoma(22;0.00543)|OV - Ovarian serous cystadenocarcinoma(11;0.00743)|Colorectal(24;0.0116)|Lung(58;0.0853)|LUSC - Lung squamous cell carcinoma(23;0.0889)		GCATTAAGAAATTAAATGAGC	0.313													5	9					0	0	0.217242	0	0	G	17250117	A	G	17250117	2	3	158	1	0	0	0	0	0	0	0	1	17116	98	4	3		3	USP25	21	17250117	Silent	SNP	A	TCGA-E1-5307-01A-01D-1893-08		17250117	30879778	84	23040											
PFKL	5211	broad.mit.edu	37	21	45746603	45746603	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr21:45746603G>A	ENST00000403390.1	+	23	2342	c.2342G>A	c.(2341-2343)cGc>cAc	p.R781H	PFKL_ENST00000349048.4_Missense_Mutation_p.R734H			P17858	K6PL_HUMAN	phosphofructokinase, liver	734					fructose 6-phosphate metabolic process|glycolysis|protein oligomerization	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|fructose-6-phosphate binding|identical protein binding|kinase binding|metal ion binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	23				Colorectal(79;0.0811)		CACAGGCACCGCATGCCACGG	0.667													3	8					0	0	0.184627	0	0	A	45746603	G	A	45746603	3	1	158	1	0	0	0	0	1	0	0	0	11812	1087	38	1	2287	1	PFKL	21	45746603	Missense_Mutation	SNP	G	TCGA-E1-5307-01A-01D-1893-08	28496486	45746603	2383292	85	23041											
ITGB2	3689	broad.mit.edu	37	21	46309270	46309270	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr21:46309270C>T	ENST00000397850.2	-	14	2250	c.1798G>A	c.(1798-1800)Gta>Ata	p.V600I	ITGB2_ENST00000397857.1_Missense_Mutation_p.V600I|ITGB2_ENST00000397854.3_Missense_Mutation_p.V543I|ITGB2_ENST00000355153.4_Missense_Mutation_p.V600I|ITGB2_ENST00000302347.5_Missense_Mutation_p.V600I|ITGB2_ENST00000397852.1_Missense_Mutation_p.V600I			P05107	ITB2_HUMAN	integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)	600	Cysteine-rich tandem repeats.				apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation	integrin complex	glycoprotein binding|protein kinase binding|receptor activity			breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3)	35				Colorectal(79;0.0669)	Simvastatin(DB00641)	CACTCGCATACGTTGCAGCGG	0.657													3	37					0	0	0.150653	0	0	T	46309270	C	T	46309270	3	4	158	1	0	0	0	0	1	0	0	0	7938	536	19	1	527	1	ITGB2	21	46309270	Missense_Mutation	SNP	C	TCGA-E1-5307-01A-01D-1893-08	562667	46309270	1820625	86	23042											
MICAL3	57553	broad.mit.edu	37	22	18301254	18301254	+	Silent	SNP	C	C	T			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr22:18301254C>T	ENST00000441493.2	-	26	4525	c.4173G>A	c.(4171-4173)ctG>ctA	p.L1391L		NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	1391	Pro-rich.					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		CCGGCTTTGGCAGGCCCAGCC	0.632													5	281					0	0	0.217242	0	0	T	18301254	C	T	18301254	2	4	158	1	0	0	0	0	0	0	0	1	9619	697	25	2		2	MICAL3	22	18301254	Silent	SNP	C	TCGA-E1-5307-01A-01D-1893-08		18301254	33003312	87	23043											
TEF	7008	broad.mit.edu	37	22	41783620	41783620	+	Silent	SNP	A	A	G			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr22:41783620A>G	ENST00000266304.4	+	2	539	c.423A>G	c.(421-423)ccA>ccG	p.P141P	TEF_ENST00000406644.3_Silent_p.P111P	NM_003216.3	NP_003207.1	Q10587	TEF_HUMAN	thyrotrophic embryonic factor	141					rhythmic process	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(2)|lung(2)|ovary(1)	6						CAGCATCCCCACCATCCTCCT	0.612													25	44					0	0	0.667858	0	0	G	41783620	A	G	41783620	2	3	158	1	0	0	0	0	0	0	0	1	15809	146	6	3		3	TEF	22	41783620	Silent	SNP	A	TCGA-E1-5307-01A-01D-1893-08	23482366	41783620	9520946	88	23044											
GDPD2	54857	broad.mit.edu	37	X	69652495	69652495	+	Missense_Mutation	SNP	A	A	T			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chrX:69652495A>T	ENST00000453994.2	+	15	2036	c.1675A>T	c.(1675-1677)Acc>Tcc	p.T559S	GDPD2_ENST00000536730.1_Missense_Mutation_p.T429S|GDPD2_ENST00000374382.3_Missense_Mutation_p.T508S|GDPD2_ENST00000472623.1_3'UTR|GDPD2_ENST00000538649.1_Missense_Mutation_p.T429S	NM_001171192.1	NP_001164663.1	Q9HCC8	GDPD2_HUMAN	glycerophosphodiester phosphodiesterase domain containing 2	508					glycerol metabolic process|lipid metabolic process	cytoplasm|cytoskeleton|integral to membrane|plasma membrane	glycerophosphodiester phosphodiesterase activity|glycerophosphoinositol inositolphosphodiesterase activity|metal ion binding			NS(1)|breast(1)|cervix(1)|endometrium(6)|large_intestine(8)|lung(3)|ovary(2)	22	Renal(35;0.156)					GCTTTTGTGGACCTTCCTCCT	0.488													28	147					0	0	0.740014	0	0	T	69652495	A	T	69652495	3	4	158	1	0	0	0	0	1	0	0	0	6366	275	10	5	1729	5	GDPD2	23	69652495	Missense_Mutation	SNP	A	TCGA-E1-5307-01A-01D-1893-08		69652495	85618065	89	23045											
ATRX	546	broad.mit.edu	37	X	76939496	76939496	+	Nonsense_Mutation	SNP	G	G	A			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chrX:76939496G>A	ENST00000373344.5	-	9	1466	c.1252C>T	c.(1252-1254)Cga>Tga	p.R418*	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Nonsense_Mutation_p.R380*	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	418					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)	TCCATCGCTCGAAACTCGGAA	0.373			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						184	169					0	0	0.870114	0	0	A	76939496	G	A	76939496	4	1	158	1	0	0	0	0	0	1	0	0	1206	1066	37	1	6334	1	ATRX	23	76939496	Nonsense_Mutation	SNP	G	TCGA-E1-5307-01A-01D-1893-08	7287001	76939496	78331064	90	23046											
NAP1L3	4675	broad.mit.edu	37	X	92927163	92927163	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chrX:92927163C>T	ENST00000373079.3	-	1	1404	c.1141G>A	c.(1141-1143)Gca>Aca	p.A381T	NAP1L3_ENST00000475430.2_Missense_Mutation_p.A374T	NM_004538.5	NP_004529.2	Q99457	NP1L3_HUMAN	nucleosome assembly protein 1-like 3	381					nucleosome assembly	chromatin assembly complex				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	34						TCTGGTTTTGCCTTTATTATA	0.403													6	40					0	0	0.217242	0	0	T	92927163	C	T	92927163	3	4	158	1	0	0	0	0	1	0	0	0	10206	739	26	2	383	2	NAP1L3	23	92927163	Missense_Mutation	SNP	C	TCGA-E1-5307-01A-01D-1893-08	15987667	92927163	62343397	91	23047											
ACSL4	2182	broad.mit.edu	37	X	108926516	108926516	+	Nonsense_Mutation	SNP	G	G	C			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chrX:108926516G>C	ENST00000340800.2	-	4	704	c.200C>G	c.(199-201)tCa>tGa	p.S67*	ACSL4_ENST00000348502.6_Nonsense_Mutation_p.S26*|ACSL4_ENST00000469796.2_Nonsense_Mutation_p.S67*	NM_022977.2	NP_075266.1	O60488	ACSL4_HUMAN	acyl-CoA synthetase long-chain family member 4	67					fatty acid metabolic process|learning or memory|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)	22					Icosapent(DB00159)|Troglitazone(DB00197)	TACAGCTAGTGAGTCGAAGTG	0.448													3	257					0	0	0.184627	0	0	C	108926516	G	C	108926516	4	2	158	1	0	0	0	0	0	1	0	0	179	1294	45	5	1991	5	ACSL4	23	108926516	Nonsense_Mutation	SNP	G	TCGA-E1-5307-01A-01D-1893-08	15999353	108926516	46344044	92	23048											
BCL9	607	broad.mit.edu	37	1	147092354	147092354	+	Missense_Mutation	SNP	G	G	T			TCGA-E1-5311-01A-01D-1468-08	TCGA-E1-5311-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b97717e-c288-4833-8161-03ae0b529aaf	3342b28b-0c68-47fb-9593-786c32c2cbe7	g.chr1:147092354G>T	ENST00000234739.3	+	8	3133	c.2393G>T	c.(2392-2394)cGg>cTg	p.R798L		NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	798	Pro-rich.				Wnt receptor signaling pathway	nucleus	protein binding			breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					AGTGGCTTGCGGAATCTCAGA	0.587			T	"IGH@, IGL@"	B-ALL								4	52					5.18039e-06	6.47549e-06	0.038147	1	0	T	147092354	G	T	147092354	3	4	159	1	0	0	0	0	1	0	0	0	1379	1116	39	5	2411	5	BCL9	1	147092354	Missense_Mutation	SNP	G	TCGA-E1-5311-01A-01D-1468-08		147092354	102158267	1	23049											
ECM1	1893	broad.mit.edu	37	1	150482440	150482440	+	Missense_Mutation	SNP	A	A	G			TCGA-E1-5311-01A-01D-1468-08	TCGA-E1-5311-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b97717e-c288-4833-8161-03ae0b529aaf	3342b28b-0c68-47fb-9593-786c32c2cbe7	g.chr1:150482440A>G	ENST00000369047.4	+	4	391	c.266A>G	c.(265-267)gAa>gGa	p.E89G	ECM1_ENST00000369049.4_Missense_Mutation_p.E116G|ECM1_ENST00000346569.6_Missense_Mutation_p.E89G|ECM1_ENST00000470432.1_3'UTR	NM_004425.3	NP_004416.2	Q16610	ECM1_HUMAN	extracellular matrix protein 1	89					angiogenesis|biomineral tissue development|negative regulation of bone mineralization|negative regulation of peptidase activity|ossification|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of I-kappaB kinase/NF-kappaB cascade	proteinaceous extracellular matrix	laminin binding|protease binding|protein C-terminus binding|signal transducer activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|urinary_tract(1)	22	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.29e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			CTCCAACAGGAAAAGCTGCTA	0.597													9	188					0	0	0.058154	0	0	G	150482440	A	G	150482440	3	3	159	1	0	0	0	0	1	0	0	0	4923	246	9	3	280	3	ECM1	1	150482440	Missense_Mutation	SNP	A	TCGA-E1-5311-01A-01D-1468-08	3390086	150482440	98768181	2	23050											
HEATR5B	54497	broad.mit.edu	37	2	37265041	37265041	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-5311-01A-01D-1468-08	TCGA-E1-5311-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b97717e-c288-4833-8161-03ae0b529aaf	3342b28b-0c68-47fb-9593-786c32c2cbe7	g.chr2:37265041G>A	ENST00000233099.5	-	21	3268	c.3173C>T	c.(3172-3174)gCa>gTa	p.A1058V	HEATR5B_ENST00000354531.2_Missense_Mutation_p.A1058V	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	1058							binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				ATGTCGTGGTGCAAACATGTG	0.383													43	71					0	0	0.139131	0	0	A	37265041	G	A	37265041	3	1	159	1	0	0	0	0	1	0	0	0	7073	1319	46	2	3106	2	HEATR5B	2	37265041	Missense_Mutation	SNP	G	TCGA-E1-5311-01A-01D-1468-08		37265041	205934332	3	23051											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-E1-5311-01A-01D-1468-08	TCGA-E1-5311-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b97717e-c288-4833-8161-03ae0b529aaf	3342b28b-0c68-47fb-9593-786c32c2cbe7	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	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								68	89					0	0	0.139131	0	0	T	209113112	C	T	209113112	3	4	159	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-E1-5311-01A-01D-1468-08	171848071	209113112	34086261	4	23052											
KCNJ13	3769	broad.mit.edu	37	2	233635999	233635999	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-5311-01A-01D-1468-08	TCGA-E1-5311-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b97717e-c288-4833-8161-03ae0b529aaf	3342b28b-0c68-47fb-9593-786c32c2cbe7	g.chr2:233635999C>T	ENST00000233826.3	-	2	213	c.74G>A	c.(73-75)gGc>gAc	p.G25D	GIGYF2_ENST00000409547.1_Intron|KCNJ13_ENST00000409779.1_Missense_Mutation_p.G25D|GIGYF2_ENST00000409480.1_Intron|KCNJ13_ENST00000410029.1_Missense_Mutation_p.G25D|GIGYF2_ENST00000373566.3_Intron|GIGYF2_ENST00000373563.4_Intron|GIGYF2_ENST00000409451.3_Intron|GIGYF2_ENST00000409196.3_Intron|GIGYF2_ENST00000452341.2_Intron	NM_002242.4	NP_002233.2	O60928	IRK13_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 13	25						voltage-gated potassium channel complex	inward rectifier potassium channel activity			endometrium(3)|large_intestine(2)|lung(2)|stomach(1)|urinary_tract(1)	9		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0306)|Lung NSC(271;0.0908)		Epithelial(121;5.9e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0617)		TGTGCTGTGGCCATCCTTGGT	0.468													4	117					0	0	0.014758	0	0	T	233635999	C	T	233635999	3	4	159	1	0	0	0	0	1	0	0	0	8091	739	26	2	1016	2	KCNJ13	2	233635999	Missense_Mutation	SNP	C	TCGA-E1-5311-01A-01D-1468-08	24522887	233635999	9563374	5	23053											
SMC4	10051	broad.mit.edu	37	3	160141575	160141575	+	Missense_Mutation	SNP	G	G	C			TCGA-E1-5311-01A-01D-1468-08	TCGA-E1-5311-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b97717e-c288-4833-8161-03ae0b529aaf	3342b28b-0c68-47fb-9593-786c32c2cbe7	g.chr3:160141575G>C	ENST00000357388.3	+	15	2723	c.2272G>C	c.(2272-2274)Gta>Cta	p.V758L	SMC4_ENST00000462787.1_Missense_Mutation_p.V758L|SMC4_ENST00000469762.1_Missense_Mutation_p.V733L|SMC4_ENST00000344722.5_Missense_Mutation_p.V758L|SMC4_ENST00000360111.2_Missense_Mutation_p.V758L|RP11-432B6.3_ENST00000483754.1_Intron	NM_001002800.1	NP_001002800.1	Q9NTJ3	SMC4_HUMAN	structural maintenance of chromosomes 4	758	Flexible hinge.				cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	ATP binding|protein heterodimerization activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			TGGAAGCAAAGTAATGAAAGG	0.383													30	133					0	0	0.074837	0	0	C	160141575	G	C	160141575	3	2	159	1	0	0	0	0	1	0	0	0	14839	1029	36	4	2326	4	SMC4	3	160141575	Missense_Mutation	SNP	G	TCGA-E1-5311-01A-01D-1468-08		160141575	37880855	6	23054											
FRAS1	80144	broad.mit.edu	37	4	79420950	79420950	+	Missense_Mutation	SNP	A	A	G			TCGA-E1-5311-01A-01D-1468-08	TCGA-E1-5311-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b97717e-c288-4833-8161-03ae0b529aaf	3342b28b-0c68-47fb-9593-786c32c2cbe7	g.chr4:79420950A>G	ENST00000264895.6	+	61	9631	c.9191A>G	c.(9190-9192)aAc>aGc	p.N3064S		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	3059	Calx-beta 5.				cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						GCGATTCTGAACATCAAGGTG	0.532													106	142					0	0	0.139131	0	0	G	79420950	A	G	79420950	3	3	159	1	0	0	0	0	1	0	0	0	6076	43	2	3	9508	3	FRAS1	4	79420950	Missense_Mutation	SNP	A	TCGA-E1-5311-01A-01D-1468-08		79420950	111733326	7	23055											
IL15	3600	broad.mit.edu	37	4	142651106	142651106	+	Missense_Mutation	SNP	T	T	C			TCGA-E1-5311-01A-01D-1468-08	TCGA-E1-5311-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b97717e-c288-4833-8161-03ae0b529aaf	3342b28b-0c68-47fb-9593-786c32c2cbe7	g.chr4:142651106T>C	ENST00000477265.1	+	6	5274	c.266T>C	c.(265-267)aTc>aCc	p.I89T	IL15_ENST00000320650.4_Missense_Mutation_p.I116T|IL15_ENST00000529613.1_Missense_Mutation_p.I116T|IL15_ENST00000296545.7_Missense_Mutation_p.I116T|IL15_ENST00000514653.1_Missense_Mutation_p.I89T|IL15_ENST00000394159.1_Missense_Mutation_p.I89T			P40933	IL15_HUMAN	interleukin 15	116					cell-cell signaling|immune response|positive regulation of interleukin-17 production	endosome|extracellular space|Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	cytokine activity|cytokine receptor binding|signal transducer activity			kidney(1)|large_intestine(1)|lung(2)|stomach(1)	5	all_hematologic(180;0.158)					AATCTGATCATCCTAGCAAAC	0.388													62	166					0	0	0.139131	0	0	C	142651106	T	C	142651106	3	2	159	1	0	0	0	0	1	0	0	0	7675	1435	50	3	365	3	IL15	4	142651106	Missense_Mutation	SNP	T	TCGA-E1-5311-01A-01D-1468-08	63230156	142651106	48503170	8	23056											
PCDHGA3	56112	broad.mit.edu	37	5	140724038	140724038	+	Silent	SNP	G	G	A			TCGA-E1-5311-01A-01D-1468-08	TCGA-E1-5311-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b97717e-c288-4833-8161-03ae0b529aaf	3342b28b-0c68-47fb-9593-786c32c2cbe7	g.chr5:140724038G>A	ENST00000253812.6	+	1	438	c.438G>A	c.(436-438)acG>acA	p.T146T	PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1												p.T146T(1)		breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGAACTAACGGTTCCTGGAA	0.353													78	68					0	0	0.139131	0	0	A	140724038	G	A	140724038	2	1	159	1	0	0	0	0	0	0	0	1	11602	1103	39	1		1	PCDHGA3	5	140724038	Silent	SNP	G	TCGA-E1-5311-01A-01D-1468-08		140724038	40191222	9	23057											
RIOK1	83732	broad.mit.edu	37	6	7398936	7398936	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-5311-01A-01D-1468-08	TCGA-E1-5311-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b97717e-c288-4833-8161-03ae0b529aaf	3342b28b-0c68-47fb-9593-786c32c2cbe7	g.chr6:7398936G>A	ENST00000379834.2	+	5	950	c.443G>A	c.(442-444)cGc>cAc	p.R148H		NM_031480.2|NM_153005.1	NP_113668.2|NP_694550.1	Q9BRS2	RIOK1_HUMAN	RIO kinase 1	148							ATP binding|protein serine/threonine kinase activity			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19	Ovarian(93;0.0418)					GTTAGGTATCGCATCAAAGAT	0.313													4	145					0	0	0.014758	0	0	A	7398936	G	A	7398936	3	1	159	1	0	0	0	0	1	0	0	0	13429	1087	38	1	461	1	RIOK1	6	7398936	Missense_Mutation	SNP	G	TCGA-E1-5311-01A-01D-1468-08		7398936	163716131	10	23058											
KIAA1324L	222223	broad.mit.edu	37	7	86526826	86526826	+	Missense_Mutation	SNP	A	A	C			TCGA-E1-5311-01A-01D-1468-08	TCGA-E1-5311-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b97717e-c288-4833-8161-03ae0b529aaf	3342b28b-0c68-47fb-9593-786c32c2cbe7	g.chr7:86526826A>C	ENST00000450689.2	-	19	2866	c.2681T>G	c.(2680-2682)tTt>tGt	p.F894C	KIAA1324L_ENST00000297222.6_Missense_Mutation_p.F654C|KIAA1324L_ENST00000416314.1_Missense_Mutation_p.F727C|KIAA1324L_ENST00000444627.1_Missense_Mutation_p.F823C	NM_001142749.2	NP_001136221.1	A8MWY0	K132L_HUMAN	KIAA1324-like	894						integral to membrane				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44	Esophageal squamous(14;0.0058)					CCTTACCTGAAATCCTCTCTT	0.468													69	129					0	0	0.139131	0	0	C	86526826	A	C	86526826	3	2	159	1	0	0	0	0	1	0	0	0	8266	14	1	5	424	5	KIAA1324L	7	86526826	Missense_Mutation	SNP	A	TCGA-E1-5311-01A-01D-1468-08		86526826	72611837	11	23059											
KCNU1	157855	broad.mit.edu	37	8	36766859	36766859	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-5311-01A-01D-1468-08	TCGA-E1-5311-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b97717e-c288-4833-8161-03ae0b529aaf	3342b28b-0c68-47fb-9593-786c32c2cbe7	g.chr8:36766859C>T	ENST00000399881.3	+	21	2174	c.2137C>T	c.(2137-2139)Cgg>Tgg	p.R713W		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	713	Segment S9.					voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity	p.R713W(2)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		GTATAAGTTTCGGAACCATAT	0.468													238	352					0	0	0.139131	0	0	T	36766859	C	T	36766859	3	4	159	1	0	0	0	0	1	0	0	0	8137	875	31	1	2219	1	KCNU1	8	36766859	Missense_Mutation	SNP	C	TCGA-E1-5311-01A-01D-1468-08		36766859	109597163	12	23060											
NOTCH1	4851	broad.mit.edu	37	9	139412204	139412204	+	Splice_Site	SNP	C	C	G			TCGA-E1-5311-01A-01D-1468-08	TCGA-E1-5311-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b97717e-c288-4833-8161-03ae0b529aaf	3342b28b-0c68-47fb-9593-786c32c2cbe7	g.chr9:139412204C>G	ENST00000277541.6	-	8	1516	c.1441G>C	c.(1441-1443)Ggc>Cgc	p.G481R		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	481	EGF-like 12; calcium-binding (Potential).				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	p.G481S(2)		breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GCCGACGCACCGGGCATGCAG	0.667			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			43	74					0	0	0.117977	0	0	G	139412204	C	G	139412204	5	3	159	1	0	0	0	0	0	0	1	0	10594	666	23	5	6334	5	NOTCH1	9	139412204	Splice_Site	SNP	C	TCGA-E1-5311-01A-01D-1468-08		139412204	1801227	13	23061											
PPFIA1	8500	broad.mit.edu	37	11	70208264	70208264	+	Silent	SNP	G	G	A			TCGA-E1-5311-01A-01D-1468-08	TCGA-E1-5311-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b97717e-c288-4833-8161-03ae0b529aaf	3342b28b-0c68-47fb-9593-786c32c2cbe7	g.chr11:70208264G>A	ENST00000253925.7	+	20	2861	c.2646G>A	c.(2644-2646)acG>acA	p.T882T	PPFIA1_ENST00000389547.3_Silent_p.T882T|AP000487.6_ENST00000528607.1_RNA	NM_003626.3	NP_003617.1	Q13136	LIPA1_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1	882	SAM 1.				cell-matrix adhesion	cytoplasm	protein binding|signal transducer activity			breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			ACGGGCCAACGGTTGTGGTCT	0.448													59	94					0	0	0.139131	0	0	A	70208264	G	A	70208264	2	1	159	1	0	0	0	0	0	0	0	1	12354	1103	39	1		1	PPFIA1	11	70208264	Silent	SNP	G	TCGA-E1-5311-01A-01D-1468-08		70208264	64798252	14	23062											
PIWIL4	143689	broad.mit.edu	37	11	94328554	94328554	+	Silent	SNP	G	G	A			TCGA-E1-5311-01A-01D-1468-08	TCGA-E1-5311-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b97717e-c288-4833-8161-03ae0b529aaf	3342b28b-0c68-47fb-9593-786c32c2cbe7	g.chr11:94328554G>A	ENST00000299001.6	+	10	1441	c.1230G>A	c.(1228-1230)cgG>cgA	p.R410R	RP11-867G2.8_ENST00000537874.1_RNA|RP11-867G2.8_ENST00000536540.1_RNA	NM_152431.2	NP_689644.2	Q7Z3Z4	PIWL4_HUMAN	piwi-like RNA-mediated gene silencing 4	410					cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|meiosis|multicellular organismal development|piRNA metabolic process|regulation of translation|spermatogenesis	nucleus|piP-body	piRNA binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|urinary_tract(2)	30		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				CTTCAGGCCGGCAGCAGCGCC	0.512													5	228					0	0	0.014758	0	0	A	94328554	G	A	94328554	2	1	159	1	0	0	0	0	0	0	0	1	12008	1190	42	2		2	PIWIL4	11	94328554	Silent	SNP	G	TCGA-E1-5311-01A-01D-1468-08	24120290	94328554	40677962	15	23063											
FDXACB1	91893	broad.mit.edu	37	11	111745983	111745983	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-5311-01A-01D-1468-08	TCGA-E1-5311-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b97717e-c288-4833-8161-03ae0b529aaf	3342b28b-0c68-47fb-9593-786c32c2cbe7	g.chr11:111745983C>T	ENST00000260257.4	-	5	1585	c.1538G>A	c.(1537-1539)cGt>cAt	p.R513H	ALG9_ENST00000524880.1_Intron|ALG9_ENST00000527377.1_Intron|FDXACB1_ENST00000542429.1_Missense_Mutation_p.R364H	NM_138378.2	NP_612387.1	Q9BRP7	FDXA1_HUMAN	ferredoxin-fold anticodon binding domain containing 1	513					phenylalanyl-tRNA aminoacylation|tRNA processing		ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|tRNA binding			endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(3)	19						TTTCAGGAAACGGTTATCAAA	0.383													4	89					0	0	0.009096	0	0	T	111745983	C	T	111745983	3	4	159	1	0	0	0	0	1	0	0	0	5839	536	19	1	340	1	FDXACB1	11	111745983	Missense_Mutation	SNP	C	TCGA-E1-5311-01A-01D-1468-08	17417429	111745983	23260533	16	23064											
PRDM10	56980	broad.mit.edu	37	11	129795084	129795084	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-5311-01A-01D-1468-08	TCGA-E1-5311-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b97717e-c288-4833-8161-03ae0b529aaf	3342b28b-0c68-47fb-9593-786c32c2cbe7	g.chr11:129795084C>T	ENST00000358825.5	-	13	1814	c.1583G>A	c.(1582-1584)cGg>cAg	p.R528Q	PRDM10_ENST00000304538.6_Missense_Mutation_p.R438Q|PRDM10_ENST00000526082.1_Missense_Mutation_p.R442Q|PRDM10_ENST00000423662.2_Missense_Mutation_p.R442Q|PRDM10_ENST00000528746.1_Missense_Mutation_p.R498Q|PRDM10_ENST00000360871.3_Missense_Mutation_p.R524Q	NM_020228.2	NP_064613.2	Q9NQV6	PRD10_HUMAN	PR domain containing 10	528					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)		TTTAAAAGGCCGGAAGGACTT	0.483													6	248					0	0	0.038147	0	0	T	129795084	C	T	129795084	3	4	159	1	0	0	0	0	1	0	0	0	12503	652	23	1	1939	1	PRDM10	11	129795084	Missense_Mutation	SNP	C	TCGA-E1-5311-01A-01D-1468-08	18049101	129795084	5211432	17	23065											
ST8SIA1	6489	broad.mit.edu	37	12	22408291	22408291	+	Silent	SNP	G	G	A			TCGA-E1-5311-01A-01D-1468-08	TCGA-E1-5311-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b97717e-c288-4833-8161-03ae0b529aaf	3342b28b-0c68-47fb-9593-786c32c2cbe7	g.chr12:22408291G>A	ENST00000396037.4	-	3	895	c.414C>T	c.(412-414)tgC>tgT	p.C138C	ST8SIA1_ENST00000539510.1_Intron	NM_003034.3	NP_003025.1	Q92185	SIA8A_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 1	138					glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity	p.C138F(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	25						CCACCACCGCGCATTTCTTCA	0.483													5	285					0	0	0.014758	0	0	A	22408291	G	A	22408291	2	1	159	1	0	0	0	0	0	0	0	1	15287	1079	38	1		1	ST8SIA1	12	22408291	Silent	SNP	G	TCGA-E1-5311-01A-01D-1468-08		22408291	111443604	18	23066											
AGAP2	116986	broad.mit.edu	37	12	58129157	58129157	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-5311-01A-01D-1468-08	TCGA-E1-5311-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b97717e-c288-4833-8161-03ae0b529aaf	3342b28b-0c68-47fb-9593-786c32c2cbe7	g.chr12:58129157G>A	ENST00000257897.3	-	2	299	c.214C>T	c.(214-216)Cgc>Tgc	p.R72C	AGAP2_ENST00000547588.1_Missense_Mutation_p.R408C	NM_014770.3	NP_055585.1	Q99490	AGAP2_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 2	408					axon guidance|negative regulation of neuron apoptosis|negative regulation of protein catabolic process|protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	mitochondrion|nucleolus	ARF GTPase activator activity|GTP binding|zinc ion binding	p.R72S(1)|p.R408S(1)		breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|large_intestine(7)|lung(20)|prostate(3)|skin(1)|stomach(1)	48						CCTACCAGGCGCAGTTCAGGA	0.567													3	38					0	0	0.009096	0	0	A	58129157	G	A	58129157	3	1	159	1	0	0	0	0	1	0	0	0	367	1087	38	1	2428	1	AGAP2	12	58129157	Missense_Mutation	SNP	G	TCGA-E1-5311-01A-01D-1468-08	35720866	58129157	75722738	19	23067											
UBAC2	337867	broad.mit.edu	37	13	99853778	99853778	+	Missense_Mutation	SNP	G	G	T			TCGA-E1-5311-01A-01D-1468-08	TCGA-E1-5311-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b97717e-c288-4833-8161-03ae0b529aaf	3342b28b-0c68-47fb-9593-786c32c2cbe7	g.chr13:99853778G>T	ENST00000376440.2	+	1	616	c.113G>T	c.(112-114)tGc>tTc	p.C38F	UBAC2_ENST00000403766.3_Intron	NM_177967.3	NP_808882.1	Q8NBM4	UBAC2_HUMAN	UBA domain containing 2	0						integral to membrane		p.C38F(1)		breast(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)	10	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CAGCTGTGCTGCTGGATGTTG	0.507											OREG0022482	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	108					0.0293803	0.0349766	0.02938	1	0	T	99853778	G	T	99853778	3	4	159	1	0	0	0	0	1	0	0	0	16896	1319	46	5	150	5	UBAC2	13	99853778	Missense_Mutation	SNP	G	TCGA-E1-5311-01A-01D-1468-08		99853778	15316100	20	23068											
RAB20	55647	broad.mit.edu	37	13	111176298	111176298	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-5311-01A-01D-1468-08	TCGA-E1-5311-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b97717e-c288-4833-8161-03ae0b529aaf	3342b28b-0c68-47fb-9593-786c32c2cbe7	g.chr13:111176298C>T	ENST00000267328.3	-	2	632	c.419G>A	c.(418-420)cGt>cAt	p.R140H		NM_017817.1	NP_060287.1	Q9NX57	RAB20_HUMAN	RAB20, member RAS oncogene family	140					protein transport|small GTPase mediated signal transduction	Golgi apparatus	GTP binding			endometrium(2)|large_intestine(2)|lung(3)	7	all_cancers(4;1.54e-11)|all_epithelial(4;1.22e-06)|all_lung(23;1e-05)|Lung NSC(43;0.000453)|Colorectal(4;0.00323)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.197)			TGGGGAGACACGGTCCCCAGC	0.577													4	150					0	0	0.009096	0	0	T	111176298	C	T	111176298	3	4	159	1	0	0	0	0	1	0	0	0	12959	536	19	1	289	1	RAB20	13	111176298	Missense_Mutation	SNP	C	TCGA-E1-5311-01A-01D-1468-08	11322520	111176298	3993580	21	23069											
RYR3	6263	broad.mit.edu	37	15	34157386	34157386	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-5311-01A-01D-1468-08	TCGA-E1-5311-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b97717e-c288-4833-8161-03ae0b529aaf	3342b28b-0c68-47fb-9593-786c32c2cbe7	g.chr15:34157386G>A	ENST00000389232.4	+	104	14642	c.14572G>A	c.(14572-14574)Ggt>Agt	p.G4858S	RYR3_ENST00000415757.3_Missense_Mutation_p.G4853S	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	4858					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CTTCCCAGCCGGTGACTGCTT	0.393													3	90					0	0	0.115264	0	0	A	34157386	G	A	34157386	3	1	159	1	0	0	0	0	1	0	0	0	13822	1116	39	1	14986	1	RYR3	15	34157386	Missense_Mutation	SNP	G	TCGA-E1-5311-01A-01D-1468-08		34157386	68374006	22	23070											
PKD1	5310	broad.mit.edu	37	16	2155892	2155892	+	Silent	SNP	A	A	G	rs149467954	by1000genomes	TCGA-E1-5311-01A-01D-1468-08	TCGA-E1-5311-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b97717e-c288-4833-8161-03ae0b529aaf	3342b28b-0c68-47fb-9593-786c32c2cbe7	g.chr16:2155892A>G	ENST00000262304.4	-	20	8045	c.7837T>C	c.(7837-7839)Ttg>Ctg	p.L2613L	PKD1_ENST00000561991.1_5'UTR|PKD1_ENST00000423118.1_Silent_p.L2613L	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	2613	REJ.		Missing (in ADPKD1; could be a polymorphism).		calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding	p.L2613L(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						ACCAGGGCCAACGAGTACTCG	0.657													4	76					0	0	0.009096	0	0	G	2155892	A	G	2155892	2	3	159	1	0	0	0	0	0	0	0	1	12011	40	2	3		3	PKD1	16	2155892	Silent	SNP	A	TCGA-E1-5311-01A-01D-1468-08		2155892	88198861	23	23071											
ANKRD11	29123	broad.mit.edu	37	16	89350191	89350191	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-5311-01A-01D-1468-08	TCGA-E1-5311-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b97717e-c288-4833-8161-03ae0b529aaf	3342b28b-0c68-47fb-9593-786c32c2cbe7	g.chr16:89350191C>T	ENST00000301030.4	-	9	3219	c.2759G>A	c.(2758-2760)aGg>aAg	p.R920K	ANKRD11_ENST00000378330.2_Missense_Mutation_p.R920K	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	920	Lys-rich.					nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		CTGCTCTTTCCTCTTCTCAGA	0.547													104	204					0	0	0.139131	0	0	T	89350191	C	T	89350191	3	4	159	1	0	0	0	0	1	0	0	0	635	681	24	2	5252	2	ANKRD11	16	89350191	Missense_Mutation	SNP	C	TCGA-E1-5311-01A-01D-1468-08	87194299	89350191	1004562	24	23072											
USP6	9098	broad.mit.edu	37	17	5074028	5074028	+	Missense_Mutation	SNP	A	A	T			TCGA-E1-5311-01A-01D-1468-08	TCGA-E1-5311-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b97717e-c288-4833-8161-03ae0b529aaf	3342b28b-0c68-47fb-9593-786c32c2cbe7	g.chr17:5074028A>T	ENST00000574788.1	+	36	6002	c.3772A>T	c.(3772-3774)Act>Tct	p.T1258S	USP6_ENST00000304328.5_Missense_Mutation_p.T941S|USP6_ENST00000250066.6_Missense_Mutation_p.T1258S|USP6_ENST00000332776.4_3'UTR			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6 (Tre-2 oncogene)	1258					protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						AGAGCTGGTCACTCCTCAGGA	0.572			T	"COL1A1, CDH11, ZNF9, OMD"	aneurysmal bone cysts								5	141					0	0	0.021553	0	0	T	5074028	A	T	5074028	3	4	159	1	0	0	0	0	1	0	0	0	17146	159	6	5	3878	5	USP6	17	5074028	Missense_Mutation	SNP	A	TCGA-E1-5311-01A-01D-1468-08		5074028	76121182	25	23073											
SSH2	85464	broad.mit.edu	37	17	27994187	27994187	+	Silent	SNP	G	G	A			TCGA-E1-5311-01A-01D-1468-08	TCGA-E1-5311-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b97717e-c288-4833-8161-03ae0b529aaf	3342b28b-0c68-47fb-9593-786c32c2cbe7	g.chr17:27994187G>A	ENST00000269033.3	-	9	934	c.783C>T	c.(781-783)atC>atT	p.I261I	RP11-68I3.2_ENST00000581474.1_RNA|SSH2_ENST00000540801.1_Silent_p.I288I	NM_001282129.1|NM_033389.2	NP_001269058.1|NP_203747.2	Q76I76	SSH2_HUMAN	slingshot protein phosphatase 2	261					actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity		SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TCTGCATCATGATCTCCCTTA	0.383													51	100					0	0	0.139131	0	0	A	27994187	G	A	27994187	2	1	159	1	0	0	0	0	0	0	0	1	15241	1280	45	2		2	SSH2	17	27994187	Silent	SNP	G	TCGA-E1-5311-01A-01D-1468-08	22920159	27994187	53201023	26	23074											
PSMD8	5714	broad.mit.edu	37	19	38865398	38865398	+	Frame_Shift_Del	DEL	A	A	-			TCGA-E1-5311-01A-01D-1468-08	TCGA-E1-5311-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b97717e-c288-4833-8161-03ae0b529aaf	3342b28b-0c68-47fb-9593-786c32c2cbe7	g.chr19:38865398delA	ENST00000215071.4	+	1	223	c.157delA	c.(157-159)aaafs	p.K53fs	PSMD8_ENST00000602911.1_5'Flank	NM_002812.4	NP_002803.2	P48556	PSMD8_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 8	53					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome regulatory particle	protein binding			central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(1)	6	all_cancers(60;3.4e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			GCGCTGCCGTAAATCAGGCGG	0.736													2	4	---	---	---	---						-	38865398	A	-	38865398	7	5	159	1	0	1	0	1	0	0	0	0	12753	363	13	0	159	0	PSMD8	19	38865398	Frame_Shift_Del	DEL	A	TCGA-E1-5311-01A-01D-1468-08		38865398	20263585	27	23075											
CIC	23152	broad.mit.edu	37	19	42791718	42791718	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-5311-01A-01D-1468-08	TCGA-E1-5311-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b97717e-c288-4833-8161-03ae0b529aaf	3342b28b-0c68-47fb-9593-786c32c2cbe7	g.chr19:42791718C>T	ENST00000572681.2	+	6	3399	c.3331C>T	c.(3331-3333)Cgg>Tgg	p.R1111W	CIC_ENST00000160740.3_Missense_Mutation_p.R202W|CIC_ENST00000575354.2_Missense_Mutation_p.R202W			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	202	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	p.R202W(1)		autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CCACATCCGGCGGCCCATGAA	0.622			"Mis, F, S"		oligodendroglioma								51	28					0	0	0.139131	0	0	T	42791718	C	T	42791718	3	4	159	1	0	0	0	0	1	0	0	0	3446	759	27	1	622	1	CIC	19	42791718	Missense_Mutation	SNP	C	TCGA-E1-5311-01A-01D-1468-08	3926320	42791718	16337265	28	23076											
PSG4	5672	broad.mit.edu	37	19	43702179	43702179	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-5311-01A-01D-1468-08	TCGA-E1-5311-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b97717e-c288-4833-8161-03ae0b529aaf	3342b28b-0c68-47fb-9593-786c32c2cbe7	g.chr19:43702179G>A	ENST00000405312.3	-	3	916	c.679C>T	c.(679-681)Cgc>Tgc	p.R227C	PSG4_ENST00000244295.9_Missense_Mutation_p.R227C|PSG4_ENST00000433626.2_Intron	NM_002780.3	NP_002771.2	Q00888	PSG4_HUMAN	pregnancy specific beta-1-glycoprotein 4	227	Ig-like C2-type 1.				defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24		Prostate(69;0.00682)				GGGTCACTGCGGCTGGCACTC	0.522													9	260					0	0	0.09319	0	0	A	43702179	G	A	43702179	3	1	159	1	0	0	0	0	1	0	0	0	12706	1116	39	1	596	1	PSG4	19	43702179	Missense_Mutation	SNP	G	TCGA-E1-5311-01A-01D-1468-08	910461	43702179	15426804	29	23077											
PLCB1	23236	broad.mit.edu	37	20	8862304	8862304	+	Missense_Mutation	SNP	A	A	C			TCGA-E1-5311-01A-01D-1468-08	TCGA-E1-5311-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b97717e-c288-4833-8161-03ae0b529aaf	3342b28b-0c68-47fb-9593-786c32c2cbe7	g.chr20:8862304A>C	ENST00000338037.6	+	32	3486	c.3459A>C	c.(3457-3459)aaA>aaC	p.K1153N	PLCB1_ENST00000378641.3_3'UTR	NM_015192.2	NP_056007.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	1153					activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						ACCAAGACAAATTCAAAAGAC	0.468													159	228					0	0	0.139131	0	0	C	8862304	A	C	8862304	3	2	159	1	0	0	0	0	1	0	0	0	12075	98	4	4	3688	4	PLCB1	20	8862304	Missense_Mutation	SNP	A	TCGA-E1-5311-01A-01D-1468-08		8862304	54163216	30	23078											
TCFL5	10732	broad.mit.edu	37	20	61488943	61488943	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-5311-01A-01D-1468-08	TCGA-E1-5311-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b97717e-c288-4833-8161-03ae0b529aaf	3342b28b-0c68-47fb-9593-786c32c2cbe7	g.chr20:61488943G>A	ENST00000335351.3	-	4	1134	c.1042C>T	c.(1042-1044)Cgt>Tgt	p.R348C	TCFL5_ENST00000217162.5_Missense_Mutation_p.R300C	NM_006602.2	NP_006593.2	Q9UL49	TCFL5_HUMAN	transcription factor-like 5 (basic helix-loop-helix)	348	R3 epitope (recognized by Chagas's antibodies).				cell differentiation|multicellular organismal development|regulation of cell differentiation|regulation of cell proliferation|spermatogenesis|transcription from RNA polymerase II promoter		DNA binding|sequence-specific DNA binding transcription factor activity	p.R348C(1)		breast(1)|endometrium(1)|large_intestine(5)|lung(1)|urinary_tract(1)	9	Breast(26;5.68e-08)					TCCAACTGACGCATTCTACTC	0.463													84	134					0	0	0.139131	0	0	A	61488943	G	A	61488943	3	1	159	1	0	0	0	0	1	0	0	0	15759	1087	38	1	472	1	TCFL5	20	61488943	Missense_Mutation	SNP	G	TCGA-E1-5311-01A-01D-1468-08	52626639	61488943	1536577	31	23079											
TUBGCP6	85378	broad.mit.edu	37	22	50658942	50658942	+	Silent	SNP	G	G	C	rs151156085	byFrequency	TCGA-E1-5311-01A-01D-1468-08	TCGA-E1-5311-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b97717e-c288-4833-8161-03ae0b529aaf	3342b28b-0c68-47fb-9593-786c32c2cbe7	g.chr22:50658942G>C	ENST00000439308.2	-	16	4338	c.3846C>G	c.(3844-3846)ctC>ctG	p.L1282L	TUBGCP6_ENST00000248846.5_Silent_p.L1282L|TUBGCP6_ENST00000491449.1_5'UTR	NM_020461.3	NP_065194.2	Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	1282					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		CTTCTGGTGAGAGAGCCCCCA	0.657													3	46					0	0	0.115264	0	0	C	50658942	G	C	50658942	2	2	159	1	0	0	0	0	0	0	0	1	16832	929	33	4		4	TUBGCP6	22	50658942	Silent	SNP	G	TCGA-E1-5311-01A-01D-1468-08		50658942	645624	32	23080											
SBF1	6305	broad.mit.edu	37	22	50898523	50898523	+	Missense_Mutation	SNP	T	T	C			TCGA-E1-5311-01A-01D-1468-08	TCGA-E1-5311-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b97717e-c288-4833-8161-03ae0b529aaf	3342b28b-0c68-47fb-9593-786c32c2cbe7	g.chr22:50898523T>C	ENST00000380817.3	-	26	3532	c.3349A>G	c.(3349-3351)Acc>Gcc	p.T1117A	SBF1_ENST00000390679.3_Missense_Mutation_p.T1117A|SBF1_ENST00000348911.6_Missense_Mutation_p.T1118A	NM_002972.2	NP_002963.2	O95248	MTMR5_HUMAN	SET binding factor 1						protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		CTGCTCATGGTCATGCGGTCG	0.677													3	91					0	0	0.115264	0	0	C	50898523	T	C	50898523	3	2	159	1	0	0	0	0	1	0	0	0	13911	1667	58	3	2396	3	SBF1	22	50898523	Missense_Mutation	SNP	T	TCGA-E1-5311-01A-01D-1468-08	239581	50898523	406043	33	23081											
HRNR	388697	broad.mit.edu	37	1	152193228	152193228	+	Missense_Mutation	SNP	A	A	G			TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chr1:152193228A>G	ENST00000368801.2	-	3	952	c.877T>C	c.(877-879)Tct>Cct	p.S293P	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	293					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGGCCCAAAGACTGACGGGAA	0.607													13	301					0	0	1	0	0	G	152193228	A	G	152193228	3	3	160	1	0	0	0	0	1	0	0	0	7400	275	10	3	7679	3	HRNR	1	152193228	Missense_Mutation	SNP	A	TCGA-E1-5318-01A-01D-1468-08		152193228	97057393	1	23082											
SELE	6401	broad.mit.edu	37	1	169698637	169698637	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chr1:169698637G>A	ENST00000333360.7	-	6	1032	c.893C>T	c.(892-894)aCg>aTg	p.T298M	SELE_ENST00000367782.4_Missense_Mutation_p.T298M|SELE_ENST00000367780.4_Missense_Mutation_p.T236M|SELE_ENST00000367775.1_Missense_Mutation_p.T236M|SELE_ENST00000367779.4_Missense_Mutation_p.T298M|SELE_ENST00000367777.1_Missense_Mutation_p.T298M|SELE_ENST00000367774.1_Missense_Mutation_p.T298M|C1orf112_ENST00000498289.1_Intron|SELE_ENST00000367776.1_Missense_Mutation_p.T298M|SELE_ENST00000367781.4_Missense_Mutation_p.T298M	NM_000450.2	NP_000441.2	P16581	LYAM2_HUMAN	selectin E	298	Sushi 2.				actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	all_hematologic(923;0.208)					ACCTTTACACGTTGGCTTCTC	0.443													80	93					0	0	1	0	0	A	169698637	G	A	169698637	3	1	160	1	0	0	0	0	1	0	0	0	14067	1145	40	1	971	1	SELE	1	169698637	Missense_Mutation	SNP	G	TCGA-E1-5318-01A-01D-1468-08	17505409	169698637	79551984	2	23083											
INO80B	83444	broad.mit.edu	37	2	74684817	74684817	+	Silent	SNP	G	G	A			TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chr2:74684817G>A	ENST00000233331.7	+	5	991	c.897G>A	c.(895-897)cgG>cgA	p.R299R		NM_031288.3	NP_112578.2	Q9C086	IN80B_HUMAN	INO80 complex subunit B	299					DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex|nucleolus	metal ion binding|protein binding			endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	13						TGTCTCAGCGGCCATCCCCCT	0.716													3	36					0	0	1	0	0	A	74684817	G	A	74684817	2	1	160	1	0	0	0	0	0	0	0	1	7791	1190	42	2		2	INO80B	2	74684817	Silent	SNP	G	TCGA-E1-5318-01A-01D-1468-08		74684817	168514556	3	23084											
IL1RL2	8808	broad.mit.edu	37	2	102805614	102805614	+	Missense_Mutation	SNP	C	C	A			TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chr2:102805614C>A	ENST00000264257.2	+	3	263	c.137C>A	c.(136-138)cCc>cAc	p.P46H	IL1RL2_ENST00000481806.1_Intron|IL1RL2_ENST00000441515.2_Intron|IL1RL2_ENST00000539491.1_Missense_Mutation_p.P46H	NM_003854.2	NP_003845.2	Q9HB29	ILRL2_HUMAN	interleukin 1 receptor-like 2	46	Ig-like C2-type 1.				cellular defense response|innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|liver(2)|lung(8)|ovary(2)|prostate(1)	26						ACATTCCCTCCCATAACATCT	0.378													9	144					0.00621372	0.00669169	1	1	0	A	102805614	C	A	102805614	3	1	160	1	0	0	0	0	1	0	0	0	7708	623	22	5	143	5	IL1RL2	2	102805614	Missense_Mutation	SNP	C	TCGA-E1-5318-01A-01D-1468-08	28120797	102805614	140393759	4	23085											
NEB	4703	broad.mit.edu	37	2	152521900	152521900	+	Missense_Mutation	SNP	T	T	A			TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chr2:152521900T>A	ENST00000397345.3	-	42	5387	c.5185A>T	c.(5185-5187)Atg>Ttg	p.M1729L	NEB_ENST00000604864.1_Missense_Mutation_p.M1729L|NEB_ENST00000409198.1_Missense_Mutation_p.M1729L|NEB_ENST00000427231.2_Missense_Mutation_p.M1729L|NEB_ENST00000603639.1_Missense_Mutation_p.M1729L|NEB_ENST00000172853.10_Missense_Mutation_p.M1729L	NM_001164508.1	NP_001157980	P20929	NEBU_HUMAN	nebulin	1729					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		ATTGTGTCCATGGCGTAAGTG	0.507													30	38					0	0	1	0	0	A	152521900	T	A	152521900	3	1	160	1	0	0	0	0	1	0	0	0	10349	1464	51	4	21065	4	NEB	2	152521900	Missense_Mutation	SNP	T	TCGA-E1-5318-01A-01D-1468-08	49716286	152521900	90677473	5	23086											
KLHL30	377007	broad.mit.edu	37	2	239051515	239051515	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chr2:239051515G>A	ENST00000409223.1	+	3	957	c.850G>A	c.(850-852)Gca>Aca	p.A284T	KLHL30_ENST00000305959.4_Missense_Mutation_p.A266T			Q0D2K2	KLH30_HUMAN	kelch-like family member 30	284										lung(4)	4		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		GGAGGAGGAGGCAGGTGAGGA	0.672													4	15					0	0	1	0	0	A	239051515	G	A	239051515	3	1	160	1	0	0	0	0	1	0	0	0	8427	1203	42	2	856	2	KLHL30	2	239051515	Missense_Mutation	SNP	G	TCGA-E1-5318-01A-01D-1468-08	86529615	239051515	4147858	6	23087											
CD96	10225	broad.mit.edu	37	3	111197863	111197868	+	RNA	DEL	CACACA	CACACA	-	rs71968470		TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chr3:111197863_111197868delCACACA	ENST00000497896.1	-	0	208																											CGAACAGCCTcacacacacacacaca	0.544													4	3	---	---	---	---						-	111197868	CACACA	-	111197863	6	5	160	0	1	1	0	1	0	0	0	0	3070	841	29	0		0	CD96	3	111197863	RNA	DEL	CACACA	TCGA-E1-5318-01A-01D-1468-08		111197863	86824567	7	23088											
SI	6476	broad.mit.edu	37	3	164776970	164776970	+	Missense_Mutation	SNP	A	A	G	rs148511215	by1000genomes	TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chr3:164776970A>G	ENST00000264382.3	-	11	1326	c.1264T>C	c.(1264-1266)Tat>Cat	p.Y422H		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	422	Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	ATGATGACATATTTCTGTCCA	0.323										HNSCC(35;0.089)			13	94					0	0	1	0	0	G	164776970	A	G	164776970	3	3	160	1	0	0	0	0	1	0	0	0	14352	449	16	3	4371	3	SI	3	164776970	Missense_Mutation	SNP	A	TCGA-E1-5318-01A-01D-1468-08	53579107	164776970	33245460	8	23089											
ATP13A3	79572	broad.mit.edu	37	3	194170983	194170983	+	Silent	SNP	G	G	A			TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chr3:194170983G>A	ENST00000439040.1	-	11	1652	c.861C>T	c.(859-861)acC>acT	p.T287T	ATP13A3_ENST00000256031.4_Silent_p.T287T			Q9H7F0	AT133_HUMAN	ATPase type 13A3	287					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	24	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)		GCACAAGGTCGGTAGAAAAGA	0.343													4	83					0	0	1	0	0	A	194170983	G	A	194170983	2	1	160	1	0	0	0	0	0	0	0	1	1124	1103	39	1		1	ATP13A3	3	194170983	Silent	SNP	G	TCGA-E1-5318-01A-01D-1468-08	29394013	194170983	3851447	9	23090											
MUC4	4585	broad.mit.edu	37	3	195505849	195505849	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chr3:195505849G>A	ENST00000463781.3	-	2	13061	c.12602C>T	c.(12601-12603)gCa>gTa	p.A4201V	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.A4201V|MUC4_ENST00000346145.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	964					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		ACCTGTGGATGCTGAGGAAGT	0.592													5	5					0	0	1	0	0	A	195505849	G	A	195505849	3	1	160	1	0	0	0	0	1	0	0	0	10026	1319	46	2		2	MUC4	3	195505849	Missense_Mutation	SNP	G	TCGA-E1-5318-01A-01D-1468-08	1334866	195505849	2516581	10	23091											
FSTL5	56884	broad.mit.edu	37	4	162577528	162577528	+	Nonsense_Mutation	SNP	C	C	T			TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chr4:162577528C>T	ENST00000306100.5	-	7	1282	c.846G>A	c.(844-846)tgG>tgA	p.W282*	FSTL5_ENST00000511170.1_5'UTR|FSTL5_ENST00000536695.1_Nonsense_Mutation_p.W281*|FSTL5_ENST00000427802.2_Nonsense_Mutation_p.W281*|FSTL5_ENST00000379164.4_Nonsense_Mutation_p.W281*	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	282	Ig-like 1.					extracellular region	calcium ion binding	p.W282*(1)		central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		TGTTCCTTTTCCAGATAATGG	0.353													18	97					0	0	1	0	0	T	162577528	C	T	162577528	4	4	160	1	0	0	0	0	0	1	0	0	6115	856	30	2	1737	2	FSTL5	4	162577528	Nonsense_Mutation	SNP	C	TCGA-E1-5318-01A-01D-1468-08		162577528	28576748	11	23092											
NAIP	4671	broad.mit.edu	37	5	70308387	70308387	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chr5:70308387C>T	ENST00000517649.1	-	4	646	c.356G>A	c.(355-357)aGg>aAg	p.R119K	NAIP_ENST00000523981.1_Intron|NAIP_ENST00000503719.2_Intron|NAIP_ENST00000508426.2_Missense_Mutation_p.R119K|NAIP_ENST00000194097.4_Missense_Mutation_p.R119K	NM_004536.2	NP_004527.2	Q13075	BIRC1_HUMAN	NLR family, apoptosis inhibitory protein	119					anti-apoptosis|apoptosis|nervous system development	basolateral plasma membrane|cytoplasm	caspase inhibitor activity|metal ion binding|nucleoside-triphosphatase activity|nucleotide binding			central_nervous_system(1)	1		Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174)		TGGATGAAACCTCTTGTGGTC	0.473													63	97					0	0	1	0	0	T	70308387	C	T	70308387	3	4	160	1	0	0	0	0	1	0	0	0	10195	681	24	2	3911	2	NAIP	5	70308387	Missense_Mutation	SNP	C	TCGA-E1-5318-01A-01D-1468-08		70308387	110606873	12	23093											
TTK	7272	broad.mit.edu	37	6	80746270	80746270	+	Missense_Mutation	SNP	C	C	A			TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chr6:80746270C>A	ENST00000509894.1	+	17	2829	c.2000C>A	c.(1999-2001)gCa>gAa	p.A667E	TTK_ENST00000369798.2_Missense_Mutation_p.A668E|TTK_ENST00000230510.3_Missense_Mutation_p.A667E			P33981	TTK_HUMAN	TTK protein kinase	668	Protein kinase.				mitotic cell cycle spindle assembly checkpoint|mitotic spindle organization|positive regulation of cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation	spindle	ATP binding|identical protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1)	53		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)		BRCA - Breast invasive adenocarcinoma(397;0.0321)		TTTGGGATTGCAAACCAAATG	0.338													7	186					0.00198382	0.0021698	1	1	0	A	80746270	C	A	80746270	3	1	160	1	0	0	0	0	1	0	0	0	16782	710	25	5	2065	5	TTK	6	80746270	Missense_Mutation	SNP	C	TCGA-E1-5318-01A-01D-1468-08		80746270	90368797	13	23094											
PSD3	23362	broad.mit.edu	37	8	18725224	18725224	+	Missense_Mutation	SNP	T	T	C	rs62636654		TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chr8:18725224T>C	ENST00000440756.2	-	4	1696	c.1594A>G	c.(1594-1596)Atc>Gtc	p.I532V	PSD3_ENST00000523619.1_Missense_Mutation_p.I467V|PSD3_ENST00000327040.8_Missense_Mutation_p.I532V			Q9NYI0	PSD3_HUMAN	pleckstrin and Sec7 domain containing 3	532					regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		TTCGTGTAGATGGAGTCGCTG	0.507													71	103					0	0	1	0	0	C	18725224	T	C	18725224	3	2	160	1	0	0	0	0	1	0	0	0	12697	1464	51	3	1637	3	PSD3	8	18725224	Missense_Mutation	SNP	T	TCGA-E1-5318-01A-01D-1468-08		18725224	127638798	14	23095											
KCNU1	157855	broad.mit.edu	37	8	36671795	36671795	+	Missense_Mutation	SNP	A	A	G			TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chr8:36671795A>G	ENST00000399881.3	+	8	840	c.803A>G	c.(802-804)tAc>tGc	p.Y268C		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	268						voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		GAGTCAATTTACCTGGTCATG	0.433													8	61					0	0	1	0	0	G	36671795	A	G	36671795	3	3	160	1	0	0	0	0	1	0	0	0	8137	391	14	3	833	3	KCNU1	8	36671795	Missense_Mutation	SNP	A	TCGA-E1-5318-01A-01D-1468-08	17946571	36671795	109692227	15	23096											
KLHL9	55958	broad.mit.edu	37	9	21333865	21333865	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chr9:21333865G>A	ENST00000359039.4	-	1	1514	c.994C>T	c.(994-996)Cca>Tca	p.P332S	KLHL9_ENST00000537938.1_Missense_Mutation_p.P264S			Q9P2J3	KLHL9_HUMAN	kelch-like family member 9	332					cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex|midbody				endometrium(9)|large_intestine(7)|lung(10)|ovary(4)|skin(2)	32				Lung(24;8.52e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.118)		GCATCCATTGGGGCTAAAGAT	0.418													84	133					0	0	1	0	0	A	21333865	G	A	21333865	3	1	160	1	0	0	0	0	1	0	0	0	8439	1232	43	2	863	2	KLHL9	9	21333865	Missense_Mutation	SNP	G	TCGA-E1-5318-01A-01D-1468-08		21333865	119879566	16	23097											
SIT1	27240	broad.mit.edu	37	9	35650242	35650242	+	Splice_Site	SNP	C	C	T			TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chr9:35650242C>T	ENST00000259608.3	-	4	382	c.296G>A	c.(295-297)gGa>gAa	p.G99E	SIT1_ENST00000474403.1_5'UTR	NM_014450.2	NP_055265.1	Q9Y3P8	SIT1_HUMAN	signaling threshold regulating transmembrane adaptor 1	99					regulation of T cell activation|signal transduction	integral to plasma membrane	kinase binding|SH2 domain binding			endometrium(2)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	9			Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			AGACAGCCGTCCTGGGACGGG	0.627													52	75					0	0	1	0	0	T	35650242	C	T	35650242	5	4	160	1	0	0	0	0	0	0	1	0	14399	869	30	2	302	2	SIT1	9	35650242	Splice_Site	SNP	C	TCGA-E1-5318-01A-01D-1468-08	14316377	35650242	105563189	17	23098											
KNDC1	85442	broad.mit.edu	37	10	135038195	135038195	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chr10:135038195C>T	ENST00000304613.3	+	30	5072	c.5051C>T	c.(5050-5052)gCg>gTg	p.A1684V	KNDC1_ENST00000368572.2_Missense_Mutation_p.A1686V			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	1684	Ras-GEF.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction					NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		CAGGTGCACGCGTTCCAGGAG	0.597													23	51					0	0	1	0	0	T	135038195	C	T	135038195	3	4	160	1	0	0	0	0	1	0	0	0	8469	768	27	1	5169	1	KNDC1	10	135038195	Missense_Mutation	SNP	C	TCGA-E1-5318-01A-01D-1468-08		135038195	496552	18	23099											
OR52B6	340980	broad.mit.edu	37	11	5602864	5602864	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chr11:5602864G>A	ENST00000345043.2	+	1	758	c.758G>A	c.(757-759)cGc>cAc	p.R253H	HBG2_ENST00000380259.2_Intron|AC015691.13_ENST00000394793.2_RNA	NM_001005162.2	NP_001005162.2	Q8NGF0	O52B6_HUMAN	olfactory receptor, family 52, subfamily B, member 6	253					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)	12		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;3.56e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAAGATGCCCGCTCCAAGGCC	0.507													37	307					0	0	1	0	0	A	5602864	G	A	5602864	3	1	160	1	0	0	0	0	1	0	0	0	11161	1087	38	1	760	1	OR52B6	11	5602864	Missense_Mutation	SNP	G	TCGA-E1-5318-01A-01D-1468-08		5602864	129403652	19	23100											
OR4D10	390197	broad.mit.edu	37	11	59245574	59245574	+	Missense_Mutation	SNP	A	A	T			TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chr11:59245574A>T	ENST00000530162.1	+	1	729	c.672A>T	c.(670-672)ttA>ttT	p.L224F		NM_001004705.1	NP_001004705.1	Q8NGI6	OR4DA_HUMAN	olfactory receptor, family 4, subfamily D, member 10	224					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TATTATCATTACCCAAGTCTC	0.478													5	160					0	0	1	0	0	T	59245574	A	T	59245574	3	4	160	1	0	0	0	0	1	0	0	0	11102	388	14	5	674	5	OR4D10	11	59245574	Missense_Mutation	SNP	A	TCGA-E1-5318-01A-01D-1468-08	53642710	59245574	75760942	20	23101											
MS4A6E	245802	broad.mit.edu	37	11	60105367	60105367	+	Missense_Mutation	SNP	G	G	T			TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chr11:60105367G>T	ENST00000300182.4	+	2	366	c.301G>T	c.(301-303)Gat>Tat	p.D101Y		NM_139249.2	NP_640342.1	Q96DS6	M4A6E_HUMAN	membrane-spanning 4-domains, subfamily A, member 6E	101						integral to membrane	receptor activity			endometrium(2)|kidney(1)|lung(9)|stomach(1)	13						TCTTTCTTATGATTATCATTC	0.403													13	185					1	1	1	1	0	T	60105367	G	T	60105367	3	4	160	1	0	0	0	0	1	0	0	0	9914	1290	45	5	307	5	MS4A6E	11	60105367	Missense_Mutation	SNP	G	TCGA-E1-5318-01A-01D-1468-08	859793	60105367	74901149	21	23102											
AHNAK	79026	broad.mit.edu	37	11	62299210	62299210	+	Silent	SNP	C	C	T			TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chr11:62299210C>T	ENST00000378024.4	-	5	2953	c.2679G>A	c.(2677-2679)gaG>gaA	p.E893E	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	893					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CTTCTGGGCCCTCTGCTTTGA	0.517													256	310					0	0	1	0	0	T	62299210	C	T	62299210	2	4	160	1	0	0	0	0	0	0	0	1	411	680	24	2		2	AHNAK	11	62299210	Silent	SNP	C	TCGA-E1-5318-01A-01D-1468-08	2193843	62299210	72707306	22	23103											
CWF19L2	143884	broad.mit.edu	37	11	107224323	107224323	+	Missense_Mutation	SNP	T	T	C			TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chr11:107224323T>C	ENST00000282251.5	-	13	2039	c.2012A>G	c.(2011-2013)cAa>cGa	p.Q671R	CWF19L2_ENST00000433523.1_Missense_Mutation_p.Q671R	NM_152434.2	NP_689647.2	Q2TBE0	C19L2_HUMAN	CWF19-like 2, cell cycle control (S. pombe)	671							catalytic activity			endometrium(4)|kidney(2)|large_intestine(13)|lung(21)	40		Melanoma(852;1.75e-05)|all_epithelial(67;6.27e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258)		Epithelial(105;7.18e-06)|BRCA - Breast invasive adenocarcinoma(274;1.65e-05)|all cancers(92;1.76e-05)		TTTTTCCATTTGTGCAGCAAG	0.393													50	75					0	0	1	0	0	C	107224323	T	C	107224323	3	2	160	1	0	0	0	0	1	0	0	0	4095	1812	63	3	696	3	CWF19L2	11	107224323	Missense_Mutation	SNP	T	TCGA-E1-5318-01A-01D-1468-08	44925113	107224323	27782193	23	23104											
DSCAML1	57453	broad.mit.edu	37	11	117308781	117308781	+	Nonsense_Mutation	SNP	G	G	T			TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chr11:117308781G>T	ENST00000321322.6	-	25	4443	c.4442C>A	c.(4441-4443)tCg>tAg	p.S1481*	DSCAML1_ENST00000527706.1_Nonsense_Mutation_p.S1211*	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1421	Fibronectin type-III 6.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		GTTGTCCACCGAGTACTGTAG	0.612													3	62					1	1	1	1	0	T	117308781	G	T	117308781	4	4	160	1	0	0	0	0	0	1	0	0	4795	1059	37	5	1935	5	DSCAML1	11	117308781	Nonsense_Mutation	SNP	G	TCGA-E1-5318-01A-01D-1468-08	10084458	117308781	17697735	24	23105											
KSR2	283455	broad.mit.edu	37	12	118016978	118016978	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chr12:118016978G>A	ENST00000425217.1	-	7	1238	c.1184C>T	c.(1183-1185)aCg>aTg	p.T395M	KSR2_ENST00000339824.5_Missense_Mutation_p.T424M|KSR2_ENST00000302438.5_Missense_Mutation_p.T121M|KSR2_ENST00000545002.1_5'UTR	NM_173598.4	NP_775869.3	Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	424					intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GACTGTGCACGTCTGAGACAT	0.468													7	41					0	0	1	0	0	A	118016978	G	A	118016978	3	1	160	1	0	0	0	0	1	0	0	0	8621	1145	40	1	1637	1	KSR2	12	118016978	Missense_Mutation	SNP	G	TCGA-E1-5318-01A-01D-1468-08		118016978	15834917	25	23106											
LMO7	4008	broad.mit.edu	37	13	76382215	76382215	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chr13:76382215G>A	ENST00000357063.3	+	11	3212	c.1952G>A	c.(1951-1953)gGa>gAa	p.G651E	LMO7_ENST00000321797.8_Missense_Mutation_p.G366E|LMO7_ENST00000526202.1_Intron|LMO7_ENST00000377534.3_Missense_Mutation_p.G651E|LMO7_ENST00000341547.4_Intron|LMO7_ENST00000465261.2_Missense_Mutation_p.G366E			Q8WWI1	LMO7_HUMAN	LIM domain 7	651						cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		TGGAAACTGGGAACTACCGTG	0.498													25	54					0	0	1	0	0	A	76382215	G	A	76382215	3	1	160	1	0	0	0	0	1	0	0	0	8896	1174	41	2	1994	2	LMO7	13	76382215	Missense_Mutation	SNP	G	TCGA-E1-5318-01A-01D-1468-08		76382215	38787663	26	23107											
CYP1A1	1543	broad.mit.edu	37	15	75012968	75012968	+	Silent	SNP	G	G	C			TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chr15:75012968G>C	ENST00000379727.3	-	7	1599	c.1401C>G	c.(1399-1401)gtC>gtG	p.V467V	CYP1A1_ENST00000395049.4_Silent_p.V438V|CYP1A1_ENST00000395048.2_Silent_p.V467V|CYP1A1_ENST00000567032.1_Silent_p.V467V			P04798	CP1A1_HUMAN	cytochrome P450, family 1, subfamily A, polypeptide 1	467					cellular lipid metabolic process|drug metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding|vitamin D 24-hydroxylase activity			autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(7)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34					Arsenic trioxide(DB01169)|Benzphetamine(DB00865)|Bleomycin(DB00290)|Chlorzoxazone(DB00356)|Dacarbazine(DB00851)|Dactinomycin(DB00970)|Esomeprazole(DB00736)|Estrone(DB00655)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Ginseng(DB01404)|Granisetron(DB00889)|Ketoconazole(DB01026)|Menadione(DB00170)|Picrotoxin(DB00466)|Primaquine(DB01087)|Quinidine(DB00908)|Quinine(DB00468)|Thiabendazole(DB00730)	GGAAGAGAAAGACCTCCCAGC	0.542									Endometrial Cancer, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia				35	138					0	0	1	0	0	C	75012968	G	C	75012968	2	2	160	1	0	0	0	0	0	0	0	1	4172	929	33	4		4	CYP1A1	15	75012968	Silent	SNP	G	TCGA-E1-5318-01A-01D-1468-08		75012968	27518424	27	23108											
IDH2	3418	broad.mit.edu	37	15	90631838	90631838	+	Missense_Mutation	SNP	C	C	A	rs121913503		TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chr15:90631838C>A	ENST00000330062.3	-	4	628	c.515G>T	c.(514-516)aGg>aTg	p.R172M	IDH2_ENST00000559482.1_Intron|IDH2_ENST00000539790.1_Missense_Mutation_p.R42M|IDH2_ENST00000540499.2_Missense_Mutation_p.R120M	NM_002168.2	NP_002159.2	P48735	IDHP_HUMAN	isocitrate dehydrogenase 2 (NADP+), mitochondrial	172					2-oxoglutarate metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding	p.R172K(116)|p.R172M(21)|p.R172N(1)		biliary_tract(11)|bone(19)|central_nervous_system(107)|endometrium(1)|haematopoietic_and_lymphoid_tissue(953)|large_intestine(8)|lung(5)|skin(5)	1109	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.106)			ATGGGCGTGCCTGCCAATGGT	0.632			M		GBM								63	76					7.05995e-25	8.52063e-25	1	1	0	A	90631838	C	A	90631838	3	1	160	1	0	0	0	0	1	0	0	0	7539	681	24	4	875	4	IDH2	15	90631838	Missense_Mutation	SNP	C	TCGA-E1-5318-01A-01D-1468-08	15618870	90631838	11899554	28	23109											
CDH5	1003	broad.mit.edu	37	16	66436644	66436644	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chr16:66436644G>A	ENST00000341529.3	+	12	2075	c.1927G>A	c.(1927-1929)Gtc>Atc	p.V643I	CDH5_ENST00000539168.1_Missense_Mutation_p.V82I	NM_001795.3	NP_001786.2	P33151	CADH5_HUMAN	cadherin 5, type 2 (vascular endothelium)	643					adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity	integral to membrane|membrane fraction	beta-catenin binding|calcium ion binding|ion channel binding|receptor binding			central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54		Ovarian(137;0.0955)		OV - Ovarian serous cystadenocarcinoma(108;0.107)		CGAGCAGCTGGTCACCTACGA	0.711													5	16					0	0	1	0	0	A	66436644	G	A	66436644	3	1	160	1	0	0	0	0	1	0	0	0	3135	1261	44	2	1969	2	CDH5	16	66436644	Missense_Mutation	SNP	G	TCGA-E1-5318-01A-01D-1468-08		66436644	23918109	29	23110											
KRT33B	3884	broad.mit.edu	37	17	39521763	39521763	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chr17:39521763C>T	ENST00000251646.3	-	4	680	c.631G>A	c.(631-633)Gtg>Atg	p.V211M		NM_002279.4	NP_002270.1	Q14525	KT33B_HUMAN	keratin 33B	211	Linker 12.|Rod.					intermediate filament	protein binding|structural molecule activity			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(6)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000496)				TCCACCTCCACGTTGAGGCGG	0.522													26	35					0	0	1	0	0	T	39521763	C	T	39521763	3	4	160	1	0	0	0	0	1	0	0	0	8513	536	19	1	599	1	KRT33B	17	39521763	Missense_Mutation	SNP	C	TCGA-E1-5318-01A-01D-1468-08		39521763	41673447	30	23111											
EMILIN2	84034	broad.mit.edu	37	18	2913224	2913224	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chr18:2913224C>T	ENST00000254528.3	+	8	3143	c.2984C>T	c.(2983-2985)cCt>cTt	p.P995L	EMILIN2_ENST00000308080.5_3'UTR	NM_032048.2	NP_114437.2	Q9BXX0	EMIL2_HUMAN	elastin microfibril interfacer 2	995	C1q.				cell adhesion	collagen	extracellular matrix constituent conferring elasticity|protein binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4)	48				READ - Rectum adenocarcinoma(2;0.1)		TACCACCGCCCTCCAGGAGCT	0.632													4	75					0	0	1	0	0	T	2913224	C	T	2913224	3	4	160	1	0	0	0	0	1	0	0	0	5122	681	24	2	3014	2	EMILIN2	18	2913224	Missense_Mutation	SNP	C	TCGA-E1-5318-01A-01D-1468-08		2913224	75164024	31	23112											
ELL	8178	broad.mit.edu	37	19	18557617	18557617	+	Silent	SNP	G	G	A	rs73923115	byFrequency	TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chr19:18557617G>A	ENST00000262809.4	-	9	1544	c.1473C>T	c.(1471-1473)aaC>aaT	p.N491N	ELL_ENST00000596124.3_Silent_p.N358N	NM_006532.3	NP_006523.1	P55199	ELL_HUMAN	elongation factor RNA polymerase II	491					positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	Cajal body|nuclear speck|transcription elongation factor complex	protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(5)|prostate(1)	19				GBM - Glioblastoma multiforme(1328;7.81e-07)		TGCAGGTTCCGTTTAAACCTA	0.572			T	MLL	AL								13	50					0	0	1	0	0	A	18557617	G	A	18557617	2	1	160	1	0	0	0	0	0	0	0	1	5090	1136	40	1		1	ELL	19	18557617	Silent	SNP	G	TCGA-E1-5318-01A-01D-1468-08		18557617	40571366	32	23113											
PRODH2	58510	broad.mit.edu	37	19	36302867	36302867	+	Silent	SNP	C	C	T			TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chr19:36302867C>T	ENST00000301175.3	-	5	839	c.822G>A	c.(820-822)ggG>ggA	p.G274G		NM_021232.1	NP_067055.1	Q9UF12	PROD2_HUMAN	proline dehydrogenase (oxidase) 2	274					glutamate biosynthetic process|proline catabolic process		proline dehydrogenase activity			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TCCTTACCTGCCCAGAGTCCA	0.597													23	13					0	0	1	0	0	T	36302867	C	T	36302867	2	4	160	1	0	0	0	0	0	0	0	1	12601	726	26	2		2	PRODH2	19	36302867	Silent	SNP	C	TCGA-E1-5318-01A-01D-1468-08	17745250	36302867	22826116	33	23114											
CIC	23152	broad.mit.edu	37	19	42795241	42795242	+	Frame_Shift_Ins	INS	-	-	GCCCCCT			TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chr19:42795241_42795242insGCCCCCT	ENST00000572681.2	+	11	5116_5117	c.5048_5049insGCCCCCT	c.(5047-5052)gcgcccfs	p.-1686fs	CIC_ENST00000575354.2_Frame_Shift_Ins_p.-777fs|CIC_ENST00000160740.3_Frame_Shift_Ins_p.-777fs			Q96RK0	CIC_HUMAN	capicua transcriptional repressor						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				GGGGCCCCTGCGCCCCCTGCTG	0.698			"Mis, F, S"		oligodendroglioma								10	27	---	---	---	---						GCCCCCT	42795242	-	GCCCCCT	42795241	7	5	160	1	0	1	1	0	0	0	0	0	3446	768	27	0	2359	0	CIC	19	42795241	Frame_Shift_Ins	INS	-	TCGA-E1-5318-01A-01D-1468-08	6492374	42795241	16333742	34	23115											
KLK4	9622	broad.mit.edu	37	19	51411835	51411835	+	Splice_Site	SNP	C	C	T			TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chr19:51411835C>T	ENST00000324041.1	-	3	474	c.475G>A	c.(475-477)Ggc>Agc	p.G159S	KLK4_ENST00000431178.2_Splice_Site_p.G110R	NM_004917.3	NP_004908.3	Q9Y5K2	KLK4_HUMAN	kallikrein-related peptidase 4	159	Peptidase S1.		G -> D (in dbSNP:rs34626614).		proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(8)	19		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00624)|GBM - Glioblastoma multiforme(134;0.00878)		GTGAGCTCACCGTTCGCCAGC	0.637													8	75					0	0	1	0	0	T	51411835	C	T	51411835	5	4	160	1	0	0	0	0	0	0	1	0	8449	666	23	1	301	1	KLK4	19	51411835	Splice_Site	SNP	C	TCGA-E1-5318-01A-01D-1468-08	8616594	51411835	7717148	35	23116											
BRWD1	54014	broad.mit.edu	37	21	40590181	40590181	+	Missense_Mutation	SNP	C	C	T	rs75547980		TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chr21:40590181C>T	ENST00000342449.3	-	31	3634	c.3556G>A	c.(3556-3558)Gca>Aca	p.A1186T	BRWD1_ENST00000333229.2_Missense_Mutation_p.A1186T|BRWD1-IT1_ENST00000435608.1_RNA|BRWD1_ENST00000380800.3_Missense_Mutation_p.A1186T	NM_033656.3	NP_387505.1	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	1186	Bromo 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				ACAGGGCCTGCAAAAGCTGCT	0.368													23	136					0	0	1	0	0	T	40590181	C	T	40590181	3	4	160	1	0	0	0	0	1	0	0	0	1527	710	25	2	3693	2	BRWD1	21	40590181	Missense_Mutation	SNP	C	TCGA-E1-5318-01A-01D-1468-08		40590181	7539714	36	23117											
ARSE	415	broad.mit.edu	37	X	2867631	2867631	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chrX:2867631G>A	ENST00000545496.1	-	7	934	c.643C>T	c.(643-645)Cgt>Tgt	p.R215C	ARSE_ENST00000381134.3_Missense_Mutation_p.R190C|ARSE_ENST00000540563.1_Missense_Mutation_p.R145C	NM_001282628.1	NP_001269557.1	P51690	ARSE_HUMAN	arylsulfatase E (chondrodysplasia punctata 1)	190					skeletal system development	Golgi stack	arylsulfatase activity|metal ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				AGGTTGACACGCTTCTCTGAG	0.527													7	70					0	0	1	0	0	A	2867631	G	A	2867631	3	1	160	1	0	0	0	0	1	0	0	0	989	1087	38	1	1225	1	ARSE	23	2867631	Missense_Mutation	SNP	G	TCGA-E1-5318-01A-01D-1468-08		2867631	152402929	37	23118											
PDHA1	5160	broad.mit.edu	37	X	19368118	19368118	+	Missense_Mutation	SNP	G	G	C			TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chrX:19368118G>C	ENST00000379806.5	+	4	440	c.295G>C	c.(295-297)Ggg>Cgg	p.G99R	PDHA1_ENST00000545074.1_Missense_Mutation_p.G61R|PDHA1_ENST00000540249.1_Missense_Mutation_p.G61R|PDHA1_ENST00000379805.3_Missense_Mutation_p.G61R|PDHA1_ENST00000422285.2_Missense_Mutation_p.G61R	NM_001173454.1	NP_001166925.1	P08559	ODPA_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 1	61					glycolysis|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	protein binding|pyruvate dehydrogenase (acetyl-transferring) activity			endometrium(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)	18	Hepatocellular(33;0.183)				NADH(DB00157)	CAGGGAGGATGGGCTCAAATA	0.453													74	95					0	0	1	0	0	C	19368118	G	C	19368118	3	2	160	1	0	0	0	0	1	0	0	0	11711	1348	47	5	309	5	PDHA1	23	19368118	Missense_Mutation	SNP	G	TCGA-E1-5318-01A-01D-1468-08	16500487	19368118	135902442	38	23119											
MAGEB2	4113	broad.mit.edu	37	X	30237371	30237371	+	Missense_Mutation	SNP	A	A	T			TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chrX:30237371A>T	ENST00000378988.4	+	2	775	c.674A>T	c.(673-675)gAa>gTa	p.E225V		NM_002364.4	NP_002355.2	O15479	MAGB2_HUMAN	melanoma antigen family B, 2	225	MAGE.						protein binding			breast(1)|large_intestine(3)|lung(17)|ovary(1)|skin(1)	23						GAGATCTGGGAATTCCTGAAT	0.483													14	59					0	0	1	0	0	T	30237371	A	T	30237371	3	4	160	1	0	0	0	0	1	0	0	0	9226	246	9	5	676	5	MAGEB2	23	30237371	Missense_Mutation	SNP	A	TCGA-E1-5318-01A-01D-1468-08	10869253	30237371	125033189	39	23120											
BCOR	54880	broad.mit.edu	37	X	39933875	39933875	+	Frame_Shift_Del	DEL	C	C	-			TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chrX:39933875delC	ENST00000342274.4	-	4	1086	c.724delG	c.(724-726)gagfs	p.E242fs	BCOR_ENST00000378444.4_Frame_Shift_Del_p.E242fs|BCOR_ENST00000378455.4_Frame_Shift_Del_p.E242fs|BCOR_ENST00000397354.3_Frame_Shift_Del_p.E242fs	NM_001123383.1	NP_001116855.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	242					heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						AGAAAGCGCTCCCCATTGGTG	0.577			"F, N, S, T"	RARA	"retinoblastoma, AML, APL(translocation)"		oculo-facio-cardio-dental genetic						42	68	---	---	---	---						-	39933875	C	-	39933875	7	5	160	1	0	1	0	1	0	0	0	0	1384	864	30	0	4591	0	BCOR	23	39933875	Frame_Shift_Del	DEL	C	TCGA-E1-5318-01A-01D-1468-08	9696504	39933875	115336685	40	23121											
NLGN3	54413	broad.mit.edu	37	X	70387552	70387552	+	Missense_Mutation	SNP	G	G	T			TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chrX:70387552G>T	ENST00000374051.3	+	6	1867	c.1545G>T	c.(1543-1545)atG>atT	p.M515I	NLGN3_ENST00000476589.1_3'UTR|NLGN3_ENST00000358741.3_Missense_Mutation_p.M535I|NLGN3_ENST00000536169.1_Missense_Mutation_p.M495I	NM_018977.3	NP_061850.2	Q9NZ94	NLGN3_HUMAN	neuroligin 3	535					neuron cell-cell adhesion|positive regulation of synaptogenesis|receptor-mediated endocytosis|social behavior|synapse assembly	cell surface|endocytic vesicle|integral to plasma membrane|synapse	neurexin binding|receptor activity			biliary_tract(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	37	Renal(35;0.156)					GGGTTCCTATGGTAGGCCCCA	0.498													11	269					1.08611e-07	1.24635e-07	1	1	0	T	70387552	G	T	70387552	3	4	160	1	0	0	0	0	1	0	0	0	10510	1348	47	5	1627	5	NLGN3	23	70387552	Missense_Mutation	SNP	G	TCGA-E1-5318-01A-01D-1468-08	30453677	70387552	84883008	41	23122											
ATP7A	538	broad.mit.edu	37	X	77301816	77301816	+	Missense_Mutation	SNP	T	T	G			TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chrX:77301816T>G	ENST00000341514.6	+	23	4407	c.4252T>G	c.(4252-4254)Tat>Gat	p.Y1418D	ATP7A_ENST00000343533.5_Missense_Mutation_p.Y1340D|ATP7A_ENST00000350425.4_Missense_Mutation_p.Y421D	NM_000052.5	NP_000043.4	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	1418					ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53						TTACGAGAGTTATGAACTGCC	0.413													15	343					0	0	1	0	0	G	77301816	T	G	77301816	3	3	160	1	0	0	0	0	1	0	0	0	1188	1754	61	5	4338	5	ATP7A	23	77301816	Missense_Mutation	SNP	T	TCGA-E1-5318-01A-01D-1468-08	6914264	77301816	77968744	42	23123											
PGRMC1	10857	broad.mit.edu	37	X	118370561	118370561	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chrX:118370561C>T	ENST00000217971.7	+	1	346	c.235C>T	c.(235-237)Cgg>Tgg	p.R79W	PGRMC1_ENST00000535419.1_Missense_Mutation_p.R79W	NM_006667.3	NP_006658.1	O00264	PGRC1_HUMAN	progesterone receptor membrane component 1	79	Cytochrome b5 heme-binding.					cell surface|endoplasmic reticulum membrane|integral to membrane|microsome|nucleolus	heme binding|protein binding|receptor activity|steroid binding			lung(6)	6						CGCCGAGCTGCGGCGCTTCGA	0.711													10	20					0	0	1	0	0	T	118370561	C	T	118370561	3	4	160	1	0	0	0	0	1	0	0	0	11854	759	27	1	237	1	PGRMC1	23	118370561	Missense_Mutation	SNP	C	TCGA-E1-5318-01A-01D-1468-08	41068745	118370561	36899999	43	23124											
LAMP2	3920	broad.mit.edu	37	X	119581704	119581704	+	Nonsense_Mutation	SNP	G	G	A			TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chrX:119581704G>A	ENST00000371335.4	-	5	869	c.733C>T	c.(733-735)Cag>Tag	p.Q245*	LAMP2_ENST00000200639.4_Nonsense_Mutation_p.Q245*|LAMP2_ENST00000538785.1_Nonsense_Mutation_p.Q134*|LAMP2_ENST00000540603.1_Nonsense_Mutation_p.Q198*|LAMP2_ENST00000434600.2_Nonsense_Mutation_p.Q245*	NM_013995.2	NP_054701.1	P13473	LAMP2_HUMAN	lysosomal-associated membrane protein 2	245	Second lumenal domain.				platelet activation|platelet degranulation	endosome membrane|integral to membrane|late endosome|lysosomal membrane|membrane fraction|plasma membrane|platelet dense granule membrane				endometrium(4)|large_intestine(2)|lung(5)|ovary(2)|urinary_tract(2)	15						ACCTTATCCTGAGTGATGTTC	0.403													19	238					0	0	1	0	0	A	119581704	G	A	119581704	4	1	160	1	0	0	0	0	0	1	0	0	8657	1299	45	2	810	2	LAMP2	23	119581704	Nonsense_Mutation	SNP	G	TCGA-E1-5318-01A-01D-1468-08	1211143	119581704	35688856	44	23125											
FUBP1	8880	broad.mit.edu	37	1	78432577	78432577	+	Missense_Mutation	SNP	T	T	C			TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chr1:78432577T>C	ENST00000370767.1	-	6	493	c.406A>G	c.(406-408)Ata>Gta	p.I136V	FUBP1_ENST00000436586.2_Missense_Mutation_p.I157V|FUBP1_ENST00000370768.2_Missense_Mutation_p.I136V			Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1	136	KH 1.				transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						CCAGGAGCTATCTGTATTTTG	0.318			"F, N"		oligodendroglioma								18	22					0	0	0.001523	0	0	C	78432577	T	C	78432577	3	2	161	1	0	0	0	0	1	0	0	0	6127	1435	50	3	1588	3	FUBP1	1	78432577	Missense_Mutation	SNP	T	TCGA-E1-5319-01A-01D-1893-08		78432577	170818044	1	23126											
MARK1	4139	broad.mit.edu	37	1	220791711	220791711	+	Silent	SNP	T	T	C			TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chr1:220791711T>C	ENST00000402574.1	+	8	1209	c.207T>C	c.(205-207)agT>agC	p.S69S	MARK1_ENST00000366917.4_Silent_p.S204S|MARK1_ENST00000366918.4_Silent_p.S182S	NM_018650.3	NP_061120.3	Q9P0L2	MARK1_HUMAN	MAP/microtubule affinity-regulating kinase 1	204	Protein kinase.				intracellular protein kinase cascade	cytoplasm|microtubule cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1)	63				GBM - Glioblastoma multiforme(131;0.0407)		TTGGTTTTAGTAATGAATTTA	0.383													21	61					0	0	0.00278	0	0	C	220791711	T	C	220791711	2	2	161	1	0	0	0	0	0	0	0	1	9362	1635	57	3		3	MARK1	1	220791711	Silent	SNP	T	TCGA-E1-5319-01A-01D-1893-08	142359134	220791711	28458910	2	23127											
NCOA1	8648	broad.mit.edu	37	2	24952593	24952593	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chr2:24952593G>A	ENST00000405141.1	+	18	3821	c.3110G>A	c.(3109-3111)gGc>gAc	p.G1037D	NCOA1_ENST00000348332.3_Missense_Mutation_p.G1037D|NCOA1_ENST00000407230.1_Missense_Mutation_p.G886D|NCOA1_ENST00000395856.3_Missense_Mutation_p.G1037D|NCOA1_ENST00000288599.5_Missense_Mutation_p.G1037D|NCOA1_ENST00000538539.1_Missense_Mutation_p.G1037D|NCOA1_ENST00000406961.1_Missense_Mutation_p.G1037D			Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1	1037									PAX3/NCOA1(8)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	53	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCTGGCATGGGCATGCAGCCC	0.542			T	PAX3	alveolar rhadomyosarcoma								4	194					0	0	0.000248	0	0	A	24952593	G	A	24952593	3	1	161	1	0	0	0	0	1	0	0	0	10275	1203	42	2	3160	2	NCOA1	2	24952593	Missense_Mutation	SNP	G	TCGA-E1-5319-01A-01D-1893-08		24952593	218246780	3	23128											
SPTBN1	6711	broad.mit.edu	37	2	54876248	54876248	+	Missense_Mutation	SNP	A	A	G			TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chr2:54876248A>G	ENST00000333896.5	+	24	5469	c.5084A>G	c.(5083-5085)gAc>gGc	p.D1695G	SPTBN1_ENST00000356805.4_Missense_Mutation_p.D1708G	NM_178313.2	NP_842565.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	1708	Interaction with ANK2.				actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			CGGGAGGTGGACGACCTGGAG	0.542													3	100					0	0	0.000248	0	0	G	54876248	A	G	54876248	3	3	161	1	0	0	0	0	1	0	0	0	15175	275	10	3	5330	3	SPTBN1	2	54876248	Missense_Mutation	SNP	A	TCGA-E1-5319-01A-01D-1893-08	29923655	54876248	188323125	4	23129											
TET3	200424	broad.mit.edu	37	2	74300737	74300737	+	Silent	SNP	C	C	T			TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chr2:74300737C>T	ENST00000409262.3	+	2	2151	c.2151C>T	c.(2149-2151)gtC>gtT	p.V717V		NM_144993.1	NP_659430.1	O43151	TET3_HUMAN	tet methylcytosine dioxygenase 3	717							metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GCCCCACGGTCGCCTCTATCC	0.448													3	27					0	0	0.000248	0	0	T	74300737	C	T	74300737	2	4	161	1	0	0	0	0	0	0	0	1	15830	871	31	1		1	TET3	2	74300737	Silent	SNP	C	TCGA-E1-5319-01A-01D-1893-08	19424489	74300737	168898636	5	23130											
MBD5	55777	broad.mit.edu	37	2	149241058	149241058	+	Silent	SNP	C	C	T			TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chr2:149241058C>T	ENST00000404807.1	+	5	3027	c.2898C>T	c.(2896-2898)aaC>aaT	p.N966N	MBD5_ENST00000407073.1_Intron			Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	971						chromosome|nucleus	chromatin binding|DNA binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		CGAATGTAAACGCTGCTTTAG	0.473													9	43					0	0	0.004482	0	0	T	149241058	C	T	149241058	2	4	161	1	0	0	0	0	0	0	0	1	9397	551	19	1		1	MBD5	2	149241058	Silent	SNP	C	TCGA-E1-5319-01A-01D-1893-08	74940321	149241058	93958315	6	23131											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	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	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								27	45					0	0	0.001786	0	0	T	209113112	C	T	209113112	3	4	161	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-E1-5319-01A-01D-1893-08	59872054	209113112	34086261	7	23132											
MYH15	22989	broad.mit.edu	37	3	108172944	108172944	+	Missense_Mutation	SNP	C	C	G			TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chr3:108172944C>G	ENST00000273353.3	-	22	2424	c.2368G>C	c.(2368-2370)Gat>Cat	p.D790H		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	790	Myosin head-like.					myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						AGTCTCTCATCTCTTATTGCT	0.393													5	51					0	0	0.000602	0	0	G	108172944	C	G	108172944	3	3	161	1	0	0	0	0	1	0	0	0	10082	913	32	4	3556	4	MYH15	3	108172944	Missense_Mutation	SNP	C	TCGA-E1-5319-01A-01D-1893-08		108172944	89849486	8	23133											
SPSB4	92369	broad.mit.edu	37	3	140785590	140785590	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chr3:140785590C>T	ENST00000310546.2	+	2	1388	c.644C>T	c.(643-645)gCc>gTc	p.A215V		NM_080862.1	NP_543138.1	Q96A44	SPSB4_HUMAN	splA/ryanodine receptor domain and SOCS box containing 4	215	B30.2/SPRY.				intracellular signal transduction	cytoplasm	protein binding			biliary_tract(1)|large_intestine(1)|lung(1)|pancreas(1)	4						GTGGTGAGTGCCGTGTGGGGC	0.617													4	86					0	0	0.000602	0	0	T	140785590	C	T	140785590	3	4	161	1	0	0	0	0	1	0	0	0	15171	739	26	2	646	2	SPSB4	3	140785590	Missense_Mutation	SNP	C	TCGA-E1-5319-01A-01D-1893-08	32612646	140785590	57236840	9	23134											
SI	6476	broad.mit.edu	37	3	164767582	164767582	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chr3:164767582G>A	ENST00000264382.3	-	14	1656	c.1594C>T	c.(1594-1596)Cct>Tct	p.P532S		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	532	Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	ATTTTACCAGGAGTAAACGGT	0.264										HNSCC(35;0.089)			16	56					0	0	0.006122	0	0	A	164767582	G	A	164767582	3	1	161	1	0	0	0	0	1	0	0	0	14352	1174	41	2	4029	2	SI	3	164767582	Missense_Mutation	SNP	G	TCGA-E1-5319-01A-01D-1893-08	23981992	164767582	33254848	10	23135											
PDE6B	5158	broad.mit.edu	37	4	658702	658702	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chr4:658702C>T	ENST00000255622.6	+	18	2205	c.2162C>T	c.(2161-2163)gCc>gTc	p.A721V	PDE6B_ENST00000429163.2_Missense_Mutation_p.A442V|PDE6B_ENST00000496514.1_Missense_Mutation_p.A721V	NM_000283.3|NM_001145291.1	NP_000274.2|NP_001138763	P35913	PDE6B_HUMAN	phosphodiesterase 6B, cGMP-specific, rod, beta	721					cytosolic calcium ion homeostasis|GMP metabolic process|phototransduction, visible light|platelet activation|visual perception	cytosol|membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30						GACCTGTCTGCCATCACCAAG	0.602													4	99					0	0	0.000602	0	0	T	658702	C	T	658702	3	4	161	1	0	0	0	0	1	0	0	0	11693	739	26	2	2232	2	PDE6B	4	658702	Missense_Mutation	SNP	C	TCGA-E1-5319-01A-01D-1893-08		658702	190495574	11	23136											
YTHDC1	91746	broad.mit.edu	37	4	69179953	69179953	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chr4:69179953C>T	ENST00000344157.4	-	17	2383	c.2048G>A	c.(2047-2049)cGg>cAg	p.R683Q	YTHDC1_ENST00000355665.3_Missense_Mutation_p.R665Q|YTHDC1_ENST00000579690.1_Missense_Mutation_p.R691Q	NM_001031732.2	NP_001026902.1	Q96MU7	YTDC1_HUMAN	YTH domain containing 1	683	Arg-rich.									NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	30						ctctcgttcccggtctctttc	0.493													15	21					0	0	0.00245	0	0	T	69179953	C	T	69179953	3	4	161	1	0	0	0	0	1	0	0	0	17556	652	23	1	139	1	YTHDC1	4	69179953	Missense_Mutation	SNP	C	TCGA-E1-5319-01A-01D-1893-08	68521251	69179953	121974323	12	23137											
BTNL3	10917	broad.mit.edu	37	5	180420089	180420089	+	Missense_Mutation	SNP	T	T	A			TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chr5:180420089T>A	ENST00000342868.6	+	2	510	c.326T>A	c.(325-327)aTc>aAc	p.I109N		NM_197975.2	NP_932079.1	Q6UXE8	BTNL3_HUMAN	butyrophilin-like 3	109					lipid metabolic process	integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(10)|prostate(2)|skin(1)	25	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.00336)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)|all_lung(500;0.248)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000272)			CCCTCGGACATCGGCCTGTAT	0.522													13	2					0	0	0.001855	0	0	A	180420089	T	A	180420089	3	1	161	1	0	0	0	0	1	0	0	0	1569	1435	50	4	332	4	BTNL3	5	180420089	Missense_Mutation	SNP	T	TCGA-E1-5319-01A-01D-1893-08		180420089	495171	13	23138											
SYNGAP1	8831	broad.mit.edu	37	6	33405883	33405883	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chr6:33405883C>T	ENST00000418600.2	+	8	1302	c.1201C>T	c.(1201-1203)Cgg>Tgg	p.R401W	SYNGAP1_ENST00000428982.2_Missense_Mutation_p.R342W|SYNGAP1_ENST00000496374.1_3'UTR|SYNGAP1_ENST00000293748.5_Missense_Mutation_p.R401W	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1	401					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|SH3 domain binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						CCCGGCTGTGCGGCTGAAAGC	0.592													22	163					0	0	0.00333	0	0	T	33405883	C	T	33405883	3	4	161	1	0	0	0	0	1	0	0	0	15504	759	27	1	1231	1	SYNGAP1	6	33405883	Missense_Mutation	SNP	C	TCGA-E1-5319-01A-01D-1893-08		33405883	137709184	14	23139											
SYNE1	23345	broad.mit.edu	37	6	152831491	152831491	+	Missense_Mutation	SNP	T	T	C			TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chr6:152831491T>C	ENST00000367255.5	-	8	1019	c.418A>G	c.(418-420)Agc>Ggc	p.S140G	SYNE1_ENST00000466159.2_Missense_Mutation_p.S140G|SYNE1_ENST00000265368.4_Missense_Mutation_p.S140G|SYNE1_ENST00000413186.2_Missense_Mutation_p.S140G|SYNE1_ENST00000341594.5_Missense_Mutation_p.S140G|SYNE1_ENST00000448038.1_Missense_Mutation_p.S147G|SYNE1_ENST00000367248.3_Missense_Mutation_p.S147G|SYNE1_ENST00000423061.1_Missense_Mutation_p.S147G|SYNE1_ENST00000367253.4_Missense_Mutation_p.S140G	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	140	Actin-binding.				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GGCAGGTTGCTGGTCAACTCT	0.448										HNSCC(10;0.0054)			32	43					0	0	0.002836	0	0	C	152831491	T	C	152831491	3	2	161	1	0	0	0	0	1	0	0	0	15502	1580	55	3	26604	3	SYNE1	6	152831491	Missense_Mutation	SNP	T	TCGA-E1-5319-01A-01D-1893-08	119425608	152831491	18283576	15	23140											
SYNJ2	8871	broad.mit.edu	37	6	158504625	158504627	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chr6:158504625_158504627delAGA	ENST00000355585.4	+	21	3105_3107	c.3030_3032delAGA	c.(3028-3033)tcagaa>tca	p.E1011del	SYNJ2_ENST00000367112.1_In_Frame_Del_p.E96del|SYNJ2_ENST00000367121.3_In_Frame_Del_p.E1011del|SYNJ2_ENST00000367122.2_In_Frame_Del_p.E1011del	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	1011							nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		ACTATGAGTCAGAAGGTTAGTGA	0.517													33	143	---	---	---	---						-	158504627	AGA	-	158504625	7	5	161	1	0	1	0	1	0	0	0	0	15510	175	7	0	3112	0	SYNJ2	6	158504625	In_Frame_Del	DEL	AGA	TCGA-E1-5319-01A-01D-1893-08	5673134	158504625	12610442	16	23141											
ACTB	60	broad.mit.edu	37	7	5567674	5567676	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chr7:5567674_5567676delCTT	ENST00000331789.5	-	5	1134_1136	c.943_945delAAG	c.(943-945)aagdel	p.K315del	ACTB_ENST00000464611.1_5'UTR	NM_001101.3	NP_001092.1	P60709	ACTB_HUMAN	actin, beta	315					'de novo' posttranslational protein folding|adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement	cytoskeleton|cytosol|MLL5-L complex|NuA4 histone acetyltransferase complex|ribonucleoprotein complex	ATP binding|kinesin binding|nitric-oxide synthase binding|structural constituent of cytoskeleton			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(2)	8		Ovarian(82;0.0606)		UCEC - Uterine corpus endometrioid carcinoma (126;0.175)|OV - Ovarian serous cystadenocarcinoma(56;4.24e-37)		CAGTGATCTCCTTCTGCATCCTG	0.581													8	245	---	---	---	---						-	5567676	CTT	-	5567674	7	5	161	1	0	1	0	1	0	0	0	0	193	680	24	0	190	0	ACTB	7	5567674	In_Frame_Del	DEL	CTT	TCGA-E1-5319-01A-01D-1893-08		5567674	153570989	17	23142											
MGAM	8972	broad.mit.edu	37	7	141799485	141799485	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chr7:141799485C>T	ENST00000475668.2	+	67	7876	c.7822C>T	c.(7822-7824)Cgt>Tgt	p.R2608C	MGAM_ENST00000549489.2_Missense_Mutation_p.R1712C			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1712					polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TCTTCATGTCCGTGGGGGCTA	0.498													8	87					0	0	0.00308	0	0	T	141799485	C	T	141799485	3	4	161	1	0	0	0	0	1	0	0	0	9591	652	23	1	5304	1	MGAM	7	141799485	Missense_Mutation	SNP	C	TCGA-E1-5319-01A-01D-1893-08	136231811	141799485	17339178	18	23143											
SSPO	23145	broad.mit.edu	37	7	149486393	149486393	+	RNA	SNP	C	C	T	rs116737043	by1000genomes	TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chr7:149486393C>T	ENST00000378016.2	+	0	4369							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CCAGGGCTTGCTGGCCTGTGC	0.677													3	40					0	0	0.000248	0	0	T	149486393	C	T	149486393	1	4	161	0	1	0	0	0	0	0	0	0	15245	796	28	2		2	SSPO	7	149486393	RNA	SNP	C	TCGA-E1-5319-01A-01D-1893-08	7686908	149486393	9652270	19	23144											
CLN8	2055	broad.mit.edu	37	8	1728624	1728624	+	Missense_Mutation	SNP	A	A	C			TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chr8:1728624A>C	ENST00000331222.4	+	3	999	c.752A>C	c.(751-753)cAt>cCt	p.H251P	CLN8_ENST00000523237.1_3'UTR	NM_018941.3	NP_061764.2	Q9UBY8	CLN8_HUMAN	ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)	251	TLC.				cell death|ceramide biosynthetic process|cholesterol metabolic process|lipid transport|negative regulation of proteolysis|phospholipid metabolic process	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|integral to membrane				central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24		Ovarian(12;0.0563)|Colorectal(14;0.0815)|Hepatocellular(245;0.0831)		BRCA - Breast invasive adenocarcinoma(11;7.67e-05)|READ - Rectum adenocarcinoma(644;0.0913)		TATTGGACCCATAAGAAGACT	0.542													31	161					0	0	0.001786	0	0	C	1728624	A	C	1728624	3	2	161	1	0	0	0	0	1	0	0	0	3569	217	8	4	758	4	CLN8	8	1728624	Missense_Mutation	SNP	A	TCGA-E1-5319-01A-01D-1893-08		1728624	144635398	20	23145											
OR1L3	26735	broad.mit.edu	37	9	125437655	125437655	+	Missense_Mutation	SNP	G	G	A	rs142972365		TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chr9:125437655G>A	ENST00000304820.2	+	1	341	c.247G>A	c.(247-249)Gtg>Atg	p.V83M		NM_001005234.1	NP_001005234.1	Q8NH93	OR1L3_HUMAN	olfactory receptor, family 1, subfamily L, member 3	83					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	16						AAAGATGCTCGTGAACTTCTT	0.398													57	139					0	0	0.00361	0	0	A	125437655	G	A	125437655	3	1	161	1	0	0	0	0	1	0	0	0	11012	1145	40	1	249	1	OR1L3	9	125437655	Missense_Mutation	SNP	G	TCGA-E1-5319-01A-01D-1893-08		125437655	15775776	21	23146											
UCK1	83549	broad.mit.edu	37	9	134404915	134404915	+	Frame_Shift_Del	DEL	T	T	-			TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chr9:134404915delT	ENST00000372215.4	-	3	418	c.325delA	c.(325-327)acgfs	p.T109fs	UCK1_ENST00000459858.1_5'UTR|UCK1_ENST00000372210.3_Frame_Shift_Del_p.T100fs|UCK1_ENST00000372208.3_Frame_Shift_Del_p.T109fs|UCK1_ENST00000372211.3_Frame_Shift_Del_p.T114fs	NM_001261450.1|NM_001261451.1|NM_031432.2	NP_001248379.1|NP_001248380.1|NP_113620.1	Q9HA47	UCK1_HUMAN	uridine-cytidine kinase 1	109					pyrimidine base metabolic process|pyrimidine nucleoside salvage	cytosol	ATP binding|phosphotransferase activity, alcohol group as acceptor|uridine kinase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|skin(1)|upper_aerodigestive_tract(1)	6				OV - Ovarian serous cystadenocarcinoma(145;2.34e-05)|Epithelial(140;0.000219)		ACCTCCACCGTTTTGCCCTCC	0.557													47	116	---	---	---	---						-	134404915	T	-	134404915	7	5	161	1	0	1	0	1	0	0	0	0	16983	1725	60	0	528	0	UCK1	9	134404915	Frame_Shift_Del	DEL	T	TCGA-E1-5319-01A-01D-1893-08	8967260	134404915	6808516	22	23147											
CDH23	64072	broad.mit.edu	37	10	73453969	73453969	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chr10:73453969G>A	ENST00000224721.6	+	20	2262	c.2257G>A	c.(2257-2259)Gca>Aca	p.A753T	CDH23_ENST00000299366.7_Missense_Mutation_p.A793T	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	748	Cadherin 7.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						CATCGTTCGCGCAGTGGACGG	0.627													10	38					0	0	0.008291	0	0	A	73453969	G	A	73453969	3	1	161	1	0	0	0	0	1	0	0	0	3130	1087	38	1	2547	1	CDH23	10	73453969	Missense_Mutation	SNP	G	TCGA-E1-5319-01A-01D-1893-08		73453969	62080778	23	23148											
AGAP11	119385	broad.mit.edu	37	10	88767684	88767686	+	RNA	DEL	TCT	TCT	-	rs71019446		TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chr10:88767684_88767686delTCT	ENST00000444431.1	+	0	2711				RP11-96C23.5_ENST00000433214.2_RNA|RP11-96C23.14_ENST00000444180.3_RNA			Q8TF27	AGA11_HUMAN	ankyrin repeat and GTPase domain Arf GTPase activating protein 11						regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding										AGAAAATGTATCttttttttttt	0.414													4	2	---	---	---	---						-	88767686	TCT	-	88767684	6	5	161	0	1	1	0	1	0	0	0	0	366	1450	50	0		0	AGAP11	10	88767684	RNA	DEL	TCT	TCGA-E1-5319-01A-01D-1893-08	15313715	88767684	46767063	24	23149											
SLC22A8	9376	broad.mit.edu	37	11	62763251	62763251	+	Missense_Mutation	SNP	T	T	C			TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chr11:62763251T>C	ENST00000336232.2	-	7	1061	c.926A>G	c.(925-927)aAg>aGg	p.K309R	SLC22A8_ENST00000545207.1_Missense_Mutation_p.K218R|SLC22A8_ENST00000311438.8_Missense_Mutation_p.K309R|SLC22A8_ENST00000430500.2_Missense_Mutation_p.K309R|SLC22A8_ENST00000535878.1_Missense_Mutation_p.K186R	NM_001184732.1|NM_001184736.1|NM_004254.3	NP_001171661.1|NP_001171665.1|NP_004245.2	Q8TCC7	S22A8_HUMAN	solute carrier family 22 (organic anion transporter), member 8	309					response to toxin	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|organic anion transmembrane transporter activity			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28						GTACTTGGCCTTGGCCAAGGA	0.597													77	155					0	0	0.00361	0	0	C	62763251	T	C	62763251	3	2	161	1	0	0	0	0	1	0	0	0	14515	1609	56	3	722	3	SLC22A8	11	62763251	Missense_Mutation	SNP	T	TCGA-E1-5319-01A-01D-1893-08		62763251	72243265	25	23150											
RELT	84957	broad.mit.edu	37	11	73102213	73102213	+	Silent	SNP	C	C	T			TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chr11:73102213C>T	ENST00000064780.2	+	5	573	c.312C>T	c.(310-312)ccC>ccT	p.P104P	RELT_ENST00000393580.2_Silent_p.P104P	NM_152222.1	NP_689408.1	Q969Z4	TR19L_HUMAN	RELT tumor necrosis factor receptor	104						cytoplasm|integral to membrane|plasma membrane	binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	12						GGGGGGTTCCCCGCGTTCCAT	0.587													60	98					0	0	0.00361	0	0	T	73102213	C	T	73102213	2	4	161	1	0	0	0	0	0	0	0	1	13273	610	22	2		2	RELT	11	73102213	Silent	SNP	C	TCGA-E1-5319-01A-01D-1893-08	10338962	73102213	61904303	26	23151											
SYTL2	54843	broad.mit.edu	37	11	85420400	85420400	+	Silent	SNP	C	C	T			TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chr11:85420400C>T	ENST00000359152.5	-	6	4511	c.4512G>A	c.(4510-4512)gcG>gcA	p.A1504A	SYTL2_ENST00000533892.1_Silent_p.A60A|SYTL2_ENST00000524452.1_Silent_p.A634A|SYTL2_ENST00000527523.1_Silent_p.A626A|SYTL2_ENST00000389958.3_Silent_p.A89A|SYTL2_ENST00000525702.1_Silent_p.A100A|SYTL2_ENST00000354566.3_Silent_p.A996A|SYTL2_ENST00000525423.1_Silent_p.A980A|SYTL2_ENST00000528231.1_Silent_p.A658A|SYTL2_ENST00000316356.4_Silent_p.A659A|SYTL2_ENST00000389960.4_Silent_p.A634A|SYTL2_ENST00000529581.1_Silent_p.A100A	NM_206928.2	NP_996811.1	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2	658					intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		TTTTTACATCCGCTGCTGCTA	0.398													49	121					0	0	0.00361	0	0	T	85420400	C	T	85420400	2	4	161	1	0	0	0	0	0	0	0	1	15540	639	23	1		1	SYTL2	11	85420400	Silent	SNP	C	TCGA-E1-5319-01A-01D-1893-08	12318187	85420400	49586116	27	23152											
RDX	5962	broad.mit.edu	37	11	110104176	110104176	+	Missense_Mutation	SNP	T	T	C			TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chr11:110104176T>C	ENST00000343115.4	-	13	1692	c.1373A>G	c.(1372-1374)aAg>aGg	p.K458R	RDX_ENST00000528900.1_Missense_Mutation_p.K111R|RDX_ENST00000528498.1_Missense_Mutation_p.K458R|RDX_ENST00000544551.1_Missense_Mutation_p.K322R|RDX_ENST00000530301.1_Intron|RDX_ENST00000405097.1_Missense_Mutation_p.K458R	NM_001260494.1|NM_002906.3	NP_001247423.1|NP_002897.1	P35241	RADI_HUMAN	radixin	458	Glu-rich.				actin filament capping	cleavage furrow|cytoskeleton|extrinsic to membrane|Golgi apparatus|nucleolus|plasma membrane	actin binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	18		all_cancers(61;7.18e-13)|all_epithelial(67;2.61e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.13e-06)|BRCA - Breast invasive adenocarcinoma(274;9.75e-06)|all cancers(92;5.9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0248)		TTCTTTGGTCTTTTCCAAGTC	0.403													3	129					0	0	0.004672	0	0	C	110104176	T	C	110104176	3	2	161	1	0	0	0	0	1	0	0	0	13250	1609	56	3	386	3	RDX	11	110104176	Missense_Mutation	SNP	T	TCGA-E1-5319-01A-01D-1893-08	24683776	110104176	24902340	28	23153											
CD3D	915	broad.mit.edu	37	11	118211223	118211223	+	Silent	SNP	C	C	T			TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chr11:118211223C>T	ENST00000300692.4	-	2	277	c.141G>A	c.(139-141)acG>acA	p.T47T	CD3D_ENST00000392884.2_Silent_p.T47T|CD3D_ENST00000529594.1_Intron	NM_000732.4	NP_000723.1	P04234	CD3D_HUMAN	CD3d molecule, delta (CD3-TCR complex)	47					positive thymic T cell selection|T cell costimulation|T cell receptor signaling pathway	cytoplasm|integral to membrane	protein heterodimerization activity			large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	9	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.04e-05)		GTGTTCCCACCGTTCCCTCTA	0.458													16	46					0	0	0.007413	0	0	T	118211223	C	T	118211223	2	4	161	1	0	0	0	0	0	0	0	1	3032	639	23	1		1	CD3D	11	118211223	Silent	SNP	C	TCGA-E1-5319-01A-01D-1893-08	8107047	118211223	16795293	29	23154											
C11orf63	79864	broad.mit.edu	37	11	122774732	122774732	+	Silent	SNP	G	G	A			TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chr11:122774732G>A	ENST00000227349.2	+	3	741	c.444G>A	c.(442-444)ccG>ccA	p.P148P	C11orf63_ENST00000307257.6_Silent_p.P148P|C11orf63_ENST00000531316.1_Silent_p.P148P	NM_024806.2	NP_079082.2	Q6NUN7	CK063_HUMAN	chromosome 11 open reading frame 63	148										breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	47		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)		AAGCGTTGCCGGAGTCCACGG	0.532													62	117					0	0	0.00361	0	0	A	122774732	G	A	122774732	2	1	161	1	0	0	0	0	0	0	0	1	1659	1103	39	1		1	C11orf63	11	122774732	Silent	SNP	G	TCGA-E1-5319-01A-01D-1893-08	4563509	122774732	12231784	30	23155											
DDX11	1663	broad.mit.edu	37	12	31244796	31244796	+	Silent	SNP	C	C	T			TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chr12:31244796C>T	ENST00000407793.2	+	10	1484	c.1233C>T	c.(1231-1233)agC>agT	p.S411S	DDX11_ENST00000228264.6_Silent_p.S385S|DDX11_ENST00000542838.1_Silent_p.S411S|DDX11_ENST00000350437.4_Silent_p.S411S|DDX11_ENST00000545668.1_Silent_p.S411S|DDX11_ENST00000251758.5_3'UTR	NM_030653.3|NM_152438.1	NP_085911.2|NP_689651.1	Q96FC9	DDX11_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11	411	Helicase ATP-binding.				G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitotic sister chromatid segregation|positive regulation of cell proliferation|S phase of mitotic cell cycle|sister chromatid cohesion	midbody|nuclear chromatin|nucleolus|spindle pole	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|RNA binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	57	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					TGGAGGTCAGCGGCTCCCAGG	0.662										Multiple Myeloma(12;0.14)			4	106					0	0	0.000602	0	0	T	31244796	C	T	31244796	2	4	161	1	0	0	0	0	0	0	0	1	4366	767	27	1		1	DDX11	12	31244796	Silent	SNP	C	TCGA-E1-5319-01A-01D-1893-08		31244796	102607099	31	23156											
AGAP2	116986	broad.mit.edu	37	12	58126704	58126704	+	Silent	SNP	G	G	A			TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chr12:58126704G>A	ENST00000257897.3	-	6	685	c.600C>T	c.(598-600)tgC>tgT	p.C200C	AGAP2_ENST00000547588.1_Silent_p.C536C	NM_014770.3	NP_055585.1	Q99490	AGAP2_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 2	536	Interactions with HOMER1 and NF2 (By similarity).				axon guidance|negative regulation of neuron apoptosis|negative regulation of protein catabolic process|protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	mitochondrion|nucleolus	ARF GTPase activator activity|GTP binding|zinc ion binding			breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|large_intestine(7)|lung(20)|prostate(3)|skin(1)|stomach(1)	48						TCATGTCCGCGCACAGAGCTC	0.567													7	364					0	0	0.004482	0	0	A	58126704	G	A	58126704	2	1	161	1	0	0	0	0	0	0	0	1	367	1079	38	1		1	AGAP2	12	58126704	Silent	SNP	G	TCGA-E1-5319-01A-01D-1893-08	26881908	58126704	75725191	32	23157											
LRIG3	121227	broad.mit.edu	37	12	59272814	59272814	+	Silent	SNP	A	A	C			TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chr12:59272814A>C	ENST00000320743.3	-	14	2161	c.1875T>G	c.(1873-1875)gcT>gcG	p.A625A	LRIG3_ENST00000379141.4_Silent_p.A565A	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	leucine-rich repeats and immunoglobulin-like domains 3	625	Ig-like C2-type 2.					integral to membrane			LRIG3/ROS1(2)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48			GBM - Glioblastoma multiforme(1;1.17e-18)			GCCCCACAGCAGCACACTCCA	0.587			T	ROS1	NSCLC								13	39					0	0	0.001855	0	0	C	59272814	A	C	59272814	2	2	161	1	0	0	0	0	0	0	0	1	8991	175	7	5		5	LRIG3	12	59272814	Silent	SNP	A	TCGA-E1-5319-01A-01D-1893-08	1146110	59272814	74579081	33	23158											
COQ5	84274	broad.mit.edu	37	12	120966932	120966932	+	Missense_Mutation	SNP	C	C	A			TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chr12:120966932C>A	ENST00000288532.6	-	1	53	c.13G>T	c.(13-15)Ggg>Tgg	p.G5W	COQ5_ENST00000445328.2_Missense_Mutation_p.G5W	NM_032314.3	NP_115690.3	Q5HYK3	COQ5_HUMAN	coenzyme Q5 homolog, methyltransferase (S. cerevisiae)	5					ubiquinone biosynthetic process	mitochondrion	methyltransferase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(1)|prostate(1)|urinary_tract(3)	20	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GCACAGCTCCCGGGGGCCGCC	0.652													15	31					1.3612e-06	1.58807e-06	0.003163	1	0	A	120966932	C	A	120966932	3	1	161	1	0	0	0	0	1	0	0	0	3771	652	23	5	998	5	COQ5	12	120966932	Missense_Mutation	SNP	C	TCGA-E1-5319-01A-01D-1893-08	61694118	120966932	12884963	34	23159											
LRRC43	254050	broad.mit.edu	37	12	122677545	122677545	+	Frame_Shift_Del	DEL	C	C	-			TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chr12:122677545delC	ENST00000339777.4	+	7	1371	c.1343delC	c.(1342-1344)tccfs	p.S448fs	LRRC43_ENST00000425921.1_Frame_Shift_Del_p.S263fs	NM_152759.4	NP_689972.3	Q8N309	LRC43_HUMAN	leucine rich repeat containing 43	448										NS(1)|endometrium(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(2)	19	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225)		CTCTGCCCGTCCCCAGGGTAA	0.577													10	36	---	---	---	---						-	122677545	C	-	122677545	7	5	161	1	0	1	0	1	0	0	0	0	9046	855	30	0	1369	0	LRRC43	12	122677545	Frame_Shift_Del	DEL	C	TCGA-E1-5319-01A-01D-1893-08	1710613	122677545	11174350	35	23160											
HTR2A	3356	broad.mit.edu	37	13	47409749	47409750	+	Frame_Shift_Del	DEL	AA	AA	-	rs143289722		TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chr13:47409749_47409750delAA	ENST00000378688.4	-	3	769_770	c.638_639delTT	c.(637-639)tttfs	p.F213fs	HTR2A_ENST00000542664.1_Frame_Shift_Del_p.F213fs|HTR2A_ENST00000543956.1_Frame_Shift_Del_p.F129fs			P28223	5HT2A_HUMAN	5-hydroxytryptamine (serotonin) receptor 2A, G protein-coupled	213					ERK1 and ERK2 cascade|phosphatidylinositol 3-kinase cascade|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	integral to plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|serotonin binding|serotonin receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_lung(13;7.2e-10)|Lung NSC(96;3.77e-07)|Breast(56;2.06e-05)|Prostate(109;0.00116)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|Myeloproliferative disorder(33;0.0333)		GBM - Glioblastoma multiforme(144;4.67e-05)|COAD - Colon adenocarcinoma(199;0.224)	Aripiprazole(DB01238)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cisapride(DB00604)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyclobenzaprine(DB00924)|Cyproheptadine(DB00434)|Dihydroergotamine(DB00320)|Donepezil(DB00843)|Epinastine(DB00751)|Ergotamine(DB00696)|Fluvoxamine(DB00176)|Mesoridazine(DB00933)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Olanzapine(DB00334)|Paliperidone(DB01267)|Paroxetine(DB00715)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	CCTGTAGCCCAAAGACTGGTAT	0.396													22	86	---	---	---	---						-	47409750	AA	-	47409749	7	5	161	1	0	1	0	1	0	0	0	0	7485	127	5	0	780	0	HTR2A	13	47409749	Frame_Shift_Del	DEL	AA	TCGA-E1-5319-01A-01D-1893-08		47409749	67760129	36	23161											
IL21R	50615	broad.mit.edu	37	16	27448929	27448929	+	Silent	SNP	C	C	T			TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chr16:27448929C>T	ENST00000337929.3	+	4	746	c.273C>T	c.(271-273)gaC>gaT	p.D91D	IL21R_ENST00000564089.1_Silent_p.D91D|IL21R_ENST00000395754.4_Silent_p.D91D|IL21R_ENST00000395755.1_Silent_p.D91D	NM_181078.2	NP_851564.1	Q9HBE5	IL21R_HUMAN	interleukin 21 receptor	91					natural killer cell activation	integral to membrane	interleukin-21 receptor activity			breast(2)|large_intestine(3)|lung(1)|ovary(2)	8						TCATGGCCGACGACATTTTCA	0.572			T	BCL6	NHL								5	82					0	0	0.001168	0	0	T	27448929	C	T	27448929	2	4	161	1	0	0	0	0	0	0	0	1	7715	535	19	1		1	IL21R	16	27448929	Silent	SNP	C	TCGA-E1-5319-01A-01D-1893-08		27448929	62905824	37	23162											
ABCC12	94160	broad.mit.edu	37	16	48162529	48162529	+	Silent	SNP	G	G	A			TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chr16:48162529G>A	ENST00000311303.3	-	9	1701	c.1356C>T	c.(1354-1356)acC>acT	p.T452T	ABCC12_ENST00000448542.1_Silent_p.T452T|ABCC12_ENST00000416054.1_Silent_p.T452T	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	452						integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				ATTTCTTTGGGGTACTTTTCC	0.507													33	65					0	0	0.001786	0	0	A	48162529	G	A	48162529	2	1	161	1	0	0	0	0	0	0	0	1	52	1219	43	2		2	ABCC12	16	48162529	Silent	SNP	G	TCGA-E1-5319-01A-01D-1893-08	20713600	48162529	42192224	38	23163											
MMP15	4324	broad.mit.edu	37	16	58072238	58072238	+	Missense_Mutation	SNP	G	G	A	rs147283654		TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chr16:58072238G>A	ENST00000219271.3	+	3	1165	c.380G>A	c.(379-381)cGg>cAg	p.R127Q		NM_002428.2	NP_002419.1	P51511	MMP15_HUMAN	matrix metallopeptidase 15 (membrane-inserted)	127					protein modification process|proteolysis	extracellular matrix|integral to plasma membrane	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|protein binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	18						AACCTGCGGCGGCGTCGGAAG	0.647													48	130					0	0	0.00361	0	0	A	58072238	G	A	58072238	3	1	161	1	0	0	0	0	1	0	0	0	9702	1116	39	1	390	1	MMP15	16	58072238	Missense_Mutation	SNP	G	TCGA-E1-5319-01A-01D-1893-08	9909709	58072238	32282515	39	23164											
PSKH1	5681	broad.mit.edu	37	16	67961376	67961376	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chr16:67961376G>A	ENST00000291041.5	+	3	1276	c.1106G>A	c.(1105-1107)cGc>cAc	p.R369H		NM_006742.2	NP_006733.1	P11801	KPSH1_HUMAN	protein serine kinase H1	369						endoplasmic reticulum membrane|Golgi apparatus|microtubule organizing center|nuclear speck|plasma membrane	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(2)|large_intestine(1)|lung(7)|pancreas(1)	12		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0044)|Epithelial(162;0.0197)|all cancers(182;0.128)		AACCTGCACCGCTCCATATCC	0.607													48	83					0	0	0.00361	0	0	A	67961376	G	A	67961376	3	1	161	1	0	0	0	0	1	0	0	0	12713	1087	38	1	1112	1	PSKH1	16	67961376	Missense_Mutation	SNP	G	TCGA-E1-5319-01A-01D-1893-08	9889138	67961376	22393377	40	23165											
TYK2	7297	broad.mit.edu	37	19	10479066	10479067	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chr19:10479066_10479067delAA	ENST00000525621.1	-	4	702_703	c.221_222delTT	c.(220-222)tttfs	p.F74fs	TYK2_ENST00000264818.6_Frame_Shift_Del_p.F74fs|TYK2_ENST00000524462.1_Intron|TYK2_ENST00000529370.1_Frame_Shift_Del_p.F74fs	NM_003331.4	NP_003322.3	P29597	TYK2_HUMAN	tyrosine kinase 2	74	FERM.				intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			CGAAGAGGGCAAAGAGATTGAA	0.54													48	110	---	---	---	---						-	10479067	AA	-	10479066	7	5	161	1	0	1	0	1	0	0	0	0	16872	127	5	0	3429	0	TYK2	19	10479066	Frame_Shift_Del	DEL	AA	TCGA-E1-5319-01A-01D-1893-08		10479066	48649917	41	23166											
LGALS13	29124	broad.mit.edu	37	19	40097866	40097868	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chr19:40097866_40097868delAAG	ENST00000221797.4	+	4	352_354	c.307_309delAAG	c.(307-309)aagdel	p.K103del		NM_013268.2	NP_037400.1	Q9UHV8	PP13_HUMAN	lectin, galactoside-binding, soluble, 13	103	Galectin.				lipid catabolic process|phospholipid metabolic process		carboxylesterase activity|lysophospholipase activity|sugar binding			lung(5)|ovary(1)|urinary_tract(1)	7	all_cancers(60;1.77e-05)|all_lung(34;5.38e-08)|Lung NSC(34;6.37e-08)|Ovarian(47;0.116)		Epithelial(26;3.28e-26)|OV - Ovarian serous cystadenocarcinoma(5;7.31e-25)|all cancers(26;1.15e-23)|LUSC - Lung squamous cell carcinoma(53;0.00281)			CTTGTAGATAAAGGTCAATGGCA	0.458													31	40	---	---	---	---						-	40097868	AAG	-	40097866	7	5	161	1	0	1	0	1	0	0	0	0	8779	15	1	0	321	0	LGALS13	19	40097866	In_Frame_Del	DEL	AAG	TCGA-E1-5319-01A-01D-1893-08	29618800	40097866	19031117	42	23167											
CIC	23152	broad.mit.edu	37	19	42796905	42796906	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chr19:42796905_42796906delTG	ENST00000572681.2	+	15	6155_6156	c.6087_6088delTG	c.(6085-6090)actgtgfs	p.V2030fs	CIC_ENST00000575354.2_Frame_Shift_Del_p.V1122fs|CIC_ENST00000160740.3_Frame_Shift_Del_p.V1121fs			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	1122					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				TGGTCTACACTGTGGCCACCAG	0.668			"Mis, F, S"		oligodendroglioma								26	73	---	---	---	---						-	42796906	TG	-	42796905	7	5	161	1	0	1	0	1	0	0	0	0	3446	1567	55	0	3417	0	CIC	19	42796905	Frame_Shift_Del	DEL	TG	TCGA-E1-5319-01A-01D-1893-08	2699039	42796905	16332078	43	23168											
C20orf24	55969	broad.mit.edu	37	20	35236193	35236193	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chr20:35236193C>T	ENST00000344795.3	+	2	408	c.190C>T	c.(190-192)Cca>Tca	p.P64S	C20orf24_ENST00000373852.5_Missense_Mutation_p.P64S|C20orf24_ENST00000342422.3_Missense_Mutation_p.P64S|TGIF2-C20orf24_ENST00000558530.1_Missense_Mutation_p.P90S	NM_001199534.1|NM_018840.4	NP_001186463.1|NP_061328.1			chromosome 20 open reading frame 24											breast(1)|kidney(1)|lung(2)	4	Breast(12;0.114)	Myeloproliferative disorder(115;0.00878)				GGGAGTTTTGCCATTACGAGG	0.393													4	148					0	0	0.000248	0	0	T	35236193	C	T	35236193	3	4	161	1	0	0	0	0	1	0	0	0	2119	739	26	2	196	2	C20orf24	20	35236193	Missense_Mutation	SNP	C	TCGA-E1-5319-01A-01D-1893-08		35236193	27789327	44	23169											
STAU1	6780	broad.mit.edu	37	20	47732387	47732387	+	Silent	SNP	T	T	C			TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chr20:47732387T>C	ENST00000371828.3	-	13	1912	c.1425A>G	c.(1423-1425)ttA>ttG	p.L475L	STAU1_ENST00000371802.1_Silent_p.L475L|STAU1_ENST00000360426.4_Silent_p.L469L|STAU1_ENST00000340954.7_Silent_p.L469L|STAU1_ENST00000371856.2_Silent_p.L550L|STAU1_ENST00000371792.1_Silent_p.L467L|STAU1_ENST00000347458.5_Silent_p.L469L	NM_001037328.1|NM_004602.2	NP_001032405.1|NP_004593.2	O95793	STAU1_HUMAN	staufen double-stranded RNA binding protein 1	550						microtubule associated complex|rough endoplasmic reticulum|stress granule	double-stranded RNA binding			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	23			BRCA - Breast invasive adenocarcinoma(12;0.000644)|Colorectal(8;0.198)			ACAGCAACTTTAAGATGTTCA	0.512													10	217					0	0	0.008291	0	0	C	47732387	T	C	47732387	2	2	161	1	0	0	0	0	0	0	0	1	15328	1751	61	3		3	STAU1	20	47732387	Silent	SNP	T	TCGA-E1-5319-01A-01D-1893-08	12496194	47732387	15293133	45	23170											
GGT1	2678	broad.mit.edu	37	22	25023484	25023484	+	Missense_Mutation	SNP	A	A	G			TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chr22:25023484A>G	ENST00000400382.1	+	12	1861	c.1106A>G	c.(1105-1107)tAc>tGc	p.Y369C	GGT1_ENST00000404223.1_Missense_Mutation_p.Y25C|GGT1_ENST00000466310.1_3'UTR|GGT1_ENST00000404920.1_Missense_Mutation_p.Y25C|GGT1_ENST00000404532.1_Missense_Mutation_p.Y25C|GGT1_ENST00000400380.1_Missense_Mutation_p.Y369C|GGT1_ENST00000400383.1_Missense_Mutation_p.Y369C|GGT1_ENST00000401885.1_Missense_Mutation_p.Y25C|GGT1_ENST00000248923.4_Missense_Mutation_p.Y369C|GGT1_ENST00000406383.2_Missense_Mutation_p.Y369C|GGT1_ENST00000403838.1_Missense_Mutation_p.Y25C			P19440	GGT1_HUMAN	gamma-glutamyltransferase 1	369					glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity|protein binding			breast(1)|endometrium(2)|kidney(14)|large_intestine(2)|lung(6)|pancreas(1)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	40					Glutathione(DB00143)	ATCTCCTACTACAAGCCCGAG	0.632													3	105					0	0	0.000248	0	0	G	25023484	A	G	25023484	3	3	161	1	0	0	0	0	1	0	0	0	6403	391	14	3	1136	3	GGT1	22	25023484	Missense_Mutation	SNP	A	TCGA-E1-5319-01A-01D-1893-08		25023484	26281082	46	23171											
SSTR3	6753	broad.mit.edu	37	22	37603800	37603800	+	Missense_Mutation	SNP	G	G	T			TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chr22:37603800G>T	ENST00000328544.3	-	2	576	c.43C>A	c.(43-45)Cct>Act	p.P15T	SSTR3_ENST00000402501.1_Missense_Mutation_p.P15T	NM_001051.3	NP_001042.1	P32745	SSR3_HUMAN	somatostatin receptor 3	15					G-protein signaling, coupled to cyclic nucleotide second messenger|induction of apoptosis by hormones|negative regulation of cell proliferation	integral to plasma membrane|nonmotile primary cilium	somatostatin receptor activity			NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)	14						GCATTCTCAGGTTCTGAGGTC	0.632													20	46					5.26018e-13	6.24089e-13	0.001882	1	0	T	37603800	G	T	37603800	3	4	161	1	0	0	0	0	1	0	0	0	15255	1261	44	5	1217	5	SSTR3	22	37603800	Missense_Mutation	SNP	G	TCGA-E1-5319-01A-01D-1893-08	12580316	37603800	13700766	47	23172											
FRMPD4	9758	broad.mit.edu	37	X	12735805	12735805	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chrX:12735805C>T	ENST00000380682.1	+	16	3366	c.2860C>T	c.(2860-2862)Ccg>Tcg	p.P954S		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	954					positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						GACCGAGTTCCCGGCCTCCAA	0.607													7	248					0	0	0.001984	0	0	T	12735805	C	T	12735805	3	4	161	1	0	0	0	0	1	0	0	0	6094	623	22	2	2922	2	FRMPD4	23	12735805	Missense_Mutation	SNP	C	TCGA-E1-5319-01A-01D-1893-08		12735805	142534755	48	23173											
SRPX	8406	broad.mit.edu	37	X	38079976	38079978	+	In_Frame_Del	DEL	GCA	GCA	-	rs72445954		TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chrX:38079976_38079978delGCA	ENST00000378533.3	-	1	174_176	c.68_70delTGC	c.(67-72)ctgcgc>cgc	p.L23del	TM4SF2_ENST00000465127.1_Intron|SRPX_ENST00000544439.1_In_Frame_Del_p.L23del|SRPX_ENST00000343800.6_Intron|SRPX_ENST00000538295.1_In_Frame_Del_p.L23del|SRPX_ENST00000432886.2_In_Frame_Del_p.L23del	NM_006307.4	NP_006298.1	P78539	SRPX_HUMAN	sushi-repeat containing protein, X-linked	23			Missing.		cell adhesion	cell surface|membrane		p.L23delL(2)		autonomic_ganglia(1)|breast(2)|endometrium(5)|large_intestine(5)|lung(10)|prostate(2)	25						GGCGGGACGCgcagcagcagcag	0.729											OREG0019726	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	9	---	---	---	---						-	38079978	GCA	-	38079976	7	5	161	1	0	1	0	1	0	0	0	0	15220	1087	38	0	1364	0	SRPX	23	38079976	In_Frame_Del	DEL	GCA	TCGA-E1-5319-01A-01D-1893-08	25344171	38079976	117190584	49	23174											
RPGR	6103	broad.mit.edu	37	X	38145181	38145192	+	In_Frame_Del	DEL	TCCCCTTCCACT	TCCCCTTCCACT	-	rs144299434	byFrequency	TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chrX:38145181_38145192delTCCCCTTCCACT	ENST00000378505.2	-	15	3236_3247	c.3060_3071delAGTGGAAGGGGA	c.(3058-3072)gaagtggaaggggag>gag	p.1020_1024EVEGE>E	RPGR_ENST00000342811.3_Intron|RPGR_ENST00000318842.7_Intron|TM4SF2_ENST00000465127.1_Intron|RPGR_ENST00000339363.3_Intron|RPGR_ENST00000338898.3_Intron|RPGR_ENST00000309513.3_Intron	NM_001034853.1	NP_001030025.1	Q92834	RPGR_HUMAN	retinitis pigmentosa GTPase regulator	810					intracellular protein transport|response to stimulus|visual perception	Golgi apparatus|photoreceptor outer segment	guanyl-nucleotide exchange factor activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	25						cccttccacctccccttccacttccccttcct	0.575													7	9	---	---	---	---						-	38145192	TCCCCTTCCACT	-	38145181	7	5	161	1	0	1	0	1	0	0	0	0	13600	1551	54	0	950	0	RPGR	23	38145181	In_Frame_Del	DEL	TCCCCTTCCACT	TCGA-E1-5319-01A-01D-1893-08	65205	38145181	117125379	50	23175											
MAGIX	79917	broad.mit.edu	37	X	49022446	49022446	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chrX:49022446G>A	ENST00000376338.3	+	4	615	c.536G>A	c.(535-537)gGa>gAa	p.G179E	MAGIX_ENST00000498742.1_3'UTR|MAGIX_ENST00000376339.1_Missense_Mutation_p.G174E|MAGIX_ENST00000412696.2_Missense_Mutation_p.G238E|MAGIX_ENST00000425661.2_Missense_Mutation_p.G162E			Q9H6Y5	MAGIX_HUMAN	MAGI family member, X-linked	238	PDZ.																CCAGATCCTGGAGGGCCGGAG	0.617													29	68					0	0	0.001786	0	0	A	49022446	G	A	49022446	3	1	161	1	0	0	0	0	1	0	0	0	9243	1174	41	2	775	2	MAGIX	23	49022446	Missense_Mutation	SNP	G	TCGA-E1-5319-01A-01D-1893-08	10877265	49022446	106248114	51	23176											
DGKK	139189	broad.mit.edu	37	X	50213438	50213438	+	RNA	SNP	T	T	C			TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chrX:50213438T>C	ENST00000376025.2	-	0	299							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					ctggggtcggTTCTGTGTACA	0.647													17	347					0	0	0.007413	0	0	C	50213438	T	C	50213438	1	2	161	0	1	0	0	0	0	0	0	0	4500	1722	60	3		3	DGKK	23	50213438	RNA	SNP	T	TCGA-E1-5319-01A-01D-1893-08	1190992	50213438	105057122	52	23177											
PCDH19	57526	broad.mit.edu	37	X	99662276	99662276	+	Silent	SNP	G	G	A			TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chrX:99662276G>A	ENST00000373034.4	-	1	2995	c.1320C>T	c.(1318-1320)acC>acT	p.T440T	PCDH19_ENST00000420881.2_Silent_p.T440T|PCDH19_ENST00000255531.7_Silent_p.T440T	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	440	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.T440T(1)		breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						TGATGAGCACGGTAAAGGACT	0.577													4	147					0	0	0.000602	0	0	A	99662276	G	A	99662276	2	1	161	1	0	0	0	0	0	0	0	1	11561	1103	39	1		1	PCDH19	23	99662276	Silent	SNP	G	TCGA-E1-5319-01A-01D-1893-08	49448838	99662276	55608284	53	23178											
COL4A5	1287	broad.mit.edu	37	X	107816843	107816843	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chrX:107816843C>T	ENST00000328300.6	+	9	749	c.505C>T	c.(505-507)Cca>Tca	p.P169S	COL4A5_ENST00000361603.2_Missense_Mutation_p.P169S	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	169	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						ACTGCCAGGACCAAAGGGTAA	0.363									Alport syndrome with Diffuse Leiomyomatosis				46	128					0	0	0.00361	0	0	T	107816843	C	T	107816843	3	4	161	1	0	0	0	0	1	0	0	0	3717	507	18	2	539	2	COL4A5	23	107816843	Missense_Mutation	SNP	C	TCGA-E1-5319-01A-01D-1893-08	8154567	107816843	47453717	54	23179											
SAGE1	55511	broad.mit.edu	37	X	134992597	134992597	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chrX:134992597C>T	ENST00000535938.1	+	16	2055	c.1888C>T	c.(1888-1890)Cgt>Tgt	p.R630C	SAGE1_ENST00000370709.3_Missense_Mutation_p.R630C|SAGE1_ENST00000537770.1_Missense_Mutation_p.R254C|SAGE1_ENST00000324447.3_Missense_Mutation_p.R630C	NM_018666.2	NP_061136.2	Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	630										breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55	Acute lymphoblastic leukemia(192;0.000127)					TCACAACATCCGTGAAGAGAA	0.488													63	126					0	0	0.00361	0	0	T	134992597	C	T	134992597	3	4	161	1	0	0	0	0	1	0	0	0	13861	652	23	1	1946	1	SAGE1	23	134992597	Missense_Mutation	SNP	C	TCGA-E1-5319-01A-01D-1893-08	27175754	134992597	20277963	55	23180											
DDI2	84301	broad.mit.edu	37	1	15956989	15956989	+	Silent	SNP	G	G	A			TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr1:15956989G>A	ENST00000480945.1	+	3	609	c.438G>A	c.(436-438)ccG>ccA	p.P146P		NM_032341.4	NP_115717.3	Q5TDH0	DDI2_HUMAN	DNA-damage inducible 1 homolog 2 (S. cerevisiae)	146					proteolysis		aspartic-type endopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|stomach(1)	17		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00327)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.03e-07)|COAD - Colon adenocarcinoma(227;4.48e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)		TGGCCAACCCGCATGAGCTGT	0.517													4	219					0	0	0.150653	0	0	A	15956989	G	A	15956989	2	1	162	1	0	0	0	0	0	0	0	1	4352	1074	38	1		1	DDI2	1	15956989	Silent	SNP	G	TCGA-E1-5322-01A-01D-1468-08		15956989	233293632	1	23181											
SESN2	83667	broad.mit.edu	37	1	28598956	28598956	+	Silent	SNP	C	C	T			TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr1:28598956C>T	ENST00000253063.3	+	4	837	c.516C>T	c.(514-516)ctC>ctT	p.L172L		NM_031459.4	NP_113647.1	P58004	SESN2_HUMAN	sestrin 2	172					cell cycle arrest	cytoplasm|nucleus				cervix(1)|endometrium(3)|large_intestine(5)|lung(7)|ovary(2)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	27		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;4.76e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;2.98e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|READ - Rectum adenocarcinoma(331;0.0649)		GGCCATGGCTCATCACCAAGG	0.652													55	93					0	0	0.870114	0	0	T	28598956	C	T	28598956	2	4	162	1	0	0	0	0	0	0	0	1	14179	813	29	2		2	SESN2	1	28598956	Silent	SNP	C	TCGA-E1-5322-01A-01D-1468-08	12641967	28598956	220651665	2	23182											
HRNR	388697	broad.mit.edu	37	1	152192510	152192510	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr1:152192510C>T	ENST00000368801.2	-	3	1670	c.1595G>A	c.(1594-1596)cGa>cAa	p.R532Q	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	532					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGACCCATGTCGGCTGTGTCC	0.567													45	377					0	0	0.840704	0	0	T	152192510	C	T	152192510	3	4	162	1	0	0	0	0	1	0	0	0	7400	884	31	1	6961	1	HRNR	1	152192510	Missense_Mutation	SNP	C	TCGA-E1-5322-01A-01D-1468-08	123593554	152192510	97058111	3	23183											
PEAR1	375033	broad.mit.edu	37	1	156880104	156880104	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr1:156880104G>A	ENST00000338302.3	+	15	1982	c.1757G>A	c.(1756-1758)gGc>gAc	p.G586D	PEAR1_ENST00000292357.7_Missense_Mutation_p.G586D			Q5VY43	PEAR1_HUMAN	platelet endothelial aggregation receptor 1	586	EGF-like 7.					integral to membrane				breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)	43	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					AAGAATGGGGGCACCTGTCTC	0.632											OREG0013890	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	15	427					0	0	0.479597	0	0	A	156880104	G	A	156880104	3	1	162	1	0	0	0	0	1	0	0	0	11759	1203	42	2	1807	2	PEAR1	1	156880104	Missense_Mutation	SNP	G	TCGA-E1-5322-01A-01D-1468-08	4687594	156880104	92370517	4	23184											
OR2T1	26696	broad.mit.edu	37	1	248570073	248570073	+	Frame_Shift_Del	DEL	C	C	-			TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr1:248570073delC	ENST00000366474.1	+	1	778	c.778delC	c.(778-780)cctfs	p.P260fs		NM_030904.1	NP_112166.1	O43869	OR2T1_HUMAN	olfactory receptor, family 2, subfamily T, member 1	260					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	39	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GCTGCTGATTCCTTTCTCTGT	0.507													36	166	---	---	---	---						-	248570073	C	-	248570073	7	5	162	1	0	1	0	1	0	0	0	0	11064	855	30	0	780	0	OR2T1	1	248570073	Frame_Shift_Del	DEL	C	TCGA-E1-5322-01A-01D-1468-08	91689969	248570073	680548	5	23185											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	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	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								52	105					0	0	0.870114	0	0	T	209113112	C	T	209113112	3	4	162	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-E1-5322-01A-01D-1468-08		209113112	34086261	6	23186											
ANKZF1	55139	broad.mit.edu	37	2	220101063	220101063	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr2:220101063G>A	ENST00000323348.5	+	14	2251	c.2077G>A	c.(2077-2079)Gca>Aca	p.A693T	ANKZF1_ENST00000409849.1_Missense_Mutation_p.A483T|ANKZF1_ENST00000410034.3_Missense_Mutation_p.A693T	NM_018089.2	NP_060559.2	Q9H8Y5	ANKZ1_HUMAN	ankyrin repeat and zinc finger domain containing 1	693						intracellular	zinc ion binding			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	23		Renal(207;0.0474)		Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GAGTTGTGGGGCATCCCTCCA	0.577													5	222					0	0	0.217242	0	0	A	220101063	G	A	220101063	3	1	162	1	0	0	0	0	1	0	0	0	687	1203	42	2	2127	2	ANKZF1	2	220101063	Missense_Mutation	SNP	G	TCGA-E1-5322-01A-01D-1468-08	10987951	220101063	23098310	7	23187											
OR5H6	79295	broad.mit.edu	37	3	97983515	97983515	+	Silent	SNP	T	T	C			TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr3:97983515T>C	ENST00000383696.2	+	1	428	c.387T>C	c.(385-387)ttT>ttC	p.F129F	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005479.1	NP_001005479.1	Q8NGV6	OR5H6_HUMAN	olfactory receptor, family 5, subfamily H, member 6 (gene/pseudogene)	129					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(2)|endometrium(1)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						CAGAATGTTTTCTCTTGGCAA	0.368													26	277					0	0	0.654019	0	0	C	97983515	T	C	97983515	2	2	162	1	0	0	0	0	0	0	0	1	11210	1780	62	3		3	OR5H6	3	97983515	Silent	SNP	T	TCGA-E1-5322-01A-01D-1468-08		97983515	100038915	8	23188											
GPR128	84873	broad.mit.edu	37	3	100352130	100352130	+	Missense_Mutation	SNP	G	G	A	rs143646459		TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr3:100352130G>A	ENST00000273352.3	+	4	624	c.356G>A	c.(355-357)cGg>cAg	p.R119Q		NM_032787.2	NP_116176.2	Q96K78	GP128_HUMAN	G protein-coupled receptor 128	119					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						ATGGCAGTCCGGTTGTGCAGT	0.313													4	95					0	0	0.150653	0	0	A	100352130	G	A	100352130	3	1	162	1	0	0	0	0	1	0	0	0	6681	1116	39	1	370	1	GPR128	3	100352130	Missense_Mutation	SNP	G	TCGA-E1-5322-01A-01D-1468-08	2368615	100352130	97670300	9	23189											
IFT122	55764	broad.mit.edu	37	3	129214370	129214370	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr3:129214370G>A	ENST00000296266.3	+	19	2473	c.2281G>A	c.(2281-2283)Gcc>Acc	p.A761T	IFT122_ENST00000513932.1_3'UTR|IFT122_ENST00000347300.2_Missense_Mutation_p.A651T|IFT122_ENST00000348417.2_Missense_Mutation_p.A710T|IFT122_ENST00000431818.2_Missense_Mutation_p.A560T|IFT122_ENST00000440957.2_Missense_Mutation_p.A501T|IFT122_ENST00000349441.2_Missense_Mutation_p.A599T|IFT122_ENST00000507564.1_Missense_Mutation_p.A702T|IFT122_ENST00000504021.1_Missense_Mutation_p.A586T	NM_052985.2	NP_443711.2	Q9HBG6	IF122_HUMAN	intraflagellar transport 122 homolog (Chlamydomonas)	710					camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure	microtubule basal body|photoreceptor connecting cilium				breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						CCATGAGGCCGCCAAACTGTA	0.512													4	125					0	0	0.150653	0	0	A	129214370	G	A	129214370	3	1	162	1	0	0	0	0	1	0	0	0	7599	1087	38	1	2355	1	IFT122	3	129214370	Missense_Mutation	SNP	G	TCGA-E1-5322-01A-01D-1468-08	28862240	129214370	68808060	10	23190											
WDR49	151790	broad.mit.edu	37	3	167223186	167223186	+	Missense_Mutation	SNP	A	A	T			TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr3:167223186A>T	ENST00000308378.3	-	13	2042	c.1737T>A	c.(1735-1737)gaT>gaA	p.D579E	WDR49_ENST00000453925.2_Missense_Mutation_p.D544E|WDR49_ENST00000479765.1_Intron|WDR49_ENST00000476376.1_Missense_Mutation_p.D404E	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN	WD repeat domain 49	579										breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						CTAAATTTATATCTTCTGATG	0.303													3	99					0	0	0.115264	0	0	T	167223186	A	T	167223186	3	4	162	1	0	0	0	0	1	0	0	0	17362	446	16	4	368	4	WDR49	3	167223186	Missense_Mutation	SNP	A	TCGA-E1-5322-01A-01D-1468-08	38008816	167223186	30799244	11	23191											
PDE6B	5158	broad.mit.edu	37	4	659049	659049	+	Silent	SNP	A	A	G			TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr4:659049A>G	ENST00000255622.6	+	19	2242	c.2199A>G	c.(2197-2199)gcA>gcG	p.A733A	PDE6B_ENST00000496514.1_Silent_p.A733A|PDE6B_ENST00000429163.2_Silent_p.A454A	NM_000283.3|NM_001145291.1	NP_000274.2|NP_001138763	P35913	PDE6B_HUMAN	phosphodiesterase 6B, cGMP-specific, rod, beta	733					cytosolic calcium ion homeostasis|GMP metabolic process|phototransduction, visible light|platelet activation|visual perception	cytosol|membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30						TCCAGGTCGCACTTCTCGTGG	0.627													11	43					0	0	0.575678	0	0	G	659049	A	G	659049	2	3	162	1	0	0	0	0	0	0	0	1	11693	146	6	3		3	PDE6B	4	659049	Silent	SNP	A	TCGA-E1-5322-01A-01D-1468-08		659049	190495227	12	23192											
SLIT2	9353	broad.mit.edu	37	4	20597443	20597443	+	Silent	SNP	C	C	T			TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr4:20597443C>T	ENST00000504154.1	+	31	3558	c.3306C>T	c.(3304-3306)tgC>tgT	p.C1102C	SLIT2_ENST00000273739.5_Silent_p.C1115C|SLIT2_ENST00000503837.1_Silent_p.C1098C|SLIT2_ENST00000503823.1_Silent_p.C1094C	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	1102	EGF-like 5; calcium-binding (Potential).				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						CGTGCATATGCCCCGAAGGTT	0.438													5	215					0	0	0.184627	0	0	T	20597443	C	T	20597443	2	4	162	1	0	0	0	0	0	0	0	1	14794	747	26	2		2	SLIT2	4	20597443	Silent	SNP	C	TCGA-E1-5322-01A-01D-1468-08	19938394	20597443	170556833	13	23193											
LIMCH1	22998	broad.mit.edu	37	4	41646515	41646515	+	Splice_Site	SNP	A	A	C			TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr4:41646515A>C	ENST00000313860.7	+	10	1025		c.e10-1		LIMCH1_ENST00000508501.1_Splice_Site|LIMCH1_ENST00000509277.1_Splice_Site|LIMCH1_ENST00000512632.1_Splice_Site|LIMCH1_ENST00000381753.4_Splice_Site|LIMCH1_ENST00000503057.1_Splice_Site|LIMCH1_ENST00000396595.3_Splice_Site|LIMCH1_ENST00000514096.1_Splice_Site|LIMCH1_ENST00000512946.1_Splice_Site|LIMCH1_ENST00000511496.1_Splice_Site|LIMCH1_ENST00000513024.1_Splice_Site|LIMCH1_ENST00000512820.1_Splice_Site	NM_014988.2	NP_055803.2	Q9UPQ0	LIMC1_HUMAN	LIM and calponin homology domains 1						actomyosin structure organization		actin binding|zinc ion binding			central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						CTCCACACTCAGGAGCACCAG	0.672											OREG0016169	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	9					0	0	0.335167	0	0	C	41646515	A	C	41646515	5	2	162	1	0	0	0	0	0	0	1	0	8837	202	7	5	1036	5	LIMCH1	4	41646515	Splice_Site	SNP	A	TCGA-E1-5322-01A-01D-1468-08	21049072	41646515	149507761	14	23194											
PCDHA12	56137	broad.mit.edu	37	5	140256670	140256670	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr5:140256670G>A	ENST00000398631.2	+	1	1613	c.1613G>A	c.(1612-1614)cGc>cAc	p.R538H	PCDHA2_ENST00000526136.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA9_ENST00000532602.1_Intron	NM_018903.2|NM_031864.2	NP_061726.1|NP_114070.1												p.R538H(1)		NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGAGCGCGCGCGACGCCGGC	0.692													7	212					0	0	0.27861	0	0	A	140256670	G	A	140256670	3	1	162	1	0	0	0	0	1	0	0	0	11569	1087	38	1	1615	1	PCDHA12	5	140256670	Missense_Mutation	SNP	G	TCGA-E1-5322-01A-01D-1468-08		140256670	40658590	15	23195											
FLOT1	10211	broad.mit.edu	37	6	30708275	30708275	+	Missense_Mutation	SNP	G	G	A	rs139987312	byFrequency	TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr6:30708275G>A	ENST00000376389.3	-	7	788	c.568C>T	c.(568-570)Cgg>Tgg	p.R190W	FLOT1_ENST00000456573.2_Missense_Mutation_p.R142W|FLOT1_ENST00000470643.1_5'UTR	NM_005803.2	NP_005794.1	O75955	FLOT1_HUMAN	flotillin 1	190						centriolar satellite|endosome|integral to membrane|melanosome|membrane fraction				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|prostate(1)	13						TCTCTCACCCGGATCCCAGCA	0.532													101	138					0	0	0.870114	0	0	A	30708275	G	A	30708275	3	1	162	1	0	0	0	0	1	0	0	0	5969	1115	39	1	743	1	FLOT1	6	30708275	Missense_Mutation	SNP	G	TCGA-E1-5322-01A-01D-1468-08		30708275	140406792	16	23196											
FOXP4	116113	broad.mit.edu	37	6	41554783	41554783	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr6:41554783C>T	ENST00000373060.1	+	6	1005	c.547C>T	c.(547-549)Ctc>Ttc	p.L183F	FOXP4_ENST00000409208.1_Missense_Mutation_p.L183F|FOXP4_ENST00000307972.4_Missense_Mutation_p.L183F|FOXP4_ENST00000373057.3_Missense_Mutation_p.L181F|FOXP4_ENST00000373063.3_Missense_Mutation_p.L183F	NM_001012426.1|NM_001012427.1	NP_001012426.1|NP_001012427.1	Q8IVH2	FOXP4_HUMAN	forkhead box P4	183	Gln-rich.				embryonic foregut morphogenesis|heart development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	16	Ovarian(28;0.0327)|Colorectal(47;0.196)					CCAGCAGCAGCTCCTGCAAAT	0.662											OREG0004065	type=REGULATORY REGION|Gene=FOXP4|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	8	53					0	0	0.307466	0	0	T	41554783	C	T	41554783	3	4	162	1	0	0	0	0	1	0	0	0	6063	797	28	2	565	2	FOXP4	6	41554783	Missense_Mutation	SNP	C	TCGA-E1-5322-01A-01D-1468-08	10846508	41554783	129560284	17	23197											
LAMA2	3908	broad.mit.edu	37	6	129475728	129475728	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr6:129475728G>A	ENST00000421865.2	+	8	1155	c.1106G>A	c.(1105-1107)cGt>cAt	p.R369H		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	369	Laminin EGF-like 2.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	p.R369L(1)		NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		TTGAATATACGTGGAAAGTAC	0.388													81	107					0	0	0.870114	0	0	A	129475728	G	A	129475728	3	1	162	1	0	0	0	0	1	0	0	0	8645	1145	40	1	1136	1	LAMA2	6	129475728	Missense_Mutation	SNP	G	TCGA-E1-5322-01A-01D-1468-08	87920945	129475728	41639339	18	23198											
MACC1	346389	broad.mit.edu	37	7	20198861	20198861	+	Missense_Mutation	SNP	A	A	G			TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr7:20198861A>G	ENST00000400331.5	-	5	1431	c.1123T>C	c.(1123-1125)Tat>Cat	p.Y375H	MACC1_ENST00000589011.1_Missense_Mutation_p.Y375H|MACC1_ENST00000332878.4_Missense_Mutation_p.Y375H	NM_182762.3	NP_877439.3	Q6ZN28	MACC1_HUMAN	metastasis associated in colon cancer 1	375					positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	growth factor activity			endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1)	39						TTGGGTCCATAAATTCCAATT	0.398													66	90					0	0	0.870114	0	0	G	20198861	A	G	20198861	3	3	162	1	0	0	0	0	1	0	0	0	9189	362	13	3	1447	3	MACC1	7	20198861	Missense_Mutation	SNP	A	TCGA-E1-5322-01A-01D-1468-08		20198861	138939802	19	23199											
TBX20	57057	broad.mit.edu	37	7	35242048	35242048	+	Missense_Mutation	SNP	A	A	C			TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr7:35242048A>C	ENST00000408931.3	-	8	1864	c.1338T>G	c.(1336-1338)ttT>ttG	p.F446L		NM_001077653.2|NM_001166220.1	NP_001071121.1|NP_001159692.1	Q9UMR3	TBX20_HUMAN	T-box 20	446						nucleus	DNA binding			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(9)|prostate(1)|skin(1)|stomach(1)	18						AGAGTCATACAAATGGCGTCA	0.502													13	21					0	0	0.411799	0	0	C	35242048	A	C	35242048	3	2	162	1	0	0	0	0	1	0	0	0	15716	127	5	5	8	5	TBX20	7	35242048	Missense_Mutation	SNP	A	TCGA-E1-5322-01A-01D-1468-08	15043187	35242048	123896615	20	23200											
CSPP1	79848	broad.mit.edu	37	8	68028332	68028332	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr8:68028332G>A	ENST00000262210.5	+	11	1487	c.1456G>A	c.(1456-1458)Gcc>Acc	p.A486T	CSPP1_ENST00000412460.1_Missense_Mutation_p.A192T	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	centrosome and spindle pole associated protein 1	521	Pro-rich.					centrosome|microtubule|spindle				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)			ACTCAGCAGCGCCCTTGGTGA	0.443													9	244					0	0	0.335167	0	0	A	68028332	G	A	68028332	3	1	162	1	0	0	0	0	1	0	0	0	3987	1087	38	1	1611	1	CSPP1	8	68028332	Missense_Mutation	SNP	G	TCGA-E1-5322-01A-01D-1468-08		68028332	78335690	21	23201											
FAM120A	23196	broad.mit.edu	37	9	96214360	96214360	+	Missense_Mutation	SNP	C	C	A			TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr9:96214360C>A	ENST00000277165.6	+	1	357	c.163C>A	c.(163-165)Cac>Aac	p.H55N	FAM120A_ENST00000375389.3_Missense_Mutation_p.H55N|FAM120A_ENST00000340893.4_Missense_Mutation_p.H55N|FAM120AOS_ENST00000375412.5_Intron|FAM120A_ENST00000333936.5_Missense_Mutation_p.H55N	NM_014612.3	NP_055427.2	Q9NZB2	F120A_HUMAN	family with sequence similarity 120A	55						cytoplasm|plasma membrane	RNA binding			endometrium(5)|kidney(3)|large_intestine(8)|lung(12)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						CAACTGCCTGCACCGCCTCTA	0.736													2	2					0.0784	0.0879351	0.115264	1	0	A	96214360	C	A	96214360	3	1	162	1	0	0	0	0	1	0	0	0	5446	710	25	5	165	5	FAM120A	9	96214360	Missense_Mutation	SNP	C	TCGA-E1-5322-01A-01D-1468-08		96214360	44999071	22	23202											
SH2D3C	10044	broad.mit.edu	37	9	130507277	130507277	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr9:130507277C>T	ENST00000314830.8	-	7	1479	c.1366G>A	c.(1366-1368)Gcc>Acc	p.A456T	SH2D3C_ENST00000420366.1_Missense_Mutation_p.A298T|SH2D3C_ENST00000373276.3_Missense_Mutation_p.A388T|SH2D3C_ENST00000373274.3_Missense_Mutation_p.A296T|SH2D3C_ENST00000429553.1_Missense_Mutation_p.A102T|SH2D3C_ENST00000471939.1_5'UTR|SH2D3C_ENST00000373277.4_Missense_Mutation_p.A299T	NM_170600.2	NP_733745.1	Q8N5H7	SH2D3_HUMAN	SH2 domain containing 3C	456					JNK cascade|small GTPase mediated signal transduction	cytoplasm|membrane	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						GTCTTTGGGGCACTTCCGGGA	0.662													24	171					0	0	0.624587	0	0	T	130507277	C	T	130507277	3	4	162	1	0	0	0	0	1	0	0	0	14288	710	25	2	1240	2	SH2D3C	9	130507277	Missense_Mutation	SNP	C	TCGA-E1-5322-01A-01D-1468-08	34292917	130507277	10706154	23	23203											
RET	5979	broad.mit.edu	37	10	43609023	43609023	+	Silent	SNP	A	A	G			TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr10:43609023A>G	ENST00000355710.3	+	10	2011	c.1779A>G	c.(1777-1779)ggA>ggG	p.G593G	RET_ENST00000340058.5_Silent_p.G593G	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	593			G -> E (in a colorectal cancer sample; somatic mutation).		homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity	p.G592_G607del(1)	CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Sunitinib(DB01268)	TTGTTGGGGGACACGAGCCTG	0.642		1	"T, Mis, N, F"	"H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"	"medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"	"medullary thyroid,  papillary thyroid, pheochromocytoma"	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma				7	18					0	0	0.27861	0	0	G	43609023	A	G	43609023	2	3	162	1	0	0	0	0	0	0	0	1	13287	262	10	3		3	RET	10	43609023	Silent	SNP	A	TCGA-E1-5322-01A-01D-1468-08		43609023	91925724	24	23204											
KCNMA1	3778	broad.mit.edu	37	10	78669755	78669755	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr10:78669755G>A	ENST00000286627.5	-	24	3894	c.2942C>T	c.(2941-2943)gCc>gTc	p.A981V	KCNMA1_ENST00000404771.3_Missense_Mutation_p.A1039V|RP11-443A13.5_ENST00000458661.2_RNA|KCNMA1_ENST00000406533.3_Missense_Mutation_p.A1043V|KCNMA1_ENST00000372440.1_Missense_Mutation_p.A981V|KCNMA1_ENST00000286628.8_Missense_Mutation_p.A1039V|RP11-443A13.5_ENST00000426234.1_RNA|KCNMA1_ENST00000372443.1_Missense_Mutation_p.A1008V|KCNMA1_ENST00000404857.1_Missense_Mutation_p.A1022V|RP11-443A13.5_ENST00000600782.1_RNA|KCNMA1_ENST00000354353.5_Missense_Mutation_p.A1042V	NM_001271519.1|NM_002247.3	NP_001258448.1|NP_002238.2	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1	1039					cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity			breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)	GACACTGACGGCAAATGCTGT	0.512													4	83					0	0	0.150653	0	0	A	78669755	G	A	78669755	3	1	162	1	0	0	0	0	1	0	0	0	8117	1203	42	2	639	2	KCNMA1	10	78669755	Missense_Mutation	SNP	G	TCGA-E1-5322-01A-01D-1468-08	35060732	78669755	56864992	25	23205											
CPXM2	119587	broad.mit.edu	37	10	125526579	125526579	+	Silent	SNP	G	G	C			TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr10:125526579G>C	ENST00000241305.3	-	10	1543	c.1389C>G	c.(1387-1389)ctC>ctG	p.L463L	CPXM2_ENST00000368854.3_5'UTR	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	463					cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		CTGCCTCCCAGAGCAGCGTGT	0.522													3	238					0	0	0.115264	0	0	C	125526579	G	C	125526579	2	2	162	1	0	0	0	0	0	0	0	1	3861	929	33	4		4	CPXM2	10	125526579	Silent	SNP	G	TCGA-E1-5322-01A-01D-1468-08	46856824	125526579	10008168	26	23206											
ABTB2	25841	broad.mit.edu	37	11	34176285	34176285	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr11:34176285G>A	ENST00000435224.2	-	15	3153	c.2729C>T	c.(2728-2730)aCa>aTa	p.T910I	ABTB2_ENST00000298992.2_Missense_Mutation_p.T724I	NM_145804.2	NP_665803.2	A8K6S9	A8K6S9_HUMAN	ankyrin repeat and BTB (POZ) domain containing 2	724							DNA binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(20;0.0691)				CATGGATTCTGTTCCTCCGTA	0.592													91	117					0	0	0.870114	0	0	A	34176285	G	A	34176285	3	1	162	1	0	0	0	0	1	0	0	0	103	1377	48	2	360	2	ABTB2	11	34176285	Missense_Mutation	SNP	G	TCGA-E1-5322-01A-01D-1468-08		34176285	100830231	27	23207											
CTTN	2017	broad.mit.edu	37	11	70261803	70261803	+	Missense_Mutation	SNP	A	A	G			TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr11:70261803A>G	ENST00000301843.8	+	7	643	c.437A>G	c.(436-438)gAg>gGg	p.E146G	CTTN_ENST00000346329.3_Missense_Mutation_p.E146G|CTTN_ENST00000376561.3_Missense_Mutation_p.E146G	NM_005231.3	NP_005222.2	Q14247	SRC8_HUMAN	cortactin	146						cell cortex|cytoskeleton|lamellipodium|ruffle|soluble fraction	protein binding			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	31			BRCA - Breast invasive adenocarcinoma(2;4.34e-41)|LUSC - Lung squamous cell carcinoma(11;1.51e-13)|STAD - Stomach adenocarcinoma(18;0.0513)	Lung(977;0.0234)|LUSC - Lung squamous cell carcinoma(976;0.133)		GGGAAGACTGAGAAGCATGCC	0.532													197	325					0	0	0.870114	0	0	G	70261803	A	G	70261803	3	3	162	1	0	0	0	0	1	0	0	0	4068	304	11	3	455	3	CTTN	11	70261803	Missense_Mutation	SNP	A	TCGA-E1-5322-01A-01D-1468-08	36085518	70261803	64744713	28	23208											
CWF19L2	143884	broad.mit.edu	37	11	107299708	107299708	+	Missense_Mutation	SNP	G	G	T			TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr11:107299708G>T	ENST00000282251.5	-	8	1277	c.1250C>A	c.(1249-1251)aCa>aAa	p.T417K	CWF19L2_ENST00000433523.1_Missense_Mutation_p.T417K	NM_152434.2	NP_689647.2	Q2TBE0	C19L2_HUMAN	CWF19-like 2, cell cycle control (S. pombe)	417							catalytic activity			endometrium(4)|kidney(2)|large_intestine(13)|lung(21)	40		Melanoma(852;1.75e-05)|all_epithelial(67;6.27e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258)		Epithelial(105;7.18e-06)|BRCA - Breast invasive adenocarcinoma(274;1.65e-05)|all cancers(92;1.76e-05)		ACTCCATGATGTTAATCTTTC	0.418													39	484					2.26627e-22	2.68715e-22	0.834066	1	0	T	107299708	G	T	107299708	3	4	162	1	0	0	0	0	1	0	0	0	4095	1377	48	5	1478	5	CWF19L2	11	107299708	Missense_Mutation	SNP	G	TCGA-E1-5322-01A-01D-1468-08	37037905	107299708	27706808	29	23209											
LRIG3	121227	broad.mit.edu	37	12	59271321	59271321	+	Silent	SNP	C	C	T			TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr12:59271321C>T	ENST00000320743.3	-	15	2683	c.2397G>A	c.(2395-2397)tcG>tcA	p.S799S	LRIG3_ENST00000379141.4_Silent_p.S739S	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	leucine-rich repeats and immunoglobulin-like domains 3	799						integral to membrane			LRIG3/ROS1(2)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48			GBM - Glioblastoma multiforme(1;1.17e-18)			CATCGTCTAACGATGGGGCTG	0.562			T	ROS1	NSCLC								47	68					0	0	0.870114	0	0	T	59271321	C	T	59271321	2	4	162	1	0	0	0	0	0	0	0	1	8991	523	19	1		1	LRIG3	12	59271321	Silent	SNP	C	TCGA-E1-5322-01A-01D-1468-08		59271321	74580574	30	23210											
NEDD1	121441	broad.mit.edu	37	12	97331097	97331097	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr12:97331097C>T	ENST00000266742.4	+	9	1382	c.1043C>T	c.(1042-1044)tCc>tTc	p.S348F	NEDD1_ENST00000557644.1_Missense_Mutation_p.S355F|NEDD1_ENST00000429527.2_Missense_Mutation_p.S348F|NEDD1_ENST00000457368.2_Missense_Mutation_p.S259F|NEDD1_ENST00000411739.2_Missense_Mutation_p.S259F	NM_152905.3	NP_690869.1	Q8NHV4	NEDD1_HUMAN	neural precursor cell expressed, developmentally down-regulated 1	348					cell division|G2/M transition of mitotic cell cycle|mitosis	cytosol				breast(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8)	22						CCTGCCACGTCCATTGCCACA	0.428													6	266					0	0	0.248553	0	0	T	97331097	C	T	97331097	3	4	162	1	0	0	0	0	1	0	0	0	10356	855	30	2	1094	2	NEDD1	12	97331097	Missense_Mutation	SNP	C	TCGA-E1-5322-01A-01D-1468-08	38059776	97331097	36520798	31	23211											
NALCN	259232	broad.mit.edu	37	13	101763560	101763560	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr13:101763560C>T	ENST00000251127.6	-	19	2291	c.2210G>A	c.(2209-2211)cGc>cAc	p.R737H		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	737						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GCTCAGCATGCGCTGTCGGGT	0.468													5	260					0	0	0.217242	0	0	T	101763560	C	T	101763560	3	4	162	1	0	0	0	0	1	0	0	0	10196	768	27	1	3110	1	NALCN	13	101763560	Missense_Mutation	SNP	C	TCGA-E1-5322-01A-01D-1468-08		101763560	13406318	32	23212											
TNRC6A	27327	broad.mit.edu	37	16	24826581	24826581	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr16:24826581C>T	ENST00000395799.3	+	19	4915	c.4786C>T	c.(4786-4788)Cgt>Tgt	p.R1596C	TNRC6A_ENST00000432286.2_Missense_Mutation_p.R74C|CTD-2515A14.1_ENST00000568895.1_RNA|TNRC6A_ENST00000315183.7_Missense_Mutation_p.R1547C	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	1596					negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		TGGCTGGCCACGTGCCAAATC	0.448													58	88					0	0	0.870114	0	0	T	24826581	C	T	24826581	3	4	162	1	0	0	0	0	1	0	0	0	16400	536	19	1	4860	1	TNRC6A	16	24826581	Missense_Mutation	SNP	C	TCGA-E1-5322-01A-01D-1468-08		24826581	65528172	33	23213											
FTO	79068	broad.mit.edu	37	16	53907734	53907734	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr16:53907734C>T	ENST00000471389.1	+	5	1154	c.932C>T	c.(931-933)gCc>gTc	p.A311V	FTO_ENST00000394647.3_Missense_Mutation_p.A15V	NM_001080432.2	NP_001073901.1	Q9C0B1	FTO_HUMAN	fat mass and obesity associated	311	Fe2OG dioxygenase domain.				DNA dealkylation involved in DNA repair|oxidative single-stranded DNA demethylation|oxidative single-stranded RNA demethylation|RNA repair	nucleus	DNA-N1-methyladenine dioxygenase activity|ferrous iron binding|oxidative DNA demethylase activity|oxidative RNA demethylase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			endometrium(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						TGTGTTTTGGCCGGTTCACAA	0.383													4	225					0	0	0.150653	0	0	T	53907734	C	T	53907734	3	4	162	1	0	0	0	0	1	0	0	0	6121	739	26	2	950	2	FTO	16	53907734	Missense_Mutation	SNP	C	TCGA-E1-5322-01A-01D-1468-08	29081153	53907734	36447019	34	23214											
TP53	7157	broad.mit.edu	37	17	7578442	7578442	+	Missense_Mutation	SNP	T	T	C	rs148924904		TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr17:7578442T>C	ENST00000420246.2	-	5	620	c.488A>G	c.(487-489)tAc>tGc	p.Y163C	TP53_ENST00000455263.2_Missense_Mutation_p.Y163C|TP53_ENST00000359597.4_Missense_Mutation_p.Y163C|TP53_ENST00000413465.2_Missense_Mutation_p.Y163C|TP53_ENST00000269305.4_Missense_Mutation_p.Y163C|TP53_ENST00000445888.2_Missense_Mutation_p.Y163C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	163	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.Y163C(134)|p.Y70C(12)|p.Y31C(12)|p.0?(8)|p.Y163S(7)|p.V157_C176del20(1)|p.Y31S(1)|p.Y163fs*1(1)|p.Y70S(1)|p.Y163_Q165delYKQ(1)|p.P151_V173del23(1)|p.Y163fs*14(1)|p.S149fs*72(1)|p.A159_Q167delAMAIYKQSQ(1)|p.I162_Y163delIY(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)		TGACTGCTTGTAGATGGCCAT	0.622		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)			129	20					0	0	0.870114	0	0	C	7578442	T	C	7578442	3	2	162	1	0	0	0	0	1	0	0	0	16442	1638	57	3	810	3	TP53	17	7578442	Missense_Mutation	SNP	T	TCGA-E1-5322-01A-01D-1468-08		7578442	73616768	35	23215											
GLP2R	9340	broad.mit.edu	37	17	9757822	9757822	+	Translation_Start_Site	SNP	A	A	T			TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr17:9757822A>T	ENST00000574745.1	+	0	406				GLP2R_ENST00000262441.5_Missense_Mutation_p.Y172F			O95838	GLP2R_HUMAN	glucagon-like peptide 2 receptor						G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of cell proliferation	integral to membrane|plasma membrane				endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	44					Glucagon recombinant(DB00040)	GTGGATCGTTATGCCTTGCTG	0.552													99	825					0	0	0.870114	0	0	T	9757822	A	T	9757822	1	4	162	1	0	0	0	0	0	0	0	0	6495	449	16	4		4	GLP2R	17	9757822	Translation_Start_Site	SNP	A	TCGA-E1-5322-01A-01D-1468-08	2179380	9757822	71437388	36	23216											
NEK8	284086	broad.mit.edu	37	17	27065006	27065006	+	Silent	SNP	C	C	T			TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr17:27065006C>T	ENST00000268766.6	+	7	1093	c.1059C>T	c.(1057-1059)ctC>ctT	p.L353L	AC010761.6_ENST00000584779.1_RNA	NM_178170.2	NP_835464.1	Q86SG6	NEK8_HUMAN	NIMA-related kinase 8	353						cytoplasm|primary cilium	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Lung NSC(42;0.0158)					CTGGGCGTCTCATCCTGTGGG	0.701													40	55					0	0	0.840704	0	0	T	27065006	C	T	27065006	2	4	162	1	0	0	0	0	0	0	0	1	10377	813	29	2		2	NEK8	17	27065006	Silent	SNP	C	TCGA-E1-5322-01A-01D-1468-08	17307184	27065006	54130204	37	23217											
WNT9B	7484	broad.mit.edu	37	17	44953783	44953783	+	Missense_Mutation	SNP	G	G	A	rs149931425	by1000genomes	TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr17:44953783G>A	ENST00000393461.2	+	4	826	c.773G>A	c.(772-774)cGc>cAc	p.R258H	WNT9B_ENST00000290015.2_Missense_Mutation_p.R258H			O14905	WNT9B_HUMAN	wingless-type MMTV integration site family, member 9B	258					anterior/posterior pattern formation|axis specification|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|collecting duct development|cornea development in camera-type eye|endoderm development|establishment of planar polarity involved in nephron morphogenesis|kidney rudiment formation|male genitalia development|mesonephric duct formation|metanephric tubule development|neuron differentiation|palate development|regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|uterus morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway|Wnt receptor signaling pathway, planar cell polarity pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|G-protein-coupled receptor binding			large_intestine(2)|lung(8)	10			BRCA - Breast invasive adenocarcinoma(9;0.0257)			GCCTTGGGCCGCCTAGAGCTG	0.642													52	80					0	0	0.870114	0	0	A	44953783	G	A	44953783	3	1	162	1	0	0	0	0	1	0	0	0	17459	1087	38	1	787	1	WNT9B	17	44953783	Missense_Mutation	SNP	G	TCGA-E1-5322-01A-01D-1468-08	17888777	44953783	36241427	38	23218											
NLRP12	91662	broad.mit.edu	37	19	54314485	54314485	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr19:54314485C>T	ENST00000324134.6	-	3	596	c.428G>A	c.(427-429)cGc>cAc	p.R143H	NLRP12_ENST00000354278.3_Missense_Mutation_p.R143H|NLRP12_ENST00000391772.1_Missense_Mutation_p.R143H|NLRP12_ENST00000391775.3_Missense_Mutation_p.R143H|NLRP12_ENST00000535162.1_Missense_Mutation_p.R143H|NLRP12_ENST00000351894.4_Missense_Mutation_p.R143H|NLRP12_ENST00000391773.1_Missense_Mutation_p.R143H|NLRP12_ENST00000345770.5_Missense_Mutation_p.R143H	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	143					negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		GCGCGCATTGCGGTCTTCCAT	0.567													4	159					0	0	0.184627	0	0	T	54314485	C	T	54314485	3	4	162	1	0	0	0	0	1	0	0	0	10521	768	27	1	2885	1	NLRP12	19	54314485	Missense_Mutation	SNP	C	TCGA-E1-5322-01A-01D-1468-08		54314485	4814498	39	23219											
IDH3B	3420	broad.mit.edu	37	20	2640677	2640677	+	Splice_Site	SNP	G	G	A			TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr20:2640677G>A	ENST00000380843.4	-	9	944	c.914C>T	c.(913-915)aCg>aTg	p.T305M	IDH3B_ENST00000488299.1_5'UTR|IDH3B_ENST00000380851.5_Splice_Site_p.T305M	NM_006899.3	NP_008830.2	O43837	IDH3B_HUMAN	isocitrate dehydrogenase 3 (NAD+) beta	305					isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	electron carrier activity|isocitrate dehydrogenase (NAD+) activity|magnesium ion binding|NAD binding			breast(1)|endometrium(3)|kidney(2)|lung(7)|prostate(1)	14					NADH(DB00157)	CAGCCTCACCGTCTCAAAGAC	0.537													8	327					0	0	0.335167	0	0	A	2640677	G	A	2640677	5	1	162	1	0	0	0	0	0	0	1	0	7541	1159	40	1	344	1	IDH3B	20	2640677	Splice_Site	SNP	G	TCGA-E1-5322-01A-01D-1468-08		2640677	60384843	40	23220											
PDHA1	5160	broad.mit.edu	37	X	19369427	19369427	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chrX:19369427G>A	ENST00000379806.5	+	5	579	c.434G>A	c.(433-435)gGc>gAc	p.G145D	PDHA1_ENST00000540249.1_Missense_Mutation_p.G107D|PDHA1_ENST00000379805.3_Missense_Mutation_p.G107D|PDHA1_ENST00000545074.1_Missense_Mutation_p.G114D|PDHA1_ENST00000422285.2_Missense_Mutation_p.G107D	NM_001173454.1	NP_001166925.1	P08559	ODPA_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 1	107					glycolysis|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	protein binding|pyruvate dehydrogenase (acetyl-transferring) activity			endometrium(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)	18	Hepatocellular(33;0.183)				NADH(DB00157)	CTGGAGGCCGGCATCAACCCC	0.507													4	183					0	0	0.150653	0	0	A	19369427	G	A	19369427	3	1	162	1	0	0	0	0	1	0	0	0	11711	1203	42	2	473	2	PDHA1	23	19369427	Missense_Mutation	SNP	G	TCGA-E1-5322-01A-01D-1468-08		19369427	135901133	41	23221											
ATRX	546	broad.mit.edu	37	X	76944356	76944356	+	Frame_Shift_Del	DEL	T	T	-			TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chrX:76944356delT	ENST00000373344.5	-	7	763	c.549delA	c.(547-549)aaafs	p.K183fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.K145fs	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	183	ADD.		Missing (in ATRX).		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)	AAATGGAATCTTTTTGAAAAT	0.353			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						157	237	---	---	---	---						-	76944356	T	-	76944356	7	5	162	1	0	1	0	1	0	0	0	0	1206	1606	56	0	7045	0	ATRX	23	76944356	Frame_Shift_Del	DEL	T	TCGA-E1-5322-01A-01D-1468-08	57574929	76944356	78326204	42	23222											
RGAG1	57529	broad.mit.edu	37	X	109695813	109695813	+	Silent	SNP	G	G	A			TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chrX:109695813G>A	ENST00000465301.2	+	3	2214	c.1968G>A	c.(1966-1968)ccG>ccA	p.P656P	RGAG1_ENST00000540313.1_Silent_p.P656P	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	656										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						TGTCCATGCCGCAAATGACAG	0.502													4	166					0	0	0.150653	0	0	A	109695813	G	A	109695813	2	1	162	1	0	0	0	0	0	0	0	1	13326	1074	38	1		1	RGAG1	23	109695813	Silent	SNP	G	TCGA-E1-5322-01A-01D-1468-08	32751457	109695813	45574747	43	23223											
MAP7D3	79649	broad.mit.edu	37	X	135323365	135323365	+	Missense_Mutation	SNP	T	T	A			TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chrX:135323365T>A	ENST00000316077.9	-	5	709	c.489A>T	c.(487-489)agA>agT	p.R163S	MAP7D3_ENST00000370663.5_Missense_Mutation_p.R145S|MAP7D3_ENST00000370661.1_Missense_Mutation_p.R163S	NM_024597.3	NP_078873.2	Q8IWC1	MA7D3_HUMAN	MAP7 domain containing 3	163						cytoplasm|spindle				central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1)	44	Acute lymphoblastic leukemia(192;0.000127)					CCCATGACCATCTTTTTTGCT	0.323													84	118					0	0	0.870114	0	0	A	135323365	T	A	135323365	3	1	162	1	0	0	0	0	1	0	0	0	9319	1432	50	4	2197	4	MAP7D3	23	135323365	Missense_Mutation	SNP	T	TCGA-E1-5322-01A-01D-1468-08	25627552	135323365	19947195	44	23224											
TMCO4	255104	broad.mit.edu	37	1	20072024	20072024	+	Splice_Site	SNP	C	C	T	rs145825608	byFrequency	TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr1:20072024C>T	ENST00000294543.6	-	10	1119		c.e10+1		TMCO4_ENST00000375122.2_Intron|TMCO4_ENST00000375127.1_Splice_Site	NM_181719.4	NP_859070.3	Q5TGY1	TMCO4_HUMAN	transmembrane and coiled-coil domains 4							integral to membrane				biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00708)|COAD - Colon adenocarcinoma(152;2.28e-05)|BRCA - Breast invasive adenocarcinoma(304;5.8e-05)|Kidney(64;0.000367)|GBM - Glioblastoma multiforme(114;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00459)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0862)|Lung(427;0.223)		CTGGTCCTCACGGTATTTGCC	0.612													31	104					0	0	1	0	0	T	20072024	C	T	20072024	5	4	163	1	0	0	0	0	0	0	1	0	16058	550	19	1	1054	1	TMCO4	1	20072024	Splice_Site	SNP	C	TCGA-E1-A7YD-01A-11D-A34A-08		20072024	229178597	1	23225											
LAPTM5	7805	broad.mit.edu	37	1	31211793	31211793	+	Missense_Mutation	SNP	G	G	T			TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr1:31211793G>T	ENST00000294507.3	-	5	578	c.504C>A	c.(502-504)aaC>aaA	p.N168K		NM_006762.2	NP_006753.1	Q13571	LAPM5_HUMAN	lysosomal protein transmembrane 5	168					transport	integral to plasma membrane|lysosomal membrane				large_intestine(2)|lung(7)|skin(1)	10		Colorectal(325;0.0199)|Myeloproliferative disorder(586;0.0393)|all_neural(195;0.0966)|Medulloblastoma(700;0.151)|Ovarian(437;0.192)		STAD - Stomach adenocarcinoma(196;0.0196)|READ - Rectum adenocarcinoma(331;0.0649)		TCACCATGTGGTTCATGGACT	0.552													7	15					2.7689e-08	2.95985e-08	1	1	0	T	31211793	G	T	31211793	3	4	163	1	0	0	0	0	1	0	0	0	8665	1252	44	5	300	5	LAPTM5	1	31211793	Missense_Mutation	SNP	G	TCGA-E1-A7YD-01A-11D-A34A-08	11139769	31211793	218038828	2	23226											
IPO13	9670	broad.mit.edu	37	1	44415582	44415582	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr1:44415582G>A	ENST00000372343.3	+	2	1240	c.578G>A	c.(577-579)aGc>aAc	p.S193N		NM_014652.3	NP_055467.3	O94829	IPO13_HUMAN	importin 13	193					protein import into nucleus	cytoplasm|nucleus	protein binding|protein transporter activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)				GTGCGGACCAGCCTGGCGGTG	0.632													18	13					0	0	1	0	0	A	44415582	G	A	44415582	3	1	163	1	0	0	0	0	1	0	0	0	7838	971	34	2	584	2	IPO13	1	44415582	Missense_Mutation	SNP	G	TCGA-E1-A7YD-01A-11D-A34A-08	13203789	44415582	204835039	3	23227											
DNASE2B	58511	broad.mit.edu	37	1	84880391	84880391	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr1:84880391G>A	ENST00000370665.3	+	6	959	c.926G>A	c.(925-927)tGt>tAt	p.C309Y	DNASE2B_ENST00000370662.3_Missense_Mutation_p.C101Y	NM_021233.2	NP_067056.2	Q8WZ79	DNS2B_HUMAN	deoxyribonuclease II beta	309					DNA metabolic process	lysosome	deoxyribonuclease II activity			endometrium(1)|lung(4)|skin(1)	6				all cancers(265;0.00303)|Epithelial(280;0.0112)|OV - Ovarian serous cystadenocarcinoma(397;0.0808)		GCCAAGTGGTGTATTTCCCAA	0.413													24	71					0	0	1	0	0	A	84880391	G	A	84880391	3	1	163	1	0	0	0	0	1	0	0	0	4692	1377	48	2	948	2	DNASE2B	1	84880391	Missense_Mutation	SNP	G	TCGA-E1-A7YD-01A-11D-A34A-08	40464809	84880391	164370230	4	23228											
OR10R2	343406	broad.mit.edu	37	1	158450293	158450293	+	Missense_Mutation	SNP	G	G	T			TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr1:158450293G>T	ENST00000368152.1	+	1	626	c.626G>T	c.(625-627)tGt>tTt	p.C209F	RP11-144L1.4_ENST00000426251.1_RNA|RP11-144L1.4_ENST00000419738.1_RNA	NM_001004472.1	NP_001004472.1	Q8NGX6	O10R2_HUMAN	olfactory receptor, family 10, subfamily R, member 2	209					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(26)|pancreas(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	41	all_hematologic(112;0.0378)					CTTCTGGCTTGTACCAACACA	0.378													88	141					2.0191e-50	2.26236e-50	1	1	0	T	158450293	G	T	158450293	3	4	163	1	0	0	0	0	1	0	0	0	10965	1377	48	5	628	5	OR10R2	1	158450293	Missense_Mutation	SNP	G	TCGA-E1-A7YD-01A-11D-A34A-08	73569902	158450293	90800328	5	23229											
OR6Y1	391112	broad.mit.edu	37	1	158517709	158517709	+	Missense_Mutation	SNP	G	G	C			TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr1:158517709G>C	ENST00000302617.3	-	1	186	c.187C>G	c.(187-189)Ccc>Gcc	p.P63A		NM_001005189.1	NP_001005189.1	Q8NGX8	OR6Y1_HUMAN	olfactory receptor, family 6, subfamily Y, member 1	63					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_hematologic(112;0.0378)					AAGTACATGGGCTTATGCAGC	0.473													3	61					0	0	1	0	0	C	158517709	G	C	158517709	3	2	163	1	0	0	0	0	1	0	0	0	11260	1203	42	5	792	5	OR6Y1	1	158517709	Missense_Mutation	SNP	G	TCGA-E1-A7YD-01A-11D-A34A-08	67416	158517709	90732912	6	23230											
LEMD1	93273	broad.mit.edu	37	1	205350789	205350789	+	Silent	SNP	A	A	T			TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr1:205350789A>T	ENST00000367153.4	-	6	645	c.543T>A	c.(541-543)ggT>ggA	p.G181G	LEMD1_ENST00000367154.1_3'UTR|LEMD1-AS1_ENST00000447832.1_RNA|LEMD1_ENST00000367149.3_3'UTR|LEMD1_ENST00000476884.1_5'UTR|LEMD1_ENST00000367152.1_Silent_p.G140G|LEMD1_ENST00000367151.2_Silent_p.G140G|LEMD1_ENST00000391936.2_3'UTR	NM_001199050.1	NP_001185979.1	Q68G75	LEMD1_HUMAN	LEM domain containing 1	181						integral to membrane|nuclear envelope				breast(1)|lung(2)	3	Breast(84;0.247)		BRCA - Breast invasive adenocarcinoma(75;0.0938)			AAATTACTTAACCAAACAGCG	0.488													22	129					0	0	1	0	0	T	205350789	A	T	205350789	2	4	163	1	0	0	0	0	0	0	0	1	8758	58	2	5		5	LEMD1	1	205350789	Silent	SNP	A	TCGA-E1-A7YD-01A-11D-A34A-08	46833080	205350789	43899832	7	23231											
RYR2	6262	broad.mit.edu	37	1	237758859	237758859	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr1:237758859C>T	ENST00000366574.2	+	34	4815	c.4498C>T	c.(4498-4500)Cgc>Tgc	p.R1500C	RYR2_ENST00000360064.6_Missense_Mutation_p.R1498C|RYR2_ENST00000542537.1_Missense_Mutation_p.R1484C	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1500	4 X approximate repeats.|B30.2/SPRY 3.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CGGGCAAGGACGCAACAATAA	0.483													21	27					0	0	1	0	0	T	237758859	C	T	237758859	3	4	163	1	0	0	0	0	1	0	0	0	13821	536	19	1	4632	1	RYR2	1	237758859	Missense_Mutation	SNP	C	TCGA-E1-A7YD-01A-11D-A34A-08	32408070	237758859	11491762	8	23232											
SNTG2	54221	broad.mit.edu	37	2	1204826	1204826	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr2:1204826C>T	ENST00000308624.5	+	9	758	c.629C>T	c.(628-630)cCg>cTg	p.P210L	SNTG2_ENST00000407292.1_Missense_Mutation_p.P83L|SNTG2_ENST00000467759.1_3'UTR	NM_018968.3	NP_061841.2	Q9NY99	SNTG2_HUMAN	syntrophin, gamma 2	210					central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	actin binding|PDZ domain binding	p.P210Q(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		GCTAAGGACCCGAGGTATGAG	0.567													31	58					0	0	1	0	0	T	1204826	C	T	1204826	3	4	163	1	0	0	0	0	1	0	0	0	14929	652	23	1	663	1	SNTG2	2	1204826	Missense_Mutation	SNP	C	TCGA-E1-A7YD-01A-11D-A34A-08		1204826	241994547	9	23233											
XDH	7498	broad.mit.edu	37	2	31589808	31589808	+	Silent	SNP	G	G	A			TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr2:31589808G>A	ENST00000379416.3	-	21	2298	c.2250C>T	c.(2248-2250)acC>acT	p.T750T		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	750					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	GAACAGCAATGGTGCAGTGAG	0.542													46	44					0	0	1	0	0	A	31589808	G	A	31589808	2	1	163	1	0	0	0	0	0	0	0	1	17486	1335	47	2		2	XDH	2	31589808	Silent	SNP	G	TCGA-E1-A7YD-01A-11D-A34A-08	30384982	31589808	211609565	10	23234											
LRP1B	53353	broad.mit.edu	37	2	141747212	141747212	+	Missense_Mutation	SNP	G	G	C			TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr2:141747212G>C	ENST00000389484.3	-	17	3630	c.2659C>G	c.(2659-2661)Cct>Gct	p.P887A		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	887	LDL-receptor class A 4.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TGATCATCAGGACAGCTATGA	0.383										TSP Lung(27;0.18)			35	58					0	0	1	0	0	C	141747212	G	C	141747212	3	2	163	1	0	0	0	0	1	0	0	0	9000	1174	41	5	11440	5	LRP1B	2	141747212	Missense_Mutation	SNP	G	TCGA-E1-A7YD-01A-11D-A34A-08	110157404	141747212	101452161	11	23235											
COL6A3	1293	broad.mit.edu	37	2	238289918	238289918	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr2:238289918G>A	ENST00000295550.4	-	5	1989	c.1537C>T	c.(1537-1539)Cgg>Tgg	p.R513W	COL6A3_ENST00000392004.3_Missense_Mutation_p.R307W|COL6A3_ENST00000392003.2_Missense_Mutation_p.R106W|COL6A3_ENST00000346358.4_Missense_Mutation_p.R513W|COL6A3_ENST00000472056.1_Missense_Mutation_p.R106W|COL6A3_ENST00000347401.3_Missense_Mutation_p.R312W|COL6A3_ENST00000409809.1_Missense_Mutation_p.R307W|COL6A3_ENST00000353578.4_Missense_Mutation_p.R307W	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	513	Nonhelical region.|VWFA 3.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		TTCATTTTCCGCACAGCGGTT	0.527													113	141					0	0	1	0	0	A	238289918	G	A	238289918	3	1	163	1	0	0	0	0	1	0	0	0	3724	1086	38	1	8203	1	COL6A3	2	238289918	Missense_Mutation	SNP	G	TCGA-E1-A7YD-01A-11D-A34A-08	96542706	238289918	4909455	12	23236											
FARP2	9855	broad.mit.edu	37	2	242433520	242433520	+	Missense_Mutation	SNP	G	G	C			TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr2:242433520G>C	ENST00000264042.3	+	27	3315	c.3145G>C	c.(3145-3147)Gtc>Ctc	p.V1049L	STK25_ENST00000316586.4_3'UTR	NM_014808.2	NP_055623.1	O94887	FARP2_HUMAN	FERM, RhoGEF and pleckstrin domain protein 2	1049					axon guidance|neuron remodeling|Rac protein signal transduction|regulation of Rho protein signal transduction	cytoskeleton|cytosol|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	43		all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121)		GGAGGGGATGGTCAGGGGGAA	0.617													14	51					0	0	1	0	0	C	242433520	G	C	242433520	3	2	163	1	0	0	0	0	1	0	0	0	5710	1261	44	5	3247	5	FARP2	2	242433520	Missense_Mutation	SNP	G	TCGA-E1-A7YD-01A-11D-A34A-08	4143602	242433520	765853	13	23237											
EXOG	9941	broad.mit.edu	37	3	38565450	38565450	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr3:38565450G>A	ENST00000287675.5	+	6	800	c.704G>A	c.(703-705)cGc>cAc	p.R235H	EXOG_ENST00000422077.2_Missense_Mutation_p.R185H|EXOG_ENST00000358249.2_Intron	NM_005107.3	NP_005098.2	Q9Y2C4	EXOG_HUMAN	endo/exonuclease (5'-3'), endonuclease G-like	235						mitochondrial inner membrane	endonuclease activity|metal ion binding|nucleic acid binding			central_nervous_system(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	17						ATCCTGGCCCGCAGAAGCTCA	0.507													4	81					0	0	1	0	0	A	38565450	G	A	38565450	3	1	163	1	0	0	0	0	1	0	0	0	5339	1087	38	1	726	1	EXOG	3	38565450	Missense_Mutation	SNP	G	TCGA-E1-A7YD-01A-11D-A34A-08		38565450	159456980	14	23238											
IQCF2	389123	broad.mit.edu	37	3	51897231	51897231	+	Missense_Mutation	SNP	C	C	T	rs140755124		TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr3:51897231C>T	ENST00000333127.3	+	3	369	c.340C>T	c.(340-342)Cgt>Tgt	p.R114C	IQCF2_ENST00000429548.1_3'UTR	NM_203424.1	NP_982248.1	Q8IXL9	IQCF2_HUMAN	IQ motif containing F2	114	IQ 2.									endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	10				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		CCGTATGTGGCGTGTCCGCTG	0.597													44	32					0	0	1	0	0	T	51897231	C	T	51897231	3	4	163	1	0	0	0	0	1	0	0	0	7852	768	27	1	350	1	IQCF2	3	51897231	Missense_Mutation	SNP	C	TCGA-E1-A7YD-01A-11D-A34A-08	13331781	51897231	146125199	15	23239											
OR5H15	403274	broad.mit.edu	37	3	97888411	97888411	+	Missense_Mutation	SNP	T	T	C			TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr3:97888411T>C	ENST00000356526.2	+	1	868	c.868T>C	c.(868-870)Tac>Cac	p.Y290H		NM_001005515.1	NP_001005515.1	A6NDH6	O5H15_HUMAN	olfactory receptor, family 5, subfamily H, member 15	290					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(2)|stomach(1)	35						TCCTATCATCTACAGTCTGAG	0.333													4	95					0	0	1	0	0	C	97888411	T	C	97888411	3	2	163	1	0	0	0	0	1	0	0	0	11208	1522	53	3	870	3	OR5H15	3	97888411	Missense_Mutation	SNP	T	TCGA-E1-A7YD-01A-11D-A34A-08	45991180	97888411	100134019	16	23240											
PIK3CA	5290	broad.mit.edu	37	3	178916614	178916614	+	Translation_Start_Site	SNP	A	A	G			TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr3:178916614A>G	ENST00000263967.3	+	2	158	c.1A>G	c.(1-3)Atg>Gtg	p.M1V		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1					epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.M1V(2)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			AATCAGAACAATGCCTCCACG	0.378		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			33	14					0	0	1	0	0	G	178916614	A	G	178916614	1	3	163	1	0	0	0	0	0	0	0	0	11961	101	4	3		3	PIK3CA	3	178916614	Translation_Start_Site	SNP	A	TCGA-E1-A7YD-01A-11D-A34A-08	81028203	178916614	19105816	17	23241											
KIT	3815	broad.mit.edu	37	4	55593606	55593606	+	Missense_Mutation	SNP	A	A	G	rs121913511		TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr4:55593606A>G	ENST00000288135.5	+	11	1769	c.1672A>G	c.(1672-1674)Aag>Gag	p.K558E		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	558			Missing (in GIST; somatic mutation).		male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular space|integral to membrane	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity	p.W557_K558del(120)|p.W557_V559>F(18)|p.W557_E561del(17)|p.W557_V559>C(9)|p.Y553_K558>(8)|p.E554_K558del(8)|p.K550_K558del(7)|p.W557_V559del(7)|p.Q556_V560del(6)|p.K558_V560del(5)|p.Y553_K558del(4)|p.K558_V559del(3)|p.W557_V560>C(3)|p.Y553_T574>S(3)|p.K558_E562del(3)|p.V555_K558del(3)|p.V555_I571del(3)|p.M552_W557del(3)|p.V555_V560del(3)|p.V555_P573del(3)|p.Q556_V560>H(3)|p.V555_V559del(3)|p.W557_K558>CP(3)|p.W557_K558>E(2)|p.Q556_L576del(2)|p.K558_N564del(2)|p.K558_V559>SS(2)|p.K558E(2)|p.W557_Q575del(2)|p.K550fs*6(2)|p.Q556_K558del(2)|p.K550_V559del(2)|p.V555_E562del(2)|p.W557_V560del(2)|p.Q556_V559del(2)|p.W557_P573>S(2)|p.W557_K558>FP(1)|p.V555_G565del(1)|p.Q556_N566>SNNLQLY(1)|p.W557_K558>C(1)|p.P551_K558del(1)|p.Q556_V559>H(1)|p.M552_E561>K(1)|p.V555_I563del(1)|p.W557_K558>S(1)|p.Q556_K558>HPCR(1)|p.E554_I571del(1)|p.K558_Q575del(1)|p.Q556_V560>F(1)|p.V555_Y570del(1)|p.M552_T574>TESA(1)|p.W557_K558>SS(1)|p.Q556_D572>PS(1)|p.K558*(1)|p.Q556_D572del(1)|p.K558_G565del(1)|p.W557_E562del(1)|p.V555_N566>D(1)|p.V555_V560>V(1)|p.Q556_V560>HNLQLY(1)|p.W557_K558>CT(1)|p.M552_K558del(1)|p.Q556_E561del(1)|p.Q556_K558>H(1)|p.Q556_E561>HH(1)|p.W557_V560>F(1)|p.W557_I571del(1)|p.Q556_K558>R(1)|p.E554_N564del(1)|p.Q556_V560>TTF(1)|p.Q556_D572>H(1)|p.W557_V559>I(1)|p.M552_D572del(1)|p.Y553_V559>E(1)|p.Q556_T574del(1)|p.P551_V559del>L(1)|p.Q556_P573del(1)|p.E554_D572del(1)|p.Q556_V559>HT(1)|p.E554_E562del(1)|p.Y553_V559del(1)|p.K558_D572del(1)		NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	AGTACAGTGGAAGGTTGTTGA	0.383		1	"Mis, O"		"GIST, AML, TGCT, mastocytosis, mucosal melanoma"	"GIST, epithelioma"	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors				47	280					0	0	1	0	0	G	55593606	A	G	55593606	3	3	163	1	0	0	0	0	1	0	0	0	8372	247	9	3	1714	3	KIT	4	55593606	Missense_Mutation	SNP	A	TCGA-E1-A7YD-01A-11D-A34A-08		55593606	135560670	18	23242											
POLR2B	5431	broad.mit.edu	37	4	57871589	57871589	+	Frame_Shift_Del	DEL	A	A	-			TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr4:57871589delA	ENST00000381227.1	+	9	1491	c.1078delA	c.(1078-1080)aaafs	p.K361fs	POLR2B_ENST00000431623.2_Frame_Shift_Del_p.K286fs|POLR2B_ENST00000441246.2_Frame_Shift_Del_p.K354fs|POLR2B_ENST00000314595.5_Frame_Shift_Del_p.K361fs			P30876	RPB2_HUMAN	polymerase (RNA) II (DNA directed) polypeptide B, 140kDa	361					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1)	52	Glioma(25;0.08)|all_neural(26;0.181)					TTGTGAGACCAAAAAAGCCTA	0.313													7	381	---	---	---	---						-	57871589	A	-	57871589	7	5	163	1	0	1	0	1	0	0	0	0	12263	131	5	0	1108	0	POLR2B	4	57871589	Frame_Shift_Del	DEL	A	TCGA-E1-A7YD-01A-11D-A34A-08	2277983	57871589	133282687	19	23243											
TRIM36	55521	broad.mit.edu	37	5	114469804	114469804	+	Silent	SNP	A	A	G			TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr5:114469804A>G	ENST00000513154.1	-	8	1577	c.1251T>C	c.(1249-1251)gtT>gtC	p.V417V	TRIM36_ENST00000282369.3_Silent_p.V429V|TRIM36_ENST00000514154.1_Silent_p.V274V			Q9NQ86	TRI36_HUMAN	tripartite motif containing 36	429	Fibronectin type-III.					acrosomal vesicle|cytoskeleton	ligase activity|zinc ion binding			breast(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	37		all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06)		CATTGTTATAAACTTTGCTCT	0.328													3	68					0	0	1	0	0	G	114469804	A	G	114469804	2	3	163	1	0	0	0	0	0	0	0	1	16571	1	1	3		3	TRIM36	5	114469804	Silent	SNP	A	TCGA-E1-A7YD-01A-11D-A34A-08		114469804	66445456	20	23244											
AFF4	27125	broad.mit.edu	37	5	132216761	132216761	+	Nonsense_Mutation	SNP	A	A	T			TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr5:132216761A>T	ENST00000265343.5	-	21	3861	c.3482T>A	c.(3481-3483)tTg>tAg	p.L1161*		NM_014423.3	NP_055238.1	Q9UHB7	AFF4_HUMAN	AF4/FMR2 family, member 4	1161					transcription from RNA polymerase II promoter	mitochondrion|nucleolus	protein binding|sequence-specific DNA binding transcription factor activity		SEPT8/AFF4(2)	breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(7)|lung(11)|ovary(3)|pancreas(1)|prostate(3)|skin(2)	43		all_cancers(142;0.145)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TCAAGATATCAACTTGGCATC	0.458													55	68					0	0	1	0	0	T	132216761	A	T	132216761	4	4	163	1	0	0	0	0	0	1	0	0	358	131	5	5	13	5	AFF4	5	132216761	Nonsense_Mutation	SNP	A	TCGA-E1-A7YD-01A-11D-A34A-08	17746957	132216761	48698499	21	23245											
ABLIM3	22885	broad.mit.edu	37	5	148619346	148619346	+	Missense_Mutation	SNP	C	C	T	rs150488528	byFrequency	TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr5:148619346C>T	ENST00000506113.1	+	12	1581	c.1099C>T	c.(1099-1101)Cgg>Tgg	p.R367W	ABLIM3_ENST00000504238.1_Missense_Mutation_p.R305W|ABLIM3_ENST00000508983.1_Missense_Mutation_p.R367W|RP11-331K21.1_ENST00000522685.1_RNA|ABLIM3_ENST00000519549.1_3'UTR|ABLIM3_ENST00000326685.7_Missense_Mutation_p.R305W|ABLIM3_ENST00000309868.7_Missense_Mutation_p.R367W|ABLIM3_ENST00000356541.3_Missense_Mutation_p.R305W|RP11-331K21.1_ENST00000512647.2_RNA|AC012613.2_ENST00000523176.1_RNA			O94929	ABLM3_HUMAN	actin binding LIM protein family, member 3	367					axon guidance|cytoskeleton organization	cytoplasm	actin binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTGGACCTCCGGCAGAGACG	0.642													39	63					0	0	1	0	0	T	148619346	C	T	148619346	3	4	163	1	0	0	0	0	1	0	0	0	96	643	23	1	1145	1	ABLIM3	5	148619346	Missense_Mutation	SNP	C	TCGA-E1-A7YD-01A-11D-A34A-08	16402585	148619346	32295914	22	23246											
PDGFRB	5159	broad.mit.edu	37	5	149513469	149513469	+	Missense_Mutation	SNP	A	A	C			TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr5:149513469A>C	ENST00000261799.4	-	5	1203	c.734T>G	c.(733-735)tTc>tGc	p.F245C		NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor, beta polypeptide	245	Ig-like C2-type 3.				aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	TGTCCACTCGAAGTTGACCAC	0.567			T	"ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"	"MPD, AML, CMML, CML"								26	17					0	0	1	0	0	C	149513469	A	C	149513469	3	2	163	1	0	0	0	0	1	0	0	0	11709	246	9	5	2662	5	PDGFRB	5	149513469	Missense_Mutation	SNP	A	TCGA-E1-A7YD-01A-11D-A34A-08	894123	149513469	31401791	23	23247											
E2F3	1871	broad.mit.edu	37	6	20488347	20488347	+	Silent	SNP	C	C	T			TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr6:20488347C>T	ENST00000346618.3	+	6	1069	c.1003C>T	c.(1003-1005)Cta>Tta	p.L335L	E2F3_ENST00000535432.1_Silent_p.L204L	NM_001949.4	NP_001940.1	O00716	E2F3_HUMAN	E2F transcription factor 3	335	Dimerization (Potential).				G1 phase of mitotic cell cycle|G2 phase of mitotic cell cycle|transcription initiation from RNA polymerase II promoter	transcription factor complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(3)	7	all_cancers(95;0.154)|all_epithelial(95;0.0585)|Breast(50;0.146)|Ovarian(93;0.148)		OV - Ovarian serous cystadenocarcinoma(7;0.0068)|all cancers(50;0.0148)|Epithelial(50;0.0562)			TTCATAGAGCCTACAAATACA	0.373													13	104					0	0	1	0	0	T	20488347	C	T	20488347	2	4	163	1	0	0	0	0	0	0	0	1	4894	680	24	2		2	E2F3	6	20488347	Silent	SNP	C	TCGA-E1-A7YD-01A-11D-A34A-08		20488347	150626720	24	23248											
DAAM2	23500	broad.mit.edu	37	6	39828775	39828775	+	Silent	SNP	C	C	A			TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr6:39828775C>A	ENST00000538976.1	+	3	422	c.240C>A	c.(238-240)atC>atA	p.I80I	DAAM2_ENST00000274867.4_Silent_p.I80I|DAAM2_ENST00000405961.3_Silent_p.I80I|DAAM2_ENST00000398904.2_Silent_p.I80I|DAAM2_ENST00000494405.1_3'UTR	NM_015345.3	NP_056160.2	Q86T65	DAAM2_HUMAN	dishevelled associated activator of morphogenesis 2	80	GBD/FH3.				actin cytoskeleton organization		actin binding|Rho GTPase binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49	Ovarian(28;0.0355)|Colorectal(47;0.196)					AATGGCAGATCTACTGCAGCA	0.498													6	17					5.18039e-06	5.41322e-06	1	1	0	A	39828775	C	A	39828775	2	1	163	1	0	0	0	0	0	0	0	1	4240	903	32	4		4	DAAM2	6	39828775	Silent	SNP	C	TCGA-E1-A7YD-01A-11D-A34A-08	19340428	39828775	131286292	25	23249											
GSTA2	2939	broad.mit.edu	37	6	52616422	52616422	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr6:52616422C>T	ENST00000493422.1	-	6	654	c.499G>A	c.(499-501)Gtg>Atg	p.V167M		NM_000846.4	NP_000837.3	P09210	GSTA2_HUMAN	glutathione S-transferase alpha 2	167	GST C-terminal.				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Lung NSC(77;0.118)				Aminophenazone(DB01424)|Amsacrine(DB00276)|Busulfan(DB01008)|Chlorambucil(DB00291)|Chloroquine(DB00608)|Cinnarizine(DB00568)|Clofibrate(DB00636)|Ethacrynic acid(DB00903)|Glutathione(DB00143)|Mechlorethamine(DB00888)|Praziquantel(DB01058)|Vitamin E(DB00163)	AGCTCTTCCACGTAGTAGAGA	0.517													24	80					0	0	1	0	0	T	52616422	C	T	52616422	3	4	163	1	0	0	0	0	1	0	0	0	6872	536	19	1	177	1	GSTA2	6	52616422	Missense_Mutation	SNP	C	TCGA-E1-A7YD-01A-11D-A34A-08	12787647	52616422	118498645	26	23250											
LAMA2	3908	broad.mit.edu	37	6	129828695	129828695	+	Missense_Mutation	SNP	T	T	A			TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr6:129828695T>A	ENST00000421865.2	+	62	8814	c.8765T>A	c.(8764-8766)cTg>cAg	p.L2922Q		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	2922	Laminin G-like 4.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		CCTGCCGATCTGGAACAACCC	0.478													36	115					0	0	1	0	0	A	129828695	T	A	129828695	3	1	163	1	0	0	0	0	1	0	0	0	8645	1580	55	5	9011	5	LAMA2	6	129828695	Missense_Mutation	SNP	T	TCGA-E1-A7YD-01A-11D-A34A-08	77212273	129828695	41286372	27	23251											
IGF2R	3482	broad.mit.edu	37	6	160448256	160448256	+	Missense_Mutation	SNP	C	C	A			TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr6:160448256C>A	ENST00000356956.1	+	6	834	c.686C>A	c.(685-687)cCc>cAc	p.P229H		NM_000876.2	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	229					receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)		CGGGCCTGTCCCCCCGGCACT	0.552													26	17					1.75199e-13	1.91688e-13	1	1	0	A	160448256	C	A	160448256	3	1	163	1	0	0	0	0	1	0	0	0	7620	623	22	5	708	5	IGF2R	6	160448256	Missense_Mutation	SNP	C	TCGA-E1-A7YD-01A-11D-A34A-08	30619561	160448256	10666811	28	23252											
ZPBP	11055	broad.mit.edu	37	7	50023025	50023025	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr7:50023025C>T	ENST00000046087.2	-	7	943	c.874G>A	c.(874-876)Ggt>Agt	p.G292S	ZPBP_ENST00000419417.1_Missense_Mutation_p.G291S|ZPBP_ENST00000491129.1_5'UTR	NM_001159878.1|NM_007009.2	NP_001153350.1|NP_008940.2	Q9BS86	ZPBP1_HUMAN	zona pellucida binding protein	292					binding of sperm to zona pellucida	extracellular region		p.G292S(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(3)	29	Glioma(55;0.08)|all_neural(89;0.245)					TGGAGAGTACCTTCAATATAG	0.353													35	76					0	0	1	0	0	T	50023025	C	T	50023025	3	4	163	1	0	0	0	0	1	0	0	0	18261	681	24	2	189	2	ZPBP	7	50023025	Missense_Mutation	SNP	C	TCGA-E1-A7YD-01A-11D-A34A-08		50023025	109115638	29	23253											
STAG3L4	64940	broad.mit.edu	37	7	66774605	66774605	+	RNA	SNP	A	A	T			TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr7:66774605A>T	ENST00000416602.2	+	0	622					NR_040586.1		Q8TBR4	STG34_HUMAN												endometrium(2)|lung(5)	7		Lung NSC(55;0.0839)|all_lung(88;0.181)				AGTCTGCACGAAGATATCAAT	0.483													82	157					0	0	1	0	0	T	66774605	A	T	66774605	1	4	163	0	1	0	0	0	0	0	0	0	15303	246	9	5		5	STAG3L4	7	66774605	RNA	SNP	A	TCGA-E1-A7YD-01A-11D-A34A-08	16751580	66774605	92364058	30	23254											
FZD9	8326	broad.mit.edu	37	7	72849620	72849620	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr7:72849620G>A	ENST00000344575.3	+	1	1512	c.1283G>A	c.(1282-1284)cGc>cAc	p.R428H		NM_003508.2	NP_003499.1	O00144	FZD9_HUMAN	frizzled family receptor 9	428					B cell differentiation|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|neuroblast proliferation|vasculature development	cell surface|filopodium membrane|integral to membrane|perinuclear region of cytoplasm	G-protein coupled receptor activity|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|skin(1)	14		Lung NSC(55;0.0659)|all_lung(88;0.152)				TTCCACATCCGCAAGATCATG	0.617													17	28					0	0	1	0	0	A	72849620	G	A	72849620	3	1	163	1	0	0	0	0	1	0	0	0	6172	1087	38	1	1285	1	FZD9	7	72849620	Missense_Mutation	SNP	G	TCGA-E1-A7YD-01A-11D-A34A-08	6075015	72849620	86289043	31	23255											
PCLO	27445	broad.mit.edu	37	7	82580275	82580275	+	Missense_Mutation	SNP	T	T	A			TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr7:82580275T>A	ENST00000333891.9	-	6	9966	c.9629A>T	c.(9628-9630)cAa>cTa	p.Q3210L	PCLO_ENST00000423517.2_Missense_Mutation_p.Q3210L	NM_033026.5	NP_149015.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein		Gln-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CTGCTGCTGTTGTTTATCTTC	0.458													10	68					0	0	1	0	0	A	82580275	T	A	82580275	3	1	163	1	0	0	0	0	1	0	0	0	11630	1812	63	5	5896	5	PCLO	7	82580275	Missense_Mutation	SNP	T	TCGA-E1-A7YD-01A-11D-A34A-08	9730655	82580275	76558388	32	23256											
MUC17	140453	broad.mit.edu	37	7	100679149	100679149	+	Silent	SNP	T	T	C			TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr7:100679149T>C	ENST00000306151.4	+	3	4516	c.4452T>C	c.(4450-4452)agT>agC	p.S1484S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1484	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					ACTCTAACAGTCCTGTGGTCA	0.473													8	385					0	0	1	0	0	C	100679149	T	C	100679149	2	2	163	1	0	0	0	0	0	0	0	1	10022	1664	58	3		3	MUC17	7	100679149	Silent	SNP	T	TCGA-E1-A7YD-01A-11D-A34A-08	18098874	100679149	58459514	33	23257											
CHPF2	54480	broad.mit.edu	37	7	150932146	150932146	+	Missense_Mutation	SNP	C	C	G			TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr7:150932146C>G	ENST00000035307.2	+	2	1789	c.276C>G	c.(274-276)atC>atG	p.I92M	CHPF2_ENST00000495645.1_Missense_Mutation_p.I84M	NM_019015.1	NP_061888.1	Q9P2E5	CHPF2_HUMAN	chondroitin polymerizing factor 2	92						Golgi cisterna membrane|integral to membrane	N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity			breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(4)|prostate(1)|skin(3)	17						CTCGGTACATCCAGACAGAGC	0.572													27	52					0	0	1	0	0	G	150932146	C	G	150932146	3	3	163	1	0	0	0	0	1	0	0	0	3391	845	30	5	282	5	CHPF2	7	150932146	Missense_Mutation	SNP	C	TCGA-E1-A7YD-01A-11D-A34A-08	50252997	150932146	8206517	34	23258											
CSPP1	79848	broad.mit.edu	37	8	68030998	68030998	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr8:68030998G>A	ENST00000262210.5	+	13	1655	c.1624G>A	c.(1624-1626)Gta>Ata	p.V542I	CSPP1_ENST00000412460.1_Missense_Mutation_p.V248I	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	centrosome and spindle pole associated protein 1	577						centrosome|microtubule|spindle				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)			AATGATGGGCGTACAGCCTGC	0.308													3	82					0	0	1	0	0	A	68030998	G	A	68030998	3	1	163	1	0	0	0	0	1	0	0	0	3987	1145	40	1	1787	1	CSPP1	8	68030998	Missense_Mutation	SNP	G	TCGA-E1-A7YD-01A-11D-A34A-08		68030998	78333024	35	23259											
CNGB3	54714	broad.mit.edu	37	8	87683308	87683308	+	Silent	SNP	A	A	G			TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr8:87683308A>G	ENST00000320005.5	-	4	404	c.357T>C	c.(355-357)ccT>ccC	p.P119P		NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	119					signal transduction|visual perception	integral to membrane	cGMP binding			NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						CAGGAGCTGCAGGCGGTTTGT	0.413													63	138					0	0	1	0	0	G	87683308	A	G	87683308	2	3	163	1	0	0	0	0	0	0	0	1	3624	175	7	3		3	CNGB3	8	87683308	Silent	SNP	A	TCGA-E1-A7YD-01A-11D-A34A-08	19652310	87683308	58680714	36	23260											
PSAT1	29968	broad.mit.edu	37	9	80923424	80923424	+	Missense_Mutation	SNP	G	G	A	rs114496656	by1000genomes	TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr9:80923424G>A	ENST00000376588.3	+	6	733	c.665G>A	c.(664-666)cGa>cAa	p.R222Q	PSAT1_ENST00000347159.2_Missense_Mutation_p.R222Q	NM_058179.2	NP_478059.1	Q9Y617	SERC_HUMAN	phosphoserine aminotransferase 1	222					L-serine biosynthetic process|pyridoxine biosynthetic process		O-phospho-L-serine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|urinary_tract(1)	20					L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)	TTTGCCCTCCGAGAGTGCCCC	0.537													23	31					0	0	1	0	0	A	80923424	G	A	80923424	3	1	163	1	0	0	0	0	1	0	0	0	12693	1058	37	1	687	1	PSAT1	9	80923424	Missense_Mutation	SNP	G	TCGA-E1-A7YD-01A-11D-A34A-08		80923424	60290007	37	23261											
OR1N2	138882	broad.mit.edu	37	9	125316117	125316117	+	Missense_Mutation	SNP	C	C	A			TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr9:125316117C>A	ENST00000373688.2	+	1	727	c.669C>A	c.(667-669)ttC>ttA	p.F223L		NM_001004457.1	NP_001004457.1	Q8NGR9	OR1N2_HUMAN	olfactory receptor, family 1, subfamily N, member 2	223					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3)	26						GCTTGCTGTTCCTCACTGTTC	0.502													32	55					2.85442e-18	3.16025e-18	1	1	0	A	125316117	C	A	125316117	3	1	163	1	0	0	0	0	1	0	0	0	11018	854	30	5	671	5	OR1N2	9	125316117	Missense_Mutation	SNP	C	TCGA-E1-A7YD-01A-11D-A34A-08	44392693	125316117	15897314	38	23262											
OLFML2A	169611	broad.mit.edu	37	9	127563860	127563860	+	Silent	SNP	C	C	T			TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr9:127563860C>T	ENST00000373580.3	+	5	837	c.837C>T	c.(835-837)cgC>cgT	p.R279R	OLFML2A_ENST00000288815.5_Silent_p.R65R	NM_182487.2	NP_872293.2	Q68BL7	OLM2A_HUMAN	olfactomedin-like 2A	279										endometrium(5)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	25						CCAAGCCCCGCGCCCTGGCCC	0.632													8	22					0	0	1	0	0	T	127563860	C	T	127563860	2	4	163	1	0	0	0	0	0	0	0	1	10905	755	27	1		1	OLFML2A	9	127563860	Silent	SNP	C	TCGA-E1-A7YD-01A-11D-A34A-08	2247743	127563860	13649571	39	23263											
ASS1	445	broad.mit.edu	37	9	133355812	133355812	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr9:133355812C>T	ENST00000372394.1	+	12	1295	c.814C>T	c.(814-816)Cgc>Tgc	p.R272C	ASS1_ENST00000493984.2_3'UTR|ASS1_ENST00000372393.3_Missense_Mutation_p.R272C|ASS1_ENST00000352480.5_Missense_Mutation_p.R272C			P00966	ASSY_HUMAN	argininosuccinate synthase 1	272			R -> C (in CTLN1).		arginine biosynthetic process|urea cycle	cytosol	argininosuccinate synthase activity|ATP binding|protein binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	17				OV - Ovarian serous cystadenocarcinoma(145;0.000514)	Adenosine triphosphate(DB00171)|L-Arginine(DB00125)|L-Aspartic Acid(DB00128)|L-Citrulline(DB00155)	CGTGGAGAACCGCTTCATTGG	0.607													14	22					0	0	1	0	0	T	133355812	C	T	133355812	3	4	163	1	0	0	0	0	1	0	0	0	1060	652	23	1	852	1	ASS1	9	133355812	Missense_Mutation	SNP	C	TCGA-E1-A7YD-01A-11D-A34A-08	5791952	133355812	7857619	40	23264											
HNRNPF	3185	broad.mit.edu	37	10	43882891	43882891	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr10:43882891C>T	ENST00000443950.2	-	3	928	c.442G>A	c.(442-444)Gaa>Aaa	p.E148K	HNRNPF_ENST00000357065.4_Missense_Mutation_p.E148K|HNRNPF_ENST00000544000.1_Missense_Mutation_p.E148K|HNRNPF_ENST00000337970.3_Missense_Mutation_p.E148K|HNRNPF_ENST00000356053.3_Missense_Mutation_p.E148K	NM_001098208.1	NP_001091678.1	P52597	HNRPF_HUMAN	heterogeneous nuclear ribonucleoprotein F	148	RRM 2.				regulation of RNA splicing	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|urinary_tract(1)	19						ATCTTGCCTTCGGGGTCCACA	0.507													17	49					0	0	1	0	0	T	43882891	C	T	43882891	3	4	163	1	0	0	0	0	1	0	0	0	7306	893	31	1	809	1	HNRNPF	10	43882891	Missense_Mutation	SNP	C	TCGA-E1-A7YD-01A-11D-A34A-08		43882891	91651856	41	23265											
KCNK18	338567	broad.mit.edu	37	10	118969303	118969303	+	Silent	SNP	A	A	C			TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr10:118969303A>C	ENST00000334549.1	+	3	648	c.648A>C	c.(646-648)acA>acC	p.T216T		NM_181840.1	NP_862823.1	Q7Z418	KCNKI_HUMAN	potassium channel, subfamily K, member 18	216						integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	41		Colorectal(252;0.19)		all cancers(201;0.0211)		AACTTGGCACATGTCCTTCAC	0.527													32	14					0	0	1	0	0	C	118969303	A	C	118969303	2	2	163	1	0	0	0	0	0	0	0	1	8109	204	8	4		4	KCNK18	10	118969303	Silent	SNP	A	TCGA-E1-A7YD-01A-11D-A34A-08	75086412	118969303	16565444	42	23266											
MRGPRX1	259249	broad.mit.edu	37	11	18955787	18955787	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr11:18955787G>A	ENST00000302797.3	-	1	769	c.545C>T	c.(544-546)gCg>gTg	p.A182V	MRGPRX1_ENST00000526914.1_5'UTR	NM_147199.3	NP_671732.3	Q96LB2	MRGX1_HUMAN	MAS-related GPR, member X1	182					acute-phase response	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						AATCAGCCACGCGACTGTGAT	0.522													47	23					0	0	1	0	0	A	18955787	G	A	18955787	3	1	163	1	0	0	0	0	1	0	0	0	9815	1087	38	1	427	1	MRGPRX1	11	18955787	Missense_Mutation	SNP	G	TCGA-E1-A7YD-01A-11D-A34A-08		18955787	116050729	43	23267											
GLYATL1	92292	broad.mit.edu	37	11	58711063	58711063	+	Silent	SNP	A	A	T			TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr11:58711063A>T	ENST00000300079.5	+	2	122	c.72A>T	c.(70-72)ggA>ggT	p.G24G	GLYATL1_ENST00000317391.4_5'UTR|RP11-142C4.6_ENST00000533954.1_RNA	NM_001220496.1|NM_080661.3	NP_001207425.1|NP_542392.2	Q969I3	GLYL1_HUMAN	glycine-N-acyltransferase-like 1	0						mitochondrion	glycine N-acyltransferase activity			NS(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|skin(4)|urinary_tract(1)	34					Glycine(DB00145)	tatccccaggagcgcgaagtg	0.438													11	39					0	0	1	0	0	T	58711063	A	T	58711063	2	4	163	1	0	0	0	0	0	0	0	1	6522	291	11	5		5	GLYATL1	11	58711063	Silent	SNP	A	TCGA-E1-A7YD-01A-11D-A34A-08	39755276	58711063	76295453	44	23268											
CDC42BPG	55561	broad.mit.edu	37	11	64603246	64603246	+	Silent	SNP	C	C	T			TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr11:64603246C>T	ENST00000342711.5	-	14	1745	c.1746G>A	c.(1744-1746)tcG>tcA	p.S582S		NM_017525.2	NP_059995.2	Q6DT37	MRCKG_HUMAN	CDC42 binding protein kinase gamma (DMPK-like)	582					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						TGGCCTGGGACGACTCCTCAA	0.667													4	18					0	0	1	0	0	T	64603246	C	T	64603246	2	4	163	1	0	0	0	0	0	0	0	1	3096	523	19	1		1	CDC42BPG	11	64603246	Silent	SNP	C	TCGA-E1-A7YD-01A-11D-A34A-08	5892183	64603246	70403270	45	23269											
MMP1	4312	broad.mit.edu	37	11	102666018	102666018	+	Silent	SNP	A	A	T			TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr11:102666018A>T	ENST00000315274.6	-	6	853	c.786T>A	c.(784-786)cgT>cgA	p.R262R	WTAPP1_ENST00000525739.2_RNA	NM_001145938.1|NM_002421.3	NP_001139410.1|NP_002412.1	P03956	MMP1_HUMAN	matrix metallopeptidase 1 (interstitial collagenase)	262	Metalloprotease.		R -> S (in dbSNP:rs12282811).		blood coagulation|collagen catabolic process|interspecies interaction between organisms|leukocyte migration|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(1)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	30	all_epithelial(12;0.0127)	all_neural(303;0.000318)|all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.072)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.233)	OV - Ovarian serous cystadenocarcinoma(223;1.82e-07)|Epithelial(105;1.51e-06)|BRCA - Breast invasive adenocarcinoma(274;0.014)		GATTTTGGGAACGTCCTAAGG	0.418													33	22					0	0	1	0	0	T	102666018	A	T	102666018	2	4	163	1	0	0	0	0	0	0	0	1	9696	30	2	5		5	MMP1	11	102666018	Silent	SNP	A	TCGA-E1-A7YD-01A-11D-A34A-08	38062772	102666018	32340498	46	23270											
MUCL1	118430	broad.mit.edu	37	12	55248906	55248906	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr12:55248906C>T	ENST00000308796.6	+	2	111	c.65C>T	c.(64-66)cCg>cTg	p.P22L	MUCL1_ENST00000546809.1_Missense_Mutation_p.P17L|MUCL1_ENST00000547990.1_3'UTR	NM_058173.2	NP_477521.1	Q96DR8	MUCL1_HUMAN	mucin-like 1	22						extracellular region|membrane				breast(1)|kidney(1)|lung(1)	3						TCAGAGAATCCGACAACAGCT	0.418													16	26					0	0	1	0	0	T	55248906	C	T	55248906	3	4	163	1	0	0	0	0	1	0	0	0	10030	652	23	1	71	1	MUCL1	12	55248906	Missense_Mutation	SNP	C	TCGA-E1-A7YD-01A-11D-A34A-08		55248906	78602989	47	23271											
TMTC2	160335	broad.mit.edu	37	12	83526152	83526152	+	Missense_Mutation	SNP	A	A	G			TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr12:83526152A>G	ENST00000549919.1	+	13	4282	c.2477A>G	c.(2476-2478)aAg>aGg	p.K826R	TMTC2_ENST00000321196.3_Missense_Mutation_p.K832R			Q8N394	TMTC2_HUMAN	transmembrane and tetratricopeptide repeat containing 2	832						endoplasmic reticulum|integral to membrane	binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1)	39						CAAGGCTTAAAGACTTCTAAG	0.502													6	32					0	0	1	0	0	G	83526152	A	G	83526152	3	3	163	1	0	0	0	0	1	0	0	0	16321	72	3	3	2541	3	TMTC2	12	83526152	Missense_Mutation	SNP	A	TCGA-E1-A7YD-01A-11D-A34A-08	28277246	83526152	50325743	48	23272											
NOS1	4842	broad.mit.edu	37	12	117691474	117691474	+	Missense_Mutation	SNP	A	A	G			TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr12:117691474A>G	ENST00000317775.6	-	17	3302	c.2617T>C	c.(2617-2619)Ttt>Ctt	p.F873L	NOS1_ENST00000338101.4_Missense_Mutation_p.F907L|NOS1_ENST00000344089.3_3'UTR	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN	nitric oxide synthase 1 (neuronal)	873	Flavodoxin-like.				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	GCACTCTCAAAGTTGTCTCTG	0.557													41	25					0	0	1	0	0	G	117691474	A	G	117691474	3	3	163	1	0	0	0	0	1	0	0	0	10588	72	3	3	1739	3	NOS1	12	117691474	Missense_Mutation	SNP	A	TCGA-E1-A7YD-01A-11D-A34A-08	34165322	117691474	16160421	49	23273											
PSME1	5720	broad.mit.edu	37	14	24606640	24606640	+	Splice_Site	SNP	G	G	A			TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr14:24606640G>A	ENST00000382708.3	+	4	309	c.246G>A	c.(244-246)gaG>gaA	p.E82E	PSME1_ENST00000470718.1_3'UTR|PSME1_ENST00000559123.1_5'UTR|PSME1_ENST00000561435.1_Splice_Site_p.E82E|PSME1_ENST00000206451.6_Splice_Site_p.E82E	NM_176783.1	NP_788955.1	Q06323	PSME1_HUMAN	proteasome (prosome, macropain) activator subunit 1 (PA28 alpha)	82					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|proteasome activator complex				endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11				GBM - Glioblastoma multiforme(265;0.00831)		AACAGCAGGAGGCAAGCTGGG	0.507													30	8					0	0	1	0	0	A	24606640	G	A	24606640	5	1	163	1	0	0	0	0	0	0	1	0	12755	1014	35	2	260	2	PSME1	14	24606640	Splice_Site	SNP	G	TCGA-E1-A7YD-01A-11D-A34A-08		24606640	82742900	50	23274											
TRIM69	140691	broad.mit.edu	37	15	45050943	45050943	+	Missense_Mutation	SNP	A	A	G			TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr15:45050943A>G	ENST00000558173.1	+	2	4837	c.92A>G	c.(91-93)gAg>gGg	p.E31G	TRIM69_ENST00000559390.1_Missense_Mutation_p.E235G|TRIM69_ENST00000560442.1_Missense_Mutation_p.E31G|TRIM69_ENST00000558329.1_Missense_Mutation_p.E31G|TRIM69_ENST00000561043.1_Intron|TRIM69_ENST00000338264.4_Missense_Mutation_p.E76G|TRIM69_ENST00000329464.4_Missense_Mutation_p.E235G			Q86WT6	TRI69_HUMAN	tripartite motif containing 69	235	Necessary for nuclear localization (By similarity).		V -> A (in dbSNP:rs3759880).		apoptosis	nuclear speck	zinc ion binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(9)|skin(1)	20		all_cancers(109;2.47e-13)|all_epithelial(112;2.84e-11)|Lung NSC(122;2.23e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)		all cancers(107;5.5e-19)|GBM - Glioblastoma multiforme(94;1.07e-06)|Colorectal(105;0.138)|COAD - Colon adenocarcinoma(120;0.141)		TTGAATGAGGAGATGGAGTTG	0.473													3	28					0	0	1	0	0	G	45050943	A	G	45050943	3	3	163	1	0	0	0	0	1	0	0	0	16603	304	11	3	718	3	TRIM69	15	45050943	Missense_Mutation	SNP	A	TCGA-E1-A7YD-01A-11D-A34A-08		45050943	57480449	51	23275											
ITGAX	3687	broad.mit.edu	37	16	31391335	31391335	+	Silent	SNP	C	C	T			TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr16:31391335C>T	ENST00000268296.4	+	26	3130	c.3009C>T	c.(3007-3009)atC>atT	p.I1003I	ITGAX_ENST00000562522.1_Silent_p.I1003I	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	1003					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						CAGAGAAAATCGCACCCCCAG	0.577													30	30					0	0	1	0	0	T	31391335	C	T	31391335	2	4	163	1	0	0	0	0	0	0	0	1	7933	874	31	1		1	ITGAX	16	31391335	Silent	SNP	C	TCGA-E1-A7YD-01A-11D-A34A-08		31391335	58963418	52	23276											
TUBB3	10381	broad.mit.edu	37	16	90001621	90001621	+	Silent	SNP	C	C	T			TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr16:90001621C>T	ENST00000304984.5	+	3	2841	c.546C>T	c.(544-546)gcC>gcT	p.A182A	TUBB3_ENST00000554444.1_Silent_p.A182A|TUBB3_ENST00000315491.7_Silent_p.A254A|TUBB3_ENST00000555576.1_Intron|TUBB3_ENST00000556922.1_Silent_p.A601A			Q13509	TBB3_HUMAN	tubulin, beta 3 class III	254					'de novo' posttranslational protein folding|axon guidance|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17		all_cancers(9;1.69e-11)|Lung NSC(15;8.94e-06)|all_lung(18;1.39e-05)|all_neural(9;0.00581)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0273)		GCAAGCTGGCCGTCAACATGG	0.687													32	41					0	0	1	0	0	T	90001621	C	T	90001621	2	4	163	1	0	0	0	0	0	0	0	1	16819	639	23	1		1	TUBB3	16	90001621	Silent	SNP	C	TCGA-E1-A7YD-01A-11D-A34A-08	58610286	90001621	353132	53	23277											
TP53	7157	broad.mit.edu	37	17	7578524	7578524	+	Nonsense_Mutation	SNP	G	G	A			TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr17:7578524G>A	ENST00000420246.2	-	5	538	c.406C>T	c.(406-408)Caa>Taa	p.Q136*	TP53_ENST00000269305.4_Nonsense_Mutation_p.Q136*|TP53_ENST00000445888.2_Nonsense_Mutation_p.Q136*|TP53_ENST00000359597.4_Nonsense_Mutation_p.Q136*|TP53_ENST00000413465.2_Nonsense_Mutation_p.Q136*|TP53_ENST00000455263.2_Nonsense_Mutation_p.Q136*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	136	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q -> E (in sporadic cancers; somatic mutation).|Q -> H (in sporadic cancers; somatic mutation).|Q -> K (in a sporadic cancer; somatic mutation).|Q -> P (in sporadic cancers; somatic mutation).|Q -> R (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.Q136*(34)|p.0?(8)|p.C135fs*9(3)|p.Q136E(3)|p.N131fs*27(2)|p.F134_T140>S(1)|p.K132_A138delKMFCQLA(1)|p.Q136K(1)|p.S127_Q136del10(1)|p.V73fs*9(1)|p.Q43*(1)|p.Y126fs*11(1)|p.Q4*(1)|p.C3fs*9(1)|p.C42fs*9(1)|p.C135_A138delCQLA(1)|p.Q136_K139delQLAK(1)|p.Q136fs*34(1)|p.C135_T140delCQLAKT(1)|p.Q136fs*13(1)|p.C135_Q136insXXXXXX(1)|p.C135_Q136insX(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)		TTGGCCAGTTGGCAAAACATC	0.562		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)			47	7					0	0	1	0	0	A	7578524	G	A	7578524	4	1	163	1	0	0	0	0	0	1	0	0	16442	1357	47	2	892	2	TP53	17	7578524	Nonsense_Mutation	SNP	G	TCGA-E1-A7YD-01A-11D-A34A-08		7578524	73616686	54	23278											
COX10	1352	broad.mit.edu	37	17	13977745	13977745	+	Missense_Mutation	SNP	T	T	G			TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr17:13977745T>G	ENST00000261643.3	+	2	226	c.149T>G	c.(148-150)tTt>tGt	p.F50C	COX10_ENST00000536205.1_5'UTR|COX10_ENST00000429152.2_Missense_Mutation_p.F50C|COX10_ENST00000537334.1_5'UTR	NM_001303.3	NP_001294.2	Q12887	COX10_HUMAN	cytochrome c oxidase assembly homolog 10 (yeast)	50					heme a biosynthetic process|heme O biosynthetic process|respiratory chain complex IV assembly	integral to membrane|mitochondrial membrane	protoheme IX farnesyltransferase activity			cervix(1)|endometrium(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14		all_lung(20;0.06)|Lung SC(565;0.168)		UCEC - Uterine corpus endometrioid carcinoma (92;0.106)		TGGATTACATTTCAGCACTTT	0.398													68	96					0	0	1	0	0	G	13977745	T	G	13977745	3	3	163	1	0	0	0	0	1	0	0	0	3785	1841	64	5	155	5	COX10	17	13977745	Missense_Mutation	SNP	T	TCGA-E1-A7YD-01A-11D-A34A-08	6399221	13977745	67217465	55	23279											
CCL1	6346	broad.mit.edu	37	17	32687613	32687613	+	Missense_Mutation	SNP	T	T	C			TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr17:32687613T>C	ENST00000225842.3	-	3	325	c.256A>G	c.(256-258)Aaa>Gaa	p.K86E		NM_002981.1	NP_002972.1	P22362	CCL1_HUMAN	chemokine (C-C motif) ligand 1	86					cellular calcium ion homeostasis|chemotaxis|immune response|signal transduction|viral reproduction	extracellular space	chemokine activity						Ovarian(249;0.0443)|Breast(31;0.133)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)|BRCA - Breast invasive adenocarcinoma(366;0.155)		CTCAGCATTTTTCTGTGCCTC	0.502													4	153					0	0	1	0	0	C	32687613	T	C	32687613	3	2	163	1	0	0	0	0	1	0	0	0	2902	1850	64	3	38	3	CCL1	17	32687613	Missense_Mutation	SNP	T	TCGA-E1-A7YD-01A-11D-A34A-08	18709868	32687613	48507597	56	23280											
ABCA5	23461	broad.mit.edu	37	17	67280148	67280148	+	Missense_Mutation	SNP	T	T	A			TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr17:67280148T>A	ENST00000392676.3	-	18	2402	c.2338A>T	c.(2338-2340)Act>Tct	p.T780S	ABCA5_ENST00000588877.1_Missense_Mutation_p.T780S|ABCA5_ENST00000392677.2_Missense_Mutation_p.T780S			Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 5	780					cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)					TCTTCCAAAGTCGTCATGGAA	0.328													19	34					0	0	1	0	0	A	67280148	T	A	67280148	3	1	163	1	0	0	0	0	1	0	0	0	35	1667	58	5	2678	5	ABCA5	17	67280148	Missense_Mutation	SNP	T	TCGA-E1-A7YD-01A-11D-A34A-08	34592535	67280148	13915062	57	23281											
QRICH2	84074	broad.mit.edu	37	17	74287133	74287133	+	Silent	SNP	G	G	A			TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr17:74287133G>A	ENST00000262765.5	-	4	3356	c.3177C>T	c.(3175-3177)acC>acT	p.T1059T		NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN	glutamine rich 2	1059							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						TCTCCAAGTCGGTTTGGCCGG	0.522													49	52					0	0	1	0	0	A	74287133	G	A	74287133	2	1	163	1	0	0	0	0	0	0	0	1	12932	1103	39	1		1	QRICH2	17	74287133	Silent	SNP	G	TCGA-E1-A7YD-01A-11D-A34A-08	7006985	74287133	6908077	58	23282											
TUBB6	84617	broad.mit.edu	37	18	12311033	12311033	+	Silent	SNP	G	G	T			TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr18:12311033G>T	ENST00000317702.5	+	3	492	c.258G>T	c.(256-258)cgG>cgT	p.R86R	TUBB6_ENST00000586653.1_Silent_p.R86R|TUBB6_ENST00000591208.1_Silent_p.R86R|TUBB6_ENST00000590967.1_Silent_p.R86R|TUBB6_ENST00000592683.1_Silent_p.R86R|TUBB6_ENST00000591909.1_Silent_p.R86R			Q9BUF5	TBB6_HUMAN	tubulin, beta 6 class V	86					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)	14				READ - Rectum adenocarcinoma(1;0.0649)		AGCTTTTCCGGCCTGACAACT	0.458													6	25					0.000157383	0.000162629	1	1	0	T	12311033	G	T	12311033	2	4	163	1	0	0	0	0	0	0	0	1	16822	1190	42	5		5	TUBB6	18	12311033	Silent	SNP	G	TCGA-E1-A7YD-01A-11D-A34A-08		12311033	65766215	59	23283											
FGF22	27006	broad.mit.edu	37	19	643472	643472	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr19:643472C>T	ENST00000586042.2	+	3	389	c.358C>T	c.(358-360)Cgc>Tgc	p.R120C	FGF22_ENST00000166133.3_Silent_p.Y86Y|FGF22_ENST00000215530.5_Silent_p.Y127Y			Q9HCT0	FGF22_HUMAN	fibroblast growth factor 22	0					cell differentiation|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway	extracellular space	growth factor activity			endometrium(1)|lung(1)|prostate(1)	3		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)		ACAACACCTACGCCTCACAGC	0.741													15	11					0	0	1	0	0	T	643472	C	T	643472	3	4	163	1	0	0	0	0	1	0	0	0	5884	547	19	1	391	1	FGF22	19	643472	Missense_Mutation	SNP	C	TCGA-E1-A7YD-01A-11D-A34A-08		643472	58485511	60	23284											
SAFB2	9667	broad.mit.edu	37	19	5594175	5594175	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr19:5594175C>T	ENST00000252542.4	-	15	2198	c.1934G>A	c.(1933-1935)cGg>cAg	p.R645Q		NM_014649.2	NP_055464.1	Q14151	SAFB2_HUMAN	scaffold attachment factor B2	645	Arg-rich.|Glu-rich.|Interacts with SAFB1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|nucleotide binding|protein binding|RNA binding			endometrium(3)|kidney(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				UCEC - Uterine corpus endometrioid carcinoma (162;0.000228)		CTCCCGCTCCCGCTGCTCGCG	0.672													7	20					0	0	1	0	0	T	5594175	C	T	5594175	3	4	163	1	0	0	0	0	1	0	0	0	13859	652	23	1	955	1	SAFB2	19	5594175	Missense_Mutation	SNP	C	TCGA-E1-A7YD-01A-11D-A34A-08	4950703	5594175	53534808	61	23285											
KLK3	354	broad.mit.edu	37	19	51361822	51361822	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr19:51361822C>T	ENST00000360617.3	+	4	601	c.601C>T	c.(601-603)Cgc>Tgc	p.R201C	KLK3_ENST00000593997.1_Missense_Mutation_p.R201C|KLK3_ENST00000597483.1_Missense_Mutation_p.R158C|KLK3_ENST00000595952.1_Missense_Mutation_p.R158C|KLK3_ENST00000326003.2_Missense_Mutation_p.R201C			P07288	KLK3_HUMAN	kallikrein-related peptidase 3	201	Peptidase S1.				negative regulation of angiogenesis|proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|cervix(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00763)|GBM - Glioblastoma multiforme(134;0.0144)		GTGTGCTGGACGCTGGACAGG	0.532													21	70					0	0	1	0	0	T	51361822	C	T	51361822	3	4	163	1	0	0	0	0	1	0	0	0	8448	536	19	1	619	1	KLK3	19	51361822	Missense_Mutation	SNP	C	TCGA-E1-A7YD-01A-11D-A34A-08	45767647	51361822	7767161	62	23286											
ZNF416	55659	broad.mit.edu	37	19	58084238	58084239	+	Frame_Shift_Ins	INS	-	-	A			TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr19:58084238_58084239insA	ENST00000196489.3	-	4	1255_1256	c.1033_1034insT	c.(1033-1035)tgcfs	p.C345fs		NM_017879.1	NP_060349.1	Q9BWM5	ZN416_HUMAN	zinc finger protein 416	345					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(5)|lung(12)|prostate(1)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259)		GTGAATTCTGCAATGTTCAATA	0.441													29	78	---	---	---	---						A	58084239	-	A	58084238	7	5	163	1	0	1	1	0	0	0	0	0	17950	710	25	0	754	0	ZNF416	19	58084238	Frame_Shift_Ins	INS	-	TCGA-E1-A7YD-01A-11D-A34A-08	6722416	58084238	1044745	63	23287											
CST4	1472	broad.mit.edu	37	20	23669471	23669471	+	Missense_Mutation	SNP	G	G	A	rs138934020		TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr20:23669471G>A	ENST00000217423.3	-	1	206	c.136C>T	c.(136-138)Cgt>Tgt	p.R46C		NM_001899.2	NP_001890.1	P01036	CYTS_HUMAN	cystatin S	46						extracellular region	cysteine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|large_intestine(2)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	16	Lung NSC(19;0.0789)|Colorectal(13;0.0993)|all_lung(19;0.169)					TGAAGGGCACGCTGTACCCAC	0.592													58	34					0	0	1	0	0	A	23669471	G	A	23669471	3	1	163	1	0	0	0	0	1	0	0	0	3999	1087	38	1	301	1	CST4	20	23669471	Missense_Mutation	SNP	G	TCGA-E1-A7YD-01A-11D-A34A-08		23669471	39356049	64	23288											
VSTM2L	128434	broad.mit.edu	37	20	36560079	36560079	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr20:36560079G>A	ENST00000373461.4	+	2	411	c.164G>A	c.(163-165)gGc>gAc	p.G55D	VSTM2L_ENST00000373459.4_Intron|VSTM2L_ENST00000373458.3_Missense_Mutation_p.G55D	NM_080607.2	NP_542174.1	Q96N03	VTM2L_HUMAN	V-set and transmembrane domain containing 2 like	55	Ig-like.									central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(4)|ovary(1)|skin(1)	8		Myeloproliferative disorder(115;0.00878)				GCACGGACGGGCGAGGACGTG	0.637													81	75					0	0	1	0	0	A	36560079	G	A	36560079	3	1	163	1	0	0	0	0	1	0	0	0	17290	1203	42	2	170	2	VSTM2L	20	36560079	Missense_Mutation	SNP	G	TCGA-E1-A7YD-01A-11D-A34A-08	12890608	36560079	26465441	65	23289											
SEMG1	6406	broad.mit.edu	37	20	43836216	43836216	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr20:43836216C>T	ENST00000372781.3	+	2	335	c.278C>T	c.(277-279)aCg>aTg	p.T93M	SEMG1_ENST00000244069.6_Missense_Mutation_p.T93M	NM_003007.3	NP_002998.1			semenogelin I											cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	32		Myeloproliferative disorder(115;0.0122)				CTACATAAGACGACAAAATCA	0.378													64	49					0	0	1	0	0	T	43836216	C	T	43836216	3	4	163	1	0	0	0	0	1	0	0	0	14098	536	19	1	284	1	SEMG1	20	43836216	Missense_Mutation	SNP	C	TCGA-E1-A7YD-01A-11D-A34A-08	7276137	43836216	19189304	66	23290											
CHRNA4	1137	broad.mit.edu	37	20	61981166	61981166	+	Missense_Mutation	SNP	A	A	G			TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr20:61981166A>G	ENST00000370263.4	-	5	1818	c.1597T>C	c.(1597-1599)Tgc>Cgc	p.C533R	CHRNA4_ENST00000463705.1_5'UTR	NM_000744.6|NM_001256573.1	NP_000735.1|NP_001243502.1	P43681	ACHA4_HUMAN	cholinergic receptor, nicotinic, alpha 4 (neuronal)	533					B cell activation|behavioral response to nicotine|calcium ion transport|cognition|DNA repair|membrane depolarization|regulation of action potential|regulation of dopamine secretion|regulation of inhibitory postsynaptic membrane potential|response to hypoxia|response to oxidative stress|sensory perception of pain|synaptic transmission, cholinergic	cell junction|dendrite|external side of plasma membrane|membrane fraction|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(19)|prostate(3)|skin(3)|soft_tissue(1)	33	all_cancers(38;1.71e-10)				Nicotine(DB00184)|Varenicline(DB01273)	TCCTTCTTGCATGTGCATTTG	0.711													5	29					0	0	1	0	0	G	61981166	A	G	61981166	3	3	163	1	0	0	0	0	1	0	0	0	3407	217	8	3	294	3	CHRNA4	20	61981166	Missense_Mutation	SNP	A	TCGA-E1-A7YD-01A-11D-A34A-08	18144950	61981166	1044354	67	23291											
JAM2	58494	broad.mit.edu	37	21	27012164	27012166	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr21:27012164_27012166delCTG	ENST00000480456.1	+	1	581_583	c.31_33delCTG	c.(31-33)ctgdel	p.L14del	JAM2_ENST00000400532.1_In_Frame_Del_p.L14del|JAM2_ENST00000312957.5_In_Frame_Del_p.L14del|JAM2_ENST00000425221.2_In_Frame_Del_p.L14del	NM_001270407.1|NM_021219.3	NP_001257336.1|NP_067042.1	P57087	JAM2_HUMAN	junctional adhesion molecule 2	14					blood coagulation|cell-cell adhesion|leukocyte migration	integral to plasma membrane|tight junction				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|stomach(1)|urinary_tract(1)	19						CCGCCTCCTCCTGCTGCTGCTGC	0.724													2	4	---	---	---	---						-	27012166	CTG	-	27012164	7	5	163	1	0	1	0	1	0	0	0	0	7987	680	24	0	33	0	JAM2	21	27012164	In_Frame_Del	DEL	CTG	TCGA-E1-A7YD-01A-11D-A34A-08		27012164	21117731	68	23292											
ITGB2	3689	broad.mit.edu	37	21	46321434	46321434	+	Silent	SNP	G	G	A			TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr21:46321434G>A	ENST00000397850.2	-	7	1166	c.714C>T	c.(712-714)gaC>gaT	p.D238D	ITGB2_ENST00000302347.5_Silent_p.D238D|ITGB2_ENST00000397852.1_Silent_p.D238D|ITGB2_ENST00000397854.3_Silent_p.D181D|ITGB2_ENST00000355153.4_Silent_p.D238D|ITGB2_ENST00000397857.1_Silent_p.D238D			P05107	ITB2_HUMAN	integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)	238	VWFA.				apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation	integrin complex	glycoprotein binding|protein kinase binding|receptor activity			breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3)	35				Colorectal(79;0.0669)	Simvastatin(DB00641)	GCATCATGGCGTCCAGCCCAC	0.662													15	36					0	0	1	0	0	A	46321434	G	A	46321434	2	1	163	1	0	0	0	0	0	0	0	1	7938	1136	40	1		1	ITGB2	21	46321434	Silent	SNP	G	TCGA-E1-A7YD-01A-11D-A34A-08	19309270	46321434	1808461	69	23293											
CSF2RA	1438	broad.mit.edu	37	X	1422832	1422832	+	Missense_Mutation	SNP	C	C	A			TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chrX:1422832C>A	ENST00000381524.3	+	11	1149	c.963C>A	c.(961-963)aaC>aaA	p.N321K	CSF2RA_ENST00000494969.2_Intron|CSF2RA_ENST00000355805.2_Intron|CSF2RA_ENST00000381500.1_Intron|CSF2RA_ENST00000355432.3_Intron|CSF2RA_ENST00000498153.1_3'UTR|CSF2RA_ENST00000501036.2_Missense_Mutation_p.N188K|CSF2RA_ENST00000417535.2_Missense_Mutation_p.N355K|CSF2RA_ENST00000361536.3_Intron|CSF2RA_ENST00000381529.3_Missense_Mutation_p.N321K|CSF2RA_ENST00000381509.3_Missense_Mutation_p.N321K|CSF2RA_ENST00000432318.2_Missense_Mutation_p.N321K			P15509	CSF2R_HUMAN	colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)	321						extracellular region|integral to plasma membrane	cytokine receptor activity			central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	ACGACGGGAACCTCGGCTCTG	0.498													7	287					0.00307968	0.00311315	1	1	0	A	1422832	C	A	1422832	3	1	163	1	0	0	0	0	1	0	0	0	3959	506	18	5	1103	5	CSF2RA	23	1422832	Missense_Mutation	SNP	C	TCGA-E1-A7YD-01A-11D-A34A-08		1422832	153847728	70	23294											
SHROOM2	357	broad.mit.edu	37	X	9863548	9863548	+	Frame_Shift_Del	DEL	C	C	-			TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chrX:9863548delC	ENST00000380913.3	+	4	1690	c.1600delC	c.(1600-1602)cggfs	p.R534fs		NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN	shroom family member 2	534					apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization	apical plasma membrane|cell-cell adherens junction|microtubule|tight junction	actin filament binding|beta-catenin binding|ligand-gated sodium channel activity			breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57		Hepatocellular(5;0.000888)				CGAGACAGGACGGTGTTACCC	0.692													2	4	---	---	---	---						-	9863548	C	-	9863548	7	5	163	1	0	1	0	1	0	0	0	0	14349	527	19	0	1614	0	SHROOM2	23	9863548	Frame_Shift_Del	DEL	C	TCGA-E1-A7YD-01A-11D-A34A-08	8440716	9863548	145407012	71	23295											
CYLC1	1538	broad.mit.edu	37	X	83129602	83129602	+	Missense_Mutation	SNP	T	T	C			TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chrX:83129602T>C	ENST00000329312.4	+	4	1923	c.1886T>C	c.(1885-1887)aTg>aCg	p.M629T		NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head cytoskeleton 1	629	Pro-rich.				cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						TGGTGCAAGATGCCTCCTCCA	0.408													25	5					0	0	1	0	0	C	83129602	T	C	83129602	3	2	163	1	0	0	0	0	1	0	0	0	4164	1464	51	3	1900	3	CYLC1	23	83129602	Missense_Mutation	SNP	T	TCGA-E1-A7YD-01A-11D-A34A-08	73266054	83129602	72140958	72	23296											
LRRC7	57554	broad.mit.edu	37	1	70509663	70509663	+	Silent	SNP	T	T	G			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr1:70509663T>G	ENST00000035383.5	+	20	3912	c.3882T>G	c.(3880-3882)gtT>gtG	p.V1294V	LRRC7_ENST00000415775.2_Silent_p.V578V|LRRC7_ENST00000310961.5_Intron	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	1294						centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						ACAATACAGTTAACCTTGGCA	0.388													30	43					0	0	1	0	0	G	70509663	T	G	70509663	2	3	164	1	0	0	0	0	0	0	0	1	9065	1741	61	5		5	LRRC7	1	70509663	Silent	SNP	T	TCGA-E1-A7YE-01A-11D-A34A-08		70509663	178740958	1	23297											
FLG	2312	broad.mit.edu	37	1	152285924	152285924	+	Missense_Mutation	SNP	A	A	G			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr1:152285924A>G	ENST00000368799.1	-	3	1473	c.1438T>C	c.(1438-1440)Tct>Cct	p.S480P	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	480	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCATGGGCAGAGTCAGGCTGT	0.612									Ichthyosis				84	153					0	0	1	0	0	G	152285924	A	G	152285924	3	3	164	1	0	0	0	0	1	0	0	0	5955	304	11	3	10751	3	FLG	1	152285924	Missense_Mutation	SNP	A	TCGA-E1-A7YE-01A-11D-A34A-08	81776261	152285924	96964697	2	23298											
FCRL1	115350	broad.mit.edu	37	1	157768008	157768008	+	Missense_Mutation	SNP	C	C	G			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr1:157768008C>G	ENST00000358292.3	-	7	991	c.940G>C	c.(940-942)Gag>Cag	p.E314Q	FCRL1_ENST00000368176.3_Missense_Mutation_p.E353Q|FCRL1_ENST00000491942.1_Missense_Mutation_p.E353Q|FCRL1_ENST00000489998.1_5'UTR	NM_001159397.1	NP_001152869.1	Q96LA6	FCRL1_HUMAN	Fc receptor-like 1	353						integral to membrane|plasma membrane	receptor activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6)	42	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			TAGGTGAACTCTTGGGGTAGA	0.493													8	29					0	0	1	0	0	G	157768008	C	G	157768008	3	3	164	1	0	0	0	0	1	0	0	0	5827	922	32	4	314	4	FCRL1	1	157768008	Missense_Mutation	SNP	C	TCGA-E1-A7YE-01A-11D-A34A-08	5482084	157768008	91482613	3	23299											
DSTYK	25778	broad.mit.edu	37	1	205126503	205126503	+	Silent	SNP	G	G	A			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr1:205126503G>A	ENST00000367162.3	-	10	2280	c.2250C>T	c.(2248-2250)acC>acT	p.T750T	DSTYK_ENST00000367161.3_Silent_p.T750T|DSTYK_ENST00000367160.4_Intron	NM_015375.2	NP_056190.1	Q6XUX3	DUSTY_HUMAN	dual serine/threonine and tyrosine protein kinase	750	Protein kinase.					cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(2)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)	14						GTGTCTCCAGGGTCAGCCCAG	0.483													7	53					0	0	1	0	0	A	205126503	G	A	205126503	2	1	164	1	0	0	0	0	0	0	0	1	4811	1219	43	2		2	DSTYK	1	205126503	Silent	SNP	G	TCGA-E1-A7YE-01A-11D-A34A-08	47358495	205126503	44124118	4	23300											
OR2T10	127069	broad.mit.edu	37	1	248757066	248757066	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr1:248757066G>A	ENST00000330500.2	-	1	34	c.4C>T	c.(4-6)Cgg>Tgg	p.R2W		NM_001004693.1	NP_001004693.1	Q8NGZ9	O2T10_HUMAN	olfactory receptor, family 2, subfamily T, member 10	2					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(17)|skin(3)|upper_aerodigestive_tract(1)	26	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TTGGCCAGCCGCATGCTGTAT	0.453													8	71					0	0	1	0	0	A	248757066	G	A	248757066	3	1	164	1	0	0	0	0	1	0	0	0	11065	1086	38	1	937	1	OR2T10	1	248757066	Missense_Mutation	SNP	G	TCGA-E1-A7YE-01A-11D-A34A-08	43630563	248757066	493555	5	23301											
SCN3A	6328	broad.mit.edu	37	2	165970412	165970412	+	Missense_Mutation	SNP	G	G	C			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr2:165970412G>C	ENST00000360093.3	-	20	4074	c.3583C>G	c.(3583-3585)Ctt>Gtt	p.L1195V	SCN3A_ENST00000409101.3_Missense_Mutation_p.L1146V|SCN3A_ENST00000283254.7_Missense_Mutation_p.L1195V	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	1195						voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.L1195I(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	GTTTTTCGAAGATTCCACCAG	0.343													66	81					0	0	1	0	0	C	165970412	G	C	165970412	3	2	164	1	0	0	0	0	1	0	0	0	13972	942	33	4	2455	4	SCN3A	2	165970412	Missense_Mutation	SNP	G	TCGA-E1-A7YE-01A-11D-A34A-08		165970412	77228961	6	23302											
NFE2L2	4780	broad.mit.edu	37	2	178097223	178097223	+	Nonsense_Mutation	SNP	G	G	C			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr2:178097223G>C	ENST00000397062.3	-	4	1045	c.491C>G	c.(490-492)tCa>tGa	p.S164*	NFE2L2_ENST00000423513.1_3'UTR|NFE2L2_ENST00000464747.1_Nonsense_Mutation_p.S148*|NFE2L2_ENST00000397063.4_Nonsense_Mutation_p.S148*|NFE2L2_ENST00000446151.2_Nonsense_Mutation_p.S141*	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	164					transcription from RNA polymerase II promoter	centrosome|cytosol|nucleus|plasma membrane	protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			AGTTTCAGGTGACTGAGCCTG	0.448			Mis		"NSCLC, HNSCC"					HNSCC(56;0.16)			31	15					0	0	1	0	0	C	178097223	G	C	178097223	4	2	164	1	0	0	0	0	0	1	0	0	10415	1294	45	5	1334	5	NFE2L2	2	178097223	Nonsense_Mutation	SNP	G	TCGA-E1-A7YE-01A-11D-A34A-08	12126811	178097223	65102150	7	23303											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	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	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								35	43					0	0	1	0	0	T	209113112	C	T	209113112	3	4	164	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-E1-A7YE-01A-11D-A34A-08	31015889	209113112	34086261	8	23304											
ADAMTS9	56999	broad.mit.edu	37	3	64644310	64644310	+	Missense_Mutation	SNP	C	C	G			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr3:64644310C>G	ENST00000498707.1	-	4	1179	c.837G>C	c.(835-837)aaG>aaC	p.K279N	ADAMTS9_ENST00000295903.4_Missense_Mutation_p.K279N|ADAMTS9_ENST00000459780.1_Missense_Mutation_p.K279N	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	279					glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		TGTGGGTCCTCTTTTCTCTTG	0.438													79	118					0	0	1	0	0	G	64644310	C	G	64644310	3	3	164	1	0	0	0	0	1	0	0	0	272	912	32	4	5114	4	ADAMTS9	3	64644310	Missense_Mutation	SNP	C	TCGA-E1-A7YE-01A-11D-A34A-08		64644310	133378120	9	23305											
EPHA3	2042	broad.mit.edu	37	3	89390202	89390202	+	Silent	SNP	T	T	C			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr3:89390202T>C	ENST00000336596.2	+	4	1176	c.951T>C	c.(949-951)ccT>ccC	p.P317P	EPHA3_ENST00000494014.1_Silent_p.P317P|EPHA3_ENST00000452448.2_Silent_p.P317P	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	317	Cys-rich.					extracellular region|integral to plasma membrane	ATP binding			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		ACAAAGACCCTCCATCCATGG	0.433										TSP Lung(6;0.00050)			64	80					0	0	1	0	0	C	89390202	T	C	89390202	2	2	164	1	0	0	0	0	0	0	0	1	5196	1538	54	3		3	EPHA3	3	89390202	Silent	SNP	T	TCGA-E1-A7YE-01A-11D-A34A-08	24745892	89390202	108632228	10	23306											
PVRL3	25945	broad.mit.edu	37	3	110837743	110837743	+	Missense_Mutation	SNP	T	T	C			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr3:110837743T>C	ENST00000485303.1	+	3	1018	c.743T>C	c.(742-744)gTa>gCa	p.V248A	PVRL3_ENST00000493615.1_Missense_Mutation_p.V225A|PVRL3_ENST00000319792.3_Missense_Mutation_p.V248A	NM_001243286.1|NM_015480.2	NP_001230215.1|NP_056295.1	Q9NQS3	PVRL3_HUMAN	poliovirus receptor-related 3	248	Ig-like C2-type 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane	cell adhesion molecule binding|protein homodimerization activity			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(3)	19						ACTTGTGTTGTAAAACATCCA	0.363													13	79					0	0	1	0	0	C	110837743	T	C	110837743	3	2	164	1	0	0	0	0	1	0	0	0	12893	1638	57	3	753	3	PVRL3	3	110837743	Missense_Mutation	SNP	T	TCGA-E1-A7YE-01A-11D-A34A-08	21447541	110837743	87184687	11	23307											
SLC15A2	6565	broad.mit.edu	37	3	121634491	121634491	+	Missense_Mutation	SNP	C	C	G			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr3:121634491C>G	ENST00000489711.1	+	7	1036	c.648C>G	c.(646-648)tgC>tgG	p.C216W	SLC15A2_ENST00000295605.2_Missense_Mutation_p.C185W	NM_021082.3	NP_066568.3	Q16348	S15A2_HUMAN	solute carrier family 15 (oligopeptide transporter), member 2	216					protein transport	integral to plasma membrane	peptide:hydrogen symporter activity|protein binding			NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(114;0.0967)	Cefadroxil(DB01140)	GAGAAGACTGCTATGCATTGG	0.398													53	105					0	0	1	0	0	G	121634491	C	G	121634491	3	3	164	1	0	0	0	0	1	0	0	0	14454	805	28	4	674	4	SLC15A2	3	121634491	Missense_Mutation	SNP	C	TCGA-E1-A7YE-01A-11D-A34A-08	10796748	121634491	76387939	12	23308											
ACPP	55	broad.mit.edu	37	3	132068806	132068806	+	Missense_Mutation	SNP	C	C	G			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr3:132068806C>G	ENST00000336375.5	+	8	914	c.824C>G	c.(823-825)aCt>aGt	p.T275S	ACPP_ENST00000475741.1_Missense_Mutation_p.T242S|ACPP_ENST00000351273.7_Missense_Mutation_p.T275S	NM_001099.4	NP_001090.2	P15309	PPAP_HUMAN	acid phosphatase, prostate	275						extracellular region|lysosomal membrane	5'-nucleotidase activity|acid phosphatase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(5)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	27						AAGAGAGCAACTCAGATACCA	0.348													24	43					0	0	1	0	0	G	132068806	C	G	132068806	3	3	164	1	0	0	0	0	1	0	0	0	167	565	20	4	854	4	ACPP	3	132068806	Missense_Mutation	SNP	C	TCGA-E1-A7YE-01A-11D-A34A-08	10434315	132068806	65953624	13	23309											
CLDN16	10686	broad.mit.edu	37	3	190127816	190127816	+	Silent	SNP	A	A	C			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr3:190127816A>C	ENST00000264734.2	+	5	1157	c.909A>C	c.(907-909)acA>acC	p.T303T		NM_006580.3	NP_006571.1	Q9Y5I7	CLD16_HUMAN	claudin 16	303					calcium-independent cell-cell adhesion|cellular metal ion homeostasis|excretion	integral to membrane|tight junction	identical protein binding|magnesium ion transmembrane transporter activity|structural molecule activity			breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|skin(1)	19	all_cancers(143;3.61e-10)|Ovarian(172;0.0991)		Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05)	GBM - Glioblastoma multiforme(93;0.018)		CTGTAGACACAAGGGTGTAAA	0.423													29	48					0	0	1	0	0	C	190127816	A	C	190127816	2	2	164	1	0	0	0	0	0	0	0	1	3500	117	5	5		5	CLDN16	3	190127816	Silent	SNP	A	TCGA-E1-A7YE-01A-11D-A34A-08	58059010	190127816	7894614	14	23310											
MUC4	4585	broad.mit.edu	37	3	195484133	195484133	+	Missense_Mutation	SNP	C	C	G			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr3:195484133C>G	ENST00000463781.3	-	18	15512	c.15053G>C	c.(15052-15054)aGt>aCt	p.S5018T	MUC4_ENST00000346145.4_Missense_Mutation_p.S782T|MUC4_ENST00000349607.4_Missense_Mutation_p.S731T|MUC4_ENST00000475231.1_Missense_Mutation_p.S4966T	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	1775					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		AATCTTGGCACTTCTTGCTAG	0.552													32	55					0	0	1	0	0	G	195484133	C	G	195484133	3	3	164	1	0	0	0	0	1	0	0	0	10026	565	20	4	1217	4	MUC4	3	195484133	Missense_Mutation	SNP	C	TCGA-E1-A7YE-01A-11D-A34A-08	5356317	195484133	2538297	15	23311											
LPHN3	23284	broad.mit.edu	37	4	62599060	62599060	+	Missense_Mutation	SNP	A	A	G			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr4:62599060A>G	ENST00000512091.2	+	7	1730	c.983A>G	c.(982-984)gAg>gGg	p.E328G	LPHN3_ENST00000511324.1_Missense_Mutation_p.E396G|LPHN3_ENST00000507625.1_Missense_Mutation_p.E396G|LPHN3_ENST00000508946.1_Missense_Mutation_p.E328G|LPHN3_ENST00000506700.1_Missense_Mutation_p.E328G|LPHN3_ENST00000514157.1_Missense_Mutation_p.E328G|LPHN3_ENST00000545650.1_Missense_Mutation_p.E328G|LPHN3_ENST00000514996.1_Missense_Mutation_p.E328G|LPHN3_ENST00000507164.1_Missense_Mutation_p.E396G|LPHN3_ENST00000504896.1_Missense_Mutation_p.E328G|LPHN3_ENST00000508693.1_Missense_Mutation_p.E396G|LPHN3_ENST00000506720.1_Missense_Mutation_p.E396G|LPHN3_ENST00000514591.1_Missense_Mutation_p.E328G|LPHN3_ENST00000509896.1_Missense_Mutation_p.E396G|LPHN3_ENST00000506746.1_Missense_Mutation_p.E396G			Q9HAR2	LPHN3_HUMAN	latrophilin 3		Olfactomedin-like.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						TCTGTATATGAGGATGATGAC	0.388													4	34					0	0	1	0	0	G	62599060	A	G	62599060	3	3	164	1	0	0	0	0	1	0	0	0	8962	304	11	3	1001	3	LPHN3	4	62599060	Missense_Mutation	SNP	A	TCGA-E1-A7YE-01A-11D-A34A-08		62599060	128555216	16	23312											
UGT2A3	79799	broad.mit.edu	37	4	69817371	69817371	+	Missense_Mutation	SNP	C	C	A			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr4:69817371C>A	ENST00000251566.4	-	1	138	c.108G>T	c.(106-108)tgG>tgT	p.W36C		NM_024743.3	NP_079019.3	Q6UWM9	UD2A3_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A3	36						integral to membrane	glucuronosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						TGACATTAAGCCAATGGCTCA	0.473													14	75					0.000308642	0.000314694	1	1	0	A	69817371	C	A	69817371	3	1	164	1	0	0	0	0	1	0	0	0	17015	740	26	5	1499	5	UGT2A3	4	69817371	Missense_Mutation	SNP	C	TCGA-E1-A7YE-01A-11D-A34A-08	7218311	69817371	121336905	17	23313											
FAT4	79633	broad.mit.edu	37	4	126369874	126369874	+	Missense_Mutation	SNP	G	G	C			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr4:126369874G>C	ENST00000394329.3	+	9	7716	c.7703G>C	c.(7702-7704)aGa>aCa	p.R2568T	FAT4_ENST00000335110.5_Missense_Mutation_p.R866T	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2568	Cadherin 25.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CCTAAAGTGAGAGCCAAAGAA	0.413													19	42					0	0	1	0	0	C	126369874	G	C	126369874	3	2	164	1	0	0	0	0	1	0	0	0	5725	942	33	4	7737	4	FAT4	4	126369874	Missense_Mutation	SNP	G	TCGA-E1-A7YE-01A-11D-A34A-08	56552503	126369874	64784402	18	23314											
FAT4	79633	broad.mit.edu	37	4	126402777	126402777	+	Nonsense_Mutation	SNP	C	C	T			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr4:126402777C>T	ENST00000394329.3	+	15	12713	c.12700C>T	c.(12700-12702)Cga>Tga	p.R4234*	FAT4_ENST00000335110.5_Nonsense_Mutation_p.R2475*	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4234	Laminin G-like 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GCAAAGCTTACGAGGTGCCAT	0.443													11	87					0	0	1	0	0	T	126402777	C	T	126402777	4	4	164	1	0	0	0	0	0	1	0	0	5725	528	19	1	12758	1	FAT4	4	126402777	Nonsense_Mutation	SNP	C	TCGA-E1-A7YE-01A-11D-A34A-08	32903	126402777	64751499	19	23315											
GLRB	2743	broad.mit.edu	37	4	158057967	158057967	+	Missense_Mutation	SNP	C	C	G			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr4:158057967C>G	ENST00000264428.4	+	6	809	c.539C>G	c.(538-540)aCt>aGt	p.T180S	GLRB_ENST00000512619.1_Intron|GLRB_ENST00000509282.1_Missense_Mutation_p.T180S|GLRB_ENST00000541722.1_Missense_Mutation_p.T180S	NM_000824.4	NP_000815.1	P48167	GLRB_HUMAN	glycine receptor, beta	180					nervous system development|neuropeptide signaling pathway|startle response	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|protein binding|receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(6)|skin(5)|upper_aerodigestive_tract(1)	27	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707)	Glycine(DB00145)	TTATCTATTACTCTTTCATGC	0.343													23	41					0	0	1	0	0	G	158057967	C	G	158057967	3	3	164	1	0	0	0	0	1	0	0	0	6500	565	20	4	557	4	GLRB	4	158057967	Missense_Mutation	SNP	C	TCGA-E1-A7YE-01A-11D-A34A-08	31655190	158057967	33096309	20	23316											
FAT1	2195	broad.mit.edu	37	4	187542106	187542106	+	Silent	SNP	C	C	A			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr4:187542106C>A	ENST00000441802.2	-	10	5843	c.5634G>T	c.(5632-5634)gtG>gtT	p.V1878V		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	1878	Cadherin 16.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						GCTTGGCAAACACAGGGGGGC	0.408										HNSCC(5;0.00058)			4	42					0.150653	0.152116	1	1	0	A	187542106	C	A	187542106	2	1	164	1	0	0	0	0	0	0	0	1	5722	465	17	5		5	FAT1	4	187542106	Silent	SNP	C	TCGA-E1-A7YE-01A-11D-A34A-08	29484139	187542106	3612170	21	23317											
PRDM9	56979	broad.mit.edu	37	5	23526454	23526454	+	Silent	SNP	A	A	G			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr5:23526454A>G	ENST00000296682.3	+	11	1439	c.1257A>G	c.(1255-1257)ccA>ccG	p.P419P		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	419					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						TCCCAGGACCATCTGCAAGAA	0.478										HNSCC(3;0.000094)			28	51					0	0	1	0	0	G	23526454	A	G	23526454	2	3	164	1	0	0	0	0	0	0	0	1	12515	204	8	3		3	PRDM9	5	23526454	Silent	SNP	A	TCGA-E1-A7YE-01A-11D-A34A-08		23526454	157388806	22	23318											
PIK3R1	5295	broad.mit.edu	37	5	67591247	67591247	+	Splice_Site	SNP	G	G	C			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr5:67591247G>C	ENST00000521381.1	+	14	2361		c.e14-1		PIK3R1_ENST00000336483.5_Splice_Site|PIK3R1_ENST00000274335.5_Splice_Site|PIK3R1_ENST00000320694.8_Splice_Site|PIK3R1_ENST00000523872.1_Splice_Site|PIK3R1_ENST00000521657.1_Splice_Site|PIK3R1_ENST00000396611.1_Splice_Site	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)						epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.?(4)|p.Y580fs*1(1)|p.0?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	CTGTTTTTCAGGTGGTTGACT	0.363			"Mis, F, O"		"gliobastoma, ovarian, colorectal"					TCGA GBM(4;<1E-08)			22	47					0	0	1	0	0	C	67591247	G	C	67591247	5	2	164	1	0	0	0	0	0	0	1	0	11966	1014	35	4	1925	4	PIK3R1	5	67591247	Splice_Site	SNP	G	TCGA-E1-A7YE-01A-11D-A34A-08	44064793	67591247	113324013	23	23319											
MATR3	9782	broad.mit.edu	37	5	138657690	138657690	+	Missense_Mutation	SNP	C	C	G			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr5:138657690C>G	ENST00000394800.2	+	14	2255	c.1706C>G	c.(1705-1707)tCt>tGt	p.S569C	MATR3_ENST00000503811.1_Missense_Mutation_p.S281C|MATR3_ENST00000509990.1_Missense_Mutation_p.S569C|MATR3_ENST00000502929.1_Missense_Mutation_p.S569C|MATR3_ENST00000510056.1_Missense_Mutation_p.S569C|MATR3_ENST00000361059.2_Missense_Mutation_p.S569C|MATR3_ENST00000504203.1_Missense_Mutation_p.S231C|MATR3_ENST00000394805.3_Missense_Mutation_p.S569C|MATR3_ENST00000502499.1_Missense_Mutation_p.S231C			P43243	MATR3_HUMAN	matrin 3	569	RRM 2.					nuclear inner membrane|nuclear matrix	nucleotide binding|protein binding|RNA binding|structural molecule activity|zinc ion binding			breast(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			GTTGACCTGTCTGAGAAATAT	0.348													33	55					0	0	1	0	0	G	138657690	C	G	138657690	3	3	164	1	0	0	0	0	1	0	0	0	9387	913	32	4	1740	4	MATR3	5	138657690	Missense_Mutation	SNP	C	TCGA-E1-A7YE-01A-11D-A34A-08	71066443	138657690	42257570	24	23320											
PCDHA7	56141	broad.mit.edu	37	5	140215035	140215035	+	Missense_Mutation	SNP	C	C	G			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr5:140215035C>G	ENST00000525929.1	+	1	1067	c.1067C>G	c.(1066-1068)tCt>tGt	p.S356C	PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA7_ENST00000378125.3_Missense_Mutation_p.S356C	NM_018910.2	NP_061733.1														NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACTTCCCTGTCTCTCCCTATT	0.502													45	73					0	0	1	0	0	G	140215035	C	G	140215035	3	3	164	1	0	0	0	0	1	0	0	0	11576	913	32	4	1069	4	PCDHA7	5	140215035	Missense_Mutation	SNP	C	TCGA-E1-A7YE-01A-11D-A34A-08	1557345	140215035	40700225	25	23321											
FLT4	2324	broad.mit.edu	37	5	180038441	180038441	+	Missense_Mutation	SNP	C	C	G			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr5:180038441C>G	ENST00000261937.6	-	27	3654	c.3576G>C	c.(3574-3576)caG>caC	p.Q1192H	FLT4_ENST00000502649.1_Missense_Mutation_p.Q1192H|FLT4_ENST00000393347.3_Missense_Mutation_p.Q1192H	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	1192					positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	CTTCTGAGCTCTGAGAGCTGC	0.672													40	18					0	0	1	0	0	G	180038441	C	G	180038441	3	3	164	1	0	0	0	0	1	0	0	0	5977	912	32	4	539	4	FLT4	5	180038441	Missense_Mutation	SNP	C	TCGA-E1-A7YE-01A-11D-A34A-08	39823406	180038441	876819	26	23322											
TAP2	6891	broad.mit.edu	37	6	32782245	32782245	+	Silent	SNP	T	T	C			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr6:32782245T>C	ENST00000452392.2	-	14	2489	c.2316A>G	c.(2314-2316)agA>agG	p.R772R	HLA-DOB_ENST00000438763.2_Silent_p.R165R			Q03519	TAP2_HUMAN	transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)	0					antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent|cytosol to ER transport|intracellular transport of viral proteins in host cell|peptide antigen transport|positive regulation of antigen processing and presentation of peptide antigen via MHC class I|positive regulation of T cell mediated cytotoxicity	nucleus|plasma membrane|TAP complex	ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|tapasin binding										TGACCCCAGCTCTCTCCTCCT	0.522													14	132					0	0	1	0	0	C	32782245	T	C	32782245	2	2	164	1	0	0	0	0	0	0	0	1	15608	1548	54	3		3	TAP2	6	32782245	Silent	SNP	T	TCGA-E1-A7YE-01A-11D-A34A-08		32782245	138332822	27	23323											
BAK1	578	broad.mit.edu	37	6	33543653	33543653	+	Silent	SNP	G	G	A			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr6:33543653G>A	ENST00000374467.3	-	3	371	c.123C>T	c.(121-123)taC>taT	p.Y41Y	BAK1_ENST00000442998.2_Silent_p.Y41Y|BAK1_ENST00000360661.5_Silent_p.Y41Y	NM_001188.3	NP_001179.1	Q16611	BAK_HUMAN	BCL2-antagonist/killer 1	41					activation of pro-apoptotic gene products|cellular response to mechanical stimulus|cellular response to UV|establishment or maintenance of transmembrane electrochemical gradient|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|regulation of mitochondrial membrane permeability|regulation of mitochondrial membrane potential|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|release of cytochrome c from mitochondria	integral to mitochondrial outer membrane|pore complex	metal ion binding|protein heterodimerization activity			large_intestine(1)|lung(1)|ovary(1)|skin(1)	4						GCTGATGGCGGTAAAAAACGT	0.597													3	60					0	0	1	0	0	A	33543653	G	A	33543653	2	1	164	1	0	0	0	0	0	0	0	1	1303	1256	44	2		2	BAK1	6	33543653	Silent	SNP	G	TCGA-E1-A7YE-01A-11D-A34A-08	761408	33543653	137571414	28	23324											
GTF2IRD1	9569	broad.mit.edu	37	7	73927216	73927216	+	Missense_Mutation	SNP	G	G	C			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr7:73927216G>C	ENST00000476977.1	+	3	1871	c.180G>C	c.(178-180)gaG>gaC	p.E60D	GTF2IRD1_ENST00000265755.3_Missense_Mutation_p.E60D|GTF2IRD1_ENST00000455841.2_Missense_Mutation_p.E60D|GTF2IRD1_ENST00000424337.2_Missense_Mutation_p.E60D|GTF2IRD1_ENST00000489094.1_3'UTR			Q9UHL9	GT2D1_HUMAN	GTF2I repeat domain containing 1	60						nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(19)|ovary(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						TGCACGATGAGAGCGCCTTTG	0.607													15	45					0	0	1	0	0	C	73927216	G	C	73927216	3	2	164	1	0	0	0	0	1	0	0	0	6909	933	33	4	186	4	GTF2IRD1	7	73927216	Missense_Mutation	SNP	G	TCGA-E1-A7YE-01A-11D-A34A-08		73927216	85211447	29	23325											
TRRAP	8295	broad.mit.edu	37	7	98497312	98497312	+	Missense_Mutation	SNP	T	T	C			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr7:98497312T>C	ENST00000359863.4	+	10	931	c.722T>C	c.(721-723)cTg>cCg	p.L241P	TRRAP_ENST00000446306.3_Missense_Mutation_p.L241P|TRRAP_ENST00000355540.3_Missense_Mutation_p.L241P	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	241					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			CTCTACAAACTGAACATCCAC	0.443													4	156					0	0	1	0	0	C	98497312	T	C	98497312	3	2	164	1	0	0	0	0	1	0	0	0	16662	1580	55	3	756	3	TRRAP	7	98497312	Missense_Mutation	SNP	T	TCGA-E1-A7YE-01A-11D-A34A-08	24570096	98497312	60641351	30	23326											
SRRT	51593	broad.mit.edu	37	7	100478923	100478923	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr7:100478923G>A	ENST00000388793.4	+	3	360	c.140G>A	c.(139-141)cGt>cAt	p.R47H	SRRT_ENST00000347433.4_Missense_Mutation_p.R47H|SRRT_ENST00000432932.1_Missense_Mutation_p.R47H|SRRT_ENST00000457580.2_Missense_Mutation_p.R47H	NM_001128852.1|NM_015908.5	NP_001122324.1|NP_056992.4	Q9BXP5	SRRT_HUMAN	serrate RNA effector molecule homolog (Arabidopsis)	47	Arg-rich.				cell proliferation|primary miRNA processing|response to arsenic-containing substance	cytoplasm|nucleoplasm	protein binding			breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						GACCGTGGCCGTGAGCGCCGT	0.582													72	113					0	0	1	0	0	A	100478923	G	A	100478923	3	1	164	1	0	0	0	0	1	0	0	0	15228	1145	40	1	146	1	SRRT	7	100478923	Missense_Mutation	SNP	G	TCGA-E1-A7YE-01A-11D-A34A-08	1981611	100478923	58659740	31	23327											
SERPINE1	5054	broad.mit.edu	37	7	100780300	100780300	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr7:100780300G>A	ENST00000223095.4	+	8	1263	c.1106G>A	c.(1105-1107)cGc>cAc	p.R369H	SERPINE1_ENST00000445463.2_Missense_Mutation_p.R354H	NM_000602.4	NP_000593.1	P05121	PAI1_HUMAN	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	369		Reactive bond.			angiogenesis|cellular response to chemical stimulus|cellular response to lipopolysaccharide|chronological cell aging|defense response to Gram-negative bacterium|fibrinolysis|negative regulation of apoptosis|negative regulation of cell adhesion mediated by integrin|negative regulation of fibrinolysis|negative regulation of plasminogen activation|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell-matrix adhesion|negative regulation of vascular wound healing|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of interleukin-8 production|positive regulation of leukotriene production involved in inflammatory response|positive regulation of monocyte chemotaxis|positive regulation of receptor-mediated endocytosis|regulation of receptor activity	extracellular matrix|extracellular space|plasma membrane|platelet alpha granule lumen	protease binding|serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)	20	Lung NSC(181;0.136)|all_lung(186;0.182)				Atorvastatin(DB01076)|Dimethyl sulfoxide(DB01093)|Drotrecogin alfa(DB00055)|Simvastatin(DB00641)|Tenecteplase(DB00031)|Troglitazone(DB00197)|Urokinase(DB00013)	GTCTCAGCCCGCATGGCCCCC	0.582													3	74					0	0	1	0	0	A	100780300	G	A	100780300	3	1	164	1	0	0	0	0	1	0	0	0	14165	1087	38	1	1132	1	SERPINE1	7	100780300	Missense_Mutation	SNP	G	TCGA-E1-A7YE-01A-11D-A34A-08	301377	100780300	58358363	32	23328											
ARFGEF1	10565	broad.mit.edu	37	8	68116926	68116926	+	Missense_Mutation	SNP	C	C	G			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr8:68116926C>G	ENST00000262215.3	-	35	5337	c.4948G>C	c.(4948-4950)Gct>Cct	p.A1650P	ARFGEF1_ENST00000518230.1_Missense_Mutation_p.A488P|ARFGEF1_ENST00000520381.1_Missense_Mutation_p.A1104P	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	1650					exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			TGTGCTGCAGCTAAGTTTTCT	0.433													36	67					0	0	1	0	0	G	68116926	C	G	68116926	3	3	164	1	0	0	0	0	1	0	0	0	849	797	28	4	621	4	ARFGEF1	8	68116926	Missense_Mutation	SNP	C	TCGA-E1-A7YE-01A-11D-A34A-08		68116926	78247096	33	23329											
E2F5	1875	broad.mit.edu	37	8	86115377	86115377	+	Silent	SNP	A	A	G			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr8:86115377A>G	ENST00000418930.2	+	3	589	c.393A>G	c.(391-393)agA>agG	p.R131R	E2F5_ENST00000519128.1_3'UTR|E2F5_ENST00000521429.1_5'UTR|E2F5_ENST00000256117.5_Silent_p.R131R|E2F5_ENST00000517476.1_5'UTR|E2F5_ENST00000416274.2_Silent_p.R131R			Q15329	E2F5_HUMAN	E2F transcription factor 5, p130-binding	131	Dimerization (Potential).				G1 phase of mitotic cell cycle	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			NS(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)	8						ATAGATTAAGATATCTTAAAG	0.343													8	12					0	0	1	0	0	G	86115377	A	G	86115377	2	3	164	1	0	0	0	0	0	0	0	1	4896	330	12	3		3	E2F5	8	86115377	Silent	SNP	A	TCGA-E1-A7YE-01A-11D-A34A-08	17998451	86115377	60248645	34	23330											
ROR2	4920	broad.mit.edu	37	9	94486331	94486331	+	Silent	SNP	C	C	T			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr9:94486331C>T	ENST00000375708.3	-	9	2643	c.2445G>A	c.(2443-2445)ccG>ccA	p.P815P	ROR2_ENST00000375715.1_Intron|ROR2_ENST00000550066.1_5'UTR	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	815	Pro-rich.				negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						CGTAGAGCTGCGGCGGGGGCA	0.677													11	36					0	0	1	0	0	T	94486331	C	T	94486331	2	4	164	1	0	0	0	0	0	0	0	1	13579	755	27	1		1	ROR2	9	94486331	Silent	SNP	C	TCGA-E1-A7YE-01A-11D-A34A-08		94486331	46727100	35	23331											
DIP2C	22982	broad.mit.edu	37	10	735479	735479	+	Frame_Shift_Del	DEL	C	C	-			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr10:735479delC	ENST00000280886.6	-	1	127	c.40delG	c.(40-42)gagfs	p.E14fs		NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	14						nucleus	catalytic activity|transcription factor binding			breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		GCCCGCACCTCCAGGGGCAGC	0.791													2	4	---	---	---	---						-	735479	C	-	735479	7	5	164	1	0	1	0	1	0	0	0	0	4557	864	30	0	4778	0	DIP2C	10	735479	Frame_Shift_Del	DEL	C	TCGA-E1-A7YE-01A-11D-A34A-08		735479	134799268	36	23332											
GATA3	2625	broad.mit.edu	37	10	8100475	8100475	+	Missense_Mutation	SNP	T	T	C			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr10:8100475T>C	ENST00000379328.3	+	3	1017	c.449T>C	c.(448-450)cTc>cCc	p.L150P	GATA3_ENST00000346208.3_Missense_Mutation_p.L150P|GATA3_ENST00000461472.1_3'UTR	NM_001002295.1|NM_002051.2	NP_001002295.1|NP_002042.1	P23771	GATA3_HUMAN	GATA binding protein 3	150					aortic valve morphogenesis|blood coagulation|canonical Wnt receptor signaling pathway involved in metanephric kidney development|cardiac right ventricle morphogenesis|cell fate determination|cellular response to interferon-alpha|cellular response to interleukin-4|cellular response to tumor necrosis factor|defense response|ear development|lymphocyte migration|male gonad development|mesenchymal to epithelial transition|mesonephros development|negative regulation of cell cycle|negative regulation of cell motility|negative regulation of cell proliferation involved in mesonephros development|negative regulation of endothelial cell apoptosis|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation|negative regulation of inflammatory response|negative regulation of mammary gland epithelial cell proliferation|nephric duct formation|norepinephrine biosynthetic process|pharyngeal system development|phosphatidylinositol 3-kinase cascade|positive regulation of endothelial cell migration|positive regulation of interleukin-13 secretion|positive regulation of interleukin-4 production|positive regulation of interleukin-5 secretion|positive regulation of protein kinase B signaling cascade|positive regulation of T cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of ureteric bud formation|regulation of cellular response to X-ray|regulation of cytokine biosynthetic process|regulation of nephron tubule epithelial cell differentiation|response to estrogen stimulus|response to virus|sympathetic nervous system development|T cell receptor signaling pathway|TOR signaling cascade|ureteric bud formation|uterus development|ventricular septum development	nuclear chromatin|nucleolus|nucleoplasm	core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|E-box binding|HMG box domain binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription coactivator activity|transcription factor binding|zinc ion binding			NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2)	87						AGCCCGCACCTCTTCACCTTC	0.721			"F, N, S"		breast		"HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"						13	30					0	0	1	0	0	C	8100475	T	C	8100475	3	2	164	1	0	0	0	0	1	0	0	0	6295	1551	54	3	455	3	GATA3	10	8100475	Missense_Mutation	SNP	T	TCGA-E1-A7YE-01A-11D-A34A-08	7364996	8100475	127434272	37	23333											
ANKRD30A	91074	broad.mit.edu	37	10	37486356	37486356	+	Missense_Mutation	SNP	G	G	C			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr10:37486356G>C	ENST00000374660.1	+	35	2952	c.2853G>C	c.(2851-2853)aaG>aaC	p.K951N	ANKRD30A_ENST00000602533.1_Missense_Mutation_p.K832N|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.K832N			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	1000						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						AAATGCAAAAGTCTGTTCCAA	0.308													4	208					0	0	1	0	0	C	37486356	G	C	37486356	3	2	164	1	0	0	0	0	1	0	0	0	654	1020	36	4	2610	4	ANKRD30A	10	37486356	Missense_Mutation	SNP	G	TCGA-E1-A7YE-01A-11D-A34A-08	29385881	37486356	98048391	38	23334											
ZWINT	11130	broad.mit.edu	37	10	58118576	58118576	+	Missense_Mutation	SNP	T	T	G			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr10:58118576T>G	ENST00000373944.3	-	6	651	c.613A>C	c.(613-615)Aag>Cag	p.K205Q	ZWINT_ENST00000460654.1_5'UTR|ZWINT_ENST00000395405.1_Missense_Mutation_p.K205Q|ZWINT_ENST00000361148.6_Intron|ZWINT_ENST00000318387.2_Missense_Mutation_p.K85Q			O95229	ZWINT_HUMAN	ZW10 interacting kinetochore protein	205					cell division|establishment of localization in cell|mitotic cell cycle checkpoint|mitotic prometaphase|mitotic sister chromatid segregation|phosphatidylinositol-mediated signaling|spindle organization	condensed chromosome kinetochore|cytosol|nucleus	protein N-terminus binding			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)	20						CTCTGCAGCTTGTCCCGCTCC	0.522													17	91					0	0	1	0	0	G	58118576	T	G	58118576	3	3	164	1	0	0	0	0	1	0	0	0	18289	1821	63	5	232	5	ZWINT	10	58118576	Missense_Mutation	SNP	T	TCGA-E1-A7YE-01A-11D-A34A-08	20632220	58118576	77416171	39	23335											
OIT3	170392	broad.mit.edu	37	10	74692199	74692199	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr10:74692199C>T	ENST00000334011.5	+	9	1773	c.1555C>T	c.(1555-1557)Cgt>Tgt	p.R519C		NM_152635.1	NP_689848.1	Q8WWZ8	OIT3_HUMAN	oncoprotein induced transcript 3	519						nuclear envelope	calcium ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)	35	Prostate(51;0.0198)					GCGAATGCGTCGTGGGGCAGG	0.612													9	76					0	0	1	0	0	T	74692199	C	T	74692199	3	4	164	1	0	0	0	0	1	0	0	0	10897	884	31	1	1589	1	OIT3	10	74692199	Missense_Mutation	SNP	C	TCGA-E1-A7YE-01A-11D-A34A-08	16573623	74692199	60842548	40	23336											
LGI1	9211	broad.mit.edu	37	10	95556899	95556899	+	Missense_Mutation	SNP	T	T	A			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr10:95556899T>A	ENST00000371418.4	+	8	1273	c.1013T>A	c.(1012-1014)tTc>tAc	p.F338Y	LGI1_ENST00000371413.3_Intron|LGI1_ENST00000542308.1_Missense_Mutation_p.F290Y	NM_005097.2	NP_005088.1	O95970	LGI1_HUMAN	leucine-rich, glioma inactivated 1	338					axon guidance|cell proliferation|positive regulation of cell growth|positive regulation of synaptic transmission	cell junction|extracellular space|synapse	receptor binding			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(18)|ovary(2)|skin(1)	29		Colorectal(252;0.124)				ATTGAAACATTCAAGATTGAA	0.353													22	42					0	0	1	0	0	A	95556899	T	A	95556899	3	1	164	1	0	0	0	0	1	0	0	0	8791	1783	62	5	1043	5	LGI1	10	95556899	Missense_Mutation	SNP	T	TCGA-E1-A7YE-01A-11D-A34A-08	20864700	95556899	39977848	41	23337											
TACC2	10579	broad.mit.edu	37	10	123846263	123846263	+	Silent	SNP	C	C	T			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr10:123846263C>T	ENST00000369005.1	+	4	4588	c.4248C>T	c.(4246-4248)ttC>ttT	p.F1416F	TACC2_ENST00000515273.1_Silent_p.F1416F|TACC2_ENST00000515603.1_Silent_p.F1416F|TACC2_ENST00000334433.3_Silent_p.F1416F|TACC2_ENST00000453444.2_Silent_p.F1416F|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000513429.1_Intron	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	1416						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				CCAAGATCTTCGAGAAGCCTG	0.592													3	48					0	0	1	0	0	T	123846263	C	T	123846263	2	4	164	1	0	0	0	0	0	0	0	1	15559	883	31	1		1	TACC2	10	123846263	Silent	SNP	C	TCGA-E1-A7YE-01A-11D-A34A-08	28289364	123846263	11688484	42	23338											
TUBGCP2	10844	broad.mit.edu	37	10	135106174	135106174	+	Missense_Mutation	SNP	C	C	G			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr10:135106174C>G	ENST00000368563.2	-	8	1399	c.1043G>C	c.(1042-1044)gGc>gCc	p.G348A	TUBGCP2_ENST00000543663.1_Missense_Mutation_p.G376A|TUBGCP2_ENST00000252936.3_Missense_Mutation_p.G348A|TUBGCP2_ENST00000417178.2_Missense_Mutation_p.G218A	NM_001256617.1|NM_006659.3	NP_001243546.1|NP_006650.1	Q9BSJ2	GCP2_HUMAN	tubulin, gamma complex associated protein 2	348					G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly	centrosome|cytoplasmic microtubule|cytosol|spindle pole	protein binding			breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	35		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.87e-06)|all cancers(32;8.98e-06)|Epithelial(32;1.15e-05)		AAGACATTCGCCTTTGTCCAC	0.622													8	14					0	0	1	0	0	G	135106174	C	G	135106174	3	3	164	1	0	0	0	0	1	0	0	0	16828	739	26	5	1709	5	TUBGCP2	10	135106174	Missense_Mutation	SNP	C	TCGA-E1-A7YE-01A-11D-A34A-08	11259911	135106174	428573	43	23339											
DYNC2H1	79659	broad.mit.edu	37	11	103058176	103058176	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr11:103058176C>T	ENST00000375735.2	+	43	7145	c.7001C>T	c.(7000-7002)aCt>aTt	p.T2334I	DYNC2H1_ENST00000398093.3_Missense_Mutation_p.T2334I|DYNC2H1_ENST00000334267.7_Intron	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	2334	AAA 3 (By similarity).				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		CTGAGCCAGACTTGCATGGTA	0.418													49	81					0	0	1	0	0	T	103058176	C	T	103058176	3	4	164	1	0	0	0	0	1	0	0	0	4872	565	20	2	7171	2	DYNC2H1	11	103058176	Missense_Mutation	SNP	C	TCGA-E1-A7YE-01A-11D-A34A-08		103058176	31948340	44	23340											
DDX10	1662	broad.mit.edu	37	11	108577517	108577517	+	Silent	SNP	T	T	A			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr11:108577517T>A	ENST00000526794.1	+	10	1307	c.1275T>A	c.(1273-1275)gcT>gcA	p.A425A	DDX10_ENST00000322536.3_Silent_p.A425A			Q13206	DDX10_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 10	425	Helicase C-terminal.						ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|prostate(2)	27		all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729)		BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133)		CAGAAAAAGCTATGGTGCAGC	0.358			T	NUP98	AML*								81	119					0	0	1	0	0	A	108577517	T	A	108577517	2	1	164	1	0	0	0	0	0	0	0	1	4365	1509	53	5		5	DDX10	11	108577517	Silent	SNP	T	TCGA-E1-A7YE-01A-11D-A34A-08	5519341	108577517	26428999	45	23341											
PRB1	5542	broad.mit.edu	37	12	11507489	11507489	+	Splice_Site	SNP	C	C	G			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr12:11507489C>G	ENST00000500254.2	-	2	102		c.e2-1		PRB1_ENST00000545626.1_Splice_Site|PRB1_ENST00000546254.1_Intron	NM_005039.3|NM_199353.2	NP_005030.2|NP_955385.1	P04280	PRP1_HUMAN	proline-rich protein BstNI subfamily 1							extracellular region		p.?(1)		NS(1)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20			OV - Ovarian serous cystadenocarcinoma(49;0.185)			TGGCTGACATCTAGAAGAGAA	0.438													67	196					0	0	1	0	0	G	11507489	C	G	11507489	5	3	164	1	0	0	0	0	0	0	1	0	12494	927	32	4	939	4	PRB1	12	11507489	Splice_Site	SNP	C	TCGA-E1-A7YE-01A-11D-A34A-08		11507489	122344406	46	23342											
PDZRN4	29951	broad.mit.edu	37	12	41966618	41966618	+	Missense_Mutation	SNP	G	G	C			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr12:41966618G>C	ENST00000298919.7	+	10	1645	c.1257G>C	c.(1255-1257)gaG>gaC	p.E419D	PDZRN4_ENST00000539469.2_Missense_Mutation_p.E421D|PDZRN4_ENST00000402685.2_Missense_Mutation_p.E679D			Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	679	PDZ 2.						ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				TTGAGCTTGAGTGTCAGAATA	0.448													24	38					0	0	1	0	0	C	41966618	G	C	41966618	3	2	164	1	0	0	0	0	1	0	0	0	11757	1020	36	4	2148	4	PDZRN4	12	41966618	Missense_Mutation	SNP	G	TCGA-E1-A7YE-01A-11D-A34A-08	30459129	41966618	91885277	47	23343											
KRT1	3848	broad.mit.edu	37	12	53073597	53073597	+	Missense_Mutation	SNP	C	C	G	rs59044845		TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr12:53073597C>G	ENST00000252244.3	-	1	594	c.536G>C	c.(535-537)cGa>cCa	p.R179P		NM_006121.3	NP_006112.3	P04264	K2C1_HUMAN	keratin 1	179	Head.		Missing (in palmoplantar keratoderma; and mild ichthyosis largely limited to the flexural areas).		complement activation, lectin pathway|epidermis development|fibrinolysis|regulation of angiogenesis|response to oxidative stress	plasma membrane	protein binding|receptor activity|structural constituent of cytoskeleton|sugar binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3)	39						CTCCCTTTCTCGAGACTTCAC	0.502													50	86					0	0	1	0	0	G	53073597	C	G	53073597	3	3	164	1	0	0	0	0	1	0	0	0	8490	884	31	5	1434	5	KRT1	12	53073597	Missense_Mutation	SNP	C	TCGA-E1-A7YE-01A-11D-A34A-08	11106979	53073597	80778298	48	23344											
OR10G2	26534	broad.mit.edu	37	14	22102379	22102379	+	Missense_Mutation	SNP	T	T	C			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr14:22102379T>C	ENST00000542433.1	-	1	717	c.620A>G	c.(619-621)gAc>gGc	p.D207G		NM_001005466.1	NP_001005466.1	Q8NGC3	O10G2_HUMAN	olfactory receptor, family 10, subfamily G, member 2	207					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(2)	22	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0142)		TACCCTGACGTCCACAAAGGT	0.522													22	22					0	0	1	0	0	C	22102379	T	C	22102379	3	2	164	1	0	0	0	0	1	0	0	0	10947	1667	58	3	315	3	OR10G2	14	22102379	Missense_Mutation	SNP	T	TCGA-E1-A7YE-01A-11D-A34A-08		22102379	85247161	49	23345											
CDH24	64403	broad.mit.edu	37	14	23517549	23517549	+	Missense_Mutation	SNP	G	G	C			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr14:23517549G>C	ENST00000397359.3	-	13	2359	c.2100C>G	c.(2098-2100)atC>atG	p.I700M	CDH24_ENST00000485922.1_5'UTR|CDH24_ENST00000554034.1_Missense_Mutation_p.I662M|CDH24_ENST00000487137.2_Missense_Mutation_p.I662M|CDH24_ENST00000267383.5_Missense_Mutation_p.I700M	NM_022478.3	NP_071923.2	Q86UP0	CAD24_HUMAN	cadherin 24, type 2	700					adherens junction organization|cell junction assembly|cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|delta-catenin binding			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00654)		GCAAGGCCGTGATGTCGAAGG	0.711													47	65					0	0	1	0	0	C	23517549	G	C	23517549	3	2	164	1	0	0	0	0	1	0	0	0	3131	1280	45	5	363	5	CDH24	14	23517549	Missense_Mutation	SNP	G	TCGA-E1-A7YE-01A-11D-A34A-08	1415170	23517549	83831991	50	23346											
NFKBIA	4792	broad.mit.edu	37	14	35873813	35873813	+	Missense_Mutation	SNP	A	A	C			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr14:35873813A>C	ENST00000216797.5	-	1	139	c.38T>G	c.(37-39)aTg>aGg	p.M13R	NFKBIA_ENST00000557140.1_Missense_Mutation_p.M13R|NFKBIA_ENST00000557100.1_5'UTR	NM_020529.2	NP_065390.1	P25963	IKBA_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha	13					anti-apoptosis|apoptosis|cellular response to cold|cytoplasmic sequestering of NF-kappaB|innate immune response|interspecies interaction between organisms|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of DNA binding|negative regulation of lipid storage|negative regulation of macrophage derived foam cell differentiation|negative regulation of NF-kappaB transcription factor activity|nerve growth factor receptor signaling pathway|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|I-kappaB/NF-kappaB complex|nucleus|plasma membrane	identical protein binding|NF-kappaB binding|nuclear localization sequence binding|ubiquitin protein ligase binding			breast(3)|endometrium(1)|large_intestine(2)|liver(1)	7	Breast(36;0.0484)|Hepatocellular(127;0.158)		Lung(238;9.25e-06)|LUAD - Lung adenocarcinoma(48;1.53e-05)|Epithelial(34;0.00314)|all cancers(34;0.00891)	GBM - Glioblastoma multiforme(112;0.0222)		GGGGCCCTCCATGGCCCACTC	0.716													6	5					0	0	1	0	0	C	35873813	A	C	35873813	3	2	164	1	0	0	0	0	1	0	0	0	10424	217	8	4	939	4	NFKBIA	14	35873813	Missense_Mutation	SNP	A	TCGA-E1-A7YE-01A-11D-A34A-08	12356264	35873813	71475727	51	23347											
YLPM1	56252	broad.mit.edu	37	14	75266314	75266314	+	Silent	SNP	T	T	G			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr14:75266314T>G	ENST00000325680.7	+	5	4438	c.4314T>G	c.(4312-4314)tcT>tcG	p.S1438S	YLPM1_ENST00000238571.3_Silent_p.S1243S|YLPM1_ENST00000552421.1_Intron	NM_019589.2	NP_062535.2	P49750	YLPM1_HUMAN	YLP motif containing 1	1243					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck				breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		GCTTAGACTCTGACCAAGGCC	0.483													46	49					0	0	1	0	0	G	75266314	T	G	75266314	2	3	164	1	0	0	0	0	0	0	0	1	17546	1567	55	5		5	YLPM1	14	75266314	Silent	SNP	T	TCGA-E1-A7YE-01A-11D-A34A-08	39392501	75266314	32083226	52	23348											
NEDD4	4734	broad.mit.edu	37	15	56155250	56155250	+	Missense_Mutation	SNP	C	C	G			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr15:56155250C>G	ENST00000508342.1	-	5	2091	c.1792G>C	c.(1792-1794)Gat>Cat	p.D598H	NEDD4_ENST00000338963.2_Missense_Mutation_p.D526H|NEDD4_ENST00000506154.1_Intron|NEDD4_ENST00000435532.3_Missense_Mutation_p.D179H	NM_001284338.1	NP_001271267.1	P46934	NEDD4_HUMAN	neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase	598	Mediates interaction with TNIK (By similarity).				development involved in symbiotic interaction|glucocorticoid receptor signaling pathway|negative regulation of sodium ion transport|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage|negative regulation of vascular endothelial growth factor receptor signaling pathway|neuron projection development|positive regulation of nucleocytoplasmic transport|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein catabolic process|progesterone receptor signaling pathway|protein K63-linked ubiquitination|protein targeting to lysosome|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|receptor internalization|regulation of dendrite morphogenesis|response to calcium ion|transmission of virus	apicolateral plasma membrane|cell cortex|chromatin|cytosol|perinuclear region of cytoplasm|ubiquitin ligase complex	beta-2 adrenergic receptor binding|phosphoserine binding|phosphothreonine binding|proline-rich region binding|protein domain specific binding|RNA polymerase binding|sodium channel inhibitor activity|ubiquitin binding|ubiquitin-protein ligase activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	43				all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)		CAAGCAGCATCTGGTTGGTCC	0.423													17	26					0	0	1	0	0	G	56155250	C	G	56155250	3	3	164	1	0	0	0	0	1	0	0	0	10357	913	32	4	2251	4	NEDD4	15	56155250	Missense_Mutation	SNP	C	TCGA-E1-A7YE-01A-11D-A34A-08		56155250	46376142	53	23349											
PTPLAD1	51495	broad.mit.edu	37	15	65847277	65847277	+	Silent	SNP	C	C	T			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr15:65847277C>T	ENST00000261875.5	+	3	349	c.183C>T	c.(181-183)ttC>ttT	p.F61F	PTPLAD1_ENST00000566511.1_5'UTR|PTPLAD1_ENST00000442729.2_Silent_p.F61F|PTPLAD1_ENST00000568793.1_Silent_p.F36F|PTPLAD1_ENST00000569894.1_5'UTR|PTPLAD1_ENST00000565299.1_Silent_p.F99F|PTPLAD1_ENST00000562901.1_5'UTR|PTPLAD1_ENST00000566074.1_5'UTR	NM_016395.2	NP_057479.2	Q9P035	HACD3_HUMAN	protein tyrosine phosphatase-like A domain containing 1	61	CS.				activation of JUN kinase activity|fatty acid biosynthetic process|I-kappaB kinase/NF-kappaB cascade|Rac protein signal transduction	endoplasmic reticulum membrane|integral to membrane	GTPase activator activity|lyase activity|protein binding			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|pancreas(1)	5						ACCTGGAGTTCTTAGACCTTG	0.423													40	79					0	0	1	0	0	T	65847277	C	T	65847277	2	4	164	1	0	0	0	0	0	0	0	1	12825	912	32	2		2	PTPLAD1	15	65847277	Silent	SNP	C	TCGA-E1-A7YE-01A-11D-A34A-08	9692027	65847277	36684115	54	23350											
IL16	3603	broad.mit.edu	37	15	81518014	81518014	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr15:81518014G>A	ENST00000394660.2	+	2	634	c.274G>A	c.(274-276)Gat>Aat	p.D92N	IL16_ENST00000302987.4_Missense_Mutation_p.D92N	NM_001172128.1|NM_172217.3	NP_001165599.1|NP_757366.2	Q14005	IL16_HUMAN	interleukin 16	92					immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						AGCTGGGAATGATCGAGGCAA	0.542													6	23					0	0	1	0	0	A	81518014	G	A	81518014	3	1	164	1	0	0	0	0	1	0	0	0	7677	1290	45	2	276	2	IL16	15	81518014	Missense_Mutation	SNP	G	TCGA-E1-A7YE-01A-11D-A34A-08	15670737	81518014	21013378	55	23351											
EMP2	2013	broad.mit.edu	37	16	10631921	10631921	+	Silent	SNP	C	C	T	rs61731468	byFrequency	TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr16:10631921C>T	ENST00000359543.3	-	4	389	c.180G>A	c.(178-180)acG>acA	p.T60T	EMP2_ENST00000536829.1_Silent_p.T60T	NM_001424.4	NP_001415.1	P54851	EMP2_HUMAN	epithelial membrane protein 2	60					cell proliferation	integral to membrane		p.T60T(1)		NS(1)|endometrium(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	6						CCGCCTGCAGCGTGGAGTACT	0.622													4	93					0	0	1	0	0	T	10631921	C	T	10631921	2	4	164	1	0	0	0	0	0	0	0	1	5130	755	27	1		1	EMP2	16	10631921	Silent	SNP	C	TCGA-E1-A7YE-01A-11D-A34A-08		10631921	79722832	56	23352											
TP53	7157	broad.mit.edu	37	17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	rs121913343		TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr17:7577121G>A	ENST00000420246.2	-	8	949	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron|TP53_ENST00000269305.4_Missense_Mutation_p.R273C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	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).		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.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			8	28					0	0	1	0	0	A	7577121	G	A	7577121	3	1	164	1	0	0	0	0	1	0	0	0	16442	1087	38	1	469	1	TP53	17	7577121	Missense_Mutation	SNP	G	TCGA-E1-A7YE-01A-11D-A34A-08		7577121	73618089	57	23353	115	2									
TP53	7157	broad.mit.edu	37	17	7577124	7577124	+	Missense_Mutation	SNP	C	C	T	rs121912657		TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr17:7577124C>T	ENST00000420246.2	-	8	946	c.814G>A	c.(814-816)Gtg>Atg	p.V272M	TP53_ENST00000359597.4_Missense_Mutation_p.V272M|TP53_ENST00000445888.2_Missense_Mutation_p.V272M|TP53_ENST00000455263.2_Missense_Mutation_p.V272M|TP53_ENST00000413465.2_Intron|TP53_ENST00000269305.4_Missense_Mutation_p.V272M	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	272	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		V -> A (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|V -> E (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|V -> M (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.V272M(82)|p.V272L(26)|p.0?(8)|p.V272fs*73(4)|p.?(2)|p.F270fs*72(1)|p.E271fs*73(1)|p.V272fs*34(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.G266_E271delGRNSFE(1)|p.V272fs*74(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(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)		CAAACACGCACCTCAAAGCTG	0.527		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)			18	16					0	0	1	0	0	T	7577124	C	T	7577124	3	4	164	1	0	0	0	0	1	0	0	0	16442	507	18	2	472	2	TP53	17	7577124	Missense_Mutation	SNP	C	TCGA-E1-A7YE-01A-11D-A34A-08	3	7577124	73618086	58	23354	115	2									
MYH8	4626	broad.mit.edu	37	17	10296215	10296215	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr17:10296215C>T	ENST00000403437.2	-	37	5490	c.5396G>A	c.(5395-5397)cGt>cAt	p.R1799H	RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1799					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						CTCATCTAGACGATGCTGCAG	0.577									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				4	171					0	0	1	0	0	T	10296215	C	T	10296215	3	4	164	1	0	0	0	0	1	0	0	0	10089	536	19	1	433	1	MYH8	17	10296215	Missense_Mutation	SNP	C	TCGA-E1-A7YE-01A-11D-A34A-08	2719091	10296215	70898995	59	23355											
MYH1	4619	broad.mit.edu	37	17	10411733	10411733	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr17:10411733G>A	ENST00000226207.5	-	16	1938	c.1844C>T	c.(1843-1845)tCt>tTt	p.S615F	RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	615	Myosin head-like.					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						CTTCATTGCAGACTTCTGGTA	0.458													26	139					0	0	1	0	0	A	10411733	G	A	10411733	3	1	164	1	0	0	0	0	1	0	0	0	10077	942	33	2	4075	2	MYH1	17	10411733	Missense_Mutation	SNP	G	TCGA-E1-A7YE-01A-11D-A34A-08	115518	10411733	70783477	60	23356											
KRT28	162605	broad.mit.edu	37	17	38953433	38953433	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr17:38953433G>A	ENST00000306658.7	-	4	856	c.791C>T	c.(790-792)gCg>gTg	p.A264V		NM_181535.3	NP_853513.2	Q7Z3Y7	K1C28_HUMAN	keratin 28	264	Coil 2.|Rod.					cytoplasm|intermediate filament	structural molecule activity			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30		Breast(137;0.000301)				TTCGTACTCCGCTCGCATGTT	0.637													14	61					0	0	1	0	0	A	38953433	G	A	38953433	3	1	164	1	0	0	0	0	1	0	0	0	8508	1087	38	1	623	1	KRT28	17	38953433	Missense_Mutation	SNP	G	TCGA-E1-A7YE-01A-11D-A34A-08	28541700	38953433	42241777	61	23357											
CDC27	996	broad.mit.edu	37	17	45199936	45199936	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr17:45199936C>T	ENST00000066544.3	-	18	2359	c.2266G>A	c.(2266-2268)Gcc>Acc	p.A756T	CDC27_ENST00000446365.2_Missense_Mutation_p.A695T|CDC27_ENST00000527547.1_Missense_Mutation_p.A755T|CDC27_ENST00000531206.1_Missense_Mutation_p.A762T	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	756					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						TTCATCAGGGCGAGGTGCGTT	0.358													30	68					0	0	1	0	0	T	45199936	C	T	45199936	3	4	164	1	0	0	0	0	1	0	0	0	3088	768	27	1	216	1	CDC27	17	45199936	Missense_Mutation	SNP	C	TCGA-E1-A7YE-01A-11D-A34A-08	6246503	45199936	35995274	62	23358											
ACE	1636	broad.mit.edu	37	17	61560492	61560492	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr17:61560492G>A	ENST00000290866.4	+	9	1469	c.1445G>A	c.(1444-1446)cGt>cAt	p.R482H	ACE_ENST00000428043.1_Missense_Mutation_p.R482H|ACE_ENST00000538928.1_Intron|ACE_ENST00000584529.1_Intron	NM_000789.3	NP_000780.1	P12821	ACE_HUMAN	angiotensin I converting enzyme	482	Peptidase M2 1.				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	TTTAGTGGGCGTACCCCCCCT	0.552													7	172					0	0	1	0	0	A	61560492	G	A	61560492	3	1	164	1	0	0	0	0	1	0	0	0	136	1145	40	1	1479	1	ACE	17	61560492	Missense_Mutation	SNP	G	TCGA-E1-A7YE-01A-11D-A34A-08	16360556	61560492	19634718	63	23359											
WIPI1	55062	broad.mit.edu	37	17	66446947	66446947	+	Silent	SNP	C	C	G			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr17:66446947C>G	ENST00000262139.5	-	3	254	c.255G>C	c.(253-255)gtG>gtC	p.V85V	WIPI1_ENST00000589459.1_5'UTR|WIPI1_ENST00000546360.1_Silent_p.V3V	NM_017983.5	NP_060453.3	Q5MNZ9	WIPI1_HUMAN	WD repeat domain, phosphoinositide interacting 1	85					macroautophagy|vesicle targeting, trans-Golgi to endosome	autophagic vacuole membrane|clathrin-coated vesicle|cytosol|endosome membrane|PAS complex|pre-autophagosomal structure membrane|trans-Golgi network	androgen receptor binding|estrogen receptor binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	18						TGAAGTGATACACGTTCATCT	0.512													62	84					0	0	1	0	0	G	66446947	C	G	66446947	2	3	164	1	0	0	0	0	0	0	0	1	17430	465	17	5		5	WIPI1	17	66446947	Silent	SNP	C	TCGA-E1-A7YE-01A-11D-A34A-08	4886455	66446947	14748263	64	23360											
ANAPC11	51529	broad.mit.edu	37	17	79857259	79857259	+	Missense_Mutation	SNP	C	C	G			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr17:79857259C>G	ENST00000357385.3	+	3	387	c.251C>G	c.(250-252)tCt>tGt	p.S84C	ANAPC11_ENST00000578550.1_Intron|ANAPC11_ENST00000571024.2_Intron|ANAPC11_ENST00000574924.2_Intron|ANAPC11_ENST00000578544.1_Intron|ANAPC11_ENST00000571570.1_Intron|ANAPC11_ENST00000577747.1_Intron|ANAPC11_ENST00000583839.1_Intron|ANAPC11_ENST00000572851.2_Intron|ANAPC11_ENST00000344877.5_Intron|ANAPC11_ENST00000572639.1_Intron|ANAPC11_ENST00000575195.2_Intron|ANAPC11_ENST00000579978.1_Intron|ANAPC11_ENST00000579133.1_Intron|ANAPC11_ENST00000392376.3_Intron|ANAPC11_ENST00000577425.1_Intron|ANAPC11_ENST00000571874.2_Intron	NM_001002244.1	NP_001002244.1	Q9NYG5	APC11_HUMAN	anaphase promoting complex subunit 11	0					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	zinc ion binding			kidney(1)|lung(1)	2	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			TCCCTGATGTCTAGGGAAGAG	0.607													14	21					0	0	1	0	0	G	79857259	C	G	79857259	3	3	164	1	0	0	0	0	1	0	0	0	596	913	32	4	257	4	ANAPC11	17	79857259	Missense_Mutation	SNP	C	TCGA-E1-A7YE-01A-11D-A34A-08	13410312	79857259	1337951	65	23361											
GALNT1	2589	broad.mit.edu	37	18	33283583	33283583	+	Missense_Mutation	SNP	C	C	G			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr18:33283583C>G	ENST00000269195.5	+	10	1612	c.1509C>G	c.(1507-1509)aaC>aaG	p.N503K	GALNT1_ENST00000537549.1_Missense_Mutation_p.N443K	NM_020474.3	NP_065207.2	Q10472	GALT1_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 1 (GalNAc-T1)	503	Ricin B-type lectin.				protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	extracellular region|Golgi cisterna membrane|integral to membrane|perinuclear region of cytoplasm	manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.N503N(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(4)|stomach(1)	21						TAAAAGGCAACCAACTCTGGG	0.373													37	66					0	0	1	0	0	G	33283583	C	G	33283583	3	3	164	1	0	0	0	0	1	0	0	0	6247	506	18	5	1547	5	GALNT1	18	33283583	Missense_Mutation	SNP	C	TCGA-E1-A7YE-01A-11D-A34A-08		33283583	44793665	66	23362	116	2									
GALNT1	2589	broad.mit.edu	37	18	33283593	33283593	+	Nonsense_Mutation	SNP	G	G	T			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr18:33283593G>T	ENST00000269195.5	+	10	1622	c.1519G>T	c.(1519-1521)Gag>Tag	p.E507*	GALNT1_ENST00000537549.1_Nonsense_Mutation_p.E447*	NM_020474.3	NP_065207.2	Q10472	GALT1_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 1 (GalNAc-T1)	507	Ricin B-type lectin.				protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	extracellular region|Golgi cisterna membrane|integral to membrane|perinuclear region of cytoplasm	manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(4)|stomach(1)	21						CCAACTCTGGGAGTATGACCC	0.368													36	62					5.71845e-15	5.94719e-15	1	1	0	T	33283593	G	T	33283593	4	4	164	1	0	0	0	0	0	1	0	0	6247	1175	41	5	1557	5	GALNT1	18	33283593	Nonsense_Mutation	SNP	G	TCGA-E1-A7YE-01A-11D-A34A-08	10	33283593	44793655	67	23363	116	2									
KCNG2	26251	broad.mit.edu	37	18	77624229	77624229	+	Missense_Mutation	SNP	G	G	C			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr18:77624229G>C	ENST00000316249.3	+	1	562	c.562G>C	c.(562-564)Gcc>Ccc	p.A188P		NM_012283.1	NP_036415.1	Q9UJ96	KCNG2_HUMAN	potassium voltage-gated channel, subfamily G, member 2	188					energy reserve metabolic process|regulation of heart contraction|regulation of insulin secretion	voltage-gated potassium channel complex	delayed rectifier potassium channel activity			breast(2)|endometrium(4)|lung(7)|skin(1)|upper_aerodigestive_tract(4)	18		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244)		GTCCTTCGTGGCCGTCACGGC	0.771													7	14					0	0	1	0	0	C	77624229	G	C	77624229	3	2	164	1	0	0	0	0	1	0	0	0	8072	1203	42	5	564	5	KCNG2	18	77624229	Missense_Mutation	SNP	G	TCGA-E1-A7YE-01A-11D-A34A-08	44340636	77624229	453019	68	23364											
MUC16	94025	broad.mit.edu	37	19	9067115	9067115	+	Missense_Mutation	SNP	C	C	G			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr19:9067115C>G	ENST00000397910.4	-	3	20534	c.20331G>C	c.(20329-20331)atG>atC	p.M6777I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6779	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGACAGTGGTCATTTCTGAGT	0.493													81	102					0	0	1	0	0	G	9067115	C	G	9067115	3	3	164	1	0	0	0	0	1	0	0	0	10021	826	29	5	23520	5	MUC16	19	9067115	Missense_Mutation	SNP	C	TCGA-E1-A7YE-01A-11D-A34A-08		9067115	50061868	69	23365											
ILF3	3609	broad.mit.edu	37	19	10795094	10795094	+	Missense_Mutation	SNP	G	G	C			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr19:10795094G>C	ENST00000407004.3	+	18	2324	c.2074G>C	c.(2074-2076)Gac>Cac	p.D692H	ILF3_ENST00000449870.1_Intron|ILF3_ENST00000588657.1_Intron|ILF3_ENST00000318511.3_Intron|ILF3_ENST00000592763.1_3'UTR|ILF3_ENST00000589998.1_Missense_Mutation_p.D688H|ILF3_ENST00000420083.1_Intron|ILF3_ENST00000590261.1_Intron|ILF3_ENST00000250241.8_Intron	NM_001137673.1	NP_001131145.1	Q12906	ILF3_HUMAN	interleukin enhancer binding factor 3, 90kDa	688	Interaction with PRMT1.				M phase|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleolus|ribonucleoprotein complex	DNA binding|double-stranded RNA binding|protein binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31			Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)			TTTTGTAGGTGACTTTTTCAC	0.388													48	92					0	0	1	0	0	C	10795094	G	C	10795094	3	2	164	1	0	0	0	0	1	0	0	0	7756	1290	45	5	2140	5	ILF3	19	10795094	Missense_Mutation	SNP	G	TCGA-E1-A7YE-01A-11D-A34A-08	1727979	10795094	48333889	70	23366											
EMR2	30817	broad.mit.edu	37	19	14866522	14866522	+	Missense_Mutation	SNP	T	T	C			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr19:14866522T>C	ENST00000315576.3	-	13	1811	c.1360A>G	c.(1360-1362)Agc>Ggc	p.S454G	EMR2_ENST00000596991.2_Missense_Mutation_p.S443G|EMR2_ENST00000601345.1_Missense_Mutation_p.S443G|EMR2_ENST00000353876.1_Missense_Mutation_p.S361G|EMR2_ENST00000594076.1_Missense_Mutation_p.S361G|EMR2_ENST00000392964.3_Intron|EMR2_ENST00000392967.2_Missense_Mutation_p.S443G|EMR2_ENST00000594294.1_Missense_Mutation_p.S405G|EMR2_ENST00000353005.1_Missense_Mutation_p.S312G|EMR2_ENST00000346057.1_Missense_Mutation_p.S405G|EMR2_ENST00000392965.3_Missense_Mutation_p.S454G|EMR2_ENST00000595839.1_Missense_Mutation_p.S312G	NM_013447.3	NP_038475.2	Q9UHX3	EMR2_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 2	454					cell adhesion|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	48						TCGTTGTTGCTCAGAAAGGCA	0.557													55	78					0	0	1	0	0	C	14866522	T	C	14866522	3	2	164	1	0	0	0	0	1	0	0	0	5133	1551	54	3	1147	3	EMR2	19	14866522	Missense_Mutation	SNP	T	TCGA-E1-A7YE-01A-11D-A34A-08	4071428	14866522	44262461	71	23367											
AKAP8	10270	broad.mit.edu	37	19	15483080	15483080	+	Missense_Mutation	SNP	G	G	C			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr19:15483080G>C	ENST00000269701.2	-	6	1000	c.940C>G	c.(940-942)Cca>Gca	p.P314A		NM_005858.3	NP_005849.1	O43823	AKAP8_HUMAN	A kinase (PRKA) anchor protein 8	314					signal transduction	nuclear matrix				breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)	26						TTGGTGTCTGGCTCCTCGTAA	0.572													21	22					0	0	1	0	0	C	15483080	G	C	15483080	3	2	164	1	0	0	0	0	1	0	0	0	454	1203	42	5	1174	5	AKAP8	19	15483080	Missense_Mutation	SNP	G	TCGA-E1-A7YE-01A-11D-A34A-08	616558	15483080	43645903	72	23368											
RGS19	10287	broad.mit.edu	37	20	62705641	62705641	+	Silent	SNP	C	C	T	rs140669717		TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr20:62705641C>T	ENST00000395042.1	-	5	584	c.318G>A	c.(316-318)gcG>gcA	p.A106A	RGS19_ENST00000332298.5_Silent_p.A106A	NM_005873.2	NP_005864.1	P49795	RGS19_HUMAN	regulator of G-protein signaling 19	106	RGS.				autophagy|G-protein coupled receptor protein signaling pathway|negative regulation of signal transduction|small GTPase mediated signal transduction	Golgi apparatus|membrane fraction|plasma membrane	GTPase activator activity|protein binding|signal transducer activity			lung(1)|prostate(1)|skin(1)	3	all_cancers(38;3.45e-11)|all_epithelial(29;9.12e-13)|Lung NSC(23;2e-09)|all_lung(23;6.77e-09)					TCCGCAGGAACGCCCGGAACA	0.622													4	34					0	0	1	0	0	T	62705641	C	T	62705641	2	4	164	1	0	0	0	0	0	0	0	1	13351	523	19	1		1	RGS19	20	62705641	Silent	SNP	C	TCGA-E1-A7YE-01A-11D-A34A-08		62705641	319879	73	23369											
RTDR1	27156	broad.mit.edu	37	22	23401887	23401887	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr22:23401887G>A	ENST00000216036.4	-	7	996	c.800C>T	c.(799-801)gCg>gTg	p.A267V		NM_014433.2	NP_055248.1	Q9UHP6	RTDR1_HUMAN	rhabdoid tumor deletion region gene 1	267							binding	p.A267V(1)		breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	18	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.175)		CTCCAGGGCCGCATACTTCCC	0.632													4	96					0	0	1	0	0	A	23401887	G	A	23401887	3	1	164	1	0	0	0	0	1	0	0	0	13771	1087	38	1	250	1	RTDR1	22	23401887	Missense_Mutation	SNP	G	TCGA-E1-A7YE-01A-11D-A34A-08		23401887	27902679	74	23370											
CRELD2	79174	broad.mit.edu	37	22	50320925	50320925	+	Silent	SNP	G	G	A	rs143871729		TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr22:50320925G>A	ENST00000404488.3	+	11	1314	c.1179G>A	c.(1177-1179)ccG>ccA	p.P393P	CRELD2_ENST00000407217.3_Silent_p.P312P|CRELD2_ENST00000328268.4_Silent_p.P344P|CRELD2_ENST00000403427.3_Silent_p.P316P	NM_001135101.1	NP_001128573.1	Q6UXH1	CREL2_HUMAN	cysteine-rich with EGF-like domains 2	344						endoplasmic reticulum|extracellular region	calcium ion binding			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|stomach(3)	9		all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236)		BRCA - Breast invasive adenocarcinoma(115;0.198)|LUAD - Lung adenocarcinoma(64;0.247)		GAGAAAGCCCGACACAGCTGC	0.552													15	71					0	0	1	0	0	A	50320925	G	A	50320925	2	1	164	1	0	0	0	0	0	0	0	1	3890	1045	37	1		1	CRELD2	22	50320925	Silent	SNP	G	TCGA-E1-A7YE-01A-11D-A34A-08	26919038	50320925	983641	75	23371											
MXRA5	25878	broad.mit.edu	37	X	3248147	3248147	+	Silent	SNP	C	C	T			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chrX:3248147C>T	ENST00000217939.6	-	4	775	c.621G>A	c.(619-621)ccG>ccA	p.P207P		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	207						extracellular region		p.P207P(2)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				TCTCCAGAAGCGGCATGTTCC	0.453													6	16					0	0	1	0	0	T	3248147	C	T	3248147	2	4	164	1	0	0	0	0	0	0	0	1	10051	755	27	1		1	MXRA5	23	3248147	Silent	SNP	C	TCGA-E1-A7YE-01A-11D-A34A-08		3248147	152022413	76	23372											
RGN	9104	broad.mit.edu	37	X	46949264	46949264	+	Missense_Mutation	SNP	T	T	C			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chrX:46949264T>C	ENST00000397180.1	+	5	1405	c.436T>C	c.(436-438)Tac>Cac	p.Y146H	RGN_ENST00000457380.1_Intron|RGN_ENST00000352078.4_Missense_Mutation_p.Y146H|RGN_ENST00000336169.3_Missense_Mutation_p.Y146H	NM_152869.2	NP_690608.1	Q15493	RGN_HUMAN	regucalcin	146					cellular calcium ion homeostasis|positive regulation of ATPase activity|regulation of calcium-mediated signaling	cytoplasm|nucleus	calcium ion binding|enzyme regulator activity|gluconolactonase activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(2)|skin(1)|urinary_tract(1)	9						CGTGAAAAAGTACTTTGACCA	0.498													14	85					0	0	1	0	0	C	46949264	T	C	46949264	3	2	164	1	0	0	0	0	1	0	0	0	13334	1638	57	3	446	3	RGN	23	46949264	Missense_Mutation	SNP	T	TCGA-E1-A7YE-01A-11D-A34A-08	43701117	46949264	108321296	77	23373											
MED12	9968	broad.mit.edu	37	X	70339254	70339254	+	Missense_Mutation	SNP	G	G	C			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chrX:70339254G>C	ENST00000333646.6	+	2	330	c.131G>C	c.(130-132)gGt>gCt	p.G44A	MED12_ENST00000374102.1_Missense_Mutation_p.G44A|MED12_ENST00000374080.3_Missense_Mutation_p.G44A	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN	mediator complex subunit 12	44					androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	p.G44D(105)|p.G44V(28)|p.G44A(17)|p.?(5)|p.K42_N46del(3)|p.L39_N47del(2)|p.V41_P49del(2)|p.K42_F45del(2)|p.E35_N46del(2)|p.Q43_N46>H(1)|p.V41_D54del(1)|p.A38_N46del(1)|p.V41_S52del(1)|p.L39_V51del(1)|p.N40_P49>F(1)|p.K42_V51del(1)|p.Q43_Q48del(1)|p.A38_S52del(1)|p.N40_G44del(1)|p.V41_N46del(1)|p.K42_G44>N(1)|p.Q43_G44>H(1)|p.G44_Q48del(1)		breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					GTAAAACAAGGTTTCAATAAC	0.527			"M, S"		uterine leiomyoma		Opitz-Kaveggia Syndrome						6	13					0	0	1	0	0	C	70339254	G	C	70339254	3	2	164	1	0	0	0	0	1	0	0	0	9478	1261	44	5	137	5	MED12	23	70339254	Missense_Mutation	SNP	G	TCGA-E1-A7YE-01A-11D-A34A-08	23389990	70339254	84931306	78	23374											
ATRX	546	broad.mit.edu	37	X	76813056	76813056	+	Missense_Mutation	SNP	C	C	G			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chrX:76813056C>G	ENST00000373344.5	-	30	6779	c.6565G>C	c.(6565-6567)Gtt>Ctt	p.V2189L	ATRX_ENST00000395603.3_Missense_Mutation_p.V2151L|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	2189	Helicase C-terminal.				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)	TGATCAACAACTCGAAAAGAC	0.343			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						76	95					0	0	1	0	0	G	76813056	C	G	76813056	3	3	164	1	0	0	0	0	1	0	0	0	1206	565	20	4	937	4	ATRX	23	76813056	Missense_Mutation	SNP	C	TCGA-E1-A7YE-01A-11D-A34A-08	6473802	76813056	78457504	79	23375											
GPRASP1	9737	broad.mit.edu	37	X	101912628	101912628	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chrX:101912628C>T	ENST00000537097.1	+	6	4600	c.3787C>T	c.(3787-3789)Cat>Tat	p.H1263Y	GPRASP1_ENST00000361600.5_Missense_Mutation_p.H1263Y|RP4-769N13.7_ENST00000602441.1_RNA|GPRASP1_ENST00000415986.1_Missense_Mutation_p.H1263Y|GPRASP1_ENST00000444152.1_Missense_Mutation_p.H1263Y	NM_001184727.1	NP_001171656.1	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting protein 1	1263	OPRD1-binding.					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						GATGATTAGACATCTCACTAC	0.403													52	73					0	0	1	0	0	T	101912628	C	T	101912628	3	4	164	1	0	0	0	0	1	0	0	0	6763	478	17	2	3789	2	GPRASP1	23	101912628	Missense_Mutation	SNP	C	TCGA-E1-A7YE-01A-11D-A34A-08	25099572	101912628	53357932	80	23376											
MAP7D3	79649	broad.mit.edu	37	X	135310868	135310868	+	Silent	SNP	T	T	C			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chrX:135310868T>C	ENST00000316077.9	-	11	2020	c.1800A>G	c.(1798-1800)acA>acG	p.T600T	MAP7D3_ENST00000370661.1_Silent_p.T565T|MAP7D3_ENST00000495432.1_5'UTR|MAP7D3_ENST00000370663.5_Silent_p.T582T	NM_024597.3	NP_078873.2	Q8IWC1	MA7D3_HUMAN	MAP7 domain containing 3	600						cytoplasm|spindle				central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1)	44	Acute lymphoblastic leukemia(192;0.000127)					TCAAAATTTTTGTTGCCGCCT	0.408													30	108					0	0	1	0	0	C	135310868	T	C	135310868	2	2	164	1	0	0	0	0	0	0	0	1	9319	1799	63	3		3	MAP7D3	23	135310868	Silent	SNP	T	TCGA-E1-A7YE-01A-11D-A34A-08	33398240	135310868	19959692	81	23377											
GPR112	139378	broad.mit.edu	37	X	135405259	135405259	+	Silent	SNP	C	C	A			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chrX:135405259C>A	ENST00000394143.1	+	5	684	c.393C>A	c.(391-393)ggC>ggA	p.G131G	GPR112_ENST00000412101.1_Intron|GPR112_ENST00000394141.1_Intron|GPR112_ENST00000370652.1_Silent_p.G131G|GPR112_ENST00000287534.4_Silent_p.G68G	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	131					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					GTGTGAAGGGCAAATTAGAAC	0.428													49	80					2.24722e-20	2.36072e-20	1	1	0	A	135405259	C	A	135405259	2	1	164	1	0	0	0	0	0	0	0	1	6669	697	25	5		5	GPR112	23	135405259	Silent	SNP	C	TCGA-E1-A7YE-01A-11D-A34A-08	94391	135405259	19865301	82	23378											
GPR112	139378	broad.mit.edu	37	X	135485410	135485410	+	Silent	SNP	G	G	A			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chrX:135485410G>A	ENST00000394143.1	+	22	8874	c.8583G>A	c.(8581-8583)ccG>ccA	p.P2861P	GPR112_ENST00000412101.1_Silent_p.P2656P|GPR112_ENST00000394141.1_Silent_p.P2656P|GPR112_ENST00000370652.1_Silent_p.P2861P|GPR112_ENST00000287534.4_Silent_p.P2614P	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	2861					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					CAGGAATCCCGGCTATCATGG	0.458													21	29					0	0	1	0	0	A	135485410	G	A	135485410	2	1	164	1	0	0	0	0	0	0	0	1	6669	1103	39	1		1	GPR112	23	135485410	Silent	SNP	G	TCGA-E1-A7YE-01A-11D-A34A-08	80151	135485410	19785150	83	23379											
HTATSF1	27336	broad.mit.edu	37	X	135591290	135591290	+	Missense_Mutation	SNP	G	G	C			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chrX:135591290G>C	ENST00000535601.1	+	8	1297	c.875G>C	c.(874-876)cGa>cCa	p.R292P	HTATSF1_ENST00000218364.4_Missense_Mutation_p.R292P	NM_001163280.1	NP_001156752.1	O43719	HTSF1_HUMAN	HIV-1 Tat specific factor 1	292	RRM 2.				regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|viral genome replication	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(3)|prostate(1)	30	Acute lymphoblastic leukemia(192;0.000127)					GAAGACCTTCGAGTAGAGTGT	0.388													13	104					0	0	1	0	0	C	135591290	G	C	135591290	3	2	164	1	0	0	0	0	1	0	0	0	7477	1058	37	5	901	5	HTATSF1	23	135591290	Missense_Mutation	SNP	G	TCGA-E1-A7YE-01A-11D-A34A-08	105880	135591290	19679270	84	23380											
PNMA3	29944	broad.mit.edu	37	X	152225469	152225469	+	Missense_Mutation	SNP	G	G	T			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chrX:152225469G>T	ENST00000447306.1	+	2	393	c.57G>T	c.(55-57)agG>agT	p.R19S	PNMA3_ENST00000370264.4_Missense_Mutation_p.R19S|PNMA3_ENST00000370265.4_Missense_Mutation_p.R19S	NM_013364.4	NP_037496.4	Q9UL41	PNMA3_HUMAN	paraneoplastic Ma antigen 3	19					apoptosis	nucleolus	nucleic acid binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	16	Acute lymphoblastic leukemia(192;6.56e-05)					acacccggaggtgcatgctca	0.577													38	61					3.3946e-10	3.49543e-10	1	1	0	T	152225469	G	T	152225469	3	4	164	1	0	0	0	0	1	0	0	0	12203	1252	44	5	59	5	PNMA3	23	152225469	Missense_Mutation	SNP	G	TCGA-E1-A7YE-01A-11D-A34A-08	16634179	152225469	3045091	85	23381											
F8	2157	broad.mit.edu	37	X	154091433	154091433	+	Missense_Mutation	SNP	A	A	C			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chrX:154091433A>C	ENST00000360256.4	-	23	6699	c.6499T>G	c.(6499-6501)Tac>Gac	p.Y2167D	F8_ENST00000330287.6_Missense_Mutation_p.Y32D	NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	2167	F5/8 type C 1.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	AAACGGATGTATCGAGCAATA	0.408													31	59					0	0	1	0	0	C	154091433	A	C	154091433	3	2	164	1	0	0	0	0	1	0	0	0	5378	449	16	4	572	4	F8	23	154091433	Missense_Mutation	SNP	A	TCGA-E1-A7YE-01A-11D-A34A-08	1865964	154091433	1179127	86	23382											
HTR1D	3352	broad.mit.edu	37	1	23520183	23520183	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YH-01A-11D-A34A-08	TCGA-E1-A7YH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7bd016e-062a-49f1-8294-8fcb32b15cb0	22ba3a91-d5b4-4dde-a2cf-84830a225008	g.chr1:23520183C>T	ENST00000374619.1	-	1	1039	c.530G>A	c.(529-531)cGg>cAg	p.R177Q	HTR1D_ENST00000314113.3_Missense_Mutation_p.R177Q	NM_000864.4	NP_000855.1	P28221	5HT1D_HUMAN	5-hydroxytryptamine (serotonin) receptor 1D, G protein-coupled	177					G-protein signaling, coupled to cyclic nucleotide second messenger|intestine smooth muscle contraction|synaptic transmission	integral to plasma membrane	serotonin receptor activity	p.R177Q(1)		NS(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000779)|all_lung(284;0.00135)|Breast(348;0.0385)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0561)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;4.69e-27)|Colorectal(126;4.86e-08)|COAD - Colon adenocarcinoma(152;2.86e-06)|GBM - Glioblastoma multiforme(114;0.00012)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(1967;0.00122)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.083)|LUSC - Lung squamous cell carcinoma(448;0.185)	Almotriptan(DB00918)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Tegaserod(DB01079)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	CTTGGCCTGCCGCCAGAAGAG	0.597													17	32					0	0	1	0	0	T	23520183	C	T	23520183	3	4	165	1	0	0	0	0	1	0	0	0	7482	652	23	1	607	1	HTR1D	1	23520183	Missense_Mutation	SNP	C	TCGA-E1-A7YH-01A-11D-A34A-08		23520183	225730438	1	23383											
MACF1	23499	broad.mit.edu	37	1	39823120	39823120	+	Missense_Mutation	SNP	A	A	T			TCGA-E1-A7YH-01A-11D-A34A-08	TCGA-E1-A7YH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7bd016e-062a-49f1-8294-8fcb32b15cb0	22ba3a91-d5b4-4dde-a2cf-84830a225008	g.chr1:39823120A>T	ENST00000564288.1	+	45	12275	c.11498A>T	c.(11497-11499)gAt>gTt	p.D3833V	MACF1_ENST00000539005.1_Missense_Mutation_p.D1771V|MACF1_ENST00000567887.1_Missense_Mutation_p.D3870V|MACF1_ENST00000361689.2_Missense_Mutation_p.D1771V|MACF1_ENST00000476350.1_3'UTR|MACF1_ENST00000545844.1_Missense_Mutation_p.D1771V|MACF1_ENST00000372915.3_Missense_Mutation_p.D3838V|MACF1_ENST00000317713.7_Missense_Mutation_p.D1771V|MACF1_ENST00000289893.4_Missense_Mutation_p.D2273V			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	3838					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GCCTTCTTGGATCAGCATGGC	0.502													4	52					0	0	1	0	0	T	39823120	A	T	39823120	3	4	165	1	0	0	0	0	1	0	0	0	9190	333	12	4	11621	4	MACF1	1	39823120	Missense_Mutation	SNP	A	TCGA-E1-A7YH-01A-11D-A34A-08	16302937	39823120	209427501	2	23384											
SLC27A3	11000	broad.mit.edu	37	1	153748614	153748615	+	Frame_Shift_Del	DEL	GC	GC	-			TCGA-E1-A7YH-01A-11D-A34A-08	TCGA-E1-A7YH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7bd016e-062a-49f1-8294-8fcb32b15cb0	22ba3a91-d5b4-4dde-a2cf-84830a225008	g.chr1:153748614_153748615delGC	ENST00000271857.2	+	1	1785_1786	c.1025_1026delGC	c.(1024-1026)ggcfs	p.G342fs	SLC27A3_ENST00000484014.1_3'UTR|SLC27A3_ENST00000368661.3_Frame_Shift_Del_p.G261fs			Q5K4L6	S27A3_HUMAN	solute carrier family 27 (fatty acid transporter), member 3	261					fatty acid metabolic process	integral to membrane|mitochondrial membrane	ligase activity|nucleotide binding			NS(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	14	all_lung(78;6.47e-32)|Lung NSC(65;2.52e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CGCAGCTGCGGCGCGCGCGCGC	0.718													2	4	---	---	---	---						-	153748615	GC	-	153748614	7	5	165	1	0	1	0	1	0	0	0	0	14582	1203	42	0	784	0	SLC27A3	1	153748614	Frame_Shift_Del	DEL	GC	TCGA-E1-A7YH-01A-11D-A34A-08	113925494	153748614	95502007	3	23385											
COX5B	1329	broad.mit.edu	37	2	98264496	98264496	+	Silent	SNP	G	G	A			TCGA-E1-A7YH-01A-11D-A34A-08	TCGA-E1-A7YH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7bd016e-062a-49f1-8294-8fcb32b15cb0	22ba3a91-d5b4-4dde-a2cf-84830a225008	g.chr2:98264496G>A	ENST00000258424.2	+	4	362	c.315G>A	c.(313-315)ctG>ctA	p.L105L	COX5B_ENST00000464949.1_3'UTR	NM_001862.2	NP_001853.2	P10606	COX5B_HUMAN	cytochrome c oxidase subunit Vb	105					respiratory electron transport chain|respiratory gaseous exchange	mitochondrial inner membrane	cytochrome-c oxidase activity|metal ion binding			endometrium(1)|lung(1)|urinary_tract(1)	3						GGTTTTGGCTGCACAAAGGCG	0.507													4	29					0	0	1	0	0	A	98264496	G	A	98264496	2	1	165	1	0	0	0	0	0	0	0	1	3796	1306	46	2		2	COX5B	2	98264496	Silent	SNP	G	TCGA-E1-A7YH-01A-11D-A34A-08		98264496	144934877	4	23386											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-E1-A7YH-01A-11D-A34A-08	TCGA-E1-A7YH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7bd016e-062a-49f1-8294-8fcb32b15cb0	22ba3a91-d5b4-4dde-a2cf-84830a225008	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	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								24	47					0	0	1	0	0	T	209113112	C	T	209113112	3	4	165	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-E1-A7YH-01A-11D-A34A-08	110848616	209113112	34086261	5	23387											
ZFYVE20	64145	broad.mit.edu	37	3	15126301	15126301	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YH-01A-11D-A34A-08	TCGA-E1-A7YH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7bd016e-062a-49f1-8294-8fcb32b15cb0	22ba3a91-d5b4-4dde-a2cf-84830a225008	g.chr3:15126301C>T	ENST00000253699.3	-	8	1152	c.539G>A	c.(538-540)cGc>cAc	p.R180H	ZFYVE20_ENST00000449964.2_5'UTR|ZFYVE20_ENST00000435849.3_Missense_Mutation_p.R180H|ZFYVE20_ENST00000476527.2_Missense_Mutation_p.R180H	NM_022340.2	NP_071735.2	Q9H1K0	RBNS5_HUMAN	zinc finger, FYVE domain containing 20	180	Necessary for the correct targeting to endosomes.				blood coagulation|endosome transport|protein transport	early endosome membrane|plasma membrane	protein binding|zinc ion binding			NS(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|skin(3)|stomach(1)|urinary_tract(2)	26						CCCGCAGAGGCGGCAGTGGTG	0.547													4	67					0	0	1	0	0	T	15126301	C	T	15126301	3	4	165	1	0	0	0	0	1	0	0	0	17724	768	27	1	1843	1	ZFYVE20	3	15126301	Missense_Mutation	SNP	C	TCGA-E1-A7YH-01A-11D-A34A-08		15126301	182896129	6	23388											
GNAT1	2779	broad.mit.edu	37	3	50230983	50230983	+	Silent	SNP	G	G	A			TCGA-E1-A7YH-01A-11D-A34A-08	TCGA-E1-A7YH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7bd016e-062a-49f1-8294-8fcb32b15cb0	22ba3a91-d5b4-4dde-a2cf-84830a225008	g.chr3:50230983G>A	ENST00000232461.3	+	4	450	c.336G>A	c.(334-336)gaG>gaA	p.E112E	GNAT1_ENST00000433068.1_Silent_p.E112E	NM_144499.2	NP_653082.1	P11488	GNAT1_HUMAN	guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 1	112					detection of chemical stimulus involved in sensory perception of bitter taste|G-protein signaling, coupled to cAMP nucleotide second messenger|negative regulation of cyclic-nucleotide phosphodiesterase activity|rhodopsin mediated phototransduction|sensory perception of umami taste	heterotrimeric G-protein complex|photoreceptor inner segment|photoreceptor outer segment membrane	acyl binding|G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GDP binding|GTP binding|GTPase activity|protein kinase binding|signal transducer activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		CTATCGAGGAGGGCACGATGC	0.652													12	29					0	0	1	0	0	A	50230983	G	A	50230983	2	1	165	1	0	0	0	0	0	0	0	1	6553	991	35	2		2	GNAT1	3	50230983	Silent	SNP	G	TCGA-E1-A7YH-01A-11D-A34A-08	35104682	50230983	147791447	7	23389											
TMEM45A	55076	broad.mit.edu	37	3	100274191	100274191	+	Missense_Mutation	SNP	T	T	G			TCGA-E1-A7YH-01A-11D-A34A-08	TCGA-E1-A7YH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7bd016e-062a-49f1-8294-8fcb32b15cb0	22ba3a91-d5b4-4dde-a2cf-84830a225008	g.chr3:100274191T>G	ENST00000403410.1	+	4	804	c.184T>G	c.(184-186)Ttc>Gtc	p.F62V	TMEM45A_ENST00000323523.4_Missense_Mutation_p.F46V|TMEM45A_ENST00000462884.1_3'UTR			Q9NWC5	TM45A_HUMAN	transmembrane protein 45A	46						integral to membrane				breast(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)	11						CAAAACATTATTCTATCGATT	0.353													3	99					0	0	1	0	0	G	100274191	T	G	100274191	3	3	165	1	0	0	0	0	1	0	0	0	16229	1493	52	4	138	4	TMEM45A	3	100274191	Missense_Mutation	SNP	T	TCGA-E1-A7YH-01A-11D-A34A-08	50043208	100274191	97748239	8	23390											
UGT8	7368	broad.mit.edu	37	4	115544143	115544143	+	Missense_Mutation	SNP	A	A	G			TCGA-E1-A7YH-01A-11D-A34A-08	TCGA-E1-A7YH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7bd016e-062a-49f1-8294-8fcb32b15cb0	22ba3a91-d5b4-4dde-a2cf-84830a225008	g.chr4:115544143A>G	ENST00000310836.6	+	2	629	c.107A>G	c.(106-108)tAc>tGc	p.Y36C	UGT8_ENST00000394511.3_Missense_Mutation_p.Y36C	NM_001128174.1	NP_001121646	Q16880	CGT_HUMAN	UDP glycosyltransferase 8	36					central nervous system development|peripheral nervous system development	integral to membrane	2-hydroxyacylsphingosine 1-beta-galactosyltransferase activity|UDP-galactose:glucosylceramide beta-1,4-galactosyltransferase activity			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000632)		AGCCATATGTACATTTTCAAG	0.478													16	30					0	0	1	0	0	G	115544143	A	G	115544143	3	3	165	1	0	0	0	0	1	0	0	0	17025	391	14	3	109	3	UGT8	4	115544143	Missense_Mutation	SNP	A	TCGA-E1-A7YH-01A-11D-A34A-08		115544143	75610133	9	23391											
RNF216	54476	broad.mit.edu	37	7	5781284	5781284	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YH-01A-11D-A34A-08	TCGA-E1-A7YH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7bd016e-062a-49f1-8294-8fcb32b15cb0	22ba3a91-d5b4-4dde-a2cf-84830a225008	g.chr7:5781284C>T	ENST00000389902.3	-	4	631	c.364G>A	c.(364-366)Ggg>Agg	p.G122R	RNF216_ENST00000425013.2_Intron			Q9NWF9	RN216_HUMAN	ring finger protein 216	65					apoptosis|interspecies interaction between organisms|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination|regulation of defense response to virus by host|regulation of interferon-beta production	cytoplasm|nucleus	ligase activity|protein binding|zinc ion binding		FBXL18/RNF216(2)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|urinary_tract(4)	33		Ovarian(82;0.07)		UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13)		TCCTGTGCCCCAGAATCAAAC	0.433													4	169					0	0	1	0	0	T	5781284	C	T	5781284	3	4	165	1	0	0	0	0	1	0	0	0	13532	594	21	2	2463	2	RNF216	7	5781284	Missense_Mutation	SNP	C	TCGA-E1-A7YH-01A-11D-A34A-08		5781284	153357379	10	23392											
ZSCAN21	7589	broad.mit.edu	37	7	99661835	99661835	+	Missense_Mutation	SNP	A	A	G			TCGA-E1-A7YH-01A-11D-A34A-08	TCGA-E1-A7YH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7bd016e-062a-49f1-8294-8fcb32b15cb0	22ba3a91-d5b4-4dde-a2cf-84830a225008	g.chr7:99661835A>G	ENST00000543588.1	+	6	1158	c.914A>G	c.(913-915)aAg>aGg	p.K305R	ZSCAN21_ENST00000292450.4_Silent_p.K339K|ZSCAN21_ENST00000456748.2_Missense_Mutation_p.K305R|ZSCAN21_ENST00000477297.1_3'UTR|ZNF3_ENST00000413658.2_3'UTR			Q9Y5A6	ZSC21_HUMAN	zinc finger and SCAN domain containing 21	0					positive regulation of transcription, DNA-dependent|viral reproduction	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|skin(1)	21	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			AGTGTGGAAAAGCTTTTGGGC	0.502													29	48					0	0	1	0	0	G	99661835	A	G	99661835	3	3	165	1	0	0	0	0	1	0	0	0	18274	69	3	3	1027	3	ZSCAN21	7	99661835	Missense_Mutation	SNP	A	TCGA-E1-A7YH-01A-11D-A34A-08	93880551	99661835	59476828	11	23393											
ASZ1	136991	broad.mit.edu	37	7	117003694	117003694	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YH-01A-11D-A34A-08	TCGA-E1-A7YH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7bd016e-062a-49f1-8294-8fcb32b15cb0	22ba3a91-d5b4-4dde-a2cf-84830a225008	g.chr7:117003694C>T	ENST00000284629.2	-	13	1446	c.1384G>A	c.(1384-1386)Ggt>Agt	p.G462S		NM_130768.2	NP_570124.1	Q8WWH4	ASZ1_HUMAN	ankyrin repeat, SAM and basic leucine zipper domain containing 1	462					cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	signal transducer activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(3)|skin(1)	24	Lung NSC(10;0.00156)|all_lung(10;0.00175)		STAD - Stomach adenocarcinoma(10;0.000512)			AGAAGAAAACCGAATCCGCAT	0.318													32	74					0	0	1	0	0	T	117003694	C	T	117003694	3	4	165	1	0	0	0	0	1	0	0	0	1068	652	23	1	47	1	ASZ1	7	117003694	Missense_Mutation	SNP	C	TCGA-E1-A7YH-01A-11D-A34A-08	17341859	117003694	42134969	12	23394											
MEST	4232	broad.mit.edu	37	7	130138088	130138088	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YH-01A-11D-A34A-08	TCGA-E1-A7YH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7bd016e-062a-49f1-8294-8fcb32b15cb0	22ba3a91-d5b4-4dde-a2cf-84830a225008	g.chr7:130138088G>A	ENST00000223215.4	+	5	669	c.448G>A	c.(448-450)Gat>Aat	p.D150N	MEST_ENST00000416162.2_Missense_Mutation_p.D141N|hsa-mir-335_ENST00000604666.1_RNA|MEST_ENST00000393187.1_Missense_Mutation_p.D141N|MEST_ENST00000437945.1_Missense_Mutation_p.D150N|MEST_ENST00000341441.5_Missense_Mutation_p.D141N|MEST_ENST00000378576.4_Missense_Mutation_p.D141N|MEST_ENST00000462132.1_3'UTR	NM_001253900.1|NM_002402.3	NP_001240829.1|NP_002393.2	Q5EB52	MEST_HUMAN	mesoderm specific transcript	150					mesoderm development	endoplasmic reticulum membrane|integral to membrane	hydrolase activity|protein binding			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(2)	12	Melanoma(18;0.0435)					TGACTATGGAGATATTGTTGC	0.463													28	52					0	0	1	0	0	A	130138088	G	A	130138088	3	1	165	1	0	0	0	0	1	0	0	0	9534	942	33	2	466	2	MEST	7	130138088	Missense_Mutation	SNP	G	TCGA-E1-A7YH-01A-11D-A34A-08	13134394	130138088	29000575	13	23395											
CA8	767	broad.mit.edu	37	8	61121347	61121347	+	Silent	SNP	C	C	T			TCGA-E1-A7YH-01A-11D-A34A-08	TCGA-E1-A7YH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7bd016e-062a-49f1-8294-8fcb32b15cb0	22ba3a91-d5b4-4dde-a2cf-84830a225008	g.chr8:61121347C>T	ENST00000317995.4	-	8	1134	c.870G>A	c.(868-870)caG>caA	p.Q290Q		NM_004056.4	NP_004047.3	P35219	CAH8_HUMAN	carbonic anhydrase VIII	290					one-carbon metabolic process		carbonate dehydratase activity|zinc ion binding			endometrium(2)|large_intestine(5)|lung(6)|prostate(2)|skin(1)	16		all_cancers(86;0.172)|all_epithelial(80;0.0383)|all_lung(136;0.0413)|Lung NSC(129;0.0474)				TCTTTGGCTACTGAAATGCAG	0.468													22	60					0	0	1	0	0	T	61121347	C	T	61121347	2	4	165	1	0	0	0	0	0	0	0	1	2541	564	20	2		2	CA8	8	61121347	Silent	SNP	C	TCGA-E1-A7YH-01A-11D-A34A-08		61121347	85242675	14	23396											
OR13C3	138803	broad.mit.edu	37	9	107298302	107298302	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YH-01A-11D-A34A-08	TCGA-E1-A7YH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7bd016e-062a-49f1-8294-8fcb32b15cb0	22ba3a91-d5b4-4dde-a2cf-84830a225008	g.chr9:107298302G>A	ENST00000374781.2	-	1	835	c.793C>T	c.(793-795)Cgc>Tgc	p.R265C		NM_001001961.1	NP_001001961.1	Q8NGS6	O13C3_HUMAN	olfactory receptor, family 13, subfamily C, member 3	265					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(1)|skin(1)	19						AATGCCTTGCGTCTTCCTGTG	0.428													19	73					0	0	1	0	0	A	107298302	G	A	107298302	3	1	165	1	0	0	0	0	1	0	0	0	10983	1145	40	1	254	1	OR13C3	9	107298302	Missense_Mutation	SNP	G	TCGA-E1-A7YH-01A-11D-A34A-08		107298302	33915129	15	23397											
ABCA1	19	broad.mit.edu	37	9	107602687	107602687	+	Silent	SNP	G	G	A			TCGA-E1-A7YH-01A-11D-A34A-08	TCGA-E1-A7YH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7bd016e-062a-49f1-8294-8fcb32b15cb0	22ba3a91-d5b4-4dde-a2cf-84830a225008	g.chr9:107602687G>A	ENST00000374736.3	-	9	1321	c.927C>T	c.(925-927)tgC>tgT	p.C309C		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	309					Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	CGGGATGCCCGCAGACAATAC	0.532													3	45					0	0	1	0	0	A	107602687	G	A	107602687	2	1	165	1	0	0	0	0	0	0	0	1	28	1079	38	1		1	ABCA1	9	107602687	Silent	SNP	G	TCGA-E1-A7YH-01A-11D-A34A-08	304385	107602687	33610744	16	23398											
ARHGAP21	57584	broad.mit.edu	37	10	24909113	24909113	+	Nonsense_Mutation	SNP	G	G	A	rs139365604		TCGA-E1-A7YH-01A-11D-A34A-08	TCGA-E1-A7YH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7bd016e-062a-49f1-8294-8fcb32b15cb0	22ba3a91-d5b4-4dde-a2cf-84830a225008	g.chr10:24909113G>A	ENST00000396432.2	-	9	2197	c.1711C>T	c.(1711-1713)Cga>Tga	p.R571*	ARHGAP21_ENST00000320481.6_Nonsense_Mutation_p.R358*	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	570					signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						CCACTCATTCGCCTGTTATCA	0.393													7	167					0	0	1	0	0	A	24909113	G	A	24909113	4	1	165	1	0	0	0	0	0	1	0	0	868	1095	38	1	4237	1	ARHGAP21	10	24909113	Nonsense_Mutation	SNP	G	TCGA-E1-A7YH-01A-11D-A34A-08		24909113	110625634	17	23399											
TET1	80312	broad.mit.edu	37	10	70332828	70332828	+	Nonsense_Mutation	SNP	C	C	T			TCGA-E1-A7YH-01A-11D-A34A-08	TCGA-E1-A7YH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7bd016e-062a-49f1-8294-8fcb32b15cb0	22ba3a91-d5b4-4dde-a2cf-84830a225008	g.chr10:70332828C>T	ENST00000373644.4	+	2	942	c.733C>T	c.(733-735)Cag>Tag	p.Q245*		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	245					DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						AATGTTTGCTCAGGACACAGT	0.488													28	46					0	0	1	0	0	T	70332828	C	T	70332828	4	4	165	1	0	0	0	0	0	1	0	0	15828	827	29	2	735	2	TET1	10	70332828	Nonsense_Mutation	SNP	C	TCGA-E1-A7YH-01A-11D-A34A-08	45423715	70332828	65201919	18	23400											
FAM196A	642938	broad.mit.edu	37	10	128974295	128974295	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YH-01A-11D-A34A-08	TCGA-E1-A7YH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7bd016e-062a-49f1-8294-8fcb32b15cb0	22ba3a91-d5b4-4dde-a2cf-84830a225008	g.chr10:128974295C>T	ENST00000522781.1	-	4	920	c.365G>A	c.(364-366)cGc>cAc	p.R122H	FAM196A_ENST00000424811.2_Missense_Mutation_p.R122H|DOCK1_ENST00000280333.6_Intron	NM_001039762.2	NP_001034851.1	Q6ZSG2	F196A_HUMAN	family with sequence similarity 196, member A	122										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						CCCCTTTTTGCGGTCCAGAGG	0.547													4	68					0	0	1	0	0	T	128974295	C	T	128974295	3	4	165	1	0	0	0	0	1	0	0	0	5560	768	27	1	1086	1	FAM196A	10	128974295	Missense_Mutation	SNP	C	TCGA-E1-A7YH-01A-11D-A34A-08	58641467	128974295	6560452	19	23401											
SPON1	10418	broad.mit.edu	37	11	14096906	14096906	+	RNA	DEL	A	A	-			TCGA-E1-A7YH-01A-11D-A34A-08	TCGA-E1-A7YH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7bd016e-062a-49f1-8294-8fcb32b15cb0	22ba3a91-d5b4-4dde-a2cf-84830a225008	g.chr11:14096906delA	ENST00000310358.7	+	0	1032							Q9HCB6	SPON1_HUMAN	spondin 1, extracellular matrix protein						cell adhesion	extracellular space|proteinaceous extracellular matrix	protein binding			NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	21				Epithelial(150;0.00898)		AGCATCGTACAAAAACGCATT	0.517													2	4	---	---	---	---						-	14096906	A	-	14096906	6	5	165	0	1	1	0	1	0	0	0	0	15138	130	5	0		0	SPON1	11	14096906	RNA	DEL	A	TCGA-E1-A7YH-01A-11D-A34A-08		14096906	120909610	20	23402											
ARFGAP2	84364	broad.mit.edu	37	11	47196860	47196860	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YH-01A-11D-A34A-08	TCGA-E1-A7YH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7bd016e-062a-49f1-8294-8fcb32b15cb0	22ba3a91-d5b4-4dde-a2cf-84830a225008	g.chr11:47196860G>A	ENST00000524782.1	-	4	497	c.269C>T	c.(268-270)gCt>gTt	p.A90V	ARFGAP2_ENST00000426335.2_Intron|ARFGAP2_ENST00000319543.6_Intron|ARFGAP2_ENST00000395449.3_5'UTR|ARFGAP2_ENST00000419701.2_Missense_Mutation_p.A11V	NM_001242832.1|NM_032389.4	NP_001229761.1|NP_115765.2	Q8N6H7	ARFG2_HUMAN	ADP-ribosylation factor GTPase activating protein 2	90	Arf-GAP.				protein transport|regulation of ARF GTPase activity|vesicle-mediated transport	Golgi membrane|nucleolus|plasma membrane	ARF GTPase activator activity|zinc ion binding			breast(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						GCGAAAAAAAGCCGTCTGGAG	0.512													35	65					0	0	1	0	0	A	47196860	G	A	47196860	3	1	165	1	0	0	0	0	1	0	0	0	847	971	34	2	1348	2	ARFGAP2	11	47196860	Missense_Mutation	SNP	G	TCGA-E1-A7YH-01A-11D-A34A-08	33099954	47196860	87809656	21	23403											
DTX1	1840	broad.mit.edu	37	12	113532652	113532652	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YH-01A-11D-A34A-08	TCGA-E1-A7YH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7bd016e-062a-49f1-8294-8fcb32b15cb0	22ba3a91-d5b4-4dde-a2cf-84830a225008	g.chr12:113532652G>A	ENST00000257600.3	+	6	1789	c.1286G>A	c.(1285-1287)cGg>cAg	p.R429Q	DTX1_ENST00000547974.1_3'UTR	NM_004416.2	NP_004407.2	Q86Y01	DTX1_HUMAN	deltex homolog 1 (Drosophila)	429					negative regulation of neuron differentiation|Notch signaling pathway|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter	cytoplasm|nucleus	Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	32						GGCGTGCTTCGGCACAAGGGC	0.652													14	21					0	0	1	0	0	A	113532652	G	A	113532652	3	1	165	1	0	0	0	0	1	0	0	0	4819	1116	39	1	1308	1	DTX1	12	113532652	Missense_Mutation	SNP	G	TCGA-E1-A7YH-01A-11D-A34A-08		113532652	20319243	22	23404											
TMOD2	29767	broad.mit.edu	37	15	52060571	52060574	+	Frame_Shift_Del	DEL	AGAA	AGAA	-			TCGA-E1-A7YH-01A-11D-A34A-08	TCGA-E1-A7YH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7bd016e-062a-49f1-8294-8fcb32b15cb0	22ba3a91-d5b4-4dde-a2cf-84830a225008	g.chr15:52060571_52060574delAGAA	ENST00000249700.4	+	3	460_463	c.239_242delAGAA	c.(238-243)cagaaafs	p.QK80fs	TMOD2_ENST00000435126.2_Frame_Shift_Del_p.QK80fs|TMOD2_ENST00000539962.2_Frame_Shift_Del_p.QK36fs	NM_001142885.1|NM_014548.3	NP_001136357.1|NP_055363.1	Q9NZR1	TMOD2_HUMAN	tropomodulin 2 (neuronal)	80					nervous system development	cytoplasm|cytoskeleton	actin binding|tropomyosin binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	16				all cancers(107;0.00435)		GCTTTGGAACAGAAAGACAGAGAG	0.505													9	48	---	---	---	---						-	52060574	AGAA	-	52060571	7	5	165	1	0	1	0	1	0	0	0	0	16294	188	7	0	245	0	TMOD2	15	52060571	Frame_Shift_Del	DEL	AGAA	TCGA-E1-A7YH-01A-11D-A34A-08		52060571	50470821	23	23405											
CMTM3	123920	broad.mit.edu	37	16	66643846	66643846	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YH-01A-11D-A34A-08	TCGA-E1-A7YH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7bd016e-062a-49f1-8294-8fcb32b15cb0	22ba3a91-d5b4-4dde-a2cf-84830a225008	g.chr16:66643846G>A	ENST00000424011.2	+	5	986	c.460G>A	c.(460-462)Gtg>Atg	p.V154M	CMTM3_ENST00000567572.1_Missense_Mutation_p.V154M|CMTM3_ENST00000568477.1_Missense_Mutation_p.V68M|CMTM3_ENST00000562707.1_Missense_Mutation_p.V154M|CMTM3_ENST00000565922.1_Intron|CMTM3_ENST00000360086.4_Intron|CMTM3_ENST00000565003.1_Missense_Mutation_p.V68M|CMTM3_ENST00000566121.1_Missense_Mutation_p.V68M|CMTM3_ENST00000564060.1_Missense_Mutation_p.V122M|CMTM3_ENST00000460097.1_Missense_Mutation_p.V68M|CMTM3_ENST00000565666.1_3'UTR|CMTM3_ENST00000361909.4_Missense_Mutation_p.V154M			Q96MX0	CKLF3_HUMAN	CKLF-like MARVEL transmembrane domain containing 3	154	MARVEL.				chemotaxis	extracellular space|integral to membrane	cytokine activity			central_nervous_system(1)|endometrium(1)|lung(2)	4		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0671)|Epithelial(162;0.164)		CTTTAACGACGTGGCCAAATT	0.527													7	73					0	0	1	0	0	A	66643846	G	A	66643846	3	1	165	1	0	0	0	0	1	0	0	0	3607	1145	40	1	474	1	CMTM3	16	66643846	Missense_Mutation	SNP	G	TCGA-E1-A7YH-01A-11D-A34A-08		66643846	23710907	24	23406											
TP53	7157	broad.mit.edu	37	17	7577108	7577108	+	Missense_Mutation	SNP	C	C	A			TCGA-E1-A7YH-01A-11D-A34A-08	TCGA-E1-A7YH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7bd016e-062a-49f1-8294-8fcb32b15cb0	22ba3a91-d5b4-4dde-a2cf-84830a225008	g.chr17:7577108C>A	ENST00000420246.2	-	8	962	c.830G>T	c.(829-831)tGt>tTt	p.C277F	TP53_ENST00000413465.2_Intron|TP53_ENST00000269305.4_Missense_Mutation_p.C277F|TP53_ENST00000445888.2_Missense_Mutation_p.C277F|TP53_ENST00000455263.2_Missense_Mutation_p.C277F|TP53_ENST00000359597.4_Missense_Mutation_p.C277F	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	277	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in an osteosarcoma with no family history; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.C277F(24)|p.C277Y(15)|p.0?(8)|p.?(2)|p.A276_R283delACPGRDRR(1)|p.C275fs*20(1)|p.A276fs*64(1)|p.L265_K305del41(1)|p.A276_C277delAC(1)|p.F270_D281del12(1)|p.V274_P278del(1)|p.S269fs*21(1)|p.C275fs*67(1)|p.C277S(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(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)		TCTCCCAGGACAGGCACAAAC	0.547		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)			21	10					1.64113e-05	1.64113e-05	1	1	0	A	7577108	C	A	7577108	3	1	165	1	0	0	0	0	1	0	0	0	16442	478	17	5	456	5	TP53	17	7577108	Missense_Mutation	SNP	C	TCGA-E1-A7YH-01A-11D-A34A-08		7577108	73618102	25	23407											
TBX4	9496	broad.mit.edu	37	17	59560652	59560652	+	Silent	SNP	T	T	C			TCGA-E1-A7YH-01A-11D-A34A-08	TCGA-E1-A7YH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7bd016e-062a-49f1-8294-8fcb32b15cb0	22ba3a91-d5b4-4dde-a2cf-84830a225008	g.chr17:59560652T>C	ENST00000393853.4	+	9	1579	c.1416T>C	c.(1414-1416)ttT>ttC	p.F472F	TBX4_ENST00000589449.1_3'UTR|TBX4_ENST00000240335.1_Silent_p.F471F			P57082	TBX4_HUMAN	T-box 4	471					leg morphogenesis|skeletal system morphogenesis	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(15)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						ATGCCCACTTTAGTGTCTACA	0.647													15	51					0	0	1	0	0	C	59560652	T	C	59560652	2	2	165	1	0	0	0	0	0	0	0	1	15720	1751	61	3		3	TBX4	17	59560652	Silent	SNP	T	TCGA-E1-A7YH-01A-11D-A34A-08	51983544	59560652	21634558	26	23408											
ZCCHC2	54877	broad.mit.edu	37	18	60242148	60242148	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YH-01A-11D-A34A-08	TCGA-E1-A7YH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7bd016e-062a-49f1-8294-8fcb32b15cb0	22ba3a91-d5b4-4dde-a2cf-84830a225008	g.chr18:60242148C>T	ENST00000269499.5	+	13	3252	c.2834C>T	c.(2833-2835)cCa>cTa	p.P945L	ZCCHC2_ENST00000586834.1_Missense_Mutation_p.P624L	NM_017742.4	NP_060212.4	Q9C0B9	ZCHC2_HUMAN	zinc finger, CCHC domain containing 2	945					cell communication	cytoplasm	nucleic acid binding|phosphatidylinositol binding|zinc ion binding			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25						TCTCCCCAGCCAGCGAGCGCA	0.642													24	43					0	0	1	0	0	T	60242148	C	T	60242148	3	4	165	1	0	0	0	0	1	0	0	0	17645	594	21	2	2884	2	ZCCHC2	18	60242148	Missense_Mutation	SNP	C	TCGA-E1-A7YH-01A-11D-A34A-08		60242148	17835100	27	23409											
ZHX3	23051	broad.mit.edu	37	20	39831589	39831589	+	Silent	SNP	A	A	T			TCGA-E1-A7YH-01A-11D-A34A-08	TCGA-E1-A7YH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7bd016e-062a-49f1-8294-8fcb32b15cb0	22ba3a91-d5b4-4dde-a2cf-84830a225008	g.chr20:39831589A>T	ENST00000309060.3	-	4	2383	c.1968T>A	c.(1966-1968)atT>atA	p.I656I	ZHX3_ENST00000560361.1_Silent_p.I656I|ZHX3_ENST00000540170.1_Silent_p.I656I|ZHX3_ENST00000559234.1_Silent_p.I656I|ZHX3_ENST00000432768.2_Silent_p.I656I|ZHX3_ENST00000544979.2_Silent_p.I656I|ZHX3_ENST00000558993.1_Intron|ZHX3_ENST00000557816.1_Intron			Q9H4I2	ZHX3_HUMAN	zinc fingers and homeoboxes 3	656					negative regulation of transcription, DNA-dependent	cytoplasm|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(5)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		Myeloproliferative disorder(115;0.00425)				ACCAGCTATCAATTTCTCGTC	0.502													4	154					0	0	1	0	0	T	39831589	A	T	39831589	2	4	165	1	0	0	0	0	0	0	0	1	17735	126	5	5		5	ZHX3	20	39831589	Silent	SNP	A	TCGA-E1-A7YH-01A-11D-A34A-08		39831589	23193931	28	23410											
TRPM2	7226	broad.mit.edu	37	21	45833896	45833896	+	Missense_Mutation	SNP	C	C	G			TCGA-E1-A7YH-01A-11D-A34A-08	TCGA-E1-A7YH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7bd016e-062a-49f1-8294-8fcb32b15cb0	22ba3a91-d5b4-4dde-a2cf-84830a225008	g.chr21:45833896C>G	ENST00000397928.1	+	20	3530	c.3085C>G	c.(3085-3087)Ctc>Gtc	p.L1029V	TRPM2_ENST00000300481.9_Missense_Mutation_p.L1009V|TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000300482.5_Missense_Mutation_p.L1029V|TRPM2_ENST00000397932.2_Missense_Mutation_p.L1029V	NM_003307.3	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	1029						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						GGTCCTCCTACTCTGCCTCTA	0.642													6	262					0	0	1	0	0	G	45833896	C	G	45833896	3	3	165	1	0	0	0	0	1	0	0	0	16647	565	20	4	3163	4	TRPM2	21	45833896	Missense_Mutation	SNP	C	TCGA-E1-A7YH-01A-11D-A34A-08		45833896	2295999	29	23411											
ARSD	414	broad.mit.edu	37	X	2836162	2836162	+	Silent	SNP	G	G	A			TCGA-E1-A7YH-01A-11D-A34A-08	TCGA-E1-A7YH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7bd016e-062a-49f1-8294-8fcb32b15cb0	22ba3a91-d5b4-4dde-a2cf-84830a225008	g.chrX:2836162G>A	ENST00000381154.1	-	5	621	c.546C>T	c.(544-546)aaC>aaT	p.N182N	ARSD_ENST00000217890.6_5'UTR	NM_001669.3	NP_001660.2	P51689	ARSD_HUMAN	arylsulfatase D	182						lysosome	arylsulfatase activity|metal ion binding			large_intestine(3)|lung(3)	6		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GGTCACAGTCGTTTGTGAGCG	0.632													9	7					0	0	1	0	0	A	2836162	G	A	2836162	2	1	165	1	0	0	0	0	0	0	0	1	988	1136	40	1		1	ARSD	23	2836162	Silent	SNP	G	TCGA-E1-A7YH-01A-11D-A34A-08		2836162	152434398	30	23412											
DCAF8L1	139425	broad.mit.edu	37	X	27998604	27998604	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YH-01A-11D-A34A-08	TCGA-E1-A7YH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7bd016e-062a-49f1-8294-8fcb32b15cb0	22ba3a91-d5b4-4dde-a2cf-84830a225008	g.chrX:27998604G>A	ENST00000441525.1	-	1	962	c.848C>T	c.(847-849)gCc>gTc	p.A283V		NM_001017930.1	NP_001017930.1	A6NGE4	DC8L1_HUMAN	DDB1 and CUL4 associated factor 8-like 1	283										NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						CCTGTGCTTGGCCACACGCTT	0.507													24	48					0	0	1	0	0	A	27998604	G	A	27998604	3	1	165	1	0	0	0	0	1	0	0	0	4301	1203	42	2	958	2	DCAF8L1	23	27998604	Missense_Mutation	SNP	G	TCGA-E1-A7YH-01A-11D-A34A-08	25162442	27998604	127271956	31	23413											
KIF4A	24137	broad.mit.edu	37	X	69572507	69572507	+	Splice_Site	SNP	G	G	A			TCGA-E1-A7YH-01A-11D-A34A-08	TCGA-E1-A7YH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7bd016e-062a-49f1-8294-8fcb32b15cb0	22ba3a91-d5b4-4dde-a2cf-84830a225008	g.chrX:69572507G>A	ENST00000374403.3	+	14	1570		c.e14+1		KIF4A_ENST00000374388.3_Splice_Site	NM_012310.4	NP_036442.3	O95239	KIF4A_HUMAN	kinesin family member 4A						anterograde axon cargo transport|axon guidance|blood coagulation|organelle organization	chromosome|cytosol|midbody|nuclear matrix|spindle microtubule	ATP binding|DNA binding|microtubule motor activity|protein binding			breast(6)|endometrium(9)|kidney(3)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	51						GCAAGAAGCCGTAAGTAATTG	0.433													4	52					0	0	1	0	0	A	69572507	G	A	69572507	5	1	165	1	0	0	0	0	0	0	1	0	8345	1159	40	1	1539	1	KIF4A	23	69572507	Splice_Site	SNP	G	TCGA-E1-A7YH-01A-11D-A34A-08	41573903	69572507	85698053	32	23414											
ATRX	546	broad.mit.edu	37	X	76876000	76876000	+	Splice_Site	SNP	C	C	T			TCGA-E1-A7YH-01A-11D-A34A-08	TCGA-E1-A7YH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7bd016e-062a-49f1-8294-8fcb32b15cb0	22ba3a91-d5b4-4dde-a2cf-84830a225008	g.chrX:76876000C>T	ENST00000373344.5	-	20	5349	c.5135G>A	c.(5134-5136)gGc>gAc	p.G1712D	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Splice_Site_p.G1674D	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1712	Helicase ATP-binding.				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)	AAAATCAGGGCCTACAAAAAT	0.289			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						12	24					0	0	1	0	0	T	76876000	C	T	76876000	5	4	165	1	0	0	0	0	0	0	1	0	1206	753	26	2	2407	2	ATRX	23	76876000	Splice_Site	SNP	C	TCGA-E1-A7YH-01A-11D-A34A-08	7303493	76876000	78394560	33	23415											
CYLC1	1538	broad.mit.edu	37	X	83127919	83127919	+	Missense_Mutation	SNP	A	A	G			TCGA-E1-A7YH-01A-11D-A34A-08	TCGA-E1-A7YH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7bd016e-062a-49f1-8294-8fcb32b15cb0	22ba3a91-d5b4-4dde-a2cf-84830a225008	g.chrX:83127919A>G	ENST00000329312.4	+	4	240	c.203A>G	c.(202-204)gAa>gGa	p.E68G		NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head cytoskeleton 1	68					cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						AAACTAGAAGAAGGCCAGAAA	0.343													15	21					0	0	1	0	0	G	83127919	A	G	83127919	3	3	165	1	0	0	0	0	1	0	0	0	4164	246	9	3	217	3	CYLC1	23	83127919	Missense_Mutation	SNP	A	TCGA-E1-A7YH-01A-11D-A34A-08	6251919	83127919	72142641	34	23416											
CYLC1	1538	broad.mit.edu	37	X	83128300	83128300	+	Missense_Mutation	SNP	G	G	T			TCGA-E1-A7YH-01A-11D-A34A-08	TCGA-E1-A7YH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7bd016e-062a-49f1-8294-8fcb32b15cb0	22ba3a91-d5b4-4dde-a2cf-84830a225008	g.chrX:83128300G>T	ENST00000329312.4	+	4	621	c.584G>T	c.(583-585)tGt>tTt	p.C195F		NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head cytoskeleton 1	195					cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						TCAAAAAATTGTTCACAAAAA	0.318													15	40					7.93312e-07	8.09839e-07	1	1	0	T	83128300	G	T	83128300	3	4	165	1	0	0	0	0	1	0	0	0	4164	1377	48	5	598	5	CYLC1	23	83128300	Missense_Mutation	SNP	G	TCGA-E1-A7YH-01A-11D-A34A-08	381	83128300	72142260	35	23417											
TRMT2B	79979	broad.mit.edu	37	X	100277044	100277044	+	Missense_Mutation	SNP	A	A	G			TCGA-E1-A7YH-01A-11D-A34A-08	TCGA-E1-A7YH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7bd016e-062a-49f1-8294-8fcb32b15cb0	22ba3a91-d5b4-4dde-a2cf-84830a225008	g.chrX:100277044A>G	ENST00000338687.7	-	8	1434	c.629T>C	c.(628-630)cTc>cCc	p.L210P	TRMT2B_ENST00000372931.5_Missense_Mutation_p.L255P|TRMT2B_ENST00000545398.1_Missense_Mutation_p.L255P|TRMT2B_ENST00000372935.1_Missense_Mutation_p.L255P|TRMT2B_ENST00000372936.3_Missense_Mutation_p.L255P|TRMT2B_ENST00000372939.1_Missense_Mutation_p.L210P			Q96GJ1	TRM2_HUMAN	tRNA methyltransferase 2 homolog B (S. cerevisiae)	255							tRNA (uracil-5-)-methyltransferase activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	24						CTGAACATGGAGCTCCTCCTG	0.448													5	55					0	0	1	0	0	G	100277044	A	G	100277044	3	3	165	1	0	0	0	0	1	0	0	0	16627	304	11	3	774	3	TRMT2B	23	100277044	Missense_Mutation	SNP	A	TCGA-E1-A7YH-01A-11D-A34A-08	17148744	100277044	54993516	36	23418											
SEPT6	23157	broad.mit.edu	37	X	118774726	118774726	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YH-01A-11D-A34A-08	TCGA-E1-A7YH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7bd016e-062a-49f1-8294-8fcb32b15cb0	22ba3a91-d5b4-4dde-a2cf-84830a225008	g.chrX:118774726C>T	ENST00000394610.1	-	6	980	c.716G>A	c.(715-717)gGc>gAc	p.G239D	SEPT6_ENST00000394617.2_Missense_Mutation_p.G269D|SEPT6_ENST00000489216.1_Missense_Mutation_p.G239D|SEPT6_ENST00000360156.7_Missense_Mutation_p.G239D|SEPT6_ENST00000343984.5_Missense_Mutation_p.G239D|SEPT6_ENST00000354416.3_Missense_Mutation_p.G239D|SEPT6_ENST00000394616.4_Missense_Mutation_p.G181D|SEPT6_ENST00000354228.4_Missense_Mutation_p.G239D	NM_145799.3	NP_665798.1	Q14141	SEPT6_HUMAN	septin 6	239					cell cycle|cytokinesis|interspecies interaction between organisms	cleavage furrow|condensed chromosome kinetochore|midbody|septin complex|spindle	GTP binding|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(3)	17						TTCTGTGCTGCCAATGACAGC	0.537			T	MLL	AML								13	64					0	0	1	0	0	T	118774726	C	T	118774726	3	4	165	1	0	0	0	0	1	0	0	0	14122	739	26	2	630	2	SEPT6	23	118774726	Missense_Mutation	SNP	C	TCGA-E1-A7YH-01A-11D-A34A-08	18497682	118774726	36495834	37	23419											
COL11A1	1301	broad.mit.edu	37	1	103355017	103355017	+	Silent	SNP	C	C	T			TCGA-E1-A7YI-01A-11D-A34A-08	TCGA-E1-A7YI-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a43c97f-00b5-408e-82d2-793715d95569	2ee07ad5-b260-42a7-a26e-9681e0509e26	g.chr1:103355017C>T	ENST00000358392.2	-	59	4811	c.4494G>A	c.(4492-4494)ggG>ggA	p.G1498G	COL11A1_ENST00000512756.1_Silent_p.G1370G|COL11A1_ENST00000353414.4_Silent_p.G1447G|COL11A1_ENST00000370096.3_Silent_p.G1486G	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1486	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TCACCCCATCCCCTTTTGCTC	0.438													32	44					0	0	1	0	0	T	103355017	C	T	103355017	2	4	166	1	0	0	0	0	0	0	0	1	3690	610	22	2		2	COL11A1	1	103355017	Silent	SNP	C	TCGA-E1-A7YI-01A-11D-A34A-08		103355017	145895604	1	23420											
NCOA1	8648	broad.mit.edu	37	2	24952593	24952593	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YI-01A-11D-A34A-08	TCGA-E1-A7YI-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a43c97f-00b5-408e-82d2-793715d95569	2ee07ad5-b260-42a7-a26e-9681e0509e26	g.chr2:24952593G>A	ENST00000405141.1	+	18	3821	c.3110G>A	c.(3109-3111)gGc>gAc	p.G1037D	NCOA1_ENST00000288599.5_Missense_Mutation_p.G1037D|NCOA1_ENST00000348332.3_Missense_Mutation_p.G1037D|NCOA1_ENST00000407230.1_Missense_Mutation_p.G886D|NCOA1_ENST00000395856.3_Missense_Mutation_p.G1037D|NCOA1_ENST00000538539.1_Missense_Mutation_p.G1037D|NCOA1_ENST00000406961.1_Missense_Mutation_p.G1037D			Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1	1037									PAX3/NCOA1(8)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	53	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCTGGCATGGGCATGCAGCCC	0.542			T	PAX3	alveolar rhadomyosarcoma								4	152					0	0	1	0	0	A	24952593	G	A	24952593	3	1	166	1	0	0	0	0	1	0	0	0	10275	1203	42	2	3160	2	NCOA1	2	24952593	Missense_Mutation	SNP	G	TCGA-E1-A7YI-01A-11D-A34A-08		24952593	218246780	2	23421											
GLS	2744	broad.mit.edu	37	2	191795225	191795225	+	Missense_Mutation	SNP	G	G	T			TCGA-E1-A7YI-01A-11D-A34A-08	TCGA-E1-A7YI-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a43c97f-00b5-408e-82d2-793715d95569	2ee07ad5-b260-42a7-a26e-9681e0509e26	g.chr2:191795225G>T	ENST00000320717.3	+	13	1746	c.1488G>T	c.(1486-1488)atG>atT	p.M496I	GLS_ENST00000409215.1_Start_Codon_SNP_p.M1I|GLS_ENST00000409626.1_Missense_Mutation_p.M67I|GLS_ENST00000409428.1_Start_Codon_SNP_p.M1I|GLS_ENST00000338435.4_Missense_Mutation_p.M496I	NM_014905.4	NP_055720.3	O94925	GLSK_HUMAN	glutaminase	496					cellular amino acid biosynthetic process|glutamate secretion|glutamine catabolic process|neurotransmitter secretion	mitochondrial matrix	glutaminase activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	16			OV - Ovarian serous cystadenocarcinoma(117;0.00625)|Epithelial(96;0.0744)|all cancers(119;0.181)		L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	CCAATGTTATGGGTATGATGT	0.383													35	58					2.09667e-21	2.13048e-21	1	1	0	T	191795225	G	T	191795225	3	4	166	1	0	0	0	0	1	0	0	0	6505	1348	47	5	1538	5	GLS	2	191795225	Missense_Mutation	SNP	G	TCGA-E1-A7YI-01A-11D-A34A-08	166842632	191795225	51404148	3	23422											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-E1-A7YI-01A-11D-A34A-08	TCGA-E1-A7YI-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a43c97f-00b5-408e-82d2-793715d95569	2ee07ad5-b260-42a7-a26e-9681e0509e26	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	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								27	50					0	0	1	0	0	T	209113112	C	T	209113112	3	4	166	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-E1-A7YI-01A-11D-A34A-08	17317887	209113112	34086261	4	23423											
MYL1	4632	broad.mit.edu	37	2	211158461	211158461	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YI-01A-11D-A34A-08	TCGA-E1-A7YI-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a43c97f-00b5-408e-82d2-793715d95569	2ee07ad5-b260-42a7-a26e-9681e0509e26	g.chr2:211158461C>T	ENST00000352451.3	-	5	689	c.542G>A	c.(541-543)tGc>tAc	p.C181Y	MYL1_ENST00000341685.4_Missense_Mutation_p.C137Y|MYL1_ENST00000496436.1_5'UTR	NM_079420.2	NP_524144.1	P05976	MYL1_HUMAN	myosin, light chain 1, alkali; skeletal, fast	181	EF-hand 3.				muscle filament sliding|muscle organ development	cytosol|muscle myosin complex|sarcomere	calcium ion binding|structural constituent of muscle			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)	16				Epithelial(149;0.00573)|Lung(261;0.0422)|LUSC - Lung squamous cell carcinoma(261;0.0444)|all cancers(144;0.057)		GTAGTTGATGCAGCCATTGGA	0.443													4	237					0	0	1	0	0	T	211158461	C	T	211158461	3	4	166	1	0	0	0	0	1	0	0	0	10091	710	25	2	50	2	MYL1	2	211158461	Missense_Mutation	SNP	C	TCGA-E1-A7YI-01A-11D-A34A-08	2045349	211158461	32040912	5	23424											
FIP1L1	81608	broad.mit.edu	37	4	54308818	54308818	+	Splice_Site	SNP	A	A	C			TCGA-E1-A7YI-01A-11D-A34A-08	TCGA-E1-A7YI-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a43c97f-00b5-408e-82d2-793715d95569	2ee07ad5-b260-42a7-a26e-9681e0509e26	g.chr4:54308818A>C	ENST00000337488.6	+	14	1368		c.e14-1		FIP1L1_ENST00000507166.1_Intron|FIP1L1_ENST00000306932.6_Splice_Site|FIP1L1_ENST00000358575.5_Splice_Site	NM_030917.3	NP_112179.2	Q6UN15	FIP1_HUMAN	factor interacting with PAPOLA and CPSF1						mRNA processing	nucleus	RNA binding			large_intestine(3)|liver(1)|ovary(1)|skin(1)	6			GBM - Glioblastoma multiforme(3;3.31e-36)|LUSC - Lung squamous cell carcinoma(32;0.0134)			TGAATGTTTCAGGTTTTCCTC	0.353			T	PDGFRA	idiopathic hypereosinophilic syndrome								1095	72					0	0	1	0	0	C	54308818	A	C	54308818	5	2	166	1	0	0	0	0	0	0	1	0	5929	202	7	5	1258	5	FIP1L1	4	54308818	Splice_Site	SNP	A	TCGA-E1-A7YI-01A-11D-A34A-08		54308818	136845458	6	23425											
PDGFRA	5156	broad.mit.edu	37	4	55136821	55136821	+	Silent	SNP	G	G	C			TCGA-E1-A7YI-01A-11D-A34A-08	TCGA-E1-A7YI-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a43c97f-00b5-408e-82d2-793715d95569	2ee07ad5-b260-42a7-a26e-9681e0509e26	g.chr4:55136821G>C	ENST00000257290.5	+	8	1474	c.1143G>C	c.(1141-1143)ctG>ctC	p.L381L	FIP1L1_ENST00000507166.1_Intron	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	381	Ig-like C2-type 4.				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	AATTAAAGCTGATCCGTGCTA	0.333			"Mis, O, T"	FIP1L1	"GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			93	341					0	0	1	0	0	C	55136821	G	C	55136821	2	2	166	1	0	0	0	0	0	0	0	1	11708	1277	45	5		5	PDGFRA	4	55136821	Silent	SNP	G	TCGA-E1-A7YI-01A-11D-A34A-08	828003	55136821	136017455	7	23426			1	16		3	2	26	N	G	4.280074e-05
PDGFRA	5156	broad.mit.edu	37	4	55136837	55136837	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YI-01A-11D-A34A-08	TCGA-E1-A7YI-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a43c97f-00b5-408e-82d2-793715d95569	2ee07ad5-b260-42a7-a26e-9681e0509e26	g.chr4:55136837G>A	ENST00000257290.5	+	8	1490	c.1159G>A	c.(1159-1161)Gaa>Aaa	p.E387K	FIP1L1_ENST00000507166.1_Intron	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	387	Ig-like C2-type 4.				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	TGCTAAGGAAGAAGACAGTGG	0.338			"Mis, O, T"	FIP1L1	"GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			93	357					0	0	1	0	0	A	55136837	G	A	55136837	3	1	166	1	0	0	0	0	1	0	0	0	11708	943	33	2	1185	2	PDGFRA	4	55136837	Missense_Mutation	SNP	G	TCGA-E1-A7YI-01A-11D-A34A-08	16	55136837	136017439	8	23427	117	2	1	16		3	2	26	N	G	4.280074e-05
PDGFRA	5156	broad.mit.edu	37	4	55136846	55136846	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YI-01A-11D-A34A-08	TCGA-E1-A7YI-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a43c97f-00b5-408e-82d2-793715d95569	2ee07ad5-b260-42a7-a26e-9681e0509e26	g.chr4:55136846G>A	ENST00000257290.5	+	8	1499	c.1168G>A	c.(1168-1170)Ggc>Agc	p.G390S	FIP1L1_ENST00000507166.1_Intron	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	390	Ig-like C2-type 4.				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	AGAAGACAGTGGCCATTATAC	0.348			"Mis, O, T"	FIP1L1	"GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			93	355					0	0	1	0	0	A	55136846	G	A	55136846	3	1	166	1	0	0	0	0	1	0	0	0	11708	1348	47	2	1194	2	PDGFRA	4	55136846	Missense_Mutation	SNP	G	TCGA-E1-A7YI-01A-11D-A34A-08	9	55136846	136017430	9	23428	117	2	1	16		3	2	26	N	G	4.280074e-05
PDGFRA	5156	broad.mit.edu	37	4	55151636	55151636	+	Frame_Shift_Del	DEL	T	T	-			TCGA-E1-A7YI-01A-11D-A34A-08	TCGA-E1-A7YI-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a43c97f-00b5-408e-82d2-793715d95569	2ee07ad5-b260-42a7-a26e-9681e0509e26	g.chr4:55151636delT	ENST00000257290.5	+	17	2753	c.2422delT	c.(2422-2424)tttfs	p.F808fs	FIP1L1_ENST00000507166.1_Frame_Shift_Del_p.F568fs	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	808	Protein kinase.				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity	p.F808L(1)		NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	AGGAATGGAGTTTTTGGCTTC	0.418			"Mis, O, T"	FIP1L1	"GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			7	2181	---	---	---	---						-	55151636	T	-	55151636	7	5	166	1	0	1	0	1	0	0	0	0	11708	1725	60	0	2484	0	PDGFRA	4	55151636	Frame_Shift_Del	DEL	T	TCGA-E1-A7YI-01A-11D-A34A-08	14790	55151636	136002640	10	23429											
UGT2B4	7363	broad.mit.edu	37	4	70359499	70359499	+	Missense_Mutation	SNP	T	T	A			TCGA-E1-A7YI-01A-11D-A34A-08	TCGA-E1-A7YI-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a43c97f-00b5-408e-82d2-793715d95569	2ee07ad5-b260-42a7-a26e-9681e0509e26	g.chr4:70359499T>A	ENST00000305107.6	-	2	828	c.782A>T	c.(781-783)tAc>tTc	p.Y261F	UGT2B4_ENST00000381096.3_Missense_Mutation_p.Y125F|UGT2B4_ENST00000506580.1_5'UTR|UGT2B4_ENST00000512583.1_Missense_Mutation_p.Y261F	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B4	261					estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47						AAAATCCCAGTAGTTTCGAAT	0.423													58	72					0	0	1	0	0	A	70359499	T	A	70359499	3	1	166	1	0	0	0	0	1	0	0	0	17021	1638	57	5	824	5	UGT2B4	4	70359499	Missense_Mutation	SNP	T	TCGA-E1-A7YI-01A-11D-A34A-08	15207863	70359499	120794777	11	23430											
PDHA2	5161	broad.mit.edu	37	4	96761796	96761796	+	Silent	SNP	C	C	T			TCGA-E1-A7YI-01A-11D-A34A-08	TCGA-E1-A7YI-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a43c97f-00b5-408e-82d2-793715d95569	2ee07ad5-b260-42a7-a26e-9681e0509e26	g.chr4:96761796C>T	ENST00000295266.4	+	1	558	c.495C>T	c.(493-495)gtC>gtT	p.V165V		NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 2	165					glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	NADH(DB00157)	ATGGCATCGTCGGTGCACAGG	0.507													35	48					0	0	1	0	0	T	96761796	C	T	96761796	2	4	166	1	0	0	0	0	0	0	0	1	11712	871	31	1		1	PDHA2	4	96761796	Silent	SNP	C	TCGA-E1-A7YI-01A-11D-A34A-08	26402297	96761796	94392480	12	23431											
CCDC109B	55013	broad.mit.edu	37	4	110581443	110581443	+	Frame_Shift_Del	DEL	T	T	-			TCGA-E1-A7YI-01A-11D-A34A-08	TCGA-E1-A7YI-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a43c97f-00b5-408e-82d2-793715d95569	2ee07ad5-b260-42a7-a26e-9681e0509e26	g.chr4:110581443delT	ENST00000394650.4	+	3	401	c.268delT	c.(268-270)ttgfs	p.L90fs	CCDC109B_ENST00000515114.1_3'UTR	NM_017918.4	NP_060388.2	Q9NWR8	C109B_HUMAN	coiled-coil domain containing 109B	90						integral to membrane				breast(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(1)	9				OV - Ovarian serous cystadenocarcinoma(123;6.65e-06)		CAAACCAATGTTGTCAACAGT	0.363													23	26	---	---	---	---						-	110581443	T	-	110581443	7	5	166	1	0	1	0	1	0	0	0	0	2763	1722	60	0	278	0	CCDC109B	4	110581443	Frame_Shift_Del	DEL	T	TCGA-E1-A7YI-01A-11D-A34A-08	13819647	110581443	80572833	13	23432											
TBC1D9	23158	broad.mit.edu	37	4	141545331	141545331	+	Missense_Mutation	SNP	A	A	G			TCGA-E1-A7YI-01A-11D-A34A-08	TCGA-E1-A7YI-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a43c97f-00b5-408e-82d2-793715d95569	2ee07ad5-b260-42a7-a26e-9681e0509e26	g.chr4:141545331A>G	ENST00000442267.2	-	20	3091	c.3017T>C	c.(3016-3018)cTg>cCg	p.L1006P		NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	1006						intracellular	calcium ion binding|Rab GTPase activator activity			endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				TGGAGTCCACAGTCTCAAATA	0.358													3	26					0	0	1	0	0	G	141545331	A	G	141545331	3	3	166	1	0	0	0	0	1	0	0	0	15687	188	7	3	791	3	TBC1D9	4	141545331	Missense_Mutation	SNP	A	TCGA-E1-A7YI-01A-11D-A34A-08	30963888	141545331	49608945	14	23433											
GUCY1A3	2982	broad.mit.edu	37	4	156631929	156631929	+	Silent	SNP	C	C	T			TCGA-E1-A7YI-01A-11D-A34A-08	TCGA-E1-A7YI-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a43c97f-00b5-408e-82d2-793715d95569	2ee07ad5-b260-42a7-a26e-9681e0509e26	g.chr4:156631929C>T	ENST00000296518.7	+	6	821	c.612C>T	c.(610-612)taC>taT	p.Y204Y	GUCY1A3_ENST00000506455.1_Silent_p.Y204Y|GUCY1A3_ENST00000393832.3_5'UTR|GUCY1A3_ENST00000511507.1_Silent_p.Y204Y|GUCY1A3_ENST00000455639.2_Silent_p.Y204Y|GUCY1A3_ENST00000511108.1_Silent_p.Y204Y|GUCY1A3_ENST00000513574.1_Silent_p.Y204Y			Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3	204					blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		ATGTTTACTACTTCTTCCCTA	0.473													5	51					0	0	1	0	0	T	156631929	C	T	156631929	2	4	166	1	0	0	0	0	0	0	0	1	6935	576	20	2		2	GUCY1A3	4	156631929	Silent	SNP	C	TCGA-E1-A7YI-01A-11D-A34A-08	15086598	156631929	34522347	15	23434											
DNAH5	1767	broad.mit.edu	37	5	13762997	13762997	+	Missense_Mutation	SNP	T	T	C			TCGA-E1-A7YI-01A-11D-A34A-08	TCGA-E1-A7YI-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a43c97f-00b5-408e-82d2-793715d95569	2ee07ad5-b260-42a7-a26e-9681e0509e26	g.chr5:13762997T>C	ENST00000265104.4	-	60	10219	c.10115A>G	c.(10114-10116)gAc>gGc	p.D3372G	DNAH5_ENST00000504001.3_5'UTR	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3372	Stalk (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					ATTGATTGTGTCTTTTGGGAA	0.368									Kartagener syndrome				15	26					0	0	1	0	0	C	13762997	T	C	13762997	3	2	166	1	0	0	0	0	1	0	0	0	4632	1667	58	3	3839	3	DNAH5	5	13762997	Missense_Mutation	SNP	T	TCGA-E1-A7YI-01A-11D-A34A-08		13762997	167152263	16	23435											
PCDHA1	56147	broad.mit.edu	37	5	140167778	140167778	+	Missense_Mutation	SNP	C	C	T	rs144781571		TCGA-E1-A7YI-01A-11D-A34A-08	TCGA-E1-A7YI-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a43c97f-00b5-408e-82d2-793715d95569	2ee07ad5-b260-42a7-a26e-9681e0509e26	g.chr5:140167778C>T	ENST00000504120.2	+	1	1903	c.1903C>T	c.(1903-1905)Cgt>Tgt	p.R635C	PCDHA1_ENST00000378133.3_Missense_Mutation_p.R635C|PCDHA1_ENST00000394633.3_Intron	NM_018900.2	NP_061723.1														breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGCACGACTCGTGTCCTGGA	0.652													24	32					0	0	1	0	0	T	140167778	C	T	140167778	3	4	166	1	0	0	0	0	1	0	0	0	11566	884	31	1	1905	1	PCDHA1	5	140167778	Missense_Mutation	SNP	C	TCGA-E1-A7YI-01A-11D-A34A-08	126404781	140167778	40747482	17	23436											
DAAM2	23500	broad.mit.edu	37	6	39828703	39828703	+	Splice_Site	SNP	G	G	A			TCGA-E1-A7YI-01A-11D-A34A-08	TCGA-E1-A7YI-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a43c97f-00b5-408e-82d2-793715d95569	2ee07ad5-b260-42a7-a26e-9681e0509e26	g.chr6:39828703G>A	ENST00000538976.1	+	3	350		c.e3-1		DAAM2_ENST00000405961.3_Splice_Site|DAAM2_ENST00000274867.4_Splice_Site|DAAM2_ENST00000494405.1_Splice_Site|DAAM2_ENST00000398904.2_Splice_Site	NM_015345.3	NP_056160.2	Q86T65	DAAM2_HUMAN	dishevelled associated activator of morphogenesis 2						actin cytoskeleton organization		actin binding|Rho GTPase binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49	Ovarian(28;0.0355)|Colorectal(47;0.196)					TGTCTTTGCAGGATGAATTGG	0.448													12	14					0	0	1	0	0	A	39828703	G	A	39828703	5	1	166	1	0	0	0	0	0	0	1	0	4240	1014	35	2	174	2	DAAM2	6	39828703	Splice_Site	SNP	G	TCGA-E1-A7YI-01A-11D-A34A-08		39828703	131286364	18	23437											
TREM2	54209	broad.mit.edu	37	6	41129082	41129082	+	Missense_Mutation	SNP	C	C	G			TCGA-E1-A7YI-01A-11D-A34A-08	TCGA-E1-A7YI-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a43c97f-00b5-408e-82d2-793715d95569	2ee07ad5-b260-42a7-a26e-9681e0509e26	g.chr6:41129082C>G	ENST00000373113.3	-	2	403	c.310G>C	c.(310-312)Gat>Cat	p.D104H	TREM2_ENST00000338469.3_Missense_Mutation_p.D104H|TREM2_ENST00000373122.4_Missense_Mutation_p.D104H	NM_018965.2	NP_061838.1	Q9NZC2	TREM2_HUMAN	triggering receptor expressed on myeloid cells 2	104	Ig-like V-type.				axon guidance|humoral immune response	extracellular region|integral to membrane|plasma membrane	receptor activity			breast(1)|endometrium(2)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)	11	Ovarian(28;0.0418)|Colorectal(47;0.196)					AGACCCGCATCATGGGGTTGT	0.607													12	62					0	0	1	0	0	G	41129082	C	G	41129082	3	3	166	1	0	0	0	0	1	0	0	0	16532	826	29	5	398	5	TREM2	6	41129082	Missense_Mutation	SNP	C	TCGA-E1-A7YI-01A-11D-A34A-08	1300379	41129082	129985985	19	23438											
TREM2	54209	broad.mit.edu	37	6	41129257	41129257	+	Silent	SNP	C	C	T			TCGA-E1-A7YI-01A-11D-A34A-08	TCGA-E1-A7YI-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a43c97f-00b5-408e-82d2-793715d95569	2ee07ad5-b260-42a7-a26e-9681e0509e26	g.chr6:41129257C>T	ENST00000373113.3	-	2	228	c.135G>A	c.(133-135)ggG>ggA	p.G45G	TREM2_ENST00000338469.3_Silent_p.G45G|TREM2_ENST00000373122.4_Silent_p.G45G	NM_018965.2	NP_061838.1	Q9NZC2	TREM2_HUMAN	triggering receptor expressed on myeloid cells 2	45	Ig-like V-type.				axon guidance|humoral immune response	extracellular region|integral to membrane|plasma membrane	receptor activity			breast(1)|endometrium(2)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)	11	Ovarian(28;0.0418)|Colorectal(47;0.196)					CCTTGCGCCTCCCCCAGTGCT	0.652													11	27					0	0	1	0	0	T	41129257	C	T	41129257	2	4	166	1	0	0	0	0	0	0	0	1	16532	842	30	2		2	TREM2	6	41129257	Silent	SNP	C	TCGA-E1-A7YI-01A-11D-A34A-08	175	41129257	129985810	20	23439											
ENPP5	59084	broad.mit.edu	37	6	46135856	46135856	+	Silent	SNP	C	C	T			TCGA-E1-A7YI-01A-11D-A34A-08	TCGA-E1-A7YI-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a43c97f-00b5-408e-82d2-793715d95569	2ee07ad5-b260-42a7-a26e-9681e0509e26	g.chr6:46135856C>T	ENST00000371383.2	-	3	404	c.144G>A	c.(142-144)acG>acA	p.T48T	ENPP5_ENST00000230565.3_Silent_p.T48T			Q9UJA9	ENPP5_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 5 (putative)	48						extracellular region|integral to membrane	hydrolase activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	12						GAAAATGGGGCGTTGGAACTT	0.353													16	22					0	0	1	0	0	T	46135856	C	T	46135856	2	4	166	1	0	0	0	0	0	0	0	1	5161	755	27	1		1	ENPP5	6	46135856	Silent	SNP	C	TCGA-E1-A7YI-01A-11D-A34A-08	5006599	46135856	124979211	21	23440											
POU3F2	5454	broad.mit.edu	37	6	99282842	99282842	+	Frame_Shift_Del	DEL	G	G	-			TCGA-E1-A7YI-01A-11D-A34A-08	TCGA-E1-A7YI-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a43c97f-00b5-408e-82d2-793715d95569	2ee07ad5-b260-42a7-a26e-9681e0509e26	g.chr6:99282842delG	ENST00000328345.5	+	1	263	c.93delG	c.(91-93)gcgfs	p.A31fs		NM_005604.3	NP_005595.2	P20265	PO3F2_HUMAN	POU class 3 homeobox 2	31					positive regulation of cell proliferation		identical protein binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(3)|lung(5)	10		all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197)		BRCA - Breast invasive adenocarcinoma(108;0.0355)		AGCAGGGCGCGGGGGGCTACC	0.701													2	4	---	---	---	---						-	99282842	G	-	99282842	7	5	166	1	0	1	0	1	0	0	0	0	12321	1103	39	0	95	0	POU3F2	6	99282842	Frame_Shift_Del	DEL	G	TCGA-E1-A7YI-01A-11D-A34A-08	53146986	99282842	71832225	22	23441											
EEPD1	80820	broad.mit.edu	37	7	36194133	36194133	+	Missense_Mutation	SNP	A	A	G			TCGA-E1-A7YI-01A-11D-A34A-08	TCGA-E1-A7YI-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a43c97f-00b5-408e-82d2-793715d95569	2ee07ad5-b260-42a7-a26e-9681e0509e26	g.chr7:36194133A>G	ENST00000242108.4	+	2	918	c.200A>G	c.(199-201)tAc>tGc	p.Y67C	EEPD1_ENST00000534978.1_Missense_Mutation_p.Y67C	NM_030636.2	NP_085139.2	Q7L9B9	EEPD1_HUMAN	endonuclease/exonuclease/phosphatase family domain containing 1	67	HhH.				DNA repair		DNA binding			endometrium(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|skin(1)	18						ATCGTGGAGTACCGAGAGTAT	0.582													46	56					0	0	1	0	0	G	36194133	A	G	36194133	3	3	166	1	0	0	0	0	1	0	0	0	4958	391	14	3	202	3	EEPD1	7	36194133	Missense_Mutation	SNP	A	TCGA-E1-A7YI-01A-11D-A34A-08		36194133	122944530	23	23442											
ATG9B	285973	broad.mit.edu	37	7	150718390	150718390	+	Missense_Mutation	SNP	A	A	G			TCGA-E1-A7YI-01A-11D-A34A-08	TCGA-E1-A7YI-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a43c97f-00b5-408e-82d2-793715d95569	2ee07ad5-b260-42a7-a26e-9681e0509e26	g.chr7:150718390A>G	ENST00000605938.1	-	5	923	c.848T>C	c.(847-849)cTc>cCc	p.L283P	ATG9B_ENST00000494791.1_5'UTR|ATG9B_ENST00000444312.1_Missense_Mutation_p.S21P|ATG9B_ENST00000377974.2_Missense_Mutation_p.L283P|ATG9B_ENST00000605952.1_Missense_Mutation_p.L283P	NM_173681.5	NP_775952.4	Q674R7	ATG9B_HUMAN	autophagy related 9B	283					autophagic vacuole assembly	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane				cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(4)|prostate(1)	14	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GACCAGGAGGAGGACCAGCAG	0.627													15	7					0	0	1	0	0	G	150718390	A	G	150718390	3	3	166	1	0	0	0	0	1	0	0	0	1102	304	11	3	1961	3	ATG9B	7	150718390	Missense_Mutation	SNP	A	TCGA-E1-A7YI-01A-11D-A34A-08	114524257	150718390	8420273	24	23443											
NEBL	10529	broad.mit.edu	37	10	21185916	21185916	+	Missense_Mutation	SNP	C	C	A			TCGA-E1-A7YI-01A-11D-A34A-08	TCGA-E1-A7YI-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a43c97f-00b5-408e-82d2-793715d95569	2ee07ad5-b260-42a7-a26e-9681e0509e26	g.chr10:21185916C>A	ENST00000377122.4	-	2	520	c.124G>T	c.(124-126)Gcc>Tcc	p.A42S	NEBL_ENST00000377119.1_Missense_Mutation_p.A42S|NEBL_ENST00000417816.2_Intron|NEBL_ENST00000377159.4_Intron	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN	nebulette	42					regulation of actin filament length		actin binding|structural constituent of muscle			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						CATTTTCTGGCCAATTCCATG	0.338													21	151					8.10497e-08	8.10497e-08	1	1	0	A	21185916	C	A	21185916	3	1	166	1	0	0	0	0	1	0	0	0	10350	739	26	5	3028	5	NEBL	10	21185916	Missense_Mutation	SNP	C	TCGA-E1-A7YI-01A-11D-A34A-08		21185916	114348831	25	23444											
ARMC3	219681	broad.mit.edu	37	10	23326313	23326313	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YI-01A-11D-A34A-08	TCGA-E1-A7YI-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a43c97f-00b5-408e-82d2-793715d95569	2ee07ad5-b260-42a7-a26e-9681e0509e26	g.chr10:23326313C>T	ENST00000298032.5	+	19	2608	c.2524C>T	c.(2524-2526)Ccc>Tcc	p.P842S	ARMC3_ENST00000409983.3_Missense_Mutation_p.P835S|ARMC3_ENST00000376528.4_Missense_Mutation_p.P579S	NM_173081.3	NP_775104.2	Q5W041	ARMC3_HUMAN	armadillo repeat containing 3	842							binding			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						TGGGGGCCTCCCCGCTCCTGA	0.502													21	70					0	0	1	0	0	T	23326313	C	T	23326313	3	4	166	1	0	0	0	0	1	0	0	0	951	623	22	2	2594	2	ARMC3	10	23326313	Missense_Mutation	SNP	C	TCGA-E1-A7YI-01A-11D-A34A-08	2140397	23326313	112208434	26	23445											
GBF1	8729	broad.mit.edu	37	10	104103892	104103892	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YI-01A-11D-A34A-08	TCGA-E1-A7YI-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a43c97f-00b5-408e-82d2-793715d95569	2ee07ad5-b260-42a7-a26e-9681e0509e26	g.chr10:104103892G>A	ENST00000369983.3	+	4	508	c.248G>A	c.(247-249)gGa>gAa	p.G83E		NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN	golgi brefeldin A resistant guanine nucleotide exchange factor 1	83					COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		CCTATCACTGGACTGGCACTC	0.468													5	112					0	0	1	0	0	A	104103892	G	A	104103892	3	1	166	1	0	0	0	0	1	0	0	0	6311	1174	41	2	258	2	GBF1	10	104103892	Missense_Mutation	SNP	G	TCGA-E1-A7YI-01A-11D-A34A-08	80777579	104103892	31430855	27	23446											
SLC18A2	6571	broad.mit.edu	37	10	119012955	119012955	+	Silent	SNP	T	T	C			TCGA-E1-A7YI-01A-11D-A34A-08	TCGA-E1-A7YI-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a43c97f-00b5-408e-82d2-793715d95569	2ee07ad5-b260-42a7-a26e-9681e0509e26	g.chr10:119012955T>C	ENST00000298472.5	+	4	653	c.510T>C	c.(508-510)ttT>ttC	p.F170F	SLC18A2_ENST00000497497.1_3'UTR	NM_003054.4	NP_003045.2	Q05940	VMAT2_HUMAN	solute carrier family 18 (vesicular monoamine transporter), member 2	170					neurotransmitter secretion	clathrin sculpted monoamine transport vesicle membrane|integral to plasma membrane|membrane fraction	monoamine transmembrane transporter activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)	29		Colorectal(252;0.19)		all cancers(201;0.029)	Alseroxylon(DB00386)|Reserpine(DB00206)|Tetrabenazine(DB04844)	GCATCATGTTTGTCTCAACAA	0.428													39	81					0	0	1	0	0	C	119012955	T	C	119012955	2	2	166	1	0	0	0	0	0	0	0	1	14481	1809	63	3		3	SLC18A2	10	119012955	Silent	SNP	T	TCGA-E1-A7YI-01A-11D-A34A-08	14909063	119012955	16521792	28	23447											
ST5	6764	broad.mit.edu	37	11	8751512	8751512	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YI-01A-11D-A34A-08	TCGA-E1-A7YI-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a43c97f-00b5-408e-82d2-793715d95569	2ee07ad5-b260-42a7-a26e-9681e0509e26	g.chr11:8751512C>T	ENST00000534127.1	-	6	1710	c.1325G>A	c.(1324-1326)cGc>cAc	p.R442H	ST5_ENST00000526757.1_Intron|ST5_ENST00000530438.1_Intron|ST5_ENST00000357665.1_Missense_Mutation_p.R442H|ST5_ENST00000313726.6_Missense_Mutation_p.R442H	NM_005418.3	NP_005409.3	P78524	ST5_HUMAN	suppression of tumorigenicity 5	442	Interaction with ABL1.				positive regulation of ERK1 and ERK2 cascade		protein binding			NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	39				Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)		CTGGGACTTGCGGTGACCACG	0.577													4	245					0	0	1	0	0	T	8751512	C	T	8751512	3	4	166	1	0	0	0	0	1	0	0	0	15276	768	27	1	2160	1	ST5	11	8751512	Missense_Mutation	SNP	C	TCGA-E1-A7YI-01A-11D-A34A-08		8751512	126255004	29	23448											
ZC3H12C	85463	broad.mit.edu	37	11	110036055	110036055	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YI-01A-11D-A34A-08	TCGA-E1-A7YI-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a43c97f-00b5-408e-82d2-793715d95569	2ee07ad5-b260-42a7-a26e-9681e0509e26	g.chr11:110036055G>A	ENST00000453089.2	+	5	3033	c.2152G>A	c.(2152-2154)Gac>Aac	p.D718N	ZC3H12C_ENST00000528673.1_Missense_Mutation_p.D750N|ZC3H12C_ENST00000278590.3_Missense_Mutation_p.D749N			Q9C0D7	ZC12C_HUMAN	zinc finger CCCH-type containing 12C	749							endonuclease activity|nucleic acid binding|zinc ion binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_cancers(61;3.24e-13)|all_epithelial(67;1.27e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.72e-06)|BRCA - Breast invasive adenocarcinoma(274;1.17e-05)|all cancers(92;9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0279)		CACGAGAATAGACAGCATCTC	0.577													44	48					0	0	1	0	0	A	110036055	G	A	110036055	3	1	166	1	0	0	0	0	1	0	0	0	17622	942	33	2	2267	2	ZC3H12C	11	110036055	Missense_Mutation	SNP	G	TCGA-E1-A7YI-01A-11D-A34A-08	101284543	110036055	24970461	30	23449											
SIK2	23235	broad.mit.edu	37	11	111591740	111591740	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YI-01A-11D-A34A-08	TCGA-E1-A7YI-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a43c97f-00b5-408e-82d2-793715d95569	2ee07ad5-b260-42a7-a26e-9681e0509e26	g.chr11:111591740C>T	ENST00000304987.3	+	12	2071	c.1898C>T	c.(1897-1899)gCg>gTg	p.A633V		NM_015191.1	NP_056006.1	Q9H0K1	SIK2_HUMAN	salt-inducible kinase 2	633					intracellular protein kinase cascade|regulation of insulin receptor signaling pathway	Golgi apparatus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	30						CCTAACCTGGCGCCGGCGGCT	0.532													44	44					0	0	1	0	0	T	111591740	C	T	111591740	3	4	166	1	0	0	0	0	1	0	0	0	14373	768	27	1	1944	1	SIK2	11	111591740	Missense_Mutation	SNP	C	TCGA-E1-A7YI-01A-11D-A34A-08	1555685	111591740	23414776	31	23450											
OR8B2	26595	broad.mit.edu	37	11	124252770	124252770	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YI-01A-11D-A34A-08	TCGA-E1-A7YI-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a43c97f-00b5-408e-82d2-793715d95569	2ee07ad5-b260-42a7-a26e-9681e0509e26	g.chr11:124252770G>A	ENST00000375013.2	-	1	488	c.470C>T	c.(469-471)aCg>aTg	p.T157M		NM_001005468.1	NP_001005468.1	Q96RD0	OR8B2_HUMAN	olfactory receptor, family 8, subfamily B, member 2	157					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(13)|ovary(1)	23		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		GGTGTGGGCCGTGGCTCCAGC	0.502													9	10					0	0	1	0	0	A	124252770	G	A	124252770	3	1	166	1	0	0	0	0	1	0	0	0	11274	1145	40	1	474	1	OR8B2	11	124252770	Missense_Mutation	SNP	G	TCGA-E1-A7YI-01A-11D-A34A-08	12661030	124252770	10753746	32	23451											
CDON	50937	broad.mit.edu	37	11	125867117	125867117	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YI-01A-11D-A34A-08	TCGA-E1-A7YI-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a43c97f-00b5-408e-82d2-793715d95569	2ee07ad5-b260-42a7-a26e-9681e0509e26	g.chr11:125867117G>A	ENST00000392693.3	-	12	2474	c.2347C>T	c.(2347-2349)Cgt>Tgt	p.R783C	CDON_ENST00000531738.1_Missense_Mutation_p.R160C|CDON_ENST00000263577.7_Missense_Mutation_p.R783C	NM_001243597.1|NM_016952.4	NP_001230526.1|NP_058648.4	Q4KMG0	CDON_HUMAN	cell adhesion associated, oncogene regulated	783	Fibronectin type-III 2.				cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	protein binding			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(9)|ovary(3)|prostate(2)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	61	all_hematologic(175;0.177)	Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604)		TCTAAACTACGAACTTCCACT	0.403													6	96					0	0	1	0	0	A	125867117	G	A	125867117	3	1	166	1	0	0	0	0	1	0	0	0	3192	1058	37	1	1483	1	CDON	11	125867117	Missense_Mutation	SNP	G	TCGA-E1-A7YI-01A-11D-A34A-08	1614347	125867117	9139399	33	23452											
TPH2	121278	broad.mit.edu	37	12	72366364	72366364	+	Missense_Mutation	SNP	G	G	A	rs139896303		TCGA-E1-A7YI-01A-11D-A34A-08	TCGA-E1-A7YI-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a43c97f-00b5-408e-82d2-793715d95569	2ee07ad5-b260-42a7-a26e-9681e0509e26	g.chr12:72366364G>A	ENST00000333850.3	+	6	815	c.674G>A	c.(673-675)cGg>cAg	p.R225Q		NM_173353.3	NP_775489.2	Q8IWU9	TPH2_HUMAN	tryptophan hydroxylase 2	225					aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	41					L-Tryptophan(DB00150)	GTTGTATTCCGGGAGCTCTCC	0.453													103	205					0	0	1	0	0	A	72366364	G	A	72366364	3	1	166	1	0	0	0	0	1	0	0	0	16463	1116	39	1	696	1	TPH2	12	72366364	Missense_Mutation	SNP	G	TCGA-E1-A7YI-01A-11D-A34A-08		72366364	61485531	34	23453											
MYBPC1	4604	broad.mit.edu	37	12	102023226	102023226	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YI-01A-11D-A34A-08	TCGA-E1-A7YI-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a43c97f-00b5-408e-82d2-793715d95569	2ee07ad5-b260-42a7-a26e-9681e0509e26	g.chr12:102023226G>A	ENST00000549145.1	+	5	257	c.157G>A	c.(157-159)Gaa>Aaa	p.E53K	MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000536007.1_Missense_Mutation_p.E40K|MYBPC1_ENST00000541119.1_Missense_Mutation_p.E28K|MYBPC1_ENST00000551300.1_5'UTR|MYBPC1_ENST00000361685.2_Missense_Mutation_p.E65K|MYBPC1_ENST00000360610.2_Missense_Mutation_p.E40K|MYBPC1_ENST00000547405.1_Missense_Mutation_p.E14K|MYBPC1_ENST00000392934.3_Missense_Mutation_p.E27K|MYBPC1_ENST00000547509.1_Missense_Mutation_p.E26K|MYBPC1_ENST00000452455.2_Missense_Mutation_p.E40K|MYBPC1_ENST00000550270.1_Missense_Mutation_p.E40K|MYBPC1_ENST00000361466.2_Missense_Mutation_p.E65K|MYBPC1_ENST00000441232.1_Missense_Mutation_p.E40K|MYBPC1_ENST00000545503.2_Missense_Mutation_p.E40K|MYBPC1_ENST00000553190.1_Missense_Mutation_p.E40K			Q00872	MYPC1_HUMAN	myosin binding protein C, slow type	40					cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						GACCCTTGTCGAAACTCCTCC	0.483													4	43					0	0	1	0	0	A	102023226	G	A	102023226	3	1	166	1	0	0	0	0	1	0	0	0	10059	1059	37	1	215	1	MYBPC1	12	102023226	Missense_Mutation	SNP	G	TCGA-E1-A7YI-01A-11D-A34A-08	29656862	102023226	31828669	35	23454											
MARK3	4140	broad.mit.edu	37	14	103915254	103915254	+	Splice_Site	SNP	A	A	T			TCGA-E1-A7YI-01A-11D-A34A-08	TCGA-E1-A7YI-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a43c97f-00b5-408e-82d2-793715d95569	2ee07ad5-b260-42a7-a26e-9681e0509e26	g.chr14:103915254A>T	ENST00000429436.2	+	4	807		c.e4-1		MARK3_ENST00000561071.1_Splice_Site|MARK3_ENST00000416682.2_Splice_Site|MARK3_ENST00000216288.7_Splice_Site|MARK3_ENST00000553942.1_Splice_Site|MARK3_ENST00000303622.9_Splice_Site|MARK3_ENST00000335102.5_Splice_Site|MARK3_ENST00000440884.3_Splice_Site	NM_001128918.1|NM_001128919.1	NP_001122390.1|NP_001122391.1	P27448	MARK3_HUMAN	MAP/microtubule affinity-regulating kinase 3								ATP binding|protein binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30		Melanoma(154;0.155)	Epithelial(46;0.241)			TTTTTTTTTTAGCTCTTCAGA	0.259													5	85					0	0	1	0	0	T	103915254	A	T	103915254	5	4	166	1	0	0	0	0	0	0	1	0	9364	434	15	5	310	5	MARK3	14	103915254	Splice_Site	SNP	A	TCGA-E1-A7YI-01A-11D-A34A-08		103915254	3434286	36	23455											
SPTBN5	51332	broad.mit.edu	37	15	42170651	42170652	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-E1-A7YI-01A-11D-A34A-08	TCGA-E1-A7YI-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a43c97f-00b5-408e-82d2-793715d95569	2ee07ad5-b260-42a7-a26e-9681e0509e26	g.chr15:42170651_42170652delCT	ENST00000320955.6	-	17	3585_3586	c.3358_3359delAG	c.(3358-3360)agtfs	p.S1120fs		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	1120					actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		AGCCTGGACACTCTCTGCCCAC	0.639													9	16	---	---	---	---						-	42170652	CT	-	42170651	7	5	166	1	0	1	0	1	0	0	0	0	15178	565	20	0	7873	0	SPTBN5	15	42170651	Frame_Shift_Del	DEL	CT	TCGA-E1-A7YI-01A-11D-A34A-08		42170651	60360741	37	23456											
DMXL2	23312	broad.mit.edu	37	15	51750758	51750758	+	Missense_Mutation	SNP	G	G	C			TCGA-E1-A7YI-01A-11D-A34A-08	TCGA-E1-A7YI-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a43c97f-00b5-408e-82d2-793715d95569	2ee07ad5-b260-42a7-a26e-9681e0509e26	g.chr15:51750758G>C	ENST00000251076.5	-	35	8364	c.8077C>G	c.(8077-8079)Ctg>Gtg	p.L2693V	RP11-707P17.1_ENST00000561007.1_RNA|DMXL2_ENST00000449909.3_Missense_Mutation_p.L2057V|RP11-707P17.2_ENST00000559977.1_RNA|DMXL2_ENST00000543779.2_Missense_Mutation_p.L2694V|RP11-707P17.2_ENST00000559173.1_RNA|RP11-707P17.2_ENST00000560727.1_RNA	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	2693						cell junction|synaptic vesicle membrane	Rab GTPase binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		TGACAGGCCAGTAGAGAAGTA	0.348													15	35					0	0	1	0	0	C	51750758	G	C	51750758	3	2	166	1	0	0	0	0	1	0	0	0	4623	1020	36	4	1069	4	DMXL2	15	51750758	Missense_Mutation	SNP	G	TCGA-E1-A7YI-01A-11D-A34A-08	9580107	51750758	50780634	38	23457											
CYP11A1	1583	broad.mit.edu	37	15	74632093	74632093	+	Splice_Site	SNP	G	G	A	rs139449608		TCGA-E1-A7YI-01A-11D-A34A-08	TCGA-E1-A7YI-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a43c97f-00b5-408e-82d2-793715d95569	2ee07ad5-b260-42a7-a26e-9681e0509e26	g.chr15:74632093G>A	ENST00000358632.4	-	6	1213	c.518C>T	c.(517-519)aCg>aTg	p.T173M	CYP11A1_ENST00000268053.6_Splice_Site_p.T331M|CYP11A1_ENST00000541301.1_3'UTR|CYP11A1_ENST00000419019.2_Splice_Site_p.T173M	NM_001099773.1	NP_001093243.1	P05108	CP11A_HUMAN	cytochrome P450, family 11, subfamily A, polypeptide 1	331					C21-steroid hormone biosynthetic process|cholesterol metabolic process|vitamin D metabolic process|xenobiotic metabolic process	mitochondrial matrix	cholesterol monooxygenase (side-chain-cleaving) activity|electron carrier activity|heme binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20					Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Clotrimazole(DB00257)|Digitoxin(DB01396)|Digoxin(DB00390)|Medroxyprogesterone(DB00603)|Ouabain(DB01092)|Progesterone(DB00396)|Testosterone(DB00624)|Trilostane(DB01108)	GGTCATGGACGTCTGGTGGGG	0.582													5	35					0	0	1	0	0	A	74632093	G	A	74632093	5	1	166	1	0	0	0	0	0	0	1	0	4167	1159	40	1	589	1	CYP11A1	15	74632093	Splice_Site	SNP	G	TCGA-E1-A7YI-01A-11D-A34A-08	22881335	74632093	27899299	39	23458											
TP53	7157	broad.mit.edu	37	17	7577022	7577022	+	Nonsense_Mutation	SNP	G	G	A	rs121913344		TCGA-E1-A7YI-01A-11D-A34A-08	TCGA-E1-A7YI-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a43c97f-00b5-408e-82d2-793715d95569	2ee07ad5-b260-42a7-a26e-9681e0509e26	g.chr17:7577022G>A	ENST00000420246.2	-	8	1048	c.916C>T	c.(916-918)Cga>Tga	p.R306*	TP53_ENST00000359597.4_Nonsense_Mutation_p.R306*|TP53_ENST00000413465.2_Intron|TP53_ENST00000269305.4_Nonsense_Mutation_p.R306*|TP53_ENST00000445888.2_Nonsense_Mutation_p.R306*|TP53_ENST00000455263.2_Nonsense_Mutation_p.R306*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	306	Interaction with CARM1.|Interaction with HIPK1 (By similarity).		R -> P (in LFS; germline mutation and in a sporadic cancer; somatic mutation).|R -> Q (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.R306*(133)|p.0?(8)|p.?(3)|p.R306fs*39(2)|p.K305fs*1(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)		TGCTTACCTCGCTTAGTGCTC	0.562	R306*(HCC1937_BREAST)|R306*(JURLMK1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R306*(MFE296_ENDOMETRIUM)|R306*(MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R306*(RCM1_LARGE_INTESTINE)	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)			33	30					0	0	1	0	0	A	7577022	G	A	7577022	4	1	166	1	0	0	0	0	0	1	0	0	16442	1095	38	1	370	1	TP53	17	7577022	Nonsense_Mutation	SNP	G	TCGA-E1-A7YI-01A-11D-A34A-08		7577022	73618188	40	23459											
TP53	7157	broad.mit.edu	37	17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	rs121913343		TCGA-E1-A7YI-01A-11D-A34A-08	TCGA-E1-A7YI-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a43c97f-00b5-408e-82d2-793715d95569	2ee07ad5-b260-42a7-a26e-9681e0509e26	g.chr17:7577121G>A	ENST00000420246.2	-	8	949	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron|TP53_ENST00000269305.4_Missense_Mutation_p.R273C|TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000455263.2_Missense_Mutation_p.R273C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	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).		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.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			7	15					0	0	1	0	0	A	7577121	G	A	7577121	3	1	166	1	0	0	0	0	1	0	0	0	16442	1087	38	1	469	1	TP53	17	7577121	Missense_Mutation	SNP	G	TCGA-E1-A7YI-01A-11D-A34A-08	99	7577121	73618089	41	23460											
CHD3	1107	broad.mit.edu	37	17	7814264	7814264	+	Nonsense_Mutation	SNP	C	C	T			TCGA-E1-A7YI-01A-11D-A34A-08	TCGA-E1-A7YI-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a43c97f-00b5-408e-82d2-793715d95569	2ee07ad5-b260-42a7-a26e-9681e0509e26	g.chr17:7814264C>T	ENST00000380358.4	+	39	6032	c.6031C>T	c.(6031-6033)Cag>Tag	p.Q2011*	CHD3_ENST00000330494.7_Nonsense_Mutation_p.Q1952*|CHD3_ENST00000358181.4_Nonsense_Mutation_p.Q1918*	NM_001005271.2	NP_001005271.2	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	1952					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				CAATTACAGCCAGATGCCTGC	0.642													22	29					0	0	1	0	0	T	7814264	C	T	7814264	4	4	166	1	0	0	0	0	0	1	0	0	3348	595	21	2	6289	2	CHD3	17	7814264	Nonsense_Mutation	SNP	C	TCGA-E1-A7YI-01A-11D-A34A-08	237143	7814264	73380946	42	23461											
SHMT1	6470	broad.mit.edu	37	17	18233958	18233958	+	Missense_Mutation	SNP	A	A	G			TCGA-E1-A7YI-01A-11D-A34A-08	TCGA-E1-A7YI-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a43c97f-00b5-408e-82d2-793715d95569	2ee07ad5-b260-42a7-a26e-9681e0509e26	g.chr17:18233958A>G	ENST00000316694.3	-	10	1216	c.1082T>C	c.(1081-1083)gTg>gCg	p.V361A	SHMT1_ENST00000352886.6_Missense_Mutation_p.V281A|SHMT1_ENST00000354098.3_Missense_Mutation_p.V322A|SHMT1_ENST00000539052.1_Missense_Mutation_p.V223A	NM_004169.3	NP_004160.3	P34896	GLYC_HUMAN	serine hydroxymethyltransferase 1 (soluble)	361					carnitine biosynthetic process|folic acid metabolic process|L-serine catabolic process|one-carbon metabolic process|purine base biosynthetic process	cytosol|nucleus	glycine hydroxymethyltransferase activity|protein homodimerization activity|pyridoxal phosphate binding			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)	13					Glycine(DB00145)|Mimosine(DB01055)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116)	ACGGAGATCCACAAGGATCAA	0.478													15	27					0	0	1	0	0	G	18233958	A	G	18233958	3	3	166	1	0	0	0	0	1	0	0	0	14340	159	6	3	381	3	SHMT1	17	18233958	Missense_Mutation	SNP	A	TCGA-E1-A7YI-01A-11D-A34A-08	10419694	18233958	62961252	43	23462											
KRT13	3860	broad.mit.edu	37	17	39658985	39658985	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YI-01A-11D-A34A-08	TCGA-E1-A7YI-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a43c97f-00b5-408e-82d2-793715d95569	2ee07ad5-b260-42a7-a26e-9681e0509e26	g.chr17:39658985C>T	ENST00000246635.3	-	5	1023	c.977G>A	c.(976-978)cGc>cAc	p.R326H	KRT13_ENST00000336861.3_Missense_Mutation_p.R326H|KRT13_ENST00000587544.1_Missense_Mutation_p.R326H	NM_153490.2	NP_705694	P13646	K1C13_HUMAN	keratin 13	326	Coil 2.|Rod.				epidermis development	intermediate filament	structural molecule activity	p.R326H(1)		NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	33		Breast(137;0.000286)				TTGGAGCGTGCGCCTGAGCTC	0.577													80	97					0	0	1	0	0	T	39658985	C	T	39658985	3	4	166	1	0	0	0	0	1	0	0	0	8493	768	27	1	415	1	KRT13	17	39658985	Missense_Mutation	SNP	C	TCGA-E1-A7YI-01A-11D-A34A-08	21425027	39658985	41536225	44	23463											
TYK2	7297	broad.mit.edu	37	19	10464804	10464804	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YI-01A-11D-A34A-08	TCGA-E1-A7YI-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a43c97f-00b5-408e-82d2-793715d95569	2ee07ad5-b260-42a7-a26e-9681e0509e26	g.chr19:10464804C>T	ENST00000525621.1	-	20	3303	c.2822G>A	c.(2821-2823)cGc>cAc	p.R941H	TYK2_ENST00000264818.6_Missense_Mutation_p.R941H|TYK2_ENST00000524462.1_Missense_Mutation_p.R756H	NM_003331.4	NP_003322.3	P29597	TYK2_HUMAN	tyrosine kinase 2	941	Protein kinase 2.				intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			CCAGCCCGAGCGGTGCTGGGG	0.622													48	58					0	0	1	0	0	T	10464804	C	T	10464804	3	4	166	1	0	0	0	0	1	0	0	0	16872	768	27	1	765	1	TYK2	19	10464804	Missense_Mutation	SNP	C	TCGA-E1-A7YI-01A-11D-A34A-08		10464804	48664179	45	23464											
FCGBP	8857	broad.mit.edu	37	19	40354340	40354340	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YI-01A-11D-A34A-08	TCGA-E1-A7YI-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a43c97f-00b5-408e-82d2-793715d95569	2ee07ad5-b260-42a7-a26e-9681e0509e26	g.chr19:40354340C>T	ENST00000221347.6	-	35	16136	c.16129G>A	c.(16129-16131)Ggg>Agg	p.G5377R		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	5377	VWFD 13.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GTCTGGTCCCCGTCAAAGTTT	0.557													12	17					0	0	1	0	0	T	40354340	C	T	40354340	3	4	166	1	0	0	0	0	1	0	0	0	5811	652	23	1	96	1	FCGBP	19	40354340	Missense_Mutation	SNP	C	TCGA-E1-A7YI-01A-11D-A34A-08	29889536	40354340	18774643	46	23465											
NLRP5	126206	broad.mit.edu	37	19	56539151	56539151	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YI-01A-11D-A34A-08	TCGA-E1-A7YI-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a43c97f-00b5-408e-82d2-793715d95569	2ee07ad5-b260-42a7-a26e-9681e0509e26	g.chr19:56539151C>T	ENST00000390649.3	+	7	1552	c.1552C>T	c.(1552-1554)Cgc>Tgc	p.R518C		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	518	NACHT.					mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		CGTGGTCCGGCGCTGTCTCAA	0.592													16	14					0	0	1	0	0	T	56539151	C	T	56539151	3	4	166	1	0	0	0	0	1	0	0	0	10527	768	27	1	1578	1	NLRP5	19	56539151	Missense_Mutation	SNP	C	TCGA-E1-A7YI-01A-11D-A34A-08	16184811	56539151	2589832	47	23466											
REM1	28954	broad.mit.edu	37	20	30064294	30064294	+	Nonsense_Mutation	SNP	C	C	T			TCGA-E1-A7YI-01A-11D-A34A-08	TCGA-E1-A7YI-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a43c97f-00b5-408e-82d2-793715d95569	2ee07ad5-b260-42a7-a26e-9681e0509e26	g.chr20:30064294C>T	ENST00000201979.2	+	2	339	c.46C>T	c.(46-48)Cga>Tga	p.R16*	DEFB124_ENST00000481595.1_Intron	NM_014012.4	NP_054731.2	O75628	REM1_HUMAN	RAS (RAD and GEM)-like GTP-binding 1	16					small GTPase mediated signal transduction	membrane	calmodulin binding|GTP binding|GTPase activity	p.R16R(1)		kidney(3)|large_intestine(3)|lung(14)|pancreas(2)|upper_aerodigestive_tract(1)	23	all_cancers(5;0.000119)|Lung NSC(7;1.32e-05)|all_lung(7;2.14e-05)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			TCTGCACCGGCGAGCCAGCAC	0.617													20	25					0	0	1	0	0	T	30064294	C	T	30064294	4	4	166	1	0	0	0	0	0	1	0	0	13274	760	27	1	48	1	REM1	20	30064294	Nonsense_Mutation	SNP	C	TCGA-E1-A7YI-01A-11D-A34A-08		30064294	32961226	48	23467											
HIC2	23119	broad.mit.edu	37	22	21800304	21800304	+	Frame_Shift_Del	DEL	C	C	-			TCGA-E1-A7YI-01A-11D-A34A-08	TCGA-E1-A7YI-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a43c97f-00b5-408e-82d2-793715d95569	2ee07ad5-b260-42a7-a26e-9681e0509e26	g.chr22:21800304delC	ENST00000443632.2	+	2	1492	c.1120delC	c.(1120-1122)cccfs	p.P374fs	HIC2_ENST00000407464.2_Frame_Shift_Del_p.P374fs|HIC2_ENST00000407598.2_Frame_Shift_Del_p.P374fs			Q96JB3	HIC2_HUMAN	hypermethylated in cancer 2	374					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	focal adhesion|nucleus	DNA binding|protein C-terminus binding|zinc ion binding			NS(1)|endometrium(4)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16	Melanoma(16;0.000465)|Ovarian(15;0.00438)|Colorectal(54;0.0968)	Lung SC(17;0.0262)|all_lung(157;0.205)				GGACAGGGTTCCCAATGGCAT	0.667													2	4	---	---	---	---						-	21800304	C	-	21800304	7	5	166	1	0	1	0	1	0	0	0	0	7143	855	30	0	1126	0	HIC2	22	21800304	Frame_Shift_Del	DEL	C	TCGA-E1-A7YI-01A-11D-A34A-08		21800304	29504262	49	23468											
EFNB1	1947	broad.mit.edu	37	X	68060348	68060348	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YI-01A-11D-A34A-08	TCGA-E1-A7YI-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a43c97f-00b5-408e-82d2-793715d95569	2ee07ad5-b260-42a7-a26e-9681e0509e26	g.chrX:68060348G>A	ENST00000204961.4	+	5	1672	c.892G>A	c.(892-894)Gag>Aag	p.E298K		NM_004429.4	NP_004420.1	P98172	EFNB1_HUMAN	ephrin-B1	298					cell adhesion|cell-cell signaling	integral to plasma membrane|soluble fraction|synapse	ephrin receptor binding			breast(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)	22						AGCGGGCACCGAGCCCAGCGA	0.627													3	19					0	0	1	0	0	A	68060348	G	A	68060348	3	1	166	1	0	0	0	0	1	0	0	0	4981	1059	37	1	910	1	EFNB1	23	68060348	Missense_Mutation	SNP	G	TCGA-E1-A7YI-01A-11D-A34A-08		68060348	87210212	50	23469											
ATRX	546	broad.mit.edu	37	X	76909647	76909647	+	Nonsense_Mutation	SNP	T	T	A			TCGA-E1-A7YI-01A-11D-A34A-08	TCGA-E1-A7YI-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a43c97f-00b5-408e-82d2-793715d95569	2ee07ad5-b260-42a7-a26e-9681e0509e26	g.chrX:76909647T>A	ENST00000373344.5	-	14	4472	c.4258A>T	c.(4258-4260)Aaa>Taa	p.K1420*	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Nonsense_Mutation_p.K1382*	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1420					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)	TTTTTCTGTTTATAGCTCCGC	0.323			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						72	71					0	0	1	0	0	A	76909647	T	A	76909647	4	1	166	1	0	0	0	0	0	1	0	0	1206	1763	61	5	3308	5	ATRX	23	76909647	Nonsense_Mutation	SNP	T	TCGA-E1-A7YI-01A-11D-A34A-08	8849299	76909647	78360913	51	23470											
NXF5	55998	broad.mit.edu	37	X	101092592	101092592	+	Silent	SNP	A	A	G			TCGA-E1-A7YI-01A-11D-A34A-08	TCGA-E1-A7YI-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a43c97f-00b5-408e-82d2-793715d95569	2ee07ad5-b260-42a7-a26e-9681e0509e26	g.chrX:101092592A>G	ENST00000537026.1	-	15	1313	c.954T>C	c.(952-954)tgT>tgC	p.C318C	NXF5_ENST00000361708.2_Silent_p.C318C|NXF5_ENST00000473265.2_Silent_p.C318C	NM_032946.2	NP_116564.2	Q9H1B4	NXF5_HUMAN	nuclear RNA export factor 5	318	NTF2; truncated.				mRNA export from nucleus|multicellular organismal development	actin cytoskeleton|cytoplasm|nucleus	nucleocytoplasmic transporter activity|nucleotide binding|protein binding|RNA binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|skin(1)	30						CGTTTCGTGGACATTTTGTGT	0.537													36	78					0	0	1	0	0	G	101092592	A	G	101092592	2	3	166	1	0	0	0	0	0	0	0	1	10834	273	10	3		3	NXF5	23	101092592	Silent	SNP	A	TCGA-E1-A7YI-01A-11D-A34A-08	24182945	101092592	54177968	52	23471											
UTP14A	10813	broad.mit.edu	37	X	129060301	129060301	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YI-01A-11D-A34A-08	TCGA-E1-A7YI-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a43c97f-00b5-408e-82d2-793715d95569	2ee07ad5-b260-42a7-a26e-9681e0509e26	g.chrX:129060301G>A	ENST00000394422.3	+	14	2057	c.2029G>A	c.(2029-2031)Gca>Aca	p.A677T	UTP14A_ENST00000425117.2_Missense_Mutation_p.A625T|RP4-537K23.4_ENST00000432062.1_RNA|UTP14A_ENST00000371051.5_Missense_Mutation_p.A623T|UTP14A_ENST00000371042.3_Missense_Mutation_p.A509T	NM_006649.3	NP_006640.2	Q9BVJ6	UT14A_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein, homolog A (yeast)	677					rRNA processing	nucleolus|small-subunit processome	protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(16)|ovary(3)|urinary_tract(1)	32						CAACATCCACGCAGCTGCTCA	0.453											OREG0019920	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	81					0	0	1	0	0	A	129060301	G	A	129060301	3	1	166	1	0	0	0	0	1	0	0	0	17155	1087	38	1	2083	1	UTP14A	23	129060301	Missense_Mutation	SNP	G	TCGA-E1-A7YI-01A-11D-A34A-08	27967709	129060301	26210259	53	23472											
HMGB3	3149	broad.mit.edu	37	X	150156360	150156360	+	Silent	SNP	G	G	A			TCGA-E1-A7YI-01A-11D-A34A-08	TCGA-E1-A7YI-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a43c97f-00b5-408e-82d2-793715d95569	2ee07ad5-b260-42a7-a26e-9681e0509e26	g.chrX:150156360G>A	ENST00000325307.7	+	5	672	c.576G>A	c.(574-576)gaG>gaA	p.E192E	HMGB3_ENST00000448905.2_Silent_p.E192E	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN	high mobility group box 3	192	Asp/Glu-rich (acidic).				DNA recombination|multicellular organismal development	chromosome|nucleus	DNA bending activity|double-stranded DNA binding	p.E192E(1)		endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8	Acute lymphoblastic leukemia(192;6.56e-05)					aggaagaagaggaggaggagg	0.443													5	145					0	0	1	0	0	A	150156360	G	A	150156360	2	1	166	1	0	0	0	0	0	0	0	1	7268	991	35	2		2	HMGB3	23	150156360	Silent	SNP	G	TCGA-E1-A7YI-01A-11D-A34A-08	21096059	150156360	5114200	54	23473											
EPHB2	2048	broad.mit.edu	37	1	23110996	23110996	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YJ-01A-11D-A34A-08	TCGA-E1-A7YJ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654fabe2-2ea1-41b5-aa4e-4df8b97d7552	b2b78f2f-604d-42fd-983e-42d431e68e4e	g.chr1:23110996C>T	ENST00000400191.3	+	3	256	c.238C>T	c.(238-240)Cgc>Tgc	p.R80C	EPHB2_ENST00000544305.1_Missense_Mutation_p.R80C|EPHB2_ENST00000374627.1_Missense_Mutation_p.R74C|EPHB2_ENST00000374630.3_Missense_Mutation_p.R80C|EPHB2_ENST00000374632.3_Missense_Mutation_p.R80C	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN	EPH receptor B2	80					axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		GTTTATCCGGCGCCGTGGCGC	0.577													16	18					0	0	1	0	0	T	23110996	C	T	23110996	3	4	167	1	0	0	0	0	1	0	0	0	5203	768	27	1	248	1	EPHB2	1	23110996	Missense_Mutation	SNP	C	TCGA-E1-A7YJ-01A-11D-A34A-08		23110996	226139625	1	23474											
FAM167B	84734	broad.mit.edu	37	1	32713189	32713189	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YJ-01A-11D-A34A-08	TCGA-E1-A7YJ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654fabe2-2ea1-41b5-aa4e-4df8b97d7552	b2b78f2f-604d-42fd-983e-42d431e68e4e	g.chr1:32713189G>A	ENST00000373582.3	+	1	356	c.167G>A	c.(166-168)cGc>cAc	p.R56H		NM_032648.2	NP_116037.2	Q9BTA0	F167B_HUMAN	family with sequence similarity 167, member B	56								p.R56H(1)		endometrium(1)|large_intestine(1)|lung(1)|ovary(2)	5						CAGGCCTGGCGCAGGGCCCAA	0.637													17	24					0	0	1	0	0	A	32713189	G	A	32713189	3	1	167	1	0	0	0	0	1	0	0	0	5514	1087	38	1	169	1	FAM167B	1	32713189	Missense_Mutation	SNP	G	TCGA-E1-A7YJ-01A-11D-A34A-08	9602193	32713189	216537432	2	23475											
C8A	731	broad.mit.edu	37	1	57347157	57347157	+	Silent	SNP	C	C	T			TCGA-E1-A7YJ-01A-11D-A34A-08	TCGA-E1-A7YJ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654fabe2-2ea1-41b5-aa4e-4df8b97d7552	b2b78f2f-604d-42fd-983e-42d431e68e4e	g.chr1:57347157C>T	ENST00000361249.3	+	5	600	c.504C>T	c.(502-504)taC>taT	p.Y168Y		NM_000562.2	NP_000553.1	P07357	CO8A_HUMAN	complement component 8, alpha polypeptide	168	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						AGAGTGTGTACGATGCCAGTT	0.473													41	60					0	0	1	0	0	T	57347157	C	T	57347157	2	4	167	1	0	0	0	0	0	0	0	1	2432	547	19	1		1	C8A	1	57347157	Silent	SNP	C	TCGA-E1-A7YJ-01A-11D-A34A-08	24633968	57347157	191903464	3	23476											
HMCN1	83872	broad.mit.edu	37	1	185985120	185985120	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YJ-01A-11D-A34A-08	TCGA-E1-A7YJ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654fabe2-2ea1-41b5-aa4e-4df8b97d7552	b2b78f2f-604d-42fd-983e-42d431e68e4e	g.chr1:185985120C>T	ENST00000271588.4	+	32	5169	c.4940C>T	c.(4939-4941)aCg>aTg	p.T1647M	HMCN1_ENST00000367492.2_Missense_Mutation_p.T1647M	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	1647	Ig-like C2-type 14.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						AACTTGGCCACGCCTTTGAAT	0.403													20	45					0	0	1	0	0	T	185985120	C	T	185985120	3	4	167	1	0	0	0	0	1	0	0	0	7261	536	19	1	5066	1	HMCN1	1	185985120	Missense_Mutation	SNP	C	TCGA-E1-A7YJ-01A-11D-A34A-08	128637963	185985120	63265501	4	23477											
CRB1	23418	broad.mit.edu	37	1	197313560	197313560	+	Missense_Mutation	SNP	A	A	C			TCGA-E1-A7YJ-01A-11D-A34A-08	TCGA-E1-A7YJ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654fabe2-2ea1-41b5-aa4e-4df8b97d7552	b2b78f2f-604d-42fd-983e-42d431e68e4e	g.chr1:197313560A>C	ENST00000367400.3	+	3	937	c.802A>C	c.(802-804)Agt>Cgt	p.S268R	CRB1_ENST00000538660.1_Missense_Mutation_p.S268R|CRB1_ENST00000535699.1_Missense_Mutation_p.S199R|CRB1_ENST00000367399.2_Intron|CRB1_ENST00000543483.1_5'UTR	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	268	EGF-like 7; calcium-binding (Potential).				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						TGAGTGTGCCAGTCAACCTTG	0.512													52	101					0	0	1	0	0	C	197313560	A	C	197313560	3	2	167	1	0	0	0	0	1	0	0	0	3871	188	7	5	812	5	CRB1	1	197313560	Missense_Mutation	SNP	A	TCGA-E1-A7YJ-01A-11D-A34A-08	11328440	197313560	51937061	5	23478											
OTOF	9381	broad.mit.edu	37	2	26700046	26700046	+	Silent	SNP	C	C	T			TCGA-E1-A7YJ-01A-11D-A34A-08	TCGA-E1-A7YJ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654fabe2-2ea1-41b5-aa4e-4df8b97d7552	b2b78f2f-604d-42fd-983e-42d431e68e4e	g.chr2:26700046C>T	ENST00000272371.2	-	21	2643	c.2517G>A	c.(2515-2517)gcG>gcA	p.A839A	OTOF_ENST00000402415.3_Silent_p.A149A|OTOF_ENST00000339598.3_Silent_p.A92A|OTOF_ENST00000403946.3_Silent_p.A839A|OTOF_ENST00000338581.6_Silent_p.A92A	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	839					cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCACCTCGTCCGCCAGGAAGC	0.677													8	5					0	0	1	0	0	T	26700046	C	T	26700046	2	4	167	1	0	0	0	0	0	0	0	1	11350	639	23	1		1	OTOF	2	26700046	Silent	SNP	C	TCGA-E1-A7YJ-01A-11D-A34A-08		26700046	216499327	6	23479											
GCC2	9648	broad.mit.edu	37	2	109086787	109086790	+	Frame_Shift_Del	DEL	CAAA	CAAA	-			TCGA-E1-A7YJ-01A-11D-A34A-08	TCGA-E1-A7YJ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654fabe2-2ea1-41b5-aa4e-4df8b97d7552	b2b78f2f-604d-42fd-983e-42d431e68e4e	g.chr2:109086787_109086790delCAAA	ENST00000309863.6	+	6	1716_1719	c.1002_1005delCAAA	c.(1000-1005)gtcaaafs	p.VK334fs		NM_181453.3	NP_852118	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain containing 2	334					Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum	membrane|trans-Golgi network	identical protein binding			breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						ATGAAAAAGTCAAACACTTAGAAG	0.294													13	38	---	---	---	---						-	109086790	CAAA	-	109086787	7	5	167	1	0	1	0	1	0	0	0	0	6326	813	29	0	1024	0	GCC2	2	109086787	Frame_Shift_Del	DEL	CAAA	TCGA-E1-A7YJ-01A-11D-A34A-08	82386741	109086787	134112586	7	23480											
FAP	2191	broad.mit.edu	37	2	163030242	163030242	+	Missense_Mutation	SNP	C	C	G			TCGA-E1-A7YJ-01A-11D-A34A-08	TCGA-E1-A7YJ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654fabe2-2ea1-41b5-aa4e-4df8b97d7552	b2b78f2f-604d-42fd-983e-42d431e68e4e	g.chr2:163030242C>G	ENST00000188790.4	-	23	2232	c.2025G>C	c.(2023-2025)gaG>gaC	p.E675D	FAP_ENST00000443424.1_Missense_Mutation_p.E650D	NM_004460.2	NP_004451.2	Q12884	SEPR_HUMAN	fibroblast activation protein, alpha	675					endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis	cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane	dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)	63						CCTTATAGTGCTCAAGATTAT	0.299													59	91					0	0	1	0	0	G	163030242	C	G	163030242	3	3	167	1	0	0	0	0	1	0	0	0	5706	796	28	4	273	4	FAP	2	163030242	Missense_Mutation	SNP	C	TCGA-E1-A7YJ-01A-11D-A34A-08	53943455	163030242	80169131	8	23481											
TTN	7273	broad.mit.edu	37	2	179500730	179500730	+	Silent	SNP	G	G	A			TCGA-E1-A7YJ-01A-11D-A34A-08	TCGA-E1-A7YJ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654fabe2-2ea1-41b5-aa4e-4df8b97d7552	b2b78f2f-604d-42fd-983e-42d431e68e4e	g.chr2:179500730G>A	ENST00000589042.1	-	226	41792	c.41568C>T	c.(41566-41568)aaC>aaT	p.N13856N	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Silent_p.N4983N|TTN_ENST00000359218.5_Silent_p.N4916N|TTN_ENST00000460472.2_Silent_p.N4791N|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342992.6_Silent_p.N11288N|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000591111.1_Silent_p.N12215N|TTN-AS1_ENST00000589830.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	12215							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGTTGTTGGCGTTTTCCACAG	0.453													24	58					0	0	1	0	0	A	179500730	G	A	179500730	2	1	167	1	0	0	0	0	0	0	0	1	16797	1136	40	1		1	TTN	2	179500730	Silent	SNP	G	TCGA-E1-A7YJ-01A-11D-A34A-08	16470488	179500730	63698643	9	23482											
AOX1	316	broad.mit.edu	37	2	201478598	201478598	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YJ-01A-11D-A34A-08	TCGA-E1-A7YJ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654fabe2-2ea1-41b5-aa4e-4df8b97d7552	b2b78f2f-604d-42fd-983e-42d431e68e4e	g.chr2:201478598C>T	ENST00000374700.2	+	15	1761	c.1520C>T	c.(1519-1521)gCg>gTg	p.A507V	AOX1_ENST00000485106.1_3'UTR	NM_001159.3	NP_001150.3	Q06278	ADO_HUMAN	aldehyde oxidase 1	507					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.A507V(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)	TTGGGCTCGGCGCCAGGTGGG	0.473													28	36					0	0	1	0	0	T	201478598	C	T	201478598	3	4	167	1	0	0	0	0	1	0	0	0	725	768	27	1	1578	1	AOX1	2	201478598	Missense_Mutation	SNP	C	TCGA-E1-A7YJ-01A-11D-A34A-08	21977868	201478598	41720775	10	23483											
CXCR1	3577	broad.mit.edu	37	2	219029011	219029011	+	Silent	SNP	G	G	A			TCGA-E1-A7YJ-01A-11D-A34A-08	TCGA-E1-A7YJ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654fabe2-2ea1-41b5-aa4e-4df8b97d7552	b2b78f2f-604d-42fd-983e-42d431e68e4e	g.chr2:219029011G>A	ENST00000295683.2	-	2	1044	c.924C>T	c.(922-924)atC>atT	p.I308I		NM_000634.2	NP_000625.1	P25024	CXCR1_HUMAN	chemokine (C-X-C motif) receptor 1	308					dendritic cell chemotaxis|inflammatory response	integral to membrane|plasma membrane	interleukin-8 receptor activity			endometrium(1)|large_intestine(2)|lung(7)|prostate(3)	13						AATTTTGGCCGATGAAGGCGT	0.537													5	70					0	0	1	0	0	A	219029011	G	A	219029011	2	1	167	1	0	0	0	0	0	0	0	1	4113	1048	37	1		1	CXCR1	2	219029011	Silent	SNP	G	TCGA-E1-A7YJ-01A-11D-A34A-08	17550413	219029011	24170362	11	23484											
NBEAL2	23218	broad.mit.edu	37	3	47040555	47040555	+	Frame_Shift_Del	DEL	C	C	-			TCGA-E1-A7YJ-01A-11D-A34A-08	TCGA-E1-A7YJ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654fabe2-2ea1-41b5-aa4e-4df8b97d7552	b2b78f2f-604d-42fd-983e-42d431e68e4e	g.chr3:47040555delC	ENST00000450053.3	+	24	3670	c.3491delC	c.(3490-3492)gccfs	p.A1164fs	NBEAL2_ENST00000383740.2_5'UTR|NBEAL2_ENST00000292309.5_Intron	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	1164	Leu-rich.						binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		GTGCTACTGGCCCTGCTAGTG	0.662											OREG0015546	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2	4	---	---	---	---						-	47040555	C	-	47040555	7	5	167	1	0	1	0	1	0	0	0	0	10237	739	26	0	3585	0	NBEAL2	3	47040555	Frame_Shift_Del	DEL	C	TCGA-E1-A7YJ-01A-11D-A34A-08		47040555	150981875	12	23485											
CCDC39	339829	broad.mit.edu	37	3	180359940	180359940	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YJ-01A-11D-A34A-08	TCGA-E1-A7YJ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654fabe2-2ea1-41b5-aa4e-4df8b97d7552	b2b78f2f-604d-42fd-983e-42d431e68e4e	g.chr3:180359940C>T	ENST00000273654.4	-	19	2586	c.1967G>A	c.(1966-1968)cGa>cAa	p.R656Q	CCDC39_ENST00000442201.2_Missense_Mutation_p.R572Q			Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39	572					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium axoneme|cytoplasm|cytoskeleton				NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			AAGCATTTCTCGAGTACGCTT	0.323													16	25					0	0	1	0	0	T	180359940	C	T	180359940	3	4	167	1	0	0	0	0	1	0	0	0	2830	884	31	1	1142	1	CCDC39	3	180359940	Missense_Mutation	SNP	C	TCGA-E1-A7YJ-01A-11D-A34A-08	133319385	180359940	17662490	13	23486											
SULT1E1	6783	broad.mit.edu	37	4	70709895	70709895	+	Silent	SNP	C	C	T			TCGA-E1-A7YJ-01A-11D-A34A-08	TCGA-E1-A7YJ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654fabe2-2ea1-41b5-aa4e-4df8b97d7552	b2b78f2f-604d-42fd-983e-42d431e68e4e	g.chr4:70709895C>T	ENST00000226444.3	-	7	868	c.756G>A	c.(754-756)tcG>tcA	p.S252S		NM_005420.2	NP_005411.1	P49888	ST1E1_HUMAN	sulfotransferase family 1E, estrogen-preferring, member 1	252					3'-phosphoadenosine 5'-phosphosulfate metabolic process|sulfation|xenobiotic metabolic process	cytosol|nuclear membrane	estrone sulfotransferase activity|flavonol 3-sulfotransferase activity|steroid binding|steroid sulfotransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	10						TCATGAAGGGCGACAATTTCT	0.393													50	77					0	0	1	0	0	T	70709895	C	T	70709895	2	4	167	1	0	0	0	0	0	0	0	1	15436	755	27	1		1	SULT1E1	4	70709895	Silent	SNP	C	TCGA-E1-A7YJ-01A-11D-A34A-08		70709895	120444381	14	23487											
PTPN13	5783	broad.mit.edu	37	4	87696751	87696751	+	Missense_Mutation	SNP	A	A	T			TCGA-E1-A7YJ-01A-11D-A34A-08	TCGA-E1-A7YJ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654fabe2-2ea1-41b5-aa4e-4df8b97d7552	b2b78f2f-604d-42fd-983e-42d431e68e4e	g.chr4:87696751A>T	ENST00000436978.1	+	35	6332	c.5852A>T	c.(5851-5853)gAa>gTa	p.E1951V	PTPN13_ENST00000427191.2_Missense_Mutation_p.E1927V|PTPN13_ENST00000411767.2_Missense_Mutation_p.E1946V|PTPN13_ENST00000316707.6_Missense_Mutation_p.E1755V|PTPN13_ENST00000511467.1_Missense_Mutation_p.E1951V	NM_080683.2|NM_080685.2	NP_542414.1|NP_542416.1	Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	1946	PDZ 5.					cytoplasm|cytoskeleton|plasma membrane	protein binding|protein tyrosine phosphatase activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		ACCTTGGAGGAAGTTAACAGA	0.418													15	19					0	0	1	0	0	T	87696751	A	T	87696751	3	4	167	1	0	0	0	0	1	0	0	0	12832	246	9	5	5986	5	PTPN13	4	87696751	Missense_Mutation	SNP	A	TCGA-E1-A7YJ-01A-11D-A34A-08	16986856	87696751	103457525	15	23488											
SFRP2	6423	broad.mit.edu	37	4	154702729	154702729	+	Silent	SNP	G	G	A			TCGA-E1-A7YJ-01A-11D-A34A-08	TCGA-E1-A7YJ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654fabe2-2ea1-41b5-aa4e-4df8b97d7552	b2b78f2f-604d-42fd-983e-42d431e68e4e	g.chr4:154702729G>A	ENST00000274063.4	-	3	1046	c.762C>T	c.(760-762)aaC>aaT	p.N254N		NM_003013.2	NP_003004.1	Q96HF1	SFRP2_HUMAN	secreted frizzled-related protein 2	254	NTR.				brain development|cardiac left ventricle morphogenesis|cell-cell signaling|dermatome development|hemopoietic stem cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|negative regulation of cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of transcription, DNA-dependent|outflow tract morphogenesis|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell adhesion mediated by integrin|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of fat cell differentiation|positive regulation of peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of stem cell division|sclerotome development	cytoplasm|extracellular matrix|extracellular space|plasma membrane	fibronectin binding|integrin binding|PDZ domain binding|receptor agonist activity|Wnt receptor activity|Wnt-protein binding			breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(1)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	16	all_hematologic(180;0.093)	Renal(120;0.117)				GATAGGGCGCGTTGATGTCGT	0.557													27	34					0	0	1	0	0	A	154702729	G	A	154702729	2	1	167	1	0	0	0	0	0	0	0	1	14216	1136	40	1		1	SFRP2	4	154702729	Silent	SNP	G	TCGA-E1-A7YJ-01A-11D-A34A-08	67005978	154702729	36451547	16	23489											
FGA	2243	broad.mit.edu	37	4	155505468	155505468	+	Silent	SNP	A	A	G			TCGA-E1-A7YJ-01A-11D-A34A-08	TCGA-E1-A7YJ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654fabe2-2ea1-41b5-aa4e-4df8b97d7552	b2b78f2f-604d-42fd-983e-42d431e68e4e	g.chr4:155505468A>G	ENST00000302053.3	-	6	2487	c.2409T>C	c.(2407-2409)taT>taC	p.Y803Y		NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	803	Fibrinogen C-terminal.				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	AGCCTCCCCCATAGACTTCTG	0.507													37	64					0	0	1	0	0	G	155505468	A	G	155505468	2	3	167	1	0	0	0	0	0	0	0	1	5863	224	8	3		3	FGA	4	155505468	Silent	SNP	A	TCGA-E1-A7YJ-01A-11D-A34A-08	802739	155505468	35648808	17	23490											
SLC12A7	10723	broad.mit.edu	37	5	1078124	1078125	+	Splice_Site	INS	-	-	GCAG			TCGA-E1-A7YJ-01A-11D-A34A-08	TCGA-E1-A7YJ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654fabe2-2ea1-41b5-aa4e-4df8b97d7552	b2b78f2f-604d-42fd-983e-42d431e68e4e	g.chr5:1078124_1078125insGCAG	ENST00000264930.5	-	12	1498		c.e12-2			NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 7						potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	TCCCCGAACCTgcaggcaggcg	0.673													3	6	---	---	---	---						GCAG	1078125	-	GCAG	1078124	8	5	167	1	0	1	1	0	0	0	1	0	14443	1594	55	0	1850	0	SLC12A7	5	1078124	Splice_Site	INS	-	TCGA-E1-A7YJ-01A-11D-A34A-08		1078124	179837136	18	23491											
PRDM9	56979	broad.mit.edu	37	5	23522420	23522420	+	Silent	SNP	G	G	A			TCGA-E1-A7YJ-01A-11D-A34A-08	TCGA-E1-A7YJ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654fabe2-2ea1-41b5-aa4e-4df8b97d7552	b2b78f2f-604d-42fd-983e-42d431e68e4e	g.chr5:23522420G>A	ENST00000296682.3	+	7	698	c.516G>A	c.(514-516)agG>agA	p.R172R		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	172					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						TAGAACTCAGGAAGAAGGAGA	0.428										HNSCC(3;0.000094)			38	67					0	0	1	0	0	A	23522420	G	A	23522420	2	1	167	1	0	0	0	0	0	0	0	1	12515	1165	41	2		2	PRDM9	5	23522420	Silent	SNP	G	TCGA-E1-A7YJ-01A-11D-A34A-08	22444296	23522420	157392840	19	23492											
DHX29	54505	broad.mit.edu	37	5	54586064	54586064	+	Missense_Mutation	SNP	T	T	C			TCGA-E1-A7YJ-01A-11D-A34A-08	TCGA-E1-A7YJ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654fabe2-2ea1-41b5-aa4e-4df8b97d7552	b2b78f2f-604d-42fd-983e-42d431e68e4e	g.chr5:54586064T>C	ENST00000251636.5	-	7	1037	c.889A>G	c.(889-891)Ata>Gta	p.I297V	RP11-506H20.1_ENST00000506435.1_RNA	NM_019030.2	NP_061903.2	Q7Z478	DHX29_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 29	297							ATP binding|ATP-dependent helicase activity|translation initiation factor activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|lung(6)|ovary(4)|prostate(1)|skin(3)|urinary_tract(2)	46		Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183)				AATTTCCTTATTTTTTCCTGA	0.358													26	32					0	0	1	0	0	C	54586064	T	C	54586064	3	2	167	1	0	0	0	0	1	0	0	0	4531	1493	52	3	3304	3	DHX29	5	54586064	Missense_Mutation	SNP	T	TCGA-E1-A7YJ-01A-11D-A34A-08	31063644	54586064	126329196	20	23493											
PCDHGA1	56114	broad.mit.edu	37	5	140712441	140712441	+	Silent	SNP	C	C	T			TCGA-E1-A7YJ-01A-11D-A34A-08	TCGA-E1-A7YJ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654fabe2-2ea1-41b5-aa4e-4df8b97d7552	b2b78f2f-604d-42fd-983e-42d431e68e4e	g.chr5:140712441C>T	ENST00000517417.1	+	1	2190	c.2190C>T	c.(2188-2190)ggC>ggT	p.G730G	PCDHGA1_ENST00000378105.3_Silent_p.G730G	NM_018912.2	NP_061735.1												p.G730G(4)		breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTTCGGGAGGCGGCTTAGCGA	0.662													43	74					0	0	1	0	0	T	140712441	C	T	140712441	2	4	167	1	0	0	0	0	0	0	0	1	11597	755	27	1		1	PCDHGA1	5	140712441	Silent	SNP	C	TCGA-E1-A7YJ-01A-11D-A34A-08	86126377	140712441	40202819	21	23494											
BPHL	670	broad.mit.edu	37	6	3140630	3140630	+	Silent	SNP	C	C	T			TCGA-E1-A7YJ-01A-11D-A34A-08	TCGA-E1-A7YJ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654fabe2-2ea1-41b5-aa4e-4df8b97d7552	b2b78f2f-604d-42fd-983e-42d431e68e4e	g.chr6:3140630C>T	ENST00000380375.3	+	7	1268	c.624C>T	c.(622-624)tgC>tgT	p.C208C	RP1-40E16.11_ENST00000447644.1_RNA|BPHL_ENST00000434640.1_Silent_p.C208C|BPHL_ENST00000380379.5_Silent_p.C225C|BPHL_ENST00000380368.2_3'UTR			Q86WA6	BPHL_HUMAN	biphenyl hydrolase-like (serine hydrolase)	225					cellular amino acid metabolic process|response to toxin	mitochondrion	hydrolase activity			endometrium(4)|kidney(1)|large_intestine(2)|lung(6)	13	Ovarian(93;0.0386)	all_hematologic(90;0.108)				GTAACATCTGCCGGCACCTGC	0.587													51	97					0	0	1	0	0	T	3140630	C	T	3140630	2	4	167	1	0	0	0	0	0	0	0	1	1491	747	26	2		2	BPHL	6	3140630	Silent	SNP	C	TCGA-E1-A7YJ-01A-11D-A34A-08		3140630	167974437	22	23495											
RUNX2	860	broad.mit.edu	37	6	45390482	45390482	+	Missense_Mutation	SNP	C	C	G			TCGA-E1-A7YJ-01A-11D-A34A-08	TCGA-E1-A7YJ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654fabe2-2ea1-41b5-aa4e-4df8b97d7552	b2b78f2f-604d-42fd-983e-42d431e68e4e	g.chr6:45390482C>G	ENST00000371438.1	+	2	569	c.211C>G	c.(211-213)Cag>Gag	p.Q71E	RUNX2_ENST00000352853.5_Missense_Mutation_p.Q139E|RUNX2_ENST00000576263.1_Missense_Mutation_p.Q71E|RUNX2_ENST00000541979.1_Missense_Mutation_p.Q139E|RUNX2_ENST00000465038.2_Missense_Mutation_p.Q71E|RUNX2_ENST00000359524.5_Missense_Mutation_p.Q57E|RUNX2_ENST00000371436.6_Missense_Mutation_p.Q71E|RUNX2_ENST00000371432.3_Missense_Mutation_p.Q57E	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	71	Poly-Gln.				negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						gcagcagcagcaggaggcggc	0.716													3	25					0	0	1	0	0	G	45390482	C	G	45390482	3	3	167	1	0	0	0	0	1	0	0	0	13800	711	25	5	233	5	RUNX2	6	45390482	Missense_Mutation	SNP	C	TCGA-E1-A7YJ-01A-11D-A34A-08	42249852	45390482	125724585	23	23496											
LPA	4018	broad.mit.edu	37	6	161015068	161015068	+	Missense_Mutation	SNP	A	A	G			TCGA-E1-A7YJ-01A-11D-A34A-08	TCGA-E1-A7YJ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654fabe2-2ea1-41b5-aa4e-4df8b97d7552	b2b78f2f-604d-42fd-983e-42d431e68e4e	g.chr6:161015068A>G	ENST00000447678.1	-	23	3671	c.3551T>C	c.(3550-3552)gTc>gCc	p.V1184A	LPA_ENST00000316300.5_Missense_Mutation_p.V1184A	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN	lipoprotein, Lp(a)	3692	Kringle 11.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	CCTTCCTGTGACAGTGGTAGA	0.478													4	100					0	0	1	0	0	G	161015068	A	G	161015068	3	3	167	1	0	0	0	0	1	0	0	0	8948	275	10	3	2643	3	LPA	6	161015068	Missense_Mutation	SNP	A	TCGA-E1-A7YJ-01A-11D-A34A-08	115624586	161015068	10099999	24	23497											
CRHR2	1395	broad.mit.edu	37	7	30721825	30721825	+	Missense_Mutation	SNP	C	C	A			TCGA-E1-A7YJ-01A-11D-A34A-08	TCGA-E1-A7YJ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654fabe2-2ea1-41b5-aa4e-4df8b97d7552	b2b78f2f-604d-42fd-983e-42d431e68e4e	g.chr7:30721825C>A	ENST00000471646.1	-	1	489	c.72G>T	c.(70-72)ttG>ttT	p.L24F	CRHR2_ENST00000506074.2_Missense_Mutation_p.L24F|CRHR2_ENST00000341843.4_Intron|CRHR2_ENST00000348438.4_Intron	NM_001202482.1|NM_001202483.1|NM_001883.4	NP_001189411.1|NP_001189412.1|NP_001874.2	Q13324	CRFR2_HUMAN	corticotropin releasing hormone receptor 2	24					G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	corticotrophin-releasing factor receptor activity|protein binding			breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CCCAGCCGTCCAAGAGCAGCT	0.736													6	17					0.00198382	0.00204486	1	1	0	A	30721825	C	A	30721825	3	1	167	1	0	0	0	0	1	0	0	0	3895	593	21	5	1211	5	CRHR2	7	30721825	Missense_Mutation	SNP	C	TCGA-E1-A7YJ-01A-11D-A34A-08		30721825	128416838	25	23498											
EGFR	1956	broad.mit.edu	37	7	55221710	55221710	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YJ-01A-11D-A34A-08	TCGA-E1-A7YJ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654fabe2-2ea1-41b5-aa4e-4df8b97d7552	b2b78f2f-604d-42fd-983e-42d431e68e4e	g.chr7:55221710C>T	ENST00000275493.2	+	7	931	c.754C>T	c.(754-756)Cgc>Tgc	p.R252C	EGFR_ENST00000442591.1_Missense_Mutation_p.R252C|EGFR_ENST00000455089.1_Missense_Mutation_p.R207C|EGFR_ENST00000344576.2_Missense_Mutation_p.R252C|EGFR_ENST00000454757.2_Missense_Mutation_p.R199C|EGFR_ENST00000342916.3_Missense_Mutation_p.R252C|EGFR_ENST00000420316.2_Missense_Mutation_p.R252C	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	252					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.R252C(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	ATAGGTCTGCCGCAAATTCCG	0.582		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			207	2919					0	0	1	0	0	T	55221710	C	T	55221710	3	4	167	1	0	0	0	0	1	0	0	0	4993	652	23	1	780	1	EGFR	7	55221710	Missense_Mutation	SNP	C	TCGA-E1-A7YJ-01A-11D-A34A-08	24499885	55221710	103916953	26	23499											
TAF2	6873	broad.mit.edu	37	8	120797466	120797468	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-E1-A7YJ-01A-11D-A34A-08	TCGA-E1-A7YJ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654fabe2-2ea1-41b5-aa4e-4df8b97d7552	b2b78f2f-604d-42fd-983e-42d431e68e4e	g.chr8:120797466_120797468delCTT	ENST00000378164.2	-	15	2130_2132	c.1832_1834delAAG	c.(1831-1836)gaagtt>gtt	p.E611del		NM_003184.3	NP_003175	Q6P1X5	TAF2_HUMAN	TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa	611					G2/M transition of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor TFIID complex|transcription factor TFTC complex	metallopeptidase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(2)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(21)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	49	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			TCCATATCAACTTCTTCTCCATT	0.305													29	70	---	---	---	---						-	120797468	CTT	-	120797466	7	5	167	1	0	1	0	1	0	0	0	0	15581	565	20	0	1813	0	TAF2	8	120797466	In_Frame_Del	DEL	CTT	TCGA-E1-A7YJ-01A-11D-A34A-08		120797466	25566556	27	23500											
TEK	7010	broad.mit.edu	37	9	27169602	27169602	+	Silent	SNP	G	G	A			TCGA-E1-A7YJ-01A-11D-A34A-08	TCGA-E1-A7YJ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654fabe2-2ea1-41b5-aa4e-4df8b97d7552	b2b78f2f-604d-42fd-983e-42d431e68e4e	g.chr9:27169602G>A	ENST00000380036.4	+	4	1045	c.603G>A	c.(601-603)tcG>tcA	p.S201S	TEK_ENST00000406359.4_Silent_p.S201S|TEK_ENST00000519097.1_Silent_p.S97S	NM_000459.3	NP_000450	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial	201					angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	p.S201S(1)		breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)		TCTTCACCTCGGCCTTCACCA	0.473													41	20					0	0	1	0	0	A	27169602	G	A	27169602	2	1	167	1	0	0	0	0	0	0	0	1	15810	1103	39	1		1	TEK	9	27169602	Silent	SNP	G	TCGA-E1-A7YJ-01A-11D-A34A-08		27169602	114043829	28	23501											
FRMD3	257019	broad.mit.edu	37	9	86153116	86153116	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YJ-01A-11D-A34A-08	TCGA-E1-A7YJ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654fabe2-2ea1-41b5-aa4e-4df8b97d7552	b2b78f2f-604d-42fd-983e-42d431e68e4e	g.chr9:86153116C>T	ENST00000304195.3	-	1	237	c.31G>A	c.(31-33)Ggc>Agc	p.G11S	FRMD3_ENST00000376438.1_Missense_Mutation_p.G11S	NM_001244960.1|NM_174938.5	NP_001231889.1|NP_777598.3	A2A2Y4	FRMD3_HUMAN	FERM domain containing 3	11						cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane	cytoskeletal protein binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	30						GTCCTCCTGCCTCTCGGCACA	0.652													4	7					0	0	1	0	0	T	86153116	C	T	86153116	3	4	167	1	0	0	0	0	1	0	0	0	6085	681	24	2	1818	2	FRMD3	9	86153116	Missense_Mutation	SNP	C	TCGA-E1-A7YJ-01A-11D-A34A-08	58983514	86153116	55060315	29	23502											
CCAR1	55749	broad.mit.edu	37	10	70509372	70509372	+	Nonsense_Mutation	SNP	C	C	T			TCGA-E1-A7YJ-01A-11D-A34A-08	TCGA-E1-A7YJ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654fabe2-2ea1-41b5-aa4e-4df8b97d7552	b2b78f2f-604d-42fd-983e-42d431e68e4e	g.chr10:70509372C>T	ENST00000265872.6	+	10	1167	c.1048C>T	c.(1048-1050)Cga>Tga	p.R350*	CCAR1_ENST00000535016.1_Nonsense_Mutation_p.R335*|CCAR1_ENST00000543719.1_Nonsense_Mutation_p.R335*	NM_001282959.1|NM_001282960.1|NM_018237.2	NP_001269888.1|NP_001269889.1|NP_060707.2	Q8IX12	CCAR1_HUMAN	cell division cycle and apoptosis regulator 1	350	Arg-rich.				apoptosis|cell cycle|nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm|perinuclear region of cytoplasm	calcium ion binding|nucleic acid binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(7)|skin(3)	56						AGAGCGAGAGCGATCACCTCG	0.463													39	28					0	0	1	0	0	T	70509372	C	T	70509372	4	4	167	1	0	0	0	0	0	1	0	0	2748	760	27	1	1082	1	CCAR1	10	70509372	Nonsense_Mutation	SNP	C	TCGA-E1-A7YJ-01A-11D-A34A-08		70509372	65025375	30	23503											
BAG3	9531	broad.mit.edu	37	10	121429423	121429423	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YJ-01A-11D-A34A-08	TCGA-E1-A7YJ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654fabe2-2ea1-41b5-aa4e-4df8b97d7552	b2b78f2f-604d-42fd-983e-42d431e68e4e	g.chr10:121429423G>A	ENST00000369085.3	+	2	547	c.241G>A	c.(241-243)Gaa>Aaa	p.E81K		NM_004281.3	NP_004272.2	O95817	BAG3_HUMAN	BCL2-associated athanogene 3	81					anti-apoptosis|apoptosis|protein folding	cytosol				endometrium(3)|kidney(1)|large_intestine(3)|liver(2)|lung(5)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	20		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00187)|BRCA - Breast invasive adenocarcinoma(275;0.148)		GCCTGCTAGGGAAGGCCACCC	0.572													42	25					0	0	1	0	0	A	121429423	G	A	121429423	3	1	167	1	0	0	0	0	1	0	0	0	1286	1175	41	2	247	2	BAG3	10	121429423	Missense_Mutation	SNP	G	TCGA-E1-A7YJ-01A-11D-A34A-08	50920051	121429423	14105324	31	23504											
PRPF19	27339	broad.mit.edu	37	11	60658695	60658695	+	Silent	SNP	G	G	A			TCGA-E1-A7YJ-01A-11D-A34A-08	TCGA-E1-A7YJ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654fabe2-2ea1-41b5-aa4e-4df8b97d7552	b2b78f2f-604d-42fd-983e-42d431e68e4e	g.chr11:60658695G>A	ENST00000227524.4	-	16	1663	c.1458C>T	c.(1456-1458)caC>caT	p.H486H		NM_014502.4	NP_055317.1	Q9UMS4	PRP19_HUMAN	pre-mRNA processing factor 19	486					DNA repair|protein polyubiquitination|spliceosome assembly	catalytic step 2 spliceosome|nuclear speck|spindle|ubiquitin ligase complex	DNA binding|identical protein binding|ubiquitin-ubiquitin ligase activity	p.H486H(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1)	22						TGAACTTGGCGTGATGCCCGA	0.542													14	23					0	0	1	0	0	A	60658695	G	A	60658695	2	1	167	1	0	0	0	0	0	0	0	1	12616	1136	40	1		1	PRPF19	11	60658695	Silent	SNP	G	TCGA-E1-A7YJ-01A-11D-A34A-08		60658695	74347821	32	23505											
WNK1	65125	broad.mit.edu	37	12	977319	977319	+	Silent	SNP	A	A	G			TCGA-E1-A7YJ-01A-11D-A34A-08	TCGA-E1-A7YJ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654fabe2-2ea1-41b5-aa4e-4df8b97d7552	b2b78f2f-604d-42fd-983e-42d431e68e4e	g.chr12:977319A>G	ENST00000537687.1	+	9	3070	c.2427A>G	c.(2425-2427)gtA>gtG	p.V809V	WNK1_ENST00000535572.1_Intron|WNK1_ENST00000574564.1_Silent_p.V108V|WNK1_ENST00000315939.6_Intron|WNK1_ENST00000530271.2_Silent_p.V894V|WNK1_ENST00000340908.4_Intron	NM_001184985.1|NM_213655.4	NP_001171914.1|NP_998820.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	0					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			CCAGTAGAGTAACTGGAGAGT	0.478													19	37					0	0	1	0	0	G	977319	A	G	977319	2	3	167	1	0	0	0	0	0	0	0	1	17437	349	13	3		3	WNK1	12	977319	Silent	SNP	A	TCGA-E1-A7YJ-01A-11D-A34A-08		977319	132874576	33	23506											
KRT5	3852	broad.mit.edu	37	12	52910609	52910609	+	Silent	SNP	G	G	A			TCGA-E1-A7YJ-01A-11D-A34A-08	TCGA-E1-A7YJ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654fabe2-2ea1-41b5-aa4e-4df8b97d7552	b2b78f2f-604d-42fd-983e-42d431e68e4e	g.chr12:52910609G>A	ENST00000252242.4	-	7	1641	c.1251C>T	c.(1249-1251)gcC>gcT	p.A417A		NM_000424.3	NP_000415.2	P13647	K2C5_HUMAN	keratin 5	417	Coil 2.|Rod.				epidermis development|hemidesmosome assembly	cytosol|keratin filament	protein binding|structural constituent of cytoskeleton			endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2)	35				BRCA - Breast invasive adenocarcinoma(357;0.189)		CACGCTGCTCGGCATCCGCAA	0.617													37	57					0	0	1	0	0	A	52910609	G	A	52910609	2	1	167	1	0	0	0	0	0	0	0	1	8522	1103	39	1		1	KRT5	12	52910609	Silent	SNP	G	TCGA-E1-A7YJ-01A-11D-A34A-08	51933290	52910609	80941286	34	23507											
CUX2	23316	broad.mit.edu	37	12	111758395	111758395	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YJ-01A-11D-A34A-08	TCGA-E1-A7YJ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654fabe2-2ea1-41b5-aa4e-4df8b97d7552	b2b78f2f-604d-42fd-983e-42d431e68e4e	g.chr12:111758395C>T	ENST00000261726.6	+	17	2736	c.2582C>T	c.(2581-2583)gCg>gTg	p.A861V		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	861						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						ACGGCCGAGGCGGGCGCGCGG	0.746													4	2					0	0	1	0	0	T	111758395	C	T	111758395	3	4	167	1	0	0	0	0	1	0	0	0	4088	768	27	1	2648	1	CUX2	12	111758395	Missense_Mutation	SNP	C	TCGA-E1-A7YJ-01A-11D-A34A-08	58847786	111758395	22093500	35	23508											
RIMBP2	23504	broad.mit.edu	37	12	130927095	130927095	+	Missense_Mutation	SNP	A	A	T			TCGA-E1-A7YJ-01A-11D-A34A-08	TCGA-E1-A7YJ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654fabe2-2ea1-41b5-aa4e-4df8b97d7552	b2b78f2f-604d-42fd-983e-42d431e68e4e	g.chr12:130927095A>T	ENST00000261655.4	-	8	914	c.751T>A	c.(751-753)Ttc>Atc	p.F251I	RIMBP2_ENST00000536002.1_Missense_Mutation_p.F159I|RIMBP2_ENST00000535703.1_Missense_Mutation_p.F159I	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	251						cell junction|synapse				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		TGGTTGATGAAGTTCTGATCC	0.607													8	82					0	0	1	0	0	T	130927095	A	T	130927095	3	4	167	1	0	0	0	0	1	0	0	0	13413	72	3	5	2455	5	RIMBP2	12	130927095	Missense_Mutation	SNP	A	TCGA-E1-A7YJ-01A-11D-A34A-08	19168700	130927095	2924800	36	23509											
WDR20	91833	broad.mit.edu	37	14	102676161	102676162	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-E1-A7YJ-01A-11D-A34A-08	TCGA-E1-A7YJ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654fabe2-2ea1-41b5-aa4e-4df8b97d7552	b2b78f2f-604d-42fd-983e-42d431e68e4e	g.chr14:102676161_102676162delGA	ENST00000335263.5	+	3	1734_1735	c.1654_1655delGA	c.(1654-1656)gagfs	p.E552fs	WDR20_ENST00000454394.2_Frame_Shift_Del_p.E583fs|WDR20_ENST00000322340.5_Intron|WDR20_ENST00000299135.6_3'UTR|WDR20_ENST00000556807.1_Frame_Shift_Del_p.E491fs|WDR20_ENST00000556511.2_Frame_Shift_Del_p.E491fs|WDR20_ENST00000424963.2_Frame_Shift_Del_p.E428fs|WDR20_ENST00000545563.1_Frame_Shift_Del_p.E379fs|WDR20_ENST00000342702.3_Frame_Shift_Del_p.E552fs|WDR20_ENST00000499851.2_Frame_Shift_Del_p.E295fs	NM_181291.2	NP_851808.1	Q8TBZ3	WDR20_HUMAN	WD repeat domain 20	552										breast(1)|large_intestine(2)|lung(4)|prostate(1)	8						TGCTTGTCAGGAGGGATTTATT	0.391													36	51	---	---	---	---						-	102676162	GA	-	102676161	7	5	167	1	0	1	0	1	0	0	0	0	17340	1175	41	0	1681	0	WDR20	14	102676161	Frame_Shift_Del	DEL	GA	TCGA-E1-A7YJ-01A-11D-A34A-08		102676161	4673379	37	23510											
ODF3L1	161753	broad.mit.edu	37	15	76018478	76018478	+	Silent	SNP	G	G	A			TCGA-E1-A7YJ-01A-11D-A34A-08	TCGA-E1-A7YJ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654fabe2-2ea1-41b5-aa4e-4df8b97d7552	b2b78f2f-604d-42fd-983e-42d431e68e4e	g.chr15:76018478G>A	ENST00000332145.2	+	3	532	c.309G>A	c.(307-309)ccG>ccA	p.P103P		NM_175881.3	NP_787077.1	Q8IXM7	OD3L1_HUMAN	outer dense fiber of sperm tails 3-like 1	103										kidney(1)|lung(1)	2						CCAGCTGCCCGCAGGTCCCCA	0.592													9	14					0	0	1	0	0	A	76018478	G	A	76018478	2	1	167	1	0	0	0	0	0	0	0	1	10879	1074	38	1		1	ODF3L1	15	76018478	Silent	SNP	G	TCGA-E1-A7YJ-01A-11D-A34A-08		76018478	26512914	38	23511											
AGBL1	123624	broad.mit.edu	37	15	86940658	86940658	+	Nonsense_Mutation	SNP	G	G	A			TCGA-E1-A7YJ-01A-11D-A34A-08	TCGA-E1-A7YJ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654fabe2-2ea1-41b5-aa4e-4df8b97d7552	b2b78f2f-604d-42fd-983e-42d431e68e4e	g.chr15:86940658G>A	ENST00000441037.2	+	17	2393	c.2298G>A	c.(2296-2298)tgG>tgA	p.W766*	AGBL1_ENST00000389298.3_Nonsense_Mutation_p.W497*|AGBL1_ENST00000421325.2_Nonsense_Mutation_p.W766*	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	766					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						ATGCCAGTTGGGTGATGAAGG	0.473													21	30					0	0	1	0	0	A	86940658	G	A	86940658	4	1	167	1	0	0	0	0	0	1	0	0	372	1241	43	2	2360	2	AGBL1	15	86940658	Nonsense_Mutation	SNP	G	TCGA-E1-A7YJ-01A-11D-A34A-08	10922180	86940658	15590734	39	23512											
NDRG4	65009	broad.mit.edu	37	16	58545427	58545427	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YJ-01A-11D-A34A-08	TCGA-E1-A7YJ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654fabe2-2ea1-41b5-aa4e-4df8b97d7552	b2b78f2f-604d-42fd-983e-42d431e68e4e	g.chr16:58545427G>A	ENST00000394282.4	+	16	1530	c.1123G>A	c.(1123-1125)Gag>Aag	p.E375K	NDRG4_ENST00000258187.5_Missense_Mutation_p.E355K|NDRG4_ENST00000569923.1_Missense_Mutation_p.E268K|NDRG4_ENST00000566192.1_Missense_Mutation_p.E323K|NDRG4_ENST00000562999.1_Missense_Mutation_p.E311K|NDRG4_ENST00000563799.1_Missense_Mutation_p.E341K|NDRG4_ENST00000394279.2_Missense_Mutation_p.E355K|NDRG4_ENST00000356752.4_Missense_Mutation_p.E353K|NDRG4_ENST00000570248.1_Missense_Mutation_p.E336K|NDRG4_ENST00000568640.1_Missense_Mutation_p.E341K	NM_001130487.1	NP_001123959.1	Q9ULP0	NDRG4_HUMAN	NDRG family member 4	336					cell differentiation|cell growth|multicellular organismal development|response to stress	cytoplasm				breast(1)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	11						CACCCACTCAGAGAGCAGCGA	0.682													26	42					0	0	1	0	0	A	58545427	G	A	58545427	3	1	167	1	0	0	0	0	1	0	0	0	10301	943	33	2	1185	2	NDRG4	16	58545427	Missense_Mutation	SNP	G	TCGA-E1-A7YJ-01A-11D-A34A-08		58545427	31809326	40	23513											
PLEKHG4	25894	broad.mit.edu	37	16	67318812	67318812	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YJ-01A-11D-A34A-08	TCGA-E1-A7YJ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654fabe2-2ea1-41b5-aa4e-4df8b97d7552	b2b78f2f-604d-42fd-983e-42d431e68e4e	g.chr16:67318812C>T	ENST00000360461.5	+	12	4424	c.1889C>T	c.(1888-1890)gCg>gTg	p.A630V	PLEKHG4_ENST00000379344.3_Missense_Mutation_p.A630V|PLEKHG4_ENST00000450733.1_Missense_Mutation_p.A549V|PLEKHG4_ENST00000427155.2_Missense_Mutation_p.A630V	NM_001129727.1|NM_015432.3	NP_001123199.1|NP_056247.1	Q58EX7	PKHG4_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4	630					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119)		TGGGCCTGGGCGCGGTGCCAG	0.662													12	26					0	0	1	0	0	T	67318812	C	T	67318812	3	4	167	1	0	0	0	0	1	0	0	0	12119	768	27	1	1935	1	PLEKHG4	16	67318812	Missense_Mutation	SNP	C	TCGA-E1-A7YJ-01A-11D-A34A-08	8773385	67318812	23035941	41	23514											
FBXO31	79791	broad.mit.edu	37	16	87377354	87377354	+	Silent	SNP	G	G	A			TCGA-E1-A7YJ-01A-11D-A34A-08	TCGA-E1-A7YJ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654fabe2-2ea1-41b5-aa4e-4df8b97d7552	b2b78f2f-604d-42fd-983e-42d431e68e4e	g.chr16:87377354G>A	ENST00000311635.7	-	4	519	c.507C>T	c.(505-507)atC>atT	p.I169I		NM_001282683.1|NM_024735.3	NP_001269612.1|NP_079011.3	Q5XUX0	FBX31_HUMAN	F-box protein 31	169					cell cycle|cyclin catabolic process|mitotic cell cycle G1/S transition DNA damage checkpoint|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	SCF ubiquitin ligase complex	cyclin binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	17				BRCA - Breast invasive adenocarcinoma(80;0.0272)		TCCACCCGATGATGAACAGGC	0.617													16	26					0	0	1	0	0	A	87377354	G	A	87377354	2	1	167	1	0	0	0	0	0	0	0	1	5774	1280	45	2		2	FBXO31	16	87377354	Silent	SNP	G	TCGA-E1-A7YJ-01A-11D-A34A-08	20058542	87377354	2977399	42	23515											
YBX2	51087	broad.mit.edu	37	17	7192121	7192121	+	Missense_Mutation	SNP	T	T	G			TCGA-E1-A7YJ-01A-11D-A34A-08	TCGA-E1-A7YJ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654fabe2-2ea1-41b5-aa4e-4df8b97d7552	b2b78f2f-604d-42fd-983e-42d431e68e4e	g.chr17:7192121T>G	ENST00000007699.5	-	8	1144	c.1081A>C	c.(1081-1083)Acc>Ccc	p.T361P		NM_015982.3	NP_057066.2	Q9Y2T7	YBOX2_HUMAN	Y box binding protein 2	361	Required for mRNA-binding.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter|translational attenuation	cytoplasm|nucleus	DNA binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|skin(3)	12						TCCAGGATGGTGGTGGTGGGG	0.542													4	42					0	0	1	0	0	G	7192121	T	G	7192121	3	3	167	1	0	0	0	0	1	0	0	0	17530	1696	59	5	17	5	YBX2	17	7192121	Missense_Mutation	SNP	T	TCGA-E1-A7YJ-01A-11D-A34A-08		7192121	74003089	43	23516											
CWC25	54883	broad.mit.edu	37	17	36959088	36959088	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YJ-01A-11D-A34A-08	TCGA-E1-A7YJ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654fabe2-2ea1-41b5-aa4e-4df8b97d7552	b2b78f2f-604d-42fd-983e-42d431e68e4e	g.chr17:36959088C>T	ENST00000225428.5	-	9	1325	c.1028G>A	c.(1027-1029)cGa>cAa	p.R343Q	CWC25_ENST00000536127.1_Missense_Mutation_p.R280Q	NM_017748.3	NP_060218.1	Q9NXE8	CWC25_HUMAN	CWC25 spliceosome-associated protein homolog (S. cerevisiae)											central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	14						TTGCCGTTTTCGCTCTAATTC	0.483													30	48					0	0	1	0	0	T	36959088	C	T	36959088	3	4	167	1	0	0	0	0	1	0	0	0	4092	884	31	1	257	1	CWC25	17	36959088	Missense_Mutation	SNP	C	TCGA-E1-A7YJ-01A-11D-A34A-08	29766967	36959088	44236122	44	23517											
KRT34	3885	broad.mit.edu	37	17	39538446	39538446	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YJ-01A-11D-A34A-08	TCGA-E1-A7YJ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654fabe2-2ea1-41b5-aa4e-4df8b97d7552	b2b78f2f-604d-42fd-983e-42d431e68e4e	g.chr17:39538446G>A	ENST00000394001.1	-	1	209	c.179C>T	c.(178-180)tCc>tTc	p.S60F		NM_021013.3	NP_066293.2	O76011	KRT34_HUMAN	keratin 34	60	Head.				epidermis development	intermediate filament	protein binding|structural molecule activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Breast(137;0.000496)				GCAGGGCCGGGAGGAGCAGCT	0.627													27	57					0	0	1	0	0	A	39538446	G	A	39538446	3	1	167	1	0	0	0	0	1	0	0	0	8514	1174	41	2	1159	2	KRT34	17	39538446	Missense_Mutation	SNP	G	TCGA-E1-A7YJ-01A-11D-A34A-08	2579358	39538446	41656764	45	23518											
KCNH6	81033	broad.mit.edu	37	17	61613107	61613107	+	Silent	SNP	C	C	T			TCGA-E1-A7YJ-01A-11D-A34A-08	TCGA-E1-A7YJ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654fabe2-2ea1-41b5-aa4e-4df8b97d7552	b2b78f2f-604d-42fd-983e-42d431e68e4e	g.chr17:61613107C>T	ENST00000583023.1	+	6	1190	c.1179C>T	c.(1177-1179)taC>taT	p.Y393Y	KCNH6_ENST00000456941.2_Silent_p.Y393Y|KCNH6_ENST00000580652.1_Silent_p.Y393Y|KCNH6_ENST00000314672.5_Silent_p.Y393Y|KCNH6_ENST00000581784.1_Silent_p.Y393Y	NM_030779.2	NP_110406.1	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 6	393					regulation of transcription, DNA-dependent|signal transduction					breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Ibutilide(DB00308)	TGGACCGCTACTCTGAGTATG	0.607													28	42					0	0	1	0	0	T	61613107	C	T	61613107	2	4	167	1	0	0	0	0	0	0	0	1	8080	576	20	2		2	KCNH6	17	61613107	Silent	SNP	C	TCGA-E1-A7YJ-01A-11D-A34A-08	22074661	61613107	19582103	46	23519											
DNAH17	8632	broad.mit.edu	37	17	76503840	76503840	+	Silent	SNP	G	G	A			TCGA-E1-A7YJ-01A-11D-A34A-08	TCGA-E1-A7YJ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654fabe2-2ea1-41b5-aa4e-4df8b97d7552	b2b78f2f-604d-42fd-983e-42d431e68e4e	g.chr17:76503840G>A	ENST00000389840.5	-	28	4396	c.4272C>T	c.(4270-4272)caC>caT	p.H1424H	DNAH17_ENST00000585328.1_Silent_p.H1425H					dynein, axonemal, heavy chain 17									p.H1425H(1)		NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			GGTGCGGCTCGTGCTGGAATT	0.552													5	5					0	0	1	0	0	A	76503840	G	A	76503840	2	1	167	1	0	0	0	0	0	0	0	1	4629	1136	40	1		1	DNAH17	17	76503840	Silent	SNP	G	TCGA-E1-A7YJ-01A-11D-A34A-08	14890733	76503840	4691370	47	23520											
SERPINB2	5055	broad.mit.edu	37	18	61558848	61558848	+	Splice_Site	SNP	T	T	A			TCGA-E1-A7YJ-01A-11D-A34A-08	TCGA-E1-A7YJ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654fabe2-2ea1-41b5-aa4e-4df8b97d7552	b2b78f2f-604d-42fd-983e-42d431e68e4e	g.chr18:61558848T>A	ENST00000457692.1	+	3	501		c.e3+2		SERPINB2_ENST00000299502.4_Splice_Site	NM_001143818.1	NP_001137290.1	P05120	PAI2_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 2						anti-apoptosis|blood coagulation|fibrinolysis|regulation of proteolysis	extracellular space|Golgi apparatus|plasma membrane	serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|liver(1)|lung(12)|prostate(2)|skin(2)|stomach(1)	32		Esophageal squamous(42;0.131)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)	ATGGCCAAGGTGAGTTTGAGC	0.522													14	26					0	0	1	0	0	A	61558848	T	A	61558848	5	1	167	1	0	0	0	0	0	0	1	0	14155	1710	59	5	172	5	SERPINB2	18	61558848	Splice_Site	SNP	T	TCGA-E1-A7YJ-01A-11D-A34A-08		61558848	16518400	48	23521											
CEACAM8	1088	broad.mit.edu	37	19	43098946	43098946	+	Missense_Mutation	SNP	C	C	T	rs143763173		TCGA-E1-A7YJ-01A-11D-A34A-08	TCGA-E1-A7YJ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654fabe2-2ea1-41b5-aa4e-4df8b97d7552	b2b78f2f-604d-42fd-983e-42d431e68e4e	g.chr19:43098946C>T	ENST00000244336.5	-	1	136	c.35G>A	c.(34-36)cGc>cAc	p.R12H	LIPE-AS1_ENST00000594624.2_RNA|LIPE-AS1_ENST00000594688.1_RNA|CEACAM8_ENST00000599005.1_Missense_Mutation_p.R12H	NM_001816.3	NP_001807.2	P31997	CEAM8_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 8	12					immune response	anchored to membrane|extracellular space|integral to plasma membrane				endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	16		Prostate(69;0.00899)				CCAGGGGATGCGCCATCTGCA	0.612													5	167					0	0	1	0	0	T	43098946	C	T	43098946	3	4	167	1	0	0	0	0	1	0	0	0	3220	768	27	1	1034	1	CEACAM8	19	43098946	Missense_Mutation	SNP	C	TCGA-E1-A7YJ-01A-11D-A34A-08		43098946	16030037	49	23522											
CCDC8	83987	broad.mit.edu	37	19	46915004	46915004	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YJ-01A-11D-A34A-08	TCGA-E1-A7YJ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654fabe2-2ea1-41b5-aa4e-4df8b97d7552	b2b78f2f-604d-42fd-983e-42d431e68e4e	g.chr19:46915004G>A	ENST00000307522.3	-	1	1837	c.1064C>T	c.(1063-1065)gCt>gTt	p.A355V		NM_032040.4	NP_114429.2	Q9H0W5	CCDC8_HUMAN	coiled-coil domain containing 8	355						plasma membrane				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421)		GTTATCTGCAGCCTCTGCCCC	0.617													51	150					0	0	1	0	0	A	46915004	G	A	46915004	3	1	167	1	0	0	0	0	1	0	0	0	2873	971	34	2	556	2	CCDC8	19	46915004	Missense_Mutation	SNP	G	TCGA-E1-A7YJ-01A-11D-A34A-08	3816058	46915004	12213979	50	23523											
SLC17A7	57030	broad.mit.edu	37	19	49934335	49934335	+	Silent	SNP	G	G	A			TCGA-E1-A7YJ-01A-11D-A34A-08	TCGA-E1-A7YJ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654fabe2-2ea1-41b5-aa4e-4df8b97d7552	b2b78f2f-604d-42fd-983e-42d431e68e4e	g.chr19:49934335G>A	ENST00000221485.3	-	11	1497	c.1326C>T	c.(1324-1326)aaC>aaT	p.N442N	SLC17A7_ENST00000543531.1_Silent_p.N430N|SLC17A7_ENST00000600601.1_Silent_p.N375N	NM_020309.3	NP_064705.1	Q9P2U7	VGLU1_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 7	442					glutamate secretion|neurotransmitter secretion	cell junction|clathrin sculpted glutamate transport vesicle membrane|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|sodium-dependent phosphate transmembrane transporter activity|sodium:inorganic phosphate symporter activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	26		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(486;0.0245)		TGCCCACGCCGTTGGAGATGC	0.622													8	29					0	0	1	0	0	A	49934335	G	A	49934335	2	1	167	1	0	0	0	0	0	0	0	1	14477	1136	40	1		1	SLC17A7	19	49934335	Silent	SNP	G	TCGA-E1-A7YJ-01A-11D-A34A-08	3019331	49934335	9194648	51	23524											
EPN1	29924	broad.mit.edu	37	19	56190168	56190168	+	Missense_Mutation	SNP	A	A	G			TCGA-E1-A7YJ-01A-11D-A34A-08	TCGA-E1-A7YJ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654fabe2-2ea1-41b5-aa4e-4df8b97d7552	b2b78f2f-604d-42fd-983e-42d431e68e4e	g.chr19:56190168A>G	ENST00000411543.2	+	3	1055	c.508A>G	c.(508-510)Atg>Gtg	p.M170V	EPN1_ENST00000270460.6_Missense_Mutation_p.M59V|EPN1_ENST00000085079.7_Missense_Mutation_p.M59V	NM_001130071.1	NP_001123543.1	Q9Y6I3	EPN1_HUMAN	epsin 1	59					endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	coated pit|cytoplasm|nucleus|plasma membrane	lipid binding			endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|skin(1)	17		Colorectal(82;0.00244)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.112)		GATCATGAGCATGATCTGGAA	0.592													13	50					0	0	1	0	0	G	56190168	A	G	56190168	3	3	167	1	0	0	0	0	1	0	0	0	5213	217	8	3	518	3	EPN1	19	56190168	Missense_Mutation	SNP	A	TCGA-E1-A7YJ-01A-11D-A34A-08	6255833	56190168	2938815	52	23525											
EDEM2	55741	broad.mit.edu	37	20	33703560	33703560	+	Nonsense_Mutation	SNP	G	G	T			TCGA-E1-A7YJ-01A-11D-A34A-08	TCGA-E1-A7YJ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654fabe2-2ea1-41b5-aa4e-4df8b97d7552	b2b78f2f-604d-42fd-983e-42d431e68e4e	g.chr20:33703560G>T	ENST00000374492.3	-	11	1518	c.1413C>A	c.(1411-1413)taC>taA	p.Y471*	EDEM2_ENST00000374491.3_Nonsense_Mutation_p.Y434*|EDEM2_ENST00000541621.1_Nonsense_Mutation_p.Y250*|EDEM2_ENST00000542871.1_Nonsense_Mutation_p.Y195*	NM_018217.2	NP_060687.2	Q9BV94	EDEM2_HUMAN	ER degradation enhancer, mannosidase alpha-like 2	471					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	22			BRCA - Breast invasive adenocarcinoma(18;0.00936)			TGTTGAAGATGTACCCCCCAG	0.587													22	66					4.35082e-09	4.55476e-09	1	1	0	T	33703560	G	T	33703560	4	4	167	1	0	0	0	0	0	1	0	0	4938	1372	48	5	327	5	EDEM2	20	33703560	Nonsense_Mutation	SNP	G	TCGA-E1-A7YJ-01A-11D-A34A-08		33703560	29321960	53	23526											
MATN4	8785	broad.mit.edu	37	20	43926951	43926951	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YJ-01A-11D-A34A-08	TCGA-E1-A7YJ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654fabe2-2ea1-41b5-aa4e-4df8b97d7552	b2b78f2f-604d-42fd-983e-42d431e68e4e	g.chr20:43926951G>A	ENST00000537548.1	-	8	1529	c.1285C>T	c.(1285-1287)Cgg>Tgg	p.R429W	MATN4_ENST00000353917.5_Missense_Mutation_p.R347W|MATN4_ENST00000372756.1_Missense_Mutation_p.R429W|MATN4_ENST00000342716.4_Missense_Mutation_p.R429W|MATN4_ENST00000372754.1_Missense_Mutation_p.R470W|MATN4_ENST00000360607.6_Missense_Mutation_p.R388W|MATN4_ENST00000372751.4_Missense_Mutation_p.R280W			O95460	MATN4_HUMAN	matrilin 4	470	VWFA 2.					extracellular region	protein binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.0122)				ACCATGTGCCGCAACGCCAGC	0.672													21	28					0	0	1	0	0	A	43926951	G	A	43926951	3	1	167	1	0	0	0	0	1	0	0	0	9386	1086	38	1	476	1	MATN4	20	43926951	Missense_Mutation	SNP	G	TCGA-E1-A7YJ-01A-11D-A34A-08	10223391	43926951	19098569	54	23527											
RAB36	9609	broad.mit.edu	37	22	23503697	23503697	+	Silent	SNP	G	G	T			TCGA-E1-A7YJ-01A-11D-A34A-08	TCGA-E1-A7YJ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654fabe2-2ea1-41b5-aa4e-4df8b97d7552	b2b78f2f-604d-42fd-983e-42d431e68e4e	g.chr22:23503697G>T	ENST00000263116.2	+	11	988	c.948G>T	c.(946-948)ggG>ggT	p.G316G	RAB36_ENST00000341989.4_Silent_p.G294G	NM_004914.2	NP_004905.2	O95755	RAB36_HUMAN	RAB36, member RAS oncogene family	316					protein transport|small GTPase mediated signal transduction	Golgi membrane	GTP binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.155)		AAATGGAAGGGAGTCCGCCCG	0.607													3	15					0.217242	0.217242	1	1	0	T	23503697	G	T	23503697	2	4	167	1	0	0	0	0	0	0	0	1	12978	1161	41	5		5	RAB36	22	23503697	Silent	SNP	G	TCGA-E1-A7YJ-01A-11D-A34A-08		23503697	27800869	55	23528											
GRHL3	57822	broad.mit.edu	37	1	24664502	24664502	+	Silent	SNP	C	C	T			TCGA-E1-A7YK-01A-11D-A34A-08	TCGA-E1-A7YK-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b1cdb2e-1f87-4f81-b2e1-ccf5b7a821ac	da6047b6-cbe7-4459-a498-06489d228a5f	g.chr1:24664502C>T	ENST00000361548.4	+	7	1091	c.861C>T	c.(859-861)ttC>ttT	p.F287F	GRHL3_ENST00000356046.2_Silent_p.F241F|GRHL3_ENST00000342072.4_Silent_p.F194F|GRHL3_ENST00000236255.4_Silent_p.F292F|GRHL3_ENST00000350501.5_Silent_p.F287F	NM_198173.2	NP_937816.1	Q8TE85	GRHL3_HUMAN	grainyhead-like 3 (Drosophila)	287					regulation of actin cytoskeleton organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143)		TGGTTGTCTTCGACAATGAGA	0.572													7	71					0	0	1	0	0	T	24664502	C	T	24664502	2	4	168	1	0	0	0	0	0	0	0	1	6806	883	31	1		1	GRHL3	1	24664502	Silent	SNP	C	TCGA-E1-A7YK-01A-11D-A34A-08		24664502	224586119	1	23529											
ZCCHC11	23318	broad.mit.edu	37	1	52891127	52891127	+	Silent	SNP	A	A	G			TCGA-E1-A7YK-01A-11D-A34A-08	TCGA-E1-A7YK-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b1cdb2e-1f87-4f81-b2e1-ccf5b7a821ac	da6047b6-cbe7-4459-a498-06489d228a5f	g.chr1:52891127A>G	ENST00000371544.3	-	29	5023	c.4761T>C	c.(4759-4761)cgT>cgC	p.R1587R	ZCCHC11_ENST00000257177.4_Silent_p.R1588R	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11	1587	Pro-rich.				miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance	cytoplasm|nucleolus	nucleic acid binding|protein binding|RNA uridylyltransferase activity|zinc ion binding			NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						GGAAATGGGGACGCGGTGCAT	0.463													6	39					0	0	1	0	0	G	52891127	A	G	52891127	2	3	168	1	0	0	0	0	0	0	0	1	17639	262	10	3		3	ZCCHC11	1	52891127	Silent	SNP	A	TCGA-E1-A7YK-01A-11D-A34A-08	28226625	52891127	196359494	2	23530											
DRAM2	128338	broad.mit.edu	37	1	111674063	111674063	+	Silent	SNP	C	C	T			TCGA-E1-A7YK-01A-11D-A34A-08	TCGA-E1-A7YK-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b1cdb2e-1f87-4f81-b2e1-ccf5b7a821ac	da6047b6-cbe7-4459-a498-06489d228a5f	g.chr1:111674063C>T	ENST00000286692.4	-	3	731	c.114G>A	c.(112-114)ccG>ccA	p.P38P	DRAM2_ENST00000539140.1_Silent_p.P38P|DRAM2_ENST00000484310.1_5'UTR			Q6UX65	DRAM2_HUMAN	DNA-damage regulated autophagy modulator 2	38					apoptosis|induction of apoptosis	Golgi apparatus|integral to membrane|lysosomal membrane				endometrium(1)|large_intestine(5)|lung(3)	9						AAGGTAAAGCCGGGTCTATAT	0.368													27	84					0	0	1	0	0	T	111674063	C	T	111674063	2	4	168	1	0	0	0	0	0	0	0	1	4780	639	23	1		1	DRAM2	1	111674063	Silent	SNP	C	TCGA-E1-A7YK-01A-11D-A34A-08	58782936	111674063	137576558	3	23531											
FLG2	388698	broad.mit.edu	37	1	152325478	152325478	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YK-01A-11D-A34A-08	TCGA-E1-A7YK-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b1cdb2e-1f87-4f81-b2e1-ccf5b7a821ac	da6047b6-cbe7-4459-a498-06489d228a5f	g.chr1:152325478C>T	ENST00000388718.5	-	3	4856	c.4784G>A	c.(4783-4785)cGa>cAa	p.R1595Q	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1595							calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGTGTGTTCTCGTGAGTGTGG	0.512													77	136					0	0	1	0	0	T	152325478	C	T	152325478	3	4	168	1	0	0	0	0	1	0	0	0	5956	884	31	1	2395	1	FLG2	1	152325478	Missense_Mutation	SNP	C	TCGA-E1-A7YK-01A-11D-A34A-08	40651415	152325478	96925143	4	23532											
SLAMF7	57823	broad.mit.edu	37	1	160719820	160719820	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YK-01A-11D-A34A-08	TCGA-E1-A7YK-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b1cdb2e-1f87-4f81-b2e1-ccf5b7a821ac	da6047b6-cbe7-4459-a498-06489d228a5f	g.chr1:160719820G>A	ENST00000368043.3	+	3	623	c.586G>A	c.(586-588)Gtt>Att	p.V196I	SLAMF7_ENST00000441662.2_Intron|SLAMF7_ENST00000444090.2_Intron|SLAMF7_ENST00000359331.4_Missense_Mutation_p.V196I|SLAMF7_ENST00000458602.2_Missense_Mutation_p.V89I|SLAMF7_ENST00000368042.3_Missense_Mutation_p.V89I|SLAMF7_ENST00000458104.2_Missense_Mutation_p.V89I	NM_001282595.1|NM_021181.3	NP_001269524.1|NP_067004.3	Q9NQ25	SLAF7_HUMAN	SLAM family member 7	196	Ig-like C2-type.				cell adhesion|natural killer cell activation|natural killer cell mediated cytotoxicity	integral to membrane	receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(4)	24	all_cancers(52;2.63e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			CTTCATCTGCGTTGCCAGGAA	0.567													10	72					0	0	1	0	0	A	160719820	G	A	160719820	3	1	168	1	0	0	0	0	1	0	0	0	14424	1145	40	1	596	1	SLAMF7	1	160719820	Missense_Mutation	SNP	G	TCGA-E1-A7YK-01A-11D-A34A-08	8394342	160719820	88530801	5	23533											
KCNK2	3776	broad.mit.edu	37	1	215259857	215259857	+	Missense_Mutation	SNP	A	A	G			TCGA-E1-A7YK-01A-11D-A34A-08	TCGA-E1-A7YK-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b1cdb2e-1f87-4f81-b2e1-ccf5b7a821ac	da6047b6-cbe7-4459-a498-06489d228a5f	g.chr1:215259857A>G	ENST00000444842.2	+	2	343	c.193A>G	c.(193-195)Ata>Gta	p.I65V	KCNK2_ENST00000391894.2_Missense_Mutation_p.I50V|KCNK2_ENST00000391895.2_Missense_Mutation_p.I61V	NM_001017425.2|NM_014217.3	NP_001017425.2|NP_055032.1	O95069	KCNK2_HUMAN	potassium channel, subfamily K, member 2	65							outward rectifier potassium channel activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068)	Dofetilide(DB00204)	GGTCTCCACGATATTCCTGGT	0.502													3	38					0	0	1	0	0	G	215259857	A	G	215259857	3	3	168	1	0	0	0	0	1	0	0	0	8110	333	12	3	242	3	KCNK2	1	215259857	Missense_Mutation	SNP	A	TCGA-E1-A7YK-01A-11D-A34A-08	54540037	215259857	33990764	6	23534											
RYR2	6262	broad.mit.edu	37	1	237660042	237660042	+	Silent	SNP	T	T	C			TCGA-E1-A7YK-01A-11D-A34A-08	TCGA-E1-A7YK-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b1cdb2e-1f87-4f81-b2e1-ccf5b7a821ac	da6047b6-cbe7-4459-a498-06489d228a5f	g.chr1:237660042T>C	ENST00000366574.2	+	20	2510	c.2193T>C	c.(2191-2193)caT>caC	p.H731H	RYR2_ENST00000542537.1_Silent_p.H715H|RYR2_ENST00000360064.6_Silent_p.H729H	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	731	B30.2/SPRY 1.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			ATGGCCTTCATCTCTGGTCAG	0.473													4	141					0	0	1	0	0	C	237660042	T	C	237660042	2	2	168	1	0	0	0	0	0	0	0	1	13821	1432	50	3		3	RYR2	1	237660042	Silent	SNP	T	TCGA-E1-A7YK-01A-11D-A34A-08	22400185	237660042	11590579	7	23535											
MBOAT2	129642	broad.mit.edu	37	2	9000752	9000752	+	Missense_Mutation	SNP	G	G	A	rs139368884		TCGA-E1-A7YK-01A-11D-A34A-08	TCGA-E1-A7YK-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b1cdb2e-1f87-4f81-b2e1-ccf5b7a821ac	da6047b6-cbe7-4459-a498-06489d228a5f	g.chr2:9000752G>A	ENST00000305997.3	-	12	1526	c.1328C>T	c.(1327-1329)aCg>aTg	p.T443M		NM_138799.2	NP_620154.2	Q6ZWT7	MBOA2_HUMAN	membrane bound O-acyltransferase domain containing 2	443					phospholipid biosynthetic process	integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity		MBOAT2/PRKCE(2)	endometrium(2)|kidney(1)|large_intestine(9)|lung(2)|skin(1)	15	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					CCTGTAAAACGTGAGTGATGG	0.313													5	52					0	0	1	0	0	A	9000752	G	A	9000752	3	1	168	1	0	0	0	0	1	0	0	0	9407	1145	40	1	242	1	MBOAT2	2	9000752	Missense_Mutation	SNP	G	TCGA-E1-A7YK-01A-11D-A34A-08		9000752	234198621	8	23536											
STAMBP	10617	broad.mit.edu	37	2	74087264	74087264	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YK-01A-11D-A34A-08	TCGA-E1-A7YK-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b1cdb2e-1f87-4f81-b2e1-ccf5b7a821ac	da6047b6-cbe7-4459-a498-06489d228a5f	g.chr2:74087264C>T	ENST00000394070.2	+	9	1707	c.1204C>T	c.(1204-1206)Cca>Tca	p.P402S	STAMBP_ENST00000409707.1_Missense_Mutation_p.P402S|STAMBP_ENST00000486458.1_3'UTR|STAMBP_ENST00000339566.3_Missense_Mutation_p.P402S|STAMBP_ENST00000394073.1_Missense_Mutation_p.P402S	NM_213622.2	NP_998787.1	O95630	STABP_HUMAN	STAM binding protein	402					JAK-STAT cascade|positive regulation of cell proliferation	early endosome|membrane|nucleus	metal ion binding|metallopeptidase activity|protein binding			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	18						CAGCAAGGATCCACCTCTGTT	0.413													4	55					0	0	1	0	0	T	74087264	C	T	74087264	3	4	168	1	0	0	0	0	1	0	0	0	15306	855	30	2	1234	2	STAMBP	2	74087264	Missense_Mutation	SNP	C	TCGA-E1-A7YK-01A-11D-A34A-08	65086512	74087264	169112109	9	23537											
IL18R1	8809	broad.mit.edu	37	2	102988461	102988461	+	Missense_Mutation	SNP	C	C	G			TCGA-E1-A7YK-01A-11D-A34A-08	TCGA-E1-A7YK-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b1cdb2e-1f87-4f81-b2e1-ccf5b7a821ac	da6047b6-cbe7-4459-a498-06489d228a5f	g.chr2:102988461C>G	ENST00000409599.1	+	5	707	c.351C>G	c.(349-351)caC>caG	p.H117Q	IL18R1_ENST00000233957.1_Missense_Mutation_p.H117Q|IL18R1_ENST00000334376.3_Missense_Mutation_p.H117Q			Q13478	IL18R_HUMAN	interleukin 18 receptor 1	117	Ig-like C2-type 1.				innate immune response	integral to membrane|plasma membrane	interleukin-1 receptor activity			breast(1)|endometrium(3)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						GAAATAAACACAGCTGTTTCA	0.284													6	68					0	0	1	0	0	G	102988461	C	G	102988461	3	3	168	1	0	0	0	0	1	0	0	0	7691	477	17	5	361	5	IL18R1	2	102988461	Missense_Mutation	SNP	C	TCGA-E1-A7YK-01A-11D-A34A-08	28901197	102988461	140210912	10	23538											
ANAPC1	64682	broad.mit.edu	37	2	112638298	112638298	+	Missense_Mutation	SNP	C	C	G			TCGA-E1-A7YK-01A-11D-A34A-08	TCGA-E1-A7YK-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b1cdb2e-1f87-4f81-b2e1-ccf5b7a821ac	da6047b6-cbe7-4459-a498-06489d228a5f	g.chr2:112638298C>G	ENST00000341068.3	-	2	877	c.105G>C	c.(103-105)ttG>ttC	p.L35F	ANAPC1_ENST00000489177.1_5'UTR	NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	35					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						GTTGAAGGTTCAAAGCATTAG	0.488													6	37					0	0	1	0	0	G	112638298	C	G	112638298	3	3	168	1	0	0	0	0	1	0	0	0	594	825	29	5	5917	5	ANAPC1	2	112638298	Missense_Mutation	SNP	C	TCGA-E1-A7YK-01A-11D-A34A-08	9649837	112638298	130561075	11	23539											
ZEB2	9839	broad.mit.edu	37	2	145147217	145147217	+	Missense_Mutation	SNP	C	C	G			TCGA-E1-A7YK-01A-11D-A34A-08	TCGA-E1-A7YK-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b1cdb2e-1f87-4f81-b2e1-ccf5b7a821ac	da6047b6-cbe7-4459-a498-06489d228a5f	g.chr2:145147217C>G	ENST00000558170.2	-	10	4630	c.3446G>C	c.(3445-3447)gGg>gCg	p.G1149A	ZEB2_ENST00000303660.4_Missense_Mutation_p.G1149A|ZEB2_ENST00000539609.3_Missense_Mutation_p.G1125A|ZEB2_ENST00000409487.3_Missense_Mutation_p.G1149A	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	1149	Glu-rich (acidic).					cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		GCCCAGCTTCCCGTAGCCATC	0.537													12	109					0	0	1	0	0	G	145147217	C	G	145147217	3	3	168	1	0	0	0	0	1	0	0	0	17682	623	22	5	202	5	ZEB2	2	145147217	Missense_Mutation	SNP	C	TCGA-E1-A7YK-01A-11D-A34A-08	32508919	145147217	98052156	12	23540											
LRP2	4036	broad.mit.edu	37	2	170068530	170068530	+	Silent	SNP	A	A	G			TCGA-E1-A7YK-01A-11D-A34A-08	TCGA-E1-A7YK-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b1cdb2e-1f87-4f81-b2e1-ccf5b7a821ac	da6047b6-cbe7-4459-a498-06489d228a5f	g.chr2:170068530A>G	ENST00000263816.3	-	37	6513	c.6228T>C	c.(6226-6228)ttT>ttC	p.F2076F		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2076					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	ATTCCAAGCTAAAGCCTCTGA	0.453													39	75					0	0	1	0	0	G	170068530	A	G	170068530	2	3	168	1	0	0	0	0	0	0	0	1	9001	359	13	3		3	LRP2	2	170068530	Silent	SNP	A	TCGA-E1-A7YK-01A-11D-A34A-08	24921313	170068530	73130843	13	23541											
TTN	7273	broad.mit.edu	37	2	179466139	179466139	+	Missense_Mutation	SNP	C	C	G			TCGA-E1-A7YK-01A-11D-A34A-08	TCGA-E1-A7YK-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b1cdb2e-1f87-4f81-b2e1-ccf5b7a821ac	da6047b6-cbe7-4459-a498-06489d228a5f	g.chr2:179466139C>G	ENST00000589042.1	-	287	55809	c.55585G>C	c.(55585-55587)Gtc>Ctc	p.V18529L	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V9589L|TTN_ENST00000460472.2_Missense_Mutation_p.V9464L|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.V16888L|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V15961L|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V9656L|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589487.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	16888							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCTGGATTGACTTTGGTCCAG	0.458													10	45					0	0	1	0	0	G	179466139	C	G	179466139	3	3	168	1	0	0	0	0	1	0	0	0	16797	565	20	4	52412	4	TTN	2	179466139	Missense_Mutation	SNP	C	TCGA-E1-A7YK-01A-11D-A34A-08	9397609	179466139	63733234	14	23542											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-E1-A7YK-01A-11D-A34A-08	TCGA-E1-A7YK-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b1cdb2e-1f87-4f81-b2e1-ccf5b7a821ac	da6047b6-cbe7-4459-a498-06489d228a5f	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								8	53					0	0	1	0	0	T	209113112	C	T	209113112	3	4	168	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-E1-A7YK-01A-11D-A34A-08	29646973	209113112	34086261	15	23543											
BHLHE40	8553	broad.mit.edu	37	3	5024544	5024544	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YK-01A-11D-A34A-08	TCGA-E1-A7YK-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b1cdb2e-1f87-4f81-b2e1-ccf5b7a821ac	da6047b6-cbe7-4459-a498-06489d228a5f	g.chr3:5024544G>A	ENST00000256495.3	+	5	1009	c.406G>A	c.(406-408)Gaa>Aaa	p.E136K		NM_003670.2	NP_003661.1	O14503	BHE40_HUMAN	basic helix-loop-helix family, member e40	136						Golgi apparatus|nucleolus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|skin(2)	12						GAGAAATGTCGAAACAGGTCA	0.507													21	160					0	0	1	0	0	A	5024544	G	A	5024544	3	1	168	1	0	0	0	0	1	0	0	0	1422	1059	37	1	424	1	BHLHE40	3	5024544	Missense_Mutation	SNP	G	TCGA-E1-A7YK-01A-11D-A34A-08		5024544	192997886	16	23544											
THRB	7068	broad.mit.edu	37	3	24169196	24169196	+	Missense_Mutation	SNP	A	A	C			TCGA-E1-A7YK-01A-11D-A34A-08	TCGA-E1-A7YK-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b1cdb2e-1f87-4f81-b2e1-ccf5b7a821ac	da6047b6-cbe7-4459-a498-06489d228a5f	g.chr3:24169196A>C	ENST00000396671.2	-	10	1286	c.938T>G	c.(937-939)aTg>aGg	p.M313R	THRB_ENST00000356447.4_Missense_Mutation_p.M313R|THRB_ENST00000416420.1_Missense_Mutation_p.M313R|THRB_ENST00000280696.5_Missense_Mutation_p.M328R	NM_001128176.2	NP_001121648.1	P10828	THB_HUMAN	thyroid hormone receptor, beta	313	Interaction with NR2F6.|Ligand-binding.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	enzyme binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription corepressor activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(6)|pancreas(2)|prostate(1)|skin(3)	19					Levothyroxine(DB00451)|Liothyronine(DB00279)	GCGAAGGGACATGATCTCCAT	0.493													25	59					0	0	1	0	0	C	24169196	A	C	24169196	3	2	168	1	0	0	0	0	1	0	0	0	15935	217	8	4	455	4	THRB	3	24169196	Missense_Mutation	SNP	A	TCGA-E1-A7YK-01A-11D-A34A-08	19144652	24169196	173853234	17	23545											
CDCP1	64866	broad.mit.edu	37	3	45132715	45132715	+	Missense_Mutation	SNP	C	C	A			TCGA-E1-A7YK-01A-11D-A34A-08	TCGA-E1-A7YK-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b1cdb2e-1f87-4f81-b2e1-ccf5b7a821ac	da6047b6-cbe7-4459-a498-06489d228a5f	g.chr3:45132715C>A	ENST00000296129.1	-	7	2077	c.1943G>T	c.(1942-1944)gGc>gTc	p.G648V		NM_022842.3	NP_073753.3	Q9H5V8	CDCP1_HUMAN	CUB domain containing protein 1	648						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)		TAGCTGCTTGCCGCTCGTGGG	0.547													11	67					1.58986e-06	1.65181e-06	1	1	0	A	45132715	C	A	45132715	3	1	168	1	0	0	0	0	1	0	0	0	3115	739	26	5	579	5	CDCP1	3	45132715	Missense_Mutation	SNP	C	TCGA-E1-A7YK-01A-11D-A34A-08	20963519	45132715	152889715	18	23546											
SETD2	29072	broad.mit.edu	37	3	47125722	47125722	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YK-01A-11D-A34A-08	TCGA-E1-A7YK-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b1cdb2e-1f87-4f81-b2e1-ccf5b7a821ac	da6047b6-cbe7-4459-a498-06489d228a5f	g.chr3:47125722G>A	ENST00000409792.3	-	12	5590	c.5548C>T	c.(5548-5550)Cgt>Tgt	p.R1850C		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	1850					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		GTATGAGCACGCGATGTATTC	0.463			"N, F, S, Mis"		clear cell renal carcinoma								4	42					0	0	1	0	0	A	47125722	G	A	47125722	3	1	168	1	0	0	0	0	1	0	0	0	14185	1087	38	1	2186	1	SETD2	3	47125722	Missense_Mutation	SNP	G	TCGA-E1-A7YK-01A-11D-A34A-08	1993007	47125722	150896708	19	23547											
RBM47	54502	broad.mit.edu	37	4	40434728	40434728	+	Silent	SNP	G	G	A			TCGA-E1-A7YK-01A-11D-A34A-08	TCGA-E1-A7YK-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b1cdb2e-1f87-4f81-b2e1-ccf5b7a821ac	da6047b6-cbe7-4459-a498-06489d228a5f	g.chr4:40434728G>A	ENST00000319592.4	-	5	1984	c.1275C>T	c.(1273-1275)gcC>gcT	p.A425A	RBM47_ENST00000295971.7_Silent_p.A494A|RBM47_ENST00000381793.2_Silent_p.A494A|RBM47_ENST00000381795.6_Silent_p.A425A|RBM47_ENST00000515809.1_5'UTR|RBM47_ENST00000514014.1_Silent_p.A456A			A0AV96	RBM47_HUMAN	RNA binding motif protein 47	494						nucleus	nucleotide binding|RNA binding			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						ctgcggccgcggctgcggcgg	0.577													3	46					0	0	1	0	0	A	40434728	G	A	40434728	2	1	168	1	0	0	0	0	0	0	0	1	13193	1103	39	1		1	RBM47	4	40434728	Silent	SNP	G	TCGA-E1-A7YK-01A-11D-A34A-08		40434728	150719548	20	23548											
GUF1	60558	broad.mit.edu	37	4	44684369	44684369	+	Missense_Mutation	SNP	G	G	C			TCGA-E1-A7YK-01A-11D-A34A-08	TCGA-E1-A7YK-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b1cdb2e-1f87-4f81-b2e1-ccf5b7a821ac	da6047b6-cbe7-4459-a498-06489d228a5f	g.chr4:44684369G>C	ENST00000281543.5	+	5	720	c.526G>C	c.(526-528)Gta>Cta	p.V176L	GUF1_ENST00000506793.1_3'UTR	NM_021927.2	NP_068746.2	Q8N442	GUF1_HUMAN	GUF1 GTPase homolog (S. cerevisiae)	176					translation	mitochondrial inner membrane	GTP binding|GTPase activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	19						AGCCCAAACTGTAGCAAACTT	0.328													32	123					0	0	1	0	0	C	44684369	G	C	44684369	3	2	168	1	0	0	0	0	1	0	0	0	6940	1377	48	5	544	5	GUF1	4	44684369	Missense_Mutation	SNP	G	TCGA-E1-A7YK-01A-11D-A34A-08	4249641	44684369	146469907	21	23549											
KDR	3791	broad.mit.edu	37	4	55962466	55962466	+	Silent	SNP	G	G	C			TCGA-E1-A7YK-01A-11D-A34A-08	TCGA-E1-A7YK-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b1cdb2e-1f87-4f81-b2e1-ccf5b7a821ac	da6047b6-cbe7-4459-a498-06489d228a5f	g.chr4:55962466G>C	ENST00000263923.4	-	19	2953	c.2658C>G	c.(2656-2658)ctC>ctG	p.L886L		NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	886	Protein kinase.				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	TGAGGATCTTGAGTTCAGACA	0.448			Mis		"NSCLC, angiosarcoma"					TSP Lung(20;0.16)			15	110					0	0	1	0	0	C	55962466	G	C	55962466	2	2	168	1	0	0	0	0	0	0	0	1	8182	1277	45	5		5	KDR	4	55962466	Silent	SNP	G	TCGA-E1-A7YK-01A-11D-A34A-08	11278097	55962466	135191810	22	23550											
ACTBL2	345651	broad.mit.edu	37	5	56777528	56777528	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YK-01A-11D-A34A-08	TCGA-E1-A7YK-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b1cdb2e-1f87-4f81-b2e1-ccf5b7a821ac	da6047b6-cbe7-4459-a498-06489d228a5f	g.chr5:56777528C>T	ENST00000423391.1	-	1	1108	c.1007G>A	c.(1006-1008)cGg>cAg	p.R336Q	CTD-2023N9.1_ENST00000506106.1_RNA	NM_001017992.3	NP_001017992.1	Q562R1	ACTBL_HUMAN	actin, beta-like 2	336						cytoplasm|cytoskeleton	ATP binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(3)|pancreas(1)|prostate(2)	28		Lung NSC(810;0.000135)|Prostate(74;0.055)|Breast(144;0.0707)|Ovarian(174;0.182)		OV - Ovarian serous cystadenocarcinoma(10;4.24e-37)		AGAATACTTCCGCTCTGGGGG	0.517													5	57					0	0	1	0	0	T	56777528	C	T	56777528	3	4	168	1	0	0	0	0	1	0	0	0	194	652	23	1	127	1	ACTBL2	5	56777528	Missense_Mutation	SNP	C	TCGA-E1-A7YK-01A-11D-A34A-08		56777528	124137732	23	23551											
IRF1	3659	broad.mit.edu	37	5	131822746	131822746	+	Silent	SNP	C	C	A			TCGA-E1-A7YK-01A-11D-A34A-08	TCGA-E1-A7YK-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b1cdb2e-1f87-4f81-b2e1-ccf5b7a821ac	da6047b6-cbe7-4459-a498-06489d228a5f	g.chr5:131822746C>A	ENST00000245414.4	-	4	522	c.264G>T	c.(262-264)ctG>ctT	p.L88L	IRF1_ENST00000405885.2_Silent_p.L88L|IRF1_ENST00000463784.1_5'UTR	NM_002198.2	NP_002189.1	P10914	IRF1_HUMAN	interferon regulatory factor 1	88					blood coagulation|cellular response to mechanical stimulus|interferon-gamma-mediated signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	nucleoplasm				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|urinary_tract(1)	11		all_cancers(142;0.026)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	LUAD - Lung adenocarcinoma(142;0.247)		CGATATCTGGCAGGGAGTTCA	0.542													5	312					0.014758	0.014758	1	1	0	A	131822746	C	A	131822746	2	1	168	1	0	0	0	0	0	0	0	1	7871	697	25	5		5	IRF1	5	131822746	Silent	SNP	C	TCGA-E1-A7YK-01A-11D-A34A-08	75045218	131822746	49092514	24	23552											
SLC17A4	10050	broad.mit.edu	37	6	25770634	25770634	+	Missense_Mutation	SNP	A	A	C			TCGA-E1-A7YK-01A-11D-A34A-08	TCGA-E1-A7YK-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b1cdb2e-1f87-4f81-b2e1-ccf5b7a821ac	da6047b6-cbe7-4459-a498-06489d228a5f	g.chr6:25770634A>C	ENST00000377905.4	+	5	673	c.554A>C	c.(553-555)tAt>tCt	p.Y185S	SLC17A4_ENST00000397076.2_Intron|SLC17A4_ENST00000439485.2_Intron	NM_005495.2	NP_005486.1	Q9Y2C5	S17A4_HUMAN	solute carrier family 17, member 4	185					phosphate metabolic process	integral to plasma membrane|membrane fraction	sodium:phosphate symporter activity			breast(4)|endometrium(1)|kidney(4)|large_intestine(3)|lung(21)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						ACTGGTCAGTATTCAATTTGG	0.438													9	104					0	0	1	0	0	C	25770634	A	C	25770634	3	2	168	1	0	0	0	0	1	0	0	0	14474	449	16	4	568	4	SLC17A4	6	25770634	Missense_Mutation	SNP	A	TCGA-E1-A7YK-01A-11D-A34A-08		25770634	145344433	25	23553											
SCAND3	114821	broad.mit.edu	37	6	28540057	28540057	+	Silent	SNP	A	A	G			TCGA-E1-A7YK-01A-11D-A34A-08	TCGA-E1-A7YK-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b1cdb2e-1f87-4f81-b2e1-ccf5b7a821ac	da6047b6-cbe7-4459-a498-06489d228a5f	g.chr6:28540057A>G	ENST00000452236.2	-	4	4226	c.3609T>C	c.(3607-3609)aaT>aaC	p.N1203N		NM_052923.1	NP_443155.1	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	1203					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						ggatccacaaatttcctatgc	0.323													3	14					0	0	1	0	0	G	28540057	A	G	28540057	2	3	168	1	0	0	0	0	0	0	0	1	13929	98	4	3		3	SCAND3	6	28540057	Silent	SNP	A	TCGA-E1-A7YK-01A-11D-A34A-08	2769423	28540057	142575010	26	23554											
OR14J1	442191	broad.mit.edu	37	6	29274971	29274971	+	Missense_Mutation	SNP	A	A	G			TCGA-E1-A7YK-01A-11D-A34A-08	TCGA-E1-A7YK-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b1cdb2e-1f87-4f81-b2e1-ccf5b7a821ac	da6047b6-cbe7-4459-a498-06489d228a5f	g.chr6:29274971A>G	ENST00000377160.2	+	1	569	c.505A>G	c.(505-507)Aag>Gag	p.K169E		NM_030946.1	NP_112208.1	Q9UGF5	O14J1_HUMAN	olfactory receptor, family 14, subfamily J, member 1	169					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(2)	17						TCTCTGTGGGAAGAGAGTCAT	0.483													12	75					0	0	1	0	0	G	29274971	A	G	29274971	3	3	168	1	0	0	0	0	1	0	0	0	10996	247	9	3	507	3	OR14J1	6	29274971	Missense_Mutation	SNP	A	TCGA-E1-A7YK-01A-11D-A34A-08	734914	29274971	141840096	27	23555											
CFB	629	broad.mit.edu	37	6	31901509	31901509	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YK-01A-11D-A34A-08	TCGA-E1-A7YK-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b1cdb2e-1f87-4f81-b2e1-ccf5b7a821ac	da6047b6-cbe7-4459-a498-06489d228a5f	g.chr6:31901509C>T	ENST00000556679.1	+	3	434	c.379C>T	c.(379-381)Cgg>Tgg	p.R127W	C2_ENST00000469372.1_Silent_p.S20S|CFB_ENST00000477310.1_Intron|C2_ENST00000299367.5_Missense_Mutation_p.R189W|C2_ENST00000442278.2_Missense_Mutation_p.R57W|C2_ENST00000418949.2_Missense_Mutation_p.R189W|CFB_ENST00000456570.1_Missense_Mutation_p.R127W|C2_ENST00000452323.2_Missense_Mutation_p.R66W			P00751	CFAB_HUMAN	complement factor B	203	Sushi 2.				complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						GTCTTCGGAGCGGGAGTGCCA	0.642													6	45					0	0	1	0	0	T	31901509	C	T	31901509	3	4	168	1	0	0	0	0	1	0	0	0	3300	759	27	1		1	CFB	6	31901509	Missense_Mutation	SNP	C	TCGA-E1-A7YK-01A-11D-A34A-08	2626538	31901509	139213558	28	23556											
ATF6B	1388	broad.mit.edu	37	6	32087599	32087599	+	Splice_Site	SNP	A	A	G			TCGA-E1-A7YK-01A-11D-A34A-08	TCGA-E1-A7YK-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b1cdb2e-1f87-4f81-b2e1-ccf5b7a821ac	da6047b6-cbe7-4459-a498-06489d228a5f	g.chr6:32087599A>G	ENST00000375201.4	-	9	1003		c.e9+1		ATF6B_ENST00000375203.3_Splice_Site			Q99941	ATF6B_HUMAN	activating transcription factor 6 beta						response to unfolded protein|signal transduction	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	22						CCCAACACTTACATCCACTTC	0.582													8	36					0	0	1	0	0	G	32087599	A	G	32087599	5	3	168	1	0	0	0	0	0	0	1	0	1084	405	14	3	1183	3	ATF6B	6	32087599	Splice_Site	SNP	A	TCGA-E1-A7YK-01A-11D-A34A-08	186090	32087599	139027468	29	23557											
LFNG	3955	broad.mit.edu	37	7	2559863	2559863	+	Missense_Mutation	SNP	A	A	G			TCGA-E1-A7YK-01A-11D-A34A-08	TCGA-E1-A7YK-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b1cdb2e-1f87-4f81-b2e1-ccf5b7a821ac	da6047b6-cbe7-4459-a498-06489d228a5f	g.chr7:2559863A>G	ENST00000222725.5	+	1	388	c.368A>G	c.(367-369)aAa>aGa	p.K123R	LFNG_ENST00000359574.3_Missense_Mutation_p.K123R|LFNG_ENST00000402045.1_Intron|LFNG_ENST00000402506.1_Intron|LFNG_ENST00000338732.3_Intron	NM_001040167.1	NP_001035257.1	Q8NES3	LFNG_HUMAN	LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase	123					organ morphogenesis	extracellular region|integral to Golgi membrane	O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|ovary(1)|urinary_tract(2)	6		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;2.54e-14)		AAGACCACCAAAAAGTTCCAC	0.751													4	35					0	0	1	0	0	G	2559863	A	G	2559863	3	3	168	1	0	0	0	0	1	0	0	0	8776	14	1	3	646	3	LFNG	7	2559863	Missense_Mutation	SNP	A	TCGA-E1-A7YK-01A-11D-A34A-08		2559863	156578800	30	23558											
ABCA13	154664	broad.mit.edu	37	7	48506570	48506570	+	Missense_Mutation	SNP	T	T	C			TCGA-E1-A7YK-01A-11D-A34A-08	TCGA-E1-A7YK-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b1cdb2e-1f87-4f81-b2e1-ccf5b7a821ac	da6047b6-cbe7-4459-a498-06489d228a5f	g.chr7:48506570T>C	ENST00000435803.1	+	44	12857	c.12833T>C	c.(12832-12834)tTg>tCg	p.L4278S	ABCA13_ENST00000544596.1_Intron	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	4278					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						GGCGACAACTTGGACCTCACC	0.498													4	84					0	0	1	0	0	C	48506570	T	C	48506570	3	2	168	1	0	0	0	0	1	0	0	0	31	1821	63	3	12836	3	ABCA13	7	48506570	Missense_Mutation	SNP	T	TCGA-E1-A7YK-01A-11D-A34A-08	45946707	48506570	110632093	31	23559											
MGAM	8972	broad.mit.edu	37	7	141767161	141767161	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YK-01A-11D-A34A-08	TCGA-E1-A7YK-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b1cdb2e-1f87-4f81-b2e1-ccf5b7a821ac	da6047b6-cbe7-4459-a498-06489d228a5f	g.chr7:141767161C>T	ENST00000475668.2	+	42	4994	c.4940C>T	c.(4939-4941)aCa>aTa	p.T1647I	MGAM_ENST00000549489.2_Intron			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1647	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GACCAGGTGACATGGGACATA	0.582													9	26					0	0	1	0	0	T	141767161	C	T	141767161	3	4	168	1	0	0	0	0	1	0	0	0	9591	493	17	2		2	MGAM	7	141767161	Missense_Mutation	SNP	C	TCGA-E1-A7YK-01A-11D-A34A-08	93260591	141767161	17371502	32	23560											
RHPN1	114822	broad.mit.edu	37	8	144457813	144457813	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YK-01A-11D-A34A-08	TCGA-E1-A7YK-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b1cdb2e-1f87-4f81-b2e1-ccf5b7a821ac	da6047b6-cbe7-4459-a498-06489d228a5f	g.chr8:144457813C>T	ENST00000289013.6	+	2	252	c.151C>T	c.(151-153)Cgg>Tgg	p.R51W		NM_052924.2	NP_443156.2	Q8TCX5	RHPN1_HUMAN	rhophilin, Rho GTPase binding protein 1	51					signal transduction	intracellular				endometrium(1)|large_intestine(1)|lung(7)	9	all_cancers(97;7.39e-11)|all_epithelial(106;5.44e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.156)			GCTGCAGATGCGGACGGGCGC	0.672													9	36					0	0	1	0	0	T	144457813	C	T	144457813	3	4	168	1	0	0	0	0	1	0	0	0	13400	759	27	1	157	1	RHPN1	8	144457813	Missense_Mutation	SNP	C	TCGA-E1-A7YK-01A-11D-A34A-08		144457813	1906209	33	23561											
TRPM3	80036	broad.mit.edu	37	9	73235249	73235249	+	Silent	SNP	T	T	C			TCGA-E1-A7YK-01A-11D-A34A-08	TCGA-E1-A7YK-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b1cdb2e-1f87-4f81-b2e1-ccf5b7a821ac	da6047b6-cbe7-4459-a498-06489d228a5f	g.chr9:73235249T>C	ENST00000377110.3	-	15	2079	c.1836A>G	c.(1834-1836)acA>acG	p.T612T	TRPM3_ENST00000396280.5_Silent_p.T461T|TRPM3_ENST00000408909.2_Silent_p.T471T|TRPM3_ENST00000357533.2_Silent_p.T616T|TRPM3_ENST00000396285.1_Silent_p.T459T|TRPM3_ENST00000423814.3_Silent_p.T639T|TRPM3_ENST00000360823.2_Silent_p.T474T|TRPM3_ENST00000396292.4_Silent_p.T484T|TRPM3_ENST00000377105.1_Silent_p.T471T|TRPM3_ENST00000377106.1_Silent_p.T484T|TRPM3_ENST00000377111.2_Silent_p.T612T|TRPM3_ENST00000358082.3_Silent_p.T474T			Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3							integral to membrane	calcium channel activity			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						GTTTCTTGGTTGTCTTTCTTC	0.448													21	207					0	0	1	0	0	C	73235249	T	C	73235249	2	2	168	1	0	0	0	0	0	0	0	1	16648	1799	63	3		3	TRPM3	9	73235249	Silent	SNP	T	TCGA-E1-A7YK-01A-11D-A34A-08		73235249	67978182	34	23562											
ITIH5	80760	broad.mit.edu	37	10	7614301	7614301	+	Missense_Mutation	SNP	C	C	T	rs141124086	by1000genomes	TCGA-E1-A7YK-01A-11D-A34A-08	TCGA-E1-A7YK-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b1cdb2e-1f87-4f81-b2e1-ccf5b7a821ac	da6047b6-cbe7-4459-a498-06489d228a5f	g.chr10:7614301C>T	ENST00000397145.2	-	12	2198	c.2093G>A	c.(2092-2094)aGc>aAc	p.S698N	ITIH5_ENST00000446830.2_Intron|ITIH5_ENST00000397146.2_Intron|ITIH5_ENST00000298441.6_Intron|ITIH5_ENST00000256861.6_Intron|ITIH5_ENST00000434980.1_5'UTR	NM_001001851.2	NP_001001851.1	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	0					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						TTCCAGGATGCTGGCAAAAGG	0.388													6	60					0	0	1	0	0	T	7614301	C	T	7614301	3	4	168	1	0	0	0	0	1	0	0	0	7951	797	28	2	870	2	ITIH5	10	7614301	Missense_Mutation	SNP	C	TCGA-E1-A7YK-01A-11D-A34A-08		7614301	127920446	35	23563											
NEBL	10529	broad.mit.edu	37	10	21120204	21120204	+	Missense_Mutation	SNP	A	A	C			TCGA-E1-A7YK-01A-11D-A34A-08	TCGA-E1-A7YK-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b1cdb2e-1f87-4f81-b2e1-ccf5b7a821ac	da6047b6-cbe7-4459-a498-06489d228a5f	g.chr10:21120204A>C	ENST00000377122.4	-	16	1988	c.1592T>G	c.(1591-1593)aTt>aGt	p.I531S	NEBL_ENST00000417816.2_Intron|NEBL_ENST00000377159.4_Intron	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN	nebulette	531					regulation of actin filament length		actin binding|structural constituent of muscle			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						TTTCCCTTTAATTTCATTTTC	0.353													7	68					0	0	1	0	0	C	21120204	A	C	21120204	3	2	168	1	0	0	0	0	1	0	0	0	10350	101	4	4	1504	4	NEBL	10	21120204	Missense_Mutation	SNP	A	TCGA-E1-A7YK-01A-11D-A34A-08	13505903	21120204	114414543	36	23564											
CYP2C18	1562	broad.mit.edu	37	10	96480240	96480240	+	Missense_Mutation	SNP	A	A	G			TCGA-E1-A7YK-01A-11D-A34A-08	TCGA-E1-A7YK-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b1cdb2e-1f87-4f81-b2e1-ccf5b7a821ac	da6047b6-cbe7-4459-a498-06489d228a5f	g.chr10:96480240A>G	ENST00000285979.6	+	6	1106	c.907A>G	c.(907-909)Agc>Ggc	p.S303G	CYP2C18_ENST00000339022.5_Missense_Mutation_p.S244G|CYP2C19_ENST00000464755.1_3'UTR	NM_000772.2	NP_000763.1			cytochrome P450, family 2, subfamily C, polypeptide 18											NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	26		Colorectal(252;0.09)		all cancers(201;2.8e-06)|KIRC - Kidney renal clear cell carcinoma(50;0.0646)|Kidney(138;0.0805)		AGAGACAACGAGCACCACTCT	0.423													7	55					0	0	1	0	0	G	96480240	A	G	96480240	3	3	168	1	0	0	0	0	1	0	0	0	4188	304	11	3	929	3	CYP2C18	10	96480240	Missense_Mutation	SNP	A	TCGA-E1-A7YK-01A-11D-A34A-08	75360036	96480240	39054507	37	23565											
SLC15A3	51296	broad.mit.edu	37	11	60714213	60714214	+	Frame_Shift_Ins	INS	-	-	GACA	rs149019885		TCGA-E1-A7YK-01A-11D-A34A-08	TCGA-E1-A7YK-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b1cdb2e-1f87-4f81-b2e1-ccf5b7a821ac	da6047b6-cbe7-4459-a498-06489d228a5f	g.chr11:60714213_60714214insGACA	ENST00000227880.3	-	2	871_872	c.638_639insTGTC	c.(637-639)tcgfs	p.-213fs		NM_016582.2	NP_057666.1	Q8IY34	S15A3_HUMAN	solute carrier family 15 (oligopeptide transporter), member 3						oligopeptide transport|protein transport	integral to membrane|lysosomal membrane	peptide:hydrogen symporter activity			central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)	17						CCACCAGCAGCGACAGCACAGC	0.569													9	165	---	---	---	---						GACA	60714214	-	GACA	60714213	7	5	168	1	0	1	1	0	0	0	0	0	14455	755	27	0	1134	0	SLC15A3	11	60714213	Frame_Shift_Ins	INS	-	TCGA-E1-A7YK-01A-11D-A34A-08		60714213	74292303	38	23566											
USP12	219333	broad.mit.edu	37	13	27664086	27664086	+	Missense_Mutation	SNP	T	T	C			TCGA-E1-A7YK-01A-11D-A34A-08	TCGA-E1-A7YK-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b1cdb2e-1f87-4f81-b2e1-ccf5b7a821ac	da6047b6-cbe7-4459-a498-06489d228a5f	g.chr13:27664086T>C	ENST00000282344.6	-	6	924	c.668A>G	c.(667-669)gAa>gGa	p.E223G		NM_182488.3	NP_872294.2	O75317	UBP12_HUMAN	ubiquitin specific peptidase 12	223					protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Lung SC(185;0.0161)		all cancers(112;0.0508)|GBM - Glioblastoma multiforme(144;0.168)|Epithelial(112;0.244)|OV - Ovarian serous cystadenocarcinoma(117;0.246)		GCACAGAGTTTCTGTGTTGCT	0.323													7	71					0	0	1	0	0	C	27664086	T	C	27664086	3	2	168	1	0	0	0	0	1	0	0	0	17103	1783	62	3	460	3	USP12	13	27664086	Missense_Mutation	SNP	T	TCGA-E1-A7YK-01A-11D-A34A-08		27664086	87505792	39	23567											
BRCA2	675	broad.mit.edu	37	13	32913927	32913927	+	Missense_Mutation	SNP	A	A	G			TCGA-E1-A7YK-01A-11D-A34A-08	TCGA-E1-A7YK-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b1cdb2e-1f87-4f81-b2e1-ccf5b7a821ac	da6047b6-cbe7-4459-a498-06489d228a5f	g.chr13:32913927A>G	ENST00000544455.1	+	11	5662	c.5435A>G	c.(5434-5436)gAa>gGa	p.E1812G	BRCA2_ENST00000380152.3_Missense_Mutation_p.E1812G	NM_000059.3	NP_000050	P51587	BRCA2_HUMAN	breast cancer 2, early onset	1812					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		TGCGTTGAGGAACTTGTGACT	0.343			"D, Mis, N, F, S"		"breast, ovarian, pancreatic"	"breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			13	86					0	0	1	0	0	G	32913927	A	G	32913927	3	3	168	1	0	0	0	0	1	0	0	0	1501	246	9	3	5473	3	BRCA2	13	32913927	Missense_Mutation	SNP	A	TCGA-E1-A7YK-01A-11D-A34A-08	5249841	32913927	82255951	40	23568											
INTS6	26512	broad.mit.edu	37	13	51953635	51953638	+	Frame_Shift_Del	DEL	TAAC	TAAC	-			TCGA-E1-A7YK-01A-11D-A34A-08	TCGA-E1-A7YK-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b1cdb2e-1f87-4f81-b2e1-ccf5b7a821ac	da6047b6-cbe7-4459-a498-06489d228a5f	g.chr13:51953635_51953638delTAAC	ENST00000311234.4	-	11	1818_1821	c.1346_1349delGTTA	c.(1345-1350)agttacfs	p.SY449fs	INTS6_ENST00000490542.1_Frame_Shift_Del_p.SY133fs|INTS6_ENST00000398119.2_Frame_Shift_Del_p.SY436fs|INTS6_ENST00000463928.1_Intron|INTS6_ENST00000425000.1_Frame_Shift_Del_p.SY17fs|INTS6_ENST00000497989.1_Frame_Shift_Del_p.SY271fs	NM_012141.2	NP_036273.1	Q9UL03	INT6_HUMAN	integrator complex subunit 6	449					snRNA processing	actin cytoskeleton|integrator complex	protein binding|transmembrane receptor activity			NS(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Breast(56;0.000286)|Lung NSC(96;0.00145)|Prostate(109;0.00403)|Hepatocellular(98;0.065)|Myeloproliferative disorder(33;0.163)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;7.7e-08)		AATGACACTGTAACTAAGTCCATA	0.353													8	114	---	---	---	---						-	51953638	TAAC	-	51953635	7	5	168	1	0	1	0	1	0	0	0	0	7826	1638	57	0	1346	0	INTS6	13	51953635	Frame_Shift_Del	DEL	TAAC	TCGA-E1-A7YK-01A-11D-A34A-08	19039708	51953635	63216243	41	23569											
TMTC4	84899	broad.mit.edu	37	13	101257376	101257376	+	Nonsense_Mutation	SNP	C	C	A			TCGA-E1-A7YK-01A-11D-A34A-08	TCGA-E1-A7YK-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b1cdb2e-1f87-4f81-b2e1-ccf5b7a821ac	da6047b6-cbe7-4459-a498-06489d228a5f	g.chr13:101257376C>A	ENST00000342624.5	-	19	2413	c.2155G>T	c.(2155-2157)Gga>Tga	p.G719*	TMTC4_ENST00000328767.5_Nonsense_Mutation_p.G589*|TMTC4_ENST00000376234.3_Nonsense_Mutation_p.G700*	NM_032813.2	NP_116202.2	Q5T4D3	TMTC4_HUMAN	transmembrane and tetratricopeptide repeat containing 4	700						integral to membrane	binding			breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					TCTAGATGTCCCCAACGATGA	0.448													14	100					4.3838e-07	4.61453e-07	1	1	0	A	101257376	C	A	101257376	4	1	168	1	0	0	0	0	0	1	0	0	16323	632	22	5	131	5	TMTC4	13	101257376	Nonsense_Mutation	SNP	C	TCGA-E1-A7YK-01A-11D-A34A-08	49303741	101257376	13912502	42	23570											
ARHGAP5	394	broad.mit.edu	37	14	32563045	32563045	+	Missense_Mutation	SNP	A	A	C			TCGA-E1-A7YK-01A-11D-A34A-08	TCGA-E1-A7YK-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b1cdb2e-1f87-4f81-b2e1-ccf5b7a821ac	da6047b6-cbe7-4459-a498-06489d228a5f	g.chr14:32563045A>C	ENST00000345122.3	+	2	3485	c.3170A>C	c.(3169-3171)aAc>aCc	p.N1057T	ARHGAP5_ENST00000433497.1_Intron|ARHGAP5_ENST00000539826.2_Missense_Mutation_p.N1057T|ARHGAP5_ENST00000432921.1_Missense_Mutation_p.N1057T|ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000556611.1_Missense_Mutation_p.N1057T	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5	1057					cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		CTCGATCCAAACCTTTTAAAA	0.408													11	66					0	0	1	0	0	C	32563045	A	C	32563045	3	2	168	1	0	0	0	0	1	0	0	0	883	43	2	5	3172	5	ARHGAP5	14	32563045	Missense_Mutation	SNP	A	TCGA-E1-A7YK-01A-11D-A34A-08		32563045	74786495	43	23571											
RALGAPA1	253959	broad.mit.edu	37	14	36125042	36125042	+	Missense_Mutation	SNP	C	C	G			TCGA-E1-A7YK-01A-11D-A34A-08	TCGA-E1-A7YK-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b1cdb2e-1f87-4f81-b2e1-ccf5b7a821ac	da6047b6-cbe7-4459-a498-06489d228a5f	g.chr14:36125042C>G	ENST00000258840.6	-	29	4480	c.4090G>C	c.(4090-4092)Gct>Cct	p.A1364P	RALGAPA1_ENST00000389698.3_Missense_Mutation_p.A1317P|RALGAPA1_ENST00000382366.3_Missense_Mutation_p.A1330P|RALGAPA1_ENST00000307138.6_Missense_Mutation_p.A1317P	NM_001283044.1	NP_001269973.1	Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)	1317	Minimal domain that binds to TCF3/E12 (By similarity).				activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	protein heterodimerization activity|Ral GTPase activator activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						ACATTCAGAGCTTCCTTAATT	0.318													10	124					0	0	1	0	0	G	36125042	C	G	36125042	3	3	168	1	0	0	0	0	1	0	0	0	13065	797	28	4	2366	4	RALGAPA1	14	36125042	Missense_Mutation	SNP	C	TCGA-E1-A7YK-01A-11D-A34A-08	3561997	36125042	71224498	44	23572											
FOXA1	3169	broad.mit.edu	37	14	38060667	38060667	+	Missense_Mutation	SNP	C	C	G			TCGA-E1-A7YK-01A-11D-A34A-08	TCGA-E1-A7YK-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b1cdb2e-1f87-4f81-b2e1-ccf5b7a821ac	da6047b6-cbe7-4459-a498-06489d228a5f	g.chr14:38060667C>G	ENST00000250448.2	-	2	1383	c.1322G>C	c.(1321-1323)aGc>aCc	p.S441T	FOXA1_ENST00000545425.2_5'UTR|FOXA1_ENST00000540786.1_Missense_Mutation_p.S408T	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	forkhead box A1	441					chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)		CACCGAGGCGCTGCCTAGAGG	0.602													5	45					0	0	1	0	0	G	38060667	C	G	38060667	3	3	168	1	0	0	0	0	1	0	0	0	6022	797	28	4	100	4	FOXA1	14	38060667	Missense_Mutation	SNP	C	TCGA-E1-A7YK-01A-11D-A34A-08	1935625	38060667	69288873	45	23573											
SPTB	6710	broad.mit.edu	37	14	65236307	65236307	+	Splice_Site	SNP	C	C	T			TCGA-E1-A7YK-01A-11D-A34A-08	TCGA-E1-A7YK-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b1cdb2e-1f87-4f81-b2e1-ccf5b7a821ac	da6047b6-cbe7-4459-a498-06489d228a5f	g.chr14:65236307C>T	ENST00000389722.3	-	27	5991		c.e27+1		SPTB_ENST00000389721.5_Splice_Site|SPTB_ENST00000389720.3_Splice_Site|SPTB_ENST00000556626.1_Splice_Site|SPTB_ENST00000542895.1_Splice_Site	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic						actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		AGTCCCCTCACCTCCTCTGAG	0.627													4	34					0	0	1	0	0	T	65236307	C	T	65236307	5	4	168	1	0	0	0	0	0	0	1	0	15174	521	18	2	1153	2	SPTB	14	65236307	Splice_Site	SNP	C	TCGA-E1-A7YK-01A-11D-A34A-08	27175640	65236307	42113233	46	23574											
MYEF2	50804	broad.mit.edu	37	15	48443720	48443720	+	Missense_Mutation	SNP	C	C	A			TCGA-E1-A7YK-01A-11D-A34A-08	TCGA-E1-A7YK-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b1cdb2e-1f87-4f81-b2e1-ccf5b7a821ac	da6047b6-cbe7-4459-a498-06489d228a5f	g.chr15:48443720C>A	ENST00000324324.7	-	13	1535	c.1256G>T	c.(1255-1257)cGt>cTt	p.R419L	MYEF2_ENST00000267836.6_Missense_Mutation_p.R419L	NM_016132.3	NP_057216	Q9P2K5	MYEF2_HUMAN	myelin expression factor 2	419	Gly-rich.				transcription, DNA-dependent	Golgi apparatus|nucleus	DNA binding|nucleotide binding|RNA binding			endometrium(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31		all_lung(180;0.00217)		all cancers(107;3.73e-10)|GBM - Glioblastoma multiforme(94;7.81e-07)		AATATCACCACGTCCAAAATC	0.383													17	134					7.45023e-12	7.94691e-12	1	1	0	A	48443720	C	A	48443720	3	1	168	1	0	0	0	0	1	0	0	0	10072	536	19	5	566	5	MYEF2	15	48443720	Missense_Mutation	SNP	C	TCGA-E1-A7YK-01A-11D-A34A-08		48443720	54087672	47	23575											
ACAN	176	broad.mit.edu	37	15	89392715	89392715	+	Silent	SNP	A	A	G			TCGA-E1-A7YK-01A-11D-A34A-08	TCGA-E1-A7YK-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b1cdb2e-1f87-4f81-b2e1-ccf5b7a821ac	da6047b6-cbe7-4459-a498-06489d228a5f	g.chr15:89392715A>G	ENST00000439576.2	+	10	2153	c.1779A>G	c.(1777-1779)gaA>gaG	p.E593E	ACAN_ENST00000352105.7_Silent_p.E593E|ACAN_ENST00000559004.1_Silent_p.E593E|ACAN_ENST00000558207.1_Silent_p.E593E|ACAN_ENST00000561243.1_Silent_p.E593E	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	593					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			CCTTCCAGGAAGCACTGGAGT	0.632													4	10					0	0	1	0	0	G	89392715	A	G	89392715	2	3	168	1	0	0	0	0	0	0	0	1	117	69	3	3		3	ACAN	15	89392715	Silent	SNP	A	TCGA-E1-A7YK-01A-11D-A34A-08	40948995	89392715	13138677	48	23576											
ACSM1	116285	broad.mit.edu	37	16	20638625	20638625	+	Missense_Mutation	SNP	T	T	C			TCGA-E1-A7YK-01A-11D-A34A-08	TCGA-E1-A7YK-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b1cdb2e-1f87-4f81-b2e1-ccf5b7a821ac	da6047b6-cbe7-4459-a498-06489d228a5f	g.chr16:20638625T>C	ENST00000219151.4	-	11	1476	c.266A>G	c.(265-267)aAg>aGg	p.K89R	ACSM1_ENST00000520010.1_Missense_Mutation_p.K438R|ACSM1_ENST00000307493.4_Missense_Mutation_p.K438R			Q08AH1	ACSM1_HUMAN	acyl-CoA synthetase medium-chain family member 1	438					benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process	mitochondrial matrix	acyl-CoA ligase activity|ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						TTTAGCTGTCTTCTCTGGGTC	0.473													41	306					0	0	1	0	0	C	20638625	T	C	20638625	3	2	168	1	0	0	0	0	1	0	0	0	182	1609	56	3	436	3	ACSM1	16	20638625	Missense_Mutation	SNP	T	TCGA-E1-A7YK-01A-11D-A34A-08		20638625	69716128	49	23577											
DNAH3	55567	broad.mit.edu	37	16	21147795	21147795	+	Missense_Mutation	SNP	T	T	A			TCGA-E1-A7YK-01A-11D-A34A-08	TCGA-E1-A7YK-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b1cdb2e-1f87-4f81-b2e1-ccf5b7a821ac	da6047b6-cbe7-4459-a498-06489d228a5f	g.chr16:21147795T>A	ENST00000261383.3	-	6	735	c.736A>T	c.(736-738)Atg>Ttg	p.M246L	DNAH3_ENST00000415178.1_Missense_Mutation_p.M246L	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	246	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		GGGGCAATCATGTCTTTGCGA	0.473													10	83					0	0	1	0	0	A	21147795	T	A	21147795	3	1	168	1	0	0	0	0	1	0	0	0	4631	1464	51	4	11841	4	DNAH3	16	21147795	Missense_Mutation	SNP	T	TCGA-E1-A7YK-01A-11D-A34A-08	509170	21147795	69206958	50	23578											
TP53	7157	broad.mit.edu	37	17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	rs121913343		TCGA-E1-A7YK-01A-11D-A34A-08	TCGA-E1-A7YK-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b1cdb2e-1f87-4f81-b2e1-ccf5b7a821ac	da6047b6-cbe7-4459-a498-06489d228a5f	g.chr17:7577121G>A	ENST00000420246.2	-	8	949	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron|TP53_ENST00000269305.4_Missense_Mutation_p.R273C|TP53_ENST00000445888.2_Missense_Mutation_p.R273C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	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).		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.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			11	5					0	0	1	0	0	A	7577121	G	A	7577121	3	1	168	1	0	0	0	0	1	0	0	0	16442	1087	38	1	469	1	TP53	17	7577121	Missense_Mutation	SNP	G	TCGA-E1-A7YK-01A-11D-A34A-08		7577121	73618089	51	23579											
ITGB4	3691	broad.mit.edu	37	17	73738764	73738764	+	Missense_Mutation	SNP	G	G	T			TCGA-E1-A7YK-01A-11D-A34A-08	TCGA-E1-A7YK-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b1cdb2e-1f87-4f81-b2e1-ccf5b7a821ac	da6047b6-cbe7-4459-a498-06489d228a5f	g.chr17:73738764G>T	ENST00000200181.3	+	25	3071	c.2884G>T	c.(2884-2886)Gtg>Ttg	p.V962L	ITGB4_ENST00000339591.3_Missense_Mutation_p.V962L|ITGB4_ENST00000579662.1_Missense_Mutation_p.V962L|ITGB4_ENST00000450894.3_Missense_Mutation_p.V962L|ITGB4_ENST00000449880.2_Missense_Mutation_p.V962L	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	962					cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			GCAGCTGCTGGTGGAGGCCAT	0.657													7	52					6.5536e-12	7.08497e-12	1	1	0	T	73738764	G	T	73738764	3	4	168	1	0	0	0	0	1	0	0	0	7941	1261	44	5	2978	5	ITGB4	17	73738764	Missense_Mutation	SNP	G	TCGA-E1-A7YK-01A-11D-A34A-08	66161643	73738764	7456446	52	23580											
ENGASE	64772	broad.mit.edu	37	17	77075619	77075619	+	Missense_Mutation	SNP	G	G	T			TCGA-E1-A7YK-01A-11D-A34A-08	TCGA-E1-A7YK-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b1cdb2e-1f87-4f81-b2e1-ccf5b7a821ac	da6047b6-cbe7-4459-a498-06489d228a5f	g.chr17:77075619G>T	ENST00000579016.1	+	4	465	c.465G>T	c.(463-465)tgG>tgT	p.W155C	ENGASE_ENST00000539857.2_Intron	NM_001042573.2	NP_001036038.1	Q8NFI3	ENASE_HUMAN	endo-beta-N-acetylglucosaminidase	155						cytosol	mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity			breast(2)|endometrium(4)|large_intestine(1)|lung(15)|prostate(2)|skin(1)	25						TCTACCACTGGCAGTGCATCG	0.582													34	89					5.71845e-15	6.2668e-15	1	1	0	T	77075619	G	T	77075619	3	4	168	1	0	0	0	0	1	0	0	0	5146	1212	42	5	479	5	ENGASE	17	77075619	Missense_Mutation	SNP	G	TCGA-E1-A7YK-01A-11D-A34A-08	3336855	77075619	4119591	53	23581											
NETO1	81832	broad.mit.edu	37	18	70526300	70526300	+	Missense_Mutation	SNP	C	C	A			TCGA-E1-A7YK-01A-11D-A34A-08	TCGA-E1-A7YK-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b1cdb2e-1f87-4f81-b2e1-ccf5b7a821ac	da6047b6-cbe7-4459-a498-06489d228a5f	g.chr18:70526300C>A	ENST00000327305.6	-	4	887	c.230G>T	c.(229-231)aGa>aTa	p.R77I	NETO1_ENST00000580049.1_5'UTR|NETO1_ENST00000299430.2_Missense_Mutation_p.R76I|NETO1_ENST00000583169.1_Missense_Mutation_p.R77I|NETO1_ENST00000397929.1_Missense_Mutation_p.R76I	NM_138966.3	NP_620416	Q8TDF5	NETO1_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 1	77	CUB 1.				memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity			NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		AATGCACTGTCTTGGAGCGGC	0.368													14	86					0.000566183	0.00057335	1	1	0	A	70526300	C	A	70526300	3	1	168	1	0	0	0	0	1	0	0	0	10386	913	32	4	1408	4	NETO1	18	70526300	Missense_Mutation	SNP	C	TCGA-E1-A7YK-01A-11D-A34A-08		70526300	7550948	54	23582											
SIN3B	23309	broad.mit.edu	37	19	16973733	16973733	+	Silent	SNP	C	C	T			TCGA-E1-A7YK-01A-11D-A34A-08	TCGA-E1-A7YK-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b1cdb2e-1f87-4f81-b2e1-ccf5b7a821ac	da6047b6-cbe7-4459-a498-06489d228a5f	g.chr19:16973733C>T	ENST00000379803.1	+	10	1319	c.1305C>T	c.(1303-1305)gaC>gaT	p.D435D	SIN3B_ENST00000248054.5_Intron	NM_015260.2	NP_056075.1	O75182	SIN3B_HUMAN	SIN3 transcription regulator family member B	435	Interaction with NCOR1 (By similarity).|Interaction with SDS3 and HDAC1 (By similarity).				cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	protein binding			endometrium(4)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26						CGTGGACAGACGATTACTGCA	0.537													45	230					0	0	1	0	0	T	16973733	C	T	16973733	2	4	168	1	0	0	0	0	0	0	0	1	14381	535	19	1		1	SIN3B	19	16973733	Silent	SNP	C	TCGA-E1-A7YK-01A-11D-A34A-08		16973733	42155250	55	23583											
LRP3	4037	broad.mit.edu	37	19	33687643	33687643	+	Missense_Mutation	SNP	C	C	G			TCGA-E1-A7YK-01A-11D-A34A-08	TCGA-E1-A7YK-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b1cdb2e-1f87-4f81-b2e1-ccf5b7a821ac	da6047b6-cbe7-4459-a498-06489d228a5f	g.chr19:33687643C>G	ENST00000253193.7	+	2	283	c.81C>G	c.(79-81)atC>atG	p.I27M		NM_002333.3	NP_002324.2	O75074	LRP3_HUMAN	low density lipoprotein receptor-related protein 3	27					receptor-mediated endocytosis	coated pit|integral to membrane	receptor activity			breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)	15	Esophageal squamous(110;0.137)					CAGTGAACATCTTTCTCACCG	0.552													9	47					0	0	1	0	0	G	33687643	C	G	33687643	3	3	168	1	0	0	0	0	1	0	0	0	9003	903	32	4	87	4	LRP3	19	33687643	Missense_Mutation	SNP	C	TCGA-E1-A7YK-01A-11D-A34A-08	16713910	33687643	25441340	56	23584											
ZNF790	388536	broad.mit.edu	37	19	37314666	37314666	+	Silent	SNP	T	T	G			TCGA-E1-A7YK-01A-11D-A34A-08	TCGA-E1-A7YK-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b1cdb2e-1f87-4f81-b2e1-ccf5b7a821ac	da6047b6-cbe7-4459-a498-06489d228a5f	g.chr19:37314666T>G	ENST00000356725.4	-	3	156	c.36A>C	c.(34-36)gtA>gtC	p.V12V	CTD-2162K18.5_ENST00000587278.1_RNA|CTD-2162K18.5_ENST00000588906.1_RNA	NM_001242802.1|NM_206894.3	NP_001229731.1|NP_996777.2	Q6PG37	ZN790_HUMAN	zinc finger protein 790	12	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			biliary_tract(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	32	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			GAGAGAAATCTACAGCCACAT	0.393													5	65					0	0	1	0	0	G	37314666	T	G	37314666	2	3	168	1	0	0	0	0	0	0	0	1	18211	1509	53	5		5	ZNF790	19	37314666	Silent	SNP	T	TCGA-E1-A7YK-01A-11D-A34A-08	3627023	37314666	21814317	57	23585											
RYR1	6261	broad.mit.edu	37	19	38990562	38990562	+	Missense_Mutation	SNP	C	C	T	rs145787667		TCGA-E1-A7YK-01A-11D-A34A-08	TCGA-E1-A7YK-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b1cdb2e-1f87-4f81-b2e1-ccf5b7a821ac	da6047b6-cbe7-4459-a498-06489d228a5f	g.chr19:38990562C>T	ENST00000355481.4	+	45	7360	c.7229C>T	c.(7228-7230)cCg>cTg	p.P2410L	RYR1_ENST00000359596.3_Missense_Mutation_p.P2410L|RYR1_ENST00000360985.3_Missense_Mutation_p.P2410L	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	2410	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GGTGAGGAACCGCCTGAAGAA	0.632													5	22					0	0	1	0	0	T	38990562	C	T	38990562	3	4	168	1	0	0	0	0	1	0	0	0	13820	652	23	1	7407	1	RYR1	19	38990562	Missense_Mutation	SNP	C	TCGA-E1-A7YK-01A-11D-A34A-08	1675896	38990562	20138421	58	23586											
AXL	558	broad.mit.edu	37	19	41727878	41727878	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YK-01A-11D-A34A-08	TCGA-E1-A7YK-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b1cdb2e-1f87-4f81-b2e1-ccf5b7a821ac	da6047b6-cbe7-4459-a498-06489d228a5f	g.chr19:41727878C>T	ENST00000301178.4	+	4	693	c.503C>T	c.(502-504)cCc>cTc	p.P168L	AXL_ENST00000594880.1_3'UTR|AXL_ENST00000359092.3_Missense_Mutation_p.P168L|CTD-2195B23.3_ENST00000598541.1_RNA	NM_001278599.1|NM_021913.3	NP_001265528.1|NP_068713	P30530	UFO_HUMAN	AXL receptor tyrosine kinase	168	Ig-like C2-type 2.					integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	48						CCCCCAGAGCCCGTGGACCTA	0.662													3	6					0	0	1	0	0	T	41727878	C	T	41727878	3	4	168	1	0	0	0	0	1	0	0	0	1236	623	22	2	517	2	AXL	19	41727878	Missense_Mutation	SNP	C	TCGA-E1-A7YK-01A-11D-A34A-08	2737316	41727878	17401105	59	23587											
ZNF304	57343	broad.mit.edu	37	19	57868714	57868714	+	Missense_Mutation	SNP	C	C	A			TCGA-E1-A7YK-01A-11D-A34A-08	TCGA-E1-A7YK-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b1cdb2e-1f87-4f81-b2e1-ccf5b7a821ac	da6047b6-cbe7-4459-a498-06489d228a5f	g.chr19:57868714C>A	ENST00000391705.3	+	4	1761	c.1477C>A	c.(1477-1479)Cac>Aac	p.H493N	ZNF304_ENST00000443917.2_Missense_Mutation_p.H540N|ZNF304_ENST00000282286.5_Missense_Mutation_p.H493N|ZNF304_ENST00000598744.1_Missense_Mutation_p.H451N	NM_020657.2	NP_065708.2	Q9HCX3	ZN304_HUMAN	zinc finger protein 304	493					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)	26		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;0.0265)		ACTTGTGCAACACCAAAAAAT	0.453													5	53					3.59834e-05	3.6906e-05	1	1	0	A	57868714	C	A	57868714	3	1	168	1	0	0	0	0	1	0	0	0	17890	478	17	5	1487	5	ZNF304	19	57868714	Missense_Mutation	SNP	C	TCGA-E1-A7YK-01A-11D-A34A-08	16140836	57868714	1260269	60	23588											
ZNF343	79175	broad.mit.edu	37	20	2473382	2473382	+	Missense_Mutation	SNP	T	T	G			TCGA-E1-A7YK-01A-11D-A34A-08	TCGA-E1-A7YK-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b1cdb2e-1f87-4f81-b2e1-ccf5b7a821ac	da6047b6-cbe7-4459-a498-06489d228a5f	g.chr20:2473382T>G	ENST00000278772.4	-	5	754	c.267A>C	c.(265-267)gaA>gaC	p.E89D	ZNF343_ENST00000381253.1_Missense_Mutation_p.E89D|ZNF343_ENST00000358413.2_Missense_Mutation_p.E89D|RP4-734P14.4_ENST00000461548.1_Missense_Mutation_p.E89D	NM_001282495.1|NM_001282496.1|NM_024325.4	NP_001269424.1|NP_001269425.1|NP_077301.4	Q6P1L6	ZN343_HUMAN	zinc finger protein 343	89	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|skin(4)|upper_aerodigestive_tract(1)	25						CCAGCATCACTTCTTTGTATA	0.403													13	96					0	0	1	0	0	G	2473382	T	G	2473382	3	3	168	1	0	0	0	0	1	0	0	0	17915	1606	56	5	1540	5	ZNF343	20	2473382	Missense_Mutation	SNP	T	TCGA-E1-A7YK-01A-11D-A34A-08		2473382	60552138	61	23589											
FAM47A	158724	broad.mit.edu	37	X	34148669	34148669	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YK-01A-11D-A34A-08	TCGA-E1-A7YK-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b1cdb2e-1f87-4f81-b2e1-ccf5b7a821ac	da6047b6-cbe7-4459-a498-06489d228a5f	g.chrX:34148669C>T	ENST00000346193.3	-	1	1778	c.1727G>A	c.(1726-1728)cGa>cAa	p.R576Q		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	576								p.R576Q(2)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						GTAGGATGCTCGAATCTTGGG	0.512													3	14					0	0	1	0	0	T	34148669	C	T	34148669	3	4	168	1	0	0	0	0	1	0	0	0	5605	884	31	1	652	1	FAM47A	23	34148669	Missense_Mutation	SNP	C	TCGA-E1-A7YK-01A-11D-A34A-08		34148669	121121891	62	23590											
ATRX	546	broad.mit.edu	37	X	76889115	76889115	+	Missense_Mutation	SNP	A	A	G			TCGA-E1-A7YK-01A-11D-A34A-08	TCGA-E1-A7YK-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b1cdb2e-1f87-4f81-b2e1-ccf5b7a821ac	da6047b6-cbe7-4459-a498-06489d228a5f	g.chrX:76889115A>G	ENST00000373344.5	-	18	5109	c.4895T>C	c.(4894-4896)tTg>tCg	p.L1632S	ATRX_ENST00000395603.3_Missense_Mutation_p.L1594S|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1632	Helicase ATP-binding.			L -> F (in Ref. 7; AAC50069).	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)	CATCCAATTCAAAGCAGTATT	0.333			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						17	30					0	0	1	0	0	G	76889115	A	G	76889115	3	3	168	1	0	0	0	0	1	0	0	0	1206	131	5	3	2655	3	ATRX	23	76889115	Missense_Mutation	SNP	A	TCGA-E1-A7YK-01A-11D-A34A-08	42740446	76889115	78381445	63	23591											
ATRX	546	broad.mit.edu	37	X	76889175	76889175	+	Missense_Mutation	SNP	A	A	G			TCGA-E1-A7YK-01A-11D-A34A-08	TCGA-E1-A7YK-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b1cdb2e-1f87-4f81-b2e1-ccf5b7a821ac	da6047b6-cbe7-4459-a498-06489d228a5f	g.chrX:76889175A>G	ENST00000373344.5	-	18	5049	c.4835T>C	c.(4834-4836)cTt>cCt	p.L1612P	ATRX_ENST00000395603.3_Missense_Mutation_p.L1574P|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1612	Helicase ATP-binding.				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)	GTCACACAAAAGAACTGTATG	0.328			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						10	19					0	0	1	0	0	G	76889175	A	G	76889175	3	3	168	1	0	0	0	0	1	0	0	0	1206	72	3	3	2715	3	ATRX	23	76889175	Missense_Mutation	SNP	A	TCGA-E1-A7YK-01A-11D-A34A-08	60	76889175	78381385	64	23592											
FAM127C	441518	broad.mit.edu	37	X	134156373	134156373	+	Silent	SNP	C	C	T			TCGA-E1-A7YK-01A-11D-A34A-08	TCGA-E1-A7YK-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b1cdb2e-1f87-4f81-b2e1-ccf5b7a821ac	da6047b6-cbe7-4459-a498-06489d228a5f	g.chrX:134156373C>T	ENST00000391440.1	-	1	186	c.117G>A	c.(115-117)cgG>cgA	p.R39R		NM_001078173.1	NP_001071641.1	Q17RB0	F127C_HUMAN	family with sequence similarity 127, member C	39										breast(1)|endometrium(2)|large_intestine(1)|lung(2)	6	Acute lymphoblastic leukemia(192;0.000127)					ACTCCGGGAGCCGGTCGGTAT	0.632													27	30					0	0	1	0	0	T	134156373	C	T	134156373	2	4	168	1	0	0	0	0	0	0	0	1	5464	726	26	2		2	FAM127C	23	134156373	Silent	SNP	C	TCGA-E1-A7YK-01A-11D-A34A-08	57267198	134156373	21114187	65	23593											
AKR7L	246181	broad.mit.edu	37	1	19596152	19596152	+	RNA	SNP	G	G	A			TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr1:19596152G>A	ENST00000420396.2	-	0	507				AKR7L_ENST00000429712.1_RNA					aldo-keto reductase family 7-like											breast(1)|endometrium(2)|ovary(1)|prostate(1)|urinary_tract(1)	6						TCCACCTGCCGGGTGGTGGCG	0.562													3	43					0	0	1	0	0	A	19596152	G	A	19596152	1	1	169	0	1	0	0	0	0	0	0	0	474	1115	39	1		1	AKR7L	1	19596152	RNA	SNP	G	TCGA-E1-A7YL-01A-11D-A34A-08		19596152	229654469	1	23594											
TRIT1	54802	broad.mit.edu	37	1	40315879	40315879	+	Silent	SNP	A	A	G			TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr1:40315879A>G	ENST00000316891.5	-	5	629	c.615T>C	c.(613-615)cgT>cgC	p.R205R	TRIT1_ENST00000537440.1_5'UTR|TRIT1_ENST00000537223.1_Intron|TRIT1_ENST00000441669.2_Silent_p.R125R|TRIT1_ENST00000545233.1_5'UTR|TRIT1_ENST00000372818.1_Silent_p.R205R|TRIT1_ENST00000491865.1_Intron|TRIT1_ENST00000541099.1_Intron	NM_017646.4	NP_060116.2	Q9H3H1	MOD5_HUMAN	tRNA isopentenyltransferase 1	205					tRNA processing	mitochondrion	ATP binding|metal ion binding|tRNA dimethylallyltransferase activity			breast(1)|large_intestine(5)|liver(1)|lung(3)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(1)	15	all_cancers(7;4.55e-14)|all_lung(5;1.23e-16)|all_epithelial(6;2.17e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;3.29e-18)|Epithelial(16;3.07e-17)|all cancers(16;6.21e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			CCGTATGTTGACGATGGAGAA	0.473													18	32					0	0	1	0	0	G	40315879	A	G	40315879	2	3	169	1	0	0	0	0	0	0	0	1	16621	262	10	3		3	TRIT1	1	40315879	Silent	SNP	A	TCGA-E1-A7YL-01A-11D-A34A-08	20719727	40315879	208934742	2	23595											
SPATA6	54558	broad.mit.edu	37	1	48764519	48764519	+	Missense_Mutation	SNP	A	A	G	rs138130686		TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr1:48764519A>G	ENST00000371847.3	-	13	1497	c.1333T>C	c.(1333-1335)Tac>Cac	p.Y445H	SPATA6_ENST00000371843.3_Missense_Mutation_p.Y429H|SPATA6_ENST00000396199.3_Missense_Mutation_p.Y373H	NM_019073.2	NP_061946.1	Q9NWH7	SPAT6_HUMAN	spermatogenesis associated 6	445					cell differentiation|multicellular organismal development|spermatogenesis	extracellular region				breast(1)|endometrium(2)|large_intestine(6)|lung(7)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	21						TTGGACCAGTATTCACCGTCA	0.413													31	80					0	0	1	0	0	G	48764519	A	G	48764519	3	3	169	1	0	0	0	0	1	0	0	0	15069	449	16	3	137	3	SPATA6	1	48764519	Missense_Mutation	SNP	A	TCGA-E1-A7YL-01A-11D-A34A-08	8448640	48764519	200486102	3	23596			1	17		2	2	27	N	C_A	5.962983e-05
SPATA6	54558	broad.mit.edu	37	1	48764545	48764545	+	Missense_Mutation	SNP	C	C	G			TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr1:48764545C>G	ENST00000371847.3	-	13	1471	c.1307G>C	c.(1306-1308)gGc>gCc	p.G436A	SPATA6_ENST00000371843.3_Missense_Mutation_p.G420A|SPATA6_ENST00000396199.3_Missense_Mutation_p.G364A	NM_019073.2	NP_061946.1	Q9NWH7	SPAT6_HUMAN	spermatogenesis associated 6	436					cell differentiation|multicellular organismal development|spermatogenesis	extracellular region				breast(1)|endometrium(2)|large_intestine(6)|lung(7)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	21						ATGGAAAGTGCCACGTGGCTG	0.388													32	71					0	0	1	0	0	G	48764545	C	G	48764545	3	3	169	1	0	0	0	0	1	0	0	0	15069	739	26	5	163	5	SPATA6	1	48764545	Missense_Mutation	SNP	C	TCGA-E1-A7YL-01A-11D-A34A-08	26	48764545	200486076	4	23597			1	17		2	2	27	N	C_A	5.962983e-05
NRD1	4898	broad.mit.edu	37	1	52258075	52258075	+	Missense_Mutation	SNP	C	C	G			TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr1:52258075C>G	ENST00000354831.7	-	27	3190	c.3001G>C	c.(3001-3003)Gaa>Caa	p.E1001Q	NRD1_ENST00000539524.1_Missense_Mutation_p.E869Q|NRD1_ENST00000485608.1_5'UTR|NRD1_ENST00000352171.7_Missense_Mutation_p.E933Q	NM_002525.2	NP_002516.2	O43847	NRDC_HUMAN	nardilysin (N-arginine dibasic convertase)	932					cell migration|cell proliferation|neuromuscular junction development|positive regulation of membrane protein ectodomain proteolysis|proteolysis|regulation of endopeptidase activity	cell surface|cytosol	epidermal growth factor binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)	27						AGCGTATATTCTCTTAGACTC	0.473													37	60					0	0	1	0	0	G	52258075	C	G	52258075	3	3	169	1	0	0	0	0	1	0	0	0	10693	922	32	4	686	4	NRD1	1	52258075	Missense_Mutation	SNP	C	TCGA-E1-A7YL-01A-11D-A34A-08	3493530	52258075	196992546	5	23598											
NRD1	4898	broad.mit.edu	37	1	52260509	52260509	+	Silent	SNP	C	C	A			TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr1:52260509C>A	ENST00000354831.7	-	25	3015	c.2826G>T	c.(2824-2826)ctG>ctT	p.L942L	NRD1_ENST00000544028.1_3'UTR|NRD1_ENST00000539524.1_Silent_p.L810L|RP4-657D16.3_ENST00000586761.1_RNA|RP4-657D16.3_ENST00000588291.1_RNA|NRD1_ENST00000485608.1_5'UTR|NRD1_ENST00000352171.7_Silent_p.L874L	NM_002525.2	NP_002516.2	O43847	NRDC_HUMAN	nardilysin (N-arginine dibasic convertase)	873					cell migration|cell proliferation|neuromuscular junction development|positive regulation of membrane protein ectodomain proteolysis|proteolysis|regulation of endopeptidase activity	cell surface|cytosol	epidermal growth factor binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)	27						CAACATATTTCAGGAAATCCA	0.358													36	111					5.71845e-15	6.44332e-15	1	1	0	A	52260509	C	A	52260509	2	1	169	1	0	0	0	0	0	0	0	1	10693	813	29	5		5	NRD1	1	52260509	Silent	SNP	C	TCGA-E1-A7YL-01A-11D-A34A-08	2434	52260509	196990112	6	23599											
TGFBR3	7049	broad.mit.edu	37	1	92182170	92182170	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr1:92182170C>T	ENST00000212355.4	-	11	2127	c.1662G>A	c.(1660-1662)atG>atA	p.M554I	TGFBR3_ENST00000370399.2_Missense_Mutation_p.M553I|TGFBR3_ENST00000525962.1_Missense_Mutation_p.M554I	NM_001195683.1|NM_003243.4	NP_001182612.1|NP_003234.2	Q03167	TGBR3_HUMAN	transforming growth factor, beta receptor III	554	ZP.				BMP signaling pathway|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cell growth|cell migration|definitive erythrocyte differentiation|heart trabecula formation|immune response|intracellular protein kinase cascade|liver development|negative regulation of cellular component movement|negative regulation of epithelial cell proliferation|palate development|pathway-restricted SMAD protein phosphorylation|response to follicle-stimulating hormone stimulus|response to luteinizing hormone stimulus|response to prostaglandin E stimulus|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis	external side of plasma membrane|extracellular space|inhibin-betaglycan-ActRII complex|integral to plasma membrane|intracellular membrane-bounded organelle	coreceptor activity|heparin binding|PDZ domain binding|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type III|type II transforming growth factor beta receptor binding			endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3)	55		all_lung(203;0.00719)|Lung NSC(277;0.0268)		all cancers(265;0.0108)|Epithelial(280;0.0825)		CTCCTTCATCCATATCTCCCG	0.463													4	212					0	0	1	0	0	T	92182170	C	T	92182170	3	4	169	1	0	0	0	0	1	0	0	0	15883	594	21	2	921	2	TGFBR3	1	92182170	Missense_Mutation	SNP	C	TCGA-E1-A7YL-01A-11D-A34A-08	39921661	92182170	157068451	7	23600											
PTPN22	26191	broad.mit.edu	37	1	114380493	114380493	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr1:114380493C>T	ENST00000359785.5	-	13	1664	c.1529G>A	c.(1528-1530)cGt>cAt	p.R510H	PTPN22_ENST00000538253.1_Missense_Mutation_p.R266H|PTPN22_ENST00000525799.1_Missense_Mutation_p.R383H|PTPN22_ENST00000528414.1_Missense_Mutation_p.R455H|PTPN22_ENST00000460620.1_Intron|PTPN22_ENST00000420377.2_Missense_Mutation_p.R510H	NM_001193431.1|NM_015967.5	NP_001180360.1|NP_057051	Q9Y2R2	PTN22_HUMAN	protein tyrosine phosphatase, non-receptor type 22 (lymphoid)	510					negative regulation of T cell activation|negative regulation of T cell receptor signaling pathway|phosphoanandamide dephosphorylation|regulation of B cell receptor signaling pathway|regulation of natural killer cell proliferation|T cell differentiation	internal side of plasma membrane|nucleus|perinuclear region of cytoplasm	kinase binding|protein tyrosine phosphatase activity|SH3 domain binding			NS(1)|breast(1)|kidney(3)|large_intestine(4)|lung(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Lung SC(450;0.184)	all_cancers(81;1.93e-08)|all_epithelial(167;4.37e-08)|all_lung(203;5.22e-06)|Lung NSC(69;8.94e-06)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		AGAGGCATTACGTATTTGGTG	0.368													34	59					0	0	1	0	0	T	114380493	C	T	114380493	3	4	169	1	0	0	0	0	1	0	0	0	12839	536	19	1	953	1	PTPN22	1	114380493	Missense_Mutation	SNP	C	TCGA-E1-A7YL-01A-11D-A34A-08	22198323	114380493	134870128	8	23601											
IGSF3	3321	broad.mit.edu	37	1	117122291	117122291	+	Missense_Mutation	SNP	C	C	G			TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr1:117122291C>G	ENST00000369486.3	-	10	3822	c.3057G>C	c.(3055-3057)gaG>gaC	p.E1019D	IGSF3_ENST00000318837.6_Missense_Mutation_p.E1039D|IGSF3_ENST00000369483.1_Missense_Mutation_p.E1039D	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3	1019	Ig-like C2-type 8.					integral to membrane				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		cgtcgtcgtcctcctcctcct	0.637													4	17					0	0	1	0	0	G	117122291	C	G	117122291	3	3	169	1	0	0	0	0	1	0	0	0	7645	680	24	4	535	4	IGSF3	1	117122291	Missense_Mutation	SNP	C	TCGA-E1-A7YL-01A-11D-A34A-08	2741798	117122291	132128330	9	23602											
MRPS21	54460	broad.mit.edu	37	1	150266802	150266802	+	Missense_Mutation	SNP	A	A	C			TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr1:150266802A>C	ENST00000369084.5	+	1	463	c.16A>C	c.(16-18)Aag>Cag	p.K6Q	MRPS21_ENST00000309092.7_Missense_Mutation_p.K6Q	NM_018997.3	NP_061870.1	P82921	RT21_HUMAN	mitochondrial ribosomal protein S21	6					translation	mitochondrial small ribosomal subunit	structural constituent of ribosome			kidney(1)|large_intestine(1)|lung(1)|pancreas(1)	4	Lung NSC(24;5.57e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			AAAACATCTGAAGTTCATCGC	0.463													19	32					0	0	1	0	0	C	150266802	A	C	150266802	3	2	169	1	0	0	0	0	1	0	0	0	9881	247	9	5	18	5	MRPS21	1	150266802	Missense_Mutation	SNP	A	TCGA-E1-A7YL-01A-11D-A34A-08	33144511	150266802	98983819	10	23603											
PFKFB2	5208	broad.mit.edu	37	1	207245685	207245685	+	Missense_Mutation	SNP	G	G	C			TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr1:207245685G>C	ENST00000367080.3	+	15	1611	c.1487G>C	c.(1486-1488)cGt>cCt	p.R496P	PFKFB2_ENST00000541914.1_Intron|PFKFB2_ENST00000367079.2_Intron|PFKFB2_ENST00000473310.1_Intron|PFKFB2_ENST00000411990.2_Intron|PFKFB2_ENST00000545806.1_Missense_Mutation_p.R463P	NM_006212.2	NP_006203.2	O60825	F262_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 2	496	Fructose-2,6-bisphosphatase.				fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	20	Prostate(682;0.19)					AGCCCTCTCCGTGCCCAGGAC	0.572													3	55					0	0	1	0	0	C	207245685	G	C	207245685	3	2	169	1	0	0	0	0	1	0	0	0	11809	1145	40	5	1541	5	PFKFB2	1	207245685	Missense_Mutation	SNP	G	TCGA-E1-A7YL-01A-11D-A34A-08	56978883	207245685	42004936	11	23604											
OR2T12	127064	broad.mit.edu	37	1	248458221	248458221	+	Silent	SNP	G	G	A			TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr1:248458221G>A	ENST00000317996.1	-	1	659	c.660C>T	c.(658-660)ctC>ctT	p.L220L		NM_001004692.1	NP_001004692.1	Q8NG77	O2T12_HUMAN	olfactory receptor, family 2, subfamily T, member 12	220					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0201)			GAACAGCAGCGAGGATGAGAC	0.532													37	61					0	0	1	0	0	A	248458221	G	A	248458221	2	1	169	1	0	0	0	0	0	0	0	1	11067	1045	37	1		1	OR2T12	1	248458221	Silent	SNP	G	TCGA-E1-A7YL-01A-11D-A34A-08	41212536	248458221	792400	12	23605											
ATAD2B	54454	broad.mit.edu	37	2	23974944	23974944	+	Missense_Mutation	SNP	G	G	T			TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr2:23974944G>T	ENST00000238789.5	-	28	4692	c.4349C>A	c.(4348-4350)aCa>aAa	p.T1450K	ATAD2B_ENST00000474583.1_5'UTR	NM_001242338.1|NM_017552.2	NP_001229267.1|NP_060022.1	Q9ULI0	ATD2B_HUMAN	ATPase family, AAA domain containing 2B	1450							ATP binding|nucleoside-triphosphatase activity			central_nervous_system(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CATATGAACTGTTCTTTCCAT	0.348													2	1					1	1	1	1	0	T	23974944	G	T	23974944	3	4	169	1	0	0	0	0	1	0	0	0	1071	1377	48	5	31	5	ATAD2B	2	23974944	Missense_Mutation	SNP	G	TCGA-E1-A7YL-01A-11D-A34A-08		23974944	219224429	13	23606											
HK2	3099	broad.mit.edu	37	2	75113620	75113620	+	Missense_Mutation	SNP	C	C	T	rs138539339		TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr2:75113620C>T	ENST00000290573.2	+	15	2639	c.2039C>T	c.(2038-2040)aCg>aTg	p.T680M	HK2_ENST00000409174.1_Missense_Mutation_p.T652M	NM_000189.4	NP_000180.2	P52789	HXK2_HUMAN	hexokinase 2	680	Catalytic.				apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane	ATP binding|glucokinase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	43						TTGGCAGGCACGGGCAGCAAT	0.597													17	40					0	0	1	0	0	T	75113620	C	T	75113620	3	4	169	1	0	0	0	0	1	0	0	0	7232	536	19	1	2097	1	HK2	2	75113620	Missense_Mutation	SNP	C	TCGA-E1-A7YL-01A-11D-A34A-08	51138676	75113620	168085753	14	23607											
CACNB4	785	broad.mit.edu	37	2	152955496	152955496	+	Frame_Shift_Del	DEL	C	C	-			TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr2:152955496delC	ENST00000539935.1	-	1	97	c.30delG	c.(28-30)gggfs	p.G10fs	AC079790.2_ENST00000420365.1_RNA|CACNB4_ENST00000201943.5_Frame_Shift_Del_p.G10fs	NM_000726.3|NM_001145798.1	NP_000717.2|NP_001139270.1	O00305	CACB4_HUMAN	calcium channel, voltage-dependent, beta 4 subunit	10					axon guidance|membrane depolarization|synaptic transmission	cytosol|internal side of plasma membrane|plasma membrane|synapse|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11				BRCA - Breast invasive adenocarcinoma(221;0.156)	Verapamil(DB00661)	CGTCCGCGGTCCCGTTCTTGG	0.716													2	4	---	---	---	---						-	152955496	C	-	152955496	7	5	169	1	0	1	0	1	0	0	0	0	2573	842	30	0	1650	0	CACNB4	2	152955496	Frame_Shift_Del	DEL	C	TCGA-E1-A7YL-01A-11D-A34A-08	77841876	152955496	90243877	15	23608											
TTN	7273	broad.mit.edu	37	2	179591950	179591950	+	Nonsense_Mutation	SNP	G	G	T			TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr2:179591950G>T	ENST00000589042.1	-	69	20366	c.20142C>A	c.(20140-20142)taC>taA	p.Y6714*	TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Nonsense_Mutation_p.Y6397*|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Nonsense_Mutation_p.Y5470*	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	6397	Ig-like 48.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AAGTCATTCTGTACTTATCAC	0.458													14	35					1.5842e-08	1.68981e-08	1	1	0	T	179591950	G	T	179591950	4	4	169	1	0	0	0	0	0	1	0	0	16797	1372	48	5	84563	5	TTN	2	179591950	Nonsense_Mutation	SNP	G	TCGA-E1-A7YL-01A-11D-A34A-08	26636454	179591950	63607423	16	23609											
ATP2B2	491	broad.mit.edu	37	3	10491154	10491154	+	Missense_Mutation	SNP	C	C	A			TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr3:10491154C>A	ENST00000397077.1	-	4	649	c.74G>T	c.(73-75)gGg>gTg	p.G25V	ATP2B2_ENST00000343816.4_Missense_Mutation_p.G25V|ATP2B2_ENST00000360273.2_Missense_Mutation_p.G25V|ATP2B2_ENST00000383800.4_Missense_Mutation_p.G25V|ATP2B2_ENST00000352432.4_Missense_Mutation_p.G25V			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	25					ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						CATTGTGCACCCGAACTCGCC	0.577													15	64					3.27435e-08	3.44669e-08	1	1	0	A	10491154	C	A	10491154	3	1	169	1	0	0	0	0	1	0	0	0	1139	623	22	5	3745	5	ATP2B2	3	10491154	Missense_Mutation	SNP	C	TCGA-E1-A7YL-01A-11D-A34A-08		10491154	187531276	17	23610											
CACNA1D	776	broad.mit.edu	37	3	53769491	53769491	+	Silent	SNP	C	C	T	rs148699423		TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr3:53769491C>T	ENST00000288139.4	+	21	2890	c.2772C>T	c.(2770-2772)gcC>gcT	p.A924A	CACNA1D_ENST00000422281.2_Silent_p.A904A|CACNA1D_ENST00000350061.5_Silent_p.A904A	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit						axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	CTGCCCTGGCCGCAGAGGACC	0.627													37	63					0	0	1	0	0	T	53769491	C	T	53769491	2	4	169	1	0	0	0	0	0	0	0	1	2559	639	23	1		1	CACNA1D	3	53769491	Silent	SNP	C	TCGA-E1-A7YL-01A-11D-A34A-08	43278337	53769491	144252939	18	23611											
PLOD2	5352	broad.mit.edu	37	3	145796957	145796957	+	Missense_Mutation	SNP	A	A	C			TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr3:145796957A>C	ENST00000282903.5	-	13	1623	c.1446T>G	c.(1444-1446)ttT>ttG	p.F482L	PLOD2_ENST00000461497.1_Missense_Mutation_p.F142L|RP11-274H2.2_ENST00000480247.1_RNA|PLOD2_ENST00000494950.1_Missense_Mutation_p.F427L|PLOD2_ENST00000360060.3_Missense_Mutation_p.F482L	NM_182943.2	NP_891988.1	O00469	PLOD2_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2	482					protein modification process|response to hypoxia	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29					Vitamin C(DB00126)	TATCACGAACAAAATAGTTCC	0.378													42	74					0	0	1	0	0	C	145796957	A	C	145796957	3	2	169	1	0	0	0	0	1	0	0	0	12150	127	5	5	862	5	PLOD2	3	145796957	Missense_Mutation	SNP	A	TCGA-E1-A7YL-01A-11D-A34A-08	92027466	145796957	52225473	19	23612											
KIT	3815	broad.mit.edu	37	4	55589817	55589817	+	Missense_Mutation	SNP	C	C	A			TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr4:55589817C>A	ENST00000288135.5	+	8	1396	c.1299C>A	c.(1297-1299)ttC>ttA	p.F433L		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	433	Ig-like C2-type 5.				male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular space|integral to membrane	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity			NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	CAGCAGGATTCCCAGAGCCCA	0.458		1	"Mis, O"		"GIST, AML, TGCT, mastocytosis, mucosal melanoma"	"GIST, epithelioma"	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors				20	38					9.22233e-05	9.33907e-05	1	1	0	A	55589817	C	A	55589817	3	1	169	1	0	0	0	0	1	0	0	0	8372	854	30	5	1329	5	KIT	4	55589817	Missense_Mutation	SNP	C	TCGA-E1-A7YL-01A-11D-A34A-08		55589817	135564459	20	23613											
MANBA	4126	broad.mit.edu	37	4	103585858	103585858	+	Missense_Mutation	SNP	C	C	G			TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr4:103585858C>G	ENST00000226578.4	-	11	1568	c.1469G>C	c.(1468-1470)aGa>aCa	p.R490T	MANBA_ENST00000505239.1_Missense_Mutation_p.R433T	NM_005908.3	NP_005899.3	O00462	MANBA_HUMAN	mannosidase, beta A, lysosomal	490					carbohydrate metabolic process|protein modification process	lysosome	beta-mannosidase activity|cation binding			cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;4.44e-08)		TACGAGCTCTCTGATGTTTTT	0.433													31	85					0	0	1	0	0	G	103585858	C	G	103585858	3	3	169	1	0	0	0	0	1	0	0	0	9269	913	32	4	1198	4	MANBA	4	103585858	Missense_Mutation	SNP	C	TCGA-E1-A7YL-01A-11D-A34A-08	47996041	103585858	87568418	21	23614											
DCHS2	54798	broad.mit.edu	37	4	155157357	155157360	+	Frame_Shift_Del	DEL	TGAG	TGAG	-			TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr4:155157357_155157360delTGAG	ENST00000357232.4	-	25	7078_7081	c.7079_7082delCTCA	c.(7078-7083)actcatfs	p.TH2360fs		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2		Cadherin 21.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		AGACATTCCATGAGTGAGAAAACA	0.392													17	91	---	---	---	---						-	155157360	TGAG	-	155157357	7	5	169	1	0	1	0	1	0	0	0	0	4311	1464	51	0	1672	0	DCHS2	4	155157357	Frame_Shift_Del	DEL	TGAG	TCGA-E1-A7YL-01A-11D-A34A-08	51571499	155157357	35996919	22	23615											
ANKRD55	79722	broad.mit.edu	37	5	55472076	55472076	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr5:55472076C>T	ENST00000341048.4	-	4	366	c.215G>A	c.(214-216)cGt>cAt	p.R72H	ANKRD55_ENST00000504958.2_Missense_Mutation_p.R72H|ANKRD55_ENST00000513241.2_Missense_Mutation_p.R43H	NM_024669.2	NP_078945.2	Q3KP44	ANR55_HUMAN	ankyrin repeat domain 55	71										breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(1)	34		Lung NSC(810;8.69e-05)|Prostate(74;0.00634)|Breast(144;0.0334)|Ovarian(174;0.223)				GTCCGCTTGACGTCCAGAAAC	0.483													42	84					0	0	1	0	0	T	55472076	C	T	55472076	3	4	169	1	0	0	0	0	1	0	0	0	675	536	19	1	1665	1	ANKRD55	5	55472076	Missense_Mutation	SNP	C	TCGA-E1-A7YL-01A-11D-A34A-08		55472076	125443184	23	23616											
ZNF608	57507	broad.mit.edu	37	5	123980270	123980273	+	Frame_Shift_Del	DEL	TCTC	TCTC	-			TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr5:123980270_123980273delTCTC	ENST00000306315.5	-	5	4222_4225	c.3787_3790delGAGA	c.(3787-3792)gagaagfs	p.EK1263fs	ZNF608_ENST00000504926.1_Frame_Shift_Del_p.EK836fs	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	1263						intracellular	zinc ion binding			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		TTTAATTTCTTCTCTCTATCAAGT	0.387													37	71	---	---	---	---						-	123980273	TCTC	-	123980270	7	5	169	1	0	1	0	1	0	0	0	0	18091	1792	62	0	768	0	ZNF608	5	123980270	Frame_Shift_Del	DEL	TCTC	TCGA-E1-A7YL-01A-11D-A34A-08	68508194	123980270	56934990	24	23617											
PCDHGA7	56108	broad.mit.edu	37	5	140763942	140763942	+	Silent	SNP	C	C	T			TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr5:140763942C>T	ENST00000518325.1	+	1	1476	c.1476C>T	c.(1474-1476)gcC>gcT	p.A492A	PCDHGA5_ENST00000518069.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018920.2	NP_061743.1														NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATTCCTTGGCCGAAGACACCA	0.512													9	28					0	0	1	0	0	T	140763942	C	T	140763942	2	4	169	1	0	0	0	0	0	0	0	1	11606	639	23	1		1	PCDHGA7	5	140763942	Silent	SNP	C	TCGA-E1-A7YL-01A-11D-A34A-08	16783672	140763942	40151318	25	23618											
FAT2	2196	broad.mit.edu	37	5	150901599	150901599	+	Missense_Mutation	SNP	C	C	G			TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr5:150901599C>G	ENST00000261800.5	-	18	10567	c.10555G>C	c.(10555-10557)Gtc>Ctc	p.V3519L		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	3519	Cadherin 31.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GTGACATGGACACGGACAGAC	0.547													11	16					0	0	1	0	0	G	150901599	C	G	150901599	3	3	169	1	0	0	0	0	1	0	0	0	5723	478	17	5	2518	5	FAT2	5	150901599	Missense_Mutation	SNP	C	TCGA-E1-A7YL-01A-11D-A34A-08	10137657	150901599	30013661	26	23619											
SOX30	11063	broad.mit.edu	37	5	157078524	157078524	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr5:157078524G>A	ENST00000265007.6	-	1	904	c.563C>T	c.(562-564)gCg>gTg	p.A188V	SOX30_ENST00000519442.1_Intron|SOX30_ENST00000311371.5_Missense_Mutation_p.A188V	NM_178424.1	NP_848511.1	O94993	SOX30_HUMAN	SRY (sex determining region Y)-box 30	188					regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|response to corticosteroid stimulus|transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	23	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GACCTCCTCCGCCTCCAGCTT	0.642													37	71					0	0	1	0	0	A	157078524	G	A	157078524	3	1	169	1	0	0	0	0	1	0	0	0	15006	1087	38	1	1718	1	SOX30	5	157078524	Missense_Mutation	SNP	G	TCGA-E1-A7YL-01A-11D-A34A-08	6176925	157078524	23836736	27	23620											
LRRC16A	55604	broad.mit.edu	37	6	25600786	25600786	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr6:25600786C>T	ENST00000329474.6	+	33	3732	c.3364C>T	c.(3364-3366)Cgg>Tgg	p.R1122W		NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN	leucine rich repeat containing 16A	1122					actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process	cytosol|lamellipodium|nucleus				breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						CAATTCTGAACGGATAGAGGA	0.532													15	33					0	0	1	0	0	T	25600786	C	T	25600786	3	4	169	1	0	0	0	0	1	0	0	0	9016	527	19	1	3494	1	LRRC16A	6	25600786	Missense_Mutation	SNP	C	TCGA-E1-A7YL-01A-11D-A34A-08		25600786	145514281	28	23621											
DNAH11	8701	broad.mit.edu	37	7	21906265	21906265	+	Missense_Mutation	SNP	A	A	G	rs72658813		TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr7:21906265A>G	ENST00000328843.6	+	72	11726	c.11695A>G	c.(11695-11697)Atg>Gtg	p.M3899V	DNAH11_ENST00000409508.3_Missense_Mutation_p.M3892V			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	3899					microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						CCCTGACAGAATGACGTATGC	0.408									Kartagener syndrome				12	31					0	0	1	0	0	G	21906265	A	G	21906265	3	3	169	1	0	0	0	0	1	0	0	0	4627	101	4	3	11978	3	DNAH11	7	21906265	Missense_Mutation	SNP	A	TCGA-E1-A7YL-01A-11D-A34A-08		21906265	137232398	29	23622											
ZAN	7455	broad.mit.edu	37	7	100388502	100388502	+	RNA	DEL	A	A	-	rs5886138		TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr7:100388502delA	ENST00000542585.1	+	0	7502				ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000538115.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			aagactgtctaaaaaaaaaaa	0.522													3	5	---	---	---	---						-	100388502	A	-	100388502	6	5	169	0	1	1	0	1	0	0	0	0	17573	377	13	0		0	ZAN	7	100388502	RNA	DEL	A	TCGA-E1-A7YL-01A-11D-A34A-08	78482237	100388502	58750161	30	23623											
ADAM28	10863	broad.mit.edu	37	8	24197031	24197031	+	Silent	SNP	G	G	A			TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr8:24197031G>A	ENST00000265769.4	+	15	1730	c.1620G>A	c.(1618-1620)aaG>aaA	p.K540K	RP11-624C23.1_ENST00000523700.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000518988.1_RNA|ADAM28_ENST00000397649.3_Silent_p.K287K	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28	540	Cys-rich.				proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		GTGGGTCAAAGTACGGGTACT	0.458													6	13					0	0	1	0	0	A	24197031	G	A	24197031	2	1	169	1	0	0	0	0	0	0	0	1	245	1020	36	2		2	ADAM28	8	24197031	Silent	SNP	G	TCGA-E1-A7YL-01A-11D-A34A-08		24197031	122166991	31	23624											
SCARA5	286133	broad.mit.edu	37	8	27779582	27779582	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr8:27779582G>A	ENST00000354914.3	-	4	907	c.422C>T	c.(421-423)gCg>gTg	p.A141V	SCARA5_ENST00000518030.1_Missense_Mutation_p.A98V|SCARA5_ENST00000301906.4_Missense_Mutation_p.A98V|SCARA5_ENST00000524352.1_Missense_Mutation_p.A141V|SCARA5_ENST00000380385.2_Intron	NM_173833.5	NP_776194.2	Q6ZMJ2	SCAR5_HUMAN	scavenger receptor class A, member 5 (putative)	141					cellular iron ion homeostasis|endocytosis|iron ion transmembrane transport|protein homotrimerization	integral to plasma membrane	ferritin receptor activity|scavenger receptor activity			central_nervous_system(1)|large_intestine(6)|lung(5)|prostate(3)|skin(3)	18		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)|Colorectal(74;0.228)		GCCCGCCAGCGCCAGCAACGA	0.721													3	4					0	0	1	0	0	A	27779582	G	A	27779582	3	1	169	1	0	0	0	0	1	0	0	0	13933	1087	38	1	1089	1	SCARA5	8	27779582	Missense_Mutation	SNP	G	TCGA-E1-A7YL-01A-11D-A34A-08	3582551	27779582	118584440	32	23625											
HMBOX1	79618	broad.mit.edu	37	8	28906544	28906544	+	Silent	SNP	C	C	T			TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr8:28906544C>T	ENST00000397358.3	+	10	1808	c.1104C>T	c.(1102-1104)gaC>gaT	p.D368D	HMBOX1_ENST00000517386.1_3'UTR|HMBOX1_ENST00000444075.1_Silent_p.D367D|HMBOX1_ENST00000558662.1_Silent_p.D367D|HMBOX1_ENST00000523613.1_Silent_p.D368D|HMBOX1_ENST00000287701.10_Silent_p.D368D|HMBOX1_ENST00000355231.5_Silent_p.D367D|HMBOX1_ENST00000524238.1_Silent_p.D367D|HMBOX1_ENST00000519047.1_Silent_p.D367D	NM_024567.3	NP_078843.2	Q6NT76	HMBX1_HUMAN	homeobox containing 1	368					negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	11		Ovarian(32;0.0192)		KIRC - Kidney renal clear cell carcinoma(542;0.135)|Kidney(114;0.161)		ATGATGTCGACGGGAATGACT	0.532													4	105					0	0	1	0	0	T	28906544	C	T	28906544	2	4	169	1	0	0	0	0	0	0	0	1	7259	535	19	1		1	HMBOX1	8	28906544	Silent	SNP	C	TCGA-E1-A7YL-01A-11D-A34A-08	1126962	28906544	117457478	33	23626											
VPS13B	157680	broad.mit.edu	37	8	100520058	100520058	+	Missense_Mutation	SNP	C	C	G			TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr8:100520058C>G	ENST00000358544.2	+	28	4329	c.4218C>G	c.(4216-4218)gaC>gaG	p.D1406E	VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Intron	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	1406					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			CCTGTACTGACAAGCTGAACA	0.458													29	74					0	0	1	0	0	G	100520058	C	G	100520058	3	3	169	1	0	0	0	0	1	0	0	0	17250	477	17	5	4518	5	VPS13B	8	100520058	Missense_Mutation	SNP	C	TCGA-E1-A7YL-01A-11D-A34A-08	71613514	100520058	45843964	34	23627											
GSDMC	56169	broad.mit.edu	37	8	130789733	130789733	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr8:130789733C>T	ENST00000276708.4	-	2	982	c.101G>A	c.(100-102)cGt>cAt	p.R34H		NM_031415.2	NP_113603.1	Q9BYG8	GSDMC_HUMAN	gasdermin C	34						mitochondrion		p.R34H(1)		autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	26						AACAAACTGACGTAATTTGGT	0.403													42	53					0	0	1	0	0	T	130789733	C	T	130789733	3	4	169	1	0	0	0	0	1	0	0	0	6859	536	19	1	1477	1	GSDMC	8	130789733	Missense_Mutation	SNP	C	TCGA-E1-A7YL-01A-11D-A34A-08	30269675	130789733	15574289	35	23628											
ST6GALNAC6	30815	broad.mit.edu	37	9	130648958	130648960	+	In_Frame_Del	DEL	GGT	GGT	-	rs144896495		TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr9:130648958_130648960delGGT	ENST00000373146.1	-	7	1099_1101	c.920_922delACC	c.(919-924)caccgc>cgc	p.H307del	ST6GALNAC6_ENST00000373142.1_In_Frame_Del_p.T306del|ST6GALNAC6_ENST00000291839.5_In_Frame_Del_p.H307del|ST6GALNAC6_ENST00000373141.1_In_Frame_Del_p.H273del|ST6GALNAC6_ENST00000373144.3_In_Frame_Del_p.H273del|ST6GALNAC6_ENST00000485320.1_5'UTR|ST6GALNAC6_ENST00000542456.1_In_Frame_Del_p.H107del|RP11-203J24.9_ENST00000476274.2_RNA			Q969X2	SIA7F_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 6	307					protein glycosylation	integral to Golgi membrane|plasma membrane				endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						GTGATGAAGCGGTGGTGGTTGCC	0.616													17	53	---	---	---	---						-	130648960	GGT	-	130648958	7	5	169	1	0	1	0	1	0	0	0	0	15284	1116	39	0	83	0	ST6GALNAC6	9	130648958	In_Frame_Del	DEL	GGT	TCGA-E1-A7YL-01A-11D-A34A-08		130648958	10564473	36	23629											
MLLT10	8028	broad.mit.edu	37	10	22022944	22022944	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr10:22022944C>T	ENST00000377072.3	+	21	3140	c.2792C>T	c.(2791-2793)gCt>gTt	p.A931V	MLLT10_ENST00000446906.2_Missense_Mutation_p.A915V|MLLT10_ENST00000377059.3_Missense_Mutation_p.A915V|MLLT10_ENST00000307729.7_Missense_Mutation_p.A915V	NM_004641.3	NP_004632.1	P55197	AF10_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10	931					positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						ATTGTAGGAGCTTTAAATGGG	0.498			T	"MLL, PICALM, CDK6"	AL								19	15					0	0	1	0	0	T	22022944	C	T	22022944	3	4	169	1	0	0	0	0	1	0	0	0	9674	797	28	2	2870	2	MLLT10	10	22022944	Missense_Mutation	SNP	C	TCGA-E1-A7YL-01A-11D-A34A-08		22022944	113511803	37	23630											
ERCC6	2074	broad.mit.edu	37	10	50669556	50669556	+	Silent	SNP	G	G	A			TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr10:50669556G>A	ENST00000355832.5	-	19	3903	c.3825C>T	c.(3823-3825)gcC>gcT	p.A1275A	ERCC6_ENST00000465653.1_5'UTR|RP11-123B3.2_ENST00000423283.1_RNA|ERCC6_ENST00000542458.1_Silent_p.A645A	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 6	1275					base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding			breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						AATCTGGGCTGGCTCCATCCA	0.512								Direct reversal of damage;Nucleotide excision repair (NER)					10	15					0	0	1	0	0	A	50669556	G	A	50669556	2	1	169	1	0	0	0	0	0	0	0	1	5245	1335	47	2		2	ERCC6	10	50669556	Silent	SNP	G	TCGA-E1-A7YL-01A-11D-A34A-08	28646612	50669556	84865191	38	23631											
CYP2C8	1558	broad.mit.edu	37	10	96824643	96824643	+	Nonsense_Mutation	SNP	G	G	A	rs72558195	byFrequency	TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr10:96824643G>A	ENST00000371270.3	-	4	650	c.556C>T	c.(556-558)Cga>Tga	p.R186*	CYP2C8_ENST00000535898.1_Nonsense_Mutation_p.R84*|CYP2C8_ENST00000539050.1_Nonsense_Mutation_p.R100*	NM_000770.3|NM_001198853.1|NM_001198855.1	NP_000761.3|NP_001185782.1|NP_001185784.1	P10632	CP2C8_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 8	186					exogenous drug catabolic process|organic acid metabolic process|oxidative demethylation|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|electron carrier activity|heme binding|oxygen binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|skin(3)	21		Colorectal(252;0.0397)		all cancers(201;6.21e-05)	Aminophenazone(DB01424)|Amiodarone(DB01118)|Amodiaquine(DB00613)|Benzphetamine(DB00865)|Carbamazepine(DB00564)|Cerivastatin(DB00439)|Diclofenac(DB00586)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lovastatin(DB00227)|Midazolam(DB00683)|Montelukast(DB00471)|Nicardipine(DB00622)|Paclitaxel(DB01229)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rifampin(DB01045)|Rosiglitazone(DB00412)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Tolbutamide(DB01124)|Torasemide(DB00214)|Tretinoin(DB00755)|Trimethoprim(DB00440)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zopiclone(DB01198)	TAATCAAATCGTTTCTGGAAA	0.388													40	34					0	0	1	0	0	A	96824643	G	A	96824643	4	1	169	1	0	0	0	0	0	1	0	0	4190	1153	40	1	940	1	CYP2C8	10	96824643	Nonsense_Mutation	SNP	G	TCGA-E1-A7YL-01A-11D-A34A-08	46155087	96824643	38710104	39	23632											
CDHR5	53841	broad.mit.edu	37	11	618782	618782	+	Nonsense_Mutation	SNP	G	G	A			TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr11:618782G>A	ENST00000358353.3	-	14	2099	c.1777C>T	c.(1777-1779)Caa>Taa	p.Q593*	CDHR5_ENST00000349570.7_Intron|CDHR5_ENST00000397542.2_Nonsense_Mutation_p.Q593*			Q9HBB8	CDHR5_HUMAN	cadherin-related family member 5	593	4 X 31 AA approximate tandem repeats.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	23						GTGGCTGGTTGGTGGGAGGTG	0.662													6	161					0	0	1	0	0	A	618782	G	A	618782	4	1	169	1	0	0	0	0	0	1	0	0	3144	1357	47	2	772	2	CDHR5	11	618782	Nonsense_Mutation	SNP	G	TCGA-E1-A7YL-01A-11D-A34A-08		618782	134387734	40	23633											
OR5M8	219484	broad.mit.edu	37	11	56258392	56258392	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr11:56258392G>A	ENST00000327216.2	-	1	479	c.455C>T	c.(454-456)gCg>gTg	p.A152V		NM_001005282.1	NP_001005282.1	Q8NGP6	OR5M8_HUMAN	olfactory receptor, family 5, subfamily M, member 8	152					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A152V(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(22)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Esophageal squamous(21;0.00352)					GCCAGTGAGCGCTCCATACAC	0.512													12	36					0	0	1	0	0	A	56258392	G	A	56258392	3	1	169	1	0	0	0	0	1	0	0	0	11223	1087	38	1	484	1	OR5M8	11	56258392	Missense_Mutation	SNP	G	TCGA-E1-A7YL-01A-11D-A34A-08	55639610	56258392	78748124	41	23634											
SHANK2	22941	broad.mit.edu	37	11	70331643	70331643	+	Silent	SNP	C	C	T	rs144792130	byFrequency	TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr11:70331643C>T	ENST00000338508.4	-	32	4757	c.4758G>A	c.(4756-4758)ccG>ccA	p.P1586P	SHANK2_ENST00000423696.2_Silent_p.P1206P|SHANK2_ENST00000409161.1_Silent_p.P989P|SHANK2_ENST00000449833.2_Silent_p.P990P			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	1206					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			CACTgcccggcgggggcgggg	0.582													51	45					0	0	1	0	0	T	70331643	C	T	70331643	2	4	169	1	0	0	0	0	0	0	0	1	14320	755	27	1		1	SHANK2	11	70331643	Silent	SNP	C	TCGA-E1-A7YL-01A-11D-A34A-08	14073251	70331643	64674873	42	23635											
GAB2	9846	broad.mit.edu	37	11	77961363	77961363	+	Nonsense_Mutation	SNP	G	G	A			TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr11:77961363G>A	ENST00000361507.4	-	3	545	c.460C>T	c.(460-462)Cga>Tga	p.R154*	GAB2_ENST00000526030.1_Intron|GAB2_ENST00000340149.2_Nonsense_Mutation_p.R116*	NM_080491.2	NP_536739.1	Q9UQC2	GAB2_HUMAN	GRB2-associated binding protein 2	154					osteoclast differentiation|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mast cell degranulation	cytosol|plasma membrane	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|transmembrane receptor protein tyrosine kinase adaptor activity		INTS4/GAB2(2)	NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(14;3.31e-18)|all_epithelial(13;5.3e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.58e-23)			TTGCGCTCTCGGAGAAGGTGC	0.567													31	50					0	0	1	0	0	A	77961363	G	A	77961363	4	1	169	1	0	0	0	0	0	1	0	0	6184	1124	39	1	1602	1	GAB2	11	77961363	Nonsense_Mutation	SNP	G	TCGA-E1-A7YL-01A-11D-A34A-08	7629720	77961363	57045153	43	23636											
APLP2	334	broad.mit.edu	37	11	129996638	129996638	+	Silent	SNP	C	C	T			TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr11:129996638C>T	ENST00000263574.5	+	8	1206	c.1134C>T	c.(1132-1134)ttC>ttT	p.F378F	APLP2_ENST00000338167.5_Silent_p.F378F|APLP2_ENST00000539648.1_Silent_p.F166F|APLP2_ENST00000345598.5_Silent_p.F149F|APLP2_ENST00000278756.7_Silent_p.F388F|APLP2_ENST00000528499.1_Silent_p.F322F|APLP2_ENST00000543137.1_Silent_p.F285F	NM_001642.2	NP_001633.1	Q06481	APLP2_HUMAN	amyloid beta (A4) precursor-like protein 2	378					G-protein coupled receptor protein signaling pathway	integral to membrane|nucleus|plasma membrane	DNA binding|identical protein binding|serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_hematologic(175;0.0429)	Breast(109;0.00586)|Lung NSC(97;0.00785)|all_lung(97;0.0154)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0197)|Lung(977;0.24)		ATGTGTATTTCGAGACCTCTG	0.483													10	173					0	0	1	0	0	T	129996638	C	T	129996638	2	4	169	1	0	0	0	0	0	0	0	1	776	883	31	1		1	APLP2	11	129996638	Silent	SNP	C	TCGA-E1-A7YL-01A-11D-A34A-08	52035275	129996638	5009878	44	23637											
MYF6	4618	broad.mit.edu	37	12	81101560	81101560	+	Missense_Mutation	SNP	C	C	A			TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr12:81101560C>A	ENST00000228641.3	+	1	284	c.62C>A	c.(61-63)aCt>aAt	p.T21N		NM_002469.2	NP_002460.1	P23409	MYF6_HUMAN	myogenic factor 6 (herculin)	21					muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|skin(1)	26						GAAAATGTTACTCTGCAGCCA	0.522													23	49					4.4004e-07	4.57185e-07	1	1	0	A	81101560	C	A	81101560	3	1	169	1	0	0	0	0	1	0	0	0	10076	565	20	4	64	4	MYF6	12	81101560	Missense_Mutation	SNP	C	TCGA-E1-A7YL-01A-11D-A34A-08		81101560	52750335	45	23638											
TMEM132B	114795	broad.mit.edu	37	12	125900178	125900178	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr12:125900178C>T	ENST00000299308.3	+	3	1054	c.1046C>T	c.(1045-1047)tCg>tTg	p.S349L		NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	349						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		ACTCAGACGTCGGCCACCCTC	0.602													21	51					0	0	1	0	0	T	125900178	C	T	125900178	3	4	169	1	0	0	0	0	1	0	0	0	16106	893	31	1	1056	1	TMEM132B	12	125900178	Missense_Mutation	SNP	C	TCGA-E1-A7YL-01A-11D-A34A-08	44798618	125900178	7951717	46	23639											
SPRY2	10253	broad.mit.edu	37	13	80910949	80910952	+	Frame_Shift_Del	DEL	TGTT	TGTT	-			TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr13:80910949_80910952delTGTT	ENST00000377102.1	-	2	1866_1869	c.889_892delAACA	c.(889-894)aacacafs	p.NT297fs	SPRY2_ENST00000540649.1_Frame_Shift_Del_p.NT297fs|SPRY2_ENST00000377104.3_Frame_Shift_Del_p.NT297fs			O43597	SPY2_HUMAN	sprouty homolog 2 (Drosophila)	297	Cys-rich.				epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of ERK1 and ERK2 cascade|positive regulation of gene expression|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein kinase B signaling cascade	cytosol|microtubule|ruffle membrane	protein serine/threonine kinase activator activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	12	Medulloblastoma(90;0.18)	Acute lymphoblastic leukemia(28;0.218)|Breast(118;0.244)		GBM - Glioblastoma multiforme(99;0.0318)		CAGCAAACTGTGTTTGAGTTTTTA	0.436													10	18	---	---	---	---						-	80910952	TGTT	-	80910949	7	5	169	1	0	1	0	1	0	0	0	0	15162	1696	59	0	59	0	SPRY2	13	80910949	Frame_Shift_Del	DEL	TGTT	TCGA-E1-A7YL-01A-11D-A34A-08		80910949	34258929	47	23640											
FMN1	342184	broad.mit.edu	37	15	33260987	33260987	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr15:33260987C>T	ENST00000334528.9	-	4	2245	c.2246G>A	c.(2245-2247)cGa>cAa	p.R749Q	FMN1_ENST00000561249.1_Missense_Mutation_p.R874Q|FMN1_ENST00000559047.1_Missense_Mutation_p.R972Q	NM_001103184.2	NP_001096654.1	Q68DA7	FMN1_HUMAN	formin 1	972	Mediates interaction with alpha-catenin (By similarity).				actin cytoskeleton organization	actin cytoskeleton|adherens junction|cytoplasm|nucleus	actin binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)		GGCTGGTTTTCGAGGACATTG	0.537													39	72					0	0	1	0	0	T	33260987	C	T	33260987	3	4	169	1	0	0	0	0	1	0	0	0	5982	884	31	1	1400	1	FMN1	15	33260987	Missense_Mutation	SNP	C	TCGA-E1-A7YL-01A-11D-A34A-08		33260987	69270405	48	23641											
ACAN	176	broad.mit.edu	37	15	89398503	89398503	+	Missense_Mutation	SNP	C	C	A			TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr15:89398503C>A	ENST00000439576.2	+	12	3061	c.2687C>A	c.(2686-2688)tCt>tAt	p.S896Y	ACAN_ENST00000561243.1_Missense_Mutation_p.S896Y|ACAN_ENST00000352105.7_Missense_Mutation_p.S896Y|ACAN_ENST00000559004.1_Missense_Mutation_p.S896Y	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	896					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			GGACTGCCCTCTGGAGACCTG	0.577													19	35					3.51602e-12	3.85317e-12	1	1	0	A	89398503	C	A	89398503	3	1	169	1	0	0	0	0	1	0	0	0	117	913	32	4	2729	4	ACAN	15	89398503	Missense_Mutation	SNP	C	TCGA-E1-A7YL-01A-11D-A34A-08	56137516	89398503	13132889	49	23642											
ABCC11	85320	broad.mit.edu	37	16	48201459	48201459	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr16:48201459C>T	ENST00000394747.1	-	28	4353	c.4004G>A	c.(4003-4005)cGt>cAt	p.R1335H	ABCC11_ENST00000394748.1_Missense_Mutation_p.R1335H|ABCC11_ENST00000356608.2_Missense_Mutation_p.R1335H|ABCC11_ENST00000353782.5_Missense_Mutation_p.R1297H|ABCC11_ENST00000565329.1_5'UTR	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	1335	ABC transporter 2.					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)				AGTGGTGACACGGTGGGCAAT	0.592													22	38					0	0	1	0	0	T	48201459	C	T	48201459	3	4	169	1	0	0	0	0	1	0	0	0	51	536	19	1	152	1	ABCC11	16	48201459	Missense_Mutation	SNP	C	TCGA-E1-A7YL-01A-11D-A34A-08		48201459	42153294	50	23643											
C16orf80	29105	broad.mit.edu	37	16	58149206	58149206	+	Silent	SNP	G	G	A			TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr16:58149206G>A	ENST00000262498.3	-	4	766	c.432C>T	c.(430-432)taC>taT	p.Y144Y	C16orf80_ENST00000562443.1_5'UTR	NM_013242.2	NP_037374.1	Q9Y6A4	CP080_HUMAN	chromosome 16 open reading frame 80	144					multicellular organismal development					kidney(1)|large_intestine(1)|lung(1)|prostate(1)	4						AATTGGTGCCGTATGCTCGCC	0.552													4	102					0	0	1	0	0	A	58149206	G	A	58149206	2	1	169	1	0	0	0	0	0	0	0	1	1844	1140	40	1		1	C16orf80	16	58149206	Silent	SNP	G	TCGA-E1-A7YL-01A-11D-A34A-08	9947747	58149206	32205547	51	23644											
CDYL2	124359	broad.mit.edu	37	16	80718705	80718705	+	Missense_Mutation	SNP	G	G	T			TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr16:80718705G>T	ENST00000570137.2	-	2	501	c.346C>A	c.(346-348)Cca>Aca	p.P116T	CDYL2_ENST00000566173.1_Missense_Mutation_p.P116T|CDYL2_ENST00000562753.1_5'UTR|CDYL2_ENST00000562812.1_Missense_Mutation_p.P116T|CDYL2_ENST00000563890.1_Missense_Mutation_p.P116T	NM_152342.2	NP_689555.2	Q8N8U2	CDYL2_HUMAN	chromodomain protein, Y-like 2							nucleus	catalytic activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	21						CCTTTTTTTGGCTTGGCCAGG	0.542													20	39					3.51602e-12	3.85317e-12	1	1	0	T	80718705	G	T	80718705	3	4	169	1	0	0	0	0	1	0	0	0	3208	1203	42	5	1198	5	CDYL2	16	80718705	Missense_Mutation	SNP	G	TCGA-E1-A7YL-01A-11D-A34A-08	22569499	80718705	9636048	52	23645											
TP53	7157	broad.mit.edu	37	17	7578236	7578236	+	Missense_Mutation	SNP	A	A	G			TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr17:7578236A>G	ENST00000420246.2	-	6	745	c.613T>C	c.(613-615)Tat>Cat	p.Y205H	TP53_ENST00000359597.4_Missense_Mutation_p.Y205H|TP53_ENST00000269305.4_Missense_Mutation_p.Y205H|TP53_ENST00000455263.2_Missense_Mutation_p.Y205H|TP53_ENST00000574684.1_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.Y205H|TP53_ENST00000413465.2_Missense_Mutation_p.Y205H	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	205	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Y -> C (in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in sporadic cancers; 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.Y205D(13)|p.0?(8)|p.Y205N(8)|p.?(5)|p.Y205H(5)|p.Y112N(2)|p.Y73N(2)|p.Y205fs*43(1)|p.Y205fs*42(1)|p.E204fs*39(1)|p.G199fs*42(1)|p.E204_N210delEYLDDRN(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)		TCATCCAAATACTCCACACGC	0.542		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)			14	29					0	0	1	0	0	G	7578236	A	G	7578236	3	3	169	1	0	0	0	0	1	0	0	0	16442	391	14	3	681	3	TP53	17	7578236	Missense_Mutation	SNP	A	TCGA-E1-A7YL-01A-11D-A34A-08		7578236	73616974	53	23646			2	18		3	3	299	N	C_A	2.326759e-07
TP53	7157	broad.mit.edu	37	17	7578406	7578406	+	Missense_Mutation	SNP	C	C	A	rs28934578		TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr17:7578406C>A	ENST00000420246.2	-	5	656	c.524G>T	c.(523-525)cGc>cTc	p.R175L	TP53_ENST00000359597.4_Missense_Mutation_p.R175L|TP53_ENST00000269305.4_Missense_Mutation_p.R175L|TP53_ENST00000455263.2_Missense_Mutation_p.R175L|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000445888.2_Missense_Mutation_p.R175L|TP53_ENST00000413465.2_Missense_Mutation_p.R175L	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	175	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> C (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; dbSNP:rs28934578).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> 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.R175H(847)|p.R43H(36)|p.R82H(36)|p.R175L(19)|p.0?(8)|p.R175P(6)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*5(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(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)		GTGGGGGCAGCGCCTCACAAC	0.652	R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY)	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)			3	58					2.56e-06	2.62564e-06	1	1	0	A	7578406	C	A	7578406	3	1	169	1	0	0	0	0	1	0	0	0	16442	768	27	5	774	5	TP53	17	7578406	Missense_Mutation	SNP	C	TCGA-E1-A7YL-01A-11D-A34A-08	170	7578406	73616804	54	23647			2	18		3	3	299	N	C_A	2.326759e-07
TP53	7157	broad.mit.edu	37	17	7578534	7578534	+	Missense_Mutation	SNP	C	C	G			TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr17:7578534C>G	ENST00000420246.2	-	5	528	c.396G>C	c.(394-396)aaG>aaC	p.K132N	TP53_ENST00000359597.4_Missense_Mutation_p.K132N|TP53_ENST00000269305.4_Missense_Mutation_p.K132N|TP53_ENST00000455263.2_Missense_Mutation_p.K132N|TP53_ENST00000445888.2_Missense_Mutation_p.K132N|TP53_ENST00000413465.2_Missense_Mutation_p.K132N	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	132	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		K -> E (in LFS; germline mutation and in sporadic cancers; somatic mutation).|K -> L (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|K -> M (in sporadic cancers; somatic mutation).|K -> N (in sporadic cancers; somatic mutation).|K -> Q (in sporadic cancers; somatic mutation).|K -> R (in sporadic cancers; somatic mutation).|K -> T (in sporadic cancers; somatic mutation).|K -> W (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|KM -> NL (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.K132N(49)|p.0?(8)|p.Y126_K132delYSPALNK(6)|p.K39N(2)|p.N131fs*27(2)|p.V73fs*9(1)|p.S127fs*36(1)|p.A129_K132delALNK(1)|p.Y126fs*11(1)|p.K132K(1)|p.K132_A138delKMFCQLA(1)|p.S127_Q136del10(1)|p.L130_M133delLNKM(1)|p.M133fs*37(1)|p.M133fs*16(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GGCAAAACATCTTGTTGAGGG	0.562		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)			12	17					0	0	1	0	0	G	7578534	C	G	7578534	3	3	169	1	0	0	0	0	1	0	0	0	16442	912	32	4	902	4	TP53	17	7578534	Missense_Mutation	SNP	C	TCGA-E1-A7YL-01A-11D-A34A-08	128	7578534	73616676	55	23648			2	18		3	3	299	N	C_A	2.326759e-07
MYH8	4626	broad.mit.edu	37	17	10312737	10312737	+	Missense_Mutation	SNP	C	C	A			TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr17:10312737C>A	ENST00000403437.2	-	16	1850	c.1756G>T	c.(1756-1758)Gct>Tct	p.A586S	RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	586	Myosin head-like.				muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						ACAGTGCCAGCATAGTGAATC	0.512									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				32	82					3.11337e-16	3.55814e-16	1	1	0	A	10312737	C	A	10312737	3	1	169	1	0	0	0	0	1	0	0	0	10089	710	25	5	4157	5	MYH8	17	10312737	Missense_Mutation	SNP	C	TCGA-E1-A7YL-01A-11D-A34A-08	2734203	10312737	70882473	56	23649											
CCDC144A	9720	broad.mit.edu	37	17	16593777	16593777	+	Silent	SNP	C	C	T			TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr17:16593777C>T	ENST00000443444.2	+	1	203	c.63C>T	c.(61-63)taC>taT	p.Y21Y	CCDC144A_ENST00000436374.1_3'UTR|CCDC144A_ENST00000456009.1_Silent_p.Y21Y|CCDC144A_ENST00000399273.1_Silent_p.Y21Y|RP11-219A15.1_ENST00000448331.3_Silent_p.Y21Y|CCDC144A_ENST00000340621.5_Silent_p.Y21Y|CCDC144A_ENST00000360524.8_Silent_p.Y21Y			A2RUR9	C144A_HUMAN	coiled-coil domain containing 144A	21																	CGGCAGTCTACGCCACGAGGA	0.667													12	24					0	0	1	0	0	T	16593777	C	T	16593777	2	4	169	1	0	0	0	0	0	0	0	1	2795	547	19	1		1	CCDC144A	17	16593777	Silent	SNP	C	TCGA-E1-A7YL-01A-11D-A34A-08	6281040	16593777	64601433	57	23650											
RUNDC3A	10900	broad.mit.edu	37	17	42390486	42390486	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr17:42390486G>A	ENST00000426726.3	+	3	512	c.238G>A	c.(238-240)Ggt>Agt	p.G80S	RUNDC3A_ENST00000225441.7_Missense_Mutation_p.G80S|AC003102.3_ENST00000588097.1_RNA|RUNDC3A_ENST00000590941.1_Splice_Site	NM_001144825.1	NP_001138297.1	Q59EK9	RUN3A_HUMAN	RUN domain containing 3A	80	Interaction with RAP2A (By similarity).|RUN.				small GTPase mediated signal transduction		small GTPase regulator activity			large_intestine(1)|lung(1)|ovary(2)	4		Prostate(33;0.0233)		BRCA - Breast invasive adenocarcinoma(366;0.189)		TGCCCCAGCAGGTCCAGTGAG	0.592													6	31					0	0	1	0	0	A	42390486	G	A	42390486	3	1	169	1	0	0	0	0	1	0	0	0	13796	1014	35	2	248	2	RUNDC3A	17	42390486	Missense_Mutation	SNP	G	TCGA-E1-A7YL-01A-11D-A34A-08	25796709	42390486	38804724	58	23651											
TBX21	30009	broad.mit.edu	37	17	45821893	45821893	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr17:45821893C>T	ENST00000177694.1	+	5	1184	c.973C>T	c.(973-975)Cgg>Tgg	p.R325W		NM_013351.1	NP_037483.1	Q9UL17	TBX21_HUMAN	T-box 21	325					lymphocyte migration|multicellular organismal development|positive regulation of transcription, DNA-dependent|response to virus	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			NS(1)|endometrium(1)|large_intestine(3)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	22						CAAAGGATTCCGGGAGAACTT	0.512													30	64					0	0	1	0	0	T	45821893	C	T	45821893	3	4	169	1	0	0	0	0	1	0	0	0	15717	643	23	1	991	1	TBX21	17	45821893	Missense_Mutation	SNP	C	TCGA-E1-A7YL-01A-11D-A34A-08	3431407	45821893	35373317	59	23652											
SPOP	8405	broad.mit.edu	37	17	47696430	47696430	+	Missense_Mutation	SNP	C	C	G			TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr17:47696430C>G	ENST00000393331.3	-	7	863	c.393G>C	c.(391-393)tgG>tgC	p.W131C	SPOP_ENST00000503676.1_Missense_Mutation_p.W131C|SPOP_ENST00000504102.1_Missense_Mutation_p.W131C|SPOP_ENST00000347630.2_Missense_Mutation_p.W131C|SPOP_ENST00000393328.2_Missense_Mutation_p.W131C	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	O43791	SPOP_HUMAN	speckle-type POZ protein	131	MATH.|Required for nuclear localization.				mRNA processing	nucleus	protein binding			endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						TCTTGAATCCCCAGTCTTTGC	0.453										Prostate(2;0.17)			35	91					0	0	1	0	0	G	47696430	C	G	47696430	3	3	169	1	0	0	0	0	1	0	0	0	15140	624	22	5	755	5	SPOP	17	47696430	Missense_Mutation	SNP	C	TCGA-E1-A7YL-01A-11D-A34A-08	1874537	47696430	33498780	60	23653											
ACE	1636	broad.mit.edu	37	17	61566030	61566030	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr17:61566030C>T	ENST00000577647.1	+	5	650	c.605C>T	c.(604-606)aCg>aTg	p.T202M	ACE_ENST00000490216.2_Missense_Mutation_p.T202M|ACE_ENST00000290863.6_Missense_Mutation_p.T202M|ACE_ENST00000290866.4_Missense_Mutation_p.T776M|ACE_ENST00000428043.1_Missense_Mutation_p.T776M|ACE_ENST00000421982.2_Missense_Mutation_p.T86M|ACE_ENST00000413513.3_Missense_Mutation_p.T202M			P12821	ACE_HUMAN	angiotensin I converting enzyme	776	Peptidase M2 1.				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	GTGATGGCCACGTCCCGGAAA	0.537													34	56					0	0	1	0	0	T	61566030	C	T	61566030	3	4	169	1	0	0	0	0	1	0	0	0	136	536	19	1	2592	1	ACE	17	61566030	Missense_Mutation	SNP	C	TCGA-E1-A7YL-01A-11D-A34A-08	13869600	61566030	19629180	61	23654											
ACTL9	284382	broad.mit.edu	37	19	8808926	8808926	+	Silent	SNP	G	G	A			TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr19:8808926G>A	ENST00000324436.3	-	1	246	c.126C>T	c.(124-126)gcC>gcT	p.A42A		NM_178525.3	NP_848620.3	Q8TC94	ACTL9_HUMAN	actin-like 9	42			A -> D (in a colorectal cancer sample; somatic mutation).			cytoplasm|cytoskeleton				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(15)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	36						GCAGCCTGTCGGCCACCATGC	0.657													29	71					0	0	1	0	0	A	8808926	G	A	8808926	2	1	169	1	0	0	0	0	0	0	0	1	203	1103	39	1		1	ACTL9	19	8808926	Silent	SNP	G	TCGA-E1-A7YL-01A-11D-A34A-08		8808926	50320057	62	23655											
ZNF526	116115	broad.mit.edu	37	19	42730132	42730132	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr19:42730132G>A	ENST00000301215.3	+	3	1802	c.1577G>A	c.(1576-1578)cGt>cAt	p.R526H		NM_133444.1	NP_597701.1	Q8TF50	ZN526_HUMAN	zinc finger protein 526	526					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(3)	22		Prostate(69;0.0704)				ACGGGTGCACGTCCCTACCAA	0.627													14	36					0	0	1	0	0	A	42730132	G	A	42730132	3	1	169	1	0	0	0	0	1	0	0	0	18024	1145	40	1	1579	1	ZNF526	19	42730132	Missense_Mutation	SNP	G	TCGA-E1-A7YL-01A-11D-A34A-08	33921206	42730132	16398851	63	23656											
LENG9	94059	broad.mit.edu	37	19	54974077	54974077	+	Silent	SNP	C	C	A			TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr19:54974077C>A	ENST00000333834.4	-	1	817	c.699G>T	c.(697-699)ctG>ctT	p.L233L		NM_198988.1	NP_945339.2	Q96B70	LENG9_HUMAN	leukocyte receptor cluster (LRC) member 9	233					RNA metabolic process	intracellular	catalytic activity|nucleic acid binding|zinc ion binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)	11	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.134)		GGGCCGCCTCCAGCTCTCCGG	0.682													16	55					2.35188e-11	2.54257e-11	1	1	0	A	54974077	C	A	54974077	2	1	169	1	0	0	0	0	0	0	0	1	8764	581	21	5		5	LENG9	19	54974077	Silent	SNP	C	TCGA-E1-A7YL-01A-11D-A34A-08	12243945	54974077	4154906	64	23657											
NLRP4	147945	broad.mit.edu	37	19	56369885	56369885	+	Missense_Mutation	SNP	G	G	A	rs149428225		TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr19:56369885G>A	ENST00000301295.6	+	3	1548	c.1126G>A	c.(1126-1128)Gtc>Atc	p.V376I	NLRP4_ENST00000346986.5_Missense_Mutation_p.V376I|NLRP4_ENST00000587891.1_Missense_Mutation_p.V301I	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	376	NACHT.						ATP binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		CTCCTCTTTCGTCTTTAACCT	0.577													16	81					0	0	1	0	0	A	56369885	G	A	56369885	3	1	169	1	0	0	0	0	1	0	0	0	10526	1145	40	1	1132	1	NLRP4	19	56369885	Missense_Mutation	SNP	G	TCGA-E1-A7YL-01A-11D-A34A-08	1395808	56369885	2759098	65	23658											
ZSCAN18	65982	broad.mit.edu	37	19	58597628	58597628	+	Missense_Mutation	SNP	G	G	C			TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr19:58597628G>C	ENST00000240727.6	-	6	1150	c.751C>G	c.(751-753)Cag>Gag	p.Q251E	ZSCAN18_ENST00000600404.1_Missense_Mutation_p.Q307E|ZSCAN18_ENST00000601144.1_Missense_Mutation_p.Q251E|ZSCAN18_ENST00000421612.2_Missense_Mutation_p.Q116E	NM_023926.4	NP_076415.3	Q8TBC5	ZSC18_HUMAN	zinc finger and SCAN domain containing 18	251					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|skin(3)	19		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		TGGGAAAGCTGATACCCTGAG	0.562													21	55					0	0	1	0	0	C	58597628	G	C	58597628	3	2	169	1	0	0	0	0	1	0	0	0	18271	1299	45	5	789	5	ZSCAN18	19	58597628	Missense_Mutation	SNP	G	TCGA-E1-A7YL-01A-11D-A34A-08	2227743	58597628	531355	66	23659											
KIF16B	55614	broad.mit.edu	37	20	16485072	16485072	+	Translation_Start_Site	SNP	C	C	T			TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr20:16485072C>T	ENST00000378003.2	-	0	1278				KIF16B_ENST00000355755.3_Missense_Mutation_p.R374H|KIF16B_ENST00000408042.1_Missense_Mutation_p.R374H|KIF16B_ENST00000354981.2_Missense_Mutation_p.R374H			Q96L93	KI16B_HUMAN	kinesin family member 16B						cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						TCGCAGCTCACGGATAAGTTT	0.408													31	211					0	0	1	0	0	T	16485072	C	T	16485072	1	4	169	1	0	0	0	0	0	0	0	0	8320	536	19	1		1	KIF16B	20	16485072	Translation_Start_Site	SNP	C	TCGA-E1-A7YL-01A-11D-A34A-08		16485072	46540448	67	23660											
MMP24	10893	broad.mit.edu	37	20	33855200	33855200	+	Frame_Shift_Del	DEL	G	G	-			TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr20:33855200delG	ENST00000246186.6	+	6	1257	c.1172delG	c.(1171-1173)cggfs	p.R391fs	MMP24-AS1_ENST00000456350.1_RNA|MMP24-AS1_ENST00000566203.2_RNA|MMP24-AS1_ENST00000454184.1_RNA|MMP24-AS1_ENST00000433764.1_RNA|MMP24-AS1_ENST00000438751.1_RNA|MMP24-AS1_ENST00000453892.1_RNA|EDEM2_ENST00000540582.1_Intron	NM_006690.3	NP_006681.1	Q9Y5R2	MMP24_HUMAN	matrix metallopeptidase 24 (membrane-inserted)	391	Hemopexin-like 1.				proteolysis	integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			NS(1)|endometrium(3)|large_intestine(1)|lung(2)|prostate(2)|skin(5)	14			BRCA - Breast invasive adenocarcinoma(18;0.00252)			GCCCTCTTCCGGGGCGAGATG	0.632													2	4	---	---	---	---						-	33855200	G	-	33855200	7	5	169	1	0	1	0	1	0	0	0	0	9710	1116	39	0	944	0	MMP24	20	33855200	Frame_Shift_Del	DEL	G	TCGA-E1-A7YL-01A-11D-A34A-08	17370128	33855200	29170320	68	23661											
MC3R	4159	broad.mit.edu	37	20	54824345	54824345	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr20:54824345C>T	ENST00000243911.2	+	1	558	c.446C>T	c.(445-447)gCg>gTg	p.A149V		NM_019888.3	NP_063941.3	P41968	MC3R_HUMAN	melanocortin 3 receptor	186					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(3)|skin(1)	26			Colorectal(105;0.202)			ATCTTTTACGCGCTCCGCTAC	0.582													43	102					0	0	1	0	0	T	54824345	C	T	54824345	3	4	169	1	0	0	0	0	1	0	0	0	9415	768	27	1	448	1	MC3R	20	54824345	Missense_Mutation	SNP	C	TCGA-E1-A7YL-01A-11D-A34A-08	20969145	54824345	8201175	69	23662											
ITSN1	6453	broad.mit.edu	37	21	35144467	35144467	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr21:35144467G>A	ENST00000381318.3	+	12	1433	c.1145G>A	c.(1144-1146)cGc>cAc	p.R382H	AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000437442.2_Missense_Mutation_p.R382H|ITSN1_ENST00000399355.2_Missense_Mutation_p.R382H|ITSN1_ENST00000381285.4_Missense_Mutation_p.R382H|ITSN1_ENST00000399326.3_Missense_Mutation_p.R382H|ITSN1_ENST00000379960.5_Missense_Mutation_p.R382H|ITSN1_ENST00000381291.4_Missense_Mutation_p.R382H|ITSN1_ENST00000399353.1_Missense_Mutation_p.R345H|ITSN1_ENST00000488166.1_3'UTR|ITSN1_ENST00000399349.1_Missense_Mutation_p.R382H|ITSN1_ENST00000399338.4_Missense_Mutation_p.R382H|ITSN1_ENST00000399352.1_Missense_Mutation_p.R382H|ITSN1_ENST00000399367.3_Missense_Mutation_p.R382H	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	382	KLERQ.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity	p.R382H(1)		breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						GAGCAGGAGCGCCTGGCCCAG	0.572													13	30					0	0	1	0	0	A	35144467	G	A	35144467	3	1	169	1	0	0	0	0	1	0	0	0	7970	1087	38	1	1187	1	ITSN1	21	35144467	Missense_Mutation	SNP	G	TCGA-E1-A7YL-01A-11D-A34A-08		35144467	12985428	70	23663											
MCM3AP	8888	broad.mit.edu	37	21	47660915	47660915	+	Missense_Mutation	SNP	A	A	G			TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr21:47660915A>G	ENST00000397708.1	-	27	5697	c.5443T>C	c.(5443-5445)Ttt>Ctt	p.F1815L	MCM3AP-AS1_ENST00000591223.1_RNA|MCM3AP_ENST00000291688.1_Missense_Mutation_p.F1815L|MCM3AP-AS1_ENST00000414659.1_RNA|MCM3AP_ENST00000467026.1_5'UTR|MCM3AP-AS1_ENST00000421927.1_RNA|MCM3AP-AS1_ENST00000590829.1_RNA|MCM3AP-AS1_ENST00000444998.1_RNA|MCM3AP-AS1_ENST00000455567.1_RNA|MCM3AP-AS1_ENST00000588753.1_RNA|MCM3AP-AS1_ENST00000432735.1_RNA			O60318	MCM3A_HUMAN	minichromosome maintenance complex component 3 associated protein	1815					DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					GAAGGATGAAAAGGCTTTATT	0.403													5	114					0	0	1	0	0	G	47660915	A	G	47660915	3	3	169	1	0	0	0	0	1	0	0	0	9438	14	1	3	511	3	MCM3AP	21	47660915	Missense_Mutation	SNP	A	TCGA-E1-A7YL-01A-11D-A34A-08	12516448	47660915	468980	71	23664											
SERINC2	347735	broad.mit.edu	37	1	31897680	31897680	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YM-01A-11D-A34A-08	TCGA-E1-A7YM-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	195a493a-389b-4701-87a7-9d26cfbc7ac2	8573d87d-205f-4551-9e76-c3208c0950bf	g.chr1:31897680G>A	ENST00000373710.1	+	4	652	c.379G>A	c.(379-381)Gtg>Atg	p.V127M	SERINC2_ENST00000373709.3_Missense_Mutation_p.V118M|SERINC2_ENST00000536859.1_Missense_Mutation_p.V122M|SERINC2_ENST00000536384.1_Missense_Mutation_p.V122M|SERINC2_ENST00000491976.1_3'UTR	NM_001199038.1	NP_001185967.1	Q96SA4	SERC2_HUMAN	serine incorporator 2	118						integral to membrane				cervix(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	12		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0629)|Breast(348;0.0707)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0541)|READ - Rectum adenocarcinoma(331;0.151)		CATGCTCTGCGTGAGCAGCAG	0.652													6	6					0	0	1	0	0	A	31897680	G	A	31897680	3	1	170	1	0	0	0	0	1	0	0	0	14134	1145	40	1	362	1	SERINC2	1	31897680	Missense_Mutation	SNP	G	TCGA-E1-A7YM-01A-11D-A34A-08		31897680	217352941	1	23665											
HRNR	388697	broad.mit.edu	37	1	152187663	152187663	+	Nonsense_Mutation	SNP	G	G	A			TCGA-E1-A7YM-01A-11D-A34A-08	TCGA-E1-A7YM-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	195a493a-389b-4701-87a7-9d26cfbc7ac2	8573d87d-205f-4551-9e76-c3208c0950bf	g.chr1:152187663G>A	ENST00000368801.2	-	3	6517	c.6442C>T	c.(6442-6444)Cga>Tga	p.R2148*	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	2148					keratinization		calcium ion binding|protein binding	p.R2148*(1)		autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GATCCGTGTCGTTCACCCCTA	0.587													30	2110					0	0	1	0	0	A	152187663	G	A	152187663	4	1	170	1	0	0	0	0	0	1	0	0	7400	1153	40	1	2114	1	HRNR	1	152187663	Nonsense_Mutation	SNP	G	TCGA-E1-A7YM-01A-11D-A34A-08	120289983	152187663	97062958	2	23666											
RAD51AP2	729475	broad.mit.edu	37	2	17698258	17698258	+	Silent	SNP	C	C	T			TCGA-E1-A7YM-01A-11D-A34A-08	TCGA-E1-A7YM-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	195a493a-389b-4701-87a7-9d26cfbc7ac2	8573d87d-205f-4551-9e76-c3208c0950bf	g.chr2:17698258C>T	ENST00000399080.2	-	1	1448	c.1425G>A	c.(1423-1425)acG>acA	p.T475T		NM_001099218.2	NP_001092688.1	Q09MP3	R51A2_HUMAN	RAD51 associated protein 2	475										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					GCCAAACAGTCGTTATTAAAG	0.343													14	50					0	0	1	0	0	T	17698258	C	T	17698258	2	4	170	1	0	0	0	0	0	0	0	1	13039	871	31	1		1	RAD51AP2	2	17698258	Silent	SNP	C	TCGA-E1-A7YM-01A-11D-A34A-08		17698258	225501115	3	23667											
VIT	5212	broad.mit.edu	37	2	37041349	37041349	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YM-01A-11D-A34A-08	TCGA-E1-A7YM-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	195a493a-389b-4701-87a7-9d26cfbc7ac2	8573d87d-205f-4551-9e76-c3208c0950bf	g.chr2:37041349G>A	ENST00000379242.3	+	16	2229	c.1927G>A	c.(1927-1929)Gtt>Att	p.V643I	VIT_ENST00000404084.1_Missense_Mutation_p.V580I|VIT_ENST00000389975.3_Missense_Mutation_p.V628I|VIT_ENST00000497382.1_Missense_Mutation_p.V297I|VIT_ENST00000379241.3_Missense_Mutation_p.V606I|VIT_ENST00000401530.1_Missense_Mutation_p.V607I	NM_053276.3	NP_444506.2	Q6UXI7	VITRN_HUMAN	vitrin	628	VWFA 2.					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)				TGCGATAGGCGTTGCCTGGGC	0.512													13	30					0	0	1	0	0	A	37041349	G	A	37041349	3	1	170	1	0	0	0	0	1	0	0	0	17231	1145	40	1	2110	1	VIT	2	37041349	Missense_Mutation	SNP	G	TCGA-E1-A7YM-01A-11D-A34A-08	19343091	37041349	206158024	4	23668											
BMP10	27302	broad.mit.edu	37	2	69093101	69093101	+	Nonsense_Mutation	SNP	G	G	A			TCGA-E1-A7YM-01A-11D-A34A-08	TCGA-E1-A7YM-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	195a493a-389b-4701-87a7-9d26cfbc7ac2	8573d87d-205f-4551-9e76-c3208c0950bf	g.chr2:69093101G>A	ENST00000295379.1	-	2	1095	c.937C>T	c.(937-939)Cga>Tga	p.R313*		NM_014482.1	NP_055297.1	O95393	BMP10_HUMAN	bone morphogenetic protein 10	313					activin receptor signaling pathway|adult heart development|atrial cardiac muscle tissue morphogenesis|BMP signaling pathway|cardiac muscle cell proliferation|heart trabecula formation|negative regulation of cardiac muscle hypertrophy|negative regulation of cell growth|negative regulation of endothelial cell migration|Notch signaling pathway|pathway-restricted SMAD protein phosphorylation|positive regulation of cardiac muscle cell proliferation|positive regulation of cardiac muscle hypertrophy|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent|sarcomere organization|ventricular cardiac muscle cell development|ventricular cardiac muscle tissue morphogenesis	cell surface|extracellular space|Z disc	cytokine activity|growth factor activity|receptor serine/threonine kinase binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(15)|ovary(2)	27						CTTCTGATTCGGGCAGTGGAG	0.527													11	41					0	0	1	0	0	A	69093101	G	A	69093101	4	1	170	1	0	0	0	0	0	1	0	0	1456	1124	39	1	341	1	BMP10	2	69093101	Nonsense_Mutation	SNP	G	TCGA-E1-A7YM-01A-11D-A34A-08	32051752	69093101	174106272	5	23669											
FBXO41	150726	broad.mit.edu	37	2	73490392	73490392	+	Frame_Shift_Del	DEL	C	C	-			TCGA-E1-A7YM-01A-11D-A34A-08	TCGA-E1-A7YM-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	195a493a-389b-4701-87a7-9d26cfbc7ac2	8573d87d-205f-4551-9e76-c3208c0950bf	g.chr2:73490392delC	ENST00000521871.1	-	9	2535	c.2120delG	c.(2119-2121)ggcfs	p.G707fs	FBXO41_ENST00000520530.2_Frame_Shift_Del_p.G707fs|FBXO41_ENST00000295133.5_Frame_Shift_Del_p.G768fs			Q8TF61	FBX41_HUMAN	F-box protein 41	707						intracellular	protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)	13						GCAGCCTGCGCCCAGGGCCCA	0.612													2	4	---	---	---	---						-	73490392	C	-	73490392	7	5	170	1	0	1	0	1	0	0	0	0	5783	739	26	0	527	0	FBXO41	2	73490392	Frame_Shift_Del	DEL	C	TCGA-E1-A7YM-01A-11D-A34A-08	4397291	73490392	169708981	6	23670											
IL1RL1	9173	broad.mit.edu	37	2	102965586	102965586	+	Missense_Mutation	SNP	T	T	C			TCGA-E1-A7YM-01A-11D-A34A-08	TCGA-E1-A7YM-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	195a493a-389b-4701-87a7-9d26cfbc7ac2	8573d87d-205f-4551-9e76-c3208c0950bf	g.chr2:102965586T>C	ENST00000233954.1	+	10	1436	c.1165T>C	c.(1165-1167)Tcc>Ccc	p.S389P		NM_016232.4	NP_057316.3	Q01638	ILRL1_HUMAN	interleukin 1 receptor-like 1	389	TIR.				innate immune response	integral to membrane	interleukin-1 receptor activity|receptor signaling protein activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1)	16						GAACTACAAATCCAGTACAGA	0.388													36	96					0	0	1	0	0	C	102965586	T	C	102965586	3	2	170	1	0	0	0	0	1	0	0	0	7707	1435	50	3	1216	3	IL1RL1	2	102965586	Missense_Mutation	SNP	T	TCGA-E1-A7YM-01A-11D-A34A-08	29475194	102965586	140233787	7	23671											
NDUFS1	4719	broad.mit.edu	37	2	207009618	207009618	+	Silent	SNP	G	G	T			TCGA-E1-A7YM-01A-11D-A34A-08	TCGA-E1-A7YM-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	195a493a-389b-4701-87a7-9d26cfbc7ac2	8573d87d-205f-4551-9e76-c3208c0950bf	g.chr2:207009618G>T	ENST00000233190.6	-	9	1136	c.870C>A	c.(868-870)acC>acA	p.T290T	NDUFS1_ENST00000449699.1_Silent_p.T290T|NDUFS1_ENST00000432169.1_Silent_p.T179T|NDUFS1_ENST00000455934.2_Silent_p.T304T|NDUFS1_ENST00000457011.1_Silent_p.T174T|NDUFS1_ENST00000423725.1_Silent_p.T233T|NDUFS1_ENST00000440274.1_Silent_p.T254T	NM_005006.6	NP_004997.4	P28331	NDUS1_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase)						apoptosis|ATP metabolic process|mitochondrial electron transport, NADH to ubiquinone|reactive oxygen species metabolic process|regulation of mitochondrial membrane potential|transport	mitochondrial intermembrane space|mitochondrial respiratory chain complex I	2 iron, 2 sulfur cluster binding|4 iron, 4 sulfur cluster binding|electron carrier activity|metal ion binding|NADH dehydrogenase (ubiquinone) activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(15)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					NADH(DB00157)	GCATATACCTGGTTTTATCAG	0.299													16	57					1.99824e-07	2.137e-07	1	1	0	T	207009618	G	T	207009618	2	4	170	1	0	0	0	0	0	0	0	1	10338	1335	47	5		5	NDUFS1	2	207009618	Silent	SNP	G	TCGA-E1-A7YM-01A-11D-A34A-08	104044032	207009618	36189755	8	23672											
ALPP	250	broad.mit.edu	37	2	233245422	233245422	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YM-01A-11D-A34A-08	TCGA-E1-A7YM-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	195a493a-389b-4701-87a7-9d26cfbc7ac2	8573d87d-205f-4551-9e76-c3208c0950bf	g.chr2:233245422C>T	ENST00000392027.2	+	8	1224	c.955C>T	c.(955-957)Cgc>Tgc	p.R319C	AC068134.8_ENST00000441266.1_RNA|AC068134.8_ENST00000439072.1_RNA	NM_001632.3	NP_001623.3	P05187	PPB1_HUMAN	alkaline phosphatase, placental	319						anchored to membrane|cell surface|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)		GGCTGCCCTGCGCCTGCTGAG	0.632													14	85					0	0	1	0	0	T	233245422	C	T	233245422	3	4	170	1	0	0	0	0	1	0	0	0	544	768	27	1	985	1	ALPP	2	233245422	Missense_Mutation	SNP	C	TCGA-E1-A7YM-01A-11D-A34A-08	26235804	233245422	9953951	9	23673											
NGEF	25791	broad.mit.edu	37	2	233750036	233750036	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YM-01A-11D-A34A-08	TCGA-E1-A7YM-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	195a493a-389b-4701-87a7-9d26cfbc7ac2	8573d87d-205f-4551-9e76-c3208c0950bf	g.chr2:233750036G>A	ENST00000264051.3	-	10	1669	c.1391C>T	c.(1390-1392)aCg>aTg	p.T464M	NGEF_ENST00000373552.4_Missense_Mutation_p.T372M|NGEF_ENST00000539537.1_Missense_Mutation_p.T187M	NM_019850.2	NP_062824.2	Q8N5V2	NGEF_HUMAN	neuronal guanine nucleotide exchange factor	464					apoptosis|cell differentiation|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|growth cone|plasma membrane	Rho guanyl-nucleotide exchange factor activity			central_nervous_system(4)|endometrium(8)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|skin(4)	35		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604)		CATCTGTTCCGTGCGGCTCAT	0.597													30	88					0	0	1	0	0	A	233750036	G	A	233750036	3	1	170	1	0	0	0	0	1	0	0	0	10441	1145	40	1	765	1	NGEF	2	233750036	Missense_Mutation	SNP	G	TCGA-E1-A7YM-01A-11D-A34A-08	504614	233750036	9449337	10	23674											
UGT1A5	54579	broad.mit.edu	37	2	234621899	234621899	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YM-01A-11D-A34A-08	TCGA-E1-A7YM-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	195a493a-389b-4701-87a7-9d26cfbc7ac2	8573d87d-205f-4551-9e76-c3208c0950bf	g.chr2:234621899G>A	ENST00000373414.3	+	1	262	c.262G>A	c.(262-264)Gaa>Aaa	p.E88K	UGT1A1_ENST00000373450.4_Intron|UGT1A1_ENST00000609637.1_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A1_ENST00000608381.1_Missense_Mutation_p.E88K|UGT1A7_ENST00000373426.3_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A10_ENST00000373445.1_Intron																cervix(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1)	22		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;4.51e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000523)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.00645)		GACCCAGGACGAATTTGATCG	0.428													4	143					0	0	1	0	0	A	234621899	G	A	234621899	3	1	170	1	0	0	0	0	1	0	0	0	17008	1059	37	1	264	1	UGT1A5	2	234621899	Missense_Mutation	SNP	G	TCGA-E1-A7YM-01A-11D-A34A-08	871863	234621899	8577474	11	23675											
RBMS3	27303	broad.mit.edu	37	3	30029663	30029663	+	Silent	SNP	G	G	A			TCGA-E1-A7YM-01A-11D-A34A-08	TCGA-E1-A7YM-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	195a493a-389b-4701-87a7-9d26cfbc7ac2	8573d87d-205f-4551-9e76-c3208c0950bf	g.chr3:30029663G>A	ENST00000434693.2	+	13	1825	c.1125G>A	c.(1123-1125)ggG>ggA	p.G375G	RBMS3_ENST00000456853.1_Silent_p.G373G|RBMS3_ENST00000452462.1_Silent_p.G360G|RBMS3_ENST00000383766.2_Silent_p.G358G|RBMS3_ENST00000473799.1_3'UTR|RBMS3_ENST00000273139.9_Silent_p.G360G|RBMS3_ENST00000383767.2_Silent_p.G376G|RBMS3_ENST00000396583.3_Silent_p.G373G	NM_001003793.2	NP_001003793.1	Q6XE24	RBMS3_HUMAN	RNA binding motif, single stranded interacting protein 3	376						cytoplasm	nucleotide binding|RNA binding			breast(1)|central_nervous_system(1)|large_intestine(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	11		Ovarian(412;0.0956)				CTATGCAAGGGACCTACATTC	0.403													6	27					0	0	1	0	0	A	30029663	G	A	30029663	2	1	170	1	0	0	0	0	0	0	0	1	13202	1161	41	2		2	RBMS3	3	30029663	Silent	SNP	G	TCGA-E1-A7YM-01A-11D-A34A-08		30029663	167992767	12	23676											
SETD2	29072	broad.mit.edu	37	3	47144880	47144880	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YM-01A-11D-A34A-08	TCGA-E1-A7YM-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	195a493a-389b-4701-87a7-9d26cfbc7ac2	8573d87d-205f-4551-9e76-c3208c0950bf	g.chr3:47144880G>A	ENST00000409792.3	-	7	4915	c.4873C>T	c.(4873-4875)Cgt>Tgt	p.R1625C		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	1625	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding	p.R1122C(1)|p.R1625C(1)		breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		TTCATGAAACGAGAGCAATTT	0.348			"N, F, S, Mis"		clear cell renal carcinoma								12	99					0	0	1	0	0	A	47144880	G	A	47144880	3	1	170	1	0	0	0	0	1	0	0	0	14185	1058	37	1	2881	1	SETD2	3	47144880	Missense_Mutation	SNP	G	TCGA-E1-A7YM-01A-11D-A34A-08	17115217	47144880	150877550	13	23677											
CACNA1D	776	broad.mit.edu	37	3	53783386	53783386	+	Missense_Mutation	SNP	A	A	G			TCGA-E1-A7YM-01A-11D-A34A-08	TCGA-E1-A7YM-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	195a493a-389b-4701-87a7-9d26cfbc7ac2	8573d87d-205f-4551-9e76-c3208c0950bf	g.chr3:53783386A>G	ENST00000288139.4	+	28	3584	c.3466A>G	c.(3466-3468)Atc>Gtc	p.I1156V	CACNA1D_ENST00000422281.2_Missense_Mutation_p.I1136V|CACNA1D_ENST00000350061.5_Missense_Mutation_p.I1136V|CACNA1D_ENST00000540742.1_Missense_Mutation_p.I43V	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit		Dihydropyridine binding (By similarity).				axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	CATCATCTACATCATCATTGT	0.428													24	45					0	0	1	0	0	G	53783386	A	G	53783386	3	3	170	1	0	0	0	0	1	0	0	0	2559	217	8	3	3684	3	CACNA1D	3	53783386	Missense_Mutation	SNP	A	TCGA-E1-A7YM-01A-11D-A34A-08	6638506	53783386	144239044	14	23678											
TNK2	10188	broad.mit.edu	37	3	195595228	195595229	+	Frame_Shift_Ins	INS	-	-	G			TCGA-E1-A7YM-01A-11D-A34A-08	TCGA-E1-A7YM-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	195a493a-389b-4701-87a7-9d26cfbc7ac2	8573d87d-205f-4551-9e76-c3208c0950bf	g.chr3:195595228_195595229insG	ENST00000333602.6	-	12	2512_2513	c.1895_1896insC	c.(1894-1896)ccgfs	p.P632fs	TNK2_ENST00000428187.1_Frame_Shift_Ins_p.P664fs|TNK2_ENST00000392400.1_Frame_Shift_Ins_p.P632fs|TNK2_ENST00000381916.2_Frame_Shift_Ins_p.P710fs	NM_005781.4	NP_005772.3	Q07912	ACK1_HUMAN	tyrosine kinase, non-receptor, 2	632	Pro-rich.|Required for interaction with NEDD4 (By similarity).|Required for interaction with SRC.			Missing (in Ref. 4; AAH08884).	positive regulation of peptidyl-tyrosine phosphorylation|protein ubiquitination|small GTPase mediated signal transduction	adherens junction|cytoplasmic vesicle membrane|endosome|nucleus	ATP binding|GTPase inhibitor activity|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	29	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	Adenosine triphosphate(DB00171)	CATAGGCGGGCGGGGGGGGCAG	0.728													10	44	---	---	---	---						G	195595229	-	G	195595228	7	5	170	1	0	1	1	0	0	0	0	0	16378	755	27	0	1236	0	TNK2	3	195595228	Frame_Shift_Ins	INS	-	TCGA-E1-A7YM-01A-11D-A34A-08	141811842	195595228	2427202	15	23679											
ADAMTS3	9508	broad.mit.edu	37	4	73148881	73148881	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YM-01A-11D-A34A-08	TCGA-E1-A7YM-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	195a493a-389b-4701-87a7-9d26cfbc7ac2	8573d87d-205f-4551-9e76-c3208c0950bf	g.chr4:73148881G>A	ENST00000286657.4	-	22	3626	c.3590C>T	c.(3589-3591)cCg>cTg	p.P1197L		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	1197					collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TGATCTTGTCGGACGTCTGTT	0.448													4	141					0	0	1	0	0	A	73148881	G	A	73148881	3	1	170	1	0	0	0	0	1	0	0	0	266	1116	39	1	31	1	ADAMTS3	4	73148881	Missense_Mutation	SNP	G	TCGA-E1-A7YM-01A-11D-A34A-08		73148881	118005395	16	23680											
DMXL1	1657	broad.mit.edu	37	5	118484571	118484571	+	Missense_Mutation	SNP	A	A	G			TCGA-E1-A7YM-01A-11D-A34A-08	TCGA-E1-A7YM-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	195a493a-389b-4701-87a7-9d26cfbc7ac2	8573d87d-205f-4551-9e76-c3208c0950bf	g.chr5:118484571A>G	ENST00000311085.8	+	18	3129	c.3049A>G	c.(3049-3051)Att>Gtt	p.I1017V	DMXL1_ENST00000539542.1_Missense_Mutation_p.I1017V	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	1017										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		GAATGGAAAAATTGATCTTGC	0.388													22	95					0	0	1	0	0	G	118484571	A	G	118484571	3	3	170	1	0	0	0	0	1	0	0	0	4622	101	4	3	3119	3	DMXL1	5	118484571	Missense_Mutation	SNP	A	TCGA-E1-A7YM-01A-11D-A34A-08		118484571	62430689	17	23681											
PCDHA7	56141	broad.mit.edu	37	5	140215668	140215668	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YM-01A-11D-A34A-08	TCGA-E1-A7YM-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	195a493a-389b-4701-87a7-9d26cfbc7ac2	8573d87d-205f-4551-9e76-c3208c0950bf	g.chr5:140215668C>T	ENST00000525929.1	+	1	1700	c.1700C>T	c.(1699-1701)gCg>gTg	p.A567V	PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA7_ENST00000378125.3_Missense_Mutation_p.A567V|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron	NM_018910.2	NP_061733.1														NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCACTGCTGGCGCCTCGGGTG	0.692													38	121					0	0	1	0	0	T	140215668	C	T	140215668	3	4	170	1	0	0	0	0	1	0	0	0	11576	768	27	1	1702	1	PCDHA7	5	140215668	Missense_Mutation	SNP	C	TCGA-E1-A7YM-01A-11D-A34A-08	21731097	140215668	40699592	18	23682											
PCDHA10	56139	broad.mit.edu	37	5	140237073	140237073	+	Silent	SNP	C	C	T			TCGA-E1-A7YM-01A-11D-A34A-08	TCGA-E1-A7YM-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	195a493a-389b-4701-87a7-9d26cfbc7ac2	8573d87d-205f-4551-9e76-c3208c0950bf	g.chr5:140237073C>T	ENST00000307360.5	+	1	1440	c.1440C>T	c.(1438-1440)gaC>gaT	p.D480D	PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Silent_p.D480D|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron	NM_018901.2	NP_061724.1												p.D480D(2)		NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGCGTGGGACGCGGACGCGC	0.657													31	118					0	0	1	0	0	T	140237073	C	T	140237073	2	4	170	1	0	0	0	0	0	0	0	1	11567	535	19	1		1	PCDHA10	5	140237073	Silent	SNP	C	TCGA-E1-A7YM-01A-11D-A34A-08	21405	140237073	40678187	19	23683											
DOCK2	1794	broad.mit.edu	37	5	169484642	169484642	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YM-01A-11D-A34A-08	TCGA-E1-A7YM-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	195a493a-389b-4701-87a7-9d26cfbc7ac2	8573d87d-205f-4551-9e76-c3208c0950bf	g.chr5:169484642G>A	ENST00000256935.8	+	44	4519	c.4439G>A	c.(4438-4440)cGc>cAc	p.R1480H	DOCK2_ENST00000520908.1_Missense_Mutation_p.R972H|DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000540750.1_Missense_Mutation_p.R541H	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1480	DHR-2.				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GGGATCCTGCGCTGGTTTGAG	0.607													11	26					0	0	1	0	0	A	169484642	G	A	169484642	3	1	170	1	0	0	0	0	1	0	0	0	4714	1087	38	1	4613	1	DOCK2	5	169484642	Missense_Mutation	SNP	G	TCGA-E1-A7YM-01A-11D-A34A-08	29247569	169484642	11430618	20	23684											
JARID2	3720	broad.mit.edu	37	6	15501350	15501350	+	Nonsense_Mutation	SNP	G	G	T			TCGA-E1-A7YM-01A-11D-A34A-08	TCGA-E1-A7YM-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	195a493a-389b-4701-87a7-9d26cfbc7ac2	8573d87d-205f-4551-9e76-c3208c0950bf	g.chr6:15501350G>T	ENST00000341776.2	+	8	2402	c.2158G>T	c.(2158-2160)Gag>Tag	p.E720*	JARID2_ENST00000397311.3_Nonsense_Mutation_p.E548*|JARID2_ENST00000541660.1_Nonsense_Mutation_p.E682*	NM_004973.3	NP_004964.2	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2	720					central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent		chromatin binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				CCGGCGGCTGGAGAAGGAGGT	0.642													4	124					0.00024832	0.000251587	1	1	0	T	15501350	G	T	15501350	4	4	170	1	0	0	0	0	0	1	0	0	7989	1175	41	5	2188	5	JARID2	6	15501350	Nonsense_Mutation	SNP	G	TCGA-E1-A7YM-01A-11D-A34A-08		15501350	155613717	21	23685											
BTN2A2	10385	broad.mit.edu	37	6	26393183	26393183	+	Silent	SNP	C	C	T			TCGA-E1-A7YM-01A-11D-A34A-08	TCGA-E1-A7YM-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	195a493a-389b-4701-87a7-9d26cfbc7ac2	8573d87d-205f-4551-9e76-c3208c0950bf	g.chr6:26393183C>T	ENST00000356709.4	+	8	1671	c.1560C>T	c.(1558-1560)caC>caT	p.H520H	BTN2A2_ENST00000352867.2_Silent_p.H404H|BTN2A2_ENST00000469230.1_Intron|BTN2A2_ENST00000432533.2_3'UTR|BTN2A2_ENST00000482536.1_Silent_p.H310H|BTN2A2_ENST00000416795.2_Silent_p.H520H	NM_001197240.1|NM_006995.4	NP_001184169.1|NP_008926.2	Q8WVV5	BT2A2_HUMAN	butyrophilin, subfamily 2, member A2	520					negative regulation of activated T cell proliferation|negative regulation of cellular metabolic process|negative regulation of cytokine secretion	integral to membrane				breast(2)|endometrium(3)|large_intestine(5)|lung(13)	23						TGGGGACCCACCAGAGCCTAT	0.567													12	40					0	0	1	0	0	T	26393183	C	T	26393183	2	4	170	1	0	0	0	0	0	0	0	1	1564	506	18	2		2	BTN2A2	6	26393183	Silent	SNP	C	TCGA-E1-A7YM-01A-11D-A34A-08	10891833	26393183	144721884	22	23686											
SCAND3	114821	broad.mit.edu	37	6	28543532	28543532	+	Missense_Mutation	SNP	C	C	G			TCGA-E1-A7YM-01A-11D-A34A-08	TCGA-E1-A7YM-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	195a493a-389b-4701-87a7-9d26cfbc7ac2	8573d87d-205f-4551-9e76-c3208c0950bf	g.chr6:28543532C>G	ENST00000452236.2	-	3	1567	c.950G>C	c.(949-951)aGc>aCc	p.S317T		NM_052923.1	NP_443155.1	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	317					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						ATGTCCAATGCTGAGATGTGT	0.378													53	170					0	0	1	0	0	G	28543532	C	G	28543532	3	3	170	1	0	0	0	0	1	0	0	0	13929	797	28	4	3035	4	SCAND3	6	28543532	Missense_Mutation	SNP	C	TCGA-E1-A7YM-01A-11D-A34A-08	2150349	28543532	142571535	23	23687											
ZNF311	282890	broad.mit.edu	37	6	28963224	28963224	+	Silent	SNP	T	T	G			TCGA-E1-A7YM-01A-11D-A34A-08	TCGA-E1-A7YM-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	195a493a-389b-4701-87a7-9d26cfbc7ac2	8573d87d-205f-4551-9e76-c3208c0950bf	g.chr6:28963224T>G	ENST00000377179.3	-	7	2067	c.1555A>C	c.(1555-1557)Aga>Cga	p.R519R	ZNF311_ENST00000483450.1_5'UTR	NM_001010877.2	NP_001010877.2	Q5JNZ3	ZN311_HUMAN	zinc finger protein 311	519					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(2)	28						GTGTGGATTCTCTGATGGATG	0.468													9	69					0	0	1	0	0	G	28963224	T	G	28963224	2	3	170	1	0	0	0	0	0	0	0	1	17891	1559	54	5		5	ZNF311	6	28963224	Silent	SNP	T	TCGA-E1-A7YM-01A-11D-A34A-08	419692	28963224	142151843	24	23688											
MICB	4277	broad.mit.edu	37	6	31475003	31475003	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YM-01A-11D-A34A-08	TCGA-E1-A7YM-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	195a493a-389b-4701-87a7-9d26cfbc7ac2	8573d87d-205f-4551-9e76-c3208c0950bf	g.chr6:31475003G>A	ENST00000252229.6	+	4	897	c.818G>A	c.(817-819)cGc>cAc	p.R273H	MICB_ENST00000399150.3_Missense_Mutation_p.R230H|MICB_ENST00000538442.1_Missense_Mutation_p.R241H	NM_005931.3	NP_005922.2	Q29980	MICB_HUMAN	MHC class I polypeptide-related sequence B	273	Ig-like C1-type.				antigen processing and presentation|cytolysis|gamma-delta T cell activation|immune response|immune response-activating cell surface receptor signaling pathway|interspecies interaction between organisms|negative regulation of defense response to virus by host|response to heat|response to oxidative stress|response to retinoic acid	integral to plasma membrane|MHC class I protein complex	natural killer cell lectin-like receptor binding			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)	13						ACCAGGATTCGCCAAGGAGAG	0.607													12	29					0	0	1	0	0	A	31475003	G	A	31475003	3	1	170	1	0	0	0	0	1	0	0	0	9623	1087	38	1	832	1	MICB	6	31475003	Missense_Mutation	SNP	G	TCGA-E1-A7YM-01A-11D-A34A-08	2511779	31475003	139640064	25	23689											
GABRR1	2569	broad.mit.edu	37	6	89888740	89888740	+	Silent	SNP	G	G	A			TCGA-E1-A7YM-01A-11D-A34A-08	TCGA-E1-A7YM-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	195a493a-389b-4701-87a7-9d26cfbc7ac2	8573d87d-205f-4551-9e76-c3208c0950bf	g.chr6:89888740G>A	ENST00000435811.1	-	9	1592	c.1138C>T	c.(1138-1140)Ctg>Ttg	p.L380L	GABRR1_ENST00000454853.2_Silent_p.L397L|GABRR1_ENST00000369451.3_Silent_p.L310L	NM_001256703.1	NP_001243632.1	P24046	GBRR1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 1	397					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(7)|lung(16)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	35		all_cancers(76;9.49e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.46e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)		BRCA - Breast invasive adenocarcinoma(108;0.00917)	Picrotoxin(DB00466)	TTGCCGTCCAGCATCGCAGTG	0.562													13	45					0	0	1	0	0	A	89888740	G	A	89888740	2	1	170	1	0	0	0	0	0	0	0	1	6211	962	34	2		2	GABRR1	6	89888740	Silent	SNP	G	TCGA-E1-A7YM-01A-11D-A34A-08	58413737	89888740	81226327	26	23690											
UBE2J1	51465	broad.mit.edu	37	6	90039674	90039674	+	Silent	SNP	G	G	A			TCGA-E1-A7YM-01A-11D-A34A-08	TCGA-E1-A7YM-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	195a493a-389b-4701-87a7-9d26cfbc7ac2	8573d87d-205f-4551-9e76-c3208c0950bf	g.chr6:90039674G>A	ENST00000435041.2	-	8	959	c.681C>T	c.(679-681)taC>taT	p.Y227Y		NM_016021.2	NP_057105.2	Q9Y385	UB2J1_HUMAN	ubiquitin-conjugating enzyme E2, J1	227						endoplasmic reticulum membrane|integral to membrane	ATP binding|ubiquitin-protein ligase activity			NS(1)|breast(2)|kidney(1)|large_intestine(2)|lung(11)|stomach(1)	18		all_cancers(76;1.65e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;2.5e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0139)		TCTGGAGTCCGTACTAGGAAA	0.428													16	55					0	0	1	0	0	A	90039674	G	A	90039674	2	1	170	1	0	0	0	0	0	0	0	1	16921	1140	40	1		1	UBE2J1	6	90039674	Silent	SNP	G	TCGA-E1-A7YM-01A-11D-A34A-08	150934	90039674	81075393	27	23691											
FAM26D	221301	broad.mit.edu	37	6	116879357	116879357	+	Missense_Mutation	SNP	A	A	G			TCGA-E1-A7YM-01A-11D-A34A-08	TCGA-E1-A7YM-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	195a493a-389b-4701-87a7-9d26cfbc7ac2	8573d87d-205f-4551-9e76-c3208c0950bf	g.chr6:116879357A>G	ENST00000368596.3	+	2	972	c.928A>G	c.(928-930)Att>Gtt	p.I310V	FAM26D_ENST00000368597.2_Missense_Mutation_p.I124V|FAM26D_ENST00000405399.1_Missense_Mutation_p.I167V|FAM26D_ENST00000416171.2_Missense_Mutation_p.I166V			Q5JW98	FA26D_HUMAN	family with sequence similarity 26, member D	310						integral to membrane				endometrium(1)|lung(5)	6		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0258)|all cancers(137;0.0458)|OV - Ovarian serous cystadenocarcinoma(136;0.0694)|Epithelial(106;0.222)		ATCAAGAGGTATTGAATTAAA	0.398													10	70					0	0	1	0	0	G	116879357	A	G	116879357	3	3	170	1	0	0	0	0	1	0	0	0	5585	449	16	3	372	3	FAM26D	6	116879357	Missense_Mutation	SNP	A	TCGA-E1-A7YM-01A-11D-A34A-08	26839683	116879357	54235710	28	23692											
BBS9	27241	broad.mit.edu	37	7	33407399	33407399	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YM-01A-11D-A34A-08	TCGA-E1-A7YM-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	195a493a-389b-4701-87a7-9d26cfbc7ac2	8573d87d-205f-4551-9e76-c3208c0950bf	g.chr7:33407399G>A	ENST00000242067.6	+	17	2235	c.1714G>A	c.(1714-1716)Gat>Aat	p.D572N	BBS9_ENST00000350941.3_Missense_Mutation_p.D532N|BBS9_ENST00000354265.4_Missense_Mutation_p.D537N|BBS9_ENST00000396127.2_Missense_Mutation_p.D537N|BBS9_ENST00000355070.2_Missense_Mutation_p.D567N	NM_198428.2	NP_940820.1	Q3SYG4	PTHB1_HUMAN	Bardet-Biedl syndrome 9	572					fat cell differentiation|response to stimulus|visual perception	BBSome|cilium membrane|microtubule organizing center|nucleus	protein binding		BBS9/PKD1L1(2)	NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	50			GBM - Glioblastoma multiforme(11;0.0894)			TCAGTCAGATGATGATCAGGT	0.373									Bardet-Biedl syndrome				22	124					0	0	1	0	0	A	33407399	G	A	33407399	3	1	170	1	0	0	0	0	1	0	0	0	1340	1290	45	2	1776	2	BBS9	7	33407399	Missense_Mutation	SNP	G	TCGA-E1-A7YM-01A-11D-A34A-08		33407399	125731264	29	23693											
EGFR	1956	broad.mit.edu	37	7	55221822	55221822	+	Missense_Mutation	SNP	C	C	T	rs149840192		TCGA-E1-A7YM-01A-11D-A34A-08	TCGA-E1-A7YM-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	195a493a-389b-4701-87a7-9d26cfbc7ac2	8573d87d-205f-4551-9e76-c3208c0950bf	g.chr7:55221822C>T	ENST00000275493.2	+	7	1043	c.866C>T	c.(865-867)gCc>gTc	p.A289V	EGFR_ENST00000344576.2_Missense_Mutation_p.A289V|EGFR_ENST00000442591.1_Missense_Mutation_p.A289V|EGFR_ENST00000342916.3_Missense_Mutation_p.A289V|EGFR_ENST00000454757.2_Missense_Mutation_p.A236V|EGFR_ENST00000420316.2_Missense_Mutation_p.A289V|EGFR_ENST00000455089.1_Missense_Mutation_p.A244V	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	289					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.A289V(20)|p.A289D(3)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	AGCTTTGGTGCCACCTGCGTG	0.592		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			10	46					0	0	1	0	0	T	55221822	C	T	55221822	3	4	170	1	0	0	0	0	1	0	0	0	4993	739	26	2	892	2	EGFR	7	55221822	Missense_Mutation	SNP	C	TCGA-E1-A7YM-01A-11D-A34A-08	21814423	55221822	103916841	30	23694											
HR	55806	broad.mit.edu	37	8	21978705	21978705	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YM-01A-11D-A34A-08	TCGA-E1-A7YM-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	195a493a-389b-4701-87a7-9d26cfbc7ac2	8573d87d-205f-4551-9e76-c3208c0950bf	g.chr8:21978705C>T	ENST00000381418.4	-	10	3720	c.2240G>A	c.(2239-2241)cGt>cAt	p.R747H	HR_ENST00000312841.8_Missense_Mutation_p.R747H	NM_005144.4	NP_005135.2	O43593	HAIR_HUMAN	hair growth associated	747							DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	27		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		TCGGCCAGCACGGTCCTCTGC	0.632													13	126					0	0	1	0	0	T	21978705	C	T	21978705	3	4	170	1	0	0	0	0	1	0	0	0	7388	536	19	1	1369	1	HR	8	21978705	Missense_Mutation	SNP	C	TCGA-E1-A7YM-01A-11D-A34A-08		21978705	124385317	31	23695											
TEX15	56154	broad.mit.edu	37	8	30704051	30704051	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YM-01A-11D-A34A-08	TCGA-E1-A7YM-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	195a493a-389b-4701-87a7-9d26cfbc7ac2	8573d87d-205f-4551-9e76-c3208c0950bf	g.chr8:30704051C>T	ENST00000256246.2	-	1	2557	c.2483G>A	c.(2482-2484)gGt>gAt	p.G828D		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	828										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		TGCATTTTCACCAAAAGGCTG	0.358													28	77					0	0	1	0	0	T	30704051	C	T	30704051	3	4	170	1	0	0	0	0	1	0	0	0	15838	507	18	2	5902	2	TEX15	8	30704051	Missense_Mutation	SNP	C	TCGA-E1-A7YM-01A-11D-A34A-08	8725346	30704051	115659971	32	23696											
DOCK8	81704	broad.mit.edu	37	9	325674	325674	+	Silent	SNP	C	C	T			TCGA-E1-A7YM-01A-11D-A34A-08	TCGA-E1-A7YM-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	195a493a-389b-4701-87a7-9d26cfbc7ac2	8573d87d-205f-4551-9e76-c3208c0950bf	g.chr9:325674C>T	ENST00000432829.2	+	8	943	c.627C>T	c.(625-627)ttC>ttT	p.F209F	DOCK8_ENST00000469391.1_Silent_p.F209F|DOCK8_ENST00000453981.1_Silent_p.F277F	NM_203447.3	NP_982272.2	Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	277					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		ATGGTAGGTTCGAGATTGAAA	0.358													20	108					0	0	1	0	0	T	325674	C	T	325674	2	4	170	1	0	0	0	0	0	0	0	1	4720	883	31	1		1	DOCK8	9	325674	Silent	SNP	C	TCGA-E1-A7YM-01A-11D-A34A-08		325674	140887757	33	23697											
MORN5	254956	broad.mit.edu	37	9	124929186	124929186	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YM-01A-11D-A34A-08	TCGA-E1-A7YM-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	195a493a-389b-4701-87a7-9d26cfbc7ac2	8573d87d-205f-4551-9e76-c3208c0950bf	g.chr9:124929186G>A	ENST00000536616.1	+	2	225	c.187G>A	c.(187-189)Gcc>Acc	p.A63T	MORN5_ENST00000486801.1_3'UTR|MORN5_ENST00000373764.3_Missense_Mutation_p.A63T			Q5VZ52	MORN5_HUMAN	MORN repeat containing 5	63										endometrium(3)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	9						AAACGGATTGGCCATAAAGGT	0.557													8	16					0	0	1	0	0	A	124929186	G	A	124929186	3	1	170	1	0	0	0	0	1	0	0	0	9760	1203	42	2	193	2	MORN5	9	124929186	Missense_Mutation	SNP	G	TCGA-E1-A7YM-01A-11D-A34A-08	124603512	124929186	16284245	34	23698											
DBH	1621	broad.mit.edu	37	9	136508598	136508598	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YM-01A-11D-A34A-08	TCGA-E1-A7YM-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	195a493a-389b-4701-87a7-9d26cfbc7ac2	8573d87d-205f-4551-9e76-c3208c0950bf	g.chr9:136508598G>A	ENST00000393056.2	+	4	820	c.808G>A	c.(808-810)Gcc>Acc	p.A270T		NM_000787.3	NP_000778.3	P09172	DOPO_HUMAN	dopamine beta-hydroxylase (dopamine beta-monooxygenase)	270					hormone biosynthetic process	chromaffin granule lumen|chromaffin granule membrane|extracellular region|integral to membrane|membrane fraction|soluble fraction|transport vesicle membrane	dopamine beta-monooxygenase activity|L-ascorbic acid binding			central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	36				OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	Dopamine(DB00988)|Vitamin C(DB00126)	CTTCCAGTGCGCCCCCGAGAT	0.662													16	46					0	0	1	0	0	A	136508598	G	A	136508598	3	1	170	1	0	0	0	0	1	0	0	0	4274	1087	38	1	822	1	DBH	9	136508598	Missense_Mutation	SNP	G	TCGA-E1-A7YM-01A-11D-A34A-08	11579412	136508598	4704833	35	23699											
MYOF	26509	broad.mit.edu	37	10	95082849	95082849	+	Silent	SNP	G	G	A			TCGA-E1-A7YM-01A-11D-A34A-08	TCGA-E1-A7YM-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	195a493a-389b-4701-87a7-9d26cfbc7ac2	8573d87d-205f-4551-9e76-c3208c0950bf	g.chr10:95082849G>A	ENST00000371501.4	-	48	5564	c.5442C>T	c.(5440-5442)gaC>gaT	p.D1814D	MYOF_ENST00000358334.5_Silent_p.D1801D|MYOF_ENST00000371502.4_Silent_p.D1804D|MYOF_ENST00000359263.4_Silent_p.D1814D			Q9NZM1	MYOF_HUMAN	myoferlin	1814					blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						TGACGTAGATGTCACTCATTT	0.458													45	124					0	0	1	0	0	A	95082849	G	A	95082849	2	1	170	1	0	0	0	0	0	0	0	1	10137	1368	48	2		2	MYOF	10	95082849	Silent	SNP	G	TCGA-E1-A7YM-01A-11D-A34A-08		95082849	40451898	36	23700											
MUC2	4583	broad.mit.edu	37	11	1081707	1081707	+	Silent	SNP	G	G	A			TCGA-E1-A7YM-01A-11D-A34A-08	TCGA-E1-A7YM-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	195a493a-389b-4701-87a7-9d26cfbc7ac2	8573d87d-205f-4551-9e76-c3208c0950bf	g.chr11:1081707G>A	ENST00000441003.2	+	13	1662	c.1635G>A	c.(1633-1635)ctG>ctA	p.L545L	MUC2_ENST00000359061.5_Silent_p.L545L	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	545	VWFD 2.					inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	CCAGCGGGCTGGTGGAGGCCA	0.632													11	20					0	0	1	0	0	A	1081707	G	A	1081707	2	1	170	1	0	0	0	0	0	0	0	1	10023	1335	47	2		2	MUC2	11	1081707	Silent	SNP	G	TCGA-E1-A7YM-01A-11D-A34A-08		1081707	133924809	37	23701											
OR51E2	81285	broad.mit.edu	37	11	4703777	4703777	+	Silent	SNP	G	G	A			TCGA-E1-A7YM-01A-11D-A34A-08	TCGA-E1-A7YM-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	195a493a-389b-4701-87a7-9d26cfbc7ac2	8573d87d-205f-4551-9e76-c3208c0950bf	g.chr11:4703777G>A	ENST00000396950.3	-	2	404	c.165C>T	c.(163-165)caC>caT	p.H55H		NM_030774.3	NP_110401.1	Q9H255	O51E2_HUMAN	olfactory receptor, family 51, subfamily E, member 2	55					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(3)	23		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;3e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00476)|LUSC - Lung squamous cell carcinoma(625;0.2)		ACATCGGAGCGTGCAGGCTGC	0.517													10	62					0	0	1	0	0	A	4703777	G	A	4703777	2	1	170	1	0	0	0	0	0	0	0	1	11143	1136	40	1		1	OR51E2	11	4703777	Silent	SNP	G	TCGA-E1-A7YM-01A-11D-A34A-08	3622070	4703777	130302739	38	23702											
OR4C12	283093	broad.mit.edu	37	11	50003756	50003756	+	Silent	SNP	C	C	T			TCGA-E1-A7YM-01A-11D-A34A-08	TCGA-E1-A7YM-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	195a493a-389b-4701-87a7-9d26cfbc7ac2	8573d87d-205f-4551-9e76-c3208c0950bf	g.chr11:50003756C>T	ENST00000335238.4	-	1	315	c.282G>A	c.(280-282)ggG>ggA	p.G94G		NM_001005270.2	NP_001005270.2	Q96R67	OR4CC_HUMAN	olfactory receptor, family 4, subfamily C, member 12	94					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|kidney(4)|large_intestine(3)|liver(1)|lung(19)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	36						GAGCCATACACCCATTAAAGG	0.433													15	94					0	0	1	0	0	T	50003756	C	T	50003756	2	4	170	1	0	0	0	0	0	0	0	1	11094	494	18	2		2	OR4C12	11	50003756	Silent	SNP	C	TCGA-E1-A7YM-01A-11D-A34A-08	45299979	50003756	85002760	39	23703											
SERPING1	710	broad.mit.edu	37	11	57373887	57373887	+	Nonsense_Mutation	SNP	G	G	A			TCGA-E1-A7YM-01A-11D-A34A-08	TCGA-E1-A7YM-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	195a493a-389b-4701-87a7-9d26cfbc7ac2	8573d87d-205f-4551-9e76-c3208c0950bf	g.chr11:57373887G>A	ENST00000403558.1	+	5	1391	c.1025G>A	c.(1024-1026)tGg>tAg	p.W342*	SERPING1_ENST00000340687.6_Nonsense_Mutation_p.W299*|SERPING1_ENST00000378324.2_Nonsense_Mutation_p.W247*|SERPING1_ENST00000378323.4_Nonsense_Mutation_p.W304*|SERPING1_ENST00000278407.4_Nonsense_Mutation_p.W299*	NM_001032295.1	NP_001027466.1	P05155	IC1_HUMAN	serpin peptidase inhibitor, clade G (C1 inhibitor), member 1	299					blood circulation|blood coagulation, intrinsic pathway|complement activation, classical pathway|innate immune response|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation	extracellular space|platelet alpha granule lumen	protein binding|serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(1)	27						CTAGCCAAGTGGAAGACAACA	0.443													4	101					0	0	1	0	0	A	57373887	G	A	57373887	4	1	170	1	0	0	0	0	0	1	0	0	14170	1357	47	2	914	2	SERPING1	11	57373887	Nonsense_Mutation	SNP	G	TCGA-E1-A7YM-01A-11D-A34A-08	7370131	57373887	77632629	40	23704											
LAYN	143903	broad.mit.edu	37	11	111431122	111431122	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YM-01A-11D-A34A-08	TCGA-E1-A7YM-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	195a493a-389b-4701-87a7-9d26cfbc7ac2	8573d87d-205f-4551-9e76-c3208c0950bf	g.chr11:111431122C>T	ENST00000436913.2	+	6	1030	c.629C>T	c.(628-630)cCa>cTa	p.P210L	LAYN_ENST00000375615.3_Missense_Mutation_p.P363L|LAYN_ENST00000533265.1_3'UTR|LAYN_ENST00000525126.1_3'UTR|LAYN_ENST00000375614.2_Missense_Mutation_p.P355L	NM_001258391.1	NP_001245320.1	Q6UX15	LAYN_HUMAN	layilin	363						cell surface|integral to membrane|ruffle	hyaluronic acid binding|sugar binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|skin(1)	14		all_cancers(61;9.06e-10)|all_epithelial(67;1.34e-05)|Melanoma(852;1.74e-05)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Breast(348;0.086)		Epithelial(105;1.5e-06)|BRCA - Breast invasive adenocarcinoma(274;1.63e-06)|all cancers(92;2.45e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0476)		GAGTTCTCCCCAGACCAAATG	0.418													13	75					0	0	1	0	0	T	111431122	C	T	111431122	3	4	170	1	0	0	0	0	1	0	0	0	8688	594	21	2	1090	2	LAYN	11	111431122	Missense_Mutation	SNP	C	TCGA-E1-A7YM-01A-11D-A34A-08	54057235	111431122	23575394	41	23705											
KCNA5	3741	broad.mit.edu	37	12	5155075	5155075	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YM-01A-11D-A34A-08	TCGA-E1-A7YM-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	195a493a-389b-4701-87a7-9d26cfbc7ac2	8573d87d-205f-4551-9e76-c3208c0950bf	g.chr12:5155075G>A	ENST00000252321.3	+	1	1991	c.1762G>A	c.(1762-1764)Gtc>Atc	p.V588I		NM_002234.3	NP_002225.2	P22460	KCNA5_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 5	588						Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2)	52						GAAGTGTAACGTCAAGGCCAA	0.592													10	22					0	0	1	0	0	A	5155075	G	A	5155075	3	1	170	1	0	0	0	0	1	0	0	0	8050	1145	40	1	1764	1	KCNA5	12	5155075	Missense_Mutation	SNP	G	TCGA-E1-A7YM-01A-11D-A34A-08		5155075	128696820	42	23706											
GPR133	283383	broad.mit.edu	37	12	131466566	131466566	+	Missense_Mutation	SNP	C	C	T	rs144030317		TCGA-E1-A7YM-01A-11D-A34A-08	TCGA-E1-A7YM-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	195a493a-389b-4701-87a7-9d26cfbc7ac2	8573d87d-205f-4551-9e76-c3208c0950bf	g.chr12:131466566C>T	ENST00000261654.5	+	5	1007	c.448C>T	c.(448-450)Cgg>Tgg	p.R150W	GPR133_ENST00000535015.1_Missense_Mutation_p.R182W	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	150					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.R150W(1)		NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		GCTGTATACGCGGGACAATTC	0.587													17	57					0	0	1	0	0	T	131466566	C	T	131466566	3	4	170	1	0	0	0	0	1	0	0	0	6683	759	27	1	466	1	GPR133	12	131466566	Missense_Mutation	SNP	C	TCGA-E1-A7YM-01A-11D-A34A-08	126311491	131466566	2385329	43	23707											
KL	9365	broad.mit.edu	37	13	33638052	33638052	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YM-01A-11D-A34A-08	TCGA-E1-A7YM-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	195a493a-389b-4701-87a7-9d26cfbc7ac2	8573d87d-205f-4551-9e76-c3208c0950bf	g.chr13:33638052C>T	ENST00000380099.3	+	5	2776	c.2768C>T	c.(2767-2769)cCg>cTg	p.P923L	KL_ENST00000487852.1_3'UTR	NM_004795.3	NP_004786.2	Q9UEF7	KLOT_HUMAN	klotho	923	Glycosyl hydrolase-1 2.				aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		CGCACAGCTCCGAGGTTTGGC	0.443													44	136					0	0	1	0	0	T	33638052	C	T	33638052	3	4	170	1	0	0	0	0	1	0	0	0	8374	652	23	1	2786	1	KL	13	33638052	Missense_Mutation	SNP	C	TCGA-E1-A7YM-01A-11D-A34A-08		33638052	81531826	44	23708											
RB1	5925	broad.mit.edu	37	13	48941638	48941641	+	Frame_Shift_Del	DEL	TCTT	TCTT	-			TCGA-E1-A7YM-01A-11D-A34A-08	TCGA-E1-A7YM-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	195a493a-389b-4701-87a7-9d26cfbc7ac2	8573d87d-205f-4551-9e76-c3208c0950bf	g.chr13:48941638_48941641delTCTT	ENST00000267163.4	+	10	1086_1089	c.948_951delTCTT	c.(946-951)aatcttfs	p.NL316fs		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	316					androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.0?(15)|p.?(7)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	AGGTTGAAAATCTTTCTAAACGAT	0.299		6	"D, Mis, N, F, S"		"retinoblastoma, sarcoma, breast, small cell lung"	"retinoblastoma, sarcoma, breast, small cell lung"			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			12	76	---	---	---	---						-	48941641	TCTT	-	48941638	7	5	170	1	0	1	0	1	0	0	0	0	13150	1432	50	0	986	0	RB1	13	48941638	Frame_Shift_Del	DEL	TCTT	TCGA-E1-A7YM-01A-11D-A34A-08	15303586	48941638	66228240	45	23709											
ABCC4	10257	broad.mit.edu	37	13	95858796	95858796	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YM-01A-11D-A34A-08	TCGA-E1-A7YM-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	195a493a-389b-4701-87a7-9d26cfbc7ac2	8573d87d-205f-4551-9e76-c3208c0950bf	g.chr13:95858796C>T	ENST00000376887.4	-	8	1265	c.1151G>A	c.(1150-1152)cGa>cAa	p.R384Q	ABCC4_ENST00000431522.1_Missense_Mutation_p.R384Q|ABCC4_ENST00000538287.1_3'UTR|ABCC4_ENST00000412704.1_Missense_Mutation_p.R384Q|ABCC4_ENST00000536256.1_Missense_Mutation_p.R309Q	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 4	384					platelet activation|platelet degranulation	integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity	p.R384Q(2)		breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Cefazolin(DB01327)	CTGGATTCTTCGGATGCTGAC	0.478													19	50					0	0	1	0	0	T	95858796	C	T	95858796	3	4	170	1	0	0	0	0	1	0	0	0	55	884	31	1	2971	1	ABCC4	13	95858796	Missense_Mutation	SNP	C	TCGA-E1-A7YM-01A-11D-A34A-08	46917158	95858796	19311082	46	23710											
ATP11A	23250	broad.mit.edu	37	13	113481174	113481174	+	Missense_Mutation	SNP	A	A	G			TCGA-E1-A7YM-01A-11D-A34A-08	TCGA-E1-A7YM-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	195a493a-389b-4701-87a7-9d26cfbc7ac2	8573d87d-205f-4551-9e76-c3208c0950bf	g.chr13:113481174A>G	ENST00000487903.1	+	12	1278	c.1190A>G	c.(1189-1191)aAc>aGc	p.N397S	ATP11A_ENST00000375630.2_Missense_Mutation_p.N397S|ATP11A_ENST00000283558.8_Missense_Mutation_p.N397S|ATP11A_ENST00000375645.3_Missense_Mutation_p.N397S			P98196	AT11A_HUMAN	ATPase, class VI, type 11A	397					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)				CCTCTGGTGAACACGTCGGAC	0.527													13	42					0	0	1	0	0	G	113481174	A	G	113481174	3	3	170	1	0	0	0	0	1	0	0	0	1118	43	2	3	1236	3	ATP11A	13	113481174	Missense_Mutation	SNP	A	TCGA-E1-A7YM-01A-11D-A34A-08	17622378	113481174	1688704	47	23711											
LIN52	91750	broad.mit.edu	37	14	74665655	74665655	+	Missense_Mutation	SNP	A	A	G			TCGA-E1-A7YM-01A-11D-A34A-08	TCGA-E1-A7YM-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	195a493a-389b-4701-87a7-9d26cfbc7ac2	8573d87d-205f-4551-9e76-c3208c0950bf	g.chr14:74665655A>G	ENST00000555028.1	+	6	493	c.326A>G	c.(325-327)aAt>aGt	p.N109S		NM_001024674.2	NP_001019845.1	Q52LA3	LIN52_HUMAN	lin-52 homolog (C. elegans)	109										breast(1)|endometrium(2)|lung(2)	5				BRCA - Breast invasive adenocarcinoma(234;0.00471)		AAATTCCTCAATATTCTAGAG	0.458													16	22					0	0	1	0	0	G	74665655	A	G	74665655	3	3	170	1	0	0	0	0	1	0	0	0	8849	101	4	3	348	3	LIN52	14	74665655	Missense_Mutation	SNP	A	TCGA-E1-A7YM-01A-11D-A34A-08		74665655	32683885	48	23712											
TMOD2	29767	broad.mit.edu	37	15	52074950	52074950	+	Silent	SNP	A	A	G			TCGA-E1-A7YM-01A-11D-A34A-08	TCGA-E1-A7YM-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	195a493a-389b-4701-87a7-9d26cfbc7ac2	8573d87d-205f-4551-9e76-c3208c0950bf	g.chr15:52074950A>G	ENST00000249700.4	+	7	878	c.657A>G	c.(655-657)gcA>gcG	p.A219A	TMOD2_ENST00000539962.2_Silent_p.A175A|TMOD2_ENST00000435126.2_Intron	NM_001142885.1|NM_014548.3	NP_001136357.1|NP_055363.1	Q9NZR1	TMOD2_HUMAN	tropomodulin 2 (neuronal)	219					nervous system development	cytoplasm|cytoskeleton	actin binding|tropomyosin binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	16				all cancers(107;0.00435)		GGGAATTTGCAAAGGCTCTGG	0.463													33	103					0	0	1	0	0	G	52074950	A	G	52074950	2	3	170	1	0	0	0	0	0	0	0	1	16294	117	5	3		3	TMOD2	15	52074950	Silent	SNP	A	TCGA-E1-A7YM-01A-11D-A34A-08		52074950	50456442	49	23713											
MYO9A	4649	broad.mit.edu	37	15	72338854	72338854	+	Silent	SNP	T	T	C			TCGA-E1-A7YM-01A-11D-A34A-08	TCGA-E1-A7YM-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	195a493a-389b-4701-87a7-9d26cfbc7ac2	8573d87d-205f-4551-9e76-c3208c0950bf	g.chr15:72338854T>C	ENST00000356056.5	-	2	523	c.51A>G	c.(49-51)acA>acG	p.T17T	MYO9A_ENST00000564571.1_Silent_p.T17T|MYO9A_ENST00000444904.1_Silent_p.T17T|MYO9A_ENST00000566885.1_Intron|MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000424560.1_Silent_p.T17T	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	17	Ras-associating.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						ATATCCGTAATGTATGTTCAT	0.408													20	129					0	0	1	0	0	C	72338854	T	C	72338854	2	2	170	1	0	0	0	0	0	0	0	1	10132	1451	51	3		3	MYO9A	15	72338854	Silent	SNP	T	TCGA-E1-A7YM-01A-11D-A34A-08	20263904	72338854	30192538	50	23714											
WDR90	197335	broad.mit.edu	37	16	705313	705313	+	Silent	SNP	G	G	A			TCGA-E1-A7YM-01A-11D-A34A-08	TCGA-E1-A7YM-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	195a493a-389b-4701-87a7-9d26cfbc7ac2	8573d87d-205f-4551-9e76-c3208c0950bf	g.chr16:705313G>A	ENST00000549091.1	+	15	1655	c.1563G>A	c.(1561-1563)gcG>gcA	p.A521A	LA16c-349E10.1_ENST00000573609.1_RNA|WDR90_ENST00000293879.4_Silent_p.A521A	NM_145294.4	NP_660337.3	Q96KV7	WDR90_HUMAN	WD repeat domain 90	521										endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				GCAGGATGGCGTCGTGCGGGC	0.697													9	26					0	0	1	0	0	A	705313	G	A	705313	2	1	170	1	0	0	0	0	0	0	0	1	17397	1132	40	1		1	WDR90	16	705313	Silent	SNP	G	TCGA-E1-A7YM-01A-11D-A34A-08		705313	89649440	51	23715											
SMG1	23049	broad.mit.edu	37	16	18863422	18863424	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-E1-A7YM-01A-11D-A34A-08	TCGA-E1-A7YM-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	195a493a-389b-4701-87a7-9d26cfbc7ac2	8573d87d-205f-4551-9e76-c3208c0950bf	g.chr16:18863422_18863424delAAG	ENST00000446231.2	-	33	5429_5431	c.5017_5019delCTT	c.(5017-5019)cttdel	p.L1673del	SMG1_ENST00000389467.3_In_Frame_Del_p.L1673del			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	1673	FAT.|Interaction with SMG8 and SMG9.				DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						CAGCCTGTCCAAGAATACCATAT	0.443													18	47	---	---	---	---						-	18863424	AAG	-	18863422	7	5	170	1	0	1	0	1	0	0	0	0	14849	117	5	0	6090	0	SMG1	16	18863422	In_Frame_Del	DEL	AAG	TCGA-E1-A7YM-01A-11D-A34A-08	18158109	18863422	71491331	52	23716											
OR3A3	8392	broad.mit.edu	37	17	3324353	3324353	+	Silent	SNP	C	C	T			TCGA-E1-A7YM-01A-11D-A34A-08	TCGA-E1-A7YM-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	195a493a-389b-4701-87a7-9d26cfbc7ac2	8573d87d-205f-4551-9e76-c3208c0950bf	g.chr17:3324353C>T	ENST00000291231.1	+	1	492	c.492C>T	c.(490-492)aaC>aaT	p.N164N		NM_012373.2	NP_036505.2	P47888	OR3A3_HUMAN	olfactory receptor, family 3, subfamily A, member 3	164					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(1)	9						CCTTCACCAACGCACTGACCC	0.587													13	132					0	0	1	0	0	T	3324353	C	T	3324353	2	4	170	1	0	0	0	0	0	0	0	1	11087	535	19	1		1	OR3A3	17	3324353	Silent	SNP	C	TCGA-E1-A7YM-01A-11D-A34A-08		3324353	77870857	53	23717											
DNAH9	1770	broad.mit.edu	37	17	11840726	11840726	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YM-01A-11D-A34A-08	TCGA-E1-A7YM-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	195a493a-389b-4701-87a7-9d26cfbc7ac2	8573d87d-205f-4551-9e76-c3208c0950bf	g.chr17:11840726G>A	ENST00000262442.4	+	66	12615	c.12547G>A	c.(12547-12549)Gca>Aca	p.A4183T	DNAH9_ENST00000396001.2_3'UTR|DNAH9_ENST00000454412.2_Missense_Mutation_p.A4107T|DNAH9_ENST00000608377.1_Missense_Mutation_p.A495T	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9						cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CCACCCGAACGCAGAGATTGG	0.577													19	67					0	0	1	0	0	A	11840726	G	A	11840726	3	1	170	1	0	0	0	0	1	0	0	0	4635	1087	38	1	12809	1	DNAH9	17	11840726	Missense_Mutation	SNP	G	TCGA-E1-A7YM-01A-11D-A34A-08	8516373	11840726	69354484	54	23718											
IGF2BP1	10642	broad.mit.edu	37	17	47119680	47119680	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YM-01A-11D-A34A-08	TCGA-E1-A7YM-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	195a493a-389b-4701-87a7-9d26cfbc7ac2	8573d87d-205f-4551-9e76-c3208c0950bf	g.chr17:47119680G>A	ENST00000290341.3	+	9	1352	c.1018G>A	c.(1018-1020)Gag>Aag	p.E340K	IGF2BP1_ENST00000431824.2_Missense_Mutation_p.E201K	NM_006546.3	NP_006537.3	Q9NZI8	IF2B1_HUMAN	insulin-like growth factor 2 mRNA binding protein 1	340	KH 2.|Necessary for interaction with ELAVL4 and binding to TAU mRNA (By similarity).				CRD-mediated mRNA stabilization|negative regulation of translation|regulation of mRNA stability involved in response to stress	CRD-mediated mRNA stability complex|cytosol|dendritic spine|lamellipodium|nucleus|plasma membrane|stress granule	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						TTGCAGGGCCGAGCAGGAAAT	0.512													20	69					0	0	1	0	0	A	47119680	G	A	47119680	3	1	170	1	0	0	0	0	1	0	0	0	7617	1059	37	1	1052	1	IGF2BP1	17	47119680	Missense_Mutation	SNP	G	TCGA-E1-A7YM-01A-11D-A34A-08	35278954	47119680	34075530	55	23719											
AFMID	125061	broad.mit.edu	37	17	76198801	76198801	+	Frame_Shift_Del	DEL	T	T	-			TCGA-E1-A7YM-01A-11D-A34A-08	TCGA-E1-A7YM-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	195a493a-389b-4701-87a7-9d26cfbc7ac2	8573d87d-205f-4551-9e76-c3208c0950bf	g.chr17:76198801delT	ENST00000409257.5	+	4	331	c.277delT	c.(277-279)ttcfs	p.F94fs	AFMID_ENST00000589664.1_3'UTR|AFMID_ENST00000588800.1_Frame_Shift_Del_p.F59fs|AFMID_ENST00000591952.1_Intron|AFMID_ENST00000327898.5_Frame_Shift_Del_p.F94fs	NM_001010982.4|NM_001145526.2	NP_001010982.2|NP_001138998.1	Q63HM1	AFMID_HUMAN	arylformamidase	94						cytosol|nucleus	arylformamidase activity			autonomic_ganglia(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|skin(1)	19			BRCA - Breast invasive adenocarcinoma(99;0.00269)|OV - Ovarian serous cystadenocarcinoma(97;0.134)			TTTCTTCCTGTTCTTTCACGG	0.617													2	4	---	---	---	---						-	76198801	T	-	76198801	7	5	170	1	0	1	0	1	0	0	0	0	361	1725	60	0	291	0	AFMID	17	76198801	Frame_Shift_Del	DEL	T	TCGA-E1-A7YM-01A-11D-A34A-08	29079121	76198801	4996409	56	23720											
MAG	4099	broad.mit.edu	37	19	35791251	35791251	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YM-01A-11D-A34A-08	TCGA-E1-A7YM-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	195a493a-389b-4701-87a7-9d26cfbc7ac2	8573d87d-205f-4551-9e76-c3208c0950bf	g.chr19:35791251G>A	ENST00000361922.4	+	6	1064	c.914G>A	c.(913-915)tGc>tAc	p.C305Y	MAG_ENST00000392213.3_Missense_Mutation_p.C305Y|MAG_ENST00000537831.2_Missense_Mutation_p.C280Y	NM_080600.2	NP_542167.1	P20916	MAG_HUMAN	myelin associated glycoprotein	305	Ig-like C2-type 2.				blood coagulation|cell adhesion|leukocyte migration|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane	sugar binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(11)|skin(2)|upper_aerodigestive_tract(2)	34	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			GTCTATGCCTGCCTGGCCGAG	0.677													11	23					0	0	1	0	0	A	35791251	G	A	35791251	3	1	170	1	0	0	0	0	1	0	0	0	9208	1319	46	2	928	2	MAG	19	35791251	Missense_Mutation	SNP	G	TCGA-E1-A7YM-01A-11D-A34A-08		35791251	23337732	57	23721											
FCGBP	8857	broad.mit.edu	37	19	40408807	40408807	+	Silent	SNP	G	G	A			TCGA-E1-A7YM-01A-11D-A34A-08	TCGA-E1-A7YM-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	195a493a-389b-4701-87a7-9d26cfbc7ac2	8573d87d-205f-4551-9e76-c3208c0950bf	g.chr19:40408807G>A	ENST00000221347.6	-	8	4039	c.4032C>T	c.(4030-4032)aaC>aaT	p.N1344N		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	1344	VWFD 3.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GGATCTGGCCGTTGGCCAGCA	0.587													13	30					0	0	1	0	0	A	40408807	G	A	40408807	2	1	170	1	0	0	0	0	0	0	0	1	5811	1136	40	1		1	FCGBP	19	40408807	Silent	SNP	G	TCGA-E1-A7YM-01A-11D-A34A-08	4617556	40408807	18720176	58	23722											
FGF16	8823	broad.mit.edu	37	X	76711876	76711876	+	Silent	SNP	G	G	A			TCGA-E1-A7YM-01A-11D-A34A-08	TCGA-E1-A7YM-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	195a493a-389b-4701-87a7-9d26cfbc7ac2	8573d87d-205f-4551-9e76-c3208c0950bf	g.chrX:76711876G>A	ENST00000439435.1	+	2	213	c.213G>A	c.(211-213)acG>acA	p.T71T				O43320	FGF16_HUMAN	fibroblast growth factor 16	0					cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|metabolic process|organ morphogenesis|response to temperature stimulus	extracellular space	growth factor activity			NS(1)|breast(1)|lung(2)	4						ACAGTATTACGTGGCCCTGAA	0.463													20	19					0	0	1	0	0	A	76711876	G	A	76711876	2	1	170	1	0	0	0	0	0	0	0	1	5877	1145	40	1		1	FGF16	23	76711876	Silent	SNP	G	TCGA-E1-A7YM-01A-11D-A34A-08		76711876	78558684	59	23723											
TMEM52	339456	broad.mit.edu	37	1	1849422	1849422	+	Missense_Mutation	SNP	G	G	C			TCGA-E1-A7YN-01A-11D-A34A-08	TCGA-E1-A7YN-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb1831c-3b62-45ce-8750-31fa7f3ebe7f	7a87f52e-8414-45c7-befa-a0acc48b6fbc	g.chr1:1849422G>C	ENST00000378602.3	-	2	724	c.484C>G	c.(484-486)Ccc>Gcc	p.P162A	TMEM52_ENST00000310991.3_Missense_Mutation_p.P177A			Q8NDY8	TMM52_HUMAN	transmembrane protein 52	177						integral to membrane				NS(1)|prostate(1)|stomach(1)	3	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.82e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.75e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		AGAGGGCTGGGTTTCTGGGAG	0.622													11	136					0	0	1	0	0	C	1849422	G	C	1849422	3	2	171	1	0	0	0	0	1	0	0	0	16238	1261	44	5	104	5	TMEM52	1	1849422	Missense_Mutation	SNP	G	TCGA-E1-A7YN-01A-11D-A34A-08		1849422	247401199	1	23724											
TMEM201	199953	broad.mit.edu	37	1	9661231	9661231	+	Nonsense_Mutation	SNP	C	C	A			TCGA-E1-A7YN-01A-11D-A34A-08	TCGA-E1-A7YN-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb1831c-3b62-45ce-8750-31fa7f3ebe7f	7a87f52e-8414-45c7-befa-a0acc48b6fbc	g.chr1:9661231C>A	ENST00000340305.5	+	5	684	c.675C>A	c.(673-675)tgC>tgA	p.C225*	TMEM201_ENST00000377376.4_Nonsense_Mutation_p.C225*|TMEM201_ENST00000340381.6_Nonsense_Mutation_p.C225*	NM_001010866.3	NP_001010866.1	Q5SNT2	TM201_HUMAN	transmembrane protein 201	225						integral to membrane|nuclear inner membrane				lung(3)|upper_aerodigestive_tract(1)	4	all_lung(157;0.222)	all_epithelial(116;2.09e-14)|Renal(390;0.000469)|all_lung(118;0.000521)|Lung NSC(185;0.000744)|Colorectal(325;0.0062)|Breast(348;0.0157)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.5e-08)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|STAD - Stomach adenocarcinoma(132;0.00345)|READ - Rectum adenocarcinoma(331;0.0419)		TCCTGGCCTGCGCCTTCCTAC	0.657													4	96					0.014758	0.014758	1	1	0	A	9661231	C	A	9661231	4	1	171	1	0	0	0	0	0	1	0	0	16186	776	27	5	693	5	TMEM201	1	9661231	Nonsense_Mutation	SNP	C	TCGA-E1-A7YN-01A-11D-A34A-08	7811809	9661231	239589390	2	23725											
RPTN	126638	broad.mit.edu	37	1	152128196	152128196	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YN-01A-11D-A34A-08	TCGA-E1-A7YN-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb1831c-3b62-45ce-8750-31fa7f3ebe7f	7a87f52e-8414-45c7-befa-a0acc48b6fbc	g.chr1:152128196C>T	ENST00000316073.3	-	3	1443	c.1379G>A	c.(1378-1380)aGt>aAt	p.S460N		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	460	Gln-rich.					proteinaceous extracellular matrix	calcium ion binding			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						ATAGTGGGAACTCTGGCCTTG	0.512													10	806					0	0	1	0	0	T	152128196	C	T	152128196	3	4	171	1	0	0	0	0	1	0	0	0	13716	565	20	2	979	2	RPTN	1	152128196	Missense_Mutation	SNP	C	TCGA-E1-A7YN-01A-11D-A34A-08	142466965	152128196	97122425	3	23726											
SPTA1	6708	broad.mit.edu	37	1	158622273	158622273	+	Missense_Mutation	SNP	A	A	T			TCGA-E1-A7YN-01A-11D-A34A-08	TCGA-E1-A7YN-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb1831c-3b62-45ce-8750-31fa7f3ebe7f	7a87f52e-8414-45c7-befa-a0acc48b6fbc	g.chr1:158622273A>T	ENST00000368147.4	-	23	3539	c.3359T>A	c.(3358-3360)tTt>tAt	p.F1120Y		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)						actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GAACTCATCAAACTTTTTCTG	0.398													15	112					0	0	1	0	0	T	158622273	A	T	158622273	3	4	171	1	0	0	0	0	1	0	0	0	15172	14	1	5	4020	5	SPTA1	1	158622273	Missense_Mutation	SNP	A	TCGA-E1-A7YN-01A-11D-A34A-08	6494077	158622273	90628348	4	23727											
MNDA	4332	broad.mit.edu	37	1	158815468	158815468	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YN-01A-11D-A34A-08	TCGA-E1-A7YN-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb1831c-3b62-45ce-8750-31fa7f3ebe7f	7a87f52e-8414-45c7-befa-a0acc48b6fbc	g.chr1:158815468C>T	ENST00000368141.4	+	5	923	c.662C>T	c.(661-663)gCg>gTg	p.A221V		NM_002432.1	NP_002423.1	P41218	MNDA_HUMAN	myeloid cell nuclear differentiation antigen	221	HIN-200.				B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(26)|ovary(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	all_hematologic(112;0.0378)					AAAGCAACAGCGCCATTTAAA	0.468													8	44					0	0	1	0	0	T	158815468	C	T	158815468	3	4	171	1	0	0	0	0	1	0	0	0	9725	768	27	1	676	1	MNDA	1	158815468	Missense_Mutation	SNP	C	TCGA-E1-A7YN-01A-11D-A34A-08	193195	158815468	90435153	5	23728											
PIK3C2B	5287	broad.mit.edu	37	1	204438640	204438640	+	Silent	SNP	G	G	A			TCGA-E1-A7YN-01A-11D-A34A-08	TCGA-E1-A7YN-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb1831c-3b62-45ce-8750-31fa7f3ebe7f	7a87f52e-8414-45c7-befa-a0acc48b6fbc	g.chr1:204438640G>A	ENST00000367187.3	-	3	847	c.291C>T	c.(289-291)tcC>tcT	p.S97S	PIK3C2B_ENST00000424712.2_Silent_p.S97S	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	97	Interaction with GRB2.				cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			CTTCCTGTGGGGAGAGTGAGT	0.572													13	390					0	0	1	0	0	A	204438640	G	A	204438640	2	1	171	1	0	0	0	0	0	0	0	1	11958	1219	43	2		2	PIK3C2B	1	204438640	Silent	SNP	G	TCGA-E1-A7YN-01A-11D-A34A-08	45623172	204438640	44811981	6	23729			1	19		3	3	178	G		1.146478e-07
PIK3C2B	5287	broad.mit.edu	37	1	204438785	204438785	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YN-01A-11D-A34A-08	TCGA-E1-A7YN-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb1831c-3b62-45ce-8750-31fa7f3ebe7f	7a87f52e-8414-45c7-befa-a0acc48b6fbc	g.chr1:204438785G>A	ENST00000367187.3	-	3	702	c.146C>T	c.(145-147)gCc>gTc	p.A49V	PIK3C2B_ENST00000424712.2_Missense_Mutation_p.A49V	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	49	Interaction with GRB2.				cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			GTTCTGCTTGGCTCTGTTCTC	0.592													17	474					0	0	1	0	0	A	204438785	G	A	204438785	3	1	171	1	0	0	0	0	1	0	0	0	11958	1203	42	2	4886	2	PIK3C2B	1	204438785	Missense_Mutation	SNP	G	TCGA-E1-A7YN-01A-11D-A34A-08	145	204438785	44811836	7	23730			1	19		3	3	178	G		1.146478e-07
PIK3C2B	5287	broad.mit.edu	37	1	204438817	204438817	+	Silent	SNP	G	G	A			TCGA-E1-A7YN-01A-11D-A34A-08	TCGA-E1-A7YN-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb1831c-3b62-45ce-8750-31fa7f3ebe7f	7a87f52e-8414-45c7-befa-a0acc48b6fbc	g.chr1:204438817G>A	ENST00000367187.3	-	3	670	c.114C>T	c.(112-114)tcC>tcT	p.S38S	PIK3C2B_ENST00000424712.2_Silent_p.S38S	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	38	Interaction with GRB2.				cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			GCCGGAGCCGGGACAGGGCAT	0.587													13	469					0	0	1	0	0	A	204438817	G	A	204438817	2	1	171	1	0	0	0	0	0	0	0	1	11958	1219	43	2		2	PIK3C2B	1	204438817	Silent	SNP	G	TCGA-E1-A7YN-01A-11D-A34A-08	32	204438817	44811804	8	23731			1	19		3	3	178	G		1.146478e-07
OR2L3	391192	broad.mit.edu	37	1	248224375	248224375	+	Missense_Mutation	SNP	A	A	T			TCGA-E1-A7YN-01A-11D-A34A-08	TCGA-E1-A7YN-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb1831c-3b62-45ce-8750-31fa7f3ebe7f	7a87f52e-8414-45c7-befa-a0acc48b6fbc	g.chr1:248224375A>T	ENST00000359959.3	+	1	392	c.392A>T	c.(391-393)tAt>tTt	p.Y131F	OR2L13_ENST00000366478.2_Intron	NM_001004687.1	NP_001004687.1	Q8NG85	OR2L3_HUMAN	olfactory receptor, family 2, subfamily L, member 3	131					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1)	41	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			CCTCTTCACTATCCCATCCGC	0.433													38	190					0	0	1	0	0	T	248224375	A	T	248224375	3	4	171	1	0	0	0	0	1	0	0	0	11056	449	16	4	394	4	OR2L3	1	248224375	Missense_Mutation	SNP	A	TCGA-E1-A7YN-01A-11D-A34A-08	43785558	248224375	1026246	9	23732											
LRP2	4036	broad.mit.edu	37	2	170050323	170050323	+	Silent	SNP	G	G	A			TCGA-E1-A7YN-01A-11D-A34A-08	TCGA-E1-A7YN-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb1831c-3b62-45ce-8750-31fa7f3ebe7f	7a87f52e-8414-45c7-befa-a0acc48b6fbc	g.chr2:170050323G>A	ENST00000263816.3	-	47	9063	c.8778C>T	c.(8776-8778)gaC>gaT	p.D2926D		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2926	LDL-receptor class A 21.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	CATTATCACCGTCACAGATCC	0.473													18	111					0	0	1	0	0	A	170050323	G	A	170050323	2	1	171	1	0	0	0	0	0	0	0	1	9001	1136	40	1		1	LRP2	2	170050323	Silent	SNP	G	TCGA-E1-A7YN-01A-11D-A34A-08		170050323	73149050	10	23733											
TTN	7273	broad.mit.edu	37	2	179604671	179604671	+	Missense_Mutation	SNP	A	A	T			TCGA-E1-A7YN-01A-11D-A34A-08	TCGA-E1-A7YN-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb1831c-3b62-45ce-8750-31fa7f3ebe7f	7a87f52e-8414-45c7-befa-a0acc48b6fbc	g.chr2:179604671A>T	ENST00000589042.1	-	48	13513	c.13289T>A	c.(13288-13290)gTa>gAa	p.V4430E	TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000582847.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V4192E|TTN_ENST00000460472.2_Missense_Mutation_p.V4067E|TTN_ENST00000342175.6_Missense_Mutation_p.V4259E|TTN_ENST00000591111.1_Missense_Mutation_p.V4113E|TTN_ENST00000342992.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	4113	Ig-like 24.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGTGATGTTTACAGCCTCGAC	0.463													18	96					0	0	1	0	0	T	179604671	A	T	179604671	3	4	171	1	0	0	0	0	1	0	0	0	16797	391	14	5	91500	5	TTN	2	179604671	Missense_Mutation	SNP	A	TCGA-E1-A7YN-01A-11D-A34A-08	9554348	179604671	63594702	11	23734											
ANKMY1	51281	broad.mit.edu	37	2	241468646	241468646	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YN-01A-11D-A34A-08	TCGA-E1-A7YN-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb1831c-3b62-45ce-8750-31fa7f3ebe7f	7a87f52e-8414-45c7-befa-a0acc48b6fbc	g.chr2:241468646G>A	ENST00000391987.1	-	5	860	c.494C>T	c.(493-495)aCg>aTg	p.T165M	ANKMY1_ENST00000373318.2_Intron|ANKMY1_ENST00000403283.1_Intron|ANKMY1_ENST00000406958.1_Intron|ANKMY1_ENST00000405523.3_Intron|ANKMY1_ENST00000272972.3_Missense_Mutation_p.T165M|ANKMY1_ENST00000373320.4_Intron|ANKMY1_ENST00000405002.1_Intron|ANKMY1_ENST00000401804.1_Missense_Mutation_p.T254M|ANKMY1_ENST00000361678.4_Intron|ANKMY1_ENST00000462004.1_Intron|ANKMY1_ENST00000536462.1_Intron	NM_001282771.1	NP_001269700.1	Q9P2S6	ANKY1_HUMAN	ankyrin repeat and MYND domain containing 1	165							zinc ion binding			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	30		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476)		TGGAGGCAGCGTTAGGTTGTC	0.502													9	44					0	0	1	0	0	A	241468646	G	A	241468646	3	1	171	1	0	0	0	0	1	0	0	0	630	1145	40	1	2387	1	ANKMY1	2	241468646	Missense_Mutation	SNP	G	TCGA-E1-A7YN-01A-11D-A34A-08	61863975	241468646	1730727	12	23735											
CNTN4	152330	broad.mit.edu	37	3	2787238	2787238	+	Missense_Mutation	SNP	G	G	T			TCGA-E1-A7YN-01A-11D-A34A-08	TCGA-E1-A7YN-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb1831c-3b62-45ce-8750-31fa7f3ebe7f	7a87f52e-8414-45c7-befa-a0acc48b6fbc	g.chr3:2787238G>T	ENST00000397461.1	+	5	599	c.215G>T	c.(214-216)gGt>gTt	p.G72V	CNTN4_ENST00000418658.1_Missense_Mutation_p.G72V|CNTN4_ENST00000427331.1_Missense_Mutation_p.G72V	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	72	Ig-like C2-type 1.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		GTTGACACTGGTATGGATTTC	0.378													31	113					1.60099e-16	1.78292e-16	1	1	0	T	2787238	G	T	2787238	3	4	171	1	0	0	0	0	1	0	0	0	3666	1261	44	5	225	5	CNTN4	3	2787238	Missense_Mutation	SNP	G	TCGA-E1-A7YN-01A-11D-A34A-08		2787238	195235192	13	23736											
CLEC3B	7123	broad.mit.edu	37	3	45072406	45072406	+	Frame_Shift_Del	DEL	C	C	-			TCGA-E1-A7YN-01A-11D-A34A-08	TCGA-E1-A7YN-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb1831c-3b62-45ce-8750-31fa7f3ebe7f	7a87f52e-8414-45c7-befa-a0acc48b6fbc	g.chr3:45072406delC	ENST00000296130.4	+	2	377	c.197delC	c.(196-198)gccfs	p.A66fs	CLEC3B_ENST00000428034.1_Frame_Shift_Del_p.A24fs|CLEC3B_ENST00000490386.1_3'UTR	NM_003278.2	NP_003269.2	P05452	TETN_HUMAN	C-type lectin domain family 3, member B	66					skeletal system development	extracellular space	protein binding|sugar binding			endometrium(1)|lung(3)	4				BRCA - Breast invasive adenocarcinoma(193;0.00863)|KIRC - Kidney renal clear cell carcinoma(197;0.0475)|Kidney(197;0.0595)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GAGCAGCAGGCCCTGCAGACG	0.612													2	4	---	---	---	---						-	45072406	C	-	45072406	7	5	171	1	0	1	0	1	0	0	0	0	3534	739	26	0	203	0	CLEC3B	3	45072406	Frame_Shift_Del	DEL	C	TCGA-E1-A7YN-01A-11D-A34A-08	42285168	45072406	152950024	14	23737											
SMR3A	26952	broad.mit.edu	37	4	71232487	71232487	+	Missense_Mutation	SNP	G	G	T			TCGA-E1-A7YN-01A-11D-A34A-08	TCGA-E1-A7YN-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb1831c-3b62-45ce-8750-31fa7f3ebe7f	7a87f52e-8414-45c7-befa-a0acc48b6fbc	g.chr4:71232487G>T	ENST00000226460.4	+	3	277	c.181G>T	c.(181-183)Ggg>Tgg	p.G61W		NM_012390.3	NP_036522.3	Q99954	SMR3A_HUMAN	submaxillary gland androgen regulated protein 3A	61	Pro-rich.					extracellular region				endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(4)	15		all_hematologic(202;0.196)				CTATGGTCCAGGGAGATTTCC	0.552													13	80					9.05144e-12	9.85601e-12	1	1	0	T	71232487	G	T	71232487	3	4	171	1	0	0	0	0	1	0	0	0	14865	1000	35	4	187	4	SMR3A	4	71232487	Missense_Mutation	SNP	G	TCGA-E1-A7YN-01A-11D-A34A-08		71232487	119921789	15	23738											
FRAS1	80144	broad.mit.edu	37	4	79437135	79437135	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YN-01A-11D-A34A-08	TCGA-E1-A7YN-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb1831c-3b62-45ce-8750-31fa7f3ebe7f	7a87f52e-8414-45c7-befa-a0acc48b6fbc	g.chr4:79437135G>A	ENST00000264895.6	+	66	10797	c.10357G>A	c.(10357-10359)Gtc>Atc	p.V3453I		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	3448					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						GCTGATTGACGTCTGTGGGGG	0.537													4	21					0	0	1	0	0	A	79437135	G	A	79437135	3	1	171	1	0	0	0	0	1	0	0	0	6076	1145	40	1	10694	1	FRAS1	4	79437135	Missense_Mutation	SNP	G	TCGA-E1-A7YN-01A-11D-A34A-08	8204648	79437135	111717141	16	23739											
BMP3	651	broad.mit.edu	37	4	81967316	81967316	+	Silent	SNP	C	C	T			TCGA-E1-A7YN-01A-11D-A34A-08	TCGA-E1-A7YN-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb1831c-3b62-45ce-8750-31fa7f3ebe7f	7a87f52e-8414-45c7-befa-a0acc48b6fbc	g.chr4:81967316C>T	ENST00000282701.2	+	2	1061	c.741C>T	c.(739-741)gcC>gcT	p.A247A		NM_001201.2	NP_001192.2	P12645	BMP3_HUMAN	bone morphogenetic protein 3	247					cartilage development|cell differentiation|cell-cell signaling|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	29						CCAATGATGCCGCCATTTCTG	0.483													20	87					0	0	1	0	0	T	81967316	C	T	81967316	2	4	171	1	0	0	0	0	0	0	0	1	1460	639	23	1		1	BMP3	4	81967316	Silent	SNP	C	TCGA-E1-A7YN-01A-11D-A34A-08	2530181	81967316	109186960	17	23740											
UNC5C	8633	broad.mit.edu	37	4	96163694	96163694	+	Missense_Mutation	SNP	A	A	G			TCGA-E1-A7YN-01A-11D-A34A-08	TCGA-E1-A7YN-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb1831c-3b62-45ce-8750-31fa7f3ebe7f	7a87f52e-8414-45c7-befa-a0acc48b6fbc	g.chr4:96163694A>G	ENST00000453304.1	-	7	1342	c.994T>C	c.(994-996)Tgc>Cgc	p.C332R	UNC5C_ENST00000506749.1_Missense_Mutation_p.C332R	NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	332	TSP type-1 2.				apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		CAGTGGGTGCACTCAGTTCCA	0.592													7	28					0	0	1	0	0	G	96163694	A	G	96163694	3	3	171	1	0	0	0	0	1	0	0	0	17053	159	6	3	1841	3	UNC5C	4	96163694	Missense_Mutation	SNP	A	TCGA-E1-A7YN-01A-11D-A34A-08	14196378	96163694	94990582	18	23741											
UFSP2	55325	broad.mit.edu	37	4	186339907	186339907	+	Missense_Mutation	SNP	C	C	A			TCGA-E1-A7YN-01A-11D-A34A-08	TCGA-E1-A7YN-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb1831c-3b62-45ce-8750-31fa7f3ebe7f	7a87f52e-8414-45c7-befa-a0acc48b6fbc	g.chr4:186339907C>A	ENST00000264689.6	-	3	216	c.100G>T	c.(100-102)Gca>Tca	p.A34S	UFSP2_ENST00000502282.1_5'UTR	NM_018359.3	NP_060829.2	Q9NUQ7	UFSP2_HUMAN	UFM1-specific peptidase 2	34						endoplasmic reticulum|nucleus	small conjugating protein-specific protease activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;0.00109)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;3.4e-25)|Epithelial(43;2.23e-22)|OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;8.1e-05)|GBM - Glioblastoma multiforme(59;0.000148)|STAD - Stomach adenocarcinoma(60;0.000782)|LUSC - Lung squamous cell carcinoma(40;0.00939)|COAD - Colon adenocarcinoma(29;0.0108)|READ - Rectum adenocarcinoma(43;0.166)		TGTTTCAGTGCCTTCTTGAGA	0.343													9	52					0.00448238	0.00457576	1	1	0	A	186339907	C	A	186339907	3	1	171	1	0	0	0	0	1	0	0	0	16998	739	26	5	1349	5	UFSP2	4	186339907	Missense_Mutation	SNP	C	TCGA-E1-A7YN-01A-11D-A34A-08	90176213	186339907	4814369	19	23742											
TXNDC15	79770	broad.mit.edu	37	5	134210146	134210146	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YN-01A-11D-A34A-08	TCGA-E1-A7YN-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb1831c-3b62-45ce-8750-31fa7f3ebe7f	7a87f52e-8414-45c7-befa-a0acc48b6fbc	g.chr5:134210146C>T	ENST00000358387.4	+	1	654	c.29C>T	c.(28-30)cCc>cTc	p.P10L		NM_024715.3	NP_078991.3	Q96J42	TXD15_HUMAN	thioredoxin domain containing 15	10					cell redox homeostasis	integral to membrane				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CGACGACCGCCCCGCGTCATG	0.716													10	59					0	0	1	0	0	T	134210146	C	T	134210146	3	4	171	1	0	0	0	0	1	0	0	0	16856	623	22	2	31	2	TXNDC15	5	134210146	Missense_Mutation	SNP	C	TCGA-E1-A7YN-01A-11D-A34A-08		134210146	46705114	20	23743											
SH3RF2	153769	broad.mit.edu	37	5	145379666	145379666	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YN-01A-11D-A34A-08	TCGA-E1-A7YN-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb1831c-3b62-45ce-8750-31fa7f3ebe7f	7a87f52e-8414-45c7-befa-a0acc48b6fbc	g.chr5:145379666G>A	ENST00000511217.1	+	2	476	c.424G>A	c.(424-426)Ggt>Agt	p.G142S	SH3RF2_ENST00000359120.4_Missense_Mutation_p.G142S			Q8TEC5	SH3R2_HUMAN	SH3 domain containing ring finger 2	142	SH3 1.						ligase activity|protein phosphatase 1 binding|zinc ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GCAGAATCCCGGTGACCTAAG	0.483													12	56					0	0	1	0	0	A	145379666	G	A	145379666	3	1	171	1	0	0	0	0	1	0	0	0	14314	1116	39	1	430	1	SH3RF2	5	145379666	Missense_Mutation	SNP	G	TCGA-E1-A7YN-01A-11D-A34A-08	11169520	145379666	35535594	21	23744											
CAMK2A	815	broad.mit.edu	37	5	149636365	149636365	+	Missense_Mutation	SNP	A	A	G			TCGA-E1-A7YN-01A-11D-A34A-08	TCGA-E1-A7YN-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb1831c-3b62-45ce-8750-31fa7f3ebe7f	7a87f52e-8414-45c7-befa-a0acc48b6fbc	g.chr5:149636365A>G	ENST00000348628.6	-	5	967	c.302T>C	c.(301-303)aTc>aCc	p.I101T	CAMK2A_ENST00000398376.3_Missense_Mutation_p.I101T	NM_015981.3|NM_171825.2	NP_057065.2|NP_741960.1	Q9UQM7	KCC2A_HUMAN	calcium/calmodulin-dependent protein kinase II alpha	101	Protein kinase.				interferon-gamma-mediated signaling pathway|positive regulation of NF-kappaB transcription factor activity|synaptic transmission	cell junction|cytosol|endocytic vesicle membrane|nucleoplasm|presynaptic membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|skin(1)|stomach(1)	15		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCGGGCCACGATATCTTCAAA	0.592													9	28					0	0	1	0	0	G	149636365	A	G	149636365	3	3	171	1	0	0	0	0	1	0	0	0	2617	333	12	3	1227	3	CAMK2A	5	149636365	Missense_Mutation	SNP	A	TCGA-E1-A7YN-01A-11D-A34A-08	4256699	149636365	31278895	22	23745											
SCAND3	114821	broad.mit.edu	37	6	28539970	28539970	+	Silent	SNP	G	G	A			TCGA-E1-A7YN-01A-11D-A34A-08	TCGA-E1-A7YN-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb1831c-3b62-45ce-8750-31fa7f3ebe7f	7a87f52e-8414-45c7-befa-a0acc48b6fbc	g.chr6:28539970G>A	ENST00000452236.2	-	4	4313	c.3696C>T	c.(3694-3696)acC>acT	p.T1232T		NM_052923.1	NP_443155.1	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	1232					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						atccttcgtcggtagccagct	0.343													10	56					0	0	1	0	0	A	28539970	G	A	28539970	2	1	171	1	0	0	0	0	0	0	0	1	13929	1103	39	1		1	SCAND3	6	28539970	Silent	SNP	G	TCGA-E1-A7YN-01A-11D-A34A-08		28539970	142575097	23	23746											
COL11A2	1302	broad.mit.edu	37	6	33145197	33145197	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YN-01A-11D-A34A-08	TCGA-E1-A7YN-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb1831c-3b62-45ce-8750-31fa7f3ebe7f	7a87f52e-8414-45c7-befa-a0acc48b6fbc	g.chr6:33145197C>T	ENST00000341947.2	-	23	2190	c.1963G>A	c.(1963-1965)Ggg>Agg	p.G655R	COL11A2_ENST00000395197.1_Missense_Mutation_p.G595R|COL11A2_ENST00000361917.1_Missense_Mutation_p.G548R|COL11A2_ENST00000374712.1_Missense_Mutation_p.G574R|COL11A2_ENST00000374708.4_Missense_Mutation_p.G569R|COL11A2_ENST00000477772.1_5'UTR|COL11A2_ENST00000374714.1_Missense_Mutation_p.G629R|COL11A2_ENST00000374713.1_Missense_Mutation_p.G608R|COL11A2_ENST00000357486.1_Missense_Mutation_p.G634R	NM_080680.2	NP_542411.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	655	Triple-helical region.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						ACCTGGGTCCCAGGGGTGCCC	0.552													8	35					0	0	1	0	0	T	33145197	C	T	33145197	3	4	171	1	0	0	0	0	1	0	0	0	3691	594	21	2	3423	2	COL11A2	6	33145197	Missense_Mutation	SNP	C	TCGA-E1-A7YN-01A-11D-A34A-08	4605227	33145197	137969870	24	23747											
GPR115	221393	broad.mit.edu	37	6	47681909	47681909	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YN-01A-11D-A34A-08	TCGA-E1-A7YN-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb1831c-3b62-45ce-8750-31fa7f3ebe7f	7a87f52e-8414-45c7-befa-a0acc48b6fbc	g.chr6:47681909G>A	ENST00000283303.2	+	6	1186	c.928G>A	c.(928-930)Gtg>Atg	p.V310M	GPR115_ENST00000371220.1_Missense_Mutation_p.V367M|GPR115_ENST00000327753.3_Missense_Mutation_p.V310M	NM_153838.3	NP_722580.3	Q8IZF3	GP115_HUMAN	G protein-coupled receptor 115	310					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	52						CTTGCAAAATGTGAGTCTTCC	0.468													9	62					0	0	1	0	0	A	47681909	G	A	47681909	3	1	171	1	0	0	0	0	1	0	0	0	6672	1377	48	2	946	2	GPR115	6	47681909	Missense_Mutation	SNP	G	TCGA-E1-A7YN-01A-11D-A34A-08	14536712	47681909	123433158	25	23748											
DST	667	broad.mit.edu	37	6	56362694	56362695	+	Frame_Shift_Ins	INS	-	-	T			TCGA-E1-A7YN-01A-11D-A34A-08	TCGA-E1-A7YN-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb1831c-3b62-45ce-8750-31fa7f3ebe7f	7a87f52e-8414-45c7-befa-a0acc48b6fbc	g.chr6:56362694_56362695insT	ENST00000370754.5	-	81	19959_19960	c.19960_19961insA	c.(19960-19962)acafs	p.T6654fs	DST_ENST00000370788.2_Frame_Shift_Ins_p.T4279fs|DST_ENST00000340834.4_5'UTR|DST_ENST00000421834.2_Frame_Shift_Ins_p.T4388fs|DST_ENST00000370769.4_Frame_Shift_Ins_p.T6476fs|DST_ENST00000446842.2_Frame_Shift_Ins_p.T6150fs|DST_ENST00000361203.3_Frame_Shift_Ins_p.T6365fs|DST_ENST00000312431.6_3'UTR|DST_ENST00000244364.6_Frame_Shift_Ins_p.T4062fs			Q03001	DYST_HUMAN	dystonin	6474					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CCTTTGTTCTGTTTTTTCCAAA	0.391													8	44	---	---	---	---						T	56362695	-	T	56362694	7	5	171	1	0	1	1	0	0	0	0	0	4809	1377	48	0	3422	0	DST	6	56362694	Frame_Shift_Ins	INS	-	TCGA-E1-A7YN-01A-11D-A34A-08	8680785	56362694	114752373	26	23749											
MYO6	4646	broad.mit.edu	37	6	76599795	76599795	+	Missense_Mutation	SNP	C	C	G			TCGA-E1-A7YN-01A-11D-A34A-08	TCGA-E1-A7YN-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb1831c-3b62-45ce-8750-31fa7f3ebe7f	7a87f52e-8414-45c7-befa-a0acc48b6fbc	g.chr6:76599795C>G	ENST00000369981.3	+	26	2959	c.2680C>G	c.(2680-2682)Caa>Gaa	p.Q894E	MYO6_ENST00000369977.3_Missense_Mutation_p.Q894E|MYO6_ENST00000369985.4_Missense_Mutation_p.Q894E|MYO6_ENST00000369975.1_Missense_Mutation_p.Q894E			Q9UM54	MYO6_HUMAN	myosin VI	894					actin filament-based movement|DNA damage response, signal transduction by p53 class mediator|endocytosis|intracellular protein transport|positive regulation of transcription from RNA polymerase II promoter|regulation of secretion|sensory perception of sound|synaptic transmission	cell cortex|clathrin coated vesicle membrane|coated pit|cytosol|DNA-directed RNA polymerase II, holoenzyme|filamentous actin|Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|ruffle membrane|unconventional myosin complex	actin filament binding|ADP binding|ATP binding|calmodulin binding|minus-end directed microfilament motor activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	58		all_hematologic(105;0.189)		BRCA - Breast invasive adenocarcinoma(397;0.223)		GACGCAGGAACAAATCCAGAA	0.353													7	96					0	0	1	0	0	G	76599795	C	G	76599795	3	3	171	1	0	0	0	0	1	0	0	0	10129	479	17	5	2778	5	MYO6	6	76599795	Missense_Mutation	SNP	C	TCGA-E1-A7YN-01A-11D-A34A-08	20237101	76599795	94515272	27	23750											
LACE1	246269	broad.mit.edu	37	6	108645100	108645100	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YN-01A-11D-A34A-08	TCGA-E1-A7YN-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb1831c-3b62-45ce-8750-31fa7f3ebe7f	7a87f52e-8414-45c7-befa-a0acc48b6fbc	g.chr6:108645100G>A	ENST00000368977.4	+	2	397	c.211G>A	c.(211-213)Gtt>Att	p.V71I		NM_145315.3	NP_660358.2	Q8WV93	LACE1_HUMAN	lactation elevated 1	71							ATP binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	15		all_cancers(87;1.5e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;6.79e-05)|Colorectal(196;0.0294)|all_lung(197;0.0486)|Lung SC(18;0.152)		BRCA - Breast invasive adenocarcinoma(108;0.00179)|Epithelial(106;0.0024)|all cancers(137;0.00379)|OV - Ovarian serous cystadenocarcinoma(136;0.0118)		AGCTTTGGCCGTTTGCCATGG	0.398													24	133					0	0	1	0	0	A	108645100	G	A	108645100	3	1	171	1	0	0	0	0	1	0	0	0	8634	1145	40	1	217	1	LACE1	6	108645100	Missense_Mutation	SNP	G	TCGA-E1-A7YN-01A-11D-A34A-08	32045305	108645100	62469967	28	23751											
EYA4	2070	broad.mit.edu	37	6	133789766	133789766	+	Silent	SNP	G	G	A			TCGA-E1-A7YN-01A-11D-A34A-08	TCGA-E1-A7YN-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb1831c-3b62-45ce-8750-31fa7f3ebe7f	7a87f52e-8414-45c7-befa-a0acc48b6fbc	g.chr6:133789766G>A	ENST00000367895.5	+	11	1331	c.867G>A	c.(865-867)acG>acA	p.T289T	EYA4_ENST00000531901.1_Silent_p.T289T|EYA4_ENST00000355286.6_Silent_p.T266T|EYA4_ENST00000431403.2_Silent_p.T289T|EYA4_ENST00000430974.2_Silent_p.T235T|EYA4_ENST00000452339.2_Silent_p.T235T|EYA4_ENST00000525849.1_Silent_p.T266T|EYA4_ENST00000355167.3_Silent_p.T289T	NM_004100.4	NP_004091.3	O95677	EYA4_HUMAN	eyes absent homolog 4 (Drosophila)	289					anatomical structure morphogenesis|chromatin modification|DNA repair|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1)	48	Colorectal(23;0.221)			GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)		CAGCATCAACGTATGGAGCGT	0.423													13	52					0	0	1	0	0	A	133789766	G	A	133789766	2	1	171	1	0	0	0	0	0	0	0	1	5359	1132	40	1		1	EYA4	6	133789766	Silent	SNP	G	TCGA-E1-A7YN-01A-11D-A34A-08	25144666	133789766	37325301	29	23752											
BCLAF1	9774	broad.mit.edu	37	6	136594291	136594291	+	Silent	SNP	G	G	A	rs148264625	byFrequency	TCGA-E1-A7YN-01A-11D-A34A-08	TCGA-E1-A7YN-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb1831c-3b62-45ce-8750-31fa7f3ebe7f	7a87f52e-8414-45c7-befa-a0acc48b6fbc	g.chr6:136594291G>A	ENST00000531224.1	-	7	2139	c.1887C>T	c.(1885-1887)aaC>aaT	p.N629N	BCLAF1_ENST00000530767.1_Silent_p.N456N|BCLAF1_ENST00000527536.1_Silent_p.N629N|BCLAF1_ENST00000527759.1_Silent_p.N627N|BCLAF1_ENST00000353331.4_Silent_p.N627N|BCLAF1_ENST00000392348.2_Silent_p.N627N	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	629			N -> S (in dbSNP:rs7381749).		induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		TGAACCGCTCGTTTAGGGTCA	0.393													21	298					0	0	1	0	0	A	136594291	G	A	136594291	2	1	171	1	0	0	0	0	0	0	0	1	1381	1136	40	1		1	BCLAF1	6	136594291	Silent	SNP	G	TCGA-E1-A7YN-01A-11D-A34A-08	2804525	136594291	34520776	30	23753											
ISPD	729920	broad.mit.edu	37	7	16445756	16445756	+	Missense_Mutation	SNP	T	T	A			TCGA-E1-A7YN-01A-11D-A34A-08	TCGA-E1-A7YN-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb1831c-3b62-45ce-8750-31fa7f3ebe7f	7a87f52e-8414-45c7-befa-a0acc48b6fbc	g.chr7:16445756T>A	ENST00000407010.2	-	2	463	c.464A>T	c.(463-465)cAt>cTt	p.H155L	ISPD_ENST00000399310.3_Missense_Mutation_p.H155L	NM_001101426.3	NP_001094896.1	A4D126	ISPD_HUMAN	isoprenoid synthase domain containing	155					isoprenoid biosynthetic process		nucleotidyltransferase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)	9						CACAGCATCATGGATAATCAC	0.433										Multiple Myeloma(15;0.18)			10	65					0	0	1	0	0	A	16445756	T	A	16445756	3	1	171	1	0	0	0	0	1	0	0	0	7908	1464	51	4	927	4	ISPD	7	16445756	Missense_Mutation	SNP	T	TCGA-E1-A7YN-01A-11D-A34A-08		16445756	142692907	31	23754											
SCRN1	9805	broad.mit.edu	37	7	29976211	29976211	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YN-01A-11D-A34A-08	TCGA-E1-A7YN-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb1831c-3b62-45ce-8750-31fa7f3ebe7f	7a87f52e-8414-45c7-befa-a0acc48b6fbc	g.chr7:29976211G>A	ENST00000426154.1	-	6	1042	c.866C>T	c.(865-867)cCg>cTg	p.P289L	SCRN1_ENST00000416113.2_Missense_Mutation_p.P115L|SCRN1_ENST00000242059.5_Missense_Mutation_p.P289L|SCRN1_ENST00000409497.1_Missense_Mutation_p.P289L|SCRN1_ENST00000425819.2_Missense_Mutation_p.P221L|SCRN1_ENST00000434476.2_Missense_Mutation_p.P309L	NM_001145513.1	NP_001138985.1	Q12765	SCRN1_HUMAN	secernin 1	289					exocytosis|proteolysis	cytoplasm|nuclear membrane	dipeptidase activity	p.P289Q(1)|p.P309Q(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|ovary(2)|prostate(2)|skin(2)	25						GTGAATGCACGGAGAGCTTCT	0.522													26	160					0	0	1	0	0	A	29976211	G	A	29976211	3	1	171	1	0	0	0	0	1	0	0	0	13992	1116	39	1	390	1	SCRN1	7	29976211	Missense_Mutation	SNP	G	TCGA-E1-A7YN-01A-11D-A34A-08	13530455	29976211	129162452	32	23755											
SUMF2	25870	broad.mit.edu	37	7	56146102	56146102	+	Missense_Mutation	SNP	C	C	T	rs150538960		TCGA-E1-A7YN-01A-11D-A34A-08	TCGA-E1-A7YN-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb1831c-3b62-45ce-8750-31fa7f3ebe7f	7a87f52e-8414-45c7-befa-a0acc48b6fbc	g.chr7:56146102C>T	ENST00000434526.2	+	8	810	c.779C>T	c.(778-780)cCg>cTg	p.P260L	SUMF2_ENST00000413756.1_Missense_Mutation_p.P241L|SUMF2_ENST00000275607.9_Missense_Mutation_p.P153L|SUMF2_ENST00000342190.6_Intron|SUMF2_ENST00000437307.2_Missense_Mutation_p.P172L|SUMF2_ENST00000395435.2_Missense_Mutation_p.P176L|SUMF2_ENST00000395436.2_Missense_Mutation_p.P245L	NM_001042469.1|NM_015411.2	NP_001035934.2|NP_056226	Q8NBJ7	SUMF2_HUMAN	sulfatase modifying factor 2	241						endoplasmic reticulum lumen	metal ion binding			breast(2)|endometrium(2)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	14	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			ACAGCATCACCGTACCAGGCT	0.687													7	92					0	0	1	0	0	T	56146102	C	T	56146102	3	4	171	1	0	0	0	0	1	0	0	0	15442	652	23	1	809	1	SUMF2	7	56146102	Missense_Mutation	SNP	C	TCGA-E1-A7YN-01A-11D-A34A-08	26169891	56146102	102992561	33	23756											
ABCB1	5243	broad.mit.edu	37	7	87183144	87183144	+	Missense_Mutation	SNP	G	G	T			TCGA-E1-A7YN-01A-11D-A34A-08	TCGA-E1-A7YN-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb1831c-3b62-45ce-8750-31fa7f3ebe7f	7a87f52e-8414-45c7-befa-a0acc48b6fbc	g.chr7:87183144G>T	ENST00000265724.3	-	10	1349	c.932C>A	c.(931-933)gCt>gAt	p.A311D	ABCB1_ENST00000543898.1_Missense_Mutation_p.A247D	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	311	ABC transmembrane type-1 1.				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	GAAGGCCAGAGCATAAGATGC	0.383													25	128					7.92952e-12	8.73138e-12	1	1	0	T	87183144	G	T	87183144	3	4	171	1	0	0	0	0	1	0	0	0	40	971	34	4	2990	4	ABCB1	7	87183144	Missense_Mutation	SNP	G	TCGA-E1-A7YN-01A-11D-A34A-08	31037042	87183144	71955519	34	23757											
CYP3A4	1576	broad.mit.edu	37	7	99367747	99367747	+	Nonsense_Mutation	SNP	C	C	A			TCGA-E1-A7YN-01A-11D-A34A-08	TCGA-E1-A7YN-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb1831c-3b62-45ce-8750-31fa7f3ebe7f	7a87f52e-8414-45c7-befa-a0acc48b6fbc	g.chr7:99367747C>A	ENST00000336411.2	-	5	613	c.430G>T	c.(430-432)Gag>Tag	p.E144*	CYP3A4_ENST00000354593.2_Intron	NM_001202855.2|NM_017460.5	NP_001189784.1|NP_059488.2	P08684	CP3A4_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 4	144					alkaloid catabolic process|androgen metabolic process|exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid catabolic process|xenobiotic metabolic process	cell surface|endoplasmic reticulum membrane|integral to membrane|microsome	albendazole monooxygenase activity|caffeine oxidase activity|electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding|quinine 3-monooxygenase activity|steroid binding|taurochenodeoxycholate 6alpha-hydroxylase activity|testosterone 6-beta-hydroxylase activity|vitamin D 24-hydroxylase activity|vitamin D3 25-hydroxylase activity			breast(3)|central_nervous_system(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|skin(2)	18	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)				Albendazole(DB00518)|Alclometasone(DB00240)|Alfentanil(DB00802)|Alfuzosin(DB00346)|Aliskiren(DB01258)|Almotriptan(DB00918)|Alosetron(DB00969)|Alprazolam(DB00404)|Amlodipine(DB00381)|Amprenavir(DB00701)|Aprepitant(DB00673)|Aripiprazole(DB01238)|Astemizole(DB00637)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Benazepril(DB00542)|Bepridil(DB01244)|Betamethasone(DB00443)|Bexarotene(DB00307)|Bortezomib(DB00188)|Bosentan(DB00559)|Bromocriptine(DB01200)|Budesonide(DB01222)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Buspirone(DB00490)|Busulfan(DB01008)|Carbamazepine(DB00564)|Cevimeline(DB00185)|Chlorpheniramine(DB01114)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cinacalcet(DB01012)|Cisapride(DB00604)|Clarithromycin(DB01211)|Clindamycin(DB01190)|Clofibrate(DB00636)|Clonazepam(DB01068)|Clopidogrel(DB00758)|Cocaine(DB00907)|Conivaptan(DB00872)|Conjugated Estrogens(DB00286)|Cyproterone(DB04839)|Darifenacin(DB00496)|Darunavir(DB01264)|Dasatinib(DB01254)|Delavirdine(DB00705)|Desogestrel(DB00304)|Dexamethasone(DB01234)|Diazepam(DB00829)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dofetilide(DB00204)|Dolasetron(DB00757)|Domperidone(DB01184)|Donepezil(DB00843)|Doxorubicin(DB00997)|Drospirenone(DB01395)|Dutasteride(DB01126)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enalapril(DB00584)|Epirubicin(DB00445)|Eplerenone(DB00700)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethinyl Estradiol(DB00977)|Ethosuximide(DB00593)|Etonogestrel(DB00294)|Etoposide(DB00773)|Etoricoxib(DB01628)|Exemestane(DB00990)|Felodipine(DB01023)|Fentanyl(DB00813)|Fexofenadine(DB00950)|Finasteride(DB01216)|Fluconazole(DB00196)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Fosamprenavir(DB01319)|Fulvestrant(DB00947)|Galantamine(DB00674)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Granisetron(DB00889)|Grepafloxacin(DB00365)|Halofantrine(DB01218)|Hydrocodone(DB00956)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Hydromorphone(DB00327)|Imatinib(DB00619)|Indinavir(DB00224)|Ipratropium(DB00332)|Irinotecan(DB00762)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Isradipine(DB00270)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lercanidipine(DB00528)|Letrozole(DB01006)|Levobupivacaine(DB01002)|Levomethadyl Acetate(DB01227)|Levothyroxine(DB00451)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Maraviroc(DB04835)|Marinol(DB00470)|Mebendazole(DB00643)|Medroxyprogesterone(DB00603)|Methadone(DB00333)|Methylprednisolone(DB00959)|Metyrapone(DB01011)|Mibefradil(DB01388)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirtazapine(DB00370)|Modafinil(DB00745)|Mometasone(DB00764)|Montelukast(DB00471)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Norethindrone(DB00717)|Norgestrel(DB00506)|Nystatin(DB00646)|Ondansetron(DB00904)|Oxybutynin(DB01062)|Paclitaxel(DB01229)|Paliperidone(DB01267)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Paricalcitol(DB00910)|Phenmetrazine(DB00830)|Pimecrolimus(DB00337)|Pimozide(DB01100)|Pioglitazone(DB01132)|Posaconazole(DB01263)|Pranlukast(DB01411)|Prednisolone(DB00860)|Prednisone(DB00635)|Prochlorperazine(DB00433)|Quetiapine(DB01224)|Quinapril(DB00881)|Quinine(DB00468)|Rabeprazole(DB01129)|Ranolazine(DB00243)|Reboxetine(DB00234)|Retapamulin(DB01256)|Rifabutin(DB00615)|Rifampin(DB01045)|Rimonabant(DB06155)|Ritonavir(DB00503)|Rofecoxib(DB00533)|Roxithromycin(DB00778)|Salmeterol(DB00938)|Saquinavir(DB01232)|Sertindole(DB06144)|Sibutramine(DB01105)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|Solifenacin(DB01591)|Sorafenib(DB00398)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tadalafil(DB00820)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Terconazole(DB00251)|Terfenadine(DB00342)|Testosterone(DB00624)|Tiagabine(DB00906)|Ticlopidine(DB00208)|Tinidazole(DB00911)|Tiotropium(DB01409)|Tipranavir(DB00932)|Toremifene(DB00539)|Triazolam(DB00897)|Trimetrexate(DB01157)|Troglitazone(DB00197)|Valdecoxib(DB00580)|Vardenafil(DB00862)|Vinblastine(DB00570)|Vincristine(DB00541)|Vindesine(DB00309)|Vinorelbine(DB00361)|Voriconazole(DB00582)|Zaleplon(DB00962)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolpidem(DB00425)|Zonisamide(DB00909)	TTTCATACCTCCTTGAGTTTT	0.393													13	65					0.000422831	0.000445564	1	1	0	A	99367747	C	A	99367747	4	1	171	1	0	0	0	0	0	1	0	0	4201	864	30	5	1117	5	CYP3A4	7	99367747	Nonsense_Mutation	SNP	C	TCGA-E1-A7YN-01A-11D-A34A-08	12184603	99367747	59770916	35	23758											
LAMB1	3912	broad.mit.edu	37	7	107603490	107603490	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YN-01A-11D-A34A-08	TCGA-E1-A7YN-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb1831c-3b62-45ce-8750-31fa7f3ebe7f	7a87f52e-8414-45c7-befa-a0acc48b6fbc	g.chr7:107603490G>A	ENST00000393561.1	-	13	1973	c.1789C>T	c.(1789-1791)Cgg>Tgg	p.R597W	LAMB1_ENST00000393560.1_Missense_Mutation_p.R573W|LAMB1_ENST00000222399.6_Missense_Mutation_p.R573W			P07942	LAMB1_HUMAN	laminin, beta 1	573	Laminin IV type B.				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	ATATATTGCCGCTCCACTATG	0.448													18	130					0	0	1	0	0	A	107603490	G	A	107603490	3	1	171	1	0	0	0	0	1	0	0	0	8649	1086	38	1	3723	1	LAMB1	7	107603490	Missense_Mutation	SNP	G	TCGA-E1-A7YN-01A-11D-A34A-08	8235743	107603490	51535173	36	23759											
TRPV5	56302	broad.mit.edu	37	7	142606688	142606688	+	Silent	SNP	G	G	A			TCGA-E1-A7YN-01A-11D-A34A-08	TCGA-E1-A7YN-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb1831c-3b62-45ce-8750-31fa7f3ebe7f	7a87f52e-8414-45c7-befa-a0acc48b6fbc	g.chr7:142606688G>A	ENST00000265310.1	-	14	2211	c.1863C>T	c.(1861-1863)tgC>tgT	p.C621C		NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	621					protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					GCCCGAATTCGCACCCACAGA	0.607													10	48					0	0	1	0	0	A	142606688	G	A	142606688	2	1	171	1	0	0	0	0	0	0	0	1	16660	1079	38	1		1	TRPV5	7	142606688	Silent	SNP	G	TCGA-E1-A7YN-01A-11D-A34A-08	35003198	142606688	16531975	37	23760											
ZNF777	27153	broad.mit.edu	37	7	149152540	149152540	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YN-01A-11D-A34A-08	TCGA-E1-A7YN-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb1831c-3b62-45ce-8750-31fa7f3ebe7f	7a87f52e-8414-45c7-befa-a0acc48b6fbc	g.chr7:149152540C>T	ENST00000247930.4	-	2	897	c.574G>A	c.(574-576)Gtc>Atc	p.V192I		NM_015694.2	NP_056509.2	Q9ULD5	ZN777_HUMAN	zinc finger protein 777	192					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1)	26	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			ACTGCTTGGACGGCAGCCCAC	0.587													23	116					0	0	1	0	0	T	149152540	C	T	149152540	3	4	171	1	0	0	0	0	1	0	0	0	18199	536	19	1	1941	1	ZNF777	7	149152540	Missense_Mutation	SNP	C	TCGA-E1-A7YN-01A-11D-A34A-08	6545852	149152540	9986123	38	23761											
KCNH2	3757	broad.mit.edu	37	7	150646032	150646032	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YN-01A-11D-A34A-08	TCGA-E1-A7YN-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb1831c-3b62-45ce-8750-31fa7f3ebe7f	7a87f52e-8414-45c7-befa-a0acc48b6fbc	g.chr7:150646032C>T	ENST00000392968.2	-	8	3336	c.2216G>A	c.(2215-2217)cGg>cAg	p.R739Q	KCNH2_ENST00000330883.4_Missense_Mutation_p.R495Q|KCNH2_ENST00000262186.5_Missense_Mutation_p.R835Q			Q12809	KCNH2_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 2	835					blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661)	CAGGTCGTCCCGATGGATCTT	0.567													8	75					0	0	1	0	0	T	150646032	C	T	150646032	3	4	171	1	0	0	0	0	1	0	0	0	8076	652	23	1	999	1	KCNH2	7	150646032	Missense_Mutation	SNP	C	TCGA-E1-A7YN-01A-11D-A34A-08	1493492	150646032	8492631	39	23762											
NEFM	4741	broad.mit.edu	37	8	24771450	24771450	+	Silent	SNP	G	G	C			TCGA-E1-A7YN-01A-11D-A34A-08	TCGA-E1-A7YN-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb1831c-3b62-45ce-8750-31fa7f3ebe7f	7a87f52e-8414-45c7-befa-a0acc48b6fbc	g.chr8:24771450G>C	ENST00000221166.5	+	1	926	c.144G>C	c.(142-144)gtG>gtC	p.V48V	NEFM_ENST00000518131.1_Silent_p.V48V|NEFM_ENST00000521540.1_3'UTR|GS1-72M22.1_ENST00000607058.1_RNA|NEFM_ENST00000437366.2_Silent_p.V48V			P07197	NFM_HUMAN	neurofilament, medium polypeptide	48	Head.					neurofilament	protein binding|structural constituent of cytoskeleton			breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1)	36		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		CCAGCACCGTGTCCTCCTCCT	0.687													8	37					0	0	1	0	0	C	24771450	G	C	24771450	2	2	171	1	0	0	0	0	0	0	0	1	10363	1364	48	5		5	NEFM	8	24771450	Silent	SNP	G	TCGA-E1-A7YN-01A-11D-A34A-08		24771450	121592572	40	23763											
WHSC1L1	54904	broad.mit.edu	37	8	38187124	38187124	+	Silent	SNP	G	G	A			TCGA-E1-A7YN-01A-11D-A34A-08	TCGA-E1-A7YN-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb1831c-3b62-45ce-8750-31fa7f3ebe7f	7a87f52e-8414-45c7-befa-a0acc48b6fbc	g.chr8:38187124G>A	ENST00000317025.8	-	6	1870	c.1353C>T	c.(1351-1353)agC>agT	p.S451S	WHSC1L1_ENST00000316985.3_Silent_p.S451S|WHSC1L1_ENST00000527502.1_Silent_p.S451S|WHSC1L1_ENST00000433384.2_Silent_p.S451S	NM_023034.1	NP_075447.1	Q9BZ95	NSD3_HUMAN	Wolf-Hirschhorn syndrome candidate 1-like 1	451					cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome	histone-lysine N-methyltransferase activity|zinc ion binding			NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)			GCCGCCTCTGGCTATGTCTCC	0.522			T	NUP98	AML								21	97					0	0	1	0	0	A	38187124	G	A	38187124	2	1	171	1	0	0	0	0	0	0	0	1	17423	1194	42	2		2	WHSC1L1	8	38187124	Silent	SNP	G	TCGA-E1-A7YN-01A-11D-A34A-08	13415674	38187124	108176898	41	23764											
TRAPPC9	83696	broad.mit.edu	37	8	141407833	141407833	+	Silent	SNP	C	C	T			TCGA-E1-A7YN-01A-11D-A34A-08	TCGA-E1-A7YN-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb1831c-3b62-45ce-8750-31fa7f3ebe7f	7a87f52e-8414-45c7-befa-a0acc48b6fbc	g.chr8:141407833C>T	ENST00000389328.4	-	7	1328	c.1314G>A	c.(1312-1314)gcG>gcA	p.A438A	TRAPPC9_ENST00000389327.3_Silent_p.A331A|TRAPPC9_ENST00000438773.2_Silent_p.A340A	NM_031466.5	NP_113654.4	Q96Q05	TPPC9_HUMAN	trafficking protein particle complex 9	340					cell differentiation	endoplasmic reticulum|Golgi apparatus				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	47						CAATCACTCCCGCATTCTTAT	0.433													13	101					0	0	1	0	0	T	141407833	C	T	141407833	2	4	171	1	0	0	0	0	0	0	0	1	16526	639	23	1		1	TRAPPC9	8	141407833	Silent	SNP	C	TCGA-E1-A7YN-01A-11D-A34A-08	103220709	141407833	4956189	42	23765											
TEK	7010	broad.mit.edu	37	9	27217702	27217702	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YN-01A-11D-A34A-08	TCGA-E1-A7YN-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb1831c-3b62-45ce-8750-31fa7f3ebe7f	7a87f52e-8414-45c7-befa-a0acc48b6fbc	g.chr9:27217702G>A	ENST00000380036.4	+	19	3450	c.3008G>A	c.(3007-3009)cGc>cAc	p.R1003H	TEK_ENST00000519097.1_Missense_Mutation_p.R855H|TEK_ENST00000406359.4_Missense_Mutation_p.R960H	NM_000459.3	NP_000450	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial	1003	Protein kinase.				angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)		CTCCCAGTGCGCTGGATGGCC	0.483													10	33					0	0	1	0	0	A	27217702	G	A	27217702	3	1	171	1	0	0	0	0	1	0	0	0	15810	1087	38	1	3082	1	TEK	9	27217702	Missense_Mutation	SNP	G	TCGA-E1-A7YN-01A-11D-A34A-08		27217702	113995729	43	23766											
TAF1L	138474	broad.mit.edu	37	9	32632119	32632119	+	Silent	SNP	C	C	T			TCGA-E1-A7YN-01A-11D-A34A-08	TCGA-E1-A7YN-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb1831c-3b62-45ce-8750-31fa7f3ebe7f	7a87f52e-8414-45c7-befa-a0acc48b6fbc	g.chr9:32632119C>T	ENST00000242310.4	-	1	3548	c.3459G>A	c.(3457-3459)ctG>ctA	p.L1153L		NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	1153					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		AGCCTGCTACCAGTAGCATTC	0.483													12	65					0	0	1	0	0	T	32632119	C	T	32632119	2	4	171	1	0	0	0	0	0	0	0	1	15580	581	21	2		2	TAF1L	9	32632119	Silent	SNP	C	TCGA-E1-A7YN-01A-11D-A34A-08	5414417	32632119	108581312	44	23767											
HKDC1	80201	broad.mit.edu	37	10	71008236	71008236	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YN-01A-11D-A34A-08	TCGA-E1-A7YN-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb1831c-3b62-45ce-8750-31fa7f3ebe7f	7a87f52e-8414-45c7-befa-a0acc48b6fbc	g.chr10:71008236G>A	ENST00000354624.5	+	10	1455	c.1322G>A	c.(1321-1323)cGc>cAc	p.R441H	HKDC1_ENST00000488706.1_3'UTR|HKDC1_ENST00000395086.2_Missense_Mutation_p.R441H	NM_025130.3	NP_079406	Q2TB90	HKDC1_HUMAN	hexokinase domain containing 1	441					glycolysis	mitochondrion|nucleus	ATP binding|hexokinase activity	p.V440fs*51(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						TGTGATGTCCGCTTCCTCCTG	0.597													21	56					0	0	1	0	0	A	71008236	G	A	71008236	3	1	171	1	0	0	0	0	1	0	0	0	7234	1087	38	1	1360	1	HKDC1	10	71008236	Missense_Mutation	SNP	G	TCGA-E1-A7YN-01A-11D-A34A-08		71008236	64526511	45	23768											
OR51F2	119694	broad.mit.edu	37	11	4842972	4842972	+	Silent	SNP	C	C	T			TCGA-E1-A7YN-01A-11D-A34A-08	TCGA-E1-A7YN-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb1831c-3b62-45ce-8750-31fa7f3ebe7f	7a87f52e-8414-45c7-befa-a0acc48b6fbc	g.chr11:4842972C>T	ENST00000322110.5	+	1	422	c.357C>T	c.(355-357)caC>caT	p.H119H	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001004753.1	NP_001004753.1	Q8NH61	O51F2_HUMAN	olfactory receptor, family 51, subfamily F, member 2	119					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		TCTTTCTACACGGATTTACTT	0.468													21	139					0	0	1	0	0	T	4842972	C	T	4842972	2	4	171	1	0	0	0	0	0	0	0	1	11145	535	19	1		1	OR51F2	11	4842972	Silent	SNP	C	TCGA-E1-A7YN-01A-11D-A34A-08		4842972	130163544	46	23769											
MUC15	143662	broad.mit.edu	37	11	26584679	26584679	+	Silent	SNP	G	G	A			TCGA-E1-A7YN-01A-11D-A34A-08	TCGA-E1-A7YN-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb1831c-3b62-45ce-8750-31fa7f3ebe7f	7a87f52e-8414-45c7-befa-a0acc48b6fbc	g.chr11:26584679G>A	ENST00000436318.2	-	3	1042	c.909C>T	c.(907-909)gaC>gaT	p.D303D	MUC15_ENST00000529533.1_Silent_p.D303D|ANO3_ENST00000537978.1_Intron|ANO3_ENST00000256737.3_Intron|MUC15_ENST00000455601.2_Silent_p.D276D|MUC15_ENST00000527569.1_Intron|ANO3_ENST00000525139.1_Intron|ANO3_ENST00000531568.1_Intron|MUC15_ENST00000281268.8_Intron|ANO3_ENST00000529242.1_3'UTR			Q8N387	MUC15_HUMAN	mucin 15, cell surface associated	276						extracellular region|integral to membrane|plasma membrane		p.D276D(2)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25						CATTTCTGTCGTCATAAAGTC	0.408													22	102					0	0	1	0	0	A	26584679	G	A	26584679	2	1	171	1	0	0	0	0	0	0	0	1	10020	1136	40	1		1	MUC15	11	26584679	Silent	SNP	G	TCGA-E1-A7YN-01A-11D-A34A-08	21741707	26584679	108421837	47	23770											
OR4X2	119764	broad.mit.edu	37	11	48266656	48266656	+	Translation_Start_Site	SNP	A	A	T			TCGA-E1-A7YN-01A-11D-A34A-08	TCGA-E1-A7YN-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb1831c-3b62-45ce-8750-31fa7f3ebe7f	7a87f52e-8414-45c7-befa-a0acc48b6fbc	g.chr11:48266656A>T	ENST00000302329.3	+	1	49	c.1A>T	c.(1-3)Atg>Ttg	p.M1L		NM_001004727.1	NP_001004727.1	Q8NGF9	OR4X2_HUMAN	olfactory receptor, family 4, subfamily X, member 2	1					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(4)|lung(12)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	20						CATACACAACATGACTGAATT	0.418													7	79					0	0	1	0	0	T	48266656	A	T	48266656	1	4	171	1	0	0	0	0	0	0	0	0	11133	231	8	4		4	OR4X2	11	48266656	Translation_Start_Site	SNP	A	TCGA-E1-A7YN-01A-11D-A34A-08	21681977	48266656	86739860	48	23771											
MS4A6A	64231	broad.mit.edu	37	11	59949075	59949075	+	Silent	SNP	G	G	A	rs113133013		TCGA-E1-A7YN-01A-11D-A34A-08	TCGA-E1-A7YN-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb1831c-3b62-45ce-8750-31fa7f3ebe7f	7a87f52e-8414-45c7-befa-a0acc48b6fbc	g.chr11:59949075G>A	ENST00000528851.1	-	2	266	c.126C>T	c.(124-126)caC>caT	p.H42H	MS4A6A_ENST00000412309.2_Silent_p.H70H|MS4A6A_ENST00000323961.3_Silent_p.H42H|MS4A6A_ENST00000426738.2_Silent_p.H42H|MS4A6A_ENST00000532169.1_Silent_p.H42H|MS4A6A_ENST00000533023.1_Silent_p.H42H|MS4A6A_ENST00000420732.2_Silent_p.H42H|MS4A6A_ENST00000530839.1_Silent_p.H42H|MS4A6A_ENST00000529054.1_Silent_p.H70H			Q9H2W1	M4A6A_HUMAN	membrane-spanning 4-domains, subfamily A, member 6A	42						integral to membrane	receptor activity	p.H42H(1)		endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TGATTTCTGCGTGTAGATGTT	0.468													29	95					0	0	1	0	0	A	59949075	G	A	59949075	2	1	171	1	0	0	0	0	0	0	0	1	9913	1136	40	1		1	MS4A6A	11	59949075	Silent	SNP	G	TCGA-E1-A7YN-01A-11D-A34A-08	11682419	59949075	75057441	49	23772											
MS4A7	58475	broad.mit.edu	37	11	60152586	60152586	+	Missense_Mutation	SNP	T	T	G			TCGA-E1-A7YN-01A-11D-A34A-08	TCGA-E1-A7YN-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb1831c-3b62-45ce-8750-31fa7f3ebe7f	7a87f52e-8414-45c7-befa-a0acc48b6fbc	g.chr11:60152586T>G	ENST00000300184.3	+	3	369	c.173T>G	c.(172-174)tTg>tGg	p.L58W	MS4A7_ENST00000530234.2_Missense_Mutation_p.L58W|MS4A7_ENST00000534016.1_Intron|MS4A7_ENST00000358246.1_Intron|MS4A14_ENST00000531787.1_Intron	NM_021201.4|NM_206939.1	NP_067024.1|NP_996822.1	Q9GZW8	MS4A7_HUMAN	membrane-spanning 4-domains, subfamily A, member 7	58						integral to membrane	receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(8)|ovary(1)|skin(1)	20						TGTTGCCTGTTGATTTCAAGT	0.438													18	124					0	0	1	0	0	G	60152586	T	G	60152586	3	3	171	1	0	0	0	0	1	0	0	0	9915	1821	63	5	179	5	MS4A7	11	60152586	Missense_Mutation	SNP	T	TCGA-E1-A7YN-01A-11D-A34A-08	203511	60152586	74853930	50	23773											
KAT5	10524	broad.mit.edu	37	11	65486590	65486590	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YN-01A-11D-A34A-08	TCGA-E1-A7YN-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb1831c-3b62-45ce-8750-31fa7f3ebe7f	7a87f52e-8414-45c7-befa-a0acc48b6fbc	g.chr11:65486590C>T	ENST00000341318.4	+	13	1813	c.1579C>T	c.(1579-1581)Cgg>Tgg	p.R527W	RNASEH2C_ENST00000308418.4_3'UTR|KAT5_ENST00000352980.4_Missense_Mutation_p.R442W|KAT5_ENST00000530446.1_Missense_Mutation_p.R475W|KAT5_ENST00000377046.3_Missense_Mutation_p.R494W|KAT5_ENST00000534650.1_Missense_Mutation_p.R283W	NM_182710.2	NP_874369.1	Q92993	KAT5_HUMAN	K(lysine) acetyltransferase 5	494					androgen receptor signaling pathway|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|double-strand break repair|interspecies interaction between organisms|negative regulation of interleukin-2 production|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of growth|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nucleolus|perinuclear region of cytoplasm|Piccolo NuA4 histone acetyltransferase complex	androgen receptor binding|histone acetyltransferase activity|metal ion binding|repressing transcription factor binding|transcription coactivator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)	21						GCGGCTCCTGCGGATCGACTC	0.607													8	32					0	0	1	0	0	T	65486590	C	T	65486590	3	4	171	1	0	0	0	0	1	0	0	0	8027	759	27	1	1629	1	KAT5	11	65486590	Missense_Mutation	SNP	C	TCGA-E1-A7YN-01A-11D-A34A-08	5334004	65486590	69519926	51	23774											
CATSPER1	117144	broad.mit.edu	37	11	65788325	65788325	+	Silent	SNP	C	C	T			TCGA-E1-A7YN-01A-11D-A34A-08	TCGA-E1-A7YN-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb1831c-3b62-45ce-8750-31fa7f3ebe7f	7a87f52e-8414-45c7-befa-a0acc48b6fbc	g.chr11:65788325C>T	ENST00000312106.5	-	6	2021	c.1884G>A	c.(1882-1884)acG>acA	p.T628T		NM_053054.3	NP_444282.3	Q8NEC5	CTSR1_HUMAN	cation channel, sperm associated 1	628					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	protein binding			breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						AGTCATCCAGCGTGAGCAAGG	0.637													6	31					0	0	1	0	0	T	65788325	C	T	65788325	2	4	171	1	0	0	0	0	0	0	0	1	2705	755	27	1		1	CATSPER1	11	65788325	Silent	SNP	C	TCGA-E1-A7YN-01A-11D-A34A-08	301735	65788325	69218191	52	23775											
DYNC2H1	79659	broad.mit.edu	37	11	103116061	103116061	+	Frame_Shift_Del	DEL	C	C	-			TCGA-E1-A7YN-01A-11D-A34A-08	TCGA-E1-A7YN-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb1831c-3b62-45ce-8750-31fa7f3ebe7f	7a87f52e-8414-45c7-befa-a0acc48b6fbc	g.chr11:103116061delC	ENST00000375735.2	+	65	10144	c.10000delC	c.(10000-10002)cctfs	p.P3334fs	DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Frame_Shift_Del_p.P3341fs	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	3334	AAA 5 (By similarity).				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		TGGTGTAGAACCTGTTCTTTA	0.313													2	4	---	---	---	---						-	103116061	C	-	103116061	7	5	171	1	0	1	0	1	0	0	0	0	4872	507	18	0	10283	0	DYNC2H1	11	103116061	Frame_Shift_Del	DEL	C	TCGA-E1-A7YN-01A-11D-A34A-08	37327736	103116061	31890455	53	23776											
DDI1	414301	broad.mit.edu	37	11	103908727	103908727	+	Nonsense_Mutation	SNP	C	C	T			TCGA-E1-A7YN-01A-11D-A34A-08	TCGA-E1-A7YN-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb1831c-3b62-45ce-8750-31fa7f3ebe7f	7a87f52e-8414-45c7-befa-a0acc48b6fbc	g.chr11:103908727C>T	ENST00000302259.3	+	1	1420	c.1177C>T	c.(1177-1179)Cga>Tga	p.R393*	PDGFD_ENST00000302251.5_Intron|PDGFD_ENST00000393158.2_Intron	NM_001001711.2	NP_001001711.1	Q8WTU0	DDI1_HUMAN	DNA-damage inducible 1 homolog 1 (S. cerevisiae)	393					proteolysis		aspartic-type endopeptidase activity	p.R393*(2)		central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)		GGATTCAGGACGAAAAGAGCA	0.428													5	18					0	0	1	0	0	T	103908727	C	T	103908727	4	4	171	1	0	0	0	0	0	1	0	0	4351	528	19	1	1179	1	DDI1	11	103908727	Nonsense_Mutation	SNP	C	TCGA-E1-A7YN-01A-11D-A34A-08	792666	103908727	31097789	54	23777											
ANO2	57101	broad.mit.edu	37	12	5708776	5708776	+	Nonsense_Mutation	SNP	G	G	A			TCGA-E1-A7YN-01A-11D-A34A-08	TCGA-E1-A7YN-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb1831c-3b62-45ce-8750-31fa7f3ebe7f	7a87f52e-8414-45c7-befa-a0acc48b6fbc	g.chr12:5708776G>A	ENST00000546188.1	-	21	2181	c.2110C>T	c.(2110-2112)Cga>Tga	p.R704*	ANO2_ENST00000327087.8_Nonsense_Mutation_p.R703*|ANO2_ENST00000356134.5_Nonsense_Mutation_p.R704*			Q9NQ90	ANO2_HUMAN	anoctamin 2	708						chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity	p.R704*(1)		central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						TTCAGCTTTCGAAATAGTTTC	0.428													10	55					0	0	1	0	0	A	5708776	G	A	5708776	4	1	171	1	0	0	0	0	0	1	0	0	691	1066	37	1	913	1	ANO2	12	5708776	Nonsense_Mutation	SNP	G	TCGA-E1-A7YN-01A-11D-A34A-08		5708776	128143119	55	23778											
A2M	2	broad.mit.edu	37	12	9248214	9248214	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YN-01A-11D-A34A-08	TCGA-E1-A7YN-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb1831c-3b62-45ce-8750-31fa7f3ebe7f	7a87f52e-8414-45c7-befa-a0acc48b6fbc	g.chr12:9248214C>T	ENST00000318602.7	-	16	2241	c.1934G>A	c.(1933-1935)cGt>cAt	p.R645H		NM_000014.4	NP_000005	P01023	A2MG_HUMAN	alpha-2-macroglobulin	645					blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)	GACATTATGACGATTGATGCA	0.398													4	59					0	0	1	0	0	T	9248214	C	T	9248214	3	4	171	1	0	0	0	0	1	0	0	0	4	536	19	1	2574	1	A2M	12	9248214	Missense_Mutation	SNP	C	TCGA-E1-A7YN-01A-11D-A34A-08	3539438	9248214	124603681	56	23779											
CLEC2B	9976	broad.mit.edu	37	12	10005934	10005934	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YN-01A-11D-A34A-08	TCGA-E1-A7YN-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb1831c-3b62-45ce-8750-31fa7f3ebe7f	7a87f52e-8414-45c7-befa-a0acc48b6fbc	g.chr12:10005934C>T	ENST00000228438.2	-	5	1348	c.415G>A	c.(415-417)Gaa>Aaa	p.E139K	CLEC2B_ENST00000538152.1_Missense_Mutation_p.E70K	NM_005127.2	NP_005118.2	Q92478	CLC2B_HUMAN	C-type lectin domain family 2, member B	139	C-type lectin.					integral to plasma membrane	sugar binding			endometrium(1)|large_intestine(3)|lung(1)	5						CATTTTCTTTCGGTGTAACAT	0.383													7	32					0	0	1	0	0	T	10005934	C	T	10005934	3	4	171	1	0	0	0	0	1	0	0	0	3530	893	31	1	38	1	CLEC2B	12	10005934	Missense_Mutation	SNP	C	TCGA-E1-A7YN-01A-11D-A34A-08	757720	10005934	123845961	57	23780											
SLCO1B1	10599	broad.mit.edu	37	12	21355502	21355502	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YN-01A-11D-A34A-08	TCGA-E1-A7YN-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb1831c-3b62-45ce-8750-31fa7f3ebe7f	7a87f52e-8414-45c7-befa-a0acc48b6fbc	g.chr12:21355502G>A	ENST00000256958.2	+	10	1309	c.1213G>A	c.(1213-1215)Gtt>Att	p.V405I		NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family, member 1B1	405					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)	ACTGAACACCGTTGGAATTGC	0.313													20	46					0	0	1	0	0	A	21355502	G	A	21355502	3	1	171	1	0	0	0	0	1	0	0	0	14778	1145	40	1	1247	1	SLCO1B1	12	21355502	Missense_Mutation	SNP	G	TCGA-E1-A7YN-01A-11D-A34A-08	11349568	21355502	112496393	58	23781											
MYO1A	4640	broad.mit.edu	37	12	57422571	57422571	+	Missense_Mutation	SNP	C	C	A			TCGA-E1-A7YN-01A-11D-A34A-08	TCGA-E1-A7YN-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb1831c-3b62-45ce-8750-31fa7f3ebe7f	7a87f52e-8414-45c7-befa-a0acc48b6fbc	g.chr12:57422571C>A	ENST00000442789.2	-	29	3387	c.3100G>T	c.(3100-3102)Ggg>Tgg	p.G1034W	MYO1A_ENST00000544473.1_Missense_Mutation_p.G872W|TAC3_ENST00000415231.1_5'UTR|MYO1A_ENST00000300119.3_Missense_Mutation_p.G1034W	NM_001256041.1	NP_001242970.1	Q9UBC5	MYO1A_HUMAN	myosin IA	1034					sensory perception of sound|vesicle localization	brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						CAATGACTCCCCTTTTTTTTG	0.562													16	119					4.7546e-09	5.12034e-09	1	1	0	A	57422571	C	A	57422571	3	1	171	1	0	0	0	0	1	0	0	0	10116	623	22	5	35	5	MYO1A	12	57422571	Missense_Mutation	SNP	C	TCGA-E1-A7YN-01A-11D-A34A-08	36067069	57422571	76429324	59	23782											
FGF14	2259	broad.mit.edu	37	13	102375254	102375254	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YN-01A-11D-A34A-08	TCGA-E1-A7YN-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb1831c-3b62-45ce-8750-31fa7f3ebe7f	7a87f52e-8414-45c7-befa-a0acc48b6fbc	g.chr13:102375254G>A	ENST00000376131.4	-	5	781	c.686C>T	c.(685-687)aCg>aTg	p.T229M	ITGBL1_ENST00000415285.1_3'UTR|FGF14_ENST00000376143.4_Missense_Mutation_p.T224M	NM_175929.2	NP_787125.1	Q92915	FGF14_HUMAN	fibroblast growth factor 14	224					cell death|cell-cell signaling|JNK cascade|nervous system development|signal transduction	nucleus	growth factor activity|heparin binding	p.T224M(1)|p.T229M(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)	29	all_neural(89;0.0239)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TTTACTTGGCGTCACCCCAGG	0.473													10	76					0	0	1	0	0	A	102375254	G	A	102375254	3	1	171	1	0	0	0	0	1	0	0	0	5876	1145	40	1	76	1	FGF14	13	102375254	Missense_Mutation	SNP	G	TCGA-E1-A7YN-01A-11D-A34A-08		102375254	12794624	60	23783											
SPTBN5	51332	broad.mit.edu	37	15	42166142	42166142	+	Silent	SNP	G	G	A			TCGA-E1-A7YN-01A-11D-A34A-08	TCGA-E1-A7YN-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb1831c-3b62-45ce-8750-31fa7f3ebe7f	7a87f52e-8414-45c7-befa-a0acc48b6fbc	g.chr15:42166142G>A	ENST00000320955.6	-	25	5018	c.4791C>T	c.(4789-4791)atC>atT	p.I1597I		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	1597					actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		ACTGCTCCACGATGTGTTGGG	0.647													4	33					0	0	1	0	0	A	42166142	G	A	42166142	2	1	171	1	0	0	0	0	0	0	0	1	15178	1048	37	1		1	SPTBN5	15	42166142	Silent	SNP	G	TCGA-E1-A7YN-01A-11D-A34A-08		42166142	60365250	61	23784											
SPESP1	246777	broad.mit.edu	37	15	69238119	69238119	+	Silent	SNP	C	C	T			TCGA-E1-A7YN-01A-11D-A34A-08	TCGA-E1-A7YN-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb1831c-3b62-45ce-8750-31fa7f3ebe7f	7a87f52e-8414-45c7-befa-a0acc48b6fbc	g.chr15:69238119C>T	ENST00000310673.3	+	2	400	c.246C>T	c.(244-246)gaC>gaT	p.D82D	RP11-809H16.2_ENST00000557966.1_RNA|SPESP1_ENST00000560188.1_3'UTR|NOX5_ENST00000448182.3_Intron|NOX5_ENST00000455873.3_Intron|NOX5_ENST00000260364.5_Intron	NM_145658.3	NP_663633.1	Q6UW49	SPESP_HUMAN	sperm equatorial segment protein 1	82					multicellular organismal development	acrosomal vesicle				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	19						CACATGGAGACGCTTCAACTG	0.393													21	64					0	0	1	0	0	T	69238119	C	T	69238119	2	4	171	1	0	0	0	0	0	0	0	1	15096	535	19	1		1	SPESP1	15	69238119	Silent	SNP	C	TCGA-E1-A7YN-01A-11D-A34A-08	27071977	69238119	33293273	62	23785											
ISLR2	57611	broad.mit.edu	37	15	74425299	74425299	+	Silent	SNP	C	C	T			TCGA-E1-A7YN-01A-11D-A34A-08	TCGA-E1-A7YN-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb1831c-3b62-45ce-8750-31fa7f3ebe7f	7a87f52e-8414-45c7-befa-a0acc48b6fbc	g.chr15:74425299C>T	ENST00000361742.3	+	4	973	c.204C>T	c.(202-204)cgC>cgT	p.R68R	ISLR2_ENST00000561975.1_Intron|ISLR2_ENST00000565159.1_Silent_p.R68R|ISLR2_ENST00000435464.1_Silent_p.R68R|ISLR2_ENST00000445793.1_Silent_p.R68R|ISLR2_ENST00000453268.2_Silent_p.R68R|ISLR2_ENST00000419208.1_Silent_p.R68R|ISLR2_ENST00000565540.1_Silent_p.R68R	NM_001130136.1|NM_020851.2	NP_001123608.1|NP_065902.1	Q6UXK2	ISLR2_HUMAN	immunoglobulin superfamily containing leucine-rich repeat 2	68					positive regulation of axon extension	cell surface|integral to membrane|plasma membrane				breast(3)|endometrium(6)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36						TGCTGCGGCGCGGGGCCTTCG	0.642													4	61					0	0	1	0	0	T	74425299	C	T	74425299	2	4	171	1	0	0	0	0	0	0	0	1	7903	755	27	1		1	ISLR2	15	74425299	Silent	SNP	C	TCGA-E1-A7YN-01A-11D-A34A-08	5187180	74425299	28106093	63	23786											
FES	2242	broad.mit.edu	37	15	91436545	91436545	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YN-01A-11D-A34A-08	TCGA-E1-A7YN-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb1831c-3b62-45ce-8750-31fa7f3ebe7f	7a87f52e-8414-45c7-befa-a0acc48b6fbc	g.chr15:91436545G>A	ENST00000328850.3	+	16	2088	c.1946G>A	c.(1945-1947)cGc>cAc	p.R649H	FES_ENST00000450438.2_Missense_Mutation_p.R521H|FES_ENST00000414248.2_Missense_Mutation_p.R521H|FES_ENST00000444422.2_Missense_Mutation_p.R579H|FES_ENST00000394300.3_Missense_Mutation_p.R591H|FES_ENST00000394302.1_Missense_Mutation_p.R508H	NM_002005.3	NP_001996.1	P07332	FES_HUMAN	feline sarcoma oncogene	649	Protein kinase.				axon guidance|cell proliferation|peptidyl-tyrosine phosphorylation	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			lung(2)|ovary(1)	3	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			ACCTTCCTCCGCACGGAGGGG	0.672													5	25					0	0	1	0	0	A	91436545	G	A	91436545	3	1	171	1	0	0	0	0	1	0	0	0	5853	1087	38	1	2004	1	FES	15	91436545	Missense_Mutation	SNP	G	TCGA-E1-A7YN-01A-11D-A34A-08	17011246	91436545	11094847	64	23787											
ABCC1	4363	broad.mit.edu	37	16	16162084	16162084	+	Silent	SNP	C	C	T			TCGA-E1-A7YN-01A-11D-A34A-08	TCGA-E1-A7YN-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb1831c-3b62-45ce-8750-31fa7f3ebe7f	7a87f52e-8414-45c7-befa-a0acc48b6fbc	g.chr16:16162084C>T	ENST00000399408.2	+	13	1924	c.1749C>T	c.(1747-1749)ttC>ttT	p.F583F	ABCC1_ENST00000346370.5_Silent_p.F583F|ABCC1_ENST00000351154.5_Silent_p.F583F|ABCC1_ENST00000349029.5_Silent_p.F583F|ABCC1_ENST00000399410.3_Silent_p.F583F|ABCC1_ENST00000345148.5_Silent_p.F583F			P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 1	583	ABC transmembrane type-1 1.				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	AGACAGCCTTCGTGTCTTTGG	0.562													31	91					0	0	1	0	0	T	16162084	C	T	16162084	2	4	171	1	0	0	0	0	0	0	0	1	49	883	31	1		1	ABCC1	16	16162084	Silent	SNP	C	TCGA-E1-A7YN-01A-11D-A34A-08		16162084	74192669	65	23788											
ABCC11	85320	broad.mit.edu	37	16	48256601	48256601	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YN-01A-11D-A34A-08	TCGA-E1-A7YN-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb1831c-3b62-45ce-8750-31fa7f3ebe7f	7a87f52e-8414-45c7-befa-a0acc48b6fbc	g.chr16:48256601G>A	ENST00000394747.1	-	5	1034	c.685C>T	c.(685-687)Cgc>Tgc	p.R229C	ABCC11_ENST00000537808.1_Missense_Mutation_p.R229C|ABCC11_ENST00000394748.1_Missense_Mutation_p.R229C|ABCC11_ENST00000356608.2_Missense_Mutation_p.R229C|ABCC11_ENST00000353782.5_Missense_Mutation_p.R229C	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	229	ABC transmembrane type-1 1.					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)				ATGGCTGTGCGTTGGTTGATG	0.483													13	62					0	0	1	0	0	A	48256601	G	A	48256601	3	1	171	1	0	0	0	0	1	0	0	0	51	1145	40	1	3563	1	ABCC11	16	48256601	Missense_Mutation	SNP	G	TCGA-E1-A7YN-01A-11D-A34A-08	32094517	48256601	42098152	66	23789											
ANKRD11	29123	broad.mit.edu	37	16	89348857	89348857	+	Nonsense_Mutation	SNP	G	G	A			TCGA-E1-A7YN-01A-11D-A34A-08	TCGA-E1-A7YN-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb1831c-3b62-45ce-8750-31fa7f3ebe7f	7a87f52e-8414-45c7-befa-a0acc48b6fbc	g.chr16:89348857G>A	ENST00000301030.4	-	9	4553	c.4093C>T	c.(4093-4095)Cga>Tga	p.R1365*	ANKRD11_ENST00000378330.2_Nonsense_Mutation_p.R1365*	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	1365	Lys-rich.					nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		TTCTTGGCTCGCTCTCGGTCG	0.562													14	55					0	0	1	0	0	A	89348857	G	A	89348857	4	1	171	1	0	0	0	0	0	1	0	0	635	1095	38	1	3918	1	ANKRD11	16	89348857	Nonsense_Mutation	SNP	G	TCGA-E1-A7YN-01A-11D-A34A-08	41092256	89348857	1005896	67	23790											
PITPNM3	83394	broad.mit.edu	37	17	6380417	6380417	+	Silent	SNP	C	C	T			TCGA-E1-A7YN-01A-11D-A34A-08	TCGA-E1-A7YN-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb1831c-3b62-45ce-8750-31fa7f3ebe7f	7a87f52e-8414-45c7-befa-a0acc48b6fbc	g.chr17:6380417C>T	ENST00000262483.8	-	9	1104	c.1017G>A	c.(1015-1017)ccG>ccA	p.P339P	PITPNM3_ENST00000421306.3_Silent_p.P303P	NM_031220.3	NP_112497.2	Q9BZ71	PITM3_HUMAN	PITPNM family member 3						phosphatidylinositol metabolic process	endomembrane system|integral to membrane	calcium ion binding|lipid binding|phosphatidylinositol transporter activity|receptor tyrosine kinase binding			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(3)|skin(2)	36				Colorectal(2;0.000372)|READ - Rectum adenocarcinoma(2;0.0276)|LUAD - Lung adenocarcinoma(2;0.0836)|COAD - Colon adenocarcinoma(228;0.185)		TCTGTTTCCGCGGCAACGGCC	0.582													8	30					0	0	1	0	0	T	6380417	C	T	6380417	2	4	171	1	0	0	0	0	0	0	0	1	12000	755	27	1		1	PITPNM3	17	6380417	Silent	SNP	C	TCGA-E1-A7YN-01A-11D-A34A-08		6380417	74814793	68	23791											
DNAH2	146754	broad.mit.edu	37	17	7646393	7646393	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YN-01A-11D-A34A-08	TCGA-E1-A7YN-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb1831c-3b62-45ce-8750-31fa7f3ebe7f	7a87f52e-8414-45c7-befa-a0acc48b6fbc	g.chr17:7646393C>T	ENST00000572933.1	+	12	3297	c.1837C>T	c.(1837-1839)Cgg>Tgg	p.R613W	DNAH2_ENST00000389173.2_Missense_Mutation_p.R613W|DNAH2_ENST00000082259.3_Missense_Mutation_p.R695W|DNAH2_ENST00000570791.1_Missense_Mutation_p.R695W			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	613	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TTGCATTCGGCGGTTGGATAC	0.527													7	64					0	0	1	0	0	T	7646393	C	T	7646393	3	4	171	1	0	0	0	0	1	0	0	0	4630	759	27	1	1879	1	DNAH2	17	7646393	Missense_Mutation	SNP	C	TCGA-E1-A7YN-01A-11D-A34A-08	1265976	7646393	73548817	69	23792											
GAS7	8522	broad.mit.edu	37	17	9837515	9837515	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YN-01A-11D-A34A-08	TCGA-E1-A7YN-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb1831c-3b62-45ce-8750-31fa7f3ebe7f	7a87f52e-8414-45c7-befa-a0acc48b6fbc	g.chr17:9837515C>T	ENST00000323816.4	-	10	835	c.673G>A	c.(673-675)Gaa>Aaa	p.E225K	GAS7_ENST00000585266.1_Missense_Mutation_p.E225K|GAS7_ENST00000580865.1_Missense_Mutation_p.E145K|GAS7_ENST00000396115.2_Intron|GAS7_ENST00000583882.1_Intron|GAS7_ENST00000437099.2_Missense_Mutation_p.E221K|GAS7_ENST00000579158.1_Missense_Mutation_p.E221K|GAS7_ENST00000432992.2_Missense_Mutation_p.E285K|GAS7_ENST00000542249.1_Missense_Mutation_p.E221K|GAS7_ENST00000540214.1_Intron			O60861	GAS7_HUMAN	growth arrest-specific 7	289	FCH.				cell cycle arrest	cytoplasm	sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(7)|lung(18)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	39						ACTTCTGCTTCGTCCGCCAGG	0.537			T	MLL	AML*								11	43					0	0	1	0	0	T	9837515	C	T	9837515	3	4	171	1	0	0	0	0	1	0	0	0	6290	893	31	1	601	1	GAS7	17	9837515	Missense_Mutation	SNP	C	TCGA-E1-A7YN-01A-11D-A34A-08	2191122	9837515	71357695	70	23793											
DNAH9	1770	broad.mit.edu	37	17	11573026	11573026	+	Nonsense_Mutation	SNP	C	C	T			TCGA-E1-A7YN-01A-11D-A34A-08	TCGA-E1-A7YN-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb1831c-3b62-45ce-8750-31fa7f3ebe7f	7a87f52e-8414-45c7-befa-a0acc48b6fbc	g.chr17:11573026C>T	ENST00000262442.4	+	17	3336	c.3268C>T	c.(3268-3270)Cga>Tga	p.R1090*	DNAH9_ENST00000454412.2_Nonsense_Mutation_p.R1090*	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9		Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		AATTGATATTCGACCCTTTAA	0.443													23	153					0	0	1	0	0	T	11573026	C	T	11573026	4	4	171	1	0	0	0	0	0	1	0	0	4635	876	31	1	3334	1	DNAH9	17	11573026	Nonsense_Mutation	SNP	C	TCGA-E1-A7YN-01A-11D-A34A-08	1735511	11573026	69622184	71	23794											
OTOP2	92736	broad.mit.edu	37	17	72926410	72926410	+	Missense_Mutation	SNP	T	T	A			TCGA-E1-A7YN-01A-11D-A34A-08	TCGA-E1-A7YN-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb1831c-3b62-45ce-8750-31fa7f3ebe7f	7a87f52e-8414-45c7-befa-a0acc48b6fbc	g.chr17:72926410T>A	ENST00000331427.4	+	6	772	c.680T>A	c.(679-681)cTc>cAc	p.L227H	OTOP2_ENST00000580223.1_Missense_Mutation_p.L227H	NM_178160.2	NP_835454.1	Q7RTS6	OTOP2_HUMAN	otopetrin 2	227						integral to membrane				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|prostate(4)|skin(1)|urinary_tract(2)	39	all_lung(278;0.172)|Lung NSC(278;0.207)					GACTCCTGCCTCTGCAGCACG	0.577													39	170					0	0	1	0	0	A	72926410	T	A	72926410	3	1	171	1	0	0	0	0	1	0	0	0	11353	1551	54	5	698	5	OTOP2	17	72926410	Missense_Mutation	SNP	T	TCGA-E1-A7YN-01A-11D-A34A-08	61353384	72926410	8268800	72	23795											
DSG1	1828	broad.mit.edu	37	18	28913648	28913648	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YN-01A-11D-A34A-08	TCGA-E1-A7YN-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb1831c-3b62-45ce-8750-31fa7f3ebe7f	7a87f52e-8414-45c7-befa-a0acc48b6fbc	g.chr18:28913648G>A	ENST00000257192.4	+	7	993	c.781G>A	c.(781-783)Gat>Aat	p.D261N		NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	261	Cadherin 2.				calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			TAAAATCCTCGATGTCAATGA	0.398													9	46					0	0	1	0	0	A	28913648	G	A	28913648	3	1	171	1	0	0	0	0	1	0	0	0	4802	1058	37	1	807	1	DSG1	18	28913648	Missense_Mutation	SNP	G	TCGA-E1-A7YN-01A-11D-A34A-08		28913648	49163600	73	23796											
ZNF285	26974	broad.mit.edu	37	19	44891689	44891689	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YN-01A-11D-A34A-08	TCGA-E1-A7YN-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb1831c-3b62-45ce-8750-31fa7f3ebe7f	7a87f52e-8414-45c7-befa-a0acc48b6fbc	g.chr19:44891689C>T	ENST00000330997.4	-	4	782	c.718G>A	c.(718-720)Gcc>Acc	p.A240T	ZNF285_ENST00000544719.2_Missense_Mutation_p.A240T|ZNF285_ENST00000591679.1_Missense_Mutation_p.A247T|CTC-512J12.6_ENST00000588212.1_Intron	NM_152354.3	NP_689567.3			zinc finger protein 285											breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						TCTGCAAAGGCCACCCCACAG	0.433													26	128					0	0	1	0	0	T	44891689	C	T	44891689	3	4	171	1	0	0	0	0	1	0	0	0	17880	739	26	2	1058	2	ZNF285	19	44891689	Missense_Mutation	SNP	C	TCGA-E1-A7YN-01A-11D-A34A-08		44891689	14237294	74	23797											
PPM1N	147699	broad.mit.edu	37	19	46002331	46002331	+	Silent	SNP	C	C	A			TCGA-E1-A7YN-01A-11D-A34A-08	TCGA-E1-A7YN-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb1831c-3b62-45ce-8750-31fa7f3ebe7f	7a87f52e-8414-45c7-befa-a0acc48b6fbc	g.chr19:46002331C>A	ENST00000324688.4	+	1	467	c.367C>A	c.(367-369)Cgg>Agg	p.R123R	PPM1N_ENST00000401705.1_Intron|PPM1N_ENST00000396737.2_Intron|PPM1N_ENST00000456399.2_Intron|PPM1N_ENST00000451287.2_Silent_p.R201R			Q8N819	PPM1N_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1N (putative)	201	PP2C-like.						magnesium ion binding|manganese ion binding|phosphoprotein phosphatase activity			NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)	9						AGAGGACCACCGGCCCCTTCG	0.736													7	14					0.00198382	0.00204647	1	1	0	A	46002331	C	A	46002331	2	1	171	1	0	0	0	0	0	0	0	1	12395	643	23	5		5	PPM1N	19	46002331	Silent	SNP	C	TCGA-E1-A7YN-01A-11D-A34A-08	1110642	46002331	13126652	75	23798											
CRX	1406	broad.mit.edu	37	19	48339541	48339541	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YN-01A-11D-A34A-08	TCGA-E1-A7YN-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb1831c-3b62-45ce-8750-31fa7f3ebe7f	7a87f52e-8414-45c7-befa-a0acc48b6fbc	g.chr19:48339541C>T	ENST00000221996.7	+	3	348	c.142C>T	c.(142-144)Cgg>Tgg	p.R48W	TPRX2P_ENST00000535362.1_Intron|CRX_ENST00000539067.1_Missense_Mutation_p.R48W	NM_000554.4	NP_000545.1	O43186	CRX_HUMAN	cone-rod homeobox	48					organ morphogenesis|response to stimulus|visual perception		leucine zipper domain binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|urinary_tract(1)	23		all_cancers(25;2.76e-09)|all_epithelial(76;7.01e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)		OV - Ovarian serous cystadenocarcinoma(262;0.000266)|all cancers(93;0.000788)|Epithelial(262;0.0226)|GBM - Glioblastoma multiforme(486;0.0521)		CACCTTCACCCGGAGCCAACT	0.632													8	52					0	0	1	0	0	T	48339541	C	T	48339541	3	4	171	1	0	0	0	0	1	0	0	0	3925	643	23	1	148	1	CRX	19	48339541	Missense_Mutation	SNP	C	TCGA-E1-A7YN-01A-11D-A34A-08	2337210	48339541	10789442	76	23799											
ZNF473	25888	broad.mit.edu	37	19	50548736	50548736	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YN-01A-11D-A34A-08	TCGA-E1-A7YN-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb1831c-3b62-45ce-8750-31fa7f3ebe7f	7a87f52e-8414-45c7-befa-a0acc48b6fbc	g.chr19:50548736C>T	ENST00000595661.1	+	6	1531	c.1036C>T	c.(1036-1038)Cgc>Tgc	p.R346C	ZNF473_ENST00000391821.2_Missense_Mutation_p.R346C|ZNF473_ENST00000270617.3_Missense_Mutation_p.R346C|CTD-2126E3.3_ENST00000599410.1_RNA|ZNF473_ENST00000601364.1_Intron|ZNF473_ENST00000445728.3_Missense_Mutation_p.R334C|CTD-2126E3.3_ENST00000599914.1_RNA			Q8WTR7	ZN473_HUMAN	zinc finger protein 473	346	Interaction with SLBP/pre-mRNA complex.				histone mRNA 3'-end processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription	Cajal body	DNA binding|protein binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37		all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)		CACTCGGAAACGCTATGAGTG	0.478													10	53					0	0	1	0	0	T	50548736	C	T	50548736	3	4	171	1	0	0	0	0	1	0	0	0	17988	536	19	1	1050	1	ZNF473	19	50548736	Missense_Mutation	SNP	C	TCGA-E1-A7YN-01A-11D-A34A-08	2209195	50548736	8580247	77	23800											
XKR7	343702	broad.mit.edu	37	20	30585186	30585186	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YN-01A-11D-A34A-08	TCGA-E1-A7YN-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb1831c-3b62-45ce-8750-31fa7f3ebe7f	7a87f52e-8414-45c7-befa-a0acc48b6fbc	g.chr20:30585186C>T	ENST00000562532.2	+	3	1840	c.1666C>T	c.(1666-1668)Cct>Tct	p.P556S		NM_001011718.1	NP_001011718.1	Q5GH72	XKR7_HUMAN	XK, Kell blood group complex subunit-related family, member 7							integral to membrane				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			GTACTCCTCACCTGCCACGCC	0.587													17	59					0	0	1	0	0	T	30585186	C	T	30585186	3	4	171	1	0	0	0	0	1	0	0	0	17496	507	18	2	1676	2	XKR7	20	30585186	Missense_Mutation	SNP	C	TCGA-E1-A7YN-01A-11D-A34A-08		30585186	32440334	78	23801											
FAM83D	81610	broad.mit.edu	37	20	37555323	37555325	+	In_Frame_Del	DEL	GCG	GCG	-			TCGA-E1-A7YN-01A-11D-A34A-08	TCGA-E1-A7YN-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb1831c-3b62-45ce-8750-31fa7f3ebe7f	7a87f52e-8414-45c7-befa-a0acc48b6fbc	g.chr20:37555323_37555325delGCG	ENST00000217429.4	+	1	369_371	c.328_330delGCG	c.(328-330)gcgdel	p.A116del		NM_030919.2	NP_112181.2	Q9H4H8	FA83D_HUMAN	family with sequence similarity 83, member D	86					cell division|mitosis	cytoplasm|spindle pole				endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)|stomach(1)	28		Myeloproliferative disorder(115;0.00878)				AGAGGAGGGCgcggcggcggcgg	0.719													2	4	---	---	---	---						-	37555325	GCG	-	37555323	7	5	171	1	0	1	0	1	0	0	0	0	5668	1087	38	0	330	0	FAM83D	20	37555323	In_Frame_Del	DEL	GCG	TCGA-E1-A7YN-01A-11D-A34A-08	6970137	37555323	25470197	79	23802											
ZXDB	158586	broad.mit.edu	37	X	57619831	57619831	+	Silent	SNP	C	C	T			TCGA-E1-A7YN-01A-11D-A34A-08	TCGA-E1-A7YN-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb1831c-3b62-45ce-8750-31fa7f3ebe7f	7a87f52e-8414-45c7-befa-a0acc48b6fbc	g.chrX:57619831C>T	ENST00000374888.1	+	1	1563	c.1350C>T	c.(1348-1350)ggC>ggT	p.G450G		NM_007157.3	NP_009088.1	P98169	ZXDB_HUMAN	zinc finger, X-linked, duplicated B	450	Required for interaction with ZXDC (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(2)|skin(6)	27						GTCACACCGGCGAGAGACCTT	0.483													16	75					0	0	1	0	0	T	57619831	C	T	57619831	2	4	171	1	0	0	0	0	0	0	0	1	18291	755	27	1		1	ZXDB	23	57619831	Silent	SNP	C	TCGA-E1-A7YN-01A-11D-A34A-08		57619831	97650729	80	23803											
IL1RAPL2	26280	broad.mit.edu	37	X	104984675	104984675	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YN-01A-11D-A34A-08	TCGA-E1-A7YN-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb1831c-3b62-45ce-8750-31fa7f3ebe7f	7a87f52e-8414-45c7-befa-a0acc48b6fbc	g.chrX:104984675C>T	ENST00000372582.1	+	8	1795	c.1039C>T	c.(1039-1041)Cgt>Tgt	p.R347C	IL1RAPL2_ENST00000485671.1_3'UTR|IL1RAPL2_ENST00000344799.4_Missense_Mutation_p.R347C	NM_017416.1	NP_059112.1	Q9NP60	IRPL2_HUMAN	interleukin 1 receptor accessory protein-like 2	347	Ig-like C2-type 3.				central nervous system development|innate immune response	integral to membrane	interleukin-1, Type II, blocking receptor activity	p.R347C(1)		breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						TGTTTTGCTGCGTAAAAAGGG	0.368													13	84					0	0	1	0	0	T	104984675	C	T	104984675	3	4	171	1	0	0	0	0	1	0	0	0	7706	768	27	1	1065	1	IL1RAPL2	23	104984675	Missense_Mutation	SNP	C	TCGA-E1-A7YN-01A-11D-A34A-08	47364844	104984675	50285885	81	23804											
DCX	1641	broad.mit.edu	37	X	110644519	110644519	+	Frame_Shift_Del	DEL	T	T	-			TCGA-E1-A7YN-01A-11D-A34A-08	TCGA-E1-A7YN-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb1831c-3b62-45ce-8750-31fa7f3ebe7f	7a87f52e-8414-45c7-befa-a0acc48b6fbc	g.chrX:110644519delT	ENST00000338081.3	-	3	818	c.647delA	c.(646-648)aagfs	p.K216fs	DCX_ENST00000371993.2_Frame_Shift_Del_p.K135fs|DCX_ENST00000356915.2_Frame_Shift_Del_p.K135fs|DCX_ENST00000488120.1_Frame_Shift_Del_p.K135fs|DCX_ENST00000356220.3_Frame_Shift_Del_p.K135fs|DCX_ENST00000496551.1_5'UTR	NM_000555.3	NP_000546.2	O43602	DCX_HUMAN	doublecortin	216	Doublecortin 1.				axon guidance|central nervous system development|intracellular signal transduction	cytosol|microtubule associated complex	microtubule binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|skin(6)|upper_aerodigestive_tract(1)	41						GTACTCCACCTTTTTAAAGAA	0.403													17	88	---	---	---	---						-	110644519	T	-	110644519	7	5	171	1	0	1	0	1	0	0	0	0	4341	1609	56	0	713	0	DCX	23	110644519	Frame_Shift_Del	DEL	T	TCGA-E1-A7YN-01A-11D-A34A-08	5659844	110644519	44626041	82	23805											
PNMA3	29944	broad.mit.edu	37	X	152226591	152226591	+	Silent	SNP	A	A	T			TCGA-E1-A7YN-01A-11D-A34A-08	TCGA-E1-A7YN-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb1831c-3b62-45ce-8750-31fa7f3ebe7f	7a87f52e-8414-45c7-befa-a0acc48b6fbc	g.chrX:152226591A>T	ENST00000447306.1	+	2	1515	c.1179A>T	c.(1177-1179)cgA>cgT	p.R393R	PNMA3_ENST00000370264.4_Silent_p.R393R|PNMA3_ENST00000370265.4_Silent_p.R393R	NM_013364.4	NP_037496.4	Q9UL41	PNMA3_HUMAN	paraneoplastic Ma antigen 3	393	Arg-rich.				apoptosis	nucleolus	nucleic acid binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	16	Acute lymphoblastic leukemia(192;6.56e-05)					GCCAACACCGAAGGGGTGGTG	0.607													7	54					0	0	1	0	0	T	152226591	A	T	152226591	2	4	171	1	0	0	0	0	0	0	0	1	12203	233	9	5		5	PNMA3	23	152226591	Silent	SNP	A	TCGA-E1-A7YN-01A-11D-A34A-08	41582072	152226591	3043969	83	23806											
OPN1LW	5956	broad.mit.edu	37	X	153421855	153421855	+	Nonsense_Mutation	SNP	C	C	G			TCGA-E1-A7YN-01A-11D-A34A-08	TCGA-E1-A7YN-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb1831c-3b62-45ce-8750-31fa7f3ebe7f	7a87f52e-8414-45c7-befa-a0acc48b6fbc	g.chrX:153421855C>G	ENST00000369951.4	+	5	891	c.831C>G	c.(829-831)taC>taG	p.Y277*	OPN1LW_ENST00000463296.1_3'UTR	NM_020061.4	NP_064445.2	P04000	OPSR_HUMAN	opsin 1 (cone pigments), long-wave-sensitive	277					phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity			endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	15	all_cancers(53;1.83e-16)|all_epithelial(53;2.73e-10)|all_lung(58;6.39e-07)|Lung NSC(58;8.37e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TCTTTGCGTACTGCGTCTGCT	0.567													52	200					0	0	1	0	0	G	153421855	C	G	153421855	4	3	171	1	0	0	0	0	0	1	0	0	10925	576	20	4	849	4	OPN1LW	23	153421855	Nonsense_Mutation	SNP	C	TCGA-E1-A7YN-01A-11D-A34A-08	1195264	153421855	1848705	84	23807											
CLSPN	63967	broad.mit.edu	37	1	36230093	36230093	+	Missense_Mutation	SNP	A	A	G			TCGA-E1-A7YO-01A-11D-A34A-08	TCGA-E1-A7YO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f873874-9d78-4712-a6e6-c2c13e15016c	4093478e-c54d-4591-8b4a-61929343c9c5	g.chr1:36230093A>G	ENST00000251195.5	-	3	452	c.356T>C	c.(355-357)tTg>tCg	p.L119S	CLSPN_ENST00000520551.1_Missense_Mutation_p.L119S|CLSPN_ENST00000373220.3_Missense_Mutation_p.L119S|CLSPN_ENST00000318121.3_Missense_Mutation_p.L119S			Q9HAW4	CLSPN_HUMAN	claspin	119					activation of protein kinase activity|cell cycle|cellular component disassembly involved in apoptosis|DNA repair|DNA replication|G2/M transition DNA damage checkpoint|mitotic cell cycle DNA replication checkpoint|peptidyl-serine phosphorylation	nucleoplasm	anaphase-promoting complex binding|DNA binding			NS(2)|breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				TTCCTGATACAAAGACTTTTC	0.363													19	28					0	0	1	0	0	G	36230093	A	G	36230093	3	3	172	1	0	0	0	0	1	0	0	0	3583	131	5	3	3755	3	CLSPN	1	36230093	Missense_Mutation	SNP	A	TCGA-E1-A7YO-01A-11D-A34A-08		36230093	213020528	1	23808											
FUBP1	8880	broad.mit.edu	37	1	78430654	78430654	+	Splice_Site	SNP	C	C	T			TCGA-E1-A7YO-01A-11D-A34A-08	TCGA-E1-A7YO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f873874-9d78-4712-a6e6-c2c13e15016c	4093478e-c54d-4591-8b4a-61929343c9c5	g.chr1:78430654C>T	ENST00000370767.1	-	9	724		c.e9-1		FUBP1_ENST00000370768.2_Splice_Site|FUBP1_ENST00000436586.2_Splice_Site			Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1						transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						CAGCCCGTTCCTGTTACAATC	0.368			"F, N"		oligodendroglioma								57	15					0	0	1	0	0	T	78430654	C	T	78430654	5	4	172	1	0	0	0	0	0	0	1	0	6127	695	24	2	1346	2	FUBP1	1	78430654	Splice_Site	SNP	C	TCGA-E1-A7YO-01A-11D-A34A-08	42200561	78430654	170819967	2	23809											
TCHHL1	126637	broad.mit.edu	37	1	152059508	152059508	+	Frame_Shift_Del	DEL	T	T	-			TCGA-E1-A7YO-01A-11D-A34A-08	TCGA-E1-A7YO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f873874-9d78-4712-a6e6-c2c13e15016c	4093478e-c54d-4591-8b4a-61929343c9c5	g.chr1:152059508delT	ENST00000368806.1	-	3	714	c.650delA	c.(649-651)aagfs	p.K217fs		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	217							calcium ion binding	p.K217M(1)		breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			ACTGCTGGTCTTTTTTGATCC	0.448													20	33	---	---	---	---						-	152059508	T	-	152059508	7	5	172	1	0	1	0	1	0	0	0	0	15761	1609	56	0	2068	0	TCHHL1	1	152059508	Frame_Shift_Del	DEL	T	TCGA-E1-A7YO-01A-11D-A34A-08	73628854	152059508	97191113	3	23810											
CENPL	91687	broad.mit.edu	37	1	173776588	173776588	+	Silent	SNP	G	G	A			TCGA-E1-A7YO-01A-11D-A34A-08	TCGA-E1-A7YO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f873874-9d78-4712-a6e6-c2c13e15016c	4093478e-c54d-4591-8b4a-61929343c9c5	g.chr1:173776588G>A	ENST00000356198.2	-	4	522	c.237C>T	c.(235-237)ccC>ccT	p.P79P	CENPL_ENST00000367710.3_Silent_p.P79P|CENPL_ENST00000345664.6_Silent_p.P79P	NM_001127181.2	NP_001120653.1	Q8N0S6	CENPL_HUMAN	centromere protein L	79					mitotic prometaphase	chromosome, centromeric region|cytosol|nucleus				breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(3)	11						ATTTATATAAGGGAGTTAAAC	0.333													11	69					0	0	1	0	0	A	173776588	G	A	173776588	2	1	172	1	0	0	0	0	0	0	0	1	3258	987	35	2		2	CENPL	1	173776588	Silent	SNP	G	TCGA-E1-A7YO-01A-11D-A34A-08	21717080	173776588	75474033	4	23811											
ASTN1	460	broad.mit.edu	37	1	176853605	176853605	+	Silent	SNP	G	G	A	rs144434019		TCGA-E1-A7YO-01A-11D-A34A-08	TCGA-E1-A7YO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f873874-9d78-4712-a6e6-c2c13e15016c	4093478e-c54d-4591-8b4a-61929343c9c5	g.chr1:176853605G>A	ENST00000367654.3	-	19	3331	c.3120C>T	c.(3118-3120)caC>caT	p.H1040H	ASTN1_ENST00000424564.2_Silent_p.H1032H|ASTN1_ENST00000367657.3_Silent_p.H1032H|ASTN1_ENST00000361833.2_Silent_p.H1032H	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1		Fibronectin type-III 1.				cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						TGCTGGGCTCGTGAACCGTGG	0.522													3	70					0	0	1	0	0	A	176853605	G	A	176853605	2	1	172	1	0	0	0	0	0	0	0	1	1063	1136	40	1		1	ASTN1	1	176853605	Silent	SNP	G	TCGA-E1-A7YO-01A-11D-A34A-08	3077017	176853605	72397016	5	23812											
CEP350	9857	broad.mit.edu	37	1	179959716	179959716	+	Missense_Mutation	SNP	G	G	C			TCGA-E1-A7YO-01A-11D-A34A-08	TCGA-E1-A7YO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f873874-9d78-4712-a6e6-c2c13e15016c	4093478e-c54d-4591-8b4a-61929343c9c5	g.chr1:179959716G>C	ENST00000367607.3	+	4	613	c.195G>C	c.(193-195)aaG>aaC	p.K65N		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	65						centrosome|nucleus|spindle				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						TGGATACCAAGAAGTCTTCTA	0.313													6	12					0	0	1	0	0	C	179959716	G	C	179959716	3	2	172	1	0	0	0	0	1	0	0	0	3276	933	33	4	205	4	CEP350	1	179959716	Missense_Mutation	SNP	G	TCGA-E1-A7YO-01A-11D-A34A-08	3106111	179959716	69290905	6	23813											
KIF26B	55083	broad.mit.edu	37	1	245862232	245862232	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YO-01A-11D-A34A-08	TCGA-E1-A7YO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f873874-9d78-4712-a6e6-c2c13e15016c	4093478e-c54d-4591-8b4a-61929343c9c5	g.chr1:245862232G>A	ENST00000366518.4	+	11	5032	c.4928G>A	c.(4927-4929)cGc>cAc	p.R1643H	KIF26B_ENST00000407071.2_Missense_Mutation_p.R2024H			Q2KJY2	KI26B_HUMAN	kinesin family member 26B	2024					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	p.R2024H(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			CTGGAACACCGCCAGCAGAGG	0.572													18	31					0	0	1	0	0	A	245862232	G	A	245862232	3	1	172	1	0	0	0	0	1	0	0	0	8337	1087	38	1	6125	1	KIF26B	1	245862232	Missense_Mutation	SNP	G	TCGA-E1-A7YO-01A-11D-A34A-08	65902516	245862232	3388389	7	23814											
LTBP1	4052	broad.mit.edu	37	2	33477781	33477781	+	Silent	SNP	T	T	C			TCGA-E1-A7YO-01A-11D-A34A-08	TCGA-E1-A7YO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f873874-9d78-4712-a6e6-c2c13e15016c	4093478e-c54d-4591-8b4a-61929343c9c5	g.chr2:33477781T>C	ENST00000404816.2	+	11	2390	c.2037T>C	c.(2035-2037)tgT>tgC	p.C679C	LTBP1_ENST00000407925.1_Silent_p.C353C|LTBP1_ENST00000354476.3_Silent_p.C679C|LTBP1_ENST00000404525.1_Silent_p.C353C|LTBP1_ENST00000418533.2_Silent_p.C353C|LTBP1_ENST00000402934.1_Silent_p.C353C|LTBP1_ENST00000390003.4_Silent_p.C353C			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	679	TB 2.				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				AAGGGCCCTGTTACCGACTTG	0.512													4	107					0	0	1	0	0	C	33477781	T	C	33477781	2	2	172	1	0	0	0	0	0	0	0	1	9118	1731	60	3		3	LTBP1	2	33477781	Silent	SNP	T	TCGA-E1-A7YO-01A-11D-A34A-08		33477781	209721592	8	23815											
ARL6IP6	151188	broad.mit.edu	37	2	153575515	153575515	+	Missense_Mutation	SNP	C	C	G			TCGA-E1-A7YO-01A-11D-A34A-08	TCGA-E1-A7YO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f873874-9d78-4712-a6e6-c2c13e15016c	4093478e-c54d-4591-8b4a-61929343c9c5	g.chr2:153575515C>G	ENST00000326446.5	+	1	1088	c.377C>G	c.(376-378)gCc>gGc	p.A126G		NM_152522.5	NP_689735.1	Q8N6S5	AR6P6_HUMAN	ADP-ribosylation-like factor 6 interacting protein 6	126						integral to membrane				kidney(1)|large_intestine(1)|lung(2)|pancreas(1)	5						TTCCTCCTCGCCATCGCCTAC	0.602													7	91					0	0	1	0	0	G	153575515	C	G	153575515	3	3	172	1	0	0	0	0	1	0	0	0	944	739	26	5	379	5	ARL6IP6	2	153575515	Missense_Mutation	SNP	C	TCGA-E1-A7YO-01A-11D-A34A-08	120097734	153575515	89623858	9	23816											
TTN	7273	broad.mit.edu	37	2	179456193	179456193	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YO-01A-11D-A34A-08	TCGA-E1-A7YO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f873874-9d78-4712-a6e6-c2c13e15016c	4093478e-c54d-4591-8b4a-61929343c9c5	g.chr2:179456193C>T	ENST00000589042.1	-	304	60483	c.60259G>A	c.(60259-60261)Ggt>Agt	p.G20087S	TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G11214S|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G18446S|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G11147S|TTN_ENST00000460472.2_Missense_Mutation_p.G11022S|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G17519S	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	18446	Fibronectin type-III 45.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACCACAAGACCTTCAATTAAT	0.378													69	107					0	0	1	0	0	T	179456193	C	T	179456193	3	4	172	1	0	0	0	0	1	0	0	0	16797	681	24	2	47956	2	TTN	2	179456193	Missense_Mutation	SNP	C	TCGA-E1-A7YO-01A-11D-A34A-08	25880678	179456193	63743180	10	23817											
ANKAR	150709	broad.mit.edu	37	2	190554618	190554618	+	Missense_Mutation	SNP	A	A	T			TCGA-E1-A7YO-01A-11D-A34A-08	TCGA-E1-A7YO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f873874-9d78-4712-a6e6-c2c13e15016c	4093478e-c54d-4591-8b4a-61929343c9c5	g.chr2:190554618A>T	ENST00000520309.1	+	3	1055	c.967A>T	c.(967-969)Att>Ttt	p.I323F	ANKAR_ENST00000438402.2_Missense_Mutation_p.I323F|ANKAR_ENST00000281412.6_Missense_Mutation_p.I87F|ANKAR_ENST00000313581.4_Missense_Mutation_p.I323F|ANKAR_ENST00000461516.1_3'UTR|ANKAR_ENST00000431575.2_Missense_Mutation_p.I252F	NM_144708.3	NP_653309.3	Q7Z5J8	ANKAR_HUMAN	ankyrin and armadillo repeat containing	323						integral to membrane	binding			breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)			ATGTTTTCTGATTCCATTTCT	0.284													20	73					0	0	1	0	0	T	190554618	A	T	190554618	3	4	172	1	0	0	0	0	1	0	0	0	619	333	12	4	973	4	ANKAR	2	190554618	Missense_Mutation	SNP	A	TCGA-E1-A7YO-01A-11D-A34A-08	11098425	190554618	52644755	11	23818											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-E1-A7YO-01A-11D-A34A-08	TCGA-E1-A7YO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f873874-9d78-4712-a6e6-c2c13e15016c	4093478e-c54d-4591-8b4a-61929343c9c5	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	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								37	46					0	0	1	0	0	T	209113112	C	T	209113112	3	4	172	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-E1-A7YO-01A-11D-A34A-08	18558494	209113112	34086261	12	23819											
D2HGDH	728294	broad.mit.edu	37	2	242684241	242684241	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YO-01A-11D-A34A-08	TCGA-E1-A7YO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f873874-9d78-4712-a6e6-c2c13e15016c	4093478e-c54d-4591-8b4a-61929343c9c5	g.chr2:242684241G>A	ENST00000321264.4	+	6	1011	c.802G>A	c.(802-804)Gtg>Atg	p.V268M	D2HGDH_ENST00000342518.6_Missense_Mutation_p.V268M|D2HGDH_ENST00000403782.1_Missense_Mutation_p.V134M|D2HGDH_ENST00000537090.1_Missense_Mutation_p.V268M	NM_152783.3	NP_689996.4	Q8N465	D2HDH_HUMAN	D-2-hydroxyglutarate dehydrogenase	268	FAD-binding PCMH-type.				2-oxoglutarate metabolic process|cellular protein metabolic process|response to cobalt ion|response to manganese ion|response to zinc ion	mitochondrial matrix	(R)-2-hydroxyglutarate dehydrogenase activity|flavin adenine dinucleotide binding|protein binding			breast(1)|endometrium(3)|lung(10)|skin(1)|urinary_tract(1)	16		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833)		CATCACCACGGTGTCCATCTT	0.597													27	24					0	0	1	0	0	A	242684241	G	A	242684241	3	1	172	1	0	0	0	0	1	0	0	0	4237	1261	44	2	820	2	D2HGDH	2	242684241	Missense_Mutation	SNP	G	TCGA-E1-A7YO-01A-11D-A34A-08	33571129	242684241	515132	13	23820											
NEK10	152110	broad.mit.edu	37	3	27204221	27204221	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YO-01A-11D-A34A-08	TCGA-E1-A7YO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f873874-9d78-4712-a6e6-c2c13e15016c	4093478e-c54d-4591-8b4a-61929343c9c5	g.chr3:27204221G>A	ENST00000429845.2	-	31	3202	c.2840C>T	c.(2839-2841)aCt>aTt	p.T947I	NEK10_ENST00000498182.1_5'UTR|NEK10_ENST00000383770.3_Missense_Mutation_p.T259I|NEK10_ENST00000357467.2_Missense_Mutation_p.T344I|NEK10_ENST00000383771.4_Missense_Mutation_p.T259I|NEK10_ENST00000295720.6_Missense_Mutation_p.T259I			Q6ZWH5	NEK10_HUMAN	NIMA-related kinase 10	947							ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						TGTTCCTCCAGTGAAGTCCCT	0.353													10	43					0	0	1	0	0	A	27204221	G	A	27204221	3	1	172	1	0	0	0	0	1	0	0	0	10369	1044	36	2		2	NEK10	3	27204221	Missense_Mutation	SNP	G	TCGA-E1-A7YO-01A-11D-A34A-08		27204221	170818209	14	23821											
ZNF131	7690	broad.mit.edu	37	5	43161369	43161369	+	Silent	SNP	T	T	C			TCGA-E1-A7YO-01A-11D-A34A-08	TCGA-E1-A7YO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f873874-9d78-4712-a6e6-c2c13e15016c	4093478e-c54d-4591-8b4a-61929343c9c5	g.chr5:43161369T>C	ENST00000509634.1	+	4	846	c.390T>C	c.(388-390)gcT>gcC	p.A130A	ZNF131_ENST00000509156.1_Silent_p.A130A|ZNF131_ENST00000306938.4_Silent_p.A130A|ZNF131_ENST00000399534.1_Silent_p.A130A|ZNF131_ENST00000509931.1_Intron|ZNF131_ENST00000505606.2_Silent_p.A130A			P52739	ZN131_HUMAN	zinc finger protein 131	130						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	17						AAAACTCAGCTCCCTTAGAGG	0.358													30	39					0	0	1	0	0	C	43161369	T	C	43161369	2	2	172	1	0	0	0	0	0	0	0	1	17779	1538	54	3		3	ZNF131	5	43161369	Silent	SNP	T	TCGA-E1-A7YO-01A-11D-A34A-08		43161369	137753891	15	23822											
RREB1	6239	broad.mit.edu	37	6	7229727	7229727	+	Silent	SNP	C	C	T	rs138539147		TCGA-E1-A7YO-01A-11D-A34A-08	TCGA-E1-A7YO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f873874-9d78-4712-a6e6-c2c13e15016c	4093478e-c54d-4591-8b4a-61929343c9c5	g.chr6:7229727C>T	ENST00000379938.2	+	10	1932	c.1395C>T	c.(1393-1395)atC>atT	p.I465I	RREB1_ENST00000349384.6_Silent_p.I465I|RREB1_ENST00000379933.3_Silent_p.I465I|RREB1_ENST00000334984.6_Silent_p.I465I	NM_001003699.3|NM_001003700.1	NP_001003699.1|NP_001003700.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	465					multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				AGTCGGCCATCGAGCTGGCAG	0.602													26	124					0	0	1	0	0	T	7229727	C	T	7229727	2	4	172	1	0	0	0	0	0	0	0	1	13731	874	31	1		1	RREB1	6	7229727	Silent	SNP	C	TCGA-E1-A7YO-01A-11D-A34A-08		7229727	163885340	16	23823											
TRPV5	56302	broad.mit.edu	37	7	142626594	142626594	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YO-01A-11D-A34A-08	TCGA-E1-A7YO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f873874-9d78-4712-a6e6-c2c13e15016c	4093478e-c54d-4591-8b4a-61929343c9c5	g.chr7:142626594C>T	ENST00000265310.1	-	4	764	c.416G>A	c.(415-417)cGc>cAc	p.R139H	TRPV5_ENST00000442623.1_Missense_Mutation_p.R139H	NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	139					protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					ACTGGCCCTGCGGGTGAGCAG	0.602													4	68					0	0	1	0	0	T	142626594	C	T	142626594	3	4	172	1	0	0	0	0	1	0	0	0	16660	768	27	1	1821	1	TRPV5	7	142626594	Missense_Mutation	SNP	C	TCGA-E1-A7YO-01A-11D-A34A-08		142626594	16512069	17	23824											
INSL4	3641	broad.mit.edu	37	9	5231539	5231539	+	Missense_Mutation	SNP	C	C	T	rs142741438	byFrequency	TCGA-E1-A7YO-01A-11D-A34A-08	TCGA-E1-A7YO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f873874-9d78-4712-a6e6-c2c13e15016c	4093478e-c54d-4591-8b4a-61929343c9c5	g.chr9:5231539C>T	ENST00000239316.4	+	1	121	c.16C>T	c.(16-18)Cgg>Tgg	p.R6W		NM_002195.1	NP_002186.1	Q14641	INSL4_HUMAN	insulin-like 4 (placenta)	6					cell proliferation|cell-cell signaling|female pregnancy|multicellular organismal development|signal transduction	extracellular space|soluble fraction	hormone activity|insulin-like growth factor receptor binding			endometrium(2)|lung(2)|skin(1)|urinary_tract(1)	6	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0201)|Lung(218;0.14)		CAGCCTGTTCCGGTCCTATCT	0.542													9	25					0	0	1	0	0	T	5231539	C	T	5231539	3	4	172	1	0	0	0	0	1	0	0	0	7812	643	23	1	18	1	INSL4	9	5231539	Missense_Mutation	SNP	C	TCGA-E1-A7YO-01A-11D-A34A-08		5231539	135981892	18	23825											
APBA1	320	broad.mit.edu	37	9	72131193	72131193	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YO-01A-11D-A34A-08	TCGA-E1-A7YO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f873874-9d78-4712-a6e6-c2c13e15016c	4093478e-c54d-4591-8b4a-61929343c9c5	g.chr9:72131193C>T	ENST00000265381.4	-	2	1156	c.934G>A	c.(934-936)Gac>Aac	p.D312N		NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 1	312	Munc-18-1 binding.|Pro-rich.				axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle				endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						ccggggctgtcggggcgaccc	0.766													3	11					0	0	1	0	0	T	72131193	C	T	72131193	3	4	172	1	0	0	0	0	1	0	0	0	752	884	31	1	1627	1	APBA1	9	72131193	Missense_Mutation	SNP	C	TCGA-E1-A7YO-01A-11D-A34A-08	66899654	72131193	69082238	19	23826											
C9orf114	51490	broad.mit.edu	37	9	131588889	131588889	+	Missense_Mutation	SNP	T	T	G			TCGA-E1-A7YO-01A-11D-A34A-08	TCGA-E1-A7YO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f873874-9d78-4712-a6e6-c2c13e15016c	4093478e-c54d-4591-8b4a-61929343c9c5	g.chr9:131588889T>G	ENST00000361256.5	-	5	428	c.388A>C	c.(388-390)Aca>Cca	p.T130P		NM_016390.3	NP_057474.2	Q5T280	CI114_HUMAN	chromosome 9 open reading frame 114	130			T -> R (in dbSNP:rs6478854).							kidney(2)|large_intestine(4)|ovary(1)	7						CCAACTCCTGTGAATTCCCCC	0.592													5	21					0	0	1	0	0	G	131588889	T	G	131588889	3	3	172	1	0	0	0	0	1	0	0	0	2467	1696	59	5	774	5	C9orf114	9	131588889	Missense_Mutation	SNP	T	TCGA-E1-A7YO-01A-11D-A34A-08	59457696	131588889	9624542	20	23827											
C10orf54	64115	broad.mit.edu	37	10	73521533	73521533	+	Silent	SNP	G	G	A			TCGA-E1-A7YO-01A-11D-A34A-08	TCGA-E1-A7YO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f873874-9d78-4712-a6e6-c2c13e15016c	4093478e-c54d-4591-8b4a-61929343c9c5	g.chr10:73521533G>A	ENST00000394957.3	-	2	391	c.333C>T	c.(331-333)caC>caT	p.H111H	C10orf54_ENST00000481568.2_5'UTR|CDH23_ENST00000224721.6_Intron	NM_022153.1	NP_071436.1	Q9H7M9	GI24_HUMAN	chromosome 10 open reading frame 54	111	Ig-like.					integral to membrane	receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	9						GAGCCAGGTCGTGGCTGGTGT	0.652													24	21					0	0	1	0	0	A	73521533	G	A	73521533	2	1	172	1	0	0	0	0	0	0	0	1	1611	1136	40	1		1	C10orf54	10	73521533	Silent	SNP	G	TCGA-E1-A7YO-01A-11D-A34A-08		73521533	62013214	21	23828											
PNLIPRP2	5408	broad.mit.edu	37	10	118387360	118387360	+	RNA	DEL	G	G	-			TCGA-E1-A7YO-01A-11D-A34A-08	TCGA-E1-A7YO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f873874-9d78-4712-a6e6-c2c13e15016c	4093478e-c54d-4591-8b4a-61929343c9c5	g.chr10:118387360delG	ENST00000537242.1	+	0	578				PNLIPRP2_ENST00000298771.7_RNA|PNLIPRP2_ENST00000433618.4_RNA	NM_005396.4	NP_005387.2	P54317	LIPR2_HUMAN	pancreatic lipase-related protein 2						galactolipid catabolic process|lipid digestion|phospholipid catabolic process|triglyceride metabolic process	extracellular space	acylglycerol lipase activity|calcium ion binding|galactolipase activity|phospholipase activity|triglyceride lipase activity			endometrium(1)|large_intestine(1)|lung(11)|prostate(3)	16				all cancers(201;0.015)		GCAGGAGGCTGGGGGGCCGCG	0.736													2	4	---	---	---	---						-	118387360	G	-	118387360	6	5	172	0	1	1	0	1	0	0	0	0	12199	1335	47	0		0	PNLIPRP2	10	118387360	RNA	DEL	G	TCGA-E1-A7YO-01A-11D-A34A-08	44865827	118387360	17147387	22	23829											
MMP12	4321	broad.mit.edu	37	11	102745470	102745473	+	RNA	DEL	CAAA	CAAA	-	rs28360358		TCGA-E1-A7YO-01A-11D-A34A-08	TCGA-E1-A7YO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f873874-9d78-4712-a6e6-c2c13e15016c	4093478e-c54d-4591-8b4a-61929343c9c5	g.chr11:102745470_102745473delCAAA	ENST00000532855.1	-	0	199							P39900	MMP12_HUMAN	matrix metallopeptidase 12 (macrophage elastase)						positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.014)	Acetohydroxamic Acid(DB00551)	TACGTAAaagcaaacaaacaaaca	0.324													3	3	---	---	---	---						-	102745473	CAAA	-	102745470	6	5	172	0	1	1	0	1	0	0	0	0	9699	725	25	0		0	MMP12	11	102745470	RNA	DEL	CAAA	TCGA-E1-A7YO-01A-11D-A34A-08		102745470	32261046	23	23830											
TMEM45B	120224	broad.mit.edu	37	11	129725675	129725675	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YO-01A-11D-A34A-08	TCGA-E1-A7YO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f873874-9d78-4712-a6e6-c2c13e15016c	4093478e-c54d-4591-8b4a-61929343c9c5	g.chr11:129725675C>T	ENST00000281441.3	+	4	546	c.458C>T	c.(457-459)gCt>gTt	p.A153V	TMEM45B_ENST00000524567.1_Missense_Mutation_p.A153V	NM_138788.3	NP_620143.1	Q96B21	TM45B_HUMAN	transmembrane protein 45B	153						integral to membrane				endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|stomach(1)	12	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.012)|Lung(977;0.179)|LUSC - Lung squamous cell carcinoma(976;0.189)		CTGCTGTATGCTCTGTTCGGA	0.537													60	65					0	0	1	0	0	T	129725675	C	T	129725675	3	4	172	1	0	0	0	0	1	0	0	0	16230	797	28	2	468	2	TMEM45B	11	129725675	Missense_Mutation	SNP	C	TCGA-E1-A7YO-01A-11D-A34A-08	26980205	129725675	5280841	24	23831											
ZCRB1	85437	broad.mit.edu	37	12	42711593	42711593	+	Missense_Mutation	SNP	T	T	G			TCGA-E1-A7YO-01A-11D-A34A-08	TCGA-E1-A7YO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f873874-9d78-4712-a6e6-c2c13e15016c	4093478e-c54d-4591-8b4a-61929343c9c5	g.chr12:42711593T>G	ENST00000266529.3	-	4	404	c.221A>C	c.(220-222)aAa>aCa	p.K74T	PPHLN1_ENST00000549190.1_Intron|ZCRB1_ENST00000552673.1_Missense_Mutation_p.K33T	NM_033114.3	NP_149105.3	Q8TBF4	ZCRB1_HUMAN	zinc finger CCHC-type and RNA binding motif 1	74	RRM.				mRNA processing	nucleoplasm|U12-type spliceosomal complex	nucleotide binding|RNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|skin(2)	8	all_cancers(12;0.000348)|Breast(8;0.221)	Lung NSC(34;0.123)		GBM - Glioblastoma multiforme(48;0.0689)		GCTTACCTGTTTGTTGTTTAT	0.388													4	73					0	0	1	0	0	G	42711593	T	G	42711593	3	3	172	1	0	0	0	0	1	0	0	0	17654	1841	64	5	452	5	ZCRB1	12	42711593	Missense_Mutation	SNP	T	TCGA-E1-A7YO-01A-11D-A34A-08		42711593	91140302	25	23832											
SLC38A1	81539	broad.mit.edu	37	12	46602870	46602870	+	Missense_Mutation	SNP	T	T	C			TCGA-E1-A7YO-01A-11D-A34A-08	TCGA-E1-A7YO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f873874-9d78-4712-a6e6-c2c13e15016c	4093478e-c54d-4591-8b4a-61929343c9c5	g.chr12:46602870T>C	ENST00000398637.5	-	6	1049	c.355A>G	c.(355-357)Ata>Gta	p.I119V	SLC38A1_ENST00000549049.1_Missense_Mutation_p.I119V|SLC38A1_ENST00000439706.1_Missense_Mutation_p.I119V|SLC38A1_ENST00000552197.1_Missense_Mutation_p.I119V|SLC38A1_ENST00000546893.1_Missense_Mutation_p.I119V|SLC38A1_ENST00000549633.1_5'UTR	NM_001077484.1|NM_001278387.1|NM_001278388.1|NM_001278389.1|NM_030674.3	NP_001070952.1|NP_001265316.1|NP_001265317.1|NP_001265318.1|NP_109599.3	Q9H2H9	S38A1_HUMAN	solute carrier family 38, member 1	119					cellular nitrogen compound metabolic process|neurotransmitter uptake	integral to membrane|plasma membrane	sodium:amino acid symporter activity			NS(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(2)	23	Lung SC(27;0.137)|Renal(347;0.236)		all cancers(1;0.00805)|OV - Ovarian serous cystadenocarcinoma(5;0.0106)|Epithelial(2;0.0344)			AGGAGGTTTATTGAATATATA	0.313													11	62					0	0	1	0	0	C	46602870	T	C	46602870	3	2	172	1	0	0	0	0	1	0	0	0	14656	1493	52	3	1156	3	SLC38A1	12	46602870	Missense_Mutation	SNP	T	TCGA-E1-A7YO-01A-11D-A34A-08	3891277	46602870	87249025	26	23833											
AVPR1A	552	broad.mit.edu	37	12	63543965	63543965	+	Missense_Mutation	SNP	T	T	C			TCGA-E1-A7YO-01A-11D-A34A-08	TCGA-E1-A7YO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f873874-9d78-4712-a6e6-c2c13e15016c	4093478e-c54d-4591-8b4a-61929343c9c5	g.chr12:63543965T>C	ENST00000299178.2	-	1	757	c.652A>G	c.(652-654)Acc>Gcc	p.T218A		NM_000706.4	NP_000697.1	P37288	V1AR_HUMAN	arginine vasopressin receptor 1A	218					activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|generation of precursor metabolites and energy	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|prostate(2)|skin(1)	26			BRCA - Breast invasive adenocarcinoma(9;0.193)	GBM - Glioblastoma multiforme(28;0.0569)	Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Vasopressin(DB00067)	GTCATCCAGGTCACGTAGGCA	0.592													56	95					0	0	1	0	0	C	63543965	T	C	63543965	3	2	172	1	0	0	0	0	1	0	0	0	1229	1667	58	3	612	3	AVPR1A	12	63543965	Missense_Mutation	SNP	T	TCGA-E1-A7YO-01A-11D-A34A-08	16941095	63543965	70307930	27	23834											
PRMT5	10419	broad.mit.edu	37	14	23393534	23393534	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YO-01A-11D-A34A-08	TCGA-E1-A7YO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f873874-9d78-4712-a6e6-c2c13e15016c	4093478e-c54d-4591-8b4a-61929343c9c5	g.chr14:23393534C>T	ENST00000324366.8	-	11	1367	c.1144G>A	c.(1144-1146)Gcc>Acc	p.A382T	PRMT5_ENST00000397441.2_Missense_Mutation_p.A365T|PRMT5-AS1_ENST00000595662.1_RNA|PRMT5-AS1_ENST00000587245.2_RNA|PRMT5_ENST00000216350.8_Missense_Mutation_p.A321T|PRMT5-AS1_ENST00000599580.2_RNA|PRMT5-AS1_ENST00000590290.1_RNA|PRMT5_ENST00000538452.1_Missense_Mutation_p.A276T|PRMT5_ENST00000553897.1_Missense_Mutation_p.A338T|PRMT5_ENST00000397440.4_Missense_Mutation_p.A211T	NM_006109.3	NP_006100.2	O14744	ANM5_HUMAN	protein arginine methyltransferase 5	382					cell proliferation|histone H4-R3 methylation|ncRNA metabolic process|regulation of mitosis|spliceosomal snRNP assembly|transcription, DNA-dependent	cytosol|nucleus	histone-arginine N-methyltransferase activity|protein binding|protein-arginine omega-N symmetric methyltransferase activity|ribonucleoprotein binding			endometrium(4)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	25	all_cancers(95;2.76e-05)			GBM - Glioblastoma multiforme(265;0.0126)		CGCCGGTCGGCCTGCTTGGCT	0.557													25	82					0	0	1	0	0	T	23393534	C	T	23393534	3	4	172	1	0	0	0	0	1	0	0	0	12591	739	26	2	797	2	PRMT5	14	23393534	Missense_Mutation	SNP	C	TCGA-E1-A7YO-01A-11D-A34A-08		23393534	83956006	28	23835											
NKX2-1	7080	broad.mit.edu	37	14	36987036	36987036	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YO-01A-11D-A34A-08	TCGA-E1-A7YO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f873874-9d78-4712-a6e6-c2c13e15016c	4093478e-c54d-4591-8b4a-61929343c9c5	g.chr14:36987036G>A	ENST00000518149.1	-	3	1168	c.563C>T	c.(562-564)gCg>gTg	p.A188V	NKX2-1_ENST00000498187.2_Missense_Mutation_p.A188V|NKX2-1_ENST00000522719.2_Missense_Mutation_p.A188V|RP11-896J10.3_ENST00000521945.1_RNA|NKX2-1_ENST00000354822.5_Missense_Mutation_p.A218V			P43699	NKX21_HUMAN	NK2 homeobox 1	188					epithelial tube branching involved in lung morphogenesis|globus pallidus development|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|thyroid gland development		protein binding|transcription regulatory region DNA binding			large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(2)	7	all_cancers(3;4.47e-51)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)|Breast(36;0.165)		Lung(8;1.8e-08)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.014)|all cancers(34;0.0366)|LUSC - Lung squamous cell carcinoma(13;0.132)	GBM - Glioblastoma multiforme(112;0.0171)		GCGCTCCGGCGCCGACAGGTA	0.647			A		NSCLC								5	19					0	0	1	0	0	A	36987036	G	A	36987036	3	1	172	1	0	0	0	0	1	0	0	0	10496	1087	38	1	556	1	NKX2-1	14	36987036	Missense_Mutation	SNP	G	TCGA-E1-A7YO-01A-11D-A34A-08	13593502	36987036	70362504	29	23836											
LTK	4058	broad.mit.edu	37	15	41801323	41801323	+	Silent	SNP	G	G	A			TCGA-E1-A7YO-01A-11D-A34A-08	TCGA-E1-A7YO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f873874-9d78-4712-a6e6-c2c13e15016c	4093478e-c54d-4591-8b4a-61929343c9c5	g.chr15:41801323G>A	ENST00000263800.6	-	8	1098	c.1002C>T	c.(1000-1002)ggC>ggT	p.G334G	LTK_ENST00000453182.2_Silent_p.G273G|LTK_ENST00000561619.1_Silent_p.G16G|LTK_ENST00000355166.5_Silent_p.G273G	NM_002344.5	NP_002335.2	P29376	LTK_HUMAN	leukocyte receptor tyrosine kinase	334					apoptosis|cell proliferation|phosphatidylinositol 3-kinase cascade|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(16)|skin(3)|urinary_tract(1)	26		all_cancers(109;1.89e-19)|all_epithelial(112;2.28e-16)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.172)		OV - Ovarian serous cystadenocarcinoma(18;2.1e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113)		CTGAAGCGTCGCCCCCTGGAA	0.557										TSP Lung(18;0.14)			8	27					0	0	1	0	0	A	41801323	G	A	41801323	2	1	172	1	0	0	0	0	0	0	0	1	9125	1074	38	1		1	LTK	15	41801323	Silent	SNP	G	TCGA-E1-A7YO-01A-11D-A34A-08		41801323	60730069	30	23837											
CYP11A1	1583	broad.mit.edu	37	15	74630911	74630911	+	Splice_Site	SNP	C	C	T			TCGA-E1-A7YO-01A-11D-A34A-08	TCGA-E1-A7YO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f873874-9d78-4712-a6e6-c2c13e15016c	4093478e-c54d-4591-8b4a-61929343c9c5	g.chr15:74630911C>T	ENST00000358632.4	-	8	1656		c.e8+1		CYP11A1_ENST00000268053.6_Splice_Site|CYP11A1_ENST00000419019.2_Splice_Site	NM_001099773.1	NP_001093243.1	P05108	CP11A_HUMAN	cytochrome P450, family 11, subfamily A, polypeptide 1						C21-steroid hormone biosynthetic process|cholesterol metabolic process|vitamin D metabolic process|xenobiotic metabolic process	mitochondrial matrix	cholesterol monooxygenase (side-chain-cleaving) activity|electron carrier activity|heme binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20					Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Clotrimazole(DB00257)|Digitoxin(DB01396)|Digoxin(DB00390)|Medroxyprogesterone(DB00603)|Ouabain(DB01092)|Progesterone(DB00396)|Testosterone(DB00624)|Trilostane(DB01108)	GCTTGACTCACATTGATGAGG	0.572													25	31					0	0	1	0	0	T	74630911	C	T	74630911	5	4	172	1	0	0	0	0	0	0	1	0	4167	492	17	2	138	2	CYP11A1	15	74630911	Splice_Site	SNP	C	TCGA-E1-A7YO-01A-11D-A34A-08	32829588	74630911	27900481	31	23838											
ATP2A1	487	broad.mit.edu	37	16	28900194	28900194	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YO-01A-11D-A34A-08	TCGA-E1-A7YO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f873874-9d78-4712-a6e6-c2c13e15016c	4093478e-c54d-4591-8b4a-61929343c9c5	g.chr16:28900194G>A	ENST00000395503.4	+	9	1199	c.1015G>A	c.(1015-1017)Gta>Ata	p.V339I	ATP2A1_ENST00000536376.1_Missense_Mutation_p.V214I|ATP2A1_ENST00000357084.3_Missense_Mutation_p.V339I	NM_004320.4	NP_004311.1	O14983	AT2A1_HUMAN	ATPase, Ca++ transporting, cardiac muscle, fast twitch 1	339					apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|ATP biosynthetic process|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress	endoplasmic reticulum membrane|ER-Golgi intermediate compartment|H zone|I band|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	38						CTTGCCCTCCGTAGAGACCCT	0.587													5	172					0	0	1	0	0	A	28900194	G	A	28900194	3	1	172	1	0	0	0	0	1	0	0	0	1135	1145	40	1	1049	1	ATP2A1	16	28900194	Missense_Mutation	SNP	G	TCGA-E1-A7YO-01A-11D-A34A-08		28900194	61454559	32	23839											
LRRC37A3	374819	broad.mit.edu	37	17	62892257	62892257	+	Silent	SNP	G	G	A			TCGA-E1-A7YO-01A-11D-A34A-08	TCGA-E1-A7YO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f873874-9d78-4712-a6e6-c2c13e15016c	4093478e-c54d-4591-8b4a-61929343c9c5	g.chr17:62892257G>A	ENST00000584306.1	-	3	1649	c.1119C>T	c.(1117-1119)gtC>gtT	p.V373V	RP11-927P21.1_ENST00000584959.1_RNA|LRRC37A3_ENST00000400877.3_Intron|RP11-927P21.1_ENST00000577938.1_RNA|LRRC37A3_ENST00000339474.5_Intron|RP11-927P21.1_ENST00000584131.1_RNA|LRRC37A3_ENST00000319651.5_Silent_p.V373V	NM_199340.2	NP_955372.2	O60309	L37A3_HUMAN	leucine rich repeat containing 37, member A3	373						integral to membrane				NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|liver(1)|lung(10)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						GAGAAGATTCGACCTCCCTAG	0.522													8	262					0	0	1	0	0	A	62892257	G	A	62892257	2	1	172	1	0	0	0	0	0	0	0	1	9038	1045	37	1		1	LRRC37A3	17	62892257	Silent	SNP	G	TCGA-E1-A7YO-01A-11D-A34A-08		62892257	18302953	33	23840											
ABCA7	10347	broad.mit.edu	37	19	1049302	1049302	+	Silent	SNP	C	C	T			TCGA-E1-A7YO-01A-11D-A34A-08	TCGA-E1-A7YO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f873874-9d78-4712-a6e6-c2c13e15016c	4093478e-c54d-4591-8b4a-61929343c9c5	g.chr19:1049302C>T	ENST00000263094.6	+	18	2649	c.2418C>T	c.(2416-2418)ggC>ggT	p.G806G	ABCA7_ENST00000433129.1_Silent_p.G806G|ABCA7_ENST00000435683.2_Silent_p.G668G	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	806					phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity			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)		TGAGTCCTGGCGTCTCCGTTC	0.667													44	75					0	0	1	0	0	T	1049302	C	T	1049302	2	4	172	1	0	0	0	0	0	0	0	1	37	755	27	1		1	ABCA7	19	1049302	Silent	SNP	C	TCGA-E1-A7YO-01A-11D-A34A-08		1049302	58079681	34	23841											
DOCK6	57572	broad.mit.edu	37	19	11311002	11311002	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YO-01A-11D-A34A-08	TCGA-E1-A7YO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f873874-9d78-4712-a6e6-c2c13e15016c	4093478e-c54d-4591-8b4a-61929343c9c5	g.chr19:11311002G>A	ENST00000294618.7	-	47	6094	c.6083C>T	c.(6082-6084)cCc>cTc	p.P2028L	DOCK6_ENST00000319867.7_Missense_Mutation_p.P1367L|DOCK6_ENST00000586702.1_5'UTR	NM_020812.3	NP_065863.2	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	2028					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						GGGTGGGGTGGGTGCCATCAG	0.652													2	3					0	0	1	0	0	A	11311002	G	A	11311002	3	1	172	1	0	0	0	0	1	0	0	0	4718	1232	43	2	68	2	DOCK6	19	11311002	Missense_Mutation	SNP	G	TCGA-E1-A7YO-01A-11D-A34A-08	10261700	11311002	47817981	35	23842											
DNASE2	1777	broad.mit.edu	37	19	12991928	12991928	+	Missense_Mutation	SNP	C	C	G			TCGA-E1-A7YO-01A-11D-A34A-08	TCGA-E1-A7YO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f873874-9d78-4712-a6e6-c2c13e15016c	4093478e-c54d-4591-8b4a-61929343c9c5	g.chr19:12991928C>G	ENST00000222219.3	-	2	217	c.125G>C	c.(124-126)gGg>gCg	p.G42A	CTD-2265O21.7_ENST00000592400.1_RNA|DNASE2_ENST00000538460.1_Missense_Mutation_p.G42A	NM_001375.2	NP_001366.1	O00115	DNS2A_HUMAN	deoxyribonuclease II, lysosomal	42					apoptosis	lysosome	deoxyribonuclease II activity|DNA binding|protein binding			breast(1)|large_intestine(1)|lung(4)|ovary(1)	7						CGCCGCCTCCCCGGACCCTCT	0.637													7	60					0	0	1	0	0	G	12991928	C	G	12991928	3	3	172	1	0	0	0	0	1	0	0	0	4691	623	22	5	977	5	DNASE2	19	12991928	Missense_Mutation	SNP	C	TCGA-E1-A7YO-01A-11D-A34A-08	1680926	12991928	46137055	36	23843											
CIC	23152	broad.mit.edu	37	19	42794819	42794820	+	Frame_Shift_Ins	INS	-	-	C			TCGA-E1-A7YO-01A-11D-A34A-08	TCGA-E1-A7YO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f873874-9d78-4712-a6e6-c2c13e15016c	4093478e-c54d-4591-8b4a-61929343c9c5	g.chr19:42794819_42794820insC	ENST00000572681.2	+	11	4694_4695	c.4626_4627insC	c.(4627-4629)cccfs	p.P1543fs	CIC_ENST00000575354.2_Frame_Shift_Ins_p.P634fs|CIC_ENST00000160740.3_Frame_Shift_Ins_p.P634fs			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	634	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CACTGGTGCTGCCCCCAAACAA	0.688			"Mis, F, S"		oligodendroglioma								10	31	---	---	---	---						C	42794820	-	C	42794819	7	5	172	1	0	1	1	0	0	0	0	0	3446	1306	46	0	1937	0	CIC	19	42794819	Frame_Shift_Ins	INS	-	TCGA-E1-A7YO-01A-11D-A34A-08	29802891	42794819	16334164	37	23844											
PSG9	5678	broad.mit.edu	37	19	43763054	43763054	+	Nonsense_Mutation	SNP	G	G	A			TCGA-E1-A7YO-01A-11D-A34A-08	TCGA-E1-A7YO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f873874-9d78-4712-a6e6-c2c13e15016c	4093478e-c54d-4591-8b4a-61929343c9c5	g.chr19:43763054G>A	ENST00000418820.2	-	3	762	c.664C>T	c.(664-666)Cga>Tga	p.R222*	PSG9_ENST00000270077.3_Nonsense_Mutation_p.R315*|PSG9_ENST00000593948.1_Intron|PSG9_ENST00000244293.7_Intron|PSG9_ENST00000443718.3_Nonsense_Mutation_p.R222*|PSG9_ENST00000291752.5_Intron|PSG9_ENST00000596730.1_Intron			Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 9	222	Ig-like C2-type 1.				female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Prostate(69;0.00682)				CCACCATATCGGTCCCGTATT	0.498													16	34					0	0	1	0	0	A	43763054	G	A	43763054	4	1	172	1	0	0	0	0	0	1	0	0	12711	1124	39	1	349	1	PSG9	19	43763054	Nonsense_Mutation	SNP	G	TCGA-E1-A7YO-01A-11D-A34A-08	968235	43763054	15365929	38	23845											
ARHGAP35	2909	broad.mit.edu	37	19	47422168	47422168	+	Missense_Mutation	SNP	T	T	G			TCGA-E1-A7YO-01A-11D-A34A-08	TCGA-E1-A7YO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f873874-9d78-4712-a6e6-c2c13e15016c	4093478e-c54d-4591-8b4a-61929343c9c5	g.chr19:47422168T>G	ENST00000404338.3	+	1	236	c.236T>G	c.(235-237)gTt>gGt	p.V79G		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	79					axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity										TGGGGAGAAGTTAGCCGCTCC	0.493													6	49					0	0	1	0	0	G	47422168	T	G	47422168	3	3	172	1	0	0	0	0	1	0	0	0	6836	1725	60	5	238	5	ARHGAP35	19	47422168	Missense_Mutation	SNP	T	TCGA-E1-A7YO-01A-11D-A34A-08	3659114	47422168	11706815	39	23846											
APOBEC3B	9582	broad.mit.edu	37	22	39382395	39382395	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YO-01A-11D-A34A-08	TCGA-E1-A7YO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f873874-9d78-4712-a6e6-c2c13e15016c	4093478e-c54d-4591-8b4a-61929343c9c5	g.chr22:39382395C>T	ENST00000402182.3	+	4	602	c.547C>T	c.(547-549)Cgc>Tgc	p.R183C	APOBEC3B_ENST00000407298.3_Missense_Mutation_p.R183C|APOBEC3B_ENST00000333467.3_Missense_Mutation_p.R183C			Q9UH17	ABC3B_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3B	183					negative regulation of transposition		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|RNA binding|zinc ion binding			cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	13	Melanoma(58;0.04)					ATTCCTGCACCGCACGCTAAA	0.498													23	119					0	0	1	0	0	T	39382395	C	T	39382395	3	4	172	1	0	0	0	0	1	0	0	0	787	652	23	1	561	1	APOBEC3B	22	39382395	Missense_Mutation	SNP	C	TCGA-E1-A7YO-01A-11D-A34A-08		39382395	11922171	40	23847											
SMC1A	8243	broad.mit.edu	37	X	53432803	53432803	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YO-01A-11D-A34A-08	TCGA-E1-A7YO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f873874-9d78-4712-a6e6-c2c13e15016c	4093478e-c54d-4591-8b4a-61929343c9c5	g.chrX:53432803G>A	ENST00000322213.4	-	10	1758	c.1631C>T	c.(1630-1632)gCc>gTc	p.A544V	SMC1A_ENST00000375340.6_Missense_Mutation_p.A310V	NM_006306.2	NP_006297.2	Q14683	SMC1A_HUMAN	structural maintenance of chromosomes 1A	544	Flexible hinge.				cell cycle checkpoint|cell division|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic sister chromatid cohesion|mitotic spindle organization|negative regulation of DNA endoreduplication|nuclear mRNA splicing, via spliceosome|response to radiation|signal transduction in response to DNA damage	cohesin core heterodimer|condensed chromosome kinetochore|condensed nuclear chromosome|cytoplasm|meiotic cohesin complex|nucleoplasm	ATP binding|chromatin binding|microtubule motor activity|protein heterodimerization activity			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(8)|ovary(5)|upper_aerodigestive_tract(2)	49						CACAATAATGGCATCCATGTT	0.502													22	6					0	0	1	0	0	A	53432803	G	A	53432803	3	1	172	1	0	0	0	0	1	0	0	0	14835	1203	42	2	2134	2	SMC1A	23	53432803	Missense_Mutation	SNP	G	TCGA-E1-A7YO-01A-11D-A34A-08		53432803	101837757	41	23848											
ATP1B4	23439	broad.mit.edu	37	X	119496054	119496054	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YO-01A-11D-A34A-08	TCGA-E1-A7YO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f873874-9d78-4712-a6e6-c2c13e15016c	4093478e-c54d-4591-8b4a-61929343c9c5	g.chrX:119496054C>T	ENST00000218008.3	+	1	88	c.31C>T	c.(31-33)Cca>Tca	p.P11S	ATP1B4_ENST00000539306.1_Missense_Mutation_p.P11S|ATP1B4_ENST00000361319.3_Missense_Mutation_p.P11S	NM_001142447.2	NP_001135919.1	Q9UN42	AT1B4_HUMAN	ATPase, Na+/K+ transporting, beta 4 polypeptide	11					ATP biosynthetic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to plasma membrane|nuclear inner membrane	sodium:potassium-exchanging ATPase activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	33						CAGAAGGGCTCCATCCTTTCC	0.542													5	111					0	0	1	0	0	T	119496054	C	T	119496054	3	4	172	1	0	0	0	0	1	0	0	0	1134	855	30	2	33	2	ATP1B4	23	119496054	Missense_Mutation	SNP	C	TCGA-E1-A7YO-01A-11D-A34A-08	66063251	119496054	35774506	42	23849											
COL16A1	1307	broad.mit.edu	37	1	32157245	32157245	+	Splice_Site	SNP	T	T	G			TCGA-E1-A7YQ-01A-11D-A34J-08	TCGA-E1-A7YQ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a958293-774d-4cb9-ba11-59ac163cfd03	df861df9-ee5c-4f51-8f5b-cefb65965693	g.chr1:32157245T>G	ENST00000373672.3	-	18	1774		c.e18-2		COL16A1_ENST00000373668.3_Splice_Site|COL16A1_ENST00000271069.6_Splice_Site	NM_001856.3	NP_001847.3	Q07092	COGA1_HUMAN	collagen, type XVI, alpha 1						cell adhesion|female pregnancy|integrin-mediated signaling pathway	collagen type XVI	integrin binding|structural molecule activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		TGGCCGGCCCTGTGGGGGGAT	0.652													5	40					0	0	1	0	0	G	32157245	T	G	32157245	5	3	173	1	0	0	0	0	0	0	1	0	3696	1594	55	5	3774	5	COL16A1	1	32157245	Splice_Site	SNP	T	TCGA-E1-A7YQ-01A-11D-A34J-08		32157245	217093376	1	23850											
KIFAP3	22920	broad.mit.edu	37	1	169985738	169985738	+	Missense_Mutation	SNP	C	C	G			TCGA-E1-A7YQ-01A-11D-A34J-08	TCGA-E1-A7YQ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a958293-774d-4cb9-ba11-59ac163cfd03	df861df9-ee5c-4f51-8f5b-cefb65965693	g.chr1:169985738C>G	ENST00000367765.1	-	10	2429	c.928G>C	c.(928-930)Gtg>Ctg	p.V310L	KIFAP3_ENST00000361580.2_Missense_Mutation_p.V350L|KIFAP3_ENST00000367767.1_Missense_Mutation_p.V306L|KIFAP3_ENST00000538366.1_Missense_Mutation_p.V272L|KIFAP3_ENST00000540905.1_Missense_Mutation_p.V52L	NM_001204517.1	NP_001191446.1	Q92845	KIFA3_HUMAN	kinesin-associated protein 3	350					blood coagulation|plus-end-directed vesicle transport along microtubule|protein complex assembly|signal transduction	centrosome|condensed nuclear chromosome|cytosol|endoplasmic reticulum|kinesin II complex|spindle microtubule	kinesin binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|prostate(2)|skin(3)|urinary_tract(2)	35	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					ATCATTTTCACCAGTTTTTCA	0.328													7	106					0	0	1	0	0	G	169985738	C	G	169985738	3	3	173	1	0	0	0	0	1	0	0	0	8353	507	18	5	1374	5	KIFAP3	1	169985738	Missense_Mutation	SNP	C	TCGA-E1-A7YQ-01A-11D-A34J-08	137828493	169985738	79264883	2	23851											
C4BPA	722	broad.mit.edu	37	1	207297295	207297295	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YQ-01A-11D-A34J-08	TCGA-E1-A7YQ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a958293-774d-4cb9-ba11-59ac163cfd03	df861df9-ee5c-4f51-8f5b-cefb65965693	g.chr1:207297295C>T	ENST00000367070.3	+	5	651	c.457C>T	c.(457-459)Cgt>Tgt	p.R153C		NM_000715.3	NP_000706.1	P04003	C4BPA_HUMAN	complement component 4 binding protein, alpha	153	Sushi 2.				complement activation, classical pathway|innate immune response	extracellular region	protein binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(1)|urinary_tract(2)	28						AACCACTAGTCGTTGTGAAGT	0.363													4	39					0	0	1	0	0	T	207297295	C	T	207297295	3	4	173	1	0	0	0	0	1	0	0	0	2264	884	31	1	471	1	C4BPA	1	207297295	Missense_Mutation	SNP	C	TCGA-E1-A7YQ-01A-11D-A34J-08	37311557	207297295	41953326	3	23852											
KIF26B	55083	broad.mit.edu	37	1	245849237	245849237	+	Silent	SNP	C	C	T			TCGA-E1-A7YQ-01A-11D-A34J-08	TCGA-E1-A7YQ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a958293-774d-4cb9-ba11-59ac163cfd03	df861df9-ee5c-4f51-8f5b-cefb65965693	g.chr1:245849237C>T	ENST00000366518.4	+	9	1913	c.1809C>T	c.(1807-1809)tcC>tcT	p.S603S	KIF26B_ENST00000407071.2_Silent_p.S984S			Q2KJY2	KI26B_HUMAN	kinesin family member 26B	984	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	p.S984S(2)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			ATAATGGGTCCGAAGGTCAGC	0.622													5	30					0	0	1	0	0	T	245849237	C	T	245849237	2	4	173	1	0	0	0	0	0	0	0	1	8337	639	23	1		1	KIF26B	1	245849237	Silent	SNP	C	TCGA-E1-A7YQ-01A-11D-A34J-08	38551942	245849237	3401384	4	23853											
BUB1	699	broad.mit.edu	37	2	111415208	111415208	+	Missense_Mutation	SNP	A	A	T			TCGA-E1-A7YQ-01A-11D-A34J-08	TCGA-E1-A7YQ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a958293-774d-4cb9-ba11-59ac163cfd03	df861df9-ee5c-4f51-8f5b-cefb65965693	g.chr2:111415208A>T	ENST00000535254.1	-	13	1538	c.1471T>A	c.(1471-1473)Tct>Act	p.S491T	BUB1_ENST00000302759.6_Missense_Mutation_p.S511T|BUB1_ENST00000409311.1_Missense_Mutation_p.S511T	NM_001278616.1	NP_001265545.1	O43683	BUB1_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase	511					apoptosis|cell division|chromosome segregation|interspecies interaction between organisms|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|regulation of sister chromatid cohesion	condensed chromosome kinetochore|cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			breast(3)|endometrium(8)|kidney(4)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|stomach(1)	45		Ovarian(717;0.0822)		BRCA - Breast invasive adenocarcinoma(221;0.0556)		CAAGCCCCAGATGACCTTACA	0.303													8	34					0	0	1	0	0	T	111415208	A	T	111415208	3	4	173	1	0	0	0	0	1	0	0	0	1573	333	12	4	1774	4	BUB1	2	111415208	Missense_Mutation	SNP	A	TCGA-E1-A7YQ-01A-11D-A34J-08		111415208	131784165	5	23854											
SCN9A	6335	broad.mit.edu	37	2	167056037	167056037	+	Frame_Shift_Del	DEL	T	T	-			TCGA-E1-A7YQ-01A-11D-A34J-08	TCGA-E1-A7YQ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a958293-774d-4cb9-ba11-59ac163cfd03	df861df9-ee5c-4f51-8f5b-cefb65965693	g.chr2:167056037delT	ENST00000303354.6	-	27	5455	c.5115delA	c.(5113-5115)ctafs	p.L1705fs	SCN9A_ENST00000409435.1_Frame_Shift_Del_p.L1704fs|AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409672.1_Frame_Shift_Del_p.L1693fs|SCN9A_ENST00000375387.4_Frame_Shift_Del_p.L1705fs			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	1704						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	GAATAGGTGCTAGCAATCCAT	0.423													12	214	---	---	---	---						-	167056037	T	-	167056037	7	5	173	1	0	1	0	1	0	0	0	0	13979	1509	53	0	858	0	SCN9A	2	167056037	Frame_Shift_Del	DEL	T	TCGA-E1-A7YQ-01A-11D-A34J-08	55640829	167056037	76143336	6	23855											
PBRM1	55193	broad.mit.edu	37	3	52610666	52610666	+	Frame_Shift_Del	DEL	G	G	-			TCGA-E1-A7YQ-01A-11D-A34J-08	TCGA-E1-A7YQ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a958293-774d-4cb9-ba11-59ac163cfd03	df861df9-ee5c-4f51-8f5b-cefb65965693	g.chr3:52610666delG	ENST00000356770.4	-	21	3488	c.3486delC	c.(3484-3486)cccfs	p.P1162fs	SMIM4_ENST00000476842.1_Intron|PBRM1_ENST00000296302.7_Frame_Shift_Del_p.P1194fs|PBRM1_ENST00000409114.3_Frame_Shift_Del_p.P1209fs|PBRM1_ENST00000409767.1_Frame_Shift_Del_p.P1209fs|PBRM1_ENST00000394830.3_Frame_Shift_Del_p.P1169fs|PBRM1_ENST00000409057.1_Frame_Shift_Del_p.P1194fs|PBRM1_ENST00000410007.1_Frame_Shift_Del_p.P1169fs|PBRM1_ENST00000337303.4_Frame_Shift_Del_p.P1194fs			Q86U86	PB1_HUMAN	polybromo 1	1194	BAH 2.				chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		GAATGAAGATGGGGCCATAAA	0.368			"Mis, N, F, S, D, O"		"clear cell renal carcinoma, breast"								32	40	---	---	---	---						-	52610666	G	-	52610666	7	5	173	1	0	1	0	1	0	0	0	0	11538	1335	47	0	1354	0	PBRM1	3	52610666	Frame_Shift_Del	DEL	G	TCGA-E1-A7YQ-01A-11D-A34J-08		52610666	145411764	7	23856											
HEG1	57493	broad.mit.edu	37	3	124748221	124748221	+	Missense_Mutation	SNP	A	A	G			TCGA-E1-A7YQ-01A-11D-A34J-08	TCGA-E1-A7YQ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a958293-774d-4cb9-ba11-59ac163cfd03	df861df9-ee5c-4f51-8f5b-cefb65965693	g.chr3:124748221A>G	ENST00000311127.4	-	2	495	c.428T>C	c.(427-429)aTg>aCg	p.M143T		NM_020733.1	NP_065784.1	Q9ULI3	HEG1_HUMAN	heart development protein with EGF-like domains 1	143						extracellular region|integral to membrane	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4)	47						GGTCTGAACCATCACGCCCTC	0.488													28	26					0	0	1	0	0	G	124748221	A	G	124748221	3	3	173	1	0	0	0	0	1	0	0	0	7085	217	8	3	3781	3	HEG1	3	124748221	Missense_Mutation	SNP	A	TCGA-E1-A7YQ-01A-11D-A34J-08	72137555	124748221	73274209	8	23857											
EGF	1950	broad.mit.edu	37	4	110932547	110932547	+	Nonsense_Mutation	SNP	C	C	A			TCGA-E1-A7YQ-01A-11D-A34J-08	TCGA-E1-A7YQ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a958293-774d-4cb9-ba11-59ac163cfd03	df861df9-ee5c-4f51-8f5b-cefb65965693	g.chr4:110932547C>A	ENST00000265171.5	+	24	4005	c.3560C>A	c.(3559-3561)tCa>tAa	p.S1187*	EGF_ENST00000503392.1_Nonsense_Mutation_p.S1146*|EGF_ENST00000509793.1_Nonsense_Mutation_p.S1145*	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN	epidermal growth factor	1187					angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity	p.S1187L(1)		breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sulindac(DB00605)	TCTCTCCTATCAGCTAACCCA	0.502													12	127					1.3612e-06	1.55971e-06	1	1	0	A	110932547	C	A	110932547	4	1	173	1	0	0	0	0	0	1	0	0	4988	838	29	5	3654	5	EGF	4	110932547	Nonsense_Mutation	SNP	C	TCGA-E1-A7YQ-01A-11D-A34J-08		110932547	80221729	9	23858											
LTB	4050	broad.mit.edu	37	6	31548718	31548718	+	Frame_Shift_Del	DEL	C	C	-			TCGA-E1-A7YQ-01A-11D-A34J-08	TCGA-E1-A7YQ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a958293-774d-4cb9-ba11-59ac163cfd03	df861df9-ee5c-4f51-8f5b-cefb65965693	g.chr6:31548718delC	ENST00000429299.2	-	4	510	c.503delG	c.(502-504)ggcfs	p.G168fs	LTB_ENST00000483972.1_5'UTR|LTB_ENST00000446745.2_3'UTR	NM_002341.1	NP_002332.1	Q06643	TNFC_HUMAN	lymphotoxin beta (TNF superfamily, member 3)	168					cell-cell signaling|immune response|positive regulation of interleukin-12 biosynthetic process|signal transduction	extracellular space|integral to membrane	cytokine activity|tumor necrosis factor receptor binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	9					Infliximab(DB00065)|Simvastatin(DB00641)	CCCGTAGGCGCCCCCCGCCCG	0.751													2	4	---	---	---	---						-	31548718	C	-	31548718	7	5	173	1	0	1	0	1	0	0	0	0	9115	739	26	0	235	0	LTB	6	31548718	Frame_Shift_Del	DEL	C	TCGA-E1-A7YQ-01A-11D-A34J-08		31548718	139566349	10	23859											
C6orf211	79624	broad.mit.edu	37	6	151789765	151789765	+	Silent	SNP	A	A	G			TCGA-E1-A7YQ-01A-11D-A34J-08	TCGA-E1-A7YQ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a958293-774d-4cb9-ba11-59ac163cfd03	df861df9-ee5c-4f51-8f5b-cefb65965693	g.chr6:151789765A>G	ENST00000367294.3	+	5	1105	c.846A>G	c.(844-846)ggA>ggG	p.G282G	C6orf211_ENST00000545879.1_Silent_p.G163G	NM_024573.1	NP_078849.1	Q9H993	CF211_HUMAN	chromosome 6 open reading frame 211	282							protein binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(7)	15			BRCA - Breast invasive adenocarcinoma(37;0.183)	OV - Ovarian serous cystadenocarcinoma(155;5.27e-11)		ATTTTTATGGAAAAACAATTC	0.333													6	90					0	0	1	0	0	G	151789765	A	G	151789765	2	3	173	1	0	0	0	0	0	0	0	1	2368	233	9	3		3	C6orf211	6	151789765	Silent	SNP	A	TCGA-E1-A7YQ-01A-11D-A34J-08	120241047	151789765	19325302	11	23860											
EGFR	1956	broad.mit.edu	37	7	55240750	55240750	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YQ-01A-11D-A34J-08	TCGA-E1-A7YQ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a958293-774d-4cb9-ba11-59ac163cfd03	df861df9-ee5c-4f51-8f5b-cefb65965693	g.chr7:55240750G>A	ENST00000275493.2	+	17	2171	c.1994G>A	c.(1993-1995)gGc>gAc	p.G665D	EGFR_ENST00000454757.2_Missense_Mutation_p.G612D|EGFR_ENST00000455089.1_Missense_Mutation_p.G620D|EGFR_ENST00000442591.1_Intron	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	665					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	CTGGGGATCGGCCTCTTCATG	0.652		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			386	78					0	0	1	0	0	A	55240750	G	A	55240750	3	1	173	1	0	0	0	0	1	0	0	0	4993	1203	42	2	2324	2	EGFR	7	55240750	Missense_Mutation	SNP	G	TCGA-E1-A7YQ-01A-11D-A34J-08		55240750	103897913	12	23861											
MUC17	140453	broad.mit.edu	37	7	100685498	100685498	+	Missense_Mutation	SNP	G	G	C			TCGA-E1-A7YQ-01A-11D-A34J-08	TCGA-E1-A7YQ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a958293-774d-4cb9-ba11-59ac163cfd03	df861df9-ee5c-4f51-8f5b-cefb65965693	g.chr7:100685498G>C	ENST00000306151.4	+	3	10865	c.10801G>C	c.(10801-10803)Gtt>Ctt	p.V3601L		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3601	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CACTCCTTCTGTTGACAGAAG	0.463													21	149					0	0	1	0	0	C	100685498	G	C	100685498	3	2	173	1	0	0	0	0	1	0	0	0	10022	1377	48	5	10811	5	MUC17	7	100685498	Missense_Mutation	SNP	G	TCGA-E1-A7YQ-01A-11D-A34J-08	45444748	100685498	58453165	13	23862											
SLC26A4	5172	broad.mit.edu	37	7	107355878	107355878	+	Missense_Mutation	SNP	C	C	G			TCGA-E1-A7YQ-01A-11D-A34J-08	TCGA-E1-A7YQ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a958293-774d-4cb9-ba11-59ac163cfd03	df861df9-ee5c-4f51-8f5b-cefb65965693	g.chr7:107355878C>G	ENST00000265715.3	+	21	2554	c.2330C>G	c.(2329-2331)aCa>aGa	p.T777R	SLC26A4_ENST00000543100.1_Missense_Mutation_p.T346R|SLC26A4_ENST00000541474.1_Missense_Mutation_p.T338R|SLC26A4_ENST00000544569.1_Missense_Mutation_p.T364R	NM_000441.1	NP_000432.1	O43511	S26A4_HUMAN	solute carrier family 26 (anion exchanger), member 4	777					regulation of pH|regulation of protein localization|sensory perception of sound	apical plasma membrane|integral to membrane	chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity			central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						GCTATGCGTACACTTGCATCC	0.373									Pendred syndrome				5	143					0	0	1	0	0	G	107355878	C	G	107355878	3	3	173	1	0	0	0	0	1	0	0	0	14574	478	17	5	2408	5	SLC26A4	7	107355878	Missense_Mutation	SNP	C	TCGA-E1-A7YQ-01A-11D-A34J-08	6670380	107355878	51782785	14	23863											
C9orf3	84909	broad.mit.edu	37	9	97535395	97535397	+	In_Frame_Del	DEL	TTT	TTT	-	rs151071633	by1000genomes	TCGA-E1-A7YQ-01A-11D-A34J-08	TCGA-E1-A7YQ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a958293-774d-4cb9-ba11-59ac163cfd03	df861df9-ee5c-4f51-8f5b-cefb65965693	g.chr9:97535395_97535397delTTT	ENST00000375315.2	+	2	909_911	c.909_911delTTT	c.(907-912)tctttt>tct	p.F304del	C9orf3_ENST00000297979.5_In_Frame_Del_p.F304del|C9orf3_ENST00000277198.2_In_Frame_Del_p.F304del	NM_001193329.1	NP_001180258.1	Q8N6M6	AMPO_HUMAN	chromosome 9 open reading frame 3	304					leukotriene biosynthetic process|proteolysis	cytoplasm	aminopeptidase activity|metallopeptidase activity|zinc ion binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(323;0.000275)		CAGCTGCATCTTTTGTTGTTTTA	0.463													71	84	---	---	---	---						-	97535397	TTT	-	97535395	7	5	173	1	0	1	0	1	0	0	0	0	2495	1596	56	0	915	0	C9orf3	9	97535395	In_Frame_Del	DEL	TTT	TCGA-E1-A7YQ-01A-11D-A34J-08		97535395	43678036	15	23864											
VTI1A	143187	broad.mit.edu	37	10	114207166	114207166	+	Missense_Mutation	SNP	T	T	C			TCGA-E1-A7YQ-01A-11D-A34J-08	TCGA-E1-A7YQ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a958293-774d-4cb9-ba11-59ac163cfd03	df861df9-ee5c-4f51-8f5b-cefb65965693	g.chr10:114207166T>C	ENST00000393077.2	+	1	151	c.35T>C	c.(34-36)tTc>tCc	p.F12S	VTI1A_ENST00000483122.1_3'UTR|VTI1A_ENST00000432306.1_Missense_Mutation_p.F12S	NM_145206.2	NP_660207.2	Q96AJ9	VTI1A_HUMAN	vesicle transport through interaction with t-SNAREs 1A	12					intracellular protein transport|retrograde transport, endosome to Golgi	SNARE complex	protein transporter activity|SNAP receptor activity		VTI1A/TCF7L2(8)	breast(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	6		Colorectal(252;0.0314)|Breast(234;0.183)		Epithelial(162;0.0126)|all cancers(201;0.0487)		GAGCAGGACTTCGCGGTGCTC	0.647			T	TCF7L2	colorectal								12	10					0	0	1	0	0	C	114207166	T	C	114207166	3	2	173	1	0	0	0	0	1	0	0	0	17295	1783	62	3	37	3	VTI1A	10	114207166	Missense_Mutation	SNP	T	TCGA-E1-A7YQ-01A-11D-A34J-08		114207166	21327581	16	23865											
TACC2	10579	broad.mit.edu	37	10	124009064	124009064	+	Missense_Mutation	SNP	A	A	G			TCGA-E1-A7YQ-01A-11D-A34J-08	TCGA-E1-A7YQ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a958293-774d-4cb9-ba11-59ac163cfd03	df861df9-ee5c-4f51-8f5b-cefb65965693	g.chr10:124009064A>G	ENST00000369005.1	+	22	9006	c.8666A>G	c.(8665-8667)aAt>aGt	p.N2889S	TACC2_ENST00000369001.1_Missense_Mutation_p.N516S|TACC2_ENST00000260733.3_Missense_Mutation_p.N967S|TACC2_ENST00000368999.1_Missense_Mutation_p.N979S|TACC2_ENST00000369004.3_Missense_Mutation_p.N949S|TACC2_ENST00000515603.1_Missense_Mutation_p.N2767S|TACC2_ENST00000358010.1_Missense_Mutation_p.N1035S|TACC2_ENST00000369000.1_Missense_Mutation_p.N512S|TACC2_ENST00000334433.3_Missense_Mutation_p.N2889S|TACC2_ENST00000360561.3_Missense_Mutation_p.N937S|TACC2_ENST00000453444.2_Missense_Mutation_p.N2816S|TACC2_ENST00000513429.1_Missense_Mutation_p.N1035S|TACC2_ENST00000515273.1_Missense_Mutation_p.N2816S	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	2889						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				CGCAGGGCCAATGCTGAGATT	0.612													13	13					0	0	1	0	0	G	124009064	A	G	124009064	3	3	173	1	0	0	0	0	1	0	0	0	15559	101	4	3	8820	3	TACC2	10	124009064	Missense_Mutation	SNP	A	TCGA-E1-A7YQ-01A-11D-A34J-08	9801898	124009064	11525683	17	23866											
DCDC1	341019	broad.mit.edu	37	11	30926645	30926645	+	Missense_Mutation	SNP	G	G	A	rs144668195		TCGA-E1-A7YQ-01A-11D-A34J-08	TCGA-E1-A7YQ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a958293-774d-4cb9-ba11-59ac163cfd03	df861df9-ee5c-4f51-8f5b-cefb65965693	g.chr11:30926645G>A	ENST00000597505.1	-	29	4170	c.4171C>T	c.(4171-4173)Cgg>Tgg	p.R1391W	DCDC1_ENST00000406071.2_Missense_Mutation_p.R126W|DCDC1_ENST00000339794.5_Missense_Mutation_p.R470W			P59894	DCDC1_HUMAN	doublecortin domain containing 1	153					intracellular signal transduction					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					GTCTTCATCCGTAAAGACAAT	0.403													4	44					0	0	1	0	0	A	30926645	G	A	30926645	3	1	173	1	0	0	0	0	1	0	0	0	4307	1160	40	1		1	DCDC1	11	30926645	Missense_Mutation	SNP	G	TCGA-E1-A7YQ-01A-11D-A34J-08		30926645	104079871	18	23867											
CASP4	837	broad.mit.edu	37	11	104815486	104815486	+	Silent	SNP	G	G	T			TCGA-E1-A7YQ-01A-11D-A34J-08	TCGA-E1-A7YQ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a958293-774d-4cb9-ba11-59ac163cfd03	df861df9-ee5c-4f51-8f5b-cefb65965693	g.chr11:104815486G>T	ENST00000444739.2	-	8	2038	c.1128C>A	c.(1126-1128)ggC>ggA	p.G376G	CASP4_ENST00000393150.3_Silent_p.G320G	NM_001225.3	NP_001216.1	P49662	CASP4_HUMAN	caspase 4, apoptosis-related cysteine peptidase	376					apoptosis|induction of apoptosis|proteolysis	intracellular	cysteine-type endopeptidase activity|protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(2)	23		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000854)|Epithelial(105;0.00879)|all cancers(92;0.0357)		ATTTTCAATTGCCAGGAAAGA	0.383													8	36					0.000978159	0.00105488	1	1	0	T	104815486	G	T	104815486	2	4	173	1	0	0	0	0	0	0	0	1	2691	1306	46	5		5	CASP4	11	104815486	Silent	SNP	G	TCGA-E1-A7YQ-01A-11D-A34J-08	73888841	104815486	30191030	19	23868											
KCNA5	3741	broad.mit.edu	37	12	5153998	5153998	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YQ-01A-11D-A34J-08	TCGA-E1-A7YQ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a958293-774d-4cb9-ba11-59ac163cfd03	df861df9-ee5c-4f51-8f5b-cefb65965693	g.chr12:5153998C>T	ENST00000252321.3	+	1	914	c.685C>T	c.(685-687)Cgc>Tgc	p.R229C		NM_002234.3	NP_002225.2	P22460	KCNA5_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 5	229						Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2)	52						GCCCCTGCCCCGCAACGAGTT	0.607													14	94					0	0	1	0	0	T	5153998	C	T	5153998	3	4	173	1	0	0	0	0	1	0	0	0	8050	652	23	1	687	1	KCNA5	12	5153998	Missense_Mutation	SNP	C	TCGA-E1-A7YQ-01A-11D-A34J-08		5153998	128697897	20	23869											
CLSTN3	9746	broad.mit.edu	37	12	7295599	7295599	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YQ-01A-11D-A34J-08	TCGA-E1-A7YQ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a958293-774d-4cb9-ba11-59ac163cfd03	df861df9-ee5c-4f51-8f5b-cefb65965693	g.chr12:7295599G>A	ENST00000537408.1	+	10	2249	c.1711G>A	c.(1711-1713)Gag>Aag	p.E571K	CLSTN3_ENST00000266546.6_Missense_Mutation_p.E559K			Q9BQT9	CSTN3_HUMAN	calsyntenin 3	559					homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1)	33						TAGGGATTTCGAGAGCCTGGG	0.612													15	32					0	0	1	0	0	A	7295599	G	A	7295599	3	1	173	1	0	0	0	0	1	0	0	0	3586	1059	37	1	1717	1	CLSTN3	12	7295599	Missense_Mutation	SNP	G	TCGA-E1-A7YQ-01A-11D-A34J-08	2141601	7295599	126556296	21	23870											
CACNB3	784	broad.mit.edu	37	12	49219447	49219447	+	Missense_Mutation	SNP	T	T	C			TCGA-E1-A7YQ-01A-11D-A34J-08	TCGA-E1-A7YQ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a958293-774d-4cb9-ba11-59ac163cfd03	df861df9-ee5c-4f51-8f5b-cefb65965693	g.chr12:49219447T>C	ENST00000301050.2	+	9	836	c.637T>C	c.(637-639)Tcc>Ccc	p.S213P	CACNB3_ENST00000547230.1_Missense_Mutation_p.S172P|CACNB3_ENST00000547392.1_Missense_Mutation_p.S186P|CACNB3_ENST00000536187.2_Missense_Mutation_p.S212P|CACNB3_ENST00000540990.1_Missense_Mutation_p.S200P	NM_000725.3	NP_000716.2	P54284	CACB3_HUMAN	calcium channel, voltage-dependent, beta 3 subunit	213					axon guidance|membrane depolarization|synaptic transmission	cytosol|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			autonomic_ganglia(1)|breast(1)|large_intestine(5)|lung(4)|prostate(1)	12					Verapamil(DB00661)	CCCCAGGATCTCCATCACCCG	0.562													16	93					0	0	1	0	0	C	49219447	T	C	49219447	3	2	173	1	0	0	0	0	1	0	0	0	2572	1551	54	3	671	3	CACNB3	12	49219447	Missense_Mutation	SNP	T	TCGA-E1-A7YQ-01A-11D-A34J-08	41923848	49219447	84632448	22	23871											
MCRS1	10445	broad.mit.edu	37	12	49959390	49959390	+	Silent	SNP	A	A	G			TCGA-E1-A7YQ-01A-11D-A34J-08	TCGA-E1-A7YQ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a958293-774d-4cb9-ba11-59ac163cfd03	df861df9-ee5c-4f51-8f5b-cefb65965693	g.chr12:49959390A>G	ENST00000550165.1	-	5	476	c.210T>C	c.(208-210)tcT>tcC	p.S70S	MCRS1_ENST00000357123.4_Silent_p.S83S|MCRS1_ENST00000343810.4_Silent_p.S70S|MCRS1_ENST00000546244.1_5'UTR			Q96EZ8	MCRS1_HUMAN	microspherule protein 1	70	Ser-rich.				DNA recombination|DNA repair|protein modification process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|Ino80 complex|MLL1 complex|nucleolus	protein binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)	23						TTGCCCGGGTAGAAGATTTTG	0.562													65	154					0	0	1	0	0	G	49959390	A	G	49959390	2	3	173	1	0	0	0	0	0	0	0	1	9449	407	15	3		3	MCRS1	12	49959390	Silent	SNP	A	TCGA-E1-A7YQ-01A-11D-A34J-08	739943	49959390	83892505	23	23872											
CUX2	23316	broad.mit.edu	37	12	111758084	111758084	+	Silent	SNP	G	G	A			TCGA-E1-A7YQ-01A-11D-A34J-08	TCGA-E1-A7YQ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a958293-774d-4cb9-ba11-59ac163cfd03	df861df9-ee5c-4f51-8f5b-cefb65965693	g.chr12:111758084G>A	ENST00000261726.6	+	17	2425	c.2271G>A	c.(2269-2271)gcG>gcA	p.A757A		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	757						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						CCGCGCAGGCGCCGCTCCCGG	0.736													3	14					0	0	1	0	0	A	111758084	G	A	111758084	2	1	173	1	0	0	0	0	0	0	0	1	4088	1074	38	1		1	CUX2	12	111758084	Silent	SNP	G	TCGA-E1-A7YQ-01A-11D-A34J-08	61798694	111758084	22093811	24	23873											
DIS3	22894	broad.mit.edu	37	13	73345240	73345240	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YQ-01A-11D-A34J-08	TCGA-E1-A7YQ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a958293-774d-4cb9-ba11-59ac163cfd03	df861df9-ee5c-4f51-8f5b-cefb65965693	g.chr13:73345240G>A	ENST00000377767.4	-	12	1749	c.1649C>T	c.(1648-1650)tCc>tTc	p.S550F	DIS3_ENST00000545453.1_Missense_Mutation_p.S388F|DIS3_ENST00000377780.4_Missense_Mutation_p.S520F	NM_014953.3	NP_055768.3	Q9Y2L1	RRP44_HUMAN	DIS3 mitotic control homolog (S. cerevisiae)	550					CUT catabolic process|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA catabolic process|rRNA processing	cytosol|exosome (RNase complex)|nucleolus|nucleoplasm	3'-5'-exoribonuclease activity|endonuclease activity|guanyl-nucleotide exchange factor activity|protein binding|RNA binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(7)|kidney(5)|large_intestine(10)|lung(6)|prostate(2)|skin(1)	35		Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195)		GBM - Glioblastoma multiforme(99;0.000181)		ACATTTTAAGGAACACAAGTT	0.348										Multiple Myeloma(4;0.011)			6	36					0	0	1	0	0	A	73345240	G	A	73345240	3	1	173	1	0	0	0	0	1	0	0	0	4563	1174	41	2	1267	2	DIS3	13	73345240	Missense_Mutation	SNP	G	TCGA-E1-A7YQ-01A-11D-A34J-08		73345240	41824638	25	23874											
TMCO3	55002	broad.mit.edu	37	13	114149982	114149982	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YQ-01A-11D-A34J-08	TCGA-E1-A7YQ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a958293-774d-4cb9-ba11-59ac163cfd03	df861df9-ee5c-4f51-8f5b-cefb65965693	g.chr13:114149982C>T	ENST00000434316.2	+	2	445	c.86C>T	c.(85-87)gCg>gTg	p.A29V	TMCO3_ENST00000474393.1_3'UTR|TMCO3_ENST00000375391.1_Missense_Mutation_p.A29V	NM_017905.4	NP_060375.4	Q6UWJ1	TMCO3_HUMAN	transmembrane and coiled-coil domains 3	29						integral to membrane	solute:hydrogen antiporter activity			NS(1)|endometrium(4)|large_intestine(9)|liver(1)|lung(8)|prostate(1)|stomach(1)	25	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0145)|all_epithelial(44;0.00286)|all_lung(25;0.0273)|Breast(118;0.0411)|Lung NSC(25;0.0983)	all cancers(43;0.0317)			GAGGAGGTGGCGCAGCGTGTG	0.647													16	19					0	0	1	0	0	T	114149982	C	T	114149982	3	4	173	1	0	0	0	0	1	0	0	0	16057	768	27	1	88	1	TMCO3	13	114149982	Missense_Mutation	SNP	C	TCGA-E1-A7YQ-01A-11D-A34J-08	40804742	114149982	1019896	26	23875											
HHIPL1	84439	broad.mit.edu	37	14	100123456	100123456	+	Missense_Mutation	SNP	G	G	T			TCGA-E1-A7YQ-01A-11D-A34J-08	TCGA-E1-A7YQ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a958293-774d-4cb9-ba11-59ac163cfd03	df861df9-ee5c-4f51-8f5b-cefb65965693	g.chr14:100123456G>T	ENST00000330710.5	+	3	1120	c.1022G>T	c.(1021-1023)gGg>gTg	p.G341V	HHIPL1_ENST00000357223.2_Missense_Mutation_p.G341V	NM_001127258.1	NP_001120730.1	Q96JK4	HIPL1_HUMAN	HHIP-like 1	341					carbohydrate metabolic process	extracellular region|membrane	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding|scavenger receptor activity			breast(1)|endometrium(2)|large_intestine(2)|lung(8)|skin(2)	15		Melanoma(154;0.128)				GACCCCTTTGGGACATTTGGA	0.532													68	169					1.7488e-33	2.04646e-33	1	1	0	T	100123456	G	T	100123456	3	4	173	1	0	0	0	0	1	0	0	0	7134	1232	43	5	1032	5	HHIPL1	14	100123456	Missense_Mutation	SNP	G	TCGA-E1-A7YQ-01A-11D-A34J-08		100123456	7226084	27	23876											
AKAP13	11214	broad.mit.edu	37	15	86284361	86284361	+	Missense_Mutation	SNP	C	C	A			TCGA-E1-A7YQ-01A-11D-A34J-08	TCGA-E1-A7YQ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a958293-774d-4cb9-ba11-59ac163cfd03	df861df9-ee5c-4f51-8f5b-cefb65965693	g.chr15:86284361C>A	ENST00000394518.2	+	35	7788	c.7693C>A	c.(7693-7695)Ccg>Acg	p.P2565T	AKAP13_ENST00000394510.2_Missense_Mutation_p.P810T|AKAP13_ENST00000560579.1_3'UTR|AKAP13_ENST00000361243.2_Missense_Mutation_p.P2569T	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	2565	Interaction with ESR1.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						CTTGTCCCGCCCGAGCTCCCT	0.627													11	20					0.00136819	0.00144713	1	1	0	A	86284361	C	A	86284361	3	1	173	1	0	0	0	0	1	0	0	0	446	623	22	5	7897	5	AKAP13	15	86284361	Missense_Mutation	SNP	C	TCGA-E1-A7YQ-01A-11D-A34J-08		86284361	16247031	28	23877											
MYO15A	51168	broad.mit.edu	37	17	18023162	18023162	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YQ-01A-11D-A34J-08	TCGA-E1-A7YQ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a958293-774d-4cb9-ba11-59ac163cfd03	df861df9-ee5c-4f51-8f5b-cefb65965693	g.chr17:18023162G>A	ENST00000205890.5	+	2	1386	c.1048G>A	c.(1048-1050)Gac>Aac	p.D350N		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	350	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					TGCGCCGTACGACGCGCCATA	0.602													13	129					0	0	1	0	0	A	18023162	G	A	18023162	3	1	173	1	0	0	0	0	1	0	0	0	10111	1058	37	1	1050	1	MYO15A	17	18023162	Missense_Mutation	SNP	G	TCGA-E1-A7YQ-01A-11D-A34J-08		18023162	63172048	29	23878											
ZNF557	79230	broad.mit.edu	37	19	7083503	7083503	+	Silent	SNP	C	C	G			TCGA-E1-A7YQ-01A-11D-A34J-08	TCGA-E1-A7YQ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a958293-774d-4cb9-ba11-59ac163cfd03	df861df9-ee5c-4f51-8f5b-cefb65965693	g.chr19:7083503C>G	ENST00000414706.1	+	8	1514	c.1041C>G	c.(1039-1041)ccC>ccG	p.P347P	ZNF557_ENST00000252840.6_Silent_p.P347P|ZNF557_ENST00000439035.2_Silent_p.P340P	NM_001044387.1|NM_001044388.1|NM_024341.2	NP_001037852.1|NP_001037853.1|NP_077317.2	Q8N988	ZN557_HUMAN	zinc finger protein 557	340					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(6)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17				Lung(535;0.179)		GAGAAAAACCCTACACATGTA	0.423													29	52					0	0	1	0	0	G	7083503	C	G	7083503	2	3	173	1	0	0	0	0	0	0	0	1	18045	668	24	4		4	ZNF557	19	7083503	Silent	SNP	C	TCGA-E1-A7YQ-01A-11D-A34J-08		7083503	52045480	30	23879											
ARHGEF1	9138	broad.mit.edu	37	19	42396888	42396888	+	Silent	SNP	G	G	A			TCGA-E1-A7YQ-01A-11D-A34J-08	TCGA-E1-A7YQ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a958293-774d-4cb9-ba11-59ac163cfd03	df861df9-ee5c-4f51-8f5b-cefb65965693	g.chr19:42396888G>A	ENST00000599846.1	+	7	707	c.582G>A	c.(580-582)gcG>gcA	p.A194A	ARHGEF1_ENST00000378152.4_Silent_p.A176A|ARHGEF1_ENST00000354532.3_Silent_p.A194A|ARHGEF1_ENST00000347545.4_Silent_p.A161A|ARHGEF1_ENST00000337665.4_Silent_p.A209A			Q92888	ARHG1_HUMAN	Rho guanine nucleotide exchange factor (GEF) 1	194	RGSL.				cell proliferation|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis|regulation of Rho protein signal transduction|Rho protein signal transduction	cytosol|plasma membrane	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(8)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425)		Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644)		GGCACGTGGCGGAGCGGCTGC	0.706													7	13					0	0	1	0	0	A	42396888	G	A	42396888	2	1	173	1	0	0	0	0	0	0	0	1	890	1103	39	1		1	ARHGEF1	19	42396888	Silent	SNP	G	TCGA-E1-A7YQ-01A-11D-A34J-08	35313385	42396888	16732095	31	23880											
ZSCAN1	284312	broad.mit.edu	37	19	58549469	58549469	+	Missense_Mutation	SNP	G	G	A	rs148253808		TCGA-E1-A7YQ-01A-11D-A34J-08	TCGA-E1-A7YQ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a958293-774d-4cb9-ba11-59ac163cfd03	df861df9-ee5c-4f51-8f5b-cefb65965693	g.chr19:58549469G>A	ENST00000282326.1	+	3	512	c.265G>A	c.(265-267)Gcg>Acg	p.A89T	ZSCAN1_ENST00000601162.1_Missense_Mutation_p.A89T|ZSCAN1_ENST00000391700.1_Missense_Mutation_p.A89T	NM_182572.3	NP_872378.3	Q8NBB4	ZSCA1_HUMAN	zinc finger and SCAN domain containing 1	89	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.A89T(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		GTTCCTGGGCGCGCTGCCCAG	0.692													11	13					0	0	1	0	0	A	58549469	G	A	58549469	3	1	173	1	0	0	0	0	1	0	0	0	18268	1087	38	1	267	1	ZSCAN1	19	58549469	Missense_Mutation	SNP	G	TCGA-E1-A7YQ-01A-11D-A34J-08	16152581	58549469	579514	32	23881											
TCN2	6948	broad.mit.edu	37	22	31018998	31018998	+	Missense_Mutation	SNP	G	G	A	rs144166182		TCGA-E1-A7YQ-01A-11D-A34J-08	TCGA-E1-A7YQ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a958293-774d-4cb9-ba11-59ac163cfd03	df861df9-ee5c-4f51-8f5b-cefb65965693	g.chr22:31018998G>A	ENST00000215838.3	+	8	1644	c.1150G>A	c.(1150-1152)Gtg>Atg	p.V384M	TCN2_ENST00000407817.3_Missense_Mutation_p.V357M|TCN2_ENST00000405742.3_Missense_Mutation_p.V380M			P20062	TCO2_HUMAN	transcobalamin II	384					cobalamin metabolic process|cobalamin transport|cobalt ion transport	extracellular space	cobalamin binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|prostate(2)|urinary_tract(1)	22					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CTTAACCTCCGTGATGGGGAA	0.557													13	106					0	0	1	0	0	A	31018998	G	A	31018998	3	1	173	1	0	0	0	0	1	0	0	0	15767	1145	40	1	1180	1	TCN2	22	31018998	Missense_Mutation	SNP	G	TCGA-E1-A7YQ-01A-11D-A34J-08		31018998	20285568	33	23882											
SYN3	8224	broad.mit.edu	37	22	32923909	32923909	+	Silent	SNP	C	C	T			TCGA-E1-A7YQ-01A-11D-A34J-08	TCGA-E1-A7YQ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a958293-774d-4cb9-ba11-59ac163cfd03	df861df9-ee5c-4f51-8f5b-cefb65965693	g.chr22:32923909C>T	ENST00000358763.2	-	12	1556	c.1314G>A	c.(1312-1314)ccG>ccA	p.P438P	SYN3_ENST00000332840.5_Silent_p.P438P	NM_001135774.1	NP_001129246.1	O14994	SYN3_HUMAN	synapsin III	438	J; Pro-rich linker.				neurotransmitter secretion	cell junction|synaptic vesicle membrane	ATP binding|ligase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						TCATACCTTGCGGAGGTGGGC	0.587													4	12					0	0	1	0	0	T	32923909	C	T	32923909	2	4	173	1	0	0	0	0	0	0	0	1	15499	755	27	1		1	SYN3	22	32923909	Silent	SNP	C	TCGA-E1-A7YQ-01A-11D-A34J-08	1904911	32923909	18380657	34	23883											
TLR7	51284	broad.mit.edu	37	X	12905054	12905054	+	Missense_Mutation	SNP	G	G	C			TCGA-E1-A7YQ-01A-11D-A34J-08	TCGA-E1-A7YQ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a958293-774d-4cb9-ba11-59ac163cfd03	df861df9-ee5c-4f51-8f5b-cefb65965693	g.chrX:12905054G>C	ENST00000380659.3	+	3	1566	c.1427G>C	c.(1426-1428)aGa>aCa	p.R476T		NM_016562.3	NP_057646.1	Q9NYK1	TLR7_HUMAN	toll-like receptor 7	476					cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus	early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane	double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity			NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44					Imiquimod(DB00724)	AGGAGTTGCAGATTCAAAAAC	0.368													39	101					0	0	1	0	0	C	12905054	G	C	12905054	3	2	173	1	0	0	0	0	1	0	0	0	16016	942	33	4	1433	4	TLR7	23	12905054	Missense_Mutation	SNP	G	TCGA-E1-A7YQ-01A-11D-A34J-08		12905054	142365506	35	23884											
RAI2	10742	broad.mit.edu	37	X	17819635	17819635	+	Missense_Mutation	SNP	G	G	C			TCGA-E1-A7YQ-01A-11D-A34J-08	TCGA-E1-A7YQ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a958293-774d-4cb9-ba11-59ac163cfd03	df861df9-ee5c-4f51-8f5b-cefb65965693	g.chrX:17819635G>C	ENST00000545871.1	-	3	956	c.496C>G	c.(496-498)Ccc>Gcc	p.P166A	RAI2_ENST00000360011.1_Missense_Mutation_p.P166A|RAI2_ENST00000331511.1_Missense_Mutation_p.P166A|RAI2_ENST00000451717.1_Missense_Mutation_p.P166A|RAI2_ENST00000415486.3_Missense_Mutation_p.P116A	NM_001172739.1|NM_001172743.1	NP_001166210|NP_001166214	Q9Y5P3	RAI2_HUMAN	retinoic acid induced 2	166					embryo development					breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	22	Hepatocellular(33;0.183)					AGGAGCTGGGGCTGGGCCTCG	0.637													4	76					0	0	1	0	0	C	17819635	G	C	17819635	3	2	173	1	0	0	0	0	1	0	0	0	13061	1203	42	5	1100	5	RAI2	23	17819635	Missense_Mutation	SNP	G	TCGA-E1-A7YQ-01A-11D-A34J-08	4914581	17819635	137450925	36	23885											
DCAF8L1	139425	broad.mit.edu	37	X	27998163	27998163	+	Missense_Mutation	SNP	C	C	G			TCGA-E1-A7YQ-01A-11D-A34J-08	TCGA-E1-A7YQ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a958293-774d-4cb9-ba11-59ac163cfd03	df861df9-ee5c-4f51-8f5b-cefb65965693	g.chrX:27998163C>G	ENST00000441525.1	-	1	1403	c.1289G>C	c.(1288-1290)aGa>aCa	p.R430T		NM_001017930.1	NP_001017930.1	A6NGE4	DC8L1_HUMAN	DDB1 and CUL4 associated factor 8-like 1	430										NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						CCCCTTATATCTCTTAACATA	0.458													9	39					0	0	1	0	0	G	27998163	C	G	27998163	3	3	173	1	0	0	0	0	1	0	0	0	4301	913	32	4	517	4	DCAF8L1	23	27998163	Missense_Mutation	SNP	C	TCGA-E1-A7YQ-01A-11D-A34J-08	10178528	27998163	127272397	37	23886											
FAM47B	170062	broad.mit.edu	37	X	34961676	34961676	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YQ-01A-11D-A34J-08	TCGA-E1-A7YQ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a958293-774d-4cb9-ba11-59ac163cfd03	df861df9-ee5c-4f51-8f5b-cefb65965693	g.chrX:34961676G>A	ENST00000329357.5	+	1	764	c.728G>A	c.(727-729)cGc>cAc	p.R243H		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	243	Pro-rich.									breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						CCAGAGACTCGCGCATCTCAT	0.642													11	72					0	0	1	0	0	A	34961676	G	A	34961676	3	1	173	1	0	0	0	0	1	0	0	0	5606	1087	38	1	730	1	FAM47B	23	34961676	Missense_Mutation	SNP	G	TCGA-E1-A7YQ-01A-11D-A34J-08	6963513	34961676	120308884	38	23887											
SRPX	8406	broad.mit.edu	37	X	38079976	38079978	+	In_Frame_Del	DEL	GCA	GCA	-	rs72445954		TCGA-E1-A7YQ-01A-11D-A34J-08	TCGA-E1-A7YQ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a958293-774d-4cb9-ba11-59ac163cfd03	df861df9-ee5c-4f51-8f5b-cefb65965693	g.chrX:38079976_38079978delGCA	ENST00000378533.3	-	1	174_176	c.68_70delTGC	c.(67-72)ctgcgc>cgc	p.L23del	TM4SF2_ENST00000465127.1_Intron|SRPX_ENST00000343800.6_Intron|SRPX_ENST00000538295.1_In_Frame_Del_p.L23del|SRPX_ENST00000544439.1_In_Frame_Del_p.L23del|SRPX_ENST00000432886.2_In_Frame_Del_p.L23del	NM_006307.4	NP_006298.1	P78539	SRPX_HUMAN	sushi-repeat containing protein, X-linked	23			Missing.		cell adhesion	cell surface|membrane		p.L23delL(2)		autonomic_ganglia(1)|breast(2)|endometrium(5)|large_intestine(5)|lung(10)|prostate(2)	25						GGCGGGACGCgcagcagcagcag	0.729											OREG0019726	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	4	---	---	---	---						-	38079978	GCA	-	38079976	7	5	173	1	0	1	0	1	0	0	0	0	15220	1087	38	0	1364	0	SRPX	23	38079976	In_Frame_Del	DEL	GCA	TCGA-E1-A7YQ-01A-11D-A34J-08	3118300	38079976	117190584	39	23888											
ZNF157	7712	broad.mit.edu	37	X	47270081	47270081	+	Missense_Mutation	SNP	C	C	A			TCGA-E1-A7YQ-01A-11D-A34J-08	TCGA-E1-A7YQ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a958293-774d-4cb9-ba11-59ac163cfd03	df861df9-ee5c-4f51-8f5b-cefb65965693	g.chrX:47270081C>A	ENST00000377073.3	+	3	288	c.202C>A	c.(202-204)Ctc>Atc	p.L68I		NM_003446.3	NP_003437.2	P51786	ZN157_HUMAN	zinc finger protein 157	68	KRAB.				negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	11						ATTAACAGGCCTCTGCGTGGC	0.517													3	16					0.00024832	0.000273152	1	1	0	A	47270081	C	A	47270081	3	1	173	1	0	0	0	0	1	0	0	0	17795	681	24	4	212	4	ZNF157	23	47270081	Missense_Mutation	SNP	C	TCGA-E1-A7YQ-01A-11D-A34J-08	9190105	47270081	108000479	40	23889											
PCDH19	57526	broad.mit.edu	37	X	99661865	99661865	+	Missense_Mutation	SNP	T	T	C			TCGA-E1-A7YQ-01A-11D-A34J-08	TCGA-E1-A7YQ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a958293-774d-4cb9-ba11-59ac163cfd03	df861df9-ee5c-4f51-8f5b-cefb65965693	g.chrX:99661865T>C	ENST00000373034.4	-	1	3406	c.1731A>G	c.(1729-1731)atA>atG	p.I577M	PCDH19_ENST00000420881.2_Missense_Mutation_p.I577M|PCDH19_ENST00000255531.7_Missense_Mutation_p.I577M	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	577	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						AGTTGCGGGGTATGTAGACCT	0.572													4	87					0	0	1	0	0	C	99661865	T	C	99661865	3	2	173	1	0	0	0	0	1	0	0	0	11561	1628	57	3	1739	3	PCDH19	23	99661865	Missense_Mutation	SNP	T	TCGA-E1-A7YQ-01A-11D-A34J-08	52391784	99661865	55608695	41	23890											
DCAF12L2	340578	broad.mit.edu	37	X	125299247	125299247	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YQ-01A-11D-A34J-08	TCGA-E1-A7YQ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a958293-774d-4cb9-ba11-59ac163cfd03	df861df9-ee5c-4f51-8f5b-cefb65965693	g.chrX:125299247G>A	ENST00000538699.1	-	2	741	c.661C>T	c.(661-663)Cgg>Tgg	p.R221W	DCAF12L2_ENST00000360028.2_Missense_Mutation_p.R221W	NM_001013628.2	NP_001013650.1	Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	221										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						GGGTCCATCCGCCACAGAGCC	0.637													5	76					0	0	1	0	0	A	125299247	G	A	125299247	3	1	173	1	0	0	0	0	1	0	0	0	4289	1086	38	1	734	1	DCAF12L2	23	125299247	Missense_Mutation	SNP	G	TCGA-E1-A7YQ-01A-11D-A34J-08	25637382	125299247	29971313	42	23891											
CHD5	26038	broad.mit.edu	37	1	6194808	6194808	+	Silent	SNP	G	G	A			TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chr1:6194808G>A	ENST00000262450.3	-	19	3081	c.2982C>T	c.(2980-2982)aaC>aaT	p.N994N	CHD5_ENST00000378021.1_5'UTR	NM_015557.2	NP_056372.1	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	994					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		GGTAGGGGTGGTTGCAGCACT	0.572													14	52					0	0	1	0	0	A	6194808	G	A	6194808	2	1	174	1	0	0	0	0	0	0	0	1	3350	1252	44	2		2	CHD5	1	6194808	Silent	SNP	G	TCGA-E1-A7YS-01A-11D-A34A-08		6194808	243055813	1	23892											
PIK3CD	5293	broad.mit.edu	37	1	9780177	9780177	+	Missense_Mutation	SNP	G	G	T			TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chr1:9780177G>T	ENST00000536656.1	+	11	1450	c.1242G>T	c.(1240-1242)aaG>aaT	p.K414N	PIK3CD_ENST00000361110.2_Missense_Mutation_p.K414N|PIK3CD_ENST00000377346.4_Missense_Mutation_p.K449N|PIK3CD_ENST00000543390.1_Missense_Mutation_p.K116N			O00329	PK3CD_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta	449					phosphatidylinositol-mediated signaling|protein phosphorylation	phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31	all_lung(157;0.222)	all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419)		CAGATGAGAAGGGCGAGCTGC	0.657													27	4					1.03073e-24	1.1143e-24	1	1	0	T	9780177	G	T	9780177	3	4	174	1	0	0	0	0	1	0	0	0	11963	991	35	4	1381	4	PIK3CD	1	9780177	Missense_Mutation	SNP	G	TCGA-E1-A7YS-01A-11D-A34A-08	3585369	9780177	239470444	2	23893											
SLC44A5	204962	broad.mit.edu	37	1	75684273	75684273	+	Silent	SNP	G	G	A	rs148196192		TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chr1:75684273G>A	ENST00000370855.5	-	17	1544	c.1431C>T	c.(1429-1431)tgC>tgT	p.C477C	SLC44A5_ENST00000535611.1_Silent_p.C347C|SLC44A5_ENST00000370859.3_Silent_p.C477C	NM_152697.4	NP_689910.2	Q8NCS7	CTL5_HUMAN	solute carrier family 44, member 5	477						integral to membrane|plasma membrane	choline transmembrane transporter activity			kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						CAGCAAGGGCGCACTGACCTA	0.438													3	39					0	0	1	0	0	A	75684273	G	A	75684273	2	1	174	1	0	0	0	0	0	0	0	1	14694	1079	38	1		1	SLC44A5	1	75684273	Silent	SNP	G	TCGA-E1-A7YS-01A-11D-A34A-08	65904096	75684273	173566348	3	23894											
SLC35A3	23443	broad.mit.edu	37	1	100483315	100483315	+	Silent	SNP	G	G	A			TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chr1:100483315G>A	ENST00000370155.3	+	7	1223	c.831G>A	c.(829-831)tcG>tcA	p.S277S	SLC35A3_ENST00000465289.1_Intron|SLC35A3_ENST00000370153.1_Silent_p.S319S|SLC35A3_ENST00000427993.2_Silent_p.S277S|SLC35A3_ENST00000370156.3_3'UTR	NM_012243.1	NP_036375.1	Q9Y2D2	S35A3_HUMAN	solute carrier family 35 (UDP-N-acetylglucosamine (UDP-GlcNAc) transporter), member A3	277					UDP-N-acetylglucosamine metabolic process	Golgi membrane|integral to membrane	sugar:hydrogen symporter activity|UDP-N-acetylglucosamine transmembrane transporter activity			biliary_tract(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	11		all_epithelial(167;0.000686)|all_lung(203;0.0154)|Lung NSC(277;0.0155)		Epithelial(280;0.124)|all cancers(265;0.198)|Lung(183;0.199)		CCTCTTTATCGATAATATTAT	0.294													16	15					0	0	1	0	0	A	100483315	G	A	100483315	2	1	174	1	0	0	0	0	0	0	0	1	14627	1045	37	1		1	SLC35A3	1	100483315	Silent	SNP	G	TCGA-E1-A7YS-01A-11D-A34A-08	24799042	100483315	148767306	4	23895											
MAEL	84944	broad.mit.edu	37	1	166973530	166973530	+	Missense_Mutation	SNP	A	A	G			TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chr1:166973530A>G	ENST00000367872.4	+	6	881	c.637A>G	c.(637-639)Atc>Gtc	p.I213V	MAEL_ENST00000491055.1_3'UTR|MAEL_ENST00000367870.2_Missense_Mutation_p.I182V	NM_032858.1	NP_116247.1	Q96JY0	MAEL_HUMAN	maelstrom spermatogenic transposon silencer	213					cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|multicellular organismal development|piRNA metabolic process|spermatogenesis	piP-body	DNA binding			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(12)|skin(4)	28						CTGGCCACCTATCTACTGCAA	0.343													15	39					0	0	1	0	0	G	166973530	A	G	166973530	3	3	174	1	0	0	0	0	1	0	0	0	9200	449	16	3	659	3	MAEL	1	166973530	Missense_Mutation	SNP	A	TCGA-E1-A7YS-01A-11D-A34A-08	66490215	166973530	82277091	5	23896											
GREB1	9687	broad.mit.edu	37	2	11738849	11738849	+	Silent	SNP	G	G	A			TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chr2:11738849G>A	ENST00000381486.2	+	15	2496	c.2196G>A	c.(2194-2196)aaG>aaA	p.K732K	GREB1_ENST00000234142.5_Silent_p.K732K	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	732						integral to membrane				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		ACATGACGAAGCAGAGGGTGG	0.453													6	110					0	0	1	0	0	A	11738849	G	A	11738849	2	1	174	1	0	0	0	0	0	0	0	1	6801	962	34	2		2	GREB1	2	11738849	Silent	SNP	G	TCGA-E1-A7YS-01A-11D-A34A-08		11738849	231460524	6	23897											
DHX57	90957	broad.mit.edu	37	2	39053719	39053719	+	Missense_Mutation	SNP	T	T	A	rs34973087		TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chr2:39053719T>A	ENST00000295373.6	-	15	2878	c.2752A>T	c.(2752-2754)Aca>Tca	p.T918S		NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57	918	Helicase C-terminal.						ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62		all_hematologic(82;0.248)				GTTATGGATGTCTCAGCAATG	0.403													18	66					0	0	1	0	0	A	39053719	T	A	39053719	3	1	174	1	0	0	0	0	1	0	0	0	4541	1667	58	5	1448	5	DHX57	2	39053719	Missense_Mutation	SNP	T	TCGA-E1-A7YS-01A-11D-A34A-08	27314870	39053719	204145654	7	23898											
GFPT1	2673	broad.mit.edu	37	2	69601201	69601201	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chr2:69601201C>T	ENST00000357308.4	-	2	230	c.52G>A	c.(52-54)Gaa>Aaa	p.E18K	GFPT1_ENST00000494201.1_5'UTR|GFPT1_ENST00000361060.5_Missense_Mutation_p.E18K	NM_001244710.1	NP_001231639.1	Q06210	GFPT1_HUMAN	glutamine--fructose-6-phosphate transaminase 1	18	Glutamine amidotransferase type-2.				dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding			endometrium(1)|large_intestine(3)|lung(5)|skin(3)	12						TCCAGGATTTCTCGTCTCGTT	0.328													27	98					0	0	1	0	0	T	69601201	C	T	69601201	3	4	174	1	0	0	0	0	1	0	0	0	6387	922	32	2	2065	2	GFPT1	2	69601201	Missense_Mutation	SNP	C	TCGA-E1-A7YS-01A-11D-A34A-08	30547482	69601201	173598172	8	23899											
TRIM43	129868	broad.mit.edu	37	2	96260159	96260159	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chr2:96260159G>A	ENST00000272395.2	+	2	524	c.388G>A	c.(388-390)Gaa>Aaa	p.E130K		NM_001164464.1|NM_138800.1	NP_001157936.1|NP_620155.1	Q96BQ3	TRI43_HUMAN	tripartite motif containing 43	130						intracellular	zinc ion binding			breast(1)|large_intestine(3)|lung(7)|ovary(1)	12						CCATCCCATCGAAGAGGCAGC	0.488													16	75					0	0	1	0	0	A	96260159	G	A	96260159	3	1	174	1	0	0	0	0	1	0	0	0	16579	1059	37	1	390	1	TRIM43	2	96260159	Missense_Mutation	SNP	G	TCGA-E1-A7YS-01A-11D-A34A-08	26658958	96260159	146939214	9	23900											
TTN	7273	broad.mit.edu	37	2	179571236	179571236	+	Missense_Mutation	SNP	C	C	A			TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chr2:179571236C>A	ENST00000589042.1	-	102	29589	c.29365G>T	c.(29365-29367)Gat>Tat	p.D9789Y	TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.D9472Y|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D8545Y	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	9472	Ig-like 79.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCCTTTCATCCACCTGTAAG	0.383													12	57					5.16669e-11	5.43862e-11	1	1	0	A	179571236	C	A	179571236	3	1	174	1	0	0	0	0	1	0	0	0	16797	855	30	5	75208	5	TTN	2	179571236	Missense_Mutation	SNP	C	TCGA-E1-A7YS-01A-11D-A34A-08	83311077	179571236	63628137	10	23901											
TTN	7273	broad.mit.edu	37	2	179611639	179611639	+	Missense_Mutation	SNP	C	C	T	rs150492317		TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chr2:179611639C>T	ENST00000360870.5	-	46	15710	c.15488G>A	c.(15487-15489)cGt>cAt	p.R5163H	TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000589042.1_Intron|TTN_ENST00000342992.6_Intron	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	7080	Ig-like 32.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.R5163H(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGAATCGGAACGCCATATTTC	0.388													29	142					0	0	1	0	0	T	179611639	C	T	179611639	3	4	174	1	0	0	0	0	1	0	0	0	16797	536	19	1	94809	1	TTN	2	179611639	Missense_Mutation	SNP	C	TCGA-E1-A7YS-01A-11D-A34A-08	40403	179611639	63587734	11	23902											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	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	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								45	38					0	0	1	0	0	T	209113112	C	T	209113112	3	4	174	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-E1-A7YS-01A-11D-A34A-08	29501473	209113112	34086261	12	23903											
CAMK1	8536	broad.mit.edu	37	3	9804880	9804880	+	Missense_Mutation	SNP	A	A	G			TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chr3:9804880A>G	ENST00000256460.3	-	4	410	c.233T>C	c.(232-234)aTt>aCt	p.I78T	OGG1_ENST00000302036.7_Intron|OGG1_ENST00000383826.5_Intron|OGG1_ENST00000349503.5_Intron|OGG1_ENST00000302008.8_Intron|OGG1_ENST00000449570.2_Intron	NM_003656.4	NP_003647.1	Q14012	KCC1A_HUMAN	calcium/calmodulin-dependent protein kinase I	78	Protein kinase.				cell differentiation|nervous system development|positive regulation of muscle cell differentiation|signal transduction	cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	12	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.0475)		CAGGGCTACAATGTTGGGGTG	0.572													31	44					0	0	1	0	0	G	9804880	A	G	9804880	3	3	174	1	0	0	0	0	1	0	0	0	2614	101	4	3	915	3	CAMK1	3	9804880	Missense_Mutation	SNP	A	TCGA-E1-A7YS-01A-11D-A34A-08		9804880	188217550	13	23904											
DNAH1	25981	broad.mit.edu	37	3	52420322	52420322	+	Silent	SNP	G	G	A			TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chr3:52420322G>A	ENST00000420323.2	+	55	9033	c.8772G>A	c.(8770-8772)ctG>ctA	p.L2924L		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	2924	Stalk (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		ATGCGGCTCTGGCCAGCCTGC	0.582													4	3					0	0	1	0	0	A	52420322	G	A	52420322	2	1	174	1	0	0	0	0	0	0	0	1	4625	1335	47	2		2	DNAH1	3	52420322	Silent	SNP	G	TCGA-E1-A7YS-01A-11D-A34A-08	42615442	52420322	145602108	14	23905											
OR5H2	79310	broad.mit.edu	37	3	98002344	98002344	+	Missense_Mutation	SNP	T	T	G			TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chr3:98002344T>G	ENST00000355273.2	+	1	613	c.613T>G	c.(613-615)Ttt>Gtt	p.F205V	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005482.1	NP_001005482.1	Q8NGV7	OR5H2_HUMAN	olfactory receptor, family 5, subfamily H, member 2	205					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(5)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	24						TCTAATGGTTTTTATTTTGTC	0.313													14	51					0	0	1	0	0	G	98002344	T	G	98002344	3	3	174	1	0	0	0	0	1	0	0	0	11209	1841	64	5	615	5	OR5H2	3	98002344	Missense_Mutation	SNP	T	TCGA-E1-A7YS-01A-11D-A34A-08	45582022	98002344	100020086	15	23906											
ZBTB20	26137	broad.mit.edu	37	3	114058240	114058240	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chr3:114058240C>T	ENST00000462705.1	-	12	2440	c.1619G>A	c.(1618-1620)cGc>cAc	p.R540H	ZBTB20_ENST00000393785.2_Missense_Mutation_p.R540H|ZBTB20_ENST00000357258.3_Missense_Mutation_p.R540H|ZBTB20_ENST00000481632.1_Missense_Mutation_p.R540H|ZBTB20_ENST00000464560.1_Missense_Mutation_p.R540H|ZBTB20_ENST00000474710.1_Missense_Mutation_p.R613H|ZBTB20_ENST00000471418.1_Missense_Mutation_p.R540H	NM_001164343.1	NP_001157815.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	613					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		GGAGAAGGAGCGCCAACAGAT	0.498													27	31					0	0	1	0	0	T	114058240	C	T	114058240	3	4	174	1	0	0	0	0	1	0	0	0	17588	768	27	1	391	1	ZBTB20	3	114058240	Missense_Mutation	SNP	C	TCGA-E1-A7YS-01A-11D-A34A-08	16055896	114058240	83964190	16	23907											
EIF4G1	1981	broad.mit.edu	37	3	184046467	184046467	+	Silent	SNP	C	C	T			TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chr3:184046467C>T	ENST00000342981.4	+	26	4419	c.4005C>T	c.(4003-4005)ccC>ccT	p.P1335P	EIF4G1_ENST00000427845.1_Silent_p.P1248P|EIF4G1_ENST00000350481.5_Silent_p.P1170P|EIF4G1_ENST00000435046.2_Silent_p.P1138P|EIF4G1_ENST00000346169.2_Silent_p.P1334P|EIF4G1_ENST00000434061.2_Silent_p.P1139P|EIF4G1_ENST00000441154.1_Silent_p.P1171P|EIF4G1_ENST00000411531.1_Silent_p.P1295P|EIF4G1_ENST00000382330.3_Silent_p.P1341P|EIF4G1_ENST00000424196.1_Silent_p.P1341P|EIF4G1_ENST00000352767.3_Silent_p.P1341P|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000392537.2_Silent_p.P1247P|EIF4G1_ENST00000319274.6_Silent_p.P1334P|EIF4G1_ENST00000414031.1_Silent_p.P1294P	NM_182917.4	NP_886553	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	1334	MI.				insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TTGACATCCCCCACGTGTGGC	0.532													50	82					0	0	1	0	0	T	184046467	C	T	184046467	2	4	174	1	0	0	0	0	0	0	0	1	5064	610	22	2		2	EIF4G1	3	184046467	Silent	SNP	C	TCGA-E1-A7YS-01A-11D-A34A-08	69988227	184046467	13975963	17	23908											
KLB	152831	broad.mit.edu	37	4	39448717	39448717	+	Missense_Mutation	SNP	G	G	T			TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chr4:39448717G>T	ENST00000257408.4	+	4	2468	c.2371G>T	c.(2371-2373)Gcc>Tcc	p.A791S		NM_175737.3	NP_783864.1	Q86Z14	KLOTB_HUMAN	klotho beta	791	Glycosyl hydrolase-1 2.				carbohydrate metabolic process	integral to membrane|plasma membrane	cation binding|fibroblast growth factor binding|hydrolase activity, hydrolyzing O-glycosyl compounds			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|skin(6)	29						GGAATACATTGCCTCCAAGCA	0.672													24	13					2.44723e-14	2.61038e-14	1	1	0	T	39448717	G	T	39448717	3	4	174	1	0	0	0	0	1	0	0	0	8375	1319	46	5	2385	5	KLB	4	39448717	Missense_Mutation	SNP	G	TCGA-E1-A7YS-01A-11D-A34A-08		39448717	151705559	18	23909											
GABRA2	2555	broad.mit.edu	37	4	46263984	46263984	+	Missense_Mutation	SNP	T	T	C			TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chr4:46263984T>C	ENST00000510861.1	-	9	1191	c.1018A>G	c.(1018-1020)Aga>Gga	p.R340G	GABRA2_ENST00000540012.1_Missense_Mutation_p.R285G|GABRA2_ENST00000507069.1_Missense_Mutation_p.R340G|GABRA2_ENST00000515082.1_Missense_Mutation_p.R340G|GABRA2_ENST00000381620.4_Missense_Mutation_p.R340G|GABRA2_ENST00000356504.1_Missense_Mutation_p.R340G|GABRA2_ENST00000514090.1_Missense_Mutation_p.R340G			P47869	GBRA2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 2	340					gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels	cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56					Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	GCCCATCCTCTTTTGGTGAAG	0.393													20	49					0	0	1	0	0	C	46263984	T	C	46263984	3	2	174	1	0	0	0	0	1	0	0	0	6196	1617	56	3	345	3	GABRA2	4	46263984	Missense_Mutation	SNP	T	TCGA-E1-A7YS-01A-11D-A34A-08	6815267	46263984	144890292	19	23910											
SMARCAD1	56916	broad.mit.edu	37	4	95147295	95147295	+	Silent	SNP	A	A	G			TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chr4:95147295A>G	ENST00000354268.4	+	3	289	c.216A>G	c.(214-216)ccA>ccG	p.P72P	SMARCAD1_ENST00000457823.2_Silent_p.P72P			Q9H4L7	SMRCD_HUMAN	SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1	72					chromatin modification|nucleotide metabolic process|positive regulation of transcription, DNA-dependent|protein homooligomerization|regulation of DNA recombination	nuclear matrix	ATP binding|DNA binding|helicase activity			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|liver(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44				OV - Ovarian serous cystadenocarcinoma(123;4.33e-08)		CAGAAACTCCAGATAATGAAA	0.313													26	44					0	0	1	0	0	G	95147295	A	G	95147295	2	3	174	1	0	0	0	0	0	0	0	1	14826	175	7	3		3	SMARCAD1	4	95147295	Silent	SNP	A	TCGA-E1-A7YS-01A-11D-A34A-08	48883311	95147295	96006981	20	23911											
PIK3R1	5295	broad.mit.edu	37	5	67591097	67591097	+	Missense_Mutation	SNP	A	A	G			TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chr5:67591097A>G	ENST00000521381.1	+	13	2306	c.1690A>G	c.(1690-1692)Aac>Gac	p.N564D	PIK3R1_ENST00000336483.5_Missense_Mutation_p.N294D|PIK3R1_ENST00000320694.8_Missense_Mutation_p.N264D|PIK3R1_ENST00000396611.1_Missense_Mutation_p.N564D|PIK3R1_ENST00000523872.1_Missense_Mutation_p.N201D|PIK3R1_ENST00000521657.1_Missense_Mutation_p.N564D|PIK3R1_ENST00000274335.5_Missense_Mutation_p.N564D	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	564					epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.N564D(4)|p.D560_S565del(1)|p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	CAAACGTATGAACAGCATTAA	0.373			"Mis, F, O"		"gliobastoma, ovarian, colorectal"					TCGA GBM(4;<1E-08)			39	54					0	0	1	0	0	G	67591097	A	G	67591097	3	3	174	1	0	0	0	0	1	0	0	0	11966	246	9	3	1866	3	PIK3R1	5	67591097	Missense_Mutation	SNP	A	TCGA-E1-A7YS-01A-11D-A34A-08		67591097	113324163	21	23912											
OR2B3	442184	broad.mit.edu	37	6	29054540	29054540	+	Missense_Mutation	SNP	C	C	A			TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chr6:29054540C>A	ENST00000377173.2	-	1	550	c.486G>T	c.(484-486)ttG>ttT	p.L162F		NM_001005226.2	NP_001005226.1			olfactory receptor, family 2, subfamily B, member 3											breast(1)|endometrium(1)|kidney(2)|lung(17)|prostate(1)|skin(2)	24						TGTTAAGAGTCAAGGAAGACT	0.488													12	22					6.40141e-05	6.56555e-05	1	1	0	A	29054540	C	A	29054540	3	1	174	1	0	0	0	0	1	0	0	0	11038	825	29	5	459	5	OR2B3	6	29054540	Missense_Mutation	SNP	C	TCGA-E1-A7YS-01A-11D-A34A-08		29054540	142060527	22	23913											
FAM26E	254228	broad.mit.edu	37	6	116836965	116836965	+	Missense_Mutation	SNP	A	A	C			TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chr6:116836965A>C	ENST00000368599.3	+	2	794	c.743A>C	c.(742-744)aAc>aCc	p.N248T	TRAPPC3L_ENST00000368602.3_Intron	NM_153711.2	NP_714922.1	Q8N5C1	FA26E_HUMAN	family with sequence similarity 26, member E	248						integral to membrane				breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)	7		all_cancers(87;0.0608)|all_epithelial(87;0.05)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0242)|all cancers(137;0.0419)|OV - Ovarian serous cystadenocarcinoma(136;0.0671)|Epithelial(106;0.212)		TTTTTTGAAAACAAGAGGCCA	0.468													42	20					0	0	1	0	0	C	116836965	A	C	116836965	3	2	174	1	0	0	0	0	1	0	0	0	5586	43	2	5	749	5	FAM26E	6	116836965	Missense_Mutation	SNP	A	TCGA-E1-A7YS-01A-11D-A34A-08	87782425	116836965	54278102	23	23914											
STK31	56164	broad.mit.edu	37	7	23793986	23793986	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chr7:23793986G>A	ENST00000354639.3	+	10	1581	c.1117G>A	c.(1117-1119)Gtg>Atg	p.V373M	STK31_ENST00000405627.3_3'UTR|STK31_ENST00000355870.3_Missense_Mutation_p.V396M|STK31_ENST00000428484.1_Missense_Mutation_p.V373M|STK31_ENST00000433467.2_Missense_Mutation_p.V396M	NM_001260504.1|NM_032944.3	NP_001247433.1|NP_116562.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	396							ATP binding|nucleic acid binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						TGCTATACAAGTGTTGGATGA	0.363													35	97					0	0	1	0	0	A	23793986	G	A	23793986	3	1	174	1	0	0	0	0	1	0	0	0	15352	1029	36	2	1224	2	STK31	7	23793986	Missense_Mutation	SNP	G	TCGA-E1-A7YS-01A-11D-A34A-08		23793986	135344677	24	23915											
PCLO	27445	broad.mit.edu	37	7	82784068	82784068	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chr7:82784068G>A	ENST00000333891.9	-	2	2226	c.1889C>T	c.(1888-1890)aCg>aTg	p.T630M	PCLO_ENST00000423517.2_Missense_Mutation_p.T630M	NM_033026.5	NP_149015.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein		Pro-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						ACTTACCTCCGTTAAATGAGG	0.383													25	21					0	0	1	0	0	A	82784068	G	A	82784068	3	1	174	1	0	0	0	0	1	0	0	0	11630	1145	40	1	13652	1	PCLO	7	82784068	Missense_Mutation	SNP	G	TCGA-E1-A7YS-01A-11D-A34A-08	58990082	82784068	76354595	25	23916											
SAMD9L	219285	broad.mit.edu	37	7	92764432	92764432	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chr7:92764432G>A	ENST00000318238.4	-	5	2069	c.853C>T	c.(853-855)Cgg>Tgg	p.R285W	SAMD9L_ENST00000437805.1_Missense_Mutation_p.R285W|SAMD9L_ENST00000411955.1_Missense_Mutation_p.R285W	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	285										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			CTTGGCTCCCGAATACACTTC	0.373													12	162					0	0	1	0	0	A	92764432	G	A	92764432	3	1	174	1	0	0	0	0	1	0	0	0	13879	1057	37	1	3905	1	SAMD9L	7	92764432	Missense_Mutation	SNP	G	TCGA-E1-A7YS-01A-11D-A34A-08	9980364	92764432	66374231	26	23917											
TRIM24	8805	broad.mit.edu	37	7	138252324	138252324	+	Silent	SNP	C	C	T			TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chr7:138252324C>T	ENST00000343526.4	+	10	1844	c.1629C>T	c.(1627-1629)aaC>aaT	p.N543N	TRIM24_ENST00000415680.2_Silent_p.N509N|TRIM24_ENST00000497516.1_3'UTR			O15164	TIF1A_HUMAN	tripartite motif containing 24	543					cellular response to estrogen stimulus|protein catabolic process|regulation of apoptosis|regulation of protein stability|transcription from RNA polymerase II promoter	cytoplasm	chromatin binding|estrogen response element binding|histone acetyl-lysine binding|p53 binding|transcription coactivator activity|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(5)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	40						ATCCACCAAACCAGAACATAC	0.443													28	113					0	0	1	0	0	T	138252324	C	T	138252324	2	4	174	1	0	0	0	0	0	0	0	1	16559	506	18	2		2	TRIM24	7	138252324	Silent	SNP	C	TCGA-E1-A7YS-01A-11D-A34A-08	45487892	138252324	20886339	27	23918											
CSMD1	64478	broad.mit.edu	37	8	3611478	3611478	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chr8:3611478C>T	ENST00000520002.1	-	6	1460	c.905G>A	c.(904-906)cGc>cAc	p.R302H	CSMD1_ENST00000539096.1_Missense_Mutation_p.R302H|CSMD1_ENST00000602557.1_Missense_Mutation_p.R302H|CSMD1_ENST00000542608.1_Missense_Mutation_p.R302H|CSMD1_ENST00000400186.3_Missense_Mutation_p.R302H|CSMD1_ENST00000537824.1_Missense_Mutation_p.R302H|CSMD1_ENST00000602723.1_Missense_Mutation_p.R302H			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	302	CUB 2.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		AAATCCTTTGCGTCGGTGGTT	0.413													11	19					0	0	1	0	0	T	3611478	C	T	3611478	3	4	174	1	0	0	0	0	1	0	0	0	3969	768	27	1	9862	1	CSMD1	8	3611478	Missense_Mutation	SNP	C	TCGA-E1-A7YS-01A-11D-A34A-08		3611478	142752544	28	23919											
FER1L6	654463	broad.mit.edu	37	8	125061980	125061980	+	Missense_Mutation	SNP	G	G	C			TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chr8:125061980G>C	ENST00000522917.1	+	22	3063	c.2857G>C	c.(2857-2859)Gta>Cta	p.V953L	FER1L6-AS2_ENST00000601180.1_RNA|FER1L6_ENST00000399018.1_Missense_Mutation_p.V953L|FER1L6-AS2_ENST00000520031.1_RNA	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	953						integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			TCTCCTTGCTGTATTTGAACT	0.512													18	89					0	0	1	0	0	C	125061980	G	C	125061980	3	2	174	1	0	0	0	0	1	0	0	0	5848	1377	48	5	2939	5	FER1L6	8	125061980	Missense_Mutation	SNP	G	TCGA-E1-A7YS-01A-11D-A34A-08	121450502	125061980	21302042	29	23920											
DENND3	22898	broad.mit.edu	37	8	142185466	142185466	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chr8:142185466G>A	ENST00000519811.1	+	14	2513	c.2443G>A	c.(2443-2445)Gtt>Att	p.V815I	DENND3_ENST00000424248.1_Missense_Mutation_p.V683I|DENND3_ENST00000262585.2_Missense_Mutation_p.V735I			A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	735										breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			AAACCTAGGCGTTGGCAAGAT	0.522											OREG0019025	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	68					0	0	1	0	0	A	142185466	G	A	142185466	3	1	174	1	0	0	0	0	1	0	0	0	4460	1145	40	1	2253	1	DENND3	8	142185466	Missense_Mutation	SNP	G	TCGA-E1-A7YS-01A-11D-A34A-08	17123486	142185466	4178556	30	23921											
RFX3	5991	broad.mit.edu	37	9	3293233	3293233	+	Missense_Mutation	SNP	T	T	C			TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chr9:3293233T>C	ENST00000382004.3	-	7	886	c.575A>G	c.(574-576)gAg>gGg	p.E192G	RFX3_ENST00000302303.1_Missense_Mutation_p.E192G|RFX3_ENST00000358730.2_Missense_Mutation_p.E192G	NM_001282116.1|NM_134428.1	NP_001269045.1|NP_602304.1	P48380	RFX3_HUMAN	regulatory factor X, 3 (influences HLA class II expression)	192					cell maturation|ciliary cell motility|cilium assembly|cilium movement involved in determination of left/right asymmetry|endocrine pancreas development|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type B pancreatic cell development|regulation of insulin secretion	nuclear chromatin	protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(11)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(50;0.00124)|Lung(2;0.0337)		TTCTGCTGTCTCATAATTGTC	0.438													40	3					0	0	1	0	0	C	3293233	T	C	3293233	3	2	174	1	0	0	0	0	1	0	0	0	13316	1551	54	3	1878	3	RFX3	9	3293233	Missense_Mutation	SNP	T	TCGA-E1-A7YS-01A-11D-A34A-08		3293233	137920198	31	23922											
GDA	9615	broad.mit.edu	37	9	74764597	74764600	+	Splice_Site	DEL	AAGT	AAGT	-			TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chr9:74764597_74764600delAAGT	ENST00000358399.3	+	1	215_216	c.122_123delAAGT	c.(121-123)aaa>a	p.K41fs	GDA_ENST00000545168.1_Intron|GDA_ENST00000376989.3_Splice_Site_p.K16fs|GDA_ENST00000376986.1_Splice_Site_p.S1fs|GDA_ENST00000238018.4_Splice_Site_p.K41fs	NM_001242505.2|NM_001242506.2|NM_004293.4	NP_001229434.1|NP_001229435.1|NP_004284.1	Q9Y2T3	GUAD_HUMAN	guanine deaminase	41					nervous system development|purine base metabolic process|purine nucleotide catabolic process	cytosol	guanine deaminase activity|zinc ion binding			central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(20)|ovary(2)|skin(2)|urinary_tract(1)	32		Myeloproliferative disorder(762;0.0122)		Lung(182;0.0583)		GACAGCGGCAAAGTAAGCAGGCGC	0.686													8	6	---	---	---	---						-	74764600	AAGT	-	74764597	8	5	174	1	0	1	0	1	0	0	1	0	6347	28	1	0	124	0	GDA	9	74764597	Splice_Site	DEL	AAGT	TCGA-E1-A7YS-01A-11D-A34A-08	71471364	74764597	66448834	32	23923											
PRRX2	51450	broad.mit.edu	37	9	132482906	132482906	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chr9:132482906G>A	ENST00000372469.4	+	3	706	c.479G>A	c.(478-480)cGc>cAc	p.R160H		NM_016307.3	NP_057391.1	Q99811	PRRX2_HUMAN	paired related homeobox 2	160						nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			lung(2)|pancreas(1)	3		Ovarian(14;0.00556)				GCCAAGTTCCGCAGGAATGAA	0.672													17	43					0	0	1	0	0	A	132482906	G	A	132482906	3	1	174	1	0	0	0	0	1	0	0	0	12663	1087	38	1	489	1	PRRX2	9	132482906	Missense_Mutation	SNP	G	TCGA-E1-A7YS-01A-11D-A34A-08	57718309	132482906	8730525	33	23924											
GDI2	2665	broad.mit.edu	37	10	5827898	5827898	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chr10:5827898C>T	ENST00000380191.4	-	5	794	c.504G>A	c.(502-504)atG>atA	p.M168I	GDI2_ENST00000380181.3_Missense_Mutation_p.M123I|GDI2_ENST00000380132.4_Missense_Mutation_p.M172I	NM_001115156.1|NM_001494.3	NP_001108628.1|NP_001485.2	P50395	GDIB_HUMAN	GDP dissociation inhibitor 2	168					protein transport|small GTPase mediated signal transduction	cell surface|cytosol|membrane	protein binding|Rab GDP-dissociation inhibitor activity			NS(1)|breast(1)|large_intestine(1)|lung(6)|urinary_tract(1)	10						ACACATCTCGCATTGTGGTCT	0.363													35	33					0	0	1	0	0	T	5827898	C	T	5827898	3	4	174	1	0	0	0	0	1	0	0	0	6363	710	25	2	861	2	GDI2	10	5827898	Missense_Mutation	SNP	C	TCGA-E1-A7YS-01A-11D-A34A-08		5827898	129706849	34	23925											
SEC31B	25956	broad.mit.edu	37	10	102258994	102258994	+	Missense_Mutation	SNP	C	C	G			TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chr10:102258994C>G	ENST00000370345.3	-	13	1604	c.1507G>C	c.(1507-1509)Gac>Cac	p.D503H	SEC31B_ENST00000494350.1_5'UTR	NM_015490.3	NP_056305.1	Q9NQW1	SC31B_HUMAN	SEC31 homolog B (S. cerevisiae)	503					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane				NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1)	36		Colorectal(252;0.117)		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)		AGCCCCACGTCACTCTTCAAC	0.517													3	19					0	0	1	0	0	G	102258994	C	G	102258994	3	3	174	1	0	0	0	0	1	0	0	0	14053	826	29	5	2088	5	SEC31B	10	102258994	Missense_Mutation	SNP	C	TCGA-E1-A7YS-01A-11D-A34A-08	96431096	102258994	33275753	35	23926											
TMEM180	79847	broad.mit.edu	37	10	104228827	104228827	+	Missense_Mutation	SNP	C	C	G			TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chr10:104228827C>G	ENST00000238936.4	+	3	278	c.41C>G	c.(40-42)cCc>cGc	p.P14R	TMEM180_ENST00000366277.2_5'UTR|TMEM180_ENST00000369931.3_Missense_Mutation_p.P14R|TMEM180_ENST00000450947.2_3'UTR	NM_024789.3	NP_079065.2	Q14CX5	TM180_HUMAN	transmembrane protein 180	14						integral to membrane				breast(3)|endometrium(2)|large_intestine(3)|lung(1)|ovary(3)|skin(1)	13		Colorectal(252;0.122)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		CTGGGTCTGCCCACAGCTGTG	0.617													15	20					0	0	1	0	0	G	104228827	C	G	104228827	3	3	174	1	0	0	0	0	1	0	0	0	16159	623	22	5	43	5	TMEM180	10	104228827	Missense_Mutation	SNP	C	TCGA-E1-A7YS-01A-11D-A34A-08	1969833	104228827	31305920	36	23927											
OR4A16	81327	broad.mit.edu	37	11	55111376	55111376	+	Frame_Shift_Del	DEL	G	G	-			TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chr11:55111376delG	ENST00000314721.2	+	1	750	c.700delG	c.(700-702)gccfs	p.A234fs		NM_001005274.1	NP_001005274.1	Q8NH70	O4A16_HUMAN	olfactory receptor, family 4, subfamily A, member 16	234					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						GAGGCATAAAGCCCTGCCTAC	0.413													21	66	---	---	---	---						-	55111376	G	-	55111376	7	5	174	1	0	1	0	1	0	0	0	0	11089	971	34	0	702	0	OR4A16	11	55111376	Frame_Shift_Del	DEL	G	TCGA-E1-A7YS-01A-11D-A34A-08		55111376	79895140	37	23928											
OR5B2	390190	broad.mit.edu	37	11	58190261	58190261	+	Silent	SNP	A	A	G			TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chr11:58190261A>G	ENST00000302581.2	-	1	525	c.474T>C	c.(472-474)atT>atC	p.I158I		NM_001005566.2	NP_001005566.1	Q96R09	OR5B2_HUMAN	olfactory receptor, family 5, subfamily B, member 2	158					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				ATATGCCCCCAATGTGGAATG	0.483													10	50					0	0	1	0	0	G	58190261	A	G	58190261	2	3	174	1	0	0	0	0	0	0	0	1	11197	126	5	3		3	OR5B2	11	58190261	Silent	SNP	A	TCGA-E1-A7YS-01A-11D-A34A-08	3078885	58190261	76816255	38	23929											
SART1	9092	broad.mit.edu	37	11	65729299	65729299	+	Silent	SNP	G	G	T			TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chr11:65729299G>T	ENST00000312397.5	+	1	140	c.48G>T	c.(46-48)acG>acT	p.T16T	SART1_ENST00000528573.1_3'UTR	NM_005146.4	NP_005137.1	O43290	SNUT1_HUMAN	squamous cell carcinoma antigen recognized by T cells	16					cell cycle arrest|induction of apoptosis by intracellular signals|positive regulation of cytotoxic T cell differentiation|spliceosomal snRNP assembly	Cajal body|catalytic step 2 spliceosome|cytosol				endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						cggccgggacgacggcggcgg	0.697													8	23					0.00307968	0.00307968	1	1	0	T	65729299	G	T	65729299	2	4	174	1	0	0	0	0	0	0	0	1	13899	1045	37	5		5	SART1	11	65729299	Silent	SNP	G	TCGA-E1-A7YS-01A-11D-A34A-08	7539038	65729299	69277217	39	23930											
MMP12	4321	broad.mit.edu	37	11	102743629	102743629	+	RNA	SNP	C	C	T			TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chr11:102743629C>T	ENST00000532855.1	-	0	412							P39900	MMP12_HUMAN	matrix metallopeptidase 12 (macrophage elastase)						positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.014)	Acetohydroxamic Acid(DB00551)	CATACGGGCCCCCCTGGCATT	0.502													9	16					0	0	1	0	0	T	102743629	C	T	102743629	1	4	174	0	1	0	0	0	0	0	0	0	9699	623	22	2		2	MMP12	11	102743629	RNA	SNP	C	TCGA-E1-A7YS-01A-11D-A34A-08	37014330	102743629	32262887	40	23931											
CNTN1	1272	broad.mit.edu	37	12	41423022	41423025	+	Splice_Site	DEL	GTAA	GTAA	-			TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chr12:41423022_41423025delGTAA	ENST00000551295.2	+	23	3097		c.e23+1		CNTN1_ENST00000348761.2_Splice_Site|CNTN1_ENST00000347616.1_Splice_Site	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1						axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				AAAATTTCAGGTAAGTGAGTCATT	0.456													53	35	---	---	---	---						-	41423025	GTAA	-	41423022	8	5	174	1	0	1	0	1	0	0	1	0	3663	1275	44	0	3067	0	CNTN1	12	41423022	Splice_Site	DEL	GTAA	TCGA-E1-A7YS-01A-11D-A34A-08		41423022	92428873	41	23932											
CNOT2	4848	broad.mit.edu	37	12	70713109	70713109	+	Missense_Mutation	SNP	T	T	C			TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chr12:70713109T>C	ENST00000229195.3	+	4	782	c.203T>C	c.(202-204)cTg>cCg	p.L68P	CNOT2_ENST00000418359.3_Missense_Mutation_p.L68P	NM_014515.5	NP_055330.1	Q9NZN8	CNOT2_HUMAN	CCR4-NOT transcription complex, subunit 2	68					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	protein binding|RNA polymerase II transcription cofactor activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(2)|urinary_tract(1)	20	Renal(347;0.236)		GBM - Glioblastoma multiforme(1;4.77e-09)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118)			TCAGGTCAGCTGTCTCAGTTT	0.333													20	44					0	0	1	0	0	C	70713109	T	C	70713109	3	2	174	1	0	0	0	0	1	0	0	0	3642	1580	55	3	213	3	CNOT2	12	70713109	Missense_Mutation	SNP	T	TCGA-E1-A7YS-01A-11D-A34A-08	29290087	70713109	63138786	42	23933											
SRRM4	84530	broad.mit.edu	37	12	119588985	119588985	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chr12:119588985C>T	ENST00000267260.4	+	10	1628	c.1240C>T	c.(1240-1242)Ccc>Tcc	p.P414S		NM_194286.3	NP_919262.2	A7MD48	SRRM4_HUMAN	serine/arginine repetitive matrix 4	414	Ser-rich.				cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						CAGGGCTTCCCCCAGGTACAC	0.542													27	22					0	0	1	0	0	T	119588985	C	T	119588985	3	4	174	1	0	0	0	0	1	0	0	0	15227	623	22	2	1278	2	SRRM4	12	119588985	Missense_Mutation	SNP	C	TCGA-E1-A7YS-01A-11D-A34A-08	48875876	119588985	14262910	43	23934											
GOLGA3	2802	broad.mit.edu	37	12	133384808	133384808	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chr12:133384808C>T	ENST00000204726.3	-	5	1405	c.847G>A	c.(847-849)Gtt>Att	p.V283I	GOLGA3_ENST00000545875.1_Missense_Mutation_p.V283I|GOLGA3_ENST00000456883.2_Missense_Mutation_p.V283I|GOLGA3_ENST00000537452.1_Missense_Mutation_p.V283I|GOLGA3_ENST00000450791.2_Missense_Mutation_p.V283I	NM_005895.3	NP_005886.2	Q08378	GOGA3_HUMAN	golgin A3	283					intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity			breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		TCAGACACAACGGACGCCGCA	0.567													26	54					0	0	1	0	0	T	133384808	C	T	133384808	3	4	174	1	0	0	0	0	1	0	0	0	6596	536	19	1	3867	1	GOLGA3	12	133384808	Missense_Mutation	SNP	C	TCGA-E1-A7YS-01A-11D-A34A-08	13795823	133384808	467087	44	23935											
PTPN21	11099	broad.mit.edu	37	14	89016730	89016730	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chr14:89016730C>T	ENST00000556564.1	-	2	316	c.32G>A	c.(31-33)cGc>cAc	p.R11H	PTPN21_ENST00000328736.3_Missense_Mutation_p.R11H|PTPN21_ENST00000554628.1_5'UTR	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type 21	11						cytoplasm|cytoskeleton	binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						GCGCCGGGTGCGTTTCAGTTT	0.537													14	29					0	0	1	0	0	T	89016730	C	T	89016730	3	4	174	1	0	0	0	0	1	0	0	0	12838	768	27	1	3564	1	PTPN21	14	89016730	Missense_Mutation	SNP	C	TCGA-E1-A7YS-01A-11D-A34A-08		89016730	18332810	45	23936											
SPINT1	6692	broad.mit.edu	37	15	41136875	41136875	+	Silent	SNP	C	C	T			TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chr15:41136875C>T	ENST00000344051.4	+	2	357	c.123C>T	c.(121-123)ccC>ccT	p.P41P	SPINT1_ENST00000431806.1_Silent_p.P41P|SPINT1_ENST00000562057.1_Silent_p.P41P			O43278	SPIT1_HUMAN	serine peptidase inhibitor, Kunitz type 1	41						extracellular region|membrane fraction	protein binding|serine-type endopeptidase inhibitor activity			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	16		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;2.91e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166)		CGCCCGCGCCCCCTGGGCTGC	0.746													5	0					0	0	1	0	0	T	41136875	C	T	41136875	2	4	174	1	0	0	0	0	0	0	0	1	15124	610	22	2		2	SPINT1	15	41136875	Silent	SNP	C	TCGA-E1-A7YS-01A-11D-A34A-08		41136875	61394517	46	23937											
EDC3	80153	broad.mit.edu	37	15	74964117	74964117	+	Splice_Site	SNP	T	T	A			TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chr15:74964117T>A	ENST00000315127.4	-	3	346		c.e3-2		EDC3_ENST00000426797.3_Splice_Site|EDC3_ENST00000568176.1_Splice_Site	NM_001142444.1|NM_025083.3	NP_001135916.1|NP_079359.2	Q96F86	EDC3_HUMAN	enhancer of mRNA decapping 3						exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol	protein binding|RNA binding	p.?(1)		breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	16						TCACCTGCCCTGAAATACACA	0.408													46	5					0	0	1	0	0	A	74964117	T	A	74964117	5	1	174	1	0	0	0	0	0	0	1	0	4933	1594	55	5	1383	5	EDC3	15	74964117	Splice_Site	SNP	T	TCGA-E1-A7YS-01A-11D-A34A-08	33827242	74964117	27567275	47	23938											
ZNF689	115509	broad.mit.edu	37	16	30616153	30616153	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chr16:30616153G>A	ENST00000287461.3	-	3	1272	c.935C>T	c.(934-936)aCg>aTg	p.T312M	RP11-146F11.5_ENST00000563540.1_RNA|ZNF689_ENST00000566673.1_5'UTR	NM_138447.1	NP_612456.1	Q96CS4	ZN689_HUMAN	zinc finger protein 689	312					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(1)	14			Colorectal(24;0.198)			CTTCTCGCCCGTGTGGATGCG	0.672													3	16					0	0	1	0	0	A	30616153	G	A	30616153	3	1	174	1	0	0	0	0	1	0	0	0	18150	1145	40	1	571	1	ZNF689	16	30616153	Missense_Mutation	SNP	G	TCGA-E1-A7YS-01A-11D-A34A-08		30616153	59738600	48	23939											
SLC12A3	6559	broad.mit.edu	37	16	56926069	56926069	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chr16:56926069G>A	ENST00000438926.2	+	20	2472	c.2443G>A	c.(2443-2445)Gct>Act	p.A815T	SLC12A3_ENST00000262502.5_Intron|SLC12A3_ENST00000563236.1_Intron|SLC12A3_ENST00000566786.1_Missense_Mutation_p.A814T	NM_000339.2|NM_001126107.1|NM_001126108.1	NP_000330|NP_001119579.1|NP_001119580.1	P55017	S12A3_HUMAN	solute carrier family 12 (sodium/chloride transporter), member 3	806					sodium ion transmembrane transport	apical plasma membrane|integral to plasma membrane|membrane fraction	sodium:chloride symporter activity			breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	AGTCTCTGGCGCTTGTCAGTG	0.587													33	34					0	0	1	0	0	A	56926069	G	A	56926069	3	1	174	1	0	0	0	0	1	0	0	0	14439	1087	38	1	2521	1	SLC12A3	16	56926069	Missense_Mutation	SNP	G	TCGA-E1-A7YS-01A-11D-A34A-08	26309916	56926069	33428684	49	23940											
NAE1	8883	broad.mit.edu	37	16	66851378	66851379	+	In_Frame_Ins	INS	-	-	ATG			TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chr16:66851378_66851379insATG	ENST00000379463.2	-	10	807_808	c.615_616insCAT	c.(613-618)catact>catCATact	p.205_206insH	NAE1_ENST00000394074.2_In_Frame_Ins_p.122_123insH|NAE1_ENST00000290810.3_In_Frame_Ins_p.211_212insH|NAE1_ENST00000359087.4_In_Frame_Ins_p.214_215insH	NM_001018159.1	NP_001018169.1	Q13564	ULA1_HUMAN	NEDD8 activating enzyme E1 subunit 1	211					apoptosis|cell cycle|DNA replication|mitotic cell cycle DNA replication checkpoint|protein neddylation|signal transduction	cytoplasm|insoluble fraction|plasma membrane	catalytic activity|protein heterodimerization activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0914)|Epithelial(162;0.214)	Adenosine triphosphate(DB00171)	ATCCATGGAGTATGACTGTGGT	0.287													19	32	---	---	---	---						ATG	66851379	-	ATG	66851378	7	5	174	1	0	1	1	0	0	0	0	0	10187	1638	57	0	1018	0	NAE1	16	66851378	In_Frame_Ins	INS	-	TCGA-E1-A7YS-01A-11D-A34A-08	9925309	66851378	23503375	50	23941											
HOXB4	3214	broad.mit.edu	37	17	46655328	46655328	+	Silent	SNP	C	C	T			TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chr17:46655328C>T	ENST00000332503.5	-	1	2145	c.354G>A	c.(352-354)ccG>ccA	p.P118P	HOXB3_ENST00000498678.1_Intron|HOXB3_ENST00000476342.1_Intron|HOXB3_ENST00000460160.1_Intron|HOXB3_ENST00000489475.1_Intron|HOXB-AS3_ENST00000465846.2_RNA|HOXB3_ENST00000472863.1_Intron|HOXB3_ENST00000552000.2_Intron|HOXB3_ENST00000465120.3_Intron	NM_024015.4	NP_076920.1	P17483	HXB4_HUMAN	homeobox B4	118	Pro-rich (part of the transcriptional activation domain).					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|urinary_tract(2)	9						AGGGAGGCGGCGGGGGGCTGC	0.751													16	12					0	0	1	0	0	T	46655328	C	T	46655328	2	4	174	1	0	0	0	0	0	0	0	1	7344	755	27	1		1	HOXB4	17	46655328	Silent	SNP	C	TCGA-E1-A7YS-01A-11D-A34A-08		46655328	34539882	51	23942											
PHOSPHO1	162466	broad.mit.edu	37	17	47304069	47304069	+	Translation_Start_Site	SNP	G	G	A			TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chr17:47304069G>A	ENST00000310544.4	-	0	112				PHOSPHO1_ENST00000514112.1_De_novo_Start_InFrame|PHOSPHO1_ENST00000413580.1_De_novo_Start_InFrame			Q8TCT1	PHOP1_HUMAN	phosphatase, orphan 1						regulation of bone mineralization		metal ion binding|phosphoethanolamine/phosphocholine phosphatase activity							Epithelial(5;8.1e-06)|all cancers(6;7.71e-05)		Choline(DB00122)	GTGCATTACCGTGAGCACCAC	0.562													12	42					0	0	1	0	0	A	47304069	G	A	47304069	1	1	174	1	0	0	0	0	0	0	0	0	11904	1160	40	1		1	PHOSPHO1	17	47304069	Translation_Start_Site	SNP	G	TCGA-E1-A7YS-01A-11D-A34A-08	648741	47304069	33891141	52	23943											
DGKE	8526	broad.mit.edu	37	17	54933942	54933942	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chr17:54933942C>T	ENST00000284061.3	+	8	1348	c.1168C>T	c.(1168-1170)Cgt>Tgt	p.R390C		NM_003647.2	NP_003638.1	P52429	DGKE_HUMAN	diacylglycerol kinase, epsilon 64kDa	390					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|phospholipid biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding|protein binding			breast(3)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25	Breast(9;3.59e-07)					TCATGCTCATCGTGAGAAGGC	0.378													11	77					0	0	1	0	0	T	54933942	C	T	54933942	3	4	174	1	0	0	0	0	1	0	0	0	4496	884	31	1	1194	1	DGKE	17	54933942	Missense_Mutation	SNP	C	TCGA-E1-A7YS-01A-11D-A34A-08	7629873	54933942	26261268	53	23944											
CSHL1	1444	broad.mit.edu	37	17	61987352	61987352	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chr17:61987352C>T	ENST00000450719.3	-	3	596	c.359G>A	c.(358-360)gGg>gAg	p.G120E	CSHL1_ENST00000259003.10_Intron|CSHL1_ENST00000309894.5_Intron|CSHL1_ENST00000561003.1_Missense_Mutation_p.G131E|CSHL1_ENST00000392824.4_3'UTR|CSHL1_ENST00000558099.1_5'UTR|CSHL1_ENST00000346606.6_Intron|CSHL1_ENST00000438387.2_Intron			Q14406	CSHL_HUMAN	chorionic somatomammotropin hormone-like 1	0						extracellular region	hormone activity|metal ion binding			endometrium(3)|lung(6)	9						TCCTCCTTCCCCTTCAGGGTG	0.527													20	63					0	0	1	0	0	T	61987352	C	T	61987352	3	4	174	1	0	0	0	0	1	0	0	0	3967	638	22	2		2	CSHL1	17	61987352	Missense_Mutation	SNP	C	TCGA-E1-A7YS-01A-11D-A34A-08	7053410	61987352	19207858	54	23945											
SERPINB10	5273	broad.mit.edu	37	18	61600315	61600315	+	Nonsense_Mutation	SNP	A	A	T			TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chr18:61600315A>T	ENST00000238508.3	+	7	726	c.667A>T	c.(667-669)Aag>Tag	p.K223*		NM_005024.1	NP_005015.1			serpin peptidase inhibitor, clade B (ovalbumin), member 10											breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(3)|stomach(2)	24		Esophageal squamous(42;0.131)				GATGTTTATGAAGAAAAAGCT	0.373													77	47					0	0	1	0	0	T	61600315	A	T	61600315	4	4	174	1	0	0	0	0	0	1	0	0	14151	247	9	5	689	5	SERPINB10	18	61600315	Nonsense_Mutation	SNP	A	TCGA-E1-A7YS-01A-11D-A34A-08		61600315	16476933	55	23946											
LPPR3	79948	broad.mit.edu	37	19	813360	813362	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chr19:813360_813362delTCC	ENST00000359894.2	-	7	1512_1514	c.1449_1451delGGA	c.(1447-1452)gaggaa>gaa	p.483_484EE>E	LPPR3_ENST00000520876.3_In_Frame_Del_p.455_456EE>E	NM_024888.2	NP_079164.1	Q6T4P5	LPPR3_HUMAN		455						integral to membrane	phosphatidate phosphatase activity										ctcctcctcttcctcctcctcct	0.759													2	4	---	---	---	---						-	813362	TCC	-	813360	7	5	174	1	0	1	0	1	0	0	0	0	8971	1783	62	0	793	0	LPPR3	19	813360	In_Frame_Del	DEL	TCC	TCGA-E1-A7YS-01A-11D-A34A-08		813360	58315623	56	23947											
ATP8B3	148229	broad.mit.edu	37	19	1800065	1800065	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chr19:1800065C>T	ENST00000539485.1	-	14	1666	c.1433G>A	c.(1432-1434)cGc>cAc	p.R478H	ATP8B3_ENST00000310127.6_Missense_Mutation_p.R478H|ATP8B3_ENST00000525591.1_Missense_Mutation_p.R431H|ATP8B3_ENST00000526092.2_Missense_Mutation_p.R425H			O60423	AT8B3_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 3	478					ATP biosynthetic process		ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23		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)		GCTGGTGCTGCGGGCCTTGGC	0.587													10	10					0	0	1	0	0	T	1800065	C	T	1800065	3	4	174	1	0	0	0	0	1	0	0	0	1194	768	27	1	2563	1	ATP8B3	19	1800065	Missense_Mutation	SNP	C	TCGA-E1-A7YS-01A-11D-A34A-08	986705	1800065	57328918	57	23948											
TLE2	7089	broad.mit.edu	37	19	3028803	3028803	+	Splice_Site	DEL	T	T	-			TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chr19:3028803delT	ENST00000262953.6	-	2	287		c.e2-2		TLE2_ENST00000426948.2_Splice_Site|TLE2_ENST00000455444.2_5'UTR|TLE2_ENST00000591529.1_Splice_Site|TLE2_ENST00000590536.1_Splice_Site|TLE2_ENST00000443826.3_Splice_Site	NM_003260.4	NP_003251.2	Q04725	TLE2_HUMAN	transducin-like enhancer of split 2 (E(sp1) homolog, Drosophila)						negative regulation of canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding|transcription corepressor activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	13				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)		GAGCGGGGTCTGGGGGGGGTG	0.622													51	63	---	---	---	---						-	3028803	T	-	3028803	8	5	174	1	0	1	0	1	0	0	1	0	15999	1594	55	0	2287	0	TLE2	19	3028803	Splice_Site	DEL	T	TCGA-E1-A7YS-01A-11D-A34A-08	1228738	3028803	56100180	58	23949											
LILRB1	10859	broad.mit.edu	37	19	55147060	55147060	+	Splice_Site	SNP	G	G	A			TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chr19:55147060G>A	ENST00000396331.1	+	14	2007	c.1650G>A	c.(1648-1650)cgG>cgA	p.R550R	LILRB1_ENST00000418536.2_Splice_Site_p.R534R|LILRB1_ENST00000396327.3_Splice_Site_p.R551R|LILRB1_ENST00000434867.2_Splice_Site_p.R550R|LILRB1_ENST00000324602.7_Splice_Site_p.R551R|LILRB1_ENST00000396321.2_Splice_Site_p.R550R|LILRB1_ENST00000396315.1_Splice_Site_p.R551R|LILRB1_ENST00000396332.4_Splice_Site_p.R550R|LILRB1_ENST00000462628.1_3'UTR|LILRB1_ENST00000448689.1_3'UTR|LILRB1_ENST00000396317.1_Splice_Site_p.R534R|LILRB1_ENST00000427581.2_Splice_Site_p.R600R	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	550					regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		TGGACACTCGGGTGAGACCCC	0.607										HNSCC(37;0.09)			24	8					0	0	1	0	0	A	55147060	G	A	55147060	5	1	174	1	0	0	0	0	0	0	1	0	8830	1246	43	2	1699	2	LILRB1	19	55147060	Splice_Site	SNP	G	TCGA-E1-A7YS-01A-11D-A34A-08	52118257	55147060	3981923	59	23950											
TGM2	7052	broad.mit.edu	37	20	36768010	36768010	+	Silent	SNP	G	G	A			TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chr20:36768010G>A	ENST00000361475.2	-	9	1319	c.1146C>T	c.(1144-1146)ggC>ggT	p.G382G	TGM2_ENST00000536724.1_Silent_p.G322G|TGM2_ENST00000536701.1_Silent_p.G301G	NM_004613.2|NM_198951.1	NP_004604.2|NP_945189.1	P21980	TGM2_HUMAN	transglutaminase 2	382					apoptotic cell clearance|peptide cross-linking|positive regulation of cell adhesion		acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity	p.G382G(1)		endometrium(2)|large_intestine(11)|liver(1)|lung(7)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Myeloproliferative disorder(115;0.00878)			L-Glutamine(DB00130)	TGCTCAGGTCGCCCTCCTTGA	0.587													25	17					0	0	1	0	0	A	36768010	G	A	36768010	2	1	174	1	0	0	0	0	0	0	0	1	15890	1074	38	1		1	TGM2	20	36768010	Silent	SNP	G	TCGA-E1-A7YS-01A-11D-A34A-08		36768010	26257510	60	23951											
TSHZ2	128553	broad.mit.edu	37	20	51871432	51871432	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chr20:51871432G>A	ENST00000371497.5	+	2	2322	c.1435G>A	c.(1435-1437)Gtg>Atg	p.V479M	TSHZ2_ENST00000329613.6_Missense_Mutation_p.V476M|TSHZ2_ENST00000603338.2_Missense_Mutation_p.V476M	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	479					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			TGAGAAAGTCGTGAAAAGCGA	0.413													7	75					0	0	1	0	0	A	51871432	G	A	51871432	3	1	174	1	0	0	0	0	1	0	0	0	16685	1145	40	1	1441	1	TSHZ2	20	51871432	Missense_Mutation	SNP	G	TCGA-E1-A7YS-01A-11D-A34A-08	15103422	51871432	11154088	61	23952											
TRMT2B	79979	broad.mit.edu	37	X	100278580	100278580	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chrX:100278580G>A	ENST00000338687.7	-	7	1305	c.500C>T	c.(499-501)tCt>tTt	p.S167F	TRMT2B_ENST00000372939.1_Missense_Mutation_p.S167F|TRMT2B_ENST00000372931.5_Missense_Mutation_p.S212F|TRMT2B_ENST00000545398.1_Missense_Mutation_p.S212F|TRMT2B_ENST00000478422.1_5'UTR|TRMT2B_ENST00000372935.1_Missense_Mutation_p.S212F|TRMT2B_ENST00000372936.3_Missense_Mutation_p.S212F			Q96GJ1	TRM2_HUMAN	tRNA methyltransferase 2 homolog B (S. cerevisiae)	212							tRNA (uracil-5-)-methyltransferase activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	24						CTCCAATGGAGACTGTCGAAG	0.448													38	6					0	0	1	0	0	A	100278580	G	A	100278580	3	1	174	1	0	0	0	0	1	0	0	0	16627	942	33	2	907	2	TRMT2B	23	100278580	Missense_Mutation	SNP	G	TCGA-E1-A7YS-01A-11D-A34A-08		100278580	54991980	62	23953											
SAGE1	55511	broad.mit.edu	37	X	134991047	134991047	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chrX:134991047G>A	ENST00000535938.1	+	13	1633	c.1466G>A	c.(1465-1467)cGt>cAt	p.R489H	SAGE1_ENST00000537770.1_Intron|SAGE1_ENST00000370709.3_Missense_Mutation_p.R489H|SAGE1_ENST00000324447.3_Missense_Mutation_p.R489H	NM_018666.2	NP_061136.2	Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	489										breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55	Acute lymphoblastic leukemia(192;0.000127)					CACAGTGTTCGTGAAGAGAAG	0.463													49	3					0	0	1	0	0	A	134991047	G	A	134991047	3	1	174	1	0	0	0	0	1	0	0	0	13861	1145	40	1	1512	1	SAGE1	23	134991047	Missense_Mutation	SNP	G	TCGA-E1-A7YS-01A-11D-A34A-08	34712467	134991047	20279513	63	23954											
VPS13D	55187	broad.mit.edu	37	1	12438636	12438636	+	Missense_Mutation	SNP	C	C	G			TCGA-E1-A7YU-01A-11D-A34J-08	TCGA-E1-A7YU-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d2260a1-7f2d-46b5-8225-4753867be40e	c09de9de-46ce-4b9a-b1e0-75192aa8bd44	g.chr1:12438636C>G	ENST00000358136.3	+	56	11202	c.11072C>G	c.(11071-11073)aCt>aGt	p.T3691S	VPS13D_ENST00000356315.4_Missense_Mutation_p.T3666S|VPS13D_ENST00000496628.1_3'UTR	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	3690					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		GCTGCAGTGACTGACAACAGG	0.453													6	53					0	0	1	0	0	G	12438636	C	G	12438636	3	3	175	1	0	0	0	0	1	0	0	0	17252	565	20	4	11290	4	VPS13D	1	12438636	Missense_Mutation	SNP	C	TCGA-E1-A7YU-01A-11D-A34J-08		12438636	236811985	1	23955											
EDEM3	80267	broad.mit.edu	37	1	184692991	184692991	+	Splice_Site	SNP	C	C	T			TCGA-E1-A7YU-01A-11D-A34J-08	TCGA-E1-A7YU-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d2260a1-7f2d-46b5-8225-4753867be40e	c09de9de-46ce-4b9a-b1e0-75192aa8bd44	g.chr1:184692991C>T	ENST00000318130.8	-	8	1014		c.e8-1		EDEM3_ENST00000367512.3_Splice_Site	NM_025191.3	NP_079467.3	Q9BZQ6	EDEM3_HUMAN	ER degradation enhancer, mannosidase alpha-like 3						post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						TGGCATATTCCTGTAATTTaa	0.328													21	58					0	0	1	0	0	T	184692991	C	T	184692991	5	4	175	1	0	0	0	0	0	0	1	0	4939	695	24	2	2103	2	EDEM3	1	184692991	Splice_Site	SNP	C	TCGA-E1-A7YU-01A-11D-A34J-08	172254355	184692991	64557630	2	23956											
URB2	9816	broad.mit.edu	37	1	229794937	229794937	+	Missense_Mutation	SNP	C	C	T	rs114573548	by1000genomes	TCGA-E1-A7YU-01A-11D-A34J-08	TCGA-E1-A7YU-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d2260a1-7f2d-46b5-8225-4753867be40e	c09de9de-46ce-4b9a-b1e0-75192aa8bd44	g.chr1:229794937C>T	ENST00000258243.2	+	10	4604	c.4468C>T	c.(4468-4470)Cgg>Tgg	p.R1490W		NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	1490						nucleolus				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						CCAGTTCCTGCGGGCCTCGCT	0.493													4	203					0	0	1	0	0	T	229794937	C	T	229794937	3	4	175	1	0	0	0	0	1	0	0	0	17085	759	27	1	4502	1	URB2	1	229794937	Missense_Mutation	SNP	C	TCGA-E1-A7YU-01A-11D-A34J-08	45101946	229794937	19455684	3	23957											
SF3B1	23451	broad.mit.edu	37	2	198267707	198267707	+	Missense_Mutation	SNP	A	A	T			TCGA-E1-A7YU-01A-11D-A34J-08	TCGA-E1-A7YU-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d2260a1-7f2d-46b5-8225-4753867be40e	c09de9de-46ce-4b9a-b1e0-75192aa8bd44	g.chr2:198267707A>T	ENST00000335508.6	-	13	1863	c.1772T>A	c.(1771-1773)gTg>gAg	p.V591E		NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa						nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding			NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			TCGGCCTTCCACTCTAGCATA	0.328			Mis		myelodysplastic syndrome								19	51					0	0	1	0	0	T	198267707	A	T	198267707	3	4	175	1	0	0	0	0	1	0	0	0	14203	159	6	5	2194	5	SF3B1	2	198267707	Missense_Mutation	SNP	A	TCGA-E1-A7YU-01A-11D-A34J-08		198267707	44931666	4	23958											
CPO	130749	broad.mit.edu	37	2	207823121	207823121	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YU-01A-11D-A34J-08	TCGA-E1-A7YU-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d2260a1-7f2d-46b5-8225-4753867be40e	c09de9de-46ce-4b9a-b1e0-75192aa8bd44	g.chr2:207823121G>A	ENST00000272852.3	+	4	410	c.364G>A	c.(364-366)Gtc>Atc	p.V122I		NM_173077.2	NP_775100.1	Q8IVL8	CBPO_HUMAN	carboxypeptidase O	122					proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	14				LUSC - Lung squamous cell carcinoma(261;0.0744)|Epithelial(149;0.0807)|Lung(261;0.142)		CCAATGGTTCGTCAAAGAAGT	0.428													21	100					0	0	1	0	0	A	207823121	G	A	207823121	3	1	175	1	0	0	0	0	1	0	0	0	3843	1145	40	1	378	1	CPO	2	207823121	Missense_Mutation	SNP	G	TCGA-E1-A7YU-01A-11D-A34J-08	9555414	207823121	35376252	5	23959											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-E1-A7YU-01A-11D-A34J-08	TCGA-E1-A7YU-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d2260a1-7f2d-46b5-8225-4753867be40e	c09de9de-46ce-4b9a-b1e0-75192aa8bd44	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								27	65					0	0	1	0	0	T	209113112	C	T	209113112	3	4	175	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-E1-A7YU-01A-11D-A34J-08	1289991	209113112	34086261	6	23960											
COL7A1	1294	broad.mit.edu	37	3	48618030	48618030	+	Missense_Mutation	SNP	C	C	G			TCGA-E1-A7YU-01A-11D-A34J-08	TCGA-E1-A7YU-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d2260a1-7f2d-46b5-8225-4753867be40e	c09de9de-46ce-4b9a-b1e0-75192aa8bd44	g.chr3:48618030C>G	ENST00000328333.8	-	54	5143	c.5036G>C	c.(5035-5037)gGa>gCa	p.G1679A	COL7A1_ENST00000454817.1_Missense_Mutation_p.G1679A	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	1679	Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TCCATCCTCTCCAGGATCTCC	0.567													3	36					0	0	1	0	0	G	48618030	C	G	48618030	3	3	175	1	0	0	0	0	1	0	0	0	3727	855	30	5	4058	5	COL7A1	3	48618030	Missense_Mutation	SNP	C	TCGA-E1-A7YU-01A-11D-A34J-08		48618030	149404400	7	23961											
DZIP3	9666	broad.mit.edu	37	3	108335404	108335404	+	Missense_Mutation	SNP	A	A	G			TCGA-E1-A7YU-01A-11D-A34J-08	TCGA-E1-A7YU-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d2260a1-7f2d-46b5-8225-4753867be40e	c09de9de-46ce-4b9a-b1e0-75192aa8bd44	g.chr3:108335404A>G	ENST00000361582.3	+	5	505	c.275A>G	c.(274-276)aAc>aGc	p.N92S	DZIP3_ENST00000463306.1_Missense_Mutation_p.N92S	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN	DAZ interacting zinc finger protein 3	92					protein polyubiquitination	cytoplasm	polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						GTTGCAGCTAACAGCCAGAAT	0.353													30	94					0	0	1	0	0	G	108335404	A	G	108335404	3	3	175	1	0	0	0	0	1	0	0	0	4891	43	2	3	289	3	DZIP3	3	108335404	Missense_Mutation	SNP	A	TCGA-E1-A7YU-01A-11D-A34J-08	59717374	108335404	89687026	8	23962											
WDR49	151790	broad.mit.edu	37	3	167322149	167322149	+	Missense_Mutation	SNP	A	A	G			TCGA-E1-A7YU-01A-11D-A34J-08	TCGA-E1-A7YU-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d2260a1-7f2d-46b5-8225-4753867be40e	c09de9de-46ce-4b9a-b1e0-75192aa8bd44	g.chr3:167322149A>G	ENST00000308378.3	-	2	348	c.43T>C	c.(43-45)Tcc>Ccc	p.S15P	WDR49_ENST00000479765.1_Missense_Mutation_p.S356P|WDR49_ENST00000453925.2_Missense_Mutation_p.S68P	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN	WD repeat domain 49	15										breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						ATGTTGAAGGATGTCATATTA	0.378													20	37					0	0	1	0	0	G	167322149	A	G	167322149	3	3	175	1	0	0	0	0	1	0	0	0	17362	333	12	3	2106	3	WDR49	3	167322149	Missense_Mutation	SNP	A	TCGA-E1-A7YU-01A-11D-A34J-08	58986745	167322149	30700281	9	23963											
CCDC158	339965	broad.mit.edu	37	4	77290583	77290583	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YU-01A-11D-A34J-08	TCGA-E1-A7YU-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d2260a1-7f2d-46b5-8225-4753867be40e	c09de9de-46ce-4b9a-b1e0-75192aa8bd44	g.chr4:77290583C>T	ENST00000388914.3	-	10	1495	c.1343G>A	c.(1342-1344)cGg>cAg	p.R448Q		NM_001042784.1	NP_001036249.1	Q5M9N0	CD158_HUMAN	coiled-coil domain containing 158	448										breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						ACTGACCTGCCGCTCCATCTG	0.512													4	37					0	0	1	0	0	T	77290583	C	T	77290583	3	4	175	1	0	0	0	0	1	0	0	0	2809	652	23	1	2058	1	CCDC158	4	77290583	Missense_Mutation	SNP	C	TCGA-E1-A7YU-01A-11D-A34J-08		77290583	113863693	10	23964											
PCDHA6	56142	broad.mit.edu	37	5	140207760	140207760	+	Silent	SNP	C	C	T			TCGA-E1-A7YU-01A-11D-A34J-08	TCGA-E1-A7YU-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d2260a1-7f2d-46b5-8225-4753867be40e	c09de9de-46ce-4b9a-b1e0-75192aa8bd44	g.chr5:140207760C>T	ENST00000529310.1	+	1	198	c.84C>T	c.(82-84)agC>agT	p.S28S	PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Silent_p.S28S|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron	NM_018909.2|NM_031848.2|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1														NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGTGGGGAGCGGCCAGCTCC	0.632													51	75					0	0	1	0	0	T	140207760	C	T	140207760	2	4	175	1	0	0	0	0	0	0	0	1	11575	767	27	1		1	PCDHA6	5	140207760	Silent	SNP	C	TCGA-E1-A7YU-01A-11D-A34J-08		140207760	40707500	11	23965											
KDM1B	221656	broad.mit.edu	37	6	18197327	18197327	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YU-01A-11D-A34J-08	TCGA-E1-A7YU-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d2260a1-7f2d-46b5-8225-4753867be40e	c09de9de-46ce-4b9a-b1e0-75192aa8bd44	g.chr6:18197327G>A	ENST00000388870.2	+	11	1250	c.1009G>A	c.(1009-1011)Gtc>Atc	p.V337I	KDM1B_ENST00000546309.2_Intron|KDM1B_ENST00000297792.5_Missense_Mutation_p.V205I|KDM1B_ENST00000397244.1_Missense_Mutation_p.V205I			Q8NB78	KDM1B_HUMAN	lysine (K)-specific demethylase 1B	337	SWIRM.				multicellular organismal development|regulation of DNA methylation|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-monomethyl-K4 specific)|oxidoreductase activity|zinc ion binding			breast(2)|endometrium(5)|large_intestine(6)|lung(8)|skin(3)|upper_aerodigestive_tract(1)	25						TCACATCATCGTCCGGGGTCT	0.413													44	81					0	0	1	0	0	A	18197327	G	A	18197327	3	1	175	1	0	0	0	0	1	0	0	0	8167	1145	40	1	639	1	KDM1B	6	18197327	Missense_Mutation	SNP	G	TCGA-E1-A7YU-01A-11D-A34J-08		18197327	152917740	12	23966											
SYNCRIP	10492	broad.mit.edu	37	6	86324825	86324825	+	Missense_Mutation	SNP	A	A	G			TCGA-E1-A7YU-01A-11D-A34J-08	TCGA-E1-A7YU-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d2260a1-7f2d-46b5-8225-4753867be40e	c09de9de-46ce-4b9a-b1e0-75192aa8bd44	g.chr6:86324825A>G	ENST00000503906.1	-	1	127	c.128T>C	c.(127-129)cTc>cCc	p.L43P	SYNCRIP_ENST00000355238.6_Silent_p.A507A|SYNCRIP_ENST00000369622.3_Silent_p.A507A																							CTCTGGATGGAGCAGCACCCC	0.542													20	73					0	0	1	0	0	G	86324825	A	G	86324825	3	3	175	1	0	0	0	0	1	0	0	0	15501	291	11	3	400	3	SYNCRIP	6	86324825	Missense_Mutation	SNP	A	TCGA-E1-A7YU-01A-11D-A34J-08	68127498	86324825	84790242	13	23967											
SPAM1	6677	broad.mit.edu	37	7	123595133	123595133	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YU-01A-11D-A34J-08	TCGA-E1-A7YU-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d2260a1-7f2d-46b5-8225-4753867be40e	c09de9de-46ce-4b9a-b1e0-75192aa8bd44	g.chr7:123595133G>A	ENST00000340011.5	+	4	1394	c.1037G>A	c.(1036-1038)cGa>cAa	p.R346Q	SPAM1_ENST00000460182.1_Missense_Mutation_p.R346Q|SPAM1_ENST00000402183.2_Missense_Mutation_p.R346Q|SPAM1_ENST00000439500.1_Missense_Mutation_p.R346Q|SPAM1_ENST00000223028.7_Missense_Mutation_p.R346Q	NM_003117.4	NP_003108.2	P38567	HYALP_HUMAN	sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding)	346					binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane	anchored to membrane|plasma membrane	hyalurononglucosaminidase activity	p.R346Q(2)		breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46					Hyaluronidase(DB00070)	AGTATAATGCGAAGTATGGTA	0.338													44	79					0	0	1	0	0	A	123595133	G	A	123595133	3	1	175	1	0	0	0	0	1	0	0	0	15042	1058	37	1	1043	1	SPAM1	7	123595133	Missense_Mutation	SNP	G	TCGA-E1-A7YU-01A-11D-A34J-08		123595133	35543530	14	23968											
CHRNB3	1142	broad.mit.edu	37	8	42586901	42586901	+	Missense_Mutation	SNP	A	A	T			TCGA-E1-A7YU-01A-11D-A34J-08	TCGA-E1-A7YU-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d2260a1-7f2d-46b5-8225-4753867be40e	c09de9de-46ce-4b9a-b1e0-75192aa8bd44	g.chr8:42586901A>T	ENST00000289957.2	+	5	579	c.451A>T	c.(451-453)Agc>Tgc	p.S151C		NM_000749.3	NP_000740.1	Q05901	ACHB3_HUMAN	cholinergic receptor, nicotinic, beta 3 (neuronal)	151					synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity			endometrium(4)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25	all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869)			CAGCTACAAAAGCTCCTGCAC	0.532													17	24					0	0	1	0	0	T	42586901	A	T	42586901	3	4	175	1	0	0	0	0	1	0	0	0	3414	72	3	5	469	5	CHRNB3	8	42586901	Missense_Mutation	SNP	A	TCGA-E1-A7YU-01A-11D-A34J-08		42586901	103777121	15	23969											
TBC1D2	55357	broad.mit.edu	37	9	101017533	101017533	+	Missense_Mutation	SNP	A	A	C			TCGA-E1-A7YU-01A-11D-A34J-08	TCGA-E1-A7YU-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d2260a1-7f2d-46b5-8225-4753867be40e	c09de9de-46ce-4b9a-b1e0-75192aa8bd44	g.chr9:101017533A>C	ENST00000375066.5	-	1	382	c.291T>G	c.(289-291)agT>agG	p.S97R	TBC1D2_ENST00000375064.1_Missense_Mutation_p.S97R|TBC1D2_ENST00000342112.5_5'UTR	NM_018421.3	NP_060891.3	Q9BYX2	TBD2A_HUMAN	TBC1 domain family, member 2	97	Interaction with CADH1.|PH.					cell junction|cytoplasmic membrane-bounded vesicle|nucleus	Rab GTPase activator activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)		CAAACACTGCACTGGAGAGGT	0.522													25	57					0	0	1	0	0	C	101017533	A	C	101017533	3	2	175	1	0	0	0	0	1	0	0	0	15665	156	6	5	2514	5	TBC1D2	9	101017533	Missense_Mutation	SNP	A	TCGA-E1-A7YU-01A-11D-A34J-08		101017533	40195898	16	23970											
ZNF485	220992	broad.mit.edu	37	10	44112009	44112009	+	Missense_Mutation	SNP	T	T	C			TCGA-E1-A7YU-01A-11D-A34J-08	TCGA-E1-A7YU-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d2260a1-7f2d-46b5-8225-4753867be40e	c09de9de-46ce-4b9a-b1e0-75192aa8bd44	g.chr10:44112009T>C	ENST00000361807.3	+	5	712	c.518T>C	c.(517-519)cTt>cCt	p.L173P	ZNF485_ENST00000374435.3_Missense_Mutation_p.L173P|ZNF485_ENST00000374437.2_Missense_Mutation_p.L82P	NM_145312.3	NP_660355.2	Q8NCK3	ZN485_HUMAN	zinc finger protein 485	173					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16						AGTTCATCCCTTTTAAATCAC	0.388													3	89					0	0	1	0	0	C	44112009	T	C	44112009	3	2	175	1	0	0	0	0	1	0	0	0	17995	1609	56	3	532	3	ZNF485	10	44112009	Missense_Mutation	SNP	T	TCGA-E1-A7YU-01A-11D-A34J-08		44112009	91422738	17	23971											
TLL2	7093	broad.mit.edu	37	10	98138802	98138802	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YU-01A-11D-A34J-08	TCGA-E1-A7YU-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d2260a1-7f2d-46b5-8225-4753867be40e	c09de9de-46ce-4b9a-b1e0-75192aa8bd44	g.chr10:98138802C>T	ENST00000357947.3	-	17	2467	c.2242G>A	c.(2242-2244)Gtc>Atc	p.V748I		NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN	tolloid-like 2	748	EGF-like 2; calcium-binding (Potential).				cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		AAGGTGTTGACGCACTCATGC	0.552													32	110					0	0	1	0	0	T	98138802	C	T	98138802	3	4	175	1	0	0	0	0	1	0	0	0	16006	536	19	1	825	1	TLL2	10	98138802	Missense_Mutation	SNP	C	TCGA-E1-A7YU-01A-11D-A34J-08	54026793	98138802	37395945	18	23972											
LDHC	3948	broad.mit.edu	37	11	18456322	18456322	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YU-01A-11D-A34J-08	TCGA-E1-A7YU-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d2260a1-7f2d-46b5-8225-4753867be40e	c09de9de-46ce-4b9a-b1e0-75192aa8bd44	g.chr11:18456322G>A	ENST00000541669.1	+	5	565	c.454G>A	c.(454-456)Ggc>Agc	p.G152S	LDHC_ENST00000546146.1_Missense_Mutation_p.G94S|LDHC_ENST00000536880.1_Missense_Mutation_p.G138S|LDHC_ENST00000544105.1_Missense_Mutation_p.G152S|LDHC_ENST00000535809.1_Missense_Mutation_p.G152S|LDHC_ENST00000537486.1_Intron|LDHC_ENST00000280704.4_Missense_Mutation_p.G152S			P07864	LDHC_HUMAN	lactate dehydrogenase C	152					glycolysis	cytoplasm	binding|L-lactate dehydrogenase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24					NADH(DB00157)	GAAGATAAGTGGCTTACCTGT	0.353													34	115					0	0	1	0	0	A	18456322	G	A	18456322	3	1	175	1	0	0	0	0	1	0	0	0	8741	1348	47	2	468	2	LDHC	11	18456322	Missense_Mutation	SNP	G	TCGA-E1-A7YU-01A-11D-A34J-08		18456322	116550194	19	23973											
POLA2	23649	broad.mit.edu	37	11	65063367	65063367	+	Missense_Mutation	SNP	T	T	C			TCGA-E1-A7YU-01A-11D-A34J-08	TCGA-E1-A7YU-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d2260a1-7f2d-46b5-8225-4753867be40e	c09de9de-46ce-4b9a-b1e0-75192aa8bd44	g.chr11:65063367T>C	ENST00000265465.3	+	17	2084	c.1553T>C	c.(1552-1554)aTg>aCg	p.M518T	POLA2_ENST00000541089.1_Missense_Mutation_p.M310T|POLA2_ENST00000534785.1_Intron	NM_002689.2	NP_002680.2	Q14181	DPOA2_HUMAN	polymerase (DNA directed), alpha 2, accessory subunit	518					DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	nucleoplasm	DNA binding			endometrium(1)|large_intestine(2)|lung(7)|urinary_tract(1)	11					Dacarbazine(DB00851)	CAAGAAGACATGGCCATTGAC	0.547													32	80					0	0	1	0	0	C	65063367	T	C	65063367	3	2	175	1	0	0	0	0	1	0	0	0	12236	1464	51	3	1619	3	POLA2	11	65063367	Missense_Mutation	SNP	T	TCGA-E1-A7YU-01A-11D-A34J-08	46607045	65063367	69943149	20	23974											
CASC5	57082	broad.mit.edu	37	15	40913870	40913870	+	Missense_Mutation	SNP	T	T	C			TCGA-E1-A7YU-01A-11D-A34J-08	TCGA-E1-A7YU-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d2260a1-7f2d-46b5-8225-4753867be40e	c09de9de-46ce-4b9a-b1e0-75192aa8bd44	g.chr15:40913870T>C	ENST00000346991.5	+	11	1876	c.1486T>C	c.(1486-1488)Tct>Cct	p.S496P	CASC5_ENST00000399668.2_Missense_Mutation_p.S470P|CASC5_ENST00000527044.1_3'UTR			Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5	496	Interaction with BUB1 and BUB1B.				acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint	acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding			NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		AGATGCTATGTCTTCTCTCAC	0.338													32	35					0	0	1	0	0	C	40913870	T	C	40913870	3	2	175	1	0	0	0	0	1	0	0	0	2681	1667	58	3	1524	3	CASC5	15	40913870	Missense_Mutation	SNP	T	TCGA-E1-A7YU-01A-11D-A34J-08		40913870	61617522	21	23975											
MPG	4350	broad.mit.edu	37	16	133122	133122	+	Silent	SNP	G	G	T			TCGA-E1-A7YU-01A-11D-A34J-08	TCGA-E1-A7YU-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d2260a1-7f2d-46b5-8225-4753867be40e	c09de9de-46ce-4b9a-b1e0-75192aa8bd44	g.chr16:133122G>T	ENST00000219431.4	+	4	618	c.387G>T	c.(385-387)ggG>ggT	p.G129G	MPG_ENST00000397817.1_Silent_p.G112G	NM_002434.3	NP_002425.2	P29372	3MG_HUMAN	N-methylpurine-DNA glycosylase	129					depurination|DNA dealkylation involved in DNA repair	nucleoplasm	alkylbase DNA N-glycosylase activity|damaged DNA binding|identical protein binding			endometrium(4)|kidney(1)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9		all_cancers(16;9.01e-08)|all_epithelial(16;7.64e-07)|Hepatocellular(780;0.000325)|Lung NSC(18;0.0104)|all_lung(18;0.0239)				CATACCTGGGGCCAGAGGATG	0.622								Base excision repair (BER), DNA glycosylases					65	119					1.33661e-31	1.40696e-31	1	1	0	T	133122	G	T	133122	2	4	175	1	0	0	0	0	0	0	0	1	9773	1190	42	5		5	MPG	16	133122	Silent	SNP	G	TCGA-E1-A7YU-01A-11D-A34J-08		133122	90221631	22	23976											
SLC12A3	6559	broad.mit.edu	37	16	56921912	56921912	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YU-01A-11D-A34J-08	TCGA-E1-A7YU-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d2260a1-7f2d-46b5-8225-4753867be40e	c09de9de-46ce-4b9a-b1e0-75192aa8bd44	g.chr16:56921912G>A	ENST00000438926.2	+	18	2283	c.2254G>A	c.(2254-2256)Gcc>Acc	p.A752T	SLC12A3_ENST00000566786.1_Missense_Mutation_p.A751T|SLC12A3_ENST00000563236.1_Missense_Mutation_p.A752T|SLC12A3_ENST00000262502.5_Missense_Mutation_p.A751T	NM_000339.2|NM_001126107.1|NM_001126108.1	NP_000330|NP_001119579.1|NP_001119580.1	P55017	S12A3_HUMAN	solute carrier family 12 (sodium/chloride transporter), member 3	752					sodium ion transmembrane transport	apical plasma membrane|integral to plasma membrane|membrane fraction	sodium:chloride symporter activity			breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	GGCTCACCCGGCCACAGTGGA	0.577													3	48					0	0	1	0	0	A	56921912	G	A	56921912	3	1	175	1	0	0	0	0	1	0	0	0	14439	1203	42	2	2324	2	SLC12A3	16	56921912	Missense_Mutation	SNP	G	TCGA-E1-A7YU-01A-11D-A34J-08	56788790	56921912	33432841	23	23977											
TP53	7157	broad.mit.edu	37	17	7577094	7577094	+	Missense_Mutation	SNP	G	G	A	rs28934574		TCGA-E1-A7YU-01A-11D-A34J-08	TCGA-E1-A7YU-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d2260a1-7f2d-46b5-8225-4753867be40e	c09de9de-46ce-4b9a-b1e0-75192aa8bd44	g.chr17:7577094G>A	ENST00000420246.2	-	8	976	c.844C>T	c.(844-846)Cgg>Tgg	p.R282W	TP53_ENST00000269305.4_Missense_Mutation_p.R282W|TP53_ENST00000455263.2_Missense_Mutation_p.R282W|TP53_ENST00000359597.4_Missense_Mutation_p.R282W|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.R282W	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	282	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		DR -> EW (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934574).		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.R282W(401)|p.R282G(29)|p.0?(8)|p.R282fs*24(4)|p.R282R(3)|p.?(2)|p.D281fs*63(2)|p.D281_R282>EW(2)|p.A276_R283delACPGRDRR(1)|p.D281_R282insXX(1)|p.C275fs*20(1)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.D281_R282delDR(1)|p.G279fs*59(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.R282fs*63(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(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)		TCTGTGCGCCGGTCTCTCCCA	0.557		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)			24	13					0	0	1	0	0	A	7577094	G	A	7577094	3	1	175	1	0	0	0	0	1	0	0	0	16442	1115	39	1	442	1	TP53	17	7577094	Missense_Mutation	SNP	G	TCGA-E1-A7YU-01A-11D-A34J-08		7577094	73618116	24	23978											
PSMB3	5691	broad.mit.edu	37	17	36912146	36912146	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YU-01A-11D-A34J-08	TCGA-E1-A7YU-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d2260a1-7f2d-46b5-8225-4753867be40e	c09de9de-46ce-4b9a-b1e0-75192aa8bd44	g.chr17:36912146C>T	ENST00000225426.4	+	3	290	c.199C>T	c.(199-201)Ctc>Ttc	p.L67F		NM_002795.2	NP_002786.2	P49720	PSB3_HUMAN	proteasome (prosome, macropain) subunit, beta type, 3	67					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex	protein binding|threonine-type endopeptidase activity			endometrium(2)|large_intestine(1)|lung(1)	4						TGCCCAGCGCCTCAAGTTCCG	0.473													5	40					0	0	1	0	0	T	36912146	C	T	36912146	3	4	175	1	0	0	0	0	1	0	0	0	12727	681	24	2	209	2	PSMB3	17	36912146	Missense_Mutation	SNP	C	TCGA-E1-A7YU-01A-11D-A34J-08	29335052	36912146	44283064	25	23979											
CALCOCO2	10241	broad.mit.edu	37	17	46919111	46919111	+	Silent	SNP	G	G	A			TCGA-E1-A7YU-01A-11D-A34J-08	TCGA-E1-A7YU-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d2260a1-7f2d-46b5-8225-4753867be40e	c09de9de-46ce-4b9a-b1e0-75192aa8bd44	g.chr17:46919111G>A	ENST00000258947.3	+	2	143	c.42G>A	c.(40-42)ttG>ttA	p.L14L	CALCOCO2_ENST00000509507.1_Silent_p.L14L|CALCOCO2_ENST00000416445.2_Silent_p.L14L|CALCOCO2_ENST00000448105.2_Silent_p.L14L|CALCOCO2_ENST00000508679.1_Intron	NM_001261390.1|NM_001261391.1|NM_001261393.1|NM_001261395.1|NM_005831.4	NP_001248319.1|NP_001248320.1|NP_001248322.1|NP_001248324.1|NP_005822.1	Q13137	CACO2_HUMAN	calcium binding and coiled-coil domain 2	14					response to interferon-gamma|viral reproduction	cytoskeleton|Golgi apparatus|nucleus|perinuclear region of cytoplasm|soluble fraction	protein homodimerization activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	15						CAGCTGTCTTGCTGGATCACT	0.468													12	34					0	0	1	0	0	A	46919111	G	A	46919111	2	1	175	1	0	0	0	0	0	0	0	1	2596	1310	46	2		2	CALCOCO2	17	46919111	Silent	SNP	G	TCGA-E1-A7YU-01A-11D-A34J-08	10006965	46919111	34276099	26	23980											
DSEL	92126	broad.mit.edu	37	18	65178396	65178396	+	Silent	SNP	A	A	C			TCGA-E1-A7YU-01A-11D-A34J-08	TCGA-E1-A7YU-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d2260a1-7f2d-46b5-8225-4753867be40e	c09de9de-46ce-4b9a-b1e0-75192aa8bd44	g.chr18:65178396A>C	ENST00000310045.7	-	2	4953	c.3480T>G	c.(3478-3480)tcT>tcG	p.S1160S	CTD-2541J13.2_ENST00000583493.1_RNA|CTD-2541J13.2_ENST00000581951.1_RNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	1150						integral to membrane	isomerase activity|sulfotransferase activity			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				AACTAGCAGGAGACAAAGGAA	0.378													17	52					0	0	1	0	0	C	65178396	A	C	65178396	2	2	175	1	0	0	0	0	0	0	0	1	4801	291	11	5		5	DSEL	18	65178396	Silent	SNP	A	TCGA-E1-A7YU-01A-11D-A34J-08		65178396	12898852	27	23981											
CC2D1A	54862	broad.mit.edu	37	19	14024100	14024100	+	Silent	SNP	C	C	T			TCGA-E1-A7YU-01A-11D-A34J-08	TCGA-E1-A7YU-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d2260a1-7f2d-46b5-8225-4753867be40e	c09de9de-46ce-4b9a-b1e0-75192aa8bd44	g.chr19:14024100C>T	ENST00000318003.7	+	5	739	c.498C>T	c.(496-498)taC>taT	p.Y166Y	CC2D1A_ENST00000589606.1_Silent_p.Y166Y	NM_017721.4	NP_060191.3	Q6P1N0	C2D1A_HUMAN	coiled-coil and C2 domain containing 1A	166					positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus|plasma membrane	DNA binding|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	27			OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)			TGCGGCGCTACGATCGGGGGC	0.607													10	29					0	0	1	0	0	T	14024100	C	T	14024100	2	4	175	1	0	0	0	0	0	0	0	1	2744	547	19	1		1	CC2D1A	19	14024100	Silent	SNP	C	TCGA-E1-A7YU-01A-11D-A34J-08		14024100	45104883	28	23982											
ZNF99	7652	broad.mit.edu	37	19	22939575	22939575	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YU-01A-11D-A34J-08	TCGA-E1-A7YU-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d2260a1-7f2d-46b5-8225-4753867be40e	c09de9de-46ce-4b9a-b1e0-75192aa8bd44	g.chr19:22939575C>T	ENST00000397104.3	-	7	2595	c.2596G>A	c.(2596-2598)Ggc>Agc	p.G866S						zinc finger protein 99											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				AAAGCTTTGCCACATTCTTCA	0.348													24	44					0	0	1	0	0	T	22939575	C	T	22939575	3	4	175	1	0	0	0	0	1	0	0	0	18246	594	21	2	520	2	ZNF99	19	22939575	Missense_Mutation	SNP	C	TCGA-E1-A7YU-01A-11D-A34J-08	8915475	22939575	36189408	29	23983											
SPAG17	200162	broad.mit.edu	37	1	118558791	118558792	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-E1-A7YV-01A-11D-A34J-08	TCGA-E1-A7YV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a40149d-0c14-4c90-a9a8-ec4f88de1e14	7df6835d-3a88-4ed6-819d-1c1a43804009	g.chr1:118558791_118558792delTT	ENST00000336338.5	-	29	4148_4149	c.4083_4084delAA	c.(4081-4086)aaaagtfs	p.S1362fs		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1362						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		GATGACTGACTTTTGTGACTTT	0.381													31	50	---	---	---	---						-	118558792	TT	-	118558791	7	5	176	1	0	1	0	1	0	0	0	0	15035	1609	56	0	2667	0	SPAG17	1	118558791	Frame_Shift_Del	DEL	TT	TCGA-E1-A7YV-01A-11D-A34J-08		118558791	130691830	1	23984											
AHCTF1	25909	broad.mit.edu	37	1	247013610	247013610	+	Missense_Mutation	SNP	T	T	C			TCGA-E1-A7YV-01A-11D-A34J-08	TCGA-E1-A7YV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a40149d-0c14-4c90-a9a8-ec4f88de1e14	7df6835d-3a88-4ed6-819d-1c1a43804009	g.chr1:247013610T>C	ENST00000366508.1	-	33	5939	c.5803A>G	c.(5803-5805)Agc>Ggc	p.S1935G	AHCTF1_ENST00000326225.3_Missense_Mutation_p.S1909G|AHCTF1_ENST00000470300.1_5'UTR|AHCTF1_ENST00000391829.2_Missense_Mutation_p.S1900G			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	1900	Necessary for nuclear localization (By similarity).				cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport	condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm	DNA binding			NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			ATCATTCTGCTAGGACTTGTT	0.318													47	21					0	0	1	0	0	C	247013610	T	C	247013610	3	2	176	1	0	0	0	0	1	0	0	0	405	1522	53	3	1118	3	AHCTF1	1	247013610	Missense_Mutation	SNP	T	TCGA-E1-A7YV-01A-11D-A34J-08	128454819	247013610	2237011	2	23985											
CAPN13	92291	broad.mit.edu	37	2	31010026	31010026	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YV-01A-11D-A34J-08	TCGA-E1-A7YV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a40149d-0c14-4c90-a9a8-ec4f88de1e14	7df6835d-3a88-4ed6-819d-1c1a43804009	g.chr2:31010026G>A	ENST00000295055.8	-	2	342	c.166C>T	c.(166-168)Cgc>Tgc	p.R56C	CAPN13_ENST00000465960.2_5'UTR|CAPN13_ENST00000534090.2_Missense_Mutation_p.R56C	NM_144575.2	NP_653176.2	Q6MZZ7	CAN13_HUMAN	calpain 13	56	Calpain catalytic.				proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					TTGGAGAGGCGTTTTTCCTGG	0.587													5	8					0	0	1	0	0	A	31010026	G	A	31010026	3	1	176	1	0	0	0	0	1	0	0	0	2644	1145	40	1	1927	1	CAPN13	2	31010026	Missense_Mutation	SNP	G	TCGA-E1-A7YV-01A-11D-A34J-08		31010026	212189347	3	23986											
VIT	5212	broad.mit.edu	37	2	37035830	37035830	+	Missense_Mutation	SNP	C	C	G			TCGA-E1-A7YV-01A-11D-A34J-08	TCGA-E1-A7YV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a40149d-0c14-4c90-a9a8-ec4f88de1e14	7df6835d-3a88-4ed6-819d-1c1a43804009	g.chr2:37035830C>G	ENST00000379242.3	+	15	1907	c.1605C>G	c.(1603-1605)aaC>aaG	p.N535K	VIT_ENST00000401530.1_Missense_Mutation_p.N499K|VIT_ENST00000379241.3_Missense_Mutation_p.N498K|VIT_ENST00000404084.1_Missense_Mutation_p.N472K|VIT_ENST00000389975.3_Missense_Mutation_p.N520K|VIT_ENST00000497382.1_Missense_Mutation_p.N189K	NM_053276.3	NP_444506.2	Q6UXI7	VITRN_HUMAN	vitrin	520	VWFA 2.					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)				TTGTGACCAACCTCACCAAAG	0.577													27	62					0	0	1	0	0	G	37035830	C	G	37035830	3	3	176	1	0	0	0	0	1	0	0	0	17231	506	18	5	1784	5	VIT	2	37035830	Missense_Mutation	SNP	C	TCGA-E1-A7YV-01A-11D-A34J-08	6025804	37035830	206163543	4	23987											
CCDC88A	55704	broad.mit.edu	37	2	55561312	55561312	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YV-01A-11D-A34J-08	TCGA-E1-A7YV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a40149d-0c14-4c90-a9a8-ec4f88de1e14	7df6835d-3a88-4ed6-819d-1c1a43804009	g.chr2:55561312C>T	ENST00000436346.1	-	15	3486	c.2645G>A	c.(2644-2646)cGt>cAt	p.R882H	AC012358.8_ENST00000599475.1_RNA|CCDC88A_ENST00000263630.8_Missense_Mutation_p.R882H|CCDC88A_ENST00000413716.2_Missense_Mutation_p.R882H|AC012358.8_ENST00000594078.1_RNA|AC012358.8_ENST00000608103.1_RNA|CCDC88A_ENST00000336838.6_Missense_Mutation_p.R882H|AC012358.8_ENST00000600219.1_RNA|AC012358.8_ENST00000599352.1_RNA	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A	882					activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade	cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						TTCTTTCAGACGGACACAAGA	0.303													23	46					0	0	1	0	0	T	55561312	C	T	55561312	3	4	176	1	0	0	0	0	1	0	0	0	2883	536	19	1	3042	1	CCDC88A	2	55561312	Missense_Mutation	SNP	C	TCGA-E1-A7YV-01A-11D-A34J-08	18525482	55561312	187638061	5	23988											
TTN	7273	broad.mit.edu	37	2	179419627	179419627	+	Frame_Shift_Del	DEL	C	C	-			TCGA-E1-A7YV-01A-11D-A34J-08	TCGA-E1-A7YV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a40149d-0c14-4c90-a9a8-ec4f88de1e14	7df6835d-3a88-4ed6-819d-1c1a43804009	g.chr2:179419627delC	ENST00000589042.1	-	331	88783	c.88559delG	c.(88558-88560)ggcfs	p.G29520fs	TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Frame_Shift_Del_p.G20580fs|TTN_ENST00000460472.2_Frame_Shift_Del_p.G20455fs|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Frame_Shift_Del_p.G20647fs|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000591111.1_Frame_Shift_Del_p.G27879fs|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Frame_Shift_Del_p.G26952fs|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	27879	Fibronectin type-III 115.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGAGGCTGAGCCCATGGCATT	0.423													12	51	---	---	---	---						-	179419627	C	-	179419627	7	5	176	1	0	1	0	1	0	0	0	0	16797	739	26	0	19548	0	TTN	2	179419627	Frame_Shift_Del	DEL	C	TCGA-E1-A7YV-01A-11D-A34J-08	123858315	179419627	63779746	6	23989											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-E1-A7YV-01A-11D-A34J-08	TCGA-E1-A7YV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a40149d-0c14-4c90-a9a8-ec4f88de1e14	7df6835d-3a88-4ed6-819d-1c1a43804009	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	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								31	79					0	0	1	0	0	T	209113112	C	T	209113112	3	4	176	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-E1-A7YV-01A-11D-A34J-08	29693485	209113112	34086261	7	23990											
TRANK1	9881	broad.mit.edu	37	3	36879945	36879945	+	Missense_Mutation	SNP	T	T	C			TCGA-E1-A7YV-01A-11D-A34J-08	TCGA-E1-A7YV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a40149d-0c14-4c90-a9a8-ec4f88de1e14	7df6835d-3a88-4ed6-819d-1c1a43804009	g.chr3:36879945T>C	ENST00000429976.2	-	19	5550	c.5303A>G	c.(5302-5304)aAa>aGa	p.K1768R	TRANK1_ENST00000428977.2_Missense_Mutation_p.K1218R|TRANK1_ENST00000301807.6_Missense_Mutation_p.K1218R	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	1768					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						TGTTGGCTCTTTGCACTCCAA	0.483													24	32					0	0	1	0	0	C	36879945	T	C	36879945	3	2	176	1	0	0	0	0	1	0	0	0	16515	1841	64	3	3494	3	TRANK1	3	36879945	Missense_Mutation	SNP	T	TCGA-E1-A7YV-01A-11D-A34J-08		36879945	161142485	8	23991											
TBL1XR1	79718	broad.mit.edu	37	3	176752004	176752004	+	Missense_Mutation	SNP	G	G	C			TCGA-E1-A7YV-01A-11D-A34J-08	TCGA-E1-A7YV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a40149d-0c14-4c90-a9a8-ec4f88de1e14	7df6835d-3a88-4ed6-819d-1c1a43804009	g.chr3:176752004G>C	ENST00000430069.1	-	13	1491	c.1232C>G	c.(1231-1233)gCc>gGc	p.A411G	TBL1XR1_ENST00000457928.2_Missense_Mutation_p.A411G			Q9BZK7	TBL1R_HUMAN	transducin (beta)-like 1 X-linked receptor 1	411					canonical Wnt receptor signaling pathway|cellular lipid metabolic process|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|proteasomal ubiquitin-dependent protein catabolic process|transcription, DNA-dependent	spindle microtubule|transcriptional repressor complex	beta-catenin binding|histone binding|protein N-terminus binding|transcription corepressor activity|transcription regulatory region DNA binding			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(7)|liver(1)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(143;1.44e-17)|Ovarian(172;0.00163)|Breast(254;0.214)	Acute lymphoblastic leukemia(1;0.00599)|all_hematologic(1;0.0632)|Prostate(884;0.215)	OV - Ovarian serous cystadenocarcinoma(80;9.83e-31)			CATAAGGTTGGCATTTGGATT	0.343													12	49					0	0	1	0	0	C	176752004	G	C	176752004	3	2	176	1	0	0	0	0	1	0	0	0	15700	1203	42	5	328	5	TBL1XR1	3	176752004	Missense_Mutation	SNP	G	TCGA-E1-A7YV-01A-11D-A34J-08	139872059	176752004	21270426	9	23992											
UGT2B4	7363	broad.mit.edu	37	4	70355278	70355278	+	Missense_Mutation	SNP	T	T	A			TCGA-E1-A7YV-01A-11D-A34J-08	TCGA-E1-A7YV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a40149d-0c14-4c90-a9a8-ec4f88de1e14	7df6835d-3a88-4ed6-819d-1c1a43804009	g.chr4:70355278T>A	ENST00000305107.6	-	3	927	c.881A>T	c.(880-882)gAg>gTg	p.E294V	UGT2B4_ENST00000381096.3_Missense_Mutation_p.E158V|UGT2B4_ENST00000512583.1_Missense_Mutation_p.E294V|UGT2B4_ENST00000506580.1_5'UTR	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B4	294					estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47						CTGGACAAACTCTTCCATTTC	0.383													32	167					0	0	1	0	0	A	70355278	T	A	70355278	3	1	176	1	0	0	0	0	1	0	0	0	17021	1551	54	5	721	5	UGT2B4	4	70355278	Missense_Mutation	SNP	T	TCGA-E1-A7YV-01A-11D-A34J-08		70355278	120798998	10	23993											
AFM	173	broad.mit.edu	37	4	74351580	74351580	+	Splice_Site	SNP	A	A	T			TCGA-E1-A7YV-01A-11D-A34J-08	TCGA-E1-A7YV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a40149d-0c14-4c90-a9a8-ec4f88de1e14	7df6835d-3a88-4ed6-819d-1c1a43804009	g.chr4:74351580A>T	ENST00000226355.3	+	4	365	c.272A>T	c.(271-273)aAt>aTt	p.N91I		NM_001133.2	NP_001124.1	P43652	AFAM_HUMAN	afamin	91	Albumin 1.				vitamin transport		vitamin E binding			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	Breast(15;0.00102)		Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GTTGTATAGAATAATGTTTTA	0.368													17	32					0	0	1	0	0	T	74351580	A	T	74351580	5	4	176	1	0	0	0	0	0	0	1	0	360	115	4	4	286	4	AFM	4	74351580	Splice_Site	SNP	A	TCGA-E1-A7YV-01A-11D-A34J-08	3996302	74351580	116802696	11	23994											
TRIML1	339976	broad.mit.edu	37	4	189060990	189060990	+	Missense_Mutation	SNP	G	G	T			TCGA-E1-A7YV-01A-11D-A34J-08	TCGA-E1-A7YV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a40149d-0c14-4c90-a9a8-ec4f88de1e14	7df6835d-3a88-4ed6-819d-1c1a43804009	g.chr4:189060990G>T	ENST00000332517.3	+	1	418	c.278G>T	c.(277-279)gGc>gTc	p.G93V		NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	93					multicellular organismal development		ligase activity|zinc ion binding			NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		GATGAGCAGGGCAGCTACGGG	0.642													22	29					5.26018e-13	6.17059e-13	1	1	0	T	189060990	G	T	189060990	3	4	176	1	0	0	0	0	1	0	0	0	16611	1203	42	5	280	5	TRIML1	4	189060990	Missense_Mutation	SNP	G	TCGA-E1-A7YV-01A-11D-A34J-08	114709410	189060990	2093286	12	23995											
HCN1	348980	broad.mit.edu	37	5	45645301	45645301	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YV-01A-11D-A34J-08	TCGA-E1-A7YV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a40149d-0c14-4c90-a9a8-ec4f88de1e14	7df6835d-3a88-4ed6-819d-1c1a43804009	g.chr5:45645301G>A	ENST00000303230.4	-	2	892	c.835C>T	c.(835-837)Cat>Tat	p.H279Y		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	279						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						TCCCATTGATGTATGTATCTA	0.333													19	27					0	0	1	0	0	A	45645301	G	A	45645301	3	1	176	1	0	0	0	0	1	0	0	0	7037	1377	48	2	1865	2	HCN1	5	45645301	Missense_Mutation	SNP	G	TCGA-E1-A7YV-01A-11D-A34J-08		45645301	135269959	13	23996											
PAM	5066	broad.mit.edu	37	5	102295742	102295742	+	Missense_Mutation	SNP	A	A	C			TCGA-E1-A7YV-01A-11D-A34J-08	TCGA-E1-A7YV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a40149d-0c14-4c90-a9a8-ec4f88de1e14	7df6835d-3a88-4ed6-819d-1c1a43804009	g.chr5:102295742A>C	ENST00000438793.3	+	12	1539	c.1069A>C	c.(1069-1071)Atg>Ctg	p.M357L	PAM_ENST00000348126.2_Missense_Mutation_p.M357L|PAM_ENST00000379787.4_5'UTR|PAM_ENST00000346918.2_Missense_Mutation_p.M357L|PAM_ENST00000304400.7_Missense_Mutation_p.M357L|PAM_ENST00000274392.9_Missense_Mutation_p.M260L|PAM_ENST00000455264.2_Missense_Mutation_p.M357L	NM_000919.3|NM_001177306.1|NM_138766.2	NP_000910.2|NP_001170777.1|NP_620121.1	P19021	AMD_HUMAN	peptidylglycine alpha-amidating monooxygenase	357	Peptidylglycine alpha-hydroxylating monooxygenase (By similarity).				peptide metabolic process|protein modification process	extracellular region|integral to membrane|stored secretory granule	L-ascorbic acid binding|peptidylamidoglycolate lyase activity|peptidylglycine monooxygenase activity|protein binding			endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	25		all_cancers(142;3.12e-07)|all_epithelial(76;3.48e-10)|Prostate(80;0.00914)|Lung NSC(167;0.0213)|Ovarian(225;0.024)|Colorectal(57;0.0251)|all_lung(232;0.0284)		Epithelial(69;1.1e-13)|COAD - Colon adenocarcinoma(37;0.0127)	Vitamin C(DB00126)	TGATATGGTTATGATGCATGA	0.313													36	37					0	0	1	0	0	C	102295742	A	C	102295742	3	2	176	1	0	0	0	0	1	0	0	0	11459	449	16	4	1115	4	PAM	5	102295742	Missense_Mutation	SNP	A	TCGA-E1-A7YV-01A-11D-A34J-08	56650441	102295742	78619518	14	23997											
SYCP2L	221711	broad.mit.edu	37	6	10930655	10930655	+	Frame_Shift_Del	DEL	C	C	-			TCGA-E1-A7YV-01A-11D-A34J-08	TCGA-E1-A7YV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a40149d-0c14-4c90-a9a8-ec4f88de1e14	7df6835d-3a88-4ed6-819d-1c1a43804009	g.chr6:10930655delC	ENST00000283141.6	+	19	1837	c.1541delC	c.(1540-1542)accfs	p.T514fs	SYCP2L_ENST00000543878.1_3'UTR|RP11-637O19.3_ENST00000480294.1_3'UTR	NM_001040274.2	NP_001035364.2	Q5T4T6	SYC2L_HUMAN	synaptonemal complex protein 2-like	514						nucleus		p.T514N(1)		breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	36	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	Epithelial(50;0.239)			GATTCAAGTACCAGTGAACTA	0.358													30	50	---	---	---	---						-	10930655	C	-	10930655	7	5	176	1	0	1	0	1	0	0	0	0	15490	507	18	0	1615	0	SYCP2L	6	10930655	Frame_Shift_Del	DEL	C	TCGA-E1-A7YV-01A-11D-A34J-08		10930655	160184412	15	23998											
FAM83B	222584	broad.mit.edu	37	6	54805986	54805986	+	Silent	SNP	C	C	A			TCGA-E1-A7YV-01A-11D-A34J-08	TCGA-E1-A7YV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a40149d-0c14-4c90-a9a8-ec4f88de1e14	7df6835d-3a88-4ed6-819d-1c1a43804009	g.chr6:54805986C>A	ENST00000306858.7	+	5	2333	c.2217C>A	c.(2215-2217)tcC>tcA	p.S739S		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	739										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					AATCAGTTTCCATTGCTGCTT	0.403													5	60					3.59834e-05	3.85085e-05	1	1	0	A	54805986	C	A	54805986	2	1	176	1	0	0	0	0	0	0	0	1	5666	581	21	5		5	FAM83B	6	54805986	Silent	SNP	C	TCGA-E1-A7YV-01A-11D-A34J-08	43875331	54805986	116309081	16	23999											
LMBRD1	55788	broad.mit.edu	37	6	70500318	70500318	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YV-01A-11D-A34J-08	TCGA-E1-A7YV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a40149d-0c14-4c90-a9a8-ec4f88de1e14	7df6835d-3a88-4ed6-819d-1c1a43804009	g.chr6:70500318C>T	ENST00000370577.3	-	2	345	c.116G>A	c.(115-117)cGg>cAg	p.R39Q	LMBRD1_ENST00000370570.1_5'UTR	NM_018368.3	NP_060838.3	Q9NUN5	LMBD1_HUMAN	LMBR1 domain containing 1	39					interspecies interaction between organisms|transport	integral to membrane|lysosomal membrane	cobalamin binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	31						ACTTTCCCGCCGACTTTGGTA	0.368													39	46					0	0	1	0	0	T	70500318	C	T	70500318	3	4	176	1	0	0	0	0	1	0	0	0	8883	652	23	1	1566	1	LMBRD1	6	70500318	Missense_Mutation	SNP	C	TCGA-E1-A7YV-01A-11D-A34J-08	15694332	70500318	100614749	17	24000											
RIMS1	22999	broad.mit.edu	37	6	72889334	72889334	+	Silent	SNP	G	G	C			TCGA-E1-A7YV-01A-11D-A34J-08	TCGA-E1-A7YV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a40149d-0c14-4c90-a9a8-ec4f88de1e14	7df6835d-3a88-4ed6-819d-1c1a43804009	g.chr6:72889334G>C	ENST00000264839.7	+	5	528	c.528G>C	c.(526-528)ggG>ggC	p.G176G	RIMS1_ENST00000522291.1_Silent_p.G176G|RIMS1_ENST00000520567.1_Silent_p.G176G|RIMS1_ENST00000518273.1_Silent_p.G176G|RIMS1_ENST00000491071.2_Silent_p.G176G|RIMS1_ENST00000521978.1_Silent_p.G176G|RIMS1_ENST00000517960.1_Silent_p.G176G|RIMS1_ENST00000348717.5_Silent_p.G176G			Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	176	RabBD.				calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				CCAAATCTGGGGCATGGTTCT	0.418													5	23					0	0	1	0	0	C	72889334	G	C	72889334	2	2	176	1	0	0	0	0	0	0	0	1	13419	1219	43	5		5	RIMS1	6	72889334	Silent	SNP	G	TCGA-E1-A7YV-01A-11D-A34J-08	2389016	72889334	98225733	18	24001											
ROS1	6098	broad.mit.edu	37	6	117642501	117642501	+	Missense_Mutation	SNP	T	T	C			TCGA-E1-A7YV-01A-11D-A34J-08	TCGA-E1-A7YV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a40149d-0c14-4c90-a9a8-ec4f88de1e14	7df6835d-3a88-4ed6-819d-1c1a43804009	g.chr6:117642501T>C	ENST00000368508.3	-	35	5896	c.5698A>G	c.(5698-5700)Ata>Gta	p.I1900V	ROS1_ENST00000368507.3_Missense_Mutation_p.I1894V|GOPC_ENST00000467125.1_5'UTR	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	1900					transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		TCTTCGTTTATAAGCACTGTC	0.408			T	"GOPC, SDC4, SLC34A2, EZR, LRIG3"	"glioblastoma, NSCLC"								31	153					0	0	1	0	0	C	117642501	T	C	117642501	3	2	176	1	0	0	0	0	1	0	0	0	13583	1406	49	3	1381	3	ROS1	6	117642501	Missense_Mutation	SNP	T	TCGA-E1-A7YV-01A-11D-A34J-08	44753167	117642501	53472566	19	24002											
DFNA5	1687	broad.mit.edu	37	7	24784276	24784276	+	Silent	SNP	C	C	A			TCGA-E1-A7YV-01A-11D-A34J-08	TCGA-E1-A7YV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a40149d-0c14-4c90-a9a8-ec4f88de1e14	7df6835d-3a88-4ed6-819d-1c1a43804009	g.chr7:24784276C>A	ENST00000342947.3	-	3	734	c.309G>T	c.(307-309)ctG>ctT	p.L103L	DFNA5_ENST00000409775.3_Silent_p.L103L|DFNA5_ENST00000545231.1_5'UTR|DFNA5_ENST00000419307.1_5'UTR|DFNA5_ENST00000409970.1_5'UTR	NM_004403.2	NP_004394.1	O60443	DFNA5_HUMAN	deafness, autosomal dominant 5	103					sensory perception of sound					endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)|stomach(1)	19						TGCTGCCCCCCAGGTTCAGCT	0.562													25	39					1.66031e-10	1.84143e-10	1	1	0	A	24784276	C	A	24784276	2	1	176	1	0	0	0	0	0	0	0	1	4482	581	21	5		5	DFNA5	7	24784276	Silent	SNP	C	TCGA-E1-A7YV-01A-11D-A34J-08		24784276	134354387	20	24003											
SRCRB4D	136853	broad.mit.edu	37	7	76033640	76033640	+	Silent	SNP	A	A	T			TCGA-E1-A7YV-01A-11D-A34J-08	TCGA-E1-A7YV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a40149d-0c14-4c90-a9a8-ec4f88de1e14	7df6835d-3a88-4ed6-819d-1c1a43804009	g.chr7:76033640A>T	ENST00000275560.3	-	2	464	c.117T>A	c.(115-117)ctT>ctA	p.L39L	ZP3_ENST00000336517.4_Intron	NM_080744.1	NP_542782.1	Q8WTU2	SRB4D_HUMAN	scavenger receptor cysteine rich domain containing, group B (4 domains)	39						extracellular region|membrane	scavenger receptor activity			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(9)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21						GCAGGAGGAGAAGGAAAGACA	0.567													6	11					0	0	1	0	0	T	76033640	A	T	76033640	2	4	176	1	0	0	0	0	0	0	0	1	15193	233	9	5		5	SRCRB4D	7	76033640	Silent	SNP	A	TCGA-E1-A7YV-01A-11D-A34J-08	51249364	76033640	83105023	21	24004											
GPR37	2861	broad.mit.edu	37	7	124387196	124387196	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YV-01A-11D-A34J-08	TCGA-E1-A7YV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a40149d-0c14-4c90-a9a8-ec4f88de1e14	7df6835d-3a88-4ed6-819d-1c1a43804009	g.chr7:124387196C>T	ENST00000303921.2	-	2	1875	c.1225G>A	c.(1225-1227)Ggg>Agg	p.G409R		NM_005302.3	NP_005293.1	O15354	GPR37_HUMAN	G protein-coupled receptor 37 (endothelin receptor type B-like)	409						endoplasmic reticulum membrane|integral to plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						CCACTAAACCCCAAATCCTCC	0.493													5	78					0	0	1	0	0	T	124387196	C	T	124387196	3	4	176	1	0	0	0	0	1	0	0	0	6731	623	22	2	620	2	GPR37	7	124387196	Missense_Mutation	SNP	C	TCGA-E1-A7YV-01A-11D-A34J-08	48353556	124387196	34751467	22	24005											
FASTK	10922	broad.mit.edu	37	7	150775729	150775729	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YV-01A-11D-A34J-08	TCGA-E1-A7YV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a40149d-0c14-4c90-a9a8-ec4f88de1e14	7df6835d-3a88-4ed6-819d-1c1a43804009	g.chr7:150775729G>A	ENST00000297532.6	-	4	822	c.745C>T	c.(745-747)Cgg>Tgg	p.R249W	FASTK_ENST00000353841.2_Missense_Mutation_p.R108W|FASTK_ENST00000489884.1_5'UTR|FASTK_ENST00000482571.1_Missense_Mutation_p.R222W|FASTK_ENST00000540185.1_Intron	NM_006712.4	NP_006703.1	Q14296	FASTK_HUMAN	Fas-activated serine/threonine kinase	249					apoptosis|induction of apoptosis by extracellular signals|regulation of RNA splicing		ATP binding|Fas-activated serine/threonine kinase activity|protein binding			lung(4)|stomach(2)	6			OV - Ovarian serous cystadenocarcinoma(82;0.00989)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)|LUSC - Lung squamous cell carcinoma(290;0.0718)|Lung(243;0.138)		AACCGGTGCCGGGCCAGGTGC	0.647													10	24					0	0	1	0	0	A	150775729	G	A	150775729	3	1	176	1	0	0	0	0	1	0	0	0	5717	1115	39	1	932	1	FASTK	7	150775729	Missense_Mutation	SNP	G	TCGA-E1-A7YV-01A-11D-A34J-08	26388533	150775729	8362934	23	24006											
CSMD3	114788	broad.mit.edu	37	8	114031311	114031311	+	Missense_Mutation	SNP	T	T	C			TCGA-E1-A7YV-01A-11D-A34J-08	TCGA-E1-A7YV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a40149d-0c14-4c90-a9a8-ec4f88de1e14	7df6835d-3a88-4ed6-819d-1c1a43804009	g.chr8:114031311T>C	ENST00000297405.5	-	6	1259	c.1015A>G	c.(1015-1017)Agt>Ggt	p.S339G	CSMD3_ENST00000455883.2_Missense_Mutation_p.S339G|CSMD3_ENST00000352409.3_Missense_Mutation_p.S339G|CSMD3_ENST00000343508.3_Missense_Mutation_p.S299G	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	339	CUB 2.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TAGGGAGCACTAAATCCACGG	0.358										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			6	110					0	0	1	0	0	C	114031311	T	C	114031311	3	2	176	1	0	0	0	0	1	0	0	0	3971	1522	53	3	10372	3	CSMD3	8	114031311	Missense_Mutation	SNP	T	TCGA-E1-A7YV-01A-11D-A34J-08		114031311	32332711	24	24007											
KIAA0020	9933	broad.mit.edu	37	9	2837296	2837296	+	Frame_Shift_Del	DEL	T	T	-			TCGA-E1-A7YV-01A-11D-A34J-08	TCGA-E1-A7YV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a40149d-0c14-4c90-a9a8-ec4f88de1e14	7df6835d-3a88-4ed6-819d-1c1a43804009	g.chr9:2837296delT	ENST00000397885.2	-	3	394	c.188delA	c.(187-189)aagfs	p.K63fs		NM_014878.4	NP_055693.4	Q15397	K0020_HUMAN	KIAA0020	63						endoplasmic reticulum|nucleolus	RNA binding			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)	21				GBM - Glioblastoma multiforme(50;0.0319)		CTTTACACCCTTTTTCCCAAG	0.388													7	273	---	---	---	---						-	2837296	T	-	2837296	7	5	176	1	0	1	0	1	0	0	0	0	8194	1609	56	0	1822	0	KIAA0020	9	2837296	Frame_Shift_Del	DEL	T	TCGA-E1-A7YV-01A-11D-A34J-08		2837296	138376135	25	24008											
TLE4	7091	broad.mit.edu	37	9	82187749	82187749	+	Splice_Site	SNP	C	C	A			TCGA-E1-A7YV-01A-11D-A34J-08	TCGA-E1-A7YV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a40149d-0c14-4c90-a9a8-ec4f88de1e14	7df6835d-3a88-4ed6-819d-1c1a43804009	g.chr9:82187749C>A	ENST00000376520.4	+	1	872	c.44C>A	c.(43-45)cCa>cAa	p.P15Q	TLE4_ENST00000376534.4_5'UTR|TLE4_ENST00000376552.2_Splice_Site_p.P15Q|TLE4_ENST00000265284.6_Splice_Site_p.P15Q|TLE4_ENST00000376544.3_Splice_Site_p.P15Q|TLE4_ENST00000376537.4_Splice_Site_p.P15Q	NM_001282748.1	NP_001269677.1	O60756	BCE1_HUMAN	transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila)	0										breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						ACCAGACACCCAGTGAGTgcg	0.672													3	33					1	1	1	1	0	A	82187749	C	A	82187749	5	1	176	1	0	0	0	0	0	0	1	0	16001	608	21	5	46	5	TLE4	9	82187749	Splice_Site	SNP	C	TCGA-E1-A7YV-01A-11D-A34J-08	79350453	82187749	59025682	26	24009											
NUP188	23511	broad.mit.edu	37	9	131741572	131741572	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YV-01A-11D-A34J-08	TCGA-E1-A7YV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a40149d-0c14-4c90-a9a8-ec4f88de1e14	7df6835d-3a88-4ed6-819d-1c1a43804009	g.chr9:131741572C>T	ENST00000372577.2	+	13	1256	c.1235C>T	c.(1234-1236)gCc>gTc	p.A412V		NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	412					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						GAAGTATTGGCCGACCCTTCT	0.388													4	190					0	0	1	0	0	T	131741572	C	T	131741572	3	4	176	1	0	0	0	0	1	0	0	0	10806	739	26	2	1285	2	NUP188	9	131741572	Missense_Mutation	SNP	C	TCGA-E1-A7YV-01A-11D-A34J-08	49553823	131741572	9471859	27	24010											
COL5A1	1289	broad.mit.edu	37	9	137712051	137712051	+	Silent	SNP	C	C	T			TCGA-E1-A7YV-01A-11D-A34J-08	TCGA-E1-A7YV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a40149d-0c14-4c90-a9a8-ec4f88de1e14	7df6835d-3a88-4ed6-819d-1c1a43804009	g.chr9:137712051C>T	ENST00000371817.3	+	58	4950	c.4536C>T	c.(4534-4536)tcC>tcT	p.S1512S		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	1512	Triple-helical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		AGGGCTCCTCCGGTCCTAAGG	0.632													17	36					0	0	1	0	0	T	137712051	C	T	137712051	2	4	176	1	0	0	0	0	0	0	0	1	3719	639	23	1		1	COL5A1	9	137712051	Silent	SNP	C	TCGA-E1-A7YV-01A-11D-A34J-08	5970479	137712051	3501380	28	24011											
TRAF2	7186	broad.mit.edu	37	9	139793219	139793219	+	Frame_Shift_Del	DEL	T	T	-			TCGA-E1-A7YV-01A-11D-A34J-08	TCGA-E1-A7YV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a40149d-0c14-4c90-a9a8-ec4f88de1e14	7df6835d-3a88-4ed6-819d-1c1a43804009	g.chr9:139793219delT	ENST00000359662.3	+	2	72	c.27delT	c.(25-27)cctfs	p.P9fs	TRAF2_ENST00000536468.1_Frame_Shift_Del_p.P9fs|TRAF2_ENST00000247668.2_Frame_Shift_Del_p.P9fs			Q12933	TRAF2_HUMAN	TNF receptor-associated factor 2	9					activation of caspase activity|activation of NF-kappaB-inducing kinase activity|activation of pro-apoptotic gene products|cellular protein complex assembly|induction of apoptosis by extracellular signals|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|protein autoubiquitination|protein homotrimerization|protein K63-linked ubiquitination|tumor necrosis factor-mediated signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane	CD40 receptor binding|enzyme binding|protein binding|signal transducer activity|sphingolipid binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.229)	OV - Ovarian serous cystadenocarcinoma(145;4.48e-06)|Epithelial(140;9.55e-06)		TGACCCCCCCTGGCTCCCTGG	0.597													14	32	---	---	---	---						-	139793219	T	-	139793219	7	5	176	1	0	1	0	1	0	0	0	0	16499	1567	55	0	29	0	TRAF2	9	139793219	Frame_Shift_Del	DEL	T	TCGA-E1-A7YV-01A-11D-A34J-08	2081168	139793219	1420212	29	24012											
ZNF488	118738	broad.mit.edu	37	10	48371440	48371440	+	Missense_Mutation	SNP	C	C	T	rs78202445		TCGA-E1-A7YV-01A-11D-A34J-08	TCGA-E1-A7YV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a40149d-0c14-4c90-a9a8-ec4f88de1e14	7df6835d-3a88-4ed6-819d-1c1a43804009	g.chr10:48371440C>T	ENST00000395702.2	+	2	1135	c.908C>T	c.(907-909)gCg>gTg	p.A303V	ZNF488_ENST00000586537.1_Missense_Mutation_p.A196V|ZNF488_ENST00000494156.1_3'UTR			Q96MN9	ZN488_HUMAN	zinc finger protein 488	303					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|ovary(2)	14						AAGGAGCATGCGGGGCCTGAC	0.602													12	81					0	0	1	0	0	T	48371440	C	T	48371440	3	4	176	1	0	0	0	0	1	0	0	0	17997	768	27	1	910	1	ZNF488	10	48371440	Missense_Mutation	SNP	C	TCGA-E1-A7YV-01A-11D-A34J-08		48371440	87163307	30	24013											
HBG2	3048	broad.mit.edu	37	11	5274540	5274540	+	Silent	SNP	T	T	C			TCGA-E1-A7YV-01A-11D-A34J-08	TCGA-E1-A7YV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a40149d-0c14-4c90-a9a8-ec4f88de1e14	7df6835d-3a88-4ed6-819d-1c1a43804009	g.chr11:5274540T>C	ENST00000380259.2	-	8	1651	c.411A>G	c.(409-411)ggA>ggG	p.G137G	HBG2_ENST00000380252.1_Silent_p.G127G|HBG2_ENST00000336906.4_Silent_p.G137G					hemoglobin, gamma G											endometrium(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)	13		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CACTGGCCACTCCAGTCACCA	0.498													19	34					0	0	1	0	0	C	5274540	T	C	5274540	2	2	176	1	0	0	0	0	0	0	0	1	7024	1538	54	3		3	HBG2	11	5274540	Silent	SNP	T	TCGA-E1-A7YV-01A-11D-A34J-08		5274540	129731976	31	24014	118	2									
HBG2	3048	broad.mit.edu	37	11	5274542	5274542	+	Nonsense_Mutation	SNP	C	C	A			TCGA-E1-A7YV-01A-11D-A34J-08	TCGA-E1-A7YV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a40149d-0c14-4c90-a9a8-ec4f88de1e14	7df6835d-3a88-4ed6-819d-1c1a43804009	g.chr11:5274542C>A	ENST00000380259.2	-	8	1649	c.409G>T	c.(409-411)Gga>Tga	p.G137*	HBG2_ENST00000380252.1_Nonsense_Mutation_p.G127*|HBG2_ENST00000336906.4_Nonsense_Mutation_p.G137*					hemoglobin, gamma G											endometrium(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)	13		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTGGCCACTCCAGTCACCATC	0.498													19	33					2.89027e-11	3.26493e-11	1	1	0	A	5274542	C	A	5274542	4	1	176	1	0	0	0	0	0	1	0	0	7024	603	21	5	38	5	HBG2	11	5274542	Nonsense_Mutation	SNP	C	TCGA-E1-A7YV-01A-11D-A34J-08	2	5274542	129731974	32	24015	118	2									
NEU3	10825	broad.mit.edu	37	11	74717144	74717144	+	Silent	SNP	T	T	A			TCGA-E1-A7YV-01A-11D-A34J-08	TCGA-E1-A7YV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a40149d-0c14-4c90-a9a8-ec4f88de1e14	7df6835d-3a88-4ed6-819d-1c1a43804009	g.chr11:74717144T>A	ENST00000294064.4	+	3	1920	c.993T>A	c.(991-993)tcT>tcA	p.S331S	NEU3_ENST00000545272.1_Silent_p.S222S|NEU3_ENST00000531509.1_Silent_p.S331S|NEU3_ENST00000529024.1_Intron|NEU3_ENST00000544263.1_Silent_p.S298S|NEU3_ENST00000532963.1_3'UTR	NM_006656.5	NP_006647.3	A8K327	A8K327_HUMAN	sialidase 3 (membrane sialidase)	331										kidney(2)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	11						GCCAGGACTCTAGCAGCAAAG	0.572													20	19					0	0	1	0	0	A	74717144	T	A	74717144	2	1	176	1	0	0	0	0	0	0	0	1	10390	1509	53	5		5	NEU3	11	74717144	Silent	SNP	T	TCGA-E1-A7YV-01A-11D-A34J-08	69442602	74717144	60289372	33	24016											
GOLGA3	2802	broad.mit.edu	37	12	133358906	133358906	+	Silent	SNP	T	T	C			TCGA-E1-A7YV-01A-11D-A34J-08	TCGA-E1-A7YV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a40149d-0c14-4c90-a9a8-ec4f88de1e14	7df6835d-3a88-4ed6-819d-1c1a43804009	g.chr12:133358906T>C	ENST00000204726.3	-	17	3999	c.3441A>G	c.(3439-3441)gcA>gcG	p.A1147A	GOLGA3_ENST00000456883.2_Silent_p.A1147A|GOLGA3_ENST00000450791.2_Silent_p.A1147A	NM_005895.3	NP_005886.2	Q08378	GOGA3_HUMAN	golgin A3	1147					intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity			breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		GGACTAGGTCTGCCTCCCTCT	0.547													7	118					0	0	1	0	0	C	133358906	T	C	133358906	2	2	176	1	0	0	0	0	0	0	0	1	6596	1567	55	3		3	GOLGA3	12	133358906	Silent	SNP	T	TCGA-E1-A7YV-01A-11D-A34J-08		133358906	492989	34	24017											
PLCB2	5330	broad.mit.edu	37	15	40594679	40594679	+	Silent	SNP	G	G	A			TCGA-E1-A7YV-01A-11D-A34J-08	TCGA-E1-A7YV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a40149d-0c14-4c90-a9a8-ec4f88de1e14	7df6835d-3a88-4ed6-819d-1c1a43804009	g.chr15:40594679G>A	ENST00000260402.3	-	4	612	c.363C>T	c.(361-363)aaC>aaT	p.N121N	PLCB2_ENST00000557821.1_Silent_p.N121N|PLCB2_ENST00000543785.2_Silent_p.N121N|PLCB2_ENST00000456256.2_Silent_p.N121N	NM_001284297.1|NM_004573.2	NP_001271226.1|NP_004564.2	Q00722	PLCB2_HUMAN	phospholipase C, beta 2	121					activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)		CCTTGCCCACGTTCTCCTTGT	0.612													28	13					0	0	1	0	0	A	40594679	G	A	40594679	2	1	176	1	0	0	0	0	0	0	0	1	12076	1136	40	1		1	PLCB2	15	40594679	Silent	SNP	G	TCGA-E1-A7YV-01A-11D-A34J-08		40594679	61936713	35	24018											
SCNN1G	6340	broad.mit.edu	37	16	23197657	23197657	+	Missense_Mutation	SNP	C	C	A			TCGA-E1-A7YV-01A-11D-A34J-08	TCGA-E1-A7YV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a40149d-0c14-4c90-a9a8-ec4f88de1e14	7df6835d-3a88-4ed6-819d-1c1a43804009	g.chr16:23197657C>A	ENST00000300061.2	+	2	208	c.65C>A	c.(64-66)gCg>gAg	p.A22E		NM_001039.3	NP_001030.2	P51170	SCNNG_HUMAN	sodium channel, non-voltage-gated 1, gamma subunit	22					excretion|sensory perception of taste	apical plasma membrane|integral to plasma membrane	ligand-gated sodium channel activity|WW domain binding			NS(2)|autonomic_ganglia(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	34				GBM - Glioblastoma multiforme(48;0.0366)	Amiloride(DB00594)|Triamterene(DB00384)	GGCCCTCAGGCGCCGACCATT	0.612													16	23					1.02788e-11	1.18304e-11	1	1	0	A	23197657	C	A	23197657	3	1	176	1	0	0	0	0	1	0	0	0	13984	768	27	5	67	5	SCNN1G	16	23197657	Missense_Mutation	SNP	C	TCGA-E1-A7YV-01A-11D-A34J-08		23197657	67157096	36	24019											
COASY	80347	broad.mit.edu	37	17	40714771	40714771	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YV-01A-11D-A34J-08	TCGA-E1-A7YV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a40149d-0c14-4c90-a9a8-ec4f88de1e14	7df6835d-3a88-4ed6-819d-1c1a43804009	g.chr17:40714771G>A	ENST00000393818.2	+	1	587	c.131G>A	c.(130-132)gGc>gAc	p.G44D	COASY_ENST00000449624.1_Intron|COASY_ENST00000421097.2_Missense_Mutation_p.G44D|COASY_ENST00000590958.1_Missense_Mutation_p.G73D|COASY_ENST00000420359.1_Missense_Mutation_p.G44D	NM_025233.6	NP_079509.5	Q13057	COASY_HUMAN	CoA synthase	44					coenzyme A biosynthetic process|pantothenate metabolic process	mitochondrial outer membrane	ATP binding|dephospho-CoA kinase activity|pantetheine-phosphate adenylyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)	21		all_cancers(22;1.06e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)		BRCA - Breast invasive adenocarcinoma(366;0.13)		CTGCAGCCGGGCATGAGCCTG	0.662													4	100					0	0	1	0	0	A	40714771	G	A	40714771	3	1	176	1	0	0	0	0	1	0	0	0	3675	1203	42	2	224	2	COASY	17	40714771	Missense_Mutation	SNP	G	TCGA-E1-A7YV-01A-11D-A34J-08		40714771	40480439	37	24020											
ABCA5	23461	broad.mit.edu	37	17	67249984	67249984	+	Missense_Mutation	SNP	T	T	C			TCGA-E1-A7YV-01A-11D-A34J-08	TCGA-E1-A7YV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a40149d-0c14-4c90-a9a8-ec4f88de1e14	7df6835d-3a88-4ed6-819d-1c1a43804009	g.chr17:67249984T>C	ENST00000392676.3	-	33	4335	c.4271A>G	c.(4270-4272)gAa>gGa	p.E1424G	ABCA5_ENST00000392677.2_Missense_Mutation_p.E1425G|ABCA5_ENST00000588877.1_Missense_Mutation_p.E1424G			Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 5	1424	ABC transporter 2.				cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)					CTGAAGATGTTCTTTTAAATC	0.318													38	84					0	0	1	0	0	C	67249984	T	C	67249984	3	2	176	1	0	0	0	0	1	0	0	0	35	1783	62	3	685	3	ABCA5	17	67249984	Missense_Mutation	SNP	T	TCGA-E1-A7YV-01A-11D-A34J-08	26535213	67249984	13945226	38	24021											
PRR22	163154	broad.mit.edu	37	19	5783642	5783642	+	Silent	SNP	G	G	A			TCGA-E1-A7YV-01A-11D-A34J-08	TCGA-E1-A7YV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a40149d-0c14-4c90-a9a8-ec4f88de1e14	7df6835d-3a88-4ed6-819d-1c1a43804009	g.chr19:5783642G>A	ENST00000419421.2	-	3	720	c.616C>T	c.(616-618)Ctg>Ttg	p.L206L		NM_001134316.1	NP_001127788.1	Q8IZ63	PRR22_HUMAN	proline rich 22	204	Pro-rich.									endometrium(2)|large_intestine(1)|prostate(1)|urinary_tract(1)	5						TCTGGGGGCAGTGTGGGCTCT	0.706													5	5					0	0	1	0	0	A	5783642	G	A	5783642	2	1	176	1	0	0	0	0	0	0	0	1	12645	1020	36	2		2	PRR22	19	5783642	Silent	SNP	G	TCGA-E1-A7YV-01A-11D-A34J-08		5783642	53345341	39	24022											
PNPLA6	10908	broad.mit.edu	37	19	7614924	7614924	+	Silent	SNP	C	C	A			TCGA-E1-A7YV-01A-11D-A34J-08	TCGA-E1-A7YV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a40149d-0c14-4c90-a9a8-ec4f88de1e14	7df6835d-3a88-4ed6-819d-1c1a43804009	g.chr19:7614924C>A	ENST00000221249.6	+	17	2054	c.1623C>A	c.(1621-1623)ggC>ggA	p.G541G	PNPLA6_ENST00000414982.3_Silent_p.G589G|PNPLA6_ENST00000600737.1_Silent_p.G580G|PNPLA6_ENST00000545201.2_Silent_p.G515G|PNPLA6_ENST00000594864.1_3'UTR|PNPLA6_ENST00000450331.3_Silent_p.G541G	NM_006702.4	NP_006693.3	Q8IY17	PLPL6_HUMAN	patatin-like phospholipase domain containing 6	580					cell death|lipid catabolic process|phosphatidylcholine metabolic process	endoplasmic reticulum membrane|integral to membrane	lysophospholipase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						TGCTCACTGGCGAACCTCTCA	0.612													13	76					0.000151284	0.00015911	1	1	0	A	7614924	C	A	7614924	2	1	176	1	0	0	0	0	0	0	0	1	12217	755	27	5		5	PNPLA6	19	7614924	Silent	SNP	C	TCGA-E1-A7YV-01A-11D-A34J-08	1831282	7614924	51514059	40	24023											
OR10H5	284433	broad.mit.edu	37	19	15905375	15905375	+	Nonsense_Mutation	SNP	G	G	T			TCGA-E1-A7YV-01A-11D-A34J-08	TCGA-E1-A7YV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a40149d-0c14-4c90-a9a8-ec4f88de1e14	7df6835d-3a88-4ed6-819d-1c1a43804009	g.chr19:15905375G>T	ENST00000308940.8	+	1	615	c.517G>T	c.(517-519)Gag>Tag	p.E173*		NM_001004466.1	NP_001004466.1	Q8NGA6	O10H5_HUMAN	olfactory receptor, family 10, subfamily H, member 5	173					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(9)|ovary(1)	20						TGGACACAAGGAGATCCACCA	0.602													18	78					5.35267e-07	5.83058e-07	1	1	0	T	15905375	G	T	15905375	4	4	176	1	0	0	0	0	0	1	0	0	10957	1175	41	5	519	5	OR10H5	19	15905375	Nonsense_Mutation	SNP	G	TCGA-E1-A7YV-01A-11D-A34J-08	8290451	15905375	43223608	41	24024											
ZNF43	7594	broad.mit.edu	37	19	21991522	21991522	+	Silent	SNP	T	T	A			TCGA-E1-A7YV-01A-11D-A34J-08	TCGA-E1-A7YV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a40149d-0c14-4c90-a9a8-ec4f88de1e14	7df6835d-3a88-4ed6-819d-1c1a43804009	g.chr19:21991522T>A	ENST00000594012.1	-	7	1813	c.1299A>T	c.(1297-1299)tcA>tcT	p.S433S	ZNF43_ENST00000595461.1_Silent_p.S433S|ZNF43_ENST00000598381.1_Silent_p.S433S|ZNF43_ENST00000354959.4_Silent_p.S439S	NM_001256649.1|NM_001256651.1|NM_001256653.1|NM_001256654.1	NP_001243578.1|NP_001243580.1|NP_001243582.1|NP_001243583.1	P17038	ZNF43_HUMAN	zinc finger protein 43	439					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		TAGTAAGGGTTGAGGGCCAGT	0.388													27	45					0	0	1	0	0	A	21991522	T	A	21991522	2	1	176	1	0	0	0	0	0	0	0	1	17960	1799	63	5		5	ZNF43	19	21991522	Silent	SNP	T	TCGA-E1-A7YV-01A-11D-A34J-08	6086147	21991522	37137461	42	24025											
NAPSA	9476	broad.mit.edu	37	19	50861856	50861856	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YV-01A-11D-A34J-08	TCGA-E1-A7YV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a40149d-0c14-4c90-a9a8-ec4f88de1e14	7df6835d-3a88-4ed6-819d-1c1a43804009	g.chr19:50861856G>A	ENST00000253719.2	-	9	1425	c.1217C>T	c.(1216-1218)gCg>gTg	p.A406V	NR1H2_ENST00000600978.1_Intron|NR1H2_ENST00000542413.1_Intron	NM_004851.1	NP_004842.1	O96009	NAPSA_HUMAN	napsin A aspartic peptidase	406					proteolysis	extracellular region	aspartic-type endopeptidase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(3)	12		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0183)		TCCGAGGTCCGCTCCGCGAGT	0.697													3	13					0	0	1	0	0	A	50861856	G	A	50861856	3	1	176	1	0	0	0	0	1	0	0	0	10214	1087	38	1	49	1	NAPSA	19	50861856	Missense_Mutation	SNP	G	TCGA-E1-A7YV-01A-11D-A34J-08	28870334	50861856	8267127	43	24026											
CLTCL1	8218	broad.mit.edu	37	22	19175592	19175592	+	Silent	SNP	C	C	A	rs35864408		TCGA-E1-A7YV-01A-11D-A34J-08	TCGA-E1-A7YV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a40149d-0c14-4c90-a9a8-ec4f88de1e14	7df6835d-3a88-4ed6-819d-1c1a43804009	g.chr22:19175592C>A	ENST00000263200.10	-	28	4407	c.4335G>T	c.(4333-4335)ctG>ctT	p.L1445L	CLTCL1_ENST00000427926.1_Silent_p.L1445L|CLTCL1_ENST00000353891.5_Silent_p.L1445L|CLTCL1_ENST00000442042.2_Intron	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1	1445	Heavy chain arm.|Involved in binding clathrin light chain (By similarity).|Proximal segment.				anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network	protein binding|signal transducer activity|structural molecule activity			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					TCACCAGGGGCAGCTGACCTG	0.582			T	?	ALCL								15	111					2.62699e-14	3.20493e-14	1	1	0	A	19175592	C	A	19175592	2	1	176	1	0	0	0	0	0	0	0	1	3590	697	25	5		5	CLTCL1	22	19175592	Silent	SNP	C	TCGA-E1-A7YV-01A-11D-A34J-08		19175592	32128974	44	24027											
MEI1	150365	broad.mit.edu	37	22	42114206	42114206	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YV-01A-11D-A34J-08	TCGA-E1-A7YV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a40149d-0c14-4c90-a9a8-ec4f88de1e14	7df6835d-3a88-4ed6-819d-1c1a43804009	g.chr22:42114206G>A	ENST00000401548.3	+	6	701	c.661G>A	c.(661-663)Gag>Aag	p.E221K	MEI1_ENST00000400107.1_5'UTR|MEI1_ENST00000300398.4_5'UTR|MEI1_ENST00000540833.1_5'UTR	NM_152513.3	NP_689726.3	Q5TIA1	MEI1_HUMAN	meiosis inhibitor 1	221							binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						ACACTTCCGTGAGAAGCTTTT	0.493													9	27					0	0	1	0	0	A	42114206	G	A	42114206	3	1	176	1	0	0	0	0	1	0	0	0	9515	1291	45	2	683	2	MEI1	22	42114206	Missense_Mutation	SNP	G	TCGA-E1-A7YV-01A-11D-A34J-08	22938614	42114206	9190360	45	24028											
ZBED4	9889	broad.mit.edu	37	22	50278743	50278743	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YV-01A-11D-A34J-08	TCGA-E1-A7YV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a40149d-0c14-4c90-a9a8-ec4f88de1e14	7df6835d-3a88-4ed6-819d-1c1a43804009	g.chr22:50278743G>A	ENST00000216268.5	+	2	1910	c.1433G>A	c.(1432-1434)cGg>cAg	p.R478Q		NM_014838.2	NP_055653.2	O75132	ZBED4_HUMAN	zinc finger, BED-type containing 4							cytoplasm|nucleus	DNA binding|metal ion binding|protein dimerization activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		GCCGAGTGTCGGTACTGCGGC	0.582													4	120					0	0	1	0	0	A	50278743	G	A	50278743	3	1	176	1	0	0	0	0	1	0	0	0	17579	1116	39	1	1435	1	ZBED4	22	50278743	Missense_Mutation	SNP	G	TCGA-E1-A7YV-01A-11D-A34J-08	8164537	50278743	1025823	46	24029											
AMELX	265	broad.mit.edu	37	X	11317075	11317075	+	Silent	SNP	G	G	A			TCGA-E1-A7YV-01A-11D-A34J-08	TCGA-E1-A7YV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a40149d-0c14-4c90-a9a8-ec4f88de1e14	7df6835d-3a88-4ed6-819d-1c1a43804009	g.chrX:11317075G>A	ENST00000380712.3	+	6	662	c.594G>A	c.(592-594)aaG>aaA	p.K198K	ARHGAP6_ENST00000380736.1_Intron|ARHGAP6_ENST00000380718.1_Intron|ARHGAP6_ENST00000337414.4_Intron|ARHGAP6_ENST00000380732.3_Intron|AMELX_ENST00000348912.4_Silent_p.K168K|ARHGAP6_ENST00000413512.3_Intron|AMELX_ENST00000380714.3_Silent_p.K184K	NM_182680.1	NP_872621.1	Q99217	AMELX_HUMAN	amelogenin, X-linked	184					cell adhesion|cell proliferation|chondrocyte differentiation|enamel mineralization|epithelial to mesenchymal transition|ion homeostasis|odontogenesis of dentine-containing tooth|osteoblast differentiation|positive regulation of collagen biosynthetic process|positive regulation of tooth mineralization|signal transduction	proteinaceous extracellular matrix	cell surface binding|growth factor activity|hydroxyapatite binding|identical protein binding|structural constituent of tooth enamel			endometrium(3)|kidney(2)|large_intestine(1)|lung(9)	15						CAACAGACAAGACCAAGCGGG	0.542													12	20					0	0	1	0	0	A	11317075	G	A	11317075	2	1	176	1	0	0	0	0	0	0	0	1	565	933	33	2		2	AMELX	23	11317075	Silent	SNP	G	TCGA-E1-A7YV-01A-11D-A34J-08		11317075	143953485	47	24030											
MAOA	4128	broad.mit.edu	37	X	43590513	43590513	+	Missense_Mutation	SNP	G	G	C			TCGA-E1-A7YV-01A-11D-A34J-08	TCGA-E1-A7YV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a40149d-0c14-4c90-a9a8-ec4f88de1e14	7df6835d-3a88-4ed6-819d-1c1a43804009	g.chrX:43590513G>C	ENST00000338702.3	+	7	794	c.671G>C	c.(670-672)gGt>gCt	p.G224A	MAOA_ENST00000542639.1_Missense_Mutation_p.G91A|MAOA_ENST00000497485.1_3'UTR	NM_000240.3	NP_000231.1	P21397	AOFA_HUMAN	monoamine oxidase A	224					behavior|neurotransmitter biosynthetic process|neurotransmitter catabolic process|neurotransmitter secretion|xenobiotic metabolic process	integral to membrane|mitochondrial outer membrane	primary amine oxidase activity|protein binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	18					Almotriptan(DB00918)|Carbidopa(DB00190)|Clonazepam(DB01068)|Dopamine(DB00988)|Fluvoxamine(DB00176)|Ginkgo biloba(DB01381)|Imipramine(DB00458)|Isocarboxazid(DB01247)|Levodopa(DB01235)|Linezolid(DB00601)|Lorazepam(DB00186)|Moclobemide(DB01171)|Nicotine(DB00184)|Norepinephrine(DB00368)|Phenelzine(DB00780)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Pseudoephedrine(DB00852)|Rasagiline(DB01367)|Riboflavin(DB00140)|Rizatriptan(DB00953)|Selegiline(DB01037)|Sumatriptan(DB00669)|Testosterone(DB00624)|Tranylcypromine(DB00752)|Zolmitriptan(DB00315)	GGTGGATCTGGTCAAGTGAGC	0.468													25	42					0	0	1	0	0	C	43590513	G	C	43590513	3	2	176	1	0	0	0	0	1	0	0	0	9275	1261	44	5	697	5	MAOA	23	43590513	Missense_Mutation	SNP	G	TCGA-E1-A7YV-01A-11D-A34J-08	32273438	43590513	111680047	48	24031											
ATRX	546	broad.mit.edu	37	X	76937602	76937602	+	Frame_Shift_Del	DEL	A	A	-			TCGA-E1-A7YV-01A-11D-A34J-08	TCGA-E1-A7YV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a40149d-0c14-4c90-a9a8-ec4f88de1e14	7df6835d-3a88-4ed6-819d-1c1a43804009	g.chrX:76937602delA	ENST00000373344.5	-	9	3360	c.3146delT	c.(3145-3147)atafs	p.I1049fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.I1011fs	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1049					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)	TTTATCTCTTATTTTTTTACT	0.323			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						72	118	---	---	---	---						-	76937602	A	-	76937602	7	5	176	1	0	1	0	1	0	0	0	0	1206	449	16	0	4440	0	ATRX	23	76937602	Frame_Shift_Del	DEL	A	TCGA-E1-A7YV-01A-11D-A34J-08	33347089	76937602	78332958	49	24032											
PCDH11X	27328	broad.mit.edu	37	X	91642841	91642841	+	Silent	SNP	C	C	T			TCGA-E1-A7YV-01A-11D-A34J-08	TCGA-E1-A7YV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a40149d-0c14-4c90-a9a8-ec4f88de1e14	7df6835d-3a88-4ed6-819d-1c1a43804009	g.chrX:91642841C>T	ENST00000373094.1	+	5	4097	c.3252C>T	c.(3250-3252)ggC>ggT	p.G1084G	PCDH11X_ENST00000361655.2_Silent_p.G1074G|PCDH11X_ENST00000373097.1_Silent_p.G1074G|PCDH11X_ENST00000504220.2_Intron|PCDH11X_ENST00000373088.1_Silent_p.G1047G|PCDH11X_ENST00000406881.1_Silent_p.G1084G|PCDH11X_ENST00000298274.8_Silent_p.G1047G	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	1084					homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						CATCTCATGGCCTGCCCCTTG	0.542													42	50					0	0	1	0	0	T	91642841	C	T	91642841	2	4	176	1	0	0	0	0	0	0	0	1	11555	726	26	2		2	PCDH11X	23	91642841	Silent	SNP	C	TCGA-E1-A7YV-01A-11D-A34J-08	14705239	91642841	63627719	50	24033											
UBE2NL	389898	broad.mit.edu	37	X	142967238	142967238	+	Silent	SNP	C	C	A			TCGA-E1-A7YV-01A-11D-A34J-08	TCGA-E1-A7YV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a40149d-0c14-4c90-a9a8-ec4f88de1e14	7df6835d-3a88-4ed6-819d-1c1a43804009	g.chrX:142967238C>A	ENST00000370494.1	+	1	66	c.36C>A	c.(34-36)acC>acA	p.T12T		NM_001012989.1	NP_001013007.1	Q5JXB2	UE2NL_HUMAN	ubiquitin-conjugating enzyme E2N-like	12							acid-amino acid ligase activity	p.T12T(1)|p.Q13K(1)		breast(1)|endometrium(1)|large_intestine(8)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	24	Acute lymphoblastic leukemia(192;6.56e-05)					TCAAGGAAACCCAGCGTTTGC	0.468													34	53					5.8336e-16	7.26224e-16	1	1	0	A	142967238	C	A	142967238	2	1	176	1	0	0	0	0	0	0	0	1	16928	610	22	5		5	UBE2NL	23	142967238	Silent	SNP	C	TCGA-E1-A7YV-01A-11D-A34J-08	51324397	142967238	12303322	51	24034											
TMEM185A	84548	broad.mit.edu	37	X	148690439	148690439	+	Missense_Mutation	SNP	G	G	T			TCGA-E1-A7YV-01A-11D-A34J-08	TCGA-E1-A7YV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a40149d-0c14-4c90-a9a8-ec4f88de1e14	7df6835d-3a88-4ed6-819d-1c1a43804009	g.chrX:148690439G>T	ENST00000316916.8	-	3	602	c.298C>A	c.(298-300)Ctg>Atg	p.L100M	TMEM185A_ENST00000536359.1_Missense_Mutation_p.L41M|TMEM185A_ENST00000507237.1_Missense_Mutation_p.L100M	NM_032508.2	NP_115897.1	Q8NFB2	T185A_HUMAN	transmembrane protein 185A	100						integral to membrane				kidney(1)|large_intestine(3)|lung(10)|ovary(1)	15	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					TCACAGACCAGAACTTCAAAC	0.488													24	132					3.7963e-18	4.82447e-18	1	1	0	T	148690439	G	T	148690439	3	4	176	1	0	0	0	0	1	0	0	0	16167	933	33	4	774	4	TMEM185A	23	148690439	Missense_Mutation	SNP	G	TCGA-E1-A7YV-01A-11D-A34J-08	5723201	148690439	6580121	52	24035											
RHCE	6006	broad.mit.edu	37	1	25718594	25718594	+	Silent	SNP	G	G	A			TCGA-E1-A7YW-01A-11D-A34J-08	TCGA-E1-A7YW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5face8a0-d58b-491f-ac0c-250debfcc4a8	215dcbc7-2a33-44a1-958b-4c41634a5a18	g.chr1:25718594G>A	ENST00000349320.3	-	6	865	c.477C>T	c.(475-477)ttC>ttT	p.F159F	RHCE_ENST00000349438.4_Silent_p.F175F|RHCE_ENST00000425135.1_Silent_p.F175F|RHCE_ENST00000294413.7_Silent_p.F175F|RHCE_ENST00000455194.1_Intron|RHCE_ENST00000243186.6_Silent_p.F175F|RHCE_ENST00000340849.4_Intron|RHCE_ENST00000374352.2_Silent_p.F159F|RHCE_ENST00000346452.4_Intron|RHCE_ENST00000413854.1_Silent_p.F175F			P18577	RHCE_HUMAN	Rh blood group, CcEe antigens	175						integral to plasma membrane				endometrium(8)|large_intestine(6)|lung(3)	17		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0426)|OV - Ovarian serous cystadenocarcinoma(117;2.12e-27)|Colorectal(126;3.16e-08)|COAD - Colon adenocarcinoma(152;1.72e-06)|STAD - Stomach adenocarcinoma(196;0.00035)|KIRC - Kidney renal clear cell carcinoma(1967;0.000769)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|GBM - Glioblastoma multiforme(114;0.00458)|READ - Rectum adenocarcinoma(331;0.0649)		AATAGGCTGCGAACACGTAGA	0.532													59	68					0	0	1	0	0	A	25718594	G	A	25718594	2	1	177	1	0	0	0	0	0	0	0	1	13375	1049	37	1		1	RHCE	1	25718594	Silent	SNP	G	TCGA-E1-A7YW-01A-11D-A34J-08		25718594	223532027	1	24036											
FLG	2312	broad.mit.edu	37	1	152283044	152283044	+	Missense_Mutation	SNP	A	A	C			TCGA-E1-A7YW-01A-11D-A34J-08	TCGA-E1-A7YW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5face8a0-d58b-491f-ac0c-250debfcc4a8	215dcbc7-2a33-44a1-958b-4c41634a5a18	g.chr1:152283044A>C	ENST00000368799.1	-	3	4353	c.4318T>G	c.(4318-4320)Tct>Gct	p.S1440A	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1440	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TAGAGGAAAGACCTTGAACGT	0.587									Ichthyosis				79	111					0	0	1	0	0	C	152283044	A	C	152283044	3	2	177	1	0	0	0	0	1	0	0	0	5955	275	10	5	7871	5	FLG	1	152283044	Missense_Mutation	SNP	A	TCGA-E1-A7YW-01A-11D-A34J-08	126564450	152283044	96967577	2	24037											
PIGR	5284	broad.mit.edu	37	1	207112705	207112705	+	Silent	SNP	C	C	T			TCGA-E1-A7YW-01A-11D-A34J-08	TCGA-E1-A7YW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5face8a0-d58b-491f-ac0c-250debfcc4a8	215dcbc7-2a33-44a1-958b-4c41634a5a18	g.chr1:207112705C>T	ENST00000356495.4	-	3	330	c.147G>A	c.(145-147)cgG>cgA	p.R49R		NM_002644.3	NP_002635.2	P01833	PIGR_HUMAN	polymeric immunoglobulin receptor	49	Ig-like V-type 1.					extracellular region|integral to plasma membrane	protein binding			central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						TCCGGGTGTGCCGGTTGACAG	0.567													4	66					0	0	1	0	0	T	207112705	C	T	207112705	2	4	177	1	0	0	0	0	0	0	0	1	11945	726	26	2		2	PIGR	1	207112705	Silent	SNP	C	TCGA-E1-A7YW-01A-11D-A34J-08	54829661	207112705	42137916	3	24038											
MYO7B	4648	broad.mit.edu	37	2	128394439	128394439	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YW-01A-11D-A34J-08	TCGA-E1-A7YW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5face8a0-d58b-491f-ac0c-250debfcc4a8	215dcbc7-2a33-44a1-958b-4c41634a5a18	g.chr2:128394439C>T	ENST00000389524.4	+	46	6256	c.6203C>T	c.(6202-6204)gCg>gTg	p.A2068V	MYO7B_ENST00000428314.1_Missense_Mutation_p.A2067V|MYO7B_ENST00000409816.2_Missense_Mutation_p.A2067V|MYO7B_ENST00000409090.1_Missense_Mutation_p.A920V			Q6PIF6	MYO7B_HUMAN	myosin VIIB	2067	FERM 2.					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		TTCCACATGGCGCTGGGGAGC	0.642													41	68					0	0	1	0	0	T	128394439	C	T	128394439	3	4	177	1	0	0	0	0	1	0	0	0	10131	768	27	1	6378	1	MYO7B	2	128394439	Missense_Mutation	SNP	C	TCGA-E1-A7YW-01A-11D-A34J-08		128394439	114804934	4	24039											
DFNB59	494513	broad.mit.edu	37	2	179323278	179323278	+	Missense_Mutation	SNP	A	A	T			TCGA-E1-A7YW-01A-11D-A34J-08	TCGA-E1-A7YW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5face8a0-d58b-491f-ac0c-250debfcc4a8	215dcbc7-2a33-44a1-958b-4c41634a5a18	g.chr2:179323278A>T	ENST00000409117.3	+	5	947	c.591A>T	c.(589-591)aaA>aaT	p.K197N	DFNB59_ENST00000375129.4_Missense_Mutation_p.K197N|DFNB59_ENST00000605419.1_3'UTR	NM_001042702.3	NP_001036167.1	Q0ZLH3	PJVK_HUMAN	deafness, autosomal recessive 59	197					sensory perception of sound					breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.0159)|all cancers(119;0.0564)			GAAGGGACAAAGCTATTGTTT	0.353													37	53					0	0	1	0	0	T	179323278	A	T	179323278	3	4	177	1	0	0	0	0	1	0	0	0	4484	69	3	5	605	5	DFNB59	2	179323278	Missense_Mutation	SNP	A	TCGA-E1-A7YW-01A-11D-A34J-08	50928839	179323278	63876095	5	24040											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-E1-A7YW-01A-11D-A34J-08	TCGA-E1-A7YW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5face8a0-d58b-491f-ac0c-250debfcc4a8	215dcbc7-2a33-44a1-958b-4c41634a5a18	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								36	50					0	0	1	0	0	T	209113112	C	T	209113112	3	4	177	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-E1-A7YW-01A-11D-A34J-08	29789834	209113112	34086261	6	24041											
ERC2	26059	broad.mit.edu	37	3	56026189	56026189	+	Silent	SNP	G	G	A			TCGA-E1-A7YW-01A-11D-A34J-08	TCGA-E1-A7YW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5face8a0-d58b-491f-ac0c-250debfcc4a8	215dcbc7-2a33-44a1-958b-4c41634a5a18	g.chr3:56026189G>A	ENST00000288221.6	-	11	2406	c.2151C>T	c.(2149-2151)gaC>gaT	p.D717D		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	717						cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		TGCCACACTCGTCGCGGTAGT	0.483													15	139					0	0	1	0	0	A	56026189	G	A	56026189	2	1	177	1	0	0	0	0	0	0	0	1	5239	1136	40	1		1	ERC2	3	56026189	Silent	SNP	G	TCGA-E1-A7YW-01A-11D-A34J-08		56026189	141996241	7	24042											
PSMD2	5708	broad.mit.edu	37	3	184020270	184020270	+	Missense_Mutation	SNP	A	A	C			TCGA-E1-A7YW-01A-11D-A34J-08	TCGA-E1-A7YW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5face8a0-d58b-491f-ac0c-250debfcc4a8	215dcbc7-2a33-44a1-958b-4c41634a5a18	g.chr3:184020270A>C	ENST00000310118.4	+	6	1375	c.817A>C	c.(817-819)Aat>Cat	p.N273H	EIF2B5_ENST00000444495.1_Intron|PSMD2_ENST00000439383.1_Missense_Mutation_p.N143H|PSMD2_ENST00000435761.1_Missense_Mutation_p.N114H	NM_002808.3	NP_002799.3	Q13200	PSMD2_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 2	273					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	enzyme regulator activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|liver(1)|lung(12)|prostate(3)|upper_aerodigestive_tract(2)	27	all_cancers(143;1.54e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Bortezomib(DB00188)	ATTGATGCTCAATGACATGGA	0.498													5	39					0	0	1	0	0	C	184020270	A	C	184020270	3	2	177	1	0	0	0	0	1	0	0	0	12747	130	5	5	839	5	PSMD2	3	184020270	Missense_Mutation	SNP	A	TCGA-E1-A7YW-01A-11D-A34J-08	127994081	184020270	14002160	8	24043											
MAN2B2	23324	broad.mit.edu	37	4	6578364	6578364	+	Silent	SNP	C	C	T			TCGA-E1-A7YW-01A-11D-A34J-08	TCGA-E1-A7YW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5face8a0-d58b-491f-ac0c-250debfcc4a8	215dcbc7-2a33-44a1-958b-4c41634a5a18	g.chr4:6578364C>T	ENST00000285599.3	+	2	234	c.198C>T	c.(196-198)cgC>cgT	p.R66R	MAN2B2_ENST00000504248.1_Silent_p.R66R	NM_015274.1	NP_056089.1	Q9Y2E5	MA2B2_HUMAN	mannosidase, alpha, class 2B, member 2	66					mannose metabolic process	extracellular region	alpha-mannosidase activity|carbohydrate binding|zinc ion binding			breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	30						AGCTGGCCCGCGGCCAGCAGC	0.627													56	60					0	0	1	0	0	T	6578364	C	T	6578364	2	4	177	1	0	0	0	0	0	0	0	1	9267	755	27	1		1	MAN2B2	4	6578364	Silent	SNP	C	TCGA-E1-A7YW-01A-11D-A34J-08		6578364	184575912	9	24044											
THBS4	7060	broad.mit.edu	37	5	79355295	79355295	+	Silent	SNP	A	A	C			TCGA-E1-A7YW-01A-11D-A34J-08	TCGA-E1-A7YW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5face8a0-d58b-491f-ac0c-250debfcc4a8	215dcbc7-2a33-44a1-958b-4c41634a5a18	g.chr5:79355295A>C	ENST00000350881.2	+	6	955	c.765A>C	c.(763-765)atA>atC	p.I255I	THBS4_ENST00000511733.1_Silent_p.I164I|CTD-2201I18.1_ENST00000503007.1_RNA	NM_003248.4	NP_003239.2	P35443	TSP4_HUMAN	thrombospondin 4	255					endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation	basement membrane|extracellular space	calcium ion binding|heparin binding|integrin binding|structural molecule activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		GAAACACCATAGCTGAATGCC	0.443													38	57					0	0	1	0	0	C	79355295	A	C	79355295	2	2	177	1	0	0	0	0	0	0	0	1	15916	410	15	5		5	THBS4	5	79355295	Silent	SNP	A	TCGA-E1-A7YW-01A-11D-A34J-08		79355295	101559965	10	24045											
FAM83B	222584	broad.mit.edu	37	6	54791239	54791239	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YW-01A-11D-A34J-08	TCGA-E1-A7YW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5face8a0-d58b-491f-ac0c-250debfcc4a8	215dcbc7-2a33-44a1-958b-4c41634a5a18	g.chr6:54791239G>A	ENST00000306858.7	+	3	631	c.515G>A	c.(514-516)cGa>cAa	p.R172Q		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	172										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					GCATCAACTCGAGGAGTATCT	0.333													42	49					0	0	1	0	0	A	54791239	G	A	54791239	3	1	177	1	0	0	0	0	1	0	0	0	5666	1058	37	1	521	1	FAM83B	6	54791239	Missense_Mutation	SNP	G	TCGA-E1-A7YW-01A-11D-A34J-08		54791239	116323828	11	24046											
EPHB6	2051	broad.mit.edu	37	7	142566372	142566372	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YW-01A-11D-A34J-08	TCGA-E1-A7YW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5face8a0-d58b-491f-ac0c-250debfcc4a8	215dcbc7-2a33-44a1-958b-4c41634a5a18	g.chr7:142566372G>A	ENST00000392957.2	+	15	2948	c.2161G>A	c.(2161-2163)Gca>Aca	p.A721T	EPHB6_ENST00000442129.1_Missense_Mutation_p.A721T|EPHB6_ENST00000411471.2_Missense_Mutation_p.A444T	NM_004445.3	NP_004436.3	O15197	EPHB6_HUMAN	EPH receptor B6	721	Protein kinase.					extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					GGGCCGGGCCGCAGTGCTGGG	0.687													3	21					0	0	1	0	0	A	142566372	G	A	142566372	3	1	177	1	0	0	0	0	1	0	0	0	5206	1087	38	1	2203	1	EPHB6	7	142566372	Missense_Mutation	SNP	G	TCGA-E1-A7YW-01A-11D-A34J-08		142566372	16572291	12	24047											
RIMS2	9699	broad.mit.edu	37	8	105263256	105263256	+	Silent	SNP	G	G	A	rs143698299	by1000genomes	TCGA-E1-A7YW-01A-11D-A34J-08	TCGA-E1-A7YW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5face8a0-d58b-491f-ac0c-250debfcc4a8	215dcbc7-2a33-44a1-958b-4c41634a5a18	g.chr8:105263256G>A	ENST00000507740.1	+	21	3374	c.3138G>A	c.(3136-3138)ccG>ccA	p.P1046P	RIMS2_ENST00000339750.2_Silent_p.P168P|RIMS2_ENST00000262231.10_Silent_p.P1071P|RIMS2_ENST00000406091.3_Silent_p.P1232P|RIMS2_ENST00000436393.2_Silent_p.P1250P	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1294					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			CCCAAGCACCGTATGTAAAAG	0.408										HNSCC(12;0.0054)			35	39					0	0	1	0	0	A	105263256	G	A	105263256	2	1	177	1	0	0	0	0	0	0	0	1	13420	1132	40	1		1	RIMS2	8	105263256	Silent	SNP	G	TCGA-E1-A7YW-01A-11D-A34J-08		105263256	41100766	13	24048											
KHDRBS3	10656	broad.mit.edu	37	8	136561043	136561043	+	Missense_Mutation	SNP	A	A	G			TCGA-E1-A7YW-01A-11D-A34J-08	TCGA-E1-A7YW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5face8a0-d58b-491f-ac0c-250debfcc4a8	215dcbc7-2a33-44a1-958b-4c41634a5a18	g.chr8:136561043A>G	ENST00000355849.5	+	4	781	c.371A>G	c.(370-372)aAt>aGt	p.N124S	KHDRBS3_ENST00000520981.1_Intron	NM_006558.1	NP_006549.1	O75525	KHDR3_HUMAN	KH domain containing, RNA binding, signal transduction associated 3	124	KH.				regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	SH3 domain binding			NS(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	26	all_epithelial(106;2.85e-16)|all_neural(2;2.72e-06)|Lung NSC(106;3.95e-06)|all_lung(105;1.11e-05)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.247)			TTCCATCTCAATGATGATCTC	0.393													9	71					0	0	1	0	0	G	136561043	A	G	136561043	3	3	177	1	0	0	0	0	1	0	0	0	8190	101	4	3	385	3	KHDRBS3	8	136561043	Missense_Mutation	SNP	A	TCGA-E1-A7YW-01A-11D-A34J-08	31297787	136561043	9802979	14	24049											
KCNT1	57582	broad.mit.edu	37	9	138642849	138642849	+	Silent	SNP	G	G	A			TCGA-E1-A7YW-01A-11D-A34J-08	TCGA-E1-A7YW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5face8a0-d58b-491f-ac0c-250debfcc4a8	215dcbc7-2a33-44a1-958b-4c41634a5a18	g.chr9:138642849G>A	ENST00000298480.5	+	4	470	c.396G>A	c.(394-396)gtG>gtA	p.V132V	KCNT1_ENST00000263604.3_Silent_p.V113V|KCNT1_ENST00000486577.2_Silent_p.V93V|KCNT1_ENST00000490355.2_Silent_p.V113V|KCNT1_ENST00000491806.2_Silent_p.V99V|KCNT1_ENST00000487664.1_Silent_p.V84V|KCNT1_ENST00000488444.2_Silent_p.V113V|KCNT1_ENST00000371757.2_Silent_p.V132V			B7ZVY4	B7ZVY4_HUMAN	potassium channel, subfamily T, member 1	132						membrane	binding|calcium-activated potassium channel activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		TCTACATTGTGCGCGTCCTGC	0.701													32	82					0	0	1	0	0	A	138642849	G	A	138642849	2	1	177	1	0	0	0	0	0	0	0	1	8135	1306	46	2		2	KCNT1	9	138642849	Silent	SNP	G	TCGA-E1-A7YW-01A-11D-A34J-08		138642849	2570582	15	24050											
ZNF32	7580	broad.mit.edu	37	10	44139670	44139670	+	Missense_Mutation	SNP	T	T	C			TCGA-E1-A7YW-01A-11D-A34J-08	TCGA-E1-A7YW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5face8a0-d58b-491f-ac0c-250debfcc4a8	215dcbc7-2a33-44a1-958b-4c41634a5a18	g.chr10:44139670T>C	ENST00000395797.1	-	3	838	c.650A>G	c.(649-651)tAt>tGt	p.Y217C	ZNF32_ENST00000374433.2_Missense_Mutation_p.Y217C|ZNF32-AS1_ENST00000453284.1_RNA|ZNF32-AS3_ENST00000458063.1_RNA	NM_001005368.1	NP_001005368.1	P17041	ZNF32_HUMAN	zinc finger protein 32	217					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(2)|ovary(1)|pancreas(1)|urinary_tract(1)	14		all_neural(218;0.0182)|Ovarian(717;0.0443)|Renal(717;0.157)		Lung(62;0.179)		GGTACAGGCATAGGGCTTCAG	0.498													10	48					0	0	1	0	0	C	44139670	T	C	44139670	3	2	177	1	0	0	0	0	1	0	0	0	17895	1406	49	3	175	3	ZNF32	10	44139670	Missense_Mutation	SNP	T	TCGA-E1-A7YW-01A-11D-A34J-08		44139670	91395077	16	24051											
VWCE	220001	broad.mit.edu	37	11	61062455	61062455	+	Frame_Shift_Del	DEL	C	C	-			TCGA-E1-A7YW-01A-11D-A34J-08	TCGA-E1-A7YW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5face8a0-d58b-491f-ac0c-250debfcc4a8	215dcbc7-2a33-44a1-958b-4c41634a5a18	g.chr11:61062455delC	ENST00000335613.5	-	1	441	c.55delG	c.(55-57)gcafs	p.A19fs		NM_152718.2	NP_689931.2	Q96DN2	VWCE_HUMAN	von Willebrand factor C and EGF domains	19						extracellular region	calcium ion binding			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						CGGGCTGGTGCCCCCGGCAGC	0.786													2	4	---	---	---	---						-	61062455	C	-	61062455	7	5	177	1	0	1	0	1	0	0	0	0	17305	739	26	0	2892	0	VWCE	11	61062455	Frame_Shift_Del	DEL	C	TCGA-E1-A7YW-01A-11D-A34J-08		61062455	73944061	17	24052											
C11orf82	220042	broad.mit.edu	37	11	82643953	82643953	+	Missense_Mutation	SNP	A	A	T			TCGA-E1-A7YW-01A-11D-A34J-08	TCGA-E1-A7YW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5face8a0-d58b-491f-ac0c-250debfcc4a8	215dcbc7-2a33-44a1-958b-4c41634a5a18	g.chr11:82643953A>T	ENST00000533655.1	+	6	1785	c.1573A>T	c.(1573-1575)Aat>Tat	p.N525Y	C11orf82_ENST00000528759.1_3'UTR|C11orf82_ENST00000525361.1_Intron|C11orf82_ENST00000329143.3_Missense_Mutation_p.N224Y|C11orf82_ENST00000430323.2_Missense_Mutation_p.N525Y	NM_145018.3	NP_659455.3	Q8IXT1	NOXIN_HUMAN	chromosome 11 open reading frame 82	525					apoptosis|cell cycle arrest	cytoplasm|nucleus				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	33						TGTAAATCATAATGGAAGAGA	0.348													13	22					0	0	1	0	0	T	82643953	A	T	82643953	3	4	177	1	0	0	0	0	1	0	0	0	1670	362	13	5	1587	5	C11orf82	11	82643953	Missense_Mutation	SNP	A	TCGA-E1-A7YW-01A-11D-A34J-08	21581498	82643953	52362563	18	24053											
PAH	5053	broad.mit.edu	37	12	103246665	103246665	+	Missense_Mutation	SNP	C	C	T	rs62642908		TCGA-E1-A7YW-01A-11D-A34J-08	TCGA-E1-A7YW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5face8a0-d58b-491f-ac0c-250debfcc4a8	215dcbc7-2a33-44a1-958b-4c41634a5a18	g.chr12:103246665C>T	ENST00000553106.1	-	7	1242	c.770G>A	c.(769-771)gGc>gAc	p.G257D	PAH_ENST00000307000.2_Missense_Mutation_p.G252D	NM_000277.1	NP_000268.1	P00439	PH4H_HUMAN	phenylalanine hydroxylase	257			G -> C (in PKU).		catecholamine biosynthetic process|L-phenylalanine catabolic process|neurotransmitter biosynthetic process	cytosol	phenylalanine 4-monooxygenase activity			endometrium(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(5)|skin(2)|urinary_tract(1)	27					Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Levodopa(DB01235)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360)	GAAGGCCAGGCCACCCAAGAA	0.537													19	43					0	0	1	0	0	T	103246665	C	T	103246665	3	4	177	1	0	0	0	0	1	0	0	0	11441	739	26	2	616	2	PAH	12	103246665	Missense_Mutation	SNP	C	TCGA-E1-A7YW-01A-11D-A34J-08		103246665	30605230	19	24054											
TCF12	6938	broad.mit.edu	37	15	57523417	57523418	+	Frame_Shift_Ins	INS	-	-	TGGT			TCGA-E1-A7YW-01A-11D-A34J-08	TCGA-E1-A7YW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5face8a0-d58b-491f-ac0c-250debfcc4a8	215dcbc7-2a33-44a1-958b-4c41634a5a18	g.chr15:57523417_57523418insTGGT	ENST00000267811.5	+	9	951_952	c.647_648insTGGT	c.(646-651)ccaccafs	p.P217fs	TCF12_ENST00000343827.3_Frame_Shift_Ins_p.P47fs|TCF12_ENST00000452095.2_Frame_Shift_Ins_p.P213fs|TCF12_ENST00000560764.1_3'UTR|TCF12_ENST00000557843.1_Frame_Shift_Ins_p.P217fs|TCF12_ENST00000438423.2_Frame_Shift_Ins_p.P217fs|TCF12_ENST00000543579.1_Frame_Shift_Ins_p.P47fs|TCF12_ENST00000333725.5_Frame_Shift_Ins_p.P217fs|TCF12_ENST00000537840.1_Frame_Shift_Ins_p.H27fs	NM_003205.3|NM_207038.1	NP_003196.1|NP_996921.1	Q99081	HTF4_HUMAN	transcription factor 12	217					immune response|muscle organ development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity		TCF12/NR4A3(2)	breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	36		Colorectal(260;0.0907)		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)		TCTCCTAAGCCACCAACCAGTA	0.361			T	TEC	extraskeletal myxoid chondrosarcoma								32	85	---	---	---	---						TGGT	57523418	-	TGGT	57523417	7	5	177	1	0	1	1	0	0	0	0	0	15747	594	21	0	750	0	TCF12	15	57523417	Frame_Shift_Ins	INS	-	TCGA-E1-A7YW-01A-11D-A34J-08		57523417	45007975	20	24055											
CCDC33	80125	broad.mit.edu	37	15	74623324	74623324	+	Missense_Mutation	SNP	G	G	T			TCGA-E1-A7YW-01A-11D-A34J-08	TCGA-E1-A7YW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5face8a0-d58b-491f-ac0c-250debfcc4a8	215dcbc7-2a33-44a1-958b-4c41634a5a18	g.chr15:74623324G>T	ENST00000321288.5	+	16	2157	c.2157G>T	c.(2155-2157)aaG>aaT	p.K719N	CCDC33_ENST00000268082.4_Missense_Mutation_p.K109N|CCDC33_ENST00000558821.1_Missense_Mutation_p.K109N|CCDC33_ENST00000398814.3_Missense_Mutation_p.K516N			Q8N5R6	CCD33_HUMAN	coiled-coil domain containing 33	719							protein binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						TCTCACAGAAGAATGATCGAG	0.607													4	9					0.00024832	0.000255624	1	1	0	T	74623324	G	T	74623324	3	4	177	1	0	0	0	0	1	0	0	0	2825	933	33	4	1675	4	CCDC33	15	74623324	Missense_Mutation	SNP	G	TCGA-E1-A7YW-01A-11D-A34J-08	17099907	74623324	27908068	21	24056											
FBXO31	79791	broad.mit.edu	37	16	87367623	87367623	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YW-01A-11D-A34J-08	TCGA-E1-A7YW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5face8a0-d58b-491f-ac0c-250debfcc4a8	215dcbc7-2a33-44a1-958b-4c41634a5a18	g.chr16:87367623C>T	ENST00000568879.1	-	1	256	c.257G>A	c.(256-258)aGg>aAg	p.R86K	FBXO31_ENST00000311635.7_Silent_p.E422E																							CGCCACCATCCTCACCAGGTG	0.736													21	18					0	0	1	0	0	T	87367623	C	T	87367623	3	4	177	1	0	0	0	0	1	0	0	0	5774	680	24	2	361	2	FBXO31	16	87367623	Missense_Mutation	SNP	C	TCGA-E1-A7YW-01A-11D-A34J-08		87367623	2987130	22	24057											
ANKRD11	29123	broad.mit.edu	37	16	89349484	89349484	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YW-01A-11D-A34J-08	TCGA-E1-A7YW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5face8a0-d58b-491f-ac0c-250debfcc4a8	215dcbc7-2a33-44a1-958b-4c41634a5a18	g.chr16:89349484G>A	ENST00000301030.4	-	9	3926	c.3466C>T	c.(3466-3468)Cgg>Tgg	p.R1156W	ANKRD11_ENST00000378330.2_Missense_Mutation_p.R1156W	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	1156	Lys-rich.					nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		TAGGCCTCCCGTCCTTCCTCC	0.612													4	87					0	0	1	0	0	A	89349484	G	A	89349484	3	1	177	1	0	0	0	0	1	0	0	0	635	1144	40	1	4545	1	ANKRD11	16	89349484	Missense_Mutation	SNP	G	TCGA-E1-A7YW-01A-11D-A34J-08	1981861	89349484	1005269	23	24058											
TP53	7157	broad.mit.edu	37	17	7577548	7577548	+	Missense_Mutation	SNP	C	C	T	rs28934575		TCGA-E1-A7YW-01A-11D-A34J-08	TCGA-E1-A7YW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5face8a0-d58b-491f-ac0c-250debfcc4a8	215dcbc7-2a33-44a1-958b-4c41634a5a18	g.chr17:7577548C>T	ENST00000420246.2	-	7	865	c.733G>A	c.(733-735)Ggc>Agc	p.G245S	TP53_ENST00000445888.2_Missense_Mutation_p.G245S|TP53_ENST00000455263.2_Missense_Mutation_p.G245S|TP53_ENST00000359597.4_Missense_Mutation_p.G245S|TP53_ENST00000413465.2_Missense_Mutation_p.G245S|TP53_ENST00000269305.4_Missense_Mutation_p.G245S	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	245	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		G -> A (in sporadic cancers; somatic mutation).|G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> E (in a sporadic cancer; somatic mutation).|G -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|G -> L (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934575).|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.G245S(304)|p.G245C(59)|p.G245R(10)|p.G152S(8)|p.0?(8)|p.?(5)|p.G152C(4)|p.G244_M246>V(3)|p.G245N(2)|p.G245fs*2(2)|p.G245H(1)|p.G245L(1)|p.G244fs*17(1)|p.G245F(1)|p.C242_M246>L(1)|p.C238_M246delCNSSCMGGM(1)|p.G245fs*22(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.M243fs*18(1)|p.G151_M153>V(1)|p.G245del(1)|p.G245fs*14(1)|p.G245fs*17(1)|p.G245fs*16(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CGGTTCATGCCGCCCATGCAG	0.577	G245S(LS1034_LARGE_INTESTINE)|G245S(NUGC2_STOMACH)|G245S(PANC0403_PANCREAS)|G245S(SKLMS1_SOFT_TISSUE)|G245S(SKMEL2_SKIN)	111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			41	7					0	0	1	0	0	T	7577548	C	T	7577548	3	4	177	1	0	0	0	0	1	0	0	0	16442	652	23	1	557	1	TP53	17	7577548	Missense_Mutation	SNP	C	TCGA-E1-A7YW-01A-11D-A34J-08		7577548	73617662	24	24059											
MYO1F	4542	broad.mit.edu	37	19	8609329	8609329	+	Missense_Mutation	SNP	C	C	G			TCGA-E1-A7YW-01A-11D-A34J-08	TCGA-E1-A7YW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5face8a0-d58b-491f-ac0c-250debfcc4a8	215dcbc7-2a33-44a1-958b-4c41634a5a18	g.chr19:8609329C>G	ENST00000338257.8	-	14	1643	c.1376G>C	c.(1375-1377)aGc>aCc	p.S459T		NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN	myosin IF	459	Myosin head-like.					unconventional myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						GTCCAAGACGCTCATGATGCC	0.672													12	20					0	0	1	0	0	G	8609329	C	G	8609329	3	3	177	1	0	0	0	0	1	0	0	0	10121	797	28	4	1980	4	MYO1F	19	8609329	Missense_Mutation	SNP	C	TCGA-E1-A7YW-01A-11D-A34J-08		8609329	50519654	25	24060											
ZNF772	400720	broad.mit.edu	37	19	57985169	57985169	+	Missense_Mutation	SNP	T	T	C			TCGA-E1-A7YW-01A-11D-A34J-08	TCGA-E1-A7YW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5face8a0-d58b-491f-ac0c-250debfcc4a8	215dcbc7-2a33-44a1-958b-4c41634a5a18	g.chr19:57985169T>C	ENST00000343280.4	-	5	1203	c.943A>G	c.(943-945)Atc>Gtc	p.I315V	ZNF772_ENST00000600175.1_Intron|ZNF772_ENST00000425074.3_3'UTR|AC004076.9_ENST00000596831.1_Intron|ZNF772_ENST00000601768.1_Intron|AC004076.9_ENST00000415705.3_Intron|ZNF772_ENST00000427512.2_Missense_Mutation_p.I203V|ZNF772_ENST00000356584.3_Missense_Mutation_p.I274V	NM_001024596.2	NP_001019767.1	Q68DY9	ZN772_HUMAN	zinc finger protein 772	315					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(4)|lung(3)	9		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;0.026)|Lung(386;0.174)		CCAGTGTGGATTCTCTGGTGC	0.448													11	146					0	0	1	0	0	C	57985169	T	C	57985169	3	2	177	1	0	0	0	0	1	0	0	0	18194	1493	52	3	530	3	ZNF772	19	57985169	Missense_Mutation	SNP	T	TCGA-E1-A7YW-01A-11D-A34J-08	49375840	57985169	1143814	26	24061											
CDK5RAP1	51654	broad.mit.edu	37	20	31958332	31958333	+	Frame_Shift_Ins	INS	-	-	CC			TCGA-E1-A7YW-01A-11D-A34J-08	TCGA-E1-A7YW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5face8a0-d58b-491f-ac0c-250debfcc4a8	215dcbc7-2a33-44a1-958b-4c41634a5a18	g.chr20:31958332_31958333insCC	ENST00000357886.4	-	12	1559_1560	c.1406_1407insGG	c.(1405-1407)ggcfs	p.G469fs	CDK5RAP1_ENST00000339269.5_Frame_Shift_Ins_p.G378fs|CDK5RAP1_ENST00000346416.2_Frame_Shift_Ins_p.G455fs|CDK5RAP1_ENST00000473997.1_Frame_Shift_Ins_p.G365fs|CDK5RAP1_ENST00000544843.1_Intron			Q96SZ6	CK5P1_HUMAN	CDK5 regulatory subunit associated protein 1	469					brain development|negative regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation|tRNA modification	cytoplasm	4 iron, 4 sulfur cluster binding|metal ion binding|neuronal Cdc2-like kinase binding|transferase activity			endometrium(2)|kidney(2)|large_intestine(3)|lung(12)|ovary(3)|skin(3)|urinary_tract(1)	26						CAAAGAGGAAGCCCATGTTGTA	0.545													48	97	---	---	---	---						CC	31958333	-	CC	31958332	7	5	177	1	0	1	1	0	0	0	0	0	3167	958	34	0	414	0	CDK5RAP1	20	31958332	Frame_Shift_Ins	INS	-	TCGA-E1-A7YW-01A-11D-A34J-08		31958332	31067188	27	24062											
NCOA6	23054	broad.mit.edu	37	20	33364209	33364209	+	Missense_Mutation	SNP	C	C	A			TCGA-E1-A7YW-01A-11D-A34J-08	TCGA-E1-A7YW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5face8a0-d58b-491f-ac0c-250debfcc4a8	215dcbc7-2a33-44a1-958b-4c41634a5a18	g.chr20:33364209C>A	ENST00000374796.2	-	5	2848	c.278G>T	c.(277-279)aGc>aTc	p.S93I	NCOA6_ENST00000359003.2_Missense_Mutation_p.S93I			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	93	CREBBP-binding region.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						CACACGCACGCTGTTCCAGGG	0.488													4	87					0.014758	0.014758	1	1	0	A	33364209	C	A	33364209	3	1	177	1	0	0	0	0	1	0	0	0	10280	797	28	4	5961	4	NCOA6	20	33364209	Missense_Mutation	SNP	C	TCGA-E1-A7YW-01A-11D-A34J-08	1405877	33364209	29661311	28	24063											
ATRX	546	broad.mit.edu	37	X	76937426	76937426	+	Frame_Shift_Del	DEL	A	A	-			TCGA-E1-A7YW-01A-11D-A34J-08	TCGA-E1-A7YW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5face8a0-d58b-491f-ac0c-250debfcc4a8	215dcbc7-2a33-44a1-958b-4c41634a5a18	g.chrX:76937426delA	ENST00000373344.5	-	9	3536	c.3322delT	c.(3322-3324)tcafs	p.S1110fs	ATRX_ENST00000395603.3_Frame_Shift_Del_p.S1072fs|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1110					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)	TCAGATGATGAACAATCTTGT	0.353			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						99	40	---	---	---	---						-	76937426	A	-	76937426	7	5	177	1	0	1	0	1	0	0	0	0	1206	246	9	0	4264	0	ATRX	23	76937426	Frame_Shift_Del	DEL	A	TCGA-E1-A7YW-01A-11D-A34J-08		76937426	78333134	29	24064											
FAM199X	139231	broad.mit.edu	37	X	103411655	103411655	+	Silent	SNP	C	C	T			TCGA-E1-A7YW-01A-11D-A34J-08	TCGA-E1-A7YW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5face8a0-d58b-491f-ac0c-250debfcc4a8	215dcbc7-2a33-44a1-958b-4c41634a5a18	g.chrX:103411655C>T	ENST00000493442.1	+	1	355	c.189C>T	c.(187-189)caC>caT	p.H63H		NM_207318.3	NP_997201.1	Q6PEV8	F199X_HUMAN	family with sequence similarity 199, X-linked	63										breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(1)	11						ACCGCTTCCACACCAACAGGT	0.672													3	21					0	0	1	0	0	T	103411655	C	T	103411655	2	4	177	1	0	0	0	0	0	0	0	1	5562	477	17	2		2	FAM199X	23	103411655	Silent	SNP	C	TCGA-E1-A7YW-01A-11D-A34J-08	26474229	103411655	51858905	30	24065											
RASGRP3	25780	broad.mit.edu	37	2	33747057	33747057	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YY-01A-11D-A34J-08	TCGA-E1-A7YY-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2415587-d4b6-4b6b-983f-8c3017ba2f09	ac126c0b-e17f-481c-8331-dc355f8ae993	g.chr2:33747057G>A	ENST00000403687.3	+	7	1144	c.404G>A	c.(403-405)aGg>aAg	p.R135K	RASGRP3_ENST00000407811.1_Missense_Mutation_p.R135K|RASGRP3_ENST00000402538.3_Missense_Mutation_p.R135K	NM_001139488.1	NP_001132960.1	Q8IV61	GRP3_HUMAN	RAS guanyl releasing protein 3 (calcium and DAG-regulated)	135					MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity|protein binding|Rap GTPase activator activity|signal transducer activity			large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|stomach(2)	11	all_hematologic(175;0.115)					GTCACACAGAGGAAAAAAGTA	0.418													8	86					0	0	1	0	0	A	33747057	G	A	33747057	3	1	178	1	0	0	0	0	1	0	0	0	13128	1000	35	2	422	2	RASGRP3	2	33747057	Missense_Mutation	SNP	G	TCGA-E1-A7YY-01A-11D-A34J-08		33747057	209452316	1	24066											
REG3G	130120	broad.mit.edu	37	2	79255361	79255361	+	Missense_Mutation	SNP	T	T	A			TCGA-E1-A7YY-01A-11D-A34J-08	TCGA-E1-A7YY-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2415587-d4b6-4b6b-983f-8c3017ba2f09	ac126c0b-e17f-481c-8331-dc355f8ae993	g.chr2:79255361T>A	ENST00000272324.5	+	6	671	c.487T>A	c.(487-489)Tgt>Agt	p.C163S	REG3G_ENST00000393897.2_Missense_Mutation_p.C163S|REG3G_ENST00000409471.1_Missense_Mutation_p.C117S	NM_001008387.2	NP_001008388.1	Q6UW15	REG3G_HUMAN	regenerating islet-derived 3 gamma	163	C-type lectin.				acute-phase response	extracellular region	sugar binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(27)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						AGATTATAACTGTGATGCAAA	0.488													3	52					0	0	1	0	0	A	79255361	T	A	79255361	3	1	178	1	0	0	0	0	1	0	0	0	13265	1580	55	5	505	5	REG3G	2	79255361	Missense_Mutation	SNP	T	TCGA-E1-A7YY-01A-11D-A34J-08	45508304	79255361	163944012	2	24067											
KRCC1	51315	broad.mit.edu	37	2	88327833	88327833	+	Missense_Mutation	SNP	G	G	A	rs148657110		TCGA-E1-A7YY-01A-11D-A34J-08	TCGA-E1-A7YY-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2415587-d4b6-4b6b-983f-8c3017ba2f09	ac126c0b-e17f-481c-8331-dc355f8ae993	g.chr2:88327833G>A	ENST00000347055.3	-	4	643	c.250C>T	c.(250-252)Cgg>Tgg	p.R84W		NM_016618.1	NP_057702.1	Q9NPI7	KRCC1_HUMAN	lysine-rich coiled-coil 1	84										cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)	7						TGAGGCAACCGATTTTCCACT	0.463													3	69					0	0	1	0	0	A	88327833	G	A	88327833	3	1	178	1	0	0	0	0	1	0	0	0	8484	1057	37	1	533	1	KRCC1	2	88327833	Missense_Mutation	SNP	G	TCGA-E1-A7YY-01A-11D-A34J-08	9072472	88327833	154871540	3	24068											
CHRNA1	1134	broad.mit.edu	37	2	175618969	175618969	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YY-01A-11D-A34J-08	TCGA-E1-A7YY-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2415587-d4b6-4b6b-983f-8c3017ba2f09	ac126c0b-e17f-481c-8331-dc355f8ae993	g.chr2:175618969C>T	ENST00000348749.5	-	5	595	c.518G>A	c.(517-519)gGc>gAc	p.G173D	CHRNA1_ENST00000409542.1_Missense_Mutation_p.G91D|CHRNA1_ENST00000409323.1_Missense_Mutation_p.G173D|CHRNA1_ENST00000409219.1_Missense_Mutation_p.G173D|CHRNA1_ENST00000261007.5_Missense_Mutation_p.G198D|AC018890.6_ENST00000442996.1_RNA	NM_000079.3	NP_000070.1	P02708	ACHA_HUMAN	cholinergic receptor, nicotinic, alpha 1 (muscle)	198					muscle cell homeostasis|neuromuscular junction development|neuromuscular process|neuromuscular synaptic transmission|neuron homeostasis|regulation of action potential in neuron|skeletal muscle contraction|skeletal muscle tissue growth	cell junction|cell surface|neuromuscular junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(3)|prostate(3)|skin(4)	37						CACGACAGAGCCGTCGTAGGT	0.502													3	49					0	0	1	0	0	T	175618969	C	T	175618969	3	4	178	1	0	0	0	0	1	0	0	0	3403	739	26	2	875	2	CHRNA1	2	175618969	Missense_Mutation	SNP	C	TCGA-E1-A7YY-01A-11D-A34J-08	87291136	175618969	67580404	4	24069											
HOXD1	3231	broad.mit.edu	37	2	177054653	177054653	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YY-01A-11D-A34J-08	TCGA-E1-A7YY-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2415587-d4b6-4b6b-983f-8c3017ba2f09	ac126c0b-e17f-481c-8331-dc355f8ae993	g.chr2:177054653C>T	ENST00000331462.4	+	2	993	c.770C>T	c.(769-771)gCc>gTc	p.A257V		NM_024501.2	NP_078777.1	Q9GZZ0	HXD1_HUMAN	homeobox D1	257						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)	10			OV - Ovarian serous cystadenocarcinoma(117;0.00569)|Epithelial(96;0.0864)|all cancers(119;0.226)	Colorectal(32;0.0226)		TTAACTCGAGCCCGGCGCATC	0.502													8	134					0	0	1	0	0	T	177054653	C	T	177054653	3	4	178	1	0	0	0	0	1	0	0	0	7359	739	26	2	776	2	HOXD1	2	177054653	Missense_Mutation	SNP	C	TCGA-E1-A7YY-01A-11D-A34J-08	1435684	177054653	66144720	5	24070											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-E1-A7YY-01A-11D-A34J-08	TCGA-E1-A7YY-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2415587-d4b6-4b6b-983f-8c3017ba2f09	ac126c0b-e17f-481c-8331-dc355f8ae993	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								10	64					0	0	1	0	0	T	209113112	C	T	209113112	3	4	178	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-E1-A7YY-01A-11D-A34J-08	32058459	209113112	34086261	6	24071											
TKTL2	84076	broad.mit.edu	37	4	164393861	164393861	+	Silent	SNP	C	C	A			TCGA-E1-A7YY-01A-11D-A34J-08	TCGA-E1-A7YY-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2415587-d4b6-4b6b-983f-8c3017ba2f09	ac126c0b-e17f-481c-8331-dc355f8ae993	g.chr4:164393861C>A	ENST00000280605.3	-	1	1186	c.1026G>T	c.(1024-1026)ctG>ctT	p.L342L		NM_032136.4	NP_115512.3	Q9H0I9	TKTL2_HUMAN	transketolase-like 2	342						cytoplasm	metal ion binding|transketolase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				TGTCACCACTCAGaacaataa	0.428													5	100					0.0215528	0.0227501	1	1	0	A	164393861	C	A	164393861	2	1	178	1	0	0	0	0	0	0	0	1	15996	813	29	5		5	TKTL2	4	164393861	Silent	SNP	C	TCGA-E1-A7YY-01A-11D-A34J-08		164393861	26760415	7	24072											
SLC12A7	10723	broad.mit.edu	37	5	1078124	1078125	+	Splice_Site	INS	-	-	GCAG			TCGA-E1-A7YY-01A-11D-A34J-08	TCGA-E1-A7YY-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2415587-d4b6-4b6b-983f-8c3017ba2f09	ac126c0b-e17f-481c-8331-dc355f8ae993	g.chr5:1078124_1078125insGCAG	ENST00000264930.5	-	12	1498		c.e12-2			NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 7						potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	TCCCCGAACCTgcaggcaggcg	0.673													3	3	---	---	---	---						GCAG	1078125	-	GCAG	1078124	8	5	178	1	0	1	1	0	0	0	1	0	14443	1594	55	0	1850	0	SLC12A7	5	1078124	Splice_Site	INS	-	TCGA-E1-A7YY-01A-11D-A34J-08		1078124	179837136	8	24073											
ACBD5	91452	broad.mit.edu	37	10	27499972	27499972	+	Silent	SNP	C	C	T			TCGA-E1-A7YY-01A-11D-A34J-08	TCGA-E1-A7YY-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2415587-d4b6-4b6b-983f-8c3017ba2f09	ac126c0b-e17f-481c-8331-dc355f8ae993	g.chr10:27499972C>T	ENST00000396271.3	-	9	1101	c.975G>A	c.(973-975)caG>caA	p.Q325Q	ACBD5_ENST00000375905.4_Silent_p.Q290Q|ACBD5_ENST00000375901.1_Silent_p.Q216Q|ACBD5_ENST00000476758.1_5'UTR|ACBD5_ENST00000375888.1_Silent_p.Q334Q|ACBD5_ENST00000375897.3_Silent_p.Q148Q	NM_001271512.1|NM_145698.3	NP_001258441.1|NP_663736.2	Q5T8D3	ACBD5_HUMAN	acyl-CoA binding domain containing 5	334					transport	integral to membrane|peroxisomal membrane	fatty-acyl-CoA binding			breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						CCAAGTAATACTGAAATGGTC	0.373													8	68					0	0	1	0	0	T	27499972	C	T	27499972	2	4	178	1	0	0	0	0	0	0	0	1	125	564	20	2		2	ACBD5	10	27499972	Silent	SNP	C	TCGA-E1-A7YY-01A-11D-A34J-08		27499972	108034775	9	24074											
TAOK2	9344	broad.mit.edu	37	16	29994404	29994404	+	Silent	SNP	C	C	G			TCGA-E1-A7YY-01A-11D-A34J-08	TCGA-E1-A7YY-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2415587-d4b6-4b6b-983f-8c3017ba2f09	ac126c0b-e17f-481c-8331-dc355f8ae993	g.chr16:29994404C>G	ENST00000308893.4	+	12	2054	c.1011C>G	c.(1009-1011)ccC>ccG	p.P337P	TAOK2_ENST00000279394.3_Silent_p.P337P|TAOK2_ENST00000543033.1_Silent_p.P337P|TAOK2_ENST00000416441.2_Silent_p.P164P	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	337					actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						AGGCCGAGCCCTACATGCACC	0.632													8	143					0	0	1	0	0	G	29994404	C	G	29994404	2	3	178	1	0	0	0	0	0	0	0	1	15605	668	24	4		4	TAOK2	16	29994404	Silent	SNP	C	TCGA-E1-A7YY-01A-11D-A34J-08		29994404	60360349	10	24075											
FAM65A	79567	broad.mit.edu	37	16	67575406	67575406	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YY-01A-11D-A34J-08	TCGA-E1-A7YY-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2415587-d4b6-4b6b-983f-8c3017ba2f09	ac126c0b-e17f-481c-8331-dc355f8ae993	g.chr16:67575406C>T	ENST00000540839.3	+	12	1155	c.935C>T	c.(934-936)gCc>gTc	p.A312V	FAM65A_ENST00000379312.3_Missense_Mutation_p.A296V|FAM65A_ENST00000428437.2_Missense_Mutation_p.A306V|FAM65A_ENST00000042381.4_Missense_Mutation_p.A292V|FAM65A_ENST00000422602.2_Missense_Mutation_p.A312V			Q6ZS17	FA65A_HUMAN	family with sequence similarity 65, member A	296						cytoplasm	binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)		GACCTGTTTGCCGCCCTGCCC	0.572													4	163					0	0	1	0	0	T	67575406	C	T	67575406	3	4	178	1	0	0	0	0	1	0	0	0	5634	739	26	2	913	2	FAM65A	16	67575406	Missense_Mutation	SNP	C	TCGA-E1-A7YY-01A-11D-A34J-08	37581002	67575406	22779347	11	24076											
PLCG2	5336	broad.mit.edu	37	16	81953130	81953130	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YY-01A-11D-A34J-08	TCGA-E1-A7YY-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2415587-d4b6-4b6b-983f-8c3017ba2f09	ac126c0b-e17f-481c-8331-dc355f8ae993	g.chr16:81953130G>A	ENST00000359376.3	+	20	2310	c.2096G>A	c.(2095-2097)gGc>gAc	p.G699D		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	699	SH2 2.				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						AACCGGGACGGCCGGCACTTT	0.532													7	76					0	0	1	0	0	A	81953130	G	A	81953130	3	1	178	1	0	0	0	0	1	0	0	0	12084	1203	42	2	2170	2	PLCG2	16	81953130	Missense_Mutation	SNP	G	TCGA-E1-A7YY-01A-11D-A34J-08	14377724	81953130	8401623	12	24077											
CIC	23152	broad.mit.edu	37	19	42791715	42791715	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YY-01A-11D-A34J-08	TCGA-E1-A7YY-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2415587-d4b6-4b6b-983f-8c3017ba2f09	ac126c0b-e17f-481c-8331-dc355f8ae993	g.chr19:42791715C>T	ENST00000572681.2	+	6	3396	c.3328C>T	c.(3328-3330)Cgg>Tgg	p.R1110W	CIC_ENST00000575354.2_Missense_Mutation_p.R201W|CIC_ENST00000160740.3_Missense_Mutation_p.R201W			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	201	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	p.R201W(1)		autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				GGACCACATCCGGCGGCCCAT	0.622			"Mis, F, S"		oligodendroglioma								4	37					0	0	1	0	0	T	42791715	C	T	42791715	3	4	178	1	0	0	0	0	1	0	0	0	3446	643	23	1	619	1	CIC	19	42791715	Missense_Mutation	SNP	C	TCGA-E1-A7YY-01A-11D-A34J-08		42791715	16337268	13	24078											
PRR12	57479	broad.mit.edu	37	19	50100465	50100465	+	Frame_Shift_Del	DEL	C	C	-			TCGA-E1-A7YY-01A-11D-A34J-08	TCGA-E1-A7YY-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2415587-d4b6-4b6b-983f-8c3017ba2f09	ac126c0b-e17f-481c-8331-dc355f8ae993	g.chr19:50100465delC	ENST00000418929.2	+	4	2885	c.2873delC	c.(2872-2874)gccfs	p.A959fs		NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN	proline rich 12	138							DNA binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		GGTGGAGGGGCCGCGGACGAC	0.672													2	4	---	---	---	---						-	50100465	C	-	50100465	7	5	178	1	0	1	0	1	0	0	0	0	12636	739	26	0	2887	0	PRR12	19	50100465	Frame_Shift_Del	DEL	C	TCGA-E1-A7YY-01A-11D-A34J-08	7308750	50100465	9028518	14	24079											
AMMECR1	9949	broad.mit.edu	37	X	109459810	109459810	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YY-01A-11D-A34J-08	TCGA-E1-A7YY-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2415587-d4b6-4b6b-983f-8c3017ba2f09	ac126c0b-e17f-481c-8331-dc355f8ae993	g.chrX:109459810C>T	ENST00000262844.5	-	3	802	c.635G>A	c.(634-636)cGg>cAg	p.R212Q	AMMECR1_ENST00000372057.1_Missense_Mutation_p.R89Q|AMMECR1_ENST00000372059.2_Missense_Mutation_p.R175Q	NM_015365.2	NP_056180.1	Q9Y4X0	AMER1_HUMAN	Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1	212	AMMECR1.									large_intestine(1)|lung(4)|ovary(1)|stomach(1)	7						GCAGAAAAGCCGTGGCAGCTC	0.378													3	58					0	0	1	0	0	T	109459810	C	T	109459810	3	4	178	1	0	0	0	0	1	0	0	0	574	652	23	1	382	1	AMMECR1	23	109459810	Missense_Mutation	SNP	C	TCGA-E1-A7YY-01A-11D-A34J-08		109459810	45810750	15	24080											
WDR44	54521	broad.mit.edu	37	X	117582883	117582885	+	In_Frame_Del	DEL	TTC	TTC	-			TCGA-E1-A7YY-01A-11D-A34J-08	TCGA-E1-A7YY-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2415587-d4b6-4b6b-983f-8c3017ba2f09	ac126c0b-e17f-481c-8331-dc355f8ae993	g.chrX:117582883_117582885delTTC	ENST00000254029.3	+	20	3070_3072	c.2675_2677delTTC	c.(2674-2679)gttctt>gtt	p.L894del	WDR44_ENST00000371822.5_In_Frame_Del_p.L805del|WDR44_ENST00000371825.3_In_Frame_Del_p.L886del	NM_019045.4	NP_061918.3	Q5JSH3	WDR44_HUMAN	WD repeat domain 44	894						cytosol|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm				breast(4)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	33						AACACAGAAGTTCTTCTCTCTGC	0.286													7	61	---	---	---	---						-	117582885	TTC	-	117582883	7	5	178	1	0	1	0	1	0	0	0	0	17356	1725	60	0	2753	0	WDR44	23	117582883	In_Frame_Del	DEL	TTC	TCGA-E1-A7YY-01A-11D-A34J-08	8123073	117582883	37687677	16	24081											
SLC6A17	388662	broad.mit.edu	37	1	110741027	110741027	+	Silent	SNP	C	C	T	rs151260028		TCGA-E1-A7Z2-01A-21D-A34J-08	TCGA-E1-A7Z2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53d89c8c-9732-4d1b-9cf3-49f1fb294853	2fc2d89c-126c-4a1f-987f-aa357fc63c67	g.chr1:110741027C>T	ENST00000331565.4	+	12	2630	c.2145C>T	c.(2143-2145)agC>agT	p.S715S		NM_001010898.2	NP_001010898.1	Q9H1V8	S6A17_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 17	715					alanine transport|glycine transport|leucine transport|proline transport	cell junction|integral to plasma membrane|synaptic vesicle membrane	neurotransmitter:sodium symporter activity			breast(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37		all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151)		GCTATGGGAGCGGCTACCTGC	0.667													31	46					0	0	1	0	0	T	110741027	C	T	110741027	2	4	179	1	0	0	0	0	0	0	0	1	14735	767	27	1		1	SLC6A17	1	110741027	Silent	SNP	C	TCGA-E1-A7Z2-01A-21D-A34J-08		110741027	138509594	1	24082											
OBSCN	84033	broad.mit.edu	37	1	228471427	228471427	+	Silent	SNP	C	C	T			TCGA-E1-A7Z2-01A-21D-A34J-08	TCGA-E1-A7Z2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53d89c8c-9732-4d1b-9cf3-49f1fb294853	2fc2d89c-126c-4a1f-987f-aa357fc63c67	g.chr1:228471427C>T	ENST00000570156.2	+	38	10322	c.10248C>T	c.(10246-10248)tgC>tgT	p.C3416C	OBSCN_ENST00000422127.1_Silent_p.C2987C|OBSCN_ENST00000366707.4_Silent_p.C106C|OBSCN_ENST00000366709.4_Silent_p.C106C|OBSCN_ENST00000284548.11_Silent_p.C2987C|OBSCN_ENST00000359599.6_Silent_p.C1834C	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	2451	Ig-like 34.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	p.C3270C(1)|p.C3041C(1)		NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CCTATACCTGCGACATTGGCC	0.647													32	77					0	0	1	0	0	T	228471427	C	T	228471427	2	4	179	1	0	0	0	0	0	0	0	1	10860	776	27	1		1	OBSCN	1	228471427	Silent	SNP	C	TCGA-E1-A7Z2-01A-21D-A34J-08	117730400	228471427	20779194	2	24083											
KCNS3	3790	broad.mit.edu	37	2	18112378	18112378	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7Z2-01A-21D-A34J-08	TCGA-E1-A7Z2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53d89c8c-9732-4d1b-9cf3-49f1fb294853	2fc2d89c-126c-4a1f-987f-aa357fc63c67	g.chr2:18112378C>T	ENST00000403915.1	+	3	554	c.103C>T	c.(103-105)Cgg>Tgg	p.R35W	KCNS3_ENST00000304101.4_Missense_Mutation_p.R35W|KCNS3_ENST00000465292.1_Intron	NM_001282428.1	NP_001269357.1	Q9BQ31	KCNS3_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 3	35					energy reserve metabolic process|regulation of insulin secretion	Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium channel regulator activity			endometrium(5)|kidney(1)|large_intestine(7)|lung(11)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					CACCCTCCTGCGGTTTCCTCA	0.512													40	77					0	0	1	0	0	T	18112378	C	T	18112378	3	4	179	1	0	0	0	0	1	0	0	0	8134	759	27	1	105	1	KCNS3	2	18112378	Missense_Mutation	SNP	C	TCGA-E1-A7Z2-01A-21D-A34J-08		18112378	225086995	3	24084											
PTPRG	5793	broad.mit.edu	37	3	62153675	62153675	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7Z2-01A-21D-A34J-08	TCGA-E1-A7Z2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53d89c8c-9732-4d1b-9cf3-49f1fb294853	2fc2d89c-126c-4a1f-987f-aa357fc63c67	g.chr3:62153675G>A	ENST00000474889.1	+	8	1248	c.871G>A	c.(871-873)Gag>Aag	p.E291K	PTPRG_ENST00000295874.10_Missense_Mutation_p.E291K	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	291	Alpha-carbonic anhydrase.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	identical protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		CTTCACCACGGAGCAGCAAGA	0.478													40	84					0	0	1	0	0	A	62153675	G	A	62153675	3	1	179	1	0	0	0	0	1	0	0	0	12854	1175	41	2	901	2	PTPRG	3	62153675	Missense_Mutation	SNP	G	TCGA-E1-A7Z2-01A-21D-A34J-08		62153675	135868755	4	24085											
ALG3	10195	broad.mit.edu	37	3	183963520	183963520	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7Z2-01A-21D-A34J-08	TCGA-E1-A7Z2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53d89c8c-9732-4d1b-9cf3-49f1fb294853	2fc2d89c-126c-4a1f-987f-aa357fc63c67	g.chr3:183963520C>T	ENST00000455059.1	-	2	611	c.157G>A	c.(157-159)Ggt>Agt	p.G53S	ALG3_ENST00000445626.2_Missense_Mutation_p.G45S|EIF2B5_ENST00000444495.1_Intron|ALG3_ENST00000397676.3_Missense_Mutation_p.G93S|ALG3_ENST00000418734.2_Intron			Q92685	ALG3_HUMAN	ALG3, alpha-1,3- mannosyltransferase	93					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	alpha-1,3-mannosyltransferase activity			kidney(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	9	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CCGGTGTCACCCTGCAGTTGG	0.522													26	27					0	0	1	0	0	T	183963520	C	T	183963520	3	4	179	1	0	0	0	0	1	0	0	0	516	623	22	2	1071	2	ALG3	3	183963520	Missense_Mutation	SNP	C	TCGA-E1-A7Z2-01A-21D-A34J-08	121809845	183963520	14058910	5	24086											
MED28	80306	broad.mit.edu	37	4	17616293	17616293	+	Missense_Mutation	SNP	G	G	C			TCGA-E1-A7Z2-01A-21D-A34J-08	TCGA-E1-A7Z2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53d89c8c-9732-4d1b-9cf3-49f1fb294853	2fc2d89c-126c-4a1f-987f-aa357fc63c67	g.chr4:17616293G>C	ENST00000237380.7	+	1	40	c.16G>C	c.(16-18)Ggg>Cgg	p.G6R		NM_025205.3	NP_079481.2	Q9H204	MED28_HUMAN	mediator complex subunit 28						regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|membrane|nucleus	actin binding			lung(6)|skin(2)	8						GGCTCCACTAGGGGGTATGTT	0.652													19	48					0	0	1	0	0	C	17616293	G	C	17616293	3	2	179	1	0	0	0	0	1	0	0	0	9496	1000	35	4	18	4	MED28	4	17616293	Missense_Mutation	SNP	G	TCGA-E1-A7Z2-01A-21D-A34J-08		17616293	173537983	6	24087											
NAA11	84779	broad.mit.edu	37	4	80246705	80246705	+	Silent	SNP	C	C	A			TCGA-E1-A7Z2-01A-21D-A34J-08	TCGA-E1-A7Z2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53d89c8c-9732-4d1b-9cf3-49f1fb294853	2fc2d89c-126c-4a1f-987f-aa357fc63c67	g.chr4:80246705C>A	ENST00000286794.4	-	1	499	c.327G>T	c.(325-327)ctG>ctT	p.L109L		NM_032693.2	NP_116082.1	Q9BSU3	NAA11_HUMAN	N(alpha)-acetyltransferase 11, NatA catalytic subunit	109	N-acetyltransferase.					cytoplasm|nucleus	peptide alpha-N-acetyltransferase activity|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|skin(2)	23						TCCTGACGTGCAGAGACACGT	0.532													19	37					5.35267e-07	5.78088e-07	1	1	0	A	80246705	C	A	80246705	2	1	179	1	0	0	0	0	0	0	0	1	10165	697	25	5		5	NAA11	4	80246705	Silent	SNP	C	TCGA-E1-A7Z2-01A-21D-A34J-08	62630412	80246705	110907571	7	24088											
IBSP	3381	broad.mit.edu	37	4	88723847	88723847	+	Silent	SNP	C	C	T			TCGA-E1-A7Z2-01A-21D-A34J-08	TCGA-E1-A7Z2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53d89c8c-9732-4d1b-9cf3-49f1fb294853	2fc2d89c-126c-4a1f-987f-aa357fc63c67	g.chr4:88723847C>T	ENST00000226284.5	+	4	214	c.147C>T	c.(145-147)gcC>gcT	p.A49A		NM_004967.3	NP_004958.2	P21815	SIAL_HUMAN	integrin-binding sialoprotein	49					biomineral tissue development|cell adhesion|ossification					breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)	21		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000333)|COAD - Colon adenocarcinoma(81;0.154)		ACAAGCATGCCTACTTTTATC	0.259													17	33					0	0	1	0	0	T	88723847	C	T	88723847	2	4	179	1	0	0	0	0	0	0	0	1	7519	668	24	2		2	IBSP	4	88723847	Silent	SNP	C	TCGA-E1-A7Z2-01A-21D-A34J-08	8477142	88723847	102430429	8	24089											
RASGEF1C	255426	broad.mit.edu	37	5	179563505	179563505	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7Z2-01A-21D-A34J-08	TCGA-E1-A7Z2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53d89c8c-9732-4d1b-9cf3-49f1fb294853	2fc2d89c-126c-4a1f-987f-aa357fc63c67	g.chr5:179563505C>T	ENST00000393371.2	-	3	607	c.311G>A	c.(310-312)cGg>cAg	p.R104Q	RASGEF1C_ENST00000361132.4_Missense_Mutation_p.R104Q|RASGEF1C_ENST00000522500.1_5'UTR			Q8N431	RGF1C_HUMAN	RasGEF domain family, member 1C	104	N-terminal Ras-GEF.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity			breast(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|stomach(1)	12	all_cancers(89;3.44e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0242)|Medulloblastoma(196;0.00498)|all_neural(177;0.0137)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCCGAACTTCCGGACCCGGGC	0.687													5	7					0	0	1	0	0	T	179563505	C	T	179563505	3	4	179	1	0	0	0	0	1	0	0	0	13123	652	23	1	1133	1	RASGEF1C	5	179563505	Missense_Mutation	SNP	C	TCGA-E1-A7Z2-01A-21D-A34J-08		179563505	1351755	9	24090											
EGFR	1956	broad.mit.edu	37	7	55210075	55210075	+	Missense_Mutation	SNP	T	T	G			TCGA-E1-A7Z2-01A-21D-A34J-08	TCGA-E1-A7Z2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53d89c8c-9732-4d1b-9cf3-49f1fb294853	2fc2d89c-126c-4a1f-987f-aa357fc63c67	g.chr7:55210075T>G	ENST00000275493.2	+	2	362	c.185T>G	c.(184-186)cTt>cGt	p.L62R	EGFR_ENST00000342916.3_Missense_Mutation_p.L62R|EGFR_ENST00000442591.1_Missense_Mutation_p.L62R|EGFR_ENST00000344576.2_Missense_Mutation_p.L62R|EGFR_ENST00000420316.2_Missense_Mutation_p.L62R|EGFR_ENST00000454757.2_Missense_Mutation_p.L9R|EGFR_ENST00000455089.1_Missense_Mutation_p.L62R	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	62					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.L62R(3)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	GAGGTGGTCCTTGGGAATTTG	0.408		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			44	167					0	0	1	0	0	G	55210075	T	G	55210075	3	3	179	1	0	0	0	0	1	0	0	0	4993	1609	56	5	191	5	EGFR	7	55210075	Missense_Mutation	SNP	T	TCGA-E1-A7Z2-01A-21D-A34J-08		55210075	103928588	10	24091											
CUX1	1523	broad.mit.edu	37	7	101459365	101459365	+	Nonsense_Mutation	SNP	C	C	T			TCGA-E1-A7Z2-01A-21D-A34J-08	TCGA-E1-A7Z2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53d89c8c-9732-4d1b-9cf3-49f1fb294853	2fc2d89c-126c-4a1f-987f-aa357fc63c67	g.chr7:101459365C>T	ENST00000360264.3	+	1	75	c.55C>T	c.(55-57)Cag>Tag	p.Q19*	CUX1_ENST00000547394.2_Nonsense_Mutation_p.Q19*|CUX1_ENST00000437600.4_Nonsense_Mutation_p.Q19*|CUX1_ENST00000393824.3_Nonsense_Mutation_p.Q19*|CUX1_ENST00000425244.2_Nonsense_Mutation_p.Q19*|CUX1_ENST00000292538.4_Nonsense_Mutation_p.Q19*	NM_001202543.1	NP_001189472.1	P39880	CUX1_HUMAN	cut-like homeobox 1	8					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						TGATTTACAGCAGCTGCAGGT	0.672													64	26					0	0	1	0	0	T	101459365	C	T	101459365	4	4	179	1	0	0	0	0	0	1	0	0	4087	711	25	2	57	2	CUX1	7	101459365	Nonsense_Mutation	SNP	C	TCGA-E1-A7Z2-01A-21D-A34J-08	46249290	101459365	57679298	11	24092											
OR2A5	393046	broad.mit.edu	37	7	143748419	143748419	+	Silent	SNP	A	A	C			TCGA-E1-A7Z2-01A-21D-A34J-08	TCGA-E1-A7Z2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53d89c8c-9732-4d1b-9cf3-49f1fb294853	2fc2d89c-126c-4a1f-987f-aa357fc63c67	g.chr7:143748419A>C	ENST00000408906.2	+	1	959	c.925A>C	c.(925-927)Aga>Cga	p.R309R		NM_012365.1	NP_036497.1	Q96R48	OR2A5_HUMAN	olfactory receptor, family 2, subfamily A, member 5	309					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(3)|large_intestine(5)|lung(23)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	38	Melanoma(164;0.0783)					GTGGAAACAGAGATCAAAGTG	0.473													28	20					0	0	1	0	0	C	143748419	A	C	143748419	2	2	179	1	0	0	0	0	0	0	0	1	11029	296	11	5		5	OR2A5	7	143748419	Silent	SNP	A	TCGA-E1-A7Z2-01A-21D-A34J-08	42289054	143748419	15390244	12	24093											
XRCC2	7516	broad.mit.edu	37	7	152345781	152345781	+	Missense_Mutation	SNP	G	G	C			TCGA-E1-A7Z2-01A-21D-A34J-08	TCGA-E1-A7Z2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53d89c8c-9732-4d1b-9cf3-49f1fb294853	2fc2d89c-126c-4a1f-987f-aa357fc63c67	g.chr7:152345781G>C	ENST00000359321.1	-	3	874	c.789C>G	c.(787-789)aaC>aaG	p.N263K	XRCC2_ENST00000495707.1_5'UTR	NM_005431.1	NP_005422.1	O43543	XRCC2_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 2	263					meiosis	nucleus	ATP binding|DNA binding|DNA-dependent ATPase activity			NS(1)|breast(1)|large_intestine(5)|liver(1)|lung(1)|prostate(2)	11		all_hematologic(28;0.0592)|Prostate(32;0.081)	OV - Ovarian serous cystadenocarcinoma(82;0.0423)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0429)		TTTTTAAACTGTTACTTTTTA	0.333								Homologous recombination					27	51					0	0	1	0	0	C	152345781	G	C	152345781	3	2	179	1	0	0	0	0	1	0	0	0	17513	1368	48	5	57	5	XRCC2	7	152345781	Missense_Mutation	SNP	G	TCGA-E1-A7Z2-01A-21D-A34J-08	8597362	152345781	6792882	13	24094											
RIMS2	9699	broad.mit.edu	37	8	105261789	105261789	+	Missense_Mutation	SNP	G	G	T			TCGA-E1-A7Z2-01A-21D-A34J-08	TCGA-E1-A7Z2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53d89c8c-9732-4d1b-9cf3-49f1fb294853	2fc2d89c-126c-4a1f-987f-aa357fc63c67	g.chr8:105261789G>T	ENST00000507740.1	+	20	3342	c.3106G>T	c.(3106-3108)Gta>Tta	p.V1036L	RIMS2_ENST00000436393.2_Missense_Mutation_p.V1240L|RIMS2_ENST00000406091.3_Missense_Mutation_p.V1222L|RIMS2_ENST00000262231.10_Missense_Mutation_p.V1061L|RIMS2_ENST00000339750.2_Missense_Mutation_p.V158L	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1284					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			TGGCCTTGTTGTAAAACCAGG	0.403										HNSCC(12;0.0054)			10	29					0.00829132	0.00829132	1	1	0	T	105261789	G	T	105261789	3	4	179	1	0	0	0	0	1	0	0	0	13420	1377	48	5	3946	5	RIMS2	8	105261789	Missense_Mutation	SNP	G	TCGA-E1-A7Z2-01A-21D-A34J-08		105261789	41102233	14	24095											
NEK6	10783	broad.mit.edu	37	9	127074826	127074826	+	Silent	SNP	G	G	A			TCGA-E1-A7Z2-01A-21D-A34J-08	TCGA-E1-A7Z2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53d89c8c-9732-4d1b-9cf3-49f1fb294853	2fc2d89c-126c-4a1f-987f-aa357fc63c67	g.chr9:127074826G>A	ENST00000373600.3	+	4	446	c.231G>A	c.(229-231)gcG>gcA	p.A77A	NEK6_ENST00000540326.1_Silent_p.A61A|NEK6_ENST00000545174.1_Silent_p.A43A|NEK6_ENST00000546191.1_Silent_p.A43A|NEK6_ENST00000539416.1_Silent_p.A68A|NEK6_ENST00000373603.1_Silent_p.A43A|NEK6_ENST00000394199.2_Silent_p.A77A|NEK6_ENST00000320246.5_Silent_p.A43A	NM_001145001.2	NP_001138473.1	Q9HC98	NEK6_HUMAN	NIMA-related kinase 6	43	Protein kinase.				apoptosis|cell division|chromosome segregation|mitosis|peptidyl-serine phosphorylation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of mitotic metaphase/anaphase transition	cytoplasm|nucleus	ATP binding|kinesin binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity|signal transducer activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)	15						GCTCGCTGGCGGACTTCCAGA	0.612													13	37					0	0	1	0	0	A	127074826	G	A	127074826	2	1	179	1	0	0	0	0	0	0	0	1	10375	1103	39	1		1	NEK6	9	127074826	Silent	SNP	G	TCGA-E1-A7Z2-01A-21D-A34J-08		127074826	14138605	15	24096											
ANKRD30A	91074	broad.mit.edu	37	10	37430975	37430975	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7Z2-01A-21D-A34J-08	TCGA-E1-A7Z2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53d89c8c-9732-4d1b-9cf3-49f1fb294853	2fc2d89c-126c-4a1f-987f-aa357fc63c67	g.chr10:37430975G>A	ENST00000374660.1	+	7	1081	c.982G>A	c.(982-984)Gca>Aca	p.A328T	ANKRD30A_ENST00000602533.1_Missense_Mutation_p.A328T|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.A328T			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	384						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						TAGGAAGATCGCATGGGAGAA	0.433													5	72					0	0	1	0	0	A	37430975	G	A	37430975	3	1	179	1	0	0	0	0	1	0	0	0	654	1087	38	1	1008	1	ANKRD30A	10	37430975	Missense_Mutation	SNP	G	TCGA-E1-A7Z2-01A-21D-A34J-08		37430975	98103772	16	24097											
GAL3ST3	89792	broad.mit.edu	37	11	65810541	65810541	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7Z2-01A-21D-A34J-08	TCGA-E1-A7Z2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53d89c8c-9732-4d1b-9cf3-49f1fb294853	2fc2d89c-126c-4a1f-987f-aa357fc63c67	g.chr11:65810541C>T	ENST00000312006.4	-	3	1014	c.733G>A	c.(733-735)Gac>Aac	p.D245N	GAL3ST3_ENST00000527878.1_Missense_Mutation_p.D245N	NM_033036.2	NP_149025.1	Q96A11	G3ST3_HUMAN	galactose-3-O-sulfotransferase 3	245					monosaccharide metabolic process|oligosaccharide metabolic process|poly-N-acetyllactosamine metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi cisterna membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|carbohydrate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity			kidney(1)|lung(9)|ovary(2)|skin(2)	14						AGCGACTCGTCGAAGTACTCG	0.692													35	46					0	0	1	0	0	T	65810541	C	T	65810541	3	4	179	1	0	0	0	0	1	0	0	0	6239	884	31	1	566	1	GAL3ST3	11	65810541	Missense_Mutation	SNP	C	TCGA-E1-A7Z2-01A-21D-A34J-08		65810541	69195975	17	24098											
ELMOD1	55531	broad.mit.edu	37	11	107521064	107521064	+	Frame_Shift_Del	DEL	T	T	-			TCGA-E1-A7Z2-01A-21D-A34J-08	TCGA-E1-A7Z2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53d89c8c-9732-4d1b-9cf3-49f1fb294853	2fc2d89c-126c-4a1f-987f-aa357fc63c67	g.chr11:107521064delT	ENST00000265840.7	+	8	823	c.558delT	c.(556-558)tatfs	p.Y186fs	ELMOD1_ENST00000443271.2_Frame_Shift_Del_p.Y186fs|ELMOD1_ENST00000531234.1_Frame_Shift_Del_p.Y180fs	NM_018712.3	NP_061182.3	Q8N336	ELMD1_HUMAN	ELMO/CED-12 domain containing 1	186	ELMO.				phagocytosis	cytoskeleton	GTPase activator activity			endometrium(2)|large_intestine(5)|liver(2)|lung(7)|pancreas(2)|prostate(1)	19		Melanoma(852;0.000288)|Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00301)|all_epithelial(67;0.00304)|Breast(348;0.104)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Epithelial(105;0.00027)|all cancers(92;0.00481)		GCTGCAGGTATTTCGCGGAAA	0.413													2	4	---	---	---	---						-	107521064	T	-	107521064	7	5	179	1	0	1	0	1	0	0	0	0	5096	1500	52	0	584	0	ELMOD1	11	107521064	Frame_Shift_Del	DEL	T	TCGA-E1-A7Z2-01A-21D-A34J-08	41710523	107521064	27485452	18	24099											
CDON	50937	broad.mit.edu	37	11	125887050	125887050	+	Silent	SNP	G	G	A			TCGA-E1-A7Z2-01A-21D-A34J-08	TCGA-E1-A7Z2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53d89c8c-9732-4d1b-9cf3-49f1fb294853	2fc2d89c-126c-4a1f-987f-aa357fc63c67	g.chr11:125887050G>A	ENST00000392693.3	-	6	988	c.861C>T	c.(859-861)aaC>aaT	p.N287N	CDON_ENST00000263577.7_Silent_p.N287N	NM_001243597.1|NM_016952.4	NP_001230526.1|NP_058648.4	Q4KMG0	CDON_HUMAN	cell adhesion associated, oncogene regulated	287	Ig-like C2-type 3.				cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	protein binding			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(9)|ovary(3)|prostate(2)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	61	all_hematologic(175;0.177)	Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604)		TGCAGGAATAGTTTCCGGAGT	0.428													28	43					0	0	1	0	0	A	125887050	G	A	125887050	2	1	179	1	0	0	0	0	0	0	0	1	3192	1020	36	2		2	CDON	11	125887050	Silent	SNP	G	TCGA-E1-A7Z2-01A-21D-A34J-08	18365986	125887050	9119466	19	24100											
RNF113B	140432	broad.mit.edu	37	13	98828793	98828793	+	Missense_Mutation	SNP	C	C	A			TCGA-E1-A7Z2-01A-21D-A34J-08	TCGA-E1-A7Z2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53d89c8c-9732-4d1b-9cf3-49f1fb294853	2fc2d89c-126c-4a1f-987f-aa357fc63c67	g.chr13:98828793C>A	ENST00000267291.6	-	1	726	c.698G>T	c.(697-699)gGt>gTt	p.G233V	FARP1_ENST00000376586.2_Intron|FARP1_ENST00000595437.1_Intron|FARP1_ENST00000376581.5_Intron|FARP1_ENST00000319562.6_Intron	NM_178861.4	NP_849192.1	Q8IZP6	R113B_HUMAN	ring finger protein 113B	233							nucleic acid binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	18	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.13)			ACAGTAGCGACCCTCTTCAAG	0.527													25	54					3.08376e-08	3.39843e-08	1	1	0	A	98828793	C	A	98828793	3	1	179	1	0	0	0	0	1	0	0	0	13480	507	18	5	278	5	RNF113B	13	98828793	Missense_Mutation	SNP	C	TCGA-E1-A7Z2-01A-21D-A34J-08		98828793	16341085	20	24101											
ZSCAN10	84891	broad.mit.edu	37	16	3139727	3139727	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7Z2-01A-21D-A34J-08	TCGA-E1-A7Z2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53d89c8c-9732-4d1b-9cf3-49f1fb294853	2fc2d89c-126c-4a1f-987f-aa357fc63c67	g.chr16:3139727G>A	ENST00000252463.2	-	5	1630	c.1543C>T	c.(1543-1545)Cgg>Tgg	p.R515W	ZSCAN10_ENST00000575108.1_Missense_Mutation_p.R176W|ZSCAN10_ENST00000538082.2_Missense_Mutation_p.R433W	NM_032805.1	NP_116194.1	Q96SZ4	ZSC10_HUMAN	zinc finger and SCAN domain containing 10	515					negative regulation of transcription, DNA-dependent|viral reproduction	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(3)|endometrium(3)|kidney(1)|lung(8)|ovary(2)|prostate(1)|skin(4)|urinary_tract(1)	24						GTGTGCACCCGTTGGTGGCTG	0.721													6	15					0	0	1	0	0	A	3139727	G	A	3139727	3	1	179	1	0	0	0	0	1	0	0	0	18269	1144	40	1	638	1	ZSCAN10	16	3139727	Missense_Mutation	SNP	G	TCGA-E1-A7Z2-01A-21D-A34J-08		3139727	87215026	21	24102											
SHCBP1	79801	broad.mit.edu	37	16	46655218	46655218	+	Silent	SNP	C	C	T			TCGA-E1-A7Z2-01A-21D-A34J-08	TCGA-E1-A7Z2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53d89c8c-9732-4d1b-9cf3-49f1fb294853	2fc2d89c-126c-4a1f-987f-aa357fc63c67	g.chr16:46655218C>T	ENST00000303383.3	-	1	320	c.54G>A	c.(52-54)ccG>ccA	p.P18P	SHCBP1_ENST00000564272.1_5'UTR	NM_024745.4	NP_079021	Q8NEM2	SHCBP_HUMAN	SHC SH2-domain binding protein 1	18										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_cancers(37;0.00404)|all_epithelial(9;0.00527)|all_lung(18;0.0413)|Lung NSC(13;0.213)				CCATGCGCTCCGGCGCCATGG	0.697													24	39					0	0	1	0	0	T	46655218	C	T	46655218	2	4	179	1	0	0	0	0	0	0	0	1	14329	639	23	1		1	SHCBP1	16	46655218	Silent	SNP	C	TCGA-E1-A7Z2-01A-21D-A34J-08	43515491	46655218	43699535	22	24103											
KSR1	8844	broad.mit.edu	37	17	25783779	25783779	+	Missense_Mutation	SNP	C	C	A	rs143611966	by1000genomes	TCGA-E1-A7Z2-01A-21D-A34J-08	TCGA-E1-A7Z2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53d89c8c-9732-4d1b-9cf3-49f1fb294853	2fc2d89c-126c-4a1f-987f-aa357fc63c67	g.chr17:25783779C>A	ENST00000319524.6	+	1	110	c.110C>A	c.(109-111)gCg>gAg	p.A37E	KSR1_ENST00000509603.2_Missense_Mutation_p.A37E			Q8IVT5	KSR1_HUMAN	kinase suppressor of ras 1	35					Ras protein signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.A37E(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	28	Lung NSC(42;0.00836)		BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		GCCAGCCGGGCGCTGCAGCAG	0.741													4	32					0.00024832	0.000257871	1	1	0	A	25783779	C	A	25783779	3	1	179	1	0	0	0	0	1	0	0	0	8620	783	27	5		5	KSR1	17	25783779	Missense_Mutation	SNP	C	TCGA-E1-A7Z2-01A-21D-A34J-08		25783779	55411431	23	24104											
SLC6A4	6532	broad.mit.edu	37	17	28537613	28537613	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7Z2-01A-21D-A34J-08	TCGA-E1-A7Z2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53d89c8c-9732-4d1b-9cf3-49f1fb294853	2fc2d89c-126c-4a1f-987f-aa357fc63c67	g.chr17:28537613C>T	ENST00000401766.2	-	10	1881	c.1369G>A	c.(1369-1371)Gtc>Atc	p.V457I	SLC6A4_ENST00000261707.3_Missense_Mutation_p.V457I			P31645	SC6A4_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 4	457					response to toxin|serotonin uptake|thalamus development	cytosol|endomembrane system|endosome membrane|membrane raft	actin filament binding|Rab GTPase binding|serotonin transmembrane transporter activity|serotonin:sodium symporter activity	p.V457I(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(4)	25					Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Doxepin(DB01142)|Duloxetine(DB00476)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Minaprine(DB00805)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phentermine(DB00191)|Protriptyline(DB00344)|Sertraline(DB01104)|Sibutramine(DB01105)|Tegaserod(DB01079)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Zimelidine(DB04832)	TTGGCCCAGACGTGTGGGAAC	0.597													25	62					0	0	1	0	0	T	28537613	C	T	28537613	3	4	179	1	0	0	0	0	1	0	0	0	14741	536	19	1	543	1	SLC6A4	17	28537613	Missense_Mutation	SNP	C	TCGA-E1-A7Z2-01A-21D-A34J-08	2753834	28537613	52657597	24	24105											
LHX1	3975	broad.mit.edu	37	17	35300251	35300251	+	Silent	SNP	G	G	A			TCGA-E1-A7Z2-01A-21D-A34J-08	TCGA-E1-A7Z2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53d89c8c-9732-4d1b-9cf3-49f1fb294853	2fc2d89c-126c-4a1f-987f-aa357fc63c67	g.chr17:35300251G>A	ENST00000254457.5	+	5	2455	c.1044G>A	c.(1042-1044)gcG>gcA	p.A348A	RP11-445F12.2_ENST00000607336.1_RNA	NM_005568.3	NP_005559.2	P48742	LHX1_HUMAN	LIM homeobox 1	348					cerebellar Purkinje cell differentiation|cerebellar Purkinje cell-granule cell precursor cell signaling involved in regulation of granule cell precursor cell proliferation|cervix development|comma-shaped body morphogenesis|dorsal/ventral pattern formation|ectoderm formation|embryonic pattern specification|embryonic retina morphogenesis in camera-type eye|embryonic viscerocranium morphogenesis|endoderm formation|forebrain regionalization|head development|motor axon guidance|negative regulation of transcription, DNA-dependent|nephric duct morphogenesis|nephron tubule epithelial cell differentiation|neuron migration|oviduct epithelium development|paramesonephric duct development|positive regulation of anterior head development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of embryonic development|positive regulation of gastrulation|positive regulation of transcription, DNA-dependent|post-embryonic development|primitive streak formation|renal vesicle morphogenesis|retina layer formation|S-shaped body morphogenesis|spinal cord association neuron differentiation|transcription from RNA polymerase II promoter|ureteric bud development|uterine epithelium development|vagina development	nucleus|protein complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	16		Breast(25;0.00607)				ACATCCTGGCGCACCCACCCG	0.746													9	9					0	0	1	0	0	A	35300251	G	A	35300251	2	1	179	1	0	0	0	0	0	0	0	1	8810	1074	38	1		1	LHX1	17	35300251	Silent	SNP	G	TCGA-E1-A7Z2-01A-21D-A34J-08	6762638	35300251	45894959	25	24106											
SLC25A39	51629	broad.mit.edu	37	17	42400907	42400907	+	Silent	SNP	G	G	A			TCGA-E1-A7Z2-01A-21D-A34J-08	TCGA-E1-A7Z2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53d89c8c-9732-4d1b-9cf3-49f1fb294853	2fc2d89c-126c-4a1f-987f-aa357fc63c67	g.chr17:42400907G>A	ENST00000225308.8	-	2	198	c.24C>T	c.(22-24)ggC>ggT	p.G8G	SLC25A39_ENST00000586016.1_Intron|SLC25A39_ENST00000537904.2_Silent_p.G8G|SLC25A39_ENST00000590194.1_Silent_p.G8G|SLC25A39_ENST00000377095.5_Silent_p.G8G	NM_016016.2	NP_057100.1	Q9BZJ4	S2539_HUMAN	solute carrier family 25, member 39	8					heme biosynthetic process|transport	integral to membrane|mitochondrial inner membrane				endometrium(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	7		Prostate(33;0.0233)		BRCA - Breast invasive adenocarcinoma(366;0.189)		GGGGGCTGATGCCCGCAGGGT	0.607													4	4					0	0	1	0	0	A	42400907	G	A	42400907	2	1	179	1	0	0	0	0	0	0	0	1	14558	1306	46	2		2	SLC25A39	17	42400907	Silent	SNP	G	TCGA-E1-A7Z2-01A-21D-A34J-08	7100656	42400907	38794303	26	24107											
TMEM105	284186	broad.mit.edu	37	17	79288241	79288241	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7Z2-01A-21D-A34J-08	TCGA-E1-A7Z2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53d89c8c-9732-4d1b-9cf3-49f1fb294853	2fc2d89c-126c-4a1f-987f-aa357fc63c67	g.chr17:79288241C>T	ENST00000332900.1	-	2	571	c.22G>A	c.(22-24)Gcg>Acg	p.A8T		NM_178520.3	NP_848615.1	Q8N8V8	TM105_HUMAN	transmembrane protein 105	8						integral to membrane				NS(1)|large_intestine(3)|lung(1)|ovary(2)	7	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.0892)			TTCAAGGACGCCCTCCTCACC	0.647													13	13					0	0	1	0	0	T	79288241	C	T	79288241	3	4	179	1	0	0	0	0	1	0	0	0	16079	739	26	2	375	2	TMEM105	17	79288241	Missense_Mutation	SNP	C	TCGA-E1-A7Z2-01A-21D-A34J-08	36887334	79288241	1906969	27	24108											
SLC25A10	1468	broad.mit.edu	37	17	79682008	79682008	+	Frame_Shift_Del	DEL	T	T	-			TCGA-E1-A7Z2-01A-21D-A34J-08	TCGA-E1-A7Z2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53d89c8c-9732-4d1b-9cf3-49f1fb294853	2fc2d89c-126c-4a1f-987f-aa357fc63c67	g.chr17:79682008delT	ENST00000331531.5	+	2	239	c.119delT	c.(118-120)gtgfs	p.V40fs	SLC25A10_ENST00000350690.5_Frame_Shift_Del_p.V40fs|SLC25A10_ENST00000541223.1_Frame_Shift_Del_p.V195fs|SLC25A10_ENST00000571730.1_Frame_Shift_Del_p.V195fs|SLC25A10_ENST00000545862.1_5'UTR	NM_001270888.1	NP_001257817.1	Q9UBX3	DIC_HUMAN	solute carrier family 25 (mitochondrial carrier; dicarboxylate transporter), member 10	40					gluconeogenesis|mitochondrial transport	integral to membrane|mitochondrial inner membrane|nucleus	protein binding			endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(2)	14	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0117)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)		Succinic acid(DB00139)	CAGCAGGAGGTGAAGCTGCGC	0.657													9	38	---	---	---	---						-	79682008	T	-	79682008	7	5	179	1	0	1	0	1	0	0	0	0	14527	1696	59	0	125	0	SLC25A10	17	79682008	Frame_Shift_Del	DEL	T	TCGA-E1-A7Z2-01A-21D-A34J-08	393767	79682008	1513202	28	24109											
REXO1	57455	broad.mit.edu	37	19	1827746	1827746	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7Z2-01A-21D-A34J-08	TCGA-E1-A7Z2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53d89c8c-9732-4d1b-9cf3-49f1fb294853	2fc2d89c-126c-4a1f-987f-aa357fc63c67	g.chr19:1827746C>T	ENST00000170168.4	-	2	1136	c.1042G>A	c.(1042-1044)Gac>Aac	p.D348N	REXO1_ENST00000587524.1_5'UTR	NM_020695.3	NP_065746.3	Q8N1G1	REXO1_HUMAN	REX1, RNA exonuclease 1 homolog (S. cerevisiae)	348						nucleus	exonuclease activity|nucleic acid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	16		Ovarian(11;1.78e-06)|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)		GGCTGGAGGTCCCCCACGTCG	0.687													6	11					0	0	1	0	0	T	1827746	C	T	1827746	3	4	179	1	0	0	0	0	1	0	0	0	13293	855	30	2	2683	2	REXO1	19	1827746	Missense_Mutation	SNP	C	TCGA-E1-A7Z2-01A-21D-A34J-08		1827746	57301237	29	24110											
RFX1	5989	broad.mit.edu	37	19	14094339	14094339	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7Z2-01A-21D-A34J-08	TCGA-E1-A7Z2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53d89c8c-9732-4d1b-9cf3-49f1fb294853	2fc2d89c-126c-4a1f-987f-aa357fc63c67	g.chr19:14094339C>T	ENST00000254325.4	-	3	622	c.388G>A	c.(388-390)Gtt>Att	p.V130I		NM_002918.4	NP_002909.4	P22670	RFX1_HUMAN	regulatory factor X, 1 (influences HLA class II expression)	130					immune response	nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(19;6.67e-23)			TGAGTAGGAACGCCGGTCTGG	0.706													5	14					0	0	1	0	0	T	14094339	C	T	14094339	3	4	179	1	0	0	0	0	1	0	0	0	13314	536	19	1	2627	1	RFX1	19	14094339	Missense_Mutation	SNP	C	TCGA-E1-A7Z2-01A-21D-A34J-08	12266593	14094339	45034644	30	24111											
TSHZ3	57616	broad.mit.edu	37	19	31768091	31768091	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7Z2-01A-21D-A34J-08	TCGA-E1-A7Z2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53d89c8c-9732-4d1b-9cf3-49f1fb294853	2fc2d89c-126c-4a1f-987f-aa357fc63c67	g.chr19:31768091C>T	ENST00000240587.4	-	2	2935	c.2608G>A	c.(2608-2610)Gag>Aag	p.E870K		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	870					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					TCAGACTTCTCGGAGATGCTG	0.572													42	77					0	0	1	0	0	T	31768091	C	T	31768091	3	4	179	1	0	0	0	0	1	0	0	0	16686	893	31	1	641	1	TSHZ3	19	31768091	Missense_Mutation	SNP	C	TCGA-E1-A7Z2-01A-21D-A34J-08	17673752	31768091	27360892	31	24112											
TSHZ3	57616	broad.mit.edu	37	19	31769601	31769601	+	Silent	SNP	G	G	A			TCGA-E1-A7Z2-01A-21D-A34J-08	TCGA-E1-A7Z2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53d89c8c-9732-4d1b-9cf3-49f1fb294853	2fc2d89c-126c-4a1f-987f-aa357fc63c67	g.chr19:31769601G>A	ENST00000240587.4	-	2	1425	c.1098C>T	c.(1096-1098)taC>taT	p.Y366Y		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	366					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.Y366_G367>*(1)|p.Y183_G184>*(1)		breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					TCTGGTGGCCGTACCGATTAT	0.562													75	150					0	0	1	0	0	A	31769601	G	A	31769601	2	1	179	1	0	0	0	0	0	0	0	1	16686	1140	40	1		1	TSHZ3	19	31769601	Silent	SNP	G	TCGA-E1-A7Z2-01A-21D-A34J-08	1510	31769601	27359382	32	24113											
NAPSA	9476	broad.mit.edu	37	19	50862030	50862030	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7Z2-01A-21D-A34J-08	TCGA-E1-A7Z2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53d89c8c-9732-4d1b-9cf3-49f1fb294853	2fc2d89c-126c-4a1f-987f-aa357fc63c67	g.chr19:50862030C>T	ENST00000253719.2	-	9	1251	c.1043G>A	c.(1042-1044)cGa>cAa	p.R348Q	NR1H2_ENST00000542413.1_Intron|NR1H2_ENST00000600978.1_Intron	NM_004851.1	NP_004842.1	O96009	NAPSA_HUMAN	napsin A aspartic peptidase	348					proteolysis	extracellular region	aspartic-type endopeptidase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(3)	12		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0183)		GACGCCATTTCGAGTAGTCTG	0.622													7	15					0	0	1	0	0	T	50862030	C	T	50862030	3	4	179	1	0	0	0	0	1	0	0	0	10214	884	31	1	223	1	NAPSA	19	50862030	Missense_Mutation	SNP	C	TCGA-E1-A7Z2-01A-21D-A34J-08	19092429	50862030	8266953	33	24114											
GDAP1L1	78997	broad.mit.edu	37	20	42885841	42885841	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7Z2-01A-21D-A34J-08	TCGA-E1-A7Z2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53d89c8c-9732-4d1b-9cf3-49f1fb294853	2fc2d89c-126c-4a1f-987f-aa357fc63c67	g.chr20:42885841G>A	ENST00000342560.5	+	2	317	c.229G>A	c.(229-231)Gtg>Atg	p.V77M	GDAP1L1_ENST00000537864.1_Intron|GDAP1L1_ENST00000372952.3_Missense_Mutation_p.V77M	NM_001256737.1|NM_024034.4	NP_001243666.1|NP_076939.3	Q96MZ0	GD1L1_HUMAN	ganglioside induced differentiation associated protein 1-like 1	77	GST N-terminal.									endometrium(1)|large_intestine(5)|lung(10)|pancreas(1)|prostate(1)	18		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			GGAGCGGGACGTGAGCCTGCC	0.667													17	17					0	0	1	0	0	A	42885841	G	A	42885841	3	1	179	1	0	0	0	0	1	0	0	0	6349	1145	40	1	235	1	GDAP1L1	20	42885841	Missense_Mutation	SNP	G	TCGA-E1-A7Z2-01A-21D-A34J-08		42885841	20139679	34	24115											
NCOA3	8202	broad.mit.edu	37	20	46262895	46262895	+	Silent	SNP	A	A	T			TCGA-E1-A7Z2-01A-21D-A34J-08	TCGA-E1-A7Z2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53d89c8c-9732-4d1b-9cf3-49f1fb294853	2fc2d89c-126c-4a1f-987f-aa357fc63c67	g.chr20:46262895A>T	ENST00000372004.3	+	10	1284	c.1068A>T	c.(1066-1068)gtA>gtT	p.V356V	NCOA3_ENST00000371998.3_Silent_p.V356V|NCOA3_ENST00000371997.3_Silent_p.V366V|NCOA3_ENST00000341724.6_Silent_p.V366V	NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2	NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1	Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	356					androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding			breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						GAAATCCTGTAACAAATGATC	0.403													43	166					0	0	1	0	0	T	46262895	A	T	46262895	2	4	179	1	0	0	0	0	0	0	0	1	10277	349	13	5		5	NCOA3	20	46262895	Silent	SNP	A	TCGA-E1-A7Z2-01A-21D-A34J-08	3377054	46262895	16762625	35	24116	119	2									
NCOA3	8202	broad.mit.edu	37	20	46262897	46262897	+	Missense_Mutation	SNP	C	C	G			TCGA-E1-A7Z2-01A-21D-A34J-08	TCGA-E1-A7Z2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53d89c8c-9732-4d1b-9cf3-49f1fb294853	2fc2d89c-126c-4a1f-987f-aa357fc63c67	g.chr20:46262897C>G	ENST00000372004.3	+	10	1286	c.1070C>G	c.(1069-1071)aCa>aGa	p.T357R	NCOA3_ENST00000371998.3_Missense_Mutation_p.T357R|NCOA3_ENST00000371997.3_Missense_Mutation_p.T367R|NCOA3_ENST00000341724.6_Missense_Mutation_p.T367R	NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2	NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1	Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	357					androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding			breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						AATCCTGTAACAAATGATCGA	0.403													40	165					0	0	1	0	0	G	46262897	C	G	46262897	3	3	179	1	0	0	0	0	1	0	0	0	10277	478	17	5	1130	5	NCOA3	20	46262897	Missense_Mutation	SNP	C	TCGA-E1-A7Z2-01A-21D-A34J-08	2	46262897	16762623	36	24117	119	2									
MPPED1	758	broad.mit.edu	37	22	43821099	43821099	+	Silent	SNP	G	G	A			TCGA-E1-A7Z2-01A-21D-A34J-08	TCGA-E1-A7Z2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53d89c8c-9732-4d1b-9cf3-49f1fb294853	2fc2d89c-126c-4a1f-987f-aa357fc63c67	g.chr22:43821099G>A	ENST00000417669.2	+	2	552	c.108G>A	c.(106-108)cgG>cgA	p.R36R	MPPED1_ENST00000439548.1_Intron|MPPED1_ENST00000538182.1_Silent_p.R69R|MPPED1_ENST00000414469.2_Intron|MPPED1_ENST00000542779.1_Silent_p.R36R|MPPED1_ENST00000443721.1_Silent_p.R36R			O15442	MPPD1_HUMAN	metallophosphoesterase domain containing 1								hydrolase activity			endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|skin(1)	13		all_neural(38;0.0244)|Ovarian(80;0.0694)				TGGCCGCTCGGCGGCACCAGC	0.662													22	18					0	0	1	0	0	A	43821099	G	A	43821099	2	1	179	1	0	0	0	0	0	0	0	1	9790	1190	42	2		2	MPPED1	22	43821099	Silent	SNP	G	TCGA-E1-A7Z2-01A-21D-A34J-08		43821099	7483467	37	24118											
ACRC	93953	broad.mit.edu	37	X	70828953	70828953	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7Z2-01A-21D-A34J-08	TCGA-E1-A7Z2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53d89c8c-9732-4d1b-9cf3-49f1fb294853	2fc2d89c-126c-4a1f-987f-aa357fc63c67	g.chrX:70828953G>A	ENST00000373695.1	+	9	2134	c.1597G>A	c.(1597-1599)Gtc>Atc	p.V533I	ACRC_ENST00000471950.1_3'UTR|ACRC_ENST00000373696.3_Missense_Mutation_p.V533I			Q96QF7	ACRC_HUMAN	acidic repeat containing	533						nucleus				autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1)	54	Renal(35;0.156)					TAACAGATCCGTCTGTGATAA	0.393													20	32					0	0	1	0	0	A	70828953	G	A	70828953	3	1	179	1	0	0	0	0	1	0	0	0	171	1145	40	1	1631	1	ACRC	23	70828953	Missense_Mutation	SNP	G	TCGA-E1-A7Z2-01A-21D-A34J-08		70828953	84441607	38	24119											
PLXNB3	5365	broad.mit.edu	37	X	153033031	153033031	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7Z2-01A-21D-A34J-08	TCGA-E1-A7Z2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53d89c8c-9732-4d1b-9cf3-49f1fb294853	2fc2d89c-126c-4a1f-987f-aa357fc63c67	g.chrX:153033031G>A	ENST00000538966.1	+	4	1089	c.818G>A	c.(817-819)cGc>cAc	p.R273H	PLXNB3_ENST00000538543.1_Intron|PLXNB3_ENST00000361971.5_Missense_Mutation_p.R250H|PLXNB3_ENST00000538776.1_Intron|PLXNB3_ENST00000538282.1_Intron	NM_001163257.1	NP_001156729.1	Q9ULL4	PLXB3_HUMAN	plexin B3	250	Sema.				axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity			central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					GTGTTccgccgccgcggggcc	0.706													8	13					0	0	1	0	0	A	153033031	G	A	153033031	3	1	179	1	0	0	0	0	1	0	0	0	12173	1087	38	1	873	1	PLXNB3	23	153033031	Missense_Mutation	SNP	G	TCGA-E1-A7Z2-01A-21D-A34J-08	82204078	153033031	2237529	39	24120											
AIM1L	55057	broad.mit.edu	37	1	26650676	26650676	+	Missense_Mutation	SNP	G	G	C			TCGA-E1-A7Z3-01A-11D-A34J-08	TCGA-E1-A7Z3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e93c7-09b0-4f5e-8e50-5485a1572fc1	cecdfd71-e1b1-4c90-a72d-c6770c44f2b5	g.chr1:26650676G>C	ENST00000527815.1	-	17	2131	c.2082C>G	c.(2080-2082)atC>atG	p.I694M	AIM1L_ENST00000308182.5_Missense_Mutation_p.I523M	NM_001039775.3	NP_001034864.2	Q8N1P7	AIM1L_HUMAN	absent in melanoma 1-like	523							sugar binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|pancreas(1)|skin(2)	12		all_cancers(24;4.67e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.51e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000792)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.00858)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.165)|LUSC - Lung squamous cell carcinoma(448;0.239)		CGTAGTACCAGATGCAGCTAC	0.612													6	47					0	0	1	0	0	C	26650676	G	C	26650676	3	2	180	1	0	0	0	0	1	0	0	0	428	932	33	4	293	4	AIM1L	1	26650676	Missense_Mutation	SNP	G	TCGA-E1-A7Z3-01A-11D-A34J-08		26650676	222599945	1	24121											
C1orf172	126695	broad.mit.edu	37	1	27278347	27278347	+	Silent	SNP	C	C	T			TCGA-E1-A7Z3-01A-11D-A34J-08	TCGA-E1-A7Z3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e93c7-09b0-4f5e-8e50-5485a1572fc1	cecdfd71-e1b1-4c90-a72d-c6770c44f2b5	g.chr1:27278347C>T	ENST00000320567.5	-	2	613	c.525G>A	c.(523-525)ccG>ccA	p.P175P		NM_152365.2	NP_689578.2	Q8NAX2	CA172_HUMAN	chromosome 1 open reading frame 172	175										NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.37e-51)|OV - Ovarian serous cystadenocarcinoma(117;2.22e-29)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)		AGGTGGCCCTCGGGTAGGGAT	0.647													14	42					0	0	1	0	0	T	27278347	C	T	27278347	2	4	180	1	0	0	0	0	0	0	0	1	2026	871	31	1		1	C1orf172	1	27278347	Silent	SNP	C	TCGA-E1-A7Z3-01A-11D-A34J-08	627671	27278347	221972274	2	24122											
KIAA0907	22889	broad.mit.edu	37	1	155895455	155895455	+	Silent	SNP	T	T	C			TCGA-E1-A7Z3-01A-11D-A34J-08	TCGA-E1-A7Z3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e93c7-09b0-4f5e-8e50-5485a1572fc1	cecdfd71-e1b1-4c90-a72d-c6770c44f2b5	g.chr1:155895455T>C	ENST00000368320.3	-	7	886	c.861A>G	c.(859-861)cgA>cgG	p.R287R	KIAA0907_ENST00000368321.3_Silent_p.R287R|KIAA0907_ENST00000368319.3_Silent_p.R287R|KIAA0907_ENST00000482337.1_5'UTR			Q7Z7F0	K0907_HUMAN	KIAA0907	287										breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)			CAAAAGCTTCTCGGCCAGATG	0.478													28	57					0	0	1	0	0	C	155895455	T	C	155895455	2	2	180	1	0	0	0	0	0	0	0	1	8241	1538	54	3		3	KIAA0907	1	155895455	Silent	SNP	T	TCGA-E1-A7Z3-01A-11D-A34J-08	128617108	155895455	93355166	3	24123											
F13B	2165	broad.mit.edu	37	1	197021808	197021808	+	Missense_Mutation	SNP	T	T	C			TCGA-E1-A7Z3-01A-11D-A34J-08	TCGA-E1-A7Z3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e93c7-09b0-4f5e-8e50-5485a1572fc1	cecdfd71-e1b1-4c90-a72d-c6770c44f2b5	g.chr1:197021808T>C	ENST00000367412.1	-	9	1554	c.1511A>G	c.(1510-1512)cAg>cGg	p.Q504R		NM_001994.2	NP_001985.2	P05160	F13B_HUMAN	coagulation factor XIII, B polypeptide	504	Sushi 8.				blood coagulation	extracellular region				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						TCTGTTGCACTGCACAGATAA	0.338													27	82					0	0	1	0	0	C	197021808	T	C	197021808	3	2	180	1	0	0	0	0	1	0	0	0	5369	1580	55	3	490	3	F13B	1	197021808	Missense_Mutation	SNP	T	TCGA-E1-A7Z3-01A-11D-A34J-08	41126353	197021808	52228813	4	24124											
APOB	338	broad.mit.edu	37	2	21228654	21228654	+	Missense_Mutation	SNP	T	T	C			TCGA-E1-A7Z3-01A-11D-A34J-08	TCGA-E1-A7Z3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e93c7-09b0-4f5e-8e50-5485a1572fc1	cecdfd71-e1b1-4c90-a72d-c6770c44f2b5	g.chr2:21228654T>C	ENST00000233242.1	-	26	11213	c.11086A>G	c.(11086-11088)Att>Gtt	p.I3696V		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	3696					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	CTCCTACCAATGCTGGTGGTT	0.423													5	114					0	0	1	0	0	C	21228654	T	C	21228654	3	2	180	1	0	0	0	0	1	0	0	0	782	1464	51	3	2621	3	APOB	2	21228654	Missense_Mutation	SNP	T	TCGA-E1-A7Z3-01A-11D-A34J-08		21228654	221970719	5	24125											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-E1-A7Z3-01A-11D-A34J-08	TCGA-E1-A7Z3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e93c7-09b0-4f5e-8e50-5485a1572fc1	cecdfd71-e1b1-4c90-a72d-c6770c44f2b5	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								23	82					0	0	1	0	0	T	209113112	C	T	209113112	3	4	180	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-E1-A7Z3-01A-11D-A34J-08	187884458	209113112	34086261	6	24126											
ROBO2	6092	broad.mit.edu	37	3	77542481	77542481	+	Missense_Mutation	SNP	C	C	G			TCGA-E1-A7Z3-01A-11D-A34J-08	TCGA-E1-A7Z3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e93c7-09b0-4f5e-8e50-5485a1572fc1	cecdfd71-e1b1-4c90-a72d-c6770c44f2b5	g.chr3:77542481C>G	ENST00000461745.1	+	5	1654	c.754C>G	c.(754-756)Cct>Gct	p.P252A	ROBO2_ENST00000332191.8_Missense_Mutation_p.P252A|ROBO2_ENST00000487694.3_Missense_Mutation_p.P268A	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	252	Ig-like C2-type 3.				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		CCAAGGAGATCCTCAACCAAC	0.413													24	52					0	0	1	0	0	G	77542481	C	G	77542481	3	3	180	1	0	0	0	0	1	0	0	0	13566	855	30	5	774	5	ROBO2	3	77542481	Missense_Mutation	SNP	C	TCGA-E1-A7Z3-01A-11D-A34J-08		77542481	120479949	7	24127											
ARL6	84100	broad.mit.edu	37	3	97499462	97499462	+	Missense_Mutation	SNP	G	G	C			TCGA-E1-A7Z3-01A-11D-A34J-08	TCGA-E1-A7Z3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e93c7-09b0-4f5e-8e50-5485a1572fc1	cecdfd71-e1b1-4c90-a72d-c6770c44f2b5	g.chr3:97499462G>C	ENST00000463745.1	+	4	666	c.189G>C	c.(187-189)ttG>ttC	p.L63F	ARL6_ENST00000394206.1_Missense_Mutation_p.L63F|ARL6_ENST00000496713.1_3'UTR|ARL6_ENST00000335979.2_Missense_Mutation_p.L63F	NM_001278293.1	NP_001265222.1	Q9H0F7	ARL6_HUMAN	ADP-ribosylation factor-like 6	63					cilium assembly|determination of left/right symmetry|melanosome transport|protein polymerization|protein targeting to membrane|small GTPase mediated signal transduction|visual perception|Wnt receptor signaling pathway	axonemal microtubule|cilium axoneme|cilium membrane|membrane coat|microtubule basal body	GTP binding|metal ion binding|phospholipid binding|protein binding			large_intestine(1)|lung(4)	5		Lung NSC(201;0.0193)|Prostate(884;0.174)		LUSC - Lung squamous cell carcinoma(29;0.0118)|Lung(72;0.0189)		TTTGTAGTTTGTCATTTACAG	0.289													16	52					0	0	1	0	0	C	97499462	G	C	97499462	3	2	180	1	0	0	0	0	1	0	0	0	940	1368	48	5	199	5	ARL6	3	97499462	Missense_Mutation	SNP	G	TCGA-E1-A7Z3-01A-11D-A34J-08	19956981	97499462	100522968	8	24128											
DNAJC13	23317	broad.mit.edu	37	3	132166297	132166299	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-E1-A7Z3-01A-11D-A34J-08	TCGA-E1-A7Z3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e93c7-09b0-4f5e-8e50-5485a1572fc1	cecdfd71-e1b1-4c90-a72d-c6770c44f2b5	g.chr3:132166297_132166299delCTT	ENST00000260818.6	+	4	525_527	c.277_279delCTT	c.(277-279)cttdel	p.L94del	DNAJC13_ENST00000486798.1_3'UTR	NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	94							heat shock protein binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						CAGAACAGAACTTCTTACAGAAG	0.32													12	35	---	---	---	---						-	132166299	CTT	-	132166297	7	5	180	1	0	1	0	1	0	0	0	0	4659	565	20	0	287	0	DNAJC13	3	132166297	In_Frame_Del	DEL	CTT	TCGA-E1-A7Z3-01A-11D-A34J-08	34666835	132166297	65856133	9	24129											
SCD5	79966	broad.mit.edu	37	4	83601969	83601971	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-E1-A7Z3-01A-11D-A34J-08	TCGA-E1-A7Z3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e93c7-09b0-4f5e-8e50-5485a1572fc1	cecdfd71-e1b1-4c90-a72d-c6770c44f2b5	g.chr4:83601969_83601971delAGA	ENST00000319540.4	-	3	777_779	c.458_460delTCT	c.(457-462)ttctcc>tcc	p.F153del	SCD5_ENST00000273908.4_In_Frame_Del_p.F153del	NM_001037582.2	NP_001032671.2	Q86SK9	SCD5_HUMAN	stearoyl-CoA desaturase 5	153					fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	iron ion binding|stearoyl-CoA 9-desaturase activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)	13		Colorectal(4;0.0323)|Hepatocellular(203;0.115)				CCAATATGGGAGAAGAAGAAGCC	0.552													30	93	---	---	---	---						-	83601971	AGA	-	83601969	7	5	180	1	0	1	0	1	0	0	0	0	13940	304	11	0	750	0	SCD5	4	83601969	In_Frame_Del	DEL	AGA	TCGA-E1-A7Z3-01A-11D-A34J-08		83601969	107552307	10	24130											
CDC5L	988	broad.mit.edu	37	6	44394423	44394423	+	Missense_Mutation	SNP	A	A	C			TCGA-E1-A7Z3-01A-11D-A34J-08	TCGA-E1-A7Z3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e93c7-09b0-4f5e-8e50-5485a1572fc1	cecdfd71-e1b1-4c90-a72d-c6770c44f2b5	g.chr6:44394423A>C	ENST00000371477.3	+	13	2154	c.1855A>C	c.(1855-1857)Aat>Cat	p.N619H		NM_001253.3	NP_001244.1	Q99459	CDC5L_HUMAN	cell division cycle 5-like	619	Interaction with DAPK3 (By similarity).				cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	catalytic step 2 spliceosome|cytoplasm|nuclear speck|nucleolus	DNA binding|RNA binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(4)	29	all_lung(25;0.00433)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			TCTGGAACATAATCCTTATGA	0.363													16	70					0	0	1	0	0	C	44394423	A	C	44394423	3	2	180	1	0	0	0	0	1	0	0	0	3104	362	13	5	1905	5	CDC5L	6	44394423	Missense_Mutation	SNP	A	TCGA-E1-A7Z3-01A-11D-A34J-08		44394423	126720644	11	24131											
SLC22A16	85413	broad.mit.edu	37	6	110778052	110778052	+	Silent	SNP	G	G	A			TCGA-E1-A7Z3-01A-11D-A34J-08	TCGA-E1-A7Z3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e93c7-09b0-4f5e-8e50-5485a1572fc1	cecdfd71-e1b1-4c90-a72d-c6770c44f2b5	g.chr6:110778052G>A	ENST00000368919.3	-	2	288	c.222C>T	c.(220-222)acC>acT	p.T74T	SLC22A16_ENST00000439654.1_Silent_p.T74T|SLC22A16_ENST00000330550.4_Intron|SLC22A16_ENST00000456137.2_Silent_p.T74T|SLC22A16_ENST00000461487.1_5'UTR	NM_033125.3	NP_149116.2	Q86VW1	S22AG_HUMAN	solute carrier family 22 (organic cation/carnitine transporter), member 16	74					acid secretion|cell differentiation|multicellular organismal development|single fertilization|sperm motility|spermatogenesis	integral to membrane	carnitine transporter activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34		all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101)		OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115)		ACAGGGCCCCGGTGTCCTCCA	0.507													4	92					0	0	1	0	0	A	110778052	G	A	110778052	2	1	180	1	0	0	0	0	0	0	0	1	14502	1103	39	1		1	SLC22A16	6	110778052	Silent	SNP	G	TCGA-E1-A7Z3-01A-11D-A34J-08	66383629	110778052	60337015	12	24132											
LTV1	84946	broad.mit.edu	37	6	144184292	144184292	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7Z3-01A-11D-A34J-08	TCGA-E1-A7Z3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e93c7-09b0-4f5e-8e50-5485a1572fc1	cecdfd71-e1b1-4c90-a72d-c6770c44f2b5	g.chr6:144184292G>A	ENST00000367576.5	+	10	1320	c.1186G>A	c.(1186-1188)Gca>Aca	p.A396T		NM_032860.3	NP_116249.2	Q96GA3	LTV1_HUMAN	LTV1 homolog (S. cerevisiae)	396										breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)	13				OV - Ovarian serous cystadenocarcinoma(155;2.72e-06)|GBM - Glioblastoma multiforme(68;0.0372)		AGGACTCACAGCAAAGCAAAC	0.348													4	134					0	0	1	0	0	A	144184292	G	A	144184292	3	1	180	1	0	0	0	0	1	0	0	0	9126	971	34	2	1224	2	LTV1	6	144184292	Missense_Mutation	SNP	G	TCGA-E1-A7Z3-01A-11D-A34J-08	33406240	144184292	26930775	13	24133											
ABCA13	154664	broad.mit.edu	37	7	48319515	48319515	+	Silent	SNP	A	A	G			TCGA-E1-A7Z3-01A-11D-A34J-08	TCGA-E1-A7Z3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e93c7-09b0-4f5e-8e50-5485a1572fc1	cecdfd71-e1b1-4c90-a72d-c6770c44f2b5	g.chr7:48319515A>G	ENST00000435803.1	+	18	8748	c.8724A>G	c.(8722-8724)caA>caG	p.Q2908Q		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	2908					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TAACAGATCAAAGGTAATTAA	0.343													3	26					0	0	1	0	0	G	48319515	A	G	48319515	2	3	180	1	0	0	0	0	0	0	0	1	31	11	1	3		3	ABCA13	7	48319515	Silent	SNP	A	TCGA-E1-A7Z3-01A-11D-A34J-08		48319515	110819148	14	24134											
DNAJC2	27000	broad.mit.edu	37	7	102957362	102957362	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7Z3-01A-11D-A34J-08	TCGA-E1-A7Z3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e93c7-09b0-4f5e-8e50-5485a1572fc1	cecdfd71-e1b1-4c90-a72d-c6770c44f2b5	g.chr7:102957362C>T	ENST00000379263.3	-	13	1592	c.1342G>A	c.(1342-1344)Gga>Aga	p.G448R	PMPCB_ENST00000420236.2_Intron|DNAJC2_ENST00000249270.7_Missense_Mutation_p.G395R	NM_014377.1	NP_055192.1	Q99543	DNJC2_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 2	448					'de novo' cotranslational protein folding|chromatin modification|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nuclear membrane	chromatin binding|DNA binding|histone binding|Hsp70 protein binding|ubiquitin binding			endometrium(1)|kidney(9)|large_intestine(6)|lung(4)|ovary(1)	21						CTTCCATTTCCACCTCCACCA	0.378													23	126					0	0	1	0	0	T	102957362	C	T	102957362	3	4	180	1	0	0	0	0	1	0	0	0	4666	603	21	2	543	2	DNAJC2	7	102957362	Missense_Mutation	SNP	C	TCGA-E1-A7Z3-01A-11D-A34J-08	54637847	102957362	56181301	15	24135											
DLD	1738	broad.mit.edu	37	7	107559676	107559676	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7Z3-01A-11D-A34J-08	TCGA-E1-A7Z3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e93c7-09b0-4f5e-8e50-5485a1572fc1	cecdfd71-e1b1-4c90-a72d-c6770c44f2b5	g.chr7:107559676C>T	ENST00000205402.5	+	14	1783	c.1502C>T	c.(1501-1503)gCg>gTg	p.A501V	DLD_ENST00000440410.1_Missense_Mutation_p.A478V|DLD_ENST00000437604.2_Missense_Mutation_p.A453V|DLD_ENST00000537148.1_Missense_Mutation_p.A402V	NM_000108.3	NP_000099.2	P09622	DLDH_HUMAN	dihydrolipoamide dehydrogenase	501					branched chain family amino acid catabolic process|cell redox homeostasis|lysine catabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate|tricarboxylic acid cycle	mitochondrial matrix	dihydrolipoyl dehydrogenase activity			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(1)|lung(10)|prostate(1)	20					NADH(DB00157)	AATCTTGCTGCGTCATTTGGC	0.323													5	333					0	0	1	0	0	T	107559676	C	T	107559676	3	4	180	1	0	0	0	0	1	0	0	0	4579	768	27	1	1556	1	DLD	7	107559676	Missense_Mutation	SNP	C	TCGA-E1-A7Z3-01A-11D-A34J-08	4602314	107559676	51578987	16	24136											
VPS13A	23230	broad.mit.edu	37	9	79986031	79986031	+	Missense_Mutation	SNP	G	G	T			TCGA-E1-A7Z3-01A-11D-A34J-08	TCGA-E1-A7Z3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e93c7-09b0-4f5e-8e50-5485a1572fc1	cecdfd71-e1b1-4c90-a72d-c6770c44f2b5	g.chr9:79986031G>T	ENST00000360280.3	+	67	9303	c.9043G>T	c.(9043-9045)Gac>Tac	p.D3015Y	VPS13A_ENST00000376634.4_Missense_Mutation_p.D3015Y|VPS13A_ENST00000357409.5_Missense_Mutation_p.D3015Y|VPS13A_ENST00000376636.3_Missense_Mutation_p.D2976Y	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	3015					Golgi to endosome transport|protein transport	intracellular	protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						AGGCATCATAGACATGGCTAG	0.418													5	65					1.23904e-05	1.29411e-05	1	1	0	T	79986031	G	T	79986031	3	4	180	1	0	0	0	0	1	0	0	0	17249	942	33	4	9309	4	VPS13A	9	79986031	Missense_Mutation	SNP	G	TCGA-E1-A7Z3-01A-11D-A34J-08		79986031	61227400	17	24137											
KIAA1462	57608	broad.mit.edu	37	10	30317528	30317528	+	Missense_Mutation	SNP	T	T	C			TCGA-E1-A7Z3-01A-11D-A34J-08	TCGA-E1-A7Z3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e93c7-09b0-4f5e-8e50-5485a1572fc1	cecdfd71-e1b1-4c90-a72d-c6770c44f2b5	g.chr10:30317528T>C	ENST00000375377.1	-	3	1650	c.1549A>G	c.(1549-1551)Aga>Gga	p.R517G		NM_020848.2	NP_065899.1	Q9P266	K1462_HUMAN	KIAA1462	517										breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						CAGCGGTCTCTCTGGTTGGGG	0.652													13	135					0	0	1	0	0	C	30317528	T	C	30317528	3	2	180	1	0	0	0	0	1	0	0	0	8276	1559	54	3	2538	3	KIAA1462	10	30317528	Missense_Mutation	SNP	T	TCGA-E1-A7Z3-01A-11D-A34J-08		30317528	105217219	18	24138											
ATM	472	broad.mit.edu	37	11	108119696	108119696	+	Missense_Mutation	SNP	C	C	G			TCGA-E1-A7Z3-01A-11D-A34J-08	TCGA-E1-A7Z3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e93c7-09b0-4f5e-8e50-5485a1572fc1	cecdfd71-e1b1-4c90-a72d-c6770c44f2b5	g.chr11:108119696C>G	ENST00000278616.4	+	9	1487	c.1102C>G	c.(1102-1104)Caa>Gaa	p.Q368E	ATM_ENST00000452508.2_Missense_Mutation_p.Q368E	NM_000051.3	NP_000042	Q13315	ATM_HUMAN	ataxia telangiectasia mutated	368					cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		GGAGATTTCTCAATCTTACAC	0.328			"D, Mis, N, F, S"		T-PLL	"leukemia, lymphoma, medulloblastoma, glioma"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			3	54					0	0	1	0	0	G	108119696	C	G	108119696	3	3	180	1	0	0	0	0	1	0	0	0	1108	827	29	5	1132	5	ATM	11	108119696	Missense_Mutation	SNP	C	TCGA-E1-A7Z3-01A-11D-A34J-08		108119696	26886820	19	24139											
MYO1A	4640	broad.mit.edu	37	12	57442017	57442017	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7Z3-01A-11D-A34J-08	TCGA-E1-A7Z3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e93c7-09b0-4f5e-8e50-5485a1572fc1	cecdfd71-e1b1-4c90-a72d-c6770c44f2b5	g.chr12:57442017G>A	ENST00000442789.2	-	3	378	c.91C>T	c.(91-93)Cgc>Tgc	p.R31C	MYO1A_ENST00000300119.3_Missense_Mutation_p.R31C	NM_001256041.1	NP_001242970.1	Q9UBC5	MYO1A_HUMAN	myosin IA	31	Myosin head-like.				sensory perception of sound|vesicle localization	brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						TTTTCATAGCGAAGCTGAAGA	0.542													15	26					0	0	1	0	0	A	57442017	G	A	57442017	3	1	180	1	0	0	0	0	1	0	0	0	10116	1058	37	1	3148	1	MYO1A	12	57442017	Missense_Mutation	SNP	G	TCGA-E1-A7Z3-01A-11D-A34J-08		57442017	76409878	20	24140											
GPR133	283383	broad.mit.edu	37	12	131620642	131620642	+	Silent	SNP	C	C	T			TCGA-E1-A7Z3-01A-11D-A34J-08	TCGA-E1-A7Z3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e93c7-09b0-4f5e-8e50-5485a1572fc1	cecdfd71-e1b1-4c90-a72d-c6770c44f2b5	g.chr12:131620642C>T	ENST00000261654.5	+	22	2887	c.2328C>T	c.(2326-2328)ggC>ggT	p.G776G	GPR133_ENST00000543617.1_Silent_p.G295G|GPR133_ENST00000540207.1_3'UTR|GPR133_ENST00000535015.1_Silent_p.G808G|GPR133_ENST00000376682.4_Silent_p.G462G	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	776					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		GGGTCTTTGGCGTGCTTGCTG	0.617													4	41					0	0	1	0	0	T	131620642	C	T	131620642	2	4	180	1	0	0	0	0	0	0	0	1	6683	755	27	1		1	GPR133	12	131620642	Silent	SNP	C	TCGA-E1-A7Z3-01A-11D-A34J-08	74178625	131620642	2231253	21	24141											
UGGT2	55757	broad.mit.edu	37	13	96546858	96546858	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7Z3-01A-11D-A34J-08	TCGA-E1-A7Z3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e93c7-09b0-4f5e-8e50-5485a1572fc1	cecdfd71-e1b1-4c90-a72d-c6770c44f2b5	g.chr13:96546858C>T	ENST00000376747.3	-	24	2883	c.2813G>A	c.(2812-2814)cGt>cAt	p.R938H		NM_020121.3	NP_064506.3	Q9NYU1	UGGG2_HUMAN	UDP-glucose glycoprotein glucosyltransferase 2	938					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2)	60						TCGAGATGCACGCTTAGGCAC	0.358													4	147					0	0	1	0	0	T	96546858	C	T	96546858	3	4	180	1	0	0	0	0	1	0	0	0	17002	536	19	1	1801	1	UGGT2	13	96546858	Missense_Mutation	SNP	C	TCGA-E1-A7Z3-01A-11D-A34J-08		96546858	18623020	22	24142											
TRIP11	9321	broad.mit.edu	37	14	92466345	92466345	+	Silent	SNP	T	T	C			TCGA-E1-A7Z3-01A-11D-A34J-08	TCGA-E1-A7Z3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e93c7-09b0-4f5e-8e50-5485a1572fc1	cecdfd71-e1b1-4c90-a72d-c6770c44f2b5	g.chr14:92466345T>C	ENST00000267622.4	-	12	5038	c.4665A>G	c.(4663-4665)caA>caG	p.Q1555Q		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	1555					transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		CCATTTGTTTTTGTTTCAGGG	0.338			T	PDGFRB	AML								7	81					0	0	1	0	0	C	92466345	T	C	92466345	2	2	180	1	0	0	0	0	0	0	0	1	16616	1838	64	3		3	TRIP11	14	92466345	Silent	SNP	T	TCGA-E1-A7Z3-01A-11D-A34J-08		92466345	14883195	23	24143											
SERPINA5	5104	broad.mit.edu	37	14	95053930	95053930	+	Silent	SNP	C	C	T			TCGA-E1-A7Z3-01A-11D-A34J-08	TCGA-E1-A7Z3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e93c7-09b0-4f5e-8e50-5485a1572fc1	cecdfd71-e1b1-4c90-a72d-c6770c44f2b5	g.chr14:95053930C>T	ENST00000329597.7	+	3	441	c.231C>T	c.(229-231)gcC>gcT	p.A77A	SERPINA5_ENST00000553780.1_Silent_p.A77A|SERPINA5_ENST00000554276.1_Silent_p.A77A|SERPINA5_ENST00000554866.1_Silent_p.A77A	NM_000624.5	NP_000615.3	P05154	IPSP_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5	77					fusion of sperm to egg plasma membrane|regulation of proteolysis|spermatogenesis	extracellular region|membrane|protein complex	acrosin binding|heparin binding|protease binding|serine-type endopeptidase inhibitor activity			endometrium(3)|large_intestine(5)|lung(18)|ovary(2)|skin(5)|upper_aerodigestive_tract(3)	36				COAD - Colon adenocarcinoma(157;0.21)	Drotrecogin alfa(DB00055)|Urokinase(DB00013)	TGAGCCTGGCCATGCTCTCCC	0.597													3	25					0	0	1	0	0	T	95053930	C	T	95053930	2	4	180	1	0	0	0	0	0	0	0	1	14146	581	21	2		2	SERPINA5	14	95053930	Silent	SNP	C	TCGA-E1-A7Z3-01A-11D-A34J-08	2587585	95053930	12295610	24	24144											
HERC2	8924	broad.mit.edu	37	15	28413709	28413709	+	Silent	SNP	C	C	A			TCGA-E1-A7Z3-01A-11D-A34J-08	TCGA-E1-A7Z3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e93c7-09b0-4f5e-8e50-5485a1572fc1	cecdfd71-e1b1-4c90-a72d-c6770c44f2b5	g.chr15:28413709C>A	ENST00000261609.7	-	67	10365	c.10257G>T	c.(10255-10257)ccG>ccT	p.P3419P		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	3419					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		TCATGGCGGCCGGCATCAGGG	0.632													3	49					0.115264	0.115264	1	1	0	A	28413709	C	A	28413709	2	1	180	1	0	0	0	0	0	0	0	1	7099	639	23	5		5	HERC2	15	28413709	Silent	SNP	C	TCGA-E1-A7Z3-01A-11D-A34J-08		28413709	74117683	25	24145											
TUBGCP4	27229	broad.mit.edu	37	15	43694049	43694052	+	Splice_Site	DEL	GTAA	GTAA	-			TCGA-E1-A7Z3-01A-11D-A34J-08	TCGA-E1-A7Z3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e93c7-09b0-4f5e-8e50-5485a1572fc1	cecdfd71-e1b1-4c90-a72d-c6770c44f2b5	g.chr15:43694049_43694052delGTAA	ENST00000564079.1	+	15	1971		c.e15+1		TUBGCP4_ENST00000399460.3_Splice_Site|TUBGCP4_ENST00000260383.7_Splice_Site	NM_014444.2	NP_055259.2	Q9UGJ1	GCP4_HUMAN	tubulin, gamma complex associated protein 4						G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	structural constituent of cytoskeleton			breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(4)|prostate(2)|upper_aerodigestive_tract(2)	21		all_cancers(109;1.27e-10)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.72e-06)|all_lung(180;1.59e-05)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;3.53e-07)		ATTGAAACCTGTAAGTAAGGCTCA	0.422													11	47	---	---	---	---						-	43694052	GTAA	-	43694049	8	5	180	1	0	1	0	1	0	0	1	0	16830	1391	48	0	1790	0	TUBGCP4	15	43694049	Splice_Site	DEL	GTAA	TCGA-E1-A7Z3-01A-11D-A34J-08	15280340	43694049	58837343	26	24146											
MYO1E	4643	broad.mit.edu	37	15	59453404	59453404	+	Missense_Mutation	SNP	T	T	C			TCGA-E1-A7Z3-01A-11D-A34J-08	TCGA-E1-A7Z3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e93c7-09b0-4f5e-8e50-5485a1572fc1	cecdfd71-e1b1-4c90-a72d-c6770c44f2b5	g.chr15:59453404T>C	ENST00000288235.4	-	24	3052	c.2653A>G	c.(2653-2655)Aac>Gac	p.N885D		NM_004998.3	NP_004989.2	Q12965	MYO1E_HUMAN	myosin IE	885					actin filament-based movement	myosin complex	actin binding|ATP binding|ATPase activity, coupled|calmodulin binding|microfilament motor activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(6)|lung(10)|pancreas(2)|prostate(1)|urinary_tract(1)	33				all cancers(107;0.207)		GGGCCCCAGTTTTCCTTTTTC	0.567											OREG0023156	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	40					0	0	1	0	0	C	59453404	T	C	59453404	3	2	180	1	0	0	0	0	1	0	0	0	10120	1841	64	3	693	3	MYO1E	15	59453404	Missense_Mutation	SNP	T	TCGA-E1-A7Z3-01A-11D-A34J-08	15759355	59453404	43077988	27	24147											
TP53	7157	broad.mit.edu	37	17	7578275	7578277	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-E1-A7Z3-01A-11D-A34J-08	TCGA-E1-A7Z3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e93c7-09b0-4f5e-8e50-5485a1572fc1	cecdfd71-e1b1-4c90-a72d-c6770c44f2b5	g.chr17:7578275_7578277delGAG	ENST00000420246.2	-	6	704_706	c.572_574delCTC	c.(571-576)cctcag>cag	p.P191del	TP53_ENST00000413465.2_In_Frame_Del_p.P191del|TP53_ENST00000574684.1_Intron|TP53_ENST00000359597.4_In_Frame_Del_p.P191del|TP53_ENST00000269305.4_In_Frame_Del_p.P191del|TP53_ENST00000455263.2_In_Frame_Del_p.P191del|TP53_ENST00000445888.2_In_Frame_Del_p.P191del	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	191	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		P -> H (in sporadic cancers; somatic mutation).|P -> L (in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> S (in sporadic cancers; somatic mutation).|P -> T (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.Q192*(83)|p.0?(8)|p.P191del(7)|p.Q99*(6)|p.?(6)|p.Q60*(6)|p.P191delP(4)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.P191fs*53(2)|p.P191L(2)|p.P191R(2)|p.G187fs*16(2)|p.P59delP(2)|p.P98delP(2)|p.P191fs*56(1)|p.P191fs*6(1)|p.A189_Q192>E(1)|p.P59_E66>Q(1)|p.P191fs*15(1)|p.P191H(1)|p.P191P(1)|p.P191_Q192delPQ(1)|p.D186_P191delDGLAPP(1)|p.Q192K(1)|p.P98_E105>Q(1)|p.A189fs*53(1)|p.Q192fs*56(1)|p.Q192del(1)|p.Q192fs*16(1)|p.L188_P191del(1)|p.Q192fs*30(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)		ATAAGATGCTGAGGAGGGGCCAG	0.557		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)			19	33	---	---	---	---						-	7578277	GAG	-	7578275	7	5	180	1	0	1	0	1	0	0	0	0	16442	1299	45	0	720	0	TP53	17	7578275	In_Frame_Del	DEL	GAG	TCGA-E1-A7Z3-01A-11D-A34J-08		7578275	73616935	28	24148											
ETHE1	23474	broad.mit.edu	37	19	44030437	44030437	+	Silent	SNP	G	G	A			TCGA-E1-A7Z3-01A-11D-A34J-08	TCGA-E1-A7Z3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e93c7-09b0-4f5e-8e50-5485a1572fc1	cecdfd71-e1b1-4c90-a72d-c6770c44f2b5	g.chr19:44030437G>A	ENST00000600651.1	-	3	314	c.291C>T	c.(289-291)ggC>ggT	p.G97G	ZNF575_ENST00000458714.2_Intron|ETHE1_ENST00000292147.2_Silent_p.G97G			O95571	ETHE1_HUMAN	ethylmalonic encephalopathy 1	97						mitochondrial matrix|nucleus	hydrolase activity|metal ion binding			central_nervous_system(1)|liver(1)|lung(2)|upper_aerodigestive_tract(1)	5		Prostate(69;0.0153)				CAGACTGGCAGCCAGGGAGGA	0.622													5	47					0	0	1	0	0	A	44030437	G	A	44030437	2	1	180	1	0	0	0	0	0	0	0	1	5300	958	34	2		2	ETHE1	19	44030437	Silent	SNP	G	TCGA-E1-A7Z3-01A-11D-A34J-08		44030437	15098546	29	24149											
ZNF470	388566	broad.mit.edu	37	19	57088811	57088811	+	Missense_Mutation	SNP	A	A	C			TCGA-E1-A7Z3-01A-11D-A34J-08	TCGA-E1-A7Z3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e93c7-09b0-4f5e-8e50-5485a1572fc1	cecdfd71-e1b1-4c90-a72d-c6770c44f2b5	g.chr19:57088811A>C	ENST00000330619.8	+	6	1700	c.1014A>C	c.(1012-1014)aaA>aaC	p.K338N	ZNF470_ENST00000601902.1_Intron|ZNF470_ENST00000391709.3_Missense_Mutation_p.K338N	NM_001001668.3	NP_001001668.3	Q6ECI4	ZN470_HUMAN	zinc finger protein 470	338					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(7)|large_intestine(12)|lung(11)|ovary(1)|pancreas(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	41		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0294)		CTGGAGAGAAACCCTATGAAT	0.428													16	29					0	0	1	0	0	C	57088811	A	C	57088811	3	2	180	1	0	0	0	0	1	0	0	0	17986	40	2	5	1028	5	ZNF470	19	57088811	Missense_Mutation	SNP	A	TCGA-E1-A7Z3-01A-11D-A34J-08	13058374	57088811	2040172	30	24150											
RRBP1	6238	broad.mit.edu	37	20	17639269	17639271	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-E1-A7Z3-01A-11D-A34J-08	TCGA-E1-A7Z3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e93c7-09b0-4f5e-8e50-5485a1572fc1	cecdfd71-e1b1-4c90-a72d-c6770c44f2b5	g.chr20:17639269_17639271delCTT	ENST00000377813.1	-	3	2185_2187	c.1882_1884delAAG	c.(1882-1884)aagdel	p.K628del	RRBP1_ENST00000246043.4_In_Frame_Del_p.K628del|RRBP1_ENST00000377807.2_In_Frame_Del_p.K198del|RRBP1_ENST00000360807.4_In_Frame_Del_p.K198del|RRBP1_ENST00000455029.2_Intron			Q9P2E9	RRBP1_HUMAN	ribosome binding protein 1	628					protein transport|translation|transmembrane transport	integral to endoplasmic reticulum membrane|ribosome	receptor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(6)	28						TTGAACCAGACTTCTTCTTGGCA	0.453													7	121	---	---	---	---						-	17639271	CTT	-	17639269	7	5	180	1	0	1	0	1	0	0	0	0	13730	564	20	0	2431	0	RRBP1	20	17639269	In_Frame_Del	DEL	CTT	TCGA-E1-A7Z3-01A-11D-A34J-08		17639269	45386251	31	24151											
PI4KA	5297	broad.mit.edu	37	22	21062373	21062373	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7Z3-01A-11D-A34J-08	TCGA-E1-A7Z3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e93c7-09b0-4f5e-8e50-5485a1572fc1	cecdfd71-e1b1-4c90-a72d-c6770c44f2b5	g.chr22:21062373C>T	ENST00000255882.6	-	55	6357	c.6271G>A	c.(6271-6273)Gac>Aac	p.D2091N	PI4KA_ENST00000414196.3_Missense_Mutation_p.D843N|PI4KA_ENST00000572273.1_Missense_Mutation_p.D2033N	NM_058004.3	NP_477352.3	P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	2033					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			TGGATCATGTCGTAGGTCCGG	0.587													4	100					0	0	1	0	0	T	21062373	C	T	21062373	3	4	180	1	0	0	0	0	1	0	0	0	11921	884	31	1	41	1	PI4KA	22	21062373	Missense_Mutation	SNP	C	TCGA-E1-A7Z3-01A-11D-A34J-08		21062373	30242193	32	24152											
ASB11	140456	broad.mit.edu	37	X	15306083	15306083	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7Z3-01A-11D-A34J-08	TCGA-E1-A7Z3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e93c7-09b0-4f5e-8e50-5485a1572fc1	cecdfd71-e1b1-4c90-a72d-c6770c44f2b5	g.chrX:15306083C>T	ENST00000537676.1	-	6	776	c.704G>A	c.(703-705)cGt>cAt	p.R235H	ASB11_ENST00000480796.1_Missense_Mutation_p.R256H|ASB11_ENST00000344384.4_Missense_Mutation_p.R235H|ASB11_ENST00000380470.3_Missense_Mutation_p.R239H			Q8WXH4	ASB11_HUMAN	ankyrin repeat and SOCS box containing 11	256					intracellular signal transduction					breast(2)|central_nervous_system(4)|endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|skin(1)	16	Hepatocellular(33;0.183)					AGCATTTCTACGCTTCAGGTT	0.572													11	62					0	0	1	0	0	T	15306083	C	T	15306083	3	4	180	1	0	0	0	0	1	0	0	0	1014	536	19	1	212	1	ASB11	23	15306083	Missense_Mutation	SNP	C	TCGA-E1-A7Z3-01A-11D-A34J-08		15306083	139964477	33	24153											
CXorf38	159013	broad.mit.edu	37	X	40506561	40506561	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7Z3-01A-11D-A34J-08	TCGA-E1-A7Z3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e93c7-09b0-4f5e-8e50-5485a1572fc1	cecdfd71-e1b1-4c90-a72d-c6770c44f2b5	g.chrX:40506561C>T	ENST00000327877.5	-	1	238	c.212G>A	c.(211-213)cGc>cAc	p.R71H	CXorf38_ENST00000378421.1_5'UTR|CXorf38_ENST00000378426.1_5'UTR|CXorf38_ENST00000440784.2_Missense_Mutation_p.R71H|CXorf38_ENST00000378418.2_Missense_Mutation_p.R71H	NM_144970.2	NP_659407.1	Q8TB03	CX038_HUMAN	chromosome X open reading frame 38	71										NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	12						GCTCACCTGGCGGGCGCGAGG	0.751													4	12					0	0	1	0	0	T	40506561	C	T	40506561	3	4	180	1	0	0	0	0	1	0	0	0	4130	768	27	1	771	1	CXorf38	23	40506561	Missense_Mutation	SNP	C	TCGA-E1-A7Z3-01A-11D-A34J-08	25200478	40506561	114763999	34	24154											
ATRX	546	broad.mit.edu	37	X	76778764	76778767	+	Frame_Shift_Del	DEL	TTTC	TTTC	-			TCGA-E1-A7Z3-01A-11D-A34J-08	TCGA-E1-A7Z3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e93c7-09b0-4f5e-8e50-5485a1572fc1	cecdfd71-e1b1-4c90-a72d-c6770c44f2b5	g.chrX:76778764_76778767delTTTC	ENST00000373344.5	-	31	7026_7029	c.6812_6815delGAAA	c.(6811-6816)agaaaafs	p.RK2271fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.RK2233fs	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	2271			R -> G (in MRXSHF1).		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			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)	CCAAGCTGCTTTTCTTTCTTCTTC	0.368			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						72	235	---	---	---	---						-	76778767	TTTC	-	76778764	7	5	180	1	0	1	0	1	0	0	0	0	1206	1841	64	0	683	0	ATRX	23	76778764	Frame_Shift_Del	DEL	TTTC	TCGA-E1-A7Z3-01A-11D-A34J-08	36272203	76778764	78491796	35	24155											
COX7B	1349	broad.mit.edu	37	X	77155051	77155051	+	Translation_Start_Site	SNP	A	A	G			TCGA-E1-A7Z3-01A-11D-A34J-08	TCGA-E1-A7Z3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e93c7-09b0-4f5e-8e50-5485a1572fc1	cecdfd71-e1b1-4c90-a72d-c6770c44f2b5	g.chrX:77155051A>G	ENST00000481445.1	+	1	117	c.1A>G	c.(1-3)Atg>Gtg	p.M1V	COX7B_ENST00000475465.1_3'UTR	NM_001866.2	NP_001857.1	P24311	COX7B_HUMAN	cytochrome c oxidase subunit VIIb	1					respiratory electron transport chain	integral to membrane|mitochondrial respiratory chain	cytochrome-c oxidase activity			endometrium(2)	2						CACCTTCACGATGTTTCCCTT	0.443													7	81					0	0	1	0	0	G	77155051	A	G	77155051	1	3	180	1	0	0	0	0	0	0	0	0	3805	333	12	3		3	COX7B	23	77155051	Translation_Start_Site	SNP	A	TCGA-E1-A7Z3-01A-11D-A34J-08	376287	77155051	78115509	36	24156											
SOX3	6658	broad.mit.edu	37	X	139586563	139586563	+	Silent	SNP	A	A	G			TCGA-E1-A7Z3-01A-11D-A34J-08	TCGA-E1-A7Z3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e93c7-09b0-4f5e-8e50-5485a1572fc1	cecdfd71-e1b1-4c90-a72d-c6770c44f2b5	g.chrX:139586563A>G	ENST00000370536.2	-	1	662	c.663T>C	c.(661-663)gaT>gaC	p.D221D		NM_005634.2	NP_005625.2	P41225	SOX3_HUMAN	SRY (sex determining region Y)-box 3	221					face development|hypothalamus development|negative regulation of neuron differentiation|pituitary gland development|regulation of transcription, DNA-dependent|sensory organ development|sex determination|transcription, DNA-dependent	nucleus	DNA binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1)	10	Acute lymphoblastic leukemia(192;7.65e-05)					GGGAGTACTTATCTTTCTTGA	0.692													12	27					0	0	1	0	0	G	139586563	A	G	139586563	2	3	180	1	0	0	0	0	0	0	0	1	15005	446	16	3		3	SOX3	23	139586563	Silent	SNP	A	TCGA-E1-A7Z3-01A-11D-A34J-08	62431512	139586563	15683997	37	24157											
OR10J5	127385	broad.mit.edu	37	1	159504970	159504970	+	Silent	SNP	C	C	T			TCGA-E1-A7Z4-01A-11D-A34J-08	TCGA-E1-A7Z4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae08874-26ee-4ced-ab72-c2e1272f0140	606721a2-1d09-4bc6-9ebd-26abaf0a327e	g.chr1:159504970C>T	ENST00000334857.2	-	1	872	c.828G>A	c.(826-828)acG>acA	p.T276T		NM_001004469.1	NP_001004469.1	Q8NHC4	O10J5_HUMAN	olfactory receptor, family 10, subfamily J, member 5	276					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	22	all_hematologic(112;0.0429)					TGATGGTGTACGTCACTGAGA	0.458													49	62					0	0	1	0	0	T	159504970	C	T	159504970	2	4	181	1	0	0	0	0	0	0	0	1	10960	523	19	1		1	OR10J5	1	159504970	Silent	SNP	C	TCGA-E1-A7Z4-01A-11D-A34J-08		159504970	89745651	1	24158											
RANBP2	5903	broad.mit.edu	37	2	109357066	109357066	+	Missense_Mutation	SNP	C	C	A			TCGA-E1-A7Z4-01A-11D-A34J-08	TCGA-E1-A7Z4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae08874-26ee-4ced-ab72-c2e1272f0140	606721a2-1d09-4bc6-9ebd-26abaf0a327e	g.chr2:109357066C>A	ENST00000283195.6	+	7	1030	c.904C>A	c.(904-906)Cag>Aag	p.Q302K		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	302					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						GAAGATGGGTCAGCATAGTAG	0.413													6	358					0.248553	0.253841	1	1	0	A	109357066	C	A	109357066	3	1	181	1	0	0	0	0	1	0	0	0	13080	827	29	5	930	5	RANBP2	2	109357066	Missense_Mutation	SNP	C	TCGA-E1-A7Z4-01A-11D-A34J-08		109357066	133842307	2	24159											
LRP1B	53353	broad.mit.edu	37	2	141083421	141083421	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7Z4-01A-11D-A34J-08	TCGA-E1-A7Z4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae08874-26ee-4ced-ab72-c2e1272f0140	606721a2-1d09-4bc6-9ebd-26abaf0a327e	g.chr2:141083421G>A	ENST00000389484.3	-	80	13221	c.12250C>T	c.(12250-12252)Cgc>Tgc	p.R4084C		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4084					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CAATATATGCGTTCACTAAAA	0.378										TSP Lung(27;0.18)			4	69					0	0	1	0	0	A	141083421	G	A	141083421	3	1	181	1	0	0	0	0	1	0	0	0	9000	1145	40	1	1597	1	LRP1B	2	141083421	Missense_Mutation	SNP	G	TCGA-E1-A7Z4-01A-11D-A34J-08	31726355	141083421	102115952	3	24160											
TANK	10010	broad.mit.edu	37	2	162087928	162087928	+	Missense_Mutation	SNP	C	C	A			TCGA-E1-A7Z4-01A-11D-A34J-08	TCGA-E1-A7Z4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae08874-26ee-4ced-ab72-c2e1272f0140	606721a2-1d09-4bc6-9ebd-26abaf0a327e	g.chr2:162087928C>A	ENST00000392749.2	+	7	1206	c.967C>A	c.(967-969)Ctg>Atg	p.L323M	TANK_ENST00000402568.1_Intron|TANK_ENST00000406287.1_Intron|TANK_ENST00000259075.2_Missense_Mutation_p.L323M|AC009299.2_ENST00000445372.1_RNA|AC009299.2_ENST00000421122.2_RNA|TANK_ENST00000405852.1_Missense_Mutation_p.L323M	NM_001199135.1	NP_001186064.1	Q92844	TANK_HUMAN	TRAF family member-associated NFKB activator	323						cytosol	metal ion binding|protein binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)	21						CAGGACAACTCTGGATAGAGC	0.428													4	109					1	1	1	1	0	A	162087928	C	A	162087928	3	1	181	1	0	0	0	0	1	0	0	0	15603	912	32	4	1022	4	TANK	2	162087928	Missense_Mutation	SNP	C	TCGA-E1-A7Z4-01A-11D-A34J-08	21004507	162087928	81111445	4	24161											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-E1-A7Z4-01A-11D-A34J-08	TCGA-E1-A7Z4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae08874-26ee-4ced-ab72-c2e1272f0140	606721a2-1d09-4bc6-9ebd-26abaf0a327e	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								40	60					0	0	1	0	0	T	209113112	C	T	209113112	3	4	181	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-E1-A7Z4-01A-11D-A34J-08	47025184	209113112	34086261	5	24162											
CHRND	1144	broad.mit.edu	37	2	233391274	233391274	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7Z4-01A-11D-A34J-08	TCGA-E1-A7Z4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae08874-26ee-4ced-ab72-c2e1272f0140	606721a2-1d09-4bc6-9ebd-26abaf0a327e	g.chr2:233391274C>T	ENST00000258385.3	+	2	120	c.88C>T	c.(88-90)Cgg>Tgg	p.R30W	CHRND_ENST00000457943.2_5'UTR|CHRND_ENST00000536614.1_Missense_Mutation_p.R30W|CHRND_ENST00000543200.1_Missense_Mutation_p.R30W	NM_000751.2	NP_000742.1	Q07001	ACHD_HUMAN	cholinergic receptor, nicotinic, delta (muscle)	30					muscle contraction|musculoskeletal movement|neuromuscular process|skeletal muscle tissue growth|synaptic transmission	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)	34		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754)		GCGGCTGATCCGGCACCTGTT	0.632													36	56					0	0	1	0	0	T	233391274	C	T	233391274	3	4	181	1	0	0	0	0	1	0	0	0	3416	643	23	1	94	1	CHRND	2	233391274	Missense_Mutation	SNP	C	TCGA-E1-A7Z4-01A-11D-A34J-08	24278162	233391274	9808099	6	24163											
NIPAL4	348938	broad.mit.edu	37	5	156899689	156899689	+	Silent	SNP	C	C	A			TCGA-E1-A7Z4-01A-11D-A34J-08	TCGA-E1-A7Z4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae08874-26ee-4ced-ab72-c2e1272f0140	606721a2-1d09-4bc6-9ebd-26abaf0a327e	g.chr5:156899689C>A	ENST00000311946.7	+	6	1238	c.1122C>A	c.(1120-1122)atC>atA	p.I374I	NIPAL4_ENST00000435489.2_Silent_p.I355I|ADAM19_ENST00000430702.2_Intron	NM_001099287.1	NP_001092757.1	Q0D2K0	NIPA4_HUMAN	NIPA-like domain containing 4	374						integral to membrane	receptor activity			breast(3)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|skin(1)	22						CGTCCATCATCCTCTTCAAGG	0.512											OREG0016979	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	46	49					1.7489e-18	1.99875e-18	1	1	0	A	156899689	C	A	156899689	2	1	181	1	0	0	0	0	0	0	0	1	10474	845	30	5		5	NIPAL4	5	156899689	Silent	SNP	C	TCGA-E1-A7Z4-01A-11D-A34J-08		156899689	24015571	7	24164											
NIPAL4	348938	broad.mit.edu	37	5	156899850	156899850	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7Z4-01A-11D-A34J-08	TCGA-E1-A7Z4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae08874-26ee-4ced-ab72-c2e1272f0140	606721a2-1d09-4bc6-9ebd-26abaf0a327e	g.chr5:156899850C>T	ENST00000311946.7	+	6	1399	c.1283C>T	c.(1282-1284)cCc>cTc	p.P428L	NIPAL4_ENST00000435489.2_Missense_Mutation_p.P409L|ADAM19_ENST00000430702.2_Intron	NM_001099287.1	NP_001092757.1	Q0D2K0	NIPA4_HUMAN	NIPA-like domain containing 4	428						integral to membrane	receptor activity			breast(3)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|skin(1)	22						CCCCCTTCTCCCGCCCCGGAA	0.517													18	29					0	0	1	0	0	T	156899850	C	T	156899850	3	4	181	1	0	0	0	0	1	0	0	0	10474	623	22	2	1305	2	NIPAL4	5	156899850	Missense_Mutation	SNP	C	TCGA-E1-A7Z4-01A-11D-A34J-08	161	156899850	24015410	8	24165											
C6orf62	81688	broad.mit.edu	37	6	24718870	24718870	+	Silent	SNP	T	T	C			TCGA-E1-A7Z4-01A-11D-A34J-08	TCGA-E1-A7Z4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae08874-26ee-4ced-ab72-c2e1272f0140	606721a2-1d09-4bc6-9ebd-26abaf0a327e	g.chr6:24718870T>C	ENST00000378119.4	-	1	2194	c.27A>G	c.(25-27)aaA>aaG	p.K9K	C6orf62_ENST00000378102.3_Intron|C6orf62_ENST00000540769.1_Intron	NM_030939.4	NP_112201.1	Q9GZU0	CF062_HUMAN	chromosome 6 open reading frame 62	9						intracellular				endometrium(2)|kidney(3)|large_intestine(2)|lung(3)	10						TCAGAGCTTGTTTCTTCCGGG	0.398													4	184					0	0	1	0	0	C	24718870	T	C	24718870	2	2	181	1	0	0	0	0	0	0	0	1	2383	1722	60	3		3	C6orf62	6	24718870	Silent	SNP	T	TCGA-E1-A7Z4-01A-11D-A34J-08		24718870	146396197	9	24166											
CSMD1	64478	broad.mit.edu	37	8	2910030	2910030	+	Silent	SNP	T	T	C			TCGA-E1-A7Z4-01A-11D-A34J-08	TCGA-E1-A7Z4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae08874-26ee-4ced-ab72-c2e1272f0140	606721a2-1d09-4bc6-9ebd-26abaf0a327e	g.chr8:2910030T>C	ENST00000602557.1	-	51	8172	c.7617A>G	c.(7615-7617)caA>caG	p.Q2539Q	CSMD1_ENST00000602723.1_Silent_p.Q2539Q|CSMD1_ENST00000537824.1_Silent_p.Q2538Q|CSMD1_ENST00000542608.1_Silent_p.Q2538Q|CSMD1_ENST00000520002.1_Silent_p.Q2539Q|CSMD1_ENST00000400186.3_Silent_p.Q2539Q			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2539	Sushi 15.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		ACCCATCTTCTTGACACACGG	0.502													6	7					0	0	1	0	0	C	2910030	T	C	2910030	2	2	181	1	0	0	0	0	0	0	0	1	3969	1606	56	3		3	CSMD1	8	2910030	Silent	SNP	T	TCGA-E1-A7Z4-01A-11D-A34J-08		2910030	143453992	10	24167											
VPS13A	23230	broad.mit.edu	37	9	79820286	79820286	+	Missense_Mutation	SNP	T	T	C			TCGA-E1-A7Z4-01A-11D-A34J-08	TCGA-E1-A7Z4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae08874-26ee-4ced-ab72-c2e1272f0140	606721a2-1d09-4bc6-9ebd-26abaf0a327e	g.chr9:79820286T>C	ENST00000360280.3	+	4	505	c.245T>C	c.(244-246)gTa>gCa	p.V82A	VPS13A_ENST00000376636.3_Missense_Mutation_p.V82A|VPS13A_ENST00000376634.4_Missense_Mutation_p.V82A|VPS13A_ENST00000357409.5_Missense_Mutation_p.V82A	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	82					Golgi to endosome transport|protein transport	intracellular	protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						GTTGAAGCCGTATTGGAAGAA	0.229													9	129					0	0	1	0	0	C	79820286	T	C	79820286	3	2	181	1	0	0	0	0	1	0	0	0	17249	1638	57	3	259	3	VPS13A	9	79820286	Missense_Mutation	SNP	T	TCGA-E1-A7Z4-01A-11D-A34J-08		79820286	61393145	11	24168											
KIF27	55582	broad.mit.edu	37	9	86518658	86518658	+	Nonsense_Mutation	SNP	C	C	A			TCGA-E1-A7Z4-01A-11D-A34J-08	TCGA-E1-A7Z4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae08874-26ee-4ced-ab72-c2e1272f0140	606721a2-1d09-4bc6-9ebd-26abaf0a327e	g.chr9:86518658C>A	ENST00000297814.2	-	4	918	c.775G>T	c.(775-777)Gaa>Taa	p.E259*	KIF27_ENST00000413982.1_Nonsense_Mutation_p.E259*|KIF27_ENST00000334204.2_Nonsense_Mutation_p.E259*	NM_017576.1	NP_060046.1	Q86VH2	KIF27_HUMAN	kinesin family member 27	259	Kinesin-motor.				cilium assembly|microtubule-based movement	cilium|cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						TTGAACCGTTCACCAGTATTC	0.438													6	131					5.9392e-07	6.6298e-07	1	1	0	A	86518658	C	A	86518658	4	1	181	1	0	0	0	0	0	1	0	0	8338	835	29	5	3490	5	KIF27	9	86518658	Nonsense_Mutation	SNP	C	TCGA-E1-A7Z4-01A-11D-A34J-08	6698372	86518658	54694773	12	24169											
TLR4	7099	broad.mit.edu	37	9	120475584	120475584	+	Missense_Mutation	SNP	A	A	G			TCGA-E1-A7Z4-01A-11D-A34J-08	TCGA-E1-A7Z4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae08874-26ee-4ced-ab72-c2e1272f0140	606721a2-1d09-4bc6-9ebd-26abaf0a327e	g.chr9:120475584A>G	ENST00000355622.6	+	3	1279	c.1178A>G	c.(1177-1179)cAa>cGa	p.Q393R	TLR4_ENST00000394487.4_Missense_Mutation_p.Q353R|TLR4_ENST00000472304.1_3'UTR	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	393					activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						TGCTGTTCTCAAAGTGATTTT	0.388													17	132					0	0	1	0	0	G	120475584	A	G	120475584	3	3	181	1	0	0	0	0	1	0	0	0	16013	130	5	3	1188	3	TLR4	9	120475584	Missense_Mutation	SNP	A	TCGA-E1-A7Z4-01A-11D-A34J-08	33956926	120475584	20737847	13	24170											
AHNAK	79026	broad.mit.edu	37	11	62290002	62290002	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7Z4-01A-11D-A34J-08	TCGA-E1-A7Z4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae08874-26ee-4ced-ab72-c2e1272f0140	606721a2-1d09-4bc6-9ebd-26abaf0a327e	g.chr11:62290002C>T	ENST00000378024.4	-	5	12161	c.11887G>A	c.(11887-11889)Gtc>Atc	p.V3963I	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	3963					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				GGTCCTGAGACGTCAAGGTCA	0.483													24	476					0	0	1	0	0	T	62290002	C	T	62290002	3	4	181	1	0	0	0	0	1	0	0	0	411	536	19	1	5905	1	AHNAK	11	62290002	Missense_Mutation	SNP	C	TCGA-E1-A7Z4-01A-11D-A34J-08		62290002	72716514	14	24171											
APOBEC1	339	broad.mit.edu	37	12	7805222	7805222	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7Z4-01A-11D-A34J-08	TCGA-E1-A7Z4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae08874-26ee-4ced-ab72-c2e1272f0140	606721a2-1d09-4bc6-9ebd-26abaf0a327e	g.chr12:7805222G>A	ENST00000229304.4	-	3	274	c.254C>T	c.(253-255)aCc>aTc	p.T85I		NM_001644.3	NP_001635.2	P41238	ABEC1_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide 1	85					cytidine to uridine editing|DNA demethylation|lipid metabolic process|mRNA modification|mRNA processing|negative regulation of methylation-dependent chromatin silencing	nucleoplasm	cytidine deaminase activity|RNA binding|zinc ion binding			kidney(2)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|stomach(1)	17						CAAGAACCAGGTGATGGAGCA	0.473													9	59					0	0	1	0	0	A	7805222	G	A	7805222	3	1	181	1	0	0	0	0	1	0	0	0	784	1261	44	2	468	2	APOBEC1	12	7805222	Missense_Mutation	SNP	G	TCGA-E1-A7Z4-01A-11D-A34J-08		7805222	126046673	15	24172											
LRP1	4035	broad.mit.edu	37	12	57605713	57605713	+	Missense_Mutation	SNP	T	T	C	rs140219533		TCGA-E1-A7Z4-01A-11D-A34J-08	TCGA-E1-A7Z4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae08874-26ee-4ced-ab72-c2e1272f0140	606721a2-1d09-4bc6-9ebd-26abaf0a327e	g.chr12:57605713T>C	ENST00000243077.3	+	87	13728	c.13262T>C	c.(13261-13263)aTa>aCa	p.I4421T		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	4421					aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CCTCCAGATATAGCCTCCATC	0.612													8	84					0	0	1	0	0	C	57605713	T	C	57605713	3	2	181	1	0	0	0	0	1	0	0	0	8996	1406	49	3	13608	3	LRP1	12	57605713	Missense_Mutation	SNP	T	TCGA-E1-A7Z4-01A-11D-A34J-08	49800491	57605713	76246182	16	24173											
GNPTAB	79158	broad.mit.edu	37	12	102158787	102158787	+	Silent	SNP	C	C	T			TCGA-E1-A7Z4-01A-11D-A34J-08	TCGA-E1-A7Z4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae08874-26ee-4ced-ab72-c2e1272f0140	606721a2-1d09-4bc6-9ebd-26abaf0a327e	g.chr12:102158787C>T	ENST00000299314.7	-	13	2170	c.1908G>A	c.(1906-1908)agG>agA	p.R636R		NM_024312.4	NP_077288.2	Q3T906	GNPTA_HUMAN	N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits	636					cell differentiation	Golgi membrane|integral to membrane|nucleus	metal ion binding|transcription factor binding|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	37						TTGGTCCCTCCCTTGTGTCCA	0.403													37	64					0	0	1	0	0	T	102158787	C	T	102158787	2	4	181	1	0	0	0	0	0	0	0	1	6587	622	22	2		2	GNPTAB	12	102158787	Silent	SNP	C	TCGA-E1-A7Z4-01A-11D-A34J-08	44553074	102158787	31693108	17	24174											
SPG20	23111	broad.mit.edu	37	13	36909834	36909834	+	Missense_Mutation	SNP	T	T	A			TCGA-E1-A7Z4-01A-11D-A34J-08	TCGA-E1-A7Z4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae08874-26ee-4ced-ab72-c2e1272f0140	606721a2-1d09-4bc6-9ebd-26abaf0a327e	g.chr13:36909834T>A	ENST00000451493.1	-	2	351	c.134A>T	c.(133-135)tAc>tTc	p.Y45F	SPG20_ENST00000495510.1_5'UTR|SPG20_ENST00000355182.4_Missense_Mutation_p.Y45F|SPG20_ENST00000494062.2_Missense_Mutation_p.Y45F|SPG20_ENST00000438666.2_Missense_Mutation_p.Y45F	NM_001142295.1	NP_001135767.1	Q8N0X7	SPG20_HUMAN	spastic paraplegia 20 (Troyer syndrome)	45	MIT.				cell death	cytoplasm	ubiquitin protein ligase binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	27		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;2.42e-08)|Epithelial(112;1.58e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00128)|BRCA - Breast invasive adenocarcinoma(63;0.0125)|GBM - Glioblastoma multiforme(144;0.026)		TTGCTTATAGTAGTTCTTTGC	0.398													4	125					0	0	1	0	0	A	36909834	T	A	36909834	3	1	181	1	0	0	0	0	1	0	0	0	15098	1638	57	5	1898	5	SPG20	13	36909834	Missense_Mutation	SNP	T	TCGA-E1-A7Z4-01A-11D-A34J-08		36909834	78260044	18	24175											
CLMN	79789	broad.mit.edu	37	14	95677044	95677044	+	Missense_Mutation	SNP	G	G	C			TCGA-E1-A7Z4-01A-11D-A34J-08	TCGA-E1-A7Z4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae08874-26ee-4ced-ab72-c2e1272f0140	606721a2-1d09-4bc6-9ebd-26abaf0a327e	g.chr14:95677044G>C	ENST00000298912.4	-	7	894	c.781C>G	c.(781-783)Ccc>Gcc	p.P261A		NM_024734.3	NP_079010.2	Q96JQ2	CLMN_HUMAN	calmin (calponin-like, transmembrane)	261	Actin-binding.|CH 2.					integral to membrane	actin binding			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(17)|prostate(3)|skin(3)	44				Epithelial(152;0.193)		AGGAGCCTGGGGATGTGCAGG	0.473													46	54					0	0	1	0	0	C	95677044	G	C	95677044	3	2	181	1	0	0	0	0	1	0	0	0	3565	1232	43	5	2255	5	CLMN	14	95677044	Missense_Mutation	SNP	G	TCGA-E1-A7Z4-01A-11D-A34J-08		95677044	11672496	19	24176											
TP53	7157	broad.mit.edu	37	17	7578213	7578214	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-E1-A7Z4-01A-11D-A34J-08	TCGA-E1-A7Z4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae08874-26ee-4ced-ab72-c2e1272f0140	606721a2-1d09-4bc6-9ebd-26abaf0a327e	g.chr17:7578213_7578214delAA	ENST00000420246.2	-	6	767_768	c.635_636delTT	c.(634-636)tttfs	p.F212fs	TP53_ENST00000574684.1_Intron|TP53_ENST00000413465.2_Frame_Shift_Del_p.F212fs|TP53_ENST00000269305.4_Frame_Shift_Del_p.F212fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.F212fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.F212fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.F212fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	212	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		F -> I (in sporadic cancers; somatic mutation).|F -> L (in sporadic cancers; somatic mutation).|F -> S (in sporadic cancers; somatic mutation).|F -> V (in a sporadic cancer; somatic mutation).|F -> Y (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.F212fs*3(12)|p.0?(8)|p.?(5)|p.R213fs*35(3)|p.F212S(2)|p.F212L(2)|p.D208fs*1(1)|p.R209_R213delRNTFR(1)|p.F119fs*3(1)|p.T211fs*28(1)|p.D207_R213delDDRNTFR(1)|p.D207_V216del10(1)|p.T211_S215delTFRHS(1)|p.F80fs*3(1)|p.F212Y(1)|p.R120fs*35(1)|p.R209fs*6(1)|p.R81fs*>11(1)|p.D208_V216delDRNTFRHSV(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)		CACTATGTCGAAAAGTGTTTCT	0.535		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)			52	6	---	---	---	---						-	7578214	AA	-	7578213	7	5	181	1	0	1	0	1	0	0	0	0	16442	243	9	0	658	0	TP53	17	7578213	Frame_Shift_Del	DEL	AA	TCGA-E1-A7Z4-01A-11D-A34J-08		7578213	73616997	20	24177											
CD79B	974	broad.mit.edu	37	17	62007606	62007606	+	Silent	SNP	G	G	C			TCGA-E1-A7Z4-01A-11D-A34J-08	TCGA-E1-A7Z4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae08874-26ee-4ced-ab72-c2e1272f0140	606721a2-1d09-4bc6-9ebd-26abaf0a327e	g.chr17:62007606G>C	ENST00000006750.3	-	3	350	c.258C>G	c.(256-258)ccC>ccG	p.P86P	CD79B_ENST00000349817.2_Intron|CD79B_ENST00000392795.3_Silent_p.P87P	NM_000626.2|NM_021602.2	NP_000617.1|NP_067613.1	P40259	CD79B_HUMAN	CD79b molecule, immunoglobulin-associated beta	86	Ig-like V-type.				cell surface receptor linked signaling pathway|immune response	Golgi apparatus|integral to plasma membrane|nucleus	transmembrane receptor activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)	15						TCAGCTGCTGGGGATTCTCGT	0.562			"Mis, O"		DLBCL								4	67					0	0	1	0	0	C	62007606	G	C	62007606	2	2	181	1	0	0	0	0	0	0	0	1	3059	1219	43	5		5	CD79B	17	62007606	Silent	SNP	G	TCGA-E1-A7Z4-01A-11D-A34J-08	54429393	62007606	19187604	21	24178											
ENOSF1	55556	broad.mit.edu	37	18	677371	677371	+	Missense_Mutation	SNP	T	T	C			TCGA-E1-A7Z4-01A-11D-A34J-08	TCGA-E1-A7Z4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae08874-26ee-4ced-ab72-c2e1272f0140	606721a2-1d09-4bc6-9ebd-26abaf0a327e	g.chr18:677371T>C	ENST00000319815.6	-	6	1696	c.432A>G	c.(430-432)atA>atG	p.I144M	ENOSF1_ENST00000340116.7_Missense_Mutation_p.I381M|ENOSF1_ENST00000251101.7_Missense_Mutation_p.I374M|ENOSF1_ENST00000580982.1_Missense_Mutation_p.I298M|ENOSF1_ENST00000383578.3_Missense_Mutation_p.I292M|ENOSF1_ENST00000583973.1_5'UTR			Q7L5Y1	ENOF1_HUMAN	enolase superfamily member 1	374					cellular amino acid catabolic process	mitochondrion	isomerase activity|metal ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	10						CAGAAACTGATATGTAGTCAA	0.423													32	56					0	0	1	0	0	C	677371	T	C	677371	3	2	181	1	0	0	0	0	1	0	0	0	5153	1396	49	3	221	3	ENOSF1	18	677371	Missense_Mutation	SNP	T	TCGA-E1-A7Z4-01A-11D-A34J-08		677371	77399877	22	24179											
SSBP4	170463	broad.mit.edu	37	19	18541701	18541701	+	Missense_Mutation	SNP	C	C	A			TCGA-E1-A7Z4-01A-11D-A34J-08	TCGA-E1-A7Z4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae08874-26ee-4ced-ab72-c2e1272f0140	606721a2-1d09-4bc6-9ebd-26abaf0a327e	g.chr19:18541701C>A	ENST00000270061.7	+	5	624	c.330C>A	c.(328-330)gaC>gaA	p.D110E	SSBP4_ENST00000348495.6_Missense_Mutation_p.D110E|SSBP4_ENST00000598159.2_3'UTR	NM_032627.4	NP_116016.1	Q9BWG4	SSBP4_HUMAN	single stranded DNA binding protein 4							nucleus	single-stranded DNA binding			endometrium(2)|kidney(1)|skin(1)	4						CCCCAGGTGACACAATGGCCG	0.647													3	30					2.56e-06	2.79273e-06	1	1	0	A	18541701	C	A	18541701	3	1	181	1	0	0	0	0	1	0	0	0	15238	477	17	5	348	5	SSBP4	19	18541701	Missense_Mutation	SNP	C	TCGA-E1-A7Z4-01A-11D-A34J-08		18541701	40587282	23	24180											
CCDC114	93233	broad.mit.edu	37	19	48806994	48806994	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7Z4-01A-11D-A34J-08	TCGA-E1-A7Z4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae08874-26ee-4ced-ab72-c2e1272f0140	606721a2-1d09-4bc6-9ebd-26abaf0a327e	g.chr19:48806994C>T	ENST00000315396.7	-	8	1472	c.790G>A	c.(790-792)Gtg>Atg	p.V264M		NM_144577.3	NP_653178.3	Q96M63	CC114_HUMAN	coiled-coil domain containing 114	264										cervix(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)	24		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000162)|Epithelial(262;0.0134)|GBM - Glioblastoma multiforme(486;0.0143)		TAGCAAAGCACCAGCCTCTCC	0.622													11	105					0	0	1	0	0	T	48806994	C	T	48806994	3	4	181	1	0	0	0	0	1	0	0	0	2769	507	18	2	1250	2	CCDC114	19	48806994	Missense_Mutation	SNP	C	TCGA-E1-A7Z4-01A-11D-A34J-08	30265293	48806994	10321989	24	24181											
MBTPS2	51360	broad.mit.edu	37	X	21857869	21857871	+	In_Frame_Del	DEL	TGG	TGG	-			TCGA-E1-A7Z4-01A-11D-A34J-08	TCGA-E1-A7Z4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae08874-26ee-4ced-ab72-c2e1272f0140	606721a2-1d09-4bc6-9ebd-26abaf0a327e	g.chrX:21857869_21857871delTGG	ENST00000365779.2	+	1	98_100	c.17_19delTGG	c.(16-21)ctggtg>ctg	p.V11del	MBTPS2_ENST00000465888.1_3'UTR|MBTPS2_ENST00000379484.5_In_Frame_Del_p.V11del			O43462	MBTP2_HUMAN	membrane-bound transcription factor peptidase, site 2	11					cholesterol metabolic process|proteolysis	Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity			breast(2)|endometrium(3)|large_intestine(3)|lung(13)|ovary(1)|skin(2)	24						CCGGTGTCGCTGGTGGTGGTGGT	0.685													2	4	---	---	---	---						-	21857871	TGG	-	21857869	7	5	181	1	0	1	0	1	0	0	0	0	9412	1580	55	0	19	0	MBTPS2	23	21857869	In_Frame_Del	DEL	TGG	TCGA-E1-A7Z4-01A-11D-A34J-08		21857869	133412691	25	24182											
ATRX	546	broad.mit.edu	37	X	76938562	76938562	+	Nonsense_Mutation	SNP	G	G	C			TCGA-E1-A7Z4-01A-11D-A34J-08	TCGA-E1-A7Z4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae08874-26ee-4ced-ab72-c2e1272f0140	606721a2-1d09-4bc6-9ebd-26abaf0a327e	g.chrX:76938562G>C	ENST00000373344.5	-	9	2400	c.2186C>G	c.(2185-2187)tCa>tGa	p.S729*	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Nonsense_Mutation_p.S691*	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	729					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)	ATCAGAATCTGAATTTTGATC	0.348			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						86	40					0	0	1	0	0	C	76938562	G	C	76938562	4	2	181	1	0	0	0	0	0	1	0	0	1206	1294	45	5	5400	5	ATRX	23	76938562	Nonsense_Mutation	SNP	G	TCGA-E1-A7Z4-01A-11D-A34J-08	55080693	76938562	78331998	26	24183											
UROD	7389	broad.mit.edu	37	1	45480412	45480412	+	Missense_Mutation	SNP	T	T	C			TCGA-E1-A7Z6-01A-11D-A34J-08	TCGA-E1-A7Z6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97b400be-5f0e-4a7b-85d0-5eb0c777f114	8283b058-d6c7-4250-b9b5-bf996e71f287	g.chr1:45480412T>C	ENST00000246337.4	+	8	898	c.779T>C	c.(778-780)aTc>aCc	p.I260T	UROD_ENST00000494399.1_3'UTR	NM_000374.4	NP_000365.3	P06132	DCUP_HUMAN	uroporphyrinogen decarboxylase	260			I -> T (in FPCT; decrease of activity).			cytosol|microtubule cytoskeleton|nucleus	uroporphyrinogen decarboxylase activity			endometrium(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	4	Acute lymphoblastic leukemia(166;0.155)					TTCTAGATCATCTTTGCTAAG	0.522									Porphyria Cutanea Tarda, Type II		OREG0013449	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	37					0	0	1	0	0	C	45480412	T	C	45480412	3	2	182	1	0	0	0	0	1	0	0	0	17089	1435	50	3	809	3	UROD	1	45480412	Missense_Mutation	SNP	T	TCGA-E1-A7Z6-01A-11D-A34J-08		45480412	203770209	1	24184											
OR10J5	127385	broad.mit.edu	37	1	159505472	159505472	+	Missense_Mutation	SNP	G	G	C			TCGA-E1-A7Z6-01A-11D-A34J-08	TCGA-E1-A7Z6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97b400be-5f0e-4a7b-85d0-5eb0c777f114	8283b058-d6c7-4250-b9b5-bf996e71f287	g.chr1:159505472G>C	ENST00000334857.2	-	1	370	c.326C>G	c.(325-327)aCt>aGt	p.T109S		NM_001004469.1	NP_001004469.1	Q8NHC4	O10J5_HUMAN	olfactory receptor, family 10, subfamily J, member 5	109					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	22	all_hematologic(112;0.0429)					GCAATTATTAGTGGCCAAGAT	0.458													14	55					0	0	1	0	0	C	159505472	G	C	159505472	3	2	182	1	0	0	0	0	1	0	0	0	10960	1029	36	4	605	4	OR10J5	1	159505472	Missense_Mutation	SNP	G	TCGA-E1-A7Z6-01A-11D-A34J-08	114025060	159505472	89745149	2	24185											
CACYBP	27101	broad.mit.edu	37	1	174973950	174973950	+	Splice_Site	SNP	G	G	A			TCGA-E1-A7Z6-01A-11D-A34J-08	TCGA-E1-A7Z6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97b400be-5f0e-4a7b-85d0-5eb0c777f114	8283b058-d6c7-4250-b9b5-bf996e71f287	g.chr1:174973950G>A	ENST00000406752.1	+	2	216	c.216G>A	c.(214-216)acG>acA	p.T72T	CACYBP_ENST00000367681.2_Silent_p.T29T|CACYBP_ENST00000405362.1_Silent_p.T29T|CACYBP_ENST00000367679.2_Silent_p.T72T			Q9HB71	CYBP_HUMAN	calcyclin binding protein	72	Interaction with SIAH1.					beta-catenin destruction complex	protein homodimerization activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)	11						CGGGCTATACGGTGAAAATCA	0.413													17	64					0	0	1	0	0	A	174973950	G	A	174973950	5	1	182	1	0	0	0	0	0	0	1	0	2582	1103	39	1	222	1	CACYBP	1	174973950	Splice_Site	SNP	G	TCGA-E1-A7Z6-01A-11D-A34J-08	15468478	174973950	74276671	3	24186											
TPO	7173	broad.mit.edu	37	2	1437212	1437212	+	Missense_Mutation	SNP	A	A	G			TCGA-E1-A7Z6-01A-11D-A34J-08	TCGA-E1-A7Z6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97b400be-5f0e-4a7b-85d0-5eb0c777f114	8283b058-d6c7-4250-b9b5-bf996e71f287	g.chr2:1437212A>G	ENST00000345913.4	+	4	273	c.182A>G	c.(181-183)aAc>aGc	p.N61S	TPO_ENST00000539820.1_Missense_Mutation_p.N61S|TPO_ENST00000382269.3_Missense_Mutation_p.N61S|TPO_ENST00000329066.4_Missense_Mutation_p.N61S|TPO_ENST00000382201.3_Missense_Mutation_p.N61S|TPO_ENST00000349624.3_Missense_Mutation_p.N61S|TPO_ENST00000346956.3_Missense_Mutation_p.N61S|TPO_ENST00000337415.3_Missense_Mutation_p.N61S|TPO_ENST00000497517.2_Intron|TPO_ENST00000382198.1_Missense_Mutation_p.N61S	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	61					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	TGCCATAGAAACCTCAAGAAA	0.363													3	75					0	0	1	0	0	G	1437212	A	G	1437212	3	3	182	1	0	0	0	0	1	0	0	0	16471	43	2	3	192	3	TPO	2	1437212	Missense_Mutation	SNP	A	TCGA-E1-A7Z6-01A-11D-A34J-08		1437212	241762161	4	24187											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-E1-A7Z6-01A-11D-A34J-08	TCGA-E1-A7Z6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97b400be-5f0e-4a7b-85d0-5eb0c777f114	8283b058-d6c7-4250-b9b5-bf996e71f287	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	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								25	48					0	0	1	0	0	T	209113112	C	T	209113112	3	4	182	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-E1-A7Z6-01A-11D-A34J-08	207675900	209113112	34086261	5	24188											
COL6A6	131873	broad.mit.edu	37	3	130285651	130285651	+	Missense_Mutation	SNP	T	T	C			TCGA-E1-A7Z6-01A-11D-A34J-08	TCGA-E1-A7Z6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97b400be-5f0e-4a7b-85d0-5eb0c777f114	8283b058-d6c7-4250-b9b5-bf996e71f287	g.chr3:130285651T>C	ENST00000358511.6	+	4	1419	c.1388T>C	c.(1387-1389)gTa>gCa	p.V463A	COL6A6_ENST00000453409.2_Missense_Mutation_p.V463A	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	463	Nonhelical region.|VWFA 3.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						TCAGAGGTGGTAGGGATGTTC	0.498													4	51					0	0	1	0	0	C	130285651	T	C	130285651	3	2	182	1	0	0	0	0	1	0	0	0	3726	1638	57	3	1402	3	COL6A6	3	130285651	Missense_Mutation	SNP	T	TCGA-E1-A7Z6-01A-11D-A34J-08		130285651	67736779	6	24189											
ANK2	287	broad.mit.edu	37	4	114239726	114239726	+	Silent	SNP	C	C	T			TCGA-E1-A7Z6-01A-11D-A34J-08	TCGA-E1-A7Z6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97b400be-5f0e-4a7b-85d0-5eb0c777f114	8283b058-d6c7-4250-b9b5-bf996e71f287	g.chr4:114239726C>T	ENST00000357077.4	+	26	2903	c.2850C>T	c.(2848-2850)ggC>ggT	p.G950G	ANK2_ENST00000394537.3_Silent_p.G950G|ANK2_ENST00000506722.1_Silent_p.G929G|ANK2_ENST00000509550.1_Silent_p.G159G|ANK2_ENST00000264366.6_Silent_p.G950G	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	950					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TAAGCTGGGGCACTGAGAACT	0.403													10	10					0	0	1	0	0	T	114239726	C	T	114239726	2	4	182	1	0	0	0	0	0	0	0	1	617	697	25	2		2	ANK2	4	114239726	Silent	SNP	C	TCGA-E1-A7Z6-01A-11D-A34J-08		114239726	76914550	7	24190											
RPP40	10799	broad.mit.edu	37	6	5002336	5002336	+	Splice_Site	SNP	T	T	A			TCGA-E1-A7Z6-01A-11D-A34J-08	TCGA-E1-A7Z6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97b400be-5f0e-4a7b-85d0-5eb0c777f114	8283b058-d6c7-4250-b9b5-bf996e71f287	g.chr6:5002336T>A	ENST00000380051.2	-	2	311	c.267A>T	c.(265-267)aaA>aaT	p.K89N	RPP40_ENST00000319533.5_Splice_Site_p.K89N|RPP40_ENST00000464646.1_Splice_Site_p.K29N	NM_006638.2	NP_006629.2	O75818	RPP40_HUMAN	ribonuclease P/MRP 40kDa subunit	89					tRNA processing	nucleolar ribonuclease P complex	protein binding|ribonuclease P activity			NS(1)|breast(1)|large_intestine(4)|lung(4)|ovary(1)|skin(2)|urinary_tract(1)	14	Ovarian(93;0.11)	all_hematologic(90;0.0895)				TTTTCTTACCTTTCTTTATAA	0.408													10	143					0	0	1	0	0	A	5002336	T	A	5002336	5	1	182	1	0	0	0	0	0	0	1	0	13666	1623	56	5	852	5	RPP40	6	5002336	Splice_Site	SNP	T	TCGA-E1-A7Z6-01A-11D-A34J-08		5002336	166112731	8	24191											
SMARCD3	6604	broad.mit.edu	37	7	150945585	150945585	+	Missense_Mutation	SNP	G	G	C			TCGA-E1-A7Z6-01A-11D-A34J-08	TCGA-E1-A7Z6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97b400be-5f0e-4a7b-85d0-5eb0c777f114	8283b058-d6c7-4250-b9b5-bf996e71f287	g.chr7:150945585G>C	ENST00000262188.8	-	1	474	c.64C>G	c.(64-66)Ctg>Gtg	p.L22V	SMARCD3_ENST00000356800.2_Intron|SMARCD3_ENST00000392811.2_Intron|SMARCD3_ENST00000477169.1_Intron	NM_001003801.1	NP_001003801.1	Q6STE5	SMRD3_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 3	22					cellular lipid metabolic process|chromatin modification|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	nuclear hormone receptor binding|protein binding|transcription coactivator activity|transcription factor binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(6)|ovary(2)	15			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CCATGGACCAGAAACTCAAAA	0.647													88	88					0	0	1	0	0	C	150945585	G	C	150945585	3	2	182	1	0	0	0	0	1	0	0	0	14833	933	33	4	1439	4	SMARCD3	7	150945585	Missense_Mutation	SNP	G	TCGA-E1-A7Z6-01A-11D-A34J-08		150945585	8193078	9	24192											
SGCZ	137868	broad.mit.edu	37	8	14181681	14181681	+	Silent	SNP	C	C	T			TCGA-E1-A7Z6-01A-11D-A34J-08	TCGA-E1-A7Z6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97b400be-5f0e-4a7b-85d0-5eb0c777f114	8283b058-d6c7-4250-b9b5-bf996e71f287	g.chr8:14181681C>T	ENST00000382080.1	-	3	982	c.267G>A	c.(265-267)aaG>aaA	p.K89K	SGCZ_ENST00000421524.2_Intron	NM_139167.2	NP_631906.2	Q96LD1	SGCZ_HUMAN	sarcoglycan, zeta	76					cytoskeleton organization	cytoplasm|cytoskeleton|integral to membrane|sarcolemma				NS(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(14)|lung(15)|ovary(2)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	47				all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026)		GTCGGATTCCCTTCTTGGTGA	0.358													14	22					0	0	1	0	0	T	14181681	C	T	14181681	2	4	182	1	0	0	0	0	0	0	0	1	14258	680	24	2		2	SGCZ	8	14181681	Silent	SNP	C	TCGA-E1-A7Z6-01A-11D-A34J-08		14181681	132182341	10	24193											
PTPRD	5789	broad.mit.edu	37	9	8341765	8341765	+	Silent	SNP	C	C	T			TCGA-E1-A7Z6-01A-11D-A34J-08	TCGA-E1-A7Z6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97b400be-5f0e-4a7b-85d0-5eb0c777f114	8283b058-d6c7-4250-b9b5-bf996e71f287	g.chr9:8341765C>T	ENST00000381196.4	-	37	5418	c.4875G>A	c.(4873-4875)ttG>ttA	p.L1625L	PTPRD_ENST00000356435.5_Silent_p.L1625L|PTPRD_ENST00000397617.3_Silent_p.L1218L|PTPRD_ENST00000397606.3_Silent_p.L1218L|PTPRD_ENST00000397611.3_Silent_p.L1215L|PTPRD_ENST00000537002.1_Silent_p.L1215L|PTPRD_ENST00000360074.4_Silent_p.L1612L|PTPRD_ENST00000358503.5_Silent_p.L1603L|PTPRD_ENST00000355233.5_Silent_p.L1219L|PTPRD_ENST00000486161.1_Silent_p.L1218L|PTPRD_ENST00000540109.1_Silent_p.L1625L	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1625					transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		TGTAGGCATACAAGTTTCTAG	0.403										TSP Lung(15;0.13)			78	123					0	0	1	0	0	T	8341765	C	T	8341765	2	4	182	1	0	0	0	0	0	0	0	1	12851	477	17	2		2	PTPRD	9	8341765	Silent	SNP	C	TCGA-E1-A7Z6-01A-11D-A34J-08		8341765	132871666	11	24194											
DOLK	22845	broad.mit.edu	37	9	131708674	131708674	+	Silent	SNP	A	A	G			TCGA-E1-A7Z6-01A-11D-A34J-08	TCGA-E1-A7Z6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97b400be-5f0e-4a7b-85d0-5eb0c777f114	8283b058-d6c7-4250-b9b5-bf996e71f287	g.chr9:131708674A>G	ENST00000372586.3	-	1	1224	c.909T>C	c.(907-909)taT>taC	p.Y303Y	RP11-101E3.5_ENST00000482796.1_Intron	NM_014908.3	NP_055723.1	Q9UPQ8	DOLK_HUMAN	dolichol kinase	303					dolichyl diphosphate biosynthetic process|dolichyl monophosphate biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to endoplasmic reticulum membrane|membrane fraction	dolichol kinase activity			breast(1)|large_intestine(5)|lung(3)|ovary(1)|urinary_tract(1)	11						GCAGAGACCAATAGGCTAGGA	0.602													20	146					0	0	1	0	0	G	131708674	A	G	131708674	2	3	182	1	0	0	0	0	0	0	0	1	4730	108	4	3		3	DOLK	9	131708674	Silent	SNP	A	TCGA-E1-A7Z6-01A-11D-A34J-08	123366909	131708674	9504757	12	24195											
FAM181B	220382	broad.mit.edu	37	11	82444517	82444517	+	Silent	SNP	G	G	C			TCGA-E1-A7Z6-01A-11D-A34J-08	TCGA-E1-A7Z6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97b400be-5f0e-4a7b-85d0-5eb0c777f114	8283b058-d6c7-4250-b9b5-bf996e71f287	g.chr11:82444517G>C	ENST00000329203.3	-	1	389	c.255C>G	c.(253-255)ggC>ggG	p.G85G		NM_175885.3	NP_787081.2	A6NEQ2	F181B_HUMAN	family with sequence similarity 181, member B	85										large_intestine(1)|lung(2)|prostate(1)	4						GCTTCGACTTGCCCGGCTTGT	0.677													3	7					0	0	1	0	0	C	82444517	G	C	82444517	2	2	182	1	0	0	0	0	0	0	0	1	5540	1306	46	5		5	FAM181B	11	82444517	Silent	SNP	G	TCGA-E1-A7Z6-01A-11D-A34J-08		82444517	52561999	13	24196											
NPAT	4863	broad.mit.edu	37	11	108043104	108043104	+	Silent	SNP	A	A	G			TCGA-E1-A7Z6-01A-11D-A34J-08	TCGA-E1-A7Z6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97b400be-5f0e-4a7b-85d0-5eb0c777f114	8283b058-d6c7-4250-b9b5-bf996e71f287	g.chr11:108043104A>G	ENST00000278612.8	-	13	2712	c.2607T>C	c.(2605-2607)gcT>gcC	p.A869A	NPAT_ENST00000610253.1_5'UTR	NM_002519.2	NP_002510.2	Q14207	NPAT_HUMAN	nuclear protein, ataxia-telangiectasia locus	869					positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	protein C-terminus binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5)	46		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)		TCACACAGGTAGCTATCAGAA	0.433													4	108					0	0	1	0	0	G	108043104	A	G	108043104	2	3	182	1	0	0	0	0	0	0	0	1	10613	407	15	3		3	NPAT	11	108043104	Silent	SNP	A	TCGA-E1-A7Z6-01A-11D-A34J-08	25598587	108043104	26963412	14	24197											
NUP107	57122	broad.mit.edu	37	12	69085759	69085759	+	Silent	SNP	G	G	C			TCGA-E1-A7Z6-01A-11D-A34J-08	TCGA-E1-A7Z6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97b400be-5f0e-4a7b-85d0-5eb0c777f114	8283b058-d6c7-4250-b9b5-bf996e71f287	g.chr12:69085759G>C	ENST00000229179.4	+	5	647	c.315G>C	c.(313-315)ctG>ctC	p.L105L	NUP107_ENST00000378905.2_Intron|NUP107_ENST00000539906.1_Silent_p.L76L	NM_020401.2	NP_065134.1	P57740	NU107_HUMAN	nucleoporin 107kDa	105					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding		NUP107/LGR5(2)	breast(3)|endometrium(4)|kidney(4)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(2)	39	Breast(13;6.25e-06)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)			TTACTAATCTGGATGACAGTA	0.368													5	70					0	0	1	0	0	C	69085759	G	C	69085759	2	2	182	1	0	0	0	0	0	0	0	1	10801	1335	47	5		5	NUP107	12	69085759	Silent	SNP	G	TCGA-E1-A7Z6-01A-11D-A34J-08		69085759	64766136	15	24198											
ACSM5	54988	broad.mit.edu	37	16	20422897	20422897	+	Missense_Mutation	SNP	G	G	C			TCGA-E1-A7Z6-01A-11D-A34J-08	TCGA-E1-A7Z6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97b400be-5f0e-4a7b-85d0-5eb0c777f114	8283b058-d6c7-4250-b9b5-bf996e71f287	g.chr16:20422897G>C	ENST00000331849.4	+	2	238	c.91G>C	c.(91-93)Gtt>Ctt	p.V31L	ACSM5_ENST00000575584.1_Missense_Mutation_p.V31L	NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5	31					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						ACCTCTACCTGTTCCTCAGAA	0.577													13	24					0	0	1	0	0	C	20422897	G	C	20422897	3	2	182	1	0	0	0	0	1	0	0	0	187	1377	48	5	93	5	ACSM5	16	20422897	Missense_Mutation	SNP	G	TCGA-E1-A7Z6-01A-11D-A34J-08		20422897	69931856	16	24199											
TP53	7157	broad.mit.edu	37	17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	rs121913343		TCGA-E1-A7Z6-01A-11D-A34J-08	TCGA-E1-A7Z6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97b400be-5f0e-4a7b-85d0-5eb0c777f114	8283b058-d6c7-4250-b9b5-bf996e71f287	g.chr17:7577121G>A	ENST00000420246.2	-	8	949	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000269305.4_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	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).		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.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			22	4					0	0	1	0	0	A	7577121	G	A	7577121	3	1	182	1	0	0	0	0	1	0	0	0	16442	1087	38	1	469	1	TP53	17	7577121	Missense_Mutation	SNP	G	TCGA-E1-A7Z6-01A-11D-A34J-08		7577121	73618089	17	24200											
UTP6	55813	broad.mit.edu	37	17	30216366	30216366	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7Z6-01A-11D-A34J-08	TCGA-E1-A7Z6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97b400be-5f0e-4a7b-85d0-5eb0c777f114	8283b058-d6c7-4250-b9b5-bf996e71f287	g.chr17:30216366C>T	ENST00000261708.4	-	7	618	c.481G>A	c.(481-483)Gca>Aca	p.A161T	UTP6_ENST00000490218.2_5'UTR	NM_018428.2	NP_060898.2	Q9NYH9	UTP6_HUMAN	UTP6, small subunit (SSU) processome component, homolog (yeast)	161					rRNA processing	nucleolus	binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)	21		all_hematologic(16;0.0149)|Ovarian(249;0.021)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|Breast(31;0.231)				AGTTGCCTTGCGCTTTCTGAA	0.393													22	199					0	0	1	0	0	T	30216366	C	T	30216366	3	4	182	1	0	0	0	0	1	0	0	0	17162	768	27	1	1364	1	UTP6	17	30216366	Missense_Mutation	SNP	C	TCGA-E1-A7Z6-01A-11D-A34J-08	22639245	30216366	50978844	18	24201											
KRT33A	3883	broad.mit.edu	37	17	39502820	39502820	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7Z6-01A-11D-A34J-08	TCGA-E1-A7Z6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97b400be-5f0e-4a7b-85d0-5eb0c777f114	8283b058-d6c7-4250-b9b5-bf996e71f287	g.chr17:39502820G>A	ENST00000007735.3	-	6	1021	c.977C>T	c.(976-978)gCg>gTg	p.A326V		NM_004138.3	NP_004129.2	O76009	KT33A_HUMAN	keratin 33A	326	Coil 2.|Rod.					intermediate filament	protein binding|structural molecule activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	21		Breast(137;0.000496)				GCGGATCTCCGCCAGCTGGGA	0.627													4	83					0	0	1	0	0	A	39502820	G	A	39502820	3	1	182	1	0	0	0	0	1	0	0	0	8512	1087	38	1	245	1	KRT33A	17	39502820	Missense_Mutation	SNP	G	TCGA-E1-A7Z6-01A-11D-A34J-08	9286454	39502820	41692390	19	24202											
DSG2	1829	broad.mit.edu	37	18	29102206	29102206	+	Missense_Mutation	SNP	C	C	A			TCGA-E1-A7Z6-01A-11D-A34J-08	TCGA-E1-A7Z6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97b400be-5f0e-4a7b-85d0-5eb0c777f114	8283b058-d6c7-4250-b9b5-bf996e71f287	g.chr18:29102206C>A	ENST00000261590.8	+	6	893	c.684C>A	c.(682-684)gaC>gaA	p.D228E	DSG2_ENST00000585206.1_Missense_Mutation_p.D228E	NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	desmoglein 2	228	Cadherin 2.				cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			TTACCTTGGACAGAGAGGTAA	0.348													20	41					2.37509e-13	2.50704e-13	1	1	0	A	29102206	C	A	29102206	3	1	182	1	0	0	0	0	1	0	0	0	4803	477	17	5	706	5	DSG2	18	29102206	Missense_Mutation	SNP	C	TCGA-E1-A7Z6-01A-11D-A34J-08		29102206	48975042	20	24203											
MTMR8	55613	broad.mit.edu	37	X	63563595	63563595	+	Missense_Mutation	SNP	C	C	G			TCGA-E1-A7Z6-01A-11D-A34J-08	TCGA-E1-A7Z6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97b400be-5f0e-4a7b-85d0-5eb0c777f114	8283b058-d6c7-4250-b9b5-bf996e71f287	g.chrX:63563595C>G	ENST00000374852.3	-	8	938	c.871G>C	c.(871-873)Gaa>Caa	p.E291Q	MTMR8_ENST00000478487.1_5'UTR|MTMR8_ENST00000453546.1_Missense_Mutation_p.E291Q	NM_017677.3	NP_060147.2	Q96EF0	MTMR8_HUMAN	myotubularin related protein 8	291	Myotubularin phosphatase.					nuclear envelope	protein tyrosine phosphatase activity	p.0?(1)		breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|skin(3)	37						GTTTTCAATTCACAAACTAAG	0.383													15	18					0	0	1	0	0	G	63563595	C	G	63563595	3	3	182	1	0	0	0	0	1	0	0	0	9997	835	29	5	1271	5	MTMR8	23	63563595	Missense_Mutation	SNP	C	TCGA-E1-A7Z6-01A-11D-A34J-08		63563595	91706965	21	24204											
RGAG4	340526	broad.mit.edu	37	X	71350457	71350457	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7Z6-01A-11D-A34J-08	TCGA-E1-A7Z6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97b400be-5f0e-4a7b-85d0-5eb0c777f114	8283b058-d6c7-4250-b9b5-bf996e71f287	g.chrX:71350457G>A	ENST00000545866.1	-	1	1301	c.934C>T	c.(934-936)Cgc>Tgc	p.R312C	RGAG4_ENST00000609883.1_Missense_Mutation_p.R312C|NHSL2_ENST00000540800.1_Intron	NM_001024455.3	NP_001019626.1	Q5HYW3	RGAG4_HUMAN	retrotransposon gag domain containing 4	312										cervix(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|skin(1)	24	Renal(35;0.156)					TTGGGAACGCGCACTTTTCTT	0.483													15	148					0	0	1	0	0	A	71350457	G	A	71350457	3	1	182	1	0	0	0	0	1	0	0	0	13327	1087	38	1	779	1	RGAG4	23	71350457	Missense_Mutation	SNP	G	TCGA-E1-A7Z6-01A-11D-A34J-08	7786862	71350457	83920103	22	24205											
ATRX	546	broad.mit.edu	37	X	76939469	76939470	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-E1-A7Z6-01A-11D-A34J-08	TCGA-E1-A7Z6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97b400be-5f0e-4a7b-85d0-5eb0c777f114	8283b058-d6c7-4250-b9b5-bf996e71f287	g.chrX:76939469_76939470delTC	ENST00000373344.5	-	9	1492_1493	c.1278_1279delGA	c.(1276-1281)gagaaafs	p.K427fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.K389fs	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	427					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)	TTGGTATTTTTCTCTTTGTTTA	0.366			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						127	240	---	---	---	---						-	76939470	TC	-	76939469	7	5	182	1	0	1	0	1	0	0	0	0	1206	1792	62	0	6307	0	ATRX	23	76939469	Frame_Shift_Del	DEL	TC	TCGA-E1-A7Z6-01A-11D-A34J-08	5589012	76939469	78331091	23	24206											
MORC4	79710	broad.mit.edu	37	X	106229295	106229295	+	Silent	SNP	A	A	G			TCGA-E1-A7Z6-01A-11D-A34J-08	TCGA-E1-A7Z6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97b400be-5f0e-4a7b-85d0-5eb0c777f114	8283b058-d6c7-4250-b9b5-bf996e71f287	g.chrX:106229295A>G	ENST00000355610.4	-	4	718	c.444T>C	c.(442-444)gtT>gtC	p.V148V	MORC4_ENST00000255495.7_Silent_p.V148V|MORC4_ENST00000535534.1_Intron	NM_001085354.2|NM_024657.4	NP_001078823.1|NP_078933.3	Q8TE76	MORC4_HUMAN	MORC family CW-type zinc finger 4	148							ATP binding|zinc ion binding			endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	28						ATAGAAGTCCAACAGTGAGAG	0.473													81	113					0	0	1	0	0	G	106229295	A	G	106229295	2	3	182	1	0	0	0	0	0	0	0	1	9753	117	5	3		3	MORC4	23	106229295	Silent	SNP	A	TCGA-E1-A7Z6-01A-11D-A34J-08	29289826	106229295	49041265	24	24207											
COL4A5	1287	broad.mit.edu	37	X	107938635	107938635	+	Missense_Mutation	SNP	T	T	C			TCGA-E1-A7Z6-01A-11D-A34J-08	TCGA-E1-A7Z6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97b400be-5f0e-4a7b-85d0-5eb0c777f114	8283b058-d6c7-4250-b9b5-bf996e71f287	g.chrX:107938635T>C	ENST00000328300.6	+	52	5204	c.4960T>C	c.(4960-4962)Tgg>Cgg	p.W1654R	COL4A5_ENST00000361603.2_Missense_Mutation_p.W1648R	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	1648	Collagen IV NC1.		Missing (in APSX).		axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						CTACAGCTTTTGGCTGGCAAC	0.473									Alport syndrome with Diffuse Leiomyomatosis				7	115					0	0	1	0	0	C	107938635	T	C	107938635	3	2	182	1	0	0	0	0	1	0	0	0	3717	1812	63	3	5151	3	COL4A5	23	107938635	Missense_Mutation	SNP	T	TCGA-E1-A7Z6-01A-11D-A34J-08	1709340	107938635	47331925	25	24208											
ZCCHC16	340595	broad.mit.edu	37	X	111698669	111698669	+	Missense_Mutation	SNP	T	T	C			TCGA-E1-A7Z6-01A-11D-A34J-08	TCGA-E1-A7Z6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97b400be-5f0e-4a7b-85d0-5eb0c777f114	8283b058-d6c7-4250-b9b5-bf996e71f287	g.chrX:111698669T>C	ENST00000340433.2	+	1	943	c.713T>C	c.(712-714)tTg>tCg	p.L238S		NM_001004308.2	NP_001004308.2	Q6ZR62	ZCH16_HUMAN	zinc finger, CCHC domain containing 16	238							nucleic acid binding|zinc ion binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27						TTGGCTTCCTTGATCCAACAC	0.542													112	151					0	0	1	0	0	C	111698669	T	C	111698669	3	2	182	1	0	0	0	0	1	0	0	0	17643	1821	63	3	715	3	ZCCHC16	23	111698669	Missense_Mutation	SNP	T	TCGA-E1-A7Z6-01A-11D-A34J-08	3760034	111698669	43571891	26	24209											
SLC25A5	292	broad.mit.edu	37	X	118603879	118603879	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7Z6-01A-11D-A34J-08	TCGA-E1-A7Z6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97b400be-5f0e-4a7b-85d0-5eb0c777f114	8283b058-d6c7-4250-b9b5-bf996e71f287	g.chrX:118603879G>A	ENST00000317881.8	+	2	483	c.367G>A	c.(367-369)Gca>Aca	p.A123T	SLC25A5_ENST00000460013.1_3'UTR	NM_001152.4	NP_001143.2	P05141	ADT2_HUMAN	solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 5	123					chromosome segregation|energy reserve metabolic process|interspecies interaction between organisms|regulation of insulin secretion|viral reproduction	integral to plasma membrane|mitochondrial inner membrane|mitochondrial nucleoid|MMXD complex	adenine transmembrane transporter activity|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|stomach(2)	12					Clodronate(DB00720)	GGGTGGTGCCGCAGGGGCCAC	0.527													4	151					0	0	1	0	0	A	118603879	G	A	118603879	3	1	182	1	0	0	0	0	1	0	0	0	14567	1087	38	1	373	1	SLC25A5	23	118603879	Missense_Mutation	SNP	G	TCGA-E1-A7Z6-01A-11D-A34J-08	6905210	118603879	36666681	27	24210											
YIPF1	54432	broad.mit.edu	37	1	54354658	54354658	+	Splice_Site	SNP	T	T	G	rs2294508	by1000genomes	TCGA-EZ-7264-01A-11D-2024-08	TCGA-EZ-7264-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00493087-9d9d-40ca-86d5-936f1b951c93	d5dfac45-4aff-481d-9117-807ed47b7b10	g.chr1:54354658T>G	ENST00000539954.1	-	2	185	c.28A>C	c.(28-30)Acc>Ccc	p.T10P	YIPF1_ENST00000072644.1_5'UTR|YIPF1_ENST00000469457.1_5'UTR|YIPF1_ENST00000371399.1_Intron			Q9Y548	YIPF1_HUMAN	Yip1 domain family, member 1	0						integral to membrane|transport vesicle				endometrium(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|skin(1)|urinary_tract(2)	19						ATTTGCAGGGTTCTAAAAGAA	0.398													3	30					0	0	1	0	0	G	54354658	T	G	54354658	5	3	183	1	0	0	0	0	0	0	1	0	17537	1739	60	5		5	YIPF1	1	54354658	Splice_Site	SNP	T	TCGA-EZ-7264-01A-11D-2024-08		54354658	194895963	1	24211											
FUBP1	8880	broad.mit.edu	37	1	78425869	78425869	+	Splice_Site	SNP	C	C	G			TCGA-EZ-7264-01A-11D-2024-08	TCGA-EZ-7264-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00493087-9d9d-40ca-86d5-936f1b951c93	d5dfac45-4aff-481d-9117-807ed47b7b10	g.chr1:78425869C>G	ENST00000370767.1	-	16	1663	c.1576G>C	c.(1576-1578)Gct>Cct	p.A526P	FUBP1_ENST00000370768.2_Splice_Site_p.A526P|FUBP1_ENST00000436586.2_Splice_Site_p.A547P			Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1	526	Pro-rich.				transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						CATCTTCTACCTGGATCAGGA	0.413			"F, N"		oligodendroglioma								14	14					0	0	1	0	0	G	78425869	C	G	78425869	5	3	183	1	0	0	0	0	0	0	1	0	6127	695	24	4	378	4	FUBP1	1	78425869	Splice_Site	SNP	C	TCGA-EZ-7264-01A-11D-2024-08	24071211	78425869	170824752	2	24212											
APOB	338	broad.mit.edu	37	2	21234703	21234703	+	Silent	SNP	C	C	T			TCGA-EZ-7264-01A-11D-2024-08	TCGA-EZ-7264-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00493087-9d9d-40ca-86d5-936f1b951c93	d5dfac45-4aff-481d-9117-807ed47b7b10	g.chr2:21234703C>T	ENST00000233242.1	-	26	5164	c.5037G>A	c.(5035-5037)ggG>ggA	p.G1679G		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	1679					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TCATAGATGCCCCAGAGAGGC	0.493													30	64					0	0	1	0	0	T	21234703	C	T	21234703	2	4	183	1	0	0	0	0	0	0	0	1	782	610	22	2		2	APOB	2	21234703	Silent	SNP	C	TCGA-EZ-7264-01A-11D-2024-08		21234703	221964670	3	24213											
OTOF	9381	broad.mit.edu	37	2	26696893	26696893	+	Missense_Mutation	SNP	C	C	G			TCGA-EZ-7264-01A-11D-2024-08	TCGA-EZ-7264-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00493087-9d9d-40ca-86d5-936f1b951c93	d5dfac45-4aff-481d-9117-807ed47b7b10	g.chr2:26696893C>G	ENST00000272371.2	-	27	3500	c.3374G>C	c.(3373-3375)gGc>gCc	p.G1125A	OTOF_ENST00000339598.3_Missense_Mutation_p.G378A|OTOF_ENST00000338581.6_Missense_Mutation_p.G378A|OTOF_ENST00000403946.3_Missense_Mutation_p.G1125A|OTOF_ENST00000402415.3_Missense_Mutation_p.G435A	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	1125					cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGGCCGGATGCCCATGGGCAC	0.647													20	38					0	0	1	0	0	G	26696893	C	G	26696893	3	3	183	1	0	0	0	0	1	0	0	0	11350	739	26	5	2884	5	OTOF	2	26696893	Missense_Mutation	SNP	C	TCGA-EZ-7264-01A-11D-2024-08	5462190	26696893	216502480	4	24214											
ARHGEF4	50649	broad.mit.edu	37	2	131802995	131802995	+	Missense_Mutation	SNP	C	C	A			TCGA-EZ-7264-01A-11D-2024-08	TCGA-EZ-7264-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00493087-9d9d-40ca-86d5-936f1b951c93	d5dfac45-4aff-481d-9117-807ed47b7b10	g.chr2:131802995C>A	ENST00000392953.3	+	13	2416	c.1897C>A	c.(1897-1899)Cag>Aag	p.Q633K	ARHGEF4_ENST00000525839.1_Missense_Mutation_p.Q633K|ARHGEF4_ENST00000409303.1_Missense_Mutation_p.Q573K|ARHGEF4_ENST00000428230.2_Intron|ARHGEF4_ENST00000355771.3_Missense_Mutation_p.Q562K|ARHGEF4_ENST00000326016.5_Missense_Mutation_p.Q633K	NM_032995.1	NP_127462.1	Q9NR80	ARHG4_HUMAN	Rho guanine nucleotide exchange factor (GEF) 4	633					apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|lamellipodium assembly|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|ruffle membrane	protein domain specific binding|Rac guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(4)	29		Prostate(154;0.055)		BRCA - Breast invasive adenocarcinoma(221;0.097)		TGCCAGCAAGCAGCAGGTCAC	0.617													19	39					1.01871e-10	1.07984e-10	1	1	0	A	131802995	C	A	131802995	3	1	183	1	0	0	0	0	1	0	0	0	905	711	25	5	1939	5	ARHGEF4	2	131802995	Missense_Mutation	SNP	C	TCGA-EZ-7264-01A-11D-2024-08	105106102	131802995	111396378	5	24215											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-EZ-7264-01A-11D-2024-08	TCGA-EZ-7264-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00493087-9d9d-40ca-86d5-936f1b951c93	d5dfac45-4aff-481d-9117-807ed47b7b10	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								27	42					0	0	1	0	0	T	209113112	C	T	209113112	3	4	183	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-EZ-7264-01A-11D-2024-08	77310117	209113112	34086261	6	24216											
CPS1	1373	broad.mit.edu	37	2	211471549	211471549	+	Silent	SNP	C	C	T			TCGA-EZ-7264-01A-11D-2024-08	TCGA-EZ-7264-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00493087-9d9d-40ca-86d5-936f1b951c93	d5dfac45-4aff-481d-9117-807ed47b7b10	g.chr2:211471549C>T	ENST00000233072.5	+	18	2272	c.2076C>T	c.(2074-2076)ggC>ggT	p.G692G	CPS1_ENST00000430249.2_Silent_p.G698G|CPS1_ENST00000451903.2_Silent_p.G241G	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	692	ATP-grasp 1.				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		GCCACTTGGGCATTGTGGGTG	0.478													37	33					0	0	1	0	0	T	211471549	C	T	211471549	2	4	183	1	0	0	0	0	0	0	0	1	3846	697	25	2		2	CPS1	2	211471549	Silent	SNP	C	TCGA-EZ-7264-01A-11D-2024-08	2358437	211471549	31727824	7	24217											
CCDC108	255101	broad.mit.edu	37	2	219900291	219900291	+	Silent	SNP	C	C	T			TCGA-EZ-7264-01A-11D-2024-08	TCGA-EZ-7264-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00493087-9d9d-40ca-86d5-936f1b951c93	d5dfac45-4aff-481d-9117-807ed47b7b10	g.chr2:219900291C>T	ENST00000341552.5	-	5	536	c.453G>A	c.(451-453)ctG>ctA	p.L151L	CCDC108_ENST00000324264.6_Silent_p.L86L|CCDC108_ENST00000295729.2_Silent_p.L86L|CCDC108_ENST00000410037.1_Silent_p.L86L|CCDC108_ENST00000453220.1_Silent_p.L151L|CCDC108_ENST00000441968.1_Silent_p.L151L|CCDC108_ENST00000409865.3_Silent_p.L140L	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	151						integral to membrane	structural molecule activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CTTTCCAATGCAGCTCCTCAG	0.502													55	71					0	0	1	0	0	T	219900291	C	T	219900291	2	4	183	1	0	0	0	0	0	0	0	1	2761	697	25	2		2	CCDC108	2	219900291	Silent	SNP	C	TCGA-EZ-7264-01A-11D-2024-08	8428742	219900291	23299082	8	24218											
ADAMTS9	56999	broad.mit.edu	37	3	64607885	64607885	+	Missense_Mutation	SNP	T	T	C			TCGA-EZ-7264-01A-11D-2024-08	TCGA-EZ-7264-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00493087-9d9d-40ca-86d5-936f1b951c93	d5dfac45-4aff-481d-9117-807ed47b7b10	g.chr3:64607885T>C	ENST00000498707.1	-	18	3017	c.2675A>G	c.(2674-2676)aAa>aGa	p.K892R	ADAMTS9_ENST00000295903.4_Missense_Mutation_p.K864R	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	892	TSP type-1 2.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		TTGGCAGGGTTTACTGCATGC	0.363													28	21					0	0	1	0	0	C	64607885	T	C	64607885	3	2	183	1	0	0	0	0	1	0	0	0	272	1841	64	3	3220	3	ADAMTS9	3	64607885	Missense_Mutation	SNP	T	TCGA-EZ-7264-01A-11D-2024-08		64607885	133414545	9	24219											
HK3	3101	broad.mit.edu	37	5	176310845	176310845	+	Missense_Mutation	SNP	A	A	G			TCGA-EZ-7264-01A-11D-2024-08	TCGA-EZ-7264-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00493087-9d9d-40ca-86d5-936f1b951c93	d5dfac45-4aff-481d-9117-807ed47b7b10	g.chr5:176310845A>G	ENST00000292432.5	-	15	2070	c.1979T>C	c.(1978-1980)aTt>aCt	p.I660T		NM_002115.2	NP_002106.2	P52790	HXK3_HUMAN	hexokinase 3 (white cell)	660	Catalytic.				glucose transport|glycolysis|transmembrane transport	cytosol|membrane	ATP binding|glucokinase activity			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GTCATTGACAATGGCAACCAC	0.582													11	86					0	0	1	0	0	G	176310845	A	G	176310845	3	3	183	1	0	0	0	0	1	0	0	0	7233	101	4	3	812	3	HK3	5	176310845	Missense_Mutation	SNP	A	TCGA-EZ-7264-01A-11D-2024-08		176310845	4604415	10	24220											
ATXN1	6310	broad.mit.edu	37	6	16327718	16327718	+	Missense_Mutation	SNP	G	G	A			TCGA-EZ-7264-01A-11D-2024-08	TCGA-EZ-7264-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00493087-9d9d-40ca-86d5-936f1b951c93	d5dfac45-4aff-481d-9117-807ed47b7b10	g.chr6:16327718G>A	ENST00000244769.4	-	8	1760	c.824C>T	c.(823-825)aCg>aTg	p.T275M	ATXN1_ENST00000436367.1_Missense_Mutation_p.T275M	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN	ataxin 1	275					cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing	cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm	identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				TGGGATCATCGTCTGGTGGGG	0.652													9	17					0	0	1	0	0	A	16327718	G	A	16327718	3	1	183	1	0	0	0	0	1	0	0	0	1207	1145	40	1	1631	1	ATXN1	6	16327718	Missense_Mutation	SNP	G	TCGA-EZ-7264-01A-11D-2024-08		16327718	154787349	11	24221											
SLC35B2	347734	broad.mit.edu	37	6	44224548	44224548	+	Missense_Mutation	SNP	G	G	C			TCGA-EZ-7264-01A-11D-2024-08	TCGA-EZ-7264-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00493087-9d9d-40ca-86d5-936f1b951c93	d5dfac45-4aff-481d-9117-807ed47b7b10	g.chr6:44224548G>C	ENST00000393812.3	-	2	222	c.79C>G	c.(79-81)Cct>Gct	p.P27A	SLC35B2_ENST00000538577.1_5'UTR|SLC35B2_ENST00000537814.1_Intron|SLC35B2_ENST00000495706.1_Intron|SLC35B2_ENST00000393810.1_Missense_Mutation_p.P27A	NM_178148.2	NP_835361.1	Q8TB61	S35B2_HUMAN	solute carrier family 35 (adenosine 3'-phospho 5'-phosphosulfate transporter), member B2	27					positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate transmembrane transporter activity|signal transducer activity			breast(1)|central_nervous_system(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	15	all_cancers(18;2e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			GACTCCGGAGGGGCTTCGGGA	0.582													6	72					0	0	1	0	0	C	44224548	G	C	44224548	3	2	183	1	0	0	0	0	1	0	0	0	14631	1232	43	5	1231	5	SLC35B2	6	44224548	Missense_Mutation	SNP	G	TCGA-EZ-7264-01A-11D-2024-08	27896830	44224548	126890519	12	24222											
THEMIS	387357	broad.mit.edu	37	6	128134187	128134187	+	Silent	SNP	T	T	C			TCGA-EZ-7264-01A-11D-2024-08	TCGA-EZ-7264-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00493087-9d9d-40ca-86d5-936f1b951c93	d5dfac45-4aff-481d-9117-807ed47b7b10	g.chr6:128134187T>C	ENST00000368250.1	-	5	1860	c.1362A>G	c.(1360-1362)gaA>gaG	p.E454E	THEMIS_ENST00000537166.1_Silent_p.E498E|THEMIS_ENST00000543064.1_Silent_p.E533E|THEMIS_ENST00000368248.2_Silent_p.E533E			Q8N1K5	THMS1_HUMAN	thymocyte selection associated	533	CABIT 2.				negative T cell selection|positive T cell selection|T cell receptor signaling pathway	cytoplasm|nucleus				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						CAGTGATCTCTTCTACCAGAG	0.468													45	58					0	0	1	0	0	C	128134187	T	C	128134187	2	2	183	1	0	0	0	0	0	0	0	1	15920	1606	56	3		3	THEMIS	6	128134187	Silent	SNP	T	TCGA-EZ-7264-01A-11D-2024-08	83909639	128134187	42980880	13	24223											
EPPK1	83481	broad.mit.edu	37	8	144945118	144945118	+	Missense_Mutation	SNP	G	G	T			TCGA-EZ-7264-01A-11D-2024-08	TCGA-EZ-7264-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00493087-9d9d-40ca-86d5-936f1b951c93	d5dfac45-4aff-481d-9117-807ed47b7b10	g.chr8:144945118G>T	ENST00000525985.1	-	2	2375	c.2304C>A	c.(2302-2304)ttC>ttA	p.F768L				P58107	EPIPL_HUMAN	epiplakin 1	768						cytoplasm|cytoskeleton	protein binding|structural molecule activity	p.F768F(1)		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)			TGTTGGGGTCGAAGAAGCCCT	0.632													5	102					1.23904e-05	1.26287e-05	1	1	0	T	144945118	G	T	144945118	3	4	183	1	0	0	0	0	1	0	0	0	5218	1049	37	5	4962	5	EPPK1	8	144945118	Missense_Mutation	SNP	G	TCGA-EZ-7264-01A-11D-2024-08		144945118	1418904	14	24224											
ZNF883	169834	broad.mit.edu	37	9	115760587	115760587	+	RNA	SNP	G	G	A	rs7036363	by1000genomes	TCGA-EZ-7264-01A-11D-2024-08	TCGA-EZ-7264-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00493087-9d9d-40ca-86d5-936f1b951c93	d5dfac45-4aff-481d-9117-807ed47b7b10	g.chr9:115760587G>A	ENST00000427548.1	-	0	1226							P0CG24	ZN883_HUMAN	zinc finger protein 883						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding										CATTTTTGTCGGTATGTAATA	0.289													3	24					0	0	1	0	0	A	115760587	G	A	115760587	1	1	183	0	1	0	0	0	0	0	0	0	18241	1131	39	1		1	ZNF883	9	115760587	RNA	SNP	G	TCGA-EZ-7264-01A-11D-2024-08		115760587	25452844	15	24225											
STOM	2040	broad.mit.edu	37	9	124111437	124111437	+	Missense_Mutation	SNP	C	C	A			TCGA-EZ-7264-01A-11D-2024-08	TCGA-EZ-7264-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00493087-9d9d-40ca-86d5-936f1b951c93	d5dfac45-4aff-481d-9117-807ed47b7b10	g.chr9:124111437C>A	ENST00000286713.2	-	5	503	c.486G>T	c.(484-486)caG>caT	p.Q162H	STOM_ENST00000347359.2_Intron|STOM_ENST00000538954.1_Missense_Mutation_p.Q111H	NM_001270526.1|NM_004099.5	NP_001257455.1|NP_004090.4	P27105	STOM_HUMAN	stomatin	162					protein homooligomerization	cytoskeleton|integral to plasma membrane|melanosome|membrane raft	protein binding			endometrium(1)|large_intestine(1)|lung(3)|urinary_tract(1)	6				OV - Ovarian serous cystadenocarcinoma(323;0.00107)|GBM - Glioblastoma multiforme(294;0.0137)		CAGAGAGGATCTGAGAAAGAT	0.478													17	10					5.3912e-06	5.60262e-06	1	1	0	A	124111437	C	A	124111437	3	1	183	1	0	0	0	0	1	0	0	0	15368	912	32	4	392	4	STOM	9	124111437	Missense_Mutation	SNP	C	TCGA-EZ-7264-01A-11D-2024-08	8350850	124111437	17101994	16	24226											
JMJD1C	221037	broad.mit.edu	37	10	64975203	64975203	+	Missense_Mutation	SNP	G	G	A			TCGA-EZ-7264-01A-11D-2024-08	TCGA-EZ-7264-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00493087-9d9d-40ca-86d5-936f1b951c93	d5dfac45-4aff-481d-9117-807ed47b7b10	g.chr10:64975203G>A	ENST00000399262.2	-	7	1053	c.835C>T	c.(835-837)Cgt>Tgt	p.R279C	JMJD1C_ENST00000399251.1_Missense_Mutation_p.R60C|JMJD1C_ENST00000542921.1_Missense_Mutation_p.R97C|JMJD1C_ENST00000402544.1_Missense_Mutation_p.R60C|JMJD1C_ENST00000489372.2_5'UTR	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	279					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					GCTTGGGCACGTGTATAATGG	0.378													59	74					0	0	1	0	0	A	64975203	G	A	64975203	3	1	183	1	0	0	0	0	1	0	0	0	7994	1145	40	1	6867	1	JMJD1C	10	64975203	Missense_Mutation	SNP	G	TCGA-EZ-7264-01A-11D-2024-08		64975203	70559544	17	24227											
PDZD7	79955	broad.mit.edu	37	10	102789858	102789858	+	Missense_Mutation	SNP	G	G	A			TCGA-EZ-7264-01A-11D-2024-08	TCGA-EZ-7264-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00493087-9d9d-40ca-86d5-936f1b951c93	d5dfac45-4aff-481d-9117-807ed47b7b10	g.chr10:102789858G>A	ENST00000370215.3	-	2	344	c.119C>T	c.(118-120)aCg>aTg	p.T40M	PDZD7_ENST00000470414.1_Missense_Mutation_p.T40M	NM_024895.4	NP_079171.1	Q9H5P4	PDZD7_HUMAN	PDZ domain containing 7	40						cilium|nucleus	protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22				Epithelial(162;6.98e-09)|all cancers(201;3.55e-07)		CAGGTATCGCGTTGCGGTGGA	0.657													35	30					0	0	1	0	0	A	102789858	G	A	102789858	3	1	183	1	0	0	0	0	1	0	0	0	11751	1145	40	1	1470	1	PDZD7	10	102789858	Missense_Mutation	SNP	G	TCGA-EZ-7264-01A-11D-2024-08	37814655	102789858	32744889	18	24228											
OR8K3	219473	broad.mit.edu	37	11	56086683	56086683	+	Nonsense_Mutation	SNP	C	C	T	rs141093095		TCGA-EZ-7264-01A-11D-2024-08	TCGA-EZ-7264-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00493087-9d9d-40ca-86d5-936f1b951c93	d5dfac45-4aff-481d-9117-807ed47b7b10	g.chr11:56086683C>T	ENST00000312711.1	+	1	901	c.901C>T	c.(901-903)Cga>Tga	p.R301*		NM_001005202.1	NP_001005202.1	Q8NH51	OR8K3_HUMAN	olfactory receptor, family 8, subfamily K, member 3	301					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R301*(1)		central_nervous_system(2)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|ovary(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	40	Esophageal squamous(21;0.00448)					ATATGCCCTACGAAGGACATG	0.323													3	33					0	0	1	0	0	T	56086683	C	T	56086683	4	4	183	1	0	0	0	0	0	1	0	0	11291	528	19	1	903	1	OR8K3	11	56086683	Nonsense_Mutation	SNP	C	TCGA-EZ-7264-01A-11D-2024-08		56086683	78919833	19	24229											
PDZD3	79849	broad.mit.edu	37	11	119058335	119058335	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EZ-7264-01A-11D-2024-08	TCGA-EZ-7264-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00493087-9d9d-40ca-86d5-936f1b951c93	d5dfac45-4aff-481d-9117-807ed47b7b10	g.chr11:119058335delC	ENST00000531114.1	+	4	1330	c.781delC	c.(781-783)cccfs	p.P262fs	PDZD3_ENST00000392817.2_Frame_Shift_Del_p.P262fs|PDZD3_ENST00000322712.4_Frame_Shift_Del_p.P196fs|PDZD3_ENST00000525131.1_Frame_Shift_Del_p.P183fs|PDZD3_ENST00000355547.5_Frame_Shift_Del_p.P196fs			Q86UT5	NHRF4_HUMAN	PDZ domain containing 3	262	PDZ 2.				cGMP-mediated signaling|ion transport|negative regulation of cGMP biosynthetic process|response to toxin|water transport	apical part of cell|brush border|cytosol|membrane fraction|subapical complex	guanylate cyclase inhibitor activity|ion channel inhibitor activity|protein C-terminus binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)	14	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;7.52e-05)		GGCAGGGGTGCCCCCCGGGGC	0.552													3	5	---	---	---	---						-	119058335	C	-	119058335	7	5	183	1	0	1	0	1	0	0	0	0	11749	739	26	0	605	0	PDZD3	11	119058335	Frame_Shift_Del	DEL	C	TCGA-EZ-7264-01A-11D-2024-08	62971652	119058335	15948181	20	24230											
DPY19L2	283417	broad.mit.edu	37	12	63994085	63994085	+	Splice_Site	SNP	C	C	T			TCGA-EZ-7264-01A-11D-2024-08	TCGA-EZ-7264-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00493087-9d9d-40ca-86d5-936f1b951c93	d5dfac45-4aff-481d-9117-807ed47b7b10	g.chr12:63994085C>T	ENST00000324472.4	-	13	1543		c.e13+1			NM_173812.4	NP_776173.3	Q6NUT2	D19L2_HUMAN	dpy-19-like 2 (C. elegans)						multicellular organismal development|spermatid development	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45			GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)		AAAGTACTTACGTGGTCTGAA	0.308													25	39					0	0	1	0	0	T	63994085	C	T	63994085	5	4	183	1	0	0	0	0	0	0	1	0	4767	550	19	1	956	1	DPY19L2	12	63994085	Splice_Site	SNP	C	TCGA-EZ-7264-01A-11D-2024-08		63994085	69857810	21	24231											
PRMT5	10419	broad.mit.edu	37	14	23390166	23390166	+	Missense_Mutation	SNP	C	C	T			TCGA-EZ-7264-01A-11D-2024-08	TCGA-EZ-7264-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00493087-9d9d-40ca-86d5-936f1b951c93	d5dfac45-4aff-481d-9117-807ed47b7b10	g.chr14:23390166C>T	ENST00000324366.8	-	17	2084	c.1861G>A	c.(1861-1863)Gtc>Atc	p.V621I	PRMT5-AS1_ENST00000457443.2_RNA|PRMT5_ENST00000538452.1_Missense_Mutation_p.V515I|PRMT5-AS1_ENST00000609885.1_RNA|PRMT5-AS1_ENST00000599580.2_RNA|PRMT5_ENST00000553897.1_Missense_Mutation_p.V577I|PRMT5-AS1_ENST00000424245.2_RNA|PRMT5_ENST00000397440.4_Missense_Mutation_p.V450I|PRMT5_ENST00000216350.8_Missense_Mutation_p.V560I|PRMT5_ENST00000397441.2_Missense_Mutation_p.V604I	NM_006109.3	NP_006100.2	O14744	ANM5_HUMAN	protein arginine methyltransferase 5	621					cell proliferation|histone H4-R3 methylation|ncRNA metabolic process|regulation of mitosis|spliceosomal snRNP assembly|transcription, DNA-dependent	cytosol|nucleus	histone-arginine N-methyltransferase activity|protein binding|protein-arginine omega-N symmetric methyltransferase activity|ribonucleoprotein binding			endometrium(4)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	25	all_cancers(95;2.76e-05)			GBM - Glioblastoma multiforme(265;0.0126)		GCAGAACAGACTGGTGCTGTC	0.542													15	31					0	0	1	0	0	T	23390166	C	T	23390166	3	4	183	1	0	0	0	0	1	0	0	0	12591	565	20	2	56	2	PRMT5	14	23390166	Missense_Mutation	SNP	C	TCGA-EZ-7264-01A-11D-2024-08		23390166	83959374	22	24232											
FUS	2521	broad.mit.edu	37	16	31200459	31200461	+	In_Frame_Del	DEL	ACA	ACA	-			TCGA-EZ-7264-01A-11D-2024-08	TCGA-EZ-7264-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00493087-9d9d-40ca-86d5-936f1b951c93	d5dfac45-4aff-481d-9117-807ed47b7b10	g.chr16:31200459_31200461delACA	ENST00000254108.7	+	9	953_955	c.848_850delACA	c.(847-852)gacaac>gac	p.N285del	FUS_ENST00000380244.3_In_Frame_Del_p.N284del|FUS_ENST00000474990.1_3'UTR|FUS_ENST00000568685.1_In_Frame_Del_p.N286del	NM_001170634.1|NM_001170937.1|NM_004960.3	NP_001164105.1|NP_001164408.1|NP_004951.1	P35637	FUS_HUMAN	fused in sarcoma	285	RRM.				cell death|nuclear mRNA splicing, via spliceosome	nucleoplasm	DNA binding|nucleotide binding|protein binding|RNA binding|zinc ion binding		FUS/ERG(167)|FUS/DDIT3(631)|FUS/FEV(2)|FUS/ATF1(4)|FUS/CREB3L1(6)|FUS/CREB3L2(158)	breast(3)|endometrium(5)|kidney(3)|large_intestine(1)|lung(5)|prostate(3)|skin(1)|urinary_tract(1)	22		Renal(780;0.000219)|Breast(268;0.00957)|Hepatocellular(780;0.121)		GBM - Glioblastoma multiforme(240;2.31e-05)|Kidney(780;0.000209)		GATAATTCAGACAACAACACCAT	0.374			T	"DDIT3, ERG, FEV, ATF1, CREB3L2, CREB3L1"	"liposarcoma, AML, Ewing sarcoma, angiomatoid fibrous histiocytoma, fibromyxoid sarcoma"								46	185	---	---	---	---						-	31200461	ACA	-	31200459	7	5	183	1	0	1	0	1	0	0	0	0	6135	275	10	0	882	0	FUS	16	31200459	In_Frame_Del	DEL	ACA	TCGA-EZ-7264-01A-11D-2024-08		31200459	59154294	23	24233											
FAM64A	54478	broad.mit.edu	37	17	6348641	6348641	+	Missense_Mutation	SNP	C	C	T	rs11538170		TCGA-EZ-7264-01A-11D-2024-08	TCGA-EZ-7264-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00493087-9d9d-40ca-86d5-936f1b951c93	d5dfac45-4aff-481d-9117-807ed47b7b10	g.chr17:6348641C>T	ENST00000572447.1	+	2	320	c.211C>T	c.(211-213)Cgc>Tgc	p.R71C	FAM64A_ENST00000571373.1_Missense_Mutation_p.R71C|FAM64A_ENST00000572595.2_Missense_Mutation_p.R71C|FAM64A_ENST00000576056.1_Missense_Mutation_p.R71C|FAM64A_ENST00000570337.2_Missense_Mutation_p.R71C|FAM64A_ENST00000250056.8_Missense_Mutation_p.R71C	NM_019013.2	NP_061886.2	Q9BSJ6	FA64A_HUMAN	family with sequence similarity 64, member A	71						nucleolus	protein binding			breast(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7				COAD - Colon adenocarcinoma(228;0.141)		CTCCTGGAAACGCCTGGAAAC	0.627													20	44					0	0	1	0	0	T	6348641	C	T	6348641	3	4	183	1	0	0	0	0	1	0	0	0	5633	536	19	1	213	1	FAM64A	17	6348641	Missense_Mutation	SNP	C	TCGA-EZ-7264-01A-11D-2024-08		6348641	74846569	24	24234											
MYO15A	51168	broad.mit.edu	37	17	18052562	18052562	+	Missense_Mutation	SNP	A	A	G			TCGA-EZ-7264-01A-11D-2024-08	TCGA-EZ-7264-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00493087-9d9d-40ca-86d5-936f1b951c93	d5dfac45-4aff-481d-9117-807ed47b7b10	g.chr17:18052562A>G	ENST00000205890.5	+	34	7327	c.6989A>G	c.(6988-6990)gAc>gGc	p.D2330G		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	2330	Tail.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					TCGGATGAGGACATGTCCACT	0.527													10	14					0	0	1	0	0	G	18052562	A	G	18052562	3	3	183	1	0	0	0	0	1	0	0	0	10111	275	10	3	7115	3	MYO15A	17	18052562	Missense_Mutation	SNP	A	TCGA-EZ-7264-01A-11D-2024-08	11703921	18052562	63142648	25	24235											
SLFN12	55106	broad.mit.edu	37	17	33738552	33738552	+	Silent	SNP	C	C	T	rs150878441		TCGA-EZ-7264-01A-11D-2024-08	TCGA-EZ-7264-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00493087-9d9d-40ca-86d5-936f1b951c93	d5dfac45-4aff-481d-9117-807ed47b7b10	g.chr17:33738552C>T	ENST00000394562.1	-	6	2065	c.1542G>A	c.(1540-1542)tcG>tcA	p.S514S	SLFN12_ENST00000304905.5_Silent_p.S514S|SLFN12_ENST00000452764.3_Silent_p.S514S|SLFN12_ENST00000460530.1_5'UTR			Q8IYM2	SLN12_HUMAN	schlafen family member 12	514							ATP binding			breast(1)|kidney(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		AAATTACTTGCGACCTTAAAT	0.393													23	44					0	0	1	0	0	T	33738552	C	T	33738552	2	4	183	1	0	0	0	0	0	0	0	1	14789	755	27	1		1	SLFN12	17	33738552	Silent	SNP	C	TCGA-EZ-7264-01A-11D-2024-08	15685990	33738552	47456658	26	24236											
DNAH17	8632	broad.mit.edu	37	17	76456336	76456336	+	Missense_Mutation	SNP	C	C	T			TCGA-EZ-7264-01A-11D-2024-08	TCGA-EZ-7264-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00493087-9d9d-40ca-86d5-936f1b951c93	d5dfac45-4aff-481d-9117-807ed47b7b10	g.chr17:76456336C>T	ENST00000389840.5	-	59	9425	c.9301G>A	c.(9301-9303)Gtc>Atc	p.V3101I	DNAH17_ENST00000586052.1_5'UTR|DNAH17_ENST00000585328.1_Missense_Mutation_p.V3110I					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			TTCTCAGTGACGTTCTGGAAG	0.562													6	5					0	0	1	0	0	T	76456336	C	T	76456336	3	4	183	1	0	0	0	0	1	0	0	0	4629	536	19	1	4137	1	DNAH17	17	76456336	Missense_Mutation	SNP	C	TCGA-EZ-7264-01A-11D-2024-08	42717784	76456336	4738874	27	24237											
LAMA1	284217	broad.mit.edu	37	18	6999522	6999522	+	Missense_Mutation	SNP	C	C	T	rs146559010		TCGA-EZ-7264-01A-11D-2024-08	TCGA-EZ-7264-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00493087-9d9d-40ca-86d5-936f1b951c93	d5dfac45-4aff-481d-9117-807ed47b7b10	g.chr18:6999522C>T	ENST00000389658.3	-	32	4678	c.4585G>A	c.(4585-4587)Gtt>Att	p.V1529I		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	1529	Laminin EGF-like 17.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AGCCTGCAAACGCACTGCCCA	0.557													3	30					0	0	1	0	0	T	6999522	C	T	6999522	3	4	183	1	0	0	0	0	1	0	0	0	8644	536	19	1	4770	1	LAMA1	18	6999522	Missense_Mutation	SNP	C	TCGA-EZ-7264-01A-11D-2024-08		6999522	71077726	28	24238											
QTRT1	81890	broad.mit.edu	37	19	10812925	10812925	+	Missense_Mutation	SNP	C	C	T			TCGA-EZ-7264-01A-11D-2024-08	TCGA-EZ-7264-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00493087-9d9d-40ca-86d5-936f1b951c93	d5dfac45-4aff-481d-9117-807ed47b7b10	g.chr19:10812925C>T	ENST00000250237.5	+	3	456	c.446C>T	c.(445-447)gCg>gTg	p.A149V	QTRT1_ENST00000585885.1_3'UTR	NM_031209.2	NP_112486.1	Q9BXR0	TGT_HUMAN	queuine tRNA-ribosyltransferase 1	149					queuosine biosynthetic process	mitochondrion|nucleus|ribosome	metal ion binding|queuine tRNA-ribosyltransferase activity			large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	12			Epithelial(33;1.55e-05)|all cancers(31;3.42e-05)			ATCCAGAATGCGCTGGGTGAG	0.607													3	38					0	0	1	0	0	T	10812925	C	T	10812925	3	4	183	1	0	0	0	0	1	0	0	0	12937	768	27	1	456	1	QTRT1	19	10812925	Missense_Mutation	SNP	C	TCGA-EZ-7264-01A-11D-2024-08		10812925	48316058	29	24239											
KLHL26	55295	broad.mit.edu	37	19	18779269	18779269	+	Silent	SNP	G	G	A			TCGA-EZ-7264-01A-11D-2024-08	TCGA-EZ-7264-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00493087-9d9d-40ca-86d5-936f1b951c93	d5dfac45-4aff-481d-9117-807ed47b7b10	g.chr19:18779269G>A	ENST00000300976.4	+	3	1152	c.1062G>A	c.(1060-1062)acG>acA	p.T354T	KLHL26_ENST00000599006.1_Intron	NM_018316.1	NP_060786.1	Q53HC5	KLH26_HUMAN	kelch-like family member 26	354										breast(1)|central_nervous_system(1)|kidney(1)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						GCAGCCACACGTGCGTGGCCG	0.677													9	18					0	0	1	0	0	A	18779269	G	A	18779269	2	1	183	1	0	0	0	0	0	0	0	1	8424	1132	40	1		1	KLHL26	19	18779269	Silent	SNP	G	TCGA-EZ-7264-01A-11D-2024-08	7966344	18779269	40349714	30	24240											
ANKRD27	84079	broad.mit.edu	37	19	33096834	33096834	+	Silent	SNP	A	A	G			TCGA-EZ-7264-01A-11D-2024-08	TCGA-EZ-7264-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00493087-9d9d-40ca-86d5-936f1b951c93	d5dfac45-4aff-481d-9117-807ed47b7b10	g.chr19:33096834A>G	ENST00000306065.4	-	24	2558	c.2400T>C	c.(2398-2400)aaT>aaC	p.N800N		NM_032139.2	NP_115515.2	Q96NW4	ANR27_HUMAN	ankyrin repeat domain 27 (VPS9 domain)	800					early endosome to late endosome transport	early endosome|lysosome	GTPase activator activity|guanyl-nucleotide exchange factor activity			breast(3)|endometrium(7)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	42	Esophageal squamous(110;0.137)					TGGGTTTTGCATTCGAATCTA	0.473													15	13					0	0	1	0	0	G	33096834	A	G	33096834	2	3	183	1	0	0	0	0	0	0	0	1	651	214	8	3		3	ANKRD27	19	33096834	Silent	SNP	A	TCGA-EZ-7264-01A-11D-2024-08	14317565	33096834	26032149	31	24241											
CIC	23152	broad.mit.edu	37	19	42798878	42798878	+	Missense_Mutation	SNP	T	T	G			TCGA-EZ-7264-01A-11D-2024-08	TCGA-EZ-7264-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00493087-9d9d-40ca-86d5-936f1b951c93	d5dfac45-4aff-481d-9117-807ed47b7b10	g.chr19:42798878T>G	ENST00000572681.2	+	20	7236	c.7168T>G	c.(7168-7170)Ttc>Gtc	p.F2390V	CIC_ENST00000575354.2_Missense_Mutation_p.F1484V|CIC_ENST00000160740.3_Missense_Mutation_p.F1482V			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	1484					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CCATGGCTTCTTCCCGTCAGG	0.597			"Mis, F, S"		oligodendroglioma								34	12					0	0	1	0	0	G	42798878	T	G	42798878	3	3	183	1	0	0	0	0	1	0	0	0	3446	1609	56	5	4524	5	CIC	19	42798878	Missense_Mutation	SNP	T	TCGA-EZ-7264-01A-11D-2024-08	9702044	42798878	16330105	32	24242											
ZNF347	84671	broad.mit.edu	37	19	53643617	53643617	+	Missense_Mutation	SNP	C	C	T			TCGA-EZ-7264-01A-11D-2024-08	TCGA-EZ-7264-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00493087-9d9d-40ca-86d5-936f1b951c93	d5dfac45-4aff-481d-9117-807ed47b7b10	g.chr19:53643617C>T	ENST00000452676.2	-	5	2893	c.2467G>A	c.(2467-2469)Gtg>Atg	p.V823M	ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000601469.2_Missense_Mutation_p.V823M|ZNF347_ENST00000334197.7_Missense_Mutation_p.V822M	NM_001172674.1	NP_001166145.1	Q96SE7	ZN347_HUMAN	zinc finger protein 347	822					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		ACTTTCCACACGTTACATTTG	0.413													54	29					0	0	1	0	0	T	53643617	C	T	53643617	3	4	183	1	0	0	0	0	1	0	0	0	17918	536	19	1	59	1	ZNF347	19	53643617	Missense_Mutation	SNP	C	TCGA-EZ-7264-01A-11D-2024-08	10844739	53643617	5485366	33	24243											
PCSK2	5126	broad.mit.edu	37	20	17240949	17240949	+	Missense_Mutation	SNP	G	G	A			TCGA-EZ-7264-01A-11D-2024-08	TCGA-EZ-7264-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00493087-9d9d-40ca-86d5-936f1b951c93	d5dfac45-4aff-481d-9117-807ed47b7b10	g.chr20:17240949G>A	ENST00000262545.2	+	2	557	c.242G>A	c.(241-243)cGc>cAc	p.R81H	PCSK2_ENST00000536609.1_Intron|PCSK2_ENST00000377899.1_Missense_Mutation_p.R62H	NM_002594.3	NP_002585.2	P16519	NEC2_HUMAN	proprotein convertase subtilisin/kexin type 2	81					enkephalin processing|insulin processing|islet amyloid polypeptide processing	extracellular space|membrane|soluble fraction|transport vesicle	serine-type endopeptidase activity			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	AAGAGAAGACGCAGCCTACAC	0.532													43	48					0	0	1	0	0	A	17240949	G	A	17240949	3	1	183	1	0	0	0	0	1	0	0	0	11648	1087	38	1	248	1	PCSK2	20	17240949	Missense_Mutation	SNP	G	TCGA-EZ-7264-01A-11D-2024-08		17240949	45784571	34	24244											
BAGE2	85319	broad.mit.edu	37	21	11058309	11058309	+	RNA	SNP	A	A	G			TCGA-EZ-7264-01A-11D-2024-08	TCGA-EZ-7264-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00493087-9d9d-40ca-86d5-936f1b951c93	d5dfac45-4aff-481d-9117-807ed47b7b10	g.chr21:11058309A>G	ENST00000470054.1	-	0	338									B melanoma antigen family, member 2															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)		CAAAGTGCTTACAAAATGCAC	0.393													9	195					0	0	1	0	0	G	11058309	A	G	11058309	1	3	183	0	1	0	0	0	0	0	0	0	1290	391	14	3		3	BAGE2	21	11058309	RNA	SNP	A	TCGA-EZ-7264-01A-11D-2024-08		11058309	37071586	35	24245											
HUWE1	10075	broad.mit.edu	37	X	53618082	53618082	+	Splice_Site	SNP	G	G	C			TCGA-EZ-7264-01A-11D-2024-08	TCGA-EZ-7264-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00493087-9d9d-40ca-86d5-936f1b951c93	d5dfac45-4aff-481d-9117-807ed47b7b10	g.chrX:53618082G>C	ENST00000342160.3	-	33	4430	c.3973C>G	c.(3973-3975)Ctc>Gtc	p.L1325V	HUWE1_ENST00000218328.8_Splice_Site_p.L1325V|HUWE1_ENST00000262854.6_Splice_Site_p.L1325V			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	1325	UBA.				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						ATGTCCATGAGCTACATAAAG	0.433													14	18					0	0	1	0	0	C	53618082	G	C	53618082	5	2	183	1	0	0	0	0	0	0	1	0	7505	985	34	4	9355	4	HUWE1	23	53618082	Splice_Site	SNP	G	TCGA-EZ-7264-01A-11D-2024-08		53618082	101652478	36	24246											
ACRC	93953	broad.mit.edu	37	X	70824013	70824013	+	Missense_Mutation	SNP	G	G	A			TCGA-EZ-7264-01A-11D-2024-08	TCGA-EZ-7264-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00493087-9d9d-40ca-86d5-936f1b951c93	d5dfac45-4aff-481d-9117-807ed47b7b10	g.chrX:70824013G>A	ENST00000373695.1	+	7	1423	c.886G>A	c.(886-888)Gac>Aac	p.D296N	ACRC_ENST00000373696.3_Missense_Mutation_p.D296N			Q96QF7	ACRC_HUMAN	acidic repeat containing	296	Asp/Ser-rich.					nucleus				autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1)	54	Renal(35;0.156)					GGAAGCTTCCGACGACAGCAG	0.527													111	136					0	0	1	0	0	A	70824013	G	A	70824013	3	1	183	1	0	0	0	0	1	0	0	0	171	1058	37	1	912	1	ACRC	23	70824013	Missense_Mutation	SNP	G	TCGA-EZ-7264-01A-11D-2024-08	17205931	70824013	84446547	37	24247											
UPRT	139596	broad.mit.edu	37	X	74519578	74519578	+	Missense_Mutation	SNP	A	A	G			TCGA-EZ-7264-01A-11D-2024-08	TCGA-EZ-7264-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00493087-9d9d-40ca-86d5-936f1b951c93	d5dfac45-4aff-481d-9117-807ed47b7b10	g.chrX:74519578A>G	ENST00000373379.1	+	5	736	c.571A>G	c.(571-573)Atg>Gtg	p.M191V	UPRT_ENST00000530743.1_Missense_Mutation_p.M55V|UPRT_ENST00000373383.4_Missense_Mutation_p.M191V			Q96BW1	UPP_HUMAN	uracil phosphoribosyltransferase (FUR1) homolog (S. cerevisiae)	191					nucleoside metabolic process	cytoplasm|nucleus				breast(1)|endometrium(7)|kidney(2)|large_intestine(4)|lung(4)	18						AGGTGAGGCAATGGAACAAGG	0.383													6	74					0	0	1	0	0	G	74519578	A	G	74519578	3	3	183	1	0	0	0	0	1	0	0	0	17074	101	4	3	589	3	UPRT	23	74519578	Missense_Mutation	SNP	A	TCGA-EZ-7264-01A-11D-2024-08	3695565	74519578	80750982	38	24248											
AMOT	154796	broad.mit.edu	37	X	112058788	112058788	+	Missense_Mutation	SNP	T	T	C			TCGA-EZ-7264-01A-11D-2024-08	TCGA-EZ-7264-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00493087-9d9d-40ca-86d5-936f1b951c93	d5dfac45-4aff-481d-9117-807ed47b7b10	g.chrX:112058788T>C	ENST00000371959.3	-	2	1189	c.1190A>G	c.(1189-1191)cAg>cGg	p.Q397R	AMOT_ENST00000524145.1_Missense_Mutation_p.Q397R|AMOT_ENST00000371958.1_Missense_Mutation_p.Q165R|AMOT_ENST00000371962.1_Missense_Mutation_p.Q165R|AMOT_ENST00000304758.1_5'UTR	NM_001113490.1	NP_001106962.1	Q4VCS5	AMOT_HUMAN	angiomotin	397					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						ctgtggctgctgctgctgctg	0.572													4	48					0	0	1	0	0	C	112058788	T	C	112058788	3	2	183	1	0	0	0	0	1	0	0	0	578	1580	55	3	2104	3	AMOT	23	112058788	Missense_Mutation	SNP	T	TCGA-EZ-7264-01A-11D-2024-08	37539210	112058788	43211772	39	24249											
SNX27	81609	broad.mit.edu	37	1	151641080	151641080	+	Missense_Mutation	SNP	A	A	G	rs149636067		TCGA-F6-A8O3-01A-11D-A36O-08	TCGA-F6-A8O3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9127a4d-9030-4ff4-b605-9cb68fdcc1ea	e475d10e-c3d2-43dc-908b-d35a537c9f10	g.chr1:151641080A>G	ENST00000368843.3	+	7	1238	c.1118A>G	c.(1117-1119)aAt>aGt	p.N373S	SNX27_ENST00000368838.1_Missense_Mutation_p.N280S|SNX27_ENST00000482791.1_3'UTR|SNX27_ENST00000458013.2_Missense_Mutation_p.N373S	NM_030918.5	NP_112180.4	Q96L92	SNX27_HUMAN	sorting nexin family member 27	373					cell communication|protein transport|signal transduction	cytosol|early endosome	phosphatidylinositol binding|protein binding	p.N373S(1)		central_nervous_system(1)|large_intestine(2)|ovary(2)	5	Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			TTAAATGACAATGACCTTGCT	0.363													32	51					0	0	1	0	0	G	151641080	A	G	151641080	3	3	184	1	0	0	0	0	1	0	0	0	14951	101	4	3	1144	3	SNX27	1	151641080	Missense_Mutation	SNP	A	TCGA-F6-A8O3-01A-11D-A36O-08		151641080	97609541	1	24250											
FLG	2312	broad.mit.edu	37	1	152286320	152286320	+	Missense_Mutation	SNP	G	G	A			TCGA-F6-A8O3-01A-11D-A36O-08	TCGA-F6-A8O3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9127a4d-9030-4ff4-b605-9cb68fdcc1ea	e475d10e-c3d2-43dc-908b-d35a537c9f10	g.chr1:152286320G>A	ENST00000368799.1	-	3	1077	c.1042C>T	c.(1042-1044)Cac>Tac	p.H348Y	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	348	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCTGCAGAGTGCCCATGACTG	0.557									Ichthyosis				10	390					0	0	1	0	0	A	152286320	G	A	152286320	3	1	184	1	0	0	0	0	1	0	0	0	5955	1319	46	2	11147	2	FLG	1	152286320	Missense_Mutation	SNP	G	TCGA-F6-A8O3-01A-11D-A36O-08	645240	152286320	96964301	2	24251											
B4GALT3	8703	broad.mit.edu	37	1	161143660	161143660	+	Silent	SNP	C	C	T			TCGA-F6-A8O3-01A-11D-A36O-08	TCGA-F6-A8O3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9127a4d-9030-4ff4-b605-9cb68fdcc1ea	e475d10e-c3d2-43dc-908b-d35a537c9f10	g.chr1:161143660C>T	ENST00000319769.5	-	5	891	c.669G>A	c.(667-669)aaG>aaA	p.K223K	B4GALT3_ENST00000367998.1_Silent_p.K223K|B4GALT3_ENST00000470882.1_5'UTR|PPOX_ENST00000535223.1_Intron|PPOX_ENST00000495483.1_Intron|PPOX_ENST00000432542.2_Intron	NM_001199873.1|NM_003779.3	NP_001186802.1|NP_003770.1	O60512	B4GT3_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 3	223				K -> S (in Ref. 2; AAC39734).	post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity|metal ion binding|N-acetyllactosamine synthase activity			cervix(1)|endometrium(5)|large_intestine(6)|lung(6)	18	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)		N-Acetyl-D-glucosamine(DB00141)	TGTATCCAAACTTGTTCATAG	0.537													7	52					0	0	1	0	0	T	161143660	C	T	161143660	2	4	184	1	0	0	0	0	0	0	0	1	1270	564	20	2		2	B4GALT3	1	161143660	Silent	SNP	C	TCGA-F6-A8O3-01A-11D-A36O-08	8857340	161143660	88106961	3	24252											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-F6-A8O3-01A-11D-A36O-08	TCGA-F6-A8O3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9127a4d-9030-4ff4-b605-9cb68fdcc1ea	e475d10e-c3d2-43dc-908b-d35a537c9f10	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	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								25	57					0	0	1	0	0	T	209113112	C	T	209113112	3	4	184	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-F6-A8O3-01A-11D-A36O-08		209113112	34086261	4	24253											
SLITRK3	22865	broad.mit.edu	37	3	164906505	164906505	+	Missense_Mutation	SNP	C	C	T			TCGA-F6-A8O3-01A-11D-A36O-08	TCGA-F6-A8O3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9127a4d-9030-4ff4-b605-9cb68fdcc1ea	e475d10e-c3d2-43dc-908b-d35a537c9f10	g.chr3:164906505C>T	ENST00000475390.1	-	2	2557	c.2114G>A	c.(2113-2115)tGc>tAc	p.C705Y	SLITRK3_ENST00000241274.3_Missense_Mutation_p.C705Y			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	705						integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						CAGCCTGTGGCATTGCATTTG	0.592										HNSCC(40;0.11)			33	31					0	0	1	0	0	T	164906505	C	T	164906505	3	4	184	1	0	0	0	0	1	0	0	0	14798	710	25	2	823	2	SLITRK3	3	164906505	Missense_Mutation	SNP	C	TCGA-F6-A8O3-01A-11D-A36O-08		164906505	33115925	5	24254											
FRG1	2483	broad.mit.edu	37	4	190864382	190864382	+	Nonsense_Mutation	SNP	A	A	T			TCGA-F6-A8O3-01A-11D-A36O-08	TCGA-F6-A8O3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9127a4d-9030-4ff4-b605-9cb68fdcc1ea	e475d10e-c3d2-43dc-908b-d35a537c9f10	g.chr4:190864382A>T	ENST00000226798.4	+	2	310	c.88A>T	c.(88-90)Aaa>Taa	p.K30*	FRG1_ENST00000514482.1_3'UTR	NM_004477.2	NP_004468.1	Q14331	FRG1_HUMAN	FSHD region gene 1	30	Lys-rich.				rRNA processing	Cajal body|catalytic step 2 spliceosome|nuclear speck|nucleolus				NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1)	32		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)		caaagataagaaaagaaaaag	0.303													3	45					0	0	1	0	0	T	190864382	A	T	190864382	4	4	184	1	0	0	0	0	0	1	0	0	6081	247	9	5	94	5	FRG1	4	190864382	Nonsense_Mutation	SNP	A	TCGA-F6-A8O3-01A-11D-A36O-08		190864382	289894	6	24255											
NIPBL	25836	broad.mit.edu	37	5	37046252	37046258	+	Frame_Shift_Del	DEL	TACAAAA	TACAAAA	-	rs138404850		TCGA-F6-A8O3-01A-11D-A36O-08	TCGA-F6-A8O3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9127a4d-9030-4ff4-b605-9cb68fdcc1ea	e475d10e-c3d2-43dc-908b-d35a537c9f10	g.chr5:37046252_37046258delTACAAAA	ENST00000282516.8	+	38	7039_7045	c.6540_6546delTACAAAA	c.(6538-6546)tttacaaaafs	p.FTK2180fs	NIPBL_ENST00000448238.2_Frame_Shift_Del_p.FTK2180fs	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	2180					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			TGATGTATTTTACAAAACACTCAGATG	0.29													19	40	---	---	---	---						-	37046258	TACAAAA	-	37046252	7	5	184	1	0	1	0	1	0	0	0	0	10475	1751	61	0	6686	0	NIPBL	5	37046252	Frame_Shift_Del	DEL	TACAAAA	TCGA-F6-A8O3-01A-11D-A36O-08		37046252	143869008	7	24256											
DAB2	1601	broad.mit.edu	37	5	39394362	39394362	+	Missense_Mutation	SNP	T	T	C			TCGA-F6-A8O3-01A-11D-A36O-08	TCGA-F6-A8O3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9127a4d-9030-4ff4-b605-9cb68fdcc1ea	e475d10e-c3d2-43dc-908b-d35a537c9f10	g.chr5:39394362T>C	ENST00000545653.1	-	2	591	c.61A>G	c.(61-63)Aaa>Gaa	p.K21E	DAB2_ENST00000339788.6_Missense_Mutation_p.K21E|DAB2_ENST00000509337.1_Missense_Mutation_p.K21E|DAB2_ENST00000320816.6_Missense_Mutation_p.K21E	NM_001244871.1	NP_001231800.1	P98082	DAB2_HUMAN	Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila)	21					cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway	clathrin coated vesicle membrane|coated pit	protein C-terminus binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	47	all_lung(31;0.000197)		Epithelial(62;0.137)			GAGGGTGCTTTTGGTGCGGCC	0.488													31	31					0	0	1	0	0	C	39394362	T	C	39394362	3	2	184	1	0	0	0	0	1	0	0	0	4242	1850	64	3	2303	3	DAB2	5	39394362	Missense_Mutation	SNP	T	TCGA-F6-A8O3-01A-11D-A36O-08	2348110	39394362	141520898	8	24257											
FOXI1	2299	broad.mit.edu	37	5	169533529	169533529	+	Missense_Mutation	SNP	G	G	A			TCGA-F6-A8O3-01A-11D-A36O-08	TCGA-F6-A8O3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9127a4d-9030-4ff4-b605-9cb68fdcc1ea	e475d10e-c3d2-43dc-908b-d35a537c9f10	g.chr5:169533529G>A	ENST00000449804.2	+	1	613	c.568G>A	c.(568-570)Gac>Aac	p.D190N	FOXI1_ENST00000306268.6_Missense_Mutation_p.D190N	NM_012188.4|NM_144769.2	NP_036320.2|NP_658982.1	Q12951	FOXI1_HUMAN	forkhead box I1	190					epidermal cell fate specification|otic placode formation|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding			breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CGACGAGGACGACCCGGGTAA	0.582									Pendred syndrome				6	17					0	0	1	0	0	A	169533529	G	A	169533529	3	1	184	1	0	0	0	0	1	0	0	0	6043	1058	37	1	570	1	FOXI1	5	169533529	Missense_Mutation	SNP	G	TCGA-F6-A8O3-01A-11D-A36O-08	130139167	169533529	11381731	9	24258											
MOG	4340	broad.mit.edu	37	6	29638125	29638125	+	Silent	SNP	C	C	T			TCGA-F6-A8O3-01A-11D-A36O-08	TCGA-F6-A8O3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9127a4d-9030-4ff4-b605-9cb68fdcc1ea	e475d10e-c3d2-43dc-908b-d35a537c9f10	g.chr6:29638125C>T	ENST00000376894.4	+	6	778	c.660C>T	c.(658-660)ccC>ccT	p.P220P	MOG_ENST00000376902.3_3'UTR|MOG_ENST00000494692.1_Intron|MOG_ENST00000490427.1_Intron|MOG_ENST00000416766.2_Silent_p.P182P|MOG_ENST00000431798.2_Intron|MOG_ENST00000483013.1_Intron|MOG_ENST00000533330.2_3'UTR|MOG_ENST00000376888.2_Silent_p.P104P|MOG_ENST00000376891.4_Intron|MOG_ENST00000396701.2_Intron|MOG_ENST00000396704.3_Intron|MOG_ENST00000376917.3_Silent_p.P220P|MOG_ENST00000376898.3_Silent_p.P220P			Q16653	MOG_HUMAN	myelin oligodendrocyte glycoprotein	220					cell adhesion|central nervous system development|positive regulation of MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|skin(2)	19						TTCTTGGACCCTTGGTTGCCT	0.512													4	81					0	0	1	0	0	T	29638125	C	T	29638125	2	4	184	1	0	0	0	0	0	0	0	1	9742	668	24	2		2	MOG	6	29638125	Silent	SNP	C	TCGA-F6-A8O3-01A-11D-A36O-08		29638125	141476942	10	24259											
POT1	25913	broad.mit.edu	37	7	124503468	124503468	+	Missense_Mutation	SNP	T	T	A			TCGA-F6-A8O3-01A-11D-A36O-08	TCGA-F6-A8O3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9127a4d-9030-4ff4-b605-9cb68fdcc1ea	e475d10e-c3d2-43dc-908b-d35a537c9f10	g.chr7:124503468T>A	ENST00000357628.3	-	8	1080	c.482A>T	c.(481-483)tAt>tTt	p.Y161F	POT1_ENST00000393329.1_Missense_Mutation_p.Y30F	NM_015450.2	NP_056265.2	Q9NUX5	POTE1_HUMAN	protection of telomeres 1	161					DNA duplex unwinding|negative regulation of telomere maintenance via telomerase|positive regulation of DNA strand elongation|positive regulation of helicase activity|positive regulation of telomerase activity|positive regulation of telomere maintenance via telomerase|telomere capping|telomere formation via telomerase|telomere maintenance via telomerase	nuclear telomere cap complex|nucleoplasm	DEAD/H-box RNA helicase binding|single-stranded telomeric DNA binding|telomerase inhibitor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47						CAGGTCAAAATACTGCATTGG	0.403													46	70					0	0	1	0	0	A	124503468	T	A	124503468	3	1	184	1	0	0	0	0	1	0	0	0	12308	1406	49	4	1470	4	POT1	7	124503468	Missense_Mutation	SNP	T	TCGA-F6-A8O3-01A-11D-A36O-08		124503468	34635195	11	24260	120	2									
POT1	25913	broad.mit.edu	37	7	124503470	124503470	+	Missense_Mutation	SNP	C	C	A			TCGA-F6-A8O3-01A-11D-A36O-08	TCGA-F6-A8O3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9127a4d-9030-4ff4-b605-9cb68fdcc1ea	e475d10e-c3d2-43dc-908b-d35a537c9f10	g.chr7:124503470C>A	ENST00000357628.3	-	8	1078	c.480G>T	c.(478-480)caG>caT	p.Q160H	POT1_ENST00000393329.1_Missense_Mutation_p.Q29H	NM_015450.2	NP_056265.2	Q9NUX5	POTE1_HUMAN	protection of telomeres 1	160					DNA duplex unwinding|negative regulation of telomere maintenance via telomerase|positive regulation of DNA strand elongation|positive regulation of helicase activity|positive regulation of telomerase activity|positive regulation of telomere maintenance via telomerase|telomere capping|telomere formation via telomerase|telomere maintenance via telomerase	nuclear telomere cap complex|nucleoplasm	DEAD/H-box RNA helicase binding|single-stranded telomeric DNA binding|telomerase inhibitor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47						GGTCAAAATACTGCATTGGCT	0.398													45	69					1.00776e-21	1.10853e-21	1	1	0	A	124503470	C	A	124503470	3	1	184	1	0	0	0	0	1	0	0	0	12308	564	20	4	1472	4	POT1	7	124503470	Missense_Mutation	SNP	C	TCGA-F6-A8O3-01A-11D-A36O-08	2	124503470	34635193	12	24261	120	2									
FGFR1	2260	broad.mit.edu	37	8	38274849	38274849	+	Missense_Mutation	SNP	G	G	T			TCGA-F6-A8O3-01A-11D-A36O-08	TCGA-F6-A8O3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9127a4d-9030-4ff4-b605-9cb68fdcc1ea	e475d10e-c3d2-43dc-908b-d35a537c9f10	g.chr8:38274849G>T	ENST00000341462.5	-	12	2579	c.1638C>A	c.(1636-1638)aaC>aaA	p.N546K	FGFR1_ENST00000356207.5_Missense_Mutation_p.N457K|FGFR1_ENST00000335922.5_Missense_Mutation_p.N536K|FGFR1_ENST00000397113.2_Missense_Mutation_p.N544K|FGFR1_ENST00000447712.2_Missense_Mutation_p.N546K|FGFR1_ENST00000425967.3_Missense_Mutation_p.N577K|FGFR1_ENST00000397091.5_Missense_Mutation_p.N544K|FGFR1_ENST00000397103.1_Missense_Mutation_p.N457K|FGFR1_ENST00000532791.1_Missense_Mutation_p.N544K|FGFR1_ENST00000397108.4_Missense_Mutation_p.N544K|FGFR1_ENST00000326324.6_Missense_Mutation_p.N455K			P11362	FGFR1_HUMAN	fibroblast growth factor receptor 1	546	Protein kinase.				axon guidance|cell growth|insulin receptor signaling pathway|MAPKKK cascade|positive regulation of cell proliferation|skeletal system development	extracellular region|integral to plasma membrane|membrane fraction	ATP binding|fibroblast growth factor receptor activity|heparin binding|protein homodimerization activity	p.N546K(4)	FGFR1/ZNF703(2)	breast(2)|central_nervous_system(7)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	50	all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442)	Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065)	Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24)		Palifermin(DB00039)	CCCCCAGCAGGTTGATGATAT	0.542		1	T	"BCR, FOP, ZNF198, CEP1"	"MPD, NHL"		"Pfeiffer syndrome, Kallman syndrome"						41	51					9.39024e-22	1.05941e-21	1	1	0	T	38274849	G	T	38274849	3	4	184	1	0	0	0	0	1	0	0	0	5896	1252	44	5	858	5	FGFR1	8	38274849	Missense_Mutation	SNP	G	TCGA-F6-A8O3-01A-11D-A36O-08		38274849	108089173	13	24262											
DOCK8	81704	broad.mit.edu	37	9	368051	368051	+	Missense_Mutation	SNP	C	C	A			TCGA-F6-A8O3-01A-11D-A36O-08	TCGA-F6-A8O3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9127a4d-9030-4ff4-b605-9cb68fdcc1ea	e475d10e-c3d2-43dc-908b-d35a537c9f10	g.chr9:368051C>A	ENST00000432829.2	+	15	1825	c.1509C>A	c.(1507-1509)aaC>aaA	p.N503K	DOCK8_ENST00000382329.1_5'UTR|DOCK8_ENST00000382331.1_5'UTR|DOCK8_ENST00000469391.1_Missense_Mutation_p.N503K|DOCK8_ENST00000453981.1_Missense_Mutation_p.N571K	NM_203447.3	NP_982272.2	Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	571	DHR-1.				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		AGAGGCTGAACTTTGTAAACA	0.393													6	69					1.06961e-07	1.12055e-07	1	1	0	A	368051	C	A	368051	3	1	184	1	0	0	0	0	1	0	0	0	4720	564	20	4	1771	4	DOCK8	9	368051	Missense_Mutation	SNP	C	TCGA-F6-A8O3-01A-11D-A36O-08		368051	140845380	14	24263											
TMEM2	23670	broad.mit.edu	37	9	74332990	74332990	+	Missense_Mutation	SNP	C	C	T	rs140238648		TCGA-F6-A8O3-01A-11D-A36O-08	TCGA-F6-A8O3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9127a4d-9030-4ff4-b605-9cb68fdcc1ea	e475d10e-c3d2-43dc-908b-d35a537c9f10	g.chr9:74332990C>T	ENST00000377044.4	-	13	2812	c.2273G>A	c.(2272-2274)cGa>cAa	p.R758Q	TMEM2_ENST00000377066.5_Missense_Mutation_p.R695Q	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2	758						integral to membrane				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		CTGATGAGGTCGAAATCTAGG	0.338													29	50					0	0	1	0	0	T	74332990	C	T	74332990	3	4	184	1	0	0	0	0	1	0	0	0	16181	884	31	1	1926	1	TMEM2	9	74332990	Missense_Mutation	SNP	C	TCGA-F6-A8O3-01A-11D-A36O-08	73964939	74332990	66880441	15	24264											
KIAA1217	56243	broad.mit.edu	37	10	24669989	24669989	+	Silent	SNP	A	A	G			TCGA-F6-A8O3-01A-11D-A36O-08	TCGA-F6-A8O3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9127a4d-9030-4ff4-b605-9cb68fdcc1ea	e475d10e-c3d2-43dc-908b-d35a537c9f10	g.chr10:24669989A>G	ENST00000376454.3	+	3	576	c.546A>G	c.(544-546)agA>agG	p.R182R	KIAA1217_ENST00000458595.1_Silent_p.R182R|KIAA1217_ENST00000430453.2_Silent_p.R103R|KIAA1217_ENST00000376452.3_Silent_p.R182R|KIAA1217_ENST00000376462.1_Silent_p.R102R	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217	182					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						CGAAAGAAAGATCTCTGGGTA	0.468													17	33					0	0	1	0	0	G	24669989	A	G	24669989	2	3	184	1	0	0	0	0	0	0	0	1	8258	330	12	3		3	KIAA1217	10	24669989	Silent	SNP	A	TCGA-F6-A8O3-01A-11D-A36O-08		24669989	110864758	16	24265											
CYP2C18	1562	broad.mit.edu	37	10	96480296	96480296	+	Splice_Site	SNP	T	T	C			TCGA-F6-A8O3-01A-11D-A36O-08	TCGA-F6-A8O3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9127a4d-9030-4ff4-b605-9cb68fdcc1ea	e475d10e-c3d2-43dc-908b-d35a537c9f10	g.chr10:96480296T>C	ENST00000285979.6	+	6	1160		c.e6+2		CYP2C19_ENST00000464755.1_Splice_Site|CYP2C18_ENST00000339022.5_Splice_Site	NM_000772.2	NP_000763.1			cytochrome P450, family 2, subfamily C, polypeptide 18											NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	26		Colorectal(252;0.09)		all cancers(201;2.8e-06)|KIRC - Kidney renal clear cell carcinoma(50;0.0646)|Kidney(138;0.0805)		AGGTCACAGGTATGATGATAC	0.448													35	43					0	0	1	0	0	C	96480296	T	C	96480296	5	2	184	1	0	0	0	0	0	0	1	0	4188	1652	57	3	985	3	CYP2C18	10	96480296	Splice_Site	SNP	T	TCGA-F6-A8O3-01A-11D-A36O-08	71810307	96480296	39054451	17	24266											
TSKU	25987	broad.mit.edu	37	11	76507258	76507258	+	Missense_Mutation	SNP	C	C	G			TCGA-F6-A8O3-01A-11D-A36O-08	TCGA-F6-A8O3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9127a4d-9030-4ff4-b605-9cb68fdcc1ea	e475d10e-c3d2-43dc-908b-d35a537c9f10	g.chr11:76507258C>G	ENST00000527881.1	+	2	1624	c.598C>G	c.(598-600)Ccc>Gcc	p.P200A	TSKU_ENST00000333090.4_Missense_Mutation_p.P200A			Q8WUA8	TSK_HUMAN	tsukushi, small leucine rich proteoglycan	200						extracellular region				NS(1)|large_intestine(4)|lung(6)|urinary_tract(1)	12	Ovarian(111;0.112)					CCATGCCGTGCCCAACCTCCG	0.667													34	43					0	0	1	0	0	G	76507258	C	G	76507258	3	3	184	1	0	0	0	0	1	0	0	0	16688	739	26	5	600	5	TSKU	11	76507258	Missense_Mutation	SNP	C	TCGA-F6-A8O3-01A-11D-A36O-08		76507258	58499258	18	24267											
PDGFD	80310	broad.mit.edu	37	11	103866968	103866968	+	Missense_Mutation	SNP	T	T	C			TCGA-F6-A8O3-01A-11D-A36O-08	TCGA-F6-A8O3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9127a4d-9030-4ff4-b605-9cb68fdcc1ea	e475d10e-c3d2-43dc-908b-d35a537c9f10	g.chr11:103866968T>C	ENST00000302251.5	-	3	768	c.317A>G	c.(316-318)gAt>gGt	p.D106G	PDGFD_ENST00000393158.2_Missense_Mutation_p.D112G	NM_025208.4|NM_033135.3	NP_079484.1|NP_149126.1	Q9GZP0	PDGFD_HUMAN	platelet derived growth factor D	112	CUB.				positive regulation of cell division	endoplasmic reticulum lumen|extracellular region|Golgi membrane	growth factor activity			biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Melanoma(852;0.0563)|all_neural(303;0.165)		BRCA - Breast invasive adenocarcinoma(274;0.00136)|Epithelial(105;0.111)		TTCCACAAAATCATACCTAGA	0.328													11	46					0	0	1	0	0	C	103866968	T	C	103866968	3	2	184	1	0	0	0	0	1	0	0	0	11707	1435	50	3	797	3	PDGFD	11	103866968	Missense_Mutation	SNP	T	TCGA-F6-A8O3-01A-11D-A36O-08	27359710	103866968	31139548	19	24268											
ATM	472	broad.mit.edu	37	11	108124759	108124759	+	Nonsense_Mutation	SNP	C	C	A			TCGA-F6-A8O3-01A-11D-A36O-08	TCGA-F6-A8O3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9127a4d-9030-4ff4-b605-9cb68fdcc1ea	e475d10e-c3d2-43dc-908b-d35a537c9f10	g.chr11:108124759C>A	ENST00000278616.4	+	13	2502	c.2117C>A	c.(2116-2118)tCa>tAa	p.S706*	ATM_ENST00000452508.2_Nonsense_Mutation_p.S706*	NM_000051.3	NP_000042	Q13315	ATM_HUMAN	ataxia telangiectasia mutated	706			YSS -> FIP (in AT; might be associated with susceptibility to cancer).		cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		AATAATTACTCATCTGAGGTG	0.393			"D, Mis, N, F, S"		T-PLL	"leukemia, lymphoma, medulloblastoma, glioma"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			32	51					8.88839e-20	9.53876e-20	1	1	0	A	108124759	C	A	108124759	4	1	184	1	0	0	0	0	0	1	0	0	1108	838	29	5	2163	5	ATM	11	108124759	Nonsense_Mutation	SNP	C	TCGA-F6-A8O3-01A-11D-A36O-08	4257791	108124759	26881757	20	24269											
SLC2A14	144195	broad.mit.edu	37	12	7967043	7967043	+	Missense_Mutation	SNP	G	G	A			TCGA-F6-A8O3-01A-11D-A36O-08	TCGA-F6-A8O3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9127a4d-9030-4ff4-b605-9cb68fdcc1ea	e475d10e-c3d2-43dc-908b-d35a537c9f10	g.chr12:7967043G>A	ENST00000543909.1	-	16	2191	c.1432C>T	c.(1432-1434)Cgt>Tgt	p.R478C	SLC2A14_ENST00000535295.1_Missense_Mutation_p.R369C|SLC2A14_ENST00000340749.5_Missense_Mutation_p.R455C|SLC2A14_ENST00000539924.1_Missense_Mutation_p.R493C|SLC2A14_ENST00000542546.1_Missense_Mutation_p.R369C|SLC2A14_ENST00000431042.2_Missense_Mutation_p.R455C|SLC2A14_ENST00000396589.2_Missense_Mutation_p.R478C|SLC2A14_ENST00000542505.1_Missense_Mutation_p.R119C			Q8TDB8	GTR14_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 14	478					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane	glucose transmembrane transporter activity			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	38				Kidney(36;0.0883)		GTCCTGCCACGGGTCTCAGGG	0.498													30	51					0	0	1	0	0	A	7967043	G	A	7967043	3	1	184	1	0	0	0	0	1	0	0	0	14598	1116	39	1	134	1	SLC2A14	12	7967043	Missense_Mutation	SNP	G	TCGA-F6-A8O3-01A-11D-A36O-08		7967043	125884852	21	24270											
SLC2A3	6515	broad.mit.edu	37	12	8074140	8074140	+	Missense_Mutation	SNP	G	G	A			TCGA-F6-A8O3-01A-11D-A36O-08	TCGA-F6-A8O3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9127a4d-9030-4ff4-b605-9cb68fdcc1ea	e475d10e-c3d2-43dc-908b-d35a537c9f10	g.chr12:8074140G>A	ENST00000075120.7	-	10	1600	c.1360C>T	c.(1360-1362)Cgt>Tgt	p.R454C		NM_006931.2	NP_008862.1	P11169	GTR3_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 3	454					carbohydrate metabolic process|water-soluble vitamin metabolic process	integral to membrane|plasma membrane	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity			central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(14)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				Kidney(36;0.0866)		GTCCTGCCACGGGTCTCAGGG	0.488													14	125					0	0	1	0	0	A	8074140	G	A	8074140	3	1	184	1	0	0	0	0	1	0	0	0	14600	1116	39	1	134	1	SLC2A3	12	8074140	Missense_Mutation	SNP	G	TCGA-F6-A8O3-01A-11D-A36O-08	107097	8074140	125777755	22	24271											
KRT85	3891	broad.mit.edu	37	12	52760836	52760836	+	Silent	SNP	G	G	A			TCGA-F6-A8O3-01A-11D-A36O-08	TCGA-F6-A8O3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9127a4d-9030-4ff4-b605-9cb68fdcc1ea	e475d10e-c3d2-43dc-908b-d35a537c9f10	g.chr12:52760836G>A	ENST00000257901.3	-	1	429	c.354C>T	c.(352-354)tgC>tgT	p.C118C		NM_002283.3	NP_002274.1	P78386	KRT85_HUMAN	keratin 85	118	Head.				epidermis development	keratin filament	protein binding|structural molecule activity			NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(7)|liver(1)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	36	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		CCTGCTTCACGCACTGTGCGT	0.632													55	114					0	0	1	0	0	A	52760836	G	A	52760836	2	1	184	1	0	0	0	0	0	0	0	1	8542	1079	38	1		1	KRT85	12	52760836	Silent	SNP	G	TCGA-F6-A8O3-01A-11D-A36O-08	44686696	52760836	81091059	23	24272											
CPEB1	64506	broad.mit.edu	37	15	83218295	83218295	+	Missense_Mutation	SNP	A	A	G			TCGA-F6-A8O3-01A-11D-A36O-08	TCGA-F6-A8O3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9127a4d-9030-4ff4-b605-9cb68fdcc1ea	e475d10e-c3d2-43dc-908b-d35a537c9f10	g.chr15:83218295A>G	ENST00000562833.1	-	5	517	c.518T>C	c.(517-519)cTg>cCg	p.L173P	RP11-379H8.1_ENST00000568285.1_Intron|CPEB1_ENST00000568757.1_Silent_p.A363A|CPEB1_ENST00000564522.1_Silent_p.A363A|CPEB1_ENST00000562019.1_Silent_p.A443A|CPEB1_ENST00000398591.2_Silent_p.A368A|CPEB1_ENST00000563800.1_Silent_p.A465A|CPEB1_ENST00000423133.2_Silent_p.A363A|CPEB1_ENST00000261723.6_Silent_p.A441A|CPEB1_ENST00000398592.2_Silent_p.A212A|CPEB1_ENST00000568128.1_Silent_p.A438A|CPEB1_ENST00000450751.2_Silent_p.A363A																							CCAGGGCCTCAGCATTTAGCA	0.527													27	29					0	0	1	0	0	G	83218295	A	G	83218295	3	3	184	1	0	0	0	0	1	0	0	0	3823	175	7	3	387	3	CPEB1	15	83218295	Missense_Mutation	SNP	A	TCGA-F6-A8O3-01A-11D-A36O-08		83218295	19313097	24	24273											
CNGB1	1258	broad.mit.edu	37	16	57998056	57998056	+	Missense_Mutation	SNP	C	C	T			TCGA-F6-A8O3-01A-11D-A36O-08	TCGA-F6-A8O3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9127a4d-9030-4ff4-b605-9cb68fdcc1ea	e475d10e-c3d2-43dc-908b-d35a537c9f10	g.chr16:57998056C>T	ENST00000564448.1	-	4	328	c.268G>A	c.(268-270)Gct>Act	p.A90T	CNGB1_ENST00000311183.4_Missense_Mutation_p.A90T|CNGB1_ENST00000251102.8_Missense_Mutation_p.A90T			Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1	90					sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						GAAATCTCAGCGCCCTGGGCC	0.587													10	10					0	0	1	0	0	T	57998056	C	T	57998056	3	4	184	1	0	0	0	0	1	0	0	0	3623	768	27	1	3637	1	CNGB1	16	57998056	Missense_Mutation	SNP	C	TCGA-F6-A8O3-01A-11D-A36O-08		57998056	32356697	25	24274											
KRT33B	3884	broad.mit.edu	37	17	39521493	39521493	+	Silent	SNP	C	C	T			TCGA-F6-A8O3-01A-11D-A36O-08	TCGA-F6-A8O3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9127a4d-9030-4ff4-b605-9cb68fdcc1ea	e475d10e-c3d2-43dc-908b-d35a537c9f10	g.chr17:39521493C>T	ENST00000251646.3	-	5	859	c.810G>A	c.(808-810)gcG>gcA	p.A270A		NM_002279.4	NP_002270.1	Q14525	KT33B_HUMAN	keratin 33B	270	Coil 2.|Rod.					intermediate filament	protein binding|structural molecule activity			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(6)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000496)				CGATGATCTCCGCCTGGTAGG	0.587													45	54					0	0	1	0	0	T	39521493	C	T	39521493	2	4	184	1	0	0	0	0	0	0	0	1	8513	639	23	1		1	KRT33B	17	39521493	Silent	SNP	C	TCGA-F6-A8O3-01A-11D-A36O-08		39521493	41673717	26	24275											
HMHA1	23526	broad.mit.edu	37	19	1080421	1080421	+	Missense_Mutation	SNP	C	C	T			TCGA-F6-A8O3-01A-11D-A36O-08	TCGA-F6-A8O3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9127a4d-9030-4ff4-b605-9cb68fdcc1ea	e475d10e-c3d2-43dc-908b-d35a537c9f10	g.chr19:1080421C>T	ENST00000536472.1	+	13	1629	c.1391C>T	c.(1390-1392)gCg>gTg	p.A464V	HMHA1_ENST00000586866.1_Intron|HMHA1_ENST00000590577.1_Intron|HMHA1_ENST00000539243.2_Intron|HMHA1_ENST00000543365.1_Intron|HMHA1_ENST00000313093.2_Intron|HMHA1_ENST00000590214.1_Intron			Q92619	HMHA1_HUMAN	histocompatibility (minor) HA-1	609					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(7)|ovary(1)|prostate(2)	16		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)		TGGCTCCCTGCGACCCACCCT	0.677													22	37					0	0	1	0	0	T	1080421	C	T	1080421	3	4	184	1	0	0	0	0	1	0	0	0	7281	783	27	1		1	HMHA1	19	1080421	Missense_Mutation	SNP	C	TCGA-F6-A8O3-01A-11D-A36O-08		1080421	58048562	27	24276											
SMARCA4	6597	broad.mit.edu	37	19	11129635	11129635	+	Missense_Mutation	SNP	C	C	A			TCGA-F6-A8O3-01A-11D-A36O-08	TCGA-F6-A8O3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9127a4d-9030-4ff4-b605-9cb68fdcc1ea	e475d10e-c3d2-43dc-908b-d35a537c9f10	g.chr19:11129635C>A	ENST00000358026.2	+	17	2725	c.2441C>A	c.(2440-2442)aCg>aAg	p.T814K	SMARCA4_ENST00000413806.3_Missense_Mutation_p.T814K|SMARCA4_ENST00000344626.4_Missense_Mutation_p.T814K|SMARCA4_ENST00000541122.2_Missense_Mutation_p.T814K|SMARCA4_ENST00000589677.1_Missense_Mutation_p.T814K|SMARCA4_ENST00000450717.3_Missense_Mutation_p.T814K|SMARCA4_ENST00000429416.3_Missense_Mutation_p.T814K|SMARCA4_ENST00000590574.1_Missense_Mutation_p.T814K|SMARCA4_ENST00000444061.3_Missense_Mutation_p.T814K	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	814	Helicase ATP-binding.				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)|p.T814K(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				TCCATCAGAACGCTGTCCAAC	0.547			"F, N, Mis"		NSCLC								39	58					9.73076e-26	1.12672e-25	1	1	0	A	11129635	C	A	11129635	3	1	184	1	0	0	0	0	1	0	0	0	14824	536	19	5	2503	5	SMARCA4	19	11129635	Missense_Mutation	SNP	C	TCGA-F6-A8O3-01A-11D-A36O-08	10049214	11129635	47999348	28	24277											
CPAMD8	27151	broad.mit.edu	37	19	17085906	17085906	+	Missense_Mutation	SNP	C	C	T			TCGA-F6-A8O3-01A-11D-A36O-08	TCGA-F6-A8O3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9127a4d-9030-4ff4-b605-9cb68fdcc1ea	e475d10e-c3d2-43dc-908b-d35a537c9f10	g.chr19:17085906C>T	ENST00000388925.4	-	13	1601	c.1429G>A	c.(1429-1431)Gta>Ata	p.V477I	CPAMD8_ENST00000443236.1_Splice_Site			Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	0						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						CCTCTCCTTACGGTGAAGGCA	0.547													7	7					0	0	1	0	0	T	17085906	C	T	17085906	3	4	184	1	0	0	0	0	1	0	0	0	3818	550	19	1	3690	1	CPAMD8	19	17085906	Missense_Mutation	SNP	C	TCGA-F6-A8O3-01A-11D-A36O-08	5956271	17085906	42043077	29	24278											
RIPK4	54101	broad.mit.edu	37	21	43166847	43166847	+	Missense_Mutation	SNP	C	C	T			TCGA-F6-A8O3-01A-11D-A36O-08	TCGA-F6-A8O3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9127a4d-9030-4ff4-b605-9cb68fdcc1ea	e475d10e-c3d2-43dc-908b-d35a537c9f10	g.chr21:43166847C>T	ENST00000352483.2	-	5	822	c.758G>A	c.(757-759)cGc>cAc	p.R253H	RIPK4_ENST00000332512.3_Missense_Mutation_p.R253H|RIPK4_ENST00000542057.1_Missense_Mutation_p.R190H|RIPK4_ENST00000544709.1_Missense_Mutation_p.R190H			Q96T11	Q96T11_HUMAN	receptor-interacting serine-threonine kinase 4	253						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						GCTGCAGGCGCGCGGCCGGGC	0.667													36	54					0	0	1	0	0	T	43166847	C	T	43166847	3	4	184	1	0	0	0	0	1	0	0	0	13435	768	27	1	1612	1	RIPK4	21	43166847	Missense_Mutation	SNP	C	TCGA-F6-A8O3-01A-11D-A36O-08		43166847	4963048	30	24279											
DDX17	10521	broad.mit.edu	37	22	38901984	38901984	+	Frame_Shift_Del	DEL	C	C	-			TCGA-F6-A8O3-01A-11D-A36O-08	TCGA-F6-A8O3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9127a4d-9030-4ff4-b605-9cb68fdcc1ea	e475d10e-c3d2-43dc-908b-d35a537c9f10	g.chr22:38901984delC	ENST00000396821.3	-	1	358	c.259delG	c.(259-261)gacfs	p.D87fs	DDX17_ENST00000381633.3_Frame_Shift_Del_p.D8fs|DDX17_ENST00000432525.1_Intron	NM_001098504.1|NM_006386.4	NP_001091974|NP_006377.2	Q92841	DDX17_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 17	8					RNA processing	nucleus	ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity|RNA-dependent ATPase activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	25	Melanoma(58;0.0286)					CGGTCCCGGTCCCCAAAGCCT	0.701													2	4	---	---	---	---						-	38901984	C	-	38901984	7	5	184	1	0	1	0	1	0	0	0	0	4367	855	30	0	1988	0	DDX17	22	38901984	Frame_Shift_Del	DEL	C	TCGA-F6-A8O3-01A-11D-A36O-08		38901984	12402582	31	24280											
DIRAS3	9077	broad.mit.edu	37	1	68512673	68512673	+	Missense_Mutation	SNP	C	C	T			TCGA-F6-A8O4-01A-11D-A36O-08	TCGA-F6-A8O4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b84738a-cf7a-4a77-ad75-1dfd122b8b53	9e076e01-70de-4838-93e2-3dd3b262ee64	g.chr1:68512673C>T	ENST00000370981.1	-	4	944	c.308G>A	c.(307-309)cGc>cAc	p.R103H	GNG12-AS1_ENST00000413628.1_RNA|DIRAS3_ENST00000395201.1_Missense_Mutation_p.R103H|GNG12-AS1_ENST00000420587.1_RNA			O95661	DIRA3_HUMAN	DIRAS family, GTP-binding RAS-like 3	103					regulation of cyclin-dependent protein kinase activity|regulation of gene expression by genetic imprinting|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity	p.R103L(2)		NS(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						TATAACGTGGCGCTGCAGAGC	0.577													58	93					0	0	1	0	0	T	68512673	C	T	68512673	3	4	185	1	0	0	0	0	1	0	0	0	4560	768	27	1	385	1	DIRAS3	1	68512673	Missense_Mutation	SNP	C	TCGA-F6-A8O4-01A-11D-A36O-08		68512673	180737948	1	24281											
C1orf85	112770	broad.mit.edu	37	1	156262835	156262835	+	Silent	SNP	T	T	C			TCGA-F6-A8O4-01A-11D-A36O-08	TCGA-F6-A8O4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b84738a-cf7a-4a77-ad75-1dfd122b8b53	9e076e01-70de-4838-93e2-3dd3b262ee64	g.chr1:156262835T>C	ENST00000362007.1	-	6	1247	c.1221A>G	c.(1219-1221)taA>taG	p.*407*	C1orf85_ENST00000482579.1_5'UTR	NM_001256604.1|NM_001256609.1|NM_144580.2	NP_001243533.1|NP_001243538.1|NP_653181.1	Q8WWB7	NCUG1_HUMAN	chromosome 1 open reading frame 85	0					positive regulation of transcription from RNA polymerase II promoter	cytosol|integral to membrane|lysosomal membrane|nucleus	ligand-dependent nuclear receptor activity|protein binding transcription factor activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(2)|prostate(2)|skin(3)	14	Hepatocellular(266;0.158)					AGAGCGGGCCTTAATTTATGG	0.582													34	52					0	0	1	0	0	C	156262835	T	C	156262835	2	2	185	1	0	0	0	0	0	0	0	1	2076	1616	56	3		3	C1orf85	1	156262835	Silent	SNP	T	TCGA-F6-A8O4-01A-11D-A36O-08	87750162	156262835	92987786	2	24282											
DUSP27	92235	broad.mit.edu	37	1	167097663	167097663	+	Missense_Mutation	SNP	G	G	A			TCGA-F6-A8O4-01A-11D-A36O-08	TCGA-F6-A8O4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b84738a-cf7a-4a77-ad75-1dfd122b8b53	9e076e01-70de-4838-93e2-3dd3b262ee64	g.chr1:167097663G>A	ENST00000361200.2	+	6	3461	c.3295G>A	c.(3295-3297)Gga>Aga	p.G1099R	DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000271385.5_Missense_Mutation_p.G1099R|DUSP27_ENST00000443333.1_Missense_Mutation_p.G1099R			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	1099					protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity	p.G1099*(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						TGAAGAAGAGGGAGAGAAAGA	0.498													4	14					0	0	1	0	0	A	167097663	G	A	167097663	3	1	185	1	0	0	0	0	1	0	0	0	4850	1233	43	2	3313	2	DUSP27	1	167097663	Missense_Mutation	SNP	G	TCGA-F6-A8O4-01A-11D-A36O-08	10834828	167097663	82152958	3	24283											
PRG4	10216	broad.mit.edu	37	1	186276099	186276099	+	Silent	SNP	C	C	T			TCGA-F6-A8O4-01A-11D-A36O-08	TCGA-F6-A8O4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b84738a-cf7a-4a77-ad75-1dfd122b8b53	9e076e01-70de-4838-93e2-3dd3b262ee64	g.chr1:186276099C>T	ENST00000445192.2	+	7	1293	c.1248C>T	c.(1246-1248)acC>acT	p.T416T	PRG4_ENST00000367483.4_Silent_p.T375T|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367486.3_Silent_p.T373T|PRG4_ENST00000367485.4_Silent_p.T323T	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	416	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CACCCACCACCACCAAGGAGC	0.657													3	70					0	0	1	0	0	T	186276099	C	T	186276099	2	4	185	1	0	0	0	0	0	0	0	1	12533	581	21	2		2	PRG4	1	186276099	Silent	SNP	C	TCGA-F6-A8O4-01A-11D-A36O-08	19178436	186276099	62974522	4	24284											
OBSCN	84033	broad.mit.edu	37	1	228451927	228451927	+	Missense_Mutation	SNP	A	A	C			TCGA-F6-A8O4-01A-11D-A36O-08	TCGA-F6-A8O4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b84738a-cf7a-4a77-ad75-1dfd122b8b53	9e076e01-70de-4838-93e2-3dd3b262ee64	g.chr1:228451927A>C	ENST00000570156.2	+	18	5322	c.5248A>C	c.(5248-5250)Acg>Ccg	p.T1750P	OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000422127.1_Missense_Mutation_p.T1566P|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000284548.11_Missense_Mutation_p.T1566P|OBSCN_ENST00000359599.6_Missense_Mutation_p.T222P	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	738	Fibronectin type-III 2.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GACAGAGGTGACGTGGTACAA	0.662													4	85					0	0	1	0	0	C	228451927	A	C	228451927	3	2	185	1	0	0	0	0	1	0	0	0	10860	275	10	5	4754	5	OBSCN	1	228451927	Missense_Mutation	SNP	A	TCGA-F6-A8O4-01A-11D-A36O-08	42175828	228451927	20798694	5	24285											
TRIM58	25893	broad.mit.edu	37	1	248028032	248028032	+	Missense_Mutation	SNP	G	G	A	rs147592698	by1000genomes	TCGA-F6-A8O4-01A-11D-A36O-08	TCGA-F6-A8O4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b84738a-cf7a-4a77-ad75-1dfd122b8b53	9e076e01-70de-4838-93e2-3dd3b262ee64	g.chr1:248028032G>A	ENST00000366481.3	+	3	590	c.542G>A	c.(541-543)cGc>cAc	p.R181H		NM_015431.3	NP_056246.3	Q8NG06	TRI58_HUMAN	tripartite motif containing 58	181						intracellular	zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			CAGAGGCAGCGCTTCAGATTG	0.592													14	17					0	0	1	0	0	A	248028032	G	A	248028032	3	1	185	1	0	0	0	0	1	0	0	0	16592	1087	38	1	552	1	TRIM58	1	248028032	Missense_Mutation	SNP	G	TCGA-F6-A8O4-01A-11D-A36O-08	19576105	248028032	1222589	6	24286											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-F6-A8O4-01A-11D-A36O-08	TCGA-F6-A8O4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b84738a-cf7a-4a77-ad75-1dfd122b8b53	9e076e01-70de-4838-93e2-3dd3b262ee64	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								19	47					0	0	1	0	0	T	209113112	C	T	209113112	3	4	185	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-F6-A8O4-01A-11D-A36O-08		209113112	34086261	7	24287											
CXCR1	3577	broad.mit.edu	37	2	219028901	219028901	+	Missense_Mutation	SNP	T	T	C			TCGA-F6-A8O4-01A-11D-A36O-08	TCGA-F6-A8O4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b84738a-cf7a-4a77-ad75-1dfd122b8b53	9e076e01-70de-4838-93e2-3dd3b262ee64	g.chr2:219028901T>C	ENST00000295683.2	-	2	1154	c.1034A>G	c.(1033-1035)aAt>aGt	p.N345S		NM_000634.2	NP_000625.1	P25024	CXCR1_HUMAN	chemokine (C-X-C motif) receptor 1	345					dendritic cell chemotaxis|inflammatory response	integral to membrane|plasma membrane	interleukin-8 receptor activity			endometrium(1)|large_intestine(2)|lung(7)|prostate(3)	13						GGAAGAGACATTGACAGACGA	0.478													16	25					0	0	1	0	0	C	219028901	T	C	219028901	3	2	185	1	0	0	0	0	1	0	0	0	4113	1493	52	3	22	3	CXCR1	2	219028901	Missense_Mutation	SNP	T	TCGA-F6-A8O4-01A-11D-A36O-08	9915789	219028901	24170472	8	24288											
CNTN4	152330	broad.mit.edu	37	3	2967440	2967440	+	Silent	SNP	G	G	A			TCGA-F6-A8O4-01A-11D-A36O-08	TCGA-F6-A8O4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b84738a-cf7a-4a77-ad75-1dfd122b8b53	9e076e01-70de-4838-93e2-3dd3b262ee64	g.chr3:2967440G>A	ENST00000397461.1	+	12	1719	c.1335G>A	c.(1333-1335)agG>agA	p.R445R	CNTN4_ENST00000475817.1_3'UTR|CNTN4_ENST00000397459.2_Silent_p.R117R|CNTN4_ENST00000427331.1_Silent_p.R445R|CNTN4_ENST00000358480.3_Silent_p.R226R|CNTN4_ENST00000448906.2_Silent_p.R117R|CNTN4_ENST00000418658.1_Silent_p.R445R	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	445	Ig-like C2-type 5.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		AGAAAGGAAGGGATATATTAA	0.343													4	76					0	0	1	0	0	A	2967440	G	A	2967440	2	1	185	1	0	0	0	0	0	0	0	1	3666	1223	43	2		2	CNTN4	3	2967440	Silent	SNP	G	TCGA-F6-A8O4-01A-11D-A36O-08		2967440	195054990	9	24289											
SCN11A	11280	broad.mit.edu	37	3	38888474	38888474	+	Missense_Mutation	SNP	C	C	T			TCGA-F6-A8O4-01A-11D-A36O-08	TCGA-F6-A8O4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b84738a-cf7a-4a77-ad75-1dfd122b8b53	9e076e01-70de-4838-93e2-3dd3b262ee64	g.chr3:38888474C>T	ENST00000302328.3	-	26	5285	c.5087G>A	c.(5086-5088)gGc>gAc	p.G1696D	SCN11A_ENST00000456224.3_Missense_Mutation_p.G1658D|SCN11A_ENST00000450244.1_Missense_Mutation_p.G1696D	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	1696					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	GCCATCAGAGCCACCGAGTAC	0.448													44	74					0	0	1	0	0	T	38888474	C	T	38888474	3	4	185	1	0	0	0	0	1	0	0	0	13967	739	26	2	292	2	SCN11A	3	38888474	Missense_Mutation	SNP	C	TCGA-F6-A8O4-01A-11D-A36O-08	35921034	38888474	159133956	10	24290											
IQCG	84223	broad.mit.edu	37	3	197670672	197670672	+	Missense_Mutation	SNP	C	C	T			TCGA-F6-A8O4-01A-11D-A36O-08	TCGA-F6-A8O4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b84738a-cf7a-4a77-ad75-1dfd122b8b53	9e076e01-70de-4838-93e2-3dd3b262ee64	g.chr3:197670672C>T	ENST00000265239.6	-	4	683	c.259G>A	c.(259-261)Gaa>Aaa	p.E87K	IQCG_ENST00000480302.1_5'UTR|IQCG_ENST00000453254.1_Missense_Mutation_p.E87K|IQCG_ENST00000455191.1_Missense_Mutation_p.E87K	NM_032263.3	NP_115639.1	Q9H095	IQCG_HUMAN	IQ motif containing G	87										autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;7.19e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.149)		TGTCTCCCTTCGTACTGAACG	0.453													30	52					0	0	1	0	0	T	197670672	C	T	197670672	3	4	185	1	0	0	0	0	1	0	0	0	7854	893	31	1	1108	1	IQCG	3	197670672	Missense_Mutation	SNP	C	TCGA-F6-A8O4-01A-11D-A36O-08	158782198	197670672	351758	11	24291											
SLC6A19	340024	broad.mit.edu	37	5	1221296	1221296	+	Silent	SNP	C	C	A			TCGA-F6-A8O4-01A-11D-A36O-08	TCGA-F6-A8O4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b84738a-cf7a-4a77-ad75-1dfd122b8b53	9e076e01-70de-4838-93e2-3dd3b262ee64	g.chr5:1221296C>A	ENST00000304460.10	+	11	1625	c.1569C>A	c.(1567-1569)ggC>ggA	p.G523G		NM_001003841.2	NP_001003841.1	Q695T7	S6A19_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 19	523					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			TCATGATCGGCCACAAGCCCA	0.542													3	31					1	1	1	1	0	A	1221296	C	A	1221296	2	1	185	1	0	0	0	0	0	0	0	1	14737	726	26	5		5	SLC6A19	5	1221296	Silent	SNP	C	TCGA-F6-A8O4-01A-11D-A36O-08		1221296	179693964	12	24292											
APC	324	broad.mit.edu	37	5	112176256	112176256	+	Silent	SNP	A	A	C			TCGA-F6-A8O4-01A-11D-A36O-08	TCGA-F6-A8O4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b84738a-cf7a-4a77-ad75-1dfd122b8b53	9e076e01-70de-4838-93e2-3dd3b262ee64	g.chr5:112176256A>C	ENST00000457016.1	+	16	5345	c.4965A>C	c.(4963-4965)acA>acC	p.T1655T	CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000257430.4_Silent_p.T1655T|APC_ENST00000508376.2_Silent_p.T1655T			P25054	APC_HUMAN	adenomatous polyposis coli	1655	Ser-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.K1192fs*3(1)|p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		CCACAGCTACATCTCTAAGTG	0.448		12	"D, Mis, N, F, S"		"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"	"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)			28	31					0	0	1	0	0	C	112176256	A	C	112176256	2	2	185	1	0	0	0	0	0	0	0	1	759	204	8	4		4	APC	5	112176256	Silent	SNP	A	TCGA-F6-A8O4-01A-11D-A36O-08	110954960	112176256	68739004	13	24293											
CNOT6	57472	broad.mit.edu	37	5	179998424	179998424	+	Missense_Mutation	SNP	G	G	A			TCGA-F6-A8O4-01A-11D-A36O-08	TCGA-F6-A8O4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b84738a-cf7a-4a77-ad75-1dfd122b8b53	9e076e01-70de-4838-93e2-3dd3b262ee64	g.chr5:179998424G>A	ENST00000393356.1	+	13	1877	c.1453G>A	c.(1453-1455)Gat>Aat	p.D485N	CNOT6_ENST00000261951.4_Missense_Mutation_p.D485N			Q9ULM6	CNOT6_HUMAN	CCR4-NOT transcription complex, subunit 6	485					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	exonuclease activity|metal ion binding|protein binding|RNA binding			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|skin(1)	23	all_cancers(89;3.3e-05)|all_epithelial(37;7.38e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00543)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	OV - Ovarian serous cystadenocarcinoma(192;0.023)		TTACACATTTGATTTCAAGGT	0.413													23	37					0	0	1	0	0	A	179998424	G	A	179998424	3	1	185	1	0	0	0	0	1	0	0	0	3645	1290	45	2	1491	2	CNOT6	5	179998424	Missense_Mutation	SNP	G	TCGA-F6-A8O4-01A-11D-A36O-08	67822168	179998424	916836	14	24294											
DEFB113	245927	broad.mit.edu	37	6	49936524	49936524	+	Missense_Mutation	SNP	G	G	A			TCGA-F6-A8O4-01A-11D-A36O-08	TCGA-F6-A8O4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b84738a-cf7a-4a77-ad75-1dfd122b8b53	9e076e01-70de-4838-93e2-3dd3b262ee64	g.chr6:49936524G>A	ENST00000398718.1	-	2	114	c.115C>T	c.(115-117)Cgt>Tgt	p.R39C		NM_001037729.1	NP_001032818.1	Q30KQ7	DB113_HUMAN	defensin, beta 113	39					defense response to bacterium	extracellular region		p.R39C(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)	7	Lung NSC(77;0.042)					CAAGCACCACGAACAAGCTGA	0.403													3	38					0	0	1	0	0	A	49936524	G	A	49936524	3	1	185	1	0	0	0	0	1	0	0	0	4429	1058	37	1	129	1	DEFB113	6	49936524	Missense_Mutation	SNP	G	TCGA-F6-A8O4-01A-11D-A36O-08		49936524	121178543	15	24295											
ZNF107	51427	broad.mit.edu	37	7	64168484	64168484	+	Missense_Mutation	SNP	T	T	C			TCGA-F6-A8O4-01A-11D-A36O-08	TCGA-F6-A8O4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b84738a-cf7a-4a77-ad75-1dfd122b8b53	9e076e01-70de-4838-93e2-3dd3b262ee64	g.chr7:64168484T>C	ENST00000395391.1	+	4	3177	c.1802T>C	c.(1801-1803)aTt>aCt	p.I601T	ZNF107_ENST00000344930.3_Missense_Mutation_p.I601T|ZNF107_ENST00000423627.1_Missense_Mutation_p.I601T			Q9UII5	ZN107_HUMAN	zinc finger protein 107	601					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(18)|ovary(1)|stomach(1)	37		Lung NSC(55;0.00948)|all_lung(88;0.0249)				CATAAGATAATTTATACTGGA	0.328													27	30					0	0	1	0	0	C	64168484	T	C	64168484	3	2	185	1	0	0	0	0	1	0	0	0	17773	1493	52	3	1808	3	ZNF107	7	64168484	Missense_Mutation	SNP	T	TCGA-F6-A8O4-01A-11D-A36O-08		64168484	94970179	16	24296											
YWHAG	7532	broad.mit.edu	37	7	75959375	75959375	+	Missense_Mutation	SNP	T	T	C			TCGA-F6-A8O4-01A-11D-A36O-08	TCGA-F6-A8O4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b84738a-cf7a-4a77-ad75-1dfd122b8b53	9e076e01-70de-4838-93e2-3dd3b262ee64	g.chr7:75959375T>C	ENST00000307630.3	-	2	485	c.263A>G	c.(262-264)aAg>aGg	p.K88R		NM_012479.3	NP_036611.2	P61981	1433G_HUMAN	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, gamma polypeptide	88					G2/M transition of mitotic cell cycle|regulation of neuron differentiation|regulation of signal transduction|regulation of synaptic plasticity	cytosol	insulin-like growth factor receptor binding|protein kinase C binding|protein kinase C inhibitor activity			endometrium(2)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)	8						CTTCTCTATCTTCTCCCGGTA	0.532													54	88					0	0	1	0	0	C	75959375	T	C	75959375	3	2	185	1	0	0	0	0	1	0	0	0	17563	1609	56	3	484	3	YWHAG	7	75959375	Missense_Mutation	SNP	T	TCGA-F6-A8O4-01A-11D-A36O-08	11790891	75959375	83179288	17	24297											
STEAP2	261729	broad.mit.edu	37	7	89856666	89856666	+	Missense_Mutation	SNP	C	C	G			TCGA-F6-A8O4-01A-11D-A36O-08	TCGA-F6-A8O4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b84738a-cf7a-4a77-ad75-1dfd122b8b53	9e076e01-70de-4838-93e2-3dd3b262ee64	g.chr7:89856666C>G	ENST00000287908.3	+	3	1267	c.874C>G	c.(874-876)Cca>Gca	p.P292A	STEAP2_ENST00000394621.2_Missense_Mutation_p.P292A|STEAP2_ENST00000394632.1_Missense_Mutation_p.P292A|STEAP2_ENST00000394629.2_Missense_Mutation_p.P292A|STEAP2_ENST00000402625.2_Missense_Mutation_p.P292A|STEAP2_ENST00000394622.2_Missense_Mutation_p.P292A|STEAP2_ENST00000394626.1_Missense_Mutation_p.P292A	NM_001244944.1|NM_152999.3	NP_001231873.1|NP_694544.2	Q8NFT2	STEA2_HUMAN	STEAP family member 2, metalloreductase	292	Ferric oxidoreductase.				electron transport chain|endocytosis|Golgi to plasma membrane transport|ion transport|iron ion homeostasis|regulated secretory pathway|response to hormone stimulus	cytosol|early endosome|endosome membrane|integral to Golgi membrane|plasma membrane|trans-Golgi network transport vesicle|vesicular fraction	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity|transporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	15	all_hematologic(106;0.112)					TAGGAGATTTCCACCTTGGTT	0.438													5	166					0	0	1	0	0	G	89856666	C	G	89856666	3	3	185	1	0	0	0	0	1	0	0	0	15334	855	30	5	880	5	STEAP2	7	89856666	Missense_Mutation	SNP	C	TCGA-F6-A8O4-01A-11D-A36O-08	13897291	89856666	69281997	18	24298											
RAB11FIP1	80223	broad.mit.edu	37	8	37729690	37729690	+	Missense_Mutation	SNP	G	G	A			TCGA-F6-A8O4-01A-11D-A36O-08	TCGA-F6-A8O4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b84738a-cf7a-4a77-ad75-1dfd122b8b53	9e076e01-70de-4838-93e2-3dd3b262ee64	g.chr8:37729690G>A	ENST00000330843.4	-	4	2642	c.2630C>T	c.(2629-2631)gCg>gTg	p.A877V	RAB11FIP1_ENST00000523182.1_5'UTR|RAB11FIP1_ENST00000287263.4_Intron|RAB11FIP1_ENST00000524118.1_Intron|RAB11FIP1_ENST00000522727.1_Intron	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 (class I)	877					protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding			NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			GGAGGCTGGCGCACCACACGT	0.617													5	36					0	0	1	0	0	A	37729690	G	A	37729690	3	1	185	1	0	0	0	0	1	0	0	0	12945	1087	38	1	1233	1	RAB11FIP1	8	37729690	Missense_Mutation	SNP	G	TCGA-F6-A8O4-01A-11D-A36O-08		37729690	108634332	19	24299											
TLE4	7091	broad.mit.edu	37	9	82336786	82336786	+	Missense_Mutation	SNP	C	C	T			TCGA-F6-A8O4-01A-11D-A36O-08	TCGA-F6-A8O4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b84738a-cf7a-4a77-ad75-1dfd122b8b53	9e076e01-70de-4838-93e2-3dd3b262ee64	g.chr9:82336786C>T	ENST00000376520.4	+	18	2893	c.2065C>T	c.(2065-2067)Cac>Tac	p.H689Y	TLE4_ENST00000376534.4_Missense_Mutation_p.H294Y|TLE4_ENST00000376552.2_Missense_Mutation_p.H657Y|TLE4_ENST00000376537.4_Missense_Mutation_p.H689Y|TLE4_ENST00000265284.6_Missense_Mutation_p.H632Y|TLE4_ENST00000376544.3_Missense_Mutation_p.H588Y	NM_001282748.1	NP_001269677.1	O60756	BCE1_HUMAN	transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila)	0										breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						GCTGCAGCAGCACGACTTCAC	0.557													9	36					0	0	1	0	0	T	82336786	C	T	82336786	3	4	185	1	0	0	0	0	1	0	0	0	16001	710	25	2	2035	2	TLE4	9	82336786	Missense_Mutation	SNP	C	TCGA-F6-A8O4-01A-11D-A36O-08		82336786	58876645	20	24300											
UBQLN1	29979	broad.mit.edu	37	9	86284200	86284200	+	Missense_Mutation	SNP	T	T	C			TCGA-F6-A8O4-01A-11D-A36O-08	TCGA-F6-A8O4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b84738a-cf7a-4a77-ad75-1dfd122b8b53	9e076e01-70de-4838-93e2-3dd3b262ee64	g.chr9:86284200T>C	ENST00000376395.4	-	7	1671	c.1148A>G	c.(1147-1149)cAa>cGa	p.Q383R	UBQLN1_ENST00000257468.7_Missense_Mutation_p.Q383R	NM_013438.4|NM_053067.2	NP_038466.2|NP_444295.1	Q9UMX0	UBQL1_HUMAN	ubiquilin 1	383					apoptosis|regulation of protein ubiquitination|response to hypoxia	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm|proteasome complex	kinase binding			breast(4)|endometrium(2)|kidney(4)|large_intestine(6)|lung(10)|prostate(1)	27						TTCAGTTATTTGTTGCAACAA	0.378													9	26					0	0	1	0	0	C	86284200	T	C	86284200	3	2	185	1	0	0	0	0	1	0	0	0	16957	1812	63	3	641	3	UBQLN1	9	86284200	Missense_Mutation	SNP	T	TCGA-F6-A8O4-01A-11D-A36O-08	3947414	86284200	54929231	21	24301											
NLRP14	338323	broad.mit.edu	37	11	7067952	7067952	+	Missense_Mutation	SNP	C	C	A			TCGA-F6-A8O4-01A-11D-A36O-08	TCGA-F6-A8O4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b84738a-cf7a-4a77-ad75-1dfd122b8b53	9e076e01-70de-4838-93e2-3dd3b262ee64	g.chr11:7067952C>A	ENST00000299481.4	+	5	2358	c.2012C>A	c.(2011-2013)aCa>aAa	p.T671K		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	671					cell differentiation|multicellular organismal development|spermatogenesis		ATP binding			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		GTGCTTCATACAAATGAACAC	0.368													26	114					9.86323e-18	1.02658e-17	1	1	0	A	7067952	C	A	7067952	3	1	185	1	0	0	0	0	1	0	0	0	10523	478	17	5	2026	5	NLRP14	11	7067952	Missense_Mutation	SNP	C	TCGA-F6-A8O4-01A-11D-A36O-08		7067952	127938564	22	24302											
TPH1	7166	broad.mit.edu	37	11	18051095	18051095	+	Missense_Mutation	SNP	C	C	T			TCGA-F6-A8O4-01A-11D-A36O-08	TCGA-F6-A8O4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b84738a-cf7a-4a77-ad75-1dfd122b8b53	9e076e01-70de-4838-93e2-3dd3b262ee64	g.chr11:18051095C>T	ENST00000250018.2	-	4	996	c.434G>A	c.(433-435)cGa>cAa	p.R145Q	TPH1_ENST00000341556.2_Missense_Mutation_p.R145Q	NM_004179.2	NP_004170.1	P17752	TPH1_HUMAN	tryptophan hydroxylase 1	145					aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(14)|prostate(1)|stomach(1)	25					L-Tryptophan(DB00150)|Tetrahydrobiopterin(DB00360)	AAAATACTTTCGACGTTTACG	0.264													6	135					0	0	1	0	0	T	18051095	C	T	18051095	3	4	185	1	0	0	0	0	1	0	0	0	16462	884	31	1	928	1	TPH1	11	18051095	Missense_Mutation	SNP	C	TCGA-F6-A8O4-01A-11D-A36O-08	10983143	18051095	116955421	23	24303											
PDE2A	5138	broad.mit.edu	37	11	72290400	72290400	+	Missense_Mutation	SNP	G	G	A			TCGA-F6-A8O4-01A-11D-A36O-08	TCGA-F6-A8O4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b84738a-cf7a-4a77-ad75-1dfd122b8b53	9e076e01-70de-4838-93e2-3dd3b262ee64	g.chr11:72290400G>A	ENST00000334456.5	-	27	2529	c.2284C>T	c.(2284-2286)Cgg>Tgg	p.R762W	PDE2A_ENST00000418754.2_Missense_Mutation_p.R647W|PDE2A_ENST00000376450.3_Missense_Mutation_p.R506W|PDE2A_ENST00000444035.2_Missense_Mutation_p.R753W|PDE2A_ENST00000540345.1_Missense_Mutation_p.R753W|PDE2A_ENST00000544570.1_Missense_Mutation_p.R755W	NM_002599.4	NP_002590.1	O00408	PDE2A_HUMAN	phosphodiesterase 2A, cGMP-stimulated	762	Catalytic (By similarity).				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity|metal ion binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	36			BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		Sildenafil(DB00203)|Sulindac(DB00605)	ATGATGTCCCGCATCAGATCC	0.607													3	40					0	0	1	0	0	A	72290400	G	A	72290400	3	1	185	1	0	0	0	0	1	0	0	0	11683	1086	38	1	561	1	PDE2A	11	72290400	Missense_Mutation	SNP	G	TCGA-F6-A8O4-01A-11D-A36O-08	54239305	72290400	62716116	24	24304											
MMP10	4319	broad.mit.edu	37	11	102647464	102647464	+	Silent	SNP	G	G	T			TCGA-F6-A8O4-01A-11D-A36O-08	TCGA-F6-A8O4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b84738a-cf7a-4a77-ad75-1dfd122b8b53	9e076e01-70de-4838-93e2-3dd3b262ee64	g.chr11:102647464G>T	ENST00000279441.4	-	5	702	c.666C>A	c.(664-666)tcC>tcA	p.S222S		NM_002425.2	NP_002416.1	P09238	MMP10_HUMAN	matrix metallopeptidase 10 (stromelysin 2)	222					collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|liver(2)|lung(6)	22	all_epithelial(12;0.00961)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0303)|Lung(13;0.0828)|all cancers(10;0.116)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0145)		AGAGCCCCAGGGAGTGGCCAA	0.453													17	40					6.94344e-10	7.08231e-10	1	1	0	T	102647464	G	T	102647464	2	4	185	1	0	0	0	0	0	0	0	1	9697	1219	43	5		5	MMP10	11	102647464	Silent	SNP	G	TCGA-F6-A8O4-01A-11D-A36O-08	30357064	102647464	32359052	25	24305											
GPC5	2262	broad.mit.edu	37	13	92560208	92560208	+	Missense_Mutation	SNP	T	T	C			TCGA-F6-A8O4-01A-11D-A36O-08	TCGA-F6-A8O4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b84738a-cf7a-4a77-ad75-1dfd122b8b53	9e076e01-70de-4838-93e2-3dd3b262ee64	g.chr13:92560208T>C	ENST00000377067.3	+	6	1670	c.1298T>C	c.(1297-1299)gTt>gCt	p.V433A		NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN	glypican 5	433						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				CAGCGTGTGGTTGGAAATGGA	0.383													3	47					0	0	1	0	0	C	92560208	T	C	92560208	3	2	185	1	0	0	0	0	1	0	0	0	6641	1725	60	3	1320	3	GPC5	13	92560208	Missense_Mutation	SNP	T	TCGA-F6-A8O4-01A-11D-A36O-08		92560208	22609670	26	24306											
NOVA1	4857	broad.mit.edu	37	14	26917177	26917178	+	Frame_Shift_Ins	INS	-	-	G			TCGA-F6-A8O4-01A-11D-A36O-08	TCGA-F6-A8O4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b84738a-cf7a-4a77-ad75-1dfd122b8b53	9e076e01-70de-4838-93e2-3dd3b262ee64	g.chr14:26917177_26917178insG	ENST00000539517.2	-	5	1828_1829	c.1511_1512insC	c.(1510-1512)cagfs	p.Q504fs	NOVA1_ENST00000465357.2_Frame_Shift_Ins_p.Q480fs|NOVA1_ENST00000267422.7_Frame_Shift_Ins_p.Q382fs	NM_002515.2	NP_002506.2	P51513	NOVA1_HUMAN	neuro-oncological ventral antigen 1	507					locomotory behavior|RNA splicing|synaptic transmission	nucleus	RNA binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(265;0.0135)		AACCCACTTTCTGAGGATTGGC	0.431													19	43	---	---	---	---						G	26917178	-	G	26917177	7	5	185	1	0	1	1	0	0	0	0	0	10601	912	32	0	15	0	NOVA1	14	26917177	Frame_Shift_Ins	INS	-	TCGA-F6-A8O4-01A-11D-A36O-08		26917177	80432363	27	24307											
SPTLC2	9517	broad.mit.edu	37	14	77984443	77984443	+	Missense_Mutation	SNP	T	T	C			TCGA-F6-A8O4-01A-11D-A36O-08	TCGA-F6-A8O4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b84738a-cf7a-4a77-ad75-1dfd122b8b53	9e076e01-70de-4838-93e2-3dd3b262ee64	g.chr14:77984443T>C	ENST00000216484.2	-	11	1700	c.1507A>G	c.(1507-1509)Att>Gtt	p.I503V		NM_004863.3	NP_004854.1	O15270	SPTC2_HUMAN	serine palmitoyltransferase, long chain base subunit 2	503						integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups			kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(5)	19			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0346)	L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	GACTCAATAATTGGGGTGGCA	0.463													25	41					0	0	1	0	0	C	77984443	T	C	77984443	3	2	185	1	0	0	0	0	1	0	0	0	15180	1493	52	3	189	3	SPTLC2	14	77984443	Missense_Mutation	SNP	T	TCGA-F6-A8O4-01A-11D-A36O-08	51067266	77984443	29365097	28	24308											
HERC1	8925	broad.mit.edu	37	15	63967167	63967167	+	Missense_Mutation	SNP	C	C	T			TCGA-F6-A8O4-01A-11D-A36O-08	TCGA-F6-A8O4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b84738a-cf7a-4a77-ad75-1dfd122b8b53	9e076e01-70de-4838-93e2-3dd3b262ee64	g.chr15:63967167C>T	ENST00000443617.2	-	38	7307	c.7220G>A	c.(7219-7221)gGc>gAc	p.G2407D		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	2407					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						GCTCTGTTTGCCCATGTCTTC	0.502													45	97					0	0	1	0	0	T	63967167	C	T	63967167	3	4	185	1	0	0	0	0	1	0	0	0	7098	739	26	2	7529	2	HERC1	15	63967167	Missense_Mutation	SNP	C	TCGA-F6-A8O4-01A-11D-A36O-08		63967167	38564225	29	24309											
RAB40C	57799	broad.mit.edu	37	16	677517	677517	+	Silent	SNP	C	C	T			TCGA-F6-A8O4-01A-11D-A36O-08	TCGA-F6-A8O4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b84738a-cf7a-4a77-ad75-1dfd122b8b53	9e076e01-70de-4838-93e2-3dd3b262ee64	g.chr16:677517C>T	ENST00000535977.1	+	7	963	c.741C>T	c.(739-741)gcC>gcT	p.A247A	RAB40C_ENST00000539661.1_Silent_p.A247A|RAB40C_ENST00000538492.1_Silent_p.A247A|RAB40C_ENST00000248139.3_Silent_p.A247A	NM_001172663.1	NP_001166134.1	Q96S21	RB40C_HUMAN	RAB40C, member RAS oncogene family	247					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding			NS(1)|endometrium(2)|large_intestine(1)|lung(1)|prostate(1)	6		Hepatocellular(780;0.0218)				CCAGCGGGGCCGGGGGCGGCG	0.642													4	86					0	0	1	0	0	T	677517	C	T	677517	2	4	185	1	0	0	0	0	0	0	0	1	12994	639	23	1		1	RAB40C	16	677517	Silent	SNP	C	TCGA-F6-A8O4-01A-11D-A36O-08		677517	89677236	30	24310											
TP53	7157	broad.mit.edu	37	17	7578406	7578406	+	Missense_Mutation	SNP	C	C	T	rs28934578		TCGA-F6-A8O4-01A-11D-A36O-08	TCGA-F6-A8O4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b84738a-cf7a-4a77-ad75-1dfd122b8b53	9e076e01-70de-4838-93e2-3dd3b262ee64	g.chr17:7578406C>T	ENST00000420246.2	-	5	656	c.524G>A	c.(523-525)cGc>cAc	p.R175H	TP53_ENST00000455263.2_Missense_Mutation_p.R175H|TP53_ENST00000413465.2_Missense_Mutation_p.R175H|TP53_ENST00000269305.4_Missense_Mutation_p.R175H|TP53_ENST00000445888.2_Missense_Mutation_p.R175H|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000359597.4_Missense_Mutation_p.R175H	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	175	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> C (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; dbSNP:rs28934578).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> 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.R175H(847)|p.R43H(36)|p.R82H(36)|p.R175L(19)|p.0?(8)|p.R175P(6)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*5(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(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)		GTGGGGGCAGCGCCTCACAAC	0.652	R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY)	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)			26	45					0	0	1	0	0	T	7578406	C	T	7578406	3	4	185	1	0	0	0	0	1	0	0	0	16442	768	27	1	774	1	TP53	17	7578406	Missense_Mutation	SNP	C	TCGA-F6-A8O4-01A-11D-A36O-08		7578406	73616804	31	24311											
TP53	7157	broad.mit.edu	37	17	7578538	7578538	+	Missense_Mutation	SNP	T	T	C			TCGA-F6-A8O4-01A-11D-A36O-08	TCGA-F6-A8O4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b84738a-cf7a-4a77-ad75-1dfd122b8b53	9e076e01-70de-4838-93e2-3dd3b262ee64	g.chr17:7578538T>C	ENST00000420246.2	-	5	524	c.392A>G	c.(391-393)aAc>aGc	p.N131S	TP53_ENST00000455263.2_Missense_Mutation_p.N131S|TP53_ENST00000413465.2_Missense_Mutation_p.N131S|TP53_ENST00000269305.4_Missense_Mutation_p.N131S|TP53_ENST00000445888.2_Missense_Mutation_p.N131S|TP53_ENST00000359597.4_Missense_Mutation_p.N131S	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	131	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		N -> D (in a sporadic cancer; somatic mutation).|N -> H (in sporadic cancers; somatic mutation).|N -> I (in sporadic cancers; somatic mutation).|N -> K (in sporadic cancers; somatic mutation).|N -> S (in sporadic cancers; somatic mutation).|N -> T (in a sporadic cancer; somatic mutation).|N -> Y (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.0?(8)|p.N131del(8)|p.N131I(7)|p.Y126_K132delYSPALNK(6)|p.Y126_N131delYSPALN(3)|p.N131S(3)|p.N131fs*27(2)|p.V73fs*9(1)|p.S127fs*36(1)|p.A129_K132delALNK(1)|p.Y126fs*11(1)|p.S127_Q136del10(1)|p.L130_M133delLNKM(1)|p.A129_N131delALN(1)|p.L130fs*16(1)|p.N131T(1)|p.N38I(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)		AAACATCTTGTTGAGGGCAGG	0.557		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)			13	21					0	0	1	0	0	C	7578538	T	C	7578538	3	2	185	1	0	0	0	0	1	0	0	0	16442	1725	60	3	906	3	TP53	17	7578538	Missense_Mutation	SNP	T	TCGA-F6-A8O4-01A-11D-A36O-08	132	7578538	73616672	32	24312											
PTRF	284119	broad.mit.edu	37	17	40557199	40557199	+	Missense_Mutation	SNP	G	G	A	rs145869708		TCGA-F6-A8O4-01A-11D-A36O-08	TCGA-F6-A8O4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b84738a-cf7a-4a77-ad75-1dfd122b8b53	9e076e01-70de-4838-93e2-3dd3b262ee64	g.chr17:40557199G>A	ENST00000357037.5	-	2	1098	c.679C>T	c.(679-681)Cgg>Tgg	p.R227W		NM_012232.5	NP_036364.2	Q6NZI2	PTRF_HUMAN	polymerase I and transcript release factor	227					regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription initiation from RNA polymerase I promoter	caveola|cytosol|endoplasmic reticulum|microsome|mitochondrion|nucleoplasm	protein binding|rRNA primary transcript binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1)	17		all_cancers(22;0.00146)|Breast(137;0.00116)|all_epithelial(22;0.0134)		BRCA - Breast invasive adenocarcinoma(366;0.193)		TCCACGCGCCGCAGGCCGCTG	0.622													4	105					0	0	1	0	0	A	40557199	G	A	40557199	3	1	185	1	0	0	0	0	1	0	0	0	12867	1086	38	1	497	1	PTRF	17	40557199	Missense_Mutation	SNP	G	TCGA-F6-A8O4-01A-11D-A36O-08	32978661	40557199	40638011	33	24313											
ATP8B3	148229	broad.mit.edu	37	19	1788945	1788945	+	Missense_Mutation	SNP	C	C	T			TCGA-F6-A8O4-01A-11D-A36O-08	TCGA-F6-A8O4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b84738a-cf7a-4a77-ad75-1dfd122b8b53	9e076e01-70de-4838-93e2-3dd3b262ee64	g.chr19:1788945C>T	ENST00000539485.1	-	24	3283	c.3050G>A	c.(3049-3051)aGc>aAc	p.S1017N	ATP8B3_ENST00000525591.1_Missense_Mutation_p.S970N|ATP8B3_ENST00000310127.6_Missense_Mutation_p.S1007N			O60423	AT8B3_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 3	1007					ATP biosynthetic process		ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23		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)		CACCATCATGCTGGCCATGCT	0.632													3	14					0	0	1	0	0	T	1788945	C	T	1788945	3	4	185	1	0	0	0	0	1	0	0	0	1194	797	28	2	906	2	ATP8B3	19	1788945	Missense_Mutation	SNP	C	TCGA-F6-A8O4-01A-11D-A36O-08		1788945	57340038	34	24314											
MUC16	94025	broad.mit.edu	37	19	9015351	9015351	+	Missense_Mutation	SNP	G	G	A	rs150789116	by1000genomes	TCGA-F6-A8O4-01A-11D-A36O-08	TCGA-F6-A8O4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b84738a-cf7a-4a77-ad75-1dfd122b8b53	9e076e01-70de-4838-93e2-3dd3b262ee64	g.chr19:9015351G>A	ENST00000397910.4	-	30	38440	c.38237C>T	c.(38236-38238)cCt>cTt	p.P12746L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12748	SEA 5.			Missing (in Ref. 3; AAK74120).	cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGAGTACAGAGGGCCAACACT	0.512													3	59					0	0	1	0	0	A	9015351	G	A	9015351	3	1	185	1	0	0	0	0	1	0	0	0	10021	1000	35	2	5506	2	MUC16	19	9015351	Missense_Mutation	SNP	G	TCGA-F6-A8O4-01A-11D-A36O-08	7226406	9015351	50113632	35	24315											
NLRP2	55655	broad.mit.edu	37	19	55495054	55495054	+	Missense_Mutation	SNP	C	C	T			TCGA-F6-A8O4-01A-11D-A36O-08	TCGA-F6-A8O4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b84738a-cf7a-4a77-ad75-1dfd122b8b53	9e076e01-70de-4838-93e2-3dd3b262ee64	g.chr19:55495054C>T	ENST00000543010.1	+	6	2131	c.1988C>T	c.(1987-1989)cCg>cTg	p.P663L	NLRP2_ENST00000538819.1_Missense_Mutation_p.P639L|NLRP2_ENST00000339757.7_Missense_Mutation_p.P641L|NLRP2_ENST00000537859.1_Missense_Mutation_p.P641L|NLRP2_ENST00000263437.6_Missense_Mutation_p.P660L|NLRP2_ENST00000427260.2_Missense_Mutation_p.P640L|NLRP2_ENST00000448584.2_Missense_Mutation_p.P663L|NLRP2_ENST00000391721.4_Missense_Mutation_p.P639L	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	663					apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		GAGAATCTCCCGGAGAATGTC	0.493													14	29					0	0	1	0	0	T	55495054	C	T	55495054	3	4	185	1	0	0	0	0	1	0	0	0	10524	652	23	1	2006	1	NLRP2	19	55495054	Missense_Mutation	SNP	C	TCGA-F6-A8O4-01A-11D-A36O-08	46479703	55495054	3633929	36	24316											
PHF5A	84844	broad.mit.edu	37	22	41863526	41863526	+	Missense_Mutation	SNP	G	G	A			TCGA-F6-A8O4-01A-11D-A36O-08	TCGA-F6-A8O4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b84738a-cf7a-4a77-ad75-1dfd122b8b53	9e076e01-70de-4838-93e2-3dd3b262ee64	g.chr22:41863526G>A	ENST00000216252.3	-	3	240	c.169C>T	c.(169-171)Cgc>Tgc	p.R57C	PHF5A_ENST00000491254.1_5'UTR	NM_032758.3	NP_116147.1	Q7RTV0	PHF5A_HUMAN	PHD finger protein 5A	57					nuclear mRNA splicing, via spliceosome|positive regulation of transcription, DNA-dependent	nuclear speck|U12-type spliceosomal complex|U2 snRNP	DNA binding|sequence-specific DNA binding transcription factor activity	p.R57S(1)		central_nervous_system(1)|large_intestine(2)|lung(1)	4						ATCACACAGCGCCCCTGGTAA	0.507													8	20					0	0	1	0	0	A	41863526	G	A	41863526	3	1	185	1	0	0	0	0	1	0	0	0	11885	1087	38	1	171	1	PHF5A	22	41863526	Missense_Mutation	SNP	G	TCGA-F6-A8O4-01A-11D-A36O-08		41863526	9441040	37	24317											
CSF2RA	1438	broad.mit.edu	37	X	1409341	1409341	+	Silent	SNP	C	C	T	rs140515543		TCGA-F6-A8O4-01A-11D-A36O-08	TCGA-F6-A8O4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b84738a-cf7a-4a77-ad75-1dfd122b8b53	9e076e01-70de-4838-93e2-3dd3b262ee64	g.chrX:1409341C>T	ENST00000381524.3	+	7	771	c.585C>T	c.(583-585)aaC>aaT	p.N195N	CSF2RA_ENST00000381529.3_Silent_p.N195N|CSF2RA_ENST00000432318.2_Silent_p.N195N|CSF2RA_ENST00000355805.2_Silent_p.N195N|CSF2RA_ENST00000494969.2_Intron|CSF2RA_ENST00000381509.3_Silent_p.N195N|CSF2RA_ENST00000501036.2_Silent_p.N62N|CSF2RA_ENST00000355432.3_Silent_p.N195N|CSF2RA_ENST00000381500.1_Silent_p.N195N|CSF2RA_ENST00000417535.2_Silent_p.N195N|CSF2RA_ENST00000361536.3_Silent_p.N195N			P15509	CSF2R_HUMAN	colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)	195						extracellular region|integral to plasma membrane	cytokine receptor activity			central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	TTCTGGTTAACGGAACCAGCC	0.398													108	212					0	0	1	0	0	T	1409341	C	T	1409341	2	4	185	1	0	0	0	0	0	0	0	1	3959	535	19	1		1	CSF2RA	23	1409341	Silent	SNP	C	TCGA-F6-A8O4-01A-11D-A36O-08		1409341	153861219	38	24318											
ATRX	546	broad.mit.edu	37	X	76939666	76939669	+	Frame_Shift_Del	DEL	TCAA	TCAA	-			TCGA-F6-A8O4-01A-11D-A36O-08	TCGA-F6-A8O4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b84738a-cf7a-4a77-ad75-1dfd122b8b53	9e076e01-70de-4838-93e2-3dd3b262ee64	g.chrX:76939666_76939669delTCAA	ENST00000373344.5	-	9	1293_1296	c.1079_1082delTTGA	c.(1078-1083)attgagfs	p.IE360fs	ATRX_ENST00000395603.3_Frame_Shift_Del_p.IE322fs|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	360					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)	GGCTGTGGTCTCAATCAGTTTTTT	0.368			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						72	23	---	---	---	---						-	76939669	TCAA	-	76939666	7	5	185	1	0	1	0	1	0	0	0	0	1206	1551	54	0	6504	0	ATRX	23	76939666	Frame_Shift_Del	DEL	TCAA	TCGA-F6-A8O4-01A-11D-A36O-08	75530325	76939666	78330894	39	24319											
ARID1A	8289	broad.mit.edu	37	1	27059237	27059237	+	Frame_Shift_Del	DEL	A	A	-			TCGA-FG-5962-01B-11D-1893-08	TCGA-FG-5962-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28e93aff-9ec4-4fcf-a469-74d8b6190991	57a1f9a5-e7cd-478d-b678-8e1992d9b223	g.chr1:27059237delA	ENST00000324856.7	+	4	2245	c.1874delA	c.(1873-1875)caafs	p.Q625fs	ARID1A_ENST00000457599.2_Frame_Shift_Del_p.Q625fs|ARID1A_ENST00000374152.2_Frame_Shift_Del_p.Q242fs	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	625					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		AAGGGAGGGCAAGAAGATATG	0.488			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"								19	90	---	---	---	---						-	27059237	A	-	27059237	7	5	186	1	0	1	0	1	0	0	0	0	910	130	5	0	1888	0	ARID1A	1	27059237	Frame_Shift_Del	DEL	A	TCGA-FG-5962-01B-11D-1893-08		27059237	222191384	1	24320											
HRNR	388697	broad.mit.edu	37	1	152193268	152193268	+	Silent	SNP	C	C	T	rs150466362		TCGA-FG-5962-01B-11D-1893-08	TCGA-FG-5962-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28e93aff-9ec4-4fcf-a469-74d8b6190991	57a1f9a5-e7cd-478d-b678-8e1992d9b223	g.chr1:152193268C>T	ENST00000368801.2	-	3	912	c.837G>A	c.(835-837)tcG>tcA	p.S279S	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	279					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGCTGGAAGACGAACCTGAGC	0.577													37	560					0	0	0.006999	0	0	T	152193268	C	T	152193268	2	4	186	1	0	0	0	0	0	0	0	1	7400	523	19	1		1	HRNR	1	152193268	Silent	SNP	C	TCGA-FG-5962-01B-11D-1893-08	125134031	152193268	97057353	2	24321											
CCDC88A	55704	broad.mit.edu	37	2	55544946	55544946	+	Missense_Mutation	SNP	G	G	T			TCGA-FG-5962-01B-11D-1893-08	TCGA-FG-5962-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28e93aff-9ec4-4fcf-a469-74d8b6190991	57a1f9a5-e7cd-478d-b678-8e1992d9b223	g.chr2:55544946G>T	ENST00000436346.1	-	20	4197	c.3356C>A	c.(3355-3357)aCc>aAc	p.T1119N	CCDC88A_ENST00000336838.6_Missense_Mutation_p.T1118N|AC012358.8_ENST00000594078.1_RNA|AC012358.8_ENST00000599475.1_RNA|CCDC88A_ENST00000263630.8_Missense_Mutation_p.T1119N|CCDC88A_ENST00000413716.2_Missense_Mutation_p.T1118N|AC012358.8_ENST00000599352.1_RNA|AC012358.8_ENST00000608103.1_RNA|AC012358.8_ENST00000600219.1_RNA	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A	1119					activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade	cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						CATGAGTGAGGTACTTTGGGA	0.333													13	87					0.000219431	0.000343776	0.020292	1	0	T	55544946	G	T	55544946	3	4	186	1	0	0	0	0	1	0	0	0	2883	1261	44	5	2311	5	CCDC88A	2	55544946	Missense_Mutation	SNP	G	TCGA-FG-5962-01B-11D-1893-08		55544946	187654427	3	24322											
GPAT2	150763	broad.mit.edu	37	2	96691942	96691942	+	Missense_Mutation	SNP	A	A	G			TCGA-FG-5962-01B-11D-1893-08	TCGA-FG-5962-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28e93aff-9ec4-4fcf-a469-74d8b6190991	57a1f9a5-e7cd-478d-b678-8e1992d9b223	g.chr2:96691942A>G	ENST00000434632.1	-	12	1603	c.1144T>C	c.(1144-1146)Ttt>Ctt	p.F382L	GPAT2_ENST00000359548.4_Missense_Mutation_p.F382L|GPAT2_ENST00000453542.1_Missense_Mutation_p.F311L|GPAT2_ENST00000377137.3_Missense_Mutation_p.F382L			Q6NUI2	GPAT2_HUMAN	glycerol-3-phosphate acyltransferase 2, mitochondrial	382					glycerol-3-phosphate metabolic process|phospholipid biosynthetic process|triglyceride biosynthetic process	integral to membrane|mitochondrial outer membrane	glycerol-3-phosphate O-acyltransferase activity			NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(1)|lung(5)|skin(3)	16						TGCAGGGAAAAGGGCTGAGCT	0.647													3	81					0	0	0.004672	0	0	G	96691942	A	G	96691942	3	3	186	1	0	0	0	0	1	0	0	0	6629	72	3	3	1291	3	GPAT2	2	96691942	Missense_Mutation	SNP	A	TCGA-FG-5962-01B-11D-1893-08	41146996	96691942	146507431	4	24323											
TFPI	7035	broad.mit.edu	37	2	188332562	188332562	+	Silent	SNP	G	G	A			TCGA-FG-5962-01B-11D-1893-08	TCGA-FG-5962-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28e93aff-9ec4-4fcf-a469-74d8b6190991	57a1f9a5-e7cd-478d-b678-8e1992d9b223	g.chr2:188332562G>A	ENST00000233156.3	-	7	1020	c.726C>T	c.(724-726)tgC>tgT	p.C242C	AC007319.1_ENST00000412276.1_RNA|TFPI_ENST00000392365.1_Silent_p.C242C|AC007319.1_ENST00000453517.1_RNA	NM_006287.4	NP_006278.1	P10646	TFPI1_HUMAN	tissue factor pathway inhibitor (lipoprotein-associated coagulation inhibitor)	242	BPTI/Kunitz inhibitor 3.				blood coagulation, extrinsic pathway	extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.0554)		Coagulation factor VIIa(DB00036)	TAAATGGGCGGCATTTCCCAA	0.418													4	99					0	0	0.009096	0	0	A	188332562	G	A	188332562	2	1	186	1	0	0	0	0	0	0	0	1	15868	1195	42	2		2	TFPI	2	188332562	Silent	SNP	G	TCGA-FG-5962-01B-11D-1893-08	91640620	188332562	54866811	5	24324											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-FG-5962-01B-11D-1893-08	TCGA-FG-5962-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28e93aff-9ec4-4fcf-a469-74d8b6190991	57a1f9a5-e7cd-478d-b678-8e1992d9b223	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								29	66					0	0	0.012213	0	0	T	209113112	C	T	209113112	3	4	186	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-FG-5962-01B-11D-1893-08	20780550	209113112	34086261	6	24325											
UGT1A6	54578	broad.mit.edu	37	2	234681041	234681041	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-5962-01B-11D-1893-08	TCGA-FG-5962-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28e93aff-9ec4-4fcf-a469-74d8b6190991	57a1f9a5-e7cd-478d-b678-8e1992d9b223	g.chr2:234681041G>A	ENST00000305139.6	+	5	1574	c.1435G>A	c.(1435-1437)Gac>Aac	p.D479N	UGT1A1_ENST00000609637.1_Missense_Mutation_p.D477N|UGT1A1_ENST00000608381.1_Missense_Mutation_p.D481N|UGT1A7_ENST00000373426.3_Missense_Mutation_p.D477N|UGT1A8_ENST00000305208.5_Missense_Mutation_p.D480N|UGT1A1_ENST00000609767.1_Missense_Mutation_p.D481N|UGT1A10_ENST00000344644.5_Missense_Mutation_p.D477N|UGT1A6_ENST00000373424.1_Missense_Mutation_p.D212N|UGT1A1_ENST00000608383.1_Missense_Mutation_p.D480N|UGT1A5_ENST00000373414.3_Missense_Mutation_p.D481N|UGT1A4_ENST00000373409.3_Missense_Mutation_p.D481N|UGT1A1_ENST00000373450.4_Missense_Mutation_p.D477N|UGT1A9_ENST00000354728.4_Missense_Mutation_p.D477N|UGT1A3_ENST00000482026.1_Missense_Mutation_p.D481N	NM_001072.3	NP_001063.2														central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;5.86e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000384)|Lung(119;0.00306)|LUSC - Lung squamous cell carcinoma(224;0.00702)		CGCAGCCCACGACCTCACCTG	0.597													5	224					0	0	0.001168	0	0	A	234681041	G	A	234681041	3	1	186	1	0	0	0	0	1	0	0	0	17009	1058	37	1	1453	1	UGT1A6	2	234681041	Missense_Mutation	SNP	G	TCGA-FG-5962-01B-11D-1893-08	25567929	234681041	8518332	7	24326											
KCNH8	131096	broad.mit.edu	37	3	19554646	19554646	+	Missense_Mutation	SNP	A	A	C			TCGA-FG-5962-01B-11D-1893-08	TCGA-FG-5962-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28e93aff-9ec4-4fcf-a469-74d8b6190991	57a1f9a5-e7cd-478d-b678-8e1992d9b223	g.chr3:19554646A>C	ENST00000328405.2	+	13	2530	c.2264A>C	c.(2263-2265)cAa>cCa	p.Q755P		NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	755						integral to membrane	two-component sensor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						AGCTTAAAGCAACTGGCCTCG	0.517													4	135					0	0	0.009096	0	0	C	19554646	A	C	19554646	3	2	186	1	0	0	0	0	1	0	0	0	8082	130	5	5	2314	5	KCNH8	3	19554646	Missense_Mutation	SNP	A	TCGA-FG-5962-01B-11D-1893-08		19554646	178467784	8	24327											
C3orf30	152405	broad.mit.edu	37	3	118870125	118870125	+	Silent	SNP	C	C	T			TCGA-FG-5962-01B-11D-1893-08	TCGA-FG-5962-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28e93aff-9ec4-4fcf-a469-74d8b6190991	57a1f9a5-e7cd-478d-b678-8e1992d9b223	g.chr3:118870125C>T	ENST00000295622.1	+	3	1637	c.1597C>T	c.(1597-1599)Ctg>Ttg	p.L533L	RP11-484M3.5_ENST00000490594.1_Intron	NM_152539.2	NP_689752.2	Q96M34	CC030_HUMAN	chromosome 3 open reading frame 30	533										NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(20)|ovary(2)|prostate(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(114;0.222)		GAATTTTATGCTGTGCCAGGT	0.363													4	283					0	0	0.014758	0	0	T	118870125	C	T	118870125	2	4	186	1	0	0	0	0	0	0	0	1	2234	796	28	2		2	C3orf30	3	118870125	Silent	SNP	C	TCGA-FG-5962-01B-11D-1893-08	99315479	118870125	79152305	9	24328											
GTF2E1	2960	broad.mit.edu	37	3	120489647	120489647	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-5962-01B-11D-1893-08	TCGA-FG-5962-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28e93aff-9ec4-4fcf-a469-74d8b6190991	57a1f9a5-e7cd-478d-b678-8e1992d9b223	g.chr3:120489647G>A	ENST00000283875.5	+	3	614	c.521G>A	c.(520-522)cGc>cAc	p.R174H		NM_005513.2	NP_005504.2	P29083	T2EA_HUMAN	general transcription factor IIE, polypeptide 1, alpha 56kDa	174					interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	nucleoplasm	protein binding|zinc ion binding			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)	22				GBM - Glioblastoma multiforme(114;0.159)		AAAGATGCACGCACACTTTTG	0.423													50	330					0	0	0.01441	0	0	A	120489647	G	A	120489647	3	1	186	1	0	0	0	0	1	0	0	0	6897	1087	38	1	527	1	GTF2E1	3	120489647	Missense_Mutation	SNP	G	TCGA-FG-5962-01B-11D-1893-08	1619522	120489647	77532783	10	24329											
GPR87	53836	broad.mit.edu	37	3	151012049	151012049	+	Missense_Mutation	SNP	A	A	T			TCGA-FG-5962-01B-11D-1893-08	TCGA-FG-5962-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28e93aff-9ec4-4fcf-a469-74d8b6190991	57a1f9a5-e7cd-478d-b678-8e1992d9b223	g.chr3:151012049A>T	ENST00000260843.4	-	3	1449	c.985T>A	c.(985-987)Tca>Aca	p.S329T	MED12L_ENST00000491549.1_Intron|MED12L_ENST00000474524.1_Intron|MED12L_ENST00000273432.4_Intron	NM_023915.3	NP_076404.3	Q9BY21	GPR87_HUMAN	G protein-coupled receptor 87	329						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(6)|large_intestine(6)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	19			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CTGATATTTGATTTTTTGAAC	0.358													7	163					0	0	0.001984	0	0	T	151012049	A	T	151012049	3	4	186	1	0	0	0	0	1	0	0	0	6756	333	12	4	95	4	GPR87	3	151012049	Missense_Mutation	SNP	A	TCGA-FG-5962-01B-11D-1893-08	30522402	151012049	47010381	11	24330											
PIK3CA	5290	broad.mit.edu	37	3	178951958	178951958	+	Missense_Mutation	SNP	A	A	G			TCGA-FG-5962-01B-11D-1893-08	TCGA-FG-5962-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28e93aff-9ec4-4fcf-a469-74d8b6190991	57a1f9a5-e7cd-478d-b678-8e1992d9b223	g.chr3:178951958A>G	ENST00000263967.3	+	21	3170	c.3013A>G	c.(3013-3015)Atg>Gtg	p.M1005V		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1005	PI3K/PI4K.				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.M1005V(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TTTCTCAATGATGCTTGGCTC	0.388		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			10	101					0	0	0.008291	0	0	G	178951958	A	G	178951958	3	3	186	1	0	0	0	0	1	0	0	0	11961	333	12	3	3091	3	PIK3CA	3	178951958	Missense_Mutation	SNP	A	TCGA-FG-5962-01B-11D-1893-08	27939909	178951958	19070472	12	24331											
SCD5	79966	broad.mit.edu	37	4	83557863	83557863	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-5962-01B-11D-1893-08	TCGA-FG-5962-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28e93aff-9ec4-4fcf-a469-74d8b6190991	57a1f9a5-e7cd-478d-b678-8e1992d9b223	g.chr4:83557863T>C	ENST00000319540.4	-	4	1002	c.683A>G	c.(682-684)tAt>tGt	p.Y228C		NM_001037582.2	NP_001032671.2	Q86SK9	SCD5_HUMAN	stearoyl-CoA desaturase 5	228					fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	iron ion binding|stearoyl-CoA 9-desaturase activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)	13		Colorectal(4;0.0323)|Hepatocellular(203;0.115)				TGAGATGGTATAGCGGAGAAT	0.562													7	66					0	0	0.001984	0	0	C	83557863	T	C	83557863	3	2	186	1	0	0	0	0	1	0	0	0	13940	1406	49	3	317	3	SCD5	4	83557863	Missense_Mutation	SNP	T	TCGA-FG-5962-01B-11D-1893-08		83557863	107596413	13	24332											
MOCS2	4338	broad.mit.edu	37	5	52402983	52402983	+	Missense_Mutation	SNP	A	A	G			TCGA-FG-5962-01B-11D-1893-08	TCGA-FG-5962-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28e93aff-9ec4-4fcf-a469-74d8b6190991	57a1f9a5-e7cd-478d-b678-8e1992d9b223	g.chr5:52402983A>G	ENST00000361377.4	-	3	250	c.209T>C	c.(208-210)cTc>cCc	p.L70P	MOCS2_ENST00000582677.1_Missense_Mutation_p.L70P|MOCS2_ENST00000527216.1_Missense_Mutation_p.L65P|MOCS2_ENST00000510818.2_Missense_Mutation_p.L70P|MOCS2_ENST00000450852.3_Missense_Mutation_p.L70P|MOCS2_ENST00000584946.1_Missense_Mutation_p.L70P|MOCS2_ENST00000396954.3_Missense_Mutation_p.S8P|MOCS2_ENST00000508922.1_Missense_Mutation_p.L70P			O96033	MOC2A_HUMAN	molybdenum cofactor synthesis 2	70					Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol|molybdopterin synthase complex	nucleotide binding			endometrium(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	5		Lung NSC(810;3.08e-05)|Breast(144;0.0848)				AAGCACGAGGAGCTGATCTCC	0.408													8	75					0	0	0.00308	0	0	G	52402983	A	G	52402983	3	3	186	1	0	0	0	0	1	0	0	0	9740	304	11	3	564	3	MOCS2	5	52402983	Missense_Mutation	SNP	A	TCGA-FG-5962-01B-11D-1893-08		52402983	128512277	14	24333											
PIK3R1	5295	broad.mit.edu	37	5	67589217	67589222	+	In_Frame_Del	DEL	TTGAAT	TTGAAT	-			TCGA-FG-5962-01B-11D-1893-08	TCGA-FG-5962-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28e93aff-9ec4-4fcf-a469-74d8b6190991	57a1f9a5-e7cd-478d-b678-8e1992d9b223	g.chr5:67589217_67589222delTTGAAT	ENST00000521381.1	+	10	1821_1826	c.1205_1210delTTGAAT	c.(1204-1212)gttgaatta>gta	p.EL403del	PIK3R1_ENST00000320694.8_In_Frame_Del_p.EL103del|PIK3R1_ENST00000336483.5_In_Frame_Del_p.EL133del|PIK3R1_ENST00000523872.1_In_Frame_Del_p.EL40del|PIK3R1_ENST00000396611.1_In_Frame_Del_p.EL403del|PIK3R1_ENST00000274335.5_In_Frame_Del_p.EL403del|PIK3R1_ENST00000521657.1_In_Frame_Del_p.EL403del	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	403	SH2 1.				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	AGTTCTGTGGTTGAATTAATAAACCA	0.335			"Mis, F, O"		"gliobastoma, ovarian, colorectal"					TCGA GBM(4;<1E-08)			24	43	---	---	---	---						-	67589222	TTGAAT	-	67589217	7	5	186	1	0	1	0	1	0	0	0	0	11966	1725	60	0	1369	0	PIK3R1	5	67589217	In_Frame_Del	DEL	TTGAAT	TCGA-FG-5962-01B-11D-1893-08	15186234	67589217	113326043	15	24334											
RHOBTB3	22836	broad.mit.edu	37	5	95119548	95119548	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FG-5962-01B-11D-1893-08	TCGA-FG-5962-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28e93aff-9ec4-4fcf-a469-74d8b6190991	57a1f9a5-e7cd-478d-b678-8e1992d9b223	g.chr5:95119548C>T	ENST00000379982.3	+	10	2012	c.1504C>T	c.(1504-1506)Caa>Taa	p.Q502*	RHOBTB3_ENST00000504179.1_Nonsense_Mutation_p.Q133*|GLRX_ENST00000507605.1_Intron|GLRX_ENST00000508780.1_Intron	NM_014899.3	NP_055714.3	O94955	RHBT3_HUMAN	Rho-related BTB domain containing 3	502	Interaction with Rab9.				retrograde transport, endosome to Golgi	Golgi apparatus	ATP binding|ATPase activity|Rab GTPase binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|skin(1)	16		all_cancers(142;2.58e-06)|all_epithelial(76;4.19e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0164)|Colorectal(57;0.0846)|Breast(839;0.198)		all cancers(79;8.79e-16)		CGAGATGTACCAAGTGTCCAG	0.468													14	197					0	0	0.007413	0	0	T	95119548	C	T	95119548	4	4	186	1	0	0	0	0	0	1	0	0	13385	595	21	2	1542	2	RHOBTB3	5	95119548	Nonsense_Mutation	SNP	C	TCGA-FG-5962-01B-11D-1893-08	27530331	95119548	85795712	16	24335											
TCOF1	6949	broad.mit.edu	37	5	149755650	149755650	+	Silent	SNP	A	A	G			TCGA-FG-5962-01B-11D-1893-08	TCGA-FG-5962-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28e93aff-9ec4-4fcf-a469-74d8b6190991	57a1f9a5-e7cd-478d-b678-8e1992d9b223	g.chr5:149755650A>G	ENST00000451292.1	+	13	2007	c.1899A>G	c.(1897-1899)aaA>aaG	p.K633K	TCOF1_ENST00000504761.2_Silent_p.K633K|TCOF1_ENST00000377797.3_Silent_p.K633K|TCOF1_ENST00000439160.2_Silent_p.K633K|TCOF1_ENST00000394269.3_Silent_p.K633K|TCOF1_ENST00000445265.2_Silent_p.K556K|TCOF1_ENST00000513346.1_Silent_p.K633K|TCOF1_ENST00000323668.7_Silent_p.K556K			Q13428	TCOF_HUMAN	Treacher Collins-Franceschetti syndrome 1	633					skeletal system development	nucleolus	protein binding|transporter activity			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTCAGGCAAAACCAGCTCTGA	0.572													16	223					0	0	0.004007	0	0	G	149755650	A	G	149755650	2	3	186	1	0	0	0	0	0	0	0	1	15768	40	2	3		3	TCOF1	5	149755650	Silent	SNP	A	TCGA-FG-5962-01B-11D-1893-08	54636102	149755650	31159610	17	24336											
MED7	9443	broad.mit.edu	37	5	156566369	156566369	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-5962-01B-11D-1893-08	TCGA-FG-5962-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28e93aff-9ec4-4fcf-a469-74d8b6190991	57a1f9a5-e7cd-478d-b678-8e1992d9b223	g.chr5:156566369T>C	ENST00000286317.5	-	2	455	c.74A>G	c.(73-75)aAt>aGt	p.N25S	MED7_ENST00000420343.1_Missense_Mutation_p.N25S	NM_004270.4	NP_004261.1	O43513	MED7_HUMAN	mediator complex subunit 7	25					regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex|transcription factor complex	protein binding|transcription coactivator activity			kidney(1)|large_intestine(1)|lung(3)|urinary_tract(2)	7	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TTCTTGAATATTTTCATCCGT	0.438													10	85					0	0	0.006214	0	0	C	156566369	T	C	156566369	3	2	186	1	0	0	0	0	1	0	0	0	9502	1493	52	3	631	3	MED7	5	156566369	Missense_Mutation	SNP	T	TCGA-FG-5962-01B-11D-1893-08	6810719	156566369	24348891	18	24337											
BNIP1	662	broad.mit.edu	37	5	172578699	172578699	+	Splice_Site	SNP	T	T	C			TCGA-FG-5962-01B-11D-1893-08	TCGA-FG-5962-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28e93aff-9ec4-4fcf-a469-74d8b6190991	57a1f9a5-e7cd-478d-b678-8e1992d9b223	g.chr5:172578699T>C	ENST00000231668.9	+	3	410		c.e3+2		BNIP1_ENST00000351486.5_Intron|BNIP1_ENST00000352523.6_Splice_Site|BNIP1_ENST00000393770.4_Intron	NM_013979.2	NP_053582.2	Q12981	SEC20_HUMAN	BCL2/adenovirus E1B 19kDa interacting protein 1						anti-apoptosis|apoptosis|endoplasmic reticulum membrane fusion|endoplasmic reticulum organization|induction of apoptosis|vesicle-mediated transport	integral to endoplasmic reticulum membrane|nuclear envelope|SNARE complex	protein binding			breast(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|skin(1)	11	Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			ACCTTCAGTGTGAGTATTTGT	0.368													3	111					0	0	0.014758	0	0	C	172578699	T	C	172578699	5	2	186	1	0	0	0	0	0	0	1	0	1475	1710	59	3	318	3	BNIP1	5	172578699	Splice_Site	SNP	T	TCGA-FG-5962-01B-11D-1893-08	16012330	172578699	8336561	19	24338											
MDN1	23195	broad.mit.edu	37	6	90428622	90428622	+	Missense_Mutation	SNP	A	A	G			TCGA-FG-5962-01B-11D-1893-08	TCGA-FG-5962-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28e93aff-9ec4-4fcf-a469-74d8b6190991	57a1f9a5-e7cd-478d-b678-8e1992d9b223	g.chr6:90428622A>G	ENST00000369393.3	-	42	6300	c.6185T>C	c.(6184-6186)gTc>gCc	p.V2062A	MDN1_ENST00000428876.1_Missense_Mutation_p.V2062A			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	2062					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		GACCAGGATGACCATCCAGCT	0.562													3	102					0	0	0.004672	0	0	G	90428622	A	G	90428622	3	3	186	1	0	0	0	0	1	0	0	0	9465	275	10	3	10849	3	MDN1	6	90428622	Missense_Mutation	SNP	A	TCGA-FG-5962-01B-11D-1893-08		90428622	80686445	20	24339											
ANKRD46	157567	broad.mit.edu	37	8	101534835	101534835	+	Missense_Mutation	SNP	T	T	A			TCGA-FG-5962-01B-11D-1893-08	TCGA-FG-5962-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28e93aff-9ec4-4fcf-a469-74d8b6190991	57a1f9a5-e7cd-478d-b678-8e1992d9b223	g.chr8:101534835T>A	ENST00000520311.1	-	5	1438	c.635A>T	c.(634-636)tAt>tTt	p.Y212F	ANKRD46_ENST00000519316.1_Missense_Mutation_p.Y159F|ANKRD46_ENST00000335659.3_Missense_Mutation_p.Y212F|ANKRD46_ENST00000519597.1_Missense_Mutation_p.Y212F|ANKRD46_ENST00000520552.1_Splice_Site_p.Y212F	NM_001270378.1	NP_001257307.1	Q86W74	ANR46_HUMAN	ankyrin repeat domain 46	212						integral to membrane				kidney(1)|large_intestine(2)|lung(4)	7	all_cancers(14;5.07e-05)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000353)|all_lung(17;0.000998)		Epithelial(11;2.61e-11)|all cancers(13;5.03e-09)|OV - Ovarian serous cystadenocarcinoma(57;4.49e-06)|STAD - Stomach adenocarcinoma(118;0.0957)			CCCACTCACATAATAAGCAAT	0.488													11	71					0	0	0.010729	0	0	A	101534835	T	A	101534835	3	1	186	1	0	0	0	0	1	0	0	0	668	1406	49	4	55	4	ANKRD46	8	101534835	Missense_Mutation	SNP	T	TCGA-FG-5962-01B-11D-1893-08		101534835	44829187	21	24340											
RAD21	5885	broad.mit.edu	37	8	117869555	117869555	+	Missense_Mutation	SNP	A	A	C			TCGA-FG-5962-01B-11D-1893-08	TCGA-FG-5962-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28e93aff-9ec4-4fcf-a469-74d8b6190991	57a1f9a5-e7cd-478d-b678-8e1992d9b223	g.chr8:117869555A>C	ENST00000297338.2	-	6	926	c.639T>G	c.(637-639)gaT>gaG	p.D213E	RAD21_ENST00000523547.1_5'UTR	NM_006265.2	NP_006256.1	O60216	RAD21_HUMAN	RAD21 homolog (S. pombe)	213					apoptosis|cell division|chromosome segregation|double-strand break repair|mitotic metaphase/anaphase transition|mitotic prometaphase|protein localization to chromatin|reciprocal meiotic recombination|regulation of transcription from RNA polymerase II promoter	chromosome, centromeric region|cohesin complex|nuclear chromosome|nucleoplasm	protein binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|stomach(1)	32	all_cancers(13;1.21e-21)|Lung NSC(37;0.000134)|Ovarian(258;0.0172)					CCTTATATTGATCTTCATATT	0.333													15	109					0	0	0.003163	0	0	C	117869555	A	C	117869555	3	2	186	1	0	0	0	0	1	0	0	0	13033	330	12	4	1292	4	RAD21	8	117869555	Missense_Mutation	SNP	A	TCGA-FG-5962-01B-11D-1893-08	16334720	117869555	28494467	22	24341											
ZNF618	114991	broad.mit.edu	37	9	116812025	116812025	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-5962-01B-11D-1893-08	TCGA-FG-5962-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28e93aff-9ec4-4fcf-a469-74d8b6190991	57a1f9a5-e7cd-478d-b678-8e1992d9b223	g.chr9:116812025C>T	ENST00000288466.7	+	14	2263	c.2164C>T	c.(2164-2166)Cgg>Tgg	p.R722W	ZNF618_ENST00000470105.1_3'UTR|ZNF618_ENST00000374126.5_Missense_Mutation_p.R815W	NM_133374.2	NP_588615.2	Q5T7W0	ZN618_HUMAN	zinc finger protein 618	815					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|lung(10)|urinary_tract(1)	16						GCAGAAGCTGCGGCCTGTGCC	0.627													4	102					0	0	0.014758	0	0	T	116812025	C	T	116812025	3	4	186	1	0	0	0	0	1	0	0	0	18099	759	27	1	2218	1	ZNF618	9	116812025	Missense_Mutation	SNP	C	TCGA-FG-5962-01B-11D-1893-08		116812025	24401406	23	24342											
NOTCH1	4851	broad.mit.edu	37	9	139412675	139412675	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-5962-01B-11D-1893-08	TCGA-FG-5962-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28e93aff-9ec4-4fcf-a469-74d8b6190991	57a1f9a5-e7cd-478d-b678-8e1992d9b223	g.chr9:139412675T>C	ENST00000277541.6	-	7	1244	c.1169A>G	c.(1168-1170)aAc>aGc	p.N390S		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	390	EGF-like 10.				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	p.N390S(2)		breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		ATTGACAGGGTTGGTGTCGCA	0.662			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			4	18					0	0	0.014758	0	0	C	139412675	T	C	139412675	3	2	186	1	0	0	0	0	1	0	0	0	10594	1725	60	3	6610	3	NOTCH1	9	139412675	Missense_Mutation	SNP	T	TCGA-FG-5962-01B-11D-1893-08	22600650	139412675	1800756	24	24343											
MUC2	4583	broad.mit.edu	37	11	1075719	1075719	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-5962-01B-11D-1893-08	TCGA-FG-5962-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28e93aff-9ec4-4fcf-a469-74d8b6190991	57a1f9a5-e7cd-478d-b678-8e1992d9b223	g.chr11:1075719G>A	ENST00000441003.2	+	2	172	c.145G>A	c.(145-147)Gac>Aac	p.D49N	MUC2_ENST00000359061.5_Missense_Mutation_p.D49N	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	49	VWFD 1.					inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	CAAGACCTTCGACGGGGACGT	0.622													7	38					0	0	0.00308	0	0	A	1075719	G	A	1075719	3	1	186	1	0	0	0	0	1	0	0	0	10023	1058	37	1	151	1	MUC2	11	1075719	Missense_Mutation	SNP	G	TCGA-FG-5962-01B-11D-1893-08		1075719	133930797	25	24344											
OR5AS1	219447	broad.mit.edu	37	11	55798086	55798086	+	Missense_Mutation	SNP	C	C	G			TCGA-FG-5962-01B-11D-1893-08	TCGA-FG-5962-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28e93aff-9ec4-4fcf-a469-74d8b6190991	57a1f9a5-e7cd-478d-b678-8e1992d9b223	g.chr11:55798086C>G	ENST00000313555.1	+	1	192	c.192C>G	c.(190-192)agC>agG	p.S64R		NM_001001921.1	NP_001001921.1	Q8N127	O5AS1_HUMAN	olfactory receptor, family 5, subfamily AS, member 1	64					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1)	48	Esophageal squamous(21;0.00693)					ATTTTCTTAGCAACTTATCTT	0.348													7	57					0	0	0.001984	0	0	G	55798086	C	G	55798086	3	3	186	1	0	0	0	0	1	0	0	0	11193	709	25	5	194	5	OR5AS1	11	55798086	Missense_Mutation	SNP	C	TCGA-FG-5962-01B-11D-1893-08	54722367	55798086	79208430	26	24345											
OR1S2	219958	broad.mit.edu	37	11	57970708	57970708	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-5962-01B-11D-1893-08	TCGA-FG-5962-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28e93aff-9ec4-4fcf-a469-74d8b6190991	57a1f9a5-e7cd-478d-b678-8e1992d9b223	g.chr11:57970708T>C	ENST00000302592.6	-	1	945	c.946A>G	c.(946-948)Aag>Gag	p.K316E		NM_001004459.1	NP_001004459.1	Q8NGQ3	OR1S2_HUMAN	olfactory receptor, family 1, subfamily S, member 2	316					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(11)|kidney(1)|large_intestine(4)|lung(23)|ovary(2)|skin(2)|stomach(2)|urinary_tract(1)	46		Breast(21;0.0589)				TTGATGAGCTTTCTCAGGGCA	0.413													5	221					0	0	0.010729	0	0	C	57970708	T	C	57970708	3	2	186	1	0	0	0	0	1	0	0	0	11021	1850	64	3	34	3	OR1S2	11	57970708	Missense_Mutation	SNP	T	TCGA-FG-5962-01B-11D-1893-08	2172622	57970708	77035808	27	24346											
PDGFD	80310	broad.mit.edu	37	11	103870852	103870852	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FG-5962-01B-11D-1893-08	TCGA-FG-5962-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28e93aff-9ec4-4fcf-a469-74d8b6190991	57a1f9a5-e7cd-478d-b678-8e1992d9b223	g.chr11:103870852G>A	ENST00000302251.5	-	2	689	c.238C>T	c.(238-240)Cag>Tag	p.Q80*	PDGFD_ENST00000393158.2_Nonsense_Mutation_p.Q86*	NM_025208.4|NM_033135.3	NP_079484.1|NP_149126.1	Q9GZP0	PDGFD_HUMAN	platelet derived growth factor D	86	CUB.				positive regulation of cell division	endoplasmic reticulum lumen|extracellular region|Golgi membrane	growth factor activity			biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Melanoma(852;0.0563)|all_neural(303;0.165)		BRCA - Breast invasive adenocarcinoma(274;0.00136)|Epithelial(105;0.111)		GTATTCTCCTGAGAGTGAAGC	0.458													14	202					0	0	0.020292	0	0	A	103870852	G	A	103870852	4	1	186	1	0	0	0	0	0	1	0	0	11707	1299	45	2	880	2	PDGFD	11	103870852	Nonsense_Mutation	SNP	G	TCGA-FG-5962-01B-11D-1893-08	45900144	103870852	31135664	28	24347											
RDX	5962	broad.mit.edu	37	11	110134885	110134885	+	Silent	SNP	A	A	C			TCGA-FG-5962-01B-11D-1893-08	TCGA-FG-5962-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28e93aff-9ec4-4fcf-a469-74d8b6190991	57a1f9a5-e7cd-478d-b678-8e1992d9b223	g.chr11:110134885A>C	ENST00000343115.4	-	5	586	c.267T>G	c.(265-267)gtT>gtG	p.V89V	RDX_ENST00000405097.1_Silent_p.V89V|RDX_ENST00000528900.1_Intron|RDX_ENST00000528498.1_Silent_p.V89V|RDX_ENST00000544551.1_Intron|RDX_ENST00000530301.1_Silent_p.V57V	NM_001260494.1|NM_002906.3	NP_001247423.1|NP_002897.1	P35241	RADI_HUMAN	radixin	89	FERM.				actin filament capping	cleavage furrow|cytoskeleton|extrinsic to membrane|Golgi apparatus|nucleolus|plasma membrane	actin binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	18		all_cancers(61;7.18e-13)|all_epithelial(67;2.61e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.13e-06)|BRCA - Breast invasive adenocarcinoma(274;9.75e-06)|all cancers(92;5.9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0248)		ATTCCTCAGAAACATCTTCAG	0.343													7	56					0	0	0.00308	0	0	C	110134885	A	C	110134885	2	2	186	1	0	0	0	0	0	0	0	1	13250	1	1	5		5	RDX	11	110134885	Silent	SNP	A	TCGA-FG-5962-01B-11D-1893-08	6264033	110134885	24871631	29	24348											
SIK2	23235	broad.mit.edu	37	11	111487048	111487048	+	Missense_Mutation	SNP	A	A	C			TCGA-FG-5962-01B-11D-1893-08	TCGA-FG-5962-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28e93aff-9ec4-4fcf-a469-74d8b6190991	57a1f9a5-e7cd-478d-b678-8e1992d9b223	g.chr11:111487048A>C	ENST00000304987.3	+	2	390	c.217A>C	c.(217-219)Atg>Ctg	p.M73L		NM_015191.1	NP_056006.1	Q9H0K1	SIK2_HUMAN	salt-inducible kinase 2	73	Protein kinase.				intracellular protein kinase cascade|regulation of insulin receptor signaling pathway	Golgi apparatus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	30						AATAATGAAAATGTTAGACCA	0.373													11	71					0	0	0.013537	0	0	C	111487048	A	C	111487048	3	2	186	1	0	0	0	0	1	0	0	0	14373	101	4	4	223	4	SIK2	11	111487048	Missense_Mutation	SNP	A	TCGA-FG-5962-01B-11D-1893-08	1352163	111487048	23519468	30	24349											
CSRNP2	81566	broad.mit.edu	37	12	51470329	51470329	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-5962-01B-11D-1893-08	TCGA-FG-5962-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28e93aff-9ec4-4fcf-a469-74d8b6190991	57a1f9a5-e7cd-478d-b678-8e1992d9b223	g.chr12:51470329C>T	ENST00000228515.1	-	2	313	c.16G>A	c.(16-18)Ggc>Agc	p.G6S		NM_030809.2	NP_110436.1	Q9H175	CSRN2_HUMAN	cysteine-serine-rich nuclear protein 2	6					apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	14						AGACCCGAGCCCGTGAATGCA	0.522													9	153					0	0	0.006214	0	0	T	51470329	C	T	51470329	3	4	186	1	0	0	0	0	1	0	0	0	3989	623	22	2	1631	2	CSRNP2	12	51470329	Missense_Mutation	SNP	C	TCGA-FG-5962-01B-11D-1893-08		51470329	82381566	31	24350											
TMEM120B	144404	broad.mit.edu	37	12	122190038	122190038	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-5962-01B-11D-1893-08	TCGA-FG-5962-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28e93aff-9ec4-4fcf-a469-74d8b6190991	57a1f9a5-e7cd-478d-b678-8e1992d9b223	g.chr12:122190038G>A	ENST00000449592.2	+	5	471	c.370G>A	c.(370-372)Gcc>Acc	p.A124T	TMEM120B_ENST00000540377.1_5'UTR	NM_001080825.2	NP_001074294.2	A0PK00	T120B_HUMAN	transmembrane protein 120B	124						integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(6)	11	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;5.75e-05)|Epithelial(86;0.000128)|BRCA - Breast invasive adenocarcinoma(302;0.238)		TGGCAGGTTCGCCTACAAGGA	0.567													11	96					0	0	0.010729	0	0	A	122190038	G	A	122190038	3	1	186	1	0	0	0	0	1	0	0	0	16094	1087	38	1	388	1	TMEM120B	12	122190038	Missense_Mutation	SNP	G	TCGA-FG-5962-01B-11D-1893-08	70719709	122190038	11661857	32	24351											
ZMYM2	7750	broad.mit.edu	37	13	20638648	20638648	+	Missense_Mutation	SNP	A	A	G			TCGA-FG-5962-01B-11D-1893-08	TCGA-FG-5962-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28e93aff-9ec4-4fcf-a469-74d8b6190991	57a1f9a5-e7cd-478d-b678-8e1992d9b223	g.chr13:20638648A>G	ENST00000382869.3	+	19	3346	c.3095A>G	c.(3094-3096)gAa>gGa	p.E1032G	ZMYM2_ENST00000382871.2_Missense_Mutation_p.E1032G|ZMYM2_ENST00000382874.2_Missense_Mutation_p.E1032G	NM_001190965.1|NM_003453.3|NM_197968.2	NP_001177894.1|NP_003444.1|NP_932072.1	Q9UBW7	ZMYM2_HUMAN	zinc finger, MYM-type 2	1032					regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	ubiquitin conjugating enzyme binding|zinc ion binding			large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10		all_cancers(29;8.65e-21)|all_epithelial(30;1.04e-18)|all_lung(29;6.75e-18)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;0.000148)|Epithelial(112;0.000249)|OV - Ovarian serous cystadenocarcinoma(117;0.00816)|Lung(94;0.0173)|LUSC - Lung squamous cell carcinoma(192;0.0856)		TTTGGCGAAGAATATGAGGAA	0.343													3	8					0	0	0.009096	0	0	G	20638648	A	G	20638648	3	3	186	1	0	0	0	0	1	0	0	0	17758	246	9	3	3161	3	ZMYM2	13	20638648	Missense_Mutation	SNP	A	TCGA-FG-5962-01B-11D-1893-08		20638648	94531230	33	24352											
HERC2	8924	broad.mit.edu	37	15	28389059	28389059	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-5962-01B-11D-1893-08	TCGA-FG-5962-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28e93aff-9ec4-4fcf-a469-74d8b6190991	57a1f9a5-e7cd-478d-b678-8e1992d9b223	g.chr15:28389059T>C	ENST00000261609.7	-	74	11486	c.11378A>G	c.(11377-11379)aAt>aGt	p.N3793S		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	3793					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		AAGCAGCCTATTTATGTTAAT	0.423													5	138					0	0	0.014758	0	0	C	28389059	T	C	28389059	3	2	186	1	0	0	0	0	1	0	0	0	7099	1493	52	3	3206	3	HERC2	15	28389059	Missense_Mutation	SNP	T	TCGA-FG-5962-01B-11D-1893-08		28389059	74142333	34	24353											
HERC2	8924	broad.mit.edu	37	15	28460828	28460828	+	Missense_Mutation	SNP	G	G	A	rs140060040	byFrequency	TCGA-FG-5962-01B-11D-1893-08	TCGA-FG-5962-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28e93aff-9ec4-4fcf-a469-74d8b6190991	57a1f9a5-e7cd-478d-b678-8e1992d9b223	g.chr15:28460828G>A	ENST00000261609.7	-	39	6257	c.6149C>T	c.(6148-6150)aCg>aTg	p.T2050M		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	2050					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CATGAGCAGCGTGATCCACTG	0.632													12	16					0	0	0.013537	0	0	A	28460828	G	A	28460828	3	1	186	1	0	0	0	0	1	0	0	0	7099	1145	40	1	8575	1	HERC2	15	28460828	Missense_Mutation	SNP	G	TCGA-FG-5962-01B-11D-1893-08	71769	28460828	74070564	35	24354											
VPS13C	54832	broad.mit.edu	37	15	62201315	62201315	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-5962-01B-11D-1893-08	TCGA-FG-5962-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28e93aff-9ec4-4fcf-a469-74d8b6190991	57a1f9a5-e7cd-478d-b678-8e1992d9b223	g.chr15:62201315T>C	ENST00000261517.5	-	65	8927	c.8854A>G	c.(8854-8856)Atc>Gtc	p.I2952V	VPS13C_ENST00000395898.3_Missense_Mutation_p.I2909V|VPS13C_ENST00000395896.4_Missense_Mutation_p.I2952V|VPS13C_ENST00000249837.3_Missense_Mutation_p.I2909V	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13 homolog C (S. cerevisiae)	2952					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						TCCACCAAGATACCCCCATTC	0.348													5	51					0	0	0.014758	0	0	C	62201315	T	C	62201315	3	2	186	1	0	0	0	0	1	0	0	0	17251	1406	49	3	2519	3	VPS13C	15	62201315	Missense_Mutation	SNP	T	TCGA-FG-5962-01B-11D-1893-08	33740487	62201315	40330077	36	24355											
HERC1	8925	broad.mit.edu	37	15	63901366	63901366	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-5962-01B-11D-1893-08	TCGA-FG-5962-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28e93aff-9ec4-4fcf-a469-74d8b6190991	57a1f9a5-e7cd-478d-b678-8e1992d9b223	g.chr15:63901366T>C	ENST00000443617.2	-	78	14587	c.14500A>G	c.(14500-14502)Atc>Gtc	p.I4834V		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	4834	HECT.				protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						CAGTTGTTGATGGCATAGCGC	0.602													7	30					0	0	0.006214	0	0	C	63901366	T	C	63901366	3	2	186	1	0	0	0	0	1	0	0	0	7098	1464	51	3	89	3	HERC1	15	63901366	Missense_Mutation	SNP	T	TCGA-FG-5962-01B-11D-1893-08	1700051	63901366	38630026	37	24356											
ANKS4B	257629	broad.mit.edu	37	16	21261086	21261086	+	Missense_Mutation	SNP	A	A	G			TCGA-FG-5962-01B-11D-1893-08	TCGA-FG-5962-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28e93aff-9ec4-4fcf-a469-74d8b6190991	57a1f9a5-e7cd-478d-b678-8e1992d9b223	g.chr16:21261086A>G	ENST00000311620.5	+	2	272	c.199A>G	c.(199-201)Act>Gct	p.T67A		NM_145865.2	NP_665872.2	Q8N8V4	ANS4B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 4B	67										NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|lung(11)|ovary(2)	20				GBM - Glioblastoma multiforme(48;0.0565)		CTGGGGAAACACTCCTCTACA	0.463													8	85					0	0	0.004482	0	0	G	21261086	A	G	21261086	3	3	186	1	0	0	0	0	1	0	0	0	685	159	6	3	205	3	ANKS4B	16	21261086	Missense_Mutation	SNP	A	TCGA-FG-5962-01B-11D-1893-08		21261086	69093667	38	24357											
BCKDK	10295	broad.mit.edu	37	16	31121057	31121057	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-5962-01B-11D-1893-08	TCGA-FG-5962-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28e93aff-9ec4-4fcf-a469-74d8b6190991	57a1f9a5-e7cd-478d-b678-8e1992d9b223	g.chr16:31121057C>T	ENST00000394951.1	+	5	951	c.328C>T	c.(328-330)Cgc>Tgc	p.R110C	BCKDK_ENST00000219794.6_Missense_Mutation_p.R110C|BCKDK_ENST00000394950.3_Missense_Mutation_p.R110C|BCKDK_ENST00000287507.3_Missense_Mutation_p.R110C			O14874	BCKD_HUMAN	branched chain ketoacid dehydrogenase kinase	110					branched chain family amino acid catabolic process|peptidyl-histidine phosphorylation	mitochondrial alpha-ketoglutarate dehydrogenase complex	[3-methyl-2-oxobutanoate dehydrogenase (acetyl-transferring)] kinase activity|ATP binding|protein binding|protein serine/threonine kinase activity|two-component sensor activity			breast(1)|stomach(1)	2						CAAGGGCTTCCGCTGCCTTCC	0.587													11	96					0	0	0.010729	0	0	T	31121057	C	T	31121057	3	4	186	1	0	0	0	0	1	0	0	0	1359	652	23	1	338	1	BCKDK	16	31121057	Missense_Mutation	SNP	C	TCGA-FG-5962-01B-11D-1893-08	9859971	31121057	59233696	39	24358											
COL1A1	1277	broad.mit.edu	37	17	48264128	48264128	+	Silent	SNP	G	G	A			TCGA-FG-5962-01B-11D-1893-08	TCGA-FG-5962-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28e93aff-9ec4-4fcf-a469-74d8b6190991	57a1f9a5-e7cd-478d-b678-8e1992d9b223	g.chr17:48264128G>A	ENST00000225964.5	-	48	3805	c.3687C>T	c.(3685-3687)ctC>ctT	p.L1229L		NM_000088.3	NP_000079	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	1229	Fibrillar collagen NC1.				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)|Palifermin(DB00039)	TGTCCACCTCGAGGTCACGGT	0.627			T	"PDGFB, USP6"	"dermatofibrosarcoma protuberans, aneurysmal bone cyst "		Osteogenesis imperfecta						11	284					0	0	0.013537	0	0	A	48264128	G	A	48264128	2	1	186	1	0	0	0	0	0	0	0	1	3700	1045	37	1		1	COL1A1	17	48264128	Silent	SNP	G	TCGA-FG-5962-01B-11D-1893-08		48264128	32931082	40	24359											
TMEM104	54868	broad.mit.edu	37	17	72832630	72832630	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-5962-01B-11D-1893-08	TCGA-FG-5962-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28e93aff-9ec4-4fcf-a469-74d8b6190991	57a1f9a5-e7cd-478d-b678-8e1992d9b223	g.chr17:72832630G>A	ENST00000335464.5	+	10	1457	c.1295G>A	c.(1294-1296)gGc>gAc	p.G432D	TMEM104_ENST00000582773.1_Intron|TMEM104_ENST00000582330.1_Missense_Mutation_p.G432D|TMEM104_ENST00000417024.2_Intron	NM_017728.3	NP_060198.3	Q8NE00	TM104_HUMAN	transmembrane protein 104	432						integral to membrane				NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(5)|ovary(1)	19	all_lung(278;0.23)					GCGGGCACCGGCATCCAGTAC	0.652													4	49					0	0	0.014758	0	0	A	72832630	G	A	72832630	3	1	186	1	0	0	0	0	1	0	0	0	16078	1203	42	2	1329	2	TMEM104	17	72832630	Missense_Mutation	SNP	G	TCGA-FG-5962-01B-11D-1893-08	24568502	72832630	8362580	41	24360											
LAMA1	284217	broad.mit.edu	37	18	7036073	7036073	+	Silent	SNP	G	G	A	rs138401018	byFrequency	TCGA-FG-5962-01B-11D-1893-08	TCGA-FG-5962-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28e93aff-9ec4-4fcf-a469-74d8b6190991	57a1f9a5-e7cd-478d-b678-8e1992d9b223	g.chr18:7036073G>A	ENST00000389658.3	-	13	1845	c.1752C>T	c.(1750-1752)ggC>ggT	p.G584G		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	584	Laminin IV type A 1.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TCAGGAATCCGCCAAACGCAG	0.453													4	53					0	0	0.001168	0	0	A	7036073	G	A	7036073	2	1	186	1	0	0	0	0	0	0	0	1	8644	1074	38	1		1	LAMA1	18	7036073	Silent	SNP	G	TCGA-FG-5962-01B-11D-1893-08		7036073	71041175	42	24361											
FSD1	79187	broad.mit.edu	37	19	4311913	4311913	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-5962-01B-11D-1893-08	TCGA-FG-5962-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28e93aff-9ec4-4fcf-a469-74d8b6190991	57a1f9a5-e7cd-478d-b678-8e1992d9b223	g.chr19:4311913C>T	ENST00000221856.6	+	7	712	c.565C>T	c.(565-567)Ccg>Tcg	p.P189S	FSD1_ENST00000598010.1_3'UTR|FSD1_ENST00000597590.1_Missense_Mutation_p.P189S	NM_024333.2	NP_077309.1	Q9BTV5	FSD1_HUMAN	fibronectin type III and SPRY domain containing 1	189	Fibronectin type-III.				cell division|mitosis	cleavage furrow|microtubule|microtubule organizing center|nucleus				breast(2)|cervix(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.034)|STAD - Stomach adenocarcinoma(1328;0.18)		GTGGCGCATGCCGGATGAGGA	0.632													4	81					0	0	0.014758	0	0	T	4311913	C	T	4311913	3	4	186	1	0	0	0	0	1	0	0	0	6105	739	26	2	591	2	FSD1	19	4311913	Missense_Mutation	SNP	C	TCGA-FG-5962-01B-11D-1893-08		4311913	54817070	43	24362											
CLEC4M	10332	broad.mit.edu	37	19	7833752	7833752	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-5962-01B-11D-1893-08	TCGA-FG-5962-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28e93aff-9ec4-4fcf-a469-74d8b6190991	57a1f9a5-e7cd-478d-b678-8e1992d9b223	g.chr19:7833752C>T	ENST00000327325.5	+	7	1196	c.1078C>T	c.(1078-1080)Ccc>Tcc	p.P360S	CLEC4M_ENST00000357361.2_Missense_Mutation_p.T322I|CLEC4M_ENST00000597522.1_Missense_Mutation_p.T230I|CLEC4M_ENST00000334806.5_Missense_Mutation_p.P309S|CLEC4M_ENST00000596363.1_Missense_Mutation_p.T294I|CLEC4M_ENST00000248228.4_Missense_Mutation_p.P338S|CLEC4M_ENST00000359059.5_Missense_Mutation_p.P293S|CLEC4M_ENST00000394122.2_Missense_Mutation_p.P348S|CLEC4M_ENST00000595496.1_Missense_Mutation_p.P224S|CLEC4M_ENST00000596707.1_Missense_Mutation_p.P293S	NM_001144909.1|NM_014257.4	NP_001138381.1|NP_055072.3	Q9H2X3	CLC4M_HUMAN	C-type lectin domain family 4, member M	360	C-type lectin.				cell-cell recognition|endocytosis|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to plasma membrane	ICAM-3 receptor activity|mannose binding|metal ion binding|peptide antigen binding|virion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1)	26						CAGTGGAGAACCCAACAATAG	0.512													23	186					0	0	0.00632	0	0	T	7833752	C	T	7833752	3	4	186	1	0	0	0	0	1	0	0	0	3541	507	18	2	1125	2	CLEC4M	19	7833752	Missense_Mutation	SNP	C	TCGA-FG-5962-01B-11D-1893-08	3521839	7833752	51295231	44	24363											
CIC	23152	broad.mit.edu	37	19	42799059	42799059	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-5962-01B-11D-1893-08	TCGA-FG-5962-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28e93aff-9ec4-4fcf-a469-74d8b6190991	57a1f9a5-e7cd-478d-b678-8e1992d9b223	g.chr19:42799059C>T	ENST00000572681.2	+	21	7329	c.7261C>T	c.(7261-7263)Cgc>Tgc	p.R2421C	CIC_ENST00000575354.2_Missense_Mutation_p.R1515C|CIC_ENST00000160740.3_Missense_Mutation_p.R1513C			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	1515					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CCGTGAGGTGCGCCAGAAGAT	0.632			"Mis, F, S"		oligodendroglioma								8	60					0	0	0.004482	0	0	T	42799059	C	T	42799059	3	4	186	1	0	0	0	0	1	0	0	0	3446	768	27	1	4621	1	CIC	19	42799059	Missense_Mutation	SNP	C	TCGA-FG-5962-01B-11D-1893-08	34965307	42799059	16329924	45	24364											
XRN2	22803	broad.mit.edu	37	20	21336757	21336757	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-5962-01B-11D-1893-08	TCGA-FG-5962-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28e93aff-9ec4-4fcf-a469-74d8b6190991	57a1f9a5-e7cd-478d-b678-8e1992d9b223	g.chr20:21336757G>A	ENST00000377191.3	+	22	2155	c.2060G>A	c.(2059-2061)gGg>gAg	p.G687E	XRN2_ENST00000539513.1_Missense_Mutation_p.G633E|XRN2_ENST00000430571.2_Missense_Mutation_p.G611E	NM_012255.3	NP_036387.2	Q9H0D6	XRN2_HUMAN	5'-3' exoribonuclease 2	687					cell growth|DNA catabolic process, exonucleolytic|mRNA processing|regulation of transcription, DNA-dependent|RNA catabolic process|spermatogenesis|transcription termination, DNA-dependent	nucleolus	5'-3' exoribonuclease activity|nucleic acid binding|protein binding|zinc ion binding			endometrium(5)|kidney(6)|large_intestine(10)|lung(12)|ovary(1)|skin(5)	39						TTATTTGTGGGGAAACATCAC	0.383													16	128					0	0	0.007413	0	0	A	21336757	G	A	21336757	3	1	186	1	0	0	0	0	1	0	0	0	17520	1232	43	2	2146	2	XRN2	20	21336757	Missense_Mutation	SNP	G	TCGA-FG-5962-01B-11D-1893-08		21336757	41688763	46	24365											
GTSE1	51512	broad.mit.edu	37	22	46704680	46704680	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-5962-01B-11D-1893-08	TCGA-FG-5962-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28e93aff-9ec4-4fcf-a469-74d8b6190991	57a1f9a5-e7cd-478d-b678-8e1992d9b223	g.chr22:46704680G>A	ENST00000454366.1	+	4	814	c.602G>A	c.(601-603)cGg>cAg	p.R201Q		NM_016426.6	NP_057510	Q9NYZ3	GTSE1_HUMAN	G-2 and S-phase expressed 1	182					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2 phase of mitotic cell cycle|microtubule-based process	cytoplasmic microtubule		p.R182H(1)		NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	27		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00462)		CGCCTCACCCGGGCGCCGGGG	0.687													4	181					0	0	0.009096	0	0	A	46704680	G	A	46704680	3	1	186	1	0	0	0	0	1	0	0	0	6926	1116	39	1	612	1	GTSE1	22	46704680	Missense_Mutation	SNP	G	TCGA-FG-5962-01B-11D-1893-08		46704680	4599886	47	24366											
COL4A6	1288	broad.mit.edu	37	X	107402954	107402954	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-5962-01B-11D-1893-08	TCGA-FG-5962-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28e93aff-9ec4-4fcf-a469-74d8b6190991	57a1f9a5-e7cd-478d-b678-8e1992d9b223	g.chrX:107402954C>T	ENST00000334504.7	-	44	4783	c.4550G>A	c.(4549-4551)cGc>cAc	p.R1517H	COL4A6_ENST00000372216.4_Missense_Mutation_p.R1518H|COL4A6_ENST00000545689.1_Missense_Mutation_p.R1493H|COL4A6_ENST00000538570.1_Missense_Mutation_p.R1460H|COL4A6_ENST00000418180.1_Missense_Mutation_p.R52H|COL4A6_ENST00000394872.2_Missense_Mutation_p.R1518H	NM_033641.2	NP_378667.1	Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	1518	Collagen IV NC1.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						GGTGCTGAAGCGGGGCAGACA	0.562									Alport syndrome with Diffuse Leiomyomatosis				37	108					0	0	0.00623	0	0	T	107402954	C	T	107402954	3	4	186	1	0	0	0	0	1	0	0	0	3718	768	27	1	530	1	COL4A6	23	107402954	Missense_Mutation	SNP	C	TCGA-FG-5962-01B-11D-1893-08		107402954	47867606	48	24367											
ZCCHC12	170261	broad.mit.edu	37	X	117959418	117959418	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-5962-01B-11D-1893-08	TCGA-FG-5962-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28e93aff-9ec4-4fcf-a469-74d8b6190991	57a1f9a5-e7cd-478d-b678-8e1992d9b223	g.chrX:117959418G>A	ENST00000310164.2	+	4	718	c.211G>A	c.(211-213)Gtc>Atc	p.V71I		NM_173798.2	NP_776159.1	Q6PEW1	ZCH12_HUMAN	zinc finger, CCHC domain containing 12	71					regulation of transcription, DNA-dependent|transcription, DNA-dependent		nucleic acid binding|zinc ion binding	p.V71I(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	22						agtcaatggcgtcctgccaga	0.557													18	76					0	0	0.00499	0	0	A	117959418	G	A	117959418	3	1	186	1	0	0	0	0	1	0	0	0	17640	1145	40	1	213	1	ZCCHC12	23	117959418	Missense_Mutation	SNP	G	TCGA-FG-5962-01B-11D-1893-08	10556464	117959418	37311142	49	24368											
WDR47	22911	broad.mit.edu	37	1	109544855	109544855	+	Missense_Mutation	SNP	A	A	G			TCGA-FG-5963-01A-11D-1705-08	TCGA-FG-5963-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22326318-2d69-4163-96f3-2729ac0ed905	8db33879-438e-4e72-a0f5-46f899011432	g.chr1:109544855A>G	ENST00000357672.3	-	6	1715	c.1340T>C	c.(1339-1341)tTc>tCc	p.F447S	WDR47_ENST00000369965.4_Missense_Mutation_p.F476S|WDR47_ENST00000400794.3_Missense_Mutation_p.F483S|WDR47_ENST00000361054.3_Missense_Mutation_p.F447S|WDR47_ENST00000369962.3_Missense_Mutation_p.F475S			O94967	WDR47_HUMAN	WD repeat domain 47	475	Gln-rich.									breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20		all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822)		Colorectal(144;0.0165)|Lung(183;0.0484)|COAD - Colon adenocarcinoma(174;0.128)|Epithelial(280;0.168)|all cancers(265;0.201)|LUSC - Lung squamous cell carcinoma(189;0.244)		CCTATTAAGGAACTGTTCAGT	0.383													3	141					0	0	0.115264	0	0	G	109544855	A	G	109544855	3	3	187	1	0	0	0	0	1	0	0	0	17360	246	9	3	1371	3	WDR47	1	109544855	Missense_Mutation	SNP	A	TCGA-FG-5963-01A-11D-1705-08		109544855	139705766	1	24369											
PM20D1	148811	broad.mit.edu	37	1	205814452	205814452	+	Splice_Site	SNP	C	C	G			TCGA-FG-5963-01A-11D-1705-08	TCGA-FG-5963-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22326318-2d69-4163-96f3-2729ac0ed905	8db33879-438e-4e72-a0f5-46f899011432	g.chr1:205814452C>G	ENST00000367136.4	-	3	534		c.e3+1		PM20D1_ENST00000460624.1_Splice_Site	NM_152491.4	NP_689704.4	Q6GTS8	P20D1_HUMAN	peptidase M20 domain containing 1							extracellular region	metal ion binding|peptidase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)	28	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0252)			GCATCTCAGACCATCACAGAG	0.547													4	62					0	0	0.184627	0	0	G	205814452	C	G	205814452	5	3	187	1	0	0	0	0	0	0	1	0	12176	521	18	5	1062	5	PM20D1	1	205814452	Splice_Site	SNP	C	TCGA-FG-5963-01A-11D-1705-08	96269597	205814452	43436169	2	24370											
KIDINS220	57498	broad.mit.edu	37	2	8958894	8958894	+	Silent	SNP	G	G	A			TCGA-FG-5963-01A-11D-1705-08	TCGA-FG-5963-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22326318-2d69-4163-96f3-2729ac0ed905	8db33879-438e-4e72-a0f5-46f899011432	g.chr2:8958894G>A	ENST00000256707.3	-	3	319	c.138C>T	c.(136-138)gcC>gcT	p.A46A	KIDINS220_ENST00000319688.5_Silent_p.A46A|KIDINS220_ENST00000427284.1_Silent_p.A46A|KIDINS220_ENST00000473731.1_Silent_p.A46A|KIDINS220_ENST00000418530.1_Silent_p.A4A	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	46					activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					TGCCTTGTTCGGCAGCTATCA	0.328													18	67					0	0	0.608945	0	0	A	8958894	G	A	8958894	2	1	187	1	0	0	0	0	0	0	0	1	8313	1103	39	1		1	KIDINS220	2	8958894	Silent	SNP	G	TCGA-FG-5963-01A-11D-1705-08		8958894	234240479	3	24371											
MAP4K4	9448	broad.mit.edu	37	2	102503626	102503626	+	Missense_Mutation	SNP	A	A	G			TCGA-FG-5963-01A-11D-1705-08	TCGA-FG-5963-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22326318-2d69-4163-96f3-2729ac0ed905	8db33879-438e-4e72-a0f5-46f899011432	g.chr2:102503626A>G	ENST00000413150.2	+	26	3063	c.3008A>G	c.(3007-3009)tAt>tGt	p.Y1003C	MAP4K4_ENST00000425019.1_Missense_Mutation_p.Y1121C|MAP4K4_ENST00000456652.1_Missense_Mutation_p.Y887C|MAP4K4_ENST00000350198.4_Missense_Mutation_p.Y1007C|MAP4K4_ENST00000324219.4_Missense_Mutation_p.Y1169C|MAP4K4_ENST00000347699.4_Missense_Mutation_p.Y1088C|MAP4K4_ENST00000350878.4_Missense_Mutation_p.Y1128C|MAP4K4_ENST00000302217.5_Missense_Mutation_p.Y891C	NM_001242560.1|NM_004834.4	NP_001229489.1|NP_004825.3	O95819	M4K4_HUMAN	mitogen-activated protein kinase kinase kinase kinase 4	1088	CNH.|Mediates interaction with RAP2A.				intracellular protein kinase cascade|regulation of JNK cascade|response to stress	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						AAAGTGATCTATGGATCCTGT	0.423													3	17					0	0	0.115264	0	0	G	102503626	A	G	102503626	3	3	187	1	0	0	0	0	1	0	0	0	9312	449	16	3	3620	3	MAP4K4	2	102503626	Missense_Mutation	SNP	A	TCGA-FG-5963-01A-11D-1705-08	93544732	102503626	140695747	4	24372											
USP37	57695	broad.mit.edu	37	2	219418446	219418446	+	Splice_Site	SNP	A	A	G			TCGA-FG-5963-01A-11D-1705-08	TCGA-FG-5963-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22326318-2d69-4163-96f3-2729ac0ed905	8db33879-438e-4e72-a0f5-46f899011432	g.chr2:219418446A>G	ENST00000258399.3	-	5	570	c.158T>C	c.(157-159)cTa>cCa	p.L53P	USP37_ENST00000418019.1_Splice_Site_p.L53P|USP37_ENST00000454775.1_Splice_Site_p.L53P|USP37_ENST00000415516.1_5'UTR|USP37_ENST00000338465.5_Splice_Site_p.L53P	NM_020935.2	NP_065986	Q86T82	UBP37_HUMAN	ubiquitin specific peptidase 37	53					ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			NS(2)|breast(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(5)|stomach(1)	35		Renal(207;0.0915)		Epithelial(149;1.08e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.00375)|Lung(261;0.00487)		GTTATGACTTAGCTAATCAAG	0.318													3	43					0	0	0.150653	0	0	G	219418446	A	G	219418446	5	3	187	1	0	0	0	0	0	0	1	0	17128	434	15	3	2869	3	USP37	2	219418446	Splice_Site	SNP	A	TCGA-FG-5963-01A-11D-1705-08	116914820	219418446	23780927	5	24373											
CCDC66	285331	broad.mit.edu	37	3	56627603	56627603	+	Missense_Mutation	SNP	A	A	G			TCGA-FG-5963-01A-11D-1705-08	TCGA-FG-5963-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22326318-2d69-4163-96f3-2729ac0ed905	8db33879-438e-4e72-a0f5-46f899011432	g.chr3:56627603A>G	ENST00000394672.3	+	9	1223	c.1153A>G	c.(1153-1155)Aca>Gca	p.T385A	CCDC66_ENST00000436465.2_Missense_Mutation_p.T385A|CCDC66_ENST00000326595.7_Missense_Mutation_p.T351A	NM_001012506.4|NM_001141947.1	NP_001012524.4|NP_001135419.1	A2RUB6	CCD66_HUMAN	coiled-coil domain containing 66	385										breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(2)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(284;0.0478)|Kidney(284;0.0597)|OV - Ovarian serous cystadenocarcinoma(275;0.233)		CTCTCAGTCAACACACAAACA	0.453													10	53					0	0	0.361761	0	0	G	56627603	A	G	56627603	3	3	187	1	0	0	0	0	1	0	0	0	2858	43	2	3	1187	3	CCDC66	3	56627603	Missense_Mutation	SNP	A	TCGA-FG-5963-01A-11D-1705-08		56627603	141394827	6	24374											
MYLK	4638	broad.mit.edu	37	3	123444812	123444812	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-5963-01A-11D-1705-08	TCGA-FG-5963-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22326318-2d69-4163-96f3-2729ac0ed905	8db33879-438e-4e72-a0f5-46f899011432	g.chr3:123444812G>A	ENST00000360772.3	-	13	2008	c.1630C>T	c.(1630-1632)Cgg>Tgg	p.R544W	MYLK_ENST00000475616.1_Missense_Mutation_p.R544W|MYLK_ENST00000359169.1_Missense_Mutation_p.R544W|MYLK_ENST00000360304.3_Missense_Mutation_p.R544W|MYLK_ENST00000346322.5_Missense_Mutation_p.R475W			Q15746	MYLK_HUMAN	myosin light chain kinase	544	Ig-like C2-type 4.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		CAAGTGATCCGGGGCACTGGG	0.617													12	19					0	0	0.411799	0	0	A	123444812	G	A	123444812	3	1	187	1	0	0	0	0	1	0	0	0	10104	1115	39	1	4206	1	MYLK	3	123444812	Missense_Mutation	SNP	G	TCGA-FG-5963-01A-11D-1705-08	66817209	123444812	74577618	7	24375											
UMPS	7372	broad.mit.edu	37	3	124449455	124449455	+	Missense_Mutation	SNP	G	G	T			TCGA-FG-5963-01A-11D-1705-08	TCGA-FG-5963-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22326318-2d69-4163-96f3-2729ac0ed905	8db33879-438e-4e72-a0f5-46f899011432	g.chr3:124449455G>T	ENST00000232607.2	+	1	243	c.137G>T	c.(136-138)cGa>cTa	p.R46L	UMPS_ENST00000413078.2_5'UTR|UMPS_ENST00000536109.1_5'UTR|UMPS_ENST00000538242.1_5'UTR	NM_000373.3	NP_000364.1	P11172	UMPS_HUMAN	uridine monophosphate synthetase	46	OPRTase.				'de novo' pyrimidine base biosynthetic process|'de novo' UMP biosynthetic process|pyrimidine nucleoside biosynthetic process	cytosol|nucleus	orotate phosphoribosyltransferase activity|orotidine-5'-phosphate decarboxylase activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	16				GBM - Glioblastoma multiforme(114;0.146)		ATCGTGTCTCGACCGCGTCTT	0.587													11	31					2.80697e-09	3.14929e-09	0.38729	1	0	T	124449455	G	T	124449455	3	4	187	1	0	0	0	0	1	0	0	0	17041	1058	37	5	139	5	UMPS	3	124449455	Missense_Mutation	SNP	G	TCGA-FG-5963-01A-11D-1705-08	1004643	124449455	73572975	8	24376											
RAI14	26064	broad.mit.edu	37	5	34811934	34811934	+	Missense_Mutation	SNP	A	A	G			TCGA-FG-5963-01A-11D-1705-08	TCGA-FG-5963-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22326318-2d69-4163-96f3-2729ac0ed905	8db33879-438e-4e72-a0f5-46f899011432	g.chr5:34811934A>G	ENST00000265109.3	+	9	907	c.620A>G	c.(619-621)aAg>aGg	p.K207R	RAI14_ENST00000515799.1_Missense_Mutation_p.K210R|RAI14_ENST00000397449.1_Missense_Mutation_p.K200R|RAI14_ENST00000428746.2_Missense_Mutation_p.K207R|RAI14_ENST00000512629.1_Missense_Mutation_p.K207R|RAI14_ENST00000506376.1_Missense_Mutation_p.K199R|RAI14_ENST00000503673.1_Missense_Mutation_p.K207R	NM_001145522.1|NM_015577.2	NP_001138994.1|NP_056392.2	Q9P0K7	RAI14_HUMAN	retinoic acid induced 14	207						cell cortex|cytoskeleton	protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(31;0.000191)					TTAATTAAAAAGGGTGCAGAC	0.383													3	78					0	0	0.115264	0	0	G	34811934	A	G	34811934	3	3	187	1	0	0	0	0	1	0	0	0	13060	72	3	3	715	3	RAI14	5	34811934	Missense_Mutation	SNP	A	TCGA-FG-5963-01A-11D-1705-08		34811934	146103326	9	24377											
RELN	5649	broad.mit.edu	37	7	103290796	103290796	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-5963-01A-11D-1705-08	TCGA-FG-5963-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22326318-2d69-4163-96f3-2729ac0ed905	8db33879-438e-4e72-a0f5-46f899011432	g.chr7:103290796C>T	ENST00000424685.2	-	16	2086	c.1927G>A	c.(1927-1929)Gca>Aca	p.A643T	RELN_ENST00000428762.1_Missense_Mutation_p.A643T|RELN_ENST00000343529.5_Missense_Mutation_p.A643T			P78509	RELN_HUMAN	reelin	643					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CGGGTTAGTGCTGCGTTAGGA	0.403													3	77					0	0	0.115264	0	0	T	103290796	C	T	103290796	3	4	187	1	0	0	0	0	1	0	0	0	13272	797	28	2	8655	2	RELN	7	103290796	Missense_Mutation	SNP	C	TCGA-FG-5963-01A-11D-1705-08		103290796	55847867	10	24378											
COL22A1	169044	broad.mit.edu	37	8	139636001	139636001	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-5963-01A-11D-1705-08	TCGA-FG-5963-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22326318-2d69-4163-96f3-2729ac0ed905	8db33879-438e-4e72-a0f5-46f899011432	g.chr8:139636001C>T	ENST00000303045.6	-	52	4191	c.3745G>A	c.(3745-3747)Gga>Aga	p.G1249R	COL22A1_ENST00000341807.4_5'UTR|COL22A1_ENST00000435777.1_Missense_Mutation_p.G1229R	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1249	Collagen-like 12.|Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			CCCGGCTTTCCATCTCTGCCC	0.448										HNSCC(7;0.00092)			48	248					0	0	0.870114	0	0	T	139636001	C	T	139636001	3	4	187	1	0	0	0	0	1	0	0	0	3704	603	21	2	1191	2	COL22A1	8	139636001	Missense_Mutation	SNP	C	TCGA-FG-5963-01A-11D-1705-08		139636001	6728021	11	24379											
CCDC88B	283234	broad.mit.edu	37	11	64120928	64120928	+	Missense_Mutation	SNP	G	G	C			TCGA-FG-5963-01A-11D-1705-08	TCGA-FG-5963-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22326318-2d69-4163-96f3-2729ac0ed905	8db33879-438e-4e72-a0f5-46f899011432	g.chr11:64120928G>C	ENST00000356786.5	+	22	3837	c.3793G>C	c.(3793-3795)Gag>Cag	p.E1265Q	CCDC88B_ENST00000301897.4_5'UTR|CCDC88B_ENST00000359902.2_Missense_Mutation_p.E417Q|CCDC88B_ENST00000463837.1_3'UTR	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN	coiled-coil domain containing 88B	1265					microtubule cytoskeleton organization	cytoplasm	microtubule binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GCGCAGCCTGGAGAGTCGGGA	0.677													7	16					0	0	0.248553	0	0	C	64120928	G	C	64120928	3	2	187	1	0	0	0	0	1	0	0	0	2884	1175	41	5	3879	5	CCDC88B	11	64120928	Missense_Mutation	SNP	G	TCGA-FG-5963-01A-11D-1705-08		64120928	70885588	12	24380											
GUCY2C	2984	broad.mit.edu	37	12	14794127	14794127	+	Missense_Mutation	SNP	G	G	A	rs148314105		TCGA-FG-5963-01A-11D-1705-08	TCGA-FG-5963-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22326318-2d69-4163-96f3-2729ac0ed905	8db33879-438e-4e72-a0f5-46f899011432	g.chr12:14794127G>A	ENST00000261170.3	-	18	2093	c.1957C>T	c.(1957-1959)Cgc>Tgc	p.R653C		NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)	653	Protein kinase.				intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51						TTGGCTTGGCGGAGGTGCTCT	0.498													17	55					0	0	0.539581	0	0	A	14794127	G	A	14794127	3	1	187	1	0	0	0	0	1	0	0	0	6937	1116	39	1	1304	1	GUCY2C	12	14794127	Missense_Mutation	SNP	G	TCGA-FG-5963-01A-11D-1705-08		14794127	119057768	13	24381											
TUBA1B	10376	broad.mit.edu	37	12	49523049	49523049	+	Silent	SNP	A	A	G	rs1057072		TCGA-FG-5963-01A-11D-1705-08	TCGA-FG-5963-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22326318-2d69-4163-96f3-2729ac0ed905	8db33879-438e-4e72-a0f5-46f899011432	g.chr12:49523049A>G	ENST00000336023.5	-	3	445	c.351T>C	c.(349-351)ctT>ctC	p.L117L	RP11-386G11.10_ENST00000547387.1_RNA	NM_006082.2	NP_006073.2	P68363	TBA1B_HUMAN	tubulin, alpha 1b	117					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding			breast(2)|cervix(1)|endometrium(3)|large_intestine(2)|lung(4)	12						GGTCCAACACAAGGTCAATGA	0.488													4	133					0	0	0.248553	0	0	G	49523049	A	G	49523049	2	3	187	1	0	0	0	0	0	0	0	1	16806	117	5	3		3	TUBA1B	12	49523049	Silent	SNP	A	TCGA-FG-5963-01A-11D-1705-08	34728922	49523049	84328846	14	24382											
TXNDC16	57544	broad.mit.edu	37	14	52922041	52922041	+	Splice_Site	SNP	C	C	T			TCGA-FG-5963-01A-11D-1705-08	TCGA-FG-5963-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22326318-2d69-4163-96f3-2729ac0ed905	8db33879-438e-4e72-a0f5-46f899011432	g.chr14:52922041C>T	ENST00000281741.4	-	18	2214		c.e18+1		TXNDC16_ENST00000554399.1_Intron	NM_001160047.1|NM_020784.2	NP_001153519.1|NP_065835.2	Q9P2K2	TXD16_HUMAN	thioredoxin domain containing 16						cell redox homeostasis	extracellular region				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(3)|skin(1)	21	Breast(41;0.0716)					AACATACTCACAAACATTTCC	0.358													13	39					0	0	0.479597	0	0	T	52922041	C	T	52922041	5	4	187	1	0	0	0	0	0	0	1	0	16857	492	17	2	650	2	TXNDC16	14	52922041	Splice_Site	SNP	C	TCGA-FG-5963-01A-11D-1705-08		52922041	54427499	15	24383											
CAPN3	825	broad.mit.edu	37	15	42676717	42676717	+	Missense_Mutation	SNP	G	G	T			TCGA-FG-5963-01A-11D-1705-08	TCGA-FG-5963-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22326318-2d69-4163-96f3-2729ac0ed905	8db33879-438e-4e72-a0f5-46f899011432	g.chr15:42676717G>T	ENST00000397163.3	+	2	565	c.346G>T	c.(346-348)Gcc>Tcc	p.A116S	CAPN3_ENST00000356316.3_Missense_Mutation_p.A29S|CAPN3_ENST00000357568.3_Missense_Mutation_p.A116S|RP11-164J13.1_ENST00000495723.1_RNA|CAPN3_ENST00000349748.3_Missense_Mutation_p.A116S|CAPN3_ENST00000318023.7_Missense_Mutation_p.A116S	NM_000070.2	NP_000061.1	P20807	CAN3_HUMAN	calpain 3, (p94)	116	Calpain catalytic.				muscle organ development|proteolysis	cytoplasm	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	47		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;7.36e-07)		CATTGATGGAGCCAACAGAAC	0.433													23	85					0.000147802	0.000161878	0.706142	1	0	T	42676717	G	T	42676717	3	4	187	1	0	0	0	0	1	0	0	0	2646	971	34	4	404	4	CAPN3	15	42676717	Missense_Mutation	SNP	G	TCGA-FG-5963-01A-11D-1705-08		42676717	59854675	16	24384											
IGF1R	3480	broad.mit.edu	37	15	99434555	99434555	+	Splice_Site	SNP	G	G	A			TCGA-FG-5963-01A-11D-1705-08	TCGA-FG-5963-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22326318-2d69-4163-96f3-2729ac0ed905	8db33879-438e-4e72-a0f5-46f899011432	g.chr15:99434555G>A	ENST00000268035.6	+	3	1253	c.642G>A	c.(640-642)atG>atA	p.M214I	IGF1R_ENST00000558762.1_Splice_Site_p.M214I|RP11-654A16.1_ENST00000558736.1_RNA|IGF1R_ENST00000560432.1_3'UTR	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	214					anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)	TCTCCACAGTGTGCCCAAGCA	0.647													6	10					0	0	0.27861	0	0	A	99434555	G	A	99434555	5	1	187	1	0	0	0	0	0	0	1	0	7615	1391	48	2	652	2	IGF1R	15	99434555	Splice_Site	SNP	G	TCGA-FG-5963-01A-11D-1705-08	56757838	99434555	3096837	17	24385											
TP53	7157	broad.mit.edu	37	17	7578458	7578458	+	Missense_Mutation	SNP	G	G	C			TCGA-FG-5963-01A-11D-1705-08	TCGA-FG-5963-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22326318-2d69-4163-96f3-2729ac0ed905	8db33879-438e-4e72-a0f5-46f899011432	g.chr17:7578458G>C	ENST00000420246.2	-	5	604	c.472C>G	c.(472-474)Cgc>Ggc	p.R158G	TP53_ENST00000445888.2_Missense_Mutation_p.R158G|TP53_ENST00000359597.4_Missense_Mutation_p.R158G|TP53_ENST00000455263.2_Missense_Mutation_p.R158G|TP53_ENST00000413465.2_Missense_Mutation_p.R158G|TP53_ENST00000269305.4_Missense_Mutation_p.R158G	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	158	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> C (in sporadic cancers; somatic mutation).|R -> F (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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.R158C(17)|p.R158G(16)|p.0?(8)|p.R158fs(6)|p.R158fs*12(6)|p.R158fs*11(6)|p.R65fs(2)|p.R65G(2)|p.R158_A159delRA(2)|p.R156_I162delRVRAMAI(2)|p.R26G(2)|p.V157fs*9(2)|p.P153fs*22(2)|p.R26fs(2)|p.V157fs*22(2)|p.V157_C176del20(1)|p.R156_A161delRVRAMA(1)|p.R158F(1)|p.P151_V173del23(1)|p.R158fs*24(1)|p.R156_R158delRVR(1)|p.R156fs*18(1)|p.R26fs*11(1)|p.R156_A161del(1)|p.V157_M160delVRAM(1)|p.R156fs*12(1)|p.V157_R158delVR(1)|p.S149fs*72(1)|p.A159fs*21(1)|p.T155_A161delTRVRAMA(1)|p.G154fs*22(1)|p.R65fs*11(1)|p.R156fs*20(1)|p.V157_I162delVRAMAI(1)|p.V157fs*21(1)|p.R158fs*8(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)		GCCATGGCGCGGACGCGGGTG	0.622		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)			19	33					0	0	0.575678	0	0	C	7578458	G	C	7578458	3	2	187	1	0	0	0	0	1	0	0	0	16442	1116	39	5	826	5	TP53	17	7578458	Missense_Mutation	SNP	G	TCGA-FG-5963-01A-11D-1705-08		7578458	73616752	18	24386											
MYH2	4620	broad.mit.edu	37	17	10442867	10442867	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-5963-01A-11D-1705-08	TCGA-FG-5963-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22326318-2d69-4163-96f3-2729ac0ed905	8db33879-438e-4e72-a0f5-46f899011432	g.chr17:10442867G>A	ENST00000245503.5	-	13	1544	c.1160C>T	c.(1159-1161)gCg>gTg	p.A387V	MYH2_ENST00000397183.2_Missense_Mutation_p.A387V|MYH2_ENST00000532183.2_Missense_Mutation_p.A387V|CTC-297N7.11_ENST00000587182.2_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	387	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.A387V(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						GAGGTAGGCCGCCTTGTCAGC	0.428													39	53					0	0	0.796494	0	0	A	10442867	G	A	10442867	3	1	187	1	0	0	0	0	1	0	0	0	10083	1087	38	1	4777	1	MYH2	17	10442867	Missense_Mutation	SNP	G	TCGA-FG-5963-01A-11D-1705-08	2864409	10442867	70752343	19	24387											
FAM83G	644815	broad.mit.edu	37	17	18874945	18874945	+	Silent	SNP	G	G	A			TCGA-FG-5963-01A-11D-1705-08	TCGA-FG-5963-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22326318-2d69-4163-96f3-2729ac0ed905	8db33879-438e-4e72-a0f5-46f899011432	g.chr17:18874945G>A	ENST00000388995.6	-	6	2422	c.2199C>T	c.(2197-2199)aaC>aaT	p.N733N	SLC5A10_ENST00000395645.3_Intron|FAM83G_ENST00000345041.4_Silent_p.N733N|SLC5A10_ENST00000395643.2_Intron|SLC5A10_ENST00000395642.1_Intron|SLC5A10_ENST00000395647.2_Intron|SLC5A10_ENST00000417251.2_Intron|FAM83G_ENST00000585154.2_Silent_p.N733N|SLC5A10_ENST00000317977.6_Intron			A6ND36	FA83G_HUMAN	family with sequence similarity 83, member G	733										central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						CTGGGCCAGCGTTTCTGGTAG	0.642													10	38					0	0	0.38729	0	0	A	18874945	G	A	18874945	2	1	187	1	0	0	0	0	0	0	0	1	5671	1136	40	1		1	FAM83G	17	18874945	Silent	SNP	G	TCGA-FG-5963-01A-11D-1705-08	8432078	18874945	62320265	20	24388											
NF1	4763	broad.mit.edu	37	17	29677227	29677227	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FG-5963-01A-11D-1705-08	TCGA-FG-5963-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22326318-2d69-4163-96f3-2729ac0ed905	8db33879-438e-4e72-a0f5-46f899011432	g.chr17:29677227C>T	ENST00000358273.4	+	50	7731	c.7348C>T	c.(7348-7350)Cga>Tga	p.R2450*	NF1_ENST00000356175.3_Nonsense_Mutation_p.R2429*|NF1_ENST00000417592.2_Nonsense_Mutation_p.R163*|NF1_ENST00000444181.2_Nonsense_Mutation_p.R243*	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	2450					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.R2450*(6)|p.?(3)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TGAAGAAGTTCGAAGTCGCTG	0.363			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			24	94					0	0	0.681144	0	0	T	29677227	C	T	29677227	4	4	187	1	0	0	0	0	0	1	0	0	10403	876	31	1	7607	1	NF1	17	29677227	Nonsense_Mutation	SNP	C	TCGA-FG-5963-01A-11D-1705-08	10802282	29677227	51517983	21	24389											
NF1	4763	broad.mit.edu	37	17	29683983	29683984	+	Frame_Shift_Ins	INS	-	-	A			TCGA-FG-5963-01A-11D-1705-08	TCGA-FG-5963-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22326318-2d69-4163-96f3-2729ac0ed905	8db33879-438e-4e72-a0f5-46f899011432	g.chr17:29683983_29683984insA	ENST00000358273.4	+	53	8127_8128	c.7744_7745insA	c.(7744-7746)cagfs	p.Q2582fs	NF1_ENST00000356175.3_Frame_Shift_Ins_p.Q2561fs|NF1_ENST00000417592.2_3'UTR|NF1_ENST00000444181.2_Frame_Shift_Ins_p.Q375fs	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	2582					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(3)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TGCAGAAACTCAGAGGATTTCC	0.371			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			37	194	---	---	---	---						A	29683984	-	A	29683983	7	5	187	1	0	1	1	0	0	0	0	0	10403	827	29	0	8015	0	NF1	17	29683983	Frame_Shift_Ins	INS	-	TCGA-FG-5963-01A-11D-1705-08	6756	29683983	51511227	22	24390											
ACACA	31	broad.mit.edu	37	17	35580444	35580444	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-5963-01A-11D-1705-08	TCGA-FG-5963-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22326318-2d69-4163-96f3-2729ac0ed905	8db33879-438e-4e72-a0f5-46f899011432	g.chr17:35580444C>T	ENST00000353139.5	-	28	4034	c.3553G>A	c.(3553-3555)Gca>Aca	p.A1185T	ACACA_ENST00000360679.3_Missense_Mutation_p.A1090T|ACACA_ENST00000394406.2_Missense_Mutation_p.A1148T|ACACA_ENST00000335166.5_Missense_Mutation_p.A1070T	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	1148					acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	TCCAGAGCTGCCATCCTCACT	0.403													20	118					0	0	0.575678	0	0	T	35580444	C	T	35580444	3	4	187	1	0	0	0	0	1	0	0	0	106	739	26	2	3714	2	ACACA	17	35580444	Missense_Mutation	SNP	C	TCGA-FG-5963-01A-11D-1705-08	5896461	35580444	45614766	23	24391											
ITGA2B	3674	broad.mit.edu	37	17	42455842	42455842	+	Missense_Mutation	SNP	A	A	C			TCGA-FG-5963-01A-11D-1705-08	TCGA-FG-5963-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22326318-2d69-4163-96f3-2729ac0ed905	8db33879-438e-4e72-a0f5-46f899011432	g.chr17:42455842A>C	ENST00000262407.5	-	20	2013	c.1982T>G	c.(1981-1983)gTc>gGc	p.V661G	ITGA2B_ENST00000353281.4_Missense_Mutation_p.V661G	NM_000419.3	NP_000410.2	P08514	ITA2B_HUMAN	integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)	661					axon guidance|integrin-mediated signaling pathway|platelet activation|platelet degranulation	integrin complex|platelet alpha granule membrane	identical protein binding|receptor activity			biliary_tract(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.191)	Tirofiban(DB00775)	CAGCTCCAGGACATTATCTGC	0.657													4	17					0	0	0.184627	0	0	C	42455842	A	C	42455842	3	2	187	1	0	0	0	0	1	0	0	0	7920	275	10	5	1181	5	ITGA2B	17	42455842	Missense_Mutation	SNP	A	TCGA-FG-5963-01A-11D-1705-08	6875398	42455842	38739368	24	24392											
MAPRE2	10982	broad.mit.edu	37	18	32677539	32677539	+	Missense_Mutation	SNP	G	G	T			TCGA-FG-5963-01A-11D-1705-08	TCGA-FG-5963-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22326318-2d69-4163-96f3-2729ac0ed905	8db33879-438e-4e72-a0f5-46f899011432	g.chr18:32677539G>T	ENST00000436190.2	+	4	618	c.344G>T	c.(343-345)cGa>cTa	p.R115L	MAPRE2_ENST00000588910.1_Missense_Mutation_p.R127L|MAPRE2_ENST00000300249.5_Missense_Mutation_p.R127L|MAPRE2_ENST00000538170.2_Missense_Mutation_p.R74L|MAPRE2_ENST00000589699.1_Missense_Mutation_p.R84L|MAPRE2_ENST00000413393.1_Missense_Mutation_p.R84L	NM_001143827.2	NP_001137299.1	Q15555	MARE2_HUMAN	microtubule-associated protein, RP/EB family, member 2	127	CH.				cell division|cell proliferation|mitosis|signal transduction	cytoplasm|microtubule	microtubule binding			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)	9						TCATTTAAGCGAATGAACGTT	0.343													7	33					6.5536e-12	7.72989e-12	0.27861	1	0	T	32677539	G	T	32677539	3	4	187	1	0	0	0	0	1	0	0	0	9345	1058	37	5	484	5	MAPRE2	18	32677539	Missense_Mutation	SNP	G	TCGA-FG-5963-01A-11D-1705-08		32677539	45399709	25	24393											
DYM	54808	broad.mit.edu	37	18	46812851	46812851	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-5963-01A-11D-1705-08	TCGA-FG-5963-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22326318-2d69-4163-96f3-2729ac0ed905	8db33879-438e-4e72-a0f5-46f899011432	g.chr18:46812851G>A	ENST00000269445.6	-	9	1356	c.899C>T	c.(898-900)gCg>gTg	p.A300V	DYM_ENST00000442713.2_Missense_Mutation_p.A110V	NM_017653.3	NP_060123.3	Q7RTS9	DYM_HUMAN	dymeclin	300						Golgi apparatus				NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	18						GGGGTTTGGCGCATCTGAGGC	0.488													17	107					0	0	0.520397	0	0	A	46812851	G	A	46812851	3	1	187	1	0	0	0	0	1	0	0	0	4866	1087	38	1	1146	1	DYM	18	46812851	Missense_Mutation	SNP	G	TCGA-FG-5963-01A-11D-1705-08	14135312	46812851	31264397	26	24394											
LILRA1	11024	broad.mit.edu	37	19	55107882	55107882	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-5963-01A-11D-1705-08	TCGA-FG-5963-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22326318-2d69-4163-96f3-2729ac0ed905	8db33879-438e-4e72-a0f5-46f899011432	g.chr19:55107882G>A	ENST00000251372.3	+	7	1369	c.1187G>A	c.(1186-1188)aGg>aAg	p.R396K	LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000396321.2_Intron|LILRA1_ENST00000453777.1_Intron|LILRB1_ENST00000448689.1_Intron|LILRA1_ENST00000473156.1_3'UTR	NM_006863.2	NP_006854.1	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1	396	Ig-like C2-type 4.				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		GGGACCTACAGGTGCTACGGC	0.587													22	88					0	0	0.608945	0	0	A	55107882	G	A	55107882	3	1	187	1	0	0	0	0	1	0	0	0	8824	1000	35	2	1209	2	LILRA1	19	55107882	Missense_Mutation	SNP	G	TCGA-FG-5963-01A-11D-1705-08		55107882	4021101	27	24395											
ZNF17	7565	broad.mit.edu	37	19	57932287	57932287	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-5963-01A-11D-1705-08	TCGA-FG-5963-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22326318-2d69-4163-96f3-2729ac0ed905	8db33879-438e-4e72-a0f5-46f899011432	g.chr19:57932287G>A	ENST00000307658.7	+	4	1696	c.1433G>A	c.(1432-1434)gGc>gAc	p.G478D	AC004076.7_ENST00000597410.1_Intron|ZNF17_ENST00000601808.1_Missense_Mutation_p.G476D			P17021	ZNF17_HUMAN	zinc finger protein 17	476					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0234)|GBM - Glioblastoma multiforme(193;0.000426)|Lung(386;0.176)		AGTGAATGTGGCAAATTCTTT	0.413													5	138					0	0	0.184627	0	0	A	57932287	G	A	57932287	3	1	187	1	0	0	0	0	1	0	0	0	17801	1203	42	2	1437	2	ZNF17	19	57932287	Missense_Mutation	SNP	G	TCGA-FG-5963-01A-11D-1705-08	2824405	57932287	1196696	28	24396											
CTCFL	140690	broad.mit.edu	37	20	56093824	56093824	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-5963-01A-11D-1705-08	TCGA-FG-5963-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22326318-2d69-4163-96f3-2729ac0ed905	8db33879-438e-4e72-a0f5-46f899011432	g.chr20:56093824G>A	ENST00000608263.1	-	4	1710	c.1049C>T	c.(1048-1050)gCc>gTc	p.A350V	CTCFL_ENST00000608903.1_Missense_Mutation_p.A88V|CTCFL_ENST00000609232.1_Missense_Mutation_p.A350V|CTCFL_ENST00000433949.3_Missense_Mutation_p.A145V|CTCFL_ENST00000502686.2_Missense_Mutation_p.A88V|CTCFL_ENST00000539382.1_Missense_Mutation_p.A145V|CTCFL_ENST00000481655.2_Missense_Mutation_p.A350V|CTCFL_ENST00000432255.2_Missense_Mutation_p.A350V|CTCFL_ENST00000371196.2_Missense_Mutation_p.A350V|CTCFL_ENST00000429804.3_Missense_Mutation_p.A350V|CTCFL_ENST00000608440.1_Missense_Mutation_p.A350V|CTCFL_ENST00000422869.2_Missense_Mutation_p.A350V|CTCFL_ENST00000608158.1_Missense_Mutation_p.A350V|CTCFL_ENST00000243914.3_Missense_Mutation_p.A350V|CTCFL_ENST00000423479.3_Missense_Mutation_p.A350V|CTCFL_ENST00000608425.1_Missense_Mutation_p.A350V|CTCFL_ENST00000608858.1_5'UTR	NM_001269041.1	NP_001255970.1	Q8NI51	CTCFL_HUMAN	CCCTC-binding factor (zinc finger protein)-like						cell cycle|DNA methylation involved in gamete generation|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent	cytoplasm|nucleus	histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			CTCCACACTGGCATACTTGCA	0.443													4	172					0	0	0.150653	0	0	A	56093824	G	A	56093824	3	1	187	1	0	0	0	0	1	0	0	0	4025	1203	42	2	970	2	CTCFL	20	56093824	Missense_Mutation	SNP	G	TCGA-FG-5963-01A-11D-1705-08		56093824	6931696	29	24397											
RTEL1	51750	broad.mit.edu	37	20	62321451	62321451	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-5963-01A-11D-1705-08	TCGA-FG-5963-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22326318-2d69-4163-96f3-2729ac0ed905	8db33879-438e-4e72-a0f5-46f899011432	g.chr20:62321451C>T	ENST00000318100.4	+	25	2980	c.2153C>T	c.(2152-2154)gCc>gTc	p.A718V	RTEL1_ENST00000370018.3_Missense_Mutation_p.A718V|RTEL1_ENST00000370003.1_5'UTR|RTEL1_ENST00000360203.5_Missense_Mutation_p.A718V|RTEL1_ENST00000508582.2_Missense_Mutation_p.A742V|RTEL1-TNFRSF6B_ENST00000482936.1_Missense_Mutation_p.A718V	NM_001283009.1	NP_001269938.1	Q9NZ71	RTEL1_HUMAN	regulator of telomere elongation helicase 1	718					DNA repair|regulation of double-strand break repair via homologous recombination|telomere maintenance	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)			TTCGCCTTTGCCGACGCAAGA	0.617													3	82					0	0	0.150653	0	0	T	62321451	C	T	62321451	3	4	187	1	0	0	0	0	1	0	0	0	13772	739	26	2	2247	2	RTEL1	20	62321451	Missense_Mutation	SNP	C	TCGA-FG-5963-01A-11D-1705-08	6227627	62321451	704069	30	24398											
LMF2	91289	broad.mit.edu	37	22	50943889	50943889	+	Missense_Mutation	SNP	C	C	A			TCGA-FG-5963-01A-11D-1705-08	TCGA-FG-5963-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22326318-2d69-4163-96f3-2729ac0ed905	8db33879-438e-4e72-a0f5-46f899011432	g.chr22:50943889C>A	ENST00000216080.5	-	7	1087	c.919G>T	c.(919-921)Gtg>Ttg	p.V307L	LMF2_ENST00000474879.2_Missense_Mutation_p.V332L|LMF2_ENST00000380796.3_Missense_Mutation_p.V332L			Q9BU23	LMF2_HUMAN	lipase maturation factor 2	332						endoplasmic reticulum membrane|integral to membrane				breast(1)|cervix(1)|kidney(1)|lung(4)|prostate(1)|skin(2)	10		all_cancers(38;1.31e-09)|all_epithelial(38;1.81e-08)|all_lung(38;0.000817)|Breast(42;0.00387)|Lung NSC(38;0.0124)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		AAGTAGTGCACAGTGCCATAG	0.662													20	85					7.45023e-12	8.56776e-12	0.592651	1	0	A	50943889	C	A	50943889	3	1	187	1	0	0	0	0	1	0	0	0	8887	478	17	5	1161	5	LMF2	22	50943889	Missense_Mutation	SNP	C	TCGA-FG-5963-01A-11D-1705-08		50943889	360677	31	24399											
ZNF630	57232	broad.mit.edu	37	X	47920207	47920207	+	Missense_Mutation	SNP	C	C	A			TCGA-FG-5963-01A-11D-1705-08	TCGA-FG-5963-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22326318-2d69-4163-96f3-2729ac0ed905	8db33879-438e-4e72-a0f5-46f899011432	g.chrX:47920207C>A	ENST00000442455.3	-	3	434	c.91G>T	c.(91-93)Gtc>Ttc	p.V31F	ZNF630-AS1_ENST00000436124.1_RNA|ZNF630_ENST00000276054.4_5'UTR|ZNF630_ENST00000409324.3_Missense_Mutation_p.V45F	NM_001190255.1	NP_001177184.1	Q2M218	ZN630_HUMAN	zinc finger protein 630	45	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(6)|lung(11)|ovary(1)	19						CCCACGGAGACCAGGTGATTA	0.483													7	4					0.00198382	0.00212222	0.248553	1	0	A	47920207	C	A	47920207	3	1	187	1	0	0	0	0	1	0	0	0	18111	507	18	5	1852	5	ZNF630	23	47920207	Missense_Mutation	SNP	C	TCGA-FG-5963-01A-11D-1705-08		47920207	107350353	32	24400											
GSPT2	23708	broad.mit.edu	37	X	51488255	51488255	+	Missense_Mutation	SNP	T	T	A			TCGA-FG-5963-01A-11D-1705-08	TCGA-FG-5963-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22326318-2d69-4163-96f3-2729ac0ed905	8db33879-438e-4e72-a0f5-46f899011432	g.chrX:51488255T>A	ENST00000340438.4	+	1	1775	c.1533T>A	c.(1531-1533)gaT>gaA	p.D511E		NM_018094.4	NP_060564.2	Q8IYD1	ERF3B_HUMAN	G1 to S phase transition 2	511					cell cycle|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|translational termination	cytoplasm	GTP binding|GTPase activity|protein binding			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20	Ovarian(276;0.236)					TACTTTGTGATCCTAGTAACC	0.418													23	25					0	0	0.624587	0	0	A	51488255	T	A	51488255	3	1	187	1	0	0	0	0	1	0	0	0	6868	1432	50	4	1535	4	GSPT2	23	51488255	Missense_Mutation	SNP	T	TCGA-FG-5963-01A-11D-1705-08	3568048	51488255	103782305	33	24401											
ATRX	546	broad.mit.edu	37	X	76813115	76813115	+	Splice_Site	SNP	C	C	T			TCGA-FG-5963-01A-11D-1705-08	TCGA-FG-5963-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22326318-2d69-4163-96f3-2729ac0ed905	8db33879-438e-4e72-a0f5-46f899011432	g.chrX:76813115C>T	ENST00000373344.5	-	30	6720	c.6506G>A	c.(6505-6507)gGa>gAa	p.G2169E	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Splice_Site_p.G2131E	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	2169	Helicase C-terminal.				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)	TTCCATGGTTCCCTTTGTAAA	0.328			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						19	26					0	0	0.575678	0	0	T	76813115	C	T	76813115	5	4	187	1	0	0	0	0	0	0	1	0	1206	869	30	2	996	2	ATRX	23	76813115	Splice_Site	SNP	C	TCGA-FG-5963-01A-11D-1705-08	25324860	76813115	78457445	34	24402											
UQCRH	7388	broad.mit.edu	37	1	46775912	46775912	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-5964-01A-11D-1705-08	TCGA-FG-5964-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6888be2-4517-41e4-a801-9c915f24e737	96d57c40-fcc5-4dc4-857c-b2d334627206	g.chr1:46775912G>A	ENST00000311672.5	+	3	303	c.167G>A	c.(166-168)cGt>cAt	p.R56H		NM_001089591.1|NM_006004.2	NP_001083060.1|NP_005995.2	P07919	QCR6_HUMAN	ubiquinol-cytochrome c reductase hinge protein	56					aerobic respiration|mitochondrial electron transport, ubiquinol to cytochrome c		ubiquinol-cytochrome-c reductase activity			large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	4	Acute lymphoblastic leukemia(166;0.155)					TGTGATGAGCGTGTATCCTCT	0.512													5	48					0	0	0.248553	0	0	A	46775912	G	A	46775912	3	1	188	1	0	0	0	0	1	0	0	0	17082	1145	40	1	177	1	UQCRH	1	46775912	Missense_Mutation	SNP	G	TCGA-FG-5964-01A-11D-1705-08		46775912	202474709	1	24403											
OBSCN	84033	broad.mit.edu	37	1	228529314	228529314	+	Splice_Site	SNP	G	G	A			TCGA-FG-5964-01A-11D-1705-08	TCGA-FG-5964-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6888be2-4517-41e4-a801-9c915f24e737	96d57c40-fcc5-4dc4-857c-b2d334627206	g.chr1:228529314G>A	ENST00000570156.2	+	85	20978	c.20904G>A	c.(20902-20904)tgG>tgA	p.W6968*	OBSCN_ENST00000284548.11_Splice_Site_p.W6011*|OBSCN_ENST00000366707.4_Splice_Site_p.W3645*|OBSCN_ENST00000422127.1_Splice_Site_p.W6011*|OBSCN_ENST00000366709.4_Splice_Site_p.W3130*	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	6011					apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				TGCCTGTGTGGCGTGAGTGTC	0.672													5	18					0	0	0.217242	0	0	A	228529314	G	A	228529314	5	1	188	1	0	0	0	0	0	0	1	0	10860	1217	42	2	18323	2	OBSCN	1	228529314	Splice_Site	SNP	G	TCGA-FG-5964-01A-11D-1705-08	181753402	228529314	20721307	2	24404											
SIPA1L2	57568	broad.mit.edu	37	1	232607260	232607260	+	Silent	SNP	C	C	T			TCGA-FG-5964-01A-11D-1705-08	TCGA-FG-5964-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6888be2-4517-41e4-a801-9c915f24e737	96d57c40-fcc5-4dc4-857c-b2d334627206	g.chr1:232607260C>T	ENST00000366630.1	-	7	2458	c.2100G>A	c.(2098-2100)agG>agA	p.R700R	SIPA1L2_ENST00000262861.4_Silent_p.R700R			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	700	Rap-GAP.				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				TTCCTATGTGCCTTTTCCTCA	0.383													26	66					0	0	0.681144	0	0	T	232607260	C	T	232607260	2	4	188	1	0	0	0	0	0	0	0	1	14385	738	26	2		2	SIPA1L2	1	232607260	Silent	SNP	C	TCGA-FG-5964-01A-11D-1705-08	4077946	232607260	16643361	3	24405											
ALMS1	7840	broad.mit.edu	37	2	73836722	73836722	+	Missense_Mutation	SNP	A	A	G			TCGA-FG-5964-01A-11D-1705-08	TCGA-FG-5964-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6888be2-4517-41e4-a801-9c915f24e737	96d57c40-fcc5-4dc4-857c-b2d334627206	g.chr2:73836722A>G	ENST00000264448.6	+	23	12598	c.12487A>G	c.(12487-12489)Aaa>Gaa	p.K4163E	ALMS1_ENST00000409009.1_Missense_Mutation_p.K4121E	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	4163					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						TCTGGGGAGAAAAGTTCCCTG	0.433													11	68					0	0	0.457914	0	0	G	73836722	A	G	73836722	3	3	188	1	0	0	0	0	1	0	0	0	531	15	1	3	12577	3	ALMS1	2	73836722	Missense_Mutation	SNP	A	TCGA-FG-5964-01A-11D-1705-08		73836722	169362651	4	24406											
MARCO	8685	broad.mit.edu	37	2	119739756	119739756	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-5964-01A-11D-1705-08	TCGA-FG-5964-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6888be2-4517-41e4-a801-9c915f24e737	96d57c40-fcc5-4dc4-857c-b2d334627206	g.chr2:119739756C>T	ENST00000541757.1	+	12	1072	c.692C>T	c.(691-693)cCg>cTg	p.P231L	MARCO_ENST00000327097.4_Missense_Mutation_p.P309L			Q9UEW3	MARCO_HUMAN	macrophage receptor with collagenous structure	309	Collagen-like.				cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						CAGGGTGTTCCGGGCCCTCCT	0.642													15	25					0	0	0.500413	0	0	T	119739756	C	T	119739756	3	4	188	1	0	0	0	0	1	0	0	0	9361	652	23	1	968	1	MARCO	2	119739756	Missense_Mutation	SNP	C	TCGA-FG-5964-01A-11D-1705-08	45903034	119739756	123459617	5	24407											
WDR33	55339	broad.mit.edu	37	2	128463958	128463961	+	Frame_Shift_Del	DEL	CTCC	CTCC	-			TCGA-FG-5964-01A-11D-1705-08	TCGA-FG-5964-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6888be2-4517-41e4-a801-9c915f24e737	96d57c40-fcc5-4dc4-857c-b2d334627206	g.chr2:128463958_128463961delCTCC	ENST00000322313.4	-	22	4105_4108	c.3947_3950delGGAG	c.(3946-3951)gggagtfs	p.GS1316fs		NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33	1316					postreplication repair|spermatogenesis	collagen|nucleus	protein binding			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		GTTCATGTTACTCCCTCTACCCCA	0.613													11	187	---	---	---	---						-	128463961	CTCC	-	128463958	7	5	188	1	0	1	0	1	0	0	0	0	17347	565	20	0	64	0	WDR33	2	128463958	Frame_Shift_Del	DEL	CTCC	TCGA-FG-5964-01A-11D-1705-08	8724202	128463958	114735415	6	24408											
CLK1	1195	broad.mit.edu	37	2	201726490	201726493	+	Frame_Shift_Del	DEL	CTTC	CTTC	-			TCGA-FG-5964-01A-11D-1705-08	TCGA-FG-5964-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6888be2-4517-41e4-a801-9c915f24e737	96d57c40-fcc5-4dc4-857c-b2d334627206	g.chr2:201726490_201726493delCTTC	ENST00000434813.2	-	2	553_556	c.219_222delGAAG	c.(217-222)aggaagfs	p.RK73fs	CLK1_ENST00000492793.1_Intron|CLK1_ENST00000321356.4_Frame_Shift_Del_p.RK31fs	NM_001162407.1	NP_001155879.1	P49759	CLK1_HUMAN	CDC-like kinase 1	31					cell proliferation	nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity			NS(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(12)|ovary(1)|pancreas(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						TATGTGATCTCTTCCTTCTTTTAT	0.397													45	166	---	---	---	---						-	201726493	CTTC	-	201726490	7	5	188	1	0	1	0	1	0	0	0	0	3559	912	32	0	1406	0	CLK1	2	201726490	Frame_Shift_Del	DEL	CTTC	TCGA-FG-5964-01A-11D-1705-08	73262532	201726490	41472883	7	24409											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-FG-5964-01A-11D-1705-08	TCGA-FG-5964-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6888be2-4517-41e4-a801-9c915f24e737	96d57c40-fcc5-4dc4-857c-b2d334627206	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	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								15	59					0	0	0.500413	0	0	T	209113112	C	T	209113112	3	4	188	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-FG-5964-01A-11D-1705-08	7386622	209113112	34086261	8	24410											
FANCD2	2177	broad.mit.edu	37	3	10136015	10136015	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-5964-01A-11D-1705-08	TCGA-FG-5964-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6888be2-4517-41e4-a801-9c915f24e737	96d57c40-fcc5-4dc4-857c-b2d334627206	g.chr3:10136015C>T	ENST00000287647.3	+	40	4024	c.3931C>T	c.(3931-3933)Ccg>Tcg	p.P1311S	FANCD2OS_ENST00000436517.1_Intron|FANCD2_ENST00000383806.1_3'UTR|FANCD2_ENST00000383807.1_Missense_Mutation_p.P1311S|FANCD2OS_ENST00000524279.1_Intron|FANCD2_ENST00000419585.1_Missense_Mutation_p.P1311S	NM_033084.3	NP_149075.2	Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	1311					DNA repair|response to gamma radiation	nucleoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		GCAATGTATGCCGCTCCTAGA	0.458			"D, Mis, N, F"			"AML, leukemia"		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				5	356					0	0	0.217242	0	0	T	10136015	C	T	10136015	3	4	188	1	0	0	0	0	1	0	0	0	5698	739	26	2	4085	2	FANCD2	3	10136015	Missense_Mutation	SNP	C	TCGA-FG-5964-01A-11D-1705-08		10136015	187886415	9	24411											
HCLS1	3059	broad.mit.edu	37	3	121351926	121351926	+	Missense_Mutation	SNP	C	C	A			TCGA-FG-5964-01A-11D-1705-08	TCGA-FG-5964-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6888be2-4517-41e4-a801-9c915f24e737	96d57c40-fcc5-4dc4-857c-b2d334627206	g.chr3:121351926C>A	ENST00000314583.3	-	11	1087	c.996G>T	c.(994-996)caG>caT	p.Q332H	HCLS1_ENST00000473883.1_5'UTR|HCLS1_ENST00000428394.2_Missense_Mutation_p.Q295H	NM_005335.4	NP_005326	P14317	HCLS1_HUMAN	hematopoietic cell-specific Lyn substrate 1	332					erythrocyte differentiation|intracellular signal transduction|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of STAT protein|response to hormone stimulus	mitochondrion|nucleus|plasma membrane	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				GBM - Glioblastoma multiforme(114;0.0912)		CCGGGAGAGTCTGCCTAATGG	0.587													6	19					8.12818e-05	8.61588e-05	0.248553	1	0	A	121351926	C	A	121351926	3	1	188	1	0	0	0	0	1	0	0	0	7036	912	32	4	480	4	HCLS1	3	121351926	Missense_Mutation	SNP	C	TCGA-FG-5964-01A-11D-1705-08	111215911	121351926	76670504	10	24412											
RBPJ	3516	broad.mit.edu	37	4	26426086	26426088	+	In_Frame_Del	DEL	TTT	TTT	-			TCGA-FG-5964-01A-11D-1705-08	TCGA-FG-5964-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6888be2-4517-41e4-a801-9c915f24e737	96d57c40-fcc5-4dc4-857c-b2d334627206	g.chr4:26426086_26426088delTTT	ENST00000342320.4	+	6	792_794	c.616_618delTTT	c.(616-618)tttdel	p.F207del	RBPJ_ENST00000507561.1_In_Frame_Del_p.F186del|RBPJ_ENST00000342295.1_In_Frame_Del_p.F221del|RBPJ_ENST00000504907.1_In_Frame_Del_p.F207del|RBPJ_ENST00000348160.4_In_Frame_Del_p.F208del|RBPJ_ENST00000355476.3_In_Frame_Del_p.F207del|RBPJ_ENST00000361572.6_In_Frame_Del_p.F221del|RBPJ_ENST00000345843.3_In_Frame_Del_p.F206del			Q06330	SUH_HUMAN	recombination signal binding protein for immunoglobulin kappa J region	221					DNA recombination|negative regulation of transcription, DNA-dependent|positive regulation of transcription of Notch receptor target	cytoplasm|nucleolus|nucleoplasm	DNA binding|protein binding|recombinase activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)	15		Breast(46;0.0503)				GTGGGGAGCCTTTTTTATTCATC	0.36													28	79	---	---	---	---						-	26426088	TTT	-	26426086	7	5	188	1	0	1	0	1	0	0	0	0	13213	1609	56	0	743	0	RBPJ	4	26426086	In_Frame_Del	DEL	TTT	TCGA-FG-5964-01A-11D-1705-08		26426086	164728190	11	24413											
BBS7	55212	broad.mit.edu	37	4	122782768	122782768	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-5964-01A-11D-1705-08	TCGA-FG-5964-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6888be2-4517-41e4-a801-9c915f24e737	96d57c40-fcc5-4dc4-857c-b2d334627206	g.chr4:122782768G>A	ENST00000264499.4	-	4	415	c.232C>T	c.(232-234)Cct>Tct	p.P78S	BBS7_ENST00000506636.1_Missense_Mutation_p.P78S	NM_176824.2	NP_789794.1	Q8IWZ6	BBS7_HUMAN	Bardet-Biedl syndrome 7	78					cilium morphogenesis|digestive tract morphogenesis|fat cell differentiation|heart looping|melanosome transport|pigment granule aggregation in cell center|response to stimulus|visual perception	BBSome|centrosome|cilium membrane	protein binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						TTCTCCTGAGGTGTGTTGATA	0.418									Bardet-Biedl syndrome				23	10					0	0	0.639603	0	0	A	122782768	G	A	122782768	3	1	188	1	0	0	0	0	1	0	0	0	1339	1261	44	2	1984	2	BBS7	4	122782768	Missense_Mutation	SNP	G	TCGA-FG-5964-01A-11D-1705-08	96356682	122782768	68371508	12	24414											
CAST	831	broad.mit.edu	37	5	96077000	96077000	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-5964-01A-11D-1705-08	TCGA-FG-5964-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6888be2-4517-41e4-a801-9c915f24e737	96d57c40-fcc5-4dc4-857c-b2d334627206	g.chr5:96077000G>A	ENST00000395813.1	+	14	1135	c.949G>A	c.(949-951)Gcc>Acc	p.A317T	CAST_ENST00000341926.3_Missense_Mutation_p.A234T|CAST_ENST00000511782.1_Missense_Mutation_p.A220T|CAST_ENST00000504465.1_Missense_Mutation_p.A162T|CAST_ENST00000508830.1_Missense_Mutation_p.A317T|CAST_ENST00000359176.4_Missense_Mutation_p.A298T|CAST_ENST00000509903.1_Missense_Mutation_p.A199T|CAST_ENST00000348386.3_3'UTR|CAST_ENST00000338252.3_Missense_Mutation_p.A221T|CTC-506B8.1_ENST00000502568.1_RNA|CAST_ENST00000325674.7_Missense_Mutation_p.A282T|CAST_ENST00000508608.1_Missense_Mutation_p.A280T|CAST_ENST00000395812.2_Missense_Mutation_p.A276T|CAST_ENST00000511049.1_Missense_Mutation_p.A220T|CAST_ENST00000309190.5_Missense_Mutation_p.A212T|CAST_ENST00000510756.1_Missense_Mutation_p.A295T	NM_001284213.1	NP_001271142.1	P20810	ICAL_HUMAN	calpastatin	234							calcium-dependent cysteine-type endopeptidase inhibitor activity|protein binding			breast(1)|central_nervous_system(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(5)|ovary(1)|skin(2)	22		all_cancers(142;5.27e-07)|all_epithelial(76;8.21e-10)|all_lung(232;0.000396)|Lung NSC(167;0.000539)|Ovarian(225;0.024)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;6.85e-15)		TGCTATAGACGCCTTGTCATC	0.433													21	29					0	0	0.608945	0	0	A	96077000	G	A	96077000	3	1	188	1	0	0	0	0	1	0	0	0	2702	1087	38	1	1003	1	CAST	5	96077000	Missense_Mutation	SNP	G	TCGA-FG-5964-01A-11D-1705-08		96077000	84838260	13	24415											
PCDHGC4	56098	broad.mit.edu	37	5	140866540	140866540	+	Silent	SNP	A	A	G			TCGA-FG-5964-01A-11D-1705-08	TCGA-FG-5964-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6888be2-4517-41e4-a801-9c915f24e737	96d57c40-fcc5-4dc4-857c-b2d334627206	g.chr5:140866540A>G	ENST00000306593.1	+	1	1800	c.1800A>G	c.(1798-1800)tcA>tcG	p.S600S	PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA12_ENST00000252085.3_Intron	NM_018928.2|NM_032406.1	NP_061751.1|NP_115782.1														NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(13)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	42			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACTTGGATTCAGGTTACAATG	0.572													3	69					0	0	0.115264	0	0	G	140866540	A	G	140866540	2	3	188	1	0	0	0	0	0	0	0	1	11617	175	7	3		3	PCDHGC4	5	140866540	Silent	SNP	A	TCGA-FG-5964-01A-11D-1705-08	44789540	140866540	40048720	14	24416											
HIST1H3C	8352	broad.mit.edu	37	6	26045799	26045799	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-5964-01A-11D-1705-08	TCGA-FG-5964-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6888be2-4517-41e4-a801-9c915f24e737	96d57c40-fcc5-4dc4-857c-b2d334627206	g.chr6:26045799G>A	ENST00000540144.1	+	1	161	c.161G>A	c.(160-162)cGc>cAc	p.R54H		NM_003531.2	NP_003522.1	P68431	H31_HUMAN	histone cluster 1, H3c	54					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|skin(1)	8						GAAATCCGTCGCTACCAGAAG	0.622													5	35					0	0	0.184627	0	0	A	26045799	G	A	26045799	3	1	188	1	0	0	0	0	1	0	0	0	7198	1087	38	1	163	1	HIST1H3C	6	26045799	Missense_Mutation	SNP	G	TCGA-FG-5964-01A-11D-1705-08		26045799	145069268	15	24417											
MRPS18B	28973	broad.mit.edu	37	6	30587286	30587287	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-FG-5964-01A-11D-1705-08	TCGA-FG-5964-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6888be2-4517-41e4-a801-9c915f24e737	96d57c40-fcc5-4dc4-857c-b2d334627206	g.chr6:30587286_30587287delTT	ENST00000259873.4	+	2	252_253	c.95_96delTT	c.(94-96)cttfs	p.L32fs	MRPS18B_ENST00000506373.2_Frame_Shift_Del_p.L32fs|MRPS18B_ENST00000472229.1_3'UTR	NM_014046.3	NP_054765.1	Q9Y676	RT18B_HUMAN	mitochondrial ribosomal protein S18B	32					translation	mitochondrial small ribosomal subunit	protein binding|structural constituent of ribosome			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|prostate(1)|skin(2)	13						CTCCAGACTCTTTGCACCAAAG	0.401													13	81	---	---	---	---						-	30587287	TT	-	30587286	7	5	188	1	0	1	0	1	0	0	0	0	9878	1609	56	0	101	0	MRPS18B	6	30587286	Frame_Shift_Del	DEL	TT	TCGA-FG-5964-01A-11D-1705-08	4541487	30587286	140527781	16	24418											
RIPPLY2	134701	broad.mit.edu	37	6	84567021	84567021	+	Silent	SNP	G	G	A			TCGA-FG-5964-01A-11D-1705-08	TCGA-FG-5964-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6888be2-4517-41e4-a801-9c915f24e737	96d57c40-fcc5-4dc4-857c-b2d334627206	g.chr6:84567021G>A	ENST00000369689.1	+	4	451	c.300G>A	c.(298-300)ctG>ctA	p.L100L	RIPPLY2_ENST00000369687.1_Silent_p.L42L	NM_001009994.1	NP_001009994.1	Q5TAB7	RIPP2_HUMAN	ripply transcriptional repressor 2	100	Ripply homology domain.				somite rostral/caudal axis specification	nucleus				large_intestine(2)|lung(4)|urinary_tract(1)	7						AAGCTCTTCTGAAAAATTTTC	0.308													5	70					0	0	0.361761	0	0	A	84567021	G	A	84567021	2	1	188	1	0	0	0	0	0	0	0	1	13437	1277	45	2		2	RIPPLY2	6	84567021	Silent	SNP	G	TCGA-FG-5964-01A-11D-1705-08	53979735	84567021	86548046	17	24419											
FUCA2	2519	broad.mit.edu	37	6	143823182	143823182	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-5964-01A-11D-1705-08	TCGA-FG-5964-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6888be2-4517-41e4-a801-9c915f24e737	96d57c40-fcc5-4dc4-857c-b2d334627206	g.chr6:143823182T>C	ENST00000438118.2	-	3	517	c.490A>G	c.(490-492)Agt>Ggt	p.S164G	RP1-20N2.6_ENST00000589563.1_RNA|FUCA2_ENST00000367585.1_5'UTR|RP1-20N2.6_ENST00000591892.1_RNA|FUCA2_ENST00000002165.6_Silent_p.V347V|RP1-20N2.6_ENST00000610068.1_RNA			Q9BTY2	FUCO2_HUMAN	fucosidase, alpha-L- 2, plasma	0					fucose metabolic process	extracellular region	alpha-L-fucosidase activity|cation binding			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9				OV - Ovarian serous cystadenocarcinoma(155;7.45e-06)|GBM - Glioblastoma multiforme(68;0.0142)		CCTCAAAAACTACAGAAATGG	0.408													23	30					0	0	0.654019	0	0	C	143823182	T	C	143823182	3	2	188	1	0	0	0	0	1	0	0	0	6130	1509	53	3	374	3	FUCA2	6	143823182	Missense_Mutation	SNP	T	TCGA-FG-5964-01A-11D-1705-08	59256161	143823182	27291885	18	24420											
ARL4A	10124	broad.mit.edu	37	7	12728267	12728268	+	Frame_Shift_Ins	INS	-	-	T			TCGA-FG-5964-01A-11D-1705-08	TCGA-FG-5964-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6888be2-4517-41e4-a801-9c915f24e737	96d57c40-fcc5-4dc4-857c-b2d334627206	g.chr7:12728267_12728268insT	ENST00000396663.1	+	2	870_871	c.388_389insT	c.(388-390)cttfs	p.L130fs	ARL4A_ENST00000396664.2_Frame_Shift_Ins_p.L130fs|ARL4A_ENST00000404894.1_Frame_Shift_Ins_p.L130fs|ARL4A_ENST00000396662.1_Frame_Shift_Ins_p.L130fs|ARL4A_ENST00000356797.3_Frame_Shift_Ins_p.L130fs	NM_001037164.2|NM_001195396.1|NM_005738.4|NM_212460.3	NP_001032241.1|NP_001182325.1|NP_005729.1|NP_997625.1	P40617	ARL4A_HUMAN	ADP-ribosylation factor-like 4A	130					small GTPase mediated signal transduction	cytoplasm|nucleolus|plasma membrane	GTP binding|protein binding			NS(2)|lung(3)|ovary(1)	6				UCEC - Uterine corpus endometrioid carcinoma (126;0.176)		AGTCCCTGTACTTATAGTTGCT	0.381													8	82	---	---	---	---						T	12728268	-	T	12728267	7	5	188	1	0	1	1	0	0	0	0	0	935	565	20	0	390	0	ARL4A	7	12728267	Frame_Shift_Ins	INS	-	TCGA-FG-5964-01A-11D-1705-08		12728267	146410396	19	24421											
EVX1	2128	broad.mit.edu	37	7	27282671	27282671	+	Missense_Mutation	SNP	G	G	C			TCGA-FG-5964-01A-11D-1705-08	TCGA-FG-5964-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6888be2-4517-41e4-a801-9c915f24e737	96d57c40-fcc5-4dc4-857c-b2d334627206	g.chr7:27282671G>C	ENST00000496902.4	+	1	508	c.22G>C	c.(22-24)Gtt>Ctt	p.V8L	EVX1-AS_ENST00000517726.1_RNA|EVX1-AS_ENST00000519218.1_RNA|EVX1_ENST00000222761.3_Missense_Mutation_p.V8L			P49640	EVX1_HUMAN	even-skipped homeobox 1	8						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|liver(1)|lung(10)|prostate(1)|skin(1)	14						AAAGGACATGGTTGTGTTTCT	0.642													3	7					0	0	0.115264	0	0	C	27282671	G	C	27282671	3	2	188	1	0	0	0	0	1	0	0	0	5321	1261	44	5	24	5	EVX1	7	27282671	Missense_Mutation	SNP	G	TCGA-FG-5964-01A-11D-1705-08	14554404	27282671	131855992	20	24422											
NRCAM	4897	broad.mit.edu	37	7	107808830	107808830	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-5964-01A-11D-1705-08	TCGA-FG-5964-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6888be2-4517-41e4-a801-9c915f24e737	96d57c40-fcc5-4dc4-857c-b2d334627206	g.chr7:107808830T>C	ENST00000379028.3	-	29	3675	c.3205A>G	c.(3205-3207)Agg>Ggg	p.R1069G	NRCAM_ENST00000379024.4_Intron|NRCAM_ENST00000379022.4_Missense_Mutation_p.R1069G|NRCAM_ENST00000351718.4_Intron|NRCAM_ENST00000413765.2_Intron|NRCAM_ENST00000425651.2_Missense_Mutation_p.R1069G			Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	1069	Fibronectin type-III 5.				angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						TTGCTGATCCTGGGATTTACT	0.353													6	27					0	0	0.217242	0	0	C	107808830	T	C	107808830	3	2	188	1	0	0	0	0	1	0	0	0	10692	1579	55	3	759	3	NRCAM	7	107808830	Missense_Mutation	SNP	T	TCGA-FG-5964-01A-11D-1705-08	80526159	107808830	51329833	21	24423											
PODXL	5420	broad.mit.edu	37	7	131189169	131189171	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-FG-5964-01A-11D-1705-08	TCGA-FG-5964-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6888be2-4517-41e4-a801-9c915f24e737	96d57c40-fcc5-4dc4-857c-b2d334627206	g.chr7:131189169_131189171delCTT	ENST00000541194.1	-	9	1839_1841	c.1582_1584delAAG	c.(1582-1584)aagdel	p.K528del	PODXL_ENST00000378555.3_In_Frame_Del_p.K526del|PODXL_ENST00000537928.1_In_Frame_Del_p.K494del|PODXL_ENST00000322985.9_In_Frame_Del_p.K494del	NM_001018111.2	NP_001018121.1	O00592	PODXL_HUMAN	podocalyxin-like	526					cell adhesion|epithelial tube formation|negative regulation of cell-cell adhesion|positive regulation of cell migration|positive regulation of cell-cell adhesion mediated by integrin|regulation of microvillus assembly	actin cytoskeleton|apical plasma membrane|centrosome|filopodium|integral to plasma membrane|lamellipodium|membrane raft|microvillus membrane|nucleolus|ruffle				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Melanoma(18;0.162)					GGCTGACCACCTTCTTCTCCTGC	0.557													13	129	---	---	---	---						-	131189171	CTT	-	131189169	7	5	188	1	0	1	0	1	0	0	0	0	12228	680	24	0	102	0	PODXL	7	131189169	In_Frame_Del	DEL	CTT	TCGA-FG-5964-01A-11D-1705-08	23380339	131189169	27949494	22	24424											
RAB2A	5862	broad.mit.edu	37	8	61484623	61484623	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-5964-01A-11D-1705-08	TCGA-FG-5964-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6888be2-4517-41e4-a801-9c915f24e737	96d57c40-fcc5-4dc4-857c-b2d334627206	g.chr8:61484623G>A	ENST00000262646.7	+	3	488	c.137G>A	c.(136-138)cGa>cAa	p.R46Q	RAB2A_ENST00000529579.1_Missense_Mutation_p.R46Q|RAB2A_ENST00000531289.1_Missense_Mutation_p.R22Q	NM_002865.2	NP_002856.1	P61019	RAB2A_HUMAN	RAB2A, member RAS oncogene family	46					ER to Golgi vesicle-mediated transport|protein transport|small GTPase mediated signal transduction	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|melanosome	GDP binding|GTP binding|GTPase activity			endometrium(1)|large_intestine(1)|lung(4)	6			BRCA - Breast invasive adenocarcinoma(89;0.0805)			TTCGGTGCTCGAATGATAACT	0.323													9	32					0	0	0.38729	0	0	A	61484623	G	A	61484623	3	1	188	1	0	0	0	0	1	0	0	0	12969	1058	37	1	147	1	RAB2A	8	61484623	Missense_Mutation	SNP	G	TCGA-FG-5964-01A-11D-1705-08		61484623	84879399	23	24425											
ZFHX4	79776	broad.mit.edu	37	8	77776374	77776377	+	Frame_Shift_Del	DEL	CAAT	CAAT	-	rs76951673		TCGA-FG-5964-01A-11D-1705-08	TCGA-FG-5964-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6888be2-4517-41e4-a801-9c915f24e737	96d57c40-fcc5-4dc4-857c-b2d334627206	g.chr8:77776374_77776377delCAAT	ENST00000521891.2	+	11	10872_10875	c.10424_10427delCAAT	c.(10423-10428)acaatcfs	p.TI3475fs	ZFHX4_ENST00000050961.6_Frame_Shift_Del_p.TI3426fs|ZFHX4_ENST00000455469.2_Frame_Shift_Del_p.TI3430fs|ZFHX4_ENST00000518282.1_Frame_Shift_Del_p.TI3449fs	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	3426	Ser-rich.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AAAGAGAAAACAATCAAACAAGCA	0.456										HNSCC(33;0.089)			22	45	---	---	---	---						-	77776377	CAAT	-	77776374	7	5	188	1	0	1	0	1	0	0	0	0	17693	478	17	0	10462	0	ZFHX4	8	77776374	Frame_Shift_Del	DEL	CAAT	TCGA-FG-5964-01A-11D-1705-08	16291751	77776374	68587648	24	24426											
RBM12B	389677	broad.mit.edu	37	8	94745644	94745648	+	Frame_Shift_Del	DEL	TTAAC	TTAAC	-			TCGA-FG-5964-01A-11D-1705-08	TCGA-FG-5964-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6888be2-4517-41e4-a801-9c915f24e737	96d57c40-fcc5-4dc4-857c-b2d334627206	g.chr8:94745644_94745648delTTAAC	ENST00000399300.2	-	3	3204_3208	c.2991_2995delGTTAA	c.(2989-2997)aagttaactfs	p.KLT997fs	RP11-10N23.4_ENST00000517998.1_RNA|RBM12B_ENST00000517700.1_Frame_Shift_Del_p.KLT877fs|RBM12B_ENST00000520961.1_Intron	NM_203390.2	NP_976324.2	Q8IXT5	RB12B_HUMAN	RNA binding motif protein 12B	997	RRM 4.						nucleotide binding|RNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			TACAGCAAAGTTAACTTAACTTTTC	0.332													19	47	---	---	---	---						-	94745648	TTAAC	-	94745644	7	5	188	1	0	1	0	1	0	0	0	0	13166	1725	60	0	14	0	RBM12B	8	94745644	Frame_Shift_Del	DEL	TTAAC	TCGA-FG-5964-01A-11D-1705-08	16969270	94745644	51618378	25	24427											
MELK	9833	broad.mit.edu	37	9	36607659	36607661	+	In_Frame_Del	DEL	AAG	AAG	-	rs35142210	byFrequency	TCGA-FG-5964-01A-11D-1705-08	TCGA-FG-5964-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6888be2-4517-41e4-a801-9c915f24e737	96d57c40-fcc5-4dc4-857c-b2d334627206	g.chr9:36607659_36607661delAAG	ENST00000543751.1	+	7	704_706	c.559_561delAAG	c.(559-561)aagdel	p.K188del	MELK_ENST00000538311.1_In_Frame_Del_p.K26del|MELK_ENST00000536329.1_In_Frame_Del_p.K149del|MELK_ENST00000541717.1_In_Frame_Del_p.K220del|MELK_ENST00000536987.1_In_Frame_Del_p.K89del|MELK_ENST00000298048.2_In_Frame_Del_p.K220del|MELK_ENST00000487398.1_3'UTR|MELK_ENST00000536860.1_In_Frame_Del_p.K172del|MELK_ENST00000545008.1_In_Frame_Del_p.K149del	NM_001256689.1	NP_001243618.1	Q14680	MELK_HUMAN	maternal embryonic leucine zipper kinase	220	Protein kinase.					cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)	29		Acute lymphoblastic leukemia(2;1.09e-08)|all_hematologic(2;8.15e-06)	STAD - Stomach adenocarcinoma(86;0.228)			GGCTTTATACAAGAAGATTATGG	0.33													7	143	---	---	---	---						-	36607661	AAG	-	36607659	7	5	188	1	0	1	0	1	0	0	0	0	9520	131	5	0	681	0	MELK	9	36607659	In_Frame_Del	DEL	AAG	TCGA-FG-5964-01A-11D-1705-08		36607659	104605772	26	24428											
AKR1C3	8644	broad.mit.edu	37	10	5144389	5144389	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FG-5964-01A-11D-1705-08	TCGA-FG-5964-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6888be2-4517-41e4-a801-9c915f24e737	96d57c40-fcc5-4dc4-857c-b2d334627206	g.chr10:5144389C>T	ENST00000380554.3	+	6	1319	c.667C>T	c.(667-669)Cga>Tga	p.R223*	AKR1C3_ENST00000439082.2_Nonsense_Mutation_p.R104*|AKR1C3_ENST00000605149.1_Nonsense_Mutation_p.R200*	NM_001253908.1|NM_003739.5	NP_001240837.1|NP_003730.4	P42330	AK1C3_HUMAN	aldo-keto reductase family 1, member C3	223					prostaglandin metabolic process	cytoplasm	aldo-keto reductase (NADP) activity|androsterone dehydrogenase (A-specific) activity|indanol dehydrogenase activity|prostaglandin-F synthase activity|testosterone 17-beta-dehydrogenase (NAD+) activity|testosterone 17-beta-dehydrogenase (NADP+) activity|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|skin(1)	14					Dimethyl sulfoxide(DB01093)|NADH(DB00157)	GGGATCTCAACGAGACAAACG	0.383													18	58					0	0	0.520397	0	0	T	5144389	C	T	5144389	4	4	188	1	0	0	0	0	0	1	0	0	468	528	19	1	689	1	AKR1C3	10	5144389	Nonsense_Mutation	SNP	C	TCGA-FG-5964-01A-11D-1705-08		5144389	130390358	27	24429											
KIAA1217	56243	broad.mit.edu	37	10	24825812	24825812	+	Missense_Mutation	SNP	A	A	T			TCGA-FG-5964-01A-11D-1705-08	TCGA-FG-5964-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6888be2-4517-41e4-a801-9c915f24e737	96d57c40-fcc5-4dc4-857c-b2d334627206	g.chr10:24825812A>T	ENST00000376451.2	+	12	2833	c.2573A>T	c.(2572-2574)aAg>aTg	p.K858M	KIAA1217_ENST00000307544.6_Missense_Mutation_p.K858M|KIAA1217_ENST00000376462.1_Intron|KIAA1217_ENST00000376454.3_Missense_Mutation_p.K1175M|KIAA1217_ENST00000396445.1_Missense_Mutation_p.K858M|KIAA1217_ENST00000458595.1_Missense_Mutation_p.K1140M|KIAA1217_ENST00000396446.1_Intron|KIAA1217_ENST00000376452.3_Missense_Mutation_p.K1139M			Q5T5P2	SKT_HUMAN	KIAA1217	1175					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						GTGCCACCCAAGGAGAAGAAG	0.507													6	60					0	0	0.248553	0	0	T	24825812	A	T	24825812	3	4	188	1	0	0	0	0	1	0	0	0	8258	72	3	5	3590	5	KIAA1217	10	24825812	Missense_Mutation	SNP	A	TCGA-FG-5964-01A-11D-1705-08	19681423	24825812	110708935	28	24430											
KIAA1217	56243	broad.mit.edu	37	10	24833960	24833960	+	Silent	SNP	C	C	T			TCGA-FG-5964-01A-11D-1705-08	TCGA-FG-5964-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6888be2-4517-41e4-a801-9c915f24e737	96d57c40-fcc5-4dc4-857c-b2d334627206	g.chr10:24833960C>T	ENST00000376451.2	+	15	4571	c.4311C>T	c.(4309-4311)gcC>gcT	p.A1437A	KIAA1217_ENST00000307544.6_Silent_p.A904A|KIAA1217_ENST00000376462.1_Silent_p.A1075A|KIAA1217_ENST00000376454.3_Silent_p.A1754A|KIAA1217_ENST00000396445.1_Silent_p.A878A|KIAA1217_ENST00000458595.1_Silent_p.A1160A|KIAA1217_ENST00000396446.1_Silent_p.A838A|KIAA1217_ENST00000376452.3_Silent_p.A1185A			Q5T5P2	SKT_HUMAN	KIAA1217	1754					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						CCATGAGTGCCAAGAACAGAC	0.572													8	116					0	0	0.27861	0	0	T	24833960	C	T	24833960	2	4	188	1	0	0	0	0	0	0	0	1	8258	581	21	2		2	KIAA1217	10	24833960	Silent	SNP	C	TCGA-FG-5964-01A-11D-1705-08	8148	24833960	110700787	29	24431											
CALHM2	51063	broad.mit.edu	37	10	105209092	105209092	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-5964-01A-11D-1705-08	TCGA-FG-5964-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6888be2-4517-41e4-a801-9c915f24e737	96d57c40-fcc5-4dc4-857c-b2d334627206	g.chr10:105209092T>C	ENST00000393235.1	-	3	1804	c.607A>G	c.(607-609)Agg>Ggg	p.R203G	CALHM2_ENST00000369788.3_Intron|CALHM2_ENST00000260743.5_Intron			Q9HA72	CAHM2_HUMAN	calcium homeostasis modulator 2	0						integral to membrane				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)|skin(1)	11						TCCCCGGACCTCTCACCAGCC	0.592													3	74					0	0	0.115264	0	0	C	105209092	T	C	105209092	3	2	188	1	0	0	0	0	1	0	0	0	2601	1566	54	3		3	CALHM2	10	105209092	Missense_Mutation	SNP	T	TCGA-FG-5964-01A-11D-1705-08	80375132	105209092	30325655	30	24432											
RBM14	10432	broad.mit.edu	37	11	66392068	66392068	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-5964-01A-11D-1705-08	TCGA-FG-5964-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6888be2-4517-41e4-a801-9c915f24e737	96d57c40-fcc5-4dc4-857c-b2d334627206	g.chr11:66392068C>T	ENST00000310137.4	+	2	860	c.721C>T	c.(721-723)Ccg>Tcg	p.P241S	RBM14_ENST00000393979.3_Intron|RBM14-RBM4_ENST00000500635.2_Intron|RBM4_ENST00000514361.3_Intron|RBM14_ENST00000409738.4_Intron|RBM4_ENST00000503028.2_Intron|RBM14-RBM4_ENST00000511114.1_Intron|RBM14-RBM4_ENST00000412278.2_Intron	NM_006328.3	NP_006319.1	Q96PK6	RBM14_HUMAN	RNA binding motif protein 14	241	Ala-rich.				DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|histone deacetylation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus	mediator complex|ribonucleoprotein complex|transcription factor complex	ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|protein binding, bridging|RNA binding|RNA polymerase II transcription cofactor activity		RBM14/PACS1(2)	breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						CCGGGCCCAGCCGTCCGTGTC	0.652													3	51					0	0	0.115264	0	0	T	66392068	C	T	66392068	3	4	188	1	0	0	0	0	1	0	0	0	13167	739	26	2	727	2	RBM14	11	66392068	Missense_Mutation	SNP	C	TCGA-FG-5964-01A-11D-1705-08		66392068	68614448	31	24433											
TENC1	23371	broad.mit.edu	37	12	53457348	53457348	+	Splice_Site	SNP	T	T	C			TCGA-FG-5964-01A-11D-1705-08	TCGA-FG-5964-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6888be2-4517-41e4-a801-9c915f24e737	96d57c40-fcc5-4dc4-857c-b2d334627206	g.chr12:53457348T>C	ENST00000314250.6	+	28	4353	c.4063T>C	c.(4063-4065)Tgg>Cgg	p.W1355R	TENC1_ENST00000314276.3_Splice_Site_p.W1365R|TENC1_ENST00000379902.3_Splice_Site_p.W1231R|TENC1_ENST00000552570.1_Splice_Site_p.W1353R|TENC1_ENST00000546602.1_Splice_Site_p.W1258R|TENC1_ENST00000451358.1_Splice_Site_p.W1345R|TENC1_ENST00000549700.1_Splice_Site_p.W1290R	NM_170754.2	NP_736610.2	Q63HR2	TENC1_HUMAN	tensin like C1 domain containing phosphatase (tensin 2)	1355					intracellular signal transduction|negative regulation of cell proliferation	focal adhesion	metal ion binding|phosphoprotein phosphatase activity|protein binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(19)|ovary(1)|pancreas(1)|stomach(3)	34						CTTCTGCAGATGGACCAACCC	0.642													3	88					0	0	0.150653	0	0	C	53457348	T	C	53457348	5	2	188	1	0	0	0	0	0	0	1	0	15817	1478	51	3	4282	3	TENC1	12	53457348	Splice_Site	SNP	T	TCGA-FG-5964-01A-11D-1705-08		53457348	80394547	32	24434											
PAN2	9924	broad.mit.edu	37	12	56721813	56721813	+	Frame_Shift_Del	DEL	T	T	-			TCGA-FG-5964-01A-11D-1705-08	TCGA-FG-5964-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6888be2-4517-41e4-a801-9c915f24e737	96d57c40-fcc5-4dc4-857c-b2d334627206	g.chr12:56721813delT	ENST00000425394.2	-	5	993	c.617delA	c.(616-618)aatfs	p.N206fs	PAN2_ENST00000440411.3_Frame_Shift_Del_p.N206fs|PAN2_ENST00000548043.1_Frame_Shift_Del_p.N206fs|PAN2_ENST00000257931.5_Frame_Shift_Del_p.N206fs	NM_001127460.2	NP_001120932	Q504Q3	PAN2_HUMAN	PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)	206					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process	cytosol|nucleus	nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						GAAGAAGCGATTTGTCTGTCT	0.512													8	39	---	---	---	---						-	56721813	T	-	56721813	7	5	188	1	0	1	0	1	0	0	0	0	11461	1493	52	0	3079	0	PAN2	12	56721813	Frame_Shift_Del	DEL	T	TCGA-FG-5964-01A-11D-1705-08	3264465	56721813	77130082	33	24435											
LRP1	4035	broad.mit.edu	37	12	57588464	57588464	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-5964-01A-11D-1705-08	TCGA-FG-5964-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6888be2-4517-41e4-a801-9c915f24e737	96d57c40-fcc5-4dc4-857c-b2d334627206	g.chr12:57588464G>A	ENST00000243077.3	+	50	8639	c.8173G>A	c.(8173-8175)Gag>Aag	p.E2725K		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	2725	LDL-receptor class A 15.				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	TGAACATGGCGAGGACGAGAC	0.597													13	42					0	0	0.435327	0	0	A	57588464	G	A	57588464	3	1	188	1	0	0	0	0	1	0	0	0	8996	1059	37	1	8371	1	LRP1	12	57588464	Missense_Mutation	SNP	G	TCGA-FG-5964-01A-11D-1705-08	866651	57588464	76263431	34	24436											
TMEM19	55266	broad.mit.edu	37	12	72094692	72094694	+	In_Frame_Del	DEL	AAC	AAC	-			TCGA-FG-5964-01A-11D-1705-08	TCGA-FG-5964-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6888be2-4517-41e4-a801-9c915f24e737	96d57c40-fcc5-4dc4-857c-b2d334627206	g.chr12:72094692_72094694delAAC	ENST00000266673.5	+	6	1522_1524	c.928_930delAAC	c.(928-930)aacdel	p.N311del		NM_018279.3	NP_060749.2	Q96HH6	TMM19_HUMAN	transmembrane protein 19	311						integral to membrane				large_intestine(1)|lung(8)	9		Breast(359;0.0889)		GBM - Glioblastoma multiforme(134;0.044)		CATTCTTGATAACAACGCAGTGA	0.463													11	329	---	---	---	---						-	72094694	AAC	-	72094692	7	5	188	1	0	1	0	1	0	0	0	0	16173	362	13	0	950	0	TMEM19	12	72094692	In_Frame_Del	DEL	AAC	TCGA-FG-5964-01A-11D-1705-08	14506228	72094692	61757203	35	24437											
C12orf65	91574	broad.mit.edu	37	12	123738357	123738359	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-FG-5964-01A-11D-1705-08	TCGA-FG-5964-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6888be2-4517-41e4-a801-9c915f24e737	96d57c40-fcc5-4dc4-857c-b2d334627206	g.chr12:123738357_123738359delAAG	ENST00000253233.1	+	2	780_782	c.136_138delAAG	c.(136-138)aagdel	p.K47del	C12orf65_ENST00000429587.2_In_Frame_Del_p.K47del|RP11-282O18.3_ENST00000543217.2_RNA|RP11-282O18.3_ENST00000541002.3_RNA|C12orf65_ENST00000366329.2_In_Frame_Del_p.K47del	NM_152269.4	NP_689482.1	Q9H3J6	CL065_HUMAN	chromosome 12 open reading frame 65	47						mitochondrion	translation release factor activity			endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	4	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000595)|Epithelial(86;0.00199)		GATGGCAGGCAAGAAGGACTACC	0.557													10	51	---	---	---	---						-	123738359	AAG	-	123738357	7	5	188	1	0	1	0	1	0	0	0	0	1714	131	5	0	138	0	C12orf65	12	123738357	In_Frame_Del	DEL	AAG	TCGA-FG-5964-01A-11D-1705-08	51643665	123738357	10113538	36	24438											
UBL3	5412	broad.mit.edu	37	13	30341404	30341406	+	In_Frame_Del	DEL	ACA	ACA	-			TCGA-FG-5964-01A-11D-1705-08	TCGA-FG-5964-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6888be2-4517-41e4-a801-9c915f24e737	96d57c40-fcc5-4dc4-857c-b2d334627206	g.chr13:30341404_30341406delACA	ENST00000380680.4	-	5	1485_1487	c.340_342delTGT	c.(340-342)tgtdel	p.C114del		NM_007106.3	NP_009037.1	O95164	UBL3_HUMAN	ubiquitin-like 3	114						intracellular|plasma membrane				large_intestine(3)|lung(1)	4		Lung SC(185;0.0281)		all cancers(112;0.0598)|GBM - Glioblastoma multiforme(144;0.142)|OV - Ovarian serous cystadenocarcinoma(117;0.147)		ACAGGATTACACAACAATTACTC	0.433													12	38	---	---	---	---						-	30341406	ACA	-	30341404	7	5	188	1	0	1	0	1	0	0	0	0	16947	157	6	0	15	0	UBL3	13	30341404	In_Frame_Del	DEL	ACA	TCGA-FG-5964-01A-11D-1705-08		30341404	84828474	37	24439											
POTEG	404785	broad.mit.edu	37	14	19553812	19553812	+	Silent	SNP	G	G	A			TCGA-FG-5964-01A-11D-1705-08	TCGA-FG-5964-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6888be2-4517-41e4-a801-9c915f24e737	96d57c40-fcc5-4dc4-857c-b2d334627206	g.chr14:19553812G>A	ENST00000409832.3	+	1	448	c.396G>A	c.(394-396)agG>agA	p.R132R		NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	132										cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						TGGAGCCGAGGTACCACGTCC	0.592													18	389					0	0	0.681144	0	0	A	19553812	G	A	19553812	2	1	188	1	0	0	0	0	0	0	0	1	12313	1252	44	2		2	POTEG	14	19553812	Silent	SNP	G	TCGA-FG-5964-01A-11D-1705-08		19553812	87795728	38	24440											
TINF2	26277	broad.mit.edu	37	14	24709491	24709493	+	In_Frame_Del	DEL	TAA	TAA	-			TCGA-FG-5964-01A-11D-1705-08	TCGA-FG-5964-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6888be2-4517-41e4-a801-9c915f24e737	96d57c40-fcc5-4dc4-857c-b2d334627206	g.chr14:24709491_24709493delTAA	ENST00000267415.7	-	7	1446_1448	c.1105_1107delTTA	c.(1105-1107)ttadel	p.L369del	TINF2_ENST00000399423.4_3'UTR|TINF2_ENST00000540705.1_In_Frame_Del_p.L334del|TINF2_ENST00000558566.1_3'UTR|TINF2_ENST00000538777.1_3'UTR	NM_001099274.1	NP_001092744.1	Q9BSI4	TINF2_HUMAN	TERF1 (TRF1)-interacting nuclear factor 2	369					negative regulation of epithelial cell proliferation|negative regulation of protein ADP-ribosylation|negative regulation of telomere maintenance via telomerase|positive regulation of telomere maintenance|protein localization to chromosome, telomeric region|telomere assembly|telomere maintenance via telomere lengthening	nuclear telomere cap complex|nucleoplasm|perinucleolar chromocenter	protein binding|telomeric DNA binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|prostate(1)|urinary_tract(1)	7				GBM - Glioblastoma multiforme(265;0.0185)		CCCTAGGAGGTAATAATGATAGT	0.498									Congenital Dyskeratosis;Ataxia Pancytopenia syndrome				19	81	---	---	---	---						-	24709493	TAA	-	24709491	7	5	188	1	0	1	0	1	0	0	0	0	15983	1635	57	0	260	0	TINF2	14	24709491	In_Frame_Del	DEL	TAA	TCGA-FG-5964-01A-11D-1705-08	5155679	24709491	82640049	39	24441											
KTN1	3895	broad.mit.edu	37	14	56079020	56079020	+	Missense_Mutation	SNP	A	A	G			TCGA-FG-5964-01A-11D-1705-08	TCGA-FG-5964-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6888be2-4517-41e4-a801-9c915f24e737	96d57c40-fcc5-4dc4-857c-b2d334627206	g.chr14:56079020A>G	ENST00000416613.1	+	1	326	c.254A>G	c.(253-255)aAa>aGa	p.K85R	KTN1_ENST00000395309.3_Missense_Mutation_p.K85R|KTN1_ENST00000395314.3_Missense_Mutation_p.K85R|KTN1_ENST00000395311.1_Missense_Mutation_p.K85R|KTN1_ENST00000438792.2_Missense_Mutation_p.K85R|KTN1_ENST00000395308.1_Missense_Mutation_p.K85R|KTN1_ENST00000413890.2_Missense_Mutation_p.K85R			Q86UP2	KTN1_HUMAN	kinectin 1 (kinesin receptor)	85					microtubule-based movement	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction				breast(4)|central_nervous_system(1)|large_intestine(8)|lung(1)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	19						CGAGACTTTAAATTATCAGAT	0.358			T	RET	papillary thryoid								3	90					0	0	0.150653	0	0	G	56079020	A	G	56079020	3	3	188	1	0	0	0	0	1	0	0	0	8624	14	1	3	256	3	KTN1	14	56079020	Missense_Mutation	SNP	A	TCGA-FG-5964-01A-11D-1705-08	31369529	56079020	51270520	40	24442											
LTBP2	4053	broad.mit.edu	37	14	75017767	75017767	+	Splice_Site	SNP	C	C	A			TCGA-FG-5964-01A-11D-1705-08	TCGA-FG-5964-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6888be2-4517-41e4-a801-9c915f24e737	96d57c40-fcc5-4dc4-857c-b2d334627206	g.chr14:75017767C>A	ENST00000261978.4	-	7	2072	c.1686G>T	c.(1684-1686)caG>caT	p.Q562H	LTBP2_ENST00000556690.1_Splice_Site_p.Q562H|LTBP2_ENST00000557425.1_5'UTR	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	562	TB 1.				protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		GTGTTCTCACCTGTCCGTTCA	0.612													3	44					0.115264	0.119784	0.115264	1	0	A	75017767	C	A	75017767	5	1	188	1	0	0	0	0	0	0	1	0	9119	695	24	4	3899	4	LTBP2	14	75017767	Splice_Site	SNP	C	TCGA-FG-5964-01A-11D-1705-08	18938747	75017767	32331773	41	24443											
KLC1	3831	broad.mit.edu	37	14	104143843	104143843	+	Missense_Mutation	SNP	A	A	G			TCGA-FG-5964-01A-11D-1705-08	TCGA-FG-5964-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6888be2-4517-41e4-a801-9c915f24e737	96d57c40-fcc5-4dc4-857c-b2d334627206	g.chr14:104143843A>G	ENST00000389744.4	+	12	1740	c.1471A>G	c.(1471-1473)Atg>Gtg	p.M491V	KLC1_ENST00000348520.6_Missense_Mutation_p.M491V|KLC1_ENST00000246489.7_Missense_Mutation_p.M491V|KLC1_ENST00000380038.3_Missense_Mutation_p.M491V|KLC1_ENST00000553286.1_Missense_Mutation_p.M491V|KLC1_ENST00000557450.1_Missense_Mutation_p.M491V|KLC1_ENST00000334553.6_Missense_Mutation_p.M491V|RP11-73M18.2_ENST00000472726.2_Missense_Mutation_p.M663V|KLC1_ENST00000347839.6_Missense_Mutation_p.M491V|KLC1_ENST00000555836.1_Missense_Mutation_p.M491V|KLC1_ENST00000452929.2_Missense_Mutation_p.M491V|KLC1_ENST00000554280.1_Missense_Mutation_p.M491V|KLC1_ENST00000445352.4_Missense_Mutation_p.M489V|KLC1_ENST00000557575.1_Missense_Mutation_p.M491V			Q07866	KLC1_HUMAN	kinesin light chain 1	491					blood coagulation|microtubule-based movement|stress granule disassembly	cytosol|kinesin complex|microtubule	microtubule motor activity|protein binding		KLC1/ALK(2)	NS(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1)	12		Melanoma(154;0.155)|all_epithelial(191;0.19)				AGAAGCTGCTATGAGGTCTCG	0.398													21	45					0	0	0.608945	0	0	G	104143843	A	G	104143843	3	3	188	1	0	0	0	0	1	0	0	0	8376	449	16	3	1513	3	KLC1	14	104143843	Missense_Mutation	SNP	A	TCGA-FG-5964-01A-11D-1705-08	29126076	104143843	3205697	42	24444											
MYO5A	4644	broad.mit.edu	37	15	52720613	52720613	+	Missense_Mutation	SNP	G	G	C			TCGA-FG-5964-01A-11D-1705-08	TCGA-FG-5964-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6888be2-4517-41e4-a801-9c915f24e737	96d57c40-fcc5-4dc4-857c-b2d334627206	g.chr15:52720613G>C	ENST00000399231.3	-	3	535	c.292C>G	c.(292-294)Ctt>Gtt	p.L98V	MYO5A_ENST00000356338.6_Missense_Mutation_p.L98V|MYO5A_ENST00000553916.1_Missense_Mutation_p.L98V|MYO5A_ENST00000358212.6_Missense_Mutation_p.L98V|MYO5A_ENST00000399233.2_Missense_Mutation_p.L98V	NM_000259.3	NP_000250	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)	98	Myosin head-like.				actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		GTATAAATAAGTTTGGAATCA	0.408													38	79					0	0	0.834066	0	0	C	52720613	G	C	52720613	3	2	188	1	0	0	0	0	1	0	0	0	10126	1029	36	4	5431	4	MYO5A	15	52720613	Missense_Mutation	SNP	G	TCGA-FG-5964-01A-11D-1705-08		52720613	49810779	43	24445											
CLCN7	1186	broad.mit.edu	37	16	1510460	1510460	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-5964-01A-11D-1705-08	TCGA-FG-5964-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6888be2-4517-41e4-a801-9c915f24e737	96d57c40-fcc5-4dc4-857c-b2d334627206	g.chr16:1510460C>T	ENST00000382745.4	-	6	1158	c.553G>A	c.(553-555)Gcc>Acc	p.A185T	CLCN7_ENST00000448525.1_Missense_Mutation_p.A161T|CLCN7_ENST00000262318.8_Missense_Mutation_p.A161T	NM_001287.5	NP_001278.1	P51798	CLCN7_HUMAN	chloride channel, voltage-sensitive 7	185						integral to membrane|lysosomal membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity			breast(2)|central_nervous_system(3)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	24		Hepatocellular(780;0.0893)				AGCACGAAGGCGGCGTTCAGC	0.597													29	54					0	0	0.750413	0	0	T	1510460	C	T	1510460	3	4	188	1	0	0	0	0	1	0	0	0	3491	768	27	1	1944	1	CLCN7	16	1510460	Missense_Mutation	SNP	C	TCGA-FG-5964-01A-11D-1705-08		1510460	88844293	44	24446											
CDH15	1013	broad.mit.edu	37	16	89261356	89261356	+	Silent	SNP	G	G	A			TCGA-FG-5964-01A-11D-1705-08	TCGA-FG-5964-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6888be2-4517-41e4-a801-9c915f24e737	96d57c40-fcc5-4dc4-857c-b2d334627206	g.chr16:89261356G>A	ENST00000289746.2	+	14	2303	c.2238G>A	c.(2236-2238)gcG>gcA	p.A746A		NM_004933.2	NP_004924.1	P55291	CAD15_HUMAN	cadherin 15, type 1, M-cadherin (myotubule)	746					adherens junction organization|cell junction assembly|homophilic cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	calcium ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(80;0.0261)		GCTCGGTGGCGGGGACGCTGA	0.632													5	15					0	0	0.307466	0	0	A	89261356	G	A	89261356	2	1	188	1	0	0	0	0	0	0	0	1	3122	1103	39	1		1	CDH15	16	89261356	Silent	SNP	G	TCGA-FG-5964-01A-11D-1705-08	87750896	89261356	1093397	45	24447											
OR1A1	8383	broad.mit.edu	37	17	3119138	3119138	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-5964-01A-11D-1705-08	TCGA-FG-5964-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6888be2-4517-41e4-a801-9c915f24e737	96d57c40-fcc5-4dc4-857c-b2d334627206	g.chr17:3119138C>T	ENST00000304094.1	+	1	224	c.224C>T	c.(223-225)tCg>tTg	p.S75L		NM_014565.2	NP_055380.2	Q9P1Q5	OR1A1_HUMAN	olfactory receptor, family 1, subfamily A, member 1	75					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	23						TTCTTCTCATCGGTAACCATC	0.483													50	129					0	0	0.870114	0	0	T	3119138	C	T	3119138	3	4	188	1	0	0	0	0	1	0	0	0	10997	893	31	1	226	1	OR1A1	17	3119138	Missense_Mutation	SNP	C	TCGA-FG-5964-01A-11D-1705-08		3119138	78076072	46	24448											
CCR10	2826	broad.mit.edu	37	17	40832563	40832563	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-5964-01A-11D-1705-08	TCGA-FG-5964-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6888be2-4517-41e4-a801-9c915f24e737	96d57c40-fcc5-4dc4-857c-b2d334627206	g.chr17:40832563T>C	ENST00000332438.4	-	2	116	c.97A>G	c.(97-99)Aag>Gag	p.K33E	CCR10_ENST00000591765.1_5'UTR|CTD-3193K9.4_ENST00000593139.1_RNA	NM_016602.2	NP_057686.2	P46092	CCR10_HUMAN	chemokine (C-C motif) receptor 10	33						integral to plasma membrane				lung(1)|ovary(1)|skin(1)	3		Breast(137;0.000153)		BRCA - Breast invasive adenocarcinoma(366;0.14)		ACATCGGCCTTGTAGCAAAGC	0.637													8	28					0	0	0.27861	0	0	C	40832563	T	C	40832563	3	2	188	1	0	0	0	0	1	0	0	0	2962	1821	63	3	995	3	CCR10	17	40832563	Missense_Mutation	SNP	T	TCGA-FG-5964-01A-11D-1705-08	37713425	40832563	40362647	47	24449											
BCAS3	54828	broad.mit.edu	37	17	58967054	58967054	+	Splice_Site	SNP	A	A	G			TCGA-FG-5964-01A-11D-1705-08	TCGA-FG-5964-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6888be2-4517-41e4-a801-9c915f24e737	96d57c40-fcc5-4dc4-857c-b2d334627206	g.chr17:58967054A>G	ENST00000589222.1	+	10	729		c.e10-1		BCAS3_ENST00000408905.3_Splice_Site|BCAS3_ENST00000407086.3_Splice_Site|BCAS3_ENST00000585744.1_Splice_Site|BCAS3_ENST00000588874.1_Splice_Site|BCAS3_ENST00000588462.1_Splice_Site|BCAS3_ENST00000390652.5_Splice_Site			Q9H6U6	BCAS3_HUMAN	breast carcinoma amplified sequence 3							nucleus				NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44			BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)			GAAATTTTTCAGGCTGCTATC	0.398													3	71					0	0	0.115264	0	0	G	58967054	A	G	58967054	5	3	188	1	0	0	0	0	0	0	1	0	1350	202	7	3	694	3	BCAS3	17	58967054	Splice_Site	SNP	A	TCGA-FG-5964-01A-11D-1705-08	18134491	58967054	22228156	48	24450											
PAF1	54623	broad.mit.edu	37	19	39879756	39879758	+	In_Frame_Del	DEL	TCT	TCT	-			TCGA-FG-5964-01A-11D-1705-08	TCGA-FG-5964-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6888be2-4517-41e4-a801-9c915f24e737	96d57c40-fcc5-4dc4-857c-b2d334627206	g.chr19:39879756_39879758delTCT	ENST00000221265.3	-	7	872_874	c.542_544delAGA	c.(541-546)aagact>act	p.K181del	PAF1_ENST00000595564.1_In_Frame_Del_p.K171del|PAF1_ENST00000221266.7_In_Frame_Del_p.K171del	NM_019088.3	NP_061961.2	Q8N7H5	PAF1_HUMAN	Paf1, RNA polymerase II associated factor, homolog (S. cerevisiae)	181					histone H2B ubiquitination|histone monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|urinary_tract(2)	17	all_cancers(60;9.14e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.88e-06)|Ovarian(47;0.0512)		Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			TCCTCAAAAGTCTTCTCAATGGC	0.483													30	105	---	---	---	---						-	39879758	TCT	-	39879756	7	5	188	1	0	1	0	1	0	0	0	0	11430	1667	58	0	1083	0	PAF1	19	39879756	In_Frame_Del	DEL	TCT	TCGA-FG-5964-01A-11D-1705-08		39879756	19249227	49	24451											
CIC	23152	broad.mit.edu	37	19	42797980	42797981	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-FG-5964-01A-11D-1705-08	TCGA-FG-5964-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6888be2-4517-41e4-a801-9c915f24e737	96d57c40-fcc5-4dc4-857c-b2d334627206	g.chr19:42797980_42797981delTG	ENST00000572681.2	+	17	6821_6822	c.6753_6754delTG	c.(6751-6756)tctgtgfs	p.V2252fs	CIC_ENST00000160740.3_Frame_Shift_Del_p.V1343fs|CIC_ENST00000575354.2_Frame_Shift_Del_p.V1345fs			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	1345					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CCTTTGACTCTGTGGACAAGTG	0.693			"Mis, F, S"		oligodendroglioma								32	36	---	---	---	---						-	42797981	TG	-	42797980	7	5	188	1	0	1	0	1	0	0	0	0	3446	1567	55	0	4094	0	CIC	19	42797980	Frame_Shift_Del	DEL	TG	TCGA-FG-5964-01A-11D-1705-08	2918224	42797980	16331003	50	24452											
NCAPH2	29781	broad.mit.edu	37	22	50956005	50956005	+	Splice_Site	SNP	G	G	A			TCGA-FG-5964-01A-11D-1705-08	TCGA-FG-5964-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6888be2-4517-41e4-a801-9c915f24e737	96d57c40-fcc5-4dc4-857c-b2d334627206	g.chr22:50956005G>A	ENST00000395701.3	+	4	360		c.e4-1		NCAPH2_ENST00000299821.11_Splice_Site|NCAPH2_ENST00000420993.2_Splice_Site|NCAPH2_ENST00000395698.3_Splice_Site			Q6IBW4	CNDH2_HUMAN	non-SMC condensin II complex, subunit H2						chromosome condensation	chromosome|nucleus				breast(1)|cervix(1)|endometrium(2)|kidney(3)|lung(10)|ovary(1)|prostate(2)|skin(3)|stomach(1)	24		all_cancers(38;4.58e-14)|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)		BRCA - Breast invasive adenocarcinoma(115;0.212)		TTCTCTCTCAGGCGGGCCAAG	0.632													30	63					0	0	0.717897	0	0	A	50956005	G	A	50956005	5	1	188	1	0	0	0	0	0	0	1	0	10257	1014	35	2	280	2	NCAPH2	22	50956005	Splice_Site	SNP	G	TCGA-FG-5964-01A-11D-1705-08		50956005	348561	51	24453											
SPANXD	64648	broad.mit.edu	37	X	140785767	140785767	+	Missense_Mutation	SNP	A	A	G			TCGA-FG-5964-01A-11D-1705-08	TCGA-FG-5964-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6888be2-4517-41e4-a801-9c915f24e737	96d57c40-fcc5-4dc4-857c-b2d334627206	g.chrX:140785767A>G	ENST00000370515.3	-	2	482	c.149T>C	c.(148-150)aTa>aCa	p.I50T		NM_032417.2|NM_145665.1	NP_115793.1|NP_663698.1			SPANX family, member D											breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	9	Acute lymphoblastic leukemia(192;7.65e-05)					AACCACTAGTATGGTCGAGGA	0.498													78	46					0	0	0.870114	0	0	G	140785767	A	G	140785767	3	3	188	1	0	0	0	0	1	0	0	0	15044	449	16	3	148	3	SPANXD	23	140785767	Missense_Mutation	SNP	A	TCGA-FG-5964-01A-11D-1705-08		140785767	14484793	52	24454											
CAMTA1	23261	broad.mit.edu	37	1	7723708	7723708	+	Missense_Mutation	SNP	C	C	G			TCGA-FG-5965-01B-11D-1893-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0730868d-1fe9-4964-a0cc-a12a74d161e6	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr1:7723708C>G	ENST00000303635.7	+	9	1308	c.1101C>G	c.(1099-1101)aaC>aaG	p.N367K	CAMTA1_ENST00000439411.2_Missense_Mutation_p.N367K	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	367					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		GCGGGCTCAACAGCGACCCGG	0.647			T	WWTR1	epitheliod hemangioendothelioma								34	76					0	0	0.003755	0	0	G	7723708	C	G	7723708	3	3	189	1	0	0	0	0	1	0	0	0	2631	477	17	5	1135	5	CAMTA1	1	7723708	Missense_Mutation	SNP	C	TCGA-FG-5965-01B-11D-1893-08		7723708	241526913	1	24455											
EYA3	2140	broad.mit.edu	37	1	28339787	28339787	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-5965-01B-11D-1893-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0730868d-1fe9-4964-a0cc-a12a74d161e6	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr1:28339787T>C	ENST00000373871.3	-	9	844	c.604A>G	c.(604-606)Att>Gtt	p.I202V	EYA3_ENST00000373864.1_Missense_Mutation_p.I46V|EYA3_ENST00000471498.1_5'UTR|EYA3_ENST00000373863.3_Missense_Mutation_p.I156V|EYA3_ENST00000545175.1_Missense_Mutation_p.I149V|EYA3_ENST00000540618.1_Missense_Mutation_p.I156V|EYA3_ENST00000436342.2_Missense_Mutation_p.I76V	NM_001282561.1|NM_001282562.1	NP_001269490.1|NP_001269491.1	Q99504	EYA3_HUMAN	eyes absent homolog 3 (Drosophila)	202					anatomical structure morphogenesis|double-strand break repair|histone dephosphorylation|multicellular organismal development|positive regulation of DNA repair|regulation of transcription, DNA-dependent|response to ionizing radiation|transcription, DNA-dependent|visual perception	cytoplasm	metal ion binding|protein binding|protein tyrosine phosphatase activity			breast(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	15		Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000432)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0484)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;2.8e-06)|STAD - Stomach adenocarcinoma(196;0.00364)|KIRC - Kidney renal clear cell carcinoma(1967;0.00378)|BRCA - Breast invasive adenocarcinoma(304;0.00718)|READ - Rectum adenocarcinoma(331;0.0642)		TGACCAAGAATAGTATAGGTG	0.453													17	113					0	0	0.007413	0	0	C	28339787	T	C	28339787	3	2	189	1	0	0	0	0	1	0	0	0	5358	1406	49	3	1157	3	EYA3	1	28339787	Missense_Mutation	SNP	T	TCGA-FG-5965-01B-11D-1893-08	20616079	28339787	220910834	2	24456											
SHC1	6464	broad.mit.edu	37	1	154942867	154942867	+	Missense_Mutation	SNP	G	G	C			TCGA-FG-5965-01B-11D-1893-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0730868d-1fe9-4964-a0cc-a12a74d161e6	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr1:154942867G>C	ENST00000448116.2	-	1	356	c.136C>G	c.(136-138)Ctg>Gtg	p.L46V	SHC1_ENST00000368453.4_Intron|SHC1_ENST00000368445.5_Missense_Mutation_p.L46V|SHC1_ENST00000368450.1_Intron|SHC1_ENST00000368449.4_Intron|SHC1_ENST00000606391.1_Intron	NM_001130040.1	NP_001123512.1	P29353	SHC1_HUMAN	SHC (Src homology 2 domain containing) transforming protein 1	46					activation of MAPK activity|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|positive regulation of DNA replication|Ras protein signal transduction|regulation of epidermal growth factor receptor activity|regulation of growth	cytosol|mitochondrial matrix|Shc-EGFR complex	epidermal growth factor receptor binding|insulin receptor binding|insulin-like growth factor receptor binding|phospholipid binding|protein binding|transmembrane receptor protein tyrosine kinase adaptor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	20	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			AGAGGAGGCAGGATGGGCCCC	0.662													19	33					0	0	0.008871	0	0	C	154942867	G	C	154942867	3	2	189	1	0	0	0	0	1	0	0	0	14325	991	35	4	1666	4	SHC1	1	154942867	Missense_Mutation	SNP	G	TCGA-FG-5965-01B-11D-1893-08	126603080	154942867	94307754	3	24457											
APCS	325	broad.mit.edu	37	1	159557756	159557756	+	Silent	SNP	G	G	A			TCGA-FG-5965-01B-11D-1893-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0730868d-1fe9-4964-a0cc-a12a74d161e6	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr1:159557756G>A	ENST00000255040.2	+	1	142	c.45G>A	c.(43-45)ctG>ctA	p.L15L		NM_001639.3	NP_001630.1	P02743	SAMP_HUMAN	amyloid P component, serum	15					acute-phase response|chaperone-mediated protein complex assembly|protein folding	extracellular space	metal ion binding|sugar binding|unfolded protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2)	20	all_hematologic(112;0.0429)					CCAGCCTCCTGGAAGCCTTTG	0.473													16	97					0	0	0.00499	0	0	A	159557756	G	A	159557756	2	1	189	1	0	0	0	0	0	0	0	1	763	1335	47	2		2	APCS	1	159557756	Silent	SNP	G	TCGA-FG-5965-01B-11D-1893-08	4614889	159557756	89692865	4	24458											
OBSCN	84033	broad.mit.edu	37	1	228504445	228504445	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-5965-01B-11D-1893-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0730868d-1fe9-4964-a0cc-a12a74d161e6	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr1:228504445G>A	ENST00000570156.2	+	62	16266	c.16192G>A	c.(16192-16194)Gcg>Acg	p.A5398T	OBSCN_ENST00000422127.1_Missense_Mutation_p.A4441T|OBSCN_ENST00000366707.4_Missense_Mutation_p.A2075T|OBSCN_ENST00000284548.11_Missense_Mutation_p.A4441T|OBSCN_ENST00000366709.4_Missense_Mutation_p.A1560T	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	4441	Ig-like 51.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				TCTGAAAAACGCGGCGGTCCG	0.672													5	28					0	0	0.001984	0	0	A	228504445	G	A	228504445	3	1	189	1	0	0	0	0	1	0	0	0	10860	1087	38	1	13519	1	OBSCN	1	228504445	Missense_Mutation	SNP	G	TCGA-FG-5965-01B-11D-1893-08	68946689	228504445	20746176	5	24459											
PDIA6	10130	broad.mit.edu	37	2	10928839	10928839	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-5965-01B-11D-1893-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0730868d-1fe9-4964-a0cc-a12a74d161e6	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr2:10928839T>C	ENST00000404371.2	-	12	1475	c.1138A>G	c.(1138-1140)Aaa>Gaa	p.K380E	PDIA6_ENST00000272227.3_Missense_Mutation_p.K328E|PDIA6_ENST00000404824.2_Missense_Mutation_p.K376E|PDIA6_ENST00000381611.4_Missense_Mutation_p.K333E|PDIA6_ENST00000540494.1_Missense_Mutation_p.K325E	NM_001282704.1	NP_001269633.1	Q15084	PDIA6_HUMAN	protein disulfide isomerase family A, member 6	328					cell redox homeostasis|glycerol ether metabolic process|protein folding	endoplasmic reticulum lumen|ER-Golgi intermediate compartment|melanosome|plasma membrane	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|prostate(2)	18	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.149)|OV - Ovarian serous cystadenocarcinoma(76;0.15)		ATTTTCTTTTTGTATTTGTCT	0.383													82	375					0	0	0.01441	0	0	C	10928839	T	C	10928839	3	2	189	1	0	0	0	0	1	0	0	0	11719	1821	63	3	356	3	PDIA6	2	10928839	Missense_Mutation	SNP	T	TCGA-FG-5965-01B-11D-1893-08		10928839	232270534	6	24460											
EPCAM	4072	broad.mit.edu	37	2	47613720	47613720	+	Missense_Mutation	SNP	A	A	G			TCGA-FG-5965-01B-11D-1893-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0730868d-1fe9-4964-a0cc-a12a74d161e6	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr2:47613720A>G	ENST00000263735.4	+	9	1271	c.913A>G	c.(913-915)Atg>Gtg	p.M305V	EPCAM_ENST00000405271.1_Missense_Mutation_p.M333V	NM_002354.2	NP_002345.2	P16422	EPCAM_HUMAN	epithelial cell adhesion molecule	305					positive regulation of cell proliferation	apical plasma membrane|basolateral plasma membrane|integral to membrane|lateral plasma membrane|tight junction	protein binding	p.0?(2)|p.?(1)		endometrium(3)|large_intestine(1)|liver(2)|lung(7)|skin(1)|stomach(1)	15						GATAAAGGAGATGGGTGAGAT	0.279													17	90					0	0	0.00499	0	0	G	47613720	A	G	47613720	3	3	189	1	0	0	0	0	1	0	0	0	5190	333	12	3	947	3	EPCAM	2	47613720	Missense_Mutation	SNP	A	TCGA-FG-5965-01B-11D-1893-08	36684881	47613720	195585653	7	24461											
THSD7B	80731	broad.mit.edu	37	2	138425373	138425373	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-5965-01B-11D-1893-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0730868d-1fe9-4964-a0cc-a12a74d161e6	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr2:138425373G>A	ENST00000409968.1	+	27	4859	c.4681G>A	c.(4681-4683)Gtt>Att	p.V1561I	THSD7B_ENST00000272643.3_Missense_Mutation_p.V1564I|THSD7B_ENST00000413152.2_Missense_Mutation_p.V1533I					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		GGTTTATGGCGTTTCAGGTGG	0.343													6	29					0	0	0.00308	0	0	A	138425373	G	A	138425373	3	1	189	1	0	0	0	0	1	0	0	0	15940	1145	40	1	4695	1	THSD7B	2	138425373	Missense_Mutation	SNP	G	TCGA-FG-5965-01B-11D-1893-08	90811653	138425373	104774000	8	24462											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-FG-5965-01B-11D-1893-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0730868d-1fe9-4964-a0cc-a12a74d161e6	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	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	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								23	62					0	0	0.00333	0	0	T	209113112	C	T	209113112	3	4	189	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-FG-5965-01B-11D-1893-08	70687739	209113112	34086261	9	24463											
CPS1	1373	broad.mit.edu	37	2	211525381	211525381	+	Splice_Site	SNP	T	T	A	rs113036168		TCGA-FG-5965-01B-11D-1893-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0730868d-1fe9-4964-a0cc-a12a74d161e6	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr2:211525381T>A	ENST00000233072.5	+	32	4123		c.e32+2		CPS1_ENST00000451903.2_Splice_Site|CPS1_ENST00000430249.2_Splice_Site	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial						carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		GCAATTAAGGTAACATTTTCA	0.318													38	56					0	0	0.004289	0	0	A	211525381	T	A	211525381	5	1	189	1	0	0	0	0	0	0	1	0	3846	1652	57	5	4077	5	CPS1	2	211525381	Splice_Site	SNP	T	TCGA-FG-5965-01B-11D-1893-08	2412269	211525381	31673992	10	24464											
CACNA2D2	9254	broad.mit.edu	37	3	50417431	50417431	+	Silent	SNP	C	C	T			TCGA-FG-5965-01B-11D-1893-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0730868d-1fe9-4964-a0cc-a12a74d161e6	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr3:50417431C>T	ENST00000435965.1	-	9	1034	c.861G>A	c.(859-861)tcG>tcA	p.S287S	CACNA2D2_ENST00000479441.1_Silent_p.S287S|CACNA2D2_ENST00000360963.3_Silent_p.S218S|CACNA2D2_ENST00000429770.1_Silent_p.S287S|CACNA2D2_ENST00000423994.2_Silent_p.S287S|CACNA2D2_ENST00000395083.1_Silent_p.S287S|CACNA2D2_ENST00000424201.2_Silent_p.S287S|CACNA2D2_ENST00000266039.3_Silent_p.S287S			Q9NY47	CA2D2_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 2	287					energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			breast(3)|cervix(1)|endometrium(4)|large_intestine(4)|lung(8)|ovary(2)|prostate(4)|skin(4)|urinary_tract(1)	31				BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	Gabapentin(DB00996)	CTTTGGGTGACGAGGCCCCCT	0.567													31	42					0	0	0.013726	0	0	T	50417431	C	T	50417431	2	4	189	1	0	0	0	0	0	0	0	1	2567	523	19	1		1	CACNA2D2	3	50417431	Silent	SNP	C	TCGA-FG-5965-01B-11D-1893-08		50417431	147604999	11	24465											
TRH	7200	broad.mit.edu	37	3	129695936	129695936	+	Silent	SNP	C	C	T			TCGA-FG-5965-01B-11D-1893-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0730868d-1fe9-4964-a0cc-a12a74d161e6	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr3:129695936C>T	ENST00000302649.3	+	3	1133	c.606C>T	c.(604-606)gcC>gcT	p.A202A	TRH_ENST00000507066.1_Silent_p.A198A	NM_007117.3	NP_009048.1	P20396	TRH_HUMAN	thyrotropin-releasing hormone	202					cell-cell signaling|hormone-mediated signaling pathway	extracellular region|soluble fraction	neuropeptide hormone activity|thyrotropin-releasing hormone activity			NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)	14						CCCAGGGAGCCTATGGTCAAG	0.652													11	46					0	0	0.010729	0	0	T	129695936	C	T	129695936	2	4	189	1	0	0	0	0	0	0	0	1	16539	668	24	2		2	TRH	3	129695936	Silent	SNP	C	TCGA-FG-5965-01B-11D-1893-08	79278505	129695936	68326494	12	24466											
PPP1R10	5514	broad.mit.edu	37	6	30576891	30576891	+	Frame_Shift_Del	DEL	T	T	-			TCGA-FG-5965-01B-11D-1893-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0730868d-1fe9-4964-a0cc-a12a74d161e6	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr6:30576891delT	ENST00000376511.2	-	4	709	c.157delA	c.(157-159)attfs	p.I53fs		NM_002714.3	NP_002705.2	Q96QC0	PP1RA_HUMAN	protein phosphatase 1, regulatory subunit 10	53	Interaction with TOX4 (By similarity).				protein import into nucleus|transcription, DNA-dependent	PTW/PP1 phosphatase complex	DNA binding|protein phosphatase inhibitor activity|RNA binding|zinc ion binding			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1)	25						TGCAGGAGAATGTTCAAGTAA	0.468													41	85	---	---	---	---						-	30576891	T	-	30576891	7	5	189	1	0	1	0	1	0	0	0	0	12401	1464	51	0	2733	0	PPP1R10	6	30576891	Frame_Shift_Del	DEL	T	TCGA-FG-5965-01B-11D-1893-08		30576891	140538176	13	24467											
MTO1	25821	broad.mit.edu	37	6	74183326	74183326	+	Silent	SNP	G	G	A			TCGA-FG-5965-01B-11D-1893-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0730868d-1fe9-4964-a0cc-a12a74d161e6	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr6:74183326G>A	ENST00000498286.1	+	4	1051	c.774G>A	c.(772-774)ccG>ccA	p.P258P	MTO1_ENST00000370300.4_Silent_p.P258P|MTO1_ENST00000415954.2_Silent_p.P258P|MTO1_ENST00000370305.1_Silent_p.P184P			Q9Y2Z2	MTO1_HUMAN	mitochondrial tRNA translation optimization 1	258					tRNA processing	mitochondrion	flavin adenine dinucleotide binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)	27						AGCATATACCGGACAATCCAT	0.423													27	45					0	0	0.00632	0	0	A	74183326	G	A	74183326	2	1	189	1	0	0	0	0	0	0	0	1	10001	1103	39	1		1	MTO1	6	74183326	Silent	SNP	G	TCGA-FG-5965-01B-11D-1893-08	43606435	74183326	96931741	14	24468											
MYO6	4646	broad.mit.edu	37	6	76602319	76602319	+	Missense_Mutation	SNP	C	C	T	rs143152727		TCGA-FG-5965-01B-11D-1893-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0730868d-1fe9-4964-a0cc-a12a74d161e6	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr6:76602319C>T	ENST00000369981.3	+	28	3298	c.3019C>T	c.(3019-3021)Cgc>Tgc	p.R1007C	MYO6_ENST00000369977.3_Missense_Mutation_p.R1007C|MYO6_ENST00000369975.1_Missense_Mutation_p.R1007C|MYO6_ENST00000369985.4_Missense_Mutation_p.R1007C			Q9UM54	MYO6_HUMAN	myosin VI	1007	Glu-rich.				actin filament-based movement|DNA damage response, signal transduction by p53 class mediator|endocytosis|intracellular protein transport|positive regulation of transcription from RNA polymerase II promoter|regulation of secretion|sensory perception of sound|synaptic transmission	cell cortex|clathrin coated vesicle membrane|coated pit|cytosol|DNA-directed RNA polymerase II, holoenzyme|filamentous actin|Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|ruffle membrane|unconventional myosin complex	actin filament binding|ADP binding|ATP binding|calmodulin binding|minus-end directed microfilament motor activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	58		all_hematologic(105;0.189)		BRCA - Breast invasive adenocarcinoma(397;0.223)		GGAGCAGGAGCGCAGGGACCG	0.627													6	130					0	0	0.001168	0	0	T	76602319	C	T	76602319	3	4	189	1	0	0	0	0	1	0	0	0	10129	768	27	1	3125	1	MYO6	6	76602319	Missense_Mutation	SNP	C	TCGA-FG-5965-01B-11D-1893-08	2418993	76602319	94512748	15	24469											
BVES	11149	broad.mit.edu	37	6	105573323	105573323	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-5965-01B-11D-1893-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0730868d-1fe9-4964-a0cc-a12a74d161e6	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr6:105573323T>C	ENST00000314641.5	-	4	698	c.482A>G	c.(481-483)tAt>tGt	p.Y161C	BVES_ENST00000336775.5_Missense_Mutation_p.Y161C|BVES_ENST00000446408.2_Missense_Mutation_p.Y161C	NM_001199563.1	NP_001186492.1	Q8NE79	POPD1_HUMAN	blood vessel epicardial substance	161					epithelial cell-cell adhesion|muscle organ development|positive regulation of locomotion|positive regulation of receptor recycling|regulation of Cdc42 GTPase activity|regulation of cell shape|regulation of Rac GTPase activity|substrate adhesion-dependent cell spreading|vesicle-mediated transport	integral to membrane|lateral plasma membrane|tight junction	structural molecule activity			NS(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|urinary_tract(1)	21		all_cancers(87;2.83e-05)|Acute lymphoblastic leukemia(125;1.95e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0101)|Colorectal(196;0.204)|Lung NSC(302;0.238)				CTCTGCAGCATAAGTTTGGCC	0.413													45	211					0	0	0.01441	0	0	C	105573323	T	C	105573323	3	2	189	1	0	0	0	0	1	0	0	0	1578	1406	49	3	620	3	BVES	6	105573323	Missense_Mutation	SNP	T	TCGA-FG-5965-01B-11D-1893-08	28971004	105573323	65541744	16	24470											
FUCA2	2519	broad.mit.edu	37	6	143823598	143823598	+	Missense_Mutation	SNP	A	A	G			TCGA-FG-5965-01B-11D-1893-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0730868d-1fe9-4964-a0cc-a12a74d161e6	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr6:143823598A>G	ENST00000002165.6	-	4	912	c.857T>C	c.(856-858)cTt>cCt	p.L286P	RP1-20N2.6_ENST00000589563.1_RNA|RP1-20N2.6_ENST00000610068.1_RNA|RP1-20N2.6_ENST00000591892.1_RNA|FUCA2_ENST00000367585.1_Intron|FUCA2_ENST00000438118.2_Intron	NM_032020.4	NP_114409.2	Q9BTY2	FUCO2_HUMAN	fucosidase, alpha-L- 2, plasma						fucose metabolic process	extracellular region	alpha-L-fucosidase activity|cation binding			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9				OV - Ovarian serous cystadenocarcinoma(155;7.45e-06)|GBM - Glioblastoma multiforme(68;0.0142)		ATGTGGCAAAAGATGTCCTGG	0.458													3	172					0	0	0.009096	0	0	G	143823598	A	G	143823598	3	3	189	1	0	0	0	0	1	0	0	0	6130	72	3	3	562	3	FUCA2	6	143823598	Missense_Mutation	SNP	A	TCGA-FG-5965-01B-11D-1893-08	38250275	143823598	27291469	17	24471											
QKI	9444	broad.mit.edu	37	6	163984476	163984476	+	Missense_Mutation	SNP	C	C	G			TCGA-FG-5965-01B-11D-1893-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0730868d-1fe9-4964-a0cc-a12a74d161e6	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr6:163984476C>G	ENST00000361752.3	+	6	1210	c.659C>G	c.(658-660)gCa>gGa	p.A220G	QKI_ENST00000453779.2_Missense_Mutation_p.A220G|QKI_ENST00000424802.3_Splice_Site_p.P212R|QKI_ENST00000275262.7_Missense_Mutation_p.A220G|QKI_ENST00000361195.2_Splice_Site_p.P212R|QKI_ENST00000392127.2_Missense_Mutation_p.A220G	NM_006775.2|NM_206853.2|NM_206854.2|NM_206855.2	NP_006766.1|NP_996735.1|NP_996736.1|NP_996737.1	Q96PU8	QKI_HUMAN	QKI, KH domain containing, RNA binding	220					mRNA processing|mRNA transport|regulation of translation|RNA splicing	cytoplasm|nucleus|plasma membrane	RNA binding|SH3 domain binding			central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(5)|ovary(1)|prostate(3)|urinary_tract(2)	27		Breast(66;5e-05)|Prostate(117;0.0235)|all_neural(5;0.0416)|Ovarian(120;0.0448)|Glioma(2;0.203)		all cancers(1;4.4e-46)|OV - Ovarian serous cystadenocarcinoma(33;6.91e-23)|GBM - Glioblastoma multiforme(1;2.94e-19)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|Kidney(3;0.000199)|KIRC - Kidney renal clear cell carcinoma(3;0.000234)		TCTCTTGCAGCAACAGCCCAG	0.507													8	46					0	0	0.00308	0	0	G	163984476	C	G	163984476	3	3	189	1	0	0	0	0	1	0	0	0	12925	710	25	5	681	5	QKI	6	163984476	Missense_Mutation	SNP	C	TCGA-FG-5965-01B-11D-1893-08	20160878	163984476	7130591	18	24472											
RP1L1	94137	broad.mit.edu	37	8	10465064	10465064	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-5965-01B-11D-1893-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0730868d-1fe9-4964-a0cc-a12a74d161e6	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr8:10465064C>T	ENST00000382483.3	-	4	6767	c.6544G>A	c.(6544-6546)Gcc>Acc	p.A2182T		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	2182					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		GCCTCTGGGGCCTCTACACCT	0.612													70	364					0	0	0.01441	0	0	T	10465064	C	T	10465064	3	4	189	1	0	0	0	0	1	0	0	0	13585	739	26	2	662	2	RP1L1	8	10465064	Missense_Mutation	SNP	C	TCGA-FG-5965-01B-11D-1893-08		10465064	135898958	19	24473											
LPL	4023	broad.mit.edu	37	8	19811731	19811731	+	Missense_Mutation	SNP	A	A	C			TCGA-FG-5965-01B-11D-1893-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0730868d-1fe9-4964-a0cc-a12a74d161e6	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr8:19811731A>C	ENST00000311322.8	+	5	1112	c.642A>C	c.(640-642)agA>agC	p.R214S		NM_000237.2	NP_000228.1	P06858	LIPL_HUMAN	lipoprotein lipase	214					fatty acid biosynthetic process|lipoprotein metabolic process|phospholipid metabolic process|positive regulation of cholesterol storage|positive regulation of sequestering of triglyceride|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling	anchored to membrane|chylomicron|plasma membrane|very-low-density lipoprotein particle	heparin binding|lipoprotein lipase activity|phospholipase activity|receptor binding|triglyceride lipase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	36				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	Clofibrate(DB00636)|Gemfibrozil(DB01241)|Orlistat(DB01083)	CATTCACCAGAGGGTCCCCTG	0.488													26	140					0	0	0.005443	0	0	C	19811731	A	C	19811731	3	2	189	1	0	0	0	0	1	0	0	0	8966	301	11	5	660	5	LPL	8	19811731	Missense_Mutation	SNP	A	TCGA-FG-5965-01B-11D-1893-08	9346667	19811731	126552291	20	24474											
VPS13B	157680	broad.mit.edu	37	8	100454689	100454689	+	Missense_Mutation	SNP	A	A	G			TCGA-FG-5965-01B-11D-1893-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0730868d-1fe9-4964-a0cc-a12a74d161e6	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr8:100454689A>G	ENST00000395996.1	+	23	3382	c.3271A>G	c.(3271-3273)Att>Gtt	p.I1091V	VPS13B_ENST00000357162.2_Missense_Mutation_p.I1091V|VPS13B_ENST00000358544.2_Missense_Mutation_p.I1091V			Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	1091					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			CCCAAGTACAATTGTATCTGG	0.388													9	81					0	0	0.010729	0	0	G	100454689	A	G	100454689	3	3	189	1	0	0	0	0	1	0	0	0	17250	101	4	3	3480	3	VPS13B	8	100454689	Missense_Mutation	SNP	A	TCGA-FG-5965-01B-11D-1893-08	80642958	100454689	45909333	21	24475											
OSTF1	26578	broad.mit.edu	37	9	77752522	77752522	+	Silent	SNP	T	T	G			TCGA-FG-5965-01B-11D-1893-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0730868d-1fe9-4964-a0cc-a12a74d161e6	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr9:77752522T>G	ENST00000346234.6	+	8	627	c.477T>G	c.(475-477)ctT>ctG	p.L159L		NM_012383.4	NP_036515.4	Q92882	OSTF1_HUMAN	osteoclast stimulating factor 1	159			L -> F (in dbSNP:rs17850197).		ossification|signal transduction	cytoplasm	identical protein binding			endometrium(1)|skin(1)	2						TCCAGTTGCTTCTGGCAAAAG	0.388													27	37					0	0	0.005443	0	0	G	77752522	T	G	77752522	2	3	189	1	0	0	0	0	0	0	0	1	11344	1770	62	5		5	OSTF1	9	77752522	Silent	SNP	T	TCGA-FG-5965-01B-11D-1893-08		77752522	63460909	22	24476											
ASTN2	23245	broad.mit.edu	37	9	119770407	119770407	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-5965-01B-11D-1893-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0730868d-1fe9-4964-a0cc-a12a74d161e6	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr9:119770407T>C	ENST00000313400.4	-	7	1655	c.1555A>G	c.(1555-1557)Aca>Gca	p.T519A	ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000373996.3_Missense_Mutation_p.T519A|ASTN2_ENST00000361209.2_Missense_Mutation_p.T468A			O75129	ASTN2_HUMAN	astrotactin 2	519	EGF-like 1.					integral to membrane				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						CAGGCATCTGTCGTCCTTTGT	0.577													3	99					0	0	0.004672	0	0	C	119770407	T	C	119770407	3	2	189	1	0	0	0	0	1	0	0	0	1064	1667	58	3	2764	3	ASTN2	9	119770407	Missense_Mutation	SNP	T	TCGA-FG-5965-01B-11D-1893-08	42017885	119770407	21443024	23	24477											
ACBD5	91452	broad.mit.edu	37	10	27524038	27524038	+	Silent	SNP	A	A	C			TCGA-FG-5965-01B-11D-1893-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0730868d-1fe9-4964-a0cc-a12a74d161e6	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr10:27524038A>C	ENST00000396271.3	-	3	411	c.285T>G	c.(283-285)ccT>ccG	p.P95P	ACBD5_ENST00000375901.1_Intron|ACBD5_ENST00000375888.1_Silent_p.P93P|ACBD5_ENST00000375897.3_Intron|ACBD5_ENST00000375905.4_Silent_p.P60P|ACBD5_ENST00000476758.1_Intron	NM_001271512.1|NM_145698.3	NP_001258441.1|NP_663736.2	Q5T8D3	ACBD5_HUMAN	acyl-CoA binding domain containing 5	93	ACB.				transport	integral to membrane|peroxisomal membrane	fatty-acyl-CoA binding			breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						ATCTTCCAATAGGATCCCAAA	0.313													5	52					0	0	0.001984	0	0	C	27524038	A	C	27524038	2	2	189	1	0	0	0	0	0	0	0	1	125	407	15	5		5	ACBD5	10	27524038	Silent	SNP	A	TCGA-FG-5965-01B-11D-1893-08		27524038	108010709	24	24478											
WDR11	55717	broad.mit.edu	37	10	122664218	122664218	+	Missense_Mutation	SNP	G	G	C			TCGA-FG-5965-01B-11D-1893-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0730868d-1fe9-4964-a0cc-a12a74d161e6	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr10:122664218G>C	ENST00000263461.6	+	25	3334	c.3088G>C	c.(3088-3090)Gat>Cat	p.D1030H	WDR11_ENST00000604509.1_3'UTR	NM_018117.11	NP_060587.8	Q9BZH6	WDR11_HUMAN	WD repeat domain 11	1030						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5)	38						TTATTACTGTGATTCACTGAA	0.418													10	109					0	0	0.008291	0	0	C	122664218	G	C	122664218	3	2	189	1	0	0	0	0	1	0	0	0	17333	1290	45	5	3186	5	WDR11	10	122664218	Missense_Mutation	SNP	G	TCGA-FG-5965-01B-11D-1893-08	95140180	122664218	12870529	25	24479											
OR51G1	79324	broad.mit.edu	37	11	4944710	4944710	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-5965-01B-11D-1893-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0730868d-1fe9-4964-a0cc-a12a74d161e6	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr11:4944710G>A	ENST00000321961.2	-	1	927	c.860C>T	c.(859-861)cCc>cTc	p.P287L	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001005237.1	NP_001005237.1	Q8NGK1	O51G1_HUMAN	olfactory receptor, family 51, subfamily G, member 1	287					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(4)|soft_tissue(1)	25		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		GTTCATAAGGGGTGGTACCAG	0.453													25	75					0	0	0.00632	0	0	A	4944710	G	A	4944710	3	1	189	1	0	0	0	0	1	0	0	0	11146	1232	43	2	107	2	OR51G1	11	4944710	Missense_Mutation	SNP	G	TCGA-FG-5965-01B-11D-1893-08		4944710	130061806	26	24480											
P2RX3	5024	broad.mit.edu	37	11	57135524	57135524	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-5965-01B-11D-1893-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0730868d-1fe9-4964-a0cc-a12a74d161e6	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr11:57135524G>A	ENST00000263314.2	+	9	918	c.884G>A	c.(883-885)cGc>cAc	p.R295H		NM_002559.3	NP_002550.2	P56373	P2RX3_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 3	295					positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling	integral to plasma membrane	ATP binding|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity			endometrium(4)|kidney(2)|large_intestine(4)|lung(15)|prostate(1)	26						AGTGAGTACCGCACCCTCCTG	0.577													5	99					0	0	0.001168	0	0	A	57135524	G	A	57135524	3	1	189	1	0	0	0	0	1	0	0	0	11388	1087	38	1	918	1	P2RX3	11	57135524	Missense_Mutation	SNP	G	TCGA-FG-5965-01B-11D-1893-08	52190814	57135524	77870992	27	24481											
MS4A1	931	broad.mit.edu	37	11	60230557	60230557	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-5965-01B-11D-1893-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0730868d-1fe9-4964-a0cc-a12a74d161e6	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr11:60230557G>A	ENST00000534668.1	+	3	531	c.242G>A	c.(241-243)tGt>tAt	p.C81Y	MS4A1_ENST00000389939.2_Missense_Mutation_p.C81Y|MS4A1_ENST00000345732.4_Missense_Mutation_p.C81Y|MS4A1_ENST00000534503.1_3'UTR|MS4A1_ENST00000532073.1_Missense_Mutation_p.C81Y|MS4A1_ENST00000528313.1_Intron	NM_152866.2	NP_690605.1	P11836	CD20_HUMAN	membrane-spanning 4-domains, subfamily A, member 1	81					B cell activation|immune response	integral to plasma membrane				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24					Ibritumomab(DB00078)|Rituximab(DB00073)|Tositumomab(DB00081)	GCACCCATCTGTGTGACTGTG	0.502													21	158					0	0	0.005443	0	0	A	60230557	G	A	60230557	3	1	189	1	0	0	0	0	1	0	0	0	9903	1377	48	2	248	2	MS4A1	11	60230557	Missense_Mutation	SNP	G	TCGA-FG-5965-01B-11D-1893-08	3095033	60230557	74775959	28	24482											
ANO2	57101	broad.mit.edu	37	12	5687543	5687543	+	Missense_Mutation	SNP	G	G	T			TCGA-FG-5965-01B-11D-1893-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0730868d-1fe9-4964-a0cc-a12a74d161e6	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr12:5687543G>T	ENST00000356134.5	-	23	2449	c.2378C>A	c.(2377-2379)aCc>aAc	p.T793N	ANO2_ENST00000546188.1_Missense_Mutation_p.T793N|ANO2_ENST00000327087.8_Missense_Mutation_p.T792N	NM_001278596.1	NP_001265525.1	Q9NQ90	ANO2_HUMAN	anoctamin 2	797						chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						GATATCTTTGGTTCTTACAGC	0.552													18	90					1.87028e-06	8.96177e-06	0.012319	1	0	T	5687543	G	T	5687543	3	4	189	1	0	0	0	0	1	0	0	0	691	1261	44	5	641	5	ANO2	12	5687543	Missense_Mutation	SNP	G	TCGA-FG-5965-01B-11D-1893-08		5687543	128164352	29	24483											
LTBR	4055	broad.mit.edu	37	12	6494301	6494301	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-5965-01B-11D-1893-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0730868d-1fe9-4964-a0cc-a12a74d161e6	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr12:6494301C>T	ENST00000228918.4	+	3	633	c.307C>T	c.(307-309)Ccc>Tcc	p.P103S	LTBR_ENST00000541102.1_5'UTR|LTBR_ENST00000546296.1_3'UTR|LTBR_ENST00000543190.1_5'UTR|LTBR_ENST00000539925.1_Missense_Mutation_p.P84S	NM_002342.2	NP_002333.1	P36941	TNR3_HUMAN	lymphotoxin beta receptor (TNFR superfamily, member 3)	103					apoptosis|cellular response to mechanical stimulus|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane	protein binding|receptor activity			breast(1)|cervix(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	15						GCTGTGCCGCCCCTGTGACCC	0.637													31	257					0	0	0.004289	0	0	T	6494301	C	T	6494301	3	4	189	1	0	0	0	0	1	0	0	0	9122	623	22	2	317	2	LTBR	12	6494301	Missense_Mutation	SNP	C	TCGA-FG-5965-01B-11D-1893-08	806758	6494301	127357594	30	24484											
FGD4	121512	broad.mit.edu	37	12	32791723	32791723	+	Silent	SNP	C	C	G			TCGA-FG-5965-01B-11D-1893-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0730868d-1fe9-4964-a0cc-a12a74d161e6	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr12:32791723C>G	ENST00000427716.2	+	16	2461	c.2037C>G	c.(2035-2037)gcC>gcG	p.A679A	FGD4_ENST00000525053.1_Silent_p.A791A|FGD4_ENST00000546442.1_Silent_p.A586A|FGD4_ENST00000534526.2_Silent_p.A816A|FGD4_ENST00000266482.3_Silent_p.A431A|FGD4_ENST00000531134.1_Silent_p.A764A	NM_139241.2	NP_640334.2	Q96M96	FGD4_HUMAN	FYVE, RhoGEF and PH domain containing 4	679	PH 2.				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|filopodium|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	27	Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)					TGTATGGTGCCCCCCAGGTAT	0.502													16	67					0	0	0.00499	0	0	G	32791723	C	G	32791723	2	3	189	1	0	0	0	0	0	0	0	1	5868	610	22	5		5	FGD4	12	32791723	Silent	SNP	C	TCGA-FG-5965-01B-11D-1893-08	26297422	32791723	101060172	31	24485											
SMARCC2	6601	broad.mit.edu	37	12	56565546	56565546	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-5965-01B-11D-1893-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0730868d-1fe9-4964-a0cc-a12a74d161e6	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr12:56565546C>T	ENST00000394023.3	-	21	2207	c.2102G>A	c.(2101-2103)gGc>gAc	p.G701D	SMARCC2_ENST00000347471.4_Missense_Mutation_p.G701D|SMARCC2_ENST00000267064.4_Missense_Mutation_p.G670D|SMARCC2_ENST00000550164.1_Missense_Mutation_p.G701D|RP11-977G19.5_ENST00000553176.1_RNA	NM_001130420.1	NP_001123892.1	Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	670					chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			AACAGGGTTGCCCGACTGACT	0.587													4	133					0	0	0.009096	0	0	T	56565546	C	T	56565546	3	4	189	1	0	0	0	0	1	0	0	0	14830	739	26	2	1671	2	SMARCC2	12	56565546	Missense_Mutation	SNP	C	TCGA-FG-5965-01B-11D-1893-08	23773823	56565546	77286349	32	24486											
PIBF1	10464	broad.mit.edu	37	13	73505357	73505357	+	Silent	SNP	A	A	G			TCGA-FG-5965-01B-11D-1893-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0730868d-1fe9-4964-a0cc-a12a74d161e6	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr13:73505357A>G	ENST00000326291.6	+	14	2123	c.1785A>G	c.(1783-1785)ttA>ttG	p.L595L		NM_006346.2	NP_006337.2	Q8WXW3	PIBF1_HUMAN	progesterone immunomodulatory binding factor 1	595						centrosome				breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24		Prostate(6;0.00191)|Breast(118;0.0736)|Acute lymphoblastic leukemia(28;0.0865)		GBM - Glioblastoma multiforme(99;0.000664)		CGCTGATTTTAAAAGATCTGG	0.318													13	56					0	0	0.003163	0	0	G	73505357	A	G	73505357	2	3	189	1	0	0	0	0	0	0	0	1	11927	359	13	3		3	PIBF1	13	73505357	Silent	SNP	A	TCGA-FG-5965-01B-11D-1893-08		73505357	41664521	33	24487											
OTX2	5015	broad.mit.edu	37	14	57270920	57270920	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-5965-01B-11D-1893-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0730868d-1fe9-4964-a0cc-a12a74d161e6	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr14:57270920C>T	ENST00000339475.5	-	4	535	c.259G>A	c.(259-261)Gag>Aag	p.E87K	OTX2_ENST00000408990.3_Missense_Mutation_p.E79K|OTX2_ENST00000554559.1_Intron|OTX2_ENST00000554788.1_Intron|OTX2_ENST00000555006.1_Missense_Mutation_p.E79K	NM_001270523.1|NM_001270524.1|NM_001270525.1|NM_021728.3	NP_001257452.1|NP_001257453.1|NP_001257454.1|NP_068374.1	P32243	OTX2_HUMAN	orthodenticle homeobox 2	79					axon guidance|forebrain development|midbrain development|positive regulation of embryonic development|positive regulation of gastrulation|primitive streak formation|protein complex assembly|regulation of fibroblast growth factor receptor signaling pathway|regulation of smoothened signaling pathway	growth cone|nucleus|protein complex	eukaryotic initiation factor 4E binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	19	Medulloblastoma(1;0.00184)|all_neural(1;0.00414)					ACCCTCGACTCGGGCAAGTTG	0.572													7	46					0	0	0.001984	0	0	T	57270920	C	T	57270920	3	4	189	1	0	0	0	0	1	0	0	0	11368	893	31	1	642	1	OTX2	14	57270920	Missense_Mutation	SNP	C	TCGA-FG-5965-01B-11D-1893-08		57270920	50078620	34	24488											
ADAM20	8748	broad.mit.edu	37	14	70991445	70991445	+	Silent	SNP	G	G	A			TCGA-FG-5965-01B-11D-1893-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0730868d-1fe9-4964-a0cc-a12a74d161e6	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr14:70991445G>A	ENST00000256389.3	-	2	424	c.180C>T	c.(178-180)atC>atT	p.I60I	RP11-486O13.4_ENST00000556646.1_lincRNA	NM_003814.4	NP_003805.3	O43506	ADA20_HUMAN	ADAM metallopeptidase domain 20	10					proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(2)	27			KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188)	all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344)		GAGTGACCCTGATGTGCACCA	0.522													48	76					0	0	0.01441	0	0	A	70991445	G	A	70991445	2	1	189	1	0	0	0	0	0	0	0	1	241	1280	45	2		2	ADAM20	14	70991445	Silent	SNP	G	TCGA-FG-5965-01B-11D-1893-08	13720525	70991445	36358095	35	24489											
NEDD4	4734	broad.mit.edu	37	15	56134228	56134228	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-5965-01B-11D-1893-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0730868d-1fe9-4964-a0cc-a12a74d161e6	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr15:56134228T>C	ENST00000508342.1	-	15	3298	c.2999A>G	c.(2998-3000)aAg>aGg	p.K1000R	NEDD4_ENST00000435532.3_Missense_Mutation_p.K581R|NEDD4_ENST00000338963.2_Missense_Mutation_p.K928R|NEDD4_ENST00000506154.1_Missense_Mutation_p.K984R	NM_001284338.1	NP_001271267.1	P46934	NEDD4_HUMAN	neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase	1000	HECT.				development involved in symbiotic interaction|glucocorticoid receptor signaling pathway|negative regulation of sodium ion transport|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage|negative regulation of vascular endothelial growth factor receptor signaling pathway|neuron projection development|positive regulation of nucleocytoplasmic transport|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein catabolic process|progesterone receptor signaling pathway|protein K63-linked ubiquitination|protein targeting to lysosome|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|receptor internalization|regulation of dendrite morphogenesis|response to calcium ion|transmission of virus	apicolateral plasma membrane|cell cortex|chromatin|cytosol|perinuclear region of cytoplasm|ubiquitin ligase complex	beta-2 adrenergic receptor binding|phosphoserine binding|phosphothreonine binding|proline-rich region binding|protein domain specific binding|RNA polymerase binding|sodium channel inhibitor activity|ubiquitin binding|ubiquitin-protein ligase activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	43				all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)		ATCCAATCCCTTTTCACCATC	0.433													3	113					0	0	0.009096	0	0	C	56134228	T	C	56134228	3	2	189	1	0	0	0	0	1	0	0	0	10357	1609	56	3	1004	3	NEDD4	15	56134228	Missense_Mutation	SNP	T	TCGA-FG-5965-01B-11D-1893-08		56134228	46397164	36	24490											
HS3ST4	9951	broad.mit.edu	37	16	26147050	26147050	+	Silent	SNP	T	T	A			TCGA-FG-5965-01B-11D-1893-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0730868d-1fe9-4964-a0cc-a12a74d161e6	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr16:26147050T>A	ENST00000331351.5	+	2	1244	c.852T>A	c.(850-852)atT>atA	p.I284I	HS3ST4_ENST00000475436.1_3'UTR	NM_006040.2	NP_006031.2	Q9Y661	HS3S4_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 4	284					heparan sulfate proteoglycan metabolic process	extracellular region|Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity			breast(2)|endometrium(3)|large_intestine(1)|lung(9)	15				GBM - Glioblastoma multiforme(48;0.0988)		TCAAACTGATTGTGGTGGTGA	0.502													28	169					0	0	0.005524	0	0	A	26147050	T	A	26147050	2	1	189	1	0	0	0	0	0	0	0	1	7408	1800	63	5		5	HS3ST4	16	26147050	Silent	SNP	T	TCGA-FG-5965-01B-11D-1893-08		26147050	64207703	37	24491											
MYBBP1A	10514	broad.mit.edu	37	17	4445912	4445912	+	Splice_Site	SNP	G	G	A			TCGA-FG-5965-01B-11D-1893-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0730868d-1fe9-4964-a0cc-a12a74d161e6	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr17:4445912G>A	ENST00000254718.4	-	21	3323	c.3017C>T	c.(3016-3018)cCg>cTg	p.P1006L	MYBBP1A_ENST00000381556.2_Splice_Site_p.P1006L			Q9BQG0	MBB1A_HUMAN	MYB binding protein (P160) 1a	1006					nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NLS-dependent protein nuclear import complex|nucleolus	DNA binding|DNA-directed DNA polymerase activity|transcription factor binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)	24						AACACTCACCGGGTGCCGGGA	0.637													17	88					0	0	0.00499	0	0	A	4445912	G	A	4445912	5	1	189	1	0	0	0	0	0	0	1	0	10056	1130	39	1	1033	1	MYBBP1A	17	4445912	Splice_Site	SNP	G	TCGA-FG-5965-01B-11D-1893-08		4445912	76749298	38	24492											
TP53	7157	broad.mit.edu	37	17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	rs121913343		TCGA-FG-5965-01B-11D-1893-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0730868d-1fe9-4964-a0cc-a12a74d161e6	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr17:7577121G>A	ENST00000420246.2	-	8	949	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000269305.4_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.R273C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	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).		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.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			22	7					0	0	0.010504	0	0	A	7577121	G	A	7577121	3	1	189	1	0	0	0	0	1	0	0	0	16442	1087	38	1	469	1	TP53	17	7577121	Missense_Mutation	SNP	G	TCGA-FG-5965-01B-11D-1893-08	3131209	7577121	73618089	39	24493											
KANK2	25959	broad.mit.edu	37	19	11304446	11304446	+	Missense_Mutation	SNP	C	C	T	rs147297854		TCGA-FG-5965-01B-11D-1893-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0730868d-1fe9-4964-a0cc-a12a74d161e6	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr19:11304446C>T	ENST00000432929.2	-	4	670	c.310G>A	c.(310-312)Ggc>Agc	p.G104S	KANK2_ENST00000355150.5_Missense_Mutation_p.G104S|KANK2_ENST00000586659.1_Missense_Mutation_p.G104S|KANK2_ENST00000589359.1_Missense_Mutation_p.G104S|KANK2_ENST00000589894.1_Missense_Mutation_p.G104S	NM_001136191.2	NP_001129663.1	Q63ZY3	KANK2_HUMAN	KN motif and ankyrin repeat domains 2	104										endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						AAGCCACGGCCGCAGTAGGAA	0.667													31	76					0	0	0.004878	0	0	T	11304446	C	T	11304446	3	4	189	1	0	0	0	0	1	0	0	0	8021	652	23	1	2309	1	KANK2	19	11304446	Missense_Mutation	SNP	C	TCGA-FG-5965-01B-11D-1893-08		11304446	47824537	40	24494											
EMR3	84658	broad.mit.edu	37	19	14749062	14749062	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-5965-01B-11D-1893-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0730868d-1fe9-4964-a0cc-a12a74d161e6	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr19:14749062T>C	ENST00000253673.5	-	11	1439	c.1339A>G	c.(1339-1341)Act>Gct	p.T447A	EMR3_ENST00000443157.2_Missense_Mutation_p.T321A|EMR3_ENST00000344373.4_Missense_Mutation_p.T395A|EMR3_ENST00000599900.1_Missense_Mutation_p.T232A	NM_032571.3	NP_115960.2	Q9BY15	EMR3_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 3	447					neuropeptide signaling pathway	extracellular space|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(1)|autonomic_ganglia(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(14)|ovary(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	50						TTCCGTGCAGTGAGGAAGAGG	0.572													34	60					0	0	0.013726	0	0	C	14749062	T	C	14749062	3	2	189	1	0	0	0	0	1	0	0	0	5134	1696	59	3	643	3	EMR3	19	14749062	Missense_Mutation	SNP	T	TCGA-FG-5965-01B-11D-1893-08	3444616	14749062	44379921	41	24495											
RYR1	6261	broad.mit.edu	37	19	38958451	38958451	+	Splice_Site	SNP	G	G	A			TCGA-FG-5965-01B-11D-1893-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0730868d-1fe9-4964-a0cc-a12a74d161e6	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr19:38958451G>A	ENST00000355481.4	+	25	3511	c.3380G>A	c.(3379-3381)cGc>cAc	p.R1127H	RYR1_ENST00000359596.3_Splice_Site_p.R1127H|RYR1_ENST00000360985.3_Splice_Site_p.R1127H	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1127	6 X approximate repeats.|B30.2/SPRY 2.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	AATGGGCACCGCGTGGGTACC	0.637													7	44					0	0	0.001984	0	0	A	38958451	G	A	38958451	5	1	189	1	0	0	0	0	0	0	1	0	13820	1101	38	1	3478	1	RYR1	19	38958451	Splice_Site	SNP	G	TCGA-FG-5965-01B-11D-1893-08	24209389	38958451	20170532	42	24496											
CACNG7	59284	broad.mit.edu	37	19	54445512	54445512	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-5965-01B-11D-1893-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0730868d-1fe9-4964-a0cc-a12a74d161e6	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr19:54445512C>T	ENST00000391767.1	+	6	1005	c.793C>T	c.(793-795)Ccg>Tcg	p.P265S	CACNG7_ENST00000222212.2_Missense_Mutation_p.P265S			P62955	CCG7_HUMAN	calcium channel, voltage-dependent, gamma subunit 7	265				GAGVMSVYLFTKRYAEEEMYRPHPAFYRPRLSDCSDYSGQF LQPEAWRRGRSPSDISSDVSIQMTQNYPPAIKYPDHLHIST SPC -> VTSVGPRL (in Ref. 1; AAK20030).	regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0711)		CATCAAGTACCCGGACCACCT	0.682													8	166					0	0	0.008291	0	0	T	54445512	C	T	54445512	3	4	189	1	0	0	0	0	1	0	0	0	2580	623	22	2	811	2	CACNG7	19	54445512	Missense_Mutation	SNP	C	TCGA-FG-5965-01B-11D-1893-08	15487061	54445512	4683471	43	24497											
MED15	51586	broad.mit.edu	37	22	20939211	20939211	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-5965-01B-11D-1893-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0730868d-1fe9-4964-a0cc-a12a74d161e6	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr22:20939211G>A	ENST00000263205.7	+	15	1942	c.1873G>A	c.(1873-1875)Gtc>Atc	p.V625I	MED15_ENST00000542773.1_3'UTR|MED15_ENST00000382974.2_Missense_Mutation_p.V514I|MED15_ENST00000406969.1_Missense_Mutation_p.V559I|MED15_ENST00000425759.2_Missense_Mutation_p.V474I|MED15_ENST00000292733.7_Missense_Mutation_p.V585I|MED15_ENST00000541476.1_Missense_Mutation_p.V559I	NM_001003891.1	NP_001003891.1	Q96RN5	MED15_HUMAN	mediator complex subunit 15	625					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|mediator complex	protein binding			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)			CCTGGATGCCGTCCTGGCCAA	0.632													52	99					0	0	0.01441	0	0	A	20939211	G	A	20939211	3	1	189	1	0	0	0	0	1	0	0	0	9483	1145	40	1	1931	1	MED15	22	20939211	Missense_Mutation	SNP	G	TCGA-FG-5965-01B-11D-1893-08		20939211	30365355	44	24498											
BEND2	139105	broad.mit.edu	37	X	18189326	18189326	+	Splice_Site	SNP	T	T	A			TCGA-FG-5965-01B-11D-1893-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0730868d-1fe9-4964-a0cc-a12a74d161e6	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chrX:18189326T>A	ENST00000380033.4	-	13	2114		c.e13-2		BEND2_ENST00000380030.3_Splice_Site	NM_153346.4	NP_699177.2	Q8NDZ0	BEND2_HUMAN	BEN domain containing 2											NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1)	49						CAAAATAGCCTAGAAGCAAAA	0.358													17	67					0	0	0.00499	0	0	A	18189326	T	A	18189326	5	1	189	1	0	0	0	0	0	0	1	0	1396	1536	53	5	453	5	BEND2	23	18189326	Splice_Site	SNP	T	TCGA-FG-5965-01B-11D-1893-08		18189326	137081234	45	24499											
HDAC6	10013	broad.mit.edu	37	X	48682404	48682404	+	Missense_Mutation	SNP	G	G	T			TCGA-FG-5965-01B-11D-1893-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0730868d-1fe9-4964-a0cc-a12a74d161e6	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chrX:48682404G>T	ENST00000334136.5	+	27	3554	c.3376G>T	c.(3376-3378)Ggc>Tgc	p.G1126C	HDAC6_ENST00000444343.2_Missense_Mutation_p.G1140C|HDAC6_ENST00000376619.2_Missense_Mutation_p.G1126C			Q9UBN7	HDAC6_HUMAN	histone deacetylase 6	1126					aggresome assembly|cellular response to hydrogen peroxide|Hsp90 deacetylation|lysosome localization|macroautophagy|misfolded or incompletely synthesized protein catabolic process|negative regulation of proteolysis|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|polyubiquitinated misfolded protein transport|positive regulation of apoptosis|positive regulation of cellular chaperone-mediated protein complex assembly|positive regulation of epithelial cell migration|positive regulation of receptor biosynthetic process|positive regulation of signal transduction|regulation of androgen receptor signaling pathway|regulation of receptor activity|response to growth factor stimulus|response to toxin|transcription, DNA-dependent|tubulin deacetylation	aggresome|caveola|cell leading edge|cytosol|histone deacetylase complex|microtubule associated complex|perinuclear region of cytoplasm	actin binding|alpha-tubulin binding|beta-catenin binding|dynein complex binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|Hsp90 protein binding|microtubule binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|polyubiquitin binding|tau protein binding|tubulin deacetylase activity|zinc ion binding			breast(2)|endometrium(6)|kidney(5)|large_intestine(8)|lung(9)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	40					Vorinostat(DB02546)	ACCTGCAGCAGGCCTAGACGT	0.542													30	65					1.2476e-16	6.06228e-16	0.00632	1	0	T	48682404	G	T	48682404	3	4	189	1	0	0	0	0	1	0	0	0	7052	1000	35	4	3478	4	HDAC6	23	48682404	Missense_Mutation	SNP	G	TCGA-FG-5965-01B-11D-1893-08	30493078	48682404	106588156	46	24500											
GPKOW	27238	broad.mit.edu	37	X	48972594	48972594	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-5965-01B-11D-1893-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0730868d-1fe9-4964-a0cc-a12a74d161e6	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chrX:48972594G>A	ENST00000156109.5	-	7	1075	c.997C>T	c.(997-999)Cgg>Tgg	p.R333W		NM_015698.4	NP_056513.2	Q92917	GPKOW_HUMAN	G patch domain and KOW motifs	333						nucleus	nucleic acid binding			breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|ovary(2)	21						AGGTGTTTCCGCTTCCTCTCT	0.572													19	86					0	0	0.010504	0	0	A	48972594	G	A	48972594	3	1	189	1	0	0	0	0	1	0	0	0	6653	1086	38	1	453	1	GPKOW	23	48972594	Missense_Mutation	SNP	G	TCGA-FG-5965-01B-11D-1893-08	290190	48972594	106297966	47	24501											
DGAT2L6	347516	broad.mit.edu	37	X	69424364	69424364	+	Missense_Mutation	SNP	T	T	A			TCGA-FG-5965-01B-11D-1893-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0730868d-1fe9-4964-a0cc-a12a74d161e6	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chrX:69424364T>A	ENST00000333026.3	+	6	957	c.857T>A	c.(856-858)gTt>gAt	p.V286D		NM_198512.1	NP_940914.1	Q6ZPD8	DG2L6_HUMAN	diacylglycerol O-acyltransferase 2-like 6	286					lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity			breast(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(1)	12						ATTACCACTGTTGGTGAGCTT	0.502													18	92					0	0	0.007413	0	0	A	69424364	T	A	69424364	3	1	189	1	0	0	0	0	1	0	0	0	4487	1725	60	5	879	5	DGAT2L6	23	69424364	Missense_Mutation	SNP	T	TCGA-FG-5965-01B-11D-1893-08	20451770	69424364	85846196	48	24502											
ATRX	546	broad.mit.edu	37	X	76889172	76889172	+	Nonsense_Mutation	SNP	A	A	T			TCGA-FG-5965-01B-11D-1893-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0730868d-1fe9-4964-a0cc-a12a74d161e6	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chrX:76889172A>T	ENST00000373344.5	-	18	5052	c.4838T>A	c.(4837-4839)tTg>tAg	p.L1613*	ATRX_ENST00000395603.3_Nonsense_Mutation_p.L1575*|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1613	Helicase ATP-binding.				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)	TTTGTCACACAAAAGAACTGT	0.328			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						14	37					0	0	0.00245	0	0	T	76889172	A	T	76889172	4	4	189	1	0	0	0	0	0	1	0	0	1206	131	5	5	2712	5	ATRX	23	76889172	Nonsense_Mutation	SNP	A	TCGA-FG-5965-01B-11D-1893-08	7464808	76889172	78381388	49	24503											
GPR174	84636	broad.mit.edu	37	X	78427488	78427488	+	Missense_Mutation	SNP	G	G	C			TCGA-FG-5965-01B-11D-1893-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0730868d-1fe9-4964-a0cc-a12a74d161e6	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chrX:78427488G>C	ENST00000276077.1	+	1	1020	c.984G>C	c.(982-984)atG>atC	p.M328I		NM_032553.1	NP_115942.1	Q9BXC1	GP174_HUMAN	G protein-coupled receptor 174	328						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	38						CTTCCACCATGACACCTGAAT	0.413										HNSCC(63;0.18)			10	87					0	0	0.008291	0	0	C	78427488	G	C	78427488	3	2	189	1	0	0	0	0	1	0	0	0	6712	1290	45	5	986	5	GPR174	23	78427488	Missense_Mutation	SNP	G	TCGA-FG-5965-01B-11D-1893-08	1538316	78427488	76843072	50	24504											
RPS6KA6	27330	broad.mit.edu	37	X	83403057	83403057	+	Silent	SNP	A	A	G			TCGA-FG-5965-01B-11D-1893-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0730868d-1fe9-4964-a0cc-a12a74d161e6	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chrX:83403057A>G	ENST00000262752.2	-	4	340	c.333T>C	c.(331-333)tcT>tcC	p.S111S	RPS6KA6_ENST00000543399.1_Silent_p.S111S	NM_014496.4	NP_055311.1	Q9UK32	KS6A6_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 6	111	Protein kinase 1.				axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						TACCTTTTAAAGAGGCTTTTT	0.303													16	25					0	0	0.004007	0	0	G	83403057	A	G	83403057	2	3	189	1	0	0	0	0	0	0	0	1	13707	59	3	3		3	RPS6KA6	23	83403057	Silent	SNP	A	TCGA-FG-5965-01B-11D-1893-08	4975569	83403057	71867503	51	24505											
XIAP	331	broad.mit.edu	37	X	123020096	123020096	+	Missense_Mutation	SNP	G	G	C			TCGA-FG-5965-01B-11D-1893-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0730868d-1fe9-4964-a0cc-a12a74d161e6	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chrX:123020096G>C	ENST00000371199.3	+	2	883	c.584G>C	c.(583-585)gGt>gCt	p.G195A	XIAP_ENST00000355640.3_Missense_Mutation_p.G195A|XIAP_ENST00000468691.1_Intron|XIAP_ENST00000434753.3_Missense_Mutation_p.G195A	NM_001167.3	NP_001158.2	P98170	XIAP_HUMAN	X-linked inhibitor of apoptosis	195					anti-apoptosis|apoptosis|induction of apoptosis by intracellular signals|response to DNA damage stimulus	cytosol	caspase inhibitor activity|ligase activity|protein binding|zinc ion binding			breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)	25						ACAGGTATTGGTGACCAAGTG	0.458									X-linked Lymphoproliferative syndrome				14	112					0	0	0.00245	0	0	C	123020096	G	C	123020096	3	2	189	1	0	0	0	0	1	0	0	0	17488	1261	44	5	586	5	XIAP	23	123020096	Missense_Mutation	SNP	G	TCGA-FG-5965-01B-11D-1893-08	39617039	123020096	32250464	52	24506											
TNFRSF9	3604	broad.mit.edu	37	1	7980912	7980914	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr1:7980912_7980914delCTT	ENST00000377507.3	-	8	915_917	c.749_751delAAG	c.(748-753)gaagga>gga	p.E250del		NM_001561.5	NP_001552.2	Q07011	TNR9_HUMAN	tumor necrosis factor receptor superfamily, member 9	250	Interaction with LRR-1.		E -> G (in a colorectal cancer sample; somatic mutation).		induction of apoptosis|negative regulation of cell proliferation	integral to plasma membrane	binding|receptor activity	p.E250G(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	Ovarian(185;0.0634)|all_lung(157;0.151)	all_epithelial(116;9.63e-21)|all_lung(118;1.29e-06)|Lung NSC(185;7.5e-06)|Renal(390;0.000147)|Breast(348;0.000625)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.93e-71)|GBM - Glioblastoma multiforme(8;3.72e-37)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;7.71e-06)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000419)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00103)|READ - Rectum adenocarcinoma(331;0.0649)		TCACATCCTCCTTCTTCTTCTTC	0.379													7	264	---	---	---	---						-	7980914	CTT	-	7980912	7	5	190	1	0	1	0	1	0	0	0	0	16360	690	24	0	20	0	TNFRSF9	1	7980912	In_Frame_Del	DEL	CTT	TCGA-FG-6688-01A-11D-1893-08		7980912	241269709	1	24507											
ZNF691	51058	broad.mit.edu	37	1	43317456	43317456	+	Missense_Mutation	SNP	G	G	T			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr1:43317456G>T	ENST00000372504.1	+	5	1243	c.893G>T	c.(892-894)gGc>gTc	p.G298V	ZNF691_ENST00000372506.1_Missense_Mutation_p.G276V|ZNF691_ENST00000372508.3_Missense_Mutation_p.G276V|ZNF691_ENST00000372502.1_Missense_Mutation_p.G298V|ZNF691_ENST00000372507.1_Missense_Mutation_p.G276V|ZNF691_ENST00000397044.3_Missense_Mutation_p.G307V			Q5VV52	ZN691_HUMAN	zinc finger protein 691	139						nucleus	DNA binding|zinc ion binding			large_intestine(2)|lung(2)|ovary(2)|prostate(1)	7	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				ACTCACTTGGGCGAACAGGCT	0.552													6	52					0.00198382	0.00255062	0.001984	1	0	T	43317456	G	T	43317456	3	4	190	1	0	0	0	0	1	0	0	0	18152	1203	42	5	829	5	ZNF691	1	43317456	Missense_Mutation	SNP	G	TCGA-FG-6688-01A-11D-1893-08	35336544	43317456	205933165	2	24508											
MYOC	4653	broad.mit.edu	37	1	171605340	171605340	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr1:171605340C>T	ENST00000037502.6	-	3	1311	c.1240G>A	c.(1240-1242)Gaa>Aaa	p.E414K		NM_000261.1	NP_000252.1	Q99972	MYOC_HUMAN	myocilin, trabecular meshwork inducible glucocorticoid response		Olfactomedin-like.		E -> K.		anatomical structure morphogenesis	cilium|extracellular space|rough endoplasmic reticulum	structural molecule activity	p.E414K(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(1)|urinary_tract(2)	28	all_cancers(6;5.47e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					CAGGTTTGTTCGAGTTCCAGA	0.527													34	129					0	0	0.004878	0	0	T	171605340	C	T	171605340	3	4	190	1	0	0	0	0	1	0	0	0	10134	893	31	1	278	1	MYOC	1	171605340	Missense_Mutation	SNP	C	TCGA-FG-6688-01A-11D-1893-08	128287884	171605340	77645281	3	24509											
SNRPE	6635	broad.mit.edu	37	1	203832798	203832798	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr1:203832798G>A	ENST00000414487.2	+	3	134	c.89G>A	c.(88-90)cGg>cAg	p.R30Q	SNRPE_ENST00000483099.1_3'UTR|SNRPE_ENST00000367208.1_5'UTR	NM_003094.2	NP_003085.1	P62304	RUXE_HUMAN	small nuclear ribonucleoprotein polypeptide E	30					histone mRNA metabolic process|ncRNA metabolic process|spliceosomal snRNP assembly|spliceosome assembly|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nucleoplasm|U12-type spliceosomal complex|U7 snRNP	protein binding|RNA binding			breast(1)|large_intestine(2)|lung(1)|skin(1)	5	all_cancers(21;0.103)		BRCA - Breast invasive adenocarcinoma(75;0.109)			CAGAGATCGCGGATTCAGGTG	0.473													555	123					0	0	0.00361	0	0	A	203832798	G	A	203832798	3	1	190	1	0	0	0	0	1	0	0	0	14921	1116	39	1	99	1	SNRPE	1	203832798	Missense_Mutation	SNP	G	TCGA-FG-6688-01A-11D-1893-08	32227458	203832798	45417823	4	24510											
SRBD1	55133	broad.mit.edu	37	2	45616592	45616592	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr2:45616592G>A	ENST00000263736.4	-	21	2907	c.2845C>T	c.(2845-2847)Cga>Tga	p.R949*	SRBD1_ENST00000535761.1_Nonsense_Mutation_p.R468*|SRBD1_ENST00000490133.1_5'UTR	NM_018079.4	NP_060549.4	Q8N5C6	SRBD1_HUMAN	S1 RNA binding domain 1	949	S1 motif.				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		hydrolase activity, acting on ester bonds|RNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(13)|large_intestine(8)|lung(15)|skin(2)|stomach(1)|urinary_tract(1)	49		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)			GTTACATTTCGTATGGGAATC	0.433													15	65					0	0	0.003163	0	0	A	45616592	G	A	45616592	4	1	190	1	0	0	0	0	0	1	0	0	15189	1153	40	1	146	1	SRBD1	2	45616592	Nonsense_Mutation	SNP	G	TCGA-FG-6688-01A-11D-1893-08		45616592	197582781	5	24511											
PPP3R1	5534	broad.mit.edu	37	2	68413615	68413615	+	Silent	SNP	A	A	G			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr2:68413615A>G	ENST00000234310.3	-	5	853	c.450T>C	c.(448-450)ttT>ttC	p.F150F	PPP3R1_ENST00000409377.1_Silent_p.F140F|PPP3R1_ENST00000409752.1_Silent_p.F169F|RP11-474G23.1_ENST00000406334.3_Silent_p.F140F	NM_000945.3	NP_000936.1	P63098	CANB1_HUMAN	protein phosphatase 3, regulatory subunit B, alpha	150	EF-hand 4.				activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals	calcineurin complex|cytosol	calcium ion binding|calcium-dependent protein serine/threonine phosphatase activity|calmodulin binding			large_intestine(1)	1					Pimecrolimus(DB00337)	AGAATTCTTCAAAGGATATTC	0.333													14	93					0	0	0.004007	0	0	G	68413615	A	G	68413615	2	3	190	1	0	0	0	0	0	0	0	1	12449	127	5	3		3	PPP3R1	2	68413615	Silent	SNP	A	TCGA-FG-6688-01A-11D-1893-08	22797023	68413615	174785758	6	24512											
CHST10	9486	broad.mit.edu	37	2	101009737	101009737	+	Silent	SNP	C	C	A			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr2:101009737C>A	ENST00000264249.3	-	7	1426	c.1041G>T	c.(1039-1041)ggG>ggT	p.G347G	CHST10_ENST00000409701.1_Silent_p.G347G|CHST10_ENST00000542617.1_Silent_p.G395G	NM_004854.4	NP_004845.1	O43529	CHSTA_HUMAN	carbohydrate sulfotransferase 10	347					carbohydrate biosynthetic process|cell adhesion	Golgi membrane|integral to membrane|membrane fraction				breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)	16						GTTTCTGGTACCCAAAGAGCT	0.448													14	101					6.49762e-13	8.89891e-13	0.006122	1	0	A	101009737	C	A	101009737	2	1	190	1	0	0	0	0	0	0	0	1	3420	494	18	5		5	CHST10	2	101009737	Silent	SNP	C	TCGA-FG-6688-01A-11D-1893-08	32596122	101009737	142189636	7	24513											
IL1RL1	9173	broad.mit.edu	37	2	102957203	102957203	+	Silent	SNP	C	C	T			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr2:102957203C>T	ENST00000311734.2	+	5	864	c.525C>T	c.(523-525)gaC>gaT	p.D175D	IL1RL1_ENST00000233954.1_Silent_p.D175D|IL1RL1_ENST00000404917.2_Silent_p.D58D|IL1RL1_ENST00000393393.3_Silent_p.D175D|IL1RL1_ENST00000409584.1_Silent_p.D175D	NM_001282408.1	NP_001269337.1	Q01638	ILRL1_HUMAN	interleukin 1 receptor-like 1	175	Ig-like C2-type 2.				innate immune response	integral to membrane	interleukin-1 receptor activity|receptor signaling protein activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1)	16						TGACTGAGGACGCAGGTGATT	0.423													21	89					0	0	0.00278	0	0	T	102957203	C	T	102957203	2	4	190	1	0	0	0	0	0	0	0	1	7707	535	19	1		1	IL1RL1	2	102957203	Silent	SNP	C	TCGA-FG-6688-01A-11D-1893-08	1947466	102957203	140242170	8	24514											
MYO7B	4648	broad.mit.edu	37	2	128341815	128341815	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr2:128341815C>T	ENST00000389524.4	+	13	1515	c.1462C>T	c.(1462-1464)Cac>Tac	p.H488Y	MYO7B_ENST00000428314.1_Missense_Mutation_p.H488Y|MYO7B_ENST00000409816.2_Missense_Mutation_p.H488Y			Q6PIF6	MYO7B_HUMAN	myosin VIIB	488	Myosin head-like.					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		GGACTATATCCACTACACCGA	0.577													14	77					0	0	0.003163	0	0	T	128341815	C	T	128341815	3	4	190	1	0	0	0	0	1	0	0	0	10131	594	21	2	1508	2	MYO7B	2	128341815	Missense_Mutation	SNP	C	TCGA-FG-6688-01A-11D-1893-08	25384612	128341815	114857558	9	24515											
TTN	7273	broad.mit.edu	37	2	179396156	179396156	+	Silent	SNP	A	A	G			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr2:179396156A>G	ENST00000589042.1	-	358	105410	c.105186T>C	c.(105184-105186)taT>taC	p.Y35062Y	TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Silent_p.Y26189Y|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000591111.1_Silent_p.Y33421Y|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000589355.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Silent_p.Y26122Y|TTN-AS1_ENST00000589434.1_RNA|TTN_ENST00000460472.2_Silent_p.Y25997Y|TTN_ENST00000342992.6_Silent_p.Y32494Y|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000431259.2_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	33421							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATGAAACAGCATACGCCTCTG	0.473													33	120					0	0	0.002445	0	0	G	179396156	A	G	179396156	2	3	190	1	0	0	0	0	0	0	0	1	16797	224	8	3		3	TTN	2	179396156	Silent	SNP	A	TCGA-FG-6688-01A-11D-1893-08	51054341	179396156	63803217	10	24516											
TTN	7273	broad.mit.edu	37	2	179585342	179585342	+	Missense_Mutation	SNP	C	C	A			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr2:179585342C>A	ENST00000589042.1	-	80	23371	c.23147G>T	c.(23146-23148)gGt>gTt	p.G7716V	TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G7399V|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.G6472V	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	7399	Ig-like 59.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CACATCAGAACCTTTAAGAGC	0.393													5	34					2.0095e-06	2.66523e-06	0.001984	1	0	A	179585342	C	A	179585342	3	1	190	1	0	0	0	0	1	0	0	0	16797	507	18	5	81514	5	TTN	2	179585342	Missense_Mutation	SNP	C	TCGA-FG-6688-01A-11D-1893-08	189186	179585342	63614031	11	24517											
PTH2R	5746	broad.mit.edu	37	2	209309554	209309554	+	Silent	SNP	C	C	A	rs143390240		TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr2:209309554C>A	ENST00000272847.2	+	7	1008	c.795C>A	c.(793-795)atC>atA	p.I265I	PTH2R_ENST00000413482.1_3'UTR	NM_005048.2	NP_005039.1	P49190	PTH2R_HUMAN	parathyroid hormone 2 receptor	265						integral to plasma membrane	parathyroid hormone receptor activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(21)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43				Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)		ATAATCTCATCTTTGTGGCTT	0.413													36	192					2.24893e-16	3.11391e-16	0.002222	1	0	A	209309554	C	A	209309554	2	1	190	1	0	0	0	0	0	0	0	1	12810	903	32	4		4	PTH2R	2	209309554	Silent	SNP	C	TCGA-FG-6688-01A-11D-1893-08	29724212	209309554	33889819	12	24518											
SCN10A	6336	broad.mit.edu	37	3	38755451	38755451	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr3:38755451G>A	ENST00000449082.2	-	21	3801	c.3802C>T	c.(3802-3804)Cgg>Tgg	p.R1268W		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1268					sensory perception	voltage-gated sodium channel complex		p.R1268W(1)		NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	AGACTTACCCGCATGCCTTCA	0.552													22	93					0	0	0.00333	0	0	A	38755451	G	A	38755451	3	1	190	1	0	0	0	0	1	0	0	0	13966	1086	38	1	2096	1	SCN10A	3	38755451	Missense_Mutation	SNP	G	TCGA-FG-6688-01A-11D-1893-08		38755451	159266979	13	24519											
SETD2	29072	broad.mit.edu	37	3	47098400	47098400	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr3:47098400G>A	ENST00000409792.3	-	15	6916	c.6874C>T	c.(6874-6876)Caa>Taa	p.Q2292*		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	2292	Gln-rich.|Low charge region.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		ATGGTTGCTTGAGACTGTGCA	0.463			"N, F, S, Mis"		clear cell renal carcinoma								14	87					0	0	0.001855	0	0	A	47098400	G	A	47098400	4	1	190	1	0	0	0	0	0	1	0	0	14185	1299	45	2	848	2	SETD2	3	47098400	Nonsense_Mutation	SNP	G	TCGA-FG-6688-01A-11D-1893-08	8342949	47098400	150924030	14	24520											
ERC2	26059	broad.mit.edu	37	3	56026258	56026258	+	Silent	SNP	G	G	A			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr3:56026258G>A	ENST00000288221.6	-	11	2337	c.2082C>T	c.(2080-2082)gaC>gaT	p.D694D		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	694						cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		TCATCCTGGAGTCATCTTCAA	0.428													33	185					0	0	0.00623	0	0	A	56026258	G	A	56026258	2	1	190	1	0	0	0	0	0	0	0	1	5239	1020	36	2		2	ERC2	3	56026258	Silent	SNP	G	TCGA-FG-6688-01A-11D-1893-08	8927858	56026258	141996172	15	24521											
MORC1	27136	broad.mit.edu	37	3	108773665	108773665	+	Nonsense_Mutation	SNP	T	T	A			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr3:108773665T>A	ENST00000232603.5	-	14	1322	c.1240A>T	c.(1240-1242)Aaa>Taa	p.K414*	MORC1_ENST00000483760.1_Nonsense_Mutation_p.K414*	NM_014429.3	NP_055244.3	Q86VD1	MORC1_HUMAN	MORC family CW-type zinc finger 1	414					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						AATTCCTGTTTATTATGGGAT	0.383													18	72					0	0	0.008871	0	0	A	108773665	T	A	108773665	4	1	190	1	0	0	0	0	0	1	0	0	9750	1763	61	5	1774	5	MORC1	3	108773665	Nonsense_Mutation	SNP	T	TCGA-FG-6688-01A-11D-1893-08	52747407	108773665	89248765	16	24522											
TRIM60	166655	broad.mit.edu	37	4	165962269	165962269	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr4:165962269C>T	ENST00000512596.1	+	3	1261	c.1045C>T	c.(1045-1047)Cga>Tga	p.R349*	TRIM60_ENST00000341062.5_Nonsense_Mutation_p.R349*|TRIM60_ENST00000508504.1_Nonsense_Mutation_p.R349*	NM_152620.2	NP_689833.1	Q495X7	TRI60_HUMAN	tripartite motif containing 60	349	B30.2/SPRY.					intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	29	all_hematologic(180;0.221)	Prostate(90;0.0959)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.0844)		TAGTTCTGGCCGACATTACTG	0.433													20	104					0	0	0.001882	0	0	T	165962269	C	T	165962269	4	4	190	1	0	0	0	0	0	1	0	0	16596	644	23	1	1047	1	TRIM60	4	165962269	Nonsense_Mutation	SNP	C	TCGA-FG-6688-01A-11D-1893-08		165962269	25192007	17	24523											
PRLR	5618	broad.mit.edu	37	5	35065590	35065590	+	Silent	SNP	C	C	T			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr5:35065590C>T	ENST00000382002.5	-	10	1896	c.1470G>A	c.(1468-1470)acG>acA	p.T490T	PRLR_ENST00000397391.3_Intron|PRLR_ENST00000310101.5_Intron|PRLR_ENST00000511486.1_Silent_p.T389T|PRLR_ENST00000513753.1_Intron|PRLR_ENST00000348262.3_Intron|PRLR_ENST00000342362.5_Silent_p.T389T|PRLR_ENST00000231423.3_Intron|PRLR_ENST00000542609.1_Intron	NM_000949.5	NP_000940.1	P16471	PRLR_HUMAN	prolactin receptor	490					activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process|T cell activation	cell surface|extracellular region|integral to membrane	metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity	p.T490T(1)		central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48	all_lung(31;3.83e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	GCAGCCAGGGCGTATCCTGGT	0.483													25	121					0	0	0.003954	0	0	T	35065590	C	T	35065590	2	4	190	1	0	0	0	0	0	0	0	1	12583	755	27	1		1	PRLR	5	35065590	Silent	SNP	C	TCGA-FG-6688-01A-11D-1893-08		35065590	145849670	18	24524											
PCDHA1	56147	broad.mit.edu	37	5	140166068	140166068	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr5:140166068C>T	ENST00000504120.2	+	1	193	c.193C>T	c.(193-195)Cgg>Tgg	p.R65W	PCDHA1_ENST00000378133.3_Missense_Mutation_p.R65W|PCDHA1_ENST00000394633.3_Missense_Mutation_p.R65W	NM_018900.2	NP_061723.1														breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCGCCTGTTCCGGGTGGCGTC	0.587													30	119					0	0	0.002096	0	0	T	140166068	C	T	140166068	3	4	190	1	0	0	0	0	1	0	0	0	11566	643	23	1	195	1	PCDHA1	5	140166068	Missense_Mutation	SNP	C	TCGA-FG-6688-01A-11D-1893-08	105100478	140166068	40749192	19	24525											
PCDHA2	56146	broad.mit.edu	37	5	140176926	140176926	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr5:140176926T>C	ENST00000526136.1	+	1	2377	c.2377T>C	c.(2377-2379)Tac>Cac	p.Y793H	PCDHA2_ENST00000520672.2_Missense_Mutation_p.Y793H|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000378132.1_Missense_Mutation_p.Y793H|PCDHA1_ENST00000394633.3_Intron	NM_018905.2	NP_061728.1														NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGAATCAGAATACGTAGGAAA	0.403													14	48					0	0	0.001855	0	0	C	140176926	T	C	140176926	3	2	190	1	0	0	0	0	1	0	0	0	11571	1406	49	3	2379	3	PCDHA2	5	140176926	Missense_Mutation	SNP	T	TCGA-FG-6688-01A-11D-1893-08	10858	140176926	40738334	20	24526											
PCDHA3	56145	broad.mit.edu	37	5	140182210	140182210	+	Silent	SNP	G	G	T			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr5:140182210G>T	ENST00000522353.2	+	1	1428	c.1428G>T	c.(1426-1428)acG>acT	p.T476T	PCDHA3_ENST00000532566.2_Silent_p.T476T|PCDHA2_ENST00000520672.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018906.2	NP_061729.1														NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACATCTTCACGGTGTCTGCGC	0.667													5	220					1.08611e-07	1.45585e-07	0.000978	1	0	T	140182210	G	T	140182210	2	4	190	1	0	0	0	0	0	0	0	1	11572	1103	39	5		5	PCDHA3	5	140182210	Silent	SNP	G	TCGA-FG-6688-01A-11D-1893-08	5284	140182210	40733050	21	24527											
PCDHGA4	56111	broad.mit.edu	37	5	140736510	140736510	+	Silent	SNP	C	C	T			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr5:140736510C>T	ENST00000571252.1	+	1	1743	c.1743C>T	c.(1741-1743)tcC>tcT	p.S581S	PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018917.2	NP_061740														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACCCCGCTCCGCAGATTCCG	0.592													38	192					0	0	0.00623	0	0	T	140736510	C	T	140736510	2	4	190	1	0	0	0	0	0	0	0	1	11603	639	23	1		1	PCDHGA4	5	140736510	Silent	SNP	C	TCGA-FG-6688-01A-11D-1893-08	554300	140736510	40178750	22	24528											
RARS	5917	broad.mit.edu	37	5	167921621	167921621	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr5:167921621G>A	ENST00000231572.3	+	5	599	c.545G>A	c.(544-546)gGa>gAa	p.G182E	RARS_ENST00000538719.1_5'UTR	NM_002887.3	NP_002878.2	P54136	SYRC_HUMAN	arginyl-tRNA synthetase	182					arginyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	arginine-tRNA ligase activity|ATP binding|protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|stomach(1)	22	Renal(175;0.000159)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0208)|all_neural(177;0.0227)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0693)|Epithelial(171;0.131)|OV - Ovarian serous cystadenocarcinoma(192;0.156)		CTAGTGAATGGAGTTCAACTA	0.343													14	87					0	0	0.004007	0	0	A	167921621	G	A	167921621	3	1	190	1	0	0	0	0	1	0	0	0	13110	1174	41	2	563	2	RARS	5	167921621	Missense_Mutation	SNP	G	TCGA-FG-6688-01A-11D-1893-08	27185111	167921621	12993639	23	24529											
FARS2	10667	broad.mit.edu	37	6	5431389	5431389	+	Silent	SNP	A	A	G			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr6:5431389A>G	ENST00000324331.6	+	4	1224	c.888A>G	c.(886-888)caA>caG	p.Q296Q	FARS2_ENST00000274680.4_Silent_p.Q296Q			O95363	SYFM_HUMAN	phenylalanyl-tRNA synthetase 2, mitochondrial	296					phenylalanyl-tRNA aminoacylation|tRNA processing	mitochondrial matrix|soluble fraction	ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|tRNA binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|prostate(1)|stomach(2)	15	Ovarian(93;0.11)	all_hematologic(90;0.0104)			L-Phenylalanine(DB00120)	TGATGGAACAACAACTGGTCA	0.458													20	112					0	0	0.008871	0	0	G	5431389	A	G	5431389	2	3	190	1	0	0	0	0	0	0	0	1	5711	40	2	3		3	FARS2	6	5431389	Silent	SNP	A	TCGA-FG-6688-01A-11D-1893-08		5431389	165683678	24	24530											
C2	717	broad.mit.edu	37	6	31912793	31912793	+	Missense_Mutation	SNP	T	T	A			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr6:31912793T>A	ENST00000299367.5	+	17	2342	c.2066T>A	c.(2065-2067)tTc>tAc	p.F689Y	C2_ENST00000468407.1_3'UTR|C2_ENST00000452323.2_Missense_Mutation_p.F475Y|C2_ENST00000469372.1_Missense_Mutation_p.F443Y|CFB_ENST00000456570.1_Intron|CFB_ENST00000477310.1_Intron|C2_ENST00000442278.2_Missense_Mutation_p.F557Y|CFB_ENST00000556679.1_Intron	NM_000063.4	NP_000054.2			complement component 2											haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	27		Ovarian(999;0.00965)		LUAD - Lung adenocarcinoma(999;0.247)		GAGCGGAGATTCAGGTTTTTT	0.547													38	152					0	0	0.006999	0	0	A	31912793	T	A	31912793	3	1	190	1	0	0	0	0	1	0	0	0	2088	1783	62	5	2209	5	C2	6	31912793	Missense_Mutation	SNP	T	TCGA-FG-6688-01A-11D-1893-08	26481404	31912793	139202274	25	24531											
SPDEF	25803	broad.mit.edu	37	6	34508917	34508917	+	Silent	SNP	G	G	A			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr6:34508917G>A	ENST00000374037.3	-	3	892	c.478C>T	c.(478-480)Ctg>Ttg	p.L160L	SPDEF_ENST00000544425.1_Silent_p.L160L	NM_012391.2	NP_036523.1	O95238	SPDEF_HUMAN	SAM pointed domain containing ETS transcription factor	160	PNT.				negative regulation of survival gene product expression|negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)	15						TCTGTCCACAGGAGCCACTTC	0.642													7	9					0	0	0.004482	0	0	A	34508917	G	A	34508917	2	1	190	1	0	0	0	0	0	0	0	1	15082	991	35	2		2	SPDEF	6	34508917	Silent	SNP	G	TCGA-FG-6688-01A-11D-1893-08	2596124	34508917	136606150	26	24532											
TDRD6	221400	broad.mit.edu	37	6	46655895	46655895	+	Silent	SNP	G	G	A			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr6:46655895G>A	ENST00000544460.1	+	1	284	c.30G>A	c.(28-30)ccG>ccA	p.P10P	TDRD6_ENST00000316081.6_Silent_p.P10P|RP11-446F17.3_ENST00000434329.2_RNA	NM_001168359.1	NP_001161831.1	O60522	TDRD6_HUMAN	tudor domain containing 6	10					cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			TGCCGGCGCCGGGGGCCTCGC	0.721													3	7					0	0	0.004672	0	0	A	46655895	G	A	46655895	2	1	190	1	0	0	0	0	0	0	0	1	15793	1103	39	1		1	TDRD6	6	46655895	Silent	SNP	G	TCGA-FG-6688-01A-11D-1893-08	12146978	46655895	124459172	27	24533											
DSE	29940	broad.mit.edu	37	6	116758080	116758080	+	Missense_Mutation	SNP	A	A	C			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr6:116758080A>C	ENST00000331677.3	+	7	2893	c.2449A>C	c.(2449-2451)Aaa>Caa	p.K817Q	DSE_ENST00000452085.3_Missense_Mutation_p.K817Q|DSE_ENST00000537543.1_Missense_Mutation_p.K836Q|DSE_ENST00000359564.2_Missense_Mutation_p.K817Q			Q9UL01	DSE_HUMAN	dermatan sulfate epimerase	817					dermatan sulfate biosynthetic process	endoplasmic reticulum|Golgi apparatus|integral to membrane	chondroitin-glucuronate 5-epimerase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)		CAAACGCTATAAATTTGTGGA	0.423													8	48					0	0	0.00308	0	0	C	116758080	A	C	116758080	3	2	190	1	0	0	0	0	1	0	0	0	4800	363	13	5	2467	5	DSE	6	116758080	Missense_Mutation	SNP	A	TCGA-FG-6688-01A-11D-1893-08	70102185	116758080	54356987	28	24534											
ABCA13	154664	broad.mit.edu	37	7	48320993	48320993	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr7:48320993T>C	ENST00000435803.1	+	19	8804	c.8780T>C	c.(8779-8781)aTg>aCg	p.M2927T		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	2927					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TCAGAAGCCATGGAGATGCTG	0.438													4	25					0	0	0.000248	0	0	C	48320993	T	C	48320993	3	2	190	1	0	0	0	0	1	0	0	0	31	1464	51	3	8683	3	ABCA13	7	48320993	Missense_Mutation	SNP	T	TCGA-FG-6688-01A-11D-1893-08		48320993	110817670	29	24535											
COBL	23242	broad.mit.edu	37	7	51096966	51096966	+	Silent	SNP	T	T	C			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr7:51096966T>C	ENST00000395542.2	-	12	2257	c.2073A>G	c.(2071-2073)aaA>aaG	p.K691K	COBL_ENST00000265136.7_Silent_p.K609K			O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	609										NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					CACGGATTCCTTTTCCGACGT	0.537													3	112					0	0	0.000248	0	0	C	51096966	T	C	51096966	2	2	190	1	0	0	0	0	0	0	0	1	3676	1606	56	3		3	COBL	7	51096966	Silent	SNP	T	TCGA-FG-6688-01A-11D-1893-08	2775973	51096966	108041697	30	24536											
MUC17	140453	broad.mit.edu	37	7	100679593	100679593	+	Silent	SNP	A	A	G			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr7:100679593A>G	ENST00000306151.4	+	3	4960	c.4896A>G	c.(4894-4896)ctA>ctG	p.L1632L		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1632	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GAAGTCCTCTATTAACAAGTA	0.493													64	557					0	0	0.00361	0	0	G	100679593	A	G	100679593	2	3	190	1	0	0	0	0	0	0	0	1	10022	436	16	3		3	MUC17	7	100679593	Silent	SNP	A	TCGA-FG-6688-01A-11D-1893-08	49582627	100679593	58459070	31	24537											
FLNC	2318	broad.mit.edu	37	7	128489530	128489530	+	Silent	SNP	C	C	T			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr7:128489530C>T	ENST00000325888.8	+	30	5358	c.5097C>T	c.(5095-5097)gaC>gaT	p.D1699D	FLNC_ENST00000346177.6_Silent_p.D1699D	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	1699					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						AGAACCATGACGGTACCTTTG	0.612													10	88					0	0	0.000978	0	0	T	128489530	C	T	128489530	2	4	190	1	0	0	0	0	0	0	0	1	5968	535	19	1		1	FLNC	7	128489530	Silent	SNP	C	TCGA-FG-6688-01A-11D-1893-08	27809937	128489530	30649133	32	24538											
TSPAN33	340348	broad.mit.edu	37	7	128802337	128802337	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr7:128802337G>A	ENST00000289407.4	+	3	372	c.263G>A	c.(262-264)cGc>cAc	p.R88H		NM_178562.3	NP_848657.1	Q86UF1	TSN33_HUMAN	tetraspanin 33	88						integral to membrane				NS(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	14						GGGTCCCTCCGCGAGAACATC	0.627													6	47					0	0	0.00308	0	0	A	128802337	G	A	128802337	3	1	190	1	0	0	0	0	1	0	0	0	16709	1087	38	1	273	1	TSPAN33	7	128802337	Missense_Mutation	SNP	G	TCGA-FG-6688-01A-11D-1893-08	312807	128802337	30336326	33	24539											
DENND3	22898	broad.mit.edu	37	8	142176321	142176321	+	Missense_Mutation	SNP	C	C	G			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr8:142176321C>G	ENST00000519811.1	+	12	1656	c.1586C>G	c.(1585-1587)cCg>cGg	p.P529R	DENND3_ENST00000262585.2_Missense_Mutation_p.P449R|DENND3_ENST00000424248.1_Missense_Mutation_p.P397R			A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	449								p.P449L(1)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			CCAAGGAGACCGACCGTTGAG	0.483													6	257					0	0	0.001168	0	0	G	142176321	C	G	142176321	3	3	190	1	0	0	0	0	1	0	0	0	4460	652	23	5	1388	5	DENND3	8	142176321	Missense_Mutation	SNP	C	TCGA-FG-6688-01A-11D-1893-08		142176321	4187701	34	24540											
TLN1	7094	broad.mit.edu	37	9	35717307	35717307	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr9:35717307C>T	ENST00000314888.9	-	19	2647	c.2294G>A	c.(2293-2295)cGa>cAa	p.R765Q	TLN1_ENST00000540444.1_Missense_Mutation_p.R765Q	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	765					axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			TCCTACCCCTCGCAACAGTTG	0.617													29	108					0	0	0.002096	0	0	T	35717307	C	T	35717307	3	4	190	1	0	0	0	0	1	0	0	0	16007	884	31	1	5487	1	TLN1	9	35717307	Missense_Mutation	SNP	C	TCGA-FG-6688-01A-11D-1893-08		35717307	105496124	35	24541											
ANXA1	301	broad.mit.edu	37	9	75783993	75783993	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr9:75783993C>T	ENST00000376911.1	+	11	1789	c.907C>T	c.(907-909)Cgt>Tgt	p.R303C	ANXA1_ENST00000257497.6_Missense_Mutation_p.R303C|ANXA1_ENST00000491192.1_3'UTR			P04083	ANXA1_HUMAN	annexin A1	303					alpha-beta T cell differentiation|anti-apoptosis|cell surface receptor linked signaling pathway|cellular component movement|inflammatory response|keratinocyte differentiation|lipid metabolic process|peptide cross-linking|positive regulation of vesicle fusion	basolateral plasma membrane|cilium|cornified envelope|cytoplasm|extracellular region|nucleus	calcium ion binding|calcium-dependent phospholipid binding|phospholipase A2 inhibitor activity|protein binding, bridging|receptor binding|structural molecule activity	p.R303S(1)		breast(1)|central_nervous_system(1)|large_intestine(1)|lung(5)	8		all_epithelial(88;2.54e-11)		OV - Ovarian serous cystadenocarcinoma(323;2.82e-06)|GBM - Glioblastoma multiforme(74;0.0325)	Alclometasone(DB00240)|Amcinonide(DB00288)|Beclomethasone(DB00394)|Betamethasone(DB00443)|Clobetasol(DB01013)|Clocortolone(DB00838)|Desonide(DB01260)|Desoximetasone(DB00547)|Dexamethasone(DB01234)|Diflorasone(DB00223)|Flumethasone Pivalate(DB00663)|Halobetasol Propionate(DB00596)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Loteprednol Etabonate(DB00873)|Methylprednisolone(DB00959)|Mometasone(DB00764)|Prednicarbate(DB01130)|Prednisone(DB00635)|Rimexolone(DB00896)|Triamcinolone(DB00620)	TATGGTTTCCCGTTCTGAAAT	0.388													29	126					0	0	0.00632	0	0	T	75783993	C	T	75783993	3	4	190	1	0	0	0	0	1	0	0	0	708	652	23	1	949	1	ANXA1	9	75783993	Missense_Mutation	SNP	C	TCGA-FG-6688-01A-11D-1893-08	40066686	75783993	65429438	36	24542											
NIPSNAP3A	25934	broad.mit.edu	37	9	107513272	107513272	+	Silent	SNP	C	C	T	rs146388542	byFrequency	TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr9:107513272C>T	ENST00000374767.4	+	2	201	c.96C>T	c.(94-96)taC>taT	p.Y32Y		NM_015469.1	NP_056284.1			nipsnap homolog 3A (C. elegans)											autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(1)|stomach(1)|upper_aerodigestive_tract(1)	8						CCAGACAATACGATGGAATAT	0.363													15	90					0	0	0.00245	0	0	T	107513272	C	T	107513272	2	4	190	1	0	0	0	0	0	0	0	1	10477	547	19	1		1	NIPSNAP3A	9	107513272	Silent	SNP	C	TCGA-FG-6688-01A-11D-1893-08	31729279	107513272	33700159	37	24543											
NRAP	4892	broad.mit.edu	37	10	115401191	115401191	+	Missense_Mutation	SNP	C	C	T	rs138124439		TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr10:115401191C>T	ENST00000369358.4	-	13	1500	c.1256G>A	c.(1255-1257)cGc>cAc	p.R419H	NRAP_ENST00000360478.3_Missense_Mutation_p.R384H|NRAP_ENST00000359988.3_Missense_Mutation_p.R419H|NRAP_ENST00000369360.3_Missense_Mutation_p.R384H			Q86VF7	NRAP_HUMAN	nebulin-related anchoring protein	419						fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		TCCTTCATAGCGGCCTCTCAT	0.438													25	93					0	0	0.005443	0	0	T	115401191	C	T	115401191	3	4	190	1	0	0	0	0	1	0	0	0	10686	768	27	1	4056	1	NRAP	10	115401191	Missense_Mutation	SNP	C	TCGA-FG-6688-01A-11D-1893-08		115401191	20133556	38	24544											
PHF21A	51317	broad.mit.edu	37	11	46098353	46098356	+	Frame_Shift_Del	DEL	TTTC	TTTC	-			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr11:46098353_46098356delTTTC	ENST00000257821.4	-	5	725_728	c.102_105delGAAA	c.(100-105)aagaaafs	p.KK34fs	PHF21A_ENST00000418153.2_Frame_Shift_Del_p.KK34fs|PHF21A_ENST00000323180.6_Frame_Shift_Del_p.KK34fs	NM_001101802.1	NP_001095272.1	Q96BD5	PF21A_HUMAN	PHD finger protein 21A	34	Gln-rich.				blood coagulation|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|transcription, DNA-dependent	histone deacetylase complex	DNA binding|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(10)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	29						CATGAAGCTGTTTCTTTAAGTCAG	0.368													10	82	---	---	---	---						-	46098356	TTTC	-	46098353	7	5	190	1	0	1	0	1	0	0	0	0	11881	1722	60	0	2023	0	PHF21A	11	46098353	Frame_Shift_Del	DEL	TTTC	TCGA-FG-6688-01A-11D-1893-08		46098353	88908163	39	24545											
PRSS23	11098	broad.mit.edu	37	11	86519582	86519582	+	Missense_Mutation	SNP	C	C	A	rs150416218		TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr11:86519582C>A	ENST00000280258.5	+	2	1322	c.897C>A	c.(895-897)gaC>gaA	p.D299E	PRSS23_ENST00000441050.1_Missense_Mutation_p.D267E|PRSS23_ENST00000533902.2_Intron	NM_007173.4	NP_009104.1	O95084	PRS23_HUMAN	protease, serine, 23	299					proteolysis	extracellular region|nucleus	serine-type endopeptidase activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(9)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	18		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				ACGTCAAAGACGAGACCTATG	0.557													15	114					3.52763e-06	4.63002e-06	0.00499	1	0	A	86519582	C	A	86519582	3	1	190	1	0	0	0	0	1	0	0	0	12669	535	19	5	899	5	PRSS23	11	86519582	Missense_Mutation	SNP	C	TCGA-FG-6688-01A-11D-1893-08	40421229	86519582	48486934	40	24546											
APOA4	337	broad.mit.edu	37	11	116691938	116691938	+	Missense_Mutation	SNP	C	C	T	rs1042372		TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr11:116691938C>T	ENST00000357780.3	-	3	950	c.836G>A	c.(835-837)aGg>aAg	p.R279K		NM_000482.3	NP_000473.2			apolipoprotein A-IV											cervix(1)|endometrium(2)|lung(10)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	20	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148)		GGTGTTGCCCCTCAGGTTGCC	0.677													6	118					0	0	0.001168	0	0	T	116691938	C	T	116691938	3	4	190	1	0	0	0	0	1	0	0	0	780	681	24	2	358	2	APOA4	11	116691938	Missense_Mutation	SNP	C	TCGA-FG-6688-01A-11D-1893-08	30172356	116691938	18314578	41	24547											
TMEM225	338661	broad.mit.edu	37	11	123753867	123753867	+	Missense_Mutation	SNP	C	C	T	rs114749572	byFrequency	TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr11:123753867C>T	ENST00000375026.2	-	4	872	c.656G>A	c.(655-657)cGt>cAt	p.R219H		NM_001013743.1	NP_001013765.1	Q6GV28	TM225_HUMAN	transmembrane protein 225	219						integral to membrane				endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	28						GGTTACGTGACGTGTTTGGAC	0.418													8	93					0	0	0.006214	0	0	T	123753867	C	T	123753867	3	4	190	1	0	0	0	0	1	0	0	0	16207	536	19	1	25	1	TMEM225	11	123753867	Missense_Mutation	SNP	C	TCGA-FG-6688-01A-11D-1893-08	7061929	123753867	11252649	42	24548											
ADAMTS15	170689	broad.mit.edu	37	11	130341228	130341228	+	Silent	SNP	G	G	A			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr11:130341228G>A	ENST00000299164.2	+	7	2028	c.2028G>A	c.(2026-2028)ggG>ggA	p.G676G		NM_139055.2	NP_620686.1	Q8TE58	ATS15_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 15	676	Cys-rich.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1)	36	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)		GGGTGTGTGGGGGAGACAATA	0.572													12	69					0	0	0.00245	0	0	A	130341228	G	A	130341228	2	1	190	1	0	0	0	0	0	0	0	1	259	1219	43	2		2	ADAMTS15	11	130341228	Silent	SNP	G	TCGA-FG-6688-01A-11D-1893-08	6587361	130341228	4665288	43	24549											
CHD4	1108	broad.mit.edu	37	12	6702730	6702730	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr12:6702730T>C	ENST00000309577.6	-	16	2529	c.2366A>G	c.(2365-2367)aAc>aGc	p.N789S	CHD4_ENST00000544484.1_Missense_Mutation_p.N786S|CHD4_ENST00000544040.1_Missense_Mutation_p.N782S|CHD4_ENST00000357008.2_Missense_Mutation_p.N789S			Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	789	Helicase ATP-binding.				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2						CCGCTCCCAGTTGATGATGGT	0.532													29	147					0	0	0.005443	0	0	C	6702730	T	C	6702730	3	2	190	1	0	0	0	0	1	0	0	0	3349	1725	60	3	3472	3	CHD4	12	6702730	Missense_Mutation	SNP	T	TCGA-FG-6688-01A-11D-1893-08		6702730	127149165	44	24550											
CLEC4C	170482	broad.mit.edu	37	12	7883393	7883393	+	Splice_Site	SNP	G	G	A			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr12:7883393G>A	ENST00000542353.1	-	6	987	c.497C>T	c.(496-498)aCa>aTa	p.T166I	CLEC4C_ENST00000540085.1_Splice_Site_p.T135I|CLEC4C_ENST00000354629.5_Splice_Site_p.T135I|CLEC4C_ENST00000360345.3_Splice_Site_p.T166I	NM_130441.2	NP_569708.1	Q8WTT0	CLC4C_HUMAN	C-type lectin domain family 4, member C	166	C-type lectin.				innate immune response	integral to membrane	sugar binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				Kidney(36;0.0915)		CTATACTCACGTGACATTTTC	0.433													18	99					0	0	0.001523	0	0	A	7883393	G	A	7883393	5	1	190	1	0	0	0	0	0	0	1	0	3536	1159	40	1	152	1	CLEC4C	12	7883393	Splice_Site	SNP	G	TCGA-FG-6688-01A-11D-1893-08	1180663	7883393	125968502	45	24551											
PIP4K2C	79837	broad.mit.edu	37	12	57989740	57989740	+	Missense_Mutation	SNP	C	C	T	rs144510690		TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr12:57989740C>T	ENST00000354947.5	+	4	455	c.439C>T	c.(439-441)Cgg>Tgg	p.R147W	PIP4K2C_ENST00000540759.2_Missense_Mutation_p.R147W|PIP4K2C_ENST00000422156.3_Intron|PIP4K2C_ENST00000550465.1_Missense_Mutation_p.R129W			Q8TBX8	PI42C_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type II, gamma	147	PIPK.					cytoplasm|membrane	1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding|identical protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(13)|pancreas(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	33	Melanoma(17;0.122)					CTCCTACGATCGGACTCTGGT	0.522													25	111					0	0	0.003954	0	0	T	57989740	C	T	57989740	3	4	190	1	0	0	0	0	1	0	0	0	11986	875	31	1	453	1	PIP4K2C	12	57989740	Missense_Mutation	SNP	C	TCGA-FG-6688-01A-11D-1893-08	50106347	57989740	75862155	46	24552											
UTP20	27340	broad.mit.edu	37	12	101750464	101750464	+	Missense_Mutation	SNP	C	C	G			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr12:101750464C>G	ENST00000261637.4	+	42	5701	c.5527C>G	c.(5527-5529)Ctg>Gtg	p.L1843V		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	1843					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						GGAAGCTAATCTGCCAAGGTA	0.363													3	26					0	0	0.000248	0	0	G	101750464	C	G	101750464	3	3	190	1	0	0	0	0	1	0	0	0	17159	912	32	4	5693	4	UTP20	12	101750464	Missense_Mutation	SNP	C	TCGA-FG-6688-01A-11D-1893-08	43760724	101750464	32101431	47	24553											
ACACB	32	broad.mit.edu	37	12	109625810	109625810	+	Missense_Mutation	SNP	A	A	G			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr12:109625810A>G	ENST00000338432.7	+	13	2106	c.1987A>G	c.(1987-1989)Aag>Gag	p.K663E	ACACB_ENST00000377854.5_Missense_Mutation_p.K663E|ACACB_ENST00000377848.3_Missense_Mutation_p.K663E			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	663	Biotin carboxylation.				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	CCAGGGTTTTAAGCCGAGCTC	0.498													3	82					0	0	0.004672	0	0	G	109625810	A	G	109625810	3	3	190	1	0	0	0	0	1	0	0	0	107	363	13	3	2033	3	ACACB	12	109625810	Missense_Mutation	SNP	A	TCGA-FG-6688-01A-11D-1893-08	7875346	109625810	24226085	48	24554											
CRYL1	51084	broad.mit.edu	37	13	21013857	21013859	+	In_Frame_Del	DEL	TCT	TCT	-			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr13:21013857_21013859delTCT	ENST00000382812.1	-	5	473_475	c.245_247delAGA	c.(244-249)aagatt>att	p.K82del	CRYL1_ENST00000480748.1_5'UTR|CRYL1_ENST00000298248.7_In_Frame_Del_p.K104del			Q9Y2S2	CRYL1_HUMAN	crystallin, lambda 1	104					fatty acid metabolic process	cytosol	3-hydroxyacyl-CoA dehydrogenase activity|L-gulonate 3-dehydrogenase activity|NAD+ binding|protein homodimerization activity			NS(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	14		all_cancers(29;2.27e-23)|all_epithelial(30;1.69e-19)|all_lung(29;8.29e-18)|Lung SC(185;0.0262)|Ovarian(182;0.0827)|Hepatocellular(188;0.244)		all cancers(112;6.6e-05)|Epithelial(112;0.00178)|OV - Ovarian serous cystadenocarcinoma(117;0.0169)|Lung(94;0.0215)|GBM - Glioblastoma multiforme(144;0.0402)|LUSC - Lung squamous cell carcinoma(192;0.061)		TGAGCAAAAATCTTCTTCTTCAG	0.419													12	67	---	---	---	---						-	21013859	TCT	-	21013857	7	5	190	1	0	1	0	1	0	0	0	0	3943	1435	50	0	666	0	CRYL1	13	21013857	In_Frame_Del	DEL	TCT	TCGA-FG-6688-01A-11D-1893-08		21013857	94156021	49	24555											
CENPJ	55835	broad.mit.edu	37	13	25479612	25479612	+	Missense_Mutation	SNP	C	C	G			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr13:25479612C>G	ENST00000381884.4	-	7	2749	c.2564G>C	c.(2563-2565)aGg>aCg	p.R855T	CENPJ_ENST00000545981.1_Missense_Mutation_p.R855T	NM_018451.4	NP_060921.3	Q9HC77	CENPJ_HUMAN	centromere protein J	855					cell division|centriole replication|G2/M transition of mitotic cell cycle|microtubule nucleation|microtubule polymerization	centriole|cytosol|gamma-tubulin small complex|microtubule	protein domain specific binding|tubulin binding			endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)		TCTGCTCCTCCTGGACTTGCT	0.428													11	67					0	0	0.008291	0	0	G	25479612	C	G	25479612	3	3	190	1	0	0	0	0	1	0	0	0	3256	681	24	4	1496	4	CENPJ	13	25479612	Missense_Mutation	SNP	C	TCGA-FG-6688-01A-11D-1893-08	4465755	25479612	89690266	50	24556											
RB1	5925	broad.mit.edu	37	13	48955530	48955533	+	Frame_Shift_Del	DEL	ATTT	ATTT	-			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr13:48955530_48955533delATTT	ENST00000267163.4	+	17	1784_1787	c.1646_1649delATTT	c.(1645-1650)catttafs	p.HL549fs		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	549	Domain A.|Pocket; binds T and E1A.		H -> Y (in RB).		androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.0?(15)|p.?(8)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	ATGATAAAACATTTAGAACGATGT	0.328		6	"D, Mis, N, F, S"		"retinoblastoma, sarcoma, breast, small cell lung"	"retinoblastoma, sarcoma, breast, small cell lung"			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			9	36	---	---	---	---						-	48955533	ATTT	-	48955530	7	5	190	1	0	1	0	1	0	0	0	0	13150	217	8	0	1712	0	RB1	13	48955530	Frame_Shift_Del	DEL	ATTT	TCGA-FG-6688-01A-11D-1893-08	23475918	48955530	66214348	51	24557											
CLEC14A	161198	broad.mit.edu	37	14	38724284	38724284	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr14:38724284G>A	ENST00000342213.2	-	1	1290	c.944C>T	c.(943-945)cCg>cTg	p.P315L		NM_175060.2	NP_778230.1	Q86T13	CLC14_HUMAN	C-type lectin domain family 14, member A	315						integral to membrane	sugar binding			breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)		TGTTCTCTGCGGCACGGGGCT	0.617													21	123					0	0	0.00278	0	0	A	38724284	G	A	38724284	3	1	190	1	0	0	0	0	1	0	0	0	3522	1116	39	1	532	1	CLEC14A	14	38724284	Missense_Mutation	SNP	G	TCGA-FG-6688-01A-11D-1893-08		38724284	68625256	52	24558											
LRFN5	145581	broad.mit.edu	37	14	42355895	42355895	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr14:42355895C>T	ENST00000554171.1	+	5	2499	c.67C>T	c.(67-69)Cgt>Tgt	p.R23C	LRFN5_ENST00000554120.1_Missense_Mutation_p.R23C|LRFN5_ENST00000298119.4_Missense_Mutation_p.R23C			Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	23	LRRNT.					integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		CTGTCCAAAGCGTTGTGTCTG	0.398										HNSCC(30;0.082)			5	35					0	0	0.001168	0	0	T	42355895	C	T	42355895	3	4	190	1	0	0	0	0	1	0	0	0	8986	768	27	1	69	1	LRFN5	14	42355895	Missense_Mutation	SNP	C	TCGA-FG-6688-01A-11D-1893-08	3631611	42355895	64993645	53	24559											
RTN1	6252	broad.mit.edu	37	14	60212786	60212786	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr14:60212786C>T	ENST00000267484.5	-	2	990	c.655G>A	c.(655-657)Gac>Aac	p.D219N		NM_021136.2	NP_066959.1	Q16799	RTN1_HUMAN	reticulon 1	219					neuron differentiation	integral to endoplasmic reticulum membrane	signal transducer activity			central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		AAGTCCAAGTCTTTATCTTCC	0.448													44	218					0	0	0.002222	0	0	T	60212786	C	T	60212786	3	4	190	1	0	0	0	0	1	0	0	0	13777	913	32	2	1772	2	RTN1	14	60212786	Missense_Mutation	SNP	C	TCGA-FG-6688-01A-11D-1893-08	17856891	60212786	47136754	54	24560											
ZNF770	54989	broad.mit.edu	37	15	35274299	35274299	+	Nonsense_Mutation	SNP	G	G	C			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr15:35274299G>C	ENST00000356321.4	-	3	1681	c.1337C>G	c.(1336-1338)tCa>tGa	p.S446*		NM_014106.3	NP_054825.2	Q6IQ21	ZN770_HUMAN	zinc finger protein 770	446					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)	29		Lung NSC(122;4.59e-10)|all_lung(180;8.78e-09)		all cancers(64;1.97e-18)|GBM - Glioblastoma multiforme(113;2.11e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0643)		TTCCTCACCTGATGAACCACA	0.343													12	67					0	0	0.001368	0	0	C	35274299	G	C	35274299	4	2	190	1	0	0	0	0	0	1	0	0	18193	1294	45	5	742	5	ZNF770	15	35274299	Nonsense_Mutation	SNP	G	TCGA-FG-6688-01A-11D-1893-08		35274299	67257093	55	24561											
DUOX2	50506	broad.mit.edu	37	15	45389890	45389890	+	Silent	SNP	G	G	A			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr15:45389890G>A	ENST00000389039.6	-	28	4000	c.3615C>T	c.(3613-3615)ttC>ttT	p.F1205F	DUOX2_ENST00000603300.1_Silent_p.F1205F			Q9NRD8	DUOX2_HUMAN	dual oxidase 2	1205	Ferric oxidoreductase.|Interaction with TXNDC11 (By similarity).				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		GGTGGGAGGCGAAGACATACA	0.617													28	83					0	0	0.007291	0	0	A	45389890	G	A	45389890	2	1	190	1	0	0	0	0	0	0	0	1	4827	1049	37	1		1	DUOX2	15	45389890	Silent	SNP	G	TCGA-FG-6688-01A-11D-1893-08	10115591	45389890	57141502	56	24562											
SLC28A1	9154	broad.mit.edu	37	15	85467219	85467219	+	Missense_Mutation	SNP	G	G	A	rs150926643		TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr15:85467219G>A	ENST00000394573.1	+	12	1163	c.961G>A	c.(961-963)Gag>Aag	p.E321K	SLC28A1_ENST00000537624.1_Missense_Mutation_p.E321K|SLC28A1_ENST00000286749.3_Missense_Mutation_p.E321K|SLC28A1_ENST00000537703.1_Missense_Mutation_p.E243K|SLC28A1_ENST00000538177.1_Missense_Mutation_p.E321K|SLC28A1_ENST00000537216.1_Missense_Mutation_p.E321K	NM_004213.3	NP_004204.3	O00337	S28A1_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 1	321					nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding	p.E321K(1)		breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	41			BRCA - Breast invasive adenocarcinoma(143;0.0587)			TTTGCAGACCGAGGCTCCATT	0.567													9	57					0	0	0.004482	0	0	A	85467219	G	A	85467219	3	1	190	1	0	0	0	0	1	0	0	0	14586	1059	37	1	1070	1	SLC28A1	15	85467219	Missense_Mutation	SNP	G	TCGA-FG-6688-01A-11D-1893-08	40077329	85467219	17064173	57	24563											
MCTP2	55784	broad.mit.edu	37	15	94943169	94943169	+	Missense_Mutation	SNP	C	C	G			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr15:94943169C>G	ENST00000357742.4	+	15	1910	c.1910C>G	c.(1909-1911)aCt>aGt	p.T637S	MCTP2_ENST00000557742.1_Missense_Mutation_p.T225S|MCTP2_ENST00000451018.3_Missense_Mutation_p.T637S|MCTP2_ENST00000331706.4_Missense_Mutation_p.T225S	NM_018349.3	NP_060819.3	Q6DN12	MCTP2_HUMAN	multiple C2 domains, transmembrane 2	637					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			AGTATTAGGACTTTTACTCCC	0.448													21	125					0	0	0.002299	0	0	G	94943169	C	G	94943169	3	3	190	1	0	0	0	0	1	0	0	0	9451	565	20	4	1968	4	MCTP2	15	94943169	Missense_Mutation	SNP	C	TCGA-FG-6688-01A-11D-1893-08	9475950	94943169	7588223	58	24564											
SNX29	92017	broad.mit.edu	37	16	12571690	12571690	+	Missense_Mutation	SNP	C	C	G			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr16:12571690C>G	ENST00000566228.1	+	19	2221	c.2152C>G	c.(2152-2154)Cca>Gca	p.P718A	SNX29_ENST00000323433.4_Missense_Mutation_p.P333A|SNX29_ENST00000306030.3_Missense_Mutation_p.P333A	NM_032167.3	NP_115543.3	Q8TEQ0	SNX29_HUMAN	sorting nexin 29	333					cell communication		phosphatidylinositol binding			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	7						CTACAACTTCCCACCCAAAAA	0.438													6	36					0	0	0.001984	0	0	G	12571690	C	G	12571690	3	3	190	1	0	0	0	0	1	0	0	0	14952	623	22	5	1039	5	SNX29	16	12571690	Missense_Mutation	SNP	C	TCGA-FG-6688-01A-11D-1893-08		12571690	77783063	59	24565											
ACSM2A	123876	broad.mit.edu	37	16	20477031	20477031	+	Silent	SNP	C	C	T			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr16:20477031C>T	ENST00000573854.1	+	3	484	c.370C>T	c.(370-372)Ctg>Ttg	p.L124L	ACSM2A_ENST00000396104.2_Silent_p.L124L|ACSM2A_ENST00000417235.2_Silent_p.L45L|ACSM2A_ENST00000536134.1_5'UTR|ACSM2A_ENST00000424070.1_Silent_p.L124L|ACSM2A_ENST00000219054.6_Silent_p.L124L|ACSM2A_ENST00000575558.1_3'UTR|ACSM2A_ENST00000575690.1_Silent_p.L124L	NM_001010845.2	NP_001010845	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A	124					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						GCTGGTGATCCTGGGCTGCAT	0.582													5	45					0	0	0.001168	0	0	T	20477031	C	T	20477031	2	4	190	1	0	0	0	0	0	0	0	1	183	680	24	2		2	ACSM2A	16	20477031	Silent	SNP	C	TCGA-FG-6688-01A-11D-1893-08	7905341	20477031	69877722	60	24566											
ADCY7	113	broad.mit.edu	37	16	50347883	50347883	+	Silent	SNP	C	C	G			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr16:50347883C>G	ENST00000394697.2	+	23	3106	c.2766C>G	c.(2764-2766)ccC>ccG	p.P922P	ADCY7_ENST00000254235.3_Silent_p.P922P			P51828	ADCY7_HUMAN	adenylate cyclase 7	922	Guanylate cyclase 2.				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to ethanol|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of cAMP biosynthetic process|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	35		all_cancers(37;0.0127)		GBM - Glioblastoma multiforme(240;0.195)	Bromocriptine(DB01200)	TACTGAAGCCCAAGTTCAGCG	0.617													14	73					0	0	0.00245	0	0	G	50347883	C	G	50347883	2	3	190	1	0	0	0	0	0	0	0	1	298	581	21	5		5	ADCY7	16	50347883	Silent	SNP	C	TCGA-FG-6688-01A-11D-1893-08	29870852	50347883	40006870	61	24567											
IRX6	79190	broad.mit.edu	37	16	55361633	55361633	+	Silent	SNP	C	C	G			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr16:55361633C>G	ENST00000290552.7	+	4	1881	c.549C>G	c.(547-549)gcC>gcG	p.A183A	IRX6_ENST00000558315.1_3'UTR|RP11-26L20.3_ENST00000558730.2_RNA	NM_024335.2	NP_077311.2	P78412	IRX6_HUMAN	iroquois homeobox 6	183						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33						TCATGCTGGCCATCATCACCA	0.572													21	103					0	0	0.001523	0	0	G	55361633	C	G	55361633	2	3	190	1	0	0	0	0	0	0	0	1	7892	581	21	5		5	IRX6	16	55361633	Silent	SNP	C	TCGA-FG-6688-01A-11D-1893-08	5013750	55361633	34993120	62	24568											
HYDIN	54768	broad.mit.edu	37	16	70902514	70902514	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr16:70902514C>T	ENST00000393567.2	-	66	11419	c.11269G>A	c.(11269-11271)Gta>Ata	p.V3757I		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	3757										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				TTTCTGGGTACGTCCACCCAC	0.527													5	42					0	0	0.001984	0	0	T	70902514	C	T	70902514	3	4	190	1	0	0	0	0	1	0	0	0	7511	536	19	1	4180	1	HYDIN	16	70902514	Missense_Mutation	SNP	C	TCGA-FG-6688-01A-11D-1893-08	15540881	70902514	19452239	63	24569											
ZNF276	92822	broad.mit.edu	37	16	89804475	89804475	+	Missense_Mutation	SNP	T	T	A			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr16:89804475T>A	ENST00000289816.5	+	11	1753	c.1441T>A	c.(1441-1443)Tgt>Agt	p.C481S	ZNF276_ENST00000568064.1_3'UTR|ZNF276_ENST00000446326.2_Missense_Mutation_p.C342S|FANCA_ENST00000389301.3_3'UTR|ZNF276_ENST00000443381.2_Missense_Mutation_p.C556S	NM_152287.3	NP_689500.2	Q8N554	ZN276_HUMAN	zinc finger protein 276	556					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)	14		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		GGACTTTGCCTGTGACCAGTG	0.597													11	44					0	0	0.008291	0	0	A	89804475	T	A	89804475	3	1	190	1	0	0	0	0	1	0	0	0	17869	1580	55	5	1708	5	ZNF276	16	89804475	Missense_Mutation	SNP	T	TCGA-FG-6688-01A-11D-1893-08	18901961	89804475	550278	64	24570											
USP6	9098	broad.mit.edu	37	17	5072170	5072170	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr17:5072170C>T	ENST00000574788.1	+	35	5567	c.3337C>T	c.(3337-3339)Cga>Tga	p.R1113*	USP6_ENST00000332776.4_3'UTR|USP6_ENST00000250066.6_Nonsense_Mutation_p.R1113*|USP6_ENST00000304328.5_Nonsense_Mutation_p.R796*			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6 (Tre-2 oncogene)	1113					protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						TTTGGTACCACGAGACCCGGC	0.473			T	"COL1A1, CDH11, ZNF9, OMD"	aneurysmal bone cysts								43	211					0	0	0.002852	0	0	T	5072170	C	T	5072170	4	4	190	1	0	0	0	0	0	1	0	0	17146	528	19	1	3439	1	USP6	17	5072170	Nonsense_Mutation	SNP	C	TCGA-FG-6688-01A-11D-1893-08		5072170	76123040	65	24571											
DLG4	1742	broad.mit.edu	37	17	7106755	7106755	+	Missense_Mutation	SNP	T	T	G			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr17:7106755T>G	ENST00000399510.2	-	8	1474	c.622A>C	c.(622-624)Aag>Cag	p.K208Q	DLG4_ENST00000302955.6_Missense_Mutation_p.K162Q|DLG4_ENST00000399506.2_Missense_Mutation_p.K165Q|DLG4_ENST00000485100.1_Missense_Mutation_p.K162Q	NM_001365.3	NP_001356.1	P78352	DLG4_HUMAN	discs, large homolog 4 (Drosophila)	165	PDZ 2.				axon guidance|learning|protein complex assembly|protein localization to synapse|signal transduction|synaptic transmission	cell junction|cortical cytoskeleton|endocytic vesicle membrane|neuron spine|postsynaptic density|postsynaptic membrane|synaptosome	protein binding|protein C-terminus binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)	18						TTAGGCCCCTTGATGAGCTTG	0.607													3	76					0	0	0.004672	0	0	G	7106755	T	G	7106755	3	3	190	1	0	0	0	0	1	0	0	0	4585	1821	63	5	1741	5	DLG4	17	7106755	Missense_Mutation	SNP	T	TCGA-FG-6688-01A-11D-1893-08	2034585	7106755	74088455	66	24572											
YBX2	51087	broad.mit.edu	37	17	7193769	7193769	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr17:7193769C>T	ENST00000007699.5	-	5	608	c.545G>A	c.(544-546)cGa>cAa	p.R182Q	YBX2_ENST00000570627.1_5'UTR	NM_015982.3	NP_057066.2	Q9Y2T7	YBOX2_HUMAN	Y box binding protein 2	182					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter|translational attenuation	cytoplasm|nucleus	DNA binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|skin(3)	12						GGGGATGAATCGGCGGGACTT	0.642													4	81					0	0	0.000602	0	0	T	7193769	C	T	7193769	3	4	190	1	0	0	0	0	1	0	0	0	17530	884	31	1	565	1	YBX2	17	7193769	Missense_Mutation	SNP	C	TCGA-FG-6688-01A-11D-1893-08	87014	7193769	74001441	67	24573											
NF1	4763	broad.mit.edu	37	17	29553568	29553568	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr17:29553568C>T	ENST00000358273.4	+	18	2500	c.2117C>T	c.(2116-2118)gCc>gTc	p.A706V	NF1_ENST00000356175.3_Missense_Mutation_p.A706V	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	706					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		GTTCTGGTTGCCATGTCCTGT	0.527			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			6	161					0	0	0.000978	0	0	T	29553568	C	T	29553568	3	4	190	1	0	0	0	0	1	0	0	0	10403	739	26	2	2248	2	NF1	17	29553568	Missense_Mutation	SNP	C	TCGA-FG-6688-01A-11D-1893-08	22359799	29553568	51641642	68	24574											
MYO1D	4642	broad.mit.edu	37	17	31107759	31107759	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr17:31107759C>T	ENST00000318217.5	-	2	443	c.139G>A	c.(139-141)Gtt>Att	p.V47I	MYO1D_ENST00000394649.4_5'UTR|MYO1D_ENST00000579584.1_Missense_Mutation_p.V47I|MYO1D_ENST00000583621.1_Missense_Mutation_p.V47I	NM_015194.1	NP_056009.1	O94832	MYO1D_HUMAN	myosin ID	47	Myosin head-like.					myosin complex	actin binding|ATP binding|calmodulin binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			BRCA - Breast invasive adenocarcinoma(9;0.0362)			TTCACAGAAACGACGACTTCT	0.423													10	50					0	0	0.008291	0	0	T	31107759	C	T	31107759	3	4	190	1	0	0	0	0	1	0	0	0	10119	536	19	1	2965	1	MYO1D	17	31107759	Missense_Mutation	SNP	C	TCGA-FG-6688-01A-11D-1893-08	1554191	31107759	50087451	69	24575											
CUEDC1	404093	broad.mit.edu	37	17	55946527	55946527	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr17:55946527G>A	ENST00000577830.1	-	7	1309	c.896C>T	c.(895-897)tCt>tTt	p.S299F	CUEDC1_ENST00000360238.2_Missense_Mutation_p.S299F|CUEDC1_ENST00000577840.1_Missense_Mutation_p.S162F|CUEDC1_ENST00000578357.1_5'UTR|CUEDC1_ENST00000407144.2_Missense_Mutation_p.S299F	NM_001271875.1	NP_001258804.1	Q9NWM3	CUED1_HUMAN	CUE domain containing 1	299										endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(3)	12						GGCATCTTCAGACACAGCGGG	0.617													6	30					0	0	0.001984	0	0	A	55946527	G	A	55946527	3	1	190	1	0	0	0	0	1	0	0	0	4075	942	33	2	280	2	CUEDC1	17	55946527	Missense_Mutation	SNP	G	TCGA-FG-6688-01A-11D-1893-08	24838768	55946527	25248683	70	24576											
CYP4F3	4051	broad.mit.edu	37	19	15763404	15763404	+	Missense_Mutation	SNP	A	A	T			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr19:15763404A>T	ENST00000221307.8	+	8	991	c.944A>T	c.(943-945)gAt>gTt	p.D315V	CYP4F3_ENST00000586182.2_Missense_Mutation_p.D315V|CYP4F3_ENST00000585846.1_Missense_Mutation_p.D315V|CYP4F3_ENST00000591058.1_Missense_Mutation_p.D315V	NM_000896.2	NP_000887.2	Q08477	CP4F3_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 3						leukotriene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding			endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1)	34						AAGTTGTCCGATGAGGACATA	0.522													9	260					0	0	0.008291	0	0	T	15763404	A	T	15763404	3	4	190	1	0	0	0	0	1	0	0	0	4213	333	12	4	970	4	CYP4F3	19	15763404	Missense_Mutation	SNP	A	TCGA-FG-6688-01A-11D-1893-08		15763404	43365579	71	24577											
TSHZ2	128553	broad.mit.edu	37	20	51872726	51872726	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr20:51872726C>T	ENST00000371497.5	+	2	3616	c.2729C>T	c.(2728-2730)aCg>aTg	p.T910M	TSHZ2_ENST00000603338.2_Missense_Mutation_p.T907M|RP4-678D15.1_ENST00000606932.1_RNA|TSHZ2_ENST00000329613.6_Missense_Mutation_p.T907M	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	910					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			CTTAGGAAAACGGGCGGGACA	0.488													7	65					0	0	0.004482	0	0	T	51872726	C	T	51872726	3	4	190	1	0	0	0	0	1	0	0	0	16685	536	19	1	2735	1	TSHZ2	20	51872726	Missense_Mutation	SNP	C	TCGA-FG-6688-01A-11D-1893-08		51872726	11152794	72	24578											
GRPR	2925	broad.mit.edu	37	X	16168588	16168588	+	Missense_Mutation	SNP	A	A	G			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chrX:16168588A>G	ENST00000380289.2	+	2	972	c.574A>G	c.(574-576)Acc>Gcc	p.T192A		NM_005314.2	NP_005305.1	P30550	GRPR_HUMAN	gastrin-releasing peptide receptor	192					cell proliferation	integral to plasma membrane	bombesin receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(3)|stomach(1)|upper_aerodigestive_tract(3)	25	Hepatocellular(33;0.183)					CACCAACCAGACCTTCATTAG	0.502													35	141					0	0	0.00623	0	0	G	16168588	A	G	16168588	3	3	190	1	0	0	0	0	1	0	0	0	6849	275	10	3	580	3	GRPR	23	16168588	Missense_Mutation	SNP	A	TCGA-FG-6688-01A-11D-1893-08		16168588	139101972	73	24579											
IL1RAPL1	11141	broad.mit.edu	37	X	29972757	29972757	+	Missense_Mutation	SNP	G	G	T			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chrX:29972757G>T	ENST00000378993.1	+	10	1993	c.1320G>T	c.(1318-1320)aaG>aaT	p.K440N	IL1RAPL1_ENST00000302196.4_Missense_Mutation_p.K440N	NM_014271.3	NP_055086.1	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	440	TIR.				innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity	p.K440K(1)		biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						TGCTTGAAAAGCATTATGGAT	0.373													14	74					0.00316338	0.00402612	0.003163	1	0	T	29972757	G	T	29972757	3	4	190	1	0	0	0	0	1	0	0	0	7705	962	34	4	1354	4	IL1RAPL1	23	29972757	Missense_Mutation	SNP	G	TCGA-FG-6688-01A-11D-1893-08	13804169	29972757	125297803	74	24580											
TMEM47	83604	broad.mit.edu	37	X	34648526	34648526	+	Missense_Mutation	SNP	G	G	T			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chrX:34648526G>T	ENST00000275954.3	-	3	708	c.450C>A	c.(448-450)aaC>aaA	p.N150K		NM_031442.3	NP_113630.1	Q9BQJ4	TMM47_HUMAN	transmembrane protein 47	150						integral to membrane				breast(1)|kidney(1)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						CATAACCCCAGTTGAACTCAT	0.428													21	115					3.62473e-10	4.91093e-10	0.001882	1	0	T	34648526	G	T	34648526	3	4	190	1	0	0	0	0	1	0	0	0	16231	1020	36	4	99	4	TMEM47	23	34648526	Missense_Mutation	SNP	G	TCGA-FG-6688-01A-11D-1893-08	4675769	34648526	120622034	75	24581											
FAM47B	170062	broad.mit.edu	37	X	34962764	34962764	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chrX:34962764G>A	ENST00000329357.5	+	1	1852	c.1816G>A	c.(1816-1818)Gtc>Atc	p.V606I		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	606								p.V606I(1)		breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						AATGCCTGGCGTCATTGAAAA	0.438													51	233					0	0	0.00361	0	0	A	34962764	G	A	34962764	3	1	190	1	0	0	0	0	1	0	0	0	5606	1145	40	1	1818	1	FAM47B	23	34962764	Missense_Mutation	SNP	G	TCGA-FG-6688-01A-11D-1893-08	314238	34962764	120307796	76	24582											
MAGEE2	139599	broad.mit.edu	37	X	75003755	75003755	+	Missense_Mutation	SNP	A	A	C			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chrX:75003755A>C	ENST00000373359.2	-	1	1324	c.1132T>G	c.(1132-1134)Tac>Gac	p.Y378D		NM_138703.4	NP_619648.1	Q8TD90	MAGE2_HUMAN	melanoma antigen family E, 2	378	MAGE 2.									autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						ACAAGGAGGTAGATGTGCTCA	0.433													24	157					0	0	0.002299	0	0	C	75003755	A	C	75003755	3	2	190	1	0	0	0	0	1	0	0	0	9236	420	15	5	443	5	MAGEE2	23	75003755	Missense_Mutation	SNP	A	TCGA-FG-6688-01A-11D-1893-08	40040991	75003755	80266805	77	24583											
PLXNA3	55558	broad.mit.edu	37	X	153698493	153698493	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chrX:153698493C>T	ENST00000369682.3	+	29	5144	c.4969C>T	c.(4969-4971)Cgg>Tgg	p.R1657W	PLXNA3_ENST00000493546.1_3'UTR	NM_017514.3	NP_059984.3	P51805	PLXA3_HUMAN	plexin A3	1657					axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CTACCTGACACGGCTGCTGGC	0.617													9	48					0	0	0.006214	0	0	T	153698493	C	T	153698493	3	4	190	1	0	0	0	0	1	0	0	0	12169	527	19	1	5079	1	PLXNA3	23	153698493	Missense_Mutation	SNP	C	TCGA-FG-6688-01A-11D-1893-08	78694738	153698493	1572067	78	24584											
F8	2157	broad.mit.edu	37	X	154159063	154159063	+	Frame_Shift_Del	DEL	G	G	-			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chrX:154159063delG	ENST00000360256.4	-	14	3202	c.3002delC	c.(3001-3003)gctfs	p.A1001fs		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	1001	B.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	AGTCAACAAAGCAGGTCCATG	0.343													26	135	---	---	---	---						-	154159063	G	-	154159063	7	5	190	1	0	1	0	1	0	0	0	0	5378	971	34	0	4133	0	F8	23	154159063	Frame_Shift_Del	DEL	G	TCGA-FG-6688-01A-11D-1893-08	460570	154159063	1111497	79	24585											
ANTXR1	84168	broad.mit.edu	37	2	69329991	69329991	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-6689-01A-11D-1893-08	TCGA-FG-6689-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00580e36-eea0-455e-90e7-f5ee7bd1cd7b	622315d2-4383-4daa-bbe1-6c1441db2ff8	g.chr2:69329991G>A	ENST00000303714.4	+	10	1043	c.721G>A	c.(721-723)Gtg>Atg	p.V241M	ANTXR1_ENST00000409349.3_Missense_Mutation_p.V241M|ANTXR1_ENST00000409829.3_Missense_Mutation_p.V241M	NM_032208.2	NP_115584.1	Q9H6X2	ANTR1_HUMAN	anthrax toxin receptor 1	241					actin cytoskeleton reorganization|substrate adhesion-dependent cell spreading	filopodium membrane|integral to membrane|lamellipodium membrane	actin filament binding|collagen binding|metal ion binding|protein binding|transmembrane receptor activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						TCAAGTTGTCGTGAGAGGAAA	0.473									Familial Infantile Hemangioma				25	359					0	0	0.00632	0	0	A	69329991	G	A	69329991	3	1	191	1	0	0	0	0	1	0	0	0	705	1145	40	1	759	1	ANTXR1	2	69329991	Missense_Mutation	SNP	G	TCGA-FG-6689-01A-11D-1893-08		69329991	173869382	1	24586											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-FG-6689-01A-11D-1893-08	TCGA-FG-6689-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00580e36-eea0-455e-90e7-f5ee7bd1cd7b	622315d2-4383-4daa-bbe1-6c1441db2ff8	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	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								23	53					0	0	0.01892	0	0	T	209113112	C	T	209113112	3	4	191	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-FG-6689-01A-11D-1893-08	139783121	209113112	34086261	2	24587											
ZNF827	152485	broad.mit.edu	37	4	146813423	146813423	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-6689-01A-11D-1893-08	TCGA-FG-6689-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00580e36-eea0-455e-90e7-f5ee7bd1cd7b	622315d2-4383-4daa-bbe1-6c1441db2ff8	g.chr4:146813423C>T	ENST00000508784.1	-	3	1465	c.1238G>A	c.(1237-1239)cGc>cAc	p.R413H	ZNF827_ENST00000513320.1_Missense_Mutation_p.R63H|ZNF827_ENST00000379448.4_Missense_Mutation_p.R413H			Q17R98	ZN827_HUMAN	zinc finger protein 827	413					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	all_hematologic(180;0.151)					ATTGTCCTTGCGAGCACACCG	0.512													25	82					0	0	0.00632	0	0	T	146813423	C	T	146813423	3	4	191	1	0	0	0	0	1	0	0	0	18227	768	27	1	2039	1	ZNF827	4	146813423	Missense_Mutation	SNP	C	TCGA-FG-6689-01A-11D-1893-08		146813423	44340853	3	24588											
FYB	2533	broad.mit.edu	37	5	39126188	39126188	+	Silent	SNP	A	A	G			TCGA-FG-6689-01A-11D-1893-08	TCGA-FG-6689-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00580e36-eea0-455e-90e7-f5ee7bd1cd7b	622315d2-4383-4daa-bbe1-6c1441db2ff8	g.chr5:39126188A>G	ENST00000505428.1	-	12	2114	c.1957T>C	c.(1957-1959)Ttg>Ctg	p.L653L	FYB_ENST00000512982.1_Silent_p.L653L|FYB_ENST00000515010.1_Intron|FYB_ENST00000540520.1_Silent_p.L663L|FYB_ENST00000351578.6_Intron	NM_001465.4	NP_001456.3	O15117	FYB_HUMAN	FYN binding protein	636					cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway	cytosol|nucleus	protein binding			endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45	all_lung(31;0.000343)		Epithelial(62;0.235)			AACATCTTCAAAATCCCCCAG	0.408													24	29					0	0	0.004656	0	0	G	39126188	A	G	39126188	2	3	191	1	0	0	0	0	0	0	0	1	6159	11	1	3		3	FYB	5	39126188	Silent	SNP	A	TCGA-FG-6689-01A-11D-1893-08		39126188	141789072	4	24589											
SMAD5	4090	broad.mit.edu	37	5	135510116	135510116	+	Missense_Mutation	SNP	A	A	G			TCGA-FG-6689-01A-11D-1893-08	TCGA-FG-6689-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00580e36-eea0-455e-90e7-f5ee7bd1cd7b	622315d2-4383-4daa-bbe1-6c1441db2ff8	g.chr5:135510116A>G	ENST00000545279.1	+	7	1409	c.1049A>G	c.(1048-1050)gAc>gGc	p.D350G	SMAD5_ENST00000514641.2_3'UTR|SMAD5_ENST00000545620.1_Missense_Mutation_p.D350G	NM_001001419.1|NM_005903.5	NP_001001419.1|NP_005894.3	Q99717	SMAD5_HUMAN	SMAD family member 5	350	MH2.				BMP signaling pathway|embryonic pattern specification|positive regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytosol|integral to membrane|transcription factor complex	sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|ubiquitin protein ligase binding			central_nervous_system(1)|large_intestine(4)|lung(3)	8			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TGCCTCAGTGACAGCAGCATA	0.418													6	137					0	0	0.001168	0	0	G	135510116	A	G	135510116	3	3	191	1	0	0	0	0	1	0	0	0	14815	275	10	3	1067	3	SMAD5	5	135510116	Missense_Mutation	SNP	A	TCGA-FG-6689-01A-11D-1893-08	96383928	135510116	45405144	5	24590											
TRIM7	81786	broad.mit.edu	37	5	180622600	180622600	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-6689-01A-11D-1893-08	TCGA-FG-6689-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00580e36-eea0-455e-90e7-f5ee7bd1cd7b	622315d2-4383-4daa-bbe1-6c1441db2ff8	g.chr5:180622600C>T	ENST00000393315.1	-	7	1175	c.478G>A	c.(478-480)Gag>Aag	p.E160K	TRIM7_ENST00000361809.3_Missense_Mutation_p.E160K|CTC-338M12.6_ENST00000512508.1_RNA|TRIM7_ENST00000504241.1_5'UTR|TRIM7_ENST00000274773.7_Missense_Mutation_p.E368K|TRIM7_ENST00000422067.2_Missense_Mutation_p.E160K|TRIM7_ENST00000393319.3_Missense_Mutation_p.E186K	NM_203296.1	NP_976041.1	Q9C029	TRIM7_HUMAN	tripartite motif containing 7	368						cytoplasm|nucleus	zinc ion binding			NS(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|stomach(1)	17	all_cancers(89;6.03e-06)|all_epithelial(37;7.1e-07)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.000172)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;2e-06)|Epithelial(171;1.35e-05)|OV - Ovarian serous cystadenocarcinoma(192;0.000128)|Kidney(146;0.0674)|GBM - Glioblastoma multiforme(465;0.0802)		TGGGCCCGCTCGCCGAGGCGC	0.667													20	76					0	0	0.008871	0	0	T	180622600	C	T	180622600	3	4	191	1	0	0	0	0	1	0	0	0	16604	893	31	1	437	1	TRIM7	5	180622600	Missense_Mutation	SNP	C	TCGA-FG-6689-01A-11D-1893-08	45112484	180622600	292660	6	24591											
OR2H2	7932	broad.mit.edu	37	6	29556539	29556539	+	Missense_Mutation	SNP	G	G	C			TCGA-FG-6689-01A-11D-1893-08	TCGA-FG-6689-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00580e36-eea0-455e-90e7-f5ee7bd1cd7b	622315d2-4383-4daa-bbe1-6c1441db2ff8	g.chr6:29556539G>C	ENST00000383640.2	+	1	857	c.818G>C	c.(817-819)gGt>gCt	p.G273A	GABBR1_ENST00000355973.3_Intron	NM_007160.3	NP_009091.3	O95918	OR2H2_HUMAN	olfactory receptor, family 2, subfamily H, member 2	273					defense response|mating|sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|urinary_tract(1)	14						AAGTTCTTTGGTCTCTTCTAT	0.512													4	75					0	0	0.009096	0	0	C	29556539	G	C	29556539	3	2	191	1	0	0	0	0	1	0	0	0	11050	1261	44	5	820	5	OR2H2	6	29556539	Missense_Mutation	SNP	G	TCGA-FG-6689-01A-11D-1893-08		29556539	141558528	7	24592											
MDC1	9656	broad.mit.edu	37	6	30679448	30679448	+	Silent	SNP	C	C	T			TCGA-FG-6689-01A-11D-1893-08	TCGA-FG-6689-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00580e36-eea0-455e-90e7-f5ee7bd1cd7b	622315d2-4383-4daa-bbe1-6c1441db2ff8	g.chr6:30679448C>T	ENST00000376406.3	-	6	2771	c.2124G>A	c.(2122-2124)ctG>ctA	p.L708L	MDC1-AS1_ENST00000442150.1_RNA|MDC1_ENST00000376405.2_Silent_p.L708L|MDC1_ENST00000494654.1_5'UTR	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	708				Missing (in Ref. 2; CAH18685).	cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|kidney(1)|ovary(1)	4						CCTCACCTTCCAGGCCCTGAT	0.468								Other conserved DNA damage response genes					6	131					0	0	0.004482	0	0	T	30679448	C	T	30679448	2	4	191	1	0	0	0	0	0	0	0	1	9453	581	21	2		2	MDC1	6	30679448	Silent	SNP	C	TCGA-FG-6689-01A-11D-1893-08	1122909	30679448	140435619	8	24593											
KATNA1	11104	broad.mit.edu	37	6	149959574	149959574	+	Frame_Shift_Del	DEL	T	T	-			TCGA-FG-6689-01A-11D-1893-08	TCGA-FG-6689-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00580e36-eea0-455e-90e7-f5ee7bd1cd7b	622315d2-4383-4daa-bbe1-6c1441db2ff8	g.chr6:149959574delT	ENST00000367411.2	-	2	368	c.110delA	c.(109-111)aacfs	p.N37fs	KATNA1_ENST00000335647.5_Frame_Shift_Del_p.N37fs|KATNA1_ENST00000335643.8_Frame_Shift_Del_p.N37fs	NM_007044.3	NP_008975.1	O75449	KTNA1_HUMAN	katanin p60 (ATPase containing) subunit A 1	37	Interaction with microtubule.				cell division|interphase of mitotic cell cycle|mitosis	microtubule|microtubule organizing center|spindle pole	ATP binding|microtubule binding|microtubule-severing ATPase activity|protein heterodimerization activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	12		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;2.95e-12)|GBM - Glioblastoma multiforme(68;0.173)		CAGATACTTGTTCATTTGGTC	0.403													78	197	---	---	---	---						-	149959574	T	-	149959574	7	5	191	1	0	1	0	1	0	0	0	0	8028	1725	60	0	1405	0	KATNA1	6	149959574	Frame_Shift_Del	DEL	T	TCGA-FG-6689-01A-11D-1893-08	119280126	149959574	21155493	9	24594											
MET	4233	broad.mit.edu	37	7	116397529	116397529	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-6689-01A-11D-1893-08	TCGA-FG-6689-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00580e36-eea0-455e-90e7-f5ee7bd1cd7b	622315d2-4383-4daa-bbe1-6c1441db2ff8	g.chr7:116397529T>C	ENST00000397752.3	+	7	2101	c.1901T>C	c.(1900-1902)tTc>tCc	p.F634S	MET_ENST00000318493.6_Missense_Mutation_p.F634S|MET_ENST00000436117.2_Missense_Mutation_p.F634S	NM_000245.2|NM_001127500.1	NP_000236.2|NP_001120972.1	P08581	MET_HUMAN	met proto-oncogene	634	IPT/TIG 1.				axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			AATAAGCATTTCAATATGTCC	0.343			Mis		"papillary renal, head-neck squamous cell "	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)				48	58					0	0	0.01441	0	0	C	116397529	T	C	116397529	3	2	191	1	0	0	0	0	1	0	0	0	9535	1783	62	3	1923	3	MET	7	116397529	Missense_Mutation	SNP	T	TCGA-FG-6689-01A-11D-1893-08		116397529	42741134	10	24595											
SULF1	23213	broad.mit.edu	37	8	70513977	70513977	+	Missense_Mutation	SNP	G	G	C			TCGA-FG-6689-01A-11D-1893-08	TCGA-FG-6689-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00580e36-eea0-455e-90e7-f5ee7bd1cd7b	622315d2-4383-4daa-bbe1-6c1441db2ff8	g.chr8:70513977G>C	ENST00000260128.4	+	10	1691	c.974G>C	c.(973-975)gGa>gCa	p.G325A	SULF1_ENST00000419716.3_Missense_Mutation_p.G325A|SULF1_ENST00000402687.4_Missense_Mutation_p.G325A|SULF1_ENST00000458141.2_Missense_Mutation_p.G325A|SULF1_ENST00000521946.1_3'UTR	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	325					apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			GGGCAGTTTGGACTGGTCAAG	0.448													9	258					0	0	0.004482	0	0	C	70513977	G	C	70513977	3	2	191	1	0	0	0	0	1	0	0	0	15426	1174	41	5	996	5	SULF1	8	70513977	Missense_Mutation	SNP	G	TCGA-FG-6689-01A-11D-1893-08		70513977	75850045	11	24596											
CA1	759	broad.mit.edu	37	8	86244738	86244738	+	Missense_Mutation	SNP	A	A	G			TCGA-FG-6689-01A-11D-1893-08	TCGA-FG-6689-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00580e36-eea0-455e-90e7-f5ee7bd1cd7b	622315d2-4383-4daa-bbe1-6c1441db2ff8	g.chr8:86244738A>G	ENST00000523953.1	-	7	1540	c.494T>C	c.(493-495)cTc>cCc	p.L165P	CA1_ENST00000431316.1_Missense_Mutation_p.L165P|CA1_ENST00000256119.5_Missense_Mutation_p.L165P|CA1_ENST00000523022.1_Missense_Mutation_p.L165P|CA1_ENST00000432364.2_Missense_Mutation_p.L165P|CA1_ENST00000542576.1_Missense_Mutation_p.L165P|CA1_ENST00000522389.1_Intron			P00915	CAH1_HUMAN	carbonic anhydrase I	165					one-carbon metabolic process	Golgi apparatus	carbonate dehydratase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	13		all_lung(136;4.89e-06)			Acetazolamide(DB00819)|Amlodipine(DB00381)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Dichlorphenamide(DB01144)|Ethinamate(DB01031)|Ethoxzolamide(DB00311)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Levetiracetam(DB01202)|Methazolamide(DB00703)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)|Verapamil(DB00661)|Zonisamide(DB00909)	AATTGCTTGGAGGGCATCAAG	0.328													28	31					0	0	0.017118	0	0	G	86244738	A	G	86244738	3	3	191	1	0	0	0	0	1	0	0	0	2528	304	11	3	303	3	CA1	8	86244738	Missense_Mutation	SNP	A	TCGA-FG-6689-01A-11D-1893-08	15730761	86244738	60119284	12	24597											
ACP2	53	broad.mit.edu	37	11	47264838	47264838	+	Silent	SNP	G	G	A			TCGA-FG-6689-01A-11D-1893-08	TCGA-FG-6689-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00580e36-eea0-455e-90e7-f5ee7bd1cd7b	622315d2-4383-4daa-bbe1-6c1441db2ff8	g.chr11:47264838G>A	ENST00000256997.3	-	8	923	c.807C>T	c.(805-807)acC>acT	p.T269T	ACP2_ENST00000527256.1_Silent_p.T237T|ACP2_ENST00000525230.1_5'UTR|ACP2_ENST00000529444.1_Silent_p.T206T|ACP2_ENST00000533929.1_Silent_p.T241T|ACP2_ENST00000537863.1_Silent_p.T82T	NM_001610.2	NP_001601.1	P11117	PPAL_HUMAN	acid phosphatase 2, lysosomal	269						integral to membrane|lysosomal lumen|lysosomal membrane	acid phosphatase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)	10						TCGCCATTAGGGTCAGGTTCT	0.562													6	62					0	0	0.001984	0	0	A	47264838	G	A	47264838	2	1	191	1	0	0	0	0	0	0	0	1	163	1219	43	2		2	ACP2	11	47264838	Silent	SNP	G	TCGA-FG-6689-01A-11D-1893-08		47264838	87741678	13	24598											
DIXDC1	85458	broad.mit.edu	37	11	111865764	111865764	+	Missense_Mutation	SNP	A	A	T			TCGA-FG-6689-01A-11D-1893-08	TCGA-FG-6689-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00580e36-eea0-455e-90e7-f5ee7bd1cd7b	622315d2-4383-4daa-bbe1-6c1441db2ff8	g.chr11:111865764A>T	ENST00000440460.2	+	16	1753	c.1456A>T	c.(1456-1458)Aac>Tac	p.N486Y	DIXDC1_ENST00000389821.4_3'UTR|DIXDC1_ENST00000315253.5_Missense_Mutation_p.N275Y	NM_001037954.2	NP_001033043.1	Q155Q3	DIXC1_HUMAN	DIX domain containing 1	487					multicellular organismal development|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytosol|focal adhesion	actin binding|gamma-tubulin binding|signal transducer activity			cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	17		all_cancers(61;7.58e-15)|all_epithelial(67;5.42e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;2.99e-07)|BRCA - Breast invasive adenocarcinoma(274;6.72e-07)|all cancers(92;6.25e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0548)		CAACAGTCACAACTCTCAAAG	0.438													79	152					0	0	0.01441	0	0	T	111865764	A	T	111865764	3	4	191	1	0	0	0	0	1	0	0	0	4569	130	5	5	1543	5	DIXDC1	11	111865764	Missense_Mutation	SNP	A	TCGA-FG-6689-01A-11D-1893-08	64600926	111865764	23140752	14	24599											
KIF23	9493	broad.mit.edu	37	15	69714351	69714351	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-6689-01A-11D-1893-08	TCGA-FG-6689-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00580e36-eea0-455e-90e7-f5ee7bd1cd7b	622315d2-4383-4daa-bbe1-6c1441db2ff8	g.chr15:69714351G>A	ENST00000260363.4	+	5	454	c.337G>A	c.(337-339)Gtg>Atg	p.V113M	KIF23_ENST00000352331.4_Missense_Mutation_p.V113M|KIF23_ENST00000395392.2_Missense_Mutation_p.V113M|KIF23_ENST00000559279.1_Missense_Mutation_p.V113M	NM_138555.2	NP_612565.1	Q02241	KIF23_HUMAN	kinesin family member 23	113	Kinesin-motor.				blood coagulation|cytokinesis|microtubule-based movement|mitosis|mitotic spindle elongation	cytosol|kinesin complex|microtubule|midbody|nucleoplasm|spindle	ATP binding|microtubule motor activity|protein binding			central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(6)|prostate(2)|skin(1)	21						TACATATGGTGTGACGGGAAG	0.408													6	51					0	0	0.001168	0	0	A	69714351	G	A	69714351	3	1	191	1	0	0	0	0	1	0	0	0	8333	1377	48	2	355	2	KIF23	15	69714351	Missense_Mutation	SNP	G	TCGA-FG-6689-01A-11D-1893-08		69714351	32817041	15	24600											
CTRL	1506	broad.mit.edu	37	16	67963919	67963919	+	Frame_Shift_Del	DEL	T	T	-			TCGA-FG-6689-01A-11D-1893-08	TCGA-FG-6689-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00580e36-eea0-455e-90e7-f5ee7bd1cd7b	622315d2-4383-4daa-bbe1-6c1441db2ff8	g.chr16:67963919delT	ENST00000574481.1	-	7	1274	c.713delA	c.(712-714)aacfs	p.N238fs		NM_001907.2	NP_001898.1	P40313	CTRL_HUMAN	chymotrypsin-like	238	Peptidase S1.				digestion|proteolysis	extracellular space	serine-type endopeptidase activity			kidney(1)|large_intestine(2)|urinary_tract(1)	4		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00412)|Epithelial(162;0.018)|all cancers(182;0.118)		CACATTGCAGTTTTTGGTGCC	0.552													8	268	---	---	---	---						-	67963919	T	-	67963919	7	5	191	1	0	1	0	1	0	0	0	0	4052	1725	60	0	85	0	CTRL	16	67963919	Frame_Shift_Del	DEL	T	TCGA-FG-6689-01A-11D-1893-08		67963919	22390834	16	24601											
TP53	7157	broad.mit.edu	37	17	7579346	7579348	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-FG-6689-01A-11D-1893-08	TCGA-FG-6689-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00580e36-eea0-455e-90e7-f5ee7bd1cd7b	622315d2-4383-4daa-bbe1-6c1441db2ff8	g.chr17:7579346_7579348delAAG	ENST00000420246.2	-	4	471_473	c.339_341delCTT	c.(337-342)ttcttg>ttg	p.F113del	TP53_ENST00000269305.4_In_Frame_Del_p.F113del|TP53_ENST00000413465.2_In_Frame_Del_p.F113del|TP53_ENST00000455263.2_In_Frame_Del_p.F113del|TP53_ENST00000359597.4_In_Frame_Del_p.F113del|TP53_ENST00000445888.2_In_Frame_Del_p.F113del	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	113	Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		F -> C (in sporadic cancers; somatic mutation).|F -> G (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|F -> I (in a sporadic cancer; somatic mutation).|F -> L (in sporadic cancers; somatic mutation).|F -> S (in sporadic cancers; somatic mutation).|F -> V (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.0?(8)|p.L114*(4)|p.F113L(3)|p.G59fs*23(3)|p.F113C(2)|p.F113del(2)|p.V73fs*9(1)|p.G105_T125del21(1)|p.G112_V122delGFLHSGTAKSV(1)|p.G112fs*9(1)|p.Y107fs*44(1)|p.G112_S116delGFLHS(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.L114fs*30(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)		CCCAGAATGCAAGAAGCCCAGAC	0.601		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)			31	79	---	---	---	---						-	7579348	AAG	-	7579346	7	5	191	1	0	1	0	1	0	0	0	0	16442	131	5	0	961	0	TP53	17	7579346	In_Frame_Del	DEL	AAG	TCGA-FG-6689-01A-11D-1893-08		7579346	73615864	17	24602											
TP53	7157	broad.mit.edu	37	17	7579589	7579590	+	Splice_Site	INS	-	-	A			TCGA-FG-6689-01A-11D-1893-08	TCGA-FG-6689-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00580e36-eea0-455e-90e7-f5ee7bd1cd7b	622315d2-4383-4daa-bbe1-6c1441db2ff8	g.chr17:7579589_7579590insA	ENST00000420246.2	-	4	229_230	c.97_98insT	c.(97-99)tcc>tTcc	p.S33fs	TP53_ENST00000269305.4_Splice_Site_p.S33fs|TP53_ENST00000413465.2_Splice_Site_p.S33fs|TP53_ENST00000455263.2_Splice_Site_p.S33fs|TP53_ENST00000359597.4_Splice_Site_p.S33fs|TP53_ENST00000445888.2_Splice_Site_p.S33fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	33	Interaction with HRMT1L2.|Transcription activation (acidic).		S -> T (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.0?(8)|p.L35fs*10(3)|p.L35fs*9(2)|p.?(1)|p.S33fs*23(1)|p.S33fs*11(1)|p.S33fs*10(1)|p.S33T(1)|p.P13fs*18(1)|p.S33fs*6(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)		CGGCAAGGGGGACTGTAGATGG	0.594		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)			132	228	---	---	---	---						A	7579590	-	A	7579589	8	5	191	1	0	1	1	0	0	0	1	0	16442	1188	41	0	1204	0	TP53	17	7579589	Splice_Site	INS	-	TCGA-FG-6689-01A-11D-1893-08	243	7579589	73615621	18	24603											
SLC47A2	146802	broad.mit.edu	37	17	19606453	19606453	+	Missense_Mutation	SNP	A	A	G			TCGA-FG-6689-01A-11D-1893-08	TCGA-FG-6689-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00580e36-eea0-455e-90e7-f5ee7bd1cd7b	622315d2-4383-4daa-bbe1-6c1441db2ff8	g.chr17:19606453A>G	ENST00000350657.5	-	13	1262	c.1088T>C	c.(1087-1089)cTg>cCg	p.L363P	SLC47A2_ENST00000463318.1_Intron|SLC47A2_ENST00000325411.5_Missense_Mutation_p.L385P	NM_001099646.1|NM_001256663.1	NP_001093116.1|NP_001243592.1	Q86VL8	S47A2_HUMAN	solute carrier family 47 (multidrug and toxin extrusion), member 2	385						integral to membrane|plasma membrane	drug:hydrogen antiporter activity			endometrium(2)|kidney(3)|large_intestine(2)|lung(1)|ovary(1)	9	all_cancers(12;2.3e-05)|all_epithelial(12;0.0024)|Breast(13;0.245)					GATGCTTATCAGGGTGCCCAG	0.483													3	48					0	0	0.009096	0	0	G	19606453	A	G	19606453	3	3	191	1	0	0	0	0	1	0	0	0	14703	188	7	3	678	3	SLC47A2	17	19606453	Missense_Mutation	SNP	A	TCGA-FG-6689-01A-11D-1893-08	12026864	19606453	61588757	19	24604											
SGCA	6442	broad.mit.edu	37	17	48246530	48246530	+	Missense_Mutation	SNP	G	G	A	rs138254713	by1000genomes	TCGA-FG-6689-01A-11D-1893-08	TCGA-FG-6689-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00580e36-eea0-455e-90e7-f5ee7bd1cd7b	622315d2-4383-4daa-bbe1-6c1441db2ff8	g.chr17:48246530G>A	ENST00000262018.3	+	6	698	c.662G>A	c.(661-663)cGc>cAc	p.R221H	SGCA_ENST00000543315.1_Intron|SGCA_ENST00000513942.1_Intron|SGCA_ENST00000344627.6_Intron|SGCA_ENST00000451235.2_Missense_Mutation_p.R119H	NM_000023.2	NP_000014.1	Q16586	SGCA_HUMAN	sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein)	221					muscle contraction|muscle organ development	cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma	calcium ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(7)|ovary(2)|skin(1)	14						AGCCACGCCCGCTGTGCCCAG	0.577											OREG0024558	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	45	55					0	0	0.010771	0	0	A	48246530	G	A	48246530	3	1	191	1	0	0	0	0	1	0	0	0	14253	1087	38	1	684	1	SGCA	17	48246530	Missense_Mutation	SNP	G	TCGA-FG-6689-01A-11D-1893-08	28640077	48246530	32948680	20	24605											
TSHZ1	10194	broad.mit.edu	37	18	72998072	72998072	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-6689-01A-11D-1893-08	TCGA-FG-6689-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00580e36-eea0-455e-90e7-f5ee7bd1cd7b	622315d2-4383-4daa-bbe1-6c1441db2ff8	g.chr18:72998072G>A	ENST00000322038.5	+	2	1159	c.575G>A	c.(574-576)gGc>gAc	p.G192D	TSHZ1_ENST00000580243.1_Missense_Mutation_p.G237D	NM_005786.5	NP_005777.3	Q6ZSZ6	TSH1_HUMAN	teashirt zinc finger homeobox 1	237	Ser-rich.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		AAGCTCTACGGCTCCGTCTTC	0.617													5	50					0	0	0.001984	0	0	A	72998072	G	A	72998072	3	1	191	1	0	0	0	0	1	0	0	0	16684	1203	42	2	577	2	TSHZ1	18	72998072	Missense_Mutation	SNP	G	TCGA-FG-6689-01A-11D-1893-08		72998072	5079176	21	24606											
S1PR5	53637	broad.mit.edu	37	19	10624526	10624526	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-6689-01A-11D-1893-08	TCGA-FG-6689-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00580e36-eea0-455e-90e7-f5ee7bd1cd7b	622315d2-4383-4daa-bbe1-6c1441db2ff8	g.chr19:10624526C>T	ENST00000439028.3	-	2	1287	c.1162G>A	c.(1162-1164)Gcc>Acc	p.A388T	S1PR5_ENST00000333430.4_Missense_Mutation_p.A388T	NM_001166215.1	NP_001159687.1	Q9H228	S1PR5_HUMAN	sphingosine-1-phosphate receptor 5	388						integral to membrane|plasma membrane	lysosphingolipid and lysophosphatidic acid receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	12						AGAGTCCGGGCGGCTGTGGGT	0.612													12	91					0	0	0.010729	0	0	T	10624526	C	T	10624526	3	4	191	1	0	0	0	0	1	0	0	0	13849	768	27	1	38	1	S1PR5	19	10624526	Missense_Mutation	SNP	C	TCGA-FG-6689-01A-11D-1893-08		10624526	48504457	22	24607											
PLCB1	23236	broad.mit.edu	37	20	8665706	8665706	+	Silent	SNP	G	G	A			TCGA-FG-6689-01A-11D-1893-08	TCGA-FG-6689-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00580e36-eea0-455e-90e7-f5ee7bd1cd7b	622315d2-4383-4daa-bbe1-6c1441db2ff8	g.chr20:8665706G>A	ENST00000378641.3	+	10	1465	c.990G>A	c.(988-990)tcG>tcA	p.S330S	PLCB1_ENST00000338037.6_Silent_p.S330S|PLCB1_ENST00000378637.2_Silent_p.S330S	NM_182734.1	NP_877398.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	330	PI-PLC X-box.				activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						TTAATTCCTCGCACAACACCT	0.418													12	156					0	0	0.016723	0	0	A	8665706	G	A	8665706	2	1	191	1	0	0	0	0	0	0	0	1	12075	1074	38	1		1	PLCB1	20	8665706	Silent	SNP	G	TCGA-FG-6689-01A-11D-1893-08		8665706	54359814	23	24608											
BPI	671	broad.mit.edu	37	20	36953197	36953197	+	Nonsense_Mutation	SNP	C	C	T	rs150749170		TCGA-FG-6689-01A-11D-1893-08	TCGA-FG-6689-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00580e36-eea0-455e-90e7-f5ee7bd1cd7b	622315d2-4383-4daa-bbe1-6c1441db2ff8	g.chr20:36953197C>T	ENST00000262865.4	+	9	1056	c.967C>T	c.(967-969)Cga>Tga	p.R323*	CTD-2308N23.2_ENST00000437016.1_RNA|BPI_ENST00000489102.1_3'UTR	NM_001725.2	NP_001716.2	P17213	BPI_HUMAN	bactericidal/permeability-increasing protein	323					defense response to bacterium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of macrophage activation|negative regulation of tumor necrosis factor production	extracellular region|integral to plasma membrane	lipid binding|lipopolysaccharide binding			kidney(1)|large_intestine(6)|lung(15)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	30		Myeloproliferative disorder(115;0.00878)				GTCCAAATTTCGACTGACAAC	0.512													6	103					0	0	0.001984	0	0	T	36953197	C	T	36953197	4	4	191	1	0	0	0	0	0	1	0	0	1492	876	31	1	1001	1	BPI	20	36953197	Nonsense_Mutation	SNP	C	TCGA-FG-6689-01A-11D-1893-08	28287491	36953197	26072323	24	24609											
BAGE2	85319	broad.mit.edu	37	21	11038917	11038917	+	RNA	SNP	A	A	G			TCGA-FG-6689-01A-11D-1893-08	TCGA-FG-6689-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00580e36-eea0-455e-90e7-f5ee7bd1cd7b	622315d2-4383-4daa-bbe1-6c1441db2ff8	g.chr21:11038917A>G	ENST00000470054.1	-	0	1286									B melanoma antigen family, member 2															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)		GGGGAGGAAGACACATCTGCC	0.428													40	604					0	0	0.007835	0	0	G	11038917	A	G	11038917	1	3	191	0	1	0	0	0	0	0	0	0	1290	290	10	3		3	BAGE2	21	11038917	RNA	SNP	A	TCGA-FG-6689-01A-11D-1893-08		11038917	37090978	25	24610											
ATRX	546	broad.mit.edu	37	X	76912104	76912104	+	Nonsense_Mutation	SNP	G	G	C			TCGA-FG-6689-01A-11D-1893-08	TCGA-FG-6689-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00580e36-eea0-455e-90e7-f5ee7bd1cd7b	622315d2-4383-4daa-bbe1-6c1441db2ff8	g.chrX:76912104G>C	ENST00000373344.5	-	13	4374	c.4160C>G	c.(4159-4161)tCa>tGa	p.S1387*	ATRX_ENST00000395603.3_Nonsense_Mutation_p.S1349*|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1387					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)	ACTAACTCCTGATTCCTGAAA	0.284			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						23	14					0	0	0.021523	0	0	C	76912104	G	C	76912104	4	2	191	1	0	0	0	0	0	1	0	0	1206	1294	45	5	3410	5	ATRX	23	76912104	Nonsense_Mutation	SNP	G	TCGA-FG-6689-01A-11D-1893-08		76912104	78358456	26	24611											
ATAD3B	83858	broad.mit.edu	37	1	1431191	1431191	+	Silent	SNP	G	G	T			TCGA-FG-6690-01A-11D-1893-08	TCGA-FG-6690-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68080470-9502-41cb-b0e1-786f2c3fe62a	b8e3eb49-7c11-4317-93ef-7dae88807e25	g.chr1:1431191G>T	ENST00000308647.7	+	16	2057	c.1941G>T	c.(1939-1941)ctG>ctT	p.L647L		NM_031921.4	NP_114127.3	Q5T9A4	ATD3B_HUMAN	ATPase family, AAA domain containing 3B	647							ATP binding|nucleoside-triphosphatase activity			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)|urinary_tract(1)	10	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		GGCACCCCCTGTTGTAGGCAC	0.657													3	28					6.4e-05	7.00952e-05	0.115264	1	0	T	1431191	G	T	1431191	2	4	192	1	0	0	0	0	0	0	0	1	1073	1364	48	5		5	ATAD3B	1	1431191	Silent	SNP	G	TCGA-FG-6690-01A-11D-1893-08		1431191	247819430	1	24612											
PANK4	55229	broad.mit.edu	37	1	2440330	2440330	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-6690-01A-11D-1893-08	TCGA-FG-6690-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68080470-9502-41cb-b0e1-786f2c3fe62a	b8e3eb49-7c11-4317-93ef-7dae88807e25	g.chr1:2440330G>A	ENST00000378466.3	-	19	2290	c.2278C>T	c.(2278-2280)Cgg>Tgg	p.R760W	PANK4_ENST00000435556.3_Missense_Mutation_p.R721W	NM_018216.1	NP_060686.1	Q9NVE7	PANK4_HUMAN	pantothenate kinase 4	760					coenzyme A biosynthetic process	cytoplasm	ATP binding|pantothenate kinase activity			breast(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	23	all_cancers(77;0.000158)|all_epithelial(69;8.01e-05)|all_lung(157;0.0212)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.18e-20)|all_lung(118;1.67e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;1.54e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.95e-23)|GBM - Glioblastoma multiforme(42;2.81e-08)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.00445)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)		CTGAAGAGCCGGCCGCCCAGC	0.622													17	22					0	0	0.575678	0	0	A	2440330	G	A	2440330	3	1	192	1	0	0	0	0	1	0	0	0	11466	1115	39	1	47	1	PANK4	1	2440330	Missense_Mutation	SNP	G	TCGA-FG-6690-01A-11D-1893-08	1009139	2440330	246810291	2	24613											
SPEN	23013	broad.mit.edu	37	1	16242638	16242638	+	Missense_Mutation	SNP	A	A	G			TCGA-FG-6690-01A-11D-1893-08	TCGA-FG-6690-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68080470-9502-41cb-b0e1-786f2c3fe62a	b8e3eb49-7c11-4317-93ef-7dae88807e25	g.chr1:16242638A>G	ENST00000375759.3	+	6	1463	c.1259A>G	c.(1258-1260)aAt>aGt	p.N420S		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	420					interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		GAAAGTGAAAATGAATTTCGC	0.348													4	69					0	0	0.150653	0	0	G	16242638	A	G	16242638	3	3	192	1	0	0	0	0	1	0	0	0	15094	101	4	3	1281	3	SPEN	1	16242638	Missense_Mutation	SNP	A	TCGA-FG-6690-01A-11D-1893-08	13802308	16242638	233007983	3	24614											
CSMD2	114784	broad.mit.edu	37	1	34238304	34238304	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-6690-01A-11D-1893-08	TCGA-FG-6690-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68080470-9502-41cb-b0e1-786f2c3fe62a	b8e3eb49-7c11-4317-93ef-7dae88807e25	g.chr1:34238304C>T	ENST00000373381.4	-	13	1888	c.1712G>A	c.(1711-1713)cGg>cAg	p.R571Q	CSMD2_ENST00000338325.1_Missense_Mutation_p.R179Q	NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	531	Sushi 3.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GCCTTCCCTCCGGCCATATGC	0.522													4	120					0	0	0.184627	0	0	T	34238304	C	T	34238304	3	4	192	1	0	0	0	0	1	0	0	0	3970	652	23	1	9099	1	CSMD2	1	34238304	Missense_Mutation	SNP	C	TCGA-FG-6690-01A-11D-1893-08	17995666	34238304	215012317	4	24615											
ZZZ3	26009	broad.mit.edu	37	1	78041829	78041829	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-6690-01A-11D-1893-08	TCGA-FG-6690-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68080470-9502-41cb-b0e1-786f2c3fe62a	b8e3eb49-7c11-4317-93ef-7dae88807e25	g.chr1:78041829G>A	ENST00000370801.3	-	12	2730	c.2255C>T	c.(2254-2256)cCg>cTg	p.P752L	ZZZ3_ENST00000476275.1_5'UTR|ZZZ3_ENST00000370798.1_Missense_Mutation_p.P258L	NM_015534.4	NP_056349.1	Q8IYH5	ZZZ3_HUMAN	zinc finger, ZZ-type containing 3	752					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(2)	39						ATACACTGGCGGTTCATGTGA	0.378													38	62					0	0	0.804634	0	0	A	78041829	G	A	78041829	3	1	192	1	0	0	0	0	1	0	0	0	18296	1116	39	1	472	1	ZZZ3	1	78041829	Missense_Mutation	SNP	G	TCGA-FG-6690-01A-11D-1893-08	43803525	78041829	171208792	5	24616											
RBMXL1	494115	broad.mit.edu	37	1	89448635	89448635	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-6690-01A-11D-1893-08	TCGA-FG-6690-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68080470-9502-41cb-b0e1-786f2c3fe62a	b8e3eb49-7c11-4317-93ef-7dae88807e25	g.chr1:89448635C>T	ENST00000399794.2	-	3	1590	c.875G>A	c.(874-876)cGt>cAt	p.R292H	CCBL2_ENST00000370491.3_Intron|RBMXL1_ENST00000321792.5_Missense_Mutation_p.R292H|CCBL2_ENST00000446900.2_Intron|CCBL2_ENST00000260508.4_Intron|CCBL2_ENST00000370485.2_Intron	NM_001162536.2	NP_001156008.1	Q96E39	RBMXL_HUMAN	RNA binding motif protein, X-linked-like 1	292	Ser-rich.						nucleotide binding|RNA binding										TGGAGCACTACGTGAGTTACC	0.483													18	273					0	0	0.557998	0	0	T	89448635	C	T	89448635	3	4	192	1	0	0	0	0	1	0	0	0	13205	536	19	1	301	1	RBMXL1	1	89448635	Missense_Mutation	SNP	C	TCGA-FG-6690-01A-11D-1893-08	11406806	89448635	159801986	6	24617											
NOTCH2	4853	broad.mit.edu	37	1	120471782	120471782	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-6690-01A-11D-1893-08	TCGA-FG-6690-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68080470-9502-41cb-b0e1-786f2c3fe62a	b8e3eb49-7c11-4317-93ef-7dae88807e25	g.chr1:120471782T>C	ENST00000256646.2	-	23	3928	c.3709A>G	c.(3709-3711)Aat>Gat	p.N1237D		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	1237	EGF-like 32; 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)		TGACCACCATTAAGGCAATGG	0.507			"N, F, Mis"		"marginal zone lymphoma, DLBCL"				Alagille Syndrome				3	75					0	0	0.115264	0	0	C	120471782	T	C	120471782	3	2	192	1	0	0	0	0	1	0	0	0	10595	1754	61	3	3754	3	NOTCH2	1	120471782	Missense_Mutation	SNP	T	TCGA-FG-6690-01A-11D-1893-08	31023147	120471782	128778839	7	24618											
NIF3L1	60491	broad.mit.edu	37	2	201757035	201757035	+	Missense_Mutation	SNP	C	C	G			TCGA-FG-6690-01A-11D-1893-08	TCGA-FG-6690-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68080470-9502-41cb-b0e1-786f2c3fe62a	b8e3eb49-7c11-4317-93ef-7dae88807e25	g.chr2:201757035C>G	ENST00000409020.1	+	2	663	c.369C>G	c.(367-369)atC>atG	p.I123M	NIF3L1_ENST00000359683.4_Missense_Mutation_p.I96M|NIF3L1_ENST00000409357.1_Missense_Mutation_p.I123M|NIF3L1_ENST00000409588.1_Missense_Mutation_p.I123M|NIF3L1_ENST00000416651.1_Missense_Mutation_p.I123M			Q9GZT8	NIF3L_HUMAN	NIF3 NGG1 interacting factor 3-like 1 (S. cerevisiae)	123					positive regulation of transcription, DNA-dependent		transcription factor binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)|urinary_tract(2)	13						GAGTCGGTATCTACTCTCCTC	0.527													3	88					0	0	0.115264	0	0	G	201757035	C	G	201757035	3	3	192	1	0	0	0	0	1	0	0	0	10463	903	32	4	371	4	NIF3L1	2	201757035	Missense_Mutation	SNP	C	TCGA-FG-6690-01A-11D-1893-08		201757035	41442338	8	24619											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-FG-6690-01A-11D-1893-08	TCGA-FG-6690-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68080470-9502-41cb-b0e1-786f2c3fe62a	b8e3eb49-7c11-4317-93ef-7dae88807e25	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								23	63					0	0	0.639603	0	0	T	209113112	C	T	209113112	3	4	192	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-FG-6690-01A-11D-1893-08	7356077	209113112	34086261	9	24620											
GBA3	57733	broad.mit.edu	37	4	22749784	22749785	+	RNA	DEL	TA	TA	-	rs73803318		TCGA-FG-6690-01A-11D-1893-08	TCGA-FG-6690-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68080470-9502-41cb-b0e1-786f2c3fe62a	b8e3eb49-7c11-4317-93ef-7dae88807e25	g.chr4:22749784_22749785delTA	ENST00000511446.2	+	0	1087				GBA3_ENST00000503442.1_RNA|GBA3_ENST00000508166.1_RNA	NM_001277225.1	NP_001264154.1	Q9H227	GBA3_HUMAN	glucosidase, beta, acid 3 (gene/pseudogene)						glycoside catabolic process|glycosylceramide catabolic process	cytosol	beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity			breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						CAGGCatatgtatatatatata	0.342													2	4	---	---	---	---						-	22749785	TA	-	22749784	6	5	192	0	1	1	0	1	0	0	0	0	6308	1653	57	0		0	GBA3	4	22749784	RNA	DEL	TA	TCGA-FG-6690-01A-11D-1893-08		22749784	168404492	10	24621											
FRYL	285527	broad.mit.edu	37	4	48517115	48517115	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-6690-01A-11D-1893-08	TCGA-FG-6690-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68080470-9502-41cb-b0e1-786f2c3fe62a	b8e3eb49-7c11-4317-93ef-7dae88807e25	g.chr4:48517115C>T	ENST00000358350.4	-	56	8471	c.7867G>A	c.(7867-7869)Gtt>Att	p.V2623I	FRYL_ENST00000537810.1_Missense_Mutation_p.V2623I|FRYL_ENST00000507873.2_Missense_Mutation_p.V19I|FRYL_ENST00000503238.1_Missense_Mutation_p.V2623I|FRYL_ENST00000264319.7_Missense_Mutation_p.V19I	NM_015030.1	NP_055845.1	O94915	FRYL_HUMAN	FRY-like	2623					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						GCTAAGGTAACATCCTCTTCA	0.423													8	132					0	0	0.27861	0	0	T	48517115	C	T	48517115	3	4	192	1	0	0	0	0	1	0	0	0	6099	478	17	2	1210	2	FRYL	4	48517115	Missense_Mutation	SNP	C	TCGA-FG-6690-01A-11D-1893-08	25767331	48517115	142637161	11	24622											
MSX2	4488	broad.mit.edu	37	5	174156254	174156254	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-6690-01A-11D-1893-08	TCGA-FG-6690-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68080470-9502-41cb-b0e1-786f2c3fe62a	b8e3eb49-7c11-4317-93ef-7dae88807e25	g.chr5:174156254G>A	ENST00000239243.6	+	2	599	c.472G>A	c.(472-474)Gag>Aag	p.E158K	MSX2_ENST00000507785.1_3'UTR	NM_002449.4	NP_002440.2	P35548	MSX2_HUMAN	msh homeobox 2	158					cranial suture morphogenesis|negative regulation of transcription, DNA-dependent|osteoblast differentiation	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	10	Renal(175;0.000159)|Lung NSC(126;0.0196)|all_lung(126;0.0303)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			CCTCGCCCTGGAGCGCAAGTT	0.552													4	72					0	0	0.184627	0	0	A	174156254	G	A	174156254	3	1	192	1	0	0	0	0	1	0	0	0	9944	1175	41	2	478	2	MSX2	5	174156254	Missense_Mutation	SNP	G	TCGA-FG-6690-01A-11D-1893-08		174156254	6759006	12	24623											
MUC21	394263	broad.mit.edu	37	6	30954953	30954953	+	Missense_Mutation	SNP	A	A	T			TCGA-FG-6690-01A-11D-1893-08	TCGA-FG-6690-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68080470-9502-41cb-b0e1-786f2c3fe62a	b8e3eb49-7c11-4317-93ef-7dae88807e25	g.chr6:30954953A>T	ENST00000376296.3	+	2	1242	c.1001A>T	c.(1000-1002)gAg>gTg	p.E334V	MUC21_ENST00000486149.2_5'UTR	NM_001010909.2	NP_001010909.2	Q5SSG8	MUC21_HUMAN	mucin 21, cell surface associated	334	28 X 15 AA approximate tandem repeats.|Ser-rich.					integral to membrane|plasma membrane				NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						ACCAACTCTGAGTCCAGCACG	0.622													15	411					0	0	0.500413	0	0	T	30954953	A	T	30954953	3	4	192	1	0	0	0	0	1	0	0	0	10025	304	11	5	1007	5	MUC21	6	30954953	Missense_Mutation	SNP	A	TCGA-FG-6690-01A-11D-1893-08		30954953	140160114	13	24624											
DNAH8	1769	broad.mit.edu	37	6	38976646	38976646	+	Missense_Mutation	SNP	A	A	G			TCGA-FG-6690-01A-11D-1893-08	TCGA-FG-6690-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68080470-9502-41cb-b0e1-786f2c3fe62a	b8e3eb49-7c11-4317-93ef-7dae88807e25	g.chr6:38976646A>G	ENST00000359357.3	+	87	12874	c.12620A>G	c.(12619-12621)aAa>aGa	p.K4207R	DNAH8_ENST00000441566.1_Missense_Mutation_p.K4171R					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						ATTCAACCCAAAGAGAGTGGA	0.423													86	145					0	0	0.870114	0	0	G	38976646	A	G	38976646	3	3	192	1	0	0	0	0	1	0	0	0	4634	14	1	3	12958	3	DNAH8	6	38976646	Missense_Mutation	SNP	A	TCGA-FG-6690-01A-11D-1893-08	8021693	38976646	132138421	14	24625											
PHF10	55274	broad.mit.edu	37	6	170112612	170112612	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-6690-01A-11D-1893-08	TCGA-FG-6690-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68080470-9502-41cb-b0e1-786f2c3fe62a	b8e3eb49-7c11-4317-93ef-7dae88807e25	g.chr6:170112612T>C	ENST00000339209.4	-	8	950	c.827A>G	c.(826-828)tAt>tGt	p.Y276C	PHF10_ENST00000366780.4_Missense_Mutation_p.Y274C	NM_018288.3|NM_133325.2	NP_060758.2|NP_579866.2	Q8WUB8	PHF10_HUMAN	PHD finger protein 10	276	SAY.				nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	npBAF complex	zinc ion binding			endometrium(2)|large_intestine(2)|liver(3)|lung(4)|prostate(2)|urinary_tract(1)	14		Breast(66;5.08e-05)|Ovarian(120;0.208)		OV - Ovarian serous cystadenocarcinoma(33;1.4e-21)|BRCA - Breast invasive adenocarcinoma(81;1.4e-07)|GBM - Glioblastoma multiforme(31;0.00176)		TAATGGCAGATACCGCAGCTC	0.438													8	109					0	0	0.335167	0	0	C	170112612	T	C	170112612	3	2	192	1	0	0	0	0	1	0	0	0	11869	1406	49	3	689	3	PHF10	6	170112612	Missense_Mutation	SNP	T	TCGA-FG-6690-01A-11D-1893-08	131135966	170112612	1002455	15	24626											
TWISTNB	221830	broad.mit.edu	37	7	19738083	19738083	+	Silent	SNP	G	G	A			TCGA-FG-6690-01A-11D-1893-08	TCGA-FG-6690-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68080470-9502-41cb-b0e1-786f2c3fe62a	b8e3eb49-7c11-4317-93ef-7dae88807e25	g.chr7:19738083G>A	ENST00000222567.5	-	4	943	c.873C>T	c.(871-873)gaC>gaT	p.D291D		NM_001002926.1	NP_001002926.1	Q3B726	RPA43_HUMAN	TWIST neighbor	291	Lys-rich.					microtubule cytoskeleton|nucleolus	DNA-directed RNA polymerase activity			kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	20						GGAAAACAGGGTCCTGGTCCT	0.438													7	466					0	0	0.27861	0	0	A	19738083	G	A	19738083	2	1	192	1	0	0	0	0	0	0	0	1	16846	1252	44	2		2	TWISTNB	7	19738083	Silent	SNP	G	TCGA-FG-6690-01A-11D-1893-08		19738083	139400580	16	24627											
ZNF658	26149	broad.mit.edu	37	9	40774421	40774421	+	Missense_Mutation	SNP	A	A	G			TCGA-FG-6690-01A-11D-1893-08	TCGA-FG-6690-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68080470-9502-41cb-b0e1-786f2c3fe62a	b8e3eb49-7c11-4317-93ef-7dae88807e25	g.chr9:40774421A>G	ENST00000602553.1	-	5	1148	c.854T>C	c.(853-855)gTt>gCt	p.V285A	ZNF658_ENST00000377626.3_Missense_Mutation_p.V285A|ZNF658_ENST00000441795.1_Missense_Mutation_p.V283A			Q5TYW1	ZN658_HUMAN	zinc finger protein 658	285					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	46				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		ATTGTATTCAACAGCGGTGGT	0.388													10	219					0	0	0.479597	0	0	G	40774421	A	G	40774421	3	3	192	1	0	0	0	0	1	0	0	0	18126	43	2	3	2329	3	ZNF658	9	40774421	Missense_Mutation	SNP	A	TCGA-FG-6690-01A-11D-1893-08		40774421	100439010	17	24628											
TNFSF15	9966	broad.mit.edu	37	9	117552881	117552881	+	Missense_Mutation	SNP	C	C	T	rs150498686		TCGA-FG-6690-01A-11D-1893-08	TCGA-FG-6690-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68080470-9502-41cb-b0e1-786f2c3fe62a	b8e3eb49-7c11-4317-93ef-7dae88807e25	g.chr9:117552881C>T	ENST00000374045.4	-	4	720	c.607G>A	c.(607-609)Gaa>Aaa	p.E203K	TNFSF15_ENST00000374044.1_Missense_Mutation_p.E126K	NM_001204344.1|NM_005118.3	NP_001191273.1|NP_005109.2	O95150	TNF15_HUMAN	tumor necrosis factor (ligand) superfamily, member 15	203					activation of caspase activity|activation of NF-kappaB-inducing kinase activity|cytokine metabolic process|immune response	extracellular space|integral to plasma membrane	cytokine activity|tumor necrosis factor receptor binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|skin(1)	11						CTACCTACTTCGCATACAGAC	0.527													10	61					0	0	0.335167	0	0	T	117552881	C	T	117552881	3	4	192	1	0	0	0	0	1	0	0	0	16368	893	31	1	152	1	TNFSF15	9	117552881	Missense_Mutation	SNP	C	TCGA-FG-6690-01A-11D-1893-08	76778460	117552881	23660550	18	24629											
WDR5	11091	broad.mit.edu	37	9	137005847	137005847	+	Missense_Mutation	SNP	A	A	G			TCGA-FG-6690-01A-11D-1893-08	TCGA-FG-6690-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68080470-9502-41cb-b0e1-786f2c3fe62a	b8e3eb49-7c11-4317-93ef-7dae88807e25	g.chr9:137005847A>G	ENST00000358625.3	+	3	275	c.104A>G	c.(103-105)tAt>tGt	p.Y35C	WDR5_ENST00000425041.1_Missense_Mutation_p.Y35C	NM_017588.2	NP_060058.1	P61964	WDR5_HUMAN	WD repeat domain 5	35					histone H3 acetylation|histone H3-K4 methylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ada2/Gcn5/Ada3 transcription activator complex|MLL1 complex|Set1C/COMPASS complex	protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)	9		Myeloproliferative disorder(178;0.0255)|Medulloblastoma(224;0.123)		Epithelial(140;6.61e-13)|all cancers(34;5.66e-12)|OV - Ovarian serous cystadenocarcinoma(145;3.93e-08)|GBM - Glioblastoma multiforme(294;0.00326)|READ - Rectum adenocarcinoma(205;0.154)		AAGCCAAACTATGCTCTAAAG	0.507													4	297					0	0	0.184627	0	0	G	137005847	A	G	137005847	3	3	192	1	0	0	0	0	1	0	0	0	17363	449	16	3	110	3	WDR5	9	137005847	Missense_Mutation	SNP	A	TCGA-FG-6690-01A-11D-1893-08	19452966	137005847	4207584	19	24630											
ZNF33B	7582	broad.mit.edu	37	10	43089129	43089129	+	Silent	SNP	G	G	A			TCGA-FG-6690-01A-11D-1893-08	TCGA-FG-6690-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68080470-9502-41cb-b0e1-786f2c3fe62a	b8e3eb49-7c11-4317-93ef-7dae88807e25	g.chr10:43089129G>A	ENST00000359467.3	-	5	1383	c.1269C>T	c.(1267-1269)taC>taT	p.Y423Y	ZNF33B_ENST00000486187.1_RNA	NM_006955.1	NP_008886.1	Q06732	ZN33B_HUMAN	zinc finger protein 33B	423						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(15)|skin(1)|stomach(1)	29						CAGATTTCTGGTAAAAAGTTT	0.418													6	121					0	0	0.217242	0	0	A	43089129	G	A	43089129	2	1	192	1	0	0	0	0	0	0	0	1	17912	1256	44	2		2	ZNF33B	10	43089129	Silent	SNP	G	TCGA-FG-6690-01A-11D-1893-08		43089129	92445618	20	24631											
ATAD1	84896	broad.mit.edu	37	10	89536119	89536119	+	Missense_Mutation	SNP	T	T	G			TCGA-FG-6690-01A-11D-1893-08	TCGA-FG-6690-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68080470-9502-41cb-b0e1-786f2c3fe62a	b8e3eb49-7c11-4317-93ef-7dae88807e25	g.chr10:89536119T>G	ENST00000308448.7	-	6	1027	c.649A>C	c.(649-651)Atg>Ctg	p.M217L	ATAD1_ENST00000328142.3_Missense_Mutation_p.M217L|ATAD1_ENST00000541004.1_Missense_Mutation_p.M217L|ATAD1_ENST00000400215.3_Missense_Mutation_p.M159L	NM_032810.2	NP_116199.2	Q8NBU5	ATAD1_HUMAN	ATPase family, AAA domain containing 1	217						peroxisome	ATP binding|nucleoside-triphosphatase activity			kidney(1)|large_intestine(4)|lung(4)|ovary(1)	10		all_cancers(4;6.78e-12)|Prostate(4;3.56e-12)|all_epithelial(4;5.58e-09)|Melanoma(5;0.0273)|Breast(4;0.0424)|all_hematologic(4;0.0846)|Colorectal(252;0.207)|Glioma(4;0.217)|all_neural(4;0.224)		UCEC - Uterine corpus endometrioid carcinoma (6;0.00131)|GBM - Glioblastoma multiforme(1;1.1e-32)|Lung(2;1.4e-05)|LUSC - Lung squamous cell carcinoma(2;2.69e-05)|Colorectal(12;7.09e-05)|COAD - Colon adenocarcinoma(12;0.000261)|STAD - Stomach adenocarcinoma(243;0.235)		CAGAGACTCATAAACTGAGCT	0.378													11	193					0	0	0.457914	0	0	G	89536119	T	G	89536119	3	3	192	1	0	0	0	0	1	0	0	0	1069	1406	49	4	456	4	ATAD1	10	89536119	Missense_Mutation	SNP	T	TCGA-FG-6690-01A-11D-1893-08	46446990	89536119	45998628	21	24632											
NPAT	4863	broad.mit.edu	37	11	108043929	108043929	+	Silent	SNP	A	A	G			TCGA-FG-6690-01A-11D-1893-08	TCGA-FG-6690-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68080470-9502-41cb-b0e1-786f2c3fe62a	b8e3eb49-7c11-4317-93ef-7dae88807e25	g.chr11:108043929A>G	ENST00000278612.8	-	13	1887	c.1782T>C	c.(1780-1782)aaT>aaC	p.N594N	NPAT_ENST00000610253.1_5'UTR	NM_002519.2	NP_002510.2	Q14207	NPAT_HUMAN	nuclear protein, ataxia-telangiectasia locus	594					positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	protein C-terminus binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5)	46		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)		TATCTTGGCAATTTGATAGCT	0.313													9	117					0	0	0.307466	0	0	G	108043929	A	G	108043929	2	3	192	1	0	0	0	0	0	0	0	1	10613	98	4	3		3	NPAT	11	108043929	Silent	SNP	A	TCGA-FG-6690-01A-11D-1893-08		108043929	26962587	22	24633											
NCAM1	4684	broad.mit.edu	37	11	113076288	113076288	+	Silent	SNP	G	G	A			TCGA-FG-6690-01A-11D-1893-08	TCGA-FG-6690-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68080470-9502-41cb-b0e1-786f2c3fe62a	b8e3eb49-7c11-4317-93ef-7dae88807e25	g.chr11:113076288G>A	ENST00000316851.7	+	3	360	c.360G>A	c.(358-360)cgG>cgA	p.R120R	NCAM1_ENST00000533760.1_Silent_p.R12R|NCAM1_ENST00000397957.4_3'UTR|NCAM1_ENST00000401611.2_Silent_p.R129R	NM_001242607.1|NM_181351.4	NP_001229536.1|NP_851996.2	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1	130	Ig-like C2-type 2.				axon guidance|interferon-gamma-mediated signaling pathway	anchored to membrane|extracellular region|Golgi membrane|integral to membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		AGGAGTTCCGGGAGGGGGAAG	0.507													6	95					0	0	0.248553	0	0	A	113076288	G	A	113076288	2	1	192	1	0	0	0	0	0	0	0	1	10249	1219	43	2		2	NCAM1	11	113076288	Silent	SNP	G	TCGA-FG-6690-01A-11D-1893-08	5032359	113076288	21930228	23	24634											
SCN8A	6334	broad.mit.edu	37	12	52200839	52200839	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-6690-01A-11D-1893-08	TCGA-FG-6690-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68080470-9502-41cb-b0e1-786f2c3fe62a	b8e3eb49-7c11-4317-93ef-7dae88807e25	g.chr12:52200839G>A	ENST00000354534.6	+	27	5747	c.5569G>A	c.(5569-5571)Gga>Aga	p.G1857R	SCN8A_ENST00000545061.1_Missense_Mutation_p.G1816R	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit						axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Lamotrigine(DB00555)	GCGGGTCCTGGGAGATAGCGG	0.547													8	186					0	0	0.335167	0	0	A	52200839	G	A	52200839	3	1	192	1	0	0	0	0	1	0	0	0	13978	1233	43	2	5671	2	SCN8A	12	52200839	Missense_Mutation	SNP	G	TCGA-FG-6690-01A-11D-1893-08		52200839	81651056	24	24635											
KRT76	51350	broad.mit.edu	37	12	53169301	53169301	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-6690-01A-11D-1893-08	TCGA-FG-6690-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68080470-9502-41cb-b0e1-786f2c3fe62a	b8e3eb49-7c11-4317-93ef-7dae88807e25	g.chr12:53169301C>T	ENST00000332411.2	-	2	739	c.686G>A	c.(685-687)aGc>aAc	p.S229N		NM_015848.4	NP_056932.2	Q01546	K22O_HUMAN	keratin 76	229	Linker 1.|Rod.				cytoskeleton organization	keratin filament	structural molecule activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						AGGCTCCAGGCTGCTGGGCCC	0.557													75	99					0	0	0.870114	0	0	T	53169301	C	T	53169301	3	4	192	1	0	0	0	0	1	0	0	0	8532	797	28	2	1262	2	KRT76	12	53169301	Missense_Mutation	SNP	C	TCGA-FG-6690-01A-11D-1893-08	968462	53169301	80682594	25	24636											
CCNB1IP1	57820	broad.mit.edu	37	14	20779861	20779861	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-6690-01A-11D-1893-08	TCGA-FG-6690-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68080470-9502-41cb-b0e1-786f2c3fe62a	b8e3eb49-7c11-4317-93ef-7dae88807e25	g.chr14:20779861C>T	ENST00000398169.3	-	7	1298	c.682G>A	c.(682-684)Gat>Aat	p.D228N	CCNB1IP1_ENST00000353689.4_Missense_Mutation_p.D228N|CCNB1IP1_ENST00000437553.2_Missense_Mutation_p.D228N|CCNB1IP1_ENST00000398160.2_Missense_Mutation_p.D228N|CCNB1IP1_ENST00000398163.2_Missense_Mutation_p.D228N|CCNB1IP1_ENST00000358932.4_Missense_Mutation_p.D228N			Q9NPC3	CIP1_HUMAN	cyclin B1 interacting protein 1, E3 ubiquitin protein ligase	228						chromosome|nucleus	ligase activity|metal ion binding|protein binding	p.D228N(1)	HMGA2/CCNB1IP1(2)	breast(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	9	all_cancers(95;0.00092)	all_lung(585;0.235)	Epithelial(56;8.86e-07)|all cancers(55;4.98e-06)	GBM - Glioblastoma multiforme(265;0.0164)		CCATCTCCATCGCCCCGATTT	0.398			T	HMGA2	leiomyoma								8	101					0	0	0.307466	0	0	T	20779861	C	T	20779861	3	4	192	1	0	0	0	0	1	0	0	0	2934	884	31	1	155	1	CCNB1IP1	14	20779861	Missense_Mutation	SNP	C	TCGA-FG-6690-01A-11D-1893-08		20779861	86569679	26	24637											
REM2	161253	broad.mit.edu	37	14	23354069	23354069	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-6690-01A-11D-1893-08	TCGA-FG-6690-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68080470-9502-41cb-b0e1-786f2c3fe62a	b8e3eb49-7c11-4317-93ef-7dae88807e25	g.chr14:23354069C>T	ENST00000267396.4	+	2	413	c.290C>T	c.(289-291)tCg>tTg	p.S97L	REM2_ENST00000536884.1_Missense_Mutation_p.S97L	NM_173527.2	NP_775798.2	Q8IYK8	REM2_HUMAN	RAS (RAD and GEM)-like GTP binding 2	97					regulation of transcription, DNA-dependent|small GTPase mediated signal transduction	intracellular|plasma membrane	ATP binding|GTP binding|transcription factor binding			breast(1)|central_nervous_system(1)|large_intestine(2)|ovary(1)	5	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.012)		TCCTCTGGCTCGTCTGACTCC	0.612													11	82					0	0	0.435327	0	0	T	23354069	C	T	23354069	3	4	192	1	0	0	0	0	1	0	0	0	13275	893	31	1	296	1	REM2	14	23354069	Missense_Mutation	SNP	C	TCGA-FG-6690-01A-11D-1893-08	2574208	23354069	83995471	27	24638											
ARF6	382	broad.mit.edu	37	14	50360497	50360497	+	Missense_Mutation	SNP	C	C	T	rs61754359		TCGA-FG-6690-01A-11D-1893-08	TCGA-FG-6690-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68080470-9502-41cb-b0e1-786f2c3fe62a	b8e3eb49-7c11-4317-93ef-7dae88807e25	g.chr14:50360497C>T	ENST00000298316.5	+	2	590	c.43C>T	c.(43-45)Cgg>Tgg	p.R15W		NM_001663.3	NP_001654.1	P62330	ARF6_HUMAN	ADP-ribosylation factor 6	15					cell adhesion|cellular component movement|cortical actin cytoskeleton organization|negative regulation of receptor-mediated endocytosis|positive regulation of actin filament polymerization|positive regulation of establishment of protein localization in plasma membrane|protein localization at cell surface|protein transport|regulation of dendritic spine development|regulation of filopodium assembly|regulation of Rac protein signal transduction|ruffle organization|small GTPase mediated signal transduction|vesicle-mediated transport	cell cortex|endosome membrane|filopodium membrane|Golgi apparatus|membrane fraction|ruffle	GTP binding|GTPase activity|thioesterase binding			endometrium(1)|kidney(1)|large_intestine(1)|ovary(1)	4	all_epithelial(31;0.000822)|Breast(41;0.0117)					CAAGGAAATGCGGATCCTCAT	0.597													4	139					0	0	0.184627	0	0	T	50360497	C	T	50360497	3	4	192	1	0	0	0	0	1	0	0	0	845	759	27	1	45	1	ARF6	14	50360497	Missense_Mutation	SNP	C	TCGA-FG-6690-01A-11D-1893-08	27006428	50360497	56989043	28	24639											
NID2	22795	broad.mit.edu	37	14	52520997	52520997	+	Silent	SNP	G	G	A			TCGA-FG-6690-01A-11D-1893-08	TCGA-FG-6690-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68080470-9502-41cb-b0e1-786f2c3fe62a	b8e3eb49-7c11-4317-93ef-7dae88807e25	g.chr14:52520997G>A	ENST00000216286.5	-	4	809	c.810C>T	c.(808-810)atC>atT	p.I270I	NID2_ENST00000541773.1_Silent_p.I217I	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	270	NIDO.					basement membrane	calcium ion binding|collagen binding			NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					AAGTGCTGCCGATATGGAAAG	0.502													4	62					0	0	0.184627	0	0	A	52520997	G	A	52520997	2	1	192	1	0	0	0	0	0	0	0	1	10462	1048	37	1		1	NID2	14	52520997	Silent	SNP	G	TCGA-FG-6690-01A-11D-1893-08	2160500	52520997	54828543	29	24640											
CDC42BPB	9578	broad.mit.edu	37	14	103430859	103430859	+	Silent	SNP	G	G	A			TCGA-FG-6690-01A-11D-1893-08	TCGA-FG-6690-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68080470-9502-41cb-b0e1-786f2c3fe62a	b8e3eb49-7c11-4317-93ef-7dae88807e25	g.chr14:103430859G>A	ENST00000361246.2	-	19	2994	c.2706C>T	c.(2704-2706)gaC>gaT	p.D902D		NM_006035.3	NP_006026.3	Q9Y5S2	MRCKB_HUMAN	CDC42 binding protein kinase beta (DMPK-like)	902					actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		TGAGGTTGGCGTCCTTGACCT	0.652													13	51					0	0	0.479597	0	0	A	103430859	G	A	103430859	2	1	192	1	0	0	0	0	0	0	0	1	3095	1136	40	1		1	CDC42BPB	14	103430859	Silent	SNP	G	TCGA-FG-6690-01A-11D-1893-08	50909862	103430859	3918681	30	24641											
NDN	4692	broad.mit.edu	37	15	23932264	23932264	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-6690-01A-11D-1893-08	TCGA-FG-6690-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68080470-9502-41cb-b0e1-786f2c3fe62a	b8e3eb49-7c11-4317-93ef-7dae88807e25	g.chr15:23932264G>A	ENST00000331837.4	-	1	186	c.101C>T	c.(100-102)cCg>cTg	p.P34L		NM_002487.2	NP_002478.1	Q99608	NECD_HUMAN	necdin, melanoma antigen (MAGE) family member	34					negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perikaryon	DNA binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|skin(1)	39		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		GGTCGCGGACGGAGGAACCCC	0.692									Prader-Willi syndrome				6	26					0	0	0.248553	0	0	A	23932264	G	A	23932264	3	1	192	1	0	0	0	0	1	0	0	0	10294	1116	39	1	868	1	NDN	15	23932264	Missense_Mutation	SNP	G	TCGA-FG-6690-01A-11D-1893-08		23932264	78599128	31	24642											
FBN1	2200	broad.mit.edu	37	15	48773871	48773871	+	Silent	SNP	T	T	C			TCGA-FG-6690-01A-11D-1893-08	TCGA-FG-6690-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68080470-9502-41cb-b0e1-786f2c3fe62a	b8e3eb49-7c11-4317-93ef-7dae88807e25	g.chr15:48773871T>C	ENST00000316623.5	-	32	4400	c.3945A>G	c.(3943-3945)aaA>aaG	p.K1315K		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	1315	EGF-like 21; calcium-binding.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		CAGTTTTTCCTTTTTTGCCGG	0.363													3	134					0	0	0.150653	0	0	C	48773871	T	C	48773871	2	2	192	1	0	0	0	0	0	0	0	1	5735	1606	56	3		3	FBN1	15	48773871	Silent	SNP	T	TCGA-FG-6690-01A-11D-1893-08	24841607	48773871	53757521	32	24643											
ITGA11	22801	broad.mit.edu	37	15	68643096	68643096	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-6690-01A-11D-1893-08	TCGA-FG-6690-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68080470-9502-41cb-b0e1-786f2c3fe62a	b8e3eb49-7c11-4317-93ef-7dae88807e25	g.chr15:68643096C>T	ENST00000423218.2	-	9	1014	c.919G>A	c.(919-921)Ggg>Agg	p.G307R	ITGA11_ENST00000315757.7_Missense_Mutation_p.G307R			Q9UKX5	ITA11_HUMAN	integrin, alpha 11	307	VWFA.				cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development	integrin complex	collagen binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52					Tirofiban(DB00775)	GGATTGATCCCCCTGCGGTTG	0.502													26	75					0	0	0.693898	0	0	T	68643096	C	T	68643096	3	4	192	1	0	0	0	0	1	0	0	0	7918	623	22	2	2735	2	ITGA11	15	68643096	Missense_Mutation	SNP	C	TCGA-FG-6690-01A-11D-1893-08	19869225	68643096	33888296	33	24644											
ATXN2L	11273	broad.mit.edu	37	16	28846974	28846974	+	Silent	SNP	T	T	C			TCGA-FG-6690-01A-11D-1893-08	TCGA-FG-6690-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68080470-9502-41cb-b0e1-786f2c3fe62a	b8e3eb49-7c11-4317-93ef-7dae88807e25	g.chr16:28846974T>C	ENST00000336783.4	+	21	2957	c.2790T>C	c.(2788-2790)ccT>ccC	p.P930P	RP11-24N18.1_ENST00000563565.1_RNA|ATXN2L_ENST00000395547.2_Silent_p.P930P|ATXN2L_ENST00000564304.1_Silent_p.P936P|ATXN2L_ENST00000340394.8_Silent_p.P930P|ATXN2L_ENST00000325215.6_Silent_p.P930P|ATXN2L_ENST00000382686.4_Silent_p.P930P|ATXN2L_ENST00000570200.1_Silent_p.P930P	NM_007245.3	NP_009176.2	Q8WWM7	ATX2L_HUMAN	ataxin 2-like	930						membrane				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						CACCGGGACCTTCTGCCCAGT	0.662													8	69					0	0	0.335167	0	0	C	28846974	T	C	28846974	2	2	192	1	0	0	0	0	0	0	0	1	1210	1596	56	3		3	ATXN2L	16	28846974	Silent	SNP	T	TCGA-FG-6690-01A-11D-1893-08		28846974	61507779	34	24645											
ADCY7	113	broad.mit.edu	37	16	50339454	50339454	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-6690-01A-11D-1893-08	TCGA-FG-6690-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68080470-9502-41cb-b0e1-786f2c3fe62a	b8e3eb49-7c11-4317-93ef-7dae88807e25	g.chr16:50339454G>A	ENST00000394697.2	+	13	1976	c.1636G>A	c.(1636-1638)Gat>Aat	p.D546N	ADCY7_ENST00000566433.2_Missense_Mutation_p.D546N|ADCY7_ENST00000538642.1_Missense_Mutation_p.D546N|ADCY7_ENST00000254235.3_Missense_Mutation_p.D546N|ADCY7_ENST00000537579.1_Intron			P51828	ADCY7_HUMAN	adenylate cyclase 7	546					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to ethanol|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of cAMP biosynthetic process|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	35		all_cancers(37;0.0127)		GBM - Glioblastoma multiforme(240;0.195)	Bromocriptine(DB01200)	TGACTCGTACGATGACGAGAT	0.607													5	216					0	0	0.217242	0	0	A	50339454	G	A	50339454	3	1	192	1	0	0	0	0	1	0	0	0	298	1058	37	1	1682	1	ADCY7	16	50339454	Missense_Mutation	SNP	G	TCGA-FG-6690-01A-11D-1893-08	21492480	50339454	40015299	35	24646											
TP53	7157	broad.mit.edu	37	17	7577568	7577568	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-6690-01A-11D-1893-08	TCGA-FG-6690-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68080470-9502-41cb-b0e1-786f2c3fe62a	b8e3eb49-7c11-4317-93ef-7dae88807e25	g.chr17:7577568C>T	ENST00000420246.2	-	7	845	c.713G>A	c.(712-714)tGt>tAt	p.C238Y	TP53_ENST00000269305.4_Missense_Mutation_p.C238Y|TP53_ENST00000359597.4_Missense_Mutation_p.C238Y|TP53_ENST00000445888.2_Missense_Mutation_p.C238Y|TP53_ENST00000455263.2_Missense_Mutation_p.C238Y|TP53_ENST00000413465.2_Missense_Mutation_p.C238Y	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	238	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).		C -> F (in sporadic cancers; somatic mutation).|C -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|C -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.C238Y(65)|p.C238F(46)|p.C238S(9)|p.0?(8)|p.?(5)|p.C145F(5)|p.C145Y(5)|p.M237_N239delMCN(4)|p.C238fs*21(1)|p.M237fs*1(1)|p.M144_N146delMCN(1)|p.C238del(1)|p.Y236_M243delYMCNSSCM(1)|p.V225fs*23(1)|p.H233fs*6(1)|p.C238_M246delCNSSCMGGM(1)|p.H233_C242del10(1)|p.N239_C242del(1)|p.C145S(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)		GGAACTGTTACACATGTAGTT	0.572		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)			39	60					0	0	0.853193	0	0	T	7577568	C	T	7577568	3	4	192	1	0	0	0	0	1	0	0	0	16442	478	17	2	577	2	TP53	17	7577568	Missense_Mutation	SNP	C	TCGA-FG-6690-01A-11D-1893-08		7577568	73617642	36	24647											
TP53	7157	broad.mit.edu	37	17	7578263	7578263	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FG-6690-01A-11D-1893-08	TCGA-FG-6690-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68080470-9502-41cb-b0e1-786f2c3fe62a	b8e3eb49-7c11-4317-93ef-7dae88807e25	g.chr17:7578263G>A	ENST00000420246.2	-	6	718	c.586C>T	c.(586-588)Cga>Tga	p.R196*	TP53_ENST00000269305.4_Nonsense_Mutation_p.R196*|TP53_ENST00000359597.4_Nonsense_Mutation_p.R196*|TP53_ENST00000445888.2_Nonsense_Mutation_p.R196*|TP53_ENST00000455263.2_Nonsense_Mutation_p.R196*|TP53_ENST00000413465.2_Nonsense_Mutation_p.R196*|TP53_ENST00000574684.1_Intron	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	196	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (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.R196*(167)|p.R64*(14)|p.R103*(14)|p.0?(8)|p.R196fs*51(7)|p.?(5)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.R196R(2)|p.I195fs*50(1)|p.R64fs*>27(1)|p.R103fs*51(1)|p.P191fs*6(1)|p.I195_G199delIRVEG(1)|p.P98_E105>Q(1)|p.I195fs*12(1)|p.P59_E66>Q(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)		CCTTCCACTCGGATAAGATGC	0.552		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)			24	31					0	0	0.681144	0	0	A	7578263	G	A	7578263	4	1	192	1	0	0	0	0	0	1	0	0	16442	1124	39	1	708	1	TP53	17	7578263	Nonsense_Mutation	SNP	G	TCGA-FG-6690-01A-11D-1893-08	695	7578263	73616947	37	24648											
MYH2	4620	broad.mit.edu	37	17	10451106	10451106	+	Missense_Mutation	SNP	T	T	A			TCGA-FG-6690-01A-11D-1893-08	TCGA-FG-6690-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68080470-9502-41cb-b0e1-786f2c3fe62a	b8e3eb49-7c11-4317-93ef-7dae88807e25	g.chr17:10451106T>A	ENST00000245503.5	-	3	516	c.132A>T	c.(130-132)aaA>aaT	p.K44N	MYH2_ENST00000397183.2_Missense_Mutation_p.K44N|CTC-297N7.11_ENST00000587182.2_RNA|MYH2_ENST00000532183.2_Missense_Mutation_p.K44N	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	44	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						CAAAGGATTCTTTGGGCTCCG	0.537													81	112					0	0	0.870114	0	0	A	10451106	T	A	10451106	3	1	192	1	0	0	0	0	1	0	0	0	10083	1606	56	5	5845	5	MYH2	17	10451106	Missense_Mutation	SNP	T	TCGA-FG-6690-01A-11D-1893-08	2872843	10451106	70744104	38	24649											
BPTF	2186	broad.mit.edu	37	17	65899913	65899913	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-6690-01A-11D-1893-08	TCGA-FG-6690-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68080470-9502-41cb-b0e1-786f2c3fe62a	b8e3eb49-7c11-4317-93ef-7dae88807e25	g.chr17:65899913G>A	ENST00000321892.4	+	10	2991	c.2930G>A	c.(2929-2931)cGg>cAg	p.R977Q	BPTF_ENST00000335221.5_Missense_Mutation_p.R977Q|BPTF_ENST00000424123.3_Missense_Mutation_p.R838Q|BPTF_ENST00000306378.6_Missense_Mutation_p.R851Q			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	977					brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			AGGTTACACCGGATGACATCA	0.323													5	44					0	0	0.184627	0	0	A	65899913	G	A	65899913	3	1	192	1	0	0	0	0	1	0	0	0	1497	1116	39	1	2968	1	BPTF	17	65899913	Missense_Mutation	SNP	G	TCGA-FG-6690-01A-11D-1893-08	55448807	65899913	15295297	39	24650											
RIOK3	8780	broad.mit.edu	37	18	21057190	21057190	+	Missense_Mutation	SNP	C	C	A	rs56187215		TCGA-FG-6690-01A-11D-1893-08	TCGA-FG-6690-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68080470-9502-41cb-b0e1-786f2c3fe62a	b8e3eb49-7c11-4317-93ef-7dae88807e25	g.chr18:21057190C>A	ENST00000339486.3	+	11	1919	c.1302C>A	c.(1300-1302)caC>caA	p.H434Q	RIOK3_ENST00000577501.1_Missense_Mutation_p.H434Q|RIOK3_ENST00000581585.1_Missense_Mutation_p.H418Q	NM_003831.3	NP_003822.2	O14730	RIOK3_HUMAN	RIO kinase 3	434	Protein kinase.				chromosome segregation		ATP binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(3)|ovary(2)	10	all_cancers(21;0.000106)|all_epithelial(16;6.74e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0202)|Ovarian(20;0.127)					CCCACCCTCACGGCCTGGAGT	0.413													49	63					1.48341e-19	1.67795e-19	0.870114	1	0	A	21057190	C	A	21057190	3	1	192	1	0	0	0	0	1	0	0	0	13431	535	19	5	1344	5	RIOK3	18	21057190	Missense_Mutation	SNP	C	TCGA-FG-6690-01A-11D-1893-08		21057190	57020058	40	24651											
C19orf26	255057	broad.mit.edu	37	19	1235018	1235018	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-6690-01A-11D-1893-08	TCGA-FG-6690-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68080470-9502-41cb-b0e1-786f2c3fe62a	b8e3eb49-7c11-4317-93ef-7dae88807e25	g.chr19:1235018G>A	ENST00000590083.1	-	5	729	c.437C>T	c.(436-438)aCg>aTg	p.T146M	C19orf26_ENST00000382477.2_Missense_Mutation_p.T140M|C19orf26_ENST00000215376.6_Missense_Mutation_p.T140M			Q8N350	DOS_HUMAN	chromosome 19 open reading frame 26	140						integral to membrane				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	9		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|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)		CTTGTCCTGCGTCTTGCGGCT	0.701										HNSCC(14;0.022)			5	42					0	0	0.217242	0	0	A	1235018	G	A	1235018	3	1	192	1	0	0	0	0	1	0	0	0	1928	1145	40	1	944	1	C19orf26	19	1235018	Missense_Mutation	SNP	G	TCGA-FG-6690-01A-11D-1893-08		1235018	57893965	41	24652											
MUC16	94025	broad.mit.edu	37	19	9086351	9086351	+	Missense_Mutation	SNP	T	T	A			TCGA-FG-6690-01A-11D-1893-08	TCGA-FG-6690-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68080470-9502-41cb-b0e1-786f2c3fe62a	b8e3eb49-7c11-4317-93ef-7dae88807e25	g.chr19:9086351T>A	ENST00000397910.4	-	1	5667	c.5464A>T	c.(5464-5466)Act>Tct	p.T1822S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1822	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ATTGATGGAGTTGGAGATGGA	0.483													8	123					0	0	0.307466	0	0	A	9086351	T	A	9086351	3	1	192	1	0	0	0	0	1	0	0	0	10021	1725	60	5	38395	5	MUC16	19	9086351	Missense_Mutation	SNP	T	TCGA-FG-6690-01A-11D-1893-08	7851333	9086351	50042632	42	24653											
SMARCA4	6597	broad.mit.edu	37	19	11098500	11098500	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-6690-01A-11D-1893-08	TCGA-FG-6690-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68080470-9502-41cb-b0e1-786f2c3fe62a	b8e3eb49-7c11-4317-93ef-7dae88807e25	g.chr19:11098500G>A	ENST00000358026.2	+	6	1302	c.1018G>A	c.(1018-1020)Gcg>Acg	p.A340T	SMARCA4_ENST00000589677.1_Missense_Mutation_p.A340T|SMARCA4_ENST00000450717.3_Missense_Mutation_p.A340T|SMARCA4_ENST00000344626.4_Missense_Mutation_p.A340T|SMARCA4_ENST00000590574.1_Missense_Mutation_p.A340T|SMARCA4_ENST00000541122.2_Missense_Mutation_p.A340T|SMARCA4_ENST00000429416.3_Missense_Mutation_p.A340T|SMARCA4_ENST00000444061.3_Missense_Mutation_p.A340T|SMARCA4_ENST00000413806.3_Missense_Mutation_p.A340T	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	340					chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				GGCCCAGCCCGCGCCCATGGT	0.746			"F, N, Mis"		NSCLC								11	6					0	0	0.38729	0	0	A	11098500	G	A	11098500	3	1	192	1	0	0	0	0	1	0	0	0	14824	1087	38	1	1036	1	SMARCA4	19	11098500	Missense_Mutation	SNP	G	TCGA-FG-6690-01A-11D-1893-08	2012149	11098500	48030483	43	24654											
ATP4A	495	broad.mit.edu	37	19	36054521	36054521	+	Splice_Site	SNP	G	G	A			TCGA-FG-6690-01A-11D-1893-08	TCGA-FG-6690-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68080470-9502-41cb-b0e1-786f2c3fe62a	b8e3eb49-7c11-4317-93ef-7dae88807e25	g.chr19:36054521G>A	ENST00000262623.3	-	1	39	c.11C>T	c.(10-12)gCc>gTc	p.A4V		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	4					ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)	CCCACTCACGGCCTTCCCCAT	0.652													9	41					0	0	0.307466	0	0	A	36054521	G	A	36054521	5	1	192	1	0	0	0	0	0	0	1	0	1144	1217	42	2	3184	2	ATP4A	19	36054521	Splice_Site	SNP	G	TCGA-FG-6690-01A-11D-1893-08	24956021	36054521	23074462	44	24655											
CBLN4	140689	broad.mit.edu	37	20	54573805	54573805	+	Silent	SNP	G	G	A			TCGA-FG-6690-01A-11D-1893-08	TCGA-FG-6690-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68080470-9502-41cb-b0e1-786f2c3fe62a	b8e3eb49-7c11-4317-93ef-7dae88807e25	g.chr20:54573805G>A	ENST00000064571.2	-	3	1714	c.414C>T	c.(412-414)aaC>aaT	p.N138N		NM_080617.5	NP_542184.1	Q9NTU7	CBLN4_HUMAN	cerebellin 4 precursor	138	C1q.					cell junction|extracellular region|synapse				endometrium(2)|large_intestine(1)|lung(10)|ovary(3)|pancreas(1)	17			Colorectal(105;0.202)			TTAACATCAAGTTAACCTAGA	0.363													3	42					0	0	0.150653	0	0	A	54573805	G	A	54573805	2	1	192	1	0	0	0	0	0	0	0	1	2725	1020	36	2		2	CBLN4	20	54573805	Silent	SNP	G	TCGA-FG-6690-01A-11D-1893-08		54573805	8451715	45	24656											
ZNF831	128611	broad.mit.edu	37	20	57769660	57769660	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-6690-01A-11D-1893-08	TCGA-FG-6690-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68080470-9502-41cb-b0e1-786f2c3fe62a	b8e3eb49-7c11-4317-93ef-7dae88807e25	g.chr20:57769660G>A	ENST00000371030.2	+	1	3586	c.3586G>A	c.(3586-3588)Gcg>Acg	p.A1196T		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1196						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					CCCTCTGCCCGCGGAGCAGAA	0.637													25	24					0	0	0.654019	0	0	A	57769660	G	A	57769660	3	1	192	1	0	0	0	0	1	0	0	0	18232	1087	38	1	3588	1	ZNF831	20	57769660	Missense_Mutation	SNP	G	TCGA-FG-6690-01A-11D-1893-08	3195855	57769660	5255860	46	24657											
ATRX	546	broad.mit.edu	37	X	76939522	76939522	+	Nonsense_Mutation	SNP	A	A	T	rs122445109		TCGA-FG-6690-01A-11D-1893-08	TCGA-FG-6690-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68080470-9502-41cb-b0e1-786f2c3fe62a	b8e3eb49-7c11-4317-93ef-7dae88807e25	g.chrX:76939522A>T	ENST00000373344.5	-	9	1440	c.1226T>A	c.(1225-1227)tTg>tAg	p.L409*	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Nonsense_Mutation_p.L371*	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	409			L -> S (in MRXSHF1).		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)	GTCTTCTTCCAATGCAAGATG	0.363			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						219	56					0	0	0.870114	0	0	T	76939522	A	T	76939522	4	4	192	1	0	0	0	0	0	1	0	0	1206	131	5	5	6360	5	ATRX	23	76939522	Nonsense_Mutation	SNP	A	TCGA-FG-6690-01A-11D-1893-08		76939522	78331038	47	24658											
TCEAL6	158931	broad.mit.edu	37	X	101395952	101395952	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-6690-01A-11D-1893-08	TCGA-FG-6690-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68080470-9502-41cb-b0e1-786f2c3fe62a	b8e3eb49-7c11-4317-93ef-7dae88807e25	g.chrX:101395952T>C	ENST00000372774.3	-	3	601	c.352A>G	c.(352-354)Acg>Gcg	p.T118A	TCEAL6_ENST00000372773.1_Missense_Mutation_p.T118A	NM_001006938.2	NP_001006939.2	Q6IPX3	TCAL6_HUMAN	transcription elongation factor A (SII)-like 6	118					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	14						GAATCGTCCGTCCCCCTGTCT	0.577													3	99					0	0	0.115264	0	0	C	101395952	T	C	101395952	3	2	192	1	0	0	0	0	1	0	0	0	15735	1667	58	3	203	3	TCEAL6	23	101395952	Missense_Mutation	SNP	T	TCGA-FG-6690-01A-11D-1893-08	24456430	101395952	53874608	48	24659											
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	0.766													3	21					0	0	0.00116845	0	0	G	35334404	T	G	35334404	3	3	193	1	0	0	0	0	1	0	0	0	4589	1696	59	5	668	5	DLGAP3	1	35334404	Missense_Mutation	SNP	T	TCGA-FG-6691-01A-11D-1893-08		35334404	213916217	1	24660											
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_ENST00000372583.1_Missense_Mutation_p.T459M|HIVEP3_ENST00000247584.5_Missense_Mutation_p.T459M|HIVEP3_ENST00000429157.2_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	0.637													12	48					0	0	0.000978159	0	0	A	42049093	G	A	42049093	3	1	193	1	0	0	0	0	1	0	0	0	7229	1145	40	1	5868	1	HIVEP3	1	42049093	Missense_Mutation	SNP	G	TCGA-FG-6691-01A-11D-1893-08	6714689	42049093	207201528	2	24661											
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_ENST00000401530.1_Missense_Mutation_p.T386M|VIT_ENST00000404084.1_Missense_Mutation_p.T359M|VIT_ENST00000497382.1_Missense_Mutation_p.T76M|VIT_ENST00000379241.3_Missense_Mutation_p.T385M|VIT_ENST00000389975.3_Missense_Mutation_p.T407M	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	0.502													16	85					0	0	0.00400662	0	0	T	37032683	C	T	37032683	3	4	193	1	0	0	0	0	1	0	0	0	17231	536	19	1	1440	1	VIT	2	37032683	Missense_Mutation	SNP	C	TCGA-FG-6691-01A-11D-1893-08		37032683	206166690	3	24662											
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_ENST00000398823.2_3'UTR|DYNC2LI1_ENST00000605786.1_Missense_Mutation_p.K140R|DYNC2LI1_ENST00000406852.3_Missense_Mutation_p.K140R|DYNC2LI1_ENST00000443170.3_Missense_Mutation_p.K14R|DYNC2LI1_ENST00000489222.2_3'UTR	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	0.408													4	65					0	0	0.000602214	0	0	G	44021694	A	G	44021694	3	3	193	1	0	0	0	0	1	0	0	0	4873	14	1	3	441	3	DYNC2LI1	2	44021694	Missense_Mutation	SNP	A	TCGA-FG-6691-01A-11D-1893-08	6989011	44021694	199177679	4	24663											
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_ENST00000446179.1_Missense_Mutation_p.R132S|IDH1_ENST00000345146.2_Missense_Mutation_p.R132S	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		TAAGCATGACGACCTATGATG	0.398			Mis		gliobastoma								20	39					1.10923e-09	5.40147e-09	0.00278032	1	0	T	209113113	G	T	209113113	3	4	193	1	0	0	0	0	1	0	0	0	7538	1058	37	5	878	5	IDH1	2	209113113	Missense_Mutation	SNP	G	TCGA-FG-6691-01A-11D-1893-08	165091419	209113113	34086260	5	24664											
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_ENST00000535426.1_Missense_Mutation_p.T80A|MAP3K13_ENST00000443863.1_Missense_Mutation_p.T80A|MAP3K13_ENST00000446828.1_Missense_Mutation_p.T17A|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	0.363													3	59					0	0	6.4e-05	0	0	G	185161243	A	G	185161243	3	3	193	1	0	0	0	0	1	0	0	0	9297	391	14	3	680	3	MAP3K13	3	185161243	Missense_Mutation	SNP	A	TCGA-FG-6691-01A-11D-1893-08		185161243	12861187	6	24665											
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	0.358													5	69					0	0	0.000602214	0	0	A	71347534	G	A	71347534	3	1	193	1	0	0	0	0	1	0	0	0	10029	1058	37	1	1079	1	MUC7	4	71347534	Missense_Mutation	SNP	G	TCGA-FG-6691-01A-11D-1893-08		71347534	119806742	7	24666											
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	0.542													7	68					0	0	0.00198382	0	0	T	70853295	C	T	70853295	3	4	193	1	0	0	0	0	1	0	0	0	17324	893	31	1	507	1	WBSCR17	7	70853295	Missense_Mutation	SNP	C	TCGA-FG-6691-01A-11D-1893-08		70853295	88285368	8	24667											
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	0.363													16	41					0	0	0.00400662	0	0	C	12595574	T	C	12595574	3	2	193	1	0	0	0	0	1	0	0	0	8939	1841	64	3	1314	3	LONRF1	8	12595574	Missense_Mutation	SNP	T	TCGA-FG-6691-01A-11D-1893-08		12595574	133768448	9	24668											
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	MMP16_ENST00000544227.1_5'UTR|RP11-586K2.1_ENST00000523254.1_RNA	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	0.507													3	104					0	0	0.00024832	0	0	G	89339322	C	G	89339322	3	3	193	1	0	0	0	0	1	0	0	0	9703	796	28	4	1905	4	MMP16	8	89339322	Missense_Mutation	SNP	C	TCGA-FG-6691-01A-11D-1893-08	76743748	89339322	57024700	10	24669											
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_ENST00000543145.2_Missense_Mutation_p.P160L|SEMA7A_ENST00000542748.1_Missense_Mutation_p.P9L	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	0.612													15	33					0	0	0.00074312	0	0	A	74709961	G	A	74709961	3	1	193	1	0	0	0	0	1	0	0	0	14097	1116	39	1	1519	1	SEMA7A	15	74709961	Missense_Mutation	SNP	G	TCGA-FG-6691-01A-11D-1893-08		74709961	27821431	11	24670											
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)gccatcdel	p.AI161del	TP53_ENST00000445888.2_In_Frame_Del_p.AI161del|TP53_ENST00000359597.4_In_Frame_Del_p.AI161del|TP53_ENST00000413465.2_In_Frame_Del_p.AI161del|TP53_ENST00000455263.2_In_Frame_Del_p.AI161del|TP53_ENST00000269305.4_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	---	---	---	---						-	7578449	GATGGC	-	7578444	7	5	193	1	0	1	0	1	0	0	0	0	16442	932	33	0	812	0	TP53	17	7578444	In_Frame_Del	DEL	GATGGC	TCGA-FG-6691-01A-11D-1893-08		7578444	73616766	12	24671											
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	TSPAN16_ENST00000590327.1_Silent_p.T171T|TSPAN16_ENST00000592955.1_Silent_p.T146T|CTC-510F12.4_ENST00000586356.1_RNA	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	0.488													5	65					0	0	0.00198382	0	0	A	11417342	G	A	11417342	2	1	193	1	0	0	0	0	0	0	0	1	16701	1103	39	1		1	TSPAN16	19	11417342	Silent	SNP	G	TCGA-FG-6691-01A-11D-1893-08		11417342	47711641	13	24672											
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	0.498													10	381					0	0	0.00185496	0	0	A	15852474	G	A	15852474	3	1	193	1	0	0	0	0	1	0	0	0	10955	1145	40	1	274	1	OR10H3	19	15852474	Missense_Mutation	SNP	G	TCGA-FG-6691-01A-11D-1893-08	4435132	15852474	43276509	14	24673											
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)aaactgfs	p.L359fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Ins_p.L321fs	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	359					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	---	---	---	---						T	76939674	-	T	76939673	7	5	193	1	0	1	1	0	0	0	0	0	1206	1020	36	0	6511	0	ATRX	23	76939673	Frame_Shift_Ins	INS	-	TCGA-FG-6691-01A-11D-1893-08		76939673	78330887	15	24674											
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	GPRASP1_ENST00000415986.1_Missense_Mutation_p.R337P|GPRASP1_ENST00000361600.5_Missense_Mutation_p.R337P|RP4-769N13.7_ENST00000602441.1_RNA|GPRASP1_ENST00000444152.1_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	0.478													5	107					0	0	0.00116845	0	0	C	101909851	G	C	101909851	3	2	193	1	0	0	0	0	1	0	0	0	6763	1058	37	5	1012	5	GPRASP1	23	101909851	Missense_Mutation	SNP	G	TCGA-FG-6691-01A-11D-1893-08	24970178	101909851	53360709	16	24675											
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	GPRASP1_ENST00000415986.1_Missense_Mutation_p.D593H|GPRASP1_ENST00000361600.5_Missense_Mutation_p.D593H|RP4-769N13.7_ENST00000602441.1_RNA|GPRASP1_ENST00000444152.1_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	0.507													3	134					0	0	6.4e-05	0	0	C	101910618	G	C	101910618	3	2	193	1	0	0	0	0	1	0	0	0	6763	1174	41	5	1779	5	GPRASP1	23	101910618	Missense_Mutation	SNP	G	TCGA-FG-6691-01A-11D-1893-08	767	101910618	53359942	17	24676											
ELTD1	64123	broad.mit.edu	37	1	79392754	79392754	+	Silent	SNP	T	T	A			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr1:79392754T>A	ENST00000370742.3	-	8	963	c.900A>T	c.(898-900)gtA>gtT	p.V300V		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	300			V -> L (in dbSNP:rs12754818).		neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		TCTTATAATATACAAATGCAA	0.274													24	44					0	0	0.083992	0	0	A	79392754	T	A	79392754	2	1	194	1	0	0	0	0	0	0	0	1	5112	1393	49	4		4	ELTD1	1	79392754	Silent	SNP	T	TCGA-FG-6692-01A-11D-1893-08		79392754	169857867	1	24677											
ABCA4	24	broad.mit.edu	37	1	94486937	94486937	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr1:94486937G>A	ENST00000370225.3	-	35	4963	c.4877C>T	c.(4876-4878)gCc>gTc	p.A1626V		NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	1626					phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		GCTGACCAGGGCATGCCAGCC	0.517													4	167					0	0	0.009096	0	0	A	94486937	G	A	94486937	3	1	194	1	0	0	0	0	1	0	0	0	34	1203	42	2	2008	2	ABCA4	1	94486937	Missense_Mutation	SNP	G	TCGA-FG-6692-01A-11D-1893-08	15094183	94486937	154763684	2	24678											
VCAM1	7412	broad.mit.edu	37	1	101198155	101198155	+	Silent	SNP	A	A	G			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr1:101198155A>G	ENST00000294728.2	+	7	1808	c.1707A>G	c.(1705-1707)acA>acG	p.T569T	VCAM1_ENST00000370119.4_Silent_p.T507T|VCAM1_ENST00000370115.1_Silent_p.T370T|VCAM1_ENST00000347652.2_Silent_p.T477T	NM_001078.3	NP_001069.1	P19320	VCAM1_HUMAN	vascular cell adhesion molecule 1	569	Ig-like C2-type 6.				heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome	cell adhesion molecule binding|integrin binding			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	TAATTTCTACAAAAATGGAAG	0.458													37	50					0	0	0.069456	0	0	G	101198155	A	G	101198155	2	3	194	1	0	0	0	0	0	0	0	1	17197	117	5	3		3	VCAM1	1	101198155	Silent	SNP	A	TCGA-FG-6692-01A-11D-1893-08	6711218	101198155	148052466	3	24679											
FLG2	388698	broad.mit.edu	37	1	152328212	152328212	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr1:152328212G>A	ENST00000388718.5	-	3	2122	c.2050C>T	c.(2050-2052)Cat>Tat	p.H684Y	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	684	Ser-rich.						calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTAGACTCATGTTGTCCAAAA	0.473													206	326					0	0	0.048971	0	0	A	152328212	G	A	152328212	3	1	194	1	0	0	0	0	1	0	0	0	5956	1377	48	2	5129	2	FLG2	1	152328212	Missense_Mutation	SNP	G	TCGA-FG-6692-01A-11D-1893-08	51130057	152328212	96922409	4	24680											
RNASEL	6041	broad.mit.edu	37	1	182544690	182544690	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr1:182544690G>A	ENST00000367559.3	-	7	2316	c.2063C>T	c.(2062-2064)cCt>cTt	p.P688L	RNASEL_ENST00000444138.1_Missense_Mutation_p.P688L	NM_021133.3	NP_066956.1	Q05823	RN5A_HUMAN	ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent)	688	KEN.				mRNA processing|response to virus|type I interferon-mediated signaling pathway	mitochondrion	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|metal ion binding|protein kinase activity|RNA binding			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(1)	27						ATACAGGGAAGGGTCTCCAAT	0.398													25	40					0	0	0.034045	0	0	A	182544690	G	A	182544690	3	1	194	1	0	0	0	0	1	0	0	0	13468	1000	35	2	166	2	RNASEL	1	182544690	Missense_Mutation	SNP	G	TCGA-FG-6692-01A-11D-1893-08	30216478	182544690	66705931	5	24681											
GREM2	64388	broad.mit.edu	37	1	240656344	240656344	+	Silent	SNP	G	G	A			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr1:240656344G>A	ENST00000318160.4	-	2	698	c.432C>T	c.(430-432)ttC>ttT	p.F144F		NM_022469.3	NP_071914.3	Q9H772	GREM2_HUMAN	gremlin 2, DAN family BMP antagonist	144	CTCK.				BMP signaling pathway	extracellular space	cytokine activity			endometrium(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	10		all_cancers(173;0.0196)	OV - Ovarian serous cystadenocarcinoma(106;0.0123)			TCTTGAGTCGGAAGGGTGGGT	0.647													38	58					0	0	0.042209	0	0	A	240656344	G	A	240656344	2	1	194	1	0	0	0	0	0	0	0	1	6803	1165	41	2		2	GREM2	1	240656344	Silent	SNP	G	TCGA-FG-6692-01A-11D-1893-08	58111654	240656344	8594277	6	24682											
SDC1	6382	broad.mit.edu	37	2	20403920	20403920	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr2:20403920G>A	ENST00000381150.1	-	4	671	c.281C>T	c.(280-282)cCg>cTg	p.P94L	SDC1_ENST00000482879.1_5'UTR|SDC1_ENST00000403076.1_Missense_Mutation_p.P94L|SDC1_ENST00000254351.4_Missense_Mutation_p.P94L	NM_001006946.1	NP_001006947	P18827	SDC1_HUMAN	syndecan 1	94					lipid metabolic process|lipoprotein metabolic process|myoblast development|striated muscle cell development	cytoplasm|extracellular region|focal adhesion|integral to plasma membrane	cytoskeletal protein binding|protein C-terminus binding			NS(1)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(4)|skin(2)	21	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)			OV - Ovarian serous cystadenocarcinoma(76;0.221)		CTCTCCAGCCGGCAGGGTGGA	0.687													45	95					0	0	0.039052	0	0	A	20403920	G	A	20403920	3	1	194	1	0	0	0	0	1	0	0	0	14005	1116	39	1	663	1	SDC1	2	20403920	Missense_Mutation	SNP	G	TCGA-FG-6692-01A-11D-1893-08		20403920	222795453	7	24683											
LRRTM4	80059	broad.mit.edu	37	2	77746149	77746149	+	Silent	SNP	C	C	T			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr2:77746149C>T	ENST00000409088.3	-	3	1260	c.846G>A	c.(844-846)ttG>ttA	p.L282L	LRRTM4_ENST00000409093.1_Silent_p.L282L|LRRTM4_ENST00000409282.1_Silent_p.L283L|LRRTM4_ENST00000409884.1_Silent_p.L282L|LRRTM4_ENST00000409911.1_Silent_p.L283L	NM_001282928.1|NM_024993.4	NP_001269857.1|NP_079269.4	Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	282						integral to membrane		p.L282F(2)		autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		AATCCAAATTCAATTTTTGTA	0.398													15	12					0	0	0.020292	0	0	T	77746149	C	T	77746149	2	4	194	1	0	0	0	0	0	0	0	1	9087	825	29	2		2	LRRTM4	2	77746149	Silent	SNP	C	TCGA-FG-6692-01A-11D-1893-08	57342229	77746149	165453224	8	24684											
SAP130	79595	broad.mit.edu	37	2	128747195	128747195	+	Missense_Mutation	SNP	C	C	A			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr2:128747195C>A	ENST00000357702.5	-	13	1932	c.1801G>T	c.(1801-1803)Ggg>Tgg	p.G601W	SAP130_ENST00000259235.3_Missense_Mutation_p.G601W|SAP130_ENST00000259234.6_Missense_Mutation_p.G575W	NM_001145928.1	NP_001139400.1	Q9H0E3	SP130_HUMAN	Sin3A-associated protein, 130kDa	601					histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity			NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		GGCTGAAGCCCTTGTGTGTTG	0.512													4	133					0.000602214	0.000662942	0.014758	1	0	A	128747195	C	A	128747195	3	1	194	1	0	0	0	0	1	0	0	0	13883	681	24	4	1486	4	SAP130	2	128747195	Missense_Mutation	SNP	C	TCGA-FG-6692-01A-11D-1893-08	51001046	128747195	114452178	9	24685											
LRP2	4036	broad.mit.edu	37	2	170034411	170034411	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr2:170034411T>C	ENST00000263816.3	-	53	10580	c.10295A>G	c.(10294-10296)aAg>aGg	p.K3432R	LRP2_ENST00000461418.1_5'UTR	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	3432					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	TTTGTTTCCCTTTTCCACTGT	0.433													3	268					0	0	0.004672	0	0	C	170034411	T	C	170034411	3	2	194	1	0	0	0	0	1	0	0	0	9001	1609	56	3	3780	3	LRP2	2	170034411	Missense_Mutation	SNP	T	TCGA-FG-6692-01A-11D-1893-08	41287216	170034411	73164962	10	24686											
TTN	7273	broad.mit.edu	37	2	179498031	179498031	+	Silent	SNP	C	C	T			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr2:179498031C>T	ENST00000589042.1	-	233	43193	c.42969G>A	c.(42967-42969)aaG>aaA	p.K14323K	TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Silent_p.K5383K|TTN_ENST00000342992.6_Silent_p.K11755K|TTN_ENST00000342175.6_Silent_p.K5450K|TTN_ENST00000460472.2_Silent_p.K5258K|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Silent_p.K12682K|TTN-AS1_ENST00000590807.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	12682							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CGTACAGAGGCTTTTCCACTT	0.403													68	100					0	0	0.048971	0	0	T	179498031	C	T	179498031	2	4	194	1	0	0	0	0	0	0	0	1	16797	796	28	2		2	TTN	2	179498031	Silent	SNP	C	TCGA-FG-6692-01A-11D-1893-08	9463620	179498031	63701342	11	24687											
DNAH7	56171	broad.mit.edu	37	2	196720560	196720560	+	Missense_Mutation	SNP	T	T	A			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr2:196720560T>A	ENST00000312428.6	-	45	8670	c.8570A>T	c.(8569-8571)cAa>cTa	p.Q2857L		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2857	Stalk (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						AGCCTTCTTTTGTTTATTTAA	0.403													140	216					0	0	0.048971	0	0	A	196720560	T	A	196720560	3	1	194	1	0	0	0	0	1	0	0	0	4633	1812	63	5	3588	5	DNAH7	2	196720560	Missense_Mutation	SNP	T	TCGA-FG-6692-01A-11D-1893-08	17222529	196720560	46478813	12	24688											
CRYGB	1419	broad.mit.edu	37	2	209007511	209007511	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr2:209007511C>T	ENST00000260988.4	-	3	426	c.379G>A	c.(379-381)Gtg>Atg	p.V127M		NM_005210.3	NP_005201.2	P07316	CRGB_HUMAN	crystallin, gamma B	127	Beta/gamma crystallin 'Greek key' 3.				visual perception		structural constituent of eye lens			cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|stomach(1)	14				Epithelial(149;0.0641)|LUSC - Lung squamous cell carcinoma(261;0.0703)|Lung(261;0.132)		CCCTCCAGCACATTGAGGGAG	0.542													73	108					0	0	0.048971	0	0	T	209007511	C	T	209007511	3	4	194	1	0	0	0	0	1	0	0	0	3938	478	17	2	152	2	CRYGB	2	209007511	Missense_Mutation	SNP	C	TCGA-FG-6692-01A-11D-1893-08	12286951	209007511	34191862	13	24689											
DGKD	8527	broad.mit.edu	37	2	234360660	234360660	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr2:234360660C>T	ENST00000264057.2	+	18	2230	c.2218C>T	c.(2218-2220)Cgc>Tgc	p.R740C	DGKD_ENST00000409813.3_Missense_Mutation_p.R696C	NM_152879.2	NP_690618.2	Q16760	DGKD_HUMAN	diacylglycerol kinase, delta 130kDa	740					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell growth|diacylglycerol metabolic process|endocytosis|epidermal growth factor receptor signaling pathway|multicellular organismal development|platelet activation|protein homooligomerization|protein transport|response to organic substance|second-messenger-mediated signaling	cytoplasm|cytoplasmic membrane-bounded vesicle|plasma membrane	ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1)	38		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	Phosphatidylserine(DB00144)	AGTCATCAGTCGCCTGTTAAT	0.493													41	63					0	0	0.039052	0	0	T	234360660	C	T	234360660	3	4	194	1	0	0	0	0	1	0	0	0	4495	884	31	1	2312	1	DGKD	2	234360660	Missense_Mutation	SNP	C	TCGA-FG-6692-01A-11D-1893-08	25353149	234360660	8838713	14	24690											
COL6A3	1293	broad.mit.edu	37	2	238303658	238303658	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr2:238303658T>C	ENST00000295550.4	-	3	733	c.281A>G	c.(280-282)aAt>aGt	p.N94S	COL6A3_ENST00000353578.4_Intron|COL6A3_ENST00000346358.4_Missense_Mutation_p.N94S|COL6A3_ENST00000347401.3_Missense_Mutation_p.N94S|COL6A3_ENST00000409809.1_Intron|COL6A3_ENST00000392004.3_Intron|COL6A3_ENST00000472056.1_Intron|COL6A3_ENST00000392003.2_Intron	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	94	Nonhelical region.|VWFA 1.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		ACGATACGTATTTAACAGGAA	0.368													36	49					0	0	0.069456	0	0	C	238303658	T	C	238303658	3	2	194	1	0	0	0	0	1	0	0	0	3724	1493	52	3	9467	3	COL6A3	2	238303658	Missense_Mutation	SNP	T	TCGA-FG-6692-01A-11D-1893-08	3942998	238303658	4895715	15	24691											
GPR27	2850	broad.mit.edu	37	3	71803791	71803791	+	Silent	SNP	G	G	T			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr3:71803791G>T	ENST00000304411.2	+	1	591	c.591G>T	c.(589-591)acG>acT	p.T197T	EIF4E3_ENST00000421769.2_Intron	NM_018971.1	NP_061844.1	Q9NS67	GPR27_HUMAN	G protein-coupled receptor 27	197						integral to membrane|plasma membrane	G-protein coupled receptor activity			kidney(1)|lung(2)|ovary(1)|prostate(1)	5		Prostate(10;0.00899)		BRCA - Breast invasive adenocarcinoma(55;1.78e-05)|Epithelial(33;5.75e-05)|Lung(16;0.0012)|LUSC - Lung squamous cell carcinoma(21;0.00156)		TGGGCGCCACGCACCTCGTCT	0.746													4	3					2.56e-06	2.84203e-06	0.009096	1	0	T	71803791	G	T	71803791	2	4	194	1	0	0	0	0	0	0	0	1	6725	1074	38	5		5	GPR27	3	71803791	Silent	SNP	G	TCGA-FG-6692-01A-11D-1893-08		71803791	126218639	16	24692											
VEPH1	79674	broad.mit.edu	37	3	156978935	156978935	+	Silent	SNP	G	G	A			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr3:156978935G>A	ENST00000362010.2	-	14	2797	c.2490C>T	c.(2488-2490)acC>acT	p.T830T	RP11-550I24.2_ENST00000487238.1_RNA|RP11-550I24.2_ENST00000488040.1_RNA|VEPH1_ENST00000392832.2_Silent_p.T830T|RP11-550I24.2_ENST00000475102.1_RNA|VEPH1_ENST00000392833.2_Silent_p.T785T|VEPH1_ENST00000543418.1_Silent_p.T785T	NM_001167912.1	NP_001161384.1	Q14D04	MELT_HUMAN	ventricular zone expressed PH domain-containing 1	830						plasma membrane				autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			ACAGATATGTGGTTACTTCTC	0.408													44	72					0	0	0.048971	0	0	A	156978935	G	A	156978935	2	1	194	1	0	0	0	0	0	0	0	1	17214	1335	47	2		2	VEPH1	3	156978935	Silent	SNP	G	TCGA-FG-6692-01A-11D-1893-08	85175144	156978935	41043495	17	24693											
MECOM	2122	broad.mit.edu	37	3	168838969	168838969	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr3:168838969C>T	ENST00000464456.1	-	6	1643	c.443G>A	c.(442-444)cGg>cAg	p.R148Q	MECOM_ENST00000494292.1_Missense_Mutation_p.R336Q|MECOM_ENST00000392736.3_Missense_Mutation_p.R148Q|MECOM_ENST00000472280.1_Missense_Mutation_p.R149Q|MECOM_ENST00000460814.1_Missense_Mutation_p.R148Q|MECOM_ENST00000433243.2_Missense_Mutation_p.R149Q|MECOM_ENST00000264674.3_Missense_Mutation_p.R213Q|MECOM_ENST00000468789.1_Missense_Mutation_p.R148Q	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						GCGAATGTGCCGCTGAAGGTT	0.517													25	36					0	0	0.0918	0	0	T	168838969	C	T	168838969	3	4	194	1	0	0	0	0	1	0	0	0	9472	652	23	1	2756	1	MECOM	3	168838969	Missense_Mutation	SNP	C	TCGA-FG-6692-01A-11D-1893-08	11860034	168838969	29183461	18	24694											
LETM1	3954	broad.mit.edu	37	4	1824793	1824793	+	Silent	SNP	C	C	T			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr4:1824793C>T	ENST00000302787.2	-	9	1694	c.1398G>A	c.(1396-1398)ctG>ctA	p.L466L		NM_012318.2	NP_036450.1	O95202	LETM1_HUMAN	leucine zipper-EF-hand containing transmembrane protein 1	466					cristae formation	integral to membrane|mitochondrial inner membrane	calcium ion binding|protein binding			breast(3)|central_nervous_system(2)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	13			all cancers(2;0.00756)|OV - Ovarian serous cystadenocarcinoma(23;0.00989)|Epithelial(3;0.0141)			GCGTGGCCTCCAGCTTGGCCT	0.632													44	57					0	0	0.039052	0	0	T	1824793	C	T	1824793	2	4	194	1	0	0	0	0	0	0	0	1	8773	581	21	2		2	LETM1	4	1824793	Silent	SNP	C	TCGA-FG-6692-01A-11D-1893-08		1824793	189329483	19	24695											
SMAD1	4086	broad.mit.edu	37	4	146435947	146435947	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr4:146435947C>T	ENST00000515385.1	+	2	724	c.182C>T	c.(181-183)cCg>cTg	p.P61L	SMAD1_ENST00000394092.2_Missense_Mutation_p.P61L|SMAD1_ENST00000302085.4_Missense_Mutation_p.P61L|RP11-301H24.4_ENST00000513542.1_RNA			Q15797	SMAD1_HUMAN	SMAD family member 1	61	MH1.				BMP signaling pathway|embryonic pattern specification|primary miRNA processing|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway	cytosol|integral to membrane|nuclear inner membrane	co-SMAD binding|I-SMAD binding|identical protein binding|protein kinase binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity			endometrium(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	17	all_hematologic(180;0.151)					CCAGGGCAACCGAGTAACTGT	0.532													27	38					0	0	0.0918	0	0	T	146435947	C	T	146435947	3	4	194	1	0	0	0	0	1	0	0	0	14811	652	23	1	184	1	SMAD1	4	146435947	Missense_Mutation	SNP	C	TCGA-FG-6692-01A-11D-1893-08	144611154	146435947	44718329	20	24696											
IRX1	79192	broad.mit.edu	37	5	3599597	3599597	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr5:3599597G>A	ENST00000302006.3	+	2	587	c.535G>A	c.(535-537)Gcc>Acc	p.A179T	CTD-2012M11.3_ENST00000559410.1_RNA	NM_024337.3	NP_077313.3	P78414	IRX1_HUMAN	iroquois homeobox 1	179						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						CACCTGGTTCGCCAACGCGCG	0.622													41	67					0	0	0.039052	0	0	A	3599597	G	A	3599597	3	1	194	1	0	0	0	0	1	0	0	0	7887	1087	38	1	541	1	IRX1	5	3599597	Missense_Mutation	SNP	G	TCGA-FG-6692-01A-11D-1893-08		3599597	177315663	21	24697											
IL31RA	133396	broad.mit.edu	37	5	55178899	55178899	+	Missense_Mutation	SNP	G	G	A	rs142659639		TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr5:55178899G>A	ENST00000396834.1	+	7	921	c.425G>A	c.(424-426)cGt>cAt	p.R142H	IL31RA_ENST00000359040.5_Missense_Mutation_p.R161H|IL31RA_ENST00000354961.4_Missense_Mutation_p.R142H|IL31RA_ENST00000490985.1_Missense_Mutation_p.R19H|IL31RA_ENST00000447346.2_Missense_Mutation_p.R161H|IL31RA_ENST00000297015.3_Missense_Mutation_p.R19H|IL31RA_ENST00000396836.2_Missense_Mutation_p.R161H	NM_001242638.1	NP_001229567.1	Q8NI17	IL31R_HUMAN	interleukin 31 receptor A	129	Fibronectin type-III 2.				anti-apoptosis|defense response|homeostatic process|JAK-STAT cascade|macrophage differentiation|MAPKKK cascade|monocyte differentiation|negative regulation of macrophage activation|positive regulation of cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|transmembrane receptor protein tyrosine kinase signaling pathway	integral to membrane|plasma membrane	cytokine receptor activity|protein kinase binding|transcription coactivator activity			endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)	21		Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223)				AAGATTTTCCGTGTGAAACCA	0.353													35	63					0	0	0.064281	0	0	A	55178899	G	A	55178899	3	1	194	1	0	0	0	0	1	0	0	0	7735	1145	40	1	500	1	IL31RA	5	55178899	Missense_Mutation	SNP	G	TCGA-FG-6692-01A-11D-1893-08	51579302	55178899	125736361	22	24698											
RASGRF2	5924	broad.mit.edu	37	5	80382758	80382758	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr5:80382758C>T	ENST00000265080.4	+	9	1443	c.1376C>T	c.(1375-1377)aCg>aTg	p.T459M	RASGRF2_ENST00000502677.1_3'UTR	NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 2	459					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	protein binding|Rho guanyl-nucleotide exchange factor activity			biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		ACCAGCCAAACGTTCATCCGC	0.532													37	62					0	0	0.064281	0	0	T	80382758	C	T	80382758	3	4	194	1	0	0	0	0	1	0	0	0	13125	536	19	1	1410	1	RASGRF2	5	80382758	Missense_Mutation	SNP	C	TCGA-FG-6692-01A-11D-1893-08	25203859	80382758	100532502	23	24699											
PCDHGA6	56109	broad.mit.edu	37	5	140755693	140755693	+	Silent	SNP	C	C	T			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr5:140755693C>T	ENST00000517434.1	+	1	2043	c.2043C>T	c.(2041-2043)tcC>tcT	p.S681S	PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1														breast(1)|large_intestine(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCGAGCCCTCCGCCAAACCCA	0.682													46	80					0	0	0.048971	0	0	T	140755693	C	T	140755693	2	4	194	1	0	0	0	0	0	0	0	1	11605	639	23	1		1	PCDHGA6	5	140755693	Silent	SNP	C	TCGA-FG-6692-01A-11D-1893-08	60372935	140755693	40159567	24	24700											
GMDS	2762	broad.mit.edu	37	6	1961060	1961060	+	Silent	SNP	C	C	T			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr6:1961060C>T	ENST00000380815.4	-	5	755	c.486G>A	c.(484-486)gtG>gtA	p.V162V	GMDS_ENST00000530927.1_Silent_p.V132V	NM_001500.3	NP_001491.1	O60547	GMDS_HUMAN	GDP-mannose 4,6-dehydratase	162					'de novo' GDP-L-fucose biosynthetic process|GDP-mannose metabolic process|leukocyte cell-cell adhesion		coenzyme binding|GDP-mannose 4,6-dehydratase activity		GMDS/PDE8B(2)	breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|prostate(1)	21	Ovarian(93;0.0733)	all_cancers(2;7.64e-19)|all_epithelial(2;3.05e-16)|Colorectal(2;0.00414)|all_hematologic(90;0.00997)|all_lung(73;0.0141)|Lung NSC(90;0.0802)		Epithelial(2;7.61e-06)|all cancers(2;0.000111)|STAD - Stomach adenocarcinoma(2;0.000231)|Colorectal(2;0.00445)|COAD - Colon adenocarcinoma(2;0.0125)|OV - Ovarian serous cystadenocarcinoma(45;0.0563)		GTATTTCCTGCACTTTCCCAT	0.498													65	99					0	0	0.048971	0	0	T	1961060	C	T	1961060	2	4	194	1	0	0	0	0	0	0	0	1	6528	697	25	2		2	GMDS	6	1961060	Silent	SNP	C	TCGA-FG-6692-01A-11D-1893-08		1961060	169154007	25	24701											
BTN2A1	11120	broad.mit.edu	37	6	26463544	26463544	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr6:26463544G>A	ENST00000429381.1	+	4	715	c.503G>A	c.(502-504)aGa>aAa	p.R168K	BTN2A1_ENST00000469185.1_Missense_Mutation_p.R168K|BTN2A1_ENST00000312541.5_Missense_Mutation_p.R168K|BTN2A1_ENST00000541522.1_Missense_Mutation_p.R107K			Q7KYR7	BT2A1_HUMAN	butyrophilin, subfamily 2, member A1	168					lipid metabolic process	integral to plasma membrane				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(3)	27						TGCATATCTAGAGGGTGGTAC	0.587													49	72					0	0	0.048971	0	0	A	26463544	G	A	26463544	3	1	194	1	0	0	0	0	1	0	0	0	1563	942	33	2	513	2	BTN2A1	6	26463544	Missense_Mutation	SNP	G	TCGA-FG-6692-01A-11D-1893-08	24502484	26463544	144651523	26	24702											
NOTCH4	4855	broad.mit.edu	37	6	32188296	32188296	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr6:32188296C>T	ENST00000375023.3	-	6	1183	c.1045G>A	c.(1045-1047)Ggc>Agc	p.G349S		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	349	EGF-like 8; calcium-binding (Potential).				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						CAGCTTGTGCCGCCCCAGCCA	0.617													44	87					0	0	0.042209	0	0	T	32188296	C	T	32188296	3	4	194	1	0	0	0	0	1	0	0	0	10598	652	23	1	5066	1	NOTCH4	6	32188296	Missense_Mutation	SNP	C	TCGA-FG-6692-01A-11D-1893-08	5724752	32188296	138926771	27	24703											
UNC5CL	222643	broad.mit.edu	37	6	41002808	41002808	+	Silent	SNP	G	G	A			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr6:41002808G>A	ENST00000244565.3	-	2	94	c.6C>T	c.(4-6)tgC>tgT	p.C2C	UNC5CL_ENST00000373164.1_Silent_p.C2C	NM_173561.2	NP_775832.2	Q8IV45	UN5CL_HUMAN	unc-5 homolog C (C. elegans)-like	2					signal transduction	cytoplasm|integral to membrane				endometrium(1)|kidney(3)|large_intestine(3)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	13	Ovarian(28;0.0418)|Colorectal(47;0.196)					TCTCCTGGGGGCACATTCGCC	0.602													4	67					0	0	0.009096	0	0	A	41002808	G	A	41002808	2	1	194	1	0	0	0	0	0	0	0	1	17054	1195	42	2		2	UNC5CL	6	41002808	Silent	SNP	G	TCGA-FG-6692-01A-11D-1893-08	8814512	41002808	130112259	28	24704											
DPY19L1	23333	broad.mit.edu	37	7	34978935	34978935	+	Silent	SNP	T	T	A			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr7:34978935T>A	ENST00000310974.4	-	20	1842	c.1698A>T	c.(1696-1698)gcA>gcT	p.A566A		NM_015283.1	NP_056098.1	Q2PZI1	D19L1_HUMAN	dpy-19-like 1 (C. elegans)	566						integral to membrane				endometrium(3)|kidney(5)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	31						TGGGCCGAAGTGCAGAGAGCT	0.502													36	90					0	0	0.086207	0	0	A	34978935	T	A	34978935	2	1	194	1	0	0	0	0	0	0	0	1	4766	1683	59	5		5	DPY19L1	7	34978935	Silent	SNP	T	TCGA-FG-6692-01A-11D-1893-08		34978935	124159728	29	24705											
BLVRA	644	broad.mit.edu	37	7	43827558	43827558	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr7:43827558G>A	ENST00000402924.1	+	4	231	c.68G>A	c.(67-69)cGg>cAg	p.R23Q	BLVRA_ENST00000265523.4_Missense_Mutation_p.R23Q	NM_001253823.1	NP_001240752.1	P53004	BIEA_HUMAN	biliverdin reductase A	23					heme catabolic process	cytosol	biliverdin reductase activity|zinc ion binding			endometrium(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(2)	12					NADH(DB00157)	GGCTCCGTGCGGATGAGGGAC	0.547													4	215					0	0	0.009096	0	0	A	43827558	G	A	43827558	3	1	194	1	0	0	0	0	1	0	0	0	1450	1116	39	1	74	1	BLVRA	7	43827558	Missense_Mutation	SNP	G	TCGA-FG-6692-01A-11D-1893-08	8848623	43827558	115311105	30	24706											
UBE2D4	51619	broad.mit.edu	37	7	43990260	43990260	+	Missense_Mutation	SNP	A	A	G			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr7:43990260A>G	ENST00000222402.3	+	6	456	c.367A>G	c.(367-369)Ata>Gta	p.I123V	UBE2D4_ENST00000394798.4_Missense_Mutation_p.I85V|POLR2J4_ENST00000427076.1_RNA	NM_015983.3	NP_057067.1	Q9Y2X8	UB2D4_HUMAN	ubiquitin-conjugating enzyme E2D 4 (putative)						protein K11-linked ubiquitination|protein K27-linked ubiquitination|protein K29-linked ubiquitination|protein K48-linked ubiquitination|protein K6-linked ubiquitination|protein K63-linked ubiquitination		ATP binding|protein binding|ubiquitin-protein ligase activity			endometrium(1)|large_intestine(2)|lung(1)|pancreas(1)	5						GGTGCCAGAGATAGCACACAC	0.572													21	72					0	0	0.062417	0	0	G	43990260	A	G	43990260	3	3	194	1	0	0	0	0	1	0	0	0	16912	333	12	3	389	3	UBE2D4	7	43990260	Missense_Mutation	SNP	A	TCGA-FG-6692-01A-11D-1893-08	162702	43990260	115148403	31	24707											
DDX56	54606	broad.mit.edu	37	7	44608558	44608558	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr7:44608558G>A	ENST00000258772.5	-	11	1433	c.1327C>T	c.(1327-1329)Cgg>Tgg	p.R443W	DDX56_ENST00000431640.1_Missense_Mutation_p.R403W|DDX56_ENST00000485367.1_5'UTR	NM_001257189.1|NM_019082.3	NP_001244118.1|NP_061955.1	Q9NY93	DDX56_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 56	443					rRNA processing	nucleolus	ATP binding|ATP-dependent RNA helicase activity|identical protein binding|RNA binding	p.R443R(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(5)|upper_aerodigestive_tract(1)	16						CTTGCCTCCCGAATGGCCTGC	0.537													66	191					0	0	0.048971	0	0	A	44608558	G	A	44608558	3	1	194	1	0	0	0	0	1	0	0	0	4397	1057	37	1	332	1	DDX56	7	44608558	Missense_Mutation	SNP	G	TCGA-FG-6692-01A-11D-1893-08	618298	44608558	114530105	32	24708											
EGFR	1956	broad.mit.edu	37	7	55221822	55221822	+	Missense_Mutation	SNP	C	C	T	rs149840192		TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr7:55221822C>T	ENST00000275493.2	+	7	1043	c.866C>T	c.(865-867)gCc>gTc	p.A289V	EGFR_ENST00000420316.2_Missense_Mutation_p.A289V|EGFR_ENST00000455089.1_Missense_Mutation_p.A244V|EGFR_ENST00000344576.2_Missense_Mutation_p.A289V|EGFR_ENST00000442591.1_Missense_Mutation_p.A289V|EGFR_ENST00000454757.2_Missense_Mutation_p.A236V|EGFR_ENST00000342916.3_Missense_Mutation_p.A289V	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	289					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.A289V(20)|p.A289D(3)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	AGCTTTGGTGCCACCTGCGTG	0.592		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			2177	104					0	0	0.048971	0	0	T	55221822	C	T	55221822	3	4	194	1	0	0	0	0	1	0	0	0	4993	739	26	2	892	2	EGFR	7	55221822	Missense_Mutation	SNP	C	TCGA-FG-6692-01A-11D-1893-08	10613264	55221822	103916841	33	24709											
EGFR	1956	broad.mit.edu	37	7	55225358	55225358	+	Frame_Shift_Del	DEL	T	T	-			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr7:55225358delT	ENST00000275493.2	+	11	1387	c.1210delT	c.(1210-1212)tttfs	p.F404fs	EGFR_ENST00000442591.1_Frame_Shift_Del_p.F404fs|EGFR_ENST00000342916.3_Frame_Shift_Del_p.F404fs|EGFR_ENST00000454757.2_Frame_Shift_Del_p.F351fs|EGFR_ENST00000344576.2_Frame_Shift_Del_p.F404fs|EGFR_ENST00000455089.1_Frame_Shift_Del_p.F359fs	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	404					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	CCTTACAGGGTTTTTGCTGAT	0.448		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			9	2555	---	---	---	---						-	55225358	T	-	55225358	7	5	194	1	0	1	0	1	0	0	0	0	4993	1725	60	0	1263	0	EGFR	7	55225358	Frame_Shift_Del	DEL	T	TCGA-FG-6692-01A-11D-1893-08	3536	55225358	103913305	34	24710											
GRM3	2913	broad.mit.edu	37	7	86468867	86468867	+	Silent	SNP	G	G	A			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr7:86468867G>A	ENST00000361669.2	+	4	3136	c.2037G>A	c.(2035-2037)agG>agA	p.R679R	GRM3_ENST00000439827.1_Intron|GRM3_ENST00000394720.2_Intron|GRM3_ENST00000536043.1_Silent_p.R551R|GRM3_ENST00000546348.1_Silent_p.R271R	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	679					synaptic transmission	integral to plasma membrane				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	GCGCTCAGAGGCCAAAATTCA	0.547													4	127					0	0	0.009096	0	0	A	86468867	G	A	86468867	2	1	194	1	0	0	0	0	0	0	0	1	6839	1194	42	2		2	GRM3	7	86468867	Silent	SNP	G	TCGA-FG-6692-01A-11D-1893-08	31243509	86468867	72669796	35	24711											
DOCK4	9732	broad.mit.edu	37	7	111634282	111634282	+	Missense_Mutation	SNP	A	A	G			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr7:111634282A>G	ENST00000428084.1	-	5	495	c.223T>C	c.(223-225)Ttt>Ctt	p.F75L	DOCK4_ENST00000437633.1_Missense_Mutation_p.F75L|DOCK4_ENST00000476846.1_5'UTR			Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	75					cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				ACCATTTCAAATTGTCTGTGA	0.308													34	82					0	0	0.054565	0	0	G	111634282	A	G	111634282	3	3	194	1	0	0	0	0	1	0	0	0	4716	101	4	3	5869	3	DOCK4	7	111634282	Missense_Mutation	SNP	A	TCGA-FG-6692-01A-11D-1893-08	25165415	111634282	47504381	36	24712											
KEL	3792	broad.mit.edu	37	7	142655048	142655048	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr7:142655048G>A	ENST00000355265.2	-	6	1012	c.538C>T	c.(538-540)Cgc>Tgc	p.R180C	KEL_ENST00000479768.2_5'UTR	NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	180			R -> P (in KEL24 antigen).		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)					CCAGAGATGCGCCAGCCTCCA	0.517													17	44					0	0	0.0333	0	0	A	142655048	G	A	142655048	3	1	194	1	0	0	0	0	1	0	0	0	8185	1087	38	1	1716	1	KEL	7	142655048	Missense_Mutation	SNP	G	TCGA-FG-6692-01A-11D-1893-08	31020766	142655048	16483615	37	24713											
GIMAP4	55303	broad.mit.edu	37	7	150269789	150269789	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr7:150269789C>T	ENST00000255945.2	+	3	806	c.631C>T	c.(631-633)Cgc>Tgc	p.R211C	GIMAP4_ENST00000461940.1_Missense_Mutation_p.R225C|GIMAP4_ENST00000494750.1_3'UTR	NM_018326.2	NP_060796.1	Q9NUV9	GIMA4_HUMAN	GTPase, IMAP family member 4	211							GTP binding			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(82;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CCTGATCCAGCGCGTGGTGAG	0.542													53	113					0	0	0.048971	0	0	T	150269789	C	T	150269789	3	4	194	1	0	0	0	0	1	0	0	0	6423	768	27	1	637	1	GIMAP4	7	150269789	Missense_Mutation	SNP	C	TCGA-FG-6692-01A-11D-1893-08	7614741	150269789	8868874	38	24714											
BLK	640	broad.mit.edu	37	8	11414294	11414294	+	Silent	SNP	C	C	T	rs139994406	by1000genomes	TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr8:11414294C>T	ENST00000259089.4	+	9	1492	c.900C>T	c.(898-900)taC>taT	p.Y300Y	BLK_ENST00000529894.1_Silent_p.Y229Y|RP11-148O21.4_ENST00000528629.1_RNA	NM_001715.2	NP_001706.2	P51451	BLK_HUMAN	B lymphoid tyrosine kinase	300	Protein kinase.				intracellular protein kinase cascade|positive regulation of insulin secretion		ATP binding|non-membrane spanning protein tyrosine kinase activity	p.Y300Y(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(4)|stomach(1)	27			STAD - Stomach adenocarcinoma(15;0.00391)	COAD - Colon adenocarcinoma(149;0.207)		TCCGACTCTACGCAGTGGTCA	0.617													28	40					0	0	0.037714	0	0	T	11414294	C	T	11414294	2	4	194	1	0	0	0	0	0	0	0	1	1443	547	19	1		1	BLK	8	11414294	Silent	SNP	C	TCGA-FG-6692-01A-11D-1893-08		11414294	134949728	39	24715											
RP1	6101	broad.mit.edu	37	8	55538303	55538303	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr8:55538303G>A	ENST00000220676.1	+	4	2009	c.1861G>A	c.(1861-1863)Gga>Aga	p.G621R		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	621					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TAATAACTCTGGAACTGACAA	0.373													24	33					0	0	0.083992	0	0	A	55538303	G	A	55538303	3	1	194	1	0	0	0	0	1	0	0	0	13584	1349	47	2	1871	2	RP1	8	55538303	Missense_Mutation	SNP	G	TCGA-FG-6692-01A-11D-1893-08	44124009	55538303	90825719	40	24716											
PSKH2	85481	broad.mit.edu	37	8	87081703	87081703	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr8:87081703C>T	ENST00000276616.2	-	1	223	c.149G>A	c.(148-150)cGc>cAc	p.R50H	PSKH2_ENST00000517981.1_Intron	NM_033126.1	NP_149117.1	Q96QS6	KPSH2_HUMAN	protein serine kinase H2	50							ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|kidney(11)|large_intestine(2)|lung(26)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(1)	47			STAD - Stomach adenocarcinoma(118;0.129)			GGCTCGGAAGCGAGCCACCTG	0.672													11	19					0	0	0.09319	0	0	T	87081703	C	T	87081703	3	4	194	1	0	0	0	0	1	0	0	0	12714	768	27	1	1018	1	PSKH2	8	87081703	Missense_Mutation	SNP	C	TCGA-FG-6692-01A-11D-1893-08	31543400	87081703	59282319	41	24717											
COL14A1	7373	broad.mit.edu	37	8	121238908	121238908	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr8:121238908C>T	ENST00000297848.3	+	16	2177	c.1907C>T	c.(1906-1908)aCg>aTg	p.T636M	COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000309791.4_Missense_Mutation_p.T636M|COL14A1_ENST00000537875.1_3'UTR|COL14A1_ENST00000247781.3_Missense_Mutation_p.T541M	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	636	Fibronectin type-III 5.		T -> A (in dbSNP:rs56815167).		cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			GATGAGGTGACGACAGACAGT	0.483													23	39					0	0	0.069288	0	0	T	121238908	C	T	121238908	3	4	194	1	0	0	0	0	1	0	0	0	3694	536	19	1	1965	1	COL14A1	8	121238908	Missense_Mutation	SNP	C	TCGA-FG-6692-01A-11D-1893-08	34157205	121238908	25125114	42	24718											
COL22A1	169044	broad.mit.edu	37	8	139895346	139895346	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr8:139895346C>T	ENST00000303045.6	-	2	516	c.70G>A	c.(70-72)Ggc>Agc	p.G24S	COL22A1_ENST00000435777.1_Missense_Mutation_p.G24S	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	24					cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			GCCTGGCAGCCGCCGCCCCCA	0.672										HNSCC(7;0.00092)			3	7					0	0	0.014758	0	0	T	139895346	C	T	139895346	3	4	194	1	0	0	0	0	1	0	0	0	3704	652	23	1	5066	1	COL22A1	8	139895346	Missense_Mutation	SNP	C	TCGA-FG-6692-01A-11D-1893-08	18656438	139895346	6468676	43	24719											
SYK	6850	broad.mit.edu	37	9	93606246	93606246	+	Silent	SNP	G	G	A	rs139401525	by1000genomes	TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr9:93606246G>A	ENST00000375754.4	+	2	214	c.66G>A	c.(64-66)cgG>cgA	p.R22R	SYK_ENST00000476708.1_3'UTR|SYK_ENST00000375747.1_Silent_p.R22R|SYK_ENST00000375746.1_Silent_p.R22R|SYK_ENST00000375751.4_Silent_p.R22R	NM_003177.5	NP_003168.2	P43405	KSYK_HUMAN	spleen tyrosine kinase	22	SH2 1.				cell proliferation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|neutrophil chemotaxis|organ morphogenesis|platelet activation|protein complex assembly	cytosol|T cell receptor complex	ATP binding|integrin binding|non-membrane spanning protein tyrosine kinase activity			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)|skin(2)|stomach(2)	26						ACATCACCCGGGAGGAGGCAG	0.632			T	"ETV6, ITK"	"MDS, peripheral T-cell lymphoma"								10	16					0	0	0.058154	0	0	A	93606246	G	A	93606246	2	1	194	1	0	0	0	0	0	0	0	1	15495	1219	43	2		2	SYK	9	93606246	Silent	SNP	G	TCGA-FG-6692-01A-11D-1893-08		93606246	47607185	44	24720											
PTEN	5728	broad.mit.edu	37	10	89624305	89624305	+	Splice_Site	SNP	T	T	G			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr10:89624305T>G	ENST00000371953.3	+	1	1436	c.79T>G	c.(79-81)Tat>Gat	p.Y27D		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	27	Phosphatase tensin-type.		Y -> S (loss of phosphatase activity towards Ins(1,3,4,5)P4).		activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.?(13)|p.Y27D(2)|p.Y27N(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		AGACTTGACCTGTATCCATTT	0.463		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			42	25					0	0	0.104719	0	0	G	89624305	T	G	89624305	5	3	194	1	0	0	0	0	0	0	1	0	12787	1594	55	5	81	5	PTEN	10	89624305	Splice_Site	SNP	T	TCGA-FG-6692-01A-11D-1893-08		89624305	45910442	45	24721											
MYOF	26509	broad.mit.edu	37	10	95070355	95070355	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr10:95070355C>T	ENST00000371501.4	-	52	6057	c.5935G>A	c.(5935-5937)Gac>Aac	p.D1979N	MYOF_ENST00000371502.4_Missense_Mutation_p.D1969N|MYOF_ENST00000359263.4_Missense_Mutation_p.D1979N|MYOF_ENST00000358334.5_Missense_Mutation_p.D1966N			Q9NZM1	MYOF_HUMAN	myoferlin	1979					blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						GGCCTCTCGTCGGCCTCCTTC	0.493													39	15					0	0	0.048971	0	0	T	95070355	C	T	95070355	3	4	194	1	0	0	0	0	1	0	0	0	10137	884	31	1	262	1	MYOF	10	95070355	Missense_Mutation	SNP	C	TCGA-FG-6692-01A-11D-1893-08	5446050	95070355	40464392	46	24722											
DUSP5	1847	broad.mit.edu	37	10	112262482	112262482	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr10:112262482G>A	ENST00000369583.3	+	2	667	c.383G>A	c.(382-384)gGa>gAa	p.G128E		NM_004419.3	NP_004410.3	Q16690	DUS5_HUMAN	dual specificity phosphatase 5	128	Rhodanese.				endoderm formation|inactivation of MAPK activity	nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			kidney(2)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	13		Breast(234;0.0848)		Epithelial(162;0.000276)|all cancers(201;0.00465)|BRCA - Breast invasive adenocarcinoma(275;0.12)		TTTGTAGGGGGATATGAGACT	0.408													42	19					0	0	0.11126	0	0	A	112262482	G	A	112262482	3	1	194	1	0	0	0	0	1	0	0	0	4854	1174	41	2	389	2	DUSP5	10	112262482	Missense_Mutation	SNP	G	TCGA-FG-6692-01A-11D-1893-08	17192127	112262482	23272265	47	24723											
DEAF1	10522	broad.mit.edu	37	11	686996	686996	+	Splice_Site	SNP	G	G	A			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr11:686996G>A	ENST00000382409.3	-	5	1150	c.666C>T	c.(664-666)ggC>ggT	p.G222G	DEAF1_ENST00000338675.6_Intron	NM_021008.2	NP_066288.2	O75398	DEAF1_HUMAN	DEAF1 transcription factor	222	SAND.				embryonic skeletal system development|germ cell development|neural tube closure|regulation of mammary gland epithelial cell proliferation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|extracellular region|nucleus	protein binding|zinc ion binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;1.76e-27)|Epithelial(43;8.42e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.55e-21)|BRCA - Breast invasive adenocarcinoma(625;4.83e-05)|Lung(200;0.0259)|LUSC - Lung squamous cell carcinoma(625;0.075)		GTCCCCGGCCGCCTGCAAGGA	0.607													7	49					0	0	0.069234	0	0	A	686996	G	A	686996	5	1	194	1	0	0	0	0	0	0	1	0	4403	1101	38	1	1063	1	DEAF1	11	686996	Splice_Site	SNP	G	TCGA-FG-6692-01A-11D-1893-08		686996	134319520	48	24724											
USH1C	10083	broad.mit.edu	37	11	17531254	17531254	+	Silent	SNP	G	G	A			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr11:17531254G>A	ENST00000005226.7	-	18	1661	c.1662C>T	c.(1660-1662)ccC>ccT	p.P554P	USH1C_ENST00000527720.1_Intron|USH1C_ENST00000529563.1_Intron|USH1C_ENST00000527020.1_Intron|USH1C_ENST00000318024.4_Intron	NM_153676.3	NP_710142.1	Q9Y6N9	USH1C_HUMAN	Usher syndrome 1C (autosomal recessive, severe)	0					equilibrioception|G2/M transition of mitotic cell cycle|photoreceptor cell maintenance|sensory perception of sound	apical part of cell|cytoplasm|stereocilium	protein binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						GAGTCTTGGGGGGATAGTAGA	0.632													17	27					0	0	0.043863	0	0	A	17531254	G	A	17531254	2	1	194	1	0	0	0	0	0	0	0	1	17094	1219	43	2		2	USH1C	11	17531254	Silent	SNP	G	TCGA-FG-6692-01A-11D-1893-08	16844258	17531254	117475262	49	24725											
KCNA4	3739	broad.mit.edu	37	11	30033223	30033223	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr11:30033223C>T	ENST00000328224.6	-	2	2236	c.1003G>A	c.(1003-1005)Gac>Aac	p.D335N		NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	335						voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity	p.D335N(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						AGATCCCTGTCGTCCCTAAAC	0.517													40	50					0	0	0.092188	0	0	T	30033223	C	T	30033223	3	4	194	1	0	0	0	0	1	0	0	0	8049	884	31	1	962	1	KCNA4	11	30033223	Missense_Mutation	SNP	C	TCGA-FG-6692-01A-11D-1893-08	12501969	30033223	104973293	50	24726											
OR4X2	119764	broad.mit.edu	37	11	48266712	48266712	+	Silent	SNP	C	C	T			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr11:48266712C>T	ENST00000302329.3	+	1	105	c.57C>T	c.(55-57)tgC>tgT	p.C19C		NM_001004727.1	NP_001004727.1	Q8NGF9	OR4X2_HUMAN	olfactory receptor, family 4, subfamily X, member 2	19					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(4)|lung(12)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	20						AGAGGGTTTGCTTTGTGATAT	0.448													58	87					0	0	0.048971	0	0	T	48266712	C	T	48266712	2	4	194	1	0	0	0	0	0	0	0	1	11133	805	28	2		2	OR4X2	11	48266712	Silent	SNP	C	TCGA-FG-6692-01A-11D-1893-08	18233489	48266712	86739804	51	24727											
OR4X1	390113	broad.mit.edu	37	11	48286042	48286042	+	Silent	SNP	C	C	T			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr11:48286042C>T	ENST00000320048.1	+	1	630	c.630C>T	c.(628-630)ttC>ttT	p.F210F		NM_001004726.1	NP_001004726.1	Q8NH49	OR4X1_HUMAN	olfactory receptor, family 4, subfamily X, member 1 (gene/pseudogene)	210					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	28						TCAGTTTCTTCGTGCTGATGG	0.562													30	39					0	0	0.045705	0	0	T	48286042	C	T	48286042	2	4	194	1	0	0	0	0	0	0	0	1	11132	883	31	1		1	OR4X1	11	48286042	Silent	SNP	C	TCGA-FG-6692-01A-11D-1893-08	19330	48286042	86720474	52	24728											
WNT11	7481	broad.mit.edu	37	11	75898143	75898143	+	Missense_Mutation	SNP	C	C	A			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr11:75898143C>A	ENST00000322563.3	-	5	1155	c.1031G>T	c.(1030-1032)tGt>tTt	p.C344F		NM_004626.2	NP_004617.2	O96014	WNT11_HUMAN	wingless-type MMTV integration site family, member 11	344					adrenal gland development|anterior/posterior pattern formation|artery morphogenesis|axis specification|bone mineralization|cellular response to retinoic acid|cloacal septation|embryonic skeletal system development|endoderm development|lung-associated mesenchyme development|mesonephric duct development|negative regulation of apoptosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cartilage development|negative regulation of cell growth|negative regulation of cell migration|negative regulation of transcription, DNA-dependent|neuroendocrine cell differentiation|neuron differentiation|osteoblast differentiation|outflow tract morphogenesis|palate development|positive regulation of cell migration|positive regulation of protein kinase C signaling cascade|positive regulation of stress fiber assembly|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor-beta2 production|protein localization at cell surface|protein phosphorylation|tight junction assembly|ureteric bud morphogenesis|ventricular septum morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway	cytoplasm|extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|protein kinase activator activity|Ras GTPase activator activity|transcription regulatory region DNA binding	p.C344Y(2)		breast(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	20						GGTACGCTCACACCTGCGGCA	0.642													33	38					1.62565e-12	1.83586e-12	0.050027	1	0	A	75898143	C	A	75898143	3	1	194	1	0	0	0	0	1	0	0	0	17444	478	17	5	37	5	WNT11	11	75898143	Missense_Mutation	SNP	C	TCGA-FG-6692-01A-11D-1893-08	27612101	75898143	59108373	53	24729											
A2M	2	broad.mit.edu	37	12	9246146	9246146	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr12:9246146G>A	ENST00000318602.7	-	18	2462	c.2155C>T	c.(2155-2157)Cgc>Tgc	p.R719C		NM_000014.4	NP_000005	P01023	A2MG_HUMAN	alpha-2-macroglobulin	719	Bait region.|Inhibitory.				blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)	TGCACCAGGCGTGCATGGCCT	0.443													23	22					0	0	0.069288	0	0	A	9246146	G	A	9246146	3	1	194	1	0	0	0	0	1	0	0	0	4	1145	40	1	2345	1	A2M	12	9246146	Missense_Mutation	SNP	G	TCGA-FG-6692-01A-11D-1893-08		9246146	124605749	54	24730											
EP400	57634	broad.mit.edu	37	12	132466657	132466657	+	Silent	SNP	G	G	T			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr12:132466657G>T	ENST00000333577.4	+	6	1780	c.1671G>T	c.(1669-1671)ccG>ccT	p.P557P	EP400_ENST00000330386.6_Silent_p.P521P|EP400_ENST00000389562.2_Silent_p.P520P|EP400_ENST00000389561.2_Silent_p.P521P|EP400_ENST00000332482.4_Silent_p.P484P			Q96L91	EP400_HUMAN	E1A binding protein p400	557					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		CCCCCACGCCGCAGGCCGCGC	0.592													100	176					6.09681e-45	7.00598e-45	0.048971	1	0	T	132466657	G	T	132466657	2	4	194	1	0	0	0	0	0	0	0	1	5177	1074	38	5		5	EP400	12	132466657	Silent	SNP	G	TCGA-FG-6692-01A-11D-1893-08	123220511	132466657	1385238	55	24731											
GJA3	2700	broad.mit.edu	37	13	20716908	20716908	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr13:20716908C>T	ENST00000241125.3	-	2	696	c.520G>A	c.(520-522)Gag>Aag	p.E174K		NM_021954.3	NP_068773.2	Q9Y6H8	CXA3_HUMAN	gap junction protein, alpha 3, 46kDa	174					cell-cell signaling|visual perception	connexon complex|integral to membrane				NS(1)|endometrium(1)|kidney(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)	7		all_cancers(29;1.4e-21)|all_epithelial(30;8.75e-19)|all_lung(29;1.28e-17)|Lung SC(185;0.0257)|Ovarian(182;0.0822)		all cancers(112;0.000554)|Epithelial(112;0.000872)|OV - Ovarian serous cystadenocarcinoma(117;0.0105)|Lung(94;0.0251)|LUSC - Lung squamous cell carcinoma(192;0.0784)		GGCTTCAGCTCGAAGCCGTAC	0.597													20	45					0	0	0.069288	0	0	T	20716908	C	T	20716908	3	4	194	1	0	0	0	0	1	0	0	0	6444	893	31	1	791	1	GJA3	13	20716908	Missense_Mutation	SNP	C	TCGA-FG-6692-01A-11D-1893-08		20716908	94452970	56	24732											
DHRS2	10202	broad.mit.edu	37	14	24109024	24109024	+	Missense_Mutation	SNP	G	G	A	rs146408773		TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr14:24109024G>A	ENST00000250383.6	+	4	816	c.340G>A	c.(340-342)Gtc>Atc	p.V114I	DHRS2_ENST00000344777.7_Missense_Mutation_p.V114I|DHRS2_ENST00000553896.1_3'UTR	NM_005794.3	NP_005785.1	Q13268	DHRS2_HUMAN	dehydrogenase/reductase (SDR family) member 2	92					C21-steroid hormone metabolic process|cellular response to oxidative stress|myeloid dendritic cell differentiation|negative regulation of apoptosis|negative regulation of cell proliferation|response to toxin	mitochondrion|nuclear envelope	binding|carbonyl reductase (NADPH) activity			endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14				GBM - Glioblastoma multiforme(265;0.00659)		CTGTGGGGGCGTCGACTTCCT	0.642													33	40					0	0	0.064281	0	0	A	24109024	G	A	24109024	3	1	194	1	0	0	0	0	1	0	0	0	4518	1145	40	1	350	1	DHRS2	14	24109024	Missense_Mutation	SNP	G	TCGA-FG-6692-01A-11D-1893-08		24109024	83240516	57	24733											
LRFN5	145581	broad.mit.edu	37	14	42356700	42356700	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr14:42356700G>A	ENST00000554171.1	+	5	3304	c.872G>A	c.(871-873)cGt>cAt	p.R291H	LRFN5_ENST00000554120.1_Missense_Mutation_p.R291H|LRFN5_ENST00000298119.4_Missense_Mutation_p.R291H			Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	291	Ig-like.					integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		CTCATTACTCGTCATACACAT	0.488										HNSCC(30;0.082)			49	64					0	0	0.045515	0	0	A	42356700	G	A	42356700	3	1	194	1	0	0	0	0	1	0	0	0	8986	1145	40	1	874	1	LRFN5	14	42356700	Missense_Mutation	SNP	G	TCGA-FG-6692-01A-11D-1893-08	18247676	42356700	64992840	58	24734											
FSCB	84075	broad.mit.edu	37	14	44975176	44975176	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr14:44975176C>T	ENST00000340446.4	-	1	1306	c.1015G>A	c.(1015-1017)Gaa>Aaa	p.E339K		NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	339	Pro-rich.					cilium				breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		GGAGACTCTTCAGCTGATGGA	0.517													41	77					0	0	0.092188	0	0	T	44975176	C	T	44975176	3	4	194	1	0	0	0	0	1	0	0	0	6101	835	29	2	1466	2	FSCB	14	44975176	Missense_Mutation	SNP	C	TCGA-FG-6692-01A-11D-1893-08	2618476	44975176	62374364	59	24735											
PRPF39	55015	broad.mit.edu	37	14	45583422	45583422	+	Silent	SNP	G	G	A			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr14:45583422G>A	ENST00000355765.6	+	12	1964	c.1794G>A	c.(1792-1794)ctG>ctA	p.L598L		NM_017922.3	NP_060392.3	Q86UA1	PRP39_HUMAN	pre-mRNA processing factor 39	598					mRNA processing|RNA splicing	nucleus	binding			breast(2)|endometrium(2)|kidney(4)|lung(3)|ovary(1)	12						AAACACTCCTGAAAGAACAGG	0.318													21	34					0	0	0.069288	0	0	A	45583422	G	A	45583422	2	1	194	1	0	0	0	0	0	0	0	1	12621	1277	45	2		2	PRPF39	14	45583422	Silent	SNP	G	TCGA-FG-6692-01A-11D-1893-08	608246	45583422	61766118	60	24736											
LTBP2	4053	broad.mit.edu	37	14	74969480	74969480	+	Silent	SNP	G	G	A			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr14:74969480G>A	ENST00000261978.4	-	34	5432	c.5046C>T	c.(5044-5046)ccC>ccT	p.P1682P	LTBP2_ENST00000556690.1_Silent_p.P1638P	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	1682					protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		CGGTGTCCTCGGGGCCCAGGT	0.632													59	89					0	0	0.048971	0	0	A	74969480	G	A	74969480	2	1	194	1	0	0	0	0	0	0	0	1	9119	1103	39	1		1	LTBP2	14	74969480	Silent	SNP	G	TCGA-FG-6692-01A-11D-1893-08	29386058	74969480	32380060	61	24737											
KCNK10	54207	broad.mit.edu	37	14	88652407	88652407	+	Silent	SNP	G	G	A			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr14:88652407G>A	ENST00000340700.5	-	7	1540	c.1089C>T	c.(1087-1089)caC>caT	p.H363H	KCNK10_ENST00000312350.5_Silent_p.H368H|KCNK10_ENST00000319231.5_Silent_p.H368H	NM_021161.4	NP_066984.1	P57789	KCNKA_HUMAN	potassium channel, subfamily K, member 10	363					signal transduction	integral to membrane	potassium channel activity|voltage-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						GCAGCTTATCGTGGATCTCCA	0.662													21	19					0	0	0.055883	0	0	A	88652407	G	A	88652407	2	1	194	1	0	0	0	0	0	0	0	1	8103	1136	40	1		1	KCNK10	14	88652407	Silent	SNP	G	TCGA-FG-6692-01A-11D-1893-08	13682927	88652407	18697133	62	24738											
VRK1	7443	broad.mit.edu	37	14	97326941	97326941	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr14:97326941G>A	ENST00000216639.3	+	11	1086	c.937G>A	c.(937-939)Gaa>Aaa	p.E313K	VRK1_ENST00000555067.1_3'UTR	NM_003384.2	NP_003375.1	Q99986	VRK1_HUMAN	vaccinia related kinase 1	313	Protein kinase.					cytoplasm|nucleolus	ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|endometrium(1)|large_intestine(5)|lung(3)|skin(1)|stomach(1)	12		Melanoma(154;0.155)		COAD - Colon adenocarcinoma(157;0.234)		AGACTACACTGAAAAACCTCT	0.323													14	20					0	0	0.020292	0	0	A	97326941	G	A	97326941	3	1	194	1	0	0	0	0	1	0	0	0	17279	1291	45	2	975	2	VRK1	14	97326941	Missense_Mutation	SNP	G	TCGA-FG-6692-01A-11D-1893-08	8674534	97326941	10022599	63	24739											
SIVA1	10572	broad.mit.edu	37	14	105222095	105222095	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr14:105222095C>T	ENST00000329967.6	+	2	349	c.247C>T	c.(247-249)Cgt>Tgt	p.R83C	SIVA1_ENST00000347067.5_Intron	NM_006427.3	NP_006418.2	O15304	SIVA_HUMAN	SIVA1, apoptosis-inducing factor	83					activation of caspase activity by cytochrome c|activation-induced cell death of T cells|apoptosis|induction of apoptosis|interspecies interaction between organisms|negative regulation of anti-apoptosis|negative regulation of NF-kappaB transcription factor activity	cytoplasm|mitochondrion|nucleoplasm|nucleus	caspase activator activity|CD27 receptor binding|metal ion binding|viral receptor activity|zinc ion binding			large_intestine(1)|lung(1)|prostate(1)	3		all_cancers(154;0.14)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00153)|OV - Ovarian serous cystadenocarcinoma(23;0.0148)|Epithelial(46;0.0396)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.173)		GAGGGCTGCACGTGGGCAGAT	0.667													16	25					0	0	0.028581	0	0	T	105222095	C	T	105222095	3	4	194	1	0	0	0	0	1	0	0	0	14400	536	19	1	253	1	SIVA1	14	105222095	Missense_Mutation	SNP	C	TCGA-FG-6692-01A-11D-1893-08	7895154	105222095	2127445	64	24740											
NDN	4692	broad.mit.edu	37	15	23932258	23932258	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr15:23932258G>A	ENST00000331837.4	-	1	192	c.107C>T	c.(106-108)gCg>gTg	p.A36V		NM_002487.2	NP_002478.1	Q99608	NECD_HUMAN	necdin, melanoma antigen (MAGE) family member	36					negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perikaryon	DNA binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|skin(1)	39		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		TGCCAGGGTCGCGGACGGAGG	0.701									Prader-Willi syndrome				11	15					0	0	0.069234	0	0	A	23932258	G	A	23932258	3	1	194	1	0	0	0	0	1	0	0	0	10294	1087	38	1	862	1	NDN	15	23932258	Missense_Mutation	SNP	G	TCGA-FG-6692-01A-11D-1893-08		23932258	78599134	65	24741											
E4F1	1877	broad.mit.edu	37	16	2282496	2282496	+	Missense_Mutation	SNP	C	C	T	rs144383218		TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr16:2282496C>T	ENST00000301727.4	+	5	697	c.649C>T	c.(649-651)Cgc>Tgc	p.R217C	E4F1_ENST00000564139.1_Missense_Mutation_p.R217C|E4F1_ENST00000565090.1_Missense_Mutation_p.R217C	NM_004424.3	NP_004415.2	Q66K89	E4F1_HUMAN	E4F transcription factor 1	217	Mediates dimerization, DNA-binding, transcription repression of CCNA2 and interaction with HMGA2.				cell division|cell proliferation|interspecies interaction between organisms|mitosis|regulation of growth	cytoplasm|nucleoplasm	DNA binding|ligase activity|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			ovary(1)	1						TCACAGCAGCCGCAAGGACCA	0.697													14	19					0	0	0.028581	0	0	T	2282496	C	T	2282496	3	4	194	1	0	0	0	0	1	0	0	0	4900	652	23	1	667	1	E4F1	16	2282496	Missense_Mutation	SNP	C	TCGA-FG-6692-01A-11D-1893-08		2282496	88072257	66	24742											
ITGAD	3681	broad.mit.edu	37	16	31405625	31405625	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr16:31405625G>A	ENST00000389202.2	+	2	149	c.100G>A	c.(100-102)Ggc>Agc	p.G34S		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	34					cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity	p.G34C(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						GGATGCAGGCGGCTTTGGGCA	0.582													18	42					0	0	0.043863	0	0	A	31405625	G	A	31405625	3	1	194	1	0	0	0	0	1	0	0	0	7928	1116	39	1	106	1	ITGAD	16	31405625	Missense_Mutation	SNP	G	TCGA-FG-6692-01A-11D-1893-08	29123129	31405625	58949128	67	24743											
JPH3	57338	broad.mit.edu	37	16	87678021	87678021	+	Silent	SNP	C	C	T			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr16:87678021C>T	ENST00000284262.2	+	2	782	c.540C>T	c.(538-540)gaC>gaT	p.D180D		NM_020655.2	NP_065706.2	Q8WXH2	JPH3_HUMAN	junctophilin 3	180					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(80;0.0287)		TGCATCCCGACGCCTCTCCGG	0.697													40	51					0	0	0.092188	0	0	T	87678021	C	T	87678021	2	4	194	1	0	0	0	0	0	0	0	1	8006	535	19	1		1	JPH3	16	87678021	Silent	SNP	C	TCGA-FG-6692-01A-11D-1893-08	56272396	87678021	2676732	68	24744											
FAM64A	54478	broad.mit.edu	37	17	6348675	6348675	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr17:6348675T>C	ENST00000572447.1	+	2	354	c.245T>C	c.(244-246)cTc>cCc	p.L82P	FAM64A_ENST00000572595.2_Missense_Mutation_p.L82P|FAM64A_ENST00000576056.1_Missense_Mutation_p.L82P|FAM64A_ENST00000570337.2_Missense_Mutation_p.L82P|FAM64A_ENST00000250056.8_Missense_Mutation_p.L82P|FAM64A_ENST00000571373.1_Missense_Mutation_p.L82P	NM_019013.2	NP_061886.2	Q9BSJ6	FA64A_HUMAN	family with sequence similarity 64, member A	82						nucleolus	protein binding			breast(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7				COAD - Colon adenocarcinoma(228;0.141)		CAGCAGGGCCTCCAGGCTGCA	0.577													40	43					0	0	0.048971	0	0	C	6348675	T	C	6348675	3	2	194	1	0	0	0	0	1	0	0	0	5633	1551	54	3	247	3	FAM64A	17	6348675	Missense_Mutation	SNP	T	TCGA-FG-6692-01A-11D-1893-08		6348675	74846535	69	24745											
MYH8	4626	broad.mit.edu	37	17	10297737	10297737	+	Silent	SNP	C	C	T			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr17:10297737C>T	ENST00000403437.2	-	35	5089	c.4995G>A	c.(4993-4995)cgG>cgA	p.R1665R	RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1665					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						CCTCCTGGCCCCGGAGAGCAT	0.532									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				30	39					0	0	0.034045	0	0	T	10297737	C	T	10297737	2	4	194	1	0	0	0	0	0	0	0	1	10089	610	22	2		2	MYH8	17	10297737	Silent	SNP	C	TCGA-FG-6692-01A-11D-1893-08	3949062	10297737	70897473	70	24746											
RNF112	7732	broad.mit.edu	37	17	19316707	19316707	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr17:19316707G>A	ENST00000461366.1	+	5	918	c.703G>A	c.(703-705)Ggg>Agg	p.G235R	RNF112_ENST00000580109.1_3'UTR	NM_007148.4	NP_009079.2	Q7Z5V9	Q7Z5V9_HUMAN	ring finger protein 112	235							GTP binding|GTPase activity|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|urinary_tract(1)	12						CTTCTTGCTGGGGAAAGAAGG	0.627													21	27					0	0	0.062417	0	0	A	19316707	G	A	19316707	3	1	194	1	0	0	0	0	1	0	0	0	13478	1232	43	2	431	2	RNF112	17	19316707	Missense_Mutation	SNP	G	TCGA-FG-6692-01A-11D-1893-08	9018970	19316707	61878503	71	24747											
NAGLU	4669	broad.mit.edu	37	17	40695945	40695945	+	Missense_Mutation	SNP	A	A	G			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr17:40695945A>G	ENST00000225927.2	+	6	2022	c.1921A>G	c.(1921-1923)Aac>Gac	p.N641D	RP11-400F19.8_ENST00000585572.1_RNA	NM_000263.3	NP_000254.2	P54802	ANAG_HUMAN	N-acetylglucosaminidase, alpha	641						lysosome	alpha-N-acetylglucosaminidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(1)|ovary(2)|skin(1)	12		all_cancers(22;1.58e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)		BRCA - Breast invasive adenocarcinoma(366;0.13)	N-Acetyl-D-glucosamine(DB00141)	CTACGAGCAGAACAGCCGCTA	0.627													9	9					0	0	0.047766	0	0	G	40695945	A	G	40695945	3	3	194	1	0	0	0	0	1	0	0	0	10191	246	9	3	1943	3	NAGLU	17	40695945	Missense_Mutation	SNP	A	TCGA-FG-6692-01A-11D-1893-08	21379238	40695945	40499265	72	24748											
MPO	4353	broad.mit.edu	37	17	56355470	56355470	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr17:56355470C>T	ENST00000340482.3	-	6	1194	c.1018G>A	c.(1018-1020)Gac>Aac	p.D340N	MPO_ENST00000578493.1_5'UTR|MPO_ENST00000225275.3_Missense_Mutation_p.D308N			P05164	PERM_HUMAN	myeloperoxidase	308					anti-apoptosis|hydrogen peroxide catabolic process|low-density lipoprotein particle remodeling	extracellular space|lysosome|nucleus|stored secretory granule	chromatin binding|heme binding|heparin binding|peroxidase activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	46					Cefdinir(DB00535)	GGGATGCAGTCGGCTTGGTTC	0.622													34	66					0	0	0.074837	0	0	T	56355470	C	T	56355470	3	4	194	1	0	0	0	0	1	0	0	0	9781	884	31	1	1339	1	MPO	17	56355470	Missense_Mutation	SNP	C	TCGA-FG-6692-01A-11D-1893-08	15659525	56355470	24839740	73	24749											
BZRAP1	9256	broad.mit.edu	37	17	56402928	56402928	+	Silent	SNP	C	C	T			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr17:56402928C>T	ENST00000355701.3	-	4	1587	c.717G>A	c.(715-717)agG>agA	p.R239R	BZRAP1-AS1_ENST00000579527.1_RNA|BZRAP1_ENST00000343736.4_Silent_p.R239R|BZRAP1_ENST00000268893.6_Intron	NM_001261835.1|NM_004758.3	NP_001248764.1|NP_004749.2	O95153	RIMB1_HUMAN	benzodiazapine receptor (peripheral) associated protein 1	239						mitochondrion	benzodiazepine receptor binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CCTGCAGCTCCCTGCACTCCC	0.657													25	26					0	0	0.099896	0	0	T	56402928	C	T	56402928	2	4	194	1	0	0	0	0	0	0	0	1	1580	622	22	2		2	BZRAP1	17	56402928	Silent	SNP	C	TCGA-FG-6692-01A-11D-1893-08	47458	56402928	24792282	74	24750											
KCNJ2	3759	broad.mit.edu	37	17	68171691	68171691	+	Missense_Mutation	SNP	A	A	G	rs150326473		TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr17:68171691A>G	ENST00000243457.3	+	2	894	c.511A>G	c.(511-513)Atc>Gtc	p.I171V	KCNJ2_ENST00000535240.1_Missense_Mutation_p.I171V	NM_000891.2	NP_000882.1	P63252	IRK2_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 2	171					synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(13)|skin(1)|urinary_tract(1)	25	Breast(10;1.64e-08)					GGGCTGCATCATCGATGCTTT	0.483													71	102					0	0	0.048971	0	0	G	68171691	A	G	68171691	3	3	194	1	0	0	0	0	1	0	0	0	8095	217	8	3	513	3	KCNJ2	17	68171691	Missense_Mutation	SNP	A	TCGA-FG-6692-01A-11D-1893-08	11768763	68171691	13023519	75	24751											
CANT1	124583	broad.mit.edu	37	17	76991223	76991223	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr17:76991223C>T	ENST00000302345.2	-	3	1206	c.712G>A	c.(712-714)Ggt>Agt	p.G238S	CANT1_ENST00000392446.5_Missense_Mutation_p.G238S|CANT1_ENST00000591773.1_Missense_Mutation_p.G238S	NM_001159773.1|NM_138793.3	NP_001153245.1|NP_620148.1	Q8WVQ1	CANT1_HUMAN	calcium activated nucleotidase 1	238					positive regulation of I-kappaB kinase/NF-kappaB cascade	endoplasmic reticulum membrane|Golgi cisterna membrane|integral to membrane	calcium ion binding|nucleoside-diphosphatase activity|signal transducer activity		CANT1/ETV4(3)	cervix(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)	16			BRCA - Breast invasive adenocarcinoma(99;0.0362)|OV - Ovarian serous cystadenocarcinoma(97;0.139)			ACCACATCACCCGTAGTGGTC	0.627			T	ETV4	prostate								18	24					0	0	0.0333	0	0	T	76991223	C	T	76991223	3	4	194	1	0	0	0	0	1	0	0	0	2635	623	22	2	501	2	CANT1	17	76991223	Missense_Mutation	SNP	C	TCGA-FG-6692-01A-11D-1893-08	8819532	76991223	4203987	76	24752											
RNF213	57674	broad.mit.edu	37	17	78354716	78354716	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr17:78354716C>T	ENST00000582970.1	+	56	13869	c.13726C>T	c.(13726-13728)Cca>Tca	p.P4576S	RNF213_ENST00000336301.6_Missense_Mutation_p.P2649S|RNF213_ENST00000508628.2_Missense_Mutation_p.P4625S|CTD-2047H16.4_ENST00000572151.1_RNA|CTD-2047H16.4_ENST00000575034.1_RNA	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	0										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			AGGGCTGCCCCCAGTGGTCTT	0.597													139	237					0	0	0.048971	0	0	T	78354716	C	T	78354716	3	4	194	1	0	0	0	0	1	0	0	0	13529	623	22	2	14263	2	RNF213	17	78354716	Missense_Mutation	SNP	C	TCGA-FG-6692-01A-11D-1893-08	1363493	78354716	2840494	77	24753											
NPLOC4	55666	broad.mit.edu	37	17	79526328	79526328	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr17:79526328G>A	ENST00000331134.6	-	17	1999	c.1784C>T	c.(1783-1785)cCa>cTa	p.P595L	NPLOC4_ENST00000572760.1_3'UTR|NPLOC4_ENST00000573876.1_3'UTR	NM_017921.2	NP_060391.2	Q8TAT6	NPL4_HUMAN	nuclear protein localization 4 homolog (S. cerevisiae)	595					cellular membrane fusion|ER-associated protein catabolic process|Golgi organization	cytosol|endoplasmic reticulum|nuclear outer membrane-endoplasmic reticulum membrane network|nucleus	zinc ion binding			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	11	all_neural(118;0.0878)|Melanoma(429;0.242)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			GCCTGTGCCTGGCTGGTTCAT	0.672													10	10					0	0	0.080935	0	0	A	79526328	G	A	79526328	3	1	194	1	0	0	0	0	1	0	0	0	10634	1348	47	2	46	2	NPLOC4	17	79526328	Missense_Mutation	SNP	G	TCGA-FG-6692-01A-11D-1893-08	1171612	79526328	1668882	78	24754											
COLEC12	81035	broad.mit.edu	37	18	346546	346546	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr18:346546G>A	ENST00000400256.3	-	5	1283	c.1076C>T	c.(1075-1077)aCg>aTg	p.T359M		NM_130386.2	NP_569057	Q5KU26	COL12_HUMAN	collectin sub-family member 12	359					carbohydrate mediated signaling|innate immune response|phagocytosis, recognition|protein homooligomerization	collagen|integral to membrane	galactose binding|low-density lipoprotein particle binding|metal ion binding|pattern recognition receptor activity|scavenger receptor activity			cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	46		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)				GCTGGTCAGCGTCCGCAGGTG	0.473													35	42					0	0	0.054565	0	0	A	346546	G	A	346546	3	1	194	1	0	0	0	0	1	0	0	0	3735	1145	40	1	1176	1	COLEC12	18	346546	Missense_Mutation	SNP	G	TCGA-FG-6692-01A-11D-1893-08		346546	77730702	79	24755											
WDR7	23335	broad.mit.edu	37	18	54424326	54424326	+	Silent	SNP	G	G	A			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr18:54424326G>A	ENST00000254442.3	+	15	2713	c.2502G>A	c.(2500-2502)tcG>tcA	p.S834S	WDR7_ENST00000357574.3_Silent_p.S834S|WDR7_ENST00000589935.1_Intron	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	834										NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		GCACCGTATCGTTTGGCCTCT	0.493													82	127					0	0	0.048971	0	0	A	54424326	G	A	54424326	2	1	194	1	0	0	0	0	0	0	0	1	17380	1132	40	1		1	WDR7	18	54424326	Silent	SNP	G	TCGA-FG-6692-01A-11D-1893-08	54077780	54424326	23652922	80	24756											
SERPINB7	8710	broad.mit.edu	37	18	61449685	61449685	+	Missense_Mutation	SNP	A	A	T			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr18:61449685A>T	ENST00000398019.2	+	2	404	c.79A>T	c.(79-81)Aat>Tat	p.N27Y	SERPINB7_ENST00000546027.1_Missense_Mutation_p.N27Y|SERPINB7_ENST00000336429.2_Missense_Mutation_p.N27Y|SERPINB7_ENST00000540675.1_Missense_Mutation_p.N27Y	NM_003784.3	NP_003775.1	O75635	SPB7_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 7	27					regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	27		Esophageal squamous(42;0.129)				AGGAAATGGAAATGTGTTCTT	0.507													34	76					0	0	0.064281	0	0	T	61449685	A	T	61449685	3	4	194	1	0	0	0	0	1	0	0	0	14160	14	1	5	81	5	SERPINB7	18	61449685	Missense_Mutation	SNP	A	TCGA-FG-6692-01A-11D-1893-08	7025359	61449685	16627563	81	24757											
ACER1	125981	broad.mit.edu	37	19	6312225	6312225	+	Silent	SNP	G	G	A			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr19:6312225G>A	ENST00000301452.4	-	3	362	c.285C>T	c.(283-285)ctC>ctT	p.L95L		NM_133492.2	NP_597999.1	Q8TDN7	ACER1_HUMAN	alkaline ceramidase 1	95						endoplasmic reticulum membrane|integral to membrane	ceramidase activity			NS(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|pancreas(1)	15						CACTGCCCAGGAGCCACAGGA	0.627													40	102					0	0	0.092188	0	0	A	6312225	G	A	6312225	2	1	194	1	0	0	0	0	0	0	0	1	138	1161	41	2		2	ACER1	19	6312225	Silent	SNP	G	TCGA-FG-6692-01A-11D-1893-08		6312225	52816758	82	24758											
OR1M1	125963	broad.mit.edu	37	19	9204448	9204448	+	Silent	SNP	C	C	T			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr19:9204448C>T	ENST00000429566.3	+	1	594	c.528C>T	c.(526-528)caC>caT	p.H176H		NM_001004456.1	NP_001004456.1	Q8NGA1	OR1M1_HUMAN	olfactory receptor, family 1, subfamily M, member 1	176					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|large_intestine(3)|lung(17)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						AGGTGCCTCACTACTTCTGCG	0.572													62	173					0	0	0.048971	0	0	T	9204448	C	T	9204448	2	4	194	1	0	0	0	0	0	0	0	1	11016	564	20	2		2	OR1M1	19	9204448	Silent	SNP	C	TCGA-FG-6692-01A-11D-1893-08	2892223	9204448	49924535	83	24759											
ZNF441	126068	broad.mit.edu	37	19	11890886	11890886	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr19:11890886G>T	ENST00000357901.4	+	4	349	c.247G>T	c.(247-249)Gga>Tga	p.G83*	ZNF441_ENST00000454339.2_Nonsense_Mutation_p.G16*	NM_152355.2	NP_689568.2	Q8N8Z8	ZN441_HUMAN	zinc finger protein 441	83					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TCAATGTGGAGGACCCTTTAC	0.383													21	71					3.51602e-12	3.93674e-12	0.049695	1	0	T	11890886	G	T	11890886	4	4	194	1	0	0	0	0	0	1	0	0	17971	1001	35	4	261	4	ZNF441	19	11890886	Nonsense_Mutation	SNP	G	TCGA-FG-6692-01A-11D-1893-08	2686438	11890886	47238097	84	24760											
ZNF431	170959	broad.mit.edu	37	19	21366713	21366713	+	Missense_Mutation	SNP	G	G	C			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr19:21366713G>C	ENST00000311048.7	+	5	1751	c.1607G>C	c.(1606-1608)aGa>aCa	p.R536T	ZNF431_ENST00000594425.1_Intron|ZNF431_ENST00000600692.1_3'UTR	NM_133473.2	NP_597730.2	Q8TF32	ZN431_HUMAN	zinc finger protein 431	536					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23						ATTCATACTAGACAGAAACCC	0.323													32	78					0	0	0.050027	0	0	C	21366713	G	C	21366713	3	2	194	1	0	0	0	0	1	0	0	0	17962	942	33	4	1625	4	ZNF431	19	21366713	Missense_Mutation	SNP	G	TCGA-FG-6692-01A-11D-1893-08	9475827	21366713	37762270	85	24761											
ZNF536	9745	broad.mit.edu	37	19	31040141	31040141	+	Silent	SNP	C	C	T			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr19:31040141C>T	ENST00000355537.3	+	4	3762	c.3615C>T	c.(3613-3615)ggC>ggT	p.G1205G		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	1205					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					GCAGCGATGGCGGGGACAGCC	0.597													32	70					0	0	0.050027	0	0	T	31040141	C	T	31040141	2	4	194	1	0	0	0	0	0	0	0	1	18031	755	27	1		1	ZNF536	19	31040141	Silent	SNP	C	TCGA-FG-6692-01A-11D-1893-08	9673428	31040141	28088842	86	24762											
LMTK3	114783	broad.mit.edu	37	19	49000820	49000820	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr19:49000820C>T	ENST00000600059.1	-	11	3733	c.3506G>A	c.(3505-3507)aGg>aAg	p.R1169K	LMTK3_ENST00000270238.3_Missense_Mutation_p.R1198K					lemur tyrosine kinase 3											breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1)	16		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)		CACCTCCGGCCTGGCTCTCGG	0.761													5	19					0	0	0.021553	0	0	T	49000820	C	T	49000820	3	4	194	1	0	0	0	0	1	0	0	0	8901	681	24	2	896	2	LMTK3	19	49000820	Missense_Mutation	SNP	C	TCGA-FG-6692-01A-11D-1893-08	17960679	49000820	10128163	87	24763											
IL4I1	259307	broad.mit.edu	37	19	50393077	50393077	+	Silent	SNP	C	C	T			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr19:50393077C>T	ENST00000595948.1	-	10	2240	c.1620G>A	c.(1618-1620)gaG>gaA	p.E540E	IL4I1_ENST00000341114.3_Silent_p.E540E|IL4I1_ENST00000391826.2_Silent_p.E518E	NM_001258018.1	NP_001244947.1	Q96RQ9	OXLA_HUMAN	interleukin 4 induced 1	518						lysosome	L-amino-acid oxidase activity	p.E540E(1)		endometrium(3)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	16		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00245)|OV - Ovarian serous cystadenocarcinoma(262;0.0169)		ATGCGTGCCCCTCGGGGCTGG	0.687													19	49					0	0	0.055883	0	0	T	50393077	C	T	50393077	2	4	194	1	0	0	0	0	0	0	0	1	7741	680	24	2		2	IL4I1	19	50393077	Silent	SNP	C	TCGA-FG-6692-01A-11D-1893-08	1392257	50393077	8735906	88	24764											
SHANK1	50944	broad.mit.edu	37	19	51175329	51175329	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr19:51175329G>A	ENST00000293441.1	-	21	2638	c.2620C>T	c.(2620-2622)Cgt>Tgt	p.R874C	SHANK1_ENST00000391813.1_Missense_Mutation_p.R261C|SHANK1_ENST00000359082.3_Missense_Mutation_p.R865C|SHANK1_ENST00000391814.1_Missense_Mutation_p.R882C	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	874					cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding	p.R874C(1)		breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		AAAGAAGGACGCTCGTAACTT	0.577													15	36					0	0	0.038395	0	0	A	51175329	G	A	51175329	3	1	194	1	0	0	0	0	1	0	0	0	14319	1087	38	1	3877	1	SHANK1	19	51175329	Missense_Mutation	SNP	G	TCGA-FG-6692-01A-11D-1893-08	782252	51175329	7953654	89	24765											
ZNF331	55422	broad.mit.edu	37	19	54074900	54074900	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr19:54074900G>A	ENST00000253144.9	+	6	1385	c.52G>A	c.(52-54)Gag>Aag	p.E18K	ZNF331_ENST00000449416.1_Missense_Mutation_p.E18K|ZNF331_ENST00000511593.2_Missense_Mutation_p.E18K|ZNF331_ENST00000513999.1_Missense_Mutation_p.E18K|ZNF331_ENST00000511154.1_Missense_Mutation_p.E18K|ZNF331_ENST00000512387.1_Missense_Mutation_p.E18K|ZNF331_ENST00000513265.1_Missense_Mutation_p.E18K|ZNF331_ENST00000411977.2_Missense_Mutation_p.E18K	NM_001253801.1|NM_018555.5	NP_001240730.1|NP_061025.5	Q9NQX6	ZN331_HUMAN	zinc finger protein 331	18	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	10				GBM - Glioblastoma multiforme(134;0.00555)		CTTTTCTCAGGAGGAGTGGGC	0.517			T	?	follicular thyroid adenoma								183	475					0	0	0.048971	0	0	A	54074900	G	A	54074900	3	1	194	1	0	0	0	0	1	0	0	0	17906	1175	41	2	58	2	ZNF331	19	54074900	Missense_Mutation	SNP	G	TCGA-FG-6692-01A-11D-1893-08	2899571	54074900	5054083	90	24766											
CHRDL1	91851	broad.mit.edu	37	X	110002887	110002887	+	Splice_Site	SNP	A	A	T			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chrX:110002887A>T	ENST00000218054.4	-	4	498		c.e4+1		CHRDL1_ENST00000434224.1_Splice_Site|CHRDL1_ENST00000444321.2_Splice_Site|CHRDL1_ENST00000372045.1_Splice_Site|CHRDL1_ENST00000482160.1_Splice_Site|CHRDL1_ENST00000372042.1_Splice_Site|CHRDL1_ENST00000394797.4_Splice_Site	NM_001143981.1|NM_001143982.1|NM_145234.3	NP_001137453.1|NP_001137454.1|NP_660277.2	Q9BU40	CRDL1_HUMAN	chordin-like 1						BMP signaling pathway|cell differentiation|nervous system development|ossification	extracellular region				endometrium(1)|large_intestine(12)|liver(1)|lung(15)|prostate(1)|skin(1)	31						AAATTGCTTTACCTGGGCAGC	0.473													83	18					0	0	0.048971	0	0	T	110002887	A	T	110002887	5	4	194	1	0	0	0	0	0	0	1	0	3395	405	14	5	1109	5	CHRDL1	23	110002887	Splice_Site	SNP	A	TCGA-FG-6692-01A-11D-1893-08		110002887	45267673	91	24767											
OR10J5	127385	broad.mit.edu	37	1	159505463	159505463	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-7634-01A-11D-2086-08	TCGA-FG-7634-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc668076-5204-4c1b-8591-9ad354c15a6d	a5d74526-2420-4363-859f-becb06afe263	g.chr1:159505463C>T	ENST00000334857.2	-	1	379	c.335G>A	c.(334-336)tGc>tAc	p.C112Y		NM_001004469.1	NP_001004469.1	Q8NHC4	O10J5_HUMAN	olfactory receptor, family 10, subfamily J, member 5	112					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	22	all_hematologic(112;0.0429)					AAGCAGGAAGCAATTATTAGT	0.468													39	50					0	0	1	0	0	T	159505463	C	T	159505463	3	4	195	1	0	0	0	0	1	0	0	0	10960	710	25	2	596	2	OR10J5	1	159505463	Missense_Mutation	SNP	C	TCGA-FG-7634-01A-11D-2086-08		159505463	89745158	1	24768											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-FG-7634-01A-11D-2086-08	TCGA-FG-7634-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc668076-5204-4c1b-8591-9ad354c15a6d	a5d74526-2420-4363-859f-becb06afe263	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	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								38	55					0	0	1	0	0	T	209113112	C	T	209113112	3	4	195	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-FG-7634-01A-11D-2086-08		209113112	34086261	2	24769											
GLB1L	79411	broad.mit.edu	37	2	220103270	220103270	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-7634-01A-11D-2086-08	TCGA-FG-7634-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc668076-5204-4c1b-8591-9ad354c15a6d	a5d74526-2420-4363-859f-becb06afe263	g.chr2:220103270G>A	ENST00000295759.7	-	13	1487	c.1174C>T	c.(1174-1176)Ccc>Tcc	p.P392S	GLB1L_ENST00000356283.3_Missense_Mutation_p.P302S|GLB1L_ENST00000409640.1_Missense_Mutation_p.P302S|GLB1L_ENST00000392089.2_Missense_Mutation_p.P392S|GLB1L_ENST00000497855.1_5'UTR			Q6UWU2	GLB1L_HUMAN	galactosidase, beta 1-like	392					carbohydrate metabolic process	extracellular region	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22		all_lung(227;1.19e-05)|Lung NSC(271;2.76e-05)|Medulloblastoma(418;0.0208)|Esophageal squamous(248;0.0559)		Epithelial(149;1.3e-11)|all cancers(144;2.07e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGCCCACGGGGGCAAAGCAAG	0.448													35	65					0	0	1	0	0	A	220103270	G	A	220103270	3	1	195	1	0	0	0	0	1	0	0	0	6470	1232	43	2	810	2	GLB1L	2	220103270	Missense_Mutation	SNP	G	TCGA-FG-7634-01A-11D-2086-08	10990158	220103270	23096103	3	24770											
ZNF148	7707	broad.mit.edu	37	3	124952387	124952387	+	Frame_Shift_Del	DEL	T	T	-			TCGA-FG-7634-01A-11D-2086-08	TCGA-FG-7634-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc668076-5204-4c1b-8591-9ad354c15a6d	a5d74526-2420-4363-859f-becb06afe263	g.chr3:124952387delT	ENST00000360647.4	-	9	1668	c.1183delA	c.(1183-1185)attfs	p.I395fs	ZNF148_ENST00000497929.1_5'UTR|ZNF148_ENST00000485866.1_Frame_Shift_Del_p.I395fs|ZNF148_ENST00000544464.1_Intron|ZNF148_ENST00000492394.1_Frame_Shift_Del_p.I395fs|ZNF148_ENST00000484491.1_Frame_Shift_Del_p.I395fs|SLC12A8_ENST00000423114.2_Intron|ZNF148_ENST00000468369.1_Intron	NM_021964.2	NP_068799.2	Q9UQR1	ZN148_HUMAN	zinc finger protein 148	395					cellular defense response|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|zinc ion binding			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)	28						TTACTATTAATTTTTTTGAGA	0.383													46	22	---	---	---	---						-	124952387	T	-	124952387	7	5	195	1	0	1	0	1	0	0	0	0	17792	1493	52	0	1205	0	ZNF148	3	124952387	Frame_Shift_Del	DEL	T	TCGA-FG-7634-01A-11D-2086-08		124952387	73070043	4	24771											
ACAD11	84129	broad.mit.edu	37	3	132277850	132277850	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-7634-01A-11D-2086-08	TCGA-FG-7634-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc668076-5204-4c1b-8591-9ad354c15a6d	a5d74526-2420-4363-859f-becb06afe263	g.chr3:132277850G>A	ENST00000264990.6	-	20	3279	c.2308C>T	c.(2308-2310)Cgg>Tgg	p.R770W	ACAD11_ENST00000545291.1_Missense_Mutation_p.R295W|ACAD11_ENST00000355458.3_Missense_Mutation_p.R666W	NM_032169.4	NP_115545			acyl-CoA dehydrogenase family, member 11											breast(2)|endometrium(6)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	36						GCTTGGTCCCGCAGCTCCATT	0.463													3	51					0	0	1	0	0	A	132277850	G	A	132277850	3	1	195	1	0	0	0	0	1	0	0	0	109	1086	38	1	38	1	ACAD11	3	132277850	Missense_Mutation	SNP	G	TCGA-FG-7634-01A-11D-2086-08	7325463	132277850	65744580	5	24772											
PIK3CA	5290	broad.mit.edu	37	3	178916645	178916645	+	Missense_Mutation	SNP	G	G	C			TCGA-FG-7634-01A-11D-2086-08	TCGA-FG-7634-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc668076-5204-4c1b-8591-9ad354c15a6d	a5d74526-2420-4363-859f-becb06afe263	g.chr3:178916645G>C	ENST00000263967.3	+	2	189	c.32G>C	c.(31-33)tGg>tCg	p.W11S		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	11					epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.W11L(2)|p.L10_M16del(1)|p.E9_R19del(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			GGTGAACTGTGGGGCATCCAC	0.403		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			29	28					0	0	1	0	0	C	178916645	G	C	178916645	3	2	195	1	0	0	0	0	1	0	0	0	11961	1357	47	5	34	5	PIK3CA	3	178916645	Missense_Mutation	SNP	G	TCGA-FG-7634-01A-11D-2086-08	46638795	178916645	19105785	6	24773											
PCDH7	5099	broad.mit.edu	37	4	30725853	30725853	+	Missense_Mutation	SNP	G	G	C			TCGA-FG-7634-01A-11D-2086-08	TCGA-FG-7634-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc668076-5204-4c1b-8591-9ad354c15a6d	a5d74526-2420-4363-859f-becb06afe263	g.chr4:30725853G>C	ENST00000361762.2	+	1	3817	c.2809G>C	c.(2809-2811)Gac>Cac	p.D937H	PCDH7_ENST00000543491.1_Missense_Mutation_p.D937H	NM_002589.2	NP_002580.2	O60245	PCDH7_HUMAN	protocadherin 7	937					homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						GCCTAAAAAGGACAAGAAAAA	0.398													14	34					0	0	1	0	0	C	30725853	G	C	30725853	3	2	195	1	0	0	0	0	1	0	0	0	11563	1174	41	5	2811	5	PCDH7	4	30725853	Missense_Mutation	SNP	G	TCGA-FG-7634-01A-11D-2086-08		30725853	160428423	7	24774											
GABRA4	2557	broad.mit.edu	37	4	46967171	46967171	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-7634-01A-11D-2086-08	TCGA-FG-7634-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc668076-5204-4c1b-8591-9ad354c15a6d	a5d74526-2420-4363-859f-becb06afe263	g.chr4:46967171G>A	ENST00000264318.3	-	8	1932	c.950C>T	c.(949-951)aCc>aTc	p.T317I		NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 4	317					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	GTCCATGGCGGTAGCATAGGA	0.433													4	145					0	0	1	0	0	A	46967171	G	A	46967171	3	1	195	1	0	0	0	0	1	0	0	0	6198	1261	44	2	722	2	GABRA4	4	46967171	Missense_Mutation	SNP	G	TCGA-FG-7634-01A-11D-2086-08	16241318	46967171	144187105	8	24775											
BEND3	57673	broad.mit.edu	37	6	107391126	107391126	+	Silent	SNP	G	G	A			TCGA-FG-7634-01A-11D-2086-08	TCGA-FG-7634-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc668076-5204-4c1b-8591-9ad354c15a6d	a5d74526-2420-4363-859f-becb06afe263	g.chr6:107391126G>A	ENST00000429433.2	-	5	1918	c.1269C>T	c.(1267-1269)ttC>ttT	p.F423F	BEND3_ENST00000369042.1_Silent_p.F423F	NM_001080450.2	NP_001073919.1	Q5T5X7	BEND3_HUMAN	BEN domain containing 3	423	BEN 2.									central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(7)|lung(10)|ovary(4)|prostate(3)	30						TGCGGTGGTCGAAGAGCTCGG	0.622													3	60					0	0	1	0	0	A	107391126	G	A	107391126	2	1	195	1	0	0	0	0	0	0	0	1	1397	1049	37	1		1	BEND3	6	107391126	Silent	SNP	G	TCGA-FG-7634-01A-11D-2086-08		107391126	63723941	9	24776											
ABCB4	5244	broad.mit.edu	37	7	87074281	87074282	+	Frame_Shift_Ins	INS	-	-	A			TCGA-FG-7634-01A-11D-2086-08	TCGA-FG-7634-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc668076-5204-4c1b-8591-9ad354c15a6d	a5d74526-2420-4363-859f-becb06afe263	g.chr7:87074281_87074282insA	ENST00000265723.4	-	10	1126_1127	c.1015_1016insT	c.(1015-1017)tcafs	p.S339fs	ABCB4_ENST00000453593.1_Frame_Shift_Ins_p.S339fs|ABCB4_ENST00000358400.3_Frame_Shift_Ins_p.S339fs|ABCB4_ENST00000545634.1_Frame_Shift_Ins_p.S339fs|ABCB4_ENST00000359206.3_Frame_Shift_Ins_p.S339fs	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	339	ABC transmembrane type-1 1.				cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity	p.S339fs*3(1)		breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)					AATTAGGATTGAAAAAAAAACC	0.347													7	42	---	---	---	---						A	87074282	-	A	87074281	7	5	195	1	0	1	1	0	0	0	0	0	43	1294	45	0	2920	0	ABCB4	7	87074281	Frame_Shift_Ins	INS	-	TCGA-FG-7634-01A-11D-2086-08		87074281	72064382	10	24777											
EPHX2	2053	broad.mit.edu	37	8	27401706	27401706	+	Missense_Mutation	SNP	C	C	A			TCGA-FG-7634-01A-11D-2086-08	TCGA-FG-7634-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc668076-5204-4c1b-8591-9ad354c15a6d	a5d74526-2420-4363-859f-becb06afe263	g.chr8:27401706C>A	ENST00000521400.1	+	18	1964	c.1534C>A	c.(1534-1536)Ccc>Acc	p.P512T	EPHX2_ENST00000521780.1_Missense_Mutation_p.P446T|EPHX2_ENST00000518379.1_Missense_Mutation_p.P480T|EPHX2_ENST00000517536.1_Missense_Mutation_p.P329T|EPHX2_ENST00000380476.3_Missense_Mutation_p.P459T	NM_001979.5	NP_001970.2	P34913	HYES_HUMAN	epoxide hydrolase 2, cytoplasmic	512	Epoxide hydrolase.				aromatic compound catabolic process|cellular calcium ion homeostasis|drug metabolic process|inflammatory response|positive regulation of vasodilation|reactive oxygen species metabolic process|regulation of blood pressure|response to toxin|xenobiotic metabolic process	cytosol|focal adhesion|Golgi apparatus|nucleolus|peroxisome|soluble fraction	epoxide hydrolase activity|metal ion binding|protein homodimerization activity			cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1)	27		Ovarian(32;2.61e-05)|all_epithelial(46;0.207)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0226)|Epithelial(17;1.12e-09)|Colorectal(74;0.157)	Tamoxifen(DB00675)	CTTTCAGATTCCCCACCTGAA	0.572													50	132					1.77791e-30	1.77791e-30	1	1	0	A	27401706	C	A	27401706	3	1	195	1	0	0	0	0	1	0	0	0	5208	855	30	5	1604	5	EPHX2	8	27401706	Missense_Mutation	SNP	C	TCGA-FG-7634-01A-11D-2086-08		27401706	118962316	11	24778											
PLIN2	123	broad.mit.edu	37	9	19116570	19116570	+	Silent	SNP	G	G	A			TCGA-FG-7634-01A-11D-2086-08	TCGA-FG-7634-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc668076-5204-4c1b-8591-9ad354c15a6d	a5d74526-2420-4363-859f-becb06afe263	g.chr9:19116570G>A	ENST00000276914.2	-	8	1169	c.990C>T	c.(988-990)tcC>tcT	p.S330S	PLIN2_ENST00000411567.1_Silent_p.S249S	NM_001122.3	NP_001113.2	Q99541	PLIN2_HUMAN	perilipin 2	330					cellular lipid metabolic process	endoplasmic reticulum|extracellular region|lipid particle				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	19						CTTGGATGTTGGACAGGAGGG	0.493													4	158					0	0	1	0	0	A	19116570	G	A	19116570	2	1	195	1	0	0	0	0	0	0	0	1	12138	1335	47	2		2	PLIN2	9	19116570	Silent	SNP	G	TCGA-FG-7634-01A-11D-2086-08		19116570	122096861	12	24779											
ABCA1	19	broad.mit.edu	37	9	107645364	107645364	+	Missense_Mutation	SNP	C	C	T	rs138438101		TCGA-FG-7634-01A-11D-2086-08	TCGA-FG-7634-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc668076-5204-4c1b-8591-9ad354c15a6d	a5d74526-2420-4363-859f-becb06afe263	g.chr9:107645364C>T	ENST00000374736.3	-	5	771	c.377G>A	c.(376-378)cGc>cAc	p.R126H	ABCA1_ENST00000374733.1_Missense_Mutation_p.R66H|ABCA1_ENST00000423487.2_Missense_Mutation_p.R126H	NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	126					Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding	p.R126H(1)		NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	CAGAACTTTGCGCATGTCCTT	0.453													6	64					0	0	1	0	0	T	107645364	C	T	107645364	3	4	195	1	0	0	0	0	1	0	0	0	28	768	27	1	6592	1	ABCA1	9	107645364	Missense_Mutation	SNP	C	TCGA-FG-7634-01A-11D-2086-08	88528794	107645364	33568067	13	24780											
PDE6C	5146	broad.mit.edu	37	10	95381756	95381756	+	Missense_Mutation	SNP	C	C	T	rs143673530	byFrequency	TCGA-FG-7634-01A-11D-2086-08	TCGA-FG-7634-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc668076-5204-4c1b-8591-9ad354c15a6d	a5d74526-2420-4363-859f-becb06afe263	g.chr10:95381756C>T	ENST00000371447.3	+	4	929	c.791C>T	c.(790-792)gCg>gTg	p.A264V		NM_006204.3	NP_006195.3	P51160	PDE6C_HUMAN	phosphodiesterase 6C, cGMP-specific, cone, alpha prime	264	GAF 2.				visual perception	plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|metal ion binding			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.123)				TTTCACAAAGCGCTCTACACG	0.388													36	57					0	0	1	0	0	T	95381756	C	T	95381756	3	4	195	1	0	0	0	0	1	0	0	0	11694	768	27	1	805	1	PDE6C	10	95381756	Missense_Mutation	SNP	C	TCGA-FG-7634-01A-11D-2086-08		95381756	40152991	14	24781											
F2	2147	broad.mit.edu	37	11	46742097	46742097	+	Splice_Site	SNP	G	G	A			TCGA-FG-7634-01A-11D-2086-08	TCGA-FG-7634-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc668076-5204-4c1b-8591-9ad354c15a6d	a5d74526-2420-4363-859f-becb06afe263	g.chr11:46742097G>A	ENST00000311907.5	+	3	321	c.265G>A	c.(265-267)Gct>Act	p.A89T	F2_ENST00000530231.1_Splice_Site_p.A89T	NM_000506.3	NP_000497.1	P00734	THRB_HUMAN	coagulation factor II (thrombin)	89	Gla.				activation of caspase activity|acute-phase response|blood coagulation, intrinsic pathway|cell surface receptor linked signaling pathway|cytosolic calcium ion homeostasis|fibrinolysis|leukocyte migration|negative regulation of astrocyte differentiation|negative regulation of fibrinolysis|negative regulation of platelet activation|negative regulation of proteolysis|peptidyl-glutamic acid carboxylation|platelet activation|positive regulation of collagen biosynthetic process|positive regulation of protein phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of release of sequestered calcium ion into cytosol|post-translational protein modification|proteolysis|STAT protein import into nucleus|tyrosine phosphorylation of STAT protein	cytosol|endoplasmic reticulum lumen|extracellular space|Golgi lumen|plasma membrane|soluble fraction	calcium ion binding|growth factor activity|serine-type endopeptidase activity|thrombospondin receptor activity			endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	27		all_lung(304;0.000414)|Lung NSC(402;0.0011)		BRCA - Breast invasive adenocarcinoma(625;0.146)	Antihemophilic Factor(DB00025)|Argatroban(DB00278)|Bivalirudin(DB00006)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)|Enoxaparin(DB01225)|Heparin(DB01109)|Lepirudin(DB00001)|Menadione(DB00170)|Proflavine(DB01123)|Simvastatin(DB00641)|Suramin(DB04786)|Warfarin(DB00682)|Ximelagatran(DB04898)	CAAGTACACAGGTGAGCACCG	0.532													4	106					0	0	1	0	0	A	46742097	G	A	46742097	5	1	195	1	0	0	0	0	0	0	1	0	5370	1014	35	2	275	2	F2	11	46742097	Splice_Site	SNP	G	TCGA-FG-7634-01A-11D-2086-08		46742097	88264419	15	24782											
OR4A5	81318	broad.mit.edu	37	11	51411931	51411931	+	Silent	SNP	C	C	T	rs140587389	byFrequency	TCGA-FG-7634-01A-11D-2086-08	TCGA-FG-7634-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc668076-5204-4c1b-8591-9ad354c15a6d	a5d74526-2420-4363-859f-becb06afe263	g.chr11:51411931C>T	ENST00000319760.6	-	1	517	c.465G>A	c.(463-465)gcG>gcA	p.A155A		NM_001005272.3	NP_001005272.3	Q8NH83	OR4A5_HUMAN	olfactory receptor, family 4, subfamily A, member 5	155					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A155A(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49		all_lung(304;0.236)				CAATTTGAAACGCAGAATGTA	0.453													21	32					0	0	1	0	0	T	51411931	C	T	51411931	2	4	195	1	0	0	0	0	0	0	0	1	11091	523	19	1		1	OR4A5	11	51411931	Silent	SNP	C	TCGA-FG-7634-01A-11D-2086-08	4669834	51411931	83594585	16	24783											
IQSEC3	440073	broad.mit.edu	37	12	280470	280470	+	Missense_Mutation	SNP	A	A	T			TCGA-FG-7634-01A-11D-2086-08	TCGA-FG-7634-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc668076-5204-4c1b-8591-9ad354c15a6d	a5d74526-2420-4363-859f-becb06afe263	g.chr12:280470A>T	ENST00000382841.2	+	13	2675	c.2263A>T	c.(2263-2265)Att>Ttt	p.I755F	IQSEC3_ENST00000538872.1_Intron|IQSEC3_ENST00000326261.4_Intron|IQSEC3_ENST00000537151.1_Intron|RP11-598F7.6_ENST00000537295.1_lincRNA	NM_015232.1	NP_056047.1	Q9UPP2	IQEC3_HUMAN	IQ motif and Sec7 domain 3	0	SEC7.				regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)		AAGAGATACAATTAAAAGTTA	0.493													55	84					0	0	1	0	0	T	280470	A	T	280470	3	4	195	1	0	0	0	0	1	0	0	0	7863	101	4	4	3226	4	IQSEC3	12	280470	Missense_Mutation	SNP	A	TCGA-FG-7634-01A-11D-2086-08		280470	133571425	17	24784											
DNAH10	196385	broad.mit.edu	37	12	124358200	124358200	+	Silent	SNP	C	C	T			TCGA-FG-7634-01A-11D-2086-08	TCGA-FG-7634-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc668076-5204-4c1b-8591-9ad354c15a6d	a5d74526-2420-4363-859f-becb06afe263	g.chr12:124358200C>T	ENST00000409039.3	+	45	7552	c.7527C>T	c.(7525-7527)taC>taT	p.Y2509Y		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	2509	AAA 3 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		AAGATACTTACGGCCCACCCA	0.473													6	14					0	0	1	0	0	T	124358200	C	T	124358200	2	4	195	1	0	0	0	0	0	0	0	1	4626	547	19	1		1	DNAH10	12	124358200	Silent	SNP	C	TCGA-FG-7634-01A-11D-2086-08	124077730	124358200	9493695	18	24785											
PCDH9	5101	broad.mit.edu	37	13	67800158	67800158	+	Silent	SNP	T	T	C			TCGA-FG-7634-01A-11D-2086-08	TCGA-FG-7634-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc668076-5204-4c1b-8591-9ad354c15a6d	a5d74526-2420-4363-859f-becb06afe263	g.chr13:67800158T>C	ENST00000544246.1	-	2	3106	c.2415A>G	c.(2413-2415)caA>caG	p.Q805Q	PCDH9_ENST00000377861.3_Silent_p.Q805Q|PCDH9_ENST00000456367.1_Silent_p.Q805Q|PCDH9_ENST00000377865.2_Silent_p.Q805Q|PCDH9_ENST00000328454.5_Silent_p.Q805Q	NM_203487.2	NP_982354.1	Q9HC56	PCDH9_HUMAN	protocadherin 9	805					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		TTTGATAGGGTTGGCTACTAT	0.483													13	180					0	0	1	0	0	C	67800158	T	C	67800158	2	2	195	1	0	0	0	0	0	0	0	1	11565	1722	60	3		3	PCDH9	13	67800158	Silent	SNP	T	TCGA-FG-7634-01A-11D-2086-08		67800158	47369720	19	24786											
SFTA3	253970	broad.mit.edu	37	14	36946257	36946257	+	Silent	SNP	G	G	A			TCGA-FG-7634-01A-11D-2086-08	TCGA-FG-7634-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc668076-5204-4c1b-8591-9ad354c15a6d	a5d74526-2420-4363-859f-becb06afe263	g.chr14:36946257G>A	ENST00000518529.2	-	3	855	c.180C>T	c.(178-180)tgC>tgT	p.C60C	RP11-896J10.3_ENST00000521945.1_RNA|SFTA3_ENST00000518987.1_Intron	NM_001101341.1	NP_001094811.1	P0C7M3	SFTA3_HUMAN	surfactant associated 3	60								p.C60C(1)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|skin(1)	7						GACTTGGCACGCAAACAGCGA	0.517													9	142					0	0	1	0	0	A	36946257	G	A	36946257	2	1	195	1	0	0	0	0	0	0	0	1	14242	1079	38	1		1	SFTA3	14	36946257	Silent	SNP	G	TCGA-FG-7634-01A-11D-2086-08		36946257	70403283	20	24787											
SLFN11	91607	broad.mit.edu	37	17	33679774	33679774	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FG-7634-01A-11D-2086-08	TCGA-FG-7634-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc668076-5204-4c1b-8591-9ad354c15a6d	a5d74526-2420-4363-859f-becb06afe263	g.chr17:33679774C>T	ENST00000394566.1	-	7	2579	c.2307G>A	c.(2305-2307)tgG>tgA	p.W769*	SLFN11_ENST00000308377.4_Nonsense_Mutation_p.W769*	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	769						nucleus	ATP binding			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)		CACCCTGGGACCATTCGGCTT	0.443													19	30					0	0	1	0	0	T	33679774	C	T	33679774	4	4	195	1	0	0	0	0	0	1	0	0	14788	508	18	2	402	2	SLFN11	17	33679774	Nonsense_Mutation	SNP	C	TCGA-FG-7634-01A-11D-2086-08		33679774	47515436	21	24788											
CDK12	51755	broad.mit.edu	37	17	37676268	37676268	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-7634-01A-11D-2086-08	TCGA-FG-7634-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc668076-5204-4c1b-8591-9ad354c15a6d	a5d74526-2420-4363-859f-becb06afe263	g.chr17:37676268G>A	ENST00000447079.4	+	11	3056	c.3023G>A	c.(3022-3024)cGg>cAg	p.R1008Q	CDK12_ENST00000430627.2_Missense_Mutation_p.R1008Q	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	1008	Protein kinase.				mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						CCTAGTAAGCGGTGCACAGCT	0.473			"Mis, N, F"		serous ovarian					TCGA Ovarian(9;0.13)			59	160					0	0	1	0	0	A	37676268	G	A	37676268	3	1	195	1	0	0	0	0	1	0	0	0	3150	1116	39	1	3065	1	CDK12	17	37676268	Missense_Mutation	SNP	G	TCGA-FG-7634-01A-11D-2086-08	3996494	37676268	43518942	22	24789											
ACE	1636	broad.mit.edu	37	17	61560474	61560474	+	Frame_Shift_Del	DEL	G	G	-			TCGA-FG-7634-01A-11D-2086-08	TCGA-FG-7634-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc668076-5204-4c1b-8591-9ad354c15a6d	a5d74526-2420-4363-859f-becb06afe263	g.chr17:61560474delG	ENST00000290866.4	+	9	1451	c.1427delG	c.(1426-1428)tggfs	p.W476fs	ACE_ENST00000584529.1_Intron|ACE_ENST00000428043.1_Frame_Shift_Del_p.W476fs|ACE_ENST00000538928.1_Intron	NM_000789.3	NP_000780.1	P12821	ACE_HUMAN	angiotensin I converting enzyme	476	Peptidase M2 1.				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	CAGTGGCGCTGGGGGGTCTTT	0.532													8	377	---	---	---	---						-	61560474	G	-	61560474	7	5	195	1	0	1	0	1	0	0	0	0	136	1357	47	0	1461	0	ACE	17	61560474	Frame_Shift_Del	DEL	G	TCGA-FG-7634-01A-11D-2086-08	23884206	61560474	19634736	23	24790											
SEH1L	81929	broad.mit.edu	37	18	12955479	12955479	+	Silent	SNP	A	A	G	rs140218685	byFrequency	TCGA-FG-7634-01A-11D-2086-08	TCGA-FG-7634-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc668076-5204-4c1b-8591-9ad354c15a6d	a5d74526-2420-4363-859f-becb06afe263	g.chr18:12955479A>G	ENST00000262124.11	+	3	307	c.180A>G	c.(178-180)gtA>gtG	p.V60V	SEH1L_ENST00000399892.2_Silent_p.V60V	NM_031216.3	NP_112493.2	Q96EE3	SEH1_HUMAN	SEH1-like (S. cerevisiae)	60					attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|carbohydrate metabolic process|cell division|glucose transport|mitotic metaphase plate congression|mitotic prometaphase|mRNA transport|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	11						GTGGATCTGTATGGCGTGTGA	0.398													4	83					0	0	1	0	0	G	12955479	A	G	12955479	2	3	195	1	0	0	0	0	0	0	0	1	14063	436	16	3		3	SEH1L	18	12955479	Silent	SNP	A	TCGA-FG-7634-01A-11D-2086-08		12955479	65121769	24	24791											
CLEC17A	388512	broad.mit.edu	37	19	14694175	14694176	+	In_Frame_Ins	INS	-	-	GGA	rs34295949		TCGA-FG-7634-01A-11D-2086-08	TCGA-FG-7634-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc668076-5204-4c1b-8591-9ad354c15a6d	a5d74526-2420-4363-859f-becb06afe263	g.chr19:14694175_14694176insGGA	ENST00000547437.1	+	2	127_128	c.50_51insGGA	c.(49-54)atggag>atGGAggag	p.22_23insE	CLEC17A_ENST00000417570.1_In_Frame_Ins_p.22_23insE|CLEC17A_ENST00000397439.2_In_Frame_Ins_p.22_23insE	NM_207390.3	NP_997273.3	Q6ZS10	CL17A_HUMAN	C-type lectin domain family 17, member A	22	Poly-Glu.					cell surface|integral to membrane	fucose binding|mannose binding|metal ion binding|receptor activity										GAAGGGACCATGGAGGAGGAGG	0.579													4	8	---	---	---	---						GGA	14694176	-	GGA	14694175	7	5	195	1	0	1	1	0	0	0	0	0	3524	1464	51	0	56	0	CLEC17A	19	14694175	In_Frame_Ins	INS	-	TCGA-FG-7634-01A-11D-2086-08		14694175	44434808	25	24792											
CIC	23152	broad.mit.edu	37	19	42798840	42798840	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-7634-01A-11D-2086-08	TCGA-FG-7634-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc668076-5204-4c1b-8591-9ad354c15a6d	a5d74526-2420-4363-859f-becb06afe263	g.chr19:42798840G>A	ENST00000572681.2	+	20	7198	c.7130G>A	c.(7129-7131)cGg>cAg	p.R2377Q	CIC_ENST00000160740.3_Missense_Mutation_p.R1469Q|CIC_ENST00000575354.2_Missense_Mutation_p.R1471Q			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	1471					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				GACCAGCGCCGGGCCCTGGTC	0.612			"Mis, F, S"		oligodendroglioma								33	24					0	0	1	0	0	A	42798840	G	A	42798840	3	1	195	1	0	0	0	0	1	0	0	0	3446	1116	39	1	4486	1	CIC	19	42798840	Missense_Mutation	SNP	G	TCGA-FG-7634-01A-11D-2086-08	28104665	42798840	16330143	26	24793											
ZNF347	84671	broad.mit.edu	37	19	53652555	53652555	+	Silent	SNP	G	G	A			TCGA-FG-7634-01A-11D-2086-08	TCGA-FG-7634-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc668076-5204-4c1b-8591-9ad354c15a6d	a5d74526-2420-4363-859f-becb06afe263	g.chr19:53652555G>A	ENST00000452676.2	-	3	507	c.81C>T	c.(79-81)ccC>ccT	p.P27P	ZNF347_ENST00000601469.2_Silent_p.P27P|ZNF347_ENST00000334197.7_Silent_p.P27P|ZNF347_ENST00000601804.1_Intron	NM_001172674.1	NP_001166145.1	Q96SE7	ZN347_HUMAN	zinc finger protein 347	27	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.P27P(1)		endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		TCCTCTGAGCGGGGTCCAGGC	0.502													49	45					0	0	1	0	0	A	53652555	G	A	53652555	2	1	195	1	0	0	0	0	0	0	0	1	17918	1103	39	1		1	ZNF347	19	53652555	Silent	SNP	G	TCGA-FG-7634-01A-11D-2086-08	10853715	53652555	5476428	27	24794											
LILRA2	11027	broad.mit.edu	37	19	55086389	55086389	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-7634-01A-11D-2086-08	TCGA-FG-7634-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc668076-5204-4c1b-8591-9ad354c15a6d	a5d74526-2420-4363-859f-becb06afe263	g.chr19:55086389G>A	ENST00000251377.3	+	5	677	c.544G>A	c.(544-546)Gtg>Atg	p.V182M	LILRA2_ENST00000391738.3_Missense_Mutation_p.V182M|LILRB1_ENST00000396321.2_Intron|LILRA2_ENST00000251376.3_Missense_Mutation_p.V182M|LILRB1_ENST00000448689.1_Intron|LILRA2_ENST00000391737.1_Missense_Mutation_p.V170M|LILRB1_ENST00000418536.2_Intron					leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2									p.V182M(1)		breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50				GBM - Glioblastoma multiforme(193;0.0963)		CATCTTCTCCGTGGGCCCCGT	0.562													60	39					0	0	1	0	0	A	55086389	G	A	55086389	3	1	195	1	0	0	0	0	1	0	0	0	8825	1145	40	1	558	1	LILRA2	19	55086389	Missense_Mutation	SNP	G	TCGA-FG-7634-01A-11D-2086-08	1433834	55086389	4042594	28	24795											
GGA1	26088	broad.mit.edu	37	22	38014515	38014515	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-7634-01A-11D-2086-08	TCGA-FG-7634-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc668076-5204-4c1b-8591-9ad354c15a6d	a5d74526-2420-4363-859f-becb06afe263	g.chr22:38014515C>T	ENST00000406772.1	+	5	698	c.46C>T	c.(46-48)Cgc>Tgc	p.R16C	GGA1_ENST00000343632.4_Missense_Mutation_p.R89C|GGA1_ENST00000381756.5_Missense_Mutation_p.R106C|GGA1_ENST00000325180.8_Missense_Mutation_p.R89C|GGA1_ENST00000337437.4_Intron|GGA1_ENST00000405147.3_Missense_Mutation_p.R89C	NM_001172688.1	NP_001166159.1	Q9UJY5	GGA1_HUMAN	golgi-associated, gamma adaptin ear containing, ARF binding protein 1	89					intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|endosome membrane|Golgi apparatus part	protein binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	10	Melanoma(58;0.0574)					GGGCAAGTTCCGCTTTCTCAA	0.617													4	51					0	0	1	0	0	T	38014515	C	T	38014515	3	4	195	1	0	0	0	0	1	0	0	0	6394	652	23	1	345	1	GGA1	22	38014515	Missense_Mutation	SNP	C	TCGA-FG-7634-01A-11D-2086-08		38014515	13290051	29	24796											
CELSR1	9620	broad.mit.edu	37	22	46790148	46790148	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-7634-01A-11D-2086-08	TCGA-FG-7634-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc668076-5204-4c1b-8591-9ad354c15a6d	a5d74526-2420-4363-859f-becb06afe263	g.chr22:46790148G>A	ENST00000262738.3	-	14	5854	c.5855C>T	c.(5854-5856)cCg>cTg	p.P1952L		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	1952	EGF-like 7; calcium-binding.				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		TCTGGGGCACGGAAGGTCGAG	0.562													5	44					0	0	1	0	0	A	46790148	G	A	46790148	3	1	195	1	0	0	0	0	1	0	0	0	3243	1116	39	1	3277	1	CELSR1	22	46790148	Missense_Mutation	SNP	G	TCGA-FG-7634-01A-11D-2086-08	8775633	46790148	4514418	30	24797											
PLEKHN1	84069	broad.mit.edu	37	1	907741	907741	+	Silent	SNP	C	C	T			TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr1:907741C>T	ENST00000379409.2	+	9	1125	c.1095C>T	c.(1093-1095)cgC>cgT	p.R365R	PLEKHN1_ENST00000379410.3_Silent_p.R313R|PLEKHN1_ENST00000379407.3_Silent_p.R325R			Q494U1	PKHN1_HUMAN	pleckstrin homology domain containing, family N member 1	365	PH 2.									central_nervous_system(1)|endometrium(3)|kidney(1)|lung(2)|skin(1)|urinary_tract(1)	9	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.00095)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)		TGTGCCTTCGCGCTGTCACCC	0.677													5	18					0	0	1	0	0	T	907741	C	T	907741	2	4	196	1	0	0	0	0	0	0	0	1	12131	755	27	1		1	PLEKHN1	1	907741	Silent	SNP	C	TCGA-FG-7636-01A-11D-2086-08		907741	248342880	1	24798											
PKLR	5313	broad.mit.edu	37	1	155261708	155261708	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr1:155261708C>T	ENST00000392414.3	-	10	1477	c.1364G>A	c.(1363-1365)cGg>cAg	p.R455Q	PKLR_ENST00000342741.4_Missense_Mutation_p.R486Q	NM_181871.3	NP_870986.1	P30613	KPYR_HUMAN	pyruvate kinase, liver and RBC	486					endocrine pancreas development|energy reserve metabolic process|glycolysis|positive regulation of cellular metabolic process	cytosol	ATP binding|magnesium ion binding|potassium ion binding|pyruvate kinase activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(78;6.99e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;3.18e-10)|all cancers(21;7.9e-10)|BRCA - Breast invasive adenocarcinoma(34;0.00116)|LUSC - Lung squamous cell carcinoma(543;0.127)		Pyruvic acid(DB00119)	AGGTCGGTACCGAGACAGAAG	0.577													16	69					0	0	1	0	0	T	155261708	C	T	155261708	3	4	196	1	0	0	0	0	1	0	0	0	12024	652	23	1	275	1	PKLR	1	155261708	Missense_Mutation	SNP	C	TCGA-FG-7636-01A-11D-2086-08	154353967	155261708	93988913	2	24799											
IGSF8	93185	broad.mit.edu	37	1	160064985	160064985	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr1:160064985C>T	ENST00000368086.1	-	2	332	c.116G>A	c.(115-117)cGc>cAc	p.R39H	IGSF8_ENST00000460351.1_5'UTR|IGSF8_ENST00000314485.7_Missense_Mutation_p.R39H			Q969P0	IGSF8_HUMAN	immunoglobulin superfamily, member 8	39	Ig-like C2-type 1.				cell proliferation|cellular component movement|nervous system development|single fertilization|skeletal muscle tissue development	integral to membrane	protein binding	p.R39L(2)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(19)|pancreas(1)|prostate(1)|skin(1)	33	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			GCCAGCCACGCGGTACAAGGG	0.617													9	36					0	0	1	0	0	T	160064985	C	T	160064985	3	4	196	1	0	0	0	0	1	0	0	0	7648	768	27	1	1745	1	IGSF8	1	160064985	Missense_Mutation	SNP	C	TCGA-FG-7636-01A-11D-2086-08	4803277	160064985	89185636	3	24800											
ADCY10	55811	broad.mit.edu	37	1	167870982	167870982	+	Silent	SNP	C	C	T			TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr1:167870982C>T	ENST00000367848.1	-	5	575	c.78G>A	c.(76-78)gtG>gtA	p.V26V	ADCY10_ENST00000367851.4_Silent_p.V118V|ADCY10_ENST00000545172.1_Intron			Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	118					intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						ATTTAATTACCACTGTGATAA	0.498													11	221					0	0	1	0	0	T	167870982	C	T	167870982	2	4	196	1	0	0	0	0	0	0	0	1	292	581	21	2		2	ADCY10	1	167870982	Silent	SNP	C	TCGA-FG-7636-01A-11D-2086-08	7805997	167870982	81379639	4	24801											
CACNA1S	779	broad.mit.edu	37	1	201046152	201046152	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr1:201046152G>A	ENST00000362061.3	-	12	1949	c.1723C>T	c.(1723-1725)Ctc>Ttc	p.L575F	CACNA1S_ENST00000367338.3_Missense_Mutation_p.L575F	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	575					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	ATGCCCAGGAGGGCGAAGATG	0.567													7	129					0	0	1	0	0	A	201046152	G	A	201046152	3	1	196	1	0	0	0	0	1	0	0	0	2565	1000	35	2	4030	2	CACNA1S	1	201046152	Missense_Mutation	SNP	G	TCGA-FG-7636-01A-11D-2086-08	33175170	201046152	48204469	5	24802											
CENPF	1063	broad.mit.edu	37	1	214803886	214803886	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr1:214803886C>T	ENST00000366955.3	+	9	1372	c.1204C>T	c.(1204-1206)Cgt>Tgt	p.R402C		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	402	Interaction with SNAP25 and required for localization to the cytoplasm (By similarity).				cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding	p.R402S(1)		NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		GGAGCTCTCCCGTCAACAGCG	0.537													33	217					0	0	1	0	0	T	214803886	C	T	214803886	3	4	196	1	0	0	0	0	1	0	0	0	3253	652	23	1	1234	1	CENPF	1	214803886	Missense_Mutation	SNP	C	TCGA-FG-7636-01A-11D-2086-08	13757734	214803886	34446735	6	24803											
WDR26	80232	broad.mit.edu	37	1	224621758	224621760	+	In_Frame_Del	DEL	CCG	CCG	-			TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr1:224621758_224621760delCCG	ENST00000414423.2	-	1	241_243	c.48_50delCGG	c.(46-51)ggcggt>ggt	p.16_17GG>G	WDR26_ENST00000295024.6_5'UTR|WDR26_ENST00000366852.2_In_Frame_Del_p.16_17GG>G	NM_001115113.2|NM_025160.6	NP_001108585.2|NP_079436.4	Q9H7D7	WDR26_HUMAN	WD repeat domain 26	16						cytoplasm|nucleus				biliary_tract(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)	18				GBM - Glioblastoma multiforme(131;0.0104)		tcctcctccaccgccgccgccgc	0.729													2	4	---	---	---	---						-	224621760	CCG	-	224621758	7	5	196	1	0	1	0	1	0	0	0	0	17343	507	18	0	1991	0	WDR26	1	224621758	In_Frame_Del	DEL	CCG	TCGA-FG-7636-01A-11D-2086-08	9817872	224621758	24628863	7	24804											
OR2M3	127062	broad.mit.edu	37	1	248366731	248366731	+	Missense_Mutation	SNP	A	A	G			TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr1:248366731A>G	ENST00000456743.1	+	1	400	c.362A>G	c.(361-363)gAc>gGc	p.D121G		NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M, member 3	121					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			ATGGCTTATGACCGCTACACT	0.463													20	234					0	0	1	0	0	G	248366731	A	G	248366731	3	3	196	1	0	0	0	0	1	0	0	0	11059	275	10	3	364	3	OR2M3	1	248366731	Missense_Mutation	SNP	A	TCGA-FG-7636-01A-11D-2086-08	23744973	248366731	883890	8	24805											
LRP1B	53353	broad.mit.edu	37	2	141739804	141739804	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr2:141739804G>A	ENST00000389484.3	-	18	3783	c.2812C>T	c.(2812-2814)Cgt>Tgt	p.R938C		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	938	LDL-receptor class A 5.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GGAATGCAACGCCCATTTCCG	0.423										TSP Lung(27;0.18)			16	85					0	0	1	0	0	A	141739804	G	A	141739804	3	1	196	1	0	0	0	0	1	0	0	0	9000	1087	38	1	11283	1	LRP1B	2	141739804	Missense_Mutation	SNP	G	TCGA-FG-7636-01A-11D-2086-08		141739804	101459569	9	24806											
ACVR2A	92	broad.mit.edu	37	2	148653873	148653873	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr2:148653873C>T	ENST00000241416.7	+	2	695	c.59C>T	c.(58-60)gCt>gTt	p.A20V	ACVR2A_ENST00000404590.1_Missense_Mutation_p.A20V|ACVR2A_ENST00000535787.1_Intron	NM_001278579.1|NM_001278580.1|NM_001616.3	NP_001265508.1|NP_001265509.1|NP_001607.1	P27037	AVR2A_HUMAN	activin A receptor, type IIA	20					activin receptor signaling pathway|BMP signaling pathway|positive regulation of activin receptor signaling pathway|positive regulation of bone mineralization|positive regulation of erythrocyte differentiation|positive regulation of osteoblast differentiation|positive regulation of protein phosphorylation	cytoplasm|inhibin-betaglycan-ActRII complex|integral to plasma membrane	ATP binding|coreceptor activity|inhibin beta-A binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta receptor activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(5)|large_intestine(14)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(8)	45				BRCA - Breast invasive adenocarcinoma(221;0.0969)		CTTATAGGTGCTATACTTGGT	0.333													13	64					0	0	1	0	0	T	148653873	C	T	148653873	3	4	196	1	0	0	0	0	1	0	0	0	222	797	28	2	65	2	ACVR2A	2	148653873	Missense_Mutation	SNP	C	TCGA-FG-7636-01A-11D-2086-08	6914069	148653873	94545500	10	24807											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								36	48					0	0	1	0	0	T	209113112	C	T	209113112	3	4	196	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-FG-7636-01A-11D-2086-08	60459239	209113112	34086261	11	24808											
KLHL30	377007	broad.mit.edu	37	2	239050040	239050040	+	Silent	SNP	G	G	A			TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr2:239050040G>A	ENST00000409223.1	+	2	752	c.645G>A	c.(643-645)ctG>ctA	p.L215L	KLHL30_ENST00000305959.4_Silent_p.L197L			Q0D2K2	KLH30_HUMAN	kelch-like family member 30	215	BACK.									lung(4)	4		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		CCGCCCACCTGCCCGAGCTGC	0.706													3	8					0	0	1	0	0	A	239050040	G	A	239050040	2	1	196	1	0	0	0	0	0	0	0	1	8427	1306	46	2		2	KLHL30	2	239050040	Silent	SNP	G	TCGA-FG-7636-01A-11D-2086-08	29936928	239050040	4149333	12	24809											
SMARCC1	6599	broad.mit.edu	37	3	47719787	47719787	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr3:47719787C>T	ENST00000254480.5	-	16	1591	c.1472G>A	c.(1471-1473)cGa>cAa	p.R491Q	SMARCC1_ENST00000425518.1_5'UTR	NM_003074.3	NP_003065.3	Q92922	SMRC1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1	491	SWIRM.				chromatin remodeling|nervous system development|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex|WINAC complex	DNA binding|protein N-terminus binding|transcription coactivator activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33				BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)		CATAAAATTTCGATATGCCAA	0.388													8	151					0	0	1	0	0	T	47719787	C	T	47719787	3	4	196	1	0	0	0	0	1	0	0	0	14829	884	31	1	1897	1	SMARCC1	3	47719787	Missense_Mutation	SNP	C	TCGA-FG-7636-01A-11D-2086-08		47719787	150302643	13	24810											
KNG1	3827	broad.mit.edu	37	3	186450325	186450325	+	Silent	SNP	C	C	T			TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr3:186450325C>T	ENST00000265023.4	+	7	1004	c.792C>T	c.(790-792)tgC>tgT	p.C264C	KNG1_ENST00000447445.1_Silent_p.C228C|RP11-573D15.8_ENST00000599314.1_RNA|KNG1_ENST00000287611.2_Silent_p.C264C	NM_001102416.2	NP_001095886.1	P01042	KNG1_HUMAN	kininogen 1	264	Cystatin 3.				blood coagulation, intrinsic pathway|elevation of cytosolic calcium ion concentration|inflammatory response|negative regulation of blood coagulation|negative regulation of cell adhesion|platelet activation|platelet degranulation|positive regulation of apoptosis|positive regulation of renal sodium excretion|positive regulation of urine volume|smooth muscle contraction|vasodilation	extracellular space|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding|receptor binding|zinc ion binding			endometrium(1)|lung(15)|prostate(1)|skin(2)|stomach(2)	21	all_cancers(143;8.96e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;4.12e-20)	GBM - Glioblastoma multiforme(93;0.0798)	Ouabain(DB01092)	CCAAGATTTGCGTGGGCTGCC	0.488													4	144					0	0	1	0	0	T	186450325	C	T	186450325	2	4	196	1	0	0	0	0	0	0	0	1	8470	776	27	1		1	KNG1	3	186450325	Silent	SNP	C	TCGA-FG-7636-01A-11D-2086-08	138730538	186450325	11572105	14	24811											
ZBTB49	166793	broad.mit.edu	37	4	4304568	4304568	+	Silent	SNP	G	G	A			TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr4:4304568G>A	ENST00000337872.4	+	3	1126	c.1005G>A	c.(1003-1005)aaG>aaA	p.K335K	ZBTB49_ENST00000538529.1_5'UTR|ZBTB49_ENST00000355834.3_Silent_p.K335K	NM_145291.3	NP_660334.3	Q6ZSB9	ZBT49_HUMAN	zinc finger and BTB domain containing 49	335					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	28						GTTTGACAAAGAGGTTGGAAT	0.398													24	30					0	0	1	0	0	A	4304568	G	A	4304568	2	1	196	1	0	0	0	0	0	0	0	1	17609	933	33	2		2	ZBTB49	4	4304568	Silent	SNP	G	TCGA-FG-7636-01A-11D-2086-08		4304568	186849708	15	24812											
GUF1	60558	broad.mit.edu	37	4	44693681	44693681	+	Splice_Site	SNP	A	A	G			TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr4:44693681A>G	ENST00000281543.5	+	13	1673		c.e13-1		GUF1_ENST00000506793.1_Splice_Site	NM_021927.2	NP_068746.2	Q8N442	GUF1_HUMAN	GUF1 GTPase homolog (S. cerevisiae)						translation	mitochondrial inner membrane	GTP binding|GTPase activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	19						TTCCCTTTTTAGGCTCGAAGA	0.299													8	128					0	0	1	0	0	G	44693681	A	G	44693681	5	3	196	1	0	0	0	0	0	0	1	0	6940	434	15	3	1528	3	GUF1	4	44693681	Splice_Site	SNP	A	TCGA-FG-7636-01A-11D-2086-08	40389113	44693681	146460595	16	24813											
AREG	374	broad.mit.edu	37	4	75312475	75312475	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr4:75312475T>C	ENST00000395748.3	+	2	498	c.286T>C	c.(286-288)Tat>Cat	p.Y96H	AREG_ENST00000264487.2_Missense_Mutation_p.Y96H|AREG_ENST00000502307.1_Missense_Mutation_p.Y96H	NM_001657.2	NP_001648.1	P15514	AREG_HUMAN	amphiregulin	96					cell proliferation|cell-cell signaling|epidermal growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|positive regulation of DNA replication	cell surface|extracellular space|integral to membrane	cytokine activity|growth factor activity			lung(4)	4			Lung(101;0.196)			AATACCTGGCTATATTGTCGA	0.443													5	131					0	0	1	0	0	C	75312475	T	C	75312475	3	2	196	1	0	0	0	0	1	0	0	0	840	1522	53	3	292	3	AREG	4	75312475	Missense_Mutation	SNP	T	TCGA-FG-7636-01A-11D-2086-08	30618794	75312475	115841801	17	24814											
SLC10A6	345274	broad.mit.edu	37	4	87770048	87770048	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr4:87770048C>T	ENST00000273905.6	-	1	368	c.221G>A	c.(220-222)tGc>tAc	p.C74Y	SLC10A6_ENST00000505535.1_5'UTR	NM_197965.2	NP_932069.1	Q3KNW5	SOAT_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 6	74						integral to membrane|plasma membrane	bile acid:sodium symporter activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	9		Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248)		OV - Ovarian serous cystadenocarcinoma(123;0.00099)		CCCAAACTGGCAGAGCAGTCC	0.542													6	34					0	0	1	0	0	T	87770048	C	T	87770048	3	4	196	1	0	0	0	0	1	0	0	0	14433	710	25	2	936	2	SLC10A6	4	87770048	Missense_Mutation	SNP	C	TCGA-FG-7636-01A-11D-2086-08	12457573	87770048	103384228	18	24815											
FHDC1	85462	broad.mit.edu	37	4	153897446	153897446	+	Missense_Mutation	SNP	G	G	C			TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr4:153897446G>C	ENST00000511601.1	+	12	3191	c.3003G>C	c.(3001-3003)aaG>aaC	p.K1001N	FHDC1_ENST00000260008.3_Missense_Mutation_p.K1001N			Q9C0D6	FHDC1_HUMAN	FH2 domain containing 1	1001					actin cytoskeleton organization		actin binding		ARFIP1/FHDC1(2)	NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43	all_hematologic(180;0.093)					AGGAAAATAAGACCTGCCGCG	0.632													4	36					0	0	1	0	0	C	153897446	G	C	153897446	3	2	196	1	0	0	0	0	1	0	0	0	5909	933	33	4	3045	4	FHDC1	4	153897446	Missense_Mutation	SNP	G	TCGA-FG-7636-01A-11D-2086-08	66127398	153897446	37256830	19	24816											
NPY1R	4886	broad.mit.edu	37	4	164246852	164246852	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr4:164246852T>C	ENST00000296533.2	-	3	1289	c.758A>G	c.(757-759)tAc>tGc	p.Y253C	NPY1R_ENST00000509586.1_Missense_Mutation_p.Y10C	NM_000909.5	NP_000900.1	P25929	NPY1R_HUMAN	neuropeptide Y receptor Y1	253					inhibition of adenylate cyclase activity by G-protein signaling pathway|outflow tract morphogenesis	integral to plasma membrane	protein binding			breast(1)|cervix(1)|large_intestine(4)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)	30	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				ACTGGACCTGTACTTATTGTC	0.368													11	30					0	0	1	0	0	C	164246852	T	C	164246852	3	2	196	1	0	0	0	0	1	0	0	0	10656	1638	57	3	400	3	NPY1R	4	164246852	Missense_Mutation	SNP	T	TCGA-FG-7636-01A-11D-2086-08	10349406	164246852	26907424	20	24817											
FAM169A	26049	broad.mit.edu	37	5	74130350	74130350	+	Silent	SNP	T	T	G			TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr5:74130350T>G	ENST00000389156.4	-	5	481	c.391A>C	c.(391-393)Aga>Cga	p.R131R	FAM169A_ENST00000510496.1_Silent_p.R131R|FAM169A_ENST00000380515.3_Intron	NM_015566.2	NP_056381.1	Q9Y6X4	F169A_HUMAN	family with sequence similarity 169, member A	131										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	27						ATCTCATTTCTCTCCATTTCC	0.418													3	50					0	0	1	0	0	G	74130350	T	G	74130350	2	3	196	1	0	0	0	0	0	0	0	1	5517	1559	54	5		5	FAM169A	5	74130350	Silent	SNP	T	TCGA-FG-7636-01A-11D-2086-08		74130350	106784910	21	24818											
PCDHA7	56141	broad.mit.edu	37	5	140214183	140214183	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr5:140214183G>A	ENST00000525929.1	+	1	215	c.215G>A	c.(214-216)gGg>gAg	p.G72E	PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA7_ENST00000378125.3_Missense_Mutation_p.G72E|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018910.2	NP_061733.1														NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAATTCCGTGGGGATCTTCTG	0.617													8	273					0	0	1	0	0	A	140214183	G	A	140214183	3	1	196	1	0	0	0	0	1	0	0	0	11576	1232	43	2	217	2	PCDHA7	5	140214183	Missense_Mutation	SNP	G	TCGA-FG-7636-01A-11D-2086-08	66083833	140214183	40701077	22	24819											
VARS	7407	broad.mit.edu	37	6	31747885	31747885	+	Silent	SNP	G	G	A			TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr6:31747885G>A	ENST00000375663.3	-	26	3411	c.2971C>T	c.(2971-2973)Ctg>Ttg	p.L991L		NM_006295.2	NP_006286.1	P26640	SYVC_HUMAN	valyl-tRNA synthetase	991					translational elongation|valyl-tRNA aminoacylation	cytosol	ATP binding|protein binding|valine-tRNA ligase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	30					L-Valine(DB00161)	GCCTCTGTCAGGCGGCTGCGG	0.647													10	57					0	0	1	0	0	A	31747885	G	A	31747885	2	1	196	1	0	0	0	0	0	0	0	1	17183	991	35	2		2	VARS	6	31747885	Silent	SNP	G	TCGA-FG-7636-01A-11D-2086-08		31747885	139367182	23	24820											
NOTCH4	4855	broad.mit.edu	37	6	32188018	32188018	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr6:32188018G>T	ENST00000375023.3	-	7	1341	c.1203C>A	c.(1201-1203)tgC>tgA	p.C401*		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	401	EGF-like 10.				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						CATCCCCATGGCACGGCTGGC	0.622													13	76					8.60227e-14	9.19147e-14	1	1	0	T	32188018	G	T	32188018	4	4	196	1	0	0	0	0	0	1	0	0	10598	1195	42	5	4904	5	NOTCH4	6	32188018	Nonsense_Mutation	SNP	G	TCGA-FG-7636-01A-11D-2086-08	440133	32188018	138927049	24	24821											
PKHD1	5314	broad.mit.edu	37	6	51799071	51799071	+	Silent	SNP	G	G	A			TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr6:51799071G>A	ENST00000371117.3	-	37	6233	c.5958C>T	c.(5956-5958)caC>caT	p.H1986H	PKHD1_ENST00000340994.4_Silent_p.H1986H	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	1986	G8 1.				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)					CAAGGATGGCGTGTGCCCTGA	0.537											OREG0017491	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	122					0	0	1	0	0	A	51799071	G	A	51799071	2	1	196	1	0	0	0	0	0	0	0	1	12019	1136	40	1		1	PKHD1	6	51799071	Silent	SNP	G	TCGA-FG-7636-01A-11D-2086-08	19611053	51799071	119315996	25	24822											
NCOA7	135112	broad.mit.edu	37	6	126210341	126210341	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr6:126210341T>C	ENST00000368357.3	+	10	1493	c.1141T>C	c.(1141-1143)Tcc>Ccc	p.S381P	NCOA7_ENST00000229634.9_Missense_Mutation_p.S266P|NCOA7_ENST00000392477.2_Missense_Mutation_p.S381P	NM_001199619.1|NM_001199620.1	NP_001186548.1|NP_001186549.1	Q8NI08	NCOA7_HUMAN	nuclear receptor coactivator 7	381					cell wall macromolecule catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(2)	39				UCEC - Uterine corpus endometrioid carcinoma (4;0.0803)|GBM - Glioblastoma multiforme(226;0.0193)|all cancers(137;0.237)		TAGGGAGACATCCCATGGTTC	0.458													7	31					0	0	1	0	0	C	126210341	T	C	126210341	3	2	196	1	0	0	0	0	1	0	0	0	10281	1435	50	3	1171	3	NCOA7	6	126210341	Missense_Mutation	SNP	T	TCGA-FG-7636-01A-11D-2086-08	74411270	126210341	44904726	26	24823											
TIAM2	26230	broad.mit.edu	37	6	155458449	155458449	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr6:155458449T>C	ENST00000461783.3	+	7	2606	c.1333T>C	c.(1333-1335)Tcc>Ccc	p.S445P	TIAM2_ENST00000456144.1_Missense_Mutation_p.S445P|TIAM2_ENST00000367174.2_5'UTR|TIAM2_ENST00000360366.4_Missense_Mutation_p.S445P|TIAM2_ENST00000318981.5_Missense_Mutation_p.S445P|TIAM2_ENST00000529824.2_Missense_Mutation_p.S445P			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	445					apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		GAGAAGTGAATCCACACATGC	0.498													4	124					0	0	1	0	0	C	155458449	T	C	155458449	3	2	196	1	0	0	0	0	1	0	0	0	15951	1435	50	3	1339	3	TIAM2	6	155458449	Missense_Mutation	SNP	T	TCGA-FG-7636-01A-11D-2086-08	29248108	155458449	15656618	27	24824											
NRCAM	4897	broad.mit.edu	37	7	107823139	107823139	+	Splice_Site	SNP	G	G	A			TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr7:107823139G>A	ENST00000379028.3	-	23	3000	c.2530C>T	c.(2530-2532)Ctc>Ttc	p.L844F	NRCAM_ENST00000379024.4_Splice_Site_p.L825F|NRCAM_ENST00000351718.4_Splice_Site_p.L828F|NRCAM_ENST00000413765.2_Splice_Site_p.L825F|NRCAM_ENST00000379022.4_Splice_Site_p.L844F|NRCAM_ENST00000425651.2_Splice_Site_p.L844F			Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	844					angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						CATCACTTACGGTCTTCTCCA	0.522													19	35					0	0	1	0	0	A	107823139	G	A	107823139	5	1	196	1	0	0	0	0	0	0	1	0	10692	1130	39	1	1458	1	NRCAM	7	107823139	Splice_Site	SNP	G	TCGA-FG-7636-01A-11D-2086-08		107823139	51315524	28	24825											
CCDC136	64753	broad.mit.edu	37	7	128432468	128432468	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr7:128432468G>A	ENST00000464832.1	+	2	197	c.153G>A	c.(151-153)atG>atA	p.M51I	CCDC136_ENST00000378685.4_Missense_Mutation_p.M51I|CCDC136_ENST00000297788.4_Start_Codon_SNP_p.M1I|CCDC136_ENST00000487361.1_Start_Codon_SNP_p.M1I			Q96JN2	CC136_HUMAN	coiled-coil domain containing 136	1	Glu-rich.					integral to membrane	protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)	24						GACGGGGGATGCAAGCTATGG	0.582													15	62					0	0	1	0	0	A	128432468	G	A	128432468	3	1	196	1	0	0	0	0	1	0	0	0	2788	1319	46	2	5	2	CCDC136	7	128432468	Missense_Mutation	SNP	G	TCGA-FG-7636-01A-11D-2086-08	20609329	128432468	30706195	29	24826											
TET1	80312	broad.mit.edu	37	10	70451205	70451205	+	Silent	SNP	C	C	T			TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr10:70451205C>T	ENST00000373644.4	+	12	6254	c.6045C>T	c.(6043-6045)caC>caT	p.H2015H		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	2015					DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						CACCTGCTCACGGCTCGGTTT	0.532													81	138					0	0	1	0	0	T	70451205	C	T	70451205	2	4	196	1	0	0	0	0	0	0	0	1	15828	535	19	1		1	TET1	10	70451205	Silent	SNP	C	TCGA-FG-7636-01A-11D-2086-08		70451205	65083542	30	24827											
MUC2	4583	broad.mit.edu	37	11	1086051	1086051	+	Missense_Mutation	SNP	C	C	T	rs72655318		TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr11:1086051C>T	ENST00000441003.2	+	22	2918	c.2891C>T	c.(2890-2892)aCg>aTg	p.T964M	MUC2_ENST00000359061.5_Missense_Mutation_p.T964M	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	964	VWFD 3.					inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	GAGTCCAGCACGGGCATCATC	0.632													20	28					0	0	1	0	0	T	1086051	C	T	1086051	3	4	196	1	0	0	0	0	1	0	0	0	10023	536	19	1	2977	1	MUC2	11	1086051	Missense_Mutation	SNP	C	TCGA-FG-7636-01A-11D-2086-08		1086051	133920465	31	24828											
ZNF143	7702	broad.mit.edu	37	11	9499964	9499964	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr11:9499964C>T	ENST00000396602.2	+	6	520	c.401C>T	c.(400-402)gCg>gTg	p.A134V	ZNF143_ENST00000396597.3_Missense_Mutation_p.A103V|ZNF143_ENST00000396604.1_Missense_Mutation_p.A133V|ZNF143_ENST00000530463.1_Missense_Mutation_p.A133V|ZNF143_ENST00000299606.2_Missense_Mutation_p.A106V	NM_001282656.1|NM_001282657.1|NM_003442.5	NP_001269585.1|NP_001269586.1|NP_003433.3	P52747	ZN143_HUMAN	zinc finger protein 143	134					regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding|zinc ion binding			endometrium(1)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	13				all cancers(16;4.12e-09)|Epithelial(150;2.29e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0212)		GCATTACAGGCGGTTCAGCTG	0.433													64	89					0	0	1	0	0	T	9499964	C	T	9499964	3	4	196	1	0	0	0	0	1	0	0	0	17790	768	27	1	419	1	ZNF143	11	9499964	Missense_Mutation	SNP	C	TCGA-FG-7636-01A-11D-2086-08	8413913	9499964	125506552	32	24829											
AGBL2	79841	broad.mit.edu	37	11	47726176	47726176	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr11:47726176T>C	ENST00000525123.1	-	7	790	c.505A>G	c.(505-507)Att>Gtt	p.I169V	AGBL2_ENST00000529712.1_5'UTR|AGBL2_ENST00000298861.4_Missense_Mutation_p.I169V|AGBL2_ENST00000528244.1_Missense_Mutation_p.I131V|AGBL2_ENST00000357610.3_Missense_Mutation_p.I169V	NM_024783.3	NP_079059.2	Q5U5Z8	CBPC2_HUMAN	ATP/GTP binding protein-like 2	169					proteolysis	cytosol	metallocarboxypeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)	34						GTAGACAAAATGGAAAAGAGC	0.428													15	61					0	0	1	0	0	C	47726176	T	C	47726176	3	2	196	1	0	0	0	0	1	0	0	0	373	1464	51	3	2255	3	AGBL2	11	47726176	Missense_Mutation	SNP	T	TCGA-FG-7636-01A-11D-2086-08	38226212	47726176	87280340	33	24830											
VPS37C	55048	broad.mit.edu	37	11	60899568	60899569	+	Frame_Shift_Del	DEL	CC	CC	-			TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr11:60899568_60899569delCC	ENST00000301765.5	-	5	1023_1024	c.791_792delGG	c.(790-792)aggfs	p.R264fs		NM_017966.4	NP_060436.4	A5D8V6	VP37C_HUMAN	vacuolar protein sorting 37 homolog C (S. cerevisiae)	264	Pro-rich.				cellular membrane organization|endosome transport|protein transport	late endosome membrane				breast(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7						GTGGCATGCTCCTCTGTGGGGA	0.693													2	4	---	---	---	---						-	60899569	CC	-	60899568	7	5	196	1	0	1	0	1	0	0	0	0	17267	854	30	0	279	0	VPS37C	11	60899568	Frame_Shift_Del	DEL	CC	TCGA-FG-7636-01A-11D-2086-08	13173392	60899568	74106948	34	24831											
RTN3	10313	broad.mit.edu	37	11	63487064	63487064	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr11:63487064G>A	ENST00000377819.5	+	3	1244	c.1090G>A	c.(1090-1092)Gga>Aga	p.G364R	RTN3_ENST00000341307.2_Intron|RTN3_ENST00000356000.3_Intron|RTN3_ENST00000537981.1_Intron|RTN3_ENST00000354497.4_Intron|RTN3_ENST00000540798.1_Missense_Mutation_p.G252R|RTN3_ENST00000339997.4_Missense_Mutation_p.G345R	NM_001265589.1	NP_001252518.1	O95197	RTN3_HUMAN	reticulon 3	364					apoptosis|endoplasmic reticulum tubular network organization|interspecies interaction between organisms|response to stress|vesicle-mediated transport	endoplasmic reticulum membrane|extracellular space|Golgi membrane|integral to membrane				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	20						AAAAACTACAGGACTTGACAT	0.373													3	57					0	0	1	0	0	A	63487064	G	A	63487064	3	1	196	1	0	0	0	0	1	0	0	0	13779	1001	35	2	1100	2	RTN3	11	63487064	Missense_Mutation	SNP	G	TCGA-FG-7636-01A-11D-2086-08	2587496	63487064	71519452	35	24832											
RNF121	55298	broad.mit.edu	37	11	71671806	71671806	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr11:71671806G>A	ENST00000361756.3	+	3	473	c.112G>A	c.(112-114)Gca>Aca	p.A38T	RNF121_ENST00000533380.1_Missense_Mutation_p.A6T|RNF121_ENST00000545854.1_5'UTR|RNF121_ENST00000490867.1_3'UTR|RNF121_ENST00000393713.3_Missense_Mutation_p.A6T|RNF121_ENST00000530137.1_Missense_Mutation_p.A6T	NM_018320.4	NP_060790.2	Q9H920	RN121_HUMAN	ring finger protein 121	38						integral to membrane	zinc ion binding			endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|urinary_tract(1)	13						GGTCGAGCACGCACGCATGCA	0.542													4	94					0	0	1	0	0	A	71671806	G	A	71671806	3	1	196	1	0	0	0	0	1	0	0	0	13483	1087	38	1	122	1	RNF121	11	71671806	Missense_Mutation	SNP	G	TCGA-FG-7636-01A-11D-2086-08	8184742	71671806	63334710	36	24833											
BIRC2	329	broad.mit.edu	37	11	102221141	102221141	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr11:102221141G>A	ENST00000227758.2	+	2	1955	c.556G>A	c.(556-558)Gcc>Acc	p.A186T	BIRC2_ENST00000527910.1_3'UTR|BIRC2_ENST00000530675.1_Missense_Mutation_p.A137T|BIRC2_ENST00000532672.1_Missense_Mutation_p.A165T	NM_001166.4|NM_001256163.1	NP_001157.1|NP_001243092.1	Q13490	BIRC2_HUMAN	baculoviral IAP repeat containing 2	186					cell surface receptor linked signaling pathway|cellular component disassembly involved in apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteasomal ubiquitin-dependent protein catabolic process|protein polyubiquitination	CD40 receptor complex|cytosol|internal side of plasma membrane	protein N-terminus binding|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(8;0.00044)|all_epithelial(12;0.00348)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0093)	Lung(13;0.109)|Epithelial(9;0.11)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0144)		TACTGAAGAAGCCAGATTTCT	0.413													4	108					0	0	1	0	0	A	102221141	G	A	102221141	3	1	196	1	0	0	0	0	1	0	0	0	1434	971	34	2	558	2	BIRC2	11	102221141	Missense_Mutation	SNP	G	TCGA-FG-7636-01A-11D-2086-08	30549335	102221141	32785375	37	24834											
IL18	3606	broad.mit.edu	37	11	112025712	112025712	+	Missense_Mutation	SNP	G	G	A	rs61734549	by1000genomes	TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr11:112025712G>A	ENST00000280357.7	-	2	284	c.65C>T	c.(64-66)aCg>aTg	p.T22M	IL18_ENST00000524595.1_Missense_Mutation_p.T22M|IL18_ENST00000533858.1_5'UTR|SDHD_ENST00000532699.1_Intron|IL18_ENST00000528832.1_Missense_Mutation_p.T22M	NM_001562.3	NP_001553.1	Q14116	IL18_HUMAN	interleukin 18 (interferon-gamma-inducing factor)	22					angiogenesis|cell-cell signaling|chemokine biosynthetic process|granulocyte macrophage colony-stimulating factor biosynthetic process|interferon-gamma biosynthetic process|interleukin-13 biosynthetic process|interleukin-2 biosynthetic process|positive regulation of activated T cell proliferation|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of interferon-gamma production|positive regulation of interleukin-17 production|positive regulation of natural killer cell proliferation|positive regulation of NK T cell proliferation|regulation of cell adhesion|sleep|T-helper 1 type immune response|type 2 immune response	cytosol|extracellular space	cytokine activity|signal transducer activity						all_cancers(61;5.7e-14)|all_epithelial(67;3.4e-08)|Melanoma(852;8.81e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;6.72e-07)|Epithelial(105;8.15e-07)|all cancers(92;1.43e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.055)		AAAGTAAAGCGTATTGTCAAT	0.343													9	30					0	0	1	0	0	A	112025712	G	A	112025712	3	1	196	1	0	0	0	0	1	0	0	0	7689	1145	40	1	536	1	IL18	11	112025712	Missense_Mutation	SNP	G	TCGA-FG-7636-01A-11D-2086-08	9804571	112025712	22980804	38	24835											
CAPZA3	93661	broad.mit.edu	37	12	18891209	18891209	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr12:18891209C>T	ENST00000317658.3	+	1	165	c.7C>T	c.(7-9)Ctt>Ttt	p.L3F		NM_033328.2	NP_201585.1	Q96KX2	CAZA3_HUMAN	capping protein (actin filament) muscle Z-line, alpha 3	3					actin cytoskeleton organization|actin filament capping	F-actin capping protein complex	actin binding	p.L3V(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)	19	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)	Hepatocellular(102;0.194)				AAACATGACACTTAGCGTGCT	0.438													5	85					0	0	1	0	0	T	18891209	C	T	18891209	3	4	196	1	0	0	0	0	1	0	0	0	2660	565	20	2	9	2	CAPZA3	12	18891209	Missense_Mutation	SNP	C	TCGA-FG-7636-01A-11D-2086-08		18891209	114960686	39	24836											
KIF21A	55605	broad.mit.edu	37	12	39763607	39763607	+	Missense_Mutation	SNP	A	A	G			TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr12:39763607A>G	ENST00000395670.3	-	3	793	c.374T>C	c.(373-375)aTt>aCt	p.I125T	KIF21A_ENST00000361961.3_Missense_Mutation_p.I125T|KIF21A_ENST00000544797.2_Missense_Mutation_p.I125T|KIF21A_ENST00000361418.5_Missense_Mutation_p.I125T|KIF21A_ENST00000541463.2_Missense_Mutation_p.I125T			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	125	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				TTTTTCTTCAATACTCTTAAA	0.338													6	23					0	0	1	0	0	G	39763607	A	G	39763607	3	3	196	1	0	0	0	0	1	0	0	0	8330	101	4	3	4794	3	KIF21A	12	39763607	Missense_Mutation	SNP	A	TCGA-FG-7636-01A-11D-2086-08	20872398	39763607	94088288	40	24837			1	20		2	2	22	A		4.20578e-05
KIF21A	55605	broad.mit.edu	37	12	39763628	39763628	+	Missense_Mutation	SNP	A	A	C			TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr12:39763628A>C	ENST00000395670.3	-	3	772	c.353T>G	c.(352-354)gTt>gGt	p.V118G	KIF21A_ENST00000361961.3_Missense_Mutation_p.V118G|KIF21A_ENST00000544797.2_Missense_Mutation_p.V118G|KIF21A_ENST00000361418.5_Missense_Mutation_p.V118G|KIF21A_ENST00000541463.2_Missense_Mutation_p.V118G			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	118	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				AAGGTGTTTAACAGCTCGAGA	0.348													10	38					0	0	1	0	0	C	39763628	A	C	39763628	3	2	196	1	0	0	0	0	1	0	0	0	8330	43	2	5	4815	5	KIF21A	12	39763628	Missense_Mutation	SNP	A	TCGA-FG-7636-01A-11D-2086-08	21	39763628	94088267	41	24838			1	20		2	2	22	A		4.20578e-05
DGKH	160851	broad.mit.edu	37	13	42783569	42783569	+	Frame_Shift_Del	DEL	A	A	-			TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr13:42783569delA	ENST00000261491.5	+	23	2839	c.2818delA	c.(2818-2820)aaafs	p.K940fs	DGKH_ENST00000337343.4_Frame_Shift_Del_p.K940fs|DGKH_ENST00000379274.2_Frame_Shift_Del_p.K804fs|DGKH_ENST00000540693.1_Frame_Shift_Del_p.K940fs|DGKH_ENST00000498255.2_3'UTR|DGKH_ENST00000536612.1_Frame_Shift_Del_p.K804fs|DGKH_ENST00000538674.1_Frame_Shift_Del_p.K695fs	NM_152910.4	NP_690874.2	Q86XP1	DGKH_HUMAN	diacylglycerol kinase, eta						activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation|protein oligomerization	endosome|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			breast(2)|endometrium(3)|kidney(5)|large_intestine(11)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43		Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109)		AATTGTGCACAAAAACAGAGC	0.378													40	50	---	---	---	---						-	42783569	A	-	42783569	7	5	196	1	0	1	0	1	0	0	0	0	4498	131	5	0	2908	0	DGKH	13	42783569	Frame_Shift_Del	DEL	A	TCGA-FG-7636-01A-11D-2086-08		42783569	72386309	42	24839											
SLITRK5	26050	broad.mit.edu	37	13	88329160	88329160	+	Missense_Mutation	SNP	A	A	G			TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr13:88329160A>G	ENST00000325089.6	+	2	1736	c.1517A>G	c.(1516-1518)aAc>aGc	p.N506S	SLITRK5_ENST00000400028.3_Missense_Mutation_p.N265S	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	506						integral to membrane		p.N506I(1)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					CCGGTCCCAAACCTCCAGCTG	0.532													31	56					0	0	1	0	0	G	88329160	A	G	88329160	3	3	196	1	0	0	0	0	1	0	0	0	14800	43	2	3	1519	3	SLITRK5	13	88329160	Missense_Mutation	SNP	A	TCGA-FG-7636-01A-11D-2086-08	45545591	88329160	26840718	43	24840											
ZIC5	85416	broad.mit.edu	37	13	100623411	100623413	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr13:100623411_100623413delAGG	ENST00000267294.4	-	1	750_752	c.517_519delCCT	c.(517-519)cctdel	p.P173del		NM_033132.3	NP_149123.2	Q96T25	ZIC5_HUMAN	Zic family member 5	173	Pro-rich.				cell differentiation	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(1)|lung(2)|prostate(1)|skin(2)	9	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CCGAGAGGGCaggaggaggagga	0.744													2	4	---	---	---	---						-	100623413	AGG	-	100623411	7	5	196	1	0	1	0	1	0	0	0	0	17740	175	7	0	1480	0	ZIC5	13	100623411	In_Frame_Del	DEL	AGG	TCGA-FG-7636-01A-11D-2086-08	12294251	100623411	14546467	44	24841											
BMP4	652	broad.mit.edu	37	14	54416985	54416985	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr14:54416985C>T	ENST00000245451.4	-	4	1385	c.992G>A	c.(991-993)gGc>gAc	p.G331D	BMP4_ENST00000558984.1_Missense_Mutation_p.G331D|BMP4_ENST00000559087.1_Missense_Mutation_p.G331D|BMP4_ENST00000417573.1_Missense_Mutation_p.G331D	NM_001202.3	NP_001193.2	P12644	BMP4_HUMAN	bone morphogenetic protein 4	331					activation of MAPKK activity|blood vessel endothelial cell proliferation involved in sprouting angiogenesis|BMP signaling pathway involved in heart induction|BMP signaling pathway involved in nephric duct formation|branching involved in ureteric bud morphogenesis|bronchus development|bud dilation involved in lung branching|cardiac septum development|cartilage development|endocardial cushion development|epithelial cell proliferation involved in lung morphogenesis|intermediate mesodermal cell differentiation|lung alveolus development|lymphoid progenitor cell differentiation|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesonephros development|negative regulation of branch elongation involved in ureteric bud branching by BMP signaling pathway|negative regulation of branching involved in ureteric bud morphogenesis|negative regulation of cell proliferation involved in heart morphogenesis|negative regulation of glomerular mesangial cell proliferation|negative regulation of glomerulus development|negative regulation of immature T cell proliferation in thymus|negative regulation of MAP kinase activity|negative regulation of metanephric comma-shaped body morphogenesis|negative regulation of metanephric S-shaped body morphogenesis|negative regulation of mitosis|negative regulation of myoblast differentiation|negative regulation of phosphorylation|negative regulation of striated muscle tissue development|negative regulation of thymocyte apoptosis|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cardiac muscle fiber development|positive regulation of cartilage development|positive regulation of collagen biosynthetic process|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of kidney development|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of smooth muscle cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|protein localization to nucleus|pulmonary artery endothelial tube morphogenesis|secondary heart field specification|SMAD protein signal transduction|specification of ureteric bud anterior/posterior symmetry by BMP signaling pathway|steroid hormone mediated signaling pathway	extracellular space|proteinaceous extracellular matrix	BMP receptor binding|chemoattractant activity|cytokine activity|growth factor activity			breast(1)|endometrium(3)|large_intestine(2)|lung(9)|prostate(3)|urinary_tract(1)	19						GGCCTGGTAGCCTGGTGGGGC	0.572													9	59					0	0	1	0	0	T	54416985	C	T	54416985	3	4	196	1	0	0	0	0	1	0	0	0	1461	739	26	2	238	2	BMP4	14	54416985	Missense_Mutation	SNP	C	TCGA-FG-7636-01A-11D-2086-08		54416985	52932555	45	24842											
CPSF2	53981	broad.mit.edu	37	14	92601779	92601779	+	Missense_Mutation	SNP	A	A	G			TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr14:92601779A>G	ENST00000298875.4	+	6	769	c.484A>G	c.(484-486)Ata>Gta	p.I162V		NM_017437.2	NP_059133.1	Q9P2I0	CPSF2_HUMAN	cleavage and polyadenylation specific factor 2, 100kDa	162					histone mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	hydrolase activity|protein binding|RNA binding			breast(2)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	24		all_cancers(154;0.0766)		COAD - Colon adenocarcinoma(157;0.222)		AATATGGAAAATAGTCAAAGA	0.388													3	109					0	0	1	0	0	G	92601779	A	G	92601779	3	3	196	1	0	0	0	0	1	0	0	0	3848	101	4	3	498	3	CPSF2	14	92601779	Missense_Mutation	SNP	A	TCGA-FG-7636-01A-11D-2086-08	38184794	92601779	14747761	46	24843											
CACNA1H	8912	broad.mit.edu	37	16	1251754	1251754	+	Missense_Mutation	SNP	A	A	G			TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr16:1251754A>G	ENST00000348261.5	+	9	1552	c.1304A>G	c.(1303-1305)gAg>gGg	p.E435G	CACNA1H_ENST00000565831.1_Missense_Mutation_p.E435G|CACNA1H_ENST00000358590.4_Missense_Mutation_p.E435G	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	435					aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	CTGATGCGGGAGCAGCGGGCA	0.612													8	14					0	0	1	0	0	G	1251754	A	G	1251754	3	3	196	1	0	0	0	0	1	0	0	0	2563	304	11	3	1334	3	CACNA1H	16	1251754	Missense_Mutation	SNP	A	TCGA-FG-7636-01A-11D-2086-08		1251754	89102999	47	24844											
HPR	3250	broad.mit.edu	37	16	72110614	72110614	+	Silent	SNP	A	A	G			TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr16:72110614A>G	ENST00000540303.2	+	5	713	c.681A>G	c.(679-681)ggA>ggG	p.G227G	HPR_ENST00000356967.5_Silent_p.G227G|HPR_ENST00000228226.8_Silent_p.G264G|HPR_ENST00000561690.1_Intron	NM_020995.3	NP_066275.3	P00739	HPTR_HUMAN	haptoglobin-related protein	227	Peptidase S1.				proteolysis	spherical high-density lipoprotein particle	hemoglobin binding|serine-type endopeptidase activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|stomach(1)|urinary_tract(2)	20		Ovarian(137;0.125)				CTGGCTGGGGACAAAGTGACA	0.463													7	133					0	0	1	0	0	G	72110614	A	G	72110614	2	3	196	1	0	0	0	0	0	0	0	1	7378	262	10	3		3	HPR	16	72110614	Silent	SNP	A	TCGA-FG-7636-01A-11D-2086-08	70858860	72110614	18244139	48	24845											
ZFHX3	463	broad.mit.edu	37	16	72994030	72994031	+	Frame_Shift_Ins	INS	-	-	TCACAGCC	rs12922701		TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr16:72994030_72994031insTCACAGCC	ENST00000268489.5	-	2	686_687	c.14_15insGGCTGTGA	c.(13-15)gacfs	p.D5fs	ZFHX3_ENST00000397992.5_Intron	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	5					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				CGACGGGCGAGTCACAGCCTTC	0.609													21	167	---	---	---	---						TCACAGCC	72994031	-	TCACAGCC	72994030	7	5	196	1	0	1	1	0	0	0	0	0	17692	1020	36	0	11132	0	ZFHX3	16	72994030	Frame_Shift_Ins	INS	-	TCGA-FG-7636-01A-11D-2086-08	883416	72994030	17360723	49	24846											
TP53	7157	broad.mit.edu	37	17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	rs121913343		TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr17:7577121G>A	ENST00000420246.2	-	8	949	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron|TP53_ENST00000269305.4_Missense_Mutation_p.R273C|TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000359597.4_Missense_Mutation_p.R273C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	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).		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.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			24	3					0	0	1	0	0	A	7577121	G	A	7577121	3	1	196	1	0	0	0	0	1	0	0	0	16442	1087	38	1	469	1	TP53	17	7577121	Missense_Mutation	SNP	G	TCGA-FG-7636-01A-11D-2086-08		7577121	73618089	50	24847											
MUC16	94025	broad.mit.edu	37	19	9057582	9057582	+	Missense_Mutation	SNP	G	G	C			TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr19:9057582G>C	ENST00000397910.4	-	3	30067	c.29864C>G	c.(29863-29865)aCc>aGc	p.T9955S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9957	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGTGGTGATGGTCATTTGTGT	0.498													47	254					0	0	1	0	0	C	9057582	G	C	9057582	3	2	196	1	0	0	0	0	1	0	0	0	10021	1261	44	5	13987	5	MUC16	19	9057582	Missense_Mutation	SNP	G	TCGA-FG-7636-01A-11D-2086-08		9057582	50071401	51	24848											
MUC16	94025	broad.mit.edu	37	19	9068570	9068570	+	Silent	SNP	T	T	A			TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr19:9068570T>A	ENST00000397910.4	-	3	19079	c.18876A>T	c.(18874-18876)acA>acT	p.T6292T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6294	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GCATTGTGTGTGTATCTGTGG	0.453													23	128					0	0	1	0	0	A	9068570	T	A	9068570	2	1	196	1	0	0	0	0	0	0	0	1	10021	1683	59	5		5	MUC16	19	9068570	Silent	SNP	T	TCGA-FG-7636-01A-11D-2086-08	10988	9068570	50060413	52	24849											
ANO8	57719	broad.mit.edu	37	19	17438523	17438523	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr19:17438523C>T	ENST00000159087.4	-	14	2551	c.2393G>A	c.(2392-2394)cGc>cAc	p.R798H		NM_020959.2	NP_066010.1	Q9HCE9	ANO8_HUMAN	anoctamin 8	798						chloride channel complex	chloride channel activity			autonomic_ganglia(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(3)	27						GCTTTCCACGCGCTGGCCGAA	0.682													21	36					0	0	1	0	0	T	17438523	C	T	17438523	3	4	196	1	0	0	0	0	1	0	0	0	697	768	27	1	1325	1	ANO8	19	17438523	Missense_Mutation	SNP	C	TCGA-FG-7636-01A-11D-2086-08	8369953	17438523	41690460	53	24850											
FFAR1	2864	broad.mit.edu	37	19	35842815	35842815	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr19:35842815T>C	ENST00000246553.2	+	1	371	c.361T>C	c.(361-363)Tgc>Cgc	p.C121R		NM_005303.2	NP_005294.1	O14842	FFAR1_HUMAN	free fatty acid receptor 1	121					energy reserve metabolic process|regulation of insulin secretion	integral to plasma membrane	G-protein coupled receptor activity|guanyl-nucleotide exchange factor activity|lipid binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;4.58e-20)|OV - Ovarian serous cystadenocarcinoma(14;6.67e-19)|all cancers(14;2.01e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)		Icosapent(DB00159)	CCGGAGGCCGTGCTATTCCTG	0.677													10	43					0	0	1	0	0	C	35842815	T	C	35842815	3	2	196	1	0	0	0	0	1	0	0	0	5860	1696	59	3	363	3	FFAR1	19	35842815	Missense_Mutation	SNP	T	TCGA-FG-7636-01A-11D-2086-08	18404292	35842815	23286168	54	24851											
GRIN2D	2906	broad.mit.edu	37	19	48945567	48945567	+	Missense_Mutation	SNP	C	C	A			TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr19:48945567C>A	ENST00000263269.3	+	12	2689	c.2601C>A	c.(2599-2601)caC>caA	p.H867Q		NM_000836.2	NP_000827.2	O15399	NMDE4_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2D	867						cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|protein binding			autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1)	37		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Orphenadrine(DB01173)	CCTGGGAGCACCTGGTGTACT	0.647													48	39					1.83081e-24	1.98338e-24	1	1	0	A	48945567	C	A	48945567	3	1	196	1	0	0	0	0	1	0	0	0	6823	506	18	5	2643	5	GRIN2D	19	48945567	Missense_Mutation	SNP	C	TCGA-FG-7636-01A-11D-2086-08	13102752	48945567	10183416	55	24852											
PTPRH	5794	broad.mit.edu	37	19	55693430	55693430	+	Missense_Mutation	SNP	A	A	T			TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr19:55693430A>T	ENST00000376350.3	-	19	3174	c.3152T>A	c.(3151-3153)tTt>tAt	p.F1051Y	PTPRH_ENST00000263434.5_Missense_Mutation_p.F873Y	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	1051	Tyrosine-protein phosphatase.				apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		CTTCCTTACAAAGCTGAAGGG	0.622													32	76					0	0	1	0	0	T	55693430	A	T	55693430	3	4	196	1	0	0	0	0	1	0	0	0	12855	14	1	5	203	5	PTPRH	19	55693430	Missense_Mutation	SNP	A	TCGA-FG-7636-01A-11D-2086-08	6747863	55693430	3435553	56	24853											
NLRP9	338321	broad.mit.edu	37	19	56244181	56244181	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr19:56244181G>A	ENST00000332836.2	-	2	1043	c.1016C>T	c.(1015-1017)aCg>aTg	p.T339M		NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	339	NACHT.					cytoplasm	ATP binding	p.T339M(2)		NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		CAACCAGCACGTAAAGGGATT	0.413													36	29					0	0	1	0	0	A	56244181	G	A	56244181	3	1	196	1	0	0	0	0	1	0	0	0	10531	1145	40	1	1991	1	NLRP9	19	56244181	Missense_Mutation	SNP	G	TCGA-FG-7636-01A-11D-2086-08	550751	56244181	2884802	57	24854											
NKAIN4	128414	broad.mit.edu	37	20	61881306	61881306	+	Missense_Mutation	SNP	C	C	A			TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr20:61881306C>A	ENST00000370316.3	-	2	262	c.173G>T	c.(172-174)cGg>cTg	p.R58L	NKAIN4_ENST00000370307.2_5'UTR|NKAIN4_ENST00000370313.1_5'UTR	NM_152864.3	NP_690603.3	Q8IVV8	NKAI4_HUMAN	Na+/K+ transporting ATPase interacting 4	58						integral to membrane|plasma membrane				endometrium(2)|lung(1)|ovary(1)	4	all_cancers(38;2.72e-09)					ATAGCGCAGCCGGTACTGGAT	0.607													3	54					1	1	1	1	0	A	61881306	C	A	61881306	3	1	196	1	0	0	0	0	1	0	0	0	10485	652	23	5	477	5	NKAIN4	20	61881306	Missense_Mutation	SNP	C	TCGA-FG-7636-01A-11D-2086-08		61881306	1144214	58	24855											
SRMS	6725	broad.mit.edu	37	20	62178604	62178604	+	Silent	SNP	A	A	G			TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr20:62178604A>G	ENST00000217188.1	-	1	253	c.213T>C	c.(211-213)agT>agC	p.S71S		NM_080823.2	NP_543013.1	Q9H3Y6	SRMS_HUMAN	src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites	71	SH3.						ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|stomach(1)	19	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)			CGCGGCGGACACTCAGCTCCC	0.697													7	7					0	0	1	0	0	G	62178604	A	G	62178604	2	3	196	1	0	0	0	0	0	0	0	1	15208	156	6	3		3	SRMS	20	62178604	Silent	SNP	A	TCGA-FG-7636-01A-11D-2086-08	297298	62178604	846916	59	24856											
TUBGCP6	85378	broad.mit.edu	37	22	50659212	50659212	+	Silent	SNP	A	A	G	rs141527317		TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr22:50659212A>G	ENST00000439308.2	-	16	4068	c.3576T>C	c.(3574-3576)tcT>tcC	p.S1192S	TUBGCP6_ENST00000248846.5_Silent_p.S1192S|TUBGCP6_ENST00000491449.1_5'UTR	NM_020461.3	NP_065194.2	Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	1192	9 X 27 AA tandem repeats.				G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		TGCTGGCATCAGACACGTGTC	0.617													4	93					0	0	1	0	0	G	50659212	A	G	50659212	2	3	196	1	0	0	0	0	0	0	0	1	16832	175	7	3		3	TUBGCP6	22	50659212	Silent	SNP	A	TCGA-FG-7636-01A-11D-2086-08		50659212	645354	60	24857											
FAM47C	442444	broad.mit.edu	37	X	37028134	37028134	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chrX:37028134C>T	ENST00000358047.3	+	1	1703	c.1651C>T	c.(1651-1653)Cct>Tct	p.P551S		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	551										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						CCCAGAGCCTCCTGAGACTGG	0.617													3	63					0	0	1	0	0	T	37028134	C	T	37028134	3	4	196	1	0	0	0	0	1	0	0	0	5607	855	30	2	1653	2	FAM47C	23	37028134	Missense_Mutation	SNP	C	TCGA-FG-7636-01A-11D-2086-08		37028134	118242426	61	24858											
ATRX	546	broad.mit.edu	37	X	76855040	76855046	+	Frame_Shift_Del	DEL	TTTCTTC	TTTCTTC	-			TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chrX:76855040_76855046delTTTCTTC	ENST00000373344.5	-	25	6004_6010	c.5790_5796delGAAGAAA	c.(5788-5796)aagaagaaafs	p.KKK1930fs	ATRX_ENST00000395603.3_Frame_Shift_Del_p.KKK1892fs|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1930	Poly-Lys.				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)	TTTTCCCTTTTTTCTTCTTTCTaaaaa	0.353			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						63	73	---	---	---	---						-	76855046	TTTCTTC	-	76855040	7	5	196	1	0	1	0	1	0	0	0	0	1206	1838	64	0	1726	0	ATRX	23	76855040	Frame_Shift_Del	DEL	TTTCTTC	TCGA-FG-7636-01A-11D-2086-08	39826906	76855040	78415520	62	24859											
ARID1A	8289	broad.mit.edu	37	1	27100381	27100381	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FG-7637-01A-11D-2086-08	TCGA-FG-7637-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea26718-ba34-444f-9122-0faf73b62ea1	c2346512-f289-4ac1-a8c9-460c4f3f0126	g.chr1:27100381C>T	ENST00000324856.7	+	17	4464	c.4093C>T	c.(4093-4095)Caa>Taa	p.Q1365*	ARID1A_ENST00000457599.2_Nonsense_Mutation_p.Q1365*|ARID1A_ENST00000540690.1_5'UTR|ARID1A_ENST00000374152.2_Nonsense_Mutation_p.Q982*	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1365	Gln-rich.				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GTATCAACAGCAACAGCAGGT	0.498			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"								52	99					0	0	1	0	0	T	27100381	C	T	27100381	4	4	197	1	0	0	0	0	0	1	0	0	910	711	25	2	4159	2	ARID1A	1	27100381	Nonsense_Mutation	SNP	C	TCGA-FG-7637-01A-11D-2086-08		27100381	222150240	1	24860											
ARID1A	8289	broad.mit.edu	37	1	27106229	27106230	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-FG-7637-01A-11D-2086-08	TCGA-FG-7637-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea26718-ba34-444f-9122-0faf73b62ea1	c2346512-f289-4ac1-a8c9-460c4f3f0126	g.chr1:27106229_27106230delAG	ENST00000324856.7	+	20	6211_6212	c.5840_5841delAG	c.(5839-5841)cagfs	p.Q1947fs	ARID1A_ENST00000457599.2_Frame_Shift_Del_p.Q1730fs|ARID1A_ENST00000374152.2_Frame_Shift_Del_p.Q1564fs|ARID1A_ENST00000540690.1_Frame_Shift_Del_p.Q275fs	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1947					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	p.H1949fs*16(1)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		AGCCCAGCACAGAGCCACCGGA	0.53			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"								22	137	---	---	---	---						-	27106230	AG	-	27106229	7	5	197	1	0	1	0	1	0	0	0	0	910	188	7	0	5918	0	ARID1A	1	27106229	Frame_Shift_Del	DEL	AG	TCGA-FG-7637-01A-11D-2086-08	5848	27106229	222144392	2	24861											
SYT2	127833	broad.mit.edu	37	1	202568369	202568369	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-7637-01A-11D-2086-08	TCGA-FG-7637-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea26718-ba34-444f-9122-0faf73b62ea1	c2346512-f289-4ac1-a8c9-460c4f3f0126	g.chr1:202568369C>T	ENST00000367267.1	-	8	1222	c.1030G>A	c.(1030-1032)Gag>Aag	p.E344K	SYT2_ENST00000367268.4_Missense_Mutation_p.E344K	NM_001136504.1	NP_001129976.1	Q8N9I0	SYT2_HUMAN	synaptotagmin II	344	C2 2.|Phospholipid binding (By similarity).				neurotransmitter secretion	cell junction|chromaffin granule membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	protein binding|transporter activity	p.E344Q(1)		NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|ovary(2)|skin(2)|urinary_tract(1)	29			BRCA - Breast invasive adenocarcinoma(75;0.169)		Botulinum Toxin Type B(DB00042)	AAGGGGATCTCAAAGCTGAAG	0.522													5	189					0	0	1	0	0	T	202568369	C	T	202568369	3	4	197	1	0	0	0	0	1	0	0	0	15531	835	29	2	237	2	SYT2	1	202568369	Missense_Mutation	SNP	C	TCGA-FG-7637-01A-11D-2086-08	175462140	202568369	46682252	3	24862											
HEATR1	55127	broad.mit.edu	37	1	236738051	236738051	+	Silent	SNP	C	C	T	rs142628625	byFrequency	TCGA-FG-7637-01A-11D-2086-08	TCGA-FG-7637-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea26718-ba34-444f-9122-0faf73b62ea1	c2346512-f289-4ac1-a8c9-460c4f3f0126	g.chr1:236738051C>T	ENST00000366582.3	-	23	3351	c.3237G>A	c.(3235-3237)ccG>ccA	p.P1079P	HEATR1_ENST00000366581.2_Intron	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	1079					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			CTAGACTCTTCGGATCCTCAT	0.423													27	41					0	0	1	0	0	T	236738051	C	T	236738051	2	4	197	1	0	0	0	0	0	0	0	1	7068	871	31	1		1	HEATR1	1	236738051	Silent	SNP	C	TCGA-FG-7637-01A-11D-2086-08	34169682	236738051	12512570	4	24863											
KIF26B	55083	broad.mit.edu	37	1	245530297	245530297	+	Silent	SNP	C	C	T			TCGA-FG-7637-01A-11D-2086-08	TCGA-FG-7637-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea26718-ba34-444f-9122-0faf73b62ea1	c2346512-f289-4ac1-a8c9-460c4f3f0126	g.chr1:245530297C>T	ENST00000407071.2	+	3	1067	c.627C>T	c.(625-627)gcC>gcT	p.A209A	KIF26B_ENST00000479506.1_3'UTR	NM_018012.3	NP_060482.2	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	209					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			AGCAGGCAGCCGGCAGTGAGC	0.657													4	35					0	0	1	0	0	T	245530297	C	T	245530297	2	4	197	1	0	0	0	0	0	0	0	1	8337	639	23	1		1	KIF26B	1	245530297	Silent	SNP	C	TCGA-FG-7637-01A-11D-2086-08	8792246	245530297	3720324	5	24864											
OR2G6	391211	broad.mit.edu	37	1	248685220	248685220	+	Silent	SNP	C	C	T			TCGA-FG-7637-01A-11D-2086-08	TCGA-FG-7637-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea26718-ba34-444f-9122-0faf73b62ea1	c2346512-f289-4ac1-a8c9-460c4f3f0126	g.chr1:248685220C>T	ENST00000343414.4	+	1	305	c.273C>T	c.(271-273)acC>acT	p.T91T		NM_001013355.1	NP_001013373.1	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G, member 6	91					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T91T(1)		NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			AAGACAAAACCATGAGCTACG	0.517													55	86					0	0	1	0	0	T	248685220	C	T	248685220	2	4	197	1	0	0	0	0	0	0	0	1	11048	581	21	2		2	OR2G6	1	248685220	Silent	SNP	C	TCGA-FG-7637-01A-11D-2086-08	3154923	248685220	565401	6	24865											
TMEM87B	84910	broad.mit.edu	37	2	112813196	112813196	+	Missense_Mutation	SNP	G	G	T			TCGA-FG-7637-01A-11D-2086-08	TCGA-FG-7637-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea26718-ba34-444f-9122-0faf73b62ea1	c2346512-f289-4ac1-a8c9-460c4f3f0126	g.chr2:112813196G>T	ENST00000283206.4	+	1	397	c.28G>T	c.(28-30)Ggg>Tgg	p.G10W		NM_032824.2	NP_116213.1	Q96K49	TM87B_HUMAN	transmembrane protein 87B	10						integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)	19						CTCGGTAGCCGGGCTCCTGCC	0.761													2	6					1	1	1	1	0	T	112813196	G	T	112813196	3	4	197	1	0	0	0	0	1	0	0	0	16271	1116	39	5	30	5	TMEM87B	2	112813196	Missense_Mutation	SNP	G	TCGA-FG-7637-01A-11D-2086-08		112813196	130386177	7	24866											
ACVR1C	130399	broad.mit.edu	37	2	158401021	158401021	+	Silent	SNP	G	G	A			TCGA-FG-7637-01A-11D-2086-08	TCGA-FG-7637-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea26718-ba34-444f-9122-0faf73b62ea1	c2346512-f289-4ac1-a8c9-460c4f3f0126	g.chr2:158401021G>A	ENST00000243349.8	-	5	1239	c.879C>T	c.(877-879)atC>atT	p.I293I	ACVR1C_ENST00000335450.7_Silent_p.I213I|ACVR1C_ENST00000409680.3_Silent_p.I243I|ACVR1C_ENST00000348328.5_Silent_p.I136I	NM_001111032.1|NM_145259.2	NP_001104502.1|NP_660302.2	Q8NER5	ACV1C_HUMAN	activin A receptor, type IC		Protein kinase.				apoptosis|cell differentiation|regulation of apoptosis	activin receptor complex	activin receptor activity, type I|ATP binding|transforming growth factor beta receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	42						GCGCCAGCTTGATCATTCCAG	0.398													4	117					0	0	1	0	0	A	158401021	G	A	158401021	2	1	197	1	0	0	0	0	0	0	0	1	221	1280	45	2		2	ACVR1C	2	158401021	Silent	SNP	G	TCGA-FG-7637-01A-11D-2086-08	45587825	158401021	84798352	8	24867											
TTC30A	92104	broad.mit.edu	37	2	178482180	178482180	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-7637-01A-11D-2086-08	TCGA-FG-7637-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea26718-ba34-444f-9122-0faf73b62ea1	c2346512-f289-4ac1-a8c9-460c4f3f0126	g.chr2:178482180T>C	ENST00000355689.5	-	1	1514	c.1250A>G	c.(1249-1251)gAt>gGt	p.D417G	AC073834.3_ENST00000357045.4_RNA	NM_152275.3	NP_689488.3	Q86WT1	TT30A_HUMAN	tetratricopeptide repeat domain 30A						cell projection organization	cilium	binding			autonomic_ganglia(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(117;0.000423)|Epithelial(96;0.00373)|all cancers(119;0.0169)			CATGGTTTCATCATATTCATT	0.423													8	240					0	0	1	0	0	C	178482180	T	C	178482180	3	2	197	1	0	0	0	0	1	0	0	0	16760	1435	50	3	751	3	TTC30A	2	178482180	Missense_Mutation	SNP	T	TCGA-FG-7637-01A-11D-2086-08	20081159	178482180	64717193	9	24868											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-FG-7637-01A-11D-2086-08	TCGA-FG-7637-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea26718-ba34-444f-9122-0faf73b62ea1	c2346512-f289-4ac1-a8c9-460c4f3f0126	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								38	43					0	0	1	0	0	T	209113112	C	T	209113112	3	4	197	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-FG-7637-01A-11D-2086-08	30630932	209113112	34086261	10	24869											
CCR9	10803	broad.mit.edu	37	3	45942529	45942529	+	Silent	SNP	C	C	T			TCGA-FG-7637-01A-11D-2086-08	TCGA-FG-7637-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea26718-ba34-444f-9122-0faf73b62ea1	c2346512-f289-4ac1-a8c9-460c4f3f0126	g.chr3:45942529C>T	ENST00000357632.2	+	3	429	c.249C>T	c.(247-249)acC>acT	p.T83T	LZTFL1_ENST00000539217.1_Intron|CCR9_ENST00000355983.2_Silent_p.T71T|CCR9_ENST00000395963.2_Silent_p.T71T|CCR9_ENST00000422395.1_3'UTR|LZTFL1_ENST00000536047.1_Intron	NM_001256369.1|NM_031200.2	NP_001243298.1|NP_112477.1	P51686	CCR9_HUMAN	chemokine (C-C motif) receptor 9	83					cellular defense response|chemotaxis|elevation of cytosolic calcium ion concentration|immune response	integral to plasma membrane				breast(1)|endometrium(4)|large_intestine(8)|lung(2)|ovary(2)|prostate(2)|skin(1)	20				BRCA - Breast invasive adenocarcinoma(193;0.00118)|KIRC - Kidney renal clear cell carcinoma(197;0.0182)|Kidney(197;0.0214)		AGACCATGACCGACATGTTCC	0.507													12	278					0	0	1	0	0	T	45942529	C	T	45942529	2	4	197	1	0	0	0	0	0	0	0	1	2970	639	23	1		1	CCR9	3	45942529	Silent	SNP	C	TCGA-FG-7637-01A-11D-2086-08		45942529	152079901	11	24870											
PTPN23	25930	broad.mit.edu	37	3	47447437	47447437	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FG-7637-01A-11D-2086-08	TCGA-FG-7637-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea26718-ba34-444f-9122-0faf73b62ea1	c2346512-f289-4ac1-a8c9-460c4f3f0126	g.chr3:47447437C>A	ENST00000265562.4	+	6	524	c.447C>A	c.(445-447)tgC>tgA	p.C149*	PTPN23_ENST00000431726.1_Nonsense_Mutation_p.C23*	NM_015466.2	NP_056281.1	Q9H3S7	PTN23_HUMAN	protein tyrosine phosphatase, non-receptor type 23	149	BRO1.				cilium morphogenesis	cilium|cytoplasmic membrane-bounded vesicle|microtubule basal body	protein tyrosine phosphatase activity			breast(3)|central_nervous_system(1)|large_intestine(5)|lung(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		ATTTCCAGTGCGCAGCCGGCG	0.597													4	42					0.014758	0.0150532	1	1	0	A	47447437	C	A	47447437	4	1	197	1	0	0	0	0	0	1	0	0	12840	776	27	5	469	5	PTPN23	3	47447437	Nonsense_Mutation	SNP	C	TCGA-FG-7637-01A-11D-2086-08	1504908	47447437	150574993	12	24871											
PIGZ	80235	broad.mit.edu	37	3	196675277	196675277	+	Missense_Mutation	SNP	C	C	A			TCGA-FG-7637-01A-11D-2086-08	TCGA-FG-7637-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea26718-ba34-444f-9122-0faf73b62ea1	c2346512-f289-4ac1-a8c9-460c4f3f0126	g.chr3:196675277C>A	ENST00000412723.1	-	3	637	c.491G>T	c.(490-492)gGt>gTt	p.G164V	PIGZ_ENST00000443835.1_Intron	NM_025163.2	NP_079439.2	Q86VD9	PIGZ_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class Z	164					GPI anchor biosynthetic process	integral to membrane|intrinsic to endoplasmic reticulum membrane	alpha-1,2-mannosyltransferase activity			breast(1)|endometrium(1)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1)	14	all_cancers(143;1.05e-08)|Ovarian(172;0.0634)|Breast(254;0.0838)		Epithelial(36;4.29e-24)|all cancers(36;2.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00603)		GACGTAGGAACCAGACAGCAG	0.617													8	27					0.000673444	0.000715534	1	1	0	A	196675277	C	A	196675277	3	1	197	1	0	0	0	0	1	0	0	0	11953	507	18	5	1252	5	PIGZ	3	196675277	Missense_Mutation	SNP	C	TCGA-FG-7637-01A-11D-2086-08	149227840	196675277	1347153	13	24872											
FRAS1	80144	broad.mit.edu	37	4	79204003	79204003	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FG-7637-01A-11D-2086-08	TCGA-FG-7637-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea26718-ba34-444f-9122-0faf73b62ea1	c2346512-f289-4ac1-a8c9-460c4f3f0126	g.chr4:79204003C>A	ENST00000264895.6	+	12	1577	c.1137C>A	c.(1135-1137)tgC>tgA	p.C379*	FRAS1_ENST00000325942.6_Nonsense_Mutation_p.C379*|FRAS1_ENST00000264899.6_Nonsense_Mutation_p.C379*	NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	379	VWFC 6.				cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						ATGGCCCTTGCAAGGTGTGTG	0.532													7	117					0.00307968	0.00320538	1	1	0	A	79204003	C	A	79204003	4	1	197	1	0	0	0	0	0	1	0	0	6076	718	25	5	1183	5	FRAS1	4	79204003	Nonsense_Mutation	SNP	C	TCGA-FG-7637-01A-11D-2086-08		79204003	111950273	14	24873											
NPNT	255743	broad.mit.edu	37	4	106890076	106890076	+	Missense_Mutation	SNP	C	C	A	rs139540458		TCGA-FG-7637-01A-11D-2086-08	TCGA-FG-7637-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea26718-ba34-444f-9122-0faf73b62ea1	c2346512-f289-4ac1-a8c9-460c4f3f0126	g.chr4:106890076C>A	ENST00000379987.2	+	12	1843	c.1627C>A	c.(1627-1629)Cgt>Agt	p.R543S	NPNT_ENST00000427316.2_Missense_Mutation_p.R573S|NPNT_ENST00000506666.1_Missense_Mutation_p.R544S|NPNT_ENST00000514622.1_Missense_Mutation_p.R514S|NPNT_ENST00000453617.2_Missense_Mutation_p.R560S|NPNT_ENST00000305572.8_Intron	NM_001033047.2	NP_001028219.1	Q6UXI9	NPNT_HUMAN	nephronectin	543	MAM.				cell differentiation	membrane	calcium ion binding			kidney(5)|large_intestine(2)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	21		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.41e-07)		TGAAAAAAGGCGTGGTCACAC	0.448													14	16					2.31682e-05	2.56865e-05	1	1	0	A	106890076	C	A	106890076	3	1	197	1	0	0	0	0	1	0	0	0	10638	768	27	5	1822	5	NPNT	4	106890076	Missense_Mutation	SNP	C	TCGA-FG-7637-01A-11D-2086-08	27686073	106890076	84264200	15	24874											
PPP2CA	5515	broad.mit.edu	37	5	133534841	133534841	+	Missense_Mutation	SNP	A	A	T			TCGA-FG-7637-01A-11D-2086-08	TCGA-FG-7637-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea26718-ba34-444f-9122-0faf73b62ea1	c2346512-f289-4ac1-a8c9-460c4f3f0126	g.chr5:133534841A>T	ENST00000481195.1	-	6	1073	c.793T>A	c.(793-795)Tat>Aat	p.Y265N	CTD-2410N18.5_ENST00000519718.1_Intron	NM_002715.2	NP_002706.1			protein phosphatase 2, catalytic subunit, alpha isozyme											endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|skin(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CGATAACAATAGTTTGGAGCA	0.373													11	93					0	0	1	0	0	T	133534841	A	T	133534841	3	4	197	1	0	0	0	0	1	0	0	0	12429	420	15	5	144	5	PPP2CA	5	133534841	Missense_Mutation	SNP	A	TCGA-FG-7637-01A-11D-2086-08		133534841	47380419	16	24875											
KIF20A	10112	broad.mit.edu	37	5	137521298	137521298	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-7637-01A-11D-2086-08	TCGA-FG-7637-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea26718-ba34-444f-9122-0faf73b62ea1	c2346512-f289-4ac1-a8c9-460c4f3f0126	g.chr5:137521298G>A	ENST00000394894.3	+	16	2250	c.2024G>A	c.(2023-2025)cGg>cAg	p.R675Q	KIF20A_ENST00000508792.1_Missense_Mutation_p.R657Q	NM_005733.2	NP_005724.1	O95235	KI20A_HUMAN	kinesin family member 20A	675					cytokinesis|M phase of mitotic cell cycle|microtubule-based movement|protein transport|vesicle-mediated transport	Golgi apparatus|microtubule|nucleoplasm	ATP binding|microtubule motor activity|protein binding|transporter activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|liver(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(1)	27			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			TTGGCCCTACGGCGGTCACAA	0.507													45	115					0	0	1	0	0	A	137521298	G	A	137521298	3	1	197	1	0	0	0	0	1	0	0	0	8328	1116	39	1	2082	1	KIF20A	5	137521298	Missense_Mutation	SNP	G	TCGA-FG-7637-01A-11D-2086-08	3986457	137521298	43393962	17	24876											
DST	667	broad.mit.edu	37	6	56483940	56483940	+	Missense_Mutation	SNP	T	T	G			TCGA-FG-7637-01A-11D-2086-08	TCGA-FG-7637-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea26718-ba34-444f-9122-0faf73b62ea1	c2346512-f289-4ac1-a8c9-460c4f3f0126	g.chr6:56483940T>G	ENST00000370765.6	-	23	4999	c.4892A>C	c.(4891-4893)cAc>cCc	p.H1631P	DST_ENST00000421834.2_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000446842.2_Intron|DST_ENST00000361203.3_Intron|DST_ENST00000370769.4_Intron|DST_ENST00000312431.6_Intron|DST_ENST00000370754.5_Intron	NM_001723.5	NP_001714.1	Q03001	DYST_HUMAN	dystonin	5303					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TTTATGCAAGTGTTCATTTGT	0.348													21	134					0	0	1	0	0	G	56483940	T	G	56483940	3	3	197	1	0	0	0	0	1	0	0	0	4809	1696	59	5	15511	5	DST	6	56483940	Missense_Mutation	SNP	T	TCGA-FG-7637-01A-11D-2086-08		56483940	114631127	18	24877											
RFX6	222546	broad.mit.edu	37	6	117246787	117246787	+	Missense_Mutation	SNP	T	T	A			TCGA-FG-7637-01A-11D-2086-08	TCGA-FG-7637-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea26718-ba34-444f-9122-0faf73b62ea1	c2346512-f289-4ac1-a8c9-460c4f3f0126	g.chr6:117246787T>A	ENST00000332958.2	+	16	1866	c.1850T>A	c.(1849-1851)tTc>tAc	p.F617Y		NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	617					glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						CTGCACCAGTTCCCTGCTGGG	0.532													6	58					0	0	1	0	0	A	117246787	T	A	117246787	3	1	197	1	0	0	0	0	1	0	0	0	13319	1783	62	5	1912	5	RFX6	6	117246787	Missense_Mutation	SNP	T	TCGA-FG-7637-01A-11D-2086-08	60762847	117246787	53868280	19	24878											
NPC1L1	29881	broad.mit.edu	37	7	44579720	44579720	+	Silent	SNP	G	G	A			TCGA-FG-7637-01A-11D-2086-08	TCGA-FG-7637-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea26718-ba34-444f-9122-0faf73b62ea1	c2346512-f289-4ac1-a8c9-460c4f3f0126	g.chr7:44579720G>A	ENST00000289547.4	-	2	331	c.276C>T	c.(274-276)tcC>tcT	p.S92S	NPC1L1_ENST00000546276.1_Silent_p.S92S|NPC1L1_ENST00000423141.1_Silent_p.S92S|NPC1L1_ENST00000381160.3_Silent_p.S92S	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	92					cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding	p.S92S(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	GCTGCTTGGCGGAGCAGCAGG	0.602													3	51					0	0	1	0	0	A	44579720	G	A	44579720	2	1	197	1	0	0	0	0	0	0	0	1	10618	1103	39	1		1	NPC1L1	7	44579720	Silent	SNP	G	TCGA-FG-7637-01A-11D-2086-08		44579720	114558943	20	24879											
PKD1L1	168507	broad.mit.edu	37	7	47882609	47882609	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-7637-01A-11D-2086-08	TCGA-FG-7637-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea26718-ba34-444f-9122-0faf73b62ea1	c2346512-f289-4ac1-a8c9-460c4f3f0126	g.chr7:47882609G>A	ENST00000289672.2	-	34	5446	c.5396C>T	c.(5395-5397)gCg>gTg	p.A1799V		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	1799	PLAT.				cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						AATGACGACCGCATATAGCTG	0.483													3	68					0	0	1	0	0	A	47882609	G	A	47882609	3	1	197	1	0	0	0	0	1	0	0	0	12012	1087	38	1	3249	1	PKD1L1	7	47882609	Missense_Mutation	SNP	G	TCGA-FG-7637-01A-11D-2086-08	3302889	47882609	111256054	21	24880											
SRPK2	6733	broad.mit.edu	37	7	104783594	104783594	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-7637-01A-11D-2086-08	TCGA-FG-7637-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea26718-ba34-444f-9122-0faf73b62ea1	c2346512-f289-4ac1-a8c9-460c4f3f0126	g.chr7:104783594C>T	ENST00000357311.3	-	9	1135	c.964G>A	c.(964-966)Gag>Aag	p.E322K	SRPK2_ENST00000489828.1_Missense_Mutation_p.E322K|SRPK2_ENST00000393651.3_Missense_Mutation_p.E333K	NM_001278273.1|NM_182691.1	NP_001265202.1|NP_872633.1	P78362	SRPK2_HUMAN	SRSF protein kinase 2	322	Protein kinase.				angiogenesis|cell differentiation|intracellular protein kinase cascade|negative regulation of viral genome replication|nuclear speck organization|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of gene expression|positive regulation of neuron apoptosis|positive regulation of viral genome replication|spliceosome assembly	cytoplasm|nucleolus	14-3-3 protein binding|ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(11)|large_intestine(6)|lung(4)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	35						AGTTTCACCTCTGGGCAGTAT	0.498													14	83					0	0	1	0	0	T	104783594	C	T	104783594	3	4	197	1	0	0	0	0	1	0	0	0	15216	922	32	2	1130	2	SRPK2	7	104783594	Missense_Mutation	SNP	C	TCGA-FG-7637-01A-11D-2086-08	56900985	104783594	54355069	22	24881											
RAB11FIP1	80223	broad.mit.edu	37	8	37730001	37730001	+	Silent	SNP	G	G	A			TCGA-FG-7637-01A-11D-2086-08	TCGA-FG-7637-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea26718-ba34-444f-9122-0faf73b62ea1	c2346512-f289-4ac1-a8c9-460c4f3f0126	g.chr8:37730001G>A	ENST00000330843.4	-	4	2331	c.2319C>T	c.(2317-2319)ccC>ccT	p.P773P	RAB11FIP1_ENST00000524118.1_Intron|RAB11FIP1_ENST00000287263.4_Intron|RAB11FIP1_ENST00000523182.1_5'UTR|RAB11FIP1_ENST00000522727.1_Intron	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 (class I)	773					protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding			NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			TGGGAAGAGGGGGCGCCACTT	0.557													27	61					0	0	1	0	0	A	37730001	G	A	37730001	2	1	197	1	0	0	0	0	0	0	0	1	12945	1219	43	2		2	RAB11FIP1	8	37730001	Silent	SNP	G	TCGA-FG-7637-01A-11D-2086-08		37730001	108634021	23	24882											
TEK	7010	broad.mit.edu	37	9	27172734	27172734	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-7637-01A-11D-2086-08	TCGA-FG-7637-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea26718-ba34-444f-9122-0faf73b62ea1	c2346512-f289-4ac1-a8c9-460c4f3f0126	g.chr9:27172734C>T	ENST00000380036.4	+	5	1191	c.749C>T	c.(748-750)aCg>aTg	p.T250M	TEK_ENST00000519097.1_Missense_Mutation_p.T146M|TEK_ENST00000406359.4_Missense_Mutation_p.T250M	NM_000459.3	NP_000450	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial	250	EGF-like 1.				angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)		ATGGGAAGGACGTGTGAGAAG	0.433													3	51					0	0	1	0	0	T	27172734	C	T	27172734	3	4	197	1	0	0	0	0	1	0	0	0	15810	536	19	1	767	1	TEK	9	27172734	Missense_Mutation	SNP	C	TCGA-FG-7637-01A-11D-2086-08		27172734	114040697	24	24883											
ANKRD26	22852	broad.mit.edu	37	10	27381396	27381396	+	Missense_Mutation	SNP	G	G	C			TCGA-FG-7637-01A-11D-2086-08	TCGA-FG-7637-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea26718-ba34-444f-9122-0faf73b62ea1	c2346512-f289-4ac1-a8c9-460c4f3f0126	g.chr10:27381396G>C	ENST00000376087.4	-	4	742	c.577C>G	c.(577-579)Caa>Gaa	p.Q193E	ANKRD26_ENST00000436985.2_Missense_Mutation_p.Q193E	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	193						centrosome				breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						TCCACCATTTGCTGCTTTTTT	0.323													6	23					0	0	1	0	0	C	27381396	G	C	27381396	3	2	197	1	0	0	0	0	1	0	0	0	650	1328	46	5	4679	5	ANKRD26	10	27381396	Missense_Mutation	SNP	G	TCGA-FG-7637-01A-11D-2086-08		27381396	108153351	25	24884											
TLL2	7093	broad.mit.edu	37	10	98144479	98144479	+	Missense_Mutation	SNP	C	C	T	rs141438733		TCGA-FG-7637-01A-11D-2086-08	TCGA-FG-7637-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea26718-ba34-444f-9122-0faf73b62ea1	c2346512-f289-4ac1-a8c9-460c4f3f0126	g.chr10:98144479C>T	ENST00000357947.3	-	16	2284	c.2059G>A	c.(2059-2061)Gac>Aac	p.D687N		NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN	tolloid-like 2	687	CUB 3.				cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		AGCTTGGCGTCGGGGGACAGG	0.622													59	100					0	0	1	0	0	T	98144479	C	T	98144479	3	4	197	1	0	0	0	0	1	0	0	0	16006	884	31	1	1012	1	TLL2	10	98144479	Missense_Mutation	SNP	C	TCGA-FG-7637-01A-11D-2086-08	70763083	98144479	37390268	26	24885											
MGEA5	10724	broad.mit.edu	37	10	103577687	103577687	+	Silent	SNP	C	C	A			TCGA-FG-7637-01A-11D-2086-08	TCGA-FG-7637-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea26718-ba34-444f-9122-0faf73b62ea1	c2346512-f289-4ac1-a8c9-460c4f3f0126	g.chr10:103577687C>A	ENST00000361464.3	-	1	488	c.93G>T	c.(91-93)ccG>ccT	p.P31P	MGEA5_ENST00000439817.1_Silent_p.P31P|MGEA5_ENST00000370094.3_Silent_p.P31P|MGEA5_ENST00000419011.2_Silent_p.P31P|MGEA5_ENST00000357797.5_Silent_p.P31P	NM_012215.3	NP_036347.1	O60502	NCOAT_HUMAN	meningioma expressed antigen 5 (hyaluronidase)	31					glycoprotein catabolic process	cytoplasm|nucleus	histone acetyltransferase activity|hyalurononglucosaminidase activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	23		Colorectal(252;0.207)		Epithelial(162;4.67e-09)|all cancers(201;2.54e-07)		GAGCTGCCGGCGGCTCCAGCG	0.726													8	7					0.000157383	0.000170778	1	1	0	A	103577687	C	A	103577687	2	1	197	1	0	0	0	0	0	0	0	1	9604	755	27	5		5	MGEA5	10	103577687	Silent	SNP	C	TCGA-FG-7637-01A-11D-2086-08	5433208	103577687	31957060	27	24886											
CUEDC2	79004	broad.mit.edu	37	10	104184887	104184887	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-7637-01A-11D-2086-08	TCGA-FG-7637-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea26718-ba34-444f-9122-0faf73b62ea1	c2346512-f289-4ac1-a8c9-460c4f3f0126	g.chr10:104184887G>A	ENST00000369937.4	-	2	204	c.59C>T	c.(58-60)cCg>cTg	p.P20L		NM_024040.2	NP_076945.2	Q9H467	CUED2_HUMAN	CUE domain containing 2	20						cytoplasm|nucleus	protein binding			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(1)|stomach(1)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.122)		Epithelial(162;9.17e-09)|all cancers(201;2.16e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		GTCGGCCTCCGGGAGGTGTGT	0.602													6	74					0	0	1	0	0	A	104184887	G	A	104184887	3	1	197	1	0	0	0	0	1	0	0	0	4076	1116	39	1	836	1	CUEDC2	10	104184887	Missense_Mutation	SNP	G	TCGA-FG-7637-01A-11D-2086-08	607200	104184887	31349860	28	24887											
MUC2	4583	broad.mit.edu	37	11	1087506	1087506	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-7637-01A-11D-2086-08	TCGA-FG-7637-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea26718-ba34-444f-9122-0faf73b62ea1	c2346512-f289-4ac1-a8c9-460c4f3f0126	g.chr11:1087506G>A	ENST00000441003.2	+	24	3284	c.3257G>A	c.(3256-3258)gGg>gAg	p.G1086E	MUC2_ENST00000359061.5_Missense_Mutation_p.G1086E	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	1086						inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	GACACGGGTGGGGACTGTGAG	0.652													15	26					0	0	1	0	0	A	1087506	G	A	1087506	3	1	197	1	0	0	0	0	1	0	0	0	10023	1232	43	2	3351	2	MUC2	11	1087506	Missense_Mutation	SNP	G	TCGA-FG-7637-01A-11D-2086-08		1087506	133919010	29	24888											
OR5D18	219438	broad.mit.edu	37	11	55587473	55587473	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-7637-01A-11D-2086-08	TCGA-FG-7637-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea26718-ba34-444f-9122-0faf73b62ea1	c2346512-f289-4ac1-a8c9-460c4f3f0126	g.chr11:55587473G>A	ENST00000333976.4	+	1	388	c.368G>A	c.(367-369)cGc>cAc	p.R123H		NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D, member 18	123					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				GCCTATGACCGCTTCGTGGCC	0.458													39	124					0	0	1	0	0	A	55587473	G	A	55587473	3	1	197	1	0	0	0	0	1	0	0	0	11204	1087	38	1	370	1	OR5D18	11	55587473	Missense_Mutation	SNP	G	TCGA-FG-7637-01A-11D-2086-08	54499967	55587473	79419043	30	24889											
INPPL1	3636	broad.mit.edu	37	11	71942617	71942617	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-7637-01A-11D-2086-08	TCGA-FG-7637-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea26718-ba34-444f-9122-0faf73b62ea1	c2346512-f289-4ac1-a8c9-460c4f3f0126	g.chr11:71942617G>A	ENST00000298229.2	+	13	1777	c.1573G>A	c.(1573-1575)Gtc>Atc	p.V525I	INPPL1_ENST00000541756.1_Missense_Mutation_p.V283I|INPPL1_ENST00000538751.1_Missense_Mutation_p.V283I	NM_001567.3	NP_001558.3	O15357	SHIP2_HUMAN	inositol polyphosphate phosphatase-like 1	525					actin filament organization|cell adhesion|endocytosis	actin cortical patch|cytosol	actin binding|SH2 domain binding|SH3 domain binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						TATCAGCCATGTCAGTACGTC	0.562													29	58					0	0	1	0	0	A	71942617	G	A	71942617	3	1	197	1	0	0	0	0	1	0	0	0	7805	1377	48	2	1623	2	INPPL1	11	71942617	Missense_Mutation	SNP	G	TCGA-FG-7637-01A-11D-2086-08	16355144	71942617	63063899	31	24890											
LIMA1	51474	broad.mit.edu	37	12	50598436	50598436	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FG-7637-01A-11D-2086-08	TCGA-FG-7637-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea26718-ba34-444f-9122-0faf73b62ea1	c2346512-f289-4ac1-a8c9-460c4f3f0126	g.chr12:50598436G>A	ENST00000341247.4	-	6	912	c.763C>T	c.(763-765)Cga>Tga	p.R255*	LIMA1_ENST00000552783.1_Nonsense_Mutation_p.R95*|LIMA1_ENST00000394943.3_Nonsense_Mutation_p.R255*|LIMA1_ENST00000552823.1_Nonsense_Mutation_p.R95*|LIMA1_ENST00000552008.1_5'UTR|LIMA1_ENST00000552909.1_Nonsense_Mutation_p.R95*	NM_001113546.1|NM_016357.4	NP_001107018.1|NP_057441.1	Q9UHB6	LIMA1_HUMAN	LIM domain and actin binding 1	255					actin filament bundle assembly|negative regulation of actin filament depolymerization|ruffle organization	cytoplasm|focal adhesion|stress fiber	actin filament binding|actin monomer binding|zinc ion binding			NS(1)|breast(4)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(2)	44						TCCAGATTTCGTCTACTCTCA	0.423													52	63					0	0	1	0	0	A	50598436	G	A	50598436	4	1	197	1	0	0	0	0	0	1	0	0	8836	1153	40	1	1543	1	LIMA1	12	50598436	Nonsense_Mutation	SNP	G	TCGA-FG-7637-01A-11D-2086-08		50598436	83253459	32	24891											
C12orf50	160419	broad.mit.edu	37	12	88390403	88390403	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-7637-01A-11D-2086-08	TCGA-FG-7637-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea26718-ba34-444f-9122-0faf73b62ea1	c2346512-f289-4ac1-a8c9-460c4f3f0126	g.chr12:88390403T>C	ENST00000298699.2	-	5	490	c.310A>G	c.(310-312)Aag>Gag	p.K104E	C12orf50_ENST00000550553.1_Missense_Mutation_p.K104E	NM_152589.1	NP_689802.1	Q8NA57	CL050_HUMAN	chromosome 12 open reading frame 50	104										NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|urinary_tract(2)	34						TCAGGGGTCTTTGTCCATAAA	0.289													9	44					0	0	1	0	0	C	88390403	T	C	88390403	3	2	197	1	0	0	0	0	1	0	0	0	1701	1850	64	3	970	3	C12orf50	12	88390403	Missense_Mutation	SNP	T	TCGA-FG-7637-01A-11D-2086-08	37791967	88390403	45461492	33	24892											
GPR180	160897	broad.mit.edu	37	13	95273351	95273351	+	Silent	SNP	A	A	G			TCGA-FG-7637-01A-11D-2086-08	TCGA-FG-7637-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea26718-ba34-444f-9122-0faf73b62ea1	c2346512-f289-4ac1-a8c9-460c4f3f0126	g.chr13:95273351A>G	ENST00000376958.4	+	6	781	c.756A>G	c.(754-756)caA>caG	p.Q252Q		NM_180989.5	NP_851320.1	Q86V85	GP180_HUMAN	G protein-coupled receptor 180	252						integral to membrane				breast(1)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	10	all_neural(89;0.0684)|Medulloblastoma(90;0.163)					TCGCTTCCCAAATTCAGATGT	0.373													9	42					0	0	1	0	0	G	95273351	A	G	95273351	2	3	197	1	0	0	0	0	0	0	0	1	6716	11	1	3		3	GPR180	13	95273351	Silent	SNP	A	TCGA-FG-7637-01A-11D-2086-08		95273351	19896527	34	24893											
SEL1L	6400	broad.mit.edu	37	14	81946063	81946063	+	Missense_Mutation	SNP	A	A	C			TCGA-FG-7637-01A-11D-2086-08	TCGA-FG-7637-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea26718-ba34-444f-9122-0faf73b62ea1	c2346512-f289-4ac1-a8c9-460c4f3f0126	g.chr14:81946063A>C	ENST00000336735.4	-	20	2184	c.2068T>G	c.(2068-2070)Ttt>Gtt	p.F690V		NM_005065.5	NP_005056.3	Q9UBV2	SE1L1_HUMAN	sel-1 suppressor of lin-12-like (C. elegans)	690	Interaction with ERLEC1, OS9 and SYVN1.				Notch signaling pathway	endoplasmic reticulum membrane|integral to membrane	protein binding			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3)	28				BRCA - Breast invasive adenocarcinoma(234;0.0299)		ATGTCATAAAAACGTTTCGCA	0.383													11	50					0	0	1	0	0	C	81946063	A	C	81946063	3	2	197	1	0	0	0	0	1	0	0	0	14064	14	1	5	324	5	SEL1L	14	81946063	Missense_Mutation	SNP	A	TCGA-FG-7637-01A-11D-2086-08		81946063	25403477	35	24894											
ABCA3	21	broad.mit.edu	37	16	2374516	2374516	+	Silent	SNP	G	G	A	rs138952710	by1000genomes	TCGA-FG-7637-01A-11D-2086-08	TCGA-FG-7637-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea26718-ba34-444f-9122-0faf73b62ea1	c2346512-f289-4ac1-a8c9-460c4f3f0126	g.chr16:2374516G>A	ENST00000301732.5	-	6	1036	c.336C>T	c.(334-336)tcC>tcT	p.S112S	ABCA3_ENST00000382381.3_Silent_p.S112S|ABCA3_ENST00000567910.1_Silent_p.S112S	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	112					response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)				AGTCCTTCTCGGAGGGAAAGC	0.587													23	41					0	0	1	0	0	A	2374516	G	A	2374516	2	1	197	1	0	0	0	0	0	0	0	1	33	1103	39	1		1	ABCA3	16	2374516	Silent	SNP	G	TCGA-FG-7637-01A-11D-2086-08		2374516	87980237	36	24895											
RAB34	83871	broad.mit.edu	37	17	27042713	27042713	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-7637-01A-11D-2086-08	TCGA-FG-7637-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea26718-ba34-444f-9122-0faf73b62ea1	c2346512-f289-4ac1-a8c9-460c4f3f0126	g.chr17:27042713C>T	ENST00000395245.3	-	5	951	c.325G>A	c.(325-327)Gct>Act	p.A109T	RAB34_ENST00000301043.6_Missense_Mutation_p.A109T|RAB34_ENST00000395243.3_Missense_Mutation_p.A109T|RAB34_ENST00000395242.2_Missense_Mutation_p.A110T|RAB34_ENST00000447716.1_Missense_Mutation_p.A166T|RAB34_ENST00000415040.2_Missense_Mutation_p.A87T|RAB34_ENST00000450529.1_Missense_Mutation_p.A109T|RAB34_ENST00000436730.3_Missense_Mutation_p.A109T|RAB34_ENST00000453384.3_Missense_Mutation_p.A167T	NM_001256281.1|NM_031934.5	NP_001243210.1|NP_114140.4	Q9BZG1	RAB34_HUMAN	RAB34, member RAS oncogene family	109					protein transport|small GTPase mediated signal transduction	Golgi apparatus	GTP binding			endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|skin(2)	14	Lung NSC(42;0.00431)					TCCTGCCCAGCGGTATCCCAA	0.547													5	175					0	0	1	0	0	T	27042713	C	T	27042713	3	4	197	1	0	0	0	0	1	0	0	0	12976	768	27	1	542	1	RAB34	17	27042713	Missense_Mutation	SNP	C	TCGA-FG-7637-01A-11D-2086-08		27042713	54152497	37	24896											
NLE1	54475	broad.mit.edu	37	17	33464163	33464163	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-7637-01A-11D-2086-08	TCGA-FG-7637-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea26718-ba34-444f-9122-0faf73b62ea1	c2346512-f289-4ac1-a8c9-460c4f3f0126	g.chr17:33464163G>A	ENST00000442241.4	-	7	724	c.685C>T	c.(685-687)Cgg>Tgg	p.R229W	NLE1_ENST00000360831.5_Missense_Mutation_p.R187W|NLE1_ENST00000586869.1_5'UTR|NLE1_ENST00000593176.1_5'UTR	NM_001014445.1|NM_018096.3	NP_001014445.1|NP_060566.2	Q9NVX2	NLE1_HUMAN	notchless homolog 1 (Drosophila)	229						nucleolus				NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	22		Ovarian(249;0.17)				TCCCAGATCCGCACACTGCCA	0.617													18	32					0	0	1	0	0	A	33464163	G	A	33464163	3	1	197	1	0	0	0	0	1	0	0	0	10507	1086	38	1	800	1	NLE1	17	33464163	Missense_Mutation	SNP	G	TCGA-FG-7637-01A-11D-2086-08	6421450	33464163	47731047	38	24897											
HDGFRP2	84717	broad.mit.edu	37	19	4493799	4493801	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-FG-7637-01A-11D-2086-08	TCGA-FG-7637-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea26718-ba34-444f-9122-0faf73b62ea1	c2346512-f289-4ac1-a8c9-460c4f3f0126	g.chr19:4493799_4493801delTCC	ENST00000301284.4	+	7	842_844	c.778_780delTCC	c.(778-780)tccdel	p.S264del	HDGFRP2_ENST00000586684.1_In_Frame_Del_p.S264del	NM_001001520.1|NM_032631.2	NP_001001520|NP_116020.1	Q7Z4V5	HDGR2_HUMAN		264	Ser-rich.				transcription, DNA-dependent	nucleus	DNA binding|protein binding										ctcctcctcttcctcctcctcct	0.675													2	4	---	---	---	---						-	4493801	TCC	-	4493799	7	5	197	1	0	1	0	1	0	0	0	0	7061	1783	62	0	804	0	HDGFRP2	19	4493799	In_Frame_Del	DEL	TCC	TCGA-FG-7637-01A-11D-2086-08		4493799	54635184	39	24898											
FTCD	10841	broad.mit.edu	37	21	47574183	47574183	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-7637-01A-11D-2086-08	TCGA-FG-7637-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea26718-ba34-444f-9122-0faf73b62ea1	c2346512-f289-4ac1-a8c9-460c4f3f0126	g.chr21:47574183C>T	ENST00000397748.1	-	2	161	c.118G>A	c.(118-120)Gca>Aca	p.A40T	FTCD_ENST00000359679.2_Missense_Mutation_p.A40T|FTCD_ENST00000355384.2_Missense_Mutation_p.A40T|FTCD_ENST00000397746.3_Missense_Mutation_p.A40T|FTCD_ENST00000498355.2_5'UTR|FTCD_ENST00000291670.5_Missense_Mutation_p.A40T|FTCD_ENST00000397743.1_Missense_Mutation_p.A40T			O95954	FTCD_HUMAN	formimidoyltransferase cyclodeaminase	40	Formiminotransferase N-subdomain (By similarity).				folic acid-containing compound metabolic process|histidine catabolic process	centriole|cytosol|Golgi apparatus	folic acid binding|formimidoyltetrahydrofolate cyclodeaminase activity|glutamate formimidoyltransferase activity			endometrium(1)|large_intestine(2)|lung(9)|pancreas(1)|prostate(3)|skin(3)	19	Breast(49;0.214)			Colorectal(79;0.235)	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116)	GAAGGGCCTGCGTCCACATCC	0.677													3	44					0	0	1	0	0	T	47574183	C	T	47574183	3	4	197	1	0	0	0	0	1	0	0	0	6116	768	27	1	1559	1	FTCD	21	47574183	Missense_Mutation	SNP	C	TCGA-FG-7637-01A-11D-2086-08		47574183	555712	40	24899											
TOM1	10043	broad.mit.edu	37	22	35726358	35726358	+	Missense_Mutation	SNP	C	C	G			TCGA-FG-7637-01A-11D-2086-08	TCGA-FG-7637-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea26718-ba34-444f-9122-0faf73b62ea1	c2346512-f289-4ac1-a8c9-460c4f3f0126	g.chr22:35726358C>G	ENST00000382034.5	+	9	925	c.583C>G	c.(583-585)Cga>Gga	p.R195G	TOM1_ENST00000449058.2_Missense_Mutation_p.R262G|TOM1_ENST00000436462.2_Missense_Mutation_p.R224G|TOM1_ENST00000411850.1_Missense_Mutation_p.R262G|TOM1_ENST00000425375.1_Missense_Mutation_p.R217G|TOM1_ENST00000447733.1_Missense_Mutation_p.R229G			O60784	TOM1_HUMAN	target of myb1 (chicken)	262					endocytosis|endosome transport|intracellular protein transport	cytosol|early endosome|membrane	protein binding			NS(1)|breast(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2)	19						CCGCACGTGCCGAGCCATGCA	0.537													88	77					0	0	1	0	0	G	35726358	C	G	35726358	3	3	197	1	0	0	0	0	1	0	0	0	16411	644	23	5	814	5	TOM1	22	35726358	Missense_Mutation	SNP	C	TCGA-FG-7637-01A-11D-2086-08		35726358	15578208	41	24900											
LCE5A	254910	broad.mit.edu	37	1	152484246	152484246	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-7638-01B-11D-2086-08	TCGA-FG-7638-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d72784-51c3-4879-8e4d-62fabd342a30	e26e7062-cc3e-445b-8d2b-64726bfcc8ba	g.chr1:152484246G>A	ENST00000334269.2	+	2	412	c.236G>A	c.(235-237)cGa>cAa	p.R79Q		NM_178438.4	NP_848525.1	Q5TCM9	LCE5A_HUMAN	late cornified envelope 5A	79	Cys-rich.				keratinization					lung(3)|ovary(1)|prostate(3)	7	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CAGTCCCTCCGACGCCGACCT	0.682													19	16					0	0	1	0	0	A	152484246	G	A	152484246	3	1	198	1	0	0	0	0	1	0	0	0	8714	1058	37	1	238	1	LCE5A	1	152484246	Missense_Mutation	SNP	G	TCGA-FG-7638-01B-11D-2086-08		152484246	96766375	1	24901											
ASXL2	55252	broad.mit.edu	37	2	25973090	25973094	+	Frame_Shift_Del	DEL	TTCTT	TTCTT	-			TCGA-FG-7638-01B-11D-2086-08	TCGA-FG-7638-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d72784-51c3-4879-8e4d-62fabd342a30	e26e7062-cc3e-445b-8d2b-64726bfcc8ba	g.chr2:25973090_25973094delTTCTT	ENST00000435504.4	-	12	1624_1628	c.1331_1335delAAGAA	c.(1330-1335)aaagaafs	p.KE444fs	ASXL2_ENST00000336112.4_Frame_Shift_Del_p.KE416fs|ASXL2_ENST00000404843.1_Frame_Shift_Del_p.KE184fs|ASXL2_ENST00000272341.4_Frame_Shift_Del_p.KE184fs			Q76L83	ASXL2_HUMAN	additional sex combs like 2 (Drosophila)	444					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTTCACACTCTTCTTTTCTGCCTGG	0.473													9	376	---	---	---	---						-	25973094	TTCTT	-	25973090	7	5	198	1	0	1	0	1	0	0	0	0	1066	1606	56	0	2980	0	ASXL2	2	25973090	Frame_Shift_Del	DEL	TTCTT	TCGA-FG-7638-01B-11D-2086-08		25973090	217226283	2	24902											
GTF3C3	9330	broad.mit.edu	37	2	197657737	197657737	+	Silent	SNP	C	C	T			TCGA-FG-7638-01B-11D-2086-08	TCGA-FG-7638-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d72784-51c3-4879-8e4d-62fabd342a30	e26e7062-cc3e-445b-8d2b-64726bfcc8ba	g.chr2:197657737C>T	ENST00000263956.3	-	3	443	c.354G>A	c.(352-354)gcG>gcA	p.A118A	GTF3C3_ENST00000409364.3_Silent_p.A118A	NM_012086.4	NP_036218.1	Q9Y5Q9	TF3C3_HUMAN	general transcription factor IIIC, polypeptide 3, 102kDa	118						transcription factor TFIIIC complex	DNA binding|protein binding			breast(4)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						ATACATCGCCCGCAGTGGGTT	0.403													16	32					0	0	1	0	0	T	197657737	C	T	197657737	2	4	198	1	0	0	0	0	0	0	0	1	6915	639	23	1		1	GTF3C3	2	197657737	Silent	SNP	C	TCGA-FG-7638-01B-11D-2086-08	171684647	197657737	45541636	3	24903											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-FG-7638-01B-11D-2086-08	TCGA-FG-7638-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d72784-51c3-4879-8e4d-62fabd342a30	e26e7062-cc3e-445b-8d2b-64726bfcc8ba	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	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								28	51					0	0	1	0	0	T	209113112	C	T	209113112	3	4	198	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-FG-7638-01B-11D-2086-08	11455375	209113112	34086261	4	24904											
ZPLD1	131368	broad.mit.edu	37	3	102181219	102181219	+	Missense_Mutation	SNP	G	G	A	rs150699636		TCGA-FG-7638-01B-11D-2086-08	TCGA-FG-7638-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d72784-51c3-4879-8e4d-62fabd342a30	e26e7062-cc3e-445b-8d2b-64726bfcc8ba	g.chr3:102181219G>A	ENST00000306176.1	+	6	825	c.725G>A	c.(724-726)gGc>gAc	p.G242D	ZPLD1_ENST00000491959.1_Missense_Mutation_p.G226D|ZPLD1_ENST00000466937.1_Missense_Mutation_p.G226D	NM_175056.1	NP_778226.1	Q8TCW7	ZPLD1_HUMAN	zona pellucida-like domain containing 1	226	ZP.			N -> S (in Ref. 3; AAH31261).		integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(18)|ovary(2)|skin(3)	35						AATTTGGATGGCAGGTAATTT	0.358													12	16					0	0	1	0	0	A	102181219	G	A	102181219	3	1	198	1	0	0	0	0	1	0	0	0	18263	1203	42	2	747	2	ZPLD1	3	102181219	Missense_Mutation	SNP	G	TCGA-FG-7638-01B-11D-2086-08		102181219	95841211	5	24905											
GPRIN1	114787	broad.mit.edu	37	5	176026758	176026758	+	Silent	SNP	G	G	A			TCGA-FG-7638-01B-11D-2086-08	TCGA-FG-7638-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d72784-51c3-4879-8e4d-62fabd342a30	e26e7062-cc3e-445b-8d2b-64726bfcc8ba	g.chr5:176026758G>A	ENST00000303991.4	-	2	255	c.78C>T	c.(76-78)gcC>gcT	p.A26A		NM_052899.2	NP_443131.2	Q7Z2K8	GRIN1_HUMAN	G protein regulated inducer of neurite outgrowth 1	26						growth cone|plasma membrane				NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(89;0.00263)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGCAGAAGAAGGCTGTGGGTC	0.642													20	32					0	0	1	0	0	A	176026758	G	A	176026758	2	1	198	1	0	0	0	0	0	0	0	1	6770	987	35	2		2	GPRIN1	5	176026758	Silent	SNP	G	TCGA-FG-7638-01B-11D-2086-08		176026758	4888502	6	24906											
TRRAP	8295	broad.mit.edu	37	7	98576479	98576479	+	Silent	SNP	C	C	T			TCGA-FG-7638-01B-11D-2086-08	TCGA-FG-7638-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d72784-51c3-4879-8e4d-62fabd342a30	e26e7062-cc3e-445b-8d2b-64726bfcc8ba	g.chr7:98576479C>T	ENST00000359863.4	+	57	8774	c.8565C>T	c.(8563-8565)tgC>tgT	p.C2855C	TRRAP_ENST00000355540.3_Silent_p.C2837C|TRRAP_ENST00000446306.3_Silent_p.C2837C	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	2855	FAT.				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity	p.C2837C(1)|p.C2855C(1)		NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TCCTGGAGTGCGCCTGGCGGG	0.617													4	71					0	0	1	0	0	T	98576479	C	T	98576479	2	4	198	1	0	0	0	0	0	0	0	1	16662	776	27	1		1	TRRAP	7	98576479	Silent	SNP	C	TCGA-FG-7638-01B-11D-2086-08		98576479	60562184	7	24907											
DLC1	10395	broad.mit.edu	37	8	12957624	12957624	+	Missense_Mutation	SNP	C	C	G			TCGA-FG-7638-01B-11D-2086-08	TCGA-FG-7638-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d72784-51c3-4879-8e4d-62fabd342a30	e26e7062-cc3e-445b-8d2b-64726bfcc8ba	g.chr8:12957624C>G	ENST00000276297.4	-	9	2631	c.2222G>C	c.(2221-2223)aGc>aCc	p.S741T	DLC1_ENST00000512044.2_Missense_Mutation_p.S338T|DLC1_ENST00000358919.2_Missense_Mutation_p.S304T|DLC1_ENST00000520226.1_Missense_Mutation_p.S230T	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1	741	Poly-Ser.				actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						GCTGCTGCTGCTGGTCTGCGT	0.627													3	57					0	0	1	0	0	G	12957624	C	G	12957624	3	3	198	1	0	0	0	0	1	0	0	0	4578	797	28	4	2404	4	DLC1	8	12957624	Missense_Mutation	SNP	C	TCGA-FG-7638-01B-11D-2086-08		12957624	133406398	8	24908											
NEFM	4741	broad.mit.edu	37	8	24772187	24772187	+	Missense_Mutation	SNP	G	G	C			TCGA-FG-7638-01B-11D-2086-08	TCGA-FG-7638-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d72784-51c3-4879-8e4d-62fabd342a30	e26e7062-cc3e-445b-8d2b-64726bfcc8ba	g.chr8:24772187G>C	ENST00000221166.5	+	1	1663	c.881G>C	c.(880-882)tGc>tCc	p.C294S	NEFM_ENST00000437366.2_Missense_Mutation_p.C294S|NEFM_ENST00000518131.1_Missense_Mutation_p.C294S|GS1-72M22.1_ENST00000607058.1_RNA|NEFM_ENST00000521540.1_3'UTR			P07197	NFM_HUMAN	neurofilament, medium polypeptide	294	Coil 2B.|Rod.					neurofilament	protein binding|structural constituent of cytoskeleton			breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1)	36		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		TGGTTCAAATGCCGCTACGCC	0.602													6	55					0	0	1	0	0	C	24772187	G	C	24772187	3	2	198	1	0	0	0	0	1	0	0	0	10363	1319	46	5	883	5	NEFM	8	24772187	Missense_Mutation	SNP	G	TCGA-FG-7638-01B-11D-2086-08	11814563	24772187	121591835	9	24909											
ZFAND5	7763	broad.mit.edu	37	9	74970965	74970965	+	Silent	SNP	G	G	A			TCGA-FG-7638-01B-11D-2086-08	TCGA-FG-7638-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d72784-51c3-4879-8e4d-62fabd342a30	e26e7062-cc3e-445b-8d2b-64726bfcc8ba	g.chr9:74970965G>A	ENST00000237937.3	-	6	1103	c.546C>T	c.(544-546)gaC>gaT	p.D182D	ZFAND5_ENST00000488164.1_5'UTR|ZFAND5_ENST00000376962.5_Silent_p.D182D|ZFAND5_ENST00000343431.2_Silent_p.D182D|ZFAND5_ENST00000376960.4_Silent_p.D182D	NM_001102421.1|NM_001278243.1|NM_001278244.1|NM_001278245.1|NM_006007.2	NP_001095891.1|NP_001265172.1|NP_001265173.1|NP_001265174.1|NP_005998.1	O76080	ZFAN5_HUMAN	zinc finger, AN1-type domain 5	182							DNA binding|zinc ion binding			cervix(1)|kidney(2)|lung(2)|prostate(1)	6						AGTTGTGCTTGTCAGAGTAAC	0.378													31	39					0	0	1	0	0	A	74970965	G	A	74970965	2	1	198	1	0	0	0	0	0	0	0	1	17688	1368	48	2		2	ZFAND5	9	74970965	Silent	SNP	G	TCGA-FG-7638-01B-11D-2086-08		74970965	66242466	10	24910											
ST6GALNAC4	27090	broad.mit.edu	37	9	130672316	130672316	+	Silent	SNP	G	G	C			TCGA-FG-7638-01B-11D-2086-08	TCGA-FG-7638-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d72784-51c3-4879-8e4d-62fabd342a30	e26e7062-cc3e-445b-8d2b-64726bfcc8ba	g.chr9:130672316G>C	ENST00000335791.5	-	5	908	c.633C>G	c.(631-633)ctC>ctG	p.L211L	ST6GALNAC4_ENST00000343609.2_Silent_p.L127L|ST6GALNAC4_ENST00000495983.1_5'UTR	NM_175039.3	NP_778204.1	Q9H4F1	SIA7D_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 4	211					glycolipid metabolic process|protein glycosylation	integral to Golgi membrane|nucleus|soluble fraction	(alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl-galactosaminide 6-alpha-sialyltransferase activity			endometrium(1)|large_intestine(2)|lung(2)|prostate(2)	7						AGCCGGTGCTGAGGAAGGAGC	0.642													14	33					0	0	1	0	0	C	130672316	G	C	130672316	2	2	198	1	0	0	0	0	0	0	0	1	15282	1277	45	5		5	ST6GALNAC4	9	130672316	Silent	SNP	G	TCGA-FG-7638-01B-11D-2086-08	55701351	130672316	10541115	11	24911											
NOTCH1	4851	broad.mit.edu	37	9	139412302	139412302	+	Missense_Mutation	SNP	C	C	A			TCGA-FG-7638-01B-11D-2086-08	TCGA-FG-7638-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d72784-51c3-4879-8e4d-62fabd342a30	e26e7062-cc3e-445b-8d2b-64726bfcc8ba	g.chr9:139412302C>A	ENST00000277541.6	-	8	1418	c.1343G>T	c.(1342-1344)cGa>cTa	p.R448L		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	448	EGF-like 11; calcium-binding (Potential).				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GATCTCGCATCGGGGGCCCGT	0.647			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			6	90					5.18039e-06	5.18039e-06	1	1	0	A	139412302	C	A	139412302	3	1	198	1	0	0	0	0	1	0	0	0	10594	884	31	5	6432	5	NOTCH1	9	139412302	Missense_Mutation	SNP	C	TCGA-FG-7638-01B-11D-2086-08	8739986	139412302	1801129	12	24912											
GDPD5	81544	broad.mit.edu	37	11	75148073	75148073	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-7638-01B-11D-2086-08	TCGA-FG-7638-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d72784-51c3-4879-8e4d-62fabd342a30	e26e7062-cc3e-445b-8d2b-64726bfcc8ba	g.chr11:75148073C>T	ENST00000526177.1	-	12	3041	c.1163G>A	c.(1162-1164)cGg>cAg	p.R388Q	GDPD5_ENST00000529721.1_Missense_Mutation_p.R526Q|GDPD5_ENST00000533805.1_Missense_Mutation_p.R281Q|GDPD5_ENST00000443276.2_3'UTR|GDPD5_ENST00000336898.3_Missense_Mutation_p.R526Q|GDPD5_ENST00000533784.1_Missense_Mutation_p.R407Q|GDPD5_ENST00000376282.3_Missense_Mutation_p.R407Q			Q8WTR4	GDPD5_HUMAN	glycerophosphodiester phosphodiesterase domain containing 5	526	GDPD.				glycerol metabolic process|lipid metabolic process|nervous system development	endomembrane system|growth cone|integral to membrane|perinuclear region of cytoplasm	glycerophosphodiester phosphodiesterase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|skin(2)	20						GTTGTAGCTCCGTATGCCACC	0.607													3	51					0	0	1	0	0	T	75148073	C	T	75148073	3	4	198	1	0	0	0	0	1	0	0	0	6369	652	23	1	248	1	GDPD5	11	75148073	Missense_Mutation	SNP	C	TCGA-FG-7638-01B-11D-2086-08		75148073	59858443	13	24913											
OR10G4	390264	broad.mit.edu	37	11	123886809	123886809	+	Silent	SNP	C	C	T	rs3017763		TCGA-FG-7638-01B-11D-2086-08	TCGA-FG-7638-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d72784-51c3-4879-8e4d-62fabd342a30	e26e7062-cc3e-445b-8d2b-64726bfcc8ba	g.chr11:123886809C>T	ENST00000320891.4	+	1	528	c.528C>T	c.(526-528)taC>taT	p.Y176Y		NM_001004462.1	NP_001004462.1	Q8NGN3	O10G4_HUMAN	olfactory receptor, family 10, subfamily G, member 4	176					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)|skin(4)|stomach(6)|upper_aerodigestive_tract(1)	48		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		TCCAGCACTACTTCTGTGACG	0.557													5	225					0	0	1	0	0	T	123886809	C	T	123886809	2	4	198	1	0	0	0	0	0	0	0	1	10949	576	20	2		2	OR10G4	11	123886809	Silent	SNP	C	TCGA-FG-7638-01B-11D-2086-08	48738736	123886809	11119707	14	24914											
DPY19L2	283417	broad.mit.edu	37	12	64057543	64057543	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-7638-01B-11D-2086-08	TCGA-FG-7638-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d72784-51c3-4879-8e4d-62fabd342a30	e26e7062-cc3e-445b-8d2b-64726bfcc8ba	g.chr12:64057543C>T	ENST00000324472.4	-	3	628	c.445G>A	c.(445-447)Gaa>Aaa	p.E149K	RP11-415I12.3_ENST00000509615.2_RNA	NM_173812.4	NP_776173.3	Q6NUT2	D19L2_HUMAN	dpy-19-like 2 (C. elegans)	149					multicellular organismal development|spermatid development	integral to membrane		p.E149*(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45			GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)		CTAACCATTTCAGTGCGAAAA	0.333													27	54					0	0	1	0	0	T	64057543	C	T	64057543	3	4	198	1	0	0	0	0	1	0	0	0	4767	835	29	2	1911	2	DPY19L2	12	64057543	Missense_Mutation	SNP	C	TCGA-FG-7638-01B-11D-2086-08		64057543	69794352	15	24915											
TMEM19	55266	broad.mit.edu	37	12	72091160	72091160	+	Silent	SNP	C	C	T			TCGA-FG-7638-01B-11D-2086-08	TCGA-FG-7638-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d72784-51c3-4879-8e4d-62fabd342a30	e26e7062-cc3e-445b-8d2b-64726bfcc8ba	g.chr12:72091160C>T	ENST00000266673.5	+	4	1077	c.483C>T	c.(481-483)gtC>gtT	p.V161V	TMEM19_ENST00000549735.1_Silent_p.V161V|RP11-293I14.2_ENST00000548802.1_3'UTR	NM_018279.3	NP_060749.2	Q96HH6	TMM19_HUMAN	transmembrane protein 19	161						integral to membrane				large_intestine(1)|lung(8)	9		Breast(359;0.0889)		GBM - Glioblastoma multiforme(134;0.044)		AAATCCCAGTCGATTTTTCCA	0.532													8	92					0	0	1	0	0	T	72091160	C	T	72091160	2	4	198	1	0	0	0	0	0	0	0	1	16173	871	31	1		1	TMEM19	12	72091160	Silent	SNP	C	TCGA-FG-7638-01B-11D-2086-08	8033617	72091160	61760735	16	24916											
MYO5C	55930	broad.mit.edu	37	15	52537632	52537632	+	Silent	SNP	G	G	A			TCGA-FG-7638-01B-11D-2086-08	TCGA-FG-7638-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d72784-51c3-4879-8e4d-62fabd342a30	e26e7062-cc3e-445b-8d2b-64726bfcc8ba	g.chr15:52537632G>A	ENST00000261839.7	-	18	2258	c.2097C>T	c.(2095-2097)taC>taT	p.Y699Y	MYO5C_ENST00000443683.2_3'UTR	NM_018728.3	NP_061198.2	Q9NQX4	MYO5C_HUMAN	myosin VC	699	Myosin head-like.					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		TGAGAATGCCGTAGCGACTGT	0.507													4	136					0	0	1	0	0	A	52537632	G	A	52537632	2	1	198	1	0	0	0	0	0	0	0	1	10128	1140	40	1		1	MYO5C	15	52537632	Silent	SNP	G	TCGA-FG-7638-01B-11D-2086-08		52537632	49993760	17	24917											
CNTNAP4	85445	broad.mit.edu	37	16	76482070	76482070	+	Silent	SNP	C	C	T			TCGA-FG-7638-01B-11D-2086-08	TCGA-FG-7638-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d72784-51c3-4879-8e4d-62fabd342a30	e26e7062-cc3e-445b-8d2b-64726bfcc8ba	g.chr16:76482070C>T	ENST00000307431.8	+	6	1082	c.697C>T	c.(697-699)Ctg>Ttg	p.L233L	CNTNAP4_ENST00000478060.1_Silent_p.L209L|CNTNAP4_ENST00000476707.1_Silent_p.L237L|CNTNAP4_ENST00000377504.4_Silent_p.L233L|CNTNAP4_ENST00000469589.1_3'UTR	NM_033401.3	NP_207837.2	Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	234	Laminin G-like 1.				cell adhesion|signal transduction	integral to membrane	receptor binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						TCACATCACACTGCAATTAAG	0.368													3	43					0	0	1	0	0	T	76482070	C	T	76482070	2	4	198	1	0	0	0	0	0	0	0	1	3672	564	20	2		2	CNTNAP4	16	76482070	Silent	SNP	C	TCGA-FG-7638-01B-11D-2086-08		76482070	13872683	18	24918											
ZZEF1	23140	broad.mit.edu	37	17	3924509	3924509	+	Missense_Mutation	SNP	G	G	A	rs146431554	byFrequency	TCGA-FG-7638-01B-11D-2086-08	TCGA-FG-7638-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d72784-51c3-4879-8e4d-62fabd342a30	e26e7062-cc3e-445b-8d2b-64726bfcc8ba	g.chr17:3924509G>A	ENST00000381638.2	-	45	7442	c.7318C>T	c.(7318-7320)Cgg>Tgg	p.R2440W		NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	2440							calcium ion binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						CTGACTGGCCGTTCCACCTCT	0.557													4	100					0	0	1	0	0	A	3924509	G	A	3924509	3	1	198	1	0	0	0	0	1	0	0	0	18295	1144	40	1	1611	1	ZZEF1	17	3924509	Missense_Mutation	SNP	G	TCGA-FG-7638-01B-11D-2086-08		3924509	77270701	19	24919											
DNAH9	1770	broad.mit.edu	37	17	11554444	11554444	+	Missense_Mutation	SNP	C	C	A			TCGA-FG-7638-01B-11D-2086-08	TCGA-FG-7638-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d72784-51c3-4879-8e4d-62fabd342a30	e26e7062-cc3e-445b-8d2b-64726bfcc8ba	g.chr17:11554444C>A	ENST00000262442.4	+	13	2224	c.2156C>A	c.(2155-2157)cCt>cAt	p.P719H	DNAH9_ENST00000454412.2_Missense_Mutation_p.P719H	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9		Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		AAACACATGCCTGAGACAGCA	0.433													73	114					7.68447e-34	8.1365e-34	1	1	0	A	11554444	C	A	11554444	3	1	198	1	0	0	0	0	1	0	0	0	4635	681	24	4	2206	4	DNAH9	17	11554444	Missense_Mutation	SNP	C	TCGA-FG-7638-01B-11D-2086-08	7629935	11554444	69640766	20	24920											
UTS2R	2837	broad.mit.edu	37	17	80332481	80332481	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-7638-01B-11D-2086-08	TCGA-FG-7638-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d72784-51c3-4879-8e4d-62fabd342a30	e26e7062-cc3e-445b-8d2b-64726bfcc8ba	g.chr17:80332481C>T	ENST00000313135.2	+	1	329	c.281C>T	c.(280-282)gCg>gTg	p.A94V		NM_018949.1	NP_061822.1	Q9UKP6	UR2R_HUMAN	urotensin 2 receptor	94						integral to membrane|plasma membrane				breast(1)|endometrium(4)|kidney(1)|lung(2)	8	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.00928)|BRCA - Breast invasive adenocarcinoma(99;0.0833)			GTCAACCTGGCGCTGGCCGAC	0.662													7	12					0	0	1	0	0	T	80332481	C	T	80332481	3	4	198	1	0	0	0	0	1	0	0	0	17166	768	27	1	283	1	UTS2R	17	80332481	Missense_Mutation	SNP	C	TCGA-FG-7638-01B-11D-2086-08	68778037	80332481	862729	21	24921											
MUC16	94025	broad.mit.edu	37	19	9090831	9090831	+	Silent	SNP	A	A	G			TCGA-FG-7638-01B-11D-2086-08	TCGA-FG-7638-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d72784-51c3-4879-8e4d-62fabd342a30	e26e7062-cc3e-445b-8d2b-64726bfcc8ba	g.chr19:9090831A>G	ENST00000397910.4	-	1	1187	c.984T>C	c.(982-984)ccT>ccC	p.P328P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	328	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TCATGGAAAAAGGGATAGCTG	0.522													4	84					0	0	1	0	0	G	9090831	A	G	9090831	2	3	198	1	0	0	0	0	0	0	0	1	10021	59	3	3		3	MUC16	19	9090831	Silent	SNP	A	TCGA-FG-7638-01B-11D-2086-08		9090831	50038152	22	24922											
CIC	23152	broad.mit.edu	37	19	42791757	42791757	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-7638-01B-11D-2086-08	TCGA-FG-7638-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d72784-51c3-4879-8e4d-62fabd342a30	e26e7062-cc3e-445b-8d2b-64726bfcc8ba	g.chr19:42791757C>T	ENST00000572681.2	+	6	3438	c.3370C>T	c.(3370-3372)Cgg>Tgg	p.R1124W	CIC_ENST00000160740.3_Missense_Mutation_p.R215W|CIC_ENST00000575354.2_Missense_Mutation_p.R215W			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	215	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	p.R215W(4)		autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CAAGCGGCACCGGGCCCTGGT	0.612			"Mis, F, S"		oligodendroglioma								36	20					0	0	1	0	0	T	42791757	C	T	42791757	3	4	198	1	0	0	0	0	1	0	0	0	3446	643	23	1	661	1	CIC	19	42791757	Missense_Mutation	SNP	C	TCGA-FG-7638-01B-11D-2086-08	33700926	42791757	16337226	23	24923											
CIC	23152	broad.mit.edu	37	19	42793431	42793431	+	Silent	SNP	G	G	A			TCGA-FG-7638-01B-11D-2086-08	TCGA-FG-7638-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d72784-51c3-4879-8e4d-62fabd342a30	e26e7062-cc3e-445b-8d2b-64726bfcc8ba	g.chr19:42793431G>A	ENST00000572681.2	+	9	4028	c.3960G>A	c.(3958-3960)gcG>gcA	p.A1320A	CIC_ENST00000160740.3_Silent_p.A411A|CIC_ENST00000575354.2_Silent_p.A411A			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	411					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				GTGCCTTGGCGGCCACTGGGC	0.637			"Mis, F, S"		oligodendroglioma								27	9					0	0	1	0	0	A	42793431	G	A	42793431	2	1	198	1	0	0	0	0	0	0	0	1	3446	1103	39	1		1	CIC	19	42793431	Silent	SNP	G	TCGA-FG-7638-01B-11D-2086-08	1674	42793431	16335552	24	24924											
KIR2DL1	3802	broad.mit.edu	37	19	55285075	55285075	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-7638-01B-11D-2086-08	TCGA-FG-7638-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d72784-51c3-4879-8e4d-62fabd342a30	e26e7062-cc3e-445b-8d2b-64726bfcc8ba	g.chr19:55285075G>A	ENST00000336077.6	+	3	401	c.361G>A	c.(361-363)Gtg>Atg	p.V121M	KIR2DL4_ENST00000396284.2_Intron|KIR3DL1_ENST00000538269.1_Intron|KIR3DL1_ENST00000541392.1_Intron|KIR3DL1_ENST00000402254.2_Intron|CTB-61M7.1_ENST00000400864.3_RNA|KIR2DL3_ENST00000434419.2_Intron|KIR2DL1_ENST00000291633.7_Missense_Mutation_p.V121M	NM_014218.2	NP_055033.2	P43626	KI2L1_HUMAN	killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1	121					immune response|natural killer cell inhibitory signaling pathway	integral to plasma membrane	protein binding|receptor activity			breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	17				GBM - Glioblastoma multiforme(193;0.0192)		TCTGGACATCGTGATCATAGG	0.517													10	193					0	0	1	0	0	A	55285075	G	A	55285075	3	1	198	1	0	0	0	0	1	0	0	0	8359	1145	40	1	371	1	KIR2DL1	19	55285075	Missense_Mutation	SNP	G	TCGA-FG-7638-01B-11D-2086-08	12491644	55285075	3843908	25	24925											
THOC5	8563	broad.mit.edu	37	22	29913039	29913039	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-7638-01B-11D-2086-08	TCGA-FG-7638-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d72784-51c3-4879-8e4d-62fabd342a30	e26e7062-cc3e-445b-8d2b-64726bfcc8ba	g.chr22:29913039C>T	ENST00000490103.1	-	17	1782	c.1660G>A	c.(1660-1662)Gcg>Acg	p.A554T	THOC5_ENST00000397872.1_Missense_Mutation_p.A554T|THOC5_ENST00000397873.2_Missense_Mutation_p.A554T|CTA-256D12.11_ENST00000411969.1_RNA|THOC5_ENST00000397871.1_Missense_Mutation_p.A554T	NM_003678.4	NP_003669.4	Q13769	THOC5_HUMAN	THO complex 5	554					intronless viral mRNA export from host nucleus|monocyte differentiation|mRNA processing|primitive hemopoiesis|RNA splicing	cytoplasm|intermediate filament cytoskeleton|THO complex part of transcription export complex	protein binding|RNA binding			NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TCGATGAGCGCCATGTAGTAG	0.537													5	173					0	0	1	0	0	T	29913039	C	T	29913039	3	4	198	1	0	0	0	0	1	0	0	0	15928	739	26	2	407	2	THOC5	22	29913039	Missense_Mutation	SNP	C	TCGA-FG-7638-01B-11D-2086-08		29913039	21391527	26	24926											
DDX17	10521	broad.mit.edu	37	22	38890935	38890935	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-7638-01B-11D-2086-08	TCGA-FG-7638-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d72784-51c3-4879-8e4d-62fabd342a30	e26e7062-cc3e-445b-8d2b-64726bfcc8ba	g.chr22:38890935T>C	ENST00000396821.3	-	7	1096	c.997A>G	c.(997-999)Atg>Gtg	p.M333V	DDX17_ENST00000432525.1_5'UTR|DDX17_ENST00000381633.3_Missense_Mutation_p.M254V	NM_001098504.1|NM_006386.4	NP_001091974|NP_006377.2	Q92841	DDX17_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 17	254	Helicase C-terminal.				RNA processing	nucleus	ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity|RNA-dependent ATPase activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	25	Melanoma(58;0.0286)					TCAAACCCCATATCAAGCATT	0.433													4	147					0	0	1	0	0	C	38890935	T	C	38890935	3	2	198	1	0	0	0	0	1	0	0	0	4367	1406	49	3	1226	3	DDX17	22	38890935	Missense_Mutation	SNP	T	TCGA-FG-7638-01B-11D-2086-08	8977896	38890935	12413631	27	24927											
KAL1	3730	broad.mit.edu	37	X	8503844	8503844	+	Missense_Mutation	SNP	G	G	T			TCGA-FG-7638-01B-11D-2086-08	TCGA-FG-7638-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d72784-51c3-4879-8e4d-62fabd342a30	e26e7062-cc3e-445b-8d2b-64726bfcc8ba	g.chrX:8503844G>T	ENST00000262648.3	-	12	1779	c.1630C>A	c.(1630-1632)Ctt>Att	p.L544I	KAL1_ENST00000481896.1_5'UTR	NM_000216.2	NP_000207.2	P23352	KALM_HUMAN	Kallmann syndrome 1 sequence	544					axon guidance|cell adhesion|cellular component movement	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|serine-type endopeptidase inhibitor activity			breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(1)	32						ACCTTAGAAAGAACATGACCT	0.483													18	36					1.66031e-10	1.70774e-10	1	1	0	T	8503844	G	T	8503844	3	4	198	1	0	0	0	0	1	0	0	0	8018	942	33	4	424	4	KAL1	23	8503844	Missense_Mutation	SNP	G	TCGA-FG-7638-01B-11D-2086-08		8503844	146766716	28	24928											
USP11	8237	broad.mit.edu	37	X	47104794	47104794	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-7638-01B-11D-2086-08	TCGA-FG-7638-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d72784-51c3-4879-8e4d-62fabd342a30	e26e7062-cc3e-445b-8d2b-64726bfcc8ba	g.chrX:47104794G>A	ENST00000377107.2	+	17	2537	c.2183G>A	c.(2182-2184)gGg>gAg	p.G728E	USP11_ENST00000218348.3_Missense_Mutation_p.G771E			P51784	UBP11_HUMAN	ubiquitin specific peptidase 11	771					protein deubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|ovary(3)|pancreas(1)|stomach(1)	40						GACTGCGTCGGGTACGTGATG	0.597													16	38					0	0	1	0	0	A	47104794	G	A	47104794	3	1	198	1	0	0	0	0	1	0	0	0	17102	1232	43	2	2378	2	USP11	23	47104794	Missense_Mutation	SNP	G	TCGA-FG-7638-01B-11D-2086-08	38600950	47104794	108165766	29	24929											
ATRX	546	broad.mit.edu	37	X	76937357	76937357	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-7638-01B-11D-2086-08	TCGA-FG-7638-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d72784-51c3-4879-8e4d-62fabd342a30	e26e7062-cc3e-445b-8d2b-64726bfcc8ba	g.chrX:76937357T>C	ENST00000373344.5	-	9	3605	c.3391A>G	c.(3391-3393)Aga>Gga	p.R1131G	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.R1093G	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1131					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)	AATTCTATTCTTTTCAGTCTC	0.343			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						58	65					0	0	1	0	0	C	76937357	T	C	76937357	3	2	198	1	0	0	0	0	1	0	0	0	1206	1617	56	3	4195	3	ATRX	23	76937357	Missense_Mutation	SNP	T	TCGA-FG-7638-01B-11D-2086-08	29832563	76937357	78333203	30	24930											
ARMCX2	9823	broad.mit.edu	37	X	100912542	100912542	+	Silent	SNP	C	C	T			TCGA-FG-7638-01B-11D-2086-08	TCGA-FG-7638-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d72784-51c3-4879-8e4d-62fabd342a30	e26e7062-cc3e-445b-8d2b-64726bfcc8ba	g.chrX:100912542C>T	ENST00000328766.5	-	5	486	c.33G>A	c.(31-33)gcG>gcA	p.A11A	ARMCX2_ENST00000356824.4_Silent_p.A11A|ARMCX2_ENST00000467416.1_5'UTR|ARMCX2_ENST00000330154.2_Silent_p.A11A	NM_014782.5	NP_055597.1	Q7L311	ARMX2_HUMAN	armadillo repeat containing, X-linked 2	11						integral to membrane	binding			NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(6)|prostate(1)|skin(1)	29						CTATCCCCGCCGCTACACAGC	0.567													63	100					0	0	1	0	0	T	100912542	C	T	100912542	2	4	198	1	0	0	0	0	0	0	0	1	959	639	23	1		1	ARMCX2	23	100912542	Silent	SNP	C	TCGA-FG-7638-01B-11D-2086-08	23975185	100912542	54358018	31	24931											
FLNA	2316	broad.mit.edu	37	X	153593614	153593614	+	Silent	SNP	G	G	A			TCGA-FG-7638-01B-11D-2086-08	TCGA-FG-7638-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d72784-51c3-4879-8e4d-62fabd342a30	e26e7062-cc3e-445b-8d2b-64726bfcc8ba	g.chrX:153593614G>A	ENST00000422373.1	-	11	1829	c.1581C>T	c.(1579-1581)cgC>cgT	p.R527R	FLNA_ENST00000369850.3_Silent_p.R527R|FLNA_ENST00000344736.4_Silent_p.R527R|FLNA_ENST00000360319.4_Silent_p.R527R	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN	filamin A, alpha	527					actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TCTGCTTCACGCGCTCCTCTC	0.622													5	159					0	0	1	0	0	A	153593614	G	A	153593614	2	1	198	1	0	0	0	0	0	0	0	1	5966	1074	38	1		1	FLNA	23	153593614	Silent	SNP	G	TCGA-FG-7638-01B-11D-2086-08	52681072	153593614	1676946	32	24932											
SLC26A9	115019	broad.mit.edu	37	1	205887977	205887977	+	Missense_Mutation	SNP	G	G	C			TCGA-FG-7641-01B-11D-2253-08	TCGA-FG-7641-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	739e3612-208f-4004-a714-d0839f9b5e24	4e9b5d71-7edb-4c2f-b79f-eed7aff5a455	g.chr1:205887977G>C	ENST00000367135.3	-	19	2360	c.2247C>G	c.(2245-2247)aaC>aaG	p.N749K	SLC26A9_ENST00000367134.2_Missense_Mutation_p.N749K|SLC26A9_ENST00000340781.4_Missense_Mutation_p.N749K	NM_052934.3	NP_443166.1	Q7LBE3	S26A9_HUMAN	solute carrier family 26 (anion exchanger), member 9	749						integral to membrane	chloride channel activity|secondary active sulfate transmembrane transporter activity			NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5)	52	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0458)			CCCCTTGGAAGTTGTGTCCTG	0.502											OREG0014164	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	241					0	0	1	0	0	C	205887977	G	C	205887977	3	2	199	1	0	0	0	0	1	0	0	0	14579	1020	36	4	436	4	SLC26A9	1	205887977	Missense_Mutation	SNP	G	TCGA-FG-7641-01B-11D-2253-08		205887977	43362644	1	24933											
REV1	51455	broad.mit.edu	37	2	100079071	100079071	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-7641-01B-11D-2253-08	TCGA-FG-7641-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	739e3612-208f-4004-a714-d0839f9b5e24	4e9b5d71-7edb-4c2f-b79f-eed7aff5a455	g.chr2:100079071G>A	ENST00000258428.3	-	3	296	c.68C>T	c.(67-69)gCt>gTt	p.A23V	REV1_ENST00000393445.3_Missense_Mutation_p.A23V	NM_001037872.1|NM_016316.2	NP_001032961.1|NP_057400.1	Q9UBZ9	REV1_HUMAN	REV1, polymerase (DNA directed)	23					DNA replication|error-prone translesion synthesis|response to UV	nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|magnesium ion binding|protein binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(12)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GACCTTGGCAGCCATATACCC	0.358								Direct reversal of damage					8	194					0	0	1	0	0	A	100079071	G	A	100079071	3	1	199	1	0	0	0	0	1	0	0	0	13291	971	34	2	3771	2	REV1	2	100079071	Missense_Mutation	SNP	G	TCGA-FG-7641-01B-11D-2253-08		100079071	143120302	2	24934											
TNFAIP6	7130	broad.mit.edu	37	2	152226605	152226605	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-7641-01B-11D-2253-08	TCGA-FG-7641-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	739e3612-208f-4004-a714-d0839f9b5e24	4e9b5d71-7edb-4c2f-b79f-eed7aff5a455	g.chr2:152226605G>A	ENST00000243347.3	+	4	541	c.466G>A	c.(466-468)Gaa>Aaa	p.E156K		NM_007115.3	NP_009046.2	P98066	TSG6_HUMAN	tumor necrosis factor, alpha-induced protein 6	156	CUB.				cell adhesion|cell-cell signaling|inflammatory response|signal transduction		hyaluronic acid binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.131)		AAATGAGTACGAAGATAACCA	0.388													10	126					0	0	1	0	0	A	152226605	G	A	152226605	3	1	199	1	0	0	0	0	1	0	0	0	16335	1059	37	1	480	1	TNFAIP6	2	152226605	Missense_Mutation	SNP	G	TCGA-FG-7641-01B-11D-2253-08	52147534	152226605	90972768	3	24935											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-FG-7641-01B-11D-2253-08	TCGA-FG-7641-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	739e3612-208f-4004-a714-d0839f9b5e24	4e9b5d71-7edb-4c2f-b79f-eed7aff5a455	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								32	86					0	0	1	0	0	T	209113112	C	T	209113112	3	4	199	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-FG-7641-01B-11D-2253-08	56886507	209113112	34086261	4	24936											
EPHA4	2043	broad.mit.edu	37	2	222321395	222321395	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-7641-01B-11D-2253-08	TCGA-FG-7641-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	739e3612-208f-4004-a714-d0839f9b5e24	4e9b5d71-7edb-4c2f-b79f-eed7aff5a455	g.chr2:222321395C>T	ENST00000281821.2	-	7	1582	c.1541G>A	c.(1540-1542)cGa>cAa	p.R514Q	EPHA4_ENST00000409854.1_Missense_Mutation_p.R514Q|EPHA4_ENST00000392071.4_Missense_Mutation_p.R463Q|EPHA4_ENST00000409938.1_Missense_Mutation_p.R514Q	NM_004438.3	NP_004429.1	P54764	EPHA4_HUMAN	EPH receptor A4	514	Fibronectin type-III 2.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		TGTCCTGGCTCGCACGTGGAA	0.512													13	92					0	0	1	0	0	T	222321395	C	T	222321395	3	4	199	1	0	0	0	0	1	0	0	0	5197	884	31	1	1463	1	EPHA4	2	222321395	Missense_Mutation	SNP	C	TCGA-FG-7641-01B-11D-2253-08	13208283	222321395	20877978	5	24937											
HYAL3	8372	broad.mit.edu	37	3	50332974	50332974	+	Silent	SNP	G	G	A			TCGA-FG-7641-01B-11D-2253-08	TCGA-FG-7641-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	739e3612-208f-4004-a714-d0839f9b5e24	4e9b5d71-7edb-4c2f-b79f-eed7aff5a455	g.chr3:50332974G>A	ENST00000336307.1	-	2	332	c.60C>T	c.(58-60)ggC>ggT	p.G20G	HYAL3_ENST00000450982.1_Silent_p.G20G|HYAL3_ENST00000359051.3_Silent_p.G20G|HYAL3_ENST00000513170.1_Intron|HYAL3_ENST00000415204.1_Intron	NM_001200029.1|NM_003549.3	NP_001186958.1|NP_003540.2	O43820	HYAL3_HUMAN	hyaluronoglucosaminidase 3	20					carbohydrate metabolic process	extracellular region|lysosome	hyalurononglucosaminidase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|lung(5)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		GTAGGGGCTGGCCACAACCCA	0.627													3	33					0	0	1	0	0	A	50332974	G	A	50332974	2	1	199	1	0	0	0	0	0	0	0	1	7509	1190	42	2		2	HYAL3	3	50332974	Silent	SNP	G	TCGA-FG-7641-01B-11D-2253-08		50332974	147689456	6	24938											
ALDH1L1	10840	broad.mit.edu	37	3	125831636	125831636	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-7641-01B-11D-2253-08	TCGA-FG-7641-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	739e3612-208f-4004-a714-d0839f9b5e24	4e9b5d71-7edb-4c2f-b79f-eed7aff5a455	g.chr3:125831636C>T	ENST00000393434.2	-	19	2519	c.2170G>A	c.(2170-2172)Gtg>Atg	p.V724M	ALDH1L1_ENST00000472186.1_Missense_Mutation_p.V724M|ALDH1L1_ENST00000393431.2_3'UTR|ALDH1L1_ENST00000452905.2_Missense_Mutation_p.V623M|ALDH1L1_ENST00000273450.3_Missense_Mutation_p.V734M	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	724	Aldehyde dehydrogenase.				10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	ACTCTCCGCACGAACTCATCA	0.577													9	126					0	0	1	0	0	T	125831636	C	T	125831636	3	4	199	1	0	0	0	0	1	0	0	0	491	536	19	1	558	1	ALDH1L1	3	125831636	Missense_Mutation	SNP	C	TCGA-FG-7641-01B-11D-2253-08	75498662	125831636	72190794	7	24939											
SRPRB	58477	broad.mit.edu	37	3	133524790	133524790	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-7641-01B-11D-2253-08	TCGA-FG-7641-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	739e3612-208f-4004-a714-d0839f9b5e24	4e9b5d71-7edb-4c2f-b79f-eed7aff5a455	g.chr3:133524790C>T	ENST00000466490.2	+	2	383	c.98C>T	c.(97-99)aCg>aTg	p.T33M		NM_021203.3	NP_067026.3	Q9Y5M8	SRPRB_HUMAN	signal recognition particle receptor, B subunit	33						endoplasmic reticulum membrane|integral to membrane	GTP binding|protein binding|receptor activity			breast(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|urinary_tract(2)	12						CTGCAGCAGACGGACCCAACG	0.672													5	103					0	0	1	0	0	T	133524790	C	T	133524790	3	4	199	1	0	0	0	0	1	0	0	0	15219	536	19	1	100	1	SRPRB	3	133524790	Missense_Mutation	SNP	C	TCGA-FG-7641-01B-11D-2253-08	7693154	133524790	64497640	8	24940											
HTRA3	94031	broad.mit.edu	37	4	8293208	8293208	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-7641-01B-11D-2253-08	TCGA-FG-7641-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	739e3612-208f-4004-a714-d0839f9b5e24	4e9b5d71-7edb-4c2f-b79f-eed7aff5a455	g.chr4:8293208G>A	ENST00000307358.2	+	4	1024	c.820G>A	c.(820-822)Gtc>Atc	p.V274I	HTRA3_ENST00000382512.3_Missense_Mutation_p.V274I	NM_053044.3	NP_444272.1	P83110	HTRA3_HUMAN	HtrA serine peptidase 3	274	Serine protease.				proteolysis|regulation of cell growth	extracellular region	insulin-like growth factor binding|serine-type endopeptidase activity			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|prostate(1)|urinary_tract(1)	18						AACGGGCATCGTCAGCACTGC	0.632													24	44					0	0	1	0	0	A	8293208	G	A	8293208	3	1	199	1	0	0	0	0	1	0	0	0	7499	1145	40	1	834	1	HTRA3	4	8293208	Missense_Mutation	SNP	G	TCGA-FG-7641-01B-11D-2253-08		8293208	182861068	9	24941											
FRAS1	80144	broad.mit.edu	37	4	79421075	79421075	+	Splice_Site	SNP	G	G	A			TCGA-FG-7641-01B-11D-2253-08	TCGA-FG-7641-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	739e3612-208f-4004-a714-d0839f9b5e24	4e9b5d71-7edb-4c2f-b79f-eed7aff5a455	g.chr4:79421075G>A	ENST00000264895.6	+	61	9756	c.9316G>A	c.(9316-9318)Ggt>Agt	p.G3106S		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	3101	Calx-beta 5.				cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						GTTCAGTCCCGGTAATTGAAT	0.443													18	177					0	0	1	0	0	A	79421075	G	A	79421075	5	1	199	1	0	0	0	0	0	0	1	0	6076	1130	39	1	9633	1	FRAS1	4	79421075	Splice_Site	SNP	G	TCGA-FG-7641-01B-11D-2253-08	71127867	79421075	111733201	10	24942											
DNAH5	1767	broad.mit.edu	37	5	13766101	13766101	+	Missense_Mutation	SNP	A	A	G			TCGA-FG-7641-01B-11D-2253-08	TCGA-FG-7641-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	739e3612-208f-4004-a714-d0839f9b5e24	4e9b5d71-7edb-4c2f-b79f-eed7aff5a455	g.chr5:13766101A>G	ENST00000265104.4	-	59	10189	c.10085T>C	c.(10084-10086)tTt>tCt	p.F3362S	DNAH5_ENST00000504001.3_Intron	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3362	Stalk (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GTTCTGTAAAAAGTTCCCTGC	0.413									Kartagener syndrome				65	97					0	0	1	0	0	G	13766101	A	G	13766101	3	3	199	1	0	0	0	0	1	0	0	0	4632	14	1	3	3873	3	DNAH5	5	13766101	Missense_Mutation	SNP	A	TCGA-FG-7641-01B-11D-2253-08		13766101	167149159	11	24943											
VCAN	1462	broad.mit.edu	37	5	82849281	82849281	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-7641-01B-11D-2253-08	TCGA-FG-7641-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	739e3612-208f-4004-a714-d0839f9b5e24	4e9b5d71-7edb-4c2f-b79f-eed7aff5a455	g.chr5:82849281C>T	ENST00000265077.3	+	11	10157	c.9592C>T	c.(9592-9594)Cgt>Tgt	p.R3198C	VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000502527.2_Missense_Mutation_p.R457C|VCAN_ENST00000512590.2_Missense_Mutation_p.R1396C|VCAN_ENST00000343200.5_Missense_Mutation_p.R2211C|VCAN_ENST00000342785.4_Missense_Mutation_p.R1444C|VCAN-AS1_ENST00000513899.1_RNA|VCAN_ENST00000513016.1_3'UTR	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	3198	C-type lectin.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding	p.R3198S(1)		NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		ACGGGAATGCCGTCTGCAGGG	0.473													62	156					0	0	1	0	0	T	82849281	C	T	82849281	3	4	199	1	0	0	0	0	1	0	0	0	17198	652	23	1	9630	1	VCAN	5	82849281	Missense_Mutation	SNP	C	TCGA-FG-7641-01B-11D-2253-08	69083180	82849281	98065979	12	24944											
C5orf20	140947	broad.mit.edu	37	5	134782790	134782790	+	Silent	SNP	G	G	A	rs113239442		TCGA-FG-7641-01B-11D-2253-08	TCGA-FG-7641-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	739e3612-208f-4004-a714-d0839f9b5e24	4e9b5d71-7edb-4c2f-b79f-eed7aff5a455	g.chr5:134782790G>A	ENST00000503143.2	-	1	248	c.9C>T	c.(7-9)taC>taT	p.Y3Y	TIFAB_ENST00000537858.1_3'UTR	NM_130848.2	NP_570900.1	Q8TF63	DCNP1_HUMAN	chromosome 5 open reading frame 20	3						nucleus				endometrium(1)|lung(1)|prostate(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TTGCTGCTCCGTAATGCATAG	0.527													5	46					0	0	1	0	0	A	134782790	G	A	134782790	2	1	199	1	0	0	0	0	0	0	0	1	2299	1140	40	1		1	C5orf20	5	134782790	Silent	SNP	G	TCGA-FG-7641-01B-11D-2253-08	51933509	134782790	46132470	13	24945											
PCDHB5	26167	broad.mit.edu	37	5	140516689	140516689	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-7641-01B-11D-2253-08	TCGA-FG-7641-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	739e3612-208f-4004-a714-d0839f9b5e24	4e9b5d71-7edb-4c2f-b79f-eed7aff5a455	g.chr5:140516689C>T	ENST00000231134.5	+	1	1890	c.1673C>T	c.(1672-1674)cCc>cTc	p.P558L		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN		558	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GACAACTCGCCCTTCGTGCTG	0.716													8	34					0	0	1	0	0	T	140516689	C	T	140516689	3	4	199	1	0	0	0	0	1	0	0	0	11592	623	22	2	1675	2	PCDHB5	5	140516689	Missense_Mutation	SNP	C	TCGA-FG-7641-01B-11D-2253-08	5733899	140516689	40398571	14	24946											
MAS1L	116511	broad.mit.edu	37	6	29454624	29454624	+	Silent	SNP	G	G	A	rs148359929	byFrequency	TCGA-FG-7641-01B-11D-2253-08	TCGA-FG-7641-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	739e3612-208f-4004-a714-d0839f9b5e24	4e9b5d71-7edb-4c2f-b79f-eed7aff5a455	g.chr6:29454624G>A	ENST00000377127.3	-	1	1114	c.1056C>T	c.(1054-1056)atC>atT	p.I352I		NM_052967.1	NP_443199.1	P35410	MAS1L_HUMAN	MAS1 oncogene-like	352						cytoplasm|integral to membrane|nucleus|plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(7)|pancreas(1)|prostate(2)|skin(2)	28						CCATTGGGTCGATGCCAGCTG	0.517													87	121					0	0	1	0	0	A	29454624	G	A	29454624	2	1	199	1	0	0	0	0	0	0	0	1	9371	1048	37	1		1	MAS1L	6	29454624	Silent	SNP	G	TCGA-FG-7641-01B-11D-2253-08		29454624	141660443	15	24947											
RHAG	6005	broad.mit.edu	37	6	49583402	49583402	+	Missense_Mutation	SNP	G	G	T			TCGA-FG-7641-01B-11D-2253-08	TCGA-FG-7641-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	739e3612-208f-4004-a714-d0839f9b5e24	4e9b5d71-7edb-4c2f-b79f-eed7aff5a455	g.chr6:49583402G>T	ENST00000371175.4	-	4	601	c.575C>A	c.(574-576)tCt>tAt	p.S192Y	RHAG_ENST00000229810.7_Missense_Mutation_p.S192Y	NM_000324.2	NP_000315.2	Q02094	RHAG_HUMAN	Rh-associated glycoprotein	192					carbon dioxide transport|cellular ion homeostasis	integral to plasma membrane	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding			NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	39	Lung NSC(77;0.0255)					TCTCAGTCCAGATCGATACAA	0.453													48	79					2.74695e-27	2.84869e-27	1	1	0	T	49583402	G	T	49583402	3	4	199	1	0	0	0	0	1	0	0	0	13365	942	33	4	682	4	RHAG	6	49583402	Missense_Mutation	SNP	G	TCGA-FG-7641-01B-11D-2253-08	20128778	49583402	121531665	16	24948											
GSTA3	2940	broad.mit.edu	37	6	52767170	52767170	+	Silent	SNP	G	G	A	rs147033582		TCGA-FG-7641-01B-11D-2253-08	TCGA-FG-7641-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	739e3612-208f-4004-a714-d0839f9b5e24	4e9b5d71-7edb-4c2f-b79f-eed7aff5a455	g.chr6:52767170G>A	ENST00000211122.3	-	4	311	c.246C>T	c.(244-246)taC>taT	p.Y82Y	GSTA3_ENST00000370968.1_Silent_p.Y32Y	NM_000847.4	NP_000838.3	Q16772	GSTA3_HUMAN	glutathione S-transferase alpha 3	82	GST N-terminal.				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity			cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(2)	10	Lung NSC(77;0.0912)				Glutathione(DB00143)	TGTCTTTCCCGTAGAGGTTGT	0.448													11	322					0	0	1	0	0	A	52767170	G	A	52767170	2	1	199	1	0	0	0	0	0	0	0	1	6873	1140	40	1		1	GSTA3	6	52767170	Silent	SNP	G	TCGA-FG-7641-01B-11D-2253-08	3183768	52767170	118347897	17	24949											
TTK	7272	broad.mit.edu	37	6	80749925	80749925	+	Missense_Mutation	SNP	A	A	G			TCGA-FG-7641-01B-11D-2253-08	TCGA-FG-7641-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	739e3612-208f-4004-a714-d0839f9b5e24	4e9b5d71-7edb-4c2f-b79f-eed7aff5a455	g.chr6:80749925A>G	ENST00000509894.1	+	20	3146	c.2317A>G	c.(2317-2319)Agg>Ggg	p.R773G	TTK_ENST00000230510.3_Missense_Mutation_p.R773G|TTK_ENST00000369798.2_Missense_Mutation_p.R774G			P33981	TTK_HUMAN	TTK protein kinase	774	Protein kinase.				mitotic cell cycle spindle assembly checkpoint|mitotic spindle organization|positive regulation of cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation	spindle	ATP binding|identical protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1)	53		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)		BRCA - Breast invasive adenocarcinoma(397;0.0321)		TTGTTTAAAAAGGGACCCAAA	0.284													3	78					0	0	1	0	0	G	80749925	A	G	80749925	3	3	199	1	0	0	0	0	1	0	0	0	16782	63	3	3	2394	3	TTK	6	80749925	Missense_Mutation	SNP	A	TCGA-FG-7641-01B-11D-2253-08	27982755	80749925	90365142	18	24950											
IL20RA	53832	broad.mit.edu	37	6	137322781	137322781	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-7641-01B-11D-2253-08	TCGA-FG-7641-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	739e3612-208f-4004-a714-d0839f9b5e24	4e9b5d71-7edb-4c2f-b79f-eed7aff5a455	g.chr6:137322781C>T	ENST00000367748.1	-	6	1829	c.1243G>A	c.(1243-1245)Gct>Act	p.A415T	IL20RA_ENST00000541547.1_Missense_Mutation_p.A477T|IL20RA_ENST00000316649.5_Missense_Mutation_p.A526T	NM_001278723.1	NP_001265652.1	Q9UHF4	I20RA_HUMAN	interleukin 20 receptor, alpha	526						integral to membrane	receptor activity			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000351)|OV - Ovarian serous cystadenocarcinoma(155;0.00459)		CTGTCTGGAGCCGGCTCCTCA	0.527													5	193					0	0	1	0	0	T	137322781	C	T	137322781	3	4	199	1	0	0	0	0	1	0	0	0	7712	739	26	2	89	2	IL20RA	6	137322781	Missense_Mutation	SNP	C	TCGA-FG-7641-01B-11D-2253-08	56572856	137322781	33792286	19	24951											
PARP12	64761	broad.mit.edu	37	7	139734111	139734111	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-7641-01B-11D-2253-08	TCGA-FG-7641-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	739e3612-208f-4004-a714-d0839f9b5e24	4e9b5d71-7edb-4c2f-b79f-eed7aff5a455	g.chr7:139734111C>T	ENST00000263549.3	-	8	2218	c.1345G>A	c.(1345-1347)Gtc>Atc	p.V449I	PARP12_ENST00000470515.1_5'UTR	NM_022750.2	NP_073587.1	Q9H0J9	PAR12_HUMAN	poly (ADP-ribose) polymerase family, member 12	449	WWE 2.			VQKNLVY -> MGGFGQH (in Ref. 4).		nucleus	NAD+ ADP-ribosyltransferase activity|nucleic acid binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	19	Melanoma(164;0.0142)					GTGCCATAGACCAGGTTTTTC	0.418													12	27					0	0	1	0	0	T	139734111	C	T	139734111	3	4	199	1	0	0	0	0	1	0	0	0	11504	507	18	2	780	2	PARP12	7	139734111	Missense_Mutation	SNP	C	TCGA-FG-7641-01B-11D-2253-08		139734111	19404552	20	24952											
MCPH1	79648	broad.mit.edu	37	8	6479212	6479212	+	Splice_Site	SNP	G	G	A			TCGA-FG-7641-01B-11D-2253-08	TCGA-FG-7641-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	739e3612-208f-4004-a714-d0839f9b5e24	4e9b5d71-7edb-4c2f-b79f-eed7aff5a455	g.chr8:6479212G>A	ENST00000344683.5	+	13	2528	c.2452G>A	c.(2452-2454)Gat>Aat	p.D818N	MCPH1_ENST00000521175.1_3'UTR|CTD-2541M15.1_ENST00000515608.1_RNA|CTD-2541M15.1_ENST00000522897.1_RNA	NM_024596.3	NP_078872	Q8NEM0	MCPH1_HUMAN	microcephalin 1	818	BRCT 3.					microtubule organizing center			AGPAT5/MCPH1(2)	central_nervous_system(1)|large_intestine(4)|skin(1)	6		Hepatocellular(245;0.0663)		Colorectal(4;0.0505)		ATGGGTCTTAGGTAAGAATCC	0.597													11	122					0	0	1	0	0	A	6479212	G	A	6479212	5	1	199	1	0	0	0	0	0	0	1	0	9448	1014	35	2	2510	2	MCPH1	8	6479212	Splice_Site	SNP	G	TCGA-FG-7641-01B-11D-2253-08		6479212	139884810	21	24953											
KCNB2	9312	broad.mit.edu	37	8	73480147	73480147	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-7641-01B-11D-2253-08	TCGA-FG-7641-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	739e3612-208f-4004-a714-d0839f9b5e24	4e9b5d71-7edb-4c2f-b79f-eed7aff5a455	g.chr8:73480147C>T	ENST00000523207.1	+	2	766	c.178C>T	c.(178-180)Cgc>Tgc	p.R60C		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	60					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)			GCCCAGGACGCGCCTGGGGAA	0.542													12	109					0	0	1	0	0	T	73480147	C	T	73480147	3	4	199	1	0	0	0	0	1	0	0	0	8057	768	27	1	180	1	KCNB2	8	73480147	Missense_Mutation	SNP	C	TCGA-FG-7641-01B-11D-2253-08	67000935	73480147	72883875	22	24954											
PTER	9317	broad.mit.edu	37	10	16526578	16526578	+	Silent	SNP	T	T	C			TCGA-FG-7641-01B-11D-2253-08	TCGA-FG-7641-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	739e3612-208f-4004-a714-d0839f9b5e24	4e9b5d71-7edb-4c2f-b79f-eed7aff5a455	g.chr10:16526578T>C	ENST00000378000.1	+	3	441	c.195T>C	c.(193-195)taT>taC	p.Y65Y	PTER_ENST00000535784.2_Silent_p.Y65Y|PTER_ENST00000298942.3_Silent_p.Y65Y|PTER_ENST00000423462.2_Silent_p.Y65Y	NM_001001484.2|NM_001261838.1|NM_030664.4	NP_001001484.1|NP_001248767.1|NP_109589.2	Q96BW5	PTER_HUMAN	phosphotriesterase related	65					catabolic process		hydrolase activity, acting on ester bonds|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)	15						AAAACGCCTATTCCCATAAAG	0.403													4	83					0	0	1	0	0	C	16526578	T	C	16526578	2	2	199	1	0	0	0	0	0	0	0	1	12788	1500	52	3		3	PTER	10	16526578	Silent	SNP	T	TCGA-FG-7641-01B-11D-2253-08		16526578	119008169	23	24955											
UHRF1BP1L	23074	broad.mit.edu	37	12	100502164	100502164	+	Splice_Site	SNP	C	C	T			TCGA-FG-7641-01B-11D-2253-08	TCGA-FG-7641-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	739e3612-208f-4004-a714-d0839f9b5e24	4e9b5d71-7edb-4c2f-b79f-eed7aff5a455	g.chr12:100502164C>T	ENST00000279907.7	-	2	419	c.207G>A	c.(205-207)agG>agA	p.R69R	UHRF1BP1L_ENST00000356828.3_Splice_Site_p.R69R	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN	UHRF1 binding protein 1-like	69										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						AAAGTCTCACCCTAATGGACG	0.338													26	60					0	0	1	0	0	T	100502164	C	T	100502164	5	4	199	1	0	0	0	0	0	0	1	0	17029	637	22	2	4291	2	UHRF1BP1L	12	100502164	Splice_Site	SNP	C	TCGA-FG-7641-01B-11D-2253-08		100502164	33349731	24	24956											
PTPN11	5781	broad.mit.edu	37	12	112888139	112888139	+	Missense_Mutation	SNP	C	C	G			TCGA-FG-7641-01B-11D-2253-08	TCGA-FG-7641-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	739e3612-208f-4004-a714-d0839f9b5e24	4e9b5d71-7edb-4c2f-b79f-eed7aff5a455	g.chr12:112888139C>G	ENST00000351677.2	+	3	353	c.155C>G	c.(154-156)aCc>aGc	p.T52S	PTPN11_ENST00000392597.1_Missense_Mutation_p.T52S	NM_002834.3	NP_002825.3	Q06124	PTN11_HUMAN	protein tyrosine phosphatase, non-receptor type 11	52	SH2 1.				axon guidance|cell junction assembly|ephrin receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|platelet activation|regulation of cell adhesion mediated by integrin|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway	cytosol	non-membrane spanning protein tyrosine phosphatase activity|protein binding	p.T52S(2)		NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(406)|kidney(2)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(3)|stomach(3)	451						GGAGCTGTCACCCACATCAAG	0.433			Mis		"JMML, AML, MDS"		Noonan Syndrome		Noonan syndrome				50	80					0	0	1	0	0	G	112888139	C	G	112888139	3	3	199	1	0	0	0	0	1	0	0	0	12830	507	18	5	165	5	PTPN11	12	112888139	Missense_Mutation	SNP	C	TCGA-FG-7641-01B-11D-2253-08	12385975	112888139	20963756	25	24957											
SCARB1	949	broad.mit.edu	37	12	125263027	125263028	+	Frame_Shift_Ins	INS	-	-	G			TCGA-FG-7641-01B-11D-2253-08	TCGA-FG-7641-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	739e3612-208f-4004-a714-d0839f9b5e24	4e9b5d71-7edb-4c2f-b79f-eed7aff5a455	g.chr12:125263027_125263028insG	ENST00000339570.5	-	12	1702_1703	c.1506_1507insC	c.(1504-1509)cccagcfs	p.S503fs	SCARB1_ENST00000376788.1_3'UTR|SCARB1_ENST00000261693.6_3'UTR|SCARB1_ENST00000415380.2_3'UTR	NM_001082959.1	NP_001076428.1	Q8WTV0	SCRB1_HUMAN	scavenger receptor class B, member 1	0					adhesion to symbiont|cell adhesion|cholesterol efflux|cholesterol homeostasis|cholesterol import|detection of lipopolysaccharide|high-density lipoprotein particle clearance|high-density lipoprotein particle remodeling|lipopolysaccharide transport|lipoprotein metabolic process|positive regulation of cholesterol storage|positive regulation of endothelial cell migration|positive regulation of nitric-oxide synthase activity|recognition of apoptotic cell|reverse cholesterol transport|triglyceride homeostasis|wound healing	caveola	1-phosphatidylinositol binding|apolipoprotein A-I binding|high-density lipoprotein particle receptor activity|lipopolysaccharide receptor activity|low-density lipoprotein particle binding|phosphatidylserine binding|transporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|prostate(1)	17	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000116)|Epithelial(86;0.000415)|all cancers(50;0.00395)	Phosphatidylserine(DB00144)	GCTGTGGGGCTGGGGGGCTGTC	0.683													2	4	---	---	---	---						G	125263028	-	G	125263027	7	5	199	1	0	1	1	0	0	0	0	0	13934	1580	55	0	17	0	SCARB1	12	125263027	Frame_Shift_Ins	INS	-	TCGA-FG-7641-01B-11D-2253-08	12374888	125263027	8588868	26	24958											
RBM26	64062	broad.mit.edu	37	13	79945160	79945160	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-7641-01B-11D-2253-08	TCGA-FG-7641-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	739e3612-208f-4004-a714-d0839f9b5e24	4e9b5d71-7edb-4c2f-b79f-eed7aff5a455	g.chr13:79945160C>T	ENST00000438737.2	-	5	994	c.554G>A	c.(553-555)cGa>cAa	p.R185Q	RBM26_ENST00000267229.7_Missense_Mutation_p.R185Q|RBM26_ENST00000438724.1_Missense_Mutation_p.R185Q			Q5T8P6	RBM26_HUMAN	RNA binding motif protein 26	185	Arg-rich.				mRNA processing		nucleotide binding|protein binding|RNA binding|zinc ion binding			NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33		Acute lymphoblastic leukemia(28;0.0279)		GBM - Glioblastoma multiforme(99;0.0188)		ACTCCAACTTCGACTTCGACT	0.453													9	142					0	0	1	0	0	T	79945160	C	T	79945160	3	4	199	1	0	0	0	0	1	0	0	0	13178	884	31	1	2456	1	RBM26	13	79945160	Missense_Mutation	SNP	C	TCGA-FG-7641-01B-11D-2253-08		79945160	35224718	27	24959											
FAM179B	23116	broad.mit.edu	37	14	45542633	45542633	+	Missense_Mutation	SNP	A	A	G			TCGA-FG-7641-01B-11D-2253-08	TCGA-FG-7641-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	739e3612-208f-4004-a714-d0839f9b5e24	4e9b5d71-7edb-4c2f-b79f-eed7aff5a455	g.chr14:45542633A>G	ENST00000361462.2	+	20	5374	c.5191A>G	c.(5191-5193)Aca>Gca	p.T1731A	FAM179B_ENST00000361577.3_Missense_Mutation_p.T1678A|FAM179B_ENST00000382233.2_3'UTR			Q9Y4F4	F179B_HUMAN	family with sequence similarity 179, member B	1678							binding			endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						ACGAACAGCCACAGCTAAATT	0.418													3	103					0	0	1	0	0	G	45542633	A	G	45542633	3	3	199	1	0	0	0	0	1	0	0	0	5536	159	6	3	5106	3	FAM179B	14	45542633	Missense_Mutation	SNP	A	TCGA-FG-7641-01B-11D-2253-08		45542633	61806907	28	24960											
C15orf52	388115	broad.mit.edu	37	15	40631782	40631782	+	Frame_Shift_Del	DEL	C	C	-			TCGA-FG-7641-01B-11D-2253-08	TCGA-FG-7641-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	739e3612-208f-4004-a714-d0839f9b5e24	4e9b5d71-7edb-4c2f-b79f-eed7aff5a455	g.chr15:40631782delC	ENST00000559313.1	-	3	309	c.294delG	c.(292-294)gggfs	p.G98fs		NM_207380.2	NP_997263.2	Q6ZUT6	CO052_HUMAN	chromosome 15 open reading frame 52	98								p.M99fs*3(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	19		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.06e-06)|Colorectal(105;0.0107)|BRCA - Breast invasive adenocarcinoma(123;0.0505)|READ - Rectum adenocarcinoma(2;0.0649)|Lung(196;0.0781)|LUAD - Lung adenocarcinoma(183;0.0841)		TCACAGCCATCCCCCCCTGCT	0.647													10	267	---	---	---	---						-	40631782	C	-	40631782	7	5	199	1	0	1	0	1	0	0	0	0	1806	842	30	0	1346	0	C15orf52	15	40631782	Frame_Shift_Del	DEL	C	TCGA-FG-7641-01B-11D-2253-08		40631782	61899610	29	24961											
GRIN2A	2903	broad.mit.edu	37	16	9934822	9934822	+	Missense_Mutation	SNP	T	T	A			TCGA-FG-7641-01B-11D-2253-08	TCGA-FG-7641-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	739e3612-208f-4004-a714-d0839f9b5e24	4e9b5d71-7edb-4c2f-b79f-eed7aff5a455	g.chr16:9934822T>A	ENST00000396573.2	-	7	1777	c.1468A>T	c.(1468-1470)Aac>Tac	p.N490Y	GRIN2A_ENST00000330684.3_Missense_Mutation_p.N490Y|GRIN2A_ENST00000396575.2_Missense_Mutation_p.N490Y|GRIN2A_ENST00000562109.1_Missense_Mutation_p.N490Y|GRIN2A_ENST00000535259.1_Missense_Mutation_p.N333Y|GRIN2A_ENST00000404927.2_Missense_Mutation_p.N490Y	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	490					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	CACACATTGTTAACTTTCTTG	0.443													8	144					0	0	1	0	0	A	9934822	T	A	9934822	3	1	199	1	0	0	0	0	1	0	0	0	6820	1754	61	5	2958	5	GRIN2A	16	9934822	Missense_Mutation	SNP	T	TCGA-FG-7641-01B-11D-2253-08		9934822	80419931	30	24962											
CCDC113	29070	broad.mit.edu	37	16	58296338	58296338	+	Missense_Mutation	SNP	A	A	G			TCGA-FG-7641-01B-11D-2253-08	TCGA-FG-7641-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	739e3612-208f-4004-a714-d0839f9b5e24	4e9b5d71-7edb-4c2f-b79f-eed7aff5a455	g.chr16:58296338A>G	ENST00000219299.4	+	6	756	c.677A>G	c.(676-678)aAg>aGg	p.K226R	CCDC113_ENST00000443128.2_Missense_Mutation_p.K172R	NM_014157.3	NP_054876.2	Q9H0I3	CC113_HUMAN	coiled-coil domain containing 113	226						protein complex				large_intestine(4)|lung(6)|ovary(1)|urinary_tract(1)	12						CAGCAGTTGAAGATAGAGAAC	0.428													49	68					0	0	1	0	0	G	58296338	A	G	58296338	3	3	199	1	0	0	0	0	1	0	0	0	2768	72	3	3	699	3	CCDC113	16	58296338	Missense_Mutation	SNP	A	TCGA-FG-7641-01B-11D-2253-08	48361516	58296338	32058415	31	24963											
NUP88	4927	broad.mit.edu	37	17	5312118	5312118	+	Silent	SNP	T	T	A			TCGA-FG-7641-01B-11D-2253-08	TCGA-FG-7641-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	739e3612-208f-4004-a714-d0839f9b5e24	4e9b5d71-7edb-4c2f-b79f-eed7aff5a455	g.chr17:5312118T>A	ENST00000573584.1	-	5	1301	c.792A>T	c.(790-792)gcA>gcT	p.A264A		NM_002532.4	NP_002523.2	Q99567	NUP88_HUMAN	nucleoporin 88kDa	264					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	transporter activity			endometrium(4)|kidney(4)|large_intestine(4)|lung(3)	15						ACAGTGGGTATGCCACTACTT	0.448													26	82					0	0	1	0	0	A	5312118	T	A	5312118	2	1	199	1	0	0	0	0	0	0	0	1	10819	1451	51	4		4	NUP88	17	5312118	Silent	SNP	T	TCGA-FG-7641-01B-11D-2253-08		5312118	75883092	32	24964											
DNAH9	1770	broad.mit.edu	37	17	11671916	11671916	+	Silent	SNP	C	C	T			TCGA-FG-7641-01B-11D-2253-08	TCGA-FG-7641-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	739e3612-208f-4004-a714-d0839f9b5e24	4e9b5d71-7edb-4c2f-b79f-eed7aff5a455	g.chr17:11671916C>T	ENST00000262442.4	+	37	7385	c.7317C>T	c.(7315-7317)ttC>ttT	p.F2439F	DNAH9_ENST00000454412.2_Silent_p.F2439F	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9						cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TCCCCCAGTTCGAATTTGACC	0.542													5	117					0	0	1	0	0	T	11671916	C	T	11671916	2	4	199	1	0	0	0	0	0	0	0	1	4635	883	31	1		1	DNAH9	17	11671916	Silent	SNP	C	TCGA-FG-7641-01B-11D-2253-08	6359798	11671916	69523294	33	24965											
TEX14	56155	broad.mit.edu	37	17	56690826	56690826	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-7641-01B-11D-2253-08	TCGA-FG-7641-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	739e3612-208f-4004-a714-d0839f9b5e24	4e9b5d71-7edb-4c2f-b79f-eed7aff5a455	g.chr17:56690826C>T	ENST00000389934.3	-	9	1078	c.961G>A	c.(961-963)Gag>Aag	p.E321K	TEX14_ENST00000349033.5_Missense_Mutation_p.E321K|TEX14_ENST00000240361.8_Missense_Mutation_p.E327K	NM_001201457.1|NM_198393.3	NP_001188386.1|NP_938207.2	Q8IWB6	TEX14_HUMAN	testis expressed 14	327	Protein kinase.		K -> E (in a gastric adenocarcinoma sample; somatic mutation).			cytoplasm	ATP binding|protein kinase activity	p.E321K(1)		breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GTGATGCGCTCGTACACAAGG	0.502													8	148					0	0	1	0	0	T	56690826	C	T	56690826	3	4	199	1	0	0	0	0	1	0	0	0	15837	893	31	1	3614	1	TEX14	17	56690826	Missense_Mutation	SNP	C	TCGA-FG-7641-01B-11D-2253-08	45018910	56690826	24504384	34	24966											
CACNG5	27091	broad.mit.edu	37	17	64880891	64880891	+	Missense_Mutation	SNP	A	A	G			TCGA-FG-7641-01B-11D-2253-08	TCGA-FG-7641-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	739e3612-208f-4004-a714-d0839f9b5e24	4e9b5d71-7edb-4c2f-b79f-eed7aff5a455	g.chr17:64880891A>G	ENST00000169565.3	+	4	683	c.683A>G	c.(682-684)gAc>gGc	p.D228G	CACNG5_ENST00000307139.3_Intron|CACNG5_ENST00000533854.1_Intron			Q9UF02	CCG5_HUMAN	calcium channel, voltage-dependent, gamma subunit 5	0				SAGVMSVYLFMKRYTAEDMYRPHPGFYRPRLSNCSDYSGQF LHPDAWVRGRSPSDISSEASLQMNSNYPALLKCPDYDQMSS SPC -> VKPVTLSMDRLGLGTAPLSRGEWGWGRRDIPQPF WTPDHPLYFPSSSQNVSLSYLSGSPPARMSPGPCSCPHVHF PPHSSCVLCRPQPREMRQAPAASPSSAVFSL (in Ref. 1; AAF03089).	regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|postsynaptic density|postsynaptic membrane	voltage-gated calcium channel activity			NS(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	24			BRCA - Breast invasive adenocarcinoma(6;1.61e-08)			TGGACCCCGGACCACCCACTC	0.602													51	101					0	0	1	0	0	G	64880891	A	G	64880891	3	3	199	1	0	0	0	0	1	0	0	0	2578	275	10	3	697	3	CACNG5	17	64880891	Missense_Mutation	SNP	A	TCGA-FG-7641-01B-11D-2253-08	8190065	64880891	16314319	35	24967											
TMC6	11322	broad.mit.edu	37	17	76109646	76109646	+	Silent	SNP	C	C	T			TCGA-FG-7641-01B-11D-2253-08	TCGA-FG-7641-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	739e3612-208f-4004-a714-d0839f9b5e24	4e9b5d71-7edb-4c2f-b79f-eed7aff5a455	g.chr17:76109646C>T	ENST00000590602.1	-	19	2496	c.2337G>A	c.(2335-2337)gaG>gaA	p.E779E	TMC6_ENST00000306591.7_Silent_p.E428E|TMC6_ENST00000322933.4_Silent_p.E358E|TMC6_ENST00000592076.1_5'UTR|TMC6_ENST00000322914.3_Silent_p.E779E|TMC6_ENST00000392467.3_Silent_p.E779E|TMC6_ENST00000591436.1_Silent_p.E358E			Q7Z403	TMC6_HUMAN	transmembrane channel-like 6	779						endoplasmic reticulum membrane|integral to membrane				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	14			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			TCTCCTCCCTCTCCTTCCTCT	0.567													19	104					0	0	1	0	0	T	76109646	C	T	76109646	2	4	199	1	0	0	0	0	0	0	0	1	16049	912	32	2		2	TMC6	17	76109646	Silent	SNP	C	TCGA-FG-7641-01B-11D-2253-08	11228755	76109646	5085564	36	24968											
QTRT1	81890	broad.mit.edu	37	19	10823935	10823935	+	Missense_Mutation	SNP	A	A	T			TCGA-FG-7641-01B-11D-2253-08	TCGA-FG-7641-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	739e3612-208f-4004-a714-d0839f9b5e24	4e9b5d71-7edb-4c2f-b79f-eed7aff5a455	g.chr19:10823935A>T	ENST00000250237.5	+	10	1211	c.1201A>T	c.(1201-1203)Aca>Tca	p.T401S		NM_031209.2	NP_112486.1	Q9BXR0	TGT_HUMAN	queuine tRNA-ribosyltransferase 1	401					queuosine biosynthetic process	mitochondrion|nucleus|ribosome	metal ion binding|queuine tRNA-ribosyltransferase activity			large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	12			Epithelial(33;1.55e-05)|all cancers(31;3.42e-05)			TGTGGGAATCACACTGGGCTG	0.577													34	62					0	0	1	0	0	T	10823935	A	T	10823935	3	4	199	1	0	0	0	0	1	0	0	0	12937	159	6	5	1239	5	QTRT1	19	10823935	Missense_Mutation	SNP	A	TCGA-FG-7641-01B-11D-2253-08		10823935	48305048	37	24969											
CIC	23152	broad.mit.edu	37	19	42791728	42791728	+	Missense_Mutation	SNP	A	A	G			TCGA-FG-7641-01B-11D-2253-08	TCGA-FG-7641-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	739e3612-208f-4004-a714-d0839f9b5e24	4e9b5d71-7edb-4c2f-b79f-eed7aff5a455	g.chr19:42791728A>G	ENST00000572681.2	+	6	3409	c.3341A>G	c.(3340-3342)aAt>aGt	p.N1114S	CIC_ENST00000575354.2_Missense_Mutation_p.N205S|CIC_ENST00000160740.3_Missense_Mutation_p.N205S			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	205	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CGGCCCATGAATGCCTTCATG	0.627			"Mis, F, S"		oligodendroglioma								12	78					0	0	1	0	0	G	42791728	A	G	42791728	3	3	199	1	0	0	0	0	1	0	0	0	3446	101	4	3	632	3	CIC	19	42791728	Missense_Mutation	SNP	A	TCGA-FG-7641-01B-11D-2253-08	31967793	42791728	16337255	38	24970			1	21		3	3	7121	N	G_C_A	4.857727e-05
CIC	23152	broad.mit.edu	37	19	42791796	42791796	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-7641-01B-11D-2253-08	TCGA-FG-7641-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	739e3612-208f-4004-a714-d0839f9b5e24	4e9b5d71-7edb-4c2f-b79f-eed7aff5a455	g.chr19:42791796C>T	ENST00000572681.2	+	6	3477	c.3409C>T	c.(3409-3411)Cgg>Tgg	p.R1137W	CIC_ENST00000575354.2_Missense_Mutation_p.R228W|CIC_ENST00000160740.3_Missense_Mutation_p.R228W			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	228	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CCAGGACAACCGGACCGTCAG	0.622			"Mis, F, S"		oligodendroglioma								13	71					0	0	1	0	0	T	42791796	C	T	42791796	3	4	199	1	0	0	0	0	1	0	0	0	3446	643	23	1	700	1	CIC	19	42791796	Missense_Mutation	SNP	C	TCGA-FG-7641-01B-11D-2253-08	68	42791796	16337187	39	24971			1	21		3	3	7121	N	G_C_A	4.857727e-05
CIC	23152	broad.mit.edu	37	19	42798848	42798848	+	Missense_Mutation	SNP	G	G	C			TCGA-FG-7641-01B-11D-2253-08	TCGA-FG-7641-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	739e3612-208f-4004-a714-d0839f9b5e24	4e9b5d71-7edb-4c2f-b79f-eed7aff5a455	g.chr19:42798848G>C	ENST00000572681.2	+	20	7206	c.7138G>C	c.(7138-7140)Gtc>Ctc	p.V2380L	CIC_ENST00000575354.2_Missense_Mutation_p.V1474L|CIC_ENST00000160740.3_Missense_Mutation_p.V1472L			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	1474					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	p.V1474F(1)		autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CCGGGCCCTGGTCATGCAGCT	0.602			"Mis, F, S"		oligodendroglioma								5	61					0	0	1	0	0	C	42798848	G	C	42798848	3	2	199	1	0	0	0	0	1	0	0	0	3446	1261	44	5	4494	5	CIC	19	42798848	Missense_Mutation	SNP	G	TCGA-FG-7641-01B-11D-2253-08	7052	42798848	16330135	40	24972			1	21		3	3	7121	N	G_C_A	4.857727e-05
PVR	5817	broad.mit.edu	37	19	45162043	45162043	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-7641-01B-11D-2253-08	TCGA-FG-7641-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	739e3612-208f-4004-a714-d0839f9b5e24	4e9b5d71-7edb-4c2f-b79f-eed7aff5a455	g.chr19:45162043G>A	ENST00000425690.3	+	6	1324	c.1025G>A	c.(1024-1026)cGt>cAt	p.R342H	PVR_ENST00000344956.4_Intron|CTB-171A8.1_ENST00000590796.1_RNA|PVR_ENST00000406449.4_Missense_Mutation_p.R342H|PVR_ENST00000403059.4_Intron	NM_006505.3	NP_006496.3	P15151	PVR_HUMAN	poliovirus receptor	342					adherens junction organization|cell adhesion|cell junction assembly|interspecies interaction between organisms|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|susceptibility to natural killer cell mediated cytotoxicity|susceptibility to T cell mediated cytotoxicity	cell junction|cell surface|cytoplasm|extracellular space|integral to membrane|nucleus	cell adhesion molecule binding|receptor activity			large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	6	Lung NSC(12;0.00608)|all_lung(12;0.0148)	Medulloblastoma(540;0.0425)|Ovarian(192;0.0728)|Prostate(69;0.081)|all_neural(266;0.112)		Epithelial(262;0.000601)		GGCATATCCCGTAACGCCATC	0.468													3	81					0	0	1	0	0	A	45162043	G	A	45162043	3	1	199	1	0	0	0	0	1	0	0	0	12889	1145	40	1	1047	1	PVR	19	45162043	Missense_Mutation	SNP	G	TCGA-FG-7641-01B-11D-2253-08	2363195	45162043	13966940	41	24973											
ZBTB45	84878	broad.mit.edu	37	19	59028924	59028924	+	Missense_Mutation	SNP	A	A	C			TCGA-FG-7641-01B-11D-2253-08	TCGA-FG-7641-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	739e3612-208f-4004-a714-d0839f9b5e24	4e9b5d71-7edb-4c2f-b79f-eed7aff5a455	g.chr19:59028924A>C	ENST00000594051.1	-	2	597	c.117T>G	c.(115-117)atT>atG	p.I39M	ZBTB45_ENST00000354590.3_Missense_Mutation_p.I39M|ZBTB45_ENST00000600990.1_Missense_Mutation_p.I39M			Q96K62	ZBT45_HUMAN	zinc finger and BTB domain containing 45	39	BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|lung(5)|urinary_tract(1)	11		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0165)|Lung(386;0.18)		AAGCTTCACGAATGCGCACAG	0.602											OREG0025700	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	43					0	0	1	0	0	C	59028924	A	C	59028924	3	2	199	1	0	0	0	0	1	0	0	0	17605	242	9	5	1426	5	ZBTB45	19	59028924	Missense_Mutation	SNP	A	TCGA-FG-7641-01B-11D-2253-08	13866881	59028924	100059	42	24974											
CRYBB2	1415	broad.mit.edu	37	22	25625545	25625545	+	Splice_Site	SNP	C	C	T	rs4049504		TCGA-FG-7641-01B-11D-2253-08	TCGA-FG-7641-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	739e3612-208f-4004-a714-d0839f9b5e24	4e9b5d71-7edb-4c2f-b79f-eed7aff5a455	g.chr22:25625545C>T	ENST00000398215.2	+	5	620	c.449C>T	c.(448-450)aCg>aTg	p.T150M		NM_000496.2	NP_000487.1	P43320	CRBB2_HUMAN	crystallin, beta B2	150	Beta/gamma crystallin 'Greek key' 4.				response to stimulus|visual perception		structural constituent of eye lens			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)	10						CAGAGTGGCACGTAAGTGCGT	0.572													10	42					0	0	1	0	0	T	25625545	C	T	25625545	5	4	199	1	0	0	0	0	0	0	1	0	3934	550	19	1	463	1	CRYBB2	22	25625545	Splice_Site	SNP	C	TCGA-FG-7641-01B-11D-2253-08		25625545	25679021	43	24975											
ACTL8	81569	broad.mit.edu	37	1	18152414	18152414	+	Silent	SNP	C	C	T	rs114899155	byFrequency	TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr1:18152414C>T	ENST00000375406.1	+	3	717	c.501C>T	c.(499-501)ccC>ccT	p.P167P		NM_030812.2	NP_110439.2	Q9H568	ACTL8_HUMAN	actin-like 8	167						cytoplasm|cytoskeleton				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	28		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00186)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;6.43e-06)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.00652)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)		GCCCCTTGCCCGCCAGCGGCA	0.607											OREG0013157	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	40					0	0	1	0	0	T	18152414	C	T	18152414	2	4	200	1	0	0	0	0	0	0	0	1	202	639	23	1		1	ACTL8	1	18152414	Silent	SNP	C	TCGA-FG-7643-01A-11D-2086-08		18152414	231098207	1	24976											
EIF4G3	8672	broad.mit.edu	37	1	21268144	21268144	+	Silent	SNP	G	G	A			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr1:21268144G>A	ENST00000602326.1	-	12	1936	c.1353C>T	c.(1351-1353)gcC>gcT	p.A451A	EIF4G3_ENST00000400422.1_Silent_p.A445A|EIF4G3_ENST00000264211.8_Silent_p.A445A|EIF4G3_ENST00000356916.3_Silent_p.A456A|EIF4G3_ENST00000536266.1_Silent_p.A49A|EIF4G3_ENST00000374927.4_Silent_p.A445A|EIF4G3_ENST00000374935.3_Intron|EIF4G3_ENST00000374937.3_Silent_p.A451A	NM_001198802.1	NP_001185731.1	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	445					interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|RNA cap binding|translation initiation factor activity			endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		GGACTGTGATGGCAGCACTCG	0.488													11	201					0	0	1	0	0	A	21268144	G	A	21268144	2	1	200	1	0	0	0	0	0	0	0	1	5066	1335	47	2		2	EIF4G3	1	21268144	Silent	SNP	G	TCGA-FG-7643-01A-11D-2086-08	3115730	21268144	227982477	2	24977											
CDC20	991	broad.mit.edu	37	1	43826262	43826262	+	Silent	SNP	C	C	A			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr1:43826262C>A	ENST00000372462.1	+	6	1049	c.846C>A	c.(844-846)tcC>tcA	p.S282S	CDC20_ENST00000310955.6_Silent_p.S282S|CDC20_ENST00000478882.1_3'UTR			Q12834	CDC20_HUMAN	cell division cycle 20	282					activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of synapse maturation|positive regulation of synaptic plasticity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle	cytosol|nucleoplasm|spindle	enzyme binding|protein C-terminus binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	15	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				ATATCCTGTCCAGGTCAGTGG	0.512													6	108					2.7689e-08	3.03977e-08	1	1	0	A	43826262	C	A	43826262	2	1	200	1	0	0	0	0	0	0	0	1	3081	581	21	5		5	CDC20	1	43826262	Silent	SNP	C	TCGA-FG-7643-01A-11D-2086-08	22558118	43826262	205424359	3	24978											
PI4KB	5298	broad.mit.edu	37	1	151265427	151265428	+	Frame_Shift_Ins	INS	-	-	T			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr1:151265427_151265428insT	ENST00000368875.2	-	13	2967_2968	c.2387_2388insA	c.(2386-2388)cagfs	p.Q796fs	PI4KB_ENST00000271657.5_Frame_Shift_Ins_p.Q796fs|PI4KB_ENST00000368874.4_Frame_Shift_Ins_p.Q769fs|PI4KB_ENST00000529142.1_Frame_Shift_Ins_p.Q452fs|PI4KB_ENST00000368873.1_Frame_Shift_Ins_p.Q784fs|PI4KB_ENST00000368872.1_Frame_Shift_Ins_p.Q769fs	NM_002651.2	NP_002642.1	Q9UBF8	PI4KB_HUMAN	phosphatidylinositol 4-kinase, catalytic, beta	784				S -> G (in Ref. 4; BAG57793).	phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|receptor-mediated endocytosis	endosome|Golgi apparatus|mitochondrial outer membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum membrane	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			breast(3)|endometrium(5)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GCAGCTGCAGCTGCTCCTCAGT	0.55													19	76	---	---	---	---						T	151265428	-	T	151265427	7	5	200	1	0	1	1	0	0	0	0	0	11922	796	28	0	102	0	PI4KB	1	151265427	Frame_Shift_Ins	INS	-	TCGA-FG-7643-01A-11D-2086-08	107439165	151265427	97985194	4	24979											
CCDC19	25790	broad.mit.edu	37	1	159842876	159842876	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr1:159842876G>A	ENST00000426543.2	-	11	1635	c.1180C>T	c.(1180-1182)Cgg>Tgg	p.R394W	CCDC19_ENST00000368099.4_Missense_Mutation_p.R479W|CCDC19_ENST00000476696.1_5'UTR			Q9UL16	CCD19_HUMAN	coiled-coil domain containing 19	479						mitochondrion|soluble fraction				endometrium(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	26	all_hematologic(112;0.0597)		BRCA - Breast invasive adenocarcinoma(70;0.151)			ACCTGGCGCCGGAGCTCATTG	0.612													18	68					0	0	1	0	0	A	159842876	G	A	159842876	3	1	200	1	0	0	0	0	1	0	0	0	2814	1115	39	1	228	1	CCDC19	1	159842876	Missense_Mutation	SNP	G	TCGA-FG-7643-01A-11D-2086-08	8577449	159842876	89407745	5	24980											
ATP1A2	477	broad.mit.edu	37	1	160098496	160098496	+	Missense_Mutation	SNP	A	A	G			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr1:160098496A>G	ENST00000361216.3	+	9	1161	c.1072A>G	c.(1072-1074)Aac>Gac	p.N358D	ATP1A2_ENST00000392233.3_Missense_Mutation_p.N358D	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	358					ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			CCTGGTGAAGAACCTGGAGGC	0.587													4	131					0	0	1	0	0	G	160098496	A	G	160098496	3	3	200	1	0	0	0	0	1	0	0	0	1128	246	9	3	1106	3	ATP1A2	1	160098496	Missense_Mutation	SNP	A	TCGA-FG-7643-01A-11D-2086-08	255620	160098496	89152125	6	24981											
HMCN1	83872	broad.mit.edu	37	1	185947027	185947027	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr1:185947027G>A	ENST00000271588.4	+	16	2709	c.2480G>A	c.(2479-2481)cGa>cAa	p.R827Q	HMCN1_ENST00000485744.1_3'UTR|HMCN1_ENST00000367492.2_Missense_Mutation_p.R827Q	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	827	Ig-like C2-type 5.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						ATCAAATGGCGAAGATTAGAC	0.378													13	91					0	0	1	0	0	A	185947027	G	A	185947027	3	1	200	1	0	0	0	0	1	0	0	0	7261	1058	37	1	2542	1	HMCN1	1	185947027	Missense_Mutation	SNP	G	TCGA-FG-7643-01A-11D-2086-08	25848531	185947027	63303594	7	24982											
CACNA1S	779	broad.mit.edu	37	1	201020210	201020210	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr1:201020210C>T	ENST00000362061.3	-	33	4241	c.4015G>A	c.(4015-4017)Gac>Aac	p.D1339N	CACNA1S_ENST00000367338.3_Missense_Mutation_p.D1320N	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	1339	Dihydropyridine binding (By similarity).				axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	GACTCTGGGTCACACAGCTTC	0.547													6	118					0	0	1	0	0	T	201020210	C	T	201020210	3	4	200	1	0	0	0	0	1	0	0	0	2565	826	29	2	1654	2	CACNA1S	1	201020210	Missense_Mutation	SNP	C	TCGA-FG-7643-01A-11D-2086-08	15073183	201020210	48230411	8	24983											
RYR2	6262	broad.mit.edu	37	1	237729947	237729947	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr1:237729947G>A	ENST00000366574.2	+	28	3612	c.3295G>A	c.(3295-3297)Gga>Aga	p.G1099R	RYR2_ENST00000542537.1_Missense_Mutation_p.G1083R|RYR2_ENST00000360064.6_Missense_Mutation_p.G1097R	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1099	4 X approximate repeats.|B30.2/SPRY 2.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AGTGAAGGCCGGACGGTGGTA	0.552													5	154					0	0	1	0	0	A	237729947	G	A	237729947	3	1	200	1	0	0	0	0	1	0	0	0	13821	1117	39	1	3405	1	RYR2	1	237729947	Missense_Mutation	SNP	G	TCGA-FG-7643-01A-11D-2086-08	36709737	237729947	11520674	9	24984											
TTN	7273	broad.mit.edu	37	2	179414390	179414390	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr2:179414390C>T	ENST00000589042.1	-	338	92283	c.92059G>A	c.(92059-92061)Ggc>Agc	p.G30687S	RP11-65L3.2_ENST00000603415.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G29046S|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G28119S|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G21747S|TTN_ENST00000460472.2_Missense_Mutation_p.G21622S|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G21814S|TTN-AS1_ENST00000586831.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	29046	Ig-like 138.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TATTCATTGCCGTTTATTAGT	0.408													5	84					0	0	1	0	0	T	179414390	C	T	179414390	3	4	200	1	0	0	0	0	1	0	0	0	16797	652	23	1	16020	1	TTN	2	179414390	Missense_Mutation	SNP	C	TCGA-FG-7643-01A-11D-2086-08		179414390	63784983	10	24985											
ZSWIM2	151112	broad.mit.edu	37	2	187698677	187698677	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr2:187698677C>T	ENST00000295131.2	-	6	863	c.824G>A	c.(823-825)cGt>cAt	p.R275H		NM_182521.2	NP_872327.2	Q8NEG5	ZSWM2_HUMAN	zinc finger, SWIM-type containing 2	275					apoptosis		zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			CTGTACCTCACGAAATGTAAA	0.363													13	60					0	0	1	0	0	T	187698677	C	T	187698677	3	4	200	1	0	0	0	0	1	0	0	0	18281	536	19	1	1093	1	ZSWIM2	2	187698677	Missense_Mutation	SNP	C	TCGA-FG-7643-01A-11D-2086-08	8284287	187698677	55500696	11	24986											
CXCR1	3577	broad.mit.edu	37	2	219029298	219029298	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr2:219029298C>T	ENST00000295683.2	-	2	757	c.637G>A	c.(637-639)Gtg>Atg	p.V213M		NM_000634.2	NP_000625.1	P25024	CXCR1_HUMAN	chemokine (C-X-C motif) receptor 1	213					dendritic cell chemotaxis|inflammatory response	integral to membrane|plasma membrane	interleukin-8 receptor activity	p.V213M(1)		endometrium(1)|large_intestine(2)|lung(7)|prostate(3)	13						AACAGCGGCACGATGAAGCCA	0.522													10	114					0	0	1	0	0	T	219029298	C	T	219029298	3	4	200	1	0	0	0	0	1	0	0	0	4113	536	19	1	419	1	CXCR1	2	219029298	Missense_Mutation	SNP	C	TCGA-FG-7643-01A-11D-2086-08	31330621	219029298	24170075	12	24987											
PCBP4	57060	broad.mit.edu	37	3	51993277	51993277	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr3:51993277G>A	ENST00000461554.1	-	11	999	c.668C>T	c.(667-669)gCg>gTg	p.A223V	PCBP4_ENST00000355852.2_Missense_Mutation_p.A223V|PCBP4_ENST00000471622.1_Missense_Mutation_p.A223V|PCBP4_ENST00000428823.2_Missense_Mutation_p.A180V|PCBP4_ENST00000395014.2_Missense_Mutation_p.A244V|PCBP4_ENST00000322099.7_Missense_Mutation_p.A223V|PCBP4_ENST00000484633.1_Missense_Mutation_p.A180V|PCBP4_ENST00000395013.3_Missense_Mutation_p.A63V	NM_001174100.1	NP_001167571.1	P57723	PCBP4_HUMAN	poly(rC) binding protein 4	223						cytoplasm|ribonucleoprotein complex	DNA binding|RNA binding			endometrium(2)|large_intestine(2)|lung(2)|prostate(1)|stomach(1)	8				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		AAAGGGGACCGCATGGCTTGA	0.637													3	50					0	0	1	0	0	A	51993277	G	A	51993277	3	1	200	1	0	0	0	0	1	0	0	0	11550	1087	38	1	559	1	PCBP4	3	51993277	Missense_Mutation	SNP	G	TCGA-FG-7643-01A-11D-2086-08		51993277	146029153	13	24988											
PDE12	201626	broad.mit.edu	37	3	57542756	57542757	+	Frame_Shift_Ins	INS	-	-	T			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr3:57542756_57542757insT	ENST00000311180.8	+	1	753_754	c.650_651insT	c.(649-654)tctcccfs	p.P218fs	PDE12_ENST00000487257.1_Frame_Shift_Ins_p.P218fs	NM_177966.5	NP_808881.3	Q6L8Q7	PDE12_HUMAN	phosphodiesterase 12	218							hydrolase activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(4)|lung(3)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20				KIRC - Kidney renal clear cell carcinoma(284;0.011)|Kidney(284;0.0127)		TCGTCATTGTCTCCCTCCTCAC	0.594													43	275	---	---	---	---						T	57542757	-	T	57542756	7	5	200	1	0	1	1	0	0	0	0	0	11679	913	32	0	652	0	PDE12	3	57542756	Frame_Shift_Ins	INS	-	TCGA-FG-7643-01A-11D-2086-08	5549479	57542756	140479674	14	24989											
C3orf14	57415	broad.mit.edu	37	3	62317051	62317051	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr3:62317051C>T	ENST00000494481.1	+	5	543	c.229C>T	c.(229-231)Cgg>Tgg	p.R77W	C3orf14_ENST00000232519.5_Missense_Mutation_p.R77W|PTPRG-AS1_ENST00000495542.1_RNA|C3orf14_ENST00000462069.1_Missense_Mutation_p.R77W|C3orf14_ENST00000542214.1_Missense_Mutation_p.R77W|PTPRG-AS1_ENST00000490916.1_RNA			Q9HBI5	CC014_HUMAN	chromosome 3 open reading frame 14	77								p.R77W(1)		central_nervous_system(1)|large_intestine(1)|lung(1)	3				BRCA - Breast invasive adenocarcinoma(55;0.00023)|KIRC - Kidney renal clear cell carcinoma(15;0.00877)|Kidney(15;0.0101)		CCCACTTCCACGGCCTGAGGT	0.388													17	102					0	0	1	0	0	T	62317051	C	T	62317051	3	4	200	1	0	0	0	0	1	0	0	0	2222	527	19	1	239	1	C3orf14	3	62317051	Missense_Mutation	SNP	C	TCGA-FG-7643-01A-11D-2086-08	4774295	62317051	135705379	15	24990											
EPHA6	285220	broad.mit.edu	37	3	97329663	97329663	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr3:97329663T>C	ENST00000389672.5	+	13	2577	c.2539T>C	c.(2539-2541)Tat>Cat	p.Y847H	EPHA6_ENST00000442602.2_Missense_Mutation_p.Y213H|EPHA6_ENST00000502694.1_Missense_Mutation_p.Y239H|EPHA6_ENST00000514100.1_Missense_Mutation_p.Y239H	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	752	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						TGTGGTGGAATATATGGAGAA	0.373													6	112					0	0	1	0	0	C	97329663	T	C	97329663	3	2	200	1	0	0	0	0	1	0	0	0	5199	1406	49	3	2657	3	EPHA6	3	97329663	Missense_Mutation	SNP	T	TCGA-FG-7643-01A-11D-2086-08	35012612	97329663	100692767	16	24991											
WDR1	9948	broad.mit.edu	37	4	10077032	10077032	+	Silent	SNP	G	G	A			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr4:10077032G>A	ENST00000382452.2	-	15	2073	c.1791C>T	c.(1789-1791)gcC>gcT	p.A597A	WDR1_ENST00000515743.1_5'UTR|WDR1_ENST00000382451.2_Silent_p.A457A|WDR1_ENST00000502702.1_Silent_p.A457A|WDR1_ENST00000499869.2_Silent_p.A597A	NM_017491.3	NP_059830.1	O75083	WDR1_HUMAN	WD repeat domain 1	597					platelet activation|platelet degranulation|sensory perception of sound	cytoskeleton|cytosol|extracellular region	actin binding			endometrium(3)|lung(5)|ovary(2)|pancreas(1)|urinary_tract(1)	12				STAD - Stomach adenocarcinoma(129;0.000703)|Colorectal(103;0.0057)|LUSC - Lung squamous cell carcinoma(721;0.0232)		CCTTGACAGAGGCATCATGGG	0.567													7	53					0	0	1	0	0	A	10077032	G	A	10077032	2	1	200	1	0	0	0	0	0	0	0	1	17332	987	35	2		2	WDR1	4	10077032	Silent	SNP	G	TCGA-FG-7643-01A-11D-2086-08		10077032	181077244	17	24992											
GABRG1	2565	broad.mit.edu	37	4	46060562	46060562	+	Silent	SNP	A	A	G			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr4:46060562A>G	ENST00000295452.4	-	6	870	c.703T>C	c.(703-705)Tta>Cta	p.L235L		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	235					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)		AACTGATATAATCTCCAGTAT	0.348													10	69					0	0	1	0	0	G	46060562	A	G	46060562	2	3	200	1	0	0	0	0	0	0	0	1	6206	98	4	3		3	GABRG1	4	46060562	Silent	SNP	A	TCGA-FG-7643-01A-11D-2086-08	35983530	46060562	145093714	18	24993											
POLR2B	5431	broad.mit.edu	37	4	57873149	57873149	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr4:57873149C>T	ENST00000381227.1	+	11	1798	c.1385C>T	c.(1384-1386)gCc>gTc	p.A462V	POLR2B_ENST00000431623.2_Missense_Mutation_p.A387V|POLR2B_ENST00000441246.2_Missense_Mutation_p.A455V|POLR2B_ENST00000314595.5_Missense_Mutation_p.A462V			P30876	RPB2_HUMAN	polymerase (RNA) II (DNA directed) polypeptide B, 140kDa	462					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1)	52	Glioma(25;0.08)|all_neural(26;0.181)					GCTCATCAAGCCAGAGCTGGA	0.378													10	58					0	0	1	0	0	T	57873149	C	T	57873149	3	4	200	1	0	0	0	0	1	0	0	0	12263	739	26	2	1423	2	POLR2B	4	57873149	Missense_Mutation	SNP	C	TCGA-FG-7643-01A-11D-2086-08	11812587	57873149	133281127	19	24994											
CCDC158	339965	broad.mit.edu	37	4	77255306	77255306	+	Silent	SNP	A	A	T			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr4:77255306A>T	ENST00000388914.3	-	18	2831	c.2679T>A	c.(2677-2679)gcT>gcA	p.A893A		NM_001042784.1	NP_001036249.1	Q5M9N0	CD158_HUMAN	coiled-coil domain containing 158	893										breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						TCAGTGTGTTAGCTTTTGTAG	0.393													5	69					0	0	1	0	0	T	77255306	A	T	77255306	2	4	200	1	0	0	0	0	0	0	0	1	2809	407	15	5		5	CCDC158	4	77255306	Silent	SNP	A	TCGA-FG-7643-01A-11D-2086-08	19382157	77255306	113898970	20	24995											
KLHL8	57563	broad.mit.edu	37	4	88091688	88091688	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr4:88091688C>T	ENST00000273963.5	-	7	1629	c.1288G>A	c.(1288-1290)Gtg>Atg	p.V430M	KLHL8_ENST00000498875.2_Missense_Mutation_p.V354M|KLHL8_ENST00000512111.1_Missense_Mutation_p.V430M|KLHL8_ENST00000545252.1_Missense_Mutation_p.V79M|KLHL8_ENST00000425278.2_Missense_Mutation_p.V247M	NM_020803.3	NP_065854.3	Q9P2G9	KLHL8_HUMAN	kelch-like family member 8	430										breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)	17		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000603)		TATCTCTCCACATCATTGAAG	0.428													10	128					0	0	1	0	0	T	88091688	C	T	88091688	3	4	200	1	0	0	0	0	1	0	0	0	8438	478	17	2	590	2	KLHL8	4	88091688	Missense_Mutation	SNP	C	TCGA-FG-7643-01A-11D-2086-08	10836382	88091688	103062588	21	24996											
TRIM60	166655	broad.mit.edu	37	4	165962517	165962517	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr4:165962517G>A	ENST00000512596.1	+	3	1509	c.1293G>A	c.(1291-1293)atG>atA	p.M431I	TRIM60_ENST00000508504.1_Missense_Mutation_p.M431I|TRIM60_ENST00000341062.5_Missense_Mutation_p.M431I	NM_152620.2	NP_689833.1	Q495X7	TRI60_HUMAN	tripartite motif containing 60	431	B30.2/SPRY.					intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	29	all_hematologic(180;0.221)	Prostate(90;0.0959)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.0844)		TTTATAATATGAATGATAGGT	0.373													6	89					0	0	1	0	0	A	165962517	G	A	165962517	3	1	200	1	0	0	0	0	1	0	0	0	16596	1290	45	2	1295	2	TRIM60	4	165962517	Missense_Mutation	SNP	G	TCGA-FG-7643-01A-11D-2086-08	77870829	165962517	25191759	22	24997											
ADCY2	108	broad.mit.edu	37	5	7520913	7520913	+	Silent	SNP	C	C	T			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr5:7520913C>T	ENST00000338316.4	+	3	560	c.471C>T	c.(469-471)gaC>gaT	p.D157D		NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	157					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding	p.D157D(1)		NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						ACATGCGAGACGCCATCATTG	0.547													6	87					0	0	1	0	0	T	7520913	C	T	7520913	2	4	200	1	0	0	0	0	0	0	0	1	293	535	19	1		1	ADCY2	5	7520913	Silent	SNP	C	TCGA-FG-7643-01A-11D-2086-08		7520913	173394347	23	24998											
C5orf42	65250	broad.mit.edu	37	5	37169185	37169185	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr5:37169185T>C	ENST00000274258.7	-	34	7168	c.3581A>G	c.(3580-3582)cAt>cGt	p.H1194R	C5orf42_ENST00000425232.2_Missense_Mutation_p.H2314R|C5orf42_ENST00000508244.1_Missense_Mutation_p.H2314R			E9PH94	E9PH94_HUMAN	chromosome 5 open reading frame 42	2314										breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			CAAGTTCACATGATTAGGAAT	0.373													11	92					0	0	1	0	0	C	37169185	T	C	37169185	3	2	200	1	0	0	0	0	1	0	0	0	2316	1464	51	3	2728	3	C5orf42	5	37169185	Missense_Mutation	SNP	T	TCGA-FG-7643-01A-11D-2086-08	29648272	37169185	143746075	24	24999											
C7	730	broad.mit.edu	37	5	40934551	40934551	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr5:40934551G>A	ENST00000313164.9	+	4	622	c.263G>A	c.(262-264)cGt>cAt	p.R88H		NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	88	LDL-receptor class A.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex							Ovarian(839;0.0112)				TGTGGAGAGCGTTTCAGGTGC	0.423													27	170					0	0	1	0	0	A	40934551	G	A	40934551	3	1	200	1	0	0	0	0	1	0	0	0	2391	1145	40	1	277	1	C7	5	40934551	Missense_Mutation	SNP	G	TCGA-FG-7643-01A-11D-2086-08	3765366	40934551	139980709	25	25000											
ATP6AP1L	92270	broad.mit.edu	37	5	81613927	81613927	+	Silent	SNP	G	G	A			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr5:81613927G>A	ENST00000380167.4	+	10	1808	c.483G>A	c.(481-483)ctG>ctA	p.L161L	ATP6AP1L_ENST00000508366.1_Intron|ATP6AP1L_ENST00000439350.1_Silent_p.L161L			Q52LC2	VAS1L_HUMAN	ATPase, H+ transporting, lysosomal accessory protein 1-like	161					ATP hydrolysis coupled proton transport	integral to membrane|proton-transporting V-type ATPase, V1 domain	hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	12						TCCTGCTGCTGGTGTTGGCCT	0.557													5	70					0	0	1	0	0	A	81613927	G	A	81613927	2	1	200	1	0	0	0	0	0	0	0	1	1164	1335	47	2		2	ATP6AP1L	5	81613927	Silent	SNP	G	TCGA-FG-7643-01A-11D-2086-08	40679376	81613927	99301333	26	25001											
GPR98	84059	broad.mit.edu	37	5	90106376	90106376	+	Missense_Mutation	SNP	G	G	T			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr5:90106376G>T	ENST00000405460.2	+	74	15395	c.15299G>T	c.(15298-15300)aGg>aTg	p.R5100M	GPR98_ENST00000425867.2_Missense_Mutation_p.R761M	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	5100					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GTAGAAATTAGGGGATTACAA	0.333													10	122					0.000978159	0.0010185	1	1	0	T	90106376	G	T	90106376	3	4	200	1	0	0	0	0	1	0	0	0	6762	1000	35	4	15593	4	GPR98	5	90106376	Missense_Mutation	SNP	G	TCGA-FG-7643-01A-11D-2086-08	8492449	90106376	90808884	27	25002											
SLCO6A1	133482	broad.mit.edu	37	5	101709135	101709135	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr5:101709135C>T	ENST00000506729.1	-	13	2252	c.2081G>A	c.(2080-2082)cGt>cAt	p.R694H	SLCO6A1_ENST00000379810.1_Missense_Mutation_p.R441H|SLCO6A1_ENST00000379807.3_Missense_Mutation_p.R694H|SLCO6A1_ENST00000513675.1_Missense_Mutation_p.R441H|SLCO6A1_ENST00000389019.3_Missense_Mutation_p.R632H			Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family, member 6A1	694						integral to membrane|plasma membrane	transporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		CTCATTTAGACGACGTTTGTA	0.323													12	120					0	0	1	0	0	T	101709135	C	T	101709135	3	4	200	1	0	0	0	0	1	0	0	0	14787	536	19	1	82	1	SLCO6A1	5	101709135	Missense_Mutation	SNP	C	TCGA-FG-7643-01A-11D-2086-08	11602759	101709135	79206125	28	25003											
EGR1	1958	broad.mit.edu	37	5	137803725	137803725	+	Silent	SNP	G	G	A			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr5:137803725G>A	ENST00000239938.4	+	2	1859	c.1587G>A	c.(1585-1587)tcG>tcA	p.S529S		NM_001964.2	NP_001955.1	P18146	EGR1_HUMAN	early growth response 1	529					cellular response to heparin|cellular response to mycophenolic acid|glomerular mesangial cell proliferation|interleukin-1-mediated signaling pathway|positive regulation of glomerular metanephric mesangial cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of protein sumoylation|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytoplasm|nucleus	histone acetyltransferase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|ovary(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			CAGGGCTTTCGGACATGACAG	0.512													17	128					0	0	1	0	0	A	137803725	G	A	137803725	2	1	200	1	0	0	0	0	0	0	0	1	4997	1103	39	1		1	EGR1	5	137803725	Silent	SNP	G	TCGA-FG-7643-01A-11D-2086-08	36094590	137803725	43111535	29	25004											
PCDHB8	56128	broad.mit.edu	37	5	140558380	140558380	+	Missense_Mutation	SNP	C	C	G			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr5:140558380C>G	ENST00000239444.2	+	1	1010	c.765C>G	c.(763-765)gaC>gaG	p.D255E		NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN		255	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCTCTGAGGACAGTCCAATAA	0.468													27	162					0	0	1	0	0	G	140558380	C	G	140558380	3	3	200	1	0	0	0	0	1	0	0	0	11595	477	17	5	767	5	PCDHB8	5	140558380	Missense_Mutation	SNP	C	TCGA-FG-7643-01A-11D-2086-08	2754655	140558380	40356880	30	25005											
PCDHGC4	56098	broad.mit.edu	37	5	140865844	140865844	+	Silent	SNP	G	G	A			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr5:140865844G>A	ENST00000306593.1	+	1	1104	c.1104G>A	c.(1102-1104)gtG>gtA	p.V368V	PCDHGB4_ENST00000519479.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB2_ENST00000522605.1_Intron	NM_018928.2|NM_032406.1	NP_061751.1|NP_115782.1														NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(13)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	42			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGGCACTGTGGTGGCACTTA	0.547													9	77					0	0	1	0	0	A	140865844	G	A	140865844	2	1	200	1	0	0	0	0	0	0	0	1	11617	1335	47	2		2	PCDHGC4	5	140865844	Silent	SNP	G	TCGA-FG-7643-01A-11D-2086-08	307464	140865844	40049416	31	25006											
DIAPH1	1729	broad.mit.edu	37	5	140908744	140908744	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr5:140908744C>T	ENST00000253811.6	-	21	2916	c.2776G>A	c.(2776-2778)Gtg>Atg	p.V926M	DIAPH1_ENST00000398566.3_Missense_Mutation_p.V917M|DIAPH1_ENST00000398562.2_Missense_Mutation_p.V901M|DIAPH1_ENST00000494967.1_5'UTR|DIAPH1_ENST00000389057.5_Missense_Mutation_p.V916M|DIAPH1_ENST00000398557.4_Missense_Mutation_p.V925M|DIAPH1_ENST00000389054.3_Missense_Mutation_p.V922M|DIAPH1_ENST00000520569.1_Missense_Mutation_p.V868M|DIAPH1_ENST00000518047.1_Missense_Mutation_p.V913M			O60610	DIAP1_HUMAN	diaphanous-related formin 1	925	FH2.				regulation of microtubule-based process|sensory perception of sound	cytoplasm|cytoskeleton|ruffle membrane	actin binding|receptor binding|Rho GTPase binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2)	23			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCACCACCACGCCAAACTGC	0.512													16	135					0	0	1	0	0	T	140908744	C	T	140908744	3	4	200	1	0	0	0	0	1	0	0	0	4546	536	19	1	1077	1	DIAPH1	5	140908744	Missense_Mutation	SNP	C	TCGA-FG-7643-01A-11D-2086-08	42900	140908744	40006516	32	25007											
SPINK5	11005	broad.mit.edu	37	5	147491350	147491350	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr5:147491350G>A	ENST00000359874.3	+	19	1785	c.1712G>A	c.(1711-1713)cGt>cAt	p.R571H	SPINK5_ENST00000256084.7_Missense_Mutation_p.R571H|SPINK5_ENST00000398454.1_Missense_Mutation_p.R571H	NM_001127698.1	NP_001121170.1	Q9NQ38	ISK5_HUMAN	serine peptidase inhibitor, Kazal type 5	571	Kazal-like 9.				anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation	cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm	serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGTGAATATCGTCATTATGTG	0.433													17	79					0	0	1	0	0	A	147491350	G	A	147491350	3	1	200	1	0	0	0	0	1	0	0	0	15118	1145	40	1	1786	1	SPINK5	5	147491350	Missense_Mutation	SNP	G	TCGA-FG-7643-01A-11D-2086-08	6582606	147491350	33423910	33	25008											
FAM71B	153745	broad.mit.edu	37	5	156589802	156589802	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr5:156589802G>A	ENST00000302938.4	-	2	1569	c.1474C>T	c.(1474-1476)Cga>Tga	p.R492*		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	492						nucleus				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GAGCCATGTCGCTTGCCCCTT	0.512													16	109					0	0	1	0	0	A	156589802	G	A	156589802	4	1	200	1	0	0	0	0	0	1	0	0	5643	1095	38	1	347	1	FAM71B	5	156589802	Nonsense_Mutation	SNP	G	TCGA-FG-7643-01A-11D-2086-08	9098452	156589802	24325458	34	25009											
CDSN	1041	broad.mit.edu	37	6	31083952	31083952	+	Silent	SNP	G	G	A			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr6:31083952G>A	ENST00000376288.2	-	2	1466	c.1440C>T	c.(1438-1440)tcC>tcT	p.S480S	PSORS1C1_ENST00000467107.1_3'UTR|PSORS1C1_ENST00000259881.9_Intron	NM_001264.4	NP_001255	Q15517	CDSN_HUMAN	corneodesmosin	480					cell-cell adhesion|keratinocyte differentiation|skin morphogenesis	cornified envelope|desmosome|extracellular region	protein homodimerization activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)	10						TGGCACCAGCGGAGGGATCAG	0.622													9	52					0	0	1	0	0	A	31083952	G	A	31083952	2	1	200	1	0	0	0	0	0	0	0	1	3201	1103	39	1		1	CDSN	6	31083952	Silent	SNP	G	TCGA-FG-7643-01A-11D-2086-08		31083952	140031115	35	25010											
MICB	4277	broad.mit.edu	37	6	31473999	31473999	+	Silent	SNP	C	C	T			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr6:31473999C>T	ENST00000252229.6	+	3	484	c.405C>T	c.(403-405)taC>taT	p.Y135Y	MICB_ENST00000538442.1_Silent_p.Y103Y|MICB_ENST00000399150.3_Intron	NM_005931.3	NP_005922.2	Q29980	MICB_HUMAN	MHC class I polypeptide-related sequence B	135					antigen processing and presentation|cytolysis|gamma-delta T cell activation|immune response|immune response-activating cell surface receptor signaling pathway|interspecies interaction between organisms|negative regulation of defense response to virus by host|response to heat|response to oxidative stress|response to retinoic acid	integral to plasma membrane|MHC class I protein complex	natural killer cell lectin-like receptor binding			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)	13						ATTTCTACTACGATGGGGAGC	0.552													4	46					0	0	1	0	0	T	31473999	C	T	31473999	2	4	200	1	0	0	0	0	0	0	0	1	9623	547	19	1		1	MICB	6	31473999	Silent	SNP	C	TCGA-FG-7643-01A-11D-2086-08	390047	31473999	139641068	36	25011											
ROS1	6098	broad.mit.edu	37	6	117686238	117686238	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr6:117686238G>A	ENST00000368508.3	-	20	3301	c.3103C>T	c.(3103-3105)Cga>Tga	p.R1035*	ROS1_ENST00000368507.3_Nonsense_Mutation_p.R1030*|GOPC_ENST00000467125.1_Intron	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	1035	Fibronectin type-III 4.				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity	p.R1035*(2)	TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		TCAGGTGCTCGAAGTGACAGA	0.378			T	"GOPC, SDC4, SLC34A2, EZR, LRIG3"	"glioblastoma, NSCLC"								13	81					0	0	1	0	0	A	117686238	G	A	117686238	4	1	200	1	0	0	0	0	0	1	0	0	13583	1066	37	1	4036	1	ROS1	6	117686238	Nonsense_Mutation	SNP	G	TCGA-FG-7643-01A-11D-2086-08	86212239	117686238	53428829	37	25012											
GARS	2617	broad.mit.edu	37	7	30651808	30651808	+	Missense_Mutation	SNP	T	T	G			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr7:30651808T>G	ENST00000389266.3	+	8	1219	c.978T>G	c.(976-978)atT>atG	p.I326M		NM_002047.2	NP_002038.2	P41250	SYG_HUMAN	glycyl-tRNA synthetase	326					cell death|diadenosine tetraphosphate biosynthetic process|glycyl-tRNA aminoacylation	cytosol|mitochondrial matrix|soluble fraction	ATP binding|glycine-tRNA ligase activity|protein dimerization activity			breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1)	24					Glycine(DB00145)	CTGCCCAGATTGGAAATTCTT	0.423													9	84					0	0	1	0	0	G	30651808	T	G	30651808	3	3	200	1	0	0	0	0	1	0	0	0	6282	1800	63	5	1008	5	GARS	7	30651808	Missense_Mutation	SNP	T	TCGA-FG-7643-01A-11D-2086-08		30651808	128486855	38	25013											
MAGI2	9863	broad.mit.edu	37	7	77885614	77885614	+	Missense_Mutation	SNP	G	G	T			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr7:77885614G>T	ENST00000354212.4	-	10	1946	c.1693C>A	c.(1693-1695)Ccg>Acg	p.P565T	MAGI2_ENST00000419488.1_Missense_Mutation_p.P565T|MAGI2_ENST00000535697.1_Missense_Mutation_p.P402T|MAGI2_ENST00000522391.1_Missense_Mutation_p.P565T|MAGI2_ENST00000536571.1_Missense_Mutation_p.P397T	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	565						cell junction|synapse|synaptosome	phosphatase binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				GAATGAGGCGGCCGATCTGTT	0.507													7	98					1.06961e-07	1.16162e-07	1	1	0	T	77885614	G	T	77885614	3	4	200	1	0	0	0	0	1	0	0	0	9241	1203	42	5	2726	5	MAGI2	7	77885614	Missense_Mutation	SNP	G	TCGA-FG-7643-01A-11D-2086-08	47233806	77885614	81253049	39	25014											
LAMB4	22798	broad.mit.edu	37	7	107732214	107732214	+	Missense_Mutation	SNP	G	G	A	rs143703672		TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr7:107732214G>A	ENST00000388781.3	-	14	1641	c.1558C>T	c.(1558-1560)Ccc>Tcc	p.P520S	LAMB4_ENST00000414450.2_Missense_Mutation_p.P520S|LAMB4_ENST00000388780.3_Missense_Mutation_p.P520S|LAMB4_ENST00000418464.1_Missense_Mutation_p.P520S|LAMB4_ENST00000205386.4_Missense_Mutation_p.P520S	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	520	Laminin EGF-like 5; truncated.				cell adhesion	basement membrane				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						CCATTCTTGGGTGAGCACCTG	0.493													8	110					0	0	1	0	0	A	107732214	G	A	107732214	3	1	200	1	0	0	0	0	1	0	0	0	8652	1261	44	2	3811	2	LAMB4	7	107732214	Missense_Mutation	SNP	G	TCGA-FG-7643-01A-11D-2086-08	29846600	107732214	51406449	40	25015											
EPHX2	2053	broad.mit.edu	37	8	27382881	27382881	+	Missense_Mutation	SNP	C	C	T	rs76549048		TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr8:27382881C>T	ENST00000521400.1	+	12	1491	c.1061C>T	c.(1060-1062)gCg>gTg	p.A354V	EPHX2_ENST00000521780.1_Missense_Mutation_p.A288V|EPHX2_ENST00000517536.1_Missense_Mutation_p.A171V|EPHX2_ENST00000518379.1_Missense_Mutation_p.A322V|EPHX2_ENST00000380476.3_Missense_Mutation_p.A301V	NM_001979.5	NP_001970.2	P34913	HYES_HUMAN	epoxide hydrolase 2, cytoplasmic	354	Epoxide hydrolase.				aromatic compound catabolic process|cellular calcium ion homeostasis|drug metabolic process|inflammatory response|positive regulation of vasodilation|reactive oxygen species metabolic process|regulation of blood pressure|response to toxin|xenobiotic metabolic process	cytosol|focal adhesion|Golgi apparatus|nucleolus|peroxisome|soluble fraction	epoxide hydrolase activity|metal ion binding|protein homodimerization activity	p.A354V(1)		cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1)	27		Ovarian(32;2.61e-05)|all_epithelial(46;0.207)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0226)|Epithelial(17;1.12e-09)|Colorectal(74;0.157)	Tamoxifen(DB00675)	TTCTGTAGGGCGGTGGCCAGT	0.463													9	128					0	0	1	0	0	T	27382881	C	T	27382881	3	4	200	1	0	0	0	0	1	0	0	0	5208	768	27	1	1107	1	EPHX2	8	27382881	Missense_Mutation	SNP	C	TCGA-FG-7643-01A-11D-2086-08		27382881	118981141	41	25016											
KIF13B	23303	broad.mit.edu	37	8	28981588	28981588	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr8:28981588C>T	ENST00000524189.1	-	27	3343	c.3305G>A	c.(3304-3306)cGt>cAt	p.R1102H	CTD-2647L4.1_ENST00000523661.1_RNA	NM_015254.3	NP_056069.2	Q9NQT8	KI13B_HUMAN	kinesin family member 13B	1102					microtubule-based movement|protein targeting|signal transduction|T cell activation	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein kinase binding			endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		GTACTCCTGACGTTTTGTTAA	0.343													5	39					0	0	1	0	0	T	28981588	C	T	28981588	3	4	200	1	0	0	0	0	1	0	0	0	8317	536	19	1	2231	1	KIF13B	8	28981588	Missense_Mutation	SNP	C	TCGA-FG-7643-01A-11D-2086-08	1598707	28981588	117382434	42	25017											
WRN	7486	broad.mit.edu	37	8	30938764	30938764	+	Silent	SNP	G	G	A			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr8:30938764G>A	ENST00000298139.5	+	9	1470	c.1221G>A	c.(1219-1221)caG>caA	p.Q407Q		NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like	407					base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding			central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		TTTTGGAACAGCAGTCTCAGG	0.338			"Mis, N, F, S"			"osteosarcoma, meningioma, others"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome				6	78					0	0	1	0	0	A	30938764	G	A	30938764	2	1	200	1	0	0	0	0	0	0	0	1	17462	962	34	2		2	WRN	8	30938764	Silent	SNP	G	TCGA-FG-7643-01A-11D-2086-08	1957176	30938764	115425258	43	25018											
RP1	6101	broad.mit.edu	37	8	55533746	55533746	+	Missense_Mutation	SNP	G	G	T			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr8:55533746G>T	ENST00000220676.1	+	2	368	c.220G>T	c.(220-222)Gtg>Ttg	p.V74L		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	74	Doublecortin 1.				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			GTCCAGGAAGGTGCCCCTCCC	0.597													11	169					9.05144e-12	1.01577e-11	1	1	0	T	55533746	G	T	55533746	3	4	200	1	0	0	0	0	1	0	0	0	13584	1261	44	5	222	5	RP1	8	55533746	Missense_Mutation	SNP	G	TCGA-FG-7643-01A-11D-2086-08	24594982	55533746	90830276	44	25019											
CYP7A1	1581	broad.mit.edu	37	8	59409693	59409693	+	Silent	SNP	G	G	A			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr8:59409693G>A	ENST00000301645.3	-	3	515	c.378C>T	c.(376-378)aaC>aaT	p.N126N		NM_000780.3	NP_000771.2	P22680	CP7A1_HUMAN	cytochrome P450, family 7, subfamily A, polypeptide 1	126					bile acid biosynthetic process|cellular lipid metabolic process|cellular response to cholesterol|cellular response to glucose stimulus|cholesterol catabolic process|cholesterol homeostasis|regulation of bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	cholesterol 7-alpha-monooxygenase activity|electron carrier activity|heme binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(1)|urinary_tract(1)	34		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)				TGAAAGTGTCGTTTATGTTTT	0.443									Neonatal Giant Cell Hepatitis				6	87					0	0	1	0	0	A	59409693	G	A	59409693	2	1	200	1	0	0	0	0	0	0	0	1	4219	1136	40	1		1	CYP7A1	8	59409693	Silent	SNP	G	TCGA-FG-7643-01A-11D-2086-08	3875947	59409693	86954329	45	25020											
MPDZ	8777	broad.mit.edu	37	9	13206053	13206053	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr9:13206053C>A	ENST00000319217.7	-	11	1583	c.1336G>T	c.(1336-1338)Gag>Tag	p.E446*	MPDZ_ENST00000447879.1_Nonsense_Mutation_p.E446*|MPDZ_ENST00000546205.1_Nonsense_Mutation_p.E446*|MPDZ_ENST00000381022.2_Nonsense_Mutation_p.E446*|MPDZ_ENST00000541718.1_Nonsense_Mutation_p.E446*|MPDZ_ENST00000536827.1_Nonsense_Mutation_p.E446*|MPDZ_ENST00000381015.4_Nonsense_Mutation_p.E446*	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	446	PDZ 3.				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		CGCAATACCTCTACTGCTTGC	0.393													3	31					1	1	1	1	0	A	13206053	C	A	13206053	4	1	200	1	0	0	0	0	0	1	0	0	9771	922	32	4	4933	4	MPDZ	9	13206053	Nonsense_Mutation	SNP	C	TCGA-FG-7643-01A-11D-2086-08		13206053	128007378	46	25021											
RTKN2	219790	broad.mit.edu	37	10	63957831	63957831	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr10:63957831T>C	ENST00000373789.3	-	12	1762	c.1666A>G	c.(1666-1668)Atg>Gtg	p.M556V	RTKN2_ENST00000315289.2_Intron|RTKN2_ENST00000395265.1_Intron	NM_145307.2	NP_660350.2	Q8IZC4	RTKN2_HUMAN	rhotekin 2	556					signal transduction	intracellular				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Prostate(12;0.0297)|all_hematologic(501;0.215)					GGAGCAGCCATTGGTTTCTGT	0.428													15	75					0	0	1	0	0	C	63957831	T	C	63957831	3	2	200	1	0	0	0	0	1	0	0	0	13775	1493	52	3	167	3	RTKN2	10	63957831	Missense_Mutation	SNP	T	TCGA-FG-7643-01A-11D-2086-08		63957831	71576916	47	25022											
PLEKHA1	59338	broad.mit.edu	37	10	124157455	124157455	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr10:124157455C>T	ENST00000368988.1	+	3	286	c.163C>T	c.(163-165)Cgt>Tgt	p.R55C	PLEKHA1_ENST00000494222.1_3'UTR|PLEKHA1_ENST00000433307.1_Missense_Mutation_p.R55C|PLEKHA1_ENST00000538022.1_Missense_Mutation_p.R55C|PLEKHA1_ENST00000368989.2_Missense_Mutation_p.R55C|PLEKHA1_ENST00000368990.3_Missense_Mutation_p.R55C			Q9HB21	PKHA1_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 1	55	PH 1.				B cell receptor signaling pathway|cellular response to hydrogen peroxide|establishment of protein localization|negative regulation of protein kinase B signaling cascade|phosphatidylinositol 3-kinase cascade|ruffle organization	cytoplasm|nucleus|ruffle membrane	PDZ domain binding|phosphatidylinositol-3,4-bisphosphate binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	13		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				TGGATCATCACGTGTTGGAGC	0.299													16	66					0	0	1	0	0	T	124157455	C	T	124157455	3	4	200	1	0	0	0	0	1	0	0	0	12103	536	19	1	169	1	PLEKHA1	10	124157455	Missense_Mutation	SNP	C	TCGA-FG-7643-01A-11D-2086-08	60199624	124157455	11377292	48	25023											
EBF3	253738	broad.mit.edu	37	10	131761728	131761728	+	Missense_Mutation	SNP	G	G	T			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr10:131761728G>T	ENST00000368648.3	-	2	266	c.194C>A	c.(193-195)tCc>tAc	p.S65Y	EBF3_ENST00000355311.5_Missense_Mutation_p.S65Y	NM_001005463.2	NP_001005463.1	Q9H4W6	COE3_HUMAN	early B-cell factor 3	65	Interaction with DNA (By similarity).				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding|protein binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	44		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)		OV - Ovarian serous cystadenocarcinoma(35;0.00513)		GAAGAAATTGGATTTCCGGAG	0.612													8	59					0.000673444	0.000708519	1	1	0	T	131761728	G	T	131761728	3	4	200	1	0	0	0	0	1	0	0	0	4908	1174	41	5	1521	5	EBF3	10	131761728	Missense_Mutation	SNP	G	TCGA-FG-7643-01A-11D-2086-08	7604273	131761728	3773019	49	25024											
NLRP6	171389	broad.mit.edu	37	11	281299	281299	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr11:281299C>T	ENST00000534750.1	+	4	1770	c.1565C>T	c.(1564-1566)gCg>gTg	p.A522V	NLRP6_ENST00000312165.5_Missense_Mutation_p.A522V	NM_001276700.1	NP_001263629.1	P59044	NALP6_HUMAN	NLR family, pyrin domain containing 6	522						cytoplasm	ATP binding			breast(1)|skin(1)|upper_aerodigestive_tract(2)	4		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)		CCCAGGACCGCGGCTGGCGGC	0.677													5	21					0	0	1	0	0	T	281299	C	T	281299	3	4	200	1	0	0	0	0	1	0	0	0	10528	768	27	1	1579	1	NLRP6	11	281299	Missense_Mutation	SNP	C	TCGA-FG-7643-01A-11D-2086-08		281299	134725217	50	25025											
OR52M1	119772	broad.mit.edu	37	11	4567000	4567000	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr11:4567000G>A	ENST00000360213.1	+	1	580	c.580G>A	c.(580-582)Gac>Aac	p.D194N		NM_001004137.1	NP_001004137.1	Q8NGK5	O52M1_HUMAN	olfactory receptor, family 52, subfamily M, member 1	194					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(2)|lung(9)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		GACATGTGGCGACAGCAGGGT	0.512													31	181					0	0	1	0	0	A	4567000	G	A	4567000	3	1	200	1	0	0	0	0	1	0	0	0	11174	1058	37	1	582	1	OR52M1	11	4567000	Missense_Mutation	SNP	G	TCGA-FG-7643-01A-11D-2086-08	4285701	4567000	130439516	51	25026											
OR51E1	143503	broad.mit.edu	37	11	4674486	4674486	+	Missense_Mutation	SNP	G	G	A	rs148787592		TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr11:4674486G>A	ENST00000396952.5	+	2	1380	c.730G>A	c.(730-732)Gtc>Atc	p.V244I	OR51E1_ENST00000530215.1_Intron	NM_152430.3	NP_689643.2	Q8TCB6	O51E1_HUMAN	olfactory receptor, family 51, subfamily E, member 1	243					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V243I(1)		NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|skin(1)|stomach(2)	30		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;7.37e-14)|GBM - Glioblastoma multiforme(2;2.85e-05)|BRCA - Breast invasive adenocarcinoma(625;0.00222)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGGCACTTGCGTCTCTCATGT	0.498													13	75					0	0	1	0	0	A	4674486	G	A	4674486	3	1	200	1	0	0	0	0	1	0	0	0	11142	1145	40	1	732	1	OR51E1	11	4674486	Missense_Mutation	SNP	G	TCGA-FG-7643-01A-11D-2086-08	107486	4674486	130332030	52	25027											
COMMD9	29099	broad.mit.edu	37	11	36296235	36296235	+	Missense_Mutation	SNP	A	A	T			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr11:36296235A>T	ENST00000263401.5	-	6	560	c.544T>A	c.(544-546)Tta>Ata	p.L182I	COMMD9_ENST00000452374.2_Missense_Mutation_p.L140I|COMMD9_ENST00000532705.1_Missense_Mutation_p.V170D	NM_014186.3	NP_054905.2	Q9P000	COMD9_HUMAN	COMM domain containing 9	182	COMM.									kidney(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	5	all_lung(20;0.211)	all_hematologic(20;0.107)				AGGCCATCTAACATGGTGTCC	0.562													4	141					0	0	1	0	0	T	36296235	A	T	36296235	3	4	200	1	0	0	0	0	1	0	0	0	3746	40	2	5	56	5	COMMD9	11	36296235	Missense_Mutation	SNP	A	TCGA-FG-7643-01A-11D-2086-08	31621749	36296235	98710281	53	25028											
OR5D18	219438	broad.mit.edu	37	11	55587486	55587486	+	Silent	SNP	T	T	A			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr11:55587486T>A	ENST00000333976.4	+	1	401	c.381T>A	c.(379-381)atT>atA	p.I127I		NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D, member 18	127					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				TCGTGGCCATTTGCAACCCTC	0.463													23	160					0	0	1	0	0	A	55587486	T	A	55587486	2	1	200	1	0	0	0	0	0	0	0	1	11204	1829	64	5		5	OR5D18	11	55587486	Silent	SNP	T	TCGA-FG-7643-01A-11D-2086-08	19291251	55587486	79419030	54	25029											
ROM1	6094	broad.mit.edu	37	11	62381890	62381890	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr11:62381890C>T	ENST00000278833.3	+	2	1292	c.751C>T	c.(751-753)Caa>Taa	p.Q251*	ROM1_ENST00000534093.1_Silent_p.P41P	NM_000327.3	NP_000318	Q03395	ROM1_HUMAN	retinal outer segment membrane protein 1	251					cell adhesion|visual perception	integral to plasma membrane				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	8						CCTCTGGGCCCAAGGGTGCCA	0.602													19	94					0	0	1	0	0	T	62381890	C	T	62381890	4	4	200	1	0	0	0	0	0	1	0	0	13573	595	21	2	757	2	ROM1	11	62381890	Nonsense_Mutation	SNP	C	TCGA-FG-7643-01A-11D-2086-08	6794404	62381890	72624626	55	25030											
SLC22A12	116085	broad.mit.edu	37	11	64367294	64367294	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr11:64367294G>A	ENST00000377574.1	+	7	1964	c.1217G>A	c.(1216-1218)cGc>cAc	p.R406H	SLC22A12_ENST00000377567.2_Missense_Mutation_p.R298H|SLC22A12_ENST00000336464.7_Missense_Mutation_p.R372H|SLC22A12_ENST00000377572.1_Missense_Mutation_p.R298H|SLC22A12_ENST00000473690.1_Missense_Mutation_p.R185H	NM_144585.2	NP_653186.2	Q96S37	S22AC_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 12	406					cellular homeostasis|response to drug|urate metabolic process	apical plasma membrane|brush border membrane|integral to membrane	PDZ domain binding|urate transmembrane transporter activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27						CTGGGCCGCCGCCCCACGCTG	0.642													4	90					0	0	1	0	0	A	64367294	G	A	64367294	3	1	200	1	0	0	0	0	1	0	0	0	14498	1087	38	1	1243	1	SLC22A12	11	64367294	Missense_Mutation	SNP	G	TCGA-FG-7643-01A-11D-2086-08	1985404	64367294	70639222	56	25031											
TMEM151A	256472	broad.mit.edu	37	11	66063102	66063102	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr11:66063102G>A	ENST00000327259.4	+	2	1529	c.1385G>A	c.(1384-1386)gGg>gAg	p.G462E		NM_153266.3	NP_694998.1	Q8N4L1	T151A_HUMAN	transmembrane protein 151A	462						integral to membrane				central_nervous_system(1)|kidney(4)|lung(6)	11						GGCTGCCAGGGGGATGGGCAG	0.657													4	27					0	0	1	0	0	A	66063102	G	A	66063102	3	1	200	1	0	0	0	0	1	0	0	0	16130	1232	43	2	1391	2	TMEM151A	11	66063102	Missense_Mutation	SNP	G	TCGA-FG-7643-01A-11D-2086-08	1695808	66063102	68943414	57	25032											
FOLH1B	219595	broad.mit.edu	37	11	89407164	89407165	+	RNA	INS	-	-	T	rs72449667		TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr11:89407164_89407165insT	ENST00000532352.1	+	0	1114							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B						proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						CCATCAATGACTTTTTTTTTTT	0.302													2	4	---	---	---	---						T	89407165	-	T	89407164	6	5	200	0	1	1	1	0	0	0	0	0	6013	580	20	0		0	FOLH1B	11	89407164	RNA	INS	-	TCGA-FG-7643-01A-11D-2086-08	23344062	89407164	45599352	58	25033											
SLC6A13	6540	broad.mit.edu	37	12	346452	346452	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr12:346452G>A	ENST00000343164.4	-	6	620	c.568C>T	c.(568-570)Cgg>Tgg	p.R190W	SLC6A13_ENST00000445055.2_Missense_Mutation_p.R98W	NM_016615.4	NP_057699.2	Q9NSD5	S6A13_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 13	190					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1)	28	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)			TTCAAGACCCGCCGCCTGGGG	0.617													4	86					0	0	1	0	0	A	346452	G	A	346452	3	1	200	1	0	0	0	0	1	0	0	0	14731	1086	38	1	1280	1	SLC6A13	12	346452	Missense_Mutation	SNP	G	TCGA-FG-7643-01A-11D-2086-08		346452	133505443	59	25034											
TAS2R8	50836	broad.mit.edu	37	12	10959421	10959421	+	Silent	SNP	G	G	A			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr12:10959421G>A	ENST00000240615.2	-	1	471	c.159C>T	c.(157-159)atC>atT	p.I53I		NM_023918.1	NP_076407.1	Q9NYW2	TA2R8_HUMAN	taste receptor, type 2, member 8	53					sensory perception of taste	integral to membrane	taste receptor activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						AAATTCTGGCGATAACTAAAT	0.328													19	137					0	0	1	0	0	A	10959421	G	A	10959421	2	1	200	1	0	0	0	0	0	0	0	1	15644	1048	37	1		1	TAS2R8	12	10959421	Silent	SNP	G	TCGA-FG-7643-01A-11D-2086-08	10612969	10959421	122892474	60	25035											
GRIN2B	2904	broad.mit.edu	37	12	13716623	13716623	+	Silent	SNP	C	C	T			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr12:13716623C>T	ENST00000609686.1	-	13	3758	c.3549G>A	c.(3547-3549)acG>acA	p.T1183T		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B						response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GTTTGTCGCCCGTCCCGTGCT	0.617													7	150					0	0	1	0	0	T	13716623	C	T	13716623	2	4	200	1	0	0	0	0	0	0	0	1	6821	639	23	1		1	GRIN2B	12	13716623	Silent	SNP	C	TCGA-FG-7643-01A-11D-2086-08	2757202	13716623	120135272	61	25036											
GRIN2B	2904	broad.mit.edu	37	12	13906702	13906702	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr12:13906702G>A	ENST00000609686.1	-	3	768	c.559C>T	c.(559-561)Cgc>Tgc	p.R187C		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B						response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	p.R187C(1)		NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	ATGGTGCTGCGGATCTTGTTT	0.473													8	124					0	0	1	0	0	A	13906702	G	A	13906702	3	1	200	1	0	0	0	0	1	0	0	0	6821	1116	39	1	3939	1	GRIN2B	12	13906702	Missense_Mutation	SNP	G	TCGA-FG-7643-01A-11D-2086-08	190079	13906702	119945193	62	25037											
CLN5	1203	broad.mit.edu	37	13	77570092	77570092	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr13:77570092C>T	ENST00000377453.3	+	3	1834	c.542C>T	c.(541-543)aCa>aTa	p.T181I	CLN5_ENST00000485938.1_3'UTR	NM_006493.2	NP_006484.1	O75503	CLN5_HUMAN	ceroid-lipofuscinosis, neuronal 5	132					brain development|cell death|lysosomal lumen acidification|neuron maturation|protein catabolic process	endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosomal membrane|perinuclear region of cytoplasm	protein binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	16		Acute lymphoblastic leukemia(28;0.205)		GBM - Glioblastoma multiforme(99;0.0503)		AAGAACTACACAATGGAATGG	0.423													11	172					0	0	1	0	0	T	77570092	C	T	77570092	3	4	200	1	0	0	0	0	1	0	0	0	3567	478	17	2	552	2	CLN5	13	77570092	Missense_Mutation	SNP	C	TCGA-FG-7643-01A-11D-2086-08		77570092	37599786	63	25038											
LTBP2	4053	broad.mit.edu	37	14	75017918	75017918	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr14:75017918G>A	ENST00000261978.4	-	7	1921	c.1535C>T	c.(1534-1536)cCg>cTg	p.P512L	LTBP2_ENST00000557425.1_5'UTR|LTBP2_ENST00000556690.1_Missense_Mutation_p.P512L	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	512					protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		CAGCCAGGGCGGGGGTCTGGT	0.706													5	40					0	0	1	0	0	A	75017918	G	A	75017918	3	1	200	1	0	0	0	0	1	0	0	0	9119	1116	39	1	4050	1	LTBP2	14	75017918	Missense_Mutation	SNP	G	TCGA-FG-7643-01A-11D-2086-08		75017918	32331622	64	25039											
C15orf54	400360	broad.mit.edu	37	15	39544388	39544388	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr15:39544388G>A	ENST00000318578.3	+	2	420	c.52G>A	c.(52-54)Gct>Act	p.A18T	RP11-624L4.1_ENST00000560484.1_RNA|RP11-624L4.1_ENST00000558209.1_RNA|RP11-624L4.1_ENST00000561058.1_RNA|C15orf54_ENST00000561223.1_Missense_Mutation_p.A18T	NM_207445.2	NP_997328.1	Q8N8G6	CO054_HUMAN	chromosome 15 open reading frame 54	18										NS(1)|haematopoietic_and_lymphoid_tissue(2)|lung(2)	5		all_cancers(109;5.39e-14)|all_epithelial(112;3.14e-12)|Lung NSC(122;9.74e-10)|all_lung(180;2.23e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)		GBM - Glioblastoma multiforme(113;1.19e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0706)		ACCCCAGAGGGCTGAGCCGCA	0.468													18	306					0	0	1	0	0	A	39544388	G	A	39544388	3	1	200	1	0	0	0	0	1	0	0	0	1808	1203	42	2	54	2	C15orf54	15	39544388	Missense_Mutation	SNP	G	TCGA-FG-7643-01A-11D-2086-08		39544388	62987004	65	25040											
TPM1	7168	broad.mit.edu	37	15	63362113	63362113	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr15:63362113G>A	ENST00000334895.5	+	8	919	c.709G>A	c.(709-711)Gaa>Aaa	p.E237K	TPM1_ENST00000404484.4_Intron|TPM1_ENST00000267996.7_Intron|TPM1_ENST00000357980.4_Intron|TPM1_ENST00000559397.1_Intron|TPM1_ENST00000317516.7_Missense_Mutation_p.E237K|TPM1_ENST00000358278.3_Intron|TPM1_ENST00000559556.1_Intron	NM_001018008.1	NP_001018008.1	P09493	TPM1_HUMAN	tropomyosin 1 (alpha)	273					cardiac muscle contraction|cellular component movement|cellular response to reactive oxygen species|muscle filament sliding|negative regulation of cell migration|positive regulation of ATPase activity|positive regulation of cell adhesion|positive regulation of heart rate by epinephrine|positive regulation of stress fiber assembly|regulation of muscle contraction|ruffle organization|sarcomere organization|ventricular cardiac muscle tissue morphogenesis|wound healing	bleb|cytosol|muscle thin filament tropomyosin|ruffle membrane|stress fiber	actin binding|structural constituent of cytoskeleton|structural constituent of muscle			endometrium(1)|large_intestine(1)|lung(2)	4						CCTCACTAATGAACTAAAGCT	0.458													6	91					0	0	1	0	0	A	63362113	G	A	63362113	3	1	200	1	0	0	0	0	1	0	0	0	16466	1291	45	2	1292	2	TPM1	15	63362113	Missense_Mutation	SNP	G	TCGA-FG-7643-01A-11D-2086-08	23817725	63362113	39169279	66	25041											
IL16	3603	broad.mit.edu	37	15	81592440	81592440	+	Missense_Mutation	SNP	C	C	G			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr15:81592440C>G	ENST00000394660.2	+	14	3133	c.2773C>G	c.(2773-2775)Cca>Gca	p.P925A	IL16_ENST00000302987.4_Missense_Mutation_p.P925A|IL16_ENST00000394652.2_Missense_Mutation_p.P224A	NM_001172128.1|NM_172217.3	NP_001165599.1|NP_757366.2	Q14005	IL16_HUMAN	interleukin 16	925					immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						GTCCCCTCCCCCAGGGCGGCA	0.642													11	70					0	0	1	0	0	G	81592440	C	G	81592440	3	3	200	1	0	0	0	0	1	0	0	0	7677	623	22	5	2823	5	IL16	15	81592440	Missense_Mutation	SNP	C	TCGA-FG-7643-01A-11D-2086-08	18230327	81592440	20938952	67	25042											
FAM169B	283777	broad.mit.edu	37	15	99023868	99023868	+	Missense_Mutation	SNP	G	G	A	rs141122936	by1000genomes	TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr15:99023868G>A	ENST00000558256.1	-	4	394	c.145C>T	c.(145-147)Cgt>Tgt	p.R49C	FAM169B_ENST00000332908.4_Missense_Mutation_p.R49C	NM_182562.2	NP_872368.2	Q8N8A8	F169B_HUMAN	family with sequence similarity 169, member B	49										large_intestine(3)|lung(3)|urinary_tract(1)	7						GCCGCTCCACGTCTCCACAGG	0.473													9	131					0	0	1	0	0	A	99023868	G	A	99023868	3	1	200	1	0	0	0	0	1	0	0	0	5518	1145	40	1	449	1	FAM169B	15	99023868	Missense_Mutation	SNP	G	TCGA-FG-7643-01A-11D-2086-08	17431428	99023868	3507524	68	25043											
PIGQ	9091	broad.mit.edu	37	16	633562	633562	+	Silent	SNP	C	C	T			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr16:633562C>T	ENST00000026218.5	+	10	2299	c.2211C>T	c.(2209-2211)agC>agT	p.S737S	PIGQ_ENST00000321878.5_3'UTR	NM_148920.2	NP_683721.1	Q9BRB3	PIGQ_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class Q	737					C-terminal protein lipidation|carbohydrate metabolic process|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(780;0.00335)				CCGTCCCCAGCGGGCCCGGGC	0.627													4	125					0	0	1	0	0	T	633562	C	T	633562	2	4	200	1	0	0	0	0	0	0	0	1	11944	767	27	1		1	PIGQ	16	633562	Silent	SNP	C	TCGA-FG-7643-01A-11D-2086-08		633562	89721191	69	25044											
KRT27	342574	broad.mit.edu	37	17	38933849	38933849	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr17:38933849C>T	ENST00000301656.3	-	6	1148	c.1108G>A	c.(1108-1110)Gag>Aag	p.E370K	KRT27_ENST00000540723.1_5'UTR	NM_181537.3	NP_853515.2	Q7Z3Y8	K1C27_HUMAN	keratin 27	370	Coil 2.|Rod.					cytoplasm|intermediate filament	structural molecule activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(3)|skin(1)|stomach(1)	21		Breast(137;0.000812)				TGCTCATACTCGAGCTTCTGG	0.547													31	220					0	0	1	0	0	T	38933849	C	T	38933849	3	4	200	1	0	0	0	0	1	0	0	0	8507	893	31	1	283	1	KRT27	17	38933849	Missense_Mutation	SNP	C	TCGA-FG-7643-01A-11D-2086-08		38933849	42261361	70	25045											
MAP3K3	4215	broad.mit.edu	37	17	61765935	61765935	+	Silent	SNP	C	C	T			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr17:61765935C>T	ENST00000361357.3	+	10	1170	c.852C>T	c.(850-852)gaC>gaT	p.D284D	MAP3K3_ENST00000577784.1_3'UTR|MAP3K3_ENST00000361733.3_Silent_p.D253D|MAP3K3_ENST00000577395.1_Silent_p.D249D|MAP3K3_ENST00000579585.1_Silent_p.D284D|MAP3K3_ENST00000584573.1_Silent_p.D280D	NM_203351.1	NP_976226.1	Q99759	M3K3_HUMAN	mitogen-activated protein kinase kinase kinase 3	253					MAPKKK cascade|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autophosphorylation	cytosol	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	28						GCTTCCCTGACAACAGACAGG	0.537													10	70					0	0	1	0	0	T	61765935	C	T	61765935	2	4	200	1	0	0	0	0	0	0	0	1	9301	477	17	2		2	MAP3K3	17	61765935	Silent	SNP	C	TCGA-FG-7643-01A-11D-2086-08	22832086	61765935	19429275	71	25046											
CD300E	342510	broad.mit.edu	37	17	72613303	72613303	+	Silent	SNP	T	T	C			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr17:72613303T>C	ENST00000392619.1	-	2	458	c.423A>G	c.(421-423)tcA>tcG	p.S141S	CD300E_ENST00000328630.3_Silent_p.S114S|CD300E_ENST00000426295.2_Silent_p.S155S	NM_181449.2	NP_852114.2	Q496F6	CLM2_HUMAN	CD300e molecule	114						integral to membrane|plasma membrane	receptor activity			breast(1)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	19						CGCGTGACCATGAATCCAGGA	0.547													6	163					0	0	1	0	0	C	72613303	T	C	72613303	2	2	200	1	0	0	0	0	0	0	0	1	3020	1451	51	3		3	CD300E	17	72613303	Silent	SNP	T	TCGA-FG-7643-01A-11D-2086-08	10847368	72613303	8581907	72	25047											
NOTCH3	4854	broad.mit.edu	37	19	15271630	15271630	+	Missense_Mutation	SNP	G	G	A	rs148716935		TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr19:15271630G>A	ENST00000263388.2	-	33	6884	c.6809C>T	c.(6808-6810)aCg>aTg	p.T2270M		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	2270					Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			TGGGCTAGGCGTGGATTCGGA	0.667													6	109					0	0	1	0	0	A	15271630	G	A	15271630	3	1	200	1	0	0	0	0	1	0	0	0	10597	1145	40	1	160	1	NOTCH3	19	15271630	Missense_Mutation	SNP	G	TCGA-FG-7643-01A-11D-2086-08		15271630	43857353	73	25048											
ATP4A	495	broad.mit.edu	37	19	36045932	36045932	+	Silent	SNP	C	C	T			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr19:36045932C>T	ENST00000262623.3	-	16	2401	c.2373G>A	c.(2371-2373)ttG>ttA	p.L791L		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	791					ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)	TGTTCTTGGTCAATGTGTAGG	0.572													6	104					0	0	1	0	0	T	36045932	C	T	36045932	2	4	200	1	0	0	0	0	0	0	0	1	1144	825	29	2		2	ATP4A	19	36045932	Silent	SNP	C	TCGA-FG-7643-01A-11D-2086-08	20774302	36045932	23083051	74	25049											
RYR1	6261	broad.mit.edu	37	19	38976395	38976395	+	Silent	SNP	G	G	T			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr19:38976395G>T	ENST00000355481.4	+	34	5231	c.5100G>T	c.(5098-5100)gcG>gcT	p.A1700A	RYR1_ENST00000359596.3_Silent_p.A1700A|RYR1_ENST00000360985.3_Silent_p.A1700A	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1700	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	TGGAGGACGCGCACCTGCCAG	0.652													5	126					0.0293803	0.0299739	1	1	0	T	38976395	G	T	38976395	2	4	200	1	0	0	0	0	0	0	0	1	13820	1074	38	5		5	RYR1	19	38976395	Silent	SNP	G	TCGA-FG-7643-01A-11D-2086-08	2930463	38976395	20152588	75	25050											
PTPN1	5770	broad.mit.edu	37	20	49195082	49195082	+	Silent	SNP	G	G	A			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr20:49195082G>A	ENST00000371621.3	+	6	792	c.618G>A	c.(616-618)ccG>ccA	p.P206P	PTPN1_ENST00000541713.1_Silent_p.P133P	NM_001278618.1|NM_002827.2	NP_001265547.1|NP_002818.1	P18031	PTN1_HUMAN	protein tyrosine phosphatase, non-receptor type 1	206	Tyrosine-protein phosphatase.				blood coagulation|interferon-gamma-mediated signaling pathway|negative regulation of insulin receptor signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytosol|endoplasmic reticulum membrane	protein tyrosine phosphatase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|skin(2)	16		Lung NSC(126;0.163)			Clodronate(DB00720)|Tiludronate(DB01133)	CACTCAGCCCGGAGCACGGGC	0.557													4	118					0	0	1	0	0	A	49195082	G	A	49195082	2	1	200	1	0	0	0	0	0	0	0	1	12829	1103	39	1		1	PTPN1	20	49195082	Silent	SNP	G	TCGA-FG-7643-01A-11D-2086-08		49195082	13830438	76	25051											
ZNF831	128611	broad.mit.edu	37	20	57766794	57766794	+	Silent	SNP	C	C	T			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr20:57766794C>T	ENST00000371030.2	+	1	720	c.720C>T	c.(718-720)ggC>ggT	p.G240G		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	240						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					TGCACGAAGGCGCCTCGGAGA	0.687													10	41					0	0	1	0	0	T	57766794	C	T	57766794	2	4	200	1	0	0	0	0	0	0	0	1	18232	755	27	1		1	ZNF831	20	57766794	Silent	SNP	C	TCGA-FG-7643-01A-11D-2086-08	8571712	57766794	5258726	77	25052											
RTEL1	51750	broad.mit.edu	37	20	62324212	62324212	+	Missense_Mutation	SNP	G	G	A	rs143317975		TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr20:62324212G>A	ENST00000318100.4	+	29	3534	c.2707G>A	c.(2707-2709)Gtg>Atg	p.V903M	RTEL1-TNFRSF6B_ENST00000482936.1_Missense_Mutation_p.V903M|RTEL1_ENST00000370003.1_Missense_Mutation_p.V148M|RTEL1_ENST00000360203.5_Missense_Mutation_p.V903M|RTEL1_ENST00000508582.2_Missense_Mutation_p.V927M|RTEL1_ENST00000370018.3_Missense_Mutation_p.V903M	NM_001283009.1	NP_001269938.1	Q9NZ71	RTEL1_HUMAN	regulator of telomere elongation helicase 1	903					DNA repair|regulation of double-strand break repair via homologous recombination|telomere maintenance	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)			CATGGTGGCCGTGAAGCAGGA	0.642													4	131					0	0	1	0	0	A	62324212	G	A	62324212	3	1	200	1	0	0	0	0	1	0	0	0	13772	1145	40	1	2817	1	RTEL1	20	62324212	Missense_Mutation	SNP	G	TCGA-FG-7643-01A-11D-2086-08	4557418	62324212	701308	78	25053											
CYYR1	116159	broad.mit.edu	37	21	27852702	27852702	+	Missense_Mutation	SNP	C	C	A			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr21:27852702C>A	ENST00000299340.4	-	3	566	c.223G>T	c.(223-225)Ggg>Tgg	p.G75W	CYYR1_ENST00000400043.3_Missense_Mutation_p.G75W|CYYR1_ENST00000435845.2_3'UTR|AP001597.1_ENST00000414486.1_RNA|AP001597.1_ENST00000357401.3_RNA	NM_052954.2	NP_443186.1	Q96J86	CYYR1_HUMAN	cysteine/tyrosine-rich 1	75						integral to membrane				large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	15						GCAATGACCCCCATGATAAAT	0.463													7	147					2.52707e-12	2.8678e-12	1	1	0	A	27852702	C	A	27852702	3	1	200	1	0	0	0	0	1	0	0	0	4234	623	22	5	249	5	CYYR1	21	27852702	Missense_Mutation	SNP	C	TCGA-FG-7643-01A-11D-2086-08		27852702	20277193	79	25054											
PRDM15	63977	broad.mit.edu	37	21	43259793	43259794	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr21:43259793_43259794delTC	ENST00000422911.1	-	7	1021_1022	c.920_921delGA	c.(919-921)agafs	p.R307fs	PRDM15_ENST00000538201.1_Frame_Shift_Del_p.R270fs|PRDM15_ENST00000398548.1_Frame_Shift_Del_p.R307fs|PRDM15_ENST00000447207.2_Frame_Shift_Del_p.R270fs|PRDM15_ENST00000269844.3_Frame_Shift_Del_p.R636fs	NM_001282934.1	NP_001269863.1	P57071	PRD15_HUMAN	PR domain containing 15	636					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						CTTTGGGTTTTCTCCCCCTTCG	0.599													17	394	---	---	---	---						-	43259794	TC	-	43259793	7	5	200	1	0	1	0	1	0	0	0	0	12508	1780	62	0	2687	0	PRDM15	21	43259793	Frame_Shift_Del	DEL	TC	TCGA-FG-7643-01A-11D-2086-08	15407091	43259793	4870102	80	25055											
FAM47C	442444	broad.mit.edu	37	X	37028425	37028425	+	Missense_Mutation	SNP	A	A	G	rs145580328	byFrequency	TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chrX:37028425A>G	ENST00000358047.3	+	1	1994	c.1942A>G	c.(1942-1944)Aat>Gat	p.N648D		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	648								p.N648D(7)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						GGAGCCTCCCAATACTGGAGT	0.642													5	147					0	0	1	0	0	G	37028425	A	G	37028425	3	3	200	1	0	0	0	0	1	0	0	0	5607	130	5	3	1944	3	FAM47C	23	37028425	Missense_Mutation	SNP	A	TCGA-FG-7643-01A-11D-2086-08		37028425	118242135	81	25056											
ZXDA	7789	broad.mit.edu	37	X	57934557	57934557	+	Silent	SNP	C	C	T			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chrX:57934557C>T	ENST00000358697.4	-	1	2510	c.2298G>A	c.(2296-2298)caG>caA	p.Q766Q		NM_007156.4	NP_009087.1	P98168	ZXDA_HUMAN	zinc finger, X-linked, duplicated A	766					positive regulation of transcription, DNA-dependent	nucleus	C2H2 zinc finger domain binding|identical protein binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|prostate(2)|skin(1)	37						TTTCTCCCTCCTGTCCAAAGA	0.468													4	121					0	0	1	0	0	T	57934557	C	T	57934557	2	4	200	1	0	0	0	0	0	0	0	1	18290	680	24	2		2	ZXDA	23	57934557	Silent	SNP	C	TCGA-FG-7643-01A-11D-2086-08	20906132	57934557	97336003	82	25057											
MAGEC1	9947	broad.mit.edu	37	X	140994960	140994960	+	Silent	SNP	G	G	A			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chrX:140994960G>A	ENST00000285879.4	+	4	2056	c.1770G>A	c.(1768-1770)ctG>ctA	p.L590L	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	590							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					AGGACTCCCTGTCTCCTCACT	0.567										HNSCC(15;0.026)			8	636					0	0	1	0	0	A	140994960	G	A	140994960	2	1	200	1	0	0	0	0	0	0	0	1	9230	1364	48	2		2	MAGEC1	23	140994960	Silent	SNP	G	TCGA-FG-7643-01A-11D-2086-08	83060403	140994960	14275600	83	25058											
FAM71B	153745	broad.mit.edu	37	5	156589827	156589827	+	Silent	SNP	T	T	C			TCGA-FG-8181-01A-11D-2253-08	TCGA-FG-8181-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e783a0c-6e1a-42a7-9356-19a047593814	e2aa9ddd-903d-4888-95a7-63467ac504af	g.chr5:156589827T>C	ENST00000302938.4	-	2	1544	c.1449A>G	c.(1447-1449)aaA>aaG	p.K483K		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	483						nucleus				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TGCTGTACCCTTTTTCTTTTT	0.532													3	132					0	0	1	0	0	C	156589827	T	C	156589827	2	2	201	1	0	0	0	0	0	0	0	1	5643	1606	56	3		3	FAM71B	5	156589827	Silent	SNP	T	TCGA-FG-8181-01A-11D-2253-08		156589827	24325433	1	25059											
GIGYF1	64599	broad.mit.edu	37	7	100280978	100280980	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-FG-8181-01A-11D-2253-08	TCGA-FG-8181-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e783a0c-6e1a-42a7-9356-19a047593814	e2aa9ddd-903d-4888-95a7-63467ac504af	g.chr7:100280978_100280980delCTG	ENST00000275732.5	-	18	3349_3351	c.2140_2142delCAG	c.(2140-2142)cagdel	p.Q714del		NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN	GRB10 interacting GYF protein 1	714										central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					TCTGCTCCTCCTGCTGCTGCTGG	0.65													8	269	---	---	---	---						-	100280980	CTG	-	100280978	7	5	201	1	0	1	0	1	0	0	0	0	6419	680	24	0	993	0	GIGYF1	7	100280978	In_Frame_Del	DEL	CTG	TCGA-FG-8181-01A-11D-2253-08		100280978	58857685	2	25060											
PNLIPRP2	5408	broad.mit.edu	37	10	118396278	118396279	+	RNA	INS	-	-	T	rs11197776	by1000genomes	TCGA-FG-8181-01A-11D-2253-08	TCGA-FG-8181-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e783a0c-6e1a-42a7-9356-19a047593814	e2aa9ddd-903d-4888-95a7-63467ac504af	g.chr10:118396278_118396279insT	ENST00000537242.1	+	0	962				PNLIPRP2_ENST00000298771.7_RNA|PNLIPRP2_ENST00000433618.4_RNA	NM_005396.4	NP_005387.2	P54317	LIPR2_HUMAN	pancreatic lipase-related protein 2						galactolipid catabolic process|lipid digestion|phospholipid catabolic process|triglyceride metabolic process	extracellular space	acylglycerol lipase activity|calcium ion binding|galactolipase activity|phospholipase activity|triglyceride lipase activity			endometrium(1)|large_intestine(1)|lung(11)|prostate(3)	16				all cancers(201;0.015)		ACAAATTATGGTTTTTTTTTTC	0.426													2	4	---	---	---	---						T	118396279	-	T	118396278	6	5	201	0	1	1	1	0	0	0	0	0	12199	1276	44	0		0	PNLIPRP2	10	118396278	RNA	INS	-	TCGA-FG-8181-01A-11D-2253-08		118396278	17138469	3	25061											
FAT3	120114	broad.mit.edu	37	11	92570859	92570859	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-8181-01A-11D-2253-08	TCGA-FG-8181-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e783a0c-6e1a-42a7-9356-19a047593814	e2aa9ddd-903d-4888-95a7-63467ac504af	g.chr11:92570859G>A	ENST00000298047.6	+	16	10272	c.10255G>A	c.(10255-10257)Gta>Ata	p.V3419I	FAT3_ENST00000409404.2_Missense_Mutation_p.V3419I|FAT3_ENST00000525166.1_Missense_Mutation_p.V3269I			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3419	Cadherin 31.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TGTCCAGGCCGTAGACAGTGG	0.478										TCGA Ovarian(4;0.039)			3	58					0	0	1	0	0	A	92570859	G	A	92570859	3	1	201	1	0	0	0	0	1	0	0	0	5724	1145	40	1	10317	1	FAT3	11	92570859	Missense_Mutation	SNP	G	TCGA-FG-8181-01A-11D-2253-08		92570859	42435657	4	25062											
ZNF14	7561	broad.mit.edu	37	19	19822190	19822190	+	Missense_Mutation	SNP	C	C	G			TCGA-FG-8181-01A-11D-2253-08	TCGA-FG-8181-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e783a0c-6e1a-42a7-9356-19a047593814	e2aa9ddd-903d-4888-95a7-63467ac504af	g.chr19:19822190C>G	ENST00000344099.3	-	4	2038	c.1900G>C	c.(1900-1902)Gaa>Caa	p.E634Q		NM_021030.2	NP_066358.2	P17017	ZNF14_HUMAN	zinc finger protein 14	634					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|cervix(2)|endometrium(1)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32		Renal(1328;0.0474)				TGAGTCCTTTCATGCAGTCGA	0.403													3	57					0	0	1	0	0	G	19822190	C	G	19822190	3	3	201	1	0	0	0	0	1	0	0	0	17786	835	29	5	32	5	ZNF14	19	19822190	Missense_Mutation	SNP	C	TCGA-FG-8181-01A-11D-2253-08		19822190	39306793	5	25063											
RPN2	6185	broad.mit.edu	37	20	35812668	35812668	+	Silent	SNP	C	C	T	rs62206558		TCGA-FG-8181-01A-11D-2253-08	TCGA-FG-8181-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e783a0c-6e1a-42a7-9356-19a047593814	e2aa9ddd-903d-4888-95a7-63467ac504af	g.chr20:35812668C>T	ENST00000237530.6	+	2	410	c.99C>T	c.(97-99)gaC>gaT	p.D33D	RPN2_ENST00000373622.5_Silent_p.D33D	NM_002951.3	NP_002942.2	P04844	RPN2_HUMAN	ribophorin II	33					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|nucleus|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding	p.D33D(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(2)|stomach(1)	24		Myeloproliferative disorder(115;0.00878)				CCAAGCATGACGTGGAGAGAC	0.547													5	132					0	0	1	0	0	T	35812668	C	T	35812668	2	4	201	1	0	0	0	0	0	0	0	1	13660	535	19	1		1	RPN2	20	35812668	Silent	SNP	C	TCGA-FG-8181-01A-11D-2253-08		35812668	27212852	6	25064											
KLHL34	257240	broad.mit.edu	37	X	21674920	21674922	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-FG-8181-01A-11D-2253-08	TCGA-FG-8181-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e783a0c-6e1a-42a7-9356-19a047593814	e2aa9ddd-903d-4888-95a7-63467ac504af	g.chrX:21674920_21674922delCTC	ENST00000379499.2	-	1	1526_1528	c.985_987delGAG	c.(985-987)gagdel	p.E329del		NM_153270.1	NP_695002.1	Q8N239	KLH34_HUMAN	kelch-like family member 34	329	Glu-rich.									cervix(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	26						TGAGCTCCCActcctcctcctcc	0.65													3	6	---	---	---	---						-	21674922	CTC	-	21674920	7	5	201	1	0	1	0	1	0	0	0	0	8430	564	20	0	951	0	KLHL34	23	21674920	In_Frame_Del	DEL	CTC	TCGA-FG-8181-01A-11D-2253-08		21674920	133595640	7	25065											
TNFRSF9	3604	broad.mit.edu	37	1	7998823	7998823	+	Missense_Mutation	SNP	C	C	T	rs9657963	byFrequency	TCGA-FG-8182-01A-11D-2253-08	TCGA-FG-8182-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aeaab9f-4459-4be8-91e7-e0746cbd671c	705290ff-c3b5-4e53-956d-05fc3825ccb7	g.chr1:7998823C>T	ENST00000377507.3	-	3	332	c.166G>A	c.(166-168)Gca>Aca	p.A56T		NM_001561.5	NP_001552.2	Q07011	TNR9_HUMAN	tumor necrosis factor receptor superfamily, member 9	56			A -> T (in dbSNP:rs9657963).		induction of apoptosis|negative regulation of cell proliferation	integral to plasma membrane	binding|receptor activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	Ovarian(185;0.0634)|all_lung(157;0.151)	all_epithelial(116;9.63e-21)|all_lung(118;1.29e-06)|Lung NSC(185;7.5e-06)|Renal(390;0.000147)|Breast(348;0.000625)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.93e-71)|GBM - Glioblastoma multiforme(8;3.72e-37)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;7.71e-06)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000419)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00103)|READ - Rectum adenocarcinoma(331;0.0649)		TGTCCACCTGCGCTGGAGAAA	0.408													16	132					0	0	1	0	0	T	7998823	C	T	7998823	3	4	202	1	0	0	0	0	1	0	0	0	16360	768	27	1	625	1	TNFRSF9	1	7998823	Missense_Mutation	SNP	C	TCGA-FG-8182-01A-11D-2253-08		7998823	241251798	1	25066											
PADI3	51702	broad.mit.edu	37	1	17586174	17586174	+	Missense_Mutation	SNP	C	C	A			TCGA-FG-8182-01A-11D-2253-08	TCGA-FG-8182-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aeaab9f-4459-4be8-91e7-e0746cbd671c	705290ff-c3b5-4e53-956d-05fc3825ccb7	g.chr1:17586174C>A	ENST00000375460.3	+	2	234	c.194C>A	c.(193-195)aCc>aAc	p.T65N		NM_016233.2	NP_057317.2	Q9ULW8	PADI3_HUMAN	peptidyl arginine deiminase, type III	65					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	CGTGCAGACACCAGGCGGTGG	0.592													4	58					0.014758	0.0157205	1	1	0	A	17586174	C	A	17586174	3	1	202	1	0	0	0	0	1	0	0	0	11426	507	18	5	200	5	PADI3	1	17586174	Missense_Mutation	SNP	C	TCGA-FG-8182-01A-11D-2253-08	9587351	17586174	231664447	2	25067											
DNAJC6	9829	broad.mit.edu	37	1	65858364	65858364	+	Silent	SNP	T	T	G			TCGA-FG-8182-01A-11D-2253-08	TCGA-FG-8182-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aeaab9f-4459-4be8-91e7-e0746cbd671c	705290ff-c3b5-4e53-956d-05fc3825ccb7	g.chr1:65858364T>G	ENST00000395325.3	+	12	1705	c.1548T>G	c.(1546-1548)gcT>gcG	p.A516A	DNAJC6_ENST00000371069.4_Silent_p.A573A|DNAJC6_ENST00000263441.7_Silent_p.A503A	NM_014787.3	NP_055602.1	O75061	AUXI_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 6	516	Pro-rich.				cellular membrane organization|post-Golgi vesicle-mediated transport	cytosol	heat shock protein binding|protein tyrosine phosphatase activity|SH3 domain binding			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(22)|ovary(1)|prostate(2)|skin(1)	39						CGCCAGCGGCTCCTCCCACCA	0.582													5	44					0	0	1	0	0	G	65858364	T	G	65858364	2	3	202	1	0	0	0	0	0	0	0	1	4680	1538	54	5		5	DNAJC6	1	65858364	Silent	SNP	T	TCGA-FG-8182-01A-11D-2253-08	48272190	65858364	183392257	3	25068											
PRG4	10216	broad.mit.edu	37	1	186276306	186276306	+	Silent	SNP	T	T	C	rs78867190	byFrequency	TCGA-FG-8182-01A-11D-2253-08	TCGA-FG-8182-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aeaab9f-4459-4be8-91e7-e0746cbd671c	705290ff-c3b5-4e53-956d-05fc3825ccb7	g.chr1:186276306T>C	ENST00000445192.2	+	7	1500	c.1455T>C	c.(1453-1455)acT>acC	p.T485T	PRG4_ENST00000367486.3_Silent_p.T442T|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367485.4_Silent_p.T392T|PRG4_ENST00000367483.4_Silent_p.T444T	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	485	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	p.T485T(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CTGCACCCACTGCCCCCAAGA	0.652													5	93					0	0	1	0	0	C	186276306	T	C	186276306	2	2	202	1	0	0	0	0	0	0	0	1	12533	1567	55	3		3	PRG4	1	186276306	Silent	SNP	T	TCGA-FG-8182-01A-11D-2253-08	120417942	186276306	62974315	4	25069											
MYO3B	140469	broad.mit.edu	37	2	171509614	171509614	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-8182-01A-11D-2253-08	TCGA-FG-8182-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aeaab9f-4459-4be8-91e7-e0746cbd671c	705290ff-c3b5-4e53-956d-05fc3825ccb7	g.chr2:171509614T>C	ENST00000334231.6	+	35	4036	c.4036T>C	c.(4036-4038)Tct>Cct	p.S1346P	MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000409044.3_Missense_Mutation_p.S1310P|AC007277.3_ENST00000428156.1_RNA|MYO3B_ENST00000408978.4_Missense_Mutation_p.S1337P			Q8WXR4	MYO3B_HUMAN	myosin IIIB	1337					response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						AAAAGGAGACTCTTTTGCTCA	0.418													6	56					0	0	1	0	0	C	171509614	T	C	171509614	3	2	202	1	0	0	0	0	1	0	0	0	10125	1551	54	3	4273	3	MYO3B	2	171509614	Missense_Mutation	SNP	T	TCGA-FG-8182-01A-11D-2253-08		171509614	71689759	5	25070											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-FG-8182-01A-11D-2253-08	TCGA-FG-8182-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aeaab9f-4459-4be8-91e7-e0746cbd671c	705290ff-c3b5-4e53-956d-05fc3825ccb7	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	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								25	44					0	0	1	0	0	T	209113112	C	T	209113112	3	4	202	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-FG-8182-01A-11D-2253-08	37603498	209113112	34086261	6	25071											
RPL37A	6168	broad.mit.edu	37	2	217364056	217364056	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-8182-01A-11D-2253-08	TCGA-FG-8182-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aeaab9f-4459-4be8-91e7-e0746cbd671c	705290ff-c3b5-4e53-956d-05fc3825ccb7	g.chr2:217364056C>T	ENST00000491306.1	+	2	753	c.67C>T	c.(67-69)Cgg>Tgg	p.R23W	RPL37A_ENST00000600880.1_Missense_Mutation_p.R23W|RPL37A_ENST00000456586.1_5'UTR|RPL37A_ENST00000598925.1_5'UTR|RPL37A_ENST00000446558.1_Missense_Mutation_p.R23W|RPL37A_ENST00000441179.2_5'UTR|RPL37A_ENST00000427280.2_5'UTR	NM_000998.4	NP_000989.1	P61513	RL37A_HUMAN	ribosomal protein L37a	23					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|ribosome	metal ion binding|protein binding|structural constituent of ribosome			NS(1)|ovary(1)	2		Renal(323;0.0458)		Epithelial(149;3.51e-06)|all cancers(144;0.000249)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGCCTCCCTCCGGAAAATGGT	0.502													7	77					0	0	1	0	0	T	217364056	C	T	217364056	3	4	202	1	0	0	0	0	1	0	0	0	13642	643	23	1	73	1	RPL37A	2	217364056	Missense_Mutation	SNP	C	TCGA-FG-8182-01A-11D-2253-08	8250944	217364056	25835317	7	25072											
IGFBP2	3485	broad.mit.edu	37	2	217525369	217525369	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-8182-01A-11D-2253-08	TCGA-FG-8182-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aeaab9f-4459-4be8-91e7-e0746cbd671c	705290ff-c3b5-4e53-956d-05fc3825ccb7	g.chr2:217525369C>T	ENST00000233809.4	+	2	661	c.532C>T	c.(532-534)Cgg>Tgg	p.R178W	IGFBP2_ENST00000456764.1_Missense_Mutation_p.R34W	NM_000597.2	NP_000588	P18065	IBP2_HUMAN	insulin-like growth factor binding protein 2, 36kDa	178					positive regulation of activated T cell proliferation|regulation of cell growth|regulation of insulin-like growth factor receptor signaling pathway	extracellular space	insulin-like growth factor I binding|insulin-like growth factor II binding			endometrium(2)|large_intestine(1)|lung(2)	5		Renal(323;0.0458)		Epithelial(149;2.9e-06)|all cancers(144;0.000223)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00968)		CAGTGCTGGCCGGAAGCCCCT	0.612													10	53					0	0	1	0	0	T	217525369	C	T	217525369	3	4	202	1	0	0	0	0	1	0	0	0	7623	643	23	1	538	1	IGFBP2	2	217525369	Missense_Mutation	SNP	C	TCGA-FG-8182-01A-11D-2253-08	161313	217525369	25674004	8	25073											
COL6A3	1293	broad.mit.edu	37	2	238277572	238277572	+	Missense_Mutation	SNP	A	A	G			TCGA-FG-8182-01A-11D-2253-08	TCGA-FG-8182-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aeaab9f-4459-4be8-91e7-e0746cbd671c	705290ff-c3b5-4e53-956d-05fc3825ccb7	g.chr2:238277572A>G	ENST00000295550.4	-	10	4986	c.4534T>C	c.(4534-4536)Tcc>Ccc	p.S1512P	COL6A3_ENST00000347401.3_Missense_Mutation_p.S1311P|COL6A3_ENST00000353578.4_Missense_Mutation_p.S1306P|COL6A3_ENST00000346358.4_Missense_Mutation_p.S1312P|COL6A3_ENST00000472056.1_Missense_Mutation_p.S905P|COL6A3_ENST00000409809.1_Missense_Mutation_p.S1306P	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1512	Nonhelical region.|VWFA 8.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		TTCAGTGGGGACCCCCCTCTG	0.562													4	49					0	0	1	0	0	G	238277572	A	G	238277572	3	3	202	1	0	0	0	0	1	0	0	0	3724	275	10	3	5139	3	COL6A3	2	238277572	Missense_Mutation	SNP	A	TCGA-FG-8182-01A-11D-2253-08	20752203	238277572	4921801	9	25074											
ADAMTS9	56999	broad.mit.edu	37	3	64526873	64526873	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-8182-01A-11D-2253-08	TCGA-FG-8182-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aeaab9f-4459-4be8-91e7-e0746cbd671c	705290ff-c3b5-4e53-956d-05fc3825ccb7	g.chr3:64526873C>T	ENST00000498707.1	-	36	5761	c.5419G>A	c.(5419-5421)Ggg>Agg	p.G1807R	ADAMTS9_ENST00000295903.4_Missense_Mutation_p.G1779R	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	1807	GON.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		CGCCGGCTCCCGTTATAGGGA	0.473													21	101					0	0	1	0	0	T	64526873	C	T	64526873	3	4	202	1	0	0	0	0	1	0	0	0	272	652	23	1	404	1	ADAMTS9	3	64526873	Missense_Mutation	SNP	C	TCGA-FG-8182-01A-11D-2253-08		64526873	133495557	10	25075											
KIAA1430	57587	broad.mit.edu	37	4	186085257	186085257	+	Missense_Mutation	SNP	C	C	A			TCGA-FG-8182-01A-11D-2253-08	TCGA-FG-8182-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aeaab9f-4459-4be8-91e7-e0746cbd671c	705290ff-c3b5-4e53-956d-05fc3825ccb7	g.chr4:186085257C>A	ENST00000458385.2	-	4	1516	c.1397G>T	c.(1396-1398)cGc>cTc	p.R466L		NM_020827.1	NP_065878.1	Q9P2B7	K1430_HUMAN	KIAA1430	466										endometrium(3)|kidney(2)|large_intestine(5)|upper_aerodigestive_tract(1)	11		all_lung(41;1.19e-13)|Lung NSC(41;3.16e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00872)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		all cancers(43;9.44e-26)|Epithelial(43;2.64e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.66e-11)|Colorectal(24;6.03e-05)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.000331)|COAD - Colon adenocarcinoma(29;0.000427)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00924)|READ - Rectum adenocarcinoma(43;0.165)		GCCCATATTGCGATGATAGTC	0.383													3	64					1	1	1	1	0	A	186085257	C	A	186085257	3	1	202	1	0	0	0	0	1	0	0	0	8274	768	27	5	209	5	KIAA1430	4	186085257	Missense_Mutation	SNP	C	TCGA-FG-8182-01A-11D-2253-08		186085257	5069019	11	25076											
BRD8	10902	broad.mit.edu	37	5	137501597	137501597	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-8182-01A-11D-2253-08	TCGA-FG-8182-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aeaab9f-4459-4be8-91e7-e0746cbd671c	705290ff-c3b5-4e53-956d-05fc3825ccb7	g.chr5:137501597T>C	ENST00000254900.5	-	11	1569	c.1198A>G	c.(1198-1200)Atg>Gtg	p.M400V	BRD8_ENST00000455658.2_Missense_Mutation_p.M359V|BRD8_ENST00000411594.2_Missense_Mutation_p.M403V|BRD8_ENST00000230901.5_Missense_Mutation_p.M473V|BRD8_ENST00000402931.1_Missense_Mutation_p.M400V	NM_139199.1	NP_631938	Q9H0E9	BRD8_HUMAN	bromodomain containing 8	400					cell surface receptor linked signaling pathway|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription from RNA polymerase II promoter	mitochondrion|NuA4 histone acetyltransferase complex	sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(3)|urinary_tract(1)	35			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			GCAATATCCATCTTCTCAGCC	0.458													6	52					0	0	1	0	0	C	137501597	T	C	137501597	3	2	202	1	0	0	0	0	1	0	0	0	1508	1435	50	3	2641	3	BRD8	5	137501597	Missense_Mutation	SNP	T	TCGA-FG-8182-01A-11D-2253-08		137501597	43413663	12	25077											
CD109	135228	broad.mit.edu	37	6	74491008	74491008	+	Silent	SNP	T	T	C			TCGA-FG-8182-01A-11D-2253-08	TCGA-FG-8182-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aeaab9f-4459-4be8-91e7-e0746cbd671c	705290ff-c3b5-4e53-956d-05fc3825ccb7	g.chr6:74491008T>C	ENST00000437994.2	+	17	2360	c.1929T>C	c.(1927-1929)gaT>gaC	p.D643D	CD109_ENST00000422508.2_Silent_p.D566D|CD109_ENST00000287097.5_Silent_p.D643D	NM_001159587.1|NM_133493.3	NP_001153059.1|NP_598000.2	Q6YHK3	CD109_HUMAN	CD109 molecule	643	Bait region (approximate) (By similarity).					anchored to membrane|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TATTGACAGATGCAAACCTCA	0.323													5	33					0	0	1	0	0	C	74491008	T	C	74491008	2	2	202	1	0	0	0	0	0	0	0	1	2985	1461	51	3		3	CD109	6	74491008	Silent	SNP	T	TCGA-FG-8182-01A-11D-2253-08		74491008	96624059	13	25078											
MDN1	23195	broad.mit.edu	37	6	90397120	90397120	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-8182-01A-11D-2253-08	TCGA-FG-8182-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aeaab9f-4459-4be8-91e7-e0746cbd671c	705290ff-c3b5-4e53-956d-05fc3825ccb7	g.chr6:90397120C>T	ENST00000369393.3	-	68	11508	c.11393G>A	c.(11392-11394)cGg>cAg	p.R3798Q	MDN1_ENST00000428876.1_Missense_Mutation_p.R3798Q			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	3798					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		AAGATGTTTCCGCAAAGACAA	0.403													7	50					0	0	1	0	0	T	90397120	C	T	90397120	3	4	202	1	0	0	0	0	1	0	0	0	9465	652	23	1	5537	1	MDN1	6	90397120	Missense_Mutation	SNP	C	TCGA-FG-8182-01A-11D-2253-08	15906112	90397120	80717947	14	25079											
HIVEP2	3097	broad.mit.edu	37	6	143095693	143095693	+	Silent	SNP	T	T	C			TCGA-FG-8182-01A-11D-2253-08	TCGA-FG-8182-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aeaab9f-4459-4be8-91e7-e0746cbd671c	705290ff-c3b5-4e53-956d-05fc3825ccb7	g.chr6:143095693T>C	ENST00000367603.2	-	5	925	c.183A>G	c.(181-183)gcA>gcG	p.A61A	HIVEP2_ENST00000367604.1_Silent_p.A61A|HIVEP2_ENST00000012134.2_Silent_p.A61A	NM_006734.3	NP_006725.3	P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	61					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		CAAACAGTTGTGCTGATGCTG	0.498													27	187					0	0	1	0	0	C	143095693	T	C	143095693	2	2	202	1	0	0	0	0	0	0	0	1	7228	1683	59	3		3	HIVEP2	6	143095693	Silent	SNP	T	TCGA-FG-8182-01A-11D-2253-08	52698573	143095693	28019374	15	25080											
UNC93A	54346	broad.mit.edu	37	6	167728856	167728856	+	Silent	SNP	C	C	T			TCGA-FG-8182-01A-11D-2253-08	TCGA-FG-8182-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aeaab9f-4459-4be8-91e7-e0746cbd671c	705290ff-c3b5-4e53-956d-05fc3825ccb7	g.chr6:167728856C>T	ENST00000230256.3	+	8	1465	c.1290C>T	c.(1288-1290)tgC>tgT	p.C430C	UNC93A_ENST00000366829.2_Silent_p.C388C	NM_018974.3	NP_061847.2	Q86WB7	UN93A_HUMAN	unc-93 homolog A (C. elegans)	430						integral to membrane|plasma membrane				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	40		Breast(66;7.62e-05)|Ovarian(120;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		TTGTGGAGTGCGTGGAGTCCA	0.542													27	323					0	0	1	0	0	T	167728856	C	T	167728856	2	4	202	1	0	0	0	0	0	0	0	1	17056	776	27	1		1	UNC93A	6	167728856	Silent	SNP	C	TCGA-FG-8182-01A-11D-2253-08	24633163	167728856	3386211	16	25081											
FBXL18	80028	broad.mit.edu	37	7	5540405	5540405	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-8182-01A-11D-2253-08	TCGA-FG-8182-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aeaab9f-4459-4be8-91e7-e0746cbd671c	705290ff-c3b5-4e53-956d-05fc3825ccb7	g.chr7:5540405T>C	ENST00000382368.3	-	3	1618	c.1495A>G	c.(1495-1497)Atg>Gtg	p.M499V	FBXL18_ENST00000453700.3_Missense_Mutation_p.M499V	NM_024963.4	NP_079239.3	Q96ME1	FXL18_HUMAN	F-box and leucine-rich repeat protein 18	499									FBXL18/RNF216(2)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)	21		Ovarian(82;0.0607)		UCEC - Uterine corpus endometrioid carcinoma (126;0.181)|OV - Ovarian serous cystadenocarcinoma(56;3.64e-13)		TTGCGGGGCATGGCGGAGGAG	0.672													16	63					0	0	1	0	0	C	5540405	T	C	5540405	3	2	202	1	0	0	0	0	1	0	0	0	5747	1464	51	3	673	3	FBXL18	7	5540405	Missense_Mutation	SNP	T	TCGA-FG-8182-01A-11D-2253-08		5540405	153598258	17	25082											
TRPV6	55503	broad.mit.edu	37	7	142575445	142575445	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-8182-01A-11D-2253-08	TCGA-FG-8182-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aeaab9f-4459-4be8-91e7-e0746cbd671c	705290ff-c3b5-4e53-956d-05fc3825ccb7	g.chr7:142575445G>A	ENST00000359396.3	-	3	553	c.308C>T	c.(307-309)cCg>cTg	p.P103L	RP11-114L10.2_ENST00000438839.1_RNA	NM_018646.3	NP_061116	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel, subfamily V, member 6	103	Interaction with calmodulin (By similarity).				regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					GACCAGCTCCGGGGCAGCCTC	0.577													11	168					0	0	1	0	0	A	142575445	G	A	142575445	3	1	202	1	0	0	0	0	1	0	0	0	16661	1116	39	1	1921	1	TRPV6	7	142575445	Missense_Mutation	SNP	G	TCGA-FG-8182-01A-11D-2253-08	137035040	142575445	16563218	18	25083											
CNTLN	54875	broad.mit.edu	37	9	17236520	17236520	+	Silent	SNP	G	G	A			TCGA-FG-8182-01A-11D-2253-08	TCGA-FG-8182-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aeaab9f-4459-4be8-91e7-e0746cbd671c	705290ff-c3b5-4e53-956d-05fc3825ccb7	g.chr9:17236520G>A	ENST00000380647.3	+	5	867	c.783G>A	c.(781-783)ctG>ctA	p.L261L	CNTLN_ENST00000425824.1_Silent_p.L261L|CNTLN_ENST00000380641.4_Silent_p.L261L|CNTLN_ENST00000262360.5_Silent_p.L261L			Q9NXG0	CNTLN_HUMAN	centlein, centrosomal protein	261						centriole|membrane	two-component sensor activity			breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53				GBM - Glioblastoma multiforme(50;6.14e-10)		TAAATGACCTGGAGAAATTGA	0.368													9	44					0	0	1	0	0	A	17236520	G	A	17236520	2	1	202	1	0	0	0	0	0	0	0	1	3662	1335	47	2		2	CNTLN	9	17236520	Silent	SNP	G	TCGA-FG-8182-01A-11D-2253-08		17236520	123976911	19	25084											
TLR4	7099	broad.mit.edu	37	9	120475609	120475609	+	Silent	SNP	A	A	G			TCGA-FG-8182-01A-11D-2253-08	TCGA-FG-8182-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aeaab9f-4459-4be8-91e7-e0746cbd671c	705290ff-c3b5-4e53-956d-05fc3825ccb7	g.chr9:120475609A>G	ENST00000355622.6	+	3	1304	c.1203A>G	c.(1201-1203)ctA>ctG	p.L401L	TLR4_ENST00000472304.1_3'UTR|TLR4_ENST00000394487.4_Silent_p.L361L	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	401					activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						CAACCAGCCTAAAGTATTTAG	0.388													3	19					0	0	1	0	0	G	120475609	A	G	120475609	2	3	202	1	0	0	0	0	0	0	0	1	16013	349	13	3		3	TLR4	9	120475609	Silent	SNP	A	TCGA-FG-8182-01A-11D-2253-08	103239089	120475609	20737822	20	25085											
PPRC1	23082	broad.mit.edu	37	10	103906760	103906760	+	Missense_Mutation	SNP	G	G	C			TCGA-FG-8182-01A-11D-2253-08	TCGA-FG-8182-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aeaab9f-4459-4be8-91e7-e0746cbd671c	705290ff-c3b5-4e53-956d-05fc3825ccb7	g.chr10:103906760G>C	ENST00000278070.2	+	9	4050	c.4011G>C	c.(4009-4011)ttG>ttC	p.L1337F	PPRC1_ENST00000489648.1_Intron|PPRC1_ENST00000370012.1_Missense_Mutation_p.L304F|PPRC1_ENST00000413464.2_Intron	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	1337					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		TCTTGTCCTTGGGCCCAGCTG	0.607													3	71					0	0	1	0	0	C	103906760	G	C	103906760	3	2	202	1	0	0	0	0	1	0	0	0	12459	1339	47	5	4045	5	PPRC1	10	103906760	Missense_Mutation	SNP	G	TCGA-FG-8182-01A-11D-2253-08		103906760	31627987	21	25086											
FERMT3	83706	broad.mit.edu	37	11	63988497	63988497	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-8182-01A-11D-2253-08	TCGA-FG-8182-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aeaab9f-4459-4be8-91e7-e0746cbd671c	705290ff-c3b5-4e53-956d-05fc3825ccb7	g.chr11:63988497C>T	ENST00000279227.5	+	13	1662	c.1567C>T	c.(1567-1569)Cgg>Tgg	p.R523W	FERMT3_ENST00000345728.5_Missense_Mutation_p.R519W	NM_178443.2	NP_848537.1	Q86UX7	URP2_HUMAN	fermitin family member 3	523	FERM.				integrin activation|leukocyte cell-cell adhesion|platelet aggregation|regulation of cell-cell adhesion mediated by integrin	cell junction|cell projection|podosome	integrin binding			breast(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	18						GCTCACCCCACGGATCCTGGA	0.652													7	104					0	0	1	0	0	T	63988497	C	T	63988497	3	4	202	1	0	0	0	0	1	0	0	0	5852	527	19	1	1613	1	FERMT3	11	63988497	Missense_Mutation	SNP	C	TCGA-FG-8182-01A-11D-2253-08		63988497	71018019	22	25087											
EXPH5	23086	broad.mit.edu	37	11	108381318	108381318	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-8182-01A-11D-2253-08	TCGA-FG-8182-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aeaab9f-4459-4be8-91e7-e0746cbd671c	705290ff-c3b5-4e53-956d-05fc3825ccb7	g.chr11:108381318C>T	ENST00000265843.4	-	6	5026	c.4916G>A	c.(4915-4917)tGc>tAc	p.C1639Y	EXPH5_ENST00000428840.1_Missense_Mutation_p.C1563Y|EXPH5_ENST00000443411.1_Missense_Mutation_p.C1451Y|EXPH5_ENST00000525344.1_Missense_Mutation_p.C1632Y	NM_015065.2	NP_055880	Q149M6	Q149M6_HUMAN	exophilin 5	1639					intracellular protein transport		Rab GTPase binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		CAGTGGGTTGCACTCCACTGT	0.483													48	37					0	0	1	0	0	T	108381318	C	T	108381318	3	4	202	1	0	0	0	0	1	0	0	0	5350	710	25	2	1057	2	EXPH5	11	108381318	Missense_Mutation	SNP	C	TCGA-FG-8182-01A-11D-2253-08	44392821	108381318	26625198	23	25088											
LRIG3	121227	broad.mit.edu	37	12	59276787	59276787	+	Silent	SNP	G	G	A			TCGA-FG-8182-01A-11D-2253-08	TCGA-FG-8182-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aeaab9f-4459-4be8-91e7-e0746cbd671c	705290ff-c3b5-4e53-956d-05fc3825ccb7	g.chr12:59276787G>A	ENST00000320743.3	-	12	1630	c.1344C>T	c.(1342-1344)tgC>tgT	p.C448C	LRIG3_ENST00000379141.4_Silent_p.C388C	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	leucine-rich repeats and immunoglobulin-like domains 3	448	LRRCT.					integral to membrane			LRIG3/ROS1(2)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48			GBM - Glioblastoma multiforme(1;1.17e-18)			GCTGGCAATCGCACAAAAGGC	0.403			T	ROS1	NSCLC								3	57					0	0	1	0	0	A	59276787	G	A	59276787	2	1	202	1	0	0	0	0	0	0	0	1	8991	1079	38	1		1	LRIG3	12	59276787	Silent	SNP	G	TCGA-FG-8182-01A-11D-2253-08		59276787	74575108	24	25089											
CUX2	23316	broad.mit.edu	37	12	111758235	111758237	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-FG-8182-01A-11D-2253-08	TCGA-FG-8182-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aeaab9f-4459-4be8-91e7-e0746cbd671c	705290ff-c3b5-4e53-956d-05fc3825ccb7	g.chr12:111758235_111758237delTCC	ENST00000261726.6	+	17	2576_2578	c.2422_2424delTCC	c.(2422-2424)tccdel	p.S813del		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	813	Poly-Ser.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						GCCCTCGCTGTCCTCCTCCTCCT	0.749													8	105	---	---	---	---						-	111758237	TCC	-	111758235	7	5	202	1	0	1	0	1	0	0	0	0	4088	1667	58	0	2488	0	CUX2	12	111758235	In_Frame_Del	DEL	TCC	TCGA-FG-8182-01A-11D-2253-08	52481448	111758235	22093660	25	25090											
FLRT2	23768	broad.mit.edu	37	14	86089274	86089274	+	Silent	SNP	C	C	T	rs146568257	byFrequency	TCGA-FG-8182-01A-11D-2253-08	TCGA-FG-8182-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aeaab9f-4459-4be8-91e7-e0746cbd671c	705290ff-c3b5-4e53-956d-05fc3825ccb7	g.chr14:86089274C>T	ENST00000330753.4	+	2	2183	c.1416C>T	c.(1414-1416)agC>agT	p.S472S	FLRT2_ENST00000554746.1_Silent_p.S472S	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	472	Fibronectin type-III.				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		GCATAGTCAGCGGTGAGAAGC	0.517													40	90					0	0	1	0	0	T	86089274	C	T	86089274	2	4	202	1	0	0	0	0	0	0	0	1	5972	767	27	1		1	FLRT2	14	86089274	Silent	SNP	C	TCGA-FG-8182-01A-11D-2253-08		86089274	21260266	26	25091											
TCF12	6938	broad.mit.edu	37	15	57565437	57565438	+	Frame_Shift_Ins	INS	-	-	TTGAC			TCGA-FG-8182-01A-11D-2253-08	TCGA-FG-8182-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aeaab9f-4459-4be8-91e7-e0746cbd671c	705290ff-c3b5-4e53-956d-05fc3825ccb7	g.chr15:57565437_57565438insTTGAC	ENST00000267811.5	+	18	2187_2188	c.1883_1884insTTGAC	c.(1882-1887)cttagtfs	p.S629fs	TCF12_ENST00000438423.2_Frame_Shift_Ins_p.S653fs|TCF12_ENST00000343827.3_Frame_Shift_Ins_p.S459fs|TCF12_ENST00000543579.1_Frame_Shift_Ins_p.S483fs|TCF12_ENST00000559703.1_Frame_Shift_Ins_p.S286fs|TCF12_ENST00000559710.1_Frame_Shift_Ins_p.S263fs|TCF12_ENST00000537840.1_Frame_Shift_Ins_p.S393fs|TCF12_ENST00000452095.2_Frame_Shift_Ins_p.S649fs|TCF12_ENST00000333725.5_Frame_Shift_Ins_p.S653fs|TCF12_ENST00000557843.1_Frame_Shift_Ins_p.S629fs	NM_003205.3|NM_207038.1	NP_003196.1|NP_996921.1	Q99081	HTF4_HUMAN	transcription factor 12	629	Helix-loop-helix motif.				immune response|muscle organ development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity		TCF12/NR4A3(2)	breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	36		Colorectal(260;0.0907)		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)		GCAGTCATCCTTAGTCTAGAAC	0.441			T	TEC	extraskeletal myxoid chondrosarcoma								9	51	---	---	---	---						TTGAC	57565438	-	TTGAC	57565437	7	5	202	1	0	1	1	0	0	0	0	0	15747	1609	56	0	2098	0	TCF12	15	57565437	Frame_Shift_Ins	INS	-	TCGA-FG-8182-01A-11D-2253-08		57565437	44965955	27	25092											
TP53	7157	broad.mit.edu	37	17	7574012	7574012	+	Nonsense_Mutation	SNP	C	C	A	rs17882252		TCGA-FG-8182-01A-11D-2253-08	TCGA-FG-8182-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aeaab9f-4459-4be8-91e7-e0746cbd671c	705290ff-c3b5-4e53-956d-05fc3825ccb7	g.chr17:7574012C>A	ENST00000269305.4	-	10	1204	c.1015G>T	c.(1015-1017)Gag>Tag	p.E339*	TP53_ENST00000445888.2_Nonsense_Mutation_p.E339*|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_3'UTR|TP53_ENST00000420246.2_3'UTR|TP53_ENST00000359597.4_Intron	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	339	Interaction with CARM1.|Interaction with HIPK1 (By similarity).|Interaction with HIPK2.|Oligomerization.		E -> K (in a sporadic cancer; somatic mutation; dbSNP:rs17882252).|E -> Q (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.E339*(14)|p.0?(8)|p.E339fs*8(2)|p.E339Q(1)|p.?(1)|p.F338fs*6(1)|p.F338_E339>L(1)|p.E339fs*13(1)|p.I332fs*5(1)|p.E339K(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)		CGGAACATCTCGAAGCGCTCA	0.537		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)			9	40					7.03913e-09	7.83903e-09	1	1	0	A	7574012	C	A	7574012	4	1	202	1	0	0	0	0	0	1	0	0	16442	893	31	5	174	5	TP53	17	7574012	Nonsense_Mutation	SNP	C	TCGA-FG-8182-01A-11D-2253-08		7574012	73621198	28	25093											
TP53	7157	broad.mit.edu	37	17	7579311	7579311	+	Splice_Site	SNP	C	C	T	rs68140816		TCGA-FG-8182-01A-11D-2253-08	TCGA-FG-8182-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aeaab9f-4459-4be8-91e7-e0746cbd671c	705290ff-c3b5-4e53-956d-05fc3825ccb7	g.chr17:7579311C>T	ENST00000420246.2	-	4	508		c.e4+1		TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000269305.4_Splice_Site	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53						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.?(26)|p.0?(8)|p.V73fs*9(1)|p.Y126fs*11(1)|p.P13fs*18(1)|p.T125_Y126insX(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)		GGGCAACTGACCGTGCAAGTC	0.532		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)			41	48					0	0	1	0	0	T	7579311	C	T	7579311	5	4	202	1	0	0	0	0	0	0	1	0	16442	521	18	2	926	2	TP53	17	7579311	Splice_Site	SNP	C	TCGA-FG-8182-01A-11D-2253-08	5299	7579311	73615899	29	25094											
CWC25	54883	broad.mit.edu	37	17	36958970	36958970	+	Silent	SNP	C	C	T			TCGA-FG-8182-01A-11D-2253-08	TCGA-FG-8182-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aeaab9f-4459-4be8-91e7-e0746cbd671c	705290ff-c3b5-4e53-956d-05fc3825ccb7	g.chr17:36958970C>T	ENST00000225428.5	-	9	1443	c.1146G>A	c.(1144-1146)cgG>cgA	p.R382R	CWC25_ENST00000536127.1_Silent_p.R319R	NM_017748.3	NP_060218.1	Q9NXE8	CWC25_HUMAN	CWC25 spliceosome-associated protein homolog (S. cerevisiae)											central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	14						ACTTCCCATCCCGGGAGTCCA	0.547													7	92					0	0	1	0	0	T	36958970	C	T	36958970	2	4	202	1	0	0	0	0	0	0	0	1	4092	610	22	2		2	CWC25	17	36958970	Silent	SNP	C	TCGA-FG-8182-01A-11D-2253-08	29379659	36958970	44236240	30	25095											
MUC16	94025	broad.mit.edu	37	19	8987333	8987333	+	Splice_Site	SNP	G	G	A			TCGA-FG-8182-01A-11D-2253-08	TCGA-FG-8182-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aeaab9f-4459-4be8-91e7-e0746cbd671c	705290ff-c3b5-4e53-956d-05fc3825ccb7	g.chr19:8987333G>A	ENST00000397910.4	-	68	41957	c.41754C>T	c.(41752-41754)acC>acT	p.T13918T	MUC16_ENST00000380951.5_Splice_Site_p.T559T	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13921				Missing (in Ref. 3; AAK74120).	cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.T13918T(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGACCACCCCGGCTAGGGCAG	0.597													13	95					0	0	1	0	0	A	8987333	G	A	8987333	5	1	202	1	0	0	0	0	0	0	1	0	10021	1130	39	1	1837	1	MUC16	19	8987333	Splice_Site	SNP	G	TCGA-FG-8182-01A-11D-2253-08		8987333	50141650	31	25096											
SERTAD1	29950	broad.mit.edu	37	19	40929409	40929411	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-FG-8182-01A-11D-2253-08	TCGA-FG-8182-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aeaab9f-4459-4be8-91e7-e0746cbd671c	705290ff-c3b5-4e53-956d-05fc3825ccb7	g.chr19:40929409_40929411delCTC	ENST00000357949.4	-	2	201_203	c.43_45delGAG	c.(43-45)gagdel	p.E15del		NM_013376.3	NP_037508.2	Q9UHV2	SRTD1_HUMAN	SERTA domain containing 1	15					positive regulation of cell proliferation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent					endometrium(2)|lung(1)|prostate(1)|skin(1)	5			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GAGGTTCCTTCTCCTCCTCCTCC	0.557													7	133	---	---	---	---						-	40929411	CTC	-	40929409	7	5	202	1	0	1	0	1	0	0	0	0	14174	912	32	0	669	0	SERTAD1	19	40929409	In_Frame_Del	DEL	CTC	TCGA-FG-8182-01A-11D-2253-08	31942076	40929409	18199574	32	25097											
PSG8	440533	broad.mit.edu	37	19	43262370	43262370	+	Missense_Mutation	SNP	C	C	A			TCGA-FG-8182-01A-11D-2253-08	TCGA-FG-8182-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aeaab9f-4459-4be8-91e7-e0746cbd671c	705290ff-c3b5-4e53-956d-05fc3825ccb7	g.chr19:43262370C>A	ENST00000404209.4	-	3	589	c.493G>T	c.(493-495)Gtg>Ttg	p.V165L	PSG8_ENST00000401467.2_Intron|PSG8_ENST00000600709.1_5'UTR|PSG8_ENST00000406636.3_Missense_Mutation_p.V43L|PSG8_ENST00000306511.4_Missense_Mutation_p.V165L	NM_001130167.1	NP_001123639.1	Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8	165	Ig-like C2-type 1.					extracellular region				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				GTTAAGCTCACAGCCTCCATG	0.537													18	223					2.4624e-09	2.80599e-09	1	1	0	A	43262370	C	A	43262370	3	1	202	1	0	0	0	0	1	0	0	0	12710	478	17	5	820	5	PSG8	19	43262370	Missense_Mutation	SNP	C	TCGA-FG-8182-01A-11D-2253-08	2332961	43262370	15866613	33	25098											
ERCC1	2067	broad.mit.edu	37	19	45916941	45916941	+	Silent	SNP	A	A	T			TCGA-FG-8182-01A-11D-2253-08	TCGA-FG-8182-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aeaab9f-4459-4be8-91e7-e0746cbd671c	705290ff-c3b5-4e53-956d-05fc3825ccb7	g.chr19:45916941A>T	ENST00000300853.3	-	9	1428	c.837T>A	c.(835-837)ccT>ccA	p.P279P	ERCC1_ENST00000589165.1_Silent_p.P279P|ERCC1_ENST00000013807.5_Silent_p.P279P|ERCC1_ENST00000588738.1_5'UTR|ERCC1_ENST00000591636.1_Intron|ERCC1_ENST00000423698.2_Silent_p.P207P|ERCC1_ENST00000340192.7_Silent_p.P255P	NM_001983.3	NP_001974.1	P07992	ERCC1_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 1 (includes overlapping antisense sequence)	279					mitotic recombination|negative regulation of telomere maintenance|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|nucleotide-excision repair, DNA incision, 5'-to lesion|response to oxidative stress|transcription-coupled nucleotide-excision repair	cytoplasm|nuclear chromosome, telomeric region|nucleoplasm|nucleotide-excision repair complex	damaged DNA binding|endonuclease activity|protein C-terminus binding|protein domain specific binding|single-stranded DNA binding			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|skin(1)	15		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0247)		TTACTTTCTGAGGGCCCAGGC	0.522								Nucleotide excision repair (NER)					12	98					0	0	1	0	0	T	45916941	A	T	45916941	2	4	202	1	0	0	0	0	0	0	0	1	5240	291	11	5		5	ERCC1	19	45916941	Silent	SNP	A	TCGA-FG-8182-01A-11D-2253-08	2654571	45916941	13212042	34	25099											
LILRA1	11024	broad.mit.edu	37	19	55112237	55112237	+	Silent	SNP	C	C	T			TCGA-FG-8182-01A-11D-2253-08	TCGA-FG-8182-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aeaab9f-4459-4be8-91e7-e0746cbd671c	705290ff-c3b5-4e53-956d-05fc3825ccb7	g.chr19:55112237C>T	ENST00000453777.1	+	8	995	c.825C>T	c.(823-825)ctC>ctT	p.L275L	LILRA1_ENST00000473156.1_3'UTR|LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000448689.1_Intron|LILRB1_ENST00000396321.2_Intron|LILRA1_ENST00000251372.3_Silent_p.L475L	NM_001278318.1	NP_001265247.1	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1	475	Ig-like C2-type 3.				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		TGGTGGTCCTCGGGATTCTGC	0.562													6	69					0	0	1	0	0	T	55112237	C	T	55112237	2	4	202	1	0	0	0	0	0	0	0	1	8824	871	31	1		1	LILRA1	19	55112237	Silent	SNP	C	TCGA-FG-8182-01A-11D-2253-08	9195296	55112237	4016746	35	25100											
C20orf26	26074	broad.mit.edu	37	20	20123549	20123549	+	Missense_Mutation	SNP	A	A	T			TCGA-FG-8182-01A-11D-2253-08	TCGA-FG-8182-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aeaab9f-4459-4be8-91e7-e0746cbd671c	705290ff-c3b5-4e53-956d-05fc3825ccb7	g.chr20:20123549A>T	ENST00000245957.5	+	9	984	c.908A>T	c.(907-909)gAg>gTg	p.E303V	C20orf26_ENST00000377306.1_Missense_Mutation_p.E303V|C20orf26_ENST00000389656.3_5'UTR|C20orf26_ENST00000377309.2_5'UTR|C20orf26_ENST00000451767.2_Missense_Mutation_p.E303V	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN	chromosome 20 open reading frame 26	303										NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		ATAGTCGAGGAGTTGCAGGAA	0.488													4	13					0	0	1	0	0	T	20123549	A	T	20123549	3	4	202	1	0	0	0	0	1	0	0	0	2120	304	11	5	938	5	C20orf26	20	20123549	Missense_Mutation	SNP	A	TCGA-FG-8182-01A-11D-2253-08		20123549	42901971	36	25101											
ZNF217	7764	broad.mit.edu	37	20	52192452	52192452	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-8182-01A-11D-2253-08	TCGA-FG-8182-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aeaab9f-4459-4be8-91e7-e0746cbd671c	705290ff-c3b5-4e53-956d-05fc3825ccb7	g.chr20:52192452T>C	ENST00000371471.2	-	4	3276	c.2851A>G	c.(2851-2853)Atc>Gtc	p.I951V	ZNF217_ENST00000302342.3_Missense_Mutation_p.I951V			O75362	ZN217_HUMAN	zinc finger protein 217	951					negative regulation of transcription, DNA-dependent	histone deacetylase complex	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)			AGTGATGTGATGCCTCTGACC	0.542													6	76					0	0	1	0	0	C	52192452	T	C	52192452	3	2	202	1	0	0	0	0	1	0	0	0	17830	1464	51	3	303	3	ZNF217	20	52192452	Missense_Mutation	SNP	T	TCGA-FG-8182-01A-11D-2253-08	32068903	52192452	10833068	37	25102											
ADSL	158	broad.mit.edu	37	22	40762494	40762494	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-8182-01A-11D-2253-08	TCGA-FG-8182-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aeaab9f-4459-4be8-91e7-e0746cbd671c	705290ff-c3b5-4e53-956d-05fc3825ccb7	g.chr22:40762494G>A	ENST00000216194.7	+	13	1479	c.1423G>A	c.(1423-1425)Gtg>Atg	p.V475M	ADSL_ENST00000342312.6_Missense_Mutation_p.V416M|ADSL_ENST00000454266.2_Missense_Mutation_p.V489M	NM_000026.2	NP_000017.1	P30566	PUR8_HUMAN	adenylosuccinate lyase	475					AMP biosynthetic process|protein tetramerization|purine base metabolic process	cytosol	(S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity|N6-(1,2-dicarboxyethyl)AMP AMP-lyase (fumarate-forming) activity			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(2)|ovary(1)|prostate(1)	19						ATATGAAAGCGTGATGAAGGT	0.358													4	47					0	0	1	0	0	A	40762494	G	A	40762494	3	1	202	1	0	0	0	0	1	0	0	0	345	1145	40	1	1473	1	ADSL	22	40762494	Missense_Mutation	SNP	G	TCGA-FG-8182-01A-11D-2253-08		40762494	10542072	38	25103											
CCDC22	28952	broad.mit.edu	37	X	49105641	49105641	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-8182-01A-11D-2253-08	TCGA-FG-8182-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aeaab9f-4459-4be8-91e7-e0746cbd671c	705290ff-c3b5-4e53-956d-05fc3825ccb7	g.chrX:49105641C>T	ENST00000376227.3	+	14	1723	c.1553C>T	c.(1552-1554)aCg>aTg	p.T518M		NM_014008.3	NP_054727.1	O60826	CCD22_HUMAN	coiled-coil domain containing 22	518										NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1)	18						TTGTCTGATACGAAGGAGCTT	0.577													6	29					0	0	1	0	0	T	49105641	C	T	49105641	3	4	202	1	0	0	0	0	1	0	0	0	2816	536	19	1	1607	1	CCDC22	23	49105641	Missense_Mutation	SNP	C	TCGA-FG-8182-01A-11D-2253-08		49105641	106164919	39	25104											
VSIG4	11326	broad.mit.edu	37	X	65253475	65253475	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-8182-01A-11D-2253-08	TCGA-FG-8182-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aeaab9f-4459-4be8-91e7-e0746cbd671c	705290ff-c3b5-4e53-956d-05fc3825ccb7	g.chrX:65253475G>A	ENST00000455586.2	-	2	379	c.253C>T	c.(253-255)Cgc>Tgc	p.R85C	VSIG4_ENST00000374737.4_Missense_Mutation_p.R85C|VSIG4_ENST00000412866.2_Missense_Mutation_p.R85C	NM_001184830.1	NP_001171759.1	Q9Y279	VSIG4_HUMAN	V-set and immunoglobulin domain containing 4	85	Ig-like 1.				complement activation, alternative pathway	integral to membrane	protein binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						ACATGCAGGCGGCCCTGGTAC	0.547													17	59					0	0	1	0	0	A	65253475	G	A	65253475	3	1	202	1	0	0	0	0	1	0	0	0	17285	1116	39	1	978	1	VSIG4	23	65253475	Missense_Mutation	SNP	G	TCGA-FG-8182-01A-11D-2253-08	16147834	65253475	90017085	40	25105											
ATRX	546	broad.mit.edu	37	X	76845302	76845302	+	Splice_Site	SNP	A	A	G			TCGA-FG-8182-01A-11D-2253-08	TCGA-FG-8182-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aeaab9f-4459-4be8-91e7-e0746cbd671c	705290ff-c3b5-4e53-956d-05fc3825ccb7	g.chrX:76845302A>G	ENST00000373344.5	-	27	6432		c.e27+1		ATRX_ENST00000480283.1_Splice_Site|ATRX_ENST00000395603.3_Splice_Site	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked						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)	TTTGTAGCTCACCTTTATAAA	0.328			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						3	8					0	0	1	0	0	G	76845302	A	G	76845302	5	3	202	1	0	0	0	0	0	0	1	0	1206	173	6	3	1295	3	ATRX	23	76845302	Splice_Site	SNP	A	TCGA-FG-8182-01A-11D-2253-08	11591827	76845302	78425258	41	25106											
ATRX	546	broad.mit.edu	37	X	76890105	76890106	+	Translation_Start_Site	INS	-	-	CATA			TCGA-FG-8182-01A-11D-2253-08	TCGA-FG-8182-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aeaab9f-4459-4be8-91e7-e0746cbd671c	705290ff-c3b5-4e53-956d-05fc3825ccb7	g.chrX:76890105_76890106insCATA	ENST00000480283.1	-	0	5125_5126				ATRX_ENST00000395603.3_Frame_Shift_Ins_p.MG1558fs|ATRX_ENST00000373344.5_Frame_Shift_Ins_p.MG1596fs			P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked						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)	TTACCAAGGCCCATACAGTGGG	0.371			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						16	61	---	---	---	---						CATA	76890106	-	CATA	76890105	6	5	202	1	0	1	1	0	0	0	0	0	1206	623	22	0		0	ATRX	23	76890105	Translation_Start_Site	INS	-	TCGA-FG-8182-01A-11D-2253-08	44803	76890105	78380455	42	25107											
ATRX	546	broad.mit.edu	37	X	76938654	76938655	+	Frame_Shift_Ins	INS	-	-	T			TCGA-FG-8182-01A-11D-2253-08	TCGA-FG-8182-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aeaab9f-4459-4be8-91e7-e0746cbd671c	705290ff-c3b5-4e53-956d-05fc3825ccb7	g.chrX:76938654_76938655insT	ENST00000373344.5	-	9	2307_2308	c.2093_2094insA	c.(2092-2094)aagfs	p.K698fs	ATRX_ENST00000395603.3_Frame_Shift_Ins_p.K660fs|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	698					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)	TACGCTTATCCTTTTTTCTCAC	0.356			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						9	64	---	---	---	---						T	76938655	-	T	76938654	7	5	202	1	0	1	1	0	0	0	0	0	1206	680	24	0	5492	0	ATRX	23	76938654	Frame_Shift_Ins	INS	-	TCGA-FG-8182-01A-11D-2253-08	48549	76938654	78331906	43	25108											
SRRM1	10250	broad.mit.edu	37	1	24995840	24995840	+	Silent	SNP	T	T	C			TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr1:24995840T>C	ENST00000323848.9	+	14	2281	c.1966T>C	c.(1966-1968)Tta>Cta	p.L656L	SRRM1_ENST00000479034.1_3'UTR|SRRM1_ENST00000374389.4_Silent_p.L665L|SRRM1_ENST00000447431.2_Silent_p.L668L	NM_005839.3	NP_005830.2	Q8IYB3	SRRM1_HUMAN	serine/arginine repetitive matrix 1	656	Arg-rich.|Necessary for speckles and matrix localization.|Pro-rich.|Ser-rich.				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nuclear matrix|nuclear speck	DNA binding|protein binding|RNA binding			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	36		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)		TTCACCTTCATTATCATCCAA	0.567													3	53					0	0	1	0	0	C	24995840	T	C	24995840	2	2	203	1	0	0	0	0	0	0	0	1	15224	1490	52	3		3	SRRM1	1	24995840	Silent	SNP	T	TCGA-FG-8185-01A-11D-2253-08		24995840	224254781	1	25109											
AMIGO1	57463	broad.mit.edu	37	1	110050585	110050585	+	Missense_Mutation	SNP	G	G	C			TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr1:110050585G>C	ENST00000369864.4	-	2	1299	c.950C>G	c.(949-951)aCa>aGa	p.T317R	AMIGO1_ENST00000369862.1_Missense_Mutation_p.T317R			Q86WK6	AMGO1_HUMAN	adhesion molecule with Ig-like domain 1	317	Ig-like C2-type.				axonal fasciculation|heterophilic cell-cell adhesion|homophilic cell adhesion|myelination|positive regulation of axonogenesis	axon|integral to membrane				autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Colorectal(144;0.0129)|Lung(183;0.0182)|Epithelial(280;0.046)|all cancers(265;0.0492)|READ - Rectum adenocarcinoma(129;0.0689)|LUSC - Lung squamous cell carcinoma(189;0.227)		CACACTCACTGTGCCATTGGT	0.512													7	158					0	0	1	0	0	C	110050585	G	C	110050585	3	2	203	1	0	0	0	0	1	0	0	0	571	1377	48	5	535	5	AMIGO1	1	110050585	Missense_Mutation	SNP	G	TCGA-FG-8185-01A-11D-2253-08	85054745	110050585	139200036	2	25110											
AMPD1	270	broad.mit.edu	37	1	115216305	115216305	+	Silent	SNP	G	G	A			TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr1:115216305G>A	ENST00000369538.3	-	14	2174	c.2127C>T	c.(2125-2127)tgC>tgT	p.C709C	AMPD1_ENST00000520113.2_Silent_p.C713C|AMPD1_ENST00000353928.6_Silent_p.C680C	NM_001172626.1	NP_001166097.1	P23109	AMPD1_HUMAN	adenosine monophosphate deaminase 1	680					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	Adenosine monophosphate(DB00131)	TTGCCACTTCGCACATATCAC	0.438													36	33					0	0	1	0	0	A	115216305	G	A	115216305	2	1	203	1	0	0	0	0	0	0	0	1	581	1079	38	1		1	AMPD1	1	115216305	Silent	SNP	G	TCGA-FG-8185-01A-11D-2253-08	5165720	115216305	134034316	3	25111											
BCL9	607	broad.mit.edu	37	1	147090673	147090673	+	Frame_Shift_Del	DEL	C	C	-			TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr1:147090673delC	ENST00000234739.3	+	8	1452	c.712delC	c.(712-714)cccfs	p.P239fs		NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	239	Pro-rich.				Wnt receptor signaling pathway	nucleus	protein binding			breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					CCCACAACAGCCCCCAGCTCC	0.517			T	"IGH@, IGL@"	B-ALL								8	469	---	---	---	---						-	147090673	C	-	147090673	7	5	203	1	0	1	0	1	0	0	0	0	1379	739	26	0	730	0	BCL9	1	147090673	Frame_Shift_Del	DEL	C	TCGA-FG-8185-01A-11D-2253-08	31874368	147090673	102159948	4	25112											
TCHH	7062	broad.mit.edu	37	1	152084077	152084077	+	Missense_Mutation	SNP	C	C	G			TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr1:152084077C>G	ENST00000368804.1	-	2	1615	c.1616G>C	c.(1615-1617)aGa>aCa	p.R539T		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	539	9 X 28 AA approximate tandem repeats.				keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGCTCGCGTCTTAGTTGTTG	0.652													15	241					0	0	1	0	0	G	152084077	C	G	152084077	3	3	203	1	0	0	0	0	1	0	0	0	15760	913	32	4	4219	4	TCHH	1	152084077	Missense_Mutation	SNP	C	TCGA-FG-8185-01A-11D-2253-08	4993404	152084077	97166544	5	25113											
LAMC1	3915	broad.mit.edu	37	1	183086809	183086809	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr1:183086809G>A	ENST00000258341.4	+	10	2085	c.1828G>A	c.(1828-1830)Gct>Act	p.A610T		NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)	610	Laminin IV type A.				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent			NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	ACCCTTGATCGCTCAGGGCAA	0.483													4	77					0	0	1	0	0	A	183086809	G	A	183086809	3	1	203	1	0	0	0	0	1	0	0	0	8653	1087	38	1	1866	1	LAMC1	1	183086809	Missense_Mutation	SNP	G	TCGA-FG-8185-01A-11D-2253-08	31002732	183086809	66163812	6	25114											
MIA3	375056	broad.mit.edu	37	1	222803484	222803484	+	Silent	SNP	C	C	G			TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr1:222803484C>G	ENST00000344922.5	+	4	2947	c.2922C>G	c.(2920-2922)gtC>gtG	p.V974V	MIA3_ENST00000344441.6_Silent_p.V974V|MIA3_ENST00000470521.1_3'UTR|MIA3_ENST00000344507.1_Intron	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	974					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)		TGGAAAAAGTCCTAGATAAGG	0.428													19	24					0	0	1	0	0	G	222803484	C	G	222803484	2	3	203	1	0	0	0	0	0	0	0	1	9614	842	30	5		5	MIA3	1	222803484	Silent	SNP	C	TCGA-FG-8185-01A-11D-2253-08	39716675	222803484	26447137	7	25115											
APOB	338	broad.mit.edu	37	2	21228306	21228306	+	Missense_Mutation	SNP	C	C	G			TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr2:21228306C>G	ENST00000233242.1	-	26	11561	c.11434G>C	c.(11434-11436)Gag>Cag	p.E3812Q		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	3812					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	ACGGTTATCTCAAAAAAGGGA	0.423													59	72					0	0	1	0	0	G	21228306	C	G	21228306	3	3	203	1	0	0	0	0	1	0	0	0	782	835	29	5	2273	5	APOB	2	21228306	Missense_Mutation	SNP	C	TCGA-FG-8185-01A-11D-2253-08		21228306	221971067	8	25116											
VAX2	25806	broad.mit.edu	37	2	71148309	71148309	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr2:71148309C>T	ENST00000234392.2	+	2	361	c.329C>T	c.(328-330)aCt>aTt	p.T110I		NM_012476.2	NP_036608.1	Q9UIW0	VAX2_HUMAN	ventral anterior homeobox 2	110					ectoderm development|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2)|skin(1)	7						ACATCCTTCACTGCCGAGCAG	0.622													4	76					0	0	1	0	0	T	71148309	C	T	71148309	3	4	203	1	0	0	0	0	1	0	0	0	17195	565	20	2	335	2	VAX2	2	71148309	Missense_Mutation	SNP	C	TCGA-FG-8185-01A-11D-2253-08	49920003	71148309	172051064	9	25117											
IDH1	3417	broad.mit.edu	37	2	209113113	209113113	+	Missense_Mutation	SNP	G	G	A	rs121913499		TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr2:209113113G>A	ENST00000415913.1	-	4	775	c.394C>T	c.(394-396)Cgt>Tgt	p.R132C	IDH1_ENST00000345146.2_Missense_Mutation_p.R132C|IDH1_ENST00000446179.1_Missense_Mutation_p.R132C	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		TAAGCATGACGACCTATGATG	0.398			Mis		gliobastoma								23	41					0	0	1	0	0	A	209113113	G	A	209113113	3	1	203	1	0	0	0	0	1	0	0	0	7538	1058	37	1	878	1	IDH1	2	209113113	Missense_Mutation	SNP	G	TCGA-FG-8185-01A-11D-2253-08	137964804	209113113	34086260	10	25118											
VHL	7428	broad.mit.edu	37	3	10191622	10191622	+	Silent	SNP	C	C	T			TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr3:10191622C>T	ENST00000256474.2	+	3	1455	c.615C>T	c.(613-615)cgC>cgT	p.R205R	VHL_ENST00000477538.1_3'UTR|VHL_ENST00000345392.2_Silent_p.R164R	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	205					anti-apoptosis|cell morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cell differentiation|positive regulation of transcription, DNA-dependent|protein stabilization|protein ubiquitination|proteolysis	cytosol|endoplasmic reticulum|membrane|mitochondrion|nucleus	protein binding|transcription factor binding	p.I206fs*10(2)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		CACAGGAGCGCATTGCACATC	0.468		1	"D, Mis, N, F, S"		"renal, hemangioma, pheochromocytoma"	"renal, hemangioma, pheochromocytoma"			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia				13	16					0	0	1	0	0	T	10191622	C	T	10191622	2	4	203	1	0	0	0	0	0	0	0	1	17222	697	25	2		2	VHL	3	10191622	Silent	SNP	C	TCGA-FG-8185-01A-11D-2253-08		10191622	187830808	11	25119											
ZIC4	84107	broad.mit.edu	37	3	147108852	147108852	+	Silent	SNP	G	G	C			TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr3:147108852G>C	ENST00000383075.3	-	4	1382	c.870C>G	c.(868-870)cgC>cgG	p.R290R	ZIC4_ENST00000472749.2_5'UTR|ZIC4_ENST00000484399.1_Silent_p.R290R|ZIC4_ENST00000473123.1_Silent_p.R290R|ZIC4_ENST00000525172.2_Silent_p.R340R|ZIC4_ENST00000425731.3_Silent_p.R328R|ZIC4_ENST00000491672.1_Silent_p.R84R	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN	Zic family member 4	290						nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						GCGGCGGCGAGCGCCCGTGCA	0.667													5	108					0	0	1	0	0	C	147108852	G	C	147108852	2	2	203	1	0	0	0	0	0	0	0	1	17739	958	34	4		4	ZIC4	3	147108852	Silent	SNP	G	TCGA-FG-8185-01A-11D-2253-08	136917230	147108852	50913578	12	25120											
YEATS2	55689	broad.mit.edu	37	3	183493803	183493805	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr3:183493803_183493805delAGG	ENST00000305135.5	+	18	2664_2666	c.2469_2471delAGG	c.(2467-2472)acagga>aca	p.G828del		NM_018023.4	NP_060493.3	Q9ULM3	YETS2_HUMAN	YEATS domain containing 2	828	Gly-rich.				histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex	TBP-class protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			gcggcagcacaggaggaggagga	0.601													7	48	---	---	---	---						-	183493805	AGG	-	183493803	7	5	203	1	0	1	0	1	0	0	0	0	17532	175	7	0	2535	0	YEATS2	3	183493803	In_Frame_Del	DEL	AGG	TCGA-FG-8185-01A-11D-2253-08	36384951	183493803	14528627	13	25121											
UGT2B10	7365	broad.mit.edu	37	4	69696406	69696406	+	Missense_Mutation	SNP	G	G	C			TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr4:69696406G>C	ENST00000265403.7	+	6	1423	c.1396G>C	c.(1396-1398)Gtc>Ctc	p.V466L	UGT2B10_ENST00000458688.2_Missense_Mutation_p.V382L	NM_001075.4	NP_001066.1	P36537	UDB10_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B10	466					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						GATTGAATTTGTCATGCGCCA	0.438													11	188					0	0	1	0	0	C	69696406	G	C	69696406	3	2	203	1	0	0	0	0	1	0	0	0	17016	1377	48	5	1418	5	UGT2B10	4	69696406	Missense_Mutation	SNP	G	TCGA-FG-8185-01A-11D-2253-08		69696406	121457870	14	25122											
DIAPH1	1729	broad.mit.edu	37	5	140958726	140958726	+	Missense_Mutation	SNP	C	C	G			TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr5:140958726C>G	ENST00000253811.6	-	9	1002	c.862G>C	c.(862-864)Gag>Cag	p.E288Q	DIAPH1_ENST00000520569.1_Missense_Mutation_p.E234Q|DIAPH1_ENST00000518047.1_Missense_Mutation_p.E279Q|DIAPH1_ENST00000389054.3_Missense_Mutation_p.E288Q|DIAPH1_ENST00000389057.5_Missense_Mutation_p.E279Q|DIAPH1_ENST00000398557.4_Missense_Mutation_p.E288Q|DIAPH1_ENST00000398566.3_Missense_Mutation_p.E279Q|DIAPH1_ENST00000398562.2_Missense_Mutation_p.E279Q			O60610	DIAP1_HUMAN	diaphanous-related formin 1	288	GBD/FH3.				regulation of microtubule-based process|sensory perception of sound	cytoplasm|cytoskeleton|ruffle membrane	actin binding|receptor binding|Rho GTPase binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2)	23			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCATCCATCTCAGCTCTTTCT	0.473													5	226					0	0	1	0	0	G	140958726	C	G	140958726	3	3	203	1	0	0	0	0	1	0	0	0	4546	835	29	5	3036	5	DIAPH1	5	140958726	Missense_Mutation	SNP	C	TCGA-FG-8185-01A-11D-2253-08		140958726	39956534	15	25123											
GABRG2	2566	broad.mit.edu	37	5	161569181	161569181	+	Missense_Mutation	SNP	G	G	T			TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr5:161569181G>T	ENST00000356592.3	+	7	1241	c.781G>T	c.(781-783)Gtc>Ttc	p.V261F	GABRG2_ENST00000414552.2_Missense_Mutation_p.V301F|GABRG2_ENST00000361925.4_Missense_Mutation_p.V261F|GABRG2_ENST00000393933.4_Missense_Mutation_p.V166F	NM_000816.3|NM_198904.2	NP_000807.2|NP_944494.1	P18507	GBRG2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 2	261					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding	p.V261F(1)		NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)		AGATTATGTGGTCATGTCTGT	0.403													33	77					1.32136e-16	1.42622e-16	1	1	0	T	161569181	G	T	161569181	3	4	203	1	0	0	0	0	1	0	0	0	6207	1261	44	5	931	5	GABRG2	5	161569181	Missense_Mutation	SNP	G	TCGA-FG-8185-01A-11D-2253-08	20610455	161569181	19346079	16	25124											
MED23	9439	broad.mit.edu	37	6	131929091	131929091	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr6:131929091C>T	ENST00000403834.3	-	12	1389	c.1216G>A	c.(1216-1218)Gac>Aac	p.D406N	MED23_ENST00000368068.3_Missense_Mutation_p.D400N|MED23_ENST00000368058.1_Missense_Mutation_p.D406N|MED23_ENST00000354577.4_Missense_Mutation_p.D406N|MED23_ENST00000545957.1_Intron|MED23_ENST00000368053.4_Missense_Mutation_p.D406N|MED23_ENST00000539158.1_Missense_Mutation_p.D400N|MED23_ENST00000368060.3_Missense_Mutation_p.D400N|MED23_ENST00000540546.1_Missense_Mutation_p.D406N			Q9ULK4	MED23_HUMAN	mediator complex subunit 23	400					regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor complex	protein binding|transcription coactivator activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	44	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)		TATAGCAAGTCGAAGAGCTTC	0.343													16	21					0	0	1	0	0	T	131929091	C	T	131929091	3	4	203	1	0	0	0	0	1	0	0	0	9491	884	31	1	2987	1	MED23	6	131929091	Missense_Mutation	SNP	C	TCGA-FG-8185-01A-11D-2253-08		131929091	39185976	17	25125											
RBAK	57786	broad.mit.edu	37	7	5104674	5104674	+	Missense_Mutation	SNP	C	C	G			TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr7:5104674C>G	ENST00000396912.1	+	5	2106	c.1587C>G	c.(1585-1587)caC>caG	p.H529Q	RBAK_ENST00000353796.3_Missense_Mutation_p.H529Q|RBAK-RBAKDN_ENST00000407184.1_Intron|RBAK-RBAKDN_ENST00000396904.2_Intron	NM_021163.3	NP_066986.1	Q9NYW8	RBAK_HUMAN	RB-associated KRAB zinc finger	529	Interaction with AR.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			NS(1)|kidney(1)|large_intestine(2)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	10		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0916)|OV - Ovarian serous cystadenocarcinoma(56;2.44e-14)		TCGATGGGCACCAGCCACTTC	0.383													18	39					0	0	1	0	0	G	5104674	C	G	5104674	3	3	203	1	0	0	0	0	1	0	0	0	13152	506	18	5	1601	5	RBAK	7	5104674	Missense_Mutation	SNP	C	TCGA-FG-8185-01A-11D-2253-08		5104674	154033989	18	25126											
HEPACAM2	253012	broad.mit.edu	37	7	92838050	92838050	+	Missense_Mutation	SNP	C	C	G			TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr7:92838050C>G	ENST00000394468.2	-	4	932	c.855G>C	c.(853-855)agG>agC	p.R285S	HEPACAM2_ENST00000440868.1_Missense_Mutation_p.R273S|HEPACAM2_ENST00000453812.2_Missense_Mutation_p.R308S|HEPACAM2_ENST00000341723.4_Missense_Mutation_p.R273S	NM_001039372.1	NP_001034461.1	A8MVW5	HECA2_HUMAN	HEPACAM family member 2	285	Ig-like C2-type 2.					integral to membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(4)|skin(1)	28						TATTGTCAGTCCTCCTAATCC	0.443													26	23					0	0	1	0	0	G	92838050	C	G	92838050	3	3	203	1	0	0	0	0	1	0	0	0	7094	854	30	5	561	5	HEPACAM2	7	92838050	Missense_Mutation	SNP	C	TCGA-FG-8185-01A-11D-2253-08	87733376	92838050	66300613	19	25127											
CPA2	1358	broad.mit.edu	37	7	129929564	129929564	+	Missense_Mutation	SNP	C	C	G			TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr7:129929564C>G	ENST00000222481.4	+	11	1292	c.1237C>G	c.(1237-1239)Cat>Gat	p.H413D		NM_001869.2	NP_001860.2	P48052	CBPA2_HUMAN	carboxypeptidase A2 (pancreatic)	413					proteolysis|vacuolar protein catabolic process	extracellular region|vacuole	metallocarboxypeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Melanoma(18;0.0435)					AATCATGGAGCATGTGCGAGA	0.512													4	103					0	0	1	0	0	G	129929564	C	G	129929564	3	3	203	1	0	0	0	0	1	0	0	0	3813	710	25	5	1279	5	CPA2	7	129929564	Missense_Mutation	SNP	C	TCGA-FG-8185-01A-11D-2253-08	37091514	129929564	29209099	20	25128											
KIAA1429	25962	broad.mit.edu	37	8	95530133	95530133	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr8:95530133C>T	ENST00000297591.5	-	10	2626	c.2551G>A	c.(2551-2553)Gca>Aca	p.A851T	KIAA1429_ENST00000437199.1_Missense_Mutation_p.A851T|KIAA1429_ENST00000421249.2_Missense_Mutation_p.A851T	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	851					mRNA processing|RNA splicing	nucleus				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			AGTATGCATGCGTAATTATAA	0.318													8	12					0	0	1	0	0	T	95530133	C	T	95530133	3	4	203	1	0	0	0	0	1	0	0	0	8273	768	27	1	3001	1	KIAA1429	8	95530133	Missense_Mutation	SNP	C	TCGA-FG-8185-01A-11D-2253-08		95530133	50833889	21	25129											
SVEP1	79987	broad.mit.edu	37	9	113139603	113139603	+	Silent	SNP	G	G	C			TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr9:113139603G>C	ENST00000401783.2	-	45	10788	c.10452C>G	c.(10450-10452)cgC>cgG	p.R3484R	SVEP1_ENST00000374469.1_Silent_p.R3461R|SVEP1_ENST00000297826.5_Silent_p.R1410R	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	3484					cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						AAGCATTTGGGCGTTGGCAGA	0.502													25	55					0	0	1	0	0	C	113139603	G	C	113139603	2	2	203	1	0	0	0	0	0	0	0	1	15476	1190	42	5		5	SVEP1	9	113139603	Silent	SNP	G	TCGA-FG-8185-01A-11D-2253-08		113139603	28073828	22	25130											
TNFSF15	9966	broad.mit.edu	37	9	117568099	117568099	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr9:117568099G>A	ENST00000374045.4	-	1	307	c.194C>T	c.(193-195)gCc>gTc	p.A65V		NM_001204344.1|NM_005118.3	NP_001191273.1|NP_005109.2	O95150	TNF15_HUMAN	tumor necrosis factor (ligand) superfamily, member 15	65					activation of caspase activity|activation of NF-kappaB-inducing kinase activity|cytokine metabolic process|immune response	extracellular space|integral to plasma membrane	cytokine activity|tumor necrosis factor receptor binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|skin(1)	11						CTGCACACAGGCCTCTCCCTG	0.602													14	64					0	0	1	0	0	A	117568099	G	A	117568099	3	1	203	1	0	0	0	0	1	0	0	0	16368	1203	42	2	577	2	TNFSF15	9	117568099	Missense_Mutation	SNP	G	TCGA-FG-8185-01A-11D-2253-08	4428496	117568099	23645332	23	25131											
CACNA1B	774	broad.mit.edu	37	9	140946550	140946550	+	Silent	SNP	C	C	G			TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr9:140946550C>G	ENST00000277549.5	+	26	3874	c.1305C>G	c.(1303-1305)tcC>tcG	p.S435S	CACNA1B_ENST00000371372.1_Silent_p.S1239S|CACNA1B_ENST00000277551.2_Silent_p.S1239S|CACNA1B_ENST00000371363.1_Silent_p.S1239S|CACNA1B_ENST00000371355.4_Silent_p.S1240S|CACNA1B_ENST00000371357.1_Silent_p.S1240S			Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	1239					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	CTAGAGGATCCAAAGGGAAAG	0.582													8	15					0	0	1	0	0	G	140946550	C	G	140946550	2	3	203	1	0	0	0	0	0	0	0	1	2557	581	21	5		5	CACNA1B	9	140946550	Silent	SNP	C	TCGA-FG-8185-01A-11D-2253-08	23378451	140946550	266881	24	25132											
ADARB2	105	broad.mit.edu	37	10	1779285	1779285	+	Missense_Mutation	SNP	G	G	C			TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr10:1779285G>C	ENST00000381312.1	-	1	385	c.60C>G	c.(58-60)tgC>tgG	p.C20W		NM_018702.3	NP_061172.1	Q9NS39	RED2_HUMAN	adenosine deaminase, RNA-specific, B2 (non-functional)	20					mRNA processing	mitochondrion|nucleus	adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	41		all_epithelial(10;0.059)|Colorectal(49;0.0815)		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)		TCTTGGACTTGCATTTGAGTT	0.701													44	231					0	0	1	0	0	C	1779285	G	C	1779285	3	2	203	1	0	0	0	0	1	0	0	0	282	1311	46	5	2199	5	ADARB2	10	1779285	Missense_Mutation	SNP	G	TCGA-FG-8185-01A-11D-2253-08		1779285	133755462	25	25133											
SLC17A6	57084	broad.mit.edu	37	11	22360149	22360149	+	Missense_Mutation	SNP	C	C	G			TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr11:22360149C>G	ENST00000263160.3	+	1	507	c.70C>G	c.(70-72)Ctc>Gtc	p.L24V		NM_020346.2	NP_065079.1	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 6	24					sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						TGGAAAATCACTCGGCCAGAT	0.473													9	26					0	0	1	0	0	G	22360149	C	G	22360149	3	3	203	1	0	0	0	0	1	0	0	0	14476	565	20	4	72	4	SLC17A6	11	22360149	Missense_Mutation	SNP	C	TCGA-FG-8185-01A-11D-2253-08		22360149	112646367	26	25134											
OR5D14	219436	broad.mit.edu	37	11	55563737	55563737	+	Missense_Mutation	SNP	C	C	T	rs145440752	byFrequency	TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr11:55563737C>T	ENST00000335605.1	+	1	706	c.706C>T	c.(706-708)Cgc>Tgc	p.R236C		NM_001004735.1	NP_001004735.1	Q8NGL3	OR5DE_HUMAN	olfactory receptor, family 5, subfamily D, member 14	236					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48		all_epithelial(135;0.196)				TGTTAGTGGGCGCCACAAAGC	0.463													32	52					0	0	1	0	0	T	55563737	C	T	55563737	3	4	203	1	0	0	0	0	1	0	0	0	11202	768	27	1	708	1	OR5D14	11	55563737	Missense_Mutation	SNP	C	TCGA-FG-8185-01A-11D-2253-08	33203588	55563737	79442779	27	25135											
MMP20	9313	broad.mit.edu	37	11	102465488	102465488	+	Splice_Site	SNP	C	C	G			TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr11:102465488C>G	ENST00000260228.2	-	7	966	c.954G>C	c.(952-954)cgG>cgC	p.R318R	MMP20_ENST00000544938.1_5'UTR	NM_004771.3	NP_004762.2	O60882	MMP20_HUMAN	matrix metallopeptidase 20	318	Hemopexin-like 1.				proteolysis|regulation of enamel mineralization	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|protein binding|zinc ion binding			endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(8;8.95e-05)|all_epithelial(12;0.00227)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Epithelial(9;0.0216)|Lung(13;0.0711)|all cancers(10;0.0889)|LUSC - Lung squamous cell carcinoma(19;0.13)	BRCA - Breast invasive adenocarcinoma(274;0.0161)		TCCAGAAAATCCTATGGGACA	0.418													15	18					0	0	1	0	0	G	102465488	C	G	102465488	5	3	203	1	0	0	0	0	0	0	1	0	9707	869	30	5	513	5	MMP20	11	102465488	Splice_Site	SNP	C	TCGA-FG-8185-01A-11D-2253-08	46901751	102465488	32541028	28	25136											
MDM2	4193	broad.mit.edu	37	12	69230521	69230521	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr12:69230521T>C	ENST00000462284.1	+	10	1212	c.910T>C	c.(910-912)Tcc>Ccc	p.S304P	MDM2_ENST00000544561.1_Intron|MDM2_ENST00000478070.1_Intron|MDM2_ENST00000348801.2_Intron|MDM2_ENST00000350057.5_Missense_Mutation_p.S273P|MDM2_ENST00000517852.1_Intron|MDM2_ENST00000428863.2_Intron|MDM2_ENST00000356290.4_Missense_Mutation_p.S128P|MDM2_ENST00000393410.1_Intron|MDM2_ENST00000360430.2_Missense_Mutation_p.S103P|MDM2_ENST00000258149.5_Missense_Mutation_p.S243P|MDM2_ENST00000393412.3_Intron|MDM2_ENST00000540827.1_Missense_Mutation_p.S103P|MDM2_ENST00000258148.7_Missense_Mutation_p.S249P|MDM2_ENST00000545204.1_Intron|MDM2_ENST00000299252.4_Missense_Mutation_p.S128P|MDM2_ENST00000393413.3_Intron	NM_002392.4	NP_002383.2	Q00987	MDM2_HUMAN	MDM2 oncogene, E3 ubiquitin protein ligase	298	ARF-binding.|Interaction with MTBP (By similarity).|Necessary for interaction with USP2.|Region II.				cellular response to hypoxia|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|establishment of protein localization|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell cycle arrest|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mitotic cell cycle|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein complex assembly|protein destabilization|protein localization to nucleus|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to antibiotic|synaptic transmission	cytosol|endocytic vesicle membrane|insoluble fraction|nucleolus|nucleoplasm|plasma membrane|protein complex	enzyme binding|identical protein binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(8)|prostate(1)|urinary_tract(1)	19	all_cancers(1;8.46e-121)|all_epithelial(5;3.21e-36)|Lung NSC(4;2.16e-33)|all_lung(4;3.03e-31)|Glioma(1;1.9e-09)|Breast(13;1.59e-06)|all_neural(1;1.03e-05)|Melanoma(1;0.0171)|Renal(347;0.0684)		all cancers(2;8.67e-65)|GBM - Glioblastoma multiforme(2;8.89e-62)|BRCA - Breast invasive adenocarcinoma(5;2.43e-08)|Lung(24;1.5e-05)|LUAD - Lung adenocarcinoma(15;8.5e-05)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)			TCCTGAAATTTCCTTAGCTGT	0.308			A		"sarcoma, glioma, colorectal, other"								26	41					0	0	1	0	0	C	69230521	T	C	69230521	3	2	203	1	0	0	0	0	1	0	0	0	9463	1783	62	3	948	3	MDM2	12	69230521	Missense_Mutation	SNP	T	TCGA-FG-8185-01A-11D-2253-08		69230521	64621374	29	25137											
PTPRB	5787	broad.mit.edu	37	12	71002871	71002871	+	Silent	SNP	C	C	T			TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr12:71002871C>T	ENST00000334414.6	-	4	1001	c.957G>A	c.(955-957)gaG>gaA	p.E319E	PTPRB_ENST00000451516.2_Silent_p.E101E|PTPRB_ENST00000261266.5_Silent_p.E101E|PTPRB_ENST00000550358.1_Silent_p.E319E|PTPRB_ENST00000551525.1_Silent_p.E318E|PTPRB_ENST00000538174.2_5'UTR|PTPRB_ENST00000538708.1_Silent_p.E101E|PTPRB_ENST00000550857.1_Silent_p.E101E	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	101	Fibronectin type-III 4.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			CCACTGTTCTCTCTTCATCCA	0.463													5	120					0	0	1	0	0	T	71002871	C	T	71002871	2	4	203	1	0	0	0	0	0	0	0	1	12848	912	32	2		2	PTPRB	12	71002871	Silent	SNP	C	TCGA-FG-8185-01A-11D-2253-08	1772350	71002871	62849024	30	25138											
GALC	2581	broad.mit.edu	37	14	88454494	88454494	+	Missense_Mutation	SNP	T	T	A			TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr14:88454494T>A	ENST00000261304.2	-	3	428	c.322A>T	c.(322-324)Aca>Tca	p.T108S	GALC_ENST00000393568.4_Missense_Mutation_p.T85S|GALC_ENST00000393569.2_Missense_Mutation_p.T82S|GALC_ENST00000544807.2_Missense_Mutation_p.T52S|GALC_ENST00000554916.1_5'UTR	NM_000153.3|NM_001201401.1	NP_000144.2|NP_001188330.1	P54803	GALC_HUMAN	galactosylceramidase	108					carbohydrate metabolic process|galactosylceramide catabolic process	lysosome	cation binding|galactosylceramidase activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CTACCTGTTGTCTGCCCATCA	0.358													15	30					0	0	1	0	0	A	88454494	T	A	88454494	3	1	203	1	0	0	0	0	1	0	0	0	6241	1667	58	5	1858	5	GALC	14	88454494	Missense_Mutation	SNP	T	TCGA-FG-8185-01A-11D-2253-08		88454494	18895046	31	25139											
LIPC	3990	broad.mit.edu	37	15	58855814	58855814	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr15:58855814C>T	ENST00000414170.3	+	9	1567	c.1280C>T	c.(1279-1281)gCc>gTc	p.A427V	LIPC_ENST00000433326.2_Missense_Mutation_p.A366V|LIPC_ENST00000299022.5_Missense_Mutation_p.A427V|LIPC_ENST00000356113.6_Missense_Mutation_p.A427V			P11150	LIPC_HUMAN	lipase, hepatic	427	PLAT.				cholesterol homeostasis|chylomicron remnant clearance|fatty acid biosynthetic process|high-density lipoprotein particle remodeling|intermediate-density lipoprotein particle remodeling|low-density lipoprotein particle remodeling|phosphatidylcholine catabolic process|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle	apolipoprotein binding|heparin binding|low-density lipoprotein particle binding|phospholipase activity|triglyceride lipase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Colorectal(260;0.215)		GBM - Glioblastoma multiforme(80;0.00213)|all cancers(107;0.00548)		GCAGTGTGGGCCAATGTCTGG	0.507													6	83					0	0	1	0	0	T	58855814	C	T	58855814	3	4	203	1	0	0	0	0	1	0	0	0	8861	739	26	2	1310	2	LIPC	15	58855814	Missense_Mutation	SNP	C	TCGA-FG-8185-01A-11D-2253-08		58855814	43675578	32	25140											
SOCS1	8651	broad.mit.edu	37	16	11349039	11349039	+	Silent	SNP	G	G	T			TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr16:11349039G>T	ENST00000332029.2	-	2	447	c.297C>A	c.(295-297)ggC>ggA	p.G99G	RMI2_ENST00000572173.1_Intron	NM_003745.1	NP_003736.1	O15524	SOCS1_HUMAN	suppressor of cytokine signaling 1	99	SH2.				interferon-gamma-mediated signaling pathway|JAK-STAT cascade|negative regulation of insulin receptor signaling pathway|negative regulation of tyrosine phosphorylation of Stat3 protein|regulation of growth|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytosol	insulin-like growth factor receptor binding|protein kinase binding|protein kinase inhibitor activity	p.Y64fs*1(1)|p.0?(1)|p.D63_Q108del(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(66)|lung(3)	71						CCAGGAAGGTGCCCACGGGCT	0.706			"F, O"		"Hodgkin Lymphoma, PMBL"								3	10					1	1	1	1	0	T	11349039	G	T	11349039	2	4	203	1	0	0	0	0	0	0	0	1	14967	1306	46	5		5	SOCS1	16	11349039	Silent	SNP	G	TCGA-FG-8185-01A-11D-2253-08		11349039	79005714	33	25141											
FAM192A	80011	broad.mit.edu	37	16	57206707	57206707	+	Translation_Start_Site	SNP	G	G	A			TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr16:57206707G>A	ENST00000566077.1	-	0	360				FAM192A_ENST00000309137.8_Silent_p.Y69Y|FAM192A_ENST00000567439.1_Silent_p.Y69Y|FAM192A_ENST00000389447.5_Silent_p.Y69Y|FAM192A_ENST00000569266.1_Silent_p.Y69Y|FAM192A_ENST00000564108.1_Silent_p.Y69Y			Q9GZU8	F192A_HUMAN	family with sequence similarity 192, member A							nucleus				endometrium(2)|large_intestine(3)|lung(4)|prostate(2)	11						ACTGTTCCTCGTACTCCTGCT	0.468													42	46					0	0	1	0	0	A	57206707	G	A	57206707	1	1	203	1	0	0	0	0	0	0	0	0	5555	1140	40	1		1	FAM192A	16	57206707	Translation_Start_Site	SNP	G	TCGA-FG-8185-01A-11D-2253-08	45857668	57206707	33148046	34	25142											
ANKRD11	29123	broad.mit.edu	37	16	89351668	89351668	+	Missense_Mutation	SNP	G	G	C			TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr16:89351668G>C	ENST00000301030.4	-	9	1742	c.1282C>G	c.(1282-1284)Ctc>Gtc	p.L428V	ANKRD11_ENST00000378330.2_Missense_Mutation_p.L428V	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	428						nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		TGTGCCGAGAGTCTCAGCTTC	0.488													8	100					0	0	1	0	0	C	89351668	G	C	89351668	3	2	203	1	0	0	0	0	1	0	0	0	635	1029	36	4	6729	4	ANKRD11	16	89351668	Missense_Mutation	SNP	G	TCGA-FG-8185-01A-11D-2253-08	32144961	89351668	1003085	35	25143											
TP53	7157	broad.mit.edu	37	17	7578203	7578203	+	Missense_Mutation	SNP	C	C	A			TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr17:7578203C>A	ENST00000420246.2	-	6	778	c.646G>T	c.(646-648)Gtg>Ttg	p.V216L	TP53_ENST00000413465.2_Missense_Mutation_p.V216L|TP53_ENST00000445888.2_Missense_Mutation_p.V216L|TP53_ENST00000269305.4_Missense_Mutation_p.V216L|TP53_ENST00000455263.2_Missense_Mutation_p.V216L|TP53_ENST00000359597.4_Missense_Mutation_p.V216L|TP53_ENST00000574684.1_Intron	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	216	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		V -> A (in sporadic cancers; somatic mutation).|V -> E (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).|V -> M (in sporadic cancers; somatic mutation).|V -> W (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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.V216M(61)|p.V216del(8)|p.0?(8)|p.V216L(7)|p.?(5)|p.V84M(3)|p.V123M(3)|p.V216fs*6(2)|p.H214fs*5(2)|p.V216fs*32(1)|p.V216fs*33(1)|p.S215fs*27(1)|p.S215fs*29(1)|p.V216fs*5(1)|p.V216_Y220delVVVPY(1)|p.D208_V216delDRNTFRHSV(1)|p.D208fs*1(1)|p.S215fs*31(1)|p.S215_V216insX(1)|p.T211fs*28(1)|p.D207_V216del10(1)|p.S215_V218>R(1)|p.S215_V218>M(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)		GGCACCACCACACTATGTCGA	0.537		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)			26	26					1.77063e-15	1.8813e-15	1	1	0	A	7578203	C	A	7578203	3	1	203	1	0	0	0	0	1	0	0	0	16442	478	17	5	648	5	TP53	17	7578203	Missense_Mutation	SNP	C	TCGA-FG-8185-01A-11D-2253-08		7578203	73617007	36	25144											
TP53	7157	broad.mit.edu	37	17	7578265	7578265	+	Missense_Mutation	SNP	A	A	T			TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr17:7578265A>T	ENST00000420246.2	-	6	716	c.584T>A	c.(583-585)aTc>aAc	p.I195N	TP53_ENST00000413465.2_Missense_Mutation_p.I195N|TP53_ENST00000445888.2_Missense_Mutation_p.I195N|TP53_ENST00000269305.4_Missense_Mutation_p.I195N|TP53_ENST00000455263.2_Missense_Mutation_p.I195N|TP53_ENST00000359597.4_Missense_Mutation_p.I195N|TP53_ENST00000574684.1_Intron	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	195	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		I -> F (in sporadic cancers; somatic mutation).|I -> L (in a sporadic cancer; somatic mutation).|I -> N (in sporadic cancers; somatic mutation).|I -> S (in sporadic cancers; somatic mutation).|I -> T (in sporadic cancers; somatic mutation).|I -> V (in a sporadic cancer; somatic mutation).|I -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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.I195T(69)|p.I195N(12)|p.I195S(10)|p.0?(8)|p.I195fs*14(5)|p.?(5)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.I102S(2)|p.I102T(2)|p.I63T(2)|p.I63S(2)|p.P191fs*6(1)|p.H193_I195delHLI(1)|p.P59_E66>Q(1)|p.I102fs*14(1)|p.I195fs*12(1)|p.I195fs*50(1)|p.I195_G199delIRVEG(1)|p.P98_E105>Q(1)|p.I63fs*14(1)|p.H193_I195>AP(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)		TTCCACTCGGATAAGATGCTG	0.552		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)			27	42					0	0	1	0	0	T	7578265	A	T	7578265	3	4	203	1	0	0	0	0	1	0	0	0	16442	333	12	4	710	4	TP53	17	7578265	Missense_Mutation	SNP	A	TCGA-FG-8185-01A-11D-2253-08	62	7578265	73616945	37	25145											
UBB	7314	broad.mit.edu	37	17	16285491	16285491	+	Silent	SNP	C	C	T	rs16962973		TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr17:16285491C>T	ENST00000302182.3	+	2	662	c.270C>T	c.(268-270)acC>acT	p.T90T	UBB_ENST00000578649.1_Intron|UBB_ENST00000535788.1_Intron|UBB_ENST00000395837.1_Silent_p.T90T|RP11-138I1.4_ENST00000583934.1_RNA|UBB_ENST00000395839.1_Silent_p.T90T	NM_001281720.1|NM_018955.3	NP_001268649.1|NP_061828.1	P0CG47	UBB_HUMAN	ubiquitin B	90	Ubiquitin-like 2.				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)		AGACCATCACCCTGGAAGTGG	0.552													4	99					0	0	1	0	0	T	16285491	C	T	16285491	2	4	203	1	0	0	0	0	0	0	0	1	16902	610	22	2		2	UBB	17	16285491	Silent	SNP	C	TCGA-FG-8185-01A-11D-2253-08	8707226	16285491	64909719	38	25146											
EFCAB5	374786	broad.mit.edu	37	17	28409944	28409944	+	Silent	SNP	C	C	T			TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr17:28409944C>T	ENST00000394835.3	+	18	3654	c.3462C>T	c.(3460-3462)taC>taT	p.Y1154Y	EFCAB5_ENST00000394832.2_Intron|EFCAB5_ENST00000320856.5_Silent_p.Y1030Y	NM_198529.3	NP_940931	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5	1154							calcium ion binding			breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						CCTATCACTACGTCCACAGCC	0.398													23	143					0	0	1	0	0	T	28409944	C	T	28409944	2	4	203	1	0	0	0	0	0	0	0	1	4964	547	19	1		1	EFCAB5	17	28409944	Silent	SNP	C	TCGA-FG-8185-01A-11D-2253-08	12124453	28409944	52785266	39	25147											
CCL11	6356	broad.mit.edu	37	17	32612839	32612839	+	Silent	SNP	C	C	T			TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr17:32612839C>T	ENST00000305869.3	+	1	153	c.12C>T	c.(10-12)tcC>tcT	p.S4S		NM_002986.2	NP_002977.1	P51671	CCL11_HUMAN	chemokine (C-C motif) ligand 11	4					cell adhesion|cellular calcium ion homeostasis|immune response|positive regulation of actin filament polymerization|positive regulation of cell migration|positive regulation of endothelial cell proliferation|positive regulation of Rac GTPase activity|protein phosphorylation|response to radiation|response to virus|signal transduction	extracellular space	chemokine activity			breast(1)|lung(1)|prostate(1)	3	Breast(3;0.00224)	Breast(31;0.151)|Ovarian(249;0.17)		BRCA - Breast invasive adenocarcinoma(366;0.155)		TGAAGGTCTCCGCAGCACTTC	0.597													12	207					0	0	1	0	0	T	32612839	C	T	32612839	2	4	203	1	0	0	0	0	0	0	0	1	2903	639	23	1		1	CCL11	17	32612839	Silent	SNP	C	TCGA-FG-8185-01A-11D-2253-08	4202895	32612839	48582371	40	25148											
CASKIN2	57513	broad.mit.edu	37	17	73502705	73502705	+	Silent	SNP	G	G	T			TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr17:73502705G>T	ENST00000321617.3	-	7	1162	c.576C>A	c.(574-576)ccC>ccA	p.P192P	CASKIN2_ENST00000433559.2_Silent_p.P110P|CASKIN2_ENST00000581870.1_Silent_p.P192P	NM_020753.3	NP_065804.2	Q8WXE0	CSKI2_HUMAN	CASK interacting protein 2	192						cytoplasm				endometrium(1)|kidney(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			CCAAGTGCAGGGGCGTGGTGT	0.622													5	150					0.000602214	0.000611203	1	1	0	T	73502705	G	T	73502705	2	4	203	1	0	0	0	0	0	0	0	1	2685	1219	43	5		5	CASKIN2	17	73502705	Silent	SNP	G	TCGA-FG-8185-01A-11D-2253-08	40889866	73502705	7692505	41	25149	121	2									
CASKIN2	57513	broad.mit.edu	37	17	73502707	73502707	+	Missense_Mutation	SNP	G	G	C			TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr17:73502707G>C	ENST00000321617.3	-	7	1160	c.574C>G	c.(574-576)Ccc>Gcc	p.P192A	CASKIN2_ENST00000433559.2_Missense_Mutation_p.P110A|CASKIN2_ENST00000581870.1_Missense_Mutation_p.P192A	NM_020753.3	NP_065804.2	Q8WXE0	CSKI2_HUMAN	CASK interacting protein 2	192						cytoplasm				endometrium(1)|kidney(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			AAGTGCAGGGGCGTGGTGTAG	0.622													5	151					0	0	1	0	0	C	73502707	G	C	73502707	3	2	203	1	0	0	0	0	1	0	0	0	2685	1203	42	5	3090	5	CASKIN2	17	73502707	Missense_Mutation	SNP	G	TCGA-FG-8185-01A-11D-2253-08	2	73502707	7692503	42	25150	121	2									
LAMA1	284217	broad.mit.edu	37	18	7023260	7023260	+	Silent	SNP	C	C	A			TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr18:7023260C>A	ENST00000389658.3	-	19	2697	c.2604G>T	c.(2602-2604)ggG>ggT	p.G868G		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	868	Laminin EGF-like 8.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding	p.G868G(1)		NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TCAGGCACTCCCCGGTGACTG	0.602													32	39					1.26612e-14	1.32455e-14	1	1	0	A	7023260	C	A	7023260	2	1	203	1	0	0	0	0	0	0	0	1	8644	610	22	5		5	LAMA1	18	7023260	Silent	SNP	C	TCGA-FG-8185-01A-11D-2253-08		7023260	71053988	43	25151											
TCEB3B	51224	broad.mit.edu	37	18	44561111	44561111	+	Silent	SNP	T	T	G			TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr18:44561111T>G	ENST00000332567.4	-	1	877	c.525A>C	c.(523-525)acA>acC	p.T175T	KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000356157.7_Intron	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN	transcription elongation factor B polypeptide 3B (elongin A2)	175					regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding			breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						GGAGGGGAGCTGTGCGCGTTG	0.687													4	65					0	0	1	0	0	G	44561111	T	G	44561111	2	3	203	1	0	0	0	0	0	0	0	1	15742	1567	55	5		5	TCEB3B	18	44561111	Silent	SNP	T	TCGA-FG-8185-01A-11D-2253-08	37537851	44561111	33516137	44	25152											
STARD6	147323	broad.mit.edu	37	18	51858176	51858176	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr18:51858176G>A	ENST00000580990.2	-	3	263	c.43C>T	c.(43-45)Ccc>Tcc	p.P15S	STARD6_ENST00000581310.1_Silent_p.S107S|STARD6_ENST00000307844.3_Silent_p.S107S			P59095	STAR6_HUMAN	StAR-related lipid transfer (START) domain containing 6	217	START.				lipid transport		lipid binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)	8				Colorectal(16;0.021)|READ - Rectum adenocarcinoma(59;0.188)		AGTCTCGAGGGGAAATGGAGC	0.368													3	63					0	0	1	0	0	A	51858176	G	A	51858176	3	1	203	1	0	0	0	0	1	0	0	0	15317	1219	43	2	352	2	STARD6	18	51858176	Missense_Mutation	SNP	G	TCGA-FG-8185-01A-11D-2253-08	7297065	51858176	26219072	45	25153											
TSHZ1	10194	broad.mit.edu	37	18	72999933	72999933	+	Silent	SNP	G	G	A			TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr18:72999933G>A	ENST00000322038.5	+	2	3020	c.2436G>A	c.(2434-2436)acG>acA	p.T812T	TSHZ1_ENST00000580243.1_Silent_p.T857T	NM_005786.5	NP_005777.3	Q6ZSZ6	TSH1_HUMAN	teashirt zinc finger homeobox 1	857						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		AGTCCTCCACGCCCTCCACAG	0.602													4	57					0	0	1	0	0	A	72999933	G	A	72999933	2	1	203	1	0	0	0	0	0	0	0	1	16684	1074	38	1		1	TSHZ1	18	72999933	Silent	SNP	G	TCGA-FG-8185-01A-11D-2253-08	21141757	72999933	5077315	46	25154											
CSNK1G2	1455	broad.mit.edu	37	19	1979554	1979554	+	Missense_Mutation	SNP	A	A	G			TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr19:1979554A>G	ENST00000255641.8	+	9	1409	c.914A>G	c.(913-915)tAt>tGt	p.Y305C		NM_001319.6	NP_001310.3	P78368	KC1G2_HUMAN	casein kinase 1, gamma 2	305	Protein kinase.				sphingolipid metabolic process|Wnt receptor signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity			endometrium(1)|kidney(1)|lung(3)|prostate(1)|skin(1)|stomach(1)	8		Ovarian(11;2.11e-07)|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)		AAGCCCGACTATGACTACCTG	0.652													35	46					0	0	1	0	0	G	1979554	A	G	1979554	3	3	203	1	0	0	0	0	1	0	0	0	3980	449	16	3	944	3	CSNK1G2	19	1979554	Missense_Mutation	SNP	A	TCGA-FG-8185-01A-11D-2253-08		1979554	57149429	47	25155											
ICAM1	3383	broad.mit.edu	37	19	10394873	10394873	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr19:10394873G>A	ENST00000264832.3	+	4	1127	c.802G>A	c.(802-804)Gac>Aac	p.D268N	CTD-2369P2.5_ENST00000592893.1_RNA|ICAM1_ENST00000423829.2_Missense_Mutation_p.D46N	NM_000201.2	NP_000192.2	P05362	ICAM1_HUMAN	intercellular adhesion molecule 1	268	Ig-like C2-type 3.				adhesion to symbiont|heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking|positive regulation of cellular extravasation|regulation of immune response|regulation of leukocyte mediated cytotoxicity|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell|virion attachment, binding of host cell surface receptor	extracellular space|integral to plasma membrane	integrin binding|transmembrane receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;2.81e-06)|all cancers(31;6.56e-06)		Natalizumab(DB00108)|Simvastatin(DB00641)	CTATGGCAACGACTCCTTCTC	0.632													26	42					0	0	1	0	0	A	10394873	G	A	10394873	3	1	203	1	0	0	0	0	1	0	0	0	7523	1058	37	1	816	1	ICAM1	19	10394873	Missense_Mutation	SNP	G	TCGA-FG-8185-01A-11D-2253-08	8415319	10394873	48734110	48	25156											
AKAP8	10270	broad.mit.edu	37	19	15472624	15472624	+	Missense_Mutation	SNP	C	C	G			TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr19:15472624C>G	ENST00000269701.2	-	11	1372	c.1312G>C	c.(1312-1314)Gta>Cta	p.V438L		NM_005858.3	NP_005849.1	O43823	AKAP8_HUMAN	A kinase (PRKA) anchor protein 8	438					signal transduction	nuclear matrix				breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)	26						TTTCTGTTTACAATGTATTCC	0.458													3	31					0	0	1	0	0	G	15472624	C	G	15472624	3	3	203	1	0	0	0	0	1	0	0	0	454	478	17	5	782	5	AKAP8	19	15472624	Missense_Mutation	SNP	C	TCGA-FG-8185-01A-11D-2253-08	5077751	15472624	43656359	49	25157											
ADCK4	79934	broad.mit.edu	37	19	41197999	41197999	+	Missense_Mutation	SNP	C	C	G			TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr19:41197999C>G	ENST00000324464.3	-	15	1877	c.1576G>C	c.(1576-1578)Gac>Cac	p.D526H	ADCK4_ENST00000450541.1_Missense_Mutation_p.D485H|ADCK4_ENST00000243583.6_Missense_Mutation_p.D485H	NM_024876.3	NP_079152.3	Q96D53	ADCK4_HUMAN	aarF domain containing kinase 4	526						integral to membrane	protein serine/threonine kinase activity			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(6)|stomach(2)|urinary_tract(1)	17			Lung(22;9.49e-05)|LUSC - Lung squamous cell carcinoma(20;0.000219)			GTGGCTGCGTCTGGCTGGCGA	0.672													13	18					0	0	1	0	0	G	41197999	C	G	41197999	3	3	203	1	0	0	0	0	1	0	0	0	289	913	32	4	62	4	ADCK4	19	41197999	Missense_Mutation	SNP	C	TCGA-FG-8185-01A-11D-2253-08	25725375	41197999	17930984	50	25158											
TFPT	29844	broad.mit.edu	37	19	54611378	54611379	+	Frame_Shift_Ins	INS	-	-	CCATC			TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr19:54611378_54611379insCCATC	ENST00000391759.1	-	5	1001_1002	c.596_597insGATGG	c.(595-597)ggafs	p.-199fs	TFPT_ENST00000391758.1_Frame_Shift_Ins_p.-190fs|TFPT_ENST00000391757.1_Frame_Shift_Ins_p.D187fs|NDUFA3_ENST00000391764.3_Intron	NM_013342.3	NP_037474.1	P0C1Z6	TFPT_HUMAN	TCF3 (E2A) fusion partner (in childhood Leukemia)						apoptosis|DNA recombination|DNA repair|induction of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|Ino80 complex	DNA binding|protein binding			large_intestine(2)|lung(2)	4	all_cancers(19;0.004)|all_epithelial(19;0.00195)|all_lung(19;0.0193)|Lung NSC(19;0.0358)|Breast(117;0.137)|Ovarian(34;0.19)					CTGCTCGGCGTCCATCCCGTGG	0.713			T	TCF3	pre-B ALL								30	153	---	---	---	---						CCATC	54611379	-	CCATC	54611378	7	5	203	1	0	1	1	0	0	0	0	0	15870	1654	58	0	172	0	TFPT	19	54611378	Frame_Shift_Ins	INS	-	TCGA-FG-8185-01A-11D-2253-08	13413379	54611378	4517605	51	25159											
ZNF460	10794	broad.mit.edu	37	19	57802257	57802257	+	Missense_Mutation	SNP	G	G	C			TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr19:57802257G>C	ENST00000360338.3	+	3	670	c.348G>C	c.(346-348)gaG>gaC	p.E116D	ZNF460_ENST00000537645.1_Missense_Mutation_p.E75D	NM_006635.3	NP_006626.3	Q14592	ZN460_HUMAN	zinc finger protein 460	116					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CACAGAGTGAGAAACTCCATG	0.473													37	53					0	0	1	0	0	C	57802257	G	C	57802257	3	2	203	1	0	0	0	0	1	0	0	0	17981	933	33	4	358	4	ZNF460	19	57802257	Missense_Mutation	SNP	G	TCGA-FG-8185-01A-11D-2253-08	3190879	57802257	1326726	52	25160											
GFRA4	64096	broad.mit.edu	37	20	3644008	3644010	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr20:3644008_3644010delCAG	ENST00000290417.2	-	1	36_38	c.37_39delCTG	c.(37-39)ctgdel	p.L15del	GFRA4_ENST00000319242.3_In_Frame_Del_p.L15del	NM_022139.3|NM_145762.2	NP_071422.1|NP_665705.1	Q9GZZ7	GFRA4_HUMAN	GDNF family receptor alpha 4	15						anchored to membrane|extracellular region|plasma membrane	receptor activity			large_intestine(1)|lung(2)	3						CACCCAGTAACAGCAGCAGCAGC	0.621													7	37	---	---	---	---						-	3644010	CAG	-	3644008	7	5	203	1	0	1	0	1	0	0	0	0	6392	465	17	0	880	0	GFRA4	20	3644008	In_Frame_Del	DEL	CAG	TCGA-FG-8185-01A-11D-2253-08		3644008	59381512	53	25161											
MYH7B	57644	broad.mit.edu	37	20	33567544	33567544	+	Silent	SNP	G	G	A			TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr20:33567544G>A	ENST00000262873.7	+	5	497	c.405G>A	c.(403-405)acG>acA	p.T135T		NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	93	Myosin head-like.					membrane|myosin filament	actin binding|ATP binding|motor activity			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			CCATGATGACGCACCTGAACG	0.637													47	71					0	0	1	0	0	A	33567544	G	A	33567544	2	1	203	1	0	0	0	0	0	0	0	1	10088	1074	38	1		1	MYH7B	20	33567544	Silent	SNP	G	TCGA-FG-8185-01A-11D-2253-08	29923536	33567544	29457976	54	25162											
MMP24	10893	broad.mit.edu	37	20	33862232	33862232	+	Silent	SNP	C	C	T			TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr20:33862232C>T	ENST00000246186.6	+	9	1843	c.1758C>T	c.(1756-1758)gaC>gaT	p.D586D	MMP24-AS1_ENST00000438751.1_RNA|EDEM2_ENST00000540582.1_Intron|MMP24-AS1_ENST00000455178.1_RNA|RP4-614O4.11_ENST00000444717.1_RNA|MMP24-AS1_ENST00000456350.1_RNA|MMP24-AS1_ENST00000433764.1_RNA|MMP24-AS1_ENST00000454184.1_RNA|MMP24-AS1_ENST00000566203.2_RNA	NM_006690.3	NP_006681.1	Q9Y5R2	MMP24_HUMAN	matrix metallopeptidase 24 (membrane-inserted)	586					proteolysis	integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			NS(1)|endometrium(3)|large_intestine(1)|lung(2)|prostate(2)|skin(5)	14			BRCA - Breast invasive adenocarcinoma(18;0.00252)			CCCAGGACGACGTGGACATCA	0.657													90	131					0	0	1	0	0	T	33862232	C	T	33862232	2	4	203	1	0	0	0	0	0	0	0	1	9710	535	19	1		1	MMP24	20	33862232	Silent	SNP	C	TCGA-FG-8185-01A-11D-2253-08	294688	33862232	29163288	55	25163											
KCNB1	3745	broad.mit.edu	37	20	48098819	48098819	+	Missense_Mutation	SNP	C	C	G			TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr20:48098819C>G	ENST00000371741.4	-	1	365	c.199G>C	c.(199-201)Gac>Cac	p.D67H		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	67					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			AGCAGCGAGTCGTGCGTGTTG	0.662													5	44					0	0	1	0	0	G	48098819	C	G	48098819	3	3	203	1	0	0	0	0	1	0	0	0	8056	884	31	5	2385	5	KCNB1	20	48098819	Missense_Mutation	SNP	C	TCGA-FG-8185-01A-11D-2253-08	14236587	48098819	14926701	56	25164											
KRTAP10-2	386679	broad.mit.edu	37	21	45971107	45971107	+	Missense_Mutation	SNP	A	A	G			TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr21:45971107A>G	ENST00000391621.1	-	1	281	c.235T>C	c.(235-237)Tgc>Cgc	p.C79R	KRTAP10-2_ENST00000498210.1_Intron|TSPEAR_ENST00000323084.4_Intron|TSPEAR_ENST00000397916.1_Intron	NM_198693.2	NP_941966.1	P60368	KR102_HUMAN	keratin associated protein 10-2	79	22 X 5 AA repeats of C-C-X(3).					keratin filament				large_intestine(1)|lung(4)|skin(1)	6						TGCTGGCAGCACGAGGGCGTG	0.692													6	220					0	0	1	0	0	G	45971107	A	G	45971107	3	3	203	1	0	0	0	0	1	0	0	0	8552	159	6	3	536	3	KRTAP10-2	21	45971107	Missense_Mutation	SNP	A	TCGA-FG-8185-01A-11D-2253-08		45971107	2158788	57	25165											
ATRX	546	broad.mit.edu	37	X	76939914	76939915	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chrX:76939914_76939915delAG	ENST00000373344.5	-	9	1047_1048	c.833_834delCT	c.(832-834)actfs	p.T278fs	ATRX_ENST00000395603.3_Frame_Shift_Del_p.T240fs|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	278	ADD.				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)	TGTTACATGCAGTGACCAAGTC	0.371			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						70	21	---	---	---	---						-	76939915	AG	-	76939914	7	5	203	1	0	1	0	1	0	0	0	0	1206	175	7	0	6752	0	ATRX	23	76939914	Frame_Shift_Del	DEL	AG	TCGA-FG-8185-01A-11D-2253-08		76939914	78330646	58	25166											
FRMD7	90167	broad.mit.edu	37	X	131214292	131214292	+	Missense_Mutation	SNP	C	C	G			TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chrX:131214292C>G	ENST00000298542.4	-	10	1083	c.908G>C	c.(907-909)gGa>gCa	p.G303A	FRMD7_ENST00000370879.1_Missense_Mutation_p.G183A|FRMD7_ENST00000464296.1_Missense_Mutation_p.G288A	NM_194277.2	NP_919253.1	Q6ZUT3	FRMD7_HUMAN	FERM domain containing 7	303					regulation of neuron projection development	cytoskeleton|growth cone|neuronal cell body	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Acute lymphoblastic leukemia(192;0.000127)					TTGGGTTCGTCCACTATCATA	0.373													3	12					0	0	1	0	0	G	131214292	C	G	131214292	3	3	203	1	0	0	0	0	1	0	0	0	6090	855	30	5	1248	5	FRMD7	23	131214292	Missense_Mutation	SNP	C	TCGA-FG-8185-01A-11D-2253-08	54274378	131214292	24056268	59	25167											
PLXNA3	55558	broad.mit.edu	37	X	153688564	153688565	+	Frame_Shift_Ins	INS	-	-	G			TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chrX:153688564_153688565insG	ENST00000369682.3	+	2	216_217	c.41_42insG	c.(40-45)gtggggfs	p.VG14fs		NM_017514.3	NP_059984.3	P51805	PLXA3_HUMAN	plexin A3	14					axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity	p.A17fs*39(1)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TTCCTTGCCGTGGGGGGGGCCC	0.683													7	72	---	---	---	---						G	153688565	-	G	153688564	7	5	203	1	0	1	1	0	0	0	0	0	12169	1696	59	0	43	0	PLXNA3	23	153688564	Frame_Shift_Ins	INS	-	TCGA-FG-8185-01A-11D-2253-08	22474272	153688564	1581996	60	25168											
DENND4B	9909	broad.mit.edu	37	1	153907309	153907309	+	Silent	SNP	C	C	T			TCGA-FG-8186-01A-11D-2253-08	TCGA-FG-8186-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729f5374-cda6-4f84-8843-8d638ede22d1	033c9e3a-1498-4e9d-bbb1-2ab70851c8b8	g.chr1:153907309C>T	ENST00000361217.4	-	18	3118	c.2700G>A	c.(2698-2700)caG>caA	p.Q900Q		NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	900	Gln-rich.							p.Q788Q(1)|p.Q900Q(1)		NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			gctgctgttgctgctgctgct	0.642													4	67					0	0	1	0	0	T	153907309	C	T	153907309	2	4	204	1	0	0	0	0	0	0	0	1	4462	796	28	2		2	DENND4B	1	153907309	Silent	SNP	C	TCGA-FG-8186-01A-11D-2253-08		153907309	95343312	1	25169											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-FG-8186-01A-11D-2253-08	TCGA-FG-8186-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729f5374-cda6-4f84-8843-8d638ede22d1	033c9e3a-1498-4e9d-bbb1-2ab70851c8b8	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								32	74					0	0	1	0	0	T	209113112	C	T	209113112	3	4	204	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-FG-8186-01A-11D-2253-08		209113112	34086261	2	25170											
NGEF	25791	broad.mit.edu	37	2	233757683	233757683	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-8186-01A-11D-2253-08	TCGA-FG-8186-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729f5374-cda6-4f84-8843-8d638ede22d1	033c9e3a-1498-4e9d-bbb1-2ab70851c8b8	g.chr2:233757683G>A	ENST00000264051.3	-	7	1345	c.1067C>T	c.(1066-1068)gCg>gTg	p.A356V	NGEF_ENST00000539537.1_Missense_Mutation_p.A79V|NGEF_ENST00000373552.4_Missense_Mutation_p.A264V	NM_019850.2	NP_062824.2	Q8N5V2	NGEF_HUMAN	neuronal guanine nucleotide exchange factor	356	DH.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|growth cone|plasma membrane	Rho guanyl-nucleotide exchange factor activity			central_nervous_system(4)|endometrium(8)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|skin(4)	35		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604)		GTGGTCGGCCGCATAACGGTA	0.562													4	162					0	0	1	0	0	A	233757683	G	A	233757683	3	1	204	1	0	0	0	0	1	0	0	0	10441	1087	38	1	1101	1	NGEF	2	233757683	Missense_Mutation	SNP	G	TCGA-FG-8186-01A-11D-2253-08	24644571	233757683	9441690	3	25171											
SETMAR	6419	broad.mit.edu	37	3	4358185	4358185	+	Missense_Mutation	SNP	A	A	G			TCGA-FG-8186-01A-11D-2253-08	TCGA-FG-8186-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729f5374-cda6-4f84-8843-8d638ede22d1	033c9e3a-1498-4e9d-bbb1-2ab70851c8b8	g.chr3:4358185A>G	ENST00000358065.4	+	3	1377	c.1310A>G	c.(1309-1311)aAt>aGt	p.N437S	SUMF1_ENST00000534863.1_Intron|SETMAR_ENST00000425863.1_Missense_Mutation_p.N298S	NM_006515.3	NP_006506.3	Q53H47	SETMR_HUMAN	SET domain and mariner transposase fusion gene	424	Mariner transposase Hsmar1.				DNA integration|DNA repair|transposition, DNA-mediated	chromosome|nucleus	DNA binding|endonuclease activity|histone-lysine N-methyltransferase activity|transposase activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)	9		Melanoma(143;0.0657)		Epithelial(13;0.0025)|OV - Ovarian serous cystadenocarcinoma(96;0.011)|all cancers(10;0.0114)		gaagaactcaatgtcaaccat	0.448								Chromatin Structure					6	13					0	0	1	0	0	G	4358185	A	G	4358185	3	3	204	1	0	0	0	0	1	0	0	0	14194	101	4	3	1320	3	SETMAR	3	4358185	Missense_Mutation	SNP	A	TCGA-FG-8186-01A-11D-2253-08		4358185	193664245	4	25172											
CLDN16	10686	broad.mit.edu	37	3	190120187	190120187	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-8186-01A-11D-2253-08	TCGA-FG-8186-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729f5374-cda6-4f84-8843-8d638ede22d1	033c9e3a-1498-4e9d-bbb1-2ab70851c8b8	g.chr3:190120187G>A	ENST00000264734.2	+	2	634	c.386G>A	c.(385-387)cGc>cAc	p.R129H	CLDN16_ENST00000468220.1_3'UTR|CLDN16_ENST00000456423.1_Intron	NM_006580.3	NP_006571.1	Q9Y5I7	CLD16_HUMAN	claudin 16	129					calcium-independent cell-cell adhesion|cellular metal ion homeostasis|excretion	integral to membrane|tight junction	identical protein binding|magnesium ion transmembrane transporter activity|structural molecule activity			breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|skin(1)	19	all_cancers(143;3.61e-10)|Ovarian(172;0.0991)		Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05)	GBM - Glioblastoma multiforme(93;0.018)		GATGGGATTCGCACCTGTGAT	0.488													21	161					0	0	1	0	0	A	190120187	G	A	190120187	3	1	204	1	0	0	0	0	1	0	0	0	3500	1087	38	1	392	1	CLDN16	3	190120187	Missense_Mutation	SNP	G	TCGA-FG-8186-01A-11D-2253-08	185762002	190120187	7902243	5	25173											
DKK2	27123	broad.mit.edu	37	4	107956552	107956552	+	Missense_Mutation	SNP	C	C	G			TCGA-FG-8186-01A-11D-2253-08	TCGA-FG-8186-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729f5374-cda6-4f84-8843-8d638ede22d1	033c9e3a-1498-4e9d-bbb1-2ab70851c8b8	g.chr4:107956552C>G	ENST00000285311.3	-	1	902	c.197G>C	c.(196-198)aGt>aCt	p.S66T	DKK2_ENST00000513208.1_Intron|DKK2_ENST00000510463.1_Intron	NM_014421.2	NP_055236.1	Q9UBU2	DKK2_HUMAN	dickkopf WNT signaling pathway inhibitor 2	66					multicellular organismal development|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	extracellular space				autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.34e-06)		GCCCTTCTTACTGCCGCCGAA	0.577													4	74					0	0	1	0	0	G	107956552	C	G	107956552	3	3	204	1	0	0	0	0	1	0	0	0	4573	565	20	4	598	4	DKK2	4	107956552	Missense_Mutation	SNP	C	TCGA-FG-8186-01A-11D-2253-08		107956552	83197724	6	25174											
GUCY1A3	2982	broad.mit.edu	37	4	156631972	156631972	+	Missense_Mutation	SNP	A	A	G			TCGA-FG-8186-01A-11D-2253-08	TCGA-FG-8186-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729f5374-cda6-4f84-8843-8d638ede22d1	033c9e3a-1498-4e9d-bbb1-2ab70851c8b8	g.chr4:156631972A>G	ENST00000296518.7	+	6	864	c.655A>G	c.(655-657)Ata>Gta	p.I219V	GUCY1A3_ENST00000506455.1_Missense_Mutation_p.I219V|GUCY1A3_ENST00000511507.1_Missense_Mutation_p.I219V|GUCY1A3_ENST00000455639.2_Missense_Mutation_p.I219V|GUCY1A3_ENST00000393832.3_5'UTR|GUCY1A3_ENST00000511108.1_Missense_Mutation_p.I219V|GUCY1A3_ENST00000513574.1_Missense_Mutation_p.I219V			Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3	219					blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		TCCCGGCATCATAAAGGCAGC	0.458													38	84					0	0	1	0	0	G	156631972	A	G	156631972	3	3	204	1	0	0	0	0	1	0	0	0	6935	217	8	3	669	3	GUCY1A3	4	156631972	Missense_Mutation	SNP	A	TCGA-FG-8186-01A-11D-2253-08	48675420	156631972	34522304	7	25175											
OR2Y1	134083	broad.mit.edu	37	5	180166657	180166657	+	Silent	SNP	G	G	T			TCGA-FG-8186-01A-11D-2253-08	TCGA-FG-8186-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729f5374-cda6-4f84-8843-8d638ede22d1	033c9e3a-1498-4e9d-bbb1-2ab70851c8b8	g.chr5:180166657G>T	ENST00000307832.2	-	1	442	c.402C>A	c.(400-402)gcC>gcA	p.A134A		NM_001001657.1	NP_001001657.1	Q8NGV0	OR2Y1_HUMAN	olfactory receptor, family 2, subfamily Y, member 1	134					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20	all_cancers(89;1.25e-05)|all_epithelial(37;4.36e-06)|Renal(175;0.000159)|Lung NSC(126;0.00317)|all_lung(126;0.0041)|Breast(19;0.114)	all_cancers(40;0.0834)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGTGCATGATGGCCATGTAGT	0.587													3	64					1	1	1	1	0	T	180166657	G	T	180166657	2	4	204	1	0	0	0	0	0	0	0	1	11083	1335	47	5		5	OR2Y1	5	180166657	Silent	SNP	G	TCGA-FG-8186-01A-11D-2253-08		180166657	748603	8	25176											
BTNL8	79908	broad.mit.edu	37	5	180338435	180338435	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-8186-01A-11D-2253-08	TCGA-FG-8186-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729f5374-cda6-4f84-8843-8d638ede22d1	033c9e3a-1498-4e9d-bbb1-2ab70851c8b8	g.chr5:180338435C>T	ENST00000231229.4	+	3	728	c.494C>T	c.(493-495)gCg>gTg	p.A165V	BTNL8_ENST00000400707.3_Missense_Mutation_p.A40V|BTNL8_ENST00000505126.1_5'UTR|BTNL8_ENST00000340184.4_Missense_Mutation_p.A165V|BTNL8_ENST00000511704.1_Missense_Mutation_p.A49V|BTNL8_ENST00000508408.1_Missense_Mutation_p.A165V|BTNL8_ENST00000533815.2_5'UTR	NM_001159708.1|NM_024850.2	NP_001153180.1|NP_079126.1	Q6UX41	BTNL8_HUMAN	butyrophilin-like 8	165	Ig-like V-type 2.					integral to membrane				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	28	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CGGCCCACAGCGAAGTGGAAA	0.537													14	268					0	0	1	0	0	T	180338435	C	T	180338435	3	4	204	1	0	0	0	0	1	0	0	0	1570	768	27	1	530	1	BTNL8	5	180338435	Missense_Mutation	SNP	C	TCGA-FG-8186-01A-11D-2253-08	171778	180338435	576825	9	25177											
PHF3	23469	broad.mit.edu	37	6	64394227	64394227	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FG-8186-01A-11D-2253-08	TCGA-FG-8186-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729f5374-cda6-4f84-8843-8d638ede22d1	033c9e3a-1498-4e9d-bbb1-2ab70851c8b8	g.chr6:64394227C>T	ENST00000262043.3	+	4	944	c.604C>T	c.(604-606)Cga>Tga	p.R202*	PHF3_ENST00000393387.1_Nonsense_Mutation_p.R202*|PHF3_ENST00000509330.1_Nonsense_Mutation_p.R202*			Q92576	PHF3_HUMAN	PHD finger protein 3	202					multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			AAGGTGCAGCCGAAATAGCGG	0.403													34	75					0	0	1	0	0	T	64394227	C	T	64394227	4	4	204	1	0	0	0	0	0	1	0	0	11884	644	23	1	614	1	PHF3	6	64394227	Nonsense_Mutation	SNP	C	TCGA-FG-8186-01A-11D-2253-08		64394227	106720840	10	25178											
DPY19L1	23333	broad.mit.edu	37	7	34977700	34977700	+	Missense_Mutation	SNP	T	T	A			TCGA-FG-8186-01A-11D-2253-08	TCGA-FG-8186-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729f5374-cda6-4f84-8843-8d638ede22d1	033c9e3a-1498-4e9d-bbb1-2ab70851c8b8	g.chr7:34977700T>A	ENST00000310974.4	-	21	1921	c.1777A>T	c.(1777-1779)Agt>Tgt	p.S593C		NM_015283.1	NP_056098.1	Q2PZI1	D19L1_HUMAN	dpy-19-like 1 (C. elegans)	593						integral to membrane				endometrium(3)|kidney(5)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	31						GCTTTCCGACTATACATTGAG	0.328													18	17					0	0	1	0	0	A	34977700	T	A	34977700	3	1	204	1	0	0	0	0	1	0	0	0	4766	1522	53	5	258	5	DPY19L1	7	34977700	Missense_Mutation	SNP	T	TCGA-FG-8186-01A-11D-2253-08		34977700	124160963	11	25179											
H2AFV	94239	broad.mit.edu	37	7	44875212	44875212	+	Missense_Mutation	SNP	G	G	T			TCGA-FG-8186-01A-11D-2253-08	TCGA-FG-8186-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729f5374-cda6-4f84-8843-8d638ede22d1	033c9e3a-1498-4e9d-bbb1-2ab70851c8b8	g.chr7:44875212G>T	ENST00000222690.6	-	4	346	c.241C>A	c.(241-243)Cgt>Agt	p.R81S	H2AFV_ENST00000349299.3_Missense_Mutation_p.R43S|H2AFV_ENST00000446531.1_Missense_Mutation_p.R81S|H2AFV_ENST00000350771.3_Missense_Mutation_p.R55S|H2AFV_ENST00000381124.5_Intron|H2AFV_ENST00000521529.1_Intron|H2AFV_ENST00000308153.4_Missense_Mutation_p.R81S|H2AFV_ENST00000437072.1_Missense_Mutation_p.R43S	NM_138635.3	NP_619541.1	Q71UI9	H2AV_HUMAN	H2A histone family, member V	81					nucleosome assembly	nucleosome|nucleus	DNA binding			endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|urinary_tract(1)	9						GGAGTGATACGCTTTACTTTG	0.448													3	73					1	1	1	1	0	T	44875212	G	T	44875212	3	4	204	1	0	0	0	0	1	0	0	0	6968	1087	38	5	177	5	H2AFV	7	44875212	Missense_Mutation	SNP	G	TCGA-FG-8186-01A-11D-2253-08	9897512	44875212	114263451	12	25180											
FLNC	2318	broad.mit.edu	37	7	128480693	128480693	+	Silent	SNP	G	G	A			TCGA-FG-8186-01A-11D-2253-08	TCGA-FG-8186-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729f5374-cda6-4f84-8843-8d638ede22d1	033c9e3a-1498-4e9d-bbb1-2ab70851c8b8	g.chr7:128480693G>A	ENST00000325888.8	+	10	1902	c.1641G>A	c.(1639-1641)gtG>gtA	p.V547V	FLNC_ENST00000346177.6_Silent_p.V547V	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	547					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						AGTATGTGGTGACCATCACGT	0.637													6	472					0	0	1	0	0	A	128480693	G	A	128480693	2	1	204	1	0	0	0	0	0	0	0	1	5968	1277	45	2		2	FLNC	7	128480693	Silent	SNP	G	TCGA-FG-8186-01A-11D-2253-08	83605481	128480693	30657970	13	25181											
TSPAN33	340348	broad.mit.edu	37	7	128804343	128804343	+	Missense_Mutation	SNP	A	A	G			TCGA-FG-8186-01A-11D-2253-08	TCGA-FG-8186-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729f5374-cda6-4f84-8843-8d638ede22d1	033c9e3a-1498-4e9d-bbb1-2ab70851c8b8	g.chr7:128804343A>G	ENST00000289407.4	+	5	501	c.392A>G	c.(391-393)aAc>aGc	p.N131S		NM_178562.3	NP_848657.1	Q86UF1	TSN33_HUMAN	tetraspanin 33	131						integral to membrane				NS(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	14						GAGATCATCAACAATGCCATT	0.493											OREG0018304	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	120	168					0	0	1	0	0	G	128804343	A	G	128804343	3	3	204	1	0	0	0	0	1	0	0	0	16709	43	2	3	410	3	TSPAN33	7	128804343	Missense_Mutation	SNP	A	TCGA-FG-8186-01A-11D-2253-08	323650	128804343	30334320	14	25182											
TBXAS1	6916	broad.mit.edu	37	7	139529240	139529240	+	Silent	SNP	G	G	A			TCGA-FG-8186-01A-11D-2253-08	TCGA-FG-8186-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729f5374-cda6-4f84-8843-8d638ede22d1	033c9e3a-1498-4e9d-bbb1-2ab70851c8b8	g.chr7:139529240G>A	ENST00000263552.6	+	5	592	c.54G>A	c.(52-54)acG>acA	p.T18T	TBXAS1_ENST00000436047.2_Silent_p.T18T|TBXAS1_ENST00000414508.2_Silent_p.T18T|TBXAS1_ENST00000425687.1_Intron|TBXAS1_ENST00000458722.1_Silent_p.T17T|TBXAS1_ENST00000455353.1_Silent_p.T17T|TBXAS1_ENST00000539806.1_Silent_p.T18T|TBXAS1_ENST00000462275.1_3'UTR|TBXAS1_ENST00000448866.1_Silent_p.T17T|TBXAS1_ENST00000411653.1_Silent_p.T17T|TBXAS1_ENST00000416849.2_Silent_p.T18T|TBXAS1_ENST00000336425.5_Silent_p.T17T	NM_001130966.2	NP_001124438	P24557	THAS_HUMAN	thromboxane A synthase 1 (platelet)	17					hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|thromboxane-A synthase activity			breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	28	Melanoma(164;0.0142)					CCATGGTGACGGTGGCCCTGT	0.572													3	59					0	0	1	0	0	A	139529240	G	A	139529240	2	1	204	1	0	0	0	0	0	0	0	1	15724	1103	39	1		1	TBXAS1	7	139529240	Silent	SNP	G	TCGA-FG-8186-01A-11D-2253-08	10724897	139529240	19609423	15	25183											
PARP12	64761	broad.mit.edu	37	7	139724493	139724493	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-8186-01A-11D-2253-08	TCGA-FG-8186-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729f5374-cda6-4f84-8843-8d638ede22d1	033c9e3a-1498-4e9d-bbb1-2ab70851c8b8	g.chr7:139724493G>A	ENST00000263549.3	-	12	2846	c.1973C>T	c.(1972-1974)cCc>cTc	p.P658L		NM_022750.2	NP_073587.1	Q9H0J9	PAR12_HUMAN	poly (ADP-ribose) polymerase family, member 12	658	PARP catalytic.					nucleus	NAD+ ADP-ribosyltransferase activity|nucleic acid binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	19	Melanoma(164;0.0142)					AAAGATGGAGGGGTCGGACAC	0.577													5	184					0	0	1	0	0	A	139724493	G	A	139724493	3	1	204	1	0	0	0	0	1	0	0	0	11504	1232	43	2	136	2	PARP12	7	139724493	Missense_Mutation	SNP	G	TCGA-FG-8186-01A-11D-2253-08	195253	139724493	19414170	16	25184											
CCIN	881	broad.mit.edu	37	9	36170121	36170121	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-8186-01A-11D-2253-08	TCGA-FG-8186-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729f5374-cda6-4f84-8843-8d638ede22d1	033c9e3a-1498-4e9d-bbb1-2ab70851c8b8	g.chr9:36170121C>T	ENST00000335119.2	+	1	733	c.622C>T	c.(622-624)Cgg>Tgg	p.R208W		NM_005893.2	NP_005884.2	Q13939	CALI_HUMAN	calicin	208	BACK.				cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton			breast(3)|endometrium(2)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(4)	21			STAD - Stomach adenocarcinoma(86;0.228)			GGTGTACTTCCGGAAGGAGGA	0.488													17	32					0	0	1	0	0	T	36170121	C	T	36170121	3	4	204	1	0	0	0	0	1	0	0	0	2898	643	23	1	624	1	CCIN	9	36170121	Missense_Mutation	SNP	C	TCGA-FG-8186-01A-11D-2253-08		36170121	105043310	17	25185											
ALDH1A1	216	broad.mit.edu	37	9	75520934	75520934	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-8186-01A-11D-2253-08	TCGA-FG-8186-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729f5374-cda6-4f84-8843-8d638ede22d1	033c9e3a-1498-4e9d-bbb1-2ab70851c8b8	g.chr9:75520934C>T	ENST00000297785.3	-	12	1427	c.1373G>A	c.(1372-1374)gGc>gAc	p.G458D		NM_000689.4	NP_000680.2	P00352	AL1A1_HUMAN	aldehyde dehydrogenase 1 family, member A1	458					cellular aldehyde metabolic process|ethanol oxidation|xenobiotic metabolic process	cytosol	aldehyde dehydrogenase (NAD) activity|androgen binding|Ras GTPase activator activity|retinal dehydrogenase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)	17					NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)	ACTTACCACGCCATAGCAATT	0.343													14	39					0	0	1	0	0	T	75520934	C	T	75520934	3	4	204	1	0	0	0	0	1	0	0	0	487	739	26	2	140	2	ALDH1A1	9	75520934	Missense_Mutation	SNP	C	TCGA-FG-8186-01A-11D-2253-08	39350813	75520934	65692497	18	25186											
NOTCH1	4851	broad.mit.edu	37	9	139412245	139412245	+	Missense_Mutation	SNP	C	C	A			TCGA-FG-8186-01A-11D-2253-08	TCGA-FG-8186-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729f5374-cda6-4f84-8843-8d638ede22d1	033c9e3a-1498-4e9d-bbb1-2ab70851c8b8	g.chr9:139412245C>A	ENST00000277541.6	-	8	1475	c.1400G>T	c.(1399-1401)tGc>tTc	p.C467F		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	467	EGF-like 12; calcium-binding (Potential).				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CTGGTCCAGGCAGGTGGCGTC	0.677			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			5	104					0.217242	0.223927	1	1	0	A	139412245	C	A	139412245	3	1	204	1	0	0	0	0	1	0	0	0	10594	710	25	5	6375	5	NOTCH1	9	139412245	Missense_Mutation	SNP	C	TCGA-FG-8186-01A-11D-2253-08	63891311	139412245	1801186	19	25187											
DPP7	29952	broad.mit.edu	37	9	140006206	140006206	+	Splice_Site	SNP	T	T	C			TCGA-FG-8186-01A-11D-2253-08	TCGA-FG-8186-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729f5374-cda6-4f84-8843-8d638ede22d1	033c9e3a-1498-4e9d-bbb1-2ab70851c8b8	g.chr9:140006206T>C	ENST00000371579.2	-	11	1212	c.1208A>G	c.(1207-1209)gAt>gGt	p.D403G		NM_013379.2	NP_037511.2	Q9UHL4	DPP2_HUMAN	dipeptidyl-peptidase 7	403						cytoplasmic membrane-bounded vesicle|extracellular region|lysosome	aminopeptidase activity|protein binding|serine-type peptidase activity			endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	7	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;4.25e-05)|Epithelial(140;0.000633)		GGCTCTGAGATCTGCAAGGGG	0.652													3	82					0	0	1	0	0	C	140006206	T	C	140006206	5	2	204	1	0	0	0	0	0	0	1	0	4757	1449	50	3	282	3	DPP7	9	140006206	Splice_Site	SNP	T	TCGA-FG-8186-01A-11D-2253-08	593961	140006206	1207225	20	25188											
LOXL4	84171	broad.mit.edu	37	10	100012144	100012144	+	Silent	SNP	G	G	A			TCGA-FG-8186-01A-11D-2253-08	TCGA-FG-8186-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729f5374-cda6-4f84-8843-8d638ede22d1	033c9e3a-1498-4e9d-bbb1-2ab70851c8b8	g.chr10:100012144G>A	ENST00000260702.3	-	12	2067	c.1917C>T	c.(1915-1917)gcC>gcT	p.A639A	RP11-34A14.3_ENST00000433374.1_RNA	NM_032211.6	NP_115587.6	Q96JB6	LOXL4_HUMAN	lysyl oxidase-like 4	639	Lysyl-oxidase like.					extracellular space|membrane	copper ion binding|protein binding|scavenger receptor activity			breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(8)|ovary(4)|prostate(1)|skin(2)	26		Colorectal(252;0.234)		Epithelial(162;2.14e-11)|all cancers(201;2.49e-09)		GACAGAAGCTGGCCTTGTGCC	0.532													22	203					0	0	1	0	0	A	100012144	G	A	100012144	2	1	204	1	0	0	0	0	0	0	0	1	8947	1335	47	2		2	LOXL4	10	100012144	Silent	SNP	G	TCGA-FG-8186-01A-11D-2253-08		100012144	35522603	21	25189											
ARNTL	406	broad.mit.edu	37	11	13402768	13402768	+	Silent	SNP	T	T	C			TCGA-FG-8186-01A-11D-2253-08	TCGA-FG-8186-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729f5374-cda6-4f84-8843-8d638ede22d1	033c9e3a-1498-4e9d-bbb1-2ab70851c8b8	g.chr11:13402768T>C	ENST00000401424.1	+	18	1981	c.1455T>C	c.(1453-1455)ccT>ccC	p.P485P	ARNTL_ENST00000389708.3_3'UTR|ARNTL_ENST00000389707.4_Silent_p.P527P|ARNTL_ENST00000403482.3_Silent_p.P526P|ARNTL_ENST00000361003.4_Silent_p.P410P|ARNTL_ENST00000403510.3_Silent_p.P484P|ARNTL_ENST00000396441.3_Silent_p.P527P|ARNTL_ENST00000403290.1_Silent_p.P528P	NM_001030273.1	NP_001025444.1	O00327	BMAL1_HUMAN	aryl hydrocarbon receptor nuclear translocator-like	528					circadian rhythm|positive regulation of transcription from RNA polymerase II promoter	transcription factor complex	aryl hydrocarbon receptor binding|DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|endometrium(2)|large_intestine(11)|lung(5)|upper_aerodigestive_tract(1)	20				Epithelial(150;0.0243)		CGAGTACGCCTCCCCCTGATG	0.488													3	152					0	0	1	0	0	C	13402768	T	C	13402768	2	2	204	1	0	0	0	0	0	0	0	1	966	1538	54	3		3	ARNTL	11	13402768	Silent	SNP	T	TCGA-FG-8186-01A-11D-2253-08		13402768	121603748	22	25190											
NR1H3	10062	broad.mit.edu	37	11	47281984	47281984	+	Missense_Mutation	SNP	A	A	G			TCGA-FG-8186-01A-11D-2253-08	TCGA-FG-8186-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729f5374-cda6-4f84-8843-8d638ede22d1	033c9e3a-1498-4e9d-bbb1-2ab70851c8b8	g.chr11:47281984A>G	ENST00000467728.1	+	3	1495	c.257A>G	c.(256-258)aAg>aGg	p.K86R	NR1H3_ENST00000405853.3_Missense_Mutation_p.K86R|NR1H3_ENST00000481889.2_Missense_Mutation_p.K41R|NR1H3_ENST00000441012.2_Missense_Mutation_p.K86R|NR1H3_ENST00000395397.3_Missense_Mutation_p.K41R|NR1H3_ENST00000405576.1_Missense_Mutation_p.K41R|NR1H3_ENST00000407404.1_Missense_Mutation_p.K86R|NR1H3_ENST00000529540.1_3'UTR|NR1H3_ENST00000527949.1_5'UTR			Q13133	NR1H3_HUMAN	nuclear receptor subfamily 1, group H, member 3	86					apoptotic cell clearance|cellular response to lipopolysaccharide|cholesterol homeostasis|negative regulation of cholesterol storage|negative regulation of inflammatory response|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of lipid transport|negative regulation of macrophage activation|negative regulation of pancreatic juice secretion|negative regulation of pinocytosis|negative regulation of secretion of lysosomal enzymes|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of cholesterol homeostasis|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of receptor biosynthetic process|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of triglyceride biosynthetic process|regulation of circadian rhythm|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to progesterone stimulus|triglyceride homeostasis	nuclear chromatin|nucleoplasm	cholesterol binding|steroid hormone receptor activity|sterol response element binding|transcription coactivator activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(5)	20						AAGCGGAAAAAGGGGCCAGCC	0.567													4	103					0	0	1	0	0	G	47281984	A	G	47281984	3	3	204	1	0	0	0	0	1	0	0	0	10666	72	3	3	267	3	NR1H3	11	47281984	Missense_Mutation	SNP	A	TCGA-FG-8186-01A-11D-2253-08	33879216	47281984	87724532	23	25191											
FNBP4	23360	broad.mit.edu	37	11	47755624	47755624	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-8186-01A-11D-2253-08	TCGA-FG-8186-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729f5374-cda6-4f84-8843-8d638ede22d1	033c9e3a-1498-4e9d-bbb1-2ab70851c8b8	g.chr11:47755624T>C	ENST00000263773.5	-	10	1651	c.1639A>G	c.(1639-1641)Aat>Gat	p.N547D	FNBP4_ENST00000534003.1_5'UTR	NM_015308.2	NP_056123.2	Q8N3X1	FNBP4_HUMAN	formin binding protein 4	547										NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	44						GATTGTCTATTAATGCCTAGA	0.328													21	38					0	0	1	0	0	C	47755624	T	C	47755624	3	2	204	1	0	0	0	0	1	0	0	0	6000	1754	61	3	1446	3	FNBP4	11	47755624	Missense_Mutation	SNP	T	TCGA-FG-8186-01A-11D-2253-08	473640	47755624	87250892	24	25192											
RBM4B	83759	broad.mit.edu	37	11	66436387	66436387	+	Missense_Mutation	SNP	A	A	G			TCGA-FG-8186-01A-11D-2253-08	TCGA-FG-8186-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729f5374-cda6-4f84-8843-8d638ede22d1	033c9e3a-1498-4e9d-bbb1-2ab70851c8b8	g.chr11:66436387A>G	ENST00000525754.1	-	2	1456	c.788T>C	c.(787-789)cTc>cCc	p.L263P	RBM4B_ENST00000531969.1_Intron|RBM4B_ENST00000310046.4_Missense_Mutation_p.L263P			Q9BQ04	RBM4B_HUMAN	RNA binding motif protein 4B	263	Interaction with TNPO3 (By similarity).				circadian regulation of gene expression|entrainment of circadian clock by photoperiod|mRNA processing|RNA splicing	nucleolus	nucleotide binding|RNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(4)|lung(1)|urinary_tract(2)	10						AGTAGAGTTGAGGTGGCTGGT	0.562													3	141					0	0	1	0	0	G	66436387	A	G	66436387	3	3	204	1	0	0	0	0	1	0	0	0	13194	304	11	3	295	3	RBM4B	11	66436387	Missense_Mutation	SNP	A	TCGA-FG-8186-01A-11D-2253-08	18680763	66436387	68570129	25	25193											
PCF11	51585	broad.mit.edu	37	11	82877743	82877743	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-8186-01A-11D-2253-08	TCGA-FG-8186-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729f5374-cda6-4f84-8843-8d638ede22d1	033c9e3a-1498-4e9d-bbb1-2ab70851c8b8	g.chr11:82877743G>A	ENST00000298281.4	+	5	2256	c.1804G>A	c.(1804-1806)Gaa>Aaa	p.E602K		NM_015885.3	NP_056969.2	O94913	PCF11_HUMAN	PCF11 cleavage and polyadenylation factor subunit	602					mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage factor complex				cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						ATCTGGTTGGGAAGAAAATAA	0.318													27	46					0	0	1	0	0	A	82877743	G	A	82877743	3	1	204	1	0	0	0	0	1	0	0	0	11620	1175	41	2	1822	2	PCF11	11	82877743	Missense_Mutation	SNP	G	TCGA-FG-8186-01A-11D-2253-08	16441356	82877743	52128773	26	25194											
DBX2	440097	broad.mit.edu	37	12	45410365	45410365	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-8186-01A-11D-2253-08	TCGA-FG-8186-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729f5374-cda6-4f84-8843-8d638ede22d1	033c9e3a-1498-4e9d-bbb1-2ab70851c8b8	g.chr12:45410365G>A	ENST00000332700.6	-	4	895	c.724C>T	c.(724-726)Cgg>Tgg	p.R242W		NM_001004329.2	NP_001004329.2	Q6ZNG2	DBX2_HUMAN	developing brain homeobox 2	242						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	22	Lung SC(27;0.192)	Lung NSC(34;0.142)		GBM - Glioblastoma multiforme(48;0.0515)		TTGGAATTCCGCCATTTCATC	0.403													13	140					0	0	1	0	0	A	45410365	G	A	45410365	3	1	204	1	0	0	0	0	1	0	0	0	4284	1086	38	1	299	1	DBX2	12	45410365	Missense_Mutation	SNP	G	TCGA-FG-8186-01A-11D-2253-08		45410365	88441530	27	25195											
RNF17	56163	broad.mit.edu	37	13	25428134	25428134	+	Silent	SNP	G	G	A			TCGA-FG-8186-01A-11D-2253-08	TCGA-FG-8186-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729f5374-cda6-4f84-8843-8d638ede22d1	033c9e3a-1498-4e9d-bbb1-2ab70851c8b8	g.chr13:25428134G>A	ENST00000255324.5	+	25	3514	c.3462G>A	c.(3460-3462)caG>caA	p.Q1154Q	RNF17_ENST00000381921.1_Silent_p.Q1154Q|RNF17_ENST00000339524.3_Silent_p.Q206Q	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	1154					multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		TCAGTGAACAGAAAGTGTCTG	0.403													26	34					0	0	1	0	0	A	25428134	G	A	25428134	2	1	204	1	0	0	0	0	0	0	0	1	13513	933	33	2		2	RNF17	13	25428134	Silent	SNP	G	TCGA-FG-8186-01A-11D-2253-08		25428134	89741744	28	25196											
CCDC70	83446	broad.mit.edu	37	13	52439604	52439604	+	Silent	SNP	G	G	A	rs112168960		TCGA-FG-8186-01A-11D-2253-08	TCGA-FG-8186-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729f5374-cda6-4f84-8843-8d638ede22d1	033c9e3a-1498-4e9d-bbb1-2ab70851c8b8	g.chr13:52439604G>A	ENST00000242819.4	+	2	386	c.90G>A	c.(88-90)gcG>gcA	p.A30A		NM_031290.2	NP_112580.2	Q6NSX1	CCD70_HUMAN	coiled-coil domain containing 70	30						extracellular region|plasma membrane		p.A30A(1)		breast(1)|large_intestine(4)|lung(7)|skin(2)|urinary_tract(1)	15		Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.0107)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;2.4e-08)		GGTCCCTGGCGGCATCCTCTC	0.507													14	126					0	0	1	0	0	A	52439604	G	A	52439604	2	1	204	1	0	0	0	0	0	0	0	1	2863	1103	39	1		1	CCDC70	13	52439604	Silent	SNP	G	TCGA-FG-8186-01A-11D-2253-08	27011470	52439604	62730274	29	25197											
CDKN3	1033	broad.mit.edu	37	14	54884631	54884631	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FG-8186-01A-11D-2253-08	TCGA-FG-8186-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729f5374-cda6-4f84-8843-8d638ede22d1	033c9e3a-1498-4e9d-bbb1-2ab70851c8b8	g.chr14:54884631C>T	ENST00000556102.2	+	7	580	c.514C>T	c.(514-516)Cga>Tga	p.R172*	CDKN3_ENST00000335183.6_Nonsense_Mutation_p.R172*|CDKN3_ENST00000458126.2_Nonsense_Mutation_p.R171*|CDKN3_ENST00000543789.2_3'UTR|CDKN3_ENST00000442975.2_Nonsense_Mutation_p.R132*|CDKN3_ENST00000556305.1_3'UTR|CDKN3_ENST00000395577.2_Nonsense_Mutation_p.R126*			Q16667	CDKN3_HUMAN	cyclin-dependent kinase inhibitor 3	172					cell cycle arrest|G1/S transition of mitotic cell cycle|negative regulation of cell proliferation|regulation of cyclin-dependent protein kinase activity	perinuclear region of cytoplasm	protein binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			breast(2)|stomach(1)	3						AGACAGCCTGCGAGACCTAAG	0.458													9	15					0	0	1	0	0	T	54884631	C	T	54884631	4	4	204	1	0	0	0	0	0	1	0	0	3189	760	27	1	540	1	CDKN3	14	54884631	Nonsense_Mutation	SNP	C	TCGA-FG-8186-01A-11D-2253-08		54884631	52464909	30	25198											
CLMN	79789	broad.mit.edu	37	14	95670323	95670323	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-8186-01A-11D-2253-08	TCGA-FG-8186-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729f5374-cda6-4f84-8843-8d638ede22d1	033c9e3a-1498-4e9d-bbb1-2ab70851c8b8	g.chr14:95670323C>T	ENST00000298912.4	-	9	1476	c.1363G>A	c.(1363-1365)Gaa>Aaa	p.E455K		NM_024734.3	NP_079010.2	Q96JQ2	CLMN_HUMAN	calmin (calponin-like, transmembrane)	455						integral to membrane	actin binding			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(17)|prostate(3)|skin(3)	44				Epithelial(152;0.193)		CTCAATGATTCCTTTGCCACT	0.468													14	37					0	0	1	0	0	T	95670323	C	T	95670323	3	4	204	1	0	0	0	0	1	0	0	0	3565	864	30	2	1665	2	CLMN	14	95670323	Missense_Mutation	SNP	C	TCGA-FG-8186-01A-11D-2253-08	40785692	95670323	11679217	31	25199											
HDC	3067	broad.mit.edu	37	15	50534698	50534698	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-8186-01A-11D-2253-08	TCGA-FG-8186-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729f5374-cda6-4f84-8843-8d638ede22d1	033c9e3a-1498-4e9d-bbb1-2ab70851c8b8	g.chr15:50534698C>T	ENST00000267845.3	-	12	2150	c.1748G>A	c.(1747-1749)cGc>cAc	p.R583H	HDC_ENST00000543581.1_Missense_Mutation_p.R550H	NM_002112.3	NP_002103.2	P19113	DCHS_HUMAN	histidine decarboxylase	583					catecholamine biosynthetic process|histidine metabolic process		histidine decarboxylase activity	p.R583L(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		all_lung(180;0.0138)		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)	L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114)	ACTGAGGGAGCGCACCGTCTT	0.542													91	173					0	0	1	0	0	T	50534698	C	T	50534698	3	4	204	1	0	0	0	0	1	0	0	0	7056	768	27	1	244	1	HDC	15	50534698	Missense_Mutation	SNP	C	TCGA-FG-8186-01A-11D-2253-08		50534698	51996694	32	25200											
GGT6	124975	broad.mit.edu	37	17	4463042	4463042	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-8186-01A-11D-2253-08	TCGA-FG-8186-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729f5374-cda6-4f84-8843-8d638ede22d1	033c9e3a-1498-4e9d-bbb1-2ab70851c8b8	g.chr17:4463042C>T	ENST00000301395.3	-	2	213	c.154G>A	c.(154-156)Ggg>Agg	p.G52R	GGT6_ENST00000574154.1_Missense_Mutation_p.G52R|GGT6_ENST00000381550.3_Missense_Mutation_p.G52R|GGT6_ENST00000573591.1_5'UTR	NM_153338.2	NP_699169.2	Q6P531	GGT6_HUMAN	gamma-glutamyltransferase 6	52					glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity	p.G52W(1)		endometrium(2)|large_intestine(1)|lung(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						CCGGGCAGCCCGCCAGCCTTG	0.652													7	41					0	0	1	0	0	T	4463042	C	T	4463042	3	4	204	1	0	0	0	0	1	0	0	0	6405	652	23	1	1339	1	GGT6	17	4463042	Missense_Mutation	SNP	C	TCGA-FG-8186-01A-11D-2253-08		4463042	76732168	33	25201											
DNAH2	146754	broad.mit.edu	37	17	7683487	7683487	+	Missense_Mutation	SNP	G	G	A	rs147216751		TCGA-FG-8186-01A-11D-2253-08	TCGA-FG-8186-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729f5374-cda6-4f84-8843-8d638ede22d1	033c9e3a-1498-4e9d-bbb1-2ab70851c8b8	g.chr17:7683487G>A	ENST00000572933.1	+	37	7195	c.5735G>A	c.(5734-5736)cGc>cAc	p.R1912H	DNAH2_ENST00000389173.2_Missense_Mutation_p.R1912H			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	1912	AAA 1 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TATGCTGGCCGCACAGAGCTT	0.463													4	271					0	0	1	0	0	A	7683487	G	A	7683487	3	1	204	1	0	0	0	0	1	0	0	0	4630	1087	38	1	5877	1	DNAH2	17	7683487	Missense_Mutation	SNP	G	TCGA-FG-8186-01A-11D-2253-08	3220445	7683487	73511723	34	25202											
KRT35	3886	broad.mit.edu	37	17	39635168	39635168	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-8186-01A-11D-2253-08	TCGA-FG-8186-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729f5374-cda6-4f84-8843-8d638ede22d1	033c9e3a-1498-4e9d-bbb1-2ab70851c8b8	g.chr17:39635168C>T	ENST00000246639.2	-	4	833	c.701G>A	c.(700-702)cGa>cAa	p.R234Q	KRT35_ENST00000393989.1_Missense_Mutation_p.R264Q			Q92764	KRT35_HUMAN	keratin 35	264	Coil 1B.|Rod.				anatomical structure morphogenesis	intermediate filament	protein binding|structural molecule activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29		Breast(137;0.000286)				CTCCAGAACTCGGTTCAGGTC	0.552													6	77					0	0	1	0	0	T	39635168	C	T	39635168	3	4	204	1	0	0	0	0	1	0	0	0	8515	884	31	1	592	1	KRT35	17	39635168	Missense_Mutation	SNP	C	TCGA-FG-8186-01A-11D-2253-08	31951681	39635168	41560042	35	25203											
STAT5B	6777	broad.mit.edu	37	17	40384082	40384082	+	Missense_Mutation	SNP	A	A	T			TCGA-FG-8186-01A-11D-2253-08	TCGA-FG-8186-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729f5374-cda6-4f84-8843-8d638ede22d1	033c9e3a-1498-4e9d-bbb1-2ab70851c8b8	g.chr17:40384082A>T	ENST00000293328.3	-	2	232	c.64T>A	c.(64-66)Tat>Aat	p.Y22N		NM_012448.3	NP_036580.2	P51692	STA5B_HUMAN	signal transducer and activator of transcription 5B	22					2-oxoglutarate metabolic process|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|JAK-STAT cascade involved in growth hormone signaling pathway|oxaloacetate metabolic process|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cytosol|nucleoplasm	calcium ion binding|glucocorticoid receptor binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_cancers(22;4.15e-07)|all_epithelial(22;2.83e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.135)	Dasatinib(DB01254)	TGCTGGCCATATAACGCTTGC	0.443													5	98					0	0	1	0	0	T	40384082	A	T	40384082	3	4	204	1	0	0	0	0	1	0	0	0	15325	449	16	4	2371	4	STAT5B	17	40384082	Missense_Mutation	SNP	A	TCGA-FG-8186-01A-11D-2253-08	748914	40384082	40811128	36	25204											
DDX5	1655	broad.mit.edu	37	17	62498337	62498337	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-8186-01A-11D-2253-08	TCGA-FG-8186-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729f5374-cda6-4f84-8843-8d638ede22d1	033c9e3a-1498-4e9d-bbb1-2ab70851c8b8	g.chr17:62498337G>A	ENST00000225792.5	-	10	1500	c.1099C>T	c.(1099-1101)Cct>Tct	p.P367S	DDX5_ENST00000578804.1_Missense_Mutation_p.P367S|DDX5_ENST00000450599.2_Missense_Mutation_p.P288S	NM_004396.3	NP_004387.1	P17844	DDX5_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 5	367	Helicase C-terminal.				cell growth|regulation of alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|mRNA binding|protein binding|RNA helicase activity|transcription cofactor activity			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	19	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;8.6e-12)			CCCATGGCAGGCCACCTAAGT	0.398			T	ETV4	prostate								3	33					0	0	1	0	0	A	62498337	G	A	62498337	3	1	204	1	0	0	0	0	1	0	0	0	4390	1203	42	2	761	2	DDX5	17	62498337	Missense_Mutation	SNP	G	TCGA-FG-8186-01A-11D-2253-08	22114255	62498337	18696873	37	25205											
NOL4	8715	broad.mit.edu	37	18	31538334	31538334	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-8186-01A-11D-2253-08	TCGA-FG-8186-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729f5374-cda6-4f84-8843-8d638ede22d1	033c9e3a-1498-4e9d-bbb1-2ab70851c8b8	g.chr18:31538334C>T	ENST00000261592.5	-	7	1402	c.1105G>A	c.(1105-1107)Gta>Ata	p.V369I	NOL4_ENST00000535475.1_Missense_Mutation_p.V214I|NOL4_ENST00000589544.1_Missense_Mutation_p.V369I|NOL4_ENST00000535384.1_Missense_Mutation_p.V84I|NOL4_ENST00000538587.1_Missense_Mutation_p.V295I|NOL4_ENST00000269185.4_Missense_Mutation_p.V255I	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN	nucleolar protein 4	369						nucleolus	RNA binding			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						CCTCGGTCTACACTCTCATTT	0.448													54	127					0	0	1	0	0	T	31538334	C	T	31538334	3	4	204	1	0	0	0	0	1	0	0	0	10571	478	17	2	831	2	NOL4	18	31538334	Missense_Mutation	SNP	C	TCGA-FG-8186-01A-11D-2253-08		31538334	46538914	38	25206											
PNMAL2	57469	broad.mit.edu	37	19	46998156	46998156	+	Silent	SNP	G	G	A			TCGA-FG-8186-01A-11D-2253-08	TCGA-FG-8186-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729f5374-cda6-4f84-8843-8d638ede22d1	033c9e3a-1498-4e9d-bbb1-2ab70851c8b8	g.chr19:46998156G>A	ENST00000599531.1	-	1	1599	c.567C>T	c.(565-567)ccC>ccT	p.P189P	PNMAL2_ENST00000377655.2_Silent_p.P189P|PNMAL2_ENST00000594749.1_Intron|AC011484.1_ENST00000377652.3_Silent_p.A89A	NM_020709.1	NP_065760.1	Q9ULN7	PNML2_HUMAN	paraneoplastic Ma antigen family-like 2	189										central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(4)	8		Ovarian(192;0.00965)|all_neural(266;0.0459)		OV - Ovarian serous cystadenocarcinoma(262;0.000322)|all cancers(93;0.00233)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)		CACTCCTCGCGGGAGCAGACG	0.647													3	39					0	0	1	0	0	A	46998156	G	A	46998156	2	1	204	1	0	0	0	0	0	0	0	1	12206	1103	39	1		1	PNMAL2	19	46998156	Silent	SNP	G	TCGA-FG-8186-01A-11D-2253-08		46998156	12130827	39	25207											
BIRC8	112401	broad.mit.edu	37	19	53793157	53793157	+	Silent	SNP	C	C	T			TCGA-FG-8186-01A-11D-2253-08	TCGA-FG-8186-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729f5374-cda6-4f84-8843-8d638ede22d1	033c9e3a-1498-4e9d-bbb1-2ab70851c8b8	g.chr19:53793157C>T	ENST00000426466.1	-	1	1718	c.471G>A	c.(469-471)caG>caA	p.Q157Q		NM_033341.4	NP_203127.3	Q96P09	BIRC8_HUMAN	baculoviral IAP repeat containing 8	157					apoptosis		zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|urinary_tract(1)	19				GBM - Glioblastoma multiforme(134;0.00304)		TAGTGTCTTTCTGAGCGCTCA	0.408													3	52					0	0	1	0	0	T	53793157	C	T	53793157	2	4	204	1	0	0	0	0	0	0	0	1	1439	912	32	2		2	BIRC8	19	53793157	Silent	SNP	C	TCGA-FG-8186-01A-11D-2253-08	6795001	53793157	5335826	40	25208											
CXorf22	170063	broad.mit.edu	37	X	35966455	35966455	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-8186-01A-11D-2253-08	TCGA-FG-8186-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729f5374-cda6-4f84-8843-8d638ede22d1	033c9e3a-1498-4e9d-bbb1-2ab70851c8b8	g.chrX:35966455G>A	ENST00000297866.5	+	4	608	c.542G>A	c.(541-543)gGc>gAc	p.G181D		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	181										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						GAATACCACGGCCAATTACCC	0.413													60	116					0	0	1	0	0	A	35966455	G	A	35966455	3	1	204	1	0	0	0	0	1	0	0	0	4125	1203	42	2	556	2	CXorf22	23	35966455	Missense_Mutation	SNP	G	TCGA-FG-8186-01A-11D-2253-08		35966455	119304105	41	25209											
CXorf22	170063	broad.mit.edu	37	X	35993797	35993797	+	Missense_Mutation	SNP	C	C	A			TCGA-FG-8186-01A-11D-2253-08	TCGA-FG-8186-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729f5374-cda6-4f84-8843-8d638ede22d1	033c9e3a-1498-4e9d-bbb1-2ab70851c8b8	g.chrX:35993797C>A	ENST00000297866.5	+	15	2546	c.2480C>A	c.(2479-2481)aCc>aAc	p.T827N		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	827								p.T827N(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						AGGTCTTTCACCTTTACAGTG	0.383													38	57					1.62957e-23	1.76099e-23	1	1	0	A	35993797	C	A	35993797	3	1	204	1	0	0	0	0	1	0	0	0	4125	507	18	5	2538	5	CXorf22	23	35993797	Missense_Mutation	SNP	C	TCGA-FG-8186-01A-11D-2253-08	27342	35993797	119276763	42	25210											
FAM47C	442444	broad.mit.edu	37	X	37027156	37027156	+	Missense_Mutation	SNP	C	C	G			TCGA-FG-8186-01A-11D-2253-08	TCGA-FG-8186-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729f5374-cda6-4f84-8843-8d638ede22d1	033c9e3a-1498-4e9d-bbb1-2ab70851c8b8	g.chrX:37027156C>G	ENST00000358047.3	+	1	725	c.673C>G	c.(673-675)Cag>Gag	p.Q225E		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	225										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						TCTCCGCCCACAGCCTCCCAA	0.647													4	89					0	0	1	0	0	G	37027156	C	G	37027156	3	3	204	1	0	0	0	0	1	0	0	0	5607	479	17	5	675	5	FAM47C	23	37027156	Missense_Mutation	SNP	C	TCGA-FG-8186-01A-11D-2253-08	1033359	37027156	118243404	43	25211											
DDX3X	1654	broad.mit.edu	37	X	41202025	41202025	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-8186-01A-11D-2253-08	TCGA-FG-8186-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729f5374-cda6-4f84-8843-8d638ede22d1	033c9e3a-1498-4e9d-bbb1-2ab70851c8b8	g.chrX:41202025T>C	ENST00000399959.2	+	6	1334	c.479T>C	c.(478-480)tTt>tCt	p.F160S	DDX3X_ENST00000542215.1_Missense_Mutation_p.F204S|DDX3X_ENST00000457138.2_Missense_Mutation_p.F144S|DDX3X_ENST00000478993.1_3'UTR|DDX3X_ENST00000441189.2_Intron	NM_001193416.1|NM_001193417.1|NM_001356.3	NP_001180345.1|NP_001180346.1|NP_001347.3	O00571	DDX3X_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked	160					interspecies interaction between organisms	cytoplasm|nuclear speck	ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding|RNA binding			NS(3)|breast(8)|central_nervous_system(36)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84						GGGATTAATTTTGAGAAATAC	0.368										HNSCC(61;0.18)			6	92					0	0	1	0	0	C	41202025	T	C	41202025	3	2	204	1	0	0	0	0	1	0	0	0	4381	1841	64	3	501	3	DDX3X	23	41202025	Missense_Mutation	SNP	T	TCGA-FG-8186-01A-11D-2253-08	4174869	41202025	114068535	44	25212											
SSX5	6758	broad.mit.edu	37	X	48053622	48053622	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-8186-01A-11D-2253-08	TCGA-FG-8186-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729f5374-cda6-4f84-8843-8d638ede22d1	033c9e3a-1498-4e9d-bbb1-2ab70851c8b8	g.chrX:48053622G>A	ENST00000311798.1	-	5	398	c.346C>T	c.(346-348)Cgg>Tgg	p.R116W	SSX5_ENST00000347757.1_Missense_Mutation_p.R75W|SSX5_ENST00000376923.1_Missense_Mutation_p.R75W	NM_021015.3	NP_066295.3	O60225	SSX5_HUMAN	synovial sarcoma, X breakpoint 5	75					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding			endometrium(3)|kidney(1)|large_intestine(6)|lung(7)|skin(1)	18						TCTGCGACCCGTTTATTACGC	0.488													5	206					0	0	1	0	0	A	48053622	G	A	48053622	3	1	204	1	0	0	0	0	1	0	0	0	15264	1144	40	1	359	1	SSX5	23	48053622	Missense_Mutation	SNP	G	TCGA-FG-8186-01A-11D-2253-08	6851597	48053622	107216938	45	25213											
GRIA3	2892	broad.mit.edu	37	X	122598965	122598965	+	Splice_Site	SNP	T	T	A			TCGA-FG-8186-01A-11D-2253-08	TCGA-FG-8186-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729f5374-cda6-4f84-8843-8d638ede22d1	033c9e3a-1498-4e9d-bbb1-2ab70851c8b8	g.chrX:122598965T>A	ENST00000264357.5	+	13	2616		c.e13+2		GRIA3_ENST00000542149.1_Splice_Site|GRIA3_ENST00000371251.1_Splice_Site|AL356213.1_ENST00000577653.1_RNA|GRIA3_ENST00000371256.5_Splice_Site	NM_000828.4	NP_000819	P42263	GRIA3_HUMAN	glutamate receptor, ionotropic, AMPA 3						glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					L-Glutamic Acid(DB00142)	AGCATTAAGGTGGGTGGAATA	0.393													8	109					0	0	1	0	0	A	122598965	T	A	122598965	5	1	204	1	0	0	0	0	0	0	1	0	6810	1710	59	5	2376	5	GRIA3	23	122598965	Splice_Site	SNP	T	TCGA-FG-8186-01A-11D-2253-08	74545343	122598965	32671595	46	25214											
ATP2B3	492	broad.mit.edu	37	X	152807342	152807342	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-8186-01A-11D-2253-08	TCGA-FG-8186-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729f5374-cda6-4f84-8843-8d638ede22d1	033c9e3a-1498-4e9d-bbb1-2ab70851c8b8	g.chrX:152807342G>A	ENST00000370186.1	+	4	948	c.622G>A	c.(622-624)Gtg>Atg	p.V208M	ATP2B3_ENST00000393842.1_Missense_Mutation_p.V208M|ATP2B3_ENST00000370181.2_Missense_Mutation_p.V208M|ATP2B3_ENST00000263519.4_Missense_Mutation_p.V208M|ATP2B3_ENST00000349466.2_Missense_Mutation_p.V208M|ATP2B3_ENST00000359149.3_Missense_Mutation_p.V208M			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	208					ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCAGGTCCCCGTGGCTGCGCT	0.622													6	147					0	0	1	0	0	A	152807342	G	A	152807342	3	1	204	1	0	0	0	0	1	0	0	0	1140	1145	40	1	632	1	ATP2B3	23	152807342	Missense_Mutation	SNP	G	TCGA-FG-8186-01A-11D-2253-08	30208377	152807342	2463218	47	25215											
KCNQ4	9132	broad.mit.edu	37	1	41283890	41283890	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-8187-01A-11D-2253-08	TCGA-FG-8187-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03ef1338-e963-4cc2-a596-27334a685da3	ae886eb1-4d03-4bb3-b9b4-ad379272ab7a	g.chr1:41283890G>A	ENST00000347132.5	+	3	542	c.460G>A	c.(460-462)Gcc>Acc	p.A154T	KCNQ4_ENST00000509682.2_Missense_Mutation_p.A154T	NM_004700.3|NM_172163.2	NP_004691.2|NP_751895.1	P56696	KCNQ4_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 4	154					sensory perception of sound	basal plasma membrane|voltage-gated potassium channel complex				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(13)|skin(1)	26	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.38e-17)			GGTCTGGTCCGCCGGATGCTG	0.612													20	52					0	0	1	0	0	A	41283890	G	A	41283890	3	1	205	1	0	0	0	0	1	0	0	0	8129	1087	38	1	470	1	KCNQ4	1	41283890	Missense_Mutation	SNP	G	TCGA-FG-8187-01A-11D-2253-08		41283890	207966731	1	25216											
DMBX1	127343	broad.mit.edu	37	1	46977833	46977833	+	Silent	SNP	G	G	A			TCGA-FG-8187-01A-11D-2253-08	TCGA-FG-8187-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03ef1338-e963-4cc2-a596-27334a685da3	ae886eb1-4d03-4bb3-b9b4-ad379272ab7a	g.chr1:46977833G>A	ENST00000371956.4	+	4	831	c.816G>A	c.(814-816)caG>caA	p.Q272Q	DMBX1_ENST00000360032.3_Silent_p.Q267Q	NM_147192.2	NP_671725.1	Q8NFW5	DMBX1_HUMAN	diencephalon/mesencephalon homeobox 1	272					brain development|developmental growth|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Acute lymphoblastic leukemia(166;0.155)					AATTCCGCCAGCACATGGCGG	0.672													3	57					0	0	1	0	0	A	46977833	G	A	46977833	2	1	205	1	0	0	0	0	0	0	0	1	4606	962	34	2		2	DMBX1	1	46977833	Silent	SNP	G	TCGA-FG-8187-01A-11D-2253-08	5693943	46977833	202272788	2	25217											
FAM89A	375061	broad.mit.edu	37	1	231155648	231155648	+	Silent	SNP	G	G	A			TCGA-FG-8187-01A-11D-2253-08	TCGA-FG-8187-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03ef1338-e963-4cc2-a596-27334a685da3	ae886eb1-4d03-4bb3-b9b4-ad379272ab7a	g.chr1:231155648G>A	ENST00000366654.4	-	2	550	c.516C>T	c.(514-516)tcC>tcT	p.S172S	MIR1182_ENST00000408363.1_RNA|FAM89A_ENST00000494111.1_5'UTR	NM_198552.2	NP_940954.1	Q96GI7	FA89A_HUMAN	family with sequence similarity 89, member A	172										endometrium(1)|upper_aerodigestive_tract(1)	2	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)				TGGAGAGGGAGGAGACAGGCA	0.567													3	54					0	0	1	0	0	A	231155648	G	A	231155648	2	1	205	1	0	0	0	0	0	0	0	1	5678	987	35	2		2	FAM89A	1	231155648	Silent	SNP	G	TCGA-FG-8187-01A-11D-2253-08	184177815	231155648	18094973	3	25218											
HOXD3	3232	broad.mit.edu	37	2	177034190	177034190	+	Silent	SNP	A	A	G			TCGA-FG-8187-01A-11D-2253-08	TCGA-FG-8187-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03ef1338-e963-4cc2-a596-27334a685da3	ae886eb1-4d03-4bb3-b9b4-ad379272ab7a	g.chr2:177034190A>G	ENST00000468418.3	+	3	2438	c.348A>G	c.(346-348)ccA>ccG	p.P116P	HOXD3_ENST00000249440.3_Silent_p.P116P|HOXD3_ENST00000410016.1_Silent_p.P116P			P31249	HXD3_HUMAN	homeobox D3	116	Poly-Pro.				anterior/posterior pattern formation|cartilage development|cell-matrix adhesion|embryonic skeletal system morphogenesis|Notch signaling pathway|positive regulation of gene expression|positive regulation of neuron differentiation|thyroid gland development		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(11)|prostate(1)|upper_aerodigestive_tract(2)	23			OV - Ovarian serous cystadenocarcinoma(117;0.00569)|Epithelial(96;0.0864)|all cancers(119;0.226)	Colorectal(32;0.247)		AGCAGCAGccaccacaacccc	0.642													17	44					0	0	1	0	0	G	177034190	A	G	177034190	2	3	205	1	0	0	0	0	0	0	0	1	7364	146	6	3		3	HOXD3	2	177034190	Silent	SNP	A	TCGA-FG-8187-01A-11D-2253-08		177034190	66165183	4	25219											
ZDBF2	57683	broad.mit.edu	37	2	207175936	207175936	+	Silent	SNP	G	G	A			TCGA-FG-8187-01A-11D-2253-08	TCGA-FG-8187-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03ef1338-e963-4cc2-a596-27334a685da3	ae886eb1-4d03-4bb3-b9b4-ad379272ab7a	g.chr2:207175936G>A	ENST00000374423.3	+	5	7070	c.6684G>A	c.(6682-6684)tcG>tcA	p.S2228S		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	2228							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						AGTATATTTCGAAATACTCTG	0.363													10	15					0	0	1	0	0	A	207175936	G	A	207175936	2	1	205	1	0	0	0	0	0	0	0	1	17657	1045	37	1		1	ZDBF2	2	207175936	Silent	SNP	G	TCGA-FG-8187-01A-11D-2253-08	30141746	207175936	36023437	5	25220											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-FG-8187-01A-11D-2253-08	TCGA-FG-8187-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03ef1338-e963-4cc2-a596-27334a685da3	ae886eb1-4d03-4bb3-b9b4-ad379272ab7a	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	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								34	92					0	0	1	0	0	T	209113112	C	T	209113112	3	4	205	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-FG-8187-01A-11D-2253-08	1937176	209113112	34086261	6	25221											
ZBTB20	26137	broad.mit.edu	37	3	114058129	114058129	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-8187-01A-11D-2253-08	TCGA-FG-8187-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03ef1338-e963-4cc2-a596-27334a685da3	ae886eb1-4d03-4bb3-b9b4-ad379272ab7a	g.chr3:114058129T>C	ENST00000462705.1	-	12	2551	c.1730A>G	c.(1729-1731)aAc>aGc	p.N577S	ZBTB20_ENST00000357258.3_Missense_Mutation_p.N577S|ZBTB20_ENST00000474710.1_Missense_Mutation_p.N650S|ZBTB20_ENST00000481632.1_Missense_Mutation_p.N577S|ZBTB20_ENST00000471418.1_Missense_Mutation_p.N577S|ZBTB20_ENST00000393785.2_Missense_Mutation_p.N577S|ZBTB20_ENST00000464560.1_Missense_Mutation_p.N577S	NM_001164343.1	NP_001157815.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	650					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		CATGTGCACGTTGAGGGAGCT	0.527													4	234					0	0	1	0	0	C	114058129	T	C	114058129	3	2	205	1	0	0	0	0	1	0	0	0	17588	1725	60	3	280	3	ZBTB20	3	114058129	Missense_Mutation	SNP	T	TCGA-FG-8187-01A-11D-2253-08		114058129	83964301	7	25222											
PIK3CA	5290	broad.mit.edu	37	3	178952085	178952085	+	Missense_Mutation	SNP	A	A	G	rs121913279		TCGA-FG-8187-01A-11D-2253-08	TCGA-FG-8187-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03ef1338-e963-4cc2-a596-27334a685da3	ae886eb1-4d03-4bb3-b9b4-ad379272ab7a	g.chr3:178952085A>G	ENST00000263967.3	+	21	3297	c.3140A>G	c.(3139-3141)cAt>cGt	p.H1047R		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1047	PI3K/PI4K.		H -> L (in cancer).|H -> R (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane).|H -> Y (in cancer).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.H1047R(1387)|p.H1047L(194)|p.H1047P(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			AATGATGCACATCATGGTGGC	0.378	H1047L(EFM19_BREAST)|H1047R(BT20_BREAST)|H1047R(CAL29_URINARY_TRACT)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(HCC1954_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(MCAS_OVARY)|H1047R(MDAMB453_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(RKO_LARGE_INTESTINE)|H1047R(SKOV3_OVARY)|H1047R(T47D_BREAST)	57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			8	94					0	0	1	0	0	G	178952085	A	G	178952085	3	3	205	1	0	0	0	0	1	0	0	0	11961	217	8	3	3218	3	PIK3CA	3	178952085	Missense_Mutation	SNP	A	TCGA-FG-8187-01A-11D-2253-08	64893956	178952085	19070345	8	25223											
FAT1	2195	broad.mit.edu	37	4	187628151	187628151	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-8187-01A-11D-2253-08	TCGA-FG-8187-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03ef1338-e963-4cc2-a596-27334a685da3	ae886eb1-4d03-4bb3-b9b4-ad379272ab7a	g.chr4:187628151G>A	ENST00000441802.2	-	2	3040	c.2831C>T	c.(2830-2832)aCc>aTc	p.T944I		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	944	Cadherin 8.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						CATGATGACGGTTCCTTCTGG	0.453										HNSCC(5;0.00058)			5	284					0	0	1	0	0	A	187628151	G	A	187628151	3	1	205	1	0	0	0	0	1	0	0	0	5722	1261	44	2	11039	2	FAT1	4	187628151	Missense_Mutation	SNP	G	TCGA-FG-8187-01A-11D-2253-08		187628151	3526125	9	25224											
ZNF165	7718	broad.mit.edu	37	6	28053480	28053480	+	Silent	SNP	C	C	T	rs140146788		TCGA-FG-8187-01A-11D-2253-08	TCGA-FG-8187-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03ef1338-e963-4cc2-a596-27334a685da3	ae886eb1-4d03-4bb3-b9b4-ad379272ab7a	g.chr6:28053480C>T	ENST00000377325.1	+	2	778	c.222C>T	c.(220-222)tgC>tgT	p.C74C		NM_003447.3	NP_003438.1	P49910	ZN165_HUMAN	zinc finger protein 165	74	SCAN box.				viral reproduction	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GGGAGCTCTGCTGTCAGTGGC	0.562													3	58					0	0	1	0	0	T	28053480	C	T	28053480	2	4	205	1	0	0	0	0	0	0	0	1	17798	805	28	2		2	ZNF165	6	28053480	Silent	SNP	C	TCGA-FG-8187-01A-11D-2253-08		28053480	143061587	10	25225											
PIK3CG	5294	broad.mit.edu	37	7	106520010	106520010	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-8187-01A-11D-2253-08	TCGA-FG-8187-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03ef1338-e963-4cc2-a596-27334a685da3	ae886eb1-4d03-4bb3-b9b4-ad379272ab7a	g.chr7:106520010T>C	ENST00000359195.3	+	6	2748	c.2438T>C	c.(2437-2439)cTt>cCt	p.L813P	PIK3CG_ENST00000440650.2_Missense_Mutation_p.L813P|PIK3CG_ENST00000496166.1_Missense_Mutation_p.L813P	NM_001282427.1|NM_002649.2	NP_001269356.1|NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	813					G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						CCACTATGGCTTGAGTTTAAA	0.368													3	85					0	0	1	0	0	C	106520010	T	C	106520010	3	2	205	1	0	0	0	0	1	0	0	0	11964	1609	56	3	2456	3	PIK3CG	7	106520010	Missense_Mutation	SNP	T	TCGA-FG-8187-01A-11D-2253-08		106520010	52618653	11	25226											
XKR6	286046	broad.mit.edu	37	8	10755970	10755970	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-8187-01A-11D-2253-08	TCGA-FG-8187-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03ef1338-e963-4cc2-a596-27334a685da3	ae886eb1-4d03-4bb3-b9b4-ad379272ab7a	g.chr8:10755970G>A	ENST00000416569.2	-	3	1444	c.1418C>T	c.(1417-1419)gCg>gTg	p.A473V	XKR6_ENST00000304437.2_Missense_Mutation_p.A194V	NM_173683.3	NP_775954.2	Q5GH73	XKR6_HUMAN	XK, Kell blood group complex subunit-related family, member 6	473						integral to membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(8)|ovary(2)|prostate(1)|skin(3)	31				Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555)		TGCTGGCACCGCATAGGAGTC	0.473													3	39					0	0	1	0	0	A	10755970	G	A	10755970	3	1	205	1	0	0	0	0	1	0	0	0	17495	1087	38	1	511	1	XKR6	8	10755970	Missense_Mutation	SNP	G	TCGA-FG-8187-01A-11D-2253-08		10755970	135608052	12	25227											
CERCAM	51148	broad.mit.edu	37	9	131186792	131186792	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-8187-01A-11D-2253-08	TCGA-FG-8187-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03ef1338-e963-4cc2-a596-27334a685da3	ae886eb1-4d03-4bb3-b9b4-ad379272ab7a	g.chr9:131186792G>A	ENST00000372842.1	+	6	3575	c.431G>A	c.(430-432)cGg>cAg	p.R144Q	CERCAM_ENST00000372838.4_Missense_Mutation_p.R222Q			Q5T4B2	GT253_HUMAN	cerebral endothelial cell adhesion molecule	222					cellular component movement|leukocyte cell-cell adhesion|lipopolysaccharide biosynthetic process	endoplasmic reticulum lumen|plasma membrane		p.R144L(1)|p.R222L(1)		endometrium(2)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|pancreas(2)	20						GCATCCCTGCGGGCTGAAGGG	0.617													39	68					0	0	1	0	0	A	131186792	G	A	131186792	3	1	205	1	0	0	0	0	1	0	0	0	3288	1116	39	1	683	1	CERCAM	9	131186792	Missense_Mutation	SNP	G	TCGA-FG-8187-01A-11D-2253-08		131186792	10026639	13	25228											
LARP4B	23185	broad.mit.edu	37	10	866757	866757	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-8187-01A-11D-2253-08	TCGA-FG-8187-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03ef1338-e963-4cc2-a596-27334a685da3	ae886eb1-4d03-4bb3-b9b4-ad379272ab7a	g.chr10:866757T>C	ENST00000316157.3	-	13	1553	c.1513A>G	c.(1513-1515)Agg>Ggg	p.R505G		NM_015155.1	NP_055970.1	Q92615	LAR4B_HUMAN	La ribonucleoprotein domain family, member 4B	505							nucleotide binding|RNA binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	38						TTCTCCTCCCTTTTCTTCCGG	0.348													3	76					0	0	1	0	0	C	866757	T	C	866757	3	2	205	1	0	0	0	0	1	0	0	0	8670	1608	56	3	723	3	LARP4B	10	866757	Missense_Mutation	SNP	T	TCGA-FG-8187-01A-11D-2253-08		866757	134667990	14	25229											
CUBN	8029	broad.mit.edu	37	10	16992025	16992025	+	Silent	SNP	G	G	A			TCGA-FG-8187-01A-11D-2253-08	TCGA-FG-8187-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03ef1338-e963-4cc2-a596-27334a685da3	ae886eb1-4d03-4bb3-b9b4-ad379272ab7a	g.chr10:16992025G>A	ENST00000377833.4	-	34	5120	c.5055C>T	c.(5053-5055)ggC>ggT	p.G1685G		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	1685	CUB 11.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	p.G1685G(1)		breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CTTCGTGGCCGCCATCCAAAA	0.448													11	31					0	0	1	0	0	A	16992025	G	A	16992025	2	1	205	1	0	0	0	0	0	0	0	1	4074	1074	38	1		1	CUBN	10	16992025	Silent	SNP	G	TCGA-FG-8187-01A-11D-2253-08	16125268	16992025	118542722	15	25230											
OR8K1	390157	broad.mit.edu	37	11	56114203	56114203	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-8187-01A-11D-2253-08	TCGA-FG-8187-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03ef1338-e963-4cc2-a596-27334a685da3	ae886eb1-4d03-4bb3-b9b4-ad379272ab7a	g.chr11:56114203C>T	ENST00000279783.2	+	1	783	c.689C>T	c.(688-690)gCc>gTc	p.A230V		NM_001002907.1	NP_001002907.1	Q8NGG5	OR8K1_HUMAN	olfactory receptor, family 8, subfamily K, member 1	230					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(8)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33	Esophageal squamous(21;0.00448)					ATTCTAGTGGCCATTCTCAGA	0.383										HNSCC(65;0.19)			26	47					0	0	1	0	0	T	56114203	C	T	56114203	3	4	205	1	0	0	0	0	1	0	0	0	11290	739	26	2	691	2	OR8K1	11	56114203	Missense_Mutation	SNP	C	TCGA-FG-8187-01A-11D-2253-08		56114203	78892313	16	25231											
ABCG4	64137	broad.mit.edu	37	11	119025013	119025013	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-8187-01A-11D-2253-08	TCGA-FG-8187-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03ef1338-e963-4cc2-a596-27334a685da3	ae886eb1-4d03-4bb3-b9b4-ad379272ab7a	g.chr11:119025013C>T	ENST00000307417.3	+	4	764	c.400C>T	c.(400-402)Cgg>Tgg	p.R134W	ABCG4_ENST00000449422.2_Missense_Mutation_p.R134W|ABCG4_ENST00000531739.1_Missense_Mutation_p.R134W	NM_022169.4	NP_071452.2	Q9H172	ABCG4_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 4	134	ABC transporter.				cholesterol efflux	integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1)	44	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		TGGAAGGCCACGGGAGCTGAG	0.557													7	71					0	0	1	0	0	T	119025013	C	T	119025013	3	4	205	1	0	0	0	0	1	0	0	0	70	527	19	1	410	1	ABCG4	11	119025013	Missense_Mutation	SNP	C	TCGA-FG-8187-01A-11D-2253-08	62910810	119025013	15981503	17	25232											
GRIN2B	2904	broad.mit.edu	37	12	13906506	13906506	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-8187-01A-11D-2253-08	TCGA-FG-8187-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03ef1338-e963-4cc2-a596-27334a685da3	ae886eb1-4d03-4bb3-b9b4-ad379272ab7a	g.chr12:13906506T>C	ENST00000609686.1	-	3	964	c.755A>G	c.(754-756)tAt>tGt	p.Y252C		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B						response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	CGTGTAGCCATAGCCAGTCAG	0.512													3	152					0	0	1	0	0	C	13906506	T	C	13906506	3	2	205	1	0	0	0	0	1	0	0	0	6821	1406	49	3	3743	3	GRIN2B	12	13906506	Missense_Mutation	SNP	T	TCGA-FG-8187-01A-11D-2253-08		13906506	119945389	18	25233											
TMTC4	84899	broad.mit.edu	37	13	101257337	101257339	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-FG-8187-01A-11D-2253-08	TCGA-FG-8187-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03ef1338-e963-4cc2-a596-27334a685da3	ae886eb1-4d03-4bb3-b9b4-ad379272ab7a	g.chr13:101257337_101257339delAGG	ENST00000342624.5	-	19	2450_2452	c.2192_2194delCCT	c.(2191-2196)tccttg>ttg	p.S731del	TMTC4_ENST00000376234.3_In_Frame_Del_p.S712del|TMTC4_ENST00000328767.5_In_Frame_Del_p.S601del	NM_032813.2	NP_116202.2	Q5T4D3	TMTC4_HUMAN	transmembrane and tetratricopeptide repeat containing 4	712						integral to membrane	binding			breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					TCAAGCTGCAAGGAGATTTCATA	0.438													23	255	---	---	---	---						-	101257339	AGG	-	101257337	7	5	205	1	0	1	0	1	0	0	0	0	16323	69	3	0	92	0	TMTC4	13	101257337	In_Frame_Del	DEL	AGG	TCGA-FG-8187-01A-11D-2253-08		101257337	13912541	19	25234											
TEKT1	83659	broad.mit.edu	37	17	6703471	6703471	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-8187-01A-11D-2253-08	TCGA-FG-8187-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03ef1338-e963-4cc2-a596-27334a685da3	ae886eb1-4d03-4bb3-b9b4-ad379272ab7a	g.chr17:6703471C>T	ENST00000338694.2	-	8	1261	c.1132G>A	c.(1132-1134)Gtc>Atc	p.V378I	TEKT1_ENST00000535086.1_Missense_Mutation_p.V232I	NM_053285.1	NP_444515.1	Q969V4	TEKT1_HUMAN	tektin 1	378					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20		Myeloproliferative disorder(207;0.0255)				TTCTCTTTGACCTGGATCTCC	0.527													11	125					0	0	1	0	0	T	6703471	C	T	6703471	3	4	205	1	0	0	0	0	1	0	0	0	15811	507	18	2	128	2	TEKT1	17	6703471	Missense_Mutation	SNP	C	TCGA-FG-8187-01A-11D-2253-08		6703471	74491739	20	25235											
PBX4	80714	broad.mit.edu	37	19	19672911	19672911	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FG-8187-01A-11D-2253-08	TCGA-FG-8187-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03ef1338-e963-4cc2-a596-27334a685da3	ae886eb1-4d03-4bb3-b9b4-ad379272ab7a	g.chr19:19672911G>A	ENST00000251203.9	-	8	1334	c.1048C>T	c.(1048-1050)Cag>Tag	p.Q350*		NM_025245.2	NP_079521.1	Q9BYU1	PBX4_HUMAN	pre-B-cell leukemia homeobox 4								sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|lung(4)|ovary(1)|prostate(3)	9						GTGGCCCCCTGCCAGCTACCC	0.597													4	22					0	0	1	0	0	A	19672911	G	A	19672911	4	1	205	1	0	0	0	0	0	1	0	0	11542	1328	46	2	80	2	PBX4	19	19672911	Nonsense_Mutation	SNP	G	TCGA-FG-8187-01A-11D-2253-08		19672911	39456072	21	25236											
RIPK4	54101	broad.mit.edu	37	21	43166845	43166845	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-8187-01A-11D-2253-08	TCGA-FG-8187-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03ef1338-e963-4cc2-a596-27334a685da3	ae886eb1-4d03-4bb3-b9b4-ad379272ab7a	g.chr21:43166845C>T	ENST00000352483.2	-	5	824	c.760G>A	c.(760-762)Gcc>Acc	p.A254T	RIPK4_ENST00000544709.1_Missense_Mutation_p.A191T|RIPK4_ENST00000542057.1_Missense_Mutation_p.A191T|RIPK4_ENST00000332512.3_Missense_Mutation_p.A254T			Q96T11	Q96T11_HUMAN	receptor-interacting serine-threonine kinase 4	254						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						TGGCTGCAGGCGCGCGGCCGG	0.672													55	78					0	0	1	0	0	T	43166845	C	T	43166845	3	4	205	1	0	0	0	0	1	0	0	0	13435	768	27	1	1610	1	RIPK4	21	43166845	Missense_Mutation	SNP	C	TCGA-FG-8187-01A-11D-2253-08		43166845	4963050	22	25237											
VPS13D	55187	broad.mit.edu	37	1	12461735	12461735	+	Silent	SNP	T	T	C			TCGA-FG-8188-01A-11D-2253-08	TCGA-FG-8188-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fec960b-9288-453a-8c65-5b3e04b61550	c145c9e4-6e4d-4f21-a264-4bbb8a82930a	g.chr1:12461735T>C	ENST00000358136.3	+	62	11989	c.11859T>C	c.(11857-11859)ttT>ttC	p.F3953F	VPS13D_ENST00000496628.1_3'UTR|VPS13D_ENST00000356315.4_Silent_p.F3928F	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	3952					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		TAAGTTTCTTTGGCTACGATC	0.373													38	54					0	0	1	0	0	C	12461735	T	C	12461735	2	2	206	1	0	0	0	0	0	0	0	1	17252	1809	63	3		3	VPS13D	1	12461735	Silent	SNP	T	TCGA-FG-8188-01A-11D-2253-08		12461735	236788886	1	25238											
ARHGEF10L	55160	broad.mit.edu	37	1	17944985	17944987	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-FG-8188-01A-11D-2253-08	TCGA-FG-8188-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fec960b-9288-453a-8c65-5b3e04b61550	c145c9e4-6e4d-4f21-a264-4bbb8a82930a	g.chr1:17944985_17944987delCCT	ENST00000375408.3	+	1	175_177	c.137_139delCCT	c.(136-141)ccctcc>ccc	p.S52del	ARHGEF10L_ENST00000434513.1_Intron|ARHGEF10L_ENST00000375415.1_Intron|ARHGEF10L_ENST00000167825.4_In_Frame_Del_p.S52del|ARHGEF10L_ENST00000452522.1_Intron|ARHGEF10L_ENST00000375420.3_Intron|ARHGEF10L_ENST00000469726.1_Intron|ARHGEF10L_ENST00000361221.3_Intron			Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10-like	0					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		ATCCGCTGTCcctcctcctcctc	0.68													2	4	---	---	---	---						-	17944987	CCT	-	17944985	7	5	206	1	0	1	0	1	0	0	0	0	892	638	22	0		0	ARHGEF10L	1	17944985	In_Frame_Del	DEL	CCT	TCGA-FG-8188-01A-11D-2253-08	5483250	17944985	231305636	2	25239											
SF3A3	10946	broad.mit.edu	37	1	38435137	38435137	+	Splice_Site	SNP	C	C	A			TCGA-FG-8188-01A-11D-2253-08	TCGA-FG-8188-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fec960b-9288-453a-8c65-5b3e04b61550	c145c9e4-6e4d-4f21-a264-4bbb8a82930a	g.chr1:38435137C>A	ENST00000373019.4	-	14	2126		c.e14-1		SF3A3_ENST00000448721.2_Splice_Site	NM_006802.2	NP_006793.1	Q12874	SF3A3_HUMAN	splicing factor 3a, subunit 3, 60kDa						nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|nuclear speck	nucleic acid binding|protein binding|zinc ion binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(3)|prostate(2)	12	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				AGGGAATAGGCTAAAAAAGAA	0.418													15	34					3.27435e-08	3.33389e-08	1	1	0	A	38435137	C	A	38435137	5	1	206	1	0	0	0	0	0	0	1	0	14202	811	28	4	351	4	SF3A3	1	38435137	Splice_Site	SNP	C	TCGA-FG-8188-01A-11D-2253-08	20490152	38435137	210815484	3	25240											
COL9A2	1298	broad.mit.edu	37	1	40782860	40782860	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-8188-01A-11D-2253-08	TCGA-FG-8188-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fec960b-9288-453a-8c65-5b3e04b61550	c145c9e4-6e4d-4f21-a264-4bbb8a82930a	g.chr1:40782860C>T	ENST00000372748.3	-	1	106	c.10G>A	c.(10-12)Gct>Act	p.A4T		NM_001852.3	NP_001843.1	Q14055	CO9A2_HUMAN	collagen, type IX, alpha 2	4					axon guidance|skeletal system development	collagen type IX				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(4)|stomach(2)|urinary_tract(2)	22	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.08e-17)			GAGGCCGTAGCGGCGGCCATG	0.701													9	4					0	0	1	0	0	T	40782860	C	T	40782860	3	4	206	1	0	0	0	0	1	0	0	0	3731	768	27	1	2187	1	COL9A2	1	40782860	Missense_Mutation	SNP	C	TCGA-FG-8188-01A-11D-2253-08	2347723	40782860	208467761	4	25241											
PCYOX1	51449	broad.mit.edu	37	2	70504434	70504434	+	Silent	SNP	C	C	T			TCGA-FG-8188-01A-11D-2253-08	TCGA-FG-8188-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fec960b-9288-453a-8c65-5b3e04b61550	c145c9e4-6e4d-4f21-a264-4bbb8a82930a	g.chr2:70504434C>T	ENST00000433351.2	+	6	1456	c.1428C>T	c.(1426-1428)aaC>aaT	p.N476N	PCYOX1_ENST00000545138.1_Silent_p.N398N|PCYOX1_ENST00000505044.2_Silent_p.N399N|PCYOX1_ENST00000264441.5_3'UTR	NM_016297.3	NP_057381.3	Q9UHG3	PCYOX_HUMAN	prenylcysteine oxidase 1	476					prenylated protein catabolic process	lysosome|very-low-density lipoprotein particle	prenylcysteine oxidase activity			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)	15						CAGCCCACAACGCTGCACTCC	0.468													15	256					0	0	1	0	0	T	70504434	C	T	70504434	2	4	206	1	0	0	0	0	0	0	0	1	11655	535	19	1		1	PCYOX1	2	70504434	Silent	SNP	C	TCGA-FG-8188-01A-11D-2253-08		70504434	172694939	5	25242											
SLC9A2	6549	broad.mit.edu	37	2	103324661	103324661	+	Missense_Mutation	SNP	C	C	G			TCGA-FG-8188-01A-11D-2253-08	TCGA-FG-8188-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fec960b-9288-453a-8c65-5b3e04b61550	c145c9e4-6e4d-4f21-a264-4bbb8a82930a	g.chr2:103324661C>G	ENST00000233969.2	+	12	2294	c.2152C>G	c.(2152-2154)Cag>Gag	p.Q718E		NM_003048.3	NP_003039.2	Q9UBY0	SL9A2_HUMAN	solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2	718						integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						CTTGCCAGAACAGTTCTCCAA	0.537													26	126					0	0	1	0	0	G	103324661	C	G	103324661	3	3	206	1	0	0	0	0	1	0	0	0	14767	479	17	5	2198	5	SLC9A2	2	103324661	Missense_Mutation	SNP	C	TCGA-FG-8188-01A-11D-2253-08	32820227	103324661	139874712	6	25243											
TFCP2L1	29842	broad.mit.edu	37	2	121997207	121997207	+	Missense_Mutation	SNP	C	C	T	rs141932688	byFrequency	TCGA-FG-8188-01A-11D-2253-08	TCGA-FG-8188-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fec960b-9288-453a-8c65-5b3e04b61550	c145c9e4-6e4d-4f21-a264-4bbb8a82930a	g.chr2:121997207C>T	ENST00000263707.5	-	8	884	c.787G>A	c.(787-789)Gtg>Atg	p.V263M		NM_014553.2	NP_055368.1	Q9NZI6	TF2L1_HUMAN	transcription factor CP2-like 1	263					female pregnancy|steroid biosynthetic process	mitochondrion|nucleolus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1)|pancreas(2)|skin(1)|stomach(1)	22	Renal(3;0.01)					TGGTAGGCCACGTCGGGCCAT	0.632													4	76					0	0	1	0	0	T	121997207	C	T	121997207	3	4	206	1	0	0	0	0	1	0	0	0	15856	536	19	1	684	1	TFCP2L1	2	121997207	Missense_Mutation	SNP	C	TCGA-FG-8188-01A-11D-2253-08	18672546	121997207	121202166	7	25244											
TTN	7273	broad.mit.edu	37	2	179655479	179655479	+	Missense_Mutation	SNP	C	C	G			TCGA-FG-8188-01A-11D-2253-08	TCGA-FG-8188-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fec960b-9288-453a-8c65-5b3e04b61550	c145c9e4-6e4d-4f21-a264-4bbb8a82930a	g.chr2:179655479C>G	ENST00000589042.1	-	11	1980	c.1756G>C	c.(1756-1758)Gaa>Caa	p.E586Q	TTN_ENST00000342992.6_Missense_Mutation_p.E586Q|TTN_ENST00000591111.1_Missense_Mutation_p.E586Q|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000360870.5_Missense_Mutation_p.E586Q	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	586							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTGGTAGTTTCTTCTTGAGCT	0.423													6	149					0	0	1	0	0	G	179655479	C	G	179655479	3	3	206	1	0	0	0	0	1	0	0	0	16797	922	32	4	109640	4	TTN	2	179655479	Missense_Mutation	SNP	C	TCGA-FG-8188-01A-11D-2253-08	57658272	179655479	63543894	8	25245											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-FG-8188-01A-11D-2253-08	TCGA-FG-8188-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fec960b-9288-453a-8c65-5b3e04b61550	c145c9e4-6e4d-4f21-a264-4bbb8a82930a	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								35	66					0	0	1	0	0	T	209113112	C	T	209113112	3	4	206	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-FG-8188-01A-11D-2253-08	29457633	209113112	34086261	9	25246											
GRM7	2917	broad.mit.edu	37	3	7620372	7620372	+	Silent	SNP	T	T	C			TCGA-FG-8188-01A-11D-2253-08	TCGA-FG-8188-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fec960b-9288-453a-8c65-5b3e04b61550	c145c9e4-6e4d-4f21-a264-4bbb8a82930a	g.chr3:7620372T>C	ENST00000486284.1	+	8	2053	c.1779T>C	c.(1777-1779)atT>atC	p.I593I	GRM7_ENST00000389336.4_Silent_p.I593I|GRM7_ENST00000458641.2_3'UTR|GRM7_ENST00000357716.4_Silent_p.I593I|GRM7_ENST00000403881.1_Silent_p.I593I|GRM7_ENST00000402647.2_Silent_p.I593I	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	593					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	GGGCTGTGATTCCTGTCTTCC	0.552													10	117					0	0	1	0	0	C	7620372	T	C	7620372	2	2	206	1	0	0	0	0	0	0	0	1	6843	1771	62	3		3	GRM7	3	7620372	Silent	SNP	T	TCGA-FG-8188-01A-11D-2253-08		7620372	190402058	10	25247											
UBXN7	26043	broad.mit.edu	37	3	196096372	196096372	+	Missense_Mutation	SNP	T	T	A			TCGA-FG-8188-01A-11D-2253-08	TCGA-FG-8188-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fec960b-9288-453a-8c65-5b3e04b61550	c145c9e4-6e4d-4f21-a264-4bbb8a82930a	g.chr3:196096372T>A	ENST00000296328.4	-	7	700	c.626A>T	c.(625-627)gAc>gTc	p.D209V	UBXN7_ENST00000428095.1_Missense_Mutation_p.D47V|UBXN7_ENST00000535858.1_Missense_Mutation_p.D61V	NM_015562.1	NP_056377.1	O94888	UBXN7_HUMAN	UBX domain protein 7	209							protein binding			NS(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	18						TTCCTCACTGTCATGATAAAC	0.363													14	48					0	0	1	0	0	A	196096372	T	A	196096372	3	1	206	1	0	0	0	0	1	0	0	0	16978	1667	58	5	863	5	UBXN7	3	196096372	Missense_Mutation	SNP	T	TCGA-FG-8188-01A-11D-2253-08	188476000	196096372	1926058	11	25248											
FABP2	2169	broad.mit.edu	37	4	120243252	120243252	+	Silent	SNP	C	C	T			TCGA-FG-8188-01A-11D-2253-08	TCGA-FG-8188-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fec960b-9288-453a-8c65-5b3e04b61550	c145c9e4-6e4d-4f21-a264-4bbb8a82930a	g.chr4:120243252C>T	ENST00000274024.3	-	1	293	c.6G>A	c.(4-6)gcG>gcA	p.A2A		NM_000134.3	NP_000125.2	P12104	FABPI_HUMAN	fatty acid binding protein 2, intestinal	2							fatty acid binding			breast(1)|large_intestine(4)|lung(1)|ovary(1)|pancreas(1)	8						TGCTGTCAAACGCCATGATTT	0.398													7	253					0	0	1	0	0	T	120243252	C	T	120243252	2	4	206	1	0	0	0	0	0	0	0	1	5388	523	19	1		1	FABP2	4	120243252	Silent	SNP	C	TCGA-FG-8188-01A-11D-2253-08		120243252	70911024	12	25249											
PIK3R1	5295	broad.mit.edu	37	5	67569270	67569270	+	Silent	SNP	G	G	A			TCGA-FG-8188-01A-11D-2253-08	TCGA-FG-8188-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fec960b-9288-453a-8c65-5b3e04b61550	c145c9e4-6e4d-4f21-a264-4bbb8a82930a	g.chr5:67569270G>A	ENST00000521381.1	+	3	1003	c.387G>A	c.(385-387)ccG>ccA	p.P129P	PIK3R1_ENST00000274335.5_Silent_p.P129P|PIK3R1_ENST00000396611.1_Silent_p.P129P|PIK3R1_ENST00000521657.1_Silent_p.P129P	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	129	Rho-GAP.				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.?(2)|p.0?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	ACATTGCCCCGCCTCTTCTTA	0.443			"Mis, F, O"		"gliobastoma, ovarian, colorectal"					TCGA GBM(4;<1E-08)			24	223					0	0	1	0	0	A	67569270	G	A	67569270	2	1	206	1	0	0	0	0	0	0	0	1	11966	1074	38	1		1	PIK3R1	5	67569270	Silent	SNP	G	TCGA-FG-8188-01A-11D-2253-08		67569270	113345990	13	25250											
PIK3R1	5295	broad.mit.edu	37	5	67591086	67591086	+	Missense_Mutation	SNP	A	A	G			TCGA-FG-8188-01A-11D-2253-08	TCGA-FG-8188-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fec960b-9288-453a-8c65-5b3e04b61550	c145c9e4-6e4d-4f21-a264-4bbb8a82930a	g.chr5:67591086A>G	ENST00000521381.1	+	13	2295	c.1679A>G	c.(1678-1680)gAc>gGc	p.D560G	PIK3R1_ENST00000336483.5_Missense_Mutation_p.D290G|PIK3R1_ENST00000523872.1_Missense_Mutation_p.D197G|PIK3R1_ENST00000274335.5_Missense_Mutation_p.D560G|PIK3R1_ENST00000396611.1_Missense_Mutation_p.D560G|PIK3R1_ENST00000521657.1_Missense_Mutation_p.D560G|PIK3R1_ENST00000320694.8_Missense_Mutation_p.D260G	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	560					epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.D560_S565del(1)|p.R557_K561>Q(1)|p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	CGAGAAATTGACAAACGTATG	0.358			"Mis, F, O"		"gliobastoma, ovarian, colorectal"					TCGA GBM(4;<1E-08)			24	89					0	0	1	0	0	G	67591086	A	G	67591086	3	3	206	1	0	0	0	0	1	0	0	0	11966	275	10	3	1855	3	PIK3R1	5	67591086	Missense_Mutation	SNP	A	TCGA-FG-8188-01A-11D-2253-08	21816	67591086	113324174	14	25251											
CRHBP	1393	broad.mit.edu	37	5	76264637	76264637	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-8188-01A-11D-2253-08	TCGA-FG-8188-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fec960b-9288-453a-8c65-5b3e04b61550	c145c9e4-6e4d-4f21-a264-4bbb8a82930a	g.chr5:76264637G>A	ENST00000274368.4	+	7	1318	c.896G>A	c.(895-897)cGt>cAt	p.R299H	CRHBP_ENST00000514258.1_Intron	NM_001882.3	NP_001873.2	P24387	CRHBP_HUMAN	corticotropin releasing hormone binding protein	299					female pregnancy|learning or memory|signal transduction	soluble fraction				kidney(3)|large_intestine(4)|lung(6)|prostate(1)|skin(2)	16		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;2.17e-51)|Epithelial(54;8.79e-46)|all cancers(79;2.49e-41)		TTTGAGTATCGTCAGCTGGAG	0.458													18	58					0	0	1	0	0	A	76264637	G	A	76264637	3	1	206	1	0	0	0	0	1	0	0	0	3893	1145	40	1	922	1	CRHBP	5	76264637	Missense_Mutation	SNP	G	TCGA-FG-8188-01A-11D-2253-08	8673551	76264637	104650623	15	25252											
DEFB113	245927	broad.mit.edu	37	6	49936551	49936551	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-8188-01A-11D-2253-08	TCGA-FG-8188-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fec960b-9288-453a-8c65-5b3e04b61550	c145c9e4-6e4d-4f21-a264-4bbb8a82930a	g.chr6:49936551C>T	ENST00000398718.1	-	2	87	c.88G>A	c.(88-90)Gag>Aag	p.E30K		NM_001037729.1	NP_001032818.1	Q30KQ7	DB113_HUMAN	defensin, beta 113	30					defense response to bacterium	extracellular region				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)	7	Lung NSC(77;0.042)					CTTTTTCTCTCTGCAACTTCT	0.383													3	26					0	0	1	0	0	T	49936551	C	T	49936551	3	4	206	1	0	0	0	0	1	0	0	0	4429	922	32	2	156	2	DEFB113	6	49936551	Missense_Mutation	SNP	C	TCGA-FG-8188-01A-11D-2253-08		49936551	121178516	16	25253											
DEFB112	245915	broad.mit.edu	37	6	50011409	50011409	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-8188-01A-11D-2253-08	TCGA-FG-8188-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fec960b-9288-453a-8c65-5b3e04b61550	c145c9e4-6e4d-4f21-a264-4bbb8a82930a	g.chr6:50011409T>C	ENST00000322246.4	-	2	220	c.221A>G	c.(220-222)tAc>tGc	p.Y74C		NM_001037498.1	NP_001032587.1	Q30KQ8	DB112_HUMAN	defensin, beta 112	74					defense response to bacterium	extracellular region				central_nervous_system(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	19	Lung NSC(77;0.042)					TCTTGCACAGTATGAAATCCT	0.433													34	67					0	0	1	0	0	C	50011409	T	C	50011409	3	2	206	1	0	0	0	0	1	0	0	0	4428	1638	57	3	123	3	DEFB112	6	50011409	Missense_Mutation	SNP	T	TCGA-FG-8188-01A-11D-2253-08	74858	50011409	121103658	17	25254											
TFAP2D	83741	broad.mit.edu	37	6	50696680	50696680	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-8188-01A-11D-2253-08	TCGA-FG-8188-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fec960b-9288-453a-8c65-5b3e04b61550	c145c9e4-6e4d-4f21-a264-4bbb8a82930a	g.chr6:50696680G>A	ENST00000008391.3	+	4	938	c.710G>A	c.(709-711)cGc>cAc	p.R237H	TFAP2D_ENST00000492804.1_3'UTR	NM_172238.3	NP_758438.2	Q7Z6R9	AP2D_HUMAN	transcription factor AP-2 delta (activating enhancer binding protein 2 delta)	237							DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1)	60	Lung NSC(77;0.0334)					GTAAAGAGGCGCCTCTCCCCA	0.473													6	103					0	0	1	0	0	A	50696680	G	A	50696680	3	1	206	1	0	0	0	0	1	0	0	0	15850	1087	38	1	724	1	TFAP2D	6	50696680	Missense_Mutation	SNP	G	TCGA-FG-8188-01A-11D-2253-08	685271	50696680	120418387	18	25255											
DOPEY1	23033	broad.mit.edu	37	6	83855297	83855297	+	Missense_Mutation	SNP	A	A	G			TCGA-FG-8188-01A-11D-2253-08	TCGA-FG-8188-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fec960b-9288-453a-8c65-5b3e04b61550	c145c9e4-6e4d-4f21-a264-4bbb8a82930a	g.chr6:83855297A>G	ENST00000349129.2	+	25	5856	c.5596A>G	c.(5596-5598)Atc>Gtc	p.I1866V	DOPEY1_ENST00000369739.3_Missense_Mutation_p.I1857V|DOPEY1_ENST00000237163.5_Missense_Mutation_p.I1847V|DOPEY1_ENST00000484282.1_3'UTR	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	1866					protein transport					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		GGTTCGTTCAATCAGTGTCAT	0.373													15	26					0	0	1	0	0	G	83855297	A	G	83855297	3	3	206	1	0	0	0	0	1	0	0	0	4734	101	4	3	5686	3	DOPEY1	6	83855297	Missense_Mutation	SNP	A	TCGA-FG-8188-01A-11D-2253-08	33158617	83855297	87259770	19	25256											
RARS2	57038	broad.mit.edu	37	6	88239302	88239302	+	Missense_Mutation	SNP	A	A	C			TCGA-FG-8188-01A-11D-2253-08	TCGA-FG-8188-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fec960b-9288-453a-8c65-5b3e04b61550	c145c9e4-6e4d-4f21-a264-4bbb8a82930a	g.chr6:88239302A>C	ENST00000369536.5	-	10	881	c.836T>G	c.(835-837)gTc>gGc	p.V279G		NM_020320.3	NP_064716.2	Q5T160	SYRM_HUMAN	arginyl-tRNA synthetase 2, mitochondrial	279					arginyl-tRNA aminoacylation	mitochondrial matrix	arginine-tRNA ligase activity|ATP binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	22		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0456)		CAACTTTAAGACCTCTTGAGA	0.308													17	48					0	0	1	0	0	C	88239302	A	C	88239302	3	2	206	1	0	0	0	0	1	0	0	0	13111	275	10	5	944	5	RARS2	6	88239302	Missense_Mutation	SNP	A	TCGA-FG-8188-01A-11D-2253-08	4384005	88239302	82875765	20	25257											
BACH2	60468	broad.mit.edu	37	6	90661005	90661005	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FG-8188-01A-11D-2253-08	TCGA-FG-8188-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fec960b-9288-453a-8c65-5b3e04b61550	c145c9e4-6e4d-4f21-a264-4bbb8a82930a	g.chr6:90661005G>A	ENST00000257749.4	-	7	1527	c.820C>T	c.(820-822)Cag>Tag	p.Q274*	RP3-512E2.2_ENST00000445838.1_RNA|RP3-512E2.2_ENST00000413986.1_RNA|BACH2_ENST00000343122.3_Nonsense_Mutation_p.Q274*|BACH2_ENST00000537989.1_Nonsense_Mutation_p.Q274*	NM_021813.2	NP_068585.1	Q9BYV9	BACH2_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 2	274						nucleus	protein dimerization activity|sequence-specific DNA binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	45		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)		CTTTTAATCTGCCCCCTGGCA	0.532													46	58					0	0	1	0	0	A	90661005	G	A	90661005	4	1	206	1	0	0	0	0	0	1	0	0	1282	1328	46	2	1717	2	BACH2	6	90661005	Nonsense_Mutation	SNP	G	TCGA-FG-8188-01A-11D-2253-08	2421703	90661005	80454062	21	25258											
UST	10090	broad.mit.edu	37	6	149340328	149340328	+	Silent	SNP	A	A	G			TCGA-FG-8188-01A-11D-2253-08	TCGA-FG-8188-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fec960b-9288-453a-8c65-5b3e04b61550	c145c9e4-6e4d-4f21-a264-4bbb8a82930a	g.chr6:149340328A>G	ENST00000367463.4	+	6	838	c.735A>G	c.(733-735)ttA>ttG	p.L245L		NM_005715.2	NP_005706.1	Q9Y2C2	UST_HUMAN	uronyl-2-sulfotransferase	245					protein sulfation	Golgi membrane|integral to membrane	sulfotransferase activity			breast(1)|endometrium(3)|large_intestine(4)|lung(2)|ovary(2)	12		Ovarian(120;0.0907)		OV - Ovarian serous cystadenocarcinoma(155;1.78e-10)|GBM - Glioblastoma multiforme(68;0.138)		ACCCCAGGTTATTTTACATCA	0.463													5	173					0	0	1	0	0	G	149340328	A	G	149340328	2	3	206	1	0	0	0	0	0	0	0	1	17153	446	16	3		3	UST	6	149340328	Silent	SNP	A	TCGA-FG-8188-01A-11D-2253-08	58679323	149340328	21774739	22	25259											
RAMP3	10268	broad.mit.edu	37	7	45222924	45222924	+	Silent	SNP	C	C	T			TCGA-FG-8188-01A-11D-2253-08	TCGA-FG-8188-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fec960b-9288-453a-8c65-5b3e04b61550	c145c9e4-6e4d-4f21-a264-4bbb8a82930a	g.chr7:45222924C>T	ENST00000242249.4	+	3	398	c.360C>T	c.(358-360)atC>atT	p.I120I	RAMP3_ENST00000496212.1_Silent_p.I120I|RAMP3_ENST00000481345.1_Silent_p.I120I	NM_005856.2	NP_005847.1	O60896	RAMP3_HUMAN	receptor (G protein-coupled) activity modifying protein 3	120					intracellular protein transport|receptor-mediated endocytosis|regulation of G-protein coupled receptor protein signaling pathway	integral to plasma membrane|lysosome	protein transporter activity			breast(1)|endometrium(1)|large_intestine(4)|lung(4)|stomach(1)	11					Pramlintide(DB01278)	AGGTTCTCATCCCGCTGATCG	0.632													13	230					0	0	1	0	0	T	45222924	C	T	45222924	2	4	206	1	0	0	0	0	0	0	0	1	13075	845	30	2		2	RAMP3	7	45222924	Silent	SNP	C	TCGA-FG-8188-01A-11D-2253-08		45222924	113915739	23	25260											
MKRN1	23608	broad.mit.edu	37	7	140154921	140154922	+	Frame_Shift_Del	DEL	TC	TC	-	rs1062780		TCGA-FG-8188-01A-11D-2253-08	TCGA-FG-8188-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fec960b-9288-453a-8c65-5b3e04b61550	c145c9e4-6e4d-4f21-a264-4bbb8a82930a	g.chr7:140154921_140154922delTC	ENST00000255977.2	-	7	1433_1434	c.1209_1210delGA	c.(1207-1212)cagaaafs	p.K404fs	MKRN1_ENST00000474576.1_Frame_Shift_Del_p.K340fs|MKRN1_ENST00000437223.2_Frame_Shift_Del_p.K138fs	NM_013446.3	NP_038474.2	Q9UHC7	MKRN1_HUMAN	makorin ring finger protein 1	404							ligase activity|nucleic acid binding|protein binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	16	Melanoma(164;0.00956)					GTTCCCACTTTCTGTCTCTGTG	0.485													80	187	---	---	---	---						-	140154922	TC	-	140154921	7	5	206	1	0	1	0	1	0	0	0	0	9654	1792	62	0	246	0	MKRN1	7	140154921	Frame_Shift_Del	DEL	TC	TCGA-FG-8188-01A-11D-2253-08	94931997	140154921	18983742	24	25261											
SLC7A2	6542	broad.mit.edu	37	8	17396342	17396342	+	Missense_Mutation	SNP	A	A	G			TCGA-FG-8188-01A-11D-2253-08	TCGA-FG-8188-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fec960b-9288-453a-8c65-5b3e04b61550	c145c9e4-6e4d-4f21-a264-4bbb8a82930a	g.chr8:17396342A>G	ENST00000470360.1	+	3	126	c.9A>G	c.(7-9)atA>atG	p.I3M	SLC7A2_ENST00000522656.1_Intron|SLC7A2_ENST00000398090.3_Missense_Mutation_p.I3M|SLC7A2_ENST00000494857.1_Intron|SLC7A2_ENST00000004531.10_Missense_Mutation_p.I3M			P52569	CTR2_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 2	0					cellular amino acid metabolic process|ion transport	cytoplasm|integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	25				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	L-Lysine(DB00123)|L-Ornithine(DB00129)	GAATGAAGATAGAAACAAGTG	0.388													17	62					0	0	1	0	0	G	17396342	A	G	17396342	3	3	206	1	0	0	0	0	1	0	0	0	14752	410	15	3	11	3	SLC7A2	8	17396342	Missense_Mutation	SNP	A	TCGA-FG-8188-01A-11D-2253-08		17396342	128967680	25	25262											
PRKDC	5591	broad.mit.edu	37	8	48706915	48706915	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-8188-01A-11D-2253-08	TCGA-FG-8188-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fec960b-9288-453a-8c65-5b3e04b61550	c145c9e4-6e4d-4f21-a264-4bbb8a82930a	g.chr8:48706915T>C	ENST00000314191.2	-	75	10659	c.10603A>G	c.(10603-10605)Agc>Ggc	p.S3535G	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Missense_Mutation_p.S3535G	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	3536	FAT.				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				CTTTCGCTGCTTATGATGAAG	0.423								Non-homologous end-joining					9	14					0	0	1	0	0	C	48706915	T	C	48706915	3	2	206	1	0	0	0	0	1	0	0	0	12573	1609	56	3	1832	3	PRKDC	8	48706915	Missense_Mutation	SNP	T	TCGA-FG-8188-01A-11D-2253-08	31310573	48706915	97657107	26	25263											
RB1CC1	9821	broad.mit.edu	37	8	53570054	53570054	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-8188-01A-11D-2253-08	TCGA-FG-8188-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fec960b-9288-453a-8c65-5b3e04b61550	c145c9e4-6e4d-4f21-a264-4bbb8a82930a	g.chr8:53570054C>T	ENST00000025008.5	-	15	2858	c.2335G>A	c.(2335-2337)Gat>Aat	p.D779N	RB1CC1_ENST00000539297.1_Missense_Mutation_p.D779N|RB1CC1_ENST00000435644.2_Missense_Mutation_p.D779N|RB1CC1_ENST00000521611.1_Intron	NM_014781.4	NP_055596.3	Q8TDY2	RBCC1_HUMAN	RB1-inducible coiled-coil 1	779					autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	protein binding			NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				ACATTTGTATCCTGCATTCGT	0.403													33	85					0	0	1	0	0	T	53570054	C	T	53570054	3	4	206	1	0	0	0	0	1	0	0	0	13151	855	30	2	2489	2	RB1CC1	8	53570054	Missense_Mutation	SNP	C	TCGA-FG-8188-01A-11D-2253-08	4863139	53570054	92793968	27	25264											
CDH23	64072	broad.mit.edu	37	10	73548698	73548698	+	Splice_Site	SNP	A	A	G			TCGA-FG-8188-01A-11D-2253-08	TCGA-FG-8188-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fec960b-9288-453a-8c65-5b3e04b61550	c145c9e4-6e4d-4f21-a264-4bbb8a82930a	g.chr10:73548698A>G	ENST00000224721.6	+	44	5842	c.5837A>G	c.(5836-5838)gAt>gGt	p.D1946G		NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	1941	Cadherin 18.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						CCCTTGCAGGATTATGACTTG	0.547													14	25					0	0	1	0	0	G	73548698	A	G	73548698	5	3	206	1	0	0	0	0	0	0	1	0	3130	347	12	3	6341	3	CDH23	10	73548698	Splice_Site	SNP	A	TCGA-FG-8188-01A-11D-2253-08		73548698	61986049	28	25265											
KRTAP5-3	387266	broad.mit.edu	37	11	1629152	1629152	+	Missense_Mutation	SNP	C	C	G			TCGA-FG-8188-01A-11D-2253-08	TCGA-FG-8188-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fec960b-9288-453a-8c65-5b3e04b61550	c145c9e4-6e4d-4f21-a264-4bbb8a82930a	g.chr11:1629152C>G	ENST00000399685.1	-	1	541	c.464G>C	c.(463-465)tGc>tCc	p.C155S		NM_001012708.2	NP_001012726.1	Q6L8H2	KRA53_HUMAN	keratin associated protein 5-3	155	11 X 4 AA repeats of C-C-X-P.					keratin filament				endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	8		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000618)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)		GGACTGGGAGCAGCTGGGCTT	0.627													6	224					0	0	1	0	0	G	1629152	C	G	1629152	3	3	206	1	0	0	0	0	1	0	0	0	8602	710	25	5	256	5	KRTAP5-3	11	1629152	Missense_Mutation	SNP	C	TCGA-FG-8188-01A-11D-2253-08		1629152	133377364	29	25266											
APLNR	187	broad.mit.edu	37	11	57003348	57003348	+	Silent	SNP	A	A	G			TCGA-FG-8188-01A-11D-2253-08	TCGA-FG-8188-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fec960b-9288-453a-8c65-5b3e04b61550	c145c9e4-6e4d-4f21-a264-4bbb8a82930a	g.chr11:57003348A>G	ENST00000606794.1	-	1	1327	c.1131T>C	c.(1129-1131)ctT>ctC	p.L377L		NM_005161.4	NP_005152.1	P35414	APJ_HUMAN	apelin receptor	377						integral to plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						AGTCAACCACAAGGGTCTCCT	0.612													22	34					0	0	1	0	0	G	57003348	A	G	57003348	2	3	206	1	0	0	0	0	0	0	0	1	774	117	5	3		3	APLNR	11	57003348	Silent	SNP	A	TCGA-FG-8188-01A-11D-2253-08	55374196	57003348	78003168	30	25267											
NADSYN1	55191	broad.mit.edu	37	11	71166162	71166162	+	Missense_Mutation	SNP	A	A	G			TCGA-FG-8188-01A-11D-2253-08	TCGA-FG-8188-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fec960b-9288-453a-8c65-5b3e04b61550	c145c9e4-6e4d-4f21-a264-4bbb8a82930a	g.chr11:71166162A>G	ENST00000319023.2	+	2	280	c.92A>G	c.(91-93)gAa>gGa	p.E31G		NM_018161.4	NP_060631.2	Q6IA69	NADE_HUMAN	NAD synthetase 1	31	CN hydrolase.				NAD biosynthetic process|water-soluble vitamin metabolic process	cytosol	ATP binding|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds|NAD+ synthase (glutamine-hydrolyzing) activity|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	25					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	ACAGGTATTGAAATTGCCAAA	0.438													18	40					0	0	1	0	0	G	71166162	A	G	71166162	3	3	206	1	0	0	0	0	1	0	0	0	10186	246	9	3	98	3	NADSYN1	11	71166162	Missense_Mutation	SNP	A	TCGA-FG-8188-01A-11D-2253-08	14162814	71166162	63840354	31	25268											
KRT81	3887	broad.mit.edu	37	12	52680930	52680930	+	Silent	SNP	G	G	A			TCGA-FG-8188-01A-11D-2253-08	TCGA-FG-8188-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fec960b-9288-453a-8c65-5b3e04b61550	c145c9e4-6e4d-4f21-a264-4bbb8a82930a	g.chr12:52680930G>A	ENST00000327741.5	-	7	1271	c.1203C>T	c.(1201-1203)atC>atT	p.I401I	KRT86_ENST00000423955.2_Intron|KRT86_ENST00000544024.1_Intron	NM_002281.3	NP_002272.2	Q14533	KRT81_HUMAN	keratin 81	401	Coil 2.|Rod.					keratin filament	protein binding|structural molecule activity			breast(2)|endometrium(3)|large_intestine(3)|lung(6)|prostate(1)|stomach(1)	16				BRCA - Breast invasive adenocarcinoma(357;0.189)		TGGCGATCTCGATGTCCAGGC	0.647													5	106					0	0	1	0	0	A	52680930	G	A	52680930	2	1	206	1	0	0	0	0	0	0	0	1	8538	1048	37	1		1	KRT81	12	52680930	Silent	SNP	G	TCGA-FG-8188-01A-11D-2253-08		52680930	81170965	32	25269											
RYR3	6263	broad.mit.edu	37	15	33893721	33893721	+	Silent	SNP	C	C	G			TCGA-FG-8188-01A-11D-2253-08	TCGA-FG-8188-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fec960b-9288-453a-8c65-5b3e04b61550	c145c9e4-6e4d-4f21-a264-4bbb8a82930a	g.chr15:33893721C>G	ENST00000389232.4	+	17	1960	c.1890C>G	c.(1888-1890)ctC>ctG	p.L630L	RYR3_ENST00000415757.3_Silent_p.L630L	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	630	B30.2/SPRY 1.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GAAACCTACTCCTGCAGACAC	0.512													23	24					0	0	1	0	0	G	33893721	C	G	33893721	2	3	206	1	0	0	0	0	0	0	0	1	13822	842	30	5		5	RYR3	15	33893721	Silent	SNP	C	TCGA-FG-8188-01A-11D-2253-08		33893721	68637671	33	25270											
KIAA0556	23247	broad.mit.edu	37	16	27786309	27786309	+	Silent	SNP	G	G	A			TCGA-FG-8188-01A-11D-2253-08	TCGA-FG-8188-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fec960b-9288-453a-8c65-5b3e04b61550	c145c9e4-6e4d-4f21-a264-4bbb8a82930a	g.chr16:27786309G>A	ENST00000261588.4	+	24	4372	c.4353G>A	c.(4351-4353)gtG>gtA	p.V1451V		NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	1451										breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						TGGAGGGTGTGGGCGGGGACG	0.627													14	75					0	0	1	0	0	A	27786309	G	A	27786309	2	1	206	1	0	0	0	0	0	0	0	1	8225	1335	47	2		2	KIAA0556	16	27786309	Silent	SNP	G	TCGA-FG-8188-01A-11D-2253-08		27786309	62568444	34	25271											
RAP1GAP2	23108	broad.mit.edu	37	17	2909299	2909299	+	Silent	SNP	C	C	T			TCGA-FG-8188-01A-11D-2253-08	TCGA-FG-8188-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fec960b-9288-453a-8c65-5b3e04b61550	c145c9e4-6e4d-4f21-a264-4bbb8a82930a	g.chr17:2909299C>T	ENST00000254695.8	+	16	1413	c.1323C>T	c.(1321-1323)aaC>aaT	p.N441N	RAP1GAP2_ENST00000366401.4_Silent_p.N426N|RAP1GAP2_ENST00000542807.1_Silent_p.N441N|RAP1GAP2_ENST00000540393.2_Silent_p.N422N	NM_015085.4	NP_055900.4	Q684P5	RPGP2_HUMAN	RAP1 GTPase activating protein 2	441	Rap-GAP.				regulation of small GTPase mediated signal transduction	centrosome|cytosol|perinuclear region of cytoplasm	GTPase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	11						ATGCCGAGAACGCCTGCTGCA	0.572													5	148					0	0	1	0	0	T	2909299	C	T	2909299	2	4	206	1	0	0	0	0	0	0	0	1	13090	535	19	1		1	RAP1GAP2	17	2909299	Silent	SNP	C	TCGA-FG-8188-01A-11D-2253-08		2909299	78285911	35	25272											
TP53	7157	broad.mit.edu	37	17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	rs121913343		TCGA-FG-8188-01A-11D-2253-08	TCGA-FG-8188-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fec960b-9288-453a-8c65-5b3e04b61550	c145c9e4-6e4d-4f21-a264-4bbb8a82930a	g.chr17:7577121G>A	ENST00000420246.2	-	8	949	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000269305.4_Missense_Mutation_p.R273C|TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000455263.2_Missense_Mutation_p.R273C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	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).		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.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			11	13					0	0	1	0	0	A	7577121	G	A	7577121	3	1	206	1	0	0	0	0	1	0	0	0	16442	1087	38	1	469	1	TP53	17	7577121	Missense_Mutation	SNP	G	TCGA-FG-8188-01A-11D-2253-08	4667822	7577121	73618089	36	25273											
TP53	7157	broad.mit.edu	37	17	7578457	7578457	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-8188-01A-11D-2253-08	TCGA-FG-8188-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fec960b-9288-453a-8c65-5b3e04b61550	c145c9e4-6e4d-4f21-a264-4bbb8a82930a	g.chr17:7578457C>T	ENST00000420246.2	-	5	605	c.473G>A	c.(472-474)cGc>cAc	p.R158H	TP53_ENST00000413465.2_Missense_Mutation_p.R158H|TP53_ENST00000445888.2_Missense_Mutation_p.R158H|TP53_ENST00000269305.4_Missense_Mutation_p.R158H|TP53_ENST00000359597.4_Missense_Mutation_p.R158H|TP53_ENST00000455263.2_Missense_Mutation_p.R158H	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	158	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> C (in sporadic cancers; somatic mutation).|R -> F (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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.R158L(77)|p.R158H(74)|p.R158P(9)|p.R65L(8)|p.0?(8)|p.R26L(8)|p.R158fs(6)|p.R158fs*11(6)|p.R65H(5)|p.R26H(5)|p.R158_A159insX(4)|p.R65fs(2)|p.R158_A159delRA(2)|p.R156_I162delRVRAMAI(2)|p.V157fs*9(2)|p.P153fs*22(2)|p.R26fs(2)|p.V157fs*22(2)|p.V157_C176del20(1)|p.R156_A161delRVRAMA(1)|p.R158F(1)|p.P151_V173del23(1)|p.R156_R158delRVR(1)|p.R156fs*18(1)|p.R26fs*11(1)|p.R156_A161del(1)|p.V157_M160delVRAM(1)|p.V157_R158delVR(1)|p.S149fs*72(1)|p.A159fs*21(1)|p.T155_A161delTRVRAMA(1)|p.G154fs*22(1)|p.R65fs*11(1)|p.R156fs*20(1)|p.R158C(1)|p.V157_I162delVRAMAI(1)|p.V157fs*21(1)|p.R158fs*8(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)		GGCCATGGCGCGGACGCGGGT	0.627		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)			49	65					0	0	1	0	0	T	7578457	C	T	7578457	3	4	206	1	0	0	0	0	1	0	0	0	16442	768	27	1	825	1	TP53	17	7578457	Missense_Mutation	SNP	C	TCGA-FG-8188-01A-11D-2253-08	1336	7578457	73616753	37	25274											
DNAH9	1770	broad.mit.edu	37	17	11795176	11795176	+	Missense_Mutation	SNP	A	A	G			TCGA-FG-8188-01A-11D-2253-08	TCGA-FG-8188-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fec960b-9288-453a-8c65-5b3e04b61550	c145c9e4-6e4d-4f21-a264-4bbb8a82930a	g.chr17:11795176A>G	ENST00000262442.4	+	58	11263	c.11195A>G	c.(11194-11196)gAc>gGc	p.D3732G	DNAH9_ENST00000608377.1_Missense_Mutation_p.D44G|DNAH9_ENST00000396001.2_3'UTR|DNAH9_ENST00000454412.2_Missense_Mutation_p.D3732G	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9						cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		AACCTAATAGACAGCATAACC	0.542													6	170					0	0	1	0	0	G	11795176	A	G	11795176	3	3	206	1	0	0	0	0	1	0	0	0	4635	275	10	3	11425	3	DNAH9	17	11795176	Missense_Mutation	SNP	A	TCGA-FG-8188-01A-11D-2253-08	4216719	11795176	69400034	38	25275											
ASPSCR1	79058	broad.mit.edu	37	17	79943447	79943447	+	Missense_Mutation	SNP	C	C	G			TCGA-FG-8188-01A-11D-2253-08	TCGA-FG-8188-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fec960b-9288-453a-8c65-5b3e04b61550	c145c9e4-6e4d-4f21-a264-4bbb8a82930a	g.chr17:79943447C>G	ENST00000306729.7	+	4	435	c.338C>G	c.(337-339)aCc>aGc	p.T113S	ASPSCR1_ENST00000580534.1_Missense_Mutation_p.T36S|ASPSCR1_ENST00000581647.1_Missense_Mutation_p.T113S|ASPSCR1_ENST00000306739.4_Missense_Mutation_p.T113S	NM_001251888.1	NP_001238817.1	Q9BZE9	ASPC1_HUMAN	alveolar soft part sarcoma chromosome region, candidate 1	113							protein binding		ASPSCR1/TFE3(167)	breast(2)|large_intestine(2)	4	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)			TCAGGCCAGACCCTCTGGGAG	0.542			T	TFE3	alveolar soft part sarcoma								4	80					0	0	1	0	0	G	79943447	C	G	79943447	3	3	206	1	0	0	0	0	1	0	0	0	1058	507	18	5	352	5	ASPSCR1	17	79943447	Missense_Mutation	SNP	C	TCGA-FG-8188-01A-11D-2253-08	68148271	79943447	1251763	39	25276											
HMHA1	23526	broad.mit.edu	37	19	1085938	1085938	+	Missense_Mutation	SNP	C	C	T	rs146748497		TCGA-FG-8188-01A-11D-2253-08	TCGA-FG-8188-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fec960b-9288-453a-8c65-5b3e04b61550	c145c9e4-6e4d-4f21-a264-4bbb8a82930a	g.chr19:1085938C>T	ENST00000313093.2	+	23	3575	c.3344C>T	c.(3343-3345)cCc>cTc	p.P1115L	HMHA1_ENST00000586866.1_Missense_Mutation_p.P1119L|HMHA1_ENST00000543365.1_Missense_Mutation_p.P998L|HMHA1_ENST00000591169.1_3'UTR|HMHA1_ENST00000590214.1_Missense_Mutation_p.P1142L|HMHA1_ENST00000539243.2_Missense_Mutation_p.P1131L|HMHA1_ENST00000536472.1_Missense_Mutation_p.P983L|HMHA1_ENST00000590577.1_Missense_Mutation_p.P750L	NM_012292.3	NP_036424.2	Q92619	HMHA1_HUMAN	histocompatibility (minor) HA-1	1115					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(7)|ovary(1)|prostate(2)	16		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)		CCACTGCCCCCCATGAGGCTC	0.682													10	191					0	0	1	0	0	T	1085938	C	T	1085938	3	4	206	1	0	0	0	0	1	0	0	0	7281	623	22	2	3434	2	HMHA1	19	1085938	Missense_Mutation	SNP	C	TCGA-FG-8188-01A-11D-2253-08		1085938	58043045	40	25277											
SIGLEC11	114132	broad.mit.edu	37	19	50464040	50464040	+	Missense_Mutation	SNP	G	G	A	rs148651187	by1000genomes	TCGA-FG-8188-01A-11D-2253-08	TCGA-FG-8188-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fec960b-9288-453a-8c65-5b3e04b61550	c145c9e4-6e4d-4f21-a264-4bbb8a82930a	g.chr19:50464040G>A	ENST00000447370.2	-	2	319	c.229C>T	c.(229-231)Cgg>Tgg	p.R77W	SIGLEC11_ENST00000426971.2_Missense_Mutation_p.R77W	NM_052884.2	NP_443116.2	Q96RL6	SIG11_HUMAN	sialic acid binding Ig-like lectin 11	77	Ig-like V-type.				cell adhesion	integral to membrane	sugar binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1)	32		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517)		GGGCTGGTCCGTCCTTTGAAC	0.607													3	30					0	0	1	0	0	A	50464040	G	A	50464040	3	1	206	1	0	0	0	0	1	0	0	0	14362	1144	40	1	1907	1	SIGLEC11	19	50464040	Missense_Mutation	SNP	G	TCGA-FG-8188-01A-11D-2253-08	49378102	50464040	8664943	41	25278											
LILRA4	23547	broad.mit.edu	37	19	54850418	54850418	+	Translation_Start_Site	SNP	G	G	A	rs35407007	by1000genomes	TCGA-FG-8188-01A-11D-2253-08	TCGA-FG-8188-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fec960b-9288-453a-8c65-5b3e04b61550	c145c9e4-6e4d-4f21-a264-4bbb8a82930a	g.chr19:54850418G>A	ENST00000291759.4	-	0	3					NM_012276.3	NP_036408.3	P59901	LIRA4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4							integral to membrane	receptor activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	32	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0565)		CACGGTGCCCGTAGACACAGA	0.597													3	25					0	0	1	0	0	A	54850418	G	A	54850418	1	1	206	1	0	0	0	0	0	0	0	0	8827	1160	40	1		1	LILRA4	19	54850418	Translation_Start_Site	SNP	G	TCGA-FG-8188-01A-11D-2253-08	4386378	54850418	4278565	42	25279											
DBNDD2	55861	broad.mit.edu	37	20	44038638	44038640	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-FG-8188-01A-11D-2253-08	TCGA-FG-8188-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fec960b-9288-453a-8c65-5b3e04b61550	c145c9e4-6e4d-4f21-a264-4bbb8a82930a	g.chr20:44038638_44038640delCCT	ENST00000372712.2	+	4	925_927	c.344_346delCCT	c.(343-348)acctcc>acc	p.S121del	DBNDD2_ENST00000360981.4_In_Frame_Del_p.S121del|DBNDD2_ENST00000372710.3_In_Frame_Del_p.S223del|DBNDD2_ENST00000372722.3_3'UTR|DBNDD2_ENST00000372720.3_In_Frame_Del_p.S219del|DBNDD2_ENST00000357275.2_In_Frame_Del_p.S121del|SYS1-DBNDD2_ENST00000452133.1_3'UTR|DBNDD2_ENST00000372723.3_In_Frame_Del_p.S121del|SYS1-DBNDD2_ENST00000475242.1_3'UTR|DBNDD2_ENST00000372717.1_3'UTR			Q9BQY9	DBND2_HUMAN	dysbindin (dystrobrevin binding protein 1) domain containing 2	219					negative regulation of protein kinase activity	cytoplasm	protein binding			breast(1)|lung(2)	3		Myeloproliferative disorder(115;0.0122)				ACATCTAGGAcctcctcctcctc	0.567													3	4	---	---	---	---						-	44038640	CCT	-	44038638	7	5	206	1	0	1	0	1	0	0	0	0	4278	507	18	0	416	0	DBNDD2	20	44038638	In_Frame_Del	DEL	CCT	TCGA-FG-8188-01A-11D-2253-08		44038638	18986882	43	25280											
KRTAP10-12	386685	broad.mit.edu	37	21	46117134	46117134	+	Silent	SNP	C	C	T			TCGA-FG-8188-01A-11D-2253-08	TCGA-FG-8188-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fec960b-9288-453a-8c65-5b3e04b61550	c145c9e4-6e4d-4f21-a264-4bbb8a82930a	g.chr21:46117134C>T	ENST00000400365.3	+	1	48	c.18C>T	c.(16-18)agC>agT	p.S6S	TSPEAR_ENST00000323084.4_Intron	NM_198699.1	NP_941972.1	P60413	KR10C_HUMAN	keratin associated protein 10-12	6						keratin filament				large_intestine(1)|lung(8)	9						TCTGCTCCAGCGACCTGAGCT	0.642													27	166					0	0	1	0	0	T	46117134	C	T	46117134	2	4	206	1	0	0	0	0	0	0	0	1	8551	767	27	1		1	KRTAP10-12	21	46117134	Silent	SNP	C	TCGA-FG-8188-01A-11D-2253-08		46117134	2012761	44	25281											
ACOT9	23597	broad.mit.edu	37	X	23748659	23748659	+	Missense_Mutation	SNP	G	G	T			TCGA-FG-8188-01A-11D-2253-08	TCGA-FG-8188-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fec960b-9288-453a-8c65-5b3e04b61550	c145c9e4-6e4d-4f21-a264-4bbb8a82930a	g.chrX:23748659G>T	ENST00000379303.5	-	6	513	c.385C>A	c.(385-387)Ctt>Att	p.L129I	ACOT9_ENST00000492081.1_Missense_Mutation_p.L60I|ACOT9_ENST00000336430.7_Missense_Mutation_p.L120I|ACOT9_ENST00000379295.1_Missense_Mutation_p.L60I	NM_001037171.1	NP_001032248.1	Q9Y305	ACOT9_HUMAN	acyl-CoA thioesterase 9	120					acyl-CoA metabolic process	mitochondrion	acetyl-CoA hydrolase activity|carboxylesterase activity			breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(4)|pancreas(1)|skin(1)	15						AAGCTGTCAAGATCCTCAAGA	0.343													37	12					2.43139e-17	2.52144e-17	1	1	0	T	23748659	G	T	23748659	3	4	206	1	0	0	0	0	1	0	0	0	157	942	33	4	1005	4	ACOT9	23	23748659	Missense_Mutation	SNP	G	TCGA-FG-8188-01A-11D-2253-08		23748659	131521901	45	25282											
ATRX	546	broad.mit.edu	37	X	76939473	76939474	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-FG-8188-01A-11D-2253-08	TCGA-FG-8188-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fec960b-9288-453a-8c65-5b3e04b61550	c145c9e4-6e4d-4f21-a264-4bbb8a82930a	g.chrX:76939473_76939474delTT	ENST00000373344.5	-	9	1488_1489	c.1274_1275delAA	c.(1273-1275)aaafs	p.K425fs	ATRX_ENST00000395603.3_Frame_Shift_Del_p.K387fs|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	425					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)	TATTTTTCTCTTTGTTTACAGC	0.361			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						79	35	---	---	---	---						-	76939474	TT	-	76939473	7	5	206	1	0	1	0	1	0	0	0	0	1206	1606	56	0	6311	0	ATRX	23	76939473	Frame_Shift_Del	DEL	TT	TCGA-FG-8188-01A-11D-2253-08	53190814	76939473	78331087	46	25283											
PCDH19	57526	broad.mit.edu	37	X	99663560	99663562	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-FG-8188-01A-11D-2253-08	TCGA-FG-8188-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fec960b-9288-453a-8c65-5b3e04b61550	c145c9e4-6e4d-4f21-a264-4bbb8a82930a	g.chrX:99663560_99663562delCAG	ENST00000373034.4	-	1	1709_1711	c.34_36delCTG	c.(34-36)ctgdel	p.L12del	PCDH19_ENST00000255531.7_In_Frame_Del_p.L12del|PCDH19_ENST00000420881.2_In_Frame_Del_p.L12del	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	12					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						ACAGTATGGCCAGCAGCAGCAGC	0.665													2	4	---	---	---	---						-	99663562	CAG	-	99663560	7	5	206	1	0	1	0	1	0	0	0	0	11561	581	21	0	3434	0	PCDH19	23	99663560	In_Frame_Del	DEL	CAG	TCGA-FG-8188-01A-11D-2253-08	22724087	99663560	55607000	47	25284											
GPC4	2239	broad.mit.edu	37	X	132458383	132458383	+	Silent	SNP	G	G	A			TCGA-FG-8188-01A-11D-2253-08	TCGA-FG-8188-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fec960b-9288-453a-8c65-5b3e04b61550	c145c9e4-6e4d-4f21-a264-4bbb8a82930a	g.chrX:132458383G>A	ENST00000370828.3	-	3	1025	c.501C>T	c.(499-501)cgC>cgT	p.R167R	GPC4_ENST00000535467.1_Silent_p.R97R	NM_001448.2	NP_001439.2	O75487	GPC4_HUMAN	glypican 4	167					anatomical structure morphogenesis|cell proliferation	anchored to membrane|external side of plasma membrane|extracellular space|insoluble fraction|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;0.000127)					GCTCCAGGAGGCGAGCCCAGA	0.468													21	84					0	0	1	0	0	A	132458383	G	A	132458383	2	1	206	1	0	0	0	0	0	0	0	1	6640	1190	42	2		2	GPC4	23	132458383	Silent	SNP	G	TCGA-FG-8188-01A-11D-2253-08	32794823	132458383	22812177	48	25285											
FMR1	2332	broad.mit.edu	37	X	147010283	147010283	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-8188-01A-11D-2253-08	TCGA-FG-8188-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fec960b-9288-453a-8c65-5b3e04b61550	c145c9e4-6e4d-4f21-a264-4bbb8a82930a	g.chrX:147010283T>C	ENST00000218200.8	+	5	606	c.377T>C	c.(376-378)tTc>tCc	p.F126S	FMR1_ENST00000370475.4_Missense_Mutation_p.F126S|FMR1_ENST00000370477.1_Missense_Mutation_p.F126S|FMR1_ENST00000370471.3_Missense_Mutation_p.F126S|FMR1_ENST00000439526.2_Missense_Mutation_p.F126S|FMR1_ENST00000334557.6_Missense_Mutation_p.F126S|FMR1_ENST00000370470.1_Missense_Mutation_p.F126S	NM_001185076.1|NM_001185082.1	NP_001172005.1|NP_001172011.1	Q06787	FMR1_HUMAN	fragile X mental retardation 1	126					mRNA transport|negative regulation of translational initiation	cytoplasm|mRNA cap binding complex|nucleolus|nucleoplasm|soluble fraction	mRNA binding|protein binding			NS(1)|breast(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	35	Acute lymphoblastic leukemia(192;6.56e-05)					AAAGATACTTTCCATAAGATC	0.368									Fragile X syndrome				10	63					0	0	1	0	0	C	147010283	T	C	147010283	3	2	206	1	0	0	0	0	1	0	0	0	5993	1783	62	3	395	3	FMR1	23	147010283	Missense_Mutation	SNP	T	TCGA-FG-8188-01A-11D-2253-08	14551900	147010283	8260277	49	25286											
FAM129A	116496	broad.mit.edu	37	1	184863335	184863335	+	Silent	SNP	T	T	C			TCGA-FG-8189-01B-11D-A289-08	TCGA-FG-8189-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec88520-3464-4c47-afcc-36130f51125e	13bc5e25-1a60-4107-b129-99b0995a6897	g.chr1:184863335T>C	ENST00000367511.3	-	3	385	c.192A>G	c.(190-192)ccA>ccG	p.P64P		NM_052966.2	NP_443198.1	Q9BZQ8	NIBAN_HUMAN	family with sequence similarity 129, member A	64					negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						CAGGCGCCAATGGTGGCTTAA	0.343													5	54					0	0	1	0	0	C	184863335	T	C	184863335	2	2	207	1	0	0	0	0	0	0	0	1	5467	1451	51	3		3	FAM129A	1	184863335	Silent	SNP	T	TCGA-FG-8189-01B-11D-A289-08		184863335	64387286	1	25287											
RYR2	6262	broad.mit.edu	37	1	237954771	237954771	+	Frame_Shift_Del	DEL	T	T	-			TCGA-FG-8189-01B-11D-A289-08	TCGA-FG-8189-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec88520-3464-4c47-afcc-36130f51125e	13bc5e25-1a60-4107-b129-99b0995a6897	g.chr1:237954771delT	ENST00000366574.2	+	93	13836	c.13519delT	c.(13519-13521)ttafs	p.L4507fs	RYR2_ENST00000360064.6_Frame_Shift_Del_p.L4513fs|RYR2_ENST00000542537.1_Frame_Shift_Del_p.L4491fs	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4507					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AATGTTAGCCTTATTTGTCGC	0.343													2	4	---	---	---	---						-	237954771	T	-	237954771	7	5	207	1	0	1	0	1	0	0	0	0	13821	1606	56	0	13889	0	RYR2	1	237954771	Frame_Shift_Del	DEL	T	TCGA-FG-8189-01B-11D-A289-08	53091436	237954771	11295850	2	25288											
NHEJ1	79840	broad.mit.edu	37	2	220012390	220012390	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-8189-01B-11D-A289-08	TCGA-FG-8189-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec88520-3464-4c47-afcc-36130f51125e	13bc5e25-1a60-4107-b129-99b0995a6897	g.chr2:220012390G>A	ENST00000356853.5	-	4	651	c.518C>T	c.(517-519)aCg>aTg	p.T173M	NHEJ1_ENST00000409720.1_Missense_Mutation_p.T173M	NM_024782.2	NP_079058.1	Q9H9Q4	NHEJ1_HUMAN	nonhomologous end-joining factor 1	173					B cell differentiation|central nervous system development|DNA recombination|double-strand break repair via nonhomologous end joining|positive regulation of ligase activity|response to ionizing radiation|T cell differentiation	nonhomologous end joining complex|nucleus	DNA binding|identical protein binding			kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(2)	12		Renal(207;0.0915)		Epithelial(149;2.15e-06)|all cancers(144;0.000339)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0112)		TCGAATCAGCGTAGCCCCACT	0.478								Non-homologous end-joining					4	54					0	0	1	0	0	A	220012390	G	A	220012390	3	1	207	1	0	0	0	0	1	0	0	0	10449	1145	40	1	401	1	NHEJ1	2	220012390	Missense_Mutation	SNP	G	TCGA-FG-8189-01B-11D-A289-08		220012390	23186983	3	25289											
ITPR3	3710	broad.mit.edu	37	6	33632679	33632679	+	Missense_Mutation	SNP	C	C	A			TCGA-FG-8189-01B-11D-A289-08	TCGA-FG-8189-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec88520-3464-4c47-afcc-36130f51125e	13bc5e25-1a60-4107-b129-99b0995a6897	g.chr6:33632679C>A	ENST00000374316.5	+	13	2241	c.1181C>A	c.(1180-1182)aCc>aAc	p.T394N	ITPR3_ENST00000605930.1_Missense_Mutation_p.T394N			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	394	MIR 5.				activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding	p.T394N(4)		NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						CACCTCTGCACCAACACGTGG	0.662													4	54					0.184627	0.197815	1	1	0	A	33632679	C	A	33632679	3	1	207	1	0	0	0	0	1	0	0	0	7966	507	18	5	1227	5	ITPR3	6	33632679	Missense_Mutation	SNP	C	TCGA-FG-8189-01B-11D-A289-08		33632679	137482388	4	25290											
FREM1	158326	broad.mit.edu	37	9	14845980	14845980	+	Missense_Mutation	SNP	C	C	A			TCGA-FG-8189-01B-11D-A289-08	TCGA-FG-8189-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec88520-3464-4c47-afcc-36130f51125e	13bc5e25-1a60-4107-b129-99b0995a6897	g.chr9:14845980C>A	ENST00000380881.4	-	9	2189	c.1374G>T	c.(1372-1374)caG>caT	p.Q458H	FREM1_ENST00000422223.2_Missense_Mutation_p.Q457H|FREM1_ENST00000380880.3_Missense_Mutation_p.Q457H			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	457					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		GCCATCCATGCTGCAGGCCAC	0.443													3	27					1	1	1	1	0	A	14845980	C	A	14845980	3	1	207	1	0	0	0	0	1	0	0	0	6079	796	28	4	5338	4	FREM1	9	14845980	Missense_Mutation	SNP	C	TCGA-FG-8189-01B-11D-A289-08		14845980	126367451	5	25291											
LRRC4C	57689	broad.mit.edu	37	11	40137057	40137057	+	Silent	SNP	G	G	C			TCGA-FG-8189-01B-11D-A289-08	TCGA-FG-8189-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec88520-3464-4c47-afcc-36130f51125e	13bc5e25-1a60-4107-b129-99b0995a6897	g.chr11:40137057G>C	ENST00000278198.2	-	2	2749	c.786C>G	c.(784-786)gcC>gcG	p.A262A	LRRC4C_ENST00000530763.1_Silent_p.A262A|LRRC4C_ENST00000528697.1_Silent_p.A262A|LRRC4C_ENST00000527150.1_Silent_p.A262A			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	262					regulation of axonogenesis	integral to membrane	protein binding			NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				GGTTGTCAAAGGCATTCCGTT	0.453													7	104					0	0	1	0	0	C	40137057	G	C	40137057	2	2	207	1	0	0	0	0	0	0	0	1	9053	987	35	4		4	LRRC4C	11	40137057	Silent	SNP	G	TCGA-FG-8189-01B-11D-A289-08		40137057	94869459	6	25292											
FGF4	2249	broad.mit.edu	37	11	69588192	69588192	+	Missense_Mutation	SNP	T	T	G			TCGA-FG-8189-01B-11D-A289-08	TCGA-FG-8189-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec88520-3464-4c47-afcc-36130f51125e	13bc5e25-1a60-4107-b129-99b0995a6897	g.chr11:69588192T>G	ENST00000168712.1	-	3	824	c.506A>C	c.(505-507)tAc>tCc	p.Y169S	FGF4_ENST00000538040.1_5'UTR	NM_002007.2	NP_001998.1	P08620	FGF4_HUMAN	fibroblast growth factor 4	169					cell-cell signaling|chondroblast differentiation|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|mesenchymal cell proliferation|positive regulation of cell division|positive regulation of cell proliferation|positive regulation of ERK1 and ERK2 cascade	extracellular region	growth factor activity|heparin binding			lung(3)	3	Melanoma(5;1.89e-05)		LUSC - Lung squamous cell carcinoma(11;3.74e-15)|STAD - Stomach adenocarcinoma(18;0.0278)		Pentosan Polysulfate(DB00686)	GTAGGACTCGTAGGCGTTGTA	0.567													15	174					0	0	1	0	0	G	69588192	T	G	69588192	3	3	207	1	0	0	0	0	1	0	0	0	5887	1638	57	5	118	5	FGF4	11	69588192	Missense_Mutation	SNP	T	TCGA-FG-8189-01B-11D-A289-08	29451135	69588192	65418324	7	25293											
IDH2	3418	broad.mit.edu	37	15	90631839	90631839	+	Missense_Mutation	SNP	T	T	A			TCGA-FG-8189-01B-11D-A289-08	TCGA-FG-8189-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec88520-3464-4c47-afcc-36130f51125e	13bc5e25-1a60-4107-b129-99b0995a6897	g.chr15:90631839T>A	ENST00000330062.3	-	4	627	c.514A>T	c.(514-516)Agg>Tgg	p.R172W	IDH2_ENST00000539790.1_Missense_Mutation_p.R42W|IDH2_ENST00000540499.2_Missense_Mutation_p.R120W|IDH2_ENST00000559482.1_Intron	NM_002168.2	NP_002159.2	P48735	IDHP_HUMAN	isocitrate dehydrogenase 2 (NADP+), mitochondrial	172					2-oxoglutarate metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding	p.R172W(12)|p.R172G(2)		biliary_tract(11)|bone(19)|central_nervous_system(107)|endometrium(1)|haematopoietic_and_lymphoid_tissue(953)|large_intestine(8)|lung(5)|skin(5)	1109	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.106)			TGGGCGTGCCTGCCAATGGTG	0.627			M		GBM								8	80					0	0	1	0	0	A	90631839	T	A	90631839	3	1	207	1	0	0	0	0	1	0	0	0	7539	1579	55	5	876	5	IDH2	15	90631839	Missense_Mutation	SNP	T	TCGA-FG-8189-01B-11D-A289-08		90631839	11899553	8	25294											
PRPS1	5631	broad.mit.edu	37	X	106890921	106890921	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-8189-01B-11D-A289-08	TCGA-FG-8189-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec88520-3464-4c47-afcc-36130f51125e	13bc5e25-1a60-4107-b129-99b0995a6897	g.chrX:106890921G>A	ENST00000372435.4	+	6	912	c.790G>A	c.(790-792)Gca>Aca	p.A264T	PRPS1_ENST00000372428.4_Missense_Mutation_p.A197T|PRPS1_ENST00000372418.1_Missense_Mutation_p.A164T|PRPS1_ENST00000543248.1_Missense_Mutation_p.A264T	NM_002764.3	NP_002755.1	P60891	PRPS1_HUMAN	phosphoribosyl pyrophosphate synthetase 1	264					5-phosphoribose 1-diphosphate biosynthetic process|hypoxanthine biosynthetic process|nervous system development|nucleoside metabolic process|purine nucleotide biosynthetic process|pyrimidine nucleotide biosynthetic process|ribonucleoside monophosphate biosynthetic process|urate biosynthetic process	cytosol	ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity			breast(3)|endometrium(2)|kidney(3)|large_intestine(3)|lung(11)|upper_aerodigestive_tract(1)	23						CATCAACAACGCATGCTTTGA	0.453													10	109					0	0	1	0	0	A	106890921	G	A	106890921	3	1	207	1	0	0	0	0	1	0	0	0	12630	1087	38	1	812	1	PRPS1	23	106890921	Missense_Mutation	SNP	G	TCGA-FG-8189-01B-11D-A289-08		106890921	48379639	9	25295											
CD99L2	83692	broad.mit.edu	37	X	149984524	149984526	+	In_Frame_Del	DEL	GTG	GTG	-			TCGA-FG-8189-01B-11D-A289-08	TCGA-FG-8189-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec88520-3464-4c47-afcc-36130f51125e	13bc5e25-1a60-4107-b129-99b0995a6897	g.chrX:149984524_149984526delGTG	ENST00000370377.3	-	3	273_275	c.156_158delCAC	c.(154-159)accaca>aca	p.52_53TT>T	CD99L2_ENST00000437787.2_In_Frame_Del_p.52_53TT>T|CD99L2_ENST00000346693.4_5'UTR|CD99L2_ENST00000355149.3_Intron|CD99L2_ENST00000466436.1_Intron	NM_001242614.1|NM_031462.3	NP_001229543.1|NP_113650.2	Q8TCZ2	C99L2_HUMAN	CD99 molecule-like 2	52	Poly-Thr.				cell adhesion	cell junction|integral to membrane				endometrium(4)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					CCTATTGGTTGTGGTGGTGGTGG	0.552													7	347	---	---	---	---						-	149984526	GTG	-	149984524	7	5	207	1	0	1	0	1	0	0	0	0	3073	1377	48	0	666	0	CD99L2	23	149984524	In_Frame_Del	DEL	GTG	TCGA-FG-8189-01B-11D-A289-08	43093603	149984524	5286036	10	25296											
ZMYM6	9204	broad.mit.edu	37	1	35476495	35476495	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-8191-01A-11D-2253-08	TCGA-FG-8191-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcc461af-d70d-4fca-ae7f-3f09367b6d51	6a19fe53-192d-492a-98ba-54d24a6f3574	g.chr1:35476495C>T	ENST00000357182.4	-	9	1432	c.1205G>A	c.(1204-1206)cGt>cAt	p.R402H	ZMYM6_ENST00000373340.2_Missense_Mutation_p.R402H|ZMYM6_ENST00000487874.1_Missense_Mutation_p.R402H|ZMYM6_ENST00000493328.1_5'UTR	NM_007167.3	NP_009098.3	O95789	ZMYM6_HUMAN	zinc finger, MYM-type 6	402					multicellular organismal development	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(10)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	44		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13)				AGCAGAGCCACGGATGGAGCT	0.547													8	68					0	0	1	0	0	T	35476495	C	T	35476495	3	4	208	1	0	0	0	0	1	0	0	0	17762	536	19	1	2804	1	ZMYM6	1	35476495	Missense_Mutation	SNP	C	TCGA-FG-8191-01A-11D-2253-08		35476495	213774126	1	25297											
FAF1	11124	broad.mit.edu	37	1	50907162	50907162	+	Frame_Shift_Del	DEL	C	C	-			TCGA-FG-8191-01A-11D-2253-08	TCGA-FG-8191-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcc461af-d70d-4fca-ae7f-3f09367b6d51	6a19fe53-192d-492a-98ba-54d24a6f3574	g.chr1:50907162delC	ENST00000396153.2	-	19	2354	c.1903delG	c.(1903-1905)gagfs	p.E635fs	FAF1_ENST00000545823.1_Frame_Shift_Del_p.E393fs|FAF1_ENST00000371778.4_Frame_Shift_Del_p.E635fs	NM_007051.2	NP_008982.1	Q9UNN5	FAF1_HUMAN	Fas (TNFRSF6) associated factor 1	635	UBX.				apoptosis|cytoplasmic sequestering of NF-kappaB|positive regulation of apoptosis|positive regulation of protein complex assembly|proteasomal ubiquitin-dependent protein catabolic process|regulation of protein catabolic process	CD95 death-inducing signaling complex|cytosol|perinuclear region of cytoplasm	heat shock protein binding|NF-kappaB binding|protein kinase binding|protein kinase regulator activity			breast(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|pancreas(2)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(3;3.18e-11)|all cancers(3;0.00526)		AACTTTACCTCCAATAATGAT	0.423													2	4	---	---	---	---						-	50907162	C	-	50907162	7	5	208	1	0	1	0	1	0	0	0	0	5400	864	30	0	53	0	FAF1	1	50907162	Frame_Shift_Del	DEL	C	TCGA-FG-8191-01A-11D-2253-08	15430667	50907162	198343459	2	25298											
SEC16B	89866	broad.mit.edu	37	1	177909803	177909803	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-8191-01A-11D-2253-08	TCGA-FG-8191-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcc461af-d70d-4fca-ae7f-3f09367b6d51	6a19fe53-192d-492a-98ba-54d24a6f3574	g.chr1:177909803C>T	ENST00000308284.6	-	17	2158	c.2069G>A	c.(2068-2070)cGc>cAc	p.R690H	RP4-798P15.3_ENST00000354921.3_RNA	NM_033127.2	NP_149118.2	Q96JE7	SC16B_HUMAN	SEC16 homolog B (S. cerevisiae)	690					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						GTCTCCACTGCGTCTTTCTAA	0.562													21	22					0	0	1	0	0	T	177909803	C	T	177909803	3	4	208	1	0	0	0	0	1	0	0	0	14041	768	27	1	1153	1	SEC16B	1	177909803	Missense_Mutation	SNP	C	TCGA-FG-8191-01A-11D-2253-08	127002641	177909803	71340818	3	25299											
NID1	4811	broad.mit.edu	37	1	236144995	236144995	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-8191-01A-11D-2253-08	TCGA-FG-8191-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcc461af-d70d-4fca-ae7f-3f09367b6d51	6a19fe53-192d-492a-98ba-54d24a6f3574	g.chr1:236144995G>A	ENST00000264187.6	-	16	3225	c.3143C>T	c.(3142-3144)gCg>gTg	p.A1048V	NID1_ENST00000366595.3_Missense_Mutation_p.A915V	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	1048					cell-matrix adhesion	basement membrane	calcium ion binding			breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Becaplermin(DB00102)|Urokinase(DB00013)	GTCCAGCTTCGCCACTTCTAT	0.498													22	38					0	0	1	0	0	A	236144995	G	A	236144995	3	1	208	1	0	0	0	0	1	0	0	0	10461	1087	38	1	620	1	NID1	1	236144995	Missense_Mutation	SNP	G	TCGA-FG-8191-01A-11D-2253-08	58235192	236144995	13105626	4	25300											
RYR2	6262	broad.mit.edu	37	1	237754205	237754205	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-8191-01A-11D-2253-08	TCGA-FG-8191-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcc461af-d70d-4fca-ae7f-3f09367b6d51	6a19fe53-192d-492a-98ba-54d24a6f3574	g.chr1:237754205G>A	ENST00000366574.2	+	31	4390	c.4073G>A	c.(4072-4074)cGt>cAt	p.R1358H	RYR2_ENST00000360064.6_Missense_Mutation_p.R1356H|RYR2_ENST00000542537.1_Missense_Mutation_p.R1342H	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1358	4 X approximate repeats.|B30.2/SPRY 3.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GTGCCCGATCGTGTTGACAAA	0.428													8	22					0	0	1	0	0	A	237754205	G	A	237754205	3	1	208	1	0	0	0	0	1	0	0	0	13821	1145	40	1	4195	1	RYR2	1	237754205	Missense_Mutation	SNP	G	TCGA-FG-8191-01A-11D-2253-08	1609210	237754205	11496416	5	25301											
LRP1B	53353	broad.mit.edu	37	2	141607789	141607789	+	Silent	SNP	G	G	A			TCGA-FG-8191-01A-11D-2253-08	TCGA-FG-8191-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcc461af-d70d-4fca-ae7f-3f09367b6d51	6a19fe53-192d-492a-98ba-54d24a6f3574	g.chr2:141607789G>A	ENST00000389484.3	-	29	5792	c.4821C>T	c.(4819-4821)gaC>gaT	p.D1607D		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1607					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.D1607D(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TCACAGTAACGTCATCAATAT	0.368										TSP Lung(27;0.18)			10	44					0	0	1	0	0	A	141607789	G	A	141607789	2	1	208	1	0	0	0	0	0	0	0	1	9000	1136	40	1		1	LRP1B	2	141607789	Silent	SNP	G	TCGA-FG-8191-01A-11D-2253-08		141607789	101591584	6	25302											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-FG-8191-01A-11D-2253-08	TCGA-FG-8191-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcc461af-d70d-4fca-ae7f-3f09367b6d51	6a19fe53-192d-492a-98ba-54d24a6f3574	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	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								23	43					0	0	1	0	0	T	209113112	C	T	209113112	3	4	208	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-FG-8191-01A-11D-2253-08	67505323	209113112	34086261	7	25303											
OR5K4	403278	broad.mit.edu	37	3	98073379	98073379	+	Missense_Mutation	SNP	A	A	T			TCGA-FG-8191-01A-11D-2253-08	TCGA-FG-8191-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcc461af-d70d-4fca-ae7f-3f09367b6d51	6a19fe53-192d-492a-98ba-54d24a6f3574	g.chr3:98073379A>T	ENST00000354924.2	+	1	682	c.682A>T	c.(682-684)Atg>Ttg	p.M228L	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005517.1	NP_001005517.1	A6NMS3	OR5K4_HUMAN	olfactory receptor, family 5, subfamily K, member 4	228					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	21						TGTTTTCAAAATGAAATCCAA	0.338													3	30					0	0	1	0	0	T	98073379	A	T	98073379	3	4	208	1	0	0	0	0	1	0	0	0	11216	101	4	4	684	4	OR5K4	3	98073379	Missense_Mutation	SNP	A	TCGA-FG-8191-01A-11D-2253-08		98073379	99949051	8	25304											
SNX18	112574	broad.mit.edu	37	5	53815358	53815358	+	Missense_Mutation	SNP	C	C	G			TCGA-FG-8191-01A-11D-2253-08	TCGA-FG-8191-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcc461af-d70d-4fca-ae7f-3f09367b6d51	6a19fe53-192d-492a-98ba-54d24a6f3574	g.chr5:53815358C>G	ENST00000343017.6	+	1	1770	c.1576C>G	c.(1576-1578)Cag>Gag	p.Q526E	SNX18_ENST00000326277.3_Missense_Mutation_p.Q526E|SNX18_ENST00000381410.4_Missense_Mutation_p.Q526E	NM_001145427.1	NP_001138899.1	Q96RF0	SNX18_HUMAN	sorting nexin 18	526	BAR.				cell communication|endocytosis|positive regulation of GTPase activity|protein transport	endomembrane system|endosome membrane|extrinsic to internal side of plasma membrane	phosphatidylinositol binding|protein binding			endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	18		Lung NSC(810;3.46e-05)|Breast(144;0.102)				AGCGCTGTATCAGGGGCATCT	0.557													6	117					0	0	1	0	0	G	53815358	C	G	53815358	3	3	208	1	0	0	0	0	1	0	0	0	14943	827	29	5	1578	5	SNX18	5	53815358	Missense_Mutation	SNP	C	TCGA-FG-8191-01A-11D-2253-08		53815358	127099902	9	25305											
IBTK	25998	broad.mit.edu	37	6	82912294	82912294	+	Missense_Mutation	SNP	A	A	G			TCGA-FG-8191-01A-11D-2253-08	TCGA-FG-8191-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcc461af-d70d-4fca-ae7f-3f09367b6d51	6a19fe53-192d-492a-98ba-54d24a6f3574	g.chr6:82912294A>G	ENST00000306270.7	-	18	3229	c.2680T>C	c.(2680-2682)Tct>Cct	p.S894P	IBTK_ENST00000503631.1_Missense_Mutation_p.S693P|IBTK_ENST00000510291.1_Missense_Mutation_p.S894P	NM_015525.2	NP_056340.2	Q9P2D0	IBTK_HUMAN	inhibitor of Bruton agammaglobulinemia tyrosine kinase	894					negative regulation of protein phosphorylation|release of sequestered calcium ion into cytosol	cytoplasm|membrane|nucleus	protein kinase binding|protein tyrosine kinase inhibitor activity			central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(10)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	54		all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037)		BRCA - Breast invasive adenocarcinoma(397;0.0901)		TGTAAACAAGACAGTTTCAAC	0.343													14	111					0	0	1	0	0	G	82912294	A	G	82912294	3	3	208	1	0	0	0	0	1	0	0	0	7520	275	10	3	1429	3	IBTK	6	82912294	Missense_Mutation	SNP	A	TCGA-FG-8191-01A-11D-2253-08		82912294	88202773	10	25306											
SLC35F1	222553	broad.mit.edu	37	6	118588282	118588282	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-8191-01A-11D-2253-08	TCGA-FG-8191-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcc461af-d70d-4fca-ae7f-3f09367b6d51	6a19fe53-192d-492a-98ba-54d24a6f3574	g.chr6:118588282G>A	ENST00000360388.4	+	4	803	c.602G>A	c.(601-603)gGa>gAa	p.G201E		NM_001029858.3	NP_001025029.2	Q5T1Q4	S35F1_HUMAN	solute carrier family 35, member F1	201					transport	integral to membrane				breast(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(226;0.217)		TGCATGGTGGGAGCAGATGTG	0.537													8	170					0	0	1	0	0	A	118588282	G	A	118588282	3	1	208	1	0	0	0	0	1	0	0	0	14643	1174	41	2	616	2	SLC35F1	6	118588282	Missense_Mutation	SNP	G	TCGA-FG-8191-01A-11D-2253-08	35675988	118588282	52526785	11	25307											
WNT2	7472	broad.mit.edu	37	7	116937826	116937826	+	Silent	SNP	G	G	A			TCGA-FG-8191-01A-11D-2253-08	TCGA-FG-8191-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcc461af-d70d-4fca-ae7f-3f09367b6d51	6a19fe53-192d-492a-98ba-54d24a6f3574	g.chr7:116937826G>A	ENST00000265441.3	-	4	992	c.693C>T	c.(691-693)ggC>ggT	p.G231G		NM_003391.2	NP_003382.1	P09544	WNT2_HUMAN	wingless-type MMTV integration site family member 2	231					atrial cardiac muscle tissue morphogenesis|canonical Wnt receptor signaling pathway|cardiac epithelial to mesenchymal transition|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|dorsal/ventral axis specification|iris morphogenesis|labyrinthine layer blood vessel development|lens development in camera-type eye|lung induction|mammary gland epithelium development|neuron differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of fibroblast proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, calcium modulating pathway	cytoplasm|extracellular space|proteinaceous extracellular matrix	cytokine activity|frizzled binding|frizzled-2 binding|signal transducer activity			breast(2)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|ovary(3)|prostate(1)|skin(2)	31	all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		AGAGATAATCGCCCGTTTTCC	0.532													5	100					0	0	1	0	0	A	116937826	G	A	116937826	2	1	208	1	0	0	0	0	0	0	0	1	17446	1074	38	1		1	WNT2	7	116937826	Silent	SNP	G	TCGA-FG-8191-01A-11D-2253-08		116937826	42200837	12	25308											
EPHB6	2051	broad.mit.edu	37	7	142562152	142562152	+	Silent	SNP	G	G	A			TCGA-FG-8191-01A-11D-2253-08	TCGA-FG-8191-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcc461af-d70d-4fca-ae7f-3f09367b6d51	6a19fe53-192d-492a-98ba-54d24a6f3574	g.chr7:142562152G>A	ENST00000392957.2	+	7	1381	c.594G>A	c.(592-594)gaG>gaA	p.E198E	EPHB6_ENST00000411471.2_Intron|EPHB6_ENST00000442129.1_Silent_p.E198E	NM_004445.3	NP_004436.3	O15197	EPHB6_HUMAN	EPH receptor B6	198						extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					ACGTCAAAGAGCGGAGCTTTG	0.657													11	254					0	0	1	0	0	A	142562152	G	A	142562152	2	1	208	1	0	0	0	0	0	0	0	1	5206	962	34	2		2	EPHB6	7	142562152	Silent	SNP	G	TCGA-FG-8191-01A-11D-2253-08	25624326	142562152	16576511	13	25309											
NKX3-1	4824	broad.mit.edu	37	8	23539038	23539038	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-8191-01A-11D-2253-08	TCGA-FG-8191-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcc461af-d70d-4fca-ae7f-3f09367b6d51	6a19fe53-192d-492a-98ba-54d24a6f3574	g.chr8:23539038G>A	ENST00000380871.4	-	2	438	c.401C>T	c.(400-402)aCt>aTt	p.T134I	NKX3-1_ENST00000523261.1_Missense_Mutation_p.T59I	NM_006167.3	NP_006158.2	Q99801	NKX31_HUMAN	NK3 homeobox 1	134					negative regulation of estrogen receptor binding|negative regulation of transcription, DNA-dependent|positive regulation of cell division|positive regulation of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter	nucleus	estrogen receptor activity|estrogen receptor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region sequence-specific DNA binding			large_intestine(3)|lung(4)|prostate(5)|skin(2)	14		Prostate(55;0.114)		Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)|BRCA - Breast invasive adenocarcinoma(99;0.0708)		GATCACCTGAGTGTGGGAGAA	0.577													14	117					0	0	1	0	0	A	23539038	G	A	23539038	3	1	208	1	0	0	0	0	1	0	0	0	10502	1029	36	2	307	2	NKX3-1	8	23539038	Missense_Mutation	SNP	G	TCGA-FG-8191-01A-11D-2253-08		23539038	122824984	14	25310											
FAM189A2	9413	broad.mit.edu	37	9	72000864	72000864	+	Splice_Site	SNP	G	G	T			TCGA-FG-8191-01A-11D-2253-08	TCGA-FG-8191-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcc461af-d70d-4fca-ae7f-3f09367b6d51	6a19fe53-192d-492a-98ba-54d24a6f3574	g.chr9:72000864G>T	ENST00000257515.8	+	9	1276		c.e9+1		FAM189A2_ENST00000469179.1_Splice_Site|FAM189A2_ENST00000303068.7_Splice_Site|FAM189A2_ENST00000455972.1_Splice_Site	NM_004816.3	NP_004807.3	Q15884	F1892_HUMAN	family with sequence similarity 189, member A2							integral to membrane				endometrium(3)|large_intestine(5)|liver(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	12						GAGGAGAGAGGTGATGTCATT	0.577													15	35					2.23348e-06	2.4277e-06	1	1	0	T	72000864	G	T	72000864	5	4	208	1	0	0	0	0	0	0	1	0	5548	1275	44	5	887	5	FAM189A2	9	72000864	Splice_Site	SNP	G	TCGA-FG-8191-01A-11D-2253-08		72000864	69212567	15	25311											
MYO3A	53904	broad.mit.edu	37	10	26432481	26432481	+	Silent	SNP	A	A	G			TCGA-FG-8191-01A-11D-2253-08	TCGA-FG-8191-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcc461af-d70d-4fca-ae7f-3f09367b6d51	6a19fe53-192d-492a-98ba-54d24a6f3574	g.chr10:26432481A>G	ENST00000265944.5	+	21	2533	c.2367A>G	c.(2365-2367)ctA>ctG	p.L789L	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	789	Myosin head-like.				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						TACTTTCCCTACTTGATGAAG	0.403													21	30					0	0	1	0	0	G	26432481	A	G	26432481	2	3	208	1	0	0	0	0	0	0	0	1	10124	378	14	3		3	MYO3A	10	26432481	Silent	SNP	A	TCGA-FG-8191-01A-11D-2253-08		26432481	109102266	16	25312											
PNLIPRP2	5408	broad.mit.edu	37	10	118396278	118396279	+	RNA	INS	-	-	T	rs11197776	by1000genomes	TCGA-FG-8191-01A-11D-2253-08	TCGA-FG-8191-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcc461af-d70d-4fca-ae7f-3f09367b6d51	6a19fe53-192d-492a-98ba-54d24a6f3574	g.chr10:118396278_118396279insT	ENST00000537242.1	+	0	962				PNLIPRP2_ENST00000433618.4_RNA|PNLIPRP2_ENST00000298771.7_RNA	NM_005396.4	NP_005387.2	P54317	LIPR2_HUMAN	pancreatic lipase-related protein 2						galactolipid catabolic process|lipid digestion|phospholipid catabolic process|triglyceride metabolic process	extracellular space	acylglycerol lipase activity|calcium ion binding|galactolipase activity|phospholipase activity|triglyceride lipase activity			endometrium(1)|large_intestine(1)|lung(11)|prostate(3)	16				all cancers(201;0.015)		ACAAATTATGGTTTTTTTTTTC	0.426													2	4	---	---	---	---						T	118396279	-	T	118396278	6	5	208	0	1	1	1	0	0	0	0	0	12199	1276	44	0		0	PNLIPRP2	10	118396278	RNA	INS	-	TCGA-FG-8191-01A-11D-2253-08	91963797	118396278	17138469	17	25313											
SPDYC	387778	broad.mit.edu	37	11	64939962	64939962	+	Silent	SNP	A	A	G			TCGA-FG-8191-01A-11D-2253-08	TCGA-FG-8191-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcc461af-d70d-4fca-ae7f-3f09367b6d51	6a19fe53-192d-492a-98ba-54d24a6f3574	g.chr11:64939962A>G	ENST00000377185.2	+	5	484	c.402A>G	c.(400-402)ccA>ccG	p.P134P		NM_001008778.1	NP_001008778.1	Q5MJ68	SPDYC_HUMAN	speedy/RINGO cell cycle regulator family member C	134	Speedy/Ringo box; Required for CDK- binding (By similarity).				cell cycle	nucleus	protein kinase binding			breast(1)|endometrium(3)|large_intestine(2)|lung(9)|prostate(1)	16						AGATTTTTCCATGGGCCCTGG	0.562													44	87					0	0	1	0	0	G	64939962	A	G	64939962	2	3	208	1	0	0	0	0	0	0	0	1	15084	204	8	3		3	SPDYC	11	64939962	Silent	SNP	A	TCGA-FG-8191-01A-11D-2253-08		64939962	70066554	18	25314											
MTNR1B	4544	broad.mit.edu	37	11	92714797	92714797	+	Silent	SNP	T	T	C			TCGA-FG-8191-01A-11D-2253-08	TCGA-FG-8191-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcc461af-d70d-4fca-ae7f-3f09367b6d51	6a19fe53-192d-492a-98ba-54d24a6f3574	g.chr11:92714797T>C	ENST00000257068.2	+	2	414	c.408T>C	c.(406-408)atT>atC	p.I136I		NM_005959.3	NP_005950.1	P49286	MTR1B_HUMAN	melatonin receptor 1B	136					G-protein signaling, coupled to cyclic nucleotide second messenger|glucose homeostasis|regulation of insulin secretion|synaptic transmission	integral to plasma membrane	melatonin receptor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	33		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)			Ramelteon(DB00980)	CCATCGCCATTAACCGCTACT	0.607													6	54					0	0	1	0	0	C	92714797	T	C	92714797	2	2	208	1	0	0	0	0	0	0	0	1	10000	1742	61	3		3	MTNR1B	11	92714797	Silent	SNP	T	TCGA-FG-8191-01A-11D-2253-08	27774835	92714797	42291719	19	25315											
EML5	161436	broad.mit.edu	37	14	89093251	89093251	+	Missense_Mutation	SNP	G	G	C			TCGA-FG-8191-01A-11D-2253-08	TCGA-FG-8191-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcc461af-d70d-4fca-ae7f-3f09367b6d51	6a19fe53-192d-492a-98ba-54d24a6f3574	g.chr14:89093251G>C	ENST00000554922.1	-	35	4919	c.4671C>G	c.(4669-4671)agC>agG	p.S1557R	EML5_ENST00000553320.1_5'UTR|EML5_ENST00000380664.5_Missense_Mutation_p.S1549R|EML5_ENST00000352093.5_Missense_Mutation_p.S1511R	NM_183387.2	NP_899243.1	Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like 5	1549						cytoplasm|microtubule				breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						GCCCTTTTTTGCTAAGAAGAG	0.463													17	30					0	0	1	0	0	C	89093251	G	C	89093251	3	2	208	1	0	0	0	0	1	0	0	0	5128	1310	46	5	1302	5	EML5	14	89093251	Missense_Mutation	SNP	G	TCGA-FG-8191-01A-11D-2253-08		89093251	18256289	20	25316											
ARHGAP11A	9824	broad.mit.edu	37	15	32917835	32917835	+	Splice_Site	SNP	G	G	C			TCGA-FG-8191-01A-11D-2253-08	TCGA-FG-8191-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcc461af-d70d-4fca-ae7f-3f09367b6d51	6a19fe53-192d-492a-98ba-54d24a6f3574	g.chr15:32917835G>C	ENST00000361627.3	+	6	1584		c.e6+1		ARHGAP11A_ENST00000563864.1_Splice_Site|ARHGAP11A_ENST00000567348.1_Splice_Site|ARHGAP11A_ENST00000543522.1_Splice_Site|ARHGAP11A_ENST00000565905.1_Splice_Site	NM_014783.3	NP_055598.1	Q6P4F7	RHGBA_HUMAN	Rho GTPase activating protein 11A						regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		all_lung(180;1.3e-11)		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)		AGTGTAGGAGGTAAGTGGCGG	0.408													7	90					0	0	1	0	0	C	32917835	G	C	32917835	5	2	208	1	0	0	0	0	0	0	1	0	860	1275	44	5	885	5	ARHGAP11A	15	32917835	Splice_Site	SNP	G	TCGA-FG-8191-01A-11D-2253-08		32917835	69613557	21	25317											
SF3B3	23450	broad.mit.edu	37	16	70594469	70594469	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-8191-01A-11D-2253-08	TCGA-FG-8191-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcc461af-d70d-4fca-ae7f-3f09367b6d51	6a19fe53-192d-492a-98ba-54d24a6f3574	g.chr16:70594469G>A	ENST00000302516.5	+	16	2319	c.2108G>A	c.(2107-2109)cGa>cAa	p.R703Q		NM_012426.4	NP_036558.3	Q15393	SF3B3_HUMAN	splicing factor 3b, subunit 3, 130kDa	703					protein complex assembly	catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex	nucleic acid binding|protein binding			breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53		Ovarian(137;0.0694)				AAGCTCTTCCGAGTCCGAATG	0.522													4	73					0	0	1	0	0	A	70594469	G	A	70594469	3	1	208	1	0	0	0	0	1	0	0	0	14206	1058	37	1	2166	1	SF3B3	16	70594469	Missense_Mutation	SNP	G	TCGA-FG-8191-01A-11D-2253-08		70594469	19760284	22	25318											
TP53	7157	broad.mit.edu	37	17	7579350	7579350	+	Missense_Mutation	SNP	A	A	C			TCGA-FG-8191-01A-11D-2253-08	TCGA-FG-8191-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcc461af-d70d-4fca-ae7f-3f09367b6d51	6a19fe53-192d-492a-98ba-54d24a6f3574	g.chr17:7579350A>C	ENST00000420246.2	-	4	469	c.337T>G	c.(337-339)Ttc>Gtc	p.F113V	TP53_ENST00000413465.2_Missense_Mutation_p.F113V|TP53_ENST00000445888.2_Missense_Mutation_p.F113V|TP53_ENST00000455263.2_Missense_Mutation_p.F113V|TP53_ENST00000359597.4_Missense_Mutation_p.F113V|TP53_ENST00000269305.4_Missense_Mutation_p.F113V	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	113	Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		F -> C (in sporadic cancers; somatic mutation).|F -> G (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|F -> I (in a sporadic cancer; somatic mutation).|F -> L (in sporadic cancers; somatic mutation).|F -> S (in sporadic cancers; somatic mutation).|F -> V (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.0?(8)|p.F113V(7)|p.G59fs*23(3)|p.V73fs*9(1)|p.G105_T125del21(1)|p.G112_V122delGFLHSGTAKSV(1)|p.G112fs*9(1)|p.Y107fs*44(1)|p.G112_S116delGFLHS(1)|p.P13fs*18(1)|p.S33fs*23(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)		GAATGCAAGAAGCCCAGACGG	0.607		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)			55	26					0	0	1	0	0	C	7579350	A	C	7579350	3	2	208	1	0	0	0	0	1	0	0	0	16442	72	3	5	965	5	TP53	17	7579350	Missense_Mutation	SNP	A	TCGA-FG-8191-01A-11D-2253-08		7579350	73615860	23	25319											
MYH10	4628	broad.mit.edu	37	17	8397110	8397110	+	Missense_Mutation	SNP	C	C	G			TCGA-FG-8191-01A-11D-2253-08	TCGA-FG-8191-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcc461af-d70d-4fca-ae7f-3f09367b6d51	6a19fe53-192d-492a-98ba-54d24a6f3574	g.chr17:8397110C>G	ENST00000360416.3	-	32	4288	c.4150G>C	c.(4150-4152)Gag>Cag	p.E1384Q	MYH10_ENST00000379980.4_Missense_Mutation_p.E1369Q|MYH10_ENST00000396239.1_Missense_Mutation_p.E1374Q|MYH10_ENST00000269243.4_Missense_Mutation_p.E1353Q	NM_001256012.1	NP_001242941.1	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	1353					actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						TCCTCCTCCTCCTGCTGCTCC	0.587													3	44					0	0	1	0	0	G	8397110	C	G	8397110	3	3	208	1	0	0	0	0	1	0	0	0	10078	864	30	5	1921	5	MYH10	17	8397110	Missense_Mutation	SNP	C	TCGA-FG-8191-01A-11D-2253-08	817760	8397110	72798100	24	25320											
MFAP4	4239	broad.mit.edu	37	17	19290401	19290401	+	Silent	SNP	G	G	A			TCGA-FG-8191-01A-11D-2253-08	TCGA-FG-8191-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcc461af-d70d-4fca-ae7f-3f09367b6d51	6a19fe53-192d-492a-98ba-54d24a6f3574	g.chr17:19290401G>A	ENST00000395592.2	-	1	102	c.31C>T	c.(31-33)Ctg>Ttg	p.L11L	MFAP4_ENST00000299610.4_Intron	NM_001198695.1	NP_001185624.1	P55083	MFAP4_HUMAN	microfibrillar-associated protein 4	0					cell adhesion|signal transduction	microfibril	receptor binding			large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	10	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)					TCTGTGGCCAGGGGCCTCTGG	0.597													13	17					0	0	1	0	0	A	19290401	G	A	19290401	2	1	208	1	0	0	0	0	0	0	0	1	9567	1015	35	2		2	MFAP4	17	19290401	Silent	SNP	G	TCGA-FG-8191-01A-11D-2253-08	10893291	19290401	61904809	25	25321											
GPATCH8	23131	broad.mit.edu	37	17	42483311	42483311	+	Missense_Mutation	SNP	C	C	G			TCGA-FG-8191-01A-11D-2253-08	TCGA-FG-8191-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcc461af-d70d-4fca-ae7f-3f09367b6d51	6a19fe53-192d-492a-98ba-54d24a6f3574	g.chr17:42483311C>G	ENST00000434000.1	-	8	649	c.367G>C	c.(367-369)Gag>Cag	p.E123Q	GPATCH8_ENST00000591680.1_Missense_Mutation_p.E201Q			Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	201						intracellular	nucleic acid binding|zinc ion binding			breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		TTTCTTTGCTCTGCCAACTCA	0.368													10	63					0	0	1	0	0	G	42483311	C	G	42483311	3	3	208	1	0	0	0	0	1	0	0	0	6634	922	32	4	3915	4	GPATCH8	17	42483311	Missense_Mutation	SNP	C	TCGA-FG-8191-01A-11D-2253-08	23192910	42483311	38711899	26	25322											
PRKCA	5578	broad.mit.edu	37	17	64738870	64738870	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-8191-01A-11D-2253-08	TCGA-FG-8191-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcc461af-d70d-4fca-ae7f-3f09367b6d51	6a19fe53-192d-492a-98ba-54d24a6f3574	g.chr17:64738870G>A	ENST00000413366.3	+	13	1542	c.1516G>A	c.(1516-1518)Gcc>Acc	p.A506T		NM_002737.2	NP_002728	P17252	KPCA_HUMAN	protein kinase C, alpha	506	Protein kinase.				activation of phospholipase C activity|energy reserve metabolic process|induction of apoptosis by extracellular signals|intracellular signal transduction|mRNA metabolic process|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of blood vessel endothelial cell migration|regulation of insulin secretion|response to interleukin-1|synaptic transmission	cytosol|endoplasmic reticulum|membrane fraction|nucleoplasm|plasma membrane	ATP binding|enzyme binding|histone kinase activity (H3-T6 specific)|protein kinase C activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38			BRCA - Breast invasive adenocarcinoma(6;4.68e-09)		Phosphatidylserine(DB00144)|Vitamin E(DB00163)	AGATTATATCGCCCCAGAGGT	0.488													9	18					0	0	1	0	0	A	64738870	G	A	64738870	3	1	208	1	0	0	0	0	1	0	0	0	12559	1087	38	1	1566	1	PRKCA	17	64738870	Missense_Mutation	SNP	G	TCGA-FG-8191-01A-11D-2253-08	22255559	64738870	16456340	27	25323											
EXOC7	23265	broad.mit.edu	37	17	74084888	74084888	+	Silent	SNP	G	G	T			TCGA-FG-8191-01A-11D-2253-08	TCGA-FG-8191-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcc461af-d70d-4fca-ae7f-3f09367b6d51	6a19fe53-192d-492a-98ba-54d24a6f3574	g.chr17:74084888G>T	ENST00000607838.1	-	10	1327	c.1233C>A	c.(1231-1233)ctC>ctA	p.L411L	EXOC7_ENST00000411744.2_Silent_p.L380L|EXOC7_ENST00000467929.2_Silent_p.L347L|EXOC7_ENST00000405575.4_Silent_p.L411L|EXOC7_ENST00000589210.1_Silent_p.L388L|EXOC7_ENST00000332065.5_Silent_p.L357L|EXOC7_ENST00000335146.7_Silent_p.L439L	NM_001145297.2|NM_001145298.2|NM_001145299.2	NP_001138769.1|NP_001138770.1|NP_001138771.1	Q9UPT5	EXOC7_HUMAN	exocyst complex component 7	439					exocytosis|protein transport	centriolar satellite|cytosol|exocyst|plasma membrane	protein binding			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	14			LUSC - Lung squamous cell carcinoma(166;0.187)			TGGTCTGCTTGAGGTGTCGCA	0.612													4	115					1	1	1	1	0	T	74084888	G	T	74084888	2	4	208	1	0	0	0	0	0	0	0	1	5337	1277	45	5		5	EXOC7	17	74084888	Silent	SNP	G	TCGA-FG-8191-01A-11D-2253-08	9346018	74084888	7110322	28	25324											
KLHL14	57565	broad.mit.edu	37	18	30322013	30322013	+	Splice_Site	SNP	C	C	A			TCGA-FG-8191-01A-11D-2253-08	TCGA-FG-8191-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcc461af-d70d-4fca-ae7f-3f09367b6d51	6a19fe53-192d-492a-98ba-54d24a6f3574	g.chr18:30322013C>A	ENST00000359358.4	-	3	1386		c.e3-1		KLHL14_ENST00000358095.4_Splice_Site	NM_020805.1	NP_065856.1	Q9P2G3	KLH14_HUMAN	kelch-like family member 14							cytosol|endoplasmic reticulum membrane				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2)	31						AGAGCGAATTCTTCACCCAAA	0.433													9	58					0.000978159	0.00101892	1	1	0	A	30322013	C	A	30322013	5	1	208	1	0	0	0	0	0	0	1	0	8413	927	32	4	967	4	KLHL14	18	30322013	Splice_Site	SNP	C	TCGA-FG-8191-01A-11D-2253-08		30322013	47755235	29	25325											
PSG1	5669	broad.mit.edu	37	19	43382350	43382350	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-8191-01A-11D-2253-08	TCGA-FG-8191-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcc461af-d70d-4fca-ae7f-3f09367b6d51	6a19fe53-192d-492a-98ba-54d24a6f3574	g.chr19:43382350T>C	ENST00000244296.2	-	2	282	c.145A>G	c.(145-147)Aag>Gag	p.K49E	PSG1_ENST00000403380.3_Missense_Mutation_p.K49E|PSG1_ENST00000595124.1_Missense_Mutation_p.K49E|PSG1_ENST00000595356.1_Missense_Mutation_p.K49E|PSG1_ENST00000312439.6_Missense_Mutation_p.K49E|PSG1_ENST00000601073.1_5'UTR|PSG1_ENST00000436291.2_Missense_Mutation_p.K49E	NM_006905.2	NP_008836.2			pregnancy specific beta-1-glycoprotein 1											breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30		Prostate(69;0.00682)				AGAACATCCTTCCCCTCGGAA	0.473													35	264					0	0	1	0	0	C	43382350	T	C	43382350	3	2	208	1	0	0	0	0	1	0	0	0	12702	1792	62	3	1187	3	PSG1	19	43382350	Missense_Mutation	SNP	T	TCGA-FG-8191-01A-11D-2253-08		43382350	15746633	30	25326											
ZNF761	388561	broad.mit.edu	37	19	53958931	53958931	+	RNA	SNP	C	C	G			TCGA-FG-8191-01A-11D-2253-08	TCGA-FG-8191-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcc461af-d70d-4fca-ae7f-3f09367b6d51	6a19fe53-192d-492a-98ba-54d24a6f3574	g.chr19:53958931C>G	ENST00000454407.1	+	0	1623							Q86XN6	ZN761_HUMAN	zinc finger protein 761						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		GTGGCAAGACCTTTAGTCACA	0.408													12	140					0	0	1	0	0	G	53958931	C	G	53958931	1	3	208	0	1	0	0	0	0	0	0	0	18186	668	24	4		4	ZNF761	19	53958931	RNA	SNP	C	TCGA-FG-8191-01A-11D-2253-08	10576581	53958931	5170052	31	25327											
CHGB	1114	broad.mit.edu	37	20	5902992	5902992	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-8191-01A-11D-2253-08	TCGA-FG-8191-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcc461af-d70d-4fca-ae7f-3f09367b6d51	6a19fe53-192d-492a-98ba-54d24a6f3574	g.chr20:5902992G>A	ENST00000378961.4	+	4	406	c.202G>A	c.(202-204)Gtc>Atc	p.V68I		NM_001819.2	NP_001810.2	P05060	SCG1_HUMAN	chromogranin B (secretogranin 1)	68						extracellular region	hormone activity			breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						TAGAAAAGACGTCAAAGACAA	0.408													4	30					0	0	1	0	0	A	5902992	G	A	5902992	3	1	208	1	0	0	0	0	1	0	0	0	3361	1145	40	1	216	1	CHGB	20	5902992	Missense_Mutation	SNP	G	TCGA-FG-8191-01A-11D-2253-08		5902992	57122528	32	25328											
CDK16	5127	broad.mit.edu	37	X	47082981	47082981	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-8191-01A-11D-2253-08	TCGA-FG-8191-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcc461af-d70d-4fca-ae7f-3f09367b6d51	6a19fe53-192d-492a-98ba-54d24a6f3574	g.chrX:47082981C>T	ENST00000457458.2	+	2	463	c.43C>T	c.(43-45)Cgg>Tgg	p.R15W	CDK16_ENST00000276052.6_Missense_Mutation_p.R83W|CDK16_ENST00000518022.1_Missense_Mutation_p.R9W|CDK16_ENST00000357227.4_Missense_Mutation_p.R9W	NM_033018.3	NP_148978.2	Q00536	CDK16_HUMAN	cyclin-dependent kinase 16	9							ATP binding|cyclin-dependent protein kinase activity|protein binding			breast(1)|endometrium(3)|large_intestine(4)|lung(3)	11						GAAGATCAAACGGCAGCTGTC	0.532													3	24					0	0	1	0	0	T	47082981	C	T	47082981	3	4	208	1	0	0	0	0	1	0	0	0	3154	527	19	1	269	1	CDK16	23	47082981	Missense_Mutation	SNP	C	TCGA-FG-8191-01A-11D-2253-08		47082981	108187579	33	25329											
ATRX	546	broad.mit.edu	37	X	76909629	76909629	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FG-8191-01A-11D-2253-08	TCGA-FG-8191-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcc461af-d70d-4fca-ae7f-3f09367b6d51	6a19fe53-192d-492a-98ba-54d24a6f3574	g.chrX:76909629G>A	ENST00000373344.5	-	14	4490	c.4276C>T	c.(4276-4278)Cga>Tga	p.R1426*	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Nonsense_Mutation_p.R1388*	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1426					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.R1426*(1)|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)	TTAATACGTCGCCTTTTCTTT	0.328			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						33	12					0	0	1	0	0	A	76909629	G	A	76909629	4	1	208	1	0	0	0	0	0	1	0	0	1206	1095	38	1	3290	1	ATRX	23	76909629	Nonsense_Mutation	SNP	G	TCGA-FG-8191-01A-11D-2253-08	29826648	76909629	78360931	34	25330											
LDLRAP1	26119	broad.mit.edu	37	1	25881422	25881422	+	Missense_Mutation	SNP	C	C	A			TCGA-FG-A4MT-01A-11D-A26M-08	TCGA-FG-A4MT-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	651240cb-278a-4479-ac97-4de66ea9f10e	8c0d356e-7bf2-4c23-be12-acf5907f9be7	g.chr1:25881422C>A	ENST00000374338.4	+	3	422	c.303C>A	c.(301-303)gaC>gaA	p.D101E	LDLRAP1_ENST00000488127.1_3'UTR	NM_015627.2	NP_056442.2	Q5SW96	ARH_HUMAN	low density lipoprotein receptor adaptor protein 1	101	PID.				amyloid precursor protein metabolic process|cholesterol homeostasis|cholesterol metabolic process|positive regulation of receptor-mediated endocytosis|receptor internalization|receptor-mediated endocytosis of low-density lipoprotein particle involved in cholesterol transport|regulation of establishment of protein localization in plasma membrane|regulation of protein binding	basal plasma membrane|cytosol|early endosome|internal side of plasma membrane|neurofilament|recycling endosome	beta-amyloid binding|clathrin binding|low-density lipoprotein particle receptor binding|phosphatidylinositol-4,5-bisphosphate binding|phosphotyrosine binding|protein binding, bridging|protein complex binding|receptor signaling complex scaffold activity|signaling adaptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)|urinary_tract(1)	9		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.63e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000728)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000969)|GBM - Glioblastoma multiforme(114;0.00914)|READ - Rectum adenocarcinoma(331;0.0649)		TCCTGACAGACAACCTCACCA	0.557													3	24					0.00024832	0.000256883	1	1	0	A	25881422	C	A	25881422	3	1	209	1	0	0	0	0	1	0	0	0	8747	477	17	5	313	5	LDLRAP1	1	25881422	Missense_Mutation	SNP	C	TCGA-FG-A4MT-01A-11D-A26M-08		25881422	223369199	1	25331											
OR6F1	343169	broad.mit.edu	37	1	247875306	247875306	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FG-A4MT-01A-11D-A26M-08	TCGA-FG-A4MT-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	651240cb-278a-4479-ac97-4de66ea9f10e	8c0d356e-7bf2-4c23-be12-acf5907f9be7	g.chr1:247875306C>T	ENST00000302084.2	-	1	799	c.752G>A	c.(751-753)tGg>tAg	p.W251*	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005286.1	NP_001005286.1	Q8NGZ6	OR6F1_HUMAN	olfactory receptor, family 6, subfamily F, member 1	251					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47	all_cancers(71;3.24e-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)		OV - Ovarian serous cystadenocarcinoma(106;0.0168)			GGACCCATACCAAATGAGCAC	0.532													43	45					0	0	1	0	0	T	247875306	C	T	247875306	4	4	209	1	0	0	0	0	0	1	0	0	11248	595	21	2	178	2	OR6F1	1	247875306	Nonsense_Mutation	SNP	C	TCGA-FG-A4MT-01A-11D-A26M-08	221993884	247875306	1375315	2	25332											
TTN	7273	broad.mit.edu	37	2	179481731	179481731	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A4MT-01A-11D-A26M-08	TCGA-FG-A4MT-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	651240cb-278a-4479-ac97-4de66ea9f10e	8c0d356e-7bf2-4c23-be12-acf5907f9be7	g.chr2:179481731G>A	ENST00000589042.1	-	256	48109	c.47885C>T	c.(47884-47886)aCa>aTa	p.T15962I	TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.T6897I|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.T7022I|TTN_ENST00000342175.6_Missense_Mutation_p.T7089I|TTN_ENST00000591111.1_Missense_Mutation_p.T14321I|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|RP11-171I2.4_ENST00000605334.1_lincRNA|TTN_ENST00000342992.6_Missense_Mutation_p.T13394I	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	14321	Fibronectin type-III 16.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TAAATCCATTGTTGGTTCAAC	0.408													37	53					0	0	1	0	0	A	179481731	G	A	179481731	3	1	209	1	0	0	0	0	1	0	0	0	16797	1377	48	2	60236	2	TTN	2	179481731	Missense_Mutation	SNP	G	TCGA-FG-A4MT-01A-11D-A26M-08		179481731	63717642	3	25333											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-FG-A4MT-01A-11D-A26M-08	TCGA-FG-A4MT-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	651240cb-278a-4479-ac97-4de66ea9f10e	8c0d356e-7bf2-4c23-be12-acf5907f9be7	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								21	20					0	0	1	0	0	T	209113112	C	T	209113112	3	4	209	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-FG-A4MT-01A-11D-A26M-08	29631381	209113112	34086261	4	25334											
PTPRN	5798	broad.mit.edu	37	2	220173962	220173963	+	Frame_Shift_Ins	INS	-	-	C			TCGA-FG-A4MT-01A-11D-A26M-08	TCGA-FG-A4MT-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	651240cb-278a-4479-ac97-4de66ea9f10e	8c0d356e-7bf2-4c23-be12-acf5907f9be7	g.chr2:220173962_220173963insC	ENST00000295718.2	-	1	332_333	c.92_93insG	c.(91-93)ggcfs	p.G31fs	PTPRN_ENST00000409251.3_Frame_Shift_Ins_p.G31fs	NM_002846.3	NP_002837.1	Q16849	PTPRN_HUMAN	protein tyrosine phosphatase, receptor type, N	31					response to reactive oxygen species	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)		CGGCGCTGCAGCCCCCCGGGCG	0.738													2	4	---	---	---	---						C	220173963	-	C	220173962	7	5	209	1	0	1	1	0	0	0	0	0	12859	958	34	0	2938	0	PTPRN	2	220173962	Frame_Shift_Ins	INS	-	TCGA-FG-A4MT-01A-11D-A26M-08	11060850	220173962	23025411	5	25335											
MST1	4485	broad.mit.edu	37	3	49723596	49723596	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A4MT-01A-11D-A26M-08	TCGA-FG-A4MT-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	651240cb-278a-4479-ac97-4de66ea9f10e	8c0d356e-7bf2-4c23-be12-acf5907f9be7	g.chr3:49723596G>A	ENST00000449682.2	-	9	1407	c.1046C>T	c.(1045-1047)cCc>cTc	p.P349L	MST1_ENST00000383728.3_3'UTR	NM_020998.3	NP_066278.3	P26927	HGFL_HUMAN	macrophage stimulating 1 (hepatocyte growth factor-like)	335	Kringle 3.				proteolysis	extracellular region	serine-type endopeptidase activity	p.P335L(5)		NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2)	41				BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		TGAGCCGTCGGGGTTCCGGCA	0.667													3	33					0	0	1	0	0	A	49723596	G	A	49723596	3	1	209	1	0	0	0	0	1	0	0	0	9938	1232	43	2	1171	2	MST1	3	49723596	Missense_Mutation	SNP	G	TCGA-FG-A4MT-01A-11D-A26M-08		49723596	148298834	6	25336	122	2									
MST1	4485	broad.mit.edu	37	3	49723603	49723603	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A4MT-01A-11D-A26M-08	TCGA-FG-A4MT-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	651240cb-278a-4479-ac97-4de66ea9f10e	8c0d356e-7bf2-4c23-be12-acf5907f9be7	g.chr3:49723603G>A	ENST00000449682.2	-	9	1400	c.1039C>T	c.(1039-1041)Cgg>Tgg	p.R347W	MST1_ENST00000383728.3_3'UTR	NM_020998.3	NP_066278.3	P26927	HGFL_HUMAN	macrophage stimulating 1 (hepatocyte growth factor-like)	333	Kringle 3.				proteolysis	extracellular region	serine-type endopeptidase activity	p.R333W(5)		NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2)	41				BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		TCGGGGTTCCGGCAGAAGTTC	0.662													3	34					0	0	1	0	0	A	49723603	G	A	49723603	3	1	209	1	0	0	0	0	1	0	0	0	9938	1115	39	1	1178	1	MST1	3	49723603	Missense_Mutation	SNP	G	TCGA-FG-A4MT-01A-11D-A26M-08	7	49723603	148298827	7	25337	122	2									
INPP4B	8821	broad.mit.edu	37	4	143191848	143191848	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A4MT-01A-11D-A26M-08	TCGA-FG-A4MT-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	651240cb-278a-4479-ac97-4de66ea9f10e	8c0d356e-7bf2-4c23-be12-acf5907f9be7	g.chr4:143191848C>T	ENST00000513000.1	-	11	1016	c.583G>A	c.(583-585)Gac>Aac	p.D195N	INPP4B_ENST00000262992.4_Missense_Mutation_p.D195N|INPP4B_ENST00000509777.1_Missense_Mutation_p.D195N|INPP4B_ENST00000508116.1_Missense_Mutation_p.D195N|INPP4B_ENST00000308502.4_Missense_Mutation_p.D195N	NM_003866.2	NP_003857.2	O15327	INP4B_HUMAN	inositol polyphosphate-4-phosphatase, type II, 105kDa	195					signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(29)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58	all_hematologic(180;0.158)					GTGATGTGGTCGGCTTCCCCA	0.443													26	35					0	0	1	0	0	T	143191848	C	T	143191848	3	4	209	1	0	0	0	0	1	0	0	0	7797	884	31	1	2259	1	INPP4B	4	143191848	Missense_Mutation	SNP	C	TCGA-FG-A4MT-01A-11D-A26M-08		143191848	47962428	8	25338											
DSP	1832	broad.mit.edu	37	6	7580531	7580531	+	Missense_Mutation	SNP	A	A	T			TCGA-FG-A4MT-01A-11D-A26M-08	TCGA-FG-A4MT-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	651240cb-278a-4479-ac97-4de66ea9f10e	8c0d356e-7bf2-4c23-be12-acf5907f9be7	g.chr6:7580531A>T	ENST00000379802.3	+	23	4449	c.4108A>T	c.(4108-4110)Atc>Ttc	p.I1370F	DSP_ENST00000418664.2_Intron	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	1370	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		TGAGACCGAGATCAACATCAC	0.463													40	56					0	0	1	0	0	T	7580531	A	T	7580531	3	4	209	1	0	0	0	0	1	0	0	0	4807	333	12	4	4198	4	DSP	6	7580531	Missense_Mutation	SNP	A	TCGA-FG-A4MT-01A-11D-A26M-08		7580531	163534536	9	25339											
UBD	10537	broad.mit.edu	37	6	29523936	29523936	+	Silent	SNP	G	G	T			TCGA-FG-A4MT-01A-11D-A26M-08	TCGA-FG-A4MT-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	651240cb-278a-4479-ac97-4de66ea9f10e	8c0d356e-7bf2-4c23-be12-acf5907f9be7	g.chr6:29523936G>T	ENST00000377050.4	-	2	442	c.219C>A	c.(217-219)acC>acA	p.T73T	GABBR1_ENST00000355973.3_3'UTR	NM_006398.3	NP_006389.2	O15205	UBD_HUMAN	ubiquitin D	73	Ubiquitin 1.				aggresome assembly|myeloid dendritic cell differentiation|negative regulation of mitotic prometaphase|positive regulation of apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein ubiquitination|response to interferon-gamma|response to tumor necrosis factor|ubiquitin-dependent protein catabolic process	aggresome|cytoplasm|nucleus	proteasome binding			kidney(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6						TAAGGTGGATGGTCTTCTCTT	0.522													4	44					0.00909568	0.00909568	1	1	0	T	29523936	G	T	29523936	2	4	209	1	0	0	0	0	0	0	0	1	16904	1335	47	5		5	UBD	6	29523936	Silent	SNP	G	TCGA-FG-A4MT-01A-11D-A26M-08	21943405	29523936	141591131	10	25340											
TRRAP	8295	broad.mit.edu	37	7	98508848	98508848	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A4MT-01A-11D-A26M-08	TCGA-FG-A4MT-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	651240cb-278a-4479-ac97-4de66ea9f10e	8c0d356e-7bf2-4c23-be12-acf5907f9be7	g.chr7:98508848C>T	ENST00000359863.4	+	17	2170	c.1961C>T	c.(1960-1962)aCg>aTg	p.T654M	TRRAP_ENST00000446306.3_Missense_Mutation_p.T653M|TRRAP_ENST00000355540.3_Missense_Mutation_p.T654M	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	654					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TTCCAAACTACGGTCCCTTAT	0.368													7	22					0	0	1	0	0	T	98508848	C	T	98508848	3	4	209	1	0	0	0	0	1	0	0	0	16662	536	19	1	2023	1	TRRAP	7	98508848	Missense_Mutation	SNP	C	TCGA-FG-A4MT-01A-11D-A26M-08		98508848	60629815	11	25341											
ZNF503	84858	broad.mit.edu	37	10	77159074	77159074	+	Silent	SNP	C	C	T			TCGA-FG-A4MT-01A-11D-A26M-08	TCGA-FG-A4MT-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	651240cb-278a-4479-ac97-4de66ea9f10e	8c0d356e-7bf2-4c23-be12-acf5907f9be7	g.chr10:77159074C>T	ENST00000372524.4	-	2	1860	c.1374G>A	c.(1372-1374)gcG>gcA	p.A458A	ZNF503_ENST00000535216.1_Silent_p.A458A|RP11-399K21.11_ENST00000418818.2_lincRNA	NM_032772.4	NP_116161.2	Q96F45	ZN503_HUMAN	zinc finger protein 503	458	Ala-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			lung(4)|ovary(1)|skin(1)	6	all_cancers(46;0.105)|all_epithelial(25;0.00449)|Prostate(51;0.0112)|Ovarian(15;0.088)					GCGCCGCAGCCGCAGCAGCCG	0.701													9	8					0	0	1	0	0	T	77159074	C	T	77159074	2	4	209	1	0	0	0	0	0	0	0	1	18008	639	23	1		1	ZNF503	10	77159074	Silent	SNP	C	TCGA-FG-A4MT-01A-11D-A26M-08		77159074	58375673	12	25342											
PPRC1	23082	broad.mit.edu	37	10	103899573	103899573	+	Silent	SNP	G	G	A			TCGA-FG-A4MT-01A-11D-A26M-08	TCGA-FG-A4MT-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	651240cb-278a-4479-ac97-4de66ea9f10e	8c0d356e-7bf2-4c23-be12-acf5907f9be7	g.chr10:103899573G>A	ENST00000278070.2	+	5	1347	c.1308G>A	c.(1306-1308)ccG>ccA	p.P436P	PPRC1_ENST00000413464.2_Silent_p.P436P	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	436	Necessary for interaction with CREB1 and NRF1 and for transcriptional coactivation.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		TCGTGGAGCCGGTGGTGCCCA	0.577													11	69					0	0	1	0	0	A	103899573	G	A	103899573	2	1	209	1	0	0	0	0	0	0	0	1	12459	1103	39	1		1	PPRC1	10	103899573	Silent	SNP	G	TCGA-FG-A4MT-01A-11D-A26M-08	26740499	103899573	31635174	13	25343											
DUSP5	1847	broad.mit.edu	37	10	112269864	112269864	+	Missense_Mutation	SNP	A	A	G			TCGA-FG-A4MT-01A-11D-A26M-08	TCGA-FG-A4MT-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	651240cb-278a-4479-ac97-4de66ea9f10e	8c0d356e-7bf2-4c23-be12-acf5907f9be7	g.chr10:112269864A>G	ENST00000369583.3	+	4	1119	c.835A>G	c.(835-837)Atg>Gtg	p.M279V	DUSP5_ENST00000468749.1_3'UTR	NM_004419.3	NP_004410.3	Q16690	DUS5_HUMAN	dual specificity phosphatase 5	279	Tyrosine-protein phosphatase.				endoderm formation|inactivation of MAPK activity	nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			kidney(2)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	13		Breast(234;0.0848)		Epithelial(162;0.000276)|all cancers(201;0.00465)|BRCA - Breast invasive adenocarcinoma(275;0.12)		GGCTTACCTTATGAAGACCAA	0.552													29	41					0	0	1	0	0	G	112269864	A	G	112269864	3	3	209	1	0	0	0	0	1	0	0	0	4854	449	16	3	849	3	DUSP5	10	112269864	Missense_Mutation	SNP	A	TCGA-FG-A4MT-01A-11D-A26M-08	8370291	112269864	23264883	14	25344											
PACS1	55690	broad.mit.edu	37	11	65838059	65838061	+	In_Frame_Del	DEL	GCA	GCA	-	rs75352646		TCGA-FG-A4MT-01A-11D-A26M-08	TCGA-FG-A4MT-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	651240cb-278a-4479-ac97-4de66ea9f10e	8c0d356e-7bf2-4c23-be12-acf5907f9be7	g.chr11:65838059_65838061delGCA	ENST00000320580.4	+	1	135_137	c.102_104delGCA	c.(100-105)ccgcag>ccg	p.Q40del		NM_018026.3	NP_060496.2	Q6VY07	PACS1_HUMAN	phosphofurin acidic cluster sorting protein 1	40	Gly-rich.|Poly-Gln.				interspecies interaction between organisms|regulation of defense response to virus by virus|viral reproduction	cytosol	protein binding		RBM14/PACS1(2)	breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(8)|ovary(6)|skin(2)|urinary_tract(1)	37						agccgccgccgcagcagcagcag	0.793													2	4	---	---	---	---						-	65838061	GCA	-	65838059	7	5	209	1	0	1	0	1	0	0	0	0	11419	1074	38	0	104	0	PACS1	11	65838059	In_Frame_Del	DEL	GCA	TCGA-FG-A4MT-01A-11D-A26M-08		65838059	69168457	15	25345											
ADRBK1	156	broad.mit.edu	37	11	67050273	67050273	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A4MT-01A-11D-A26M-08	TCGA-FG-A4MT-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	651240cb-278a-4479-ac97-4de66ea9f10e	8c0d356e-7bf2-4c23-be12-acf5907f9be7	g.chr11:67050273G>A	ENST00000308595.5	+	14	1501	c.1211G>A	c.(1210-1212)cGc>cAc	p.R404H	ADRBK1_ENST00000526285.1_Intron|ADRBK1_ENST00000527176.1_3'UTR	NM_001619.3	NP_001610.2	P25098	ARBK1_HUMAN	adrenergic, beta, receptor kinase 1	404	Protein kinase.				activation of phospholipase C activity|cardiac muscle contraction|desensitization of G-protein coupled receptor protein signaling pathway|muscarinic acetylcholine receptor signaling pathway|negative regulation of striated muscle contraction|negative regulation of the force of heart contraction by chemical signal|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of catecholamine secretion|tachykinin receptor signaling pathway	cytosol|soluble fraction	alpha-2A adrenergic receptor binding|ATP binding|beta-adrenergic receptor kinase activity|Edg-2 lysophosphatidic acid receptor binding|G-protein coupled receptor kinase activity|signal transducer activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)	22			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		Adenosine triphosphate(DB00171)	GAGATCGACCGCATGACGCTG	0.602													3	26					0	0	1	0	0	A	67050273	G	A	67050273	3	1	209	1	0	0	0	0	1	0	0	0	342	1087	38	1	1265	1	ADRBK1	11	67050273	Missense_Mutation	SNP	G	TCGA-FG-A4MT-01A-11D-A26M-08	1212214	67050273	67956243	16	25346											
TP53	7157	broad.mit.edu	37	17	7578403	7578403	+	Missense_Mutation	SNP	C	C	A			TCGA-FG-A4MT-01A-11D-A26M-08	TCGA-FG-A4MT-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	651240cb-278a-4479-ac97-4de66ea9f10e	8c0d356e-7bf2-4c23-be12-acf5907f9be7	g.chr17:7578403C>A	ENST00000420246.2	-	5	659	c.527G>T	c.(526-528)tGc>tTc	p.C176F	TP53_ENST00000413465.2_Missense_Mutation_p.C176F|TP53_ENST00000455263.2_Missense_Mutation_p.C176F|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000269305.4_Missense_Mutation_p.C176F|TP53_ENST00000359597.4_Missense_Mutation_p.C176F|TP53_ENST00000445888.2_Missense_Mutation_p.C176F	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	176	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in sporadic cancers; somatic mutation).|CP -> FS (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.C176F(129)|p.C176Y(63)|p.C83F(9)|p.C44F(9)|p.C176S(8)|p.0?(8)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.C44Y(3)|p.C83Y(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.C176fs*65(1)|p.C176_P177delCP(1)|p.V173fs*69(1)|p.C176fs*68(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.C176del(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H178fs*3(1)|p.R174fs*3(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)		ATGGTGGGGGCAGCGCCTCAC	0.652		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)			25	37					2.79863e-10	3.10959e-10	1	1	0	A	7578403	C	A	7578403	3	1	209	1	0	0	0	0	1	0	0	0	16442	710	25	5	771	5	TP53	17	7578403	Missense_Mutation	SNP	C	TCGA-FG-A4MT-01A-11D-A26M-08		7578403	73616807	17	25347	123	2									
TP53	7157	broad.mit.edu	37	17	7578412	7578412	+	Missense_Mutation	SNP	A	A	G			TCGA-FG-A4MT-01A-11D-A26M-08	TCGA-FG-A4MT-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	651240cb-278a-4479-ac97-4de66ea9f10e	8c0d356e-7bf2-4c23-be12-acf5907f9be7	g.chr17:7578412A>G	ENST00000420246.2	-	5	650	c.518T>C	c.(517-519)gTg>gCg	p.V173A	TP53_ENST00000413465.2_Missense_Mutation_p.V173A|TP53_ENST00000455263.2_Missense_Mutation_p.V173A|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000269305.4_Missense_Mutation_p.V173A|TP53_ENST00000359597.4_Missense_Mutation_p.V173A|TP53_ENST00000445888.2_Missense_Mutation_p.V173A	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	173	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		V -> A (in sporadic cancers; somatic mutation).|V -> E (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).|V -> M (in LFS; germline mutation and in sporadic cancers; somatic mutation).|V -> W (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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.V173A(12)|p.0?(8)|p.V173G(6)|p.V173fs*7(3)|p.V173fs*59(2)|p.V157_C176del20(1)|p.V173E(1)|p.V41fs*7(1)|p.H168fs*69(1)|p.E171fs*1(1)|p.V172_R174delVVR(1)|p.P151_V173del23(1)|p.V173fs*69(1)|p.E171_H179delEVVRRCPHH(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.V173W(1)|p.S149fs*72(1)|p.V80fs*7(1)|p.V172_E180delVVRRCPHHE(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)		GCAGCGCCTCACAACCTCCGT	0.662		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)			30	31					0	0	1	0	0	G	7578412	A	G	7578412	3	3	209	1	0	0	0	0	1	0	0	0	16442	159	6	3	780	3	TP53	17	7578412	Missense_Mutation	SNP	A	TCGA-FG-A4MT-01A-11D-A26M-08	9	7578412	73616798	18	25348	123	2									
LAMA3	3909	broad.mit.edu	37	18	21426422	21426422	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A4MT-01A-11D-A26M-08	TCGA-FG-A4MT-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	651240cb-278a-4479-ac97-4de66ea9f10e	8c0d356e-7bf2-4c23-be12-acf5907f9be7	g.chr18:21426422G>A	ENST00000313654.9	+	31	4122	c.3881G>A	c.(3880-3882)cGg>cAg	p.R1294Q	LAMA3_ENST00000399516.3_Missense_Mutation_p.R1294Q	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	1294	Domain III B.|Laminin EGF-like 9.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GTCATCGGGCGGCAGTGCACC	0.652													14	26					0	0	1	0	0	A	21426422	G	A	21426422	3	1	209	1	0	0	0	0	1	0	0	0	8646	1116	39	1	4003	1	LAMA3	18	21426422	Missense_Mutation	SNP	G	TCGA-FG-A4MT-01A-11D-A26M-08		21426422	56650826	19	25349											
MUC16	94025	broad.mit.edu	37	19	9084692	9084692	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-A4MT-01A-11D-A26M-08	TCGA-FG-A4MT-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	651240cb-278a-4479-ac97-4de66ea9f10e	8c0d356e-7bf2-4c23-be12-acf5907f9be7	g.chr19:9084692T>C	ENST00000397910.4	-	1	7326	c.7123A>G	c.(7123-7125)Aac>Gac	p.N2375D		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2375	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ATGGAGGTGTTGATCAGATCA	0.438													8	25					0	0	1	0	0	C	9084692	T	C	9084692	3	2	209	1	0	0	0	0	1	0	0	0	10021	1812	63	3	36736	3	MUC16	19	9084692	Missense_Mutation	SNP	T	TCGA-FG-A4MT-01A-11D-A26M-08		9084692	50044291	20	25350											
MPPED1	758	broad.mit.edu	37	22	43870673	43870673	+	Missense_Mutation	SNP	A	A	G			TCGA-FG-A4MT-01A-11D-A26M-08	TCGA-FG-A4MT-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	651240cb-278a-4479-ac97-4de66ea9f10e	8c0d356e-7bf2-4c23-be12-acf5907f9be7	g.chr22:43870673A>G	ENST00000417669.2	+	4	908	c.464A>G	c.(463-465)gAc>gGc	p.D155G	MPPED1_ENST00000439548.1_5'UTR|MPPED1_ENST00000542779.1_Missense_Mutation_p.D155G|MPPED1_ENST00000443721.1_Missense_Mutation_p.D155G|MPPED1_ENST00000538182.1_Missense_Mutation_p.D188G|MPPED1_ENST00000414469.2_Missense_Mutation_p.D49G			O15442	MPPD1_HUMAN	metallophosphoesterase domain containing 1								hydrolase activity			endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|skin(1)	13		all_neural(38;0.0244)|Ovarian(80;0.0694)				CTGACCTTTGACCAGGAGTTC	0.552													45	86					0	0	1	0	0	G	43870673	A	G	43870673	3	3	209	1	0	0	0	0	1	0	0	0	9790	275	10	3	474	3	MPPED1	22	43870673	Missense_Mutation	SNP	A	TCGA-FG-A4MT-01A-11D-A26M-08		43870673	7433893	21	25351											
ATRX	546	broad.mit.edu	37	X	76855014	76855017	+	Frame_Shift_Del	DEL	CTAT	CTAT	-			TCGA-FG-A4MT-01A-11D-A26M-08	TCGA-FG-A4MT-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	651240cb-278a-4479-ac97-4de66ea9f10e	8c0d356e-7bf2-4c23-be12-acf5907f9be7	g.chrX:76855014_76855017delCTAT	ENST00000373344.5	-	25	6033_6036	c.5819_5822delATAG	c.(5818-5823)gatagtfs	p.DS1940fs	ATRX_ENST00000395603.3_Frame_Shift_Del_p.DS1902fs|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1940					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.D1940fs*14(1)|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)	ACTTGAGCTACTATCTTTTTTCCC	0.363			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						123	244	---	---	---	---						-	76855017	CTAT	-	76855014	7	5	209	1	0	1	0	1	0	0	0	0	1206	565	20	0	1700	0	ATRX	23	76855014	Frame_Shift_Del	DEL	CTAT	TCGA-FG-A4MT-01A-11D-A26M-08		76855014	78415546	22	25352											
SPANXD	64648	broad.mit.edu	37	X	140785682	140785682	+	Missense_Mutation	SNP	G	G	T			TCGA-FG-A4MT-01A-11D-A26M-08	TCGA-FG-A4MT-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	651240cb-278a-4479-ac97-4de66ea9f10e	8c0d356e-7bf2-4c23-be12-acf5907f9be7	g.chrX:140785682G>T	ENST00000370515.3	-	2	567	c.234C>A	c.(232-234)aaC>aaA	p.N78K		NM_032417.2|NM_145665.1	NP_115793.1|NP_663698.1			SPANX family, member D											breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	9	Acute lymphoblastic leukemia(192;7.65e-05)					TTTGGAGGGGGTTGATTCTGT	0.448													10	166					3.07112e-06	3.29048e-06	1	1	0	T	140785682	G	T	140785682	3	4	209	1	0	0	0	0	1	0	0	0	15044	1252	44	5	63	5	SPANXD	23	140785682	Missense_Mutation	SNP	G	TCGA-FG-A4MT-01A-11D-A26M-08	63930668	140785682	14484878	23	25353											
SPAG17	200162	broad.mit.edu	37	1	118516183	118516183	+	Splice_Site	SNP	T	T	C			TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr1:118516183T>C	ENST00000336338.5	-	44	6071	c.6006A>G	c.(6004-6006)gaA>gaG	p.E2002E	SPAG17_ENST00000492438.1_5'UTR	NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	2002						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		AAGATTCTGCTTCTGTTAGAG	0.378													43	43					0	0	1	0	0	C	118516183	T	C	118516183	5	2	210	1	0	0	0	0	0	0	1	0	15035	1623	56	3	685	3	SPAG17	1	118516183	Splice_Site	SNP	T	TCGA-FG-A4MU-01B-11D-A289-08		118516183	130734438	1	25354											
RUSC1	23623	broad.mit.edu	37	1	155296536	155296536	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr1:155296536C>T	ENST00000368352.5	+	8	2178	c.2027C>T	c.(2026-2028)cCt>cTt	p.P676L	RUSC1_ENST00000292254.4_Missense_Mutation_p.P207L|RUSC1_ENST00000368354.3_Intron|RUSC1_ENST00000368349.4_Missense_Mutation_p.P207L|RUSC1_ENST00000462780.1_3'UTR|RUSC1_ENST00000368347.4_Missense_Mutation_p.P266L	NM_001105203.1	NP_001098673.1	Q9BVN2	RUSC1_HUMAN	RUN and SH3 domain containing 1	676						cytoplasm|nucleolus	SH3/SH2 adaptor activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(2)|skin(1)|urinary_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;1.55e-10)|all cancers(21;4.15e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)			CTGGGCCCACCTCAGGCCCCT	0.657													69	99					0	0	1	0	0	T	155296536	C	T	155296536	3	4	210	1	0	0	0	0	1	0	0	0	13802	681	24	2	2184	2	RUSC1	1	155296536	Missense_Mutation	SNP	C	TCGA-FG-A4MU-01B-11D-A289-08	36780353	155296536	93954085	2	25355											
PCNXL2	80003	broad.mit.edu	37	1	233150466	233150466	+	Silent	SNP	G	G	A			TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr1:233150466G>A	ENST00000258229.9	-	28	5131	c.4897C>T	c.(4897-4899)Ctg>Ttg	p.L1633L	PCNXL2_ENST00000344698.2_Silent_p.L285L	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)							integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				AGGGTGCACAGGGCGAAGGAC	0.542													32	63					0	0	1	0	0	A	233150466	G	A	233150466	2	1	210	1	0	0	0	0	0	0	0	1	11639	991	35	2		2	PCNXL2	1	233150466	Silent	SNP	G	TCGA-FG-A4MU-01B-11D-A289-08	77853930	233150466	16100155	3	25356											
OR2T3	343173	broad.mit.edu	37	1	248637422	248637422	+	Silent	SNP	C	C	T			TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr1:248637422C>T	ENST00000359594.2	+	1	796	c.771C>T	c.(769-771)ttC>ttT	p.F257F		NM_001005495.1	NP_001005495.1	Q8NH03	OR2T3_HUMAN	olfactory receptor, family 2, subfamily T, member 3	257					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3)	31	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TGCTGCTCTTCGGTGCTTCCT	0.552													41	302					0	0	1	0	0	T	248637422	C	T	248637422	2	4	210	1	0	0	0	0	0	0	0	1	11071	883	31	1		1	OR2T3	1	248637422	Silent	SNP	C	TCGA-FG-A4MU-01B-11D-A289-08	15486956	248637422	613199	4	25357											
OR2T34	127068	broad.mit.edu	37	1	248737288	248737288	+	Silent	SNP	G	G	A			TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr1:248737288G>A	ENST00000328782.2	-	1	792	c.771C>T	c.(769-771)ttC>ttT	p.F257F		NM_001001821.1	NP_001001821.1	Q8NGX1	O2T34_HUMAN	olfactory receptor, family 2, subfamily T, member 34	257					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(6)|lung(28)|ovary(2)|skin(2)|stomach(3)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			AGGAAGCACCGAAGAGCAGCA	0.557													35	48					0	0	1	0	0	A	248737288	G	A	248737288	2	1	210	1	0	0	0	0	0	0	0	1	11073	1049	37	1		1	OR2T34	1	248737288	Silent	SNP	G	TCGA-FG-A4MU-01B-11D-A289-08	99866	248737288	513333	5	25358											
VRK2	7444	broad.mit.edu	37	2	58358955	58358955	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr2:58358955G>A	ENST00000435505.2	+	12	1434	c.689G>A	c.(688-690)cGa>cAa	p.R230Q	VRK2_ENST00000417641.2_Missense_Mutation_p.R230Q|VRK2_ENST00000340157.4_Missense_Mutation_p.R230Q|VRK2_ENST00000412104.2_Missense_Mutation_p.R230Q|VRK2_ENST00000440705.2_Missense_Mutation_p.R207Q			Q86Y07	VRK2_HUMAN	vaccinia related kinase 2	230	Protein kinase.					integral to membrane	ATP binding|protein binding|protein serine/threonine kinase activity			endometrium(4)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)	24						TTGTCCAGACGAAGTGACGTT	0.478													33	39					0	0	1	0	0	A	58358955	G	A	58358955	3	1	210	1	0	0	0	0	1	0	0	0	17280	1058	37	1	719	1	VRK2	2	58358955	Missense_Mutation	SNP	G	TCGA-FG-A4MU-01B-11D-A289-08		58358955	184840418	6	25359											
RANBP2	5903	broad.mit.edu	37	2	109400287	109400287	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr2:109400287T>C	ENST00000283195.6	+	29	9731	c.9605T>C	c.(9604-9606)aTt>aCt	p.I3202T		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	3202	PPIase cyclophilin-type.				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						GTGAAAAAGATTGAATCATTT	0.328													29	39					0	0	1	0	0	C	109400287	T	C	109400287	3	2	210	1	0	0	0	0	1	0	0	0	13080	1493	52	3	9719	3	RANBP2	2	109400287	Missense_Mutation	SNP	T	TCGA-FG-A4MU-01B-11D-A289-08	51041332	109400287	133799086	7	25360											
DPP10	57628	broad.mit.edu	37	2	116525951	116525951	+	Missense_Mutation	SNP	T	T	A			TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr2:116525951T>A	ENST00000410059.1	+	13	1672	c.1192T>A	c.(1192-1194)Ttt>Att	p.F398I	DPP10_ENST00000310323.8_Missense_Mutation_p.F391I|DPP10_ENST00000409163.1_Missense_Mutation_p.F348I|DPP10_ENST00000393147.2_Missense_Mutation_p.F402I	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	398					proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						ACGTGGAGAATTTCACCACGT	0.463													24	31					0	0	1	0	0	A	116525951	T	A	116525951	3	1	210	1	0	0	0	0	1	0	0	0	4753	1493	52	4	1413	4	DPP10	2	116525951	Missense_Mutation	SNP	T	TCGA-FG-A4MU-01B-11D-A289-08	7125664	116525951	126673422	8	25361											
CERKL	375298	broad.mit.edu	37	2	182468728	182468728	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr2:182468728C>T	ENST00000410087.3	-	2	417	c.317G>A	c.(316-318)cGt>cAt	p.R106H	CERKL_ENST00000479558.1_5'UTR|CERKL_ENST00000409440.3_Missense_Mutation_p.R106H|CERKL_ENST00000374969.2_Missense_Mutation_p.R106H|CERKL_ENST00000339098.5_Missense_Mutation_p.R106H|CERKL_ENST00000374970.2_Missense_Mutation_p.R106H	NM_001030311.2|NM_201548.4	NP_001025482.1|NP_963842.1	Q49MI3	CERKL_HUMAN	ceramide kinase-like	106			R -> S (in RP26).		activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis	endoplasmic reticulum|Golgi apparatus|nucleolus	diacylglycerol kinase activity	p.R106H(2)		NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(13)|ovary(3)|skin(3)	32			OV - Ovarian serous cystadenocarcinoma(117;0.088)			AACAGAACAACGCCGTTTCAG	0.313													7	17					0	0	1	0	0	T	182468728	C	T	182468728	3	4	210	1	0	0	0	0	1	0	0	0	3290	536	19	1	1411	1	CERKL	2	182468728	Missense_Mutation	SNP	C	TCGA-FG-A4MU-01B-11D-A289-08	65942777	182468728	60730645	9	25362											
CCDC108	255101	broad.mit.edu	37	2	219893020	219893020	+	Missense_Mutation	SNP	C	C	T	rs147414922		TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr2:219893020C>T	ENST00000341552.5	-	12	1837	c.1754G>A	c.(1753-1755)cGg>cAg	p.R585Q	CCDC108_ENST00000453220.1_Missense_Mutation_p.R585Q|CCDC108_ENST00000410037.1_Missense_Mutation_p.R520Q|CCDC108_ENST00000441968.1_Missense_Mutation_p.R585Q|CCDC108_ENST00000409865.3_Missense_Mutation_p.R574Q	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	585						integral to membrane	structural molecule activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CGTCAGGCCCCGGGCCAGGTG	0.617													65	76					0	0	1	0	0	T	219893020	C	T	219893020	3	4	210	1	0	0	0	0	1	0	0	0	2761	652	23	1	4119	1	CCDC108	2	219893020	Missense_Mutation	SNP	C	TCGA-FG-A4MU-01B-11D-A289-08	37424292	219893020	23306353	10	25363											
SP100	6672	broad.mit.edu	37	2	231331885	231331885	+	Missense_Mutation	SNP	G	G	A	rs144727058		TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr2:231331885G>A	ENST00000264052.5	+	13	1601	c.1246G>A	c.(1246-1248)Gca>Aca	p.A416T	SP100_ENST00000409824.1_Missense_Mutation_p.A391T|SP100_ENST00000427101.2_Missense_Mutation_p.A391T|SP100_ENST00000341950.4_Missense_Mutation_p.A416T|SP100_ENST00000409897.1_Missense_Mutation_p.A381T|SP100_ENST00000340126.4_Missense_Mutation_p.A416T|SP100_ENST00000409341.1_Missense_Mutation_p.A416T|SP100_ENST00000409112.1_Missense_Mutation_p.A416T	NM_003113.3	NP_003104.2	P23497	SP100_HUMAN	SP100 nuclear antigen	416					DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|interspecies interaction between organisms|negative regulation of cellular component movement|negative regulation of DNA binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of viral transcription|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to cytokine stimulus|response to retinoic acid|response to type I interferon	cytoplasm|nuclear periphery|nucleolus|PML body	chromo shadow domain binding|DNA binding|identical protein binding|kinase binding|protein homodimerization activity|transcription coactivator activity|transcription corepressor activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1)	25		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		GGAGGCGCCCGCAGAAGCCTC	0.527													87	104					0	0	1	0	0	A	231331885	G	A	231331885	3	1	210	1	0	0	0	0	1	0	0	0	15014	1087	38	1	1296	1	SP100	2	231331885	Missense_Mutation	SNP	G	TCGA-FG-A4MU-01B-11D-A289-08	11438865	231331885	11867488	11	25364											
UGT1A7	54577	broad.mit.edu	37	2	234590757	234590757	+	Silent	SNP	C	C	T			TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr2:234590757C>T	ENST00000373426.3	+	1	174	c.174C>T	c.(172-174)gtC>gtT	p.V58V	UGT1A1_ENST00000373450.4_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A1_ENST00000609637.1_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A10_ENST00000373445.1_Intron	NM_019077.2	NP_061950.2														NS(1)|endometrium(6)|kidney(5)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|prostate(1)|skin(1)	33		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;8.93e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000412)|Lung(119;0.00333)|LUSC - Lung squamous cell carcinoma(224;0.00746)		TGGTCGTAGTCATGCCAGAGG	0.547													70	84					0	0	1	0	0	T	234590757	C	T	234590757	2	4	210	1	0	0	0	0	0	0	0	1	17010	813	29	2		2	UGT1A7	2	234590757	Silent	SNP	C	TCGA-FG-A4MU-01B-11D-A289-08	3258872	234590757	8608616	12	25365											
LRRIQ4	344657	broad.mit.edu	37	3	169540471	169540471	+	Silent	SNP	C	C	T			TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr3:169540471C>T	ENST00000340806.6	+	1	762	c.762C>T	c.(760-762)gcC>gcT	p.A254A		NM_001080460.1	NP_001073929.1	A6NIV6	LRIQ4_HUMAN	leucine-rich repeats and IQ motif containing 4	254										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30						AGAGCTTCGCCGAGCTCAGGA	0.602													21	35					0	0	1	0	0	T	169540471	C	T	169540471	2	4	210	1	0	0	0	0	0	0	0	1	9076	639	23	1		1	LRRIQ4	3	169540471	Silent	SNP	C	TCGA-FG-A4MU-01B-11D-A289-08		169540471	28481959	13	25366											
FAM43A	131583	broad.mit.edu	37	3	194408803	194408803	+	Silent	SNP	T	T	C			TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr3:194408803T>C	ENST00000329759.4	+	1	2182	c.1248T>C	c.(1246-1248)agT>agC	p.S416S		NM_153690.4	NP_710157.2	Q8N2R8	FA43A_HUMAN	family with sequence similarity 43, member A	416										breast(2)|central_nervous_system(1)|lung(6)|skin(1)	10	all_cancers(143;2.04e-08)|Ovarian(172;0.0634)	Lung NSC(153;0.147)	OV - Ovarian serous cystadenocarcinoma(49;8.37e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;1.78e-05)		ACGGCGCCAGTGCAGACGAGC	0.751													7	6					0	0	1	0	0	C	194408803	T	C	194408803	2	2	210	1	0	0	0	0	0	0	0	1	5598	1693	59	3		3	FAM43A	3	194408803	Silent	SNP	T	TCGA-FG-A4MU-01B-11D-A289-08	24868332	194408803	3613627	14	25367											
C9	735	broad.mit.edu	37	5	39364519	39364519	+	Silent	SNP	T	T	A			TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr5:39364519T>A	ENST00000263408.4	-	1	143	c.48A>T	c.(46-48)atA>atT	p.I16I	C9_ENST00000509186.1_Intron	NM_001737.3	NP_001728.1	P02748	CO9_HUMAN	complement component 9	16					complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes	extracellular region|membrane attack complex				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	Epithelial(62;0.158)			TGAGGATGCTTATTTCTAAAA	0.512													7	18					0	0	1	0	0	A	39364519	T	A	39364519	2	1	210	1	0	0	0	0	0	0	0	1	2461	1744	61	5		5	C9	5	39364519	Silent	SNP	T	TCGA-FG-A4MU-01B-11D-A289-08		39364519	141550741	15	25368											
VCAN	1462	broad.mit.edu	37	5	82816827	82816827	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr5:82816827C>T	ENST00000265077.3	+	7	3267	c.2702C>T	c.(2701-2703)aCa>aTa	p.T901I	VCAN_ENST00000512590.2_Missense_Mutation_p.T853I|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000342785.4_Missense_Mutation_p.T901I|VCAN_ENST00000343200.5_Intron	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	901	GAG-alpha (glucosaminoglycan attachment domain).				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		AGAGATTCTACAACTGAAGAA	0.408													67	64					0	0	1	0	0	T	82816827	C	T	82816827	3	4	210	1	0	0	0	0	1	0	0	0	17198	478	17	2	2724	2	VCAN	5	82816827	Missense_Mutation	SNP	C	TCGA-FG-A4MU-01B-11D-A289-08	43452308	82816827	98098433	16	25369											
GPR98	84059	broad.mit.edu	37	5	89933730	89933730	+	Silent	SNP	G	G	A			TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr5:89933730G>A	ENST00000405460.2	+	11	2301	c.2205G>A	c.(2203-2205)ccG>ccA	p.P735P		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	735	Calx-beta 5.				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		ATGACATACCGGAAATGAATG	0.353													23	33					0	0	1	0	0	A	89933730	G	A	89933730	2	1	210	1	0	0	0	0	0	0	0	1	6762	1103	39	1		1	GPR98	5	89933730	Silent	SNP	G	TCGA-FG-A4MU-01B-11D-A289-08	7116903	89933730	90981530	17	25370											
FBN2	2201	broad.mit.edu	37	5	127800539	127800539	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr5:127800539G>A	ENST00000508053.1	-	12	1678	c.704C>T	c.(703-705)aCg>aTg	p.T235M	FBN2_ENST00000508989.1_Missense_Mutation_p.T202M|FBN2_ENST00000262464.4_Missense_Mutation_p.T235M			P35556	FBN2_HUMAN	fibrillin 2	235	TB 1.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		CAGAGTCTTCGTGCAGACAAT	0.577													37	59					0	0	1	0	0	A	127800539	G	A	127800539	3	1	210	1	0	0	0	0	1	0	0	0	5736	1145	40	1	8274	1	FBN2	5	127800539	Missense_Mutation	SNP	G	TCGA-FG-A4MU-01B-11D-A289-08	37866809	127800539	53114721	18	25371											
GRM4	2914	broad.mit.edu	37	6	34004320	34004320	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr6:34004320G>A	ENST00000538487.2	-	9	2010	c.1567C>T	c.(1567-1569)Ccc>Tcc	p.P523S	GRM4_ENST00000535756.1_Missense_Mutation_p.P390S|GRM4_ENST00000609222.1_Missense_Mutation_p.P390S|GRM4_ENST00000374181.4_Missense_Mutation_p.P523S|GRM4_ENST00000544773.2_Missense_Mutation_p.P354S|GRM4_ENST00000455714.2_Missense_Mutation_p.P383S|GRM4_ENST00000545715.1_5'UTR|GRM4_ENST00000374177.3_Missense_Mutation_p.P407S	NM_000841.2|NM_001256811.1	NP_000832.1|NP_001243740.1	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4						activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48					L-Glutamic Acid(DB00142)	GGTTGGCAGGGCAGGCTGCAG	0.632													35	36					0	0	1	0	0	A	34004320	G	A	34004320	3	1	210	1	0	0	0	0	1	0	0	0	6840	1203	42	2	1183	2	GRM4	6	34004320	Missense_Mutation	SNP	G	TCGA-FG-A4MU-01B-11D-A289-08		34004320	137110747	19	25372											
FGD2	221472	broad.mit.edu	37	6	36979617	36979617	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr6:36979617C>T	ENST00000274963.8	+	4	685	c.514C>T	c.(514-516)Cgc>Tgc	p.R172C		NM_173558.3	NP_775829.2	Q7Z6J4	FGD2_HUMAN	FYVE, RhoGEF and PH domain containing 2	172	DH.				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|early endosome membrane|Golgi apparatus|lamellipodium|nucleus|ruffle membrane	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	25						GCTGCAGCGGCGCCTGGACGA	0.617													23	32					0	0	1	0	0	T	36979617	C	T	36979617	3	4	210	1	0	0	0	0	1	0	0	0	5866	768	27	1	528	1	FGD2	6	36979617	Missense_Mutation	SNP	C	TCGA-FG-A4MU-01B-11D-A289-08	2975297	36979617	134135450	20	25373											
COL9A1	1297	broad.mit.edu	37	6	70972973	70972973	+	Missense_Mutation	SNP	C	C	T	rs148011193		TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr6:70972973C>T	ENST00000357250.6	-	19	1527	c.1369G>A	c.(1369-1371)Gga>Aga	p.G457R	COL9A1_ENST00000489611.1_5'UTR|COL9A1_ENST00000370499.4_Missense_Mutation_p.G214R|COL9A1_ENST00000320755.7_Missense_Mutation_p.G214R	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1	457	Triple-helical region (COL2).				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						CCAACTTCTCCGAGTTCTCCC	0.323													6	13					0	0	1	0	0	T	70972973	C	T	70972973	3	4	210	1	0	0	0	0	1	0	0	0	3730	661	23	1	1476	1	COL9A1	6	70972973	Missense_Mutation	SNP	C	TCGA-FG-A4MU-01B-11D-A289-08	33993356	70972973	100142094	21	25374											
SMAP1	60682	broad.mit.edu	37	6	71501425	71501425	+	Missense_Mutation	SNP	G	G	T			TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr6:71501425G>T	ENST00000370455.3	+	5	696	c.448G>T	c.(448-450)Gta>Tta	p.V150L	SMAP1_ENST00000316999.5_Intron|SMAP1_ENST00000370452.3_Intron	NM_001044305.1|NM_001281440.1	NP_001037770.1|NP_001268369.1	Q8IYB5	SMAP1_HUMAN	small ArfGAP 1	150					regulation of ARF GTPase activity	plasma membrane	ARF GTPase activator activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(1)	15						TCAGCCTTTGGTATCCTCTCC	0.393													46	59					7.77372e-23	8.62694e-23	1	1	0	T	71501425	G	T	71501425	3	4	210	1	0	0	0	0	1	0	0	0	14820	1261	44	5	466	5	SMAP1	6	71501425	Missense_Mutation	SNP	G	TCGA-FG-A4MU-01B-11D-A289-08	528452	71501425	99613642	22	25375											
KIAA1244	57221	broad.mit.edu	37	6	138575103	138575103	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr6:138575103G>A	ENST00000251691.4	+	9	918	c.752G>A	c.(751-753)cGc>cAc	p.R251H		NM_020340.4	NP_065073.3	Q5TH69	BIG3_HUMAN	KIAA1244	251					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		CTGCACAGGCGCTTCACGGAC	0.612													5	9					0	0	1	0	0	A	138575103	G	A	138575103	3	1	210	1	0	0	0	0	1	0	0	0	8259	1087	38	1	786	1	KIAA1244	6	138575103	Missense_Mutation	SNP	G	TCGA-FG-A4MU-01B-11D-A289-08	67073678	138575103	32539964	23	25376											
HOXA6	3203	broad.mit.edu	37	7	27187208	27187208	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr7:27187208G>T	ENST00000222728.3	-	1	185	c.161C>A	c.(160-162)tCa>tAa	p.S54*	HOXA-AS3_ENST00000518947.2_RNA|HOXA-AS3_ENST00000521231.1_RNA|RP1-170O19.23_ENST00000498652.1_RNA|RP1-170O19.22_ENST00000467897.2_RNA|HOXA-AS3_ENST00000521197.1_RNA|HOXA6_ENST00000521478.1_Intron|HOXA-AS3_ENST00000518848.1_RNA	NM_024014.3	NP_076919.1	P31267	HXA6_HUMAN	homeobox A6	54						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(5)|lung(3)|ovary(1)	10						GAAACAAGGTGAGGTGTACGT	0.612													34	92					9.65963e-10	9.98894e-10	1	1	0	T	27187208	G	T	27187208	4	4	210	1	0	0	0	0	0	1	0	0	7337	1294	45	5	548	5	HOXA6	7	27187208	Nonsense_Mutation	SNP	G	TCGA-FG-A4MU-01B-11D-A289-08		27187208	131951455	24	25377											
EGFR	1956	broad.mit.edu	37	7	55233043	55233043	+	Missense_Mutation	SNP	G	G	T	rs139236063		TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr7:55233043G>T	ENST00000275493.2	+	15	1970	c.1793G>T	c.(1792-1794)gGa>gTa	p.G598V	EGFR_ENST00000442591.1_Missense_Mutation_p.G598V|EGFR_ENST00000344576.2_Missense_Mutation_p.G598V|EGFR_ENST00000454757.2_Missense_Mutation_p.G545V|EGFR_ENST00000455089.1_Missense_Mutation_p.G553V|EGFR_ENST00000342916.3_Missense_Mutation_p.G598V	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	598					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.G598V(15)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	TGCCCGGCAGGAGTCATGGGA	0.567		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			5079	207					0	0	1	1	0	T	55233043	G	T	55233043	3	4	210	1	0	0	0	0	1	0	0	0	4993	1174	41	5	1862	5	EGFR	7	55233043	Missense_Mutation	SNP	G	TCGA-FG-A4MU-01B-11D-A289-08	28045835	55233043	103905620	25	25378											
PCLO	27445	broad.mit.edu	37	7	82582077	82582077	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr7:82582077C>T	ENST00000333891.9	-	5	8529	c.8192G>A	c.(8191-8193)cGt>cAt	p.R2731H	PCLO_ENST00000423517.2_Missense_Mutation_p.R2731H	NM_033026.5	NP_149015.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein						cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TGGTACTGTACGCAAATCAAT	0.353													9	21					0	0	1	0	0	T	82582077	C	T	82582077	3	4	210	1	0	0	0	0	1	0	0	0	11630	536	19	1	7337	1	PCLO	7	82582077	Missense_Mutation	SNP	C	TCGA-FG-A4MU-01B-11D-A289-08	27349034	82582077	76556586	26	25379											
TECPR1	25851	broad.mit.edu	37	7	97874267	97874267	+	Missense_Mutation	SNP	G	G	C			TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr7:97874267G>C	ENST00000447648.2	-	4	637	c.338C>G	c.(337-339)tCg>tGg	p.S113W	TECPR1_ENST00000379795.3_Missense_Mutation_p.S113W|TECPR1_ENST00000542604.1_Missense_Mutation_p.S34W			Q7Z6L1	TCPR1_HUMAN	tectonin beta-propeller repeat containing 1	113						integral to membrane	protein binding			central_nervous_system(2)|endometrium(8)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						CCAGTGCGGCGAGGGCAGTGC	0.617													10	45					0	0	1	0	0	C	97874267	G	C	97874267	3	2	210	1	0	0	0	0	1	0	0	0	15802	1059	37	5	3251	5	TECPR1	7	97874267	Missense_Mutation	SNP	G	TCGA-FG-A4MU-01B-11D-A289-08	15292190	97874267	61264396	27	25380											
GAL3ST4	79690	broad.mit.edu	37	7	99758141	99758141	+	Missense_Mutation	SNP	G	G	T			TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr7:99758141G>T	ENST00000360039.4	-	4	1263	c.871C>A	c.(871-873)Ctg>Atg	p.L291M	GAL3ST4_ENST00000413800.1_Missense_Mutation_p.L291M|GAL3ST4_ENST00000426974.2_Missense_Mutation_p.L229M|GAL3ST4_ENST00000411994.1_Silent_p.V189V|GAL3ST4_ENST00000423751.1_Silent_p.V189V	NM_024637.4	NP_078913.3	Q96RP7	G3ST4_HUMAN	galactose-3-O-sulfotransferase 4	291					cell-cell signaling|oligosaccharide metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi cisterna membrane|integral to membrane|membrane fraction	3'-phosphoadenosine 5'-phosphosulfate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(5)|prostate(1)|upper_aerodigestive_tract(1)	26	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					AGCCATGCCAGACCCCACTGG	0.527													64	171					1.35869e-18	1.48964e-18	1	1	0	T	99758141	G	T	99758141	3	4	210	1	0	0	0	0	1	0	0	0	6240	933	33	4	593	4	GAL3ST4	7	99758141	Missense_Mutation	SNP	G	TCGA-FG-A4MU-01B-11D-A289-08	1883874	99758141	59380522	28	25381											
RELN	5649	broad.mit.edu	37	7	103163890	103163890	+	Missense_Mutation	SNP	C	C	T	rs150236371	byFrequency	TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr7:103163890C>T	ENST00000428762.1	-	47	7597	c.7438G>A	c.(7438-7440)Ggc>Agc	p.G2480S	RELN_ENST00000343529.5_Missense_Mutation_p.G2480S|RELN_ENST00000424685.2_Missense_Mutation_p.G2480S	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	2480	EGF-like 6.				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		TCTATGCAGCCATCCCCGATA	0.473													61	150					0	0	1	0	0	T	103163890	C	T	103163890	3	4	210	1	0	0	0	0	1	0	0	0	13272	594	21	2	3020	2	RELN	7	103163890	Missense_Mutation	SNP	C	TCGA-FG-A4MU-01B-11D-A289-08	3405749	103163890	55974773	29	25382											
NUDT18	79873	broad.mit.edu	37	8	21965732	21965732	+	Silent	SNP	C	C	T			TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr8:21965732C>T	ENST00000309188.6	-	4	406	c.288G>A	c.(286-288)gcG>gcA	p.A96A	NUDT18_ENST00000522405.1_Silent_p.A19A|NUDT18_ENST00000521807.2_3'UTR	NM_024815.3	NP_079091.3	Q6ZVK8	NUD18_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 18	96	Nudix hydrolase.						hydrolase activity|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|lung(2)	4				Colorectal(74;0.00185)|COAD - Colon adenocarcinoma(73;0.0608)|READ - Rectum adenocarcinoma(5;0.0986)		AGTGCAGCCCCGCCTCCTCCT	0.697													3	11					0	0	1	0	0	T	21965732	C	T	21965732	2	4	210	1	0	0	0	0	0	0	0	1	10783	639	23	1		1	NUDT18	8	21965732	Silent	SNP	C	TCGA-FG-A4MU-01B-11D-A289-08		21965732	124398290	30	25383											
SOX17	64321	broad.mit.edu	37	8	55370802	55370802	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr8:55370802C>A	ENST00000297316.4	+	1	308	c.104C>A	c.(103-105)tCg>tAg	p.S35*		NM_022454.3	NP_071899.1	Q9H6I2	SOX17_HUMAN	SRY (sex determining region Y)-box 17	35					angiogenesis|cardiac cell fate determination|endocardial cell differentiation|endocardium formation|endoderm formation|heart formation|heart looping|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|outflow tract morphogenesis|positive regulation of transcription, DNA-dependent|protein destabilization|protein stabilization|regulation of embryonic development|renal system development|vasculogenesis|Wnt receptor signaling pathway	transcription factor complex	beta-catenin binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription factor binding|transcription regulatory region DNA binding			endometrium(6)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)	18		Lung NSC(129;0.109)|all_epithelial(80;0.176)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;1.9e-07)|Epithelial(17;1.7e-05)|all cancers(17;0.000159)			TGGGCCGAGTCGCTGAGCCCC	0.741													9	14					5.4927e-09	5.61613e-09	1	1	0	A	55370802	C	A	55370802	4	1	210	1	0	0	0	0	0	1	0	0	15001	893	31	5	106	5	SOX17	8	55370802	Nonsense_Mutation	SNP	C	TCGA-FG-A4MU-01B-11D-A289-08	33405070	55370802	90993220	31	25384	124	2									
SOX17	64321	broad.mit.edu	37	8	55370804	55370804	+	Silent	SNP	C	C	T			TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr8:55370804C>T	ENST00000297316.4	+	1	310	c.106C>T	c.(106-108)Ctg>Ttg	p.L36L		NM_022454.3	NP_071899.1	Q9H6I2	SOX17_HUMAN	SRY (sex determining region Y)-box 17	36					angiogenesis|cardiac cell fate determination|endocardial cell differentiation|endocardium formation|endoderm formation|heart formation|heart looping|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|outflow tract morphogenesis|positive regulation of transcription, DNA-dependent|protein destabilization|protein stabilization|regulation of embryonic development|renal system development|vasculogenesis|Wnt receptor signaling pathway	transcription factor complex	beta-catenin binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription factor binding|transcription regulatory region DNA binding			endometrium(6)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)	18		Lung NSC(129;0.109)|all_epithelial(80;0.176)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;1.9e-07)|Epithelial(17;1.7e-05)|all cancers(17;0.000159)			GGCCGAGTCGCTGAGCCCCAT	0.746													9	17					0	0	1	0	0	T	55370804	C	T	55370804	2	4	210	1	0	0	0	0	0	0	0	1	15001	796	28	2		2	SOX17	8	55370804	Silent	SNP	C	TCGA-FG-A4MU-01B-11D-A289-08	2	55370804	90993218	32	25385	124	2									
RP1	6101	broad.mit.edu	37	8	55538939	55538939	+	Missense_Mutation	SNP	T	T	A			TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr8:55538939T>A	ENST00000220676.1	+	4	2645	c.2497T>A	c.(2497-2499)Ttt>Att	p.F833I		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	833					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			ACCCAAAGATTTTTATGCACC	0.323													12	20					0	0	1	0	0	A	55538939	T	A	55538939	3	1	210	1	0	0	0	0	1	0	0	0	13584	1841	64	5	2507	5	RP1	8	55538939	Missense_Mutation	SNP	T	TCGA-FG-A4MU-01B-11D-A289-08	168135	55538939	90825083	33	25386											
GDF6	392255	broad.mit.edu	37	8	97156959	97156959	+	Silent	SNP	G	G	A			TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr8:97156959G>A	ENST00000287020.5	-	2	1299	c.1200C>T	c.(1198-1200)caC>caT	p.H400H		NM_001001557.2	NP_001001557.1	Q6KF10	GDF6_HUMAN	growth differentiation factor 6	400					activin receptor signaling pathway|BMP signaling pathway|growth|pathway-restricted SMAD protein phosphorylation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			breast(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	27	Breast(36;2.67e-05)					GGATGATGGCGTGGTTGGTGG	0.617													3	45					0	0	1	0	0	A	97156959	G	A	97156959	2	1	210	1	0	0	0	0	0	0	0	1	6359	1136	40	1		1	GDF6	8	97156959	Silent	SNP	G	TCGA-FG-A4MU-01B-11D-A289-08	41618020	97156959	49207063	34	25387											
COL22A1	169044	broad.mit.edu	37	8	139890331	139890331	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr8:139890331C>T	ENST00000303045.6	-	3	766	c.320G>A	c.(319-321)cGt>cAt	p.R107H	COL22A1_ENST00000435777.1_Missense_Mutation_p.R107H	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	107	VWFA.				cell adhesion	collagen|cytoplasm	structural molecule activity	p.R107H(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			GTAGGCGAGACGCCGGGCAGC	0.721										HNSCC(7;0.00092)			5	6					0	0	1	0	0	T	139890331	C	T	139890331	3	4	210	1	0	0	0	0	1	0	0	0	3704	536	19	1	4812	1	COL22A1	8	139890331	Missense_Mutation	SNP	C	TCGA-FG-A4MU-01B-11D-A289-08	42733372	139890331	6473691	35	25388											
PLEC	5339	broad.mit.edu	37	8	144995970	144995970	+	Silent	SNP	C	C	T			TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr8:144995970C>T	ENST00000322810.4	-	32	8599	c.8430G>A	c.(8428-8430)gcG>gcA	p.A2810A	PLEC_ENST00000354958.2_Silent_p.A2651A|PLEC_ENST00000527096.1_Silent_p.A2696A|PLEC_ENST00000436759.2_Silent_p.A2700A|PLEC_ENST00000354589.3_Silent_p.A2673A|PLEC_ENST00000356346.3_Silent_p.A2659A|PLEC_ENST00000398774.2_Silent_p.A2641A|PLEC_ENST00000345136.3_Silent_p.A2673A|PLEC_ENST00000357649.2_Silent_p.A2677A	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2810	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						TGTGGCCCTGCGCCAACCGCT	0.682													42	37					0	0	1	0	0	T	144995970	C	T	144995970	2	4	210	1	0	0	0	0	0	0	0	1	12100	755	27	1		1	PLEC	8	144995970	Silent	SNP	C	TCGA-FG-A4MU-01B-11D-A289-08	5105639	144995970	1368052	36	25389											
SUSD3	203328	broad.mit.edu	37	9	95838087	95838087	+	Frame_Shift_Del	DEL	T	T	-			TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr9:95838087delT	ENST00000375472.3	+	2	146	c.110delT	c.(109-111)ctafs	p.L37fs	SUSD3_ENST00000375469.1_Frame_Shift_Del_p.L24fs	NM_145006.2	NP_659443.1	Q96L08	SUSD3_HUMAN	sushi domain containing 3	37	Sushi.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(2)	13						AAGCTGCGGCTACCCCCGCAA	0.677													23	54	---	---	---	---						-	95838087	T	-	95838087	7	5	210	1	0	1	0	1	0	0	0	0	15465	1522	53	0	116	0	SUSD3	9	95838087	Frame_Shift_Del	DEL	T	TCGA-FG-A4MU-01B-11D-A289-08		95838087	45375344	37	25390											
COL5A1	1289	broad.mit.edu	37	9	137701113	137701113	+	Missense_Mutation	SNP	C	C	A			TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr9:137701113C>A	ENST00000371817.3	+	43	3865	c.3451C>A	c.(3451-3453)Ccc>Acc	p.P1151T		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	1151	Triple-helical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CCCTGTGGGTCCCCCTGGAGA	0.632													4	8					0.00909568	0.00909568	1	1	0	A	137701113	C	A	137701113	3	1	210	1	0	0	0	0	1	0	0	0	3719	855	30	5	3621	5	COL5A1	9	137701113	Missense_Mutation	SNP	C	TCGA-FG-A4MU-01B-11D-A289-08	41863026	137701113	3512318	38	25391											
MUC2	4583	broad.mit.edu	37	11	1102176	1102176	+	Silent	SNP	C	C	T			TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr11:1102176C>T	ENST00000441003.2	+	44	7839	c.7812C>T	c.(7810-7812)caC>caT	p.H2604H		NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	4966						inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	CCTGCACCCACGTGCCCTGCA	0.617													42	46					0	0	1	0	0	T	1102176	C	T	1102176	2	4	210	1	0	0	0	0	0	0	0	1	10023	535	19	1		1	MUC2	11	1102176	Silent	SNP	C	TCGA-FG-A4MU-01B-11D-A289-08		1102176	133904340	39	25392											
TOLLIP	54472	broad.mit.edu	37	11	1298448	1298448	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr11:1298448C>T	ENST00000527886.1	-	6	819	c.439G>A	c.(439-441)Gtg>Atg	p.V147M	TOLLIP_ENST00000263646.7_Missense_Mutation_p.V188M|TOLLIP_ENST00000317204.6_Missense_Mutation_p.V216M|TOLLIP_ENST00000525159.1_Missense_Mutation_p.V155M|TOLLIP_ENST00000542915.1_Missense_Mutation_p.V166M|TOLLIP_ENST00000527938.1_Silent_p.P73P			Q9H0E2	TOLIP_HUMAN	toll interacting protein	216					cell-cell signaling|inflammatory response|innate immune response|intracellular signal transduction|leukocyte activation|phosphorylation	cytosol|interleukin-1 receptor complex|interleukin-18 receptor complex	kinase binding|signal transducer activity|Toll-like receptor binding			large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	6		all_cancers(49;7.62e-05)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.00152)|Lung(200;0.09)|LUSC - Lung squamous cell carcinoma(625;0.107)		GGCAGGGCCACGGGCACCATG	0.607													53	47					0	0	1	0	0	T	1298448	C	T	1298448	3	4	210	1	0	0	0	0	1	0	0	0	16410	536	19	1	182	1	TOLLIP	11	1298448	Missense_Mutation	SNP	C	TCGA-FG-A4MU-01B-11D-A289-08	196272	1298448	133708068	40	25393											
UBQLN3	50613	broad.mit.edu	37	11	5529965	5529965	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr11:5529965C>T	ENST00000311659.4	-	2	971	c.824G>A	c.(823-825)gGc>gAc	p.G275D	HBG2_ENST00000380259.2_Intron	NM_017481.2	NP_059509.1	Q9H347	UBQL3_HUMAN	ubiquilin 3	275										NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AAAGGGATTGCCGCCAAACTG	0.512													4	182					0	0	1	0	0	T	5529965	C	T	5529965	3	4	210	1	0	0	0	0	1	0	0	0	16959	739	26	2	1147	2	UBQLN3	11	5529965	Missense_Mutation	SNP	C	TCGA-FG-A4MU-01B-11D-A289-08	4231517	5529965	129476551	41	25394											
ZNF215	7762	broad.mit.edu	37	11	6953559	6953559	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr11:6953559G>A	ENST00000278319.5	+	3	644	c.56G>A	c.(55-57)cGt>cAt	p.R19H	ZNF215_ENST00000529903.1_Missense_Mutation_p.R19H|ZNF215_ENST00000414517.2_Missense_Mutation_p.R19H|ZNF215_ENST00000527171.1_3'UTR	NM_013250.2	NP_037382.2	Q9UL58	ZN215_HUMAN	zinc finger protein 215	19					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(4)	32				Epithelial(150;6.33e-08)|BRCA - Breast invasive adenocarcinoma(625;0.134)		CTGTCTCTACGTGAACAAAGA	0.473													48	57					0	0	1	0	0	A	6953559	G	A	6953559	3	1	210	1	0	0	0	0	1	0	0	0	17829	1145	40	1	58	1	ZNF215	11	6953559	Missense_Mutation	SNP	G	TCGA-FG-A4MU-01B-11D-A289-08	1423594	6953559	128052957	42	25395											
MRGPRX2	117194	broad.mit.edu	37	11	19077575	19077575	+	Silent	SNP	G	G	A			TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr11:19077575G>A	ENST00000329773.2	-	2	462	c.375C>T	c.(373-375)acC>acT	p.T125T		NM_054030.2	NP_473371.1	Q96LB1	MRGX2_HUMAN	MAS-related GPR, member X2	125					sensory perception of pain|sleep	plasma membrane	G-protein coupled receptor activity|neuropeptide binding			NS(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	15						GGCAGCGCTCGGTGCTGACGG	0.602													41	64					0	0	1	0	0	A	19077575	G	A	19077575	2	1	210	1	0	0	0	0	0	0	0	1	9816	1103	39	1		1	MRGPRX2	11	19077575	Silent	SNP	G	TCGA-FG-A4MU-01B-11D-A289-08	12124016	19077575	115928941	43	25396											
AMBRA1	55626	broad.mit.edu	37	11	46419176	46419176	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr11:46419176G>A	ENST00000458649.2	-	18	4139	c.3721C>T	c.(3721-3723)Cgg>Tgg	p.R1241W	AMBRA1_ENST00000314845.3_Missense_Mutation_p.R1151W|AMBRA1_ENST00000533727.1_Missense_Mutation_p.R1122W|AMBRA1_ENST00000528950.1_Missense_Mutation_p.R1212W|AMBRA1_ENST00000298834.3_Missense_Mutation_p.R1181W|AMBRA1_ENST00000534300.1_Missense_Mutation_p.R1181W|AMBRA1_ENST00000426438.1_Missense_Mutation_p.R1212W			Q9C0C7	AMRA1_HUMAN	autophagy/beclin-1 regulator 1	1241					autophagy|cell differentiation|nervous system development	autophagic vacuole|cytoplasmic vesicle				NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		GTTGGCTCCCGCCCAGGGGTA	0.672													30	42					0	0	1	0	0	A	46419176	G	A	46419176	3	1	210	1	0	0	0	0	1	0	0	0	561	1086	38	1	179	1	AMBRA1	11	46419176	Missense_Mutation	SNP	G	TCGA-FG-A4MU-01B-11D-A289-08	27341601	46419176	88587340	44	25397											
OR5R1	219479	broad.mit.edu	37	11	56185615	56185615	+	Silent	SNP	A	A	G			TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr11:56185615A>G	ENST00000312253.1	-	1	93	c.94T>C	c.(94-96)Tta>Cta	p.L32L		NM_001004744.1	NP_001004744.1	Q8NH85	OR5R1_HUMAN	olfactory receptor, family 5, subfamily R, member 1	32					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(17)|ovary(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(21;0.00448)					TAGATAACTAAAAACACCCCA	0.418													55	67					0	0	1	0	0	G	56185615	A	G	56185615	2	3	210	1	0	0	0	0	0	0	0	1	11227	11	1	3		3	OR5R1	11	56185615	Silent	SNP	A	TCGA-FG-A4MU-01B-11D-A289-08	9766439	56185615	78820901	45	25398											
AHNAK	79026	broad.mit.edu	37	11	62294254	62294254	+	Silent	SNP	C	C	T			TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr11:62294254C>T	ENST00000378024.4	-	5	7909	c.7635G>A	c.(7633-7635)aaG>aaA	p.K2545K	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	2545					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CAATGTCCACCTTGGGTCCTG	0.483													4	170					0	0	1	0	0	T	62294254	C	T	62294254	2	4	210	1	0	0	0	0	0	0	0	1	411	680	24	2		2	AHNAK	11	62294254	Silent	SNP	C	TCGA-FG-A4MU-01B-11D-A289-08	6108639	62294254	72712262	46	25399											
HEPHL1	341208	broad.mit.edu	37	11	93796832	93796832	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr11:93796832G>A	ENST00000315765.9	+	3	582	c.574G>A	c.(574-576)Gcc>Acc	p.A192T		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	192	Plastocyanin-like 1.				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				GCACATCGACGCCCCAAAGGA	0.522													58	71					0	0	1	0	0	A	93796832	G	A	93796832	3	1	210	1	0	0	0	0	1	0	0	0	7096	1087	38	1	584	1	HEPHL1	11	93796832	Missense_Mutation	SNP	G	TCGA-FG-A4MU-01B-11D-A289-08	31502578	93796832	41209684	47	25400											
ADAMTS15	170689	broad.mit.edu	37	11	130340895	130340895	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr11:130340895G>A	ENST00000299164.2	+	6	1801	c.1801G>A	c.(1801-1803)Gtg>Atg	p.V601M		NM_139055.2	NP_620686.1	Q8TE58	ATS15_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 15	601	Cys-rich.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1)	36	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)		CACTCTCGCCGTGGCATGGGT	0.597													89	116					0	0	1	0	0	A	130340895	G	A	130340895	3	1	210	1	0	0	0	0	1	0	0	0	259	1145	40	1	1823	1	ADAMTS15	11	130340895	Missense_Mutation	SNP	G	TCGA-FG-A4MU-01B-11D-A289-08	36544063	130340895	4665621	48	25401											
CD163	9332	broad.mit.edu	37	12	7635288	7635288	+	Silent	SNP	G	G	A			TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr12:7635288G>A	ENST00000359156.4	-	14	3400	c.3198C>T	c.(3196-3198)gtC>gtT	p.V1066V	CD163_ENST00000396620.3_Silent_p.V1099V|CD163_ENST00000541972.1_Silent_p.V1054V|CD163_ENST00000432237.2_Silent_p.V1066V	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	1066					acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						AGAATAATGCGACGAAAATGG	0.423													59	72					0	0	1	0	0	A	7635288	G	A	7635288	2	1	210	1	0	0	0	0	0	0	0	1	2989	1045	37	1		1	CD163	12	7635288	Silent	SNP	G	TCGA-FG-A4MU-01B-11D-A289-08		7635288	126216607	49	25402											
TRPV4	59341	broad.mit.edu	37	12	110234444	110234444	+	Silent	SNP	G	G	A			TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr12:110234444G>A	ENST00000418703.2	-	6	1312	c.1218C>T	c.(1216-1218)ttC>ttT	p.F406F	TRPV4_ENST00000346520.2_Intron|TRPV4_ENST00000544971.1_Intron|TRPV4_ENST00000537083.1_Intron|TRPV4_ENST00000536838.1_Silent_p.F372F|TRPV4_ENST00000541794.1_Silent_p.F359F|TRPV4_ENST00000392719.2_Silent_p.F359F|TRPV4_ENST00000261740.2_Silent_p.F406F	NM_001177431.1	NP_001170902.1	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel, subfamily V, member 4	406					actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus	cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane	actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						CCCAGTCCTTGAACTTGCGGG	0.607													37	51					0	0	1	0	0	A	110234444	G	A	110234444	2	1	210	1	0	0	0	0	0	0	0	1	16659	1281	45	2		2	TRPV4	12	110234444	Silent	SNP	G	TCGA-FG-A4MU-01B-11D-A289-08	102599156	110234444	23617451	50	25403											
HECTD1	25831	broad.mit.edu	37	14	31576337	31576337	+	Silent	SNP	G	G	A			TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr14:31576337G>A	ENST00000399332.1	-	38	7229	c.6741C>T	c.(6739-6741)ttC>ttT	p.F2247F	HECTD1_ENST00000553700.1_Silent_p.F2247F	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	2247	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		AAATTCCAAGGAAATGAAACA	0.378													41	57					0	0	1	0	0	A	31576337	G	A	31576337	2	1	210	1	0	0	0	0	0	0	0	1	7080	1165	41	2		2	HECTD1	14	31576337	Silent	SNP	G	TCGA-FG-A4MU-01B-11D-A289-08		31576337	75773203	51	25404											
KLHDC1	122773	broad.mit.edu	37	14	50206884	50206885	+	Frame_Shift_Ins	INS	-	-	A			TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr14:50206884_50206885insA	ENST00000359332.2	+	11	1055_1056	c.965_966insA	c.(964-969)ttacttfs	p.L323fs	KLHDC1_ENST00000554512.1_3'UTR	NM_172193.2	NP_751943.1	Q8N7A1	KLDC1_HUMAN	kelch domain containing 1	323						cytoplasm				kidney(1)|large_intestine(1)|liver(2)|lung(5)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	12	all_epithelial(31;0.00244)|Breast(41;0.00964)					AAAGATGACTTACTTGCCTTGG	0.332													18	23	---	---	---	---						A	50206885	-	A	50206884	7	5	210	1	0	1	1	0	0	0	0	0	8397	1764	61	0	1007	0	KLHDC1	14	50206884	Frame_Shift_Ins	INS	-	TCGA-FG-A4MU-01B-11D-A289-08	18630547	50206884	57142656	52	25405											
L2HGDH	79944	broad.mit.edu	37	14	50735882	50735882	+	Splice_Site	SNP	G	G	A	rs118204020		TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr14:50735882G>A	ENST00000267436.4	-	7	1302	c.905C>T	c.(904-906)cCg>cTg	p.P302L	L2HGDH_ENST00000261699.4_Splice_Site_p.P302L|L2HGDH_ENST00000421284.3_Splice_Site_p.P302L			Q9H9P8	L2HDH_HUMAN	L-2-hydroxyglutarate dehydrogenase	302			P -> L (in L2HGA).		2-oxoglutarate metabolic process|cellular protein metabolic process	integral to mitochondrial inner membrane	2-hydroxyglutarate dehydrogenase activity			kidney(1)|large_intestine(4)|lung(3)|ovary(2)	10	all_epithelial(31;0.000599)|Breast(41;0.0102)					ATTACCTACCGGATAAATATT	0.388													31	45					0	0	1	0	0	A	50735882	G	A	50735882	5	1	210	1	0	0	0	0	0	0	1	0	8629	1130	39	1	502	1	L2HGDH	14	50735882	Splice_Site	SNP	G	TCGA-FG-A4MU-01B-11D-A289-08	528998	50735882	56613658	53	25406											
CCDC88C	440193	broad.mit.edu	37	14	91770249	91770249	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr14:91770249G>A	ENST00000389857.6	-	20	3517	c.3431C>T	c.(3430-3432)aCg>aTg	p.T1144M		NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	1144					microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway	cytoplasm|insoluble fraction	microtubule binding|PDZ domain binding|protein self-association			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				CTCCTTGGCCGTGTGGTGGTT	0.657													54	63					0	0	1	0	0	A	91770249	G	A	91770249	3	1	210	1	0	0	0	0	1	0	0	0	2885	1145	40	1	2699	1	CCDC88C	14	91770249	Missense_Mutation	SNP	G	TCGA-FG-A4MU-01B-11D-A289-08	41034367	91770249	15579291	54	25407											
IREB2	3658	broad.mit.edu	37	15	78730692	78730692	+	Missense_Mutation	SNP	A	A	G			TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr15:78730692A>G	ENST00000258886.8	+	1	162	c.13A>G	c.(13-15)Aaa>Gaa	p.K5E	IREB2_ENST00000560440.1_Missense_Mutation_p.K5E	NM_004136.2	NP_004127	P48200	IREB2_HUMAN	iron-responsive element binding protein 2	5							4 iron, 4 sulfur cluster binding|metal ion binding|protein binding			central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	41				UCEC - Uterine corpus endometrioid carcinoma (272;0.232)		GGACGCCCCAAAAGCAGGTCA	0.662													6	8					0	0	1	0	0	G	78730692	A	G	78730692	3	3	210	1	0	0	0	0	1	0	0	0	7870	15	1	3	15	3	IREB2	15	78730692	Missense_Mutation	SNP	A	TCGA-FG-A4MU-01B-11D-A289-08		78730692	23800700	55	25408											
AGBL1	123624	broad.mit.edu	37	15	86940603	86940603	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr15:86940603G>A	ENST00000441037.2	+	17	2338	c.2243G>A	c.(2242-2244)cGt>cAt	p.R748H	AGBL1_ENST00000389298.3_Missense_Mutation_p.R479H|AGBL1_ENST00000421325.2_Missense_Mutation_p.R748H	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	748					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						GCAGGACATCGTCCATATCAG	0.403													18	28					0	0	1	0	0	A	86940603	G	A	86940603	3	1	210	1	0	0	0	0	1	0	0	0	372	1145	40	1	2305	1	AGBL1	15	86940603	Missense_Mutation	SNP	G	TCGA-FG-A4MU-01B-11D-A289-08	8209911	86940603	15590789	56	25409											
SRRM2	23524	broad.mit.edu	37	16	2820396	2820396	+	Silent	SNP	C	C	A			TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr16:2820396C>A	ENST00000301740.8	+	13	8614	c.8065C>A	c.(8065-8067)Cgg>Agg	p.R2689R		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	2689	Arg-rich.|Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						CAGGGACTCTCGGTCCCTCAG	0.647													14	13					2.23348e-06	2.2583e-06	1	1	0	A	2820396	C	A	2820396	2	1	210	1	0	0	0	0	0	0	0	1	15225	875	31	5		5	SRRM2	16	2820396	Silent	SNP	C	TCGA-FG-A4MU-01B-11D-A289-08		2820396	87534357	57	25410											
C16orf45	89927	broad.mit.edu	37	16	15609218	15609218	+	Missense_Mutation	SNP	C	C	A			TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr16:15609218C>A	ENST00000300006.4	+	2	522	c.163C>A	c.(163-165)Ctg>Atg	p.L55M	C16orf45_ENST00000566490.1_Missense_Mutation_p.L55M|C16orf45_ENST00000561692.1_Missense_Mutation_p.L7M|C16orf45_ENST00000452191.2_Missense_Mutation_p.L38M	NM_033201.2	NP_149978.1	Q96MC5	CP045_HUMAN	chromosome 16 open reading frame 45	55										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)	11						GGAGATTGAGCTGGAGATGGC	0.532													24	35					6.21321e-17	6.65179e-17	1	1	0	A	15609218	C	A	15609218	3	1	210	1	0	0	0	0	1	0	0	0	1821	796	28	4	228	4	C16orf45	16	15609218	Missense_Mutation	SNP	C	TCGA-FG-A4MU-01B-11D-A289-08	12788822	15609218	74745535	58	25411											
OR3A2	4995	broad.mit.edu	37	17	3181586	3181586	+	Missense_Mutation	SNP	A	A	G			TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr17:3181586A>G	ENST00000408891.2	-	1	682	c.644T>C	c.(643-645)aTg>aCg	p.M215T		NM_002551.3	NP_002542.3	P47893	OR3A2_HUMAN	olfactory receptor, family 3, subfamily A, member 2	215					sensory perception of smell	integral to plasma membrane	olfactory receptor activity			ovary(1)	1						TGTGCCTGCCATGATGAAACC	0.547													39	60					0	0	1	0	0	G	3181586	A	G	3181586	3	3	210	1	0	0	0	0	1	0	0	0	11086	217	8	3	325	3	OR3A2	17	3181586	Missense_Mutation	SNP	A	TCGA-FG-A4MU-01B-11D-A289-08		3181586	78013624	59	25412											
MYH13	8735	broad.mit.edu	37	17	10267760	10267760	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr17:10267760G>A	ENST00000418404.3	-	2	251	c.88C>T	c.(88-90)Cgt>Tgt	p.R30C	MYH13_ENST00000252172.4_Missense_Mutation_p.R30C			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	30	Myosin head-like.				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						TCGAATGGACGATTTTGAGCC	0.463													9	8					0	0	1	0	0	A	10267760	G	A	10267760	3	1	210	1	0	0	0	0	1	0	0	0	10080	1058	37	1	5884	1	MYH13	17	10267760	Missense_Mutation	SNP	G	TCGA-FG-A4MU-01B-11D-A289-08	7086174	10267760	70927450	60	25413											
SDK2	54549	broad.mit.edu	37	17	71344740	71344741	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr17:71344740_71344741delGA	ENST00000392650.3	-	44	6162_6163	c.6162_6163delTC	c.(6160-6165)tctcagfs	p.Q2055fs	SDK2_ENST00000410094.1_5'UTR|SDK2_ENST00000388726.3_Frame_Shift_Del_p.Q2036fs	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	2055					cell adhesion	integral to membrane				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						GCCCTCACCTGAGAGTCGGAGA	0.594													12	23	---	---	---	---						-	71344741	GA	-	71344740	7	5	210	1	0	1	0	1	0	0	0	0	14023	1299	45	0	363	0	SDK2	17	71344740	Frame_Shift_Del	DEL	GA	TCGA-FG-A4MU-01B-11D-A289-08	61076980	71344740	9850470	61	25414											
FHOD3	80206	broad.mit.edu	37	18	34298551	34298551	+	Missense_Mutation	SNP	A	A	G			TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr18:34298551A>G	ENST00000257209.4	+	16	2887	c.2765A>G	c.(2764-2766)gAc>gGc	p.D922G	FHOD3_ENST00000445677.1_Missense_Mutation_p.D884G|FHOD3_ENST00000591635.1_Missense_Mutation_p.D118G|FHOD3_ENST00000359247.4_Missense_Mutation_p.D905G|FHOD3_ENST00000590592.1_Missense_Mutation_p.D1097G|FHOD3_ENST00000592128.1_5'UTR	NM_025135.2	NP_079411.2	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	905	FH2.				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				CGGCCTTTTGACTGGCCATGT	0.502													78	105					0	0	1	0	0	G	34298551	A	G	34298551	3	3	210	1	0	0	0	0	1	0	0	0	5916	275	10	3	2827	3	FHOD3	18	34298551	Missense_Mutation	SNP	A	TCGA-FG-A4MU-01B-11D-A289-08		34298551	43778697	62	25415											
CD209	30835	broad.mit.edu	37	19	7812221	7812221	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr19:7812221C>T	ENST00000315599.7	-	2	99	c.77G>A	c.(76-78)cGa>cAa	p.R26Q	CD209_ENST00000394161.5_Missense_Mutation_p.R26Q|CD209_ENST00000315591.8_Missense_Mutation_p.R26Q|CD209_ENST00000354397.6_Missense_Mutation_p.R26Q|CD209_ENST00000593821.1_Intron|CD209_ENST00000601951.1_Missense_Mutation_p.R26Q|CD209_ENST00000204801.8_Intron|CD209_ENST00000601256.1_Missense_Mutation_p.R26Q|CD209_ENST00000394173.4_Missense_Mutation_p.R26Q|CD209_ENST00000301357.8_Intron|CD209_ENST00000593660.1_Missense_Mutation_p.R26Q|CD209_ENST00000602261.1_Missense_Mutation_p.R26Q	NM_001144895.1|NM_001144897.1|NM_021155.3	NP_001138367.1|NP_001138369.1|NP_066978.1	Q9NNX6	CD209_HUMAN	CD209 molecule	26					cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to membrane|plasma membrane	mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding			endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						TCGAGTCTGTCGGAATCCAAG	0.572													230	567					0	0	1	0	0	T	7812221	C	T	7812221	3	4	210	1	0	0	0	0	1	0	0	0	3006	884	31	1	1161	1	CD209	19	7812221	Missense_Mutation	SNP	C	TCGA-FG-A4MU-01B-11D-A289-08		7812221	51316762	63	25416											
ZNF763	284390	broad.mit.edu	37	19	12089769	12089769	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr19:12089769G>A	ENST00000343949.5	+	4	1194	c.1039G>A	c.(1039-1041)Gaa>Aaa	p.E347K	ZNF763_ENST00000590798.1_Missense_Mutation_p.E364K|ZNF763_ENST00000358987.3_Missense_Mutation_p.E344K|ZNF763_ENST00000538752.1_Missense_Mutation_p.E364K|ZNF763_ENST00000545530.1_Missense_Mutation_p.E222K	NM_001012753.1	NP_001012771.1			zinc finger protein 763											central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)	15						TCAATGTAAGGAATGTAGAAA	0.413													57	119					0	0	1	0	0	A	12089769	G	A	12089769	3	1	210	1	0	0	0	0	1	0	0	0	18187	1175	41	2	1053	2	ZNF763	19	12089769	Missense_Mutation	SNP	G	TCGA-FG-A4MU-01B-11D-A289-08	4277548	12089769	47039214	64	25417											
C19orf43	79002	broad.mit.edu	37	19	12841862	12841862	+	Silent	SNP	G	G	A	rs116718949	byFrequency	TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr19:12841862G>A	ENST00000242784.4	-	3	561	c.444C>T	c.(442-444)gaC>gaT	p.D148D	C19orf43_ENST00000588213.1_3'UTR|C19orf43_ENST00000592273.1_Silent_p.D122D	NM_024038.2	NP_076943.1	Q9BQ61	CS043_HUMAN	chromosome 19 open reading frame 43	148										endometrium(2)|large_intestine(2)	4						TGGCCCACGCGTCACCTTTAC	0.557													40	88					0	0	1	0	0	A	12841862	G	A	12841862	2	1	210	1	0	0	0	0	0	0	0	1	1938	1136	40	1		1	C19orf43	19	12841862	Silent	SNP	G	TCGA-FG-A4MU-01B-11D-A289-08	752093	12841862	46287121	65	25418											
SLC1A6	6511	broad.mit.edu	37	19	15063753	15063753	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr19:15063753C>T	ENST00000430939.2	-	8	1423	c.1294G>A	c.(1294-1296)Gtg>Atg	p.V432M	SLC1A6_ENST00000221742.3_Missense_Mutation_p.V496M|SLC1A6_ENST00000600144.1_Missense_Mutation_p.V418M			P48664	EAA4_HUMAN	solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6	496					synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42					L-Glutamic Acid(DB00142)	AACCAGTCCACGGCAATGATG	0.582													71	127					0	0	1	0	0	T	15063753	C	T	15063753	3	4	210	1	0	0	0	0	1	0	0	0	14491	536	19	1	216	1	SLC1A6	19	15063753	Missense_Mutation	SNP	C	TCGA-FG-A4MU-01B-11D-A289-08	2221891	15063753	44065230	66	25419											
RYR1	6261	broad.mit.edu	37	19	38942436	38942436	+	Silent	SNP	C	C	T	rs144658230		TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr19:38942436C>T	ENST00000355481.4	+	12	1286	c.1155C>T	c.(1153-1155)gaC>gaT	p.D385D	RYR1_ENST00000360985.3_Silent_p.D385D|RYR1_ENST00000359596.3_Silent_p.D385D	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	385	MIR 5.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	ACATGGACGACGCACTGTCGC	0.632													45	106					0	0	1	0	0	T	38942436	C	T	38942436	2	4	210	1	0	0	0	0	0	0	0	1	13820	535	19	1		1	RYR1	19	38942436	Silent	SNP	C	TCGA-FG-A4MU-01B-11D-A289-08	23878683	38942436	20186547	67	25420											
RSPH6A	81492	broad.mit.edu	37	19	46313896	46313896	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr19:46313896C>T	ENST00000221538.3	-	2	995	c.853G>A	c.(853-855)Ggc>Agc	p.G285S	RSPH6A_ENST00000597055.1_Missense_Mutation_p.G285S|RSPH6A_ENST00000600188.1_Missense_Mutation_p.G21S	NM_030785.3	NP_110412.1	Q9H0K4	RSH6A_HUMAN	radial spoke head 6 homolog A (Chlamydomonas)	285						intracellular				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	32						CCTTCAGTGCCGCCTCCACTC	0.627													124	303					0	0	1	0	0	T	46313896	C	T	46313896	3	4	210	1	0	0	0	0	1	0	0	0	13759	652	23	1	1320	1	RSPH6A	19	46313896	Missense_Mutation	SNP	C	TCGA-FG-A4MU-01B-11D-A289-08	7371460	46313896	12815087	68	25421											
LILRA4	23547	broad.mit.edu	37	19	54849686	54849686	+	Silent	SNP	G	G	A			TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr19:54849686G>A	ENST00000291759.4	-	3	392	c.336C>T	c.(334-336)ccC>ccT	p.P112P		NM_012276.3	NP_036408.3	P59901	LIRA4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4	112	Ig-like C2-type 1.					integral to membrane	receptor activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	32	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0565)		CCAGCTCCAGGGGGTCGCTGG	0.617													30	71					0	0	1	0	0	A	54849686	G	A	54849686	2	1	210	1	0	0	0	0	0	0	0	1	8827	1219	43	2		2	LILRA4	19	54849686	Silent	SNP	G	TCGA-FG-A4MU-01B-11D-A289-08	8535790	54849686	4279297	69	25422											
TMPRSS15	5651	broad.mit.edu	37	21	19716359	19716359	+	Missense_Mutation	SNP	G	G	T			TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr21:19716359G>T	ENST00000284885.3	-	11	1223	c.1190C>A	c.(1189-1191)cCa>cAa	p.P397Q		NM_002772.2	NP_002763	P98073	ENTK_HUMAN	transmembrane protease, serine 15	397	MAM.				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						TGGTCCAGTTGGGGTAGAAAT	0.398													72	73					9.07738e-34	1.0198e-33	1	1	0	T	19716359	G	T	19716359	3	4	210	1	0	0	0	0	1	0	0	0	16306	1348	47	5	1929	5	TMPRSS15	21	19716359	Missense_Mutation	SNP	G	TCGA-FG-A4MU-01B-11D-A289-08		19716359	28413536	70	25423											
CCT8	10694	broad.mit.edu	37	21	30440001	30440001	+	Missense_Mutation	SNP	A	A	G			TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr21:30440001A>G	ENST00000286788.4	-	4	463	c.257T>C	c.(256-258)aTt>aCt	p.I86T	CCT8_ENST00000540844.1_Missense_Mutation_p.I13T|CCT8_ENST00000542732.1_Missense_Mutation_p.I67T|CCT8_ENST00000470450.1_5'UTR	NM_006585.2	NP_006576.2	P50990	TCPQ_HUMAN	chaperonin containing TCP1, subunit 8 (theta)	86					'de novo' posttranslational protein folding	aggresome|cytosol|intermediate filament cytoskeleton|microtubule organizing center	ATP binding|ATPase activity, coupled|unfolded protein binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(1)|prostate(3)	14						AGCCATTACAATCATTTTTGC	0.368													4	60					0	0	1	0	0	G	30440001	A	G	30440001	3	3	210	1	0	0	0	0	1	0	0	0	2982	101	4	3	1437	3	CCT8	21	30440001	Missense_Mutation	SNP	A	TCGA-FG-A4MU-01B-11D-A289-08	10723642	30440001	17689894	71	25424											
SLC5A4	6527	broad.mit.edu	37	22	32643471	32643471	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr22:32643471C>T	ENST00000266086.4	-	5	415	c.404G>A	c.(403-405)cGg>cAg	p.R135Q	RP1-90G24.10_ENST00000434942.1_RNA	NM_014227.2	NP_055042.1	Q9NY91	SC5A4_HUMAN	solute carrier family 5 (glucose activated ion channel), member 4	135					carbohydrate transport|sodium ion transport	integral to membrane	symporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|pancreas(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						CCCACCAAACCGCTTCTTGAG	0.488													20	34					0	0	1	0	0	T	32643471	C	T	32643471	3	4	210	1	0	0	0	0	1	0	0	0	14722	652	23	1	1619	1	SLC5A4	22	32643471	Missense_Mutation	SNP	C	TCGA-FG-A4MU-01B-11D-A289-08		32643471	18661095	72	25425											
MICALL1	85377	broad.mit.edu	37	22	38329071	38329071	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr22:38329071C>T	ENST00000215957.6	+	13	2386	c.2260C>T	c.(2260-2262)Cgc>Tgc	p.R754C	MICALL1_ENST00000402631.1_3'UTR	NM_033386.3	NP_203744.1	Q8N3F8	MILK1_HUMAN	MICAL-like 1	754						cytoplasm|cytoskeleton	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	24	Melanoma(58;0.045)					CCTGGAGCAGCGCCAGGCTGA	0.612													39	64					0	0	1	0	0	T	38329071	C	T	38329071	3	4	210	1	0	0	0	0	1	0	0	0	9621	768	27	1	2310	1	MICALL1	22	38329071	Missense_Mutation	SNP	C	TCGA-FG-A4MU-01B-11D-A289-08	5685600	38329071	12975495	73	25426											
TEX13A	56157	broad.mit.edu	37	X	104464686	104464686	+	Silent	SNP	G	G	T			TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chrX:104464686G>T	ENST00000372578.3	-	2	507	c.396C>A	c.(394-396)gcC>gcA	p.A132A	IL1RAPL2_ENST00000344799.4_Intron|TEX13A_ENST00000372575.1_Silent_p.A132A|TEX13A_ENST00000413579.1_Silent_p.A132A|IL1RAPL2_ENST00000372582.1_Intron	NM_031274.3	NP_112564.1	Q9BXU3	TX13A_HUMAN	testis expressed 13A	132						intracellular	zinc ion binding			large_intestine(5)|ovary(2)|upper_aerodigestive_tract(1)	8						GGCTGGTCTGGGCCATTCTTA	0.592													17	0					3.51602e-12	3.67767e-12	1	1	0	T	104464686	G	T	104464686	2	4	210	1	0	0	0	0	0	0	0	1	15835	1219	43	5		5	TEX13A	23	104464686	Silent	SNP	G	TCGA-FG-A4MU-01B-11D-A289-08		104464686	50805874	74	25427											
PLXNA3	55558	broad.mit.edu	37	X	153693430	153693430	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chrX:153693430C>T	ENST00000369682.3	+	11	2288	c.2113C>T	c.(2113-2115)Cgg>Tgg	p.R705W		NM_017514.3	NP_059984.3	P51805	PLXA3_HUMAN	plexin A3	705					axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TCTTACCTTGCGGGCTAAGAA	0.647													26	0					0	0	1	0	0	T	153693430	C	T	153693430	3	4	210	1	0	0	0	0	1	0	0	0	12169	759	27	1	2151	1	PLXNA3	23	153693430	Missense_Mutation	SNP	C	TCGA-FG-A4MU-01B-11D-A289-08	49228744	153693430	1577130	75	25428											
ZBTB40	9923	broad.mit.edu	37	1	22852748	22852748	+	Silent	SNP	G	G	A			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr1:22852748G>A	ENST00000404138.1	+	19	4090	c.3579G>A	c.(3577-3579)gaG>gaA	p.E1193E	ZBTB40_ENST00000374651.4_Silent_p.E1081E|ZBTB40_ENST00000375647.4_Silent_p.E1193E	NM_001083621.1	NP_001077090.1	Q9NUA8	ZBT40_HUMAN	zinc finger and BTB domain containing 40	1193					bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)		TCACTTTGGAGGAGACCCAGC	0.592													15	64					0	0	1	0	0	A	22852748	G	A	22852748	2	1	211	1	0	0	0	0	0	0	0	1	17601	991	35	2		2	ZBTB40	1	22852748	Silent	SNP	G	TCGA-FG-A4MW-01A-11D-A26M-08		22852748	226397873	1	25429											
PTCH2	8643	broad.mit.edu	37	1	45294292	45294292	+	Silent	SNP	G	G	A			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr1:45294292G>A	ENST00000447098.2	-	12	1487	c.1476C>T	c.(1474-1476)ggC>ggT	p.G492G	PTCH2_ENST00000372192.3_Silent_p.G492G	NM_001166292.1	NP_001159764.1	Q9Y6C5	PTC2_HUMAN	patched 2	492	SSD.				protein complex assembly|spermatogenesis	integral to plasma membrane	hedgehog receptor activity			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50	Acute lymphoblastic leukemia(166;0.155)					GCAGACACTCGCCCATGCGCT	0.632									Basal Cell Nevus syndrome				5	9					0	0	1	0	0	A	45294292	G	A	45294292	2	1	211	1	0	0	0	0	0	0	0	1	12780	1074	38	1		1	PTCH2	1	45294292	Silent	SNP	G	TCGA-FG-A4MW-01A-11D-A26M-08	22441544	45294292	203956329	2	25430											
PHGDH	26227	broad.mit.edu	37	1	120254648	120254648	+	Translation_Start_Site	SNP	G	G	A			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr1:120254648G>A	ENST00000369409.4	+	1	139	c.3G>A	c.(1-3)atG>atA	p.M1I		NM_006623.3	NP_006614.2	O43175	SERA_HUMAN	phosphoglycerate dehydrogenase	1					brain development|L-serine biosynthetic process		electron carrier activity|NAD binding|phosphoglycerate dehydrogenase activity	p.M1I(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	18	all_cancers(5;1.18e-09)|all_epithelial(5;2.16e-10)|Melanoma(3;1.93e-05)|all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0347)		Lung(183;0.0111)|LUSC - Lung squamous cell carcinoma(189;0.0593)	NADH(DB00157)	CTCCAGCAATGGCTTTTGCAA	0.557													16	38					0	0	1	0	0	A	120254648	G	A	120254648	1	1	211	1	0	0	0	0	0	0	0	0	11889	1348	47	2		2	PHGDH	1	120254648	Translation_Start_Site	SNP	G	TCGA-FG-A4MW-01A-11D-A26M-08	74960356	120254648	128995973	3	25431											
LCE2A	353139	broad.mit.edu	37	1	152671572	152671572	+	Silent	SNP	C	C	T	rs61812675		TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr1:152671572C>T	ENST00000368779.1	+	2	246	c.195C>T	c.(193-195)ggC>ggT	p.G65G		NM_178428.3	NP_848515.1	Q5TA79	LCE2A_HUMAN	late cornified envelope 2A	65	Cys-rich.				keratinization					breast(1)|large_intestine(1)|liver(2)|lung(4)	8	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGGGGGTGGCGGCTGCTGCC	0.687													50	76					0	0	1	0	0	T	152671572	C	T	152671572	2	4	211	1	0	0	0	0	0	0	0	1	8704	755	27	1		1	LCE2A	1	152671572	Silent	SNP	C	TCGA-FG-A4MW-01A-11D-A26M-08	32416924	152671572	96579049	4	25432											
PEAR1	375033	broad.mit.edu	37	1	156884576	156884576	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr1:156884576C>T	ENST00000338302.3	+	24	3325	c.3100C>T	c.(3100-3102)Cgc>Tgc	p.R1034C	PEAR1_ENST00000292357.7_Missense_Mutation_p.R1034C			Q5VY43	PEAR1_HUMAN	platelet endothelial aggregation receptor 1	1034						integral to membrane				breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)	43	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					TCCACTTCGACGCCAGGACCG	0.612													12	27					0	0	1	0	0	T	156884576	C	T	156884576	3	4	211	1	0	0	0	0	1	0	0	0	11759	536	19	1	3186	1	PEAR1	1	156884576	Missense_Mutation	SNP	C	TCGA-FG-A4MW-01A-11D-A26M-08	4213004	156884576	92366045	5	25433											
ZC3H11A	9877	broad.mit.edu	37	1	203818970	203818971	+	Frame_Shift_Ins	INS	-	-	G			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr1:203818970_203818971insG	ENST00000545588.1	+	14	5582_5583	c.1755_1756insG	c.(1756-1758)gccfs	p.A586fs	ZC3H11A_ENST00000332127.4_Frame_Shift_Ins_p.A586fs|ZC3H11A_ENST00000367212.3_Frame_Shift_Ins_p.A586fs|ZC3H11A_ENST00000367214.1_Frame_Shift_Ins_p.A586fs|ZC3H11A_ENST00000367210.1_Frame_Shift_Ins_p.A586fs	NM_001271675.1	NP_001258604.1	O75152	ZC11A_HUMAN	zinc finger CCCH-type containing 11A	586							nucleic acid binding|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32	all_cancers(21;0.0904)|all_epithelial(62;0.234)		BRCA - Breast invasive adenocarcinoma(75;0.109)			GGGGAGATGTAGCCTCTTGCAA	0.5													16	44	---	---	---	---						G	203818971	-	G	203818970	7	5	211	1	0	1	1	0	0	0	0	0	17619	407	15	0	1805	0	ZC3H11A	1	203818970	Frame_Shift_Ins	INS	-	TCGA-FG-A4MW-01A-11D-A26M-08	46934394	203818970	45431651	6	25434											
COLEC11	78989	broad.mit.edu	37	2	3691388	3691388	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr2:3691388G>A	ENST00000403096.3	+	6	909	c.418G>A	c.(418-420)Gcc>Acc	p.A140T	COLEC11_ENST00000402794.1_Missense_Mutation_p.A116T|COLEC11_ENST00000236693.7_Missense_Mutation_p.A163T|COLEC11_ENST00000404205.1_Missense_Mutation_p.A92T|COLEC11_ENST00000487365.1_3'UTR|COLEC11_ENST00000418971.2_Missense_Mutation_p.A180T|COLEC11_ENST00000382062.2_Missense_Mutation_p.A142T|COLEC11_ENST00000402922.1_Missense_Mutation_p.A116T|COLEC11_ENST00000349077.4_Missense_Mutation_p.A166T	NM_001255986.1	NP_001242915.1	Q9BWP8	COL11_HUMAN	collectin sub-family member 11	166						collagen	mannose binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|soft_tissue(1)	22	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)			OV - Ovarian serous cystadenocarcinoma(76;0.127)		CTACGCGGACGCCCAGCTGTC	0.662													20	54					0	0	1	0	0	A	3691388	G	A	3691388	3	1	211	1	0	0	0	0	1	0	0	0	3734	1087	38	1	601	1	COLEC11	2	3691388	Missense_Mutation	SNP	G	TCGA-FG-A4MW-01A-11D-A26M-08		3691388	239507985	7	25435											
NLRC4	58484	broad.mit.edu	37	2	32461395	32461395	+	Silent	SNP	G	G	A			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr2:32461395G>A	ENST00000404025.2	-	8	3023	c.2535C>T	c.(2533-2535)caC>caT	p.H845H	NLRC4_ENST00000342905.6_Silent_p.H180H|NLRC4_ENST00000360906.5_Silent_p.H845H|NLRC4_ENST00000402280.1_Silent_p.H845H			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	845					activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					TGACCAAATTGTGAAGATTCT	0.303													6	11					0	0	1	0	0	A	32461395	G	A	32461395	2	1	211	1	0	0	0	0	0	0	0	1	10516	1368	48	2		2	NLRC4	2	32461395	Silent	SNP	G	TCGA-FG-A4MW-01A-11D-A26M-08	28770007	32461395	210737978	8	25436											
SAP130	79595	broad.mit.edu	37	2	128707774	128707776	+	In_Frame_Del	DEL	CAC	CAC	-			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr2:128707774_128707776delCAC	ENST00000357702.5	-	17	2838_2840	c.2707_2709delGTG	c.(2707-2709)gtgdel	p.V903del	SAP130_ENST00000259235.3_In_Frame_Del_p.V868del|SAP130_ENST00000259234.6_In_Frame_Del_p.V876del	NM_001145928.1	NP_001139400.1	Q9H0E3	SP130_HUMAN	Sin3A-associated protein, 130kDa	868	Interactions with SIN3A and HDAC1.				histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity			NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		TCTCAGCCTTCACCAGAAGACTC	0.468													34	73	---	---	---	---						-	128707776	CAC	-	128707774	7	5	211	1	0	1	0	1	0	0	0	0	13883	813	29	0	562	0	SAP130	2	128707774	In_Frame_Del	DEL	CAC	TCGA-FG-A4MW-01A-11D-A26M-08	96246379	128707774	114491599	9	25437											
FSIP2	401024	broad.mit.edu	37	2	186670853	186670853	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr2:186670853G>A	ENST00000343098.5	+	17	17087	c.17087G>A	c.(17086-17088)gGc>gAc	p.G5696D	FSIP2_ENST00000424728.1_Missense_Mutation_p.G5607D	NM_173651.2	NP_775922.2			fibrous sheath interacting protein 2											NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						TCTGAAATAGGCTATAAAAAG	0.328													10	27					0	0	1	0	0	A	186670853	G	A	186670853	3	1	211	1	0	0	0	0	1	0	0	0	6110	1203	42	2	17153	2	FSIP2	2	186670853	Missense_Mutation	SNP	G	TCGA-FG-A4MW-01A-11D-A26M-08	57963079	186670853	56528520	10	25438											
RBMS3	27303	broad.mit.edu	37	3	29977603	29977603	+	Silent	SNP	C	C	T			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr3:29977603C>T	ENST00000434693.2	+	11	1663	c.963C>T	c.(961-963)gaC>gaT	p.D321D	RBMS3_ENST00000452462.1_Silent_p.D322D|RBMS3_ENST00000456853.1_Silent_p.D335D|RBMS3_ENST00000383766.2_Silent_p.D304D|RBMS3_ENST00000273139.9_Silent_p.D322D|RBMS3_ENST00000383767.2_Silent_p.D322D|RBMS3_ENST00000396583.3_Silent_p.D335D|RBMS3_ENST00000473799.1_3'UTR	NM_001003793.2	NP_001003793.1	Q6XE24	RBMS3_HUMAN	RNA binding motif, single stranded interacting protein 3	322						cytoplasm	nucleotide binding|RNA binding			breast(1)|central_nervous_system(1)|large_intestine(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	11		Ovarian(412;0.0956)				CAACCATGGACCATCCCATGT	0.438													5	16					0	0	1	0	0	T	29977603	C	T	29977603	2	4	211	1	0	0	0	0	0	0	0	1	13202	506	18	2		2	RBMS3	3	29977603	Silent	SNP	C	TCGA-FG-A4MW-01A-11D-A26M-08		29977603	168044827	11	25439											
FLNB	2317	broad.mit.edu	37	3	58080624	58080624	+	Silent	SNP	C	C	T			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr3:58080624C>T	ENST00000357272.4	+	5	1014	c.849C>T	c.(847-849)agC>agT	p.S283S	FLNB_ENST00000419752.2_Silent_p.S114S|FLNB_ENST00000358537.3_Silent_p.S283S|FLNB_ENST00000490882.1_Silent_p.S283S|FLNB_ENST00000348383.5_Silent_p.S283S|FLNB_ENST00000493452.1_Silent_p.S114S|FLNB_ENST00000429972.2_Silent_p.S283S|FLNB_ENST00000295956.4_Silent_p.S283S			O75369	FLNB_HUMAN	filamin B, beta	283					actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		ACACCATCAGCGCCGGGCAAG	0.542													41	100					0	0	1	0	0	T	58080624	C	T	58080624	2	4	211	1	0	0	0	0	0	0	0	1	5967	767	27	1		1	FLNB	3	58080624	Silent	SNP	C	TCGA-FG-A4MW-01A-11D-A26M-08	28103021	58080624	139941806	12	25440											
AADACL2	344752	broad.mit.edu	37	3	151475059	151475062	+	Frame_Shift_Del	DEL	TATG	TATG	-			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr3:151475059_151475062delTATG	ENST00000356517.3	+	5	992_995	c.883_886delTATG	c.(883-888)tatgtafs	p.YV295fs	RP11-454C18.2_ENST00000483843.2_RNA|RP11-454C18.2_ENST00000475855.1_RNA	NM_207365.3	NP_997248.2	Q6P093	ADCL2_HUMAN	arylacetamide deacetylase-like 2	295						extracellular region|integral to membrane	carboxylesterase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(13)|skin(2)	24			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			TAGAAAAGACTATGTATATACTGA	0.397													16	38	---	---	---	---						-	151475062	TATG	-	151475059	7	5	211	1	0	1	0	1	0	0	0	0	11	1522	53	0	901	0	AADACL2	3	151475059	Frame_Shift_Del	DEL	TATG	TCGA-FG-A4MW-01A-11D-A26M-08	93394435	151475059	46547371	13	25441											
SLITRK3	22865	broad.mit.edu	37	3	164907844	164907844	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr3:164907844T>C	ENST00000475390.1	-	2	1218	c.775A>G	c.(775-777)Att>Gtt	p.I259V	SLITRK3_ENST00000241274.3_Missense_Mutation_p.I259V			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	259	LRRCT 1.					integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						TCACAGGTAATGTCTCCCACC	0.488										HNSCC(40;0.11)			5	86					0	0	1	0	0	C	164907844	T	C	164907844	3	2	211	1	0	0	0	0	1	0	0	0	14798	1464	51	3	2162	3	SLITRK3	3	164907844	Missense_Mutation	SNP	T	TCGA-FG-A4MW-01A-11D-A26M-08	13432785	164907844	33114586	14	25442											
WFS1	7466	broad.mit.edu	37	4	6304060	6304060	+	Silent	SNP	C	C	T			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr4:6304060C>T	ENST00000226760.1	+	8	2708	c.2538C>T	c.(2536-2538)agC>agT	p.S846S	WFS1_ENST00000503569.1_Silent_p.S846S	NM_001145853.1|NM_006005.3	NP_001139325.1|NP_005996.2	O76024	WFS1_HUMAN	Wolfram syndrome 1 (wolframin)	846					endoplasmic reticulum calcium ion homeostasis|endoplasmic reticulum unfolded protein response|ER overload response|ER-associated protein catabolic process|glucose homeostasis|kidney development|negative regulation of neuron apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|polyubiquitinated misfolded protein transport|positive regulation of calcium ion transport|positive regulation of growth|positive regulation of protein ubiquitination|positive regulation of proteolysis|protein stabilization|renal water homeostasis|sensory perception of sound|visual perception	dendrite|integral to endoplasmic reticulum membrane	activating transcription factor binding|ATPase binding|transporter activity|ubiquitin protein ligase binding			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	21				Colorectal(103;0.0512)		AGGCCATCAGCTGCCTCAACT	0.652													17	35					0	0	1	0	0	T	6304060	C	T	6304060	2	4	211	1	0	0	0	0	0	0	0	1	17420	796	28	2		2	WFS1	4	6304060	Silent	SNP	C	TCGA-FG-A4MW-01A-11D-A26M-08		6304060	184850216	15	25443											
ENPEP	2028	broad.mit.edu	37	4	111398156	111398156	+	Missense_Mutation	SNP	C	C	A	rs112068198	byFrequency	TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr4:111398156C>A	ENST00000265162.5	+	1	928	c.586C>A	c.(586-588)Ctg>Atg	p.L196M		NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	196					cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)	CGCCGGCTGGCTGAACGGCTC	0.502													20	50					7.45023e-12	7.77066e-12	1	1	0	A	111398156	C	A	111398156	3	1	211	1	0	0	0	0	1	0	0	0	5156	796	28	4	588	4	ENPEP	4	111398156	Missense_Mutation	SNP	C	TCGA-FG-A4MW-01A-11D-A26M-08	105094096	111398156	79756120	16	25444											
HHIP	64399	broad.mit.edu	37	4	145579961	145579961	+	Silent	SNP	G	G	A	rs146735069		TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr4:145579961G>A	ENST00000296575.3	+	3	1147	c.492G>A	c.(490-492)gcG>gcA	p.A164A	HHIP_ENST00000511314.1_3'UTR|HHIP-AS1_ENST00000512359.1_RNA|HHIP_ENST00000434550.2_Silent_p.A164A	NM_022475.2	NP_071920.1	Q96QV1	HHIP_HUMAN	hedgehog interacting protein	164						cytoplasm|extracellular region	catalytic activity|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0185)		AAACAACTGCGGATGAGTTTT	0.358													10	35					0	0	1	0	0	A	145579961	G	A	145579961	2	1	211	1	0	0	0	0	0	0	0	1	7133	1103	39	1		1	HHIP	4	145579961	Silent	SNP	G	TCGA-FG-A4MW-01A-11D-A26M-08	34181805	145579961	45574315	17	25445											
ACSL1	2180	broad.mit.edu	37	4	185678385	185678385	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr4:185678385G>A	ENST00000515030.1	-	21	2316	c.1991C>T	c.(1990-1992)tCt>tTt	p.S664F	ACSL1_ENST00000507295.1_Missense_Mutation_p.S630F|ACSL1_ENST00000504342.1_Missense_Mutation_p.S664F|ACSL1_ENST00000513317.1_Missense_Mutation_p.S664F|ACSL1_ENST00000437665.3_Missense_Mutation_p.S493F|ACSL1_ENST00000281455.2_Missense_Mutation_p.S664F|ACSL1_ENST00000454703.2_Missense_Mutation_p.S493F			P33121	ACSL1_HUMAN	acyl-CoA synthetase long-chain family member 1	664					digestion|fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|regulation of fatty acid oxidation|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(17)|ovary(2)|prostate(1)|skin(2)	38		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00172)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0315)|all_neural(102;0.107)|Medulloblastoma(177;0.146)		all cancers(43;1.33e-28)|Epithelial(43;5.3e-25)|OV - Ovarian serous cystadenocarcinoma(60;4.88e-11)|Colorectal(24;3.59e-06)|STAD - Stomach adenocarcinoma(60;2.72e-05)|GBM - Glioblastoma multiforme(59;2.83e-05)|BRCA - Breast invasive adenocarcinoma(30;7.66e-05)|COAD - Colon adenocarcinoma(29;0.000538)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.0419)	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	ATTGTCGATAGAAAATAATTC	0.453													17	23					0	0	1	0	0	A	185678385	G	A	185678385	3	1	211	1	0	0	0	0	1	0	0	0	177	942	33	2	109	2	ACSL1	4	185678385	Missense_Mutation	SNP	G	TCGA-FG-A4MW-01A-11D-A26M-08	40098424	185678385	5475891	18	25446											
C6	729	broad.mit.edu	37	5	41149449	41149449	+	Silent	SNP	G	G	A			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr5:41149449G>A	ENST00000263413.3	-	17	2781	c.2517C>T	c.(2515-2517)gaC>gaT	p.D839D	C6_ENST00000337836.5_Silent_p.D839D	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	839	C5b-binding domain.|Complement control factor I module 1.|Kazal-like 1.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				ACTGGCGGCCGTCTTGGCAGG	0.418													35	69					0	0	1	0	0	A	41149449	G	A	41149449	2	1	211	1	0	0	0	0	0	0	0	1	2329	1136	40	1		1	C6	5	41149449	Silent	SNP	G	TCGA-FG-A4MW-01A-11D-A26M-08		41149449	139765811	19	25447											
HAPLN1	1404	broad.mit.edu	37	5	82937339	82937339	+	Silent	SNP	G	G	A			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr5:82937339G>A	ENST00000274341.4	-	5	1891	c.1041C>T	c.(1039-1041)gtC>gtT	p.V347V		NM_001884.3	NP_001875.1	P10915	HPLN1_HUMAN	hyaluronan and proteoglycan link protein 1	347	Link 2.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|liver(1)|lung(15)|ovary(1)|prostate(1)|skin(1)	34		Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;7.82e-42)|Epithelial(54;5.88e-35)|all cancers(79;1.14e-29)		TGAAGCAGTAGACACCATACA	0.453													13	97					0	0	1	0	0	A	82937339	G	A	82937339	2	1	211	1	0	0	0	0	0	0	0	1	6995	929	33	2		2	HAPLN1	5	82937339	Silent	SNP	G	TCGA-FG-A4MW-01A-11D-A26M-08	41787890	82937339	97977921	20	25448											
GRIA1	2890	broad.mit.edu	37	5	153078545	153078545	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr5:153078545G>A	ENST00000285900.5	+	10	1707	c.1364G>A	c.(1363-1365)cGt>cAt	p.R455H	GRIA1_ENST00000521843.2_Missense_Mutation_p.R386H|GRIA1_ENST00000448073.4_Missense_Mutation_p.R465H|GRIA1_ENST00000340592.5_Missense_Mutation_p.R455H|GRIA1_ENST00000518142.1_Missense_Mutation_p.R375H|GRIA1_ENST00000518783.1_Missense_Mutation_p.R465H	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	455					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding	p.R455H(1)		NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	TACTCCTACCGTCTGGAGATT	0.542													12	29					0	0	1	0	0	A	153078545	G	A	153078545	3	1	211	1	0	0	0	0	1	0	0	0	6808	1145	40	1	1402	1	GRIA1	5	153078545	Missense_Mutation	SNP	G	TCGA-FG-A4MW-01A-11D-A26M-08	70141206	153078545	27836715	21	25449											
HLA-DPB1	3115	broad.mit.edu	37	6	33052887	33052887	+	Silent	SNP	C	C	A			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr6:33052887C>A	ENST00000418931.2	+	3	641	c.525C>A	c.(523-525)atC>atA	p.I175I		NM_002121.5	NP_002112.3	P04440	DPB1_HUMAN	major histocompatibility complex, class II, DP beta 1	175	Beta-2.|Ig-like C1-type.				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|endosome membrane|Golgi apparatus|integral to membrane|lysosomal membrane|MHC class II protein complex				cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	11						CCAACCTGATCCGTAATGGAG	0.552													24	64					4.72057e-08	4.81995e-08	1	1	0	A	33052887	C	A	33052887	2	1	211	1	0	0	0	0	0	0	0	1	7244	845	30	5		5	HLA-DPB1	6	33052887	Silent	SNP	C	TCGA-FG-A4MW-01A-11D-A26M-08		33052887	138062180	22	25450											
TIAM2	26230	broad.mit.edu	37	6	155450785	155450785	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr6:155450785G>A	ENST00000461783.3	+	6	1701	c.428G>A	c.(427-429)aGg>aAg	p.R143K	TIAM2_ENST00000318981.5_Missense_Mutation_p.R143K|TIAM2_ENST00000529824.2_Missense_Mutation_p.R143K|TIAM2_ENST00000367174.2_5'UTR|TIAM2_ENST00000456144.1_Missense_Mutation_p.R143K|TIAM2_ENST00000360366.4_Missense_Mutation_p.R143K			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	143					apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		TGCTACGGGAGGAATGAGAGC	0.567													14	25					0	0	1	0	0	A	155450785	G	A	155450785	3	1	211	1	0	0	0	0	1	0	0	0	15951	1000	35	2	430	2	TIAM2	6	155450785	Missense_Mutation	SNP	G	TCGA-FG-A4MW-01A-11D-A26M-08	122397898	155450785	15664282	23	25451											
CARD11	84433	broad.mit.edu	37	7	2983911	2983911	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr7:2983911G>A	ENST00000396946.4	-	5	1022	c.619C>T	c.(619-621)Cgc>Tgc	p.R207C	AC004906.3_ENST00000423194.1_RNA	NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	207					positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		TGTGCGTAGCGCATGGCTAAG	0.567			Mis		DLBCL								17	87					0	0	1	0	0	A	2983911	G	A	2983911	3	1	211	1	0	0	0	0	1	0	0	0	2663	1087	38	1	2929	1	CARD11	7	2983911	Missense_Mutation	SNP	G	TCGA-FG-A4MW-01A-11D-A26M-08		2983911	156154752	24	25452											
EGFR	1956	broad.mit.edu	37	7	55223567	55223567	+	Missense_Mutation	SNP	G	G	T			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr7:55223567G>T	ENST00000275493.2	+	8	1111	c.934G>T	c.(934-936)Ggg>Tgg	p.G312W	EGFR_ENST00000342916.3_Missense_Mutation_p.G312W|EGFR_ENST00000442591.1_Missense_Mutation_p.G312W|EGFR_ENST00000454757.2_Missense_Mutation_p.G259W|EGFR_ENST00000455089.1_Missense_Mutation_p.G267W|EGFR_ENST00000344576.2_Missense_Mutation_p.G312W|EGFR_ENST00000420316.2_Missense_Mutation_p.G312W	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	312					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	CCGAGCCTGTGGGGCCGACAG	0.607		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			3323	325					0	0	1	1	0	T	55223567	G	T	55223567	3	4	211	1	0	0	0	0	1	0	0	0	4993	1348	47	5	964	5	EGFR	7	55223567	Missense_Mutation	SNP	G	TCGA-FG-A4MW-01A-11D-A26M-08	52239656	55223567	103915096	25	25453											
CDK14	5218	broad.mit.edu	37	7	90377064	90377064	+	Silent	SNP	T	T	C			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr7:90377064T>C	ENST00000406263.1	+	3	742	c.300T>C	c.(298-300)taT>taC	p.Y100Y	CDK14_ENST00000265741.3_Silent_p.Y128Y|CDK14_ENST00000436577.2_Intron|CDK14_ENST00000380050.3_Silent_p.Y146Y			O94921	CDK14_HUMAN	cyclin-dependent kinase 14	146					cell division|G2/M transition of mitotic cell cycle|regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytoplasmic cyclin-dependent protein kinase holoenzyme complex|nucleus|plasma membrane	ATP binding|cyclin binding|cyclin-dependent protein kinase activity			breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(12)|ovary(1)|skin(4)	32						AAGGATCTTATGCTACAGTAT	0.338													17	58					0	0	1	0	0	C	90377064	T	C	90377064	2	2	211	1	0	0	0	0	0	0	0	1	3152	1471	51	3		3	CDK14	7	90377064	Silent	SNP	T	TCGA-FG-A4MW-01A-11D-A26M-08	35153497	90377064	68761599	26	25454											
PTCD1	26024	broad.mit.edu	37	7	99027240	99027240	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr7:99027240C>T	ENST00000292478.4	-	4	1034	c.784G>A	c.(784-786)Gac>Aac	p.D262N	ATP5J2-PTCD1_ENST00000413834.1_Missense_Mutation_p.D311N|PTCD1_ENST00000555673.1_Missense_Mutation_p.D311N|PTCD1_ENST00000485746.1_5'UTR	NM_015545.3	NP_056360.2			pentatricopeptide repeat domain 1											endometrium(5)|large_intestine(3)|lung(16)|ovary(2)|skin(1)	27	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)			ATCCTAAGGTCTGCGCACTTG	0.607													18	56					0	0	1	0	0	T	99027240	C	T	99027240	3	4	211	1	0	0	0	0	1	0	0	0	12776	913	32	2	1338	2	PTCD1	7	99027240	Missense_Mutation	SNP	C	TCGA-FG-A4MW-01A-11D-A26M-08	8650176	99027240	60111423	27	25455											
CTTNBP2	83992	broad.mit.edu	37	7	117424371	117424371	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr7:117424371C>T	ENST00000160373.3	-	5	2297	c.2206G>A	c.(2206-2208)Gac>Aac	p.D736N		NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	736										breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		TAATTAATGTCCAGTCCTTCT	0.478													31	105					0	0	1	0	0	T	117424371	C	T	117424371	3	4	211	1	0	0	0	0	1	0	0	0	4069	855	30	2	2861	2	CTTNBP2	7	117424371	Missense_Mutation	SNP	C	TCGA-FG-A4MW-01A-11D-A26M-08	18397131	117424371	41714292	28	25456											
TRPV5	56302	broad.mit.edu	37	7	142627452	142627452	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr7:142627452C>T	ENST00000265310.1	-	2	566	c.218G>A	c.(217-219)cGa>cAa	p.R73Q	TRPV5_ENST00000442623.1_Missense_Mutation_p.R73Q	NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	73					protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					ACCTCTTTGTCGAACGTCACA	0.512													23	56					0	0	1	0	0	T	142627452	C	T	142627452	3	4	211	1	0	0	0	0	1	0	0	0	16660	884	31	1	2027	1	TRPV5	7	142627452	Missense_Mutation	SNP	C	TCGA-FG-A4MW-01A-11D-A26M-08	25203081	142627452	16511211	29	25457											
ADAM28	10863	broad.mit.edu	37	8	24207446	24207446	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr8:24207446G>A	ENST00000265769.4	+	19	2170	c.2060G>A	c.(2059-2061)cGg>cAg	p.R687Q	RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000518988.1_RNA|RP11-624C23.1_ENST00000523700.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA|ADAM28_ENST00000397649.3_Silent_p.P435P	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28	687					proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		ATGGTAATCCGGCACCAGAGC	0.478													23	48					0	0	1	0	0	A	24207446	G	A	24207446	3	1	211	1	0	0	0	0	1	0	0	0	245	1116	39	1	2190	1	ADAM28	8	24207446	Missense_Mutation	SNP	G	TCGA-FG-A4MW-01A-11D-A26M-08		24207446	122156576	30	25458											
MAK16	84549	broad.mit.edu	37	8	33356082	33356082	+	Silent	SNP	C	C	A			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr8:33356082C>A	ENST00000360128.6	+	10	1295	c.838C>A	c.(838-840)Cga>Aga	p.R280R	TTI2_ENST00000519356.1_Intron	NM_032509.3	NP_115898.2	Q9BXY0	MAK16_HUMAN	MAK16 homolog (S. cerevisiae)	280						nucleolus				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|urinary_tract(1)	8						GCAGAGAAAACGAGCCTATGT	0.483													17	56					1.99824e-07	1.99824e-07	1	1	0	A	33356082	C	A	33356082	2	1	211	1	0	0	0	0	0	0	0	1	9248	528	19	5		5	MAK16	8	33356082	Silent	SNP	C	TCGA-FG-A4MW-01A-11D-A26M-08	9148636	33356082	113007940	31	25459											
VLDLR	7436	broad.mit.edu	37	9	2648302	2648302	+	Silent	SNP	G	G	A			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr9:2648302G>A	ENST00000382100.3	+	13	2273	c.1917G>A	c.(1915-1917)aaG>aaA	p.K639K	VLDLR_ENST00000382099.2_Silent_p.K639K	NM_003383.3	NP_003374.3	P98155	VLDLR_HUMAN	very low density lipoprotein receptor						cholesterol metabolic process|endocytosis|lipid transport|memory|very-low-density lipoprotein particle clearance	coated pit|integral to membrane|membrane fraction|plasma membrane|very-low-density lipoprotein particle	apolipoprotein binding|calcium ion binding|low-density lipoprotein receptor activity|very-low-density lipoprotein particle receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	24				GBM - Glioblastoma multiforme(50;0.0668)|Lung(218;0.123)		TAGTACTAAAGTCTCTGGAGT	0.408													3	30					0	0	1	0	0	A	2648302	G	A	2648302	2	1	211	1	0	0	0	0	0	0	0	1	17234	1020	36	2		2	VLDLR	9	2648302	Silent	SNP	G	TCGA-FG-A4MW-01A-11D-A26M-08		2648302	138565129	32	25460											
PRUNE2	158471	broad.mit.edu	37	9	79318755	79318758	+	Frame_Shift_Del	DEL	CTAA	CTAA	-			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr9:79318755_79318758delCTAA	ENST00000428286.1	-	9	7894_7897	c.6694_6697delTTAG	c.(6694-6699)ttagcafs	p.LA2232fs	PRUNE2_ENST00000376718.3_Frame_Shift_Del_p.LA2591fs			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	2591					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						GGGAAGCTTGCTAACTGAGTTCCC	0.417													14	44	---	---	---	---						-	79318758	CTAA	-	79318755	7	5	211	1	0	1	0	1	0	0	0	0	12690	797	28	0	1536	0	PRUNE2	9	79318755	Frame_Shift_Del	DEL	CTAA	TCGA-FG-A4MW-01A-11D-A26M-08	76670453	79318755	61894676	33	25461											
ASPN	54829	broad.mit.edu	37	9	95228797	95228797	+	Silent	SNP	G	G	A			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr9:95228797G>A	ENST00000375544.3	-	4	687	c.444C>T	c.(442-444)acC>acT	p.T148T	ASPN_ENST00000395538.3_Silent_p.T148T|CENPP_ENST00000375587.3_Intron|ASPN_ENST00000375543.1_Silent_p.T148T	NM_017680.4	NP_060150	Q9BXN1	ASPN_HUMAN	asporin	148					bone mineralization|negative regulation of tooth mineralization|negative regulation of transforming growth factor beta receptor signaling pathway	proteinaceous extracellular matrix	calcium ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	9						ACTTCTTTGTGGTTAGAAAGG	0.373													34	52					0	0	1	0	0	A	95228797	G	A	95228797	2	1	211	1	0	0	0	0	0	0	0	1	1056	1335	47	2		2	ASPN	9	95228797	Silent	SNP	G	TCGA-FG-A4MW-01A-11D-A26M-08	15910042	95228797	45984634	34	25462											
ENG	2022	broad.mit.edu	37	9	130587089	130587089	+	Silent	SNP	G	G	A			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr9:130587089G>A	ENST00000344849.3	-	7	1261	c.981C>T	c.(979-981)gcC>gcT	p.A327A	ENG_ENST00000373203.4_Silent_p.A327A|ENG_ENST00000480266.1_5'UTR			P17813	EGLN_HUMAN	endoglin	327					artery morphogenesis|BMP signaling pathway|cell adhesion|cell chemotaxis|central nervous system vasculogenesis|chronological cell aging|detection of hypoxia|extracellular matrix disassembly|heart looping|negative regulation of endothelial cell proliferation|negative regulation of nitric-oxide synthase activity|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of protein autophosphorylation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|patterning of blood vessels|positive regulation of BMP signaling pathway|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of systemic arterial blood pressure|positive regulation of transcription from RNA polymerase II promoter|regulation of cell adhesion|regulation of cell proliferation|regulation of transcription, DNA-dependent|regulation of transforming growth factor beta receptor signaling pathway|smooth muscle tissue development|transforming growth factor beta receptor signaling pathway|venous blood vessel morphogenesis|wound healing	cell surface|external side of plasma membrane|extracellular space|membrane fraction	activin binding|galactose binding|glycosaminoglycan binding|protein homodimerization activity|transforming growth factor beta binding|transforming growth factor beta receptor activity|transforming growth factor beta receptor, cytoplasmic mediator activity|transmembrane receptor activity|type I transforming growth factor beta receptor binding|type II transforming growth factor beta receptor binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	17						CGCAGCTGGAGGCATGAAGTG	0.617									Juvenile Polyposis;Hereditary Hemorrhagic Telangiectasia				9	8					0	0	1	0	0	A	130587089	G	A	130587089	2	1	211	1	0	0	0	0	0	0	0	1	5145	987	35	2		2	ENG	9	130587089	Silent	SNP	G	TCGA-FG-A4MW-01A-11D-A26M-08	35358292	130587089	10626342	35	25463											
OPN4	94233	broad.mit.edu	37	10	88418318	88418318	+	Missense_Mutation	SNP	C	C	T	rs143641898	byFrequency	TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr10:88418318C>T	ENST00000372071.2	+	5	762	c.535C>T	c.(535-537)Cgc>Tgc	p.R179C	OPN4_ENST00000241891.5_Missense_Mutation_p.R168C	NM_001030015.2	NP_001025186.1	Q9UHM6	OPN4_HUMAN	opsin 4	168					phototransduction|protein-chromophore linkage|regulation of circadian rhythm|rhythmic process|visual perception	integral to membrane|plasma membrane	11-cis retinal binding|G-protein coupled photoreceptor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(5)|ovary(3)	18						CGCCCTGGACCGCTACCTGGT	0.617													20	19					0	0	1	0	0	T	88418318	C	T	88418318	3	4	211	1	0	0	0	0	1	0	0	0	10930	652	23	1	553	1	OPN4	10	88418318	Missense_Mutation	SNP	C	TCGA-FG-A4MW-01A-11D-A26M-08		88418318	47116429	36	25464											
PTEN	5728	broad.mit.edu	37	10	89624256	89624256	+	Missense_Mutation	SNP	C	C	G			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr10:89624256C>G	ENST00000371953.3	+	1	1387	c.30C>G	c.(28-30)agC>agG	p.S10R		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	10			S -> N (retains phosphatase activity towards Ins(1,3,4,5)P4 and PtdIns(3,4,5)P3; retains the ability to bind phospholipid membranes).		activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.?(13)|p.I8_R14>LRLICIF(1)|p.A3fs*14(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		AGATCGTTAGCAGAAACAAAA	0.478		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			24	21					0	0	1	0	0	G	89624256	C	G	89624256	3	3	211	1	0	0	0	0	1	0	0	0	12787	709	25	5	32	5	PTEN	10	89624256	Missense_Mutation	SNP	C	TCGA-FG-A4MW-01A-11D-A26M-08	1205938	89624256	45910491	37	25465											
SYT9	143425	broad.mit.edu	37	11	7324401	7324401	+	Missense_Mutation	SNP	G	G	C			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr11:7324401G>C	ENST00000318881.6	+	2	514	c.277G>C	c.(277-279)Gac>Cac	p.D93H	SYT9_ENST00000396716.2_Missense_Mutation_p.D61H	NM_175733.3	NP_783860.1	Q86SS6	SYT9_HUMAN	synaptotagmin IX	93						cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			NS(1)|endometrium(2)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	38				Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)		TGGTAGCAAAGACAACAACCA	0.562													33	72					0	0	1	0	0	C	7324401	G	C	7324401	3	2	211	1	0	0	0	0	1	0	0	0	15538	942	33	4	283	4	SYT9	11	7324401	Missense_Mutation	SNP	G	TCGA-FG-A4MW-01A-11D-A26M-08		7324401	127682115	38	25466											
OR4A16	81327	broad.mit.edu	37	11	55110940	55110940	+	Silent	SNP	C	C	T			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr11:55110940C>T	ENST00000314721.2	+	1	314	c.264C>T	c.(262-264)atC>atT	p.I88I		NM_001005274.1	NP_001005274.1	Q8NH70	O4A16_HUMAN	olfactory receptor, family 4, subfamily A, member 16	88					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						GTGATAAAATCGCTATTTCCT	0.438													45	76					0	0	1	0	0	T	55110940	C	T	55110940	2	4	211	1	0	0	0	0	0	0	0	1	11089	874	31	1		1	OR4A16	11	55110940	Silent	SNP	C	TCGA-FG-A4MW-01A-11D-A26M-08	47786539	55110940	79895576	39	25467											
SLC22A25	387601	broad.mit.edu	37	11	62997040	62997040	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr11:62997040C>T	ENST00000306494.6	-	1	84	c.85G>A	c.(85-87)Gtc>Atc	p.V29I	SLC22A10_ENST00000525620.1_Intron|SLC22A10_ENST00000535888.1_Intron	NM_199352.3	NP_955384.3	Q6T423	S22AP_HUMAN	solute carrier family 22, member 25	29					transmembrane transport	integral to membrane				NS(2)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|skin(7)	34						TATACTATGACGTTGAACATT	0.458													13	30					0	0	1	0	0	T	62997040	C	T	62997040	3	4	211	1	0	0	0	0	1	0	0	0	14509	536	19	1	1594	1	SLC22A25	11	62997040	Missense_Mutation	SNP	C	TCGA-FG-A4MW-01A-11D-A26M-08	7886100	62997040	72009476	40	25468											
CCDC87	55231	broad.mit.edu	37	11	66358631	66358633	+	In_Frame_Del	DEL	TCT	TCT	-			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr11:66358631_66358633delTCT	ENST00000333861.3	-	1	1921_1923	c.1854_1856delAGA	c.(1852-1857)gaagag>gag	p.618_619EE>E		NM_018219.2	NP_060689.2	Q9NVE4	CCD87_HUMAN	coiled-coil domain containing 87	618										central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						CACAGGAACCTCTTCTTCATGCA	0.473													21	60	---	---	---	---						-	66358633	TCT	-	66358631	7	5	211	1	0	1	0	1	0	0	0	0	2882	1551	54	0	697	0	CCDC87	11	66358631	In_Frame_Del	DEL	TCT	TCGA-FG-A4MW-01A-11D-A26M-08	3361591	66358631	68647885	41	25469											
ADAMTS15	170689	broad.mit.edu	37	11	130343421	130343421	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr11:130343421C>T	ENST00000299164.2	+	8	2558	c.2558C>T	c.(2557-2559)gCg>gTg	p.A853V		NM_139055.2	NP_620686.1	Q8TE58	ATS15_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 15	853	TSP type-1 2.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1)	36	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)		CCGTGCTCCGCGAGCTGCGGC	0.726													17	38					0	0	1	0	0	T	130343421	C	T	130343421	3	4	211	1	0	0	0	0	1	0	0	0	259	768	27	1	2588	1	ADAMTS15	11	130343421	Missense_Mutation	SNP	C	TCGA-FG-A4MW-01A-11D-A26M-08	63984790	130343421	4663095	42	25470											
NFKBIA	4792	broad.mit.edu	37	14	35872895	35872895	+	Splice_Site	SNP	C	C	T			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr14:35872895C>T	ENST00000216797.5	-	2	438		c.e2+1		NFKBIA_ENST00000557389.1_Splice_Site|NFKBIA_ENST00000557140.1_Splice_Site|NFKBIA_ENST00000557100.1_Splice_Site	NM_020529.2	NP_065390.1	P25963	IKBA_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha						anti-apoptosis|apoptosis|cellular response to cold|cytoplasmic sequestering of NF-kappaB|innate immune response|interspecies interaction between organisms|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of DNA binding|negative regulation of lipid storage|negative regulation of macrophage derived foam cell differentiation|negative regulation of NF-kappaB transcription factor activity|nerve growth factor receptor signaling pathway|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|I-kappaB/NF-kappaB complex|nucleus|plasma membrane	identical protein binding|NF-kappaB binding|nuclear localization sequence binding|ubiquitin protein ligase binding			breast(3)|endometrium(1)|large_intestine(2)|liver(1)	7	Breast(36;0.0484)|Hepatocellular(127;0.158)		Lung(238;9.25e-06)|LUAD - Lung adenocarcinoma(48;1.53e-05)|Epithelial(34;0.00314)|all cancers(34;0.00891)	GBM - Glioblastoma multiforme(112;0.0222)		AAGCGGCGCACCTGCTGCAGG	0.567													4	7					0	0	1	0	0	T	35872895	C	T	35872895	5	4	211	1	0	0	0	0	0	0	1	0	10424	521	18	2	636	2	NFKBIA	14	35872895	Splice_Site	SNP	C	TCGA-FG-A4MW-01A-11D-A26M-08		35872895	71476645	43	25471											
SLC8A3	6547	broad.mit.edu	37	14	70515655	70515655	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr14:70515655C>T	ENST00000381269.2	-	7	2989	c.2236G>A	c.(2236-2238)Gtg>Atg	p.V746M	SLC8A3_ENST00000394330.2_Missense_Mutation_p.V103M|SLC8A3_ENST00000356921.2_Missense_Mutation_p.V740M|SLC8A3_ENST00000357887.3_Missense_Mutation_p.V744M|SLC8A3_ENST00000528359.1_Missense_Mutation_p.V744M|SLC8A3_ENST00000533541.1_Missense_Mutation_p.V103M|SLC8A3_ENST00000534137.1_Missense_Mutation_p.V743M|SLC8A3_ENST00000216568.7_Missense_Mutation_p.V117M	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	746					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		GTGGGGGGCACACAGGCAAAC	0.592													8	26					0	0	1	0	0	T	70515655	C	T	70515655	3	4	211	1	0	0	0	0	1	0	0	0	14763	478	17	2	555	2	SLC8A3	14	70515655	Missense_Mutation	SNP	C	TCGA-FG-A4MW-01A-11D-A26M-08	34642760	70515655	36833885	44	25472											
GOLGA5	9950	broad.mit.edu	37	14	93276685	93276685	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr14:93276685C>T	ENST00000163416.2	+	5	1335	c.1079C>T	c.(1078-1080)aCt>aTt	p.T360I	GOLGA5_ENST00000355976.2_Missense_Mutation_p.T360I	NM_005113.2	NP_005104	Q8TBA6	GOGA5_HUMAN	golgin A5	360					Golgi organization	cis-Golgi network|integral to membrane	ATP binding|protein homodimerization activity|protein tyrosine kinase activity|Rab GTPase binding			large_intestine(6)|lung(1)|ovary(2)	9		all_cancers(154;0.0934)		COAD - Colon adenocarcinoma(157;0.222)		GCGGATGCCACTCTGAAGAGA	0.433			T	RET	papillary thyroid								10	18					0	0	1	0	0	T	93276685	C	T	93276685	3	4	211	1	0	0	0	0	1	0	0	0	6598	565	20	2	1093	2	GOLGA5	14	93276685	Missense_Mutation	SNP	C	TCGA-FG-A4MW-01A-11D-A26M-08	22761030	93276685	14072855	45	25473											
SERPINA3	12	broad.mit.edu	37	14	95090030	95090030	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr14:95090030C>T	ENST00000467132.1	+	5	2299	c.1151C>T	c.(1150-1152)tCt>tTt	p.S384F	RP11-986E7.7_ENST00000553947.1_3'UTR|SERPINA3_ENST00000482740.1_Missense_Mutation_p.S166F|SERPINA3_ENST00000393078.3_Missense_Mutation_p.S384F|SERPINA3_ENST00000393080.4_Missense_Mutation_p.S384F			P01011	AACT_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3	384	RCL.	Reactive bond.			acute-phase response|maintenance of gastrointestinal epithelium|regulation of lipid metabolic process|regulation of proteolysis	extracellular region|nucleus	DNA binding|protein binding|serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(17)|ovary(2)|pancreas(1)|skin(3)|stomach(1)	40		all_cancers(154;0.0525)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228)		ACCCTCCTTTCTGCATTAGTG	0.498													33	54					0	0	1	0	0	T	95090030	C	T	95090030	3	4	211	1	0	0	0	0	1	0	0	0	14144	913	32	2	1165	2	SERPINA3	14	95090030	Missense_Mutation	SNP	C	TCGA-FG-A4MW-01A-11D-A26M-08	1813345	95090030	12259510	46	25474											
MYO5C	55930	broad.mit.edu	37	15	52534268	52534268	+	Silent	SNP	G	G	A			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr15:52534268G>A	ENST00000261839.7	-	20	2694	c.2533C>T	c.(2533-2535)Ctg>Ttg	p.L845L	MYO5C_ENST00000443683.2_Intron	NM_018728.3	NP_061198.2	Q9NQX4	MYO5C_HUMAN	myosin VC	845	IQ 4.					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		CTCCTTGCCAGGAATCCTCGG	0.537													53	44					0	0	1	0	0	A	52534268	G	A	52534268	2	1	211	1	0	0	0	0	0	0	0	1	10128	991	35	2		2	MYO5C	15	52534268	Silent	SNP	G	TCGA-FG-A4MW-01A-11D-A26M-08		52534268	49997124	47	25475											
TLN2	83660	broad.mit.edu	37	15	63032969	63032969	+	Splice_Site	SNP	G	G	A			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr15:63032969G>A	ENST00000561311.1	+	31	4255		c.e31+1		TLN2_ENST00000306829.6_Splice_Site			Q9Y4G6	TLN2_HUMAN	talin 2						cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						CAGCTGCAAGGTAGGAGTGGG	0.493													11	11					0	0	1	0	0	A	63032969	G	A	63032969	5	1	211	1	0	0	0	0	0	0	1	0	16008	1275	44	2	4140	2	TLN2	15	63032969	Splice_Site	SNP	G	TCGA-FG-A4MW-01A-11D-A26M-08	10498701	63032969	39498423	48	25476											
STOML1	9399	broad.mit.edu	37	15	74281475	74281475	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr15:74281475G>A	ENST00000316900.5	-	3	488	c.364C>T	c.(364-366)Cga>Tga	p.R122*	STOML1_ENST00000561656.1_Nonsense_Mutation_p.R35*|STOML1_ENST00000359750.4_Nonsense_Mutation_p.R122*|STOML1_ENST00000316911.6_Intron|STOML1_ENST00000564777.1_Intron|STOML1_ENST00000541638.1_Nonsense_Mutation_p.R80*	NM_001256672.1|NM_001256675.1|NM_001256677.1|NM_004809.4	NP_001243601.1|NP_001243604.1|NP_001243606.1|NP_004800.2	Q9UBI4	STML1_HUMAN	stomatin (EPB72)-like 1	122						integral to membrane	sterol binding			endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	8						TTGAAGGCTCGTGTCCTCAGA	0.602													3	22					0	0	1	0	0	A	74281475	G	A	74281475	4	1	211	1	0	0	0	0	0	1	0	0	15369	1153	40	1	852	1	STOML1	15	74281475	Nonsense_Mutation	SNP	G	TCGA-FG-A4MW-01A-11D-A26M-08	11248506	74281475	28249917	49	25477											
NTN3	4917	broad.mit.edu	37	16	2522817	2522817	+	Silent	SNP	C	C	T			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr16:2522817C>T	ENST00000293973.1	+	2	1247	c.1044C>T	c.(1042-1044)cgC>cgT	p.R348R		NM_006181.2	NP_006172.1	O00634	NET3_HUMAN	netrin 3	348	Laminin EGF-like 2.				axon guidance|muscle cell differentiation|positive regulation of muscle cell differentiation	proteinaceous extracellular matrix				breast(1)|central_nervous_system(2)|lung(3)|prostate(1)	7						CCGCCGGCCGCCACTGCCACT	0.701													17	11					0	0	1	0	0	T	2522817	C	T	2522817	2	4	211	1	0	0	0	0	0	0	0	1	10749	726	26	2		2	NTN3	16	2522817	Silent	SNP	C	TCGA-FG-A4MW-01A-11D-A26M-08		2522817	87831936	50	25478											
ATF7IP2	80063	broad.mit.edu	37	16	10574741	10574741	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr16:10574741C>T	ENST00000396560.2	+	11	1782	c.1555C>T	c.(1555-1557)Cca>Tca	p.P519S	ATF7IP2_ENST00000356427.2_Missense_Mutation_p.P519S|ATF7IP2_ENST00000543967.1_Missense_Mutation_p.P63S|ATF7IP2_ENST00000396559.1_Silent_p.V496V|ATF7IP2_ENST00000324570.5_Silent_p.V496V	NM_024997.3	NP_079273.2	Q5U623	MCAF2_HUMAN	activating transcription factor 7 interacting protein 2	519					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				large_intestine(3)	3						CACAGAAAGTCCAGTATCCCC	0.388													19	48					0	0	1	0	0	T	10574741	C	T	10574741	3	4	211	1	0	0	0	0	1	0	0	0	1087	855	30	2	1589	2	ATF7IP2	16	10574741	Missense_Mutation	SNP	C	TCGA-FG-A4MW-01A-11D-A26M-08	8051924	10574741	79780012	51	25479											
CDH8	1006	broad.mit.edu	37	16	62055202	62055202	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr16:62055202G>A	ENST00000577390.1	-	2	1060	c.106C>T	c.(106-108)Caa>Taa	p.Q36*	CDH8_ENST00000584337.1_Nonsense_Mutation_p.Q36*|CDH8_ENST00000299345.6_Nonsense_Mutation_p.Q36*|CDH8_ENST00000577730.1_Nonsense_Mutation_p.Q36*	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	36					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		ATTAAAACTTGAGACTGATTC	0.428													8	22					0	0	1	0	0	A	62055202	G	A	62055202	4	1	211	1	0	0	0	0	0	1	0	0	3138	1299	45	2	2337	2	CDH8	16	62055202	Nonsense_Mutation	SNP	G	TCGA-FG-A4MW-01A-11D-A26M-08	51480461	62055202	28299551	52	25480	125	2									
CDH8	1006	broad.mit.edu	37	16	62055208	62055208	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr16:62055208G>A	ENST00000577390.1	-	2	1054	c.100C>T	c.(100-102)Cag>Tag	p.Q34*	CDH8_ENST00000584337.1_Nonsense_Mutation_p.Q34*|CDH8_ENST00000299345.6_Nonsense_Mutation_p.Q34*|CDH8_ENST00000577730.1_Nonsense_Mutation_p.Q34*	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	34					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		ACTTGAGACTGATTCATCGGA	0.443													9	20					0	0	1	0	0	A	62055208	G	A	62055208	4	1	211	1	0	0	0	0	0	1	0	0	3138	1299	45	2	2343	2	CDH8	16	62055208	Nonsense_Mutation	SNP	G	TCGA-FG-A4MW-01A-11D-A26M-08	6	62055208	28299545	53	25481	125	2									
PMFBP1	83449	broad.mit.edu	37	16	72166638	72166638	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr16:72166638G>A	ENST00000537465.1	-	10	1614	c.1456C>T	c.(1456-1458)Cct>Tct	p.P486S	PMFBP1_ENST00000237353.10_Intron|PMFBP1_ENST00000355636.6_Intron			Q8TBY8	PMFBP_HUMAN	polyamine modulated factor 1 binding protein 1	486										NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45		Ovarian(137;0.179)				GCACCTGCAGGGGCCTCACCA	0.632													12	45					0	0	1	0	0	A	72166638	G	A	72166638	3	1	211	1	0	0	0	0	1	0	0	0	12182	1247	43	2		2	PMFBP1	16	72166638	Missense_Mutation	SNP	G	TCGA-FG-A4MW-01A-11D-A26M-08	10111430	72166638	18188115	54	25482											
PLCG2	5336	broad.mit.edu	37	16	81925184	81925184	+	Silent	SNP	G	G	A			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr16:81925184G>A	ENST00000359376.3	+	11	1189	c.975G>A	c.(973-975)tcG>tcA	p.S325S		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	325	PI-PLC X-box.				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						GGATCTCCTCGTCACATAACA	0.552													5	9					0	0	1	0	0	A	81925184	G	A	81925184	2	1	211	1	0	0	0	0	0	0	0	1	12084	1132	40	1		1	PLCG2	16	81925184	Silent	SNP	G	TCGA-FG-A4MW-01A-11D-A26M-08	9758546	81925184	8429569	55	25483											
PLCG2	5336	broad.mit.edu	37	16	81953229	81953229	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr16:81953229G>A	ENST00000359376.3	+	20	2409	c.2195G>A	c.(2194-2196)cGc>cAc	p.R732H		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	732	SH2 2.				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						ATGAGACTGCGCTACCCCGTG	0.537													26	39					0	0	1	0	0	A	81953229	G	A	81953229	3	1	211	1	0	0	0	0	1	0	0	0	12084	1087	38	1	2269	1	PLCG2	16	81953229	Missense_Mutation	SNP	G	TCGA-FG-A4MW-01A-11D-A26M-08	28045	81953229	8401524	56	25484											
HSD17B2	3294	broad.mit.edu	37	16	82104638	82104638	+	Silent	SNP	C	C	T			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr16:82104638C>T	ENST00000199936.4	+	3	763	c.570C>T	c.(568-570)gcC>gcT	p.A190A	RP11-510J16.5_ENST00000567021.1_RNA	NM_002153.2	NP_002144.1	P37059	DHB2_HUMAN	hydroxysteroid (17-beta) dehydrogenase 2	190					response to retinoic acid|steroid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	17-alpha,20-alpha-dihydroxypregn-4-en-3-one dehydrogenase activity|binding|estradiol 17-beta-dehydrogenase activity|testosterone 17-beta-dehydrogenase (NAD+) activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	10					NADH(DB00157)	AATGCATGGCCGTGAACTTCT	0.488													16	40					0	0	1	0	0	T	82104638	C	T	82104638	2	4	211	1	0	0	0	0	0	0	0	1	7425	639	23	1		1	HSD17B2	16	82104638	Silent	SNP	C	TCGA-FG-A4MW-01A-11D-A26M-08	151409	82104638	8250115	57	25485											
MYH2	4620	broad.mit.edu	37	17	10430103	10430103	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr17:10430103C>T	ENST00000245503.5	-	30	4384	c.4000G>A	c.(4000-4002)Gcc>Acc	p.A1334T	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.A1334T|RP11-799N11.1_ENST00000399342.2_RNA|MYH2_ENST00000532183.2_Intron	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1334					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						TGCGCCAGGGCGTTCTTGGCC	0.493													25	42					0	0	1	0	0	T	10430103	C	T	10430103	3	4	211	1	0	0	0	0	1	0	0	0	10083	768	27	1	1869	1	MYH2	17	10430103	Missense_Mutation	SNP	C	TCGA-FG-A4MW-01A-11D-A26M-08		10430103	70765107	58	25486											
FOXN1	8456	broad.mit.edu	37	17	26864332	26864332	+	Missense_Mutation	SNP	G	G	C			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr17:26864332G>C	ENST00000226247.2	+	8	1854	c.1825G>C	c.(1825-1827)Ggt>Cgt	p.G609R	FOXN1_ENST00000579795.1_Missense_Mutation_p.G609R	NM_003593.2	NP_003584.2	O15353	FOXN1_HUMAN	forkhead box N1	609					defense response|embryo development|epithelial cell proliferation|keratinocyte differentiation|organ morphogenesis|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|thymus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Lung NSC(42;0.00431)					CGGGGCACTGGGTGACCTGCA	0.687													17	31					0	0	1	0	0	C	26864332	G	C	26864332	3	2	211	1	0	0	0	0	1	0	0	0	6053	1232	43	5	1855	5	FOXN1	17	26864332	Missense_Mutation	SNP	G	TCGA-FG-A4MW-01A-11D-A26M-08	16434229	26864332	54330878	59	25487											
EFCAB3	146779	broad.mit.edu	37	17	60483969	60483969	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr17:60483969C>T	ENST00000450662.2	+	9	844	c.773C>T	c.(772-774)gCt>gTt	p.A258V	EFCAB3_ENST00000305286.3_Missense_Mutation_p.A206V	NM_001144933.1	NP_001138405.1	Q8N7B9	EFCB3_HUMAN	EF-hand calcium binding domain 3	206							calcium ion binding			cervix(1)|endometrium(2)|large_intestine(5)|lung(6)|skin(3)	17			BRCA - Breast invasive adenocarcinoma(2;2.27e-11)			GCTGCCTTTGCTAATGCTGCC	0.428													18	34					0	0	1	0	0	T	60483969	C	T	60483969	3	4	211	1	0	0	0	0	1	0	0	0	4961	797	28	2	807	2	EFCAB3	17	60483969	Missense_Mutation	SNP	C	TCGA-FG-A4MW-01A-11D-A26M-08	33619637	60483969	20711241	60	25488											
DDX42	11325	broad.mit.edu	37	17	61864442	61864442	+	Silent	SNP	G	G	A			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr17:61864442G>A	ENST00000578681.1	+	3	634	c.33G>A	c.(31-33)aaG>aaA	p.K11K	DDX42_ENST00000359353.5_Intron|DDX42_ENST00000457800.2_Silent_p.K11K|DDX42_ENST00000389924.2_Silent_p.K11K|DDX42_ENST00000583590.1_Silent_p.K11K	NM_007372.2	NP_031398.2	Q86XP3	DDX42_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 42	11					protein localization|regulation of anti-apoptosis	Cajal body|cytoplasm|nuclear speck	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)	46						CTGGCACTAAGCGAGGATTTG	0.448													40	88					0	0	1	0	0	A	61864442	G	A	61864442	2	1	211	1	0	0	0	0	0	0	0	1	4385	962	34	2		2	DDX42	17	61864442	Silent	SNP	G	TCGA-FG-A4MW-01A-11D-A26M-08	1380473	61864442	19330768	61	25489											
ARSG	22901	broad.mit.edu	37	17	66391215	66391215	+	Splice_Site	SNP	G	G	A			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr17:66391215G>A	ENST00000448504.2	+	10	1889	c.1093G>A	c.(1093-1095)Gtg>Atg	p.V365M	ARSG_ENST00000582154.1_3'UTR|ARSG_ENST00000452479.2_Splice_Site_p.V201M	NM_014960.4	NP_055775.2	Q96EG1	ARSG_HUMAN	arylsulfatase G	365					sulfur compound metabolic process	endoplasmic reticulum|extracellular space|lysosome	arylsulfatase activity|metal ion binding			NS(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	26			BRCA - Breast invasive adenocarcinoma(8;5.34e-07)|LUSC - Lung squamous cell carcinoma(166;0.24)			TTTCCGCAGCGTGCTGGACAT	0.597													16	26					0	0	1	0	0	A	66391215	G	A	66391215	5	1	211	1	0	0	0	0	0	0	1	0	991	1159	40	1	1127	1	ARSG	17	66391215	Splice_Site	SNP	G	TCGA-FG-A4MW-01A-11D-A26M-08	4526773	66391215	14803995	62	25490											
TIMP2	7077	broad.mit.edu	37	17	76851869	76851869	+	Silent	SNP	C	C	T			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr17:76851869C>T	ENST00000262768.7	-	5	841	c.543G>A	c.(541-543)aaG>aaA	p.K181K	TIMP2_ENST00000586057.1_Silent_p.K104K|RP11-323N12.5_ENST00000587434.1_RNA|TIMP2_ENST00000585421.1_Silent_p.K104K|TIMP2_ENST00000536189.2_Silent_p.K104K	NM_003255.4	NP_003246.1	P16035	TIMP2_HUMAN	TIMP metallopeptidase inhibitor 2	181							metal ion binding|metalloendopeptidase inhibitor activity			central_nervous_system(2)	2			BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.194)			CGTTGATGTTCTTCTCTGTGA	0.642													30	52					0	0	1	0	0	T	76851869	C	T	76851869	2	4	211	1	0	0	0	0	0	0	0	1	15978	912	32	2		2	TIMP2	17	76851869	Silent	SNP	C	TCGA-FG-A4MW-01A-11D-A26M-08	10460654	76851869	4343341	63	25491											
AQP4	361	broad.mit.edu	37	18	24445621	24445621	+	Splice_Site	SNP	C	C	A			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr18:24445621C>A	ENST00000383168.4	-	1	161		c.e1+1		AQP4-AS1_ENST00000582605.1_RNA|AQP4-AS1_ENST00000579964.1_RNA|AQP4-AS1_ENST00000568797.1_RNA|AQP4-AS1_ENST00000578701.1_RNA	NM_001650.4|NM_004028.3	NP_001641.1|NP_004019.1	P55087	AQP4_HUMAN	aquaporin 4						cellular response to interferon-gamma|excretion|nervous system development	cytoplasm|external side of plasma membrane|integral to plasma membrane	water channel activity			kidney(2)|large_intestine(3)|lung(5)|skin(1)	11	all_cancers(21;0.0172)|Lung NSC(5;0.00299)|all_lung(6;0.00747)|Ovarian(20;0.124)					GAAGGACTTACCCCCACCGCC	0.517													21	90					6.21321e-17	6.55089e-17	1	1	0	A	24445621	C	A	24445621	5	1	211	1	0	0	0	0	0	0	1	0	825	521	18	5	958	5	AQP4	18	24445621	Splice_Site	SNP	C	TCGA-FG-A4MW-01A-11D-A26M-08		24445621	53631627	64	25492											
FHOD3	80206	broad.mit.edu	37	18	34156464	34156464	+	Missense_Mutation	SNP	C	C	T	rs143579901	byFrequency	TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr18:34156464C>T	ENST00000257209.4	+	6	684	c.562C>T	c.(562-564)Cgc>Tgc	p.R188C	FHOD3_ENST00000590592.1_Missense_Mutation_p.R188C|FHOD3_ENST00000359247.4_Missense_Mutation_p.R188C|FHOD3_ENST00000591635.1_5'UTR|FHOD3_ENST00000445677.1_Missense_Mutation_p.R188C	NM_025135.2	NP_079411.2	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	188	GBD/FH3.				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				AGTAATAAACCGCAATGAAAC	0.373													17	23					0	0	1	0	0	T	34156464	C	T	34156464	3	4	211	1	0	0	0	0	1	0	0	0	5916	652	23	1	584	1	FHOD3	18	34156464	Missense_Mutation	SNP	C	TCGA-FG-A4MW-01A-11D-A26M-08	9710843	34156464	43920784	65	25493											
SEC11C	90701	broad.mit.edu	37	18	56816768	56816768	+	Silent	SNP	C	C	T			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr18:56816768C>T	ENST00000587834.1	+	2	583	c.111C>T	c.(109-111)ttC>ttT	p.F37F	SEC11C_ENST00000588875.1_Silent_p.F37F	NM_033280.2	NP_150596.1	Q9BY50	SC11C_HUMAN	SEC11 homolog C (S. cerevisiae)	37					energy reserve metabolic process|regulation of insulin secretion|signal peptide processing	endoplasmic reticulum membrane|integral to membrane|microsome	serine-type peptidase activity			endometrium(1)|large_intestine(4)|liver(2)|lung(2)	9		Colorectal(73;0.175)				TTTTAAACTTCGCCATGATCG	0.493													32	59					0	0	1	0	0	T	56816768	C	T	56816768	2	4	211	1	0	0	0	0	0	0	0	1	14033	883	31	1		1	SEC11C	18	56816768	Silent	SNP	C	TCGA-FG-A4MW-01A-11D-A26M-08	22660304	56816768	21260480	66	25494											
SERPINB7	8710	broad.mit.edu	37	18	61449715	61449715	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr18:61449715G>A	ENST00000398019.2	+	2	434	c.109G>A	c.(109-111)Gct>Act	p.A37T	SERPINB7_ENST00000540675.1_Missense_Mutation_p.A37T|SERPINB7_ENST00000336429.2_Missense_Mutation_p.A37T|SERPINB7_ENST00000546027.1_Missense_Mutation_p.A37T	NM_003784.3	NP_003775.1	O75635	SPB7_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 7	37					regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	27		Esophageal squamous(42;0.129)				GAGCCTCTTCGCTGCCCTGGC	0.483													16	31					0	0	1	0	0	A	61449715	G	A	61449715	3	1	211	1	0	0	0	0	1	0	0	0	14160	1087	38	1	111	1	SERPINB7	18	61449715	Missense_Mutation	SNP	G	TCGA-FG-A4MW-01A-11D-A26M-08	4632947	61449715	16627533	67	25495											
ZNF236	7776	broad.mit.edu	37	18	74667996	74667996	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr18:74667996G>A	ENST00000253159.8	+	28	5162	c.4964G>A	c.(4963-4965)cGg>cAg	p.R1655Q	ZNF236_ENST00000320610.9_Missense_Mutation_p.R1657Q	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	1655					cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		AAGGAGGGCCGGGCGCACCAG	0.637													6	10					0	0	1	0	0	A	74667996	G	A	74667996	3	1	211	1	0	0	0	0	1	0	0	0	17847	1116	39	1	5074	1	ZNF236	18	74667996	Missense_Mutation	SNP	G	TCGA-FG-A4MW-01A-11D-A26M-08	13218281	74667996	3409252	68	25496											
ABCA7	10347	broad.mit.edu	37	19	1053821	1053821	+	Missense_Mutation	SNP	A	A	C			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr19:1053821A>C	ENST00000263094.6	+	25	3689	c.3458A>C	c.(3457-3459)gAc>gCc	p.D1153A	ABCA7_ENST00000433129.1_Missense_Mutation_p.D1153A|ABCA7_ENST00000435683.2_Missense_Mutation_p.D1015A	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	1153					phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity			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)		TGTGCTGCGGACACAGATATG	0.637													18	79					0	0	1	0	0	C	1053821	A	C	1053821	3	2	211	1	0	0	0	0	1	0	0	0	37	275	10	5	3552	5	ABCA7	19	1053821	Missense_Mutation	SNP	A	TCGA-FG-A4MW-01A-11D-A26M-08		1053821	58075162	69	25497											
ATP8B3	148229	broad.mit.edu	37	19	1785489	1785489	+	Silent	SNP	G	G	A			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr19:1785489G>A	ENST00000539485.1	-	26	3635	c.3402C>T	c.(3400-3402)tgC>tgT	p.C1134C	ATP8B3_ENST00000310127.6_Silent_p.C1124C|ATP8B3_ENST00000525591.1_Silent_p.C1087C			O60423	AT8B3_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 3	1124					ATP biosynthetic process		ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23		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)		TGGACAGCAGGCAAGACAGGG	0.647													6	30					0	0	1	0	0	A	1785489	G	A	1785489	2	1	211	1	0	0	0	0	0	0	0	1	1194	1195	42	2		2	ATP8B3	19	1785489	Silent	SNP	G	TCGA-FG-A4MW-01A-11D-A26M-08	731668	1785489	57343494	70	25498											
KANK3	256949	broad.mit.edu	37	19	8389602	8389602	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr19:8389602G>A	ENST00000330915.3	-	9	2260	c.2195C>T	c.(2194-2196)gCg>gTg	p.A732V	KANK3_ENST00000593649.1_Missense_Mutation_p.A732V	NM_198471.2	NP_940873.2	Q6NY19	KANK3_HUMAN	KN motif and ankyrin repeat domains 3	732										breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	9						ACACATCAGCGCTGTGGCCCC	0.637													20	54					0	0	1	0	0	A	8389602	G	A	8389602	3	1	211	1	0	0	0	0	1	0	0	0	8022	1087	38	1	282	1	KANK3	19	8389602	Missense_Mutation	SNP	G	TCGA-FG-A4MW-01A-11D-A26M-08	6604113	8389602	50739381	71	25499											
OR7C2	26658	broad.mit.edu	37	19	15052351	15052351	+	Silent	SNP	C	C	T			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr19:15052351C>T	ENST00000248072.3	+	1	51	c.51C>T	c.(49-51)ttC>ttT	p.F17F		NM_012377.1	NP_036509.1	O60412	OR7C2_HUMAN	olfactory receptor, family 7, subfamily C, member 2	17					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|lung(8)|ovary(2)|skin(2)	15	Ovarian(108;0.203)					TCCTGGGATTCGCAGAGGACT	0.498													26	82					0	0	1	0	0	T	15052351	C	T	15052351	2	4	211	1	0	0	0	0	0	0	0	1	11265	883	31	1		1	OR7C2	19	15052351	Silent	SNP	C	TCGA-FG-A4MW-01A-11D-A26M-08	6662749	15052351	44076632	72	25500											
ZNF492	57615	broad.mit.edu	37	19	22847685	22847685	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr19:22847685C>T	ENST00000456783.2	+	4	1458	c.1214C>T	c.(1213-1215)tCg>tTg	p.S405L		NM_020855.2	NP_065906.1	Q9P255	ZN492_HUMAN	zinc finger protein 492	405					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)				TTTAACCTATCGTCACAACTT	0.383													8	49					0	0	1	0	0	T	22847685	C	T	22847685	3	4	211	1	0	0	0	0	1	0	0	0	18000	893	31	1	1224	1	ZNF492	19	22847685	Missense_Mutation	SNP	C	TCGA-FG-A4MW-01A-11D-A26M-08	7795334	22847685	36281298	73	25501											
ATP4A	495	broad.mit.edu	37	19	36046393	36046393	+	Silent	SNP	C	C	T	rs143513836	byFrequency	TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr19:36046393C>T	ENST00000262623.3	-	14	2134	c.2106G>A	c.(2104-2106)gcG>gcA	p.A702A		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	702					ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)	GGCTGGTGCGCGCAAACACCA	0.667													10	32					0	0	1	0	0	T	36046393	C	T	36046393	2	4	211	1	0	0	0	0	0	0	0	1	1144	755	27	1		1	ATP4A	19	36046393	Silent	SNP	C	TCGA-FG-A4MW-01A-11D-A26M-08	13198708	36046393	23082590	74	25502											
ZNF540	163255	broad.mit.edu	37	19	38103617	38103617	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr19:38103617G>A	ENST00000592533.1	+	5	1768	c.1436G>A	c.(1435-1437)cGt>cAt	p.R479H	ZNF540_ENST00000589117.1_Missense_Mutation_p.R447H|ZNF540_ENST00000343599.5_Missense_Mutation_p.R479H|ZNF540_ENST00000316433.4_Missense_Mutation_p.R479H	NM_152606.4	NP_689819.1			zinc finger protein 540											breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(13)|lung(8)|skin(1)	28			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TTTCGAGTTCGTTCTCAAATT	0.398													17	44					0	0	1	0	0	A	38103617	G	A	38103617	3	1	211	1	0	0	0	0	1	0	0	0	18032	1145	40	1	1450	1	ZNF540	19	38103617	Missense_Mutation	SNP	G	TCGA-FG-A4MW-01A-11D-A26M-08	2057224	38103617	21025366	75	25503											
PRX	57716	broad.mit.edu	37	19	40900042	40900043	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr19:40900042_40900043delTT	ENST00000324001.7	-	7	4486_4487	c.4216_4217delAA	c.(4216-4218)aagfs	p.K1406fs	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	1406					axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CTTGGGTGACTTCTCTCTGACG	0.688													39	130	---	---	---	---						-	40900043	TT	-	40900042	7	5	211	1	0	1	0	1	0	0	0	0	12691	1609	56	0	172	0	PRX	19	40900042	Frame_Shift_Del	DEL	TT	TCGA-FG-A4MW-01A-11D-A26M-08	2796425	40900042	18228941	76	25504											
SNRPA	6626	broad.mit.edu	37	19	41268829	41268829	+	Silent	SNP	G	G	A			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr19:41268829G>A	ENST00000243563.3	+	4	1000	c.450G>A	c.(448-450)gcG>gcA	p.A150A		NM_004596.4	NP_004587.1	P09012	SNRPA_HUMAN	small nuclear ribonucleoprotein polypeptide A	150	Pro-rich.					nucleoplasm|spliceosomal complex	nucleotide binding|protein binding|RNA binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)	10			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			TGACTCAGGCGCCCCGCATTA	0.657													11	24					0	0	1	0	0	A	41268829	G	A	41268829	2	1	211	1	0	0	0	0	0	0	0	1	14913	1074	38	1		1	SNRPA	19	41268829	Silent	SNP	G	TCGA-FG-A4MW-01A-11D-A26M-08	368787	41268829	17860154	77	25505											
ZNF226	7769	broad.mit.edu	37	19	44681060	44681060	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr19:44681060C>T	ENST00000590089.1	+	7	2012	c.1645C>T	c.(1645-1647)Cat>Tat	p.H549Y	ZNF226_ENST00000454662.2_Missense_Mutation_p.H549Y|ZNF226_ENST00000337433.5_Missense_Mutation_p.H549Y|ZNF226_ENST00000588883.1_3'UTR			Q9NYT6	ZN226_HUMAN	zinc finger protein 226	549					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						Prostate(69;0.0352)|all_neural(266;0.202)				TCTTCAAATCCATCAGAAGGC	0.443													30	99					0	0	1	0	0	T	44681060	C	T	44681060	3	4	211	1	0	0	0	0	1	0	0	0	17838	594	21	2	1713	2	ZNF226	19	44681060	Missense_Mutation	SNP	C	TCGA-FG-A4MW-01A-11D-A26M-08	3412231	44681060	14447923	78	25506											
ISM1	140862	broad.mit.edu	37	20	13280078	13280078	+	Missense_Mutation	SNP	A	A	G			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr20:13280078A>G	ENST00000262487.4	+	6	1373	c.1367A>G	c.(1366-1368)aAg>aGg	p.K456R	TASP1_ENST00000539805.1_Intron	NM_080826.1	NP_543016.1	B1AKI9	ISM1_HUMAN	isthmin 1, angiogenesis inhibitor							extracellular region				NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(8)|lung(5)|urinary_tract(1)	17						GACTACATCAAGCAGTTCCAA	0.567													30	52					0	0	1	0	0	G	13280078	A	G	13280078	3	3	211	1	0	0	0	0	1	0	0	0	7904	72	3	3	1389	3	ISM1	20	13280078	Missense_Mutation	SNP	A	TCGA-FG-A4MW-01A-11D-A26M-08		13280078	49745442	79	25507											
RIN2	54453	broad.mit.edu	37	20	19945627	19945627	+	Silent	SNP	C	C	T			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr20:19945627C>T	ENST00000255006.6	+	6	791	c.642C>T	c.(640-642)ttC>ttT	p.F214F	RIN2_ENST00000484638.1_Intron|RIN2_ENST00000440354.2_Intron	NM_001242581.1|NM_018993.3	NP_001229510.1|NP_061866.1	Q8WYP3	RIN2_HUMAN	Ras and Rab interactor 2	165					endocytosis|small GTPase mediated signal transduction	cytoplasm	GTPase activator activity|Rab guanyl-nucleotide exchange factor activity			autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	27						GAATCAGTTTCGCAGATTTAT	0.478													23	59					0	0	1	0	0	T	19945627	C	T	19945627	2	4	211	1	0	0	0	0	0	0	0	1	13424	883	31	1		1	RIN2	20	19945627	Silent	SNP	C	TCGA-FG-A4MW-01A-11D-A26M-08	6665549	19945627	43079893	80	25508											
CABIN1	23523	broad.mit.edu	37	22	24451502	24451502	+	Missense_Mutation	SNP	A	A	G			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr22:24451502A>G	ENST00000398319.2	+	9	1358	c.973A>G	c.(973-975)Agc>Ggc	p.S325G	CABIN1_ENST00000405822.2_Missense_Mutation_p.S275G|CABIN1_ENST00000263119.5_Missense_Mutation_p.S325G	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	325					cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						GATCCAGCCAAGCACTGTCAG	0.577													25	67					0	0	1	0	0	G	24451502	A	G	24451502	3	3	211	1	0	0	0	0	1	0	0	0	2546	72	3	3	1003	3	CABIN1	22	24451502	Missense_Mutation	SNP	A	TCGA-FG-A4MW-01A-11D-A26M-08		24451502	26853064	81	25509											
MYO18B	84700	broad.mit.edu	37	22	26164406	26164406	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr22:26164406G>A	ENST00000335473.7	+	4	773	c.523G>A	c.(523-525)Gcc>Acc	p.A175T	MYO18B_ENST00000536101.1_Missense_Mutation_p.A175T|MYO18B_ENST00000407587.2_Missense_Mutation_p.A175T	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	175						nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						TCCCCATGACGCCCCCCCTTG	0.597													3	10					0	0	1	0	0	A	26164406	G	A	26164406	3	1	211	1	0	0	0	0	1	0	0	0	10114	1087	38	1	533	1	MYO18B	22	26164406	Missense_Mutation	SNP	G	TCGA-FG-A4MW-01A-11D-A26M-08	1712904	26164406	25140160	82	25510											
KIAA1210	57481	broad.mit.edu	37	X	118284501	118284501	+	Silent	SNP	G	G	A			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chrX:118284501G>A	ENST00000402510.2	-	1	41	c.42C>T	c.(40-42)caC>caT	p.H14H		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	14										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						GGAGAGAAGCGTGAAAGGCAG	0.642													47	17					0	0	1	0	0	A	118284501	G	A	118284501	2	1	211	1	0	0	0	0	0	0	0	1	8256	1136	40	1		1	KIAA1210	23	118284501	Silent	SNP	G	TCGA-FG-A4MW-01A-11D-A26M-08		118284501	36986059	83	25511											
CUL4B	8450	broad.mit.edu	37	X	119678463	119678465	+	In_Frame_Del	DEL	ATA	ATA	-	rs144312827		TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chrX:119678463_119678465delATA	ENST00000371322.5	-	6	1015_1017	c.954_956delTAT	c.(952-957)attata>ata	p.318_319II>I	CUL4B_ENST00000336592.6_In_Frame_Del_p.323_324II>I|CUL4B_ENST00000404115.3_In_Frame_Del_p.336_337II>I	NM_001079872.1	NP_001073341.1	Q13620	CUL4B_HUMAN	cullin 4B	336					cell cycle|DNA repair|ubiquitin-dependent protein catabolic process	Cul4B-RING ubiquitin ligase complex|nucleus	protein binding|ubiquitin protein ligase binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						CTGATCACTTATAATATGAGCCC	0.35													5	8	---	---	---	---						-	119678465	ATA	-	119678463	7	5	211	1	0	1	0	1	0	0	0	0	4081	449	16	0	1791	0	CUL4B	23	119678463	In_Frame_Del	DEL	ATA	TCGA-FG-A4MW-01A-11D-A26M-08	1393962	119678463	35592097	84	25512											
MAGEA11	4110	broad.mit.edu	37	X	148798319	148798319	+	Silent	SNP	C	C	T			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chrX:148798319C>T	ENST00000355220.5	+	5	1275	c.1173C>T	c.(1171-1173)caC>caT	p.H391H	MAGEA11_ENST00000333104.4_Silent_p.H362H	NM_005366.4	NP_005357.2	P43364	MAGAB_HUMAN	melanoma antigen family A, 11	391	MAGE.					cytoplasm|nucleus	protein binding			cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	9	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					CAAGGGCCCACGCTGAGACCA	0.527													69	25					0	0	1	0	0	T	148798319	C	T	148798319	2	4	211	1	0	0	0	0	0	0	0	1	9211	535	19	1		1	MAGEA11	23	148798319	Silent	SNP	C	TCGA-FG-A4MW-01A-11D-A26M-08	29119856	148798319	6472241	85	25513											
TBL1Y	90665	broad.mit.edu	37	Y	6911098	6911098	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chrY:6911098C>T	ENST00000383032.1	+	7	783	c.136C>T	c.(136-138)Ccg>Tcg	p.P46S	TBL1Y_ENST00000346432.3_Missense_Mutation_p.P46S|TBL1Y_ENST00000355162.2_Missense_Mutation_p.P46S	NM_033284.1	NP_150600.1	Q9BQ87	TBL1Y_HUMAN	transducin (beta)-like 1, Y-linked	46	F-box-like.				transcription, DNA-dependent					kidney(1)|large_intestine(4)|lung(2)|skin(1)	8						ACTAGTGCCACCGTCTGCCCT	0.532													14	9					0	0	1	0	0	T	6911098	C	T	6911098	3	4	211	1	0	0	0	0	1	0	0	0	15701	507	18	2	142	2	TBL1Y	24	6911098	Missense_Mutation	SNP	C	TCGA-FG-A4MW-01A-11D-A26M-08		6911098	52462468	86	25514											
RAD51AP2	729475	broad.mit.edu	37	2	17699300	17699300	+	Missense_Mutation	SNP	C	C	A			TCGA-FG-A4MX-01A-11D-A26M-08	TCGA-FG-A4MX-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4f2ebb-fe7f-4c5d-8cf2-64d21c54b45e	e34ba5e5-ed6c-4d3c-b63d-1a74fe43f8f4	g.chr2:17699300C>A	ENST00000399080.2	-	1	406	c.383G>T	c.(382-384)aGg>aTg	p.R128M		NM_001099218.2	NP_001092688.1	Q09MP3	R51A2_HUMAN	RAD51 associated protein 2	128										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TCCTGAAGCCCTCAAATCAGA	0.488													13	45					6.72482e-11	7.14513e-11	1	1	0	A	17699300	C	A	17699300	3	1	212	1	0	0	0	0	1	0	0	0	13039	681	24	4	3108	4	RAD51AP2	2	17699300	Missense_Mutation	SNP	C	TCGA-FG-A4MX-01A-11D-A26M-08		17699300	225500073	1	25515											
FAM179A	165186	broad.mit.edu	37	2	29222093	29222093	+	Silent	SNP	G	G	A			TCGA-FG-A4MX-01A-11D-A26M-08	TCGA-FG-A4MX-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4f2ebb-fe7f-4c5d-8cf2-64d21c54b45e	e34ba5e5-ed6c-4d3c-b63d-1a74fe43f8f4	g.chr2:29222093G>A	ENST00000379558.4	+	4	537	c.186G>A	c.(184-186)ccG>ccA	p.P62P	FAM179A_ENST00000403861.2_Silent_p.P62P	NM_199280.2	NP_954974.2	Q6ZUX3	F179A_HUMAN	family with sequence similarity 179, member A	62							binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						ACGAGGAACCGTCACAGCTCC	0.627													16	14					0	0	1	0	0	A	29222093	G	A	29222093	2	1	212	1	0	0	0	0	0	0	0	1	5535	1132	40	1		1	FAM179A	2	29222093	Silent	SNP	G	TCGA-FG-A4MX-01A-11D-A26M-08	11522793	29222093	213977280	2	25516											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-FG-A4MX-01A-11D-A26M-08	TCGA-FG-A4MX-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4f2ebb-fe7f-4c5d-8cf2-64d21c54b45e	e34ba5e5-ed6c-4d3c-b63d-1a74fe43f8f4	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								23	27					0	0	1	0	0	T	209113112	C	T	209113112	3	4	212	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-FG-A4MX-01A-11D-A26M-08	179891019	209113112	34086261	3	25517											
SLC6A20	54716	broad.mit.edu	37	3	45811778	45811778	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A4MX-01A-11D-A26M-08	TCGA-FG-A4MX-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4f2ebb-fe7f-4c5d-8cf2-64d21c54b45e	e34ba5e5-ed6c-4d3c-b63d-1a74fe43f8f4	g.chr3:45811778C>T	ENST00000358525.4	-	7	1136	c.1021G>A	c.(1021-1023)Gca>Aca	p.A341T	SLC6A20_ENST00000456124.2_Missense_Mutation_p.A341T|SLC6A20_ENST00000353278.4_Missense_Mutation_p.A304T	NM_020208.3	NP_064593.1	Q9NP91	S6A20_HUMAN	solute carrier family 6 (proline IMINO transporter), member 20	341					cellular nitrogen compound metabolic process|glycine transport|proline transport	apical plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(1)|large_intestine(6)|ovary(2)|skin(2)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.01)|KIRC - Kidney renal clear cell carcinoma(197;0.0225)|Kidney(197;0.0267)		TAGGCAGATGCGAGGTAGCCC	0.522													4	62					0	0	1	0	0	T	45811778	C	T	45811778	3	4	212	1	0	0	0	0	1	0	0	0	14739	768	27	1	777	1	SLC6A20	3	45811778	Missense_Mutation	SNP	C	TCGA-FG-A4MX-01A-11D-A26M-08		45811778	152210652	4	25518											
REV3L	5980	broad.mit.edu	37	6	111694047	111694050	+	Frame_Shift_Del	DEL	TAAA	TAAA	-			TCGA-FG-A4MX-01A-11D-A26M-08	TCGA-FG-A4MX-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4f2ebb-fe7f-4c5d-8cf2-64d21c54b45e	e34ba5e5-ed6c-4d3c-b63d-1a74fe43f8f4	g.chr6:111694047_111694050delTAAA	ENST00000435970.1	-	15	6090_6093	c.5274_5277delTTTA	c.(5272-5277)gatttafs	p.DL1758fs	REV3L_ENST00000368805.1_Frame_Shift_Del_p.DL1836fs|REV3L_ENST00000368802.3_Frame_Shift_Del_p.DL1836fs|REV3L_ENST00000358835.3_Frame_Shift_Del_p.DL1836fs			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	1836					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		CATACAGTTCTAAATCTTCACAGG	0.417								DNA polymerases (catalytic subunits)					40	88	---	---	---	---						-	111694050	TAAA	-	111694047	7	5	212	1	0	1	0	1	0	0	0	0	13292	1519	53	0	3961	0	REV3L	6	111694047	Frame_Shift_Del	DEL	TAAA	TCGA-FG-A4MX-01A-11D-A26M-08		111694047	59421020	5	25519											
CFTR	1080	broad.mit.edu	37	7	117232112	117232112	+	Missense_Mutation	SNP	T	T	C	rs121908777		TCGA-FG-A4MX-01A-11D-A26M-08	TCGA-FG-A4MX-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4f2ebb-fe7f-4c5d-8cf2-64d21c54b45e	e34ba5e5-ed6c-4d3c-b63d-1a74fe43f8f4	g.chr7:117232112T>C	ENST00000003084.6	+	14	2023	c.1891T>C	c.(1891-1893)Tca>Cca	p.S631P	CFTR_ENST00000454343.1_Missense_Mutation_p.S570P	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	631	ABC transporter 1.				respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	TGGGACATTTTCAGAACTCCA	0.338									Cystic Fibrosis				34	31					0	0	1	0	0	C	117232112	T	C	117232112	3	2	212	1	0	0	0	0	1	0	0	0	3316	1783	62	3	1945	3	CFTR	7	117232112	Missense_Mutation	SNP	T	TCGA-FG-A4MX-01A-11D-A26M-08		117232112	41906551	6	25520											
FSCN3	29999	broad.mit.edu	37	7	127240376	127240376	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-A4MX-01A-11D-A26M-08	TCGA-FG-A4MX-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4f2ebb-fe7f-4c5d-8cf2-64d21c54b45e	e34ba5e5-ed6c-4d3c-b63d-1a74fe43f8f4	g.chr7:127240376T>C	ENST00000265825.5	+	6	1639	c.1420T>C	c.(1420-1422)Tac>Cac	p.Y474H	FSCN3_ENST00000420086.2_Missense_Mutation_p.L338P	NM_020369.2	NP_065102.1	Q9NQT6	FSCN3_HUMAN	fascin homolog 3, actin-bundling protein, testicular (Strongylocentrotus purpuratus)	474						actin cytoskeleton|cytoplasm	actin filament binding|protein binding, bridging			endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30						CAATGGCTTCTACATGCGAGC	0.517													12	31					0	0	1	0	0	C	127240376	T	C	127240376	3	2	212	1	0	0	0	0	1	0	0	0	6104	1522	53	3	1442	3	FSCN3	7	127240376	Missense_Mutation	SNP	T	TCGA-FG-A4MX-01A-11D-A26M-08	10008264	127240376	31898287	7	25521											
EXT1	2131	broad.mit.edu	37	8	118842536	118842536	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-A4MX-01A-11D-A26M-08	TCGA-FG-A4MX-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4f2ebb-fe7f-4c5d-8cf2-64d21c54b45e	e34ba5e5-ed6c-4d3c-b63d-1a74fe43f8f4	g.chr8:118842536T>C	ENST00000378204.2	-	4	2023	c.1217A>G	c.(1216-1218)cAg>cGg	p.Q406R		NM_000127.2	NP_000118.2	Q16394	EXT1_HUMAN	exostosin glycosyltransferase 1	406					glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction|skeletal system development	Golgi membrane|integral to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|endometrium(7)|kidney(1)|large_intestine(12)|lung(10)|ovary(3)|prostate(1)|stomach(1)|urinary_tract(2)	38	all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.012)			TTGTGTCTGCTGTCTAAGTGC	0.378			"Mis, N, F, S"			"exostoses, osteosarcoma"			Langer-Giedion syndrome;Hereditary Multiple Exostoses				18	10					0	0	1	0	0	C	118842536	T	C	118842536	3	2	212	1	0	0	0	0	1	0	0	0	5351	1580	55	3	1055	3	EXT1	8	118842536	Missense_Mutation	SNP	T	TCGA-FG-A4MX-01A-11D-A26M-08		118842536	27521486	8	25522											
FREM1	158326	broad.mit.edu	37	9	14805068	14805068	+	Missense_Mutation	SNP	G	G	T			TCGA-FG-A4MX-01A-11D-A26M-08	TCGA-FG-A4MX-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4f2ebb-fe7f-4c5d-8cf2-64d21c54b45e	e34ba5e5-ed6c-4d3c-b63d-1a74fe43f8f4	g.chr9:14805068G>T	ENST00000380881.4	-	20	4175	c.3360C>A	c.(3358-3360)gaC>gaA	p.D1120E	FREM1_ENST00000422223.2_Missense_Mutation_p.D1119E|FREM1_ENST00000380880.3_Missense_Mutation_p.D1119E			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	1119					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		CCGTGAACTGGTCGGCAGTTG	0.438													6	55					5.9392e-07	6.11918e-07	1	1	0	T	14805068	G	T	14805068	3	4	212	1	0	0	0	0	1	0	0	0	6079	1252	44	5	3308	5	FREM1	9	14805068	Missense_Mutation	SNP	G	TCGA-FG-A4MX-01A-11D-A26M-08		14805068	126408363	9	25523											
LGI1	9211	broad.mit.edu	37	10	95557288	95557288	+	Missense_Mutation	SNP	A	A	G			TCGA-FG-A4MX-01A-11D-A26M-08	TCGA-FG-A4MX-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4f2ebb-fe7f-4c5d-8cf2-64d21c54b45e	e34ba5e5-ed6c-4d3c-b63d-1a74fe43f8f4	g.chr10:95557288A>G	ENST00000371418.4	+	8	1662	c.1402A>G	c.(1402-1404)Att>Gtt	p.I468V	LGI1_ENST00000542308.1_Missense_Mutation_p.I420V|LGI1_ENST00000371413.3_Intron	NM_005097.2	NP_005088.1	O95970	LGI1_HUMAN	leucine-rich, glioma inactivated 1	468					axon guidance|cell proliferation|positive regulation of cell growth|positive regulation of synaptic transmission	cell junction|extracellular space|synapse	receptor binding			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(18)|ovary(2)|skin(1)	29		Colorectal(252;0.124)				GTTCCAGGATATTCAGAGGAT	0.428													28	22					0	0	1	0	0	G	95557288	A	G	95557288	3	3	212	1	0	0	0	0	1	0	0	0	8791	449	16	3	1432	3	LGI1	10	95557288	Missense_Mutation	SNP	A	TCGA-FG-A4MX-01A-11D-A26M-08		95557288	39977459	10	25524											
PDCD11	22984	broad.mit.edu	37	10	105185105	105185105	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-A4MX-01A-11D-A26M-08	TCGA-FG-A4MX-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4f2ebb-fe7f-4c5d-8cf2-64d21c54b45e	e34ba5e5-ed6c-4d3c-b63d-1a74fe43f8f4	g.chr10:105185105T>C	ENST00000369797.3	+	20	3222	c.3128T>C	c.(3127-3129)gTc>gCc	p.V1043A		NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	1043	S1 motif 9.				mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		ACAGGGACTGTCAAGTCCATT	0.502													6	72					0	0	1	0	0	C	105185105	T	C	105185105	3	2	212	1	0	0	0	0	1	0	0	0	11664	1667	58	3	3202	3	PDCD11	10	105185105	Missense_Mutation	SNP	T	TCGA-FG-A4MX-01A-11D-A26M-08	9627817	105185105	30349642	11	25525											
ZMYM2	7750	broad.mit.edu	37	13	20656935	20656935	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FG-A4MX-01A-11D-A26M-08	TCGA-FG-A4MX-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4f2ebb-fe7f-4c5d-8cf2-64d21c54b45e	e34ba5e5-ed6c-4d3c-b63d-1a74fe43f8f4	g.chr13:20656935C>T	ENST00000382869.3	+	23	3834	c.3583C>T	c.(3583-3585)Cga>Tga	p.R1195*	ZMYM2_ENST00000382871.2_Nonsense_Mutation_p.R1195*|ZMYM2_ENST00000494061.2_3'UTR|ZMYM2_ENST00000382874.2_Nonsense_Mutation_p.R1195*	NM_001190965.1|NM_003453.3|NM_197968.2	NP_001177894.1|NP_003444.1|NP_932072.1	Q9UBW7	ZMYM2_HUMAN	zinc finger, MYM-type 2	1195					regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	ubiquitin conjugating enzyme binding|zinc ion binding			large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10		all_cancers(29;8.65e-21)|all_epithelial(30;1.04e-18)|all_lung(29;6.75e-18)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;0.000148)|Epithelial(112;0.000249)|OV - Ovarian serous cystadenocarcinoma(117;0.00816)|Lung(94;0.0173)|LUSC - Lung squamous cell carcinoma(192;0.0856)		AATATTCTCTCGAGTTGAAGA	0.313													6	5					0	0	1	0	0	T	20656935	C	T	20656935	4	4	212	1	0	0	0	0	0	1	0	0	17758	876	31	1	3665	1	ZMYM2	13	20656935	Nonsense_Mutation	SNP	C	TCGA-FG-A4MX-01A-11D-A26M-08		20656935	94512943	12	25526											
CCNB2	9133	broad.mit.edu	37	15	59409442	59409442	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A4MX-01A-11D-A26M-08	TCGA-FG-A4MX-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4f2ebb-fe7f-4c5d-8cf2-64d21c54b45e	e34ba5e5-ed6c-4d3c-b63d-1a74fe43f8f4	g.chr15:59409442C>T	ENST00000288207.2	+	7	1041	c.850C>T	c.(850-852)Cac>Tac	p.H284Y	CCNB2_ENST00000559622.1_Intron	NM_004701.3	NP_004692.1	O95067	CCNB2_HUMAN	cyclin B2	284					cell cycle checkpoint|cell division|G2/M transition of mitotic cell cycle|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	centrosome|cytosol|nucleus	protein kinase binding			kidney(4)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	9						TGTTGAACAGCACACTTTAGC	0.423													10	44					0	0	1	0	0	T	59409442	C	T	59409442	3	4	212	1	0	0	0	0	1	0	0	0	2935	710	25	2	876	2	CCNB2	15	59409442	Missense_Mutation	SNP	C	TCGA-FG-A4MX-01A-11D-A26M-08		59409442	43121950	13	25527											
BBS4	585	broad.mit.edu	37	15	73028230	73028230	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A4MX-01A-11D-A26M-08	TCGA-FG-A4MX-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4f2ebb-fe7f-4c5d-8cf2-64d21c54b45e	e34ba5e5-ed6c-4d3c-b63d-1a74fe43f8f4	g.chr15:73028230G>A	ENST00000268057.4	+	14	1212	c.1171G>A	c.(1171-1173)Gcc>Acc	p.A391T	BBS4_ENST00000542334.1_Missense_Mutation_p.A219T|BBS4_ENST00000395205.2_Missense_Mutation_p.A399T|BBS4_ENST00000539603.1_Missense_Mutation_p.A379T	NM_033028.4	NP_149017.2	Q96RK4	BBS4_HUMAN	Bardet-Biedl syndrome 4	391	Required for localization to centrosomes.				adult behavior|brain morphogenesis|cell cycle cytokinesis|centrosome organization|cerebral cortex development|convergent extension involved in gastrulation|dendrite development|fat cell differentiation|heart looping|hippocampus development|intracellular transport|maintenance of protein location in nucleus|melanosome transport|microtubule anchoring at centrosome|neural tube closure|nonmotile primary cilium assembly|photoreceptor cell maintenance|pigment granule aggregation in cell center|positive regulation of flagellum assembly|regulation of cilium beat frequency involved in ciliary motility|regulation of cytokinesis|regulation of lipid metabolic process|retina homeostasis|retinal rod cell development|sensory perception of smell|sensory processing|spermatid development|striatum development	BBSome|centriolar satellite|centriole|cilium membrane|microtubule basal body|motile cilium|nonmotile primary cilium|nucleus|pericentriolar material	alpha-tubulin binding|beta-tubulin binding|dynactin binding|microtubule motor activity			autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(1)	19						GAAGAAGAACGCCCTGGCCCA	0.483									Bardet-Biedl syndrome				9	93					0	0	1	0	0	A	73028230	G	A	73028230	3	1	212	1	0	0	0	0	1	0	0	0	1337	1087	38	1	1225	1	BBS4	15	73028230	Missense_Mutation	SNP	G	TCGA-FG-A4MX-01A-11D-A26M-08	13618788	73028230	29503162	14	25528											
TP53	7157	broad.mit.edu	37	17	7578466	7578466	+	Missense_Mutation	SNP	G	G	T			TCGA-FG-A4MX-01A-11D-A26M-08	TCGA-FG-A4MX-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4f2ebb-fe7f-4c5d-8cf2-64d21c54b45e	e34ba5e5-ed6c-4d3c-b63d-1a74fe43f8f4	g.chr17:7578466G>T	ENST00000420246.2	-	5	596	c.464C>A	c.(463-465)aCc>aAc	p.T155N	TP53_ENST00000455263.2_Missense_Mutation_p.T155N|TP53_ENST00000445888.2_Missense_Mutation_p.T155N|TP53_ENST00000359597.4_Missense_Mutation_p.T155N|TP53_ENST00000413465.2_Missense_Mutation_p.T155N|TP53_ENST00000269305.4_Missense_Mutation_p.T155N	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	155	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		T -> A (in sporadic cancers; somatic mutation).|T -> I (in sporadic cancers; somatic mutation).|T -> M (in a sporadic cancer; somatic mutation).|T -> N (in LFS; germline mutation and in sporadic cancers; somatic mutation).|T -> P (in sporadic cancers; somatic mutation).|T -> 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.T155N(22)|p.T155I(14)|p.0?(8)|p.?(5)|p.P152fs*14(4)|p.G154fs*14(2)|p.T155fs*23(2)|p.P153fs*22(2)|p.P151_V173del23(1)|p.G154_R156delGTR(1)|p.T155fs*25(1)|p.R156_A161del(1)|p.D148_T155delDSTPPPGT(1)|p.D148fs*23(1)|p.S149fs*72(1)|p.T23N(1)|p.T62N(1)|p.T62I(1)|p.T23I(1)|p.T155_A161delTRVRAMA(1)|p.G154fs*22(1)|p.R156fs*25(1)|p.T155_R156delTR(1)|p.T155S(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)		GCGGACGCGGGTGCCGGGCGG	0.612		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)			73	10					2.13026e-44	2.33642e-44	1	1	0	T	7578466	G	T	7578466	3	4	212	1	0	0	0	0	1	0	0	0	16442	1261	44	5	834	5	TP53	17	7578466	Missense_Mutation	SNP	G	TCGA-FG-A4MX-01A-11D-A26M-08		7578466	73616744	15	25529											
MAP1S	55201	broad.mit.edu	37	19	17845207	17845207	+	Silent	SNP	C	C	T			TCGA-FG-A4MX-01A-11D-A26M-08	TCGA-FG-A4MX-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4f2ebb-fe7f-4c5d-8cf2-64d21c54b45e	e34ba5e5-ed6c-4d3c-b63d-1a74fe43f8f4	g.chr19:17845207C>T	ENST00000324096.4	+	7	3301	c.3150C>T	c.(3148-3150)gaC>gaT	p.D1050D	CTD-3149D2.4_ENST00000595363.1_RNA|MAP1S_ENST00000544059.2_Silent_p.D1024D	NM_018174.4	NP_060644.4	Q66K74	MAP1S_HUMAN	microtubule-associated protein 1S	1050	Necessary for association with actin (By similarity).|Necessary for interaction with RASSF1 isoform A and isoform C.				apoptosis|brain development|microtubule bundle formation|mitochondrion transport along microtubule|neuron projection morphogenesis	cytosol|dendrite|microtubule|neuronal cell body|nucleus|perinuclear region of cytoplasm|spindle|synapse	actin filament binding|beta-tubulin binding|DNA binding|microtubule binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	25						TGCAGGATGACGCCTTCCCGG	0.632													21	46					0	0	1	0	0	T	17845207	C	T	17845207	2	4	212	1	0	0	0	0	0	0	0	1	9284	535	19	1		1	MAP1S	19	17845207	Silent	SNP	C	TCGA-FG-A4MX-01A-11D-A26M-08		17845207	41283776	16	25530											
MEIS3	56917	broad.mit.edu	37	19	47910360	47910360	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-A4MX-01A-11D-A26M-08	TCGA-FG-A4MX-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4f2ebb-fe7f-4c5d-8cf2-64d21c54b45e	e34ba5e5-ed6c-4d3c-b63d-1a74fe43f8f4	g.chr19:47910360T>C	ENST00000331559.5	-	10	1498	c.1057A>G	c.(1057-1059)Atg>Gtg	p.M353V	MEIS3_ENST00000559524.1_Missense_Mutation_p.M370V|MEIS3_ENST00000558555.1_Missense_Mutation_p.M324V|MEIS3_ENST00000441740.2_Missense_Mutation_p.M307V|MEIS3_ENST00000560253.1_5'UTR|MEIS3_ENST00000561293.1_Missense_Mutation_p.M370V|MEIS3_ENST00000561096.1_Missense_Mutation_p.M412V	NM_020160.2	NP_064545.1	Q99687	MEIS3_HUMAN	Meis homeobox 3	324						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|large_intestine(5)|lung(11)|prostate(1)|skin(2)	20		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;0.000198)|OV - Ovarian serous cystadenocarcinoma(262;0.000439)|Epithelial(262;0.0113)|GBM - Glioblastoma multiforme(486;0.0223)		TGATCGATCATAGGTTGCACG	0.607													5	8					0	0	1	0	0	C	47910360	T	C	47910360	3	2	212	1	0	0	0	0	1	0	0	0	9519	1406	49	3	169	3	MEIS3	19	47910360	Missense_Mutation	SNP	T	TCGA-FG-A4MX-01A-11D-A26M-08	30065153	47910360	11218623	17	25531											
MN1	4330	broad.mit.edu	37	22	28194934	28194936	+	In_Frame_Del	DEL	TGC	TGC	-	rs45480998		TCGA-FG-A4MX-01A-11D-A26M-08	TCGA-FG-A4MX-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4f2ebb-fe7f-4c5d-8cf2-64d21c54b45e	e34ba5e5-ed6c-4d3c-b63d-1a74fe43f8f4	g.chr22:28194934_28194936delTGC	ENST00000302326.4	-	1	2550_2552	c.1596_1598delGCA	c.(1594-1599)cagcaa>caa	p.532_533QQ>Q		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	532	Poly-Gln.						binding	p.Q532Q(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						ctgctgctgttgctgctgctgct	0.65			T	ETV6	"AML, meningioma"								3	5	---	---	---	---						-	28194936	TGC	-	28194934	7	5	212	1	0	1	0	1	0	0	0	0	9722	1812	63	0	2372	0	MN1	22	28194934	In_Frame_Del	DEL	TGC	TCGA-FG-A4MX-01A-11D-A26M-08		28194934	23109632	18	25532											
EIF3L	51386	broad.mit.edu	37	22	38258980	38258980	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A4MX-01A-11D-A26M-08	TCGA-FG-A4MX-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4f2ebb-fe7f-4c5d-8cf2-64d21c54b45e	e34ba5e5-ed6c-4d3c-b63d-1a74fe43f8f4	g.chr22:38258980G>A	ENST00000412331.2	+	6	1022	c.440G>A	c.(439-441)gGa>gAa	p.G147E	EIF3L_ENST00000406934.1_Missense_Mutation_p.G49E|EIF3L_ENST00000476955.1_Intron|EIF3L_ENST00000381683.6_Intron	NM_016091.3	NP_057175.1	Q9Y262	EIF3L_HUMAN	eukaryotic translation initiation factor 3, subunit L	147						eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			kidney(2)|large_intestine(3)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						TTACAGGGGGGACCTTCCTTG	0.388													33	35					0	0	1	0	0	A	38258980	G	A	38258980	3	1	212	1	0	0	0	0	1	0	0	0	5050	1174	41	2	462	2	EIF3L	22	38258980	Missense_Mutation	SNP	G	TCGA-FG-A4MX-01A-11D-A26M-08	10064046	38258980	13045586	19	25533											
ATRX	546	broad.mit.edu	37	X	76855965	76855965	+	Missense_Mutation	SNP	A	A	C			TCGA-FG-A4MX-01A-11D-A26M-08	TCGA-FG-A4MX-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4f2ebb-fe7f-4c5d-8cf2-64d21c54b45e	e34ba5e5-ed6c-4d3c-b63d-1a74fe43f8f4	g.chrX:76855965A>C	ENST00000373344.5	-	23	5849	c.5635T>G	c.(5635-5637)Tta>Gta	p.L1879V	ATRX_ENST00000395603.3_Missense_Mutation_p.L1841V|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1879					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)	ATTCTACTTAACATCTGAAAA	0.363			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						51	10					0	0	1	0	0	C	76855965	A	C	76855965	3	2	212	1	0	0	0	0	1	0	0	0	1206	40	2	5	1895	5	ATRX	23	76855965	Missense_Mutation	SNP	A	TCGA-FG-A4MX-01A-11D-A26M-08		76855965	78414595	20	25534											
PCDH19	57526	broad.mit.edu	37	X	99551565	99551565	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A4MX-01A-11D-A26M-08	TCGA-FG-A4MX-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4f2ebb-fe7f-4c5d-8cf2-64d21c54b45e	e34ba5e5-ed6c-4d3c-b63d-1a74fe43f8f4	g.chrX:99551565G>A	ENST00000373034.4	-	6	4832	c.3157C>T	c.(3157-3159)Cgg>Tgg	p.R1053W	PCDH19_ENST00000255531.7_Missense_Mutation_p.R1006W|PCDH19_ENST00000420881.2_Missense_Mutation_p.R1005W	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	1053					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						CCTGCCTCCCGGATAACGCTG	0.592													3	24					0	0	1	0	0	A	99551565	G	A	99551565	3	1	212	1	0	0	0	0	1	0	0	0	11561	1115	39	1	293	1	PCDH19	23	99551565	Missense_Mutation	SNP	G	TCGA-FG-A4MX-01A-11D-A26M-08	22695600	99551565	55718995	21	25535											
PDE4DIP	9659	broad.mit.edu	37	1	144856852	144856852	+	Silent	SNP	C	C	T	rs150847495	byFrequency	TCGA-FG-A4MY-01A-11D-A26M-08	TCGA-FG-A4MY-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e09da5-6fae-4bec-a234-735728c4b4ad	494f3477-0516-47ea-beaf-572109ff74f8	g.chr1:144856852C>T	ENST00000369359.4	-	43	7079	c.7041G>A	c.(7039-7041)gcG>gcA	p.A2347A	PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000313382.9_Silent_p.A2105A|PDE4DIP_ENST00000369356.4_Silent_p.A2211A|PDE4DIP_ENST00000530740.1_Silent_p.A2296A|PDE4DIP_ENST00000369354.3_Silent_p.A2211A			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	2211					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	p.A2211A(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		GGAAGCTGCACGCTGATCTCA	0.502			T	PDGFRB	MPD								3	8					0	0	1	0	0	T	144856852	C	T	144856852	2	4	213	1	0	0	0	0	0	0	0	1	11690	523	19	1		1	PDE4DIP	1	144856852	Silent	SNP	C	TCGA-FG-A4MY-01A-11D-A26M-08		144856852	104393769	1	25536											
MSH2	4436	broad.mit.edu	37	2	47705575	47705575	+	Missense_Mutation	SNP	A	A	G			TCGA-FG-A4MY-01A-11D-A26M-08	TCGA-FG-A4MY-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e09da5-6fae-4bec-a234-735728c4b4ad	494f3477-0516-47ea-beaf-572109ff74f8	g.chr2:47705575A>G	ENST00000406134.1	+	14	2437	c.2375A>G	c.(2374-2376)aAt>aGt	p.N792S	MSH2_ENST00000543555.1_Missense_Mutation_p.N726S|MSH2_ENST00000233146.2_Missense_Mutation_p.N792S			P43246	MSH2_HUMAN	mutS homolog 2	792					B cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|double-strand break repair|intra-S DNA damage checkpoint|isotype switching|maintenance of DNA repeat elements|male gonad development|meiotic gene conversion|meiotic mismatch repair|negative regulation of neuron apoptosis|negative regulation of reciprocal meiotic recombination|positive regulation of helicase activity|postreplication repair|response to UV-B|response to X-ray|somatic hypermutation of immunoglobulin genes	MutSalpha complex|MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|guanine/thymine mispair binding|loop DNA binding|protein C-terminus binding|protein homodimerization activity|protein kinase binding|Y-form DNA binding	p.0?(2)|p.?(2)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(5)|large_intestine(50)|lung(18)|ovary(5)|prostate(2)|skin(3)|small_intestine(1)|stomach(2)|urinary_tract(1)	112		all_hematologic(82;0.0359)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			GCCTTGGCCAATCAGATACCA	0.393			"D, Mis, N, F, S"		"colorectal, endometrial, ovarian"	"colorectal, endometrial, ovarian"		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				4	54					0	0	1	0	0	G	47705575	A	G	47705575	3	3	213	1	0	0	0	0	1	0	0	0	9919	101	4	3	2429	3	MSH2	2	47705575	Missense_Mutation	SNP	A	TCGA-FG-A4MY-01A-11D-A26M-08		47705575	195493798	2	25537											
TTN	7273	broad.mit.edu	37	2	179592490	179592490	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-A4MY-01A-11D-A26M-08	TCGA-FG-A4MY-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e09da5-6fae-4bec-a234-735728c4b4ad	494f3477-0516-47ea-beaf-572109ff74f8	g.chr2:179592490T>C	ENST00000589042.1	-	68	20039	c.19815A>G	c.(19813-19815)atA>atG	p.I6605M	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.I5361M|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.I6288M	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	6288	Ig-like 47.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TAAACCATTTTATTTTAAATG	0.413													8	92					0	0	1	0	0	C	179592490	T	C	179592490	3	2	213	1	0	0	0	0	1	0	0	0	16797	1744	61	3	84894	3	TTN	2	179592490	Missense_Mutation	SNP	T	TCGA-FG-A4MY-01A-11D-A26M-08	131886915	179592490	63606883	3	25538											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-FG-A4MY-01A-11D-A26M-08	TCGA-FG-A4MY-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e09da5-6fae-4bec-a234-735728c4b4ad	494f3477-0516-47ea-beaf-572109ff74f8	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	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								8	23					0	0	1	0	0	T	209113112	C	T	209113112	3	4	213	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-FG-A4MY-01A-11D-A26M-08	29520622	209113112	34086261	4	25539											
ALPP	250	broad.mit.edu	37	2	233243710	233243710	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A4MY-01A-11D-A26M-08	TCGA-FG-A4MY-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e09da5-6fae-4bec-a234-735728c4b4ad	494f3477-0516-47ea-beaf-572109ff74f8	g.chr2:233243710C>T	ENST00000392027.2	+	2	375	c.106C>T	c.(106-108)Cgc>Tgc	p.R36C		NM_001632.3	NP_001623.3	P05187	PPB1_HUMAN	alkaline phosphatase, placental	36						anchored to membrane|cell surface|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)		CTTCTGGAACCGCGAGGCAGC	0.632													9	97					0	0	1	0	0	T	233243710	C	T	233243710	3	4	213	1	0	0	0	0	1	0	0	0	544	652	23	1	112	1	ALPP	2	233243710	Missense_Mutation	SNP	C	TCGA-FG-A4MY-01A-11D-A26M-08	24130598	233243710	9955663	5	25540											
FANCD2	2177	broad.mit.edu	37	3	10083383	10083383	+	Missense_Mutation	SNP	T	T	G			TCGA-FG-A4MY-01A-11D-A26M-08	TCGA-FG-A4MY-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e09da5-6fae-4bec-a234-735728c4b4ad	494f3477-0516-47ea-beaf-572109ff74f8	g.chr3:10083383T>G	ENST00000287647.3	+	10	865	c.772T>G	c.(772-774)Ttc>Gtc	p.F258V	FANCD2_ENST00000419585.1_Missense_Mutation_p.F258V|FANCD2_ENST00000383806.1_Missense_Mutation_p.F258V|FANCD2_ENST00000383807.1_Missense_Mutation_p.F258V	NM_033084.3	NP_149075.2	Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	258	Interaction with BRCA2.|Interaction with FANCE.				DNA repair|response to gamma radiation	nucleoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		TGACCCAAACTTCCTATTGAA	0.438			"D, Mis, N, F"			"AML, leukemia"		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				11	25					0	0	1	0	0	G	10083383	T	G	10083383	3	3	213	1	0	0	0	0	1	0	0	0	5698	1609	56	5	806	5	FANCD2	3	10083383	Missense_Mutation	SNP	T	TCGA-FG-A4MY-01A-11D-A26M-08		10083383	187939047	6	25541											
SEMA3B	7869	broad.mit.edu	37	3	50313252	50313252	+	RNA	SNP	G	G	T			TCGA-FG-A4MY-01A-11D-A26M-08	TCGA-FG-A4MY-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e09da5-6fae-4bec-a234-735728c4b4ad	494f3477-0516-47ea-beaf-572109ff74f8	g.chr3:50313252G>T	ENST00000418948.1	+	0	2056							Q13214	SEM3B_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3B						axon guidance|cell-cell signaling	endoplasmic reticulum|extracellular region|membrane	receptor activity			central_nervous_system(2)|kidney(1)|lung(2)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		TTTCCAGCGCGCAGGGGTGAC	0.692													10	26					1.58986e-06	1.68339e-06	1	1	0	T	50313252	G	T	50313252	1	4	213	0	1	0	0	0	0	0	0	0	14079	1087	38	5		5	SEMA3B	3	50313252	RNA	SNP	G	TCGA-FG-A4MY-01A-11D-A26M-08	40229869	50313252	147709178	7	25542											
EIF4G1	1981	broad.mit.edu	37	3	184042736	184042736	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A4MY-01A-11D-A26M-08	TCGA-FG-A4MY-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e09da5-6fae-4bec-a234-735728c4b4ad	494f3477-0516-47ea-beaf-572109ff74f8	g.chr3:184042736G>A	ENST00000342981.4	+	17	3107	c.2693G>A	c.(2692-2694)gGg>gAg	p.G898E	EIF4G1_ENST00000346169.2_Missense_Mutation_p.G897E|EIF4G1_ENST00000414031.1_Missense_Mutation_p.G857E|EIF4G1_ENST00000434061.2_Missense_Mutation_p.G702E|EIF4G1_ENST00000424196.1_Missense_Mutation_p.G904E|EIF4G1_ENST00000352767.3_Missense_Mutation_p.G904E|EIF4G1_ENST00000319274.6_Missense_Mutation_p.G897E|EIF4G1_ENST00000382330.3_Missense_Mutation_p.G904E|EIF4G1_ENST00000427845.1_Missense_Mutation_p.G811E|EIF4G1_ENST00000441154.1_Missense_Mutation_p.G734E|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000350481.5_Missense_Mutation_p.G733E|EIF4G1_ENST00000392537.2_Missense_Mutation_p.G810E|EIF4G1_ENST00000435046.2_Missense_Mutation_p.G701E|EIF4G1_ENST00000411531.1_Missense_Mutation_p.G858E	NM_182917.4	NP_886553	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	897	eIF3/EIF4A-binding.				insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CGCTCTTTAGGGAATATCAAG	0.483													22	52					0	0	1	0	0	A	184042736	G	A	184042736	3	1	213	1	0	0	0	0	1	0	0	0	5064	1232	43	2	2752	2	EIF4G1	3	184042736	Missense_Mutation	SNP	G	TCGA-FG-A4MY-01A-11D-A26M-08	133729484	184042736	13979694	8	25543											
LETM1	3954	broad.mit.edu	37	4	1836604	1836604	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A4MY-01A-11D-A26M-08	TCGA-FG-A4MY-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e09da5-6fae-4bec-a234-735728c4b4ad	494f3477-0516-47ea-beaf-572109ff74f8	g.chr4:1836604C>T	ENST00000302787.2	-	5	1140	c.844G>A	c.(844-846)Gcc>Acc	p.A282T		NM_012318.2	NP_036450.1	O95202	LETM1_HUMAN	leucine zipper-EF-hand containing transmembrane protein 1	282	LETM1.				cristae formation	integral to membrane|mitochondrial inner membrane	calcium ion binding|protein binding			breast(3)|central_nervous_system(2)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	13			all cancers(2;0.00756)|OV - Ovarian serous cystadenocarcinoma(23;0.00989)|Epithelial(3;0.0141)			TCTTTGGTGGCGCTGCCCTTG	0.547													12	81					0	0	1	0	0	T	1836604	C	T	1836604	3	4	213	1	0	0	0	0	1	0	0	0	8773	768	27	1	1415	1	LETM1	4	1836604	Missense_Mutation	SNP	C	TCGA-FG-A4MY-01A-11D-A26M-08		1836604	189317672	9	25544											
ANKRD50	57182	broad.mit.edu	37	4	125590681	125590681	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-A4MY-01A-11D-A26M-08	TCGA-FG-A4MY-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e09da5-6fae-4bec-a234-735728c4b4ad	494f3477-0516-47ea-beaf-572109ff74f8	g.chr4:125590681T>C	ENST00000504087.1	-	4	4788	c.3751A>G	c.(3751-3753)Agt>Ggt	p.S1251G	ANKRD50_ENST00000515641.1_Missense_Mutation_p.S1072G	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	1251	Ser-rich.									NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						TCAAATTCACTACTTGGTGAA	0.433													22	66					0	0	1	0	0	C	125590681	T	C	125590681	3	2	213	1	0	0	0	0	1	0	0	0	671	1522	53	3	542	3	ANKRD50	4	125590681	Missense_Mutation	SNP	T	TCGA-FG-A4MY-01A-11D-A26M-08	123754077	125590681	65563595	10	25545											
FAF2	23197	broad.mit.edu	37	5	175913383	175913384	+	Frame_Shift_Ins	INS	-	-	A			TCGA-FG-A4MY-01A-11D-A26M-08	TCGA-FG-A4MY-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e09da5-6fae-4bec-a234-735728c4b4ad	494f3477-0516-47ea-beaf-572109ff74f8	g.chr5:175913383_175913384insA	ENST00000261942.6	+	3	213_214	c.160_161insA	c.(160-162)caafs	p.Q54fs	FAF2_ENST00000510446.1_3'UTR	NM_014613.2	NP_055428.1	Q96CS3	FAF2_HUMAN	Fas associated factor family member 2	54					response to unfolded protein	endoplasmic reticulum|lipid particle	protein binding			breast(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	10						ATTGAATGAGCAAGAGGGCGTA	0.485													10	53	---	---	---	---						A	175913384	-	A	175913383	7	5	213	1	0	1	1	0	0	0	0	0	5401	711	25	0	170	0	FAF2	5	175913383	Frame_Shift_Ins	INS	-	TCGA-FG-A4MY-01A-11D-A26M-08		175913383	5001877	11	25546											
AARS2	57505	broad.mit.edu	37	6	44269151	44269151	+	Silent	SNP	C	C	G			TCGA-FG-A4MY-01A-11D-A26M-08	TCGA-FG-A4MY-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e09da5-6fae-4bec-a234-735728c4b4ad	494f3477-0516-47ea-beaf-572109ff74f8	g.chr6:44269151C>G	ENST00000244571.4	-	20	2651	c.2649G>C	c.(2647-2649)ctG>ctC	p.L883L	TMEM151B_ENST00000438774.2_Intron|RP11-444E17.6_ENST00000505802.1_Intron|AARS2_ENST00000491573.1_5'UTR	NM_020745.3	NP_065796	Q5JTZ9	SYAM_HUMAN	alanyl-tRNA synthetase 2, mitochondrial	883					alanyl-tRNA aminoacylation	mitochondrion	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(2)|stomach(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		L-Alanine(DB00160)	TGTCCACAATCAGAGGCCCCT	0.602													11	172					0	0	1	0	0	G	44269151	C	G	44269151	2	3	213	1	0	0	0	0	0	0	0	1	20	813	29	5		5	AARS2	6	44269151	Silent	SNP	C	TCGA-FG-A4MY-01A-11D-A26M-08		44269151	126845916	12	25547											
COL21A1	81578	broad.mit.edu	37	6	55990366	55990366	+	Splice_Site	DEL	T	T	-			TCGA-FG-A4MY-01A-11D-A26M-08	TCGA-FG-A4MY-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e09da5-6fae-4bec-a234-735728c4b4ad	494f3477-0516-47ea-beaf-572109ff74f8	g.chr6:55990366delT	ENST00000244728.5	-	14	2046	c.1649delA	c.(1648-1650)aag>ag	p.K550fs	COL21A1_ENST00000535941.1_Splice_Site_p.K550fs|COL21A1_ENST00000370819.1_Splice_Site_p.K547fs	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	550	Collagen-like 2.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			TATACTTCCCTTTTTGCCATA	0.308													2	4	---	---	---	---						-	55990366	T	-	55990366	8	5	213	1	0	1	0	1	0	0	1	0	3703	1623	56	0	1292	0	COL21A1	6	55990366	Splice_Site	DEL	T	TCGA-FG-A4MY-01A-11D-A26M-08	11721215	55990366	115124701	13	25548											
RWDD2A	112611	broad.mit.edu	37	6	83904244	83904244	+	Missense_Mutation	SNP	A	A	G			TCGA-FG-A4MY-01A-11D-A26M-08	TCGA-FG-A4MY-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e09da5-6fae-4bec-a234-735728c4b4ad	494f3477-0516-47ea-beaf-572109ff74f8	g.chr6:83904244A>G	ENST00000369724.4	+	2	279	c.74A>G	c.(73-75)aAc>aGc	p.N25S	RWDD2A_ENST00000539997.1_Intron	NM_033411.3	NP_219479.2	Q9UIY3	RWD2A_HUMAN	RWD domain containing 2A	25	RWD.									cervix(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)	5		all_cancers(76;2.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00217)		BRCA - Breast invasive adenocarcinoma(397;0.045)		ATGTTTCCTAACCAAGGAGAA	0.443													8	17					0	0	1	0	0	G	83904244	A	G	83904244	3	3	213	1	0	0	0	0	1	0	0	0	13807	43	2	3	76	3	RWDD2A	6	83904244	Missense_Mutation	SNP	A	TCGA-FG-A4MY-01A-11D-A26M-08	27913878	83904244	87210823	14	25549											
POU3F2	5454	broad.mit.edu	37	6	99282949	99282951	+	In_Frame_Del	DEL	ACG	ACG	-			TCGA-FG-A4MY-01A-11D-A26M-08	TCGA-FG-A4MY-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e09da5-6fae-4bec-a234-735728c4b4ad	494f3477-0516-47ea-beaf-572109ff74f8	g.chr6:99282949_99282951delACG	ENST00000328345.5	+	1	370_372	c.200_202delACG	c.(199-204)cacggc>cgc	p.67_68HG>R		NM_005604.3	NP_005595.2	P20265	PO3F2_HUMAN	POU class 3 homeobox 2	67					positive regulation of cell proliferation		identical protein binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(3)|lung(5)	10		all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197)		BRCA - Breast invasive adenocarcinoma(108;0.0355)		GCGCTGTCCCAcggcggcggcgg	0.793													2	4	---	---	---	---						-	99282951	ACG	-	99282949	7	5	213	1	0	1	0	1	0	0	0	0	12321	159	6	0	202	0	POU3F2	6	99282949	In_Frame_Del	DEL	ACG	TCGA-FG-A4MY-01A-11D-A26M-08	15378705	99282949	71832118	15	25550											
PLEKHG1	57480	broad.mit.edu	37	6	151055100	151055100	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-A4MY-01A-11D-A26M-08	TCGA-FG-A4MY-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e09da5-6fae-4bec-a234-735728c4b4ad	494f3477-0516-47ea-beaf-572109ff74f8	g.chr6:151055100T>C	ENST00000367328.1	+	3	595	c.283T>C	c.(283-285)Tca>Cca	p.S95P	PLEKHG1_ENST00000358517.2_Missense_Mutation_p.S95P	NM_001029884.1	NP_001025055.1	Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 1	95					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		GAGAGTGGACTCAAACGGGGC	0.587													12	38					0	0	1	0	0	C	151055100	T	C	151055100	3	2	213	1	0	0	0	0	1	0	0	0	12116	1551	54	3	285	3	PLEKHG1	6	151055100	Missense_Mutation	SNP	T	TCGA-FG-A4MY-01A-11D-A26M-08	51772151	151055100	20059967	16	25551											
PMS2	5395	broad.mit.edu	37	7	6017340	6017340	+	Missense_Mutation	SNP	T	T	C	rs146118239	by1000genomes	TCGA-FG-A4MY-01A-11D-A26M-08	TCGA-FG-A4MY-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e09da5-6fae-4bec-a234-735728c4b4ad	494f3477-0516-47ea-beaf-572109ff74f8	g.chr7:6017340T>C	ENST00000265849.7	-	14	2429	c.2324A>G	c.(2323-2325)aAc>aGc	p.N775S	PMS2_ENST00000406569.3_Missense_Mutation_p.T562A|PMS2_ENST00000441476.2_Missense_Mutation_p.N669S|PMS2_ENST00000382321.4_Missense_Mutation_p.N374S	NM_000535.5	NP_000526	P54278	PMS2_HUMAN	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)	775			N -> S (in dbSNP:rs17420802).		mismatch repair|reciprocal meiotic recombination|somatic hypermutation of immunoglobulin genes	MutLalpha complex	ATP binding|ATPase activity|endonuclease activity|protein binding|single base insertion or deletion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)		GAAGGTCCAGTTTTTACTAGT	0.478			"Mis, N, F"			"colorectal, endometrial, ovarian, medulloblastoma, glioma"		Direct reversal of damage;Mismatch excision repair (MMR)	Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				6	56					0	0	1	0	0	C	6017340	T	C	6017340	3	2	213	1	0	0	0	0	1	0	0	0	12191	1725	60	3	272	3	PMS2	7	6017340	Missense_Mutation	SNP	T	TCGA-FG-A4MY-01A-11D-A26M-08		6017340	153121323	17	25552											
ABCA13	154664	broad.mit.edu	37	7	48312200	48312200	+	Missense_Mutation	SNP	G	G	C			TCGA-FG-A4MY-01A-11D-A26M-08	TCGA-FG-A4MY-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e09da5-6fae-4bec-a234-735728c4b4ad	494f3477-0516-47ea-beaf-572109ff74f8	g.chr7:48312200G>C	ENST00000435803.1	+	17	2961	c.2937G>C	c.(2935-2937)caG>caC	p.Q979H		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	979					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TGAATATTCAGAGTAGAGGCT	0.308													3	21					0	0	1	0	0	C	48312200	G	C	48312200	3	2	213	1	0	0	0	0	1	0	0	0	31	933	33	4	2832	4	ABCA13	7	48312200	Missense_Mutation	SNP	G	TCGA-FG-A4MY-01A-11D-A26M-08	42294860	48312200	110826463	18	25553											
PAPPA	5069	broad.mit.edu	37	9	119144692	119144692	+	Missense_Mutation	SNP	T	T	A			TCGA-FG-A4MY-01A-11D-A26M-08	TCGA-FG-A4MY-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e09da5-6fae-4bec-a234-735728c4b4ad	494f3477-0516-47ea-beaf-572109ff74f8	g.chr9:119144692T>A	ENST00000328252.3	+	21	5065	c.4696T>A	c.(4696-4698)Tat>Aat	p.Y1566N	PAPPA_ENST00000483254.1_3'UTR|PAPPA_ENST00000534838.1_Missense_Mutation_p.Y604N	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	1566					cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						GGGAGACAATTATTGTGATGC	0.527													9	88					0	0	1	0	0	A	119144692	T	A	119144692	3	1	213	1	0	0	0	0	1	0	0	0	11479	1754	61	5	4778	5	PAPPA	9	119144692	Missense_Mutation	SNP	T	TCGA-FG-A4MY-01A-11D-A26M-08		119144692	22068739	19	25554											
VAV2	7410	broad.mit.edu	37	9	136641200	136641200	+	Silent	SNP	C	C	T	rs150295787		TCGA-FG-A4MY-01A-11D-A26M-08	TCGA-FG-A4MY-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e09da5-6fae-4bec-a234-735728c4b4ad	494f3477-0516-47ea-beaf-572109ff74f8	g.chr9:136641200C>T	ENST00000371851.1	-	22	2263	c.1938G>A	c.(1936-1938)ccG>ccA	p.P646P	VAV2_ENST00000371850.3_Silent_p.P656P|VAV2_ENST00000406606.3_Silent_p.P646P			P52735	VAV2_HUMAN	vav 2 guanine nucleotide exchange factor	656	SH3 1.				angiogenesis|apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	metal ion binding|Rho guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1)	35				OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06)		GGCTGATGGGCGGCTGGTGGC	0.617													21	56					0	0	1	0	0	T	136641200	C	T	136641200	2	4	213	1	0	0	0	0	0	0	0	1	17192	755	27	1		1	VAV2	9	136641200	Silent	SNP	C	TCGA-FG-A4MY-01A-11D-A26M-08	17496508	136641200	4572231	20	25555											
BMI1	648	broad.mit.edu	37	10	22618234	22618234	+	Silent	SNP	A	A	G			TCGA-FG-A4MY-01A-11D-A26M-08	TCGA-FG-A4MY-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e09da5-6fae-4bec-a234-735728c4b4ad	494f3477-0516-47ea-beaf-572109ff74f8	g.chr10:22618234A>G	ENST00000376663.3	+	10	1249	c.744A>G	c.(742-744)gaA>gaG	p.E248E	COMMD3-BMI1_ENST00000602390.1_Silent_p.E391E	NM_005180.8	NP_005171.4			BMI1 polycomb ring finger oncogene											breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(2)|urinary_tract(1)	12						ATGCTGGAGAACTGGAAAGTG	0.483													4	49					0	0	1	0	0	G	22618234	A	G	22618234	2	3	213	1	0	0	0	0	0	0	0	1	1454	40	2	3		3	BMI1	10	22618234	Silent	SNP	A	TCGA-FG-A4MY-01A-11D-A26M-08		22618234	112916513	21	25556											
PTPRJ	5795	broad.mit.edu	37	11	48152190	48152190	+	Missense_Mutation	SNP	A	A	G			TCGA-FG-A4MY-01A-11D-A26M-08	TCGA-FG-A4MY-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e09da5-6fae-4bec-a234-735728c4b4ad	494f3477-0516-47ea-beaf-572109ff74f8	g.chr11:48152190A>G	ENST00000418331.2	+	8	1889	c.1537A>G	c.(1537-1539)Acc>Gcc	p.T513A	PTPRJ_ENST00000440289.2_Missense_Mutation_p.T513A	NM_002843.3	NP_002834.3	Q12913	PTPRJ_HUMAN	protein tyrosine phosphatase, receptor type, J	513	Fibronectin type-III 5.				contact inhibition|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of T cell receptor signaling pathway|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression	cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane	beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity			breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						GTTCCCTGGAACCAAGTATTG	0.428													10	11					0	0	1	0	0	G	48152190	A	G	48152190	3	3	213	1	0	0	0	0	1	0	0	0	12856	43	2	3	1567	3	PTPRJ	11	48152190	Missense_Mutation	SNP	A	TCGA-FG-A4MY-01A-11D-A26M-08		48152190	86854326	22	25557											
A2M	2	broad.mit.edu	37	12	9232315	9232315	+	Missense_Mutation	SNP	A	A	C			TCGA-FG-A4MY-01A-11D-A26M-08	TCGA-FG-A4MY-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e09da5-6fae-4bec-a234-735728c4b4ad	494f3477-0516-47ea-beaf-572109ff74f8	g.chr12:9232315A>C	ENST00000318602.7	-	24	3258	c.2951T>G	c.(2950-2952)aTc>aGc	p.I984S	A2M_ENST00000542567.1_5'UTR	NM_000014.4	NP_000005	P01023	A2MG_HUMAN	alpha-2-macroglobulin	984					blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)	CAGTACATAGATGTTAGGAGC	0.433													7	12					0	0	1	0	0	C	9232315	A	C	9232315	3	2	213	1	0	0	0	0	1	0	0	0	4	333	12	4	1525	4	A2M	12	9232315	Missense_Mutation	SNP	A	TCGA-FG-A4MY-01A-11D-A26M-08		9232315	124619580	23	25558											
GPR133	283383	broad.mit.edu	37	12	131466566	131466566	+	Missense_Mutation	SNP	C	C	T	rs144030317		TCGA-FG-A4MY-01A-11D-A26M-08	TCGA-FG-A4MY-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e09da5-6fae-4bec-a234-735728c4b4ad	494f3477-0516-47ea-beaf-572109ff74f8	g.chr12:131466566C>T	ENST00000261654.5	+	5	1007	c.448C>T	c.(448-450)Cgg>Tgg	p.R150W	GPR133_ENST00000535015.1_Missense_Mutation_p.R182W	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	150					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.R150W(1)		NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		GCTGTATACGCGGGACAATTC	0.587													14	45					0	0	1	0	0	T	131466566	C	T	131466566	3	4	213	1	0	0	0	0	1	0	0	0	6683	759	27	1	466	1	GPR133	12	131466566	Missense_Mutation	SNP	C	TCGA-FG-A4MY-01A-11D-A26M-08	122234251	131466566	2385329	24	25559											
UBFD1	56061	broad.mit.edu	37	16	23568991	23568991	+	Frame_Shift_Del	DEL	G	G	-			TCGA-FG-A4MY-01A-11D-A26M-08	TCGA-FG-A4MY-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e09da5-6fae-4bec-a234-735728c4b4ad	494f3477-0516-47ea-beaf-572109ff74f8	g.chr16:23568991delG	ENST00000219638.4	+	1	600	c.600delG	c.(598-600)gcgfs	p.A200fs	EARS2_ENST00000564501.1_5'UTR|UBFD1_ENST00000395878.3_5'UTR			O14562	UBFD1_HUMAN	ubiquitin family domain containing 1	0										endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7				GBM - Glioblastoma multiforme(48;0.0331)		GGGCTGCTGCGGGGGCCAATC	0.677													2	4	---	---	---	---						-	23568991	G	-	23568991	7	5	213	1	0	1	0	1	0	0	0	0	16945	1131	39	0		0	UBFD1	16	23568991	Frame_Shift_Del	DEL	G	TCGA-FG-A4MY-01A-11D-A26M-08		23568991	66785762	25	25560											
EIF4A1	1973	broad.mit.edu	37	17	7481686	7481686	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A4MY-01A-11D-A26M-08	TCGA-FG-A4MY-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e09da5-6fae-4bec-a234-735728c4b4ad	494f3477-0516-47ea-beaf-572109ff74f8	g.chr17:7481686G>A	ENST00000293831.8	+	11	1119	c.1103G>A	c.(1102-1104)cGt>cAt	p.R368H	EIF4A1_ENST00000577269.1_Silent_p.P347P|SENP3-EIF4A1_ENST00000579777.1_RNA|EIF4A1_ENST00000582746.1_Silent_p.P341P	NM_001416.3	NP_001407.1	P60842	IF4A1_HUMAN	eukaryotic translation initiation factor 4A1	368	Helicase C-terminal.				nuclear-transcribed mRNA poly(A) tail shortening	cytosol|eukaryotic translation initiation factor 4F complex	ATP binding|ATP-dependent helicase activity|mRNA binding|protein binding|RNA cap binding|translation initiation factor activity			NS(1)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	22						CGGTTTGGCCGTAAAGGTGTG	0.507													8	81					0	0	1	0	0	A	7481686	G	A	7481686	3	1	213	1	0	0	0	0	1	0	0	0	5052	1145	40	1	1145	1	EIF4A1	17	7481686	Missense_Mutation	SNP	G	TCGA-FG-A4MY-01A-11D-A26M-08		7481686	73713524	26	25561											
TP53	7157	broad.mit.edu	37	17	7578403	7578403	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A4MY-01A-11D-A26M-08	TCGA-FG-A4MY-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e09da5-6fae-4bec-a234-735728c4b4ad	494f3477-0516-47ea-beaf-572109ff74f8	g.chr17:7578403C>T	ENST00000420246.2	-	5	659	c.527G>A	c.(526-528)tGc>tAc	p.C176Y	TP53_ENST00000574684.1_5'UTR|TP53_ENST00000269305.4_Missense_Mutation_p.C176Y|TP53_ENST00000455263.2_Missense_Mutation_p.C176Y|TP53_ENST00000413465.2_Missense_Mutation_p.C176Y|TP53_ENST00000445888.2_Missense_Mutation_p.C176Y|TP53_ENST00000359597.4_Missense_Mutation_p.C176Y	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	176	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in sporadic cancers; somatic mutation).|CP -> FS (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.C176F(129)|p.C176Y(63)|p.C83F(9)|p.C44F(9)|p.C176S(8)|p.0?(8)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.C44Y(3)|p.C83Y(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.C176fs*65(1)|p.C176_P177delCP(1)|p.V173fs*69(1)|p.C176fs*68(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.C176del(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H178fs*3(1)|p.R174fs*3(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)		ATGGTGGGGGCAGCGCCTCAC	0.652		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)			24	16					0	0	1	0	0	T	7578403	C	T	7578403	3	4	213	1	0	0	0	0	1	0	0	0	16442	710	25	2	771	2	TP53	17	7578403	Missense_Mutation	SNP	C	TCGA-FG-A4MY-01A-11D-A26M-08	96717	7578403	73616807	27	25562											
KIF2B	84643	broad.mit.edu	37	17	51901156	51901156	+	Missense_Mutation	SNP	C	C	A			TCGA-FG-A4MY-01A-11D-A26M-08	TCGA-FG-A4MY-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e09da5-6fae-4bec-a234-735728c4b4ad	494f3477-0516-47ea-beaf-572109ff74f8	g.chr17:51901156C>A	ENST00000268919.4	+	1	918	c.762C>A	c.(760-762)gaC>gaA	p.D254E		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	254	Kinesin-motor.				blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						AAAAGGTGGACCTCACTCGCT	0.547													10	31					0.000673444	0.000699346	1	1	0	A	51901156	C	A	51901156	3	1	213	1	0	0	0	0	1	0	0	0	8340	506	18	5	764	5	KIF2B	17	51901156	Missense_Mutation	SNP	C	TCGA-FG-A4MY-01A-11D-A26M-08	44322753	51901156	29294054	28	25563											
TMEM104	54868	broad.mit.edu	37	17	72791232	72791232	+	Missense_Mutation	SNP	C	C	G			TCGA-FG-A4MY-01A-11D-A26M-08	TCGA-FG-A4MY-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e09da5-6fae-4bec-a234-735728c4b4ad	494f3477-0516-47ea-beaf-572109ff74f8	g.chr17:72791232C>G	ENST00000335464.5	+	7	671	c.509C>G	c.(508-510)tCc>tGc	p.S170C	TMEM104_ENST00000582773.1_Missense_Mutation_p.S170C|TMEM104_ENST00000417024.2_Missense_Mutation_p.S183C|TMEM104_ENST00000582330.1_Missense_Mutation_p.S170C	NM_017728.3	NP_060198.3	Q8NE00	TM104_HUMAN	transmembrane protein 104	170						integral to membrane				NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(5)|ovary(1)	19	all_lung(278;0.23)					GTGCCCTTCTCCCTCATGCAG	0.567													8	23					0	0	1	0	0	G	72791232	C	G	72791232	3	3	213	1	0	0	0	0	1	0	0	0	16078	855	30	5	531	5	TMEM104	17	72791232	Missense_Mutation	SNP	C	TCGA-FG-A4MY-01A-11D-A26M-08	20890076	72791232	8403978	29	25564											
PHLPP1	23239	broad.mit.edu	37	18	60646563	60646565	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-FG-A4MY-01A-11D-A26M-08	TCGA-FG-A4MY-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e09da5-6fae-4bec-a234-735728c4b4ad	494f3477-0516-47ea-beaf-572109ff74f8	g.chr18:60646563_60646565delCAG	ENST00000400316.4	+	17	5298_5300	c.3517_3519delCAG	c.(3517-3519)cagdel	p.Q1177del	PHLPP1_ENST00000262719.5_In_Frame_Del_p.Q1689del	NM_194449.3	NP_919431.2	O60346	PHLP1_HUMAN	PH domain and leucine rich repeat protein phosphatase 1	1689	PP2C-like.				apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	cytosol|membrane|nucleus	metal ion binding|protein serine/threonine phosphatase activity			endometrium(2)|kidney(2)|lung(13)	17						ccaggagcaacagcagcagcagc	0.586													2	4	---	---	---	---						-	60646565	CAG	-	60646563	7	5	213	1	0	1	0	1	0	0	0	0	11902	479	17	0	5119	0	PHLPP1	18	60646563	In_Frame_Del	DEL	CAG	TCGA-FG-A4MY-01A-11D-A26M-08		60646563	17430685	30	25565											
BAGE2	85319	broad.mit.edu	37	21	11098910	11098910	+	RNA	SNP	G	G	A			TCGA-FG-A4MY-01A-11D-A26M-08	TCGA-FG-A4MY-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e09da5-6fae-4bec-a234-735728c4b4ad	494f3477-0516-47ea-beaf-572109ff74f8	g.chr21:11098910G>A	ENST00000470054.1	-	0	15									B melanoma antigen family, member 2															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)		gcagctcagcgggagatacca	0.587													3	14					0	0	1	0	0	A	11098910	G	A	11098910	1	1	213	0	1	0	0	0	0	0	0	0	1290	1131	39	1		1	BAGE2	21	11098910	RNA	SNP	G	TCGA-FG-A4MY-01A-11D-A26M-08		11098910	37030985	31	25566											
TRIOBP	11078	broad.mit.edu	37	22	38120527	38120527	+	Missense_Mutation	SNP	G	G	A	rs148083430	by1000genomes	TCGA-FG-A4MY-01A-11D-A26M-08	TCGA-FG-A4MY-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e09da5-6fae-4bec-a234-735728c4b4ad	494f3477-0516-47ea-beaf-572109ff74f8	g.chr22:38120527G>A	ENST00000406386.3	+	7	2219	c.1964G>A	c.(1963-1965)cGg>cAg	p.R655Q		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	655					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho 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)					TGTGCCCGACGGGACGATCCC	0.587													4	54					0	0	1	0	0	A	38120527	G	A	38120527	3	1	213	1	0	0	0	0	1	0	0	0	16614	1116	39	1	1982	1	TRIOBP	22	38120527	Missense_Mutation	SNP	G	TCGA-FG-A4MY-01A-11D-A26M-08		38120527	13184039	32	25567											
DMD	1756	broad.mit.edu	37	X	32456488	32456488	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A4MY-01A-11D-A26M-08	TCGA-FG-A4MY-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e09da5-6fae-4bec-a234-735728c4b4ad	494f3477-0516-47ea-beaf-572109ff74f8	g.chrX:32456488C>T	ENST00000357033.4	-	29	4147	c.3941G>A	c.(3940-3942)cGa>cAa	p.R1314Q	DMD_ENST00000378677.2_Missense_Mutation_p.R1310Q	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	1314					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				CTCTGAATGTCGCATCAAATT	0.363													6	11					0	0	1	0	0	T	32456488	C	T	32456488	3	4	213	1	0	0	0	0	1	0	0	0	4608	884	31	1	7563	1	DMD	23	32456488	Missense_Mutation	SNP	C	TCGA-FG-A4MY-01A-11D-A26M-08		32456488	122814072	33	25568											
GAGE2D	729408	broad.mit.edu	37	X	49208295	49208296	+	In_Frame_Ins	INS	-	-	TAT			TCGA-FG-A4MY-01A-11D-A26M-08	TCGA-FG-A4MY-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e09da5-6fae-4bec-a234-735728c4b4ad	494f3477-0516-47ea-beaf-572109ff74f8	g.chrX:49208295_49208296insTAT	ENST00000404720.2	+	2	96_97	c.24_25insTAT	c.(25-27)tat>TATtat	p.9_9Y>YY		NM_001098407.1|NM_012196.1	NP_001091877.1|NP_036328.1			G antigen 2D																		GAAGATCGACCTATCGGCCTAG	0.465													3	5	---	---	---	---						TAT	49208296	-	TAT	49208295	7	5	213	1	0	1	1	0	0	0	0	0	6229	668	24	0	366	0	GAGE2D	23	49208295	In_Frame_Ins	INS	-	TCGA-FG-A4MY-01A-11D-A26M-08	16751807	49208295	106062265	34	25569											
MED12	9968	broad.mit.edu	37	X	70341257	70341257	+	Missense_Mutation	SNP	G	G	T			TCGA-FG-A4MY-01A-11D-A26M-08	TCGA-FG-A4MY-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e09da5-6fae-4bec-a234-735728c4b4ad	494f3477-0516-47ea-beaf-572109ff74f8	g.chrX:70341257G>T	ENST00000333646.6	+	6	1015	c.816G>T	c.(814-816)ttG>ttT	p.L272F	MED12_ENST00000374080.3_Missense_Mutation_p.L272F|MED12_ENST00000374102.1_Missense_Mutation_p.L272F	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN	mediator complex subunit 12	272					androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					AGGATGAATTGCTTAAACTGC	0.498			"M, S"		uterine leiomyoma		Opitz-Kaveggia Syndrome						7	68					0.00307968	0.00313779	1	1	0	T	70341257	G	T	70341257	3	4	213	1	0	0	0	0	1	0	0	0	9478	1310	46	5	838	5	MED12	23	70341257	Missense_Mutation	SNP	G	TCGA-FG-A4MY-01A-11D-A26M-08	21132962	70341257	84929303	35	25570											
ATRX	546	broad.mit.edu	37	X	76874425	76874425	+	Frame_Shift_Del	DEL	T	T	-			TCGA-FG-A4MY-01A-11D-A26M-08	TCGA-FG-A4MY-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e09da5-6fae-4bec-a234-735728c4b4ad	494f3477-0516-47ea-beaf-572109ff74f8	g.chrX:76874425delT	ENST00000373344.5	-	21	5511	c.5297delA	c.(5296-5298)aagfs	p.K1766fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.K1728fs	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1766	Helicase ATP-binding.				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)	TAAATTTTCCTTGATAAAATT	0.313			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						6	11	---	---	---	---						-	76874425	T	-	76874425	7	5	213	1	0	1	0	1	0	0	0	0	1206	1609	56	0	2241	0	ATRX	23	76874425	Frame_Shift_Del	DEL	T	TCGA-FG-A4MY-01A-11D-A26M-08	6533168	76874425	78396135	36	25571											
SYTL4	94121	broad.mit.edu	37	X	99931059	99931059	+	Missense_Mutation	SNP	C	C	T	rs139707843	byFrequency	TCGA-FG-A4MY-01A-11D-A26M-08	TCGA-FG-A4MY-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e09da5-6fae-4bec-a234-735728c4b4ad	494f3477-0516-47ea-beaf-572109ff74f8	g.chrX:99931059C>T	ENST00000455616.1	-	18	2328	c.1982G>A	c.(1981-1983)cGt>cAt	p.R661H	SYTL4_ENST00000263033.5_Missense_Mutation_p.R661H|SYTL4_ENST00000491602.1_5'UTR|SYTL4_ENST00000276141.6_Missense_Mutation_p.R661H|SYTL4_ENST00000372989.1_Missense_Mutation_p.R661H|SYTL4_ENST00000454200.2_Missense_Mutation_p.R663H			Q96C24	SYTL4_HUMAN	synaptotagmin-like 4	661					exocytosis|intracellular protein transport	extrinsic to membrane|plasma membrane|synaptic vesicle|transport vesicle membrane	neurexin binding|phospholipid binding|Rab GTPase binding|transporter activity|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(2)	27					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CATTGAGGAACGGAGCTGCAG	0.567													5	14					0	0	1	0	0	T	99931059	C	T	99931059	3	4	213	1	0	0	0	0	1	0	0	0	15542	536	19	1	37	1	SYTL4	23	99931059	Missense_Mutation	SNP	C	TCGA-FG-A4MY-01A-11D-A26M-08	23056634	99931059	55339501	37	25572											
PAK3	5063	broad.mit.edu	37	X	110385328	110385328	+	Silent	SNP	T	T	C			TCGA-FG-A4MY-01A-11D-A26M-08	TCGA-FG-A4MY-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e09da5-6fae-4bec-a234-735728c4b4ad	494f3477-0516-47ea-beaf-572109ff74f8	g.chrX:110385328T>C	ENST00000372007.5	+	6	571	c.180T>C	c.(178-180)aaT>aaC	p.N60N	PAK3_ENST00000360648.4_Silent_p.N60N|PAK3_ENST00000372010.1_Silent_p.N60N|PAK3_ENST00000446737.1_Silent_p.N60N|PAK3_ENST00000518291.1_Silent_p.N60N|PAK3_ENST00000417227.1_Silent_p.N60N|PAK3_ENST00000262836.4_Silent_p.N60N|PAK3_ENST00000425146.1_Silent_p.N60N|PAK3_ENST00000519681.1_Silent_p.N60N	NM_002578.3	NP_002569.1	O75914	PAK3_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 3						multicellular organismal development		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding			breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						CTTTAGCCAATAAGAAGAAGG	0.388										TSP Lung(19;0.15)			20	64					0	0	1	0	0	C	110385328	T	C	110385328	2	2	213	1	0	0	0	0	0	0	0	1	11449	1403	49	3		3	PAK3	23	110385328	Silent	SNP	T	TCGA-FG-A4MY-01A-11D-A26M-08	10454269	110385328	44885232	38	25573											
MBNL3	55796	broad.mit.edu	37	X	131520820	131520820	+	Missense_Mutation	SNP	A	A	G			TCGA-FG-A4MY-01A-11D-A26M-08	TCGA-FG-A4MY-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e09da5-6fae-4bec-a234-735728c4b4ad	494f3477-0516-47ea-beaf-572109ff74f8	g.chrX:131520820A>G	ENST00000538204.1	-	5	706	c.641T>C	c.(640-642)cTg>cCg	p.L214P	RAP2C-AS1_ENST00000421483.2_RNA|MBNL3_ENST00000370844.1_Missense_Mutation_p.L168P|MBNL3_ENST00000370849.3_Missense_Mutation_p.L214P|MBNL3_ENST00000370857.3_Missense_Mutation_p.L264P|MBNL3_ENST00000370839.3_Intron|MBNL3_ENST00000394311.2_Missense_Mutation_p.L168P|MBNL3_ENST00000370853.3_Missense_Mutation_p.L264P|RAP2C-AS1_ENST00000441399.2_RNA	NM_001170702.1	NP_001164173.1	Q9NUK0	MBNL3_HUMAN	muscleblind-like splicing regulator 3	264					mRNA processing|multicellular organismal development|regulation of RNA splicing|RNA splicing	Golgi apparatus|nucleus	nucleic acid binding|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|prostate(2)	16	Acute lymphoblastic leukemia(192;0.000127)					TATCAGTTGCAGTGTACCAGG	0.488													19	42					0	0	1	0	0	G	131520820	A	G	131520820	3	3	213	1	0	0	0	0	1	0	0	0	9405	188	7	3	350	3	MBNL3	23	131520820	Missense_Mutation	SNP	A	TCGA-FG-A4MY-01A-11D-A26M-08	21135492	131520820	23749740	39	25574											
MAGEC2	51438	broad.mit.edu	37	X	141291734	141291734	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-A4MY-01A-11D-A26M-08	TCGA-FG-A4MY-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e09da5-6fae-4bec-a234-735728c4b4ad	494f3477-0516-47ea-beaf-572109ff74f8	g.chrX:141291734T>C	ENST00000247452.3	-	3	387	c.40A>G	c.(40-42)Aac>Gac	p.N14D		NM_016249.3	NP_057333.1	Q9UBF1	MAGC2_HUMAN	melanoma antigen family C, 2	14						cytoplasm|nucleus				NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47	Acute lymphoblastic leukemia(192;6.56e-05)					GGGGAGTCGTTGTCAACGTTG	0.522										HNSCC(46;0.14)			17	100					0	0	1	0	0	C	141291734	T	C	141291734	3	2	213	1	0	0	0	0	1	0	0	0	9231	1812	63	3	1085	3	MAGEC2	23	141291734	Missense_Mutation	SNP	T	TCGA-FG-A4MY-01A-11D-A26M-08	9770914	141291734	13978826	40	25575											
TMEM187	8269	broad.mit.edu	37	X	153247936	153247936	+	Silent	SNP	G	G	C			TCGA-FG-A4MY-01A-11D-A26M-08	TCGA-FG-A4MY-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e09da5-6fae-4bec-a234-735728c4b4ad	494f3477-0516-47ea-beaf-572109ff74f8	g.chrX:153247936G>C	ENST00000369982.4	+	2	1170	c.423G>C	c.(421-423)ctG>ctC	p.L141L		NM_003492.2	NP_003483.1	Q14656	TM187_HUMAN	transmembrane protein 187	141						integral to membrane|transport vesicle				breast(1)|large_intestine(1)|lung(1)|prostate(2)	5	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GGCCCTGGCTGTTCCTCTCTC	0.677													3	10					0	0	1	0	0	C	153247936	G	C	153247936	2	2	213	1	0	0	0	0	0	0	0	1	16169	1364	48	5		5	TMEM187	23	153247936	Silent	SNP	G	TCGA-FG-A4MY-01A-11D-A26M-08	11956202	153247936	2022624	41	25576											
SH2D1B	117157	broad.mit.edu	37	1	162381781	162381781	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chr1:162381781C>T	ENST00000367929.2	-	1	135	c.26G>A	c.(25-27)cGt>cAt	p.R9H	SH2D1B_ENST00000359567.3_Missense_Mutation_p.R9H|SH2D1B_ENST00000493550.1_5'UTR	NM_053282.4	NP_444512.2	O14796	SH21B_HUMAN	SH2 domain containing 1B	9	SH2.									kidney(1)|large_intestine(1)|lung(4)|pancreas(1)	7	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.126)			CTTGGTCAGACGTCCATGGTA	0.532													10	74					0	0	1	0	0	T	162381781	C	T	162381781	3	4	214	1	0	0	0	0	1	0	0	0	14285	536	19	1	388	1	SH2D1B	1	162381781	Missense_Mutation	SNP	C	TCGA-FG-A60J-01A-11D-A289-08		162381781	86868840	1	25577											
OR2M3	127062	broad.mit.edu	37	1	248366698	248366698	+	Missense_Mutation	SNP	C	C	G			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chr1:248366698C>G	ENST00000456743.1	+	1	367	c.329C>G	c.(328-330)tCt>tGt	p.S110C		NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M, member 3	110					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			CTGCTTGGCTCTGAGTGCTTT	0.458													22	286					0	0	1	0	0	G	248366698	C	G	248366698	3	3	214	1	0	0	0	0	1	0	0	0	11059	913	32	4	331	4	OR2M3	1	248366698	Missense_Mutation	SNP	C	TCGA-FG-A60J-01A-11D-A289-08	85984917	248366698	883923	2	25578											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								14	43					0	0	1	0	0	T	209113112	C	T	209113112	3	4	214	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-FG-A60J-01A-11D-A289-08		209113112	34086261	3	25579											
SEC61A1	29927	broad.mit.edu	37	3	127786281	127786281	+	Silent	SNP	C	C	T			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chr3:127786281C>T	ENST00000243253.3	+	10	1177	c.993C>T	c.(991-993)ggC>ggT	p.G331G	SEC61A1_ENST00000424880.2_Silent_p.G211G|SEC61A1_ENST00000483956.1_3'UTR|SEC61A1_ENST00000464451.1_Silent_p.G337G|RUVBL1_ENST00000464873.1_Intron	NM_013336.3	NP_037468.1	P61619	S61A1_HUMAN	Sec61 alpha 1 subunit (S. cerevisiae)	331					protein targeting to ER	integral to endoplasmic reticulum membrane	P-P-bond-hydrolysis-driven protein transmembrane transporter activity|protein binding|ribosome binding			central_nervous_system(1)|kidney(1)|large_intestine(5)|liver(1)|lung(8)|ovary(1)|prostate(4)	21						CTTCTGGGGGCCCAGCACGTG	0.483													51	97					0	0	1	0	0	T	127786281	C	T	127786281	2	4	214	1	0	0	0	0	0	0	0	1	14054	726	26	2		2	SEC61A1	3	127786281	Silent	SNP	C	TCGA-FG-A60J-01A-11D-A289-08		127786281	70236149	4	25580											
PIK3R4	30849	broad.mit.edu	37	3	130463923	130463923	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chr3:130463923T>C	ENST00000356763.3	-	2	697	c.140A>G	c.(139-141)gAa>gGa	p.E47G		NM_014602.2	NP_055417.1	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	47	Protein kinase.				fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	77						GACCAGGCCTTCTCGGTGCTT	0.408													16	35					0	0	1	0	0	C	130463923	T	C	130463923	3	2	214	1	0	0	0	0	1	0	0	0	11969	1783	62	3	4012	3	PIK3R4	3	130463923	Missense_Mutation	SNP	T	TCGA-FG-A60J-01A-11D-A289-08	2677642	130463923	67558507	5	25581											
CPZ	8532	broad.mit.edu	37	4	8603122	8603122	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chr4:8603122G>A	ENST00000360986.4	+	3	568	c.394G>A	c.(394-396)Gcc>Acc	p.A132T	CPZ_ENST00000315782.6_Missense_Mutation_p.A121T|CPZ_ENST00000382480.2_5'UTR|CPZ_ENST00000506287.1_3'UTR	NM_001014447.2	NP_001014447	Q66K79	CBPZ_HUMAN	carboxypeptidase Z	132	FZ.				proteolysis|Wnt receptor signaling pathway	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						CTGCCAGCCCGCCTTCGACGC	0.677													5	10					0	0	1	0	0	A	8603122	G	A	8603122	3	1	214	1	0	0	0	0	1	0	0	0	3862	1087	38	1	404	1	CPZ	4	8603122	Missense_Mutation	SNP	G	TCGA-FG-A60J-01A-11D-A289-08		8603122	182551154	6	25582											
TMEM155	132332	broad.mit.edu	37	4	122681459	122681459	+	Missense_Mutation	SNP	T	T	A			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chr4:122681459T>A	ENST00000337677.5	-	6	941	c.383A>T	c.(382-384)aAg>aTg	p.K128M	TMEM155_ENST00000394396.1_Missense_Mutation_p.K128M|TMEM155_ENST00000394394.1_Missense_Mutation_p.K128M	NM_152399.2	NP_689612.2	Q4W5P6	TM155_HUMAN	transmembrane protein 155	128						extracellular region				breast(1)|lung(5)	6						tcagacaatcttgcagatagc	0.403													16	28					0	0	1	0	0	A	122681459	T	A	122681459	3	1	214	1	0	0	0	0	1	0	0	0	16132	1609	56	5	13	5	TMEM155	4	122681459	Missense_Mutation	SNP	T	TCGA-FG-A60J-01A-11D-A289-08	114078337	122681459	68472817	7	25583											
STK19	8859	broad.mit.edu	37	6	31939829	31939830	+	Frame_Shift_Ins	INS	-	-	A			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chr6:31939829_31939830insA	ENST00000375331.2	+	1	222_223	c.56_57insA	c.(55-60)gcaaacfs	p.N20fs	DXO_ENST00000337523.5_5'UTR|STK19_ENST00000375333.2_Frame_Shift_Ins_p.N20fs|DXO_ENST00000375349.3_5'UTR|DXO_ENST00000478221.1_5'UTR	NM_004197.1	NP_004188.1	P49842	STK19_HUMAN	serine/threonine kinase 19	20						nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			skin(5)|upper_aerodigestive_tract(2)	7						CAGTGGCGGGCAAACCCCTCCC	0.634													7	214	---	---	---	---						A	31939830	-	A	31939829	7	5	214	1	0	1	1	0	0	0	0	0	15348	710	25	0	58	0	STK19	6	31939829	Frame_Shift_Ins	INS	-	TCGA-FG-A60J-01A-11D-A289-08		31939829	139175238	8	25584											
HOXA7	3204	broad.mit.edu	37	7	27196035	27196035	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chr7:27196035C>T	ENST00000242159.3	-	1	263	c.130G>A	c.(130-132)Gcc>Acc	p.A44T		NM_006896.3	NP_008827.2	P31268	HXA7_HUMAN	homeobox A7	44					angiogenesis|negative regulation of cell-matrix adhesion|negative regulation of keratinocyte differentiation|negative regulation of leukocyte migration|negative regulation of monocyte differentiation|negative regulation of transcription from RNA polymerase II promoter		sequence-specific DNA binding|transcription factor binding			endometrium(3)|large_intestine(1)|lung(10)|prostate(1)|urinary_tract(1)	16						AAGGCGCCGGCGCCCGCCCCG	0.607													23	143					0	0	1	0	0	T	27196035	C	T	27196035	3	4	214	1	0	0	0	0	1	0	0	0	7338	768	27	1	570	1	HOXA7	7	27196035	Missense_Mutation	SNP	C	TCGA-FG-A60J-01A-11D-A289-08		27196035	131942628	9	25585											
LETM2	137994	broad.mit.edu	37	8	38262000	38262000	+	Silent	SNP	G	G	A			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chr8:38262000G>A	ENST00000379957.4	+	8	1321	c.1194G>A	c.(1192-1194)ccG>ccA	p.P398P	LETM2_ENST00000297720.5_Silent_p.P303P|LETM2_ENST00000528827.1_3'UTR|LETM2_ENST00000523983.2_Silent_p.P351P|LETM2_ENST00000527710.1_Silent_p.P184P|LETM2_ENST00000524874.1_Silent_p.P350P	NM_001199659.1	NP_001186588.1	Q2VYF4	LETM2_HUMAN	leucine zipper-EF-hand containing transmembrane protein 2	398						integral to membrane|mitochondrial inner membrane				NS(1)|large_intestine(1)|lung(3)|prostate(2)	7	all_cancers(2;6.77e-47)|all_epithelial(2;1.01e-50)|all_lung(3;1.25e-23)|Lung NSC(2;2.76e-23)|Colorectal(12;0.000442)|Esophageal squamous(3;0.00202)	all_lung(54;0.0657)|Hepatocellular(245;0.152)|Lung NSC(58;0.175)	Epithelial(3;1.17e-42)|all cancers(3;5.44e-38)|BRCA - Breast invasive adenocarcinoma(5;5.44e-27)|LUSC - Lung squamous cell carcinoma(2;7.12e-25)|Lung(2;4.49e-22)|COAD - Colon adenocarcinoma(9;0.114)			AGCCCAAGCCGATTGAGATAC	0.557													10	57					0	0	1	0	0	A	38262000	G	A	38262000	2	1	214	1	0	0	0	0	0	0	0	1	8774	1045	37	1		1	LETM2	8	38262000	Silent	SNP	G	TCGA-FG-A60J-01A-11D-A289-08		38262000	108102022	10	25586											
XKR4	114786	broad.mit.edu	37	8	56436610	56436610	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chr8:56436610T>C	ENST00000327381.6	+	3	1877	c.1777T>C	c.(1777-1779)Tca>Cca	p.S593P		NM_052898.1	NP_443130.1	Q5GH76	XKR4_HUMAN	XK, Kell blood group complex subunit-related family, member 4							integral to membrane				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34			Epithelial(17;0.000117)|all cancers(17;0.000836)			GATTGAAGAATCAGTCATTAA	0.488													31	61					0	0	1	0	0	C	56436610	T	C	56436610	3	2	214	1	0	0	0	0	1	0	0	0	17493	1435	50	3	1787	3	XKR4	8	56436610	Missense_Mutation	SNP	T	TCGA-FG-A60J-01A-11D-A289-08	18174610	56436610	89927412	11	25587											
FAM154A	158297	broad.mit.edu	37	9	18928550	18928550	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chr9:18928550C>T	ENST00000380534.4	-	4	1204	c.925G>A	c.(925-927)Gcc>Acc	p.A309T	FAM154A_ENST00000542071.1_Missense_Mutation_p.A117T|FAM154A_ENST00000380530.1_3'UTR	NM_153707.2	NP_714918.2	Q8IYX7	F154A_HUMAN	family with sequence similarity 154, member A	309										breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|skin(1)	26				GBM - Glioblastoma multiforme(50;6.53e-16)		GTGTAATGGGCCTGCACTGTT	0.547													46	58					0	0	1	0	0	T	18928550	C	T	18928550	3	4	214	1	0	0	0	0	1	0	0	0	5493	739	26	2	503	2	FAM154A	9	18928550	Missense_Mutation	SNP	C	TCGA-FG-A60J-01A-11D-A289-08		18928550	122284881	12	25588											
TLL2	7093	broad.mit.edu	37	10	98129891	98129891	+	Silent	SNP	G	G	A			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chr10:98129891G>A	ENST00000357947.3	-	20	3069	c.2844C>T	c.(2842-2844)taC>taT	p.Y948Y		NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN	tolloid-like 2	948	CUB 5.				cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		CCATGTAGTCGTAGCCGCAGT	0.667													11	81					0	0	1	0	0	A	98129891	G	A	98129891	2	1	214	1	0	0	0	0	0	0	0	1	16006	1140	40	1		1	TLL2	10	98129891	Silent	SNP	G	TCGA-FG-A60J-01A-11D-A289-08		98129891	37404856	13	25589											
OR5I1	10798	broad.mit.edu	37	11	55703053	55703053	+	Missense_Mutation	SNP	A	A	G			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chr11:55703053A>G	ENST00000301532.3	-	1	823	c.824T>C	c.(823-825)aTt>aCt	p.I275T		NM_006637.1	NP_006628.1	Q13606	OR5I1_HUMAN	olfactory receptor, family 5, subfamily I, member 1	275					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(34)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						CACTGAGATAATTTTATCAGT	0.408													16	27					0	0	1	0	0	G	55703053	A	G	55703053	3	3	214	1	0	0	0	0	1	0	0	0	11211	101	4	3	123	3	OR5I1	11	55703053	Missense_Mutation	SNP	A	TCGA-FG-A60J-01A-11D-A289-08		55703053	79303463	14	25590											
LRRC55	219527	broad.mit.edu	37	11	56949447	56949447	+	Missense_Mutation	SNP	A	A	G			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chr11:56949447A>G	ENST00000497933.1	+	1	227	c.80A>G	c.(79-81)gAc>gGc	p.D27G		NM_001005210.2	NP_001005210.1	Q6ZSA7	LRC55_HUMAN	leucine rich repeat containing 55	0						integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|skin(2)	25						GATTCCATGGACACAGTCCTC	0.607													11	58					0	0	1	0	0	G	56949447	A	G	56949447	3	3	214	1	0	0	0	0	1	0	0	0	9056	275	10	3	82	3	LRRC55	11	56949447	Missense_Mutation	SNP	A	TCGA-FG-A60J-01A-11D-A289-08	1246394	56949447	78057069	15	25591											
TMEM216	51259	broad.mit.edu	37	11	61161357	61161357	+	Splice_Site	SNP	T	T	G			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chr11:61161357T>G	ENST00000515837.2	+	3	1083	c.138T>G	c.(136-138)ggT>ggG	p.G46G	TMEM216_ENST00000334888.5_Splice_Site_p.G46G|TMEM216_ENST00000398979.3_5'UTR			Q9P0N5	TM216_HUMAN	transmembrane protein 216	39						integral to membrane		p.G46G(3)		endometrium(1)|large_intestine(2)|lung(1)|prostate(2)	6						TATTGGCAGGTGTCCTGCTAC	0.438													7	27					0	0	1	0	0	G	61161357	T	G	61161357	5	3	214	1	0	0	0	0	0	0	1	0	16199	1710	59	5	148	5	TMEM216	11	61161357	Splice_Site	SNP	T	TCGA-FG-A60J-01A-11D-A289-08	4211910	61161357	73845159	16	25592											
CASP1	834	broad.mit.edu	37	11	104897057	104897057	+	Missense_Mutation	SNP	A	A	C			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chr11:104897057A>C	ENST00000533400.1	-	9	1178	c.1143T>G	c.(1141-1143)gaT>gaG	p.D381E	CASP1_ENST00000527979.1_Missense_Mutation_p.D344E|CASP1_ENST00000526568.1_Missense_Mutation_p.D288E|CASP1_ENST00000525825.1_Missense_Mutation_p.D360E|CASP1_ENST00000598974.1_Missense_Mutation_p.D381E|CASP1_ENST00000446369.1_Missense_Mutation_p.D240E|CASP1_ENST00000353247.5_Missense_Mutation_p.D65E|CASP1_ENST00000393136.4_Missense_Mutation_p.D360E|CASP1_ENST00000593315.1_Missense_Mutation_p.D360E|CASP1_ENST00000436863.3_Missense_Mutation_p.D381E|CASP1_ENST00000415981.2_Missense_Mutation_p.D65E|CASP1_ENST00000531166.1_Missense_Mutation_p.D65E|CASP1_ENST00000534497.1_Missense_Mutation_p.D240E|CASP1_ENST00000594519.1_Missense_Mutation_p.D240E	NM_001257118.1	NP_001244047.1	P29466	CASP1_HUMAN	caspase 1, apoptosis-related cysteine peptidase	381					cellular response to mechanical stimulus|cellular response to organic substance|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis|signal transduction	cytosol	caspase activator activity|cysteine-type endopeptidase activity|protein binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000525)|Epithelial(105;0.0128)|all cancers(92;0.0482)	Minocycline(DB01017)|Penicillamine(DB00859)	GCGCTCTACCATCTGGCTGCT	0.393													7	67					0	0	1	0	0	C	104897057	A	C	104897057	3	2	214	1	0	0	0	0	1	0	0	0	2686	214	8	4	75	4	CASP1	11	104897057	Missense_Mutation	SNP	A	TCGA-FG-A60J-01A-11D-A289-08	43735700	104897057	30109459	17	25593											
CLEC12A	160364	broad.mit.edu	37	12	10131591	10131591	+	Missense_Mutation	SNP	C	C	T	rs141455664	byFrequency	TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chr12:10131591C>T	ENST00000304361.4	+	2	300	c.118C>T	c.(118-120)Cgt>Tgt	p.R40C	CLEC12A_ENST00000434319.2_Missense_Mutation_p.R40C|CLEC12A_ENST00000355690.4_Missense_Mutation_p.R50C|CLEC12A_ENST00000350667.4_Intron	NM_138337.5|NM_201623.3	NP_612210.4|NP_963917.2	Q5QGZ9	CL12A_HUMAN	C-type lectin domain family 12, member A	40						integral to membrane|plasma membrane	receptor activity|sugar binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	16						TCATGTATGGCGTCCAGCAGC	0.433													39	62					0	0	1	0	0	T	10131591	C	T	10131591	3	4	214	1	0	0	0	0	1	0	0	0	3520	768	27	1	124	1	CLEC12A	12	10131591	Missense_Mutation	SNP	C	TCGA-FG-A60J-01A-11D-A289-08		10131591	123720304	18	25594											
ASCL1	429	broad.mit.edu	37	12	103352171	103352172	+	In_Frame_Ins	INS	-	-	GCA	rs71438488		TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chr12:103352171_103352172insGCA	ENST00000266744.3	+	1	708_709	c.149_150insGCA	c.(148-153)gcgcag>gcGCAgcag	p.62_63insQ		NM_004316.3	NP_004307.2	P50553	ASCL1_HUMAN	achaete-scute family bHLH transcription factor 1	62	Poly-Gln.			Q -> QQQ (in Ref. 1).	cerebral cortex GABAergic interneuron differentiation|negative regulation of apoptosis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|noradrenergic neuron fate commitment|Notch signaling pathway|positive regulation of neuron differentiation|positive regulation of transcription from RNA polymerase II promoter|response to retinoic acid|sympathetic nervous system development	nucleus	bHLH transcription factor binding|E-box binding|sequence-specific DNA binding transcription factor activity|transcription factor binding transcription factor activity			NS(3)|large_intestine(1)|lung(1)	5						gcgcagagcgcgcagcagcagc	0.757													5	3	---	---	---	---						GCA	103352172	-	GCA	103352171	7	5	214	1	0	1	1	0	0	0	0	0	1033	768	27	0	151	0	ASCL1	12	103352171	In_Frame_Ins	INS	-	TCGA-FG-A60J-01A-11D-A289-08	93220580	103352171	30499724	19	25595											
SRRM4	84530	broad.mit.edu	37	12	119592158	119592158	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chr12:119592158C>T	ENST00000267260.4	+	12	1890	c.1502C>T	c.(1501-1503)cCg>cTg	p.P501L		NM_194286.3	NP_919262.2	A7MD48	SRRM4_HUMAN	serine/arginine repetitive matrix 4	501	Arg-rich.|Ser-rich.				cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						AGAGACTCCCCGAGCCACCTG	0.632													17	19					0	0	1	0	0	T	119592158	C	T	119592158	3	4	214	1	0	0	0	0	1	0	0	0	15227	652	23	1	1548	1	SRRM4	12	119592158	Missense_Mutation	SNP	C	TCGA-FG-A60J-01A-11D-A289-08	16239987	119592158	14259737	20	25596											
LATS2	26524	broad.mit.edu	37	13	21562142	21562142	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chr13:21562142G>A	ENST00000382592.4	-	4	2182	c.1777C>T	c.(1777-1779)Cgc>Tgc	p.R593C	LATS2_ENST00000542899.1_Missense_Mutation_p.R593C	NM_014572.2	NP_055387.2	Q9NRM7	LATS2_HUMAN	large tumor suppressor kinase 2	593					cell division|G1/S transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|intracellular protein kinase cascade|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity	microtubule organizing center|nucleus|spindle pole	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2)	45		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)		CTCTTGATGCGTGACTCTCTC	0.512													18	103					0	0	1	0	0	A	21562142	G	A	21562142	3	1	214	1	0	0	0	0	1	0	0	0	8686	1145	40	1	1509	1	LATS2	13	21562142	Missense_Mutation	SNP	G	TCGA-FG-A60J-01A-11D-A289-08		21562142	93607736	21	25597											
SYNE2	23224	broad.mit.edu	37	14	64683079	64683079	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chr14:64683079T>C	ENST00000357395.3	+	108	19746	c.8602T>C	c.(8602-8604)Tcc>Ccc	p.S2868P	SYNE2_ENST00000458046.2_Missense_Mutation_p.S140P|SYNE2_ENST00000555002.1_Missense_Mutation_p.S3140P|SYNE2_ENST00000441438.2_Missense_Mutation_p.S14P|SYNE2_ENST00000358025.3_Missense_Mutation_p.S6506P|SYNE2_ENST00000555022.1_Missense_Mutation_p.S361P|SYNE2_ENST00000554805.1_Missense_Mutation_p.S266P|SYNE2_ENST00000344113.4_Missense_Mutation_p.S6483P|SYNE2_ENST00000394768.2_Missense_Mutation_p.S2868P|SYNE2_ENST00000554584.1_Missense_Mutation_p.S6425P|ESR2_ENST00000542956.1_Intron			Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	6483					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TCCCCCTGCGTCCAGCACCCC	0.498													34	46					0	0	1	0	0	C	64683079	T	C	64683079	3	2	214	1	0	0	0	0	1	0	0	0	15503	1667	58	3	19942	3	SYNE2	14	64683079	Missense_Mutation	SNP	T	TCGA-FG-A60J-01A-11D-A289-08		64683079	42666461	22	25598											
CHRNA5	1138	broad.mit.edu	37	15	78882881	78882881	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chr15:78882881G>A	ENST00000299565.5	+	5	1348	c.1148G>A	c.(1147-1149)gGt>gAt	p.G383D	CHRNA5_ENST00000559554.1_Intron|RP11-650L12.2_ENST00000567141.1_RNA	NM_000745.3	NP_000736.2	P30532	ACHA5_HUMAN	cholinergic receptor, nicotinic, alpha 5 (neuronal)	383					behavioral response to nicotine	cell junction|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)|skin(3)	15						ACTGAGAGTGGTAGTGGACCA	0.438													32	56					0	0	1	0	0	A	78882881	G	A	78882881	3	1	214	1	0	0	0	0	1	0	0	0	3408	1261	44	2	1166	2	CHRNA5	15	78882881	Missense_Mutation	SNP	G	TCGA-FG-A60J-01A-11D-A289-08		78882881	23648511	23	25599											
ABR	29	broad.mit.edu	37	17	915191	915191	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chr17:915191G>A	ENST00000544583.2	-	19	2457	c.1858C>T	c.(1858-1860)Cag>Tag	p.Q620*	ABR_ENST00000302538.5_Nonsense_Mutation_p.Q666*|ABR_ENST00000543210.2_Nonsense_Mutation_p.Q117*|ABR_ENST00000291107.2_Nonsense_Mutation_p.Q629*|ABR_ENST00000536794.2_Nonsense_Mutation_p.Q448*|ABR_ENST00000572441.1_Nonsense_Mutation_p.Q117*|ABR_ENST00000574437.1_Nonsense_Mutation_p.Q620*	NM_001159746.2	NP_001153218.1	Q12979	ABR_HUMAN	active BCR-related	666					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39				UCEC - Uterine corpus endometrioid carcinoma (25;0.0228)		TCCACACACTGCCGGACGATG	0.652													48	73					0	0	1	0	0	A	915191	G	A	915191	4	1	214	1	0	0	0	0	0	1	0	0	99	1328	46	2	603	2	ABR	17	915191	Nonsense_Mutation	SNP	G	TCGA-FG-A60J-01A-11D-A289-08		915191	80280019	24	25600											
ZZEF1	23140	broad.mit.edu	37	17	4046085	4046085	+	Frame_Shift_Del	DEL	G	G	-			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chr17:4046085delG	ENST00000381638.2	-	1	229	c.105delC	c.(103-105)cccfs	p.P35fs	ZZEF1_ENST00000574474.1_5'UTR	NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	35							calcium ion binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						CGCCCGGGCCGGGGGTCGTGC	0.751													2	4	---	---	---	---						-	4046085	G	-	4046085	7	5	214	1	0	1	0	1	0	0	0	0	18295	1103	39	0	9000	0	ZZEF1	17	4046085	Frame_Shift_Del	DEL	G	TCGA-FG-A60J-01A-11D-A289-08	3130894	4046085	77149125	25	25601											
ARRB2	409	broad.mit.edu	37	17	4619834	4619834	+	Silent	SNP	G	G	C			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chr17:4619834G>C	ENST00000269260.2	+	5	521	c.288G>C	c.(286-288)cgG>cgC	p.R96R	ARRB2_ENST00000571206.1_5'UTR|ARRB2_ENST00000575877.1_Silent_p.R96R|ARRB2_ENST00000572457.1_5'UTR|ARRB2_ENST00000570718.1_3'UTR|ARRB2_ENST00000412477.3_Silent_p.R96R|ARRB2_ENST00000574954.1_5'UTR|ARRB2_ENST00000346341.2_Silent_p.R81R|ARRB2_ENST00000381488.6_Silent_p.R81R	NM_001257328.1|NM_001257330.1|NM_004313.3	NP_001244257.1|NP_001244259.1|NP_004304.1	P32121	ARRB2_HUMAN	arrestin, beta 2	96					cell chemotaxis|desensitization of G-protein coupled receptor protein signaling pathway by arrestin|G-protein coupled receptor internalization|negative regulation of natural killer cell mediated cytotoxicity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|platelet activation|positive regulation of ERK1 and ERK2 cascade|proteasomal ubiquitin-dependent protein catabolic process|protein transport|protein ubiquitination|transcription from RNA polymerase II promoter|transforming growth factor beta receptor signaling pathway	coated pit|cytoplasmic membrane-bounded vesicle|cytosol|nucleus|plasma membrane	angiotensin receptor binding|ubiquitin protein ligase binding			large_intestine(1)|liver(2)|lung(3)|prostate(1)	7						ACCCACCCCGGCCCCCCACCC	0.672													7	20					0	0	1	0	0	C	4619834	G	C	4619834	2	2	214	1	0	0	0	0	0	0	0	1	980	1190	42	5		5	ARRB2	17	4619834	Silent	SNP	G	TCGA-FG-A60J-01A-11D-A289-08	573749	4619834	76575376	26	25602											
TP53	7157	broad.mit.edu	37	17	7577157	7577157	+	Splice_Site	SNP	T	T	G			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chr17:7577157T>G	ENST00000420246.2	-	8	915		c.e8-2		TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000269305.4_Splice_Site|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000445888.2_Splice_Site	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53						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.?(11)|p.0?(8)|p.E258fs*71(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)		AGATTACCACTACTCAGGATA	0.512		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)			11	13					0	0	1	0	0	G	7577157	T	G	7577157	5	3	214	1	0	0	0	0	0	0	1	0	16442	1536	53	5	505	5	TP53	17	7577157	Splice_Site	SNP	T	TCGA-FG-A60J-01A-11D-A289-08	2957323	7577157	73618053	27	25603											
TP53	7157	broad.mit.edu	37	17	7577574	7577574	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chr17:7577574T>C	ENST00000420246.2	-	7	839	c.707A>G	c.(706-708)tAc>tGc	p.Y236C	TP53_ENST00000455263.2_Missense_Mutation_p.Y236C|TP53_ENST00000269305.4_Missense_Mutation_p.Y236C|TP53_ENST00000413465.2_Missense_Mutation_p.Y236C|TP53_ENST00000359597.4_Missense_Mutation_p.Y236C|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000445888.2_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	0.572		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)			40	36					0	0	1	0	0	C	7577574	T	C	7577574	3	2	214	1	0	0	0	0	1	0	0	0	16442	1638	57	3	583	3	TP53	17	7577574	Missense_Mutation	SNP	T	TCGA-FG-A60J-01A-11D-A289-08	417	7577574	73617636	28	25604											
HS3ST3A1	9955	broad.mit.edu	37	17	13400056	13400056	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chr17:13400056C>T	ENST00000284110.1	-	2	1476	c.679G>A	c.(679-681)Gcg>Acg	p.A227T	HS3ST3A1_ENST00000578576.1_Missense_Mutation_p.A25T	NM_006042.1	NP_006033.1	Q9Y663	HS3SA_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 3A1	227						Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 3 activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_lung(20;0.114)		UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		GAGATGCGCGCGGGGGCCTCC	0.627													51	162					0	0	1	0	0	T	13400056	C	T	13400056	3	4	214	1	0	0	0	0	1	0	0	0	7406	768	27	1	545	1	HS3ST3A1	17	13400056	Missense_Mutation	SNP	C	TCGA-FG-A60J-01A-11D-A289-08	5822482	13400056	67795154	29	25605											
TRIM16	10626	broad.mit.edu	37	17	15532459	15532459	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chr17:15532459G>A	ENST00000455584.2	-	6	1208	c.1165C>T	c.(1165-1167)Cag>Tag	p.Q389*	TRIM16_ENST00000416464.2_Nonsense_Mutation_p.Q259*|TRIM16_ENST00000579219.1_Silent_p.C85C|TRIM16_ENST00000577886.1_Nonsense_Mutation_p.Q173*|TRIM16_ENST00000336708.7_Nonsense_Mutation_p.Q389*|TRIM16_ENST00000578237.1_Nonsense_Mutation_p.Q389*																							TTCTCCTCCTGCAGCCGGAGA	0.602													9	69					0	0	1	0	0	A	15532459	G	A	15532459	4	1	214	1	0	0	0	0	0	1	0	0	16552	1328	46	2	533	2	TRIM16	17	15532459	Nonsense_Mutation	SNP	G	TCGA-FG-A60J-01A-11D-A289-08	2132403	15532459	65662751	30	25606											
SSTR3	6753	broad.mit.edu	37	22	37603530	37603530	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chr22:37603530C>T	ENST00000328544.3	-	2	846	c.313G>A	c.(313-315)Gcc>Acc	p.A105T	SSTR3_ENST00000402501.1_Missense_Mutation_p.A105T	NM_001051.3	NP_001042.1	P32745	SSR3_HUMAN	somatostatin receptor 3	105					G-protein signaling, coupled to cyclic nucleotide second messenger|induction of apoptosis by hormones|negative regulation of cell proliferation	integral to plasma membrane|nonmotile primary cilium	somatostatin receptor activity			NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)	14						TAGGACAGGGCGTTCTGGGCG	0.622													52	73					0	0	1	0	0	T	37603530	C	T	37603530	3	4	214	1	0	0	0	0	1	0	0	0	15255	768	27	1	947	1	SSTR3	22	37603530	Missense_Mutation	SNP	C	TCGA-FG-A60J-01A-11D-A289-08		37603530	13701036	31	25607											
MPPED1	758	broad.mit.edu	37	22	43898541	43898541	+	Missense_Mutation	SNP	C	C	A			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chr22:43898541C>A	ENST00000417669.2	+	6	1210	c.766C>A	c.(766-768)Ccc>Acc	p.P256T	MPPED1_ENST00000538182.1_Missense_Mutation_p.P289T|MPPED1_ENST00000439548.1_Missense_Mutation_p.P98T|MPPED1_ENST00000414469.2_Missense_Mutation_p.P150T|MPPED1_ENST00000443721.1_Missense_Mutation_p.P256T|MPPED1_ENST00000542779.1_Missense_Mutation_p.P256T			O15442	MPPD1_HUMAN	metallophosphoesterase domain containing 1								hydrolase activity			endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|skin(1)	13		all_neural(38;0.0244)|Ovarian(80;0.0694)				GGACTGGGTCCCCAAGAAGAT	0.632													16	137					1.37285e-15	1.42669e-15	1	1	0	A	43898541	C	A	43898541	3	1	214	1	0	0	0	0	1	0	0	0	9790	623	22	5	664	5	MPPED1	22	43898541	Missense_Mutation	SNP	C	TCGA-FG-A60J-01A-11D-A289-08	6295011	43898541	7406025	32	25608											
ZNF81	347344	broad.mit.edu	37	X	47774744	47774744	+	Silent	SNP	T	T	C			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chrX:47774744T>C	ENST00000376954.1	+	6	1067	c.699T>C	c.(697-699)taT>taC	p.Y233Y	ZNF81_ENST00000338637.7_Silent_p.Y233Y			P51508	ZNF81_HUMAN	zinc finger protein 81	233						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|large_intestine(1)|lung(1)|skin(1)	4		all_lung(315;0.0973)				ACTCTTCTTATAGTCACCACG	0.363													9	79					0	0	1	0	0	C	47774744	T	C	47774744	2	2	214	1	0	0	0	0	0	0	0	1	18222	1413	49	3		3	ZNF81	23	47774744	Silent	SNP	T	TCGA-FG-A60J-01A-11D-A289-08		47774744	107495816	33	25609											
GRIPAP1	56850	broad.mit.edu	37	X	48831681	48831681	+	Silent	SNP	C	C	G			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chrX:48831681C>G	ENST00000376441.1	-	25	2353	c.2319G>C	c.(2317-2319)ctG>ctC	p.L773L	GRIPAP1_ENST00000376444.3_Silent_p.L728L|GRIPAP1_ENST00000376425.3_Silent_p.L742L	NM_020137.3	NP_064522.3	Q4V328	GRAP1_HUMAN	GRIP1 associated protein 1	773						early endosome				breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(2)	10						GGACGCTGCCCAGCCCGCTGC	0.607													22	33					0	0	1	0	0	G	48831681	C	G	48831681	2	3	214	1	0	0	0	0	0	0	0	1	6830	581	21	5		5	GRIPAP1	23	48831681	Silent	SNP	C	TCGA-FG-A60J-01A-11D-A289-08	1056937	48831681	106438879	34	25610											
AR	367	broad.mit.edu	37	X	66863188	66863188	+	Silent	SNP	G	G	C			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chrX:66863188G>C	ENST00000374690.3	+	2	2231	c.1707G>C	c.(1705-1707)ggG>ggC	p.G569G	AR_ENST00000513847.1_3'UTR|AR_ENST00000396044.3_Silent_p.G569G|AR_ENST00000504326.1_Silent_p.G569G|AR_ENST00000396043.2_Silent_p.G37G	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN	androgen receptor	568					cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport	cytoplasm|nuclear chromatin|nucleoplasm	androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624)	AAGCTTCTGGGTGTCACTATG	0.493									Androgen Insensitivity Syndrome				5	43					0	0	1	0	0	C	66863188	G	C	66863188	2	2	214	1	0	0	0	0	0	0	0	1	833	1248	44	5		5	AR	23	66863188	Silent	SNP	G	TCGA-FG-A60J-01A-11D-A289-08	18031507	66863188	88407372	35	25611											
OGT	8473	broad.mit.edu	37	X	70776956	70776956	+	Splice_Site	SNP	G	G	T			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chrX:70776956G>T	ENST00000373719.3	+	10	1537		c.e10+1		OGT_ENST00000373701.3_Splice_Site	NM_181672.2|NM_181673.2	NP_858058.1|NP_858059.1	O15294	OGT1_HUMAN	O-linked N-acetylglucosamine (GlcNAc) transferase						cellular response to retinoic acid|positive regulation of granulocyte differentiation|positive regulation of histone H3-K4 methylation|positive regulation of proteolysis|protein O-linked glycosylation|signal transduction	cytosol|MLL5-L complex	enzyme activator activity|protein binding|protein N-acetylglucosaminyltransferase activity			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Renal(35;0.156)					CATTCATAAGGTACTACTGTT	0.368													4	31					5.9392e-07	5.9392e-07	1	1	0	T	70776956	G	T	70776956	5	4	214	1	0	0	0	0	0	0	1	0	10895	1275	44	5	1359	5	OGT	23	70776956	Splice_Site	SNP	G	TCGA-FG-A60J-01A-11D-A289-08	3913768	70776956	84493604	36	25612											
RGAG4	340526	broad.mit.edu	37	X	71350423	71350423	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chrX:71350423C>T	ENST00000545866.1	-	1	1335	c.968G>A	c.(967-969)cGa>cAa	p.R323Q	RGAG4_ENST00000609883.1_Missense_Mutation_p.R323Q|NHSL2_ENST00000540800.1_Intron	NM_001024455.3	NP_001019626.1	Q5HYW3	RGAG4_HUMAN	retrotransposon gag domain containing 4	323										cervix(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|skin(1)	24	Renal(35;0.156)					GATGATATTTCGAACTCCAGG	0.493													59	111					0	0	1	0	0	T	71350423	C	T	71350423	3	4	214	1	0	0	0	0	1	0	0	0	13327	884	31	1	745	1	RGAG4	23	71350423	Missense_Mutation	SNP	C	TCGA-FG-A60J-01A-11D-A289-08	573467	71350423	83920137	37	25613											
CSTF2	1478	broad.mit.edu	37	X	100077401	100077401	+	Missense_Mutation	SNP	A	A	T			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chrX:100077401A>T	ENST00000415585.2	+	3	321	c.299A>T	c.(298-300)gAg>gTg	p.E100V	CSTF2_ENST00000372972.2_Missense_Mutation_p.E100V			P33240	CSTF2_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa	100					mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	cleavage body|mRNA cleavage and polyadenylation specificity factor complex	nucleotide binding|protein binding|RNA binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1)	13						AACAAAGAAGAGCTGAAGAGT	0.418													18	42					0	0	1	0	0	T	100077401	A	T	100077401	3	4	214	1	0	0	0	0	1	0	0	0	4009	304	11	5	309	5	CSTF2	23	100077401	Missense_Mutation	SNP	A	TCGA-FG-A60J-01A-11D-A289-08	28726978	100077401	55193159	38	25614											
DRP2	1821	broad.mit.edu	37	X	100490939	100490939	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chrX:100490939G>A	ENST00000395209.3	+	4	735	c.208G>A	c.(208-210)Gcc>Acc	p.A70T	DRP2_ENST00000541709.1_5'UTR|DRP2_ENST00000538510.1_Missense_Mutation_p.A70T|DRP2_ENST00000402866.1_Missense_Mutation_p.A70T	NM_001939.2	NP_001930.2	Q13474	DRP2_HUMAN	dystrophin related protein 2	70					central nervous system development	cytoplasm|cytoskeleton	zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	31						GTCTGTTGGTGCCTCTGGACC	0.517													95	185					0	0	1	0	0	A	100490939	G	A	100490939	3	1	214	1	0	0	0	0	1	0	0	0	4790	1319	46	2	214	2	DRP2	23	100490939	Missense_Mutation	SNP	G	TCGA-FG-A60J-01A-11D-A289-08	413538	100490939	54779621	39	25615											
SERPINA7	6906	broad.mit.edu	37	X	105280487	105280487	+	Missense_Mutation	SNP	A	A	C			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chrX:105280487A>C	ENST00000327674.4	-	1	898	c.563T>G	c.(562-564)cTa>cGa	p.L188R	SERPINA7_ENST00000372563.1_Missense_Mutation_p.L188R			P05543	THBG_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7	188					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|skin(3)	24					Levothyroxine(DB00451)|Liothyronine(DB00279)	GTCTTGAATTAGACCCACAAC	0.413													55	108					0	0	1	0	0	C	105280487	A	C	105280487	3	2	214	1	0	0	0	0	1	0	0	0	14148	420	15	5	700	5	SERPINA7	23	105280487	Missense_Mutation	SNP	A	TCGA-FG-A60J-01A-11D-A289-08	4789548	105280487	49990073	40	25616											
DOCK11	139818	broad.mit.edu	37	X	117773444	117773444	+	Missense_Mutation	SNP	T	T	A			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chrX:117773444T>A	ENST00000276204.6	+	38	4122	c.4048T>A	c.(4048-4050)Tcg>Acg	p.S1350T	DOCK11_ENST00000276202.7_Missense_Mutation_p.S1350T			Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	1350					blood coagulation	cytosol	GTP binding			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						AGACCGAAAATCGCAAACCAT	0.413													14	90					0	0	1	0	0	A	117773444	T	A	117773444	3	1	214	1	0	0	0	0	1	0	0	0	4713	1435	50	4	4198	4	DOCK11	23	117773444	Missense_Mutation	SNP	T	TCGA-FG-A60J-01A-11D-A289-08	12492957	117773444	37497116	41	25617											
ARHGAP36	158763	broad.mit.edu	37	X	130217833	130217833	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chrX:130217833C>T	ENST00000276211.5	+	4	790	c.445C>T	c.(445-447)Cgt>Tgt	p.R149C	ARHGAP36_ENST00000370922.1_Missense_Mutation_p.R137C|ARHGAP36_ENST00000370921.1_Missense_Mutation_p.R13C	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN	Rho GTPase activating protein 36	149	Arg-rich.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						GGCTGCGGGCCGTCGTCGGGG	0.622													15	240					0	0	1	0	0	T	130217833	C	T	130217833	3	4	214	1	0	0	0	0	1	0	0	0	880	652	23	1	455	1	ARHGAP36	23	130217833	Missense_Mutation	SNP	C	TCGA-FG-A60J-01A-11D-A289-08	12444389	130217833	25052727	42	25618											
GPR112	139378	broad.mit.edu	37	X	135428469	135428469	+	Silent	SNP	G	G	C			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chrX:135428469G>C	ENST00000394143.1	+	6	2895	c.2604G>C	c.(2602-2604)ctG>ctC	p.L868L	GPR112_ENST00000394141.1_Silent_p.L663L|GPR112_ENST00000287534.4_Silent_p.L805L|GPR112_ENST00000412101.1_Silent_p.L663L|GPR112_ENST00000370652.1_Silent_p.L868L	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	868					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					CAACAATGCTGGAAGTGACAG	0.398													21	225					0	0	1	0	0	C	135428469	G	C	135428469	2	2	214	1	0	0	0	0	0	0	0	1	6669	1335	47	5		5	GPR112	23	135428469	Silent	SNP	G	TCGA-FG-A60J-01A-11D-A289-08	5210636	135428469	19842091	43	25619											
GABRA3	2556	broad.mit.edu	37	X	151336930	151336930	+	Missense_Mutation	SNP	A	A	T			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chrX:151336930A>T	ENST00000370314.4	-	10	1487	c.1249T>A	c.(1249-1251)Tcc>Acc	p.S417T	GABRA3_ENST00000535043.1_Missense_Mutation_p.S417T|RP11-329E24.6_ENST00000453915.1_RNA	NM_000808.3	NP_000799.1	P34903	GBRA3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 3	417					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(6)	37	Acute lymphoblastic leukemia(192;6.56e-05)				Alprazolam(DB00404)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	GCGCCCTTGGAGATGGTGGAA	0.552													14	280					0	0	1	0	0	T	151336930	A	T	151336930	3	4	214	1	0	0	0	0	1	0	0	0	6197	304	11	5	233	5	GABRA3	23	151336930	Missense_Mutation	SNP	A	TCGA-FG-A60J-01A-11D-A289-08	15908461	151336930	3933630	44	25620											
NAA10	8260	broad.mit.edu	37	X	153195616	153195616	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chrX:153195616T>C	ENST00000464845.1	-	8	850	c.532A>G	c.(532-534)Aac>Gac	p.N178D	NAA10_ENST00000370009.1_Missense_Mutation_p.N163D|NAA10_ENST00000393712.3_3'UTR|NAA10_ENST00000370015.4_3'UTR	NM_001256120.1|NM_003491.3	NP_001243049.1|NP_003482.1	P41227	NAA10_HUMAN	N(alpha)-acetyltransferase 10, NatA catalytic subunit	178					DNA packaging|internal protein amino acid acetylation|N-terminal protein amino acid acetylation	cytoplasm|nucleus	peptide alpha-N-acetyltransferase activity|protein binding			breast(1)|endometrium(3)|kidney(1)|lung(3)|ovary(1)|prostate(1)	10						TCCACCTTGTTCTCGATGGCA	0.627													69	78					0	0	1	0	0	C	153195616	T	C	153195616	3	2	214	1	0	0	0	0	1	0	0	0	10164	1783	62	3	179	3	NAA10	23	153195616	Missense_Mutation	SNP	T	TCGA-FG-A60J-01A-11D-A289-08	1858686	153195616	2074944	45	25621											
TAZ	6901	broad.mit.edu	37	X	153640435	153640435	+	Missense_Mutation	SNP	A	A	T			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chrX:153640435A>T	ENST00000299328.5	+	2	411	c.122A>T	c.(121-123)cAc>cTc	p.H41L	TAZ_ENST00000369790.4_Missense_Mutation_p.H41L|TAZ_ENST00000350743.4_Missense_Mutation_p.H41L|TAZ_ENST00000351413.4_Missense_Mutation_p.H41L|TAZ_ENST00000475699.1_Missense_Mutation_p.H41L|TAZ_ENST00000369776.4_Intron	NM_000116.3	NP_000107.1	Q16635	TAZ_HUMAN	tafazzin	41					cardiac muscle contraction|cardiac muscle tissue development|cardiolipin biosynthetic process|cristae formation|hemopoiesis|mitochondrial ATP synthesis coupled electron transport|mitochondrial respiratory chain complex I assembly|skeletal muscle tissue development	integral to membrane|mitochondrion	1-acylglycerophosphocholine O-acyltransferase activity			lung(1)	1	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TACATGAACCACCTGACCGTG	0.677											OREG0003602	type=REGULATORY REGION|Gene=DNASE1L1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	17	13					0	0	1	0	0	T	153640435	A	T	153640435	3	4	214	1	0	0	0	0	1	0	0	0	15653	159	6	5	128	5	TAZ	23	153640435	Missense_Mutation	SNP	A	TCGA-FG-A60J-01A-11D-A289-08	444819	153640435	1630125	46	25622											
PPOX	5498	broad.mit.edu	37	1	161139471	161139471	+	Missense_Mutation	SNP	C	C	G			TCGA-FG-A60K-01A-11D-A29Q-08	TCGA-FG-A60K-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb946068-0a96-4764-a502-6a91cffa9990	d1f8c42a-8fdb-4ccf-a5c4-34abbfc28991	g.chr1:161139471C>G	ENST00000367999.4	+	8	1095	c.829C>G	c.(829-831)Ctg>Gtg	p.L277V	PPOX_ENST00000535223.1_Intron|PPOX_ENST00000495483.1_3'UTR|PPOX_ENST00000544598.1_Intron|PPOX_ENST00000432542.2_Intron|PPOX_ENST00000352210.5_Missense_Mutation_p.L277V	NM_001122764.1	NP_001116236.1	P50336	PPOX_HUMAN	protoporphyrinogen oxidase	277					heme biosynthetic process	intrinsic to mitochondrial inner membrane|mitochondrial intermembrane space	flavin adenine dinucleotide binding|oxygen-dependent protoporphyrinogen oxidase activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(3)	15	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			GGACAGCAGTCTGGAGGCTGA	0.473													9	109					0	0	1	0	0	G	161139471	C	G	161139471	3	3	215	1	0	0	0	0	1	0	0	0	12397	912	32	4	855	4	PPOX	1	161139471	Missense_Mutation	SNP	C	TCGA-FG-A60K-01A-11D-A29Q-08		161139471	88111150	1	25623											
RC3H1	149041	broad.mit.edu	37	1	173930321	173930321	+	Missense_Mutation	SNP	T	T	A			TCGA-FG-A60K-01A-11D-A29Q-08	TCGA-FG-A60K-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb946068-0a96-4764-a502-6a91cffa9990	d1f8c42a-8fdb-4ccf-a5c4-34abbfc28991	g.chr1:173930321T>A	ENST00000367696.2	-	13	2615	c.2264A>T	c.(2263-2265)cAt>cTt	p.H755L	RC3H1_ENST00000367694.2_Missense_Mutation_p.H755L|RC3H1_ENST00000258349.4_Missense_Mutation_p.H755L			Q5TC82	RC3H1_HUMAN	ring finger and CCCH-type domains 1	755	Pro-rich.				cytoplasmic mRNA processing body assembly|negative regulation of activated T cell proliferation|negative regulation of B cell proliferation|negative regulation of germinal center formation|negative regulation of T-helper cell differentiation|nuclear-transcribed mRNA catabolic process|regulation of mRNA stability|regulation of T cell receptor signaling pathway	cytoplasmic mRNA processing body|stress granule	mRNA 3'-UTR binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	50						TCGTCGGCGATGTAGTTCATC	0.448													6	140					0	0	1	0	0	A	173930321	T	A	173930321	3	1	215	1	0	0	0	0	1	0	0	0	13218	1464	51	4	1169	4	RC3H1	1	173930321	Missense_Mutation	SNP	T	TCGA-FG-A60K-01A-11D-A29Q-08	12790850	173930321	75320300	2	25624											
PLB1	151056	broad.mit.edu	37	2	28772947	28772947	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-A60K-01A-11D-A29Q-08	TCGA-FG-A60K-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb946068-0a96-4764-a502-6a91cffa9990	d1f8c42a-8fdb-4ccf-a5c4-34abbfc28991	g.chr2:28772947T>C	ENST00000422425.2	+	16	1156	c.1112T>C	c.(1111-1113)cTt>cCt	p.L371P	PLB1_ENST00000327757.5_Missense_Mutation_p.L360P|PLB1_ENST00000329020.6_Missense_Mutation_p.L48P	NM_001170585.1	NP_001164056.1	Q6P1J6	PLB1_HUMAN	phospholipase B1	360	4 X 308-326 AA approximate repeats.				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					CAAGACAAGCTTGAGGTAAGG	0.453													9	15					0	0	1	0	0	C	28772947	T	C	28772947	3	2	215	1	0	0	0	0	1	0	0	0	12072	1609	56	3	1174	3	PLB1	2	28772947	Missense_Mutation	SNP	T	TCGA-FG-A60K-01A-11D-A29Q-08		28772947	214426426	3	25625											
GALM	130589	broad.mit.edu	37	2	38903112	38903112	+	Silent	SNP	C	C	T	rs36038004		TCGA-FG-A60K-01A-11D-A29Q-08	TCGA-FG-A60K-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb946068-0a96-4764-a502-6a91cffa9990	d1f8c42a-8fdb-4ccf-a5c4-34abbfc28991	g.chr2:38903112C>T	ENST00000272252.5	+	2	501	c.249C>T	c.(247-249)atC>atT	p.I83I	GALM_ENST00000410063.1_Intron	NM_138801.2	NP_620156.1	Q96C23	GALM_HUMAN	galactose mutarotase (aldose 1-epimerase)	83					hexose metabolic process	cytoplasm	aldose 1-epimerase activity|carbohydrate binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	14		all_hematologic(82;0.248)				CCAACCGAATCGCCAAAGGAA	0.473													5	105					0	0	1	0	0	T	38903112	C	T	38903112	2	4	215	1	0	0	0	0	0	0	0	1	6245	874	31	1		1	GALM	2	38903112	Silent	SNP	C	TCGA-FG-A60K-01A-11D-A29Q-08	10130165	38903112	204296261	4	25626											
R3HDM1	23518	broad.mit.edu	37	2	136467732	136467732	+	Missense_Mutation	SNP	C	C	G			TCGA-FG-A60K-01A-11D-A29Q-08	TCGA-FG-A60K-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb946068-0a96-4764-a502-6a91cffa9990	d1f8c42a-8fdb-4ccf-a5c4-34abbfc28991	g.chr2:136467732C>G	ENST00000264160.4	+	22	2932	c.2562C>G	c.(2560-2562)aaC>aaG	p.N854K	R3HDM1_ENST00000410054.1_Missense_Mutation_p.N799K|R3HDM1_ENST00000329971.3_Missense_Mutation_p.N725K|R3HDM1_ENST00000409478.1_Missense_Mutation_p.N726K|R3HDM1_ENST00000409606.1_Missense_Mutation_p.N855K	NM_001282798.1|NM_015361.2	NP_001269727.1|NP_056176.2	Q15032	R3HD1_HUMAN	R3H domain containing 1	854							nucleic acid binding			breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	38				BRCA - Breast invasive adenocarcinoma(221;0.127)		GGAAACAAAACAAATATTACT	0.453											OREG0014997	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	15	79					0	0	1	0	0	G	136467732	C	G	136467732	3	3	215	1	0	0	0	0	1	0	0	0	12939	477	17	5	2640	5	R3HDM1	2	136467732	Missense_Mutation	SNP	C	TCGA-FG-A60K-01A-11D-A29Q-08	97564620	136467732	106731641	5	25627											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-FG-A60K-01A-11D-A29Q-08	TCGA-FG-A60K-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb946068-0a96-4764-a502-6a91cffa9990	d1f8c42a-8fdb-4ccf-a5c4-34abbfc28991	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								29	33					0	0	1	0	0	T	209113112	C	T	209113112	3	4	215	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-FG-A60K-01A-11D-A29Q-08	72645380	209113112	34086261	6	25628											
ZBTB20	26137	broad.mit.edu	37	3	114070289	114070289	+	Silent	SNP	C	C	T	rs143932166	by1000genomes	TCGA-FG-A60K-01A-11D-A29Q-08	TCGA-FG-A60K-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb946068-0a96-4764-a502-6a91cffa9990	d1f8c42a-8fdb-4ccf-a5c4-34abbfc28991	g.chr3:114070289C>T	ENST00000462705.1	-	11	1238	c.417G>A	c.(415-417)ccG>ccA	p.P139P	ZBTB20_ENST00000471418.1_Silent_p.P139P|ZBTB20_ENST00000357258.3_Silent_p.P139P|ZBTB20_ENST00000464560.1_Silent_p.P139P|ZBTB20_ENST00000393785.2_Silent_p.P139P|ZBTB20_ENST00000474710.1_Silent_p.P212P|ZBTB20_ENST00000481632.1_Silent_p.P139P	NM_001164343.1	NP_001157815.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	212	BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		GAGTGCCCCGCGGCGTGTCCT	0.642													4	97					0	0	1	0	0	T	114070289	C	T	114070289	2	4	215	1	0	0	0	0	0	0	0	1	17588	755	27	1		1	ZBTB20	3	114070289	Silent	SNP	C	TCGA-FG-A60K-01A-11D-A29Q-08		114070289	83952141	7	25629											
PCDH7	5099	broad.mit.edu	37	4	31144302	31144302	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A60K-01A-11D-A29Q-08	TCGA-FG-A60K-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb946068-0a96-4764-a502-6a91cffa9990	d1f8c42a-8fdb-4ccf-a5c4-34abbfc28991	g.chr4:31144302G>A	ENST00000543491.1	+	3	3599	c.3599G>A	c.(3598-3600)cGc>cAc	p.R1200H				O60245	PCDH7_HUMAN	protocadherin 7	0					homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						ATGGGTGACCGCAACAGAAAC	0.502													4	148					0	0	1	0	0	A	31144302	G	A	31144302	3	1	215	1	0	0	0	0	1	0	0	0	11563	1087	38	1	3694	1	PCDH7	4	31144302	Missense_Mutation	SNP	G	TCGA-FG-A60K-01A-11D-A29Q-08		31144302	160009974	8	25630											
SOX4	6659	broad.mit.edu	37	6	21595267	21595269	+	In_Frame_Del	DEL	GGC	GGC	-			TCGA-FG-A60K-01A-11D-A29Q-08	TCGA-FG-A60K-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb946068-0a96-4764-a502-6a91cffa9990	d1f8c42a-8fdb-4ccf-a5c4-34abbfc28991	g.chr6:21595267_21595269delGGC	ENST00000244745.1	+	1	1296_1298	c.502_504delGGC	c.(502-504)ggcdel	p.G173del	SOX4_ENST00000543472.1_In_Frame_Del_p.G173del	NM_003107.2	NP_003098.1	Q06945	SOX4_HUMAN	SRY (sex determining region Y)-box 4	173					canonical Wnt receptor signaling pathway|cardiac ventricle formation|cellular response to glucose stimulus|DNA damage response, detection of DNA damage|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|glial cell development|glial cell proliferation|limb bud formation|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of protein export from nucleus|negative regulation of protein ubiquitination|neural tube formation|neuroepithelial cell differentiation|noradrenergic neuron differentiation|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|positive regulation of insulin secretion|positive regulation of N-terminal peptidyl-lysine acetylation|positive regulation of translation|pro-B cell differentiation|protein stabilization|skeletal system development|spinal cord motor neuron differentiation|sympathetic nervous system development|T cell differentiation	mitochondrion|nucleus	core promoter sequence-specific DNA binding|protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|RNA polymerase II transcription coactivator activity			kidney(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	6	Ovarian(93;0.163)		all cancers(50;0.0751)|Epithelial(50;0.155)			cggccatgggggcggcggcggcg	0.739													4	9	---	---	---	---						-	21595269	GGC	-	21595267	7	5	215	1	0	1	0	1	0	0	0	0	15007	1232	43	0	504	0	SOX4	6	21595267	In_Frame_Del	DEL	GGC	TCGA-FG-A60K-01A-11D-A29Q-08		21595267	149519800	9	25631											
GTF2H4	2968	broad.mit.edu	37	6	30879464	30879464	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-A60K-01A-11D-A29Q-08	TCGA-FG-A60K-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb946068-0a96-4764-a502-6a91cffa9990	d1f8c42a-8fdb-4ccf-a5c4-34abbfc28991	g.chr6:30879464T>C	ENST00000259895.4	+	9	968	c.745T>C	c.(745-747)Tac>Cac	p.Y249H	GTF2H4_ENST00000539324.1_Missense_Mutation_p.Y193H|GTF2H4_ENST00000376316.2_Missense_Mutation_p.Y249H	NM_001517.4	NP_001508.1	Q92759	TF2H4_HUMAN	general transcription factor IIH, polypeptide 4, 52kDa	249					mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of viral transcription|protein phosphorylation|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(3)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11						TCCTCAGGATTACTCTGTGGA	0.478								Nucleotide excision repair (NER)					37	51					0	0	1	0	0	C	30879464	T	C	30879464	3	2	215	1	0	0	0	0	1	0	0	0	6906	1754	61	3	775	3	GTF2H4	6	30879464	Missense_Mutation	SNP	T	TCGA-FG-A60K-01A-11D-A29Q-08	9284197	30879464	140235603	10	25632											
TNF	7124	broad.mit.edu	37	6	31545282	31545282	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A60K-01A-11D-A29Q-08	TCGA-FG-A60K-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb946068-0a96-4764-a502-6a91cffa9990	d1f8c42a-8fdb-4ccf-a5c4-34abbfc28991	g.chr6:31545282G>A	ENST00000449264.2	+	4	845	c.670G>A	c.(670-672)Ggg>Agg	p.G224R		NM_000594.3	NP_000585.2	P01375	TNFA_HUMAN	tumor necrosis factor	224					activation of caspase activity|activation of MAPK activity|activation of MAPKKK activity|anti-apoptosis|cellular response to nicotine|chronic inflammatory response to antigenic stimulus|embryonic digestive tract development|induction of apoptosis via death domain receptors|induction of necroptosis by extracellular signals|leukocyte tethering or rolling|necrotic cell death|negative regulation of branching involved in lung morphogenesis|negative regulation of cytokine secretion involved in immune response|negative regulation of fat cell differentiation|negative regulation of interleukin-6 production|negative regulation of lipid catabolic process|negative regulation of lipid storage|negative regulation of viral genome replication|positive regulation of calcidiol 1-monooxygenase activity|positive regulation of chemokine biosynthetic process|positive regulation of chemokine production|positive regulation of cytokine secretion|positive regulation of ERK1 and ERK2 cascade|positive regulation of fever generation|positive regulation of heterotypic cell-cell adhesion|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of membrane protein ectodomain proteolysis|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of NFAT protein import into nucleus|positive regulation of nitric oxide biosynthetic process|positive regulation of osteoclast differentiation|positive regulation of peptidyl-serine phosphorylation|positive regulation of podosome assembly|positive regulation of protein complex disassembly|positive regulation of smooth muscle cell proliferation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of vitamin D biosynthetic process|protein import into nucleus, translocation|receptor biosynthetic process|regulation of insulin secretion|response to glucocorticoid stimulus|response to salt stress|response to virus|sequestering of triglyceride|transformed cell apoptosis|tumor necrosis factor-mediated signaling pathway	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane raft|phagocytic cup|recycling endosome	cytokine activity|identical protein binding|protease binding|transcription regulatory region DNA binding|tumor necrosis factor receptor binding			large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|skin(3)	8		Ovarian(999;0.00556)			Adalimumab(DB00051)|Adenosine(DB00640)|Amrinone(DB01427)|Atorvastatin(DB01076)|Chloroquine(DB00608)|Clenbuterol(DB01407)|Etanercept(DB00005)|Glucosamine(DB01296)|Infliximab(DB00065)|Naltrexone(DB00704)|Pranlukast(DB01411)|Procaterol(DB01366)|Saquinavir(DB01232)|Simvastatin(DB00641)|Thalidomide(DB01041)	TGCCGAGTCTGGGCAGGTCTA	0.567									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of				24	37					0	0	1	0	0	A	31545282	G	A	31545282	3	1	215	1	0	0	0	0	1	0	0	0	16331	1348	47	2	684	2	TNF	6	31545282	Missense_Mutation	SNP	G	TCGA-FG-A60K-01A-11D-A29Q-08	665818	31545282	139569785	11	25633											
RPS6KA2	6196	broad.mit.edu	37	6	167040506	167040506	+	Translation_Start_Site	SNP	A	A	T			TCGA-FG-A60K-01A-11D-A29Q-08	TCGA-FG-A60K-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb946068-0a96-4764-a502-6a91cffa9990	d1f8c42a-8fdb-4ccf-a5c4-34abbfc28991	g.chr6:167040506A>T	ENST00000265678.4	-	1	225	c.2T>A	c.(1-3)aTg>aAg	p.M1K	RPS6KA2_ENST00000510118.1_Intron|RPS6KA2_ENST00000503859.1_Intron|RPS6KA2_ENST00000366863.2_5'UTR	NM_021135.4	NP_066958.2	Q15349	KS6A2_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 2	1					axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05)		GCTCAGGTCCATCGCCCCGCG	0.716													4	8					0	0	1	0	0	T	167040506	A	T	167040506	1	4	215	1	0	0	0	0	0	0	0	0	13703	217	8	4		4	RPS6KA2	6	167040506	Translation_Start_Site	SNP	A	TCGA-FG-A60K-01A-11D-A29Q-08	135495224	167040506	4074561	12	25634											
KIF25	3834	broad.mit.edu	37	6	168430294	168430294	+	Missense_Mutation	SNP	G	G	A	rs150821798	byFrequency	TCGA-FG-A60K-01A-11D-A29Q-08	TCGA-FG-A60K-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb946068-0a96-4764-a502-6a91cffa9990	d1f8c42a-8fdb-4ccf-a5c4-34abbfc28991	g.chr6:168430294G>A	ENST00000443060.2	+	3	420	c.29G>A	c.(28-30)cGt>cAt	p.R10H	KIF25_ENST00000351261.3_Missense_Mutation_p.R10H|KIF25_ENST00000354419.2_Missense_Mutation_p.R10H			Q9UIL4	KIF25_HUMAN	kinesin family member 25	10	Kinesin-motor.				microtubule-based movement|mitotic sister chromatid segregation	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity			NS(2)|breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		Breast(66;1.07e-05)|Ovarian(120;0.0728)		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)		CAGCTTCAGCGTGAGAAGCAG	0.632													32	90					0	0	1	0	0	A	168430294	G	A	168430294	3	1	215	1	0	0	0	0	1	0	0	0	8335	1145	40	1	31	1	KIF25	6	168430294	Missense_Mutation	SNP	G	TCGA-FG-A60K-01A-11D-A29Q-08	1389788	168430294	2684773	13	25635											
SCARA5	286133	broad.mit.edu	37	8	27779274	27779274	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A60K-01A-11D-A29Q-08	TCGA-FG-A60K-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb946068-0a96-4764-a502-6a91cffa9990	d1f8c42a-8fdb-4ccf-a5c4-34abbfc28991	g.chr8:27779274G>A	ENST00000354914.3	-	4	1215	c.730C>T	c.(730-732)Cgg>Tgg	p.R244W	SCARA5_ENST00000524352.1_Missense_Mutation_p.R244W|SCARA5_ENST00000518030.1_Missense_Mutation_p.R201W|SCARA5_ENST00000380385.2_Intron|SCARA5_ENST00000301906.4_Missense_Mutation_p.R201W	NM_173833.5	NP_776194.2	Q6ZMJ2	SCAR5_HUMAN	scavenger receptor class A, member 5 (putative)	244					cellular iron ion homeostasis|endocytosis|iron ion transmembrane transport|protein homotrimerization	integral to plasma membrane	ferritin receptor activity|scavenger receptor activity			central_nervous_system(1)|large_intestine(6)|lung(5)|prostate(3)|skin(3)	18		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)|Colorectal(74;0.228)		TCCTGCAGCCGCGTGCGGTGG	0.721													3	12					0	0	1	0	0	A	27779274	G	A	27779274	3	1	215	1	0	0	0	0	1	0	0	0	13933	1086	38	1	781	1	SCARA5	8	27779274	Missense_Mutation	SNP	G	TCGA-FG-A60K-01A-11D-A29Q-08		27779274	118584748	14	25636											
CNTNAP3	79937	broad.mit.edu	37	9	39086827	39086827	+	Nonsense_Mutation	SNP	G	G	C			TCGA-FG-A60K-01A-11D-A29Q-08	TCGA-FG-A60K-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb946068-0a96-4764-a502-6a91cffa9990	d1f8c42a-8fdb-4ccf-a5c4-34abbfc28991	g.chr9:39086827G>C	ENST00000297668.6	-	20	3313	c.3240C>G	c.(3238-3240)taC>taG	p.Y1080*	CNTNAP3_ENST00000377656.2_Nonsense_Mutation_p.Y999*|CNTNAP3_ENST00000358144.2_Nonsense_Mutation_p.Y992*	NM_033655.3	NP_387504.2	Q9BZ76	CNTP3_HUMAN	contactin associated protein-like 3	1080	Laminin G-like 4.				cell adhesion|cell recognition|signal transduction	extracellular region|integral to membrane|plasma membrane	receptor binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		TATCTAGCTTGTACCTAATCT	0.313													4	35					0	0	1	0	0	C	39086827	G	C	39086827	4	2	215	1	0	0	0	0	0	1	0	0	3671	1372	48	5	646	5	CNTNAP3	9	39086827	Nonsense_Mutation	SNP	G	TCGA-FG-A60K-01A-11D-A29Q-08		39086827	102126604	15	25637											
OR2D2	120776	broad.mit.edu	37	11	6912815	6912815	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-A60K-01A-11D-A29Q-08	TCGA-FG-A60K-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb946068-0a96-4764-a502-6a91cffa9990	d1f8c42a-8fdb-4ccf-a5c4-34abbfc28991	g.chr11:6912815T>C	ENST00000299459.2	-	1	1015	c.917A>G	c.(916-918)aAt>aGt	p.N306S		NM_003700.1	NP_003691.1	Q9H210	OR2D2_HUMAN	olfactory receptor, family 2, subfamily D, member 2	306					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	18		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		TCATGGGAAATTCCTTGTGGC	0.458													11	42					0	0	1	0	0	C	6912815	T	C	6912815	3	2	215	1	0	0	0	0	1	0	0	0	11042	1493	52	3	12	3	OR2D2	11	6912815	Missense_Mutation	SNP	T	TCGA-FG-A60K-01A-11D-A29Q-08		6912815	128093701	16	25638											
PLEKHG6	55200	broad.mit.edu	37	12	6424735	6424735	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A60K-01A-11D-A29Q-08	TCGA-FG-A60K-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb946068-0a96-4764-a502-6a91cffa9990	d1f8c42a-8fdb-4ccf-a5c4-34abbfc28991	g.chr12:6424735C>T	ENST00000449001.2	+	4	873	c.379C>T	c.(379-381)Ctc>Ttc	p.L127F	PLEKHG6_ENST00000011684.7_Missense_Mutation_p.L159F|PLEKHG6_ENST00000536531.1_Missense_Mutation_p.L159F|PLEKHG6_ENST00000396988.3_Missense_Mutation_p.L159F	NM_001144857.1	NP_001138329.1	Q3KR16	PKHG6_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 6	159					regulation of Rho protein signal transduction	cleavage furrow|cytoplasm|spindle pole	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(4)	23						GAGCCAGGAGCTCTGCCACCA	0.557													13	48					0	0	1	0	0	T	6424735	C	T	6424735	3	4	215	1	0	0	0	0	1	0	0	0	12122	797	28	2	535	2	PLEKHG6	12	6424735	Missense_Mutation	SNP	C	TCGA-FG-A60K-01A-11D-A29Q-08		6424735	127427160	17	25639											
CLEC4D	338339	broad.mit.edu	37	12	8673735	8673735	+	Missense_Mutation	SNP	T	T	G			TCGA-FG-A60K-01A-11D-A29Q-08	TCGA-FG-A60K-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb946068-0a96-4764-a502-6a91cffa9990	d1f8c42a-8fdb-4ccf-a5c4-34abbfc28991	g.chr12:8673735T>G	ENST00000299665.2	+	6	709	c.516T>G	c.(514-516)aaT>aaG	p.N172K		NM_080387.4	NP_525126.2	Q8WXI8	CLC4D_HUMAN	C-type lectin domain family 4, member D	172	C-type lectin.				innate immune response	integral to membrane	sugar binding			large_intestine(4)|lung(6)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Lung SC(5;0.184)					GGCATAAGAATGAACCCGACA	0.333													24	29					0	0	1	0	0	G	8673735	T	G	8673735	3	3	215	1	0	0	0	0	1	0	0	0	3537	1461	51	4	538	4	CLEC4D	12	8673735	Missense_Mutation	SNP	T	TCGA-FG-A60K-01A-11D-A29Q-08	2249000	8673735	125178160	18	25640											
ACACB	32	broad.mit.edu	37	12	109605743	109605743	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A60K-01A-11D-A29Q-08	TCGA-FG-A60K-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb946068-0a96-4764-a502-6a91cffa9990	d1f8c42a-8fdb-4ccf-a5c4-34abbfc28991	g.chr12:109605743C>T	ENST00000338432.7	+	4	948	c.829C>T	c.(829-831)Cgc>Tgc	p.R277C	ACACB_ENST00000377854.5_Missense_Mutation_p.R277C|ACACB_ENST00000377848.3_Missense_Mutation_p.R277C			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	277	Biotin carboxylation.				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	GAAGTGCATGCGCTCCATCCG	0.592													4	95					0	0	1	0	0	T	109605743	C	T	109605743	3	4	215	1	0	0	0	0	1	0	0	0	107	768	27	1	839	1	ACACB	12	109605743	Missense_Mutation	SNP	C	TCGA-FG-A60K-01A-11D-A29Q-08	100932008	109605743	24246152	19	25641											
CCNA1	8900	broad.mit.edu	37	13	37012005	37012006	+	Frame_Shift_Ins	INS	-	-	A			TCGA-FG-A60K-01A-11D-A29Q-08	TCGA-FG-A60K-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb946068-0a96-4764-a502-6a91cffa9990	d1f8c42a-8fdb-4ccf-a5c4-34abbfc28991	g.chr13:37012005_37012006insA	ENST00000418263.1	+	3	884_885	c.534_535insA	c.(535-537)aacfs	p.N179fs	CCNA1_ENST00000440264.1_Frame_Shift_Ins_p.N136fs|CCNA1_ENST00000255465.4_Frame_Shift_Ins_p.N180fs|CCNA1_ENST00000449823.1_Frame_Shift_Ins_p.N136fs	NM_001111045.1|NM_003914.3	NP_001104515.1|NP_003905.1	P78396	CCNA1_HUMAN	cyclin A1	180					cell division|G2/M transition of mitotic cell cycle|male meiosis I|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|spermatogenesis	cytosol|microtubule cytoskeleton|nucleoplasm	protein kinase binding			breast(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	35		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242)		TGCTGGATTTCAACACAGGTAA	0.47													42	84	---	---	---	---						A	37012006	-	A	37012005	7	5	215	1	0	1	1	0	0	0	0	0	2931	825	29	0	547	0	CCNA1	13	37012005	Frame_Shift_Ins	INS	-	TCGA-FG-A60K-01A-11D-A29Q-08		37012005	78157873	20	25642											
REC8	9985	broad.mit.edu	37	14	24648076	24648076	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A60K-01A-11D-A29Q-08	TCGA-FG-A60K-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb946068-0a96-4764-a502-6a91cffa9990	d1f8c42a-8fdb-4ccf-a5c4-34abbfc28991	g.chr14:24648076C>T	ENST00000311457.3	+	15	1753	c.1154C>T	c.(1153-1155)gCc>gTc	p.A385V	REC8_ENST00000559919.1_Missense_Mutation_p.A385V			O95072	REC8_HUMAN	REC8 meiotic recombination protein	386	Glu-rich.				mitotic metaphase/anaphase transition|mitotic prometaphase|reciprocal meiotic recombination|sister chromatid cohesion	nucleoplasm				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15				GBM - Glioblastoma multiforme(265;0.00839)		GAGGAGGCAGCCGCTGAGGAG	0.587													5	424					0	0	1	0	0	T	24648076	C	T	24648076	3	4	215	1	0	0	0	0	1	0	0	0	13251	739	26	2	1208	2	REC8	14	24648076	Missense_Mutation	SNP	C	TCGA-FG-A60K-01A-11D-A29Q-08		24648076	82701464	21	25643											
TTBK2	146057	broad.mit.edu	37	15	43102841	43102841	+	Missense_Mutation	SNP	A	A	C			TCGA-FG-A60K-01A-11D-A29Q-08	TCGA-FG-A60K-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb946068-0a96-4764-a502-6a91cffa9990	d1f8c42a-8fdb-4ccf-a5c4-34abbfc28991	g.chr15:43102841A>C	ENST00000267890.6	-	9	901	c.793T>G	c.(793-795)Ttg>Gtg	p.L265V	TTBK2_ENST00000567274.1_Missense_Mutation_p.L230V|TTBK2_ENST00000567840.1_Missense_Mutation_p.L265V	NM_173500.3	NP_775771.3	Q6IQ55	TTBK2_HUMAN	tau tubulin kinase 2	265	Protein kinase.				cell death		ATP binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;3.23e-07)		AAATAATCCAAAGAAGAGATA	0.398													26	44					0	0	1	0	0	C	43102841	A	C	43102841	3	2	215	1	0	0	0	0	1	0	0	0	16739	11	1	5	2969	5	TTBK2	15	43102841	Missense_Mutation	SNP	A	TCGA-FG-A60K-01A-11D-A29Q-08		43102841	59428551	22	25644											
GLIS2	84662	broad.mit.edu	37	16	4385109	4385109	+	Missense_Mutation	SNP	G	G	C			TCGA-FG-A60K-01A-11D-A29Q-08	TCGA-FG-A60K-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb946068-0a96-4764-a502-6a91cffa9990	d1f8c42a-8fdb-4ccf-a5c4-34abbfc28991	g.chr16:4385109G>C	ENST00000262366.3	+	6	1392	c.571G>C	c.(571-573)Gat>Cat	p.D191H	PAM16_ENST00000577031.1_Intron|GLIS2_ENST00000433375.1_Missense_Mutation_p.D191H			Q9BZE0	GLIS2_HUMAN	GLIS family zinc finger 2	191					cell differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development	cytoplasm|nuclear speck	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|transcription regulatory region DNA binding|zinc ion binding			breast(1)|cervix(4)|endometrium(1)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	11						CCATGTCAACGATTACCATGT	0.617													46	73					0	0	1	0	0	C	4385109	G	C	4385109	3	2	215	1	0	0	0	0	1	0	0	0	6488	1058	37	5	585	5	GLIS2	16	4385109	Missense_Mutation	SNP	G	TCGA-FG-A60K-01A-11D-A29Q-08		4385109	85969644	23	25645											
AATK	9625	broad.mit.edu	37	17	79094374	79094374	+	Frame_Shift_Del	DEL	G	G	-			TCGA-FG-A60K-01A-11D-A29Q-08	TCGA-FG-A60K-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb946068-0a96-4764-a502-6a91cffa9990	d1f8c42a-8fdb-4ccf-a5c4-34abbfc28991	g.chr17:79094374delG	ENST00000326724.4	-	11	3386	c.3362delC	c.(3361-3363)ccafs	p.P1121fs	AATK_ENST00000417379.1_Frame_Shift_Del_p.P1018fs	NM_001080395.2	NP_001073864.2	Q6ZMQ8	LMTK1_HUMAN	apoptosis-associated tyrosine kinase	1121	Pro-rich.					integral to membrane|mitochondrion|perinuclear region of cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			endometrium(2)|kidney(2)|lung(8)|ovary(3)|prostate(1)|stomach(4)|upper_aerodigestive_tract(1)	21	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			CAACAGTCCTGGGGGCCCCTG	0.692													2	4	---	---	---	---						-	79094374	G	-	79094374	7	5	215	1	0	1	0	1	0	0	0	0	26	1348	47	0	778	0	AATK	17	79094374	Frame_Shift_Del	DEL	G	TCGA-FG-A60K-01A-11D-A29Q-08		79094374	2100836	24	25646											
DOCK6	57572	broad.mit.edu	37	19	11348871	11348871	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A60K-01A-11D-A29Q-08	TCGA-FG-A60K-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb946068-0a96-4764-a502-6a91cffa9990	d1f8c42a-8fdb-4ccf-a5c4-34abbfc28991	g.chr19:11348871C>T	ENST00000294618.7	-	15	1764	c.1753G>A	c.(1753-1755)Gct>Act	p.A585T	C19orf80_ENST00000591200.1_Intron	NM_020812.3	NP_065863.2	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	585	DHR-1.				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						ACCGGCAGAGCCTGGCTGGGG	0.637													6	105					0	0	1	0	0	T	11348871	C	T	11348871	3	4	215	1	0	0	0	0	1	0	0	0	4718	739	26	2	4526	2	DOCK6	19	11348871	Missense_Mutation	SNP	C	TCGA-FG-A60K-01A-11D-A29Q-08		11348871	47780112	25	25647											
CIC	23152	broad.mit.edu	37	19	42798816	42798817	+	Frame_Shift_Ins	INS	-	-	GCGG			TCGA-FG-A60K-01A-11D-A29Q-08	TCGA-FG-A60K-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb946068-0a96-4764-a502-6a91cffa9990	d1f8c42a-8fdb-4ccf-a5c4-34abbfc28991	g.chr19:42798816_42798817insGCGG	ENST00000572681.2	+	20	7174_7175	c.7106_7107insGCGG	c.(7105-7110)ctgcggfs	p.-2370fs	CIC_ENST00000160740.3_Frame_Shift_Ins_p.-1462fs|CIC_ENST00000575354.2_Frame_Shift_Ins_p.-1464fs			Q96RK0	CIC_HUMAN	capicua transcriptional repressor						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				TACTCCTCCCTGCGGCGCACCC	0.629			"Mis, F, S"		oligodendroglioma								22	31	---	---	---	---						GCGG	42798817	-	GCGG	42798816	7	5	215	1	0	1	1	0	0	0	0	0	3446	1580	55	0	4462	0	CIC	19	42798816	Frame_Shift_Ins	INS	-	TCGA-FG-A60K-01A-11D-A29Q-08	31449945	42798816	16330167	26	25648											
FAM65C	140876	broad.mit.edu	37	20	49224997	49224997	+	Silent	SNP	C	C	T			TCGA-FG-A60K-01A-11D-A29Q-08	TCGA-FG-A60K-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb946068-0a96-4764-a502-6a91cffa9990	d1f8c42a-8fdb-4ccf-a5c4-34abbfc28991	g.chr20:49224997C>T	ENST00000327979.2	-	11	1284	c.873G>A	c.(871-873)acG>acA	p.T291T	FAM65C_ENST00000045083.2_Silent_p.T291T|FAM65C_ENST00000535356.1_Silent_p.T295T			Q96MK2	FA65C_HUMAN	family with sequence similarity 65, member C	291										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(1)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CCTGCGGCCGCGTCGTGAAGA	0.662													64	92					0	0	1	0	0	T	49224997	C	T	49224997	2	4	215	1	0	0	0	0	0	0	0	1	5636	755	27	1		1	FAM65C	20	49224997	Silent	SNP	C	TCGA-FG-A60K-01A-11D-A29Q-08		49224997	13800523	27	25649											
CRYAA	1409	broad.mit.edu	37	21	44592355	44592355	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A60K-01A-11D-A29Q-08	TCGA-FG-A60K-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb946068-0a96-4764-a502-6a91cffa9990	d1f8c42a-8fdb-4ccf-a5c4-34abbfc28991	g.chr21:44592355C>T	ENST00000291554.2	+	3	579	c.487C>T	c.(487-489)Cgg>Tgg	p.R163W	CRYAA_ENST00000398132.1_Missense_Mutation_p.R126W|CRYAA_ENST00000482775.1_3'UTR|CRYAA_ENST00000398133.1_Missense_Mutation_p.R143W	NM_000394.2	NP_000385.1	P02489	CRYAA_HUMAN	crystallin, alpha A	163					anti-apoptosis|negative regulation of intracellular transport|protein homooligomerization|response to heat|visual perception	cytoplasm|nucleus	structural constituent of eye lens|unfolded protein binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	11						CCCCGTGTCGCGGGAGGAGAA	0.677													34	37					0	0	1	0	0	T	44592355	C	T	44592355	3	4	215	1	0	0	0	0	1	0	0	0	3928	759	27	1	497	1	CRYAA	21	44592355	Missense_Mutation	SNP	C	TCGA-FG-A60K-01A-11D-A29Q-08		44592355	3537540	28	25650											
SLC35E4	339665	broad.mit.edu	37	22	31032741	31032741	+	Missense_Mutation	SNP	A	A	G			TCGA-FG-A60K-01A-11D-A29Q-08	TCGA-FG-A60K-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb946068-0a96-4764-a502-6a91cffa9990	d1f8c42a-8fdb-4ccf-a5c4-34abbfc28991	g.chr22:31032741A>G	ENST00000343605.4	+	1	1103	c.304A>G	c.(304-306)Atg>Gtg	p.M102V	SLC35E4_ENST00000300385.8_Missense_Mutation_p.M102V|SLC35E4_ENST00000406566.1_Missense_Mutation_p.M102V	NM_001001479.2	NP_001001479.1	Q6ICL7	S35E4_HUMAN	solute carrier family 35, member E4	102						integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|skin(1)	10						ACGGCGCCCCATGCCAGGCGG	0.687													10	27					0	0	1	0	0	G	31032741	A	G	31032741	3	3	215	1	0	0	0	0	1	0	0	0	14642	217	8	3	306	3	SLC35E4	22	31032741	Missense_Mutation	SNP	A	TCGA-FG-A60K-01A-11D-A29Q-08		31032741	20271825	29	25651											
MED12	9968	broad.mit.edu	37	X	70346299	70346299	+	Missense_Mutation	SNP	C	C	G			TCGA-FG-A60K-01A-11D-A29Q-08	TCGA-FG-A60K-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb946068-0a96-4764-a502-6a91cffa9990	d1f8c42a-8fdb-4ccf-a5c4-34abbfc28991	g.chrX:70346299C>G	ENST00000333646.6	+	19	2849	c.2650C>G	c.(2650-2652)Ctc>Gtc	p.L884V	MED12_ENST00000462984.1_3'UTR|MED12_ENST00000374080.3_Missense_Mutation_p.L884V|MED12_ENST00000374102.1_Missense_Mutation_p.L884V	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN	mediator complex subunit 12	884					androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					GGAATATTCACTCAGCATCAG	0.532			"M, S"		uterine leiomyoma		Opitz-Kaveggia Syndrome						42	127					0	0	1	0	0	G	70346299	C	G	70346299	3	3	215	1	0	0	0	0	1	0	0	0	9478	565	20	4	2724	4	MED12	23	70346299	Missense_Mutation	SNP	C	TCGA-FG-A60K-01A-11D-A29Q-08		70346299	84924261	30	25652											
ZMYM3	9203	broad.mit.edu	37	X	70463798	70463798	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A60K-01A-11D-A29Q-08	TCGA-FG-A60K-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb946068-0a96-4764-a502-6a91cffa9990	d1f8c42a-8fdb-4ccf-a5c4-34abbfc28991	g.chrX:70463798C>T	ENST00000373998.1	-	21	3974	c.3277G>A	c.(3277-3279)Gcc>Acc	p.A1093T	ZMYM3_ENST00000373988.1_Missense_Mutation_p.A1107T|ZMYM3_ENST00000373984.3_Missense_Mutation_p.A1100T|ZMYM3_ENST00000353904.2_Missense_Mutation_p.A1105T|ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000314425.5_Missense_Mutation_p.A1105T	NM_001171162.1	NP_001164633.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	1105					multicellular organismal development	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					GCTGAGCAGGCGAGAATATCC	0.458													32	36					0	0	1	0	0	T	70463798	C	T	70463798	3	4	215	1	0	0	0	0	1	0	0	0	17759	768	27	1	819	1	ZMYM3	23	70463798	Missense_Mutation	SNP	C	TCGA-FG-A60K-01A-11D-A29Q-08	117499	70463798	84806762	31	25653											
ARID1A	8289	broad.mit.edu	37	1	27059244	27059245	+	Frame_Shift_Ins	INS	-	-	ATGA			TCGA-FG-A60L-01A-12D-A31L-08	TCGA-FG-A60L-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b315c7cc-b490-4aa8-93fa-d1e4c22ee6d6	ef593f3e-ebd2-4723-83fa-f98618aa0194	g.chr1:27059244_27059245insATGA	ENST00000324856.7	+	4	2252_2253	c.1881_1882insATGA	c.(1882-1884)atgfs	p.-629fs	ARID1A_ENST00000457599.2_Frame_Shift_Ins_p.-629fs|ARID1A_ENST00000374152.2_Frame_Shift_Ins_p.-246fs	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)						androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	p.D627fs*2(1)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GGCAAGAAGATATGAACCTGAG	0.475			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"								7	122	---	---	---	---						ATGA	27059245	-	ATGA	27059244	7	5	216	1	0	1	1	0	0	0	0	0	910	1403	49	0	1895	0	ARID1A	1	27059244	Frame_Shift_Ins	INS	-	TCGA-FG-A60L-01A-12D-A31L-08		27059244	222191377	1	25654											
ECM1	1893	broad.mit.edu	37	1	150482462	150482462	+	Silent	SNP	C	C	A			TCGA-FG-A60L-01A-12D-A31L-08	TCGA-FG-A60L-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b315c7cc-b490-4aa8-93fa-d1e4c22ee6d6	ef593f3e-ebd2-4723-83fa-f98618aa0194	g.chr1:150482462C>A	ENST00000369047.4	+	4	413	c.288C>A	c.(286-288)ctC>ctA	p.L96L	ECM1_ENST00000346569.6_Silent_p.L96L|ECM1_ENST00000369049.4_Silent_p.L123L|ECM1_ENST00000470432.1_3'UTR	NM_004425.3	NP_004416.2	Q16610	ECM1_HUMAN	extracellular matrix protein 1	96					angiogenesis|biomineral tissue development|negative regulation of bone mineralization|negative regulation of peptidase activity|ossification|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of I-kappaB kinase/NF-kappaB cascade	proteinaceous extracellular matrix	laminin binding|protease binding|protein C-terminus binding|signal transducer activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|urinary_tract(1)	22	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.29e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			CTGCCCAACTCCCTGCTGAAA	0.592													28	87					1.16021e-09	1.18783e-09	1	1	0	A	150482462	C	A	150482462	2	1	216	1	0	0	0	0	0	0	0	1	4923	842	30	5		5	ECM1	1	150482462	Silent	SNP	C	TCGA-FG-A60L-01A-12D-A31L-08	123423218	150482462	98768159	2	25655											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-FG-A60L-01A-12D-A31L-08	TCGA-FG-A60L-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b315c7cc-b490-4aa8-93fa-d1e4c22ee6d6	ef593f3e-ebd2-4723-83fa-f98618aa0194	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								23	42					0	0	1	0	0	T	209113112	C	T	209113112	3	4	216	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-FG-A60L-01A-12D-A31L-08		209113112	34086261	3	25656											
FGD5	152273	broad.mit.edu	37	3	14965518	14965518	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A60L-01A-12D-A31L-08	TCGA-FG-A60L-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b315c7cc-b490-4aa8-93fa-d1e4c22ee6d6	ef593f3e-ebd2-4723-83fa-f98618aa0194	g.chr3:14965518G>A	ENST00000285046.5	+	17	4051	c.3941G>A	c.(3940-3942)cGg>cAg	p.R1314Q	FGD5_ENST00000476851.1_3'UTR|FGD5_ENST00000543601.1_Missense_Mutation_p.R1073Q|FGD5-AS1_ENST00000430166.1_RNA	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	1314					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						GTTACAGAGCGGCCTGTGAGC	0.537													20	35					0	0	1	0	0	A	14965518	G	A	14965518	3	1	216	1	0	0	0	0	1	0	0	0	5869	1116	39	1	4007	1	FGD5	3	14965518	Missense_Mutation	SNP	G	TCGA-FG-A60L-01A-12D-A31L-08		14965518	183056912	4	25657											
FGFBP1	9982	broad.mit.edu	37	4	15938242	15938242	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A60L-01A-12D-A31L-08	TCGA-FG-A60L-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b315c7cc-b490-4aa8-93fa-d1e4c22ee6d6	ef593f3e-ebd2-4723-83fa-f98618aa0194	g.chr4:15938242C>T	ENST00000382333.1	-	3	308	c.14G>A	c.(13-15)aGc>aAc	p.S5N	FGFBP1_ENST00000259988.2_Missense_Mutation_p.S5N	NM_005130.4	NP_005121.1	Q14512	FGFP1_HUMAN	fibroblast growth factor binding protein 1	5					cell-cell signaling|negative regulation of cell proliferation|signal transduction	extracellular space|plasma membrane	heparin binding			NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(2)|prostate(2)|skin(1)	10						CAGGGTGAGGCTACAGATCTT	0.537													26	42					0	0	1	0	0	T	15938242	C	T	15938242	3	4	216	1	0	0	0	0	1	0	0	0	5893	797	28	2	694	2	FGFBP1	4	15938242	Missense_Mutation	SNP	C	TCGA-FG-A60L-01A-12D-A31L-08		15938242	175216034	5	25658											
HERC5	51191	broad.mit.edu	37	4	89407330	89407330	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-A60L-01A-12D-A31L-08	TCGA-FG-A60L-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b315c7cc-b490-4aa8-93fa-d1e4c22ee6d6	ef593f3e-ebd2-4723-83fa-f98618aa0194	g.chr4:89407330T>C	ENST00000264350.3	+	14	1955	c.1802T>C	c.(1801-1803)cTc>cCc	p.L601P	HERC5_ENST00000508159.1_Missense_Mutation_p.L239P	NM_016323.3	NP_057407.2	Q9UII4	HERC5_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 5	601					innate immune response|ISG15-protein conjugation|negative regulation of type I interferon production|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cyclin-dependent protein kinase activity|regulation of defense response to virus|response to virus	cytosol|perinuclear region of cytoplasm	ISG15 ligase activity|protein binding|ubiquitin-protein ligase activity			NS(2)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|liver(2)|lung(17)|ovary(4)|prostate(1)|skin(4)	53		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000209)		TTGCACCGTCTCAATTTTTTT	0.333													4	93					0	0	1	0	0	C	89407330	T	C	89407330	3	2	216	1	0	0	0	0	1	0	0	0	7102	1551	54	3	1856	3	HERC5	4	89407330	Missense_Mutation	SNP	T	TCGA-FG-A60L-01A-12D-A31L-08	73469088	89407330	101746946	6	25659											
PCDHB15	56121	broad.mit.edu	37	5	140626622	140626622	+	Silent	SNP	G	G	A			TCGA-FG-A60L-01A-12D-A31L-08	TCGA-FG-A60L-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b315c7cc-b490-4aa8-93fa-d1e4c22ee6d6	ef593f3e-ebd2-4723-83fa-f98618aa0194	g.chr5:140626622G>A	ENST00000231173.3	+	1	1476	c.1476G>A	c.(1474-1476)ccG>ccA	p.P492P		NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN		492	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGCTGCTGCCGCCCCGGGACC	0.667													59	157					0	0	1	0	0	A	140626622	G	A	140626622	2	1	216	1	0	0	0	0	0	0	0	1	11587	1074	38	1		1	PCDHB15	5	140626622	Silent	SNP	G	TCGA-FG-A60L-01A-12D-A31L-08		140626622	40288638	7	25660											
PCDHGA3	56112	broad.mit.edu	37	5	140725644	140725644	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A60L-01A-12D-A31L-08	TCGA-FG-A60L-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b315c7cc-b490-4aa8-93fa-d1e4c22ee6d6	ef593f3e-ebd2-4723-83fa-f98618aa0194	g.chr5:140725644G>A	ENST00000253812.6	+	1	2044	c.2044G>A	c.(2044-2046)Gcc>Acc	p.A682T	PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1														breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGAGCCCTCCGCCAAACCCAA	0.687													4	123					0	0	1	0	0	A	140725644	G	A	140725644	3	1	216	1	0	0	0	0	1	0	0	0	11602	1087	38	1	2046	1	PCDHGA3	5	140725644	Missense_Mutation	SNP	G	TCGA-FG-A60L-01A-12D-A31L-08	99022	140725644	40189616	8	25661											
FABP6	2172	broad.mit.edu	37	5	159656578	159656578	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A60L-01A-12D-A31L-08	TCGA-FG-A60L-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b315c7cc-b490-4aa8-93fa-d1e4c22ee6d6	ef593f3e-ebd2-4723-83fa-f98618aa0194	g.chr5:159656578G>A	ENST00000393980.4	+	4	307	c.161G>A	c.(160-162)gGc>gAc	p.G54D	FABP6_ENST00000393982.1_Missense_Mutation_p.G54D|FABP6_ENST00000402432.3_Missense_Mutation_p.G5D	NM_001130958.1	NP_001124430.1	P51161	FABP6_HUMAN	fatty acid binding protein 6, ileal	5					bile acid and bile salt transport|bile acid metabolic process|negative regulation of cell proliferation	cytosol	transporter activity	p.G54D(1)|p.G5D(1)		breast(1)|kidney(1)|large_intestine(1)|lung(2)	5	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GCTTTCACCGGCAAGTTCGAG	0.537													4	175					0	0	1	0	0	A	159656578	G	A	159656578	3	1	216	1	0	0	0	0	1	0	0	0	5392	1203	42	2	171	2	FABP6	5	159656578	Missense_Mutation	SNP	G	TCGA-FG-A60L-01A-12D-A31L-08	18930934	159656578	21258682	9	25662											
ABCC10	89845	broad.mit.edu	37	6	43403589	43403589	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A60L-01A-12D-A31L-08	TCGA-FG-A60L-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b315c7cc-b490-4aa8-93fa-d1e4c22ee6d6	ef593f3e-ebd2-4723-83fa-f98618aa0194	g.chr6:43403589G>A	ENST00000244533.3	+	3	1939	c.1580G>A	c.(1579-1581)cGg>cAg	p.R527Q	ABCC10_ENST00000372530.4_Missense_Mutation_p.R570Q	NM_033450.2	NP_258261.2	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	570	ABC transmembrane type-1 1.					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	p.R527Q(2)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			TCCTTGGACCGGATCCAGCTT	0.567													21	76					0	0	1	0	0	A	43403589	G	A	43403589	3	1	216	1	0	0	0	0	1	0	0	0	50	1116	39	1	1590	1	ABCC10	6	43403589	Missense_Mutation	SNP	G	TCGA-FG-A60L-01A-12D-A31L-08		43403589	127711478	10	25663											
THBS2	7058	broad.mit.edu	37	6	169648831	169648831	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A60L-01A-12D-A31L-08	TCGA-FG-A60L-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b315c7cc-b490-4aa8-93fa-d1e4c22ee6d6	ef593f3e-ebd2-4723-83fa-f98618aa0194	g.chr6:169648831C>T	ENST00000366787.3	-	4	539	c.290G>A	c.(289-291)aGg>aAg	p.R97K		NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	97	Heparin-binding (Potential).|TSP N-terminal.				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity			NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		CAGCGTGCCCCTGGACTTGCC	0.622													21	81					0	0	1	0	0	T	169648831	C	T	169648831	3	4	216	1	0	0	0	0	1	0	0	0	15914	681	24	2	3308	2	THBS2	6	169648831	Missense_Mutation	SNP	C	TCGA-FG-A60L-01A-12D-A31L-08	126245242	169648831	1466236	11	25664											
SHB	6461	broad.mit.edu	37	9	38016073	38016073	+	Missense_Mutation	SNP	C	C	G			TCGA-FG-A60L-01A-12D-A31L-08	TCGA-FG-A60L-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b315c7cc-b490-4aa8-93fa-d1e4c22ee6d6	ef593f3e-ebd2-4723-83fa-f98618aa0194	g.chr9:38016073C>G	ENST00000377707.3	-	2	1338	c.773G>C	c.(772-774)aGc>aCc	p.S258T	SHB_ENST00000377700.4_Missense_Mutation_p.S258T|RP11-613M10.9_ENST00000540557.1_Missense_Mutation_p.S258T	NM_003028.2	NP_003019.2	Q15464	SHB_HUMAN	Src homology 2 domain containing adaptor protein B	258	Mediates interaction with LAT, FAK1, JAK1 and JAK3.				angiogenesis|apoptosis|cell differentiation|signal transduction	cytoplasm|plasma membrane	SH3/SH2 adaptor activity			central_nervous_system(2)|endometrium(4)|lung(1)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)	11		all_epithelial(88;0.122)		GBM - Glioblastoma multiforme(29;3.27e-05)|Lung(182;0.0658)		TCCTGCTTTGCTCTTGAGATC	0.537													34	121					0	0	1	0	0	G	38016073	C	G	38016073	3	3	216	1	0	0	0	0	1	0	0	0	14323	797	28	4	776	4	SHB	9	38016073	Missense_Mutation	SNP	C	TCGA-FG-A60L-01A-12D-A31L-08		38016073	103197358	12	25665											
AP3M1	26985	broad.mit.edu	37	10	75893895	75893895	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A60L-01A-12D-A31L-08	TCGA-FG-A60L-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b315c7cc-b490-4aa8-93fa-d1e4c22ee6d6	ef593f3e-ebd2-4723-83fa-f98618aa0194	g.chr10:75893895G>A	ENST00000355264.4	-	4	784	c.473C>T	c.(472-474)cCc>cTc	p.P158L	AP3M1_ENST00000372745.1_Missense_Mutation_p.P158L	NM_012095.4	NP_036227.1	Q9Y2T2	AP3M1_HUMAN	adaptor-related protein complex 3, mu 1 subunit	158					protein targeting to lysosome|vesicle-mediated transport	clathrin adaptor complex|Golgi apparatus|lysosome	protein binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(1)|prostate(1)|skin(1)	13	Prostate(51;0.0112)					CTGCCCGGTGGGGAGTGTGTC	0.408													10	54					0	0	1	0	0	A	75893895	G	A	75893895	3	1	216	1	0	0	0	0	1	0	0	0	743	1232	43	2	807	2	AP3M1	10	75893895	Missense_Mutation	SNP	G	TCGA-FG-A60L-01A-12D-A31L-08		75893895	59640852	13	25666											
AMIGO2	347902	broad.mit.edu	37	12	47472572	47472572	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-A60L-01A-12D-A31L-08	TCGA-FG-A60L-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b315c7cc-b490-4aa8-93fa-d1e4c22ee6d6	ef593f3e-ebd2-4723-83fa-f98618aa0194	g.chr12:47472572T>C	ENST00000266581.4	-	2	680	c.214A>G	c.(214-216)Aga>Gga	p.R72G	AMIGO2_ENST00000429635.1_Missense_Mutation_p.R72G|AMIGO2_ENST00000321382.3_Missense_Mutation_p.R72G|AMIGO2_ENST00000550413.1_Missense_Mutation_p.R72G	NM_181847.4	NP_862830.1	Q86SJ2	AMGO2_HUMAN	adhesion molecule with Ig-like domain 2	72					heterophilic cell-cell adhesion|homophilic cell adhesion	integral to membrane|nucleus|plasma membrane				endometrium(2)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	Renal(347;0.138)|Lung SC(27;0.192)					AGGTCCAGTCTCTTAATCAGT	0.478													22	80					0	0	1	0	0	C	47472572	T	C	47472572	3	2	216	1	0	0	0	0	1	0	0	0	572	1559	54	3	1358	3	AMIGO2	12	47472572	Missense_Mutation	SNP	T	TCGA-FG-A60L-01A-12D-A31L-08		47472572	86379323	14	25667											
KRT71	112802	broad.mit.edu	37	12	52940220	52940220	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A60L-01A-12D-A31L-08	TCGA-FG-A60L-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b315c7cc-b490-4aa8-93fa-d1e4c22ee6d6	ef593f3e-ebd2-4723-83fa-f98618aa0194	g.chr12:52940220G>A	ENST00000267119.5	-	7	1244	c.1175C>T	c.(1174-1176)gCc>gTc	p.A392V		NM_033448.2	NP_258259.1	Q3SY84	K2C71_HUMAN	keratin 71	392	Coil 2.|Rod.						structural molecule activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.194)		GTCCAGCTTGGCCCGGGCATC	0.622													19	50					0	0	1	0	0	A	52940220	G	A	52940220	3	1	216	1	0	0	0	0	1	0	0	0	8527	1203	42	2	408	2	KRT71	12	52940220	Missense_Mutation	SNP	G	TCGA-FG-A60L-01A-12D-A31L-08	5467648	52940220	80911675	15	25668											
SERPINA6	866	broad.mit.edu	37	14	94780585	94780585	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-A60L-01A-12D-A31L-08	TCGA-FG-A60L-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b315c7cc-b490-4aa8-93fa-d1e4c22ee6d6	ef593f3e-ebd2-4723-83fa-f98618aa0194	g.chr14:94780585T>C	ENST00000341584.3	-	2	547	c.401A>G	c.(400-402)gAt>gGt	p.D134G		NM_001756.3	NP_001747	P08185	CBG_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6	134					regulation of proteolysis|transport	extracellular space	serine-type endopeptidase inhibitor activity|steroid binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	26		all_cancers(154;0.0482)|all_epithelial(191;0.166)		COAD - Colon adenocarcinoma(157;0.211)	Alclometasone(DB00240)|Beclomethasone(DB00394)|Ciclesonide(DB01410)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Medrysone(DB00253)|Mitotane(DB00648)|Paramethasone(DB01384)|Prednisolone(DB00860)|Rimexolone(DB00896)|Triamcinolone(DB00620)	CAGGCTGCCATCAAGAAACAA	0.502													11	61					0	0	1	0	0	C	94780585	T	C	94780585	3	2	216	1	0	0	0	0	1	0	0	0	14147	1435	50	3	832	3	SERPINA6	14	94780585	Missense_Mutation	SNP	T	TCGA-FG-A60L-01A-12D-A31L-08		94780585	12568955	16	25669											
SERPINA11	256394	broad.mit.edu	37	14	94914772	94914772	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A60L-01A-12D-A31L-08	TCGA-FG-A60L-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b315c7cc-b490-4aa8-93fa-d1e4c22ee6d6	ef593f3e-ebd2-4723-83fa-f98618aa0194	g.chr14:94914772C>T	ENST00000334708.3	-	2	404	c.340G>A	c.(340-342)Gac>Aac	p.D114N	RP11-349I1.2_ENST00000536735.1_RNA	NM_001080451.1	NP_001073920.1	Q86U17	SPA11_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 11	114					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(14)|skin(1)|upper_aerodigestive_tract(1)	24				COAD - Colon adenocarcinoma(157;0.211)		TGGTGGATGTCGGCTTCAGGG	0.592													4	175					0	0	1	0	0	T	94914772	C	T	94914772	3	4	216	1	0	0	0	0	1	0	0	0	14142	884	31	1	944	1	SERPINA11	14	94914772	Missense_Mutation	SNP	C	TCGA-FG-A60L-01A-12D-A31L-08	134187	94914772	12434768	17	25670											
KLHL25	64410	broad.mit.edu	37	15	86312002	86312002	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A60L-01A-12D-A31L-08	TCGA-FG-A60L-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b315c7cc-b490-4aa8-93fa-d1e4c22ee6d6	ef593f3e-ebd2-4723-83fa-f98618aa0194	g.chr15:86312002C>T	ENST00000337975.5	-	2	1314	c.1040G>A	c.(1039-1041)gGc>gAc	p.G347D	KLHL25_ENST00000536947.1_Missense_Mutation_p.G347D|KLHL25_ENST00000559131.1_Intron	NM_022480.3	NP_071925.2	Q9H0H3	ENC2_HUMAN	kelch-like family member 25	347						cytoplasm				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	25						GGAGCCCCTGCCCCCCGTCAC	0.637													3	37					0	0	1	0	0	T	86312002	C	T	86312002	3	4	216	1	0	0	0	0	1	0	0	0	8423	739	26	2	733	2	KLHL25	15	86312002	Missense_Mutation	SNP	C	TCGA-FG-A60L-01A-12D-A31L-08		86312002	16219390	18	25671											
MYH11	4629	broad.mit.edu	37	16	15813153	15813153	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A60L-01A-12D-A31L-08	TCGA-FG-A60L-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b315c7cc-b490-4aa8-93fa-d1e4c22ee6d6	ef593f3e-ebd2-4723-83fa-f98618aa0194	g.chr16:15813153C>T	ENST00000452625.2	-	37	5203	c.5116G>A	c.(5116-5118)Gct>Act	p.A1706T	NDE1_ENST00000342673.5_Intron|NDE1_ENST00000396355.1_Intron|MYH11_ENST00000576790.2_Missense_Mutation_p.A1699T|MYH11_ENST00000300036.5_Missense_Mutation_p.A1699T|NDE1_ENST00000396354.1_Intron|MYH11_ENST00000396324.3_Missense_Mutation_p.A1706T	NM_001040113.1	NP_001035202.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	1699					axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						GCCCTCTCAGCGGCGGCGAGG	0.602			T	CBFB	AML								3	27					0	0	1	0	0	T	15813153	C	T	15813153	3	4	216	1	0	0	0	0	1	0	0	0	10079	768	27	1	882	1	MYH11	16	15813153	Missense_Mutation	SNP	C	TCGA-FG-A60L-01A-12D-A31L-08		15813153	74541600	19	25672											
ZNF689	115509	broad.mit.edu	37	16	30616551	30616551	+	Missense_Mutation	SNP	G	G	C			TCGA-FG-A60L-01A-12D-A31L-08	TCGA-FG-A60L-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b315c7cc-b490-4aa8-93fa-d1e4c22ee6d6	ef593f3e-ebd2-4723-83fa-f98618aa0194	g.chr16:30616551G>C	ENST00000287461.3	-	3	874	c.537C>G	c.(535-537)tgC>tgG	p.C179W	ZNF689_ENST00000566673.1_5'UTR|RP11-146F11.5_ENST00000563540.1_RNA	NM_138447.1	NP_612456.1	Q96CS4	ZN689_HUMAN	zinc finger protein 689	179					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(1)	14			Colorectal(24;0.198)			CACAGTCTGGGCAAGGGTAAG	0.612													21	90					0	0	1	0	0	C	30616551	G	C	30616551	3	2	216	1	0	0	0	0	1	0	0	0	18150	1195	42	5	969	5	ZNF689	16	30616551	Missense_Mutation	SNP	G	TCGA-FG-A60L-01A-12D-A31L-08	14803398	30616551	59738202	20	25673											
ATP2A3	489	broad.mit.edu	37	17	3844416	3844416	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A60L-01A-12D-A31L-08	TCGA-FG-A60L-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b315c7cc-b490-4aa8-93fa-d1e4c22ee6d6	ef593f3e-ebd2-4723-83fa-f98618aa0194	g.chr17:3844416C>T	ENST00000309890.7	-	14	2099	c.1949G>A	c.(1948-1950)gGc>gAc	p.G650D	ATP2A3_ENST00000397043.3_Missense_Mutation_p.G650D|ATP2A3_ENST00000397041.3_Missense_Mutation_p.G650D|ATP2A3_ENST00000359983.3_Missense_Mutation_p.G650D|ATP2A3_ENST00000397035.3_Missense_Mutation_p.G650D|ATP2A3_ENST00000397039.1_5'UTR|ATP2A3_ENST00000352011.3_Missense_Mutation_p.G650D	NM_174953.2|NM_174954.2|NM_174955.2|NM_174956.2	NP_777613.1|NP_777614.1|NP_777615.1|NP_777616.1	Q93084	AT2A3_HUMAN	ATPase, Ca++ transporting, ubiquitous	650					ATP biosynthetic process|platelet activation	integral to membrane|nuclear membrane|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	36				LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)		GTAGGCCTTGCCCGCCACGTC	0.687													4	76					0	0	1	0	0	T	3844416	C	T	3844416	3	4	216	1	0	0	0	0	1	0	0	0	1137	739	26	2	1293	2	ATP2A3	17	3844416	Missense_Mutation	SNP	C	TCGA-FG-A60L-01A-12D-A31L-08		3844416	77350794	21	25674											
TP53	7157	broad.mit.edu	37	17	7576926	7576937	+	Splice_Site	DEL	GCTAGGAAAGAG	GCTAGGAAAGAG	-	rs34361146	byFrequency	TCGA-FG-A60L-01A-12D-A31L-08	TCGA-FG-A60L-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b315c7cc-b490-4aa8-93fa-d1e4c22ee6d6	ef593f3e-ebd2-4723-83fa-f98618aa0194	g.chr17:7576926_7576937delGCTAGGAAAGAG	ENST00000420246.2	-	9	1052	c.920delCTCTTTCCTAGC	c.(919-921)gct>gt	p.A307del	TP53_ENST00000269305.4_Splice_Site_p.A307del|TP53_ENST00000359597.4_Splice_Site_p.A307del|TP53_ENST00000445888.2_Splice_Site_p.A307del|TP53_ENST00000455263.2_Splice_Site_p.A307del|TP53_ENST00000413465.2_Intron	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	307	Interaction with CARM1.|Interaction with HIPK1 (By similarity).		A -> P (in a sporadic cancer; somatic mutation).|A -> S (in sporadic cancers; somatic mutation).|A -> T (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.?(47)|p.0?(8)|p.A307fs*34(1)|p.L308fs*31(1)|p.A307V(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)		GTTGGGCAGTGCTAGGAAAGAGGCAAGGAAAG	0.5		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)			44	55	---	---	---	---						-	7576937	GCTAGGAAAGAG	-	7576926	8	5	216	1	0	1	0	1	0	0	1	0	16442	1333	46	0	362	0	TP53	17	7576926	Splice_Site	DEL	GCTAGGAAAGAG	TCGA-FG-A60L-01A-12D-A31L-08	3732510	7576926	73618284	22	25675											
MYH2	4620	broad.mit.edu	37	17	10428846	10428846	+	Missense_Mutation	SNP	G	G	C			TCGA-FG-A60L-01A-12D-A31L-08	TCGA-FG-A60L-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b315c7cc-b490-4aa8-93fa-d1e4c22ee6d6	ef593f3e-ebd2-4723-83fa-f98618aa0194	g.chr17:10428846G>C	ENST00000245503.5	-	32	4843	c.4459C>G	c.(4459-4461)Ctg>Gtg	p.L1487V	RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|MYH2_ENST00000532183.2_Intron|MYH2_ENST00000397183.2_Missense_Mutation_p.L1487V|CTC-297N7.11_ENST00000587182.2_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1487					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						ATCTTGAACAGCTCAGTGCCA	0.458													17	61					0	0	1	0	0	C	10428846	G	C	10428846	3	2	216	1	0	0	0	0	1	0	0	0	10083	962	34	4	1402	4	MYH2	17	10428846	Missense_Mutation	SNP	G	TCGA-FG-A60L-01A-12D-A31L-08	2851920	10428846	70766364	23	25676											
DLGAP1	9229	broad.mit.edu	37	18	3499331	3499331	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A60L-01A-12D-A31L-08	TCGA-FG-A60L-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b315c7cc-b490-4aa8-93fa-d1e4c22ee6d6	ef593f3e-ebd2-4723-83fa-f98618aa0194	g.chr18:3499331C>T	ENST00000315677.3	-	13	3381	c.2786G>A	c.(2785-2787)cGg>cAg	p.R929Q	DLGAP1_ENST00000400149.3_Missense_Mutation_p.R619Q|DLGAP1_ENST00000534970.1_Missense_Mutation_p.R613Q|DLGAP1_ENST00000400150.3_Missense_Mutation_p.R645Q|DLGAP1_ENST00000400147.2_Missense_Mutation_p.R627Q|DLGAP1_ENST00000584874.1_Missense_Mutation_p.R929Q|DLGAP1_ENST00000400155.1_Missense_Mutation_p.R635Q|DLGAP1_ENST00000539435.1_Missense_Mutation_p.R637Q|DLGAP1_ENST00000581699.1_Missense_Mutation_p.R635Q	NM_004746.3	NP_004737.2	O14490	DLGP1_HUMAN	discs, large (Drosophila) homolog-associated protein 1	929					synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56		Colorectal(8;0.0257)				CGAGCGCTCCCGGATCAGCGG	0.677													3	3					0	0	1	0	0	T	3499331	C	T	3499331	3	4	216	1	0	0	0	0	1	0	0	0	4587	652	23	1	151	1	DLGAP1	18	3499331	Missense_Mutation	SNP	C	TCGA-FG-A60L-01A-12D-A31L-08		3499331	74577917	24	25677											
PTPRM	5797	broad.mit.edu	37	18	8379324	8379324	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A60L-01A-12D-A31L-08	TCGA-FG-A60L-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b315c7cc-b490-4aa8-93fa-d1e4c22ee6d6	ef593f3e-ebd2-4723-83fa-f98618aa0194	g.chr18:8379324G>A	ENST00000332175.8	+	26	4770	c.3733G>A	c.(3733-3735)Gct>Act	p.A1245T	PTPRM_ENST00000400053.4_Missense_Mutation_p.A1183T|PTPRM_ENST00000444013.1_Missense_Mutation_p.A1032T|PTPRM_ENST00000400060.4_Missense_Mutation_p.A1259T|PTPRM_ENST00000580170.1_Missense_Mutation_p.A1258T	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	1245	Tyrosine-protein phosphatase 2.				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				CTACATCAATGCTGCCCTCAT	0.607													26	41					0	0	1	0	0	A	8379324	G	A	8379324	3	1	216	1	0	0	0	0	1	0	0	0	12858	1319	46	2	3882	2	PTPRM	18	8379324	Missense_Mutation	SNP	G	TCGA-FG-A60L-01A-12D-A31L-08	4879993	8379324	69697924	25	25678											
LIPG	9388	broad.mit.edu	37	18	47095873	47095873	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A60L-01A-12D-A31L-08	TCGA-FG-A60L-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b315c7cc-b490-4aa8-93fa-d1e4c22ee6d6	ef593f3e-ebd2-4723-83fa-f98618aa0194	g.chr18:47095873G>A	ENST00000261292.4	+	4	804	c.526G>A	c.(526-528)Ggg>Agg	p.G176R	LIPG_ENST00000577628.1_Missense_Mutation_p.G212R|LIPG_ENST00000580036.1_Missense_Mutation_p.G176R|LIPG_ENST00000427224.2_Missense_Mutation_p.G176R	NM_006033.2	NP_006024.1	Q9Y5X9	LIPE_HUMAN	lipase, endothelial	176					cholesterol homeostasis|high-density lipoprotein particle remodeling|phospholipid catabolic process|phospholipid homeostasis|positive regulation of cholesterol transport|positive regulation of high-density lipoprotein particle clearance|reverse cholesterol transport	extracellular space	heparin binding|lipoprotein lipase activity|phospholipase A1 activity|protein binding|triglyceride lipase activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(2)	18						GCACGTGGCCGGGTATGCAGG	0.542													13	39					0	0	1	0	0	A	47095873	G	A	47095873	3	1	216	1	0	0	0	0	1	0	0	0	8864	1116	39	1	540	1	LIPG	18	47095873	Missense_Mutation	SNP	G	TCGA-FG-A60L-01A-12D-A31L-08	38716549	47095873	30981375	26	25679											
CENPB	1059	broad.mit.edu	37	20	3766523	3766524	+	Frame_Shift_Ins	INS	-	-	T			TCGA-FG-A60L-01A-12D-A31L-08	TCGA-FG-A60L-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b315c7cc-b490-4aa8-93fa-d1e4c22ee6d6	ef593f3e-ebd2-4723-83fa-f98618aa0194	g.chr20:3766523_3766524insT	ENST00000379751.4	-	1	813_814	c.607_608insA	c.(607-609)ttcfs	p.F203fs		NM_001810.5	NP_001801.1	P07199	CENPB_HUMAN	centromere protein B, 80kDa	203					regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	chromatin binding|satellite DNA binding			kidney(1)|large_intestine(2)|lung(4)|skin(1)	8						GTCGGGCAGGAAGTCGTACCAT	0.708													51	101	---	---	---	---						T	3766524	-	T	3766523	7	5	216	1	0	1	1	0	0	0	0	0	3249	246	9	0	1195	0	CENPB	20	3766523	Frame_Shift_Ins	INS	-	TCGA-FG-A60L-01A-12D-A31L-08		3766523	59258997	27	25680											
KIF16B	55614	broad.mit.edu	37	20	16359697	16359697	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FG-A60L-01A-12D-A31L-08	TCGA-FG-A60L-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b315c7cc-b490-4aa8-93fa-d1e4c22ee6d6	ef593f3e-ebd2-4723-83fa-f98618aa0194	g.chr20:16359697C>A	ENST00000354981.2	-	19	3107	c.2950G>T	c.(2950-2952)Gaa>Taa	p.E984*	KIF16B_ENST00000378003.2_Nonsense_Mutation_p.E210*|KIF16B_ENST00000355755.3_Nonsense_Mutation_p.E984*|KIF16B_ENST00000408042.1_Nonsense_Mutation_p.E984*	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	984	Glu-rich.				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity	p.E984K(2)|p.E984*(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						CTCACTTTTTCCTCCTGACGT	0.512													61	110					2.14255e-21	2.24706e-21	1	1	0	A	16359697	C	A	16359697	4	1	216	1	0	0	0	0	0	1	0	0	8320	864	30	5	1035	5	KIF16B	20	16359697	Nonsense_Mutation	SNP	C	TCGA-FG-A60L-01A-12D-A31L-08	12593174	16359697	46665823	28	25681											
CDH22	64405	broad.mit.edu	37	20	44803600	44803600	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FG-A60L-01A-12D-A31L-08	TCGA-FG-A60L-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b315c7cc-b490-4aa8-93fa-d1e4c22ee6d6	ef593f3e-ebd2-4723-83fa-f98618aa0194	g.chr20:44803600G>A	ENST00000372262.3	-	11	2432	c.2032C>T	c.(2032-2034)Cag>Tag	p.Q678*	CDH22_ENST00000537909.1_Nonsense_Mutation_p.Q678*	NM_021248.1	NP_067071.1	Q9UJ99	CAD22_HUMAN	cadherin 22, type 2	678					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44		Myeloproliferative disorder(115;0.0122)				TCGGTGTCCTGCTCGCCGCCG	0.677													13	33					0	0	1	0	0	A	44803600	G	A	44803600	4	1	216	1	0	0	0	0	0	1	0	0	3129	1328	46	2	458	2	CDH22	20	44803600	Nonsense_Mutation	SNP	G	TCGA-FG-A60L-01A-12D-A31L-08	28443903	44803600	18221920	29	25682											
ATP9A	10079	broad.mit.edu	37	20	50346470	50346470	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A60L-01A-12D-A31L-08	TCGA-FG-A60L-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b315c7cc-b490-4aa8-93fa-d1e4c22ee6d6	ef593f3e-ebd2-4723-83fa-f98618aa0194	g.chr20:50346470C>T	ENST00000338821.5	-	2	380	c.116G>A	c.(115-117)cGc>cAc	p.R39H	ATP9A_ENST00000477492.1_5'UTR|ATP9A_ENST00000311637.5_Missense_Mutation_p.R24H|ATP9A_ENST00000402822.1_Missense_Mutation_p.R39H	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	39					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						CCAGACAGTGCGGGGCCTGGC	0.587													4	145					0	0	1	0	0	T	50346470	C	T	50346470	3	4	216	1	0	0	0	0	1	0	0	0	1196	768	27	1	3135	1	ATP9A	20	50346470	Missense_Mutation	SNP	C	TCGA-FG-A60L-01A-12D-A31L-08	5542870	50346470	12679050	30	25683											
PRDM15	63977	broad.mit.edu	37	21	43274913	43274913	+	Silent	SNP	G	G	A			TCGA-FG-A60L-01A-12D-A31L-08	TCGA-FG-A60L-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b315c7cc-b490-4aa8-93fa-d1e4c22ee6d6	ef593f3e-ebd2-4723-83fa-f98618aa0194	g.chr21:43274913G>A	ENST00000422911.1	-	5	512	c.411C>T	c.(409-411)gaC>gaT	p.D137D	PRDM15_ENST00000538201.1_Silent_p.D100D|PRDM15_ENST00000398548.1_Silent_p.D137D|PRDM15_ENST00000447207.2_Silent_p.D100D|PRDM15_ENST00000269844.3_Silent_p.D466D	NM_001282934.1	NP_001269863.1	P57071	PRD15_HUMAN	PR domain containing 15	466					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						CGGGGTGCCCGTCCTTCTGGA	0.622													13	42					0	0	1	0	0	A	43274913	G	A	43274913	2	1	216	1	0	0	0	0	0	0	0	1	12508	1136	40	1		1	PRDM15	21	43274913	Silent	SNP	G	TCGA-FG-A60L-01A-12D-A31L-08		43274913	4854982	31	25684											
MAPK8IP2	23542	broad.mit.edu	37	22	51041583	51041583	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A60L-01A-12D-A31L-08	TCGA-FG-A60L-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b315c7cc-b490-4aa8-93fa-d1e4c22ee6d6	ef593f3e-ebd2-4723-83fa-f98618aa0194	g.chr22:51041583C>T	ENST00000008876.5	+	1	22	c.22C>T	c.(22-24)Cct>Tct	p.P8S	MAPK8IP2_ENST00000399908.2_5'UTR|MAPK8IP2_ENST00000329492.3_Intron|MAPK8IP2_ENST00000442429.2_Intron|MAPK8IP2_ENST00000399912.1_Intron|MAPK8IP2_ENST00000341339.4_Intron			Q13387	JIP2_HUMAN	mitogen-activated protein kinase 8 interacting protein 2	422					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)		TTTCCCTTCTCCTAGCACCTG	0.617													10	18					0	0	1	0	0	T	51041583	C	T	51041583	3	4	216	1	0	0	0	0	1	0	0	0	9335	855	30	2	203	2	MAPK8IP2	22	51041583	Missense_Mutation	SNP	C	TCGA-FG-A60L-01A-12D-A31L-08		51041583	262983	32	25685											
DKC1	1736	broad.mit.edu	37	X	153994501	153994501	+	Missense_Mutation	SNP	A	A	C			TCGA-FG-A60L-01A-12D-A31L-08	TCGA-FG-A60L-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b315c7cc-b490-4aa8-93fa-d1e4c22ee6d6	ef593f3e-ebd2-4723-83fa-f98618aa0194	g.chrX:153994501A>C	ENST00000369550.5	+	5	484	c.274A>C	c.(274-276)Att>Ctt	p.I92L		NM_001142463.1|NM_001363.3	NP_001135935.1|NP_001354.1	O60832	DKC1_HUMAN	dyskeratosis congenita 1, dyskerin	92					cell proliferation|pseudouridine synthesis|rRNA processing|telomere maintenance via telomerase	Cajal body|nucleolus|telomerase holoenzyme complex	protein binding|pseudouridine synthase activity|RNA binding|telomerase activity			breast(2)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)	15	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					GACAGGTTTCATTAATCTTGA	0.413									Congenital Dyskeratosis				4	107					0	0	1	0	0	C	153994501	A	C	153994501	3	2	216	1	0	0	0	0	1	0	0	0	4570	217	8	4	292	4	DKC1	23	153994501	Missense_Mutation	SNP	A	TCGA-FG-A60L-01A-12D-A31L-08		153994501	1276059	33	25686											
AADACL3	126767	broad.mit.edu	37	1	12785441	12785441	+	Silent	SNP	G	G	A			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr1:12785441G>A	ENST00000332530.3	+	3	547	c.321G>A	c.(319-321)tcG>tcA	p.S107S	AADACL3_ENST00000359318.5_Silent_p.S177S	NM_001103169.1	NP_001096639.1	Q5VUY0	ADCL3_HUMAN	arylacetamide deacetylase-like 3	177							hydrolase activity			breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	15	Ovarian(185;0.249)	Lung NSC(185;8.27e-05)|all_lung(284;9.47e-05)|Renal(390;0.000147)|Colorectal(325;0.000583)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		AAACCCCTTCGTTTCAACAGA	0.488													47	154					0	0	1	0	0	A	12785441	G	A	12785441	2	1	217	1	0	0	0	0	0	0	0	1	12	1132	40	1		1	AADACL3	1	12785441	Silent	SNP	G	TCGA-FG-A6IZ-01A-11D-A31L-08		12785441	236465180	1	25687											
ST3GAL3	6487	broad.mit.edu	37	1	44364853	44364853	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr1:44364853C>T	ENST00000262915.3	+	9	859	c.682C>T	c.(682-684)Cgc>Tgc	p.R228C	ST3GAL3_ENST00000533933.1_Missense_Mutation_p.R159C|ST3GAL3_ENST00000531993.1_Missense_Mutation_p.R143C|ST3GAL3_ENST00000461375.1_3'UTR|ST3GAL3_ENST00000351035.3_Missense_Mutation_p.R197C|ST3GAL3_ENST00000353126.3_Missense_Mutation_p.R159C|ST3GAL3_ENST00000545417.1_Intron|ST3GAL3_ENST00000361746.4_Missense_Mutation_p.R228C|ST3GAL3_ENST00000361400.4_Missense_Mutation_p.R143C|ST3GAL3_ENST00000531451.1_Intron|ST3GAL3_ENST00000332628.6_Missense_Mutation_p.R128C|ST3GAL3_ENST00000372367.1_Missense_Mutation_p.R158C|ST3GAL3_ENST00000372377.4_Intron|ST3GAL3_ENST00000372369.1_Missense_Mutation_p.R159C|ST3GAL3_ENST00000372368.2_Missense_Mutation_p.R213C|ST3GAL3_ENST00000372374.2_Missense_Mutation_p.R128C|ST3GAL3_ENST00000531816.1_Intron|ST3GAL3_ENST00000361812.4_Intron|ST3GAL3_ENST00000335430.6_Missense_Mutation_p.R143C|ST3GAL3_ENST00000528371.1_Missense_Mutation_p.R143C|ST3GAL3_ENST00000372362.2_Intron|ST3GAL3_ENST00000330208.2_Intron|ST3GAL3_ENST00000372372.2_Missense_Mutation_p.R197C|ST3GAL3_ENST00000372375.2_Missense_Mutation_p.R213C|ST3GAL3_ENST00000361392.4_Missense_Mutation_p.R159C|ST3GAL3_ENST00000372366.1_Missense_Mutation_p.R158C|ST3GAL3_ENST00000347631.2_Missense_Mutation_p.R174C|ST3GAL3_ENST00000372365.1_Missense_Mutation_p.R159C	NM_174963.3	NP_777623.2	Q11203	SIAT6_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 3	159					protein glycosylation	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	N-acetyllactosaminide alpha-2,3-sialyltransferase activity			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(3)|skin(1)	19	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0518)				CCGCTGCCGCCGCTGCATCAT	0.597													47	6					0	0	1	0	0	T	44364853	C	T	44364853	3	4	217	1	0	0	0	0	1	0	0	0	15272	652	23	1	712	1	ST3GAL3	1	44364853	Missense_Mutation	SNP	C	TCGA-FG-A6IZ-01A-11D-A31L-08	31579412	44364853	204885768	2	25688											
PAPPA2	60676	broad.mit.edu	37	1	176525560	176525560	+	Silent	SNP	G	G	A			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr1:176525560G>A	ENST00000367662.3	+	2	1266	c.102G>A	c.(100-102)ttG>ttA	p.L34L	PAPPA2_ENST00000367661.3_Silent_p.L34L	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	34					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						AGAAATCCTTGGTTGAGAGGG	0.527													41	111					0	0	1	0	0	A	176525560	G	A	176525560	2	1	217	1	0	0	0	0	0	0	0	1	11480	1339	47	2		2	PAPPA2	1	176525560	Silent	SNP	G	TCGA-FG-A6IZ-01A-11D-A31L-08	132160707	176525560	72725061	3	25689											
HADHA	3030	broad.mit.edu	37	2	26435460	26435460	+	Silent	SNP	G	G	A			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr2:26435460G>A	ENST00000380649.3	-	10	1083	c.954C>T	c.(952-954)gcC>gcT	p.A318A	HADHA_ENST00000457468.2_Silent_p.A231A	NM_000182.4	NP_000173.2	P40939	ECHA_HUMAN	hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit	318					fatty acid beta-oxidation	fatty acid beta-oxidation multienzyme complex|mitochondrial nucleoid|nucleolus	3-hydroxyacyl-CoA dehydrogenase activity|acetyl-CoA C-acetyltransferase activity|coenzyme binding|enoyl-CoA hydratase activity|long-chain-3-hydroxyacyl-CoA dehydrogenase activity|protein binding			autonomic_ganglia(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(4)|skin(1)	30	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				NADH(DB00157)	AGAGATAACCGGCATCACTCC	0.358													6	121					0	0	1	0	0	A	26435460	G	A	26435460	2	1	217	1	0	0	0	0	0	0	0	1	6984	1103	39	1		1	HADHA	2	26435460	Silent	SNP	G	TCGA-FG-A6IZ-01A-11D-A31L-08		26435460	216763913	4	25690											
XDH	7498	broad.mit.edu	37	2	31571808	31571808	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr2:31571808G>A	ENST00000379416.3	-	27	3056	c.3008C>T	c.(3007-3009)cCc>cTc	p.P1003L		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	1003					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	AAACTTGGTGGGAATTATGCA	0.383													4	58					0	0	1	0	0	A	31571808	G	A	31571808	3	1	217	1	0	0	0	0	1	0	0	0	17486	1232	43	2	1033	2	XDH	2	31571808	Missense_Mutation	SNP	G	TCGA-FG-A6IZ-01A-11D-A31L-08	5136348	31571808	211627565	5	25691											
AFTPH	54812	broad.mit.edu	37	2	64796313	64796313	+	Silent	SNP	G	G	A			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr2:64796313G>A	ENST00000422803.1	+	4	2489	c.2175G>A	c.(2173-2175)aaG>aaA	p.K725K	AFTPH_ENST00000238855.7_Silent_p.K725K|AFTPH_ENST00000409183.1_Silent_p.K356K|AFTPH_ENST00000409933.1_Silent_p.K725K|AFTPH_ENST00000238856.4_Silent_p.K725K|AFTPH_ENST00000487769.1_Intron			Q6ULP2	AFTIN_HUMAN	aftiphilin	725					protein transport	AP-1 adaptor complex|cytosol|nucleus	clathrin binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	35						ATAGCAACAAGAAGCTTTTGT	0.433													10	106					0	0	1	0	0	A	64796313	G	A	64796313	2	1	217	1	0	0	0	0	0	0	0	1	363	933	33	2		2	AFTPH	2	64796313	Silent	SNP	G	TCGA-FG-A6IZ-01A-11D-A31L-08	33224505	64796313	178403060	6	25692											
EGR4	1961	broad.mit.edu	37	2	73519641	73519641	+	Silent	SNP	A	A	G			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr2:73519641A>G	ENST00000436467.2	-	2	792	c.405T>C	c.(403-405)gaT>gaC	p.D135D	EGR4_ENST00000545030.1_Silent_p.D238D			B7ZKU3	B7ZKU3_HUMAN	early growth response 4	134						intracellular	nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						GCAGCAAGGCATCGGACCCCG	0.682													5	15					0	0	1	0	0	G	73519641	A	G	73519641	2	3	217	1	0	0	0	0	0	0	0	1	5000	214	8	3		3	EGR4	2	73519641	Silent	SNP	A	TCGA-FG-A6IZ-01A-11D-A31L-08	8723328	73519641	169679732	7	25693											
R3HDM1	23518	broad.mit.edu	37	2	136467655	136467655	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr2:136467655G>A	ENST00000264160.4	+	22	2855	c.2485G>A	c.(2485-2487)Ggg>Agg	p.G829R	R3HDM1_ENST00000329971.3_Missense_Mutation_p.G700R|R3HDM1_ENST00000409606.1_Missense_Mutation_p.G830R|R3HDM1_ENST00000410054.1_Missense_Mutation_p.G774R|R3HDM1_ENST00000409478.1_Missense_Mutation_p.G701R	NM_001282798.1|NM_015361.2	NP_001269727.1|NP_056176.2	Q15032	R3HD1_HUMAN	R3H domain containing 1	829							nucleic acid binding	p.G829R(1)		breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	38				BRCA - Breast invasive adenocarcinoma(221;0.127)		ACCTGGTGGGGGGATGGTGAT	0.453											OREG0014997	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	44	58					0	0	1	0	0	A	136467655	G	A	136467655	3	1	217	1	0	0	0	0	1	0	0	0	12939	1232	43	2	2563	2	R3HDM1	2	136467655	Missense_Mutation	SNP	G	TCGA-FG-A6IZ-01A-11D-A31L-08	62948014	136467655	106731718	8	25694											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	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	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								26	46					0	0	1	0	0	T	209113112	C	T	209113112	3	4	217	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-FG-A6IZ-01A-11D-A31L-08	72645457	209113112	34086261	9	25695											
IRS1	3667	broad.mit.edu	37	2	227663384	227663384	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr2:227663384C>T	ENST00000305123.5	-	1	1091	c.71G>A	c.(70-72)aGc>aAc	p.S24N		NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1		Mediates interaction with PHIP (By similarity).|PH.				fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		TTTGTGCATGCTCTTGGGTTT	0.657													4	99					0	0	1	0	0	T	227663384	C	T	227663384	3	4	217	1	0	0	0	0	1	0	0	0	7884	797	28	2	3661	2	IRS1	2	227663384	Missense_Mutation	SNP	C	TCGA-FG-A6IZ-01A-11D-A31L-08	18550272	227663384	15535989	10	25696											
COL6A3	1293	broad.mit.edu	37	2	238287314	238287314	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr2:238287314C>T	ENST00000295550.4	-	6	2914	c.2462G>A	c.(2461-2463)aGt>aAt	p.S821N	COL6A3_ENST00000392003.2_Missense_Mutation_p.S414N|COL6A3_ENST00000392004.3_Missense_Mutation_p.S615N|COL6A3_ENST00000353578.4_Missense_Mutation_p.S615N|COL6A3_ENST00000472056.1_Intron|COL6A3_ENST00000347401.3_Missense_Mutation_p.S620N|COL6A3_ENST00000409809.1_Missense_Mutation_p.S615N|COL6A3_ENST00000346358.4_Intron	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	821	Nonhelical region.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CACACCTCCACTAACATATGT	0.537													6	175					0	0	1	0	0	T	238287314	C	T	238287314	3	4	217	1	0	0	0	0	1	0	0	0	3724	565	20	2	7274	2	COL6A3	2	238287314	Missense_Mutation	SNP	C	TCGA-FG-A6IZ-01A-11D-A31L-08	10623930	238287314	4912059	11	25697											
CNTN6	27255	broad.mit.edu	37	3	1427358	1427358	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr3:1427358G>A	ENST00000446702.2	+	20	3208	c.2581G>A	c.(2581-2583)Gtc>Atc	p.V861I	CNTN6_ENST00000539053.1_Missense_Mutation_p.V789I|CNTN6_ENST00000350110.2_Missense_Mutation_p.V861I			Q9UQ52	CNTN6_HUMAN	contactin 6	861	Fibronectin type-III 3.				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		CAGTGGAAATGTCACAACCAA	0.418													21	171					0	0	1	0	0	A	1427358	G	A	1427358	3	1	217	1	0	0	0	0	1	0	0	0	3668	1377	48	2	2655	2	CNTN6	3	1427358	Missense_Mutation	SNP	G	TCGA-FG-A6IZ-01A-11D-A31L-08		1427358	196595072	12	25698											
TRIM71	131405	broad.mit.edu	37	3	32932723	32932723	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr3:32932723G>A	ENST00000383763.5	+	4	2090	c.2027G>A	c.(2026-2028)cGc>cAc	p.R676H		NM_001039111.1	NP_001034200.1	Q2Q1W2	LIN41_HUMAN	tripartite motif containing 71, E3 ubiquitin protein ligase						multicellular organismal development	cytoplasm	zinc ion binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GACAATCATCGCATCCAGATC	0.592													8	88					0	0	1	0	0	A	32932723	G	A	32932723	3	1	217	1	0	0	0	0	1	0	0	0	16605	1087	38	1	2041	1	TRIM71	3	32932723	Missense_Mutation	SNP	G	TCGA-FG-A6IZ-01A-11D-A31L-08	31505365	32932723	165089707	13	25699											
ARHGEF3	50650	broad.mit.edu	37	3	56771305	56771305	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr3:56771305G>A	ENST00000413728.2	-	8	1510	c.967C>T	c.(967-969)Ctt>Ttt	p.L323F	ARHGEF3_ENST00000296315.3_Missense_Mutation_p.L317F|ARHGEF3_ENST00000497267.1_Missense_Mutation_p.L288F|ARHGEF3_ENST00000496106.1_Missense_Mutation_p.L323F|ARHGEF3_ENST00000495373.1_Missense_Mutation_p.L317F|ARHGEF3_ENST00000338458.4_Missense_Mutation_p.L349F	NM_001128616.1	NP_001122088.1	Q9NR81	ARHG3_HUMAN	Rho guanine nucleotide exchange factor (GEF) 3	317	PH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|Rho protein signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	25				KIRC - Kidney renal clear cell carcinoma(284;0.0161)|Kidney(284;0.019)|OV - Ovarian serous cystadenocarcinoma(275;0.193)		AAGTAAAGAAGCCGCTCTTTA	0.428													14	71					0	0	1	0	0	A	56771305	G	A	56771305	3	1	217	1	0	0	0	0	1	0	0	0	901	971	34	2	643	2	ARHGEF3	3	56771305	Missense_Mutation	SNP	G	TCGA-FG-A6IZ-01A-11D-A31L-08	23838582	56771305	141251125	14	25700											
CNTN3	5067	broad.mit.edu	37	3	74347288	74347288	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr3:74347288G>A	ENST00000263665.6	-	17	2248	c.2221C>T	c.(2221-2223)Cgc>Tgc	p.R741C		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	741	Fibronectin type-III 2.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		CCAAGAGGGCGGAAAGCAACA	0.463													14	86					0	0	1	0	0	A	74347288	G	A	74347288	3	1	217	1	0	0	0	0	1	0	0	0	3665	1116	39	1	889	1	CNTN3	3	74347288	Missense_Mutation	SNP	G	TCGA-FG-A6IZ-01A-11D-A31L-08	17575983	74347288	123675142	15	25701											
PLCXD2	257068	broad.mit.edu	37	3	111427010	111427010	+	Frame_Shift_Del	DEL	T	T	-			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr3:111427010delT	ENST00000393934.3	+	2	971	c.401delT	c.(400-402)cttfs	p.L134fs	PLCXD2_ENST00000477665.1_Frame_Shift_Del_p.L134fs	NM_153268.3	NP_695000.1	Q0VAA5	PLCX2_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 2	134	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity			endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)	17						ATCCATGGGCTTTTTGGCATC	0.502													7	219	---	---	---	---						-	111427010	T	-	111427010	7	5	217	1	0	1	0	1	0	0	0	0	12090	1609	56	0	407	0	PLCXD2	3	111427010	Frame_Shift_Del	DEL	T	TCGA-FG-A6IZ-01A-11D-A31L-08	37079722	111427010	86595420	16	25702											
AADACL2	344752	broad.mit.edu	37	3	151475327	151475327	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr3:151475327G>A	ENST00000356517.3	+	5	1260	c.1151G>A	c.(1150-1152)cGt>cAt	p.R384H	RP11-454C18.2_ENST00000475855.1_RNA|RP11-454C18.2_ENST00000483843.2_RNA	NM_207365.3	NP_997248.2	Q6P093	ADCL2_HUMAN	arylacetamide deacetylase-like 2	384						extracellular region|integral to membrane	carboxylesterase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(13)|skin(2)	24			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			TTTTATTTACGTCTAGGTCTT	0.333													41	46					0	0	1	0	0	A	151475327	G	A	151475327	3	1	217	1	0	0	0	0	1	0	0	0	11	1145	40	1	1169	1	AADACL2	3	151475327	Missense_Mutation	SNP	G	TCGA-FG-A6IZ-01A-11D-A31L-08	40048317	151475327	46547103	17	25703											
GPR149	344758	broad.mit.edu	37	3	154056037	154056037	+	Silent	SNP	A	A	G			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr3:154056037A>G	ENST00000389740.2	-	4	1746	c.1647T>C	c.(1645-1647)atT>atC	p.I549I		NM_001038705.1	NP_001033794.1	Q86SP6	GP149_HUMAN	G protein-coupled receptor 149	549						integral to membrane|plasma membrane	G-protein coupled receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			CACACAAGGGAATGGCAAGGG	0.428													46	163					0	0	1	0	0	G	154056037	A	G	154056037	2	3	217	1	0	0	0	0	0	0	0	1	6694	242	9	3		3	GPR149	3	154056037	Silent	SNP	A	TCGA-FG-A6IZ-01A-11D-A31L-08	2580710	154056037	43966393	18	25704											
YEATS2	55689	broad.mit.edu	37	3	183495362	183495362	+	Silent	SNP	G	G	A			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr3:183495362G>A	ENST00000305135.5	+	19	2805	c.2610G>A	c.(2608-2610)caG>caA	p.Q870Q		NM_018023.4	NP_060493.3	Q9ULM3	YETS2_HUMAN	YEATS domain containing 2	870					histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex	TBP-class protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			CATCACCCCAGACTTCTGGAA	0.433													8	57					0	0	1	0	0	A	183495362	G	A	183495362	2	1	217	1	0	0	0	0	0	0	0	1	17532	933	33	2		2	YEATS2	3	183495362	Silent	SNP	G	TCGA-FG-A6IZ-01A-11D-A31L-08	29439325	183495362	14527068	19	25705											
TECRL	253017	broad.mit.edu	37	4	65274899	65274899	+	Silent	SNP	C	C	T			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr4:65274899C>T	ENST00000381210.3	-	1	281	c.171G>A	c.(169-171)acG>acA	p.T57T	TECRL_ENST00000507440.1_Silent_p.T57T	NM_001010874.4	NP_001010874.2	Q5HYJ1	TECRL_HUMAN	trans-2,3-enoyl-CoA reductase-like	57					lipid metabolic process	cytoplasm|integral to membrane	oxidoreductase activity, acting on the CH-CH group of donors			endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1)	47						CAAAGTGAGTCGTTTTTGAAT	0.328													20	19					0	0	1	0	0	T	65274899	C	T	65274899	2	4	217	1	0	0	0	0	0	0	0	1	15805	871	31	1		1	TECRL	4	65274899	Silent	SNP	C	TCGA-FG-A6IZ-01A-11D-A31L-08		65274899	125879377	20	25706											
POU4F3	5459	broad.mit.edu	37	5	145719841	145719841	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr5:145719841C>T	ENST00000230732.4	+	2	940	c.851C>T	c.(850-852)cCg>cTg	p.P284L	CTC-359M8.1_ENST00000515598.1_RNA	NM_002700.2	NP_002691.1	Q15319	PO4F3_HUMAN	POU class 4 homeobox 3	284					sensory perception of sound|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ATCGCGGCGCCGGAGAAGCGT	0.582													11	80					0	0	1	0	0	T	145719841	C	T	145719841	3	4	217	1	0	0	0	0	1	0	0	0	12326	652	23	1	857	1	POU4F3	5	145719841	Missense_Mutation	SNP	C	TCGA-FG-A6IZ-01A-11D-A31L-08		145719841	35195419	21	25707											
SOX4	6659	broad.mit.edu	37	6	21594934	21594934	+	Frame_Shift_Del	DEL	G	G	-			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr6:21594934delG	ENST00000244745.1	+	1	963	c.169delG	c.(169-171)gggfs	p.G57fs	SOX4_ENST00000543472.1_Frame_Shift_Del_p.G57fs	NM_003107.2	NP_003098.1	Q06945	SOX4_HUMAN	SRY (sex determining region Y)-box 4	57					canonical Wnt receptor signaling pathway|cardiac ventricle formation|cellular response to glucose stimulus|DNA damage response, detection of DNA damage|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|glial cell development|glial cell proliferation|limb bud formation|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of protein export from nucleus|negative regulation of protein ubiquitination|neural tube formation|neuroepithelial cell differentiation|noradrenergic neuron differentiation|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|positive regulation of insulin secretion|positive regulation of N-terminal peptidyl-lysine acetylation|positive regulation of translation|pro-B cell differentiation|protein stabilization|skeletal system development|spinal cord motor neuron differentiation|sympathetic nervous system development|T cell differentiation	mitochondrion|nucleus	core promoter sequence-specific DNA binding|protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|RNA polymerase II transcription coactivator activity			kidney(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	6	Ovarian(93;0.163)		all cancers(50;0.0751)|Epithelial(50;0.155)			GACCCCGAGTGGGCACATCAA	0.677													13	12	---	---	---	---						-	21594934	G	-	21594934	7	5	217	1	0	1	0	1	0	0	0	0	15007	1348	47	0	171	0	SOX4	6	21594934	Frame_Shift_Del	DEL	G	TCGA-FG-A6IZ-01A-11D-A31L-08		21594934	149520133	22	25708											
SOX4	6659	broad.mit.edu	37	6	21595117	21595117	+	Missense_Mutation	SNP	A	A	G			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr6:21595117A>G	ENST00000244745.1	+	1	1146	c.352A>G	c.(352-354)Aag>Gag	p.K118E	SOX4_ENST00000543472.1_Missense_Mutation_p.K118E	NM_003107.2	NP_003098.1	Q06945	SOX4_HUMAN	SRY (sex determining region Y)-box 4	118					canonical Wnt receptor signaling pathway|cardiac ventricle formation|cellular response to glucose stimulus|DNA damage response, detection of DNA damage|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|glial cell development|glial cell proliferation|limb bud formation|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of protein export from nucleus|negative regulation of protein ubiquitination|neural tube formation|neuroepithelial cell differentiation|noradrenergic neuron differentiation|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|positive regulation of insulin secretion|positive regulation of N-terminal peptidyl-lysine acetylation|positive regulation of translation|pro-B cell differentiation|protein stabilization|skeletal system development|spinal cord motor neuron differentiation|sympathetic nervous system development|T cell differentiation	mitochondrion|nucleus	core promoter sequence-specific DNA binding|protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|RNA polymerase II transcription coactivator activity			kidney(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	6	Ovarian(93;0.163)		all cancers(50;0.0751)|Epithelial(50;0.155)			GCTGCGCCTCAAGCACATGGC	0.622													9	25					0	0	1	0	0	G	21595117	A	G	21595117	3	3	217	1	0	0	0	0	1	0	0	0	15007	131	5	3	354	3	SOX4	6	21595117	Missense_Mutation	SNP	A	TCGA-FG-A6IZ-01A-11D-A31L-08	183	21595117	149519950	23	25709											
CDKN1A	1026	broad.mit.edu	37	6	36653546	36653546	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr6:36653546G>A	ENST00000405375.1	+	3	699	c.464G>A	c.(463-465)cGc>cAc	p.R155H	CDKN1A_ENST00000244741.5_Missense_Mutation_p.R155H|CDKN1A_ENST00000373711.2_Missense_Mutation_p.R155H|CDKN1A_ENST00000448526.2_Missense_Mutation_p.R189H	NM_001220778.1	NP_001207707.1	P38936	CDN1A_HUMAN	cyclin-dependent kinase inhibitor 1A (p21, Cip1)	155					cell cycle arrest|cellular response to extracellular stimulus|cellular response to ionizing radiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|induction of apoptosis by intracellular signals|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of fibroblast proliferation|positive regulation of reactive oxygen species metabolic process|Ras protein signal transduction|S phase of mitotic cell cycle|stress-induced premature senescence	cyclin-dependent protein kinase holoenzyme complex|cytosol|nucleoplasm|PCNA-p21 complex	cyclin-dependent protein kinase activating kinase activity|cyclin-dependent protein kinase inhibitor activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|urinary_tract(5)	15						CACTCCAAACGCCGGCTGATC	0.597													43	317					0	0	1	0	0	A	36653546	G	A	36653546	3	1	217	1	0	0	0	0	1	0	0	0	3180	1087	38	1	470	1	CDKN1A	6	36653546	Missense_Mutation	SNP	G	TCGA-FG-A6IZ-01A-11D-A31L-08	15058429	36653546	134461521	24	25710											
DNAH8	1769	broad.mit.edu	37	6	38773314	38773314	+	Missense_Mutation	SNP	A	A	G			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr6:38773314A>G	ENST00000359357.3	+	21	2695	c.2441A>G	c.(2440-2442)tAt>tGt	p.Y814C	DNAH8_ENST00000449981.2_Missense_Mutation_p.Y1031C|DNAH8_ENST00000441566.1_Missense_Mutation_p.Y814C					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						AACAATGACTATGAAGCTAAT	0.303													4	75					0	0	1	0	0	G	38773314	A	G	38773314	3	3	217	1	0	0	0	0	1	0	0	0	4634	449	16	3	2515	3	DNAH8	6	38773314	Missense_Mutation	SNP	A	TCGA-FG-A6IZ-01A-11D-A31L-08	2119768	38773314	132341753	25	25711											
COL9A1	1297	broad.mit.edu	37	6	70993483	70993483	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr6:70993483C>T	ENST00000357250.6	-	6	895	c.737G>A	c.(736-738)cGg>cAg	p.R246Q	COL9A1_ENST00000370496.3_Missense_Mutation_p.R246Q	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1	246	Nonhelical region (NC4).				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding	p.R246Q(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						TCTCCTGGGCCGCAGGGGGTC	0.517													4	16					0	0	1	0	0	T	70993483	C	T	70993483	3	4	217	1	0	0	0	0	1	0	0	0	3730	652	23	1	2236	1	COL9A1	6	70993483	Missense_Mutation	SNP	C	TCGA-FG-A6IZ-01A-11D-A31L-08	32220169	70993483	100121584	26	25712											
COL12A1	1303	broad.mit.edu	37	6	75893744	75893744	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr6:75893744T>C	ENST00000322507.8	-	9	1423	c.1114A>G	c.(1114-1116)Act>Gct	p.T372A	COL12A1_ENST00000483888.2_Missense_Mutation_p.T372A|COL12A1_ENST00000345356.6_Intron|COL12A1_ENST00000416123.2_Missense_Mutation_p.T372A	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	372	Fibronectin type-III 2.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						CTTCCTGCAGTCATTGGTGTG	0.478													11	139					0	0	1	0	0	C	75893744	T	C	75893744	3	2	217	1	0	0	0	0	1	0	0	0	3692	1667	58	3	8309	3	COL12A1	6	75893744	Missense_Mutation	SNP	T	TCGA-FG-A6IZ-01A-11D-A31L-08	4900261	75893744	95221323	27	25713											
TAGAP	117289	broad.mit.edu	37	6	159456923	159456923	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr6:159456923C>T	ENST00000367066.3	-	10	2463	c.2132G>A	c.(2131-2133)cGa>cAa	p.R711Q	RP1-111C20.4_ENST00000606470.1_RNA|RP1-111C20.4_ENST00000607391.1_RNA|RP1-111C20.4_ENST00000606466.1_RNA|TAGAP_ENST00000326965.6_Missense_Mutation_p.R533Q|RP1-111C20.4_ENST00000607796.1_RNA	NM_001278733.1|NM_054114.3	NP_001265662.1|NP_473455.2	Q8N103	TAGAP_HUMAN	T-cell activation RhoGTPase activating protein	711					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|guanyl-nucleotide exchange factor activity			NS(1)|autonomic_ganglia(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(2)|skin(1)	23		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-16)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		GCTACATCGTCGCACGAGACA	0.567													6	64					0	0	1	0	0	T	159456923	C	T	159456923	3	4	217	1	0	0	0	0	1	0	0	0	15594	884	31	1	67	1	TAGAP	6	159456923	Missense_Mutation	SNP	C	TCGA-FG-A6IZ-01A-11D-A31L-08	83563179	159456923	11658144	28	25714											
POU6F2	11281	broad.mit.edu	37	7	39125630	39125630	+	Splice_Site	SNP	C	C	T			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr7:39125630C>T	ENST00000518318.2	+	2	231	c.189C>T	c.(187-189)ttC>ttT	p.F63F	POU6F2_ENST00000559001.1_Splice_Site_p.F55F|POU6F2_ENST00000517348.1_3'UTR|POU6F2_ENST00000464276.2_Splice_Site_p.F55F|POU6F2_ENST00000403058.1_Splice_Site_p.F63F			P78424	PO6F2_HUMAN	POU class 6 homeobox 2	63					central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.F63F(1)		NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						GCAAGCTCTTCGGTAAGTCTG	0.507													5	42					0	0	1	0	0	T	39125630	C	T	39125630	5	4	217	1	0	0	0	0	0	0	1	0	12330	898	31	1	195	1	POU6F2	7	39125630	Splice_Site	SNP	C	TCGA-FG-A6IZ-01A-11D-A31L-08		39125630	120013033	29	25715											
KCTD7	154881	broad.mit.edu	37	7	66104145	66104145	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr7:66104145G>A	ENST00000275532.3	+	4	980	c.796G>A	c.(796-798)Gtg>Atg	p.V266M	KCTD7_ENST00000443322.1_Missense_Mutation_p.V266M	NM_001167961.2|NM_153033.4	NP_001161433.1|NP_694578.1	Q96MP8	KCTD7_HUMAN	potassium channel tetramerization domain containing 7	266						voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|urinary_tract(1)	16						GTGCATCGGGGTGTGTGACAA	0.597													4	56					0	0	1	0	0	A	66104145	G	A	66104145	3	1	217	1	0	0	0	0	1	0	0	0	8158	1261	44	2	810	2	KCTD7	7	66104145	Missense_Mutation	SNP	G	TCGA-FG-A6IZ-01A-11D-A31L-08	26978515	66104145	93034518	30	25716											
GNAT3	346562	broad.mit.edu	37	7	80108203	80108203	+	Missense_Mutation	SNP	A	A	G			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr7:80108203A>G	ENST00000398291.3	-	4	508	c.415T>C	c.(415-417)Tgc>Cgc	p.C139R	CD36_ENST00000435819.1_Intron	NM_001102386.1	NP_001095856.1	A8MTJ3	GNAT3_HUMAN	guanine nucleotide binding protein, alpha transducing 3	139					detection of chemical stimulus involved in sensory perception of bitter taste|G-protein signaling, coupled to cAMP nucleotide second messenger|rhodopsin mediated phototransduction|sensory perception of sweet taste|sensory perception of umami taste	cytoplasm|heterotrimeric G-protein complex|photoreceptor inner segment|photoreceptor outer segment	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			endometrium(1)|large_intestine(2)|lung(5)|ovary(1)	9						CTTTCAAAGCAGGCCTGAATT	0.413													65	107					0	0	1	0	0	G	80108203	A	G	80108203	3	3	217	1	0	0	0	0	1	0	0	0	6555	188	7	3	667	3	GNAT3	7	80108203	Missense_Mutation	SNP	A	TCGA-FG-A6IZ-01A-11D-A31L-08	14004058	80108203	79030460	31	25717											
UBE3C	9690	broad.mit.edu	37	7	157000121	157000121	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr7:157000121C>T	ENST00000348165.5	+	12	1808	c.1448C>T	c.(1447-1449)tCc>tTc	p.S483F		NM_014671.2	NP_055486.2	Q15386	UBE3C_HUMAN	ubiquitin protein ligase E3C	483					protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity			central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1)	63		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)		CAGGTGATATCCAGGGGTTCT	0.338													32	49					0	0	1	0	0	T	157000121	C	T	157000121	3	4	217	1	0	0	0	0	1	0	0	0	16942	855	30	2	1494	2	UBE3C	7	157000121	Missense_Mutation	SNP	C	TCGA-FG-A6IZ-01A-11D-A31L-08	76891918	157000121	2138542	32	25718											
IKBKB	3551	broad.mit.edu	37	8	42147675	42147675	+	Splice_Site	SNP	C	C	T			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr8:42147675C>T	ENST00000520810.1	+	4	388	c.202C>T	c.(202-204)Ctg>Ttg	p.L68L	IKBKB_ENST00000379708.3_Intron|IKBKB_ENST00000519735.1_Splice_Site_p.L68L|IKBKB_ENST00000522147.1_Intron|IKBKB_ENST00000520835.1_Splice_Site_p.L66L|IKBKB_ENST00000416505.2_Splice_Site_p.L9L	NM_001556.2	NP_001547.1	O14920	IKKB_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta	68	Protein kinase.				anti-apoptosis|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane|membrane raft	ATP binding|identical protein binding|IkappaB kinase activity			breast(4)|lung(1)|ovary(2)|skin(1)	8	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264)		Arsenic trioxide(DB01169)|Auranofin(DB00995)	TCCTCCTAGGCTGACCCACCC	0.627													19	18					0	0	1	0	0	T	42147675	C	T	42147675	5	4	217	1	0	0	0	0	0	0	1	0	7655	811	28	2	212	2	IKBKB	8	42147675	Splice_Site	SNP	C	TCGA-FG-A6IZ-01A-11D-A31L-08		42147675	104216347	33	25719											
PLEC	5339	broad.mit.edu	37	8	144991031	144991031	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr8:144991031C>T	ENST00000322810.4	-	32	13538	c.13369G>A	c.(13369-13371)Ggc>Agc	p.G4457S	PLEC_ENST00000354589.3_Missense_Mutation_p.G4320S|PLEC_ENST00000398774.2_Missense_Mutation_p.G4288S|PLEC_ENST00000436759.2_Missense_Mutation_p.G4347S|PLEC_ENST00000527096.1_Missense_Mutation_p.G4343S|PLEC_ENST00000345136.3_Missense_Mutation_p.G4320S|PLEC_ENST00000357649.2_Missense_Mutation_p.G4324S|PLEC_ENST00000354958.2_Missense_Mutation_p.G4298S|PLEC_ENST00000356346.3_Missense_Mutation_p.G4306S	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	4457	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						TCGATGATGCCCCCGGTGCAG	0.652													4	113					0	0	1	0	0	T	144991031	C	T	144991031	3	4	217	1	0	0	0	0	1	0	0	0	12100	623	22	2	689	2	PLEC	8	144991031	Missense_Mutation	SNP	C	TCGA-FG-A6IZ-01A-11D-A31L-08	102843356	144991031	1372991	34	25720											
FREM1	158326	broad.mit.edu	37	9	14842610	14842610	+	Missense_Mutation	SNP	A	A	G			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr9:14842610A>G	ENST00000380881.4	-	10	2260	c.1445T>C	c.(1444-1446)gTt>gCt	p.V482A	FREM1_ENST00000380880.3_Missense_Mutation_p.V481A|FREM1_ENST00000422223.2_Missense_Mutation_p.V481A			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	481					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		ATGATAGCGAACAACTCCAGC	0.532													130	11					0	0	1	0	0	G	14842610	A	G	14842610	3	3	217	1	0	0	0	0	1	0	0	0	6079	43	2	3	5263	3	FREM1	9	14842610	Missense_Mutation	SNP	A	TCGA-FG-A6IZ-01A-11D-A31L-08		14842610	126370821	35	25721											
AQP3	360	broad.mit.edu	37	9	33442900	33442900	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr9:33442900C>T	ENST00000297991.4	-	4	522	c.442G>A	c.(442-444)Gct>Act	p.A148T	AQP3_ENST00000493581.1_5'UTR	NM_004925.4	NP_004916.1	Q92482	AQP3_HUMAN	aquaporin 3 (Gill blood group)	148					excretion|odontogenesis|positive regulation of immune system process|regulation of keratinocyte differentiation|response to calcium ion|response to retinoic acid|response to vitamin D	basolateral plasma membrane|cell-cell junction|cytoplasm	glycerol channel activity|water channel activity			endometrium(2)|large_intestine(3)|lung(2)|ovary(1)	8			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.0899)		GGGTAGGTAGCAAAGATGCCG	0.562													6	209					0	0	1	0	0	T	33442900	C	T	33442900	3	4	217	1	0	0	0	0	1	0	0	0	824	710	25	2	448	2	AQP3	9	33442900	Missense_Mutation	SNP	C	TCGA-FG-A6IZ-01A-11D-A31L-08	18600290	33442900	107770531	36	25722											
ADAMTS13	11093	broad.mit.edu	37	9	136320669	136320669	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr9:136320669C>T	ENST00000371929.3	+	25	3956	c.3512C>T	c.(3511-3513)cCg>cTg	p.P1171L	ADAMTS13_ENST00000485925.1_Intron|ADAMTS13_ENST00000356589.2_Intron|ADAMTS13_ENST00000371916.1_3'UTR|ADAMTS13_ENST00000355699.2_Intron	NM_139025.3|NM_139027.3	NP_620594.1|NP_620596.2	Q76LX8	ATS13_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 13	1171					cell-matrix adhesion|glycoprotein metabolic process|integrin-mediated signaling pathway|peptide catabolic process|platelet activation|protein processing|proteolysis	cell surface|proteinaceous extracellular matrix	calcium ion binding|integrin binding|metalloendopeptidase activity|zinc ion binding			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(4)	36				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		CTCTTCTCCCCGGCTCCCCAG	0.687													17	127					0	0	1	0	0	T	136320669	C	T	136320669	3	4	217	1	0	0	0	0	1	0	0	0	257	652	23	1	3610	1	ADAMTS13	9	136320669	Missense_Mutation	SNP	C	TCGA-FG-A6IZ-01A-11D-A31L-08	102877769	136320669	4892762	37	25723											
MAN1B1	11253	broad.mit.edu	37	9	140003035	140003035	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr9:140003035C>T	ENST00000371589.4	+	13	2165	c.2092C>T	c.(2092-2094)Cct>Tct	p.P698S	MAN1B1_ENST00000474902.1_Missense_Mutation_p.P401S|MAN1B1_ENST00000540391.1_3'UTR	NM_016219.4	NP_057303.2	Q9UKM7	MA1B1_HUMAN	mannosidase, alpha, class 1B, member 1	698					oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|endoplasmic reticulum quality control compartment|integral to membrane	alpha-mannosidase activity|calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			autonomic_ganglia(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2)	14	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;3.08e-05)|Epithelial(140;0.000513)		TATCTGGACCCCTGCCTAGGG	0.597													6	207					0	0	1	0	0	T	140003035	C	T	140003035	3	4	217	1	0	0	0	0	1	0	0	0	9262	623	22	2	2142	2	MAN1B1	9	140003035	Missense_Mutation	SNP	C	TCGA-FG-A6IZ-01A-11D-A31L-08	3682366	140003035	1210396	38	25724											
ITGA8	8516	broad.mit.edu	37	10	15561315	15561315	+	Missense_Mutation	SNP	C	C	T	rs150922478		TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr10:15561315C>T	ENST00000378076.3	-	29	3432	c.3079G>A	c.(3079-3081)Gcc>Acc	p.A1027T		NM_003638.1	NP_003629	P53708	ITA8_HUMAN	integrin, alpha 8	1027					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						GTTAAAATGGCGAGAACCAAC	0.373													10	215					0	0	1	0	0	T	15561315	C	T	15561315	3	4	217	1	0	0	0	0	1	0	0	0	7926	768	27	1	120	1	ITGA8	10	15561315	Missense_Mutation	SNP	C	TCGA-FG-A6IZ-01A-11D-A31L-08		15561315	119973432	39	25725											
TYSND1	219743	broad.mit.edu	37	10	71899723	71899723	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr10:71899723C>T	ENST00000287078.6	-	4	1657	c.1658G>A	c.(1657-1659)cGg>cAg	p.R553Q	TYSND1_ENST00000494143.1_5'UTR|TYSND1_ENST00000335494.5_3'UTR	NM_173555.2	NP_775826.2	Q2T9J0	TYSD1_HUMAN	trypsin domain containing 1	553					proteolysis	peroxisome	serine-type endopeptidase activity			endometrium(2)|large_intestine(2)|liver(1)|lung(3)|prostate(1)	9						CCGCTGCAACCGCCACACCAC	0.627													6	92					0	0	1	0	0	T	71899723	C	T	71899723	3	4	217	1	0	0	0	0	1	0	0	0	16879	652	23	1	46	1	TYSND1	10	71899723	Missense_Mutation	SNP	C	TCGA-FG-A6IZ-01A-11D-A31L-08	56338408	71899723	63635024	40	25726											
GBF1	8729	broad.mit.edu	37	10	104122359	104122361	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr10:104122359_104122361delAGA	ENST00000369983.3	+	15	2071_2073	c.1811_1813delAGA	c.(1810-1815)gagaag>gag	p.K606del		NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN	golgi brefeldin A resistant guanine nucleotide exchange factor 1	606					COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		ACCCAGCAAGAGAAGAAGGAGAC	0.483													9	125	---	---	---	---						-	104122361	AGA	-	104122359	7	5	217	1	0	1	0	1	0	0	0	0	6311	304	11	0	1865	0	GBF1	10	104122359	In_Frame_Del	DEL	AGA	TCGA-FG-A6IZ-01A-11D-A31L-08	32222636	104122359	31412388	41	25727											
OR52K1	390036	broad.mit.edu	37	11	4510367	4510367	+	Silent	SNP	G	G	A			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr11:4510367G>A	ENST00000307632.3	+	1	259	c.237G>A	c.(235-237)acG>acA	p.T79T		NM_001005171.2	NP_001005171.2	Q8NGK4	O52K1_HUMAN	olfactory receptor, family 52, subfamily K, member 1	79					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(18)|skin(2)|stomach(1)	32		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;1.76e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0836)|LUSC - Lung squamous cell carcinoma(625;0.192)		CTTCTACAACGCTGCCCAAAA	0.483													5	81					0	0	1	0	0	A	4510367	G	A	4510367	2	1	217	1	0	0	0	0	0	0	0	1	11171	1074	38	1		1	OR52K1	11	4510367	Silent	SNP	G	TCGA-FG-A6IZ-01A-11D-A31L-08		4510367	130496149	42	25728											
ZNF215	7762	broad.mit.edu	37	11	6977625	6977625	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr11:6977625C>T	ENST00000278319.5	+	7	2005	c.1417C>T	c.(1417-1419)Cgg>Tgg	p.R473W	ZNF215_ENST00000529903.1_Intron|ZNF215_ENST00000414517.2_Missense_Mutation_p.R473W	NM_013250.2	NP_037382.2	Q9UL58	ZN215_HUMAN	zinc finger protein 215	473					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(4)	32				Epithelial(150;6.33e-08)|BRCA - Breast invasive adenocarcinoma(625;0.134)		ATCCTTCAACCGGAGCTCCTC	0.388													7	115					0	0	1	0	0	T	6977625	C	T	6977625	3	4	217	1	0	0	0	0	1	0	0	0	17829	643	23	1	1435	1	ZNF215	11	6977625	Missense_Mutation	SNP	C	TCGA-FG-A6IZ-01A-11D-A31L-08	2467258	6977625	128028891	43	25729											
SPTY2D1	144108	broad.mit.edu	37	11	18636782	18636782	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr11:18636782G>A	ENST00000336349.5	-	3	1274	c.1039C>T	c.(1039-1041)Cat>Tat	p.H347Y		NM_194285.2	NP_919261.2	Q68D10	SPT2_HUMAN	SPT2, Suppressor of Ty, domain containing 1 (S. cerevisiae)	347	Ser-rich.									breast(4)|cervix(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|skin(1)|stomach(1)	30						TGGCTAGGATGGGACAGAGAT	0.542													34	258					0	0	1	0	0	A	18636782	G	A	18636782	3	1	217	1	0	0	0	0	1	0	0	0	15182	1348	47	2	1034	2	SPTY2D1	11	18636782	Missense_Mutation	SNP	G	TCGA-FG-A6IZ-01A-11D-A31L-08	11659157	18636782	116369734	44	25730											
OR6Q1	219952	broad.mit.edu	37	11	57798864	57798864	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr11:57798864G>A	ENST00000302622.3	+	1	463	c.440G>A	c.(439-441)cGt>cAt	p.R147H	OR9Q1_ENST00000335397.3_Intron	NM_001005186.2	NP_001005186.2	Q8NGQ2	OR6Q1_HUMAN	olfactory receptor, family 6, subfamily Q, member 1	147					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			biliary_tract(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(21;0.0707)|all_epithelial(135;0.142)				ACCTGCATCCGTCTGGCAGCT	0.507													5	126					0	0	1	0	0	A	57798864	G	A	57798864	3	1	217	1	0	0	0	0	1	0	0	0	11255	1145	40	1	442	1	OR6Q1	11	57798864	Missense_Mutation	SNP	G	TCGA-FG-A6IZ-01A-11D-A31L-08	39162082	57798864	77207652	45	25731											
ARAP1	116985	broad.mit.edu	37	11	72398486	72398486	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr11:72398486G>A	ENST00000359373.5	-	32	5001	c.4150C>T	c.(4150-4152)Cag>Tag	p.Q1384*	ARAP1_ENST00000393605.3_Nonsense_Mutation_p.Q1155*|ARAP1_ENST00000429686.1_Nonsense_Mutation_p.Q1078*|ARAP1_ENST00000495878.1_5'UTR|ARAP1-AS1_ENST00000542022.1_RNA|ARAP1_ENST00000393609.3_Nonsense_Mutation_p.Q1395*|ARAP1_ENST00000455638.2_Nonsense_Mutation_p.Q1384*|ARAP1_ENST00000334211.8_Nonsense_Mutation_p.Q1150*|ARAP1_ENST00000426523.1_Nonsense_Mutation_p.Q1139*			Q96P48	ARAP1_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1	1395	PH 4.				actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction	cytosol|Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|Rho GTPase activator activity|zinc ion binding			cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						CCTGGTACCTGCACAAACAGA	0.577													5	183					0	0	1	0	0	A	72398486	G	A	72398486	4	1	217	1	0	0	0	0	0	1	0	0	835	1328	46	2	181	2	ARAP1	11	72398486	Nonsense_Mutation	SNP	G	TCGA-FG-A6IZ-01A-11D-A31L-08	14599622	72398486	62608030	46	25732											
CUL5	8065	broad.mit.edu	37	11	107948957	107948957	+	Missense_Mutation	SNP	A	A	G			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr11:107948957A>G	ENST00000393094.2	+	11	1784	c.1168A>G	c.(1168-1170)Aag>Gag	p.K390E		NM_003478.3	NP_003469.2	Q93034	CUL5_HUMAN	cullin 5	390					cell cycle arrest|cell proliferation|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process|viral reproduction	cullin-RING ubiquitin ligase complex|cytosol	calcium channel activity|receptor activity|ubiquitin protein ligase binding			endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	23		all_cancers(61;7.09e-10)|all_epithelial(67;2.97e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|Melanoma(852;4.48e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;3.58e-05)|Epithelial(105;4.68e-05)|all cancers(92;0.00122)|OV - Ovarian serous cystadenocarcinoma(223;0.217)		ATTACCTTTGAAGCAGAAGGG	0.264													47	180					0	0	1	0	0	G	107948957	A	G	107948957	3	3	217	1	0	0	0	0	1	0	0	0	4082	247	9	3	1210	3	CUL5	11	107948957	Missense_Mutation	SNP	A	TCGA-FG-A6IZ-01A-11D-A31L-08	35550471	107948957	27057559	47	25733											
CBL	867	broad.mit.edu	37	11	119103190	119103190	+	Silent	SNP	G	G	A			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr11:119103190G>A	ENST00000264033.4	+	2	604	c.228G>A	c.(226-228)gcG>gcA	p.A76A		NM_005188.3	NP_005179.2	P22681	CBL_HUMAN	Cbl proto-oncogene, E3 ubiquitin protein ligase	76	4H.|Cbl-PTB.				epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of receptor-mediated endocytosis	cytosol|nucleus	calcium ion binding|sequence-specific DNA binding transcription factor activity|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(194)|kidney(3)|large_intestine(9)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	251		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784)		CAAAGCTGGCGCTAAAGAATA	0.433			"T, Mis S, O"	MLL	"AML, JMML, MDS"				Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies				11	87					0	0	1	0	0	A	119103190	G	A	119103190	2	1	217	1	0	0	0	0	0	0	0	1	2718	1074	38	1		1	CBL	11	119103190	Silent	SNP	G	TCGA-FG-A6IZ-01A-11D-A31L-08	11154233	119103190	15903326	48	25734											
GRIN2B	2904	broad.mit.edu	37	12	13717461	13717461	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr12:13717461G>A	ENST00000609686.1	-	13	2920	c.2711C>T	c.(2710-2712)aCg>aTg	p.T904M		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B						response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GTTCTTGGCCGTGCGCAGCAG	0.582													9	290					0	0	1	0	0	A	13717461	G	A	13717461	3	1	217	1	0	0	0	0	1	0	0	0	6821	1145	40	1	1747	1	GRIN2B	12	13717461	Missense_Mutation	SNP	G	TCGA-FG-A6IZ-01A-11D-A31L-08		13717461	120134434	49	25735											
DNM1L	10059	broad.mit.edu	37	12	32861134	32861135	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr12:32861134_32861135delAG	ENST00000452533.2	+	4	509_510	c.345_346delAG	c.(343-348)acagaafs	p.E116fs	DNM1L_ENST00000358214.5_Frame_Shift_Del_p.E129fs|DNM1L_ENST00000266481.6_Frame_Shift_Del_p.E116fs|DNM1L_ENST00000381000.4_Frame_Shift_Del_p.E129fs|DNM1L_ENST00000414834.2_Intron|DNM1L_ENST00000548671.1_3'UTR|DNM1L_ENST00000547312.1_Frame_Shift_Del_p.E116fs|DNM1L_ENST00000553257.1_Frame_Shift_Del_p.E129fs|DNM1L_ENST00000549701.1_Frame_Shift_Del_p.E116fs	NM_012062.3|NM_012063.2	NP_036192.2|NP_036193.2	O00429	DNM1L_HUMAN	dynamin 1-like	116	GTPase domain.				cellular component disassembly involved in apoptosis|mitochondrial fragmentation involved in apoptosis|mitochondrial membrane organization|positive regulation of mitochondrial fission	cis-Golgi network|cytosol|endomembrane system|endoplasmic reticulum|mitochondrial outer membrane	GTP binding|GTPase activity|ubiquitin protein ligase binding			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	23	Lung NSC(5;2.15e-06)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					AAAATGAAACAGAAAGAATTTC	0.262													21	22	---	---	---	---						-	32861135	AG	-	32861134	7	5	217	1	0	1	0	1	0	0	0	0	4698	175	7	0	359	0	DNM1L	12	32861134	Frame_Shift_Del	DEL	AG	TCGA-FG-A6IZ-01A-11D-A31L-08	19143673	32861134	100990761	50	25736											
ADAMTS20	80070	broad.mit.edu	37	12	43944870	43944870	+	Missense_Mutation	SNP	A	A	G			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr12:43944870A>G	ENST00000389420.3	-	2	294	c.295T>C	c.(295-297)Ttt>Ctt	p.F99L	ADAMTS20_ENST00000553158.1_Missense_Mutation_p.F99L	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	99						proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		GCGGCCAGAAAGGATGCATCG	0.672													7	42					0	0	1	0	0	G	43944870	A	G	43944870	3	3	217	1	0	0	0	0	1	0	0	0	265	72	3	3	5588	3	ADAMTS20	12	43944870	Missense_Mutation	SNP	A	TCGA-FG-A6IZ-01A-11D-A31L-08	11083736	43944870	89907025	51	25737											
ARID2	196528	broad.mit.edu	37	12	46285864	46285864	+	Missense_Mutation	SNP	A	A	T			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr12:46285864A>T	ENST00000334344.6	+	18	5304	c.5132A>T	c.(5131-5133)cAg>cTg	p.Q1711L	ARID2_ENST00000457135.1_Missense_Mutation_p.Q319L|ARID2_ENST00000422737.1_Missense_Mutation_p.Q1562L|ARID2_ENST00000444670.1_Missense_Mutation_p.Q1321L|ARID2_ENST00000479608.1_3'UTR	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	1711					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		GCAGGAAGTCAGAAGTCTTCT	0.383			"N, S, F"		hepatocellular carcinoma								6	41					0	0	1	0	0	T	46285864	A	T	46285864	3	4	217	1	0	0	0	0	1	0	0	0	912	188	7	5	5202	5	ARID2	12	46285864	Missense_Mutation	SNP	A	TCGA-FG-A6IZ-01A-11D-A31L-08	2340994	46285864	87566031	52	25738											
C12orf74	338809	broad.mit.edu	37	12	93100524	93100524	+	Silent	SNP	G	G	A			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr12:93100524G>A	ENST00000544406.2	+	2	383	c.117G>A	c.(115-117)cgG>cgA	p.R39R	C12orf74_ENST00000397833.3_Silent_p.R39R			Q32Q52	CL074_HUMAN	chromosome 12 open reading frame 74	39										kidney(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(2)	10						AGTTTGACCGGCAAGCCCCAG	0.627													4	103					0	0	1	0	0	A	93100524	G	A	93100524	2	1	217	1	0	0	0	0	0	0	0	1	1720	1190	42	2		2	C12orf74	12	93100524	Silent	SNP	G	TCGA-FG-A6IZ-01A-11D-A31L-08	46814660	93100524	40751371	53	25739											
SPATA13	221178	broad.mit.edu	37	13	24823639	24823639	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr13:24823639C>T	ENST00000424834.2	+	5	2151	c.1678C>T	c.(1678-1680)Cga>Tga	p.R560*	SPATA13_ENST00000382095.4_5'UTR|SPATA13_ENST00000474317.1_3'UTR|RP11-307N16.6_ENST00000382141.4_Intron|SPATA13_ENST00000382108.3_Nonsense_Mutation_p.R560*			Q96N96	SPT13_HUMAN	spermatogenesis associated 13	218	PH.				cell migration|filopodium assembly|lamellipodium assembly|regulation of cell migration|regulation of Rho protein signal transduction	cytoplasm|filopodium|lamellipodium|ruffle membrane	protein binding|Rac guanyl-nucleotide exchange factor activity			breast(4)|endometrium(2)|large_intestine(9)|lung(4)|ovary(1)|prostate(1)|skin(2)	23		all_cancers(29;4.05e-15)|all_lung(29;2.77e-14)|all_epithelial(30;7.77e-13)|Lung SC(185;0.0279)		all cancers(112;0.00616)|Epithelial(112;0.0195)|OV - Ovarian serous cystadenocarcinoma(117;0.0705)|Lung(94;0.231)		CCCCTGGAGGCGAAGCTCATC	0.537													8	1					0	0	1	0	0	T	24823639	C	T	24823639	4	4	217	1	0	0	0	0	0	1	0	0	15056	760	27	1	1684	1	SPATA13	13	24823639	Nonsense_Mutation	SNP	C	TCGA-FG-A6IZ-01A-11D-A31L-08		24823639	90346239	54	25740											
SPG20	23111	broad.mit.edu	37	13	36888512	36888512	+	Silent	SNP	A	A	G			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr13:36888512A>G	ENST00000451493.1	-	6	1552	c.1335T>C	c.(1333-1335)acT>acC	p.T445T	SPG20_ENST00000355182.4_Silent_p.T445T|SPG20_ENST00000494062.2_Silent_p.T445T|SPG20_ENST00000438666.2_Silent_p.T445T	NM_001142295.1	NP_001135767.1	Q8N0X7	SPG20_HUMAN	spastic paraplegia 20 (Troyer syndrome)	445					cell death	cytoplasm	ubiquitin protein ligase binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	27		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;2.42e-08)|Epithelial(112;1.58e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00128)|BRCA - Breast invasive adenocarcinoma(63;0.0125)|GBM - Glioblastoma multiforme(144;0.026)		TTGCCTTACCAGTAATCTCAG	0.408													22	54					0	0	1	0	0	G	36888512	A	G	36888512	2	3	217	1	0	0	0	0	0	0	0	1	15098	175	7	3		3	SPG20	13	36888512	Silent	SNP	A	TCGA-FG-A6IZ-01A-11D-A31L-08	12064873	36888512	78281366	55	25741											
TPP2	7174	broad.mit.edu	37	13	103282539	103282539	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr13:103282539G>A	ENST00000376052.3	+	10	1254	c.1238G>A	c.(1237-1239)gGa>gAa	p.G413E	TPP2_ENST00000376065.4_Missense_Mutation_p.G413E			P29144	TPP2_HUMAN	tripeptidyl peptidase II	413					proteolysis	cytoplasm|nucleus	aminopeptidase activity|serine-type endopeptidase activity|tripeptidyl-peptidase activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	52	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TCTTCTAGAGGACCTAGGTAG	0.408													12	41					0	0	1	0	0	A	103282539	G	A	103282539	3	1	217	1	0	0	0	0	1	0	0	0	16473	1174	41	2	1276	2	TPP2	13	103282539	Missense_Mutation	SNP	G	TCGA-FG-A6IZ-01A-11D-A31L-08	66394027	103282539	11887339	56	25742											
TDP1	55775	broad.mit.edu	37	14	90509460	90509460	+	Missense_Mutation	SNP	G	G	A	rs75808917	byFrequency	TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr14:90509460G>A	ENST00000555880.1	+	14	1701	c.1691G>A	c.(1690-1692)cGc>cAc	p.R564H	TDP1_ENST00000393452.3_3'UTR|TDP1_ENST00000335725.4_Silent_p.T600T|TDP1_ENST00000393454.2_Silent_p.T600T|TDP1_ENST00000357382.3_Silent_p.T361T			Q9NUW8	TYDP1_HUMAN	tyrosyl-DNA phosphodiesterase 1	0					cell death|double-strand break repair|single strand break repair	cytoplasm|nucleus	3'-tyrosyl-DNA phosphodiesterase activity|double-stranded DNA binding|exonuclease activity|protein binding|single-stranded DNA binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|urinary_tract(1)	25		all_cancers(154;0.185)		COAD - Colon adenocarcinoma(157;0.23)		CACCGGATACGCATGGGAACA	0.418								Repair of DNA-protein crosslinks					5	75					0	0	1	0	0	A	90509460	G	A	90509460	3	1	217	1	0	0	0	0	1	0	0	0	15787	1074	38	1	1858	1	TDP1	14	90509460	Missense_Mutation	SNP	G	TCGA-FG-A6IZ-01A-11D-A31L-08		90509460	16840080	57	25743											
CATSPERB	79820	broad.mit.edu	37	14	92083964	92083964	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr14:92083964C>T	ENST00000256343.3	-	20	2533	c.2377G>A	c.(2377-2379)Gca>Aca	p.A793T		NM_024764.2	NP_079040.2	Q9H7T0	CTSRB_HUMAN	catsper channel auxiliary subunit beta	793					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54		all_cancers(154;0.0663)|all_epithelial(191;0.236)				TTGCTAGCTGCAGAAATTGTT	0.299													3	36					0	0	1	0	0	T	92083964	C	T	92083964	3	4	217	1	0	0	0	0	1	0	0	0	2709	710	25	2	1005	2	CATSPERB	14	92083964	Missense_Mutation	SNP	C	TCGA-FG-A6IZ-01A-11D-A31L-08	1574504	92083964	15265576	58	25744											
SLC12A6	9990	broad.mit.edu	37	15	34528987	34528987	+	Silent	SNP	G	G	A			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr15:34528987G>A	ENST00000354181.3	-	23	3456	c.2964C>T	c.(2962-2964)taC>taT	p.Y988Y	SLC12A6_ENST00000397707.2_Silent_p.Y973Y|SLC12A6_ENST00000558667.1_Silent_p.Y988Y|SLC12A6_ENST00000290209.5_Silent_p.Y937Y|SLC12A6_ENST00000458406.2_Silent_p.Y929Y|SLC12A6_ENST00000558589.1_Silent_p.Y979Y|SLC12A6_ENST00000560611.1_Silent_p.Y988Y|SLC12A6_ENST00000397702.2_Silent_p.Y929Y|SLC12A6_ENST00000451844.2_Silent_p.Y800Y|SLC12A6_ENST00000560164.1_Silent_p.Y800Y			Q9UHW9	S12A6_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 6	988					angiogenesis|cellular hypotonic salinity response|potassium ion transport|sodium ion transport	basolateral plasma membrane|integral to membrane	potassium:chloride symporter activity			central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3)	45		all_lung(180;2.78e-08)		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	Potassium Chloride(DB00761)	AAGTGCGCTCGTAAGTATATG	0.433													48	63					0	0	1	0	0	A	34528987	G	A	34528987	2	1	217	1	0	0	0	0	0	0	0	1	14442	1140	40	1		1	SLC12A6	15	34528987	Silent	SNP	G	TCGA-FG-A6IZ-01A-11D-A31L-08		34528987	68002405	59	25745											
PAK6	56924	broad.mit.edu	37	15	40564820	40564820	+	Silent	SNP	C	C	T	rs149826022	byFrequency	TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr15:40564820C>T	ENST00000455577.2	+	6	2166	c.1254C>T	c.(1252-1254)acC>acT	p.T418T	PAK6_ENST00000260404.4_Silent_p.T418T|PAK6_ENST00000542403.2_Silent_p.T418T|PAK6_ENST00000560346.1_Silent_p.T418T|PAK6_ENST00000441369.1_Silent_p.T418T|PAK6_ENST00000453867.1_Silent_p.T418T|RP11-133K1.2_ENST00000558658.1_3'UTR	NM_001276718.1	NP_001263647.1	Q9NQU5	PAK6_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 6	418	Protein kinase.						ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|cervix(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(2)	24		all_cancers(109;1.13e-18)|all_epithelial(112;1.62e-15)|Lung NSC(122;5.67e-11)|all_lung(180;1.41e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0823)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.51e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0544)		AGGGCTCCACCGGCATCGTCT	0.637													41	51					0	0	1	0	0	T	40564820	C	T	40564820	2	4	217	1	0	0	0	0	0	0	0	1	11451	639	23	1		1	PAK6	15	40564820	Silent	SNP	C	TCGA-FG-A6IZ-01A-11D-A31L-08	6035833	40564820	61966572	60	25746											
E4F1	1877	broad.mit.edu	37	16	2278405	2278405	+	Missense_Mutation	SNP	C	C	G			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr16:2278405C>G	ENST00000301727.4	+	2	238	c.190C>G	c.(190-192)Cag>Gag	p.Q64E	E4F1_ENST00000564139.1_Missense_Mutation_p.Q64E|E4F1_ENST00000565090.1_Missense_Mutation_p.Q64E	NM_004424.3	NP_004415.2	Q66K89	E4F1_HUMAN	E4F transcription factor 1	64	Required for ubiquitin ligase activity.				cell division|cell proliferation|interspecies interaction between organisms|mitosis|regulation of growth	cytoplasm|nucleoplasm	DNA binding|ligase activity|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			ovary(1)	1						CGGCCGCTGCCAGGCAGAGTT	0.662													27	30					0	0	1	0	0	G	2278405	C	G	2278405	3	3	217	1	0	0	0	0	1	0	0	0	4900	595	21	5	196	5	E4F1	16	2278405	Missense_Mutation	SNP	C	TCGA-FG-A6IZ-01A-11D-A31L-08		2278405	88076348	61	25747											
MYH11	4629	broad.mit.edu	37	16	15876277	15876277	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr16:15876277C>T	ENST00000452625.2	-	7	799	c.712G>A	c.(712-714)Gcc>Acc	p.A238T	MYH11_ENST00000576790.2_Missense_Mutation_p.A231T|MYH11_ENST00000300036.5_Missense_Mutation_p.A231T|MYH11_ENST00000396324.3_Missense_Mutation_p.A238T	NM_001040113.1	NP_001035202.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	231	Myosin head-like.				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						ACTGTTTTGGCGTTGCCGAAA	0.468			T	CBFB	AML								4	99					0	0	1	0	0	T	15876277	C	T	15876277	3	4	217	1	0	0	0	0	1	0	0	0	10079	768	27	1	5406	1	MYH11	16	15876277	Missense_Mutation	SNP	C	TCGA-FG-A6IZ-01A-11D-A31L-08	13597872	15876277	74478476	62	25748											
IGSF6	10261	broad.mit.edu	37	16	21655635	21655635	+	Silent	SNP	G	G	A			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr16:21655635G>A	ENST00000268389.4	-	3	571	c.510C>T	c.(508-510)tgC>tgT	p.C170C	METTL9_ENST00000396014.4_Intron|METTL9_ENST00000358154.3_Intron	NM_005849.3	NP_005840.2	O95976	IGSF6_HUMAN	immunoglobulin superfamily, member 6	170					cell surface receptor linked signaling pathway|immune response	integral to plasma membrane	transmembrane receptor activity			endometrium(1)|large_intestine(1)|lung(4)|urinary_tract(1)	7				GBM - Glioblastoma multiforme(48;0.066)		TGAAGGCCACGCACACACCGG	0.413													8	171					0	0	1	0	0	A	21655635	G	A	21655635	2	1	217	1	0	0	0	0	0	0	0	1	7647	1079	38	1		1	IGSF6	16	21655635	Silent	SNP	G	TCGA-FG-A6IZ-01A-11D-A31L-08	5779358	21655635	68699118	63	25749											
SLC5A11	115584	broad.mit.edu	37	16	24883542	24883542	+	Splice_Site	SNP	T	T	G			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr16:24883542T>G	ENST00000347898.3	+	5	994		c.e5+2		SLC5A11_ENST00000569071.1_Splice_Site|SLC5A11_ENST00000545376.1_Splice_Site|SLC5A11_ENST00000539472.1_Splice_Site|SLC5A11_ENST00000565769.1_Splice_Site|SLC5A11_ENST00000568579.1_Splice_Site|SLC5A11_ENST00000424767.2_Splice_Site|SLC5A11_ENST00000449109.2_Splice_Site|SLC5A11_ENST00000567758.1_Splice_Site	NM_052944.3	NP_443176.2	Q8WWX8	SC5AB_HUMAN	solute carrier family 5 (sodium/inositol cotransporter), member 11						apoptosis|carbohydrate transport|sodium ion transport	integral to membrane|plasma membrane	polyol transmembrane transporter activity|symporter activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(30)|ovary(2)|prostate(2)|urinary_tract(1)	49				GBM - Glioblastoma multiforme(48;0.0365)		GCTGGTCAGGTGAGTCGGGGG	0.552													13	295					0	0	1	0	0	G	24883542	T	G	24883542	5	3	217	1	0	0	0	0	0	0	1	0	14718	1710	59	5	388	5	SLC5A11	16	24883542	Splice_Site	SNP	T	TCGA-FG-A6IZ-01A-11D-A31L-08	3227907	24883542	65471211	64	25750											
YPEL3	83719	broad.mit.edu	37	16	30106634	30106634	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr16:30106634C>T	ENST00000562641.1	-	1	699	c.170G>A	c.(169-171)cGg>cAg	p.R57Q	YPEL3_ENST00000566595.1_Missense_Mutation_p.R19Q|YPEL3_ENST00000398841.1_Missense_Mutation_p.R57Q|YPEL3_ENST00000398838.4_Missense_Mutation_p.R19Q|YPEL3_ENST00000563788.1_Missense_Mutation_p.R19Q|YPEL3_ENST00000566134.1_Missense_Mutation_p.R19Q|YPEL3_ENST00000565479.1_5'UTR			P61236	YPEL3_HUMAN	yippee-like 3 (Drosophila)	19						nucleolus				endometrium(1)|lung(2)	3						GCTATACCTCCGGTGACAATC	0.642													72	96					0	0	1	0	0	T	30106634	C	T	30106634	3	4	217	1	0	0	0	0	1	0	0	0	17551	652	23	1	319	1	YPEL3	16	30106634	Missense_Mutation	SNP	C	TCGA-FG-A6IZ-01A-11D-A31L-08	5223092	30106634	60248119	65	25751											
SREBF1	6720	broad.mit.edu	37	17	17723758	17723758	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr17:17723758C>T	ENST00000355815.4	-	3	428	c.259G>A	c.(259-261)Ggg>Agg	p.G87R	SREBF1_ENST00000338854.5_Missense_Mutation_p.G57R|SREBF1_ENST00000435530.2_Missense_Mutation_p.G57R|SREBF1_ENST00000261646.5_Missense_Mutation_p.G57R|SREBF1_ENST00000583732.1_5'UTR	NM_001005291.2	NP_001005291.1	P36956	SRBP1_HUMAN	sterol regulatory element binding transcription factor 1	57	Pro/Ser-rich.				cellular response to starvation|cholesterol metabolic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter	endoplasmic reticulum|endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleus	protein binding|sequence-specific DNA binding transcription factor activity|sterol response element binding			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	14						TCTGTGCCCCCTGCCCCACTC	0.587													11	70					0	0	1	0	0	T	17723758	C	T	17723758	3	4	217	1	0	0	0	0	1	0	0	0	15197	681	24	2	3346	2	SREBF1	17	17723758	Missense_Mutation	SNP	C	TCGA-FG-A6IZ-01A-11D-A31L-08		17723758	63471452	66	25752											
RNF112	7732	broad.mit.edu	37	17	19316068	19316068	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr17:19316068C>T	ENST00000461366.1	+	3	568	c.353C>T	c.(352-354)cCg>cTg	p.P118L	RNF112_ENST00000580109.1_3'UTR|CTB-187M2.2_ENST00000579897.1_RNA	NM_007148.4	NP_009079.2	Q7Z5V9	Q7Z5V9_HUMAN	ring finger protein 112	118							GTP binding|GTPase activity|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|urinary_tract(1)	12						AAGCTCCTGCCGCAGCGGCCG	0.642													4	67					0	0	1	0	0	T	19316068	C	T	19316068	3	4	217	1	0	0	0	0	1	0	0	0	13478	652	23	1		1	RNF112	17	19316068	Missense_Mutation	SNP	C	TCGA-FG-A6IZ-01A-11D-A31L-08	1592310	19316068	61879142	67	25753											
SLFN12	55106	broad.mit.edu	37	17	33738466	33738466	+	Missense_Mutation	SNP	G	G	T			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr17:33738466G>T	ENST00000394562.1	-	6	2151	c.1628C>A	c.(1627-1629)tCt>tAt	p.S543Y	SLFN12_ENST00000460530.1_5'UTR|SLFN12_ENST00000304905.5_Missense_Mutation_p.S543Y|SLFN12_ENST00000452764.3_Missense_Mutation_p.S543Y			Q8IYM2	SLN12_HUMAN	schlafen family member 12	543							ATP binding			breast(1)|kidney(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GTCTCTCAGAGACTTGAGTCT	0.343													29	40					4.87955e-14	4.87955e-14	1	1	0	T	33738466	G	T	33738466	3	4	217	1	0	0	0	0	1	0	0	0	14789	942	33	4	112	4	SLFN12	17	33738466	Missense_Mutation	SNP	G	TCGA-FG-A6IZ-01A-11D-A31L-08	14422398	33738466	47456744	68	25754											
CALCOCO2	10241	broad.mit.edu	37	17	46925765	46925765	+	Missense_Mutation	SNP	C	C	G			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr17:46925765C>G	ENST00000258947.3	+	4	466	c.365C>G	c.(364-366)cCt>cGt	p.P122R	CALCOCO2_ENST00000509507.1_Missense_Mutation_p.P143R|CALCOCO2_ENST00000416445.2_Missense_Mutation_p.P122R|CALCOCO2_ENST00000448105.2_Missense_Mutation_p.P146R|CALCOCO2_ENST00000508679.1_Missense_Mutation_p.P50R	NM_001261390.1|NM_001261391.1|NM_001261393.1|NM_001261395.1|NM_005831.4	NP_001248319.1|NP_001248320.1|NP_001248322.1|NP_001248324.1|NP_005822.1	Q13137	CACO2_HUMAN	calcium binding and coiled-coil domain 2	122					response to interferon-gamma|viral reproduction	cytoskeleton|Golgi apparatus|nucleus|perinuclear region of cytoplasm|soluble fraction	protein homodimerization activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	15						GCAAGTATTCCTTTCCAATTC	0.448													7	133					0	0	1	0	0	G	46925765	C	G	46925765	3	3	217	1	0	0	0	0	1	0	0	0	2596	681	24	4	375	4	CALCOCO2	17	46925765	Missense_Mutation	SNP	C	TCGA-FG-A6IZ-01A-11D-A31L-08	13187299	46925765	34269445	69	25755											
SLC16A6	9120	broad.mit.edu	37	17	66267106	66267106	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr17:66267106T>C	ENST00000327268.4	-	6	1359	c.1195A>G	c.(1195-1197)Ata>Gta	p.I399V	ARSG_ENST00000448504.2_Intron|SLC16A6_ENST00000580666.1_Missense_Mutation_p.I399V	NM_001174166.1	NP_001167637.1	O15403	MOT7_HUMAN	solute carrier family 16, member 6	399						integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity			large_intestine(3)|lung(8)|prostate(1)|skin(1)|urinary_tract(2)	15	all_cancers(12;1.24e-09)		BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)		Pyruvic acid(DB00119)	GTCCCTCCTATTGTTCCAACC	0.443													35	143					0	0	1	0	0	C	66267106	T	C	66267106	3	2	217	1	0	0	0	0	1	0	0	0	14467	1493	52	3	384	3	SLC16A6	17	66267106	Missense_Mutation	SNP	T	TCGA-FG-A6IZ-01A-11D-A31L-08	19341341	66267106	14928104	70	25756											
ZNRF4	148066	broad.mit.edu	37	19	5456174	5456174	+	Silent	SNP	C	C	T			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr19:5456174C>T	ENST00000222033.4	+	1	749	c.672C>T	c.(670-672)gtC>gtT	p.V224V		NM_181710.3	NP_859061.3	Q8WWF5	ZNRF4_HUMAN	zinc and ring finger 4	224	PA.					integral to membrane	zinc ion binding			NS(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;0.0002)		ACCTGCGGGTCATCCTGGGCT	0.677													11	132					0	0	1	0	0	T	5456174	C	T	5456174	2	4	217	1	0	0	0	0	0	0	0	1	18256	813	29	2		2	ZNRF4	19	5456174	Silent	SNP	C	TCGA-FG-A6IZ-01A-11D-A31L-08		5456174	53672809	71	25757											
EMR1	2015	broad.mit.edu	37	19	6924761	6924761	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr19:6924761G>A	ENST00000312053.4	+	15	1901	c.1864G>A	c.(1864-1866)Gcc>Acc	p.A622T	EMR1_ENST00000450315.3_Missense_Mutation_p.A445T|EMR1_ENST00000250572.8_Intron|EMR1_ENST00000381407.5_Missense_Mutation_p.A481T|EMR1_ENST00000381404.4_Missense_Mutation_p.A570T	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 1	622					cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					CTTGGCCATCGCCACCTTTCT	0.527													4	96					0	0	1	0	0	A	6924761	G	A	6924761	3	1	217	1	0	0	0	0	1	0	0	0	5132	1087	38	1	1922	1	EMR1	19	6924761	Missense_Mutation	SNP	G	TCGA-FG-A6IZ-01A-11D-A31L-08	1468587	6924761	52204222	72	25758											
MAST3	23031	broad.mit.edu	37	19	18260436	18260436	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr19:18260436C>T	ENST00000262811.6	+	27	3830	c.3830C>T	c.(3829-3831)cCg>cTg	p.P1277L	AC007192.6_ENST00000600364.2_RNA	NM_015016.1	NP_055831.1	O60307	MAST3_HUMAN	microtubule associated serine/threonine kinase 3								ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1)	31						TTCGATGAGCCGCAGGAGGAG	0.667													4	48					0	0	1	0	0	T	18260436	C	T	18260436	3	4	217	1	0	0	0	0	1	0	0	0	9376	652	23	1	3936	1	MAST3	19	18260436	Missense_Mutation	SNP	C	TCGA-FG-A6IZ-01A-11D-A31L-08	11335675	18260436	40868547	73	25759											
CIC	23152	broad.mit.edu	37	19	42799051	42799051	+	Missense_Mutation	SNP	G	G	T			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr19:42799051G>T	ENST00000572681.2	+	21	7321	c.7253G>T	c.(7252-7254)cGt>cTt	p.R2418L	CIC_ENST00000575354.2_Missense_Mutation_p.R1512L|CIC_ENST00000160740.3_Missense_Mutation_p.R1510L			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	1512					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				TTGAAGATCCGTGAGGTGCGC	0.627			"Mis, F, S"		oligodendroglioma								62	6					5.82089e-37	5.87581e-37	1	1	0	T	42799051	G	T	42799051	3	4	217	1	0	0	0	0	1	0	0	0	3446	1145	40	5	4613	5	CIC	19	42799051	Missense_Mutation	SNP	G	TCGA-FG-A6IZ-01A-11D-A31L-08	24538615	42799051	16329932	74	25760											
VN1R2	317701	broad.mit.edu	37	19	53762633	53762633	+	Silent	SNP	C	C	T			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr19:53762633C>T	ENST00000341702.3	+	1	1089	c.1005C>T	c.(1003-1005)taC>taT	p.Y335Y	VN1R2_ENST00000598458.1_Intron	NM_173856.2	NP_776255.2	Q8NFZ6	VN1R2_HUMAN	vomeronasal 1 receptor 2	335					response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(134;0.00301)		TCATCACCTACGTTTATTTAG	0.443													19	97					0	0	1	0	0	T	53762633	C	T	53762633	2	4	217	1	0	0	0	0	0	0	0	1	17239	547	19	1		1	VN1R2	19	53762633	Silent	SNP	C	TCGA-FG-A6IZ-01A-11D-A31L-08	10963582	53762633	5366350	75	25761											
SIRPA	140885	broad.mit.edu	37	20	1905410	1905410	+	Splice_Site	SNP	A	A	G			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr20:1905410A>G	ENST00000358771.4	+	5	1240	c.1088A>G	c.(1087-1089)gAg>gGg	p.E363G	SIRPA_ENST00000400068.3_Splice_Site_p.E363G|SIRPA_ENST00000356025.3_Splice_Site_p.E363G	NM_001040023.1	NP_001035112.1	P78324	SHPS1_HUMAN	signal-regulatory protein alpha	363					blood coagulation|cell adhesion|cell junction assembly|leukocyte migration	integral to membrane|plasma membrane	SH3 domain binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21				Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556)		TGGTCCCTAGAGAACACTGGA	0.488													4	57					0	0	1	0	0	G	1905410	A	G	1905410	5	3	217	1	0	0	0	0	0	0	1	0	14387	318	11	3	1106	3	SIRPA	20	1905410	Splice_Site	SNP	A	TCGA-FG-A6IZ-01A-11D-A31L-08		1905410	61120110	76	25762											
TMC2	117532	broad.mit.edu	37	20	2591146	2591146	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr20:2591146C>T	ENST00000358864.1	+	12	1510	c.1495C>T	c.(1495-1497)Cgc>Tgc	p.R499C	TMC2_ENST00000496948.1_3'UTR	NM_080751.2	NP_542789.2	Q8TDI7	TMC2_HUMAN	transmembrane channel-like 2	499						integral to membrane				NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						TTACCACCCACGCACTGGACT	0.532													12	148					0	0	1	0	0	T	2591146	C	T	2591146	3	4	217	1	0	0	0	0	1	0	0	0	16045	536	19	1	1541	1	TMC2	20	2591146	Missense_Mutation	SNP	C	TCGA-FG-A6IZ-01A-11D-A31L-08	685736	2591146	60434374	77	25763											
JAG1	182	broad.mit.edu	37	20	10620233	10620233	+	Silent	SNP	C	C	T			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr20:10620233C>T	ENST00000254958.5	-	26	4085	c.3570G>A	c.(3568-3570)ccG>ccA	p.P1190P	JAG1_ENST00000423891.2_Silent_p.P1031P	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN	jagged 1	1190					angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation	extracellular region|integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding|structural molecule activity			biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						GGTGTTTTGTCGGCGTGCCGT	0.542									Alagille Syndrome				17	325					0	0	1	0	0	T	10620233	C	T	10620233	2	4	217	1	0	0	0	0	0	0	0	1	7978	871	31	1		1	JAG1	20	10620233	Silent	SNP	C	TCGA-FG-A6IZ-01A-11D-A31L-08	8029087	10620233	52405287	78	25764											
NCOA6	23054	broad.mit.edu	37	20	33345723	33345723	+	Silent	SNP	C	C	T			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr20:33345723C>T	ENST00000374796.2	-	8	3398	c.828G>A	c.(826-828)caG>caA	p.Q276Q	NCOA6_ENST00000359003.2_Silent_p.Q276Q			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	276	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						gctgttgttgctgctgctgct	0.537													4	70					0	0	1	0	0	T	33345723	C	T	33345723	2	4	217	1	0	0	0	0	0	0	0	1	10280	796	28	2		2	NCOA6	20	33345723	Silent	SNP	C	TCGA-FG-A6IZ-01A-11D-A31L-08	22725490	33345723	29679797	79	25765											
LRRC3	81543	broad.mit.edu	37	21	45876948	45876948	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr21:45876948C>T	ENST00000291592.4	+	2	738	c.421C>T	c.(421-423)Cgc>Tgc	p.R141C		NM_030891.3	NP_112153.1	Q9BY71	LRRC3_HUMAN	leucine rich repeat containing 3	141						integral to membrane	protein binding			endometrium(2)|kidney(1)|lung(1)|urinary_tract(1)	5		Breast(209;0.00908)		COAD - Colon adenocarcinoma(84;0.148)|Lung(125;0.195)		CGCCAAGATACGCCTGTCCCA	0.672													9	76					0	0	1	0	0	T	45876948	C	T	45876948	3	4	217	1	0	0	0	0	1	0	0	0	9029	536	19	1	423	1	LRRC3	21	45876948	Missense_Mutation	SNP	C	TCGA-FG-A6IZ-01A-11D-A31L-08		45876948	2252947	80	25766											
COL18A1	80781	broad.mit.edu	37	21	46925298	46925306	+	In_Frame_Del	DEL	CCCCCTGGG	CCCCCTGGG	-			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr21:46925298_46925306delCCCCCTGGG	ENST00000359759.4	+	35	4306_4314	c.4285_4293delCCCCCTGGG	c.(4285-4293)ccccctgggdel	p.PPG1435del	COL18A1_ENST00000355480.5_In_Frame_Del_p.PPG1200del|SLC19A1_ENST00000567670.1_Intron|COL18A1_ENST00000400337.2_In_Frame_Del_p.PPG1020del			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	1435	Triple-helical region 10 (COL10).				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		CCCTCCGGGCccccctgggccccctgggc	0.713													12	45	---	---	---	---						-	46925306	CCCCCTGGG	-	46925298	7	5	217	1	0	1	0	1	0	0	0	0	3698	623	22	0	4532	0	COL18A1	21	46925298	In_Frame_Del	DEL	CCCCCTGGG	TCGA-FG-A6IZ-01A-11D-A31L-08	1048350	46925298	1204597	81	25767											
PLCXD1	55344	broad.mit.edu	37	X	205505	205505	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chrX:205505G>A	ENST00000381657.2	+	3	747	c.233G>A	c.(232-234)cGc>cAc	p.R78H	PLCXD1_ENST00000484611.2_3'UTR|PLCXD1_ENST00000399012.1_Missense_Mutation_p.R78H|PLCXD1_ENST00000381663.3_Missense_Mutation_p.R78H	NM_018390.3	NP_060860.1	Q9NUJ7	PLCX1_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 1	78	PI-PLC X-box.				intracellular signal transduction|lipid metabolic process		phospholipase C activity			endometrium(3)|large_intestine(1)|lung(7)	11		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				TGCATCACGCGCCCTGTCGTG	0.637													5	97					0	0	1	0	0	A	205505	G	A	205505	3	1	217	1	0	0	0	0	1	0	0	0	12089	1087	38	1	239	1	PLCXD1	23	205505	Missense_Mutation	SNP	G	TCGA-FG-A6IZ-01A-11D-A31L-08		205505	155065055	82	25768											
CCDC22	28952	broad.mit.edu	37	X	49093692	49093692	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chrX:49093692C>T	ENST00000376227.3	+	2	360	c.190C>T	c.(190-192)Cgg>Tgg	p.R64W	CCDC22_ENST00000496651.1_3'UTR	NM_014008.3	NP_054727.1	O60826	CCD22_HUMAN	coiled-coil domain containing 22	64										NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1)	18						CATGTCTGCCCGGTTCCGCCT	0.592													24	33					0	0	1	0	0	T	49093692	C	T	49093692	3	4	217	1	0	0	0	0	1	0	0	0	2816	643	23	1	196	1	CCDC22	23	49093692	Missense_Mutation	SNP	C	TCGA-FG-A6IZ-01A-11D-A31L-08	48888187	49093692	106176868	83	25769											
PHF8	23133	broad.mit.edu	37	X	53966856	53966856	+	Missense_Mutation	SNP	G	G	C			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chrX:53966856G>C	ENST00000338154.6	-	21	3247	c.2743C>G	c.(2743-2745)Ctg>Gtg	p.L915V	PHF8_ENST00000357988.5_Missense_Mutation_p.L951V|PHF8_ENST00000338946.6_Missense_Mutation_p.L814V	NM_015107.2	NP_055922.1	Q9UPP1	PHF8_HUMAN	PHD finger protein 8	951					brain development|G1/S transition of mitotic cell cycle|negative regulation of chromatin silencing at rDNA|positive regulation of transcription from RNA polymerase I promoter|transcription, DNA-dependent	nucleolus	chromatin binding|histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	40						GGTACTGTCAGACTGAGATTG	0.532													3	21					0	0	1	0	0	C	53966856	G	C	53966856	3	2	217	1	0	0	0	0	1	0	0	0	11888	933	33	4	422	4	PHF8	23	53966856	Missense_Mutation	SNP	G	TCGA-FG-A6IZ-01A-11D-A31L-08	4873164	53966856	101303704	84	25770											
LHFPL1	340596	broad.mit.edu	37	X	111914413	111914413	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chrX:111914413C>T	ENST00000371968.3	-	2	445	c.206G>A	c.(205-207)cGc>cAc	p.R69H	LHFPL1_ENST00000478229.1_Intron|LHFPL1_ENST00000536453.1_Missense_Mutation_p.R69H	NM_178175.3	NP_835469.1	Q86WI0	LHPL1_HUMAN	lipoma HMGIC fusion partner-like 1	69						integral to membrane		p.R69H(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)	13						GCTGGCATAGCGCCCACATTC	0.592													5	93					0	0	1	0	0	T	111914413	C	T	111914413	3	4	217	1	0	0	0	0	1	0	0	0	8804	768	27	1	468	1	LHFPL1	23	111914413	Missense_Mutation	SNP	C	TCGA-FG-A6IZ-01A-11D-A31L-08	57947557	111914413	43356147	85	25771											
F9	2158	broad.mit.edu	37	X	138643994	138643994	+	Nonsense_Mutation	SNP	C	C	T	rs137852261		TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chrX:138643994C>T	ENST00000218099.2	+	8	1157	c.1150C>T	c.(1150-1152)Cga>Tga	p.R384*	F9_ENST00000394090.2_Nonsense_Mutation_p.R346*	NM_000133.3	NP_000124.1	P00740	FA9_HUMAN	coagulation factor IX	384	Peptidase S1.		R -> L (in THR-FIX; factor IX Padua; higher specific activity than wild-type).		blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen|plasma membrane	calcium ion binding|serine-type endopeptidase activity	p.R384*(3)		breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|skin(1)	35	Acute lymphoblastic leukemia(192;0.000127)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Heparin(DB01109)|Menadione(DB00170)	CACATGTCTTCGATCTACAAA	0.463													5	75					0	0	1	0	0	T	138643994	C	T	138643994	4	4	217	1	0	0	0	0	0	1	0	0	5382	876	31	1	1180	1	F9	23	138643994	Nonsense_Mutation	SNP	C	TCGA-FG-A6IZ-01A-11D-A31L-08	26729581	138643994	16626566	86	25772											
KIF1B	23095	broad.mit.edu	37	1	10386358	10386358	+	Silent	SNP	C	C	G			TCGA-FG-A6J1-01A-11D-A31L-08	TCGA-FG-A6J1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c3188d-0dd0-4959-b16e-ff7a3f07e4a9	e6228344-5da9-4635-a757-db83c5c7939c	g.chr1:10386358C>G	ENST00000377086.1	+	27	3067	c.2865C>G	c.(2863-2865)ctC>ctG	p.L955L	KIF1B_ENST00000263934.6_Silent_p.L909L|KIF1B_ENST00000377081.1_Silent_p.L955L			O60333	KIF1B_HUMAN	kinesin family member 1B	955					anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		GATCAGATCTCTTCAGTGACG	0.532													56	16					0	0	1	0	0	G	10386358	C	G	10386358	2	3	218	1	0	0	0	0	0	0	0	1	8326	900	32	4		4	KIF1B	1	10386358	Silent	SNP	C	TCGA-FG-A6J1-01A-11D-A31L-08		10386358	238864263	1	25773											
DCST1	149095	broad.mit.edu	37	1	155014235	155014235	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A6J1-01A-11D-A31L-08	TCGA-FG-A6J1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c3188d-0dd0-4959-b16e-ff7a3f07e4a9	e6228344-5da9-4635-a757-db83c5c7939c	g.chr1:155014235G>A	ENST00000295542.1	+	8	890	c.794G>A	c.(793-795)cGc>cAc	p.R265H	DCST1_ENST00000423025.2_Missense_Mutation_p.R240H|DCST1_ENST00000392480.1_Missense_Mutation_p.R265H|DCST1_ENST00000368419.2_Missense_Mutation_p.R265H	NM_152494.3	NP_689707.2	Q5T197	DCST1_HUMAN	DC-STAMP domain containing 1	265						integral to membrane	zinc ion binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	27	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			TGGTTTGACCGCAAGCATGAA	0.537													4	147					0	0	1	0	0	A	155014235	G	A	155014235	3	1	218	1	0	0	0	0	1	0	0	0	4325	1087	38	1	820	1	DCST1	1	155014235	Missense_Mutation	SNP	G	TCGA-FG-A6J1-01A-11D-A31L-08	144627877	155014235	94236386	2	25774											
MYOC	4653	broad.mit.edu	37	1	171605167	171605167	+	Nonsense_Mutation	SNP	A	A	T			TCGA-FG-A6J1-01A-11D-A31L-08	TCGA-FG-A6J1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c3188d-0dd0-4959-b16e-ff7a3f07e4a9	e6228344-5da9-4635-a757-db83c5c7939c	g.chr1:171605167A>T	ENST00000037502.6	-	3	1484	c.1413T>A	c.(1411-1413)taT>taA	p.Y471*		NM_000261.1	NP_000252.1	Q99972	MYOC_HUMAN	myocilin, trabecular meshwork inducible glucocorticoid response		Olfactomedin-like.		Y -> C (in GLC1A; uncertain pathogenicity).		anatomical structure morphogenesis	cilium|extracellular space|rough endoplasmic reticulum	structural molecule activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(1)|urinary_tract(2)	28	all_cancers(6;5.47e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					TGCTGTACTTATAGCGGTTCT	0.488													25	110					0	0	1	0	0	T	171605167	A	T	171605167	4	4	218	1	0	0	0	0	0	1	0	0	10134	456	16	4	105	4	MYOC	1	171605167	Nonsense_Mutation	SNP	A	TCGA-FG-A6J1-01A-11D-A31L-08	16590932	171605167	77645454	3	25775											
OBSCN	84033	broad.mit.edu	37	1	228557667	228557667	+	Silent	SNP	C	C	T			TCGA-FG-A6J1-01A-11D-A31L-08	TCGA-FG-A6J1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c3188d-0dd0-4959-b16e-ff7a3f07e4a9	e6228344-5da9-4635-a757-db83c5c7939c	g.chr1:228557667C>T	ENST00000570156.2	+	102	22937	c.22863C>T	c.(22861-22863)gcC>gcT	p.A7621A	OBSCN_ENST00000366707.4_Silent_p.A4298A|OBSCN_ENST00000422127.1_Silent_p.A6664A	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	6664	Fibronectin type-III 4.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CCCCATTTGCCGGCGAGAGTG	0.627													4	103					0	0	1	0	0	T	228557667	C	T	228557667	2	4	218	1	0	0	0	0	0	0	0	1	10860	639	23	1		1	OBSCN	1	228557667	Silent	SNP	C	TCGA-FG-A6J1-01A-11D-A31L-08	56952500	228557667	20692954	4	25776											
RYR2	6262	broad.mit.edu	37	1	237863644	237863644	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A6J1-01A-11D-A31L-08	TCGA-FG-A6J1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c3188d-0dd0-4959-b16e-ff7a3f07e4a9	e6228344-5da9-4635-a757-db83c5c7939c	g.chr1:237863644C>T	ENST00000366574.2	+	65	9561	c.9244C>T	c.(9244-9246)Cac>Tac	p.H3082Y	RYR2_ENST00000542537.1_Missense_Mutation_p.H3066Y|RYR2_ENST00000360064.6_Missense_Mutation_p.H3080Y|RYR2_ENST00000609119.1_3'UTR	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3082					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.H3080N(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CCAGTTCACTCACACCCGAAA	0.493													6	3					0	0	1	0	0	T	237863644	C	T	237863644	3	4	218	1	0	0	0	0	1	0	0	0	13821	826	29	2	9502	2	RYR2	1	237863644	Missense_Mutation	SNP	C	TCGA-FG-A6J1-01A-11D-A31L-08	9305977	237863644	11386977	5	25777											
NBEAL1	65065	broad.mit.edu	37	2	204001498	204001498	+	Splice_Site	SNP	G	G	A			TCGA-FG-A6J1-01A-11D-A31L-08	TCGA-FG-A6J1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c3188d-0dd0-4959-b16e-ff7a3f07e4a9	e6228344-5da9-4635-a757-db83c5c7939c	g.chr2:204001498G>A	ENST00000449802.1	+	28	4811		c.e28+1			NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1								binding			NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						TAAAACTAACGTAAGCATTTA	0.348													5	95					0	0	1	0	0	A	204001498	G	A	204001498	5	1	218	1	0	0	0	0	0	0	1	0	10236	1159	40	1	4585	1	NBEAL1	2	204001498	Splice_Site	SNP	G	TCGA-FG-A6J1-01A-11D-A31L-08		204001498	39197875	6	25778											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-FG-A6J1-01A-11D-A31L-08	TCGA-FG-A6J1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c3188d-0dd0-4959-b16e-ff7a3f07e4a9	e6228344-5da9-4635-a757-db83c5c7939c	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	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								34	41					0	0	1	0	0	T	209113112	C	T	209113112	3	4	218	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-FG-A6J1-01A-11D-A31L-08	5111614	209113112	34086261	7	25779											
ZNF662	389114	broad.mit.edu	37	3	42956752	42956752	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A6J1-01A-11D-A31L-08	TCGA-FG-A6J1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c3188d-0dd0-4959-b16e-ff7a3f07e4a9	e6228344-5da9-4635-a757-db83c5c7939c	g.chr3:42956752C>T	ENST00000541208.1	+	5	1556	c.1187C>T	c.(1186-1188)gCc>gTc	p.A396V	KRBOX1_ENST00000426937.1_Intron|ZNF662_ENST00000422021.1_Intron|ZNF662_ENST00000328199.6_Missense_Mutation_p.A422V|ZNF662_ENST00000440367.2_Missense_Mutation_p.A396V			Q6ZS27	ZN662_HUMAN	zinc finger protein 662	396					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|large_intestine(6)|lung(5)|upper_aerodigestive_tract(1)	15				KIRC - Kidney renal clear cell carcinoma(284;0.217)		TGTGGGAAGGCCTTCAGTCAG	0.428													6	66					0	0	1	0	0	T	42956752	C	T	42956752	3	4	218	1	0	0	0	0	1	0	0	0	18128	739	26	2	1388	2	ZNF662	3	42956752	Missense_Mutation	SNP	C	TCGA-FG-A6J1-01A-11D-A31L-08		42956752	155065678	8	25780											
CBLB	868	broad.mit.edu	37	3	105452941	105452941	+	Missense_Mutation	SNP	A	A	G			TCGA-FG-A6J1-01A-11D-A31L-08	TCGA-FG-A6J1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c3188d-0dd0-4959-b16e-ff7a3f07e4a9	e6228344-5da9-4635-a757-db83c5c7939c	g.chr3:105452941A>G	ENST00000264122.4	-	9	1436	c.1115T>C	c.(1114-1116)cTc>cCc	p.L372P	CBLB_ENST00000405772.1_Missense_Mutation_p.L372P|CBLB_ENST00000545639.1_3'UTR|CBLB_ENST00000403724.1_Missense_Mutation_p.L372P|CBLB_ENST00000394027.3_Missense_Mutation_p.L394P	NM_170662.3	NP_733762.2	Q13191	CBLB_HUMAN	Cbl proto-oncogene B, E3 ubiquitin protein ligase	372	Linker.				cell surface receptor linked signaling pathway|NLS-bearing substrate import into nucleus	cytoplasm|nucleus	calcium ion binding|ligase activity|signal transducer activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2)	49						AATCTTACAGAGCTGAAAAGT	0.398			Mis S		AML								20	52					0	0	1	0	0	G	105452941	A	G	105452941	3	3	218	1	0	0	0	0	1	0	0	0	2719	304	11	3	1877	3	CBLB	3	105452941	Missense_Mutation	SNP	A	TCGA-FG-A6J1-01A-11D-A31L-08	62496189	105452941	92569489	9	25781											
ZBTB20	26137	broad.mit.edu	37	3	114069124	114069124	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-A6J1-01A-11D-A31L-08	TCGA-FG-A6J1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c3188d-0dd0-4959-b16e-ff7a3f07e4a9	e6228344-5da9-4635-a757-db83c5c7939c	g.chr3:114069124T>C	ENST00000462705.1	-	11	2403	c.1582A>G	c.(1582-1584)Aca>Gca	p.T528A	ZBTB20_ENST00000474710.1_Missense_Mutation_p.T601A|ZBTB20_ENST00000357258.3_Missense_Mutation_p.T528A|ZBTB20_ENST00000471418.1_Missense_Mutation_p.T528A|ZBTB20_ENST00000481632.1_Missense_Mutation_p.T528A|ZBTB20_ENST00000464560.1_Missense_Mutation_p.T528A|ZBTB20_ENST00000393785.2_Missense_Mutation_p.T528A	NM_001164343.1	NP_001157815.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	601					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		CACTCACCTGTGTGTACGAAC	0.547													18	165					0	0	1	0	0	C	114069124	T	C	114069124	3	2	218	1	0	0	0	0	1	0	0	0	17588	1696	59	3	432	3	ZBTB20	3	114069124	Missense_Mutation	SNP	T	TCGA-FG-A6J1-01A-11D-A31L-08	8616183	114069124	83953306	10	25782											
OTOL1	131149	broad.mit.edu	37	3	161221128	161221128	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A6J1-01A-11D-A31L-08	TCGA-FG-A6J1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c3188d-0dd0-4959-b16e-ff7a3f07e4a9	e6228344-5da9-4635-a757-db83c5c7939c	g.chr3:161221128G>A	ENST00000327928.4	+	4	832	c.832G>A	c.(832-834)Ggc>Agc	p.G278S		NM_001080440.1	NP_001073909.1	A6NHN0	OTOL1_HUMAN	otolin 1	278	Collagen-like 3.					collagen				central_nervous_system(2)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)	27						AGGCAAAAGCGGCCGTAATGG	0.542													4	20					0	0	1	0	0	A	161221128	G	A	161221128	3	1	218	1	0	0	0	0	1	0	0	0	11351	1116	39	1	846	1	OTOL1	3	161221128	Missense_Mutation	SNP	G	TCGA-FG-A6J1-01A-11D-A31L-08	47152004	161221128	36801302	11	25783											
PDGFRA	5156	broad.mit.edu	37	4	55141093	55141093	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-A6J1-01A-11D-A31L-08	TCGA-FG-A6J1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c3188d-0dd0-4959-b16e-ff7a3f07e4a9	e6228344-5da9-4635-a757-db83c5c7939c	g.chr4:55141093T>C	ENST00000257290.5	+	12	2070	c.1739T>C	c.(1738-1740)cTg>cCg	p.L580P	FIP1L1_ENST00000507166.1_Splice_Site_p.L340P	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	580					cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	CCGATGCAGCTGCCTTATGAC	0.458			"Mis, O, T"	FIP1L1	"GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			5	72					0	0	1	0	0	C	55141093	T	C	55141093	3	2	218	1	0	0	0	0	1	0	0	0	11708	1580	55	3	1781	3	PDGFRA	4	55141093	Missense_Mutation	SNP	T	TCGA-FG-A6J1-01A-11D-A31L-08		55141093	136013183	12	25784											
DFNA5	1687	broad.mit.edu	37	7	24747789	24747789	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A6J1-01A-11D-A31L-08	TCGA-FG-A6J1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c3188d-0dd0-4959-b16e-ff7a3f07e4a9	e6228344-5da9-4635-a757-db83c5c7939c	g.chr7:24747789G>A	ENST00000545231.1	-	9	1605	c.455C>T	c.(454-456)gCg>gTg	p.A152V	DFNA5_ENST00000409970.1_Missense_Mutation_p.A152V|DFNA5_ENST00000342947.3_Missense_Mutation_p.A316V|DFNA5_ENST00000409775.3_Missense_Mutation_p.A316V|DFNA5_ENST00000419307.1_Missense_Mutation_p.A152V			O60443	DFNA5_HUMAN	deafness, autosomal dominant 5	316					sensory perception of sound					endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)|stomach(1)	19						AAATAGGACCGCCTGGAAGAT	0.512													3	39					0	0	1	0	0	A	24747789	G	A	24747789	3	1	218	1	0	0	0	0	1	0	0	0	4482	1087	38	1	559	1	DFNA5	7	24747789	Missense_Mutation	SNP	G	TCGA-FG-A6J1-01A-11D-A31L-08		24747789	134390874	13	25785											
PURB	5814	broad.mit.edu	37	7	44924342	44924342	+	Silent	SNP	G	G	A			TCGA-FG-A6J1-01A-11D-A31L-08	TCGA-FG-A6J1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c3188d-0dd0-4959-b16e-ff7a3f07e4a9	e6228344-5da9-4635-a757-db83c5c7939c	g.chr7:44924342G>A	ENST00000395699.2	-	1	618	c.606C>T	c.(604-606)ggC>ggT	p.G202G		NM_033224.3	NP_150093.1	Q96QR8	PURB_HUMAN	purine-rich element binding protein B	202	Gly-rich.				regulation of myeloid cell differentiation	DNA replication factor A complex	mRNA binding|single-stranded DNA binding|transcription factor binding	p.G202G(1)		large_intestine(2)|lung(3)|prostate(1)|skin(1)	7						ctcccgggccgccTGCCAGCT	0.701													11	54					0	0	1	0	0	A	44924342	G	A	44924342	2	1	218	1	0	0	0	0	0	0	0	1	12880	1074	38	1		1	PURB	7	44924342	Silent	SNP	G	TCGA-FG-A6J1-01A-11D-A31L-08	20176553	44924342	114214321	14	25786											
UPK3B	80761	broad.mit.edu	37	7	76141108	76141108	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A6J1-01A-11D-A31L-08	TCGA-FG-A6J1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c3188d-0dd0-4959-b16e-ff7a3f07e4a9	e6228344-5da9-4635-a757-db83c5c7939c	g.chr7:76141108G>A	ENST00000419923.2	+	2	760	c.535G>A	c.(535-537)Gga>Aga	p.G179R	UPK3B_ENST00000448265.3_Missense_Mutation_p.G179R|UPK3B_ENST00000443097.2_Missense_Mutation_p.G124R|UPK3B_ENST00000334348.3_Missense_Mutation_p.G124R|UPK3B_ENST00000257632.5_Missense_Mutation_p.G179R|UPK3B_ENST00000394849.1_Missense_Mutation_p.G124R			Q9BT76	UPK3B_HUMAN	uroplakin 3B	179					negative regulation of gene expression	integral to membrane|plasma membrane				breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(1)|lung(1)|skin(2)	8		Myeloproliferative disorder(862;0.204)				GGCGGGCAGCGGAGGCGCCCC	0.706													5	8					0	0	1	0	0	A	76141108	G	A	76141108	3	1	218	1	0	0	0	0	1	0	0	0	17071	1117	39	1	541	1	UPK3B	7	76141108	Missense_Mutation	SNP	G	TCGA-FG-A6J1-01A-11D-A31L-08	31216766	76141108	82997555	15	25787											
TRRAP	8295	broad.mit.edu	37	7	98547852	98547852	+	Silent	SNP	C	C	T	rs113411331		TCGA-FG-A6J1-01A-11D-A31L-08	TCGA-FG-A6J1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c3188d-0dd0-4959-b16e-ff7a3f07e4a9	e6228344-5da9-4635-a757-db83c5c7939c	g.chr7:98547852C>T	ENST00000359863.4	+	37	5489	c.5280C>T	c.(5278-5280)aaC>aaT	p.N1760N	TRRAP_ENST00000446306.3_Silent_p.N1741N|TRRAP_ENST00000355540.3_Silent_p.N1742N	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	1760					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TAGACTTCAACGACCCCAACT	0.428													42	58					0	0	1	0	0	T	98547852	C	T	98547852	2	4	218	1	0	0	0	0	0	0	0	1	16662	535	19	1		1	TRRAP	7	98547852	Silent	SNP	C	TCGA-FG-A6J1-01A-11D-A31L-08	22406744	98547852	60590811	16	25788											
NUP205	23165	broad.mit.edu	37	7	135272653	135272653	+	Silent	SNP	A	A	G			TCGA-FG-A6J1-01A-11D-A31L-08	TCGA-FG-A6J1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c3188d-0dd0-4959-b16e-ff7a3f07e4a9	e6228344-5da9-4635-a757-db83c5c7939c	g.chr7:135272653A>G	ENST00000285968.6	+	10	1412	c.1386A>G	c.(1384-1386)gaA>gaG	p.E462E	NUP205_ENST00000440390.2_Intron	NM_015135.2	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	462					carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						TTGCTCTAGAATATTGGTGTC	0.468													4	74					0	0	1	0	0	G	135272653	A	G	135272653	2	3	218	1	0	0	0	0	0	0	0	1	10807	98	4	3		3	NUP205	7	135272653	Silent	SNP	A	TCGA-FG-A6J1-01A-11D-A31L-08	36724801	135272653	23866010	17	25789											
ASH2L	9070	broad.mit.edu	37	8	37976813	37976813	+	Frame_Shift_Del	DEL	A	A	-			TCGA-FG-A6J1-01A-11D-A31L-08	TCGA-FG-A6J1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c3188d-0dd0-4959-b16e-ff7a3f07e4a9	e6228344-5da9-4635-a757-db83c5c7939c	g.chr8:37976813delA	ENST00000343823.6	+	9	1188	c.879delA	c.(877-879)ggafs	p.G293fs	ASH2L_ENST00000250635.7_Frame_Shift_Del_p.G199fs|ASH2L_ENST00000545394.1_Frame_Shift_Del_p.G154fs|ASH2L_ENST00000521652.1_Frame_Shift_Del_p.G199fs|ASH2L_ENST00000428278.2_Frame_Shift_Del_p.G199fs	NM_004674.4	NP_004665.2	Q9UBL3	ASH2L_HUMAN	ash2 (absent, small, or homeotic)-like (Drosophila)	293					hemopoiesis|histone H3-K4 methylation|positive regulation of cell proliferation|regulation of transcription, DNA-dependent|response to estrogen stimulus|transcription from RNA polymerase II promoter	Set1C/COMPASS complex	metal ion binding|protein binding|transcription regulatory region DNA binding			NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|stomach(1)	19	Colorectal(12;0.000501)	Lung NSC(58;0.0295)|all_lung(54;0.0413)				GAAGCAGCGGAAAAGGACGAG	0.567													2	4	---	---	---	---						-	37976813	A	-	37976813	7	5	218	1	0	1	0	1	0	0	0	0	1041	233	9	0	913	0	ASH2L	8	37976813	Frame_Shift_Del	DEL	A	TCGA-FG-A6J1-01A-11D-A31L-08		37976813	108387209	18	25790											
EBF3	253738	broad.mit.edu	37	10	131639180	131639180	+	Missense_Mutation	SNP	C	C	T	rs138447716		TCGA-FG-A6J1-01A-11D-A31L-08	TCGA-FG-A6J1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c3188d-0dd0-4959-b16e-ff7a3f07e4a9	e6228344-5da9-4635-a757-db83c5c7939c	g.chr10:131639180C>T	ENST00000368648.3	-	14	1534	c.1462G>A	c.(1462-1464)Gcc>Acc	p.A488T	EBF3_ENST00000355311.5_Missense_Mutation_p.A497T	NM_001005463.2	NP_001005463.1	Q9H4W6	COE3_HUMAN	early B-cell factor 3	497	Pro/Ser/Thr-rich.				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding|protein binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	44		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)		OV - Ovarian serous cystadenocarcinoma(35;0.00513)		CTGGCCATGGCGCCACTTCCA	0.547													12	177					0	0	1	0	0	T	131639180	C	T	131639180	3	4	218	1	0	0	0	0	1	0	0	0	4908	768	27	1	205	1	EBF3	10	131639180	Missense_Mutation	SNP	C	TCGA-FG-A6J1-01A-11D-A31L-08		131639180	3895567	19	25791											
OR4A16	81327	broad.mit.edu	37	11	55111417	55111417	+	Silent	SNP	C	C	T			TCGA-FG-A6J1-01A-11D-A31L-08	TCGA-FG-A6J1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c3188d-0dd0-4959-b16e-ff7a3f07e4a9	e6228344-5da9-4635-a757-db83c5c7939c	g.chr11:55111417C>T	ENST00000314721.2	+	1	791	c.741C>T	c.(739-741)ctC>ctT	p.L247L		NM_001005274.1	NP_001005274.1	Q8NH70	O4A16_HUMAN	olfactory receptor, family 4, subfamily A, member 16	247					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						TGGTTGCCCTCGTTTTTGTTC	0.398													30	48					0	0	1	0	0	T	55111417	C	T	55111417	2	4	218	1	0	0	0	0	0	0	0	1	11089	871	31	1		1	OR4A16	11	55111417	Silent	SNP	C	TCGA-FG-A6J1-01A-11D-A31L-08		55111417	79895099	20	25792											
CLIP1	6249	broad.mit.edu	37	12	122845629	122845629	+	Translation_Start_Site	SNP	G	G	A	rs111985493		TCGA-FG-A6J1-01A-11D-A31L-08	TCGA-FG-A6J1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c3188d-0dd0-4959-b16e-ff7a3f07e4a9	e6228344-5da9-4635-a757-db83c5c7939c	g.chr12:122845629G>A	ENST00000545889.1	-	0	134				CLIP1_ENST00000537178.1_Silent_p.N294N|CLIP1_ENST00000361654.4_Silent_p.N294N|CLIP1_ENST00000540338.1_Silent_p.N294N|CLIP1_ENST00000302528.7_Silent_p.N294N|CLIP1_ENST00000358808.2_Silent_p.N294N			P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1						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)		GCCTCACTGCGTTGGCCTTGG	0.562													14	91					0	0	1	0	0	A	122845629	G	A	122845629	1	1	218	1	0	0	0	0	0	0	0	0	3555	1136	40	1		1	CLIP1	12	122845629	Translation_Start_Site	SNP	G	TCGA-FG-A6J1-01A-11D-A31L-08		122845629	11006266	21	25793											
TBC1D4	9882	broad.mit.edu	37	13	75887015	75887015	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-A6J1-01A-11D-A31L-08	TCGA-FG-A6J1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c3188d-0dd0-4959-b16e-ff7a3f07e4a9	e6228344-5da9-4635-a757-db83c5c7939c	g.chr13:75887015T>C	ENST00000377636.3	-	13	2588	c.2242A>G	c.(2242-2244)Agg>Ggg	p.R748G	TBC1D4_ENST00000377625.2_Missense_Mutation_p.R685G|TBC1D4_ENST00000425511.1_5'UTR|TBC1D4_ENST00000431480.2_Missense_Mutation_p.R740G	NM_014832.2	NP_055647.2	O60343	TBCD4_HUMAN	TBC1 domain family, member 4	748	Ser-rich.					cytoplasm	Rab GTPase activator activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		GATGAGGTCCTTTTTCTCCCT	0.502													3	58					0	0	1	0	0	C	75887015	T	C	75887015	3	2	218	1	0	0	0	0	1	0	0	0	15682	1608	56	3	1690	3	TBC1D4	13	75887015	Missense_Mutation	SNP	T	TCGA-FG-A6J1-01A-11D-A31L-08		75887015	39282863	22	25794											
OR11H4	390442	broad.mit.edu	37	14	20711005	20711005	+	Missense_Mutation	SNP	G	G	A	rs142720326	byFrequency	TCGA-FG-A6J1-01A-11D-A31L-08	TCGA-FG-A6J1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c3188d-0dd0-4959-b16e-ff7a3f07e4a9	e6228344-5da9-4635-a757-db83c5c7939c	g.chr14:20711005G>A	ENST00000315409.2	+	1	108	c.55G>A	c.(55-57)Gtg>Atg	p.V19M		NM_001004479.1	NP_001004479.1	Q8NGC9	O11H4_HUMAN	olfactory receptor, family 11, subfamily H, member 4	19					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	29	all_cancers(95;0.000888)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0146)		AACACACATCGTGACAGAGTT	0.418													6	64					0	0	1	0	0	A	20711005	G	A	20711005	3	1	218	1	0	0	0	0	1	0	0	0	10976	1145	40	1	57	1	OR11H4	14	20711005	Missense_Mutation	SNP	G	TCGA-FG-A6J1-01A-11D-A31L-08		20711005	86638535	23	25795											
FUT8	2530	broad.mit.edu	37	14	66083061	66083061	+	Missense_Mutation	SNP	A	A	G			TCGA-FG-A6J1-01A-11D-A31L-08	TCGA-FG-A6J1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c3188d-0dd0-4959-b16e-ff7a3f07e4a9	e6228344-5da9-4635-a757-db83c5c7939c	g.chr14:66083061A>G	ENST00000360689.5	+	5	2179	c.452A>G	c.(451-453)gAa>gGa	p.E151G	FUT8_ENST00000358307.2_5'UTR|FUT8_ENST00000394586.2_Missense_Mutation_p.E151G|FUT8_ENST00000394585.1_Missense_Mutation_p.E151G|FUT8_ENST00000557164.1_5'UTR	NM_004480.4|NM_178155.2	NP_004471.4|NP_835368.1	Q9BYC5	FUT8_HUMAN	fucosyltransferase 8 (alpha (1,6) fucosyltransferase)	151					in utero embryonic development|L-fucose catabolic process|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein glycosylation in Golgi|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	glycoprotein 6-alpha-L-fucosyltransferase activity|SH3 domain binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	22				all cancers(60;0.00109)|OV - Ovarian serous cystadenocarcinoma(108;0.00242)|BRCA - Breast invasive adenocarcinoma(234;0.0114)		CATGCAGATGAATTTCTTTTG	0.323													5	113					0	0	1	0	0	G	66083061	A	G	66083061	3	3	218	1	0	0	0	0	1	0	0	0	6145	246	9	3	462	3	FUT8	14	66083061	Missense_Mutation	SNP	A	TCGA-FG-A6J1-01A-11D-A31L-08	45372056	66083061	41266479	24	25796											
DUOX1	53905	broad.mit.edu	37	15	45442843	45442843	+	Silent	SNP	T	T	C			TCGA-FG-A6J1-01A-11D-A31L-08	TCGA-FG-A6J1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c3188d-0dd0-4959-b16e-ff7a3f07e4a9	e6228344-5da9-4635-a757-db83c5c7939c	g.chr15:45442843T>C	ENST00000321429.4	+	23	3239	c.2832T>C	c.(2830-2832)ccT>ccC	p.P944P	DUOX1_ENST00000389037.3_Silent_p.P944P|DUOX1_ENST00000561166.1_Silent_p.P590P	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	944					cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		TGGAGGTGCCTGAAGTCATCA	0.602													5	68					0	0	1	0	0	C	45442843	T	C	45442843	2	2	218	1	0	0	0	0	0	0	0	1	4826	1567	55	3		3	DUOX1	15	45442843	Silent	SNP	T	TCGA-FG-A6J1-01A-11D-A31L-08		45442843	57088549	25	25797											
ITGAD	3681	broad.mit.edu	37	16	31422117	31422117	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A6J1-01A-11D-A31L-08	TCGA-FG-A6J1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c3188d-0dd0-4959-b16e-ff7a3f07e4a9	e6228344-5da9-4635-a757-db83c5c7939c	g.chr16:31422117G>A	ENST00000389202.2	+	12	1323	c.1274G>A	c.(1273-1275)cGc>cAc	p.R425H		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	425					cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						GGGGCCCCCCGCTACCAGCAT	0.642													6	112					0	0	1	0	0	A	31422117	G	A	31422117	3	1	218	1	0	0	0	0	1	0	0	0	7928	1087	38	1	1320	1	ITGAD	16	31422117	Missense_Mutation	SNP	G	TCGA-FG-A6J1-01A-11D-A31L-08		31422117	58932636	26	25798											
HSF4	3299	broad.mit.edu	37	16	67203680	67203680	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-A6J1-01A-11D-A31L-08	TCGA-FG-A6J1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c3188d-0dd0-4959-b16e-ff7a3f07e4a9	e6228344-5da9-4635-a757-db83c5c7939c	g.chr16:67203680T>C	ENST00000264009.8	+	15	2436	c.1471T>C	c.(1471-1473)Tcc>Ccc	p.S491P	HSF4_ENST00000421453.1_Missense_Mutation_p.S461P|HSF4_ENST00000521374.1_Missense_Mutation_p.S491P|HSF4_ENST00000584272.1_Missense_Mutation_p.S461P	NM_001040667.2	NP_001035757.1	Q9ULV5	HSF4_HUMAN	heat shock transcription factor 4	491					response to stress	nucleus	sequence-specific DNA binding transcription factor activity|transcription corepressor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	12		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184)		AGCCAGTCCCTCCCCCTAAGA	0.662											OREG0023873	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	142					0	0	1	0	0	C	67203680	T	C	67203680	3	2	218	1	0	0	0	0	1	0	0	0	7439	1551	54	3	1535	3	HSF4	16	67203680	Missense_Mutation	SNP	T	TCGA-FG-A6J1-01A-11D-A31L-08	35781563	67203680	23151073	27	25799											
ACACA	31	broad.mit.edu	37	17	35549066	35549066	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A6J1-01A-11D-A31L-08	TCGA-FG-A6J1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c3188d-0dd0-4959-b16e-ff7a3f07e4a9	e6228344-5da9-4635-a757-db83c5c7939c	g.chr17:35549066G>A	ENST00000353139.5	-	37	4862	c.4381C>T	c.(4381-4383)Cgt>Tgt	p.R1461C	ACACA_ENST00000360679.3_Missense_Mutation_p.R1366C|ACACA_ENST00000394406.2_Missense_Mutation_p.R1424C|ACACA_ENST00000335166.5_Missense_Mutation_p.R1346C	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	1424					acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	p.R1461C(1)|p.R1366C(1)		NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	ATGATTGCACGAACAAAGAAC	0.478													43	40					0	0	1	0	0	A	35549066	G	A	35549066	3	1	218	1	0	0	0	0	1	0	0	0	106	1058	37	1	2850	1	ACACA	17	35549066	Missense_Mutation	SNP	G	TCGA-FG-A6J1-01A-11D-A31L-08		35549066	45646144	28	25800											
THRA	7067	broad.mit.edu	37	17	38240101	38240101	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A6J1-01A-11D-A31L-08	TCGA-FG-A6J1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c3188d-0dd0-4959-b16e-ff7a3f07e4a9	e6228344-5da9-4635-a757-db83c5c7939c	g.chr17:38240101G>A	ENST00000450525.2	+	5	727	c.236G>A	c.(235-237)cGc>cAc	p.R79H	THRA_ENST00000264637.4_Missense_Mutation_p.R79H|THRA_ENST00000546243.1_Missense_Mutation_p.R79H|THRA_ENST00000394121.4_Missense_Mutation_p.R79H|THRA_ENST00000584985.1_Missense_Mutation_p.R79H	NM_199334.3	NP_955366.1	P10827	THA_HUMAN	thyroid hormone receptor, alpha	79					negative regulation of RNA polymerase II transcriptional preinitiation complex assembly|negative regulation of transcription initiation, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription from RNA polymerase II promoter	cytosol|nucleoplasm	protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|TBP-class protein binding|thyroid hormone binding|thyroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding	p.R79H(2)		endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1)	11	Colorectal(19;0.000442)	Myeloproliferative disorder(1115;0.0255)			Levothyroxine(DB00451)|Liothyronine(DB00279)	TTCTTTCGCCGCACAATCCAG	0.547													5	139					0	0	1	0	0	A	38240101	G	A	38240101	3	1	218	1	0	0	0	0	1	0	0	0	15933	1087	38	1	250	1	THRA	17	38240101	Missense_Mutation	SNP	G	TCGA-FG-A6J1-01A-11D-A31L-08	2691035	38240101	42955109	29	25801											
KRT25	147183	broad.mit.edu	37	17	38906790	38906790	+	Silent	SNP	C	C	T			TCGA-FG-A6J1-01A-11D-A31L-08	TCGA-FG-A6J1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c3188d-0dd0-4959-b16e-ff7a3f07e4a9	e6228344-5da9-4635-a757-db83c5c7939c	g.chr17:38906790C>T	ENST00000312150.4	-	6	1077	c.1017G>A	c.(1015-1017)gcG>gcA	p.A339A		NM_181534.3	NP_853512.1	Q7Z3Z0	K1C25_HUMAN	keratin 25	339	Coil 2.|Rod.					cytoplasm|intermediate filament	structural molecule activity	p.A339A(2)		endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4)	16		Breast(137;0.00526)				CCTGGATCTGCGCCAGCTGCG	0.562													23	247					0	0	1	0	0	T	38906790	C	T	38906790	2	4	218	1	0	0	0	0	0	0	0	1	8505	755	27	1		1	KRT25	17	38906790	Silent	SNP	C	TCGA-FG-A6J1-01A-11D-A31L-08	666689	38906790	42288420	30	25802											
NBR1	4077	broad.mit.edu	37	17	41352482	41352482	+	Silent	SNP	A	A	G			TCGA-FG-A6J1-01A-11D-A31L-08	TCGA-FG-A6J1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c3188d-0dd0-4959-b16e-ff7a3f07e4a9	e6228344-5da9-4635-a757-db83c5c7939c	g.chr17:41352482A>G	ENST00000422280.1	+	17	2784	c.2325A>G	c.(2323-2325)gaA>gaG	p.E775E	NBR1_ENST00000341165.6_Silent_p.E775E|NBR1_ENST00000389312.4_Silent_p.E775E|NBR1_ENST00000590996.1_Silent_p.E775E|NBR1_ENST00000589872.1_Silent_p.E775E|NBR1_ENST00000542611.1_Silent_p.E754E	NM_031858.2	NP_114064.1	Q14596	NBR1_HUMAN	neighbor of BRCA1 gene 1	775					macroautophagy|protein oligomerization	autophagic vacuole|cytoplasmic vesicle|cytosol|late endosome|lysosome|sarcomere	ubiquitin binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	24		Breast(137;0.00086)		BRCA - Breast invasive adenocarcinoma(366;0.0934)		CTGGGCAGGAACCAGCTGAGG	0.617													21	19					0	0	1	0	0	G	41352482	A	G	41352482	2	3	218	1	0	0	0	0	0	0	0	1	10247	40	2	3		3	NBR1	17	41352482	Silent	SNP	A	TCGA-FG-A6J1-01A-11D-A31L-08	2445692	41352482	39842728	31	25803											
FBXO15	201456	broad.mit.edu	37	18	71740936	71740936	+	Silent	SNP	C	C	T			TCGA-FG-A6J1-01A-11D-A31L-08	TCGA-FG-A6J1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c3188d-0dd0-4959-b16e-ff7a3f07e4a9	e6228344-5da9-4635-a757-db83c5c7939c	g.chr18:71740936C>T	ENST00000269500.5	-	10	1400	c.1065G>A	c.(1063-1065)ttG>ttA	p.L355L	FBXO15_ENST00000580806.1_5'UTR|FBXO15_ENST00000419743.2_Silent_p.L431L	NM_152676.2	NP_689889.1	Q8NCQ5	FBX15_HUMAN	F-box protein 15	355										autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	27		Esophageal squamous(42;0.103)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.143)		CATGTTCATCCAAAAGAGTTA	0.453													22	199					0	0	1	0	0	T	71740936	C	T	71740936	2	4	218	1	0	0	0	0	0	0	0	1	5761	593	21	2		2	FBXO15	18	71740936	Silent	SNP	C	TCGA-FG-A6J1-01A-11D-A31L-08		71740936	6336312	32	25804											
SH2D3A	10045	broad.mit.edu	37	19	6755032	6755032	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-A6J1-01A-11D-A31L-08	TCGA-FG-A6J1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c3188d-0dd0-4959-b16e-ff7a3f07e4a9	e6228344-5da9-4635-a757-db83c5c7939c	g.chr19:6755032T>C	ENST00000245908.6	-	5	1060	c.791A>G	c.(790-792)gAg>gGg	p.E264G	SH2D3A_ENST00000599563.1_5'UTR|SH2D3A_ENST00000437152.3_Missense_Mutation_p.E142G	NM_005490.2	NP_005481.2	Q9BRG2	SH23A_HUMAN	SH2 domain containing 3A	264	Poly-Glu.				JNK cascade|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|urinary_tract(1)	24						CTCTTCCTCCTCATCCTCCTC	0.622													8	463					0	0	1	0	0	C	6755032	T	C	6755032	3	2	218	1	0	0	0	0	1	0	0	0	14287	1551	54	3	963	3	SH2D3A	19	6755032	Missense_Mutation	SNP	T	TCGA-FG-A6J1-01A-11D-A31L-08		6755032	52373951	33	25805											
ELAVL1	1994	broad.mit.edu	37	19	8038658	8038658	+	Silent	SNP	A	A	G			TCGA-FG-A6J1-01A-11D-A31L-08	TCGA-FG-A6J1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c3188d-0dd0-4959-b16e-ff7a3f07e4a9	e6228344-5da9-4635-a757-db83c5c7939c	g.chr19:8038658A>G	ENST00000407627.2	-	4	510	c.381T>C	c.(379-381)tcT>tcC	p.S127S	ELAVL1_ENST00000351593.5_Silent_p.S154S|ELAVL1_ENST00000593807.1_Silent_p.S127S|ELAVL1_ENST00000596459.1_Silent_p.S127S	NM_001419.2	NP_001410.2	Q15717	ELAV1_HUMAN	ELAV like RNA binding protein 1	127	RRM 2.				3'-UTR-mediated mRNA stabilization|multicellular organismal development	cytoplasm|nucleoplasm	identical protein binding|mRNA binding|nucleotide binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						GCCCAAACCGAGAGAACATGT	0.602													12	69					0	0	1	0	0	G	8038658	A	G	8038658	2	3	218	1	0	0	0	0	0	0	0	1	5077	291	11	3		3	ELAVL1	19	8038658	Silent	SNP	A	TCGA-FG-A6J1-01A-11D-A31L-08	1283626	8038658	51090325	34	25806											
MEF2B	100271849	broad.mit.edu	37	19	19260143	19260143	+	Silent	SNP	G	G	A			TCGA-FG-A6J1-01A-11D-A31L-08	TCGA-FG-A6J1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c3188d-0dd0-4959-b16e-ff7a3f07e4a9	e6228344-5da9-4635-a757-db83c5c7939c	g.chr19:19260143G>A	ENST00000602424.2	-	5	876	c.150C>T	c.(148-150)agC>agT	p.S50S	MEF2B_ENST00000410050.1_Silent_p.S50S|MEF2B_ENST00000409224.1_Silent_p.S50S|MEF2BNB-MEF2B_ENST00000514819.3_Silent_p.S67S|MEF2B_ENST00000424583.2_Silent_p.S50S|MEF2BNB-MEF2B_ENST00000602276.1_5'UTR|MEF2BNB-MEF2B_ENST00000444486.3_Silent_p.S50S|MEF2B_ENST00000409447.2_Silent_p.S50S|MEF2B_ENST00000162023.5_Silent_p.S50S	NM_005919.3	NP_005910.1			myocyte enhancer factor 2B											breast(1)|haematopoietic_and_lymphoid_tissue(21)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(5;0.00011)|Epithelial(12;0.00412)			GGCGGTTGGCGCTGTTGAAGA	0.567													21	35					0	0	1	0	0	A	19260143	G	A	19260143	2	1	218	1	0	0	0	0	0	0	0	1	9506	1078	38	1		1	MEF2B	19	19260143	Silent	SNP	G	TCGA-FG-A6J1-01A-11D-A31L-08	11221485	19260143	39868840	35	25807											
RTEL1	51750	broad.mit.edu	37	20	62324513	62324513	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A6J1-01A-11D-A31L-08	TCGA-FG-A6J1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c3188d-0dd0-4959-b16e-ff7a3f07e4a9	e6228344-5da9-4635-a757-db83c5c7939c	g.chr20:62324513C>T	ENST00000318100.4	+	30	3696	c.2869C>T	c.(2869-2871)Cgg>Tgg	p.R957W	RTEL1_ENST00000508582.2_Missense_Mutation_p.R981W|RTEL1_ENST00000370018.3_Missense_Mutation_p.R957W|RTEL1_ENST00000360203.5_Missense_Mutation_p.R957W|RTEL1-TNFRSF6B_ENST00000482936.1_Missense_Mutation_p.R957W|RTEL1_ENST00000370003.1_Missense_Mutation_p.R202W	NM_001283009.1	NP_001269938.1	Q9NZ71	RTEL1_HUMAN	regulator of telomere elongation helicase 1	957					DNA repair|regulation of double-strand break repair via homologous recombination|telomere maintenance	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)			CCAGTTTGTGCGGCCCCACCA	0.597													4	246					0	0	1	0	0	T	62324513	C	T	62324513	3	4	218	1	0	0	0	0	1	0	0	0	13772	759	27	1	2983	1	RTEL1	20	62324513	Missense_Mutation	SNP	C	TCGA-FG-A6J1-01A-11D-A31L-08		62324513	701007	36	25808											
MYO18B	84700	broad.mit.edu	37	22	26423239	26423239	+	Silent	SNP	C	C	T			TCGA-FG-A6J1-01A-11D-A31L-08	TCGA-FG-A6J1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c3188d-0dd0-4959-b16e-ff7a3f07e4a9	e6228344-5da9-4635-a757-db83c5c7939c	g.chr22:26423239C>T	ENST00000335473.7	+	43	7549	c.7299C>T	c.(7297-7299)taC>taT	p.Y2433Y	MYO18B_ENST00000536101.1_Silent_p.Y2433Y|MYO18B_ENST00000407587.2_Silent_p.Y2434Y	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2433						nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						GCCTCGACTACGAACGCAAGA	0.562													52	125					0	0	1	0	0	T	26423239	C	T	26423239	2	4	218	1	0	0	0	0	0	0	0	1	10114	547	19	1		1	MYO18B	22	26423239	Silent	SNP	C	TCGA-FG-A6J1-01A-11D-A31L-08		26423239	24881327	37	25809											
MORC2	22880	broad.mit.edu	37	22	31328609	31328609	+	Silent	SNP	T	T	C			TCGA-FG-A6J1-01A-11D-A31L-08	TCGA-FG-A6J1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c3188d-0dd0-4959-b16e-ff7a3f07e4a9	e6228344-5da9-4635-a757-db83c5c7939c	g.chr22:31328609T>C	ENST00000397641.3	-	23	3078	c.2670A>G	c.(2668-2670)gaA>gaG	p.E890E	MORC2_ENST00000215862.4_Silent_p.E828E			Q9Y6X9	MORC2_HUMAN	MORC family CW-type zinc finger 2								ATP binding|zinc ion binding			breast(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	21						TGCGGAGGCATTCGGAAGTGG	0.597													19	66					0	0	1	0	0	C	31328609	T	C	31328609	2	2	218	1	0	0	0	0	0	0	0	1	9751	1490	52	3		3	MORC2	22	31328609	Silent	SNP	T	TCGA-FG-A6J1-01A-11D-A31L-08	4905370	31328609	19975957	38	25810											
USP11	8237	broad.mit.edu	37	X	47107222	47107222	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A6J1-01A-11D-A31L-08	TCGA-FG-A6J1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c3188d-0dd0-4959-b16e-ff7a3f07e4a9	e6228344-5da9-4635-a757-db83c5c7939c	g.chrX:47107222C>T	ENST00000377107.2	+	21	3010	c.2656C>T	c.(2656-2658)Cgc>Tgc	p.R886C	USP11_ENST00000218348.3_Missense_Mutation_p.R929C			P51784	UBP11_HUMAN	ubiquitin specific peptidase 11	929					protein deubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|ovary(3)|pancreas(1)|stomach(1)	40						CTTCTACCAACGCCAGGACGT	0.637													33	61					0	0	1	0	0	T	47107222	C	T	47107222	3	4	218	1	0	0	0	0	1	0	0	0	17102	536	19	1	2867	1	USP11	23	47107222	Missense_Mutation	SNP	C	TCGA-FG-A6J1-01A-11D-A31L-08		47107222	108163338	39	25811											
FGD1	2245	broad.mit.edu	37	X	54497147	54497147	+	Silent	SNP	T	T	G			TCGA-FG-A6J1-01A-11D-A31L-08	TCGA-FG-A6J1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c3188d-0dd0-4959-b16e-ff7a3f07e4a9	e6228344-5da9-4635-a757-db83c5c7939c	g.chrX:54497147T>G	ENST00000375135.3	-	3	1261	c.528A>C	c.(526-528)ccA>ccC	p.P176P		NM_004463.2	NP_004454.2	P98174	FGD1_HUMAN	FYVE, RhoGEF and PH domain containing 1	176	Pro-rich.				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|organ morphogenesis|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|nucleus|plasma membrane|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						TGGGCTCCAGTGGGGGGGGCA	0.662													4	13					0	0	1	0	0	G	54497147	T	G	54497147	2	3	218	1	0	0	0	0	0	0	0	1	5865	1683	59	5		5	FGD1	23	54497147	Silent	SNP	T	TCGA-FG-A6J1-01A-11D-A31L-08	7389925	54497147	100773413	40	25812											
POF1B	79983	broad.mit.edu	37	X	84614572	84614572	+	Missense_Mutation	SNP	C	C	A			TCGA-FG-A6J1-01A-11D-A31L-08	TCGA-FG-A6J1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c3188d-0dd0-4959-b16e-ff7a3f07e4a9	e6228344-5da9-4635-a757-db83c5c7939c	g.chrX:84614572C>A	ENST00000262753.4	-	4	566	c.421G>T	c.(421-423)Gta>Tta	p.V141L	POF1B_ENST00000373145.3_Missense_Mutation_p.V141L	NM_024921.3	NP_079197.3	Q8WVV4	POF1B_HUMAN	premature ovarian failure, 1B	141							actin binding			central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)	35						GGATTTTGTACTACATATTTC	0.328													37	53					3.03874e-20	3.03874e-20	1	1	0	A	84614572	C	A	84614572	3	1	218	1	0	0	0	0	1	0	0	0	12230	565	20	4	1404	4	POF1B	23	84614572	Missense_Mutation	SNP	C	TCGA-FG-A6J1-01A-11D-A31L-08	30117425	84614572	70655988	41	25813											
MMEL1	79258	broad.mit.edu	37	1	2527503	2527503	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr1:2527503G>A	ENST00000288709.6	-	15	1658	c.1418C>T	c.(1417-1419)aCg>aTg	p.T473M	MMEL1_ENST00000378412.3_Missense_Mutation_p.T482M|MMEL1_ENST00000502556.1_Missense_Mutation_p.T325M	NM_033467.3	NP_258428.2	Q495T6	MMEL1_HUMAN	membrane metallo-endopeptidase-like 1	482					proteolysis	extracellular region|integral to membrane|intracellular membrane-bounded organelle	metal ion binding|metalloendopeptidase activity			cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1)	27	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)		CTCGTCCAGCGTCTCCACAAA	0.607													5	200					0	0	1	0	0	A	2527503	G	A	2527503	3	1	219	1	0	0	0	0	1	0	0	0	9694	1145	40	1	934	1	MMEL1	1	2527503	Missense_Mutation	SNP	G	TCGA-FG-A6J3-01A-11D-A31L-08		2527503	246723118	1	25814											
PRAMEF12	390999	broad.mit.edu	37	1	12837337	12837337	+	Silent	SNP	C	C	A			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr1:12837337C>A	ENST00000357726.4	+	3	1074	c.1047C>A	c.(1045-1047)acC>acA	p.T349T		NM_001080830.1	NP_001074299.1	O95522	PRA12_HUMAN	PRAME family member 12	349										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1)	23	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CTGAGGCCACCCTGCAGACCC	0.597													10	89					0.0581538	0.0606822	1	1	0	A	12837337	C	A	12837337	2	1	219	1	0	0	0	0	0	0	0	1	12476	610	22	5		5	PRAMEF12	1	12837337	Silent	SNP	C	TCGA-FG-A6J3-01A-11D-A31L-08	10309834	12837337	236413284	2	25815											
PLEKHM2	23207	broad.mit.edu	37	1	16060354	16060354	+	Silent	SNP	G	G	A			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr1:16060354G>A	ENST00000375799.3	+	20	3212	c.2985G>A	c.(2983-2985)ttG>ttA	p.L995L	PLEKHM2_ENST00000375793.2_Silent_p.L975L|PLEKHM2_ENST00000477849.1_3'UTR|RP11-288I21.1_ENST00000453804.1_RNA	NM_015164.2	NP_055979.2	Q8IWE5	PKHM2_HUMAN	pleckstrin homology domain containing, family M (with RUN domain) member 2	995					Golgi organization	cytoplasm	kinesin binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.000259)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00057)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)		AGGATGCCTTGAGCCTCATCC	0.642													39	53					0	0	1	0	0	A	16060354	G	A	16060354	2	1	219	1	0	0	0	0	0	0	0	1	12129	1281	45	2		2	PLEKHM2	1	16060354	Silent	SNP	G	TCGA-FG-A6J3-01A-11D-A31L-08	3223017	16060354	233190267	3	25816											
FUCA1	2517	broad.mit.edu	37	1	24175224	24175224	+	Missense_Mutation	SNP	C	C	A			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr1:24175224C>A	ENST00000374479.3	-	6	1082	c.1075G>T	c.(1075-1077)Ggg>Tgg	p.G359W		NM_000147.4	NP_000138.2	P04066	FUCO_HUMAN	fucosidase, alpha-L- 1, tissue	359					fucose metabolic process|glycosaminoglycan catabolic process	lysosome	alpha-L-fucosidase activity|cation binding			breast(1)|endometrium(1)|large_intestine(3)|lung(3)	8		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.00957)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-24)|Colorectal(126;5.69e-08)|COAD - Colon adenocarcinoma(152;3.15e-06)|GBM - Glioblastoma multiforme(114;9.04e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|KIRC - Kidney renal clear cell carcinoma(1967;0.00342)|STAD - Stomach adenocarcinoma(196;0.0128)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.144)		AGCCATTTCCCAACAGCAAGA	0.463													4	64					0.150653	0.155848	1	1	0	A	24175224	C	A	24175224	3	1	219	1	0	0	0	0	1	0	0	0	6129	594	21	5	337	5	FUCA1	1	24175224	Missense_Mutation	SNP	C	TCGA-FG-A6J3-01A-11D-A31L-08	8114870	24175224	225075397	4	25817											
INADL	10207	broad.mit.edu	37	1	62329953	62329953	+	Missense_Mutation	SNP	A	A	G			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr1:62329953A>G	ENST00000371158.2	+	20	2597	c.2483A>G	c.(2482-2484)gAa>gGa	p.E828G	INADL_ENST00000316485.6_Missense_Mutation_p.E828G	NM_176877.2	NP_795352	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	828					intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						CTTGTGGATGAACCATTTCTA	0.383													5	51					0	0	1	0	0	G	62329953	A	G	62329953	3	3	219	1	0	0	0	0	1	0	0	0	7775	246	9	3	2557	3	INADL	1	62329953	Missense_Mutation	SNP	A	TCGA-FG-A6J3-01A-11D-A31L-08	38154729	62329953	186920668	5	25818											
USP33	23032	broad.mit.edu	37	1	78163125	78163125	+	Missense_Mutation	SNP	C	C	A			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr1:78163125C>A	ENST00000370793.1	-	25	3052	c.2706G>T	c.(2704-2706)tgG>tgT	p.W902C	USP33_ENST00000357428.1_Missense_Mutation_p.W902C|USP33_ENST00000370794.3_Missense_Mutation_p.W871C	NM_015017.4	NP_055832.3	Q8TEY7	UBP33_HUMAN	ubiquitin specific peptidase 33	902	DUSP 2.				axon guidance|cell migration|endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm|VCB complex	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	44						GCAGAAAATTCCATGTTTCTT	0.363													6	114					0.00116845	0.00127467	1	1	0	A	78163125	C	A	78163125	3	1	219	1	0	0	0	0	1	0	0	0	17124	856	30	5	126	5	USP33	1	78163125	Missense_Mutation	SNP	C	TCGA-FG-A6J3-01A-11D-A31L-08	15833172	78163125	171087496	6	25819											
FCRL5	83416	broad.mit.edu	37	1	157516958	157516958	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr1:157516958G>A	ENST00000361835.3	-	3	239	c.82C>T	c.(82-84)Cag>Tag	p.Q28*	FCRL5_ENST00000356953.4_Nonsense_Mutation_p.Q28*|FCRL5_ENST00000368190.3_Nonsense_Mutation_p.Q28*|FCRL5_ENST00000368189.3_Nonsense_Mutation_p.Q28*|FCRL5_ENST00000368188.2_Nonsense_Mutation_p.Q28*|FCRL5_ENST00000368191.3_Intron	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	28	Ig-like C2-type 1.					integral to membrane|plasma membrane	receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				CATGGAGGCTGGAGGAAAATA	0.537													28	96					0	0	1	0	0	A	157516958	G	A	157516958	4	1	219	1	0	0	0	0	0	1	0	0	5831	1357	47	2	2911	2	FCRL5	1	157516958	Nonsense_Mutation	SNP	G	TCGA-FG-A6J3-01A-11D-A31L-08	79353833	157516958	91733663	7	25820											
LAMC2	3918	broad.mit.edu	37	1	183192355	183192355	+	Silent	SNP	T	T	A			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr1:183192355T>A	ENST00000264144.4	+	7	914	c.849T>A	c.(847-849)tcT>tcA	p.S283S	LAMC2_ENST00000493293.1_Silent_p.S283S	NM_005562.2	NP_005553.2	Q13753	LAMC2_HUMAN	laminin, gamma 2	283	Laminin IV type A.				cell adhesion|epidermis development|hemidesmosome assembly		heparin binding			breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						GACACCCATCTGCCCATGATG	0.507													4	76					0	0	1	0	0	A	183192355	T	A	183192355	2	1	219	1	0	0	0	0	0	0	0	1	8654	1567	55	5		5	LAMC2	1	183192355	Silent	SNP	T	TCGA-FG-A6J3-01A-11D-A31L-08	25675397	183192355	66058266	8	25821											
F13B	2165	broad.mit.edu	37	1	197029657	197029657	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr1:197029657G>A	ENST00000367412.1	-	5	687	c.644C>T	c.(643-645)tCt>tTt	p.S215F		NM_001994.2	NP_001985.2	P05160	F13B_HUMAN	coagulation factor XIII, B polypeptide	215	Sushi 4.				blood coagulation	extracellular region				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						TAATCTTAAAGAAGAGCACTT	0.264													9	16					0	0	1	0	0	A	197029657	G	A	197029657	3	1	219	1	0	0	0	0	1	0	0	0	5369	942	33	2	1373	2	F13B	1	197029657	Missense_Mutation	SNP	G	TCGA-FG-A6J3-01A-11D-A31L-08	13837302	197029657	52220964	9	25822											
GPR37L1	9283	broad.mit.edu	37	1	202097469	202097469	+	Missense_Mutation	SNP	A	A	G			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr1:202097469A>G	ENST00000367282.5	+	2	1337	c.1231A>G	c.(1231-1233)Atc>Gtc	p.I411V		NM_004767.3	NP_004758.3	O60883	ETBR2_HUMAN	G protein-coupled receptor 37 like 1							integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)	18						CAAGGGCGCCATCACCCCAGT	0.647													31	41					0	0	1	0	0	G	202097469	A	G	202097469	3	3	219	1	0	0	0	0	1	0	0	0	6732	217	8	3	1237	3	GPR37L1	1	202097469	Missense_Mutation	SNP	A	TCGA-FG-A6J3-01A-11D-A31L-08	5067812	202097469	47153152	10	25823											
C2orf70	339778	broad.mit.edu	37	2	26798818	26798818	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr2:26798818C>T	ENST00000409392.1	+	3	187	c.85C>T	c.(85-87)Cgg>Tgg	p.R29W	C2orf70_ENST00000329615.3_Silent_p.Y41Y			A6NJV1	CB070_HUMAN	chromosome 2 open reading frame 70	147										breast(3)|endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	13						GCGCTCCCTACGGCACCACCA	0.627													16	48					0	0	1	0	0	T	26798818	C	T	26798818	3	4	219	1	0	0	0	0	1	0	0	0	2204	547	19	1	129	1	C2orf70	2	26798818	Missense_Mutation	SNP	C	TCGA-FG-A6J3-01A-11D-A31L-08		26798818	216400555	11	25824											
ANAPC1	64682	broad.mit.edu	37	2	112536312	112536312	+	Silent	SNP	G	G	C			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr2:112536312G>C	ENST00000341068.3	-	45	6097	c.5325C>G	c.(5323-5325)ctC>ctG	p.L1775L		NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	1775					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						CACATTCATAGAGTACTGAAG	0.373													11	61					0	0	1	0	0	C	112536312	G	C	112536312	2	2	219	1	0	0	0	0	0	0	0	1	594	929	33	4		4	ANAPC1	2	112536312	Silent	SNP	G	TCGA-FG-A6J3-01A-11D-A31L-08	85737494	112536312	130663061	12	25825											
LRP2	4036	broad.mit.edu	37	2	170068686	170068686	+	Missense_Mutation	SNP	G	G	T			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr2:170068686G>T	ENST00000263816.3	-	37	6357	c.6072C>A	c.(6070-6072)aaC>aaA	p.N2024K		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2024	EGF-like 8.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	CATTCATGTTGTTGCTACAGC	0.443													4	66					2.56e-06	3.10303e-06	1	1	0	T	170068686	G	T	170068686	3	4	219	1	0	0	0	0	1	0	0	0	9001	1368	48	5	8067	5	LRP2	2	170068686	Missense_Mutation	SNP	G	TCGA-FG-A6J3-01A-11D-A31L-08	57532374	170068686	73130687	13	25826											
TTN	7273	broad.mit.edu	37	2	179639178	179639178	+	Missense_Mutation	SNP	T	T	A			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr2:179639178T>A	ENST00000589042.1	-	30	7037	c.6813A>T	c.(6811-6813)aaA>aaT	p.K2271N	TTN_ENST00000360870.5_Missense_Mutation_p.K2271N|TTN-AS1_ENST00000584485.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.K2225N|TTN_ENST00000342992.6_Missense_Mutation_p.K2271N|TTN_ENST00000591111.1_Missense_Mutation_p.K2271N|TTN_ENST00000460472.2_Missense_Mutation_p.K2225N|TTN_ENST00000359218.5_Missense_Mutation_p.K2225N	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	1995	Ig-like 12.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCTGAAGTTCTTTCACAAACT	0.353													4	20					0	0	1	0	0	A	179639178	T	A	179639178	3	1	219	1	0	0	0	0	1	0	0	0	16797	1606	56	5	104507	5	TTN	2	179639178	Missense_Mutation	SNP	T	TCGA-FG-A6J3-01A-11D-A31L-08	9570492	179639178	63560195	14	25827											
NBEAL1	65065	broad.mit.edu	37	2	204013825	204013825	+	Missense_Mutation	SNP	G	G	C			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr2:204013825G>C	ENST00000449802.1	+	33	5662	c.5329G>C	c.(5329-5331)Gca>Cca	p.A1777P		NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1	1777							binding			NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						ACGCTGGAAAGCAATACAGCT	0.388													7	29					0	0	1	0	0	C	204013825	G	C	204013825	3	2	219	1	0	0	0	0	1	0	0	0	10236	971	34	4	5455	4	NBEAL1	2	204013825	Missense_Mutation	SNP	G	TCGA-FG-A6J3-01A-11D-A31L-08	24374647	204013825	39185548	15	25828											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								10	35					0	0	1	0	0	T	209113112	C	T	209113112	3	4	219	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-FG-A6J3-01A-11D-A31L-08	5099287	209113112	34086261	16	25829											
FN1	2335	broad.mit.edu	37	2	216292953	216292953	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr2:216292953C>T	ENST00000354785.4	-	6	1163	c.794G>A	c.(793-795)cGa>cAa	p.R265Q	FN1_ENST00000446046.1_Missense_Mutation_p.R265Q|FN1_ENST00000443816.1_Missense_Mutation_p.R265Q|FN1_ENST00000356005.4_Missense_Mutation_p.R265Q|FN1_ENST00000336916.4_Missense_Mutation_p.R265Q|FN1_ENST00000323926.6_Missense_Mutation_p.R265Q|FN1_ENST00000432072.2_Missense_Mutation_p.R265Q|FN1_ENST00000359671.1_Missense_Mutation_p.R265Q|FN1_ENST00000345488.5_Missense_Mutation_p.R265Q|FN1_ENST00000346544.3_Missense_Mutation_p.R265Q|FN1_ENST00000426059.1_Missense_Mutation_p.R265Q|FN1_ENST00000357009.2_Missense_Mutation_p.R265Q|FN1_ENST00000421182.1_Missense_Mutation_p.R265Q|FN1_ENST00000357867.4_Missense_Mutation_p.R265Q			P02751	FINC_HUMAN	fibronectin 1	265	Fibrin- and heparin-binding 1.|Fibronectin type-I 5.				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CCACTCTCCTCGGCCGTTGCC	0.552													3	54					0	0	1	0	0	T	216292953	C	T	216292953	3	4	219	1	0	0	0	0	1	0	0	0	5995	884	31	1	6836	1	FN1	2	216292953	Missense_Mutation	SNP	C	TCGA-FG-A6J3-01A-11D-A31L-08	7179841	216292953	26906420	17	25830											
TMEM43	79188	broad.mit.edu	37	3	14177320	14177320	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr3:14177320C>T	ENST00000306077.4	+	10	1048	c.794C>T	c.(793-795)gCc>gTc	p.A265V	RP11-434D12.1_ENST00000608606.1_Silent_p.C10C	NM_024334.2	NP_077310.1	Q9BTV4	TMM43_HUMAN	transmembrane protein 43	265						endoplasmic reticulum|Golgi apparatus|integral to membrane|nuclear inner membrane				breast(1)|cervix(3)|endometrium(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(2)	19						ACTGTGATTGCCCGGCAGCGG	0.632													4	82					0	0	1	0	0	T	14177320	C	T	14177320	3	4	219	1	0	0	0	0	1	0	0	0	16227	739	26	2	832	2	TMEM43	3	14177320	Missense_Mutation	SNP	C	TCGA-FG-A6J3-01A-11D-A31L-08		14177320	183845110	18	25831											
SETD2	29072	broad.mit.edu	37	3	47143009	47143009	+	Missense_Mutation	SNP	T	T	G			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr3:47143009T>G	ENST00000409792.3	-	8	4996	c.4954A>C	c.(4954-4956)Acc>Ccc	p.T1652P		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	1652	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		AGTTTGGTGGTAAAAAACCCA	0.398			"N, F, S, Mis"		clear cell renal carcinoma								42	142					0	0	1	0	0	G	47143009	T	G	47143009	3	3	219	1	0	0	0	0	1	0	0	0	14185	1638	57	5	2796	5	SETD2	3	47143009	Missense_Mutation	SNP	T	TCGA-FG-A6J3-01A-11D-A31L-08	32965689	47143009	150879421	19	25832											
CEP70	80321	broad.mit.edu	37	3	138290122	138290122	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr3:138290122C>T	ENST00000264982.3	-	4	412	c.146G>A	c.(145-147)aGa>aAa	p.R49K	CEP70_ENST00000481834.1_Missense_Mutation_p.R49K|CEP70_ENST00000464035.1_Missense_Mutation_p.R49K|CEP70_ENST00000542237.1_Missense_Mutation_p.R29K|CEP70_ENST00000489254.1_Intron|CEP70_ENST00000478673.1_5'UTR|CEP70_ENST00000484888.1_Missense_Mutation_p.R49K	NM_024491.2	NP_077817.2	Q8NHQ1	CEP70_HUMAN	centrosomal protein 70kDa	49					G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	24						GAGATCTGTTCTTTTGACTAG	0.303													6	22					0	0	1	0	0	T	138290122	C	T	138290122	3	4	219	1	0	0	0	0	1	0	0	0	3281	913	32	2	1707	2	CEP70	3	138290122	Missense_Mutation	SNP	C	TCGA-FG-A6J3-01A-11D-A31L-08	91147113	138290122	59732308	20	25833											
SYNPO2	171024	broad.mit.edu	37	4	119948345	119948345	+	Missense_Mutation	SNP	G	G	T			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr4:119948345G>T	ENST00000307142.4	+	3	1017	c.821G>T	c.(820-822)aGt>aTt	p.S274I	SYNPO2_ENST00000429713.2_Missense_Mutation_p.S274I|SYNPO2_ENST00000434046.2_Missense_Mutation_p.S274I|SYNPO2_ENST00000448416.2_Intron	NM_133477.2	NP_597734.2	Q9UMS6	SYNP2_HUMAN	synaptopodin 2	274						nucleus|Z disc	14-3-3 protein binding|actin binding|muscle alpha-actinin binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						ATCCAGGAAAGTGAAGCAGGA	0.522													8	20					1.06961e-07	1.32323e-07	1	1	0	T	119948345	G	T	119948345	3	4	219	1	0	0	0	0	1	0	0	0	15514	1029	36	4	831	4	SYNPO2	4	119948345	Missense_Mutation	SNP	G	TCGA-FG-A6J3-01A-11D-A31L-08		119948345	71205931	21	25834											
TMEM144	55314	broad.mit.edu	37	4	159138562	159138562	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr4:159138562G>A	ENST00000514558.1	+	4	2118	c.322G>A	c.(322-324)Gca>Aca	p.A108T	TMEM144_ENST00000296529.6_Missense_Mutation_p.A108T			Q7Z5S9	TM144_HUMAN	transmembrane protein 144	108						integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(7)|lung(9)|prostate(1)	19	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0539)		AACTGGCTGGGCAAGCTCAAG	0.383													3	31					0	0	1	0	0	A	159138562	G	A	159138562	3	1	219	1	0	0	0	0	1	0	0	0	16118	1203	42	2	332	2	TMEM144	4	159138562	Missense_Mutation	SNP	G	TCGA-FG-A6J3-01A-11D-A31L-08	39190217	159138562	32015714	22	25835											
IL7R	3575	broad.mit.edu	37	5	35871310	35871310	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr5:35871310T>C	ENST00000303115.3	+	4	661	c.532T>C	c.(532-534)Tgg>Cgg	p.W178R	IL7R_ENST00000506850.1_Missense_Mutation_p.W178R|IL7R_ENST00000343305.4_Missense_Mutation_p.W178R	NM_002185.3	NP_002176.2	P16871	IL7RA_HUMAN	interleukin 7 receptor	178	Fibronectin type-III.				immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			TGAAAACAAATGGACGGTATG	0.358			"Mis, O"		"ALL, ETP ALL"		Severe combined immune deficiency						8	9					0	0	1	0	0	C	35871310	T	C	35871310	3	2	219	1	0	0	0	0	1	0	0	0	7749	1464	51	3	546	3	IL7R	5	35871310	Missense_Mutation	SNP	T	TCGA-FG-A6J3-01A-11D-A31L-08		35871310	145043950	23	25836											
MCC	4163	broad.mit.edu	37	5	112406798	112406798	+	Missense_Mutation	SNP	G	G	C			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr5:112406798G>C	ENST00000302475.4	-	10	1911	c.1348C>G	c.(1348-1350)Cag>Gag	p.Q450E	MCC_ENST00000408903.3_Missense_Mutation_p.Q640E|MCC_ENST00000515367.2_Missense_Mutation_p.Q387E|MCC_ENST00000514701.3_5'UTR	NM_002387.2	NP_002378	P23508	CRCM_HUMAN	mutated in colorectal cancers	450					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane	protein binding|receptor activity			endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		TACCTGTACTGCAAGGCCAGC	0.478													28	58					0	0	1	0	0	C	112406798	G	C	112406798	3	2	219	1	0	0	0	0	1	0	0	0	9423	1328	46	5	1173	5	MCC	5	112406798	Missense_Mutation	SNP	G	TCGA-FG-A6J3-01A-11D-A31L-08	76535488	112406798	68508462	24	25837											
YTHDC2	64848	broad.mit.edu	37	5	112868625	112868625	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr5:112868625G>A	ENST00000161863.4	+	5	938	c.725G>A	c.(724-726)cGt>cAt	p.R242H	YTHDC2_ENST00000515883.1_Missense_Mutation_p.R242H	NM_022828.3	NP_073739.3	Q9H6S0	YTDC2_HUMAN	YTH domain containing 2	242	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|nucleic acid binding			NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)		ATCCCCTGCCGTATATTTTGT	0.388													5	43					0	0	1	0	0	A	112868625	G	A	112868625	3	1	219	1	0	0	0	0	1	0	0	0	17557	1145	40	1	743	1	YTHDC2	5	112868625	Missense_Mutation	SNP	G	TCGA-FG-A6J3-01A-11D-A31L-08	461827	112868625	68046635	25	25838											
SLC36A2	153201	broad.mit.edu	37	5	150714964	150714964	+	Silent	SNP	A	A	G			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr5:150714964A>G	ENST00000335244.4	-	6	799	c.670T>C	c.(670-672)Ttg>Ctg	p.L224L	SLC36A2_ENST00000521967.1_Silent_p.L224L	NM_181776.2	NP_861441.2	Q495M3	S36A2_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 2	224					cellular nitrogen compound metabolic process	cytoplasm|integral to membrane|plasma membrane	glycine transmembrane transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(14)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AAGATGGTCAAGATCCTGAGG	0.552													9	15					0	0	1	0	0	G	150714964	A	G	150714964	2	3	219	1	0	0	0	0	0	0	0	1	14649	69	3	3		3	SLC36A2	5	150714964	Silent	SNP	A	TCGA-FG-A6J3-01A-11D-A31L-08	37846339	150714964	30200296	26	25839											
DDX41	51428	broad.mit.edu	37	5	176938907	176938907	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr5:176938907C>T	ENST00000507955.1	-	17	2277	c.1754G>A	c.(1753-1755)tGc>tAc	p.C585Y		NM_016222.2	NP_057306.2	Q9UJV9	DDX41_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 41	585					apoptosis|multicellular organismal development	catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding|zinc ion binding					all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191)			CAGGCCCCCGCAGAAGGCACA	0.642													13	29					0	0	1	0	0	T	176938907	C	T	176938907	3	4	219	1	0	0	0	0	1	0	0	0	4384	710	25	2	118	2	DDX41	5	176938907	Missense_Mutation	SNP	C	TCGA-FG-A6J3-01A-11D-A31L-08	26223943	176938907	3976353	27	25840											
HLA-DRA	3122	broad.mit.edu	37	6	32410365	32410365	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr6:32410365C>T	ENST00000395388.2	+	2	332	c.223C>T	c.(223-225)Cga>Tga	p.R75*	HLA-DRA_ENST00000374982.5_Nonsense_Mutation_p.R75*	NM_019111.4	NP_061984.2	P01903	DRA_HUMAN	major histocompatibility complex, class II, DR alpha	75	Alpha-1.			R -> P (in Ref. 12; AA sequence).	antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|Golgi apparatus|integral to plasma membrane|late endosome membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity			NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	19						AGAATTTGGACGATTTGCCAG	0.468									T-cell Lymphoma, (Cutaneous) , Familial Clustering of;Kaposi Sarcoma, Familial Clustering of				28	165					0	0	1	0	0	T	32410365	C	T	32410365	4	4	219	1	0	0	0	0	0	1	0	0	7248	528	19	1	229	1	HLA-DRA	6	32410365	Nonsense_Mutation	SNP	C	TCGA-FG-A6J3-01A-11D-A31L-08		32410365	138704702	28	25841											
ITPR3	3710	broad.mit.edu	37	6	33625772	33625772	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr6:33625772G>A	ENST00000374316.5	+	5	1406	c.346G>A	c.(346-348)Gtg>Atg	p.V116M	ITPR3_ENST00000605930.1_Missense_Mutation_p.V116M			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	116	MIR 1.				activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						TGGGGATGTCGTGAAGTATGG	0.607													6	28					0	0	1	0	0	A	33625772	G	A	33625772	3	1	219	1	0	0	0	0	1	0	0	0	7966	1145	40	1	360	1	ITPR3	6	33625772	Missense_Mutation	SNP	G	TCGA-FG-A6J3-01A-11D-A31L-08	1215407	33625772	137489295	29	25842											
TINAG	27283	broad.mit.edu	37	6	54191661	54191661	+	Missense_Mutation	SNP	C	C	T	rs115438249	byFrequency	TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr6:54191661C>T	ENST00000259782.4	+	4	667	c.571C>T	c.(571-573)Cgc>Tgc	p.R191C	TINAG_ENST00000370864.3_Missense_Mutation_p.R173C|TINAG_ENST00000370869.3_Missense_Mutation_p.R187C	NM_014464.3	NP_055279.3	Q9UJW2	TINAG_HUMAN	tubulointerstitial nephritis antigen	191					cell adhesion|immune response|Malpighian tubule morphogenesis|proteolysis	basement membrane	cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity	p.R191C(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34	Lung NSC(77;0.0518)		LUSC - Lung squamous cell carcinoma(124;0.246)			TTTTAAATTTCGCCTTGGCAC	0.373													23	82					0	0	1	0	0	T	54191661	C	T	54191661	3	4	219	1	0	0	0	0	1	0	0	0	15981	884	31	1	585	1	TINAG	6	54191661	Missense_Mutation	SNP	C	TCGA-FG-A6J3-01A-11D-A31L-08	20565889	54191661	116923406	30	25843											
COL21A1	81578	broad.mit.edu	37	6	56006596	56006596	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr6:56006596C>T	ENST00000244728.5	-	12	1926	c.1529G>A	c.(1528-1530)cGa>cAa	p.R510Q	COL21A1_ENST00000535941.1_Missense_Mutation_p.R510Q|COL21A1_ENST00000370819.1_Missense_Mutation_p.R507Q	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	510					cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			GTCACCATCTCGCCCTGGTTC	0.368													35	30					0	0	1	0	0	T	56006596	C	T	56006596	3	4	219	1	0	0	0	0	1	0	0	0	3703	884	31	1	1420	1	COL21A1	6	56006596	Missense_Mutation	SNP	C	TCGA-FG-A6J3-01A-11D-A31L-08	1814935	56006596	115108471	31	25844											
ZBTB24	9841	broad.mit.edu	37	6	109787072	109787072	+	Silent	SNP	A	A	T			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr6:109787072A>T	ENST00000230122.3	-	7	2243	c.2076T>A	c.(2074-2076)ctT>ctA	p.L692L	MICAL1_ENST00000368952.4_5'UTR	NM_001164313.1|NM_014797.2	NP_001157785.1|NP_055612.2	O43167	ZBT24_HUMAN	zinc finger and BTB domain containing 24	692					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	22		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0154)|all cancers(137;0.0216)|OV - Ovarian serous cystadenocarcinoma(136;0.0242)|BRCA - Breast invasive adenocarcinoma(108;0.059)		GCTCCTGGCCAAGTGGCGTTG	0.537													35	38					0	0	1	0	0	T	109787072	A	T	109787072	2	4	219	1	0	0	0	0	0	0	0	1	17590	117	5	5		5	ZBTB24	6	109787072	Silent	SNP	A	TCGA-FG-A6J3-01A-11D-A31L-08	53780476	109787072	61327995	32	25845											
STAG3L2	442582	broad.mit.edu	37	7	74306348	74306349	+	RNA	INS	-	-	GCC			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr7:74306348_74306349insGCC	ENST00000423186.1	-	0	296							P0CL84	ST3L2_HUMAN								nucleus	binding			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)|pancreas(1)	5						GCCAGCACCCGGCCGCCGCGCG	0.752													4	4	---	---	---	---						GCC	74306349	-	GCC	74306348	6	5	219	0	1	1	1	0	0	0	0	0	15301	1131	39	0		0	STAG3L2	7	74306348	RNA	INS	-	TCGA-FG-A6J3-01A-11D-A31L-08		74306348	84832315	33	25846											
ADAM9	8754	broad.mit.edu	37	8	38934858	38934858	+	Silent	SNP	G	G	A			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr8:38934858G>A	ENST00000487273.2	+	16	1887	c.1809G>A	c.(1807-1809)gtG>gtA	p.V603V	ADAM9_ENST00000484143.1_3'UTR	NM_003816.2	NP_003807.1	Q13443	ADAM9_HUMAN	ADAM metallopeptidase domain 9	603	Cys-rich.				activation of MAPKK activity|cell-cell adhesion mediated by integrin|cell-matrix adhesion|keratinocyte differentiation|monocyte activation|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell adhesion mediated by integrin|positive regulation of keratinocyte migration|positive regulation of macrophage fusion|positive regulation of membrane protein ectodomain proteolysis|positive regulation of protein secretion|response to calcium ion|response to glucocorticoid stimulus|response to hydrogen peroxide|response to manganese ion|response to tumor necrosis factor|transforming growth factor beta receptor signaling pathway	extracellular space|integral to membrane|intrinsic to external side of plasma membrane	collagen binding|integrin binding|laminin binding|metalloendopeptidase activity|protein kinase C binding|SH3 domain binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.0153)	LUSC - Lung squamous cell carcinoma(45;2.74e-07)			GTTGGGGTGTGGATTTCCAGC	0.413													16	53					0	0	1	0	0	A	38934858	G	A	38934858	2	1	219	1	0	0	0	0	0	0	0	1	252	1335	47	2		2	ADAM9	8	38934858	Silent	SNP	G	TCGA-FG-A6J3-01A-11D-A31L-08		38934858	107429164	34	25847											
PKHD1L1	93035	broad.mit.edu	37	8	110418625	110418625	+	Silent	SNP	T	T	A			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr8:110418625T>A	ENST00000378402.5	+	17	1835	c.1731T>A	c.(1729-1731)tcT>tcA	p.S577S		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	577					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			ACCTCTGGTCTATAAAACCGG	0.363										HNSCC(38;0.096)			3	5					0	0	1	0	0	A	110418625	T	A	110418625	2	1	219	1	0	0	0	0	0	0	0	1	12020	1509	53	5		5	PKHD1L1	8	110418625	Silent	SNP	T	TCGA-FG-A6J3-01A-11D-A31L-08	71483767	110418625	35945397	35	25848											
PKHD1L1	93035	broad.mit.edu	37	8	110498956	110498956	+	Missense_Mutation	SNP	A	A	T			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr8:110498956A>T	ENST00000378402.5	+	59	9890	c.9786A>T	c.(9784-9786)aaA>aaT	p.K3262N		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	3262					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GGAACATCAAAATAGTTGGTG	0.448										HNSCC(38;0.096)			14	153					0	0	1	0	0	T	110498956	A	T	110498956	3	4	219	1	0	0	0	0	1	0	0	0	12020	11	1	5	10020	5	PKHD1L1	8	110498956	Missense_Mutation	SNP	A	TCGA-FG-A6J3-01A-11D-A31L-08	80331	110498956	35865066	36	25849											
KCNQ3	3786	broad.mit.edu	37	8	133198389	133198389	+	Silent	SNP	C	C	A			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr8:133198389C>A	ENST00000388996.4	-	2	846	c.426G>T	c.(424-426)ctG>ctT	p.L142L	KCNQ3_ENST00000519445.1_Silent_p.L142L|KCNQ3_ENST00000521134.1_Silent_p.L22L	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	142					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			TGAATGTGGTCAGGACAGCCA	0.483													6	31					3.59834e-05	4.15193e-05	1	1	0	A	133198389	C	A	133198389	2	1	219	1	0	0	0	0	0	0	0	1	8128	813	29	5		5	KCNQ3	8	133198389	Silent	SNP	C	TCGA-FG-A6J3-01A-11D-A31L-08	22699433	133198389	13165633	37	25850											
PTPDC1	138639	broad.mit.edu	37	9	96859752	96859752	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr9:96859752C>T	ENST00000375360.3	+	7	1082	c.742C>T	c.(742-744)Cgc>Tgc	p.R248C	PTPDC1_ENST00000288976.3_Missense_Mutation_p.R300C	NM_001253830.1|NM_177995.2	NP_001240759.1|NP_818931.1	A2A3K4	PTPC1_HUMAN	protein tyrosine phosphatase domain containing 1	248							protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	32						AACTCCTCTCCGCAATATATT	0.453													22	126					0	0	1	0	0	T	96859752	C	T	96859752	3	4	219	1	0	0	0	0	1	0	0	0	12823	652	23	1	1006	1	PTPDC1	9	96859752	Missense_Mutation	SNP	C	TCGA-FG-A6J3-01A-11D-A31L-08		96859752	44353679	38	25851											
CAMSAP1	157922	broad.mit.edu	37	9	138710933	138710933	+	Missense_Mutation	SNP	C	C	G			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr9:138710933C>G	ENST00000389532.4	-	12	3946	c.3882G>C	c.(3880-3882)caG>caC	p.Q1294H	CAMSAP1_ENST00000409386.3_Missense_Mutation_p.Q1305H|CAMSAP1_ENST00000312405.6_Missense_Mutation_p.Q1016H|CAMSAP1_ENST00000483991.1_5'UTR	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein 1	1294						cytoplasm|microtubule				breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		CCTTGCGCTGCTGCTTCAGGA	0.647													7	16					0	0	1	0	0	G	138710933	C	G	138710933	3	3	219	1	0	0	0	0	1	0	0	0	2629	796	28	4	950	4	CAMSAP1	9	138710933	Missense_Mutation	SNP	C	TCGA-FG-A6J3-01A-11D-A31L-08	41851181	138710933	2502498	39	25852											
KIAA1217	56243	broad.mit.edu	37	10	24508622	24508622	+	Silent	SNP	C	C	T			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr10:24508622C>T	ENST00000376454.3	+	2	168	c.138C>T	c.(136-138)cgC>cgT	p.R46R	KIAA1217_ENST00000376462.1_5'UTR|KIAA1217_ENST00000458595.1_Silent_p.R46R|KIAA1217_ENST00000376452.3_Silent_p.R46R	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217	46					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						CCAAGGAACGCCTTTCTAATG	0.463													8	31					0	0	1	0	0	T	24508622	C	T	24508622	2	4	219	1	0	0	0	0	0	0	0	1	8258	726	26	2		2	KIAA1217	10	24508622	Silent	SNP	C	TCGA-FG-A6J3-01A-11D-A31L-08		24508622	111026125	40	25853											
ANKRD30A	91074	broad.mit.edu	37	10	37508105	37508105	+	Missense_Mutation	SNP	A	A	T			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr10:37508105A>T	ENST00000374660.1	+	40	3753	c.3654A>T	c.(3652-3654)gaA>gaT	p.E1218D	ANKRD30A_ENST00000602533.1_Missense_Mutation_p.E1099D|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.E1099D			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	1170						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						TGAAAGAGGAATCATTAACTA	0.338													34	173					0	0	1	0	0	T	37508105	A	T	37508105	3	4	219	1	0	0	0	0	1	0	0	0	654	98	4	4	3431	4	ANKRD30A	10	37508105	Missense_Mutation	SNP	A	TCGA-FG-A6J3-01A-11D-A31L-08	12999483	37508105	98026642	41	25854											
ANKRD30A	91074	broad.mit.edu	37	10	37508389	37508389	+	Missense_Mutation	SNP	A	A	G			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr10:37508389A>G	ENST00000374660.1	+	40	4037	c.3938A>G	c.(3937-3939)cAt>cGt	p.H1313R	ANKRD30A_ENST00000602533.1_Missense_Mutation_p.H1194R|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.H1194R			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	1250						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						GAGGTGCTCCATCAACCACTT	0.358													7	30					0	0	1	0	0	G	37508389	A	G	37508389	3	3	219	1	0	0	0	0	1	0	0	0	654	217	8	3	3715	3	ANKRD30A	10	37508389	Missense_Mutation	SNP	A	TCGA-FG-A6J3-01A-11D-A31L-08	284	37508389	98026358	42	25855											
OGDHL	55753	broad.mit.edu	37	10	50950920	50950920	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr10:50950920T>C	ENST00000374103.4	-	15	2051	c.1966A>G	c.(1966-1968)Atc>Gtc	p.I656V	OGDHL_ENST00000432695.1_Missense_Mutation_p.I447V|OGDHL_ENST00000419399.1_Missense_Mutation_p.I599V	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	656					glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						CGCACGTGGATGCCTTCCTTC	0.642													4	35					0	0	1	0	0	C	50950920	T	C	50950920	3	2	219	1	0	0	0	0	1	0	0	0	10888	1464	51	3	1102	3	OGDHL	10	50950920	Missense_Mutation	SNP	T	TCGA-FG-A6J3-01A-11D-A31L-08	13442531	50950920	84583827	43	25856											
PLCE1	51196	broad.mit.edu	37	10	96018841	96018841	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr10:96018841G>A	ENST00000371380.3	+	12	3983	c.3748G>A	c.(3748-3750)Gag>Aag	p.E1250K	PLCE1_ENST00000371375.1_Missense_Mutation_p.E942K|PLCE1_ENST00000371385.3_Missense_Mutation_p.E942K|PLCE1_ENST00000260766.3_Missense_Mutation_p.E1250K			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1						activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity	p.E942*(1)|p.E1250*(1)		liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				ATCTGGCTCCGAGTCAGCCCC	0.483													21	77					0	0	1	0	0	A	96018841	G	A	96018841	3	1	219	1	0	0	0	0	1	0	0	0	12082	1059	37	1	4080	1	PLCE1	10	96018841	Missense_Mutation	SNP	G	TCGA-FG-A6J3-01A-11D-A31L-08	45067921	96018841	39515906	44	25857											
TACC2	10579	broad.mit.edu	37	10	123848117	123848117	+	Missense_Mutation	SNP	G	G	T			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr10:123848117G>T	ENST00000515273.1	+	5	5912	c.5584G>T	c.(5584-5586)Gat>Tat	p.D1862Y	TACC2_ENST00000334433.3_Intron|TACC2_ENST00000515603.1_Intron|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000369005.1_Intron|TACC2_ENST00000453444.2_Missense_Mutation_p.D1862Y			O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	1859						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				GTCAGCGAAAGATATTGGTCT	0.443													4	8					0.00024832	0.00027338	1	1	0	T	123848117	G	T	123848117	3	4	219	1	0	0	0	0	1	0	0	0	15559	957	33	4		4	TACC2	10	123848117	Missense_Mutation	SNP	G	TCGA-FG-A6J3-01A-11D-A31L-08	27829276	123848117	11686630	45	25858											
C10orf137	26098	broad.mit.edu	37	10	127434378	127434378	+	Missense_Mutation	SNP	A	A	G			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr10:127434378A>G	ENST00000337623.3	+	18	2696	c.2591A>G	c.(2590-2592)aAt>aGt	p.N864S	RP11-383C5.7_ENST00000594025.1_RNA|C10orf137_ENST00000356792.4_Missense_Mutation_p.N898S|RP11-383C5.7_ENST00000593871.1_RNA|RP11-383C5.7_ENST00000600784.1_RNA|RP11-383C5.7_ENST00000449436.1_RNA|RP11-383C5.7_ENST00000602030.1_RNA	NM_015608.2	NP_056423.2	Q3B7T1	EDRF1_HUMAN	chromosome 10 open reading frame 137	898					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(20)|ovary(8)|pancreas(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	61		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				GATGCCACCAATGCCGCCCTT	0.453													9	54					0	0	1	0	0	G	127434378	A	G	127434378	3	3	219	1	0	0	0	0	1	0	0	0	1598	101	4	3	2661	3	C10orf137	10	127434378	Missense_Mutation	SNP	A	TCGA-FG-A6J3-01A-11D-A31L-08	3586261	127434378	8100369	46	25859											
MUC2	4583	broad.mit.edu	37	11	1081657	1081657	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr11:1081657G>A	ENST00000441003.2	+	13	1612	c.1585G>A	c.(1585-1587)Ggg>Agg	p.G529R	MUC2_ENST00000359061.5_Missense_Mutation_p.G529R	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	529	VWFD 2.					inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	AGGCCTCTGCGGGAACTTCAA	0.667													3	18					0	0	1	0	0	A	1081657	G	A	1081657	3	1	219	1	0	0	0	0	1	0	0	0	10023	1116	39	1	1635	1	MUC2	11	1081657	Missense_Mutation	SNP	G	TCGA-FG-A6J3-01A-11D-A31L-08		1081657	133924859	47	25860											
OR51B5	282763	broad.mit.edu	37	11	5364717	5364717	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr11:5364717G>A	ENST00000300773.2	-	1	92	c.38C>T	c.(37-39)aCt>aTt	p.T13I	AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron	NM_001005567.2	NP_001005567.2	Q9H339	O51B5_HUMAN	olfactory receptor, family 51, subfamily B, member 5	13					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	28		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.05e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGGAAAACCAGTCAATAGGAA	0.443													6	21					0	0	1	0	0	A	5364717	G	A	5364717	3	1	219	1	0	0	0	0	1	0	0	0	11139	1029	36	2	904	2	OR51B5	11	5364717	Missense_Mutation	SNP	G	TCGA-FG-A6J3-01A-11D-A31L-08	4283060	5364717	129641799	48	25861											
RBMXL2	27288	broad.mit.edu	37	11	7111318	7111318	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr11:7111318C>T	ENST00000306904.5	+	1	1154	c.967C>T	c.(967-969)Cgc>Tgc	p.R323C		NM_014469.4	NP_055284.3	O75526	HNRGT_HUMAN	RNA binding motif protein, X-linked-like 2	323	Arg/Gly/Pro-rich.					nucleus|ribonucleoprotein complex	nucleotide binding|RNA binding			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15				Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CAGCGGCGGCCGCGACAGTTA	0.682													3	33					0	0	1	0	0	T	7111318	C	T	7111318	3	4	219	1	0	0	0	0	1	0	0	0	13206	652	23	1	969	1	RBMXL2	11	7111318	Missense_Mutation	SNP	C	TCGA-FG-A6J3-01A-11D-A31L-08	1746601	7111318	127895198	49	25862											
OR4A5	81318	broad.mit.edu	37	11	51412112	51412112	+	Missense_Mutation	SNP	C	C	A			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr11:51412112C>A	ENST00000319760.6	-	1	336	c.284G>T	c.(283-285)tGc>tTc	p.C95F		NM_001005272.3	NP_001005272.3	Q8NH83	OR4A5_HUMAN	olfactory receptor, family 4, subfamily A, member 5	95					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.C95S(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49		all_lung(304;0.236)				CTGGCCCATGCAACCTTGGAA	0.453													12	56					9.31168e-06	1.10634e-05	1	1	0	A	51412112	C	A	51412112	3	1	219	1	0	0	0	0	1	0	0	0	11091	710	25	5	667	5	OR4A5	11	51412112	Missense_Mutation	SNP	C	TCGA-FG-A6J3-01A-11D-A31L-08	44300794	51412112	83594404	50	25863											
CTNND1	1500	broad.mit.edu	37	11	57563185	57563185	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr11:57563185G>A	ENST00000524630.1	+	5	917	c.404G>A	c.(403-405)cGg>cAg	p.R135Q	CTNND1_ENST00000532787.1_Missense_Mutation_p.R34Q|CTNND1_ENST00000358694.6_Missense_Mutation_p.R135Q|CTNND1_ENST00000528621.1_Missense_Mutation_p.R81Q|CTNND1_ENST00000399039.4_Missense_Mutation_p.R135Q|CTNND1_ENST00000533667.1_Intron|CTNND1_ENST00000530094.1_Missense_Mutation_p.R34Q|CTNND1_ENST00000526772.1_Intron|CTNND1_ENST00000532245.1_Missense_Mutation_p.R34Q|CTNND1_ENST00000532844.1_Missense_Mutation_p.R81Q|CTNND1_ENST00000528232.1_Missense_Mutation_p.R34Q|CTNND1_ENST00000399050.4_Missense_Mutation_p.R135Q|CTNND1_ENST00000532463.1_Missense_Mutation_p.R34Q|CTNND1_ENST00000361796.4_Missense_Mutation_p.R135Q|CTNND1_ENST00000428599.2_Missense_Mutation_p.R135Q|CTNND1_ENST00000529526.1_Missense_Mutation_p.R81Q|CTNND1_ENST00000526938.1_Missense_Mutation_p.R135Q|CTNND1_ENST00000531014.1_Intron|CTNND1_ENST00000529873.1_Missense_Mutation_p.R81Q|CTNND1_ENST00000361332.4_Missense_Mutation_p.R135Q|CTNND1_ENST00000529986.1_Missense_Mutation_p.R34Q|CTNND1_ENST00000530748.1_Missense_Mutation_p.R81Q|CTNND1_ENST00000527467.1_Intron|CTNND1_ENST00000529919.1_Missense_Mutation_p.R135Q|CTNND1_ENST00000532649.1_Missense_Mutation_p.R81Q|CTNND1_ENST00000525902.1_Intron|CTNND1_ENST00000526357.1_Missense_Mutation_p.R81Q|CTNND1_ENST00000361391.6_Missense_Mutation_p.R135Q|CTNND1_ENST00000415361.2_Missense_Mutation_p.R34Q|CTNND1_ENST00000360682.6_Missense_Mutation_p.R135Q|CTNND1_ENST00000534579.1_Missense_Mutation_p.R81Q|CTNND1_ENST00000426142.2_Missense_Mutation_p.R34Q			O60716	CTND1_HUMAN	catenin (cadherin-associated protein), delta 1	135					adherens junction organization|cell junction assembly|negative regulation of canonical Wnt receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	cytosol|midbody|nucleus	cadherin binding|protein binding|receptor binding			breast(5)|endometrium(8)|kidney(4)|large_intestine(7)|liver(2)|lung(16)|ovary(1)|upper_aerodigestive_tract(2)	45		all_epithelial(135;0.155)				GGGACCACTCGGCGCACAGAG	0.507													5	18					0	0	1	0	0	A	57563185	G	A	57563185	3	1	219	1	0	0	0	0	1	0	0	0	4043	1116	39	1	414	1	CTNND1	11	57563185	Missense_Mutation	SNP	G	TCGA-FG-A6J3-01A-11D-A31L-08	6151073	57563185	77443331	51	25864											
RTN3	10313	broad.mit.edu	37	11	63487398	63487398	+	Missense_Mutation	SNP	A	A	G			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr11:63487398A>G	ENST00000377819.5	+	3	1578	c.1424A>G	c.(1423-1425)gAc>gGc	p.D475G	RTN3_ENST00000540798.1_Missense_Mutation_p.D363G|RTN3_ENST00000537981.1_Intron|RTN3_ENST00000354497.4_Intron|RTN3_ENST00000339997.4_Missense_Mutation_p.D456G|RTN3_ENST00000341307.2_Intron|RTN3_ENST00000356000.3_Intron	NM_001265589.1	NP_001252518.1	O95197	RTN3_HUMAN	reticulon 3	475					apoptosis|endoplasmic reticulum tubular network organization|interspecies interaction between organisms|response to stress|vesicle-mediated transport	endoplasmic reticulum membrane|extracellular space|Golgi membrane|integral to membrane				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	20						TTACCTGATGACCACCTGAAA	0.458													22	43					0	0	1	0	0	G	63487398	A	G	63487398	3	3	219	1	0	0	0	0	1	0	0	0	13779	275	10	3	1434	3	RTN3	11	63487398	Missense_Mutation	SNP	A	TCGA-FG-A6J3-01A-11D-A31L-08	5924213	63487398	71519118	52	25865											
FGF6	2251	broad.mit.edu	37	12	4543495	4543495	+	Silent	SNP	G	G	A			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr12:4543495G>A	ENST00000228837.2	-	3	556	c.513C>T	c.(511-513)taC>taT	p.Y171Y		NM_020996.1	NP_066276.2	P10767	FGF6_HUMAN	fibroblast growth factor 6	171					angiogenesis|cell proliferation|cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell division|positive regulation of cell proliferation	extracellular space	growth factor activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)			AGTCTGACTCGTAGGCATTGT	0.517													34	407					0	0	1	0	0	A	4543495	G	A	4543495	2	1	219	1	0	0	0	0	0	0	0	1	5889	1140	40	1		1	FGF6	12	4543495	Silent	SNP	G	TCGA-FG-A6J3-01A-11D-A31L-08		4543495	129308400	53	25866											
CD163L1	283316	broad.mit.edu	37	12	7521536	7521536	+	Silent	SNP	G	G	T			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr12:7521536G>T	ENST00000313599.3	-	16	4122	c.4065C>A	c.(4063-4065)gcC>gcA	p.A1355A	CD163L1_ENST00000416109.2_Silent_p.A1365A|CD163L1_ENST00000396630.1_Silent_p.A1355A			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	1355						extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						TACCTGAGGAGGCATTCAGTG	0.443													5	169					0.217242	0.219068	1	1	0	T	7521536	G	T	7521536	2	4	219	1	0	0	0	0	0	0	0	1	2990	987	35	4		4	CD163L1	12	7521536	Silent	SNP	G	TCGA-FG-A6J3-01A-11D-A31L-08	2978041	7521536	126330359	54	25867											
A2M	2	broad.mit.edu	37	12	9243855	9243855	+	Missense_Mutation	SNP	C	C	G	rs117138141	by1000genomes	TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr12:9243855C>G	ENST00000318602.7	-	19	2718	c.2411G>C	c.(2410-2412)cGt>cCt	p.R804P		NM_000014.4	NP_000005	P01023	A2MG_HUMAN	alpha-2-macroglobulin	804					blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)	GGCCTCTCCACGAATCACAGA	0.493													97	159					0	0	1	0	0	G	9243855	C	G	9243855	3	3	219	1	0	0	0	0	1	0	0	0	4	536	19	5	2085	5	A2M	12	9243855	Missense_Mutation	SNP	C	TCGA-FG-A6J3-01A-11D-A31L-08	1722319	9243855	124608040	55	25868											
TBC1D4	9882	broad.mit.edu	37	13	75884224	75884224	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr13:75884224G>A	ENST00000377636.3	-	14	2793	c.2447C>T	c.(2446-2448)cCg>cTg	p.P816L	TBC1D4_ENST00000431480.2_Missense_Mutation_p.P808L|TBC1D4_ENST00000377625.2_Missense_Mutation_p.P753L|TBC1D4_ENST00000425511.1_Missense_Mutation_p.P33L	NM_014832.2	NP_055647.2	O60343	TBCD4_HUMAN	TBC1 domain family, member 4	816						cytoplasm	Rab GTPase activator activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		TACAACCAGCGGTTCCTCCTC	0.488													11	14					0	0	1	0	0	A	75884224	G	A	75884224	3	1	219	1	0	0	0	0	1	0	0	0	15682	1116	39	1	1481	1	TBC1D4	13	75884224	Missense_Mutation	SNP	G	TCGA-FG-A6J3-01A-11D-A31L-08		75884224	39285654	56	25869											
RYR3	6263	broad.mit.edu	37	15	33955020	33955020	+	Silent	SNP	G	G	A			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr15:33955020G>A	ENST00000389232.4	+	35	5359	c.5289G>A	c.(5287-5289)gaG>gaA	p.E1763E	RYR3_ENST00000415757.3_Silent_p.E1763E	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1763	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CGGGGACAGAGGAGGGAGCAG	0.572													35	96					0	0	1	0	0	A	33955020	G	A	33955020	2	1	219	1	0	0	0	0	0	0	0	1	13822	991	35	2		2	RYR3	15	33955020	Silent	SNP	G	TCGA-FG-A6J3-01A-11D-A31L-08		33955020	68576372	57	25870											
LRRK1	79705	broad.mit.edu	37	15	101528904	101528904	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr15:101528904G>A	ENST00000284395.5	+	6	890	c.490G>A	c.(490-492)Ggg>Agg	p.G164R	LRRK1_ENST00000388948.3_Missense_Mutation_p.G167R|LRRK1_ENST00000532029.2_Missense_Mutation_p.G167R			Q38SD2	LRRK1_HUMAN	leucine-rich repeat kinase 1	167					small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			AGGGCACCTGGGGGTTGTGAA	0.622													20	60					0	0	1	0	0	A	101528904	G	A	101528904	3	1	219	1	0	0	0	0	1	0	0	0	9077	1232	43	2	513	2	LRRK1	15	101528904	Missense_Mutation	SNP	G	TCGA-FG-A6J3-01A-11D-A31L-08	67573884	101528904	1002488	58	25871											
ZSCAN10	84891	broad.mit.edu	37	16	3139706	3139706	+	Missense_Mutation	SNP	G	G	C			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr16:3139706G>C	ENST00000252463.2	-	5	1651	c.1564C>G	c.(1564-1566)Ccc>Gcc	p.P522A	ZSCAN10_ENST00000575108.1_Missense_Mutation_p.P183A|ZSCAN10_ENST00000538082.2_Missense_Mutation_p.P440A	NM_032805.1	NP_116194.1	Q96SZ4	ZSC10_HUMAN	zinc finger and SCAN domain containing 10	522					negative regulation of transcription, DNA-dependent|viral reproduction	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(3)|endometrium(3)|kidney(1)|lung(8)|ovary(2)|prostate(1)|skin(4)|urinary_tract(1)	24						CAGGCGTAGGGCTTCTCGCCC	0.716													4	11					0	0	1	0	0	C	3139706	G	C	3139706	3	2	219	1	0	0	0	0	1	0	0	0	18269	1203	42	5	617	5	ZSCAN10	16	3139706	Missense_Mutation	SNP	G	TCGA-FG-A6J3-01A-11D-A31L-08		3139706	87215047	59	25872			1	22		2	2	26	G		7.590954e-05
ZSCAN10	84891	broad.mit.edu	37	16	3139731	3139731	+	Missense_Mutation	SNP	G	G	C			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr16:3139731G>C	ENST00000252463.2	-	5	1626	c.1539C>G	c.(1537-1539)caC>caG	p.H513Q	ZSCAN10_ENST00000575108.1_Missense_Mutation_p.H174Q|ZSCAN10_ENST00000538082.2_Missense_Mutation_p.H431Q	NM_032805.1	NP_116194.1	Q96SZ4	ZSC10_HUMAN	zinc finger and SCAN domain containing 10	513					negative regulation of transcription, DNA-dependent|viral reproduction	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(3)|endometrium(3)|kidney(1)|lung(8)|ovary(2)|prostate(1)|skin(4)|urinary_tract(1)	24						GCACCCGTTGGTGGCTGACCA	0.711													3	15					0	0	1	0	0	C	3139731	G	C	3139731	3	2	219	1	0	0	0	0	1	0	0	0	18269	1252	44	5	642	5	ZSCAN10	16	3139731	Missense_Mutation	SNP	G	TCGA-FG-A6J3-01A-11D-A31L-08	25	3139731	87215022	60	25873			1	22		2	2	26	G		7.590954e-05
ZP2	7783	broad.mit.edu	37	16	21218255	21218255	+	Silent	SNP	G	G	A			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr16:21218255G>A	ENST00000574002.1	-	6	869	c.387C>T	c.(385-387)caC>caT	p.H129H	ZP2_ENST00000219593.4_Silent_p.H129H|ZP2_ENST00000574091.1_Silent_p.H129H			Q05996	ZP2_HUMAN	zona pellucida glycoprotein 2 (sperm receptor)	129					binding of sperm to zona pellucida|intracellular protein transport	endoplasmic reticulum|Golgi apparatus|integral to membrane|multivesicular body|plasma membrane|proteinaceous extracellular matrix|stored secretory granule	acrosin binding|coreceptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(16)|ovary(1)|prostate(1)|stomach(1)	41				GBM - Glioblastoma multiforme(48;0.0573)		TGACAGCTCCGTGTCTTAAGG	0.478													49	79					0	0	1	0	0	A	21218255	G	A	21218255	2	1	219	1	0	0	0	0	0	0	0	1	18258	1136	40	1		1	ZP2	16	21218255	Silent	SNP	G	TCGA-FG-A6J3-01A-11D-A31L-08	18078524	21218255	69136498	61	25874											
CHP2	63928	broad.mit.edu	37	16	23768869	23768869	+	Missense_Mutation	SNP	G	G	T	rs149498782	byFrequency	TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr16:23768869G>T	ENST00000300113.2	+	7	979	c.556G>T	c.(556-558)Gtt>Ttt	p.V186F		NM_022097.2	NP_071380.1	O43745	CHP2_HUMAN	calcineurin-like EF-hand protein 2	186	EF-hand 4.						calcium ion binding			central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|stomach(1)	9				GBM - Glioblastoma multiforme(48;0.0144)		GAAGATGGACGTTGAGCAAAA	0.522													33	163					9.8876e-21	1.28969e-20	1	1	0	T	23768869	G	T	23768869	3	4	219	1	0	0	0	0	1	0	0	0	3389	1145	40	5	582	5	CHP2	16	23768869	Missense_Mutation	SNP	G	TCGA-FG-A6J3-01A-11D-A31L-08	2550614	23768869	66585884	62	25875											
DNAJA2	10294	broad.mit.edu	37	16	47001550	47001550	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr16:47001550C>T	ENST00000317089.5	-	5	667	c.452G>A	c.(451-453)gGa>gAa	p.G151E		NM_005880.3	NP_005871.1	O60884	DNJA2_HUMAN	DnaJ (Hsp40) homolog, subfamily A, member 2	151					positive regulation of cell proliferation|protein folding|response to heat	membrane	ATP binding|heat shock protein binding|metal ion binding|unfolded protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|upper_aerodigestive_tract(1)	14		all_cancers(37;0.00125)|all_lung(18;0.00338)|all_epithelial(9;0.00358)|Lung NSC(13;0.0309)|Breast(268;0.116)				TCCAGACTTTCCGCCTTGGCT	0.463													32	113					0	0	1	0	0	T	47001550	C	T	47001550	3	4	219	1	0	0	0	0	1	0	0	0	4639	855	30	2	806	2	DNAJA2	16	47001550	Missense_Mutation	SNP	C	TCGA-FG-A6J3-01A-11D-A31L-08	23232681	47001550	43353203	63	25876											
KCNG4	93107	broad.mit.edu	37	16	84270341	84270341	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr16:84270341C>T	ENST00000568181.1	-	2	871	c.751G>A	c.(751-753)Gac>Aac	p.D251N	KCNG4_ENST00000308251.4_Missense_Mutation_p.D251N			Q8TDN1	KCNG4_HUMAN	potassium voltage-gated channel, subfamily G, member 4	251						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	31						CTCACCTGGTCCTCCTCTGCC	0.607													9	41					0	0	1	0	0	T	84270341	C	T	84270341	3	4	219	1	0	0	0	0	1	0	0	0	8074	855	30	2	814	2	KCNG4	16	84270341	Missense_Mutation	SNP	C	TCGA-FG-A6J3-01A-11D-A31L-08	37268791	84270341	6084412	64	25877											
FAM57A	79850	broad.mit.edu	37	17	641276	641276	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr17:641276C>T	ENST00000308278.8	+	3	633	c.397C>T	c.(397-399)Cca>Tca	p.P133S	FAM57A_ENST00000301324.8_Missense_Mutation_p.P133S|FAM57A_ENST00000572018.1_Intron	NM_024792.1	NP_079068.1	Q8TBR7	FA57A_HUMAN	family with sequence similarity 57, member A	133	TLC.					integral to membrane|plasma membrane				cervix(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(2)|urinary_tract(2)	10				UCEC - Uterine corpus endometrioid carcinoma (25;0.0217)		TGTCCTTGTGCCAGTCGCACA	0.517													4	79					0	0	1	0	0	T	641276	C	T	641276	3	4	219	1	0	0	0	0	1	0	0	0	5623	739	26	2	407	2	FAM57A	17	641276	Missense_Mutation	SNP	C	TCGA-FG-A6J3-01A-11D-A31L-08		641276	80553934	65	25878											
SMYD4	114826	broad.mit.edu	37	17	1715303	1715303	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr17:1715303C>A	ENST00000305513.7	-	3	408	c.241G>T	c.(241-243)Gag>Tag	p.E81*		NM_052928.2	NP_443160.2	Q8IYR2	SMYD4_HUMAN	SET and MYND domain containing 4	81							zinc ion binding			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(5)|stomach(1)	21						TAATCTTTCTCCTGAAATTTT	0.393													28	132					3.73808e-20	4.82333e-20	1	1	0	A	1715303	C	A	1715303	4	1	219	1	0	0	0	0	0	1	0	0	14878	864	30	5	2209	5	SMYD4	17	1715303	Nonsense_Mutation	SNP	C	TCGA-FG-A6J3-01A-11D-A31L-08	1074027	1715303	79479907	66	25879											
TP53	7157	broad.mit.edu	37	17	7577558	7577566	+	In_Frame_Del	DEL	GGAACTGTT	GGAACTGTT	-	rs28934573		TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr17:7577558_7577566delGGAACTGTT	ENST00000420246.2	-	7	847_855	c.715_723delAACAGTTCC	c.(715-723)aacagttccdel	p.NSS239del	TP53_ENST00000455263.2_In_Frame_Del_p.NSS239del|TP53_ENST00000413465.2_In_Frame_Del_p.NSS239del|TP53_ENST00000269305.4_In_Frame_Del_p.NSS239del|TP53_ENST00000445888.2_In_Frame_Del_p.NSS239del|TP53_ENST00000359597.4_In_Frame_Del_p.NSS239del	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	239	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).		N -> D (in sporadic cancers; somatic mutation).|N -> H (in a sporadic cancer; somatic mutation).|N -> I (in a sporadic cancer; somatic mutation).|N -> K (in sporadic cancers; somatic mutation).|N -> S (in sporadic cancers; somatic mutation).|N -> T (in sporadic cancers; somatic mutation).|N -> Y (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.S241F(85)|p.N239D(33)|p.N239S(28)|p.S241C(26)|p.C242fs*5(15)|p.N239fs*25(14)|p.S240G(14)|p.S241fs*6(9)|p.S241A(8)|p.S240R(8)|p.0?(8)|p.S241T(8)|p.S241Y(8)|p.N239K(7)|p.N239Y(6)|p.S240I(6)|p.N239fs*1(5)|p.S241del(5)|p.?(5)|p.S148F(4)|p.N239T(4)|p.M237_N239delMCN(4)|p.N146S(3)|p.N239_C242delNSSC(3)|p.S240C(3)|p.S241S(3)|p.S241P(3)|p.N239_S240insX(2)|p.N239fs*8(2)|p.S240S(2)|p.S240T(2)|p.S240fs*7(2)|p.N239_S240delNS(2)|p.S241fs*22(2)|p.S148T(1)|p.C242fs*20(1)|p.C242fs*23(1)|p.N146D(1)|p.N239fs*26(1)|p.Y236_M243delYMCNSSCM(1)|p.V225fs*23(1)|p.N239fs*6(1)|p.S148C(1)|p.N239fs*4(1)|p.S240>CSC(1)|p.C238_M246delCNSSCMGGM(1)|p.S240P(1)|p.S241_C242insX(1)|p.S240fs*23(1)|p.M144_N146delMCN(1)|p.C238fs*21(1)|p.N239I(1)|p.N239N(1)|p.H233fs*6(1)|p.S241fs*7(1)|p.N239fs*>48(1)|p.S240fs*26(1)|p.N239*(1)|p.H233_C242del10(1)|p.N239_C242>S(1)|p.S241fs*23(1)|p.N146fs*>10(1)|p.S241_G245delSCMGG(1)|p.N239_S240insN(1)|p.N146fs*1(1)|p.C238_N239insX(1)|p.N239_C242del(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)		CGCCCATGCAGGAACTGTTACACATGTAG	0.574		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)			25	14	---	---	---	---						-	7577566	GGAACTGTT	-	7577558	7	5	219	1	0	1	0	1	0	0	0	0	16442	987	35	0	567	0	TP53	17	7577558	In_Frame_Del	DEL	GGAACTGTT	TCGA-FG-A6J3-01A-11D-A31L-08	5862255	7577558	73617652	67	25880											
MYH8	4626	broad.mit.edu	37	17	10295902	10295902	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr17:10295902C>T	ENST00000403437.2	-	38	5619	c.5525G>A	c.(5524-5526)gGt>gAt	p.G1842D	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1842					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						TTTCCGTAAACCTTTAACAGC	0.443									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				5	194					0	0	1	0	0	T	10295902	C	T	10295902	3	4	219	1	0	0	0	0	1	0	0	0	10089	507	18	2	300	2	MYH8	17	10295902	Missense_Mutation	SNP	C	TCGA-FG-A6J3-01A-11D-A31L-08	2718344	10295902	70899308	68	25881											
ACACA	31	broad.mit.edu	37	17	35454875	35454875	+	Nonsense_Mutation	SNP	T	T	A			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr17:35454875T>A	ENST00000353139.5	-	53	7091	c.6610A>T	c.(6610-6612)Aag>Tag	p.K2204*	ACACA_ENST00000335166.5_Nonsense_Mutation_p.K2089*|ACACA_ENST00000394406.2_Nonsense_Mutation_p.K2167*|ACACA_ENST00000361253.5_Nonsense_Mutation_p.K293*|ACACA_ENST00000360679.3_Nonsense_Mutation_p.K2109*	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	2167					acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	TCCTTCAACTTGTTCTCCAAC	0.522													21	101					0	0	1	0	0	A	35454875	T	A	35454875	4	1	219	1	0	0	0	0	0	1	0	0	106	1821	63	5	557	5	ACACA	17	35454875	Nonsense_Mutation	SNP	T	TCGA-FG-A6J3-01A-11D-A31L-08	25158973	35454875	45740335	69	25882											
KRT36	8689	broad.mit.edu	37	17	39643881	39643881	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr17:39643881C>T	ENST00000393986.2	-	5	870	c.658G>A	c.(658-660)Gag>Aag	p.E220K	KRT36_ENST00000328119.6_Missense_Mutation_p.E270K			O76013	KRT36_HUMAN	keratin 36	270	Coil 1B.|Rod.					intermediate filament	protein binding|structural constituent of epidermis			breast(2)|cervix(1)|kidney(2)|large_intestine(3)|lung(8)|skin(1)	17		Breast(137;0.000286)				ACCAGGGCCTCGTACTGGCAT	0.602													34	105					0	0	1	0	0	T	39643881	C	T	39643881	3	4	219	1	0	0	0	0	1	0	0	0	8516	893	31	1	611	1	KRT36	17	39643881	Missense_Mutation	SNP	C	TCGA-FG-A6J3-01A-11D-A31L-08	4189006	39643881	41551329	70	25883											
KRT19	3880	broad.mit.edu	37	17	39684190	39684190	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr17:39684190C>T	ENST00000361566.3	-	1	370	c.310G>A	c.(310-312)Gcc>Acc	p.A104T		NM_002276.4	NP_002267.2			keratin 19											breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)	12		Breast(137;0.00038)				TCGCCGTTGGCCGCCTCCAGG	0.657													4	109					0	0	1	0	0	T	39684190	C	T	39684190	3	4	219	1	0	0	0	0	1	0	0	0	8499	739	26	2	916	2	KRT19	17	39684190	Missense_Mutation	SNP	C	TCGA-FG-A6J3-01A-11D-A31L-08	40309	39684190	41511020	71	25884											
STAT5B	6777	broad.mit.edu	37	17	40369407	40369407	+	Silent	SNP	G	G	A			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr17:40369407G>A	ENST00000293328.3	-	10	1413	c.1245C>T	c.(1243-1245)caC>caT	p.H415H		NM_012448.3	NP_036580.2	P51692	STA5B_HUMAN	signal transducer and activator of transcription 5B	415					2-oxoglutarate metabolic process|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|JAK-STAT cascade involved in growth hormone signaling pathway|oxaloacetate metabolic process|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cytosol|nucleoplasm	calcium ion binding|glucocorticoid receptor binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_cancers(22;4.15e-07)|all_epithelial(22;2.83e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.135)	Dasatinib(DB01254)	TATTCCTGAAGTGGGCACTAA	0.458													14	56					0	0	1	0	0	A	40369407	G	A	40369407	2	1	219	1	0	0	0	0	0	0	0	1	15325	1020	36	2		2	STAT5B	17	40369407	Silent	SNP	G	TCGA-FG-A6J3-01A-11D-A31L-08	685217	40369407	40825803	72	25885											
DSG3	1830	broad.mit.edu	37	18	29054364	29054364	+	Silent	SNP	T	T	C			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr18:29054364T>C	ENST00000257189.4	+	15	2465	c.2382T>C	c.(2380-2382)tcT>tcC	p.S794S		NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3	794					cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding	p.S794S(1)		breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			CCTACTTTTCTCAGGTAATTT	0.368													51	46					0	0	1	0	0	C	29054364	T	C	29054364	2	2	219	1	0	0	0	0	0	0	0	1	4804	1538	54	3		3	DSG3	18	29054364	Silent	SNP	T	TCGA-FG-A6J3-01A-11D-A31L-08		29054364	49022884	73	25886											
SERPINB4	6318	broad.mit.edu	37	18	61309104	61309104	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr18:61309104C>T	ENST00000341074.5	-	4	356	c.241G>A	c.(241-243)Gtt>Att	p.V81I	SERPINB4_ENST00000356424.6_Missense_Mutation_p.V81I	NM_002974.2	NP_002965.1			serpin peptidase inhibitor, clade B (ovalbumin), member 4											breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	42						TGGTGATGAACATTTCCTGAC	0.388													6	82					0	0	1	0	0	T	61309104	C	T	61309104	3	4	219	1	0	0	0	0	1	0	0	0	14157	478	17	2	951	2	SERPINB4	18	61309104	Missense_Mutation	SNP	C	TCGA-FG-A6J3-01A-11D-A31L-08	32254740	61309104	16768144	74	25887											
SERPINB8	5271	broad.mit.edu	37	18	61654342	61654342	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr18:61654342G>A	ENST00000397985.2	+	7	1211	c.955G>A	c.(955-957)Gtg>Atg	p.V319M	SERPINB8_ENST00000353706.2_Missense_Mutation_p.V319M|SERPINB8_ENST00000493661.1_Intron|SERPINB8_ENST00000542677.1_Missense_Mutation_p.V137M	NM_001276490.1	NP_001263419.1	P50452	SPB8_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 8	319					regulation of proteolysis	cytosol	protein binding|serine-type endopeptidase inhibitor activity			breast(2)|kidney(1)|large_intestine(4)|lung(9)|skin(1)	17		Esophageal squamous(42;0.129)				CAAGTGCTTCGTGGAGGTCAA	0.527													7	34					0	0	1	0	0	A	61654342	G	A	61654342	3	1	219	1	0	0	0	0	1	0	0	0	14161	1145	40	1	990	1	SERPINB8	18	61654342	Missense_Mutation	SNP	G	TCGA-FG-A6J3-01A-11D-A31L-08	345238	61654342	16422906	75	25888											
ANKRD24	170961	broad.mit.edu	37	19	4199916	4199916	+	Frame_Shift_Del	DEL	G	G	-			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr19:4199916delG	ENST00000600132.1	+	4	444	c.168delG	c.(166-168)gtgfs	p.V56fs	ANKRD24_ENST00000318934.4_Frame_Shift_Del_p.V56fs|ANKRD24_ENST00000262970.5_Frame_Shift_Del_p.V146fs	NM_133475.1	NP_597732.1	Q8TF21	ANR24_HUMAN	ankyrin repeat domain 24	56										endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	21				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181)		TACAAGCCGTGGAAAACAACG	0.662													2	4	---	---	---	---						-	4199916	G	-	4199916	7	5	219	1	0	1	0	1	0	0	0	0	649	1335	47	0	178	0	ANKRD24	19	4199916	Frame_Shift_Del	DEL	G	TCGA-FG-A6J3-01A-11D-A31L-08		4199916	54929067	76	25889											
CALR3	125972	broad.mit.edu	37	19	16594777	16594777	+	Silent	SNP	C	C	T			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr19:16594777C>T	ENST00000269881.3	-	5	704	c.642G>A	c.(640-642)tcG>tcA	p.S214S	CTD-3222D19.2_ENST00000409035.1_Intron|CALR3_ENST00000602234.1_5'UTR	NM_145046.4	NP_659483.2	Q96L12	CALR3_HUMAN	calreticulin 3	214	4 X approximate repeats.|P-domain.				protein folding	endoplasmic reticulum lumen	calcium ion binding|sugar binding|unfolded protein binding			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|prostate(1)|skin(1)	15						CCCAATCCTTCGATTCTGCCG	0.423													7	31					0	0	1	0	0	T	16594777	C	T	16594777	2	4	219	1	0	0	0	0	0	0	0	1	2611	871	31	1		1	CALR3	19	16594777	Silent	SNP	C	TCGA-FG-A6J3-01A-11D-A31L-08	12394861	16594777	42534206	77	25890											
UPF1	5976	broad.mit.edu	37	19	18963850	18963850	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr19:18963850G>A	ENST00000262803.5	+	7	1299	c.1027G>A	c.(1027-1029)Gcc>Acc	p.A343T	UPF1_ENST00000599848.1_Missense_Mutation_p.A343T	NM_002911.3	NP_002902.2	Q92900	RENT1_HUMAN	UPF1 regulator of nonsense transcripts homolog (yeast)	343	Sufficient for interaction with RENT2.				cell cycle|DNA repair|DNA replication|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination	chromatin|cytoplasmic mRNA processing body|exon-exon junction complex	ATP binding|ATP-dependent RNA helicase activity|chromatin binding|DNA binding|protein binding|RNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						GAAGAGAATCGCCTACTTCAC	0.423													14	93					0	0	1	0	0	A	18963850	G	A	18963850	3	1	219	1	0	0	0	0	1	0	0	0	17063	1087	38	1	1053	1	UPF1	19	18963850	Missense_Mutation	SNP	G	TCGA-FG-A6J3-01A-11D-A31L-08	2369073	18963850	40165133	78	25891											
ZNF254	9534	broad.mit.edu	37	19	24270074	24270074	+	Translation_Start_Site	SNP	G	G	A			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr19:24270074G>A	ENST00000357002.4	+	0	80				ZNF254_ENST00000342944.6_Intron|ZNF254_ENST00000339642.6_De_novo_Start_OutOfFrame	NM_001278661.1|NM_001278662.1|NM_001278664.1|NM_001278677.1|NM_001278678.1|NM_203282.2	NP_001265590.1|NP_001265591.1|NP_001265593.1|NP_001265606.1|NP_001265607.1|NP_975011.3	O75437	ZN254_HUMAN	zinc finger protein 254						negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)				CCTCTGTGGCGCTGTTACCAG	0.592													19	55					0	0	1	0	0	A	24270074	G	A	24270074	1	1	219	1	0	0	0	0	0	0	0	0	17856	1102	38	1		1	ZNF254	19	24270074	Translation_Start_Site	SNP	G	TCGA-FG-A6J3-01A-11D-A31L-08	5306224	24270074	34858909	79	25892											
C19orf55	148137	broad.mit.edu	37	19	36259310	36259310	+	Missense_Mutation	SNP	G	G	T			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr19:36259310G>T	ENST00000396908.4	+	12	1376	c.1303G>T	c.(1303-1305)Gcg>Tcg	p.A435S	C19orf55_ENST00000544099.1_3'UTR	NM_001039887.2	NP_001034976.2	Q2NL68	CS055_HUMAN	chromosome 19 open reading frame 55	436										cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)	15	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CTCCAGGGAAGCGGATGCCCG	0.627													4	30					1.23904e-05	1.45769e-05	1	1	0	T	36259310	G	T	36259310	3	4	219	1	0	0	0	0	1	0	0	0	1949	986	34	4		4	C19orf55	19	36259310	Missense_Mutation	SNP	G	TCGA-FG-A6J3-01A-11D-A31L-08	11989236	36259310	22869673	80	25893											
SULT2B1	6820	broad.mit.edu	37	19	49102472	49102472	+	Missense_Mutation	SNP	G	G	T			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr19:49102472G>T	ENST00000323090.4	+	6	1237	c.862G>T	c.(862-864)Ggg>Tgg	p.G288W	SULT2B1_ENST00000594274.1_3'UTR|SULT2B1_ENST00000201586.2_Missense_Mutation_p.G303W	NM_004605.2	NP_004596.2	O00204	ST2B1_HUMAN	sulfotransferase family, cytosolic, 2B, member 1	303					3'-phosphoadenosine 5'-phosphosulfate metabolic process|steroid metabolic process|xenobiotic metabolic process	cytosol	alcohol sulfotransferase activity|protein binding|steroid sulfotransferase activity			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|skin(2)|urinary_tract(1)	11		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000115)|all cancers(93;0.000147)|GBM - Glioblastoma multiforme(486;0.00707)|Epithelial(262;0.0178)		GCAGATGCGGGGGATGCCGAC	0.657													3	9					0.184627	0.189361	1	1	0	T	49102472	G	T	49102472	3	4	219	1	0	0	0	0	1	0	0	0	15438	1232	43	5	959	5	SULT2B1	19	49102472	Missense_Mutation	SNP	G	TCGA-FG-A6J3-01A-11D-A31L-08	12843162	49102472	10026511	81	25894											
PTPRH	5794	broad.mit.edu	37	19	55699488	55699488	+	Missense_Mutation	SNP	C	C	A			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr19:55699488C>A	ENST00000376350.3	-	13	2455	c.2433G>T	c.(2431-2433)aaG>aaT	p.K811N	PTPRH_ENST00000263434.5_Missense_Mutation_p.K633N	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	811					apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		CCCTCTCATTCTTCCTGACGT	0.572													9	87					1.58986e-06	1.94677e-06	1	1	0	A	55699488	C	A	55699488	3	1	219	1	0	0	0	0	1	0	0	0	12855	912	32	4	946	4	PTPRH	19	55699488	Missense_Mutation	SNP	C	TCGA-FG-A6J3-01A-11D-A31L-08	6597016	55699488	3429495	82	25895											
SS18L1	26039	broad.mit.edu	37	20	60736516	60736516	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr20:60736516G>A	ENST00000331758.3	+	4	282	c.256G>A	c.(256-258)Ggc>Agc	p.G86S	SS18L1_ENST00000421564.1_Missense_Mutation_p.G86S|SS18L1_ENST00000370848.4_Missense_Mutation_p.G89S	NM_198935.1	NP_945173.1	O75177	CREST_HUMAN	synovial sarcoma translocation gene on chromosome 18-like 1	86	N-terminal auto-inhibitory domain; necessary for interaction with SMARCA4/BRG1 (By similarity).				chromatin modification|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	condensed chromosome kinetochore			SS18L1/SSX1(2)	ovary(2)|skin(1)	3	Breast(26;3.97e-09)		BRCA - Breast invasive adenocarcinoma(19;1.92e-08)			CATGAACCTGGGCCCTGGAGC	0.627			T	SSX1	synovial sarcoma								18	63					0	0	1	0	0	A	60736516	G	A	60736516	3	1	219	1	0	0	0	0	1	0	0	0	15232	1232	43	2	270	2	SS18L1	20	60736516	Missense_Mutation	SNP	G	TCGA-FG-A6J3-01A-11D-A31L-08		60736516	2289004	83	25896											
DDTL	100037417	broad.mit.edu	37	22	24313560	24313560	+	Silent	SNP	T	T	C			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr22:24313560T>C	ENST00000215770.5	+	3	384	c.370T>C	c.(370-372)Ttg>Ctg	p.L124L	DDT_ENST00000398344.4_3'UTR|DDT_ENST00000350608.3_3'UTR	NM_001084393.1	NP_001077862.1	A6NHG4	DDTL_HUMAN	D-dopachrome tautomerase-like	124						cytoplasm	lyase activity			kidney(1)|urinary_tract(1)	2						GAAGTCATGTTTGAATGAGGA	0.468													14	60					0	0	1	0	0	C	24313560	T	C	24313560	2	2	219	1	0	0	0	0	0	0	0	1	4363	1838	64	3		3	DDTL	22	24313560	Silent	SNP	T	TCGA-FG-A6J3-01A-11D-A31L-08		24313560	26991006	84	25897											
MYH9	4627	broad.mit.edu	37	22	36681964	36681964	+	Silent	SNP	G	G	A			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr22:36681964G>A	ENST00000216181.5	-	36	5327	c.5097C>T	c.(5095-5097)gcC>gcT	p.A1699A	MYH9_ENST00000475726.1_5'UTR	NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	1699					actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						GCTCCTGCTGGGCCTGGCGCT	0.652			T	ALK	ALCL		"Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"		Hereditary Macrothrombocytopenia, MYH9-associated				21	39					0	0	1	0	0	A	36681964	G	A	36681964	2	1	219	1	0	0	0	0	0	0	0	1	10090	1219	43	2		2	MYH9	22	36681964	Silent	SNP	G	TCGA-FG-A6J3-01A-11D-A31L-08	12368404	36681964	14622602	85	25898											
TCF20	6942	broad.mit.edu	37	22	42608734	42608734	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr22:42608734G>A	ENST00000359486.3	-	1	2714	c.2578C>T	c.(2578-2580)Ctc>Ttc	p.L860F	TCF20_ENST00000335626.4_Missense_Mutation_p.L860F	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	860					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						CTTTCAGAGAGGGAACCCCCA	0.478													24	92					0	0	1	0	0	A	42608734	G	A	42608734	3	1	219	1	0	0	0	0	1	0	0	0	15750	1000	35	2	3342	2	TCF20	22	42608734	Missense_Mutation	SNP	G	TCGA-FG-A6J3-01A-11D-A31L-08	5926770	42608734	8695832	86	25899											
BRD1	23774	broad.mit.edu	37	22	50217457	50217457	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr22:50217457T>C	ENST00000216267.8	-	1	995	c.509A>G	c.(508-510)aAt>aGt	p.N170S	BRD1_ENST00000404760.1_Missense_Mutation_p.N170S|BRD1_ENST00000457780.2_Missense_Mutation_p.N170S|BRD1_ENST00000404034.1_Missense_Mutation_p.N170S	NM_014577.1	NP_055392.1	O95696	BRD1_HUMAN	bromodomain containing 1	170					histone H3 acetylation	MOZ/MORF histone acetyltransferase complex	zinc ion binding			endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	37		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)		GCGCTTCTCATTGACGATCTC	0.567													23	30					0	0	1	0	0	C	50217457	T	C	50217457	3	2	219	1	0	0	0	0	1	0	0	0	1503	1493	52	3	2715	3	BRD1	22	50217457	Missense_Mutation	SNP	T	TCGA-FG-A6J3-01A-11D-A31L-08	7608723	50217457	1087109	87	25900											
NHS	4810	broad.mit.edu	37	X	17739569	17739569	+	Silent	SNP	C	C	A			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chrX:17739569C>A	ENST00000380060.3	+	4	1199	c.861C>A	c.(859-861)ccC>ccA	p.P287P	NHS_ENST00000485305.1_3'UTR|NHS_ENST00000398097.3_Silent_p.P131P	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	287						nucleus				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					AGTCCCATCCCCCAGAGGATG	0.423													7	48					0.00198382	0.00212552	1	1	0	A	17739569	C	A	17739569	2	1	219	1	0	0	0	0	0	0	0	1	10458	610	22	5		5	NHS	23	17739569	Silent	SNP	C	TCGA-FG-A6J3-01A-11D-A31L-08		17739569	137530991	88	25901											
MTMR8	55613	broad.mit.edu	37	X	63444340	63444340	+	Missense_Mutation	SNP	G	G	A	rs148589525	byFrequency	TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chrX:63444340G>A	ENST00000453546.1	-	11	2046	c.1957C>T	c.(1957-1959)Cgg>Tgg	p.R653W	ASB12_ENST00000396130.2_Missense_Mutation_p.R269W|ASB12_ENST00000362002.2_Missense_Mutation_p.R278W			Q96EF0	MTMR8_HUMAN	myotubularin related protein 8	0						nuclear envelope	protein tyrosine phosphatase activity	p.0?(2)		breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|skin(3)	37						AGAAGTGACCGTGGAGTGGCT	0.522													18	23					0	0	1	0	0	A	63444340	G	A	63444340	3	1	219	1	0	0	0	0	1	0	0	0	9997	1144	40	1		1	MTMR8	23	63444340	Missense_Mutation	SNP	G	TCGA-FG-A6J3-01A-11D-A31L-08	45704771	63444340	91826220	89	25902											
OPHN1	4983	broad.mit.edu	37	X	67273590	67273590	+	Missense_Mutation	SNP	G	G	T			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chrX:67273590G>T	ENST00000355520.5	-	22	2862	c.2221C>A	c.(2221-2223)Cca>Aca	p.P741T	OPHN1_ENST00000540071.1_Missense_Mutation_p.P633T	NM_002547.2	NP_002538.1	O60890	OPHN1_HUMAN	oligophrenin 1	741	Pro-rich.				axon guidance|endocytosis|filopodium assembly|small GTPase mediated signal transduction|substrate-dependent cell migration, cell extension	axon|cell junction|cytosol|dendritic spine|synapse	cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|skin(2)	31						GGCCTCACTGGGGGGCGGATG	0.552													4	53					1	1	1	1	0	T	67273590	G	T	67273590	3	4	219	1	0	0	0	0	1	0	0	0	10923	1232	43	5	199	5	OPHN1	23	67273590	Missense_Mutation	SNP	G	TCGA-FG-A6J3-01A-11D-A31L-08	3829250	67273590	87996970	90	25903											
CDX4	1046	broad.mit.edu	37	X	72667535	72667535	+	Missense_Mutation	SNP	C	C	A			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chrX:72667535C>A	ENST00000373514.2	+	1	446	c.446C>A	c.(445-447)cCc>cAc	p.P149H		NM_005193.1	NP_005184.1	O14627	CDX4_HUMAN	caudal type homeobox 4	149						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|skin(1)	18	Renal(35;0.156)					GCCAGTTCCCCCAGCAGGAGC	0.647													7	47					0.00198382	0.00212552	1	1	0	A	72667535	C	A	72667535	3	1	219	1	0	0	0	0	1	0	0	0	3206	623	22	5	448	5	CDX4	23	72667535	Missense_Mutation	SNP	C	TCGA-FG-A6J3-01A-11D-A31L-08	5393945	72667535	82603025	91	25904											
DIAPH2	1730	broad.mit.edu	37	X	96173534	96173534	+	Missense_Mutation	SNP	C	C	A			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chrX:96173534C>A	ENST00000324765.8	+	9	1243	c.896C>A	c.(895-897)aCa>aAa	p.T299K	DIAPH2_ENST00000373049.4_Missense_Mutation_p.T299K|DIAPH2_ENST00000373061.3_Missense_Mutation_p.T299K|DIAPH2_ENST00000355827.4_Missense_Mutation_p.T299K|DIAPH2_ENST00000373054.4_Missense_Mutation_p.T295K			O60879	DIAP2_HUMAN	diaphanous-related formin 2	299	GBD/FH3.				cell differentiation|cytokinesis|multicellular organismal development|oogenesis	cytosol|early endosome|Golgi apparatus|mitochondrion|nucleolus	receptor binding|Rho GTPase binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51						GGGGCTATAACAACAGCAGCA	0.368													8	44					3.86212e-05	4.41385e-05	1	1	0	A	96173534	C	A	96173534	3	1	219	1	0	0	0	0	1	0	0	0	4547	478	17	5	930	5	DIAPH2	23	96173534	Missense_Mutation	SNP	C	TCGA-FG-A6J3-01A-11D-A31L-08	23505999	96173534	59097026	92	25905											
AIFM1	9131	broad.mit.edu	37	X	129274525	129274525	+	Missense_Mutation	SNP	T	T	A			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chrX:129274525T>A	ENST00000287295.3	-	7	994	c.764A>T	c.(763-765)aAg>aTg	p.K255M	AIFM1_ENST00000346424.2_Intron|AIFM1_ENST00000535724.1_Missense_Mutation_p.K168M|AIFM1_ENST00000319908.3_Missense_Mutation_p.K251M	NM_001130847.3|NM_004208.3	NP_001124319.1|NP_004199.1	O95831	AIFM1_HUMAN	apoptosis-inducing factor, mitochondrion-associated, 1	255	FAD-dependent oxidoreductase (By similarity).				activation of caspase activity|apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change	cytosol|mitochondrial inner membrane|mitochondrial intermembrane space|nucleus|perinuclear region of cytoplasm	DNA binding|electron carrier activity|flavin adenine dinucleotide binding|oxidoreductase activity|protein binding			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(4)|prostate(2)|urinary_tract(1)	30						AATCAAGCACTTTTCATAGGT	0.423													13	75					0	0	1	0	0	A	129274525	T	A	129274525	3	1	219	1	0	0	0	0	1	0	0	0	423	1609	56	5	1129	5	AIFM1	23	129274525	Missense_Mutation	SNP	T	TCGA-FG-A6J3-01A-11D-A31L-08	33100991	129274525	25996035	93	25906											
ARHGAP36	158763	broad.mit.edu	37	X	130220045	130220045	+	Missense_Mutation	SNP	C	C	A			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chrX:130220045C>A	ENST00000276211.5	+	9	1608	c.1263C>A	c.(1261-1263)aaC>aaA	p.N421K	ARHGAP36_ENST00000370922.1_Missense_Mutation_p.N409K|ARHGAP36_ENST00000370921.1_Missense_Mutation_p.N285K	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN	Rho GTPase activating protein 36	421	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						TGATTGATAACTGGGATGTCC	0.448													35	188					1.60099e-16	2.04381e-16	1	1	0	A	130220045	C	A	130220045	3	1	219	1	0	0	0	0	1	0	0	0	880	564	20	4	1293	4	ARHGAP36	23	130220045	Missense_Mutation	SNP	C	TCGA-FG-A6J3-01A-11D-A31L-08	945520	130220045	25050515	94	25907											
NT5C1A	84618	broad.mit.edu	37	1	40137623	40137623	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A70Y-01A-12D-A34J-08	TCGA-FG-A70Y-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	700928a2-4795-4590-9bab-63c38f8503f0	d647c017-124c-4573-872b-dab5575f2346	g.chr1:40137623C>T	ENST00000235628.1	-	1	87	c.88G>A	c.(88-90)Gcc>Acc	p.A30T		NM_032526.1	NP_115915.1	Q9BXI3	5NT1A_HUMAN	5'-nucleotidase, cytosolic IA	30					purine base metabolic process|purine nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	cytosol	5'-nucleotidase activity|magnesium ion binding|nucleotide binding			breast(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)	15	Lung NSC(20;3.81e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;4.3e-17)|all cancers(16;8.48e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			AAAATCTTGGCTTCCTCCCAG	0.662													15	74					0	0	1	0	0	T	40137623	C	T	40137623	3	4	220	1	0	0	0	0	1	0	0	0	10733	797	28	2	1042	2	NT5C1A	1	40137623	Missense_Mutation	SNP	C	TCGA-FG-A70Y-01A-12D-A34J-08		40137623	209112998	1	25908											
TM2D1	83941	broad.mit.edu	37	1	62189460	62189461	+	Splice_Site	INS	-	-	A	rs147863719		TCGA-FG-A70Y-01A-12D-A34J-08	TCGA-FG-A70Y-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	700928a2-4795-4590-9bab-63c38f8503f0	d647c017-124c-4573-872b-dab5575f2346	g.chr1:62189460_62189461insA	ENST00000371177.2	-	2	177		c.e2-2		TM2D1_ENST00000294613.5_Intron|TM2D1_ENST00000606498.1_Splice_Site|TM2D1_ENST00000371180.2_Splice_Site			Q9BX74	TM2D1_HUMAN	TM2 domain containing 1						apoptosis					large_intestine(2)|lung(3)|ovary(1)	6						CAAATATATGTAAAAAAAAAAG	0.302													2	4	---	---	---	---						A	62189461	-	A	62189460	8	5	220	1	0	1	1	0	0	0	1	0	16023	1653	57	0		0	TM2D1	1	62189460	Splice_Site	INS	-	TCGA-FG-A70Y-01A-12D-A34J-08	22051837	62189460	187061161	2	25909											
CDC7	8317	broad.mit.edu	37	1	91978676	91978676	+	Missense_Mutation	SNP	A	A	C			TCGA-FG-A70Y-01A-12D-A34J-08	TCGA-FG-A70Y-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	700928a2-4795-4590-9bab-63c38f8503f0	d647c017-124c-4573-872b-dab5575f2346	g.chr1:91978676A>C	ENST00000428239.1	+	7	893	c.634A>C	c.(634-636)Aaa>Caa	p.K212Q	CDC7_ENST00000430031.2_Missense_Mutation_p.K184Q|CDC7_ENST00000234626.6_Missense_Mutation_p.K212Q	NM_001134420.1	NP_001127892.1	O00311	CDC7_HUMAN	cell division cycle 7	212	Protein kinase.				cell cycle checkpoint|cell division|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|positive regulation of cell proliferation|regulation of S phase	cytoplasm|nucleoplasm	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|stomach(2)	23		all_lung(203;0.0165)|Lung NSC(277;0.0562)		all cancers(265;0.00108)|Epithelial(280;0.0184)|KIRC - Kidney renal clear cell carcinoma(1967;0.124)		AGAGCTTCTTAAATTTGTCCA	0.408													4	52					0	0	1	0	0	C	91978676	A	C	91978676	3	2	220	1	0	0	0	0	1	0	0	0	3106	363	13	5	656	5	CDC7	1	91978676	Missense_Mutation	SNP	A	TCGA-FG-A70Y-01A-12D-A34J-08	29789216	91978676	157271945	3	25910											
OR10K1	391109	broad.mit.edu	37	1	158436010	158436010	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A70Y-01A-12D-A34J-08	TCGA-FG-A70Y-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	700928a2-4795-4590-9bab-63c38f8503f0	d647c017-124c-4573-872b-dab5575f2346	g.chr1:158436010G>A	ENST00000289451.2	+	1	739	c.659G>A	c.(658-660)cGc>cAc	p.R220H		NM_001004473.1	NP_001004473.1	Q8NGX5	O10K1_HUMAN	olfactory receptor, family 10, subfamily K, member 1	220					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R220H(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	27	all_hematologic(112;0.0378)					TCCTACATCCGCATCATCTCT	0.478													10	61					0	0	1	0	0	A	158436010	G	A	158436010	3	1	220	1	0	0	0	0	1	0	0	0	10961	1087	38	1	661	1	OR10K1	1	158436010	Missense_Mutation	SNP	G	TCGA-FG-A70Y-01A-12D-A34J-08	66457334	158436010	90814611	4	25911											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-FG-A70Y-01A-12D-A34J-08	TCGA-FG-A70Y-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	700928a2-4795-4590-9bab-63c38f8503f0	d647c017-124c-4573-872b-dab5575f2346	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								25	66					0	0	1	0	0	T	209113112	C	T	209113112	3	4	220	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-FG-A70Y-01A-12D-A34J-08		209113112	34086261	5	25912											
SCN11A	11280	broad.mit.edu	37	3	38892224	38892224	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A70Y-01A-12D-A34J-08	TCGA-FG-A70Y-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	700928a2-4795-4590-9bab-63c38f8503f0	d647c017-124c-4573-872b-dab5575f2346	g.chr3:38892224C>T	ENST00000450244.1	-	25	4273	c.4075G>A	c.(4075-4077)Gtg>Atg	p.V1359M	SCN11A_ENST00000444237.2_Missense_Mutation_p.V1359M|SCN11A_ENST00000302328.3_Missense_Mutation_p.V1359M|SCN11A_ENST00000456224.3_Missense_Mutation_p.V1321M			Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	1359					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	ATGTCGAACACGAGACCTTGA	0.308													11	34					0	0	1	0	0	T	38892224	C	T	38892224	3	4	220	1	0	0	0	0	1	0	0	0	13967	536	19	1	1308	1	SCN11A	3	38892224	Missense_Mutation	SNP	C	TCGA-FG-A70Y-01A-12D-A34J-08		38892224	159130206	6	25913											
MYLK	4638	broad.mit.edu	37	3	123375992	123375992	+	Silent	SNP	C	C	T			TCGA-FG-A70Y-01A-12D-A34J-08	TCGA-FG-A70Y-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	700928a2-4795-4590-9bab-63c38f8503f0	d647c017-124c-4573-872b-dab5575f2346	g.chr3:123375992C>T	ENST00000360772.3	-	25	4647	c.4269G>A	c.(4267-4269)acG>acA	p.T1423T	MYLK_ENST00000359169.1_Silent_p.T1423T|MYLK_ENST00000354792.5_Silent_p.T223T|MYLK_ENST00000360304.3_Silent_p.T1423T|MYLK_ENST00000346322.5_Silent_p.T1354T|MYLK_ENST00000475616.1_Silent_p.T1423T			Q15746	MYLK_HUMAN	myosin light chain kinase	1423	Actin-binding (calcium/calmodulin- insensitive) (By similarity).				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		TCTCTCCTACCGTTGTGAGTT	0.493													22	58					0	0	1	0	0	T	123375992	C	T	123375992	2	4	220	1	0	0	0	0	0	0	0	1	10104	639	23	1		1	MYLK	3	123375992	Silent	SNP	C	TCGA-FG-A70Y-01A-12D-A34J-08	84483768	123375992	74646438	7	25914											
SLC2A9	56606	broad.mit.edu	37	4	10027566	10027566	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A70Y-01A-12D-A34J-08	TCGA-FG-A70Y-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	700928a2-4795-4590-9bab-63c38f8503f0	d647c017-124c-4573-872b-dab5575f2346	g.chr4:10027566C>T	ENST00000506583.1	-	3	242	c.25G>A	c.(25-27)Gga>Aga	p.G9R	SLC2A9_ENST00000309065.3_Missense_Mutation_p.G9R			Q9NRM0	GTR9_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 9	0					glucose transport|urate metabolic process	integral to membrane|plasma membrane	sugar:hydrogen symporter activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(1)	35						TCATCTTCTCCTCGGTCCTTT	0.388													23	81					0	0	1	0	0	T	10027566	C	T	10027566	3	4	220	1	0	0	0	0	1	0	0	0	14607	690	24	2	1712	2	SLC2A9	4	10027566	Missense_Mutation	SNP	C	TCGA-FG-A70Y-01A-12D-A34J-08		10027566	181126710	8	25915											
TAPT1	202018	broad.mit.edu	37	4	16215462	16215462	+	Missense_Mutation	SNP	T	T	G			TCGA-FG-A70Y-01A-12D-A34J-08	TCGA-FG-A70Y-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	700928a2-4795-4590-9bab-63c38f8503f0	d647c017-124c-4573-872b-dab5575f2346	g.chr4:16215462T>G	ENST00000405303.2	-	2	342	c.259A>C	c.(259-261)Aat>Cat	p.N87H	TAPT1_ENST00000508888.1_5'UTR|TAPT1_ENST00000399920.3_Intron	NM_153365.2	NP_699196.2	Q6NXT6	TAPT1_HUMAN	transmembrane anterior posterior transformation 1	87						integral to membrane	growth hormone-releasing hormone receptor activity			NS(1)|breast(2)|cervix(1)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)	10						TTGGCCTCATTATGTTCAAGG	0.353													5	43					0	0	1	0	0	G	16215462	T	G	16215462	3	3	220	1	0	0	0	0	1	0	0	0	15611	1754	61	5	1496	5	TAPT1	4	16215462	Missense_Mutation	SNP	T	TCGA-FG-A70Y-01A-12D-A34J-08	6187896	16215462	174938814	9	25916											
CARD6	84674	broad.mit.edu	37	5	40852495	40852495	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A70Y-01A-12D-A34J-08	TCGA-FG-A70Y-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	700928a2-4795-4590-9bab-63c38f8503f0	d647c017-124c-4573-872b-dab5575f2346	g.chr5:40852495G>A	ENST00000254691.5	+	3	1260	c.1061G>A	c.(1060-1062)aGc>aAc	p.S354N	CARD6_ENST00000381677.3_Intron	NM_032587.3	NP_115976.2	Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	354					apoptosis|regulation of apoptosis	intracellular				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						GATGAAGATAGCAAGGAGGAT	0.463													10	17					0	0	1	0	0	A	40852495	G	A	40852495	3	1	220	1	0	0	0	0	1	0	0	0	2668	971	34	2	1071	2	CARD6	5	40852495	Missense_Mutation	SNP	G	TCGA-FG-A70Y-01A-12D-A34J-08		40852495	140062765	10	25917											
TTC1	7265	broad.mit.edu	37	5	159437647	159437647	+	Missense_Mutation	SNP	A	A	G			TCGA-FG-A70Y-01A-12D-A34J-08	TCGA-FG-A70Y-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	700928a2-4795-4590-9bab-63c38f8503f0	d647c017-124c-4573-872b-dab5575f2346	g.chr5:159437647A>G	ENST00000231238.5	+	2	222	c.112A>G	c.(112-114)Aat>Gat	p.N38D	TTC1_ENST00000522793.1_Missense_Mutation_p.N38D	NM_001282500.1|NM_003314.1	NP_001269429.1|NP_003305.1	Q99614	TTC1_HUMAN	tetratricopeptide repeat domain 1	38					protein folding		unfolded protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(1)|prostate(1)|skin(1)	12	Renal(175;0.00196)	all_hematologic(541;0.00014)|Breast(839;0.0101)|all_neural(177;0.0281)|Medulloblastoma(196;0.0425)|Lung NSC(249;0.119)|all_lung(500;0.163)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	Epithelial(171;8.37e-05)|all cancers(165;0.000694)|OV - Ovarian serous cystadenocarcinoma(192;0.0402)		TGATCCCAAAAATCAGCATTC	0.507													3	22					0	0	1	0	0	G	159437647	A	G	159437647	3	3	220	1	0	0	0	0	1	0	0	0	16740	14	1	3	114	3	TTC1	5	159437647	Missense_Mutation	SNP	A	TCGA-FG-A70Y-01A-12D-A34J-08	118585152	159437647	21477613	11	25918											
RUNX2	860	broad.mit.edu	37	6	45390463	45390463	+	Silent	SNP	G	G	A			TCGA-FG-A70Y-01A-12D-A34J-08	TCGA-FG-A70Y-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	700928a2-4795-4590-9bab-63c38f8503f0	d647c017-124c-4573-872b-dab5575f2346	g.chr6:45390463G>A	ENST00000371438.1	+	2	550	c.192G>A	c.(190-192)caG>caA	p.Q64Q	RUNX2_ENST00000352853.5_Silent_p.Q132Q|RUNX2_ENST00000465038.2_Silent_p.Q64Q|RUNX2_ENST00000371436.6_Silent_p.Q64Q|RUNX2_ENST00000359524.5_Silent_p.Q50Q|RUNX2_ENST00000371432.3_Silent_p.Q50Q|RUNX2_ENST00000576263.1_Silent_p.Q64Q|RUNX2_ENST00000541979.1_Silent_p.Q132Q	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	64	Poly-Gln.				negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						agcagcagcagcaacagcagc	0.736													3	16					0	0	1	0	0	A	45390463	G	A	45390463	2	1	220	1	0	0	0	0	0	0	0	1	13800	962	34	2		2	RUNX2	6	45390463	Silent	SNP	G	TCGA-FG-A70Y-01A-12D-A34J-08		45390463	125724604	12	25919											
KIAA1244	57221	broad.mit.edu	37	6	138618038	138618038	+	Silent	SNP	G	G	A			TCGA-FG-A70Y-01A-12D-A34J-08	TCGA-FG-A70Y-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	700928a2-4795-4590-9bab-63c38f8503f0	d647c017-124c-4573-872b-dab5575f2346	g.chr6:138618038G>A	ENST00000251691.4	+	21	3760	c.3594G>A	c.(3592-3594)cgG>cgA	p.R1198R		NM_020340.4	NP_065073.3	Q5TH69	BIG3_HUMAN	KIAA1244	1198					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		GCAAAGCACGGCCCCTGCTCC	0.587													5	95					0	0	1	0	0	A	138618038	G	A	138618038	2	1	220	1	0	0	0	0	0	0	0	1	8259	1190	42	2		2	KIAA1244	6	138618038	Silent	SNP	G	TCGA-FG-A70Y-01A-12D-A34J-08	93227575	138618038	32497029	13	25920											
GNAI1	2770	broad.mit.edu	37	7	79846748	79846748	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-A70Y-01A-12D-A34J-08	TCGA-FG-A70Y-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	700928a2-4795-4590-9bab-63c38f8503f0	d647c017-124c-4573-872b-dab5575f2346	g.chr7:79846748T>C	ENST00000351004.3	+	8	1377	c.1004T>C	c.(1003-1005)gTt>gCt	p.V335A	GNAI1_ENST00000457358.2_Missense_Mutation_p.V283A	NM_002069.5	NP_002060.4	P63096	GNAI1_HUMAN	guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 1	335					cell cycle|cell division|inhibition of adenylate cyclase activity by G-protein signaling pathway|platelet activation|synaptic transmission	centrosome|heterotrimeric G-protein complex|midbody|nucleus	G-protein beta/gamma-subunit complex binding|GTP binding|metabotropic serotonin receptor binding|signal transducer activity			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	19						GTGCAGTTTGTTTTTGATGCT	0.318													4	65					0	0	1	0	0	C	79846748	T	C	79846748	3	2	220	1	0	0	0	0	1	0	0	0	6546	1725	60	3	1034	3	GNAI1	7	79846748	Missense_Mutation	SNP	T	TCGA-FG-A70Y-01A-12D-A34J-08		79846748	79291915	14	25921											
PPP1R3A	5506	broad.mit.edu	37	7	113518984	113518984	+	Silent	SNP	A	A	G			TCGA-FG-A70Y-01A-12D-A34J-08	TCGA-FG-A70Y-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	700928a2-4795-4590-9bab-63c38f8503f0	d647c017-124c-4573-872b-dab5575f2346	g.chr7:113518984A>G	ENST00000284601.3	-	4	2231	c.2163T>C	c.(2161-2163)atT>atC	p.I721I		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	721					glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						CTTTCTCAGTAATGCCATGAT	0.388													44	91					0	0	1	0	0	G	113518984	A	G	113518984	2	3	220	1	0	0	0	0	0	0	0	1	12420	358	13	3		3	PPP1R3A	7	113518984	Silent	SNP	A	TCGA-FG-A70Y-01A-12D-A34J-08	33672236	113518984	45619679	15	25922											
SH3PXD2A	9644	broad.mit.edu	37	10	105362427	105362427	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A70Y-01A-12D-A34J-08	TCGA-FG-A70Y-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	700928a2-4795-4590-9bab-63c38f8503f0	d647c017-124c-4573-872b-dab5575f2346	g.chr10:105362427C>T	ENST00000369774.4	-	15	2824	c.2548G>A	c.(2548-2550)Gcc>Acc	p.A850T	SH3PXD2A_ENST00000427662.2_Intron|SH3PXD2A_ENST00000540321.1_Missense_Mutation_p.A717T|SH3PXD2A_ENST00000355946.2_Missense_Mutation_p.A822T|SH3PXD2A_ENST00000315994.6_5'UTR|SH3PXD2A_ENST00000538130.1_Missense_Mutation_p.A685T			Q5TCZ1	SPD2A_HUMAN	SH3 and PX domains 2A	850	SH3 4.				cell communication|superoxide metabolic process	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38		Colorectal(252;0.0815)|Breast(234;0.131)		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)		TTCTGGTAGGCGCTGCATGTC	0.617													16	33					0	0	1	0	0	T	105362427	C	T	105362427	3	4	220	1	0	0	0	0	1	0	0	0	14311	768	27	1	857	1	SH3PXD2A	10	105362427	Missense_Mutation	SNP	C	TCGA-FG-A70Y-01A-12D-A34J-08		105362427	30172320	16	25923											
SIGIRR	59307	broad.mit.edu	37	11	408721	408721	+	Silent	SNP	G	G	A			TCGA-FG-A70Y-01A-12D-A34J-08	TCGA-FG-A70Y-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	700928a2-4795-4590-9bab-63c38f8503f0	d647c017-124c-4573-872b-dab5575f2346	g.chr11:408721G>A	ENST00000431843.2	-	3	486	c.180C>T	c.(178-180)ggC>ggT	p.G60G	SIGIRR_ENST00000332725.3_Silent_p.G60G|SIGIRR_ENST00000397632.3_Silent_p.G60G|SIGIRR_ENST00000531205.1_Silent_p.G60G|SIGIRR_ENST00000529486.1_Intron|SIGIRR_ENST00000382520.2_Silent_p.G60G	NM_001135054.1	NP_001128526.1	Q6IA17	SIGIR_HUMAN	single immunoglobulin and toll-interleukin 1 receptor (TIR) domain	60	Ig-like C2-type.				acute-phase response|innate immune response|negative regulation of chemokine biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of lipopolysaccharide-mediated signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity	integral to membrane	protein binding|transmembrane receptor activity			cervix(2)|endometrium(1)|liver(1)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	13		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GGCTGTAGTGGCCCCCAATTC	0.597													71	112					0	0	1	0	0	A	408721	G	A	408721	2	1	220	1	0	0	0	0	0	0	0	1	14359	1190	42	2		2	SIGIRR	11	408721	Silent	SNP	G	TCGA-FG-A70Y-01A-12D-A34J-08		408721	134597795	17	25924											
MFSD5	84975	broad.mit.edu	37	12	53647929	53647929	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A70Y-01A-12D-A34J-08	TCGA-FG-A70Y-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	700928a2-4795-4590-9bab-63c38f8503f0	d647c017-124c-4573-872b-dab5575f2346	g.chr12:53647929G>A	ENST00000534842.1	+	2	1778	c.1631G>A	c.(1630-1632)cGg>cAg	p.R544Q	MFSD5_ENST00000329548.4_Missense_Mutation_p.R437Q	NM_001170790.1	NP_001164261.1	Q6N075	MFSD5_HUMAN	major facilitator superfamily domain containing 5	437					transport	integral to membrane				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|skin(3)|urinary_tract(1)	16						GCTGAGCTGCGGGTACCTTCA	0.547													3	60					0	0	1	0	0	A	53647929	G	A	53647929	3	1	220	1	0	0	0	0	1	0	0	0	9584	1116	39	1	1637	1	MFSD5	12	53647929	Missense_Mutation	SNP	G	TCGA-FG-A70Y-01A-12D-A34J-08		53647929	80203966	18	25925											
POTEG	404785	broad.mit.edu	37	14	19553674	19553674	+	Silent	SNP	C	C	T			TCGA-FG-A70Y-01A-12D-A34J-08	TCGA-FG-A70Y-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	700928a2-4795-4590-9bab-63c38f8503f0	d647c017-124c-4573-872b-dab5575f2346	g.chr14:19553674C>T	ENST00000409832.3	+	1	310	c.258C>T	c.(256-258)caC>caT	p.H86H		NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	86										cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						CTGGAGACCACGACGACTCTG	0.602													11	548					0	0	1	0	0	T	19553674	C	T	19553674	2	4	220	1	0	0	0	0	0	0	0	1	12313	535	19	1		1	POTEG	14	19553674	Silent	SNP	C	TCGA-FG-A70Y-01A-12D-A34J-08		19553674	87795866	19	25926											
MYO5C	55930	broad.mit.edu	37	15	52521388	52521388	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-A70Y-01A-12D-A34J-08	TCGA-FG-A70Y-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	700928a2-4795-4590-9bab-63c38f8503f0	d647c017-124c-4573-872b-dab5575f2346	g.chr15:52521388T>C	ENST00000261839.7	-	25	3310	c.3149A>G	c.(3148-3150)gAg>gGg	p.E1050G		NM_018728.3	NP_061198.2	Q9NQX4	MYO5C_HUMAN	myosin VC	1050						myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		AGTGACGTGCTCCCCCTCCAC	0.522													4	169					0	0	1	0	0	C	52521388	T	C	52521388	3	2	220	1	0	0	0	0	1	0	0	0	10128	1551	54	3	2147	3	MYO5C	15	52521388	Missense_Mutation	SNP	T	TCGA-FG-A70Y-01A-12D-A34J-08		52521388	50010004	20	25927											
TP53	7157	broad.mit.edu	37	17	7577127	7577132	+	In_Frame_Del	DEL	CAAAGC	CAAAGC	-	rs67389650		TCGA-FG-A70Y-01A-12D-A34J-08	TCGA-FG-A70Y-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	700928a2-4795-4590-9bab-63c38f8503f0	d647c017-124c-4573-872b-dab5575f2346	g.chr17:7577127_7577132delCAAAGC	ENST00000420246.2	-	8	938_943	c.806_811delGCTTTG	c.(805-813)agctttgag>aag	p.269_271SFE>K	TP53_ENST00000445888.2_In_Frame_Del_p.269_271SFE>K|TP53_ENST00000269305.4_In_Frame_Del_p.269_271SFE>K|TP53_ENST00000455263.2_In_Frame_Del_p.269_271SFE>K|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_In_Frame_Del_p.269_271SFE>K	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	269	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		S -> C (in sporadic cancers; somatic mutation).|S -> G (in sporadic cancers; somatic mutation).|S -> I (in a sporadic cancer; somatic mutation).|S -> N (in sporadic cancers; somatic mutation).|S -> R (in sporadic cancers; somatic mutation).|S -> T (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.E271K(28)|p.F270L(24)|p.E271*(18)|p.F270C(15)|p.F270S(8)|p.0?(8)|p.F270V(7)|p.F270Y(5)|p.F270I(5)|p.E271Q(5)|p.S269N(4)|p.S269S(3)|p.G262_F270delGNLLGRNSF(2)|p.?(2)|p.G262_S269delGNLLGRNS(2)|p.S269_F270>I(2)|p.S269T(2)|p.G266_E271delGRNSFE(2)|p.S269fs*75(1)|p.S269fs*76(1)|p.E258fs*71(1)|p.S269>XXXXX(1)|p.G262fs*2(1)|p.S269R(1)|p.E271_R273delEVR(1)|p.F270fs*72(1)|p.S269_F270insX(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.F270_D281del12(1)|p.S269fs*3(1)|p.E271P(1)|p.E271del(1)|p.S269fs*34(1)|p.E271fs*34(1)|p.E271fs*35(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)		ACACGCACCTCAAAGCTGTTCCGTCC	0.539		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)			8	13	---	---	---	---						-	7577132	CAAAGC	-	7577127	7	5	220	1	0	1	0	1	0	0	0	0	16442	835	29	0	475	0	TP53	17	7577127	In_Frame_Del	DEL	CAAAGC	TCGA-FG-A70Y-01A-12D-A34J-08		7577127	73618083	21	25928											
KIF2B	84643	broad.mit.edu	37	17	51900741	51900741	+	Missense_Mutation	SNP	T	T	G			TCGA-FG-A70Y-01A-12D-A34J-08	TCGA-FG-A70Y-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	700928a2-4795-4590-9bab-63c38f8503f0	d647c017-124c-4573-872b-dab5575f2346	g.chr17:51900741T>G	ENST00000268919.4	+	1	503	c.347T>G	c.(346-348)gTt>gGt	p.V116G		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	116					blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						ACGAAATGGGTTGCGATGATC	0.602													28	63					0	0	1	0	0	G	51900741	T	G	51900741	3	3	220	1	0	0	0	0	1	0	0	0	8340	1725	60	5	349	5	KIF2B	17	51900741	Missense_Mutation	SNP	T	TCGA-FG-A70Y-01A-12D-A34J-08	44323614	51900741	29294469	22	25929											
RUVBL2	10856	broad.mit.edu	37	19	49513785	49513785	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A70Y-01A-12D-A34J-08	TCGA-FG-A70Y-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	700928a2-4795-4590-9bab-63c38f8503f0	d647c017-124c-4573-872b-dab5575f2346	g.chr19:49513785G>A	ENST00000413176.2	+	9	1717	c.569G>A	c.(568-570)cGc>cAc	p.R190H	RUVBL2_ENST00000595090.1_Missense_Mutation_p.R235H|RUVBL2_ENST00000601968.1_Missense_Mutation_p.R190H			Q9Y230	RUVB2_HUMAN	RuvB-like AAA ATPase 2	235					cellular response to UV|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|protein folding|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|Ino80 complex|membrane|MLL1 complex|NuA4 histone acetyltransferase complex|nuclear matrix	ATP binding|ATP-dependent DNA helicase activity|damaged DNA binding|identical protein binding|unfolded protein binding			large_intestine(1)|upper_aerodigestive_tract(1)	2		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000449)|OV - Ovarian serous cystadenocarcinoma(262;0.000555)|GBM - Glioblastoma multiforme(486;0.00585)|Epithelial(262;0.047)		CTCCAGAAACGCAAGGAGGTG	0.647													5	90					0	0	1	0	0	A	49513785	G	A	49513785	3	1	220	1	0	0	0	0	1	0	0	0	13805	1087	38	1	738	1	RUVBL2	19	49513785	Missense_Mutation	SNP	G	TCGA-FG-A70Y-01A-12D-A34J-08		49513785	9615198	23	25930											
POLD1	5424	broad.mit.edu	37	19	50918151	50918151	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A70Y-01A-12D-A34J-08	TCGA-FG-A70Y-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	700928a2-4795-4590-9bab-63c38f8503f0	d647c017-124c-4573-872b-dab5575f2346	g.chr19:50918151G>A	ENST00000440232.2	+	20	2521	c.2468G>A	c.(2467-2469)cGc>cAc	p.R823H	POLD1_ENST00000595904.1_Missense_Mutation_p.R849H|POLD1_ENST00000599857.1_Missense_Mutation_p.R823H	NM_001256849.1|NM_002691.3	NP_001243778.1|NP_002682.2	P28340	DPOD1_HUMAN	polymerase (DNA directed), delta 1, catalytic subunit	823					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|DNA synthesis involved in DNA repair|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|response to UV|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	delta DNA polymerase complex|nucleoplasm|nucleotide-excision repair complex	3'-5'-exodeoxyribonuclease activity|chromatin binding|DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_neural(266;0.0571)		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)		GCCCACGACCGCATGGACTGC	0.662								DNA polymerases (catalytic subunits)			OREG0025635	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	36					0	0	1	0	0	A	50918151	G	A	50918151	3	1	220	1	0	0	0	0	1	0	0	0	12238	1087	38	1	2542	1	POLD1	19	50918151	Missense_Mutation	SNP	G	TCGA-FG-A70Y-01A-12D-A34J-08	1404366	50918151	8210832	24	25931											
ATRX	546	broad.mit.edu	37	X	76909629	76909629	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FG-A70Y-01A-12D-A34J-08	TCGA-FG-A70Y-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	700928a2-4795-4590-9bab-63c38f8503f0	d647c017-124c-4573-872b-dab5575f2346	g.chrX:76909629G>A	ENST00000373344.5	-	14	4490	c.4276C>T	c.(4276-4278)Cga>Tga	p.R1426*	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Nonsense_Mutation_p.R1388*	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1426					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.R1426*(1)|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)	TTAATACGTCGCCTTTTCTTT	0.328			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						45	88					0	0	1	0	0	A	76909629	G	A	76909629	4	1	220	1	0	0	0	0	0	1	0	0	1206	1095	38	1	3290	1	ATRX	23	76909629	Nonsense_Mutation	SNP	G	TCGA-FG-A70Y-01A-12D-A34J-08		76909629	78360931	25	25932											
RGAG1	57529	broad.mit.edu	37	X	109696777	109696777	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A70Y-01A-12D-A34J-08	TCGA-FG-A70Y-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	700928a2-4795-4590-9bab-63c38f8503f0	d647c017-124c-4573-872b-dab5575f2346	g.chrX:109696777C>T	ENST00000465301.2	+	3	3178	c.2932C>T	c.(2932-2934)Ccg>Tcg	p.P978S	RGAG1_ENST00000540313.1_Missense_Mutation_p.P978S	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	978										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						GATGTCTATGCCGCTAATGGA	0.502													4	186					0	0	1	0	0	T	109696777	C	T	109696777	3	4	220	1	0	0	0	0	1	0	0	0	13326	739	26	2	2934	2	RGAG1	23	109696777	Missense_Mutation	SNP	C	TCGA-FG-A70Y-01A-12D-A34J-08	32787148	109696777	45573783	26	25933											
AGTR2	186	broad.mit.edu	37	X	115304314	115304314	+	Missense_Mutation	SNP	G	G	C			TCGA-FG-A70Y-01A-12D-A34J-08	TCGA-FG-A70Y-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	700928a2-4795-4590-9bab-63c38f8503f0	d647c017-124c-4573-872b-dab5575f2346	g.chrX:115304314G>C	ENST00000371906.4	+	3	971	c.781G>C	c.(781-783)Gtt>Ctt	p.V261L		NM_000686.4	NP_000677.2	P50052	AGTR2_HUMAN	angiotensin II receptor, type 2	261					behavior|blood vessel remodeling|brain development|G-protein signaling, coupled to cGMP nucleotide second messenger|intracellular protein kinase cascade|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of heart rate|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of nitric-oxide synthase activity|positive regulation of phosphoprotein phosphatase activity|positive regulation of vasodilation|regulation of systemic arterial blood pressure by circulatory renin-angiotensin		angiotensin type II receptor activity|receptor antagonist activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|skin(1)	24						GGCAGCTGCTGTTGTTCTGGC	0.463													27	55					0	0	1	0	0	C	115304314	G	C	115304314	3	2	220	1	0	0	0	0	1	0	0	0	399	1377	48	5	783	5	AGTR2	23	115304314	Missense_Mutation	SNP	G	TCGA-FG-A70Y-01A-12D-A34J-08	5607537	115304314	39966246	27	25934											
MAP7D3	79649	broad.mit.edu	37	X	135313000	135313000	+	Silent	SNP	A	A	G			TCGA-FG-A70Y-01A-12D-A34J-08	TCGA-FG-A70Y-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	700928a2-4795-4590-9bab-63c38f8503f0	d647c017-124c-4573-872b-dab5575f2346	g.chrX:135313000A>G	ENST00000316077.9	-	9	1759	c.1539T>C	c.(1537-1539)acT>acC	p.T513T	MAP7D3_ENST00000370661.1_Silent_p.T478T|MAP7D3_ENST00000370663.5_Silent_p.T495T	NM_024597.3	NP_078873.2	Q8IWC1	MA7D3_HUMAN	MAP7 domain containing 3	513						cytoplasm|spindle				central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1)	44	Acute lymphoblastic leukemia(192;0.000127)					CTGCTTACTTAGTGCTGATGG	0.393													15	57					0	0	1	0	0	G	135313000	A	G	135313000	2	3	220	1	0	0	0	0	0	0	0	1	9319	407	15	3		3	MAP7D3	23	135313000	Silent	SNP	A	TCGA-FG-A70Y-01A-12D-A34J-08	20008686	135313000	19957560	28	25935											
OR4F5	79501	broad.mit.edu	37	1	69557	69557	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chr1:69557C>T	ENST00000335137.3	+	1	467	c.467C>T	c.(466-468)gCc>gTc	p.A156V		NM_001005484.1	NP_001005484.1	Q8NH21	OR4F5_HUMAN	olfactory receptor, family 4, subfamily F, member 5	156					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			lung(1)|ovary(1)	2	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;3.48e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.21e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000469)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		TTGGCGTTTGCCGTGCACTTA	0.468													7	602					0	0	1	0	0	T	69557	C	T	69557	3	4	221	1	0	0	0	0	1	0	0	0	11113	739	26	2	469	2	OR4F5	1	69557	Missense_Mutation	SNP	C	TCGA-FG-A70Z-01A-12D-A33T-08		69557	249181064	1	25936											
GRHL3	57822	broad.mit.edu	37	1	24663605	24663605	+	Missense_Mutation	SNP	A	A	G			TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chr1:24663605A>G	ENST00000361548.4	+	5	880	c.650A>G	c.(649-651)gAa>gGa	p.E217G	GRHL3_ENST00000342072.4_Missense_Mutation_p.E124G|GRHL3_ENST00000236255.4_Missense_Mutation_p.E222G|GRHL3_ENST00000350501.5_Missense_Mutation_p.E217G|GRHL3_ENST00000356046.2_Missense_Mutation_p.E171G	NM_198173.2	NP_937816.1	Q8TE85	GRHL3_HUMAN	grainyhead-like 3 (Drosophila)	217					regulation of actin cytoskeleton organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143)		ACCTCCCCGGAACCCCCATGT	0.567													32	77					0	0	1	0	0	G	24663605	A	G	24663605	3	3	221	1	0	0	0	0	1	0	0	0	6806	246	9	3	704	3	GRHL3	1	24663605	Missense_Mutation	SNP	A	TCGA-FG-A70Z-01A-12D-A33T-08	24594048	24663605	224587016	2	25937											
SYTL1	84958	broad.mit.edu	37	1	27675627	27675627	+	Silent	SNP	G	G	A			TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chr1:27675627G>A	ENST00000543823.1	+	5	978	c.516G>A	c.(514-516)gcG>gcA	p.A172A	SYTL1_ENST00000490170.1_3'UTR|SYTL1_ENST00000318074.5_Silent_p.A160A			Q8IYJ3	SYTL1_HUMAN	synaptotagmin-like 1	172					exocytosis|intracellular protein transport	extrinsic to plasma membrane|melanosome|soluble fraction	neurexin binding|Rab GTPase binding			NS(1)|large_intestine(4)|lung(5)|ovary(1)|urinary_tract(1)	12		Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.0115)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0908)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.5e-28)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.0013)|KIRC - Kidney renal clear cell carcinoma(1967;0.00158)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		CTGAGGAGGCGTCCCAGGCCC	0.612													36	75					0	0	1	0	0	A	27675627	G	A	27675627	2	1	221	1	0	0	0	0	0	0	0	1	15539	1132	40	1		1	SYTL1	1	27675627	Silent	SNP	G	TCGA-FG-A70Z-01A-12D-A33T-08	3012022	27675627	221574994	3	25938											
HORMAD1	84072	broad.mit.edu	37	1	150676784	150676784	+	Silent	SNP	C	C	T			TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chr1:150676784C>T	ENST00000368993.2	-	11	945	c.840G>A	c.(838-840)caG>caA	p.Q280Q	HORMAD1_ENST00000368995.4_Silent_p.Q200Q|HORMAD1_ENST00000361824.2_Silent_p.Q280Q|HORMAD1_ENST00000322343.7_Silent_p.Q273Q			Q86X24	HORM1_HUMAN	HORMA domain containing 1	280					blastocyst development|cell differentiation|meiotic DNA double-strand break formation|meiotic recombination checkpoint|meiotic sister chromatid cohesion|mitosis|oogenesis|regulation of homologous chromosome segregation|spermatogenesis|synaptonemal complex assembly	chromosome|nucleus				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(3)	16	all_cancers(9;3.23e-52)|all_epithelial(9;4.68e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.0009)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;2.32e-23)|all cancers(9;5.21e-23)|OV - Ovarian serous cystadenocarcinoma(6;6.72e-15)|BRCA - Breast invasive adenocarcinoma(12;0.000479)|LUSC - Lung squamous cell carcinoma(543;0.171)			GGTTTTTTTCCTGTTCTTCCA	0.308													27	71					0	0	1	0	0	T	150676784	C	T	150676784	2	4	221	1	0	0	0	0	0	0	0	1	7327	680	24	2		2	HORMAD1	1	150676784	Silent	SNP	C	TCGA-FG-A70Z-01A-12D-A33T-08	123001157	150676784	98573837	4	25939											
SEC16B	89866	broad.mit.edu	37	1	177930832	177930832	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chr1:177930832C>T	ENST00000308284.6	-	6	769	c.680G>A	c.(679-681)cGt>cAt	p.R227H	RP4-798P15.3_ENST00000354921.3_RNA|SEC16B_ENST00000464631.2_Missense_Mutation_p.R227H	NM_033127.2	NP_149118.2	Q96JE7	SC16B_HUMAN	SEC16 homolog B (S. cerevisiae)	227					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane		p.R227H(1)		central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						ACCAGACTCACGCTGCTGGAG	0.512													20	32					0	0	1	0	0	T	177930832	C	T	177930832	3	4	221	1	0	0	0	0	1	0	0	0	14041	536	19	1	2586	1	SEC16B	1	177930832	Missense_Mutation	SNP	C	TCGA-FG-A70Z-01A-12D-A33T-08	27254048	177930832	71319789	5	25940											
HMCN1	83872	broad.mit.edu	37	1	186114580	186114580	+	Missense_Mutation	SNP	G	G	A	rs141397809		TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chr1:186114580G>A	ENST00000271588.4	+	92	14541	c.14312G>A	c.(14311-14313)cGg>cAg	p.R4771Q	HMCN1_ENST00000367492.2_Missense_Mutation_p.R4771Q	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	4771	TSP type-1 5.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						ACATGCAGCCGGACGTGTAAC	0.552													42	56					0	0	1	0	0	A	186114580	G	A	186114580	3	1	221	1	0	0	0	0	1	0	0	0	7261	1116	39	1	14678	1	HMCN1	1	186114580	Missense_Mutation	SNP	G	TCGA-FG-A70Z-01A-12D-A33T-08	8183748	186114580	63136041	6	25941											
PRG4	10216	broad.mit.edu	37	1	186280588	186280588	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chr1:186280588G>A	ENST00000445192.2	+	10	3698	c.3653G>A	c.(3652-3654)cGt>cAt	p.R1218H	PRG4_ENST00000367483.4_Missense_Mutation_p.R1177H|PRG4_ENST00000367484.3_Missense_Mutation_p.R747H|PRG4_ENST00000367485.4_Missense_Mutation_p.R1125H|PRG4_ENST00000367486.3_Missense_Mutation_p.R1175H	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	1218	Hemopexin-like 2.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CAGTACTGGCGTTTTACCAAT	0.353													69	171					0	0	1	0	0	A	186280588	G	A	186280588	3	1	221	1	0	0	0	0	1	0	0	0	12533	1145	40	1	3687	1	PRG4	1	186280588	Missense_Mutation	SNP	G	TCGA-FG-A70Z-01A-12D-A33T-08	166008	186280588	62970033	7	25942											
SLC35F3	148641	broad.mit.edu	37	1	234367197	234367197	+	Silent	SNP	G	G	A			TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chr1:234367197G>A	ENST00000366618.3	+	3	463	c.318G>A	c.(316-318)gcG>gcA	p.A106A	SLC35F3_ENST00000366617.3_Silent_p.A37A	NM_173508.2	NP_775779.1	Q8IY50	S35F3_HUMAN	solute carrier family 35, member F3	37					transport	integral to membrane				breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|urinary_tract(1)	32	Ovarian(103;0.0454)	all_cancers(173;0.145)|Prostate(94;0.0885)	OV - Ovarian serous cystadenocarcinoma(106;0.00531)			CGGGCCCGGCGGAGGCCCAGG	0.736													24	30					0	0	1	0	0	A	234367197	G	A	234367197	2	1	221	1	0	0	0	0	0	0	0	1	14645	1103	39	1		1	SLC35F3	1	234367197	Silent	SNP	G	TCGA-FG-A70Z-01A-12D-A33T-08	48086609	234367197	14883424	8	25943											
ZP4	57829	broad.mit.edu	37	1	238053178	238053178	+	Missense_Mutation	SNP	A	A	G			TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chr1:238053178A>G	ENST00000366570.4	-	3	547	c.389T>C	c.(388-390)aTg>aCg	p.M130T	RP11-193H5.1_ENST00000450451.1_RNA	NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4	130					acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity			breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			TAGAAGATCCATAGGACACTT	0.552													123	243					0	0	1	0	0	G	238053178	A	G	238053178	3	3	221	1	0	0	0	0	1	0	0	0	18260	217	8	3	1273	3	ZP4	1	238053178	Missense_Mutation	SNP	A	TCGA-FG-A70Z-01A-12D-A33T-08	3685981	238053178	11197443	9	25944											
OR14I1	401994	broad.mit.edu	37	1	248845349	248845349	+	Missense_Mutation	SNP	C	C	T	rs139712934		TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chr1:248845349C>T	ENST00000342623.3	-	1	280	c.257G>A	c.(256-258)cGc>cAc	p.R86H		NM_001004734.1	NP_001004734.1	A6ND48	O14I1_HUMAN	olfactory receptor, family 14, subfamily I, member 1	86					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(4)|large_intestine(2)|lung(24)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	35						GGAGCTTCTGCGAGTCAGGGA	0.473													20	37					0	0	1	0	0	T	248845349	C	T	248845349	3	4	221	1	0	0	0	0	1	0	0	0	10995	768	27	1	682	1	OR14I1	1	248845349	Missense_Mutation	SNP	C	TCGA-FG-A70Z-01A-12D-A33T-08	10792171	248845349	405272	10	25945											
NCKAP5	344148	broad.mit.edu	37	2	133541329	133541329	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chr2:133541329G>A	ENST00000409261.1	-	14	3428	c.3055C>T	c.(3055-3057)Cga>Tga	p.R1019*	NCKAP5_ENST00000317721.6_Nonsense_Mutation_p.R1019*|NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000409213.1_Intron	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	1019							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						GCAGGGCATCGGGTTTGAATG	0.567													19	36					0	0	1	0	0	A	133541329	G	A	133541329	4	1	221	1	0	0	0	0	0	1	0	0	10270	1124	39	1	2702	1	NCKAP5	2	133541329	Nonsense_Mutation	SNP	G	TCGA-FG-A70Z-01A-12D-A33T-08		133541329	109658044	11	25946											
SCN2A	6326	broad.mit.edu	37	2	166246283	166246283	+	Silent	SNP	C	C	T			TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chr2:166246283C>T	ENST00000357398.3	+	27	6257	c.5967C>T	c.(5965-5967)gaC>gaT	p.D1989D	SCN2A_ENST00000375427.2_Silent_p.D1989D|SCN2A_ENST00000283256.6_Silent_p.D1989D|SCN2A_ENST00000375437.2_Silent_p.D1989D			Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	1989					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	TTGAAAAAGACAAATCAGAAA	0.373													32	59					0	0	1	0	0	T	166246283	C	T	166246283	2	4	221	1	0	0	0	0	0	0	0	1	13970	477	17	2		2	SCN2A	2	166246283	Silent	SNP	C	TCGA-FG-A70Z-01A-12D-A33T-08	32704954	166246283	76953090	12	25947											
TTN	7273	broad.mit.edu	37	2	179423251	179423251	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chr2:179423251C>T	ENST00000589042.1	-	327	87159	c.86935G>A	c.(86935-86937)Gtt>Att	p.V28979I	TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V20106I|TTN_ENST00000342992.6_Missense_Mutation_p.V26411I|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.V27338I|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V20039I|TTN_ENST00000460472.2_Missense_Mutation_p.V19914I|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592630.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	27338	Fibronectin type-III 111.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGTGCTTCAACGACATAGTGT	0.428													25	44					0	0	1	0	0	T	179423251	C	T	179423251	3	4	221	1	0	0	0	0	1	0	0	0	16797	536	19	1	21188	1	TTN	2	179423251	Missense_Mutation	SNP	C	TCGA-FG-A70Z-01A-12D-A33T-08	13176968	179423251	63776122	13	25948											
TTN	7273	broad.mit.edu	37	2	179650418	179650418	+	Missense_Mutation	SNP	G	G	A	rs149155733		TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chr2:179650418G>A	ENST00000589042.1	-	15	2646	c.2422C>T	c.(2422-2424)Cgc>Tgc	p.R808C	TTN_ENST00000342175.6_Missense_Mutation_p.R762C|TTN_ENST00000342992.6_Missense_Mutation_p.R808C|TTN_ENST00000591111.1_Missense_Mutation_p.R808C|TTN_ENST00000359218.5_Missense_Mutation_p.R762C|TTN_ENST00000460472.2_Missense_Mutation_p.R762C|TTN_ENST00000360870.5_Missense_Mutation_p.R808C	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	808							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTGCGGGGGCGTTTATCCACA	0.398													50	117					0	0	1	0	0	A	179650418	G	A	179650418	3	1	221	1	0	0	0	0	1	0	0	0	16797	1145	40	1	108958	1	TTN	2	179650418	Missense_Mutation	SNP	G	TCGA-FG-A70Z-01A-12D-A33T-08	227167	179650418	63548955	14	25949											
FGD5	152273	broad.mit.edu	37	3	14861995	14861995	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chr3:14861995G>A	ENST00000285046.5	+	1	1527	c.1417G>A	c.(1417-1419)Gcg>Acg	p.A473T	FGD5_ENST00000543601.1_Missense_Mutation_p.A232T	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	473					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						CCTGGTTCCCGCGGACAGGAA	0.642													33	67					0	0	1	0	0	A	14861995	G	A	14861995	3	1	221	1	0	0	0	0	1	0	0	0	5869	1087	38	1	1419	1	FGD5	3	14861995	Missense_Mutation	SNP	G	TCGA-FG-A70Z-01A-12D-A33T-08		14861995	183160435	15	25950											
MUC7	4589	broad.mit.edu	37	4	71347070	71347070	+	Silent	SNP	A	A	G			TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chr4:71347070A>G	ENST00000413702.1	+	4	897	c.609A>G	c.(607-609)ccA>ccG	p.P203P	MUC7_ENST00000304887.5_Silent_p.P203P|MUC7_ENST00000456088.1_Silent_p.P203P	NM_001145006.1	NP_001138478.1	Q8TAX7	MUC7_HUMAN	mucin 7, secreted	203	Thr-rich.					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)			AAGCTCCACCATCTTCCTCAG	0.587													5	217					0	0	1	0	0	G	71347070	A	G	71347070	2	3	221	1	0	0	0	0	0	0	0	1	10029	204	8	3		3	MUC7	4	71347070	Silent	SNP	A	TCGA-FG-A70Z-01A-12D-A33T-08		71347070	119807206	16	25951											
HSD17B11	51170	broad.mit.edu	37	4	88312103	88312103	+	Silent	SNP	C	C	A			TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chr4:88312103C>A	ENST00000358290.4	-	1	435	c.120G>T	c.(118-120)ctG>ctT	p.L40L	HSD17B11_ENST00000507286.1_Silent_p.L40L	NM_016245.3	NP_057329.2	Q8NBQ5	DHB11_HUMAN	hydroxysteroid (17-beta) dehydrogenase 11	40					androgen catabolic process|steroid biosynthetic process	cytoplasm|extracellular region	binding|estradiol 17-beta-dehydrogenase activity			cervix(1)|endometrium(4)|kidney(2)|lung(2)|ovary(2)	11		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000339)		CTCCTGTAATCAGCACGATTT	0.453													54	116					6.4308e-24	6.49447e-24	1	1	0	A	88312103	C	A	88312103	2	1	221	1	0	0	0	0	0	0	0	1	7421	813	29	5		5	HSD17B11	4	88312103	Silent	SNP	C	TCGA-FG-A70Z-01A-12D-A33T-08	16965033	88312103	102842173	17	25952											
ENPEP	2028	broad.mit.edu	37	4	111427803	111427803	+	Missense_Mutation	SNP	A	A	G			TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chr4:111427803A>G	ENST00000265162.5	+	4	1271	c.929A>G	c.(928-930)tAt>tGt	p.Y310C		NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	310					cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)	CTTACAATTTATGTCCAGCCA	0.294													34	57					0	0	1	0	0	G	111427803	A	G	111427803	3	3	221	1	0	0	0	0	1	0	0	0	5156	449	16	3	943	3	ENPEP	4	111427803	Missense_Mutation	SNP	A	TCGA-FG-A70Z-01A-12D-A33T-08	23115700	111427803	79726473	18	25953											
RANBP3L	202151	broad.mit.edu	37	5	36301465	36301465	+	Silent	SNP	G	G	T			TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chr5:36301465G>T	ENST00000296604.3	-	1	539	c.54C>A	c.(52-54)acC>acA	p.T18T	RANBP3L_ENST00000502994.1_Silent_p.T18T|RANBP3L_ENST00000515759.1_Silent_p.T18T	NM_145000.3	NP_659437.3	Q86VV4	RNB3L_HUMAN	RAN binding protein 3-like	18					intracellular transport					endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1)	16	all_lung(31;4.52e-05)		Epithelial(62;0.0543)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.149)|Colorectal(62;0.202)			TCAGTTTACAGGTGTGCAAAC	0.527													59	120					3.00467e-41	3.06476e-41	1	1	0	T	36301465	G	T	36301465	2	4	221	1	0	0	0	0	0	0	0	1	13082	987	35	4		4	RANBP3L	5	36301465	Silent	SNP	G	TCGA-FG-A70Z-01A-12D-A33T-08		36301465	144613795	19	25954											
PLCXD3	345557	broad.mit.edu	37	5	41382519	41382519	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chr5:41382519C>T	ENST00000377801.3	-	2	295	c.221G>A	c.(220-222)cGg>cAg	p.R74Q	PLCXD3_ENST00000328457.3_Missense_Mutation_p.R74Q			Q63HM9	PLCX3_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 3	74	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						TAACCATTTCCGCATGAGCTT	0.468													45	92					0	0	1	0	0	T	41382519	C	T	41382519	3	4	221	1	0	0	0	0	1	0	0	0	12091	652	23	1	752	1	PLCXD3	5	41382519	Missense_Mutation	SNP	C	TCGA-FG-A70Z-01A-12D-A33T-08	5081054	41382519	139532741	20	25955											
GPBP1	65056	broad.mit.edu	37	5	56542308	56542308	+	Silent	SNP	A	A	G			TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chr5:56542308A>G	ENST00000424459.3	+	8	1994	c.720A>G	c.(718-720)acA>acG	p.T240T	GPBP1_ENST00000514387.2_Silent_p.T49T|GPBP1_ENST00000538707.1_Silent_p.T227T|GPBP1_ENST00000511209.1_Silent_p.T227T|GPBP1_ENST00000264779.6_Silent_p.T227T|GPBP1_ENST00000454432.2_Silent_p.T240T|GPBP1_ENST00000506184.2_Silent_p.T220T	NM_022913.3	NP_075064.1	Q86WP2	GPBP1_HUMAN	GC-rich promoter binding protein 1	220					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	19		Lung NSC(810;0.000861)|Prostate(74;0.0305)|Breast(144;0.222)		OV - Ovarian serous cystadenocarcinoma(10;7.64e-39)		CTCCACCTACAAAAGTAAGTT	0.373													18	39					0	0	1	0	0	G	56542308	A	G	56542308	2	3	221	1	0	0	0	0	0	0	0	1	6635	117	5	3		3	GPBP1	5	56542308	Silent	SNP	A	TCGA-FG-A70Z-01A-12D-A33T-08	15159789	56542308	124372952	21	25956											
PCDHGC3	5098	broad.mit.edu	37	5	140857255	140857255	+	Silent	SNP	C	C	T			TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chr5:140857255C>T	ENST00000308177.3	+	1	1676	c.1572C>T	c.(1570-1572)ccC>ccT	p.P524P	PCDHGA11_ENST00000398587.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_002588.2|NM_032402.1	NP_002579.2|NP_115778.1														breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(2)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTTAGTGCCCCTAGACTATG	0.488													38	91					0	0	1	0	0	T	140857255	C	T	140857255	2	4	221	1	0	0	0	0	0	0	0	1	11616	610	22	2		2	PCDHGC3	5	140857255	Silent	SNP	C	TCGA-FG-A70Z-01A-12D-A33T-08	84314947	140857255	40058005	22	25957											
KIF4B	285643	broad.mit.edu	37	5	154397004	154397004	+	Silent	SNP	G	G	A			TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chr5:154397004G>A	ENST00000435029.4	+	1	3745	c.3585G>A	c.(3583-3585)tcG>tcA	p.S1195S		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	1195	Globular (By similarity).|Interaction with PRC1 (By similarity).				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TCCCAGAGTCGAAACATGGAG	0.507													19	53					0	0	1	0	0	A	154397004	G	A	154397004	2	1	221	1	0	0	0	0	0	0	0	1	8346	1045	37	1		1	KIF4B	5	154397004	Silent	SNP	G	TCGA-FG-A70Z-01A-12D-A33T-08	13539749	154397004	26518256	23	25958											
ATP10B	23120	broad.mit.edu	37	5	160042950	160042950	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chr5:160042950G>A	ENST00000327245.5	-	17	3394	c.2548C>T	c.(2548-2550)Cgg>Tgg	p.R850W	CTC-348L5.1_ENST00000523598.1_RNA	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	850					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GCCCATCTCCGGAAGTCCTCT	0.517													33	66					0	0	1	0	0	A	160042950	G	A	160042950	3	1	221	1	0	0	0	0	1	0	0	0	1116	1115	39	1	1877	1	ATP10B	5	160042950	Missense_Mutation	SNP	G	TCGA-FG-A70Z-01A-12D-A33T-08	5645946	160042950	20872310	24	25959											
MUC21	394263	broad.mit.edu	37	6	30954953	30954953	+	Missense_Mutation	SNP	A	A	G			TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chr6:30954953A>G	ENST00000376296.3	+	2	1242	c.1001A>G	c.(1000-1002)gAg>gGg	p.E334G	MUC21_ENST00000486149.2_5'UTR	NM_001010909.2	NP_001010909.2	Q5SSG8	MUC21_HUMAN	mucin 21, cell surface associated	334	28 X 15 AA approximate tandem repeats.|Ser-rich.					integral to membrane|plasma membrane				NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						ACCAACTCTGAGTCCAGCACG	0.622													5	455					0	0	1	0	0	G	30954953	A	G	30954953	3	3	221	1	0	0	0	0	1	0	0	0	10025	304	11	3	1007	3	MUC21	6	30954953	Missense_Mutation	SNP	A	TCGA-FG-A70Z-01A-12D-A33T-08		30954953	140160114	25	25960											
GRM4	2914	broad.mit.edu	37	6	34029770	34029770	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chr6:34029770G>A	ENST00000538487.2	-	4	1215	c.772C>T	c.(772-774)Cgg>Tgg	p.R258W	GRM4_ENST00000545715.1_5'UTR|GRM4_ENST00000374177.3_Missense_Mutation_p.R189W|GRM4_ENST00000455714.2_Missense_Mutation_p.R118W|GRM4_ENST00000609222.1_Missense_Mutation_p.R125W|GRM4_ENST00000535756.1_Missense_Mutation_p.R125W|GRM4_ENST00000544773.2_Missense_Mutation_p.R89W|GRM4_ENST00000374181.4_Missense_Mutation_p.R258W	NM_000841.2|NM_001256811.1	NP_000832.1|NP_001243740.1	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4						activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48					L-Glutamic Acid(DB00142)	TTGGGCTCCCGTGGTATCTTC	0.617													43	84					0	0	1	0	0	A	34029770	G	A	34029770	3	1	221	1	0	0	0	0	1	0	0	0	6840	1144	40	1	1998	1	GRM4	6	34029770	Missense_Mutation	SNP	G	TCGA-FG-A70Z-01A-12D-A33T-08	3074817	34029770	137085297	26	25961											
EGFR	1956	broad.mit.edu	37	7	55221822	55221822	+	Missense_Mutation	SNP	C	C	T	rs149840192		TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chr7:55221822C>T	ENST00000275493.2	+	7	1043	c.866C>T	c.(865-867)gCc>gTc	p.A289V	EGFR_ENST00000342916.3_Missense_Mutation_p.A289V|EGFR_ENST00000344576.2_Missense_Mutation_p.A289V|EGFR_ENST00000442591.1_Missense_Mutation_p.A289V|EGFR_ENST00000420316.2_Missense_Mutation_p.A289V|EGFR_ENST00000454757.2_Missense_Mutation_p.A236V|EGFR_ENST00000455089.1_Missense_Mutation_p.A244V	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	289					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.A289V(20)|p.A289D(3)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	AGCTTTGGTGCCACCTGCGTG	0.592		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			701	96					0	0	1	0	0	T	55221822	C	T	55221822	3	4	221	1	0	0	0	0	1	0	0	0	4993	739	26	2	892	2	EGFR	7	55221822	Missense_Mutation	SNP	C	TCGA-FG-A70Z-01A-12D-A33T-08		55221822	103916841	27	25962											
EGFR	1956	broad.mit.edu	37	7	55273104	55273104	+	Nonsense_Mutation	SNP	C	C	T	rs145189325		TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chr7:55273104C>T	ENST00000275493.2	+	28	3604	c.3427C>T	c.(3427-3429)Cag>Tag	p.Q1143*	EGFR_ENST00000442591.1_Intron|EGFR_ENST00000454757.2_Nonsense_Mutation_p.Q1090*	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	1143					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	CAACACTGTCCAGCCCACCTG	0.592		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			741	119					0	0	1	0	0	T	55273104	C	T	55273104	4	4	221	1	0	0	0	0	0	1	0	0	4993	595	21	2	3801	2	EGFR	7	55273104	Nonsense_Mutation	SNP	C	TCGA-FG-A70Z-01A-12D-A33T-08	51282	55273104	103865559	28	25963											
SEPT14	346288	broad.mit.edu	37	7	55902220	55902220	+	Silent	SNP	C	C	T			TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chr7:55902220C>T	ENST00000388975.3	-	6	734	c.618G>A	c.(616-618)acG>acA	p.T206T		NM_207366.2	NP_997249.2	Q6ZU15	SEP14_HUMAN	septin 14	206					cell cycle|cell division	septin complex	GTP binding|protein binding	p.T206T(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|skin(2)	23	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			TATTCTTAAACGTCTGTAAAT	0.348													19	68					0	0	1	0	0	T	55902220	C	T	55902220	2	4	221	1	0	0	0	0	0	0	0	1	14117	523	19	1		1	SEPT14	7	55902220	Silent	SNP	C	TCGA-FG-A70Z-01A-12D-A33T-08	629116	55902220	103236443	29	25964											
STAG3L4	64940	broad.mit.edu	37	7	66785180	66785180	+	RNA	SNP	G	G	A			TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chr7:66785180G>A	ENST00000416602.2	+	0	810					NR_040586.1		Q8TBR4	STG34_HUMAN												endometrium(2)|lung(5)	7		Lung NSC(55;0.0839)|all_lung(88;0.181)				AAACAATACAGCTATCCAAGG	0.368													4	85					0	0	1	0	0	A	66785180	G	A	66785180	1	1	221	0	1	0	0	0	0	0	0	0	15303	986	34	2		2	STAG3L4	7	66785180	RNA	SNP	G	TCGA-FG-A70Z-01A-12D-A33T-08	10882960	66785180	92353483	30	25965											
GPR20	2843	broad.mit.edu	37	8	142367776	142367776	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chr8:142367776C>T	ENST00000377741.3	-	2	338	c.248G>A	c.(247-249)cGg>cAg	p.R83Q		NM_005293.2	NP_005284.2	Q99678	GPR20_HUMAN	G protein-coupled receptor 20	83						integral to plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(3)|lung(4)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	15	all_cancers(97;4.32e-16)|all_epithelial(106;6.61e-14)|Lung NSC(106;9.4e-06)|all_lung(105;1.35e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0415)			TGTCTTGGCCCGGGTGCGGCA	0.652													20	71					0	0	1	0	0	T	142367776	C	T	142367776	3	4	221	1	0	0	0	0	1	0	0	0	6720	652	23	1	832	1	GPR20	8	142367776	Missense_Mutation	SNP	C	TCGA-FG-A70Z-01A-12D-A33T-08		142367776	3996246	31	25966											
SLC28A3	64078	broad.mit.edu	37	9	86903095	86903095	+	Splice_Site	SNP	T	T	A			TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chr9:86903095T>A	ENST00000376238.4	-	12	1199		c.e12-2		SLC28A3_ENST00000537648.1_Splice_Site|RP11-380F14.2_ENST00000419815.1_RNA	NM_001199633.1|NM_022127.2	NP_001186562.1|NP_071410.1	Q9HAS3	S28A3_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 3						nucleobase, nucleoside and nucleotide metabolic process	integral to membrane|plasma membrane	nucleoside binding			endometrium(2)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						GGATGGAACCTGCAATTTCAG	0.468													65	112					0	0	1	0	0	A	86903095	T	A	86903095	5	1	221	1	0	0	0	0	0	0	1	0	14588	1594	55	5	955	5	SLC28A3	9	86903095	Splice_Site	SNP	T	TCGA-FG-A70Z-01A-12D-A33T-08		86903095	54310336	32	25967											
COL15A1	1306	broad.mit.edu	37	9	101748113	101748113	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chr9:101748113C>T	ENST00000375001.3	+	3	790	c.367C>T	c.(367-369)Cgg>Tgg	p.R123W		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	123	TSP N-terminal.				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				CCTGGGCCTGCGGCTCTCAGG	0.632													4	127					0	0	1	0	0	T	101748113	C	T	101748113	3	4	221	1	0	0	0	0	1	0	0	0	3695	759	27	1	377	1	COL15A1	9	101748113	Missense_Mutation	SNP	C	TCGA-FG-A70Z-01A-12D-A33T-08	14845018	101748113	39465318	33	25968											
RXRA	6256	broad.mit.edu	37	9	137309089	137309089	+	Silent	SNP	G	G	A			TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chr9:137309089G>A	ENST00000540193.1	+	4	1328	c.405G>A	c.(403-405)gtG>gtA	p.V135V	RXRA_ENST00000356384.4_3'UTR|RXRA_ENST00000481739.1_Silent_p.V232V			P19793	RXRA_HUMAN	retinoid X receptor, alpha	232					cellular lipid metabolic process|cholesterol metabolic process|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid|vitamin metabolic process	nuclear chromatin|nucleoplasm	enzyme binding|ligand-regulated transcription factor activity|protein heterodimerization activity|retinoic acid-responsive element binding|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|transcription coactivator activity|vitamin D receptor binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19				OV - Ovarian serous cystadenocarcinoma(145;4.66e-08)|Epithelial(140;6.72e-08)|all cancers(34;2.22e-07)	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)	ACATGCCGGTGGAGAGGATCC	0.647													39	78					0	0	1	0	0	A	137309089	G	A	137309089	2	1	221	1	0	0	0	0	0	0	0	1	13815	1335	47	2		2	RXRA	9	137309089	Silent	SNP	G	TCGA-FG-A70Z-01A-12D-A33T-08	35560976	137309089	3904342	34	25969											
QSOX2	169714	broad.mit.edu	37	9	139108552	139108552	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chr9:139108552G>A	ENST00000358701.5	-	9	1140	c.1103C>T	c.(1102-1104)cCg>cTg	p.P368L		NM_181701.3	NP_859052.3	Q6ZRP7	QSOX2_HUMAN	quiescin Q6 sulfhydryl oxidase 2	368					cell redox homeostasis	extracellular region|integral to membrane|nuclear membrane|plasma membrane	thiol oxidase activity	p.P368L(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)	22		Myeloproliferative disorder(178;0.0511)		Epithelial(140;7.78e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.55e-07)		CTTGACTGGCGGCCGTCCAGG	0.642													29	78					0	0	1	0	0	A	139108552	G	A	139108552	3	1	221	1	0	0	0	0	1	0	0	0	12936	1116	39	1	1009	1	QSOX2	9	139108552	Missense_Mutation	SNP	G	TCGA-FG-A70Z-01A-12D-A33T-08	1799463	139108552	2104879	35	25970											
HECTD2	143279	broad.mit.edu	37	10	93185044	93185044	+	Missense_Mutation	SNP	G	G	C			TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chr10:93185044G>C	ENST00000446394.1	+	2	245	c.145G>C	c.(145-147)Gac>Cac	p.D49H	HECTD2_ENST00000371681.4_Missense_Mutation_p.D49H|HECTD2_ENST00000298068.5_Missense_Mutation_p.D49H	NM_001284274.1	NP_001271203.1	Q5U5R9	HECD2_HUMAN	HECT domain containing E3 ubiquitin protein ligase 2	49					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity			breast(2)|endometrium(2)|kidney(4)|large_intestine(10)|lung(7)|skin(1)|urinary_tract(1)	27						TCAGGGTTTGGACAGAGGAGC	0.348													38	32					0	0	1	0	0	C	93185044	G	C	93185044	3	2	221	1	0	0	0	0	1	0	0	0	7081	1174	41	5	151	5	HECTD2	10	93185044	Missense_Mutation	SNP	G	TCGA-FG-A70Z-01A-12D-A33T-08		93185044	42349703	36	25971											
SORCS1	114815	broad.mit.edu	37	10	108357142	108357142	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chr10:108357142G>A	ENST00000263054.6	-	24	3239	c.3232C>T	c.(3232-3234)Cga>Tga	p.R1078*	SORCS1_ENST00000344440.6_Nonsense_Mutation_p.R1078*|SORCS1_ENST00000369698.1_Nonsense_Mutation_p.R613*	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	1078						integral to membrane	neuropeptide receptor activity|protein binding	p.R1078*(3)		breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		ACAAGGACTCGGACTCCTGGC	0.507													9	24					0	0	1	0	0	A	108357142	G	A	108357142	4	1	221	1	0	0	0	0	0	1	0	0	14984	1124	39	1	520	1	SORCS1	10	108357142	Nonsense_Mutation	SNP	G	TCGA-FG-A70Z-01A-12D-A33T-08	15172098	108357142	27177605	37	25972											
MUC5B	727897	broad.mit.edu	37	11	1267410	1267410	+	Silent	SNP	G	G	A			TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chr11:1267410G>A	ENST00000447027.1	+	31	9367	c.9309G>A	c.(9307-9309)ccG>ccA	p.P3103P	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000529681.1_Silent_p.P3100P			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3100	17 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398).	cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CCTCCACTCCGGAGACCACCC	0.647													54	134					0	0	1	0	0	A	1267410	G	A	1267410	2	1	221	1	0	0	0	0	0	0	0	1	10027	1103	39	1		1	MUC5B	11	1267410	Silent	SNP	G	TCGA-FG-A70Z-01A-12D-A33T-08		1267410	133739106	38	25973											
ALX4	60529	broad.mit.edu	37	11	44286677	44286677	+	Silent	SNP	G	G	A			TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chr11:44286677G>A	ENST00000329255.3	-	4	1066	c.963C>T	c.(961-963)tgC>tgT	p.C321C		NM_021926.3	NP_068745.2	Q9H161	ALX4_HUMAN	ALX homeobox 4	321					hair follicle development					central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	16						AGGGGACCACGCAGGCTGGCA	0.677													21	40					0	0	1	0	0	A	44286677	G	A	44286677	2	1	221	1	0	0	0	0	0	0	0	1	554	1079	38	1		1	ALX4	11	44286677	Silent	SNP	G	TCGA-FG-A70Z-01A-12D-A33T-08	43019267	44286677	90719839	39	25974											
RAPSN	5913	broad.mit.edu	37	11	47469404	47469404	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chr11:47469404C>T	ENST00000298854.2	-	2	704	c.491G>A	c.(490-492)cGc>cAc	p.R164H	RAPSN_ENST00000524487.1_Missense_Mutation_p.R164H|RAPSN_ENST00000529341.1_Missense_Mutation_p.R164H|RAPSN_ENST00000352508.3_Missense_Mutation_p.R164H	NM_005055.4	NP_005046.2	Q13702	RAPSN_HUMAN	receptor-associated protein of the synapse	164			R -> C (in CMS-ACHRD; reduced coclustering with acetylcholine receptor).		synaptic transmission, cholinergic	cell junction|cytoskeleton|postsynaptic membrane	acetylcholine receptor binding|zinc ion binding			endometrium(1)|large_intestine(3)|lung(6)|ovary(2)	12						GCAGCACACGCGGCACTCGAG	0.632													8	22					0	0	1	0	0	T	47469404	C	T	47469404	3	4	221	1	0	0	0	0	1	0	0	0	13103	768	27	1	775	1	RAPSN	11	47469404	Missense_Mutation	SNP	C	TCGA-FG-A70Z-01A-12D-A33T-08	3182727	47469404	87537112	40	25975											
RPS6KB2	6199	broad.mit.edu	37	11	67201678	67201678	+	Frame_Shift_Del	DEL	T	T	-			TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chr11:67201678delT	ENST00000312629.5	+	12	1024	c.979delT	c.(979-981)tttfs	p.F328fs	AP003419.16_ENST00000535922.1_RNA	NM_003952.2	NP_003943.2	Q9UBS0	KS6B2_HUMAN	ribosomal protein S6 kinase, 70kDa, polypeptide 2	328	Protein kinase.				nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of translational initiation|translation	nucleoplasm	ATP binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|salivary_gland(1)|stomach(2)	25			BRCA - Breast invasive adenocarcinoma(15;3.26e-06)			GAGACATCCCTTTTTCCGGCA	0.632													8	789	---	---	---	---						-	67201678	T	-	67201678	7	5	221	1	0	1	0	1	0	0	0	0	13709	1609	56	0	1025	0	RPS6KB2	11	67201678	Frame_Shift_Del	DEL	T	TCGA-FG-A70Z-01A-12D-A33T-08	19732274	67201678	67804838	41	25976											
RPS3	6188	broad.mit.edu	37	11	75113439	75113439	+	Missense_Mutation	SNP	C	C	G			TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chr11:75113439C>G	ENST00000531188.1	+	4	361	c.299C>G	c.(298-300)gCc>gGc	p.A100G	RPS3_ENST00000527446.1_Missense_Mutation_p.A100G|RPS3_ENST00000526608.1_Missense_Mutation_p.A88G|RPS3_ENST00000278572.6_Missense_Mutation_p.A116G|RPS3_ENST00000529285.1_3'UTR|RPS3_ENST00000524851.1_Missense_Mutation_p.A100G|RPS3_ENST00000530164.1_Missense_Mutation_p.A100G|RPS3_ENST00000534440.1_Intron	NM_001005.4|NM_001260506.1|NM_001260507.1	NP_000996.2|NP_001247435.1|NP_001247436.1	P23396	RS3_HUMAN	ribosomal protein S3	100					activation of caspase activity|endocrine pancreas development|induction of apoptosis|negative regulation of DNA repair|negative regulation of NF-kappaB transcription factor activity|response to DNA damage stimulus|translational elongation|translational initiation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleus|ruffle membrane	damaged DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|endonuclease activity|iron-sulfur cluster binding|mRNA binding|NF-kappaB binding|protein kinase binding|structural constituent of ribosome			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	6						TGTGCCATTGCCCAGGCAGAG	0.458													65	134					0	0	1	0	0	G	75113439	C	G	75113439	3	3	221	1	0	0	0	0	1	0	0	0	13695	739	26	5	313	5	RPS3	11	75113439	Missense_Mutation	SNP	C	TCGA-FG-A70Z-01A-12D-A33T-08	7911761	75113439	59893077	42	25977											
APOA4	337	broad.mit.edu	37	11	116691769	116691769	+	Silent	SNP	G	G	A			TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chr11:116691769G>A	ENST00000357780.3	-	3	1119	c.1005C>T	c.(1003-1005)gaC>gaT	p.D335D		NM_000482.3	NP_000473.2			apolipoprotein A-IV											cervix(1)|endometrium(2)|lung(10)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	20	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148)		GGCCTTCCACGTCCCCCGCAT	0.577													54	91					0	0	1	0	0	A	116691769	G	A	116691769	2	1	221	1	0	0	0	0	0	0	0	1	780	1136	40	1		1	APOA4	11	116691769	Silent	SNP	G	TCGA-FG-A70Z-01A-12D-A33T-08	41578330	116691769	18314747	43	25978											
OR8G1	26494	broad.mit.edu	37	11	124120628	124120628	+	RNA	SNP	T	T	G			TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chr11:124120628T>G	ENST00000341493.2	+	0	206				OR8G1_ENST00000534473.2_RNA	NM_001002905.1	NP_001002905.1	Q15617	OR8G1_HUMAN	olfactory receptor, family 8, subfamily G, member 1						sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity						Breast(109;0.0157)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;5.28e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0569)|Lung(307;0.174)		CTGTCCTTCATTGACTTCTGC	0.493													44	120					0	0	1	0	0	G	124120628	T	G	124120628	1	3	221	0	1	0	0	0	0	0	0	0	11281	1493	52	4		4	OR8G1	11	124120628	RNA	SNP	T	TCGA-FG-A70Z-01A-12D-A33T-08	7428859	124120628	10885888	44	25979											
TMTC1	83857	broad.mit.edu	37	12	29904597	29904597	+	Splice_Site	SNP	A	A	C			TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chr12:29904597A>C	ENST00000256062.5	-	5	1088		c.e5+1		TMTC1_ENST00000551659.1_Splice_Site|TMTC1_ENST00000552618.1_Splice_Site|TMTC1_ENST00000539277.1_Splice_Site|TMTC1_ENST00000381224.2_Splice_Site	NM_175861.3	NP_787057.2	Q8IUR5	TMTC1_HUMAN	transmembrane and tetratricopeptide repeat containing 1							integral to membrane	binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)					ccagcccagtacctcatcatg	0.567													26	68					0	0	1	0	0	C	29904597	A	C	29904597	5	2	221	1	0	0	0	0	0	0	1	0	16320	405	14	5	1764	5	TMTC1	12	29904597	Splice_Site	SNP	A	TCGA-FG-A70Z-01A-12D-A33T-08		29904597	103947298	45	25980											
ADAMTS20	80070	broad.mit.edu	37	12	43884232	43884232	+	Silent	SNP	G	G	A			TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chr12:43884232G>A	ENST00000389420.3	-	7	1082	c.1083C>T	c.(1081-1083)gaC>gaT	p.D361D	ADAMTS20_ENST00000553158.1_Silent_p.D361D	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	361	Peptidase M12B.					proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		ATGAACAAATGTCTTCCCTTA	0.229													5	16					0	0	1	0	0	A	43884232	G	A	43884232	2	1	221	1	0	0	0	0	0	0	0	1	265	1368	48	2		2	ADAMTS20	12	43884232	Silent	SNP	G	TCGA-FG-A70Z-01A-12D-A33T-08	13979635	43884232	89967663	46	25981											
BIN2	51411	broad.mit.edu	37	12	51717863	51717863	+	Silent	SNP	G	G	A			TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chr12:51717863G>A	ENST00000267012.4	-	1	85	c.24C>T	c.(22-24)ggC>ggT	p.G8G	BIN2_ENST00000603260.1_5'UTR|BIN2_ENST00000604560.1_Silent_p.G8G|BIN2_ENST00000544402.1_Intron|BIN2_ENST00000452142.2_Silent_p.G8G	NM_016293.2	NP_057377.2	Q9UBW5	BIN2_HUMAN	bridging integrator 2	8						cytoplasm	protein binding			NS(2)|breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(3)	31						GGCCGGCCGCGCCGCCTGCCT	0.706													28	71					0	0	1	0	0	A	51717863	G	A	51717863	2	1	221	1	0	0	0	0	0	0	0	1	1432	1074	38	1		1	BIN2	12	51717863	Silent	SNP	G	TCGA-FG-A70Z-01A-12D-A33T-08	7833631	51717863	82134032	47	25982											
MARS	4141	broad.mit.edu	37	12	57894183	57894183	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chr12:57894183C>T	ENST00000262027.5	+	10	1305	c.1171C>T	c.(1171-1173)Cac>Tac	p.H391Y	MARS_ENST00000447721.2_3'UTR|MARS_ENST00000315473.5_Missense_Mutation_p.H157Y	NM_004990.3	NP_004981.2	P56192	SYMC_HUMAN	methionyl-tRNA synthetase	391					methionyl-tRNA aminoacylation	cytosol	ATP binding|methionine-tRNA ligase activity|protein binding|tRNA binding			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	33			GBM - Glioblastoma multiforme(3;4.27e-41)		L-Methionine(DB00134)	GCGATGTGAGCACTGTGCTCG	0.567													69	1005					0	0	1	0	0	T	57894183	C	T	57894183	3	4	221	1	0	0	0	0	1	0	0	0	9366	710	25	2	1209	2	MARS	12	57894183	Missense_Mutation	SNP	C	TCGA-FG-A70Z-01A-12D-A33T-08	6176320	57894183	75957712	48	25983											
USP15	9958	broad.mit.edu	37	12	62777762	62777762	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chr12:62777762G>A	ENST00000280377.5	+	10	1289	c.1231G>A	c.(1231-1233)Gat>Aat	p.D411N	USP15_ENST00000353364.3_Missense_Mutation_p.D382N|USP15_ENST00000393654.3_Missense_Mutation_p.D386N	NM_001252078.1	NP_001239007.1	Q9Y4E8	UBP15_HUMAN	ubiquitin specific peptidase 15	411					protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37			GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)		AAAAGATGCAGATGGAAGGCC	0.333													19	383					0	0	1	0	0	A	62777762	G	A	62777762	3	1	221	1	0	0	0	0	1	0	0	0	17106	942	33	2	1178	2	USP15	12	62777762	Missense_Mutation	SNP	G	TCGA-FG-A70Z-01A-12D-A33T-08	4883579	62777762	71074133	49	25984											
USP15	9958	broad.mit.edu	37	12	62778055	62778055	+	Missense_Mutation	SNP	G	G	C			TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chr12:62778055G>C	ENST00000280377.5	+	11	1503	c.1445G>C	c.(1444-1446)aGa>aCa	p.R482T	USP15_ENST00000353364.3_Missense_Mutation_p.R453T|USP15_ENST00000393654.3_Missense_Mutation_p.R457T	NM_001252078.1	NP_001239007.1	Q9Y4E8	UBP15_HUMAN	ubiquitin specific peptidase 15	482					protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37			GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)		TACTTAGTTAGAATGGATCCA	0.313													9	203					0	0	1	0	0	C	62778055	G	C	62778055	3	2	221	1	0	0	0	0	1	0	0	0	17106	942	33	4	1396	4	USP15	12	62778055	Missense_Mutation	SNP	G	TCGA-FG-A70Z-01A-12D-A33T-08	293	62778055	71073840	50	25985											
KCNC2	3747	broad.mit.edu	37	12	75601452	75601452	+	Silent	SNP	G	G	A			TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chr12:75601452G>A	ENST00000549446.1	-	2	992	c.312C>T	c.(310-312)ttC>ttT	p.F104F	KCNC2_ENST00000540018.1_Silent_p.F104F|KCNC2_ENST00000341669.3_Silent_p.F104F|KCNC2_ENST00000393288.2_Silent_p.F104F|KCNC2_ENST00000550433.1_Silent_p.F104F|KCNC2_ENST00000548513.1_Silent_p.F104F|KCNC2_ENST00000298972.1_Silent_p.F104F|KCNC2_ENST00000350228.2_Silent_p.F104F	NM_001260497.1|NM_139137.3	NP_001247426.1|NP_631875.1	Q96PR1	KCNC2_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 2	104					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	54						GGTGCCGGTCGAAGAAGAACT	0.716													10	20					0	0	1	0	0	A	75601452	G	A	75601452	2	1	221	1	0	0	0	0	0	0	0	1	8059	1049	37	1		1	KCNC2	12	75601452	Silent	SNP	G	TCGA-FG-A70Z-01A-12D-A33T-08	12823397	75601452	58250443	51	25986											
WDHD1	11169	broad.mit.edu	37	14	55429521	55429521	+	Missense_Mutation	SNP	A	A	G			TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chr14:55429521A>G	ENST00000360586.3	-	20	2647	c.2582T>C	c.(2581-2583)gTt>gCt	p.V861A	WDHD1_ENST00000420358.2_Missense_Mutation_p.V738A|WDHD1_ENST00000359167.4_Missense_Mutation_p.V379A|WDHD1_ENST00000421192.1_Missense_Mutation_p.V738A	NM_007086.3	NP_009017.1	O75717	WDHD1_HUMAN	WD repeat and HMG-box DNA binding protein 1	861						cytoplasm|nucleoplasm	DNA binding			breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(2)	42						ATCTTCTTCAACTTGATTTCT	0.368													111	258					0	0	1	0	0	G	55429521	A	G	55429521	3	3	221	1	0	0	0	0	1	0	0	0	17331	43	2	3	835	3	WDHD1	14	55429521	Missense_Mutation	SNP	A	TCGA-FG-A70Z-01A-12D-A33T-08		55429521	51920019	52	25987											
AHNAK2	113146	broad.mit.edu	37	14	105413442	105413442	+	Silent	SNP	G	G	A			TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chr14:105413442G>A	ENST00000333244.5	-	7	8465	c.8346C>T	c.(8344-8346)gaC>gaT	p.D2782D	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2782						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GGGCCTGGACGTCCACCTCCA	0.602													158	338					0	0	1	0	0	A	105413442	G	A	105413442	2	1	221	1	0	0	0	0	0	0	0	1	412	1136	40	1		1	AHNAK2	14	105413442	Silent	SNP	G	TCGA-FG-A70Z-01A-12D-A33T-08	49983921	105413442	1936098	53	25988											
TJP1	7082	broad.mit.edu	37	15	30053922	30053922	+	Missense_Mutation	SNP	C	C	G			TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chr15:30053922C>G	ENST00000346128.6	-	7	1218	c.744G>C	c.(742-744)ttG>ttC	p.L248F	TJP1_ENST00000356107.6_Missense_Mutation_p.L248F|TJP1_ENST00000400011.2_Missense_Mutation_p.L252F|TJP1_ENST00000495972.2_Missense_Mutation_p.L248F|TJP1_ENST00000545208.2_Missense_Mutation_p.L248F	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN	tight junction protein 1	248	PDZ 2.				cell-cell junction assembly|cellular component disassembly involved in apoptosis	basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		ACCTTTCTATCAATGTCTTTG	0.338													31	53					0	0	1	0	0	G	30053922	C	G	30053922	3	3	221	1	0	0	0	0	1	0	0	0	15989	825	29	5	4590	5	TJP1	15	30053922	Missense_Mutation	SNP	C	TCGA-FG-A70Z-01A-12D-A33T-08		30053922	72477470	54	25989											
SLC7A5	8140	broad.mit.edu	37	16	87871512	87871512	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chr16:87871512G>A	ENST00000261622.4	-	7	1144	c.1079C>T	c.(1078-1080)cCc>cTc	p.P360L	SLC7A5_ENST00000565644.1_Missense_Mutation_p.P94L	NM_003486.5	NP_003477.4	Q01650	LAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, L system), member 5	360					blood coagulation|cell differentiation|cellular amino acid metabolic process|ion transport|leukocyte migration|nervous system development	apical plasma membrane|cytosol|integral to membrane	neutral amino acid transmembrane transporter activity|peptide antigen binding			endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(80;0.049)		GAGGATGGAGGGCAGGTGGCC	0.647													4	5					0	0	1	0	0	A	87871512	G	A	87871512	3	1	221	1	0	0	0	0	1	0	0	0	14755	1232	43	2	460	2	SLC7A5	16	87871512	Missense_Mutation	SNP	G	TCGA-FG-A70Z-01A-12D-A33T-08		87871512	2483241	55	25990											
RNF112	7732	broad.mit.edu	37	17	19318138	19318138	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chr17:19318138G>A	ENST00000461366.1	+	10	1279	c.1064G>A	c.(1063-1065)cGt>cAt	p.R355H		NM_007148.4	NP_009079.2	Q7Z5V9	Q7Z5V9_HUMAN	ring finger protein 112	355							GTP binding|GTPase activity|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|urinary_tract(1)	12						AAGCGAGCCCGTTGCTGCCTC	0.617													17	36					0	0	1	0	0	A	19318138	G	A	19318138	3	1	221	1	0	0	0	0	1	0	0	0	13478	1145	40	1	812	1	RNF112	17	19318138	Missense_Mutation	SNP	G	TCGA-FG-A70Z-01A-12D-A33T-08		19318138	61877072	56	25991											
GGNBP2	79893	broad.mit.edu	37	17	34941754	34941754	+	Missense_Mutation	SNP	A	A	T			TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chr17:34941754A>T	ENST00000304718.4	+	10	1556	c.1240A>T	c.(1240-1242)Agc>Tgc	p.S414C		NM_024835.3	NP_079111.1	Q9H3C7	GGNB2_HUMAN	gametogenetin binding protein 2	414					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasmic membrane-bounded vesicle				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)	38		Breast(25;0.00957)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		AGAAAATAGCAGCTGCAAAGC	0.378													55	111					0	0	1	0	0	T	34941754	A	T	34941754	3	4	221	1	0	0	0	0	1	0	0	0	6401	188	7	5	1274	5	GGNBP2	17	34941754	Missense_Mutation	SNP	A	TCGA-FG-A70Z-01A-12D-A33T-08	15623616	34941754	46253456	57	25992											
KRT25	147183	broad.mit.edu	37	17	38906791	38906791	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chr17:38906791G>A	ENST00000312150.4	-	6	1076	c.1016C>T	c.(1015-1017)gCg>gTg	p.A339V		NM_181534.3	NP_853512.1	Q7Z3Z0	K1C25_HUMAN	keratin 25	339	Coil 2.|Rod.					cytoplasm|intermediate filament	structural molecule activity	p.A339V(1)		endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4)	16		Breast(137;0.00526)				CTGGATCTGCGCCAGCTGCGC	0.562													120	243					0	0	1	0	0	A	38906791	G	A	38906791	3	1	221	1	0	0	0	0	1	0	0	0	8505	1087	38	1	348	1	KRT25	17	38906791	Missense_Mutation	SNP	G	TCGA-FG-A70Z-01A-12D-A33T-08	3965037	38906791	42288419	58	25993											
SLC6A16	28968	broad.mit.edu	37	19	49793874	49793874	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chr19:49793874C>T	ENST00000454748.3	-	11	2130	c.1929G>A	c.(1927-1929)tgG>tgA	p.W643*	SLC6A16_ENST00000335875.4_Nonsense_Mutation_p.W643*			Q9GZN6	S6A16_HUMAN	solute carrier family 6, member 16	643						integral to membrane|intracellular	neurotransmitter:sodium symporter activity			NS(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00099)|GBM - Glioblastoma multiforme(486;0.0336)		TGCTTGAGTCCCAGGACATGT	0.522													15	30					0	0	1	0	0	T	49793874	C	T	49793874	4	4	221	1	0	0	0	0	0	1	0	0	14734	624	22	2	289	2	SLC6A16	19	49793874	Nonsense_Mutation	SNP	C	TCGA-FG-A70Z-01A-12D-A33T-08		49793874	9335109	59	25994											
LAMA5	3911	broad.mit.edu	37	20	60909090	60909090	+	Missense_Mutation	SNP	C	C	A			TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chr20:60909090C>A	ENST00000252999.3	-	23	2811	c.2745G>T	c.(2743-2745)agG>agT	p.R915S		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	915	Domain IV 1 (domain IV B).				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TGGCCACGATCCTGGGCTGGG	0.672													12	26					0.00010058	0.00010058	1	1	0	A	60909090	C	A	60909090	3	1	221	1	0	0	0	0	1	0	0	0	8648	854	30	5	8574	5	LAMA5	20	60909090	Missense_Mutation	SNP	C	TCGA-FG-A70Z-01A-12D-A33T-08		60909090	2116430	60	25995											
RIPK4	54101	broad.mit.edu	37	21	43161696	43161696	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chr21:43161696C>T	ENST00000352483.2	-	9	1865	c.1801G>A	c.(1801-1803)Gtg>Atg	p.V601M	RIPK4_ENST00000544709.1_Missense_Mutation_p.V490M|RIPK4_ENST00000542057.1_Missense_Mutation_p.V490M|RIPK4_ENST00000332512.3_Missense_Mutation_p.V553M			Q96T11	Q96T11_HUMAN	receptor-interacting serine-threonine kinase 4	553						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						AGGATGCGCACGATATTCTCC	0.662													25	45					0	0	1	0	0	T	43161696	C	T	43161696	3	4	221	1	0	0	0	0	1	0	0	0	13435	536	19	1	701	1	RIPK4	21	43161696	Missense_Mutation	SNP	C	TCGA-FG-A70Z-01A-12D-A33T-08		43161696	4968199	61	25996											
TRPM2	7226	broad.mit.edu	37	21	45861583	45861583	+	Silent	SNP	C	C	T			TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chr21:45861583C>T	ENST00000397928.1	+	32	4840	c.4395C>T	c.(4393-4395)caC>caT	p.H1465H	TRPM2_ENST00000397932.2_Silent_p.H1515H|TRPM2_ENST00000300482.5_Silent_p.H1465H|TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000300481.9_Silent_p.H1411H	NM_003307.3	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	1465	Nudix hydrolase.					integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						AGAACCTGCACGCCTGCGACT	0.662													16	48					0	0	1	0	0	T	45861583	C	T	45861583	2	4	221	1	0	0	0	0	0	0	0	1	16647	535	19	1		1	TRPM2	21	45861583	Silent	SNP	C	TCGA-FG-A70Z-01A-12D-A33T-08	2699887	45861583	2268312	62	25997											
ADRBK2	157	broad.mit.edu	37	22	26057597	26057597	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chr22:26057597C>T	ENST00000324198.6	+	4	511	c.319C>T	c.(319-321)Caa>Taa	p.Q107*		NM_005160.3	NP_005151.2	P35626	ARBK2_HUMAN	adrenergic, beta, receptor kinase 2		N-terminal.|RGS.						ATP binding|beta-adrenergic receptor kinase activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(2)|skin(3)|stomach(2)	32					Adenosine triphosphate(DB00171)	CAGAAGTCGACAAATTTATGA	0.343													18	43					0	0	1	0	0	T	26057597	C	T	26057597	4	4	221	1	0	0	0	0	0	1	0	0	343	479	17	2	333	2	ADRBK2	22	26057597	Nonsense_Mutation	SNP	C	TCGA-FG-A70Z-01A-12D-A33T-08		26057597	25246969	63	25998											
ZNF41	7592	broad.mit.edu	37	X	47308233	47308233	+	Silent	SNP	G	G	T			TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chrX:47308233G>T	ENST00000377065.4	-	5	1575	c.936C>A	c.(934-936)ccC>ccA	p.P312P	ZNF41_ENST00000397050.2_Silent_p.P322P|ZNF41_ENST00000313116.7_Silent_p.P312P	NM_153380.2	NP_700359.1	P51814	ZNF41_HUMAN	zinc finger protein 41	354						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|upper_aerodigestive_tract(2)	24		all_lung(315;0.000129)				CATCAACCTGGGGTTTCTGGG	0.423													109	187					2.12943e-44	2.19396e-44	1	1	0	T	47308233	G	T	47308233	2	4	221	1	0	0	0	0	0	0	0	1	17946	1219	43	5		5	ZNF41	23	47308233	Silent	SNP	G	TCGA-FG-A70Z-01A-12D-A33T-08		47308233	107962327	64	25999											
RLIM	51132	broad.mit.edu	37	X	73811938	73811938	+	Silent	SNP	G	G	C	rs61754468	by1000genomes	TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chrX:73811938G>C	ENST00000332687.6	-	4	1430	c.1212C>G	c.(1210-1212)acC>acG	p.T404T	RLIM_ENST00000349225.2_Silent_p.T404T	NM_016120.3	NP_057204.2	Q9NVW2	RNF12_HUMAN	ring finger protein, LIM domain interacting	404					random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|transcriptional repressor complex	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding	p.T404T(6)		breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GCCTTAACATGGTCTGAATTG	0.413													7	193					0	0	1	0	0	C	73811938	G	C	73811938	2	2	221	1	0	0	0	0	0	0	0	1	13442	1335	47	5		5	RLIM	23	73811938	Silent	SNP	G	TCGA-FG-A70Z-01A-12D-A33T-08	26503705	73811938	81458622	65	26000											
COL4A5	1287	broad.mit.edu	37	X	107683420	107683420	+	Missense_Mutation	SNP	A	A	T			TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chrX:107683420A>T	ENST00000328300.6	+	1	309	c.65A>T	c.(64-66)cAg>cTg	p.Q22L	COL4A5_ENST00000361603.2_Missense_Mutation_p.Q22L|COL4A5_ENST00000477429.1_3'UTR	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	22					axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						CTTTGGGGGCAGCCTGCAGAG	0.602									Alport syndrome with Diffuse Leiomyomatosis				18	43					0	0	1	0	0	T	107683420	A	T	107683420	3	4	221	1	0	0	0	0	1	0	0	0	3717	188	7	5	67	5	COL4A5	23	107683420	Missense_Mutation	SNP	A	TCGA-FG-A70Z-01A-12D-A33T-08	33871482	107683420	47587140	66	26001											
MBNL3	55796	broad.mit.edu	37	X	131573638	131573638	+	Translation_Start_Site	SNP	A	A	T			TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chrX:131573638A>T	ENST00000370857.3	-	1	67	c.2T>A	c.(1-3)aTg>aAg	p.M1K	MBNL3_ENST00000370839.3_Start_Codon_SNP_p.M1K|MBNL3_ENST00000370844.1_Intron|MBNL3_ENST00000370853.3_Start_Codon_SNP_p.M1K			Q9NUK0	MBNL3_HUMAN	muscleblind-like splicing regulator 3	1					mRNA processing|multicellular organismal development|regulation of RNA splicing|RNA splicing	Golgi apparatus|nucleus	nucleic acid binding|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|prostate(2)	16	Acute lymphoblastic leukemia(192;0.000127)					GACAGCCGTCATATTGAAAGC	0.378													111	214					0	0	1	0	0	T	131573638	A	T	131573638	1	4	221	1	0	0	0	0	0	0	0	0	9405	217	8	4		4	MBNL3	23	131573638	Translation_Start_Site	SNP	A	TCGA-FG-A70Z-01A-12D-A33T-08	23890218	131573638	23696922	67	26002											
SLC6A8	6535	broad.mit.edu	37	X	152960346	152960346	+	Splice_Site	SNP	T	T	A			TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chrX:152960346T>A	ENST00000253122.5	+	12	2243		c.e12+2		SLC6A8_ENST00000430077.2_Splice_Site|SLC6A8_ENST00000485324.1_Splice_Site	NM_001142805.1|NM_005629.3	NP_001136277.1|NP_005620.1	P48029	SC6A8_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 8						creatine metabolic process|muscle contraction	integral to plasma membrane	creatine:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	13	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				Creatine(DB00148)	ATGGCTGAGGTAAGGCTCCCG	0.692													7	9					0	0	1	0	0	A	152960346	T	A	152960346	5	1	221	1	0	0	0	0	0	0	1	0	14745	1652	57	5	1815	5	SLC6A8	23	152960346	Splice_Site	SNP	T	TCGA-FG-A70Z-01A-12D-A33T-08	21386708	152960346	2310214	68	26003											
FLNA	2316	broad.mit.edu	37	X	153599591	153599591	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chrX:153599591G>A	ENST00000422373.1	-	2	271	c.23C>T	c.(22-24)gCg>gTg	p.A8V	FLNA_ENST00000344736.4_Missense_Mutation_p.A8V|FLNA_ENST00000369850.3_Missense_Mutation_p.A8V|FLNA_ENST00000360319.4_Missense_Mutation_p.A8V	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN	filamin A, alpha	8	Actin-binding.				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GCTCTGGCCCGCCCGAGAGTG	0.721													3	11					0	0	1	0	0	A	153599591	G	A	153599591	3	1	221	1	0	0	0	0	1	0	0	0	5966	1087	38	1	8108	1	FLNA	23	153599591	Missense_Mutation	SNP	G	TCGA-FG-A70Z-01A-12D-A33T-08	639245	153599591	1670969	69	26004											
F8	2157	broad.mit.edu	37	X	154157638	154157638	+	Missense_Mutation	SNP	C	C	T	rs142955808		TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chrX:154157638C>T	ENST00000360256.4	-	14	4627	c.4427G>A	c.(4426-4428)aGa>aAa	p.R1476K		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	1476	B.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	GCCAACCTCTCTTTGATCACC	0.438													19	185					0	0	1	0	0	T	154157638	C	T	154157638	3	4	221	1	0	0	0	0	1	0	0	0	5378	913	32	2	2708	2	F8	23	154157638	Missense_Mutation	SNP	C	TCGA-FG-A70Z-01A-12D-A33T-08	558047	154157638	1112922	70	26005											
ARID1A	8289	broad.mit.edu	37	1	27058039	27058040	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr1:27058039_27058040delCA	ENST00000324856.7	+	3	2118_2119	c.1747_1748delCA	c.(1747-1749)cagfs	p.Q583fs	ARID1A_ENST00000457599.2_Frame_Shift_Del_p.Q583fs|ARID1A_ENST00000374152.2_Frame_Shift_Del_p.Q200fs	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	583					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		TCCTCAGCCCCAGTCTCAGCAG	0.609			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"								23	231	---	---	---	---						-	27058040	CA	-	27058039	7	5	222	1	0	1	0	1	0	0	0	0	910	595	21	0	1757	0	ARID1A	1	27058039	Frame_Shift_Del	DEL	CA	TCGA-FG-A710-01A-12D-A33T-08		27058039	222192582	1	26006											
PODN	127435	broad.mit.edu	37	1	53535555	53535557	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr1:53535555_53535557delCTG	ENST00000371500.3	+	4	456_458	c.115_117delCTG	c.(115-117)ctgdel	p.L42del	PODN_ENST00000312553.5_In_Frame_Del_p.L61del|PODN_ENST00000395871.2_In_Frame_Del_p.L61del	NM_001199080.1	NP_001186009.1	Q7Z5L7	PODN_HUMAN	podocan	13					negative regulation of cell migration|negative regulation of cell proliferation	cytoplasm|extracellular space|proteinaceous extracellular matrix	collagen binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						gctgctgctcctgctgctgctgc	0.685													2	4	---	---	---	---						-	53535557	CTG	-	53535555	7	5	222	1	0	1	0	1	0	0	0	0	12226	680	24	0	178	0	PODN	1	53535555	In_Frame_Del	DEL	CTG	TCGA-FG-A710-01A-12D-A33T-08	26477516	53535555	195715066	2	26007											
FUBP1	8880	broad.mit.edu	37	1	78429830	78429830	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr1:78429830C>A	ENST00000370767.1	-	12	1045	c.958G>T	c.(958-960)Gaa>Taa	p.E320*	FUBP1_ENST00000370768.2_Nonsense_Mutation_p.E320*|FUBP1_ENST00000436586.2_Nonsense_Mutation_p.E341*			Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1	320	KH 3.				transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						GCTATCCTTTCGGGTGTTGTC	0.348			"F, N"		oligodendroglioma								15	149					0.000308642	0.000318287	1	1	0	A	78429830	C	A	78429830	4	1	222	1	0	0	0	0	0	1	0	0	6127	893	31	5	1012	5	FUBP1	1	78429830	Nonsense_Mutation	SNP	C	TCGA-FG-A710-01A-12D-A33T-08	24894275	78429830	170820791	3	26008											
AQP10	89872	broad.mit.edu	37	1	154294528	154294528	+	Silent	SNP	C	C	T			TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr1:154294528C>T	ENST00000484864.1	+	2	261	c.225C>T	c.(223-225)aaC>aaT	p.N75N	AQP10_ENST00000355197.4_Intron|AQP10_ENST00000324978.3_Silent_p.N75N			Q96PS8	AQP10_HUMAN	aquaporin 10	75					response to toxin|transmembrane transport|water transport	integral to membrane|plasma membrane	transporter activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|stomach(2)|upper_aerodigestive_tract(1)	23	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			TGGGTGGTAACGTCTCAGGTG	0.547													18	31					0	0	1	0	0	T	154294528	C	T	154294528	2	4	222	1	0	0	0	0	0	0	0	1	819	535	19	1		1	AQP10	1	154294528	Silent	SNP	C	TCGA-FG-A710-01A-12D-A33T-08	75864698	154294528	94956093	4	26009											
SOAT1	6646	broad.mit.edu	37	1	179314136	179314136	+	Silent	SNP	T	T	C			TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr1:179314136T>C	ENST00000367619.3	+	11	1185	c.1042T>C	c.(1042-1044)Ttg>Ctg	p.L348L	SOAT1_ENST00000539888.1_Silent_p.L283L|SOAT1_ENST00000540564.1_Silent_p.L290L|SOAT1_ENST00000535686.1_Silent_p.L84L	NM_003101.5	NP_003092.4	P35610	SOAT1_HUMAN	sterol O-acyltransferase 1	348					cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|cholesterol storage|macrophage derived foam cell differentiation|positive regulation of amyloid precursor protein biosynthetic process|very-low-density lipoprotein particle assembly	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol binding|cholesterol O-acyltransferase activity|fatty-acyl-CoA binding			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|stomach(1)	20					Ezetimibe(DB00973)|Hesperetin(DB01094)	TTGTGCCCCCTTGTTTCGGAA	0.408													16	311					0	0	1	0	0	C	179314136	T	C	179314136	2	2	222	1	0	0	0	0	0	0	0	1	14964	1606	56	3		3	SOAT1	1	179314136	Silent	SNP	T	TCGA-FG-A710-01A-12D-A33T-08	25019608	179314136	69936485	5	26010											
DNMT3A	1788	broad.mit.edu	37	2	25463299	25463299	+	Missense_Mutation	SNP	A	A	G	rs149043640		TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr2:25463299A>G	ENST00000264709.3	-	19	2531	c.2194T>C	c.(2194-2196)Ttt>Ctt	p.F732L	DNMT3A_ENST00000474887.1_5'UTR|DNMT3A_ENST00000380746.4_Missense_Mutation_p.F543L|DNMT3A_ENST00000402667.1_Missense_Mutation_p.F509L|DNMT3A_ENST00000321117.5_Missense_Mutation_p.F732L	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	732					regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TAGAACTCAAAGAAGAGCCGG	0.607			"Mis, F, N, S"		AML								38	67					0	0	1	0	0	G	25463299	A	G	25463299	3	3	222	1	0	0	0	0	1	0	0	0	4703	72	3	3	564	3	DNMT3A	2	25463299	Missense_Mutation	SNP	A	TCGA-FG-A710-01A-12D-A33T-08		25463299	217736074	6	26011											
RAB3GAP1	22930	broad.mit.edu	37	2	135922204	135922204	+	Missense_Mutation	SNP	A	A	G			TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr2:135922204A>G	ENST00000264158.8	+	23	2690	c.2647A>G	c.(2647-2649)Acc>Gcc	p.T883A	ZRANB3_ENST00000412849.1_Intron|RAB3GAP1_ENST00000487003.1_3'UTR|RAB3GAP1_ENST00000539493.1_Missense_Mutation_p.T839A|RAB3GAP1_ENST00000442034.1_Missense_Mutation_p.T883A	NM_012233.2	NP_036365.1	Q15042	RB3GP_HUMAN	RAB3 GTPase activating protein subunit 1 (catalytic)	883						centrosome|nucleus|soluble fraction	Rab GTPase activator activity|Rab GTPase binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32				BRCA - Breast invasive adenocarcinoma(221;0.117)		AGTGTTAGTCACCGGTGCAGG	0.512													3	60					0	0	1	0	0	G	135922204	A	G	135922204	3	3	222	1	0	0	0	0	1	0	0	0	12987	159	6	3	2737	3	RAB3GAP1	2	135922204	Missense_Mutation	SNP	A	TCGA-FG-A710-01A-12D-A33T-08	110458905	135922204	107277169	7	26012											
CIR1	9541	broad.mit.edu	37	2	175243709	175243709	+	Silent	SNP	T	T	C			TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr2:175243709T>C	ENST00000342016.3	-	7	518	c.426A>G	c.(424-426)gaA>gaG	p.E142E	CIR1_ENST00000362053.5_Silent_p.E142E	NM_004882.3	NP_004873.3	Q86X95	CIR1_HUMAN	corepressor interacting with RBPJ, 1	142					mRNA processing|negative regulation of transcription, DNA-dependent|RNA splicing	nuclear speck	protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(5)|skin(1)	15						ACAAAGGACATTCTCGATCTG	0.403													22	228					0	0	1	0	0	C	175243709	T	C	175243709	2	2	222	1	0	0	0	0	0	0	0	1	3454	1490	52	3		3	CIR1	2	175243709	Silent	SNP	T	TCGA-FG-A710-01A-12D-A33T-08	39321505	175243709	67955664	8	26013											
PLEKHM3	389072	broad.mit.edu	37	2	208725913	208725913	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr2:208725913C>T	ENST00000427836.2	-	7	2513	c.2024G>A	c.(2023-2025)aGt>aAt	p.S675N	PLEKHM3_ENST00000389247.4_Missense_Mutation_p.S675N	NM_001080475.2	NP_001073944.1	Q6ZWE6	PKHM3_HUMAN	pleckstrin homology domain containing, family M, member 3	675					intracellular signal transduction		metal ion binding			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GCTACAAAGACTGCAGCTGTA	0.438													95	168					0	0	1	0	0	T	208725913	C	T	208725913	3	4	222	1	0	0	0	0	1	0	0	0	12130	565	20	2	269	2	PLEKHM3	2	208725913	Missense_Mutation	SNP	C	TCGA-FG-A710-01A-12D-A33T-08	33482204	208725913	34473460	9	26014											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	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	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								47	93					0	0	1	0	0	T	209113112	C	T	209113112	3	4	222	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-FG-A710-01A-12D-A33T-08	387199	209113112	34086261	10	26015											
TMPRSS11B	132724	broad.mit.edu	37	4	69097010	69097010	+	Silent	SNP	C	C	T			TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr4:69097010C>T	ENST00000332644.5	-	7	758	c.597G>A	c.(595-597)caG>caA	p.Q199Q		NM_182502.3	NP_872308.2	Q86T26	TM11B_HUMAN	transmembrane protease, serine 11B	199	Peptidase S1.				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)	27						GCATGCTGGCCTGCCATGGCC	0.493													13	96					0	0	1	0	0	T	69097010	C	T	69097010	2	4	222	1	0	0	0	0	0	0	0	1	16300	680	24	2		2	TMPRSS11B	4	69097010	Silent	SNP	C	TCGA-FG-A710-01A-12D-A33T-08		69097010	122057266	11	26016											
PJA2	9867	broad.mit.edu	37	5	108714431	108714431	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr5:108714431T>C	ENST00000361189.2	-	4	996	c.757A>G	c.(757-759)Agc>Ggc	p.S253G	PJA2_ENST00000361557.3_Missense_Mutation_p.S253G	NM_014819.4	NP_055634.3	O43164	PJA2_HUMAN	praja ring finger 2, E3 ubiquitin protein ligase	253					long-term memory|regulation of protein kinase A signaling cascade	cell junction|endoplasmic reticulum membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	ligase activity|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21		all_cancers(142;4.4e-06)|all_epithelial(76;8.17e-08)|Prostate(80;0.00676)|Lung NSC(167;0.0436)|Ovarian(225;0.0443)|all_lung(232;0.053)|Colorectal(57;0.0946)|Breast(839;0.151)		OV - Ovarian serous cystadenocarcinoma(64;3.46e-10)|Epithelial(69;6.02e-09)|COAD - Colon adenocarcinoma(37;0.224)		ATTTCCTGGCTATTCTGATGG	0.383													87	139					0	0	1	0	0	C	108714431	T	C	108714431	3	2	222	1	0	0	0	0	1	0	0	0	12010	1522	53	3	1397	3	PJA2	5	108714431	Missense_Mutation	SNP	T	TCGA-FG-A710-01A-12D-A33T-08		108714431	72200829	12	26017											
PCDHA3	56145	broad.mit.edu	37	5	140182636	140182636	+	Silent	SNP	G	G	A			TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr5:140182636G>A	ENST00000522353.2	+	1	1854	c.1854G>A	c.(1852-1854)gcG>gcA	p.A618A	PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000532566.2_Silent_p.A618A|PCDHA2_ENST00000520672.2_Intron	NM_018906.2	NP_061729.1														NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCGGCGGTGCGCGCATCCCGT	0.672													88	91					0	0	1	0	0	A	140182636	G	A	140182636	2	1	222	1	0	0	0	0	0	0	0	1	11572	1074	38	1		1	PCDHA3	5	140182636	Silent	SNP	G	TCGA-FG-A710-01A-12D-A33T-08	31468205	140182636	40732624	13	26018											
HIST1H2AM	8336	broad.mit.edu	37	6	27860923	27860923	+	Missense_Mutation	SNP	G	G	C			TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr6:27860923G>C	ENST00000359611.2	-	1	40	c.5C>G	c.(4-6)tCt>tGt	p.S2C		NM_003514.2	NP_003505.1	P0C0S8	H2A1_HUMAN	histone cluster 1, H2am	2					nucleosome assembly	nucleosome|nucleus	DNA binding|enzyme binding			endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(2)	14						GCCACGTCCAGACATGGTAAA	0.572													27	63					0	0	1	0	0	C	27860923	G	C	27860923	3	2	222	1	0	0	0	0	1	0	0	0	7180	942	33	4	391	4	HIST1H2AM	6	27860923	Missense_Mutation	SNP	G	TCGA-FG-A710-01A-12D-A33T-08		27860923	143254144	14	26019											
ZBTB9	221504	broad.mit.edu	37	6	33423477	33423477	+	Silent	SNP	A	A	C			TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr6:33423477A>C	ENST00000395064.2	+	2	868	c.600A>C	c.(598-600)ggA>ggC	p.G200G		NM_152735.3	NP_689948.1	Q96C00	ZBTB9_HUMAN	zinc finger and BTB domain containing 9	200					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|skin(1)|upper_aerodigestive_tract(2)	11						GAGGGGAGGGAAGTGAACTGG	0.552													51	111					0	0	1	0	0	C	33423477	A	C	33423477	2	2	222	1	0	0	0	0	0	0	0	1	17617	233	9	5		5	ZBTB9	6	33423477	Silent	SNP	A	TCGA-FG-A710-01A-12D-A33T-08	5562554	33423477	137691590	15	26020											
SLC7A13	157724	broad.mit.edu	37	8	87241960	87241960	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr8:87241960T>C	ENST00000297524.3	-	1	650	c.547A>G	c.(547-549)Ata>Gta	p.I183V	SLC7A13_ENST00000520624.1_Intron|SLC7A13_ENST00000419776.2_Missense_Mutation_p.I183V	NM_138817.2	NP_620172.2	Q8TCU3	S7A13_HUMAN	solute carrier family 7 (anionic amino acid transporter), member 13	183						integral to membrane	amino acid transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	45						TTCCCTCTTATCAGGAACACT	0.408													12	221					0	0	1	0	0	C	87241960	T	C	87241960	3	2	222	1	0	0	0	0	1	0	0	0	14750	1435	50	3	881	3	SLC7A13	8	87241960	Missense_Mutation	SNP	T	TCGA-FG-A710-01A-12D-A33T-08		87241960	59122062	16	26021											
KCNQ3	3786	broad.mit.edu	37	8	133141584	133141584	+	Silent	SNP	G	G	A			TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr8:133141584G>A	ENST00000388996.4	-	15	2964	c.2544C>T	c.(2542-2544)agC>agT	p.S848S	KCNQ3_ENST00000519445.1_Silent_p.S836S|KCNQ3_ENST00000521134.1_Silent_p.S728S	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	848					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			GCATGGAGCCGCTGGGCGTGA	0.582													4	99					0	0	1	0	0	A	133141584	G	A	133141584	2	1	222	1	0	0	0	0	0	0	0	1	8128	1078	38	1		1	KCNQ3	8	133141584	Silent	SNP	G	TCGA-FG-A710-01A-12D-A33T-08	45899624	133141584	13222438	17	26022											
RECQL4	9401	broad.mit.edu	37	8	145738653	145738653	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr8:145738653C>T	ENST00000428558.2	-	15	2452	c.2411G>A	c.(2410-2412)cGg>cAg	p.R804Q	CTD-2517M22.17_ENST00000580385.1_RNA|RECQL4_ENST00000532237.1_5'UTR	NM_004260.3	NP_004251.3	O94761	RECQ4_HUMAN	RecQ protein-like 4	804	Helicase C-terminal.				DNA duplex unwinding|DNA recombination|DNA repair	cytoplasm|nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|DNA strand annealing activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-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;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			ACGCCCGGCCCGGCCCACGGC	0.716			"N, F, S"			"osteosarcoma, skin basal and sqamous cell"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Rothmund-Thomson syndrome;RAPADILINO syndrome;Baller-Gerold syndrome				18	27					0	0	1	0	0	T	145738653	C	T	145738653	3	4	222	1	0	0	0	0	1	0	0	0	13254	639	23	1	1247	1	RECQL4	8	145738653	Missense_Mutation	SNP	C	TCGA-FG-A710-01A-12D-A33T-08	12597069	145738653	625369	18	26023											
VPS13A	23230	broad.mit.edu	37	9	79853107	79853107	+	Splice_Site	SNP	A	A	C			TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr9:79853107A>C	ENST00000360280.3	+	18	2045	c.1785A>C	c.(1783-1785)gcA>gcC	p.A595A	VPS13A_ENST00000376636.3_Splice_Site_p.A595A|VPS13A_ENST00000376634.4_Splice_Site_p.A595A|VPS13A_ENST00000357409.5_Splice_Site_p.A595A	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	595					Golgi to endosome transport|protein transport	intracellular	protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						TATATGATGCAGTAAGCATTT	0.274													6	224					0	0	1	0	0	C	79853107	A	C	79853107	5	2	222	1	0	0	0	0	0	0	1	0	17249	202	7	5	1855	5	VPS13A	9	79853107	Splice_Site	SNP	A	TCGA-FG-A710-01A-12D-A33T-08		79853107	61360324	19	26024											
NOTCH1	4851	broad.mit.edu	37	9	139399934	139399934	+	Missense_Mutation	SNP	A	A	G			TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr9:139399934A>G	ENST00000277541.6	-	25	4489	c.4414T>C	c.(4414-4416)Tgc>Cgc	p.C1472R		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1472					aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		TCCCAGCCGCACGCGTGGTTG	0.642			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			4	75					0	0	1	0	0	G	139399934	A	G	139399934	3	3	222	1	0	0	0	0	1	0	0	0	10594	159	6	3	3293	3	NOTCH1	9	139399934	Missense_Mutation	SNP	A	TCGA-FG-A710-01A-12D-A33T-08	59546827	139399934	1813497	20	26025											
HPS1	3257	broad.mit.edu	37	10	100185417	100185417	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr10:100185417C>T	ENST00000325103.6	-	13	1449	c.1216G>A	c.(1216-1218)Gag>Aag	p.E406K	HPS1_ENST00000361490.4_Missense_Mutation_p.E406K|HPS1_ENST00000467246.1_5'UTR	NM_000195.3	NP_000186.2	Q92902	HPS1_HUMAN	Hermansky-Pudlak syndrome 1	406					lysosome organization|response to stimulus|visual perception	cytoplasmic membrane-bounded vesicle|integral to plasma membrane|lysosome|membrane fraction|soluble fraction	protein dimerization activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23		Colorectal(252;0.234)		Epithelial(162;3.87e-12)|all cancers(201;5.63e-10)		AGCTTCTTCTCCAGCATGGAG	0.667									Hermansky-Pudlak syndrome		OREG0020430	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	68					0	0	1	0	0	T	100185417	C	T	100185417	3	4	222	1	0	0	0	0	1	0	0	0	7380	864	30	2	918	2	HPS1	10	100185417	Missense_Mutation	SNP	C	TCGA-FG-A710-01A-12D-A33T-08		100185417	35349330	21	26026											
PAX2	5076	broad.mit.edu	37	10	102509607	102509607	+	Missense_Mutation	SNP	C	C	T	rs76675173		TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr10:102509607C>T	ENST00000370296.2	+	2	698	c.148C>T	c.(148-150)Cgg>Tgg	p.R50W	PAX2_ENST00000361791.3_Missense_Mutation_p.R50W|PAX2_ENST00000355243.3_Missense_Mutation_p.R50W|PAX2_ENST00000556085.1_Missense_Mutation_p.R49W|PAX2_ENST00000553492.1_Intron|PAX2_ENST00000428433.1_Missense_Mutation_p.R50W			Q02962	PAX2_HUMAN	paired box 2	50	Paired.				anti-apoptosis|axonogenesis|brain morphogenesis|branching involved in ureteric bud morphogenesis|cell fate determination|cellular response to glucose stimulus|cellular response to hydrogen peroxide|cellular response to retinoic acid|cochlea development|glial cell differentiation|inner ear morphogenesis|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesodermal cell fate specification|mesonephros development|metanephric collecting duct development|metanephric distal convoluted tubule development|metanephric mesenchymal cell differentiation|metanephric nephron tubule formation|negative regulation of caspase activity|negative regulation of cytolysis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|negative regulation of reactive oxygen species metabolic process|negative regulation of transcription, DNA-dependent|nephric duct formation|neural tube closure|optic chiasma development|optic cup morphogenesis involved in camera-type eye development|optic nerve structural organization|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of metanephric glomerulus development|positive regulation of optic nerve formation|positive regulation of transcription from RNA polymerase II promoter|pronephric field specification|protein kinase B signaling cascade|reactive oxygen species metabolic process|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of metanephros size|retinal pigment epithelium development|stem cell differentiation|transcription from RNA polymerase II promoter|ureter maturation|vestibulocochlear nerve formation|visual perception	centriolar satellite|nucleus|protein complex|protein-DNA complex	core promoter proximal region sequence-specific DNA binding|superoxide-generating NADPH oxidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	18		Colorectal(252;0.234)		Epithelial(162;1.32e-08)|all cancers(201;7.32e-07)		CCAGGGTGTGCGGCCCTGTGA	0.687													4	109					0	0	1	0	0	T	102509607	C	T	102509607	3	4	222	1	0	0	0	0	1	0	0	0	11526	759	27	1	154	1	PAX2	10	102509607	Missense_Mutation	SNP	C	TCGA-FG-A710-01A-12D-A33T-08	2324190	102509607	33025140	22	26027											
MUC5B	727897	broad.mit.edu	37	11	1269135	1269135	+	Silent	SNP	G	G	A			TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr11:1269135G>A	ENST00000447027.1	+	31	11092	c.11034G>A	c.(11032-11034)ccG>ccA	p.P3678P	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000529681.1_Silent_p.P3675P			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3675	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398).	cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CCAGCACCCCGGCCACCAGCT	0.587													26	342					0	0	1	0	0	A	1269135	G	A	1269135	2	1	222	1	0	0	0	0	0	0	0	1	10027	1103	39	1		1	MUC5B	11	1269135	Silent	SNP	G	TCGA-FG-A710-01A-12D-A33T-08		1269135	133737381	23	26028											
OR1S1	219959	broad.mit.edu	37	11	57982721	57982721	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr11:57982721G>A	ENST00000309433.6	+	1	505	c.505G>A	c.(505-507)Gct>Act	p.A169T		NM_001004458.1	NP_001004458.1	Q8NH92	OR1S1_HUMAN	olfactory receptor, family 1, subfamily S, member 1	169					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(24)|kidney(1)|large_intestine(1)|liver(1)|lung(10)|prostate(1)|skin(2)|stomach(3)|urinary_tract(3)	48		Breast(21;0.0589)				TAATATTATTGCTCTGACACA	0.478													27	460					0	0	1	0	0	A	57982721	G	A	57982721	3	1	222	1	0	0	0	0	1	0	0	0	11020	1319	46	2	507	2	OR1S1	11	57982721	Missense_Mutation	SNP	G	TCGA-FG-A710-01A-12D-A33T-08	56713586	57982721	77023795	24	26029											
DDX47	51202	broad.mit.edu	37	12	12982412	12982414	+	In_Frame_Del	DEL	ATG	ATG	-			TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr12:12982412_12982414delATG	ENST00000358007.3	+	12	1314_1316	c.1292_1294delATG	c.(1291-1296)aatgat>aat	p.D433del	DDX47_ENST00000352940.4_In_Frame_Del_p.D384del	NM_016355.3	NP_057439.2	Q9H0S4	DDX47_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 47	433						nucleolus	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		Prostate(47;0.0526)		BRCA - Breast invasive adenocarcinoma(232;0.0354)		GCTGGAGATAATGATGACACAGA	0.453													32	69	---	---	---	---						-	12982414	ATG	-	12982412	7	5	222	1	0	1	0	1	0	0	0	0	4388	101	4	0	1338	0	DDX47	12	12982412	In_Frame_Del	DEL	ATG	TCGA-FG-A710-01A-12D-A33T-08		12982412	120869483	25	26030											
SYT10	341359	broad.mit.edu	37	12	33560040	33560040	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr12:33560040T>C	ENST00000228567.3	-	3	1057	c.761A>G	c.(760-762)aAa>aGa	p.K254R	SYT10_ENST00000535526.1_Missense_Mutation_p.K73R	NM_198992.3	NP_945343.1	Q6XYQ8	SYT10_HUMAN	synaptotagmin X	254	C2 1.					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					ATCTAAAGCTTTGATAATTTT	0.378													49	72					0	0	1	0	0	C	33560040	T	C	33560040	3	2	222	1	0	0	0	0	1	0	0	0	15523	1841	64	3	830	3	SYT10	12	33560040	Missense_Mutation	SNP	T	TCGA-FG-A710-01A-12D-A33T-08	20577628	33560040	100291855	26	26031											
OR10A7	121364	broad.mit.edu	37	12	55615263	55615263	+	Missense_Mutation	SNP	G	G	C			TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr12:55615263G>C	ENST00000326258.1	+	1	455	c.455G>C	c.(454-456)gGt>gCt	p.G152A		NM_001005280.1	NP_001005280.1	Q8NGE5	O10A7_HUMAN	olfactory receptor, family 10, subfamily A, member 7	152					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|lung(11)|ovary(4)|prostate(2)|skin(3)	24						TGGATGTCCGGTGTTCCTGTG	0.493													6	173					0	0	1	0	0	C	55615263	G	C	55615263	3	2	222	1	0	0	0	0	1	0	0	0	10943	1261	44	5	457	5	OR10A7	12	55615263	Missense_Mutation	SNP	G	TCGA-FG-A710-01A-12D-A33T-08	22055223	55615263	78236632	27	26032											
OSBPL8	114882	broad.mit.edu	37	12	76881291	76881291	+	Splice_Site	SNP	G	G	T	rs142756436		TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr12:76881291G>T	ENST00000261183.3	-	2	520	c.41C>A	c.(40-42)tCg>tAg	p.S14*	OSBPL8_ENST00000393249.2_5'UTR|OSBPL8_ENST00000393250.4_5'UTR	NM_020841.4	NP_065892.1	Q9BZF1	OSBL8_HUMAN	oxysterol binding protein-like 8	14					lipid transport		lipid binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(2)	28						ACTACTCACCGAAGTTCGATC	0.353													4	79					0.000602214	0.000611479	1	1	0	T	76881291	G	T	76881291	5	4	222	1	0	0	0	0	0	0	1	0	11330	1072	37	5	2720	5	OSBPL8	12	76881291	Splice_Site	SNP	G	TCGA-FG-A710-01A-12D-A33T-08	21266028	76881291	56970604	28	26033											
ZNF268	10795	broad.mit.edu	37	12	133779622	133779622	+	Frame_Shift_Del	DEL	A	A	-	rs141481798	by1000genomes	TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr12:133779622delA	ENST00000536435.2	+	6	1680	c.1350delA	c.(1348-1350)ggafs	p.G450fs	ZNF268_ENST00000541009.2_3'UTR|ZNF268_ENST00000537565.1_Frame_Shift_Del_p.G289fs|ZNF268_ENST00000542986.2_3'UTR|ZNF268_ENST00000536899.2_3'UTR|ZNF268_ENST00000228289.5_Frame_Shift_Del_p.G450fs	NM_001165885.1|NM_003415.2	NP_001159357.1|NP_003406.1	Q14587	ZN268_HUMAN	zinc finger protein 268	450						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(3)|endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(1)	24	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.000215)|all_epithelial(31;0.096)		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)		GTGATTGTGGAAAAGCCTTTA	0.398													2	4	---	---	---	---						-	133779622	A	-	133779622	7	5	222	1	0	1	0	1	0	0	0	0	17865	233	9	0		0	ZNF268	12	133779622	Frame_Shift_Del	DEL	A	TCGA-FG-A710-01A-12D-A33T-08	56898331	133779622	72273	29	26034											
SLC25A15	10166	broad.mit.edu	37	13	41379349	41379349	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr13:41379349T>C	ENST00000338625.4	+	4	646	c.410T>C	c.(409-411)aTg>aCg	p.M137T	SLC25A15_ENST00000478827.1_3'UTR	NM_014252.3	NP_055067.1	Q9Y619	ORNT1_HUMAN	solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 15	137					cellular amino acid metabolic process|mitochondrial ornithine transport|urea cycle	integral to membrane|mitochondrial inner membrane	L-ornithine transmembrane transporter activity			endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|stomach(1)|urinary_tract(1)	14		Lung NSC(96;3.55e-06)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194)		all cancers(112;1.48e-08)|Epithelial(112;7.51e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000191)|GBM - Glioblastoma multiforme(144;0.00231)|BRCA - Breast invasive adenocarcinoma(63;0.0704)	L-Ornithine(DB00129)	CTGCAGACCATGTATGAGATG	0.542													12	93					0	0	1	0	0	C	41379349	T	C	41379349	3	2	222	1	0	0	0	0	1	0	0	0	14532	1464	51	3	420	3	SLC25A15	13	41379349	Missense_Mutation	SNP	T	TCGA-FG-A710-01A-12D-A33T-08		41379349	73790529	30	26035											
TDRD3	81550	broad.mit.edu	37	13	61083925	61083925	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr13:61083925C>T	ENST00000196169.3	+	9	1396	c.608C>T	c.(607-609)aCg>aTg	p.T203M	TDRD3_ENST00000377894.2_Missense_Mutation_p.T203M|TDRD3_ENST00000535286.1_Missense_Mutation_p.T296M|TDRD3_ENST00000377881.2_Missense_Mutation_p.T203M	NM_001146071.1|NM_030794.2	NP_001139543.1|NP_110421.1	Q9H7E2	TDRD3_HUMAN	tudor domain containing 3	203	UBA.				chromatin modification	cytoplasm|nucleus	chromatin binding|methylated histone residue binding|nucleic acid binding|transcription coactivator activity	p.T203fs*21(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	40		Prostate(109;0.173)|Breast(118;0.174)		GBM - Glioblastoma multiforme(99;0.000291)		AAGCACATAACGGAAATGGGC	0.418													16	315					0	0	1	0	0	T	61083925	C	T	61083925	3	4	222	1	0	0	0	0	1	0	0	0	15791	536	19	1	921	1	TDRD3	13	61083925	Missense_Mutation	SNP	C	TCGA-FG-A710-01A-12D-A33T-08	19704576	61083925	54085953	31	26036											
ABCC11	85320	broad.mit.edu	37	16	48204026	48204026	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr16:48204026C>T	ENST00000394747.1	-	27	4230	c.3881G>A	c.(3880-3882)cGc>cAc	p.R1294H	ABCC11_ENST00000565329.1_5'UTR|ABCC11_ENST00000353782.5_Intron|ABCC11_ENST00000394748.1_Missense_Mutation_p.R1294H|ABCC11_ENST00000356608.2_Missense_Mutation_p.R1294H	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	1294	ABC transporter 2.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	p.R1294H(1)		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)				CTTGGAGTTGCGAAGCACAGC	0.577													6	313					0	0	1	0	0	T	48204026	C	T	48204026	3	4	222	1	0	0	0	0	1	0	0	0	51	768	27	1	279	1	ABCC11	16	48204026	Missense_Mutation	SNP	C	TCGA-FG-A710-01A-12D-A33T-08		48204026	42150727	32	26037											
WDR59	79726	broad.mit.edu	37	16	74943721	74943721	+	Splice_Site	SNP	A	A	G	rs5023505		TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr16:74943721A>G	ENST00000262144.6	-	15	1614	c.1484T>C	c.(1483-1485)gTg>gCg	p.V495A		NM_030581.3	NP_085058.3	Q6PJI9	WDR59_HUMAN	WD repeat domain 59	495										breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)	27						GCTTCCCACCACAAAGGACTC	0.498													4	96					0	0	1	0	0	G	74943721	A	G	74943721	5	3	222	1	0	0	0	0	0	0	1	0	17368	173	6	3	1488	3	WDR59	16	74943721	Splice_Site	SNP	A	TCGA-FG-A710-01A-12D-A33T-08	26739695	74943721	15411032	33	26038											
MYH1	4619	broad.mit.edu	37	17	10401968	10401968	+	Missense_Mutation	SNP	G	G	A	rs142884848	byFrequency	TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr17:10401968G>A	ENST00000226207.5	-	30	4250	c.4156C>T	c.(4156-4158)Cgc>Tgc	p.R1386C	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1386						muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						TCCTCTGTGCGCTGGATGGCA	0.483													117	145					0	0	1	0	0	A	10401968	G	A	10401968	3	1	222	1	0	0	0	0	1	0	0	0	10077	1087	38	1	1707	1	MYH1	17	10401968	Missense_Mutation	SNP	G	TCGA-FG-A710-01A-12D-A33T-08		10401968	70793242	34	26039											
ELAC2	60528	broad.mit.edu	37	17	12908353	12908353	+	Silent	SNP	T	T	C			TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr17:12908353T>C	ENST00000338034.4	-	11	1175	c.936A>G	c.(934-936)ccA>ccG	p.P312P	ELAC2_ENST00000609345.1_5'UTR|ELAC2_ENST00000426905.3_Silent_p.P272P|ELAC2_ENST00000395962.2_Silent_p.P293P	NM_018127.6|NM_173717.1	NP_060597.4|NP_776065.1	Q9BQ52	RNZ2_HUMAN	elaC ribonuclease Z 2	312					tRNA processing	nucleus	endonuclease activity|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|skin(1)	23						AGCTTTCATCTGGACATTCTA	0.512													37	310					0	0	1	0	0	C	12908353	T	C	12908353	2	2	222	1	0	0	0	0	0	0	0	1	5075	1567	55	3		3	ELAC2	17	12908353	Silent	SNP	T	TCGA-FG-A710-01A-12D-A33T-08	2506385	12908353	68286857	35	26040											
HAP1	9001	broad.mit.edu	37	17	39884518	39884518	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr17:39884518G>A	ENST00000393939.2	-	7	1144	c.1135C>T	c.(1135-1137)Cgg>Tgg	p.R379W	HAP1_ENST00000310778.5_Missense_Mutation_p.R379W|HAP1_ENST00000341193.5_Missense_Mutation_p.R387W|JUP_ENST00000540235.1_Intron|HAP1_ENST00000347901.4_Missense_Mutation_p.R379W			P54257	HAP1_HUMAN	huntingtin-associated protein 1	379	Glu-rich.|HAP1 N-terminal.				brain development|protein localization|synaptic transmission	actin cytoskeleton	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(4)|skin(1)	21		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.0677)			TGCTGCTGCCGTTCATAGTTT	0.652													4	111					0	0	1	0	0	A	39884518	G	A	39884518	3	1	222	1	0	0	0	0	1	0	0	0	6994	1144	40	1	744	1	HAP1	17	39884518	Missense_Mutation	SNP	G	TCGA-FG-A710-01A-12D-A33T-08	26976165	39884518	41310692	36	26041											
COL1A1	1277	broad.mit.edu	37	17	48265901	48265901	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr17:48265901C>T	ENST00000225964.5	-	43	3315	c.3197G>A	c.(3196-3198)cGt>cAt	p.R1066H		NM_000088.3	NP_000079	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	1066	Triple-helical region.		R -> C (in a patient with overlapping features of osteogenesis imperfecta and Ehlers-Danlos syndrome; pathogenic mutation; affects dimer formation, helix stability and organization of collagen fibrils).		axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)|Palifermin(DB00039)	AGTCTCACCACGATCACCACT	0.652			T	"PDGFB, USP6"	"dermatofibrosarcoma protuberans, aneurysmal bone cyst "		Osteogenesis imperfecta						24	57					0	0	1	0	0	T	48265901	C	T	48265901	3	4	222	1	0	0	0	0	1	0	0	0	3700	536	19	1	1233	1	COL1A1	17	48265901	Missense_Mutation	SNP	C	TCGA-FG-A710-01A-12D-A33T-08	8381383	48265901	32929309	37	26042											
LRRC45	201255	broad.mit.edu	37	17	79988540	79988540	+	Silent	SNP	T	T	C			TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr17:79988540T>C	ENST00000306688.3	+	17	2214	c.1872T>C	c.(1870-1872)tcT>tcC	p.S624S		NM_144999.2	NP_659436.1	Q96CN5	LRC45_HUMAN	leucine rich repeat containing 45	624						centrosome				lung(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	5	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)			AGAACGCGTCTCTCCGGGAGA	0.701													9	12					0	0	1	0	0	C	79988540	T	C	79988540	2	2	222	1	0	0	0	0	0	0	0	1	9047	1538	54	3		3	LRRC45	17	79988540	Silent	SNP	T	TCGA-FG-A710-01A-12D-A33T-08	31722639	79988540	1206670	38	26043											
ANKRD29	147463	broad.mit.edu	37	18	21226219	21226219	+	Silent	SNP	G	G	A			TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr18:21226219G>A	ENST00000592179.1	-	3	319	c.165C>T	c.(163-165)taC>taT	p.Y55Y	ANKRD29_ENST00000322980.9_Silent_p.Y55Y|ANKRD29_ENST00000284207.7_Silent_p.Y55Y	NM_173505.2	NP_775776.2	Q8N6D5	ANR29_HUMAN	ankyrin repeat domain 29	55										breast(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|skin(1)	13	all_cancers(21;5.07e-05)|all_epithelial(16;2.49e-07)|Lung NSC(20;0.00211)|all_lung(20;0.00676)|Colorectal(14;0.0202)|Ovarian(20;0.127)					TGTGGCCAGCGTAGGCAGCAA	0.512													13	86					0	0	1	0	0	A	21226219	G	A	21226219	2	1	222	1	0	0	0	0	0	0	0	1	653	1140	40	1		1	ANKRD29	18	21226219	Silent	SNP	G	TCGA-FG-A710-01A-12D-A33T-08		21226219	56851029	39	26044											
SEMA6B	10501	broad.mit.edu	37	19	4550875	4550875	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr19:4550875G>A	ENST00000586582.1	-	11	1367	c.1057C>T	c.(1057-1059)Cga>Tga	p.R353*	SEMA6B_ENST00000586965.1_Nonsense_Mutation_p.R353*|SEMA6B_ENST00000301293.3_Nonsense_Mutation_p.R353*	NM_032108.3	NP_115484.2	Q9H3T3	SEM6B_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6B	353	Sema.				cell differentiation|nervous system development	integral to membrane	receptor activity			breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		TTCTGCTCTCGGAAGCGGCCT	0.627													7	145					0	0	1	0	0	A	4550875	G	A	4550875	4	1	222	1	0	0	0	0	0	1	0	0	14094	1124	39	1	1637	1	SEMA6B	19	4550875	Nonsense_Mutation	SNP	G	TCGA-FG-A710-01A-12D-A33T-08		4550875	54578108	40	26045											
CHST8	64377	broad.mit.edu	37	19	34180275	34180275	+	Missense_Mutation	SNP	G	G	T			TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr19:34180275G>T	ENST00000262622.4	+	2	866	c.108G>T	c.(106-108)gaG>gaT	p.E36D	CHST8_ENST00000434302.1_Missense_Mutation_p.E36D|CHST8_ENST00000604556.1_3'UTR|CHST8_ENST00000438847.3_Missense_Mutation_p.E36D	NM_022467.3	NP_071912.2	Q9H2A9	CHST8_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8						carbohydrate biosynthetic process|central nervous system development|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(5)	27	Esophageal squamous(110;0.162)					ACCCTACGGAGCTCGCCCCCC	0.637													8	121					1.26484e-09	1.34645e-09	1	1	0	T	34180275	G	T	34180275	3	4	222	1	0	0	0	0	1	0	0	0	3432	962	34	4	110	4	CHST8	19	34180275	Missense_Mutation	SNP	G	TCGA-FG-A710-01A-12D-A33T-08	29629400	34180275	24948708	41	26046											
CIC	23152	broad.mit.edu	37	19	42791799	42791799	+	Missense_Mutation	SNP	A	A	C			TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr19:42791799A>C	ENST00000572681.2	+	6	3480	c.3412A>C	c.(3412-3414)Acc>Ccc	p.T1138P	CIC_ENST00000160740.3_Missense_Mutation_p.T229P|CIC_ENST00000575354.2_Missense_Mutation_p.T229P			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	229	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				GGACAACCGGACCGTCAGCAA	0.617			"Mis, F, S"		oligodendroglioma								45	18					0	0	1	0	0	C	42791799	A	C	42791799	3	2	222	1	0	0	0	0	1	0	0	0	3446	275	10	5	703	5	CIC	19	42791799	Missense_Mutation	SNP	A	TCGA-FG-A710-01A-12D-A33T-08	8611524	42791799	16337184	42	26047											
XRCC1	7515	broad.mit.edu	37	19	44079106	44079106	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr19:44079106G>A	ENST00000262887.5	-	2	647	c.100C>T	c.(100-102)Cgg>Tgg	p.R34W	XRCC1_ENST00000543982.1_Intron|L34079.4_ENST00000600242.1_RNA|L34079.2_ENST00000594374.1_Intron			P18887	XRCC1_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 1	34					base-excision repair|single strand break repair	nucleoplasm	damaged DNA binding|protein binding			breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Prostate(69;0.0153)				TTGGCTGCCCGCCATTTTCGG	0.552								Other BER factors					3	51					0	0	1	0	0	A	44079106	G	A	44079106	3	1	222	1	0	0	0	0	1	0	0	0	17512	1086	38	1	1865	1	XRCC1	19	44079106	Missense_Mutation	SNP	G	TCGA-FG-A710-01A-12D-A33T-08	1287307	44079106	15049877	43	26048											
ADNP	23394	broad.mit.edu	37	20	49509063	49509063	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr20:49509063G>A	ENST00000396029.3	-	5	2755	c.2188C>T	c.(2188-2190)Cga>Tga	p.R730*	ADNP_ENST00000371602.4_Nonsense_Mutation_p.R730*|ADNP_ENST00000396032.3_Nonsense_Mutation_p.R730*|ADNP_ENST00000349014.3_Nonsense_Mutation_p.R730*	NM_001282531.1|NM_015339.2	NP_001269460.1|NP_056154.1	Q9H2P0	ADNP_HUMAN	activity-dependent neuroprotector homeobox	730						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(4)|endometrium(7)|kidney(1)|large_intestine(13)|lung(7)|ovary(2)|prostate(2)|skin(2)	39						TCTAACTTTCGTTTTTTCAGT	0.443													20	197					0	0	1	0	0	A	49509063	G	A	49509063	4	1	222	1	0	0	0	0	0	1	0	0	322	1153	40	1	1124	1	ADNP	20	49509063	Nonsense_Mutation	SNP	G	TCGA-FG-A710-01A-12D-A33T-08		49509063	13516457	44	26049											
KRTAP19-8	728299	broad.mit.edu	37	21	32410673	32410673	+	Silent	SNP	G	G	A			TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr21:32410673G>A	ENST00000382822.2	-	1	122	c.90C>T	c.(88-90)ggC>ggT	p.G30G		NM_001099219.1	NP_001092689.1	Q3LI54	KR198_HUMAN	keratin associated protein 19-8	30						intermediate filament				endometrium(2)|upper_aerodigestive_tract(1)	3						TGCGGAAGCTGCCATAGCCGC	0.537													24	252					0	0	1	0	0	A	32410673	G	A	32410673	2	1	222	1	0	0	0	0	0	0	0	1	8578	1306	46	2		2	KRTAP19-8	21	32410673	Silent	SNP	G	TCGA-FG-A710-01A-12D-A33T-08		32410673	15719222	45	26050											
BRWD1	54014	broad.mit.edu	37	21	40570895	40570895	+	Missense_Mutation	SNP	G	G	T			TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr21:40570895G>T	ENST00000342449.3	-	40	5525	c.5447C>A	c.(5446-5448)aCc>aAc	p.T1816N	BRWD1_ENST00000380800.3_Missense_Mutation_p.T1816N|BRWD1_ENST00000333229.2_Missense_Mutation_p.T1816N	NM_033656.3	NP_387505.1	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	1816					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		p.T1816N(2)		cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				CAGAATCTTGGTTTTTTTAAA	0.388													20	309					1.00905e-13	1.09176e-13	1	1	0	T	40570895	G	T	40570895	3	4	222	1	0	0	0	0	1	0	0	0	1527	1261	44	5	1766	5	BRWD1	21	40570895	Missense_Mutation	SNP	G	TCGA-FG-A710-01A-12D-A33T-08	8160222	40570895	7559000	46	26051											
KRTAP10-7	386675	broad.mit.edu	37	21	46020910	46020910	+	Missense_Mutation	SNP	G	G	C			TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr21:46020910G>C	ENST00000380102.2	+	1	414	c.389G>C	c.(388-390)tGt>tCt	p.C130S	TSPEAR_ENST00000323084.4_Intron	NM_198689.2	NP_941962.1	P60409	KR107_HUMAN	keratin associated protein 10-7	130	30 X 5 AA repeats of C-C-X(3).					keratin filament				breast(1)|large_intestine(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8						CCTGTGTACTGTGTGCCTGTC	0.632													22	446					0	0	1	0	0	C	46020910	G	C	46020910	3	2	222	1	0	0	0	0	1	0	0	0	8557	1377	48	5	380	5	KRTAP10-7	21	46020910	Missense_Mutation	SNP	G	TCGA-FG-A710-01A-12D-A33T-08	5450015	46020910	2108985	47	26052											
EFCAB6	64800	broad.mit.edu	37	22	44079702	44079702	+	Silent	SNP	G	G	A			TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr22:44079702G>A	ENST00000262726.7	-	12	1429	c.1176C>T	c.(1174-1176)aaC>aaT	p.N392N	EFCAB6_ENST00000396231.2_Silent_p.N240N|EFCAB6_ENST00000358439.4_Intron	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	392					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				TTGTGATGATGTTTTCCTTGT	0.348													5	196					0	0	1	0	0	A	44079702	G	A	44079702	2	1	222	1	0	0	0	0	0	0	0	1	4965	1368	48	2		2	EFCAB6	22	44079702	Silent	SNP	G	TCGA-FG-A710-01A-12D-A33T-08		44079702	7224864	48	26053											
SH3KBP1	30011	broad.mit.edu	37	X	19713790	19713790	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chrX:19713790C>T	ENST00000397821.3	-	5	750	c.460G>A	c.(460-462)Gag>Aag	p.E154K	SH3KBP1_ENST00000379698.4_Missense_Mutation_p.E117K|SH3KBP1_ENST00000379697.3_Missense_Mutation_p.E154K	NM_031892.2	NP_114098.1	Q96B97	SH3K1_HUMAN	SH3-domain kinase binding protein 1	154	SH3 2.				apoptosis|cell-cell signaling|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	cytoplasmic vesicle membrane|cytoskeleton|cytosol|focal adhesion|nucleus|synapse|synaptosome	SH3 domain binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(4)	29						CCTGACAGCTCCTTGATGAAG	0.512													5	240					0	0	1	0	0	T	19713790	C	T	19713790	3	4	222	1	0	0	0	0	1	0	0	0	14310	864	30	2	1609	2	SH3KBP1	23	19713790	Missense_Mutation	SNP	C	TCGA-FG-A710-01A-12D-A33T-08		19713790	135556770	49	26054											
WNK3	65267	broad.mit.edu	37	X	54259292	54259292	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chrX:54259292C>T	ENST00000354646.2	-	21	5228	c.4790G>A	c.(4789-4791)cGa>cAa	p.R1597Q	WNK3_ENST00000375169.3_Missense_Mutation_p.R1550Q|WNK3_ENST00000375159.2_Missense_Mutation_p.R1597Q	NM_020922.4	NP_065973.2	Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3	1550					intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation	adherens junction|tight junction	ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity			autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						GGGGCGGCTTCGAAGTTTGCT	0.418													92	150					0	0	1	0	0	T	54259292	C	T	54259292	3	4	222	1	0	0	0	0	1	0	0	0	17439	884	31	1	628	1	WNK3	23	54259292	Missense_Mutation	SNP	C	TCGA-FG-A710-01A-12D-A33T-08	34545502	54259292	101011268	50	26055											
NAP1L2	4674	broad.mit.edu	37	X	72433964	72433964	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chrX:72433964G>A	ENST00000373517.3	-	1	720	c.365C>T	c.(364-366)gCg>gTg	p.A122V	NAP1L2_ENST00000536638.1_5'UTR	NM_021963.3	NP_068798.1	Q9ULW6	NP1L2_HUMAN	nucleosome assembly protein 1-like 2	122					nucleosome assembly	chromatin assembly complex				NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3)	29	Renal(35;0.156)					TAAATTGGCCGCTCTAGTTTG	0.373													90	155					0	0	1	0	0	A	72433964	G	A	72433964	3	1	222	1	0	0	0	0	1	0	0	0	10205	1087	38	1	1021	1	NAP1L2	23	72433964	Missense_Mutation	SNP	G	TCGA-FG-A710-01A-12D-A33T-08	18174672	72433964	82836596	51	26056											
ABCB7	22	broad.mit.edu	37	X	74290346	74290346	+	Missense_Mutation	SNP	C	C	A			TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chrX:74290346C>A	ENST00000253577.3	-	10	1246	c.1222G>T	c.(1222-1224)Gtt>Ttt	p.V408F	ABCB7_ENST00000339447.4_Missense_Mutation_p.V367F|ABCB7_ENST00000373394.3_Missense_Mutation_p.V407F|ABCB7_ENST00000534570.1_5'UTR	NM_001271696.1|NM_004299.3	NP_001258625.1|NP_004290.2	O75027	ABCB7_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 7	407	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						AGATCTCCAACAGTAAGGGTA	0.358													13	273					0.00185496	0.00185496	1	1	0	A	74290346	C	A	74290346	3	1	222	1	0	0	0	0	1	0	0	0	46	478	17	5	1067	5	ABCB7	23	74290346	Missense_Mutation	SNP	C	TCGA-FG-A710-01A-12D-A33T-08	1856382	74290346	80980214	52	26057											
SAGE1	55511	broad.mit.edu	37	X	134988634	134988634	+	Silent	SNP	C	C	T			TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chrX:134988634C>T	ENST00000535938.1	+	7	827	c.660C>T	c.(658-660)aaC>aaT	p.N220N	SAGE1_ENST00000370709.3_Silent_p.N220N|SAGE1_ENST00000324447.3_Silent_p.N220N|SAGE1_ENST00000537770.1_Intron	NM_018666.2	NP_061136.2	Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	220										breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55	Acute lymphoblastic leukemia(192;0.000127)					CACCTGATAACGTGTTGTTGA	0.423													150	513					0	0	1	0	0	T	134988634	C	T	134988634	2	4	222	1	0	0	0	0	0	0	0	1	13861	535	19	1		1	SAGE1	23	134988634	Silent	SNP	C	TCGA-FG-A710-01A-12D-A33T-08	60698288	134988634	20281926	53	26058											
MTMR1	8776	broad.mit.edu	37	X	149924318	149924318	+	Missense_Mutation	SNP	A	A	G			TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chrX:149924318A>G	ENST00000445323.2	+	15	1959	c.1838A>G	c.(1837-1839)aAt>aGt	p.N613S	MTMR1_ENST00000544228.1_Missense_Mutation_p.N605S|MTMR1_ENST00000370390.3_Missense_Mutation_p.N605S|MTMR1_ENST00000541925.1_Missense_Mutation_p.N511S|MTMR1_ENST00000538506.1_3'UTR			Q13613	MTMR1_HUMAN	myotubularin related protein 1	605						plasma membrane	protein tyrosine phosphatase activity			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					GTACGATGGAATCCACGGATG	0.343													79	119					0	0	1	0	0	G	149924318	A	G	149924318	3	3	222	1	0	0	0	0	1	0	0	0	9986	101	4	3	1868	3	MTMR1	23	149924318	Missense_Mutation	SNP	A	TCGA-FG-A710-01A-12D-A33T-08	14935684	149924318	5346242	54	26059											
CLCNKB	1188	broad.mit.edu	37	1	16375046	16375046	+	Silent	SNP	C	C	T			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr1:16375046C>T	ENST00000375679.4	+	7	735	c.624C>T	c.(622-624)ggC>ggT	p.G208G		NM_000085.4	NP_000076.2			chloride channel, voltage-sensitive Kb											breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	21		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)		CGGCAGTGGGCGTGGCCACAG	0.657													21	50					0	0	1	0	0	T	16375046	C	T	16375046	2	4	223	1	0	0	0	0	0	0	0	1	3493	755	27	1		1	CLCNKB	1	16375046	Silent	SNP	C	TCGA-FG-A711-01A-21D-A33T-08		16375046	232875575	1	26060											
AMPD1	270	broad.mit.edu	37	1	115231189	115231189	+	Missense_Mutation	SNP	C	C	A			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr1:115231189C>A	ENST00000369538.3	-	2	342	c.295G>T	c.(295-297)Gcc>Tcc	p.A99S	AMPD1_ENST00000520113.2_Missense_Mutation_p.A103S|AMPD1_ENST00000353928.6_Missense_Mutation_p.A70S	NM_001172626.1	NP_001166097.1	P23109	AMPD1_HUMAN	adenosine monophosphate deaminase 1	70					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	Adenosine monophosphate(DB00131)	TACCTCCTGGCTTCTGTGGAG	0.468													7	206					2.0095e-06	2.08302e-06	1	1	0	A	115231189	C	A	115231189	3	1	223	1	0	0	0	0	1	0	0	0	581	797	28	4	2091	4	AMPD1	1	115231189	Missense_Mutation	SNP	C	TCGA-FG-A711-01A-21D-A33T-08	98856143	115231189	134019432	2	26061											
DENND4B	9909	broad.mit.edu	37	1	153907309	153907309	+	Silent	SNP	C	C	T			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr1:153907309C>T	ENST00000361217.4	-	18	3118	c.2700G>A	c.(2698-2700)caG>caA	p.Q900Q		NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	900	Gln-rich.							p.Q788Q(1)|p.Q900Q(1)		NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			gctgctgttgctgctgctgct	0.642													4	124					0	0	1	0	0	T	153907309	C	T	153907309	2	4	223	1	0	0	0	0	0	0	0	1	4462	796	28	2		2	DENND4B	1	153907309	Silent	SNP	C	TCGA-FG-A711-01A-21D-A33T-08	38676120	153907309	95343312	3	26062											
OR2T5	401993	broad.mit.edu	37	1	248651994	248651994	+	Silent	SNP	C	C	A			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr1:248651994C>A	ENST00000366473.2	+	1	110	c.105C>A	c.(103-105)atC>atA	p.I35I		NM_001004697.1	NP_001004697.1	Q6IEZ7	OR2T5_HUMAN	olfactory receptor, family 2, subfamily T, member 5	35					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|ovary(2)|pancreas(1)|skin(2)	9	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GTGTGGTCATCTTTGTGGTTT	0.488													9	332					1.41608e-15	1.52363e-15	1	1	0	A	248651994	C	A	248651994	2	1	223	1	0	0	0	0	0	0	0	1	11076	903	32	4		4	OR2T5	1	248651994	Silent	SNP	C	TCGA-FG-A711-01A-21D-A33T-08	94744685	248651994	598627	4	26063											
ODC1	4953	broad.mit.edu	37	2	10582221	10582221	+	Missense_Mutation	SNP	C	C	A			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr2:10582221C>A	ENST00000234111.4	-	9	1340	c.830G>T	c.(829-831)aGa>aTa	p.R277I	ODC1_ENST00000405333.1_Missense_Mutation_p.R277I	NM_002539.1	NP_002530.1	P11926	DCOR_HUMAN	ornithine decarboxylase 1	277					polyamine biosynthetic process|regulation of cellular amino acid metabolic process|response to virus	cytosol	ornithine decarboxylase activity|protein binding			NS(1)|central_nervous_system(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|skin(3)	19	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.161)	Pyridoxal Phosphate(DB00114)|Spermine(DB00127)	AACATAGTATCTGCCGGGCTC	0.433													120	103					2.54773e-45	2.81243e-45	1	1	0	A	10582221	C	A	10582221	3	1	223	1	0	0	0	0	1	0	0	0	10873	913	32	4	571	4	ODC1	2	10582221	Missense_Mutation	SNP	C	TCGA-FG-A711-01A-21D-A33T-08		10582221	232617152	5	26064											
GALNT14	79623	broad.mit.edu	37	2	31167747	31167747	+	Silent	SNP	G	G	A			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr2:31167747G>A	ENST00000349752.5	-	8	1443	c.804C>T	c.(802-804)cgC>cgT	p.R268R	GALNT14_ENST00000486564.1_5'UTR|GALNT14_ENST00000324589.5_Silent_p.R273R|GALNT14_ENST00000420311.2_Silent_p.R233R|GALNT14_ENST00000406653.1_Silent_p.R248R|GALNT14_ENST00000356174.3_Silent_p.R235R	NM_024572.3	NP_078848.2	Q96FL9	GLT14_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14)	268						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)	43	Acute lymphoblastic leukemia(172;0.155)					TGGGGTCCAGGCGCCGAGCCT	0.587													38	73					0	0	1	0	0	A	31167747	G	A	31167747	2	1	223	1	0	0	0	0	0	0	0	1	6252	1190	42	2		2	GALNT14	2	31167747	Silent	SNP	G	TCGA-FG-A711-01A-21D-A33T-08	20585526	31167747	212031626	6	26065											
SLC9A4	389015	broad.mit.edu	37	2	103120021	103120021	+	Silent	SNP	T	T	C			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr2:103120021T>C	ENST00000295269.4	+	3	1292	c.835T>C	c.(835-837)Ttg>Ctg	p.L279L		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	279					regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						TGGAGGGGTATTGTTTGGCAT	0.398													65	94					0	0	1	0	0	C	103120021	T	C	103120021	2	2	223	1	0	0	0	0	0	0	0	1	14771	1490	52	3		3	SLC9A4	2	103120021	Silent	SNP	T	TCGA-FG-A711-01A-21D-A33T-08	71952274	103120021	140079352	7	26066											
DYNC1I2	1781	broad.mit.edu	37	2	172585349	172585349	+	Silent	SNP	C	C	T			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr2:172585349C>T	ENST00000534253.2	+	14	1548	c.1380C>T	c.(1378-1380)tgC>tgT	p.C460C	DYNC1I2_ENST00000409773.1_Silent_p.C460C|DYNC1I2_ENST00000397119.3_Silent_p.C460C|DYNC1I2_ENST00000508530.1_Silent_p.C434C|DYNC1I2_ENST00000409197.1_Silent_p.C434C|DYNC1I2_ENST00000410079.3_Silent_p.C452C|DYNC1I2_ENST00000409453.1_Silent_p.C460C|DYNC1I2_ENST00000358002.6_Silent_p.C452C|DYNC1I2_ENST00000340296.4_Silent_p.C434C|DYNC1I2_ENST00000263811.4_Silent_p.C454C|DYNC1I2_ENST00000409317.1_Silent_p.C454C			Q13409	DC1I2_HUMAN	dynein, cytoplasmic 1, intermediate chain 2	460					G2/M transition of mitotic cell cycle|interspecies interaction between organisms|microtubule-based movement|transport	centrosome|cytosol|dynein complex|microtubule|vesicle	microtubule motor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)	15			OV - Ovarian serous cystadenocarcinoma(117;0.198)			ACACAGCATGCCGCCATGGCA	0.388													3	35					0	0	1	0	0	T	172585349	C	T	172585349	2	4	223	1	0	0	0	0	0	0	0	1	4869	747	26	2		2	DYNC1I2	2	172585349	Silent	SNP	C	TCGA-FG-A711-01A-21D-A33T-08	69465328	172585349	70614024	8	26067											
SGOL2	151246	broad.mit.edu	37	2	201438253	201438253	+	Missense_Mutation	SNP	A	A	G			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr2:201438253A>G	ENST00000357799.4	+	7	3282	c.3184A>G	c.(3184-3186)Ata>Gta	p.I1062V		NM_001160033.1|NM_001160046.1|NM_152524.5	NP_001153505.1|NP_001153518.1|NP_689737.4	Q562F6	SGOL2_HUMAN	shugoshin-like 2 (S. pombe)	1062					cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol|mitotic cohesin complex	protein binding			NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						TGTGGAAGAAATAAAAGAAGG	0.378													82	133					0	0	1	0	0	G	201438253	A	G	201438253	3	3	223	1	0	0	0	0	1	0	0	0	14271	101	4	3	3206	3	SGOL2	2	201438253	Missense_Mutation	SNP	A	TCGA-FG-A711-01A-21D-A33T-08	28852904	201438253	41761120	9	26068											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								53	112					0	0	1	0	0	T	209113112	C	T	209113112	3	4	223	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-FG-A711-01A-21D-A33T-08	7674859	209113112	34086261	10	26069											
ATG4B	23192	broad.mit.edu	37	2	242594686	242594686	+	Splice_Site	SNP	C	C	A			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr2:242594686C>A	ENST00000405546.3	+	6	888	c.386C>A	c.(385-387)gCg>gAg	p.A129E	ATG4B_ENST00000402096.1_Splice_Site_p.A55E|ATG4B_ENST00000404914.3_Splice_Site_p.A129E|ATG4B_ENST00000396411.3_Splice_Site_p.A55E|ATG4B_ENST00000474739.2_Splice_Site_p.A115E			Q9Y4P1	ATG4B_HUMAN	autophagy related 4B, cysteine peptidase	129					autophagic vacuole assembly|protein transport|proteolysis	cytoplasm	cysteine-type peptidase activity|protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;2.44e-33)|all cancers(36;5.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.75e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0848)		TTCCCTGCAGCGCAAATGGGA	0.597													3	23					0.150653	0.150653	1	1	0	A	242594686	C	A	242594686	5	1	223	1	0	0	0	0	0	0	1	0	1096	782	27	5	408	5	ATG4B	2	242594686	Splice_Site	SNP	C	TCGA-FG-A711-01A-21D-A33T-08	33481574	242594686	604687	11	26070											
CDCP1	64866	broad.mit.edu	37	3	45134906	45134906	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr3:45134906G>A	ENST00000296129.1	-	6	1624	c.1490C>T	c.(1489-1491)tCc>tTc	p.S497F		NM_022842.3	NP_073753.3	Q9H5V8	CDCP1_HUMAN	CUB domain containing protein 1	497	CUB.					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)		CGGGCAGAAGGAGCCGAAGTA	0.597													37	80					0	0	1	0	0	A	45134906	G	A	45134906	3	1	223	1	0	0	0	0	1	0	0	0	3115	1174	41	2	1036	2	CDCP1	3	45134906	Missense_Mutation	SNP	G	TCGA-FG-A711-01A-21D-A33T-08		45134906	152887524	12	26071											
KALRN	8997	broad.mit.edu	37	3	123987699	123987699	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr3:123987699G>A	ENST00000360013.3	+	5	687	c.560G>A	c.(559-561)cGg>cAg	p.R187Q	KALRN_ENST00000460856.1_Missense_Mutation_p.R187Q|KALRN_ENST00000240874.3_Missense_Mutation_p.R187Q	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	187					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						ATCGAACTGCGGCTCTCCCTG	0.602													4	78					0	0	1	0	0	A	123987699	G	A	123987699	3	1	223	1	0	0	0	0	1	0	0	0	8019	1116	39	1	578	1	KALRN	3	123987699	Missense_Mutation	SNP	G	TCGA-FG-A711-01A-21D-A33T-08	78852793	123987699	74034731	13	26072											
MUC4	4585	broad.mit.edu	37	3	195507717	195507717	+	Silent	SNP	G	G	T			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr3:195507717G>T	ENST00000463781.3	-	2	11193	c.10734C>A	c.(10732-10734)tcC>tcA	p.S3578S	MUC4_ENST00000475231.1_Silent_p.S3578S|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	376					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	p.S3578S(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		TGTCACCTGTGGATACTGAGG	0.587													2	1					6.4e-05	6.47619e-05	1	1	0	T	195507717	G	T	195507717	2	4	223	1	0	0	0	0	0	0	0	1	10026	1335	47	5		5	MUC4	3	195507717	Silent	SNP	G	TCGA-FG-A711-01A-21D-A33T-08	71520018	195507717	2514713	14	26073											
PGM2	55276	broad.mit.edu	37	4	37857282	37857282	+	Silent	SNP	A	A	G			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr4:37857282A>G	ENST00000381967.4	+	13	1756	c.1656A>G	c.(1654-1656)ggA>ggG	p.G552G	PGM2_ENST00000537241.1_Silent_p.G392G	NM_018290.3	NP_060760.2	Q96G03	PGM2_HUMAN	phosphoglucomutase 2	552					glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	magnesium ion binding|phosphoglucomutase activity|phosphopentomutase activity			breast(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1)	19						TTGCTAATGGAGGCGTGGCCA	0.468													4	149					0	0	1	0	0	G	37857282	A	G	37857282	2	3	223	1	0	0	0	0	0	0	0	1	11846	291	11	3		3	PGM2	4	37857282	Silent	SNP	A	TCGA-FG-A711-01A-21D-A33T-08		37857282	153296994	15	26074											
MTTP	4547	broad.mit.edu	37	4	100540154	100540154	+	Frame_Shift_Del	DEL	A	A	-			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr4:100540154delA	ENST00000457717.1	+	17	2497	c.2241delA	c.(2239-2241)ctafs	p.L747fs	MTTP_ENST00000265517.5_Frame_Shift_Del_p.L747fs|MTTP_ENST00000511045.1_Frame_Shift_Del_p.L774fs|RP11-766F14.1_ENST00000508578.1_RNA	NM_000253.2	NP_000244.2	P55157	MTP_HUMAN	microsomal triglyceride transfer protein	747					lipid metabolic process|lipoprotein metabolic process	endoplasmic reticulum lumen	lipid binding|lipid transporter activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)	AATCTGGACTAAAAGCCAATA	0.348													21	263	---	---	---	---						-	100540154	A	-	100540154	7	5	223	1	0	1	0	1	0	0	0	0	10012	349	13	0	2303	0	MTTP	4	100540154	Frame_Shift_Del	DEL	A	TCGA-FG-A711-01A-21D-A33T-08	62682872	100540154	90614122	16	26075											
TACR3	6870	broad.mit.edu	37	4	104640397	104640397	+	Missense_Mutation	SNP	C	C	G			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr4:104640397C>G	ENST00000304883.2	-	1	576	c.436G>C	c.(436-438)Gcg>Ccg	p.A146P		NM_001059.2	NP_001050.1	P29371	NK3R_HUMAN	tachykinin receptor 3	146						integral to plasma membrane	tachykinin receptor activity			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		CTATGAAGCGCGTAGATGAAA	0.532													38	62					0	0	1	0	0	G	104640397	C	G	104640397	3	3	223	1	0	0	0	0	1	0	0	0	15564	768	27	5	981	5	TACR3	4	104640397	Missense_Mutation	SNP	C	TCGA-FG-A711-01A-21D-A33T-08	4100243	104640397	86513879	17	26076											
PTCD2	79810	broad.mit.edu	37	5	71638862	71638862	+	Splice_Site	SNP	A	A	G			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr5:71638862A>G	ENST00000380639.5	+	8	843	c.827A>G	c.(826-828)aAt>aGt	p.N276S	PTCD2_ENST00000460837.2_3'UTR|PTCD2_ENST00000503868.1_Splice_Site_p.N167S|PTCD2_ENST00000536805.1_Splice_Site_p.N104S|PTCD2_ENST00000543322.1_3'UTR	NM_024754.3	NP_079030.3	Q8WV60	PTCD2_HUMAN	pentatricopeptide repeat domain 2	276										breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(1)|skin(1)	11		Lung NSC(167;0.00237)|Ovarian(174;0.0175)|Prostate(461;0.141)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.73e-53)		ATTAATTTAAATGTAAGTGAT	0.269													17	140					0	0	1	0	0	G	71638862	A	G	71638862	5	3	223	1	0	0	0	0	0	0	1	0	12777	115	4	3	857	3	PTCD2	5	71638862	Splice_Site	SNP	A	TCGA-FG-A711-01A-21D-A33T-08		71638862	109276398	18	26077											
ZFYVE16	9765	broad.mit.edu	37	5	79734068	79734068	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr5:79734068G>A	ENST00000338008.5	+	3	1744	c.1564G>A	c.(1564-1566)Gca>Aca	p.A522T	ZFYVE16_ENST00000505560.1_Missense_Mutation_p.A522T|ZFYVE16_ENST00000510158.1_Missense_Mutation_p.A522T	NM_001284236.1|NM_014733.3	NP_001271165.1|NP_055548	Q7Z3T8	ZFY16_HUMAN	zinc finger, FYVE domain containing 16	522					BMP signaling pathway|endosome transport|protein targeting to lysosome|regulation of endocytosis|vesicle organization	early endosome membrane	1-phosphatidylinositol binding|metal ion binding|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|protein transporter activity	p.A522T(1)		breast(4)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|liver(1)|lung(6)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;1.6e-46)|Epithelial(54;2.02e-41)|all cancers(79;5.05e-36)		TGATGAAGGCGCAAAAAGTGG	0.353													4	191					0	0	1	0	0	A	79734068	G	A	79734068	3	1	223	1	0	0	0	0	1	0	0	0	17722	1087	38	1	1570	1	ZFYVE16	5	79734068	Missense_Mutation	SNP	G	TCGA-FG-A711-01A-21D-A33T-08	8095206	79734068	101181192	19	26078											
CHD1	1105	broad.mit.edu	37	5	98232063	98232063	+	Missense_Mutation	SNP	T	T	A			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr5:98232063T>A	ENST00000284049.3	-	11	1726	c.1577A>T	c.(1576-1578)gAa>gTa	p.E526V		NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	526	Helicase ATP-binding.				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding			NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	TAATTGATGTTCATGAAACAA	0.368													28	134					0	0	1	0	0	A	98232063	T	A	98232063	3	1	223	1	0	0	0	0	1	0	0	0	3345	1783	62	5	3655	5	CHD1	5	98232063	Missense_Mutation	SNP	T	TCGA-FG-A711-01A-21D-A33T-08	18497995	98232063	82683197	20	26079											
PCDHGA3	56112	broad.mit.edu	37	5	140725473	140725473	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr5:140725473G>A	ENST00000253812.6	+	1	1873	c.1873G>A	c.(1873-1875)Gag>Aag	p.E625K	PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1														breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCACACGGGCGAGGTGCGCAC	0.701													9	150					0	0	1	0	0	A	140725473	G	A	140725473	3	1	223	1	0	0	0	0	1	0	0	0	11602	1059	37	1	1875	1	PCDHGA3	5	140725473	Missense_Mutation	SNP	G	TCGA-FG-A711-01A-21D-A33T-08	42493410	140725473	40189787	21	26080											
KIAA0319	9856	broad.mit.edu	37	6	24582557	24582557	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr6:24582557C>T	ENST00000535378.1	-	7	1726	c.1084G>A	c.(1084-1086)Gaa>Aaa	p.E362K	KIAA0319_ENST00000378214.3_Missense_Mutation_p.E371K|KIAA0319_ENST00000430948.2_Missense_Mutation_p.E326K|KIAA0319_ENST00000537886.1_Missense_Mutation_p.E371K|KIAA0319_ENST00000543707.1_Missense_Mutation_p.E371K	NM_001168374.1	NP_001161846.1	Q5VV43	K0319_HUMAN	KIAA0319	371	PKD 1.				negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding			breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						AAATTCCATTCATAGTTGTAG	0.388													80	176					0	0	1	0	0	T	24582557	C	T	24582557	3	4	223	1	0	0	0	0	1	0	0	0	8210	835	29	2	2171	2	KIAA0319	6	24582557	Missense_Mutation	SNP	C	TCGA-FG-A711-01A-21D-A33T-08		24582557	146532510	22	26081											
GSTA2	2939	broad.mit.edu	37	6	52616504	52616504	+	Silent	SNP	G	G	T			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr6:52616504G>T	ENST00000493422.1	-	6	572	c.417C>A	c.(415-417)gtC>gtA	p.V139V		NM_000846.4	NP_000837.3	P09210	GSTA2_HUMAN	glutathione S-transferase alpha 2	139	GST C-terminal.				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Lung NSC(77;0.118)				Aminophenazone(DB01424)|Amsacrine(DB00276)|Busulfan(DB01008)|Chlorambucil(DB00291)|Chloroquine(DB00608)|Cinnarizine(DB00568)|Clofibrate(DB00636)|Ethacrynic acid(DB00903)|Glutathione(DB00143)|Mechlorethamine(DB00888)|Praziquantel(DB01058)|Vitamin E(DB00163)	GGCTCTTTAAGACCTGGAGAA	0.542													83	129					7.49063e-41	8.16287e-41	1	1	0	T	52616504	G	T	52616504	2	4	223	1	0	0	0	0	0	0	0	1	6872	929	33	4		4	GSTA2	6	52616504	Silent	SNP	G	TCGA-FG-A711-01A-21D-A33T-08	28033947	52616504	118498563	23	26082											
NT5DC1	221294	broad.mit.edu	37	6	116544280	116544280	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr6:116544280C>T	ENST00000319550.4	+	8	870	c.788C>T	c.(787-789)cCt>cTt	p.P263L		NM_152729.2	NP_689942.2	Q5TFE4	NT5D1_HUMAN	5'-nucleotidase domain containing 1	263							hydrolase activity|metal ion binding			large_intestine(2)|lung(2)|prostate(2)|skin(1)|stomach(1)	8		all_cancers(87;0.00367)|all_epithelial(87;0.00449)|Colorectal(196;0.0469)		all cancers(137;0.0327)|OV - Ovarian serous cystadenocarcinoma(136;0.0445)|GBM - Glioblastoma multiforme(226;0.0719)|Epithelial(106;0.112)		AGTCAGAGACCTTTCCGGACA	0.398													77	152					0	0	1	0	0	T	116544280	C	T	116544280	3	4	223	1	0	0	0	0	1	0	0	0	10738	681	24	2	818	2	NT5DC1	6	116544280	Missense_Mutation	SNP	C	TCGA-FG-A711-01A-21D-A33T-08	63927776	116544280	54570787	24	26083											
CCR6	1235	broad.mit.edu	37	6	167550306	167550306	+	Silent	SNP	C	C	T			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr6:167550306C>T	ENST00000341935.5	+	3	1140	c.588C>T	c.(586-588)gtC>gtT	p.V196V	CCR6_ENST00000349984.4_Silent_p.V196V|RP11-517H2.6_ENST00000609590.1_RNA|CCR6_ENST00000400926.2_Silent_p.V196V	NM_031409.3	NP_113597.2	P51684	CCR6_HUMAN	chemokine (C-C motif) receptor 6	196					cellular defense response|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|humoral immune response	integral to plasma membrane	C-C chemokine receptor activity			endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)	14		Breast(66;1.53e-05)|Ovarian(120;0.0606)		OV - Ovarian serous cystadenocarcinoma(33;8.21e-20)|BRCA - Breast invasive adenocarcinoma(81;4.55e-06)|GBM - Glioblastoma multiforme(31;0.00507)		GCAGCGATGTCTGTGAACCCA	0.483													6	153					0	0	1	0	0	T	167550306	C	T	167550306	2	4	223	1	0	0	0	0	0	0	0	1	2967	900	32	2		2	CCR6	6	167550306	Silent	SNP	C	TCGA-FG-A711-01A-21D-A33T-08	51006026	167550306	3564761	25	26084											
SLC18A1	6570	broad.mit.edu	37	8	20038418	20038418	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr8:20038418G>A	ENST00000440926.1	-	3	528	c.58C>T	c.(58-60)Cgg>Tgg	p.R20W	SLC18A1_ENST00000437980.1_Missense_Mutation_p.R20W|SLC18A1_ENST00000265808.7_Missense_Mutation_p.R20W|SLC18A1_ENST00000276373.5_Missense_Mutation_p.R20W|SLC18A1_ENST00000519026.1_Missense_Mutation_p.R20W|SLC18A1_ENST00000381608.4_Missense_Mutation_p.R20W	NM_001135691.2	NP_001129163.1	P54219	VMAT1_HUMAN	solute carrier family 18 (vesicular monoamine transporter), member 1	20					neurotransmitter transport	clathrin sculpted monoamine transport vesicle membrane|integral to membrane|membrane fraction	drug transmembrane transporter activity|monoamine transmembrane transporter activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29				Colorectal(74;0.0747)		ACCAGCTGCCGGGACGCTCTC	0.587													20	21					0	0	1	0	0	A	20038418	G	A	20038418	3	1	223	1	0	0	0	0	1	0	0	0	14480	1115	39	1	1579	1	SLC18A1	8	20038418	Missense_Mutation	SNP	G	TCGA-FG-A711-01A-21D-A33T-08		20038418	126325604	26	26085											
LZTS1	11178	broad.mit.edu	37	8	20112535	20112535	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr8:20112535C>T	ENST00000381569.1	-	2	515	c.158G>A	c.(157-159)gGc>gAc	p.G53D	LZTS1_ENST00000265801.6_Missense_Mutation_p.G53D|LZTS1_ENST00000522290.1_Missense_Mutation_p.G53D			Q9Y250	LZTS1_HUMAN	leucine zipper, putative tumor suppressor 1	53					cell cycle|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	cell junction|dendritic spine|Golgi apparatus|nucleolus|nucleoplasm|postsynaptic density|postsynaptic membrane	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(2)|skin(1)|urinary_tract(1)	29				Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207)		GCTGGACTTGCCGTGACCGGA	0.577													4	167					0	0	1	0	0	T	20112535	C	T	20112535	3	4	223	1	0	0	0	0	1	0	0	0	9184	739	26	2	1644	2	LZTS1	8	20112535	Missense_Mutation	SNP	C	TCGA-FG-A711-01A-21D-A33T-08	74117	20112535	126251487	27	26086											
RAB11FIP1	80223	broad.mit.edu	37	8	37732635	37732635	+	Silent	SNP	C	C	T	rs142192886	byFrequency	TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr8:37732635C>T	ENST00000330843.4	-	3	1032	c.1020G>A	c.(1018-1020)ccG>ccA	p.P340P	RAB11FIP1_ENST00000524118.1_Silent_p.P192P|RAB11FIP1_ENST00000522727.1_Silent_p.P192P|RAB11FIP1_ENST00000287263.4_Silent_p.P340P	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 (class I)	340					protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding			NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			GGGAGGAGGACGGGCTGCTAT	0.532													5	577					0	0	1	0	0	T	37732635	C	T	37732635	2	4	223	1	0	0	0	0	0	0	0	1	12945	523	19	1		1	RAB11FIP1	8	37732635	Silent	SNP	C	TCGA-FG-A711-01A-21D-A33T-08	17620100	37732635	108631387	28	26087											
RP1	6101	broad.mit.edu	37	8	55537675	55537675	+	Silent	SNP	A	A	G			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr8:55537675A>G	ENST00000220676.1	+	4	1381	c.1233A>G	c.(1231-1233)caA>caG	p.Q411Q		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	411					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TAAACATTCAAATGACAGATC	0.453													4	111					0	0	1	0	0	G	55537675	A	G	55537675	2	3	223	1	0	0	0	0	0	0	0	1	13584	11	1	3		3	RP1	8	55537675	Silent	SNP	A	TCGA-FG-A711-01A-21D-A33T-08	17805040	55537675	90826347	29	26088											
COL14A1	7373	broad.mit.edu	37	8	121354641	121354641	+	Missense_Mutation	SNP	T	T	A			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr8:121354641T>A	ENST00000297848.3	+	44	5114	c.4844T>A	c.(4843-4845)aTg>aAg	p.M1615K	COL14A1_ENST00000309791.4_Missense_Mutation_p.M1615K|COL14A1_ENST00000247781.3_Missense_Mutation_p.M1520K	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	1615					cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			TCTCAAGCCATGGTGAGATCA	0.488													43	80					0	0	1	0	0	A	121354641	T	A	121354641	3	1	223	1	0	0	0	0	1	0	0	0	3694	1464	51	4	5014	4	COL14A1	8	121354641	Missense_Mutation	SNP	T	TCGA-FG-A711-01A-21D-A33T-08	65816966	121354641	25009381	30	26089											
INSL4	3641	broad.mit.edu	37	9	5231539	5231539	+	Missense_Mutation	SNP	C	C	T	rs142741438	byFrequency	TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr9:5231539C>T	ENST00000239316.4	+	1	121	c.16C>T	c.(16-18)Cgg>Tgg	p.R6W		NM_002195.1	NP_002186.1	Q14641	INSL4_HUMAN	insulin-like 4 (placenta)	6					cell proliferation|cell-cell signaling|female pregnancy|multicellular organismal development|signal transduction	extracellular space|soluble fraction	hormone activity|insulin-like growth factor receptor binding			endometrium(2)|lung(2)|skin(1)|urinary_tract(1)	6	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0201)|Lung(218;0.14)		CAGCCTGTTCCGGTCCTATCT	0.542													14	19					0	0	1	0	0	T	5231539	C	T	5231539	3	4	223	1	0	0	0	0	1	0	0	0	7812	643	23	1	18	1	INSL4	9	5231539	Missense_Mutation	SNP	C	TCGA-FG-A711-01A-21D-A33T-08		5231539	135981892	31	26090											
C9orf47	286223	broad.mit.edu	37	9	91606803	91606803	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr9:91606803G>A	ENST00000375851.2	+	3	585	c.452G>A	c.(451-453)cGc>cAc	p.R151H	C9orf47_ENST00000334490.5_Missense_Mutation_p.R170H|S1PR3_ENST00000358157.2_Intron|C9orf47_ENST00000375850.3_Missense_Mutation_p.R203H	NM_001001938.3|NM_001142413.1	NP_001001938.1|NP_001135885.1	Q6ZRZ4	CI047_HUMAN	chromosome 9 open reading frame 47	170						extracellular region				endometrium(1)|large_intestine(1)|liver(1)|lung(1)	4						CTTTTCCACCGCACCCGGAGC	0.617													4	86					0	0	1	0	0	A	91606803	G	A	91606803	3	1	223	1	0	0	0	0	1	0	0	0	2503	1087	38	1	519	1	C9orf47	9	91606803	Missense_Mutation	SNP	G	TCGA-FG-A711-01A-21D-A33T-08	86375264	91606803	49606628	32	26091											
ANGPTL2	23452	broad.mit.edu	37	9	129854001	129854001	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr9:129854001C>T	ENST00000373425.3	-	4	1847	c.1230G>A	c.(1228-1230)tgG>tgA	p.W410*	RALGPS1_ENST00000424082.2_Intron|RALGPS1_ENST00000373434.1_Intron|RALGPS1_ENST00000394022.3_Intron|RALGPS1_ENST00000373436.1_Intron|ANGPTL2_ENST00000373417.1_Nonsense_Mutation_p.W108*|RALGPS1_ENST00000259351.5_Intron	NM_012098.2	NP_036230.1	Q9UKU9	ANGL2_HUMAN	angiopoietin-like 2	410	Fibrinogen C-terminal.				multicellular organismal development|signal transduction	extracellular space	receptor binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|urinary_tract(1)	18						TGCCGTTGTGCCATGTAAAGG	0.532													6	508					0	0	1	0	0	T	129854001	C	T	129854001	4	4	223	1	0	0	0	0	0	1	0	0	610	740	26	2	259	2	ANGPTL2	9	129854001	Nonsense_Mutation	SNP	C	TCGA-FG-A711-01A-21D-A33T-08	38247198	129854001	11359430	33	26092											
FAM129B	64855	broad.mit.edu	37	9	130270452	130270452	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr9:130270452G>A	ENST00000373312.3	-	12	1675	c.1462C>T	c.(1462-1464)Cgg>Tgg	p.R488W	FAM129B_ENST00000468379.1_Intron|FAM129B_ENST00000373314.3_Missense_Mutation_p.R475W	NM_022833.2	NP_073744.2	Q96TA1	NIBL1_HUMAN	family with sequence similarity 129, member B	488							protein binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						AACCTCTTCCGCACAGAGCTG	0.627													12	110					0	0	1	0	0	A	130270452	G	A	130270452	3	1	223	1	0	0	0	0	1	0	0	0	5468	1086	38	1	790	1	FAM129B	9	130270452	Missense_Mutation	SNP	G	TCGA-FG-A711-01A-21D-A33T-08	416451	130270452	10942979	34	26093											
ITIH2	3698	broad.mit.edu	37	10	7774441	7774441	+	Splice_Site	SNP	G	G	A			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr10:7774441G>A	ENST00000358415.4	+	14	1953		c.e14+1		ITIH2_ENST00000379587.4_Splice_Site	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN	inter-alpha-trypsin inhibitor heavy chain 2						hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						TAGCTGAACGGTAAGAAGAGA	0.433													26	52					0	0	1	0	0	A	7774441	G	A	7774441	5	1	223	1	0	0	0	0	0	0	1	0	7948	1275	44	2	1842	2	ITIH2	10	7774441	Splice_Site	SNP	G	TCGA-FG-A711-01A-21D-A33T-08		7774441	127760306	35	26094											
MTPAP	55149	broad.mit.edu	37	10	30653878	30653878	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr10:30653878G>A	ENST00000358107.4	-	2	303	c.304C>T	c.(304-306)Cac>Tac	p.H102Y	MTPAP_ENST00000488290.1_5'UTR			Q9NVV4	PAPD1_HUMAN	mitochondrial poly(A) polymerase	0					cell death|histone mRNA catabolic process|mRNA polyadenylation|transcription, DNA-dependent	mitochondrion	ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|protein homodimerization activity|RNA binding|UTP binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						ccacAGAGGTGCTGCAATGCC	0.652													12	20					0	0	1	0	0	A	30653878	G	A	30653878	3	1	223	1	0	0	0	0	1	0	0	0	10004	1334	46	2		2	MTPAP	10	30653878	Missense_Mutation	SNP	G	TCGA-FG-A711-01A-21D-A33T-08	22879437	30653878	104880869	36	26095											
GRID1	2894	broad.mit.edu	37	10	87898634	87898634	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr10:87898634G>A	ENST00000327946.7	-	4	753	c.668C>T	c.(667-669)aCg>aTg	p.T223M		NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	223						cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106					L-Glutamic Acid(DB00142)	GCGGCGAAGCGTGTCCCGGTA	0.587										Multiple Myeloma(13;0.14)			97	189					0	0	1	0	0	A	87898634	G	A	87898634	3	1	223	1	0	0	0	0	1	0	0	0	6812	1145	40	1	2413	1	GRID1	10	87898634	Missense_Mutation	SNP	G	TCGA-FG-A711-01A-21D-A33T-08	57244756	87898634	47636113	37	26096											
ANO3	63982	broad.mit.edu	37	11	26463524	26463524	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr11:26463524T>C	ENST00000256737.3	+	2	958	c.106T>C	c.(106-108)Tcc>Ccc	p.S36P	ANO3_ENST00000531646.1_Missense_Mutation_p.S36P|ANO3_ENST00000537978.1_Missense_Mutation_p.S20P|ANO3_ENST00000525139.1_Missense_Mutation_p.S20P	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	36						chloride channel complex	chloride channel activity			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						GTCTCGGAGATCCCTGCCTTG	0.438													117	153					0	0	1	0	0	C	26463524	T	C	26463524	3	2	223	1	0	0	0	0	1	0	0	0	692	1435	50	3	112	3	ANO3	11	26463524	Missense_Mutation	SNP	T	TCGA-FG-A711-01A-21D-A33T-08		26463524	108542992	38	26097											
OR5B12	390191	broad.mit.edu	37	11	58207289	58207289	+	Silent	SNP	G	G	C			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr11:58207289G>C	ENST00000302572.2	-	1	357	c.336C>G	c.(334-336)ctC>ctG	p.L112L		NM_001004733.2	NP_001004733.1	Q96R08	OR5BC_HUMAN	olfactory receptor, family 5, subfamily B, member 12	112					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(6)|liver(1)|lung(28)|ovary(1)|prostate(3)|skin(1)	40	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				TTGATGCCAGGAGGAAACTTT	0.443													5	177					0	0	1	0	0	C	58207289	G	C	58207289	2	2	223	1	0	0	0	0	0	0	0	1	11195	1161	41	5		5	OR5B12	11	58207289	Silent	SNP	G	TCGA-FG-A711-01A-21D-A33T-08	31743765	58207289	76799227	39	26098											
AHNAK	79026	broad.mit.edu	37	11	62289340	62289340	+	Silent	SNP	G	G	A			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr11:62289340G>A	ENST00000378024.4	-	5	12823	c.12549C>T	c.(12547-12549)gaC>gaT	p.D4183D	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	4183					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TTAAGTGCCAGTCTGGGCCTT	0.542													217	424					0	0	1	0	0	A	62289340	G	A	62289340	2	1	223	1	0	0	0	0	0	0	0	1	411	1020	36	2		2	AHNAK	11	62289340	Silent	SNP	G	TCGA-FG-A711-01A-21D-A33T-08	4082051	62289340	72717176	40	26099											
NUMA1	4926	broad.mit.edu	37	11	71724905	71724905	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr11:71724905C>T	ENST00000393695.3	-	15	3975	c.3644G>A	c.(3643-3645)cGg>cAg	p.R1215Q	NUMA1_ENST00000358965.6_Missense_Mutation_p.R1215Q|NUMA1_ENST00000351960.6_Intron	NM_006185.2	NP_006176.2	Q14980	NUMA1_HUMAN	nuclear mitotic apparatus protein 1	1215					G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						TTGCCGGCCCCGGGCCACCTG	0.612			T	RARA	APL								5	179					0	0	1	0	0	T	71724905	C	T	71724905	3	4	223	1	0	0	0	0	1	0	0	0	10798	652	23	1	2755	1	NUMA1	11	71724905	Missense_Mutation	SNP	C	TCGA-FG-A711-01A-21D-A33T-08	9435565	71724905	63281611	41	26100											
MAP6	4135	broad.mit.edu	37	11	75298555	75298555	+	Missense_Mutation	SNP	A	A	G			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr11:75298555A>G	ENST00000304771.3	-	4	2741	c.1991T>C	c.(1990-1992)aTg>aCg	p.M664T	CTD-2530H12.4_ENST00000527803.1_RNA|MAP6_ENST00000526740.1_Missense_Mutation_p.M335T	NM_033063.1	NP_149052.1	Q96JE9	MAP6_HUMAN	microtubule-associated protein 6	664	Pro-rich.					Golgi apparatus|microtubule|perinuclear region of cytoplasm	calmodulin binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	19	Ovarian(111;0.11)					CTCAGAGACCATGGAACCTTG	0.488													7	229					0	0	1	0	0	G	75298555	A	G	75298555	3	3	223	1	0	0	0	0	1	0	0	0	9314	217	8	3	454	3	MAP6	11	75298555	Missense_Mutation	SNP	A	TCGA-FG-A711-01A-21D-A33T-08	3573650	75298555	59707961	42	26101											
FOLH1B	219595	broad.mit.edu	37	11	89395322	89395322	+	RNA	SNP	C	C	T			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr11:89395322C>T	ENST00000532352.1	+	0	720							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B						proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						TTTCAGAATACGCTTATAGGC	0.343													4	89					0	0	1	0	0	T	89395322	C	T	89395322	1	4	223	0	1	0	0	0	0	0	0	0	6013	551	19	1		1	FOLH1B	11	89395322	RNA	SNP	C	TCGA-FG-A711-01A-21D-A33T-08	14096767	89395322	45611194	43	26102											
CAPRIN2	65981	broad.mit.edu	37	12	30906347	30906347	+	Silent	SNP	C	C	T	rs151080170	byFrequency	TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr12:30906347C>T	ENST00000251071.5	-	1	1101	c.351G>A	c.(349-351)gcG>gcA	p.A117A	CAPRIN2_ENST00000417045.1_Silent_p.A117A|CAPRIN2_ENST00000395805.2_Silent_p.A117A|CAPRIN2_ENST00000298892.5_Silent_p.A117A|CAPRIN2_ENST00000308433.5_5'UTR	NM_001002259.1|NM_032156.3	NP_001002259.1|NP_115532.3	Q6IMN6	CAPR2_HUMAN	caprin family member 2	117					negative regulation of cell growth|negative regulation of translation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of transcription from RNA polymerase II promoter	mitochondrion|receptor complex	receptor binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	48	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					AGGTCTCATACGCTTGGGAAG	0.468											OREG0021723	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	90	179					0	0	1	0	0	T	30906347	C	T	30906347	2	4	223	1	0	0	0	0	0	0	0	1	2654	523	19	1		1	CAPRIN2	12	30906347	Silent	SNP	C	TCGA-FG-A711-01A-21D-A33T-08		30906347	102945548	44	26103											
SOHLH2	54937	broad.mit.edu	37	13	36743177	36743177	+	Silent	SNP	C	C	T	rs148509448		TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr13:36743177C>T	ENST00000379881.3	-	11	1360	c.1272G>A	c.(1270-1272)gcG>gcA	p.A424A	CCDC169-SOHLH2_ENST00000511166.1_Silent_p.A501A|SOHLH2_ENST00000554962.1_Silent_p.A501A	NM_017826.2	NP_060296.2			spermatogenesis and oogenesis specific basic helix-loop-helix 2											autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;4.63e-08)|Epithelial(112;2.67e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00272)|BRCA - Breast invasive adenocarcinoma(63;0.00685)|GBM - Glioblastoma multiforme(144;0.0273)		GCTTTTAATACGCCCAAAACT	0.383													4	260					0	0	1	0	0	T	36743177	C	T	36743177	2	4	223	1	0	0	0	0	0	0	0	1	14978	523	19	1		1	SOHLH2	13	36743177	Silent	SNP	C	TCGA-FG-A711-01A-21D-A33T-08		36743177	78426701	45	26104											
TBC1D4	9882	broad.mit.edu	37	13	75861079	75861079	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr13:75861079C>T	ENST00000377636.3	-	21	4092	c.3746G>A	c.(3745-3747)cGg>cAg	p.R1249Q	TBC1D4_ENST00000377625.2_Missense_Mutation_p.R1186Q|TBC1D4_ENST00000431480.2_Missense_Mutation_p.R1241Q|TBC1D4_ENST00000425511.1_Missense_Mutation_p.R413Q	NM_014832.2	NP_055647.2	O60343	TBCD4_HUMAN	TBC1 domain family, member 4	1249						cytoplasm	Rab GTPase activator activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		TTCCAGGGTCCGGATTAAAGA	0.458													5	261					0	0	1	0	0	T	75861079	C	T	75861079	3	4	223	1	0	0	0	0	1	0	0	0	15682	652	23	1	154	1	TBC1D4	13	75861079	Missense_Mutation	SNP	C	TCGA-FG-A711-01A-21D-A33T-08	39117902	75861079	39308799	46	26105											
CDH3	1001	broad.mit.edu	37	16	68718504	68718504	+	Frame_Shift_Del	DEL	A	A	-			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr16:68718504delA	ENST00000264012.4	+	10	1745	c.1201delA	c.(1201-1203)aaafs	p.K401fs	CDH3_ENST00000581171.1_Frame_Shift_Del_p.K346fs|CDH3_ENST00000429102.2_Frame_Shift_Del_p.K401fs	NM_001793.4	NP_001784.2	P22223	CADH3_HUMAN	cadherin 3, type 1, P-cadherin (placental)	401	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion|response to stimulus|visual perception	integral to membrane	calcium ion binding	p.?(2)		NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(3)|skin(1)|urinary_tract(1)	25		Ovarian(137;0.0564)		OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384)		TTTTGAGGCCAAAAACCAGCA	0.522													8	699	---	---	---	---						-	68718504	A	-	68718504	7	5	223	1	0	1	0	1	0	0	0	0	3133	131	5	0	1239	0	CDH3	16	68718504	Frame_Shift_Del	DEL	A	TCGA-FG-A711-01A-21D-A33T-08		68718504	21636249	47	26106											
CYBA	1535	broad.mit.edu	37	16	88712527	88712527	+	Frame_Shift_Del	DEL	T	T	-			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr16:88712527delT	ENST00000569359.1	-	5	382	c.366delA	c.(364-366)ctafs	p.L123fs	CYBA_ENST00000261623.3_Frame_Shift_Del_p.L123fs|CYBA_ENST00000567174.1_Frame_Shift_Del_p.L123fs			P13498	CY24A_HUMAN	cytochrome b-245, alpha polypeptide	123					cytochrome complex assembly|electron transport chain|hydrogen peroxide biosynthetic process|inflammatory response|innate immune response|respiratory burst|smooth muscle hypertrophy|superoxide anion generation|transport	NADPH oxidase complex|stored secretory granule	electron carrier activity|heme binding|protein heterodimerization activity|SH3 domain binding			endometrium(1)|liver(1)	2				BRCA - Breast invasive adenocarcinoma(80;0.0478)		CACTCACCAGTAGGTAGATGC	0.701													2	4	---	---	---	---						-	88712527	T	-	88712527	7	5	223	1	0	1	0	1	0	0	0	0	4154	1625	57	0	229	0	CYBA	16	88712527	Frame_Shift_Del	DEL	T	TCGA-FG-A711-01A-21D-A33T-08	19994023	88712527	1642226	48	26107											
TRPV1	7442	broad.mit.edu	37	17	3470222	3470222	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr17:3470222G>A	ENST00000174621.6	-	15	2690	c.2401C>T	c.(2401-2403)Cga>Tga	p.R801*	TRPV1_ENST00000571088.1_Nonsense_Mutation_p.R803*|SHPK_ENST00000572705.1_Nonsense_Mutation_p.R803*|TRPV1_ENST00000576351.1_Nonsense_Mutation_p.R793*|TRPV1_ENST00000399759.3_Nonsense_Mutation_p.R803*|TRPV1_ENST00000399756.4_Nonsense_Mutation_p.R803*|TRPV1_ENST00000310522.5_Nonsense_Mutation_p.R743*|TRPV1_ENST00000425167.2_Nonsense_Mutation_p.R814*			Q8NER1	TRPV1_HUMAN	transient receptor potential cation channel, subfamily V, member 1	803	Interaction with calmodulin (By similarity).				cell surface receptor linked signaling pathway|chemosensory behavior|thermoception	cell junction|dendritic spine membrane|integral to plasma membrane|postsynaptic membrane	ATP binding|calcium channel activity|calmodulin binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	17				Lung(1;0.055)|COAD - Colon adenocarcinoma(5;0.0896)|LUAD - Lung adenocarcinoma(1115;0.131)	Alpha-Linolenic Acid(DB00132)|Aspartame(DB00168)|Icosapent(DB00159)	TGCCTATCTCGAGCACTTGCC	0.507													8	68					0	0	1	0	0	A	3470222	G	A	3470222	4	1	223	1	0	0	0	0	0	1	0	0	16656	1066	37	1	116	1	TRPV1	17	3470222	Nonsense_Mutation	SNP	G	TCGA-FG-A711-01A-21D-A33T-08		3470222	77724988	49	26108											
TP53	7157	broad.mit.edu	37	17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	rs121913343		TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr17:7577121G>A	ENST00000420246.2	-	8	949	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000269305.4_Missense_Mutation_p.R273C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	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).		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.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			41	11					0	0	1	0	0	A	7577121	G	A	7577121	3	1	223	1	0	0	0	0	1	0	0	0	16442	1087	38	1	469	1	TP53	17	7577121	Missense_Mutation	SNP	G	TCGA-FG-A711-01A-21D-A33T-08	4106899	7577121	73618089	50	26109											
DNAH2	146754	broad.mit.edu	37	17	7663221	7663221	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr17:7663221G>A	ENST00000572933.1	+	17	4210	c.2750G>A	c.(2749-2751)cGc>cAc	p.R917H	DNAH2_ENST00000389173.2_Missense_Mutation_p.R917H			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	917	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CTCACCAAGCGCAAGTTACAT	0.562													5	501					0	0	1	0	0	A	7663221	G	A	7663221	3	1	223	1	0	0	0	0	1	0	0	0	4630	1087	38	1	2812	1	DNAH2	17	7663221	Missense_Mutation	SNP	G	TCGA-FG-A711-01A-21D-A33T-08	86100	7663221	73531989	51	26110											
FAM134C	162427	broad.mit.edu	37	17	40761319	40761319	+	Silent	SNP	G	G	A			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr17:40761319G>A	ENST00000309428.5	-	1	83	c.24C>T	c.(22-24)ccC>ccT	p.P8P	FAM134C_ENST00000585894.1_Intron|FAM134C_ENST00000543197.1_5'UTR	NM_178126.3	NP_835227.1	Q86VR2	F134C_HUMAN	family with sequence similarity 134, member C	8						integral to membrane				endometrium(1)|large_intestine(3)|liver(1)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	11		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.134)		CTGGGGTCGTGGGAACCCCTT	0.687													37	55					0	0	1	0	0	A	40761319	G	A	40761319	2	1	223	1	0	0	0	0	0	0	0	1	5478	1335	47	2		2	FAM134C	17	40761319	Silent	SNP	G	TCGA-FG-A711-01A-21D-A33T-08	33098098	40761319	40433891	52	26111											
SERPINB5	5268	broad.mit.edu	37	18	61160386	61160386	+	Missense_Mutation	SNP	A	A	G			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr18:61160386A>G	ENST00000489441.1	+	5	720	c.625A>G	c.(625-627)Agg>Ggg	p.R209G	SERPINB5_ENST00000464346.1_Intron|SERPINB5_ENST00000382771.4_Intron			P36952	SPB5_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 5	0					cellular component movement|regulation of proteolysis	cytoplasm|extracellular space	protein binding|serine-type endopeptidase inhibitor activity			kidney(3)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)	12						GAAAAATGATAGGGACAGAGT	0.453													47	52					0	0	1	0	0	G	61160386	A	G	61160386	3	3	223	1	0	0	0	0	1	0	0	0	14158	435	15	3		3	SERPINB5	18	61160386	Missense_Mutation	SNP	A	TCGA-FG-A711-01A-21D-A33T-08		61160386	16916862	53	26112											
BCAM	4059	broad.mit.edu	37	19	45322335	45322335	+	Silent	SNP	G	G	A	rs79447398		TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr19:45322335G>A	ENST00000589651.1	+	11	1413	c.1359G>A	c.(1357-1359)gcG>gcA	p.A453A	BCAM_ENST00000270233.6_Silent_p.A453A			P50895	BCAM_HUMAN	basal cell adhesion molecule (Lutheran blood group)		Ig-like C2-type 3.				cell-matrix adhesion	integral to plasma membrane	laminin binding|laminin receptor activity	p.A453A(1)		central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22	Lung NSC(12;0.000789)|all_lung(12;0.00218)	Ovarian(192;0.0728)|all_neural(266;0.112)				TAAAGACAGCGGAAATAGAGC	0.582													4	192					0	0	1	0	0	A	45322335	G	A	45322335	2	1	223	1	0	0	0	0	0	0	0	1	1342	1103	39	1		1	BCAM	19	45322335	Silent	SNP	G	TCGA-FG-A711-01A-21D-A33T-08		45322335	13806648	54	26113											
A1BG	1	broad.mit.edu	37	19	58864428	58864428	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr19:58864428G>A	ENST00000263100.3	-	3	267	c.206C>T	c.(205-207)cCt>cTt	p.P69L	A1BG-AS1_ENST00000594950.1_RNA|A1BG-AS1_ENST00000600379.1_RNA|A1BG-AS1_ENST00000600686.1_RNA|A1BG-AS1_ENST00000599728.1_RNA|A1BG-AS1_ENST00000593374.1_RNA|A1BG-AS1_ENST00000593960.1_RNA|A1BG-AS1_ENST00000595302.1_RNA|CTD-2619J13.8_ENST00000599109.1_RNA	NM_130786.3	NP_570602.2	P04217	A1BG_HUMAN	alpha-1-B glycoprotein	69	Ig-like V-type 1.					extracellular region				NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|prostate(2)	15		all_cancers(17;3.04e-16)|all_epithelial(17;7.77e-12)|Lung NSC(17;3.25e-05)|Colorectal(82;5.46e-05)|all_lung(17;0.000129)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(17;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0269)		AAGGTGCACAGGCTCCTGGGC	0.617													47	76					0	0	1	0	0	A	58864428	G	A	58864428	3	1	223	1	0	0	0	0	1	0	0	0	1	1000	35	2	1305	2	A1BG	19	58864428	Missense_Mutation	SNP	G	TCGA-FG-A711-01A-21D-A33T-08	13542093	58864428	264555	55	26114											
PCSK2	5126	broad.mit.edu	37	20	17437095	17437095	+	Splice_Site	SNP	T	T	A			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr20:17437095T>A	ENST00000262545.2	+	10	1517		c.e10+2		PCSK2_ENST00000536609.1_Splice_Site|PCSK2_ENST00000377899.1_Splice_Site	NM_002594.3	NP_002585.2	P16519	NEC2_HUMAN	proprotein convertase subtilisin/kexin type 2						enkephalin processing|insulin processing|islet amyloid polypeptide processing	extracellular space|membrane|soluble fraction|transport vesicle	serine-type endopeptidase activity			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GGAGGCTAAGTATGTTCATAG	0.557													15	191					0	0	1	0	0	A	17437095	T	A	17437095	5	1	223	1	0	0	0	0	0	0	1	0	11648	1652	57	5	1242	5	PCSK2	20	17437095	Splice_Site	SNP	T	TCGA-FG-A711-01A-21D-A33T-08		17437095	45588425	56	26115											
CEP250	11190	broad.mit.edu	37	20	34084410	34084410	+	Missense_Mutation	SNP	A	A	G			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr20:34084410A>G	ENST00000397527.1	+	25	3892	c.3172A>G	c.(3172-3174)Act>Gct	p.T1058A	CEP250_ENST00000342580.4_Missense_Mutation_p.T1002A	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	1058	Gln/Glu-rich.				centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			TTTTAGCCTGACTCTGTCACT	0.433													64	91					0	0	1	0	0	G	34084410	A	G	34084410	3	3	223	1	0	0	0	0	1	0	0	0	3274	275	10	3	3258	3	CEP250	20	34084410	Missense_Mutation	SNP	A	TCGA-FG-A711-01A-21D-A33T-08	16647315	34084410	28941110	57	26116											
CASS4	57091	broad.mit.edu	37	20	55027795	55027795	+	Missense_Mutation	SNP	G	G	T			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr20:55027795G>T	ENST00000371336.3	+	5	1764	c.1563G>T	c.(1561-1563)caG>caT	p.Q521H	CASS4_ENST00000360314.3_Missense_Mutation_p.Q521H|CASS4_ENST00000434344.1_Intron	NM_001164114.1|NM_020356.3	NP_001157586.1|NP_065089.2	Q9NQ75	CASS4_HUMAN	Cas scaffolding protein family member 4	521					cell adhesion	cytoplasm|cytoskeleton|focal adhesion	two-component sensor activity			breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	54						ACCAGATGCAGACCATCTCCA	0.473													9	127					1.12685e-05	1.154e-05	1	1	0	T	55027795	G	T	55027795	3	4	223	1	0	0	0	0	1	0	0	0	2701	933	33	4	1581	4	CASS4	20	55027795	Missense_Mutation	SNP	G	TCGA-FG-A711-01A-21D-A33T-08	20943385	55027795	7997725	58	26117											
KRTAP21-2	337978	broad.mit.edu	37	21	32119422	32119422	+	Silent	SNP	G	G	A			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr21:32119422G>A	ENST00000333892.2	-	1	129	c.99C>T	c.(97-99)taC>taT	p.Y33Y		NM_181617.1	NP_853648.1	Q3LI59	KR212_HUMAN	keratin associated protein 21-2	33						intermediate filament				lung(4)|skin(2)|upper_aerodigestive_tract(1)	7						agccagagccgtatccacagc	0.537													76	22					0	0	1	0	0	A	32119422	G	A	32119422	2	1	223	1	0	0	0	0	0	0	0	1	8582	1140	40	1		1	KRTAP21-2	21	32119422	Silent	SNP	G	TCGA-FG-A711-01A-21D-A33T-08		32119422	16010473	59	26118											
ZC3H7B	23264	broad.mit.edu	37	22	41723244	41723244	+	Missense_Mutation	SNP	A	A	T			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr22:41723244A>T	ENST00000352645.4	+	5	577	c.320A>T	c.(319-321)aAg>aTg	p.K107M	ZC3H7B_ENST00000351589.4_Missense_Mutation_p.K107M	NM_017590.4	NP_060060.3	Q9UGR2	Z3H7B_HUMAN	zinc finger CCCH-type containing 7B	107					interspecies interaction between organisms	nucleus	nucleic acid binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						GACAGCGAGAAGGCGCTGGGC	0.632													49	106					0	0	1	0	0	T	41723244	A	T	41723244	3	4	223	1	0	0	0	0	1	0	0	0	17632	72	3	5	334	5	ZC3H7B	22	41723244	Missense_Mutation	SNP	A	TCGA-FG-A711-01A-21D-A33T-08		41723244	9581322	60	26119											
ARSE	415	broad.mit.edu	37	X	2854890	2854890	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chrX:2854890T>C	ENST00000545496.1	-	11	1670	c.1379A>G	c.(1378-1380)cAa>cGa	p.Q460R	ARSE_ENST00000540563.1_Missense_Mutation_p.Q390R|ARSE_ENST00000381134.3_Missense_Mutation_p.Q435R	NM_001282628.1	NP_001269557.1	P51690	ARSE_HUMAN	arylsulfatase E (chondrodysplasia punctata 1)	435					skeletal system development	Golgi stack	arylsulfatase activity|metal ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CAGAAGGTCTTGGCCGTCAAT	0.567													27	54					0	0	1	0	0	C	2854890	T	C	2854890	3	2	223	1	0	0	0	0	1	0	0	0	989	1812	63	3	473	3	ARSE	23	2854890	Missense_Mutation	SNP	T	TCGA-FG-A711-01A-21D-A33T-08		2854890	152415670	61	26120											
RRAGB	10325	broad.mit.edu	37	X	55782315	55782315	+	Silent	SNP	T	T	C			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chrX:55782315T>C	ENST00000374941.4	+	8	1366	c.777T>C	c.(775-777)caT>caC	p.H259H	RRAGB_ENST00000262850.7_Silent_p.H287H	NM_006064.4	NP_006055.3	Q5VZM2	RRAGB_HUMAN	Ras-related GTP binding B	287					cellular protein localization|cellular response to amino acid stimulus|positive regulation of TOR signaling cascade|signal transduction	Golgi apparatus|lysosome|nucleus	GTP binding|protein binding			breast(1)|endometrium(3)|large_intestine(5)|lung(3)|pancreas(1)|prostate(1)	14						GTGATGCCCATAGATTTGAGA	0.343													46	64					0	0	1	0	0	C	55782315	T	C	55782315	2	2	223	1	0	0	0	0	0	0	0	1	13725	1403	49	3		3	RRAGB	23	55782315	Silent	SNP	T	TCGA-FG-A711-01A-21D-A33T-08	52927425	55782315	99488245	62	26121											
ATRX	546	broad.mit.edu	37	X	76937737	76937740	+	Frame_Shift_Del	DEL	TTAA	TTAA	-			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chrX:76937737_76937740delTTAA	ENST00000373344.5	-	9	3222_3225	c.3008_3011delTTAA	c.(3007-3012)attaaafs	p.IK1003fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.IK965fs	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1003					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)	TTGTTCCATTTTAATTACTTTTTT	0.328			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						179	298	---	---	---	---						-	76937740	TTAA	-	76937737	7	5	223	1	0	1	0	1	0	0	0	0	1206	1841	64	0	4575	0	ATRX	23	76937737	Frame_Shift_Del	DEL	TTAA	TCGA-FG-A711-01A-21D-A33T-08	21155422	76937737	78332823	63	26122											
SLC25A5	292	broad.mit.edu	37	X	118602491	118602491	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chrX:118602491G>A	ENST00000317881.8	+	1	129	c.13G>A	c.(13-15)Gct>Act	p.A5T		NM_001152.4	NP_001143.2	P05141	ADT2_HUMAN	solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 5	5					chromosome segregation|energy reserve metabolic process|interspecies interaction between organisms|regulation of insulin secretion|viral reproduction	integral to plasma membrane|mitochondrial inner membrane|mitochondrial nucleoid|MMXD complex	adenine transmembrane transporter activity|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|stomach(2)	12					Clodronate(DB00720)	GACAGATGCCGCTGTGTCCTT	0.647													10	23					0	0	1	0	0	A	118602491	G	A	118602491	3	1	223	1	0	0	0	0	1	0	0	0	14567	1087	38	1	15	1	SLC25A5	23	118602491	Missense_Mutation	SNP	G	TCGA-FG-A711-01A-21D-A33T-08	41664754	118602491	36668069	64	26123											
NKRF	55922	broad.mit.edu	37	X	118725078	118725078	+	Missense_Mutation	SNP	A	A	T			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chrX:118725078A>T	ENST00000371527.1	-	2	962	c.310T>A	c.(310-312)Tct>Act	p.S104T	NKRF_ENST00000487600.1_5'UTR|NKRF_ENST00000304449.5_Missense_Mutation_p.S104T|NKRF_ENST00000542113.1_Missense_Mutation_p.S119T	NM_001173488.1	NP_001166959.1	O15226	NKRF_HUMAN	NFKB repressing factor	104	Active repression domain.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|double-stranded RNA binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	30						ATACTGAAAGAGTCTTGAGTA	0.393													7	230					0	0	1	0	0	T	118725078	A	T	118725078	3	4	223	1	0	0	0	0	1	0	0	0	10494	304	11	5	1766	5	NKRF	23	118725078	Missense_Mutation	SNP	A	TCGA-FG-A711-01A-21D-A33T-08	122587	118725078	36545482	65	26124											
SPANXN2	494119	broad.mit.edu	37	X	142803692	142803692	+	Frame_Shift_Del	DEL	T	T	-			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chrX:142803692delT	ENST00000370498.1	-	1	824	c.71delA	c.(70-72)aatfs	p.N24fs		NM_001009615.1	NP_001009615.1	Q5MJ10	SPXN2_HUMAN	SPANX family, member N2	24										NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					TACCTCATCATTTTTTTTGTT	0.443													7	492	---	---	---	---						-	142803692	T	-	142803692	7	5	223	1	0	1	0	1	0	0	0	0	15047	1493	52	0	479	0	SPANXN2	23	142803692	Frame_Shift_Del	DEL	T	TCGA-FG-A711-01A-21D-A33T-08	24078614	142803692	12466868	66	26125											
L1CAM	3897	broad.mit.edu	37	X	153128221	153128221	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chrX:153128221G>A	ENST00000370060.1	-	29	3860	c.3671C>T	c.(3670-3672)tCg>tTg	p.S1224L	L1CAM_ENST00000370055.1_Missense_Mutation_p.S1215L|L1CAM_ENST00000370057.3_Missense_Mutation_p.S1224L|L1CAM_ENST00000361699.4_Missense_Mutation_p.S1220L|L1CAM_ENST00000538883.1_Missense_Mutation_p.S1222L|L1CAM_ENST00000361981.3_Missense_Mutation_p.S1215L|L1CAM_ENST00000543994.1_Missense_Mutation_p.S1226L	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	1224			S -> L (in HSAS).		axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane				NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GCCAATGAACGAACCATCCTC	0.607													56	136					0	0	1	0	0	A	153128221	G	A	153128221	3	1	223	1	0	0	0	0	1	0	0	0	8627	1059	37	1	106	1	L1CAM	23	153128221	Missense_Mutation	SNP	G	TCGA-FG-A711-01A-21D-A33T-08	10324529	153128221	2142339	67	26126											
TAS1R1	80835	broad.mit.edu	37	1	6639509	6639509	+	Silent	SNP	G	G	T			TCGA-FG-A713-01A-11D-A32B-08	TCGA-FG-A713-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed89386f-0b6c-4b6b-bbac-c869aa72a025	bc2fa6a0-87a9-4052-a9ee-9a1d54413f32	g.chr1:6639509G>T	ENST00000333172.6	+	6	2584	c.2391G>T	c.(2389-2391)ctG>ctT	p.L797L	TAS1R1_ENST00000328191.4_3'UTR|TAS1R1_ENST00000351136.3_Silent_p.L543L	NM_138697.3	NP_619642.2	Q7RTX1	TS1R1_HUMAN	taste receptor, type 1, member 1	797					sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(13)|ovary(1)|skin(1)|urinary_tract(2)	29	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)		TGGCTGGGCTGAGCAGCCTGA	0.597													7	29					0.00307968	0.00307968	1	1	0	T	6639509	G	T	6639509	2	4	224	1	0	0	0	0	0	0	0	1	15619	1277	45	5		5	TAS1R1	1	6639509	Silent	SNP	G	TCGA-FG-A713-01A-11D-A32B-08		6639509	242611112	1	26127											
TNFRSF9	3604	broad.mit.edu	37	1	7998781	7998781	+	Splice_Site	SNP	C	C	A			TCGA-FG-A713-01A-11D-A32B-08	TCGA-FG-A713-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed89386f-0b6c-4b6b-bbac-c869aa72a025	bc2fa6a0-87a9-4052-a9ee-9a1d54413f32	g.chr1:7998781C>A	ENST00000377507.3	-	3	374	c.208G>T	c.(208-210)Ggt>Tgt	p.G70C		NM_001561.5	NP_001552.2	Q07011	TNR9_HUMAN	tumor necrosis factor receptor superfamily, member 9	70					induction of apoptosis|negative regulation of cell proliferation	integral to plasma membrane	binding|receptor activity	p.G70C(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	Ovarian(185;0.0634)|all_lung(157;0.151)	all_epithelial(116;9.63e-21)|all_lung(118;1.29e-06)|Lung NSC(185;7.5e-06)|Renal(390;0.000147)|Breast(348;0.000625)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.93e-71)|GBM - Glioblastoma multiforme(8;3.72e-37)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;7.71e-06)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000419)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00103)|READ - Rectum adenocarcinoma(331;0.0649)		GAACTCATACCTTTACACTGC	0.398													11	93					2.27111e-07	2.48238e-07	1	1	0	A	7998781	C	A	7998781	5	1	224	1	0	0	0	0	0	0	1	0	16360	695	24	4	583	4	TNFRSF9	1	7998781	Splice_Site	SNP	C	TCGA-FG-A713-01A-11D-A32B-08	1359272	7998781	241251840	2	26128											
PRAMEF4	400735	broad.mit.edu	37	1	12943140	12943140	+	Missense_Mutation	SNP	C	C	G			TCGA-FG-A713-01A-11D-A32B-08	TCGA-FG-A713-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed89386f-0b6c-4b6b-bbac-c869aa72a025	bc2fa6a0-87a9-4052-a9ee-9a1d54413f32	g.chr1:12943140C>G	ENST00000235349.5	-	2	146	c.76G>C	c.(76-78)Gcc>Ccc	p.A26P		NM_001009611.2	NP_001009611.1	O60810	PRAM4_HUMAN	PRAME family member 4	26										breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(3)|skin(1)	24	Ovarian(185;0.249)	Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GTGGACATGGCCAAAGCTTGG	0.577													21	125					0	0	1	0	0	G	12943140	C	G	12943140	3	3	224	1	0	0	0	0	1	0	0	0	12488	739	26	5	1372	5	PRAMEF4	1	12943140	Missense_Mutation	SNP	C	TCGA-FG-A713-01A-11D-A32B-08	4944359	12943140	236307481	3	26129											
ALMS1	7840	broad.mit.edu	37	2	73650092	73650092	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A713-01A-11D-A32B-08	TCGA-FG-A713-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed89386f-0b6c-4b6b-bbac-c869aa72a025	bc2fa6a0-87a9-4052-a9ee-9a1d54413f32	g.chr2:73650092G>A	ENST00000264448.6	+	4	865	c.754G>A	c.(754-756)Gca>Aca	p.A252T	ALMS1_ENST00000377715.1_Missense_Mutation_p.A252T|ALMS1_ENST00000409009.1_Missense_Mutation_p.A210T	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	252					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						ACTAAGTTTTGCACCTCTGAG	0.378													28	134					0	0	1	0	0	A	73650092	G	A	73650092	3	1	224	1	0	0	0	0	1	0	0	0	531	1319	46	2	768	2	ALMS1	2	73650092	Missense_Mutation	SNP	G	TCGA-FG-A713-01A-11D-A32B-08		73650092	169549281	4	26130											
NMS	129521	broad.mit.edu	37	2	101097609	101097609	+	Nonsense_Mutation	SNP	C	C	T	rs142655356		TCGA-FG-A713-01A-11D-A32B-08	TCGA-FG-A713-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed89386f-0b6c-4b6b-bbac-c869aa72a025	bc2fa6a0-87a9-4052-a9ee-9a1d54413f32	g.chr2:101097609C>T	ENST00000376865.1	+	8	401	c.394C>T	c.(394-396)Cga>Tga	p.R132*		NM_001011717.1	NP_001011717.1	Q5H8A3	NMS_HUMAN	neuromedin S	132					neuropeptide signaling pathway|regulation of smooth muscle contraction	extracellular region				breast(1)|large_intestine(4)|lung(7)|ovary(1)|stomach(1)	14						GACCTGGGGACGACCCTTTTT	0.423													4	164					0	0	1	0	0	T	101097609	C	T	101097609	4	4	224	1	0	0	0	0	0	1	0	0	10549	528	19	1	424	1	NMS	2	101097609	Nonsense_Mutation	SNP	C	TCGA-FG-A713-01A-11D-A32B-08	27447517	101097609	142101764	5	26131											
EPC2	26122	broad.mit.edu	37	2	149447887	149447887	+	Frame_Shift_Del	DEL	C	C	-			TCGA-FG-A713-01A-11D-A32B-08	TCGA-FG-A713-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed89386f-0b6c-4b6b-bbac-c869aa72a025	bc2fa6a0-87a9-4052-a9ee-9a1d54413f32	g.chr2:149447887delC	ENST00000258484.6	+	2	292	c.258delC	c.(256-258)tacfs	p.Y86fs	EPC2_ENST00000409654.1_Frame_Shift_Del_p.Y86fs	NM_015630.3	NP_056445.3	Q52LR7	EPC2_HUMAN	enhancer of polycomb homolog 2 (Drosophila)	86					chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.0516)		TCAACTATTACAATCGCTTGT	0.348													19	114	---	---	---	---						-	149447887	C	-	149447887	7	5	224	1	0	1	0	1	0	0	0	0	5189	489	17	0	264	0	EPC2	2	149447887	Frame_Shift_Del	DEL	C	TCGA-FG-A713-01A-11D-A32B-08	48350278	149447887	93751486	6	26132											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-FG-A713-01A-11D-A32B-08	TCGA-FG-A713-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed89386f-0b6c-4b6b-bbac-c869aa72a025	bc2fa6a0-87a9-4052-a9ee-9a1d54413f32	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								9	39					0	0	1	0	0	T	209113112	C	T	209113112	3	4	224	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-FG-A713-01A-11D-A32B-08	59665225	209113112	34086261	7	26133											
FANCD2	2177	broad.mit.edu	37	3	10128939	10128939	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A713-01A-11D-A32B-08	TCGA-FG-A713-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed89386f-0b6c-4b6b-bbac-c869aa72a025	bc2fa6a0-87a9-4052-a9ee-9a1d54413f32	g.chr3:10128939G>A	ENST00000287647.3	+	34	3550	c.3457G>A	c.(3457-3459)Gaa>Aaa	p.E1153K	FANCD2_ENST00000383806.1_Missense_Mutation_p.E1153K|FANCD2_ENST00000419585.1_Missense_Mutation_p.E1153K|FANCD2OS_ENST00000524279.1_Intron|FANCD2OS_ENST00000436517.1_Intron|FANCD2_ENST00000383807.1_Missense_Mutation_p.E1153K	NM_033084.3	NP_149075.2	Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	1153					DNA repair|response to gamma radiation	nucleoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		TCAGAACAAAGAAAAAATTGG	0.348			"D, Mis, N, F"			"AML, leukemia"		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				6	62					0	0	1	0	0	A	10128939	G	A	10128939	3	1	224	1	0	0	0	0	1	0	0	0	5698	943	33	2	3587	2	FANCD2	3	10128939	Missense_Mutation	SNP	G	TCGA-FG-A713-01A-11D-A32B-08		10128939	187893491	8	26134											
GPR128	84873	broad.mit.edu	37	3	100378648	100378648	+	Missense_Mutation	SNP	C	C	G	rs144717099		TCGA-FG-A713-01A-11D-A32B-08	TCGA-FG-A713-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed89386f-0b6c-4b6b-bbac-c869aa72a025	bc2fa6a0-87a9-4052-a9ee-9a1d54413f32	g.chr3:100378648C>G	ENST00000273352.3	+	14	2208	c.1940C>G	c.(1939-1941)tCg>tGg	p.S647W	GPR128_ENST00000475887.1_Missense_Mutation_p.S352W|GPR128_ENST00000481506.1_3'UTR	NM_032787.2	NP_116176.2	Q96K78	GP128_HUMAN	G protein-coupled receptor 128	647					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						ATTACAATCTCGATCAAAGTG	0.438													8	60					0	0	1	0	0	G	100378648	C	G	100378648	3	3	224	1	0	0	0	0	1	0	0	0	6681	893	31	5	1994	5	GPR128	3	100378648	Missense_Mutation	SNP	C	TCGA-FG-A713-01A-11D-A32B-08	90249709	100378648	97643782	9	26135											
PLXND1	23129	broad.mit.edu	37	3	129305068	129305068	+	Silent	SNP	C	C	G			TCGA-FG-A713-01A-11D-A32B-08	TCGA-FG-A713-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed89386f-0b6c-4b6b-bbac-c869aa72a025	bc2fa6a0-87a9-4052-a9ee-9a1d54413f32	g.chr3:129305068C>G	ENST00000393239.1	-	4	1846	c.1668G>C	c.(1666-1668)ggG>ggC	p.G556G	PLXND1_ENST00000324093.4_Silent_p.G556G			Q9Y4D7	PLXD1_HUMAN	plexin D1	556					axon guidance	integral to membrane|intracellular|plasma membrane			PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						CCACGCAGTCCCCACAGGTGG	0.692													3	8					0	0	1	0	0	G	129305068	C	G	129305068	2	3	224	1	0	0	0	0	0	0	0	1	12175	610	22	5		5	PLXND1	3	129305068	Silent	SNP	C	TCGA-FG-A713-01A-11D-A32B-08	28926420	129305068	68717362	10	26136											
PCDH7	5099	broad.mit.edu	37	4	30724278	30724278	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A713-01A-11D-A32B-08	TCGA-FG-A713-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed89386f-0b6c-4b6b-bbac-c869aa72a025	bc2fa6a0-87a9-4052-a9ee-9a1d54413f32	g.chr4:30724278G>A	ENST00000361762.2	+	1	2242	c.1234G>A	c.(1234-1236)Gtg>Atg	p.V412M	PCDH7_ENST00000543491.1_Missense_Mutation_p.V412M	NM_002589.2	NP_002580.2	O60245	PCDH7_HUMAN	protocadherin 7	412	Cadherin 3.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						GAACGACAACGTGCCGTCCAT	0.632													4	37					0	0	1	0	0	A	30724278	G	A	30724278	3	1	224	1	0	0	0	0	1	0	0	0	11563	1145	40	1	1236	1	PCDH7	4	30724278	Missense_Mutation	SNP	G	TCGA-FG-A713-01A-11D-A32B-08		30724278	160429998	11	26137											
FRAS1	80144	broad.mit.edu	37	4	79207664	79207664	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A713-01A-11D-A32B-08	TCGA-FG-A713-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed89386f-0b6c-4b6b-bbac-c869aa72a025	bc2fa6a0-87a9-4052-a9ee-9a1d54413f32	g.chr4:79207664G>A	ENST00000264895.6	+	14	1945	c.1505G>A	c.(1504-1506)gGc>gAc	p.G502D	FRAS1_ENST00000325942.6_Missense_Mutation_p.G502D|FRAS1_ENST00000264899.6_Missense_Mutation_p.G502D	NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	502					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						TGTGGGGACGGCTTCTACCAA	0.622													3	50					0	0	1	0	0	A	79207664	G	A	79207664	3	1	224	1	0	0	0	0	1	0	0	0	6076	1203	42	2	1559	2	FRAS1	4	79207664	Missense_Mutation	SNP	G	TCGA-FG-A713-01A-11D-A32B-08	48483386	79207664	111946612	12	26138											
GALNT10	55568	broad.mit.edu	37	5	153755873	153755873	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-A713-01A-11D-A32B-08	TCGA-FG-A713-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed89386f-0b6c-4b6b-bbac-c869aa72a025	bc2fa6a0-87a9-4052-a9ee-9a1d54413f32	g.chr5:153755873T>C	ENST00000297107.6	+	5	742	c.605T>C	c.(604-606)cTt>cCt	p.L202P	GALNT10_ENST00000377661.2_Intron|GALNT10_ENST00000425427.2_Missense_Mutation_p.L202P|SAP30L-AS1_ENST00000519727.1_RNA	NM_198321.3	NP_938080.1	Q86SR1	GLT10_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 10 (GalNAc-T10)	202	Catalytic subdomain A.					Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	32	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21)	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)			TACATGGCCCTTTTCCCCAGT	0.502													3	110					0	0	1	0	0	C	153755873	T	C	153755873	3	2	224	1	0	0	0	0	1	0	0	0	6248	1609	56	3	623	3	GALNT10	5	153755873	Missense_Mutation	SNP	T	TCGA-FG-A713-01A-11D-A32B-08		153755873	27159387	13	26139											
RADIL	55698	broad.mit.edu	37	7	4917591	4917591	+	Silent	SNP	C	C	T			TCGA-FG-A713-01A-11D-A32B-08	TCGA-FG-A713-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed89386f-0b6c-4b6b-bbac-c869aa72a025	bc2fa6a0-87a9-4052-a9ee-9a1d54413f32	g.chr7:4917591C>T	ENST00000399583.3	-	2	367	c.180G>A	c.(178-180)tcG>tcA	p.S60S	RADIL_ENST00000536091.1_Silent_p.S60S	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN	Ras association and DIL domains	60					cell adhesion|multicellular organismal development|signal transduction		protein binding	p.S60S(1)		NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		CACCAGGGGCCGACAGCTGGG	0.657													3	22					0	0	1	0	0	T	4917591	C	T	4917591	2	4	224	1	0	0	0	0	0	0	0	1	13049	639	23	1		1	RADIL	7	4917591	Silent	SNP	C	TCGA-FG-A713-01A-11D-A32B-08		4917591	154221072	14	26140											
CNOT4	4850	broad.mit.edu	37	7	135078909	135078909	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-A713-01A-11D-A32B-08	TCGA-FG-A713-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed89386f-0b6c-4b6b-bbac-c869aa72a025	bc2fa6a0-87a9-4052-a9ee-9a1d54413f32	g.chr7:135078909T>C	ENST00000428680.2	-	10	1658	c.1379A>G	c.(1378-1380)aAt>aGt	p.N460S	CNOT4_ENST00000423368.2_Missense_Mutation_p.N463S|CNOT4_ENST00000361528.4_Missense_Mutation_p.N460S|CNOT4_ENST00000356162.4_Intron|CNOT4_ENST00000541284.1_Missense_Mutation_p.N463S|CNOT4_ENST00000414802.1_Intron|CNOT4_ENST00000315544.5_Missense_Mutation_p.N463S|CNOT4_ENST00000451834.1_Missense_Mutation_p.N460S	NM_001008225.2	NP_001008226.1	O95628	CNOT4_HUMAN	CCR4-NOT transcription complex, subunit 4	463					nuclear-transcribed mRNA poly(A) tail shortening|protein autoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	nucleotide binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	22						ATTGAGAGAATTGGCATTTGT	0.502													18	62					0	0	1	0	0	C	135078909	T	C	135078909	3	2	224	1	0	0	0	0	1	0	0	0	3644	1493	52	3	653	3	CNOT4	7	135078909	Missense_Mutation	SNP	T	TCGA-FG-A713-01A-11D-A32B-08	130161318	135078909	24059754	15	26141											
PRSS55	203074	broad.mit.edu	37	8	10387145	10387145	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A713-01A-11D-A32B-08	TCGA-FG-A713-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed89386f-0b6c-4b6b-bbac-c869aa72a025	bc2fa6a0-87a9-4052-a9ee-9a1d54413f32	g.chr8:10387145G>A	ENST00000328655.3	+	2	323	c.283G>A	c.(283-285)Ggc>Agc	p.G95S	PRSS51_ENST00000523024.1_RNA|PRSS55_ENST00000522210.1_Missense_Mutation_p.G95S	NM_198464.3	NP_940866.2	Q6UWB4	PRS55_HUMAN	protease, serine, 55	95	Peptidase S1.				proteolysis	integral to membrane	serine-type endopeptidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)	31						TTTCTGTGGCGGCTCCATCCT	0.547													30	268					0	0	1	0	0	A	10387145	G	A	10387145	3	1	224	1	0	0	0	0	1	0	0	0	12683	1116	39	1	289	1	PRSS55	8	10387145	Missense_Mutation	SNP	G	TCGA-FG-A713-01A-11D-A32B-08		10387145	135976877	16	26142											
ANK1	286	broad.mit.edu	37	8	41521247	41521247	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-A713-01A-11D-A32B-08	TCGA-FG-A713-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed89386f-0b6c-4b6b-bbac-c869aa72a025	bc2fa6a0-87a9-4052-a9ee-9a1d54413f32	g.chr8:41521247T>C	ENST00000396942.1	-	40	5491	c.5408A>G	c.(5407-5409)cAg>cGg	p.Q1803R	ANK1_ENST00000265709.8_Missense_Mutation_p.Q1844R|ANK1_ENST00000522231.1_Missense_Mutation_p.Q78R|ANK1_ENST00000347528.4_Missense_Mutation_p.Q1803R|RP11-930P14.1_ENST00000522388.1_RNA|ANK1_ENST00000352337.4_Missense_Mutation_p.Q1803R|ANK1_ENST00000289734.7_Missense_Mutation_p.Q1803R|ANK1_ENST00000314214.8_Missense_Mutation_p.Q78R|RP11-930P14.1_ENST00000520418.1_RNA|ANK1_ENST00000379758.2_Missense_Mutation_p.Q1803R|ANK1_ENST00000522543.1_Missense_Mutation_p.Q78R|RP11-930P14.1_ENST00000585088.1_RNA|ANK1_ENST00000396945.1_Intron|ANK1_ENST00000457297.1_Missense_Mutation_p.Q78R			P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	1803	55 kDa regulatory domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			TGGAATATTCTGAAACTCATT	0.512													4	55					0	0	1	0	0	C	41521247	T	C	41521247	3	2	224	1	0	0	0	0	1	0	0	0	616	1580	55	3	352	3	ANK1	8	41521247	Missense_Mutation	SNP	T	TCGA-FG-A713-01A-11D-A32B-08	31134102	41521247	104842775	17	26143											
LTBP3	4054	broad.mit.edu	37	11	65320906	65320906	+	Silent	SNP	G	G	A			TCGA-FG-A713-01A-11D-A32B-08	TCGA-FG-A713-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed89386f-0b6c-4b6b-bbac-c869aa72a025	bc2fa6a0-87a9-4052-a9ee-9a1d54413f32	g.chr11:65320906G>A	ENST00000301873.5	-	4	1228	c.960C>T	c.(958-960)ccC>ccT	p.P320P	LTBP3_ENST00000322147.4_Silent_p.P320P|LTBP3_ENST00000536982.1_Intron	NM_001130144.2	NP_001123616.1	Q9NS15	LTBP3_HUMAN	latent transforming growth factor beta binding protein 3	320	TB 1.					extracellular region	calcium ion binding|growth factor binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(3)	23						ACTGCAGCTGGGGACACTTGT	0.667													6	23					0	0	1	0	0	A	65320906	G	A	65320906	2	1	224	1	0	0	0	0	0	0	0	1	9120	1219	43	2		2	LTBP3	11	65320906	Silent	SNP	G	TCGA-FG-A713-01A-11D-A32B-08		65320906	69685610	18	26144											
RBM7	10179	broad.mit.edu	37	11	114278301	114278301	+	Missense_Mutation	SNP	A	A	C			TCGA-FG-A713-01A-11D-A32B-08	TCGA-FG-A713-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed89386f-0b6c-4b6b-bbac-c869aa72a025	bc2fa6a0-87a9-4052-a9ee-9a1d54413f32	g.chr11:114278301A>C	ENST00000540163.1	+	5	1215	c.573A>C	c.(571-573)caA>caC	p.Q191H	RBM7_ENST00000544582.1_Intron|RP11-212D19.4_ENST00000544347.1_Intron|RBM7_ENST00000541475.1_3'UTR|RBM7_ENST00000375490.5_Missense_Mutation_p.Q192H|RBM7_ENST00000545678.1_Missense_Mutation_p.Q71H			Q9Y580	RBM7_HUMAN	RNA binding motif protein 7	191					meiosis		nucleotide binding|protein binding|RNA binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17		all_cancers(61;5.06e-12)|all_epithelial(67;5.3e-06)|all_hematologic(158;7.68e-05)|Acute lymphoblastic leukemia(157;0.000966)|Melanoma(852;0.00153)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Breast(348;0.0818)|Prostate(24;0.104)		BRCA - Breast invasive adenocarcinoma(274;2.56e-06)|Epithelial(105;4.17e-05)|all cancers(92;0.000348)		AGTGGCGCCAAGGTACACCAT	0.438													17	109					0	0	1	0	0	C	114278301	A	C	114278301	3	2	224	1	0	0	0	0	1	0	0	0	13197	69	3	5	591	5	RBM7	11	114278301	Missense_Mutation	SNP	A	TCGA-FG-A713-01A-11D-A32B-08	48957395	114278301	20728215	19	26145											
FEZ1	9638	broad.mit.edu	37	11	125359621	125359621	+	Missense_Mutation	SNP	G	G	C			TCGA-FG-A713-01A-11D-A32B-08	TCGA-FG-A713-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed89386f-0b6c-4b6b-bbac-c869aa72a025	bc2fa6a0-87a9-4052-a9ee-9a1d54413f32	g.chr11:125359621G>C	ENST00000278919.3	-	2	287	c.53C>G	c.(52-54)tCc>tGc	p.S18C	FEZ1_ENST00000524435.1_Missense_Mutation_p.S18C|FEZ1_ENST00000366139.3_Missense_Mutation_p.S18C	NM_005103.4	NP_005094.1	Q99689	FEZ1_HUMAN	fasciculation and elongation protein zeta 1 (zygin I)	18					axon guidance|cell adhesion|transport	microtubule|plasma membrane				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	24	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0934)		CTCCGAGCAGGAGGGTCGAAG	0.537													14	53					0	0	1	0	0	C	125359621	G	C	125359621	3	2	224	1	0	0	0	0	1	0	0	0	5856	1174	41	5	1165	5	FEZ1	11	125359621	Missense_Mutation	SNP	G	TCGA-FG-A713-01A-11D-A32B-08	11081320	125359621	9646895	20	26146											
SLC6A12	6539	broad.mit.edu	37	12	307979	307979	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A713-01A-11D-A32B-08	TCGA-FG-A713-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed89386f-0b6c-4b6b-bbac-c869aa72a025	bc2fa6a0-87a9-4052-a9ee-9a1d54413f32	g.chr12:307979C>T	ENST00000428720.1	-	8	1573	c.830G>A	c.(829-831)cGc>cAc	p.R277H	SLC6A12_ENST00000536824.1_Missense_Mutation_p.R277H|SLC6A12_ENST00000359674.4_Missense_Mutation_p.R277H|SLC6A12_ENST00000424061.2_Missense_Mutation_p.R277H|SLC6A12_ENST00000397296.2_Missense_Mutation_p.R277H|SLC6A12_ENST00000538272.1_5'UTR	NM_001122848.2	NP_001116320.1	P48065	S6A12_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 12	277					cellular nitrogen compound metabolic process|neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0172)|all_epithelial(11;0.0283)|all_lung(10;0.0392)|Lung NSC(10;0.0567)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00227)			GTCCTTGAGGCGGAACAAATC	0.517													14	72					0	0	1	0	0	T	307979	C	T	307979	3	4	224	1	0	0	0	0	1	0	0	0	14730	768	27	1	1050	1	SLC6A12	12	307979	Missense_Mutation	SNP	C	TCGA-FG-A713-01A-11D-A32B-08		307979	133543916	21	26147											
CCNT1	904	broad.mit.edu	37	12	49087746	49087746	+	Silent	SNP	T	T	C			TCGA-FG-A713-01A-11D-A32B-08	TCGA-FG-A713-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed89386f-0b6c-4b6b-bbac-c869aa72a025	bc2fa6a0-87a9-4052-a9ee-9a1d54413f32	g.chr12:49087746T>C	ENST00000261900.3	-	9	1473	c.1251A>G	c.(1249-1251)caA>caG	p.Q417Q		NM_001240.3	NP_001231.2	O60563	CCNT1_HUMAN	cyclin T1	417					cell cycle|cell division|interspecies interaction between organisms|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	DNA binding|protein kinase binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|skin(2)	27						CATATGCATATTGTGACTTCA	0.468													39	121					0	0	1	0	0	C	49087746	T	C	49087746	2	2	224	1	0	0	0	0	0	0	0	1	2956	1490	52	3		3	CCNT1	12	49087746	Silent	SNP	T	TCGA-FG-A713-01A-11D-A32B-08	48779767	49087746	84764149	22	26148											
TUBA1A	7846	broad.mit.edu	37	12	49580473	49580476	+	Frame_Shift_Del	DEL	GAAG	GAAG	-			TCGA-FG-A713-01A-11D-A32B-08	TCGA-FG-A713-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed89386f-0b6c-4b6b-bbac-c869aa72a025	bc2fa6a0-87a9-4052-a9ee-9a1d54413f32	g.chr12:49580473_49580476delGAAG	ENST00000301071.7	-	2	488_491	c.144_147delCTTC	c.(142-147)tccttcfs	p.SF48fs	TUBA1A_ENST00000295766.5_Frame_Shift_Del_p.SF48fs|TUBA1A_ENST00000550767.1_Frame_Shift_Del_p.SF13fs|TUBA1A_ENST00000546918.1_Frame_Shift_Del_p.SF48fs	NM_001270400.1|NM_006009.3	NP_001257329.1|NP_006000.2	Q71U36	TBA1A_HUMAN	tubulin, alpha 1a	48					'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|structural molecule activity			stomach(1)|upper_aerodigestive_tract(1)	2						AGAAGGTGTTGAAGGAATCATCTC	0.559													21	117	---	---	---	---						-	49580476	GAAG	-	49580473	7	5	224	1	0	1	0	1	0	0	0	0	16805	1281	45	0	1220	0	TUBA1A	12	49580473	Frame_Shift_Del	DEL	GAAG	TCGA-FG-A713-01A-11D-A32B-08	492727	49580473	84271422	23	26149											
TAC3	6866	broad.mit.edu	37	12	57409569	57409569	+	Silent	SNP	G	G	A			TCGA-FG-A713-01A-11D-A32B-08	TCGA-FG-A713-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed89386f-0b6c-4b6b-bbac-c869aa72a025	bc2fa6a0-87a9-4052-a9ee-9a1d54413f32	g.chr12:57409569G>A	ENST00000458521.2	-	2	172	c.13C>T	c.(13-15)Ctg>Ttg	p.L5L	TAC3_ENST00000415231.1_Silent_p.L5L|TAC3_ENST00000441881.1_Silent_p.L5L	NM_013251.3	NP_037383.1	Q9UHF0	TKNK_HUMAN	tachykinin 3	5					female pregnancy|neuropeptide signaling pathway|tachykinin receptor signaling pathway	extracellular space|soluble fraction	receptor binding			cervix(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	7						GTGAATAGCAGCATGATCCTC	0.547													5	36					0	0	1	0	0	A	57409569	G	A	57409569	2	1	224	1	0	0	0	0	0	0	0	1	15556	962	34	2		2	TAC3	12	57409569	Silent	SNP	G	TCGA-FG-A713-01A-11D-A32B-08	7829096	57409569	76442326	24	26150											
LRRIQ1	84125	broad.mit.edu	37	12	85459188	85459188	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A713-01A-11D-A32B-08	TCGA-FG-A713-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed89386f-0b6c-4b6b-bbac-c869aa72a025	bc2fa6a0-87a9-4052-a9ee-9a1d54413f32	g.chr12:85459188C>T	ENST00000393217.2	+	9	2601	c.2540C>T	c.(2539-2541)gCa>gTa	p.A847V		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	847										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		TACATTGATGCACAGGTATGC	0.333													7	53					0	0	1	0	0	T	85459188	C	T	85459188	3	4	224	1	0	0	0	0	1	0	0	0	9074	710	25	2	2570	2	LRRIQ1	12	85459188	Missense_Mutation	SNP	C	TCGA-FG-A713-01A-11D-A32B-08	28049619	85459188	48392707	25	26151											
ACACB	32	broad.mit.edu	37	12	109703224	109703224	+	Missense_Mutation	SNP	G	G	T			TCGA-FG-A713-01A-11D-A32B-08	TCGA-FG-A713-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed89386f-0b6c-4b6b-bbac-c869aa72a025	bc2fa6a0-87a9-4052-a9ee-9a1d54413f32	g.chr12:109703224G>T	ENST00000338432.7	+	52	7263	c.7144G>T	c.(7144-7146)Gtg>Ttg	p.V2382L	ACACB_ENST00000377854.5_Missense_Mutation_p.V2312L|ACACB_ENST00000377848.3_Missense_Mutation_p.V2382L|ACACB_ENST00000543201.1_3'UTR			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	2382					acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	CCAGGTGGTTGTGCAGTGGCT	0.627													6	28					0.000274275	0.000280238	1	1	0	T	109703224	G	T	109703224	3	4	224	1	0	0	0	0	1	0	0	0	107	1377	48	5	7346	5	ACACB	12	109703224	Missense_Mutation	SNP	G	TCGA-FG-A713-01A-11D-A32B-08	24244036	109703224	24148671	26	26152											
DTX1	1840	broad.mit.edu	37	12	113533219	113533219	+	Splice_Site	SNP	G	G	T			TCGA-FG-A713-01A-11D-A32B-08	TCGA-FG-A713-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed89386f-0b6c-4b6b-bbac-c869aa72a025	bc2fa6a0-87a9-4052-a9ee-9a1d54413f32	g.chr12:113533219G>T	ENST00000257600.3	+	8	2141	c.1638G>T	c.(1636-1638)aaG>aaT	p.K546N	DTX1_ENST00000547974.1_3'UTR	NM_004416.2	NP_004407.2	Q86Y01	DTX1_HUMAN	deltex homolog 1 (Drosophila)	546					negative regulation of neuron differentiation|Notch signaling pathway|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter	cytoplasm|nucleus	Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	32						AAGGCCGGAAGGTGGGTGCCC	0.632													6	50					0.000157383	0.000164378	1	1	0	T	113533219	G	T	113533219	5	4	224	1	0	0	0	0	0	0	1	0	4819	1014	35	4	1668	4	DTX1	12	113533219	Splice_Site	SNP	G	TCGA-FG-A713-01A-11D-A32B-08	3829995	113533219	20318676	27	26153											
EIF2B1	1967	broad.mit.edu	37	12	124111476	124111476	+	Silent	SNP	T	T	C			TCGA-FG-A713-01A-11D-A32B-08	TCGA-FG-A713-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed89386f-0b6c-4b6b-bbac-c869aa72a025	bc2fa6a0-87a9-4052-a9ee-9a1d54413f32	g.chr12:124111476T>C	ENST00000537073.1	-	5	805	c.597A>G	c.(595-597)gcA>gcG	p.A199A	EIF2B1_ENST00000539951.1_Intron|EIF2B1_ENST00000424014.2_Intron			Q14232	EI2BA_HUMAN	eukaryotic translation initiation factor 2B, subunit 1 alpha, 26kDa	0					cellular response to stimulus|oligodendrocyte development|regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus	cytosol|eukaryotic translation initiation factor 2B complex|membrane fraction|plasma membrane	protein binding|translation initiation factor activity			breast(1)|kidney(3)|large_intestine(2)|lung(3)|urinary_tract(1)	10	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.67e-05)|Epithelial(86;0.000353)|all cancers(50;0.00489)		TGAAAGGCAGTGCTGACTGCT	0.453													3	2					0	0	1	0	0	C	124111476	T	C	124111476	2	2	224	1	0	0	0	0	0	0	0	1	5026	1711	59	3		3	EIF2B1	12	124111476	Silent	SNP	T	TCGA-FG-A713-01A-11D-A32B-08	10578257	124111476	9740419	28	26154											
LECT1	11061	broad.mit.edu	37	13	53298165	53298165	+	Silent	SNP	G	G	A			TCGA-FG-A713-01A-11D-A32B-08	TCGA-FG-A713-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed89386f-0b6c-4b6b-bbac-c869aa72a025	bc2fa6a0-87a9-4052-a9ee-9a1d54413f32	g.chr13:53298165G>A	ENST00000448904.2	-	4	545	c.435C>T	c.(433-435)ggC>ggT	p.G145G	LECT1_ENST00000377962.3_Silent_p.G145G	NM_001011705.1|NM_007015.2	NP_001011705.1|NP_008946.1	O75829	LECT1_HUMAN	leukocyte cell derived chemotaxin 1	145	BRICHOS.				cartilage development|proteoglycan metabolic process	endomembrane system|extracellular region|integral to membrane				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|urinary_tract(1)	15		Lung NSC(96;0.00212)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.38e-08)		TGGTCACGGCGCCCACCTCAG	0.483													10	13					0	0	1	0	0	A	53298165	G	A	53298165	2	1	224	1	0	0	0	0	0	0	0	1	8751	1074	38	1		1	LECT1	13	53298165	Silent	SNP	G	TCGA-FG-A713-01A-11D-A32B-08		53298165	61871713	29	26155											
HECTD1	25831	broad.mit.edu	37	14	31618142	31618142	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-A713-01A-11D-A32B-08	TCGA-FG-A713-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed89386f-0b6c-4b6b-bbac-c869aa72a025	bc2fa6a0-87a9-4052-a9ee-9a1d54413f32	g.chr14:31618142T>C	ENST00000399332.1	-	14	2868	c.2380A>G	c.(2380-2382)Aga>Gga	p.R794G	HECTD1_ENST00000553700.1_Missense_Mutation_p.R794G	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	794					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		TTGGTTCCTCTATTAGATTCA	0.308													8	54					0	0	1	0	0	C	31618142	T	C	31618142	3	2	224	1	0	0	0	0	1	0	0	0	7080	1530	53	3	5572	3	HECTD1	14	31618142	Missense_Mutation	SNP	T	TCGA-FG-A713-01A-11D-A32B-08		31618142	75731398	30	26156											
DAAM1	23002	broad.mit.edu	37	14	59797962	59797962	+	Silent	SNP	G	G	A			TCGA-FG-A713-01A-11D-A32B-08	TCGA-FG-A713-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed89386f-0b6c-4b6b-bbac-c869aa72a025	bc2fa6a0-87a9-4052-a9ee-9a1d54413f32	g.chr14:59797962G>A	ENST00000395125.1	+	13	1619	c.1596G>A	c.(1594-1596)tcG>tcA	p.S532S	DAAM1_ENST00000351081.1_Silent_p.S532S|DAAM1_ENST00000360909.3_Silent_p.S532S	NM_014992.2	NP_055807.1	Q9Y4D1	DAAM1_HUMAN	dishevelled associated activator of morphogenesis 1	532	FH1.|Pro-rich.				actin cytoskeleton organization	cytoplasm|plasma membrane	actin binding|Rho GTPase binding			breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.165)		GTGGACCCTCGCCTGGAGCAC	0.517													14	81					0	0	1	0	0	A	59797962	G	A	59797962	2	1	224	1	0	0	0	0	0	0	0	1	4239	1074	38	1		1	DAAM1	14	59797962	Silent	SNP	G	TCGA-FG-A713-01A-11D-A32B-08	28179820	59797962	47551578	31	26157											
GREM1	26585	broad.mit.edu	37	15	33023158	33023158	+	Silent	SNP	G	G	A			TCGA-FG-A713-01A-11D-A32B-08	TCGA-FG-A713-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed89386f-0b6c-4b6b-bbac-c869aa72a025	bc2fa6a0-87a9-4052-a9ee-9a1d54413f32	g.chr15:33023158G>A	ENST00000300177.4	+	2	456	c.267G>A	c.(265-267)ctG>ctA	p.L89L	GREM1_ENST00000560830.1_Silent_p.L48L|GREM1_ENST00000322805.4_Silent_p.L48L|GREM1_ENST00000560677.1_3'UTR	NM_001191322.1|NM_001191323.1|NM_013372.6	NP_001178251.1|NP_001178252.1|NP_037504.1	O60565	GREM1_HUMAN	gremlin 1, DAN family BMP antagonist	89					negative regulation of BMP signaling pathway|nervous system development|regulation of epithelial to mesenchymal transition	extracellular space	cytokine activity			breast(1)|endometrium(1)|large_intestine(1)|lung(6)|prostate(1)	10		all_lung(180;1.49e-09)		all cancers(64;2.97e-18)|Epithelial(43;3.15e-12)|GBM - Glioblastoma multiforme(186;2.32e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0107)		GCAAATACCTGAAGCGAGACT	0.632													7	31					0	0	1	0	0	A	33023158	G	A	33023158	2	1	224	1	0	0	0	0	0	0	0	1	6802	1277	45	2		2	GREM1	15	33023158	Silent	SNP	G	TCGA-FG-A713-01A-11D-A32B-08		33023158	69508234	32	26158											
SEC14L5	9717	broad.mit.edu	37	16	5053535	5053535	+	Silent	SNP	C	C	T			TCGA-FG-A713-01A-11D-A32B-08	TCGA-FG-A713-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed89386f-0b6c-4b6b-bbac-c869aa72a025	bc2fa6a0-87a9-4052-a9ee-9a1d54413f32	g.chr16:5053535C>T	ENST00000251170.7	+	11	1443	c.1263C>T	c.(1261-1263)atC>atT	p.I421I		NM_014692.1	NP_055507.1	O43304	S14L5_HUMAN	SEC14-like 5 (S. cerevisiae)	421	CRAL-TRIO.					integral to membrane|intracellular	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|skin(1)	29						GGCTGCTCATCGTGCGAGCCC	0.657													7	32					0	0	1	0	0	T	5053535	C	T	5053535	2	4	224	1	0	0	0	0	0	0	0	1	14039	874	31	1		1	SEC14L5	16	5053535	Silent	SNP	C	TCGA-FG-A713-01A-11D-A32B-08		5053535	85301218	33	26159											
SDK2	54549	broad.mit.edu	37	17	71382018	71382018	+	Frame_Shift_Del	DEL	G	G	-			TCGA-FG-A713-01A-11D-A32B-08	TCGA-FG-A713-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed89386f-0b6c-4b6b-bbac-c869aa72a025	bc2fa6a0-87a9-4052-a9ee-9a1d54413f32	g.chr17:71382018delG	ENST00000392650.3	-	32	4537	c.4537delC	c.(4537-4539)cacfs	p.H1513fs	SDK2_ENST00000388726.3_Frame_Shift_Del_p.H1513fs	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	1513	Fibronectin type-III 10.				cell adhesion	integral to membrane				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						GTGGTGGTGTGGGGCGTCACG	0.632													2	4	---	---	---	---						-	71382018	G	-	71382018	7	5	224	1	0	1	0	1	0	0	0	0	14023	1348	47	0	2037	0	SDK2	17	71382018	Frame_Shift_Del	DEL	G	TCGA-FG-A713-01A-11D-A32B-08		71382018	9813192	34	26160											
CEP192	55125	broad.mit.edu	37	18	13100327	13100327	+	Silent	SNP	A	A	G			TCGA-FG-A713-01A-11D-A32B-08	TCGA-FG-A713-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed89386f-0b6c-4b6b-bbac-c869aa72a025	bc2fa6a0-87a9-4052-a9ee-9a1d54413f32	g.chr18:13100327A>G	ENST00000506447.1	+	38	6767	c.6687A>G	c.(6685-6687)cgA>cgG	p.R2229R	CEP192_ENST00000540847.2_3'UTR|CEP192_ENST00000430049.2_Silent_p.R1754R|CEP192_ENST00000325971.8_Silent_p.R1633R	NM_032142.3	NP_115518.3	B7ZMF0	B7ZMF0_HUMAN	centrosomal protein 192kDa	1824										NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						TTCAAATTCGAGAAGATTTAA	0.343													6	38					0	0	1	0	0	G	13100327	A	G	13100327	2	3	224	1	0	0	0	0	0	0	0	1	3273	291	11	3		3	CEP192	18	13100327	Silent	SNP	A	TCGA-FG-A713-01A-11D-A32B-08		13100327	64976921	35	26161											
MED16	10025	broad.mit.edu	37	19	885978	885978	+	Missense_Mutation	SNP	C	C	G	rs137978287		TCGA-FG-A713-01A-11D-A32B-08	TCGA-FG-A713-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed89386f-0b6c-4b6b-bbac-c869aa72a025	bc2fa6a0-87a9-4052-a9ee-9a1d54413f32	g.chr19:885978C>G	ENST00000312090.6	-	5	821	c.671G>C	c.(670-672)gGc>gCc	p.G224A	MED16_ENST00000606828.1_Intron|MED16_ENST00000589119.1_Missense_Mutation_p.G224A|MED16_ENST00000395808.3_Missense_Mutation_p.G224A|MED16_ENST00000269814.4_Missense_Mutation_p.G224A|MED16_ENST00000325464.1_Missense_Mutation_p.G224A			Q9Y2X0	MED16_HUMAN	mediator complex subunit 16	224					androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	receptor activity|thyroid hormone receptor binding|thyroid hormone receptor coactivator activity|vitamin D receptor binding			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|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)		CACGATGTTGCCGCCGCCGGT	0.701													10	22					0	0	1	0	0	G	885978	C	G	885978	3	3	224	1	0	0	0	0	1	0	0	0	9484	739	26	5	2010	5	MED16	19	885978	Missense_Mutation	SNP	C	TCGA-FG-A713-01A-11D-A32B-08		885978	58243005	36	26162											
CIC	23152	broad.mit.edu	37	19	42791744	42791744	+	Missense_Mutation	SNP	C	C	A			TCGA-FG-A713-01A-11D-A32B-08	TCGA-FG-A713-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed89386f-0b6c-4b6b-bbac-c869aa72a025	bc2fa6a0-87a9-4052-a9ee-9a1d54413f32	g.chr19:42791744C>A	ENST00000572681.2	+	6	3425	c.3357C>A	c.(3355-3357)ttC>ttA	p.F1119L	CIC_ENST00000575354.2_Missense_Mutation_p.F210L|CIC_ENST00000160740.3_Missense_Mutation_p.F210L			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	210	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				TCATGATCTTCAGCAAGCGGC	0.622			"Mis, F, S"		oligodendroglioma								9	34					2.17888e-05	2.32744e-05	1	1	0	A	42791744	C	A	42791744	3	1	224	1	0	0	0	0	1	0	0	0	3446	825	29	5	648	5	CIC	19	42791744	Missense_Mutation	SNP	C	TCGA-FG-A713-01A-11D-A32B-08	41905766	42791744	16337239	37	26163											
ATRX	546	broad.mit.edu	37	X	76944310	76944310	+	Splice_Site	SNP	C	C	T			TCGA-FG-A713-01A-11D-A32B-08	TCGA-FG-A713-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed89386f-0b6c-4b6b-bbac-c869aa72a025	bc2fa6a0-87a9-4052-a9ee-9a1d54413f32	g.chrX:76944310C>T	ENST00000373344.5	-	7	809		c.e7+1		ATRX_ENST00000395603.3_Splice_Site|ATRX_ENST00000480283.1_Splice_Site	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked						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)	TCATTACATACCTTACAAATA	0.363			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						15	65					0	0	1	0	0	T	76944310	C	T	76944310	5	4	224	1	0	0	0	0	0	0	1	0	1206	521	18	2	6999	2	ATRX	23	76944310	Splice_Site	SNP	C	TCGA-FG-A713-01A-11D-A32B-08		76944310	78326250	38	26164											
SLC25A5	292	broad.mit.edu	37	X	118603879	118603879	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A713-01A-11D-A32B-08	TCGA-FG-A713-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed89386f-0b6c-4b6b-bbac-c869aa72a025	bc2fa6a0-87a9-4052-a9ee-9a1d54413f32	g.chrX:118603879G>A	ENST00000317881.8	+	2	483	c.367G>A	c.(367-369)Gca>Aca	p.A123T	SLC25A5_ENST00000460013.1_3'UTR	NM_001152.4	NP_001143.2	P05141	ADT2_HUMAN	solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 5	123					chromosome segregation|energy reserve metabolic process|interspecies interaction between organisms|regulation of insulin secretion|viral reproduction	integral to plasma membrane|mitochondrial inner membrane|mitochondrial nucleoid|MMXD complex	adenine transmembrane transporter activity|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|stomach(2)	12					Clodronate(DB00720)	GGGTGGTGCCGCAGGGGCCAC	0.527													4	165					0	0	1	0	0	A	118603879	G	A	118603879	3	1	224	1	0	0	0	0	1	0	0	0	14567	1087	38	1	373	1	SLC25A5	23	118603879	Missense_Mutation	SNP	G	TCGA-FG-A713-01A-11D-A32B-08	41659569	118603879	36666681	39	26165											
FLNA	2316	broad.mit.edu	37	X	153583249	153583249	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A713-01A-11D-A32B-08	TCGA-FG-A713-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed89386f-0b6c-4b6b-bbac-c869aa72a025	bc2fa6a0-87a9-4052-a9ee-9a1d54413f32	g.chrX:153583249C>T	ENST00000422373.1	-	30	5385	c.5137G>A	c.(5137-5139)Gtc>Atc	p.V1713I	FLNA_ENST00000369856.3_5'UTR|FLNA_ENST00000360319.4_Missense_Mutation_p.V1713I|FLNA_ENST00000344736.4_Missense_Mutation_p.V1713I|FLNA_ENST00000369850.3_Missense_Mutation_p.V1721I	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN	filamin A, alpha	1721					actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					ACACAGATGACGTATTTGCCC	0.622													3	48					0	0	1	0	0	T	153583249	C	T	153583249	3	4	224	1	0	0	0	0	1	0	0	0	5966	536	19	1	2854	1	FLNA	23	153583249	Missense_Mutation	SNP	C	TCGA-FG-A713-01A-11D-A32B-08	34979370	153583249	1687311	40	26166											
CDK11B	984	broad.mit.edu	37	1	1573136	1573136	+	Silent	SNP	G	G	A	rs17434073		TCGA-FG-A87N-01A-11D-A36O-08	TCGA-FG-A87N-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	031a2d19-942c-4c6d-afbe-b6135c7ea704	d87821a1-0286-4e2e-ab6a-5b94ddecf27e	g.chr1:1573136G>A	ENST00000407249.3	-	14	1460	c.1461C>T	c.(1459-1461)atC>atT	p.I487I	CDK11B_ENST00000317673.7_Silent_p.I485I|CDK11B_ENST00000341832.6_Silent_p.I440I|CDK11B_ENST00000340677.5_Silent_p.I474I			P21127	CD11B_HUMAN	cyclin-dependent kinase 11B	497	Protein kinase.				apoptosis|cell proliferation|mitosis|regulation of cell growth|regulation of mRNA processing|regulation of transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity|protein binding			endometrium(2)|large_intestine(3)|lung(4)|skin(1)|stomach(2)	12						TAACGGTGACGATGTTGGGAT	0.617													4	186					0	0	1	0	0	A	1573136	G	A	1573136	2	1	225	1	0	0	0	0	0	0	0	1	3149	1048	37	1		1	CDK11B	1	1573136	Silent	SNP	G	TCGA-FG-A87N-01A-11D-A36O-08		1573136	247677485	1	26167											
UBR4	23352	broad.mit.edu	37	1	19439194	19439194	+	Silent	SNP	G	G	A	rs148095267	byFrequency	TCGA-FG-A87N-01A-11D-A36O-08	TCGA-FG-A87N-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	031a2d19-942c-4c6d-afbe-b6135c7ea704	d87821a1-0286-4e2e-ab6a-5b94ddecf27e	g.chr1:19439194G>A	ENST00000375267.2	-	78	11628	c.11625C>T	c.(11623-11625)tgC>tgT	p.C3875C	UBR4_ENST00000375217.2_Silent_p.C3868C|UBR4_ENST00000375226.2_Silent_p.C3851C|UBR4_ENST00000375254.3_Silent_p.C3875C|UBR4_ENST00000375218.3_3'UTR			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	3875					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		CAGCCGAGGCGCAGCCATAGC	0.612													8	172					0	0	1	0	0	A	19439194	G	A	19439194	2	1	225	1	0	0	0	0	0	0	0	1	16965	1079	38	1		1	UBR4	1	19439194	Silent	SNP	G	TCGA-FG-A87N-01A-11D-A36O-08	17866058	19439194	229811427	2	26168											
PDZK1	5174	broad.mit.edu	37	1	145761247	145761247	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A87N-01A-11D-A36O-08	TCGA-FG-A87N-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	031a2d19-942c-4c6d-afbe-b6135c7ea704	d87821a1-0286-4e2e-ab6a-5b94ddecf27e	g.chr1:145761247G>A	ENST00000344770.2	+	7	1133	c.1060G>A	c.(1060-1062)Gct>Act	p.A354T	PDZK1_ENST00000451928.2_Missense_Mutation_p.A243T|PDZK1_ENST00000417171.1_Missense_Mutation_p.A354T	NM_002614.4	NP_002605.2	Q5T2W1	NHRF3_HUMAN	PDZ domain containing 1	354					carnitine transport|cell proliferation|drug transport|positive regulation of ion transmembrane transport	brush border membrane|cytoplasm	PDZ domain binding|transporter activity	p.A354T(1)		NS(1)|endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)	7	all_hematologic(18;0.00473)|Acute lymphoblastic leukemia(18;0.0786)		KIRC - Kidney renal clear cell carcinoma(6;0.0764)|Kidney(552;0.118)|Colorectal(543;0.229)			GGAGGCTCCAGCTCCTACTCC	0.428													38	43					0	0	1	0	0	A	145761247	G	A	145761247	3	1	225	1	0	0	0	0	1	0	0	0	11754	971	34	2	1082	2	PDZK1	1	145761247	Missense_Mutation	SNP	G	TCGA-FG-A87N-01A-11D-A36O-08	126322053	145761247	103489374	3	26169											
CENPF	1063	broad.mit.edu	37	1	214818125	214818125	+	Nonsense_Mutation	SNP	A	A	T			TCGA-FG-A87N-01A-11D-A36O-08	TCGA-FG-A87N-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	031a2d19-942c-4c6d-afbe-b6135c7ea704	d87821a1-0286-4e2e-ab6a-5b94ddecf27e	g.chr1:214818125A>T	ENST00000366955.3	+	13	5380	c.5212A>T	c.(5212-5214)Aaa>Taa	p.K1738*		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	1834					cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		AGGGGAAGATAAAACCCAGGG	0.448													21	32					0	0	1	0	0	T	214818125	A	T	214818125	4	4	225	1	0	0	0	0	0	1	0	0	3253	363	13	5	5258	5	CENPF	1	214818125	Nonsense_Mutation	SNP	A	TCGA-FG-A87N-01A-11D-A36O-08	69056878	214818125	34432496	4	26170											
DISP1	84976	broad.mit.edu	37	1	223179138	223179138	+	Missense_Mutation	SNP	T	T	G			TCGA-FG-A87N-01A-11D-A36O-08	TCGA-FG-A87N-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	031a2d19-942c-4c6d-afbe-b6135c7ea704	d87821a1-0286-4e2e-ab6a-5b94ddecf27e	g.chr1:223179138T>G	ENST00000284476.6	+	8	4563	c.4399T>G	c.(4399-4401)Tta>Gta	p.L1467V		NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	1467					diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		ATTTAATCATTTAATGGGGGA	0.433													20	40					0	0	1	0	0	G	223179138	T	G	223179138	3	3	225	1	0	0	0	0	1	0	0	0	4567	1838	64	5	4425	5	DISP1	1	223179138	Missense_Mutation	SNP	T	TCGA-FG-A87N-01A-11D-A36O-08	8361013	223179138	26071483	5	26171											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-FG-A87N-01A-11D-A36O-08	TCGA-FG-A87N-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	031a2d19-942c-4c6d-afbe-b6135c7ea704	d87821a1-0286-4e2e-ab6a-5b94ddecf27e	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	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								33	64					0	0	1	0	0	T	209113112	C	T	209113112	3	4	225	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-FG-A87N-01A-11D-A36O-08		209113112	34086261	6	26172											
CTBP1	1487	broad.mit.edu	37	4	1232006	1232008	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-FG-A87N-01A-11D-A36O-08	TCGA-FG-A87N-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	031a2d19-942c-4c6d-afbe-b6135c7ea704	d87821a1-0286-4e2e-ab6a-5b94ddecf27e	g.chr4:1232006_1232008delAGA	ENST00000510568.1	-	2	716_718	c.125_127delTCT	c.(124-129)ttctgc>tgc	p.F42del	CTBP1_ENST00000290921.6_In_Frame_Del_p.F53del|CTBP1_ENST00000382952.3_In_Frame_Del_p.F42del|CTBP1_ENST00000515690.1_5'UTR			Q13363	CTBP1_HUMAN	C-terminal binding protein 1	53	Interaction with GLIS2 1 (By similarity).				interspecies interaction between organisms|negative regulation of cell proliferation|negative regulation of histone H4 acetylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of histone deacetylation|protein phosphorylation|regulation of cell cycle|regulation of transcription by chromatin organization|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|viral genome replication|white fat cell differentiation	cytoplasm|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein C-terminus binding|protein domain specific binding|transcription factor binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|urinary_tract(1)	8			OV - Ovarian serous cystadenocarcinoma(23;0.00818)	Colorectal(103;0.2)		TGCGCGTCGCAGAAGGCCACAGT	0.665													38	61	---	---	---	---						-	1232008	AGA	-	1232006	7	5	225	1	0	1	0	1	0	0	0	0	4021	188	7	0	1194	0	CTBP1	4	1232006	In_Frame_Del	DEL	AGA	TCGA-FG-A87N-01A-11D-A36O-08		1232006	189922270	7	26173											
ADAMTS3	9508	broad.mit.edu	37	4	73280660	73280660	+	Missense_Mutation	SNP	T	T	A			TCGA-FG-A87N-01A-11D-A36O-08	TCGA-FG-A87N-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	031a2d19-942c-4c6d-afbe-b6135c7ea704	d87821a1-0286-4e2e-ab6a-5b94ddecf27e	g.chr4:73280660T>A	ENST00000286657.4	-	4	569	c.533A>T	c.(532-534)gAg>gTg	p.E178V		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	178					collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			AATGAAATACTCTTCATTATC	0.353													52	74					0	0	1	0	0	A	73280660	T	A	73280660	3	1	225	1	0	0	0	0	1	0	0	0	266	1551	54	5	3160	5	ADAMTS3	4	73280660	Missense_Mutation	SNP	T	TCGA-FG-A87N-01A-11D-A36O-08	72048654	73280660	117873616	8	26174											
KLHL8	57563	broad.mit.edu	37	4	88106791	88106791	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-A87N-01A-11D-A36O-08	TCGA-FG-A87N-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	031a2d19-942c-4c6d-afbe-b6135c7ea704	d87821a1-0286-4e2e-ab6a-5b94ddecf27e	g.chr4:88106791T>C	ENST00000273963.5	-	3	718	c.377A>G	c.(376-378)tAt>tGt	p.Y126C	KLHL8_ENST00000512111.1_Missense_Mutation_p.Y126C|KLHL8_ENST00000545252.1_Intron|KLHL8_ENST00000425278.2_Intron|KLHL8_ENST00000498875.2_Intron	NM_020803.3	NP_065854.3	Q9P2G9	KLHL8_HUMAN	kelch-like family member 8	126	BTB.									breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)	17		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000603)		CCGTGAAGAATAGACAAACTT	0.423													35	46					0	0	1	0	0	C	88106791	T	C	88106791	3	2	225	1	0	0	0	0	1	0	0	0	8438	1406	49	3	1517	3	KLHL8	4	88106791	Missense_Mutation	SNP	T	TCGA-FG-A87N-01A-11D-A36O-08	14826131	88106791	103047485	9	26175											
TBC1D9	23158	broad.mit.edu	37	4	141677078	141677080	+	In_Frame_Del	DEL	CCG	CCG	-			TCGA-FG-A87N-01A-11D-A36O-08	TCGA-FG-A87N-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	031a2d19-942c-4c6d-afbe-b6135c7ea704	d87821a1-0286-4e2e-ab6a-5b94ddecf27e	g.chr4:141677078_141677080delCCG	ENST00000442267.2	-	1	194_196	c.120_122delCGG	c.(118-123)ggcgga>gga	p.40_41GG>G		NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	40						intracellular	calcium ion binding|Rab GTPase activator activity			endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				ACCCGCCAGTCCGCCGCCGCCGC	0.739													3	6	---	---	---	---						-	141677080	CCG	-	141677078	7	5	225	1	0	1	0	1	0	0	0	0	15687	855	30	0	3762	0	TBC1D9	4	141677078	In_Frame_Del	DEL	CCG	TCGA-FG-A87N-01A-11D-A36O-08	53570287	141677078	49477198	10	26176											
ZNF292	23036	broad.mit.edu	37	6	87865403	87865404	+	Frame_Shift_Ins	INS	-	-	T			TCGA-FG-A87N-01A-11D-A36O-08	TCGA-FG-A87N-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	031a2d19-942c-4c6d-afbe-b6135c7ea704	d87821a1-0286-4e2e-ab6a-5b94ddecf27e	g.chr6:87865403_87865404insT	ENST00000369577.3	+	1	137_138	c.94_95insT	c.(94-96)ctgfs	p.L32fs	ZNF292_ENST00000392985.3_Frame_Shift_Ins_p.L32fs|ZNF292_ENST00000369578.2_3'UTR|ZNF292_ENST00000339907.4_Frame_Shift_Ins_p.L32fs	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	32					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		GCTCCAGGAGCTGGAGCTACAG	0.703													6	5	---	---	---	---						T	87865404	-	T	87865403	7	5	225	1	0	1	1	0	0	0	0	0	17883	796	28	0	96	0	ZNF292	6	87865403	Frame_Shift_Ins	INS	-	TCGA-FG-A87N-01A-11D-A36O-08		87865403	83249664	11	26177											
PMPCB	9512	broad.mit.edu	37	7	102952301	102952301	+	Silent	SNP	T	T	C			TCGA-FG-A87N-01A-11D-A36O-08	TCGA-FG-A87N-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	031a2d19-942c-4c6d-afbe-b6135c7ea704	d87821a1-0286-4e2e-ab6a-5b94ddecf27e	g.chr7:102952301T>C	ENST00000249269.4	+	11	1325	c.1287T>C	c.(1285-1287)taT>taC	p.Y429Y	PMPCB_ENST00000428154.1_Silent_p.Y429Y|PMPCB_ENST00000420236.2_Silent_p.Y324Y	NM_004279.2	NP_004270.2	O75439	MPPB_HUMAN	peptidase (mitochondrial processing) beta	429					proteolysis	mitochondrial matrix	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(9)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TGTTATGCTATAATAGAAGGA	0.343													5	47					0	0	1	0	0	C	102952301	T	C	102952301	2	2	225	1	0	0	0	0	0	0	0	1	12189	1413	49	3		3	PMPCB	7	102952301	Silent	SNP	T	TCGA-FG-A87N-01A-11D-A36O-08		102952301	56186362	12	26178											
UTP23	84294	broad.mit.edu	37	8	117778967	117778967	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A87N-01A-11D-A36O-08	TCGA-FG-A87N-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	031a2d19-942c-4c6d-afbe-b6135c7ea704	d87821a1-0286-4e2e-ab6a-5b94ddecf27e	g.chr8:117778967G>A	ENST00000309822.2	+	1	226	c.125G>A	c.(124-126)cGc>cAc	p.R42H	UTP23_ENST00000357148.3_Missense_Mutation_p.R42H|UTP23_ENST00000517820.1_Missense_Mutation_p.R42H	NM_032334.2	NP_115710.2	Q9BRU9	UTP23_HUMAN	UTP23, small subunit (SSU) processome component, homolog (yeast)	42					rRNA processing	nucleolus				breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	12						CTGCGGGGCCGCATCCAGCTG	0.677											OREG0018934	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	21					0	0	1	0	0	A	117778967	G	A	117778967	3	1	225	1	0	0	0	0	1	0	0	0	17160	1087	38	1	127	1	UTP23	8	117778967	Missense_Mutation	SNP	G	TCGA-FG-A87N-01A-11D-A36O-08		117778967	28585055	13	26179											
CPSF1	29894	broad.mit.edu	37	8	145626338	145626338	+	Silent	SNP	G	G	A			TCGA-FG-A87N-01A-11D-A36O-08	TCGA-FG-A87N-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	031a2d19-942c-4c6d-afbe-b6135c7ea704	d87821a1-0286-4e2e-ab6a-5b94ddecf27e	g.chr8:145626338G>A	ENST00000349769.3	-	6	613	c.519C>T	c.(517-519)caC>caT	p.H173H		NM_013291.2	NP_037423.2	Q10570	CPSF1_HUMAN	cleavage and polyadenylation specific factor 1, 160kDa	173					mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	mRNA 3'-UTR binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38	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;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			CGAGCCCCTCGTGCTCCTCAG	0.721													9	13					0	0	1	0	0	A	145626338	G	A	145626338	2	1	225	1	0	0	0	0	0	0	0	1	3847	1136	40	1		1	CPSF1	8	145626338	Silent	SNP	G	TCGA-FG-A87N-01A-11D-A36O-08	27847371	145626338	737684	14	26180											
VAV2	7410	broad.mit.edu	37	9	136648690	136648691	+	Frame_Shift_Ins	INS	-	-	TG			TCGA-FG-A87N-01A-11D-A36O-08	TCGA-FG-A87N-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	031a2d19-942c-4c6d-afbe-b6135c7ea704	d87821a1-0286-4e2e-ab6a-5b94ddecf27e	g.chr9:136648690_136648691insTG	ENST00000371851.1	-	17	1952_1953	c.1627_1628insCA	c.(1627-1629)atgfs	p.M543fs	VAV2_ENST00000406606.3_Frame_Shift_Ins_p.M543fs|VAV2_ENST00000371850.3_Frame_Shift_Ins_p.M553fs			P52735	VAV2_HUMAN	vav 2 guanine nucleotide exchange factor	553					angiogenesis|apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	metal ion binding|Rho guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1)	35				OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06)		CTTGGTACACATGTATCCCTGG	0.629													11	43	---	---	---	---						TG	136648691	-	TG	136648690	7	5	225	1	0	1	1	0	0	0	0	0	17192	217	8	0	1026	0	VAV2	9	136648690	Frame_Shift_Ins	INS	-	TCGA-FG-A87N-01A-11D-A36O-08		136648690	4564741	15	26181											
BEND7	222389	broad.mit.edu	37	10	13534788	13534788	+	Frame_Shift_Del	DEL	T	T	-			TCGA-FG-A87N-01A-11D-A36O-08	TCGA-FG-A87N-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	031a2d19-942c-4c6d-afbe-b6135c7ea704	d87821a1-0286-4e2e-ab6a-5b94ddecf27e	g.chr10:13534788delT	ENST00000341083.3	-	5	800	c.504delA	c.(502-504)aaafs	p.K168fs	BEND7_ENST00000396898.2_Frame_Shift_Del_p.K233fs|BEND7_ENST00000396900.2_Frame_Shift_Del_p.K220fs|BEND7_ENST00000378605.3_Frame_Shift_Del_p.K181fs	NM_152751.2	NP_689964.2	Q8N7W2	BEND7_HUMAN	BEN domain containing 7	220							protein binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|stomach(1)	17						TTGGGGGCACTTTTTTCTTTT	0.458													51	75	---	---	---	---						-	13534788	T	-	13534788	7	5	225	1	0	1	0	1	0	0	0	0	1401	1606	56	0	934	0	BEND7	10	13534788	Frame_Shift_Del	DEL	T	TCGA-FG-A87N-01A-11D-A36O-08		13534788	121999959	16	26182											
NEBL	10529	broad.mit.edu	37	10	21098829	21098829	+	Splice_Site	SNP	T	T	C			TCGA-FG-A87N-01A-11D-A36O-08	TCGA-FG-A87N-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	031a2d19-942c-4c6d-afbe-b6135c7ea704	d87821a1-0286-4e2e-ab6a-5b94ddecf27e	g.chr10:21098829T>C	ENST00000377122.4	-	25	2915		c.e25-2		NEBL_ENST00000377159.4_Intron|NEBL_ENST00000417816.2_Intron	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN	nebulette						regulation of actin filament length		actin binding|structural constituent of muscle			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						CTTTGAGGTCTTTTGCCAAAA	0.393													18	32					0	0	1	0	0	C	21098829	T	C	21098829	5	2	225	1	0	0	0	0	0	0	1	0	10350	1623	56	3	543	3	NEBL	10	21098829	Splice_Site	SNP	T	TCGA-FG-A87N-01A-11D-A36O-08	7564041	21098829	114435918	17	26183											
ZNF485	220992	broad.mit.edu	37	10	44112341	44112341	+	Missense_Mutation	SNP	A	A	G			TCGA-FG-A87N-01A-11D-A36O-08	TCGA-FG-A87N-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	031a2d19-942c-4c6d-afbe-b6135c7ea704	d87821a1-0286-4e2e-ab6a-5b94ddecf27e	g.chr10:44112341A>G	ENST00000361807.3	+	5	1044	c.850A>G	c.(850-852)Act>Gct	p.T284A	ZNF485_ENST00000374435.3_Missense_Mutation_p.T284A|ZNF485_ENST00000374437.2_Missense_Mutation_p.T193A	NM_145312.3	NP_660355.2	Q8NCK3	ZN485_HUMAN	zinc finger protein 485	284					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16						GGATAATTCAACTGTGTTGGA	0.403													22	37					0	0	1	0	0	G	44112341	A	G	44112341	3	3	225	1	0	0	0	0	1	0	0	0	17995	43	2	3	864	3	ZNF485	10	44112341	Missense_Mutation	SNP	A	TCGA-FG-A87N-01A-11D-A36O-08	23013512	44112341	91422406	18	26184											
TDRD1	56165	broad.mit.edu	37	10	115964540	115964540	+	Silent	SNP	T	T	C			TCGA-FG-A87N-01A-11D-A36O-08	TCGA-FG-A87N-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	031a2d19-942c-4c6d-afbe-b6135c7ea704	d87821a1-0286-4e2e-ab6a-5b94ddecf27e	g.chr10:115964540T>C	ENST00000251864.2	+	10	1338	c.1185T>C	c.(1183-1185)tgT>tgC	p.C395C	TDRD1_ENST00000369280.1_Silent_p.C395C|TDRD1_ENST00000369282.1_Silent_p.C395C|TDRD1_ENST00000369281.2_Silent_p.C395C|TDRD1_ENST00000422662.1_Silent_p.C56C	NM_198795.1	NP_942090.1	Q9BXT4	TDRD1_HUMAN	tudor domain containing 1	395					DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	nucleic acid binding|protein binding|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		GCAGTGATTGTATCAAAGCTA	0.398													25	10					0	0	1	0	0	C	115964540	T	C	115964540	2	2	225	1	0	0	0	0	0	0	0	1	15789	1644	57	3		3	TDRD1	10	115964540	Silent	SNP	T	TCGA-FG-A87N-01A-11D-A36O-08	71852199	115964540	19570207	19	26185											
FAM160A2	84067	broad.mit.edu	37	11	6233023	6233023	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A87N-01A-11D-A36O-08	TCGA-FG-A87N-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	031a2d19-942c-4c6d-afbe-b6135c7ea704	d87821a1-0286-4e2e-ab6a-5b94ddecf27e	g.chr11:6233023C>T	ENST00000265978.4	-	12	3032	c.2674G>A	c.(2674-2676)Gca>Aca	p.A892T	FAM160A2_ENST00000529360.1_5'UTR|FAM160A2_ENST00000449352.2_Missense_Mutation_p.A878T	NM_001098794.1|NM_032127.3	NP_001092264.1|NP_115503.2	Q8N612	F16A2_HUMAN	family with sequence similarity 160, member A2	878					early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|protein transport	FHF complex	protein binding	p.A892T(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						ACCAATTGTGCCGCCTGCCGG	0.627													4	151					0	0	1	0	0	T	6233023	C	T	6233023	3	4	225	1	0	0	0	0	1	0	0	0	5499	739	26	2	290	2	FAM160A2	11	6233023	Missense_Mutation	SNP	C	TCGA-FG-A87N-01A-11D-A36O-08		6233023	128773493	20	26186											
FKBP4	2288	broad.mit.edu	37	12	2909744	2909744	+	Splice_Site	SNP	G	G	A			TCGA-FG-A87N-01A-11D-A36O-08	TCGA-FG-A87N-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	031a2d19-942c-4c6d-afbe-b6135c7ea704	d87821a1-0286-4e2e-ab6a-5b94ddecf27e	g.chr12:2909744G>A	ENST00000001008.4	+	8	1219		c.e8+1		RP4-816N1.6_ENST00000547834.1_RNA|RP4-816N1.7_ENST00000547042.1_RNA	NM_002014.3	NP_002005.1	Q02790	FKBP4_HUMAN	FK506 binding protein 4, 59kDa						negative regulation of microtubule polymerization or depolymerization|negative regulation of neuron projection development|protein folding	axonal growth cone|cytosol|membrane|microtubule|nucleus	FK506 binding|heat shock protein binding|peptidyl-prolyl cis-trans isomerase activity|protein binding, bridging			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(1)	14			OV - Ovarian serous cystadenocarcinoma(31;0.00105)		Dimethyl sulfoxide(DB01093)	CTGTAACAAGGTGAGGCCCCC	0.547													29	31					0	0	1	0	0	A	2909744	G	A	2909744	5	1	225	1	0	0	0	0	0	0	1	0	5943	1275	44	2	1063	2	FKBP4	12	2909744	Splice_Site	SNP	G	TCGA-FG-A87N-01A-11D-A36O-08		2909744	130942151	21	26187											
HELB	92797	broad.mit.edu	37	12	66703572	66703572	+	Silent	SNP	T	T	A			TCGA-FG-A87N-01A-11D-A36O-08	TCGA-FG-A87N-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	031a2d19-942c-4c6d-afbe-b6135c7ea704	d87821a1-0286-4e2e-ab6a-5b94ddecf27e	g.chr12:66703572T>A	ENST00000247815.4	+	4	923	c.864T>A	c.(862-864)acT>acA	p.T288T		NM_033647.3	NP_387467.2	Q8NG08	HELB_HUMAN	helicase (DNA) B	288					DNA replication, synthesis of RNA primer		ATP binding|ATP-dependent 5'-3' DNA helicase activity|single-stranded DNA-dependent ATP-dependent DNA helicase activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	40			GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)		AGCTGATGACTGATTTGGAGA	0.383													49	61					0	0	1	0	0	A	66703572	T	A	66703572	2	1	225	1	0	0	0	0	0	0	0	1	7086	1567	55	5		5	HELB	12	66703572	Silent	SNP	T	TCGA-FG-A87N-01A-11D-A36O-08	63793828	66703572	67148323	22	26188											
LRCH1	23143	broad.mit.edu	37	13	47266679	47266679	+	Silent	SNP	C	C	T			TCGA-FG-A87N-01A-11D-A36O-08	TCGA-FG-A87N-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	031a2d19-942c-4c6d-afbe-b6135c7ea704	d87821a1-0286-4e2e-ab6a-5b94ddecf27e	g.chr13:47266679C>T	ENST00000311191.6	+	8	1252	c.1023C>T	c.(1021-1023)gaC>gaT	p.D341D	LRCH1_ENST00000389798.3_Silent_p.D341D|LRCH1_ENST00000389797.3_Silent_p.D341D	NM_001164213.1	NP_001157685	Q9Y2L9	LRCH1_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 1	341										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(13;5.61e-07)|Lung NSC(96;0.000117)|Breast(56;0.000141)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000123)		AGCCTTCTGACGAAGACACTG	0.413													64	81					0	0	1	0	0	T	47266679	C	T	47266679	2	4	225	1	0	0	0	0	0	0	0	1	8977	535	19	1		1	LRCH1	13	47266679	Silent	SNP	C	TCGA-FG-A87N-01A-11D-A36O-08		47266679	67903199	23	26189											
SCFD1	23256	broad.mit.edu	37	14	31091567	31091569	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-FG-A87N-01A-11D-A36O-08	TCGA-FG-A87N-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	031a2d19-942c-4c6d-afbe-b6135c7ea704	d87821a1-0286-4e2e-ab6a-5b94ddecf27e	g.chr14:31091567_31091569delCAG	ENST00000458591.2	+	1	250_252	c.23_25delCAG	c.(22-27)acagca>aca	p.A13del	SCFD1_ENST00000541123.1_5'UTR|SCFD1_ENST00000544052.2_5'UTR|SCFD1_ENST00000396629.2_5'UTR|SCFD1_ENST00000421551.3_5'UTR	NM_016106.3	NP_057190.2	Q8WVM8	SCFD1_HUMAN	sec1 family domain containing 1	13	Poly-Ala.				post-Golgi vesicle-mediated transport|protein transport|regulation of ER to Golgi vesicle-mediated transport|response to toxin|retrograde vesicle-mediated transport, Golgi to ER|vesicle docking involved in exocytosis	cis-Golgi network|endoplasmic reticulum membrane|Golgi cisterna membrane|Golgi-associated vesicle|plasma membrane	syntaxin-5 binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)	13	Hepatocellular(127;0.0877)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)	GBM - Glioblastoma multiforme(265;0.0181)		gcggcagcgacagcagcagcagc	0.645													2	4	---	---	---	---						-	31091569	CAG	-	31091567	7	5	225	1	0	1	0	1	0	0	0	0	13942	478	17	0	25	0	SCFD1	14	31091567	In_Frame_Del	DEL	CAG	TCGA-FG-A87N-01A-11D-A36O-08		31091567	76257973	24	26190											
FRMD6	122786	broad.mit.edu	37	14	52188776	52188776	+	Silent	SNP	G	G	A			TCGA-FG-A87N-01A-11D-A36O-08	TCGA-FG-A87N-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	031a2d19-942c-4c6d-afbe-b6135c7ea704	d87821a1-0286-4e2e-ab6a-5b94ddecf27e	g.chr14:52188776G>A	ENST00000395718.2	+	12	1731	c.1446G>A	c.(1444-1446)tcG>tcA	p.S482S	FRMD6_ENST00000344768.5_Silent_p.S490S|FRMD6_ENST00000554167.1_Silent_p.S413S|FRMD6_ENST00000553556.1_Silent_p.S132S|FRMD6_ENST00000356218.4_Silent_p.S482S	NM_001267046.1|NM_152330.3	NP_001253975.1|NP_689543.1	Q96NE9	FRMD6_HUMAN	FERM domain containing 6	490						cytoskeleton|mitochondrion|plasma membrane	binding			breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_epithelial(31;0.0163)|Breast(41;0.089)					TGCTCATGTCGCGGAAGCTGA	0.483													41	35					0	0	1	0	0	A	52188776	G	A	52188776	2	1	225	1	0	0	0	0	0	0	0	1	6089	1074	38	1		1	FRMD6	14	52188776	Silent	SNP	G	TCGA-FG-A87N-01A-11D-A36O-08	21097209	52188776	55160764	25	26191											
TTLL5	23093	broad.mit.edu	37	14	76259309	76259309	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A87N-01A-11D-A36O-08	TCGA-FG-A87N-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	031a2d19-942c-4c6d-afbe-b6135c7ea704	d87821a1-0286-4e2e-ab6a-5b94ddecf27e	g.chr14:76259309G>A	ENST00000298832.9	+	27	3242	c.3037G>A	c.(3037-3039)Gag>Aag	p.E1013K	TTLL5_ENST00000557636.1_Missense_Mutation_p.E1028K|TTLL5_ENST00000556893.1_Missense_Mutation_p.E564K|TTLL5_ENST00000554510.1_Missense_Mutation_p.E522K	NM_015072.4	NP_055887.3	Q6EMB2	TTLL5_HUMAN	tubulin tyrosine ligase-like family, member 5	1013					protein modification process|transcription, DNA-dependent	centrosome|cilium|microtubule basal body|nucleus	tubulin-tyrosine ligase activity			NS(2)|breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(3)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	50				BRCA - Breast invasive adenocarcinoma(234;0.029)		AACACAAAAAGAGGGAGAAGA	0.413													22	28					0	0	1	0	0	A	76259309	G	A	76259309	3	1	225	1	0	0	0	0	1	0	0	0	16792	943	33	2	3139	2	TTLL5	14	76259309	Missense_Mutation	SNP	G	TCGA-FG-A87N-01A-11D-A36O-08	24070533	76259309	31090231	26	26192											
AAGAB	79719	broad.mit.edu	37	15	67529108	67529108	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A87N-01A-11D-A36O-08	TCGA-FG-A87N-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	031a2d19-942c-4c6d-afbe-b6135c7ea704	d87821a1-0286-4e2e-ab6a-5b94ddecf27e	g.chr15:67529108C>T	ENST00000261880.5	-	2	228	c.124G>A	c.(124-126)Gtg>Atg	p.V42M	AAGAB_ENST00000542650.1_De_novo_Start_InFrame|AAGAB_ENST00000561452.1_De_novo_Start_InFrame	NM_001271885.1|NM_001271886.1|NM_024666.3	NP_001258814.1|NP_001258815.1|NP_078942.3	Q6PD74	AAGAB_HUMAN	alpha- and gamma-adaptin binding protein	42					protein transport	cytoplasm				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	9						TAAAATCTCACAGCATCATTG	0.343													15	30					0	0	1	0	0	T	67529108	C	T	67529108	3	4	225	1	0	0	0	0	1	0	0	0	15	478	17	2	859	2	AAGAB	15	67529108	Missense_Mutation	SNP	C	TCGA-FG-A87N-01A-11D-A36O-08		67529108	35002284	27	26193											
CDR2	1039	broad.mit.edu	37	16	22361098	22361098	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A87N-01A-11D-A36O-08	TCGA-FG-A87N-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	031a2d19-942c-4c6d-afbe-b6135c7ea704	d87821a1-0286-4e2e-ab6a-5b94ddecf27e	g.chr16:22361098C>T	ENST00000268383.2	-	3	572	c.265G>A	c.(265-267)Gtc>Atc	p.V89I		NM_001802.1	NP_001793.1	Q01850	CDR2_HUMAN	cerebellar degeneration-related protein 2, 62kDa	89						nucleus	protein binding			endometrium(3)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1)	11				GBM - Glioblastoma multiforme(48;0.0188)		CTTGCTGTGACGTCTAATTGT	0.423													17	219					0	0	1	0	0	T	22361098	C	T	22361098	3	4	225	1	0	0	0	0	1	0	0	0	3194	536	19	1	1111	1	CDR2	16	22361098	Missense_Mutation	SNP	C	TCGA-FG-A87N-01A-11D-A36O-08		22361098	67993655	28	26194											
MT4	84560	broad.mit.edu	37	16	56602775	56602775	+	Silent	SNP	G	G	A			TCGA-FG-A87N-01A-11D-A36O-08	TCGA-FG-A87N-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	031a2d19-942c-4c6d-afbe-b6135c7ea704	d87821a1-0286-4e2e-ab6a-5b94ddecf27e	g.chr16:56602775G>A	ENST00000219162.3	+	3	200	c.120G>A	c.(118-120)ccG>ccA	p.P40P		NM_032935.2	NP_116324	P47944	MT4_HUMAN	metallothionein 4	40						cytoplasm	copper ion binding|zinc ion binding			ovary(1)|upper_aerodigestive_tract(1)	2						GCTGCCCCCCGGGCTGTGCCA	0.607													104	134					0	0	1	0	0	A	56602775	G	A	56602775	2	1	225	1	0	0	0	0	0	0	0	1	9955	1103	39	1		1	MT4	16	56602775	Silent	SNP	G	TCGA-FG-A87N-01A-11D-A36O-08	34241677	56602775	33751978	29	26195											
KIFC3	3801	broad.mit.edu	37	16	57798074	57798074	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A87N-01A-11D-A36O-08	TCGA-FG-A87N-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	031a2d19-942c-4c6d-afbe-b6135c7ea704	d87821a1-0286-4e2e-ab6a-5b94ddecf27e	g.chr16:57798074C>T	ENST00000379655.4	-	12	1855	c.1598G>A	c.(1597-1599)gGc>gAc	p.G533D	KIFC3_ENST00000540079.2_Missense_Mutation_p.G431D|KIFC3_ENST00000445690.2_Missense_Mutation_p.G533D|KIFC3_ENST00000541240.1_Missense_Mutation_p.G555D|KIFC3_ENST00000543930.1_Missense_Mutation_p.G391D|KIFC3_ENST00000465878.2_Missense_Mutation_p.G394D|KIFC3_ENST00000421376.2_Missense_Mutation_p.G394D|KIFC3_ENST00000562903.1_Missense_Mutation_p.G394D|KIFC3_ENST00000539578.1_Missense_Mutation_p.G475D	NM_005550.3	NP_005541.3	Q9BVG8	KIFC3_HUMAN	kinesin family member C3	533	Kinesin-motor.				epithelial cell-cell adhesion|microtubule-based movement|visual perception|zonula adherens maintenance	centrosome|cytoplasmic vesicle membrane|kinesin complex|microtubule|zonula adherens	ATP binding|microtubule motor activity			breast(2)|central_nervous_system(3)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23		all_neural(199;0.224)				GTACGTCTTGCCGGCGCCCGT	0.597													3	49					0	0	1	0	0	T	57798074	C	T	57798074	3	4	225	1	0	0	0	0	1	0	0	0	8356	739	26	2	944	2	KIFC3	16	57798074	Missense_Mutation	SNP	C	TCGA-FG-A87N-01A-11D-A36O-08	1195299	57798074	32556679	30	26196											
PRPF8	10594	broad.mit.edu	37	17	1582120	1582120	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A87N-01A-11D-A36O-08	TCGA-FG-A87N-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	031a2d19-942c-4c6d-afbe-b6135c7ea704	d87821a1-0286-4e2e-ab6a-5b94ddecf27e	g.chr17:1582120C>T	ENST00000572621.1	-	11	1920	c.1655G>A	c.(1654-1656)cGt>cAt	p.R552H	PRPF8_ENST00000304992.6_Missense_Mutation_p.R552H			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	552						catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		CTTAGTCAAACGCAGAACTTC	0.493													23	30					0	0	1	0	0	T	1582120	C	T	1582120	3	4	225	1	0	0	0	0	1	0	0	0	12627	536	19	1	5480	1	PRPF8	17	1582120	Missense_Mutation	SNP	C	TCGA-FG-A87N-01A-11D-A36O-08		1582120	79613090	31	26197											
NCOR1	9611	broad.mit.edu	37	17	15971338	15971338	+	Silent	SNP	C	C	T			TCGA-FG-A87N-01A-11D-A36O-08	TCGA-FG-A87N-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	031a2d19-942c-4c6d-afbe-b6135c7ea704	d87821a1-0286-4e2e-ab6a-5b94ddecf27e	g.chr17:15971338C>T	ENST00000268712.3	-	32	4868	c.4611G>A	c.(4609-4611)ggG>ggA	p.G1537G	NCOR1_ENST00000395857.3_Silent_p.G121G|NCOR1_ENST00000395851.1_Silent_p.G1553G	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	1537	Interaction with C1D (By similarity).|Interaction with ETO.				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		CAGGGTCCACCCCAGGCACTG	0.542													22	36					0	0	1	0	0	T	15971338	C	T	15971338	2	4	225	1	0	0	0	0	0	0	0	1	10282	610	22	2		2	NCOR1	17	15971338	Silent	SNP	C	TCGA-FG-A87N-01A-11D-A36O-08	14389218	15971338	65223872	32	26198											
NF1	4763	broad.mit.edu	37	17	29654516	29654516	+	Splice_Site	SNP	G	G	C			TCGA-FG-A87N-01A-11D-A36O-08	TCGA-FG-A87N-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	031a2d19-942c-4c6d-afbe-b6135c7ea704	d87821a1-0286-4e2e-ab6a-5b94ddecf27e	g.chr17:29654516G>C	ENST00000358273.4	+	38	5651		c.e38-1		NF1_ENST00000356175.3_Splice_Site|NF1_ENST00000581113.2_Splice_Site	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1						actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(3)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		CCACTTTCCAGGTTGGTTCTA	0.398			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			44	2					0	0	1	0	0	C	29654516	G	C	29654516	5	2	225	1	0	0	0	0	0	0	1	0	10403	1014	35	4	5479	4	NF1	17	29654516	Splice_Site	SNP	G	TCGA-FG-A87N-01A-11D-A36O-08	13683178	29654516	51540694	33	26199											
SAP30BP	29115	broad.mit.edu	37	17	73695883	73695883	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A87N-01A-11D-A36O-08	TCGA-FG-A87N-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	031a2d19-942c-4c6d-afbe-b6135c7ea704	d87821a1-0286-4e2e-ab6a-5b94ddecf27e	g.chr17:73695883C>T	ENST00000584667.1	+	5	585	c.328C>T	c.(328-330)Cgg>Tgg	p.R110W	SAP30BP_ENST00000355423.3_Missense_Mutation_p.R94W|SAP30BP_ENST00000579864.1_3'UTR	NM_013260.6	NP_037392.1	Q9UHR5	S30BP_HUMAN	SAP30 binding protein	110					apoptosis|induction of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)	17	all_cancers(13;6.42e-08)		all cancers(21;4.25e-07)|Epithelial(20;9.57e-07)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			TGAAAGAGTTCGGAACATGTC	0.453													59	86					0	0	1	0	0	T	73695883	C	T	73695883	3	4	225	1	0	0	0	0	1	0	0	0	13887	875	31	1	346	1	SAP30BP	17	73695883	Missense_Mutation	SNP	C	TCGA-FG-A87N-01A-11D-A36O-08	44041367	73695883	7499327	34	26200											
SYT4	6860	broad.mit.edu	37	18	40850545	40850545	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-A87N-01A-11D-A36O-08	TCGA-FG-A87N-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	031a2d19-942c-4c6d-afbe-b6135c7ea704	d87821a1-0286-4e2e-ab6a-5b94ddecf27e	g.chr18:40850545T>C	ENST00000255224.3	-	4	1407	c.1039A>G	c.(1039-1041)Aaa>Gaa	p.K347E	SYT4_ENST00000586678.1_Intron|SYT4_ENST00000590752.1_Missense_Mutation_p.K329E	NM_020783.3	NP_065834.1	Q9H2B2	SYT4_HUMAN	synaptotagmin IV	347	C2 2.					cell junction|integral to membrane|synaptic vesicle membrane	transporter activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44						GGGGTGCATTTCTTCACATGA	0.408													56	60					0	0	1	0	0	C	40850545	T	C	40850545	3	2	225	1	0	0	0	0	1	0	0	0	15533	1792	62	3	242	3	SYT4	18	40850545	Missense_Mutation	SNP	T	TCGA-FG-A87N-01A-11D-A36O-08		40850545	37226703	35	26201											
ZNF560	147741	broad.mit.edu	37	19	9578508	9578508	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A87N-01A-11D-A36O-08	TCGA-FG-A87N-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	031a2d19-942c-4c6d-afbe-b6135c7ea704	d87821a1-0286-4e2e-ab6a-5b94ddecf27e	g.chr19:9578508C>T	ENST00000301480.4	-	10	1328	c.1115G>A	c.(1114-1116)gGg>gAg	p.G372E		NM_152476.2	NP_689689.2	Q96MR9	ZN560_HUMAN	zinc finger protein 560	372					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						AGGTTTTATCCCAATGTGGGT	0.403													48	54					0	0	1	0	0	T	9578508	C	T	9578508	3	4	225	1	0	0	0	0	1	0	0	0	18048	623	22	2	1261	2	ZNF560	19	9578508	Missense_Mutation	SNP	C	TCGA-FG-A87N-01A-11D-A36O-08		9578508	49550475	36	26202											
BLVRB	645	broad.mit.edu	37	19	40953796	40953796	+	Silent	SNP	C	C	T			TCGA-FG-A87N-01A-11D-A36O-08	TCGA-FG-A87N-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	031a2d19-942c-4c6d-afbe-b6135c7ea704	d87821a1-0286-4e2e-ab6a-5b94ddecf27e	g.chr19:40953796C>T	ENST00000263368.4	-	5	772	c.621G>A	c.(619-621)taG>taA	p.*207*	BLVRB_ENST00000595483.1_Silent_p.*164*	NM_000713.2	NP_000704.1	P30043	BLVRB_HUMAN	biliverdin reductase B (flavin reductase (NADPH))	0					heme catabolic process	cytosol	biliverdin reductase activity|binding|flavin reductase activity			large_intestine(3)|lung(3)	6			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)		NADH(DB00157)|Riboflavin(DB00140)	GGACAGAGTGCTACTGGTACT	0.537													15	52					0	0	1	0	0	T	40953796	C	T	40953796	2	4	225	1	0	0	0	0	0	0	0	1	1451	808	28	2		2	BLVRB	19	40953796	Silent	SNP	C	TCGA-FG-A87N-01A-11D-A36O-08	31375288	40953796	18175187	37	26203											
ZNF446	55663	broad.mit.edu	37	19	58991096	58991096	+	Splice_Site	DEL	T	T	-			TCGA-FG-A87N-01A-11D-A36O-08	TCGA-FG-A87N-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	031a2d19-942c-4c6d-afbe-b6135c7ea704	d87821a1-0286-4e2e-ab6a-5b94ddecf27e	g.chr19:58991096delT	ENST00000596341.1	+	5	2932		c.e5+2		ZNF446_ENST00000335841.4_Intron|ZNF446_ENST00000594369.1_Splice_Site			Q9NWS9	ZN446_HUMAN	zinc finger protein 446						viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	8		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		TCTCCCTGGGTGAGGACCAGC	0.677													2	4	---	---	---	---						-	58991096	T	-	58991096	8	5	225	1	0	1	0	1	0	0	1	0	17976	1710	59	0	728	0	ZNF446	19	58991096	Splice_Site	DEL	T	TCGA-FG-A87N-01A-11D-A36O-08	18037300	58991096	137887	38	26204											
OSBPL2	9885	broad.mit.edu	37	20	60854344	60854344	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A87N-01A-11D-A36O-08	TCGA-FG-A87N-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	031a2d19-942c-4c6d-afbe-b6135c7ea704	d87821a1-0286-4e2e-ab6a-5b94ddecf27e	g.chr20:60854344G>A	ENST00000313733.3	+	7	825	c.623G>A	c.(622-624)gGc>gAc	p.G208D	OSBPL2_ENST00000439951.2_Missense_Mutation_p.G116D|OSBPL2_ENST00000358053.2_Missense_Mutation_p.G196D	NM_144498.1	NP_653081.1	Q9H1P3	OSBL2_HUMAN	oxysterol binding protein-like 2	208					lipid transport		lipid binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;1.33e-06)			AAGTTCTGGGGCAAAAGCGTG	0.587													3	45					0	0	1	0	0	A	60854344	G	A	60854344	3	1	225	1	0	0	0	0	1	0	0	0	11325	1203	42	2	645	2	OSBPL2	20	60854344	Missense_Mutation	SNP	G	TCGA-FG-A87N-01A-11D-A36O-08		60854344	2171176	39	26205											
ACSL4	2182	broad.mit.edu	37	X	108902736	108902736	+	Missense_Mutation	SNP	G	G	T			TCGA-FG-A87N-01A-11D-A36O-08	TCGA-FG-A87N-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	031a2d19-942c-4c6d-afbe-b6135c7ea704	d87821a1-0286-4e2e-ab6a-5b94ddecf27e	g.chrX:108902736G>T	ENST00000340800.2	-	16	2329	c.1825C>A	c.(1825-1827)Cag>Aag	p.Q609K	ACSL4_ENST00000348502.6_Missense_Mutation_p.Q568K|ACSL4_ENST00000469796.2_Missense_Mutation_p.Q609K	NM_022977.2	NP_075266.1	O60488	ACSL4_HUMAN	acyl-CoA synthetase long-chain family member 4	609					fatty acid metabolic process|learning or memory|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)	22					Icosapent(DB00159)|Troglitazone(DB00197)	ACATAGGACTGATCACTAAAA	0.323													39	67					3.21399e-22	3.27464e-22	1	1	0	T	108902736	G	T	108902736	3	4	225	1	0	0	0	0	1	0	0	0	179	1299	45	5	318	5	ACSL4	23	108902736	Missense_Mutation	SNP	G	TCGA-FG-A87N-01A-11D-A36O-08		108902736	46367824	40	26206											
CUL4B	8450	broad.mit.edu	37	X	119673128	119673128	+	Missense_Mutation	SNP	A	A	G			TCGA-FG-A87N-01A-11D-A36O-08	TCGA-FG-A87N-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	031a2d19-942c-4c6d-afbe-b6135c7ea704	d87821a1-0286-4e2e-ab6a-5b94ddecf27e	g.chrX:119673128A>G	ENST00000371322.5	-	12	1797	c.1736T>C	c.(1735-1737)aTc>aCc	p.I579T	CUL4B_ENST00000404115.3_Missense_Mutation_p.I597T|CUL4B_ENST00000336592.6_Missense_Mutation_p.I584T	NM_001079872.1	NP_001073341.1	Q13620	CUL4B_HUMAN	cullin 4B	597					cell cycle|DNA repair|ubiquitin-dependent protein catabolic process	Cul4B-RING ubiquitin ligase complex|nucleus	protein binding|ubiquitin protein ligase binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						CTTACCATAGATAAATCTAAA	0.289													17	24					0	0	1	0	0	G	119673128	A	G	119673128	3	3	225	1	0	0	0	0	1	0	0	0	4081	333	12	3	987	3	CUL4B	23	119673128	Missense_Mutation	SNP	A	TCGA-FG-A87N-01A-11D-A36O-08	10770392	119673128	35597432	41	26207											
SLC2A1	6513	broad.mit.edu	37	1	43395570	43395570	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr1:43395570C>T	ENST00000426263.3	-	5	831	c.653G>A	c.(652-654)cGc>cAc	p.R218H	SLC2A1_ENST00000415851.2_Intron|SLC2A1_ENST00000475162.1_Intron	NM_006516.2	NP_006507.2	P11166	GTR1_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 1	218					carbohydrate metabolic process|energy reserve metabolic process|regulation of insulin secretion|water-soluble vitamin metabolic process	integral to membrane|melanosome|membrane fraction|midbody	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|pancreas(2)	13	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0122)			Etomidate(DB00292)	CTCCTCGTTGCGGTTGATGAG	0.652													14	35					0	0	1	0	0	T	43395570	C	T	43395570	3	4	226	1	0	0	0	0	1	0	0	0	14593	768	27	1	849	1	SLC2A1	1	43395570	Missense_Mutation	SNP	C	TCGA-FG-A87Q-01A-11D-A36O-08		43395570	205855051	1	26208											
TIE1	7075	broad.mit.edu	37	1	43778122	43778122	+	Missense_Mutation	SNP	C	C	T	rs144699870		TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr1:43778122C>T	ENST00000372476.3	+	12	1856	c.1777C>T	c.(1777-1779)Cgg>Tgg	p.R593W	TIE1_ENST00000433781.2_Missense_Mutation_p.R238W	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	593	Fibronectin type-III 2.				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GGGGCAGGAGCGGCGGGAGAA	0.692													4	22					0	0	1	0	0	T	43778122	C	T	43778122	3	4	226	1	0	0	0	0	1	0	0	0	15953	759	27	1	1823	1	TIE1	1	43778122	Missense_Mutation	SNP	C	TCGA-FG-A87Q-01A-11D-A36O-08	382552	43778122	205472499	2	26209											
L1TD1	54596	broad.mit.edu	37	1	62676044	62676044	+	Missense_Mutation	SNP	A	A	T			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr1:62676044A>T	ENST00000498273.1	+	4	1893	c.1598A>T	c.(1597-1599)cAg>cTg	p.Q533L		NM_001164835.1|NM_019079.4	NP_001158307.1|NP_061952.3	Q5T7N2	LITD1_HUMAN	LINE-1 type transposase domain containing 1	533										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	35						CACAAAACCCAGGAGGAAGAG	0.463													10	43					0	0	1	0	0	T	62676044	A	T	62676044	3	4	226	1	0	0	0	0	1	0	0	0	8628	188	7	5	1604	5	L1TD1	1	62676044	Missense_Mutation	SNP	A	TCGA-FG-A87Q-01A-11D-A36O-08	18897922	62676044	186574577	3	26210											
PTGFR	5737	broad.mit.edu	37	1	78958825	78958825	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr1:78958825C>T	ENST00000370756.3	+	2	634	c.397C>T	c.(397-399)Cgg>Tgg	p.R133W	PTGFR_ENST00000370758.1_Missense_Mutation_p.R133W|PTGFR_ENST00000370757.3_Missense_Mutation_p.R133W	NM_001039585.1	NP_001034674.1	P43088	PF2R_HUMAN	prostaglandin F receptor (FP)	133					parturition	extracellular region|integral to plasma membrane	prostaglandin F receptor activity			breast(6)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	33				Colorectal(170;0.248)	Bimatoprost(DB00905)|Latanoprost(DB00654)|Travoprost(DB00287)	GGCCATTGAGCGGTGTATTGG	0.403													38	101					0	0	1	0	0	T	78958825	C	T	78958825	3	4	226	1	0	0	0	0	1	0	0	0	12799	759	27	1	399	1	PTGFR	1	78958825	Missense_Mutation	SNP	C	TCGA-FG-A87Q-01A-11D-A36O-08	16282781	78958825	170291796	4	26211											
KCNA10	3744	broad.mit.edu	37	1	111060770	111060770	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr1:111060770C>T	ENST00000369771.2	-	1	1027	c.640G>A	c.(640-642)Gct>Act	p.A214T		NM_005549.2	NP_005540.1	Q16322	KCA10_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 10	214						voltage-gated potassium channel complex	intracellular cyclic nucleotide activated cation channel activity|voltage-gated potassium channel activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(3)|skin(1)|urinary_tract(1)	35		all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134)		GCACGGGCAGCGCTGGAACTT	0.557													18	30					0	0	1	0	0	T	111060770	C	T	111060770	3	4	226	1	0	0	0	0	1	0	0	0	8046	768	27	1	899	1	KCNA10	1	111060770	Missense_Mutation	SNP	C	TCGA-FG-A87Q-01A-11D-A36O-08	32101945	111060770	138189851	5	26212											
FMO5	2330	broad.mit.edu	37	1	146649676	146649676	+	RNA	SNP	C	C	G			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr1:146649676C>G	ENST00000607149.1	+	0	350				RP11-337C18.8_ENST00000606757.1_RNA|RP11-337C18.10_ENST00000606856.1_RNA																							CGGCTGCCCCCACCCCACCTC	0.677													6	7					0	0	1	0	0	G	146649676	C	G	146649676	1	3	226	0	1	0	0	0	0	0	0	0	5991	609	21	5		5	FMO5	1	146649676	RNA	SNP	C	TCGA-FG-A87Q-01A-11D-A36O-08	35588906	146649676	102600945	6	26213											
POGZ	23126	broad.mit.edu	37	1	151377720	151377720	+	Missense_Mutation	SNP	A	A	G			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr1:151377720A>G	ENST00000271715.2	-	19	4105	c.3791T>C	c.(3790-3792)tTa>tCa	p.L1264S	POGZ_ENST00000361398.3_Missense_Mutation_p.L1211S|POGZ_ENST00000409503.1_Missense_Mutation_p.L1255S|POGZ_ENST00000540984.1_Missense_Mutation_p.L626S|POGZ_ENST00000491586.1_Missense_Mutation_p.L1220S|POGZ_ENST00000531094.1_Missense_Mutation_p.L1202S|POGZ_ENST00000392723.1_Missense_Mutation_p.L1211S|POGZ_ENST00000368863.2_Missense_Mutation_p.L1169S	NM_001194937.1|NM_015100.3	NP_001181866.1|NP_055915.2	Q7Z3K3	POGZ_HUMAN	pogo transposable element with ZNF domain	1264	DDE.				cell division|kinetochore assembly|mitotic sister chromatid cohesion|regulation of transcription, DNA-dependent	cytoplasm|nuclear chromatin	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(10)|kidney(3)|large_intestine(10)|liver(2)|lung(11)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	47	Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GCATACATCTAATGGCTGAAT	0.468													53	122					0	0	1	0	0	G	151377720	A	G	151377720	3	3	226	1	0	0	0	0	1	0	0	0	12234	372	13	3	445	3	POGZ	1	151377720	Missense_Mutation	SNP	A	TCGA-FG-A87Q-01A-11D-A36O-08	4728044	151377720	97872901	7	26214											
KCNT2	343450	broad.mit.edu	37	1	196250026	196250026	+	Missense_Mutation	SNP	G	G	C			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr1:196250026G>C	ENST00000367433.5	-	24	2903	c.2802C>G	c.(2800-2802)atC>atG	p.I934M	KCNT2_ENST00000367431.4_Missense_Mutation_p.I884M|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000451324.2_3'UTR|KCNT2_ENST00000609185.1_Missense_Mutation_p.I884M|KCNT2_ENST00000294725.9_Missense_Mutation_p.I958M	NM_198503.2	NP_940905.2	Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	958						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						CAGTCCTGTAGATTCCAATGG	0.353													12	34					0	0	1	0	0	C	196250026	G	C	196250026	3	2	226	1	0	0	0	0	1	0	0	0	8136	932	33	4	549	4	KCNT2	1	196250026	Missense_Mutation	SNP	G	TCGA-FG-A87Q-01A-11D-A36O-08	44872306	196250026	53000595	8	26215											
MRPL35	51318	broad.mit.edu	37	2	86434352	86434352	+	Frame_Shift_Del	DEL	C	C	-			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr2:86434352delC	ENST00000337109.4	+	3	314	c.280delC	c.(280-282)ctafs	p.L94fs	MRPL35_ENST00000254644.8_Frame_Shift_Del_p.L94fs|MRPL35_ENST00000409180.1_Frame_Shift_Del_p.L94fs|MRPL35_ENST00000605125.1_Intron	NM_016622.3	NP_057706.2	Q9NZE8	RM35_HUMAN	mitochondrial ribosomal protein L35	94					translation	mitochondrial ribosome	structural constituent of ribosome			cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(4)|skin(1)|stomach(1)|urinary_tract(2)	14						AGTCAGATCTCTAACATACTT	0.403													11	25	---	---	---	---						-	86434352	C	-	86434352	7	5	226	1	0	1	0	1	0	0	0	0	9847	912	32	0	290	0	MRPL35	2	86434352	Frame_Shift_Del	DEL	C	TCGA-FG-A87Q-01A-11D-A36O-08		86434352	156765021	9	26216											
ARHGEF4	50649	broad.mit.edu	37	2	131704164	131704164	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr2:131704164C>T	ENST00000409359.1	+	4	4149	c.2951C>T	c.(2950-2952)aCg>aTg	p.T984M	ARHGEF4_ENST00000392953.3_Missense_Mutation_p.T128M|ARHGEF4_ENST00000326016.5_Missense_Mutation_p.T128M|ARHGEF4_ENST00000428230.2_Missense_Mutation_p.T128M|ARHGEF4_ENST00000409303.1_Missense_Mutation_p.T128M|ARHGEF4_ENST00000525839.1_Missense_Mutation_p.T128M			Q9NR80	ARHG4_HUMAN	Rho guanine nucleotide exchange factor (GEF) 4	128					apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|lamellipodium assembly|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|ruffle membrane	protein domain specific binding|Rac guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(4)	29		Prostate(154;0.055)		BRCA - Breast invasive adenocarcinoma(221;0.097)		AGTGCTCCAACGGGACTGAAC	0.527													20	64					0	0	1	0	0	T	131704164	C	T	131704164	3	4	226	1	0	0	0	0	1	0	0	0	905	536	19	1	389	1	ARHGEF4	2	131704164	Missense_Mutation	SNP	C	TCGA-FG-A87Q-01A-11D-A36O-08	45269812	131704164	111495209	10	26217											
CCDC148	130940	broad.mit.edu	37	2	159196883	159196883	+	Missense_Mutation	SNP	C	C	G			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr2:159196883C>G	ENST00000283233.5	-	5	670	c.357G>C	c.(355-357)caG>caC	p.Q119H	CCDC148_ENST00000409889.1_Missense_Mutation_p.Q119H|CCDC148_ENST00000409187.1_Missense_Mutation_p.Q128H|CCDC148_ENST00000536771.1_Missense_Mutation_p.Q33H	NM_138803.3	NP_620158.3	Q8NFR7	CC148_HUMAN	coiled-coil domain containing 148	119										endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						GATATGTGCACTGTTGTTCTG	0.343													6	42					0	0	1	0	0	G	159196883	C	G	159196883	3	3	226	1	0	0	0	0	1	0	0	0	2800	564	20	4	1510	4	CCDC148	2	159196883	Missense_Mutation	SNP	C	TCGA-FG-A87Q-01A-11D-A36O-08	27492719	159196883	84002490	11	26218											
TTN	7273	broad.mit.edu	37	2	179431823	179431823	+	Missense_Mutation	SNP	G	G	T			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr2:179431823G>T	ENST00000589042.1	-	326	79260	c.79036C>A	c.(79036-79038)Ctg>Atg	p.L26346M	TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.L17406M|TTN_ENST00000591111.1_Missense_Mutation_p.L24705M|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.L17473M|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.L17281M|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.L23778M|TTN-AS1_ENST00000592600.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	24705	Ig-like 127.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTAACTTTCAGAGAATTGGTC	0.413													38	93					8.73648e-17	9.31891e-17	1	1	0	T	179431823	G	T	179431823	3	4	226	1	0	0	0	0	1	0	0	0	16797	933	33	4	29091	4	TTN	2	179431823	Missense_Mutation	SNP	G	TCGA-FG-A87Q-01A-11D-A36O-08	20234940	179431823	63767550	12	26219											
ANKAR	150709	broad.mit.edu	37	2	190541620	190541620	+	Missense_Mutation	SNP	C	C	G			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr2:190541620C>G	ENST00000520309.1	+	2	492	c.404C>G	c.(403-405)cCt>cGt	p.P135R	ANKAR_ENST00000281412.6_5'UTR|ANKAR_ENST00000438402.2_Missense_Mutation_p.P135R|ANKAR_ENST00000461516.1_Intron|ANKAR_ENST00000313581.4_Missense_Mutation_p.P135R|ANKAR_ENST00000431575.2_Missense_Mutation_p.P64R	NM_144708.3	NP_653309.3	Q7Z5J8	ANKAR_HUMAN	ankyrin and armadillo repeat containing	135						integral to membrane	binding			breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)			TGTCAATTACCTCCAGCTTAT	0.348													24	72					0	0	1	0	0	G	190541620	C	G	190541620	3	3	226	1	0	0	0	0	1	0	0	0	619	681	24	4	406	4	ANKAR	2	190541620	Missense_Mutation	SNP	C	TCGA-FG-A87Q-01A-11D-A36O-08	11109797	190541620	52657753	13	26220											
COL7A1	1294	broad.mit.edu	37	3	48629445	48629445	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr3:48629445C>T	ENST00000328333.8	-	10	1350	c.1243G>A	c.(1243-1245)Gct>Act	p.A415T	COL7A1_ENST00000454817.1_Missense_Mutation_p.A415T	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	415	Fibronectin type-III 3.|Nonhelical region (NC1).				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TCAACAGAAGCGTCTGCCCAG	0.647													26	71					0	0	1	0	0	T	48629445	C	T	48629445	3	4	226	1	0	0	0	0	1	0	0	0	3727	768	27	1	8027	1	COL7A1	3	48629445	Missense_Mutation	SNP	C	TCGA-FG-A87Q-01A-11D-A36O-08		48629445	149392985	14	26221											
GABRR3	200959	broad.mit.edu	37	3	97727875	97727875	+	RNA	DEL	C	C	-	rs78317321		TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr3:97727875delC	ENST00000472788.1	-	0	539					NM_001105580.2	NP_001099050.1	A8MPY1	GBRR3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 3						gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			large_intestine(2)|lung(1)	3						ATGGCCGAAACCGTTATCCTA	0.403													2	4	---	---	---	---						-	97727875	C	-	97727875	6	5	226	0	1	1	0	1	0	0	0	0	6213	507	18	0		0	GABRR3	3	97727875	RNA	DEL	C	TCGA-FG-A87Q-01A-11D-A36O-08	49098430	97727875	100294555	15	26222											
PRR23B	389151	broad.mit.edu	37	3	138738846	138738846	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr3:138738846G>A	ENST00000329447.5	-	1	922	c.658C>T	c.(658-660)Cgc>Tgc	p.R220C	MRPS22_ENST00000495075.1_Intron	NM_001013650.2	NP_001013672.1	Q6ZRT6	PR23B_HUMAN	proline rich 23B	220	Pro-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TCCAGAAGGCGGAATTCCAGG	0.662													7	16					0	0	1	0	0	A	138738846	G	A	138738846	3	1	226	1	0	0	0	0	1	0	0	0	12646	1116	39	1	143	1	PRR23B	3	138738846	Missense_Mutation	SNP	G	TCGA-FG-A87Q-01A-11D-A36O-08	41010971	138738846	59283584	16	26223											
MECOM	2122	broad.mit.edu	37	3	168806963	168806963	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr3:168806963T>C	ENST00000464456.1	-	14	4019	c.2819A>G	c.(2818-2820)gAg>gGg	p.E940G	MECOM_ENST00000264674.3_Missense_Mutation_p.E1014G|MECOM_ENST00000468789.1_Missense_Mutation_p.E949G|MECOM_ENST00000472280.1_Missense_Mutation_p.E950G|MECOM_ENST00000460814.1_Missense_Mutation_p.E940G|MECOM_ENST00000392736.3_Missense_Mutation_p.E949G|MECOM_ENST00000494292.1_Missense_Mutation_p.E1128G|MECOM_ENST00000433243.2_Missense_Mutation_p.E950G	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						ATATTCTTCCTCTTTATACCT	0.303													7	38					0	0	1	0	0	C	168806963	T	C	168806963	3	2	226	1	0	0	0	0	1	0	0	0	9472	1551	54	3	317	3	MECOM	3	168806963	Missense_Mutation	SNP	T	TCGA-FG-A87Q-01A-11D-A36O-08	30068117	168806963	29215467	17	26224											
ECE2	9718	broad.mit.edu	37	3	184003274	184003274	+	Missense_Mutation	SNP	A	A	G			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr3:184003274A>G	ENST00000402825.3	+	10	1511	c.1511A>G	c.(1510-1512)aAc>aGc	p.N504S	ECE2_ENST00000359140.4_Missense_Mutation_p.N357S|EIF2B5_ENST00000444495.1_Intron|ECE2_ENST00000404464.3_Missense_Mutation_p.N386S|ECE2_ENST00000357474.5_Missense_Mutation_p.N432S	NM_014693.3	NP_055508.3	O60344	ECE2_HUMAN	endothelin converting enzyme 2	504	Endothelin-converting enzyme 2 region.				brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing	cytoplasmic vesicle membrane|Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity|methyltransferase activity			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			AGCATCCTGAACAATTACCTG	0.522											OREG0015945	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	23	51					0	0	1	0	0	G	184003274	A	G	184003274	3	3	226	1	0	0	0	0	1	0	0	0	4916	43	2	3	2113	3	ECE2	3	184003274	Missense_Mutation	SNP	A	TCGA-FG-A87Q-01A-11D-A36O-08	15196311	184003274	14019156	18	26225											
CDH9	1007	broad.mit.edu	37	5	26885932	26885932	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr5:26885932C>T	ENST00000231021.4	-	11	1845	c.1673G>A	c.(1672-1674)cGc>cAc	p.R558H		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	558	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						CATTTTGTTGCGACTGTAGCC	0.383													12	41					0	0	1	0	0	T	26885932	C	T	26885932	3	4	226	1	0	0	0	0	1	0	0	0	3139	768	27	1	704	1	CDH9	5	26885932	Missense_Mutation	SNP	C	TCGA-FG-A87Q-01A-11D-A36O-08		26885932	154029328	19	26226											
GPR98	84059	broad.mit.edu	37	5	89949239	89949239	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr5:89949239T>C	ENST00000405460.2	+	20	3944	c.3848T>C	c.(3847-3849)cTg>cCg	p.L1283P		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	1283					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GATGTACAACTGGGCTGGGAA	0.448													12	35					0	0	1	0	0	C	89949239	T	C	89949239	3	2	226	1	0	0	0	0	1	0	0	0	6762	1580	55	3	3926	3	GPR98	5	89949239	Missense_Mutation	SNP	T	TCGA-FG-A87Q-01A-11D-A36O-08	63063307	89949239	90966021	20	26227											
TRPC7	57113	broad.mit.edu	37	5	135693011	135693011	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr5:135693011C>T	ENST00000513104.1	-	2	347	c.65G>A	c.(64-66)cGt>cAt	p.R22H	TRPC7_ENST00000426057.2_Missense_Mutation_p.R22H|TRPC7_ENST00000355180.3_Missense_Mutation_p.R22H	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	22					axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GGCCTGGCGACGGCCCTTCTC	0.597													16	54					0	0	1	0	0	T	135693011	C	T	135693011	3	4	226	1	0	0	0	0	1	0	0	0	16645	536	19	1	2567	1	TRPC7	5	135693011	Missense_Mutation	SNP	C	TCGA-FG-A87Q-01A-11D-A36O-08	45743772	135693011	45222249	21	26228											
GABRP	2568	broad.mit.edu	37	5	170235639	170235639	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr5:170235639C>T	ENST00000518525.1	+	9	1179	c.715C>T	c.(715-717)Cgg>Tgg	p.R239W	GABRP_ENST00000265294.4_Missense_Mutation_p.R239W|GABRP_ENST00000519385.1_Missense_Mutation_p.R239W|GABRP_ENST00000519598.1_Missense_Mutation_p.R239W			O00591	GBRP_HUMAN	gamma-aminobutyric acid (GABA) A receptor, pi	239						cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	p.R239W(1)		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)			GTTTGAGCTTCGGAGGAATGT	0.423													17	31					0	0	1	0	0	T	170235639	C	T	170235639	3	4	226	1	0	0	0	0	1	0	0	0	6209	875	31	1	741	1	GABRP	5	170235639	Missense_Mutation	SNP	C	TCGA-FG-A87Q-01A-11D-A36O-08	34542628	170235639	10679621	22	26229											
GNB2L1	10399	broad.mit.edu	37	5	180669308	180669308	+	Missense_Mutation	SNP	C	C	G			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr5:180669308C>G	ENST00000512805.1	-	2	555	c.147G>C	c.(145-147)gaG>gaC	p.E49D	GNB2L1_ENST00000504726.1_Intron|GNB2L1_ENST00000376817.4_Intron|GNB2L1_ENST00000511566.1_Missense_Mutation_p.E49D|GNB2L1_ENST00000511900.1_Missense_Mutation_p.E49D|GNB2L1_ENST00000456394.2_Missense_Mutation_p.E49D|GNB2L1_ENST00000505461.1_5'UTR	NM_006098.4	NP_006089.1	P63244	GBLP_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 2-like 1	49					apoptosis|cell cycle|gastrulation|interspecies interaction between organisms|negative regulation of cell growth|negative regulation of phagocytosis|negative regulation of translation|negative regulation of Wnt receptor signaling pathway|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of gastrulation|positive regulation of GTPase activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein homooligomerization|positive regulation of protein phosphorylation|regulation of cell cycle|regulation of cell division|regulation of establishment of cell polarity|regulation of protein localization|rhythmic process	cytoskeleton|dendrite|midbody|nucleus|perikaryon|perinuclear region of cytoplasm|phagocytic cup|small ribosomal subunit	ion channel inhibitor activity|protein kinase C binding|protein phosphatase binding|protein tyrosine kinase inhibitor activity|receptor tyrosine kinase binding|SH2 domain binding			lung(3)|skin(2)	5	all_cancers(89;8.79e-06)|all_epithelial(37;1.13e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0654)	all_cancers(40;0.000209)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.101)|all cancers(165;0.11)		CATAGTTGGTCTCATCCCTGG	0.488													4	24					0	0	1	0	0	G	180669308	C	G	180669308	3	3	226	1	0	0	0	0	1	0	0	0	6560	912	32	4	834	4	GNB2L1	5	180669308	Missense_Mutation	SNP	C	TCGA-FG-A87Q-01A-11D-A36O-08	10433669	180669308	245952	23	26230											
PHF1	5252	broad.mit.edu	37	6	33382304	33382304	+	Silent	SNP	T	T	G			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr6:33382304T>G	ENST00000374516.3	+	10	1198	c.927T>G	c.(925-927)ctT>ctG	p.L309L	PHF1_ENST00000374512.3_Silent_p.L309L	NM_024165.2	NP_077084.1	O43189	PHF1_HUMAN	PHD finger protein 1	309					chromatin modification	nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19		Ovarian(999;0.0443)				TCTCTGCTCTTAACAGCCACA	0.547											OREG0017346	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	24	73					0	0	1	0	0	G	33382304	T	G	33382304	2	3	226	1	0	0	0	0	0	0	0	1	11868	1741	61	5		5	PHF1	6	33382304	Silent	SNP	T	TCGA-FG-A87Q-01A-11D-A36O-08		33382304	137732763	24	26231											
ABCC10	89845	broad.mit.edu	37	6	43415637	43415637	+	Silent	SNP	C	C	T	rs144509707		TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr6:43415637C>T	ENST00000244533.3	+	16	4196	c.3837C>T	c.(3835-3837)gaC>gaT	p.D1279D	ABCC10_ENST00000372530.4_Silent_p.D1307D	NM_033450.2	NP_258261.2	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	1307	ABC transporter 2.					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			TGCTGCTGGACGGCGTGGACA	0.632													7	34					0	0	1	0	0	T	43415637	C	T	43415637	2	4	226	1	0	0	0	0	0	0	0	1	50	535	19	1		1	ABCC10	6	43415637	Silent	SNP	C	TCGA-FG-A87Q-01A-11D-A36O-08	10033333	43415637	127699430	25	26232											
ENPP5	59084	broad.mit.edu	37	6	46135348	46135348	+	Missense_Mutation	SNP	G	G	T			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr6:46135348G>T	ENST00000371383.2	-	3	912	c.652C>A	c.(652-654)Ctc>Atc	p.L218I	ENPP5_ENST00000230565.3_Missense_Mutation_p.L218I			Q9UJA9	ENPP5_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 5 (putative)	218						extracellular region|integral to membrane	hydrolase activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	12						ATTTGTATGAGATATCCTAAC	0.443													21	64					4.96729e-08	5.18326e-08	1	1	0	T	46135348	G	T	46135348	3	4	226	1	0	0	0	0	1	0	0	0	5161	942	33	4	793	4	ENPP5	6	46135348	Missense_Mutation	SNP	G	TCGA-FG-A87Q-01A-11D-A36O-08	2719711	46135348	124979719	26	26233											
ECHDC1	55862	broad.mit.edu	37	6	127652088	127652088	+	Missense_Mutation	SNP	G	G	T			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr6:127652088G>T	ENST00000531967.1	-	2	607	c.104C>A	c.(103-105)tCc>tAc	p.S35Y	ECHDC1_ENST00000474289.2_Missense_Mutation_p.S29Y|ECHDC1_ENST00000528402.1_Intron|ECHDC1_ENST00000368289.2_Missense_Mutation_p.S29Y|ECHDC1_ENST00000454591.2_Intron|ECHDC1_ENST00000430841.2_Missense_Mutation_p.S29Y|ECHDC1_ENST00000368291.2_Missense_Mutation_p.S29Y|ECHDC1_ENST00000309620.9_Missense_Mutation_p.S29Y|ECHDC1_ENST00000454859.3_Missense_Mutation_p.S29Y	NM_001139510.1	NP_001132982.1	Q9NTX5	ECHD1_HUMAN	enoyl CoA hydratase domain containing 1	35							catalytic activity			large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	4				GBM - Glioblastoma multiforme(226;0.0423)|all cancers(137;0.156)		AAATCCATGGGATGTACTATA	0.398													20	38					8.10497e-08	8.36642e-08	1	1	0	T	127652088	G	T	127652088	3	4	226	1	0	0	0	0	1	0	0	0	4919	1174	41	5	839	5	ECHDC1	6	127652088	Missense_Mutation	SNP	G	TCGA-FG-A87Q-01A-11D-A36O-08	81516740	127652088	43462979	27	26234											
EGFR	1956	broad.mit.edu	37	7	55221744	55221744	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr7:55221744C>T	ENST00000275493.2	+	7	965	c.788C>T	c.(787-789)aCc>aTc	p.T263I	EGFR_ENST00000344576.2_Missense_Mutation_p.T263I|EGFR_ENST00000342916.3_Missense_Mutation_p.T263I|EGFR_ENST00000420316.2_Missense_Mutation_p.T263I|EGFR_ENST00000455089.1_Missense_Mutation_p.T218I|EGFR_ENST00000442591.1_Missense_Mutation_p.T263I|EGFR_ENST00000454757.2_Missense_Mutation_p.T210I	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	263					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	TGCAAGGACACCTGCCCCCCA	0.582		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			245	370					0	0	1	0	0	T	55221744	C	T	55221744	3	4	226	1	0	0	0	0	1	0	0	0	4993	507	18	2	814	2	EGFR	7	55221744	Missense_Mutation	SNP	C	TCGA-FG-A87Q-01A-11D-A36O-08		55221744	103916919	28	26235											
EGFR	1956	broad.mit.edu	37	7	55249022	55249022	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr7:55249022G>A	ENST00000275493.2	+	20	2497	c.2320G>A	c.(2320-2322)Gtg>Atg	p.V774M	EGFR-AS1_ENST00000442411.1_RNA|EGFR_ENST00000455089.1_Missense_Mutation_p.V729M|EGFR_ENST00000442591.1_Intron|EGFR_ENST00000454757.2_Missense_Mutation_p.V721M	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	774	Protein kinase.				activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.H773_V774insNPH(6)|p.V774M(4)|p.H773_V774insH(2)|p.H773_V774insPH(1)|p.H773_V774insGNPH(1)|p.H773_V774insQ(1)|p.V774L(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	CAACCCCCACGTGTGCCGCCT	0.632		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			93	892					0	0	1	0	0	A	55249022	G	A	55249022	3	1	226	1	0	0	0	0	1	0	0	0	4993	1145	40	1	2662	1	EGFR	7	55249022	Missense_Mutation	SNP	G	TCGA-FG-A87Q-01A-11D-A36O-08	27278	55249022	103889641	29	26236											
RHBDD2	57414	broad.mit.edu	37	7	75511478	75511478	+	Silent	SNP	C	C	T			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr7:75511478C>T	ENST00000318622.4	+	3	716	c.87C>T	c.(85-87)ctC>ctT	p.L29L	RHBDD2_ENST00000428119.1_Silent_p.L29L|RHBDD2_ENST00000006777.6_Silent_p.L170L|RHBDD2_ENST00000468304.1_Intron	NM_001040457.1	NP_001035547.1	Q6NTF9	RHBD2_HUMAN	rhomboid domain containing 2	170						integral to membrane	serine-type endopeptidase activity			kidney(1)|lung(4)|prostate(1)	6						TTCCGTGGCTCCTGCTGGGTG	0.607													12	46					0	0	1	0	0	T	75511478	C	T	75511478	2	4	226	1	0	0	0	0	0	0	0	1	13367	842	30	2		2	RHBDD2	7	75511478	Silent	SNP	C	TCGA-FG-A87Q-01A-11D-A36O-08	20262456	75511478	83627185	30	26237											
HGF	3082	broad.mit.edu	37	7	81381472	81381472	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr7:81381472G>A	ENST00000222390.5	-	5	815	c.589C>T	c.(589-591)Cgc>Tgc	p.R197C	HGF_ENST00000453411.1_Missense_Mutation_p.R192C|HGF_ENST00000444829.2_Missense_Mutation_p.R197C|HGF_ENST00000457544.2_Missense_Mutation_p.R192C|HGF_ENST00000423064.2_Missense_Mutation_p.R197C	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN	hepatocyte growth factor (hepapoietin A; scatter factor)	197	Kringle 1.				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						ACTTCGTAGCGTACCTCTGGA	0.483													3	60					0	0	1	0	0	A	81381472	G	A	81381472	3	1	226	1	0	0	0	0	1	0	0	0	7126	1145	40	1	1673	1	HGF	7	81381472	Missense_Mutation	SNP	G	TCGA-FG-A87Q-01A-11D-A36O-08	5869994	81381472	77757191	31	26238											
CACNA2D1	781	broad.mit.edu	37	7	81600001	81600001	+	Missense_Mutation	SNP	A	A	G			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr7:81600001A>G	ENST00000356860.3	-	27	2532	c.2194T>C	c.(2194-2196)Tat>Cat	p.Y732H	CACNA2D1_ENST00000535308.1_Silent_p.F7F|CACNA2D1_ENST00000356253.5_Missense_Mutation_p.Y744H	NM_000722.2	NP_000713.2	P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	744						voltage-gated calcium channel complex	metal ion binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)	TCTTTGGGATAAACTCTGGTA	0.363													20	58					0	0	1	0	0	G	81600001	A	G	81600001	3	3	226	1	0	0	0	0	1	0	0	0	2566	362	13	3	1133	3	CACNA2D1	7	81600001	Missense_Mutation	SNP	A	TCGA-FG-A87Q-01A-11D-A36O-08	218529	81600001	77538662	32	26239											
NPTX2	4885	broad.mit.edu	37	7	98254436	98254436	+	Silent	SNP	C	C	T			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr7:98254436C>T	ENST00000265634.3	+	3	1011	c.846C>T	c.(844-846)atC>atT	p.I282I		NM_002523.2	NP_002514.1	P47972	NPTX2_HUMAN	neuronal pentraxin II	282	Pentaxin.				synaptic transmission	extracellular region	metal ion binding|sugar binding			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18	all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142)		STAD - Stomach adenocarcinoma(171;0.215)			TCGTGCTGATCGAGTGGGGCA	0.642													10	63					0	0	1	0	0	T	98254436	C	T	98254436	2	4	226	1	0	0	0	0	0	0	0	1	10651	874	31	1		1	NPTX2	7	98254436	Silent	SNP	C	TCGA-FG-A87Q-01A-11D-A36O-08	16654435	98254436	60884227	33	26240											
TBXAS1	6916	broad.mit.edu	37	7	139661796	139661796	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr7:139661796G>A	ENST00000263552.6	+	13	1439	c.901G>A	c.(901-903)Gtc>Atc	p.V301I	TBXAS1_ENST00000425687.1_Missense_Mutation_p.V233I|TBXAS1_ENST00000411653.1_Missense_Mutation_p.V300I|TBXAS1_ENST00000462275.1_3'UTR|TBXAS1_ENST00000448866.1_Missense_Mutation_p.V300I|TBXAS1_ENST00000336425.5_Missense_Mutation_p.V300I|TBXAS1_ENST00000436047.2_Missense_Mutation_p.V301I|TBXAS1_ENST00000414508.2_Missense_Mutation_p.V301I|TBXAS1_ENST00000458722.1_Missense_Mutation_p.V346I|TBXAS1_ENST00000416849.2_Missense_Mutation_p.V347I	NM_001130966.2	NP_001124438	P24557	THAS_HUMAN	thromboxane A synthase 1 (platelet)	300					hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|thromboxane-A synthase activity			breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	28	Melanoma(164;0.0142)					CTTTGACATCGTCAGAGACGT	0.542													8	40					0	0	1	0	0	A	139661796	G	A	139661796	3	1	226	1	0	0	0	0	1	0	0	0	15724	1145	40	1	1077	1	TBXAS1	7	139661796	Missense_Mutation	SNP	G	TCGA-FG-A87Q-01A-11D-A36O-08	41407360	139661796	19476867	34	26241											
KEL	3792	broad.mit.edu	37	7	142651436	142651436	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr7:142651436G>T	ENST00000355265.2	-	8	1233	c.759C>A	c.(757-759)taC>taA	p.Y253*	KEL_ENST00000479768.2_5'UTR	NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	253					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)					GCTGATTCAGGTAAGTCAGGT	0.527													20	80					4.63292e-17	4.99731e-17	1	1	0	T	142651436	G	T	142651436	4	4	226	1	0	0	0	0	0	1	0	0	8185	1256	44	5	1487	5	KEL	7	142651436	Nonsense_Mutation	SNP	G	TCGA-FG-A87Q-01A-11D-A36O-08	2989640	142651436	16487227	35	26242											
CSMD1	64478	broad.mit.edu	37	8	2886955	2886955	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr8:2886955C>T	ENST00000602557.1	-	52	8299	c.7744G>A	c.(7744-7746)Ggt>Agt	p.G2582S	CSMD1_ENST00000537824.1_Missense_Mutation_p.G2581S|CSMD1_ENST00000602723.1_Missense_Mutation_p.G2582S|CSMD1_ENST00000542608.1_Missense_Mutation_p.G2581S|CSMD1_ENST00000400186.3_Missense_Mutation_p.G2582S|CSMD1_ENST00000520002.1_Missense_Mutation_p.G2582S			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2582	Sushi 16.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		ACTTGAGCACCGTACTCATTC	0.537													4	16					0	0	1	0	0	T	2886955	C	T	2886955	3	4	226	1	0	0	0	0	1	0	0	0	3969	652	23	1	3033	1	CSMD1	8	2886955	Missense_Mutation	SNP	C	TCGA-FG-A87Q-01A-11D-A36O-08		2886955	143477067	36	26243											
ADAM7	8756	broad.mit.edu	37	8	24304756	24304756	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr8:24304756C>T	ENST00000175238.6	+	3	297	c.214C>T	c.(214-216)Ctt>Ttt	p.L72F	RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA|ADAM7_ENST00000380789.1_Missense_Mutation_p.L72F|ADAM7_ENST00000441335.2_Missense_Mutation_p.L72F	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN	ADAM metallopeptidase domain 7	72					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		AACCTTAGTCCTTCATCTTCT	0.328													20	76					0	0	1	0	0	T	24304756	C	T	24304756	3	4	226	1	0	0	0	0	1	0	0	0	250	681	24	2	224	2	ADAM7	8	24304756	Missense_Mutation	SNP	C	TCGA-FG-A87Q-01A-11D-A36O-08	21417801	24304756	122059266	37	26244											
EBF2	64641	broad.mit.edu	37	8	25747368	25747368	+	Silent	SNP	C	C	T			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr8:25747368C>T	ENST00000520164.1	-	8	1188	c.651G>A	c.(649-651)acG>acA	p.T217T	EBF2_ENST00000408929.3_Silent_p.T69T	NM_022659.3	NP_073150.2	Q9HAK2	COE2_HUMAN	early B-cell factor 2	217					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)		CCACATTCACCGTTGTTGACA	0.428													20	58					0	0	1	0	0	T	25747368	C	T	25747368	2	4	226	1	0	0	0	0	0	0	0	1	4907	639	23	1		1	EBF2	8	25747368	Silent	SNP	C	TCGA-FG-A87Q-01A-11D-A36O-08	1442612	25747368	120616654	38	26245											
ADAM2	2515	broad.mit.edu	37	8	39624684	39624684	+	Silent	SNP	G	G	A	rs150053966	by1000genomes	TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr8:39624684G>A	ENST00000265708.4	-	13	1402	c.1299C>T	c.(1297-1299)tgC>tgT	p.C433C	ADAM2_ENST00000521880.1_Silent_p.C433C|ADAM2_ENST00000347580.4_Silent_p.C414C|ADAM2_ENST00000379853.2_Silent_p.C307C	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2	433	Disintegrin.				cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		GACAGTTTTCGCAGCATGGTC	0.348													25	63					0	0	1	0	0	A	39624684	G	A	39624684	2	1	226	1	0	0	0	0	0	0	0	1	240	1079	38	1		1	ADAM2	8	39624684	Silent	SNP	G	TCGA-FG-A87Q-01A-11D-A36O-08	13877316	39624684	106739338	39	26246											
C8orf34	116328	broad.mit.edu	37	8	69552632	69552632	+	Missense_Mutation	SNP	T	T	G			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr8:69552632T>G	ENST00000337103.4	+	7	2386	c.794T>G	c.(793-795)aTg>aGg	p.M265R	C8orf34_ENST00000539993.1_Missense_Mutation_p.M290R|C8orf34_ENST00000518698.1_Missense_Mutation_p.M376R|C8orf34_ENST00000325233.3_Missense_Mutation_p.M34R			Q49A92	CH034_HUMAN	chromosome 8 open reading frame 34	290					signal transduction		cAMP-dependent protein kinase regulator activity			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	36			Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)			GATTTAAGAATGGAGGGAGTA	0.398													13	35					0	0	1	0	0	G	69552632	T	G	69552632	3	3	226	1	0	0	0	0	1	0	0	0	2439	1464	51	4	820	4	C8orf34	8	69552632	Missense_Mutation	SNP	T	TCGA-FG-A87Q-01A-11D-A36O-08	29927948	69552632	76811390	40	26247											
RIMS2	9699	broad.mit.edu	37	8	105001535	105001535	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr8:105001535G>A	ENST00000507740.1	+	14	2542	c.2306G>A	c.(2305-2307)cGg>cAg	p.R769Q	RIMS2_ENST00000262231.10_Missense_Mutation_p.R816Q|RIMS2_ENST00000406091.3_Missense_Mutation_p.R977Q|RIMS2_ENST00000436393.2_Missense_Mutation_p.R755Q	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1039					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			TGTTTTAGTCGGAATGTGGAA	0.383										HNSCC(12;0.0054)			15	42					0	0	1	0	0	A	105001535	G	A	105001535	3	1	226	1	0	0	0	0	1	0	0	0	13420	1116	39	1	3122	1	RIMS2	8	105001535	Missense_Mutation	SNP	G	TCGA-FG-A87Q-01A-11D-A36O-08	35448903	105001535	41362487	41	26248											
SCRIB	23513	broad.mit.edu	37	8	144893419	144893419	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr8:144893419C>T	ENST00000356994.2	-	10	1009	c.1003G>A	c.(1003-1005)Gtg>Atg	p.V335M	SCRIB_ENST00000377533.3_Missense_Mutation_p.V254M|SCRIB_ENST00000320476.3_Missense_Mutation_p.V335M	NM_182706.4	NP_874365	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	335	Sufficient for targeting to adherens junction and to inhibit cell proliferation.				activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	cell-cell adherens junction|Scrib-APC-beta-catenin complex	protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			CTGAGTGCCACACAGCCCCCG	0.677													3	8					0	0	1	0	0	T	144893419	C	T	144893419	3	4	226	1	0	0	0	0	1	0	0	0	13991	478	17	2	4076	2	SCRIB	8	144893419	Missense_Mutation	SNP	C	TCGA-FG-A87Q-01A-11D-A36O-08	39891884	144893419	1470603	42	26249											
TMEM215	401498	broad.mit.edu	37	9	32784298	32784298	+	Silent	SNP	C	C	T			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr9:32784298C>T	ENST00000342743.5	+	2	482	c.117C>T	c.(115-117)aaC>aaT	p.N39N		NM_212558.2	NP_997723.2	Q68D42	TM215_HUMAN	transmembrane protein 215	39						integral to membrane				endometrium(4)|kidney(1)|large_intestine(3)|lung(2)|prostate(2)	12						CTTTGGGAAACATCCCCCTCC	0.592													3	40					0	0	1	0	0	T	32784298	C	T	32784298	2	4	226	1	0	0	0	0	0	0	0	1	16198	477	17	2		2	TMEM215	9	32784298	Silent	SNP	C	TCGA-FG-A87Q-01A-11D-A36O-08		32784298	108429133	43	26250											
BAAT	570	broad.mit.edu	37	9	104133578	104133578	+	Missense_Mutation	SNP	C	C	G			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr9:104133578C>G	ENST00000259407.2	-	2	217	c.109G>C	c.(109-111)Gaa>Caa	p.E37Q	BAAT_ENST00000395051.3_Missense_Mutation_p.E37Q	NM_001127610.1|NM_001701.3	NP_001121082.1|NP_001692.1	Q14032	BAAT_HUMAN	bile acid CoA: amino acid N-acyltransferase (glycine N-choloyltransferase)	37					acyl-CoA metabolic process|bile acid and bile salt transport|bile acid biosynthetic process|digestion|fatty acid metabolic process|glycine metabolic process	cytosol|peroxisomal matrix	carboxylesterase activity|glycine N-choloyltransferase activity|N-acyltransferase activity|palmitoyl-CoA hydrolase activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	23		Acute lymphoblastic leukemia(62;0.0559)			Glycine(DB00145)	TTTTCATCTTCCAGTGATGCC	0.478													18	78					0	0	1	0	0	G	104133578	C	G	104133578	3	3	226	1	0	0	0	0	1	0	0	0	1278	864	30	5	1159	5	BAAT	9	104133578	Missense_Mutation	SNP	C	TCGA-FG-A87Q-01A-11D-A36O-08	71349280	104133578	37079853	44	26251											
LRRC8A	56262	broad.mit.edu	37	9	131670897	131670897	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr9:131670897C>T	ENST00000259324.5	+	3	1977	c.1454C>T	c.(1453-1455)gCg>gTg	p.A485V	LRRC8A_ENST00000372599.3_Missense_Mutation_p.A485V|LRRC8A_ENST00000372600.4_Missense_Mutation_p.A485V	NM_001127244.1	NP_001120716.1	Q8IWT6	LRC8A_HUMAN	leucine rich repeat containing 8 family, member A	485					pre-B cell differentiation	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(3)	28						AAGATTGAAGCGCCCGCGCTG	0.612													11	19					0	0	1	0	0	T	131670897	C	T	131670897	3	4	226	1	0	0	0	0	1	0	0	0	9066	768	27	1	1456	1	LRRC8A	9	131670897	Missense_Mutation	SNP	C	TCGA-FG-A87Q-01A-11D-A36O-08	27537319	131670897	9542534	45	26252											
TSSC4	10078	broad.mit.edu	37	11	2424084	2424084	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr11:2424084C>T	ENST00000333256.6	+	3	664	c.221C>T	c.(220-222)cCa>cTa	p.P74L	TSSC4_ENST00000380992.1_Missense_Mutation_p.P10L|TSSC4_ENST00000380996.5_Missense_Mutation_p.P10L|TSSC4_ENST00000451491.2_Missense_Mutation_p.P74L			Q9Y5U2	TSSC4_HUMAN	tumor suppressing subtransferable candidate 4	74										endometrium(3)|large_intestine(1)|lung(4)	8		all_epithelial(84;0.000161)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.0137)|Lung NSC(207;0.209)		BRCA - Breast invasive adenocarcinoma(625;0.00145)|LUSC - Lung squamous cell carcinoma(625;0.19)		GGCCTCCTCCCAGCCACGGTG	0.662													3	5					0	0	1	0	0	T	2424084	C	T	2424084	3	4	226	1	0	0	0	0	1	0	0	0	16728	594	21	2	223	2	TSSC4	11	2424084	Missense_Mutation	SNP	C	TCGA-FG-A87Q-01A-11D-A36O-08		2424084	132582432	46	26253											
TRPM5	29850	broad.mit.edu	37	11	2444189	2444189	+	Silent	SNP	G	G	A			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr11:2444189G>A	ENST00000452833.1	-	1	86	c.78C>T	c.(76-78)ggC>ggT	p.G26G	TRPM5_ENST00000155858.6_Silent_p.G26G|TRPM5_ENST00000533060.1_Silent_p.G26G|TRPM5_ENST00000528453.1_Silent_p.G26G			Q9NZQ8	TRPM5_HUMAN	transient receptor potential cation channel, subfamily M, member 5	26						integral to membrane|plasma membrane	receptor activity|voltage-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(4)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	23		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)		AGTTGACCTCGCCCCTGTGCA	0.657													19	20					0	0	1	0	0	A	2444189	G	A	2444189	2	1	226	1	0	0	0	0	0	0	0	1	16650	1074	38	1		1	TRPM5	11	2444189	Silent	SNP	G	TCGA-FG-A87Q-01A-11D-A36O-08	20105	2444189	132562327	47	26254											
MICAL2	9645	broad.mit.edu	37	11	12281413	12281413	+	Silent	SNP	C	C	T	rs144667365		TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr11:12281413C>T	ENST00000256194.4	+	26	3591	c.3303C>T	c.(3301-3303)gcC>gcT	p.A1101A	MICAL2_ENST00000379612.3_Silent_p.A875A|MICAL2_ENST00000342902.5_Silent_p.A1080A|MICAL2_ENST00000537344.1_Silent_p.A911A|MICAL2_ENST00000527546.1_Silent_p.A911A	NM_001282663.1|NM_014632.2	NP_001269592.1|NP_055447.1	O94851	MICA2_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 2	1101						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		GCGCAGTGGCCGCCATTGGCA	0.592													3	13					0	0	1	0	0	T	12281413	C	T	12281413	2	4	226	1	0	0	0	0	0	0	0	1	9618	639	23	1		1	MICAL2	11	12281413	Silent	SNP	C	TCGA-FG-A87Q-01A-11D-A36O-08	9837224	12281413	122725103	48	26255											
OR5D18	219438	broad.mit.edu	37	11	55587765	55587765	+	Silent	SNP	G	G	A			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr11:55587765G>A	ENST00000333976.4	+	1	680	c.660G>A	c.(658-660)gcG>gcA	p.A220A		NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D, member 18	220					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A220A(1)		NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				CATCTTATGCGTTCATTGTTG	0.483													15	81					0	0	1	0	0	A	55587765	G	A	55587765	2	1	226	1	0	0	0	0	0	0	0	1	11204	1132	40	1		1	OR5D18	11	55587765	Silent	SNP	G	TCGA-FG-A87Q-01A-11D-A36O-08	43306352	55587765	79418751	49	26256											
MS4A4A	51338	broad.mit.edu	37	11	60064762	60064762	+	Silent	SNP	C	C	T			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr11:60064762C>T	ENST00000355131.3	+	4	460	c.237C>T	c.(235-237)tcC>tcT	p.S79S	MS4A4A_ENST00000337908.4_Silent_p.S98S|MS4A4A_ENST00000532114.1_Silent_p.S98S|MS4A4A_ENST00000395016.3_Silent_p.S79S	NM_024021.3	NP_076926.2	Q96JQ5	M4A4A_HUMAN	membrane-spanning 4-domains, subfamily A, member 4A	98						integral to membrane	receptor activity	p.S79S(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(12)|prostate(1)|skin(4)	23						ACCCTATTTCCGTGTATATCG	0.378													10	46					0	0	1	0	0	T	60064762	C	T	60064762	2	4	226	1	0	0	0	0	0	0	0	1	9911	639	23	1		1	MS4A4A	11	60064762	Silent	SNP	C	TCGA-FG-A87Q-01A-11D-A36O-08	4476997	60064762	74941754	50	26257											
NUMA1	4926	broad.mit.edu	37	11	71729545	71729545	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr11:71729545T>C	ENST00000393695.3	-	11	1088	c.757A>G	c.(757-759)Atg>Gtg	p.M253V	RP11-849H4.4_ENST00000502284.1_RNA|NUMA1_ENST00000351960.6_Missense_Mutation_p.M253V|NUMA1_ENST00000358965.6_Missense_Mutation_p.M253V	NM_006185.2	NP_006176.2	Q14980	NUMA1_HUMAN	nuclear mitotic apparatus protein 1	253					G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						TGCTGCATCATGGCTATCTGT	0.562			T	RARA	APL								4	27					0	0	1	0	0	C	71729545	T	C	71729545	3	2	226	1	0	0	0	0	1	0	0	0	10798	1464	51	3	5658	3	NUMA1	11	71729545	Missense_Mutation	SNP	T	TCGA-FG-A87Q-01A-11D-A36O-08	11664783	71729545	63276971	51	26258											
OR6C74	254783	broad.mit.edu	37	12	55641906	55641907	+	Frame_Shift_Ins	INS	-	-	T			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr12:55641906_55641907insT	ENST00000343870.4	+	1	925_926	c.835_836insT	c.(835-837)gttfs	p.V279fs		NM_001005490.1	NP_001005490.1	A6NCV1	O6C74_HUMAN	olfactory receptor, family 6, subfamily C, member 74	279					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|large_intestine(3)|lung(7)|prostate(1)	12						CAGCACTTCTGTTGCCCCCATG	0.371													19	42	---	---	---	---						T	55641907	-	T	55641906	7	5	226	1	0	1	1	0	0	0	0	0	11245	1377	48	0	837	0	OR6C74	12	55641906	Frame_Shift_Ins	INS	-	TCGA-FG-A87Q-01A-11D-A36O-08		55641906	78209989	52	26259											
ACACB	32	broad.mit.edu	37	12	109604740	109604740	+	Missense_Mutation	SNP	C	C	A			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr12:109604740C>A	ENST00000338432.7	+	3	847	c.728C>A	c.(727-729)aCc>aAc	p.T243N	ACACB_ENST00000377854.5_Missense_Mutation_p.T243N|ACACB_ENST00000377848.3_Missense_Mutation_p.T243N			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	243					acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	AGAGACTTTACCGTGGCTTCT	0.587													4	44					0.00909568	0.00919142	1	1	0	A	109604740	C	A	109604740	3	1	226	1	0	0	0	0	1	0	0	0	107	507	18	5	734	5	ACACB	12	109604740	Missense_Mutation	SNP	C	TCGA-FG-A87Q-01A-11D-A36O-08	53962834	109604740	24247155	53	26260											
OR4Q3	441669	broad.mit.edu	37	14	20216301	20216301	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr14:20216301T>C	ENST00000331723.1	+	1	715	c.715T>C	c.(715-717)Tct>Cct	p.S239P		NM_172194.1	NP_751944.1	Q8NH05	OR4Q3_HUMAN	olfactory receptor, family 4, subfamily Q, member 3	239					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CAAGGTCTTCTCTACCTGTGC	0.468													24	51					0	0	1	0	0	C	20216301	T	C	20216301	3	2	226	1	0	0	0	0	1	0	0	0	11129	1551	54	3	717	3	OR4Q3	14	20216301	Missense_Mutation	SNP	T	TCGA-FG-A87Q-01A-11D-A36O-08		20216301	87133239	54	26261											
RTN1	6252	broad.mit.edu	37	14	60194231	60194231	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr14:60194231C>T	ENST00000267484.5	-	3	1506	c.1171G>A	c.(1171-1173)Gga>Aga	p.G391R		NM_021136.2	NP_066959.1	Q16799	RTN1_HUMAN	reticulon 1	391					neuron differentiation	integral to endoplasmic reticulum membrane	signal transducer activity			central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		GTTGGCGGTCCGGACCTGGCC	0.672													4	9					0	0	1	0	0	T	60194231	C	T	60194231	3	4	226	1	0	0	0	0	1	0	0	0	13777	661	23	1	1252	1	RTN1	14	60194231	Missense_Mutation	SNP	C	TCGA-FG-A87Q-01A-11D-A36O-08	39977930	60194231	47155309	55	26262											
AHNAK2	113146	broad.mit.edu	37	14	105419205	105419205	+	Silent	SNP	C	C	T			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr14:105419205C>T	ENST00000333244.5	-	7	2702	c.2583G>A	c.(2581-2583)ccG>ccA	p.P861P	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	861						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CCTCCACCTTCGGCGCAGACA	0.607													82	221					0	0	1	0	0	T	105419205	C	T	105419205	2	4	226	1	0	0	0	0	0	0	0	1	412	871	31	1		1	AHNAK2	14	105419205	Silent	SNP	C	TCGA-FG-A87Q-01A-11D-A36O-08	45224974	105419205	1930335	56	26263											
CASC4	113201	broad.mit.edu	37	15	44705563	44705563	+	Missense_Mutation	SNP	C	C	G			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr15:44705563C>G	ENST00000299957.6	+	10	1569	c.1270C>G	c.(1270-1272)Cct>Gct	p.P424A	CASC4_ENST00000345795.2_Missense_Mutation_p.P368A|RP11-516C1.1_ENST00000558047.1_RNA|CASC4_ENST00000360824.3_3'UTR	NM_138423.3	NP_612432.2	Q6P4E1	CASC4_HUMAN	cancer susceptibility candidate 4	199						integral to membrane				NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(2)	17		all_cancers(109;1.69e-13)|all_epithelial(112;3.94e-11)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.027)		all cancers(107;2.91e-20)|GBM - Glioblastoma multiforme(94;1.57e-06)|COAD - Colon adenocarcinoma(120;0.217)|Colorectal(105;0.237)		TCAAATGGATCCTGCAGACTA	0.318													4	31					0	0	1	0	0	G	44705563	C	G	44705563	3	3	226	1	0	0	0	0	1	0	0	0	2680	855	30	5	1308	5	CASC4	15	44705563	Missense_Mutation	SNP	C	TCGA-FG-A87Q-01A-11D-A36O-08		44705563	57825829	57	26264											
ZNF609	23060	broad.mit.edu	37	15	64970400	64970400	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr15:64970400G>A	ENST00000326648.3	+	5	3616	c.3488G>A	c.(3487-3489)cGg>cAg	p.R1163Q		NM_015042.1	NP_055857.1	O15014	ZN609_HUMAN	zinc finger protein 609	1163						nucleus	zinc ion binding			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						AAGGAGGAGCGGGACCGCAAA	0.527													12	30					0	0	1	0	0	A	64970400	G	A	64970400	3	1	226	1	0	0	0	0	1	0	0	0	18092	1116	39	1	3506	1	ZNF609	15	64970400	Missense_Mutation	SNP	G	TCGA-FG-A87Q-01A-11D-A36O-08	20264837	64970400	37560992	58	26265											
ZSCAN2	54993	broad.mit.edu	37	15	85164512	85164512	+	Silent	SNP	C	C	T			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr15:85164512C>T	ENST00000448803.2	+	3	1378	c.1086C>T	c.(1084-1086)taC>taT	p.Y362Y	ZSCAN2_ENST00000546148.1_Silent_p.Y362Y|ZSCAN2_ENST00000485222.2_Intron|ZSCAN2_ENST00000327179.6_Silent_p.Y361Y|ZSCAN2_ENST00000541040.1_Intron|ZSCAN2_ENST00000358472.3_Silent_p.Y212Y|ZSCAN2_ENST00000538076.1_Intron	NM_181877.3	NP_870992.2	Q7Z7L9	ZSCA2_HUMAN	zinc finger and SCAN domain containing 2	362					cell differentiation|multicellular organismal development|spermatogenesis|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|liver(2)|lung(4)|ovary(1)|pancreas(1)	19				UCEC - Uterine corpus endometrioid carcinoma (272;0.168)|all cancers(203;5.43e-22)		AAAAGCCCTACGAATGTAAAG	0.493													42	96					0	0	1	0	0	T	85164512	C	T	85164512	2	4	226	1	0	0	0	0	0	0	0	1	18272	547	19	1		1	ZSCAN2	15	85164512	Silent	SNP	C	TCGA-FG-A87Q-01A-11D-A36O-08	20194112	85164512	17366880	59	26266											
ABCA3	21	broad.mit.edu	37	16	2376171	2376171	+	Silent	SNP	G	G	A			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr16:2376171G>A	ENST00000301732.5	-	5	859	c.159C>T	c.(157-159)aaC>aaT	p.N53N	ABCA3_ENST00000567910.1_Silent_p.N53N|ABCA3_ENST00000382381.3_Silent_p.N53N	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	53					response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)				AGATGGTGGCGTTGGGCACAT	0.572													10	27					0	0	1	0	0	A	2376171	G	A	2376171	2	1	226	1	0	0	0	0	0	0	0	1	33	1136	40	1		1	ABCA3	16	2376171	Silent	SNP	G	TCGA-FG-A87Q-01A-11D-A36O-08		2376171	87978582	60	26267											
CD19	930	broad.mit.edu	37	16	28944769	28944769	+	Silent	SNP	G	G	A			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr16:28944769G>A	ENST00000538922.1	+	4	836	c.774G>A	c.(772-774)aaG>aaA	p.K258K	CD19_ENST00000324662.3_Silent_p.K258K|CD19_ENST00000567541.1_Silent_p.K258K	NM_001178098.1|NM_001770.5	NP_001171569.1|NP_001761.3	P15391	CD19_HUMAN	CD19 molecule	258	Ig-like C2-type 2.				cellular defense response	external side of plasma membrane|integral to plasma membrane	protein binding|receptor signaling protein activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(4)|urinary_tract(1)	29						ACGCTGGAAAGTATTATTGTC	0.562													13	19					0	0	1	0	0	A	28944769	G	A	28944769	2	1	226	1	0	0	0	0	0	0	0	1	2995	1020	36	2		2	CD19	16	28944769	Silent	SNP	G	TCGA-FG-A87Q-01A-11D-A36O-08	26568598	28944769	61409984	61	26268											
ZNF764	92595	broad.mit.edu	37	16	30567015	30567015	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr16:30567015G>A	ENST00000395091.2	-	3	1039	c.724C>T	c.(724-726)Cgc>Tgc	p.R242C	AC002310.13_ENST00000568114.1_Intron|ZNF764_ENST00000252797.2_Missense_Mutation_p.R243C			Q96H86	ZN764_HUMAN	zinc finger protein 764	243					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7						AGCGCCGAGCGCTGCGTGAAG	0.687													3	4					0	0	1	0	0	A	30567015	G	A	30567015	3	1	226	1	0	0	0	0	1	0	0	0	18188	1087	38	1	503	1	ZNF764	16	30567015	Missense_Mutation	SNP	G	TCGA-FG-A87Q-01A-11D-A36O-08	1622246	30567015	59787738	62	26269											
BAHCC1	57597	broad.mit.edu	37	17	79409603	79409603	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr17:79409603G>A	ENST00000307745.7	+	9	1228	c.1228G>A	c.(1228-1230)Gcc>Acc	p.A410T																								CCCCTTCCAGGCCGCCGAGGC	0.701													3	7					0	0	1	0	0	A	79409603	G	A	79409603	3	1	226	1	0	0	0	0	1	0	0	0	1294	1203	42	2	1077	2	BAHCC1	17	79409603	Missense_Mutation	SNP	G	TCGA-FG-A87Q-01A-11D-A36O-08		79409603	1785607	63	26270											
DSC2	1824	broad.mit.edu	37	18	28662324	28662324	+	Silent	SNP	C	C	T			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr18:28662324C>T	ENST00000280904.6	-	9	1586	c.1143G>A	c.(1141-1143)aaG>aaA	p.K381K	DSC2_ENST00000251081.6_Silent_p.K381K	NM_024422.3	NP_077740.1	Q02487	DSC2_HUMAN	desmocollin 2	381	Cadherin 3.				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			TCACTAAGTCCTTATCCTCAA	0.318													26	73					0	0	1	0	0	T	28662324	C	T	28662324	2	4	226	1	0	0	0	0	0	0	0	1	4792	680	24	2		2	DSC2	18	28662324	Silent	SNP	C	TCGA-FG-A87Q-01A-11D-A36O-08		28662324	49414924	64	26271											
ME2	4200	broad.mit.edu	37	18	48439304	48439304	+	Missense_Mutation	SNP	A	A	C			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr18:48439304A>C	ENST00000321341.5	+	4	648	c.376A>C	c.(376-378)Atc>Ctc	p.I126L	ME2_ENST00000382927.3_Missense_Mutation_p.I126L	NM_002396.4	NP_002387.1	P23368	MAOM_HUMAN	malic enzyme 2, NAD(+)-dependent, mitochondrial	126					malate metabolic process	mitochondrial matrix	electron carrier activity|malate dehydrogenase (decarboxylating) activity|malate dehydrogenase (oxaloacetate-decarboxylating) activity|metal ion binding|NAD binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(3)	23		Colorectal(6;0.0273)|all_epithelial(6;0.118)		Colorectal(21;0.0313)|READ - Rectum adenocarcinoma(32;0.105)|STAD - Stomach adenocarcinoma(97;0.184)	NADH(DB00157)	GTATGGACACATCTTTAGAAG	0.328													25	52					0	0	1	0	0	C	48439304	A	C	48439304	3	2	226	1	0	0	0	0	1	0	0	0	9468	217	8	4	386	4	ME2	18	48439304	Missense_Mutation	SNP	A	TCGA-FG-A87Q-01A-11D-A36O-08	19776980	48439304	29637944	65	26272											
THOP1	7064	broad.mit.edu	37	19	2799775	2799775	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr19:2799775C>T	ENST00000307741.6	+	5	778	c.575C>T	c.(574-576)aCg>aTg	p.T192M	THOP1_ENST00000586677.1_Missense_Mutation_p.T71M	NM_003249.3	NP_003240.1	P52888	THOP1_HUMAN	thimet oligopeptidase 1	192					proteolysis	cytoplasm	metal ion binding|metalloendopeptidase activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(1)|lung(8)|ovary(2)|skin(1)	14				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)		CTGCCCTTCACGCTCCAGGAG	0.612													14	58					0	0	1	0	0	T	2799775	C	T	2799775	3	4	226	1	0	0	0	0	1	0	0	0	15931	536	19	1	593	1	THOP1	19	2799775	Missense_Mutation	SNP	C	TCGA-FG-A87Q-01A-11D-A36O-08		2799775	56329208	66	26273											
ZNF560	147741	broad.mit.edu	37	19	9577519	9577519	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr19:9577519G>A	ENST00000301480.4	-	10	2317	c.2104C>T	c.(2104-2106)Cgc>Tgc	p.R702C		NM_152476.2	NP_689689.2	Q96MR9	ZN560_HUMAN	zinc finger protein 560	702					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						GTTTTTAAGCGATCATGAAAG	0.378													33	103					0	0	1	0	0	A	9577519	G	A	9577519	3	1	226	1	0	0	0	0	1	0	0	0	18048	1058	37	1	272	1	ZNF560	19	9577519	Missense_Mutation	SNP	G	TCGA-FG-A87Q-01A-11D-A36O-08	6777744	9577519	49551464	67	26274											
CD22	933	broad.mit.edu	37	19	35837090	35837090	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr19:35837090G>A	ENST00000544992.2	+	12	2286	c.2245G>A	c.(2245-2247)Gga>Aga	p.G749R	CD22_ENST00000419549.2_Silent_p.P616P|CD22_ENST00000594250.1_Silent_p.P611P|CD22_ENST00000341773.6_Silent_p.P611P|CD22_ENST00000536635.2_Silent_p.P700P|CD22_ENST00000085219.5_Silent_p.P788P|CD22_ENST00000270311.6_Silent_p.P603P			P20273	CD22_HUMAN	CD22 molecule	0					cell adhesion		protein binding|sugar binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		OspA lipoprotein(DB00045)	GACCTCCCCCGGACTGCGATG	0.587													7	19					0	0	1	0	0	A	35837090	G	A	35837090	3	1	226	1	0	0	0	0	1	0	0	0	3007	1117	39	1	2410	1	CD22	19	35837090	Missense_Mutation	SNP	G	TCGA-FG-A87Q-01A-11D-A36O-08	26259571	35837090	23291893	68	26275											
ZNF880	400713	broad.mit.edu	37	19	52877716	52877717	+	Frame_Shift_Ins	INS	-	-	T	rs77187934		TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr19:52877716_52877717insT	ENST00000597976.1	+	3	324_325	c.304_305insT	c.(304-306)attfs	p.I102fs	ZNF880_ENST00000424032.2_Intron|ZNF880_ENST00000600321.1_Intron|ZNF880_ENST00000344085.5_Intron|ZNF880_ENST00000422689.2_Intron			Q6PDB4	ZN880_HUMAN	zinc finger protein 880	0					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1)	10						AGGCCCCATAAttttttttttt	0.475													4	9	---	---	---	---						T	52877717	-	T	52877716	7	5	226	1	0	1	1	0	0	0	0	0	18240	116	4	0		0	ZNF880	19	52877716	Frame_Shift_Ins	INS	-	TCGA-FG-A87Q-01A-11D-A36O-08	17040626	52877716	6251267	69	26276											
ZNF83	55769	broad.mit.edu	37	19	53122295	53122295	+	Silent	SNP	A	A	G	rs11669959	by1000genomes	TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr19:53122295A>G	ENST00000594682.2	-	5	363	c.36T>C	c.(34-36)gaT>gaC	p.D12D	ZNF83_ENST00000598536.1_Intron|ZNF83_ENST00000597161.1_Silent_p.D12D|ZNF83_ENST00000600714.1_Silent_p.D12D|ZNF83_ENST00000301096.3_Intron|ZNF83_ENST00000596930.1_Silent_p.D12D|ZNF83_ENST00000601257.1_Silent_p.D12D|ZNF83_ENST00000545872.1_Intron|ZNF83_ENST00000597597.1_Intron|ZNF83_ENST00000544146.1_5'UTR|ZNF83_ENST00000536937.1_5'UTR	NM_001105552.1|NM_001277945.1|NM_001277946.1|NM_001277948.1	NP_001099022.1|NP_001264874.1|NP_001264875.1|NP_001264877.1	P51522	ZNF83_HUMAN	zinc finger protein 83							nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18				OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244)		CTATGGCCACATCCCTGAATG	0.433													5	173					0	0	1	0	0	G	53122295	A	G	53122295	2	3	226	1	0	0	0	0	0	0	0	1	18230	232	8	3		3	ZNF83	19	53122295	Silent	SNP	A	TCGA-FG-A87Q-01A-11D-A36O-08	244579	53122295	6006688	70	26277											
CST4	1472	broad.mit.edu	37	20	23669406	23669406	+	Silent	SNP	C	C	T			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr20:23669406C>T	ENST00000217423.3	-	1	271	c.201G>A	c.(199-201)ccG>ccA	p.P67P		NM_001899.2	NP_001890.1	P01036	CYTS_HUMAN	cystatin S	67						extracellular region	cysteine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|large_intestine(2)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	16	Lung NSC(19;0.0789)|Colorectal(13;0.0993)|all_lung(19;0.169)					GCACCTGCAGCGGGCGTCTGT	0.597													8	37					0	0	1	0	0	T	23669406	C	T	23669406	2	4	226	1	0	0	0	0	0	0	0	1	3999	755	27	1		1	CST4	20	23669406	Silent	SNP	C	TCGA-FG-A87Q-01A-11D-A36O-08		23669406	39356114	71	26278											
CABLES2	81928	broad.mit.edu	37	20	60966137	60966137	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr20:60966137G>A	ENST00000279101.5	-	10	1335	c.1327C>T	c.(1327-1329)Cgc>Tgc	p.R443C		NM_031215.2	NP_112492.2	Q9BTV7	CABL2_HUMAN	Cdk5 and Abl enzyme substrate 2	443					cell cycle|cell division|regulation of cell cycle|regulation of cell division		cyclin-dependent protein kinase regulator activity			endometrium(2)|kidney(1)|lung(6)|pancreas(1)|skin(1)	11	Breast(26;2.05e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			ATCAGGTCGCGCCTGTTGAAT	0.557													13	34					0	0	1	0	0	A	60966137	G	A	60966137	3	1	226	1	0	0	0	0	1	0	0	0	2548	1087	38	1	113	1	CABLES2	20	60966137	Missense_Mutation	SNP	G	TCGA-FG-A87Q-01A-11D-A36O-08	37296731	60966137	2059383	72	26279											
NOL12	79159	broad.mit.edu	37	22	38082445	38082445	+	Frame_Shift_Del	DEL	C	C	-			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr22:38082445delC	ENST00000359114.4	+	1	116	c.46delC	c.(46-48)ccgfs	p.P16fs	NOL12_ENST00000493862.1_Intron	NM_024313.2	NP_077289.1	Q9UGY1	NOL12_HUMAN	nucleolar protein 12	16						nucleolus	rRNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)	8	Melanoma(58;0.0574)					CGACCGGCGGCCGAGGCTCGT	0.627													2	4	---	---	---	---						-	38082445	C	-	38082445	7	5	226	1	0	1	0	1	0	0	0	0	10569	739	26	0	48	0	NOL12	22	38082445	Frame_Shift_Del	DEL	C	TCGA-FG-A87Q-01A-11D-A36O-08		38082445	13222121	73	26280											
CELSR1	9620	broad.mit.edu	37	22	46859990	46859990	+	Missense_Mutation	SNP	A	A	G			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr22:46859990A>G	ENST00000262738.3	-	2	3796	c.3797T>C	c.(3796-3798)cTg>cCg	p.L1266P	CELSR1_ENST00000395964.1_Missense_Mutation_p.L1266P	NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	1266					central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		GCCGCCAGGCAGCAGCGCCGA	0.632													16	48					0	0	1	0	0	G	46859990	A	G	46859990	3	3	226	1	0	0	0	0	1	0	0	0	3243	188	7	3	5383	3	CELSR1	22	46859990	Missense_Mutation	SNP	A	TCGA-FG-A87Q-01A-11D-A36O-08	8777545	46859990	4444576	74	26281											
ASB9	140462	broad.mit.edu	37	X	15287957	15287957	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chrX:15287957C>T	ENST00000546332.1	-	2	523	c.40G>A	c.(40-42)Gcg>Acg	p.A14T	ASB9_ENST00000380483.3_Missense_Mutation_p.A14T|ASB9_ENST00000380485.3_Missense_Mutation_p.A14T|ASB9_ENST00000380488.4_Missense_Mutation_p.A14T|ASB9_ENST00000473862.1_5'UTR	NM_001168531.1	NP_001162003.1	Q96DX5	ASB9_HUMAN	ankyrin repeat and SOCS box containing 9	14					intracellular signal transduction					breast(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(10)	15	Hepatocellular(33;0.183)					CTTGGCCCCGCGGGCTTGCTC	0.562													4	25					0	0	1	0	0	T	15287957	C	T	15287957	3	4	226	1	0	0	0	0	1	0	0	0	1029	768	27	1	901	1	ASB9	23	15287957	Missense_Mutation	SNP	C	TCGA-FG-A87Q-01A-11D-A36O-08		15287957	139982603	75	26282											
RPS6KA3	6197	broad.mit.edu	37	X	20227405	20227405	+	Splice_Site	SNP	C	C	A			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chrX:20227405C>A	ENST00000379565.3	-	3	451		c.e3+1		RPS6KA3_ENST00000544447.1_Splice_Site|RPS6KA3_ENST00000379548.4_Splice_Site|RPS6KA3_ENST00000540702.1_Splice_Site	NM_004586.2	NP_004577.1	P51812	KS6A3_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 3						axon guidance|central nervous system development|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|skeletal system development|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|caspase inhibitor activity|magnesium ion binding|protein serine/threonine kinase activity			breast(4)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(14)|lung(7)|ovary(1)|stomach(1)	41						TCATGACTTACCTTTCCAAAT	0.338													39	97					3.61848e-18	3.94743e-18	1	1	0	A	20227405	C	A	20227405	5	1	226	1	0	0	0	0	0	0	1	0	13704	521	18	5	2058	5	RPS6KA3	23	20227405	Splice_Site	SNP	C	TCGA-FG-A87Q-01A-11D-A36O-08	4939448	20227405	135043155	76	26283											
PTCHD1	139411	broad.mit.edu	37	X	23397847	23397847	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chrX:23397847G>A	ENST00000379361.4	+	2	1351	c.491G>A	c.(490-492)cGg>cAg	p.R164Q		NM_173495.2	NP_775766.2	Q96NR3	PTHD1_HUMAN	patched domain containing 1	164					cognition|smoothened signaling pathway	integral to membrane|plasma membrane	hedgehog receptor activity			NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2)	42						AAGAATGCTCGGGCCACCAAT	0.473													17	66					0	0	1	0	0	A	23397847	G	A	23397847	3	1	226	1	0	0	0	0	1	0	0	0	12781	1116	39	1	497	1	PTCHD1	23	23397847	Missense_Mutation	SNP	G	TCGA-FG-A87Q-01A-11D-A36O-08	3170442	23397847	131872713	77	26284											
CCNB3	85417	broad.mit.edu	37	X	50054451	50054451	+	Silent	SNP	T	T	A			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chrX:50054451T>A	ENST00000376042.1	+	6	3580	c.3282T>A	c.(3280-3282)gcT>gcA	p.A1094A	CCNB3_ENST00000376038.1_Intron|CCNB3_ENST00000348603.2_Intron|CCNB3_ENST00000276014.7_Silent_p.A1094A			Q8WWL7	CCNB3_HUMAN	cyclin B3	1094					cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding			breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					GTGAATCTGCTTCTGATAAAC	0.478													8	36					0	0	1	0	0	A	50054451	T	A	50054451	2	1	226	1	0	0	0	0	0	0	0	1	2936	1596	56	5		5	CCNB3	23	50054451	Silent	SNP	T	TCGA-FG-A87Q-01A-11D-A36O-08	26656604	50054451	105216109	78	26285											
ZCCHC5	203430	broad.mit.edu	37	X	77913359	77913359	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chrX:77913359G>A	ENST00000321110.1	-	2	854	c.559C>T	c.(559-561)Cct>Tct	p.P187S		NM_152694.2	NP_689907.1	Q8N8U3	ZCHC5_HUMAN	zinc finger, CCHC domain containing 5	187	Pro-rich.						nucleic acid binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1)	37						TCCTGGGGAGGTGGAAGCTCA	0.537													8	42					0	0	1	0	0	A	77913359	G	A	77913359	3	1	226	1	0	0	0	0	1	0	0	0	17649	1261	44	2	872	2	ZCCHC5	23	77913359	Missense_Mutation	SNP	G	TCGA-FG-A87Q-01A-11D-A36O-08	27858908	77913359	77357201	79	26286											
CHM	1121	broad.mit.edu	37	X	85119689	85119689	+	Silent	SNP	C	C	T			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chrX:85119689C>T	ENST00000357749.2	-	15	1937	c.1908G>A	c.(1906-1908)tcG>tcA	p.S636S	CHM_ENST00000537751.1_Silent_p.S488S|CHM_ENST00000467744.2_Intron	NM_000390.2	NP_000381.1	P24386	RAE1_HUMAN	choroideremia (Rab escort protein 1)	636					intracellular protein transport|protein geranylgeranylation|response to stimulus|visual perception	Rab-protein geranylgeranyltransferase complex	GTPase activator activity|Rab geranylgeranyltransferase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|prostate(1)	20		all_lung(315;5.41e-06)				TGAAAGTCTCCGAGTTAGCCT	0.453													4	16					0	0	1	0	0	T	85119689	C	T	85119689	2	4	226	1	0	0	0	0	0	0	0	1	3372	639	23	1		1	CHM	23	85119689	Silent	SNP	C	TCGA-FG-A87Q-01A-11D-A36O-08	7206330	85119689	70150871	80	26287											
HTR2C	3358	broad.mit.edu	37	X	114082601	114082601	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chrX:114082601G>A	ENST00000276198.1	+	5	1113	c.385G>A	c.(385-387)Gtc>Atc	p.V129I	HTR2C_ENST00000371950.3_Missense_Mutation_p.V129I|HTR2C_ENST00000371951.1_Missense_Mutation_p.V129I	NM_000868.2	NP_000859.1	P28335	5HT2C_HUMAN	5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled	129					cGMP biosynthetic process|ERK1 and ERK2 cascade|feeding behavior|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	cytoplasm|integral to membrane|nucleus|plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|protein binding|serotonin binding|serotonin receptor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50					Chlorprothixene(DB01239)|Clozapine(DB00363)|Dexfenfluramine(DB01191)|Fenfluramine(DB00574)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Tramadol(DB00193)|Ziprasidone(DB00246)	TTTGTGCCCCGTCTGGATTTC	0.408													35	92					0	0	1	0	0	A	114082601	G	A	114082601	3	1	226	1	0	0	0	0	1	0	0	0	7487	1145	40	1	395	1	HTR2C	23	114082601	Missense_Mutation	SNP	G	TCGA-FG-A87Q-01A-11D-A36O-08	28962912	114082601	41187959	81	26288											
ATP1B4	23439	broad.mit.edu	37	X	119500506	119500506	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chrX:119500506G>A	ENST00000218008.3	+	2	247	c.190G>A	c.(190-192)Gaa>Aaa	p.E64K	ATP1B4_ENST00000539306.1_Missense_Mutation_p.E64K|ATP1B4_ENST00000361319.3_Missense_Mutation_p.E64K	NM_001142447.2	NP_001135919.1	Q9UN42	AT1B4_HUMAN	ATPase, Na+/K+ transporting, beta 4 polypeptide	64	Glu-rich.				ATP biosynthetic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to plasma membrane|nuclear inner membrane	sodium:potassium-exchanging ATPase activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	33						agaagaggaggaagaggagga	0.527													15	28					0	0	1	0	0	A	119500506	G	A	119500506	3	1	226	1	0	0	0	0	1	0	0	0	1134	1175	41	2	196	2	ATP1B4	23	119500506	Missense_Mutation	SNP	G	TCGA-FG-A87Q-01A-11D-A36O-08	5417905	119500506	35770054	82	26289											
CD46	4179	broad.mit.edu	37	1	207930382	207930382	+	Missense_Mutation	SNP	T	T	C			TCGA-FN-7833-01A-11D-2086-08	TCGA-FN-7833-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b92a3aa1-9c8f-428d-bee4-7e91682da52a	39f82bc3-4c0e-4247-a89e-a5eea762150a	g.chr1:207930382T>C	ENST00000358170.2	+	2	277	c.121T>C	c.(121-123)Ttt>Ctt	p.F41L	CD46_ENST00000322918.5_Missense_Mutation_p.F41L|CD46_ENST00000367047.1_Intron|CD46_ENST00000361067.1_Missense_Mutation_p.F41L|CD46_ENST00000367042.1_Missense_Mutation_p.F41L|CD46_ENST00000441839.2_Missense_Mutation_p.F41L|CD46_ENST00000469535.1_3'UTR|CD46_ENST00000322875.4_Missense_Mutation_p.F41L|CD46_ENST00000480003.1_Missense_Mutation_p.F41L|CD46_ENST00000354848.1_Missense_Mutation_p.F41L|CD46_ENST00000357714.1_Missense_Mutation_p.F41L|CD46_ENST00000367041.1_Missense_Mutation_p.F41L|CD46_ENST00000360212.2_Missense_Mutation_p.F41L	NM_002389.4	NP_002380.3	P15529	MCP_HUMAN	CD46 molecule, complement regulatory protein	41	Sushi 1.				complement activation, classical pathway|innate immune response|interspecies interaction between organisms|single fertilization	inner acrosomal membrane|integral to plasma membrane	protein binding|receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	19						GCCACCAACATTTGAAGCTAT	0.413													28	39					0	0	1	0	0	C	207930382	T	C	207930382	3	2	227	1	0	0	0	0	1	0	0	0	3040	1493	52	3	127	3	CD46	1	207930382	Missense_Mutation	SNP	T	TCGA-FN-7833-01A-11D-2086-08		207930382	41320239	1	26290											
COL5A2	1290	broad.mit.edu	37	2	189927953	189927953	+	Missense_Mutation	SNP	A	A	G			TCGA-FN-7833-01A-11D-2086-08	TCGA-FN-7833-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b92a3aa1-9c8f-428d-bee4-7e91682da52a	39f82bc3-4c0e-4247-a89e-a5eea762150a	g.chr2:189927953A>G	ENST00000374866.3	-	27	2088	c.1814T>C	c.(1813-1815)aTa>aCa	p.I605T		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	605					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			TCTGATTCCTATGGAGCCTGG	0.512													48	75					0	0	1	0	0	G	189927953	A	G	189927953	3	3	227	1	0	0	0	0	1	0	0	0	3720	449	16	3	2797	3	COL5A2	2	189927953	Missense_Mutation	SNP	A	TCGA-FN-7833-01A-11D-2086-08		189927953	53271420	2	26291											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-FN-7833-01A-11D-2086-08	TCGA-FN-7833-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b92a3aa1-9c8f-428d-bee4-7e91682da52a	39f82bc3-4c0e-4247-a89e-a5eea762150a	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	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								34	63					0	0	1	0	0	T	209113112	C	T	209113112	3	4	227	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-FN-7833-01A-11D-2086-08	19185159	209113112	34086261	3	26292											
IRS1	3667	broad.mit.edu	37	2	227662186	227662186	+	Silent	SNP	G	G	A			TCGA-FN-7833-01A-11D-2086-08	TCGA-FN-7833-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b92a3aa1-9c8f-428d-bee4-7e91682da52a	39f82bc3-4c0e-4247-a89e-a5eea762150a	g.chr2:227662186G>A	ENST00000305123.5	-	1	2289	c.1269C>T	c.(1267-1269)ggC>ggT	p.G423G		NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1		Ser-rich.				fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		AGATGAAACCGCCATCGCTGG	0.607											OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	148					0	0	1	0	0	A	227662186	G	A	227662186	2	1	227	1	0	0	0	0	0	0	0	1	7884	1074	38	1		1	IRS1	2	227662186	Silent	SNP	G	TCGA-FN-7833-01A-11D-2086-08	18549074	227662186	15537187	4	26293											
RAD54L2	23132	broad.mit.edu	37	3	51624506	51624508	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-FN-7833-01A-11D-2086-08	TCGA-FN-7833-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b92a3aa1-9c8f-428d-bee4-7e91682da52a	39f82bc3-4c0e-4247-a89e-a5eea762150a	g.chr3:51624506_51624508delGAG	ENST00000409535.2	+	2	195_197	c.70_72delGAG	c.(70-72)gagdel	p.E30del		NM_015106.2	NP_055921.2	Q9Y4B4	ARIP4_HUMAN	RAD54-like 2 (S. cerevisiae)							nucleus	ATP binding|DNA binding|helicase activity			NS(2)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|liver(2)|lung(9)|ovary(4)|skin(2)	31				BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896)		ggatgcggaagaggaggaggagg	0.586													2	4	---	---	---	---						-	51624508	GAG	-	51624506	7	5	227	1	0	1	0	1	0	0	0	0	13046	943	33	0	72	0	RAD54L2	3	51624506	In_Frame_Del	DEL	GAG	TCGA-FN-7833-01A-11D-2086-08		51624506	146397924	5	26294											
NIPBL	25836	broad.mit.edu	37	5	37044565	37044565	+	Frame_Shift_Del	DEL	G	G	-			TCGA-FN-7833-01A-11D-2086-08	TCGA-FN-7833-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b92a3aa1-9c8f-428d-bee4-7e91682da52a	39f82bc3-4c0e-4247-a89e-a5eea762150a	g.chr5:37044565delG	ENST00000282516.8	+	35	6724	c.6225delG	c.(6223-6225)aagfs	p.K2075fs	NIPBL_ENST00000448238.2_Frame_Shift_Del_p.K2075fs	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	2075					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			ATCTAATGAAGCTCATCATCA	0.328													48	68	---	---	---	---						-	37044565	G	-	37044565	7	5	227	1	0	1	0	1	0	0	0	0	10475	962	34	0	6359	0	NIPBL	5	37044565	Frame_Shift_Del	DEL	G	TCGA-FN-7833-01A-11D-2086-08		37044565	143870695	6	26295											
BTN2A1	11120	broad.mit.edu	37	6	26458908	26458908	+	Missense_Mutation	SNP	T	T	C			TCGA-FN-7833-01A-11D-2086-08	TCGA-FN-7833-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b92a3aa1-9c8f-428d-bee4-7e91682da52a	39f82bc3-4c0e-4247-a89e-a5eea762150a	g.chr6:26458908T>C	ENST00000429381.1	+	2	256	c.44T>C	c.(43-45)cTc>cCc	p.L15P	BTN2A1_ENST00000312541.5_Missense_Mutation_p.L15P|BTN2A1_ENST00000541522.1_Intron|BTN2A1_ENST00000469185.1_Missense_Mutation_p.L15P			Q7KYR7	BT2A1_HUMAN	butyrophilin, subfamily 2, member A1	15					lipid metabolic process	integral to plasma membrane				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(3)	27						CCAGCCTCCCTCCTCCTCCTC	0.582													5	183					0	0	1	0	0	C	26458908	T	C	26458908	3	2	227	1	0	0	0	0	1	0	0	0	1563	1551	54	3	46	3	BTN2A1	6	26458908	Missense_Mutation	SNP	T	TCGA-FN-7833-01A-11D-2086-08		26458908	144656159	7	26296											
PRDM1	639	broad.mit.edu	37	6	106553131	106553131	+	Missense_Mutation	SNP	G	G	T			TCGA-FN-7833-01A-11D-2086-08	TCGA-FN-7833-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b92a3aa1-9c8f-428d-bee4-7e91682da52a	39f82bc3-4c0e-4247-a89e-a5eea762150a	g.chr6:106553131G>T	ENST00000369096.4	+	5	1330	c.1096G>T	c.(1096-1098)Ggc>Tgc	p.G366C	PRDM1_ENST00000369089.3_Missense_Mutation_p.G232C|PRDM1_ENST00000369091.2_Missense_Mutation_p.G330C	NM_001198.3	NP_001189.2	O75626	PRDM1_HUMAN	PR domain containing 1, with ZNF domain	366					negative regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(59)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(5)|urinary_tract(2)	94	Breast(9;0.022)	all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365)		all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05)		TGTGGGCCCCGGCTCTCAAGA	0.647			"D, N, Mis, F, S"		DLBCL								3	56					1	1	1	1	0	T	106553131	G	T	106553131	3	4	227	1	0	0	0	0	1	0	0	0	12502	1116	39	5	1127	5	PRDM1	6	106553131	Missense_Mutation	SNP	G	TCGA-FN-7833-01A-11D-2086-08	80094223	106553131	64561936	8	26297											
KPNA5	3841	broad.mit.edu	37	6	117019898	117019898	+	Missense_Mutation	SNP	G	G	C			TCGA-FN-7833-01A-11D-2086-08	TCGA-FN-7833-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b92a3aa1-9c8f-428d-bee4-7e91682da52a	39f82bc3-4c0e-4247-a89e-a5eea762150a	g.chr6:117019898G>C	ENST00000368564.1	+	5	520	c.372G>C	c.(370-372)caG>caC	p.Q124H	KPNA5_ENST00000356348.1_Missense_Mutation_p.Q124H			O15131	IMA5_HUMAN	karyopherin alpha 5 (importin alpha 6)	121					NLS-bearing substrate import into nucleus	cytoplasm|nuclear pore	protein binding|protein transporter activity			breast(6)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0298)|all cancers(137;0.0461)|OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.212)		AAGTTATACAGAAACCAGGAG	0.299													4	19					0	0	1	0	0	C	117019898	G	C	117019898	3	2	227	1	0	0	0	0	1	0	0	0	8476	933	33	4	390	4	KPNA5	6	117019898	Missense_Mutation	SNP	G	TCGA-FN-7833-01A-11D-2086-08	10466767	117019898	54095169	9	26298											
ABCA13	154664	broad.mit.edu	37	7	48390284	48390284	+	Missense_Mutation	SNP	T	T	C			TCGA-FN-7833-01A-11D-2086-08	TCGA-FN-7833-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b92a3aa1-9c8f-428d-bee4-7e91682da52a	39f82bc3-4c0e-4247-a89e-a5eea762150a	g.chr7:48390284T>C	ENST00000435803.1	+	30	10273	c.10249T>C	c.(10249-10251)Ttc>Ctc	p.F3417L		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	3417					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						CGCTGGACGCTTCCGTTTCTT	0.522													42	70					0	0	1	0	0	C	48390284	T	C	48390284	3	2	227	1	0	0	0	0	1	0	0	0	31	1609	56	3	10196	3	ABCA13	7	48390284	Missense_Mutation	SNP	T	TCGA-FN-7833-01A-11D-2086-08		48390284	110748379	10	26299											
TRPV5	56302	broad.mit.edu	37	7	142630466	142630466	+	Missense_Mutation	SNP	G	G	T			TCGA-FN-7833-01A-11D-2086-08	TCGA-FN-7833-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b92a3aa1-9c8f-428d-bee4-7e91682da52a	39f82bc3-4c0e-4247-a89e-a5eea762150a	g.chr7:142630466G>T	ENST00000265310.1	-	1	439	c.91C>A	c.(91-93)Cag>Aag	p.Q31K	TRPV5_ENST00000442623.1_Missense_Mutation_p.Q31K	NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	31					protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity	p.Q31K(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					TCCAGGTGCTGGTCCCAGTCT	0.567													4	97					1.23904e-05	1.32754e-05	1	1	0	T	142630466	G	T	142630466	3	4	227	1	0	0	0	0	1	0	0	0	16660	1357	47	5	2158	5	TRPV5	7	142630466	Missense_Mutation	SNP	G	TCGA-FN-7833-01A-11D-2086-08	94240182	142630466	16508197	11	26300											
ZC3H3	23144	broad.mit.edu	37	8	144620440	144620440	+	Missense_Mutation	SNP	G	G	A			TCGA-FN-7833-01A-11D-2086-08	TCGA-FN-7833-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b92a3aa1-9c8f-428d-bee4-7e91682da52a	39f82bc3-4c0e-4247-a89e-a5eea762150a	g.chr8:144620440G>A	ENST00000262577.5	-	2	1128	c.1097C>T	c.(1096-1098)aCg>aTg	p.T366M		NM_015117.2	NP_055932.2	Q8IXZ2	ZC3H3_HUMAN	zinc finger CCCH-type containing 3	366					mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus	nucleus	nucleic acid binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)			CTTGGAGGACGTGGCTGGCTT	0.627													4	130					0	0	1	0	0	A	144620440	G	A	144620440	3	1	227	1	0	0	0	0	1	0	0	0	17628	1145	40	1	1793	1	ZC3H3	8	144620440	Missense_Mutation	SNP	G	TCGA-FN-7833-01A-11D-2086-08		144620440	1743582	12	26301											
DOCK8	81704	broad.mit.edu	37	9	371468	371468	+	Missense_Mutation	SNP	G	G	A			TCGA-FN-7833-01A-11D-2086-08	TCGA-FN-7833-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b92a3aa1-9c8f-428d-bee4-7e91682da52a	39f82bc3-4c0e-4247-a89e-a5eea762150a	g.chr9:371468G>A	ENST00000432829.2	+	17	2021	c.1705G>A	c.(1705-1707)Gct>Act	p.A569T	DOCK8_ENST00000382331.1_Intron|DOCK8_ENST00000453981.1_Missense_Mutation_p.A637T|DOCK8_ENST00000469391.1_Missense_Mutation_p.A569T|DOCK8_ENST00000382329.1_Missense_Mutation_p.A104T	NM_203447.3	NP_982272.2	Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	637	DHR-1.				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		TAAGCTCCCCGCTAAGCTCAC	0.418													51	67					0	0	1	0	0	A	371468	G	A	371468	3	1	227	1	0	0	0	0	1	0	0	0	4720	1087	38	1	1975	1	DOCK8	9	371468	Missense_Mutation	SNP	G	TCGA-FN-7833-01A-11D-2086-08		371468	140841963	13	26302											
MBL2	4153	broad.mit.edu	37	10	54527961	54527961	+	Frame_Shift_Del	DEL	T	T	-			TCGA-FN-7833-01A-11D-2086-08	TCGA-FN-7833-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b92a3aa1-9c8f-428d-bee4-7e91682da52a	39f82bc3-4c0e-4247-a89e-a5eea762150a	g.chr10:54527961delT	ENST00000373968.3	-	4	747	c.683delA	c.(682-684)aatfs	p.N228fs		NM_000242.2	NP_000233.1	P11226	MBL2_HUMAN	mannose-binding lectin (protein C) 2, soluble	228	C-type lectin.				acute-phase response|complement activation, classical pathway|complement activation, lectin pathway|defense response to Gram-positive bacterium|negative regulation of growth of symbiont in host|opsonization|response to oxidative stress	collagen|extracellular space	bacterial cell surface binding|calcium-dependent protein binding|eukaryotic cell surface binding|mannose binding|receptor binding			breast(1)|endometrium(2)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21						CCACTGGCCATTTTTCAGTAG	0.483													7	579	---	---	---	---						-	54527961	T	-	54527961	7	5	227	1	0	1	0	1	0	0	0	0	9400	1493	52	0	67	0	MBL2	10	54527961	Frame_Shift_Del	DEL	T	TCGA-FN-7833-01A-11D-2086-08		54527961	81006786	14	26303											
OR51F2	119694	broad.mit.edu	37	11	4842846	4842846	+	Silent	SNP	C	C	T			TCGA-FN-7833-01A-11D-2086-08	TCGA-FN-7833-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b92a3aa1-9c8f-428d-bee4-7e91682da52a	39f82bc3-4c0e-4247-a89e-a5eea762150a	g.chr11:4842846C>T	ENST00000322110.5	+	1	296	c.231C>T	c.(229-231)ctC>ctT	p.L77L	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001004753.1	NP_001004753.1	Q8NH61	O51F2_HUMAN	olfactory receptor, family 51, subfamily F, member 2	77					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		ACTATTTCCTCTCTATGCTTT	0.458													35	159					0	0	1	0	0	T	4842846	C	T	4842846	2	4	227	1	0	0	0	0	0	0	0	1	11145	900	32	2		2	OR51F2	11	4842846	Silent	SNP	C	TCGA-FN-7833-01A-11D-2086-08		4842846	130163670	15	26304											
EXPH5	23086	broad.mit.edu	37	11	108383673	108383673	+	Missense_Mutation	SNP	G	G	A			TCGA-FN-7833-01A-11D-2086-08	TCGA-FN-7833-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b92a3aa1-9c8f-428d-bee4-7e91682da52a	39f82bc3-4c0e-4247-a89e-a5eea762150a	g.chr11:108383673G>A	ENST00000265843.4	-	6	2671	c.2561C>T	c.(2560-2562)aCt>aTt	p.T854I	EXPH5_ENST00000525344.1_Missense_Mutation_p.T847I|EXPH5_ENST00000443411.1_Missense_Mutation_p.T666I|EXPH5_ENST00000428840.1_Missense_Mutation_p.T778I	NM_015065.2	NP_055880	Q149M6	Q149M6_HUMAN	exophilin 5	854					intracellular protein transport		Rab GTPase binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		TTGAGTATCAGTCAGTGCAGA	0.403													41	120					0	0	1	0	0	A	108383673	G	A	108383673	3	1	227	1	0	0	0	0	1	0	0	0	5350	1029	36	2	3412	2	EXPH5	11	108383673	Missense_Mutation	SNP	G	TCGA-FN-7833-01A-11D-2086-08	103540827	108383673	26622843	16	26305											
CCDC60	160777	broad.mit.edu	37	12	119909950	119909950	+	Missense_Mutation	SNP	T	T	C			TCGA-FN-7833-01A-11D-2086-08	TCGA-FN-7833-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b92a3aa1-9c8f-428d-bee4-7e91682da52a	39f82bc3-4c0e-4247-a89e-a5eea762150a	g.chr12:119909950T>C	ENST00000327554.2	+	3	787	c.322T>C	c.(322-324)Tat>Cat	p.Y108H	CCDC60_ENST00000546345.1_3'UTR|RP11-768F21.1_ENST00000509470.2_lincRNA	NM_178499.3	NP_848594.2	Q8IWA6	CCD60_HUMAN	coiled-coil domain containing 60	108										endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		AGAAATCCACTATGGGGACAC	0.448													19	272					0	0	1	0	0	C	119909950	T	C	119909950	3	2	227	1	0	0	0	0	1	0	0	0	2851	1522	53	3	332	3	CCDC60	12	119909950	Missense_Mutation	SNP	T	TCGA-FN-7833-01A-11D-2086-08		119909950	13941945	17	26306											
TPSAB1	7177	broad.mit.edu	37	16	1291161	1291161	+	Silent	SNP	C	C	T			TCGA-FN-7833-01A-11D-2086-08	TCGA-FN-7833-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b92a3aa1-9c8f-428d-bee4-7e91682da52a	39f82bc3-4c0e-4247-a89e-a5eea762150a	g.chr16:1291161C>T	ENST00000461509.2	+	2	284	c.90C>T	c.(88-90)ggC>ggT	p.G30G	TPSAB1_ENST00000338844.3_Silent_p.G23G			P20231	TRYB2_HUMAN	tryptase alpha/beta 1	23					proteolysis	extracellular region	protein binding|serine-type endopeptidase activity			NS(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|skin(1)	10		Hepatocellular(780;0.00369)				CAGCCCCAGGCCAGGCCCTGC	0.716													4	44					0	0	1	0	0	T	1291161	C	T	1291161	2	4	227	1	0	0	0	0	0	0	0	1	16484	726	26	2		2	TPSAB1	16	1291161	Silent	SNP	C	TCGA-FN-7833-01A-11D-2086-08		1291161	89063592	18	26307											
IFT140	9742	broad.mit.edu	37	16	1634358	1634358	+	Missense_Mutation	SNP	G	G	A			TCGA-FN-7833-01A-11D-2086-08	TCGA-FN-7833-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b92a3aa1-9c8f-428d-bee4-7e91682da52a	39f82bc3-4c0e-4247-a89e-a5eea762150a	g.chr16:1634358G>A	ENST00000426508.2	-	11	1582	c.1219C>T	c.(1219-1221)Cgg>Tgg	p.R407W	LA16c-395F10.2_ENST00000563162.1_RNA|IFT140_ENST00000439987.2_5'UTR	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN	intraflagellar transport 140 homolog (Chlamydomonas)	407										breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				GACATGGCCCGCTCGCTGAGG	0.587													3	32					0	0	1	0	0	A	1634358	G	A	1634358	3	1	227	1	0	0	0	0	1	0	0	0	7600	1086	38	1	3253	1	IFT140	16	1634358	Missense_Mutation	SNP	G	TCGA-FN-7833-01A-11D-2086-08	343197	1634358	88720395	19	26308											
FAHD1	81889	broad.mit.edu	37	16	1877307	1877307	+	Missense_Mutation	SNP	A	A	T			TCGA-FN-7833-01A-11D-2086-08	TCGA-FN-7833-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b92a3aa1-9c8f-428d-bee4-7e91682da52a	39f82bc3-4c0e-4247-a89e-a5eea762150a	g.chr16:1877307A>T	ENST00000382666.4	+	1	340	c.77A>T	c.(76-78)aAc>aTc	p.N26I	FAHD1_ENST00000427358.2_Missense_Mutation_p.N26I|FAHD1_ENST00000382668.4_Missense_Mutation_p.N26I	NM_001018104.2	NP_001018114.1	Q6P587	FAHD1_HUMAN	fumarylacetoacetate hydrolase domain containing 1	26						mitochondrion	hydrolase activity|metal ion binding|protein binding			NS(1)|large_intestine(1)|liver(1)|ovary(2)|urinary_tract(1)	6						GTGGGGAGGAACTACGCGGAC	0.642													4	102					0	0	1	0	0	T	1877307	A	T	1877307	3	4	227	1	0	0	0	0	1	0	0	0	5403	43	2	5	79	5	FAHD1	16	1877307	Missense_Mutation	SNP	A	TCGA-FN-7833-01A-11D-2086-08	242949	1877307	88477446	20	26309											
PRPF8	10594	broad.mit.edu	37	17	1557307	1557307	+	Silent	SNP	C	C	T			TCGA-FN-7833-01A-11D-2086-08	TCGA-FN-7833-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b92a3aa1-9c8f-428d-bee4-7e91682da52a	39f82bc3-4c0e-4247-a89e-a5eea762150a	g.chr17:1557307C>T	ENST00000572621.1	-	37	6256	c.5991G>A	c.(5989-5991)gtG>gtA	p.V1997V	PRPF8_ENST00000304992.6_Silent_p.V1997V			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	1997	Involved in interaction with pre-mRNA 5' splice site.					catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		ATGCCACGTTCACACTGTGGG	0.517													42	188					0	0	1	0	0	T	1557307	C	T	1557307	2	4	227	1	0	0	0	0	0	0	0	1	12627	813	29	2		2	PRPF8	17	1557307	Silent	SNP	C	TCGA-FN-7833-01A-11D-2086-08		1557307	79637903	21	26310											
TP53	7157	broad.mit.edu	37	17	7577099	7577099	+	Missense_Mutation	SNP	C	C	T	rs121912660		TCGA-FN-7833-01A-11D-2086-08	TCGA-FN-7833-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b92a3aa1-9c8f-428d-bee4-7e91682da52a	39f82bc3-4c0e-4247-a89e-a5eea762150a	g.chr17:7577099C>T	ENST00000420246.2	-	8	971	c.839G>A	c.(838-840)aGa>aAa	p.R280K	TP53_ENST00000413465.2_Intron|TP53_ENST00000269305.4_Missense_Mutation_p.R280K|TP53_ENST00000455263.2_Missense_Mutation_p.R280K|TP53_ENST00000445888.2_Missense_Mutation_p.R280K|TP53_ENST00000359597.4_Missense_Mutation_p.R280K	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	280	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> G (in sporadic cancers; somatic mutation).|R -> I (in sporadic cancers; somatic mutation).|R -> K (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).|R -> T (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.R280T(65)|p.R280K(49)|p.R280I(16)|p.0?(8)|p.?(2)|p.R280_D281delRD(2)|p.A276_R283delACPGRDRR(1)|p.C275fs*20(1)|p.A276fs*64(1)|p.L265_K305del41(1)|p.G279_R280delGR(1)|p.F270_D281del12(1)|p.G279fs*59(1)|p.D281fs*24(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(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)		GCGCCGGTCTCTCCCAGGACA	0.542		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)			18	25					0	0	1	0	0	T	7577099	C	T	7577099	3	4	227	1	0	0	0	0	1	0	0	0	16442	913	32	2	447	2	TP53	17	7577099	Missense_Mutation	SNP	C	TCGA-FN-7833-01A-11D-2086-08	6019792	7577099	73618111	22	26311											
TP53	7157	broad.mit.edu	37	17	7578474	7578475	+	Frame_Shift_Ins	INS	-	-	GG	rs137852790		TCGA-FN-7833-01A-11D-2086-08	TCGA-FN-7833-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b92a3aa1-9c8f-428d-bee4-7e91682da52a	39f82bc3-4c0e-4247-a89e-a5eea762150a	g.chr17:7578474_7578475insGG	ENST00000420246.2	-	5	587_588	c.455_456insCC	c.(454-456)ccgfs	p.P152fs	TP53_ENST00000445888.2_Frame_Shift_Ins_p.P152fs|TP53_ENST00000413465.2_Frame_Shift_Ins_p.P152fs|TP53_ENST00000455263.2_Frame_Shift_Ins_p.P152fs|TP53_ENST00000359597.4_Frame_Shift_Ins_p.P152fs|TP53_ENST00000269305.4_Frame_Shift_Ins_p.P152fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	152	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		P -> A (in sporadic cancers; somatic mutation).|P -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|P -> Q (in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> S (in sporadic cancers; somatic mutation).|P -> T (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.P152L(66)|p.P153fs*28(9)|p.P152R(8)|p.0?(8)|p.T150fs*16(6)|p.P152P(5)|p.?(5)|p.P152fs*18(5)|p.P152fs*14(5)|p.P152Q(4)|p.P59L(2)|p.P20L(2)|p.P153fs*16(1)|p.P151_V173del23(1)|p.P152_P153del(1)|p.G154fs*16(1)|p.P152fs*27(1)|p.P20R(1)|p.P59R(1)|p.P152fs*28(1)|p.T57fs*16(1)|p.D148_T155delDSTPPPGT(1)|p.T150_P153delTPPP(1)|p.P153fs*20(1)|p.D148fs*23(1)|p.S149fs*72(1)|p.S149fs*17(1)|p.Q144_G154del11(1)|p.G154fs*27(1)|p.P152_P153insXXX(1)|p.Q144fs*16(1)|p.T18fs*16(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GGGTGCCGGGCGGGGGTGTGGA	0.614		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)			44	89	---	---	---	---						GG	7578475	-	GG	7578474	7	5	227	1	0	1	1	0	0	0	0	0	16442	755	27	0	842	0	TP53	17	7578474	Frame_Shift_Ins	INS	-	TCGA-FN-7833-01A-11D-2086-08	1375	7578474	73616736	23	26312											
MYO15A	51168	broad.mit.edu	37	17	18024582	18024582	+	Frame_Shift_Del	DEL	C	C	-			TCGA-FN-7833-01A-11D-2086-08	TCGA-FN-7833-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b92a3aa1-9c8f-428d-bee4-7e91682da52a	39f82bc3-4c0e-4247-a89e-a5eea762150a	g.chr17:18024582delC	ENST00000205890.5	+	2	2806	c.2468delC	c.(2467-2469)tccfs	p.S823fs		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	823	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					CTGCAGGAGTCCCCAGCCCCA	0.801													2	4	---	---	---	---						-	18024582	C	-	18024582	7	5	227	1	0	1	0	1	0	0	0	0	10111	855	30	0	2470	0	MYO15A	17	18024582	Frame_Shift_Del	DEL	C	TCGA-FN-7833-01A-11D-2086-08	10446108	18024582	63170628	24	26313											
SPOP	8405	broad.mit.edu	37	17	47688737	47688737	+	Missense_Mutation	SNP	T	T	G			TCGA-FN-7833-01A-11D-2086-08	TCGA-FN-7833-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b92a3aa1-9c8f-428d-bee4-7e91682da52a	39f82bc3-4c0e-4247-a89e-a5eea762150a	g.chr17:47688737T>G	ENST00000393331.3	-	8	1033	c.563A>C	c.(562-564)gAt>gCt	p.D188A	SPOP_ENST00000503676.1_Missense_Mutation_p.D188A|SPOP_ENST00000393328.2_Missense_Mutation_p.D188A|SPOP_ENST00000347630.2_Missense_Mutation_p.D188A|SPOP_ENST00000504102.1_Missense_Mutation_p.D188A	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	O43791	SPOP_HUMAN	speckle-type POZ protein	188	BTB.|Required for nuclear localization.				mRNA processing	nucleus	protein binding			endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						TCCTAACTCATCTGCCAGCCG	0.502										Prostate(2;0.17)			102	148					0	0	1	0	0	G	47688737	T	G	47688737	3	3	227	1	0	0	0	0	1	0	0	0	15140	1435	50	4	581	4	SPOP	17	47688737	Missense_Mutation	SNP	T	TCGA-FN-7833-01A-11D-2086-08	29664155	47688737	33506473	25	26314											
CABLES1	91768	broad.mit.edu	37	18	20716015	20716023	+	In_Frame_Del	DEL	GGCGCCGGC	GGCGCCGGC	-			TCGA-FN-7833-01A-11D-2086-08	TCGA-FN-7833-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b92a3aa1-9c8f-428d-bee4-7e91682da52a	39f82bc3-4c0e-4247-a89e-a5eea762150a	g.chr18:20716015_20716023delGGCGCCGGC	ENST00000256925.7	+	1	289_297	c.289_297delGGCGCCGGC	c.(289-297)ggcgccggcdel	p.GAG97del	CABLES1_ENST00000400473.2_Intron	NM_001100619.2	NP_001094089.1	Q8TDN4	CABL1_HUMAN	Cdk5 and Abl enzyme substrate 1	97	Ala-rich.|Interacts with TDRD7 (By similarity).				blood coagulation|cell cycle|cell division|regulation of cell cycle|regulation of cell division	cytosol|nucleus	cyclin-dependent protein kinase regulator activity|protein binding			breast(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|stomach(1)	11	all_cancers(21;0.000102)|all_epithelial(16;2.48e-06)|Lung NSC(20;0.00696)|all_lung(20;0.0197)|Colorectal(14;0.0202)|Ovarian(20;0.127)					ggccaagccgggcgccggcggcgcctgcg	0.785													5	1	---	---	---	---						-	20716023	GGCGCCGGC	-	20716015	7	5	227	1	0	1	0	1	0	0	0	0	2547	1232	43	0	291	0	CABLES1	18	20716015	In_Frame_Del	DEL	GGCGCCGGC	TCGA-FN-7833-01A-11D-2086-08		20716015	57361233	26	26315											
OR1M1	125963	broad.mit.edu	37	19	9204306	9204306	+	Missense_Mutation	SNP	C	C	T			TCGA-FN-7833-01A-11D-2086-08	TCGA-FN-7833-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b92a3aa1-9c8f-428d-bee4-7e91682da52a	39f82bc3-4c0e-4247-a89e-a5eea762150a	g.chr19:9204306C>T	ENST00000429566.3	+	1	452	c.386C>T	c.(385-387)cCa>cTa	p.P129L		NM_001004456.1	NP_001004456.1	Q8NGA1	OR1M1_HUMAN	olfactory receptor, family 1, subfamily M, member 1	129					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|large_intestine(3)|lung(17)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						ATCTGCCACCCATTGCACTAC	0.552													26	55					0	0	1	0	0	T	9204306	C	T	9204306	3	4	227	1	0	0	0	0	1	0	0	0	11016	594	21	2	388	2	OR1M1	19	9204306	Missense_Mutation	SNP	C	TCGA-FN-7833-01A-11D-2086-08		9204306	49924677	27	26316											
ATRX	546	broad.mit.edu	37	X	76855018	76855019	+	Frame_Shift_Ins	INS	-	-	T			TCGA-FN-7833-01A-11D-2086-08	TCGA-FN-7833-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b92a3aa1-9c8f-428d-bee4-7e91682da52a	39f82bc3-4c0e-4247-a89e-a5eea762150a	g.chrX:76855018_76855019insT	ENST00000373344.5	-	25	6031_6032	c.5817_5818insA	c.(5815-5820)aaagatfs	p.D1940fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Ins_p.D1902fs	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1940					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)	GAGCTACTATCTTTTTTCCCCT	0.356			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						204	90	---	---	---	---						T	76855019	-	T	76855018	7	5	227	1	0	1	1	0	0	0	0	0	1206	913	32	0	1704	0	ATRX	23	76855018	Frame_Shift_Ins	INS	-	TCGA-FN-7833-01A-11D-2086-08		76855018	78415542	28	26317											
COL4A5	1287	broad.mit.edu	37	X	107821211	107821211	+	Silent	SNP	A	A	T			TCGA-FN-7833-01A-11D-2086-08	TCGA-FN-7833-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b92a3aa1-9c8f-428d-bee4-7e91682da52a	39f82bc3-4c0e-4247-a89e-a5eea762150a	g.chrX:107821211A>T	ENST00000328300.6	+	11	883	c.639A>T	c.(637-639)ggA>ggT	p.G213G	COL4A5_ENST00000361603.2_Silent_p.G213G	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	213	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						GACTTCCAGGACCTAAGGTAA	0.328									Alport syndrome with Diffuse Leiomyomatosis				18	1					0	0	1	0	0	T	107821211	A	T	107821211	2	4	227	1	0	0	0	0	0	0	0	1	3717	262	10	5		5	COL4A5	23	107821211	Silent	SNP	A	TCGA-FN-7833-01A-11D-2086-08	30966193	107821211	47449349	29	26318											
THOC2	57187	broad.mit.edu	37	X	122758005	122758005	+	Missense_Mutation	SNP	C	C	T			TCGA-FN-7833-01A-11D-2086-08	TCGA-FN-7833-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b92a3aa1-9c8f-428d-bee4-7e91682da52a	39f82bc3-4c0e-4247-a89e-a5eea762150a	g.chrX:122758005C>T	ENST00000245838.8	-	27	3255	c.3224G>A	c.(3223-3225)cGg>cAg	p.R1075Q	THOC2_ENST00000491737.1_Missense_Mutation_p.R960Q|THOC2_ENST00000355725.4_Missense_Mutation_p.R1075Q	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2	1075					intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding			breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						TCCAGTTGCCCGTAATATGGT	0.328													27	4					0	0	1	0	0	T	122758005	C	T	122758005	3	4	227	1	0	0	0	0	1	0	0	0	15925	652	23	1	1605	1	THOC2	23	122758005	Missense_Mutation	SNP	C	TCGA-FN-7833-01A-11D-2086-08	14936794	122758005	32512555	30	26319											
PADI2	11240	broad.mit.edu	37	1	17413096	17413096	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	g.chr1:17413096C>T	ENST00000375486.4	-	7	817	c.754G>A	c.(754-756)Gtg>Atg	p.V252M	PADI2_ENST00000444885.2_Silent_p.S170S|PADI2_ENST00000375481.1_Missense_Mutation_p.V252M	NM_007365.2	NP_031391.2	Q9Y2J8	PADI2_HUMAN	peptidyl arginine deiminase, type II	252					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(12)|ovary(4)|pancreas(1)|skin(5)|urinary_tract(3)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000422)|Renal(390;0.000518)|all_lung(284;0.000546)|Ovarian(437;0.00671)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;1.49e-05)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)	L-Citrulline(DB00155)	AGGCCTTCCACGAAGAACAGC	0.617													12	59					0	0	0.411799	0	0	T	17413096	C	T	17413096	3	4	228	1	0	0	0	0	1	0	0	0	11425	536	19	1	1283	1	PADI2	1	17413096	Missense_Mutation	SNP	C	TCGA-HT-7467-01A-11D-2024-08		17413096	231837525	1	26320											
DMBX1	127343	broad.mit.edu	37	1	46976279	46976279	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	g.chr1:46976279C>T	ENST00000371956.4	+	2	316	c.301C>T	c.(301-303)Cgt>Tgt	p.R101C	DMBX1_ENST00000360032.3_Missense_Mutation_p.R96C	NM_147192.2	NP_671725.1	Q8NFW5	DMBX1_HUMAN	diencephalon/mesencephalon homeobox 1	101	Interacts with OXT2 and is required for repressor activity (By similarity).				brain development|developmental growth|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Acute lymphoblastic leukemia(166;0.155)					TGTGGTGATGCGTGAGAGGCT	0.602													3	29					0	0	0.184627	0	0	T	46976279	C	T	46976279	3	4	228	1	0	0	0	0	1	0	0	0	4606	768	27	1	307	1	DMBX1	1	46976279	Missense_Mutation	SNP	C	TCGA-HT-7467-01A-11D-2024-08	29563183	46976279	202274342	2	26321											
FUBP1	8880	broad.mit.edu	37	1	78435640	78435640	+	Nonsense_Mutation	SNP	A	A	C			TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	g.chr1:78435640A>C	ENST00000370767.1	-	2	267	c.180T>G	c.(178-180)taT>taG	p.Y60*	FUBP1_ENST00000436586.2_Nonsense_Mutation_p.Y60*|FUBP1_ENST00000370768.2_Nonsense_Mutation_p.Y60*			Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1	60					transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						TTTGTCCCCCATAACCATAGT	0.303			"F, N"		oligodendroglioma								13	29					0	0	0.457914	0	0	C	78435640	A	C	78435640	4	2	228	1	0	0	0	0	0	1	0	0	6127	224	8	4	1830	4	FUBP1	1	78435640	Nonsense_Mutation	SNP	A	TCGA-HT-7467-01A-11D-2024-08	31459361	78435640	170814981	3	26322	126	2									
FUBP1	8880	broad.mit.edu	37	1	78435643	78435643	+	Silent	SNP	A	A	C			TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	g.chr1:78435643A>C	ENST00000370767.1	-	2	264	c.177T>G	c.(175-177)ggT>ggG	p.G59G	FUBP1_ENST00000436586.2_Silent_p.G59G|FUBP1_ENST00000370768.2_Silent_p.G59G			Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1	59					transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						GTCCCCCATAACCATAGTCAT	0.308			"F, N"		oligodendroglioma								13	31					0	0	0.479597	0	0	C	78435643	A	C	78435643	2	2	228	1	0	0	0	0	0	0	0	1	6127	30	2	5		5	FUBP1	1	78435643	Silent	SNP	A	TCGA-HT-7467-01A-11D-2024-08	3	78435643	170814978	4	26323	126	2									
EDEM3	80267	broad.mit.edu	37	1	184723669	184723669	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	g.chr1:184723669T>C	ENST00000318130.8	-	1	378	c.112A>G	c.(112-114)Acg>Gcg	p.T38A	EDEM3_ENST00000367512.3_5'UTR	NM_025191.3	NP_079467.3	Q9BZQ6	EDEM3_HUMAN	ER degradation enhancer, mannosidase alpha-like 3	38					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						GCCCCCGCCGTCCACACGGAG	0.692													4	42					0	0	0.184627	0	0	C	184723669	T	C	184723669	3	2	228	1	0	0	0	0	1	0	0	0	4939	1667	58	3	2766	3	EDEM3	1	184723669	Missense_Mutation	SNP	T	TCGA-HT-7467-01A-11D-2024-08	106288026	184723669	64526952	5	26324											
PLA2G4A	5321	broad.mit.edu	37	1	186863284	186863284	+	Missense_Mutation	SNP	T	T	G			TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	g.chr1:186863284T>G	ENST00000367466.3	+	5	471	c.319T>G	c.(319-321)Ttt>Gtt	p.F107V	PLA2G4A_ENST00000466600.1_3'UTR|PLA2G4A_ENST00000442353.2_Missense_Mutation_p.F107V	NM_024420.2	NP_077734	P47712	PA24A_HUMAN	phospholipase A2, group IVA (cytosolic, calcium-dependent)	107	Phospholipid binding (Probable).				phospholipid catabolic process|platelet activating factor biosynthetic process|platelet activation	cytosol|endoplasmic reticulum membrane	calcium ion binding|calcium-dependent phospholipid binding|lysophospholipase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|prostate(3)|skin(4)|stomach(1)	53					Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Medrysone(DB00253)|Quinacrine(DB01103)	GACAGCAACATTTACTGTATC	0.333													20	46					0	0	0.654019	0	0	G	186863284	T	G	186863284	3	3	228	1	0	0	0	0	1	0	0	0	12049	1493	52	4	333	4	PLA2G4A	1	186863284	Missense_Mutation	SNP	T	TCGA-HT-7467-01A-11D-2024-08	2139615	186863284	62387337	6	26325											
EPHX1	2052	broad.mit.edu	37	1	226032903	226032903	+	Missense_Mutation	SNP	C	C	T	rs45495897	byFrequency	TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	g.chr1:226032903C>T	ENST00000366837.4	+	9	1419	c.1223C>T	c.(1222-1224)aCg>aTg	p.T408M	EPHX1_ENST00000272167.5_Missense_Mutation_p.T408M|RP11-285F7.2_ENST00000424332.1_RNA	NM_000120.3	NP_000111.1	P07099	HYEP_HUMAN	epoxide hydrolase 1, microsomal (xenobiotic)	408			T -> M (in dbSNP:rs45495897).		aromatic compound catabolic process|response to toxin	endoplasmic reticulum membrane|integral to membrane|microsome	cis-stilbene-oxide hydrolase activity|epoxide hydrolase activity	p.T408K(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	28	Breast(184;0.197)					CTATTGCACACGCCTGAAAAG	0.567													9	84					0	0	0.361761	0	0	T	226032903	C	T	226032903	3	4	228	1	0	0	0	0	1	0	0	0	5207	536	19	1	1253	1	EPHX1	1	226032903	Missense_Mutation	SNP	C	TCGA-HT-7467-01A-11D-2024-08	39169619	226032903	23217718	7	26326											
TRIM58	25893	broad.mit.edu	37	1	248028032	248028032	+	Missense_Mutation	SNP	G	G	A	rs147592698	by1000genomes	TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	g.chr1:248028032G>A	ENST00000366481.3	+	3	590	c.542G>A	c.(541-543)cGc>cAc	p.R181H		NM_015431.3	NP_056246.3	Q8NG06	TRI58_HUMAN	tripartite motif containing 58	181						intracellular	zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			CAGAGGCAGCGCTTCAGATTG	0.592													6	29					0	0	0.248553	0	0	A	248028032	G	A	248028032	3	1	228	1	0	0	0	0	1	0	0	0	16592	1087	38	1	552	1	TRIM58	1	248028032	Missense_Mutation	SNP	G	TCGA-HT-7467-01A-11D-2024-08	21995129	248028032	1222589	8	26327											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								9	64					0	0	0.335167	0	0	T	209113112	C	T	209113112	3	4	228	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HT-7467-01A-11D-2024-08		209113112	34086261	9	26328											
SPEG	10290	broad.mit.edu	37	2	220349218	220349219	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	g.chr2:220349218_220349219delCT	ENST00000312358.7	+	30	7165_7166	c.7033_7034delCT	c.(7033-7035)ctgfs	p.L2345fs	SPEG_ENST00000485813.1_3'UTR|AC053503.11_ENST00000429882.1_RNA	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	2345	Arg-rich.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		CGAGTCGCCCCTGTCGCTGGGG	0.698													7	14	---	---	---	---						-	220349219	CT	-	220349218	7	5	228	1	0	1	0	1	0	0	0	0	15092	680	24	0	7163	0	SPEG	2	220349218	Frame_Shift_Del	DEL	CT	TCGA-HT-7467-01A-11D-2024-08	11236106	220349218	22850155	10	26329											
CCDC158	339965	broad.mit.edu	37	4	77317545	77317545	+	Silent	SNP	A	A	G			TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	g.chr4:77317545A>G	ENST00000388914.3	-	3	317	c.165T>C	c.(163-165)ccT>ccC	p.P55P	CCDC158_ENST00000434846.2_Silent_p.P55P|CCDC158_ENST00000504868.1_5'UTR	NM_001042784.1	NP_001036249.1	Q5M9N0	CD158_HUMAN	coiled-coil domain containing 158	55										breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						CTTCATATTTAGGGAAAAAAG	0.358													5	57					0	0	0.184627	0	0	G	77317545	A	G	77317545	2	3	228	1	0	0	0	0	0	0	0	1	2809	407	15	3		3	CCDC158	4	77317545	Silent	SNP	A	TCGA-HT-7467-01A-11D-2024-08		77317545	113836731	11	26330											
RAPGEF2	9693	broad.mit.edu	37	4	160251116	160251116	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	g.chr4:160251116G>A	ENST00000264431.4	+	6	1192	c.773G>A	c.(772-774)cGa>cAa	p.R258Q		NM_014247.2	NP_055062.1	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor (GEF) 2	258					cAMP-mediated signaling|MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		AAAGAACACCGAGAACTTGAT	0.413													4	72					0	0	0.150653	0	0	A	160251116	G	A	160251116	3	1	228	1	0	0	0	0	1	0	0	0	13096	1058	37	1	795	1	RAPGEF2	4	160251116	Missense_Mutation	SNP	G	TCGA-HT-7467-01A-11D-2024-08	82933571	160251116	30903160	12	26331											
SLCO4C1	353189	broad.mit.edu	37	5	101592891	101592891	+	Missense_Mutation	SNP	G	G	A	rs145600550		TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	g.chr5:101592891G>A	ENST00000310954.6	-	8	1683	c.1397C>T	c.(1396-1398)aCg>aTg	p.T466M		NM_180991.4	NP_851322.3	Q6ZQN7	SO4C1_HUMAN	solute carrier organic anion transporter family, member 4C1	466					cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		AAAACTCAGCGTAAGTGCAAC	0.353													5	45					0	0	0.217242	0	0	A	101592891	G	A	101592891	3	1	228	1	0	0	0	0	1	0	0	0	14785	1145	40	1	801	1	SLCO4C1	5	101592891	Missense_Mutation	SNP	G	TCGA-HT-7467-01A-11D-2024-08		101592891	79322369	13	26332											
GPR110	266977	broad.mit.edu	37	6	46977421	46977421	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	g.chr6:46977421C>T	ENST00000371253.2	-	11	1965	c.1750G>A	c.(1750-1752)Gtt>Att	p.V584I	GPR110_ENST00000449332.2_5'UTR|GPR110_ENST00000283297.5_Missense_Mutation_p.V387I	NM_153840.2	NP_722582.2	Q5T601	GP110_HUMAN	G protein-coupled receptor 110	584					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	29						CATTTTACAACGGGGAAGATT	0.428													7	73					0	0	0.335167	0	0	T	46977421	C	T	46977421	3	4	228	1	0	0	0	0	1	0	0	0	6667	536	19	1	1002	1	GPR110	6	46977421	Missense_Mutation	SNP	C	TCGA-HT-7467-01A-11D-2024-08		46977421	124137646	14	26333											
DOCK5	80005	broad.mit.edu	37	8	25181376	25181376	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	g.chr8:25181376C>T	ENST00000276440.7	+	17	1672	c.1628C>T	c.(1627-1629)tCg>tTg	p.S543L		NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	543	DHR-1.					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		AGAGATAAATCGGAGCGAGCA	0.532													5	12					0	0	0.184627	0	0	T	25181376	C	T	25181376	3	4	228	1	0	0	0	0	1	0	0	0	4717	893	31	1	1694	1	DOCK5	8	25181376	Missense_Mutation	SNP	C	TCGA-HT-7467-01A-11D-2024-08		25181376	121182646	15	26334											
UBXN8	7993	broad.mit.edu	37	8	30601805	30601805	+	RNA	SNP	C	C	T	rs2278092	by1000genomes	TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	g.chr8:30601805C>T	ENST00000519246.1	+	0	115							O00124	UBXN8_HUMAN	UBX domain protein 8						single fertilization					central_nervous_system(1)|lung(2)	3						GTAAGTGTGACTTTTTCCCTT	0.532													4	18					0	0	0.150653	0	0	T	30601805	C	T	30601805	1	4	228	0	1	0	0	0	0	0	0	0	16979	580	20	2		2	UBXN8	8	30601805	RNA	SNP	C	TCGA-HT-7467-01A-11D-2024-08	5420429	30601805	115762217	16	26335											
UBR5	51366	broad.mit.edu	37	8	103297901	103297901	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	g.chr8:103297901C>T	ENST00000520539.1	-	39	5930	c.5324G>A	c.(5323-5325)aGc>aAc	p.S1775N	UBR5_ENST00000521922.1_Missense_Mutation_p.S1769N|UBR5_ENST00000220959.4_Missense_Mutation_p.S1775N	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	1775					cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			TAGGTAACTGCTGGCGTTGCT	0.463													19	77					0	0	0.557998	0	0	T	103297901	C	T	103297901	3	4	228	1	0	0	0	0	1	0	0	0	16966	797	28	2	3159	2	UBR5	8	103297901	Missense_Mutation	SNP	C	TCGA-HT-7467-01A-11D-2024-08	72696096	103297901	43066121	17	26336											
SLC30A8	169026	broad.mit.edu	37	8	118170064	118170064	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	g.chr8:118170064G>A	ENST00000427715.2	+	7	840	c.406G>A	c.(406-408)Gca>Aca	p.A136T	SLC30A8_ENST00000519688.1_Missense_Mutation_p.A136T|SLC30A8_ENST00000521243.1_Missense_Mutation_p.A136T|SLC30A8_ENST00000456015.2_Missense_Mutation_p.A185T	NM_001172813.1|NM_001172815.1	NP_001166284.1|NP_001166286.1	Q8IWU4	ZNT8_HUMAN	solute carrier family 30 (zinc transporter), member 8	185					insulin secretion|positive regulation of insulin secretion|regulation of sequestering of zinc ion|regulation of vesicle-mediated transport|response to glucose stimulus|sequestering of zinc ion	integral to membrane|plasma membrane|secretory granule membrane|transport vesicle membrane	protein homodimerization activity|zinc ion transmembrane transporter activity			breast(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(18)|ovary(2)|pancreas(2)|skin(5)	41	all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.203)			TTCCAGCTGCGCAGTGGCGGC	0.527													17	89					0	0	0.539581	0	0	A	118170064	G	A	118170064	3	1	228	1	0	0	0	0	1	0	0	0	14616	1087	38	1	567	1	SLC30A8	8	118170064	Missense_Mutation	SNP	G	TCGA-HT-7467-01A-11D-2024-08	14872163	118170064	28193958	18	26337											
ENPP2	5168	broad.mit.edu	37	8	120628508	120628508	+	Missense_Mutation	SNP	T	T	A			TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	g.chr8:120628508T>A	ENST00000427067.2	-	8	942	c.762A>T	c.(760-762)caA>caT	p.Q254H	ENPP2_ENST00000259486.6_Missense_Mutation_p.Q258H|ENPP2_ENST00000075322.6_Missense_Mutation_p.Q258H|ENPP2_ENST00000522826.1_Missense_Mutation_p.Q258H			Q13822	ENPP2_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 2	258	Substrate binding (By similarity).				cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration	extracellular space|integral to plasma membrane	alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			AACTTACCGGTTGACCTCCCC	0.378													10	62					0	0	0.361761	0	0	A	120628508	T	A	120628508	3	1	228	1	0	0	0	0	1	0	0	0	5158	1722	60	5	2128	5	ENPP2	8	120628508	Missense_Mutation	SNP	T	TCGA-HT-7467-01A-11D-2024-08	2458444	120628508	25735514	19	26338											
FAM154A	158297	broad.mit.edu	37	9	18928829	18928829	+	Missense_Mutation	SNP	C	C	T	rs117915008	by1000genomes	TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	g.chr9:18928829C>T	ENST00000380534.4	-	4	925	c.646G>A	c.(646-648)Gtg>Atg	p.V216M	FAM154A_ENST00000542071.1_Missense_Mutation_p.V24M|FAM154A_ENST00000380530.1_3'UTR	NM_153707.2	NP_714918.2	Q8IYX7	F154A_HUMAN	family with sequence similarity 154, member A	216										breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|skin(1)	26				GBM - Glioblastoma multiforme(50;6.53e-16)		CGCTTCTCCACGGGGTGGGCC	0.507													15	73					0	0	0.500413	0	0	T	18928829	C	T	18928829	3	4	228	1	0	0	0	0	1	0	0	0	5493	536	19	1	782	1	FAM154A	9	18928829	Missense_Mutation	SNP	C	TCGA-HT-7467-01A-11D-2024-08		18928829	122284602	20	26339											
ARMC3	219681	broad.mit.edu	37	10	23248333	23248333	+	Missense_Mutation	SNP	G	G	C			TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	g.chr10:23248333G>C	ENST00000298032.5	+	6	451	c.367G>C	c.(367-369)Gta>Cta	p.V123L	ARMC3_ENST00000409983.3_Missense_Mutation_p.V123L|ARMC3_ENST00000464017.1_3'UTR|ARMC3_ENST00000376528.4_Intron|ARMC3_ENST00000409049.3_Missense_Mutation_p.V123L	NM_173081.3	NP_775104.2	Q5W041	ARMC3_HUMAN	armadillo repeat containing 3	123							binding			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						CACAGAAGAAGTAGTTATCCA	0.363													4	43					0	0	0.150653	0	0	C	23248333	G	C	23248333	3	2	228	1	0	0	0	0	1	0	0	0	951	1029	36	4	385	4	ARMC3	10	23248333	Missense_Mutation	SNP	G	TCGA-HT-7467-01A-11D-2024-08		23248333	112286414	21	26340											
ANKRD30A	91074	broad.mit.edu	37	10	37442521	37442521	+	Missense_Mutation	SNP	C	C	A			TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	g.chr10:37442521C>A	ENST00000374660.1	+	13	1660	c.1561C>A	c.(1561-1563)Cag>Aag	p.Q521K	ANKRD30A_ENST00000361713.1_Missense_Mutation_p.Q521K|ANKRD30A_ENST00000602533.1_Missense_Mutation_p.Q521K			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	577						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						GACTGTTTCACAGAAGGATGT	0.274													15	95					1.33834e-09	1.39187e-09	0.557998	1	0	A	37442521	C	A	37442521	3	1	228	1	0	0	0	0	1	0	0	0	654	479	17	5	1611	5	ANKRD30A	10	37442521	Missense_Mutation	SNP	C	TCGA-HT-7467-01A-11D-2024-08	14194188	37442521	98092226	22	26341											
OR5A1	219982	broad.mit.edu	37	11	59211138	59211138	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	g.chr11:59211138T>C	ENST00000302030.2	+	1	522	c.497T>C	c.(496-498)aTa>aCa	p.I166T		NM_001004728.1	NP_001004728.1	Q8NGJ0	OR5A1_HUMAN	olfactory receptor, family 5, subfamily A, member 1	166					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	28						GCCAGCTCCATATTTAGGCTT	0.542													44	294					0	0	0.870114	0	0	C	59211138	T	C	59211138	3	2	228	1	0	0	0	0	1	0	0	0	11186	1406	49	3	499	3	OR5A1	11	59211138	Missense_Mutation	SNP	T	TCGA-HT-7467-01A-11D-2024-08		59211138	75795378	23	26342											
CHRM1	1128	broad.mit.edu	37	11	62677198	62677198	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	g.chr11:62677198G>A	ENST00000306960.3	-	2	1916	c.1375C>T	c.(1375-1377)Caa>Taa	p.Q459*	AP000438.2_ENST00000543624.1_RNA	NM_000738.2	NP_000729.2	P11229	ACM1_HUMAN	cholinergic receptor, muscarinic 1	459					activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell proliferation|nervous system development|positive regulation of cell proliferation|protein modification process	cell junction|integral to plasma membrane|membrane fraction|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity|protein binding			large_intestine(5)|lung(3)|stomach(1)	9					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Benztropine(DB00245)|Bethanechol(DB01019)|Biperiden(DB00810)|Buclizine(DB00354)|Carbachol(DB00411)|Carbinoxamine(DB00748)|Cevimeline(DB00185)|Clidinium(DB00771)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Cyclopentolate(DB00979)|Cycrimine(DB00942)|Desipramine(DB01151)|Dicyclomine(DB00804)|Diphenidol(DB01231)|Doxylamine(DB00366)|Ethopropazine(DB00392)|Flavoxate(DB01148)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methantheline(DB00940)|Methotrimeprazine(DB01403)|Methylscopolamine(DB00462)|Metixene(DB00340)|Metoclopramide(DB01233)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Oxyphenonium(DB00219)|Pilocarpine(DB01085)|Pirenzepine(DB00670)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propantheline(DB00782)|Propiomazine(DB00777)|Quinacrine(DB01103)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)|Trihexyphenidyl(DB00376)|Trospium(DB00209)	TATCAGCATTGGCGGGAGGGA	0.682													19	95					0	0	0.557998	0	0	A	62677198	G	A	62677198	4	1	228	1	0	0	0	0	0	1	0	0	3398	1357	47	2	11	2	CHRM1	11	62677198	Nonsense_Mutation	SNP	G	TCGA-HT-7467-01A-11D-2024-08	3466060	62677198	72329318	24	26343											
AKAP3	10566	broad.mit.edu	37	12	4737521	4737521	+	Missense_Mutation	SNP	C	C	T	rs140759485		TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	g.chr12:4737521C>T	ENST00000545990.2	-	5	1071	c.547G>A	c.(547-549)Gtc>Atc	p.V183I	AKAP3_ENST00000228850.1_Missense_Mutation_p.V183I|RP11-500M8.7_ENST00000536588.1_Intron	NM_001278309.1	NP_001265238.1	O75969	AKAP3_HUMAN	A kinase (PRKA) anchor protein 3	183					acrosome reaction|cellular component movement	acrosomal vesicle	protein kinase A binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	51						CATGCAGAGACGGTCTCATTC	0.478													25	118					0	0	0.654019	0	0	T	4737521	C	T	4737521	3	4	228	1	0	0	0	0	1	0	0	0	449	536	19	1	2022	1	AKAP3	12	4737521	Missense_Mutation	SNP	C	TCGA-HT-7467-01A-11D-2024-08		4737521	129114374	25	26344											
ANAPC5	51433	broad.mit.edu	37	12	121769171	121769171	+	Translation_Start_Site	SNP	G	G	A			TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	g.chr12:121769171G>A	ENST00000535482.1	-	0	23				ANAPC5_ENST00000261819.3_Silent_p.H337H|ANAPC5_ENST00000344395.4_Silent_p.H238H|ANAPC5_ENST00000541887.1_Silent_p.H337H|ANAPC5_ENST00000441917.2_Silent_p.H238H|ANAPC5_ENST00000544314.1_Intron|ANAPC5_ENST00000536366.1_Intron			Q9UJX4	APC5_HUMAN	anaphase promoting complex subunit 5						anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding|ubiquitin-protein ligase activity			breast(6)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(3)	31	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					GGAGACACACGTGATCGTTGG	0.488													9	27					0	0	0.335167	0	0	A	121769171	G	A	121769171	1	1	228	1	0	0	0	0	0	0	0	0	601	1136	40	1		1	ANAPC5	12	121769171	Translation_Start_Site	SNP	G	TCGA-HT-7467-01A-11D-2024-08	117031650	121769171	12082724	26	26345											
COL4A1	1282	broad.mit.edu	37	13	110813712	110813712	+	Silent	SNP	C	C	T			TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	g.chr13:110813712C>T	ENST00000375820.4	-	49	4588	c.4467G>A	c.(4465-4467)acG>acA	p.T1489T	COL4A1_ENST00000467182.1_5'UTR	NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	1489	Collagen IV NC1.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			AGCTGCCGGCCGTGCCTAGAC	0.438													3	17					0	0	0.115264	0	0	T	110813712	C	T	110813712	2	4	228	1	0	0	0	0	0	0	0	1	3712	639	23	1		1	COL4A1	13	110813712	Silent	SNP	C	TCGA-HT-7467-01A-11D-2024-08		110813712	4356166	27	26346											
REM2	161253	broad.mit.edu	37	14	23354154	23354154	+	Silent	SNP	G	G	A			TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	g.chr14:23354154G>A	ENST00000267396.4	+	2	498	c.375G>A	c.(373-375)gtG>gtA	p.V125V	REM2_ENST00000536884.1_Silent_p.V125V	NM_173527.2	NP_775798.2	Q8IYK8	REM2_HUMAN	RAS (RAD and GEM)-like GTP binding 2	125					regulation of transcription, DNA-dependent|small GTPase mediated signal transduction	intracellular|plasma membrane	ATP binding|GTP binding|transcription factor binding			breast(1)|central_nervous_system(1)|large_intestine(2)|ovary(1)	5	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.012)		AGAGCGGCGTGGGCAAGAGCA	0.607													15	49					0	0	0.457914	0	0	A	23354154	G	A	23354154	2	1	228	1	0	0	0	0	0	0	0	1	13275	1335	47	2		2	REM2	14	23354154	Silent	SNP	G	TCGA-HT-7467-01A-11D-2024-08		23354154	83995386	28	26347											
AP1G2	8906	broad.mit.edu	37	14	24035874	24035874	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	g.chr14:24035874C>T	ENST00000308724.5	-	2	981	c.226G>A	c.(226-228)Gcc>Acc	p.A76T	AP1G2_ENST00000556277.1_5'UTR|RP11-66N24.3_ENST00000555968.1_RNA|AP1G2_ENST00000397120.3_Missense_Mutation_p.A76T	NM_003917.2	NP_003908.1	O75843	AP1G2_HUMAN	adaptor-related protein complex 1, gamma 2 subunit	76					interspecies interaction between organisms|intracellular protein transport|vesicle-mediated transport	AP-1 adaptor complex|endosome membrane	protein binding|protein transporter activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	28	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00672)		CTGGAGGAGGCGATCAGTTTC	0.527													18	114					0	0	0.557998	0	0	T	24035874	C	T	24035874	3	4	228	1	0	0	0	0	1	0	0	0	729	768	27	1	2211	1	AP1G2	14	24035874	Missense_Mutation	SNP	C	TCGA-HT-7467-01A-11D-2024-08	681720	24035874	83313666	29	26348											
SLC43A2	124935	broad.mit.edu	37	17	1516558	1516558	+	Silent	SNP	G	G	A			TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	g.chr17:1516558G>A	ENST00000301335.5	-	5	520	c.432C>T	c.(430-432)tcC>tcT	p.S144S	SLC43A2_ENST00000571650.1_Silent_p.S144S|SLC43A2_ENST00000382147.4_Silent_p.S144S	NM_001284498.1|NM_001284499.1	NP_001271427.1|NP_001271428.1	Q8N370	LAT4_HUMAN	solute carrier family 43 (amino acid system L transporter), member 2						cellular nitrogen compound metabolic process|ion transport	integral to membrane|plasma membrane				endometrium(4)|large_intestine(4)|liver(1)|lung(2)|upper_aerodigestive_tract(1)	12				UCEC - Uterine corpus endometrioid carcinoma (25;0.0883)		AGATGAGCACGGAGAGAGCTG	0.552													4	25					0	0	0.217242	0	0	A	1516558	G	A	1516558	2	1	228	1	0	0	0	0	0	0	0	1	14688	1103	39	1		1	SLC43A2	17	1516558	Silent	SNP	G	TCGA-HT-7467-01A-11D-2024-08		1516558	79678652	30	26349											
LAMA3	3909	broad.mit.edu	37	18	21364088	21364088	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	g.chr18:21364088C>T	ENST00000313654.9	+	12	1811	c.1570C>T	c.(1570-1572)Cgc>Tgc	p.R524C	LAMA3_ENST00000399516.3_Missense_Mutation_p.R524C	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	524	Domain V.|Laminin EGF-like 4.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TGATACCTGCCGCTCTGGTTT	0.498													26	153					0	0	0.654019	0	0	T	21364088	C	T	21364088	3	4	228	1	0	0	0	0	1	0	0	0	8646	652	23	1	1616	1	LAMA3	18	21364088	Missense_Mutation	SNP	C	TCGA-HT-7467-01A-11D-2024-08		21364088	56713160	31	26350											
OR2Z1	284383	broad.mit.edu	37	19	8841797	8841797	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	g.chr19:8841797T>C	ENST00000324060.2	+	1	482	c.407T>C	c.(406-408)aTg>aCg	p.M136T		NM_001004699.1	NP_001004699.1	Q8NG97	OR2Z1_HUMAN	olfactory receptor, family 2, subfamily Z, member 1	136					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CCTGTACTTATGAGACGCCAG	0.547													24	98					0	0	0.667858	0	0	C	8841797	T	C	8841797	3	2	228	1	0	0	0	0	1	0	0	0	11084	1464	51	3	409	3	OR2Z1	19	8841797	Missense_Mutation	SNP	T	TCGA-HT-7467-01A-11D-2024-08		8841797	50287186	32	26351											
RYR1	6261	broad.mit.edu	37	19	39055678	39055678	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	g.chr19:39055678G>A	ENST00000355481.4	+	90	12820	c.12689G>A	c.(12688-12690)aGt>aAt	p.S4230N	RYR1_ENST00000360985.3_Missense_Mutation_p.S4230N|RYR1_ENST00000359596.3_Missense_Mutation_p.S4235N	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	4235					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	CTCTTCGTGAGTTTCTGCGAG	0.657													4	1					0	0	0.150653	0	0	A	39055678	G	A	39055678	3	1	228	1	0	0	0	0	1	0	0	0	13820	1029	36	2	13066	2	RYR1	19	39055678	Missense_Mutation	SNP	G	TCGA-HT-7467-01A-11D-2024-08	30213881	39055678	20073305	33	26352											
PTPRH	5794	broad.mit.edu	37	19	55693461	55693461	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	g.chr19:55693461G>A	ENST00000376350.3	-	19	3143	c.3121C>T	c.(3121-3123)Cag>Tag	p.Q1041*	PTPRH_ENST00000263434.5_Nonsense_Mutation_p.Q863*	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	1041	Tyrosine-protein phosphatase.				apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.Q1041E(1)		breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		CCCTCGGACTGCAGCTGCCGG	0.607													7	94					0	0	0.248553	0	0	A	55693461	G	A	55693461	4	1	228	1	0	0	0	0	0	1	0	0	12855	1328	46	2	234	2	PTPRH	19	55693461	Nonsense_Mutation	SNP	G	TCGA-HT-7467-01A-11D-2024-08	16637783	55693461	3435522	34	26353											
PCSK2	5126	broad.mit.edu	37	20	17339014	17339014	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	g.chr20:17339014C>T	ENST00000262545.2	+	3	640	c.325C>T	c.(325-327)Cga>Tga	p.R109*	PCSK2_ENST00000536609.1_Nonsense_Mutation_p.R74*|PCSK2_ENST00000377899.1_Nonsense_Mutation_p.R90*	NM_002594.3	NP_002585.2	P16519	NEC2_HUMAN	proprotein convertase subtilisin/kexin type 2	109					enkephalin processing|insulin processing|islet amyloid polypeptide processing	extracellular space|membrane|soluble fraction|transport vesicle	serine-type endopeptidase activity			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CCGAAAAAAGCGAGGTTACAG	0.398													7	54					0	0	0.248553	0	0	T	17339014	C	T	17339014	4	4	228	1	0	0	0	0	0	1	0	0	11648	760	27	1	335	1	PCSK2	20	17339014	Nonsense_Mutation	SNP	C	TCGA-HT-7467-01A-11D-2024-08		17339014	45686506	35	26354											
TMEM189	387521	broad.mit.edu	37	20	48700714	48700714	+	Silent	SNP	T	T	C			TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	g.chr20:48700714T>C	ENST00000557021.1	-	7	1078	c.918A>G	c.(916-918)agA>agG	p.R306R	UBE2V1_ENST00000340309.3_Silent_p.R106R|UBE2V1_ENST00000415862.2_Silent_p.R39R|UBE2V1_ENST00000371674.3_Silent_p.R83R|UBE2V1_ENST00000371657.5_Intron|UBE2V1_ENST00000420027.2_Silent_p.R39R|TMEM189-UBE2V1_ENST00000341698.2_Silent_p.R306R|UBE2V1_ENST00000371677.3_Silent_p.R106R|UBE2V1_ENST00000396059.3_5'UTR	NM_199203.2	NP_954673			transmembrane protein 189											breast(1)|endometrium(2)|large_intestine(3)|lung(2)	8			BRCA - Breast invasive adenocarcinoma(9;3.02e-07)			TTGTTACAAATCTTACAAAGG	0.358													23	108					0	0	0.608945	0	0	C	48700714	T	C	48700714	2	2	228	1	0	0	0	0	0	0	0	1	16171	1432	50	3		3	TMEM189	20	48700714	Silent	SNP	T	TCGA-HT-7467-01A-11D-2024-08	31361700	48700714	14324806	36	26355											
CTSZ	1522	broad.mit.edu	37	20	57576621	57576621	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	g.chr20:57576621G>A	ENST00000217131.5	-	3	504	c.386C>T	c.(385-387)gCt>gTt	p.A129V		NM_001336.3	NP_001327.2	Q9UBR2	CATZ_HUMAN	cathepsin Z	129			A -> R (requires 2 nucleotide substitutions).		proteolysis	endoplasmic reticulum|extracellular space|lysosome	cysteine-type endopeptidase activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)	10	all_lung(29;0.00711)		Colorectal(105;0.109)			ACAGGAGCCAGCGTTACCGCA	0.602													11	57					0	0	0.38729	0	0	A	57576621	G	A	57576621	3	1	228	1	0	0	0	0	1	0	0	0	4067	971	34	2	541	2	CTSZ	20	57576621	Missense_Mutation	SNP	G	TCGA-HT-7467-01A-11D-2024-08	8875907	57576621	5448899	37	26356											
ARID1A	8289	broad.mit.edu	37	1	27105550	27105550	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HT-7468-01A-11D-2024-08	TCGA-HT-7468-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	053517e5-fb21-4127-b893-bdda23e4de42	219554d7-3116-498e-8f48-05286e616cc7	g.chr1:27105550C>T	ENST00000324856.7	+	20	5532	c.5161C>T	c.(5161-5163)Cga>Tga	p.R1721*	ARID1A_ENST00000374152.2_Nonsense_Mutation_p.R1338*|ARID1A_ENST00000540690.1_Nonsense_Mutation_p.R49*|ARID1A_ENST00000457599.2_Nonsense_Mutation_p.R1504*	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1721					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	p.R1721*(3)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		AGAATATTTCCGACGATGCCT	0.443			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"								22	158					0	0	0.014323	0	0	T	27105550	C	T	27105550	4	4	229	1	0	0	0	0	0	1	0	0	910	644	23	1	5239	1	ARID1A	1	27105550	Nonsense_Mutation	SNP	C	TCGA-HT-7468-01A-11D-2024-08		27105550	222145071	1	26357											
LPHN2	23266	broad.mit.edu	37	1	82408735	82408735	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-7468-01A-11D-2024-08	TCGA-HT-7468-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	053517e5-fb21-4127-b893-bdda23e4de42	219554d7-3116-498e-8f48-05286e616cc7	g.chr1:82408735C>G	ENST00000370728.1	+	8	1125	c.480C>G	c.(478-480)tgC>tgG	p.C160W	LPHN2_ENST00000370713.1_Missense_Mutation_p.C160W|LPHN2_ENST00000271029.4_Missense_Mutation_p.C160W|LPHN2_ENST00000370727.1_Missense_Mutation_p.C160W|LPHN2_ENST00000394879.1_Missense_Mutation_p.C160W|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000335786.5_Missense_Mutation_p.C160W|LPHN2_ENST00000370721.1_Missense_Mutation_p.C164W|LPHN2_ENST00000359929.3_Missense_Mutation_p.C160W|LPHN2_ENST00000370730.1_Missense_Mutation_p.C160W|LPHN2_ENST00000319517.6_Missense_Mutation_p.C160W|LPHN2_ENST00000370717.2_Missense_Mutation_p.C160W|LPHN2_ENST00000370725.1_Missense_Mutation_p.C160W|LPHN2_ENST00000370715.1_Missense_Mutation_p.C160W|LPHN2_ENST00000370723.1_Missense_Mutation_p.C160W			O95490	LPHN2_HUMAN	latrophilin 2	160	Olfactomedin-like.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		GTGCTTGGTGCAAGGACCCTC	0.408													9	38					0	0	0.004482	0	0	G	82408735	C	G	82408735	3	3	229	1	0	0	0	0	1	0	0	0	8961	718	25	5	494	5	LPHN2	1	82408735	Missense_Mutation	SNP	C	TCGA-HT-7468-01A-11D-2024-08	55303185	82408735	166841886	2	26358											
GALNT5	11227	broad.mit.edu	37	2	158152216	158152216	+	Missense_Mutation	SNP	G	G	A	rs138347479		TCGA-HT-7468-01A-11D-2024-08	TCGA-HT-7468-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	053517e5-fb21-4127-b893-bdda23e4de42	219554d7-3116-498e-8f48-05286e616cc7	g.chr2:158152216G>A	ENST00000259056.4	+	4	2268	c.1783G>A	c.(1783-1785)Gtt>Att	p.V595I		NM_014568.1	NP_055383.1	Q7Z7M9	GALT5_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5)	595	Catalytic subdomain A.				glycosaminoglycan biosynthetic process	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(4)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	56						GGAATGTAACGTTGGTTGGTT	0.358													8	201					0	0	0.004482	0	0	A	158152216	G	A	158152216	3	1	229	1	0	0	0	0	1	0	0	0	6256	1145	40	1	1797	1	GALNT5	2	158152216	Missense_Mutation	SNP	G	TCGA-HT-7468-01A-11D-2024-08		158152216	85047157	3	26359											
TTN	7273	broad.mit.edu	37	2	179434377	179434377	+	Silent	SNP	G	G	A			TCGA-HT-7468-01A-11D-2024-08	TCGA-HT-7468-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	053517e5-fb21-4127-b893-bdda23e4de42	219554d7-3116-498e-8f48-05286e616cc7	g.chr2:179434377G>A	ENST00000589042.1	-	326	76706	c.76482C>T	c.(76480-76482)gaC>gaT	p.D25494D	TTN_ENST00000342175.6_Silent_p.D16621D|TTN_ENST00000591111.1_Silent_p.D23853D|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Silent_p.D22926D|TTN_ENST00000359218.5_Silent_p.D16554D|TTN_ENST00000460472.2_Silent_p.D16429D|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592689.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	23853	Fibronectin type-III 85.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTCCAGGGACGTCAGCATGTT	0.373													5	17					0	0	0.014758	0	0	A	179434377	G	A	179434377	2	1	229	1	0	0	0	0	0	0	0	1	16797	1136	40	1		1	TTN	2	179434377	Silent	SNP	G	TCGA-HT-7468-01A-11D-2024-08	21282161	179434377	63764996	4	26360											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-HT-7468-01A-11D-2024-08	TCGA-HT-7468-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	053517e5-fb21-4127-b893-bdda23e4de42	219554d7-3116-498e-8f48-05286e616cc7	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								27	48					0	0	0.009535	0	0	T	209113112	C	T	209113112	3	4	229	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HT-7468-01A-11D-2024-08	29678735	209113112	34086261	5	26361											
SCN11A	11280	broad.mit.edu	37	3	38936278	38936278	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-7468-01A-11D-2024-08	TCGA-HT-7468-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	053517e5-fb21-4127-b893-bdda23e4de42	219554d7-3116-498e-8f48-05286e616cc7	g.chr3:38936278G>T	ENST00000450244.1	-	15	2779	c.2581C>A	c.(2581-2583)Caa>Aaa	p.Q861K	SCN11A_ENST00000456224.3_Missense_Mutation_p.Q861K|SCN11A_ENST00000444237.2_Missense_Mutation_p.Q861K|SCN11A_ENST00000302328.3_Missense_Mutation_p.Q861K			Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	861					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	GGTAAGTTTTGCTTCCTGCAC	0.488													42	62					2.24722e-20	2.60678e-20	0.01441	1	0	T	38936278	G	T	38936278	3	4	229	1	0	0	0	0	1	0	0	0	13967	1328	46	5	2842	5	SCN11A	3	38936278	Missense_Mutation	SNP	G	TCGA-HT-7468-01A-11D-2024-08		38936278	159086152	6	26362											
PIK3CA	5290	broad.mit.edu	37	3	178952072	178952072	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7468-01A-11D-2024-08	TCGA-HT-7468-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	053517e5-fb21-4127-b893-bdda23e4de42	219554d7-3116-498e-8f48-05286e616cc7	g.chr3:178952072A>G	ENST00000263967.3	+	21	3284	c.3127A>G	c.(3127-3129)Atg>Gtg	p.M1043V		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1043	PI3K/PI4K.		M -> I (in cancer; shows an increase in lipid kinase activity).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.M1043V(22)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			CATGAAACAAATGAATGATGC	0.368		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			40	44					0	0	0.027894	0	0	G	178952072	A	G	178952072	3	3	229	1	0	0	0	0	1	0	0	0	11961	101	4	3	3205	3	PIK3CA	3	178952072	Missense_Mutation	SNP	A	TCGA-HT-7468-01A-11D-2024-08	140015794	178952072	19070358	7	26363											
CRIPAK	285464	broad.mit.edu	37	4	1388948	1388948	+	Missense_Mutation	SNP	A	A	C	rs71299249	byFrequency	TCGA-HT-7468-01A-11D-2024-08	TCGA-HT-7468-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	053517e5-fb21-4127-b893-bdda23e4de42	219554d7-3116-498e-8f48-05286e616cc7	g.chr4:1388948A>C	ENST00000324803.4	+	1	3609	c.649A>C	c.(649-651)Agt>Cgt	p.S217R		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	217					ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus	endoplasmic reticulum|nucleus|plasma membrane	protein binding			NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			GCCCATGTGGAGTGTTCGCCT	0.662													4	22					0	0	0.009096	0	0	C	1388948	A	C	1388948	3	2	229	1	0	0	0	0	1	0	0	0	3900	304	11	5	651	5	CRIPAK	4	1388948	Missense_Mutation	SNP	A	TCGA-HT-7468-01A-11D-2024-08		1388948	189765328	8	26364											
NIPBL	25836	broad.mit.edu	37	5	37048690	37048693	+	Frame_Shift_Del	DEL	TCAG	TCAG	-			TCGA-HT-7468-01A-11D-2024-08	TCGA-HT-7468-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	053517e5-fb21-4127-b893-bdda23e4de42	219554d7-3116-498e-8f48-05286e616cc7	g.chr5:37048690_37048693delTCAG	ENST00000282516.8	+	39	7175_7178	c.6676_6679delTCAG	c.(6676-6681)tcagtcfs	p.SV2226fs	NIPBL_ENST00000448238.2_Frame_Shift_Del_p.SV2226fs	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	2226					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			TAAGAACTCCTCAGTCAATTTAAA	0.353													25	37	---	---	---	---						-	37048693	TCAG	-	37048690	7	5	229	1	0	1	0	1	0	0	0	0	10475	1551	54	0	6826	0	NIPBL	5	37048690	Frame_Shift_Del	DEL	TCAG	TCGA-HT-7468-01A-11D-2024-08		37048690	143866570	9	26365											
TNXB	7148	broad.mit.edu	37	6	32053695	32053695	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7468-01A-11D-2024-08	TCGA-HT-7468-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	053517e5-fb21-4127-b893-bdda23e4de42	219554d7-3116-498e-8f48-05286e616cc7	g.chr6:32053695G>A	ENST00000375244.3	-	7	3181	c.2980C>T	c.(2980-2982)Cgc>Tgc	p.R994C	TNXB_ENST00000375247.2_Missense_Mutation_p.R994C			P22105	TENX_HUMAN	tenascin XB	1081	Fibronectin type-III 2.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						ACCCGCATGCGCAGTTGGAAG	0.672													33	42					0	0	0.027894	0	0	A	32053695	G	A	32053695	3	1	229	1	0	0	0	0	1	0	0	0	16406	1087	38	1	11885	1	TNXB	6	32053695	Missense_Mutation	SNP	G	TCGA-HT-7468-01A-11D-2024-08		32053695	139061372	10	26366											
TDRD6	221400	broad.mit.edu	37	6	46660414	46660415	+	Frame_Shift_Ins	INS	-	-	A	rs145334816		TCGA-HT-7468-01A-11D-2024-08	TCGA-HT-7468-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	053517e5-fb21-4127-b893-bdda23e4de42	219554d7-3116-498e-8f48-05286e616cc7	g.chr6:46660414_46660415insA	ENST00000544460.1	+	1	4803_4804	c.4549_4550insA	c.(4549-4551)gaafs	p.E1517fs	TDRD6_ENST00000316081.6_Frame_Shift_Ins_p.E1517fs	NM_001168359.1	NP_001161831.1	O60522	TDRD6_HUMAN	tudor domain containing 6	1517					cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			GTATAATCCAGAAAAAAAAATG	0.351													7	93	---	---	---	---						A	46660415	-	A	46660414	7	5	229	1	0	1	1	0	0	0	0	0	15793	943	33	0	4551	0	TDRD6	6	46660414	Frame_Shift_Ins	INS	-	TCGA-HT-7468-01A-11D-2024-08	14606719	46660414	124454653	11	26367											
C7orf63	79846	broad.mit.edu	37	7	89929253	89929253	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7468-01A-11D-2024-08	TCGA-HT-7468-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	053517e5-fb21-4127-b893-bdda23e4de42	219554d7-3116-498e-8f48-05286e616cc7	g.chr7:89929253G>A	ENST00000389297.4	+	17	2181	c.1930G>A	c.(1930-1932)Gct>Act	p.A644T	C7orf63_ENST00000316089.8_Missense_Mutation_p.A644T|C7orf63_ENST00000497910.1_Missense_Mutation_p.A626T	NM_001039706.2|NM_001160138.1	NP_001034795.2|NP_001153610.1	A5D8W1	CG063_HUMAN	chromosome 7 open reading frame 63	644							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|prostate(3)	37						CAAAACTGCAGCTCATGTCAA	0.348													20	20					0	0	0.007413	0	0	A	89929253	G	A	89929253	3	1	229	1	0	0	0	0	1	0	0	0	2425	971	34	2	1996	2	C7orf63	7	89929253	Missense_Mutation	SNP	G	TCGA-HT-7468-01A-11D-2024-08		89929253	69209410	12	26368											
SLC13A1	6561	broad.mit.edu	37	7	122768985	122768985	+	Silent	SNP	C	C	T			TCGA-HT-7468-01A-11D-2024-08	TCGA-HT-7468-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	053517e5-fb21-4127-b893-bdda23e4de42	219554d7-3116-498e-8f48-05286e616cc7	g.chr7:122768985C>T	ENST00000194130.2	-	10	1086	c.1047G>A	c.(1045-1047)gtG>gtA	p.V349V	SLC13A1_ENST00000539873.1_3'UTR	NM_022444.3	NP_071889.2	Q9BZW2	S13A1_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 1	349						integral to membrane|plasma membrane	sodium:sulfate symporter activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	45					Succinic acid(DB00139)	GGACCAAGGTCACAATTTCTT	0.418													13	20					0	0	0.013537	0	0	T	122768985	C	T	122768985	2	4	229	1	0	0	0	0	0	0	0	1	14446	813	29	2		2	SLC13A1	7	122768985	Silent	SNP	C	TCGA-HT-7468-01A-11D-2024-08	32839732	122768985	36369678	13	26369											
BRSK2	9024	broad.mit.edu	37	11	1477639	1477639	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7468-01A-11D-2024-08	TCGA-HT-7468-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	053517e5-fb21-4127-b893-bdda23e4de42	219554d7-3116-498e-8f48-05286e616cc7	g.chr11:1477639C>T	ENST00000308219.9	+	17	2116	c.1730C>T	c.(1729-1731)aCg>aTg	p.T577M	BRSK2_ENST00000308230.5_Missense_Mutation_p.T599M|BRSK2_ENST00000544817.1_Missense_Mutation_p.T272M|BRSK2_ENST00000526678.1_Missense_Mutation_p.T599M|BRSK2_ENST00000382179.1_Missense_Mutation_p.T623M|BRSK2_ENST00000531197.1_Missense_Mutation_p.T577M|BRSK2_ENST00000528841.1_Missense_Mutation_p.T577M|BRSK2_ENST00000528710.1_Missense_Mutation_p.T517M	NM_001256627.1|NM_003957.3	NP_001243556.1|NP_003948.2	Q8IWQ3	BRSK2_HUMAN	BR serine/threonine kinase 2	577					establishment of cell polarity|neuron differentiation		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			endometrium(4)|large_intestine(1)|lung(5)	10		all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00144)|Lung(200;0.0713)|LUSC - Lung squamous cell carcinoma(625;0.0842)		TACAAGGCCACGGGGGGGCCA	0.622													4	13					0	0	0.009096	0	0	T	1477639	C	T	1477639	3	4	229	1	0	0	0	0	1	0	0	0	1526	536	19	1	1796	1	BRSK2	11	1477639	Missense_Mutation	SNP	C	TCGA-HT-7468-01A-11D-2024-08		1477639	133528877	14	26370											
RPGRIP1	57096	broad.mit.edu	37	14	21792899	21792899	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7468-01A-11D-2024-08	TCGA-HT-7468-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	053517e5-fb21-4127-b893-bdda23e4de42	219554d7-3116-498e-8f48-05286e616cc7	g.chr14:21792899G>A	ENST00000206660.6	+	14	1885	c.1885G>A	c.(1885-1887)Gaa>Aaa	p.E629K	RPGRIP1_ENST00000553500.1_Intron|RPGRIP1_ENST00000556336.1_Intron|RPGRIP1_ENST00000400017.2_Missense_Mutation_p.E629K|RPGRIP1_ENST00000557771.1_Missense_Mutation_p.E591K|RPGRIP1_ENST00000307974.4_Intron|RPGRIP1_ENST00000382933.4_Intron			Q96KN7	RPGR1_HUMAN	retinitis pigmentosa GTPase regulator interacting protein 1	629					response to stimulus|visual perception	cilium				breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		GAATCTTTTTGAACTGCACAT	0.498													5	94					0	0	0.014758	0	0	A	21792899	G	A	21792899	3	1	229	1	0	0	0	0	1	0	0	0	13601	1291	45	2	1939	2	RPGRIP1	14	21792899	Missense_Mutation	SNP	G	TCGA-HT-7468-01A-11D-2024-08		21792899	85556641	15	26371											
C17orf53	78995	broad.mit.edu	37	17	42225428	42225428	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7468-01A-11D-2024-08	TCGA-HT-7468-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	053517e5-fb21-4127-b893-bdda23e4de42	219554d7-3116-498e-8f48-05286e616cc7	g.chr17:42225428C>T	ENST00000319977.4	+	3	494	c.257C>T	c.(256-258)aCg>aTg	p.T86M	C17orf53_ENST00000245382.6_Missense_Mutation_p.T86M|C17orf53_ENST00000585683.1_Missense_Mutation_p.T86M	NM_001171251.1|NM_024032.3	NP_001164722.1|NP_076937.2	Q8N3J3	CQ053_HUMAN	chromosome 17 open reading frame 53	86										NS(1)|breast(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	22		Breast(137;0.0364)|Prostate(33;0.0376)		BRCA - Breast invasive adenocarcinoma(366;0.114)		GCCTCCAGCACGCCCAGTGCT	0.602													39	66					0	0	0.00874	0	0	T	42225428	C	T	42225428	3	4	229	1	0	0	0	0	1	0	0	0	1871	536	19	1	267	1	C17orf53	17	42225428	Missense_Mutation	SNP	C	TCGA-HT-7468-01A-11D-2024-08		42225428	38969782	16	26372											
JAK3	3718	broad.mit.edu	37	19	17945744	17945744	+	Missense_Mutation	SNP	C	C	A			TCGA-HT-7468-01A-11D-2024-08	TCGA-HT-7468-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	053517e5-fb21-4127-b893-bdda23e4de42	219554d7-3116-498e-8f48-05286e616cc7	g.chr19:17945744C>A	ENST00000458235.1	-	16	2215	c.2116G>T	c.(2116-2118)Gct>Tct	p.A706S	JAK3_ENST00000527670.1_Missense_Mutation_p.A706S|JAK3_ENST00000534444.1_Missense_Mutation_p.A706S	NM_000215.3	NP_000206.2	P52333	JAK3_HUMAN	Janus kinase 3	706	Protein kinase 1.				B cell differentiation|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of dendritic cell cytokine production|negative regulation of FasL biosynthetic process|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of T-helper 1 cell differentiation|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9|T cell homeostasis	cytoskeleton|cytosol|endomembrane system|membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147						CACTTGTCAGCTTCCAAGCTA	0.617		2	Mis		"acute megakaryocytic leukemia, ETP ALL"								27	37					1.77063e-15	1.97494e-15	0.027356	1	0	A	17945744	C	A	17945744	3	1	229	1	0	0	0	0	1	0	0	0	7983	797	28	4	1294	4	JAK3	19	17945744	Missense_Mutation	SNP	C	TCGA-HT-7468-01A-11D-2024-08		17945744	41183239	17	26373											
CIC	23152	broad.mit.edu	37	19	42791757	42791757	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7468-01A-11D-2024-08	TCGA-HT-7468-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	053517e5-fb21-4127-b893-bdda23e4de42	219554d7-3116-498e-8f48-05286e616cc7	g.chr19:42791757C>T	ENST00000572681.2	+	6	3438	c.3370C>T	c.(3370-3372)Cgg>Tgg	p.R1124W	CIC_ENST00000160740.3_Missense_Mutation_p.R215W|CIC_ENST00000575354.2_Missense_Mutation_p.R215W			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	215	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	p.R215W(4)		autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CAAGCGGCACCGGGCCCTGGT	0.612			"Mis, F, S"		oligodendroglioma								34	13					0	0	0.017118	0	0	T	42791757	C	T	42791757	3	4	229	1	0	0	0	0	1	0	0	0	3446	643	23	1	661	1	CIC	19	42791757	Missense_Mutation	SNP	C	TCGA-HT-7468-01A-11D-2024-08	24846013	42791757	16337226	18	26374											
BAGE2	85319	broad.mit.edu	37	21	11039406	11039406	+	RNA	SNP	T	T	C	rs8134740	by1000genomes	TCGA-HT-7468-01A-11D-2024-08	TCGA-HT-7468-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	053517e5-fb21-4127-b893-bdda23e4de42	219554d7-3116-498e-8f48-05286e616cc7	g.chr21:11039406T>C	ENST00000470054.1	-	0	797									B melanoma antigen family, member 2															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)		TCATTAGAAATCTGTTTTTCC	0.299													13	128					0	0	0.013537	0	0	C	11039406	T	C	11039406	1	2	229	0	1	0	0	0	0	0	0	0	1290	1450	50	3		3	BAGE2	21	11039406	RNA	SNP	T	TCGA-HT-7468-01A-11D-2024-08		11039406	37090489	19	26375											
CECR2	27443	broad.mit.edu	37	22	18028150	18028150	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7468-01A-11D-2024-08	TCGA-HT-7468-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	053517e5-fb21-4127-b893-bdda23e4de42	219554d7-3116-498e-8f48-05286e616cc7	g.chr22:18028150T>C	ENST00000400573.5	+	17	3114	c.3107T>C	c.(3106-3108)aTt>aCt	p.I1036T	CECR2_ENST00000262608.8_Missense_Mutation_p.I1037T|CECR2_ENST00000400585.2_Missense_Mutation_p.I894T			Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2						chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport		protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		AACGGAGTCATTGGGGAAGCA	0.622													3	32					0	0	0.004672	0	0	C	18028150	T	C	18028150	3	2	229	1	0	0	0	0	1	0	0	0	3228	1493	52	3	3171	3	CECR2	22	18028150	Missense_Mutation	SNP	T	TCGA-HT-7468-01A-11D-2024-08		18028150	33276416	20	26376											
CCDC30	728621	broad.mit.edu	37	1	43032078	43032078	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr1:43032078C>T	ENST00000428554.2	+	13	1930	c.787C>T	c.(787-789)Cga>Tga	p.R263*	CCDC30_ENST00000390640.4_Nonsense_Mutation_p.R52*|CCDC30_ENST00000342022.4_Nonsense_Mutation_p.R263*|CCDC30_ENST00000507855.1_Nonsense_Mutation_p.R52*|CCDC30_ENST00000340612.4_Nonsense_Mutation_p.R263*			Q5VVM6	CCD30_HUMAN	coiled-coil domain containing 30	263								p.R263*(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	30						AAATGAGCTTCGATATGAACG	0.408													33	56					0	0	1	0	0	T	43032078	C	T	43032078	4	4	230	1	0	0	0	0	0	1	0	0	2824	876	31	1	805	1	CCDC30	1	43032078	Nonsense_Mutation	SNP	C	TCGA-HT-7469-01A-11D-2253-08		43032078	206218543	1	26377											
SYCP1	6847	broad.mit.edu	37	1	115401230	115401230	+	Silent	SNP	A	A	G			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr1:115401230A>G	ENST00000369522.3	+	6	594	c.354A>G	c.(352-354)aaA>aaG	p.K118K	SYCP1_ENST00000369518.1_Silent_p.K118K	NM_001282541.1|NM_003176.2	NP_001269470.1|NP_003167.2	Q15431	SYCP1_HUMAN	synaptonemal complex protein 1	118					cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding		RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		AGATAAAAAAATGGAAAGTAA	0.328													15	59					0	0	1	0	0	G	115401230	A	G	115401230	2	3	230	1	0	0	0	0	0	0	0	1	15488	98	4	3		3	SYCP1	1	115401230	Silent	SNP	A	TCGA-HT-7469-01A-11D-2253-08	72369152	115401230	133849391	2	26378											
MEX3A	92312	broad.mit.edu	37	1	156046687	156046689	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr1:156046687_156046689delGAG	ENST00000532414.2	-	2	1238_1240	c.1239_1241delCTC	c.(1237-1242)tcctct>tct	p.413_414SS>S		NM_001093725.1	NP_001087194.1	A1L020	MEX3A_HUMAN	mex-3 RNA binding family member A	413	Poly-Ser.					cytoplasmic mRNA processing body|nucleus	RNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)	9	Hepatocellular(266;0.158)|all_neural(408;0.195)					CTTGGCggaagaggaggaggagg	0.744													2	4	---	---	---	---						-	156046689	GAG	-	156046687	7	5	230	1	0	1	0	1	0	0	0	0	9559	942	33	0	325	0	MEX3A	1	156046687	In_Frame_Del	DEL	GAG	TCGA-HT-7469-01A-11D-2253-08	40645457	156046687	93203934	3	26379											
H3F3A	3020	broad.mit.edu	37	1	226252155	226252155	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr1:226252155G>A	ENST00000366814.3	+	2	224	c.103G>A	c.(103-105)Ggg>Agg	p.G35R	H3F3A_ENST00000366815.3_Missense_Mutation_p.G35R|H3F3A_ENST00000366816.1_Missense_Mutation_p.G35R|H3F3A_ENST00000366813.1_Missense_Mutation_p.G35R					H3 histone, family 3A									p.G35R(11)		central_nervous_system(116)|endometrium(2)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	123	Breast(184;0.179)			GBM - Glioblastoma multiforme(131;0.203)		CTCTACTGGAGGGGTGAAGAA	0.458			Mis		glioma						OREG0014293	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	21					0	0	1	0	0	A	226252155	G	A	226252155	3	1	230	1	0	0	0	0	1	0	0	0	6974	1000	35	2	105	2	H3F3A	1	226252155	Missense_Mutation	SNP	G	TCGA-HT-7469-01A-11D-2253-08	70205468	226252155	22998466	4	26380											
UCN	7349	broad.mit.edu	37	2	27530455	27530455	+	Silent	SNP	C	C	T			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr2:27530455C>T	ENST00000296099.2	-	2	607	c.309G>A	c.(307-309)gcG>gcA	p.A103A		NM_003353.2	NP_003344.1	P55089	UCN1_HUMAN	urocortin	103						extracellular region	neuropeptide hormone activity			lung(1)|skin(1)	2	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCTGCGTCCGCGCCAGCTCCA	0.662													11	39					0	0	1	0	0	T	27530455	C	T	27530455	2	4	230	1	0	0	0	0	0	0	0	1	16987	755	27	1		1	UCN	2	27530455	Silent	SNP	C	TCGA-HT-7469-01A-11D-2253-08		27530455	215668918	5	26381											
IL1RL2	8808	broad.mit.edu	37	2	102818122	102818122	+	Missense_Mutation	SNP	T	T	G			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr2:102818122T>G	ENST00000264257.2	+	5	722	c.596T>G	c.(595-597)cTg>cGg	p.L199R	IL1RL2_ENST00000481806.1_3'UTR|IL1RL2_ENST00000539491.1_Missense_Mutation_p.L199R|IL1RL2_ENST00000441515.2_Missense_Mutation_p.L82R	NM_003854.2	NP_003845.2	Q9HB29	ILRL2_HUMAN	interleukin 1 receptor-like 2	199	Ig-like C2-type 2.				cellular defense response|innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|liver(2)|lung(8)|ovary(2)|prostate(1)	26						CAAGCCATACTGACACACTCA	0.478													25	26					0	0	1	0	0	G	102818122	T	G	102818122	3	3	230	1	0	0	0	0	1	0	0	0	7708	1580	55	5	610	5	IL1RL2	2	102818122	Missense_Mutation	SNP	T	TCGA-HT-7469-01A-11D-2253-08	75287667	102818122	140381251	6	26382											
EDAR	10913	broad.mit.edu	37	2	109547447	109547447	+	Silent	SNP	C	C	T			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr2:109547447C>T	ENST00000409271.1	-	3	467	c.24G>A	c.(22-24)acG>acA	p.T8T	EDAR_ENST00000376651.1_Silent_p.T8T|EDAR_ENST00000258443.2_Silent_p.T8T			Q9UNE0	EDAR_HUMAN	ectodysplasin A receptor	8					apoptosis|cell differentiation	integral to membrane	protein binding|transmembrane receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16						AGGGCGTCTGCGTGCAGTCCC	0.627													30	87					0	0	1	0	0	T	109547447	C	T	109547447	2	4	230	1	0	0	0	0	0	0	0	1	4931	755	27	1		1	EDAR	2	109547447	Silent	SNP	C	TCGA-HT-7469-01A-11D-2253-08	6729325	109547447	133651926	7	26383											
TMEFF2	23671	broad.mit.edu	37	2	192922465	192922465	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr2:192922465G>T	ENST00000392314.1	-	5	867	c.476C>A	c.(475-477)aCa>aAa	p.T159K	TMEFF2_ENST00000272771.5_Missense_Mutation_p.T159K			Q9UIK5	TEFF2_HUMAN	transmembrane protein with EGF-like and two follistatin-like domains 2	159						extracellular region|integral to membrane				breast(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(12)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(117;0.0835)			ACAGGTGGATGTCTCCTTTTG	0.388													32	91					7.53189e-24	7.76727e-24	1	1	0	T	192922465	G	T	192922465	3	4	230	1	0	0	0	0	1	0	0	0	16074	1377	48	5	672	5	TMEFF2	2	192922465	Missense_Mutation	SNP	G	TCGA-HT-7469-01A-11D-2253-08	83375018	192922465	50276908	8	26384											
HYAL1	3373	broad.mit.edu	37	3	50337931	50337931	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr3:50337931G>A	ENST00000266031.4	-	3	1906	c.1291C>T	c.(1291-1293)Cgg>Tgg	p.R431W	HYAL1_ENST00000395144.2_Missense_Mutation_p.R431W|HYAL1_ENST00000457214.2_Missense_Mutation_p.R249W|HYAL1_ENST00000447605.2_Missense_Mutation_p.R172W|HYAL1_ENST00000320295.8_Missense_Mutation_p.R431W|HYAL1_ENST00000395143.2_Missense_Mutation_p.R401W			Q12794	HYAL1_HUMAN	hyaluronoglucosaminidase 1	431						extracellular space|lysosome	hyalurononglucosaminidase activity			cervix(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)	Hyaluronidase(DB00070)	ATGCTCTTCCGCTCACACCAC	0.552													3	106					0	0	1	0	0	A	50337931	G	A	50337931	3	1	230	1	0	0	0	0	1	0	0	0	7507	1086	38	1	20	1	HYAL1	3	50337931	Missense_Mutation	SNP	G	TCGA-HT-7469-01A-11D-2253-08		50337931	147684499	9	26385											
OR5H15	403274	broad.mit.edu	37	3	97887873	97887873	+	Silent	SNP	A	A	T			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr3:97887873A>T	ENST00000356526.2	+	1	330	c.330A>T	c.(328-330)acA>acT	p.T110T		NM_001005515.1	NP_001005515.1	A6NDH6	O5H15_HUMAN	olfactory receptor, family 5, subfamily H, member 15	110					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(2)|stomach(1)	35						GCGTAACCACAGAATGTTTTC	0.398													4	87					0	0	1	0	0	T	97887873	A	T	97887873	2	4	230	1	0	0	0	0	0	0	0	1	11208	175	7	5		5	OR5H15	3	97887873	Silent	SNP	A	TCGA-HT-7469-01A-11D-2253-08	47549942	97887873	100134557	10	26386											
P2RY12	64805	broad.mit.edu	37	3	151055882	151055882	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr3:151055882G>A	ENST00000302632.3	-	3	1051	c.752C>T	c.(751-753)cCt>cTt	p.P251L	MED12L_ENST00000491549.1_Intron|MED12L_ENST00000474524.1_Intron|MED12L_ENST00000273432.4_Intron	NM_022788.4|NM_176876.2	NP_073625.1|NP_795345.1	Q9H244	P2Y12_HUMAN	purinergic receptor P2Y, G-protein coupled, 12	251					platelet activation	integral to membrane|plasma membrane	guanyl-nucleotide exchange factor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)	17			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		Clopidogrel(DB00758)|Epoprostenol(DB01240)|Ticlopidine(DB00208)|Treprostinil(DB00374)	AAAATGGAAAGGAACAAAACA	0.428													3	34					0	0	1	0	0	A	151055882	G	A	151055882	3	1	230	1	0	0	0	0	1	0	0	0	11396	1000	35	2	280	2	P2RY12	3	151055882	Missense_Mutation	SNP	G	TCGA-HT-7469-01A-11D-2253-08	53168009	151055882	46966548	11	26387											
TLR1	7096	broad.mit.edu	37	4	38799739	38799739	+	Silent	SNP	C	C	T	rs146940675		TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr4:38799739C>T	ENST00000308979.2	-	4	987	c.714G>A	c.(712-714)gcG>gcA	p.A238A	TLR1_ENST00000502213.2_Silent_p.A238A	NM_003263.3	NP_003254.2	Q15399	TLR1_HUMAN	toll-like receptor 1	238					cellular response to triacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|inflammatory response|innate immune response|macrophage activation|positive regulation of interleukin-6 biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	integral to plasma membrane|phagocytic vesicle membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex	protein heterodimerization activity|transmembrane receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(2)	28						TTTGAAGTTTCGCCAGAATAC	0.343													8	32					0	0	1	0	0	T	38799739	C	T	38799739	2	4	230	1	0	0	0	0	0	0	0	1	16009	871	31	1		1	TLR1	4	38799739	Silent	SNP	C	TCGA-HT-7469-01A-11D-2253-08		38799739	152354537	12	26388											
SHISA3	152573	broad.mit.edu	37	4	42403175	42403178	+	Frame_Shift_Del	DEL	CAGA	CAGA	-			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr4:42403175_42403178delCAGA	ENST00000319234.4	+	2	642_645	c.424_427delCAGA	c.(424-429)cagacafs	p.QT142fs		NM_001080505.1	NP_001073974.1	A0PJX4	SHSA3_HUMAN	shisa family member 3	142					multicellular organismal development	endoplasmic reticulum membrane|integral to membrane				endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	12						CCGCAGCTATCAGACAGAGACCCT	0.608													10	519	---	---	---	---						-	42403178	CAGA	-	42403175	7	5	230	1	0	1	0	1	0	0	0	0	14336	827	29	0	430	0	SHISA3	4	42403175	Frame_Shift_Del	DEL	CAGA	TCGA-HT-7469-01A-11D-2253-08	3603436	42403175	148751101	13	26389											
PDGFRA	5156	broad.mit.edu	37	4	55131206	55131206	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr4:55131206C>T	ENST00000257290.5	+	5	1080	c.749C>T	c.(748-750)cCt>cTt	p.P250L	PDGFRA_ENST00000508170.1_3'UTR|FIP1L1_ENST00000507166.1_Intron	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	250	Ig-like C2-type 3.				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	TGGACTTACCCTGGAGAAGTG	0.488			"Mis, O, T"	FIP1L1	"GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			33	80					0	0	1	0	0	T	55131206	C	T	55131206	3	4	230	1	0	0	0	0	1	0	0	0	11708	681	24	2	763	2	PDGFRA	4	55131206	Missense_Mutation	SNP	C	TCGA-HT-7469-01A-11D-2253-08	12728031	55131206	136023070	14	26390											
PDGFRA	5156	broad.mit.edu	37	4	55133717	55133720	+	Splice_Site	DEL	AGAG	AGAG	-			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr4:55133717_55133720delAGAG	ENST00000257290.5	+	7	1262_1264	c.931_933delAGAG	c.(931-933)agadel	p.R311fs	FIP1L1_ENST00000507166.1_Intron	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	311					cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	TTCCCTGTACAGAGAAAGGTTTCA	0.441			"Mis, O, T"	FIP1L1	"GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			22	92	---	---	---	---						-	55133720	AGAG	-	55133717	8	5	230	1	0	1	0	1	0	0	1	0	11708	202	7	0	952	0	PDGFRA	4	55133717	Splice_Site	DEL	AGAG	TCGA-HT-7469-01A-11D-2253-08	2511	55133717	136020559	15	26391											
FSTL5	56884	broad.mit.edu	37	4	162697149	162697149	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr4:162697149G>A	ENST00000306100.5	-	5	923	c.487C>T	c.(487-489)Caa>Taa	p.Q163*	FSTL5_ENST00000536695.1_Nonsense_Mutation_p.Q162*|FSTL5_ENST00000427802.2_Nonsense_Mutation_p.Q162*|FSTL5_ENST00000379164.4_Nonsense_Mutation_p.Q162*	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	163						extracellular region	calcium ion binding			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		TCATTTTCTTGCATAATATAT	0.308													12	19					0	0	1	0	0	A	162697149	G	A	162697149	4	1	230	1	0	0	0	0	0	1	0	0	6115	1328	46	2	2104	2	FSTL5	4	162697149	Nonsense_Mutation	SNP	G	TCGA-HT-7469-01A-11D-2253-08	107563432	162697149	28457127	16	26392											
MCTP1	79772	broad.mit.edu	37	5	94248540	94248540	+	Silent	SNP	G	G	T			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr5:94248540G>T	ENST00000515393.1	-	9	1491	c.1492C>A	c.(1492-1494)Cgg>Agg	p.R498R	MCTP1_ENST00000505078.1_Silent_p.R14R|MCTP1_ENST00000429576.2_Silent_p.R231R|MCTP1_ENST00000312216.8_Silent_p.R277R|MCTP1_ENST00000505208.1_Silent_p.R277R	NM_024717.4	NP_078993.4	Q6DN14	MCTP1_HUMAN	multiple C2 domains, transmembrane 1	498	C2 2.				calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	41		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)		all cancers(79;9.1e-17)		TGCCCAAGCCGGAACTTCACG	0.473													22	72					1.64293e-13	1.66821e-13	1	1	0	T	94248540	G	T	94248540	2	4	230	1	0	0	0	0	0	0	0	1	9450	1115	39	5		5	MCTP1	5	94248540	Silent	SNP	G	TCGA-HT-7469-01A-11D-2253-08		94248540	86666720	17	26393											
T	6862	broad.mit.edu	37	6	166579237	166579237	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr6:166579237G>A	ENST00000296946.2	-	4	1031	c.563C>T	c.(562-564)cCt>cTt	p.P188L	T_ENST00000366871.3_Missense_Mutation_p.P188L	NM_003181.3	NP_003172.1	O15178	BRAC_HUMAN	T, brachyury homolog (mouse)	188					anterior/posterior axis specification, embryo|mesoderm development|primitive streak formation	nucleus	sequence-specific DNA binding transcription factor activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Prostate(117;4.48e-07)|Ovarian(120;1.78e-06)|Breast(66;2.54e-06)|Lung SC(201;0.0225)|Esophageal squamous(34;0.0559)		OV - Ovarian serous cystadenocarcinoma(33;1.09e-113)|GBM - Glioblastoma multiforme(31;1.51e-108)|BRCA - Breast invasive adenocarcinoma(81;8.45e-09)|LUAD - Lung adenocarcinoma(999;0.0407)		CTGGGTCTCAGGGAAGCAGTG	0.557									Chordoma, Familial Clustering of				66	296					0	0	1	0	0	A	166579237	G	A	166579237	3	1	230	1	0	0	0	0	1	0	0	0	15545	1000	35	2	768	2	T	6	166579237	Missense_Mutation	SNP	G	TCGA-HT-7469-01A-11D-2253-08		166579237	4535830	18	26394											
POR	5447	broad.mit.edu	37	7	75601767	75601767	+	Translation_Start_Site	SNP	G	G	A			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr7:75601767G>A	ENST00000419840.1	+	0	307				POR_ENST00000461988.1_Silent_p.K75K|POR_ENST00000475509.1_3'UTR|POR_ENST00000394893.1_Silent_p.K75K			P16435	NCPR_HUMAN	P450 (cytochrome) oxidoreductase						cellular organofluorine metabolic process|positive regulation of monooxygenase activity	endoplasmic reticulum membrane	iron ion binding|NADPH-hemoprotein reductase activity			central_nervous_system(1)|endometrium(2)|kidney(2)|lung(3)|ovary(1)	9					Benzphetamine(DB00865)|Daunorubicin(DB00694)|Lipoic Acid(DB00166)|Menadione(DB00170)|Methoxyflurane(DB01028)|Mitomycin(DB00305)|Nilutamide(DB00665)	TTGTGGAAAAGATGAAGAAAA	0.537											OREG0018131	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	7					0	0	1	0	0	A	75601767	G	A	75601767	1	1	230	1	0	0	0	0	0	0	0	0	12305	933	33	2		2	POR	7	75601767	Translation_Start_Site	SNP	G	TCGA-HT-7469-01A-11D-2253-08		75601767	83536896	19	26395											
SLC26A4	5172	broad.mit.edu	37	7	107312689	107312692	+	Splice_Site	DEL	AGTT	AGTT	-	rs111033199		TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr7:107312689_107312692delAGTT	ENST00000265715.3	+	4	635_638	c.411_414delAGTT	c.(409-414)tcagtt>tc	p.SV137fs		NM_000441.1	NP_000432.1	O43511	S26A4_HUMAN	solute carrier family 26 (anion exchanger), member 4	137			S -> P (in PDS).		regulation of pH|regulation of protein localization|sensory perception of sound	apical plasma membrane|integral to membrane	chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity			central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						GACATATCTCAGTTGGTAATTATA	0.338									Pendred syndrome				14	57	---	---	---	---						-	107312692	AGTT	-	107312689	8	5	230	1	0	1	0	1	0	0	1	0	14574	175	7	0	421	0	SLC26A4	7	107312689	Splice_Site	DEL	AGTT	TCGA-HT-7469-01A-11D-2253-08	31710922	107312689	51825974	20	26396											
HR	55806	broad.mit.edu	37	8	21982885	21982885	+	Silent	SNP	C	C	T			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr8:21982885C>T	ENST00000381418.4	-	5	3169	c.1689G>A	c.(1687-1689)ggG>ggA	p.G563G	HR_ENST00000312841.8_Silent_p.G563G	NM_005144.4	NP_005135.2	O43593	HAIR_HUMAN	hair growth associated	563							DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	27		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		ACAGTCGGTCCCCCAAACCAC	0.677													4	6					0	0	1	0	0	T	21982885	C	T	21982885	2	4	230	1	0	0	0	0	0	0	0	1	7388	610	22	2		2	HR	8	21982885	Silent	SNP	C	TCGA-HT-7469-01A-11D-2253-08		21982885	124381137	21	26397											
SLC20A2	6575	broad.mit.edu	37	8	42287600	42287600	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr8:42287600G>A	ENST00000342228.3	-	9	2060	c.1691C>T	c.(1690-1692)aCt>aTt	p.T564I	SLC20A2_ENST00000520179.1_Missense_Mutation_p.T564I|SLC20A2_ENST00000520262.1_Missense_Mutation_p.T564I	NM_006749.4	NP_006740.1	Q08357	S20A2_HUMAN	solute carrier family 20 (phosphate transporter), member 2	564					interspecies interaction between organisms	integral to plasma membrane|membrane fraction	inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity			breast(1)|endometrium(6)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|stomach(1)	26	all_lung(13;8.33e-12)|Lung NSC(13;1.41e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	BRCA - Breast invasive adenocarcinoma(8;5.73e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00419)|Lung(22;0.0302)|LUSC - Lung squamous cell carcinoma(45;0.0869)			CGTGATGGGAGTGAGGTCCTT	0.612													3	64					0	0	1	0	0	A	42287600	G	A	42287600	3	1	230	1	0	0	0	0	1	0	0	0	14494	1029	36	2	279	2	SLC20A2	8	42287600	Missense_Mutation	SNP	G	TCGA-HT-7469-01A-11D-2253-08	20304715	42287600	104076422	22	26398											
PPP1R16A	84988	broad.mit.edu	37	8	145727173	145727174	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr8:145727173_145727174insC	ENST00000292539.4	+	11	2391_2392	c.1474_1475insC	c.(1474-1476)accfs	p.T492fs	PPP1R16A_ENST00000435887.1_Frame_Shift_Ins_p.T492fs			Q96I34	PP16A_HUMAN	protein phosphatase 1, regulatory subunit 16A	492						plasma membrane	protein binding			NS(1)|endometrium(1)|kidney(2)|lung(3)|prostate(1)	8	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-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;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			TGACACGGTGACCCCCCAGCCT	0.713													2	4	---	---	---	---						C	145727174	-	C	145727173	7	5	230	1	0	1	1	0	0	0	0	0	12414	275	10	0	1512	0	PPP1R16A	8	145727173	Frame_Shift_Ins	INS	-	TCGA-HT-7469-01A-11D-2253-08	103439573	145727173	636849	23	26399											
RLN1	6013	broad.mit.edu	37	9	5339680	5339680	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr9:5339680C>G	ENST00000223858.4	-	1	193	c.67G>C	c.(67-69)Gtc>Ctc	p.V23L	RLN1_ENST00000223862.1_Missense_Mutation_p.V23L			P04808	REL1_HUMAN	relaxin 1	23					female pregnancy|signal transduction	extracellular region	hormone activity			large_intestine(1)|lung(4)	5	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.02)|Lung(218;0.0984)		TTGGCCGCGACTGCTCTGGAA	0.517													6	106					0	0	1	0	0	G	5339680	C	G	5339680	3	3	230	1	0	0	0	0	1	0	0	0	13443	565	20	4	498	4	RLN1	9	5339680	Missense_Mutation	SNP	C	TCGA-HT-7469-01A-11D-2253-08		5339680	135873751	24	26400											
UNC13B	10497	broad.mit.edu	37	9	35381621	35381621	+	Silent	SNP	C	C	T			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr9:35381621C>T	ENST00000378495.3	+	19	2535	c.2313C>T	c.(2311-2313)gaC>gaT	p.D771D	UNC13B_ENST00000378496.4_Silent_p.D771D|UNC13B_ENST00000396787.1_Silent_p.D783D	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	unc-13 homolog B (C. elegans)	771					excretion|induction of apoptosis|intracellular signal transduction	cell junction|Golgi apparatus|synapse	metal ion binding|receptor activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			CTCGAGGAGACGATGCCTGGA	0.498													4	112					0	0	1	0	0	T	35381621	C	T	35381621	2	4	230	1	0	0	0	0	0	0	0	1	17045	535	19	1		1	UNC13B	9	35381621	Silent	SNP	C	TCGA-HT-7469-01A-11D-2253-08	30041941	35381621	105831810	25	26401											
PRKCQ	5588	broad.mit.edu	37	10	6527130	6527130	+	Silent	SNP	C	C	T			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr10:6527130C>T	ENST00000263125.5	-	10	1101	c.1002G>A	c.(1000-1002)ccG>ccA	p.P334P	PRKCQ_ENST00000397176.2_Silent_p.P334P|PRKCQ_ENST00000539722.1_Silent_p.P209P	NM_001282644.1|NM_006257.3	NP_001269573.1|NP_006248.1	Q04759	KPCT_HUMAN	protein kinase C, theta	334					axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth|T cell receptor signaling pathway	cytosol	ATP binding|metal ion binding|protein binding|protein kinase C activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2)	45						TTCCCGGTGTCGGTAAACATG	0.443													6	193					0	0	1	0	0	T	6527130	C	T	6527130	2	4	230	1	0	0	0	0	0	0	0	1	12567	871	31	1		1	PRKCQ	10	6527130	Silent	SNP	C	TCGA-HT-7469-01A-11D-2253-08		6527130	129007617	26	26402											
FRMD4A	55691	broad.mit.edu	37	10	13825006	13825006	+	Splice_Site	SNP	C	C	T			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr10:13825006C>T	ENST00000357447.2	-	6	668	c.300G>A	c.(298-300)agG>agA	p.R100R	FRMD4A_ENST00000358621.4_Splice_Site_p.R85R|FRMD4A_ENST00000378503.1_Splice_Site_p.R100R|FRMD4A_ENST00000342409.2_Splice_Site_p.R116R	NM_018027.3	NP_060497.3	Q9P2Q2	FRM4A_HUMAN	FERM domain containing 4A	100	FERM.					cytoplasm|cytoskeleton	binding			breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						CTATATAGAACCTGAAAGAGA	0.428													37	55					0	0	1	0	0	T	13825006	C	T	13825006	5	4	230	1	0	0	0	0	0	0	1	0	6086	521	18	2	2895	2	FRMD4A	10	13825006	Splice_Site	SNP	C	TCGA-HT-7469-01A-11D-2253-08	7297876	13825006	121709741	27	26403											
AFAP1L2	84632	broad.mit.edu	37	10	116060060	116060060	+	Missense_Mutation	SNP	G	G	A	rs144011687	byFrequency	TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr10:116060060G>A	ENST00000369271.3	-	15	2150	c.1850C>T	c.(1849-1851)aCg>aTg	p.T617M	AFAP1L2_ENST00000304129.4_Missense_Mutation_p.T617M|AFAP1L2_ENST00000491814.1_5'UTR|AFAP1L2_ENST00000545353.1_Missense_Mutation_p.T670M	NM_001001936.1|NM_032550.2	NP_001001936.1|NP_115939.1	Q8N4X5	AF1L2_HUMAN	actin filament associated protein 1-like 2	617					inflammatory response|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of transcription, DNA-dependent|regulation of interleukin-6 production|regulation of mitotic cell cycle	cytoplasm	protein tyrosine kinase activator activity|SH2 domain binding|SH3 domain binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|prostate(2)	21		Colorectal(252;0.175)|Breast(234;0.231)		Epithelial(162;0.0219)|all cancers(201;0.0561)		CTGCTGTTCCGTCTGGATTTT	0.607													15	148					0	0	1	0	0	A	116060060	G	A	116060060	3	1	230	1	0	0	0	0	1	0	0	0	354	1145	40	1	626	1	AFAP1L2	10	116060060	Missense_Mutation	SNP	G	TCGA-HT-7469-01A-11D-2253-08	102235054	116060060	19474687	28	26404											
OR8B4	283162	broad.mit.edu	37	11	124294595	124294595	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr11:124294595G>A	ENST00000356130.3	-	1	194	c.173C>T	c.(172-174)cCc>cTc	p.P58L		NM_001005196.1	NP_001005196.1	Q96RC9	OR8B4_HUMAN	olfactory receptor, family 8, subfamily B, member 4	58					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(1)|urinary_tract(1)	32		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		AAAGTACATGGGGGTGTGAAG	0.413													27	50					0	0	1	0	0	A	124294595	G	A	124294595	3	1	230	1	0	0	0	0	1	0	0	0	11276	1232	43	2	758	2	OR8B4	11	124294595	Missense_Mutation	SNP	G	TCGA-HT-7469-01A-11D-2253-08		124294595	10711921	29	26405											
MYF5	4617	broad.mit.edu	37	12	81110845	81110845	+	Translation_Start_Site	SNP	G	G	A			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr12:81110845G>A	ENST00000228644.3	+	1	155	c.3G>A	c.(1-3)atG>atA	p.M1I		NM_005593.2	NP_005584.2	P13349	MYF5_HUMAN	myogenic factor 5	1					muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1)	30						TCAGCAGGATGGACGTGATGG	0.642													28	49					0	0	1	0	0	A	81110845	G	A	81110845	1	1	230	1	0	0	0	0	0	0	0	0	10075	1348	47	2		2	MYF5	12	81110845	Translation_Start_Site	SNP	G	TCGA-HT-7469-01A-11D-2253-08		81110845	52741050	30	26406											
MYL2	4633	broad.mit.edu	37	12	111348957	111348957	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr12:111348957A>G	ENST00000228841.8	-	7	472	c.425T>C	c.(424-426)tTc>tCc	p.F142S	MYL2_ENST00000548438.1_Missense_Mutation_p.F128S	NM_000432.3	NP_000423.2	P10916	MLRV_HUMAN	myosin, light chain 2, regulatory, cardiac, slow	142	EF-hand 3.				cardiac myofibril assembly|heart contraction|muscle filament sliding|negative regulation of cell growth|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	cytosol|myosin complex|sarcomere	actin monomer binding|calcium ion binding|myosin heavy chain binding|structural constituent of muscle			endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)	12						GTCAGGGGGGAAGGCGGCGAA	0.632													4	235					0	0	1	0	0	G	111348957	A	G	111348957	3	3	230	1	0	0	0	0	1	0	0	0	10095	246	9	3	79	3	MYL2	12	111348957	Missense_Mutation	SNP	A	TCGA-HT-7469-01A-11D-2253-08	30238112	111348957	22502938	31	26407											
PCDH20	64881	broad.mit.edu	37	13	61986933	61986933	+	Silent	SNP	G	G	A			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr13:61986933G>A	ENST00000409186.1	-	5	3404	c.1299C>T	c.(1297-1299)aaC>aaT	p.N433N	PCDH20_ENST00000409204.4_Silent_p.N433N			Q8N6Y1	PCD20_HUMAN	protocadherin 20	406	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		CATCTATCTCGTTTGCTATGT	0.418													22	86					0	0	1	0	0	A	61986933	G	A	61986933	2	1	230	1	0	0	0	0	0	0	0	1	11562	1136	40	1		1	PCDH20	13	61986933	Silent	SNP	G	TCGA-HT-7469-01A-11D-2253-08		61986933	53182945	32	26408											
MYH6	4624	broad.mit.edu	37	14	23862627	23862627	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr14:23862627T>C	ENST00000405093.3	-	23	3099	c.3029A>G	c.(3028-3030)gAt>gGt	p.D1010G	MYH6_ENST00000356287.3_Missense_Mutation_p.D1010G	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	1010					adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		CTGAAGGTCATCCAGGGCCTG	0.512													56	53					0	0	1	0	0	C	23862627	T	C	23862627	3	2	230	1	0	0	0	0	1	0	0	0	10086	1435	50	3	2858	3	MYH6	14	23862627	Missense_Mutation	SNP	T	TCGA-HT-7469-01A-11D-2253-08		23862627	83486913	33	26409											
MGAT2	4247	broad.mit.edu	37	14	50089217	50089220	+	Frame_Shift_Del	DEL	CTAA	CTAA	-			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr14:50089217_50089220delCTAA	ENST00000305386.2	+	1	1729_1732	c.1231_1234delCTAA	c.(1231-1236)ctaactfs	p.LT411fs	RP11-649E7.5_ENST00000555043.1_RNA	NM_002408.3	NP_002399.1	Q10469	MGAT2_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase	411					oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|Golgi stack|integral to membrane|membrane fraction	alpha-1,6-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity			cervix(1)|endometrium(3)|large_intestine(1)|lung(6)	11	all_epithelial(31;0.0021)|Breast(41;0.0124)					TCCAGAAACTCTAACTATCAGTGA	0.392													29	47	---	---	---	---						-	50089220	CTAA	-	50089217	7	5	230	1	0	1	0	1	0	0	0	0	9593	912	32	0	1233	0	MGAT2	14	50089217	Frame_Shift_Del	DEL	CTAA	TCGA-HT-7469-01A-11D-2253-08	26226590	50089217	57260323	34	26410											
AHNAK2	113146	broad.mit.edu	37	14	105421333	105421333	+	Silent	SNP	G	G	A			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr14:105421333G>A	ENST00000333244.5	-	6	731	c.612C>T	c.(610-612)tcC>tcT	p.S204S		NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	204						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GGGCATCGCTGGAAGCCCACT	0.582													3	24					0	0	1	0	0	A	105421333	G	A	105421333	2	1	230	1	0	0	0	0	0	0	0	1	412	1335	47	2		2	AHNAK2	14	105421333	Silent	SNP	G	TCGA-HT-7469-01A-11D-2253-08	55332116	105421333	1928207	35	26411											
LRRC49	54839	broad.mit.edu	37	15	71300791	71300791	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr15:71300791G>A	ENST00000260382.5	+	12	1503	c.1243G>A	c.(1243-1245)Ggg>Agg	p.G415R	LRRC49_ENST00000436542.2_3'UTR|LRRC49_ENST00000544974.2_Missense_Mutation_p.G405R|LRRC49_ENST00000560158.2_Missense_Mutation_p.G103R|LRRC49_ENST00000560691.1_Missense_Mutation_p.G121R|LRRC49_ENST00000560369.1_Missense_Mutation_p.G420R|LRRC49_ENST00000443425.2_Missense_Mutation_p.G371R	NM_001199017.1|NM_017691.3	NP_001185946.1|NP_060161.2	Q8IUZ0	LRC49_HUMAN	leucine rich repeat containing 49	415						cytoplasm|microtubule				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(3)|skin(3)	34						TGAAGTGGACGGGGATACACT	0.418													3	61					0	0	1	0	0	A	71300791	G	A	71300791	3	1	230	1	0	0	0	0	1	0	0	0	9051	1116	39	1	1289	1	LRRC49	15	71300791	Missense_Mutation	SNP	G	TCGA-HT-7469-01A-11D-2253-08		71300791	31230601	36	26412											
TXNDC11	51061	broad.mit.edu	37	16	11785796	11785796	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr16:11785796G>A	ENST00000356957.3	-	9	1438	c.1331C>T	c.(1330-1332)aCg>aTg	p.T444M	TXNDC11_ENST00000283033.5_Missense_Mutation_p.T417M			Q6PKC3	TXD11_HUMAN	thioredoxin domain containing 11	444					cell redox homeostasis	endoplasmic reticulum membrane|integral to membrane				endometrium(3)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						CGCTGTGATCGTTGGCGGGTC	0.642													16	25					0	0	1	0	0	A	11785796	G	A	11785796	3	1	230	1	0	0	0	0	1	0	0	0	16854	1145	40	1	1646	1	TXNDC11	16	11785796	Missense_Mutation	SNP	G	TCGA-HT-7469-01A-11D-2253-08		11785796	78568957	37	26413											
TP53	7157	broad.mit.edu	37	17	7577539	7577539	+	Missense_Mutation	SNP	G	G	A	rs121912651		TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr17:7577539G>A	ENST00000420246.2	-	7	874	c.742C>T	c.(742-744)Cgg>Tgg	p.R248W	TP53_ENST00000359597.4_Missense_Mutation_p.R248W|TP53_ENST00000413465.2_Missense_Mutation_p.R248W|TP53_ENST00000445888.2_Missense_Mutation_p.R248W|TP53_ENST00000269305.4_Missense_Mutation_p.R248W|TP53_ENST00000455263.2_Missense_Mutation_p.R248W	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	248	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R248W(544)|p.R155W(28)|p.R248G(12)|p.0?(8)|p.?(5)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.N247_R248>KW(2)|p.M246_P250delMNRRP(2)|p.R248fs*97(2)|p.R248R(2)|p.R248fs*>39(1)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(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)		ATGGGCCTCCGGTTCATGCCG	0.577	R248W(786O_KIDNEY)|R248W(CAS1_CENTRAL_NERVOUS_SYSTEM)|R248W(COLO320_LARGE_INTESTINE)|R248W(COLO680N_OESOPHAGUS)|R248W(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(GCT_SOFT_TISSUE)|R248W(HCC2157_BREAST)|R248W(JIMT1_BREAST)|R248W(KO52_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(LUDLU1_LUNG)|R248W(LXF289_LUNG)|R248W(MIAPACA2_PANCREAS)|R248W(RD_SOFT_TISSUE)|R248W(SW837_LARGE_INTESTINE)|R248W(VCAP_PROSTATE)	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)			31	51					0	0	1	0	0	A	7577539	G	A	7577539	3	1	230	1	0	0	0	0	1	0	0	0	16442	1115	39	1	548	1	TP53	17	7577539	Missense_Mutation	SNP	G	TCGA-HT-7469-01A-11D-2253-08		7577539	73617671	38	26414											
TP53	7157	broad.mit.edu	37	17	7579314	7579314	+	Missense_Mutation	SNP	T	T	G			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr17:7579314T>G	ENST00000420246.2	-	4	505	c.373A>C	c.(373-375)Acg>Ccg	p.T125P	TP53_ENST00000359597.4_Missense_Mutation_p.T125P|TP53_ENST00000413465.2_Missense_Mutation_p.T125P|TP53_ENST00000445888.2_Missense_Mutation_p.T125P|TP53_ENST00000269305.4_Missense_Mutation_p.T125P|TP53_ENST00000455263.2_Missense_Mutation_p.T125P	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	125	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		T -> A (in a sporadic cancer; somatic mutation).|T -> K (in sporadic cancers; somatic mutation).|T -> M (in sporadic cancers; somatic mutation).|T -> P (in a sporadic cancer; somatic mutation).|T -> R (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.0?(8)|p.T125P(4)|p.G59fs*23(3)|p.V73fs*9(1)|p.G105_T125del21(1)|p.T125fs*45(1)|p.Y126fs*11(1)|p.Y107fs*44(1)|p.T125fs*24(1)|p.T125A(1)|p.P13fs*18(1)|p.S33fs*23(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)		CAACTGACCGTGCAAGTCACA	0.547		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)			39	43					0	0	1	0	0	G	7579314	T	G	7579314	3	3	230	1	0	0	0	0	1	0	0	0	16442	1696	59	5	929	5	TP53	17	7579314	Missense_Mutation	SNP	T	TCGA-HT-7469-01A-11D-2253-08	1775	7579314	73615896	39	26415											
MKNK2	2872	broad.mit.edu	37	19	2039675	2039675	+	Silent	SNP	C	C	T			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr19:2039675C>T	ENST00000250896.3	-	14	1579	c.1335G>A	c.(1333-1335)gcG>gcA	p.A445A	MKNK2_ENST00000591142.1_Intron|MKNK2_ENST00000309340.7_Intron|MKNK2_ENST00000541165.1_Silent_p.A314A|MKNK2_ENST00000591601.1_Silent_p.A445A	NM_199054.2	NP_951009.1	Q9HBH9	MKNK2_HUMAN	MAP kinase interacting serine/threonine kinase 2	445					cell surface receptor linked signaling pathway|intracellular protein kinase cascade|regulation of translation		ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(1)|kidney(3)|large_intestine(3)|lung(3)	10		Ovarian(11;2.11e-07)|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)		GCCGCCGCTGCGCCAGCTTGG	0.692													3	45					0	0	1	0	0	T	2039675	C	T	2039675	2	4	230	1	0	0	0	0	0	0	0	1	9653	755	27	1		1	MKNK2	19	2039675	Silent	SNP	C	TCGA-HT-7469-01A-11D-2253-08		2039675	57089308	40	26416											
SEMA6B	10501	broad.mit.edu	37	19	4550923	4550923	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr19:4550923A>G	ENST00000586582.1	-	11	1319	c.1009T>C	c.(1009-1011)Tgc>Cgc	p.C337R	SEMA6B_ENST00000586965.1_Missense_Mutation_p.C337R|SEMA6B_ENST00000301293.3_Missense_Mutation_p.C337R	NM_032108.3	NP_115484.2	Q9H3T3	SEM6B_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6B	337	Sema.				cell differentiation|nervous system development	integral to membrane	receptor activity	p.C337S(1)		breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		TCAAAGGCGCAGACAGCCGAG	0.627													3	94					0	0	1	0	0	G	4550923	A	G	4550923	3	3	230	1	0	0	0	0	1	0	0	0	14094	188	7	3	1685	3	SEMA6B	19	4550923	Missense_Mutation	SNP	A	TCGA-HT-7469-01A-11D-2253-08	2511248	4550923	54578060	41	26417											
DNMT1	1786	broad.mit.edu	37	19	10250948	10250948	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr19:10250948G>A	ENST00000340748.4	-	32	3767	c.3532C>T	c.(3532-3534)Cgg>Tgg	p.R1178W	DNMT1_ENST00000540357.1_Missense_Mutation_p.R1178W|DNMT1_ENST00000359526.4_Missense_Mutation_p.R1194W|DNMT1_ENST00000589538.1_Intron			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1	1178	Catalytic.|Interaction with the PRC2/EED-EZH2 complex (By similarity).				chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding			breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)	TTGTTCAGCCGGAACGCCTGG	0.612													3	76					0	0	1	0	0	A	10250948	G	A	10250948	3	1	230	1	0	0	0	0	1	0	0	0	4702	1115	39	1	1354	1	DNMT1	19	10250948	Missense_Mutation	SNP	G	TCGA-HT-7469-01A-11D-2253-08	5700025	10250948	48878035	42	26418											
UNC13A	23025	broad.mit.edu	37	19	17743590	17743590	+	Splice_Site	SNP	C	C	T			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr19:17743590C>T	ENST00000428389.2	-	29	3692		c.e29+1		UNC13A_ENST00000551649.1_Splice_Site|UNC13A_ENST00000519716.2_Splice_Site|UNC13A_ENST00000252773.7_Splice_Site|UNC13A_ENST00000552293.1_Splice_Site|UNC13A_ENST00000550896.1_Splice_Site			Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)						exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						AGGGGACTTACGCAGGGTACT	0.552													21	90					0	0	1	0	0	T	17743590	C	T	17743590	5	4	230	1	0	0	0	0	0	0	1	0	17044	550	19	1	1746	1	UNC13A	19	17743590	Splice_Site	SNP	C	TCGA-HT-7469-01A-11D-2253-08	7492642	17743590	41385393	43	26419											
RYR1	6261	broad.mit.edu	37	19	39039015	39039015	+	Silent	SNP	C	C	T			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr19:39039015C>T	ENST00000355481.4	+	88	12353	c.12222C>T	c.(12220-12222)taC>taT	p.Y4074Y	RYR1_ENST00000359596.3_Silent_p.Y4079Y|RYR1_ENST00000360985.3_Silent_p.Y4074Y	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	4079					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	TCCAGGACTACGTAACGGATC	0.552													34	60					0	0	1	0	0	T	39039015	C	T	39039015	2	4	230	1	0	0	0	0	0	0	0	1	13820	547	19	1		1	RYR1	19	39039015	Silent	SNP	C	TCGA-HT-7469-01A-11D-2253-08	21295425	39039015	20089968	44	26420											
NSFL1C	55968	broad.mit.edu	37	20	1445045	1445045	+	Silent	SNP	G	G	A			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr20:1445045G>A	ENST00000216879.4	-	2	999	c.132C>T	c.(130-132)gaC>gaT	p.D44D	NSFL1C_ENST00000353088.2_Silent_p.D44D|NSFL1C_ENST00000350991.4_Silent_p.D44D|NSFL1C_ENST00000381658.4_Intron|NSFL1C_ENST00000476071.1_Silent_p.D44D	NM_016143.4	NP_057227.2	Q9UNZ2	NSF1C_HUMAN	NSFL1 (p97) cofactor (p47)	44						chromosome|Golgi stack|nucleus	lipid binding|protein binding			breast(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	16						CATCCCCTCCGTCCTCATAAA	0.522													12	165					0	0	1	0	0	A	1445045	G	A	1445045	2	1	230	1	0	0	0	0	0	0	0	1	10720	1136	40	1		1	NSFL1C	20	1445045	Silent	SNP	G	TCGA-HT-7469-01A-11D-2253-08		1445045	61580475	45	26421											
CHGB	1114	broad.mit.edu	37	20	5905694	5905694	+	Silent	SNP	G	G	A			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr20:5905694G>A	ENST00000378961.4	+	5	2237	c.2033G>A	c.(2032-2034)tGa>tAa	p.*678*		NM_001819.2	NP_001810.2	P05060	SCG1_HUMAN	chromogranin B (secretogranin 1)	0						extracellular region	hormone activity			breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						CAAAGGGGCTGACTGTCATTG	0.438													23	23					0	0	1	0	0	A	5905694	G	A	5905694	2	1	230	1	0	0	0	0	0	0	0	1	3361	1285	45	2		2	CHGB	20	5905694	Silent	SNP	G	TCGA-HT-7469-01A-11D-2253-08	4460649	5905694	57119826	46	26422											
BPI	671	broad.mit.edu	37	20	36952337	36952337	+	Silent	SNP	C	C	T			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr20:36952337C>T	ENST00000262865.4	+	8	923	c.834C>T	c.(832-834)ccC>ccT	p.P278P	CTD-2308N23.2_ENST00000437016.1_RNA|BPI_ENST00000489102.1_3'UTR	NM_001725.2	NP_001716.2	P17213	BPI_HUMAN	bactericidal/permeability-increasing protein	278					defense response to bacterium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of macrophage activation|negative regulation of tumor necrosis factor production	extracellular region|integral to plasma membrane	lipid binding|lipopolysaccharide binding			kidney(1)|large_intestine(6)|lung(15)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	30		Myeloproliferative disorder(115;0.00878)				TGGAGTTTCCCGCTGCCCATG	0.537													34	54					0	0	1	0	0	T	36952337	C	T	36952337	2	4	230	1	0	0	0	0	0	0	0	1	1492	639	23	1		1	BPI	20	36952337	Silent	SNP	C	TCGA-HT-7469-01A-11D-2253-08	31046643	36952337	26073183	47	26423											
ZNF217	7764	broad.mit.edu	37	20	52198916	52198916	+	Missense_Mutation	SNP	G	G	C			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr20:52198916G>C	ENST00000371471.2	-	2	875	c.450C>G	c.(448-450)caC>caG	p.H150Q	ZNF217_ENST00000302342.3_Missense_Mutation_p.H150Q			O75362	ZN217_HUMAN	zinc finger protein 217	150					negative regulation of transcription, DNA-dependent	histone deacetylase complex	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)			AAGAATCTTTGTGTGTTCTCA	0.423													8	158					0	0	1	0	0	C	52198916	G	C	52198916	3	2	230	1	0	0	0	0	1	0	0	0	17830	1368	48	5	2712	5	ZNF217	20	52198916	Missense_Mutation	SNP	G	TCGA-HT-7469-01A-11D-2253-08	15246579	52198916	10826604	48	26424											
MX2	4600	broad.mit.edu	37	21	42774042	42774042	+	Silent	SNP	C	C	T			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr21:42774042C>T	ENST00000330714.3	+	11	1744	c.1560C>T	c.(1558-1560)ctC>ctT	p.L520L	MX2_ENST00000496774.1_3'UTR	NM_002463.1	NP_002454.1	P20592	MX2_HUMAN	myxovirus (influenza virus) resistance 2 (mouse)	520					response to virus|type I interferon-mediated signaling pathway	cytoplasm|nucleus	GTP binding|GTPase activity			breast(2)|endometrium(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	34		Prostate(19;1.57e-07)|all_epithelial(19;0.0222)				TTAGCATGCTCCAGAAAGCCA	0.517													21	67					0	0	1	0	0	T	42774042	C	T	42774042	2	4	230	1	0	0	0	0	0	0	0	1	10046	842	30	2		2	MX2	21	42774042	Silent	SNP	C	TCGA-HT-7469-01A-11D-2253-08		42774042	5355853	49	26425											
ADARB1	104	broad.mit.edu	37	21	46624592	46624592	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr21:46624592G>A	ENST00000539173.1	+	10	2243	c.1808G>A	c.(1807-1809)cGg>cAg	p.R603Q	ADARB1_ENST00000360697.3_Missense_Mutation_p.R603Q|ADARB1_ENST00000389863.4_Missense_Mutation_p.R603Q|ADARB1_ENST00000348831.4_Missense_Mutation_p.R563Q|ADARB1_ENST00000437626.1_3'UTR	NM_015833.3	NP_056648.1	P78563	RED1_HUMAN	adenosine deaminase, RNA-specific, B1	603	A to I editase.				adenosine to inosine editing|mRNA modification|mRNA processing|RNA processing	nucleoplasm|nucleus	double-stranded RNA adenosine deaminase activity|double-stranded RNA binding|metal ion binding|mRNA binding|RNA binding			endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(1)	17				Colorectal(79;0.115)		ATGTACCAGCGGATCTCCAAC	0.522													37	55					0	0	1	0	0	A	46624592	G	A	46624592	3	1	230	1	0	0	0	0	1	0	0	0	281	1116	39	1	1838	1	ADARB1	21	46624592	Missense_Mutation	SNP	G	TCGA-HT-7469-01A-11D-2253-08	3850550	46624592	1505303	50	26426											
SEC14L4	284904	broad.mit.edu	37	22	30886219	30886219	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr22:30886219C>T	ENST00000540456.1	-	13	1244	c.1051G>A	c.(1051-1053)Gac>Aac	p.D351N	RP4-539M6.14_ENST00000610156.1_RNA|SEC14L4_ENST00000392772.2_Silent_p.S326S|SEC14L4_ENST00000381982.3_Intron|SEC14L4_ENST00000255858.7_Missense_Mutation_p.D366N			Q9UDX3	S14L4_HUMAN	SEC14-like 4 (S. cerevisiae)	366	GOLD.					integral to membrane|intracellular	lipid binding|transporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|pancreas(1)|skin(1)	21					Vitamin E(DB00163)	TAGGTGTTGTCGAAGCGCAGG	0.592													27	85					0	0	1	0	0	T	30886219	C	T	30886219	3	4	230	1	0	0	0	0	1	0	0	0	14038	884	31	1	134	1	SEC14L4	22	30886219	Missense_Mutation	SNP	C	TCGA-HT-7469-01A-11D-2253-08		30886219	20418347	51	26427											
DMC1	11144	broad.mit.edu	37	22	38935415	38935415	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr22:38935415C>T	ENST00000216024.2	-	9	773	c.497G>A	c.(496-498)cGt>cAt	p.R166H	DMC1_ENST00000428462.2_Intron	NM_007068.2	NP_008999.2	Q14565	DMC1_HUMAN	DNA meiotic recombinase 1	166					reciprocal meiotic recombination	condensed nuclear chromosome	ATP binding|DNA binding|DNA-dependent ATPase activity|protein binding			large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	11	Melanoma(58;0.0286)					GCGATCTGGACGGCTGGAGTA	0.403								Homologous recombination					35	46					0	0	1	0	0	T	38935415	C	T	38935415	3	4	230	1	0	0	0	0	1	0	0	0	4607	536	19	1	549	1	DMC1	22	38935415	Missense_Mutation	SNP	C	TCGA-HT-7469-01A-11D-2253-08	8049196	38935415	12369151	52	26428											
ATRX	546	broad.mit.edu	37	X	76939510	76939511	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chrX:76939510_76939511delAA	ENST00000373344.5	-	9	1451_1452	c.1237_1238delTT	c.(1237-1239)ttafs	p.L413fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.L375fs	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	413					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)	CTCGGAATTTAAGTCTTCTTCC	0.361			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						187	6	---	---	---	---						-	76939511	AA	-	76939510	7	5	230	1	0	1	0	1	0	0	0	0	1206	372	13	0	6348	0	ATRX	23	76939510	Frame_Shift_Del	DEL	AA	TCGA-HT-7469-01A-11D-2253-08		76939510	78331050	53	26429											
RBMX	27316	broad.mit.edu	37	X	135956319	135956319	+	Silent	SNP	T	T	C			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chrX:135956319T>C	ENST00000320676.7	-	9	1312	c.1158A>G	c.(1156-1158)ggA>ggG	p.G386G	RBMX_ENST00000565438.1_Silent_p.G258G|RBMX_ENST00000570135.1_Silent_p.G251G|RBMX_ENST00000562646.1_3'UTR|RBMX_ENST00000431446.3_Intron	NM_002139.3	NP_002130.2	P38159	HNRPG_HUMAN	RNA binding motif protein, X-linked	386						catalytic step 2 spliceosome|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|urinary_tract(1)	33	Acute lymphoblastic leukemia(192;0.000127)					TGCTTCTGCCTCCCCCTCTAT	0.483													4	76					0	0	1	0	0	C	135956319	T	C	135956319	2	2	230	1	0	0	0	0	0	0	0	1	13203	1538	54	3		3	RBMX	23	135956319	Silent	SNP	T	TCGA-HT-7469-01A-11D-2253-08	59016809	135956319	19314241	54	26430											
AGL	178	broad.mit.edu	37	1	100346642	100346642	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr1:100346642C>T	ENST00000294724.4	+	15	2388	c.1910C>T	c.(1909-1911)gCg>gTg	p.A637V	AGL_ENST00000361915.3_Missense_Mutation_p.A637V|AGL_ENST00000361302.3_Missense_Mutation_p.A621V|AGL_ENST00000361522.4_Missense_Mutation_p.A620V|AGL_ENST00000370163.3_Missense_Mutation_p.A637V|AGL_ENST00000370161.2_Missense_Mutation_p.A621V|AGL_ENST00000370165.3_Missense_Mutation_p.A637V	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase	637					glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|isoamylase complex|nucleus	4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		CATAGATCAGCGTATGATGCT	0.353													13	55					0	0	1	0	0	T	100346642	C	T	100346642	3	4	231	1	0	0	0	0	1	0	0	0	381	768	27	1	2033	1	AGL	1	100346642	Missense_Mutation	SNP	C	TCGA-HT-7470-01A-12D-2086-08		100346642	148903979	1	26431											
CEPT1	10390	broad.mit.edu	37	1	111726868	111726868	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr1:111726868C>T	ENST00000545121.1	+	9	1395	c.1187C>T	c.(1186-1188)gCg>gTg	p.A396V	CEPT1_ENST00000357172.4_Missense_Mutation_p.A396V|CEPT1_ENST00000467362.1_3'UTR	NM_001007794.1	NP_001007795.1	Q9Y6K0	CEPT1_HUMAN	choline/ethanolamine phosphotransferase 1	396						endoplasmic reticulum membrane|integral to membrane|nuclear membrane	diacylglycerol cholinephosphotransferase activity|ethanolaminephosphotransferase activity|metal ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)	8		all_cancers(81;2.27e-05)|all_epithelial(167;7.36e-06)|all_lung(203;0.00018)|Lung NSC(277;0.000359)		Lung(183;0.0173)|Colorectal(144;0.0375)|all cancers(265;0.0701)|LUSC - Lung squamous cell carcinoma(189;0.0888)|Epithelial(280;0.103)|COAD - Colon adenocarcinoma(174;0.141)	Choline(DB00122)	AATCAGATTGCGTCTCACCTG	0.398													5	110					0	0	1	0	0	T	111726868	C	T	111726868	3	4	231	1	0	0	0	0	1	0	0	0	3286	768	27	1	1217	1	CEPT1	1	111726868	Missense_Mutation	SNP	C	TCGA-HT-7470-01A-12D-2086-08	11380226	111726868	137523753	2	26432											
TCHH	7062	broad.mit.edu	37	1	152080904	152080904	+	Missense_Mutation	SNP	A	A	T	rs71585886		TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr1:152080904A>T	ENST00000368804.1	-	2	4788	c.4789T>A	c.(4789-4791)Ttc>Atc	p.F1597I		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1597	23 X 26 AA approximate tandem repeats.				keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCCTCCATGAATTTTCTCTCT	0.582													33	61					0	0	1	0	0	T	152080904	A	T	152080904	3	4	231	1	0	0	0	0	1	0	0	0	15760	101	4	4	1046	4	TCHH	1	152080904	Missense_Mutation	SNP	A	TCGA-HT-7470-01A-12D-2086-08	40354036	152080904	97169717	3	26433											
CFH	3075	broad.mit.edu	37	1	196642210	196642210	+	Missense_Mutation	SNP	C	C	A			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr1:196642210C>A	ENST00000367429.4	+	2	401	c.161C>A	c.(160-162)cCt>cAt	p.P54H	CFH_ENST00000359637.2_Missense_Mutation_p.P54H|CFH_ENST00000439155.2_Missense_Mutation_p.P54H|CFH_ENST00000496761.1_3'UTR	NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	54	Sushi 1.			RP -> IL (in Ref. 5; CAB41739).	complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						AAATGCCGCCCTGGATATAGA	0.403													7	106					0.00621372	0.00641416	1	1	0	A	196642210	C	A	196642210	3	1	231	1	0	0	0	0	1	0	0	0	3305	681	24	4	167	4	CFH	1	196642210	Missense_Mutation	SNP	C	TCGA-HT-7470-01A-12D-2086-08	44561306	196642210	52608411	4	26434											
C1orf131	128061	broad.mit.edu	37	1	231364922	231364922	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr1:231364922C>T	ENST00000318906.2	-	3	512	c.484G>A	c.(484-486)Gat>Aat	p.D162N	C1orf131_ENST00000366651.3_Missense_Mutation_p.D161N|C1orf131_ENST00000366649.2_Missense_Mutation_p.D162N			Q8NDD1	CA131_HUMAN	chromosome 1 open reading frame 131	162										breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)	8	Breast(184;0.0871)	all_cancers(173;0.2)|Prostate(94;0.183)				TCTTGTGTATCCACATCTCTC	0.264													3	36					0	0	1	0	0	T	231364922	C	T	231364922	3	4	231	1	0	0	0	0	1	0	0	0	2011	855	30	2	417	2	C1orf131	1	231364922	Missense_Mutation	SNP	C	TCGA-HT-7470-01A-12D-2086-08	34722712	231364922	17885699	5	26435											
RYR2	6262	broad.mit.edu	37	1	237872820	237872820	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr1:237872820C>T	ENST00000366574.2	+	70	10500	c.10183C>T	c.(10183-10185)Ctc>Ttc	p.L3395F	RYR2_ENST00000360064.6_Missense_Mutation_p.L3393F|RYR2_ENST00000609119.1_3'UTR|RYR2_ENST00000542537.1_Missense_Mutation_p.L3379F	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3395					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AGCAGAGGAGCTCTTCCGCAT	0.418													9	10					0	0	1	0	0	T	237872820	C	T	237872820	3	4	231	1	0	0	0	0	1	0	0	0	13821	797	28	2	10461	2	RYR2	1	237872820	Missense_Mutation	SNP	C	TCGA-HT-7470-01A-12D-2086-08	6507898	237872820	11377801	6	26436											
ZNF638	27332	broad.mit.edu	37	2	71590305	71590305	+	Missense_Mutation	SNP	A	A	C			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr2:71590305A>C	ENST00000409544.1	+	4	2032	c.1402A>C	c.(1402-1404)Atc>Ctc	p.I468L	ZNF638_ENST00000377802.2_Missense_Mutation_p.I468L|ZNF638_ENST00000410075.1_3'UTR|ZNF638_ENST00000264447.4_Missense_Mutation_p.I468L|ZNF638_ENST00000355812.3_Missense_Mutation_p.I468L	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638	468					RNA splicing	cytoplasm|nuclear speck	double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						GAATCCTGAGATCCTCCCATC	0.264													21	42					0	0	1	0	0	C	71590305	A	C	71590305	3	2	231	1	0	0	0	0	1	0	0	0	18112	333	12	4	1412	4	ZNF638	2	71590305	Missense_Mutation	SNP	A	TCGA-HT-7470-01A-12D-2086-08		71590305	171609068	7	26437											
LRRTM4	80059	broad.mit.edu	37	2	76975874	76975874	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr2:76975874T>C	ENST00000409911.1	-	3	1946	c.1723A>G	c.(1723-1725)Acc>Gcc	p.T575A	LRRTM4_ENST00000409093.1_Missense_Mutation_p.T574A|LRRTM4_ENST00000409884.1_Missense_Mutation_p.T574A	NM_001134745.1|NM_001282924.1	NP_001128217.1|NP_001269853.1	Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	574						integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		CTGGCGATGGTGGCGATGAAG	0.617													45	143					0	0	1	0	0	C	76975874	T	C	76975874	3	2	231	1	0	0	0	0	1	0	0	0	9087	1696	59	3	56	3	LRRTM4	2	76975874	Missense_Mutation	SNP	T	TCGA-HT-7470-01A-12D-2086-08	5385569	76975874	166223499	8	26438											
IDH1	3417	broad.mit.edu	37	2	209113113	209113113	+	Missense_Mutation	SNP	G	G	T	rs121913499		TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr2:209113113G>T	ENST00000415913.1	-	4	775	c.394C>A	c.(394-396)Cgt>Agt	p.R132S	IDH1_ENST00000446179.1_Missense_Mutation_p.R132S|IDH1_ENST00000345146.2_Missense_Mutation_p.R132S	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		TAAGCATGACGACCTATGATG	0.398			Mis		gliobastoma								28	78					9.17885e-22	1.03061e-21	1	1	0	T	209113113	G	T	209113113	3	4	231	1	0	0	0	0	1	0	0	0	7538	1058	37	5	878	5	IDH1	2	209113113	Missense_Mutation	SNP	G	TCGA-HT-7470-01A-12D-2086-08	132137239	209113113	34086260	9	26439											
AAMP	14	broad.mit.edu	37	2	219134766	219134766	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr2:219134766delG	ENST00000248450.4	-	1	214	c.44delC	c.(43-45)ccafs	p.P15fs	AAMP_ENST00000444053.1_Frame_Shift_Del_p.P15fs			Q13685	AAMP_HUMAN	angio-associated, migratory cell protein	15					angiogenesis|cell differentiation|positive regulation of endothelial cell migration|smooth muscle cell migration	cell surface|cytoplasm|plasma membrane	heparin binding	p.L16fs*9(1)		haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(4)|ovary(2)|skin(1)	11		Renal(207;0.0474)		Epithelial(149;7.19e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGTCTCCAGTGGGGGGGTGTC	0.617													11	488	---	---	---	---						-	219134766	G	-	219134766	7	5	231	1	0	1	0	1	0	0	0	0	17	1348	47	0	1304	0	AAMP	2	219134766	Frame_Shift_Del	DEL	G	TCGA-HT-7470-01A-12D-2086-08	10021653	219134766	24064607	10	26440											
SPHKAP	80309	broad.mit.edu	37	2	228846502	228846502	+	Silent	SNP	G	G	A			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr2:228846502G>A	ENST00000392056.3	-	12	5080	c.5034C>T	c.(5032-5034)taC>taT	p.Y1678Y	SPHKAP_ENST00000344657.5_Silent_p.Y1649Y	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1678						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		GCATTTTGCAGTACTGGACAA	0.463													4	91					0	0	1	0	0	A	228846502	G	A	228846502	2	1	231	1	0	0	0	0	0	0	0	1	15104	1024	36	2		2	SPHKAP	2	228846502	Silent	SNP	G	TCGA-HT-7470-01A-12D-2086-08	9711736	228846502	14352871	11	26441											
TRPM8	79054	broad.mit.edu	37	2	234905020	234905020	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr2:234905020A>G	ENST00000324695.4	+	22	3030	c.2990A>G	c.(2989-2991)cAg>cGg	p.Q997R	TRPM8_ENST00000433712.2_Missense_Mutation_p.Q575R	NM_024080.4	NP_076985.4	Q7Z2W7	TRPM8_HUMAN	transient receptor potential cation channel, subfamily M, member 8	997						integral to membrane				breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	TGGAAGTTCCAGAGGTACTTC	0.537													8	70					0	0	1	0	0	G	234905020	A	G	234905020	3	3	231	1	0	0	0	0	1	0	0	0	16653	188	7	3	3072	3	TRPM8	2	234905020	Missense_Mutation	SNP	A	TCGA-HT-7470-01A-12D-2086-08	6058518	234905020	8294353	12	26442											
KCNH8	131096	broad.mit.edu	37	3	19575424	19575424	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr3:19575424G>T	ENST00000328405.2	+	16	3423	c.3157G>T	c.(3157-3159)Ggc>Tgc	p.G1053C		NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	1053	Ser-rich.					integral to membrane	two-component sensor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						ATCAGAGGAGGGCAGCTTCAG	0.488													5	51					0.014758	0.0149922	1	1	0	T	19575424	G	T	19575424	3	4	231	1	0	0	0	0	1	0	0	0	8082	1232	43	5	3219	5	KCNH8	3	19575424	Missense_Mutation	SNP	G	TCGA-HT-7470-01A-12D-2086-08		19575424	178447006	13	26443											
MYRIP	25924	broad.mit.edu	37	3	40286033	40286033	+	Missense_Mutation	SNP	C	C	A			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr3:40286033C>A	ENST00000302541.6	+	13	2539	c.2197C>A	c.(2197-2199)Cat>Aat	p.H733N	MYRIP_ENST00000459828.1_3'UTR|MYRIP_ENST00000425621.1_Missense_Mutation_p.H668N|MYRIP_ENST00000444716.1_Missense_Mutation_p.H733N|MYRIP_ENST00000539167.1_Missense_Mutation_p.H546N|MYRIP_ENST00000396217.3_Missense_Mutation_p.H644N	NM_001284423.1|NM_001284426.1|NM_015460.2	NP_001271352.1|NP_001271355.1|NP_056275.2	Q8NFW9	MYRIP_HUMAN	myosin VIIA and Rab interacting protein	733	Actin-binding.				intracellular protein transport		actin binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(2)|lung(10)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206)		TGATGAGACCCATCTGGCGGA	0.602													3	72					1	1	1	1	0	A	40286033	C	A	40286033	3	1	231	1	0	0	0	0	1	0	0	0	10148	594	21	5	2243	5	MYRIP	3	40286033	Missense_Mutation	SNP	C	TCGA-HT-7470-01A-12D-2086-08	20710609	40286033	157736397	14	26444											
ABI3BP	25890	broad.mit.edu	37	3	100489774	100489774	+	Silent	SNP	T	T	C			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr3:100489774T>C	ENST00000471714.1	-	61	4636	c.4527A>G	c.(4525-4527)caA>caG	p.Q1509Q	ABI3BP_ENST00000284322.5_Silent_p.Q807Q|ABI3BP_ENST00000383691.4_Silent_p.Q761Q			Q7Z7G0	TARSH_HUMAN	ABI family, member 3 (NESH) binding protein	807						extracellular space				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						TGTCAGGCTTTTGGATGTATC	0.468													19	120					0	0	1	0	0	C	100489774	T	C	100489774	2	2	231	1	0	0	0	0	0	0	0	1	91	1838	64	3		3	ABI3BP	3	100489774	Silent	SNP	T	TCGA-HT-7470-01A-12D-2086-08	60203741	100489774	97532656	15	26445											
GPR149	344758	broad.mit.edu	37	3	154146852	154146852	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr3:154146852C>T	ENST00000389740.2	-	1	652	c.553G>A	c.(553-555)Gac>Aac	p.D185N		NM_001038705.1	NP_001033794.1	Q86SP6	GP149_HUMAN	G protein-coupled receptor 149	185						integral to membrane|plasma membrane	G-protein coupled receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			CTGGAGCAGTCCACCAGGCAG	0.657													7	37					0	0	1	0	0	T	154146852	C	T	154146852	3	4	231	1	0	0	0	0	1	0	0	0	6694	855	30	2	1658	2	GPR149	3	154146852	Missense_Mutation	SNP	C	TCGA-HT-7470-01A-12D-2086-08	53657078	154146852	43875578	16	26446											
STATH	6779	broad.mit.edu	37	4	70866654	70866654	+	Silent	SNP	A	A	G			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr4:70866654A>G	ENST00000246895.4	+	5	288	c.177A>G	c.(175-177)caA>caG	p.Q59Q	STATH_ENST00000381060.2_Silent_p.Q49Q	NM_003154.2	NP_003145.1	P02808	STAT_HUMAN	statherin	59	Hydrophobic; inhibits precipitation of calcium phosphate salts.				biomineral tissue development|negative regulation of bone mineralization|ossification|saliva secretion	extracellular region	extracellular matrix constituent, lubricant activity|hydroxyapatite binding|protein binding|structural constituent of tooth enamel			lung(2)|skin(1)	3						AATACCAACAATATACCTTTT	0.373													38	127					0	0	1	0	0	G	70866654	A	G	70866654	2	3	231	1	0	0	0	0	0	0	0	1	15327	98	4	3		3	STATH	4	70866654	Silent	SNP	A	TCGA-HT-7470-01A-12D-2086-08		70866654	120287622	17	26447											
OTUD4	54726	broad.mit.edu	37	4	146077123	146077125	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr4:146077123_146077125delCAG	ENST00000454497.2	-	8	595_597	c.458_460delCTG	c.(457-462)gctgat>gat	p.A153del	OTUD4_ENST00000455611.2_5'UTR|OTUD4_ENST00000447906.2_In_Frame_Del_p.A218del	NM_001102653.1	NP_001096123.1	Q01804	OTUD4_HUMAN	OTU domain containing 4	218	OTU.						protein binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					CCATTCACATCAGCAGCAGCAGC	0.34													8	142	---	---	---	---						-	146077125	CAG	-	146077123	7	5	231	1	0	1	0	1	0	0	0	0	11361	826	29	0	2745	0	OTUD4	4	146077123	In_Frame_Del	DEL	CAG	TCGA-HT-7470-01A-12D-2086-08	75210469	146077123	45077153	18	26448											
CAPSL	133690	broad.mit.edu	37	5	35910530	35910530	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr5:35910530G>A	ENST00000397367.2	-	3	379	c.253C>T	c.(253-255)Cgg>Tgg	p.R85W	CAPSL_ENST00000397366.1_Missense_Mutation_p.R85W|CAPSL_ENST00000514524.1_Missense_Mutation_p.R85W	NM_144647.3	NP_653248.3	Q8WWF8	CAPSL_HUMAN	calcyphosine-like	85	EF-hand 2.		R -> Q (in dbSNP:rs1445898).			cytoplasm	calcium ion binding	p.R85R(2)		central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(10)|skin(1)|urinary_tract(1)	19	all_lung(31;0.000268)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.167)|Colorectal(62;0.202)			TCAAACCTCCGGAAAAGTTCT	0.358													14	74					0	0	1	0	0	A	35910530	G	A	35910530	3	1	231	1	0	0	0	0	1	0	0	0	2657	1115	39	1	385	1	CAPSL	5	35910530	Missense_Mutation	SNP	G	TCGA-HT-7470-01A-12D-2086-08		35910530	145004730	19	26449											
RNF145	153830	broad.mit.edu	37	5	158621725	158621725	+	Splice_Site	SNP	T	T	C			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr5:158621725T>C	ENST00000424310.2	-	3	651	c.292A>G	c.(292-294)Agg>Ggg	p.R98G	RNF145_ENST00000274542.2_Splice_Site_p.R126G|RNF145_ENST00000520638.1_Splice_Site_p.R112G|RNF145_ENST00000521606.2_Splice_Site_p.R115G|RNF145_ENST00000518802.1_Splice_Site_p.R128G|RNF145_ENST00000519865.1_Splice_Site_p.R98G	NM_001199383.1	NP_001186312.1	Q96MT1	RN145_HUMAN	ring finger protein 145	98						integral to membrane	zinc ion binding			endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TATTCTTACCTGGAAATTTGA	0.363													53	119					0	0	1	0	0	C	158621725	T	C	158621725	5	2	231	1	0	0	0	0	0	0	1	0	13499	1594	55	3	1735	3	RNF145	5	158621725	Splice_Site	SNP	T	TCGA-HT-7470-01A-12D-2086-08	122711195	158621725	22293535	20	26450											
FAM153B	202134	broad.mit.edu	37	5	175533580	175533580	+	Silent	SNP	C	C	A			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr5:175533580C>A	ENST00000253490.4	+	16	906	c.849C>A	c.(847-849)gcC>gcA	p.A283A	FAM153B_ENST00000510151.1_Silent_p.A206A|FAM153B_ENST00000512862.1_Silent_p.A74A|FAM153B_ENST00000515817.1_Silent_p.A206A			P0C7A2	F153B_HUMAN	family with sequence similarity 153, member B	283										endometrium(3)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	16	all_cancers(89;0.00406)|Renal(175;0.000269)|Lung NSC(126;0.0103)|all_lung(126;0.0164)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Kidney(146;0.0965)		TGGACCCAGCCACGCCGGCAA	0.473													17	204					3.3946e-10	3.68228e-10	1	1	0	A	175533580	C	A	175533580	2	1	231	1	0	0	0	0	0	0	0	1	5491	581	21	5		5	FAM153B	5	175533580	Silent	SNP	C	TCGA-HT-7470-01A-12D-2086-08	16911855	175533580	5381680	21	26451											
COL19A1	1310	broad.mit.edu	37	6	70877920	70877920	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr6:70877920A>G	ENST00000322773.4	+	38	2551	c.2449A>G	c.(2449-2451)Att>Gtt	p.I817V	COL19A1_ENST00000393344.1_Missense_Mutation_p.I439V	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	817	Triple-helical region 4 (COL4).			GIPFNERN -> VSCSRLKI (in Ref. 6; AAA36358).	cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						TCCTAAGGGTATTCCATTTAA	0.279													11	75					0	0	1	0	0	G	70877920	A	G	70877920	3	3	231	1	0	0	0	0	1	0	0	0	3699	449	16	3	2595	3	COL19A1	6	70877920	Missense_Mutation	SNP	A	TCGA-HT-7470-01A-12D-2086-08		70877920	100237147	22	26452											
DOPEY1	23033	broad.mit.edu	37	6	83839856	83839856	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr6:83839856C>T	ENST00000349129.2	+	17	2616	c.2356C>T	c.(2356-2358)Cag>Tag	p.Q786*	DOPEY1_ENST00000369739.3_Nonsense_Mutation_p.Q777*|DOPEY1_ENST00000237163.5_Nonsense_Mutation_p.Q767*	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	786					protein transport					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		TGAGCATGTGCAGCCTCCACA	0.418													21	49					0	0	1	0	0	T	83839856	C	T	83839856	4	4	231	1	0	0	0	0	0	1	0	0	4734	711	25	2	2414	2	DOPEY1	6	83839856	Nonsense_Mutation	SNP	C	TCGA-HT-7470-01A-12D-2086-08	12961936	83839856	87275211	23	26453											
PRDM1	639	broad.mit.edu	37	6	106555167	106555167	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr6:106555167G>A	ENST00000369096.4	+	7	2518	c.2284G>A	c.(2284-2286)Gtg>Atg	p.V762M	PRDM1_ENST00000369091.2_Missense_Mutation_p.V726M|PRDM1_ENST00000369089.3_Missense_Mutation_p.V628M	NM_001198.3	NP_001189.2	O75626	PRDM1_HUMAN	PR domain containing 1, with ZNF domain	762					negative regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(59)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(5)|urinary_tract(2)	94	Breast(9;0.022)	all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365)		all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05)		AATTCTGGCCGTGGTCAGAAA	0.478			"D, N, Mis, F, S"		DLBCL								25	57					0	0	1	0	0	A	106555167	G	A	106555167	3	1	231	1	0	0	0	0	1	0	0	0	12502	1145	40	1	2323	1	PRDM1	6	106555167	Missense_Mutation	SNP	G	TCGA-HT-7470-01A-12D-2086-08	22715311	106555167	64559900	24	26454											
MICAL1	64780	broad.mit.edu	37	6	109770958	109770958	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr6:109770958T>C	ENST00000368952.4	-	10	1683	c.1393A>G	c.(1393-1395)Aca>Gca	p.T465A	MICAL1_ENST00000358807.3_Missense_Mutation_p.T446A|MICAL1_ENST00000358577.3_Missense_Mutation_p.T360A			Q8TDZ2	MICA1_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 1	446					cytoskeleton organization|signal transduction	cytoplasm|intermediate filament	SH3 domain binding|zinc ion binding			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574)		TCTGGGGATGTCTGTGACAGA	0.607													15	127					0	0	1	0	0	C	109770958	T	C	109770958	3	2	231	1	0	0	0	0	1	0	0	0	9617	1667	58	3	1931	3	MICAL1	6	109770958	Missense_Mutation	SNP	T	TCGA-HT-7470-01A-12D-2086-08	3215791	109770958	61344109	25	26455											
TRDN	10345	broad.mit.edu	37	6	123786032	123786033	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr6:123786032_123786033insA	ENST00000546248.1	-	9	1022_1023	c.889_890insT	c.(889-891)tctfs	p.S297fs	RP11-532N4.2_ENST00000418467.2_RNA|RP11-532N4.2_ENST00000427828.1_RNA|TRDN_ENST00000398178.3_Intron|RP11-532N4.2_ENST00000589182.1_RNA|TRDN_ENST00000334268.4_Intron|RP11-532N4.2_ENST00000587106.2_RNA|RP11-532N4.2_ENST00000434768.1_RNA	NM_001256020.1	NP_001242949.1	Q13061	TRDN_HUMAN	triadin	0					muscle contraction	integral to membrane|plasma membrane|sarcoplasmic reticulum membrane	receptor binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	41				GBM - Glioblastoma multiforme(226;0.184)		AGATCTTTAAGAAAAAAAAAAG	0.386													3	3	---	---	---	---						A	123786033	-	A	123786032	7	5	231	1	0	1	1	0	0	0	0	0	16529	957	33	0		0	TRDN	6	123786032	Frame_Shift_Ins	INS	-	TCGA-HT-7470-01A-12D-2086-08	14015074	123786032	47329035	26	26456											
TULP4	56995	broad.mit.edu	37	6	158850782	158850782	+	Silent	SNP	G	G	A	rs142500811		TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr6:158850782G>A	ENST00000367097.3	+	3	1753	c.396G>A	c.(394-396)acG>acA	p.T132T	TULP4_ENST00000367094.2_Silent_p.T132T	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN	tubby like protein 4	132					intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity			endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		GTGATTTCACGTGGAGCCATG	0.408													7	196					0	0	1	0	0	A	158850782	G	A	158850782	2	1	231	1	0	0	0	0	0	0	0	1	16838	1132	40	1		1	TULP4	6	158850782	Silent	SNP	G	TCGA-HT-7470-01A-12D-2086-08	35064750	158850782	12264285	27	26457											
SRPK2	6733	broad.mit.edu	37	7	104782648	104782648	+	Silent	SNP	T	T	C	rs56003957	byFrequency	TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr7:104782648T>C	ENST00000357311.3	-	10	1488	c.1317A>G	c.(1315-1317)ccA>ccG	p.P439P	SRPK2_ENST00000489828.1_Silent_p.P439P|SRPK2_ENST00000393651.3_Silent_p.P450P	NM_001278273.1|NM_182691.1	NP_001265202.1|NP_872633.1	P78362	SRPK2_HUMAN	SRSF protein kinase 2	439	Protein kinase.				angiogenesis|cell differentiation|intracellular protein kinase cascade|negative regulation of viral genome replication|nuclear speck organization|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of gene expression|positive regulation of neuron apoptosis|positive regulation of viral genome replication|spliceosome assembly	cytoplasm|nucleolus	14-3-3 protein binding|ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(11)|large_intestine(6)|lung(4)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	35						GTCGTCCATTTGGCAATTCAC	0.443													22	118					0	0	1	0	0	C	104782648	T	C	104782648	2	2	231	1	0	0	0	0	0	0	0	1	15216	1799	63	3		3	SRPK2	7	104782648	Silent	SNP	T	TCGA-HT-7470-01A-12D-2086-08		104782648	54356015	28	26458											
FOXB2	442425	broad.mit.edu	37	9	79635448	79635448	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr9:79635448C>T	ENST00000376708.1	+	1	878	c.878C>T	c.(877-879)tCc>tTc	p.S293F		NM_001013735.1	NP_001013757.1	Q5VYV0	FOXB2_HUMAN	forkhead box B2	293					brain development|embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			breast(1)|lung(8)|ovary(1)	10						CCCTTGGCGTCCGTCATGCAC	0.662													15	51					0	0	1	0	0	T	79635448	C	T	79635448	3	4	231	1	0	0	0	0	1	0	0	0	6026	855	30	2	880	2	FOXB2	9	79635448	Missense_Mutation	SNP	C	TCGA-HT-7470-01A-12D-2086-08		79635448	61577983	29	26459											
NOTCH1	4851	broad.mit.edu	37	9	139411837	139411837	+	Splice_Site	SNP	C	C	A			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr9:139411837C>A	ENST00000277541.6	-	9	1517	c.1442G>T	c.(1441-1443)gGc>gTc	p.G481V		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	481	EGF-like 12; calcium-binding (Potential).				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		ACCCTCGTAGCCTGTGGGGTG	0.647			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			4	10					1.23904e-05	1.32164e-05	1	1	0	A	139411837	C	A	139411837	5	1	231	1	0	0	0	0	0	0	1	0	10594	753	26	5	6329	5	NOTCH1	9	139411837	Splice_Site	SNP	C	TCGA-HT-7470-01A-12D-2086-08	59776389	139411837	1801594	30	26460											
CUBN	8029	broad.mit.edu	37	10	16990512	16990512	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr10:16990512C>G	ENST00000377833.4	-	35	5239	c.5174G>C	c.(5173-5175)gGg>gCg	p.G1725A		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	1725	CUB 11.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GTGGAAACCCCCAGCACTGAT	0.512													11	49					0	0	1	0	0	G	16990512	C	G	16990512	3	3	231	1	0	0	0	0	1	0	0	0	4074	623	22	5	5829	5	CUBN	10	16990512	Missense_Mutation	SNP	C	TCGA-HT-7470-01A-12D-2086-08		16990512	118544235	31	26461											
ANO9	338440	broad.mit.edu	37	11	429780	429780	+	Silent	SNP	G	G	A			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr11:429780G>A	ENST00000332826.6	-	10	894	c.810C>T	c.(808-810)ttC>ttT	p.F270F		NM_001012302.2	NP_001012302	A1A5B4	ANO9_HUMAN	anoctamin 9	270						chloride channel complex	chloride channel activity			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|lung(5)|ovary(1)|prostate(4)|skin(4)	21						TGAAGATGGCGAACACCACCG	0.662													3	32					0	0	1	0	0	A	429780	G	A	429780	2	1	231	1	0	0	0	0	0	0	0	1	698	1049	37	1		1	ANO9	11	429780	Silent	SNP	G	TCGA-HT-7470-01A-12D-2086-08		429780	134576736	32	26462											
OR52E8	390079	broad.mit.edu	37	11	5878264	5878264	+	Nonsense_Mutation	SNP	A	A	C			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr11:5878264A>C	ENST00000537935.1	-	1	700	c.669T>G	c.(667-669)taT>taG	p.Y223*	TRIM5_ENST00000380027.1_Intron	NM_001005168.1	NP_001005168.1	Q6IFG1	O52E8_HUMAN	olfactory receptor, family 52, subfamily E, member 8	223					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	20		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.114)		Epithelial(150;2.37e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGATCCTGACATAGGAGAGAA	0.463													10	25					0	0	1	0	0	C	5878264	A	C	5878264	4	2	231	1	0	0	0	0	0	1	0	0	11166	224	8	4	286	4	OR52E8	11	5878264	Nonsense_Mutation	SNP	A	TCGA-HT-7470-01A-12D-2086-08	5448484	5878264	129128252	33	26463											
LRP4	4038	broad.mit.edu	37	11	46893136	46893136	+	Silent	SNP	G	G	A			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr11:46893136G>A	ENST00000378623.1	-	31	4874	c.4632C>T	c.(4630-4632)ctC>ctT	p.L1544L	LRP4-AS1_ENST00000531719.1_RNA|LRP4-AS1_ENST00000502049.2_RNA	NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	1544					endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		GTTTCCCATTGAGGTCAGCAC	0.557													10	13					0	0	1	0	0	A	46893136	G	A	46893136	2	1	231	1	0	0	0	0	0	0	0	1	9004	1277	45	2		2	LRP4	11	46893136	Silent	SNP	G	TCGA-HT-7470-01A-12D-2086-08	41014872	46893136	88113380	34	26464											
OR4X2	119764	broad.mit.edu	37	11	48266883	48266883	+	Silent	SNP	T	T	C			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr11:48266883T>C	ENST00000302329.3	+	1	276	c.228T>C	c.(226-228)gaT>gaC	p.D76D		NM_001004727.1	NP_001004727.1	Q8NGF9	OR4X2_HUMAN	olfactory receptor, family 4, subfamily X, member 2	76					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(4)|lung(12)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	20						TCATCTCAGATCTGCTGGCTG	0.512													4	123					0	0	1	0	0	C	48266883	T	C	48266883	2	2	231	1	0	0	0	0	0	0	0	1	11133	1432	50	3		3	OR4X2	11	48266883	Silent	SNP	T	TCGA-HT-7470-01A-12D-2086-08	1373747	48266883	86739633	35	26465											
ZW10	9183	broad.mit.edu	37	11	113614641	113614641	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr11:113614641delT	ENST00000200135.3	-	10	1538	c.1394delA	c.(1393-1395)aatfs	p.N465fs		NM_004724.3	NP_004715.1	O43264	ZW10_HUMAN	zw10 kinetochore protein	465					cell division|ER to Golgi vesicle-mediated transport|establishment of mitotic spindle orientation|meiosis|mitotic cell cycle checkpoint|mitotic metaphase plate congression|mitotic prometaphase|protein complex assembly|protein localization to kinetochore|protein transport|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|endoplasmic reticulum membrane|kinetochore microtubule|nucleus|spindle pole	centromeric DNA binding|protein binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	18		all_cancers(61;3.84e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000237)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.94e-06)|Epithelial(105;0.000103)|all cancers(92;0.000786)		GTCCAATGTATTTTCAGGCTC	0.418													64	154	---	---	---	---						-	113614641	T	-	113614641	7	5	231	1	0	1	0	1	0	0	0	0	18287	1493	52	0	973	0	ZW10	11	113614641	Frame_Shift_Del	DEL	T	TCGA-HT-7470-01A-12D-2086-08	65347758	113614641	21391875	36	26466											
HTR3B	9177	broad.mit.edu	37	11	113803068	113803068	+	Silent	SNP	C	C	A			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr11:113803068C>A	ENST00000260191.2	+	5	683	c.426C>A	c.(424-426)acC>acA	p.T142T	HTR3B_ENST00000537778.1_Silent_p.T131T	NM_006028.4	NP_006019.1	O95264	5HT3B_HUMAN	5-hydroxytryptamine (serotonin) receptor 3B, ionotropic	142					synaptic transmission	integral to plasma membrane|postsynaptic membrane	serotonin receptor activity|serotonin-activated cation-selective channel activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(11)	20		all_cancers(61;6.81e-18)|all_epithelial(67;6.67e-11)|all_hematologic(158;4.67e-05)|Melanoma(852;0.000316)|Acute lymphoblastic leukemia(157;0.000976)|Breast(348;0.0101)|Prostate(24;0.0154)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.04e-06)|Epithelial(105;1.98e-05)|all cancers(92;0.000201)|OV - Ovarian serous cystadenocarcinoma(223;0.151)		CATCTGGGACCATTGAGAACT	0.433													15	151					2.35188e-11	2.59518e-11	1	1	0	A	113803068	C	A	113803068	2	1	231	1	0	0	0	0	0	0	0	1	7489	581	21	5		5	HTR3B	11	113803068	Silent	SNP	C	TCGA-HT-7470-01A-12D-2086-08	188427	113803068	21203448	37	26467											
TECTA	7007	broad.mit.edu	37	11	121000839	121000839	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr11:121000839T>C	ENST00000392793.1	+	10	3131	c.2860T>C	c.(2860-2862)Tgt>Cgt	p.C954R	TECTA_ENST00000264037.2_Missense_Mutation_p.C954R			O75443	TECTA_HUMAN	tectorin alpha	954					cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		GTCAGAGCTCTGTGACTCTGT	0.602													4	108					0	0	1	0	0	C	121000839	T	C	121000839	3	2	231	1	0	0	0	0	1	0	0	0	15806	1580	55	3	2894	3	TECTA	11	121000839	Missense_Mutation	SNP	T	TCGA-HT-7470-01A-12D-2086-08	7197771	121000839	14005677	38	26468											
SNX19	399979	broad.mit.edu	37	11	130750571	130750571	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr11:130750571G>A	ENST00000265909.4	-	9	3273	c.2704C>T	c.(2704-2706)Cag>Tag	p.Q902*	SNX19_ENST00000530356.1_Nonsense_Mutation_p.Q282*|SNX19_ENST00000528555.1_Nonsense_Mutation_p.Q282*|SNX19_ENST00000534726.1_Nonsense_Mutation_p.Q142*|SNX19_ENST00000539184.1_Nonsense_Mutation_p.Q345*|SNX19_ENST00000533318.1_5'UTR|SNX19_ENST00000426933.2_Nonsense_Mutation_p.Q70*|SNX19_ENST00000545537.1_Nonsense_Mutation_p.Q142*	NM_014758.2	NP_055573	Q92543	SNX19_HUMAN	sorting nexin 19	902					cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding|protein binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(8)|ovary(3)|prostate(1)|skin(6)|urinary_tract(1)	35	all_hematologic(175;0.0597)	Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233)		GCCAGTTTCTGCTCTTGGGTC	0.517													45	232					0	0	1	0	0	A	130750571	G	A	130750571	4	1	231	1	0	0	0	0	0	1	0	0	14944	1328	46	2	286	2	SNX19	11	130750571	Nonsense_Mutation	SNP	G	TCGA-HT-7470-01A-12D-2086-08	9749732	130750571	4255945	39	26469											
HMGA2	8091	broad.mit.edu	37	12	66221789	66221789	+	Silent	SNP	C	C	T			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr12:66221789C>T	ENST00000541363.1	+	2	493	c.120C>T	c.(118-120)acC>acT	p.T40T	HMGA2_ENST00000403681.2_Silent_p.T40T|HMGA2_ENST00000393578.3_Silent_p.T40T|HMGA2_ENST00000354636.3_Silent_p.T40T|HMGA2_ENST00000425208.2_Silent_p.T40T|HMGA2_ENST00000536545.1_Silent_p.T40T|HMGA2_ENST00000393577.3_Silent_p.T40T			P52926	HMGA2_HUMAN	high mobility group AT-hook 2	40					cell division|chromatin organization|mitosis|multicellular organismal development|regulation of growth|transcription, DNA-dependent	chromatin	AT DNA binding		HMGA2/RAD51B(11)|HMGA2/CCNB1IP1(2)|HMGA2/WIF1_ENST00000286574(14)|HMGA2/ALDH2_ENST00000261733(2)|HMGA2/EBF1(2)|HMGA2/LHFP(2)|HMGA2/NFIB_ENST00000397581(8)|HMGA2/LPP(161)|HMGA2/FHIT_ENST00000476844(4)|HMGA2/COX6C(2)	lung(2)	2	all_cancers(1;5.78e-46)		GBM - Glioblastoma multiforme(1;0.00179)|LUSC - Lung squamous cell carcinoma(43;0.156)	GBM - Glioblastoma multiforme(28;0.0386)		AGGAACCAACCGGTGAGCCCT	0.448			T	" LHFP, RAD51L1, LPP, COX6C, CMKOR1, NFIB, ALDH2, CCNB1IP1, EBF1, WIF1, FHIT"	"lipoma, leiomyoma, pleiomorphic salivary gland adenoma"								4	59					0	0	1	0	0	T	66221789	C	T	66221789	2	4	231	1	0	0	0	0	0	0	0	1	7265	639	23	1		1	HMGA2	12	66221789	Silent	SNP	C	TCGA-HT-7470-01A-12D-2086-08		66221789	67630106	40	26470											
PTPRB	5787	broad.mit.edu	37	12	70954486	70954486	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr12:70954486T>C	ENST00000334414.6	-	17	4441	c.4397A>G	c.(4396-4398)gAt>gGt	p.D1466G	PTPRB_ENST00000551525.1_Missense_Mutation_p.D1465G|PTPRB_ENST00000451516.2_Missense_Mutation_p.D1158G|PTPRB_ENST00000550358.1_Missense_Mutation_p.D1378G|PTPRB_ENST00000261266.5_Missense_Mutation_p.D1248G|PTPRB_ENST00000538708.1_Missense_Mutation_p.D1158G|PTPRB_ENST00000550857.1_Missense_Mutation_p.D1158G	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1248	Fibronectin type-III 17.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			ATTGCTGAGATCTCCACTGTG	0.512													9	50					0	0	1	0	0	C	70954486	T	C	70954486	3	2	231	1	0	0	0	0	1	0	0	0	12848	1435	50	3	2322	3	PTPRB	12	70954486	Missense_Mutation	SNP	T	TCGA-HT-7470-01A-12D-2086-08	4732697	70954486	62897409	41	26471											
SHF	90525	broad.mit.edu	37	15	45470424	45470424	+	Silent	SNP	T	T	C			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr15:45470424T>C	ENST00000290894.8	-	3	878	c.384A>G	c.(382-384)ccA>ccG	p.P128P	SHF_ENST00000318390.6_Silent_p.P185P|RP11-519G16.2_ENST00000560034.1_RNA|SHF_ENST00000561091.1_5'UTR|SHF_ENST00000458022.2_5'UTR|SHF_ENST00000560734.1_Silent_p.P193P|SHF_ENST00000560471.1_Silent_p.P193P|SHF_ENST00000560540.1_Silent_p.P193P	NM_138356.2	NP_612365	B3KTY1	B3KTY1_HUMAN	Src homology 2 domain containing F	128										endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(2)	12		all_cancers(109;8.13e-11)|all_epithelial(112;6.29e-09)|Lung NSC(122;3.57e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;4.1e-16)|GBM - Glioblastoma multiforme(94;5.98e-06)		GGACCTTCTCTGGGGCTCCTG	0.567													16	34					0	0	1	0	0	C	45470424	T	C	45470424	2	2	231	1	0	0	0	0	0	0	0	1	14332	1567	55	3		3	SHF	15	45470424	Silent	SNP	T	TCGA-HT-7470-01A-12D-2086-08		45470424	57060968	42	26472											
TMC3	342125	broad.mit.edu	37	15	81625071	81625071	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr15:81625071C>T	ENST00000558726.1	-	22	3130	c.2995G>A	c.(2995-2997)Gaa>Aaa	p.E999K	RP11-761I4.3_ENST00000560851.1_RNA|TMC3_ENST00000359440.5_Missense_Mutation_p.E998K|RP11-761I4.3_ENST00000559781.1_RNA|RP11-761I4.3_ENST00000560973.1_RNA			Q7Z5M5	TMC3_HUMAN	transmembrane channel-like 3	998						integral to membrane				autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						TCAAAATCTTCATTCCACGAC	0.562													7	25					0	0	1	0	0	T	81625071	C	T	81625071	3	4	231	1	0	0	0	0	1	0	0	0	16046	835	29	2	314	2	TMC3	15	81625071	Missense_Mutation	SNP	C	TCGA-HT-7470-01A-12D-2086-08	36154647	81625071	20906321	43	26473											
RHBDF1	64285	broad.mit.edu	37	16	111434	111434	+	Silent	SNP	G	G	A			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr16:111434G>A	ENST00000262316.6	-	10	1486	c.1344C>T	c.(1342-1344)taC>taT	p.Y448Y	RHBDF1_ENST00000454039.2_Silent_p.Y448Y	NM_022450.3	NP_071895.3	Q96CC6	RHDF1_HUMAN	rhomboid 5 homolog 1 (Drosophila)	448					cell migration|cell proliferation|negative regulation of protein secretion|protein transport|proteolysis|regulation of epidermal growth factor receptor signaling pathway|regulation of proteasomal protein catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	growth factor binding|serine-type endopeptidase activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	18		all_cancers(16;2.56e-05)|all_epithelial(16;0.000116)|Hepatocellular(780;0.0068)|Lung NSC(18;0.0795)|all_lung(18;0.159)				TGACGTTCTCGTAGACCCCGC	0.716													4	40					0	0	1	0	0	A	111434	G	A	111434	2	1	231	1	0	0	0	0	0	0	0	1	13369	1140	40	1		1	RHBDF1	16	111434	Silent	SNP	G	TCGA-HT-7470-01A-12D-2086-08		111434	90243319	44	26474											
PRSS22	64063	broad.mit.edu	37	16	2906139	2906139	+	Silent	SNP	G	G	A			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr16:2906139G>A	ENST00000161006.3	-	3	290	c.225C>T	c.(223-225)tgC>tgT	p.C75C	PRSS22_ENST00000571228.1_Silent_p.C75C|PRSS22_ENST00000574768.1_5'UTR	NM_022119.3	NP_071402.1	Q9GZN4	BSSP4_HUMAN	protease, serine, 22	75	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|skin(2)	10						GAGAACCTGCGCAGTGGTGGG	0.617													14	81					0	0	1	0	0	A	2906139	G	A	2906139	2	1	231	1	0	0	0	0	0	0	0	1	12668	1079	38	1		1	PRSS22	16	2906139	Silent	SNP	G	TCGA-HT-7470-01A-12D-2086-08	2794705	2906139	87448614	45	26475											
ERCC4	2072	broad.mit.edu	37	16	14031642	14031642	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr16:14031642G>A	ENST00000311895.7	+	9	1840	c.1831G>A	c.(1831-1833)Gga>Aga	p.G611R		NM_005236.2	NP_005227.1	Q92889	XPF_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 4	611			Missing (in XP-F).		double-strand break repair via homologous recombination|meiotic mismatch repair|negative regulation of telomere maintenance|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|nucleotide-excision repair, DNA incision, 5'-to lesion|resolution of meiotic recombination intermediates|telomere maintenance via telomere shortening|transcription-coupled nucleotide-excision repair	nuclear chromosome, telomeric region|nucleoplasm|nucleotide-excision repair factor 1 complex	damaged DNA binding|protein C-terminus binding|protein N-terminus binding|single-stranded DNA binding|single-stranded DNA specific endodeoxyribonuclease activity			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(5)|lung(12)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	38						TCTTATATACGGAGGTTCAAC	0.363			"Mis, N, F"			"skin basal cell, skin squamous cell, melanoma"		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				18	45					0	0	1	0	0	A	14031642	G	A	14031642	3	1	231	1	0	0	0	0	1	0	0	0	5243	1117	39	1	1865	1	ERCC4	16	14031642	Missense_Mutation	SNP	G	TCGA-HT-7470-01A-12D-2086-08	11125503	14031642	76323111	46	26476											
ANKRD11	29123	broad.mit.edu	37	16	89348104	89348104	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr16:89348104C>T	ENST00000301030.4	-	9	5306	c.4846G>A	c.(4846-4848)Gga>Aga	p.G1616R	ANKRD11_ENST00000378330.2_Missense_Mutation_p.G1616R	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	1616	Lys-rich.					nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		TTGGGGTCTCCGGACCGGTGC	0.607													21	87					0	0	1	0	0	T	89348104	C	T	89348104	3	4	231	1	0	0	0	0	1	0	0	0	635	661	23	1	3165	1	ANKRD11	16	89348104	Missense_Mutation	SNP	C	TCGA-HT-7470-01A-12D-2086-08	75316462	89348104	1006649	47	26477											
TP53	7157	broad.mit.edu	37	17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	rs121913343		TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr17:7577121G>A	ENST00000420246.2	-	8	949	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000269305.4_Missense_Mutation_p.R273C|TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000445888.2_Missense_Mutation_p.R273C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	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).		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.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			27	11					0	0	1	0	0	A	7577121	G	A	7577121	3	1	231	1	0	0	0	0	1	0	0	0	16442	1087	38	1	469	1	TP53	17	7577121	Missense_Mutation	SNP	G	TCGA-HT-7470-01A-12D-2086-08		7577121	73618089	48	26478											
MYO19	80179	broad.mit.edu	37	17	34866651	34866651	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr17:34866651C>T	ENST00000431794.3	-	13	1613	c.1091G>A	c.(1090-1092)cGg>cAg	p.R364Q	MYO19_ENST00000268852.9_Missense_Mutation_p.R364Q	NM_001163735.1	NP_001157207.1	Q96H55	MYO19_HUMAN	myosin XIX	364	Myosin head-like.					mitochondrial outer membrane|myosin complex	actin binding|ATP binding|motor activity			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|urinary_tract(1)	20		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		GCAGGGCTTCCGGAACACCTG	0.627													6	10					0	0	1	0	0	T	34866651	C	T	34866651	3	4	231	1	0	0	0	0	1	0	0	0	10115	652	23	1	1877	1	MYO19	17	34866651	Missense_Mutation	SNP	C	TCGA-HT-7470-01A-12D-2086-08	27289530	34866651	46328559	49	26479											
ZNF709	163051	broad.mit.edu	37	19	12575498	12575498	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr19:12575498G>A	ENST00000397732.3	-	4	1409	c.1238C>T	c.(1237-1239)aCt>aTt	p.T413I	ZNF709_ENST00000428311.1_Missense_Mutation_p.T413I|CTD-3105H18.18_ENST00000598753.1_Intron	NM_152601.3	NP_689814.1	Q8N972	ZN709_HUMAN	zinc finger protein 709	413					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.T413I(2)		large_intestine(3)|upper_aerodigestive_tract(3)	6						TCCAGTGTGAGTTCTTTCATG	0.418													6	166					0	0	1	0	0	A	12575498	G	A	12575498	3	1	231	1	0	0	0	0	1	0	0	0	18169	1029	36	2	691	2	ZNF709	19	12575498	Missense_Mutation	SNP	G	TCGA-HT-7470-01A-12D-2086-08		12575498	46553485	50	26480											
GCDH	2639	broad.mit.edu	37	19	13006897	13006897	+	Silent	SNP	A	A	G			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr19:13006897A>G	ENST00000222214.5	+	7	808	c.597A>G	c.(595-597)tcA>tcG	p.S199S	GCDH_ENST00000422947.2_Silent_p.S155S|GCDH_ENST00000457854.1_Silent_p.S199S|GCDH_ENST00000591470.1_Silent_p.S199S			Q92947	GCDH_HUMAN	glutaryl-CoA dehydrogenase	199					lysine catabolic process	mitochondrial matrix	flavin adenine dinucleotide binding|glutaryl-CoA dehydrogenase activity|protein binding			autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)	19						ACTACAACTCATCCAACAAGA	0.612													4	115					0	0	1	0	0	G	13006897	A	G	13006897	2	3	231	1	0	0	0	0	0	0	0	1	6327	204	8	3		3	GCDH	19	13006897	Silent	SNP	A	TCGA-HT-7470-01A-12D-2086-08	431399	13006897	46122086	51	26481											
ZNF99	7652	broad.mit.edu	37	19	22939400	22939400	+	Missense_Mutation	SNP	G	G	C			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr19:22939400G>C	ENST00000397104.3	-	7	2770	c.2771C>G	c.(2770-2772)gCt>gGt	p.A924G						zinc finger protein 99											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TTGCTTAAAAGCTTTGCCACA	0.368													3	65					0	0	1	0	0	C	22939400	G	C	22939400	3	2	231	1	0	0	0	0	1	0	0	0	18246	971	34	4	345	4	ZNF99	19	22939400	Missense_Mutation	SNP	G	TCGA-HT-7470-01A-12D-2086-08	9932503	22939400	36189583	52	26482											
FCGBP	8857	broad.mit.edu	37	19	40357728	40357728	+	Silent	SNP	G	G	A			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr19:40357728G>A	ENST00000221347.6	-	34	15592	c.15585C>T	c.(15583-15585)agC>agT	p.S5195S		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	5195	Cys-rich.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			AACAGCGCTCGCTGCAGTCTG	0.587													11	33					0	0	1	0	0	A	40357728	G	A	40357728	2	1	231	1	0	0	0	0	0	0	0	1	5811	1078	38	1		1	FCGBP	19	40357728	Silent	SNP	G	TCGA-HT-7470-01A-12D-2086-08	17418328	40357728	18771255	53	26483											
PAFAH1B3	5050	broad.mit.edu	37	19	42804340	42804340	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr19:42804340C>G	ENST00000538771.1	-	4	624	c.268G>C	c.(268-270)Gaa>Caa	p.E90Q	PAFAH1B3_ENST00000262890.3_Missense_Mutation_p.E90Q	NM_001145939.1|NM_001145940.1	NP_001139411.1|NP_001139412.1	Q15102	PA1B3_HUMAN	platelet-activating factor acetylhydrolase 1b, catalytic subunit 3 (29kDa)	90					lipid catabolic process|nervous system development	cytoplasm	1-alkyl-2-acetylglycerophosphocholine esterase activity|protein binding			breast(1)|large_intestine(2)|ovary(1)	4		Prostate(69;0.0704)				CGGATGTGTTCCAGCTCCCCA	0.562													4	76					0	0	1	0	0	G	42804340	C	G	42804340	3	3	231	1	0	0	0	0	1	0	0	0	11433	864	30	5	439	5	PAFAH1B3	19	42804340	Missense_Mutation	SNP	C	TCGA-HT-7470-01A-12D-2086-08	2446612	42804340	16324643	54	26484											
PPP1R12C	54776	broad.mit.edu	37	19	55605714	55605714	+	Splice_Site	SNP	T	T	G			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr19:55605714T>G	ENST00000263433.3	-	13	1697	c.1682A>C	c.(1681-1683)cAg>cCg	p.Q561P	PPP1R12C_ENST00000376393.2_Splice_Site_p.Q561P|PPP1R12C_ENST00000435544.2_Splice_Site_p.Q487P	NM_001271618.1|NM_017607.2	NP_001258547.1|NP_060077.1	Q9BZL4	PP12C_HUMAN	protein phosphatase 1, regulatory subunit 12C	561						cytoplasm				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	22			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0449)		ACCCCACACCTGTGTGGACCT	0.657													20	102					0	0	1	0	0	G	55605714	T	G	55605714	5	3	231	1	0	0	0	0	0	0	1	0	12405	1594	55	5	706	5	PPP1R12C	19	55605714	Splice_Site	SNP	T	TCGA-HT-7470-01A-12D-2086-08	12801374	55605714	3523269	55	26485											
TMC2	117532	broad.mit.edu	37	20	2592978	2592978	+	Missense_Mutation	SNP	G	G	C	rs138720906		TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr20:2592978G>C	ENST00000358864.1	+	13	1750	c.1735G>C	c.(1735-1737)Gtg>Ctg	p.V579L	TMC2_ENST00000496948.1_3'UTR	NM_080751.2	NP_542789.2	Q8TDI7	TMC2_HUMAN	transmembrane channel-like 2	579						integral to membrane				NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						GGAGACAGCTGTGGGCATTGT	0.488													8	126					0	0	1	0	0	C	2592978	G	C	2592978	3	2	231	1	0	0	0	0	1	0	0	0	16045	1377	48	5	1785	5	TMC2	20	2592978	Missense_Mutation	SNP	G	TCGA-HT-7470-01A-12D-2086-08		2592978	60432542	56	26486											
LAMA5	3911	broad.mit.edu	37	20	60886842	60886843	+	Splice_Site	INS	-	-	G			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr20:60886842_60886843insG	ENST00000252999.3	-	71	9702		c.e71-2			NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5						angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AGCCAGACTCTGGGGGGCGGGA	0.698													5	6	---	---	---	---						G	60886843	-	G	60886842	8	5	231	1	0	1	1	0	0	0	1	0	8648	1594	55	0	1493	0	LAMA5	20	60886842	Splice_Site	INS	-	TCGA-HT-7470-01A-12D-2086-08	58293864	60886842	2138678	57	26487											
PARVB	29780	broad.mit.edu	37	22	44532367	44532367	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr22:44532367C>G	ENST00000338758.7	+	7	724	c.661C>G	c.(661-663)Cac>Gac	p.H221D	PARVB_ENST00000404989.1_Missense_Mutation_p.H184D|PARVB_ENST00000406477.3_Missense_Mutation_p.H254D	NM_013327.4	NP_037459.2	Q9HBI1	PARVB_HUMAN	parvin, beta						cell adhesion|cell junction assembly	cytoskeleton|cytosol|focal adhesion	actin binding			NS(1)|breast(1)|endometrium(3)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	25		Ovarian(80;0.0246)|all_neural(38;0.0423)				GCATTCCAGCCACATCTCGGA	0.557													4	122					0	0	1	0	0	G	44532367	C	G	44532367	3	3	231	1	0	0	0	0	1	0	0	0	11516	594	21	5	906	5	PARVB	22	44532367	Missense_Mutation	SNP	C	TCGA-HT-7470-01A-12D-2086-08		44532367	6772199	58	26488											
FAM47C	442444	broad.mit.edu	37	X	37028425	37028425	+	Missense_Mutation	SNP	A	A	G	rs145580328	byFrequency	TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chrX:37028425A>G	ENST00000358047.3	+	1	1994	c.1942A>G	c.(1942-1944)Aat>Gat	p.N648D		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	648								p.N648D(7)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						GGAGCCTCCCAATACTGGAGT	0.642													3	72					0	0	1	0	0	G	37028425	A	G	37028425	3	3	231	1	0	0	0	0	1	0	0	0	5607	130	5	3	1944	3	FAM47C	23	37028425	Missense_Mutation	SNP	A	TCGA-HT-7470-01A-12D-2086-08		37028425	118242135	59	26489											
AKAP4	8852	broad.mit.edu	37	X	49958837	49958837	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chrX:49958837C>T	ENST00000376056.2	-	5	650	c.500G>A	c.(499-501)cGt>cAt	p.R167H	AKAP4_ENST00000376064.3_Missense_Mutation_p.R167H|AKAP4_ENST00000481402.1_5'UTR|AKAP4_ENST00000376058.2_Missense_Mutation_p.R167H|AKAP4_ENST00000358526.2_Missense_Mutation_p.R176H			Q5JQC9	AKAP4_HUMAN	A kinase (PRKA) anchor protein 4	176					cell projection organization|single fertilization|sperm motility	cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum	protein kinase A binding			NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41	Ovarian(276;0.236)					CATTTCTAGACGTAGGTTTTG	0.443													44	51					0	0	1	0	0	T	49958837	C	T	49958837	3	4	231	1	0	0	0	0	1	0	0	0	450	536	19	1	2045	1	AKAP4	23	49958837	Missense_Mutation	SNP	C	TCGA-HT-7470-01A-12D-2086-08	12930412	49958837	105311723	60	26490											
ATRX	546	broad.mit.edu	37	X	76874329	76874330	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chrX:76874329_76874330insT	ENST00000373344.5	-	21	5606_5607	c.5392_5393insA	c.(5392-5394)agafs	p.R1798fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Ins_p.R1760fs	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1798					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)	TTTCATCACTCTGACATCTACC	0.322			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						82	51	---	---	---	---						T	76874330	-	T	76874329	7	5	231	1	0	1	1	0	0	0	0	0	1206	913	32	0	2145	0	ATRX	23	76874329	Frame_Shift_Ins	INS	-	TCGA-HT-7470-01A-12D-2086-08	26915492	76874329	78396231	61	26491											
FUBP1	8880	broad.mit.edu	37	1	78430773	78430773	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HT-7471-01A-11D-2253-08	TCGA-HT-7471-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06425414-a57c-40df-905e-290fa2086153	d0b349eb-d50b-43ec-903d-e8494d8705ca	g.chr1:78430773C>A	ENST00000370767.1	-	8	703	c.616G>T	c.(616-618)Gaa>Taa	p.E206*	FUBP1_ENST00000370768.2_Nonsense_Mutation_p.E206*|FUBP1_ENST00000436586.2_Nonsense_Mutation_p.E227*			Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1	206	KH 2.				transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						TTAATAGTTTCTCCCCCTTTT	0.393			"F, N"		oligodendroglioma								105	29					3.41453e-61	3.69138e-61	1	1	0	A	78430773	C	A	78430773	4	1	232	1	0	0	0	0	0	1	0	0	6127	922	32	4	1370	4	FUBP1	1	78430773	Nonsense_Mutation	SNP	C	TCGA-HT-7471-01A-11D-2253-08		78430773	170819848	1	26492											
KIAA1324	57535	broad.mit.edu	37	1	109707134	109707134	+	Silent	SNP	C	C	T	rs144842352		TCGA-HT-7471-01A-11D-2253-08	TCGA-HT-7471-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06425414-a57c-40df-905e-290fa2086153	d0b349eb-d50b-43ec-903d-e8494d8705ca	g.chr1:109707134C>T	ENST00000369939.3	+	3	471	c.288C>T	c.(286-288)aaC>aaT	p.N96N	KIAA1324_ENST00000529753.1_Silent_p.N96N	NM_020775.4	NP_065826	Q6UXG2	K1324_HUMAN	KIAA1324	96					macroautophagy|positive regulation of vacuole organization|regulation of apoptosis	integral to plasma membrane				NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063)		Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249)		TCTCCTGCAACGCCGGGGAGT	0.592													76	18					0	0	1	0	0	T	109707134	C	T	109707134	2	4	232	1	0	0	0	0	0	0	0	1	8265	535	19	1		1	KIAA1324	1	109707134	Silent	SNP	C	TCGA-HT-7471-01A-11D-2253-08	31276361	109707134	139543487	2	26493											
ADCY10	55811	broad.mit.edu	37	1	167870912	167870912	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HT-7471-01A-11D-2253-08	TCGA-HT-7471-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06425414-a57c-40df-905e-290fa2086153	d0b349eb-d50b-43ec-903d-e8494d8705ca	g.chr1:167870912G>A	ENST00000367848.1	-	5	645	c.148C>T	c.(148-150)Cga>Tga	p.R50*	ADCY10_ENST00000367851.4_Nonsense_Mutation_p.R142*|ADCY10_ENST00000545172.1_Intron			Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	142	Guanylate cyclase 1.				intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						ATCTTGACTCGGATGTCTAGG	0.463													76	84					0	0	1	0	0	A	167870912	G	A	167870912	4	1	232	1	0	0	0	0	0	1	0	0	292	1124	39	1	4524	1	ADCY10	1	167870912	Nonsense_Mutation	SNP	G	TCGA-HT-7471-01A-11D-2253-08	58163778	167870912	81379709	3	26494											
CACNA1E	777	broad.mit.edu	37	1	181765891	181765891	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7471-01A-11D-2253-08	TCGA-HT-7471-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06425414-a57c-40df-905e-290fa2086153	d0b349eb-d50b-43ec-903d-e8494d8705ca	g.chr1:181765891G>A	ENST00000526775.1	+	45	6275	c.6110G>A	c.(6109-6111)cGc>cAc	p.R2037H	CACNA1E_ENST00000357570.5_Missense_Mutation_p.R2050H|CACNA1E_ENST00000367573.2_Missense_Mutation_p.R2099H|CACNA1E_ENST00000358338.5_Missense_Mutation_p.R1988H|CACNA1E_ENST00000367567.4_Missense_Mutation_p.R1663H|CACNA1E_ENST00000367570.1_Missense_Mutation_p.R2056H|CACNA1E_ENST00000360108.3_Missense_Mutation_p.R2080H	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	2099					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						GATGTCTCCCGCTGCAATTCA	0.602													3	15					0	0	1	0	0	A	181765891	G	A	181765891	3	1	232	1	0	0	0	0	1	0	0	0	2560	1087	38	1	6349	1	CACNA1E	1	181765891	Missense_Mutation	SNP	G	TCGA-HT-7471-01A-11D-2253-08	13894979	181765891	67484730	4	26495											
FMN2	56776	broad.mit.edu	37	1	240371421	240371421	+	Silent	SNP	C	C	T			TCGA-HT-7471-01A-11D-2253-08	TCGA-HT-7471-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06425414-a57c-40df-905e-290fa2086153	d0b349eb-d50b-43ec-903d-e8494d8705ca	g.chr1:240371421C>T	ENST00000319653.9	+	5	3539	c.3309C>T	c.(3307-3309)ccC>ccT	p.P1103P		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1103	FH1.|Pro-rich.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	p.P1246P(2)		NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CCCCTCTACCCGGAGTGGGCA	0.736													5	182					0	0	1	0	0	T	240371421	C	T	240371421	2	4	232	1	0	0	0	0	0	0	0	1	5983	639	23	1		1	FMN2	1	240371421	Silent	SNP	C	TCGA-HT-7471-01A-11D-2253-08	58605530	240371421	8879200	5	26496											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-HT-7471-01A-11D-2253-08	TCGA-HT-7471-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06425414-a57c-40df-905e-290fa2086153	d0b349eb-d50b-43ec-903d-e8494d8705ca	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	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								42	54					0	0	1	0	0	T	209113112	C	T	209113112	3	4	232	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HT-7471-01A-11D-2253-08		209113112	34086261	6	26497											
STAB1	23166	broad.mit.edu	37	3	52552602	52552602	+	Silent	SNP	C	C	T			TCGA-HT-7471-01A-11D-2253-08	TCGA-HT-7471-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06425414-a57c-40df-905e-290fa2086153	d0b349eb-d50b-43ec-903d-e8494d8705ca	g.chr3:52552602C>T	ENST00000321725.6	+	47	4936	c.4860C>T	c.(4858-4860)caC>caT	p.H1620H		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	1620	FAS1 5.				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		TCGTGCCGCACGCAGATCTAA	0.627													4	7					0	0	1	0	0	T	52552602	C	T	52552602	2	4	232	1	0	0	0	0	0	0	0	1	15293	535	19	1		1	STAB1	3	52552602	Silent	SNP	C	TCGA-HT-7471-01A-11D-2253-08		52552602	145469828	7	26498											
SLC6A3	6531	broad.mit.edu	37	5	1409836	1409836	+	Splice_Site	SNP	G	G	A	rs2270912	byFrequency	TCGA-HT-7471-01A-11D-2253-08	TCGA-HT-7471-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06425414-a57c-40df-905e-290fa2086153	d0b349eb-d50b-43ec-903d-e8494d8705ca	g.chr5:1409836G>A	ENST00000270349.9	-	10	1525	c.1398C>T	c.(1396-1398)aaC>aaT	p.N466N	SLC6A3_ENST00000453492.2_Splice_Site_p.N466N	NM_001044.4	NP_001035.1	Q01959	SC6A3_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 3	466					cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body				breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)	TGGTACGTACGTTGGTGACGC	0.617													34	44					0	0	1	0	0	A	1409836	G	A	1409836	5	1	232	1	0	0	0	0	0	0	1	0	14740	1159	40	1	488	1	SLC6A3	5	1409836	Splice_Site	SNP	G	TCGA-HT-7471-01A-11D-2253-08		1409836	179505424	8	26499											
GCM1	8521	broad.mit.edu	37	6	52993190	52993190	+	Silent	SNP	G	G	A			TCGA-HT-7471-01A-11D-2253-08	TCGA-HT-7471-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06425414-a57c-40df-905e-290fa2086153	d0b349eb-d50b-43ec-903d-e8494d8705ca	g.chr6:52993190G>A	ENST00000259803.7	-	6	1336	c.1125C>T	c.(1123-1125)taC>taT	p.Y375Y		NM_003643.3	NP_003634.2	Q9NP62	GCM1_HUMAN	glial cells missing homolog 1 (Drosophila)	375						transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|skin(1)	24	Lung NSC(77;0.0755)					GAGACTGGACGTAGCTGTTAA	0.483													5	186					0	0	1	0	0	A	52993190	G	A	52993190	2	1	232	1	0	0	0	0	0	0	0	1	6337	1140	40	1		1	GCM1	6	52993190	Silent	SNP	G	TCGA-HT-7471-01A-11D-2253-08		52993190	118121877	9	26500											
TTYH3	80727	broad.mit.edu	37	7	2698612	2698612	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7471-01A-11D-2253-08	TCGA-HT-7471-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06425414-a57c-40df-905e-290fa2086153	d0b349eb-d50b-43ec-903d-e8494d8705ca	g.chr7:2698612A>G	ENST00000258796.7	+	13	1668	c.1463A>G	c.(1462-1464)aAc>aGc	p.N488S	TTYH3_ENST00000403167.1_Missense_Mutation_p.N317S|TTYH3_ENST00000407643.1_Missense_Mutation_p.N456S	NM_025250.2	NP_079526.1	Q9C0H2	TTYH3_HUMAN	tweety family member 3	488						chloride channel complex|plasma membrane	chloride channel activity			kidney(1)|large_intestine(3)|lung(9)|prostate(2)|upper_aerodigestive_tract(2)	17		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;2.04e-14)		CGCTGTGAGAACACCCCACTC	0.642													95	131					0	0	1	0	0	G	2698612	A	G	2698612	3	3	232	1	0	0	0	0	1	0	0	0	16803	43	2	3	1513	3	TTYH3	7	2698612	Missense_Mutation	SNP	A	TCGA-HT-7471-01A-11D-2253-08		2698612	156440051	10	26501											
MET	4233	broad.mit.edu	37	7	116436092	116436092	+	Missense_Mutation	SNP	G	G	A	rs45578433	by1000genomes	TCGA-HT-7471-01A-11D-2253-08	TCGA-HT-7471-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06425414-a57c-40df-905e-290fa2086153	d0b349eb-d50b-43ec-903d-e8494d8705ca	g.chr7:116436092G>A	ENST00000397752.3	+	21	4287	c.4087G>A	c.(4087-4089)Gct>Act	p.A1363T	MET_ENST00000539704.1_Missense_Mutation_p.A233T|MET_ENST00000318493.6_Missense_Mutation_p.A1381T	NM_000245.2|NM_001127500.1	NP_000236.2|NP_001120972.1	P08581	MET_HUMAN	met proto-oncogene	1363	Interaction with RANBP9.				axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			AAAATGTGTCGCTCCGTATCC	0.463			Mis		"papillary renal, head-neck squamous cell "	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)				4	183					0	0	1	0	0	A	116436092	G	A	116436092	3	1	232	1	0	0	0	0	1	0	0	0	9535	1087	38	1	4219	1	MET	7	116436092	Missense_Mutation	SNP	G	TCGA-HT-7471-01A-11D-2253-08	113737480	116436092	42702571	11	26502											
MYO3A	53904	broad.mit.edu	37	10	26500833	26500833	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7471-01A-11D-2253-08	TCGA-HT-7471-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06425414-a57c-40df-905e-290fa2086153	d0b349eb-d50b-43ec-903d-e8494d8705ca	g.chr10:26500833G>A	ENST00000265944.5	+	35	4958	c.4792G>A	c.(4792-4794)Gac>Aac	p.D1598N	MYO3A_ENST00000543632.1_Missense_Mutation_p.R613Q	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	1598					protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						CAACCCCTACGACTTCAGGAG	0.652													5	11					0	0	1	0	0	A	26500833	G	A	26500833	3	1	232	1	0	0	0	0	1	0	0	0	10124	1058	37	1	4922	1	MYO3A	10	26500833	Missense_Mutation	SNP	G	TCGA-HT-7471-01A-11D-2253-08		26500833	109033914	12	26503											
BMPR1A	657	broad.mit.edu	37	10	88681327	88681327	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7471-01A-11D-2253-08	TCGA-HT-7471-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06425414-a57c-40df-905e-290fa2086153	d0b349eb-d50b-43ec-903d-e8494d8705ca	g.chr10:88681327G>A	ENST00000372037.3	+	11	1754	c.1217G>A	c.(1216-1218)cGc>cAc	p.R406H		NM_004329.2	NP_004320.2	P36894	BMR1A_HUMAN	bone morphogenetic protein receptor, type IA		Protein kinase.				BMP signaling pathway|immune response|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway	integral to membrane|plasma membrane	ATP binding|metal ion binding|protein homodimerization activity|SMAD binding|transforming growth factor beta receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|skin(1)|stomach(1)	24						GGCACCAAACGCTACATGGCT	0.473			"Mis, N, F"			gastrointestinal polyps			Juvenile Polyposis;Hereditary Mixed Polyposis syndrome type 2				4	157					0	0	1	0	0	A	88681327	G	A	88681327	3	1	232	1	0	0	0	0	1	0	0	0	1468	1087	38	1	1251	1	BMPR1A	10	88681327	Missense_Mutation	SNP	G	TCGA-HT-7471-01A-11D-2253-08	62180494	88681327	46853420	13	26504											
CHST15	51363	broad.mit.edu	37	10	125780796	125780796	+	Missense_Mutation	SNP	G	G	C			TCGA-HT-7471-01A-11D-2253-08	TCGA-HT-7471-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06425414-a57c-40df-905e-290fa2086153	d0b349eb-d50b-43ec-903d-e8494d8705ca	g.chr10:125780796G>C	ENST00000346248.5	-	6	1965	c.1323C>G	c.(1321-1323)aaC>aaG	p.N441K	CHST15_ENST00000435907.1_Missense_Mutation_p.N441K|CHST15_ENST00000421115.1_Missense_Mutation_p.N441K	NM_015892.4	NP_056976.2	Q7LFX5	CHSTF_HUMAN	carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15	441					hexose biosynthetic process	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity			endometrium(4)|kidney(1)|large_intestine(11)|lung(6)|ovary(3)|stomach(1)	26						TGAGGGTGTTGTTGTAGACGC	0.542													10	10					0	0	1	0	0	C	125780796	G	C	125780796	3	2	232	1	0	0	0	0	1	0	0	0	3425	1368	48	5	374	5	CHST15	10	125780796	Missense_Mutation	SNP	G	TCGA-HT-7471-01A-11D-2253-08	37099469	125780796	9753951	14	26505											
RBM4	5936	broad.mit.edu	37	11	66411034	66411035	+	Frame_Shift_Ins	INS	-	-	CGATAGAT			TCGA-HT-7471-01A-11D-2253-08	TCGA-HT-7471-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06425414-a57c-40df-905e-290fa2086153	d0b349eb-d50b-43ec-903d-e8494d8705ca	g.chr11:66411034_66411035insCGATAGAT	ENST00000409406.1	+	2	1303_1304	c.526_527insCGATAGAT	c.(526-528)ccgfs	p.-178fs	RBM4_ENST00000503028.2_Frame_Shift_Ins_p.-178fs|RBM4_ENST00000506523.2_Intron|RBM14-RBM4_ENST00000412278.2_Frame_Shift_Ins_p.-153fs|RBM4_ENST00000396053.4_Intron|RBM4_ENST00000530235.1_Intron|RBM14-RBM4_ENST00000500635.2_Intron|RBM4_ENST00000514361.3_Frame_Shift_Ins_p.-153fs|RBM4_ENST00000408993.2_Frame_Shift_Ins_p.-178fs|RBM4_ENST00000578778.1_Intron|RBM4_ENST00000398692.4_Intron|RBM4_ENST00000310092.7_Frame_Shift_Ins_p.-178fs					RNA binding motif protein 4											endometrium(3)|large_intestine(4)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13				Lung(977;0.0112)|LUSC - Lung squamous cell carcinoma(976;0.0266)		CAAAGAGTGTCCGATAGATCGT	0.579													14	81	---	---	---	---						CGATAGAT	66411035	-	CGATAGAT	66411034	7	5	232	1	0	1	1	0	0	0	0	0	13186	855	30	0	532	0	RBM4	11	66411034	Frame_Shift_Ins	INS	-	TCGA-HT-7471-01A-11D-2253-08		66411034	68595482	15	26506											
ETS1	2113	broad.mit.edu	37	11	128426243	128426243	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7471-01A-11D-2253-08	TCGA-HT-7471-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06425414-a57c-40df-905e-290fa2086153	d0b349eb-d50b-43ec-903d-e8494d8705ca	g.chr11:128426243A>G	ENST00000392668.4	-	3	241	c.157T>C	c.(157-159)Ttt>Ctt	p.F53L	ETS1_ENST00000525404.1_5'UTR	NM_001143820.1	NP_001137292.1	P14921	ETS1_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog 1		PNT.				cell motility|immune response|induction of apoptosis|negative regulation of cell cycle|negative regulation of cell proliferation|PML body organization|positive regulation of cellular component movement|positive regulation of erythrocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|response to antibiotic|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|pleura(1)|prostate(1)|upper_aerodigestive_tract(3)	35	all_hematologic(175;0.0537)	Lung NSC(97;0.000542)|all_lung(97;0.000665)|Breast(109;0.00765)|all_neural(223;0.0351)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;1.47e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0174)|LUSC - Lung squamous cell carcinoma(976;0.0815)|Lung(307;0.0833)		TCATCCCAAAAGGGGTAGCAA	0.448													3	82					0	0	1	0	0	G	128426243	A	G	128426243	3	3	232	1	0	0	0	0	1	0	0	0	5303	72	3	3	1418	3	ETS1	11	128426243	Missense_Mutation	SNP	A	TCGA-HT-7471-01A-11D-2253-08	62015209	128426243	6580273	16	26507											
PZP	5858	broad.mit.edu	37	12	9309931	9309931	+	Silent	SNP	G	G	A			TCGA-HT-7471-01A-11D-2253-08	TCGA-HT-7471-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06425414-a57c-40df-905e-290fa2086153	d0b349eb-d50b-43ec-903d-e8494d8705ca	g.chr12:9309931G>A	ENST00000261336.2	-	28	3418	c.3390C>T	c.(3388-3390)gcC>gcT	p.A1130A	PZP_ENST00000381997.2_Silent_p.A916A	NM_002864.2	NP_002855.2			pregnancy-zone protein											breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						GGCAGAACAGGGCATTGCGAA	0.507													4	122					0	0	1	0	0	A	9309931	G	A	9309931	2	1	232	1	0	0	0	0	0	0	0	1	12921	1219	43	2		2	PZP	12	9309931	Silent	SNP	G	TCGA-HT-7471-01A-11D-2253-08		9309931	124541964	17	26508											
CCNT1	904	broad.mit.edu	37	12	49087565	49087565	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HT-7471-01A-11D-2253-08	TCGA-HT-7471-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06425414-a57c-40df-905e-290fa2086153	d0b349eb-d50b-43ec-903d-e8494d8705ca	g.chr12:49087565C>A	ENST00000261900.3	-	9	1654	c.1432G>T	c.(1432-1434)Gag>Tag	p.E478*		NM_001240.3	NP_001231.2	O60563	CCNT1_HUMAN	cyclin T1	478					cell cycle|cell division|interspecies interaction between organisms|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	DNA binding|protein kinase binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|skin(2)	27						TTTATCTCCTCTGGTTTTGAA	0.453													36	65					1.836e-18	1.93263e-18	1	1	0	A	49087565	C	A	49087565	4	1	232	1	0	0	0	0	0	1	0	0	2956	922	32	4	752	4	CCNT1	12	49087565	Nonsense_Mutation	SNP	C	TCGA-HT-7471-01A-11D-2253-08	39777634	49087565	84764330	18	26509											
CHRNA3	1136	broad.mit.edu	37	15	78894483	78894483	+	Silent	SNP	C	C	T			TCGA-HT-7471-01A-11D-2253-08	TCGA-HT-7471-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06425414-a57c-40df-905e-290fa2086153	d0b349eb-d50b-43ec-903d-e8494d8705ca	g.chr15:78894483C>T	ENST00000326828.5	-	5	885	c.501G>A	c.(499-501)ccG>ccA	p.P167P	CHRNA3_ENST00000348639.3_Silent_p.P167P	NM_000743.4	NP_000734.2	P32297	ACHA3_HUMAN	cholinergic receptor, nicotinic, alpha 3 (neuronal)	167					activation of transmembrane receptor protein tyrosine kinase activity|behavioral response to nicotine|locomotory behavior|regulation of acetylcholine secretion|regulation of dendrite morphogenesis|regulation of excitatory postsynaptic membrane potential|regulation of smooth muscle contraction|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|dendrite|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic density|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						GGTAATCAAACGGGAAGTAGG	0.483													28	137					0	0	1	0	0	T	78894483	C	T	78894483	2	4	232	1	0	0	0	0	0	0	0	1	3406	523	19	1		1	CHRNA3	15	78894483	Silent	SNP	C	TCGA-HT-7471-01A-11D-2253-08		78894483	23636909	19	26510											
MYH4	4622	broad.mit.edu	37	17	10355562	10355562	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7471-01A-11D-2253-08	TCGA-HT-7471-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06425414-a57c-40df-905e-290fa2086153	d0b349eb-d50b-43ec-903d-e8494d8705ca	g.chr17:10355562C>T	ENST00000255381.2	-	27	3544	c.3434G>A	c.(3433-3435)cGg>cAg	p.R1145Q	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1145					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.R1145L(1)		NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						CTCCAGCTCCCGGGAGAGGTC	0.592													6	155					0	0	1	0	0	T	10355562	C	T	10355562	3	4	232	1	0	0	0	0	1	0	0	0	10085	652	23	1	2441	1	MYH4	17	10355562	Missense_Mutation	SNP	C	TCGA-HT-7471-01A-11D-2253-08		10355562	70839648	20	26511											
TMC8	147138	broad.mit.edu	37	17	76130033	76130033	+	Silent	SNP	G	G	A			TCGA-HT-7471-01A-11D-2253-08	TCGA-HT-7471-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06425414-a57c-40df-905e-290fa2086153	d0b349eb-d50b-43ec-903d-e8494d8705ca	g.chr17:76130033G>A	ENST00000318430.5	+	7	1142	c.768G>A	c.(766-768)gtG>gtA	p.V256V	TMC8_ENST00000589691.1_Silent_p.V33V	NM_152468.4	NP_689681.2	Q8IU68	TMC8_HUMAN	transmembrane channel-like 8	256						endoplasmic reticulum membrane|integral to membrane				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)|OV - Ovarian serous cystadenocarcinoma(97;0.192)			GCATCCGGGTGCAGGAAGCAG	0.577													31	35					0	0	1	0	0	A	76130033	G	A	76130033	2	1	232	1	0	0	0	0	0	0	0	1	16051	1306	46	2		2	TMC8	17	76130033	Silent	SNP	G	TCGA-HT-7471-01A-11D-2253-08	65774471	76130033	5065177	21	26512											
GATA6	2627	broad.mit.edu	37	18	19751533	19751533	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7471-01A-11D-2253-08	TCGA-HT-7471-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06425414-a57c-40df-905e-290fa2086153	d0b349eb-d50b-43ec-903d-e8494d8705ca	g.chr18:19751533A>G	ENST00000269216.3	+	2	705	c.428A>G	c.(427-429)cAg>cGg	p.Q143R	GATA6_ENST00000581694.1_Missense_Mutation_p.Q143R	NM_005257.4	NP_005248.2	Q92908	GATA6_HUMAN	GATA binding protein 6	143					blood coagulation|cardiac vascular smooth muscle cell differentiation|cellular response to hypoxia|intestinal epithelial cell differentiation|male gonad development|negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor-beta1 production|negative regulation of transforming growth factor-beta2 production|outflow tract septum morphogenesis|positive regulation of angiogenesis|positive regulation of cell cycle arrest|positive regulation of transcription from RNA polymerase II promoter|response to drug|response to growth factor stimulus		protein binding|protein kinase binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	18	all_cancers(21;0.00271)|all_epithelial(16;7.31e-05)|Ovarian(2;0.116)|Lung NSC(20;0.123)|all_lung(20;0.246)		STAD - Stomach adenocarcinoma(5;0.106)			GCACCCGAGCAGCCGGAGGAG	0.716													6	33					0	0	1	0	0	G	19751533	A	G	19751533	3	3	232	1	0	0	0	0	1	0	0	0	6298	188	7	3	430	3	GATA6	18	19751533	Missense_Mutation	SNP	A	TCGA-HT-7471-01A-11D-2253-08		19751533	58325715	22	26513											
MUC16	94025	broad.mit.edu	37	19	9090831	9090831	+	Silent	SNP	A	A	G			TCGA-HT-7471-01A-11D-2253-08	TCGA-HT-7471-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06425414-a57c-40df-905e-290fa2086153	d0b349eb-d50b-43ec-903d-e8494d8705ca	g.chr19:9090831A>G	ENST00000397910.4	-	1	1187	c.984T>C	c.(982-984)ccT>ccC	p.P328P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	328	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TCATGGAAAAAGGGATAGCTG	0.522													4	76					0	0	1	0	0	G	9090831	A	G	9090831	2	3	232	1	0	0	0	0	0	0	0	1	10021	59	3	3		3	MUC16	19	9090831	Silent	SNP	A	TCGA-HT-7471-01A-11D-2253-08		9090831	50038152	23	26514											
ATP13A1	57130	broad.mit.edu	37	19	19758334	19758334	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7471-01A-11D-2253-08	TCGA-HT-7471-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06425414-a57c-40df-905e-290fa2086153	d0b349eb-d50b-43ec-903d-e8494d8705ca	g.chr19:19758334G>A	ENST00000357324.6	-	21	2823	c.2797C>T	c.(2797-2799)Cgc>Tgc	p.R933C	ATP13A1_ENST00000291503.5_Missense_Mutation_p.R815C	NM_020410.2	NP_065143.2	Q9HD20	AT131_HUMAN	ATPase type 13A1	933					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						TGGCTCAGGCGGTCCTGCAGG	0.637													3	22					0	0	1	0	0	A	19758334	G	A	19758334	3	1	232	1	0	0	0	0	1	0	0	0	1122	1116	39	1	841	1	ATP13A1	19	19758334	Missense_Mutation	SNP	G	TCGA-HT-7471-01A-11D-2253-08	10667503	19758334	39370649	24	26515											
CIC	23152	broad.mit.edu	37	19	42794411	42794411	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HT-7471-01A-11D-2253-08	TCGA-HT-7471-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06425414-a57c-40df-905e-290fa2086153	d0b349eb-d50b-43ec-903d-e8494d8705ca	g.chr19:42794411delT	ENST00000572681.2	+	11	4286	c.4218delT	c.(4216-4218)cctfs	p.P1406fs	CIC_ENST00000575354.2_Frame_Shift_Del_p.P497fs|CIC_ENST00000160740.3_Frame_Shift_Del_p.P497fs			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	497					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				TGTTTTCACCTGTGATCCGTT	0.617			"Mis, F, S"		oligodendroglioma								82	27	---	---	---	---						-	42794411	T	-	42794411	7	5	232	1	0	1	0	1	0	0	0	0	3446	1567	55	0	1529	0	CIC	19	42794411	Frame_Shift_Del	DEL	T	TCGA-HT-7471-01A-11D-2253-08	23036077	42794411	16334572	25	26516											
ZNF761	388561	broad.mit.edu	37	19	53959188	53959188	+	RNA	SNP	G	G	A	rs144532705		TCGA-HT-7471-01A-11D-2253-08	TCGA-HT-7471-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06425414-a57c-40df-905e-290fa2086153	d0b349eb-d50b-43ec-903d-e8494d8705ca	g.chr19:53959188G>A	ENST00000454407.1	+	0	1880							Q86XN6	ZN761_HUMAN	zinc finger protein 761						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		AAAGCTTTCCGTTTCAAATCA	0.423													36	2					0	0	1	0	0	A	53959188	G	A	53959188	1	1	232	0	1	0	0	0	0	0	0	0	18186	1145	40	1		1	ZNF761	19	53959188	RNA	SNP	G	TCGA-HT-7471-01A-11D-2253-08	11164777	53959188	5169795	26	26517											
ZNF512B	57473	broad.mit.edu	37	20	62598777	62598777	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7471-01A-11D-2253-08	TCGA-HT-7471-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06425414-a57c-40df-905e-290fa2086153	d0b349eb-d50b-43ec-903d-e8494d8705ca	g.chr20:62598777T>C	ENST00000450537.1	-	3	281	c.221A>G	c.(220-222)aAg>aGg	p.K74R	ZNF512B_ENST00000217130.3_Missense_Mutation_p.K74R|ZNF512B_ENST00000369888.1_Missense_Mutation_p.K74R			Q96KM6	Z512B_HUMAN	zinc finger protein 512B	74					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1)	33	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					TGGCCGCCCCTTTTTCTTCCC	0.632													3	125					0	0	1	0	0	C	62598777	T	C	62598777	3	2	232	1	0	0	0	0	1	0	0	0	18014	1609	56	3	2517	3	ZNF512B	20	62598777	Missense_Mutation	SNP	T	TCGA-HT-7471-01A-11D-2253-08		62598777	426743	27	26518											
SON	6651	broad.mit.edu	37	21	34924118	34924118	+	Missense_Mutation	SNP	A	A	G	rs142324795		TCGA-HT-7471-01A-11D-2253-08	TCGA-HT-7471-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06425414-a57c-40df-905e-290fa2086153	d0b349eb-d50b-43ec-903d-e8494d8705ca	g.chr21:34924118A>G	ENST00000356577.4	+	3	3056	c.2581A>G	c.(2581-2583)Atg>Gtg	p.M861V	SON_ENST00000381679.4_Missense_Mutation_p.M861V|SON_ENST00000290239.6_Missense_Mutation_p.M861V|SON_ENST00000300278.4_Missense_Mutation_p.M861V|SON_ENST00000381692.2_Intron	NM_138927.1	NP_620305	P18583	SON_HUMAN	SON DNA binding protein	861	17 X 10 AA tandem repeats of L-A-[ST]- [NSG]-[TS]-MDSQM.				anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding			breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						AACTAGCTCAATGGATTCCCA	0.493													81	112					0	0	1	0	0	G	34924118	A	G	34924118	3	3	232	1	0	0	0	0	1	0	0	0	14980	101	4	3	2591	3	SON	21	34924118	Missense_Mutation	SNP	A	TCGA-HT-7471-01A-11D-2253-08		34924118	13205777	28	26519											
LRRC3	81543	broad.mit.edu	37	21	45876870	45876870	+	Silent	SNP	C	C	T	rs138458454		TCGA-HT-7471-01A-11D-2253-08	TCGA-HT-7471-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06425414-a57c-40df-905e-290fa2086153	d0b349eb-d50b-43ec-903d-e8494d8705ca	g.chr21:45876870C>T	ENST00000291592.4	+	2	660	c.343C>T	c.(343-345)Ctg>Ttg	p.L115L		NM_030891.3	NP_112153.1	Q9BY71	LRRC3_HUMAN	leucine rich repeat containing 3	115						integral to membrane	protein binding			endometrium(2)|kidney(1)|lung(1)|urinary_tract(1)	5		Breast(209;0.00908)		COAD - Colon adenocarcinoma(84;0.148)|Lung(125;0.195)		GGCCGGGGGCCTGCGGCTGCT	0.672													4	49					0	0	1	0	0	T	45876870	C	T	45876870	2	4	232	1	0	0	0	0	0	0	0	1	9029	680	24	2		2	LRRC3	21	45876870	Silent	SNP	C	TCGA-HT-7471-01A-11D-2253-08	10952752	45876870	2253025	29	26520											
MXRA5	25878	broad.mit.edu	37	X	3238337	3238337	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7471-01A-11D-2253-08	TCGA-HT-7471-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06425414-a57c-40df-905e-290fa2086153	d0b349eb-d50b-43ec-903d-e8494d8705ca	g.chrX:3238337C>T	ENST00000217939.6	-	5	5543	c.5389G>A	c.(5389-5391)Gga>Aga	p.G1797R		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	1797						extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GAGGGTGATCCCGTGGTCTGC	0.493													20	23					0	0	1	0	0	T	3238337	C	T	3238337	3	4	232	1	0	0	0	0	1	0	0	0	10051	632	22	2	3109	2	MXRA5	23	3238337	Missense_Mutation	SNP	C	TCGA-HT-7471-01A-11D-2253-08		3238337	152032223	30	26521											
FAM47C	442444	broad.mit.edu	37	X	37028425	37028425	+	Missense_Mutation	SNP	A	A	G	rs145580328	byFrequency	TCGA-HT-7471-01A-11D-2253-08	TCGA-HT-7471-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06425414-a57c-40df-905e-290fa2086153	d0b349eb-d50b-43ec-903d-e8494d8705ca	g.chrX:37028425A>G	ENST00000358047.3	+	1	1994	c.1942A>G	c.(1942-1944)Aat>Gat	p.N648D		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	648								p.N648D(7)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						GGAGCCTCCCAATACTGGAGT	0.642													3	142					0	0	1	0	0	G	37028425	A	G	37028425	3	3	232	1	0	0	0	0	1	0	0	0	5607	130	5	3	1944	3	FAM47C	23	37028425	Missense_Mutation	SNP	A	TCGA-HT-7471-01A-11D-2253-08	33790088	37028425	118242135	31	26522											
CD99L2	83692	broad.mit.edu	37	X	149984524	149984526	+	In_Frame_Del	DEL	GTG	GTG	-			TCGA-HT-7471-01A-11D-2253-08	TCGA-HT-7471-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06425414-a57c-40df-905e-290fa2086153	d0b349eb-d50b-43ec-903d-e8494d8705ca	g.chrX:149984524_149984526delGTG	ENST00000370377.3	-	3	273_275	c.156_158delCAC	c.(154-159)accaca>aca	p.52_53TT>T	CD99L2_ENST00000437787.2_In_Frame_Del_p.52_53TT>T|CD99L2_ENST00000466436.1_Intron|CD99L2_ENST00000355149.3_Intron|CD99L2_ENST00000346693.4_5'UTR	NM_001242614.1|NM_031462.3	NP_001229543.1|NP_113650.2	Q8TCZ2	C99L2_HUMAN	CD99 molecule-like 2	52	Poly-Thr.				cell adhesion	cell junction|integral to membrane				endometrium(4)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					CCTATTGGTTGTGGTGGTGGTGG	0.552													7	428	---	---	---	---						-	149984526	GTG	-	149984524	7	5	232	1	0	1	0	1	0	0	0	0	3073	1377	48	0	666	0	CD99L2	23	149984524	In_Frame_Del	DEL	GTG	TCGA-HT-7471-01A-11D-2253-08	112956099	149984524	5286036	32	26523											
ADAMTSL4	54507	broad.mit.edu	37	1	150531779	150531779	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7472-01A-11D-2024-08	TCGA-HT-7472-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	829d4bf0-c9c6-4cec-a549-6c8731d3e5c0	e9d41667-1202-4755-a988-b26f4a334717	g.chr1:150531779G>A	ENST00000271643.4	+	17	3016	c.2780G>A	c.(2779-2781)gGc>gAc	p.G927D	ADAMTSL4_ENST00000369039.5_Missense_Mutation_p.G950D|ADAMTSL4_ENST00000369038.2_Missense_Mutation_p.G927D	NM_019032.4	NP_061905.2	Q6UY14	ATL4_HUMAN	ADAMTS-like 4	927	TSP type-1 5.				apoptosis|positive regulation of apoptosis		metalloendopeptidase activity|protease binding			breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			TCCGAATGTGGCTCTGGCACA	0.592											OREG0013787	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	57					0	0	1	0	0	A	150531779	G	A	150531779	3	1	233	1	0	0	0	0	1	0	0	0	276	1203	42	2	2913	2	ADAMTSL4	1	150531779	Missense_Mutation	SNP	G	TCGA-HT-7472-01A-11D-2024-08		150531779	98718842	1	26524											
RPTN	126638	broad.mit.edu	37	1	152128277	152128280	+	Frame_Shift_Del	DEL	TGTC	TGTC	-			TCGA-HT-7472-01A-11D-2024-08	TCGA-HT-7472-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	829d4bf0-c9c6-4cec-a549-6c8731d3e5c0	e9d41667-1202-4755-a988-b26f4a334717	g.chr1:152128277_152128280delTGTC	ENST00000316073.3	-	3	1359_1362	c.1295_1298delGACA	c.(1294-1299)agacaafs	p.RQ432fs		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	432	Gln-rich.					proteinaceous extracellular matrix	calcium ion binding	p.R432K(1)		breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						ACTCTGGCCTTGTCTGTCTGTCTG	0.525													7	1154	---	---	---	---						-	152128280	TGTC	-	152128277	7	5	233	1	0	1	0	1	0	0	0	0	13716	1812	63	0	1060	0	RPTN	1	152128277	Frame_Shift_Del	DEL	TGTC	TCGA-HT-7472-01A-11D-2024-08	1596498	152128277	97122344	2	26525											
RPS6KC1	26750	broad.mit.edu	37	1	213414640	213414640	+	Silent	SNP	T	T	C			TCGA-HT-7472-01A-11D-2024-08	TCGA-HT-7472-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	829d4bf0-c9c6-4cec-a549-6c8731d3e5c0	e9d41667-1202-4755-a988-b26f4a334717	g.chr1:213414640T>C	ENST00000366960.3	+	11	1971	c.1821T>C	c.(1819-1821)gaT>gaC	p.D607D	RPS6KC1_ENST00000543470.1_Silent_p.D395D|RPS6KC1_ENST00000366959.3_Silent_p.D595D|RPS6KC1_ENST00000543354.1_Silent_p.D310D|RPS6KC1_ENST00000490299.1_3'UTR	NM_012424.3	NP_036556.2	Q96S38	KS6C1_HUMAN	ribosomal protein S6 kinase, 52kDa, polypeptide 1	607					cell communication|signal transduction	early endosome|membrane	ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity			breast(1)|endometrium(6)|kidney(4)|large_intestine(8)|liver(2)|lung(15)|ovary(3)|prostate(1)|urinary_tract(3)	43				OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)		ACAGTAAGGATAGCGCAAGTG	0.408													19	54					0	0	1	0	0	C	213414640	T	C	213414640	2	2	233	1	0	0	0	0	0	0	0	1	13710	1403	49	3		3	RPS6KC1	1	213414640	Silent	SNP	T	TCGA-HT-7472-01A-11D-2024-08	61286363	213414640	35835981	3	26526											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-HT-7472-01A-11D-2024-08	TCGA-HT-7472-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	829d4bf0-c9c6-4cec-a549-6c8731d3e5c0	e9d41667-1202-4755-a988-b26f4a334717	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								27	45					0	0	1	0	0	T	209113112	C	T	209113112	3	4	233	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HT-7472-01A-11D-2024-08		209113112	34086261	4	26527											
WNT7A	7476	broad.mit.edu	37	3	13860812	13860812	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7472-01A-11D-2024-08	TCGA-HT-7472-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	829d4bf0-c9c6-4cec-a549-6c8731d3e5c0	e9d41667-1202-4755-a988-b26f4a334717	g.chr3:13860812C>T	ENST00000285018.4	-	4	983	c.679G>A	c.(679-681)Gtg>Atg	p.V227M		NM_004625.3	NP_004616.2	O00755	WNT7A_HUMAN	wingless-type MMTV integration site family, member 7A	227					activation of JUN kinase activity|anterior/posterior pattern formation|canonical Wnt receptor signaling pathway|cell proliferation in forebrain|cellular response to transforming growth factor beta stimulus|central nervous system vasculogenesis|cerebellar granule cell differentiation|dorsal/ventral pattern formation|embryonic axis specification|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic leg morphogenesis|lens fiber cell development|negative regulation of neurogenesis|palate development|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of JNK cascade|positive regulation of synaptogenesis|positive regulation of transcription from RNA polymerase II promoter|regulation of axon diameter|satellite cell activation|satellite cell maintenance involved in skeletal muscle regeneration|sex differentiation|uterus development|Wnt receptor signaling pathway involved in wound healing, spreading of epidermal cells|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	cytokine activity|frizzled binding|receptor agonist activity|signal transducer activity			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	24						TCCTTGAGCACGTAGCCCAGC	0.587													13	60					0	0	1	0	0	T	13860812	C	T	13860812	3	4	233	1	0	0	0	0	1	0	0	0	17454	536	19	1	374	1	WNT7A	3	13860812	Missense_Mutation	SNP	C	TCGA-HT-7472-01A-11D-2024-08		13860812	184161618	5	26528											
OSBPL10	114884	broad.mit.edu	37	3	31725264	31725264	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7472-01A-11D-2024-08	TCGA-HT-7472-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	829d4bf0-c9c6-4cec-a549-6c8731d3e5c0	e9d41667-1202-4755-a988-b26f4a334717	g.chr3:31725264C>T	ENST00000396556.2	-	8	1710	c.1588G>A	c.(1588-1590)Gct>Act	p.A530T	OSBPL10_ENST00000438237.2_Missense_Mutation_p.A466T	NM_017784.4	NP_060254.2	Q9BXB5	OSB10_HUMAN	oxysterol binding protein-like 10	530					lipid transport		lipid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	34				STAD - Stomach adenocarcinoma(1;0.00406)		ACTTGCTCAGCCACAAACCTT	0.527													8	93					0	0	1	0	0	T	31725264	C	T	31725264	3	4	233	1	0	0	0	0	1	0	0	0	11322	739	26	2	726	2	OSBPL10	3	31725264	Missense_Mutation	SNP	C	TCGA-HT-7472-01A-11D-2024-08	17864452	31725264	166297166	6	26529											
MYH15	22989	broad.mit.edu	37	3	108216948	108216948	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7472-01A-11D-2024-08	TCGA-HT-7472-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	829d4bf0-c9c6-4cec-a549-6c8731d3e5c0	e9d41667-1202-4755-a988-b26f4a334717	g.chr3:108216948A>G	ENST00000273353.3	-	7	685	c.629T>C	c.(628-630)aTc>aCc	p.I210T		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	210	Myosin head-like.					myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						AAAATACTGGATAATATGTTT	0.403													55	96					0	0	1	0	0	G	108216948	A	G	108216948	3	3	233	1	0	0	0	0	1	0	0	0	10082	333	12	3	5355	3	MYH15	3	108216948	Missense_Mutation	SNP	A	TCGA-HT-7472-01A-11D-2024-08	76491684	108216948	89805482	7	26530											
MED28	80306	broad.mit.edu	37	4	17616285	17616285	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7472-01A-11D-2024-08	TCGA-HT-7472-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	829d4bf0-c9c6-4cec-a549-6c8731d3e5c0	e9d41667-1202-4755-a988-b26f4a334717	g.chr4:17616285C>T	ENST00000237380.7	+	1	32	c.8C>T	c.(7-9)gCt>gTt	p.A3V		NM_025205.3	NP_079481.2	Q9H204	MED28_HUMAN	mediator complex subunit 28						regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|membrane|nucleus	actin binding			lung(6)|skin(2)	8						AACATGGCGGCTCCACTAGGG	0.652													16	23					0	0	1	0	0	T	17616285	C	T	17616285	3	4	233	1	0	0	0	0	1	0	0	0	9496	797	28	2	10	2	MED28	4	17616285	Missense_Mutation	SNP	C	TCGA-HT-7472-01A-11D-2024-08		17616285	173537991	8	26531											
F13A1	2162	broad.mit.edu	37	6	6145947	6145947	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7472-01A-11D-2024-08	TCGA-HT-7472-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	829d4bf0-c9c6-4cec-a549-6c8731d3e5c0	e9d41667-1202-4755-a988-b26f4a334717	g.chr6:6145947C>T	ENST00000264870.3	-	15	2369	c.2104G>A	c.(2104-2106)Ggg>Agg	p.G702R		NM_000129.3	NP_000120.2	P00488	F13A_HUMAN	coagulation factor XIII, A1 polypeptide	702					peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	TTCCGATGCCCAGAGACCCAG	0.547													17	76					0	0	1	0	0	T	6145947	C	T	6145947	3	4	233	1	0	0	0	0	1	0	0	0	5368	594	21	2	98	2	F13A1	6	6145947	Missense_Mutation	SNP	C	TCGA-HT-7472-01A-11D-2024-08		6145947	164969120	9	26532											
MKLN1	4289	broad.mit.edu	37	7	131113796	131113799	+	Frame_Shift_Del	DEL	TGTT	TGTT	-			TCGA-HT-7472-01A-11D-2024-08	TCGA-HT-7472-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	829d4bf0-c9c6-4cec-a549-6c8731d3e5c0	e9d41667-1202-4755-a988-b26f4a334717	g.chr7:131113796_131113799delTGTT	ENST00000352689.6	+	9	892_895	c.852_855delTGTT	c.(850-855)actgttfs	p.TV284fs	MKLN1_ENST00000421797.2_Frame_Shift_Del_p.TV192fs	NM_013255.4	NP_037387.2	Q9UL63	MKLN1_HUMAN	muskelin 1, intracellular mediator containing kelch motifs	284					signal transduction	cytoplasm	protein binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	28	Melanoma(18;0.162)					TCATAGAGACTGTTTATTTGTTTG	0.402													20	49	---	---	---	---						-	131113799	TGTT	-	131113796	7	5	233	1	0	1	0	1	0	0	0	0	9651	1567	55	0	919	0	MKLN1	7	131113796	Frame_Shift_Del	DEL	TGTT	TCGA-HT-7472-01A-11D-2024-08		131113796	28024867	10	26533											
PCM1	5108	broad.mit.edu	37	8	17867095	17867096	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-HT-7472-01A-11D-2024-08	TCGA-HT-7472-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	829d4bf0-c9c6-4cec-a549-6c8731d3e5c0	e9d41667-1202-4755-a988-b26f4a334717	g.chr8:17867095_17867096delTG	ENST00000325083.8	+	31	5441_5442	c.5002_5003delTG	c.(5002-5004)tgtfs	p.C1668fs	PCM1_ENST00000327578.8_Frame_Shift_Del_p.C367fs|PCM1_ENST00000519253.1_Frame_Shift_Del_p.C1660fs|PCM1_ENST00000524226.1_Frame_Shift_Del_p.C1614fs	NM_006197.3	NP_006188	Q15154	PCM1_HUMAN	pericentriolar material 1	1668	Interaction with HAP1.				centrosome organization|cilium assembly|G2/M transition of mitotic cell cycle|interkinetic nuclear migration|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome	centriolar satellite|cytosol|nuclear membrane|pericentriolar material	identical protein binding		PCM1/JAK2(30)	breast(4)|endometrium(8)|kidney(5)|large_intestine(16)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	48				Colorectal(111;0.0789)		ACTGAAAGACTGTGGAGAAGAT	0.287			T	"RET, JAK2"	"papillary thyroid, CML, MPD"								4	9	---	---	---	---						-	17867096	TG	-	17867095	7	5	233	1	0	1	0	1	0	0	0	0	11631	1580	55	0	5116	0	PCM1	8	17867095	Frame_Shift_Del	DEL	TG	TCGA-HT-7472-01A-11D-2024-08		17867095	128496927	11	26534											
VDAC3	7419	broad.mit.edu	37	8	42257212	42257212	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7472-01A-11D-2024-08	TCGA-HT-7472-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	829d4bf0-c9c6-4cec-a549-6c8731d3e5c0	e9d41667-1202-4755-a988-b26f4a334717	g.chr8:42257212C>T	ENST00000392935.3	+	6	460	c.317C>T	c.(316-318)cCg>cTg	p.P106L	VDAC3_ENST00000022615.4_Missense_Mutation_p.P105L|VDAC3_ENST00000521158.1_Missense_Mutation_p.P106L|VDAC3_ENST00000522572.1_Missense_Mutation_p.P106L	NM_001135694.2|NM_005662.6	NP_001129166.1|NP_005653.3	Q9Y277	VDAC3_HUMAN	voltage-dependent anion channel 3	105					adenine transport	mitochondrial outer membrane|pore complex	nucleotide binding|porin activity|protein binding|voltage-gated anion channel activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	7	all_cancers(6;3.86e-23)|all_lung(13;6.47e-12)|Lung NSC(13;1.08e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	BRCA - Breast invasive adenocarcinoma(8;3.48e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00266)|Lung(22;0.00849)|LUSC - Lung squamous cell carcinoma(45;0.024)		Dihydroxyaluminium(DB01375)	ATATTTGTACCGAACACAGGG	0.338													12	24					0	0	1	0	0	T	42257212	C	T	42257212	3	4	233	1	0	0	0	0	1	0	0	0	17208	652	23	1	331	1	VDAC3	8	42257212	Missense_Mutation	SNP	C	TCGA-HT-7472-01A-11D-2024-08	24390117	42257212	104106810	12	26535											
CTHRC1	115908	broad.mit.edu	37	8	104384811	104384811	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7472-01A-11D-2024-08	TCGA-HT-7472-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	829d4bf0-c9c6-4cec-a549-6c8731d3e5c0	e9d41667-1202-4755-a988-b26f4a334717	g.chr8:104384811A>G	ENST00000520337.1	+	1	151	c.32A>G	c.(31-33)aAg>aGg	p.K11R	CTHRC1_ENST00000415886.2_Intron|CTHRC1_ENST00000330295.5_Intron	NM_001256099.1	NP_001243028.1	Q96CG8	CTHR1_HUMAN	collagen triple helix repeat containing 1	0						collagen				endometrium(1)|large_intestine(5)|lung(4)|ovary(1)|urinary_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(57;2.79e-06)|STAD - Stomach adenocarcinoma(118;0.197)			ATCACAGTCAAGCTACGGGAG	0.488													23	44					0	0	1	0	0	G	104384811	A	G	104384811	3	3	233	1	0	0	0	0	1	0	0	0	4034	87	3	3		3	CTHRC1	8	104384811	Missense_Mutation	SNP	A	TCGA-HT-7472-01A-11D-2024-08	62127599	104384811	41979211	13	26536											
GAPVD1	26130	broad.mit.edu	37	9	128124938	128124938	+	Silent	SNP	T	T	C			TCGA-HT-7472-01A-11D-2024-08	TCGA-HT-7472-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	829d4bf0-c9c6-4cec-a549-6c8731d3e5c0	e9d41667-1202-4755-a988-b26f4a334717	g.chr9:128124938T>C	ENST00000470056.1	+	25	4375	c.4215T>C	c.(4213-4215)gcT>gcC	p.A1405A	GAPVD1_ENST00000297933.6_Silent_p.A1432A|GAPVD1_ENST00000394104.2_Silent_p.A1450A|GAPVD1_ENST00000495955.1_Silent_p.A1450A|GAPVD1_ENST00000312123.9_Silent_p.A1411A|GAPVD1_ENST00000394105.2_Silent_p.A1459A|GAPVD1_ENST00000394083.2_Silent_p.A1384A|GAPVD1_ENST00000265956.4_Silent_p.A1424A			Q14C86	GAPD1_HUMAN	GTPase activating protein and VPS9 domains 1	1450	VPS9.				endocytosis|regulation of protein transport|regulation of small GTPase mediated signal transduction|signal transduction	cytosol|endosome|membrane	GTPase activating protein binding|GTPase activator activity|guanyl-nucleotide exchange factor activity			central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						GCTTTTATGCTAGCTGTCTGT	0.418													48	85					0	0	1	0	0	C	128124938	T	C	128124938	2	2	233	1	0	0	0	0	0	0	0	1	6279	1509	53	3		3	GAPVD1	9	128124938	Silent	SNP	T	TCGA-HT-7472-01A-11D-2024-08		128124938	13088493	14	26537											
ANGPTL2	23452	broad.mit.edu	37	9	129854133	129854133	+	Silent	SNP	C	C	G			TCGA-HT-7472-01A-11D-2024-08	TCGA-HT-7472-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	829d4bf0-c9c6-4cec-a549-6c8731d3e5c0	e9d41667-1202-4755-a988-b26f4a334717	g.chr9:129854133C>G	ENST00000373425.3	-	4	1715	c.1098G>C	c.(1096-1098)ctG>ctC	p.L366L	RALGPS1_ENST00000424082.2_Intron|ANGPTL2_ENST00000373417.1_Silent_p.L64L|RALGPS1_ENST00000373436.1_Intron|RALGPS1_ENST00000373434.1_Intron|RALGPS1_ENST00000394022.3_Intron|RALGPS1_ENST00000259351.5_Intron	NM_012098.2	NP_036230.1	Q9UKU9	ANGL2_HUMAN	angiopoietin-like 2	366	Fibrinogen C-terminal.				multicellular organismal development|signal transduction	extracellular space	receptor binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|urinary_tract(1)	18						CCATGGTCACCAGGAGTTTGT	0.552													92	198					0	0	1	0	0	G	129854133	C	G	129854133	2	3	233	1	0	0	0	0	0	0	0	1	610	581	21	5		5	ANGPTL2	9	129854133	Silent	SNP	C	TCGA-HT-7472-01A-11D-2024-08	1729195	129854133	11359298	15	26538											
OR52B6	340980	broad.mit.edu	37	11	5602531	5602531	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7472-01A-11D-2024-08	TCGA-HT-7472-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	829d4bf0-c9c6-4cec-a549-6c8731d3e5c0	e9d41667-1202-4755-a988-b26f4a334717	g.chr11:5602531A>G	ENST00000345043.2	+	1	425	c.425A>G	c.(424-426)tAt>tGt	p.Y142C	AC015691.13_ENST00000394793.2_RNA|HBG2_ENST00000380259.2_Intron	NM_001005162.2	NP_001005162.2	Q8NGF0	O52B6_HUMAN	olfactory receptor, family 52, subfamily B, member 6	142					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)	12		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;3.56e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TTTGACCGCTATGTGGCCATC	0.512													49	78					0	0	1	0	0	G	5602531	A	G	5602531	3	3	233	1	0	0	0	0	1	0	0	0	11161	449	16	3	427	3	OR52B6	11	5602531	Missense_Mutation	SNP	A	TCGA-HT-7472-01A-11D-2024-08		5602531	129403985	16	26539											
OR8I2	120586	broad.mit.edu	37	11	55861581	55861581	+	Silent	SNP	G	G	A			TCGA-HT-7472-01A-11D-2024-08	TCGA-HT-7472-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	829d4bf0-c9c6-4cec-a549-6c8731d3e5c0	e9d41667-1202-4755-a988-b26f4a334717	g.chr11:55861581G>A	ENST00000302124.2	+	1	829	c.798G>A	c.(796-798)tcG>tcA	p.S266S		NM_001003750.1	NP_001003750.1	Q8N0Y5	OR8I2_HUMAN	olfactory receptor, family 8, subfamily I, member 2	266					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53	Esophageal squamous(21;0.00693)					ACACATCATCGCTGACCCAGG	0.468													7	89					0	0	1	0	0	A	55861581	G	A	55861581	2	1	233	1	0	0	0	0	0	0	0	1	11287	1074	38	1		1	OR8I2	11	55861581	Silent	SNP	G	TCGA-HT-7472-01A-11D-2024-08	50259050	55861581	79144935	17	26540											
MYLK3	91807	broad.mit.edu	37	16	46766546	46766546	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7472-01A-11D-2024-08	TCGA-HT-7472-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	829d4bf0-c9c6-4cec-a549-6c8731d3e5c0	e9d41667-1202-4755-a988-b26f4a334717	g.chr16:46766546C>T	ENST00000394809.4	-	4	1151	c.1036G>A	c.(1036-1038)Ggg>Agg	p.G346R	MYLK3_ENST00000536476.1_Missense_Mutation_p.G5R	NM_182493.2	NP_872299.2	Q32MK0	MYLK3_HUMAN	myosin light chain kinase 3	346					cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis	cytosol	ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3)	37		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				AGCATCTCCCCAGGAGTATCC	0.607													8	12					0	0	1	0	0	T	46766546	C	T	46766546	3	4	233	1	0	0	0	0	1	0	0	0	10106	594	21	2	1463	2	MYLK3	16	46766546	Missense_Mutation	SNP	C	TCGA-HT-7472-01A-11D-2024-08		46766546	43588207	18	26541											
PLCG2	5336	broad.mit.edu	37	16	81927341	81927341	+	Silent	SNP	C	C	T			TCGA-HT-7472-01A-11D-2024-08	TCGA-HT-7472-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	829d4bf0-c9c6-4cec-a549-6c8731d3e5c0	e9d41667-1202-4755-a988-b26f4a334717	g.chr16:81927341C>T	ENST00000359376.3	+	12	1228	c.1014C>T	c.(1012-1014)agC>agT	p.S338S		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	338	PI-PLC X-box.				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						AGCTGCGGAGCGAGTCGTCCC	0.617													4	54					0	0	1	0	0	T	81927341	C	T	81927341	2	4	233	1	0	0	0	0	0	0	0	1	12084	767	27	1		1	PLCG2	16	81927341	Silent	SNP	C	TCGA-HT-7472-01A-11D-2024-08	35160795	81927341	8427412	19	26542											
TP53	7157	broad.mit.edu	37	17	7577142	7577142	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7472-01A-11D-2024-08	TCGA-HT-7472-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	829d4bf0-c9c6-4cec-a549-6c8731d3e5c0	e9d41667-1202-4755-a988-b26f4a334717	g.chr17:7577142C>T	ENST00000420246.2	-	8	928	c.796G>A	c.(796-798)Gga>Aga	p.G266R	TP53_ENST00000455263.2_Missense_Mutation_p.G266R|TP53_ENST00000269305.4_Missense_Mutation_p.G266R|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.G266R|TP53_ENST00000445888.2_Missense_Mutation_p.G266R	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	266	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		G -> A (in sporadic cancers; somatic mutation).|G -> E (in sporadic cancers; somatic mutation).|G -> R (in sporadic cancers; somatic mutation).|G -> V (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.G266R(46)|p.G266*(14)|p.0?(8)|p.?(3)|p.G262_F270delGNLLGRNSF(2)|p.G262_S269delGNLLGRNS(2)|p.G266fs*79(2)|p.N263fs*5(1)|p.G266T(1)|p.L265_K305del41(1)|p.G266_E271delGRNSFE(1)|p.E258fs*71(1)|p.G266fs*9(1)|p.L265_R267delLGR(1)|p.G266_N268delGRN(1)|p.G262fs*2(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)		CTGTTCCGTCCCAGTAGATTA	0.517		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)			17	4					0	0	1	0	0	T	7577142	C	T	7577142	3	4	233	1	0	0	0	0	1	0	0	0	16442	632	22	2	490	2	TP53	17	7577142	Missense_Mutation	SNP	C	TCGA-HT-7472-01A-11D-2024-08		7577142	73618068	20	26543											
EIF4A3	9775	broad.mit.edu	37	17	78117984	78117984	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-7472-01A-11D-2024-08	TCGA-HT-7472-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	829d4bf0-c9c6-4cec-a549-6c8731d3e5c0	e9d41667-1202-4755-a988-b26f4a334717	g.chr17:78117984C>G	ENST00000269349.3	-	2	450	c.229G>C	c.(229-231)Gat>Cat	p.D77H		NM_014740.3	NP_055555.1	P38919	IF4A3_HUMAN	eukaryotic translation initiation factor 4A3	77	Helicase ATP-binding.				mRNA transport|negative regulation of translation|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation|rRNA processing	catalytic step 2 spliceosome|cytoplasm|exon-exon junction complex|nuclear speck	ATP binding|ATP-dependent RNA helicase activity|poly(A) RNA binding|protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	10	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)			GCGATGACATCTCTCCCTTTG	0.473													5	63					0	0	1	0	0	G	78117984	C	G	78117984	3	3	233	1	0	0	0	0	1	0	0	0	5054	913	32	4	1050	4	EIF4A3	17	78117984	Missense_Mutation	SNP	C	TCGA-HT-7472-01A-11D-2024-08	70540842	78117984	3077226	21	26544											
NUMBL	9253	broad.mit.edu	37	19	41173875	41173877	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-HT-7472-01A-11D-2024-08	TCGA-HT-7472-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	829d4bf0-c9c6-4cec-a549-6c8731d3e5c0	e9d41667-1202-4755-a988-b26f4a334717	g.chr19:41173875_41173877delTGC	ENST00000252891.4	-	10	1493_1495	c.1326_1328delGCA	c.(1324-1329)cagcaa>caa	p.442_443QQ>Q	NUMBL_ENST00000540131.1_In_Frame_Del_p.401_402QQ>Q|NUMBL_ENST00000598779.1_In_Frame_Del_p.401_402QQ>Q	NM_004756.3	NP_004747.1	Q9Y6R0	NUMBL_HUMAN	numb homolog (Drosophila)-like	442	Poly-Gln.				cytokine-mediated signaling pathway|lateral ventricle development|neuroblast division in subventricular zone|protein metabolic process	cytoplasm	protein binding			NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)	16			Lung(22;0.000393)|LUSC - Lung squamous cell carcinoma(20;0.00105)			ttgctgctgttgctgctgctgct	0.66													3	6	---	---	---	---						-	41173877	TGC	-	41173875	7	5	233	1	0	1	0	1	0	0	0	0	10800	1812	63	0	505	0	NUMBL	19	41173875	In_Frame_Del	DEL	TGC	TCGA-HT-7472-01A-11D-2024-08		41173875	17955108	22	26545											
NCOA3	8202	broad.mit.edu	37	20	46267764	46267764	+	Nonsense_Mutation	SNP	C	C	G			TCGA-HT-7472-01A-11D-2024-08	TCGA-HT-7472-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	829d4bf0-c9c6-4cec-a549-6c8731d3e5c0	e9d41667-1202-4755-a988-b26f4a334717	g.chr20:46267764C>G	ENST00000372004.3	+	14	2741	c.2525C>G	c.(2524-2526)tCa>tGa	p.S842*	NCOA3_ENST00000341724.6_Intron|NCOA3_ENST00000371998.3_Nonsense_Mutation_p.S842*|NCOA3_ENST00000371997.3_Nonsense_Mutation_p.S852*	NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2	NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1	Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	842					androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding			breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						TTGAAAAGTTCACAGTCTGTG	0.388													40	59					0	0	1	0	0	G	46267764	C	G	46267764	4	3	233	1	0	0	0	0	0	1	0	0	10277	838	29	5	2601	5	NCOA3	20	46267764	Nonsense_Mutation	SNP	C	TCGA-HT-7472-01A-11D-2024-08		46267764	16757756	23	26546											
POLR3H	171568	broad.mit.edu	37	22	41936719	41936719	+	Silent	SNP	G	G	A			TCGA-HT-7472-01A-11D-2024-08	TCGA-HT-7472-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	829d4bf0-c9c6-4cec-a549-6c8731d3e5c0	e9d41667-1202-4755-a988-b26f4a334717	g.chr22:41936719G>A	ENST00000355209.4	-	2	535	c.192C>T	c.(190-192)ggC>ggT	p.G64G	POLR3H_ENST00000396504.2_Silent_p.G64G|POLR3H_ENST00000337566.5_Silent_p.G64G|POLR3H_ENST00000420561.1_Intron|POLR3H_ENST00000407461.1_Silent_p.G64G	NM_001018050.2	NP_001018060.1	Q9Y535	RPC8_HUMAN	polymerase (RNA) III (DNA directed) polypeptide H (22.9kD)	64					innate immune response|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity	p.G64G(2)		breast(1)|lung(5)|skin(1)|urinary_tract(1)	8						TGTGTGATGCGCCATCCCCAG	0.502													29	60					0	0	1	0	0	A	41936719	G	A	41936719	2	1	233	1	0	0	0	0	0	0	0	1	12284	1074	38	1		1	POLR3H	22	41936719	Silent	SNP	G	TCGA-HT-7472-01A-11D-2024-08		41936719	9367847	24	26547											
BCOR	54880	broad.mit.edu	37	X	39934221	39934221	+	Silent	SNP	C	C	G			TCGA-HT-7472-01A-11D-2024-08	TCGA-HT-7472-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	829d4bf0-c9c6-4cec-a549-6c8731d3e5c0	e9d41667-1202-4755-a988-b26f4a334717	g.chrX:39934221C>G	ENST00000342274.4	-	4	740	c.378G>C	c.(376-378)ccG>ccC	p.P126P	BCOR_ENST00000378444.4_Silent_p.P126P|BCOR_ENST00000397354.3_Silent_p.P126P|BCOR_ENST00000378455.4_Silent_p.P126P	NM_001123383.1	NP_001116855.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	126					heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						CGGGTGTATTCGGTTTGAACT	0.507			"F, N, S, T"	RARA	"retinoblastoma, AML, APL(translocation)"		oculo-facio-cardio-dental genetic						15	11					0	0	1	0	0	G	39934221	C	G	39934221	2	3	233	1	0	0	0	0	0	0	0	1	1384	871	31	5		5	BCOR	23	39934221	Silent	SNP	C	TCGA-HT-7472-01A-11D-2024-08		39934221	115336339	25	26548											
ATRX	546	broad.mit.edu	37	X	76937477	76937480	+	Frame_Shift_Del	DEL	TCTC	TCTC	-			TCGA-HT-7472-01A-11D-2024-08	TCGA-HT-7472-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	829d4bf0-c9c6-4cec-a549-6c8731d3e5c0	e9d41667-1202-4755-a988-b26f4a334717	g.chrX:76937477_76937480delTCTC	ENST00000373344.5	-	9	3482_3485	c.3268_3271delGAGA	c.(3268-3273)gagaagfs	p.EK1090fs	ATRX_ENST00000395603.3_Frame_Shift_Del_p.EK1052fs|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1090					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)	CACCTTTTCTTCTCTCTACCATAT	0.377			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						114	74	---	---	---	---						-	76937480	TCTC	-	76937477	7	5	233	1	0	1	0	1	0	0	0	0	1206	1792	62	0	4315	0	ATRX	23	76937477	Frame_Shift_Del	DEL	TCTC	TCGA-HT-7472-01A-11D-2024-08	37003256	76937477	78333083	26	26549											
RYR2	6262	broad.mit.edu	37	1	237753198	237753198	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-7473-01A-11D-2024-08	TCGA-HT-7473-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b6fde57-4d81-469c-a142-234ce43eee12	bdddf6da-3421-4597-9dec-c5e1ec3994e8	g.chr1:237753198G>T	ENST00000366574.2	+	30	4021	c.3704G>T	c.(3703-3705)gGc>gTc	p.G1235V	RYR2_ENST00000542537.1_Missense_Mutation_p.G1219V|RYR2_ENST00000360064.6_Missense_Mutation_p.G1233V	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1235	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TTACAAGAGGGCTATGAACCA	0.433													4	32					0.184627	0.200918	1	1	0	T	237753198	G	T	237753198	3	4	234	1	0	0	0	0	1	0	0	0	13821	1203	42	5	3822	5	RYR2	1	237753198	Missense_Mutation	SNP	G	TCGA-HT-7473-01A-11D-2024-08		237753198	11497423	1	26550											
SLC38A11	151258	broad.mit.edu	37	2	165755112	165755112	+	Silent	SNP	C	C	A			TCGA-HT-7473-01A-11D-2024-08	TCGA-HT-7473-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b6fde57-4d81-469c-a142-234ce43eee12	bdddf6da-3421-4597-9dec-c5e1ec3994e8	g.chr2:165755112C>A	ENST00000303735.4	-	10	1320	c.990G>T	c.(988-990)gtG>gtT	p.V330V	SLC38A11_ENST00000409058.1_Silent_p.V383V|SLC38A11_ENST00000409662.1_Silent_p.V352V|SLC38A11_ENST00000409149.3_Silent_p.V352V	NM_173512.2	NP_775783.1	Q08AI6	S38AB_HUMAN	solute carrier family 38, member 11	352					amino acid transport|sodium ion transport	integral to membrane				endometrium(2)|large_intestine(4)|lung(8)|ovary(1)	15						CAAAAACCATCACCACAGCAC	0.418													3	49					1	1	1	1	0	A	165755112	C	A	165755112	2	1	234	1	0	0	0	0	0	0	0	1	14658	813	29	5		5	SLC38A11	2	165755112	Silent	SNP	C	TCGA-HT-7473-01A-11D-2024-08		165755112	77444261	2	26551											
SSB	6741	broad.mit.edu	37	2	170665016	170665016	+	Missense_Mutation	SNP	T	T	A			TCGA-HT-7473-01A-11D-2024-08	TCGA-HT-7473-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b6fde57-4d81-469c-a142-234ce43eee12	bdddf6da-3421-4597-9dec-c5e1ec3994e8	g.chr2:170665016T>A	ENST00000409333.1	+	7	826	c.579T>A	c.(577-579)aaT>aaA	p.N193K	SSB_ENST00000260956.4_Missense_Mutation_p.N193K			P05455	LA_HUMAN	Sjogren syndrome antigen B (autoantigen La)	193					histone mRNA metabolic process|tRNA modification	nucleus|ribonucleoprotein complex	mRNA binding|nucleotide binding|protein binding|tRNA binding			endometrium(3)|large_intestine(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						CCAAAAAAAATGAAGAAAGAA	0.318													8	41					0	0	1	0	0	A	170665016	T	A	170665016	3	1	234	1	0	0	0	0	1	0	0	0	15234	1461	51	4	601	4	SSB	2	170665016	Missense_Mutation	SNP	T	TCGA-HT-7473-01A-11D-2024-08	4909904	170665016	72534357	3	26552											
INO80D	54891	broad.mit.edu	37	2	206921218	206921218	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7473-01A-11D-2024-08	TCGA-HT-7473-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b6fde57-4d81-469c-a142-234ce43eee12	bdddf6da-3421-4597-9dec-c5e1ec3994e8	g.chr2:206921218G>A	ENST00000403263.1	-	4	1072	c.668C>T	c.(667-669)gCg>gTg	p.A223V		NM_017759.4	NP_060229.3	Q53TQ3	IN80D_HUMAN	INO80 complex subunit D	223					DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	26						CTGCGGTGGCGCTGGAGGTTT	0.562													7	16					0	0	1	0	0	A	206921218	G	A	206921218	3	1	234	1	0	0	0	0	1	0	0	0	7793	1087	38	1	2447	1	INO80D	2	206921218	Missense_Mutation	SNP	G	TCGA-HT-7473-01A-11D-2024-08	36256202	206921218	36278155	4	26553											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-HT-7473-01A-11D-2024-08	TCGA-HT-7473-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b6fde57-4d81-469c-a142-234ce43eee12	bdddf6da-3421-4597-9dec-c5e1ec3994e8	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	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								26	37					0	0	1	0	0	T	209113112	C	T	209113112	3	4	234	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HT-7473-01A-11D-2024-08	2191894	209113112	34086261	5	26554											
NDUFAF2	91942	broad.mit.edu	37	5	60241241	60241241	+	Missense_Mutation	SNP	G	G	C	rs77149936	by1000genomes	TCGA-HT-7473-01A-11D-2024-08	TCGA-HT-7473-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b6fde57-4d81-469c-a142-234ce43eee12	bdddf6da-3421-4597-9dec-c5e1ec3994e8	g.chr5:60241241G>C	ENST00000511107.1	+	1	208	c.159G>C	c.(157-159)tgG>tgC	p.W53C	NDUFAF2_ENST00000296597.5_Intron			Q8N183	MIMIT_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 2	0						membrane|mitochondrion	electron carrier activity|NADH dehydrogenase (ubiquinone) activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|ovary(1)	6		Lung NSC(810;3.36e-05)|Prostate(74;0.0225)|Ovarian(174;0.17)|Breast(144;0.237)				CGATTGCGTGGTCAGTGATTG	0.547													3	39					0	0	1	0	0	C	60241241	G	C	60241241	3	2	234	1	0	0	0	0	1	0	0	0	10322	1276	44	5		5	NDUFAF2	5	60241241	Missense_Mutation	SNP	G	TCGA-HT-7473-01A-11D-2024-08		60241241	120674019	6	26555											
TBX18	9096	broad.mit.edu	37	6	85448225	85448225	+	Silent	SNP	A	A	T			TCGA-HT-7473-01A-11D-2024-08	TCGA-HT-7473-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b6fde57-4d81-469c-a142-234ce43eee12	bdddf6da-3421-4597-9dec-c5e1ec3994e8	g.chr6:85448225A>T	ENST00000369663.5	-	7	1426	c.1089T>A	c.(1087-1089)atT>atA	p.I363I	TBX18_ENST00000606784.1_Silent_p.I205I	NM_001080508.1	NP_001073977.1	O95935	TBX18_HUMAN	T-box 18	363					multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3)	61		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)		BRCA - Breast invasive adenocarcinoma(108;0.0267)		CTTGCTTGGGAATTCCAGGGA	0.438													66	122					0	0	1	0	0	T	85448225	A	T	85448225	2	4	234	1	0	0	0	0	0	0	0	1	15713	242	9	5		5	TBX18	6	85448225	Silent	SNP	A	TCGA-HT-7473-01A-11D-2024-08		85448225	85666842	7	26556											
TTYH3	80727	broad.mit.edu	37	7	2696109	2696109	+	Silent	SNP	C	C	G			TCGA-HT-7473-01A-11D-2024-08	TCGA-HT-7473-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b6fde57-4d81-469c-a142-234ce43eee12	bdddf6da-3421-4597-9dec-c5e1ec3994e8	g.chr7:2696109C>G	ENST00000258796.7	+	11	1396	c.1191C>G	c.(1189-1191)gtC>gtG	p.V397V	TTYH3_ENST00000407643.1_Silent_p.V365V|TTYH3_ENST00000403167.1_Silent_p.V226V	NM_025250.2	NP_079526.1	Q9C0H2	TTYH3_HUMAN	tweety family member 3	397						chloride channel complex|plasma membrane	chloride channel activity			kidney(1)|large_intestine(3)|lung(9)|prostate(2)|upper_aerodigestive_tract(2)	17		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;2.04e-14)		TCTCCTTCGTCACAGCCCTCA	0.642													11	91					0	0	1	0	0	G	2696109	C	G	2696109	2	3	234	1	0	0	0	0	0	0	0	1	16803	813	29	5		5	TTYH3	7	2696109	Silent	SNP	C	TCGA-HT-7473-01A-11D-2024-08		2696109	156442554	8	26557											
CALCR	799	broad.mit.edu	37	7	93072938	93072938	+	Silent	SNP	C	C	G	rs149950588		TCGA-HT-7473-01A-11D-2024-08	TCGA-HT-7473-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b6fde57-4d81-469c-a142-234ce43eee12	bdddf6da-3421-4597-9dec-c5e1ec3994e8	g.chr7:93072938C>G	ENST00000359558.2	-	11	1181	c.882G>C	c.(880-882)cgG>cgC	p.R294R	CALCR_ENST00000421592.1_Silent_p.R276R|CALCR_ENST00000394441.1_Silent_p.R260R|CALCR_ENST00000426151.1_Silent_p.R260R|CALCR_ENST00000360249.4_Silent_p.R276R	NM_001164737.1	NP_001158209.1	P30988	CALCR_HUMAN	calcitonin receptor	276					activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus	integral to plasma membrane	calcitonin binding|calcitonin receptor activity|protein binding	p.R260R(1)|p.R294R(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Salmon Calcitonin(DB00017)	GATAATACCACCGCAAGCGTT	0.443													24	58					0	0	1	0	0	G	93072938	C	G	93072938	2	3	234	1	0	0	0	0	0	0	0	1	2597	494	18	5		5	CALCR	7	93072938	Silent	SNP	C	TCGA-HT-7473-01A-11D-2024-08	90376829	93072938	66065725	9	26558											
AGFG2	3268	broad.mit.edu	37	7	100137017	100137018	+	Frame_Shift_Ins	INS	-	-	G			TCGA-HT-7473-01A-11D-2024-08	TCGA-HT-7473-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b6fde57-4d81-469c-a142-234ce43eee12	bdddf6da-3421-4597-9dec-c5e1ec3994e8	g.chr7:100137017_100137018insG	ENST00000300176.4	+	1	170_171	c.48_49insG	c.(49-51)gggfs	p.G17fs	AGFG2_ENST00000262935.4_Frame_Shift_Ins_p.G17fs	NM_006076.4	NP_006067.3	O95081	AGFG2_HUMAN	ArfGAP with FG repeats 2	17					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						gcggggtcagcgggggcaaggc	0.733													2	4	---	---	---	---						G	100137018	-	G	100137017	7	5	234	1	0	1	1	0	0	0	0	0	378	767	27	0	50	0	AGFG2	7	100137017	Frame_Shift_Ins	INS	-	TCGA-HT-7473-01A-11D-2024-08	7064079	100137017	59001646	10	26559											
DMBT1	1755	broad.mit.edu	37	10	124390734	124390734	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7473-01A-11D-2024-08	TCGA-HT-7473-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b6fde57-4d81-469c-a142-234ce43eee12	bdddf6da-3421-4597-9dec-c5e1ec3994e8	g.chr10:124390734C>T	ENST00000338354.3	+	46	6002	c.5896C>T	c.(5896-5898)Cgg>Tgg	p.R1966W	DMBT1_ENST00000368956.2_Missense_Mutation_p.R1338W|DMBT1_ENST00000330163.4_Missense_Mutation_p.R1338W|DMBT1_ENST00000368909.3_Missense_Mutation_p.R1966W|DMBT1_ENST00000368955.3_Missense_Mutation_p.R1956W|DMBT1_ENST00000359586.6_Missense_Mutation_p.R686W|DMBT1_ENST00000344338.3_Missense_Mutation_p.R1956W			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	1966	SRCR 14.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				CTGGCAGTGCCGGAACCGAGG	0.542													29	31					0	0	1	0	0	T	124390734	C	T	124390734	3	4	234	1	0	0	0	0	1	0	0	0	4605	643	23	1	6078	1	DMBT1	10	124390734	Missense_Mutation	SNP	C	TCGA-HT-7473-01A-11D-2024-08		124390734	11144013	11	26560											
NLRP6	171389	broad.mit.edu	37	11	281637	281637	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7473-01A-11D-2024-08	TCGA-HT-7473-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b6fde57-4d81-469c-a142-234ce43eee12	bdddf6da-3421-4597-9dec-c5e1ec3994e8	g.chr11:281637C>T	ENST00000534750.1	+	4	2108	c.1903C>T	c.(1903-1905)Cgc>Tgc	p.R635C	NLRP6_ENST00000312165.5_Missense_Mutation_p.R635C	NM_001276700.1	NP_001263629.1	P59044	NALP6_HUMAN	NLR family, pyrin domain containing 6	635						cytoplasm	ATP binding			breast(1)|skin(1)|upper_aerodigestive_tract(2)	4		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)		CGCGTTTGTGCGCCAAGCCCT	0.647													31	81					0	0	1	0	0	T	281637	C	T	281637	3	4	234	1	0	0	0	0	1	0	0	0	10528	768	27	1	1917	1	NLRP6	11	281637	Missense_Mutation	SNP	C	TCGA-HT-7473-01A-11D-2024-08		281637	134724879	12	26561											
EXPH5	23086	broad.mit.edu	37	11	108381471	108381471	+	Missense_Mutation	SNP	C	C	A			TCGA-HT-7473-01A-11D-2024-08	TCGA-HT-7473-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b6fde57-4d81-469c-a142-234ce43eee12	bdddf6da-3421-4597-9dec-c5e1ec3994e8	g.chr11:108381471C>A	ENST00000265843.4	-	6	4873	c.4763G>T	c.(4762-4764)aGa>aTa	p.R1588I	EXPH5_ENST00000525344.1_Missense_Mutation_p.R1581I|EXPH5_ENST00000443411.1_Missense_Mutation_p.R1400I|EXPH5_ENST00000428840.1_Missense_Mutation_p.R1512I	NM_015065.2	NP_055880	Q149M6	Q149M6_HUMAN	exophilin 5	1588					intracellular protein transport		Rab GTPase binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		AACTGAAGATCTATTTTCCCC	0.423													40	96					1.15505e-17	1.42456e-17	1	1	0	A	108381471	C	A	108381471	3	1	234	1	0	0	0	0	1	0	0	0	5350	913	32	4	1210	4	EXPH5	11	108381471	Missense_Mutation	SNP	C	TCGA-HT-7473-01A-11D-2024-08	108099834	108381471	26625045	13	26562											
CRADD	8738	broad.mit.edu	37	12	94243956	94243956	+	Missense_Mutation	SNP	G	G	A	rs141179774	byFrequency	TCGA-HT-7473-01A-11D-2024-08	TCGA-HT-7473-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b6fde57-4d81-469c-a142-234ce43eee12	bdddf6da-3421-4597-9dec-c5e1ec3994e8	g.chr12:94243956G>A	ENST00000542893.2	+	3	827	c.509G>A	c.(508-510)cGc>cAc	p.R170H	CRADD_ENST00000332896.3_Missense_Mutation_p.R170H|CRADD_ENST00000548330.1_3'UTR|CRADD_ENST00000541813.1_Intron|CRADD_ENST00000548483.1_Intron			P78560	CRADD_HUMAN	CASP2 and RIPK1 domain containing adaptor with death domain	170	Death.				apoptosis|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|signal transduction	intracellular	death domain binding|protease binding|protein binding, bridging			endometrium(1)|large_intestine(5)|lung(1)|ovary(1)	8						TGGCGGCAGCGCTTCGGGAAG	0.637													22	27					0	0	1	0	0	A	94243956	G	A	94243956	3	1	234	1	0	0	0	0	1	0	0	0	3868	1087	38	1	515	1	CRADD	12	94243956	Missense_Mutation	SNP	G	TCGA-HT-7473-01A-11D-2024-08		94243956	39607939	14	26563											
LRRC43	254050	broad.mit.edu	37	12	122685392	122685392	+	Missense_Mutation	SNP	C	C	A			TCGA-HT-7473-01A-11D-2024-08	TCGA-HT-7473-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b6fde57-4d81-469c-a142-234ce43eee12	bdddf6da-3421-4597-9dec-c5e1ec3994e8	g.chr12:122685392C>A	ENST00000339777.4	+	10	1748	c.1720C>A	c.(1720-1722)Ccc>Acc	p.P574T	LRRC43_ENST00000425921.1_Missense_Mutation_p.P389T|LRRC43_ENST00000537733.1_3'UTR	NM_152759.4	NP_689972.3	Q8N309	LRC43_HUMAN	leucine rich repeat containing 43	574										NS(1)|endometrium(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(2)	19	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225)		GATCCTGGAGCCCCTGCTCGC	0.667													26	36					4.72057e-08	5.63423e-08	1	1	0	A	122685392	C	A	122685392	3	1	234	1	0	0	0	0	1	0	0	0	9046	739	26	5	1758	5	LRRC43	12	122685392	Missense_Mutation	SNP	C	TCGA-HT-7473-01A-11D-2024-08	28441436	122685392	11166503	15	26564											
VPS18	57617	broad.mit.edu	37	15	41192203	41192203	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-7473-01A-11D-2024-08	TCGA-HT-7473-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b6fde57-4d81-469c-a142-234ce43eee12	bdddf6da-3421-4597-9dec-c5e1ec3994e8	g.chr15:41192203G>T	ENST00000220509.5	+	4	1526	c.1187G>T	c.(1186-1188)cGa>cTa	p.R396L	VPS18_ENST00000558474.1_Intron	NM_020857.2	NP_065908.1	Q9P253	VPS18_HUMAN	vacuolar protein sorting 18 homolog (S. cerevisiae)	396					endosome organization|lysosome organization|protein transport	HOPS complex|late endosome membrane|lysosomal membrane	metal ion binding|protein binding			autonomic_ganglia(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	28		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)		CGGGAGGCCCGAGATGTCTGG	0.627													4	93					1	1	1	1	0	T	41192203	G	T	41192203	3	4	234	1	0	0	0	0	1	0	0	0	17254	1058	37	5	1201	5	VPS18	15	41192203	Missense_Mutation	SNP	G	TCGA-HT-7473-01A-11D-2024-08		41192203	61339189	16	26565											
ZZEF1	23140	broad.mit.edu	37	17	3999148	3999148	+	Missense_Mutation	SNP	C	C	A			TCGA-HT-7473-01A-11D-2024-08	TCGA-HT-7473-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b6fde57-4d81-469c-a142-234ce43eee12	bdddf6da-3421-4597-9dec-c5e1ec3994e8	g.chr17:3999148C>A	ENST00000381638.2	-	11	2014	c.1890G>T	c.(1888-1890)gaG>gaT	p.E630D	ZZEF1_ENST00000574474.1_5'UTR	NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	630							calcium ion binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						ATTGCCTGAGCTCCTGAAGCT	0.333													4	45					0.014758	0.0170639	1	1	0	A	3999148	C	A	3999148	3	1	234	1	0	0	0	0	1	0	0	0	18295	796	28	4	7175	4	ZZEF1	17	3999148	Missense_Mutation	SNP	C	TCGA-HT-7473-01A-11D-2024-08		3999148	77196062	17	26566											
TP53	7157	broad.mit.edu	37	17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	rs121913343		TCGA-HT-7473-01A-11D-2024-08	TCGA-HT-7473-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b6fde57-4d81-469c-a142-234ce43eee12	bdddf6da-3421-4597-9dec-c5e1ec3994e8	g.chr17:7577121G>A	ENST00000420246.2	-	8	949	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000413465.2_Intron|TP53_ENST00000269305.4_Missense_Mutation_p.R273C|TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000359597.4_Missense_Mutation_p.R273C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	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).		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.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			17	5					0	0	1	0	0	A	7577121	G	A	7577121	3	1	234	1	0	0	0	0	1	0	0	0	16442	1087	38	1	469	1	TP53	17	7577121	Missense_Mutation	SNP	G	TCGA-HT-7473-01A-11D-2024-08	3577973	7577121	73618089	18	26567											
KLHL14	57565	broad.mit.edu	37	18	30349853	30349853	+	Silent	SNP	C	C	T			TCGA-HT-7473-01A-11D-2024-08	TCGA-HT-7473-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b6fde57-4d81-469c-a142-234ce43eee12	bdddf6da-3421-4597-9dec-c5e1ec3994e8	g.chr18:30349853C>T	ENST00000359358.4	-	2	1140	c.702G>A	c.(700-702)tcG>tcA	p.S234S	KLHL14_ENST00000358095.4_Silent_p.S234S|AC012123.1_ENST00000426194.1_Silent_p.S27S	NM_020805.1	NP_065856.1	Q9P2G3	KLH14_HUMAN	kelch-like family member 14	234	BACK.					cytosol|endoplasmic reticulum membrane				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2)	31						GCGCCAGCTCCGACTCCACGG	0.652													15	22					0	0	1	0	0	T	30349853	C	T	30349853	2	4	234	1	0	0	0	0	0	0	0	1	8413	639	23	1		1	KLHL14	18	30349853	Silent	SNP	C	TCGA-HT-7473-01A-11D-2024-08		30349853	47727395	19	26568											
C19orf53	28974	broad.mit.edu	37	19	13888924	13888924	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7473-01A-11D-2024-08	TCGA-HT-7473-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b6fde57-4d81-469c-a142-234ce43eee12	bdddf6da-3421-4597-9dec-c5e1ec3994e8	g.chr19:13888924G>A	ENST00000588234.1	+	3	522	c.212G>A	c.(211-213)aGc>aAc	p.S71N	C19orf53_ENST00000593274.1_Missense_Mutation_p.S28N	NM_014047.2	NP_054766.1	Q9UNZ5	L10K_HUMAN	chromosome 19 open reading frame 53	71										breast(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	6			OV - Ovarian serous cystadenocarcinoma(19;7.7e-24)|Epithelial(5;2.53e-19)			AAAGCCAGCAGCAGCCTGCCC	0.597													4	72					0	0	1	0	0	A	13888924	G	A	13888924	3	1	234	1	0	0	0	0	1	0	0	0	1947	971	34	2	222	2	C19orf53	19	13888924	Missense_Mutation	SNP	G	TCGA-HT-7473-01A-11D-2024-08		13888924	45240059	20	26569	127	2									
C19orf53	28974	broad.mit.edu	37	19	13888925	13888925	+	Missense_Mutation	SNP	C	C	A			TCGA-HT-7473-01A-11D-2024-08	TCGA-HT-7473-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b6fde57-4d81-469c-a142-234ce43eee12	bdddf6da-3421-4597-9dec-c5e1ec3994e8	g.chr19:13888925C>A	ENST00000588234.1	+	3	523	c.213C>A	c.(211-213)agC>agA	p.S71R	C19orf53_ENST00000593274.1_Missense_Mutation_p.S28R	NM_014047.2	NP_054766.1	Q9UNZ5	L10K_HUMAN	chromosome 19 open reading frame 53	71										breast(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	6			OV - Ovarian serous cystadenocarcinoma(19;7.7e-24)|Epithelial(5;2.53e-19)			AAGCCAGCAGCAGCCTGCCCA	0.602													4	73					0.184627	0.200918	1	1	0	A	13888925	C	A	13888925	3	1	234	1	0	0	0	0	1	0	0	0	1947	709	25	5	223	5	C19orf53	19	13888925	Missense_Mutation	SNP	C	TCGA-HT-7473-01A-11D-2024-08	1	13888925	45240058	21	26570	127	2									
CYP4F3	4051	broad.mit.edu	37	19	15752394	15752394	+	Missense_Mutation	SNP	C	C	T	rs138587161		TCGA-HT-7473-01A-11D-2024-08	TCGA-HT-7473-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b6fde57-4d81-469c-a142-234ce43eee12	bdddf6da-3421-4597-9dec-c5e1ec3994e8	g.chr19:15752394C>T	ENST00000221307.8	+	2	216	c.169C>T	c.(169-171)Cgg>Tgg	p.R57W	CYP4F3_ENST00000591058.1_Missense_Mutation_p.R57W|CYP4F3_ENST00000586182.2_Missense_Mutation_p.R57W|CYP4F3_ENST00000585846.1_Missense_Mutation_p.R57W	NM_000896.2	NP_000887.2	Q08477	CP4F3_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 3						leukotriene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding			endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1)	34						ACCCCCGAAACGGAATTGGTT	0.622													6	59					0	0	1	0	0	T	15752394	C	T	15752394	3	4	234	1	0	0	0	0	1	0	0	0	4213	527	19	1	171	1	CYP4F3	19	15752394	Missense_Mutation	SNP	C	TCGA-HT-7473-01A-11D-2024-08	1863469	15752394	43376589	22	26571											
PMEPA1	56937	broad.mit.edu	37	20	56284580	56284580	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7473-01A-11D-2024-08	TCGA-HT-7473-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b6fde57-4d81-469c-a142-234ce43eee12	bdddf6da-3421-4597-9dec-c5e1ec3994e8	g.chr20:56284580A>G	ENST00000341744.3	-	1	378	c.59T>C	c.(58-60)gTc>gCc	p.V20A	PMEPA1_ENST00000347215.4_Intron|PMEPA1_ENST00000395816.3_Intron|PMEPA1_ENST00000472841.1_Intron|PMEPA1_ENST00000265626.4_Intron	NM_020182.4	NP_064567.2	Q969W9	PMEPA_HUMAN	prostate transmembrane protein, androgen induced 1	20					androgen receptor signaling pathway	integral to membrane|plasma membrane	WW domain binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)	16						CGTGCAGGAGACATTGGGCTg	0.721													2	4					0	0	1	0	0	G	56284580	A	G	56284580	3	3	234	1	0	0	0	0	1	0	0	0	12180	275	10	3	820	3	PMEPA1	20	56284580	Missense_Mutation	SNP	A	TCGA-HT-7473-01A-11D-2024-08		56284580	6740940	23	26572											
DGCR14	8220	broad.mit.edu	37	22	19130247	19130247	+	Missense_Mutation	SNP	G	G	A	rs111488352	byFrequency	TCGA-HT-7473-01A-11D-2024-08	TCGA-HT-7473-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b6fde57-4d81-469c-a142-234ce43eee12	bdddf6da-3421-4597-9dec-c5e1ec3994e8	g.chr22:19130247G>A	ENST00000252137.6	-	2	339	c.296C>T	c.(295-297)cCg>cTg	p.P99L		NM_022719.2	NP_073210.1	Q96DF8	DGC14_HUMAN	DiGeorge syndrome critical region gene 14	99					nervous system development	catalytic step 2 spliceosome				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)	16	Colorectal(54;0.0993)					ACAGGGTGGCGGGGGCTCCCG	0.582													4	88					0	0	1	0	0	A	19130247	G	A	19130247	3	1	234	1	0	0	0	0	1	0	0	0	4488	1116	39	1	1170	1	DGCR14	22	19130247	Missense_Mutation	SNP	G	TCGA-HT-7473-01A-11D-2024-08		19130247	32174319	24	26573											
ATRX	546	broad.mit.edu	37	X	76938452	76938453	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HT-7473-01A-11D-2024-08	TCGA-HT-7473-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b6fde57-4d81-469c-a142-234ce43eee12	bdddf6da-3421-4597-9dec-c5e1ec3994e8	g.chrX:76938452_76938453insT	ENST00000373344.5	-	9	2509_2510	c.2295_2296insA	c.(2293-2298)tatgatfs	p.D766fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Ins_p.D728fs	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	766					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)	GTCTTTAAATCATACAAAGTCT	0.356			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						83	38	---	---	---	---						T	76938453	-	T	76938452	7	5	234	1	0	1	1	0	0	0	0	0	1206	826	29	0	5290	0	ATRX	23	76938452	Frame_Shift_Ins	INS	-	TCGA-HT-7473-01A-11D-2024-08		76938452	78332108	25	26574											
DOCK7	85440	broad.mit.edu	37	1	62959981	62959981	+	Missense_Mutation	SNP	G	G	A	rs76581585		TCGA-HT-7474-01A-11D-2024-08	TCGA-HT-7474-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c068572-2fc4-4547-8f85-697edb9db0d0	e28a47e8-8e77-4f3f-802c-3f7709ad5da6	g.chr1:62959981G>A	ENST00000251157.5	-	40	5188	c.5155C>T	c.(5155-5157)Cgg>Tgg	p.R1719W	DOCK7_ENST00000340370.5_Missense_Mutation_p.R1697W	NM_001271999.1	NP_001258928.1	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	1728	DHR-2.				activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						AGATATTTCCGGTCCTCCAGC	0.428													3	46					0	0	0.004672	0	0	A	62959981	G	A	62959981	3	1	235	1	0	0	0	0	1	0	0	0	4719	1115	39	1	1284	1	DOCK7	1	62959981	Missense_Mutation	SNP	G	TCGA-HT-7474-01A-11D-2024-08		62959981	186290640	1	26575											
TNN	63923	broad.mit.edu	37	1	175048764	175048764	+	Silent	SNP	C	C	T			TCGA-HT-7474-01A-11D-2024-08	TCGA-HT-7474-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c068572-2fc4-4547-8f85-697edb9db0d0	e28a47e8-8e77-4f3f-802c-3f7709ad5da6	g.chr1:175048764C>T	ENST00000239462.4	+	3	818	c.705C>T	c.(703-705)ggC>ggT	p.G235G		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	235	EGF-like 3.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		GCTGTCCCGGCGACTGCAGCG	0.667													11	9					0	0	0.080935	0	0	T	175048764	C	T	175048764	2	4	235	1	0	0	0	0	0	0	0	1	16383	755	27	1		1	TNN	1	175048764	Silent	SNP	C	TCGA-HT-7474-01A-11D-2024-08	112088783	175048764	74201857	2	26576											
AFF3	3899	broad.mit.edu	37	2	100218011	100218013	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-HT-7474-01A-11D-2024-08	TCGA-HT-7474-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c068572-2fc4-4547-8f85-697edb9db0d0	e28a47e8-8e77-4f3f-802c-3f7709ad5da6	g.chr2:100218011_100218013delGCT	ENST00000409236.2	-	12	1367_1369	c.1255_1257delAGC	c.(1255-1257)agcdel	p.S419del	AFF3_ENST00000356421.2_In_Frame_Del_p.S444del|AFF3_ENST00000317233.4_In_Frame_Del_p.S419del|AFF3_ENST00000409579.1_In_Frame_Del_p.S444del			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3		Poly-Ser.				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						tgctgctgccgctgctgctgctg	0.685													3	6	---	---	---	---						-	100218013	GCT	-	100218011	7	5	235	1	0	1	0	1	0	0	0	0	357	1078	38	0	2471	0	AFF3	2	100218011	In_Frame_Del	DEL	GCT	TCGA-HT-7474-01A-11D-2024-08		100218011	142981362	3	26577											
SSB	6741	broad.mit.edu	37	2	170667377	170667377	+	Silent	SNP	C	C	T			TCGA-HT-7474-01A-11D-2024-08	TCGA-HT-7474-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c068572-2fc4-4547-8f85-697edb9db0d0	e28a47e8-8e77-4f3f-802c-3f7709ad5da6	g.chr2:170667377C>T	ENST00000409333.1	+	10	1067	c.820C>T	c.(820-822)Cta>Tta	p.L274L	SSB_ENST00000260956.4_Silent_p.L274L|METTL5_ENST00000409837.1_Intron			P05455	LA_HUMAN	Sjogren syndrome antigen B (autoantigen La)	274					histone mRNA metabolic process|tRNA modification	nucleus|ribonucleoprotein complex	mRNA binding|nucleotide binding|protein binding|tRNA binding			endometrium(3)|large_intestine(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						GGGGATAATTCTATTTAAAGA	0.353													19	43					0	0	0.062417	0	0	T	170667377	C	T	170667377	2	4	235	1	0	0	0	0	0	0	0	1	15234	912	32	2		2	SSB	2	170667377	Silent	SNP	C	TCGA-HT-7474-01A-11D-2024-08	70449366	170667377	72531996	4	26578											
TTN	7273	broad.mit.edu	37	2	179569078	179569078	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7474-01A-11D-2024-08	TCGA-HT-7474-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c068572-2fc4-4547-8f85-697edb9db0d0	e28a47e8-8e77-4f3f-802c-3f7709ad5da6	g.chr2:179569078T>C	ENST00000589042.1	-	106	30243	c.30019A>G	c.(30019-30021)Acc>Gcc	p.T10007A	TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.T8763A|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.T9690A|TTN-AS1_ENST00000592630.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	9690	Glu-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CATGTCATGGTGCAAGTCTGG	0.423													21	136					0	0	0.055883	0	0	C	179569078	T	C	179569078	3	2	235	1	0	0	0	0	1	0	0	0	16797	1696	59	3	74538	3	TTN	2	179569078	Missense_Mutation	SNP	T	TCGA-HT-7474-01A-11D-2024-08	8901701	179569078	63630295	5	26579											
TTN	7273	broad.mit.edu	37	2	179641669	179641669	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-7474-01A-11D-2024-08	TCGA-HT-7474-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c068572-2fc4-4547-8f85-697edb9db0d0	e28a47e8-8e77-4f3f-802c-3f7709ad5da6	g.chr2:179641669G>T	ENST00000589042.1	-	28	5146	c.4922C>A	c.(4921-4923)aCa>aAa	p.T1641K	TTN_ENST00000359218.5_Missense_Mutation_p.T1595K|TTN_ENST00000460472.2_Missense_Mutation_p.T1595K|RP11-88L24.4_ENST00000582038.2_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.T1641K|TTN_ENST00000360870.5_Missense_Mutation_p.T1641K|TTN_ENST00000342175.6_Missense_Mutation_p.T1595K|TTN_ENST00000591111.1_Missense_Mutation_p.T1641K	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	1375	Ig-like 7.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTGCATCTTGTAGTGTCTCT	0.463													8	56					0.000157383	0.000170144	0.038147	1	0	T	179641669	G	T	179641669	3	4	235	1	0	0	0	0	1	0	0	0	16797	1377	48	5	106406	5	TTN	2	179641669	Missense_Mutation	SNP	G	TCGA-HT-7474-01A-11D-2024-08	72591	179641669	63557704	6	26580											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-HT-7474-01A-11D-2024-08	TCGA-HT-7474-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c068572-2fc4-4547-8f85-697edb9db0d0	e28a47e8-8e77-4f3f-802c-3f7709ad5da6	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	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								22	39					0	0	0.069288	0	0	T	209113112	C	T	209113112	3	4	235	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HT-7474-01A-11D-2024-08	29471443	209113112	34086261	7	26581											
MTERFD2	130916	broad.mit.edu	37	2	242039161	242039161	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7474-01A-11D-2024-08	TCGA-HT-7474-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c068572-2fc4-4547-8f85-697edb9db0d0	e28a47e8-8e77-4f3f-802c-3f7709ad5da6	g.chr2:242039161C>T	ENST00000391980.2	-	2	228	c.170G>A	c.(169-171)tGt>tAt	p.C57Y	MTERFD2_ENST00000407095.3_Missense_Mutation_p.C57Y|MTERFD2_ENST00000464344.2_Intron|MTERFD2_ENST00000495694.1_Missense_Mutation_p.C57Y|MTERFD2_ENST00000406593.1_Intron	NM_182501.3	NP_872307.2	Q7Z6M4	MTER2_HUMAN	MTERF domain containing 2	57										endometrium(3)|large_intestine(6)|lung(5)|ovary(1)|skin(2)|urinary_tract(3)	20		all_cancers(19;4.67e-31)|all_epithelial(40;8.67e-13)|Breast(86;0.000141)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;2.47e-32)|all cancers(36;1.79e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.59e-14)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;2.81e-06)|Lung(119;0.000509)|LUSC - Lung squamous cell carcinoma(224;0.00442)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0886)		GGATCTAACACAAGATAACTC	0.498													12	82					0	0	0.020292	0	0	T	242039161	C	T	242039161	3	4	235	1	0	0	0	0	1	0	0	0	9968	478	17	2	987	2	MTERFD2	2	242039161	Missense_Mutation	SNP	C	TCGA-HT-7474-01A-11D-2024-08	32926049	242039161	1160212	8	26582											
GABRB1	2560	broad.mit.edu	37	4	47427857	47427857	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7474-01A-11D-2024-08	TCGA-HT-7474-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c068572-2fc4-4547-8f85-697edb9db0d0	e28a47e8-8e77-4f3f-802c-3f7709ad5da6	g.chr4:47427857G>A	ENST00000295454.3	+	9	1539	c.1247G>A	c.(1246-1248)cGc>cAc	p.R416H	GABRB1_ENST00000538619.1_Missense_Mutation_p.R346H	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 1	416					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44					Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	GCCTACGGGCGCGCCCTGGAC	0.642													16	48					0	0	0.0333	0	0	A	47427857	G	A	47427857	3	1	235	1	0	0	0	0	1	0	0	0	6201	1087	38	1	1281	1	GABRB1	4	47427857	Missense_Mutation	SNP	G	TCGA-HT-7474-01A-11D-2024-08		47427857	143726419	9	26583											
GK2	2712	broad.mit.edu	37	4	80327819	80327819	+	Silent	SNP	A	A	G			TCGA-HT-7474-01A-11D-2024-08	TCGA-HT-7474-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c068572-2fc4-4547-8f85-697edb9db0d0	e28a47e8-8e77-4f3f-802c-3f7709ad5da6	g.chr4:80327819A>G	ENST00000358842.3	-	1	1553	c.1536T>C	c.(1534-1536)ggT>ggC	p.G512G		NM_033214.2	NP_149991.2	Q14410	GLPK2_HUMAN	glycerol kinase 2	512					glycerol-3-phosphate metabolic process	mitochondrial outer membrane	ATP binding|glycerol kinase activity			autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	39						TGGTAACCCAACCCATTGACT	0.438													27	77					0	0	0.030593	0	0	G	80327819	A	G	80327819	2	3	235	1	0	0	0	0	0	0	0	1	6463	30	2	3		3	GK2	4	80327819	Silent	SNP	A	TCGA-HT-7474-01A-11D-2024-08	32899962	80327819	110826457	10	26584											
ACSL6	23305	broad.mit.edu	37	5	131329917	131329917	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7474-01A-11D-2024-08	TCGA-HT-7474-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c068572-2fc4-4547-8f85-697edb9db0d0	e28a47e8-8e77-4f3f-802c-3f7709ad5da6	g.chr5:131329917A>G	ENST00000379264.2	-	2	185	c.77T>C	c.(76-78)aTg>aCg	p.M26T	ACSL6_ENST00000543479.1_Start_Codon_SNP_p.M1T|ACSL6_ENST00000379272.2_Start_Codon_SNP_p.M1T|ACSL6_ENST00000379249.3_Start_Codon_SNP_p.M1T|ACSL6_ENST00000296869.4_Missense_Mutation_p.M26T|ACSL6_ENST00000544770.1_5'UTR|ACSL6_ENST00000379244.1_Start_Codon_SNP_p.M1T|ACSL6_ENST00000379240.1_Start_Codon_SNP_p.M1T|ACSL6_ENST00000477640.1_5'UTR|ACSL6_ENST00000431707.1_Start_Codon_SNP_p.M1T|ACSL6_ENST00000379255.1_Start_Codon_SNP_p.M1T|ACSL6_ENST00000357096.1_Start_Codon_SNP_p.M1T|ACSL6_ENST00000379246.1_Missense_Mutation_p.M12T	NM_001009185.2	NP_001009185.1	Q9UKU0	ACSL6_HUMAN	acyl-CoA synthetase long-chain family member 6	1					fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane|plasma membrane	ATP binding|long-chain fatty acid-CoA ligase activity			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	35		all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CTGTGTCTGCATCTTCTCCAG	0.547													8	12					0	0	0.058154	0	0	G	131329917	A	G	131329917	3	3	235	1	0	0	0	0	1	0	0	0	181	217	8	3	2253	3	ACSL6	5	131329917	Missense_Mutation	SNP	A	TCGA-HT-7474-01A-11D-2024-08		131329917	49585343	11	26585											
OR2J3	442186	broad.mit.edu	37	6	29080500	29080500	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7474-01A-11D-2024-08	TCGA-HT-7474-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c068572-2fc4-4547-8f85-697edb9db0d0	e28a47e8-8e77-4f3f-802c-3f7709ad5da6	g.chr6:29080500C>T	ENST00000377169.1	+	1	833	c.833C>T	c.(832-834)gCc>gTc	p.A278V		NM_001005216.2	NP_001005216.2	O76001	OR2J3_HUMAN	olfactory receptor, family 2, subfamily J, member 3	278					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24						AAGTTCATTGCCCTCTTTTAT	0.448													4	55					0	0	0.009096	0	0	T	29080500	C	T	29080500	3	4	235	1	0	0	0	0	1	0	0	0	11052	739	26	2	835	2	OR2J3	6	29080500	Missense_Mutation	SNP	C	TCGA-HT-7474-01A-11D-2024-08		29080500	142034567	12	26586											
NOTCH4	4855	broad.mit.edu	37	6	32188188	32188188	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7474-01A-11D-2024-08	TCGA-HT-7474-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c068572-2fc4-4547-8f85-697edb9db0d0	e28a47e8-8e77-4f3f-802c-3f7709ad5da6	g.chr6:32188188G>A	ENST00000375023.3	-	6	1291	c.1153C>T	c.(1153-1155)Cgc>Tgc	p.R385C		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	385	EGF-like 9; calcium-binding (Potential).				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						ATACCTGTGCGTCCAGGTGGG	0.592													7	131					0	0	0.02938	0	0	A	32188188	G	A	32188188	3	1	235	1	0	0	0	0	1	0	0	0	10598	1145	40	1	4958	1	NOTCH4	6	32188188	Missense_Mutation	SNP	G	TCGA-HT-7474-01A-11D-2024-08	3107688	32188188	138926879	13	26587											
ZPBP	11055	broad.mit.edu	37	7	49977166	49977166	+	Silent	SNP	T	T	C	rs138428432		TCGA-HT-7474-01A-11D-2024-08	TCGA-HT-7474-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c068572-2fc4-4547-8f85-697edb9db0d0	e28a47e8-8e77-4f3f-802c-3f7709ad5da6	g.chr7:49977166T>C	ENST00000046087.2	-	8	1083	c.1014A>G	c.(1012-1014)caA>caG	p.Q338Q	ZPBP_ENST00000419417.1_Silent_p.Q337Q|ZPBP_ENST00000491129.1_Intron	NM_001159878.1|NM_007009.2	NP_001153350.1|NP_008940.2	Q9BS86	ZPBP1_HUMAN	zona pellucida binding protein	338					binding of sperm to zona pellucida	extracellular region				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(3)	29	Glioma(55;0.08)|all_neural(89;0.245)					TGCTATTGCATTGAAGGCAAT	0.343													36	74					0	0	0.092188	0	0	C	49977166	T	C	49977166	2	2	235	1	0	0	0	0	0	0	0	1	18261	1490	52	3		3	ZPBP	7	49977166	Silent	SNP	T	TCGA-HT-7474-01A-11D-2024-08		49977166	109161497	14	26588											
TAS2R16	50833	broad.mit.edu	37	7	122635637	122635637	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7474-01A-11D-2024-08	TCGA-HT-7474-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c068572-2fc4-4547-8f85-697edb9db0d0	e28a47e8-8e77-4f3f-802c-3f7709ad5da6	g.chr7:122635637A>G	ENST00000249284.2	-	1	117	c.52T>C	c.(52-54)Tcc>Ccc	p.S18P		NM_016945.2	NP_058641.1	Q9NYV7	T2R16_HUMAN	taste receptor, type 2, member 16	18					detection of chemical stimulus involved in sensory perception of bitter taste	endoplasmic reticulum|external side of plasma membrane|trans-Golgi network	bitter taste receptor activity|protein binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						ATTGTCAAGGACTCAAGCACA	0.453													15	48					0	0	0.028581	0	0	G	122635637	A	G	122635637	3	3	235	1	0	0	0	0	1	0	0	0	15626	275	10	3	827	3	TAS2R16	7	122635637	Missense_Mutation	SNP	A	TCGA-HT-7474-01A-11D-2024-08	72658471	122635637	36503026	15	26589											
PAPPA	5069	broad.mit.edu	37	9	119139910	119139910	+	Missense_Mutation	SNP	G	G	C			TCGA-HT-7474-01A-11D-2024-08	TCGA-HT-7474-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c068572-2fc4-4547-8f85-697edb9db0d0	e28a47e8-8e77-4f3f-802c-3f7709ad5da6	g.chr9:119139910G>C	ENST00000328252.3	+	20	5030	c.4661G>C	c.(4660-4662)tGt>tCt	p.C1554S	PAPPA_ENST00000534838.1_Missense_Mutation_p.C592S|PAPPA_ENST00000483254.1_3'UTR	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	1554	Sushi 5.				cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						CTGATTCACTGTGTCAAAGGC	0.473													16	28					0	0	0.024245	0	0	C	119139910	G	C	119139910	3	2	235	1	0	0	0	0	1	0	0	0	11479	1377	48	5	4739	5	PAPPA	9	119139910	Missense_Mutation	SNP	G	TCGA-HT-7474-01A-11D-2024-08		119139910	22073521	16	26590											
SOHLH1	402381	broad.mit.edu	37	9	138588581	138588581	+	Missense_Mutation	SNP	C	C	T	rs138843804		TCGA-HT-7474-01A-11D-2024-08	TCGA-HT-7474-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c068572-2fc4-4547-8f85-697edb9db0d0	e28a47e8-8e77-4f3f-802c-3f7709ad5da6	g.chr9:138588581C>T	ENST00000298466.5	-	5	598	c.538G>A	c.(538-540)Gtg>Atg	p.V180M	SOHLH1_ENST00000425225.1_Missense_Mutation_p.V180M	NM_001012415.2	NP_001012415	Q5JUK2	SOLH1_HUMAN	spermatogenesis and oogenesis specific basic helix-loop-helix 1	180					cell differentiation|multicellular organismal development|oogenesis|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(5)|prostate(1)	12		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.66e-07)|Epithelial(140;1.11e-06)|all cancers(34;6.45e-05)		ATGTGCGGCACGGGCTCTGGG	0.632													4	61					0	0	0.02938	0	0	T	138588581	C	T	138588581	3	4	235	1	0	0	0	0	1	0	0	0	14977	536	19	1	682	1	SOHLH1	9	138588581	Missense_Mutation	SNP	C	TCGA-HT-7474-01A-11D-2024-08	19448671	138588581	2624850	17	26591											
INPP5A	3632	broad.mit.edu	37	10	134521843	134521843	+	Silent	SNP	C	C	A			TCGA-HT-7474-01A-11D-2024-08	TCGA-HT-7474-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c068572-2fc4-4547-8f85-697edb9db0d0	e28a47e8-8e77-4f3f-802c-3f7709ad5da6	g.chr10:134521843C>A	ENST00000368594.3	+	7	778	c.501C>A	c.(499-501)atC>atA	p.I167I	INPP5A_ENST00000368593.3_Silent_p.I167I|INPP5A_ENST00000487614.1_3'UTR	NM_005539.3	NP_005530.3	Q14642	I5P1_HUMAN	inositol polyphosphate-5-phosphatase, 40kDa	167				PQDYFPECKWSRKGFIRTRWC -> RRLLPRVQMVKKRLHP DEVV (in Ref. 5; CAA83500).	cell communication	membrane	inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|PH domain binding			cervix(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		all_cancers(35;8.59e-13)|all_epithelial(44;5.49e-09)|Lung NSC(174;0.000854)|all_lung(145;0.00146)|all_neural(114;0.0299)|Colorectal(31;0.0599)|Breast(234;0.0849)|Melanoma(40;0.124)|all_hematologic(284;0.196)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;0.000102)|Epithelial(32;0.00023)|all cancers(32;0.000326)		AAGGCTTCATCCGGACGAGGT	0.463													6	26					0.00307968	0.00315865	0.038147	1	0	A	134521843	C	A	134521843	2	1	235	1	0	0	0	0	0	0	0	1	7798	845	30	5		5	INPP5A	10	134521843	Silent	SNP	C	TCGA-HT-7474-01A-11D-2024-08		134521843	1012904	18	26592											
SIK3	23387	broad.mit.edu	37	11	116719848	116719848	+	Silent	SNP	G	G	A			TCGA-HT-7474-01A-11D-2024-08	TCGA-HT-7474-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c068572-2fc4-4547-8f85-697edb9db0d0	e28a47e8-8e77-4f3f-802c-3f7709ad5da6	g.chr11:116719848G>A	ENST00000375300.1	-	21	3668	c.3663C>T	c.(3661-3663)agC>agT	p.S1221S	SIK3_ENST00000434315.2_Silent_p.S1002S|SIK3_ENST00000292055.4_Silent_p.S1163S|AP006216.12_ENST00000444200.1_RNA|SIK3_ENST00000375288.1_Silent_p.S498S|SIK3_ENST00000488337.1_5'UTR|SIK3_ENST00000542607.1_Silent_p.S1103S|SIK3_ENST00000446921.2_Silent_p.S1161S			Q9Y2K2	SIK3_HUMAN	SIK family kinase 3	1163						cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						AAGCATCGTCGCTGTTCTGGA	0.597													7	63					0	0	0.038147	0	0	A	116719848	G	A	116719848	2	1	235	1	0	0	0	0	0	0	0	1	14374	1078	38	1		1	SIK3	11	116719848	Silent	SNP	G	TCGA-HT-7474-01A-11D-2024-08		116719848	18286668	19	26593											
FSIP1	161835	broad.mit.edu	37	15	39910298	39910305	+	Frame_Shift_Del	DEL	CTGGAAAG	CTGGAAAG	-	rs34939408		TCGA-HT-7474-01A-11D-2024-08	TCGA-HT-7474-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c068572-2fc4-4547-8f85-697edb9db0d0	e28a47e8-8e77-4f3f-802c-3f7709ad5da6	g.chr15:39910298_39910305delCTGGAAAG	ENST00000350221.3	-	11	1539_1546	c.1330_1337delCTTTCCAG	c.(1330-1338)ctttccaggfs	p.LSR444fs		NM_152597.4	NP_689810.3	Q8NA03	FSIP1_HUMAN	fibrous sheath interacting protein 1	444										NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	23		all_cancers(109;2.66e-19)|all_epithelial(112;2.66e-16)|Lung NSC(122;1.5e-11)|all_lung(180;4.03e-10)|Melanoma(134;0.0575)|Ovarian(310;0.0827)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;8.22e-06)|BRCA - Breast invasive adenocarcinoma(123;0.142)		GATGATGGACCTGGAAAGCTGGGGGAAC	0.38													21	94	---	---	---	---						-	39910305	CTGGAAAG	-	39910298	7	5	235	1	0	1	0	1	0	0	0	0	6109	681	24	0	416	0	FSIP1	15	39910298	Frame_Shift_Del	DEL	CTGGAAAG	TCGA-HT-7474-01A-11D-2024-08		39910298	62621094	20	26594											
RPUSD1	113000	broad.mit.edu	37	16	837118	837118	+	Missense_Mutation	SNP	G	G	A	rs138346352		TCGA-HT-7474-01A-11D-2024-08	TCGA-HT-7474-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c068572-2fc4-4547-8f85-697edb9db0d0	e28a47e8-8e77-4f3f-802c-3f7709ad5da6	g.chr16:837118G>A	ENST00000561734.1	-	3	611	c.368C>T	c.(367-369)aCg>aTg	p.T123M	RPUSD1_ENST00000565809.1_Intron|RPUSD1_ENST00000007264.2_Missense_Mutation_p.T123M|RPUSD1_ENST00000567114.1_De_novo_Start_InFrame			Q9UJJ7	RUSD1_HUMAN	RNA pseudouridylate synthase domain containing 1	123					pseudouridine synthesis		pseudouridine synthase activity|RNA binding			endometrium(3)|lung(2)|skin(2)	7		Hepatocellular(780;0.00335)				CCGGCCCTCCGTGCTGTTCCT	0.692													5	13					0	0	0.021553	0	0	A	837118	G	A	837118	3	1	235	1	0	0	0	0	1	0	0	0	13718	1145	40	1	582	1	RPUSD1	16	837118	Missense_Mutation	SNP	G	TCGA-HT-7474-01A-11D-2024-08		837118	89517635	21	26595											
SMPD3	55512	broad.mit.edu	37	16	68398674	68398674	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7474-01A-11D-2024-08	TCGA-HT-7474-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c068572-2fc4-4547-8f85-697edb9db0d0	e28a47e8-8e77-4f3f-802c-3f7709ad5da6	g.chr16:68398674T>C	ENST00000219334.5	-	5	2138	c.1535A>G	c.(1534-1536)aAc>aGc	p.N512S	SMPD3_ENST00000563226.1_Missense_Mutation_p.N512S|SMPD3_ENST00000566009.1_5'UTR|SMPD3_ENST00000568373.1_Missense_Mutation_p.N512S	NM_018667.3	NP_061137.1	Q9NY59	NSMA2_HUMAN	sphingomyelin phosphodiesterase 3, neutral membrane (neutral sphingomyelinase II)	512		Important for substrate recognition (By similarity).			cell cycle|multicellular organismal development|sphingomyelin catabolic process	Golgi membrane|integral to membrane|plasma membrane	metal ion binding|sphingomyelin phosphodiesterase activity			breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0184)|Epithelial(162;0.0785)	Phosphatidylserine(DB00144)	GTTATCAAAGTTGAAATCTCC	0.572													6	48					0	0	0.02938	0	0	C	68398674	T	C	68398674	3	2	235	1	0	0	0	0	1	0	0	0	14860	1725	60	3	452	3	SMPD3	16	68398674	Missense_Mutation	SNP	T	TCGA-HT-7474-01A-11D-2024-08	67561556	68398674	21956079	22	26596											
TP53	7157	broad.mit.edu	37	17	7577138	7577138	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-7474-01A-11D-2024-08	TCGA-HT-7474-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c068572-2fc4-4547-8f85-697edb9db0d0	e28a47e8-8e77-4f3f-802c-3f7709ad5da6	g.chr17:7577138C>G	ENST00000420246.2	-	8	932	c.800G>C	c.(799-801)cGg>cCg	p.R267P	TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.R267P|TP53_ENST00000359597.4_Missense_Mutation_p.R267P|TP53_ENST00000269305.4_Missense_Mutation_p.R267P|TP53_ENST00000455263.2_Missense_Mutation_p.R267P	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	267	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> G (in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in sporadic cancers; somatic mutation; dbSNP:rs55832599).		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.R267P(17)|p.R267Q(10)|p.0?(8)|p.R267L(6)|p.N268fs*77(3)|p.?(3)|p.G262_F270delGNLLGRNSF(2)|p.G266_E271delGRNSFE(2)|p.G262_S269delGNLLGRNS(2)|p.G266fs*4(1)|p.L265_K305del41(1)|p.E258fs*71(1)|p.L265_R267delLGR(1)|p.G266_N268delGRN(1)|p.G262fs*2(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)		AAAGCTGTTCCGTCCCAGTAG	0.527		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)			22	6					0	0	0.069288	0	0	G	7577138	C	G	7577138	3	3	235	1	0	0	0	0	1	0	0	0	16442	652	23	5	486	5	TP53	17	7577138	Missense_Mutation	SNP	C	TCGA-HT-7474-01A-11D-2024-08		7577138	73618072	23	26597											
SMCR8	140775	broad.mit.edu	37	17	18220403	18220403	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7474-01A-11D-2024-08	TCGA-HT-7474-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c068572-2fc4-4547-8f85-697edb9db0d0	e28a47e8-8e77-4f3f-802c-3f7709ad5da6	g.chr17:18220403G>A	ENST00000406438.3	+	1	1780	c.1300G>A	c.(1300-1302)Gga>Aga	p.G434R		NM_144775.2	NP_658988.2	Q8TEV9	SMCR8_HUMAN	Smith-Magenis syndrome chromosome region, candidate 8	434										breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21						GCAGGAACTGGGAGATGAGGA	0.448													4	86					0	0	0.009096	0	0	A	18220403	G	A	18220403	3	1	235	1	0	0	0	0	1	0	0	0	14846	1233	43	2	1302	2	SMCR8	17	18220403	Missense_Mutation	SNP	G	TCGA-HT-7474-01A-11D-2024-08	10643265	18220403	62974807	24	26598											
NINL	22981	broad.mit.edu	37	20	25436318	25436318	+	Silent	SNP	C	C	T			TCGA-HT-7474-01A-11D-2024-08	TCGA-HT-7474-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c068572-2fc4-4547-8f85-697edb9db0d0	e28a47e8-8e77-4f3f-802c-3f7709ad5da6	g.chr20:25436318C>T	ENST00000278886.6	-	23	4021	c.3948G>A	c.(3946-3948)ctG>ctA	p.L1316L	NINL_ENST00000422516.1_Silent_p.L967L|NINL_ENST00000464285.1_5'UTR	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	1316					G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						CCTGCTCCTTCAGCTTATCCA	0.488													56	142					0	0	0.048971	0	0	T	25436318	C	T	25436318	2	4	235	1	0	0	0	0	0	0	0	1	10467	813	29	2		2	NINL	20	25436318	Silent	SNP	C	TCGA-HT-7474-01A-11D-2024-08		25436318	37589202	25	26599			1	23		2	2	85	C		7.868731e-05
NINL	22981	broad.mit.edu	37	20	25436402	25436402	+	Silent	SNP	C	C	T			TCGA-HT-7474-01A-11D-2024-08	TCGA-HT-7474-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c068572-2fc4-4547-8f85-697edb9db0d0	e28a47e8-8e77-4f3f-802c-3f7709ad5da6	g.chr20:25436402C>T	ENST00000278886.6	-	23	3937	c.3864G>A	c.(3862-3864)ctG>ctA	p.L1288L	NINL_ENST00000422516.1_Silent_p.L939L|NINL_ENST00000464285.1_5'UTR	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	1288					G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						CTGTGGCTTTCAGCTGTTTCT	0.537													62	199					0	0	0.048971	0	0	T	25436402	C	T	25436402	2	4	235	1	0	0	0	0	0	0	0	1	10467	813	29	2		2	NINL	20	25436402	Silent	SNP	C	TCGA-HT-7474-01A-11D-2024-08	84	25436402	37589118	26	26600			1	23		2	2	85	C		7.868731e-05
TLR7	51284	broad.mit.edu	37	X	12906637	12906645	+	In_Frame_Del	DEL	CGGAAAAGG	CGGAAAAGG	-			TCGA-HT-7474-01A-11D-2024-08	TCGA-HT-7474-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c068572-2fc4-4547-8f85-697edb9db0d0	e28a47e8-8e77-4f3f-802c-3f7709ad5da6	g.chrX:12906637_12906645delCGGAAAAGG	ENST00000380659.3	+	3	3149_3157	c.3010_3018delCGGAAAAGG	c.(3010-3018)cggaaaaggdel	p.RKR1004del		NM_016562.3	NP_057646.1	Q9NYK1	TLR7_HUMAN	toll-like receptor 7	1004	TIR.				cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus	early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane	double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity			NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44					Imiquimod(DB00724)	CCTCCAGCTCCGGAAAAGGCTCTGTGGGA	0.474													41	68	---	---	---	---						-	12906645	CGGAAAAGG	-	12906637	7	5	235	1	0	1	0	1	0	0	0	0	16016	643	23	0	3016	0	TLR7	23	12906637	In_Frame_Del	DEL	CGGAAAAGG	TCGA-HT-7474-01A-11D-2024-08		12906637	142363923	27	26601											
ATRX	546	broad.mit.edu	37	X	76855981	76855982	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HT-7474-01A-11D-2024-08	TCGA-HT-7474-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c068572-2fc4-4547-8f85-697edb9db0d0	e28a47e8-8e77-4f3f-802c-3f7709ad5da6	g.chrX:76855981_76855982insA	ENST00000373344.5	-	23	5832_5833	c.5618_5619insT	c.(5617-5619)ttcfs	p.F1873fs	ATRX_ENST00000395603.3_Frame_Shift_Ins_p.F1835fs|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1873					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)	GAAAATCTTGGAAAAGCTTTGC	0.361			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						88	76	---	---	---	---						A	76855982	-	A	76855981	7	5	235	1	0	1	1	0	0	0	0	0	1206	1165	41	0	1911	0	ATRX	23	76855981	Frame_Shift_Ins	INS	-	TCGA-HT-7474-01A-11D-2024-08	63949344	76855981	78414579	28	26602											
GLRA4	441509	broad.mit.edu	37	X	102962436	102962436	+	Missense_Mutation	SNP	C	C	A			TCGA-HT-7474-01A-11D-2024-08	TCGA-HT-7474-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c068572-2fc4-4547-8f85-697edb9db0d0	e28a47e8-8e77-4f3f-802c-3f7709ad5da6	g.chrX:102962436C>A	ENST00000372617.4	-	9	1510	c.1090G>T	c.(1090-1092)Gat>Tat	p.D364Y		NM_001024452.2	NP_001019623.2	Q5JXX5	GLRA4_HUMAN	glycine receptor, alpha 4	364						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity			cervix(1)|endometrium(2)|large_intestine(2)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						TGGATGATATCTTCCTCCTGG	0.463													4	40					3.59834e-05	3.99815e-05	0.021553	1	0	A	102962436	C	A	102962436	3	1	235	1	0	0	0	0	1	0	0	0	6499	913	32	4	166	4	GLRA4	23	102962436	Missense_Mutation	SNP	C	TCGA-HT-7474-01A-11D-2024-08	26106455	102962436	52308124	29	26603											
ATAD3B	83858	broad.mit.edu	37	1	1421533	1421533	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr1:1421533G>A	ENST00000308647.7	+	10	1123	c.1007G>A	c.(1006-1008)aGg>aAg	p.R336K		NM_031921.4	NP_114127.3	Q5T9A4	ATD3B_HUMAN	ATPase family, AAA domain containing 3B	336							ATP binding|nucleoside-triphosphatase activity			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)|urinary_tract(1)	10	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		ATAGCAACCAGGAACACCAAG	0.642													35	70					0	0	0.004878	0	0	A	1421533	G	A	1421533	3	1	236	1	0	0	0	0	1	0	0	0	1073	1000	35	2	1045	2	ATAD3B	1	1421533	Missense_Mutation	SNP	G	TCGA-HT-7475-01A-11D-2024-08		1421533	247829088	1	26604											
CD1B	910	broad.mit.edu	37	1	158298711	158298711	+	Splice_Site	SNP	C	C	T			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr1:158298711C>T	ENST00000368168.3	-	5	1087	c.980G>A	c.(979-981)cGg>cAg	p.R327Q		NM_001764.2	NP_001755.1	P29016	CD1B_HUMAN	CD1b molecule	327					antigen processing and presentation|immune response	endosome membrane|integral to membrane|lysosomal membrane|plasma membrane	protein binding			breast(2)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	30	all_hematologic(112;0.0378)					CACAACTCACCGGCGCCTCAT	0.388													12	47					0	0	0.001855	0	0	T	158298711	C	T	158298711	5	4	236	1	0	0	0	0	0	0	1	0	2997	666	23	1	29	1	CD1B	1	158298711	Splice_Site	SNP	C	TCGA-HT-7475-01A-11D-2024-08	156877178	158298711	90951910	2	26605											
UAP1	6675	broad.mit.edu	37	1	162557442	162557442	+	Silent	SNP	C	C	T			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr1:162557442C>T	ENST00000271469.3	+	6	1314	c.1012C>T	c.(1012-1014)Ctg>Ttg	p.L338L	UAP1_ENST00000367926.4_Silent_p.L338L|UAP1_ENST00000367925.1_Silent_p.L338L|UAP1_ENST00000367924.1_Silent_p.L338L			Q16222	UAP1_HUMAN	UDP-N-acteylglucosamine pyrophosphorylase 1	338					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol|nucleus|plasma membrane	UDP-N-acetylglucosamine diphosphorylase activity			breast(2)|cervix(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(2)|skin(2)|stomach(1)	22	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.126)			TGTACCATTTCTGAGAGATGT	0.433													60	165					0	0	0.01441	0	0	T	162557442	C	T	162557442	2	4	236	1	0	0	0	0	0	0	0	1	16886	912	32	2		2	UAP1	1	162557442	Silent	SNP	C	TCGA-HT-7475-01A-11D-2024-08	4258731	162557442	86693179	3	26606											
IL1RL1	9173	broad.mit.edu	37	2	102956649	102956649	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr2:102956649G>A	ENST00000311734.2	+	4	703	c.364G>A	c.(364-366)Gta>Ata	p.V122I	IL1RL1_ENST00000473175.1_3'UTR|IL1RL1_ENST00000233954.1_Missense_Mutation_p.V122I|IL1RL1_ENST00000393393.3_Missense_Mutation_p.V122I|IL1RL1_ENST00000409584.1_Missense_Mutation_p.V122I|IL1RL1_ENST00000404917.2_Missense_Mutation_p.V5I	NM_001282408.1	NP_001269337.1	Q01638	ILRL1_HUMAN	interleukin 1 receptor-like 1	122	Ig-like C2-type 2.				innate immune response	integral to membrane	interleukin-1 receptor activity|receptor signaling protein activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1)	16						GTATTCAACAGTATCTGGATC	0.343													13	19					0	0	0.013537	0	0	A	102956649	G	A	102956649	3	1	236	1	0	0	0	0	1	0	0	0	7707	1029	36	2	374	2	IL1RL1	2	102956649	Missense_Mutation	SNP	G	TCGA-HT-7475-01A-11D-2024-08		102956649	140242724	4	26607											
SULT1C2	6819	broad.mit.edu	37	2	108921152	108921152	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr2:108921152delA	ENST00000326853.5	+	6	984	c.531delA	c.(529-531)ggafs	p.G177fs	SULT1C2_ENST00000437390.2_Frame_Shift_Del_p.G180fs|SULT1C2_ENST00000251481.6_Frame_Shift_Del_p.G166fs|SULT1C2_ENST00000409880.1_Frame_Shift_Del_p.G129fs	NM_176825.2	NP_789795.1	O00338	ST1C2_HUMAN	sulfotransferase family, cytosolic, 1C, member 2	166					3'-phosphoadenosine 5'-phosphosulfate metabolic process|amine metabolic process|sulfation|xenobiotic metabolic process	cytosol|microtubule cytoskeleton	sulfotransferase activity			NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20						TCATCAATGGAAAAGGTACGG	0.473													37	74	---	---	---	---						-	108921152	A	-	108921152	7	5	236	1	0	1	0	1	0	0	0	0	15433	233	9	0	611	0	SULT1C2	2	108921152	Frame_Shift_Del	DEL	A	TCGA-HT-7475-01A-11D-2024-08	5964503	108921152	134278221	5	26608											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								25	53					0	0	0.004656	0	0	T	209113112	C	T	209113112	3	4	236	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HT-7475-01A-11D-2024-08	100191960	209113112	34086261	6	26609											
PTH2R	5746	broad.mit.edu	37	2	209308141	209308141	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr2:209308141G>A	ENST00000272847.2	+	6	791	c.578G>A	c.(577-579)aGc>aAc	p.S193N	PTH2R_ENST00000413482.1_3'UTR	NM_005048.2	NP_005039.1	P49190	PTH2R_HUMAN	parathyroid hormone 2 receptor	193						integral to plasma membrane	parathyroid hormone receptor activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(21)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43				Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)		AGAGCTACAAGCATCTTTGTC	0.403													26	40					0	0	0.003954	0	0	A	209308141	G	A	209308141	3	1	236	1	0	0	0	0	1	0	0	0	12810	971	34	2	600	2	PTH2R	2	209308141	Missense_Mutation	SNP	G	TCGA-HT-7475-01A-11D-2024-08	195029	209308141	33891232	7	26610											
ART3	419	broad.mit.edu	37	4	77018801	77018801	+	Silent	SNP	A	A	G			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr4:77018801A>G	ENST00000355810.4	+	4	905	c.786A>G	c.(784-786)ctA>ctG	p.L262L	ART3_ENST00000341029.5_Silent_p.L262L|ART3_ENST00000349321.3_Silent_p.L262L|ART3_ENST00000513494.1_3'UTR	NM_001130016.2	NP_001123488.1	Q13508	NAR3_HUMAN	ADP-ribosyltransferase 3	262					protein ADP-ribosylation	anchored to membrane|integral to plasma membrane	NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|stomach(1)	16			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			TTTCAGGACTAAAAACCGAAA	0.323													18	51					0	0	0.014323	0	0	G	77018801	A	G	77018801	2	3	236	1	0	0	0	0	0	0	0	1	997	349	13	3		3	ART3	4	77018801	Silent	SNP	A	TCGA-HT-7475-01A-11D-2024-08		77018801	114135475	8	26611											
BMP2K	55589	broad.mit.edu	37	4	79793907	79793907	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr4:79793907C>T	ENST00000335016.5	+	13	1914	c.1748C>T	c.(1747-1749)cCa>cTa	p.P583L	BMP2K_ENST00000502871.1_Missense_Mutation_p.P583L	NM_198892.1	NP_942595.1	Q9NSY1	BMP2K_HUMAN	BMP2 inducible kinase	583						nucleus	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	13						TCATCACTTCCAGCTCAGGTT	0.448													34	44					0	0	0.003271	0	0	T	79793907	C	T	79793907	3	4	236	1	0	0	0	0	1	0	0	0	1459	594	21	2	1798	2	BMP2K	4	79793907	Missense_Mutation	SNP	C	TCGA-HT-7475-01A-11D-2024-08	2775106	79793907	111360369	9	26612											
KLKB1	3818	broad.mit.edu	37	4	187178500	187178500	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr4:187178500G>A	ENST00000264690.6	+	14	1893	c.1706G>A	c.(1705-1707)gGg>gAg	p.G569E	KLKB1_ENST00000513864.1_Intron	NM_000892.3	NP_000883.2	P03952	KLKB1_HUMAN	kallikrein B, plasma (Fletcher factor) 1	569	Peptidase S1.				blood coagulation, intrinsic pathway|Factor XII activation|fibrinolysis|plasminogen activation|positive regulation of fibrinolysis	cytoplasm|extracellular space|plasma membrane	serine-type endopeptidase activity	p.G569E(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	40		all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168)		TATAAAGAAGGGGGAAAAGAT	0.323													7	153					0	0	0.008291	0	0	A	187178500	G	A	187178500	3	1	236	1	0	0	0	0	1	0	0	0	8455	1232	43	2	1756	2	KLKB1	4	187178500	Missense_Mutation	SNP	G	TCGA-HT-7475-01A-11D-2024-08	107384593	187178500	3975776	10	26613											
SRP19	6728	broad.mit.edu	37	5	112203073	112203073	+	Silent	SNP	T	T	C			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr5:112203073T>C	ENST00000282999.3	+	5	378	c.306T>C	c.(304-306)taT>taC	p.Y102Y	SRP19_ENST00000505459.1_Intron|SRP19_ENST00000515463.1_Intron|CTC-554D6.1_ENST00000520401.1_Intron|CTC-487M23.8_ENST00000512790.1_Intron|CTC-487M23.8_ENST00000506997.1_Intron			P09132	SRP19_HUMAN	signal recognition particle 19kDa	102					response to drug|SRP-dependent cotranslational protein targeting to membrane	cytosol|mitochondrion|nucleolus|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding			breast(1)|cervix(1)|large_intestine(1)	3		all_cancers(142;0.00328)|all_epithelial(76;6.39e-05)|Prostate(80;0.00174)|Colorectal(10;0.00372)|Ovarian(225;0.156)		Epithelial(69;1.7e-09)|OV - Ovarian serous cystadenocarcinoma(64;1.17e-08)|all cancers(49;3.96e-07)|Colorectal(14;0.0056)|COAD - Colon adenocarcinoma(37;0.0104)		TCTCAGATTATACACTAAGCC	0.308													29	31					0	0	0.009535	0	0	C	112203073	T	C	112203073	2	2	236	1	0	0	0	0	0	0	0	1	15210	1421	49	3		3	SRP19	5	112203073	Silent	SNP	T	TCGA-HT-7475-01A-11D-2024-08		112203073	68712187	11	26614											
EBF1	1879	broad.mit.edu	37	5	158140057	158140057	+	Silent	SNP	G	G	A			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr5:158140057G>A	ENST00000313708.6	-	13	1572	c.1290C>T	c.(1288-1290)caC>caT	p.H430H	EBF1_ENST00000380654.4_Silent_p.H399H|EBF1_ENST00000517373.1_Silent_p.H422H|EBF1_ENST00000518836.1_5'UTR	NM_024007.3	NP_076870.1	Q9UH73	COE1_HUMAN	early B-cell factor 1	430					multicellular organismal development	nucleus	DNA binding|metal ion binding		HMGA2/EBF1(2)	breast(3)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TCATCCCTGCGTGGACCGAGG	0.557			T	HMGA2	lipoma								38	37					0	0	0.006999	0	0	A	158140057	G	A	158140057	2	1	236	1	0	0	0	0	0	0	0	1	4906	1136	40	1		1	EBF1	5	158140057	Silent	SNP	G	TCGA-HT-7475-01A-11D-2024-08	45936984	158140057	22775203	12	26615											
ZNF454	285676	broad.mit.edu	37	5	178392212	178392221	+	Frame_Shift_Del	DEL	GAAGCCTTTT	GAAGCCTTTT	-			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr5:178392212_178392221delGAAGCCTTTT	ENST00000320129.3	+	5	1110_1119	c.807_816delGAAGCCTTTT	c.(805-816)gagaagccttttfs	p.EKPF269fs	ZNF454_ENST00000519564.1_Frame_Shift_Del_p.EKPF269fs	NM_001178090.1|NM_182594.2	NP_001171561.1|NP_872400.2	Q8N9F8	ZN454_HUMAN	zinc finger protein 454	269					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(11)|lung(18)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)	46	all_cancers(89;0.000904)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.225)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.234)		ATACTGGAGAGAAGCCTTTTGAATGCAACT	0.395													24	68	---	---	---	---						-	178392221	GAAGCCTTTT	-	178392212	7	5	236	1	0	1	0	1	0	0	0	0	17980	933	33	0	821	0	ZNF454	5	178392212	Frame_Shift_Del	DEL	GAAGCCTTTT	TCGA-HT-7475-01A-11D-2024-08	20252155	178392212	2523048	13	26616											
C2	717	broad.mit.edu	37	6	31902169	31902169	+	Silent	SNP	C	C	A			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr6:31902169C>A	ENST00000418949.2	+	6	992	c.942C>A	c.(940-942)gcC>gcA	p.A314A	CFB_ENST00000556679.1_Intron|C2_ENST00000299367.5_Intron|C2_ENST00000452323.2_Intron|C2_ENST00000442278.2_Intron|C2_ENST00000469372.1_Intron|CFB_ENST00000456570.1_Intron|CFB_ENST00000477310.1_Intron	NM_001282459.1	NP_001269388.1			complement component 2											haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	27		Ovarian(999;0.00965)		LUAD - Lung adenocarcinoma(999;0.247)		CACTCACAGCCCACCTCCTCC	0.473													15	27					1.49906e-05	1.70441e-05	0.00245	1	0	A	31902169	C	A	31902169	2	1	236	1	0	0	0	0	0	0	0	1	2088	638	22	5		5	C2	6	31902169	Silent	SNP	C	TCGA-HT-7475-01A-11D-2024-08		31902169	139212898	14	26617											
CFB	629	broad.mit.edu	37	6	31911098	31911098	+	Splice_Site	SNP	T	T	C			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr6:31911098T>C	ENST00000556679.1	+	8	1051		c.e8+2		C2_ENST00000299367.5_Splice_Site|C2_ENST00000452323.2_Splice_Site|C2_ENST00000442278.2_Splice_Site|C2_ENST00000469372.1_Splice_Site|CFB_ENST00000456570.1_Splice_Site|CFB_ENST00000477310.1_Splice_Site			P00751	CFAB_HUMAN	complement factor B						complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						ACTATTAAGGTACCAGGAAGG	0.552													24	28					0	0	0.00333	0	0	C	31911098	T	C	31911098	5	2	236	1	0	0	0	0	0	0	1	0	3300	1652	57	3		3	CFB	6	31911098	Splice_Site	SNP	T	TCGA-HT-7475-01A-11D-2024-08	8929	31911098	139203969	15	26618											
FANCE	2178	broad.mit.edu	37	6	35423550	35423550	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr6:35423550G>A	ENST00000229769.2	+	2	460	c.275G>A	c.(274-276)cGg>cAg	p.R92Q		NM_021922.2	NP_068741.1	Q9HB96	FANCE_HUMAN	Fanconi anemia, complementation group E	92					DNA repair	nucleoplasm	protein binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(1)|skin(2)	13						CGATTGCCCCGGATATGCCAG	0.592			"N, F, S"			"AML, leukemia"		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				47	41					0	0	0.01441	0	0	A	35423550	G	A	35423550	3	1	236	1	0	0	0	0	1	0	0	0	5699	1116	39	1	281	1	FANCE	6	35423550	Missense_Mutation	SNP	G	TCGA-HT-7475-01A-11D-2024-08	3512452	35423550	135691517	16	26619											
AKAP9	10142	broad.mit.edu	37	7	91736724	91736724	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr7:91736724C>T	ENST00000359028.2	+	48	11771	c.11546C>T	c.(11545-11547)cCa>cTa	p.P3849L	AKAP9_ENST00000358100.2_Missense_Mutation_p.P3795L|AKAP9_ENST00000356239.3_Missense_Mutation_p.P3845L			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	3849					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TCCCCTTTACCATTTCAGAAT	0.353			T	BRAF	papillary thyroid								89	32					0	0	0.01441	0	0	T	91736724	C	T	91736724	3	4	236	1	0	0	0	0	1	0	0	0	456	594	21	2	11724	2	AKAP9	7	91736724	Missense_Mutation	SNP	C	TCGA-HT-7475-01A-11D-2024-08		91736724	67401939	17	26620											
PIK3CG	5294	broad.mit.edu	37	7	106508596	106508596	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr7:106508596C>T	ENST00000359195.3	+	2	900	c.590C>T	c.(589-591)gCc>gTc	p.A197V	PIK3CG_ENST00000440650.2_Missense_Mutation_p.A197V|PIK3CG_ENST00000496166.1_Missense_Mutation_p.A197V	NM_001282427.1|NM_002649.2	NP_001269356.1|NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	197					G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						AAGCTCTACGCCATGCACCCG	0.632													21	149					0	0	0.012319	0	0	T	106508596	C	T	106508596	3	4	236	1	0	0	0	0	1	0	0	0	11964	739	26	2	592	2	PIK3CG	7	106508596	Missense_Mutation	SNP	C	TCGA-HT-7475-01A-11D-2024-08	14771872	106508596	52630067	18	26621											
COG5	10466	broad.mit.edu	37	7	106938740	106938740	+	Missense_Mutation	SNP	C	C	T	rs35258567	byFrequency	TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr7:106938740C>T	ENST00000393603.2	-	12	1524	c.1253G>A	c.(1252-1254)cGt>cAt	p.R418H	COG5_ENST00000297135.3_Missense_Mutation_p.R418H|COG5_ENST00000347053.3_Missense_Mutation_p.R418H	NM_001161520.1	NP_001154992.1	Q9UP83	COG5_HUMAN	component of oligomeric golgi complex 5	418					intra-Golgi vesicle-mediated transport|protein transport	cytosol|Golgi membrane|Golgi transport complex|nucleus	protein binding			breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|skin(4)|stomach(1)	40						ATTATAAAGACGTAATAATTT	0.343													82	31					0	0	0.01441	0	0	T	106938740	C	T	106938740	3	4	236	1	0	0	0	0	1	0	0	0	3684	536	19	1	1377	1	COG5	7	106938740	Missense_Mutation	SNP	C	TCGA-HT-7475-01A-11D-2024-08	430144	106938740	52199923	19	26622											
FGF20	26281	broad.mit.edu	37	8	16850596	16850596	+	Silent	SNP	T	T	C			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr8:16850596T>C	ENST00000180166.5	-	3	769	c.621A>G	c.(619-621)ctA>ctG	p.L207L		NM_019851.2	NP_062825.1	Q9NP95	FGF20_HUMAN	fibroblast growth factor 20	207					cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway	extracellular region|soluble fraction	growth factor activity			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	11				Colorectal(111;0.0511)|COAD - Colon adenocarcinoma(73;0.207)		TGTACATCAGTAGGTCCTTGT	0.423													36	67					0	0	0.011902	0	0	C	16850596	T	C	16850596	2	2	236	1	0	0	0	0	0	0	0	1	5882	1625	57	3		3	FGF20	8	16850596	Silent	SNP	T	TCGA-HT-7475-01A-11D-2024-08		16850596	129513426	20	26623											
TMEM66	51669	broad.mit.edu	37	8	29923548	29923548	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr8:29923548T>C	ENST00000256255.6	-	5	1207	c.950A>G	c.(949-951)tAt>tGt	p.Y317C	TMEM66_ENST00000545648.1_Missense_Mutation_p.Y145C|TMEM66_ENST00000536273.1_Missense_Mutation_p.Y145C	NM_016127.4	NP_057211.4	Q96BY9	TMM66_HUMAN	transmembrane protein 66	317						integral to membrane				endometrium(2)|large_intestine(1)|lung(11)	14				KIRC - Kidney renal clear cell carcinoma(542;0.0993)|Kidney(114;0.119)		ACATACCGAATAGCTGCCCGA	0.473													5	75					0	0	0.000602	0	0	C	29923548	T	C	29923548	3	2	236	1	0	0	0	0	1	0	0	0	16255	1406	49	3	77	3	TMEM66	8	29923548	Missense_Mutation	SNP	T	TCGA-HT-7475-01A-11D-2024-08	13072952	29923548	116440474	21	26624											
ZMAT4	79698	broad.mit.edu	37	8	40532420	40532420	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr8:40532420C>T	ENST00000297737.6	-	5	526	c.380G>A	c.(379-381)cGg>cAg	p.R127Q	ZMAT4_ENST00000315769.7_Intron	NM_024645.2	NP_078921.1	Q9H898	ZMAT4_HUMAN	zinc finger, matrin-type 4	127						nucleus	DNA binding|zinc ion binding			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	18	Ovarian(28;0.00724)|Colorectal(14;0.0468)	all_cancers(7;0.00936)|all_epithelial(6;3.53e-06)|all_lung(54;0.0318)|Lung NSC(58;0.0919)|Esophageal squamous(32;0.15)|Hepatocellular(245;0.152)	LUSC - Lung squamous cell carcinoma(45;0.00722)			AGTGTCCATCCGTGGGGGCTT	0.527													56	106					0	0	0.01441	0	0	T	40532420	C	T	40532420	3	4	236	1	0	0	0	0	1	0	0	0	17752	652	23	1	321	1	ZMAT4	8	40532420	Missense_Mutation	SNP	C	TCGA-HT-7475-01A-11D-2024-08	10608872	40532420	105831602	22	26625											
PKHD1L1	93035	broad.mit.edu	37	8	110493686	110493686	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr8:110493686G>A	ENST00000378402.5	+	56	9456	c.9352G>A	c.(9352-9354)Gaa>Aaa	p.E3118K		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	3118	G8 2.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CGGTGGCTGGGAAGATAACCC	0.378										HNSCC(38;0.096)			15	7					0	0	0.004007	0	0	A	110493686	G	A	110493686	3	1	236	1	0	0	0	0	1	0	0	0	12020	1175	41	2	9574	2	PKHD1L1	8	110493686	Missense_Mutation	SNP	G	TCGA-HT-7475-01A-11D-2024-08	69961266	110493686	35870336	23	26626											
COL22A1	169044	broad.mit.edu	37	8	139791795	139791795	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr8:139791795C>T	ENST00000303045.6	-	14	2107	c.1661G>A	c.(1660-1662)gGa>gAa	p.G554E	COL22A1_ENST00000435777.1_Missense_Mutation_p.G554E	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	554	Collagen-like 2.|Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			TCCCAGCTCTCCTGGCTCCCC	0.622										HNSCC(7;0.00092)			20	71					0	0	0.003954	0	0	T	139791795	C	T	139791795	3	4	236	1	0	0	0	0	1	0	0	0	3704	855	30	2	3427	2	COL22A1	8	139791795	Missense_Mutation	SNP	C	TCGA-HT-7475-01A-11D-2024-08	29298109	139791795	6572227	24	26627											
DUPD1	338599	broad.mit.edu	37	10	76803657	76803657	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr10:76803657G>A	ENST00000338487.5	-	2	318	c.319C>T	c.(319-321)Cag>Tag	p.Q107*		NM_001003892.1	NP_001003892.1	Q68J44	DUPD1_HUMAN	dual specificity phosphatase and pro isomerase domain containing 1	107	Tyrosine-protein phosphatase.					cytoplasm	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			breast(1)|endometrium(2)|lung(5)|ovary(2)|urinary_tract(1)	11	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					CCGTGGTACTGGATGTCCATG	0.642													35	51					0	0	0.004878	0	0	A	76803657	G	A	76803657	4	1	236	1	0	0	0	0	0	1	0	0	4830	1357	47	2	351	2	DUPD1	10	76803657	Nonsense_Mutation	SNP	G	TCGA-HT-7475-01A-11D-2024-08		76803657	58731090	25	26628											
HPS6	79803	broad.mit.edu	37	10	103826085	103826085	+	Missense_Mutation	SNP	T	T	G			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr10:103826085T>G	ENST00000299238.5	+	1	939	c.854T>G	c.(853-855)tTc>tGc	p.F285C		NM_024747.5	NP_079023.2	Q86YV9	HPS6_HUMAN	Hermansky-Pudlak syndrome 6	285						cytosol|early endosome membrane|endoplasmic reticulum|microsome				endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)	11		Colorectal(252;0.122)		Epithelial(162;5.93e-08)|all cancers(201;1.03e-06)		TTGCTTGACTTCGGGGGCACT	0.682									Hermansky-Pudlak syndrome				18	36					0	0	0.007413	0	0	G	103826085	T	G	103826085	3	3	236	1	0	0	0	0	1	0	0	0	7384	1783	62	5	856	5	HPS6	10	103826085	Missense_Mutation	SNP	T	TCGA-HT-7475-01A-11D-2024-08	27022428	103826085	31708662	26	26629											
PHF21A	51317	broad.mit.edu	37	11	45959824	45959824	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr11:45959824T>C	ENST00000257821.4	-	15	2115	c.1492A>G	c.(1492-1494)Agt>Ggt	p.S498G	PHF21A_ENST00000418153.2_Missense_Mutation_p.S497G|PHF21A_ENST00000323180.6_Missense_Mutation_p.S451G|PHF21A_ENST00000527753.1_5'UTR	NM_001101802.1	NP_001095272.1	Q96BD5	PF21A_HUMAN	PHD finger protein 21A	497	Required for transcriptional repression.				blood coagulation|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|transcription, DNA-dependent	histone deacetylase complex	DNA binding|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(10)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	29						AACTGGCCACTTTTTCTGCAA	0.403													26	34					0	0	0.008361	0	0	C	45959824	T	C	45959824	3	2	236	1	0	0	0	0	1	0	0	0	11881	1609	56	3	569	3	PHF21A	11	45959824	Missense_Mutation	SNP	T	TCGA-HT-7475-01A-11D-2024-08		45959824	89046692	27	26630											
OR5M3	219482	broad.mit.edu	37	11	56237959	56237959	+	Silent	SNP	G	G	A			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr11:56237959G>A	ENST00000312240.2	-	1	55	c.15C>T	c.(13-15)acC>acT	p.T5T		NM_001004742.2	NP_001004742.2	Q8NGP4	OR5M3_HUMAN	olfactory receptor, family 5, subfamily M, member 3	5					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	37	Esophageal squamous(21;0.00448)					CTGTCACATCGGTGAAATTGA	0.328													19	36					0	0	0.008871	0	0	A	56237959	G	A	56237959	2	1	236	1	0	0	0	0	0	0	0	1	11222	1103	39	1		1	OR5M3	11	56237959	Silent	SNP	G	TCGA-HT-7475-01A-11D-2024-08	10278135	56237959	78768557	28	26631											
OR4D6	219983	broad.mit.edu	37	11	59224535	59224535	+	Silent	SNP	G	G	T			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr11:59224535G>T	ENST00000300127.2	+	1	125	c.102G>T	c.(100-102)gtG>gtT	p.V34V		NM_001004708.1	NP_001004708.1	Q8NGJ1	OR4D6_HUMAN	olfactory receptor, family 4, subfamily D, member 6	34					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	34						TCTTTGCTGTGTATGTAGCAA	0.458													6	94					8.12818e-05	9.11675e-05	0.001984	1	0	T	59224535	G	T	59224535	2	4	236	1	0	0	0	0	0	0	0	1	11106	1364	48	5		5	OR4D6	11	59224535	Silent	SNP	G	TCGA-HT-7475-01A-11D-2024-08	2986576	59224535	75781981	29	26632											
USP35	57558	broad.mit.edu	37	11	77916930	77916930	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr11:77916930G>A	ENST00000529308.1	+	7	1501	c.1240G>A	c.(1240-1242)Ggg>Agg	p.G414R	USP35_ENST00000530267.1_5'UTR|USP35_ENST00000530535.1_Intron|USP35_ENST00000526425.1_Missense_Mutation_p.G145R|USP35_ENST00000441408.2_5'UTR	NM_020798.2	NP_065849.1	Q9P2H5	UBP35_HUMAN	ubiquitin specific peptidase 35	414					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1)	23	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)			GCAGCTGCTGGGGCAGGATGC	0.587													71	89					0	0	0.01441	0	0	A	77916930	G	A	77916930	3	1	236	1	0	0	0	0	1	0	0	0	17126	1232	43	2	1262	2	USP35	11	77916930	Missense_Mutation	SNP	G	TCGA-HT-7475-01A-11D-2024-08	18692395	77916930	57089586	30	26633											
TNFRSF1A	7132	broad.mit.edu	37	12	6438610	6438610	+	Silent	SNP	C	C	T			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr12:6438610C>T	ENST00000162749.2	-	10	1535	c.1236G>A	c.(1234-1236)ccG>ccA	p.P412P	TNFRSF1A_ENST00000540022.1_Silent_p.P369P	NM_001065.3	NP_001056.1	P19438	TNR1A_HUMAN	tumor necrosis factor receptor superfamily, member 1A	412	Death.			Missing (in Ref. 5; AAA36756).	apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|inflammatory response|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of inflammatory response|positive regulation of transcription from RNA polymerase II promoter|prostaglandin metabolic process	extracellular region|integral to plasma membrane|membrane raft	tumor necrosis factor receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	19						CCTCGCGCCGCGGCGTGCGCC	0.721													5	6					0	0	0.000602	0	0	T	6438610	C	T	6438610	2	4	236	1	0	0	0	0	0	0	0	1	16353	755	27	1		1	TNFRSF1A	12	6438610	Silent	SNP	C	TCGA-HT-7475-01A-11D-2024-08		6438610	127413285	31	26634											
LRP1	4035	broad.mit.edu	37	12	57547993	57547993	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr12:57547993G>A	ENST00000243077.3	+	7	1310	c.844G>A	c.(844-846)Gtg>Atg	p.V282M	LRP1_ENST00000554174.1_Missense_Mutation_p.V282M	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	282					aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CTCTCCAGACGTGGAACAGAT	0.527													7	156					0	0	0.004482	0	0	A	57547993	G	A	57547993	3	1	236	1	0	0	0	0	1	0	0	0	8996	1145	40	1	870	1	LRP1	12	57547993	Missense_Mutation	SNP	G	TCGA-HT-7475-01A-11D-2024-08	51109383	57547993	76303902	32	26635											
SMOC1	64093	broad.mit.edu	37	14	70442501	70442502	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr14:70442501_70442502delTC	ENST00000381280.4	+	4	701_702	c.448_449delTC	c.(448-450)tctfs	p.S150fs	SMOC1_ENST00000361956.3_Frame_Shift_Del_p.S150fs	NM_001034852.2|NM_022137.5	NP_001030024.1|NP_071420.1	Q9H4F8	SMOC1_HUMAN	SPARC related modular calcium binding 1	150	Thyroglobulin type-1 1.				cell differentiation|eye development|limb development|regulation of osteoblast differentiation|signal transduction	basement membrane	calcium ion binding	p.S150F(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	21				all cancers(60;0.00417)|BRCA - Breast invasive adenocarcinoma(234;0.0119)|OV - Ovarian serous cystadenocarcinoma(108;0.028)		CAGTGGCTCTTCTGTGCAGAAT	0.525													24	41	---	---	---	---						-	70442502	TC	-	70442501	7	5	236	1	0	1	0	1	0	0	0	0	14855	1783	62	0	462	0	SMOC1	14	70442501	Frame_Shift_Del	DEL	TC	TCGA-HT-7475-01A-11D-2024-08		70442501	36907039	33	26636											
AHNAK2	113146	broad.mit.edu	37	14	105409595	105409595	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr14:105409595C>T	ENST00000333244.5	-	7	12312	c.12193G>A	c.(12193-12195)Gac>Aac	p.D4065N	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4065						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CCCTTGAGGTCCACTTTGGGC	0.602													93	182					0	0	0.01441	0	0	T	105409595	C	T	105409595	3	4	236	1	0	0	0	0	1	0	0	0	412	855	30	2	5198	2	AHNAK2	14	105409595	Missense_Mutation	SNP	C	TCGA-HT-7475-01A-11D-2024-08	34967094	105409595	1939945	34	26637											
SCNN1B	6338	broad.mit.edu	37	16	23382718	23382718	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr16:23382718C>T	ENST00000343070.2	+	6	1155	c.979C>T	c.(979-981)Ccc>Tcc	p.P327S	SCNN1B_ENST00000568085.1_Missense_Mutation_p.P327S|SCNN1B_ENST00000568923.1_Missense_Mutation_p.P300S|SCNN1B_ENST00000307331.5_Missense_Mutation_p.P372S	NM_000336.2	NP_000327.2	P51168	SCNNB_HUMAN	sodium channel, non-voltage-gated 1, beta subunit	327					excretion|sensory perception of taste	apical plasma membrane	ligand-gated sodium channel activity|WW domain binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(48;0.0465)	Amiloride(DB00594)|Triamterene(DB00384)	GAGGTCATACCCCTTCATCAG	0.602													14	32					0	0	0.001855	0	0	T	23382718	C	T	23382718	3	4	236	1	0	0	0	0	1	0	0	0	13982	623	22	2	997	2	SCNN1B	16	23382718	Missense_Mutation	SNP	C	TCGA-HT-7475-01A-11D-2024-08		23382718	66972035	35	26638											
EIF4A1	1973	broad.mit.edu	37	17	7477923	7477923	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr17:7477923delC	ENST00000293831.8	+	3	148	c.132delC	c.(130-132)ctcfs	p.L44fs	EIF4A1_ENST00000582746.1_Frame_Shift_Del_p.L44fs|EIF4A1_ENST00000577269.1_Frame_Shift_Del_p.L44fs|SENP3-EIF4A1_ENST00000579777.1_RNA|EIF4A1_ENST00000380512.5_Frame_Shift_Del_p.L28fs	NM_001416.3	NP_001407.1	P60842	IF4A1_HUMAN	eukaryotic translation initiation factor 4A1	44					nuclear-transcribed mRNA poly(A) tail shortening	cytosol|eukaryotic translation initiation factor 4F complex	ATP binding|ATP-dependent helicase activity|mRNA binding|protein binding|RNA cap binding|translation initiation factor activity			NS(1)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	22						AGTCCCTTCTCCGTGGCATCT	0.478													28	52	---	---	---	---						-	7477923	C	-	7477923	7	5	236	1	0	1	0	1	0	0	0	0	5052	842	30	0	142	0	EIF4A1	17	7477923	Frame_Shift_Del	DEL	C	TCGA-HT-7475-01A-11D-2024-08		7477923	73717287	36	26639											
TP53	7157	broad.mit.edu	37	17	7578226	7578226	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr17:7578226T>C	ENST00000420246.2	-	6	755	c.623A>G	c.(622-624)gAc>gGc	p.D208G	TP53_ENST00000574684.1_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.D208G|TP53_ENST00000413465.2_Missense_Mutation_p.D208G|TP53_ENST00000455263.2_Missense_Mutation_p.D208G|TP53_ENST00000445888.2_Missense_Mutation_p.D208G|TP53_ENST00000269305.4_Missense_Mutation_p.D208G	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	208	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		D -> E (in sporadic cancers; somatic mutation).|D -> G (in sporadic cancers; somatic mutation).|D -> H (in a sporadic cancer; somatic mutation).|D -> I (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|D -> N (in sporadic cancers; somatic mutation).|D -> V (in sporadic cancers; somatic mutation).|D -> Y (in a sporadic cancer; somatic mutation).|DD -> EY (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.D208V(14)|p.0?(8)|p.?(5)|p.D208G(3)|p.D207fs*6(2)|p.D208fs*1(1)|p.D207_R213delDDRNTFR(1)|p.D208fs*39(1)|p.D208fs*38(1)|p.D207_V216del10(1)|p.D208I(1)|p.E204_N210delEYLDDRN(1)|p.D208_V216delDRNTFRHSV(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)		AGTGTTTCTGTCATCCAAATA	0.532		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)			17	32					0	0	0.00499	0	0	C	7578226	T	C	7578226	3	2	236	1	0	0	0	0	1	0	0	0	16442	1667	58	3	671	3	TP53	17	7578226	Missense_Mutation	SNP	T	TCGA-HT-7475-01A-11D-2024-08	100303	7578226	73616984	37	26640											
TP53	7157	broad.mit.edu	37	17	7579358	7579358	+	Missense_Mutation	SNP	C	C	G	rs11540654		TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr17:7579358C>G	ENST00000420246.2	-	4	461	c.329G>C	c.(328-330)cGt>cCt	p.R110P	TP53_ENST00000359597.4_Missense_Mutation_p.R110P|TP53_ENST00000413465.2_Missense_Mutation_p.R110P|TP53_ENST00000455263.2_Missense_Mutation_p.R110P|TP53_ENST00000445888.2_Missense_Mutation_p.R110P|TP53_ENST00000269305.4_Missense_Mutation_p.R110P	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	110	Interaction with HIPK1 (By similarity).|Interaction with WWOX.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in a sporadic cancer; somatic mutation).|R -> H (in sporadic cancers; somatic mutation).|R -> L (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation; dbSNP:rs11540654).|R -> S (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.R110L(36)|p.R110P(9)|p.0?(8)|p.G59fs*23(3)|p.R110fs*13(2)|p.F109_R110delFR(2)|p.R110H(2)|p.V73fs*9(1)|p.G105_T125del21(1)|p.Y107fs*44(1)|p.R110fs*39(1)|p.Y103_G112>C(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.Y107fs*38(1)|p.Y103_L111>L(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)		GAAGCCCAGACGGAAACCGTA	0.612		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)			21	41					0	0	0.010504	0	0	G	7579358	C	G	7579358	3	3	236	1	0	0	0	0	1	0	0	0	16442	536	19	5	973	5	TP53	17	7579358	Missense_Mutation	SNP	C	TCGA-HT-7475-01A-11D-2024-08	1132	7579358	73615852	38	26641											
EZH1	2145	broad.mit.edu	37	17	40869993	40869993	+	Splice_Site	SNP	C	C	A			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr17:40869993C>A	ENST00000428826.2	-	10	1145		c.e10+1		EZH1_ENST00000585893.1_Splice_Site|EZH1_ENST00000415827.2_Splice_Site|EZH1_ENST00000435174.1_Splice_Site|EZH1_ENST00000590078.1_Splice_Site|EZH1_ENST00000592743.1_Splice_Site			Q92800	EZH1_HUMAN	enhancer of zeste homolog 1 (Drosophila)						anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	chromatin binding|DNA binding			breast(1)|endometrium(4)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	27		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0784)		TAAGAACATACCAGCAAAAGG	0.413													19	25					1.96292e-10	2.26281e-10	0.010504	1	0	A	40869993	C	A	40869993	5	1	236	1	0	0	0	0	0	0	1	0	5361	521	18	5	1267	5	EZH1	17	40869993	Splice_Site	SNP	C	TCGA-HT-7475-01A-11D-2024-08	33290635	40869993	40325217	39	26642											
MPO	4353	broad.mit.edu	37	17	56357985	56357985	+	Silent	SNP	G	G	A			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr17:56357985G>A	ENST00000340482.3	-	1	311	c.135C>T	c.(133-135)ccC>ccT	p.P45P	MPO_ENST00000225275.3_Silent_p.P45P			P05164	PERM_HUMAN	myeloperoxidase	45					anti-apoptosis|hydrogen peroxide catabolic process|low-density lipoprotein particle remodeling	extracellular space|lysosome|nucleus|stored secretory granule	chromatin binding|heme binding|heparin binding|peroxidase activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	46					Cefdinir(DB00535)	CACCTTCAGAGGGCTGGGGCG	0.597													22	51					0	0	0.003954	0	0	A	56357985	G	A	56357985	2	1	236	1	0	0	0	0	0	0	0	1	9781	987	35	2		2	MPO	17	56357985	Silent	SNP	G	TCGA-HT-7475-01A-11D-2024-08	15487992	56357985	24837225	40	26643											
CD300LB	124599	broad.mit.edu	37	17	72518906	72518906	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr17:72518906C>T	ENST00000392621.1	-	4	692	c.688G>A	c.(688-690)Gaa>Aaa	p.E230K		NM_174892.2	NP_777552	A8K4G0	CLM7_HUMAN	CD300 molecule-like family member b	193						integral to membrane|plasma membrane	receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(1)	21						GTCAGAGGTTCGGAGAAGTTC	0.547													32	47					0	0	0.003271	0	0	T	72518906	C	T	72518906	3	4	236	1	0	0	0	0	1	0	0	0	3021	893	31	1	32	1	CD300LB	17	72518906	Missense_Mutation	SNP	C	TCGA-HT-7475-01A-11D-2024-08	16160921	72518906	8676304	41	26644											
PTPRM	5797	broad.mit.edu	37	18	7949178	7949178	+	Splice_Site	SNP	G	G	A			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr18:7949178G>A	ENST00000332175.8	+	6	1700		c.e6-1		PTPRM_ENST00000400053.4_Splice_Site|PTPRM_ENST00000444013.1_Splice_Site|PTPRM_ENST00000400060.4_Splice_Site|PTPRM_ENST00000580170.1_Splice_Site	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M						homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				ACTTGATACAGGGCATTGATG	0.448													37	50					0	0	0.009718	0	0	A	7949178	G	A	7949178	5	1	236	1	0	0	0	0	0	0	1	0	12858	1014	35	2	685	2	PTPRM	18	7949178	Splice_Site	SNP	G	TCGA-HT-7475-01A-11D-2024-08		7949178	70128070	42	26645											
DSG1	1828	broad.mit.edu	37	18	28911710	28911710	+	Missense_Mutation	SNP	C	C	A			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr18:28911710C>A	ENST00000257192.4	+	6	776	c.564C>A	c.(562-564)aaC>aaA	p.N188K		NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	188	Cadherin 2.				calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			ATGAACCGAACAATTTGAACT	0.333													20	36					1.96292e-10	2.26281e-10	0.010504	1	0	A	28911710	C	A	28911710	3	1	236	1	0	0	0	0	1	0	0	0	4802	477	17	5	586	5	DSG1	18	28911710	Missense_Mutation	SNP	C	TCGA-HT-7475-01A-11D-2024-08	20962532	28911710	49165538	43	26646											
NOL4	8715	broad.mit.edu	37	18	31709958	31709958	+	Silent	SNP	T	T	C			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr18:31709958T>C	ENST00000261592.5	-	2	588	c.291A>G	c.(289-291)ctA>ctG	p.L97L	NOL4_ENST00000538587.1_Silent_p.L23L|NOL4_ENST00000535475.1_5'UTR|NOL4_ENST00000269185.4_5'UTR|NOL4_ENST00000589544.1_Silent_p.L97L	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN	nucleolar protein 4	97						nucleolus	RNA binding			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						GTCGTAAAGATAGCTTCTCAT	0.373													18	27					0	0	0.006122	0	0	C	31709958	T	C	31709958	2	2	236	1	0	0	0	0	0	0	0	1	10571	1393	49	3		3	NOL4	18	31709958	Silent	SNP	T	TCGA-HT-7475-01A-11D-2024-08	2798248	31709958	46367290	44	26647											
PIK3R2	5296	broad.mit.edu	37	19	18272833	18272833	+	Silent	SNP	C	C	T	rs68016487		TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr19:18272833C>T	ENST00000593731.1	+	7	1433	c.873C>T	c.(871-873)caC>caT	p.H291H	PIK3R2_ENST00000222254.8_Silent_p.H291H			O00459	P85B_HUMAN	phosphoinositide-3-kinase, regulatory subunit 2 (beta)	291	Rho-GAP.				fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|negative regulation of anti-apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|T cell costimulation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	GTPase activator activity|phosphatidylinositol 3-kinase regulator activity|protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(3)|pancreas(1)|stomach(1)	24						TTCAGGAACACTTGGAAGAGC	0.612													28	37					0	0	0.008361	0	0	T	18272833	C	T	18272833	2	4	236	1	0	0	0	0	0	0	0	1	11967	564	20	2		2	PIK3R2	19	18272833	Silent	SNP	C	TCGA-HT-7475-01A-11D-2024-08		18272833	40856150	45	26648											
ZNF506	440515	broad.mit.edu	37	19	19905656	19905656	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr19:19905656C>T	ENST00000443905.2	-	4	1187	c.1040G>A	c.(1039-1041)gGc>gAc	p.G347D	CTC-559E9.4_ENST00000590274.1_lincRNA|ZNF506_ENST00000450683.2_Missense_Mutation_p.G315D|ZNF506_ENST00000587461.1_Intron|ZNF506_ENST00000540806.2_Missense_Mutation_p.G347D|CTC-559E9.6_ENST00000591884.1_RNA|CTC-559E9.6_ENST00000589657.1_RNA			Q5JVG8	ZN506_HUMAN	zinc finger protein 506	347					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(7)|lung(3)|skin(1)|stomach(1)	14						AAAGGTTTTGCCACATTCGTC	0.408													4	71					0	0	0.009096	0	0	T	19905656	C	T	19905656	3	4	236	1	0	0	0	0	1	0	0	0	18009	739	26	2	298	2	ZNF506	19	19905656	Missense_Mutation	SNP	C	TCGA-HT-7475-01A-11D-2024-08	1632823	19905656	39223327	46	26649											
ZNF567	163081	broad.mit.edu	37	19	37203719	37203719	+	Missense_Mutation	SNP	T	T	G			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr19:37203719T>G	ENST00000585696.1	+	2	1310	c.80T>G	c.(79-81)tTg>tGg	p.L27W	ZNF567_ENST00000588311.1_Missense_Mutation_p.L27W|ZNF567_ENST00000536254.2_Missense_Mutation_p.L58W|ZNF567_ENST00000392163.2_Missense_Mutation_p.L27W|ZNF567_ENST00000360729.4_Missense_Mutation_p.L27W			Q8N184	ZN567_HUMAN	zinc finger protein 567	58	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			ATCCTCAAGTTGGAACGAGGA	0.423													17	30					0	0	0.006122	0	0	G	37203719	T	G	37203719	3	3	236	1	0	0	0	0	1	0	0	0	18055	1821	63	5	86	5	ZNF567	19	37203719	Missense_Mutation	SNP	T	TCGA-HT-7475-01A-11D-2024-08	17298063	37203719	21925264	47	26650											
ZNF600	162966	broad.mit.edu	37	19	53269430	53269430	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr19:53269430T>C	ENST00000338230.3	-	3	1846	c.1579A>G	c.(1579-1581)Aag>Gag	p.K527E		NM_198457.2	NP_940859	Q6ZNG1	ZN600_HUMAN	zinc finger protein 600	527					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(4)|large_intestine(9)|liver(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(262;0.0241)|GBM - Glioblastoma multiforme(134;0.0404)		TCATTACACTTGTAAGGTTTC	0.453													11	104					0	0	0.010729	0	0	C	53269430	T	C	53269430	3	2	236	1	0	0	0	0	1	0	0	0	18087	1821	63	3	593	3	ZNF600	19	53269430	Missense_Mutation	SNP	T	TCGA-HT-7475-01A-11D-2024-08	16065711	53269430	5859553	48	26651											
MACROD2	140733	broad.mit.edu	37	20	15843442	15843442	+	Missense_Mutation	SNP	A	A	T			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr20:15843442A>T	ENST00000217246.4	+	9	1093	c.698A>T	c.(697-699)aAa>aTa	p.K233I	MACROD2_ENST00000402914.1_5'UTR|MACROD2_ENST00000310348.4_Missense_Mutation_p.K233I	NM_080676.5	NP_542407.2	A1Z1Q3	MACD2_HUMAN	MACRO domain containing 2	233	Macro.									breast(2)|kidney(4)|large_intestine(5)|lung(8)|skin(1)	20		all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175)				AAAATCTACAAAAAGAAAATG	0.348													13	28					0	0	0.003163	0	0	T	15843442	A	T	15843442	3	4	236	1	0	0	0	0	1	0	0	0	9192	14	1	5	732	5	MACROD2	20	15843442	Missense_Mutation	SNP	A	TCGA-HT-7475-01A-11D-2024-08		15843442	47182078	49	26652											
TPTE	7179	broad.mit.edu	37	21	10970032	10970032	+	Silent	SNP	G	G	A	rs147186596		TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr21:10970032G>A	ENST00000298232.7	-	6	463	c.96C>T	c.(94-96)acC>acT	p.T32T	TPTE_ENST00000361285.4_Silent_p.T32T|TPTE_ENST00000342420.5_Silent_p.T32T|TPTE_ENST00000415664.2_5'UTR	NM_199259.2	NP_954868	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	32					signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.T32T(2)|p.E33fs*10(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			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)		GTGCCTCCTCGGTTGCTCCTT	0.398													28	108					0	0	0.007291	0	0	A	10970032	G	A	10970032	2	1	236	1	0	0	0	0	0	0	0	1	16491	1103	39	1		1	TPTE	21	10970032	Silent	SNP	G	TCGA-HT-7475-01A-11D-2024-08		10970032	37159863	50	26653											
CECR1	51816	broad.mit.edu	37	22	17684592	17684592	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr22:17684592G>A	ENST00000399839.1	-	4	884	c.614C>T	c.(613-615)tCg>tTg	p.S205L	CECR1_ENST00000449907.2_Missense_Mutation_p.S163L|CECR1_ENST00000399837.2_Missense_Mutation_p.S205L|CECR1_ENST00000262607.3_Missense_Mutation_p.S205L	NM_001282227.1|NM_001282228.1	NP_001269156.1|NP_001269157.1	Q9NZK5	CECR1_HUMAN	cat eye syndrome chromosome region, candidate 1	205	Substrate binding.				adenosine catabolic process|hypoxanthine salvage|inosine biosynthetic process|multicellular organismal development|purine ribonucleoside monophosphate biosynthetic process	extracellular space|Golgi apparatus	adenosine deaminase activity|adenosine receptor binding|growth factor activity|heparin binding|protein homodimerization activity|proteoglycan binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|prostate(2)|stomach(1)	25		all_epithelial(15;0.0152)|Lung NSC(13;0.0875)|all_lung(157;0.106)				TTCAAATTTCGACCAGACAAC	0.493													17	27					0	0	0.00499	0	0	A	17684592	G	A	17684592	3	1	236	1	0	0	0	0	1	0	0	0	3227	1059	37	1	983	1	CECR1	22	17684592	Missense_Mutation	SNP	G	TCGA-HT-7475-01A-11D-2024-08		17684592	33619974	51	26654											
USP11	8237	broad.mit.edu	37	X	47092455	47092455	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chrX:47092455G>A	ENST00000377107.2	+	1	367	c.13G>A	c.(13-15)Gca>Aca	p.A5T	USP11_ENST00000218348.3_Missense_Mutation_p.A48T			P51784	UBP11_HUMAN	ubiquitin specific peptidase 11	48					protein deubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|ovary(3)|pancreas(1)|stomach(1)	40						ggcgacggtcgcagcaaatcc	0.642													5	2					0	0	0.000602	0	0	A	47092455	G	A	47092455	3	1	236	1	0	0	0	0	1	0	0	0	17102	1087	38	1	144	1	USP11	23	47092455	Missense_Mutation	SNP	G	TCGA-HT-7475-01A-11D-2024-08		47092455	108178105	52	26655											
ATRX	546	broad.mit.edu	37	X	76813076	76813076	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chrX:76813076T>C	ENST00000373344.5	-	30	6759	c.6545A>G	c.(6544-6546)aAg>aGg	p.K2182R	ATRX_ENST00000395603.3_Missense_Mutation_p.K2144R|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	2182	Helicase C-terminal.				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)	CAGTGACTGCTTAGTTACTTG	0.333			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						61	10					0	0	0.01441	0	0	C	76813076	T	C	76813076	3	2	236	1	0	0	0	0	1	0	0	0	1206	1609	56	3	957	3	ATRX	23	76813076	Missense_Mutation	SNP	T	TCGA-HT-7475-01A-11D-2024-08	29720621	76813076	78457484	53	26656											
ITIH4	3700	broad.mit.edu	37	3	52848085	52848085	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HT-7476-01A-11D-2024-08	TCGA-HT-7476-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9627781-e55f-45ac-9c49-bdd3b0bcdc86	6dff219a-04da-4385-bcdb-17871c41e822	g.chr3:52848085G>A	ENST00000266041.4	-	23	2725	c.2629C>T	c.(2629-2631)Cag>Tag	p.Q877*	RP5-966M1.6_ENST00000468472.1_3'UTR|ITIH4_ENST00000346281.5_Nonsense_Mutation_p.Q861*|ITIH4_ENST00000406595.1_Nonsense_Mutation_p.Q847*|ITIH4_ENST00000485816.1_Nonsense_Mutation_p.Q882*	NM_002218.4	NP_002209.2	Q14624	ITIH4_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 4	877					acute-phase response|hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		TGGTAAAACTGGCCTGAGATA	0.592													9	15					0	0	0.069234	0	0	A	52848085	G	A	52848085	4	1	237	1	0	0	0	0	0	1	0	0	7950	1357	47	2	171	2	ITIH4	3	52848085	Nonsense_Mutation	SNP	G	TCGA-HT-7476-01A-11D-2024-08		52848085	145174345	1	26657											
KIAA1211	57482	broad.mit.edu	37	4	57193877	57193877	+	Silent	SNP	G	G	A			TCGA-HT-7476-01A-11D-2024-08	TCGA-HT-7476-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9627781-e55f-45ac-9c49-bdd3b0bcdc86	6dff219a-04da-4385-bcdb-17871c41e822	g.chr4:57193877G>A	ENST00000504228.1	+	9	3714	c.3609G>A	c.(3607-3609)ccG>ccA	p.P1203P	KIAA1211_ENST00000541073.1_Silent_p.P1196P|KIAA1211_ENST00000264229.6_Silent_p.P1203P			Q6ZU35	K1211_HUMAN	KIAA1211	1203										endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					TTTCCACCCCGGATGCTGCCC	0.507													53	110					0	0	0.139131	0	0	A	57193877	G	A	57193877	2	1	237	1	0	0	0	0	0	0	0	1	8257	1103	39	1		1	KIAA1211	4	57193877	Silent	SNP	G	TCGA-HT-7476-01A-11D-2024-08		57193877	133960399	2	26658											
TRPC3	7222	broad.mit.edu	37	4	122853715	122853715	+	Missense_Mutation	SNP	T	T	A			TCGA-HT-7476-01A-11D-2024-08	TCGA-HT-7476-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9627781-e55f-45ac-9c49-bdd3b0bcdc86	6dff219a-04da-4385-bcdb-17871c41e822	g.chr4:122853715T>A	ENST00000264811.5	-	1	897	c.479A>T	c.(478-480)gAc>gTc	p.D160V	TRPC3_ENST00000513531.1_Missense_Mutation_p.D160V|TRPC3_ENST00000379645.3_Missense_Mutation_p.D233V	NM_003305.2	NP_003296.1	Q13507	TRPC3_HUMAN	transient receptor potential cation channel, subfamily C, member 3	148					axon guidance|phototransduction|platelet activation	integral to plasma membrane	protein binding|store-operated calcium channel activity			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						GGGGGTGATGTCCGGCGAGAA	0.617													20	34					0	0	0.055883	0	0	A	122853715	T	A	122853715	3	1	237	1	0	0	0	0	1	0	0	0	16640	1667	58	5	2111	5	TRPC3	4	122853715	Missense_Mutation	SNP	T	TCGA-HT-7476-01A-11D-2024-08	65659838	122853715	68300561	3	26659											
FAT4	79633	broad.mit.edu	37	4	126239920	126239920	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7476-01A-11D-2024-08	TCGA-HT-7476-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9627781-e55f-45ac-9c49-bdd3b0bcdc86	6dff219a-04da-4385-bcdb-17871c41e822	g.chr4:126239920A>G	ENST00000394329.3	+	1	2367	c.2354A>G	c.(2353-2355)gAc>gGc	p.D785G		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	785	Cadherin 7.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						ACTGTATTGGACACTCAAGAC	0.448													14	100					0	0	0.105934	0	0	G	126239920	A	G	126239920	3	3	237	1	0	0	0	0	1	0	0	0	5725	275	10	3	2356	3	FAT4	4	126239920	Missense_Mutation	SNP	A	TCGA-HT-7476-01A-11D-2024-08	3386205	126239920	64914356	4	26660											
AP3B1	8546	broad.mit.edu	37	5	77473214	77473214	+	Missense_Mutation	SNP	G	G	C			TCGA-HT-7476-01A-11D-2024-08	TCGA-HT-7476-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9627781-e55f-45ac-9c49-bdd3b0bcdc86	6dff219a-04da-4385-bcdb-17871c41e822	g.chr5:77473214G>C	ENST00000255194.6	-	9	1164	c.989C>G	c.(988-990)tCt>tGt	p.S330C	AP3B1_ENST00000519295.1_Missense_Mutation_p.S281C	NM_001271769.1	NP_001258698.1	O00203	AP3B1_HUMAN	adaptor-related protein complex 3, beta 1 subunit	330					endocytosis|melanosome organization	clathrin coated vesicle membrane|Golgi apparatus|membrane coat	protein phosphatase binding|protein transporter activity			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(12)|lung(12)|prostate(1)|skin(2)|urinary_tract(1)	39		all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215)		OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36)		GCCAGCTTCAGATTTTGGTGA	0.338									Hermansky-Pudlak syndrome				22	41					0	0	0.125774	0	0	C	77473214	G	C	77473214	3	2	237	1	0	0	0	0	1	0	0	0	740	942	33	4	2371	4	AP3B1	5	77473214	Missense_Mutation	SNP	G	TCGA-HT-7476-01A-11D-2024-08		77473214	103442046	5	26661											
CDC40	51362	broad.mit.edu	37	6	110533393	110533393	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-7476-01A-11D-2024-08	TCGA-HT-7476-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9627781-e55f-45ac-9c49-bdd3b0bcdc86	6dff219a-04da-4385-bcdb-17871c41e822	g.chr6:110533393G>T	ENST00000368932.1	+	8	886	c.785G>T	c.(784-786)gGt>gTt	p.G262V	CDC40_ENST00000368930.1_Missense_Mutation_p.G262V|CDC40_ENST00000307731.1_Missense_Mutation_p.G262V			O60508	PRP17_HUMAN	cell division cycle 40	262					mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|nucleoplasm				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)	18		all_cancers(87;6.23e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488)		Epithelial(106;0.0221)|all cancers(137;0.0314)|OV - Ovarian serous cystadenocarcinoma(136;0.034)		CAGGATGTTGGTGTTAATCTA	0.378													4	74					0.00116845	0.00192929	0.021553	1	0	T	110533393	G	T	110533393	3	4	237	1	0	0	0	0	1	0	0	0	3092	1261	44	5	811	5	CDC40	6	110533393	Missense_Mutation	SNP	G	TCGA-HT-7476-01A-11D-2024-08		110533393	60581674	6	26662											
DYNC1I1	1780	broad.mit.edu	37	7	95657551	95657551	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7476-01A-11D-2024-08	TCGA-HT-7476-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9627781-e55f-45ac-9c49-bdd3b0bcdc86	6dff219a-04da-4385-bcdb-17871c41e822	g.chr7:95657551C>T	ENST00000324972.6	+	11	1278	c.1085C>T	c.(1084-1086)tCg>tTg	p.S362L	DYNC1I1_ENST00000447467.2_Missense_Mutation_p.S345L|DYNC1I1_ENST00000457059.1_Missense_Mutation_p.S345L|DYNC1I1_ENST00000537881.1_Missense_Mutation_p.S325L|DYNC1I1_ENST00000359388.4_Missense_Mutation_p.S325L|DYNC1I1_ENST00000437599.1_Missense_Mutation_p.S342L	NM_004411.4	NP_004402.1	O14576	DC1I1_HUMAN	dynein, cytoplasmic 1, intermediate chain 1	362					vesicle transport along microtubule	condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle	microtubule binding|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	54	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		STAD - Stomach adenocarcinoma(171;0.0957)			GGGACTTACTCGGGCCAGATT	0.532													47	89					0	0	0.139131	0	0	T	95657551	C	T	95657551	3	4	237	1	0	0	0	0	1	0	0	0	4868	893	31	1	1123	1	DYNC1I1	7	95657551	Missense_Mutation	SNP	C	TCGA-HT-7476-01A-11D-2024-08		95657551	63481112	7	26663											
SPAM1	6677	broad.mit.edu	37	7	123594310	123594310	+	Missense_Mutation	SNP	A	A	T			TCGA-HT-7476-01A-11D-2024-08	TCGA-HT-7476-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9627781-e55f-45ac-9c49-bdd3b0bcdc86	6dff219a-04da-4385-bcdb-17871c41e822	g.chr7:123594310A>T	ENST00000340011.5	+	3	1043	c.686A>T	c.(685-687)tAt>tTt	p.Y229F	SPAM1_ENST00000439500.1_Missense_Mutation_p.Y229F|SPAM1_ENST00000402183.2_Missense_Mutation_p.Y229F|SPAM1_ENST00000223028.7_Missense_Mutation_p.Y229F|SPAM1_ENST00000460182.1_Missense_Mutation_p.Y229F	NM_003117.4	NP_003108.2	P38567	HYALP_HUMAN	sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding)	229					binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane	anchored to membrane|plasma membrane	hyalurononglucosaminidase activity	p.Y229C(2)		breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46					Hyaluronidase(DB00070)	AACCATCACTATAAGAAACCC	0.388													36	72					0	0	0.059317	0	0	T	123594310	A	T	123594310	3	4	237	1	0	0	0	0	1	0	0	0	15042	449	16	4	688	4	SPAM1	7	123594310	Missense_Mutation	SNP	A	TCGA-HT-7476-01A-11D-2024-08	27936759	123594310	35544353	8	26664											
GDAP1	54332	broad.mit.edu	37	8	75274211	75274211	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7476-01A-11D-2024-08	TCGA-HT-7476-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9627781-e55f-45ac-9c49-bdd3b0bcdc86	6dff219a-04da-4385-bcdb-17871c41e822	g.chr8:75274211A>G	ENST00000220822.7	+	4	657	c.577A>G	c.(577-579)Aaa>Gaa	p.K193E	GDAP1_ENST00000434412.2_Missense_Mutation_p.K125E|GDAP1_ENST00000521096.1_3'UTR	NM_001040875.2|NM_018972.2	NP_001035808.1|NP_061845.2	Q8TB36	GDAP1_HUMAN	ganglioside induced differentiation associated protein 1	193	GST C-terminal.					cytoplasm				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	Breast(64;0.00769)	Myeloproliferative disorder(644;0.0122)	BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.104)|all cancers(69;0.234)			GAAACGACTTAAAGTAAGCCA	0.358													10	44					0	0	0.058154	0	0	G	75274211	A	G	75274211	3	3	237	1	0	0	0	0	1	0	0	0	6348	363	13	3	591	3	GDAP1	8	75274211	Missense_Mutation	SNP	A	TCGA-HT-7476-01A-11D-2024-08		75274211	71089811	9	26665											
MUSK	4593	broad.mit.edu	37	9	113457754	113457754	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HT-7476-01A-11D-2024-08	TCGA-HT-7476-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9627781-e55f-45ac-9c49-bdd3b0bcdc86	6dff219a-04da-4385-bcdb-17871c41e822	g.chr9:113457754delA	ENST00000416899.2	+	4	556	c.430delA	c.(430-432)acafs	p.T144fs	MUSK_ENST00000374448.4_Frame_Shift_Del_p.T144fs|MUSK_ENST00000189978.5_Frame_Shift_Del_p.T144fs|MUSK_ENST00000374439.1_Frame_Shift_Del_p.T26fs|MUSK_ENST00000374440.3_Frame_Shift_Del_p.T26fs			O15146	MUSK_HUMAN	muscle, skeletal, receptor tyrosine kinase	144	Ig-like 2.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						ACCATGTACTACAATGGGTAA	0.328													2	4	---	---	---	---						-	113457754	A	-	113457754	7	5	237	1	0	1	0	1	0	0	0	0	10037	391	14	0	444	0	MUSK	9	113457754	Frame_Shift_Del	DEL	A	TCGA-HT-7476-01A-11D-2024-08		113457754	27755677	10	26666											
MUSK	4593	broad.mit.edu	37	9	113547910	113547910	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7476-01A-11D-2024-08	TCGA-HT-7476-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9627781-e55f-45ac-9c49-bdd3b0bcdc86	6dff219a-04da-4385-bcdb-17871c41e822	g.chr9:113547910A>G	ENST00000416899.2	+	11	1792	c.1666A>G	c.(1666-1668)Aaa>Gaa	p.K556E	MUSK_ENST00000189978.5_Missense_Mutation_p.K564E|MUSK_ENST00000374438.1_Missense_Mutation_p.K80E|MUSK_ENST00000374448.4_Missense_Mutation_p.K564E			O15146	MUSK_HUMAN	muscle, skeletal, receptor tyrosine kinase	564					transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	p.K564*(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						TCTGAACCCCAAATTGCTCAG	0.483													65	112					0	0	0.139131	0	0	G	113547910	A	G	113547910	3	3	237	1	0	0	0	0	1	0	0	0	10037	131	5	3	1772	3	MUSK	9	113547910	Missense_Mutation	SNP	A	TCGA-HT-7476-01A-11D-2024-08	90156	113547910	27665521	11	26667											
KIAA1377	57562	broad.mit.edu	37	11	101857730	101857730	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7476-01A-11D-2024-08	TCGA-HT-7476-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9627781-e55f-45ac-9c49-bdd3b0bcdc86	6dff219a-04da-4385-bcdb-17871c41e822	g.chr11:101857730A>G	ENST00000263468.8	+	9	3472	c.3202A>G	c.(3202-3204)Aag>Gag	p.K1068E	KIAA1377_ENST00000537689.1_Missense_Mutation_p.K869E	NM_020802.2	NP_065853.2	Q9P2H0	K1377_HUMAN	KIAA1377	1068							protein binding			breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		TGAAGAACAGAAGATCCTAGA	0.328													22	39					0	0	0.083992	0	0	G	101857730	A	G	101857730	3	3	237	1	0	0	0	0	1	0	0	0	8269	247	9	3	3236	3	KIAA1377	11	101857730	Missense_Mutation	SNP	A	TCGA-HT-7476-01A-11D-2024-08		101857730	33148786	12	26668											
LRFN5	145581	broad.mit.edu	37	14	42356999	42356999	+	Missense_Mutation	SNP	G	G	C			TCGA-HT-7476-01A-11D-2024-08	TCGA-HT-7476-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9627781-e55f-45ac-9c49-bdd3b0bcdc86	6dff219a-04da-4385-bcdb-17871c41e822	g.chr14:42356999G>C	ENST00000554171.1	+	5	3603	c.1171G>C	c.(1171-1173)Gat>Cat	p.D391H	LRFN5_ENST00000298119.4_Missense_Mutation_p.D391H|LRFN5_ENST00000554120.1_Missense_Mutation_p.D391H			Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	391						integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		CCATGAGCCTGATCCTGGTTC	0.388										HNSCC(30;0.082)			12	56					0	0	0.080935	0	0	C	42356999	G	C	42356999	3	2	237	1	0	0	0	0	1	0	0	0	8986	1290	45	5	1173	5	LRFN5	14	42356999	Missense_Mutation	SNP	G	TCGA-HT-7476-01A-11D-2024-08		42356999	64992541	13	26669											
IDH2	3418	broad.mit.edu	37	15	90631838	90631838	+	Missense_Mutation	SNP	C	C	T	rs121913503		TCGA-HT-7476-01A-11D-2024-08	TCGA-HT-7476-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9627781-e55f-45ac-9c49-bdd3b0bcdc86	6dff219a-04da-4385-bcdb-17871c41e822	g.chr15:90631838C>T	ENST00000330062.3	-	4	628	c.515G>A	c.(514-516)aGg>aAg	p.R172K	IDH2_ENST00000559482.1_Intron|IDH2_ENST00000540499.2_Missense_Mutation_p.R120K|IDH2_ENST00000539790.1_Missense_Mutation_p.R42K	NM_002168.2	NP_002159.2	P48735	IDHP_HUMAN	isocitrate dehydrogenase 2 (NADP+), mitochondrial	172					2-oxoglutarate metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding	p.R172K(116)|p.R172M(21)|p.R172N(1)		biliary_tract(11)|bone(19)|central_nervous_system(107)|endometrium(1)|haematopoietic_and_lymphoid_tissue(953)|large_intestine(8)|lung(5)|skin(5)	1109	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.106)			ATGGGCGTGCCTGCCAATGGT	0.632			M		GBM								27	40					0	0	0.108266	0	0	T	90631838	C	T	90631838	3	4	237	1	0	0	0	0	1	0	0	0	7539	681	24	2	875	2	IDH2	15	90631838	Missense_Mutation	SNP	C	TCGA-HT-7476-01A-11D-2024-08		90631838	11899554	14	26670											
UNC45A	55898	broad.mit.edu	37	15	91491977	91491977	+	Missense_Mutation	SNP	G	G	C			TCGA-HT-7476-01A-11D-2024-08	TCGA-HT-7476-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9627781-e55f-45ac-9c49-bdd3b0bcdc86	6dff219a-04da-4385-bcdb-17871c41e822	g.chr15:91491977G>C	ENST00000394275.2	+	16	2621	c.1786G>C	c.(1786-1788)Gag>Cag	p.E596Q	UNC45A_ENST00000418476.2_Missense_Mutation_p.E611Q	NM_001039675.1	NP_001034764.1	Q9H3U1	UN45A_HUMAN	unc-45 homolog A (C. elegans)	611					cell differentiation|muscle organ development	nucleus|perinuclear region of cytoplasm	protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)			CAAGATGGTGGAGCTGGCCAA	0.627													3	11					0	0	0.009096	0	0	C	91491977	G	C	91491977	3	2	237	1	0	0	0	0	1	0	0	0	17048	1175	41	5	1881	5	UNC45A	15	91491977	Missense_Mutation	SNP	G	TCGA-HT-7476-01A-11D-2024-08	860139	91491977	11039415	15	26671											
TP53	7157	broad.mit.edu	37	17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	rs121913343		TCGA-HT-7476-01A-11D-2024-08	TCGA-HT-7476-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9627781-e55f-45ac-9c49-bdd3b0bcdc86	6dff219a-04da-4385-bcdb-17871c41e822	g.chr17:7577121G>A	ENST00000420246.2	-	8	949	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron|TP53_ENST00000269305.4_Missense_Mutation_p.R273C|TP53_ENST00000445888.2_Missense_Mutation_p.R273C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	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).		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.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			16	10					0	0	0.146539	0	0	A	7577121	G	A	7577121	3	1	237	1	0	0	0	0	1	0	0	0	16442	1087	38	1	469	1	TP53	17	7577121	Missense_Mutation	SNP	G	TCGA-HT-7476-01A-11D-2024-08		7577121	73618089	16	26672											
MYH2	4620	broad.mit.edu	37	17	10440777	10440777	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7476-01A-11D-2024-08	TCGA-HT-7476-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9627781-e55f-45ac-9c49-bdd3b0bcdc86	6dff219a-04da-4385-bcdb-17871c41e822	g.chr17:10440777T>C	ENST00000245503.5	-	16	2054	c.1670A>G	c.(1669-1671)gAc>gGc	p.D557G	MYH2_ENST00000532183.2_Missense_Mutation_p.D557G|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.D557G	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	557	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						CAGGTGCTGGTCATACAGCTT	0.527													11	116					0	0	0.080935	0	0	C	10440777	T	C	10440777	3	2	237	1	0	0	0	0	1	0	0	0	10083	1667	58	3	4255	3	MYH2	17	10440777	Missense_Mutation	SNP	T	TCGA-HT-7476-01A-11D-2024-08	2863656	10440777	70754433	17	26673											
ELP2	55250	broad.mit.edu	37	18	33739707	33739707	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7476-01A-11D-2024-08	TCGA-HT-7476-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9627781-e55f-45ac-9c49-bdd3b0bcdc86	6dff219a-04da-4385-bcdb-17871c41e822	g.chr18:33739707C>T	ENST00000358232.6	+	15	1607	c.1544C>T	c.(1543-1545)gCt>gTt	p.A515V	ELP2_ENST00000423854.2_Missense_Mutation_p.A445V|ELP2_ENST00000542824.1_Missense_Mutation_p.A445V|ELP2_ENST00000542050.1_3'UTR|ELP2_ENST00000351393.6_Missense_Mutation_p.A489V|ELP2_ENST00000442325.2_Missense_Mutation_p.A580V|ELP2_ENST00000350494.6_Missense_Mutation_p.A510V	NM_018255.2	NP_060725.1	Q6IA86	ELP2_HUMAN	elongator acetyltransferase complex subunit 2	515					regulation of transcription from RNA polymerase II promoter	Golgi apparatus|transcription elongation factor complex				NS(1)|breast(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|urinary_tract(2)	30						GGAGATATAGCTTCTCAGCCT	0.398													6	72					0	0	0.02938	0	0	T	33739707	C	T	33739707	3	4	237	1	0	0	0	0	1	0	0	0	5108	797	28	2	1602	2	ELP2	18	33739707	Missense_Mutation	SNP	C	TCGA-HT-7476-01A-11D-2024-08		33739707	44337541	18	26674											
FLRT3	23767	broad.mit.edu	37	20	14307457	14307457	+	Silent	SNP	C	C	T			TCGA-HT-7476-01A-11D-2024-08	TCGA-HT-7476-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9627781-e55f-45ac-9c49-bdd3b0bcdc86	6dff219a-04da-4385-bcdb-17871c41e822	g.chr20:14307457C>T	ENST00000378053.3	-	2	952	c.696G>A	c.(694-696)ctG>ctA	p.L232L	FLRT3_ENST00000341420.4_Silent_p.L232L|MACROD2_ENST00000310348.4_Intron|MACROD2_ENST00000217246.4_Intron	NM_013281.3	NP_037413.1	Q9NZU0	FLRT3_HUMAN	fibronectin leucine rich transmembrane protein 3	232					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			breast(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Colorectal(1;0.0464)	COAD - Colon adenocarcinoma(2;0.129)	Colorectal(1;0.0393)		AATTCCGCACCAGGGACAGCT	0.453													18	46					0	0	0.0333	0	0	T	14307457	C	T	14307457	2	4	237	1	0	0	0	0	0	0	0	1	5973	581	21	2		2	FLRT3	20	14307457	Silent	SNP	C	TCGA-HT-7476-01A-11D-2024-08		14307457	48718063	19	26675											
TPTE	7179	broad.mit.edu	37	21	10973723	10973723	+	Splice_Site	SNP	C	C	G			TCGA-HT-7476-01A-11D-2024-08	TCGA-HT-7476-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9627781-e55f-45ac-9c49-bdd3b0bcdc86	6dff219a-04da-4385-bcdb-17871c41e822	g.chr21:10973723C>G	ENST00000298232.7	-	4	378	c.11G>C	c.(10-12)aGt>aCt	p.S4T	TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000342420.5_Splice_Site_p.S4T|TPTE_ENST00000361285.4_Splice_Site_p.S4T	NM_199259.2	NP_954868	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	4					signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			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)		CATAACTCACCTTTCATTCAT	0.383													12	84					0	0	0.0333	0	0	G	10973723	C	G	10973723	5	3	237	1	0	0	0	0	0	0	1	0	16491	695	24	4	1728	4	TPTE	21	10973723	Splice_Site	SNP	C	TCGA-HT-7476-01A-11D-2024-08		10973723	37156172	20	26676											
SSX1	6756	broad.mit.edu	37	X	48125816	48125816	+	Silent	SNP	C	C	T			TCGA-HT-7476-01A-11D-2024-08	TCGA-HT-7476-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9627781-e55f-45ac-9c49-bdd3b0bcdc86	6dff219a-04da-4385-bcdb-17871c41e822	g.chrX:48125816C>T	ENST00000376919.3	+	7	697	c.561C>T	c.(559-561)gaC>gaT	p.D187D		NM_001278691.1|NM_005635.2	NP_001265620.1|NP_005626.1	Q16384	SSX1_HUMAN	synovial sarcoma, X breakpoint 1	187					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|transcription corepressor activity		SS18/SSX1(1169)|SS18L1/SSX1(2)	endometrium(2)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	9						AGGAAGATGACGAGTAACTCC	0.488			T	SS18	synovial sarcoma								7	97					0	0	0.02938	0	0	T	48125816	C	T	48125816	2	4	237	1	0	0	0	0	0	0	0	1	15259	535	19	1		1	SSX1	23	48125816	Silent	SNP	C	TCGA-HT-7476-01A-11D-2024-08		48125816	107144744	21	26677											
ATRX	546	broad.mit.edu	37	X	76939347	76939348	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-HT-7476-01A-11D-2024-08	TCGA-HT-7476-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9627781-e55f-45ac-9c49-bdd3b0bcdc86	6dff219a-04da-4385-bcdb-17871c41e822	g.chrX:76939347_76939348delTT	ENST00000373344.5	-	9	1614_1615	c.1400_1401delAA	c.(1399-1401)aaafs	p.K467fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.K429fs	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	467					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)	TATCTACCTGTTTTCTTGAAAG	0.356			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						103	67	---	---	---	---						-	76939348	TT	-	76939347	7	5	237	1	0	1	0	1	0	0	0	0	1206	1722	60	0	6185	0	ATRX	23	76939347	Frame_Shift_Del	DEL	TT	TCGA-HT-7476-01A-11D-2024-08	28813531	76939347	78331213	22	26678											
COX7B	1349	broad.mit.edu	37	X	77155051	77155051	+	Translation_Start_Site	SNP	A	A	T			TCGA-HT-7476-01A-11D-2024-08	TCGA-HT-7476-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9627781-e55f-45ac-9c49-bdd3b0bcdc86	6dff219a-04da-4385-bcdb-17871c41e822	g.chrX:77155051A>T	ENST00000481445.1	+	1	117	c.1A>T	c.(1-3)Atg>Ttg	p.M1L	COX7B_ENST00000475465.1_3'UTR	NM_001866.2	NP_001857.1	P24311	COX7B_HUMAN	cytochrome c oxidase subunit VIIb	1					respiratory electron transport chain	integral to membrane|mitochondrial respiratory chain	cytochrome-c oxidase activity			endometrium(2)	2						CACCTTCACGATGTTTCCCTT	0.443													10	3					0	0	0.069234	0	0	T	77155051	A	T	77155051	1	4	237	1	0	0	0	0	0	0	0	0	3805	333	12	4		4	COX7B	23	77155051	Translation_Start_Site	SNP	A	TCGA-HT-7476-01A-11D-2024-08	215704	77155051	78115509	23	26679											
PCDH19	57526	broad.mit.edu	37	X	99662028	99662028	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7476-01A-11D-2024-08	TCGA-HT-7476-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9627781-e55f-45ac-9c49-bdd3b0bcdc86	6dff219a-04da-4385-bcdb-17871c41e822	g.chrX:99662028T>C	ENST00000373034.4	-	1	3243	c.1568A>G	c.(1567-1569)cAc>cGc	p.H523R	PCDH19_ENST00000420881.2_Missense_Mutation_p.H523R|PCDH19_ENST00000255531.7_Missense_Mutation_p.H523R	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	523	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						GGTCTGCTCGTGGTTAAAGGA	0.582													42	26					0	0	0.117977	0	0	C	99662028	T	C	99662028	3	2	237	1	0	0	0	0	1	0	0	0	11561	1696	59	3	1902	3	PCDH19	23	99662028	Missense_Mutation	SNP	T	TCGA-HT-7476-01A-11D-2024-08	22506977	99662028	55608532	24	26680											
CROCC	9696	broad.mit.edu	37	1	17264170	17264170	+	Missense_Mutation	SNP	G	G	C	rs141704732		TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr1:17264170G>C	ENST00000375541.5	+	10	1297	c.1228G>C	c.(1228-1230)Gag>Cag	p.E410Q	CROCC_ENST00000467938.1_3'UTR	NM_014675.3	NP_055490.3	Q5TZA2	CROCC_HUMAN	ciliary rootlet coiled-coil, rootletin	410					cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity			breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		GAAGCGTCTTGAGAAGCAGAA	0.572													5	30					0	0	1	0	0	C	17264170	G	C	17264170	3	2	238	1	0	0	0	0	1	0	0	0	3916	1291	45	5	1266	5	CROCC	1	17264170	Missense_Mutation	SNP	G	TCGA-HT-7477-01B-11D-A289-08		17264170	231986451	1	26681											
FCRL5	83416	broad.mit.edu	37	1	157514077	157514077	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr1:157514077G>T	ENST00000361835.3	-	5	976	c.819C>A	c.(817-819)agC>agA	p.S273R	FCRL5_ENST00000368189.3_Missense_Mutation_p.S273R|FCRL5_ENST00000368191.3_Missense_Mutation_p.S188R|FCRL5_ENST00000356953.4_Missense_Mutation_p.S273R|FCRL5_ENST00000368190.3_Missense_Mutation_p.S273R	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	273						integral to membrane|plasma membrane	receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				AGGATCTCGGGCTGTCAGATA	0.512													126	145					1.13993e-56	1.24223e-56	1	1	0	T	157514077	G	T	157514077	3	4	238	1	0	0	0	0	1	0	0	0	5831	1194	42	5	2166	5	FCRL5	1	157514077	Missense_Mutation	SNP	G	TCGA-HT-7477-01B-11D-A289-08	140249907	157514077	91736544	2	26682											
PTGS2	5743	broad.mit.edu	37	1	186643728	186643728	+	Silent	SNP	A	A	G			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr1:186643728A>G	ENST00000367468.5	-	10	1708	c.1572T>C	c.(1570-1572)gtT>gtC	p.V524V	PTGS2_ENST00000490885.2_5'UTR	NM_000963.2	NP_000954.1	P35354	PGH2_HUMAN	prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)	524					cellular component movement|cyclooxygenase pathway|hormone biosynthetic process|positive regulation of brown fat cell differentiation|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of fever generation|positive regulation of fibroblast growth factor production|positive regulation of nitric oxide biosynthetic process|positive regulation of platelet-derived growth factor production|positive regulation of prostaglandin biosynthetic process|positive regulation of transforming growth factor-beta production|positive regulation vascular endothelial growth factor production|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|microsome|neuron projection|nucleus	enzyme binding|heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27					Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Carprofen(DB00821)|Celecoxib(DB00482)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Epoprostenol(DB01240)|Etodolac(DB00749)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Valdecoxib(DB00580)	GAGAACATATAACATTACCCA	0.458													21	105					0	0	1	0	0	G	186643728	A	G	186643728	2	3	238	1	0	0	0	0	0	0	0	1	12806	349	13	3		3	PTGS2	1	186643728	Silent	SNP	A	TCGA-HT-7477-01B-11D-A289-08	29129651	186643728	62606893	3	26683											
LAD1	3898	broad.mit.edu	37	1	201352455	201352455	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr1:201352455G>A	ENST00000391967.2	-	6	1539	c.1238C>T	c.(1237-1239)aCg>aTg	p.T413M	LAD1_ENST00000367313.3_Missense_Mutation_p.T427M|LAD1_ENST00000488842.1_5'UTR	NM_005558.3	NP_005549.2	O00515	LAD1_HUMAN	ladinin 1	413						basement membrane	structural molecule activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|prostate(2)|skin(2)	19						CCGTATGGCCGTGTGGTATCT	0.597													64	181					0	0	1	0	0	A	201352455	G	A	201352455	3	1	238	1	0	0	0	0	1	0	0	0	8638	1145	40	1	335	1	LAD1	1	201352455	Missense_Mutation	SNP	G	TCGA-HT-7477-01B-11D-A289-08	14708727	201352455	47898166	4	26684											
RYR2	6262	broad.mit.edu	37	1	237804274	237804274	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr1:237804274T>C	ENST00000366574.2	+	47	7510	c.7193T>C	c.(7192-7194)cTc>cCc	p.L2398P	RYR2_ENST00000360064.6_Missense_Mutation_p.L2396P|RYR2_ENST00000542537.1_Missense_Mutation_p.L2382P	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2398	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TTGATTGACCTCTTGGGACGC	0.453													16	13					0	0	1	0	0	C	237804274	T	C	237804274	3	2	238	1	0	0	0	0	1	0	0	0	13821	1551	54	3	7379	3	RYR2	1	237804274	Missense_Mutation	SNP	T	TCGA-HT-7477-01B-11D-A289-08	36451819	237804274	11446347	5	26685											
C2orf68	388969	broad.mit.edu	37	2	85839085	85839085	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr2:85839085C>G	ENST00000306336.5	-	1	67	c.23G>C	c.(22-24)cGg>cCg	p.R8P	USP39_ENST00000459775.1_Intron|C2orf68_ENST00000409734.3_Missense_Mutation_p.R8P	NM_001013649.3	NP_001013671.2	Q2NKX9	CB068_HUMAN	chromosome 2 open reading frame 68	8										breast(1)|central_nervous_system(1)|endometrium(1)	3						GTGCCCCGGCCGGGGATGCGG	0.731													6	18					0	0	1	0	0	G	85839085	C	G	85839085	3	3	238	1	0	0	0	0	1	0	0	0	2201	652	23	5	493	5	C2orf68	2	85839085	Missense_Mutation	SNP	C	TCGA-HT-7477-01B-11D-A289-08		85839085	157360288	6	26686											
GPR45	11250	broad.mit.edu	37	2	105858985	105858985	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr2:105858985A>G	ENST00000258456.1	+	1	786	c.670A>G	c.(670-672)Aag>Gag	p.K224E		NM_007227.3	NP_009158.3	Q9Y5Y3	GPR45_HUMAN	G protein-coupled receptor 45	224						integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	28						CACGGTCCGCAAGAACGCCGT	0.672													23	62					0	0	1	0	0	G	105858985	A	G	105858985	3	3	238	1	0	0	0	0	1	0	0	0	6736	131	5	3	672	3	GPR45	2	105858985	Missense_Mutation	SNP	A	TCGA-HT-7477-01B-11D-A289-08	20019900	105858985	137340388	7	26687											
POTEE	445582	broad.mit.edu	37	2	131981311	131981311	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr2:131981311G>A	ENST00000358087.5	+	2	716	c.664G>A	c.(664-666)Gag>Aag	p.E222K	POTEE_ENST00000356920.5_Intron|PLEKHB2_ENST00000303908.3_Intron|PLEKHB2_ENST00000404460.1_Intron			Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	212							ATP binding										ATATCAGCATGAGGTGGGTTT	0.358													6	29					0	0	1	0	0	A	131981311	G	A	131981311	3	1	238	1	0	0	0	0	1	0	0	0	12311	1305	45	2		2	POTEE	2	131981311	Missense_Mutation	SNP	G	TCGA-HT-7477-01B-11D-A289-08	26122326	131981311	111218062	8	26688											
TTN	7273	broad.mit.edu	37	2	179588855	179588855	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr2:179588855G>A	ENST00000589042.1	-	73	21355	c.21131C>T	c.(21130-21132)cCc>cTc	p.P7044L	TTN-AS1_ENST00000585451.1_RNA|RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.P6727L|TTN_ENST00000342992.6_Missense_Mutation_p.P5800L|TTN_ENST00000342175.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	6727	Ig-like 52.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGTGAAAGAGGGAGGAACTGC	0.423													12	8					0	0	1	0	0	A	179588855	G	A	179588855	3	1	238	1	0	0	0	0	1	0	0	0	16797	1232	43	2	83558	2	TTN	2	179588855	Missense_Mutation	SNP	G	TCGA-HT-7477-01B-11D-A289-08	47607544	179588855	63610518	9	26689											
DNAH7	56171	broad.mit.edu	37	2	196749379	196749379	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr2:196749379G>A	ENST00000312428.6	-	35	5793	c.5693C>T	c.(5692-5694)aCa>aTa	p.T1898I		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1898					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						CTTTGAGGATGTTTGCTCAGT	0.358													13	35					0	0	1	0	0	A	196749379	G	A	196749379	3	1	238	1	0	0	0	0	1	0	0	0	4633	1377	48	2	6505	2	DNAH7	2	196749379	Missense_Mutation	SNP	G	TCGA-HT-7477-01B-11D-A289-08	17160524	196749379	46449994	10	26690											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	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	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								25	22					0	0	1	0	0	T	209113112	C	T	209113112	3	4	238	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HT-7477-01B-11D-A289-08	12363733	209113112	34086261	11	26691											
ANKMY1	51281	broad.mit.edu	37	2	241468460	241468460	+	Missense_Mutation	SNP	T	T	G			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr2:241468460T>G	ENST00000391987.1	-	5	1046	c.680A>C	c.(679-681)aAg>aCg	p.K227T	ANKMY1_ENST00000401804.1_Missense_Mutation_p.K316T|ANKMY1_ENST00000403283.1_Intron|ANKMY1_ENST00000361678.4_Intron|ANKMY1_ENST00000462004.1_Intron|ANKMY1_ENST00000536462.1_Intron|ANKMY1_ENST00000373320.4_Intron|ANKMY1_ENST00000272972.3_Missense_Mutation_p.K227T|ANKMY1_ENST00000405523.3_Intron|ANKMY1_ENST00000373318.2_Intron|ANKMY1_ENST00000406958.1_Intron|ANKMY1_ENST00000405002.1_Intron	NM_001282771.1	NP_001269700.1	Q9P2S6	ANKY1_HUMAN	ankyrin repeat and MYND domain containing 1	227							zinc ion binding			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	30		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476)		TCACCTGAACTTGTAAGTTTG	0.522													26	117					0	0	1	0	0	G	241468460	T	G	241468460	3	3	238	1	0	0	0	0	1	0	0	0	630	1609	56	5	2201	5	ANKMY1	2	241468460	Missense_Mutation	SNP	T	TCGA-HT-7477-01B-11D-A289-08	32355348	241468460	1730913	12	26692											
NBEAL2	23218	broad.mit.edu	37	3	47038035	47038035	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr3:47038035T>C	ENST00000450053.3	+	16	2605	c.2426T>C	c.(2425-2427)tTt>tCt	p.F809S	NBEAL2_ENST00000292309.5_Missense_Mutation_p.F809S|NBEAL2_ENST00000383740.2_5'UTR	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	809							binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		GTGGCCATCTTTCACGAAGCC	0.657													6	10					0	0	1	0	0	C	47038035	T	C	47038035	3	2	238	1	0	0	0	0	1	0	0	0	10237	1841	64	3	2488	3	NBEAL2	3	47038035	Missense_Mutation	SNP	T	TCGA-HT-7477-01B-11D-A289-08		47038035	150984395	13	26693											
SEMA3B	7869	broad.mit.edu	37	3	50311108	50311108	+	RNA	SNP	A	A	G			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr3:50311108A>G	ENST00000418948.1	+	0	1156							Q13214	SEM3B_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3B						axon guidance|cell-cell signaling	endoplasmic reticulum|extracellular region|membrane	receptor activity			central_nervous_system(2)|kidney(1)|lung(2)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		GGGGTTGGGGAGGGGGGCAGC	0.701											OREG0015583	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	56					0	0	1	0	0	G	50311108	A	G	50311108	1	3	238	0	1	0	0	0	0	0	0	0	14079	319	11	3		3	SEMA3B	3	50311108	RNA	SNP	A	TCGA-HT-7477-01B-11D-A289-08	3273073	50311108	147711322	14	26694											
P2RY12	64805	broad.mit.edu	37	3	151056104	151056104	+	Missense_Mutation	SNP	A	A	T			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr3:151056104A>T	ENST00000302632.3	-	3	829	c.530T>A	c.(529-531)tTc>tAc	p.F177Y	MED12L_ENST00000273432.4_Intron|MED12L_ENST00000474524.1_Intron|MED12L_ENST00000491549.1_Intron	NM_022788.4|NM_176876.2	NP_073625.1|NP_795345.1	Q9H244	P2Y12_HUMAN	purinergic receptor P2Y, G-protein coupled, 12	177					platelet activation	integral to membrane|plasma membrane	guanyl-nucleotide exchange factor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)	17			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		Clopidogrel(DB00758)|Epoprostenol(DB01240)|Ticlopidine(DB00208)|Treprostinil(DB00374)	TGATTTAAGGAAAGAGCATTT	0.368													18	49					0	0	1	0	0	T	151056104	A	T	151056104	3	4	238	1	0	0	0	0	1	0	0	0	11396	246	9	5	502	5	P2RY12	3	151056104	Missense_Mutation	SNP	A	TCGA-HT-7477-01B-11D-A289-08	100744996	151056104	46966326	15	26695											
RGS12	6002	broad.mit.edu	37	4	3318009	3318009	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr4:3318009G>A	ENST00000336727.3	+	2	1016	c.112G>A	c.(112-114)Gga>Aga	p.G38R	RGS12_ENST00000543385.1_Missense_Mutation_p.G38R|RGS12_ENST00000344733.5_Missense_Mutation_p.G38R|RGS12_ENST00000382788.3_Missense_Mutation_p.G38R	NM_002926.3	NP_002917.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12	38	PDZ.					condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CACGCTTTCGGGACAGGCACC	0.637													18	170					0	0	1	0	0	A	3318009	G	A	3318009	3	1	238	1	0	0	0	0	1	0	0	0	13345	1233	43	2	114	2	RGS12	4	3318009	Missense_Mutation	SNP	G	TCGA-HT-7477-01B-11D-A289-08		3318009	187836267	16	26696											
FRYL	285527	broad.mit.edu	37	4	48536663	48536663	+	Silent	SNP	G	G	A			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr4:48536663G>A	ENST00000537810.1	-	49	7208	c.6604C>T	c.(6604-6606)Cta>Tta	p.L2202L	FRYL_ENST00000507873.2_5'UTR|FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000358350.4_Silent_p.L2202L|FRYL_ENST00000503238.1_Silent_p.L2202L			O94915	FRYL_HUMAN	FRY-like	2202					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						ATAATCTGTAGTAATGATTGC	0.313													34	15					0	0	1	0	0	A	48536663	G	A	48536663	2	1	238	1	0	0	0	0	0	0	0	1	6099	1020	36	2		2	FRYL	4	48536663	Silent	SNP	G	TCGA-HT-7477-01B-11D-A289-08	45218654	48536663	142617613	17	26697											
SRP72	6731	broad.mit.edu	37	4	57340270	57340270	+	Silent	SNP	C	C	T			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr4:57340270C>T	ENST00000342756.5	+	4	1126	c.405C>T	c.(403-405)ctC>ctT	p.L135L	SRP72_ENST00000510663.1_Silent_p.L135L|SRP72_ENST00000504757.1_Silent_p.L135L	NM_006947.3	NP_008878.3	O76094	SRP72_HUMAN	signal recognition particle 72kDa	135					response to drug|SRP-dependent cotranslational protein targeting to membrane	cytosol|nucleolus|plasma membrane|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding|signal recognition particle binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(7)|ovary(2)	22	Glioma(25;0.08)|all_neural(26;0.101)					ATAGAGATCTCGTCCGAAACT	0.378													9	205					0	0	1	0	0	T	57340270	C	T	57340270	2	4	238	1	0	0	0	0	0	0	0	1	15213	871	31	1		1	SRP72	4	57340270	Silent	SNP	C	TCGA-HT-7477-01B-11D-A289-08	8803607	57340270	133814006	18	26698											
C4orf21	55345	broad.mit.edu	37	4	113475127	113475127	+	Missense_Mutation	SNP	C	C	A			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr4:113475127C>A	ENST00000505019.1	-	22	5335	c.5210G>T	c.(5209-5211)gGc>gTc	p.G1737V		NM_018392.4	NP_060862.3	Q86YA3	CD021_HUMAN	chromosome 4 open reading frame 21	0										breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		ATTTTCTGAGCCAGCATGCAA	0.313													13	116					1.5739e-10	1.59263e-10	1	1	0	A	113475127	C	A	113475127	3	1	238	1	0	0	0	0	1	0	0	0	2269	739	26	5	1132	5	C4orf21	4	113475127	Missense_Mutation	SNP	C	TCGA-HT-7477-01B-11D-A289-08	56134857	113475127	77679149	19	26699											
BBS12	166379	broad.mit.edu	37	4	123664898	123664898	+	Silent	SNP	A	A	G			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr4:123664898A>G	ENST00000542236.1	+	3	2232	c.1851A>G	c.(1849-1851)acA>acG	p.T617T	BBS12_ENST00000314218.3_Silent_p.T617T	NM_001178007.1	NP_001171478.1	Q6ZW61	BBS12_HUMAN	Bardet-Biedl syndrome 12	617					cellular protein metabolic process	cilium	ATP binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|prostate(4)	21						AAGCCAGCACATACATTCAAC	0.363									Bardet-Biedl syndrome				12	40					0	0	1	0	0	G	123664898	A	G	123664898	2	3	238	1	0	0	0	0	0	0	0	1	1335	204	8	3		3	BBS12	4	123664898	Silent	SNP	A	TCGA-HT-7477-01B-11D-A289-08	10189771	123664898	67489378	20	26700											
NR3C2	4306	broad.mit.edu	37	4	149075976	149075976	+	Silent	SNP	T	T	G			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr4:149075976T>G	ENST00000355292.3	-	5	2465	c.2103A>C	c.(2101-2103)ccA>ccC	p.P701P	NR3C2_ENST00000512865.1_Intron|NR3C2_ENST00000358102.3_Silent_p.P697P|NR3C2_ENST00000503313.1_5'UTR|NR3C2_ENST00000511528.1_Silent_p.P701P|RP11-76G10.1_ENST00000514843.1_RNA|NR3C2_ENST00000344721.4_Silent_p.P697P			P08235	MCR_HUMAN	nuclear receptor subfamily 3, group C, member 2	697	Hinge.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	endoplasmic reticulum membrane|nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421)	ggggtgggggtgggggtgggg	0.527													8	14					0	0	1	0	0	G	149075976	T	G	149075976	2	3	238	1	0	0	0	0	0	0	0	1	10679	1683	59	5		5	NR3C2	4	149075976	Silent	SNP	T	TCGA-HT-7477-01B-11D-A289-08	25411078	149075976	42078300	21	26701											
TRIML2	205860	broad.mit.edu	37	4	189018488	189018488	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr4:189018488A>G	ENST00000512729.1	-	5	858	c.484T>C	c.(484-486)Tct>Cct	p.S162P	TRIML2_ENST00000326754.3_Missense_Mutation_p.S187P	NM_173553.1	NP_775824.1	Q8N7C3	TRIMM_HUMAN	tripartite motif family-like 2	162							ligase activity			central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1)	39		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)		CTTTCTAAAGAGTATTTTGCA	0.383													41	57					0	0	1	0	0	G	189018488	A	G	189018488	3	3	238	1	0	0	0	0	1	0	0	0	16612	304	11	3	691	3	TRIML2	4	189018488	Missense_Mutation	SNP	A	TCGA-HT-7477-01B-11D-A289-08	39942512	189018488	2135788	22	26702											
CDH9	1007	broad.mit.edu	37	5	26881636	26881636	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr5:26881636T>C	ENST00000231021.4	-	12	2151	c.1979A>G	c.(1978-1980)aAc>aGc	p.N660S		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	660					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						GCCTTCATCGTTGTAGGTCAC	0.428													36	120					0	0	1	0	0	C	26881636	T	C	26881636	3	2	238	1	0	0	0	0	1	0	0	0	3139	1725	60	3	394	3	CDH9	5	26881636	Missense_Mutation	SNP	T	TCGA-HT-7477-01B-11D-A289-08		26881636	154033624	23	26703											
EGFLAM	133584	broad.mit.edu	37	5	38338820	38338820	+	Silent	SNP	C	C	T	rs142461042		TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr5:38338820C>T	ENST00000322350.5	+	3	574	c.228C>T	c.(226-228)ggC>ggT	p.G76G	EGFLAM_ENST00000354891.3_Silent_p.G76G	NM_152403.3	NP_689616.2	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	76	Fibronectin type-III 1.					cell junction|proteinaceous extracellular matrix|synapse				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					CTGAGGTTGGCGCAGATAAAT	0.532													24	25					0	0	1	0	0	T	38338820	C	T	38338820	2	4	238	1	0	0	0	0	0	0	0	1	4992	755	27	1		1	EGFLAM	5	38338820	Silent	SNP	C	TCGA-HT-7477-01B-11D-A289-08	11457184	38338820	142576440	24	26704											
CDKL3	51265	broad.mit.edu	37	5	133695594	133695594	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr5:133695594delA	ENST00000521118.1	-	3	468	c.354delT	c.(352-354)agtfs	p.S118fs	CDKL3_ENST00000609383.1_Intron|CTD-2410N18.4_ENST00000518409.1_RNA|CDKL3_ENST00000536186.1_Intron|CDKL3_ENST00000435240.2_Intron|CDKL3_ENST00000522501.1_Intron|CDKL3_ENST00000435211.1_Frame_Shift_Del_p.S118fs|CDKL3_ENST00000523054.1_5'UTR|CDKL3_ENST00000265334.4_Frame_Shift_Del_p.S118fs|CDKL3_ENST00000609654.1_Intron|CDKL3_ENST00000521755.1_Intron|CDKL3_ENST00000523832.1_Frame_Shift_Del_p.S118fs			Q8IVW4	CDKL3_HUMAN	cyclin-dependent kinase-like 3	118	Protein kinase.					cytoplasm	ATP binding|cyclin-dependent protein kinase activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(3)	11			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TTACATTATTACTGTGAAGAT	0.338													2	4	---	---	---	---						-	133695594	A	-	133695594	7	5	238	1	0	1	0	1	0	0	0	0	3177	388	14	0	1472	0	CDKL3	5	133695594	Frame_Shift_Del	DEL	A	TCGA-HT-7477-01B-11D-A289-08	95356774	133695594	47219666	25	26705											
SLC26A2	1836	broad.mit.edu	37	5	149357883	149357883	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr5:149357883G>A	ENST00000286298.4	+	2	936	c.668G>A	c.(667-669)aGc>aAc	p.S223N		NM_000112.3	NP_000103.2	P50443	S26A2_HUMAN	solute carrier family 26 (anion exchanger), member 2	223						integral to plasma membrane|membrane fraction	secondary active sulfate transmembrane transporter activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(1)|prostate(2)|stomach(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			ATGGTTGGCAGCACTGTAACC	0.353													44	37					0	0	1	0	0	A	149357883	G	A	149357883	3	1	238	1	0	0	0	0	1	0	0	0	14572	971	34	2	670	2	SLC26A2	5	149357883	Missense_Mutation	SNP	G	TCGA-HT-7477-01B-11D-A289-08	15662289	149357883	31557377	26	26706											
PGK2	5232	broad.mit.edu	37	6	49754106	49754106	+	Silent	SNP	G	G	A			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr6:49754106G>A	ENST00000304801.3	-	1	947	c.795C>T	c.(793-795)atC>atT	p.I265I		NM_138733.4	NP_620061.2	P07205	PGK2_HUMAN	phosphoglycerate kinase 2	265					glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity			autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	47	Lung NSC(77;0.0402)					TATCTTTAACGATCTTGGCTC	0.418													26	143					0	0	1	0	0	A	49754106	G	A	49754106	2	1	238	1	0	0	0	0	0	0	0	1	11839	1048	37	1		1	PGK2	6	49754106	Silent	SNP	G	TCGA-HT-7477-01B-11D-A289-08		49754106	121360961	27	26707											
RIMS1	22999	broad.mit.edu	37	6	72967911	72967911	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr6:72967911C>T	ENST00000264839.7	+	17	2854	c.2854C>T	c.(2854-2856)Cgt>Tgt	p.R952C	RIMS1_ENST00000517960.1_Missense_Mutation_p.R951C|RIMS1_ENST00000518273.1_Missense_Mutation_p.R952C|RIMS1_ENST00000348717.5_Missense_Mutation_p.R951C|RIMS1_ENST00000517827.1_Missense_Mutation_p.R411C|RIMS1_ENST00000401910.3_Missense_Mutation_p.R425C|RIMS1_ENST00000522291.1_Missense_Mutation_p.R951C|RIMS1_ENST00000521978.1_Missense_Mutation_p.R952C|RIMS1_ENST00000523963.1_Missense_Mutation_p.R426C|RIMS1_ENST00000425662.2_Missense_Mutation_p.R345C|RIMS1_ENST00000520567.1_Missense_Mutation_p.R951C|RIMS1_ENST00000491071.2_Missense_Mutation_p.R952C|RIMS1_ENST00000538414.1_5'UTR			Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	952					calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				TCACCGCTCACGTTCAGTATC	0.463													12	18					0	0	1	0	0	T	72967911	C	T	72967911	3	4	238	1	0	0	0	0	1	0	0	0	13419	536	19	1	3083	1	RIMS1	6	72967911	Missense_Mutation	SNP	C	TCGA-HT-7477-01B-11D-A289-08	23213805	72967911	98147156	28	26708											
TTK	7272	broad.mit.edu	37	6	80720598	80720598	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr6:80720598G>A	ENST00000509894.1	+	5	1366	c.537G>A	c.(535-537)atG>atA	p.M179I	TTK_ENST00000369798.2_Missense_Mutation_p.M179I|TTK_ENST00000230510.3_Missense_Mutation_p.M179I			P33981	TTK_HUMAN	TTK protein kinase	179					mitotic cell cycle spindle assembly checkpoint|mitotic spindle organization|positive regulation of cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation	spindle	ATP binding|identical protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1)	53		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)		BRCA - Breast invasive adenocarcinoma(397;0.0321)		CACTAGAAATGCTGGAAATTG	0.348													20	42					0	0	1	0	0	A	80720598	G	A	80720598	3	1	238	1	0	0	0	0	1	0	0	0	16782	1319	46	2	551	2	TTK	6	80720598	Missense_Mutation	SNP	G	TCGA-HT-7477-01B-11D-A289-08	7752687	80720598	90394469	29	26709											
TULP4	56995	broad.mit.edu	37	6	158923248	158923248	+	Silent	SNP	G	G	C			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr6:158923248G>C	ENST00000367097.3	+	13	3910	c.2553G>C	c.(2551-2553)ccG>ccC	p.P851P	TULP4_ENST00000367094.2_Intron	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN	tubby like protein 4	851					intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity			endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		CAGCACCCCCGCCCCCTCTGC	0.657													4	9					0	0	1	0	0	C	158923248	G	C	158923248	2	2	238	1	0	0	0	0	0	0	0	1	16838	1074	38	5		5	TULP4	6	158923248	Silent	SNP	G	TCGA-HT-7477-01B-11D-A289-08	78202650	158923248	12191819	30	26710											
CARD11	84433	broad.mit.edu	37	7	2963945	2963945	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr7:2963945G>A	ENST00000396946.4	-	15	2265	c.1862C>T	c.(1861-1863)tCc>tTc	p.S621F		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	621					positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		TTGGTGGGAGGAGGAGGAGGA	0.607			Mis		DLBCL								27	63					0	0	1	0	0	A	2963945	G	A	2963945	3	1	238	1	0	0	0	0	1	0	0	0	2663	1174	41	2	1646	2	CARD11	7	2963945	Missense_Mutation	SNP	G	TCGA-HT-7477-01B-11D-A289-08		2963945	156174718	31	26711											
DBNL	28988	broad.mit.edu	37	7	44097451	44097451	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr7:44097451A>G	ENST00000494774.1	+	6	566	c.545A>G	c.(544-546)aAa>aGa	p.K182R	DBNL_ENST00000440166.1_Missense_Mutation_p.K79R|DBNL_ENST00000497184.1_3'UTR|DBNL_ENST00000490734.2_Missense_Mutation_p.K87R|DBNL_ENST00000452943.1_Missense_Mutation_p.K157R|DBNL_ENST00000448521.1_Missense_Mutation_p.K182R|DBNL_ENST00000456905.1_Missense_Mutation_p.K133R|DBNL_ENST00000468694.1_Missense_Mutation_p.K182R	NM_014063.6	NP_054782.2	Q9UJU6	DBNL_HUMAN	drebrin-like	182					activation of JUN kinase activity|cellular component disassembly involved in apoptosis|endocytosis|Rac protein signal transduction	cell cortex|cytoskeleton|cytosol|lamellipodium	actin binding|enzyme activator activity|identical protein binding			breast(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|stomach(1)	12						TTCTGGGCCAAAGCAGAGGTG	0.547													27	41					0	0	1	0	0	G	44097451	A	G	44097451	3	3	238	1	0	0	0	0	1	0	0	0	4279	14	1	3	567	3	DBNL	7	44097451	Missense_Mutation	SNP	A	TCGA-HT-7477-01B-11D-A289-08	41133506	44097451	115041212	32	26712											
TRIP6	7205	broad.mit.edu	37	7	100465834	100465834	+	Silent	SNP	G	G	A			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr7:100465834G>A	ENST00000200457.4	+	3	702	c.342G>A	c.(340-342)gcG>gcA	p.A114A		NM_003302.2	NP_003293.2	Q15654	TRIP6_HUMAN	thyroid hormone receptor interactor 6	114					focal adhesion assembly|positive regulation of cell migration|regulation of transcription, DNA-dependent|release of cytoplasmic sequestered NF-kappaB|transcription, DNA-dependent	cytoplasm|cytoskeleton|focal adhesion|nucleus	identical protein binding|interleukin-1 receptor binding|kinase binding|thyroid hormone receptor binding|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|liver(1)|lung(5)	14	Lung NSC(181;0.041)|all_lung(186;0.0581)					GGGGTCATGCGTCACGGCGAC	0.662													19	40					0	0	1	0	0	A	100465834	G	A	100465834	2	1	238	1	0	0	0	0	0	0	0	1	16620	1132	40	1		1	TRIP6	7	100465834	Silent	SNP	G	TCGA-HT-7477-01B-11D-A289-08	56368383	100465834	58672829	33	26713											
LRRC4	64101	broad.mit.edu	37	7	127668930	127668930	+	Silent	SNP	G	G	C	rs139849197		TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr7:127668930G>C	ENST00000249363.3	-	2	2021	c.1764C>G	c.(1762-1764)tcC>tcG	p.S588S	SND1_ENST00000354725.3_Intron	NM_022143.4	NP_071426.1	Q9HBW1	LRRC4_HUMAN	leucine rich repeat containing 4	588						cell junction|integral to membrane|postsynaptic membrane				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(4)|pancreas(1)|skin(2)	26				Lung(243;0.124)		CTGATACACCGGACGGAgctg	0.547													20	21					0	0	1	0	0	C	127668930	G	C	127668930	2	2	238	1	0	0	0	0	0	0	0	1	9042	1103	39	5		5	LRRC4	7	127668930	Silent	SNP	G	TCGA-HT-7477-01B-11D-A289-08	27203096	127668930	31469733	34	26714											
PSD3	23362	broad.mit.edu	37	8	18729531	18729531	+	Silent	SNP	T	T	A			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr8:18729531T>A	ENST00000440756.2	-	3	945	c.843A>T	c.(841-843)ccA>ccT	p.P281P	PSD3_ENST00000327040.8_Silent_p.P281P|PSD3_ENST00000523619.1_Silent_p.P216P			Q9NYI0	PSD3_HUMAN	pleckstrin and Sec7 domain containing 3	281					regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		CACATCCCCCTGGGTGCTCTC	0.567													24	110					0	0	1	0	0	A	18729531	T	A	18729531	2	1	238	1	0	0	0	0	0	0	0	1	12697	1567	55	5		5	PSD3	8	18729531	Silent	SNP	T	TCGA-HT-7477-01B-11D-A289-08		18729531	127634491	35	26715											
FUT10	84750	broad.mit.edu	37	8	33246920	33246920	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr8:33246920T>C	ENST00000327671.5	-	4	1404	c.773A>G	c.(772-774)aAt>aGt	p.N258S	FUT10_ENST00000335589.3_Missense_Mutation_p.N196S|FUT10_ENST00000518672.1_Missense_Mutation_p.N230S|FUT10_ENST00000518076.1_5'UTR|FUT10_ENST00000524021.1_Missense_Mutation_p.N230S	NM_032664.3	NP_116053.3	Q6P4F1	FUT10_HUMAN	fucosyltransferase 10 (alpha (1,3) fucosyltransferase)	258					embryo development|fertilization|hemopoiesis|L-fucose catabolic process|nervous system development|protein folding|protein glycosylation|protein targeting|wound healing	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity			cervix(1)|endometrium(1)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	29				KIRC - Kidney renal clear cell carcinoma(67;0.129)|Kidney(114;0.154)		AGAGGCTGGATTTTTCAGCTG	0.438													59	76					0	0	1	0	0	C	33246920	T	C	33246920	3	2	238	1	0	0	0	0	1	0	0	0	6137	1493	52	3	674	3	FUT10	8	33246920	Missense_Mutation	SNP	T	TCGA-HT-7477-01B-11D-A289-08	14517389	33246920	113117102	36	26716											
ADAM2	2515	broad.mit.edu	37	8	39624672	39624672	+	Splice_Site	SNP	T	T	C			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr8:39624672T>C	ENST00000265708.4	-	13	1414	c.1311A>G	c.(1309-1311)ctA>ctG	p.L437L	ADAM2_ENST00000379853.2_Splice_Site_p.L311L|ADAM2_ENST00000347580.4_Splice_Site_p.L418L|ADAM2_ENST00000521880.1_Splice_Site_p.L437L	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2	437	Disintegrin.				cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		AAGCTCTTACTAGACAGTTTT	0.343													70	81					0	0	1	0	0	C	39624672	T	C	39624672	5	2	238	1	0	0	0	0	0	0	1	0	240	1536	53	3	928	3	ADAM2	8	39624672	Splice_Site	SNP	T	TCGA-HT-7477-01B-11D-A289-08	6377752	39624672	106739350	37	26717											
DPYS	1807	broad.mit.edu	37	8	105459580	105459580	+	Missense_Mutation	SNP	T	T	A			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr8:105459580T>A	ENST00000351513.2	-	3	707	c.575A>T	c.(574-576)cAt>cTt	p.H192L		NM_001385.2	NP_001376.1	Q14117	DPYS_HUMAN	dihydropyrimidinase	192					protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process	cytosol	dihydropyrimidinase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			ATTTTCCGCATGGACCTGGGC	0.453													6	103					0	0	1	0	0	A	105459580	T	A	105459580	3	1	238	1	0	0	0	0	1	0	0	0	4772	1464	51	4	1012	4	DPYS	8	105459580	Missense_Mutation	SNP	T	TCGA-HT-7477-01B-11D-A289-08	65834908	105459580	40904442	38	26718											
CSMD3	114788	broad.mit.edu	37	8	113347659	113347659	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr8:113347659C>T	ENST00000297405.5	-	45	7308	c.7064G>A	c.(7063-7065)gGc>gAc	p.G2355D	CSMD3_ENST00000352409.3_Missense_Mutation_p.G2285D|CSMD3_ENST00000455883.2_Missense_Mutation_p.G2251D|CSMD3_ENST00000343508.3_Missense_Mutation_p.G2315D	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2355	CUB 13.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AGCGGTATTGCCACTGAACTG	0.413										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			4	99					0	0	1	0	0	T	113347659	C	T	113347659	3	4	238	1	0	0	0	0	1	0	0	0	3971	739	26	2	4167	2	CSMD3	8	113347659	Missense_Mutation	SNP	C	TCGA-HT-7477-01B-11D-A289-08	7888079	113347659	33016363	39	26719											
CDC14B	8555	broad.mit.edu	37	9	99296298	99296298	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr9:99296298G>A	ENST00000375241.1	-	9	1308	c.857C>T	c.(856-858)gCg>gTg	p.A286V	CDC14B_ENST00000375236.1_Missense_Mutation_p.A286V|CDC14B_ENST00000265659.2_Missense_Mutation_p.A286V|CDC14B_ENST00000375242.3_Missense_Mutation_p.A249V|CDC14B_ENST00000463569.1_Missense_Mutation_p.A286V|CDC14B_ENST00000375240.3_Missense_Mutation_p.A286V	NM_003671.3|NM_033331.2	NP_003662.1|NP_201588.1	O60729	CC14B_HUMAN	cell division cycle 14B	286	B.				activation of anaphase-promoting complex activity|DNA repair|G2/M transition DNA damage checkpoint	nucleolus|nucleoplasm	protein binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)	15		Acute lymphoblastic leukemia(62;0.0559)				GCTGCCATCCGCAAAGAAAAG	0.413													3	32					0	0	1	0	0	A	99296298	G	A	99296298	3	1	238	1	0	0	0	0	1	0	0	0	3079	1087	38	1	663	1	CDC14B	9	99296298	Missense_Mutation	SNP	G	TCGA-HT-7477-01B-11D-A289-08		99296298	41917133	40	26720											
FPGS	2356	broad.mit.edu	37	9	130569293	130569293	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr9:130569293A>G	ENST00000373245.1	+	5	478	c.428A>G	c.(427-429)aAt>aGt	p.N143S	FPGS_ENST00000373225.3_Missense_Mutation_p.N93S|FPGS_ENST00000393706.2_Missense_Mutation_p.N143S|FPGS_ENST00000373247.2_Missense_Mutation_p.N143S|FPGS_ENST00000460181.1_3'UTR			Q05932	FOLC_HUMAN	folylpolyglutamate synthase	143					folic acid metabolic process|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|one-carbon metabolic process	cytosol|mitochondrial matrix	ATP binding|tetrahydrofolylpolyglutamate synthase activity			endometrium(2)|kidney(1)|lung(3)|ovary(1)	7					L-Glutamic Acid(DB00142)	ATCCGCATCAATGGGCAGCCC	0.657													39	136					0	0	1	0	0	G	130569293	A	G	130569293	3	3	238	1	0	0	0	0	1	0	0	0	6070	101	4	3	446	3	FPGS	9	130569293	Missense_Mutation	SNP	A	TCGA-HT-7477-01B-11D-A289-08	31272995	130569293	10644138	41	26721											
ZER1	10444	broad.mit.edu	37	9	131503855	131503855	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr9:131503855G>A	ENST00000291900.2	-	11	2102	c.1696C>T	c.(1696-1698)Ctc>Ttc	p.L566F		NM_006336.2	NP_006327.2	Q7Z7L7	ZER1_HUMAN	zyg-11 related, cell cycle regulator	566					ATP hydrolysis coupled proton transport|regulation of ubiquitin-protein ligase activity	Cul2-RING ubiquitin ligase complex|vacuolar proton-transporting V-type ATPase, V1 domain	protein binding|proton-transporting ATPase activity, rotational mechanism|ubiquitin-protein ligase activity			endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	15						TTGAAATTGAGGAACATCTCG	0.567													39	175					0	0	1	0	0	A	131503855	G	A	131503855	3	1	238	1	0	0	0	0	1	0	0	0	17683	1000	35	2	628	2	ZER1	9	131503855	Missense_Mutation	SNP	G	TCGA-HT-7477-01B-11D-A289-08	934562	131503855	9709576	42	26722											
PLAC9	219348	broad.mit.edu	37	10	81901857	81901857	+	Silent	SNP	T	T	A			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr10:81901857T>A	ENST00000372263.3	+	2	126	c.84T>A	c.(82-84)ccT>ccA	p.P28P	PLAC9_ENST00000372270.2_5'UTR|PLAC9_ENST00000372267.2_Silent_p.P28P	NM_001012973.1	NP_001012991.1	Q5JTB6	PLAC9_HUMAN	placenta-specific 9	28						extracellular region				kidney(1)|ovary(1)	2	Prostate(51;0.0095)|all_epithelial(25;0.175)		Colorectal(32;0.109)			CCTTCAGCCCTCCGCGAGGAG	0.532													8	51					0	0	1	0	0	A	81901857	T	A	81901857	2	1	238	1	0	0	0	0	0	0	0	1	12065	1538	54	5		5	PLAC9	10	81901857	Silent	SNP	T	TCGA-HT-7477-01B-11D-A289-08		81901857	53632890	43	26723											
OR51D1	390038	broad.mit.edu	37	11	4661741	4661741	+	Missense_Mutation	SNP	C	C	A			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr11:4661741C>A	ENST00000357605.2	+	1	797	c.721C>A	c.(721-723)Ctg>Atg	p.L241M		NM_001004751.2	NP_001004751.1	Q8NGF3	O51D1_HUMAN	olfactory receptor, family 51, subfamily D, member 1	241					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|liver(2)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	27		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;2.74e-13)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|GBM - Glioblastoma multiforme(2;0.0841)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGTTTTGGAGCTGTCCTCTCG	0.512													17	37					2.35188e-11	2.40855e-11	1	1	0	A	4661741	C	A	4661741	3	1	238	1	0	0	0	0	1	0	0	0	11141	796	28	4	723	4	OR51D1	11	4661741	Missense_Mutation	SNP	C	TCGA-HT-7477-01B-11D-A289-08		4661741	130344775	44	26724											
OR4S2	219431	broad.mit.edu	37	11	55419308	55419308	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr11:55419308G>T	ENST00000312422.2	+	1	929	c.929G>T	c.(928-930)gGg>gTg	p.G310V		NM_001004059.2	NP_001004059.2	Q8NH73	OR4S2_HUMAN	olfactory receptor, family 4, subfamily S, member 2	310					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_epithelial(135;0.0748)				GAGGCTAAAGGGAAATAGTTG	0.363													62	85					1.38814e-16	1.45669e-16	1	1	0	T	55419308	G	T	55419308	3	4	238	1	0	0	0	0	1	0	0	0	11131	1232	43	5	931	5	OR4S2	11	55419308	Missense_Mutation	SNP	G	TCGA-HT-7477-01B-11D-A289-08	50757567	55419308	79587208	45	26725											
FAT3	120114	broad.mit.edu	37	11	92624025	92624025	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr11:92624025G>T	ENST00000298047.6	+	27	13533	c.13516G>T	c.(13516-13518)Gtg>Ttg	p.V4506L	FAT3_ENST00000489716.1_3'UTR|FAT3_ENST00000409404.2_Missense_Mutation_p.V4474L|FAT3_ENST00000533797.1_Missense_Mutation_p.V809L|FAT3_ENST00000525166.1_Missense_Mutation_p.V4356L			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	4506	Pro-rich.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				AACGGATTTGGTGGGCCCGCC	0.582										TCGA Ovarian(4;0.039)			23	36					9.95505e-16	1.03193e-15	1	1	0	T	92624025	G	T	92624025	3	4	238	1	0	0	0	0	1	0	0	0	5724	1261	44	5	13518	5	FAT3	11	92624025	Missense_Mutation	SNP	G	TCGA-HT-7477-01B-11D-A289-08	37204717	92624025	42382491	46	26726											
PRMT8	56341	broad.mit.edu	37	12	3649787	3649787	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr12:3649787T>C	ENST00000382622.3	+	2	481	c.91T>C	c.(91-93)Tcc>Ccc	p.S31P	PRMT8_ENST00000261252.4_3'UTR|PRMT8_ENST00000452611.2_Missense_Mutation_p.S22P	NM_019854.4	NP_062828.3	Q9NR22	ANM8_HUMAN	protein arginine methyltransferase 8	31					regulation of protein binding	cytoplasm|plasma membrane	histone-arginine N-methyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264)			CAGCCCCCCCTCCCAGCCCCC	0.652													11	110					0	0	1	0	0	C	3649787	T	C	3649787	3	2	238	1	0	0	0	0	1	0	0	0	12594	1551	54	3	97	3	PRMT8	12	3649787	Missense_Mutation	SNP	T	TCGA-HT-7477-01B-11D-A289-08		3649787	130202108	47	26727											
TUBGCP3	10426	broad.mit.edu	37	13	113181323	113181323	+	Silent	SNP	A	A	C			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr13:113181323A>C	ENST00000261965.3	-	13	1674	c.1488T>G	c.(1486-1488)gtT>gtG	p.V496V	TUBGCP3_ENST00000375669.3_Silent_p.V496V|TUBGCP3_ENST00000462580.1_5'UTR	NM_006322.4	NP_006313.1	Q96CW5	GCP3_HUMAN	tubulin, gamma complex associated protein 3	496					G2/M transition of mitotic cell cycle|microtubule nucleation|single fertilization	centriole|cytosol|polar microtubule	gamma-tubulin binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|urinary_tract(1)	25	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)					GATCATGACAAACTTGGTGCA	0.398													9	38					0	0	1	0	0	C	113181323	A	C	113181323	2	2	238	1	0	0	0	0	0	0	0	1	16829	1	1	5		5	TUBGCP3	13	113181323	Silent	SNP	A	TCGA-HT-7477-01B-11D-A289-08		113181323	1988555	48	26728											
DLGAP5	9787	broad.mit.edu	37	14	55643912	55643912	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr14:55643912G>A	ENST00000247191.2	-	8	1133	c.917C>T	c.(916-918)tCc>tTc	p.S306F	DLGAP5_ENST00000395425.2_Missense_Mutation_p.S306F	NM_014750.4	NP_055565.3	Q15398	DLGP5_HUMAN	discs, large (Drosophila) homolog-associated protein 5	306					cell proliferation|cell-cell signaling|mitotic chromosome movement towards spindle pole|positive regulation of mitotic metaphase/anaphase transition	nucleus|spindle pole centrosome	phosphoprotein phosphatase activity|protein binding			biliary_tract(1)|breast(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	44						AGGTGCAAAGGAATTCTTCCC	0.383													19	12					0	0	1	0	0	A	55643912	G	A	55643912	3	1	238	1	0	0	0	0	1	0	0	0	4591	1174	41	2	1766	2	DLGAP5	14	55643912	Missense_Mutation	SNP	G	TCGA-HT-7477-01B-11D-A289-08		55643912	51705628	49	26729											
RYR3	6263	broad.mit.edu	37	15	34040420	34040420	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr15:34040420C>T	ENST00000389232.4	+	54	8165	c.8095C>T	c.(8095-8097)Cgg>Tgg	p.R2699W	RYR3_ENST00000415757.3_Missense_Mutation_p.R2699W	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	2699	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GGTTCAACAGCGGGAAAATGA	0.567													4	70					0	0	1	0	0	T	34040420	C	T	34040420	3	4	238	1	0	0	0	0	1	0	0	0	13822	759	27	1	8309	1	RYR3	15	34040420	Missense_Mutation	SNP	C	TCGA-HT-7477-01B-11D-A289-08		34040420	68490972	50	26730											
CIB1	10519	broad.mit.edu	37	15	90775542	90775542	+	Missense_Mutation	SNP	C	C	A			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr15:90775542C>A	ENST00000328649.6	-	3	265	c.104G>T	c.(103-105)tGt>tTt	p.C35F		NM_006384.3	NP_006375.2	Q99828	CIB1_HUMAN	calcium and integrin binding 1 (calmyrin)	35					apoptosis|cell adhesion|double-strand break repair	apical plasma membrane|endoplasmic reticulum|filopodium|nucleoplasm	calcium ion binding|protein binding			lung(1)|prostate(1)	2	Melanoma(11;0.00551)|Lung NSC(78;0.0141)|all_lung(78;0.0303)		BRCA - Breast invasive adenocarcinoma(143;0.00269)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.217)			AAGCAGCTCACAAAACCGCCT	0.587													9	24					1.2476e-16	1.32557e-16	1	1	0	A	90775542	C	A	90775542	3	1	238	1	0	0	0	0	1	0	0	0	3442	478	17	5	491	5	CIB1	15	90775542	Missense_Mutation	SNP	C	TCGA-HT-7477-01B-11D-A289-08	56735122	90775542	11755850	51	26731											
TP53	7157	broad.mit.edu	37	17	7578394	7578394	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr17:7578394T>C	ENST00000420246.2	-	5	668	c.536A>G	c.(535-537)cAt>cGt	p.H179R	TP53_ENST00000455263.2_Missense_Mutation_p.H179R|TP53_ENST00000359597.4_Missense_Mutation_p.H179R|TP53_ENST00000445888.2_Missense_Mutation_p.H179R|TP53_ENST00000269305.4_Missense_Mutation_p.H179R|TP53_ENST00000413465.2_Missense_Mutation_p.H179R|TP53_ENST00000574684.1_5'UTR	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	179	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).|HH -> QS (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.H179R(108)|p.H179L(43)|p.P177_C182delPHHERC(8)|p.0?(8)|p.H47L(4)|p.H86L(4)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H179P(3)|p.H178_S183delHHERCS(3)|p.R175_E180delRCPHHE(3)|p.P177fs*3(2)|p.V173fs*59(2)|p.H86R(2)|p.H47R(2)|p.R174fs*1(2)|p.H179fs*68(1)|p.C176fs*65(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H46_S51delHHERCS(1)|p.H178fs*6(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.H85_S90delHHERCS(1)|p.E171fs*1(1)|p.R174fs*3(1)|p.E171fs*61(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)		GCAGCGCTCATGGTGGGGGCA	0.642		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)			72	9					0	0	1	0	0	C	7578394	T	C	7578394	3	2	238	1	0	0	0	0	1	0	0	0	16442	1464	51	3	762	3	TP53	17	7578394	Missense_Mutation	SNP	T	TCGA-HT-7477-01B-11D-A289-08		7578394	73616816	52	26732											
MYO15A	51168	broad.mit.edu	37	17	18022907	18022907	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr17:18022907G>A	ENST00000205890.5	+	2	1131	c.793G>A	c.(793-795)Ggc>Agc	p.G265S		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	265	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					GGCGGGCCTCGGCCCCTACAG	0.652													41	64					0	0	1	0	0	A	18022907	G	A	18022907	3	1	238	1	0	0	0	0	1	0	0	0	10111	1116	39	1	795	1	MYO15A	17	18022907	Missense_Mutation	SNP	G	TCGA-HT-7477-01B-11D-A289-08	10444513	18022907	63172303	53	26733											
VEZF1	7716	broad.mit.edu	37	17	56060673	56060673	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr17:56060673C>G	ENST00000584396.1	-	2	176	c.88G>C	c.(88-90)Gat>Cat	p.D30H	VEZF1_ENST00000581208.1_Missense_Mutation_p.D39H			Q14119	VEZF1_HUMAN	vascular endothelial zinc finger 1	39					cellular defense response|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(2)|lung(5)|ovary(1)	10						GGTTTCTGATCAGGGGGCTCC	0.473													77	87					0	0	1	0	0	G	56060673	C	G	56060673	3	3	238	1	0	0	0	0	1	0	0	0	17215	826	29	5	1470	5	VEZF1	17	56060673	Missense_Mutation	SNP	C	TCGA-HT-7477-01B-11D-A289-08	38037766	56060673	25134537	54	26734											
DNAI2	64446	broad.mit.edu	37	17	72301394	72301394	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr17:72301394G>A	ENST00000579490.1	+	8	1330	c.1195G>A	c.(1195-1197)Gtc>Atc	p.V399I	DNAI2_ENST00000307504.5_Missense_Mutation_p.V199I|DNAI2_ENST00000582036.1_Missense_Mutation_p.V342I|DNAI2_ENST00000311014.6_Missense_Mutation_p.V342I|DNAI2_ENST00000446837.2_Missense_Mutation_p.V342I			Q9GZS0	DNAI2_HUMAN	dynein, axonemal, intermediate chain 2	342					cilium assembly	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						GCAGGGCATCGTCATCTCCTG	0.577									Kartagener syndrome				10	102					0	0	1	0	0	A	72301394	G	A	72301394	3	1	238	1	0	0	0	0	1	0	0	0	4637	1145	40	1	1054	1	DNAI2	17	72301394	Missense_Mutation	SNP	G	TCGA-HT-7477-01B-11D-A289-08	16240721	72301394	8893816	55	26735											
CD97	976	broad.mit.edu	37	19	14517251	14517251	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr19:14517251G>A	ENST00000242786.5	+	15	2010	c.1930G>A	c.(1930-1932)Gtg>Atg	p.V644M	CD97_ENST00000358600.3_Missense_Mutation_p.V551M|CD97_ENST00000357355.3_Missense_Mutation_p.V595M|CTC-548K16.5_ENST00000590626.1_RNA	NM_078481.3	NP_510966.1	P48960	CD97_HUMAN	CD97 molecule	644					cell adhesion|cell-cell signaling|cellular component movement|immune response|inflammatory response|neuropeptide signaling pathway	extracellular space|integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						TGTGGTGCGCGTGTTCCAAGG	0.652											OREG0025312	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	14					0	0	1	0	0	A	14517251	G	A	14517251	3	1	238	1	0	0	0	0	1	0	0	0	3071	1145	40	1	1988	1	CD97	19	14517251	Missense_Mutation	SNP	G	TCGA-HT-7477-01B-11D-A289-08		14517251	44611732	56	26736											
NUDT19	390916	broad.mit.edu	37	19	33183087	33183087	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr19:33183087C>T	ENST00000397061.3	+	1	221	c.221C>T	c.(220-222)gCg>gTg	p.A74V		NM_001105570.1	NP_001099040.1	A8MXV4	NUD19_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 19	74	Nudix hydrolase.					mitochondrion|peroxisome	hydrolase activity|metal ion binding			endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	8	Esophageal squamous(110;0.137)					GACCGCTCGGCGGACTGGCTG	0.751													9	30					0	0	1	0	0	T	33183087	C	T	33183087	3	4	238	1	0	0	0	0	1	0	0	0	10784	768	27	1	223	1	NUDT19	19	33183087	Missense_Mutation	SNP	C	TCGA-HT-7477-01B-11D-A289-08	18665836	33183087	25945896	57	26737											
LILRB1	10859	broad.mit.edu	37	19	55143156	55143157	+	Frame_Shift_Del	DEL	TG	TG	-	rs12462774	by1000genomes	TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr19:55143156_55143157delTG	ENST00000396331.1	+	5	633_634	c.276_277delTG	c.(274-279)catgcafs	p.A93fs	LILRB1_ENST00000396321.2_Frame_Shift_Del_p.A93fs|LILRB1_ENST00000396315.1_Frame_Shift_Del_p.A93fs|LILRB1_ENST00000396332.4_Frame_Shift_Del_p.A93fs|LILRB1_ENST00000434867.2_Frame_Shift_Del_p.A93fs|LILRB1_ENST00000396327.3_Frame_Shift_Del_p.A93fs|LILRB1_ENST00000448689.1_Frame_Shift_Del_p.A93fs|LILRB1_ENST00000396317.1_Frame_Shift_Del_p.A93fs|LILRB1_ENST00000418536.2_Frame_Shift_Del_p.A93fs|LILRB1_ENST00000427581.2_Frame_Shift_Del_p.A129fs|LILRB1_ENST00000324602.7_Frame_Shift_Del_p.A93fs	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	93	Ig-like C2-type 1.		A -> T (in dbSNP:rs12460501).		regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		CCTGGGAACATGCAGGGCGGTA	0.554										HNSCC(37;0.09)			12	193	---	---	---	---						-	55143157	TG	-	55143156	7	5	238	1	0	1	0	1	0	0	0	0	8830	1461	51	0	286	0	LILRB1	19	55143156	Frame_Shift_Del	DEL	TG	TCGA-HT-7477-01B-11D-A289-08	21960069	55143156	3985827	58	26738											
SPATA2	9825	broad.mit.edu	37	20	48523042	48523042	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr20:48523042G>A	ENST00000422556.1	-	3	1026	c.677C>T	c.(676-678)tCa>tTa	p.S226L	SPATA2_ENST00000289431.5_Missense_Mutation_p.S226L|SPATA2_ENST00000543716.1_Missense_Mutation_p.S89L	NM_001135773.1	NP_001129245.1	Q9UM82	SPAT2_HUMAN	spermatogenesis associated 2	226					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm|nucleus				central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	20	Hepatocellular(150;0.133)		BRCA - Breast invasive adenocarcinoma(9;4.03e-06)			TGCCACTCGTGACATGGAGGC	0.672													18	49					0	0	1	0	0	A	48523042	G	A	48523042	3	1	238	1	0	0	0	0	1	0	0	0	15061	1294	45	2	889	2	SPATA2	20	48523042	Missense_Mutation	SNP	G	TCGA-HT-7477-01B-11D-A289-08		48523042	14502478	59	26739											
SCUBE1	80274	broad.mit.edu	37	22	43606074	43606074	+	Silent	SNP	G	G	A			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr22:43606074G>A	ENST00000360835.4	-	19	2682	c.2556C>T	c.(2554-2556)ggC>ggT	p.G852G		NM_173050.3	NP_766638.2	Q8IWY4	SCUB1_HUMAN	signal peptide, CUB domain, EGF-like 1		CUB.				adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization	external side of plasma membrane|extracellular space|extrinsic to plasma membrane	calcium ion binding|identical protein binding|protein heterodimerization activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_neural(38;0.0414)|Ovarian(80;0.07)				CCAGAACATCGCCGCACTCAT	0.632													45	14					0	0	1	0	0	A	43606074	G	A	43606074	2	1	238	1	0	0	0	0	0	0	0	1	13998	1074	38	1		1	SCUBE1	22	43606074	Silent	SNP	G	TCGA-HT-7477-01B-11D-A289-08		43606074	7698492	60	26740											
ATRX	546	broad.mit.edu	37	X	76940500	76940500	+	Splice_Site	SNP	T	T	G			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chrX:76940500T>G	ENST00000373344.5	-	8	809		c.e8-2		ATRX_ENST00000480283.1_Splice_Site|ATRX_ENST00000395603.3_Splice_Site	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked						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)	AAAGCAATTCTATTAAAAGAA	0.294			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						44	5					0	0	1	0	0	G	76940500	T	G	76940500	5	3	238	1	0	0	0	0	0	0	1	0	1206	1536	53	5	6997	5	ATRX	23	76940500	Splice_Site	SNP	T	TCGA-HT-7477-01B-11D-A289-08		76940500	78330060	61	26741											
ACTRT1	139741	broad.mit.edu	37	X	127185376	127185376	+	Silent	SNP	G	G	T			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chrX:127185376G>T	ENST00000371124.3	-	1	1006	c.810C>A	c.(808-810)atC>atA	p.I270I		NM_138289.3	NP_612146.1	Q8TDG2	ACTT1_HUMAN	actin-related protein T1	270						cytoplasm|cytoskeleton				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	34						CTGGGCTGTGGATGCCCAGCT	0.512													49	27					1.51926e-22	1.63464e-22	1	1	0	T	127185376	G	T	127185376	2	4	238	1	0	0	0	0	0	0	0	1	217	1164	41	5		5	ACTRT1	23	127185376	Silent	SNP	G	TCGA-HT-7477-01B-11D-A289-08	50244876	127185376	28085184	62	26742											
TNFRSF14	8764	broad.mit.edu	37	1	2492072	2492072	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-7478-01A-11D-2024-08	TCGA-HT-7478-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ded8014c-bb43-4e2b-af8e-0975936031c3	ceb62f6b-8044-4a7b-97f9-da9ad10c8021	g.chr1:2492072G>T	ENST00000355716.4	+	5	769	c.470G>T	c.(469-471)aGt>aTt	p.S157I	TNFRSF14_ENST00000409119.1_Missense_Mutation_p.S157I	NM_003820.2	NP_003811.2	Q92956	TNR14_HUMAN	tumor necrosis factor receptor superfamily, member 14	157					immune response|interspecies interaction between organisms|T cell costimulation		tumor necrosis factor receptor activity			kidney(1)	1	all_cancers(77;0.000158)|all_epithelial(69;8.01e-05)|all_lung(157;0.0212)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.18e-20)|all_lung(118;1.67e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;1.1e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.02e-23)|GBM - Glioblastoma multiforme(42;1.11e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000326)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.199)		GGCACCGAGAGTCAGGACACC	0.632			"Mis, N, F"		follicular lymphoma								4	13					0.00909568	0.00945951	1	1	0	T	2492072	G	T	2492072	3	4	239	1	0	0	0	0	1	0	0	0	16349	1029	36	4	488	4	TNFRSF14	1	2492072	Missense_Mutation	SNP	G	TCGA-HT-7478-01A-11D-2024-08		2492072	246758549	1	26743											
MTOR	2475	broad.mit.edu	37	1	11184641	11184641	+	Silent	SNP	C	C	T			TCGA-HT-7478-01A-11D-2024-08	TCGA-HT-7478-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ded8014c-bb43-4e2b-af8e-0975936031c3	ceb62f6b-8044-4a7b-97f9-da9ad10c8021	g.chr1:11184641C>T	ENST00000361445.4	-	47	6652	c.6576G>A	c.(6574-6576)ctG>ctA	p.L2192L	MTOR_ENST00000376838.1_Silent_p.L397L	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	2192	PI3K/PI4K.				cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						CATCCTGGCGCAGATCTTCAT	0.507													13	50					0	0	1	0	0	T	11184641	C	T	11184641	2	4	239	1	0	0	0	0	0	0	0	1	10002	697	25	2		2	MTOR	1	11184641	Silent	SNP	C	TCGA-HT-7478-01A-11D-2024-08	8692569	11184641	238065980	2	26744											
SPATA6	54558	broad.mit.edu	37	1	48771507	48771507	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-7478-01A-11D-2024-08	TCGA-HT-7478-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ded8014c-bb43-4e2b-af8e-0975936031c3	ceb62f6b-8044-4a7b-97f9-da9ad10c8021	g.chr1:48771507C>G	ENST00000371847.3	-	12	1402	c.1238G>C	c.(1237-1239)aGa>aCa	p.R413T	SPATA6_ENST00000371843.3_Missense_Mutation_p.R397T|SPATA6_ENST00000396199.3_Missense_Mutation_p.R341T	NM_019073.2	NP_061946.1	Q9NWH7	SPAT6_HUMAN	spermatogenesis associated 6	413					cell differentiation|multicellular organismal development|spermatogenesis	extracellular region				breast(1)|endometrium(2)|large_intestine(6)|lung(7)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	21						TAAAAGACTTCTTTTCAGTTC	0.353													7	164					0	0	1	0	0	G	48771507	C	G	48771507	3	3	239	1	0	0	0	0	1	0	0	0	15069	913	32	4	236	4	SPATA6	1	48771507	Missense_Mutation	SNP	C	TCGA-HT-7478-01A-11D-2024-08	37586866	48771507	200479114	3	26745											
PLA2G4A	5321	broad.mit.edu	37	1	186946833	186946833	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-7478-01A-11D-2024-08	TCGA-HT-7478-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ded8014c-bb43-4e2b-af8e-0975936031c3	ceb62f6b-8044-4a7b-97f9-da9ad10c8021	g.chr1:186946833C>G	ENST00000367466.3	+	16	2025	c.1873C>G	c.(1873-1875)Ccc>Gcc	p.P625A	PLA2G4A_ENST00000442353.2_Missense_Mutation_p.P565A	NM_024420.2	NP_077734	P47712	PA24A_HUMAN	phospholipase A2, group IVA (cytosolic, calcium-dependent)	625	PLA2c.				phospholipid catabolic process|platelet activating factor biosynthetic process|platelet activation	cytosol|endoplasmic reticulum membrane	calcium ion binding|calcium-dependent phospholipid binding|lysophospholipase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|prostate(3)|skin(4)|stomach(1)	53					Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Medrysone(DB00253)|Quinacrine(DB01103)	TGTCTTTAAACCCAAGAATCC	0.443													29	82					0	0	1	0	0	G	186946833	C	G	186946833	3	3	239	1	0	0	0	0	1	0	0	0	12049	507	18	5	1931	5	PLA2G4A	1	186946833	Missense_Mutation	SNP	C	TCGA-HT-7478-01A-11D-2024-08	138175326	186946833	62303788	4	26746											
GREB1	9687	broad.mit.edu	37	2	11728938	11728938	+	Missense_Mutation	SNP	C	C	T	rs151098036	by1000genomes	TCGA-HT-7478-01A-11D-2024-08	TCGA-HT-7478-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ded8014c-bb43-4e2b-af8e-0975936031c3	ceb62f6b-8044-4a7b-97f9-da9ad10c8021	g.chr2:11728938C>T	ENST00000381486.2	+	10	1526	c.1226C>T	c.(1225-1227)aCg>aTg	p.T409M	GREB1_ENST00000234142.5_Missense_Mutation_p.T409M|GREB1_ENST00000381483.2_Missense_Mutation_p.T409M	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	409						integral to membrane				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		CTCTTGTACACGTGCTACCAG	0.592													6	86					0	0	1	0	0	T	11728938	C	T	11728938	3	4	239	1	0	0	0	0	1	0	0	0	6801	536	19	1	1335	1	GREB1	2	11728938	Missense_Mutation	SNP	C	TCGA-HT-7478-01A-11D-2024-08		11728938	231470435	5	26747											
FSHR	2492	broad.mit.edu	37	2	49190307	49190307	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-7478-01A-11D-2024-08	TCGA-HT-7478-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ded8014c-bb43-4e2b-af8e-0975936031c3	ceb62f6b-8044-4a7b-97f9-da9ad10c8021	g.chr2:49190307G>T	ENST00000406846.2	-	10	1772	c.1653C>A	c.(1651-1653)caC>caA	p.H551Q	FSHR_ENST00000541117.1_Missense_Mutation_p.H287Q|FSHR_ENST00000304421.4_Missense_Mutation_p.H525Q|FSHR_ENST00000346173.3_Missense_Mutation_p.H489Q	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	551					female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)	TGAGGTAGATGTGGATATAGC	0.527									Gonadal Dysgenesis, 46 XX				9	29					0.000442599	0.000479483	1	1	0	T	49190307	G	T	49190307	3	4	239	1	0	0	0	0	1	0	0	0	6108	1368	48	5	438	5	FSHR	2	49190307	Missense_Mutation	SNP	G	TCGA-HT-7478-01A-11D-2024-08	37461369	49190307	194009066	6	26748											
BAZ2B	29994	broad.mit.edu	37	2	160295595	160295595	+	Missense_Mutation	SNP	T	T	A			TCGA-HT-7478-01A-11D-2024-08	TCGA-HT-7478-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ded8014c-bb43-4e2b-af8e-0975936031c3	ceb62f6b-8044-4a7b-97f9-da9ad10c8021	g.chr2:160295595T>A	ENST00000392783.2	-	7	1320	c.825A>T	c.(823-825)gaA>gaT	p.E275D	BAZ2B_ENST00000355831.2_Missense_Mutation_p.E275D|BAZ2B_ENST00000343439.5_Missense_Mutation_p.E273D|BAZ2B_ENST00000392782.1_Missense_Mutation_p.E273D	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	275	Poly-Glu.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						TACTTTGAtcttcttcttctt	0.363													13	108					0	0	1	0	0	A	160295595	T	A	160295595	3	1	239	1	0	0	0	0	1	0	0	0	1330	1606	56	5	5805	5	BAZ2B	2	160295595	Missense_Mutation	SNP	T	TCGA-HT-7478-01A-11D-2024-08	111105288	160295595	82903778	7	26749											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-HT-7478-01A-11D-2024-08	TCGA-HT-7478-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ded8014c-bb43-4e2b-af8e-0975936031c3	ceb62f6b-8044-4a7b-97f9-da9ad10c8021	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								29	56					0	0	1	0	0	T	209113112	C	T	209113112	3	4	239	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HT-7478-01A-11D-2024-08	48817517	209113112	34086261	8	26750											
CXCR2	3579	broad.mit.edu	37	2	219000407	219000407	+	Missense_Mutation	SNP	G	G	C			TCGA-HT-7478-01A-11D-2024-08	TCGA-HT-7478-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ded8014c-bb43-4e2b-af8e-0975936031c3	ceb62f6b-8044-4a7b-97f9-da9ad10c8021	g.chr2:219000407G>C	ENST00000318507.2	+	3	1310	c.883G>C	c.(883-885)Gct>Cct	p.A295P		NM_001557.3	NP_001548.1	P25025	CXCR2_HUMAN	chemokine (C-X-C motif) receptor 2	295					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular defense response|dendritic cell chemotaxis|inflammatory response|neutrophil activation|neutrophil chemotaxis|positive regulation of cell proliferation	cell surface|integral to plasma membrane|mast cell granule	interleukin-8 receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(11)|skin(1)|stomach(1)	22						CATCGACCGGGCTCTGGATGC	0.592													27	67					0	0	1	0	0	C	219000407	G	C	219000407	3	2	239	1	0	0	0	0	1	0	0	0	4114	1203	42	5	885	5	CXCR2	2	219000407	Missense_Mutation	SNP	G	TCGA-HT-7478-01A-11D-2024-08	9887295	219000407	24198966	9	26751											
UGT1A6	54578	broad.mit.edu	37	2	234602275	234602275	+	Missense_Mutation	SNP	G	G	C			TCGA-HT-7478-01A-11D-2024-08	TCGA-HT-7478-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ded8014c-bb43-4e2b-af8e-0975936031c3	ceb62f6b-8044-4a7b-97f9-da9ad10c8021	g.chr2:234602275G>C	ENST00000305139.6	+	1	764	c.625G>C	c.(625-627)Gtg>Ctg	p.V209L	UGT1A7_ENST00000373426.3_Intron|UGT1A6_ENST00000480628.1_Intron|AC114812.8_ENST00000439336.1_RNA|UGT1A6_ENST00000373424.1_Intron|UGT1A1_ENST00000609637.1_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A1_ENST00000373450.4_Intron|UGT1A10_ENST00000373445.1_Intron	NM_001072.3	NP_001063.2														central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;5.86e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000384)|Lung(119;0.00306)|LUSC - Lung squamous cell carcinoma(224;0.00702)		TTCCCAACGAGTGGCCAACTT	0.448													63	127					0	0	1	0	0	C	234602275	G	C	234602275	3	2	239	1	0	0	0	0	1	0	0	0	17009	1029	36	4	627	4	UGT1A6	2	234602275	Missense_Mutation	SNP	G	TCGA-HT-7478-01A-11D-2024-08	15601868	234602275	8597098	10	26752											
CEP97	79598	broad.mit.edu	37	3	101447686	101447686	+	Missense_Mutation	SNP	G	G	C			TCGA-HT-7478-01A-11D-2024-08	TCGA-HT-7478-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ded8014c-bb43-4e2b-af8e-0975936031c3	ceb62f6b-8044-4a7b-97f9-da9ad10c8021	g.chr3:101447686G>C	ENST00000341893.3	+	4	1104	c.352G>C	c.(352-354)Gaa>Caa	p.E118Q	CEP97_ENST00000494050.1_Missense_Mutation_p.E118Q|CEP97_ENST00000327230.4_Missense_Mutation_p.E118Q			Q8IW35	CEP97_HUMAN	centrosomal protein 97kDa	118						centrosome|nucleus	protein binding	p.E118K(1)		cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29						ATAGGCCATGGAACAGATCAA	0.353													34	59					0	0	1	0	0	C	101447686	G	C	101447686	3	2	239	1	0	0	0	0	1	0	0	0	3285	1175	41	5	366	5	CEP97	3	101447686	Missense_Mutation	SNP	G	TCGA-HT-7478-01A-11D-2024-08		101447686	96574744	11	26753											
PIK3CA	5290	broad.mit.edu	37	3	178952085	178952085	+	Missense_Mutation	SNP	A	A	T	rs121913279		TCGA-HT-7478-01A-11D-2024-08	TCGA-HT-7478-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ded8014c-bb43-4e2b-af8e-0975936031c3	ceb62f6b-8044-4a7b-97f9-da9ad10c8021	g.chr3:178952085A>T	ENST00000263967.3	+	21	3297	c.3140A>T	c.(3139-3141)cAt>cTt	p.H1047L		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1047	PI3K/PI4K.		H -> L (in cancer).|H -> R (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane).|H -> Y (in cancer).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.H1047R(1387)|p.H1047L(194)|p.H1047P(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			AATGATGCACATCATGGTGGC	0.378	H1047L(EFM19_BREAST)|H1047R(BT20_BREAST)|H1047R(CAL29_URINARY_TRACT)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(HCC1954_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(MCAS_OVARY)|H1047R(MDAMB453_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(RKO_LARGE_INTESTINE)|H1047R(SKOV3_OVARY)|H1047R(T47D_BREAST)	57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			12	79					0	0	1	0	0	T	178952085	A	T	178952085	3	4	239	1	0	0	0	0	1	0	0	0	11961	217	8	4	3218	4	PIK3CA	3	178952085	Missense_Mutation	SNP	A	TCGA-HT-7478-01A-11D-2024-08	77504399	178952085	19070345	12	26754											
PDGFRA	5156	broad.mit.edu	37	4	55152105	55152105	+	Missense_Mutation	SNP	A	A	G	rs121913268		TCGA-HT-7478-01A-11D-2024-08	TCGA-HT-7478-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ded8014c-bb43-4e2b-af8e-0975936031c3	ceb62f6b-8044-4a7b-97f9-da9ad10c8021	g.chr4:55152105A>G	ENST00000257290.5	+	18	2868	c.2537A>G	c.(2536-2538)gAt>gGt	p.D846G	FIP1L1_ENST00000507166.1_Missense_Mutation_p.D606G	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	846	Protein kinase.				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity	p.I843_D846del(11)|p.I843_S847>T(3)|p.M844_S847del(2)|p.D842_D846>E(2)|p.D842_D846>S(1)|p.D842_S847>EA(1)|p.D842_D846>G(1)|p.H845_N848>P(1)		NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	ATCATGCATGATTCGAACTAT	0.498			"Mis, O, T"	FIP1L1	"GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			7	141					0	0	1	0	0	G	55152105	A	G	55152105	3	3	239	1	0	0	0	0	1	0	0	0	11708	333	12	3	2603	3	PDGFRA	4	55152105	Missense_Mutation	SNP	A	TCGA-HT-7478-01A-11D-2024-08		55152105	136002171	13	26755											
STC2	8614	broad.mit.edu	37	5	172750382	172750382	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-7478-01A-11D-2024-08	TCGA-HT-7478-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ded8014c-bb43-4e2b-af8e-0975936031c3	ceb62f6b-8044-4a7b-97f9-da9ad10c8021	g.chr5:172750382G>T	ENST00000265087.4	-	3	1655	c.346C>A	c.(346-348)Cac>Aac	p.H116N	STC2_ENST00000520593.1_5'UTR	NM_003714.2	NP_003705.1	O76061	STC2_HUMAN	stanniocalcin 2	116					cell surface receptor linked signaling pathway|cell-cell signaling	extracellular region	hormone activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(3)	25	Renal(175;0.000159)|Lung NSC(126;0.00229)|all_lung(126;0.004)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|Ovarian(839;0.223)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			CCGAACCTGTGCCGCAGAGCG	0.592													4	28					0.014758	0.0150474	1	1	0	T	172750382	G	T	172750382	3	4	239	1	0	0	0	0	1	0	0	0	15332	1319	46	5	570	5	STC2	5	172750382	Missense_Mutation	SNP	G	TCGA-HT-7478-01A-11D-2024-08		172750382	8164878	14	26756											
PRDM13	59336	broad.mit.edu	37	6	100062262	100062262	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7478-01A-11D-2024-08	TCGA-HT-7478-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ded8014c-bb43-4e2b-af8e-0975936031c3	ceb62f6b-8044-4a7b-97f9-da9ad10c8021	g.chr6:100062262G>A	ENST00000369215.4	+	4	2056	c.1751G>A	c.(1750-1752)cGc>cAc	p.R584H		NM_021620.3	NP_067633.2	Q9H4Q3	PRD13_HUMAN	PR domain containing 13	584					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(9)|prostate(1)	17		all_cancers(76;1.64e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0128)|Colorectal(196;0.069)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.0598)		CTGTACTCGCGCAAGTATGGG	0.662													3	26					0	0	1	0	0	A	100062262	G	A	100062262	3	1	239	1	0	0	0	0	1	0	0	0	12506	1087	38	1	1765	1	PRDM13	6	100062262	Missense_Mutation	SNP	G	TCGA-HT-7478-01A-11D-2024-08		100062262	71052805	15	26757											
TRIM35	23087	broad.mit.edu	37	8	27145295	27145295	+	Silent	SNP	C	C	T			TCGA-HT-7478-01A-11D-2024-08	TCGA-HT-7478-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ded8014c-bb43-4e2b-af8e-0975936031c3	ceb62f6b-8044-4a7b-97f9-da9ad10c8021	g.chr8:27145295C>T	ENST00000305364.4	-	6	1337	c.1254G>A	c.(1252-1254)tcG>tcA	p.S418S	TRIM35_ENST00000521253.1_3'UTR	NM_171982.3	NP_741983.2	Q9UPQ4	TRI35_HUMAN	tripartite motif containing 35	418	B30.2/SPRY.				apoptosis|induction of apoptosis|negative regulation of mitotic cell cycle	cytoplasm|nucleus	zinc ion binding			breast(1)|endometrium(6)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	14		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0213)|Epithelial(17;9.34e-10)|Colorectal(74;0.141)		GGACCAGGGGCGACGTGGCTG	0.667													4	10					0	0	1	0	0	T	27145295	C	T	27145295	2	4	239	1	0	0	0	0	0	0	0	1	16570	755	27	1		1	TRIM35	8	27145295	Silent	SNP	C	TCGA-HT-7478-01A-11D-2024-08		27145295	119218727	16	26758											
MYO3A	53904	broad.mit.edu	37	10	26241102	26241102	+	Missense_Mutation	SNP	G	G	C			TCGA-HT-7478-01A-11D-2024-08	TCGA-HT-7478-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ded8014c-bb43-4e2b-af8e-0975936031c3	ceb62f6b-8044-4a7b-97f9-da9ad10c8021	g.chr10:26241102G>C	ENST00000265944.5	+	3	229	c.63G>C	c.(61-63)tgG>tgC	p.W21C	MYO3A_ENST00000376302.1_Missense_Mutation_p.W21C|MYO3A_ENST00000543632.1_Missense_Mutation_p.W21C|MYO3A_ENST00000376301.1_Missense_Mutation_p.W21C	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	21	Protein kinase.				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						CTGATACATGGGAAATCACTG	0.328													16	50					0	0	1	0	0	C	26241102	G	C	26241102	3	2	239	1	0	0	0	0	1	0	0	0	10124	1241	43	5	65	5	MYO3A	10	26241102	Missense_Mutation	SNP	G	TCGA-HT-7478-01A-11D-2024-08		26241102	109293645	17	26759											
OR5T3	390154	broad.mit.edu	37	11	56020656	56020656	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HT-7478-01A-11D-2024-08	TCGA-HT-7478-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ded8014c-bb43-4e2b-af8e-0975936031c3	ceb62f6b-8044-4a7b-97f9-da9ad10c8021	g.chr11:56020656delA	ENST00000303059.3	+	1	981	c.981delA	c.(979-981)gtafs	p.V327fs		NM_001004747.1	NP_001004747.1	Q8NGG3	OR5T3_HUMAN	olfactory receptor, family 5, subfamily T, member 3	327					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	39	Esophageal squamous(21;0.00448)					ACAAAGAAGTAAAAAAGGCAG	0.323													18	59	---	---	---	---						-	56020656	A	-	56020656	7	5	239	1	0	1	0	1	0	0	0	0	11230	349	13	0	983	0	OR5T3	11	56020656	Frame_Shift_Del	DEL	A	TCGA-HT-7478-01A-11D-2024-08		56020656	78985860	18	26760											
TYR	7299	broad.mit.edu	37	11	88911234	88911234	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7478-01A-11D-2024-08	TCGA-HT-7478-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ded8014c-bb43-4e2b-af8e-0975936031c3	ceb62f6b-8044-4a7b-97f9-da9ad10c8021	g.chr11:88911234C>T	ENST00000263321.5	+	1	615	c.113C>T	c.(112-114)cCg>cTg	p.P38L	TYR_ENST00000526139.1_3'UTR	NM_000372.4	NP_000363.1	P14679	TYRO_HUMAN	tyrosinase	38					eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception	Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm	copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)			Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157)	TGCTGTCCACCGTGGAGCGGG	0.547													21	41					0	0	1	0	0	T	88911234	C	T	88911234	3	4	239	1	0	0	0	0	1	0	0	0	16875	652	23	1	115	1	TYR	11	88911234	Missense_Mutation	SNP	C	TCGA-HT-7478-01A-11D-2024-08	32890578	88911234	46095282	19	26761											
TEAD4	7004	broad.mit.edu	37	12	3129912	3129912	+	Silent	SNP	C	C	T			TCGA-HT-7478-01A-11D-2024-08	TCGA-HT-7478-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ded8014c-bb43-4e2b-af8e-0975936031c3	ceb62f6b-8044-4a7b-97f9-da9ad10c8021	g.chr12:3129912C>T	ENST00000359864.2	+	9	886	c.696C>T	c.(694-696)ttC>ttT	p.F232F	TEAD4_ENST00000397122.2_Silent_p.F103F|TEAD4_ENST00000358409.2_Silent_p.F189F	NM_003213.3	NP_003204	Q15561	TEAD4_HUMAN	TEA domain family member 4	232					hippo signaling cascade|muscle organ development|skeletal system development		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10	Ovarian(42;0.211)		OV - Ovarian serous cystadenocarcinoma(31;0.000563)|COAD - Colon adenocarcinoma(12;0.0831)			TCTCTGCCTTCCTGGAGCAGC	0.682													21	51					0	0	1	0	0	T	3129912	C	T	3129912	2	4	239	1	0	0	0	0	0	0	0	1	15800	854	30	2		2	TEAD4	12	3129912	Silent	SNP	C	TCGA-HT-7478-01A-11D-2024-08		3129912	130721983	20	26762											
RAB15	376267	broad.mit.edu	37	14	65417123	65417123	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-7478-01A-11D-2024-08	TCGA-HT-7478-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ded8014c-bb43-4e2b-af8e-0975936031c3	ceb62f6b-8044-4a7b-97f9-da9ad10c8021	g.chr14:65417123C>G	ENST00000533601.2	-	5	671	c.334G>C	c.(334-336)Gaa>Caa	p.E112Q	FNTB_ENST00000542227.1_Intron|FNTB_ENST00000447296.2_Intron|RAB15_ENST00000426039.3_Missense_Mutation_p.E66Q|RAB15_ENST00000267512.5_Missense_Mutation_p.Q155H|RAB15_ENST00000436278.2_3'UTR|CHURC1-FNTB_ENST00000549987.1_Intron			P59190	RAB15_HUMAN	RAB15, member RAS oncogene family	112					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding			endometrium(1)|large_intestine(2)|lung(4)|ovary(1)	8				all cancers(60;0.00136)|OV - Ovarian serous cystadenocarcinoma(108;0.00593)|BRCA - Breast invasive adenocarcinoma(234;0.0102)		TGGACGCCTTCTGGTGCGTAC	0.567													19	141					0	0	1	0	0	G	65417123	C	G	65417123	3	3	239	1	0	0	0	0	1	0	0	0	12953	912	32	4	173	4	RAB15	14	65417123	Missense_Mutation	SNP	C	TCGA-HT-7478-01A-11D-2024-08		65417123	41932417	21	26763											
UNC13C	440279	broad.mit.edu	37	15	54306802	54306802	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HT-7478-01A-11D-2024-08	TCGA-HT-7478-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ded8014c-bb43-4e2b-af8e-0975936031c3	ceb62f6b-8044-4a7b-97f9-da9ad10c8021	g.chr15:54306802C>T	ENST00000545554.1	+	1	1702	c.1702C>T	c.(1702-1704)Cag>Tag	p.Q568*	UNC13C_ENST00000537900.1_Nonsense_Mutation_p.Q568*|UNC13C_ENST00000260323.11_Nonsense_Mutation_p.Q568*			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	568					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		TTCAGAAAATCAGTTTTTCAC	0.428													12	35					0	0	1	0	0	T	54306802	C	T	54306802	4	4	239	1	0	0	0	0	0	1	0	0	17046	827	29	2	1704	2	UNC13C	15	54306802	Nonsense_Mutation	SNP	C	TCGA-HT-7478-01A-11D-2024-08		54306802	48224590	22	26764											
GNAO1	2775	broad.mit.edu	37	16	56388962	56388962	+	Nonsense_Mutation	SNP	C	C	G			TCGA-HT-7478-01A-11D-2024-08	TCGA-HT-7478-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ded8014c-bb43-4e2b-af8e-0975936031c3	ceb62f6b-8044-4a7b-97f9-da9ad10c8021	g.chr16:56388962C>G	ENST00000262493.6	+	8	1908	c.1062C>G	c.(1060-1062)taC>taG	p.Y354*		NM_020988.2	NP_066268.1	P09471	GNAO_HUMAN	guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O	354					dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|muscle contraction	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|metabotropic serotonin receptor binding|signal transducer activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)	17		all_neural(199;0.159)				GCGGCTTGTACTGACCTCTTG	0.527													18	49					0	0	1	0	0	G	56388962	C	G	56388962	4	3	239	1	0	0	0	0	0	1	0	0	6550	576	20	4	1442	4	GNAO1	16	56388962	Nonsense_Mutation	SNP	C	TCGA-HT-7478-01A-11D-2024-08		56388962	33965791	23	26765											
TP53	7157	broad.mit.edu	37	17	7577120	7577120	+	Missense_Mutation	SNP	C	C	T	rs28934576	by1000genomes	TCGA-HT-7478-01A-11D-2024-08	TCGA-HT-7478-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ded8014c-bb43-4e2b-af8e-0975936031c3	ceb62f6b-8044-4a7b-97f9-da9ad10c8021	g.chr17:7577120C>T	ENST00000420246.2	-	8	950	c.818G>A	c.(817-819)cGt>cAt	p.R273H	TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.R273H|TP53_ENST00000455263.2_Missense_Mutation_p.R273H|TP53_ENST00000445888.2_Missense_Mutation_p.R273H|TP53_ENST00000269305.4_Missense_Mutation_p.R273H	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	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).		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.R273H(521)|p.R273L(93)|p.R273P(32)|p.0?(8)|p.?(2)|p.R273fs*32(2)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273S(1)|p.E258fs*71(1)|p.R273fs*72(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.R273fs*33(1)|p.E271_R273delEVR(1)|p.V272_K292del21(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	0.542	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)			18	13					0	0	1	0	0	T	7577120	C	T	7577120	3	4	239	1	0	0	0	0	1	0	0	0	16442	536	19	1	468	1	TP53	17	7577120	Missense_Mutation	SNP	C	TCGA-HT-7478-01A-11D-2024-08		7577120	73618090	24	26766											
GFAP	2670	broad.mit.edu	37	17	42987529	42987529	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7478-01A-11D-2024-08	TCGA-HT-7478-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ded8014c-bb43-4e2b-af8e-0975936031c3	ceb62f6b-8044-4a7b-97f9-da9ad10c8021	g.chr17:42987529T>C	ENST00000435360.2	-	8	1278	c.1271A>G	c.(1270-1272)aAt>aGt	p.N424S	GFAP_ENST00000588735.1_Intron|GFAP_ENST00000253408.5_Intron	NM_001131019.2|NM_001242376.1	NP_001124491.1|NP_001229305.1	P14136	GFAP_HUMAN	glial fibrillary acidic protein	0	Tail.					cytoplasm|intermediate filament	structural constituent of cytoskeleton			endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(11)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23		Prostate(33;0.0959)				CGGCGTTCCATTTACAATCTG	0.547													25	77					0	0	1	0	0	C	42987529	T	C	42987529	3	2	239	1	0	0	0	0	1	0	0	0	6379	1493	52	3	164	3	GFAP	17	42987529	Missense_Mutation	SNP	T	TCGA-HT-7478-01A-11D-2024-08	35410409	42987529	38207681	25	26767											
MEP1B	4225	broad.mit.edu	37	18	29787227	29787227	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7478-01A-11D-2024-08	TCGA-HT-7478-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ded8014c-bb43-4e2b-af8e-0975936031c3	ceb62f6b-8044-4a7b-97f9-da9ad10c8021	g.chr18:29787227A>G	ENST00000269202.6	+	8	607	c.560A>G	c.(559-561)aAt>aGt	p.N187S	MEP1B_ENST00000581447.1_Missense_Mutation_p.N187S	NM_005925.2	NP_005916.2	Q16820	MEP1B_HUMAN	meprin A, beta	187	Metalloprotease.				digestion|proteolysis	extracellular space|integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						AGAGAGCACAATTTTAACACC	0.333													4	18					0	0	1	0	0	G	29787227	A	G	29787227	3	3	239	1	0	0	0	0	1	0	0	0	9526	101	4	3	590	3	MEP1B	18	29787227	Missense_Mutation	SNP	A	TCGA-HT-7478-01A-11D-2024-08		29787227	48290021	26	26768											
FSD1	79187	broad.mit.edu	37	19	4318904	4318904	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7478-01A-11D-2024-08	TCGA-HT-7478-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ded8014c-bb43-4e2b-af8e-0975936031c3	ceb62f6b-8044-4a7b-97f9-da9ad10c8021	g.chr19:4318904G>A	ENST00000221856.6	+	10	1142	c.995G>A	c.(994-996)cGt>cAt	p.R332H	FSD1_ENST00000598010.1_3'UTR|FSD1_ENST00000597590.1_Missense_Mutation_p.R332H	NM_024333.2	NP_077309.1	Q9BTV5	FSD1_HUMAN	fibronectin type III and SPRY domain containing 1	332	B30.2/SPRY.				cell division|mitosis	cleavage furrow|microtubule|microtubule organizing center|nucleus				breast(2)|cervix(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.034)|STAD - Stomach adenocarcinoma(1328;0.18)		CCCTCAGGTCGTGGGGGACGG	0.597													20	32					0	0	1	0	0	A	4318904	G	A	4318904	3	1	239	1	0	0	0	0	1	0	0	0	6105	1145	40	1	1033	1	FSD1	19	4318904	Missense_Mutation	SNP	G	TCGA-HT-7478-01A-11D-2024-08		4318904	54810079	27	26769											
C19orf66	55337	broad.mit.edu	37	19	10202008	10202008	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7478-01A-11D-2024-08	TCGA-HT-7478-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ded8014c-bb43-4e2b-af8e-0975936031c3	ceb62f6b-8044-4a7b-97f9-da9ad10c8021	g.chr19:10202008C>T	ENST00000397881.3	+	6	791	c.314C>T	c.(313-315)cCg>cTg	p.P105L	C19orf66_ENST00000591813.1_Missense_Mutation_p.P156L|C19orf66_ENST00000253110.11_Missense_Mutation_p.P156L			Q9NUL5	CS066_HUMAN	chromosome 19 open reading frame 66	156										large_intestine(3)|skin(1)	4						TTCCACTGCCCGAAGTGTCGG	0.692													9	21					0	0	1	0	0	T	10202008	C	T	10202008	3	4	239	1	0	0	0	0	1	0	0	0	1958	652	23	1	489	1	C19orf66	19	10202008	Missense_Mutation	SNP	C	TCGA-HT-7478-01A-11D-2024-08	5883104	10202008	48926975	28	26770											
NLRP11	204801	broad.mit.edu	37	19	56321528	56321528	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7478-01A-11D-2024-08	TCGA-HT-7478-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ded8014c-bb43-4e2b-af8e-0975936031c3	ceb62f6b-8044-4a7b-97f9-da9ad10c8021	g.chr19:56321528A>G	ENST00000443188.1	-	5	1158	c.448T>C	c.(448-450)Ttc>Ctc	p.F150L	NLRP11_ENST00000360133.3_Missense_Mutation_p.F150L|NLRP11_ENST00000592953.1_Missense_Mutation_p.F51L|NLRP11_ENST00000589824.2_Missense_Mutation_p.F150L|NLRP11_ENST00000589093.1_Missense_Mutation_p.F150L	NM_145007.3	NP_659444.2	P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	150	NACHT.						ATP binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		CCCATCAGGAACACATTGAGA	0.388													12	32					0	0	1	0	0	G	56321528	A	G	56321528	3	3	239	1	0	0	0	0	1	0	0	0	10520	43	2	3	2685	3	NLRP11	19	56321528	Missense_Mutation	SNP	A	TCGA-HT-7478-01A-11D-2024-08	46119520	56321528	2807455	29	26771											
ZSCAN5A	79149	broad.mit.edu	37	19	56736304	56736304	+	Missense_Mutation	SNP	C	C	T	rs145104621	byFrequency	TCGA-HT-7478-01A-11D-2024-08	TCGA-HT-7478-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ded8014c-bb43-4e2b-af8e-0975936031c3	ceb62f6b-8044-4a7b-97f9-da9ad10c8021	g.chr19:56736304C>T	ENST00000587340.1	-	4	807	c.112G>A	c.(112-114)Gtg>Atg	p.V38M	ZSCAN5A_ENST00000254165.3_Intron|ZSCAN5A_ENST00000587492.1_Intron|ZSCAN5A_ENST00000391713.1_Missense_Mutation_p.V38M|ZSCAN5A_ENST00000592355.1_Missense_Mutation_p.V38M			Q9BUG6	ZSA5A_HUMAN	zinc finger and SCAN domain containing 5A	38					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						TCAGGGTCCACGTCGTGATTT	0.532													14	80					0	0	1	0	0	T	56736304	C	T	56736304	3	4	239	1	0	0	0	0	1	0	0	0	18278	536	19	1	1394	1	ZSCAN5A	19	56736304	Missense_Mutation	SNP	C	TCGA-HT-7478-01A-11D-2024-08	414776	56736304	2392679	30	26772											
RLIM	51132	broad.mit.edu	37	X	73811938	73811938	+	Silent	SNP	G	G	C	rs61754468	by1000genomes	TCGA-HT-7478-01A-11D-2024-08	TCGA-HT-7478-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ded8014c-bb43-4e2b-af8e-0975936031c3	ceb62f6b-8044-4a7b-97f9-da9ad10c8021	g.chrX:73811938G>C	ENST00000332687.6	-	4	1430	c.1212C>G	c.(1210-1212)acC>acG	p.T404T	RLIM_ENST00000349225.2_Silent_p.T404T	NM_016120.3	NP_057204.2	Q9NVW2	RNF12_HUMAN	ring finger protein, LIM domain interacting	404					random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|transcriptional repressor complex	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding	p.T404T(6)		breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GCCTTAACATGGTCTGAATTG	0.413													6	64					0	0	1	0	0	C	73811938	G	C	73811938	2	2	239	1	0	0	0	0	0	0	0	1	13442	1335	47	5		5	RLIM	23	73811938	Silent	SNP	G	TCGA-HT-7478-01A-11D-2024-08		73811938	81458622	31	26773											
ATRX	546	broad.mit.edu	37	X	76813082	76813082	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7478-01A-11D-2024-08	TCGA-HT-7478-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ded8014c-bb43-4e2b-af8e-0975936031c3	ceb62f6b-8044-4a7b-97f9-da9ad10c8021	g.chrX:76813082A>G	ENST00000373344.5	-	30	6753	c.6539T>C	c.(6538-6540)gTa>gCa	p.V2180A	ATRX_ENST00000395603.3_Missense_Mutation_p.V2142A|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	2180	Helicase C-terminal.				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)	CTGCTTAGTTACTTGCCGATC	0.348			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						37	23					0	0	1	0	0	G	76813082	A	G	76813082	3	3	239	1	0	0	0	0	1	0	0	0	1206	391	14	3	963	3	ATRX	23	76813082	Missense_Mutation	SNP	A	TCGA-HT-7478-01A-11D-2024-08	3001144	76813082	78457478	32	26774											
PLCH2	9651	broad.mit.edu	37	1	2415924	2415924	+	Missense_Mutation	SNP	T	T	G			TCGA-HT-7479-01A-11D-2024-08	TCGA-HT-7479-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45da2a7-4b4f-4194-80c1-2b26ceb2f769	bc1d4a60-ad52-4534-9e2f-b5a5208c66a1	g.chr1:2415924T>G	ENST00000449969.1	+	5	763	c.602T>G	c.(601-603)tTt>tGt	p.F201C	PLCH2_ENST00000378488.3_Missense_Mutation_p.F228C|PLCH2_ENST00000378486.3_Missense_Mutation_p.F228C|PLCH2_ENST00000419816.2_Missense_Mutation_p.F228C|PLCH2_ENST00000288766.5_Intron			O75038	PLCH2_HUMAN	phospholipase C, eta 2	228	EF-hand 1.				intracellular signal transduction|lipid catabolic process	cytoplasm|plasma membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(3)|skin(1)	20	all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2)		ACGCTGGGTTTTGAAGAGTTC	0.602													8	26					0	0	1	0	0	G	2415924	T	G	2415924	3	3	240	1	0	0	0	0	1	0	0	0	12086	1841	64	5	701	5	PLCH2	1	2415924	Missense_Mutation	SNP	T	TCGA-HT-7479-01A-11D-2024-08		2415924	246834697	1	26775											
OR6K2	81448	broad.mit.edu	37	1	158670418	158670418	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7479-01A-11D-2024-08	TCGA-HT-7479-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45da2a7-4b4f-4194-80c1-2b26ceb2f769	bc1d4a60-ad52-4534-9e2f-b5a5208c66a1	g.chr1:158670418T>C	ENST00000359610.2	-	1	68	c.25A>G	c.(25-27)Att>Gtt	p.I9V		NM_001005279.1	NP_001005279.1	Q8NGY2	OR6K2_HUMAN	olfactory receptor, family 6, subfamily K, member 2	9					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	46	all_hematologic(112;0.0378)					AACTCCTGAATGGTGGTTCGA	0.433													15	64					0	0	1	0	0	C	158670418	T	C	158670418	3	2	240	1	0	0	0	0	1	0	0	0	11249	1464	51	3	953	3	OR6K2	1	158670418	Missense_Mutation	SNP	T	TCGA-HT-7479-01A-11D-2024-08	156254494	158670418	90580203	2	26776											
MYT1L	23040	broad.mit.edu	37	2	1906994	1906994	+	Silent	SNP	C	C	T			TCGA-HT-7479-01A-11D-2024-08	TCGA-HT-7479-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45da2a7-4b4f-4194-80c1-2b26ceb2f769	bc1d4a60-ad52-4534-9e2f-b5a5208c66a1	g.chr2:1906994C>T	ENST00000399161.2	-	14	2637	c.1890G>A	c.(1888-1890)ccG>ccA	p.P630P	MYT1L_ENST00000428368.2_Silent_p.P628P	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	630					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		GGTTGGAACGCGGCGTAGTTG	0.468													12	30					0	0	1	0	0	T	1906994	C	T	1906994	2	4	240	1	0	0	0	0	0	0	0	1	10155	755	27	1		1	MYT1L	2	1906994	Silent	SNP	C	TCGA-HT-7479-01A-11D-2024-08		1906994	241292379	3	26777											
ZNF638	27332	broad.mit.edu	37	2	71576853	71576853	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7479-01A-11D-2024-08	TCGA-HT-7479-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45da2a7-4b4f-4194-80c1-2b26ceb2f769	bc1d4a60-ad52-4534-9e2f-b5a5208c66a1	g.chr2:71576853G>A	ENST00000409544.1	+	2	1399	c.769G>A	c.(769-771)Gtg>Atg	p.V257M	ZNF638_ENST00000377802.2_Missense_Mutation_p.V257M|ZNF638_ENST00000410075.1_3'UTR|ZNF638_ENST00000264447.4_Missense_Mutation_p.V257M|ZNF638_ENST00000355812.3_Missense_Mutation_p.V257M	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638	257					RNA splicing	cytoplasm|nuclear speck	double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						CAATCCAAATGTGATATGTAA	0.408													8	149					0	0	1	0	0	A	71576853	G	A	71576853	3	1	240	1	0	0	0	0	1	0	0	0	18112	1377	48	2	771	2	ZNF638	2	71576853	Missense_Mutation	SNP	G	TCGA-HT-7479-01A-11D-2024-08	69669859	71576853	171622520	4	26778											
MOGS	7841	broad.mit.edu	37	2	74688527	74688527	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7479-01A-11D-2024-08	TCGA-HT-7479-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45da2a7-4b4f-4194-80c1-2b26ceb2f769	bc1d4a60-ad52-4534-9e2f-b5a5208c66a1	g.chr2:74688527G>A	ENST00000233616.4	-	4	2551	c.2389C>T	c.(2389-2391)Cgc>Tgc	p.R797C	MOGS_ENST00000452063.2_Missense_Mutation_p.R691C|MOGS_ENST00000409065.1_3'UTR	NM_006302.2	NP_006293.2	Q13724	MOGS_HUMAN	mannosyl-oligosaccharide glucosidase	797					oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane|membrane fraction	mannosyl-oligosaccharide glucosidase activity			cervix(1)|endometrium(6)|large_intestine(3)|lung(10)|prostate(1)|urinary_tract(2)	23						TGGTACTGGCGCCATACATTG	0.622													26	75					0	0	1	0	0	A	74688527	G	A	74688527	3	1	240	1	0	0	0	0	1	0	0	0	9746	1087	38	1	128	1	MOGS	2	74688527	Missense_Mutation	SNP	G	TCGA-HT-7479-01A-11D-2024-08	3111674	74688527	168510846	5	26779											
IDH1	3417	broad.mit.edu	37	2	209113113	209113113	+	Missense_Mutation	SNP	G	G	A	rs121913499		TCGA-HT-7479-01A-11D-2024-08	TCGA-HT-7479-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45da2a7-4b4f-4194-80c1-2b26ceb2f769	bc1d4a60-ad52-4534-9e2f-b5a5208c66a1	g.chr2:209113113G>A	ENST00000415913.1	-	4	775	c.394C>T	c.(394-396)Cgt>Tgt	p.R132C	IDH1_ENST00000345146.2_Missense_Mutation_p.R132C|IDH1_ENST00000446179.1_Missense_Mutation_p.R132C	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		TAAGCATGACGACCTATGATG	0.398			Mis		gliobastoma								20	54					0	0	1	0	0	A	209113113	G	A	209113113	3	1	240	1	0	0	0	0	1	0	0	0	7538	1058	37	1	878	1	IDH1	2	209113113	Missense_Mutation	SNP	G	TCGA-HT-7479-01A-11D-2024-08	134424586	209113113	34086260	6	26780											
CASR	846	broad.mit.edu	37	3	122003874	122003874	+	Missense_Mutation	SNP	C	C	A			TCGA-HT-7479-01A-11D-2024-08	TCGA-HT-7479-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45da2a7-4b4f-4194-80c1-2b26ceb2f769	bc1d4a60-ad52-4534-9e2f-b5a5208c66a1	g.chr3:122003874C>A	ENST00000498619.1	+	7	3541	c.3103C>A	c.(3103-3105)Ctg>Atg	p.L1035M	CASR_ENST00000490131.1_Missense_Mutation_p.L1025M|CASR_ENST00000296154.5_Missense_Mutation_p.L1025M	NM_001178065.1	NP_001171536	P41180	CASR_HUMAN	calcium-sensing receptor	1025					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	GGACTTAGATCTGACCGTCCA	0.592													22	57					1.2644e-06	1.47838e-06	1	1	0	A	122003874	C	A	122003874	3	1	240	1	0	0	0	0	1	0	0	0	2700	912	32	4	3125	4	CASR	3	122003874	Missense_Mutation	SNP	C	TCGA-HT-7479-01A-11D-2024-08		122003874	76018556	7	26781											
PDGFRA	5156	broad.mit.edu	37	4	55152040	55152040	+	Silent	SNP	C	C	T	rs2228230	byFrequency	TCGA-HT-7479-01A-11D-2024-08	TCGA-HT-7479-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45da2a7-4b4f-4194-80c1-2b26ceb2f769	bc1d4a60-ad52-4534-9e2f-b5a5208c66a1	g.chr4:55152040C>T	ENST00000257290.5	+	18	2803	c.2472C>T	c.(2470-2472)gtC>gtT	p.V824V	FIP1L1_ENST00000507166.1_Silent_p.V584V	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	824	Protein kinase.				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity	p.V824V(15)		NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	CTCGCAACGTCCTCCTGGCAC	0.498			"Mis, O, T"	FIP1L1	"GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			7	128					0	0	1	0	0	T	55152040	C	T	55152040	2	4	240	1	0	0	0	0	0	0	0	1	11708	842	30	2		2	PDGFRA	4	55152040	Silent	SNP	C	TCGA-HT-7479-01A-11D-2024-08		55152040	136002236	8	26782											
FRAS1	80144	broad.mit.edu	37	4	79428637	79428637	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7479-01A-11D-2024-08	TCGA-HT-7479-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45da2a7-4b4f-4194-80c1-2b26ceb2f769	bc1d4a60-ad52-4534-9e2f-b5a5208c66a1	g.chr4:79428637T>C	ENST00000264895.6	+	62	9819	c.9379T>C	c.(9379-9381)Tct>Cct	p.S3127P		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	3122	Calx-beta 5.				cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						ATGGCATGAATCTTTCTCACT	0.488													4	33					0	0	1	0	0	C	79428637	T	C	79428637	3	2	240	1	0	0	0	0	1	0	0	0	6076	1435	50	3	9700	3	FRAS1	4	79428637	Missense_Mutation	SNP	T	TCGA-HT-7479-01A-11D-2024-08	24276597	79428637	111725639	9	26783											
PCDHGB3	56102	broad.mit.edu	37	5	140750527	140750527	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-7479-01A-11D-2024-08	TCGA-HT-7479-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45da2a7-4b4f-4194-80c1-2b26ceb2f769	bc1d4a60-ad52-4534-9e2f-b5a5208c66a1	g.chr5:140750527G>T	ENST00000576222.1	+	1	697	c.566G>T	c.(565-567)aGt>aTt	p.S189I	PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGGATGGCAGTAGGTACCCA	0.557													34	127					1.74807e-11	2.07583e-11	1	1	0	T	140750527	G	T	140750527	3	4	240	1	0	0	0	0	1	0	0	0	11611	1029	36	4	568	4	PCDHGB3	5	140750527	Missense_Mutation	SNP	G	TCGA-HT-7479-01A-11D-2024-08		140750527	40164733	10	26784											
ZNF300	91975	broad.mit.edu	37	5	150275093	150275093	+	Missense_Mutation	SNP	T	T	A			TCGA-HT-7479-01A-11D-2024-08	TCGA-HT-7479-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45da2a7-4b4f-4194-80c1-2b26ceb2f769	bc1d4a60-ad52-4534-9e2f-b5a5208c66a1	g.chr5:150275093T>A	ENST00000446148.2	-	7	2183	c.1756A>T	c.(1756-1758)Att>Ttt	p.I586F	ZNF300_ENST00000418587.2_Missense_Mutation_p.I534F|ZNF300_ENST00000274599.5_Missense_Mutation_p.I570F|ZNF300_ENST00000427179.1_3'UTR|ZNF300_ENST00000394226.2_Missense_Mutation_p.I570F	NM_001172831.1	NP_001166302.1	Q96RE9	ZN300_HUMAN	zinc finger protein 300	570					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)	27		Medulloblastoma(196;0.109)|all_hematologic(541;0.131)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCAGTATGAATCCTCTGATGT	0.438													20	60					0	0	1	0	0	A	150275093	T	A	150275093	3	1	240	1	0	0	0	0	1	0	0	0	17888	1435	50	4	110	4	ZNF300	5	150275093	Missense_Mutation	SNP	T	TCGA-HT-7479-01A-11D-2024-08	9524566	150275093	30640167	11	26785											
RREB1	6239	broad.mit.edu	37	6	7229937	7229937	+	Silent	SNP	G	G	T			TCGA-HT-7479-01A-11D-2024-08	TCGA-HT-7479-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45da2a7-4b4f-4194-80c1-2b26ceb2f769	bc1d4a60-ad52-4534-9e2f-b5a5208c66a1	g.chr6:7229937G>T	ENST00000379938.2	+	10	2142	c.1605G>T	c.(1603-1605)ccG>ccT	p.P535P	RREB1_ENST00000349384.6_Silent_p.P535P|RREB1_ENST00000334984.6_Silent_p.P535P|RREB1_ENST00000379933.3_Silent_p.P535P	NM_001003699.3|NM_001003700.1	NP_001003699.1|NP_001003700.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	535	Pro-rich.				multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				AGGCTTCCCCGGGCTGTATCA	0.682													31	103					5.60225e-13	6.75827e-13	1	1	0	T	7229937	G	T	7229937	2	4	240	1	0	0	0	0	0	0	0	1	13731	1103	39	5		5	RREB1	6	7229937	Silent	SNP	G	TCGA-HT-7479-01A-11D-2024-08		7229937	163885130	12	26786											
TIGD5	84948	broad.mit.edu	37	8	144681130	144681130	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-7479-01A-11D-2024-08	TCGA-HT-7479-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45da2a7-4b4f-4194-80c1-2b26ceb2f769	bc1d4a60-ad52-4534-9e2f-b5a5208c66a1	g.chr8:144681130G>T	ENST00000504548.2	+	1	1057	c.1057G>T	c.(1057-1059)Gcc>Tcc	p.A353S	TIGD5_ENST00000321385.3_Missense_Mutation_p.A304S	NM_032862.4	NP_116251.4	E7EWS2	E7EWS2_HUMAN	tigger transposable element derived 5	353					regulation of transcription, DNA-dependent	chromosome, centromeric region	DNA binding			NS(1)|lung(3)|ovary(1)|soft_tissue(1)|urinary_tract(1)	7	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)			GCAGCAGAAGGCCGTGCTGCT	0.701													6	13					1	1	1	1	0	T	144681130	G	T	144681130	3	4	240	1	0	0	0	0	1	0	0	0	15959	1203	42	5	1059	5	TIGD5	8	144681130	Missense_Mutation	SNP	G	TCGA-HT-7479-01A-11D-2024-08		144681130	1682892	13	26787											
TUBB8	347688	broad.mit.edu	37	10	93136	93136	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7479-01A-11D-2024-08	TCGA-HT-7479-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45da2a7-4b4f-4194-80c1-2b26ceb2f769	bc1d4a60-ad52-4534-9e2f-b5a5208c66a1	g.chr10:93136G>A	ENST00000447903.2	-	4	1295	c.980C>T	c.(979-981)aCg>aTg	p.T327M	TUBB8_ENST00000309812.4_Missense_Mutation_p.T399M			Q3ZCM7	TBB8_HUMAN	tubulin, beta 8 class VIII	399					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			NS(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(3)|stomach(1)	32		all_cancers(4;0.00131)|all_lung(4;0.000777)|Lung NSC(4;0.0043)|all_epithelial(10;0.0154)|Colorectal(49;0.235)		Epithelial(11;0.00341)|all cancers(11;0.00922)|OV - Ovarian serous cystadenocarcinoma(14;0.0508)|Lung(33;0.132)		GCCCTCGCCCGTGTACCAGTG	0.532													13	94					0	0	1	0	0	A	93136	G	A	93136	3	1	240	1	0	0	0	0	1	0	0	0	16823	1145	40	1	142	1	TUBB8	10	93136	Missense_Mutation	SNP	G	TCGA-HT-7479-01A-11D-2024-08		93136	135441611	14	26788											
OCA2	4948	broad.mit.edu	37	15	28171297	28171297	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HT-7479-01A-11D-2024-08	TCGA-HT-7479-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45da2a7-4b4f-4194-80c1-2b26ceb2f769	bc1d4a60-ad52-4534-9e2f-b5a5208c66a1	g.chr15:28171297delA	ENST00000354638.3	-	19	2210	c.2055delT	c.(2053-2055)tttfs	p.F685fs	OCA2_ENST00000353809.5_Frame_Shift_Del_p.F661fs	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II	685					eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		AGAGCGCTGCAAAAAACAGAA	0.363									Oculocutaneous Albinism				19	64	---	---	---	---						-	28171297	A	-	28171297	7	5	240	1	0	1	0	1	0	0	0	0	10863	127	5	0	485	0	OCA2	15	28171297	Frame_Shift_Del	DEL	A	TCGA-HT-7479-01A-11D-2024-08		28171297	74360095	15	26789											
TP53	7157	broad.mit.edu	37	17	7578413	7578413	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7479-01A-11D-2024-08	TCGA-HT-7479-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45da2a7-4b4f-4194-80c1-2b26ceb2f769	bc1d4a60-ad52-4534-9e2f-b5a5208c66a1	g.chr17:7578413C>T	ENST00000420246.2	-	5	649	c.517G>A	c.(517-519)Gtg>Atg	p.V173M	TP53_ENST00000413465.2_Missense_Mutation_p.V173M|TP53_ENST00000455263.2_Missense_Mutation_p.V173M|TP53_ENST00000269305.4_Missense_Mutation_p.V173M|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000445888.2_Missense_Mutation_p.V173M|TP53_ENST00000359597.4_Missense_Mutation_p.V173M	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	173	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		V -> A (in sporadic cancers; somatic mutation).|V -> E (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).|V -> M (in LFS; germline mutation and in sporadic cancers; somatic mutation).|V -> W (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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.V173L(68)|p.V173M(46)|p.0?(8)|p.V80L(6)|p.V41L(6)|p.V173fs*1(4)|p.V80M(3)|p.V41M(3)|p.V173fs*59(2)|p.V157_C176del20(1)|p.V172_R174delVVR(1)|p.V173fs*69(1)|p.P151_V173del23(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.E171fs*1(1)|p.V173W(1)|p.V173fs*8(1)|p.H168fs*69(1)|p.E171_H179delEVVRRCPHH(1)|p.S149fs*72(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)		CAGCGCCTCACAACCTCCGTC	0.662		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)			31	27					0	0	1	0	0	T	7578413	C	T	7578413	3	4	240	1	0	0	0	0	1	0	0	0	16442	478	17	2	781	2	TP53	17	7578413	Missense_Mutation	SNP	C	TCGA-HT-7479-01A-11D-2024-08		7578413	73616797	16	26790											
KRT38	8687	broad.mit.edu	37	17	39596991	39596991	+	Silent	SNP	G	G	A			TCGA-HT-7479-01A-11D-2024-08	TCGA-HT-7479-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45da2a7-4b4f-4194-80c1-2b26ceb2f769	bc1d4a60-ad52-4534-9e2f-b5a5208c66a1	g.chr17:39596991G>A	ENST00000246646.3	-	1	182	c.183C>T	c.(181-183)ccC>ccT	p.P61P		NM_006771.3	NP_006762.3	O76015	KRT38_HUMAN	keratin 38	61	Head.					intermediate filament	structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	29		Breast(137;0.000496)				GGCGGCCCAGGGGAGTGGACC	0.637													6	78					0	0	1	0	0	A	39596991	G	A	39596991	2	1	240	1	0	0	0	0	0	0	0	1	8518	1219	43	2		2	KRT38	17	39596991	Silent	SNP	G	TCGA-HT-7479-01A-11D-2024-08	32018578	39596991	41598219	17	26791											
TTYH2	94015	broad.mit.edu	37	17	72233513	72233513	+	Silent	SNP	C	C	T			TCGA-HT-7479-01A-11D-2024-08	TCGA-HT-7479-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45da2a7-4b4f-4194-80c1-2b26ceb2f769	bc1d4a60-ad52-4534-9e2f-b5a5208c66a1	g.chr17:72233513C>T	ENST00000269346.4	+	4	569	c.495C>T	c.(493-495)ggC>ggT	p.G165G	TTYH2_ENST00000529107.1_Silent_p.G144G	NM_032646.5	NP_116035.5	Q9BSA4	TTYH2_HUMAN	tweety family member 2	165						chloride channel complex|plasma membrane	chloride channel activity|protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(14)|ovary(3)|pancreas(1)|stomach(3)|upper_aerodigestive_tract(1)	36						CTGCCCGGGGCGATTACCTGC	0.597													19	61					0	0	1	0	0	T	72233513	C	T	72233513	2	4	240	1	0	0	0	0	0	0	0	1	16802	755	27	1		1	TTYH2	17	72233513	Silent	SNP	C	TCGA-HT-7479-01A-11D-2024-08	32636522	72233513	8961697	18	26792											
OTOP2	92736	broad.mit.edu	37	17	72923807	72923807	+	Missense_Mutation	SNP	C	C	A			TCGA-HT-7479-01A-11D-2024-08	TCGA-HT-7479-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45da2a7-4b4f-4194-80c1-2b26ceb2f769	bc1d4a60-ad52-4534-9e2f-b5a5208c66a1	g.chr17:72923807C>A	ENST00000331427.4	+	5	649	c.557C>A	c.(556-558)gCg>gAg	p.A186E	OTOP2_ENST00000580223.1_Missense_Mutation_p.A186E	NM_178160.2	NP_835454.1	Q7RTS6	OTOP2_HUMAN	otopetrin 2	186						integral to membrane		p.A186V(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|prostate(4)|skin(1)|urinary_tract(2)	39	all_lung(278;0.172)|Lung NSC(278;0.207)					ATCTGGATGGCGGCCGTGGTG	0.577													4	43					0.00909568	0.009601	1	1	0	A	72923807	C	A	72923807	3	1	240	1	0	0	0	0	1	0	0	0	11353	768	27	5	571	5	OTOP2	17	72923807	Missense_Mutation	SNP	C	TCGA-HT-7479-01A-11D-2024-08	690294	72923807	8271403	19	26793											
PLVAP	83483	broad.mit.edu	37	19	17487967	17487967	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7479-01A-11D-2024-08	TCGA-HT-7479-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45da2a7-4b4f-4194-80c1-2b26ceb2f769	bc1d4a60-ad52-4534-9e2f-b5a5208c66a1	g.chr19:17487967A>G	ENST00000252590.4	-	1	192	c.131T>C	c.(130-132)gTg>gCg	p.V44A		NM_031310.1	NP_112600.1	Q9BX97	PLVAP_HUMAN	plasmalemma vesicle associated protein	44						caveola|integral to membrane|perinuclear region of cytoplasm				cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CATGAAGAGCACGAGCCCCAG	0.612													19	53					0	0	1	0	0	G	17487967	A	G	17487967	3	3	240	1	0	0	0	0	1	0	0	0	12164	159	6	3	1221	3	PLVAP	19	17487967	Missense_Mutation	SNP	A	TCGA-HT-7479-01A-11D-2024-08		17487967	41641016	20	26794											
ZNF320	162967	broad.mit.edu	37	19	53384195	53384195	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HT-7479-01A-11D-2024-08	TCGA-HT-7479-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45da2a7-4b4f-4194-80c1-2b26ceb2f769	bc1d4a60-ad52-4534-9e2f-b5a5208c66a1	g.chr19:53384195delC	ENST00000595635.1	-	8	1685	c.1184delG	c.(1183-1185)agtfs	p.S395fs	ZNF320_ENST00000597909.1_Intron|ZNF320_ENST00000600930.1_Intron|ZNF320_ENST00000391781.2_Frame_Shift_Del_p.S395fs	NM_207333.2	NP_997216.2	A2RRD8	ZN320_HUMAN	zinc finger protein 320	395					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(4)|large_intestine(5)|liver(1)|lung(10)|urinary_tract(1)	24				GBM - Glioblastoma multiforme(134;0.0534)		CGCTTTTGTACTAAAAACCTT	0.403													38	104	---	---	---	---						-	53384195	C	-	53384195	7	5	240	1	0	1	0	1	0	0	0	0	17896	565	20	0	349	0	ZNF320	19	53384195	Frame_Shift_Del	DEL	C	TCGA-HT-7479-01A-11D-2024-08	35896228	53384195	5744788	21	26795											
KRTAP10-8	386681	broad.mit.edu	37	21	46032549	46032549	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7479-01A-11D-2024-08	TCGA-HT-7479-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45da2a7-4b4f-4194-80c1-2b26ceb2f769	bc1d4a60-ad52-4534-9e2f-b5a5208c66a1	g.chr21:46032549C>T	ENST00000334662.2	+	1	554	c.532C>T	c.(532-534)Cct>Tct	p.P178S	TSPEAR_ENST00000323084.4_Intron	NM_198695.2	NP_941968.2	P60410	KR108_HUMAN	keratin associated protein 10-8	178	19 X 5 AA repeats of C-C-X(3).					keratin filament				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	17						CTGCTGTGTGCCTGTCTGCTC	0.622													10	246					0	0	1	0	0	T	46032549	C	T	46032549	3	4	240	1	0	0	0	0	1	0	0	0	8558	739	26	2	534	2	KRTAP10-8	21	46032549	Missense_Mutation	SNP	C	TCGA-HT-7479-01A-11D-2024-08		46032549	2097346	22	26796											
ASPHD2	57168	broad.mit.edu	37	22	26829961	26829961	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7479-01A-11D-2024-08	TCGA-HT-7479-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45da2a7-4b4f-4194-80c1-2b26ceb2f769	bc1d4a60-ad52-4534-9e2f-b5a5208c66a1	g.chr22:26829961A>G	ENST00000215906.5	+	2	818	c.380A>G	c.(379-381)tAc>tGc	p.Y127C		NM_020437.4	NP_065170.2	Q6ICH7	ASPH2_HUMAN	aspartate beta-hydroxylase domain containing 2	127					peptidyl-amino acid modification	integral to endoplasmic reticulum membrane	oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity			endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(4)|urinary_tract(1)	16						CAGAAGCTGTACCACAACCTG	0.652													12	39					0	0	1	0	0	G	26829961	A	G	26829961	3	3	240	1	0	0	0	0	1	0	0	0	1054	391	14	3	382	3	ASPHD2	22	26829961	Missense_Mutation	SNP	A	TCGA-HT-7479-01A-11D-2024-08		26829961	24474605	23	26797											
FAM47A	158724	broad.mit.edu	37	X	34149060	34149060	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-7479-01A-11D-2024-08	TCGA-HT-7479-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45da2a7-4b4f-4194-80c1-2b26ceb2f769	bc1d4a60-ad52-4534-9e2f-b5a5208c66a1	g.chrX:34149060C>G	ENST00000346193.3	-	1	1387	c.1336G>C	c.(1336-1338)Gag>Cag	p.E446Q		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	446										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						ACCCGGGCCTCACAACGATCC	0.557													17	19					0	0	1	0	0	G	34149060	C	G	34149060	3	3	240	1	0	0	0	0	1	0	0	0	5605	835	29	5	1043	5	FAM47A	23	34149060	Missense_Mutation	SNP	C	TCGA-HT-7479-01A-11D-2024-08		34149060	121121500	24	26798											
HNRNPCL1	343069	broad.mit.edu	37	1	12907458	12907458	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7480-01A-11D-2086-08	TCGA-HT-7480-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b0a47b5-0913-43b0-8508-71641e8d0521	c8ab24ab-a8ec-454b-9f9b-056ec420144b	g.chr1:12907458T>C	ENST00000317869.6	-	2	910	c.685A>G	c.(685-687)Atg>Gtg	p.M229V		NM_001013631.1|NM_001136561.2|NM_001146181.1	NP_001013653.1|NP_001130033.2|NP_001139653.1			heterogeneous nuclear ribonucleoprotein C-like 1											NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2)	29						TCTTTCTTCATGGAGCTACTG	0.458													4	82					0	0	1	0	0	C	12907458	T	C	12907458	3	2	241	1	0	0	0	0	1	0	0	0	7304	1464	51	3	198	3	HNRNPCL1	1	12907458	Missense_Mutation	SNP	T	TCGA-HT-7480-01A-11D-2086-08		12907458	236343163	1	26799											
PEF1	553115	broad.mit.edu	37	1	32101082	32101082	+	Silent	SNP	C	C	T			TCGA-HT-7480-01A-11D-2086-08	TCGA-HT-7480-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b0a47b5-0913-43b0-8508-71641e8d0521	c8ab24ab-a8ec-454b-9f9b-056ec420144b	g.chr1:32101082C>T	ENST00000373703.4	-	2	88	c.66G>A	c.(64-66)ccG>ccA	p.P22P	PEF1_ENST00000440872.2_Silent_p.P22P|PEF1_ENST00000492061.1_5'UTR	NM_012392.3	NP_036524.1	Q9UBV8	PEF1_HUMAN	penta-EF-hand domain containing 1	22	9 X 9 AA approximate tandem repeat of [AP]-P-G-G-P-Y-G-G-P-P.				response to calcium ion	cytoplasm|membrane	calcium ion binding|protein heterodimerization activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|prostate(2)|upper_aerodigestive_tract(1)	7		Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)|all_neural(195;0.186)		STAD - Stomach adenocarcinoma(196;0.0546)		AGTAGCTACCCGGAGGGGCTC	0.597													3	12					0	0	1	0	0	T	32101082	C	T	32101082	2	4	241	1	0	0	0	0	0	0	0	1	11765	639	23	1		1	PEF1	1	32101082	Silent	SNP	C	TCGA-HT-7480-01A-11D-2086-08	19193624	32101082	217149539	2	26800											
NPR1	4881	broad.mit.edu	37	1	153655965	153655965	+	Silent	SNP	C	C	T	rs142090901	byFrequency	TCGA-HT-7480-01A-11D-2086-08	TCGA-HT-7480-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b0a47b5-0913-43b0-8508-71641e8d0521	c8ab24ab-a8ec-454b-9f9b-056ec420144b	g.chr1:153655965C>T	ENST00000368680.3	+	6	1849	c.1377C>T	c.(1375-1377)aaC>aaT	p.N459N		NM_000906.3	NP_000897.3	P16066	ANPRA_HUMAN	natriuretic peptide receptor A/guanylate cyclase A (atrionatriuretic peptide receptor A)	459					body fluid secretion|intracellular signal transduction|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation		ATP binding|GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|peptide receptor activity, G-protein coupled|protein kinase activity	p.N459N(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)		Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Nesiritide(DB04899)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)|Nitroprusside(DB00325)	GCTTTGACAACGAAGACCCAG	0.587													25	110					0	0	1	0	0	T	153655965	C	T	153655965	2	4	241	1	0	0	0	0	0	0	0	1	10642	535	19	1		1	NPR1	1	153655965	Silent	SNP	C	TCGA-HT-7480-01A-11D-2086-08	121554883	153655965	95594656	3	26801											
CD244	51744	broad.mit.edu	37	1	160811091	160811091	+	Silent	SNP	G	G	A			TCGA-HT-7480-01A-11D-2086-08	TCGA-HT-7480-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b0a47b5-0913-43b0-8508-71641e8d0521	c8ab24ab-a8ec-454b-9f9b-056ec420144b	g.chr1:160811091G>A	ENST00000368034.4	-	3	741	c.564C>T	c.(562-564)ggC>ggT	p.G188G	CD244_ENST00000368032.2_Silent_p.G188G|CD244_ENST00000322302.7_Intron|CD244_ENST00000368033.3_Silent_p.G193G	NM_001166663.1|NM_001166664.1|NM_016382.3	NP_001160135.1|NP_001160136.1|NP_057466.1	Q9BZW8	CD244_HUMAN	CD244 molecule, natural killer cell receptor 2B4	193	Ig-like 2.				blood coagulation|leukocyte migration	integral to membrane|plasma membrane	protein binding|receptor activity			central_nervous_system(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1)	18	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			ATGTGTGAGTGCCATTAATGT	0.517													28	123					0	0	1	0	0	A	160811091	G	A	160811091	2	1	241	1	0	0	0	0	0	0	0	1	3009	1306	46	2		2	CD244	1	160811091	Silent	SNP	G	TCGA-HT-7480-01A-11D-2086-08	7155126	160811091	88439530	4	26802											
SLC26A9	115019	broad.mit.edu	37	1	205897099	205897099	+	Silent	SNP	G	G	A			TCGA-HT-7480-01A-11D-2086-08	TCGA-HT-7480-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b0a47b5-0913-43b0-8508-71641e8d0521	c8ab24ab-a8ec-454b-9f9b-056ec420144b	g.chr1:205897099G>A	ENST00000367135.3	-	9	1145	c.1032C>T	c.(1030-1032)agC>agT	p.S344S	SLC26A9_ENST00000367134.2_Silent_p.S344S|SLC26A9_ENST00000340781.4_Silent_p.S344S	NM_052934.3	NP_443166.1	Q7LBE3	S26A9_HUMAN	solute carrier family 26 (anion exchanger), member 9	344						integral to membrane	chloride channel activity|secondary active sulfate transmembrane transporter activity			NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5)	52	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0458)			TGATGACGTAGCTCACGATGG	0.632													10	73					0	0	1	0	0	A	205897099	G	A	205897099	2	1	241	1	0	0	0	0	0	0	0	1	14579	962	34	2		2	SLC26A9	1	205897099	Silent	SNP	G	TCGA-HT-7480-01A-11D-2086-08	45086008	205897099	43353522	5	26803											
TMEM17	200728	broad.mit.edu	37	2	62733243	62733243	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7480-01A-11D-2086-08	TCGA-HT-7480-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b0a47b5-0913-43b0-8508-71641e8d0521	c8ab24ab-a8ec-454b-9f9b-056ec420144b	g.chr2:62733243G>A	ENST00000335390.5	-	1	233	c.22C>T	c.(22-24)Cgc>Tgc	p.R8C		NM_198276.2	NP_938017.2	Q86X19	TMM17_HUMAN	transmembrane protein 17	8						integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	9	Lung NSC(7;0.0274)|all_lung(7;0.0568)		LUSC - Lung squamous cell carcinoma(7;1.31e-05)|Epithelial(17;0.169)			AGCCGCTGGCGCACCGGATCC	0.672													3	22					0	0	1	0	0	A	62733243	G	A	62733243	3	1	241	1	0	0	0	0	1	0	0	0	16145	1087	38	1	590	1	TMEM17	2	62733243	Missense_Mutation	SNP	G	TCGA-HT-7480-01A-11D-2086-08		62733243	180466130	6	26804											
AFTPH	54812	broad.mit.edu	37	2	64779134	64779134	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HT-7480-01A-11D-2086-08	TCGA-HT-7480-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b0a47b5-0913-43b0-8508-71641e8d0521	c8ab24ab-a8ec-454b-9f9b-056ec420144b	g.chr2:64779134delC	ENST00000422803.1	+	2	840	c.526delC	c.(526-528)cctfs	p.P177fs	AFTPH_ENST00000409933.1_Frame_Shift_Del_p.P177fs|AFTPH_ENST00000238856.4_Frame_Shift_Del_p.P177fs|AFTPH_ENST00000238855.7_Frame_Shift_Del_p.P177fs			Q6ULP2	AFTIN_HUMAN	aftiphilin	177					protein transport	AP-1 adaptor complex|cytosol|nucleus	clathrin binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	35						TGGTGAAAAGCCTCCTTGTCT	0.403													18	84	---	---	---	---						-	64779134	C	-	64779134	7	5	241	1	0	1	0	1	0	0	0	0	363	739	26	0	528	0	AFTPH	2	64779134	Frame_Shift_Del	DEL	C	TCGA-HT-7480-01A-11D-2086-08	2045891	64779134	178420239	7	26805											
MCM6	4175	broad.mit.edu	37	2	136626216	136626216	+	Missense_Mutation	SNP	C	C	A			TCGA-HT-7480-01A-11D-2086-08	TCGA-HT-7480-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b0a47b5-0913-43b0-8508-71641e8d0521	c8ab24ab-a8ec-454b-9f9b-056ec420144b	g.chr2:136626216C>A	ENST00000264156.2	-	4	640	c.580G>T	c.(580-582)Gat>Tat	p.D194Y		NM_005915.5	NP_005906.2	Q14566	MCM6_HUMAN	minichromosome maintenance complex component 6	194					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|identical protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(15)|prostate(2)|skin(1)	29				BRCA - Breast invasive adenocarcinoma(221;0.166)	Atorvastatin(DB01076)	TTATTTGTATCCAGTAAGAAT	0.373													5	120					0.0215528	0.0220018	1	1	0	A	136626216	C	A	136626216	3	1	241	1	0	0	0	0	1	0	0	0	9441	855	30	5	1941	5	MCM6	2	136626216	Missense_Mutation	SNP	C	TCGA-HT-7480-01A-11D-2086-08	71847082	136626216	106573157	8	26806											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-HT-7480-01A-11D-2086-08	TCGA-HT-7480-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b0a47b5-0913-43b0-8508-71641e8d0521	c8ab24ab-a8ec-454b-9f9b-056ec420144b	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								36	50					0	0	1	0	0	T	209113112	C	T	209113112	3	4	241	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HT-7480-01A-11D-2086-08	72486896	209113112	34086261	9	26807											
TLR9	54106	broad.mit.edu	37	3	52255381	52255381	+	Missense_Mutation	SNP	C	C	A			TCGA-HT-7480-01A-11D-2086-08	TCGA-HT-7480-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b0a47b5-0913-43b0-8508-71641e8d0521	c8ab24ab-a8ec-454b-9f9b-056ec420144b	g.chr3:52255381C>A	ENST00000597542.1	-	9	3980	c.3023G>T	c.(3022-3024)cGc>cTc	p.R1008L	TLR9_ENST00000494383.1_Silent_p.A1137A|TLR9_ENST00000360658.2_Missense_Mutation_p.R984L			Q9NR96	TLR9_HUMAN	toll-like receptor 9	984	TIR.				defense response to bacterium|fibroblast growth factor receptor signaling pathway|I-kappaB phosphorylation|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin	apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome	interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity			endometrium(4)|large_intestine(11)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Chloroquine(DB00608)	GAGGCGCTGGCGCAGCCGCAC	0.706													5	25					0.014758	0.015386	1	1	0	A	52255381	C	A	52255381	3	1	241	1	0	0	0	0	1	0	0	0	16018	768	27	5	151	5	TLR9	3	52255381	Missense_Mutation	SNP	C	TCGA-HT-7480-01A-11D-2086-08		52255381	145767049	10	26808											
DKK2	27123	broad.mit.edu	37	4	107956682	107956682	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-7480-01A-11D-2086-08	TCGA-HT-7480-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b0a47b5-0913-43b0-8508-71641e8d0521	c8ab24ab-a8ec-454b-9f9b-056ec420144b	g.chr4:107956682C>G	ENST00000285311.3	-	1	772	c.67G>C	c.(67-69)Gtg>Ctg	p.V23L	DKK2_ENST00000510463.1_Intron|DKK2_ENST00000513208.1_Intron	NM_014421.2	NP_055236.1	Q9UBU2	DKK2_HUMAN	dickkopf WNT signaling pathway inhibitor 2	23					multicellular organismal development|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	extracellular space				autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.34e-06)		GAGCTCTCCACCATCAGCACC	0.647													4	165					0	0	1	0	0	G	107956682	C	G	107956682	3	3	241	1	0	0	0	0	1	0	0	0	4573	507	18	5	728	5	DKK2	4	107956682	Missense_Mutation	SNP	C	TCGA-HT-7480-01A-11D-2086-08		107956682	83197594	11	26809											
ENPP3	5169	broad.mit.edu	37	6	132059230	132059230	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HT-7480-01A-11D-2086-08	TCGA-HT-7480-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b0a47b5-0913-43b0-8508-71641e8d0521	c8ab24ab-a8ec-454b-9f9b-056ec420144b	g.chr6:132059230delG	ENST00000414305.1	+	24	2555	c.2227delG	c.(2227-2229)gtafs	p.V743fs	ENPP3_ENST00000357639.3_Frame_Shift_Del_p.V743fs|ENPP3_ENST00000358229.5_3'UTR			O14638	ENPP3_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 3	743	Nuclease.				immune response|nucleoside triphosphate catabolic process|phosphate metabolic process	extracellular region|integral to plasma membrane|perinuclear region of cytoplasm	metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity			NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)		AAGAAATGGAGTAAATGTGGT	0.313													14	49	---	---	---	---						-	132059230	G	-	132059230	7	5	241	1	0	1	0	1	0	0	0	0	5159	1029	36	0	2317	0	ENPP3	6	132059230	Frame_Shift_Del	DEL	G	TCGA-HT-7480-01A-11D-2086-08		132059230	39055837	12	26810											
PDGFA	5154	broad.mit.edu	37	7	540795	540795	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7480-01A-11D-2086-08	TCGA-HT-7480-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b0a47b5-0913-43b0-8508-71641e8d0521	c8ab24ab-a8ec-454b-9f9b-056ec420144b	g.chr7:540795C>T	ENST00000402802.3	-	5	945	c.538G>A	c.(538-540)Gcg>Acg	p.A180T	PDGFA_ENST00000354513.5_Missense_Mutation_p.A180T	NM_033023.4	NP_148983.1	P04085	PDGFA_HUMAN	platelet-derived growth factor alpha polypeptide	180					actin cytoskeleton organization|angiogenesis|cell projection assembly|embryo development|hair follicle development|lung alveolus development|negative chemotaxis|negative regulation of phosphatidylinositol biosynthetic process|negative regulation of platelet activation|organ morphogenesis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of DNA replication|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|positive regulation of MAP kinase activity|positive regulation of mesenchymal cell proliferation|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein autophosphorylation|positive regulation of protein kinase B signaling cascade|regulation of actin cytoskeleton organization|regulation of branching involved in salivary gland morphogenesis by epithelial-mesenchymal signaling|regulation of peptidyl-tyrosine phosphorylation|regulation of smooth muscle cell migration|skin development	cell surface|endoplasmic reticulum lumen|extracellular space|Golgi membrane|microvillus|platelet alpha granule lumen	collagen binding|eukaryotic cell surface binding|growth factor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein heterodimerization activity|protein homodimerization activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	16		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|Epithelial(4;1.1e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.7e-17)|all cancers(6;4.89e-15)		CTTGTGGTCGCGCAGGCGCAC	0.542													14	211					0	0	1	0	0	T	540795	C	T	540795	3	4	241	1	0	0	0	0	1	0	0	0	11704	768	27	1	120	1	PDGFA	7	540795	Missense_Mutation	SNP	C	TCGA-HT-7480-01A-11D-2086-08		540795	158597868	13	26811											
DNAH11	8701	broad.mit.edu	37	7	21789848	21789848	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-7480-01A-11D-2086-08	TCGA-HT-7480-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b0a47b5-0913-43b0-8508-71641e8d0521	c8ab24ab-a8ec-454b-9f9b-056ec420144b	g.chr7:21789848C>G	ENST00000328843.6	+	55	8858	c.8827C>G	c.(8827-8829)Cca>Gca	p.P2943A	DNAH11_ENST00000409508.3_Missense_Mutation_p.P2936A			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	2943	AAA 4 (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						AGGAGAAATCCCAGATCTGTT	0.348									Kartagener syndrome				6	10					0	0	1	0	0	G	21789848	C	G	21789848	3	3	241	1	0	0	0	0	1	0	0	0	4627	623	22	5	9042	5	DNAH11	7	21789848	Missense_Mutation	SNP	C	TCGA-HT-7480-01A-11D-2086-08	21249053	21789848	137348815	14	26812											
ADAM32	203102	broad.mit.edu	37	8	39114706	39114706	+	Splice_Site	SNP	G	G	T			TCGA-HT-7480-01A-11D-2086-08	TCGA-HT-7480-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b0a47b5-0913-43b0-8508-71641e8d0521	c8ab24ab-a8ec-454b-9f9b-056ec420144b	g.chr8:39114706G>T	ENST00000379907.4	+	19	2133	c.2006G>T	c.(2005-2007)gGt>gTt	p.G669V	ADAM32_ENST00000437682.2_Splice_Site_p.G570V|ADAM32_ENST00000519315.1_Splice_Site_p.G563V	NM_145004.5	NP_659441	Q8TC27	ADA32_HUMAN	ADAM metallopeptidase domain 32	669					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	31		all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503)	LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146)			CTGTTTTTAGGTTCAATCATG	0.308													5	11					0.014758	0.015386	1	1	0	T	39114706	G	T	39114706	5	4	241	1	0	0	0	0	0	0	1	0	248	1275	44	5	2080	5	ADAM32	8	39114706	Splice_Site	SNP	G	TCGA-HT-7480-01A-11D-2086-08		39114706	107249316	15	26813											
HRSP12	10247	broad.mit.edu	37	8	99129320	99129320	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7480-01A-11D-2086-08	TCGA-HT-7480-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b0a47b5-0913-43b0-8508-71641e8d0521	c8ab24ab-a8ec-454b-9f9b-056ec420144b	g.chr8:99129320G>A	ENST00000254878.3	-	1	149	c.5C>T	c.(4-6)tCg>tTg	p.S2L	HRSP12_ENST00000519155.1_5'UTR	NM_005836.2	NP_005827.1	P52758	UK114_HUMAN	heat-responsive protein 12	2					regulation of translational termination	nucleus	endonuclease activity			large_intestine(3)|lung(1)|ovary(1)|urinary_tract(1)	6	Breast(36;1.78e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.214)			GATCAAGGACGACATGGCTAA	0.612													10	78					0	0	1	0	0	A	99129320	G	A	99129320	3	1	241	1	0	0	0	0	1	0	0	0	7401	1059	37	1	432	1	HRSP12	8	99129320	Missense_Mutation	SNP	G	TCGA-HT-7480-01A-11D-2086-08	60014614	99129320	47234702	16	26814											
FOXD4	2298	broad.mit.edu	37	9	117891	117891	+	Missense_Mutation	SNP	T	T	G			TCGA-HT-7480-01A-11D-2086-08	TCGA-HT-7480-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b0a47b5-0913-43b0-8508-71641e8d0521	c8ab24ab-a8ec-454b-9f9b-056ec420144b	g.chr9:117891T>G	ENST00000382500.2	-	1	526	c.229A>C	c.(229-231)Agc>Cgc	p.S77R		NM_207305.4	NP_997188.2	Q12950	FOXD4_HUMAN	forkhead box D4	77					axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			endometrium(5)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	14	all_lung(41;0.218)	all_cancers(5;0.0395)|Acute lymphoblastic leukemia(5;1.91e-07)|all_hematologic(5;1.95e-06)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		GAGGGGTCGCTCGGGCCGCCG	0.706													19	97					0	0	1	0	0	G	117891	T	G	117891	3	3	241	1	0	0	0	0	1	0	0	0	6032	1551	54	5	1094	5	FOXD4	9	117891	Missense_Mutation	SNP	T	TCGA-HT-7480-01A-11D-2086-08		117891	141095540	17	26815											
PIGO	84720	broad.mit.edu	37	9	35093984	35093984	+	Silent	SNP	G	G	A			TCGA-HT-7480-01A-11D-2086-08	TCGA-HT-7480-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b0a47b5-0913-43b0-8508-71641e8d0521	c8ab24ab-a8ec-454b-9f9b-056ec420144b	g.chr9:35093984G>A	ENST00000378617.3	-	4	1087	c.693C>T	c.(691-693)ttC>ttT	p.F231F	PIGO_ENST00000298004.5_Silent_p.F231F|PIGO_ENST00000341666.3_Silent_p.F231F|PIGO_ENST00000361778.2_Silent_p.F231F	NM_032634.3	NP_116023.2	Q8TEQ8	PIGO_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class O	231				DVLIAHF -> EVSNQHV (in Ref. 7; AAH01030).	C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	transferase activity			endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			CCACACCCAGGAAGTGAGCAA	0.557													12	42					0	0	1	0	0	A	35093984	G	A	35093984	2	1	241	1	0	0	0	0	0	0	0	1	11942	1165	41	2		2	PIGO	9	35093984	Silent	SNP	G	TCGA-HT-7480-01A-11D-2086-08	34976093	35093984	106119447	18	26816											
FBXO18	84893	broad.mit.edu	37	10	5948527	5948527	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-7480-01A-11D-2086-08	TCGA-HT-7480-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b0a47b5-0913-43b0-8508-71641e8d0521	c8ab24ab-a8ec-454b-9f9b-056ec420144b	g.chr10:5948527G>T	ENST00000379999.5	+	4	942	c.838G>T	c.(838-840)Gtg>Ttg	p.V280L	FBXO18_ENST00000470089.1_3'UTR|FBXO18_ENST00000362091.4_Missense_Mutation_p.V229L|FBXO18_ENST00000397269.3_5'UTR	NM_032807.4	NP_116196.3	Q8NFZ0	FBX18_HUMAN	F-box protein, helicase, 18	229					DNA repair	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1)	40						CTTCCTCCCGGTGGAAGACCT	0.567													29	95					5.90632e-09	6.89071e-09	1	1	0	T	5948527	G	T	5948527	3	4	241	1	0	0	0	0	1	0	0	0	5764	1261	44	5	857	5	FBXO18	10	5948527	Missense_Mutation	SNP	G	TCGA-HT-7480-01A-11D-2086-08		5948527	129586220	19	26817											
MUC5B	727897	broad.mit.edu	37	11	1269703	1269703	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7480-01A-11D-2086-08	TCGA-HT-7480-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b0a47b5-0913-43b0-8508-71641e8d0521	c8ab24ab-a8ec-454b-9f9b-056ec420144b	g.chr11:1269703G>A	ENST00000447027.1	+	31	11660	c.11602G>A	c.(11602-11604)Gtg>Atg	p.V3868M	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000529681.1_Missense_Mutation_p.V3865M			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3865	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CACTACCAAAGTGCCGACTAC	0.642													18	131					0	0	1	0	0	A	1269703	G	A	1269703	3	1	241	1	0	0	0	0	1	0	0	0	10027	1029	36	2	11724	2	MUC5B	11	1269703	Missense_Mutation	SNP	G	TCGA-HT-7480-01A-11D-2086-08		1269703	133736813	20	26818											
DCHS1	8642	broad.mit.edu	37	11	6653011	6653011	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7480-01A-11D-2086-08	TCGA-HT-7480-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b0a47b5-0913-43b0-8508-71641e8d0521	c8ab24ab-a8ec-454b-9f9b-056ec420144b	g.chr11:6653011G>A	ENST00000299441.3	-	7	3922	c.3511C>T	c.(3511-3513)Cgt>Tgt	p.R1171C	RP11-732A19.6_ENST00000526633.1_RNA	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	1171	Cadherin 11.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGCTGCTCACGGTCCAGGGTT	0.577													27	23					0	0	1	0	0	A	6653011	G	A	6653011	3	1	241	1	0	0	0	0	1	0	0	0	4310	1116	39	1	6445	1	DCHS1	11	6653011	Missense_Mutation	SNP	G	TCGA-HT-7480-01A-11D-2086-08	5383308	6653011	128353505	21	26819											
CD163L1	283316	broad.mit.edu	37	12	7586119	7586119	+	Missense_Mutation	SNP	C	C	A	rs146684411	byFrequency	TCGA-HT-7480-01A-11D-2086-08	TCGA-HT-7480-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b0a47b5-0913-43b0-8508-71641e8d0521	c8ab24ab-a8ec-454b-9f9b-056ec420144b	g.chr12:7586119C>A	ENST00000313599.3	-	3	353	c.296G>T	c.(295-297)cGt>cTt	p.R99L	CD163L1_ENST00000416109.2_Missense_Mutation_p.R99L|CD163L1_ENST00000396630.1_Missense_Mutation_p.R99L			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	99	SRCR 1.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity	p.R99H(1)		breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						TTGTCCAAAACGAAACATGGC	0.478													8	93					0.000978159	0.00108931	1	1	0	A	7586119	C	A	7586119	3	1	241	1	0	0	0	0	1	0	0	0	2990	536	19	5	4133	5	CD163L1	12	7586119	Missense_Mutation	SNP	C	TCGA-HT-7480-01A-11D-2086-08		7586119	126265776	22	26820											
LRRK2	120892	broad.mit.edu	37	12	40704242	40704242	+	Missense_Mutation	SNP	T	T	A			TCGA-HT-7480-01A-11D-2086-08	TCGA-HT-7480-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b0a47b5-0913-43b0-8508-71641e8d0521	c8ab24ab-a8ec-454b-9f9b-056ec420144b	g.chr12:40704242T>A	ENST00000298910.7	+	31	4385	c.4327T>A	c.(4327-4329)Tct>Act	p.S1443T		NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1443	Roc.				activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				GGCTCGCGCTTCTTCTTCCCC	0.458													4	89					0	0	1	0	0	A	40704242	T	A	40704242	3	1	241	1	0	0	0	0	1	0	0	0	9078	1783	62	5	4449	5	LRRK2	12	40704242	Missense_Mutation	SNP	T	TCGA-HT-7480-01A-11D-2086-08	33118123	40704242	93147653	23	26821											
LATS2	26524	broad.mit.edu	37	13	21549240	21549240	+	Silent	SNP	G	G	A			TCGA-HT-7480-01A-11D-2086-08	TCGA-HT-7480-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b0a47b5-0913-43b0-8508-71641e8d0521	c8ab24ab-a8ec-454b-9f9b-056ec420144b	g.chr13:21549240G>A	ENST00000382592.4	-	8	3441	c.3036C>T	c.(3034-3036)aaC>aaT	p.N1012N	LATS2_ENST00000542899.1_Silent_p.N1012N	NM_014572.2	NP_055387.2	Q9NRM7	LATS2_HUMAN	large tumor suppressor kinase 2	1012	AGC-kinase C-terminal.				cell division|G1/S transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|intracellular protein kinase cascade|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity	microtubule organizing center|nucleus|spindle pole	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2)	45		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)		CGCTGGCATCGTTCCAAGGGC	0.557													47	135					0	0	1	0	0	A	21549240	G	A	21549240	2	1	241	1	0	0	0	0	0	0	0	1	8686	1136	40	1		1	LATS2	13	21549240	Silent	SNP	G	TCGA-HT-7480-01A-11D-2086-08		21549240	93620638	24	26822											
OR4K2	390431	broad.mit.edu	37	14	20345254	20345254	+	Silent	SNP	C	C	A			TCGA-HT-7480-01A-11D-2086-08	TCGA-HT-7480-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b0a47b5-0913-43b0-8508-71641e8d0521	c8ab24ab-a8ec-454b-9f9b-056ec420144b	g.chr14:20345254C>A	ENST00000298642.2	+	1	864	c.828C>A	c.(826-828)acC>acA	p.T276T		NM_001005501.1	NP_001005501.1	Q8NGD2	OR4K2_HUMAN	olfactory receptor, family 4, subfamily K, member 2	276					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TGTTTTATACCATCTTTACTC	0.358													16	93					3.52763e-06	4.01986e-06	1	1	0	A	20345254	C	A	20345254	2	1	241	1	0	0	0	0	0	0	0	1	11120	581	21	5		5	OR4K2	14	20345254	Silent	SNP	C	TCGA-HT-7480-01A-11D-2086-08		20345254	87004286	25	26823											
MAX	4149	broad.mit.edu	37	14	65544633	65544633	+	Missense_Mutation	SNP	T	T	G			TCGA-HT-7480-01A-11D-2086-08	TCGA-HT-7480-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b0a47b5-0913-43b0-8508-71641e8d0521	c8ab24ab-a8ec-454b-9f9b-056ec420144b	g.chr14:65544633T>G	ENST00000284165.6	-	4	441	c.293A>C	c.(292-294)cAa>cCa	p.Q98P	MAX_ENST00000557277.1_Missense_Mutation_p.K7Q|MAX_ENST00000341653.2_Intron|MAX_ENST00000557746.1_Missense_Mutation_p.Q89P|MAX_ENST00000555667.1_Missense_Mutation_p.Q89P|MAX_ENST00000555932.1_Intron|MAX_ENST00000556979.1_Missense_Mutation_p.Q98P|MAX_ENST00000556443.1_Missense_Mutation_p.Q89P|MAX_ENST00000555419.1_Missense_Mutation_p.Q62P|MAX_ENST00000358402.4_Missense_Mutation_p.Q89P|MAX_ENST00000358664.4_Missense_Mutation_p.Q98P	NM_145113.2	NP_660088.1	P61244	MAX_HUMAN	MYC associated factor X	98	Leucine-zipper.				transcription from RNA polymerase II promoter	cytoplasm|MLL1 complex	sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	17				all cancers(60;0.000776)|OV - Ovarian serous cystadenocarcinoma(108;0.00359)|BRCA - Breast invasive adenocarcinoma(234;0.00999)		GTGCTCACCTTGCTGCTCCAG	0.557													15	57					0	0	1	0	0	G	65544633	T	G	65544633	3	3	241	1	0	0	0	0	1	0	0	0	9389	1812	63	5	413	5	MAX	14	65544633	Missense_Mutation	SNP	T	TCGA-HT-7480-01A-11D-2086-08	45199379	65544633	41804907	26	26824											
GINS2	51659	broad.mit.edu	37	16	85722433	85722433	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HT-7480-01A-11D-2086-08	TCGA-HT-7480-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b0a47b5-0913-43b0-8508-71641e8d0521	c8ab24ab-a8ec-454b-9f9b-056ec420144b	g.chr16:85722433delG	ENST00000253462.3	-	1	172	c.72delC	c.(70-72)gacfs	p.D24fs		NM_016095.2	NP_057179.1	Q9Y248	PSF2_HUMAN	GINS complex subunit 2 (Psf2 homolog)	24					DNA strand elongation involved in DNA replication|S phase of mitotic cell cycle	nucleoplasm	protein binding			endometrium(2)|large_intestine(2)|lung(2)	6						GGTAGATCTTGTCCAGACTGA	0.692													2	4	---	---	---	---						-	85722433	G	-	85722433	7	5	241	1	0	1	0	1	0	0	0	0	6430	1368	48	0	505	0	GINS2	16	85722433	Frame_Shift_Del	DEL	G	TCGA-HT-7480-01A-11D-2086-08		85722433	4632320	27	26825											
MYH8	4626	broad.mit.edu	37	17	10300214	10300214	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7480-01A-11D-2086-08	TCGA-HT-7480-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b0a47b5-0913-43b0-8508-71641e8d0521	c8ab24ab-a8ec-454b-9f9b-056ec420144b	g.chr17:10300214C>T	ENST00000403437.2	-	31	4362	c.4268G>A	c.(4267-4269)cGg>cAg	p.R1423Q	RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1423					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						ATTCTGGAGCCGCTGCTTCGT	0.488									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				19	43					0	0	1	0	0	T	10300214	C	T	10300214	3	4	241	1	0	0	0	0	1	0	0	0	10089	652	23	1	1585	1	MYH8	17	10300214	Missense_Mutation	SNP	C	TCGA-HT-7480-01A-11D-2086-08		10300214	70894996	28	26826											
SUPT6H	6830	broad.mit.edu	37	17	27018008	27018008	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7480-01A-11D-2086-08	TCGA-HT-7480-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b0a47b5-0913-43b0-8508-71641e8d0521	c8ab24ab-a8ec-454b-9f9b-056ec420144b	g.chr17:27018008C>T	ENST00000314616.6	+	27	3843	c.3560C>T	c.(3559-3561)gCg>gTg	p.A1187V	SUPT6H_ENST00000347486.4_Missense_Mutation_p.A1187V	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	1187					chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					TATGACCAGGCGATCCGCAAT	0.552													8	57					0	0	1	0	0	T	27018008	C	T	27018008	3	4	241	1	0	0	0	0	1	0	0	0	15456	768	27	1	3662	1	SUPT6H	17	27018008	Missense_Mutation	SNP	C	TCGA-HT-7480-01A-11D-2086-08	16717794	27018008	54177202	29	26827											
KRT37	8688	broad.mit.edu	37	17	39580429	39580429	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7480-01A-11D-2086-08	TCGA-HT-7480-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b0a47b5-0913-43b0-8508-71641e8d0521	c8ab24ab-a8ec-454b-9f9b-056ec420144b	g.chr17:39580429G>A	ENST00000225550.3	-	1	346	c.347C>T	c.(346-348)gCc>gTc	p.A116V	AC003958.2_ENST00000432258.1_RNA	NM_003770.4	NP_003761.3	O76014	KRT37_HUMAN	keratin 37	116	Coil 1A.|Rod.					intermediate filament	structural molecule activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	25		Breast(137;0.000496)				CAGGTAGTTGGCCAGGCGGTC	0.582													37	90					0	0	1	0	0	A	39580429	G	A	39580429	3	1	241	1	0	0	0	0	1	0	0	0	8517	1203	42	2	1030	2	KRT37	17	39580429	Missense_Mutation	SNP	G	TCGA-HT-7480-01A-11D-2086-08	12562421	39580429	41614781	30	26828											
ST6GALNAC1	55808	broad.mit.edu	37	17	74625638	74625638	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7480-01A-11D-2086-08	TCGA-HT-7480-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b0a47b5-0913-43b0-8508-71641e8d0521	c8ab24ab-a8ec-454b-9f9b-056ec420144b	g.chr17:74625638G>A	ENST00000156626.7	-	2	486	c.287C>T	c.(286-288)aCc>aTc	p.T96I	ST6GALNAC1_ENST00000590878.1_5'UTR	NM_018414.3	NP_060884.1	Q9NSC7	SIA7A_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 1	96					protein glycosylation	integral to Golgi membrane	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	22						GTCTCCGGTGGTGTGGGCCTT	0.597													8	40					0	0	1	0	0	A	74625638	G	A	74625638	3	1	241	1	0	0	0	0	1	0	0	0	15279	1261	44	2	1547	2	ST6GALNAC1	17	74625638	Missense_Mutation	SNP	G	TCGA-HT-7480-01A-11D-2086-08	35045209	74625638	6569572	31	26829											
USP14	9097	broad.mit.edu	37	18	202880	202880	+	Splice_Site	SNP	C	C	T			TCGA-HT-7480-01A-11D-2086-08	TCGA-HT-7480-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b0a47b5-0913-43b0-8508-71641e8d0521	c8ab24ab-a8ec-454b-9f9b-056ec420144b	g.chr18:202880C>T	ENST00000261601.7	+	11	968	c.877C>T	c.(877-879)Cga>Tga	p.R293*	USP14_ENST00000400266.3_Splice_Site_p.R282*|USP14_ENST00000582707.1_Splice_Site_p.R258*|USP14_ENST00000383589.2_Splice_Site_p.R247*	NM_005151.3	NP_005142.1	P54578	UBP14_HUMAN	ubiquitin specific peptidase 14 (tRNA-guanine transglycosylase)						regulation of chemotaxis|regulation of proteasomal protein catabolic process|ubiquitin-dependent protein catabolic process	cell surface|cytoplasmic membrane-bounded vesicle|plasma membrane|proteasome complex	cysteine-type endopeptidase activity|endopeptidase inhibitor activity|proteasome binding|tRNA guanylyltransferase activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|skin(2)	11		all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412)				TCTTTCTTAGCGACTTCAGGA	0.353													9	43					0	0	1	0	0	T	202880	C	T	202880	5	4	241	1	0	0	0	0	0	0	1	0	17105	782	27	1	919	1	USP14	18	202880	Splice_Site	SNP	C	TCGA-HT-7480-01A-11D-2086-08		202880	77874368	32	26830											
ZNF98	148198	broad.mit.edu	37	19	22574657	22574657	+	Silent	SNP	T	T	C			TCGA-HT-7480-01A-11D-2086-08	TCGA-HT-7480-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b0a47b5-0913-43b0-8508-71641e8d0521	c8ab24ab-a8ec-454b-9f9b-056ec420144b	g.chr19:22574657T>C	ENST00000357774.5	-	4	1501	c.1380A>G	c.(1378-1380)aaA>aaG	p.K460K		NM_001098626.1	NP_001092096.1	A6NK75	ZNF98_HUMAN	zinc finger protein 98	460					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37		all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244)				ATTTGTAGGGTTTCTCTCCAG	0.373													4	84					0	0	1	0	0	C	22574657	T	C	22574657	2	2	241	1	0	0	0	0	0	0	0	1	18245	1722	60	3		3	ZNF98	19	22574657	Silent	SNP	T	TCGA-HT-7480-01A-11D-2086-08		22574657	36554326	33	26831											
ZNF91	7644	broad.mit.edu	37	19	23542477	23542477	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7480-01A-11D-2086-08	TCGA-HT-7480-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b0a47b5-0913-43b0-8508-71641e8d0521	c8ab24ab-a8ec-454b-9f9b-056ec420144b	g.chr19:23542477C>T	ENST00000300619.7	-	4	3509	c.3304G>A	c.(3304-3306)Gga>Aga	p.G1102R	ZNF91_ENST00000599743.1_Intron|ZNF91_ENST00000397082.2_Missense_Mutation_p.G1070R	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	1102						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding						all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				GGTTTCTCTCCGGTGTGCAAC	0.398													23	53					0	0	1	0	0	T	23542477	C	T	23542477	3	4	241	1	0	0	0	0	1	0	0	0	18242	661	23	1	275	1	ZNF91	19	23542477	Missense_Mutation	SNP	C	TCGA-HT-7480-01A-11D-2086-08	967820	23542477	35586506	34	26832											
CIC	23152	broad.mit.edu	37	19	42796451	42796451	+	Splice_Site	SNP	G	G	T			TCGA-HT-7480-01A-11D-2086-08	TCGA-HT-7480-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b0a47b5-0913-43b0-8508-71641e8d0521	c8ab24ab-a8ec-454b-9f9b-056ec420144b	g.chr19:42796451G>T	ENST00000572681.2	+	14	5803		c.e14-1		CIC_ENST00000575354.2_Splice_Site|CIC_ENST00000160740.3_Splice_Site			Q96RK0	CIC_HUMAN	capicua transcriptional repressor						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				TCCTGCGGCAGAATCACCTAT	0.662			"Mis, F, S"		oligodendroglioma								35	57					2.54651e-27	3.04339e-27	1	1	0	T	42796451	G	T	42796451	5	4	241	1	0	0	0	0	0	0	1	0	3446	956	33	4	3058	4	CIC	19	42796451	Splice_Site	SNP	G	TCGA-HT-7480-01A-11D-2086-08	19253974	42796451	16332532	35	26833											
CHGB	1114	broad.mit.edu	37	20	5905619	5905619	+	Splice_Site	SNP	A	A	G			TCGA-HT-7480-01A-11D-2086-08	TCGA-HT-7480-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b0a47b5-0913-43b0-8508-71641e8d0521	c8ab24ab-a8ec-454b-9f9b-056ec420144b	g.chr20:5905619A>G	ENST00000378961.4	+	5	2162	c.1958A>G	c.(1957-1959)aAa>aGa	p.K653R		NM_001819.2	NP_001810.2	P05060	SCG1_HUMAN	chromogranin B (secretogranin 1)	653						extracellular region	hormone activity			breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						ATTTTCCAGAAAAAAGAACTC	0.443													18	20					0	0	1	0	0	G	5905619	A	G	5905619	5	3	241	1	0	0	0	0	0	0	1	0	3361	28	1	3	1976	3	CHGB	20	5905619	Splice_Site	SNP	A	TCGA-HT-7480-01A-11D-2086-08		5905619	57119901	36	26834											
KCNG1	3755	broad.mit.edu	37	20	49626813	49626813	+	Silent	SNP	G	G	A			TCGA-HT-7480-01A-11D-2086-08	TCGA-HT-7480-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b0a47b5-0913-43b0-8508-71641e8d0521	c8ab24ab-a8ec-454b-9f9b-056ec420144b	g.chr20:49626813G>A	ENST00000371571.4	-	2	348	c.63C>T	c.(61-63)gaC>gaT	p.D21D	KCNG1_ENST00000396017.3_Silent_p.D21D	NM_002237.3	NP_002228.2	Q9UIX4	KCNG1_HUMAN	potassium voltage-gated channel, subfamily G, member 1	21						voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.D21D(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						GGAAGGAGGCGTCCGAGGTGC	0.672													6	29					0	0	1	0	0	A	49626813	G	A	49626813	2	1	241	1	0	0	0	0	0	0	0	1	8071	1136	40	1		1	KCNG1	20	49626813	Silent	SNP	G	TCGA-HT-7480-01A-11D-2086-08	43721194	49626813	13398707	37	26835											
TRPM2	7226	broad.mit.edu	37	21	45838405	45838405	+	Missense_Mutation	SNP	G	G	A	rs151101670	byFrequency	TCGA-HT-7480-01A-11D-2086-08	TCGA-HT-7480-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b0a47b5-0913-43b0-8508-71641e8d0521	c8ab24ab-a8ec-454b-9f9b-056ec420144b	g.chr21:45838405G>A	ENST00000397928.1	+	22	3873	c.3428G>A	c.(3427-3429)cGg>cAg	p.R1143Q	TRPM2_ENST00000300481.9_Missense_Mutation_p.R1123Q|TRPM2_ENST00000397932.2_Missense_Mutation_p.R1143Q|TRPM2_ENST00000300482.5_Missense_Mutation_p.R1143Q|AP001065.2_ENST00000423310.1_RNA|TRPM2_ENST00000498430.1_3'UTR	NM_003307.3	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	1143						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						CAAAAGCAGCGGCCCGAGCAG	0.607													7	195					0	0	1	0	0	A	45838405	G	A	45838405	3	1	241	1	0	0	0	0	1	0	0	0	16647	1116	39	1	3514	1	TRPM2	21	45838405	Missense_Mutation	SNP	G	TCGA-HT-7480-01A-11D-2086-08		45838405	2291490	38	26836											
FAM47C	442444	broad.mit.edu	37	X	37028425	37028425	+	Missense_Mutation	SNP	A	A	G	rs145580328	byFrequency	TCGA-HT-7480-01A-11D-2086-08	TCGA-HT-7480-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b0a47b5-0913-43b0-8508-71641e8d0521	c8ab24ab-a8ec-454b-9f9b-056ec420144b	g.chrX:37028425A>G	ENST00000358047.3	+	1	1994	c.1942A>G	c.(1942-1944)Aat>Gat	p.N648D		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	648								p.N648D(7)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						GGAGCCTCCCAATACTGGAGT	0.642													3	90					0	0	1	0	0	G	37028425	A	G	37028425	3	3	241	1	0	0	0	0	1	0	0	0	5607	130	5	3	1944	3	FAM47C	23	37028425	Missense_Mutation	SNP	A	TCGA-HT-7480-01A-11D-2086-08		37028425	118242135	39	26837											
FUBP1	8880	broad.mit.edu	37	1	78420962	78420962	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HT-7481-01A-11D-2024-08	TCGA-HT-7481-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	932ab1b0-9a7d-4906-8474-21a1809dc45c	42f07474-90cb-4b0a-aed3-08e7ff9f7b49	g.chr1:78420962C>T	ENST00000370767.1	-	18	1845	c.1758G>A	c.(1756-1758)tgG>tgA	p.W586*	FUBP1_ENST00000370768.2_Nonsense_Mutation_p.W586*|FUBP1_ENST00000436586.2_Nonsense_Mutation_p.W607*			Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1	586					transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						AGTACTCTTCCCAAGCCTTGG	0.318			"F, N"		oligodendroglioma								9	22					0	0	1	0	0	T	78420962	C	T	78420962	4	4	242	1	0	0	0	0	0	1	0	0	6127	624	22	2	188	2	FUBP1	1	78420962	Nonsense_Mutation	SNP	C	TCGA-HT-7481-01A-11D-2024-08		78420962	170829659	1	26838											
HRNR	388697	broad.mit.edu	37	1	152191242	152191242	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7481-01A-11D-2024-08	TCGA-HT-7481-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	932ab1b0-9a7d-4906-8474-21a1809dc45c	42f07474-90cb-4b0a-aed3-08e7ff9f7b49	g.chr1:152191242A>G	ENST00000368801.2	-	3	2938	c.2863T>C	c.(2863-2865)Tcc>Ccc	p.S955P	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	955					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCGTAGCTGGAGGAGTGACCT	0.542													91	275					0	0	1	0	0	G	152191242	A	G	152191242	3	3	242	1	0	0	0	0	1	0	0	0	7400	304	11	3	5693	3	HRNR	1	152191242	Missense_Mutation	SNP	A	TCGA-HT-7481-01A-11D-2024-08	73770280	152191242	97059379	2	26839											
SLC39A1	27173	broad.mit.edu	37	1	153932932	153932932	+	Missense_Mutation	SNP	C	C	T	rs146586677	byFrequency	TCGA-HT-7481-01A-11D-2024-08	TCGA-HT-7481-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	932ab1b0-9a7d-4906-8474-21a1809dc45c	42f07474-90cb-4b0a-aed3-08e7ff9f7b49	g.chr1:153932932C>T	ENST00000368623.3	-	3	1376	c.617G>A	c.(616-618)cGg>cAg	p.R206Q	SLC39A1_ENST00000537590.1_Missense_Mutation_p.R104Q|SLC39A1_ENST00000368621.1_Missense_Mutation_p.R206Q|SLC39A1_ENST00000310483.6_Missense_Mutation_p.R206Q|SLC39A1_ENST00000356205.4_Missense_Mutation_p.R206Q			Q9NY26	S39A1_HUMAN	solute carrier family 39 (zinc transporter), member 1	206						endoplasmic reticulum membrane|integral to membrane|membrane fraction|plasma membrane	zinc ion transmembrane transporter activity			kidney(2)|large_intestine(2)|lung(7)|urinary_tract(1)	12	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)	Colorectal(1306;0.019)		CTCCATGGCCCGAGCCCGGTC	0.662													4	45					0	0	1	0	0	T	153932932	C	T	153932932	3	4	242	1	0	0	0	0	1	0	0	0	14667	652	23	1	361	1	SLC39A1	1	153932932	Missense_Mutation	SNP	C	TCGA-HT-7481-01A-11D-2024-08	1741690	153932932	95317689	3	26840											
TP53BP2	7159	broad.mit.edu	37	1	223990463	223990465	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-HT-7481-01A-11D-2024-08	TCGA-HT-7481-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	932ab1b0-9a7d-4906-8474-21a1809dc45c	42f07474-90cb-4b0a-aed3-08e7ff9f7b49	g.chr1:223990463_223990465delCTT	ENST00000391878.2	-	9	1345_1347	c.577_579delAAG	c.(577-579)aagdel	p.K193del	TP53BP2_ENST00000343537.7_In_Frame_Del_p.K322del	NM_005426.2	NP_005417.1	Q13625	ASPP2_HUMAN	tumor protein p53 binding protein, 2	316					apoptosis|cell cycle|induction of apoptosis|negative regulation of cell cycle|signal transduction	nucleus|perinuclear region of cytoplasm	NF-kappaB binding|protein binding|SH3 domain binding|SH3/SH2 adaptor activity			NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(131;0.0958)		GTAGAGCTGCCTTCTTCTTCCAC	0.463													7	162	---	---	---	---						-	223990465	CTT	-	223990463	7	5	242	1	0	1	0	1	0	0	0	0	16445	680	24	0	2482	0	TP53BP2	1	223990463	In_Frame_Del	DEL	CTT	TCGA-HT-7481-01A-11D-2024-08	70057531	223990463	25260158	4	26841											
DNMT3A	1788	broad.mit.edu	37	2	25470985	25470985	+	Missense_Mutation	SNP	G	G	C			TCGA-HT-7481-01A-11D-2024-08	TCGA-HT-7481-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	932ab1b0-9a7d-4906-8474-21a1809dc45c	42f07474-90cb-4b0a-aed3-08e7ff9f7b49	g.chr2:25470985G>C	ENST00000264709.3	-	7	1113	c.776C>G	c.(775-777)gCt>gGt	p.A259G	DNMT3A_ENST00000402667.1_Missense_Mutation_p.A36G|DNMT3A_ENST00000380746.4_Missense_Mutation_p.A70G|DNMT3A_ENST00000321117.5_Missense_Mutation_p.A259G	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	259	Interaction with DNMT1 and DNMT3B.				regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGGCGTGGTAGCCACAGTGGG	0.647			"Mis, F, N, S"		AML								23	54					0	0	1	0	0	C	25470985	G	C	25470985	3	2	242	1	0	0	0	0	1	0	0	0	4703	971	34	4	2030	4	DNMT3A	2	25470985	Missense_Mutation	SNP	G	TCGA-HT-7481-01A-11D-2024-08		25470985	217728388	5	26842											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-HT-7481-01A-11D-2024-08	TCGA-HT-7481-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	932ab1b0-9a7d-4906-8474-21a1809dc45c	42f07474-90cb-4b0a-aed3-08e7ff9f7b49	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								16	70					0	0	1	0	0	T	209113112	C	T	209113112	3	4	242	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HT-7481-01A-11D-2024-08	183642127	209113112	34086261	6	26843											
PIK3CA	5290	broad.mit.edu	37	3	178917478	178917478	+	Splice_Site	SNP	G	G	A			TCGA-HT-7481-01A-11D-2024-08	TCGA-HT-7481-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	932ab1b0-9a7d-4906-8474-21a1809dc45c	42f07474-90cb-4b0a-aed3-08e7ff9f7b49	g.chr3:178917478G>A	ENST00000263967.3	+	3	510	c.353G>A	c.(352-354)gGt>gAt	p.G118D		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	118					epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.G118D(26)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TTTATTAAAGGTTTTGCTATC	0.338		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			13	76					0	0	1	0	0	A	178917478	G	A	178917478	5	1	242	1	0	0	0	0	0	0	1	0	11961	1275	44	2	359	2	PIK3CA	3	178917478	Splice_Site	SNP	G	TCGA-HT-7481-01A-11D-2024-08		178917478	19104952	7	26844											
PIK3CA	5290	broad.mit.edu	37	3	178928078	178928080	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-HT-7481-01A-11D-2024-08	TCGA-HT-7481-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	932ab1b0-9a7d-4906-8474-21a1809dc45c	42f07474-90cb-4b0a-aed3-08e7ff9f7b49	g.chr3:178928078_178928080delAGA	ENST00000263967.3	+	8	1513_1515	c.1356_1358delAGA	c.(1354-1359)ttagaa>tta	p.E453del		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	453	C2 PI3K-type.		E -> Q (in cancer; shows an increase in lipid kinase activity; may disrupt the interaction of the C2 PI3K-type domain with the iSH2 region of the p85 regulatory subunit).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E453K(11)|p.E453Q(5)|p.H450fs*9(1)|p.E453A(1)|p.P449_L455del(1)|p.G451_L456>V(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			CTCATGGATTAGAAGATTTGCTG	0.35		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			8	102	---	---	---	---						-	178928080	AGA	-	178928078	7	5	242	1	0	1	0	1	0	0	0	0	11961	417	15	0	1382	0	PIK3CA	3	178928078	In_Frame_Del	DEL	AGA	TCGA-HT-7481-01A-11D-2024-08	10600	178928078	19094352	8	26845											
PIK3CA	5290	broad.mit.edu	37	3	178952072	178952072	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7481-01A-11D-2024-08	TCGA-HT-7481-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	932ab1b0-9a7d-4906-8474-21a1809dc45c	42f07474-90cb-4b0a-aed3-08e7ff9f7b49	g.chr3:178952072A>G	ENST00000263967.3	+	21	3284	c.3127A>G	c.(3127-3129)Atg>Gtg	p.M1043V		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1043	PI3K/PI4K.		M -> I (in cancer; shows an increase in lipid kinase activity).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.M1043V(22)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			CATGAAACAAATGAATGATGC	0.368		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			7	97					0	0	1	0	0	G	178952072	A	G	178952072	3	3	242	1	0	0	0	0	1	0	0	0	11961	101	4	3	3205	3	PIK3CA	3	178952072	Missense_Mutation	SNP	A	TCGA-HT-7481-01A-11D-2024-08	23994	178952072	19070358	9	26846											
LMLN	89782	broad.mit.edu	37	3	197751579	197751579	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-7481-01A-11D-2024-08	TCGA-HT-7481-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	932ab1b0-9a7d-4906-8474-21a1809dc45c	42f07474-90cb-4b0a-aed3-08e7ff9f7b49	g.chr3:197751579C>G	ENST00000330198.4	+	14	1598	c.1576C>G	c.(1576-1578)Cta>Gta	p.L526V	LMLN_ENST00000420910.2_Missense_Mutation_p.L563V|LMLN_ENST00000482695.1_Missense_Mutation_p.L511V|LMLN_ENST00000332636.5_Missense_Mutation_p.L474V	NM_033029.3	NP_149018.2	Q96KR4	LMLN_HUMAN	leishmanolysin-like (metallopeptidase M8 family)	526					cell adhesion|cell division|mitosis|proteolysis	cytoplasm|membrane	metalloendopeptidase activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)	Lung NSC(153;0.132)	Epithelial(36;9.84e-24)|all cancers(36;3.18e-22)|OV - Ovarian serous cystadenocarcinoma(49;5.35e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.111)		TTCCGTTTGTCTAATTCAGAA	0.393													12	91					0	0	1	0	0	G	197751579	C	G	197751579	3	3	242	1	0	0	0	0	1	0	0	0	8888	912	32	4	1745	4	LMLN	3	197751579	Missense_Mutation	SNP	C	TCGA-HT-7481-01A-11D-2024-08	18799507	197751579	270851	10	26847											
CPEB2	132864	broad.mit.edu	37	4	15060817	15060817	+	Missense_Mutation	SNP	A	A	T			TCGA-HT-7481-01A-11D-2024-08	TCGA-HT-7481-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	932ab1b0-9a7d-4906-8474-21a1809dc45c	42f07474-90cb-4b0a-aed3-08e7ff9f7b49	g.chr4:15060817A>T	ENST00000538197.1	+	10	2587	c.2587A>T	c.(2587-2589)Ata>Tta	p.I863L	CPEB2_ENST00000507071.1_Missense_Mutation_p.I418L|CPEB2_ENST00000382395.3_Missense_Mutation_p.I396L|CPEB2_ENST00000382401.3_Missense_Mutation_p.I391L|RP11-665G4.1_ENST00000513384.1_RNA|CPEB2_ENST00000345451.3_Missense_Mutation_p.I388L|RP11-665G4.1_ENST00000502344.1_RNA|CPEB2_ENST00000442003.2_Missense_Mutation_p.I836L|CPEB2_ENST00000541112.1_Missense_Mutation_p.I855L|CPEB2_ENST00000259997.5_Missense_Mutation_p.I426L	NM_001177382.1	NP_001170853.1	Q7Z5Q1	CPEB2_HUMAN	cytoplasmic polyadenylation element binding protein 2	418					regulation of translation	cytoplasm	nucleotide binding|RNA binding			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|skin(3)	14						ATAGGTTCAAATACGTCCTTG	0.348													5	59					0	0	1	0	0	T	15060817	A	T	15060817	3	4	242	1	0	0	0	0	1	0	0	0	3824	101	4	4	2634	4	CPEB2	4	15060817	Missense_Mutation	SNP	A	TCGA-HT-7481-01A-11D-2024-08		15060817	176093459	11	26848											
UGT2B28	54490	broad.mit.edu	37	4	70155435	70155435	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7481-01A-11D-2024-08	TCGA-HT-7481-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	932ab1b0-9a7d-4906-8474-21a1809dc45c	42f07474-90cb-4b0a-aed3-08e7ff9f7b49	g.chr4:70155435G>A	ENST00000335568.5	+	4	1057	c.1055G>A	c.(1054-1056)cGg>cAg	p.R352Q	UGT2B28_ENST00000511240.1_Intron	NM_053039.1	NP_444267.1	Q9BY64	UDB28_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B28	352					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31					Flunitrazepam(DB01544)	CTCAATACTCGGCTGTATAAG	0.363													30	36					0	0	1	0	0	A	70155435	G	A	70155435	3	1	242	1	0	0	0	0	1	0	0	0	17020	1116	39	1	1069	1	UGT2B28	4	70155435	Missense_Mutation	SNP	G	TCGA-HT-7481-01A-11D-2024-08	55094618	70155435	120998841	12	26849											
GK2	2712	broad.mit.edu	37	4	80328636	80328636	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7481-01A-11D-2024-08	TCGA-HT-7481-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	932ab1b0-9a7d-4906-8474-21a1809dc45c	42f07474-90cb-4b0a-aed3-08e7ff9f7b49	g.chr4:80328636T>C	ENST00000358842.3	-	1	736	c.719A>G	c.(718-720)tAt>tGt	p.Y240C		NM_033214.2	NP_149991.2	Q14410	GLPK2_HUMAN	glycerol kinase 2	240					glycerol-3-phosphate metabolic process	mitochondrial outer membrane	ATP binding|glycerol kinase activity			autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	39						AATTAGGCCATAGATCTCAGA	0.423													37	98					0	0	1	0	0	C	80328636	T	C	80328636	3	2	242	1	0	0	0	0	1	0	0	0	6463	1406	49	3	946	3	GK2	4	80328636	Missense_Mutation	SNP	T	TCGA-HT-7481-01A-11D-2024-08	10173201	80328636	110825640	13	26850											
NUP155	9631	broad.mit.edu	37	5	37309323	37309323	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7481-01A-11D-2024-08	TCGA-HT-7481-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	932ab1b0-9a7d-4906-8474-21a1809dc45c	42f07474-90cb-4b0a-aed3-08e7ff9f7b49	g.chr5:37309323T>C	ENST00000231498.3	-	24	2878	c.2675A>G	c.(2674-2676)gAa>gGa	p.E892G	NUP155_ENST00000502533.1_5'UTR|NUP155_ENST00000513532.1_Missense_Mutation_p.E828G|NUP155_ENST00000381843.2_Missense_Mutation_p.E833G	NM_153485.1	NP_705618.1	O75694	NU155_HUMAN	nucleoporin 155kDa	892					carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore	protein binding|structural constituent of nuclear pore|transporter activity			endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	62	all_lung(31;0.000137)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TCTTTCTTTTTCAGTCTTATT	0.343													9	23					0	0	1	0	0	C	37309323	T	C	37309323	3	2	242	1	0	0	0	0	1	0	0	0	10804	1783	62	3	1548	3	NUP155	5	37309323	Missense_Mutation	SNP	T	TCGA-HT-7481-01A-11D-2024-08		37309323	143605937	14	26851											
PIK3R1	5295	broad.mit.edu	37	5	67589147	67589149	+	In_Frame_Del	DEL	AAA	AAA	-			TCGA-HT-7481-01A-11D-2024-08	TCGA-HT-7481-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	932ab1b0-9a7d-4906-8474-21a1809dc45c	42f07474-90cb-4b0a-aed3-08e7ff9f7b49	g.chr5:67589147_67589149delAAA	ENST00000521381.1	+	10	1751_1753	c.1135_1137delAAA	c.(1135-1137)aaadel	p.K379del	PIK3R1_ENST00000521657.1_In_Frame_Del_p.K379del|PIK3R1_ENST00000274335.5_In_Frame_Del_p.K379del|PIK3R1_ENST00000320694.8_In_Frame_Del_p.K79del|PIK3R1_ENST00000336483.5_In_Frame_Del_p.K109del|PIK3R1_ENST00000396611.1_In_Frame_Del_p.K379del|PIK3R1_ENST00000523872.1_In_Frame_Del_p.K16del	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	379	SH2 1.				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	GGGAAATAACAAATTAATCAAAA	0.31			"Mis, F, O"		"gliobastoma, ovarian, colorectal"					TCGA GBM(4;<1E-08)			11	69	---	---	---	---						-	67589149	AAA	-	67589147	7	5	242	1	0	1	0	1	0	0	0	0	11966	131	5	0	1299	0	PIK3R1	5	67589147	In_Frame_Del	DEL	AAA	TCGA-HT-7481-01A-11D-2024-08	30279824	67589147	113326113	15	26852											
RREB1	6239	broad.mit.edu	37	6	7231010	7231010	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7481-01A-11D-2024-08	TCGA-HT-7481-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	932ab1b0-9a7d-4906-8474-21a1809dc45c	42f07474-90cb-4b0a-aed3-08e7ff9f7b49	g.chr6:7231010C>T	ENST00000379938.2	+	10	3215	c.2678C>T	c.(2677-2679)gCg>gTg	p.A893V	RREB1_ENST00000349384.6_Missense_Mutation_p.A893V|RREB1_ENST00000334984.6_Missense_Mutation_p.A893V|RREB1_ENST00000379933.3_Missense_Mutation_p.A893V	NM_001003699.3|NM_001003700.1	NP_001003699.1|NP_001003700.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	893					multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding	p.A893V(1)		breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				AGTAGCTTTGCGGTGGACTTC	0.592													5	63					0	0	1	0	0	T	7231010	C	T	7231010	3	4	242	1	0	0	0	0	1	0	0	0	13731	768	27	1	2704	1	RREB1	6	7231010	Missense_Mutation	SNP	C	TCGA-HT-7481-01A-11D-2024-08		7231010	163884057	16	26853											
HIST1H2BF	8343	broad.mit.edu	37	6	26199854	26199856	+	In_Frame_Del	DEL	AGA	AGA	-	rs150784470		TCGA-HT-7481-01A-11D-2024-08	TCGA-HT-7481-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	932ab1b0-9a7d-4906-8474-21a1809dc45c	42f07474-90cb-4b0a-aed3-08e7ff9f7b49	g.chr6:26199854_26199856delAGA	ENST00000359985.1	+	1	107_109	c.68_70delAGA	c.(67-72)cagaag>cag	p.K25del		NM_003522.3	NP_003513.1	P62807	H2B1C_HUMAN	histone cluster 1, H2bf	25					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(7)|upper_aerodigestive_tract(3)	17		all_hematologic(11;0.196)				ACCAAGGCGCAGAAGAAGGATGG	0.522													61	132	---	---	---	---						-	26199856	AGA	-	26199854	7	5	242	1	0	1	0	1	0	0	0	0	7186	188	7	0	70	0	HIST1H2BF	6	26199854	In_Frame_Del	DEL	AGA	TCGA-HT-7481-01A-11D-2024-08	18968844	26199854	144915213	17	26854											
KIF6	221458	broad.mit.edu	37	6	39513390	39513390	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7481-01A-11D-2024-08	TCGA-HT-7481-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	932ab1b0-9a7d-4906-8474-21a1809dc45c	42f07474-90cb-4b0a-aed3-08e7ff9f7b49	g.chr6:39513390C>T	ENST00000287152.7	-	11	1350	c.1256G>A	c.(1255-1257)cGt>cAt	p.R419H	KIF6_ENST00000373215.3_Missense_Mutation_p.R419H|KIF6_ENST00000373216.3_Missense_Mutation_p.R419H|KIF6_ENST00000373213.4_Missense_Mutation_p.R258H|KIF6_ENST00000538893.1_Missense_Mutation_p.R419H	NM_145027.4	NP_659464.3	Q6ZMV9	KIF6_HUMAN	kinesin family member 6	419					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						ATGAACTTTACGCATATCCGC	0.358													27	65					0	0	1	0	0	T	39513390	C	T	39513390	3	4	242	1	0	0	0	0	1	0	0	0	8350	536	19	1	1240	1	KIF6	6	39513390	Missense_Mutation	SNP	C	TCGA-HT-7481-01A-11D-2024-08	13313536	39513390	131601677	18	26855											
DLK2	65989	broad.mit.edu	37	6	43418774	43418774	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7481-01A-11D-2024-08	TCGA-HT-7481-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	932ab1b0-9a7d-4906-8474-21a1809dc45c	42f07474-90cb-4b0a-aed3-08e7ff9f7b49	g.chr6:43418774G>A	ENST00000357338.3	-	6	1355	c.655C>T	c.(655-657)Cgc>Tgc	p.R219C	DLK2_ENST00000372488.3_Missense_Mutation_p.R219C|DLK2_ENST00000414245.1_Missense_Mutation_p.R213C|DLK2_ENST00000372485.1_Missense_Mutation_p.R213C	NM_206539.1	NP_996262.1	Q6UY11	DLK2_HUMAN	delta-like 2 homolog (Drosophila)	219	EGF-like 6; calcium-binding (Potential).					integral to membrane	calcium ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	7	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			TGGCATGGGCGGCTGGCACAG	0.622													5	67					0	0	1	0	0	A	43418774	G	A	43418774	3	1	242	1	0	0	0	0	1	0	0	0	4593	1116	39	1	500	1	DLK2	6	43418774	Missense_Mutation	SNP	G	TCGA-HT-7481-01A-11D-2024-08	3905384	43418774	127696293	19	26856											
BACH2	60468	broad.mit.edu	37	6	90660233	90660235	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-HT-7481-01A-11D-2024-08	TCGA-HT-7481-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	932ab1b0-9a7d-4906-8474-21a1809dc45c	42f07474-90cb-4b0a-aed3-08e7ff9f7b49	g.chr6:90660233_90660235delTCC	ENST00000257749.4	-	7	2297_2299	c.1590_1592delGGA	c.(1588-1593)gaggac>gac	p.E530del	BACH2_ENST00000537989.1_In_Frame_Del_p.E530del|RP3-512E2.2_ENST00000413986.1_RNA|BACH2_ENST00000343122.3_In_Frame_Del_p.E530del|RP3-512E2.2_ENST00000445838.1_RNA	NM_021813.2	NP_068585.1	Q9BYV9	BACH2_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 2	530						nucleus	protein dimerization activity|sequence-specific DNA binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	45		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)		CCCGCTCCCGTCCTCCGCGTAGG	0.616													19	63	---	---	---	---						-	90660235	TCC	-	90660233	7	5	242	1	0	1	0	1	0	0	0	0	1282	1667	58	0	945	0	BACH2	6	90660233	In_Frame_Del	DEL	TCC	TCGA-HT-7481-01A-11D-2024-08	47241459	90660233	80454834	20	26857											
FRK	2444	broad.mit.edu	37	6	116265543	116265543	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7481-01A-11D-2024-08	TCGA-HT-7481-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	932ab1b0-9a7d-4906-8474-21a1809dc45c	42f07474-90cb-4b0a-aed3-08e7ff9f7b49	g.chr6:116265543G>A	ENST00000606080.1	-	6	1450	c.1004C>T	c.(1003-1005)gCg>gTg	p.A335V	FRK_ENST00000538210.1_Missense_Mutation_p.A193V	NM_002031.2	NP_002022.1	P42685	FRK_HUMAN	fyn-related kinase	335	Protein kinase.				negative regulation of cell proliferation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|skin(1)|urinary_tract(1)	27		all_cancers(87;0.00559)|all_epithelial(87;0.00738)|Colorectal(196;0.0465)		all cancers(137;0.0128)|OV - Ovarian serous cystadenocarcinoma(136;0.0209)|GBM - Glioblastoma multiforme(226;0.0459)|Epithelial(106;0.0625)		AACCTGTGCCGCCATGTCTAC	0.418													4	65					0	0	1	0	0	A	116265543	G	A	116265543	3	1	242	1	0	0	0	0	1	0	0	0	6083	1087	38	1	525	1	FRK	6	116265543	Missense_Mutation	SNP	G	TCGA-HT-7481-01A-11D-2024-08	25605310	116265543	54849524	21	26858											
MAP3K4	4216	broad.mit.edu	37	6	161470895	161470895	+	Missense_Mutation	SNP	G	G	C			TCGA-HT-7481-01A-11D-2024-08	TCGA-HT-7481-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	932ab1b0-9a7d-4906-8474-21a1809dc45c	42f07474-90cb-4b0a-aed3-08e7ff9f7b49	g.chr6:161470895G>C	ENST00000392142.4	+	3	1739	c.1591G>C	c.(1591-1593)Gac>Cac	p.D531H	MAP3K4_ENST00000366919.2_Missense_Mutation_p.D531H|MAP3K4_ENST00000348824.7_Missense_Mutation_p.D531H|MAP3K4_ENST00000366920.2_Missense_Mutation_p.D531H	NM_005922.2	NP_005913	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	531					activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		ACCATTTGTAGACAAAGCACT	0.423													13	94					0	0	1	0	0	C	161470895	G	C	161470895	3	2	242	1	0	0	0	0	1	0	0	0	9302	942	33	4	1601	4	MAP3K4	6	161470895	Missense_Mutation	SNP	G	TCGA-HT-7481-01A-11D-2024-08	45205352	161470895	9644172	22	26859											
RAB11FIP1	80223	broad.mit.edu	37	8	37734856	37734856	+	Silent	SNP	G	G	A			TCGA-HT-7481-01A-11D-2024-08	TCGA-HT-7481-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	932ab1b0-9a7d-4906-8474-21a1809dc45c	42f07474-90cb-4b0a-aed3-08e7ff9f7b49	g.chr8:37734856G>A	ENST00000330843.4	-	2	597	c.585C>T	c.(583-585)agC>agT	p.S195S	RAB11FIP1_ENST00000522727.1_Silent_p.S47S|RAB11FIP1_ENST00000524118.1_Silent_p.S47S|RAB11FIP1_ENST00000287263.4_Silent_p.S195S	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 (class I)	195					protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding			NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			AAGGTGTCGTGCTAGGGATGA	0.448													13	163					0	0	1	0	0	A	37734856	G	A	37734856	2	1	242	1	0	0	0	0	0	0	0	1	12945	1310	46	2		2	RAB11FIP1	8	37734856	Silent	SNP	G	TCGA-HT-7481-01A-11D-2024-08		37734856	108629166	23	26860											
NOTCH1	4851	broad.mit.edu	37	9	139413067	139413069	+	In_Frame_Del	DEL	AGT	AGT	-			TCGA-HT-7481-01A-11D-2024-08	TCGA-HT-7481-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	932ab1b0-9a7d-4906-8474-21a1809dc45c	42f07474-90cb-4b0a-aed3-08e7ff9f7b49	g.chr9:139413067_139413069delAGT	ENST00000277541.6	-	6	1148_1150	c.1073_1075delACT	c.(1072-1077)tactgc>tgc	p.Y358del		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	358	EGF-like 9; calcium-binding (Potential).				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GGACACTCGCAGTAGAAGGAGGC	0.655			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			7	29	---	---	---	---						-	139413069	AGT	-	139413067	7	5	242	1	0	1	0	1	0	0	0	0	10594	188	7	0	6708	0	NOTCH1	9	139413067	In_Frame_Del	DEL	AGT	TCGA-HT-7481-01A-11D-2024-08		139413067	1800364	24	26861											
CD163	9332	broad.mit.edu	37	12	7635248	7635248	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7481-01A-11D-2024-08	TCGA-HT-7481-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	932ab1b0-9a7d-4906-8474-21a1809dc45c	42f07474-90cb-4b0a-aed3-08e7ff9f7b49	g.chr12:7635248G>A	ENST00000359156.4	-	14	3440	c.3238C>T	c.(3238-3240)Cgg>Tgg	p.R1080W	CD163_ENST00000396620.3_Missense_Mutation_p.R1113W|CD163_ENST00000541972.1_Missense_Mutation_p.R1068W|CD163_ENST00000432237.2_Missense_Mutation_p.R1080W	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	1080					acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						CCTGCAAGCCGCTGTCTCTGT	0.428													52	113					0	0	1	0	0	A	7635248	G	A	7635248	3	1	242	1	0	0	0	0	1	0	0	0	2989	1086	38	1	244	1	CD163	12	7635248	Missense_Mutation	SNP	G	TCGA-HT-7481-01A-11D-2024-08		7635248	126216647	25	26862											
KERA	11081	broad.mit.edu	37	12	91449544	91449544	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7481-01A-11D-2024-08	TCGA-HT-7481-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	932ab1b0-9a7d-4906-8474-21a1809dc45c	42f07474-90cb-4b0a-aed3-08e7ff9f7b49	g.chr12:91449544T>C	ENST00000266719.3	-	2	762	c.515A>G	c.(514-516)gAc>gGc	p.D172G		NM_007035.3	NP_008966.1	O60938	KERA_HUMAN	keratocan	172					response to stimulus|visual perception	proteinaceous extracellular matrix				breast(2)|large_intestine(8)|lung(5)|prostate(2)|skin(2)	19						GTTCTGTAGGTCAAGAAGGGT	0.413													49	149					0	0	1	0	0	C	91449544	T	C	91449544	3	2	242	1	0	0	0	0	1	0	0	0	8186	1667	58	3	551	3	KERA	12	91449544	Missense_Mutation	SNP	T	TCGA-HT-7481-01A-11D-2024-08	83814296	91449544	42402351	26	26863											
FSCB	84075	broad.mit.edu	37	14	44975038	44975038	+	Silent	SNP	G	G	T			TCGA-HT-7481-01A-11D-2024-08	TCGA-HT-7481-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	932ab1b0-9a7d-4906-8474-21a1809dc45c	42f07474-90cb-4b0a-aed3-08e7ff9f7b49	g.chr14:44975038G>T	ENST00000340446.4	-	1	1444	c.1153C>A	c.(1153-1155)Cgg>Agg	p.R385R		NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	385	Pro-rich.					cilium				breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		GAGGGAGACCGAATTTCACCA	0.532													12	137					0.00010058	0.000111513	1	1	0	T	44975038	G	T	44975038	2	4	242	1	0	0	0	0	0	0	0	1	6101	1057	37	5		5	FSCB	14	44975038	Silent	SNP	G	TCGA-HT-7481-01A-11D-2024-08		44975038	62374502	27	26864											
NETO1	81832	broad.mit.edu	37	18	70417415	70417415	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7481-01A-11D-2024-08	TCGA-HT-7481-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	932ab1b0-9a7d-4906-8474-21a1809dc45c	42f07474-90cb-4b0a-aed3-08e7ff9f7b49	g.chr18:70417415T>C	ENST00000327305.6	-	9	2080	c.1423A>G	c.(1423-1425)Atc>Gtc	p.I475V	NETO1_ENST00000299430.2_Missense_Mutation_p.I474V|NETO1_ENST00000583169.1_Missense_Mutation_p.I475V	NM_138966.3	NP_620416	Q8TDF5	NETO1_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 1	475					memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity			NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		ATGACAAGGATATTTCTTCTG	0.507													13	45					0	0	1	0	0	C	70417415	T	C	70417415	3	2	242	1	0	0	0	0	1	0	0	0	10386	1406	49	3	186	3	NETO1	18	70417415	Missense_Mutation	SNP	T	TCGA-HT-7481-01A-11D-2024-08		70417415	7659833	28	26865											
NLRP2	55655	broad.mit.edu	37	19	55494669	55494669	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7481-01A-11D-2024-08	TCGA-HT-7481-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	932ab1b0-9a7d-4906-8474-21a1809dc45c	42f07474-90cb-4b0a-aed3-08e7ff9f7b49	g.chr19:55494669G>A	ENST00000543010.1	+	6	1746	c.1603G>A	c.(1603-1605)Gta>Ata	p.V535I	NLRP2_ENST00000427260.2_Missense_Mutation_p.V512I|NLRP2_ENST00000538819.1_Missense_Mutation_p.V511I|NLRP2_ENST00000448584.2_Missense_Mutation_p.V535I|NLRP2_ENST00000537859.1_Missense_Mutation_p.V513I|NLRP2_ENST00000391721.4_Missense_Mutation_p.V511I|NLRP2_ENST00000339757.7_Missense_Mutation_p.V513I|NLRP2_ENST00000263437.6_Missense_Mutation_p.V532I	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	535					apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding	p.V535I(1)		large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		CATTGGGGACGTACAGAAGCT	0.557													4	48					0	0	1	0	0	A	55494669	G	A	55494669	3	1	242	1	0	0	0	0	1	0	0	0	10524	1145	40	1	1621	1	NLRP2	19	55494669	Missense_Mutation	SNP	G	TCGA-HT-7481-01A-11D-2024-08		55494669	3634314	29	26866											
FLRT3	23767	broad.mit.edu	37	20	14306271	14306271	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7481-01A-11D-2024-08	TCGA-HT-7481-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	932ab1b0-9a7d-4906-8474-21a1809dc45c	42f07474-90cb-4b0a-aed3-08e7ff9f7b49	g.chr20:14306271T>C	ENST00000378053.3	-	2	2138	c.1882A>G	c.(1882-1884)Agt>Ggt	p.S628G	MACROD2_ENST00000217246.4_Intron|MACROD2_ENST00000310348.4_Intron|FLRT3_ENST00000341420.4_Missense_Mutation_p.S628G	NM_013281.3	NP_037413.1	Q9NZU0	FLRT3_HUMAN	fibronectin leucine rich transmembrane protein 3	628					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			breast(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Colorectal(1;0.0464)	COAD - Colon adenocarcinoma(2;0.129)	Colorectal(1;0.0393)		CTGCTTTCACTGTGATTGTTT	0.413													18	135					0	0	1	0	0	C	14306271	T	C	14306271	3	2	242	1	0	0	0	0	1	0	0	0	5973	1580	55	3	71	3	FLRT3	20	14306271	Missense_Mutation	SNP	T	TCGA-HT-7481-01A-11D-2024-08		14306271	48719249	30	26867											
WISP2	8839	broad.mit.edu	37	20	43348625	43348625	+	Missense_Mutation	SNP	T	T	G			TCGA-HT-7481-01A-11D-2024-08	TCGA-HT-7481-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	932ab1b0-9a7d-4906-8474-21a1809dc45c	42f07474-90cb-4b0a-aed3-08e7ff9f7b49	g.chr20:43348625T>G	ENST00000372868.2	+	3	491	c.148T>G	c.(148-150)Tgt>Ggt	p.C50G	WISP2_ENST00000372865.4_Missense_Mutation_p.C50G|WISP2_ENST00000190983.4_Missense_Mutation_p.C50G|RP11-445H22.4_ENST00000445420.1_RNA|RP11-445H22.4_ENST00000427303.1_RNA|RP11-445H22.4_ENST00000427598.1_RNA			O76076	WISP2_HUMAN	WNT1 inducible signaling pathway protein 2	50	IGFBP N-terminal.				cell adhesion|cell-cell signaling|signal transduction	extracellular region|soluble fraction	insulin-like growth factor binding			skin(1)	1		Myeloproliferative disorder(115;0.0122)				GCTGGATGGCTGTGGCTGCTG	0.697													5	15					0	0	1	0	0	G	43348625	T	G	43348625	3	3	242	1	0	0	0	0	1	0	0	0	17433	1580	55	5	154	5	WISP2	20	43348625	Missense_Mutation	SNP	T	TCGA-HT-7481-01A-11D-2024-08	29042354	43348625	19676895	31	26868											
TSHZ2	128553	broad.mit.edu	37	20	51873020	51873020	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7481-01A-11D-2024-08	TCGA-HT-7481-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	932ab1b0-9a7d-4906-8474-21a1809dc45c	42f07474-90cb-4b0a-aed3-08e7ff9f7b49	g.chr20:51873020C>T	ENST00000371497.5	+	2	3910	c.3023C>T	c.(3022-3024)gCg>gTg	p.A1008V	TSHZ2_ENST00000329613.6_Missense_Mutation_p.A1005V|TSHZ2_ENST00000603338.2_Missense_Mutation_p.A1005V|RP4-678D15.1_ENST00000606932.1_RNA	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	1008					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			AGCAAACATGCGGTAAAACTC	0.468													19	59					0	0	1	0	0	T	51873020	C	T	51873020	3	4	242	1	0	0	0	0	1	0	0	0	16685	768	27	1	3029	1	TSHZ2	20	51873020	Missense_Mutation	SNP	C	TCGA-HT-7481-01A-11D-2024-08	8524395	51873020	11152500	32	26869											
GAGE2D	729408	broad.mit.edu	37	X	49208295	49208296	+	In_Frame_Ins	INS	-	-	TAT			TCGA-HT-7481-01A-11D-2024-08	TCGA-HT-7481-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	932ab1b0-9a7d-4906-8474-21a1809dc45c	42f07474-90cb-4b0a-aed3-08e7ff9f7b49	g.chrX:49208295_49208296insTAT	ENST00000404720.2	+	2	96_97	c.24_25insTAT	c.(25-27)tat>TATtat	p.9_9Y>YY		NM_001098407.1|NM_012196.1	NP_001091877.1|NP_036328.1			G antigen 2D																		GAAGATCGACCTATCGGCCTAG	0.465													4	7	---	---	---	---						TAT	49208296	-	TAT	49208295	7	5	242	1	0	1	1	0	0	0	0	0	6229	668	24	0	366	0	GAGE2D	23	49208295	In_Frame_Ins	INS	-	TCGA-HT-7481-01A-11D-2024-08		49208295	106062265	33	26870											
KIAA1210	57481	broad.mit.edu	37	X	118222475	118222475	+	Missense_Mutation	SNP	C	C	A			TCGA-HT-7481-01A-11D-2024-08	TCGA-HT-7481-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	932ab1b0-9a7d-4906-8474-21a1809dc45c	42f07474-90cb-4b0a-aed3-08e7ff9f7b49	g.chrX:118222475C>A	ENST00000402510.2	-	11	2717	c.2718G>T	c.(2716-2718)atG>atT	p.M906I		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	906										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						GCAGCTGCTGCATAAAATCAT	0.483													3	23					1	1	1	1	0	A	118222475	C	A	118222475	3	1	242	1	0	0	0	0	1	0	0	0	8256	710	25	5	2427	5	KIAA1210	23	118222475	Missense_Mutation	SNP	C	TCGA-HT-7481-01A-11D-2024-08	69014180	118222475	37048085	34	26871											
HNRNPCL1	343069	broad.mit.edu	37	1	12908011	12908011	+	Silent	SNP	C	C	T			TCGA-HT-7482-01A-11D-2024-08	TCGA-HT-7482-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	020cf1f1-cb63-4fe4-ac2f-ed85153dba6b	a9c741fd-ede2-4d99-8145-f2e1020b12d9	g.chr1:12908011C>T	ENST00000317869.6	-	2	357	c.132G>A	c.(130-132)gcG>gcA	p.A44A		NM_001013631.1|NM_001136561.2|NM_001146181.1	NP_001013653.1|NP_001130033.2|NP_001139653.1			heterogeneous nuclear ribonucleoprotein C-like 1									p.A44A(1)		NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2)	29						CAGAGCAGCCCGCAATTTTGC	0.478													15	130					0	0	0.500413	0	0	T	12908011	C	T	12908011	2	4	243	1	0	0	0	0	0	0	0	1	7304	639	23	1		1	HNRNPCL1	1	12908011	Silent	SNP	C	TCGA-HT-7482-01A-11D-2024-08		12908011	236342610	1	26872											
IDH1	3417	broad.mit.edu	37	2	209113113	209113113	+	Missense_Mutation	SNP	G	G	C	rs121913499		TCGA-HT-7482-01A-11D-2024-08	TCGA-HT-7482-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	020cf1f1-cb63-4fe4-ac2f-ed85153dba6b	a9c741fd-ede2-4d99-8145-f2e1020b12d9	g.chr2:209113113G>C	ENST00000415913.1	-	4	775	c.394C>G	c.(394-396)Cgt>Ggt	p.R132G	IDH1_ENST00000446179.1_Missense_Mutation_p.R132G|IDH1_ENST00000345146.2_Missense_Mutation_p.R132G	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		TAAGCATGACGACCTATGATG	0.398			Mis		gliobastoma								17	41					0	0	0.539581	0	0	C	209113113	G	C	209113113	3	2	243	1	0	0	0	0	1	0	0	0	7538	1058	37	5	878	5	IDH1	2	209113113	Missense_Mutation	SNP	G	TCGA-HT-7482-01A-11D-2024-08		209113113	34086260	2	26873											
DPPA4	55211	broad.mit.edu	37	3	109049418	109049418	+	Missense_Mutation	SNP	G	G	C			TCGA-HT-7482-01A-11D-2024-08	TCGA-HT-7482-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	020cf1f1-cb63-4fe4-ac2f-ed85153dba6b	a9c741fd-ede2-4d99-8145-f2e1020b12d9	g.chr3:109049418G>C	ENST00000335658.6	-	5	686	c.632C>G	c.(631-633)gCc>gGc	p.A211G	DPPA4_ENST00000478791.1_5'UTR	NM_018189.3	NP_060659.3	Q7L190	DPPA4_HUMAN	developmental pluripotency associated 4	211						nucleus	protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(17)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25						CCTCGCCCTGGCTGAAATTCT	0.522													5	53					0	0	0.184627	0	0	C	109049418	G	C	109049418	3	2	243	1	0	0	0	0	1	0	0	0	4762	1203	42	5	294	5	DPPA4	3	109049418	Missense_Mutation	SNP	G	TCGA-HT-7482-01A-11D-2024-08		109049418	88973012	3	26874											
PLXNA1	5361	broad.mit.edu	37	3	126732904	126732904	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-7482-01A-11D-2024-08	TCGA-HT-7482-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	020cf1f1-cb63-4fe4-ac2f-ed85153dba6b	a9c741fd-ede2-4d99-8145-f2e1020b12d9	g.chr3:126732904C>G	ENST00000393409.2	+	10	2355	c.2355C>G	c.(2353-2355)aaC>aaG	p.N785K	PLXNA1_ENST00000251772.4_Missense_Mutation_p.N762K	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	785					axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		TGCCAGTGAACCTGTCAGTCG	0.632													24	101					0	0	0.693898	0	0	G	126732904	C	G	126732904	3	3	243	1	0	0	0	0	1	0	0	0	12167	506	18	5	2393	5	PLXNA1	3	126732904	Missense_Mutation	SNP	C	TCGA-HT-7482-01A-11D-2024-08	17683486	126732904	71289526	4	26875											
KHDRBS2	202559	broad.mit.edu	37	6	62611243	62611243	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7482-01A-11D-2024-08	TCGA-HT-7482-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	020cf1f1-cb63-4fe4-ac2f-ed85153dba6b	a9c741fd-ede2-4d99-8145-f2e1020b12d9	g.chr6:62611243G>A	ENST00000281156.4	-	5	795	c.517C>T	c.(517-519)Cgt>Tgt	p.R173C		NM_152688.2	NP_689901.2	Q5VWX1	KHDR2_HUMAN	KH domain containing, RNA binding, signal transduction associated 2	173					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	SH3 domain binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1)	49				BRCA - Breast invasive adenocarcinoma(397;0.149)		GATAATTCACGTAGTTGTTCC	0.418													17	24					0	0	0.557998	0	0	A	62611243	G	A	62611243	3	1	243	1	0	0	0	0	1	0	0	0	8189	1145	40	1	552	1	KHDRBS2	6	62611243	Missense_Mutation	SNP	G	TCGA-HT-7482-01A-11D-2024-08		62611243	108503824	5	26876											
SLC2A12	154091	broad.mit.edu	37	6	134350799	134350799	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-7482-01A-11D-2024-08	TCGA-HT-7482-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	020cf1f1-cb63-4fe4-ac2f-ed85153dba6b	a9c741fd-ede2-4d99-8145-f2e1020b12d9	g.chr6:134350799C>G	ENST00000275230.5	-	2	319	c.164G>C	c.(163-165)gGt>gCt	p.G55A		NM_145176.2	NP_660159.1	Q8TD20	GTR12_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 12	55						endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity			NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	17	Breast(56;0.214)|Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.0101)|GBM - Glioblastoma multiforme(68;0.0123)		AAGTTCATAACCCACCAGGAG	0.517													6	32					0	0	0.217242	0	0	G	134350799	C	G	134350799	3	3	243	1	0	0	0	0	1	0	0	0	14596	507	18	5	1705	5	SLC2A12	6	134350799	Missense_Mutation	SNP	C	TCGA-HT-7482-01A-11D-2024-08	71739556	134350799	36764268	6	26877											
INTS1	26173	broad.mit.edu	37	7	1538970	1538970	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HT-7482-01A-11D-2024-08	TCGA-HT-7482-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	020cf1f1-cb63-4fe4-ac2f-ed85153dba6b	a9c741fd-ede2-4d99-8145-f2e1020b12d9	g.chr7:1538970C>A	ENST00000389470.4	-	8	1254	c.1255G>T	c.(1255-1257)Gag>Tag	p.E419*	INTS1_ENST00000404767.3_Nonsense_Mutation_p.E291*			Q8N201	INT1_HUMAN	integrator complex subunit 1	291					snRNA processing	integral to membrane|integrator complex|nuclear membrane				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		TCCTCCTCCTCCGTGAGGGAG	0.697													5	88					3.59834e-05	4.39797e-05	0.217242	1	0	A	1538970	C	A	1538970	4	1	243	1	0	0	0	0	0	1	0	0	7819	864	30	5	5869	5	INTS1	7	1538970	Nonsense_Mutation	SNP	C	TCGA-HT-7482-01A-11D-2024-08		1538970	157599693	7	26878											
VPS41	27072	broad.mit.edu	37	7	38796519	38796519	+	Silent	SNP	G	G	A	rs146405914		TCGA-HT-7482-01A-11D-2024-08	TCGA-HT-7482-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	020cf1f1-cb63-4fe4-ac2f-ed85153dba6b	a9c741fd-ede2-4d99-8145-f2e1020b12d9	g.chr7:38796519G>A	ENST00000310301.4	-	19	1668	c.1614C>T	c.(1612-1614)gaC>gaT	p.D538D	VPS41_ENST00000395969.2_Silent_p.D513D	NM_014396.3	NP_055211.2	P49754	VPS41_HUMAN	vacuolar protein sorting 41 homolog (S. cerevisiae)	538					Golgi vesicle transport|intracellular protein transport|vesicle-mediated transport	cytosol|Golgi-associated vesicle|HOPS complex|membrane fraction	zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	44						ACTGAAAAACGTCTTTATGTC	0.284													9	20					0	0	0.335167	0	0	A	38796519	G	A	38796519	2	1	243	1	0	0	0	0	0	0	0	1	17270	1136	40	1		1	VPS41	7	38796519	Silent	SNP	G	TCGA-HT-7482-01A-11D-2024-08	37257549	38796519	120342144	8	26879											
MET	4233	broad.mit.edu	37	7	116381017	116381017	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HT-7482-01A-11D-2024-08	TCGA-HT-7482-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	020cf1f1-cb63-4fe4-ac2f-ed85153dba6b	a9c741fd-ede2-4d99-8145-f2e1020b12d9	g.chr7:116381017C>T	ENST00000397752.3	+	5	1839	c.1639C>T	c.(1639-1641)Cga>Tga	p.R547*	MET_ENST00000436117.2_Nonsense_Mutation_p.R547*|MET_ENST00000318493.6_Nonsense_Mutation_p.R547*|MET_ENST00000495962.1_3'UTR	NM_000245.2|NM_001127500.1	NP_000236.2|NP_001120972.1	P08581	MET_HUMAN	met proto-oncogene	547					axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			CAAATGTGTGCGATCGGAGGA	0.512			Mis		"papillary renal, head-neck squamous cell "	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)				20	78					0	0	0.608945	0	0	T	116381017	C	T	116381017	4	4	243	1	0	0	0	0	0	1	0	0	9535	760	27	1	1653	1	MET	7	116381017	Nonsense_Mutation	SNP	C	TCGA-HT-7482-01A-11D-2024-08	77584498	116381017	42757646	9	26880											
AKR1B15	441282	broad.mit.edu	37	7	134256364	134256364	+	Missense_Mutation	SNP	T	T	A			TCGA-HT-7482-01A-11D-2024-08	TCGA-HT-7482-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	020cf1f1-cb63-4fe4-ac2f-ed85153dba6b	a9c741fd-ede2-4d99-8145-f2e1020b12d9	g.chr7:134256364T>A	ENST00000457545.2	+	6	704	c.444T>A	c.(442-444)gaT>gaA	p.D148E	AKR1B15_ENST00000423958.1_Missense_Mutation_p.D120E	NM_001080538.2	NP_001074007.2	C9JRZ8	AK1BF_HUMAN	aldo-keto reductase family 1, member B15	148							oxidoreductase activity			endometrium(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|urinary_tract(1)	18						AGACTGGGGATGACTTTTTCC	0.423													13	61					0	0	0.411799	0	0	A	134256364	T	A	134256364	3	1	243	1	0	0	0	0	1	0	0	0	465	1461	51	4	458	4	AKR1B15	7	134256364	Missense_Mutation	SNP	T	TCGA-HT-7482-01A-11D-2024-08	17875347	134256364	24882299	10	26881											
PRDM14	63978	broad.mit.edu	37	8	70981760	70981760	+	Silent	SNP	C	C	T			TCGA-HT-7482-01A-11D-2024-08	TCGA-HT-7482-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	020cf1f1-cb63-4fe4-ac2f-ed85153dba6b	a9c741fd-ede2-4d99-8145-f2e1020b12d9	g.chr8:70981760C>T	ENST00000276594.2	-	2	537	c.336G>A	c.(334-336)ccG>ccA	p.P112P		NM_024504.3	NP_078780.1	Q9GZV8	PRD14_HUMAN	PR domain containing 14	112					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Breast(64;0.193)		Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)			TCAGGAAGGGCGGCACTTCCC	0.632													8	19					0	0	0.27861	0	0	T	70981760	C	T	70981760	2	4	243	1	0	0	0	0	0	0	0	1	12507	755	27	1		1	PRDM14	8	70981760	Silent	SNP	C	TCGA-HT-7482-01A-11D-2024-08		70981760	75382262	11	26882											
KIAA1462	57608	broad.mit.edu	37	10	30316584	30316584	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-7482-01A-11D-2024-08	TCGA-HT-7482-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	020cf1f1-cb63-4fe4-ac2f-ed85153dba6b	a9c741fd-ede2-4d99-8145-f2e1020b12d9	g.chr10:30316584C>G	ENST00000375377.1	-	3	2594	c.2493G>C	c.(2491-2493)ttG>ttC	p.L831F		NM_020848.2	NP_065899.1	Q9P266	K1462_HUMAN	KIAA1462	831										breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						ACTGACTGATCAAATCCCAGG	0.557													14	93					0	0	0.479597	0	0	G	30316584	C	G	30316584	3	3	243	1	0	0	0	0	1	0	0	0	8276	825	29	5	1594	5	KIAA1462	10	30316584	Missense_Mutation	SNP	C	TCGA-HT-7482-01A-11D-2024-08		30316584	105218163	12	26883											
BRSK2	9024	broad.mit.edu	37	11	1477653	1477653	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7482-01A-11D-2024-08	TCGA-HT-7482-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	020cf1f1-cb63-4fe4-ac2f-ed85153dba6b	a9c741fd-ede2-4d99-8145-f2e1020b12d9	g.chr11:1477653G>A	ENST00000308219.9	+	17	2130	c.1744G>A	c.(1744-1746)Gtg>Atg	p.V582M	BRSK2_ENST00000528710.1_Missense_Mutation_p.V522M|BRSK2_ENST00000308230.5_Missense_Mutation_p.V604M|BRSK2_ENST00000526678.1_Missense_Mutation_p.V604M|BRSK2_ENST00000528841.1_Missense_Mutation_p.V582M|BRSK2_ENST00000382179.1_Missense_Mutation_p.V628M|BRSK2_ENST00000531197.1_Missense_Mutation_p.V582M|BRSK2_ENST00000544817.1_Missense_Mutation_p.V277M	NM_001256627.1|NM_003957.3	NP_001243556.1|NP_003948.2	Q8IWQ3	BRSK2_HUMAN	BR serine/threonine kinase 2	582					establishment of cell polarity|neuron differentiation		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			endometrium(4)|large_intestine(1)|lung(5)	10		all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00144)|Lung(200;0.0713)|LUSC - Lung squamous cell carcinoma(625;0.0842)		GGGGCCAGCCGTGTTCCAGAA	0.612													9	11					0	0	0.307466	0	0	A	1477653	G	A	1477653	3	1	243	1	0	0	0	0	1	0	0	0	1526	1145	40	1	1810	1	BRSK2	11	1477653	Missense_Mutation	SNP	G	TCGA-HT-7482-01A-11D-2024-08		1477653	133528863	13	26884											
SLC6A15	55117	broad.mit.edu	37	12	85255483	85255483	+	Silent	SNP	A	A	G			TCGA-HT-7482-01A-11D-2024-08	TCGA-HT-7482-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	020cf1f1-cb63-4fe4-ac2f-ed85153dba6b	a9c741fd-ede2-4d99-8145-f2e1020b12d9	g.chr12:85255483A>G	ENST00000266682.5	-	12	2662	c.2121T>C	c.(2119-2121)gcT>gcC	p.A707A	SLC6A15_ENST00000552192.1_Silent_p.A600A|SLC6A15_ENST00000309283.7_3'UTR	NM_182767.5	NP_877499.1	Q9H2J7	S6A15_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 15	707					cellular nitrogen compound metabolic process|leucine transport|proline transport	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			kidney(1)|large_intestine(18)|lung(15)|ovary(1)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	44						GTCCATTGGGAGCAGTATCCA	0.423													9	118					0	0	0.307466	0	0	G	85255483	A	G	85255483	2	3	243	1	0	0	0	0	0	0	0	1	14733	291	11	3		3	SLC6A15	12	85255483	Silent	SNP	A	TCGA-HT-7482-01A-11D-2024-08		85255483	48596412	14	26885											
SRL	6345	broad.mit.edu	37	16	4242361	4242361	+	Silent	SNP	G	G	A			TCGA-HT-7482-01A-11D-2024-08	TCGA-HT-7482-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	020cf1f1-cb63-4fe4-ac2f-ed85153dba6b	a9c741fd-ede2-4d99-8145-f2e1020b12d9	g.chr16:4242361G>A	ENST00000399609.3	-	6	1227	c.1215C>T	c.(1213-1215)ttC>ttT	p.F405F	SRL_ENST00000537996.1_Silent_p.F363F	NM_001098814.1	NP_001092284.1	Q86TD4	SRCA_HUMAN	sarcalumenin	864	Acidic domain, probably binds calcium (By similarity).					sarcoplasmic reticulum lumen	GTP binding|GTPase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(3)	21						GATTGATGCCGAAGAAGTCCT	0.493													25	39					0	0	0.654019	0	0	A	4242361	G	A	4242361	2	1	243	1	0	0	0	0	0	0	0	1	15206	1049	37	1		1	SRL	16	4242361	Silent	SNP	G	TCGA-HT-7482-01A-11D-2024-08		4242361	86112392	15	26886											
TP53	7157	broad.mit.edu	37	17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	rs121913343		TCGA-HT-7482-01A-11D-2024-08	TCGA-HT-7482-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	020cf1f1-cb63-4fe4-ac2f-ed85153dba6b	a9c741fd-ede2-4d99-8145-f2e1020b12d9	g.chr17:7577121G>A	ENST00000420246.2	-	8	949	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000269305.4_Missense_Mutation_p.R273C|TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.R273C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	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).		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.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			8	19					0	0	0.27861	0	0	A	7577121	G	A	7577121	3	1	243	1	0	0	0	0	1	0	0	0	16442	1087	38	1	469	1	TP53	17	7577121	Missense_Mutation	SNP	G	TCGA-HT-7482-01A-11D-2024-08		7577121	73618089	16	26887											
TP53	7157	broad.mit.edu	37	17	7578475	7578475	+	Missense_Mutation	SNP	G	G	A	rs137852790		TCGA-HT-7482-01A-11D-2024-08	TCGA-HT-7482-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	020cf1f1-cb63-4fe4-ac2f-ed85153dba6b	a9c741fd-ede2-4d99-8145-f2e1020b12d9	g.chr17:7578475G>A	ENST00000420246.2	-	5	587	c.455C>T	c.(454-456)cCg>cTg	p.P152L	TP53_ENST00000445888.2_Missense_Mutation_p.P152L|TP53_ENST00000269305.4_Missense_Mutation_p.P152L|TP53_ENST00000359597.4_Missense_Mutation_p.P152L|TP53_ENST00000413465.2_Missense_Mutation_p.P152L|TP53_ENST00000455263.2_Missense_Mutation_p.P152L	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	152	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		P -> A (in sporadic cancers; somatic mutation).|P -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|P -> Q (in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> S (in sporadic cancers; somatic mutation).|P -> T (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.P152L(66)|p.P152R(8)|p.0?(8)|p.T150fs*16(6)|p.?(5)|p.P153fs*28(5)|p.P152fs*18(5)|p.P152fs*14(5)|p.P152Q(4)|p.P59L(2)|p.P20L(2)|p.P153fs*16(1)|p.P151_V173del23(1)|p.P152_P153del(1)|p.P59R(1)|p.P20R(1)|p.P152fs*28(1)|p.T57fs*16(1)|p.D148_T155delDSTPPPGT(1)|p.T150_P153delTPPP(1)|p.D148fs*23(1)|p.S149fs*72(1)|p.S149fs*17(1)|p.P152fs*27(1)|p.Q144_G154del11(1)|p.Q144fs*16(1)|p.T18fs*16(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GGTGCCGGGCGGGGGTGTGGA	0.612		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)			16	27					0	0	0.500413	0	0	A	7578475	G	A	7578475	3	1	243	1	0	0	0	0	1	0	0	0	16442	1116	39	1	843	1	TP53	17	7578475	Missense_Mutation	SNP	G	TCGA-HT-7482-01A-11D-2024-08	1354	7578475	73616735	17	26888											
CSNK2A1	1457	broad.mit.edu	37	20	464702	464702	+	Missense_Mutation	SNP	G	G	A	rs61747403		TCGA-HT-7482-01A-11D-2024-08	TCGA-HT-7482-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	020cf1f1-cb63-4fe4-ac2f-ed85153dba6b	a9c741fd-ede2-4d99-8145-f2e1020b12d9	g.chr20:464702G>A	ENST00000217244.3	-	14	1454	c.1079C>T	c.(1078-1080)aCc>aTc	p.T360I	CSNK2A1_ENST00000400217.2_Missense_Mutation_p.T224I|CSNK2A1_ENST00000400227.3_Intron|CSNK2A1_ENST00000349736.5_Missense_Mutation_p.T360I	NM_177559.2	NP_808227.1	P68400	CSK21_HUMAN	casein kinase 2, alpha 1 polypeptide	360					axon guidance|Wnt receptor signaling pathway	cytosol|NuRD complex|plasma membrane|Sin3 complex	ATP binding|protein N-terminus binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1)	17		Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.0969)			GGGTGAAGGGGTTGGCACTGA	0.547													3	14					0	0	0.115264	0	0	A	464702	G	A	464702	3	1	243	1	0	0	0	0	1	0	0	0	3982	1261	44	2	100	2	CSNK2A1	20	464702	Missense_Mutation	SNP	G	TCGA-HT-7482-01A-11D-2024-08		464702	62560818	18	26889											
ATRX	546	broad.mit.edu	37	X	76849221	76849221	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7482-01A-11D-2024-08	TCGA-HT-7482-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	020cf1f1-cb63-4fe4-ac2f-ed85153dba6b	a9c741fd-ede2-4d99-8145-f2e1020b12d9	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_000480.3	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	0.363			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						19	52					0	0	0.608945	0	0	C	76849221	T	C	76849221	3	2	243	1	0	0	0	0	1	0	0	0	1206	1792	62	3	1463	3	ATRX	23	76849221	Missense_Mutation	SNP	T	TCGA-HT-7482-01A-11D-2024-08		76849221	78421339	19	26890											
RBM41	55285	broad.mit.edu	37	X	106310757	106310757	+	Nonstop_Mutation	SNP	C	C	A			TCGA-HT-7482-01A-11D-2024-08	TCGA-HT-7482-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	020cf1f1-cb63-4fe4-ac2f-ed85153dba6b	a9c741fd-ede2-4d99-8145-f2e1020b12d9	g.chrX:106310757C>A	ENST00000372479.3	-	7	1272	c.1242G>T	c.(1240-1242)taG>taT	p.*414Y	RBM41_ENST00000372487.1_Intron	NM_018301.3	NP_060771.3	Q96IZ5	RBM41_HUMAN	RNA binding motif protein 41	0							nucleotide binding|RNA binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	13						TATATATATTCTAGCTACCAC	0.378													41	143					9.85913e-13	1.25135e-12	0.847076	1	0	A	106310757	C	A	106310757	4	1	243	1	0	0	0	0	0	0	0	0	13187	924	32	4	12	4	RBM41	23	106310757	Nonstop_Mutation	SNP	C	TCGA-HT-7482-01A-11D-2024-08	29461536	106310757	48959803	20	26891											
HIVEP3	59269	broad.mit.edu	37	1	42049199	42049199	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HT-7483-01A-11D-2024-08	TCGA-HT-7483-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd066a89-fa93-434b-b631-9859aa8e4184	a9641072-aa3c-485d-9c1f-0fd571795e54	g.chr1:42049199G>A	ENST00000372584.1	-	3	2284	c.1270C>T	c.(1270-1272)Cga>Tga	p.R424*	HIVEP3_ENST00000247584.5_Nonsense_Mutation_p.R424*|HIVEP3_ENST00000429157.2_Nonsense_Mutation_p.R424*|HIVEP3_ENST00000372583.1_Nonsense_Mutation_p.R424*	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	424	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	p.R424*(1)		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)				TGTCCTATTCGCCCACACTTG	0.607													20	44					0	0	0.007413	0	0	A	42049199	G	A	42049199	4	1	244	1	0	0	0	0	0	1	0	0	7229	1095	38	1	5974	1	HIVEP3	1	42049199	Nonsense_Mutation	SNP	G	TCGA-HT-7483-01A-11D-2024-08		42049199	207201422	1	26892											
FLAD1	80308	broad.mit.edu	37	1	154965246	154965246	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7483-01A-11D-2024-08	TCGA-HT-7483-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd066a89-fa93-434b-b631-9859aa8e4184	a9641072-aa3c-485d-9c1f-0fd571795e54	g.chr1:154965246A>G	ENST00000292180.3	+	6	1934	c.1612A>G	c.(1612-1614)Atc>Gtc	p.I538V	FLAD1_ENST00000405236.2_Intron|FLAD1_ENST00000368428.1_Missense_Mutation_p.I79V|FLAD1_ENST00000368432.1_Missense_Mutation_p.I441V|FLAD1_ENST00000315144.10_Missense_Mutation_p.I441V|FLAD1_ENST00000295530.2_Intron	NM_025207.4	NP_079483.3	Q8NFF5	FAD1_HUMAN	flavin adenine dinucleotide synthetase 1	538	FAD synthase.				FAD biosynthetic process|Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol	ATP binding|FMN adenylyltransferase activity			endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|ovary(3)|skin(3)	22	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			CCCATACTGTATCCTGTATGA	0.502													38	58					0	0	0.00623	0	0	G	154965246	A	G	154965246	3	3	244	1	0	0	0	0	1	0	0	0	5953	449	16	3	1774	3	FLAD1	1	154965246	Missense_Mutation	SNP	A	TCGA-HT-7483-01A-11D-2024-08	112916047	154965246	94285375	2	26893											
IDH1	3417	broad.mit.edu	37	2	209113113	209113113	+	Missense_Mutation	SNP	G	G	C	rs121913499		TCGA-HT-7483-01A-11D-2024-08	TCGA-HT-7483-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd066a89-fa93-434b-b631-9859aa8e4184	a9641072-aa3c-485d-9c1f-0fd571795e54	g.chr2:209113113G>C	ENST00000415913.1	-	4	775	c.394C>G	c.(394-396)Cgt>Ggt	p.R132G	IDH1_ENST00000446179.1_Missense_Mutation_p.R132G|IDH1_ENST00000345146.2_Missense_Mutation_p.R132G	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		TAAGCATGACGACCTATGATG	0.398			Mis		gliobastoma								24	45					0	0	0.00333	0	0	C	209113113	G	C	209113113	3	2	244	1	0	0	0	0	1	0	0	0	7538	1058	37	5	878	5	IDH1	2	209113113	Missense_Mutation	SNP	G	TCGA-HT-7483-01A-11D-2024-08		209113113	34086260	3	26894											
KCNH8	131096	broad.mit.edu	37	3	19389439	19389439	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7483-01A-11D-2024-08	TCGA-HT-7483-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd066a89-fa93-434b-b631-9859aa8e4184	a9641072-aa3c-485d-9c1f-0fd571795e54	g.chr3:19389439G>A	ENST00000328405.2	+	5	1059	c.793G>A	c.(793-795)Gag>Aag	p.E265K	KCNH8_ENST00000475063.1_3'UTR	NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	265						integral to membrane	two-component sensor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						CATTGCAGTGGAGATTCTTTT	0.393													32	70					0	0	0.013726	0	0	A	19389439	G	A	19389439	3	1	244	1	0	0	0	0	1	0	0	0	8082	1175	41	2	811	2	KCNH8	3	19389439	Missense_Mutation	SNP	G	TCGA-HT-7483-01A-11D-2024-08		19389439	178632991	4	26895											
CASR	846	broad.mit.edu	37	3	122002611	122002611	+	Missense_Mutation	SNP	G	G	A	rs104893712		TCGA-HT-7483-01A-11D-2024-08	TCGA-HT-7483-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd066a89-fa93-434b-b631-9859aa8e4184	a9641072-aa3c-485d-9c1f-0fd571795e54	g.chr3:122002611G>A	ENST00000498619.1	+	7	2278	c.1840G>A	c.(1840-1842)Gag>Aag	p.E614K	CASR_ENST00000490131.1_Missense_Mutation_p.E604K|CASR_ENST00000296154.5_Missense_Mutation_p.E604K	NM_001178065.1	NP_001171536	P41180	CASR_HUMAN	calcium-sensing receptor	604					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	CAAGGAGATCGAGTTTCTGTC	0.517													14	55					0	0	0.001855	0	0	A	122002611	G	A	122002611	3	1	244	1	0	0	0	0	1	0	0	0	2700	1059	37	1	1862	1	CASR	3	122002611	Missense_Mutation	SNP	G	TCGA-HT-7483-01A-11D-2024-08	102613172	122002611	76019819	5	26896											
TLR3	7098	broad.mit.edu	37	4	187004365	187004365	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7483-01A-11D-2024-08	TCGA-HT-7483-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd066a89-fa93-434b-b631-9859aa8e4184	a9641072-aa3c-485d-9c1f-0fd571795e54	g.chr4:187004365A>G	ENST00000296795.3	+	4	1629	c.1525A>G	c.(1525-1527)Acc>Gcc	p.T509A	TLR3_ENST00000504367.1_Missense_Mutation_p.T232A	NM_003265.2	NP_003256.1	O15455	TLR3_HUMAN	toll-like receptor 3						activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|defense response to bacterium|defense response to virus|detection of virus|hyperosmotic response|I-kappaB phosphorylation|inflammatory response|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of osteoclast differentiation|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 3 signaling pathway	endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane	double-stranded RNA binding|transmembrane receptor activity			breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)		TCGTAACTTGACCATTCTGGA	0.443													51	63					0	0	0.01441	0	0	G	187004365	A	G	187004365	3	3	244	1	0	0	0	0	1	0	0	0	16012	275	10	3	1535	3	TLR3	4	187004365	Missense_Mutation	SNP	A	TCGA-HT-7483-01A-11D-2024-08		187004365	4149911	6	26897											
SCD	6319	broad.mit.edu	37	10	102120548	102120548	+	Missense_Mutation	SNP	A	A	C			TCGA-HT-7483-01A-11D-2024-08	TCGA-HT-7483-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd066a89-fa93-434b-b631-9859aa8e4184	a9641072-aa3c-485d-9c1f-0fd571795e54	g.chr10:102120548A>C	ENST00000370355.2	+	6	1319	c.938A>C	c.(937-939)tAc>tCc	p.Y313S		NM_005063.4	NP_005054.3	O00767	ACOD_HUMAN	stearoyl-CoA desaturase (delta-9-desaturase)	313					fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	iron ion binding|stearoyl-CoA 9-desaturase activity			endometrium(1)|large_intestine(3)|lung(5)	9		Colorectal(252;0.0323)		Epithelial(162;1.97e-10)|all cancers(201;1.73e-08)		GCCAGTGAGTACCGCTGGCAC	0.532													5	96					0	0	0.000602	0	0	C	102120548	A	C	102120548	3	2	244	1	0	0	0	0	1	0	0	0	13939	391	14	5	960	5	SCD	10	102120548	Missense_Mutation	SNP	A	TCGA-HT-7483-01A-11D-2024-08		102120548	33414199	7	26898											
PACS1	55690	broad.mit.edu	37	11	65988687	65988687	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7483-01A-11D-2024-08	TCGA-HT-7483-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd066a89-fa93-434b-b631-9859aa8e4184	a9641072-aa3c-485d-9c1f-0fd571795e54	g.chr11:65988687A>G	ENST00000320580.4	+	10	1295	c.1262A>G	c.(1261-1263)aAa>aGa	p.K421R		NM_018026.3	NP_060496.2	Q6VY07	PACS1_HUMAN	phosphofurin acidic cluster sorting protein 1	421					interspecies interaction between organisms|regulation of defense response to virus by virus|viral reproduction	cytosol	protein binding		RBM14/PACS1(2)	breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(8)|ovary(6)|skin(2)|urinary_tract(1)	37						CTCAACAGCAAAGGCAGCCTC	0.642													5	86					0	0	0.000602	0	0	G	65988687	A	G	65988687	3	3	244	1	0	0	0	0	1	0	0	0	11419	14	1	3	1300	3	PACS1	11	65988687	Missense_Mutation	SNP	A	TCGA-HT-7483-01A-11D-2024-08		65988687	69017829	8	26899											
DHCR7	1717	broad.mit.edu	37	11	71152414	71152414	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7483-01A-11D-2024-08	TCGA-HT-7483-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd066a89-fa93-434b-b631-9859aa8e4184	a9641072-aa3c-485d-9c1f-0fd571795e54	g.chr11:71152414G>A	ENST00000355527.3	-	6	761	c.485C>T	c.(484-486)gCt>gTt	p.A162V	DHCR7_ENST00000407721.2_Missense_Mutation_p.A162V	NM_001163817.1|NM_001360.2	NP_001157289.1|NP_001351.2	Q9UBM7	DHCR7_HUMAN	7-dehydrocholesterol reductase	162					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|nuclear outer membrane	7-dehydrocholesterol reductase activity|protein binding			endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(1)|skin(1)	19					NADH(DB00157)	CAGGAGATGAGCGTTTGCAAA	0.547									Smith-Lemli-Opitz syndrome				3	33					0	0	0.004672	0	0	A	71152414	G	A	71152414	3	1	244	1	0	0	0	0	1	0	0	0	4505	971	34	2	958	2	DHCR7	11	71152414	Missense_Mutation	SNP	G	TCGA-HT-7483-01A-11D-2024-08	5163727	71152414	63854102	9	26900											
FGD6	55785	broad.mit.edu	37	12	95604907	95604907	+	Silent	SNP	T	T	G			TCGA-HT-7483-01A-11D-2024-08	TCGA-HT-7483-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd066a89-fa93-434b-b631-9859aa8e4184	a9641072-aa3c-485d-9c1f-0fd571795e54	g.chr12:95604907T>G	ENST00000343958.4	-	2	376	c.153A>C	c.(151-153)gcA>gcC	p.A51A	FGD6_ENST00000546711.1_Silent_p.A51A|FGD6_ENST00000549499.1_Silent_p.A51A	NM_018351.3	NP_060821.3	Q6ZV73	FGD6_HUMAN	FYVE, RhoGEF and PH domain containing 6	51					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						TTGGGGCTATTGCTGGTTTCA	0.458													105	171					0	0	0.01441	0	0	G	95604907	T	G	95604907	2	3	244	1	0	0	0	0	0	0	0	1	5870	1799	63	5		5	FGD6	12	95604907	Silent	SNP	T	TCGA-HT-7483-01A-11D-2024-08		95604907	38246988	10	26901											
CDR2	1039	broad.mit.edu	37	16	22359074	22359074	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-7483-01A-11D-2024-08	TCGA-HT-7483-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd066a89-fa93-434b-b631-9859aa8e4184	a9641072-aa3c-485d-9c1f-0fd571795e54	g.chr16:22359074C>G	ENST00000268383.2	-	5	884	c.577G>C	c.(577-579)Gag>Cag	p.E193Q		NM_001802.1	NP_001793.1	Q01850	CDR2_HUMAN	cerebellar degeneration-related protein 2, 62kDa	193						nucleus	protein binding			endometrium(3)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1)	11				GBM - Glioblastoma multiforme(48;0.0188)		TCATTTTCCTCTTCATCAGGG	0.458													57	60					0	0	0.01441	0	0	G	22359074	C	G	22359074	3	3	244	1	0	0	0	0	1	0	0	0	3194	922	32	4	791	4	CDR2	16	22359074	Missense_Mutation	SNP	C	TCGA-HT-7483-01A-11D-2024-08		22359074	67995679	11	26902											
TP53	7157	broad.mit.edu	37	17	7577551	7577551	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-7483-01A-11D-2024-08	TCGA-HT-7483-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd066a89-fa93-434b-b631-9859aa8e4184	a9641072-aa3c-485d-9c1f-0fd571795e54	g.chr17:7577551C>G	ENST00000420246.2	-	7	862	c.730G>C	c.(730-732)Ggc>Cgc	p.G244R	TP53_ENST00000455263.2_Missense_Mutation_p.G244R|TP53_ENST00000269305.4_Missense_Mutation_p.G244R|TP53_ENST00000413465.2_Missense_Mutation_p.G244R|TP53_ENST00000359597.4_Missense_Mutation_p.G244R|TP53_ENST00000445888.2_Missense_Mutation_p.G244R	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	244	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		G -> A (in sporadic cancers; somatic mutation).|G -> C (in sporadic cancers; somatic mutation).|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934572).|G -> E (in a sporadic cancer; somatic mutation).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in sporadic cancers; somatic mutation).|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation).|MG -> IC (in a sporadic cancer; somatic mutation).|MG -> IS (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.G244C(45)|p.G244S(38)|p.0?(8)|p.G244R(6)|p.?(5)|p.G244fs*3(4)|p.G151C(4)|p.G244fs*4(3)|p.M243_G244>IC(1)|p.G244fs*19(1)|p.G244fs*17(1)|p.M243fs*18(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.C242_M246>L(1)|p.G244del(1)|p.G151S(1)|p.G151fs*4(1)|p.C238_M246delCNSSCMGGM(1)|p.G151R(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)		TTCATGCCGCCCATGCAGGAA	0.582		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)			52	11					0	0	0.01441	0	0	G	7577551	C	G	7577551	3	3	244	1	0	0	0	0	1	0	0	0	16442	623	22	5	560	5	TP53	17	7577551	Missense_Mutation	SNP	C	TCGA-HT-7483-01A-11D-2024-08		7577551	73617659	12	26903											
C17orf47	284083	broad.mit.edu	37	17	56620284	56620284	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7483-01A-11D-2024-08	TCGA-HT-7483-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd066a89-fa93-434b-b631-9859aa8e4184	a9641072-aa3c-485d-9c1f-0fd571795e54	g.chr17:56620284C>T	ENST00000321691.3	-	1	1445	c.1264G>A	c.(1264-1266)Gga>Aga	p.G422R	RP11-112H10.4_ENST00000580769.1_RNA|RP11-112H10.4_ENST00000578022.1_RNA|RP11-112H10.4_ENST00000580589.1_RNA	NM_001038704.2	NP_001033793	Q8NEP4	CQ047_HUMAN	chromosome 17 open reading frame 47	422										NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	24	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GAGTCAGGTCCGTACCTAGGT	0.547													38	64					0	0	0.005524	0	0	T	56620284	C	T	56620284	3	4	244	1	0	0	0	0	1	0	0	0	1867	661	23	1	456	1	C17orf47	17	56620284	Missense_Mutation	SNP	C	TCGA-HT-7483-01A-11D-2024-08	49042733	56620284	24574926	13	26904											
PAPL	390928	broad.mit.edu	37	19	39591277	39591277	+	Missense_Mutation	SNP	G	G	C	rs149656463	byFrequency	TCGA-HT-7483-01A-11D-2024-08	TCGA-HT-7483-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd066a89-fa93-434b-b631-9859aa8e4184	a9641072-aa3c-485d-9c1f-0fd571795e54	g.chr19:39591277G>C	ENST00000331256.5	+	6	961	c.687G>C	c.(685-687)tgG>tgC	p.W229C	PAPL_ENST00000594229.1_Missense_Mutation_p.G188A	NM_001004318.2	NP_001004318.2	Q6ZNF0	PAPL_HUMAN		229						extracellular region	acid phosphatase activity|metal ion binding										AGGGCCTGTGGTACAGGTAAT	0.572													38	62					0	0	0.009718	0	0	C	39591277	G	C	39591277	3	2	244	1	0	0	0	0	1	0	0	0	11474	1270	44	5	705	5	PAPL	19	39591277	Missense_Mutation	SNP	G	TCGA-HT-7483-01A-11D-2024-08		39591277	19537706	14	26905											
ADRA1D	146	broad.mit.edu	37	20	4202427	4202427	+	Silent	SNP	G	G	T			TCGA-HT-7483-01A-11D-2024-08	TCGA-HT-7483-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd066a89-fa93-434b-b631-9859aa8e4184	a9641072-aa3c-485d-9c1f-0fd571795e54	g.chr20:4202427G>T	ENST00000379453.4	-	2	1578	c.1462C>A	c.(1462-1464)Cga>Aga	p.R488R		NM_000678.3	NP_000669.1	P25100	ADA1D_HUMAN	adrenoceptor alpha 1D	488					cell proliferation|cell-cell signaling|DNA metabolic process|G-protein signaling, coupled to cAMP nucleotide second messenger|multicellular organismal development|positive regulation of cell proliferation	integral to plasma membrane	alpha1-adrenergic receptor activity			endometrium(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	14					Alfuzosin(DB00346)|Bethanidine(DB00217)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Doxazosin(DB00590)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Methotrimeprazine(DB01403)|Norepinephrine(DB00368)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)	GGTGGCTTTCGACGGCTGGCG	0.736													6	5					2.7689e-08	3.30138e-08	0.001984	1	0	T	4202427	G	T	4202427	2	4	244	1	0	0	0	0	0	0	0	1	335	1066	37	5		5	ADRA1D	20	4202427	Silent	SNP	G	TCGA-HT-7483-01A-11D-2024-08		4202427	58823093	15	26906											
CDH4	1002	broad.mit.edu	37	20	60419758	60419758	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7483-01A-11D-2024-08	TCGA-HT-7483-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd066a89-fa93-434b-b631-9859aa8e4184	a9641072-aa3c-485d-9c1f-0fd571795e54	g.chr20:60419758G>A	ENST00000360469.5	+	5	699	c.611G>A	c.(610-612)cGg>cAg	p.R204Q	CDH4_ENST00000543233.1_Missense_Mutation_p.R130Q	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	204	Cadherin 1.				adherens junction organization|cell junction assembly		calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			ATCCCCATCCGGTACAGCATC	0.607													9	58					0	0	0.008291	0	0	A	60419758	G	A	60419758	3	1	244	1	0	0	0	0	1	0	0	0	3134	1116	39	1	629	1	CDH4	20	60419758	Missense_Mutation	SNP	G	TCGA-HT-7483-01A-11D-2024-08	56217331	60419758	2605762	16	26907											
ATRX	546	broad.mit.edu	37	X	76814319	76814319	+	Splice_Site	SNP	T	T	C			TCGA-HT-7483-01A-11D-2024-08	TCGA-HT-7483-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd066a89-fa93-434b-b631-9859aa8e4184	a9641072-aa3c-485d-9c1f-0fd571795e54	g.chrX:76814319T>C	ENST00000373344.5	-	29	6541		c.e29-2		ATRX_ENST00000480283.1_Splice_Site|ATRX_ENST00000395603.3_Splice_Site	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked						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)	AATCGTCCTCTGAAAATGAAA	0.274			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						21	9					0	0	0.012319	0	0	C	76814319	T	C	76814319	5	2	244	1	0	0	0	0	0	0	1	0	1206	1594	55	3	1181	3	ATRX	23	76814319	Splice_Site	SNP	T	TCGA-HT-7483-01A-11D-2024-08		76814319	78456241	17	26908											
LRP2	4036	broad.mit.edu	37	2	170093662	170093662	+	Missense_Mutation	SNP	T	T	C	rs140722973	by1000genomes	TCGA-HT-7485-01A-11D-2024-08	TCGA-HT-7485-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d430d8-4932-45cf-b3c8-68c71b66f791	316fe91a-955f-4b60-ad58-0aa32781a502	g.chr2:170093662T>C	ENST00000263816.3	-	28	4927	c.4642A>G	c.(4642-4644)Agt>Ggt	p.S1548G		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	1548					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	AGGTTTTTACTAATCAGCACA	0.383													37	60					0	0	1	0	0	C	170093662	T	C	170093662	3	2	245	1	0	0	0	0	1	0	0	0	9001	1522	53	3	9533	3	LRP2	2	170093662	Missense_Mutation	SNP	T	TCGA-HT-7485-01A-11D-2024-08		170093662	73105711	1	26909											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-HT-7485-01A-11D-2024-08	TCGA-HT-7485-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d430d8-4932-45cf-b3c8-68c71b66f791	316fe91a-955f-4b60-ad58-0aa32781a502	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								18	35					0	0	1	0	0	T	209113112	C	T	209113112	3	4	245	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HT-7485-01A-11D-2024-08	39019450	209113112	34086261	2	26910											
WDFY3	23001	broad.mit.edu	37	4	85612906	85612906	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7485-01A-11D-2024-08	TCGA-HT-7485-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d430d8-4932-45cf-b3c8-68c71b66f791	316fe91a-955f-4b60-ad58-0aa32781a502	g.chr4:85612906T>C	ENST00000322366.6	-	59	9438	c.9031A>G	c.(9031-9033)Aca>Gca	p.T3011A	WDFY3_ENST00000295888.4_Missense_Mutation_p.T3028A			Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	3028						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		CCTTTATCTGTACATACGATT	0.388													21	36					0	0	1	0	0	C	85612906	T	C	85612906	3	2	245	1	0	0	0	0	1	0	0	0	17330	1638	57	3	1534	3	WDFY3	4	85612906	Missense_Mutation	SNP	T	TCGA-HT-7485-01A-11D-2024-08		85612906	105541370	3	26911											
ABCC10	89845	broad.mit.edu	37	6	43403556	43403556	+	Missense_Mutation	SNP	A	A	G	rs114002465	by1000genomes	TCGA-HT-7485-01A-11D-2024-08	TCGA-HT-7485-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d430d8-4932-45cf-b3c8-68c71b66f791	316fe91a-955f-4b60-ad58-0aa32781a502	g.chr6:43403556A>G	ENST00000244533.3	+	3	1906	c.1547A>G	c.(1546-1548)aAt>aGt	p.N516S	ABCC10_ENST00000372530.4_Missense_Mutation_p.N559S	NM_033450.2	NP_258261.2	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	559	ABC transmembrane type-1 1.					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			TGGGTGATCAATGGTCTCCTG	0.572													26	40					0	0	1	0	0	G	43403556	A	G	43403556	3	3	245	1	0	0	0	0	1	0	0	0	50	101	4	3	1557	3	ABCC10	6	43403556	Missense_Mutation	SNP	A	TCGA-HT-7485-01A-11D-2024-08		43403556	127711511	4	26912											
LGSN	51557	broad.mit.edu	37	6	63990506	63990506	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7485-01A-11D-2024-08	TCGA-HT-7485-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d430d8-4932-45cf-b3c8-68c71b66f791	316fe91a-955f-4b60-ad58-0aa32781a502	g.chr6:63990506C>T	ENST00000370657.4	-	4	983	c.950G>A	c.(949-951)aGt>aAt	p.S317N	LGSN_ENST00000370658.5_Splice_Site			Q5TDP6	LGSN_HUMAN	lengsin, lens protein with glutamine synthetase domain	317					glutamine biosynthetic process		glutamate-ammonia ligase activity			NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34					L-Glutamic Acid(DB00142)	ATCCCAGAGACTATGAGACAA	0.433													22	37					0	0	1	0	0	T	63990506	C	T	63990506	3	4	245	1	0	0	0	0	1	0	0	0	8799	579	20	2	583	2	LGSN	6	63990506	Missense_Mutation	SNP	C	TCGA-HT-7485-01A-11D-2024-08	20586950	63990506	107124561	5	26913											
TRIP6	7205	broad.mit.edu	37	7	100469261	100469261	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7485-01A-11D-2024-08	TCGA-HT-7485-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d430d8-4932-45cf-b3c8-68c71b66f791	316fe91a-955f-4b60-ad58-0aa32781a502	g.chr7:100469261G>A	ENST00000200457.4	+	7	1456	c.1096G>A	c.(1096-1098)Gtg>Atg	p.V366M		NM_003302.2	NP_003293.2	Q15654	TRIP6_HUMAN	thyroid hormone receptor interactor 6	366	LIM zinc-binding 2.				focal adhesion assembly|positive regulation of cell migration|regulation of transcription, DNA-dependent|release of cytoplasmic sequestered NF-kappaB|transcription, DNA-dependent	cytoplasm|cytoskeleton|focal adhesion|nucleus	identical protein binding|interleukin-1 receptor binding|kinase binding|thyroid hormone receptor binding|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|liver(1)|lung(5)	14	Lung NSC(181;0.041)|all_lung(186;0.0581)					CTTCACCTGCGTGGTGTGTCA	0.632													21	45					0	0	1	0	0	A	100469261	G	A	100469261	3	1	245	1	0	0	0	0	1	0	0	0	16620	1145	40	1	1122	1	TRIP6	7	100469261	Missense_Mutation	SNP	G	TCGA-HT-7485-01A-11D-2024-08		100469261	58669402	6	26914											
VWF	7450	broad.mit.edu	37	12	6155976	6155976	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7485-01A-11D-2024-08	TCGA-HT-7485-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d430d8-4932-45cf-b3c8-68c71b66f791	316fe91a-955f-4b60-ad58-0aa32781a502	g.chr12:6155976C>T	ENST00000261405.5	-	17	2448	c.2194G>A	c.(2194-2196)Gag>Aag	p.E732K		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	732					blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	AAGCCATCCTCACAGTAGCTG	0.557													3	30					0	0	1	0	0	T	6155976	C	T	6155976	3	4	245	1	0	0	0	0	1	0	0	0	17306	835	29	2	6391	2	VWF	12	6155976	Missense_Mutation	SNP	C	TCGA-HT-7485-01A-11D-2024-08		6155976	127695919	7	26915											
EMG1	10436	broad.mit.edu	37	12	7080212	7080213	+	Splice_Site	INS	-	-	C	rs36063533		TCGA-HT-7485-01A-11D-2024-08	TCGA-HT-7485-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d430d8-4932-45cf-b3c8-68c71b66f791	316fe91a-955f-4b60-ad58-0aa32781a502	g.chr12:7080212_7080213insC	ENST00000261406.6	+	2	267_268	c.124_125insC	c.(124-126)ttt>tCtt	p.F42fs	EMG1_ENST00000546220.1_3'UTR	NM_006331.7	NP_006322.4	Q92979	NEP1_HUMAN	EMG1 N1-specific pseudouridine methyltransferase						ribosomal small subunit biogenesis	cytoplasm|nucleolus	rRNA (pseudouridine) methyltransferase activity|rRNA binding										GAGGCCGTAGTTTATTGTGGTG	0.569													4	8	---	---	---	---						C	7080213	-	C	7080212	8	5	245	1	0	1	1	0	0	0	1	0	5118	1722	60	0	128	0	EMG1	12	7080212	Splice_Site	INS	-	TCGA-HT-7485-01A-11D-2024-08	924236	7080212	126771683	8	26916											
MCTP2	55784	broad.mit.edu	37	15	94901781	94901781	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7485-01A-11D-2024-08	TCGA-HT-7485-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d430d8-4932-45cf-b3c8-68c71b66f791	316fe91a-955f-4b60-ad58-0aa32781a502	g.chr15:94901781G>A	ENST00000357742.4	+	9	1241	c.1241G>A	c.(1240-1242)gGc>gAc	p.G414D	MCTP2_ENST00000331706.4_Missense_Mutation_p.G2D|MCTP2_ENST00000451018.3_Missense_Mutation_p.G414D|MCTP2_ENST00000543482.1_Silent_p.G392G|MCTP2_ENST00000557742.1_Missense_Mutation_p.G2D	NM_018349.3	NP_060819.3	Q6DN12	MCTP2_HUMAN	multiple C2 domains, transmembrane 2	414	C2 2.				calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			GACAGGATGGGCATTTTGGAC	0.453													15	25					0	0	1	0	0	A	94901781	G	A	94901781	3	1	245	1	0	0	0	0	1	0	0	0	9451	1203	42	2	1275	2	MCTP2	15	94901781	Missense_Mutation	SNP	G	TCGA-HT-7485-01A-11D-2024-08		94901781	7629611	9	26917											
ACAP1	9744	broad.mit.edu	37	17	7250531	7250531	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7485-01A-11D-2024-08	TCGA-HT-7485-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d430d8-4932-45cf-b3c8-68c71b66f791	316fe91a-955f-4b60-ad58-0aa32781a502	g.chr17:7250531C>T	ENST00000158762.3	+	14	1519	c.1313C>T	c.(1312-1314)aCc>aTc	p.T438I		NM_014716.3	NP_055531.1	Q15027	ACAP1_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 1	438	Arf-GAP.|Required for interaction with GULP1.				intracellular signal transduction|lipid metabolic process|protein transport|regulation of ARF GTPase activity		ARF GTPase activator activity|phospholipase C activity|protein binding|zinc ion binding			NS(1)|breast(5)|cervix(3)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(3)|skin(1)|urinary_tract(1)	33						CTTGGTGTCACCCTCTGCATT	0.642													26	14					0	0	1	0	0	T	7250531	C	T	7250531	3	4	245	1	0	0	0	0	1	0	0	0	118	507	18	2	1367	2	ACAP1	17	7250531	Missense_Mutation	SNP	C	TCGA-HT-7485-01A-11D-2024-08		7250531	73944679	10	26918											
TP53	7157	broad.mit.edu	37	17	7578203	7578203	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7485-01A-11D-2024-08	TCGA-HT-7485-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d430d8-4932-45cf-b3c8-68c71b66f791	316fe91a-955f-4b60-ad58-0aa32781a502	g.chr17:7578203C>T	ENST00000420246.2	-	6	778	c.646G>A	c.(646-648)Gtg>Atg	p.V216M	TP53_ENST00000455263.2_Missense_Mutation_p.V216M|TP53_ENST00000574684.1_Intron|TP53_ENST00000413465.2_Missense_Mutation_p.V216M|TP53_ENST00000445888.2_Missense_Mutation_p.V216M|TP53_ENST00000269305.4_Missense_Mutation_p.V216M|TP53_ENST00000359597.4_Missense_Mutation_p.V216M	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	216	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		V -> A (in sporadic cancers; somatic mutation).|V -> E (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).|V -> M (in sporadic cancers; somatic mutation).|V -> W (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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.V216M(61)|p.V216del(8)|p.0?(8)|p.V216L(7)|p.?(5)|p.V84M(3)|p.V123M(3)|p.V216fs*6(2)|p.H214fs*5(2)|p.V216fs*32(1)|p.V216fs*33(1)|p.S215fs*27(1)|p.S215fs*29(1)|p.V216fs*5(1)|p.V216_Y220delVVVPY(1)|p.D208_V216delDRNTFRHSV(1)|p.D208fs*1(1)|p.S215fs*31(1)|p.S215_V216insX(1)|p.T211fs*28(1)|p.D207_V216del10(1)|p.S215_V218>R(1)|p.S215_V218>M(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)		GGCACCACCACACTATGTCGA	0.537		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)			18	4					0	0	1	0	0	T	7578203	C	T	7578203	3	4	245	1	0	0	0	0	1	0	0	0	16442	478	17	2	648	2	TP53	17	7578203	Missense_Mutation	SNP	C	TCGA-HT-7485-01A-11D-2024-08	327672	7578203	73617007	11	26919											
MYH10	4628	broad.mit.edu	37	17	8424575	8424575	+	Silent	SNP	G	G	A			TCGA-HT-7485-01A-11D-2024-08	TCGA-HT-7485-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d430d8-4932-45cf-b3c8-68c71b66f791	316fe91a-955f-4b60-ad58-0aa32781a502	g.chr17:8424575G>A	ENST00000360416.3	-	18	2124	c.1986C>T	c.(1984-1986)gtC>gtT	p.V662V	MYH10_ENST00000396239.1_Silent_p.V652V|MYH10_ENST00000269243.4_Silent_p.V631V|MYH10_ENST00000379980.4_Silent_p.V647V	NM_001256012.1	NP_001242941.1	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	631	Myosin head-like.				actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						TCATACCAGTGACTTGATCCA	0.463													32	63					0	0	1	0	0	A	8424575	G	A	8424575	2	1	245	1	0	0	0	0	0	0	0	1	10078	1277	45	2		2	MYH10	17	8424575	Silent	SNP	G	TCGA-HT-7485-01A-11D-2024-08	846372	8424575	72770635	12	26920											
DSC1	1823	broad.mit.edu	37	18	28725703	28725703	+	Silent	SNP	G	G	A			TCGA-HT-7485-01A-11D-2024-08	TCGA-HT-7485-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d430d8-4932-45cf-b3c8-68c71b66f791	316fe91a-955f-4b60-ad58-0aa32781a502	g.chr18:28725703G>A	ENST00000257197.3	-	7	1071	c.810C>T	c.(808-810)gaC>gaT	p.D270D	DSC1_ENST00000257198.5_Silent_p.D270D|RP11-408H20.2_ENST00000581836.1_RNA	NM_004948.3	NP_004939.1	Q08554	DSC1_HUMAN	desmocollin 1	270	Cadherin 2.				homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			TGTCAGGTTCGTCAAGGTCTG	0.368													4	65					0	0	1	0	0	A	28725703	G	A	28725703	2	1	245	1	0	0	0	0	0	0	0	1	4791	1136	40	1		1	DSC1	18	28725703	Silent	SNP	G	TCGA-HT-7485-01A-11D-2024-08		28725703	49351545	13	26921											
SEMA6B	10501	broad.mit.edu	37	19	4556083	4556083	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7485-01A-11D-2024-08	TCGA-HT-7485-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d430d8-4932-45cf-b3c8-68c71b66f791	316fe91a-955f-4b60-ad58-0aa32781a502	g.chr19:4556083C>T	ENST00000586582.1	-	6	698	c.388G>A	c.(388-390)Gta>Ata	p.V130I	SEMA6B_ENST00000586965.1_Missense_Mutation_p.V130I|SEMA6B_ENST00000301293.3_Missense_Mutation_p.V130I	NM_032108.3	NP_115484.2	Q9H3T3	SEM6B_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6B	130	Sema.				cell differentiation|nervous system development	integral to membrane	receptor activity			breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		AGCACCTTTACGAAGTTTCGA	0.607													6	32					0	0	1	0	0	T	4556083	C	T	4556083	3	4	245	1	0	0	0	0	1	0	0	0	14094	536	19	1	2326	1	SEMA6B	19	4556083	Missense_Mutation	SNP	C	TCGA-HT-7485-01A-11D-2024-08		4556083	54572900	14	26922											
ATRX	546	broad.mit.edu	37	X	76940489	76940489	+	Nonsense_Mutation	SNP	T	T	A			TCGA-HT-7485-01A-11D-2024-08	TCGA-HT-7485-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d430d8-4932-45cf-b3c8-68c71b66f791	316fe91a-955f-4b60-ad58-0aa32781a502	g.chrX:76940489T>A	ENST00000373344.5	-	8	818	c.604A>T	c.(604-606)Aag>Tag	p.K202*	ATRX_ENST00000395603.3_Nonsense_Mutation_p.K164*|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	202	ADD.				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)	ATGTAATACTTAAAGCAATTC	0.284			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						49	8					0	0	1	0	0	A	76940489	T	A	76940489	4	1	245	1	0	0	0	0	0	1	0	0	1206	1763	61	5	6986	5	ATRX	23	76940489	Nonsense_Mutation	SNP	T	TCGA-HT-7485-01A-11D-2024-08		76940489	78330071	15	26923											
GPR112	139378	broad.mit.edu	37	X	135432487	135432487	+	Missense_Mutation	SNP	G	G	C			TCGA-HT-7485-01A-11D-2024-08	TCGA-HT-7485-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d430d8-4932-45cf-b3c8-68c71b66f791	316fe91a-955f-4b60-ad58-0aa32781a502	g.chrX:135432487G>C	ENST00000394143.1	+	6	6913	c.6622G>C	c.(6622-6624)Gtg>Ctg	p.V2208L	GPR112_ENST00000370652.1_Missense_Mutation_p.V2208L|GPR112_ENST00000394141.1_Missense_Mutation_p.V2003L|GPR112_ENST00000287534.4_Missense_Mutation_p.V2145L|GPR112_ENST00000412101.1_Missense_Mutation_p.V2003L	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	2208					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					TACAGCAACTGTGTCTTCACC	0.453													5	55					0	0	1	0	0	C	135432487	G	C	135432487	3	2	245	1	0	0	0	0	1	0	0	0	6669	1377	48	5	6632	5	GPR112	23	135432487	Missense_Mutation	SNP	G	TCGA-HT-7485-01A-11D-2024-08	58491998	135432487	19838073	16	26924											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-HT-7601-01A-11D-2086-08	TCGA-HT-7601-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61c1c39b-845d-4939-8f36-e74df0b879f4	1f027233-400d-4586-91d7-02f137b0a7d9	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								29	85					0	0	1	0	0	T	209113112	C	T	209113112	3	4	246	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HT-7601-01A-11D-2086-08		209113112	34086261	1	26925											
PLD1	5337	broad.mit.edu	37	3	171427368	171427368	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7601-01A-11D-2086-08	TCGA-HT-7601-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61c1c39b-845d-4939-8f36-e74df0b879f4	1f027233-400d-4586-91d7-02f137b0a7d9	g.chr3:171427368T>C	ENST00000356327.5	-	10	1113	c.1043A>G	c.(1042-1044)gAg>gGg	p.E348G	PLD1_ENST00000340989.4_Missense_Mutation_p.E348G|PLD1_ENST00000342215.6_Missense_Mutation_p.E348G|PLD1_ENST00000351298.4_Missense_Mutation_p.E348G	NM_001130081.2	NP_001123553.1	Q13393	PLD1_HUMAN	phospholipase D1, phosphatidylcholine-specific	348					cell communication|chemotaxis|Ras protein signal transduction	endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	TAAAGCATTCTCTTGGATAGC	0.413													34	84					0	0	1	0	0	C	171427368	T	C	171427368	3	2	246	1	0	0	0	0	1	0	0	0	12093	1551	54	3	2253	3	PLD1	3	171427368	Missense_Mutation	SNP	T	TCGA-HT-7601-01A-11D-2086-08		171427368	26595062	2	26926											
APBB2	323	broad.mit.edu	37	4	41015610	41015610	+	Silent	SNP	C	C	T			TCGA-HT-7601-01A-11D-2086-08	TCGA-HT-7601-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61c1c39b-845d-4939-8f36-e74df0b879f4	1f027233-400d-4586-91d7-02f137b0a7d9	g.chr4:41015610C>T	ENST00000295974.8	-	6	1454	c.825G>A	c.(823-825)ccG>ccA	p.P275P	APBB2_ENST00000513140.1_Silent_p.P275P|APBB2_ENST00000506352.1_Silent_p.P275P|APBB2_ENST00000508593.1_Silent_p.P275P	NM_001166050.1|NM_004307.1	NP_001159522.1|NP_004298.1	Q92870	APBB2_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 2	275					cell cycle arrest|intracellular signal transduction|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|regulation of transcription, DNA-dependent	growth cone|lamellipodium|membrane|nucleus|synapse	beta-amyloid binding|transcription factor binding			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|skin(2)|urinary_tract(1)	34						CTGTTTCATCCGGGGAGCTGG	0.512													54	142					0	0	1	0	0	T	41015610	C	T	41015610	2	4	246	1	0	0	0	0	0	0	0	1	757	639	23	1		1	APBB2	4	41015610	Silent	SNP	C	TCGA-HT-7601-01A-11D-2086-08		41015610	150138666	3	26927											
GABRA1	2554	broad.mit.edu	37	5	161324271	161324271	+	Missense_Mutation	SNP	A	A	T			TCGA-HT-7601-01A-11D-2086-08	TCGA-HT-7601-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61c1c39b-845d-4939-8f36-e74df0b879f4	1f027233-400d-4586-91d7-02f137b0a7d9	g.chr5:161324271A>T	ENST00000428797.2	+	11	1569	c.1214A>T	c.(1213-1215)aAa>aTa	p.K405I	GABRA1_ENST00000420560.1_Missense_Mutation_p.K405I|GABRA1_ENST00000023897.6_Missense_Mutation_p.K405I|GABRA1_ENST00000393943.4_Missense_Mutation_p.K405I|GABRA1_ENST00000444819.1_Missense_Mutation_p.K405I|GABRA1_ENST00000437025.2_Missense_Mutation_p.K405I	NM_001127643.1	NP_001121115.1	P14867	GBRA1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 1	405					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425)	CCCGAAACAAAACCACCAGAA	0.473													5	118					0	0	1	0	0	T	161324271	A	T	161324271	3	4	246	1	0	0	0	0	1	0	0	0	6195	14	1	5	1248	5	GABRA1	5	161324271	Missense_Mutation	SNP	A	TCGA-HT-7601-01A-11D-2086-08		161324271	19590989	4	26928											
UHRF1BP1	54887	broad.mit.edu	37	6	34803152	34803152	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HT-7601-01A-11D-2086-08	TCGA-HT-7601-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61c1c39b-845d-4939-8f36-e74df0b879f4	1f027233-400d-4586-91d7-02f137b0a7d9	g.chr6:34803152delA	ENST00000192788.5	+	7	922	c.751delA	c.(751-753)aagfs	p.K251fs	UHRF1BP1_ENST00000452449.2_Frame_Shift_Del_p.K251fs	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	251										breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						CTCACAGCTCAAGGCTATGAT	0.493													11	162	---	---	---	---						-	34803152	A	-	34803152	7	5	246	1	0	1	0	1	0	0	0	0	17028	131	5	0	777	0	UHRF1BP1	6	34803152	Frame_Shift_Del	DEL	A	TCGA-HT-7601-01A-11D-2086-08		34803152	136311915	5	26929											
AOAH	313	broad.mit.edu	37	7	36570027	36570027	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HT-7601-01A-11D-2086-08	TCGA-HT-7601-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61c1c39b-845d-4939-8f36-e74df0b879f4	1f027233-400d-4586-91d7-02f137b0a7d9	g.chr7:36570027C>A	ENST00000431169.1	-	19	1819	c.1519G>T	c.(1519-1521)Gaa>Taa	p.E507*	AOAH_ENST00000538464.1_Nonsense_Mutation_p.E229*|AOAH_ENST00000258749.5_Nonsense_Mutation_p.E507*|AOAH_ENST00000535891.1_Nonsense_Mutation_p.E475*	NM_001177506.1	NP_001170977.1	P28039	AOAH_HUMAN	acyloxyacyl hydrolase (neutrophil)	507					inflammatory response|lipid metabolic process	extracellular region	acyloxyacyl hydrolase activity|lipoprotein lipase activity			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(21)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	41						TACTTACTTTCATGGAAGGCA	0.408													4	71					0.150653	0.150653	1	1	0	A	36570027	C	A	36570027	4	1	246	1	0	0	0	0	0	1	0	0	722	835	29	5	561	5	AOAH	7	36570027	Nonsense_Mutation	SNP	C	TCGA-HT-7601-01A-11D-2086-08		36570027	122568636	6	26930											
NOM1	64434	broad.mit.edu	37	7	156742958	156742958	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7601-01A-11D-2086-08	TCGA-HT-7601-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61c1c39b-845d-4939-8f36-e74df0b879f4	1f027233-400d-4586-91d7-02f137b0a7d9	g.chr7:156742958T>C	ENST00000275820.3	+	1	542	c.527T>C	c.(526-528)tTa>tCa	p.L176S		NM_138400.1	NP_612409.1	Q5C9Z4	NOM1_HUMAN	nucleolar protein with MIF4G domain 1	176	Necessary for nucleolar localization and for targeting PPP1CA to the nucleolus.				RNA metabolic process	nucleolus	protein binding			endometrium(5)|kidney(4)|large_intestine(9)|lung(7)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	31	Ovarian(565;0.218)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		CGGGCGCTTTTAGCGGCGAAC	0.672													18	62					0	0	1	0	0	C	156742958	T	C	156742958	3	2	246	1	0	0	0	0	1	0	0	0	10577	1764	61	3	529	3	NOM1	7	156742958	Missense_Mutation	SNP	T	TCGA-HT-7601-01A-11D-2086-08	120172931	156742958	2395705	7	26931											
KCNB2	9312	broad.mit.edu	37	8	73849082	73849082	+	Missense_Mutation	SNP	G	G	C			TCGA-HT-7601-01A-11D-2086-08	TCGA-HT-7601-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61c1c39b-845d-4939-8f36-e74df0b879f4	1f027233-400d-4586-91d7-02f137b0a7d9	g.chr8:73849082G>C	ENST00000523207.1	+	3	2080	c.1492G>C	c.(1492-1494)Gct>Cct	p.A498P		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	498					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)			GGCCAGGAAGGCTCTGTCGGA	0.542													36	94					0	0	1	0	0	C	73849082	G	C	73849082	3	2	246	1	0	0	0	0	1	0	0	0	8057	1203	42	5	1498	5	KCNB2	8	73849082	Missense_Mutation	SNP	G	TCGA-HT-7601-01A-11D-2086-08		73849082	72514940	8	26932											
TCEB1	6921	broad.mit.edu	37	8	74858991	74858991	+	Silent	SNP	C	C	T			TCGA-HT-7601-01A-11D-2086-08	TCGA-HT-7601-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61c1c39b-845d-4939-8f36-e74df0b879f4	1f027233-400d-4586-91d7-02f137b0a7d9	g.chr8:74858991C>T	ENST00000518127.1	-	4	305	c.213G>A	c.(211-213)tcG>tcA	p.S71S	TCEB1_ENST00000284811.8_Silent_p.S71S|TCEB1_ENST00000523815.1_Silent_p.S71S|TCEB1_ENST00000519487.1_Silent_p.S71S|TCEB1_ENST00000602840.1_Intron|TCEB1_ENST00000522337.1_Silent_p.S71S|TCEB1_ENST00000520210.1_Silent_p.S55S|TCEB1_ENST00000520242.1_Silent_p.S71S	NM_001204857.1|NM_001204858.1|NM_001204859.1|NM_001204860.1|NM_001204862.1	NP_001191786.1|NP_001191787.1|NP_001191788.1|NP_001191789.1|NP_001191791.1	Q15369	ELOC_HUMAN	transcription elongation factor B (SIII), polypeptide 1 (15kDa, elongin C)	71					interspecies interaction between organisms|positive regulation of viral transcription|regulation of transcription from RNA polymerase II promoter|transcription elongation from RNA polymerase II promoter|ubiquitin-dependent protein catabolic process|viral reproduction	cytosol|nucleoplasm	protein binding			endometrium(2)|kidney(3)|lung(1)|prostate(1)	7	Breast(64;0.0311)		Epithelial(68;0.0136)|all cancers(69;0.0431)|BRCA - Breast invasive adenocarcinoma(89;0.0499)			TGCATACTTTCGATAGCACAT	0.398													3	52					0	0	1	0	0	T	74858991	C	T	74858991	2	4	246	1	0	0	0	0	0	0	0	1	15739	871	31	1		1	TCEB1	8	74858991	Silent	SNP	C	TCGA-HT-7601-01A-11D-2086-08	1009909	74858991	71505031	9	26933											
COL14A1	7373	broad.mit.edu	37	8	121238908	121238908	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7601-01A-11D-2086-08	TCGA-HT-7601-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61c1c39b-845d-4939-8f36-e74df0b879f4	1f027233-400d-4586-91d7-02f137b0a7d9	g.chr8:121238908C>T	ENST00000297848.3	+	16	2177	c.1907C>T	c.(1906-1908)aCg>aTg	p.T636M	COL14A1_ENST00000309791.4_Missense_Mutation_p.T636M|COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000537875.1_3'UTR|COL14A1_ENST00000247781.3_Missense_Mutation_p.T541M	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	636	Fibronectin type-III 5.		T -> A (in dbSNP:rs56815167).		cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			GATGAGGTGACGACAGACAGT	0.483													25	51					0	0	1	0	0	T	121238908	C	T	121238908	3	4	246	1	0	0	0	0	1	0	0	0	3694	536	19	1	1965	1	COL14A1	8	121238908	Missense_Mutation	SNP	C	TCGA-HT-7601-01A-11D-2086-08	46379917	121238908	25125114	10	26934											
KIAA0196	9897	broad.mit.edu	37	8	126075804	126075804	+	Silent	SNP	G	G	C			TCGA-HT-7601-01A-11D-2086-08	TCGA-HT-7601-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61c1c39b-845d-4939-8f36-e74df0b879f4	1f027233-400d-4586-91d7-02f137b0a7d9	g.chr8:126075804G>C	ENST00000318410.7	-	11	1717	c.1368C>G	c.(1366-1368)gtC>gtG	p.V456V	KIAA0196_ENST00000517845.1_Silent_p.V308V	NM_014846.3	NP_055661.3	Q12768	STRUM_HUMAN	KIAA0196	456					cell death	WASH complex				NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	42	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			CTCCTGAAAAGACATCAGCAA	0.423													58	126					0	0	1	0	0	C	126075804	G	C	126075804	2	2	246	1	0	0	0	0	0	0	0	1	8203	929	33	4		4	KIAA0196	8	126075804	Silent	SNP	G	TCGA-HT-7601-01A-11D-2086-08	4836896	126075804	20288218	11	26935											
IFNA21	3452	broad.mit.edu	37	9	21166611	21166611	+	Translation_Start_Site	SNP	T	T	C			TCGA-HT-7601-01A-11D-2086-08	TCGA-HT-7601-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61c1c39b-845d-4939-8f36-e74df0b879f4	1f027233-400d-4586-91d7-02f137b0a7d9	g.chr9:21166611T>C	ENST00000380225.1	-	1	48	c.1A>G	c.(1-3)Atg>Gtg	p.M1V		NM_002175.2	NP_002166.2	P01568	IFN21_HUMAN	interferon, alpha 21	1					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(3)	14				GBM - Glioblastoma multiforme(5;1.93e-187)|Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		GACAGGGCCATTGGGATGTTG	0.488													25	58					0	0	1	0	0	C	21166611	T	C	21166611	1	2	246	1	0	0	0	0	0	0	0	0	7582	1493	52	3		3	IFNA21	9	21166611	Translation_Start_Site	SNP	T	TCGA-HT-7601-01A-11D-2086-08		21166611	120046820	12	26936											
ABTB2	25841	broad.mit.edu	37	11	34182569	34182569	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7601-01A-11D-2086-08	TCGA-HT-7601-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61c1c39b-845d-4939-8f36-e74df0b879f4	1f027233-400d-4586-91d7-02f137b0a7d9	g.chr11:34182569G>A	ENST00000435224.2	-	11	2702	c.2278C>T	c.(2278-2280)Cgg>Tgg	p.R760W	ABTB2_ENST00000298992.2_Missense_Mutation_p.R574W	NM_145804.2	NP_665803.2	A8K6S9	A8K6S9_HUMAN	ankyrin repeat and BTB (POZ) domain containing 2	574							DNA binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(20;0.0691)				ACCGAGTACCGCGACTGCGAG	0.617													3	21					0	0	1	0	0	A	34182569	G	A	34182569	3	1	246	1	0	0	0	0	1	0	0	0	103	1086	38	1	827	1	ABTB2	11	34182569	Missense_Mutation	SNP	G	TCGA-HT-7601-01A-11D-2086-08		34182569	100823947	13	26937											
CPSF7	79869	broad.mit.edu	37	11	61183777	61183777	+	Silent	SNP	A	A	G			TCGA-HT-7601-01A-11D-2086-08	TCGA-HT-7601-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61c1c39b-845d-4939-8f36-e74df0b879f4	1f027233-400d-4586-91d7-02f137b0a7d9	g.chr11:61183777A>G	ENST00000340437.4	-	6	974	c.894T>C	c.(892-894)ccT>ccC	p.P298P	CPSF7_ENST00000394888.4_Silent_p.P255P|CPSF7_ENST00000439958.3_Silent_p.P246P|CPSF7_ENST00000448745.1_Silent_p.P246P	NM_024811.3	NP_079087.3	Q8N684	CPSF7_HUMAN	cleavage and polyadenylation specific factor 7, 59kDa	255	Pro-rich.				mRNA 3'-end processing|nuclear mRNA splicing, via spliceosome|protein tetramerization|termination of RNA polymerase II transcription	mRNA cleavage factor complex	nucleotide binding|protein binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	22						GAGGAGGAGGAGGGACCCCAA	0.617													3	68					0	0	1	0	0	G	61183777	A	G	61183777	2	3	246	1	0	0	0	0	0	0	0	1	3853	291	11	3		3	CPSF7	11	61183777	Silent	SNP	A	TCGA-HT-7601-01A-11D-2086-08	27001208	61183777	73822739	14	26938											
PITPNM1	9600	broad.mit.edu	37	11	67269773	67269773	+	Silent	SNP	C	C	T			TCGA-HT-7601-01A-11D-2086-08	TCGA-HT-7601-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61c1c39b-845d-4939-8f36-e74df0b879f4	1f027233-400d-4586-91d7-02f137b0a7d9	g.chr11:67269773C>T	ENST00000356404.3	-	4	630	c.405G>A	c.(403-405)caG>caA	p.Q135Q	PITPNM1_ENST00000534749.1_Silent_p.Q135Q|PITPNM1_ENST00000436757.2_Silent_p.Q135Q	NM_001130848.1|NM_004910.2	NP_001124320.1|NP_004901.2	O00562	PITM1_HUMAN	phosphatidylinositol transfer protein, membrane-associated 1	135					brain development|lipid metabolic process|phototransduction|protein transport	cleavage furrow|endoplasmic reticulum membrane|Golgi cisterna membrane|lipid particle|membrane fraction|midbody	metal ion binding|phosphatidylinositol transporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3)	18						CCAGGATGCGCTGTCTCCTCT	0.612													23	53					0	0	1	0	0	T	67269773	C	T	67269773	2	4	246	1	0	0	0	0	0	0	0	1	11998	796	28	2		2	PITPNM1	11	67269773	Silent	SNP	C	TCGA-HT-7601-01A-11D-2086-08	6085996	67269773	67736743	15	26939											
HEPHL1	341208	broad.mit.edu	37	11	93822035	93822035	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7601-01A-11D-2086-08	TCGA-HT-7601-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61c1c39b-845d-4939-8f36-e74df0b879f4	1f027233-400d-4586-91d7-02f137b0a7d9	g.chr11:93822035T>C	ENST00000315765.9	+	12	2203	c.2195T>C	c.(2194-2196)aTa>aCa	p.I732T		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	732	Plastocyanin-like 5.				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				TACGGGATGATAAGAACTTTT	0.517													23	65					0	0	1	0	0	C	93822035	T	C	93822035	3	2	246	1	0	0	0	0	1	0	0	0	7096	1406	49	3	2241	3	HEPHL1	11	93822035	Missense_Mutation	SNP	T	TCGA-HT-7601-01A-11D-2086-08	26552262	93822035	41184481	16	26940											
ACVRL1	94	broad.mit.edu	37	12	52309001	52309008	+	Splice_Site	DEL	GCACACAG	GCACACAG	-			TCGA-HT-7601-01A-11D-2086-08	TCGA-HT-7601-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61c1c39b-845d-4939-8f36-e74df0b879f4	1f027233-400d-4586-91d7-02f137b0a7d9	g.chr12:52309001_52309008delGCACACAG	ENST00000550683.1	+	6	915		c.e6-1		ACVRL1_ENST00000388922.4_Splice_Site|ACVRL1_ENST00000419526.2_Splice_Site	NM_001077401.1	NP_001070869.1	P37023	ACVL1_HUMAN	activin A receptor type II-like 1						blood vessel endothelial cell proliferation involved in sprouting angiogenesis|blood vessel maturation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of endothelial cell migration|negative regulation of focal adhesion assembly|positive regulation of BMP signaling pathway|positive regulation of transcription, DNA-dependent|regulation of blood pressure|regulation of blood vessel endothelial cell migration|regulation of DNA replication|regulation of endothelial cell proliferation|transforming growth factor beta receptor signaling pathway|wound healing, spreading of epidermal cells	cell surface|integral to plasma membrane	activin binding|activin receptor activity, type I|ATP binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	20				BRCA - Breast invasive adenocarcinoma(357;0.0991)	Adenosine triphosphate(DB00171)	CAACCTTTCTGCACACAGGCTTCATCGC	0.615													8	38	---	---	---	---						-	52309008	GCACACAG	-	52309001	8	5	246	1	0	1	0	1	0	0	1	0	224	1334	46	0		0	ACVRL1	12	52309001	Splice_Site	DEL	GCACACAG	TCGA-HT-7601-01A-11D-2086-08		52309001	81542894	17	26941											
GJB2	2706	broad.mit.edu	37	13	20763148	20763148	+	Silent	SNP	G	G	A			TCGA-HT-7601-01A-11D-2086-08	TCGA-HT-7601-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61c1c39b-845d-4939-8f36-e74df0b879f4	1f027233-400d-4586-91d7-02f137b0a7d9	g.chr13:20763148G>A	ENST00000382844.1	-	1	771	c.573C>T	c.(571-573)ttC>ttT	p.F191F	GJB2_ENST00000382848.4_Silent_p.F191F			P29033	CXB2_HUMAN	gap junction protein, beta 2, 26kDa	191			F -> L.		cell-cell signaling|cellular membrane organization|gap junction assembly|sensory perception of sound|transport	connexon complex|ER-Golgi intermediate compartment|integral to membrane				breast(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(1)	7		all_cancers(29;3.95e-22)|all_epithelial(30;2.36e-19)|all_lung(29;2.27e-18)|Lung SC(185;0.0257)|Ovarian(182;0.0822)		all cancers(112;0.000435)|Epithelial(112;0.000722)|OV - Ovarian serous cystadenocarcinoma(117;0.0096)|Lung(94;0.0236)|LUSC - Lung squamous cell carcinoma(192;0.0738)		TGAACACTGTGAAGACAGTCT	0.488									Keratitis, Ichthyosis and Deafness syndrome				4	66					0	0	1	0	0	A	20763148	G	A	20763148	2	1	246	1	0	0	0	0	0	0	0	1	6450	1281	45	2		2	GJB2	13	20763148	Silent	SNP	G	TCGA-HT-7601-01A-11D-2086-08		20763148	94406730	18	26942											
GJB2	2706	broad.mit.edu	37	13	20763400	20763400	+	Missense_Mutation	SNP	G	G	C	rs111033253		TCGA-HT-7601-01A-11D-2086-08	TCGA-HT-7601-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61c1c39b-845d-4939-8f36-e74df0b879f4	1f027233-400d-4586-91d7-02f137b0a7d9	g.chr13:20763400G>C	ENST00000382844.1	-	1	519	c.321C>G	c.(319-321)atC>atG	p.I107M	GJB2_ENST00000382848.4_Missense_Mutation_p.I107M			P29033	CXB2_HUMAN	gap junction protein, beta 2, 26kDa	107					cell-cell signaling|cellular membrane organization|gap junction assembly|sensory perception of sound|transport	connexon complex|ER-Golgi intermediate compartment|integral to membrane				breast(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(1)	7		all_cancers(29;3.95e-22)|all_epithelial(30;2.36e-19)|all_lung(29;2.27e-18)|Lung SC(185;0.0257)|Ovarian(182;0.0822)		all cancers(112;0.000435)|Epithelial(112;0.000722)|OV - Ovarian serous cystadenocarcinoma(117;0.0096)|Lung(94;0.0236)|LUSC - Lung squamous cell carcinoma(192;0.0738)		TCTCCCCCTTGATGAACTTCC	0.547									Keratitis, Ichthyosis and Deafness syndrome		OREG0022282	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	74					0	0	1	0	0	C	20763400	G	C	20763400	3	2	246	1	0	0	0	0	1	0	0	0	6450	1280	45	5	363	5	GJB2	13	20763400	Missense_Mutation	SNP	G	TCGA-HT-7601-01A-11D-2086-08	252	20763400	94406478	19	26943											
IPO5	3843	broad.mit.edu	37	13	98658457	98658457	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7601-01A-11D-2086-08	TCGA-HT-7601-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61c1c39b-845d-4939-8f36-e74df0b879f4	1f027233-400d-4586-91d7-02f137b0a7d9	g.chr13:98658457A>G	ENST00000261574.5	+	17	1805	c.1625A>G	c.(1624-1626)gAa>gGa	p.E542G	IPO5_ENST00000493492.2_3'UTR|IPO5_ENST00000490680.1_Missense_Mutation_p.E524G|IPO5_ENST00000539640.1_Missense_Mutation_p.E399G	NM_002271.4	NP_002262.3	O00410	IPO5_HUMAN	importin 5	524					interspecies interaction between organisms|NLS-bearing substrate import into nucleus|ribosomal protein import into nucleus	cytoplasm|nuclear pore|nucleolus	GTPase inhibitor activity|protein transporter activity|Ran GTPase binding			breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	27						GATACTGCAGAAGAAAAATTT	0.388													15	150					0	0	1	0	0	G	98658457	A	G	98658457	3	3	246	1	0	0	0	0	1	0	0	0	7840	246	9	3	1683	3	IPO5	13	98658457	Missense_Mutation	SNP	A	TCGA-HT-7601-01A-11D-2086-08	77895057	98658457	16511421	20	26944											
TCF12	6938	broad.mit.edu	37	15	57555366	57555369	+	Frame_Shift_Del	DEL	AAAG	AAAG	-			TCGA-HT-7601-01A-11D-2086-08	TCGA-HT-7601-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61c1c39b-845d-4939-8f36-e74df0b879f4	1f027233-400d-4586-91d7-02f137b0a7d9	g.chr15:57555366_57555369delAAAG	ENST00000267811.5	+	17	1871_1874	c.1567_1570delAAAG	c.(1567-1572)aaagaafs	p.KE523fs	TCF12_ENST00000438423.2_Frame_Shift_Del_p.KE547fs|TCF12_ENST00000557843.1_Frame_Shift_Del_p.KE523fs|TCF12_ENST00000537840.1_Frame_Shift_Del_p.KE287fs|TCF12_ENST00000452095.2_Frame_Shift_Del_p.KE543fs|TCF12_ENST00000543579.1_Frame_Shift_Del_p.KE377fs|TCF12_ENST00000333725.5_Frame_Shift_Del_p.KE547fs|TCF12_ENST00000559710.1_Frame_Shift_Del_p.KE157fs|TCF12_ENST00000343827.3_Frame_Shift_Del_p.KE353fs|TCF12_ENST00000559703.1_Frame_Shift_Del_p.KE181fs	NM_003205.3|NM_207038.1	NP_003196.1|NP_996921.1	Q99081	HTF4_HUMAN	transcription factor 12	523				K -> E (in Ref. 3; CAD89914).	immune response|muscle organ development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity		TCF12/NR4A3(2)	breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	36		Colorectal(260;0.0907)		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)		GACTGAAAACAAAGAAAAGGATGA	0.382			T	TEC	extraskeletal myxoid chondrosarcoma								17	25	---	---	---	---						-	57555369	AAAG	-	57555366	7	5	246	1	0	1	0	1	0	0	0	0	15747	131	5	0	1778	0	TCF12	15	57555366	Frame_Shift_Del	DEL	AAAG	TCGA-HT-7601-01A-11D-2086-08		57555366	44976026	21	26945											
MCTP2	55784	broad.mit.edu	37	15	94841633	94841633	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7601-01A-11D-2086-08	TCGA-HT-7601-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61c1c39b-845d-4939-8f36-e74df0b879f4	1f027233-400d-4586-91d7-02f137b0a7d9	g.chr15:94841633C>T	ENST00000357742.4	+	1	139	c.139C>T	c.(139-141)Cgt>Tgt	p.R47C	MCTP2_ENST00000331706.4_5'UTR|MCTP2_ENST00000451018.3_Missense_Mutation_p.R47C|MCTP2_ENST00000543482.1_Missense_Mutation_p.R47C	NM_018349.3	NP_060819.3	Q6DN12	MCTP2_HUMAN	multiple C2 domains, transmembrane 2	47					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			CTTGGACCGCCGTCTCAGCCT	0.592													6	54					0	0	1	0	0	T	94841633	C	T	94841633	3	4	246	1	0	0	0	0	1	0	0	0	9451	652	23	1	141	1	MCTP2	15	94841633	Missense_Mutation	SNP	C	TCGA-HT-7601-01A-11D-2086-08	37286267	94841633	7689759	22	26946											
CPNE2	221184	broad.mit.edu	37	16	57147304	57147304	+	Silent	SNP	C	C	G			TCGA-HT-7601-01A-11D-2086-08	TCGA-HT-7601-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61c1c39b-845d-4939-8f36-e74df0b879f4	1f027233-400d-4586-91d7-02f137b0a7d9	g.chr16:57147304C>G	ENST00000535318.2	+	4	646	c.285C>G	c.(283-285)ctC>ctG	p.L95L	CPNE2_ENST00000565874.1_Silent_p.L95L|CPNE2_ENST00000290776.8_Silent_p.L95L|CPNE2_ENST00000537605.1_5'UTR			Q96FN4	CPNE2_HUMAN	copine II	95	C2 1.									central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(5)	21		all_neural(199;0.224)				AGTTCGCGCTCTTTGACCAGG	0.582													9	53					0	0	1	0	0	G	57147304	C	G	57147304	2	3	246	1	0	0	0	0	0	0	0	1	3835	900	32	4		4	CPNE2	16	57147304	Silent	SNP	C	TCGA-HT-7601-01A-11D-2086-08		57147304	33207449	23	26947											
TP53	7157	broad.mit.edu	37	17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	rs121913343		TCGA-HT-7601-01A-11D-2086-08	TCGA-HT-7601-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61c1c39b-845d-4939-8f36-e74df0b879f4	1f027233-400d-4586-91d7-02f137b0a7d9	g.chr17:7577121G>A	ENST00000420246.2	-	8	949	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000269305.4_Missense_Mutation_p.R273C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	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).		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.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			21	12					0	0	1	0	0	A	7577121	G	A	7577121	3	1	246	1	0	0	0	0	1	0	0	0	16442	1087	38	1	469	1	TP53	17	7577121	Missense_Mutation	SNP	G	TCGA-HT-7601-01A-11D-2086-08		7577121	73618089	24	26948											
SLC6A4	6532	broad.mit.edu	37	17	28545875	28545875	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7601-01A-11D-2086-08	TCGA-HT-7601-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61c1c39b-845d-4939-8f36-e74df0b879f4	1f027233-400d-4586-91d7-02f137b0a7d9	g.chr17:28545875C>T	ENST00000401766.2	-	3	930	c.418G>A	c.(418-420)Gga>Aga	p.G140R	SLC6A4_ENST00000261707.3_Missense_Mutation_p.G140R			P31645	SC6A4_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 4	140					response to toxin|serotonin uptake|thalamus development	cytosol|endomembrane system|endosome membrane|membrane raft	actin filament binding|Rab GTPase binding|serotonin transmembrane transporter activity|serotonin:sodium symporter activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(4)	25					Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Doxepin(DB01142)|Duloxetine(DB00476)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Minaprine(DB00805)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phentermine(DB00191)|Protriptyline(DB00344)|Sertraline(DB01104)|Sibutramine(DB01105)|Tegaserod(DB01079)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Zimelidine(DB04832)	TGGTACTGTCCCAGTGCGAGC	0.507													64	140					0	0	1	0	0	T	28545875	C	T	28545875	3	4	246	1	0	0	0	0	1	0	0	0	14741	632	22	2	1522	2	SLC6A4	17	28545875	Missense_Mutation	SNP	C	TCGA-HT-7601-01A-11D-2086-08	20968754	28545875	52649335	25	26949											
SMARCE1	6605	broad.mit.edu	37	17	38792704	38792704	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HT-7601-01A-11D-2086-08	TCGA-HT-7601-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61c1c39b-845d-4939-8f36-e74df0b879f4	1f027233-400d-4586-91d7-02f137b0a7d9	g.chr17:38792704C>T	ENST00000348513.6	-	6	1092	c.312G>A	c.(310-312)tgG>tgA	p.W104*	SMARCE1_ENST00000578044.1_Nonsense_Mutation_p.W34*|SMARCE1_ENST00000431889.2_Nonsense_Mutation_p.W86*|SMARCE1_ENST00000400122.3_Nonsense_Mutation_p.W34*|KRT222_ENST00000476049.1_3'UTR|SMARCE1_ENST00000377808.4_Nonsense_Mutation_p.W69*|SMARCE1_ENST00000580419.1_Nonsense_Mutation_p.W69*|SMARCE1_ENST00000544009.1_Nonsense_Mutation_p.W34*	NM_003079.4	NP_003070.3	Q969G3	SMCE1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1	104					chromatin modification|negative regulation of transcription, DNA-dependent|nervous system development|nucleosome disassembly|regulation of transcription from RNA polymerase II promoter	nBAF complex|npBAF complex|nuclear chromosome|SWI/SNF complex|transcriptional repressor complex	chromatin binding|DNA binding|N-acetyltransferase activity|protein binding|protein N-terminus binding|transcription coactivator activity			large_intestine(1)	1		Breast(137;0.000812)				TGAGATCTCGCCACATGCCAC	0.408													8	149					0	0	1	0	0	T	38792704	C	T	38792704	4	4	246	1	0	0	0	0	0	1	0	0	14834	740	26	2	947	2	SMARCE1	17	38792704	Nonsense_Mutation	SNP	C	TCGA-HT-7601-01A-11D-2086-08	10246829	38792704	42402506	26	26950											
PRKAR1A	5573	broad.mit.edu	37	17	66525030	66525030	+	Missense_Mutation	SNP	A	A	T			TCGA-HT-7601-01A-11D-2086-08	TCGA-HT-7601-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61c1c39b-845d-4939-8f36-e74df0b879f4	1f027233-400d-4586-91d7-02f137b0a7d9	g.chr17:66525030A>T	ENST00000589228.1	+	9	917	c.789A>T	c.(787-789)gaA>gaT	p.E263D	PRKAR1A_ENST00000588188.2_Missense_Mutation_p.E263D|PRKAR1A_ENST00000392711.1_Missense_Mutation_p.E263D|PRKAR1A_ENST00000586397.1_Missense_Mutation_p.E263D|PRKAR1A_ENST00000358598.2_Missense_Mutation_p.E263D|PRKAR1A_ENST00000536854.2_Missense_Mutation_p.E263D	NM_001276289.1|NM_001278433.1	NP_001263218.1|NP_001265362.1	P10644	KAP0_HUMAN	protein kinase, cAMP-dependent, regulatory, type I, alpha	263					activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|intracellular signal transduction|nerve growth factor receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter|transmembrane transport|water transport	cAMP-dependent protein kinase complex|cytosol	cAMP binding|cAMP-dependent protein kinase regulator activity|protein binding			adrenal_gland(4)|breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(8)|soft_tissue(2)|stomach(2)|testis(1)|thyroid(2)|upper_aerodigestive_tract(1)	31	Breast(10;1.64e-13)					ACAAGTGGGAACGTCTTACGG	0.398			"T, Mis, N, F, S"	RET	papillary thyroid	"myxoma, endocrine, papillary thyroid"			Primary Pigmented Nodular Adrenocortical Disease, Familial;Carney Complex;Cardiac Myxomas, Familial Clustering of				13	115					0	0	1	0	0	T	66525030	A	T	66525030	3	4	246	1	0	0	0	0	1	0	0	0	12555	40	2	5	819	5	PRKAR1A	17	66525030	Missense_Mutation	SNP	A	TCGA-HT-7601-01A-11D-2086-08	27732326	66525030	14670180	27	26951											
SDK2	54549	broad.mit.edu	37	17	71418471	71418471	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7601-01A-11D-2086-08	TCGA-HT-7601-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61c1c39b-845d-4939-8f36-e74df0b879f4	1f027233-400d-4586-91d7-02f137b0a7d9	g.chr17:71418471G>A	ENST00000392650.3	-	15	2000	c.2000C>T	c.(1999-2001)gCc>gTc	p.A667V	SDK2_ENST00000388726.3_Missense_Mutation_p.A667V	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	667	Fibronectin type-III 1.				cell adhesion	integral to membrane				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						GTCGTTGACGGCACAAAGACG	0.617													4	82					0	0	1	0	0	A	71418471	G	A	71418471	3	1	246	1	0	0	0	0	1	0	0	0	14023	1203	42	2	4642	2	SDK2	17	71418471	Missense_Mutation	SNP	G	TCGA-HT-7601-01A-11D-2086-08	4893441	71418471	9776739	28	26952											
LLGL2	3993	broad.mit.edu	37	17	73567818	73567818	+	Silent	SNP	G	G	A			TCGA-HT-7601-01A-11D-2086-08	TCGA-HT-7601-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61c1c39b-845d-4939-8f36-e74df0b879f4	1f027233-400d-4586-91d7-02f137b0a7d9	g.chr17:73567818G>A	ENST00000392550.3	+	18	2364	c.2247G>A	c.(2245-2247)gtG>gtA	p.V749V	LLGL2_ENST00000577200.1_Silent_p.V749V|LLGL2_ENST00000167462.5_Silent_p.V749V	NM_001031803.1	NP_001026973.1	Q6P1M3	L2GL2_HUMAN	lethal giant larvae homolog 2 (Drosophila)	749					cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity	cytoplasm|intracellular membrane-bounded organelle	PDZ domain binding			NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)			CCCTGCGTGTGCCTCCCGCCG	0.672													7	72					0	0	1	0	0	A	73567818	G	A	73567818	2	1	246	1	0	0	0	0	0	0	0	1	8875	1306	46	2		2	LLGL2	17	73567818	Silent	SNP	G	TCGA-HT-7601-01A-11D-2086-08	2149347	73567818	7627392	29	26953											
LAMA1	284217	broad.mit.edu	37	18	6986294	6986294	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7601-01A-11D-2086-08	TCGA-HT-7601-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61c1c39b-845d-4939-8f36-e74df0b879f4	1f027233-400d-4586-91d7-02f137b0a7d9	g.chr18:6986294C>T	ENST00000389658.3	-	37	5314	c.5221G>A	c.(5221-5223)Gaa>Aaa	p.E1741K		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	1741	Domain II and I.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TCCAATTCTTCCAGCGGCTTC	0.428													4	94					0	0	1	0	0	T	6986294	C	T	6986294	3	4	246	1	0	0	0	0	1	0	0	0	8644	864	30	2	4114	2	LAMA1	18	6986294	Missense_Mutation	SNP	C	TCGA-HT-7601-01A-11D-2086-08		6986294	71090954	30	26954											
LIPE	3991	broad.mit.edu	37	19	42930578	42930578	+	Missense_Mutation	SNP	A	A	T			TCGA-HT-7601-01A-11D-2086-08	TCGA-HT-7601-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61c1c39b-845d-4939-8f36-e74df0b879f4	1f027233-400d-4586-91d7-02f137b0a7d9	g.chr19:42930578A>T	ENST00000244289.4	-	1	1000	c.724T>A	c.(724-726)Tca>Aca	p.S242T	LIPE-AS1_ENST00000594624.2_RNA|LIPE-AS1_ENST00000593740.2_RNA|LIPE-AS1_ENST00000594688.1_RNA|LIPE-AS1_ENST00000597203.1_RNA|LIPE-AS1_ENST00000457234.2_RNA	NM_005357.2	NP_005348.2	Q05469	LIPS_HUMAN	lipase, hormone-sensitive	242					cholesterol metabolic process|protein phosphorylation|triglyceride catabolic process	caveola|cytosol	hormone-sensitive lipase activity|protein binding			breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		Prostate(69;0.00682)				TCTGTGTCTGAAGATGATCCC	0.473													41	59					0	0	1	0	0	T	42930578	A	T	42930578	3	4	246	1	0	0	0	0	1	0	0	0	8862	246	9	5	2546	5	LIPE	19	42930578	Missense_Mutation	SNP	A	TCGA-HT-7601-01A-11D-2086-08		42930578	16198405	31	26955	128	2									
LIPE	3991	broad.mit.edu	37	19	42930579	42930579	+	Silent	SNP	A	A	T			TCGA-HT-7601-01A-11D-2086-08	TCGA-HT-7601-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61c1c39b-845d-4939-8f36-e74df0b879f4	1f027233-400d-4586-91d7-02f137b0a7d9	g.chr19:42930579A>T	ENST00000244289.4	-	1	999	c.723T>A	c.(721-723)tcT>tcA	p.S241S	LIPE-AS1_ENST00000594624.2_RNA|LIPE-AS1_ENST00000593740.2_RNA|LIPE-AS1_ENST00000594688.1_RNA|LIPE-AS1_ENST00000597203.1_RNA|LIPE-AS1_ENST00000457234.2_RNA	NM_005357.2	NP_005348.2	Q05469	LIPS_HUMAN	lipase, hormone-sensitive	241					cholesterol metabolic process|protein phosphorylation|triglyceride catabolic process	caveola|cytosol	hormone-sensitive lipase activity|protein binding			breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		Prostate(69;0.00682)				CTGTGTCTGAAGATGATCCCA	0.473													40	58					0	0	1	0	0	T	42930579	A	T	42930579	2	4	246	1	0	0	0	0	0	0	0	1	8862	59	3	5		5	LIPE	19	42930579	Silent	SNP	A	TCGA-HT-7601-01A-11D-2086-08	1	42930579	16198404	32	26956	128	2									
AKAP4	8852	broad.mit.edu	37	X	49957504	49957504	+	Missense_Mutation	SNP	G	G	C			TCGA-HT-7601-01A-11D-2086-08	TCGA-HT-7601-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61c1c39b-845d-4939-8f36-e74df0b879f4	1f027233-400d-4586-91d7-02f137b0a7d9	g.chrX:49957504G>C	ENST00000376056.2	-	5	1983	c.1833C>G	c.(1831-1833)gaC>gaG	p.D611E	AKAP4_ENST00000376064.3_Missense_Mutation_p.D611E|AKAP4_ENST00000481402.1_5'UTR|AKAP4_ENST00000376058.2_Missense_Mutation_p.D237E|AKAP4_ENST00000358526.2_Missense_Mutation_p.D620E			Q5JQC9	AKAP4_HUMAN	A kinase (PRKA) anchor protein 4	620					cell projection organization|single fertilization|sperm motility	cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum	protein kinase A binding			NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41	Ovarian(276;0.236)					TTTTCTGGGAGTCCAGGTGTT	0.463													9	208					0	0	1	0	0	C	49957504	G	C	49957504	3	2	246	1	0	0	0	0	1	0	0	0	450	1020	36	4	712	4	AKAP4	23	49957504	Missense_Mutation	SNP	G	TCGA-HT-7601-01A-11D-2086-08		49957504	105313056	33	26957											
KLHL13	90293	broad.mit.edu	37	X	117032912	117032912	+	Missense_Mutation	SNP	T	T	G			TCGA-HT-7601-01A-11D-2086-08	TCGA-HT-7601-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61c1c39b-845d-4939-8f36-e74df0b879f4	1f027233-400d-4586-91d7-02f137b0a7d9	g.chrX:117032912T>G	ENST00000371876.1	-	6	4195	c.1774A>C	c.(1774-1776)Aca>Cca	p.T592P	KLHL13_ENST00000540167.1_Missense_Mutation_p.T627P|KLHL13_ENST00000469946.1_Missense_Mutation_p.T592P|KLHL13_ENST00000539496.1_Missense_Mutation_p.T646P|KLHL13_ENST00000541812.1_Missense_Mutation_p.T627P|KLHL13_ENST00000262820.3_Missense_Mutation_p.T643P|KLHL13_ENST00000371878.1_Missense_Mutation_p.T592P|KLHL13_ENST00000371882.1_Missense_Mutation_p.T592P|KLHL13_ENST00000545703.1_Missense_Mutation_p.T601P			Q9P2N7	KLH13_HUMAN	kelch-like family member 13	643					cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						GGTGATGGTGTGGTTTCTTCT	0.418													12	135					0	0	1	0	0	G	117032912	T	G	117032912	3	3	246	1	0	0	0	0	1	0	0	0	8412	1696	59	5	44	5	KLHL13	23	117032912	Missense_Mutation	SNP	T	TCGA-HT-7601-01A-11D-2086-08	67075408	117032912	38237648	34	26958											
PTPRF	5792	broad.mit.edu	37	1	44069662	44069662	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7602-01A-21D-2086-08	TCGA-HT-7602-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88395c0e-4afe-434d-8b20-5a3eef8b7f00	5844876a-d390-4c02-acb9-f32647ca7375	g.chr1:44069662C>T	ENST00000359947.4	+	16	3179	c.2839C>T	c.(2839-2841)Cgc>Tgc	p.R947C	PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000372414.3_Missense_Mutation_p.R947C|PTPRF_ENST00000438120.1_Missense_Mutation_p.R938C|PTPRF_ENST00000422171.2_Missense_Mutation_p.R295C|PTPRF_ENST00000372413.3_Missense_Mutation_p.R938C	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	947	Fibronectin type-III 7.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GAGGAACGGGCGCATCATCAG	0.602													4	50					0	0	1	0	0	T	44069662	C	T	44069662	3	4	247	1	0	0	0	0	1	0	0	0	12853	768	27	1	2893	1	PTPRF	1	44069662	Missense_Mutation	SNP	C	TCGA-HT-7602-01A-21D-2086-08		44069662	205180959	1	26959											
ZBTB7B	51043	broad.mit.edu	37	1	154988753	154988753	+	Silent	SNP	C	C	T			TCGA-HT-7602-01A-21D-2086-08	TCGA-HT-7602-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88395c0e-4afe-434d-8b20-5a3eef8b7f00	5844876a-d390-4c02-acb9-f32647ca7375	g.chr1:154988753C>T	ENST00000368426.3	+	4	1349	c.1212C>T	c.(1210-1212)tgC>tgT	p.C404C	ZBTB7B_ENST00000417934.2_Silent_p.C438C|ZBTB7B_ENST00000535420.1_Silent_p.C404C|ZBTB7B_ENST00000292176.2_Silent_p.C404C	NM_001256455.1	NP_001243384.1	O15156	ZBT7B_HUMAN	zinc finger and BTB domain containing 7B	404					cell differentiation|ectoderm development|multicellular organismal development|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)	29	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			CCTACTCATGCCCGCACTGCC	0.632													4	121					0	0	1	0	0	T	154988753	C	T	154988753	2	4	247	1	0	0	0	0	0	0	0	1	17613	747	26	2		2	ZBTB7B	1	154988753	Silent	SNP	C	TCGA-HT-7602-01A-21D-2086-08	110919091	154988753	94261868	2	26960											
CEP350	9857	broad.mit.edu	37	1	179991958	179991959	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HT-7602-01A-21D-2086-08	TCGA-HT-7602-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88395c0e-4afe-434d-8b20-5a3eef8b7f00	5844876a-d390-4c02-acb9-f32647ca7375	g.chr1:179991958_179991959insA	ENST00000367607.3	+	13	3779_3780	c.3361_3362insA	c.(3361-3363)gaafs	p.E1121fs		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	1121	Ser-rich.					centrosome|nucleus|spindle				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						GACTTCGACAGAAAAAAAATCA	0.391													3	5	---	---	---	---						A	179991959	-	A	179991958	7	5	247	1	0	1	1	0	0	0	0	0	3276	943	33	0	3407	0	CEP350	1	179991958	Frame_Shift_Ins	INS	-	TCGA-HT-7602-01A-21D-2086-08	25003205	179991958	69258663	3	26961											
FAM179A	165186	broad.mit.edu	37	2	29240088	29240088	+	Silent	SNP	G	G	A			TCGA-HT-7602-01A-21D-2086-08	TCGA-HT-7602-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88395c0e-4afe-434d-8b20-5a3eef8b7f00	5844876a-d390-4c02-acb9-f32647ca7375	g.chr2:29240088G>A	ENST00000379558.4	+	9	1464	c.1113G>A	c.(1111-1113)ctG>ctA	p.L371L	FAM179A_ENST00000465300.1_Intron|FAM179A_ENST00000403861.2_Silent_p.L371L	NM_199280.2	NP_954974.2	Q6ZUX3	F179A_HUMAN	family with sequence similarity 179, member A	371							binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						AGATGGAGCTGCTTCGGAGGC	0.572													4	97					0	0	1	0	0	A	29240088	G	A	29240088	2	1	247	1	0	0	0	0	0	0	0	1	5535	1306	46	2		2	FAM179A	2	29240088	Silent	SNP	G	TCGA-HT-7602-01A-21D-2086-08		29240088	213959285	4	26962											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-HT-7602-01A-21D-2086-08	TCGA-HT-7602-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88395c0e-4afe-434d-8b20-5a3eef8b7f00	5844876a-d390-4c02-acb9-f32647ca7375	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	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								23	84					0	0	1	0	0	T	209113112	C	T	209113112	3	4	247	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HT-7602-01A-21D-2086-08	179873024	209113112	34086261	5	26963											
ZDHHC19	131540	broad.mit.edu	37	3	195925263	195925263	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7602-01A-21D-2086-08	TCGA-HT-7602-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88395c0e-4afe-434d-8b20-5a3eef8b7f00	5844876a-d390-4c02-acb9-f32647ca7375	g.chr3:195925263G>A	ENST00000296326.3	-	7	912	c.833C>T	c.(832-834)cCg>cTg	p.P278L		NM_001039617.1	NP_001034706.1	Q8WVZ1	ZDH19_HUMAN	zinc finger, DHHC-type containing 19	278						integral to membrane	acyltransferase activity|zinc ion binding			breast(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(7)|ovary(3)	14	all_cancers(143;1.68e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.89e-25)|all cancers(36;1.46e-23)|OV - Ovarian serous cystadenocarcinoma(49;2.1e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0022)		GTGCAGATTCGGCATGGATGT	0.657													7	82					0	0	1	0	0	A	195925263	G	A	195925263	3	1	247	1	0	0	0	0	1	0	0	0	17667	1116	39	1	100	1	ZDHHC19	3	195925263	Missense_Mutation	SNP	G	TCGA-HT-7602-01A-21D-2086-08		195925263	2097167	6	26964											
SH3RF1	57630	broad.mit.edu	37	4	170042112	170042112	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7602-01A-21D-2086-08	TCGA-HT-7602-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88395c0e-4afe-434d-8b20-5a3eef8b7f00	5844876a-d390-4c02-acb9-f32647ca7375	g.chr4:170042112G>A	ENST00000284637.9	-	8	1716	c.1375C>T	c.(1375-1377)Cgg>Tgg	p.R459W	SH3RF1_ENST00000508685.1_5'UTR	NM_020870.3	NP_065921.2	Q7Z6J0	SH3R1_HUMAN	SH3 domain containing ring finger 1	459	Interaction with AKT2 (By similarity).|SH3 3.					Golgi apparatus|lamellipodium|perinuclear region of cytoplasm	ligase activity|zinc ion binding			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31		Prostate(90;0.00267)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)		TCCTCTTTCCGAGGAGTGTAT	0.403													4	76					0	0	1	0	0	A	170042112	G	A	170042112	3	1	247	1	0	0	0	0	1	0	0	0	14313	1057	37	1	1311	1	SH3RF1	4	170042112	Missense_Mutation	SNP	G	TCGA-HT-7602-01A-21D-2086-08		170042112	21112164	7	26965											
ADAMTS12	81792	broad.mit.edu	37	5	33576465	33576465	+	Silent	SNP	G	G	A			TCGA-HT-7602-01A-21D-2086-08	TCGA-HT-7602-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88395c0e-4afe-434d-8b20-5a3eef8b7f00	5844876a-d390-4c02-acb9-f32647ca7375	g.chr5:33576465G>A	ENST00000504830.1	-	19	4001	c.3666C>T	c.(3664-3666)ccC>ccT	p.P1222P	ADAMTS12_ENST00000352040.3_Silent_p.P1137P	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1222	Spacer 2.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						GCCTTTGGCTGGGGAGCAGTC	0.557										HNSCC(64;0.19)			6	112					0	0	1	0	0	A	33576465	G	A	33576465	2	1	247	1	0	0	0	0	0	0	0	1	256	1335	47	2		2	ADAMTS12	5	33576465	Silent	SNP	G	TCGA-HT-7602-01A-21D-2086-08		33576465	147338795	8	26966											
NAT2	10	broad.mit.edu	37	8	18257912	18257912	+	Missense_Mutation	SNP	G	G	C			TCGA-HT-7602-01A-21D-2086-08	TCGA-HT-7602-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88395c0e-4afe-434d-8b20-5a3eef8b7f00	5844876a-d390-4c02-acb9-f32647ca7375	g.chr8:18257912G>C	ENST00000286479.3	+	2	506	c.399G>C	c.(397-399)caG>caC	p.Q133H	NAT2_ENST00000520116.1_Missense_Mutation_p.Q3H	NM_000015.2	NP_000006.2	P11245	ARY2_HUMAN	N-acetyltransferase 2 (arylamine N-acetyltransferase)	133					xenobiotic metabolic process	cytosol	arylamine N-acetyltransferase activity			kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(2)	12				Colorectal(111;0.0531)|COAD - Colon adenocarcinoma(73;0.21)		AGATGTGGCAGCCTCTAGAAT	0.502									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of				16	64					0	0	1	0	0	C	18257912	G	C	18257912	3	2	247	1	0	0	0	0	1	0	0	0	10225	962	34	4	401	4	NAT2	8	18257912	Missense_Mutation	SNP	G	TCGA-HT-7602-01A-21D-2086-08		18257912	128106110	9	26967											
PCSK5	5125	broad.mit.edu	37	9	78790136	78790136	+	Missense_Mutation	SNP	T	T	C	rs62556589		TCGA-HT-7602-01A-21D-2086-08	TCGA-HT-7602-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88395c0e-4afe-434d-8b20-5a3eef8b7f00	5844876a-d390-4c02-acb9-f32647ca7375	g.chr9:78790136T>C	ENST00000376767.3	+	14	2503	c.1991T>C	c.(1990-1992)aTg>aCg	p.M664T	PCSK5_ENST00000376752.4_Intron|PCSK5_ENST00000545128.1_Intron			Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	0	CRM (Cys-rich motif).				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						tggaatggaatgaaatggaat	0.423													3	19					0	0	1	0	0	C	78790136	T	C	78790136	3	2	247	1	0	0	0	0	1	0	0	0	11650	1479	51	3		3	PCSK5	9	78790136	Missense_Mutation	SNP	T	TCGA-HT-7602-01A-21D-2086-08		78790136	62423295	10	26968											
TSPAN14	81619	broad.mit.edu	37	10	82264513	82264513	+	Silent	SNP	G	G	A			TCGA-HT-7602-01A-21D-2086-08	TCGA-HT-7602-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88395c0e-4afe-434d-8b20-5a3eef8b7f00	5844876a-d390-4c02-acb9-f32647ca7375	g.chr10:82264513G>A	ENST00000429989.3	+	3	334	c.111G>A	c.(109-111)ggG>ggA	p.G37G	TSPAN14_ENST00000372156.1_Silent_p.G37G|TSPAN14_ENST00000481124.1_Intron|TSPAN14_ENST00000341863.6_Silent_p.G37G|TSPAN14_ENST00000372164.3_Intron|TSPAN14_ENST00000372158.1_Silent_p.G37G	NM_030927.2	NP_112189.2	Q8NG11	TSN14_HUMAN	tetraspanin 14							integral to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	7			Colorectal(32;0.229)			TTGGAGTCGGGCTGTGGGCAT	0.517													4	111					0	0	1	0	0	A	82264513	G	A	82264513	2	1	247	1	0	0	0	0	0	0	0	1	16699	1190	42	2		2	TSPAN14	10	82264513	Silent	SNP	G	TCGA-HT-7602-01A-21D-2086-08		82264513	53270234	11	26969											
MPEG1	219972	broad.mit.edu	37	11	58978417	58978417	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7602-01A-21D-2086-08	TCGA-HT-7602-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88395c0e-4afe-434d-8b20-5a3eef8b7f00	5844876a-d390-4c02-acb9-f32647ca7375	g.chr11:58978417G>A	ENST00000361050.3	-	1	2007	c.1922C>T	c.(1921-1923)gCc>gTc	p.A641V		NM_001039396.1	NP_001034485.1	Q2M385	MPEG1_HUMAN	macrophage expressed 1	641						integral to membrane				NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(21)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		all_epithelial(135;0.125)				GACATTCATGGCCCTCCGCAG	0.547													12	152					0	0	1	0	0	A	58978417	G	A	58978417	3	1	247	1	0	0	0	0	1	0	0	0	9772	1203	42	2	232	2	MPEG1	11	58978417	Missense_Mutation	SNP	G	TCGA-HT-7602-01A-21D-2086-08		58978417	76028099	12	26970											
NCKAP1L	3071	broad.mit.edu	37	12	54911640	54911640	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7602-01A-21D-2086-08	TCGA-HT-7602-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88395c0e-4afe-434d-8b20-5a3eef8b7f00	5844876a-d390-4c02-acb9-f32647ca7375	g.chr12:54911640G>A	ENST00000293373.6	+	13	1335	c.1256G>A	c.(1255-1257)cGa>cAa	p.R419Q	NCKAP1L_ENST00000545638.2_Missense_Mutation_p.R369Q	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	419					actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						TCTCTGGTCCGAAGACACATC	0.388													27	77					0	0	1	0	0	A	54911640	G	A	54911640	3	1	247	1	0	0	0	0	1	0	0	0	10269	1058	37	1	1306	1	NCKAP1L	12	54911640	Missense_Mutation	SNP	G	TCGA-HT-7602-01A-21D-2086-08		54911640	78940255	13	26971											
ACACB	32	broad.mit.edu	37	12	109654442	109654442	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7602-01A-21D-2086-08	TCGA-HT-7602-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88395c0e-4afe-434d-8b20-5a3eef8b7f00	5844876a-d390-4c02-acb9-f32647ca7375	g.chr12:109654442G>A	ENST00000338432.7	+	23	3489	c.3370G>A	c.(3370-3372)Ggc>Agc	p.G1124S	ACACB_ENST00000377854.5_Intron|ACACB_ENST00000377848.3_Missense_Mutation_p.G1124S			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	1124					acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	p.G1124S(1)		NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	CGGGATCCGCGGCTATATGAA	0.458													10	119					0	0	1	0	0	A	109654442	G	A	109654442	3	1	247	1	0	0	0	0	1	0	0	0	107	1116	39	1	3456	1	ACACB	12	109654442	Missense_Mutation	SNP	G	TCGA-HT-7602-01A-21D-2086-08	54742802	109654442	24197453	14	26972											
ZIC2	7546	broad.mit.edu	37	13	100637726	100637726	+	Silent	SNP	G	G	T			TCGA-HT-7602-01A-21D-2086-08	TCGA-HT-7602-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88395c0e-4afe-434d-8b20-5a3eef8b7f00	5844876a-d390-4c02-acb9-f32647ca7375	g.chr13:100637726G>T	ENST00000376335.3	+	3	1682	c.1389G>T	c.(1387-1389)gcG>gcT	p.A463A	ZIC2_ENST00000477213.1_3'UTR	NM_007129.3	NP_009060.2	O95409	ZIC2_HUMAN	Zic family member 2	463	Poly-Ala.				brain development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|visual perception	cytoplasm|nucleus	chromatin DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(2)|liver(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					cggcggcggcggctgcggcgg	0.816													3	16					0.115264	0.115264	1	1	0	T	100637726	G	T	100637726	2	4	247	1	0	0	0	0	0	0	0	1	17737	1103	39	5		5	ZIC2	13	100637726	Silent	SNP	G	TCGA-HT-7602-01A-21D-2086-08		100637726	14532152	15	26973											
MNT	4335	broad.mit.edu	37	17	2298167	2298168	+	Splice_Site	INS	-	-	C			TCGA-HT-7602-01A-21D-2086-08	TCGA-HT-7602-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88395c0e-4afe-434d-8b20-5a3eef8b7f00	5844876a-d390-4c02-acb9-f32647ca7375	g.chr17:2298167_2298168insC	ENST00000174618.4	-	2	1059		c.e2+1		MNT_ENST00000575394.1_Intron	NM_020310.2	NP_064706.1	Q99583	MNT_HUMAN	MAX network transcriptional repressor						multicellular organismal development|negative regulation of cell proliferation|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity			endometrium(4)|large_intestine(5)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	12				Colorectal(2;1.37e-05)|READ - Rectum adenocarcinoma(2;8.68e-05)		CACCCCACTCACCCCCCGGGCC	0.663													2	4	---	---	---	---						C	2298168	-	C	2298167	8	5	247	1	0	1	1	0	0	0	1	0	9727	173	6	0	1113	0	MNT	17	2298167	Splice_Site	INS	-	TCGA-HT-7602-01A-21D-2086-08		2298167	78897043	16	26974											
TP53	7157	broad.mit.edu	37	17	7577094	7577094	+	Missense_Mutation	SNP	G	G	A	rs28934574		TCGA-HT-7602-01A-21D-2086-08	TCGA-HT-7602-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88395c0e-4afe-434d-8b20-5a3eef8b7f00	5844876a-d390-4c02-acb9-f32647ca7375	g.chr17:7577094G>A	ENST00000420246.2	-	8	976	c.844C>T	c.(844-846)Cgg>Tgg	p.R282W	TP53_ENST00000359597.4_Missense_Mutation_p.R282W|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.R282W|TP53_ENST00000445888.2_Missense_Mutation_p.R282W|TP53_ENST00000269305.4_Missense_Mutation_p.R282W	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	282	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		DR -> EW (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934574).		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.R282W(401)|p.R282G(29)|p.0?(8)|p.R282fs*24(4)|p.R282R(3)|p.?(2)|p.D281fs*63(2)|p.D281_R282>EW(2)|p.A276_R283delACPGRDRR(1)|p.D281_R282insXX(1)|p.C275fs*20(1)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.D281_R282delDR(1)|p.G279fs*59(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.R282fs*63(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(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)		TCTGTGCGCCGGTCTCTCCCA	0.557		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)			7	39					0	0	1	0	0	A	7577094	G	A	7577094	3	1	247	1	0	0	0	0	1	0	0	0	16442	1115	39	1	442	1	TP53	17	7577094	Missense_Mutation	SNP	G	TCGA-HT-7602-01A-21D-2086-08	5278927	7577094	73618116	17	26975			1	24		3	3	1399	N	G_C	4.49083e-07
TP53	7157	broad.mit.edu	37	17	7578212	7578212	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HT-7602-01A-21D-2086-08	TCGA-HT-7602-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88395c0e-4afe-434d-8b20-5a3eef8b7f00	5844876a-d390-4c02-acb9-f32647ca7375	g.chr17:7578212G>A	ENST00000420246.2	-	6	769	c.637C>T	c.(637-639)Cga>Tga	p.R213*	TP53_ENST00000359597.4_Nonsense_Mutation_p.R213*|TP53_ENST00000413465.2_Nonsense_Mutation_p.R213*|TP53_ENST00000455263.2_Nonsense_Mutation_p.R213*|TP53_ENST00000445888.2_Nonsense_Mutation_p.R213*|TP53_ENST00000574684.1_Intron|TP53_ENST00000269305.4_Nonsense_Mutation_p.R213*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	213	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (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.R213*(250)|p.R81*(21)|p.R120*(21)|p.0?(8)|p.?(5)|p.R213G(5)|p.R213fs*35(3)|p.R213fs*34(3)|p.D208_V216delDRNTFRHSV(1)|p.R120G(1)|p.D207_R213delDDRNTFR(1)|p.T211_S215delTFRHS(1)|p.R81fs*>11(1)|p.D208fs*1(1)|p.R120fs*35(1)|p.R81G(1)|p.R209_R213delRNTFR(1)|p.R213fs*2(1)|p.T211fs*28(1)|p.R213_S215>X(1)|p.D207_V216del10(1)|p.R213R(1)|p.R213fs*32(1)|p.R209fs*6(1)|p.R213W(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)		ACACTATGTCGAAAAGTGTTT	0.532		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)			5	64					0	0	1	0	0	A	7578212	G	A	7578212	4	1	247	1	0	0	0	0	0	1	0	0	16442	1066	37	1	657	1	TP53	17	7578212	Nonsense_Mutation	SNP	G	TCGA-HT-7602-01A-21D-2086-08	1118	7578212	73616998	18	26976			1	24		3	3	1399	N	G_C	4.49083e-07
TP53	7157	broad.mit.edu	37	17	7578492	7578492	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HT-7602-01A-21D-2086-08	TCGA-HT-7602-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88395c0e-4afe-434d-8b20-5a3eef8b7f00	5844876a-d390-4c02-acb9-f32647ca7375	g.chr17:7578492C>T	ENST00000420246.2	-	5	570	c.438G>A	c.(436-438)tgG>tgA	p.W146*	TP53_ENST00000359597.4_Nonsense_Mutation_p.W146*|TP53_ENST00000413465.2_Nonsense_Mutation_p.W146*|TP53_ENST00000455263.2_Nonsense_Mutation_p.W146*|TP53_ENST00000445888.2_Nonsense_Mutation_p.W146*|TP53_ENST00000269305.4_Nonsense_Mutation_p.W146*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	146	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		W -> C (in a sporadic cancer; somatic mutation).|W -> G (in sporadic cancers; somatic mutation).|W -> L (in sporadic cancers; somatic mutation).|W -> R (in sporadic cancers; somatic mutation).|W -> 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.W146*(39)|p.0?(8)|p.W53*(3)|p.W14*(3)|p.W146C(2)|p.Q144_G154del11(1)|p.W146_V147insXXXXXXX(1)|p.W146_S149>C(1)|p.Q144fs*32(1)|p.Q144fs*16(1)|p.W146fs*1(1)|p.L137_W146del10(1)|p.W146fs*22(1)|p.W146fs*23(1)|p.V143_S149del(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)		TGGAATCAACCCACAGCTGCA	0.602		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)			5	95					0	0	1	0	0	T	7578492	C	T	7578492	4	4	247	1	0	0	0	0	0	1	0	0	16442	624	22	2	860	2	TP53	17	7578492	Nonsense_Mutation	SNP	C	TCGA-HT-7602-01A-21D-2086-08	280	7578492	73616718	19	26977			1	24		3	3	1399	N	G_C	4.49083e-07
CIC	23152	broad.mit.edu	37	19	42793100	42793100	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7602-01A-21D-2086-08	TCGA-HT-7602-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88395c0e-4afe-434d-8b20-5a3eef8b7f00	5844876a-d390-4c02-acb9-f32647ca7375	g.chr19:42793100C>T	ENST00000572681.2	+	8	3787	c.3719C>T	c.(3718-3720)cCg>cTg	p.P1240L	CIC_ENST00000575354.2_Missense_Mutation_p.P331L|CIC_ENST00000160740.3_Missense_Mutation_p.P331L			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	331	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				ACCAAGGCTCCGGGGAGCAGC	0.617			"Mis, F, S"		oligodendroglioma								4	112					0	0	1	0	0	T	42793100	C	T	42793100	3	4	247	1	0	0	0	0	1	0	0	0	3446	652	23	1	1018	1	CIC	19	42793100	Missense_Mutation	SNP	C	TCGA-HT-7602-01A-21D-2086-08		42793100	16335883	20	26978											
PLA2G3	50487	broad.mit.edu	37	22	31533838	31533838	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HT-7602-01A-21D-2086-08	TCGA-HT-7602-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88395c0e-4afe-434d-8b20-5a3eef8b7f00	5844876a-d390-4c02-acb9-f32647ca7375	g.chr22:31533838delA	ENST00000215885.3	-	4	1176	c.924delT	c.(922-924)cttfs	p.L308fs		NM_015715.3	NP_056530.2	Q9NZ20	PA2G3_HUMAN	phospholipase A2, group III	308					cilium morphogenesis|lipid catabolic process|phospholipid metabolic process	centriole|extracellular space|plasma membrane	calcium ion binding|calcium-dependent phospholipase A2 activity			large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	18						GCCCCTTCCGAAGGTGCTGCT	0.647													8	244	---	---	---	---						-	31533838	A	-	31533838	7	5	247	1	0	1	0	1	0	0	0	0	12048	233	9	0	621	0	PLA2G3	22	31533838	Frame_Shift_Del	DEL	A	TCGA-HT-7602-01A-21D-2086-08		31533838	19770728	21	26979											
ESPN	83715	broad.mit.edu	37	1	6488429	6488429	+	Silent	SNP	C	C	T	rs142425048	by1000genomes	TCGA-HT-7603-01A-21D-2086-08	TCGA-HT-7603-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dc5918-1fa5-4dba-bb41-e8057e228931	09b29d7c-9b2a-4808-9b8d-1fd650cc4fad	g.chr1:6488429C>T	ENST00000377828.1	+	2	606	c.438C>T	c.(436-438)gcC>gcT	p.A146A		NM_031475.2	NP_113663.2	B1AK53	ESPN_HUMAN	espin	146					sensory perception of sound	brush border|cytoplasm|filamentous actin|stereocilium	actin filament binding|SH3 domain binding			NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)	17	Ovarian(185;0.0386)|all_lung(157;0.154)	all_cancers(23;3.6e-37)|all_epithelial(116;2.56e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|all_hematologic(16;6.92e-06)|Colorectal(325;4.47e-05)|Acute lymphoblastic leukemia(12;4.92e-05)|Breast(487;7.61e-05)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)		Epithelial(90;1.82e-35)|GBM - Glioblastoma multiforme(13;3e-28)|Kidney(185;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(229;5.63e-08)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;1.41e-05)|BRCA - Breast invasive adenocarcinoma(365;0.000109)|STAD - Stomach adenocarcinoma(132;0.00167)|Lung(427;0.0108)|LUSC - Lung squamous cell carcinoma(448;0.0253)|READ - Rectum adenocarcinoma(331;0.0419)		ACTACGCTGCCGCCAAAGGAG	0.647													3	36					0	0	1	0	0	T	6488429	C	T	6488429	2	4	248	1	0	0	0	0	0	0	0	1	5282	639	23	1		1	ESPN	1	6488429	Silent	SNP	C	TCGA-HT-7603-01A-21D-2086-08		6488429	242762192	1	26980											
TMEM79	84283	broad.mit.edu	37	1	156255699	156255699	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7603-01A-21D-2086-08	TCGA-HT-7603-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dc5918-1fa5-4dba-bb41-e8057e228931	09b29d7c-9b2a-4808-9b8d-1fd650cc4fad	g.chr1:156255699C>T	ENST00000405535.2	+	2	853	c.682C>T	c.(682-684)Cgg>Tgg	p.R228W	TMEM79_ENST00000495881.1_3'UTR|TMEM79_ENST00000295694.5_Missense_Mutation_p.R228W|TMEM79_ENST00000357501.2_Intron	NM_032323.2	NP_115699.1	Q9BSE2	TMM79_HUMAN	transmembrane protein 79	228						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|urinary_tract(1)	21	Hepatocellular(266;0.158)					TGATGTCCCACGGCTGCCCAC	0.607													45	112					0	0	1	0	0	T	156255699	C	T	156255699	3	4	248	1	0	0	0	0	1	0	0	0	16263	527	19	1	684	1	TMEM79	1	156255699	Missense_Mutation	SNP	C	TCGA-HT-7603-01A-21D-2086-08	149767270	156255699	92994922	2	26981											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-HT-7603-01A-21D-2086-08	TCGA-HT-7603-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dc5918-1fa5-4dba-bb41-e8057e228931	09b29d7c-9b2a-4808-9b8d-1fd650cc4fad	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								10	31					0	0	1	0	0	T	209113112	C	T	209113112	3	4	248	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HT-7603-01A-21D-2086-08		209113112	34086261	3	26982											
CDV3	55573	broad.mit.edu	37	3	133292940	133292942	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-HT-7603-01A-21D-2086-08	TCGA-HT-7603-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dc5918-1fa5-4dba-bb41-e8057e228931	09b29d7c-9b2a-4808-9b8d-1fd650cc4fad	g.chr3:133292940_133292942delAAG	ENST00000264993.3	+	1	367_369	c.52_54delAAG	c.(52-54)aagdel	p.K22del	CDV3_ENST00000431519.2_In_Frame_Del_p.K22del	NM_001134422.1|NM_001282763.1|NM_017548.4	NP_001127894.1|NP_001269692.1|NP_060018.1	Q9UKY7	CDV3_HUMAN	CDV3 homolog (mouse)	22	Poly-Lys.				cell proliferation	cytoplasm				kidney(3)|lung(1)|prostate(1)	5						CAAGAGGGACAAGAAGAAGAAGA	0.744													2	4	---	---	---	---						-	133292942	AAG	-	133292940	7	5	248	1	0	1	0	1	0	0	0	0	3203	131	5	0	54	0	CDV3	3	133292940	In_Frame_Del	DEL	AAG	TCGA-HT-7603-01A-21D-2086-08		133292940	64729490	4	26983											
CHRNA6	8973	broad.mit.edu	37	8	42620342	42620342	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7603-01A-21D-2086-08	TCGA-HT-7603-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dc5918-1fa5-4dba-bb41-e8057e228931	09b29d7c-9b2a-4808-9b8d-1fd650cc4fad	g.chr8:42620342C>T	ENST00000276410.2	-	2	440	c.85G>A	c.(85-87)Gtg>Atg	p.V29M	CHRNA6_ENST00000530869.1_5'UTR|CHRNA6_ENST00000534622.1_Missense_Mutation_p.V29M	NM_004198.3	NP_004189.1	Q15825	ACHA6_HUMAN	cholinergic receptor, nicotinic, alpha 6 (neuronal)	29						cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			endometrium(2)|large_intestine(3)|liver(1)|lung(15)|ovary(1)	22	all_lung(13;3.33e-12)|Lung NSC(13;9.17e-11)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00439)|Lung NSC(58;0.0124)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	Lung(22;0.0252)|LUSC - Lung squamous cell carcinoma(45;0.0869)			GCACAGCCCACACAGCCTGTG	0.562													25	66					0	0	1	0	0	T	42620342	C	T	42620342	3	4	248	1	0	0	0	0	1	0	0	0	3409	478	17	2	1419	2	CHRNA6	8	42620342	Missense_Mutation	SNP	C	TCGA-HT-7603-01A-21D-2086-08		42620342	103743680	5	26984											
EEF1D	1936	broad.mit.edu	37	8	144668979	144668979	+	Missense_Mutation	SNP	A	A	C			TCGA-HT-7603-01A-21D-2086-08	TCGA-HT-7603-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dc5918-1fa5-4dba-bb41-e8057e228931	09b29d7c-9b2a-4808-9b8d-1fd650cc4fad	g.chr8:144668979A>C	ENST00000532741.1	-	2	1513	c.1285T>G	c.(1285-1287)Ttc>Gtc	p.F429V	EEF1D_ENST00000419152.2_Missense_Mutation_p.F13V|EEF1D_ENST00000532400.1_Missense_Mutation_p.F13V|EEF1D_ENST00000423316.2_Missense_Mutation_p.F379V|EEF1D_ENST00000317198.6_Missense_Mutation_p.F13V|EEF1D_ENST00000395119.3_Missense_Mutation_p.F13V|EEF1D_ENST00000442189.2_Missense_Mutation_p.F379V|EEF1D_ENST00000531621.1_Missense_Mutation_p.F13V|EEF1D_ENST00000524624.1_Missense_Mutation_p.F13V|EEF1D_ENST00000528610.1_Missense_Mutation_p.F13V|EEF1D_ENST00000529272.1_Missense_Mutation_p.F13V|EEF1D_ENST00000526838.1_Missense_Mutation_p.F13V			P29692	EF1D_HUMAN	eukaryotic translation elongation factor 1 delta (guanine nucleotide exchange protein)	13					positive regulation of I-kappaB kinase/NF-kappaB cascade	cytosol|eukaryotic translation elongation factor 1 complex	protein binding|signal transducer activity|translation elongation factor activity			breast(2)|cervix(1)|endometrium(1)|kidney(4)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)			AACTTGTCGAACCAGATCTTC	0.552													4	94					0	0	1	0	0	C	144668979	A	C	144668979	3	2	248	1	0	0	0	0	1	0	0	0	4952	43	2	5	836	5	EEF1D	8	144668979	Missense_Mutation	SNP	A	TCGA-HT-7603-01A-21D-2086-08	102048637	144668979	1695043	6	26985											
FNBP1	23048	broad.mit.edu	37	9	132757223	132757223	+	Missense_Mutation	SNP	G	G	C			TCGA-HT-7603-01A-21D-2086-08	TCGA-HT-7603-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dc5918-1fa5-4dba-bb41-e8057e228931	09b29d7c-9b2a-4808-9b8d-1fd650cc4fad	g.chr9:132757223G>C	ENST00000420781.1	-	2	257	c.39C>G	c.(37-39)aaC>aaG	p.N13K	FNBP1_ENST00000355681.3_Missense_Mutation_p.N13K|FNBP1_ENST00000446176.2_Missense_Mutation_p.N13K			Q96RU3	FNBP1_HUMAN	formin binding protein 1	13	FCH.|Interaction with microtubules (By similarity).|Required for self-association and induction of membrane tubulation.|Self-association, lipid-binding and induction of membrane tubulation.				endocytosis	cell cortex|cytoplasmic membrane-bounded vesicle|cytoskeleton|lysosome|plasma membrane	identical protein binding|lipid binding						Ovarian(14;0.000536)		GBM - Glioblastoma multiforme(294;0.0378)		GTTTTTCTAAGTTGTCAAACT	0.333			T	MLL	AML								23	82					0	0	1	0	0	C	132757223	G	C	132757223	3	2	248	1	0	0	0	0	1	0	0	0	5998	1020	36	4	1878	4	FNBP1	9	132757223	Missense_Mutation	SNP	G	TCGA-HT-7603-01A-21D-2086-08		132757223	8456208	7	26986											
RBP3	5949	broad.mit.edu	37	10	48390723	48390723	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7603-01A-21D-2086-08	TCGA-HT-7603-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dc5918-1fa5-4dba-bb41-e8057e228931	09b29d7c-9b2a-4808-9b8d-1fd650cc4fad	g.chr10:48390723A>G	ENST00000224600.4	-	1	268	c.155T>C	c.(154-156)aTc>aCc	p.I52T		NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	52	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	GGCCTGCTGGATGGCTTCCTG	0.597													9	37					0	0	1	0	0	G	48390723	A	G	48390723	3	3	248	1	0	0	0	0	1	0	0	0	13209	333	12	3	3604	3	RBP3	10	48390723	Missense_Mutation	SNP	A	TCGA-HT-7603-01A-21D-2086-08		48390723	87144024	8	26987											
SLC29A3	55315	broad.mit.edu	37	10	73122070	73122070	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7603-01A-21D-2086-08	TCGA-HT-7603-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dc5918-1fa5-4dba-bb41-e8057e228931	09b29d7c-9b2a-4808-9b8d-1fd650cc4fad	g.chr10:73122070C>T	ENST00000373189.5	+	6	1185	c.1133C>T	c.(1132-1134)gCg>gTg	p.A378V	SLC29A3_ENST00000469204.1_3'UTR	NM_001174098.1|NM_018344.5	NP_001167569.1|NP_060814.4	Q9BZD2	S29A3_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 3	378					nucleobase, nucleoside and nucleotide metabolic process	integral to membrane|late endosome membrane|lysosomal membrane	nucleoside transmembrane transporter activity			endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	15						AATAGCAAGGCGCTCCCAGGG	0.602													30	52					0	0	1	0	0	T	73122070	C	T	73122070	3	4	248	1	0	0	0	0	1	0	0	0	14591	768	27	1	1159	1	SLC29A3	10	73122070	Missense_Mutation	SNP	C	TCGA-HT-7603-01A-21D-2086-08	24731347	73122070	62412677	9	26988											
SFTPD	6441	broad.mit.edu	37	10	81706233	81706233	+	Silent	SNP	G	G	A	rs148973610		TCGA-HT-7603-01A-21D-2086-08	TCGA-HT-7603-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dc5918-1fa5-4dba-bb41-e8057e228931	09b29d7c-9b2a-4808-9b8d-1fd650cc4fad	g.chr10:81706233G>A	ENST00000372292.3	-	2	223	c.183C>T	c.(181-183)ggC>ggT	p.G61G		NM_003019.4	NP_003010.4	P35247	SFTPD_HUMAN	surfactant protein D	61	Collagen-like.				cell junction assembly|innate immune response|lung alveolus development|macrophage chemotaxis|negative regulation of interleukin-2 biosynthetic process|negative regulation of T cell proliferation|positive regulation of phagocytosis|reactive oxygen species metabolic process|receptor-mediated endocytosis|respiratory gaseous exchange|surfactant homeostasis	collagen|endocytic vesicle|extracellular space|lysosome	bacterial cell surface binding|protein binding|sugar binding			endometrium(1)|kidney(3)|large_intestine(5)|lung(3)|skin(4)|urinary_tract(1)	17	Breast(12;0.000615)|Prostate(51;0.0095)|all_epithelial(25;0.027)		Epithelial(14;0.0244)|all cancers(16;0.0558)|Colorectal(32;0.109)			CCCCCTTCTCGCCCCGAGGGC	0.602													3	43					0	0	1	0	0	A	81706233	G	A	81706233	2	1	248	1	0	0	0	0	0	0	0	1	14247	1074	38	1		1	SFTPD	10	81706233	Silent	SNP	G	TCGA-HT-7603-01A-21D-2086-08	8584163	81706233	53828514	10	26989											
OR5P3	120066	broad.mit.edu	37	11	7847281	7847281	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7603-01A-21D-2086-08	TCGA-HT-7603-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dc5918-1fa5-4dba-bb41-e8057e228931	09b29d7c-9b2a-4808-9b8d-1fd650cc4fad	g.chr11:7847281A>G	ENST00000328375.1	-	1	238	c.239T>C	c.(238-240)gTc>gCc	p.V80A	RP11-35J10.5_ENST00000527565.1_lincRNA	NM_153445.1	NP_703146.1	Q8WZ94	OR5P3_HUMAN	olfactory receptor, family 5, subfamily P, member 3	80					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)	15				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CATGAGCATGACAGGTGTGAC	0.478													10	33					0	0	1	0	0	G	7847281	A	G	7847281	3	3	248	1	0	0	0	0	1	0	0	0	11226	275	10	3	699	3	OR5P3	11	7847281	Missense_Mutation	SNP	A	TCGA-HT-7603-01A-21D-2086-08		7847281	127159235	11	26990			1	25		2	2	25	N	C_A	2.558375e-05
OR5P3	120066	broad.mit.edu	37	11	7847305	7847305	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-7603-01A-21D-2086-08	TCGA-HT-7603-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dc5918-1fa5-4dba-bb41-e8057e228931	09b29d7c-9b2a-4808-9b8d-1fd650cc4fad	g.chr11:7847305C>G	ENST00000328375.1	-	1	214	c.215G>C	c.(214-216)gGg>gCg	p.G72A	RP11-35J10.5_ENST00000527565.1_lincRNA	NM_153445.1	NP_703146.1	Q8WZ94	OR5P3_HUMAN	olfactory receptor, family 5, subfamily P, member 3	72					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)	15				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TGAGGAGTACCCAATGTCTAC	0.438													11	37					0	0	1	0	0	G	7847305	C	G	7847305	3	3	248	1	0	0	0	0	1	0	0	0	11226	623	22	5	723	5	OR5P3	11	7847305	Missense_Mutation	SNP	C	TCGA-HT-7603-01A-21D-2086-08	24	7847305	127159211	12	26991			1	25		2	2	25	N	C_A	2.558375e-05
DAGLA	747	broad.mit.edu	37	11	61504739	61504739	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7603-01A-21D-2086-08	TCGA-HT-7603-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dc5918-1fa5-4dba-bb41-e8057e228931	09b29d7c-9b2a-4808-9b8d-1fd650cc4fad	g.chr11:61504739G>A	ENST00000257215.5	+	14	1573	c.1457G>A	c.(1456-1458)cGc>cAc	p.R486H		NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN	diacylglycerol lipase, alpha	486					cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity	p.R486H(1)		breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		TTCCTTCTGCGCCCACAGTAT	0.647													16	253					0	0	1	0	0	A	61504739	G	A	61504739	3	1	248	1	0	0	0	0	1	0	0	0	4250	1087	38	1	1507	1	DAGLA	11	61504739	Missense_Mutation	SNP	G	TCGA-HT-7603-01A-21D-2086-08	53657434	61504739	73501777	13	26992											
C11orf82	220042	broad.mit.edu	37	11	82644345	82644345	+	Silent	SNP	A	A	G			TCGA-HT-7603-01A-21D-2086-08	TCGA-HT-7603-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dc5918-1fa5-4dba-bb41-e8057e228931	09b29d7c-9b2a-4808-9b8d-1fd650cc4fad	g.chr11:82644345A>G	ENST00000533655.1	+	6	2177	c.1965A>G	c.(1963-1965)ggA>ggG	p.G655G	C11orf82_ENST00000525361.1_Intron|C11orf82_ENST00000329143.3_Silent_p.G354G|C11orf82_ENST00000528759.1_3'UTR|C11orf82_ENST00000430323.2_Silent_p.G655G	NM_145018.3	NP_659455.3	Q8IXT1	NOXIN_HUMAN	chromosome 11 open reading frame 82	655					apoptosis|cell cycle arrest	cytoplasm|nucleus				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	33						TGCCTTGGGGACATATCAATA	0.343													8	128					0	0	1	0	0	G	82644345	A	G	82644345	2	3	248	1	0	0	0	0	0	0	0	1	1670	262	10	3		3	C11orf82	11	82644345	Silent	SNP	A	TCGA-HT-7603-01A-21D-2086-08	21139606	82644345	52362171	14	26993											
CLSTN3	9746	broad.mit.edu	37	12	7302188	7302188	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7603-01A-21D-2086-08	TCGA-HT-7603-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dc5918-1fa5-4dba-bb41-e8057e228931	09b29d7c-9b2a-4808-9b8d-1fd650cc4fad	g.chr12:7302188A>G	ENST00000537408.1	+	13	2718	c.2180A>G	c.(2179-2181)gAt>gGt	p.D727G	CLSTN3_ENST00000266546.6_Missense_Mutation_p.D715G			Q9BQT9	CSTN3_HUMAN	calsyntenin 3	715					homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding	p.D715V(1)		NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1)	33						CTGGTGGGGGATGACCTGGAT	0.567													4	36					0	0	1	0	0	G	7302188	A	G	7302188	3	3	248	1	0	0	0	0	1	0	0	0	3586	333	12	3	2198	3	CLSTN3	12	7302188	Missense_Mutation	SNP	A	TCGA-HT-7603-01A-21D-2086-08		7302188	126549707	15	26994											
TAOK3	51347	broad.mit.edu	37	12	118693346	118693346	+	Silent	SNP	T	T	C			TCGA-HT-7603-01A-21D-2086-08	TCGA-HT-7603-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dc5918-1fa5-4dba-bb41-e8057e228931	09b29d7c-9b2a-4808-9b8d-1fd650cc4fad	g.chr12:118693346T>C	ENST00000392533.3	-	3	517	c.27A>G	c.(25-27)ccA>ccG	p.P9P	TAOK3_ENST00000419821.2_Silent_p.P9P	NM_016281.3	NP_057365.3	Q9H2K8	TAOK3_HUMAN	TAO kinase 3	9					MAPKKK cascade|negative regulation of JNK cascade|positive regulation of JNK cascade|protein autophosphorylation	mitochondrion|plasma membrane	ATP binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			central_nervous_system(1)|lung(5)|skin(1)	7	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CGGCAATCTCTGGGTCCTTCA	0.398													10	97					0	0	1	0	0	C	118693346	T	C	118693346	2	2	248	1	0	0	0	0	0	0	0	1	15606	1567	55	3		3	TAOK3	12	118693346	Silent	SNP	T	TCGA-HT-7603-01A-21D-2086-08	111391158	118693346	15158549	16	26995											
RIMBP2	23504	broad.mit.edu	37	12	130898840	130898840	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HT-7603-01A-21D-2086-08	TCGA-HT-7603-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dc5918-1fa5-4dba-bb41-e8057e228931	09b29d7c-9b2a-4808-9b8d-1fd650cc4fad	g.chr12:130898840G>A	ENST00000261655.4	-	14	2645	c.2482C>T	c.(2482-2484)Cga>Tga	p.R828*		NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	828						cell junction|synapse				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		AGGCGGTCTCGCCCGTAATCG	0.567													18	27					0	0	1	0	0	A	130898840	G	A	130898840	4	1	248	1	0	0	0	0	0	1	0	0	13413	1095	38	1	700	1	RIMBP2	12	130898840	Nonsense_Mutation	SNP	G	TCGA-HT-7603-01A-21D-2086-08	12205494	130898840	2953055	17	26996											
RCBTB2	1102	broad.mit.edu	37	13	49070412	49070412	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7603-01A-21D-2086-08	TCGA-HT-7603-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dc5918-1fa5-4dba-bb41-e8057e228931	09b29d7c-9b2a-4808-9b8d-1fd650cc4fad	g.chr13:49070412T>C	ENST00000344532.3	-	14	1853	c.1430A>G	c.(1429-1431)aAg>aGg	p.K477R	RCBTB2_ENST00000430805.2_Missense_Mutation_p.K482R|RCBTB2_ENST00000544492.1_Missense_Mutation_p.K203R	NM_001268.2	NP_001259.1	O95199	RCBT2_HUMAN	regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 2	477							Ran guanyl-nucleotide exchange factor activity			breast(5)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(3)	31		all_cancers(8;4.86e-71)|all_epithelial(8;2.11e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;2.3e-10)|Lung NSC(96;1.07e-07)|Breast(56;1.53e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.00826)|Myeloproliferative disorder(33;0.0179)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(99;1.8e-09)|LUSC - Lung squamous cell carcinoma(3;0.116)		TTGGCAGAGCTTTTTCAAACG	0.463													8	46					0	0	1	0	0	C	49070412	T	C	49070412	3	2	248	1	0	0	0	0	1	0	0	0	13224	1609	56	3	233	3	RCBTB2	13	49070412	Missense_Mutation	SNP	T	TCGA-HT-7603-01A-21D-2086-08		49070412	66099466	18	26997											
FAM124A	220108	broad.mit.edu	37	13	51825995	51825995	+	Silent	SNP	C	C	T			TCGA-HT-7603-01A-21D-2086-08	TCGA-HT-7603-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dc5918-1fa5-4dba-bb41-e8057e228931	09b29d7c-9b2a-4808-9b8d-1fd650cc4fad	g.chr13:51825995C>T	ENST00000322475.8	+	3	627	c.492C>T	c.(490-492)ccC>ccT	p.P164P	FAM124A_ENST00000280057.6_Silent_p.P200P	NM_001242312.1	NP_001229241.1	Q86V42	F124A_HUMAN	family with sequence similarity 124A	164										breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|skin(1)	26		Acute lymphoblastic leukemia(7;0.000334)|Breast(56;0.00156)|Prostate(109;0.00538)|Lung NSC(96;0.0216)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;4.25e-07)		CCATCCGGCCCGTGCACTACG	0.632													4	6					0	0	1	0	0	T	51825995	C	T	51825995	2	4	248	1	0	0	0	0	0	0	0	1	5456	639	23	1		1	FAM124A	13	51825995	Silent	SNP	C	TCGA-HT-7603-01A-21D-2086-08	2755583	51825995	63343883	19	26998											
TNRC6A	27327	broad.mit.edu	37	16	24788378	24788378	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-7603-01A-21D-2086-08	TCGA-HT-7603-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dc5918-1fa5-4dba-bb41-e8057e228931	09b29d7c-9b2a-4808-9b8d-1fd650cc4fad	g.chr16:24788378G>T	ENST00000395799.3	+	5	417	c.288G>T	c.(286-288)caG>caT	p.Q96H	TNRC6A_ENST00000315183.7_Missense_Mutation_p.Q96H	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	96	Gln-rich.				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		agcagccacagcagcagcagc	0.597													11	23					5.50884e-06	5.89317e-06	1	1	0	T	24788378	G	T	24788378	3	4	248	1	0	0	0	0	1	0	0	0	16400	962	34	4	306	4	TNRC6A	16	24788378	Missense_Mutation	SNP	G	TCGA-HT-7603-01A-21D-2086-08		24788378	65566375	20	26999	129	2									
TNRC6A	27327	broad.mit.edu	37	16	24788379	24788379	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HT-7603-01A-21D-2086-08	TCGA-HT-7603-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dc5918-1fa5-4dba-bb41-e8057e228931	09b29d7c-9b2a-4808-9b8d-1fd650cc4fad	g.chr16:24788379C>T	ENST00000395799.3	+	5	418	c.289C>T	c.(289-291)Cag>Tag	p.Q97*	TNRC6A_ENST00000315183.7_Nonsense_Mutation_p.Q97*	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	97	Gln-rich.				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		gcagccacagcagcagcagca	0.602													11	22					0	0	1	0	0	T	24788379	C	T	24788379	4	4	248	1	0	0	0	0	0	1	0	0	16400	711	25	2	307	2	TNRC6A	16	24788379	Nonsense_Mutation	SNP	C	TCGA-HT-7603-01A-21D-2086-08	1	24788379	65566374	21	27000	129	2									
SALL1	6299	broad.mit.edu	37	16	51171049	51171049	+	Missense_Mutation	SNP	C	C	A			TCGA-HT-7603-01A-21D-2086-08	TCGA-HT-7603-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dc5918-1fa5-4dba-bb41-e8057e228931	09b29d7c-9b2a-4808-9b8d-1fd650cc4fad	g.chr16:51171049C>A	ENST00000440970.1	-	3	4089	c.3658G>T	c.(3658-3660)Gac>Tac	p.D1220Y	SALL1_ENST00000566102.1_3'UTR|SALL1_ENST00000541611.1_Missense_Mutation_p.D140Y|SALL1_ENST00000251020.4_Missense_Mutation_p.D1317Y	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	1317					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			TCCTTGCTGTCCTCCACGAAG	0.567													14	35					3.45872e-05	3.61593e-05	1	1	0	A	51171049	C	A	51171049	3	1	248	1	0	0	0	0	1	0	0	0	13862	855	30	5	29	5	SALL1	16	51171049	Missense_Mutation	SNP	C	TCGA-HT-7603-01A-21D-2086-08	26382670	51171049	39183704	22	27001											
ACD	65057	broad.mit.edu	37	16	67694142	67694142	+	Silent	SNP	C	C	T			TCGA-HT-7603-01A-21D-2086-08	TCGA-HT-7603-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dc5918-1fa5-4dba-bb41-e8057e228931	09b29d7c-9b2a-4808-9b8d-1fd650cc4fad	g.chr16:67694142C>T	ENST00000219251.8	-	1	571	c.240G>A	c.(238-240)ccG>ccA	p.P80P	ACD_ENST00000393919.4_Silent_p.P80P	NM_001082486.1|NM_001082487.1|NM_022914.2	NP_001075955.1|NP_001075956.1|NP_075065.2	Q96AP0	ACD_HUMAN	adrenocortical dysplasia homolog (mouse)	80					intracellular protein transport|negative regulation of telomere maintenance via telomerase|positive regulation of single-stranded telomeric DNA binding|positive regulation of telomerase activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|telomere assembly	nuclear telomere cap complex|nucleoplasm	DNA binding|DNA polymerase binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	17		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)		CTACACCCAGCGGATGCAACG	0.706													3	44					0	0	1	0	0	T	67694142	C	T	67694142	2	4	248	1	0	0	0	0	0	0	0	1	135	755	27	1		1	ACD	16	67694142	Silent	SNP	C	TCGA-HT-7603-01A-21D-2086-08	16523093	67694142	22660611	23	27002											
CIRH1A	84916	broad.mit.edu	37	16	69199373	69199373	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-7603-01A-21D-2086-08	TCGA-HT-7603-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dc5918-1fa5-4dba-bb41-e8057e228931	09b29d7c-9b2a-4808-9b8d-1fd650cc4fad	g.chr16:69199373C>G	ENST00000563094.1	+	15	1811	c.1777C>G	c.(1777-1779)Ccg>Gcg	p.P593A	CIRH1A_ENST00000314423.7_Missense_Mutation_p.P593A|CIRH1A_ENST00000352319.4_Missense_Mutation_p.P478A			Q969X6	CIR1A_HUMAN	cirrhosis, autosomal recessive 1A (cirhin)	593						nucleolus	protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1)	16				OV - Ovarian serous cystadenocarcinoma(108;0.125)		TCCCAAGAGACCGATGCACAT	0.463													11	37					0	0	1	0	0	G	69199373	C	G	69199373	3	3	248	1	0	0	0	0	1	0	0	0	3456	507	18	5	1831	5	CIRH1A	16	69199373	Missense_Mutation	SNP	C	TCGA-HT-7603-01A-21D-2086-08	1505231	69199373	21155380	24	27003											
TP53	7157	broad.mit.edu	37	17	7577548	7577548	+	Missense_Mutation	SNP	C	C	T	rs28934575		TCGA-HT-7603-01A-21D-2086-08	TCGA-HT-7603-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dc5918-1fa5-4dba-bb41-e8057e228931	09b29d7c-9b2a-4808-9b8d-1fd650cc4fad	g.chr17:7577548C>T	ENST00000420246.2	-	7	865	c.733G>A	c.(733-735)Ggc>Agc	p.G245S	TP53_ENST00000359597.4_Missense_Mutation_p.G245S|TP53_ENST00000445888.2_Missense_Mutation_p.G245S|TP53_ENST00000413465.2_Missense_Mutation_p.G245S|TP53_ENST00000269305.4_Missense_Mutation_p.G245S|TP53_ENST00000455263.2_Missense_Mutation_p.G245S	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	245	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		G -> A (in sporadic cancers; somatic mutation).|G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> E (in a sporadic cancer; somatic mutation).|G -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|G -> L (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934575).|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.G245S(304)|p.G245C(59)|p.G245R(10)|p.G152S(8)|p.0?(8)|p.?(5)|p.G152C(4)|p.G244_M246>V(3)|p.G245N(2)|p.G245fs*2(2)|p.G245H(1)|p.G245L(1)|p.G244fs*17(1)|p.G245F(1)|p.C242_M246>L(1)|p.C238_M246delCNSSCMGGM(1)|p.G245fs*22(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.M243fs*18(1)|p.G151_M153>V(1)|p.G245del(1)|p.G245fs*14(1)|p.G245fs*17(1)|p.G245fs*16(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CGGTTCATGCCGCCCATGCAG	0.577	G245S(LS1034_LARGE_INTESTINE)|G245S(NUGC2_STOMACH)|G245S(PANC0403_PANCREAS)|G245S(SKLMS1_SOFT_TISSUE)|G245S(SKMEL2_SKIN)	111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			27	18					0	0	1	0	0	T	7577548	C	T	7577548	3	4	248	1	0	0	0	0	1	0	0	0	16442	652	23	1	557	1	TP53	17	7577548	Missense_Mutation	SNP	C	TCGA-HT-7603-01A-21D-2086-08		7577548	73617662	25	27004											
DSG2	1829	broad.mit.edu	37	18	29126613	29126613	+	Silent	SNP	T	T	C			TCGA-HT-7603-01A-21D-2086-08	TCGA-HT-7603-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dc5918-1fa5-4dba-bb41-e8057e228931	09b29d7c-9b2a-4808-9b8d-1fd650cc4fad	g.chr18:29126613T>C	ENST00000261590.8	+	15	3473	c.3264T>C	c.(3262-3264)ttT>ttC	p.F1088F	RP11-75N4.2_ENST00000583706.1_RNA	NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	desmoglein 2	1088					cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			TGCCAGATTTTGGTTTAGAGG	0.473													6	49					0	0	1	0	0	C	29126613	T	C	29126613	2	2	248	1	0	0	0	0	0	0	0	1	4803	1809	63	3		3	DSG2	18	29126613	Silent	SNP	T	TCGA-HT-7603-01A-21D-2086-08		29126613	48950635	26	27005											
GADD45GIP1	90480	broad.mit.edu	37	19	13065170	13065170	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7603-01A-21D-2086-08	TCGA-HT-7603-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dc5918-1fa5-4dba-bb41-e8057e228931	09b29d7c-9b2a-4808-9b8d-1fd650cc4fad	g.chr19:13065170C>T	ENST00000316939.1	-	2	544	c.521G>A	c.(520-522)cGc>cAc	p.R174H		NM_052850.3	NP_443082.2	Q8TAE8	G45IP_HUMAN	growth arrest and DNA-damage-inducible, gamma interacting protein 1	174					cell cycle|interspecies interaction between organisms	nucleus	protein binding			ovary(2)|prostate(1)|skin(1)	4						CTCCTGGAAGCGGGCACTCCT	0.622													17	31					0	0	1	0	0	T	13065170	C	T	13065170	3	4	248	1	0	0	0	0	1	0	0	0	6219	768	27	1	151	1	GADD45GIP1	19	13065170	Missense_Mutation	SNP	C	TCGA-HT-7603-01A-21D-2086-08		13065170	46063813	27	27006											
EMR2	30817	broad.mit.edu	37	19	14876167	14876167	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-7603-01A-21D-2086-08	TCGA-HT-7603-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dc5918-1fa5-4dba-bb41-e8057e228931	09b29d7c-9b2a-4808-9b8d-1fd650cc4fad	g.chr19:14876167C>G	ENST00000315576.3	-	10	1322	c.871G>C	c.(871-873)Gac>Cac	p.D291H	EMR2_ENST00000392964.3_Missense_Mutation_p.D30H|EMR2_ENST00000353876.1_Missense_Mutation_p.D198H|EMR2_ENST00000353005.1_Missense_Mutation_p.D149H|EMR2_ENST00000595839.1_Missense_Mutation_p.D149H|EMR2_ENST00000346057.1_Missense_Mutation_p.D242H|EMR2_ENST00000594076.1_Missense_Mutation_p.D198H|EMR2_ENST00000392967.2_Missense_Mutation_p.D291H|EMR2_ENST00000596991.2_Missense_Mutation_p.D291H|EMR2_ENST00000601345.1_Missense_Mutation_p.D291H|EMR2_ENST00000594294.1_Missense_Mutation_p.D242H|EMR2_ENST00000392965.3_Missense_Mutation_p.D291H	NM_013447.3	NP_038475.2	Q9UHX3	EMR2_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 2	291					cell adhesion|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	48						GGCTTGTAGTCTCTGCCCAGG	0.602													5	91					0	0	1	0	0	G	14876167	C	G	14876167	3	3	248	1	0	0	0	0	1	0	0	0	5133	913	32	4	1648	4	EMR2	19	14876167	Missense_Mutation	SNP	C	TCGA-HT-7603-01A-21D-2086-08	1810997	14876167	44252816	28	27007											
UBA2	10054	broad.mit.edu	37	19	34929585	34929585	+	Silent	SNP	G	G	A			TCGA-HT-7603-01A-21D-2086-08	TCGA-HT-7603-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dc5918-1fa5-4dba-bb41-e8057e228931	09b29d7c-9b2a-4808-9b8d-1fd650cc4fad	g.chr19:34929585G>A	ENST00000439527.2	+	6	705	c.207G>A	c.(205-207)ccG>ccA	p.P69P	UBA2_ENST00000246548.4_Silent_p.P165P			Q9UBT2	SAE2_HUMAN	ubiquitin-like modifier activating enzyme 2	165					protein sumoylation	nucleus	ATP binding|enzyme activator activity|ligase activity|metal ion binding|protein heterodimerization activity|SUMO activating enzyme activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	20	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)			ATCCTAAGCCGACCCAGAGAA	0.403													27	83					0	0	1	0	0	A	34929585	G	A	34929585	2	1	248	1	0	0	0	0	0	0	0	1	16889	1045	37	1		1	UBA2	19	34929585	Silent	SNP	G	TCGA-HT-7603-01A-21D-2086-08	20053418	34929585	24199398	29	27008											
KIF3B	9371	broad.mit.edu	37	20	30897692	30897692	+	Missense_Mutation	SNP	C	C	A			TCGA-HT-7603-01A-21D-2086-08	TCGA-HT-7603-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dc5918-1fa5-4dba-bb41-e8057e228931	09b29d7c-9b2a-4808-9b8d-1fd650cc4fad	g.chr20:30897692C>A	ENST00000375712.3	+	2	279	c.112C>A	c.(112-114)Ctg>Atg	p.L38M		NM_004798.3	NP_004789.1	O15066	KIF3B_HUMAN	kinesin family member 3B	38	Kinesin-motor.				anterograde axon cargo transport|blood coagulation|determination of left/right symmetry|mitotic centrosome separation|plus-end-directed vesicle transport along microtubule|spindle assembly involved in mitosis	centrosome|cytosol|kinesin II complex|plus-end kinesin complex|spindle microtubule	ATP binding|plus-end-directed microtubule motor activity|Rho GTPase binding			NS(2)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			GGATGTTAAGCTGGGGCAGGT	0.522													3	36					1	1	1	1	0	A	30897692	C	A	30897692	3	1	248	1	0	0	0	0	1	0	0	0	8343	796	28	4	114	4	KIF3B	20	30897692	Missense_Mutation	SNP	C	TCGA-HT-7603-01A-21D-2086-08		30897692	32127828	30	27009											
BAGE2	85319	broad.mit.edu	37	21	11085940	11085942	+	RNA	DEL	CAC	CAC	-			TCGA-HT-7603-01A-21D-2086-08	TCGA-HT-7603-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dc5918-1fa5-4dba-bb41-e8057e228931	09b29d7c-9b2a-4808-9b8d-1fd650cc4fad	g.chr21:11085940_11085942delCAC	ENST00000470054.1	-	0	324									B melanoma antigen family, member 2															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)		ccaccaccatcaccaccaccacc	0.532													4	9	---	---	---	---						-	11085942	CAC	-	11085940	6	5	248	0	1	1	0	1	0	0	0	0	1290	841	29	0		0	BAGE2	21	11085940	RNA	DEL	CAC	TCGA-HT-7603-01A-21D-2086-08		11085940	37043955	31	27010											
ATRX	546	broad.mit.edu	37	X	76909629	76909629	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HT-7603-01A-21D-2086-08	TCGA-HT-7603-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dc5918-1fa5-4dba-bb41-e8057e228931	09b29d7c-9b2a-4808-9b8d-1fd650cc4fad	g.chrX:76909629G>A	ENST00000373344.5	-	14	4490	c.4276C>T	c.(4276-4278)Cga>Tga	p.R1426*	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Nonsense_Mutation_p.R1388*	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1426					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.R1426*(1)|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)	TTAATACGTCGCCTTTTCTTT	0.328			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						22	20					0	0	1	0	0	A	76909629	G	A	76909629	4	1	248	1	0	0	0	0	0	1	0	0	1206	1095	38	1	3290	1	ATRX	23	76909629	Nonsense_Mutation	SNP	G	TCGA-HT-7603-01A-21D-2086-08		76909629	78360931	32	27011											
RAP2C	57826	broad.mit.edu	37	X	131351245	131351245	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7603-01A-21D-2086-08	TCGA-HT-7603-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dc5918-1fa5-4dba-bb41-e8057e228931	09b29d7c-9b2a-4808-9b8d-1fd650cc4fad	g.chrX:131351245C>T	ENST00000342983.2	-	2	798	c.52G>A	c.(52-54)Gcc>Acc	p.A18T	RAP2C-AS1_ENST00000421483.2_RNA|RAP2C_ENST00000460462.1_Intron|RAP2C_ENST00000370874.1_Missense_Mutation_p.A18T	NM_001271187.1|NM_021183.4	NP_001258116.1|NP_067006.3	Q9Y3L5	RAP2C_HUMAN	RAP2C, member of RAS oncogene family	18					negative regulation of cell migration|positive regulation of protein autophosphorylation|Rap protein signal transduction|regulation of protein tyrosine kinase activity	recycling endosome membrane	GTP binding|GTPase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|ovary(1)|upper_aerodigestive_tract(2)	8	Acute lymphoblastic leukemia(192;0.000127)					ACAGTAAGGGCAGATTTGCCA	0.507													6	147					0	0	1	0	0	T	131351245	C	T	131351245	3	4	248	1	0	0	0	0	1	0	0	0	13094	710	25	2	507	2	RAP2C	23	131351245	Missense_Mutation	SNP	C	TCGA-HT-7603-01A-21D-2086-08	54441616	131351245	23919315	33	27012											
UTY	7404	broad.mit.edu	37	Y	15410959	15410959	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7603-01A-21D-2086-08	TCGA-HT-7603-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dc5918-1fa5-4dba-bb41-e8057e228931	09b29d7c-9b2a-4808-9b8d-1fd650cc4fad	g.chrY:15410959A>G	ENST00000331397.4	-	24	4462	c.3455T>C	c.(3454-3456)gTc>gCc	p.V1152A	UTY_ENST00000362096.4_Missense_Mutation_p.V1152A|UTY_ENST00000537580.1_Missense_Mutation_p.V1073A|UTY_ENST00000382896.4_Missense_Mutation_p.V1197A	NM_001258267.1|NM_007125.4	NP_001245196.1|NP_009056.3	O14607	UTY_HUMAN	ubiquitously transcribed tetratricopeptide repeat containing, Y-linked	1152	JmjC.				chromatin modification	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			kidney(1)|lung(6)	7						ATACACAGGGACATTTGCTTC	0.383													15	7					0	0	1	0	0	G	15410959	A	G	15410959	3	3	248	1	0	0	0	0	1	0	0	0	17167	275	10	3	612	3	UTY	24	15410959	Missense_Mutation	SNP	A	TCGA-HT-7603-01A-21D-2086-08		15410959	43962607	34	27013											
VPS13D	55187	broad.mit.edu	37	1	12439544	12439544	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr1:12439544A>G	ENST00000358136.3	+	57	11214	c.11084A>G	c.(11083-11085)tAc>tGc	p.Y3695C	VPS13D_ENST00000356315.4_Missense_Mutation_p.Y3670C|VPS13D_ENST00000496628.1_3'UTR	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	3694					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		TTTTCCAGATACGAGCCACTG	0.498													36	53					0	0	1	0	0	G	12439544	A	G	12439544	3	3	249	1	0	0	0	0	1	0	0	0	17252	391	14	3	11306	3	VPS13D	1	12439544	Missense_Mutation	SNP	A	TCGA-HT-7604-01A-11D-2086-08		12439544	236811077	1	27014											
ADAR	103	broad.mit.edu	37	1	154574313	154574313	+	Missense_Mutation	SNP	A	A	C			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr1:154574313A>C	ENST00000368474.4	-	2	1004	c.805T>G	c.(805-807)Tcc>Gcc	p.S269A	ADAR_ENST00000292205.5_Missense_Mutation_p.S312A|ADAR_ENST00000368471.3_5'UTR	NM_001111.4|NM_015840.3|NM_015841.3	NP_001102|NP_056655.2|NP_056656.2	P55265	DSRAD_HUMAN	adenosine deaminase, RNA-specific	269					adenosine to inosine editing|gene silencing by RNA|mRNA modification|mRNA processing|type I interferon-mediated signaling pathway	cytoplasm|nucleolus|nucleoplasm	DNA binding|double-stranded RNA adenosine deaminase activity|metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)		GAGTTTGGGGATCCTTGGCTA	0.488													4	188					0	0	1	0	0	C	154574313	A	C	154574313	3	2	249	1	0	0	0	0	1	0	0	0	280	333	12	4	2931	4	ADAR	1	154574313	Missense_Mutation	SNP	A	TCGA-HT-7604-01A-11D-2086-08	142134769	154574313	94676308	2	27015											
FASLG	356	broad.mit.edu	37	1	172634805	172634805	+	Silent	SNP	C	C	A	rs80358236		TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr1:172634805C>A	ENST00000367721.2	+	4	679	c.495C>A	c.(493-495)acC>acA	p.T165T	FASLG_ENST00000340030.3_3'UTR	NM_000639.1	NP_000630.1	P48023	TNFL6_HUMAN	Fas ligand (TNF superfamily, member 6)	165					activation of caspase activity|activation of pro-apoptotic gene products|cell-cell signaling|immune response|induction of necroptosis by extracellular signals|induction of necroptosis of activated-T cells|necrotic cell death|negative regulation of angiogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|signal transduction	extracellular space|integral to plasma membrane	cytokine activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|skin(1)	19						GGGAAGACACCTATGGAATTG	0.428													5	68					4.096e-09	4.22603e-09	1	1	0	A	172634805	C	A	172634805	2	1	249	1	0	0	0	0	0	0	0	1	5715	668	24	4		4	FASLG	1	172634805	Silent	SNP	C	TCGA-HT-7604-01A-11D-2086-08	18060492	172634805	76615816	3	27016											
APOB	338	broad.mit.edu	37	2	21230555	21230555	+	Nonsense_Mutation	SNP	A	A	C			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr2:21230555A>C	ENST00000233242.1	-	26	9312	c.9185T>G	c.(9184-9186)tTa>tGa	p.L3062*		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	3062					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TGTTAACCTTAATGGAAAACG	0.408													4	63					0	0	1	0	0	C	21230555	A	C	21230555	4	2	249	1	0	0	0	0	0	1	0	0	782	372	13	5	4522	5	APOB	2	21230555	Nonsense_Mutation	SNP	A	TCGA-HT-7604-01A-11D-2086-08		21230555	221968818	4	27017											
TEKT4	150483	broad.mit.edu	37	2	95542422	95542422	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr2:95542422G>A	ENST00000295201.4	+	6	1353	c.1216G>A	c.(1216-1218)Gcc>Acc	p.A406T	AC097374.2_ENST00000568768.1_RNA	NM_144705.2	NP_653306.1	Q8WW24	TEKT4_HUMAN	tektin 4	406					cell projection organization|microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule		p.A406P(1)		NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	28						GGACATTGCCGCCATGACCAA	0.592													18	34					0	0	1	0	0	A	95542422	G	A	95542422	3	1	249	1	0	0	0	0	1	0	0	0	15814	1087	38	1	1238	1	TEKT4	2	95542422	Missense_Mutation	SNP	G	TCGA-HT-7604-01A-11D-2086-08	74311867	95542422	147656951	5	27018											
ZEB2	9839	broad.mit.edu	37	2	145147369	145147369	+	Silent	SNP	T	T	C			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr2:145147369T>C	ENST00000558170.2	-	10	4478	c.3294A>G	c.(3292-3294)aaA>aaG	p.K1098K	ZEB2_ENST00000303660.4_Silent_p.K1098K|ZEB2_ENST00000539609.3_Silent_p.K1074K|ZEB2_ENST00000409487.3_Silent_p.K1098K	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	1098	Glu-rich (acidic).					cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		CCAAGTGCCCTTTCTCGCGCG	0.617													25	60					0	0	1	0	0	C	145147369	T	C	145147369	2	2	249	1	0	0	0	0	0	0	0	1	17682	1606	56	3		3	ZEB2	2	145147369	Silent	SNP	T	TCGA-HT-7604-01A-11D-2086-08	49604947	145147369	98052004	6	27019											
LRP2	4036	broad.mit.edu	37	2	170030513	170030513	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr2:170030513T>C	ENST00000263816.3	-	56	11215	c.10930A>G	c.(10930-10932)Aat>Gat	p.N3644D		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	3644	LDL-receptor class A 29.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	CAGCGGCCATTAGCACACCGA	0.542													33	45					0	0	1	0	0	C	170030513	T	C	170030513	3	2	249	1	0	0	0	0	1	0	0	0	9001	1754	61	3	3133	3	LRP2	2	170030513	Missense_Mutation	SNP	T	TCGA-HT-7604-01A-11D-2086-08	24883144	170030513	73168860	7	27020											
PPIG	9360	broad.mit.edu	37	2	170488410	170488410	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr2:170488410G>A	ENST00000260970.3	+	11	1116	c.896G>A	c.(895-897)aGg>aAg	p.R299K	PPIG_ENST00000409714.3_Missense_Mutation_p.R284K|PPIG_ENST00000482772.1_3'UTR|PPIG_ENST00000448752.2_Missense_Mutation_p.R299K|PPIG_ENST00000462903.1_Missense_Mutation_p.R299K	NM_004792.2	NP_004783.2	Q13427	PPIG_HUMAN	peptidylprolyl isomerase G (cyclophilin G)	299					protein folding|RNA splicing	nuclear matrix|nuclear speck	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(17)|ovary(2)|stomach(1)|urinary_tract(1)	43					L-Proline(DB00172)	gagaaggaaaggaaaaacaga	0.373													14	16					0	0	1	0	0	A	170488410	G	A	170488410	3	1	249	1	0	0	0	0	1	0	0	0	12373	1000	35	2	930	2	PPIG	2	170488410	Missense_Mutation	SNP	G	TCGA-HT-7604-01A-11D-2086-08	457897	170488410	72710963	8	27021											
IDH1	3417	broad.mit.edu	37	2	209113113	209113113	+	Missense_Mutation	SNP	G	G	T	rs121913499		TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	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	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		TAAGCATGACGACCTATGATG	0.398			Mis		gliobastoma								47	45					2.73361e-28	2.91287e-28	1	1	0	T	209113113	G	T	209113113	3	4	249	1	0	0	0	0	1	0	0	0	7538	1058	37	5	878	5	IDH1	2	209113113	Missense_Mutation	SNP	G	TCGA-HT-7604-01A-11D-2086-08	38624703	209113113	34086260	9	27022											
ZFAND2B	130617	broad.mit.edu	37	2	220072487	220072487	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr2:220072487C>G	ENST00000409594.1	+	3	463	c.268C>G	c.(268-270)Cag>Gag	p.Q90E	ZFAND2B_ENST00000409336.1_Missense_Mutation_p.Q90E|ZFAND2B_ENST00000409412.1_Missense_Mutation_p.Q90E|ZFAND2B_ENST00000444522.2_Missense_Mutation_p.Q90E|ZFAND2B_ENST00000409217.1_Missense_Mutation_p.Q90E|ZFAND2B_ENST00000468301.1_3'UTR|ZFAND2B_ENST00000409319.1_Missense_Mutation_p.Q90E|ZFAND2B_ENST00000409206.1_Missense_Mutation_p.Q90E|ZFAND2B_ENST00000409097.1_Missense_Mutation_p.Q90E|ZFAND2B_ENST00000289528.5_Missense_Mutation_p.Q90E			Q8WV99	ZFN2B_HUMAN	zinc finger, AN1-type domain 2B	90						endoplasmic reticulum	protein binding|zinc ion binding			endometrium(2)|kidney(4)|lung(4)|upper_aerodigestive_tract(1)	11		Renal(207;0.0915)		Epithelial(149;1.16e-06)|all cancers(144;0.000191)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGATCCAGCACAGCAAAAACG	0.557													10	82					0	0	1	0	0	G	220072487	C	G	220072487	3	3	249	1	0	0	0	0	1	0	0	0	17686	479	17	5	278	5	ZFAND2B	2	220072487	Missense_Mutation	SNP	C	TCGA-HT-7604-01A-11D-2086-08	10959374	220072487	23126886	10	27023											
OR5H1	26341	broad.mit.edu	37	3	97852349	97852349	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr3:97852349C>G	ENST00000354565.2	+	1	808	c.808C>G	c.(808-810)Caa>Gaa	p.Q270E	RP11-343D2.11_ENST00000508964.1_RNA	NM_001005338.1	NP_001005338.1	A6NKK0	OR5H1_HUMAN	olfactory receptor, family 5, subfamily H, member 1	270					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(7)|kidney(8)|large_intestine(3)|lung(13)|ovary(1)|skin(1)	34						AGCAGATGATCAAGATATGGT	0.428													39	37					0	0	1	0	0	G	97852349	C	G	97852349	3	3	249	1	0	0	0	0	1	0	0	0	11206	827	29	5	810	5	OR5H1	3	97852349	Missense_Mutation	SNP	C	TCGA-HT-7604-01A-11D-2086-08		97852349	100170081	11	27024											
ACAD9	28976	broad.mit.edu	37	3	128628194	128628194	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr3:128628194C>G	ENST00000308982.7	+	15	1574	c.1493C>G	c.(1492-1494)gCc>gGc	p.A498G	ACAD9_ENST00000511526.1_3'UTR	NM_014049.4	NP_054768.2	Q9H845	ACAD9_HUMAN	acyl-CoA dehydrogenase family, member 9	498						mitochondrion	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	30						TAGGACAGTGCCAACAAGTTT	0.587													41	86					0	0	1	0	0	G	128628194	C	G	128628194	3	3	249	1	0	0	0	0	1	0	0	0	111	739	26	5	1551	5	ACAD9	3	128628194	Missense_Mutation	SNP	C	TCGA-HT-7604-01A-11D-2086-08	30775845	128628194	69394236	12	27025											
AADACL2	344752	broad.mit.edu	37	3	151461908	151461908	+	Missense_Mutation	SNP	G	G	C			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr3:151461908G>C	ENST00000356517.3	+	3	498	c.389G>C	c.(388-390)aGa>aCa	p.R130T		NM_207365.3	NP_997248.2	Q6P093	ADCL2_HUMAN	arylacetamide deacetylase-like 2	130						extracellular region|integral to membrane	carboxylesterase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(13)|skin(2)	24			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			TTCCTGAATAGATGGACGGCA	0.358													41	58					0	0	1	0	0	C	151461908	G	C	151461908	3	2	249	1	0	0	0	0	1	0	0	0	11	942	33	4	399	4	AADACL2	3	151461908	Missense_Mutation	SNP	G	TCGA-HT-7604-01A-11D-2086-08	22833714	151461908	46560522	13	27026											
GPBP1	65056	broad.mit.edu	37	5	56546841	56546841	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr5:56546841C>T	ENST00000424459.3	+	11	2367	c.1093C>T	c.(1093-1095)Cga>Tga	p.R365*	GPBP1_ENST00000511209.1_Nonsense_Mutation_p.R337*|GPBP1_ENST00000454432.2_Nonsense_Mutation_p.R365*|GPBP1_ENST00000506184.2_Nonsense_Mutation_p.R345*|GPBP1_ENST00000514387.2_Nonsense_Mutation_p.R174*|GPBP1_ENST00000264779.6_Nonsense_Mutation_p.R352*|GPBP1_ENST00000538707.1_Nonsense_Mutation_p.R352*	NM_022913.3	NP_075064.1	Q86WP2	GPBP1_HUMAN	GC-rich promoter binding protein 1	345					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	19		Lung NSC(810;0.000861)|Prostate(74;0.0305)|Breast(144;0.222)		OV - Ovarian serous cystadenocarcinoma(10;7.64e-39)		GGATATAAACCGAAACTTCGA	0.353													15	29					0	0	1	0	0	T	56546841	C	T	56546841	4	4	249	1	0	0	0	0	0	1	0	0	6635	644	23	1	1088	1	GPBP1	5	56546841	Nonsense_Mutation	SNP	C	TCGA-HT-7604-01A-11D-2086-08		56546841	124368419	14	27027											
PCDHGA12	26025	broad.mit.edu	37	5	140812212	140812212	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr5:140812212C>T	ENST00000252085.3	+	1	2028	c.1886C>T	c.(1885-1887)gCg>gTg	p.A629V	PCDHGA11_ENST00000398587.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1														breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGCGCACGGCGCGAGCCCTG	0.687													12	47					0	0	1	0	0	T	140812212	C	T	140812212	3	4	249	1	0	0	0	0	1	0	0	0	11600	768	27	1	1888	1	PCDHGA12	5	140812212	Missense_Mutation	SNP	C	TCGA-HT-7604-01A-11D-2086-08	84265371	140812212	40103048	15	27028											
SLC44A4	80736	broad.mit.edu	37	6	31832672	31832674	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr6:31832672_31832674delAAG	ENST00000544672.1	-	19	1913_1915	c.1617_1619delCTT	c.(1615-1620)ttcttt>ttt	p.539_540FF>F	SLC44A4_ENST00000229729.6_In_Frame_Del_p.615_616FF>F|SLC44A4_ENST00000375562.4_In_Frame_Del_p.573_574FF>F	NM_001178045.1	NP_001171516.1	Q53GD3	CTL4_HUMAN	solute carrier family 44, member 4	615						integral to membrane|plasma membrane	choline transmembrane transporter activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(1)|urinary_tract(2)	35					Choline(DB00122)	GGAGAAAAAAAAGAAGGACAGGA	0.567													8	17	---	---	---	---						-	31832674	AAG	-	31832672	7	5	249	1	0	1	0	1	0	0	0	0	14693	14	1	0	297	0	SLC44A4	6	31832672	In_Frame_Del	DEL	AAG	TCGA-HT-7604-01A-11D-2086-08		31832672	139282395	16	27029											
PBX2	5089	broad.mit.edu	37	6	32157564	32157564	+	Silent	SNP	C	C	A	rs151067717		TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr6:32157564C>A	ENST00000375050.4	-	1	399	c.129G>T	c.(127-129)ggG>ggT	p.G43G		NM_002586.4	NP_002577.2	P40425	PBX2_HUMAN	pre-B-cell leukemia homeobox 2	43							transcription factor binding			endometrium(1)|kidney(1)|lung(9)|ovary(1)|prostate(2)	14						CTCCCGGGACCCCCCCGCTAC	0.711													32	55					3.62531e-18	3.80073e-18	1	1	0	A	32157564	C	A	32157564	2	1	249	1	0	0	0	0	0	0	0	1	11540	610	22	5		5	PBX2	6	32157564	Silent	SNP	C	TCGA-HT-7604-01A-11D-2086-08	324892	32157564	138957503	17	27030											
UHRF1BP1	54887	broad.mit.edu	37	6	34827130	34827130	+	Silent	SNP	G	G	A	rs73419681	by1000genomes	TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr6:34827130G>A	ENST00000192788.5	+	14	3168	c.2997G>A	c.(2995-2997)gaG>gaA	p.E999E	UHRF1BP1_ENST00000452449.2_Silent_p.E999E	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	999										breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						CTGGCAGGGAGACTGCTGTGA	0.552													30	48					0	0	1	0	0	A	34827130	G	A	34827130	2	1	249	1	0	0	0	0	0	0	0	1	17028	933	33	2		2	UHRF1BP1	6	34827130	Silent	SNP	G	TCGA-HT-7604-01A-11D-2086-08	2669566	34827130	136287937	18	27031											
KIF6	221458	broad.mit.edu	37	6	39513460	39513460	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr6:39513460C>G	ENST00000287152.7	-	11	1280	c.1186G>C	c.(1186-1188)Gaa>Caa	p.E396Q	KIF6_ENST00000373215.3_Missense_Mutation_p.E396Q|KIF6_ENST00000373213.4_Missense_Mutation_p.E235Q|KIF6_ENST00000538893.1_Missense_Mutation_p.E396Q|KIF6_ENST00000373216.3_Missense_Mutation_p.E396Q	NM_145027.4	NP_659464.3	Q6ZMV9	KIF6_HUMAN	kinesin family member 6	396					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						ATTAGTTTTTCCAGCCTAAAA	0.338													3	57					0	0	1	0	0	G	39513460	C	G	39513460	3	3	249	1	0	0	0	0	1	0	0	0	8350	864	30	5	1310	5	KIF6	6	39513460	Missense_Mutation	SNP	C	TCGA-HT-7604-01A-11D-2086-08	4686330	39513460	131601607	19	27032											
CASP8AP2	9994	broad.mit.edu	37	6	90565237	90565237	+	RNA	DEL	A	A	-			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr6:90565237delA	ENST00000551025.1	+	0	1711							Q9UKL3	C8AP2_HUMAN	caspase 8 associated protein 2						cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasm|nucleus	caspase activator activity|death receptor binding|transcription corepressor activity			NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2)	51		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0953)		AGAGCTGATGAAAAAATTTAA	0.279													2	4	---	---	---	---						-	90565237	A	-	90565237	6	5	249	0	1	1	0	1	0	0	0	0	2696	247	9	0		0	CASP8AP2	6	90565237	RNA	DEL	A	TCGA-HT-7604-01A-11D-2086-08	51051777	90565237	80549830	20	27033											
C6orf118	168090	broad.mit.edu	37	6	165715396	165715396	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr6:165715396A>G	ENST00000543069.1	-	2	684	c.103T>C	c.(103-105)Tcc>Ccc	p.S35P	C6orf118_ENST00000230301.8_Missense_Mutation_p.S139P			Q5T5N4	CF118_HUMAN	chromosome 6 open reading frame 118	139										breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)		GAAGTGTGGGAAAGAGAGGCC	0.627													17	103					0	0	1	0	0	G	165715396	A	G	165715396	3	3	249	1	0	0	0	0	1	0	0	0	2337	246	9	3	1026	3	C6orf118	6	165715396	Missense_Mutation	SNP	A	TCGA-HT-7604-01A-11D-2086-08	75150159	165715396	5399671	21	27034											
SDK1	221935	broad.mit.edu	37	7	4185446	4185446	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr7:4185446G>A	ENST00000404826.2	+	29	4460	c.4321G>A	c.(4321-4323)Gac>Aac	p.D1441N	SDK1_ENST00000389531.3_Missense_Mutation_p.D1441N	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1441	Fibronectin type-III 8.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CACAGCCACCGACCTGGCCCC	0.667													93	48					0	0	1	0	0	A	4185446	G	A	4185446	3	1	249	1	0	0	0	0	1	0	0	0	14022	1058	37	1	4435	1	SDK1	7	4185446	Missense_Mutation	SNP	G	TCGA-HT-7604-01A-11D-2086-08		4185446	154953217	22	27035											
PKD1L1	168507	broad.mit.edu	37	7	47897211	47897211	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr7:47897211G>A	ENST00000289672.2	-	28	4632	c.4582C>T	c.(4582-4584)Cct>Tct	p.P1528S		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	1528	REJ.				cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						ACCTGCCCAGGAGCTTGGCTC	0.493													14	15					0	0	1	0	0	A	47897211	G	A	47897211	3	1	249	1	0	0	0	0	1	0	0	0	12012	1174	41	2	4087	2	PKD1L1	7	47897211	Missense_Mutation	SNP	G	TCGA-HT-7604-01A-11D-2086-08	43711765	47897211	111241452	23	27036											
PCLO	27445	broad.mit.edu	37	7	82580131	82580131	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr7:82580131T>C	ENST00000333891.9	-	6	10110	c.9773A>G	c.(9772-9774)gAg>gGg	p.E3258G	PCLO_ENST00000423517.2_Missense_Mutation_p.E3258G	NM_033026.5	NP_149015.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein						cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CTGCAGCTCCTCCAACTTTTT	0.453													10	136					0	0	1	0	0	C	82580131	T	C	82580131	3	2	249	1	0	0	0	0	1	0	0	0	11630	1551	54	3	5752	3	PCLO	7	82580131	Missense_Mutation	SNP	T	TCGA-HT-7604-01A-11D-2086-08	34682920	82580131	76558532	24	27037											
ABCB1	5243	broad.mit.edu	37	7	87214993	87214993	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr7:87214993G>A	ENST00000265724.3	-	5	538	c.121C>T	c.(121-123)Cgc>Tgc	p.R41C	ABCB1_ENST00000543898.1_Missense_Mutation_p.R41C	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	41					G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	TTTGAATAGCGAAACTAAAAA	0.378													18	35					0	0	1	0	0	A	87214993	G	A	87214993	3	1	249	1	0	0	0	0	1	0	0	0	40	1058	37	1	3821	1	ABCB1	7	87214993	Missense_Mutation	SNP	G	TCGA-HT-7604-01A-11D-2086-08	4634862	87214993	71923670	25	27038											
DOCK4	9732	broad.mit.edu	37	7	111617325	111617325	+	Missense_Mutation	SNP	T	T	A			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr7:111617325T>A	ENST00000428084.1	-	8	835	c.563A>T	c.(562-564)cAt>cTt	p.H188L	DOCK4_ENST00000476846.1_5'UTR|DOCK4_ENST00000437633.1_Missense_Mutation_p.H188L			Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	188					cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				TTTCTTCCGATGTCGATGTTC	0.502													10	5					0	0	1	0	0	A	111617325	T	A	111617325	3	1	249	1	0	0	0	0	1	0	0	0	4716	1464	51	4	5517	4	DOCK4	7	111617325	Missense_Mutation	SNP	T	TCGA-HT-7604-01A-11D-2086-08	24402332	111617325	47521338	26	27039											
FOXP2	93986	broad.mit.edu	37	7	114270016	114270018	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr7:114270016_114270018delCAG	ENST00000393500.3	+	11	1148_1150	c.328_330delCAG	c.(328-330)cagdel	p.Q116del	FOXP2_ENST00000350908.4_In_Frame_Del_p.Q191del|FOXP2_ENST00000408937.3_In_Frame_Del_p.Q216del|FOXP2_ENST00000403559.4_In_Frame_Del_p.Q208del|FOXP2_ENST00000393494.2_In_Frame_Del_p.Q191del|FOXP2_ENST00000393498.2_In_Frame_Del_p.Q171del|FOXP2_ENST00000393491.3_In_Frame_Del_p.Q99del|FOXP2_ENST00000390668.3_In_Frame_Del_p.Q215del|FOXP2_ENST00000378237.3_In_Frame_Del_p.Q191del|FOXP2_ENST00000360232.4_In_Frame_Del_p.Q191del|FOXP2_ENST00000393489.3_In_Frame_Del_p.Q99del			O15409	FOXP2_HUMAN	forkhead box P2	191	Gln-rich.				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding	p.Q210Q(2)		breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						gcagcagcaacagcagcagcagc	0.507													7	70	---	---	---	---						-	114270018	CAG	-	114270016	7	5	249	1	0	1	0	1	0	0	0	0	6061	479	17	0	701	0	FOXP2	7	114270016	In_Frame_Del	DEL	CAG	TCGA-HT-7604-01A-11D-2086-08	2652691	114270016	44868647	27	27040											
SLC20A2	6575	broad.mit.edu	37	8	42297083	42297083	+	Silent	SNP	C	C	T			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr8:42297083C>T	ENST00000342228.3	-	7	1188	c.819G>A	c.(817-819)gaG>gaA	p.E273E	SLC20A2_ENST00000520179.1_Silent_p.E273E|SLC20A2_ENST00000520262.1_Silent_p.E273E	NM_006749.4	NP_006740.1	Q08357	S20A2_HUMAN	solute carrier family 20 (phosphate transporter), member 2	273					interspecies interaction between organisms	integral to plasma membrane|membrane fraction	inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity			breast(1)|endometrium(6)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|stomach(1)	26	all_lung(13;8.33e-12)|Lung NSC(13;1.41e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	BRCA - Breast invasive adenocarcinoma(8;5.73e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00419)|Lung(22;0.0302)|LUSC - Lung squamous cell carcinoma(45;0.0869)			CACCTGGTAGCTCTTTAAATA	0.517													103	140					0	0	1	0	0	T	42297083	C	T	42297083	2	4	249	1	0	0	0	0	0	0	0	1	14494	796	28	2		2	SLC20A2	8	42297083	Silent	SNP	C	TCGA-HT-7604-01A-11D-2086-08		42297083	104066939	28	27041											
GATA3	2625	broad.mit.edu	37	10	8100386	8100386	+	Silent	SNP	G	G	A			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr10:8100386G>A	ENST00000379328.3	+	3	928	c.360G>A	c.(358-360)acG>acA	p.T120T	GATA3_ENST00000346208.3_Silent_p.T120T|GATA3_ENST00000461472.1_3'UTR	NM_001002295.1|NM_002051.2	NP_001002295.1|NP_002042.1	P23771	GATA3_HUMAN	GATA binding protein 3	120					aortic valve morphogenesis|blood coagulation|canonical Wnt receptor signaling pathway involved in metanephric kidney development|cardiac right ventricle morphogenesis|cell fate determination|cellular response to interferon-alpha|cellular response to interleukin-4|cellular response to tumor necrosis factor|defense response|ear development|lymphocyte migration|male gonad development|mesenchymal to epithelial transition|mesonephros development|negative regulation of cell cycle|negative regulation of cell motility|negative regulation of cell proliferation involved in mesonephros development|negative regulation of endothelial cell apoptosis|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation|negative regulation of inflammatory response|negative regulation of mammary gland epithelial cell proliferation|nephric duct formation|norepinephrine biosynthetic process|pharyngeal system development|phosphatidylinositol 3-kinase cascade|positive regulation of endothelial cell migration|positive regulation of interleukin-13 secretion|positive regulation of interleukin-4 production|positive regulation of interleukin-5 secretion|positive regulation of protein kinase B signaling cascade|positive regulation of T cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of ureteric bud formation|regulation of cellular response to X-ray|regulation of cytokine biosynthetic process|regulation of nephron tubule epithelial cell differentiation|response to estrogen stimulus|response to virus|sympathetic nervous system development|T cell receptor signaling pathway|TOR signaling cascade|ureteric bud formation|uterus development|ventricular septum development	nuclear chromatin|nucleolus|nucleoplasm	core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|E-box binding|HMG box domain binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription coactivator activity|transcription factor binding|zinc ion binding	p.T120T(1)		NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2)	87						TCTCCAAGACGTCCATCCACC	0.697			"F, N, S"		breast		"HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"						75	117					0	0	1	0	0	A	8100386	G	A	8100386	2	1	249	1	0	0	0	0	0	0	0	1	6295	1132	40	1		1	GATA3	10	8100386	Silent	SNP	G	TCGA-HT-7604-01A-11D-2086-08		8100386	127434361	29	27042											
FRMD4A	55691	broad.mit.edu	37	10	13698931	13698931	+	Silent	SNP	G	G	A			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr10:13698931G>A	ENST00000357447.2	-	22	3026	c.2658C>T	c.(2656-2658)ggC>ggT	p.G886G	FRMD4A_ENST00000358621.4_Silent_p.G871G|FRMD4A_ENST00000378503.1_Silent_p.G886G	NM_018027.3	NP_060497.3	Q9P2Q2	FRM4A_HUMAN	FERM domain containing 4A	886						cytoplasm|cytoskeleton	binding			breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						CGTCGCCGCCGCCGCCGCGCC	0.716													4	8					0	0	1	0	0	A	13698931	G	A	13698931	2	1	249	1	0	0	0	0	0	0	0	1	6086	1074	38	1		1	FRMD4A	10	13698931	Silent	SNP	G	TCGA-HT-7604-01A-11D-2086-08	5598545	13698931	121835816	30	27043											
OR4X2	119764	broad.mit.edu	37	11	48267032	48267032	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr11:48267032C>G	ENST00000302329.3	+	1	425	c.377C>G	c.(376-378)aCc>aGc	p.T126S		NM_001004727.1	NP_001004727.1	Q8NGF9	OR4X2_HUMAN	olfactory receptor, family 4, subfamily X, member 2	126					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(4)|lung(12)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	20						AGCTACACCACCATCATGAAC	0.498													6	87					0	0	1	0	0	G	48267032	C	G	48267032	3	3	249	1	0	0	0	0	1	0	0	0	11133	507	18	5	379	5	OR4X2	11	48267032	Missense_Mutation	SNP	C	TCGA-HT-7604-01A-11D-2086-08		48267032	86739484	31	27044											
CPSF7	79869	broad.mit.edu	37	11	61178544	61178544	+	Silent	SNP	G	G	A			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr11:61178544G>A	ENST00000340437.4	-	9	1496	c.1416C>T	c.(1414-1416)agC>agT	p.S472S	CPSF7_ENST00000448745.1_Silent_p.S420S|CPSF7_ENST00000394888.4_Silent_p.S429S|CPSF7_ENST00000439958.3_Silent_p.S420S	NM_024811.3	NP_079087.3	Q8N684	CPSF7_HUMAN	cleavage and polyadenylation specific factor 7, 59kDa	429					mRNA 3'-end processing|nuclear mRNA splicing, via spliceosome|protein tetramerization|termination of RNA polymerase II transcription	mRNA cleavage factor complex	nucleotide binding|protein binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	22						CCCGGGACCGGCTAGGTGACC	0.502													46	68					0	0	1	0	0	A	61178544	G	A	61178544	2	1	249	1	0	0	0	0	0	0	0	1	3853	1194	42	2		2	CPSF7	11	61178544	Silent	SNP	G	TCGA-HT-7604-01A-11D-2086-08	12911512	61178544	73827972	32	27045											
FGF3	2248	broad.mit.edu	37	11	69631175	69631175	+	Silent	SNP	C	C	T			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr11:69631175C>T	ENST00000334134.2	-	2	327	c.237G>A	c.(235-237)acG>acA	p.T79T		NM_005247.2	NP_005238.1	P11487	FGF3_HUMAN	fibroblast growth factor 3	79					fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|negative regulation of cardiac muscle tissue development|positive regulation of cell division|positive regulation of cell proliferation	extracellular region	growth factor activity	p.T79T(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|urinary_tract(1)	13			LUSC - Lung squamous cell carcinoma(11;5.05e-15)|STAD - Stomach adenocarcinoma(18;0.0278)			CCTCCACTGCCGTTATCTCCA	0.622													4	95					0	0	1	0	0	T	69631175	C	T	69631175	2	4	249	1	0	0	0	0	0	0	0	1	5886	639	23	1		1	FGF3	11	69631175	Silent	SNP	C	TCGA-HT-7604-01A-11D-2086-08	8452631	69631175	65375341	33	27046											
TYR	7299	broad.mit.edu	37	11	88961080	88961080	+	Missense_Mutation	SNP	C	C	G	rs61754389		TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr11:88961080C>G	ENST00000263321.5	+	3	1628	c.1126C>G	c.(1126-1128)Cag>Gag	p.Q376E		NM_000372.4	NP_000363.1	P14679	TYRO_HUMAN	tyrosinase	376				TMSQVQ -> HVPGT (in Ref. 2; AAA61241).	eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception	Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm	copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)			Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157)	AACAATGTCCCAGGTACAGGG	0.413													15	103					0	0	1	0	0	G	88961080	C	G	88961080	3	3	249	1	0	0	0	0	1	0	0	0	16875	595	21	5	1136	5	TYR	11	88961080	Missense_Mutation	SNP	C	TCGA-HT-7604-01A-11D-2086-08	19329905	88961080	46045436	34	27047											
C11orf65	160140	broad.mit.edu	37	11	108256655	108256655	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr11:108256655T>C	ENST00000525729.1	-	6	701	c.632A>G	c.(631-633)aAc>aGc	p.N211S	C11orf65_ENST00000393084.1_Missense_Mutation_p.N260S|C11orf65_ENST00000529391.1_Missense_Mutation_p.N260S|C11orf65_ENST00000526725.1_Intron			Q8NCR3	CK065_HUMAN	chromosome 11 open reading frame 65	260										endometrium(1)|large_intestine(3)|lung(4)|ovary(2)	10		all_cancers(61;1.38e-11)|all_epithelial(67;3.16e-07)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;8.21e-06)|BRCA - Breast invasive adenocarcinoma(274;1.01e-05)|all cancers(92;0.000189)|Colorectal(284;0.114)|OV - Ovarian serous cystadenocarcinoma(223;0.144)		ACCTTTGAAGTTAGCCGAAGA	0.333													13	197					0	0	1	0	0	C	108256655	T	C	108256655	3	2	249	1	0	0	0	0	1	0	0	0	1660	1725	60	3	170	3	C11orf65	11	108256655	Missense_Mutation	SNP	T	TCGA-HT-7604-01A-11D-2086-08	19295575	108256655	26749861	35	27048											
NNMT	4837	broad.mit.edu	37	11	114182852	114182852	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr11:114182852G>A	ENST00000535401.1	+	5	712	c.448G>A	c.(448-450)Ggg>Agg	p.G150R	NNMT_ENST00000541754.1_5'UTR|RP11-64D24.2_ENST00000544925.1_RNA|NNMT_ENST00000542647.1_5'UTR|NNMT_ENST00000545255.1_5'UTR|NNMT_ENST00000299964.3_Missense_Mutation_p.G150R			P40261	NNMT_HUMAN	nicotinamide N-methyltransferase	150					xenobiotic metabolic process	cytosol	nicotinamide N-methyltransferase activity|pyridine N-methyltransferase activity			kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(61;4.83e-16)|all_epithelial(67;7.28e-09)|all_hematologic(158;0.000135)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906)		BRCA - Breast invasive adenocarcinoma(274;2.79e-06)|Epithelial(105;1.32e-05)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.128)	Niacin(DB00627)	CCAGCCACTGGGGGCCGTCCC	0.602													82	71					0	0	1	0	0	A	114182852	G	A	114182852	3	1	249	1	0	0	0	0	1	0	0	0	10556	1232	43	2	458	2	NNMT	11	114182852	Missense_Mutation	SNP	G	TCGA-HT-7604-01A-11D-2086-08	5926197	114182852	20823664	36	27049											
H2AFX	3014	broad.mit.edu	37	11	118965808	118965809	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr11:118965808_118965809insC	ENST00000530167.1	-	1	368_369	c.296_297insG	c.(295-297)ggcfs	p.G99fs		NM_002105.2	NP_002096.1	P16104	H2AX_HUMAN	H2A histone family, member X	99					DNA damage checkpoint|double-strand break repair via homologous recombination|meiosis|nucleosome assembly|positive regulation of DNA repair|response to ionizing radiation	nucleoplasm|nucleosome	DNA binding|enzyme binding|histone binding			lung(3)	3	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.47e-05)		TCGTCACGCCGCCCAGCAGCTT	0.693								Chromatin Structure			OREG0021395	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	73	191	---	---	---	---						C	118965809	-	C	118965808	7	5	249	1	0	1	1	0	0	0	0	0	6969	1074	38	0	138	0	H2AFX	11	118965808	Frame_Shift_Ins	INS	-	TCGA-HT-7604-01A-11D-2086-08	4782956	118965808	16040708	37	27050											
ITPR2	3709	broad.mit.edu	37	12	26985668	26985668	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr12:26985668G>A	ENST00000381340.3	-	1	463	c.47C>T	c.(46-48)tCc>tTc	p.S16F	ITPR2_ENST00000242737.5_Missense_Mutation_p.S16F	NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	16					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					CGCGTACAGGGACACGATGTC	0.622													27	123					0	0	1	0	0	A	26985668	G	A	26985668	3	1	249	1	0	0	0	0	1	0	0	0	7965	1174	41	2	8286	2	ITPR2	12	26985668	Missense_Mutation	SNP	G	TCGA-HT-7604-01A-11D-2086-08		26985668	106866227	38	27051											
IGDCC4	57722	broad.mit.edu	37	15	65684524	65684524	+	Silent	SNP	C	C	T			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr15:65684524C>T	ENST00000352385.2	-	11	2279	c.2070G>A	c.(2068-2070)gtG>gtA	p.V690V		NM_020962.1	NP_066013.1	Q8TDY8	IGDC4_HUMAN	immunoglobulin superfamily, DCC subclass, member 4	690	Fibronectin type-III 3.					integral to membrane|plasma membrane				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						GGACAGGCCCCACATCCCAAG	0.622													52	84					0	0	1	0	0	T	65684524	C	T	65684524	2	4	249	1	0	0	0	0	0	0	0	1	7613	581	21	2		2	IGDCC4	15	65684524	Silent	SNP	C	TCGA-HT-7604-01A-11D-2086-08		65684524	36846868	39	27052											
MGRN1	23295	broad.mit.edu	37	16	4732911	4732911	+	Silent	SNP	C	C	T			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr16:4732911C>T	ENST00000399577.5	+	14	1539	c.1446C>T	c.(1444-1446)ggC>ggT	p.G482G	MGRN1_ENST00000262370.7_Silent_p.G482G|MGRN1_ENST00000586183.1_Silent_p.G460G|MGRN1_ENST00000415496.1_Silent_p.G461G|MGRN1_ENST00000588994.1_Silent_p.G460G	NM_001142290.2	NP_001135762.1	O60291	MGRN1_HUMAN	mahogunin ring finger 1, E3 ubiquitin protein ligase	482					endosome to lysosome transport|negative regulation of cAMP-mediated signaling|negative regulation of G-protein coupled receptor protein signaling pathway|protein monoubiquitination	cytosol|early endosome|nucleus|plasma membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18						CACTGGGTGGCGCAGAGCTGG	0.701													12	13					0	0	1	0	0	T	4732911	C	T	4732911	2	4	249	1	0	0	0	0	0	0	0	1	9608	755	27	1		1	MGRN1	16	4732911	Silent	SNP	C	TCGA-HT-7604-01A-11D-2086-08		4732911	85621842	40	27053											
IRF8	3394	broad.mit.edu	37	16	85952180	85952180	+	Silent	SNP	G	G	A			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr16:85952180G>A	ENST00000268638.5	+	7	1181	c.759G>A	c.(757-759)ccG>ccA	p.P253P	IRF8_ENST00000562492.1_Silent_p.P49P	NM_002163.2	NP_002154.1	Q02556	IRF8_HUMAN	interferon regulatory factor 8	253					interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	nucleus	DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	24		Prostate(104;0.0771)				TGCGCTTCCCGCCGGCCGACG	0.741													14	5					0	0	1	0	0	A	85952180	G	A	85952180	2	1	249	1	0	0	0	0	0	0	0	1	7880	1074	38	1		1	IRF8	16	85952180	Silent	SNP	G	TCGA-HT-7604-01A-11D-2086-08	81219269	85952180	4402573	41	27054											
TP53	7157	broad.mit.edu	37	17	7577570	7577570	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr17:7577570C>T	ENST00000420246.2	-	7	843	c.711G>A	c.(709-711)atG>atA	p.M237I	TP53_ENST00000269305.4_Missense_Mutation_p.M237I|TP53_ENST00000455263.2_Missense_Mutation_p.M237I|TP53_ENST00000445888.2_Missense_Mutation_p.M237I|TP53_ENST00000359597.4_Missense_Mutation_p.M237I|TP53_ENST00000413465.2_Missense_Mutation_p.M237I	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	237	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).		M -> I (in LFS; germline mutation and in sporadic cancers; somatic mutation).|M -> K (in sporadic cancers; somatic mutation).|M -> L (in sporadic cancers; somatic mutation).|M -> R (in sporadic cancers; somatic mutation).|M -> T (in sporadic cancers; somatic mutation).|M -> V (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.M237I(109)|p.0?(8)|p.?(5)|p.M144I(4)|p.M237_N239delMCN(4)|p.Y236_M237delYM(1)|p.H233fs*6(1)|p.M144_N146delMCN(1)|p.Y236_M243delYMCNSSCM(1)|p.C238fs*2(1)|p.V225fs*23(1)|p.M237_C238insX(1)|p.H233_C242del10(1)|p.M237fs*1(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)		AACTGTTACACATGTAGTTGT	0.567		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)			35	51					0	0	1	0	0	T	7577570	C	T	7577570	3	4	249	1	0	0	0	0	1	0	0	0	16442	478	17	2	579	2	TP53	17	7577570	Missense_Mutation	SNP	C	TCGA-HT-7604-01A-11D-2086-08		7577570	73617640	42	27055											
TP53	7157	broad.mit.edu	37	17	7578263	7578263	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr17:7578263G>A	ENST00000420246.2	-	6	718	c.586C>T	c.(586-588)Cga>Tga	p.R196*	TP53_ENST00000574684.1_Intron|TP53_ENST00000269305.4_Nonsense_Mutation_p.R196*|TP53_ENST00000455263.2_Nonsense_Mutation_p.R196*|TP53_ENST00000445888.2_Nonsense_Mutation_p.R196*|TP53_ENST00000359597.4_Nonsense_Mutation_p.R196*|TP53_ENST00000413465.2_Nonsense_Mutation_p.R196*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	196	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (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.R196*(167)|p.R64*(14)|p.R103*(14)|p.0?(8)|p.R196fs*51(7)|p.?(5)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.R196R(2)|p.I195fs*50(1)|p.R64fs*>27(1)|p.R103fs*51(1)|p.P191fs*6(1)|p.I195_G199delIRVEG(1)|p.P98_E105>Q(1)|p.I195fs*12(1)|p.P59_E66>Q(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)		CCTTCCACTCGGATAAGATGC	0.552		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)			24	38					0	0	1	0	0	A	7578263	G	A	7578263	4	1	249	1	0	0	0	0	0	1	0	0	16442	1124	39	1	708	1	TP53	17	7578263	Nonsense_Mutation	SNP	G	TCGA-HT-7604-01A-11D-2086-08	693	7578263	73616947	43	27056											
CLUL1	27098	broad.mit.edu	37	18	618009	618009	+	Silent	SNP	G	G	A			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr18:618009G>A	ENST00000581619.1	+	2	931	c.84G>A	c.(82-84)ccG>ccA	p.P28P	CLUL1_ENST00000540035.1_Silent_p.P55P|CLUL1_ENST00000338387.7_Silent_p.P3P|CLUL1_ENST00000580436.1_3'UTR|CLUL1_ENST00000400606.2_Silent_p.P3P|CLUL1_ENST00000579494.1_Silent_p.P3P			Q15846	CLUL1_HUMAN	clusterin-like 1 (retinal)	3					cell death	extracellular region				NS(1)|breast(1)|endometrium(5)|large_intestine(5)|liver(2)|lung(7)|ovary(2)|skin(1)	24						ACATGAAGCCGCCACTCTTGG	0.448													5	34					0	0	1	0	0	A	618009	G	A	618009	2	1	249	1	0	0	0	0	0	0	0	1	3593	1074	38	1		1	CLUL1	18	618009	Silent	SNP	G	TCGA-HT-7604-01A-11D-2086-08		618009	77459239	44	27057											
LIPG	9388	broad.mit.edu	37	18	47107968	47107968	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr18:47107968T>C	ENST00000261292.4	+	6	1255	c.977T>C	c.(976-978)aTg>aCg	p.M326T	LIPG_ENST00000577628.1_Missense_Mutation_p.M362T|LIPG_ENST00000580036.1_Missense_Mutation_p.M326T|LIPG_ENST00000427224.2_Missense_Mutation_p.M252T	NM_006033.2	NP_006024.1	Q9Y5X9	LIPE_HUMAN	lipase, endothelial	326	Heparin-binding (By similarity).				cholesterol homeostasis|high-density lipoprotein particle remodeling|phospholipid catabolic process|phospholipid homeostasis|positive regulation of cholesterol transport|positive regulation of high-density lipoprotein particle clearance|reverse cholesterol transport	extracellular space	heparin binding|lipoprotein lipase activity|phospholipase A1 activity|protein binding|triglyceride lipase activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(2)	18						GCCAAGAAAATGAGGAACAAG	0.493													62	77					0	0	1	0	0	C	47107968	T	C	47107968	3	2	249	1	0	0	0	0	1	0	0	0	8864	1464	51	3	999	3	LIPG	18	47107968	Missense_Mutation	SNP	T	TCGA-HT-7604-01A-11D-2086-08	46489959	47107968	30969280	45	27058											
NFATC1	4772	broad.mit.edu	37	18	77227575	77227575	+	Silent	SNP	C	C	T			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr18:77227575C>T	ENST00000253506.5	+	8	2454	c.2085C>T	c.(2083-2085)ccC>ccT	p.P695P	NFATC1_ENST00000542384.1_Silent_p.P695P|NFATC1_ENST00000591814.1_Silent_p.P695P|NFATC1_ENST00000329101.4_Silent_p.P682P|NFATC1_ENST00000427363.2_Silent_p.P695P|NFATC1_ENST00000545796.1_Silent_p.P223P|NFATC1_ENST00000586434.1_Silent_p.P682P|NFATC1_ENST00000592223.1_Silent_p.P682P|NFATC1_ENST00000397790.2_Silent_p.P223P|NFATC1_ENST00000587635.1_3'UTR|NFATC1_ENST00000318065.5_Silent_p.P682P	NM_006162.3	NP_006153.2	O95644	NFAC1_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1	695					intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1)	40		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)		CCTACCTTCCCGCCAACGGTA	0.532													24	46					0	0	1	0	0	T	77227575	C	T	77227575	2	4	249	1	0	0	0	0	0	0	0	1	10408	639	23	1		1	NFATC1	18	77227575	Silent	SNP	C	TCGA-HT-7604-01A-11D-2086-08	30119607	77227575	849673	46	27059											
MUC16	94025	broad.mit.edu	37	19	9062722	9062722	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr19:9062722T>C	ENST00000397910.4	-	3	24927	c.24724A>G	c.(24724-24726)Acc>Gcc	p.T8242A		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8244	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ACAAGAGTGGTCATCTCTGAG	0.498													26	25					0	0	1	0	0	C	9062722	T	C	9062722	3	2	249	1	0	0	0	0	1	0	0	0	10021	1667	58	3	19127	3	MUC16	19	9062722	Missense_Mutation	SNP	T	TCGA-HT-7604-01A-11D-2086-08		9062722	50066261	47	27060											
HKR1	284459	broad.mit.edu	37	19	37838730	37838730	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr19:37838730C>T	ENST00000324411.4	+	5	538	c.269C>T	c.(268-270)gCg>gTg	p.A90V	HKR1_ENST00000541583.2_Missense_Mutation_p.A29V|HKR1_ENST00000544914.1_5'UTR|HKR1_ENST00000392153.3_Missense_Mutation_p.A71V|HKR1_ENST00000591259.1_Missense_Mutation_p.A71V|HKR1_ENST00000586897.1_Missense_Mutation_p.A29V|HKR1_ENST00000591417.1_Missense_Mutation_p.A29V|HKR1_ENST00000591134.1_Missense_Mutation_p.A29V|HKR1_ENST00000589392.1_Missense_Mutation_p.A71V|HKR1_ENST00000592168.1_Missense_Mutation_p.A29V|HKR1_ENST00000591471.1_5'UTR	NM_181786.2	NP_861451.1	P10072	HKR1_HUMAN	HKR1, GLI-Kruppel zinc finger family member	90	KRAB.				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CGAGGGGAAGCGCCCTGGAGA	0.493													3	52					0	0	1	0	0	T	37838730	C	T	37838730	3	4	249	1	0	0	0	0	1	0	0	0	7235	768	27	1	279	1	HKR1	19	37838730	Missense_Mutation	SNP	C	TCGA-HT-7604-01A-11D-2086-08	28776008	37838730	21290253	48	27061											
RYR1	6261	broad.mit.edu	37	19	38995497	38995497	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr19:38995497A>G	ENST00000355481.4	+	51	8308	c.8177A>G	c.(8176-8178)aAg>aGg	p.K2726R	RYR1_ENST00000359596.3_Missense_Mutation_p.K2726R|RYR1_ENST00000360985.3_Missense_Mutation_p.K2726R	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	2726	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GCAGAGAAAAAGGCCACAGTG	0.597													3	51					0	0	1	0	0	G	38995497	A	G	38995497	3	3	249	1	0	0	0	0	1	0	0	0	13820	72	3	3	8379	3	RYR1	19	38995497	Missense_Mutation	SNP	A	TCGA-HT-7604-01A-11D-2086-08	1156767	38995497	20133486	49	27062											
MYPOP	339344	broad.mit.edu	37	19	46394511	46394511	+	Silent	SNP	C	C	T			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr19:46394511C>T	ENST00000322217.5	-	3	656	c.570G>A	c.(568-570)caG>caA	p.Q190Q		NM_001012643.2	NP_001012661.1	Q86VE0	MYPOP_HUMAN	Myb-related transcription factor, partner of profilin	190	Pro-rich.					nucleus	DNA binding			large_intestine(2)|lung(1)|skin(1)	4						AGCCCCCTTCCTGGGGAGTGC	0.677													6	0					0	0	1	0	0	T	46394511	C	T	46394511	2	4	249	1	0	0	0	0	0	0	0	1	10147	680	24	2		2	MYPOP	19	46394511	Silent	SNP	C	TCGA-HT-7604-01A-11D-2086-08	7399014	46394511	12734472	50	27063											
ZC3H4	23211	broad.mit.edu	37	19	47593321	47593321	+	Silent	SNP	G	G	A			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr19:47593321G>A	ENST00000253048.5	-	5	655	c.618C>T	c.(616-618)ggC>ggT	p.G206G	ZC3H4_ENST00000594019.1_5'UTR	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	206							nucleic acid binding|zinc ion binding			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		CCTCCTCGTCGCCCTCATATT	0.577													39	72					0	0	1	0	0	A	47593321	G	A	47593321	2	1	249	1	0	0	0	0	0	0	0	1	17629	1074	38	1		1	ZC3H4	19	47593321	Silent	SNP	G	TCGA-HT-7604-01A-11D-2086-08	1198810	47593321	11535662	51	27064											
CCDC155	147872	broad.mit.edu	37	19	49898432	49898432	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr19:49898432G>A	ENST00000447857.3	+	4	423	c.218G>A	c.(217-219)cGc>cAc	p.R73H		NM_144688.4	NP_653289.3	Q8N6L0	CC155_HUMAN	coiled-coil domain containing 155	73						integral to membrane	calcium ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(10)|ovary(1)|stomach(1)	22						CAGGATGCACGCCTCCAAACA	0.622													5	47					0	0	1	0	0	A	49898432	G	A	49898432	3	1	249	1	0	0	0	0	1	0	0	0	2807	1087	38	1	228	1	CCDC155	19	49898432	Missense_Mutation	SNP	G	TCGA-HT-7604-01A-11D-2086-08	2305111	49898432	9230551	52	27065											
C20orf194	25943	broad.mit.edu	37	20	3356865	3356865	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr20:3356865T>C	ENST00000252032.9	-	4	435	c.368A>G	c.(367-369)cAt>cGt	p.H123R		NM_001009984.2	NP_001009984.1	Q5TEA3	CT194_HUMAN	chromosome 20 open reading frame 194	123										NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	39						ATTTCTCCAATGTGCCACATA	0.368													35	27					0	0	1	0	0	C	3356865	T	C	3356865	3	2	249	1	0	0	0	0	1	0	0	0	2113	1464	51	3	3301	3	C20orf194	20	3356865	Missense_Mutation	SNP	T	TCGA-HT-7604-01A-11D-2086-08		3356865	59668655	53	27066											
PCK1	5105	broad.mit.edu	37	20	56139236	56139236	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr20:56139236G>A	ENST00000319441.4	+	7	1137	c.973G>A	c.(973-975)Gcc>Acc	p.A325T	PCK1_ENST00000543666.1_Missense_Mutation_p.A8T|PCK1_ENST00000535860.1_Missense_Mutation_p.A193T	NM_002591.3	NP_002582.3	P35558	PCKGC_HUMAN	phosphoenolpyruvate carboxykinase 1 (soluble)	325					gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	carboxylic acid binding|GTP binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity	p.A325T(1)		endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			TCATTTAAGGGCCATCAACCC	0.448													9	40					0	0	1	0	0	A	56139236	G	A	56139236	3	1	249	1	0	0	0	0	1	0	0	0	11628	1203	42	2	995	2	PCK1	20	56139236	Missense_Mutation	SNP	G	TCGA-HT-7604-01A-11D-2086-08	52782371	56139236	6886284	54	27067											
CDH4	1002	broad.mit.edu	37	20	60498709	60498709	+	Silent	SNP	G	G	T			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr20:60498709G>T	ENST00000360469.5	+	10	1663	c.1575G>T	c.(1573-1575)gtG>gtT	p.V525V	CDH4_ENST00000543233.1_Silent_p.V451V	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	525	Cadherin 4.				adherens junction organization|cell junction assembly		calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			CCGGCACCGTGCTGACCACGT	0.622													3	51					1	1	1	1	0	T	60498709	G	T	60498709	2	4	249	1	0	0	0	0	0	0	0	1	3134	1306	46	5		5	CDH4	20	60498709	Silent	SNP	G	TCGA-HT-7604-01A-11D-2086-08	4359473	60498709	2526811	55	27068											
ATRX	546	broad.mit.edu	37	X	76937745	76937745	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chrX:76937745delT	ENST00000373344.5	-	9	3217	c.3003delA	c.(3001-3003)aaafs	p.K1001fs	ATRX_ENST00000395603.3_Frame_Shift_Del_p.K963fs|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1001					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)	TTTTAATTACTTTTTTCTTAA	0.338			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						52	8	---	---	---	---						-	76937745	T	-	76937745	7	5	249	1	0	1	0	1	0	0	0	0	1206	1606	56	0	4583	0	ATRX	23	76937745	Frame_Shift_Del	DEL	T	TCGA-HT-7604-01A-11D-2086-08		76937745	78332815	56	27069											
XIAP	331	broad.mit.edu	37	X	123034427	123034427	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chrX:123034427A>G	ENST00000371199.3	+	6	1483	c.1184A>G	c.(1183-1185)gAa>gGa	p.E395G	XIAP_ENST00000355640.3_Missense_Mutation_p.E395G|XIAP_ENST00000468691.1_3'UTR|XIAP_ENST00000434753.3_Missense_Mutation_p.E395G	NM_001167.3	NP_001158.2	P98170	XIAP_HUMAN	X-linked inhibitor of apoptosis	395					anti-apoptosis|apoptosis|induction of apoptosis by intracellular signals|response to DNA damage stimulus	cytosol	caspase inhibitor activity|ligase activity|protein binding|zinc ion binding			breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)	25						ATAATGGAGGAAAAAATTCAG	0.368									X-linked Lymphoproliferative syndrome				31	5					0	0	1	0	0	G	123034427	A	G	123034427	3	3	249	1	0	0	0	0	1	0	0	0	17488	246	9	3	1202	3	XIAP	23	123034427	Missense_Mutation	SNP	A	TCGA-HT-7604-01A-11D-2086-08	46096682	123034427	32236133	57	27070											
CLIC4	25932	broad.mit.edu	37	1	25140630	25140630	+	Silent	SNP	A	A	G			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr1:25140630A>G	ENST00000374379.4	+	3	425	c.228A>G	c.(226-228)ccA>ccG	p.P76P	CLIC4_ENST00000497755.1_3'UTR	NM_013943.2	NP_039234.1	Q9Y696	CLIC4_HUMAN	chloride intracellular channel 4	76	Required for insertion into the membrane (Probable).				cellular response to calcium ion|establishment or maintenance of apical/basal cell polarity|keratinocyte differentiation|negative regulation of cell migration|regulation of cytoskeleton organization	actin cytoskeleton|apical part of cell|cell surface|cell-cell junction|centrosome|chloride channel complex|cytoplasmic vesicle membrane|cytosol|microvillus|midbody|mitochondrion|nuclear matrix|perinuclear region of cytoplasm|soluble fraction	voltage-gated chloride channel activity			large_intestine(3)|lung(2)|skin(1)	6		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000778)|all_lung(284;0.00106)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0479)|OV - Ovarian serous cystadenocarcinoma(117;1.06e-24)|Colorectal(126;1.03e-07)|COAD - Colon adenocarcinoma(152;4.93e-06)|STAD - Stomach adenocarcinoma(196;0.000418)|GBM - Glioblastoma multiforme(114;0.000451)|BRCA - Breast invasive adenocarcinoma(304;0.00215)|KIRC - Kidney renal clear cell carcinoma(1967;0.00216)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.18)		CCCACCCACCATTTATAACTT	0.398													12	69					0	0	1	0	0	G	25140630	A	G	25140630	2	3	250	1	0	0	0	0	0	0	0	1	3551	204	8	3		3	CLIC4	1	25140630	Silent	SNP	A	TCGA-HT-7605-01A-11D-2086-08		25140630	224109991	1	27071											
PTPRU	10076	broad.mit.edu	37	1	29585123	29585123	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr1:29585123C>A	ENST00000356870.3	+	3	422	c.312C>A	c.(310-312)taC>taA	p.Y104*	PTPRU_ENST00000345512.3_Nonsense_Mutation_p.Y104*|PTPRU_ENST00000428026.2_Nonsense_Mutation_p.Y104*|PTPRU_ENST00000323874.8_Nonsense_Mutation_p.Y104*|PTPRU_ENST00000460170.2_Nonsense_Mutation_p.Y104*|PTPRU_ENST00000373779.3_Nonsense_Mutation_p.Y104*	NM_133177.3	NP_573438.3	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	104	MAM.				canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		AGTTCAGCTACTTCCTGTACA	0.602													19	190					1.9806e-07	2.25858e-07	1	1	0	A	29585123	C	A	29585123	4	1	250	1	0	0	0	0	0	1	0	0	12865	576	20	4	322	4	PTPRU	1	29585123	Nonsense_Mutation	SNP	C	TCGA-HT-7605-01A-11D-2086-08	4444493	29585123	219665498	2	27072											
SH3BP5L	80851	broad.mit.edu	37	1	249107313	249107313	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr1:249107313G>A	ENST00000366472.5	-	6	1815	c.586C>T	c.(586-588)Cga>Tga	p.R196*	SH3BP5L_ENST00000475978.1_5'UTR|SH3BP5L_ENST00000411742.2_Nonsense_Mutation_p.R164*	NM_030645.1	NP_085148.1	Q7L8J4	3BP5L_HUMAN	SH3-binding domain protein 5-like	196										endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			CGAGTCACTCGCTGGTGCTCC	0.632													3	24					0	0	1	0	0	A	249107313	G	A	249107313	4	1	250	1	0	0	0	0	0	1	0	0	14302	1095	38	1	603	1	SH3BP5L	1	249107313	Nonsense_Mutation	SNP	G	TCGA-HT-7605-01A-11D-2086-08	219522190	249107313	143308	3	27073											
GEMIN6	79833	broad.mit.edu	37	2	39008705	39008705	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr2:39008705G>A	ENST00000281950.3	+	3	291	c.175G>A	c.(175-177)Gga>Aga	p.G59R	GEMIN6_ENST00000409011.1_3'UTR|GEMIN6_ENST00000409566.1_3'UTR	NM_024775.9	NP_079051.9	Q8WXD5	GEMI6_HUMAN	gem (nuclear organelle) associated protein 6						ncRNA metabolic process|spliceosomal snRNP assembly|spliceosome assembly	Cajal body|cytosol|spliceosomal complex	protein binding			kidney(1)|large_intestine(3)|pancreas(1)	5		all_hematologic(82;0.21)				GTCTGTGACCGGAATTATGGG	0.443													35	100					0	0	1	0	0	A	39008705	G	A	39008705	3	1	250	1	0	0	0	0	1	0	0	0	6374	1117	39	1	181	1	GEMIN6	2	39008705	Missense_Mutation	SNP	G	TCGA-HT-7605-01A-11D-2086-08		39008705	204190668	4	27074											
ACTG2	72	broad.mit.edu	37	2	74146597	74146597	+	Silent	SNP	C	C	T			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr2:74146597C>T	ENST00000409624.1	+	10	1669	c.1026C>T	c.(1024-1026)atC>atT	p.I342I	ACTG2_ENST00000409731.3_Silent_p.I299I|ACTG2_ENST00000345517.3_Silent_p.I342I			P63267	ACTH_HUMAN	actin, gamma 2, smooth muscle, enteric	342					muscle contraction	cytoskeleton|cytosol	ATP binding			large_intestine(3)|lung(14)|skin(1)	18						CAGTCTGGATCGGGGGCTCTA	0.527													10	85					0	0	1	0	0	T	74146597	C	T	74146597	2	4	250	1	0	0	0	0	0	0	0	1	197	874	31	1		1	ACTG2	2	74146597	Silent	SNP	C	TCGA-HT-7605-01A-11D-2086-08	35137892	74146597	169052776	5	27075											
KDM3A	55818	broad.mit.edu	37	2	86697513	86697513	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr2:86697513G>A	ENST00000409556.1	+	12	2071	c.1706G>A	c.(1705-1707)cGc>cAc	p.R569H	KDM3A_ENST00000542128.1_Missense_Mutation_p.R517H|KDM3A_ENST00000312912.5_Missense_Mutation_p.R569H|KDM3A_ENST00000409064.1_Missense_Mutation_p.R569H|KDM3A_ENST00000485171.1_3'UTR			Q9Y4C1	KDM3A_HUMAN	lysine (K)-specific demethylase 3A	569					androgen receptor signaling pathway|cell differentiation|formaldehyde biosynthetic process|histone H3-K9 demethylation|hormone-mediated signaling pathway|positive regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleus	androgen receptor binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(3)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(3)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	47						GTGTTTTGCCGCTTCTTTCAC	0.453													4	99					0	0	1	0	0	A	86697513	G	A	86697513	3	1	250	1	0	0	0	0	1	0	0	0	8170	1087	38	1	1744	1	KDM3A	2	86697513	Missense_Mutation	SNP	G	TCGA-HT-7605-01A-11D-2086-08	12550916	86697513	156501860	6	27076											
UXS1	80146	broad.mit.edu	37	2	106746145	106746145	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr2:106746145T>C	ENST00000283148.7	-	7	659	c.562A>G	c.(562-564)Aca>Gca	p.T188A	UXS1_ENST00000540130.1_Missense_Mutation_p.T126A|UXS1_ENST00000409032.1_Missense_Mutation_p.T15A|UXS1_ENST00000428048.2_Intron|UXS1_ENST00000409501.3_Missense_Mutation_p.T183A	NM_001253875.1|NM_025076.4	NP_001240804.1|NP_079352.2	Q8NBZ7	UXS1_HUMAN	UDP-glucuronate decarboxylase 1	183					cellular metabolic process	Golgi cisterna membrane|integral to membrane	coenzyme binding|UDP-glucuronate decarboxylase activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)	17						ATGTTTAATGTCCCAATCGTA	0.378													12	20					0	0	1	0	0	C	106746145	T	C	106746145	3	2	250	1	0	0	0	0	1	0	0	0	17169	1667	58	3	751	3	UXS1	2	106746145	Missense_Mutation	SNP	T	TCGA-HT-7605-01A-11D-2086-08	20048632	106746145	136453228	7	27077											
NCKAP5	344148	broad.mit.edu	37	2	133721292	133721292	+	Splice_Site	SNP	C	C	T			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr2:133721292C>T	ENST00000409261.1	-	8	953		c.e8+1		NCKAP5_ENST00000405974.3_Splice_Site|NCKAP5_ENST00000409213.1_Splice_Site|NCKAP5_ENST00000317721.6_Splice_Site	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5								protein binding	p.?(2)		NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						TCATTTCTTACCTCTAGAGCT	0.368													14	46					0	0	1	0	0	T	133721292	C	T	133721292	5	4	250	1	0	0	0	0	0	0	1	0	10270	521	18	2	5201	2	NCKAP5	2	133721292	Splice_Site	SNP	C	TCGA-HT-7605-01A-11D-2086-08	26975147	133721292	109478081	8	27078											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	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	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								29	58					0	0	1	0	0	T	209113112	C	T	209113112	3	4	250	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HT-7605-01A-11D-2086-08	75391820	209113112	34086261	9	27079											
MARCH4	57574	broad.mit.edu	37	2	217234779	217234779	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr2:217234779delG	ENST00000273067.4	-	1	1971	c.205delC	c.(205-207)cagfs	p.Q69fs		NM_020814.2	NP_065865.1	Q9P2E8	MARH4_HUMAN	membrane-associated ring finger (C3HC4) 4, E3 ubiquitin protein ligase	69	Pro-rich.					Golgi membrane|Golgi stack|integral to membrane|trans-Golgi network	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(1)	20		Renal(323;0.0854)		Epithelial(149;2.19e-05)|all cancers(144;0.00121)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0125)		CCGGGGGGCTGGGGGTCGCCG	0.701													2	4	---	---	---	---						-	217234779	G	-	217234779	7	5	250	1	0	1	0	1	0	0	0	0	9353	1357	47	0	1043	0	MARCH4	2	217234779	Frame_Shift_Del	DEL	G	TCGA-HT-7605-01A-11D-2086-08	8121667	217234779	25964594	10	27080											
PBRM1	55193	broad.mit.edu	37	3	52598217	52598217	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr3:52598217delG	ENST00000356770.4	-	22	3630	c.3628delC	c.(3628-3630)ctcfs	p.L1210fs	SMIM4_ENST00000476842.1_Intron|PBRM1_ENST00000337303.4_Frame_Shift_Del_p.L1242fs|PBRM1_ENST00000394830.3_Frame_Shift_Del_p.L1217fs|PBRM1_ENST00000409057.1_Frame_Shift_Del_p.L1242fs|PBRM1_ENST00000410007.1_Frame_Shift_Del_p.L1217fs|PBRM1_ENST00000409114.3_Frame_Shift_Del_p.L1257fs|PBRM1_ENST00000296302.7_Frame_Shift_Del_p.L1242fs|PBRM1_ENST00000409767.1_Frame_Shift_Del_p.L1257fs			Q86U86	PB1_HUMAN	polybromo 1	1242	BAH 2.		Missing (found in a case of clear cell renal carcinoma; somatic mutation).		chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		CTGCAGGAGAGGAAGTCCTTG	0.383			"Mis, N, F, S, D, O"		"clear cell renal carcinoma, breast"								7	98	---	---	---	---						-	52598217	G	-	52598217	7	5	250	1	0	1	0	1	0	0	0	0	11538	1000	35	0	1208	0	PBRM1	3	52598217	Frame_Shift_Del	DEL	G	TCGA-HT-7605-01A-11D-2086-08		52598217	145424213	11	27081											
ZBTB20	26137	broad.mit.edu	37	3	114069165	114069166	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr3:114069165_114069166delAA	ENST00000462705.1	-	11	2361_2362	c.1540_1541delTT	c.(1540-1542)ttcfs	p.F514fs	ZBTB20_ENST00000471418.1_Frame_Shift_Del_p.F514fs|ZBTB20_ENST00000393785.2_Frame_Shift_Del_p.F514fs|ZBTB20_ENST00000464560.1_Frame_Shift_Del_p.F514fs|ZBTB20_ENST00000474710.1_Frame_Shift_Del_p.F587fs|ZBTB20_ENST00000481632.1_Frame_Shift_Del_p.F514fs|ZBTB20_ENST00000357258.3_Frame_Shift_Del_p.F514fs	NM_001164343.1	NP_001157815.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	587					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		TTTGGCGGTGAAAGTCTTGTTG	0.599													16	261	---	---	---	---						-	114069166	AA	-	114069165	7	5	250	1	0	1	0	1	0	0	0	0	17588	246	9	0	473	0	ZBTB20	3	114069165	Frame_Shift_Del	DEL	AA	TCGA-HT-7605-01A-11D-2086-08	61470948	114069165	83953265	12	27082											
FBXO40	51725	broad.mit.edu	37	3	121340407	121340407	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr3:121340407C>G	ENST00000338040.4	+	3	545	c.131C>G	c.(130-132)gCc>gGc	p.A44G		NM_016298.3	NP_057382.2	Q9UH90	FBX40_HUMAN	F-box protein 40	44					muscle cell differentiation	centrosome|nucleus	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	46				GBM - Glioblastoma multiforme(114;0.189)		CTCTGTGGTGCCACCTTCCAC	0.572													9	109					0	0	1	0	0	G	121340407	C	G	121340407	3	3	250	1	0	0	0	0	1	0	0	0	5782	739	26	5	137	5	FBXO40	3	121340407	Missense_Mutation	SNP	C	TCGA-HT-7605-01A-11D-2086-08	7271242	121340407	76682023	13	27083											
PIK3CA	5290	broad.mit.edu	37	3	178936092	178936092	+	Missense_Mutation	SNP	A	A	G	rs121913274		TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr3:178936092A>G	ENST00000263967.3	+	10	1791	c.1634A>G	c.(1633-1635)gAg>gGg	p.E545G		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	545	PI3K helical.		E -> A (in cancer).|E -> G (in KERSEB).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E545A(96)|p.E545G(78)|p.E545V(4)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			GAAATCACTGAGCAGGAGAAA	0.353	E545A(AGS_STOMACH)|E545G(KCL22_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			4	49					0	0	1	0	0	G	178936092	A	G	178936092	3	3	250	1	0	0	0	0	1	0	0	0	11961	304	11	3	1668	3	PIK3CA	3	178936092	Missense_Mutation	SNP	A	TCGA-HT-7605-01A-11D-2086-08	57595685	178936092	19086338	14	27084											
KIAA0226	9711	broad.mit.edu	37	3	197408183	197408183	+	Silent	SNP	G	G	A			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr3:197408183G>A	ENST00000273582.5	-	17	2657	c.2112C>T	c.(2110-2112)tgC>tgT	p.C704C	KIAA0226_ENST00000296343.5_Silent_p.C749C|KIAA0226_ENST00000389665.5_Silent_p.C774C	NM_001145642.2	NP_001139114.1	Q92622	RUBIC_HUMAN	KIAA0226	749					autophagy|endocytosis|negative regulation of autophagy|negative regulation of endocytosis	early endosome|late endosome|lysosome	protein binding			NS(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)		TCTCGTGGCAGCACTGGCAGA	0.527													4	149					0	0	1	0	0	A	197408183	G	A	197408183	2	1	250	1	0	0	0	0	0	0	0	1	8204	963	34	2		2	KIAA0226	3	197408183	Silent	SNP	G	TCGA-HT-7605-01A-11D-2086-08	18472091	197408183	614247	15	27085											
FIP1L1	81608	broad.mit.edu	37	4	54324903	54324904	+	Frame_Shift_Del	DEL	AT	AT	-			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr4:54324903_54324904delAT	ENST00000337488.6	+	17	1777_1778	c.1583_1584delAT	c.(1582-1584)catfs	p.H528fs	FIP1L1_ENST00000306932.6_Frame_Shift_Del_p.H454fs|FIP1L1_ENST00000358575.5_Frame_Shift_Del_p.H522fs|FIP1L1_ENST00000507166.1_Intron	NM_030917.3	NP_112179.2	Q6UN15	FIP1_HUMAN	factor interacting with PAPOLA and CPSF1	528	Arg-rich.|Glu-rich.|Sufficient for interaction with CPSF1 and CSTF3.				mRNA processing	nucleus	RNA binding			large_intestine(3)|liver(1)|ovary(1)|skin(1)	6			GBM - Glioblastoma multiforme(3;3.31e-36)|LUSC - Lung squamous cell carcinoma(32;0.0134)			GAAGAACGACATAGAGAAAGAC	0.381			T	PDGFRA	idiopathic hypereosinophilic syndrome								11	41	---	---	---	---						-	54324904	AT	-	54324903	7	5	250	1	0	1	0	1	0	0	0	0	5929	217	8	0	1680	0	FIP1L1	4	54324903	Frame_Shift_Del	DEL	AT	TCGA-HT-7605-01A-11D-2086-08		54324903	136829373	16	27086											
AGPAT9	84803	broad.mit.edu	37	4	84509367	84509367	+	Frame_Shift_Del	DEL	A	A	-	rs140308062	byFrequency	TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr4:84509367delA	ENST00000395226.2	+	6	777	c.559delA	c.(559-561)aaafs	p.K187fs	AGPAT9_ENST00000264409.4_Frame_Shift_Del_p.K187fs	NM_001256421.1	NP_001243350.1	Q53EU6	GPAT3_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 9	187					phospholipid biosynthetic process|regulation of TOR signaling cascade|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	glycerol-3-phosphate O-acyltransferase activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(3)	13		Hepatocellular(203;0.114)				CTTCAGCCTCAAAAACTGGCT	0.413													7	155	---	---	---	---						-	84509367	A	-	84509367	7	5	250	1	0	1	0	1	0	0	0	0	389	131	5	0	577	0	AGPAT9	4	84509367	Frame_Shift_Del	DEL	A	TCGA-HT-7605-01A-11D-2086-08	30184464	84509367	106644909	17	27087											
KIAA0922	23240	broad.mit.edu	37	4	154542876	154542876	+	Missense_Mutation	SNP	T	T	A			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr4:154542876T>A	ENST00000409959.3	+	28	3783	c.3734T>A	c.(3733-3735)tTt>tAt	p.F1245Y	KIAA0922_ENST00000440693.1_Missense_Mutation_p.F1161Y|KIAA0922_ENST00000409663.3_Missense_Mutation_p.F1244Y	NM_001131007.1	NP_001124479.1	A2VDJ0	T131L_HUMAN	KIAA0922	1244						integral to membrane				breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	63	all_hematologic(180;0.093)	Renal(120;0.118)				TGCAGTGACTTTGAGAGGTCT	0.433													8	54					0	0	1	0	0	A	154542876	T	A	154542876	3	1	250	1	0	0	0	0	1	0	0	0	8243	1841	64	5	3844	5	KIAA0922	4	154542876	Missense_Mutation	SNP	T	TCGA-HT-7605-01A-11D-2086-08	70033509	154542876	36611400	18	27088											
DCHS2	54798	broad.mit.edu	37	4	155163900	155163900	+	Silent	SNP	T	T	C			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr4:155163900T>C	ENST00000357232.4	-	22	5600	c.5601A>G	c.(5599-5601)aaA>aaG	p.K1867K		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2		Cadherin 16.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		TGGGCATCCCTTTATCTGTGG	0.378													3	64					0	0	1	0	0	C	155163900	T	C	155163900	2	2	250	1	0	0	0	0	0	0	0	1	4311	1606	56	3		3	DCHS2	4	155163900	Silent	SNP	T	TCGA-HT-7605-01A-11D-2086-08	621024	155163900	35990376	19	27089											
C6orf165	154313	broad.mit.edu	37	6	88144700	88144700	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr6:88144700delA	ENST00000507897.1	+	11	1506	c.1423delA	c.(1423-1425)aaafs	p.K476fs	C6ORF165_ENST00000369562.4_Frame_Shift_Del_p.K476fs			Q8IYR0	CF165_HUMAN	chromosome 6 open reading frame 165	476										NS(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0419)		AGAAAAGGCCAAAAAAAATAC	0.269													9	115	---	---	---	---						-	88144700	A	-	88144700	7	5	250	1	0	1	0	1	0	0	0	0	2355	131	5	0	1461	0	C6orf165	6	88144700	Frame_Shift_Del	DEL	A	TCGA-HT-7605-01A-11D-2086-08		88144700	82970367	20	27090											
RALA	5898	broad.mit.edu	37	7	39726381	39726381	+	Splice_Site	SNP	G	G	T			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr7:39726381G>T	ENST00000005257.2	+	2	494		c.e2+1		RALA_ENST00000468201.1_Intron	NM_005402.3	NP_005393.2	P11233	RALA_HUMAN	v-ral simian leukemia viral oncogene homolog A (ras related)						actin cytoskeleton reorganization|cell cycle|chemotaxis|cytokinesis|exocytosis|interspecies interaction between organisms|membrane raft localization|nerve growth factor receptor signaling pathway|positive regulation of filopodium assembly|Ras protein signal transduction|regulation of exocytosis	cell surface|cleavage furrow|cytosol|midbody|plasma membrane	Edg-2 lysophosphatidic acid receptor binding|GTP binding|GTPase activity			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(9)|skin(3)	16						GTACGATGAGGTAAGTGCTAA	0.418													4	45					0.00024832	0.000264603	1	1	0	T	39726381	G	T	39726381	5	4	250	1	0	0	0	0	0	0	1	0	13062	1275	44	5	117	5	RALA	7	39726381	Splice_Site	SNP	G	TCGA-HT-7605-01A-11D-2086-08		39726381	119412282	21	27091											
MUC17	140453	broad.mit.edu	37	7	100685718	100685718	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr7:100685718C>T	ENST00000306151.4	+	3	11085	c.11021C>T	c.(11020-11022)tCa>tTa	p.S3674L		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3674	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CAAGTCAGTTCATCTCCTGTG	0.522													5	253					0	0	1	0	0	T	100685718	C	T	100685718	3	4	250	1	0	0	0	0	1	0	0	0	10022	838	29	2	11031	2	MUC17	7	100685718	Missense_Mutation	SNP	C	TCGA-HT-7605-01A-11D-2086-08	60959337	100685718	58452945	22	27092											
GIMAP5	55340	broad.mit.edu	37	7	150439641	150439641	+	Silent	SNP	T	T	C			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr7:150439641T>C	ENST00000358647.3	+	3	781	c.414T>C	c.(412-414)ttT>ttC	p.F138F	GIMAP5_ENST00000479556.1_3'UTR	NM_018384.4	NP_060854.2			GTPase, IMAP family member 5											central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|urinary_tract(2)	19			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AAGAGGTCTTTGGGACAGGGG	0.582													15	114					0	0	1	0	0	C	150439641	T	C	150439641	2	2	250	1	0	0	0	0	0	0	0	1	6424	1809	63	3		3	GIMAP5	7	150439641	Silent	SNP	T	TCGA-HT-7605-01A-11D-2086-08	49753923	150439641	8699022	23	27093											
PIWIL2	55124	broad.mit.edu	37	8	22146091	22146091	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr8:22146091G>A	ENST00000356766.6	+	8	1046	c.898G>A	c.(898-900)Gct>Act	p.A300T	PIWIL2_ENST00000521356.1_Missense_Mutation_p.A300T|PIWIL2_ENST00000454009.2_Missense_Mutation_p.A300T	NM_018068.3	NP_060538.2	Q8TC59	PIWL2_HUMAN	piwi-like RNA-mediated gene silencing 2	300					DNA methylation involved in gamete generation|gene silencing by RNA|germ-line stem cell maintenance|multicellular organismal development|oogenesis|piRNA metabolic process|positive regulation of translation|RNA 5'-end processing|spermatogenesis	chromatoid body|pi-body	piRNA binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(14)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	46				Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)		AACAGACAGTGCTGAAATCAG	0.383													4	69					0	0	1	0	0	A	22146091	G	A	22146091	3	1	250	1	0	0	0	0	1	0	0	0	12006	1319	46	2	924	2	PIWIL2	8	22146091	Missense_Mutation	SNP	G	TCGA-HT-7605-01A-11D-2086-08		22146091	124217931	24	27094											
KCNU1	157855	broad.mit.edu	37	8	36642081	36642081	+	Silent	SNP	T	T	C			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr8:36642081T>C	ENST00000399881.3	+	1	190	c.153T>C	c.(151-153)tcT>tcC	p.S51S		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	51						voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		TCTGGAGATCTGTTAAAAAAT	0.438													4	33					0	0	1	0	0	C	36642081	T	C	36642081	2	2	250	1	0	0	0	0	0	0	0	1	8137	1567	55	3		3	KCNU1	8	36642081	Silent	SNP	T	TCGA-HT-7605-01A-11D-2086-08	14495990	36642081	109721941	25	27095											
PXDNL	137902	broad.mit.edu	37	8	52321594	52321594	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr8:52321594G>A	ENST00000356297.4	-	17	2690	c.2590C>T	c.(2590-2592)Cgc>Tgc	p.R864C	PXDNL_ENST00000543296.1_Missense_Mutation_p.R864C	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	864					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	p.R864C(1)|p.R63C(1)		NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				GGGCTGGAGCGCGCGAAGAGC	0.662													3	51					0	0	1	0	0	A	52321594	G	A	52321594	3	1	250	1	0	0	0	0	1	0	0	0	12900	1087	38	1	1829	1	PXDNL	8	52321594	Missense_Mutation	SNP	G	TCGA-HT-7605-01A-11D-2086-08	15679513	52321594	94042428	26	27096											
CHD7	55636	broad.mit.edu	37	8	61735226	61735226	+	Missense_Mutation	SNP	T	T	G			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr8:61735226T>G	ENST00000423902.2	+	12	3601	c.3122T>G	c.(3121-3123)tTg>tGg	p.L1041W	CHD7_ENST00000525508.1_Missense_Mutation_p.L1041W|CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	1041	Helicase ATP-binding.				central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			TGGACAGAGTTGAACGTGGTT	0.433													6	201					0	0	1	0	0	G	61735226	T	G	61735226	3	3	250	1	0	0	0	0	1	0	0	0	3352	1821	63	5	3164	5	CHD7	8	61735226	Missense_Mutation	SNP	T	TCGA-HT-7605-01A-11D-2086-08	9413632	61735226	84628796	27	27097											
ASAP1	50807	broad.mit.edu	37	8	131370312	131370312	+	Missense_Mutation	SNP	A	A	C			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr8:131370312A>C	ENST00000357668.1	-	2	164	c.137T>G	c.(136-138)tTc>tGc	p.F46C	ASAP1_ENST00000518721.1_Missense_Mutation_p.F46C			Q9ULH1	ASAP1_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	46					cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						CCGCGTGGTGAAGCTGGACGT	0.677													7	27					0	0	1	0	0	C	131370312	A	C	131370312	3	2	250	1	0	0	0	0	1	0	0	0	1009	246	9	5	3364	5	ASAP1	8	131370312	Missense_Mutation	SNP	A	TCGA-HT-7605-01A-11D-2086-08	69635086	131370312	14993710	28	27098											
NOL6	65083	broad.mit.edu	37	9	33467861	33467861	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr9:33467861C>T	ENST00000379471.2	-	12	1517	c.1430G>A	c.(1429-1431)cGt>cAt	p.R477H	NOL6_ENST00000455041.2_Missense_Mutation_p.R425H|NOL6_ENST00000464829.1_Intron			Q9H6R4	NOL6_HUMAN	nucleolar protein 6 (RNA-associated)	477					rRNA processing	condensed nuclear chromosome|nucleolus	RNA binding			endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2)	27			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)		ACTCAGTGGACGGAGACTGGA	0.602													4	47					0	0	1	0	0	T	33467861	C	T	33467861	3	4	250	1	0	0	0	0	1	0	0	0	10572	536	19	1	2070	1	NOL6	9	33467861	Missense_Mutation	SNP	C	TCGA-HT-7605-01A-11D-2086-08		33467861	107745570	29	27099											
CORO2A	7464	broad.mit.edu	37	9	100897226	100897226	+	Missense_Mutation	SNP	C	C	A			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr9:100897226C>A	ENST00000343933.5	-	4	587	c.330G>T	c.(328-330)tgG>tgT	p.W110C	CORO2A_ENST00000375077.4_Missense_Mutation_p.W110C	NM_003389.3	NP_003380.3	Q92828	COR2A_HUMAN	coronin, actin binding protein, 2A	110					actin cytoskeleton organization|intracellular signal transduction	actin cytoskeleton|transcriptional repressor complex	actin filament binding			endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|skin(4)|urinary_tract(1)	26		Acute lymphoblastic leukemia(62;0.0559)				TGGGGATGCTCCAGATCTTAA	0.632													22	52					7.88262e-20	9.14947e-20	1	1	0	A	100897226	C	A	100897226	3	1	250	1	0	0	0	0	1	0	0	0	3779	856	30	5	1283	5	CORO2A	9	100897226	Missense_Mutation	SNP	C	TCGA-HT-7605-01A-11D-2086-08	67429365	100897226	40316205	30	27100											
LAMC3	10319	broad.mit.edu	37	9	133917071	133917071	+	Missense_Mutation	SNP	G	G	T	rs143849259		TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr9:133917071G>T	ENST00000361069.4	+	7	1464	c.1331G>T	c.(1330-1332)cGc>cTc	p.R444L	LAMC3_ENST00000480883.1_3'UTR	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	444	Laminin EGF-like 4.				cell adhesion	basement membrane|membrane	structural molecule activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		TGTGACCCCCGCAGTGGGCGC	0.547													3	62					1	1	1	1	0	T	133917071	G	T	133917071	3	4	250	1	0	0	0	0	1	0	0	0	8655	1087	38	5	1357	5	LAMC3	9	133917071	Missense_Mutation	SNP	G	TCGA-HT-7605-01A-11D-2086-08	33019845	133917071	7296360	31	27101											
POLL	27343	broad.mit.edu	37	10	103343337	103343337	+	Silent	SNP	G	G	A	rs148400497	byFrequency	TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr10:103343337G>A	ENST00000370162.3	-	6	1487	c.993C>T	c.(991-993)agC>agT	p.S331S	POLL_ENST00000370158.3_Silent_p.S56S|POLL_ENST00000436284.2_3'UTR|DPCD_ENST00000416979.2_Intron|POLL_ENST00000370172.1_Silent_p.S243S|POLL_ENST00000339310.3_Silent_p.S54S|POLL_ENST00000299206.4_Silent_p.S331S|DPCD_ENST00000470165.1_Intron|POLL_ENST00000456836.2_Silent_p.S68S|POLL_ENST00000370169.1_Silent_p.S331S	NM_001174084.1|NM_001174085.1|NM_013274.3	NP_001167555.1|NP_001167556.1|NP_037406.1	Q9UGP5	DPOLL_HUMAN	polymerase (DNA directed), lambda	331					DNA replication|nucleotide-excision repair|somatic hypermutation of immunoglobulin genes	nucleus	DNA binding|DNA-directed DNA polymerase activity|lyase activity|metal ion binding			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(2)	19		Colorectal(252;0.234)		Epithelial(162;1.55e-08)|all cancers(201;6.64e-07)		AGACAGGCACGCTCTCACTGA	0.562								DNA polymerases (catalytic subunits)					6	78					0	0	1	0	0	A	103343337	G	A	103343337	2	1	250	1	0	0	0	0	0	0	0	1	12253	1078	38	1		1	POLL	10	103343337	Silent	SNP	G	TCGA-HT-7605-01A-11D-2086-08		103343337	32191410	32	27102											
RIC3	79608	broad.mit.edu	37	11	8148216	8148216	+	Missense_Mutation	SNP	C	C	A			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr11:8148216C>A	ENST00000396677.2	-	2	173	c.174G>T	c.(172-174)gaG>gaT	p.E58D	RIC3_ENST00000309737.6_Missense_Mutation_p.E220D|RIC3_ENST00000335425.7_Intron|RIC3_ENST00000425599.2_Intron|RIC3_ENST00000343202.4_Missense_Mutation_p.E219D|RIC3_ENST00000530060.1_5'UTR|RIC3_ENST00000539720.1_Missense_Mutation_p.E171D			Q7Z5B4	RIC3_HUMAN	RIC3 acetylcholine receptor chaperone	220						endoplasmic reticulum membrane|Golgi membrane|integral to membrane				breast(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)	17				Epithelial(150;2.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.204)		CTTCCCAGTCCTCCATGTAAG	0.403													3	65					1	1	1	1	0	A	8148216	C	A	8148216	3	1	250	1	0	0	0	0	1	0	0	0	13404	680	24	4	457	4	RIC3	11	8148216	Missense_Mutation	SNP	C	TCGA-HT-7605-01A-11D-2086-08		8148216	126858300	33	27103											
FAT3	120114	broad.mit.edu	37	11	92523169	92523169	+	Missense_Mutation	SNP	G	G	A	rs141835444	by1000genomes	TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr11:92523169G>A	ENST00000298047.6	+	7	4413	c.4396G>A	c.(4396-4398)Gat>Aat	p.D1466N	FAT3_ENST00000409404.2_Missense_Mutation_p.D1466N|FAT3_ENST00000525166.1_Missense_Mutation_p.D1316N			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1466	Cadherin 14.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GCCGAATTACGATGTGACAAT	0.408										TCGA Ovarian(4;0.039)			4	148					0	0	1	0	0	A	92523169	G	A	92523169	3	1	250	1	0	0	0	0	1	0	0	0	5724	1058	37	1	4422	1	FAT3	11	92523169	Missense_Mutation	SNP	G	TCGA-HT-7605-01A-11D-2086-08	84374953	92523169	42483347	34	27104											
VWA5A	4013	broad.mit.edu	37	11	123989697	123989697	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr11:123989697G>A	ENST00000456829.2	+	7	912	c.661G>A	c.(661-663)Gga>Aga	p.G221R	VWA5A_ENST00000392744.4_Missense_Mutation_p.G237R|VWA5A_ENST00000392748.1_Missense_Mutation_p.G221R|VWA5A_ENST00000361352.5_Missense_Mutation_p.G221R|VWA5A_ENST00000360334.4_Missense_Mutation_p.G221R|VWA5A_ENST00000449321.1_Missense_Mutation_p.G221R	NM_001130142.1	NP_001123614.1	O00534	VMA5A_HUMAN	von Willebrand factor A domain containing 5A	221										autonomic_ganglia(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						CCTGGCTGCTGGACACAAGTT	0.522													3	52					0	0	1	0	0	A	123989697	G	A	123989697	3	1	250	1	0	0	0	0	1	0	0	0	17302	1349	47	2	679	2	VWA5A	11	123989697	Missense_Mutation	SNP	G	TCGA-HT-7605-01A-11D-2086-08	31466528	123989697	11016819	35	27105											
GPR162	27239	broad.mit.edu	37	12	6933475	6933475	+	Silent	SNP	C	C	T	rs146153056		TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr12:6933475C>T	ENST00000311268.3	+	2	1198	c.411C>T	c.(409-411)gcC>gcT	p.A137A	GPR162_ENST00000428545.2_Intron|GPR162_ENST00000541431.1_3'UTR|GPR162_ENST00000382315.3_Intron	NM_019858.1	NP_062832.1	Q16538	GP162_HUMAN	G protein-coupled receptor 162	137						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(1)	18						CACTGCATGCCGTCATGGGCA	0.617													28	51					0	0	1	0	0	T	6933475	C	T	6933475	2	4	250	1	0	0	0	0	0	0	0	1	6706	639	23	1		1	GPR162	12	6933475	Silent	SNP	C	TCGA-HT-7605-01A-11D-2086-08		6933475	126918420	36	27106											
ATN1	1822	broad.mit.edu	37	12	7048208	7048208	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr12:7048208G>A	ENST00000356654.4	+	7	3319	c.3082G>A	c.(3082-3084)Gca>Aca	p.A1028T	ATN1_ENST00000396684.2_Missense_Mutation_p.A1028T	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN	atrophin 1	1028					cell death|central nervous system development	cytoplasm|nucleus	protein domain specific binding	p.A1028S(1)		breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						GAGGCAGCACGCAGAAAGGGT	0.662													4	109					0	0	1	0	0	A	7048208	G	A	7048208	3	1	250	1	0	0	0	0	1	0	0	0	1110	1087	38	1	3104	1	ATN1	12	7048208	Missense_Mutation	SNP	G	TCGA-HT-7605-01A-11D-2086-08	114733	7048208	126803687	37	27107											
FREM2	341640	broad.mit.edu	37	13	39265629	39265629	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr13:39265629T>C	ENST00000280481.7	+	1	4364	c.4148T>C	c.(4147-4149)gTc>gCc	p.V1383A		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	1383					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		ATTCAGTATGTCCATTTGGGG	0.413													11	156					0	0	1	0	0	C	39265629	T	C	39265629	3	2	250	1	0	0	0	0	1	0	0	0	6080	1667	58	3	4150	3	FREM2	13	39265629	Missense_Mutation	SNP	T	TCGA-HT-7605-01A-11D-2086-08		39265629	75904249	38	27108											
TBC1D4	9882	broad.mit.edu	37	13	75861015	75861015	+	Silent	SNP	G	G	A			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr13:75861015G>A	ENST00000377636.3	-	21	4156	c.3810C>T	c.(3808-3810)ccC>ccT	p.P1270P	TBC1D4_ENST00000431480.2_Silent_p.P1262P|TBC1D4_ENST00000425511.1_Silent_p.P434P|TBC1D4_ENST00000377625.2_Silent_p.P1207P	NM_014832.2	NP_055647.2	O60343	TBCD4_HUMAN	TBC1 domain family, member 4	1270						cytoplasm	Rab GTPase activator activity	p.P1270P(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		GAGCATCCGCGGGCAGCAGCT	0.453													3	56					0	0	1	0	0	A	75861015	G	A	75861015	2	1	250	1	0	0	0	0	0	0	0	1	15682	1103	39	1		1	TBC1D4	13	75861015	Silent	SNP	G	TCGA-HT-7605-01A-11D-2086-08	36595386	75861015	39308863	39	27109											
RFX7	64864	broad.mit.edu	37	15	56387426	56387426	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr15:56387426G>A	ENST00000423270.1	-	9	2499	c.2500C>T	c.(2500-2502)Cag>Tag	p.Q834*	RFX7_ENST00000317318.6_Nonsense_Mutation_p.Q834*|RFX7_ENST00000559447.2_Nonsense_Mutation_p.Q737*|RFX7_ENST00000422057.1_Nonsense_Mutation_p.Q737*	NM_022841.5	NP_073752.5	Q2KHR2	RFX7_HUMAN	regulatory factor X, 7	737					regulation of transcription, DNA-dependent	nucleus	DNA binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						CTATGTAGCTGCTGGCTATAT	0.393													8	132					0	0	1	0	0	A	56387426	G	A	56387426	4	1	250	1	0	0	0	0	0	1	0	0	13320	1328	46	2	1886	2	RFX7	15	56387426	Nonsense_Mutation	SNP	G	TCGA-HT-7605-01A-11D-2086-08		56387426	46143966	40	27110											
EFTUD1	79631	broad.mit.edu	37	15	82554109	82554109	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr15:82554109T>C	ENST00000268206.7	-	2	179	c.11A>G	c.(10-12)aAc>aGc	p.N4S	EFTUD1_ENST00000359445.3_Missense_Mutation_p.N4S	NM_024580.5	NP_078856.4	Q7Z2Z2	ETUD1_HUMAN	elongation factor Tu GTP binding domain containing 1	4					mature ribosome assembly		GTP binding|GTPase activity|ribosome binding|translation elongation factor activity			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32						ATCCAAACTGTTGAGCACCAT	0.333													21	94					0	0	1	0	0	C	82554109	T	C	82554109	3	2	250	1	0	0	0	0	1	0	0	0	4986	1725	60	3	3427	3	EFTUD1	15	82554109	Missense_Mutation	SNP	T	TCGA-HT-7605-01A-11D-2086-08	26166683	82554109	19977283	41	27111											
ACSM2A	123876	broad.mit.edu	37	16	20471589	20471589	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr16:20471589G>T	ENST00000573854.1	+	2	267	c.153G>T	c.(151-153)ttG>ttT	p.L51F	ACSM2A_ENST00000424070.1_Missense_Mutation_p.L51F|ACSM2A_ENST00000219054.6_Missense_Mutation_p.L51F|ACSM2A_ENST00000575690.1_Missense_Mutation_p.L51F|ACSM2A_ENST00000396104.2_Missense_Mutation_p.L51F|ACSM2A_ENST00000417235.2_Intron|ACSM2A_ENST00000575558.1_Intron|ACSM2A_ENST00000536134.1_5'UTR	NM_001010845.2	NP_001010845	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A	51					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						GTGATGTGTTGGATCACTGGG	0.453													4	57					0.217242	0.224139	1	1	0	T	20471589	G	T	20471589	3	4	250	1	0	0	0	0	1	0	0	0	183	1339	47	5	155	5	ACSM2A	16	20471589	Missense_Mutation	SNP	G	TCGA-HT-7605-01A-11D-2086-08		20471589	69883164	42	27112											
ZNF764	92595	broad.mit.edu	37	16	30566916	30566916	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr16:30566916G>T	ENST00000395091.2	-	3	1138	c.823C>A	c.(823-825)Cag>Aag	p.Q275K	ZNF764_ENST00000252797.2_Missense_Mutation_p.Q276K|AC002310.13_ENST00000568114.1_Intron			Q96H86	ZN764_HUMAN	zinc finger protein 764	276					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7						CGCCGGTGCTGGTAGAGGGCA	0.726													3	9					0.115264	0.120841	1	1	0	T	30566916	G	T	30566916	3	4	250	1	0	0	0	0	1	0	0	0	18188	1357	47	5	404	5	ZNF764	16	30566916	Missense_Mutation	SNP	G	TCGA-HT-7605-01A-11D-2086-08	10095327	30566916	59787837	43	27113											
CLDN7	1366	broad.mit.edu	37	17	7163696	7163696	+	Silent	SNP	C	C	T			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr17:7163696C>T	ENST00000360325.7	-	4	1067	c.633G>A	c.(631-633)gtG>gtA	p.V211V	RP1-4G17.5_ENST00000577138.1_Intron|CLDN7_ENST00000397317.4_Silent_p.V211V|CLDN7_ENST00000538261.3_3'UTR	NM_001307.5	NP_001298.3	O95471	CLD7_HUMAN	claudin 7	211	Interactions with TJP1, TJP2 and TJP3 (By similarity).				calcium-independent cell-cell adhesion	integral to membrane|lateral plasma membrane|tight junction	identical protein binding|structural molecule activity			kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	6						TCCCAGGTCACACATACTCCT	0.597													7	153					0	0	1	0	0	T	7163696	C	T	7163696	2	4	250	1	0	0	0	0	0	0	0	1	3513	465	17	2		2	CLDN7	17	7163696	Silent	SNP	C	TCGA-HT-7605-01A-11D-2086-08		7163696	74031514	44	27114											
DNAH2	146754	broad.mit.edu	37	17	7708392	7708392	+	Splice_Site	SNP	G	G	A			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr17:7708392G>A	ENST00000572933.1	+	60	10760	c.9300G>A	c.(9298-9300)cgG>cgA	p.R3100R	DNAH2_ENST00000389173.2_Splice_Site_p.R3100R			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	3100	Stalk (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				AGGCCATGCGGGTACCAGGGG	0.582													3	67					0	0	1	0	0	A	7708392	G	A	7708392	5	1	250	1	0	0	0	0	0	0	1	0	4630	1246	43	2	9534	2	DNAH2	17	7708392	Splice_Site	SNP	G	TCGA-HT-7605-01A-11D-2086-08	544696	7708392	73486818	45	27115											
KDM6B	23135	broad.mit.edu	37	17	7752905	7752905	+	Missense_Mutation	SNP	C	C	A			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr17:7752905C>A	ENST00000254846.5	+	11	3688	c.3299C>A	c.(3298-3300)cCc>cAc	p.P1100H	KDM6B_ENST00000448097.2_Missense_Mutation_p.P1100H	NM_001080424.1	NP_001073893.1	O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	1100					inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						GAGGGGCCCCCCAAGGAGCTG	0.632													3	30					2.56e-06	2.86897e-06	1	1	0	A	7752905	C	A	7752905	3	1	250	1	0	0	0	0	1	0	0	0	8181	623	22	5	3329	5	KDM6B	17	7752905	Missense_Mutation	SNP	C	TCGA-HT-7605-01A-11D-2086-08	44513	7752905	73442305	46	27116											
MYH8	4626	broad.mit.edu	37	17	10303716	10303716	+	Silent	SNP	G	G	A			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr17:10303716G>A	ENST00000403437.2	-	27	3820	c.3726C>T	c.(3724-3726)tcC>tcT	p.S1242S	RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1242					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						CCTTGGCTTTGGAAATGGCCT	0.438									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				59	180					0	0	1	0	0	A	10303716	G	A	10303716	2	1	250	1	0	0	0	0	0	0	0	1	10089	1335	47	2		2	MYH8	17	10303716	Silent	SNP	G	TCGA-HT-7605-01A-11D-2086-08	2550811	10303716	70891494	47	27117											
TBC1D28	254272	broad.mit.edu	37	17	18539791	18539791	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr17:18539791delC	ENST00000345096.4	-	9	1316	c.617delG	c.(616-618)ggtfs	p.G206fs	TBC1D28_ENST00000405044.1_Frame_Shift_Del_p.G206fs			Q2M2D7	TBC28_HUMAN	TBC1 domain family, member 28	206	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			breast(1)|large_intestine(5)|lung(2)|ovary(1)	9						AGTTGCAACACCCCCGAGAGA	0.532													10	176	---	---	---	---						-	18539791	C	-	18539791	7	5	250	1	0	1	0	1	0	0	0	0	15674	507	18	0	19	0	TBC1D28	17	18539791	Frame_Shift_Del	DEL	C	TCGA-HT-7605-01A-11D-2086-08	8236075	18539791	62655419	48	27118											
SLC25A39	51629	broad.mit.edu	37	17	42399117	42399117	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr17:42399117C>T	ENST00000225308.8	-	6	493	c.319G>A	c.(319-321)Gtg>Atg	p.V107M	SLC25A39_ENST00000586016.1_De_novo_Start_InFrame|SLC25A39_ENST00000537904.2_Missense_Mutation_p.V92M|SLC25A39_ENST00000377095.5_Missense_Mutation_p.V115M|SLC25A39_ENST00000590194.1_Missense_Mutation_p.V107M	NM_016016.2	NP_057100.1	Q9BZJ4	S2539_HUMAN	solute carrier family 25, member 39	115					heme biosynthetic process|transport	integral to membrane|mitochondrial inner membrane				endometrium(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	7		Prostate(33;0.0233)		BRCA - Breast invasive adenocarcinoma(366;0.189)		TCGTGCCTCACGATCTTCACG	0.637													13	38					0	0	1	0	0	T	42399117	C	T	42399117	3	4	250	1	0	0	0	0	1	0	0	0	14558	536	19	1	764	1	SLC25A39	17	42399117	Missense_Mutation	SNP	C	TCGA-HT-7605-01A-11D-2086-08	23859326	42399117	38796093	49	27119											
CACNA1G	8913	broad.mit.edu	37	17	48652951	48652951	+	Silent	SNP	G	G	A			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr17:48652951G>A	ENST00000352832.5	+	8	1560	c.1188G>A	c.(1186-1188)acG>acA	p.T396T	CACNA1G_ENST00000513964.1_Silent_p.T396T|CACNA1G_ENST00000510115.1_Silent_p.T396T|CACNA1G_ENST00000505165.1_Silent_p.T396T|CACNA1G_ENST00000358244.5_Silent_p.T396T|CACNA1G_ENST00000429973.2_Silent_p.T396T|CACNA1G_ENST00000514717.1_Silent_p.T396T|CACNA1G_ENST00000502264.1_Silent_p.T396T|CACNA1G_ENST00000512389.1_Silent_p.T396T|CACNA1G_ENST00000515765.1_Silent_p.T396T|CACNA1G_ENST00000360761.4_Silent_p.T396T|CACNA1G_ENST00000503485.1_Silent_p.T396T|CACNA1G_ENST00000507510.2_Silent_p.T396T|CACNA1G_ENST00000515165.1_Silent_p.T396T|CACNA1G_ENST00000507896.1_Silent_p.T396T|CACNA1G_ENST00000416767.4_Silent_p.T396T|CACNA1G_ENST00000514181.1_Silent_p.T396T|CACNA1G_ENST00000359106.5_Silent_p.T396T|CACNA1G_ENST00000514079.1_Silent_p.T396T|CACNA1G_ENST00000510366.1_Silent_p.T396T|CACNA1G_ENST00000507609.1_Silent_p.T396T|CACNA1G_ENST00000354983.4_Silent_p.T396T|CACNA1G_ENST00000513689.2_Silent_p.T396T|CACNA1G_ENST00000507336.1_Silent_p.T396T|CACNA1G_ENST00000515411.1_Silent_p.T396T|CACNA1G_ENST00000442258.2_Silent_p.T396T	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	396					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	TGATTGCCACGCAGTTCTCAG	0.572													19	46					0	0	1	0	0	A	48652951	G	A	48652951	2	1	250	1	0	0	0	0	0	0	0	1	2562	1074	38	1		1	CACNA1G	17	48652951	Silent	SNP	G	TCGA-HT-7605-01A-11D-2086-08	6253834	48652951	32542259	50	27120											
KANK3	256949	broad.mit.edu	37	19	8398111	8398111	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr19:8398111C>T	ENST00000330915.3	-	7	1788	c.1723G>A	c.(1723-1725)Gca>Aca	p.A575T	KANK3_ENST00000593649.1_Missense_Mutation_p.A575T	NM_198471.2	NP_940873.2	Q6NY19	KANK3_HUMAN	KN motif and ankyrin repeat domains 3	575										breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	9						AGGCGCACTGCGCCCTGCAAG	0.697													3	33					0	0	1	0	0	T	8398111	C	T	8398111	3	4	250	1	0	0	0	0	1	0	0	0	8022	768	27	1	762	1	KANK3	19	8398111	Missense_Mutation	SNP	C	TCGA-HT-7605-01A-11D-2086-08		8398111	50730872	51	27121											
NFIX	4784	broad.mit.edu	37	19	13192587	13192589	+	In_Frame_Del	DEL	ACC	ACC	-			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr19:13192587_13192589delACC	ENST00000358552.3	+	6	1046_1048	c.1046_1048delACC	c.(1045-1050)taccac>tac	p.H353del	NFIX_ENST00000397661.2_In_Frame_Del_p.H395del|NFIX_ENST00000592199.1_In_Frame_Del_p.H395del|NFIX_ENST00000360105.4_In_Frame_Del_p.H357del|NFIX_ENST00000585575.1_In_Frame_Del_p.H387del|NFIX_ENST00000588228.1_In_Frame_Del_p.H348del|NFIX_ENST00000587760.1_In_Frame_Del_p.H387del|NFIX_ENST00000587260.1_In_Frame_Del_p.H394del			Q14938	NFIX_HUMAN	nuclear factor I/X (CCAAT-binding transcription factor)	395					DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(19;8.2e-22)			ACCATCCGCTACCACCACCACCA	0.645											OREG0025286	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	119	---	---	---	---						-	13192589	ACC	-	13192587	7	5	250	1	0	1	0	1	0	0	0	0	10421	391	14	0	1202	0	NFIX	19	13192587	In_Frame_Del	DEL	ACC	TCGA-HT-7605-01A-11D-2086-08	4794476	13192587	45936396	52	27122											
HAS1	3036	broad.mit.edu	37	19	52220383	52220383	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr19:52220383C>T	ENST00000540069.2	-	3	823	c.763G>A	c.(763-765)Gag>Aag	p.E255K	HAS1_ENST00000601714.1_Missense_Mutation_p.E263K|HAS1_ENST00000594621.1_Missense_Mutation_p.E110K|HAS1_ENST00000222115.1_Missense_Mutation_p.E256K			Q92839	HAS1_HUMAN	hyaluronan synthase 1	256					cell adhesion	integral to plasma membrane	hyaluronan synthase activity|protein binding			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	40		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00102)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		CGGGGGTCCTCGTCCAGTACC	0.622													13	69					0	0	1	0	0	T	52220383	C	T	52220383	3	4	250	1	0	0	0	0	1	0	0	0	7002	893	31	1	982	1	HAS1	19	52220383	Missense_Mutation	SNP	C	TCGA-HT-7605-01A-11D-2086-08	39027796	52220383	6908600	53	27123											
TAF1	6872	broad.mit.edu	37	X	70626502	70626502	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chrX:70626502G>T	ENST00000449580.1	+	26	4061	c.4010G>T	c.(4009-4011)cGc>cTc	p.R1337L	TAF1_ENST00000423759.1_Missense_Mutation_p.R1358L|TAF1_ENST00000276072.3_Missense_Mutation_p.R1358L|TAF1_ENST00000373790.4_Missense_Mutation_p.R1337L			P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	1337					G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				GATGAGGTTCGCAGAAAATCT	0.398													6	37					5.18039e-06	5.70721e-06	1	1	0	T	70626502	G	T	70626502	3	4	250	1	0	0	0	0	1	0	0	0	15570	1087	38	5	4175	5	TAF1	23	70626502	Missense_Mutation	SNP	G	TCGA-HT-7605-01A-11D-2086-08		70626502	84644058	54	27124											
FMR1NB	158521	broad.mit.edu	37	X	147106438	147106438	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chrX:147106438A>G	ENST00000370467.3	+	5	760	c.686A>G	c.(685-687)aAg>aGg	p.K229R		NM_152578.2	NP_689791.1	Q8N0W7	FMR1N_HUMAN	fragile X mental retardation 1 neighbor	229						integral to membrane				breast(2)|cervix(1)|endometrium(3)|large_intestine(7)|lung(10)|ovary(1)|skin(1)	25	Acute lymphoblastic leukemia(192;6.56e-05)					ACGGGTTTGAAGAAACAAAGA	0.413													3	45					0	0	1	0	0	G	147106438	A	G	147106438	3	3	250	1	0	0	0	0	1	0	0	0	5994	72	3	3	704	3	FMR1NB	23	147106438	Missense_Mutation	SNP	A	TCGA-HT-7605-01A-11D-2086-08	76479936	147106438	8164122	55	27125											
FGR	2268	broad.mit.edu	37	1	27943402	27943402	+	Silent	SNP	G	G	A			TCGA-HT-7606-01A-11D-2086-08	TCGA-HT-7606-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9734311d-3183-459b-8200-7104fba3bf64	7c7214f7-036a-4ac9-9883-1a93d9eb6f10	g.chr1:27943402G>A	ENST00000374005.3	-	7	936	c.648C>T	c.(646-648)ttC>ttT	p.F216F	FGR_ENST00000545953.1_Silent_p.F150F|FGR_ENST00000399173.1_Silent_p.F216F|FGR_ENST00000374004.1_Silent_p.F216F	NM_005248.2	NP_005239.1	P09769	FGR_HUMAN	feline Gardner-Rasheed sarcoma viral oncogene homolog	216	SH2.				platelet activation|response to virus	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(4)	16		all_lung(284;2.05e-05)|Colorectal(325;3.46e-05)|Lung NSC(340;3.67e-05)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00244)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		GCACCGAGTTGAACTGAACCC	0.562													47	101					0	0	1	0	0	A	27943402	G	A	27943402	2	1	251	1	0	0	0	0	0	0	0	1	5907	1281	45	2		2	FGR	1	27943402	Silent	SNP	G	TCGA-HT-7606-01A-11D-2086-08		27943402	221307219	1	27126											
ZSCAN20	7579	broad.mit.edu	37	1	33960425	33960425	+	Silent	SNP	T	T	G			TCGA-HT-7606-01A-11D-2086-08	TCGA-HT-7606-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9734311d-3183-459b-8200-7104fba3bf64	7c7214f7-036a-4ac9-9883-1a93d9eb6f10	g.chr1:33960425T>G	ENST00000361328.3	+	8	2634	c.2481T>G	c.(2479-2481)ccT>ccG	p.P827P		NM_145238.3	NP_660281	P17040	ZSC20_HUMAN	zinc finger and SCAN domain containing 20	827					viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				GTAGTGAGCCTGGGGGAAACT	0.448													77	112					0	0	1	0	0	G	33960425	T	G	33960425	2	3	251	1	0	0	0	0	0	0	0	1	18273	1567	55	5		5	ZSCAN20	1	33960425	Silent	SNP	T	TCGA-HT-7606-01A-11D-2086-08	6017023	33960425	215290196	2	27127											
LRRC8D	55144	broad.mit.edu	37	1	90400076	90400076	+	Silent	SNP	C	C	T			TCGA-HT-7606-01A-11D-2086-08	TCGA-HT-7606-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9734311d-3183-459b-8200-7104fba3bf64	7c7214f7-036a-4ac9-9883-1a93d9eb6f10	g.chr1:90400076C>T	ENST00000337338.5	+	3	1856	c.1449C>T	c.(1447-1449)ccC>ccT	p.P483P	LRRC8D_ENST00000394593.3_Silent_p.P483P	NM_001134479.1	NP_001127951.1	Q7L1W4	LRC8D_HUMAN	leucine rich repeat containing 8 family, member D	483						integral to membrane	protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(2)|skin(1)	29		all_lung(203;0.0894)|Lung NSC(277;0.227)		all cancers(265;0.0109)|Epithelial(280;0.0427)		CGGGGGTGCCCGATGCTGTCT	0.468													13	28					0	0	1	0	0	T	90400076	C	T	90400076	2	4	251	1	0	0	0	0	0	0	0	1	9069	639	23	1		1	LRRC8D	1	90400076	Silent	SNP	C	TCGA-HT-7606-01A-11D-2086-08	56439651	90400076	158850545	3	27128											
CFHR5	81494	broad.mit.edu	37	1	196953247	196953247	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7606-01A-11D-2086-08	TCGA-HT-7606-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9734311d-3183-459b-8200-7104fba3bf64	7c7214f7-036a-4ac9-9883-1a93d9eb6f10	g.chr1:196953247C>T	ENST00000367414.5	+	3	538	c.482C>T	c.(481-483)cCt>cTt	p.P161L	CFHR5_ENST00000256785.4_Missense_Mutation_p.P137L	NM_030787.3	NP_110414.1	Q9BXR6	FHR5_HUMAN	complement factor H-related 5	137	Sushi 3.				complement activation, alternative pathway	extracellular region				NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						TGGTCCACTCCTCCCATATGC	0.348													15	31					0	0	1	0	0	T	196953247	C	T	196953247	3	4	251	1	0	0	0	0	1	0	0	0	3310	681	24	2	420	2	CFHR5	1	196953247	Missense_Mutation	SNP	C	TCGA-HT-7606-01A-11D-2086-08	106553171	196953247	52297374	4	27129											
ASPM	259266	broad.mit.edu	37	1	197091601	197091601	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7606-01A-11D-2086-08	TCGA-HT-7606-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9734311d-3183-459b-8200-7104fba3bf64	7c7214f7-036a-4ac9-9883-1a93d9eb6f10	g.chr1:197091601G>A	ENST00000367409.4	-	14	3771	c.3515C>T	c.(3514-3516)aCg>aTg	p.T1172M	ASPM_ENST00000294732.7_Missense_Mutation_p.T1172M|ASPM_ENST00000367408.1_Missense_Mutation_p.T422M	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	1172	CH 2.				mitosis	cytoplasm|nucleus	calmodulin binding	p.T1172M(1)		breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						ACCAGTTTGCGTACATTCCAC	0.413													9	19					0	0	1	0	0	A	197091601	G	A	197091601	3	1	251	1	0	0	0	0	1	0	0	0	1055	1145	40	1	6978	1	ASPM	1	197091601	Missense_Mutation	SNP	G	TCGA-HT-7606-01A-11D-2086-08	138354	197091601	52159020	5	27130											
C2orf16	84226	broad.mit.edu	37	2	27804533	27804533	+	Silent	SNP	T	T	C	rs112180798		TCGA-HT-7606-01A-11D-2086-08	TCGA-HT-7606-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9734311d-3183-459b-8200-7104fba3bf64	7c7214f7-036a-4ac9-9883-1a93d9eb6f10	g.chr2:27804533T>C	ENST00000408964.2	+	1	5145	c.5094T>C	c.(5092-5094)tcT>tcC	p.S1698S		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	1698	27 X 8 AA approximative tandem repeat of P-S-E-R-S-H-H-S.|Arg-rich.									breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					GCAGTCCCTCTCAGAGGAGCC	0.587													5	132					0	0	1	0	0	C	27804533	T	C	27804533	2	2	251	1	0	0	0	0	0	0	0	1	2171	1538	54	3		3	C2orf16	2	27804533	Silent	SNP	T	TCGA-HT-7606-01A-11D-2086-08		27804533	215394840	6	27131											
CCDC150	284992	broad.mit.edu	37	2	197585312	197585312	+	Missense_Mutation	SNP	C	C	A			TCGA-HT-7606-01A-11D-2086-08	TCGA-HT-7606-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9734311d-3183-459b-8200-7104fba3bf64	7c7214f7-036a-4ac9-9883-1a93d9eb6f10	g.chr2:197585312C>A	ENST00000389175.4	+	20	2314	c.2179C>A	c.(2179-2181)Cag>Aag	p.Q727K	CCDC150_ENST00000487663.1_3'UTR|CCDC150_ENST00000272831.7_Missense_Mutation_p.Q374K|CCDC150_ENST00000409270.1_Missense_Mutation_p.Q214K	NM_001080539.1	NP_001074008.1	Q8NCX0	CC150_HUMAN	coiled-coil domain containing 150	727										breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(14)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	33						TCTCAATCAACAGAGGGTGCA	0.448													8	31					5.18039e-06	5.37226e-06	1	1	0	A	197585312	C	A	197585312	3	1	251	1	0	0	0	0	1	0	0	0	2803	479	17	5	2257	5	CCDC150	2	197585312	Missense_Mutation	SNP	C	TCGA-HT-7606-01A-11D-2086-08	169780779	197585312	45614061	7	27132											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-HT-7606-01A-11D-2086-08	TCGA-HT-7606-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9734311d-3183-459b-8200-7104fba3bf64	7c7214f7-036a-4ac9-9883-1a93d9eb6f10	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	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								27	39					0	0	1	0	0	T	209113112	C	T	209113112	3	4	251	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HT-7606-01A-11D-2086-08	11527800	209113112	34086261	8	27133											
VIL1	7429	broad.mit.edu	37	2	219295519	219295519	+	Silent	SNP	C	C	T			TCGA-HT-7606-01A-11D-2086-08	TCGA-HT-7606-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9734311d-3183-459b-8200-7104fba3bf64	7c7214f7-036a-4ac9-9883-1a93d9eb6f10	g.chr2:219295519C>T	ENST00000248444.5	+	10	1108	c.1020C>T	c.(1018-1020)gcC>gcT	p.A340A	VIL1_ENST00000392114.2_Silent_p.A29A|VIL1_ENST00000440053.1_Silent_p.A340A	NM_007127.2	NP_009058.2	P09327	VILI_HUMAN	villin 1	340	Core.				actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium	actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle	actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Renal(207;0.0474)		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CTGAGTCGGCCGTCTTTCAGC	0.597													13	34					0	0	1	0	0	T	219295519	C	T	219295519	2	4	251	1	0	0	0	0	0	0	0	1	17224	639	23	1		1	VIL1	2	219295519	Silent	SNP	C	TCGA-HT-7606-01A-11D-2086-08	10182407	219295519	23903854	9	27134											
PCDH18	54510	broad.mit.edu	37	4	138452008	138452008	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7606-01A-11D-2086-08	TCGA-HT-7606-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9734311d-3183-459b-8200-7104fba3bf64	7c7214f7-036a-4ac9-9883-1a93d9eb6f10	g.chr4:138452008T>C	ENST00000344876.4	-	1	1621	c.1235A>G	c.(1234-1236)gAa>gGa	p.E412G	PCDH18_ENST00000412923.2_Missense_Mutation_p.E412G|PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000507846.1_Missense_Mutation_p.E192G	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	412	Cadherin 4.				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					ATAATTGTTTTCATATGTCTT	0.403													3	23					0	0	1	0	0	C	138452008	T	C	138452008	3	2	251	1	0	0	0	0	1	0	0	0	11560	1783	62	3	2188	3	PCDH18	4	138452008	Missense_Mutation	SNP	T	TCGA-HT-7606-01A-11D-2086-08		138452008	52702268	10	27135											
PCDHA11	56138	broad.mit.edu	37	5	140249016	140249016	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7606-01A-11D-2086-08	TCGA-HT-7606-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9734311d-3183-459b-8200-7104fba3bf64	7c7214f7-036a-4ac9-9883-1a93d9eb6f10	g.chr5:140249016G>A	ENST00000398640.2	+	1	328	c.328G>A	c.(328-330)Gtg>Atg	p.V110M	PCDHA5_ENST00000529859.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron	NM_018902.3	NP_061725.1														breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGAGGTGATCGTGGACAGGCC	0.552													122	134					0	0	1	0	0	A	140249016	G	A	140249016	3	1	251	1	0	0	0	0	1	0	0	0	11568	1145	40	1	330	1	PCDHA11	5	140249016	Missense_Mutation	SNP	G	TCGA-HT-7606-01A-11D-2086-08		140249016	40666244	11	27136											
DUSP22	56940	broad.mit.edu	37	6	348774	348774	+	Silent	SNP	G	G	T			TCGA-HT-7606-01A-11D-2086-08	TCGA-HT-7606-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9734311d-3183-459b-8200-7104fba3bf64	7c7214f7-036a-4ac9-9883-1a93d9eb6f10	g.chr6:348774G>T	ENST00000604971.1	+	4	1245	c.132G>T	c.(130-132)cgG>cgT	p.R44R	DUSP22_ENST00000419235.2_Silent_p.R147R|DUSP22_ENST00000605035.1_3'UTR|DUSP22_ENST00000344450.5_Silent_p.R147R|DUSP22_ENST00000605315.1_Silent_p.R44R|DUSP22_ENST00000603453.1_Silent_p.R44R			Q9NRW4	DUS22_HUMAN	dual specificity phosphatase 22	147					apoptosis|cell proliferation|inactivation of MAPK activity|multicellular organismal development|positive regulation of JNK cascade|regulation of cell proliferation|transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(2)	26	all_hematologic(77;0.228)	Breast(5;0.0249)|all_hematologic(90;0.0489)		OV - Ovarian serous cystadenocarcinoma(45;0.0277)|BRCA - Breast invasive adenocarcinoma(62;0.0669)		TCCAGTATCGGCAGTGGCTGA	0.522													18	75					2.98393e-07	3.15283e-07	1	1	0	T	348774	G	T	348774	2	4	251	1	0	0	0	0	0	0	0	1	4847	1190	42	5		5	DUSP22	6	348774	Silent	SNP	G	TCGA-HT-7606-01A-11D-2086-08		348774	170766293	12	27137											
FIGNL1	63979	broad.mit.edu	37	7	50513534	50513534	+	Silent	SNP	T	T	C			TCGA-HT-7606-01A-11D-2086-08	TCGA-HT-7606-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9734311d-3183-459b-8200-7104fba3bf64	7c7214f7-036a-4ac9-9883-1a93d9eb6f10	g.chr7:50513534T>C	ENST00000419119.1	-	2	3005	c.1452A>G	c.(1450-1452)gcA>gcG	p.A484A	FIGNL1_ENST00000433017.1_Silent_p.A484A|FIGNL1_ENST00000395556.2_Silent_p.A484A|FIGNL1_ENST00000356889.4_Silent_p.A484A			Q6PIW4	FIGL1_HUMAN	fidgetin-like 1	484					ATP metabolic process|negative regulation of apoptosis|osteoblast differentiation|osteoblast proliferation|regulation of cell cycle	cytoplasm|nucleus	ATP binding|magnesium ion binding|nucleoside-triphosphatase activity			endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	29	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;3.73e-08)|all_hematologic(4;7.51e-06)				CAGCAAACAATGCACGGACCA	0.443													43	59					0	0	1	0	0	C	50513534	T	C	50513534	2	2	251	1	0	0	0	0	0	0	0	1	5925	1451	51	3		3	FIGNL1	7	50513534	Silent	SNP	T	TCGA-HT-7606-01A-11D-2086-08		50513534	108625129	13	27138											
ZNF138	7697	broad.mit.edu	37	7	64292367	64292367	+	Missense_Mutation	SNP	A	A	C			TCGA-HT-7606-01A-11D-2086-08	TCGA-HT-7606-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9734311d-3183-459b-8200-7104fba3bf64	7c7214f7-036a-4ac9-9883-1a93d9eb6f10	g.chr7:64292367A>C	ENST00000359735.3	+	4	923	c.576A>C	c.(574-576)aaA>aaC	p.K192N	ZNF138_ENST00000397136.2_Missense_Mutation_p.K192N|ZNF138_ENST00000440598.1_3'UTR|ZNF138_ENST00000437743.1_Missense_Mutation_p.K217N|ZNF138_ENST00000440155.2_Missense_Mutation_p.K223N|ZNF138_ENST00000430838.2_3'UTR|ZNF138_ENST00000307355.7_Missense_Mutation_p.K249N	NM_001271637.1|NM_001271639.1	NP_001258566.1|NP_001258568.1	B4DP87	B4DP87_HUMAN	zinc finger protein 138	223					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	p.K192K(1)		kidney(1)|large_intestine(3)|lung(2)|stomach(1)	7		Lung NSC(55;0.0795)|all_lung(88;0.18)				CTGGAGAAAAACCCTATAAAT	0.368													16	13					0	0	1	0	0	C	64292367	A	C	64292367	3	2	251	1	0	0	0	0	1	0	0	0	17785	40	2	5	902	5	ZNF138	7	64292367	Missense_Mutation	SNP	A	TCGA-HT-7606-01A-11D-2086-08	13778833	64292367	94846296	14	27139											
SEMA3C	10512	broad.mit.edu	37	7	80374454	80374454	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7606-01A-11D-2086-08	TCGA-HT-7606-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9734311d-3183-459b-8200-7104fba3bf64	7c7214f7-036a-4ac9-9883-1a93d9eb6f10	g.chr7:80374454G>A	ENST00000265361.3	-	18	2573	c.2012C>T	c.(2011-2013)aCg>aTg	p.T671M	SEMA3C_ENST00000419255.2_Missense_Mutation_p.T671M|SEMA3C_ENST00000544525.1_Missense_Mutation_p.T689M	NM_006379.3	NP_006370.1	Q99985	SEM3C_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C	671					immune response|response to drug	membrane	receptor activity			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						CCATTTGTCCGTCACAACAGC	0.478													19	31					0	0	1	0	0	A	80374454	G	A	80374454	3	1	251	1	0	0	0	0	1	0	0	0	14080	1145	40	1	247	1	SEMA3C	7	80374454	Missense_Mutation	SNP	G	TCGA-HT-7606-01A-11D-2086-08	16082087	80374454	78764209	15	27140											
JPH1	56704	broad.mit.edu	37	8	75171665	75171665	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7606-01A-11D-2086-08	TCGA-HT-7606-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9734311d-3183-459b-8200-7104fba3bf64	7c7214f7-036a-4ac9-9883-1a93d9eb6f10	g.chr8:75171665C>T	ENST00000342232.4	-	3	1253	c.1213G>A	c.(1213-1215)Gcg>Acg	p.A405T		NM_020647.2	NP_065698.1	Q9HDC5	JPH1_HUMAN	junctophilin 1	405	Ala-rich.				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional membrane complex|junctional sarcoplasmic reticulum membrane|plasma membrane				endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	24	Breast(64;0.00576)		BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)			ACAGCTCTCGCGATGTCGCAC	0.607													18	22					0	0	1	0	0	T	75171665	C	T	75171665	3	4	251	1	0	0	0	0	1	0	0	0	8004	768	27	1	784	1	JPH1	8	75171665	Missense_Mutation	SNP	C	TCGA-HT-7606-01A-11D-2086-08		75171665	71192357	16	27141											
NUDCD1	84955	broad.mit.edu	37	8	110287672	110287672	+	Missense_Mutation	SNP	A	A	C			TCGA-HT-7606-01A-11D-2086-08	TCGA-HT-7606-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9734311d-3183-459b-8200-7104fba3bf64	7c7214f7-036a-4ac9-9883-1a93d9eb6f10	g.chr8:110287672A>C	ENST00000239690.4	-	7	1456	c.1082T>G	c.(1081-1083)gTa>gGa	p.V361G	NUDCD1_ENST00000427660.2_Missense_Mutation_p.V332G	NM_032869.3	NP_116258.2	Q96RS6	NUDC1_HUMAN	NudC domain containing 1	361	CS.									breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(2)|skin(1)	25	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;1.56e-12)			ATCTCCAATTACTAGCTCTGG	0.383													10	21					0	0	1	0	0	C	110287672	A	C	110287672	3	2	251	1	0	0	0	0	1	0	0	0	10770	391	14	5	685	5	NUDCD1	8	110287672	Missense_Mutation	SNP	A	TCGA-HT-7606-01A-11D-2086-08	35116007	110287672	36076350	17	27142											
EPPK1	83481	broad.mit.edu	37	8	144940576	144940576	+	Silent	SNP	C	C	T			TCGA-HT-7606-01A-11D-2086-08	TCGA-HT-7606-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9734311d-3183-459b-8200-7104fba3bf64	7c7214f7-036a-4ac9-9883-1a93d9eb6f10	g.chr8:144940576C>T	ENST00000525985.1	-	2	6917	c.6846G>A	c.(6844-6846)tcG>tcA	p.S2282S				P58107	EPIPL_HUMAN	epiplakin 1	2282						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)			CCTCCTCCACCGACAGCCTCA	0.736													3	64					0	0	1	0	0	T	144940576	C	T	144940576	2	4	251	1	0	0	0	0	0	0	0	1	5218	639	23	1		1	EPPK1	8	144940576	Silent	SNP	C	TCGA-HT-7606-01A-11D-2086-08	34652904	144940576	1423446	18	27143											
ZFP37	7539	broad.mit.edu	37	9	115811700	115811700	+	Silent	SNP	T	T	C			TCGA-HT-7606-01A-11D-2086-08	TCGA-HT-7606-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9734311d-3183-459b-8200-7104fba3bf64	7c7214f7-036a-4ac9-9883-1a93d9eb6f10	g.chr9:115811700T>C	ENST00000374227.3	-	3	318	c.291A>G	c.(289-291)agA>agG	p.R97R	ZFP37_ENST00000555206.1_Silent_p.R98R|ZFP37_ENST00000553380.1_Silent_p.R112R	NM_001282515.1|NM_001282518.1	NP_001269444.1|NP_001269447.1	Q9Y6Q3	ZFP37_HUMAN	ZFP37 zinc finger protein	97	KRAB.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						CTTGACTGGGTCTTTTCCCCT	0.403													22	6					0	0	1	0	0	C	115811700	T	C	115811700	2	2	251	1	0	0	0	0	0	0	0	1	17706	1664	58	3		3	ZFP37	9	115811700	Silent	SNP	T	TCGA-HT-7606-01A-11D-2086-08		115811700	25401731	19	27144											
DDX31	64794	broad.mit.edu	37	9	135522404	135522404	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7606-01A-11D-2086-08	TCGA-HT-7606-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9734311d-3183-459b-8200-7104fba3bf64	7c7214f7-036a-4ac9-9883-1a93d9eb6f10	g.chr9:135522404T>C	ENST00000372159.3	-	12	1475	c.1324A>G	c.(1324-1326)Agt>Ggt	p.S442G	DDX31_ENST00000310532.2_Missense_Mutation_p.S442G|DDX31_ENST00000372153.1_Missense_Mutation_p.S442G|DDX31_ENST00000438527.3_Missense_Mutation_p.S313G	NM_022779.7	NP_073616.6	Q9H8H2	DDX31_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 31	442	Helicase ATP-binding.					nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	27				OV - Ovarian serous cystadenocarcinoma(145;2.67e-06)|Epithelial(140;7.61e-05)		ACAGAAATACTGACTGGATCA	0.493													31	44					0	0	1	0	0	C	135522404	T	C	135522404	3	2	251	1	0	0	0	0	1	0	0	0	4379	1580	55	3	1274	3	DDX31	9	135522404	Missense_Mutation	SNP	T	TCGA-HT-7606-01A-11D-2086-08	19710704	135522404	5691027	20	27145											
ANK3	288	broad.mit.edu	37	10	61958113	61958113	+	Silent	SNP	T	T	C			TCGA-HT-7606-01A-11D-2086-08	TCGA-HT-7606-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9734311d-3183-459b-8200-7104fba3bf64	7c7214f7-036a-4ac9-9883-1a93d9eb6f10	g.chr10:61958113T>C	ENST00000280772.2	-	14	1865	c.1674A>G	c.(1672-1674)ttA>ttG	p.L558L	ANK3_ENST00000373827.2_Silent_p.L552L|ANK3_ENST00000503366.1_Silent_p.L541L	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)						establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TTGTTATAGATAAAGACGCTC	0.498													11	15					0	0	1	0	0	C	61958113	T	C	61958113	2	2	251	1	0	0	0	0	0	0	0	1	618	1403	49	3		3	ANK3	10	61958113	Silent	SNP	T	TCGA-HT-7606-01A-11D-2086-08		61958113	73576634	21	27146											
OR2AG2	338755	broad.mit.edu	37	11	6789589	6789589	+	Silent	SNP	G	G	A			TCGA-HT-7606-01A-11D-2086-08	TCGA-HT-7606-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9734311d-3183-459b-8200-7104fba3bf64	7c7214f7-036a-4ac9-9883-1a93d9eb6f10	g.chr11:6789589G>A	ENST00000338569.2	-	1	697	c.600C>T	c.(598-600)taC>taT	p.Y200Y		NM_001004490.1	NP_001004490.1	A6NM03	O2AG2_HUMAN	olfactory receptor, family 2, subfamily AG, member 2	200					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(13)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1)	28		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)		Epithelial(150;2.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		CACCTGTCACGTATATTATAA	0.493													10	15					0	0	1	0	0	A	6789589	G	A	6789589	2	1	251	1	0	0	0	0	0	0	0	1	11033	1140	40	1		1	OR2AG2	11	6789589	Silent	SNP	G	TCGA-HT-7606-01A-11D-2086-08		6789589	128216927	22	27147											
SIPA1	6494	broad.mit.edu	37	11	65408733	65408733	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7606-01A-11D-2086-08	TCGA-HT-7606-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9734311d-3183-459b-8200-7104fba3bf64	7c7214f7-036a-4ac9-9883-1a93d9eb6f10	g.chr11:65408733G>A	ENST00000394224.3	+	2	637	c.341G>A	c.(340-342)cGa>cAa	p.R114Q	SIPA1_ENST00000534313.1_Missense_Mutation_p.R114Q|SIPA1_ENST00000527525.1_Missense_Mutation_p.R114Q|SIPA1_ENST00000394227.3_Missense_Mutation_p.R114Q	NM_153253.29	NP_694985.29	Q96FS4	SIPA1_HUMAN	signal-induced proliferation-associated 1	114					cell proliferation|cytoskeleton organization|intracellular signal transduction|negative regulation of cell adhesion|negative regulation of cell cycle|negative regulation of cell growth	cytosol|endomembrane system|membrane|perinuclear region of cytoplasm	Rap GTPase activator activity			cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	10						CTTGAGCCTCGATGGTTTGCC	0.632													52	75					0	0	1	0	0	A	65408733	G	A	65408733	3	1	251	1	0	0	0	0	1	0	0	0	14383	1058	37	1	343	1	SIPA1	11	65408733	Missense_Mutation	SNP	G	TCGA-HT-7606-01A-11D-2086-08	58619144	65408733	69597783	23	27148											
PLEKHA5	54477	broad.mit.edu	37	12	19489486	19489486	+	Missense_Mutation	SNP	A	A	C			TCGA-HT-7606-01A-11D-2086-08	TCGA-HT-7606-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9734311d-3183-459b-8200-7104fba3bf64	7c7214f7-036a-4ac9-9883-1a93d9eb6f10	g.chr12:19489486A>C	ENST00000538714.1	+	18	2355	c.2351A>C	c.(2350-2352)gAa>gCa	p.E784A	PLEKHA5_ENST00000299275.6_Missense_Mutation_p.E726A|PLEKHA5_ENST00000317589.4_Missense_Mutation_p.E726A|PLEKHA5_ENST00000539256.1_Missense_Mutation_p.E484A|PLEKHA5_ENST00000355397.3_Missense_Mutation_p.E784A|PLEKHA5_ENST00000543806.1_Missense_Mutation_p.E645A|PLEKHA5_ENST00000359180.3_Missense_Mutation_p.E726A|PLEKHA5_ENST00000429027.2_Missense_Mutation_p.E829A|PLEKHA5_ENST00000424268.1_Missense_Mutation_p.E657A	NM_001143821.2	NP_001137293.2	Q9HAU0	PKHA5_HUMAN	pleckstrin homology domain containing, family A member 5	726							1-phosphatidylinositol binding|protein binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)					GATAAGTTAGAATACGATGTA	0.348													20	28					0	0	1	0	0	C	19489486	A	C	19489486	3	2	251	1	0	0	0	0	1	0	0	0	12107	246	9	5	2364	5	PLEKHA5	12	19489486	Missense_Mutation	SNP	A	TCGA-HT-7606-01A-11D-2086-08		19489486	114362409	24	27149											
KCNJ8	3764	broad.mit.edu	37	12	21926252	21926252	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7606-01A-11D-2086-08	TCGA-HT-7606-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9734311d-3183-459b-8200-7104fba3bf64	7c7214f7-036a-4ac9-9883-1a93d9eb6f10	g.chr12:21926252T>C	ENST00000240662.2	-	2	644	c.299A>G	c.(298-300)gAc>gGc	p.D100G		NM_004982.3	NP_004973.1	Q15842	IRK8_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 8	100						voltage-gated potassium channel complex				cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28					Levosimendan(DB00922)	AGCATAGATGTCCCCATGGGC	0.507											OREG0021704	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	33	34					0	0	1	0	0	C	21926252	T	C	21926252	3	2	251	1	0	0	0	0	1	0	0	0	8100	1667	58	3	983	3	KCNJ8	12	21926252	Missense_Mutation	SNP	T	TCGA-HT-7606-01A-11D-2086-08	2436766	21926252	111925643	25	27150											
NACA	4666	broad.mit.edu	37	12	57111705	57111705	+	Silent	SNP	G	G	A	rs2926746		TCGA-HT-7606-01A-11D-2086-08	TCGA-HT-7606-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9734311d-3183-459b-8200-7104fba3bf64	7c7214f7-036a-4ac9-9883-1a93d9eb6f10	g.chr12:57111705G>A	ENST00000454682.1	-	3	3890	c.3609C>T	c.(3607-3609)ccC>ccT	p.P1203P	NACA_ENST00000548563.1_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000393891.4_Intron	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN	nascent polypeptide-associated complex alpha subunit	0					interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						CTTTTGGGGAGGGAGGAGTTG	0.642			T	BCL6	NHL								6	74					0	0	1	0	0	A	57111705	G	A	57111705	2	1	251	1	0	0	0	0	0	0	0	1	10181	987	35	2		2	NACA	12	57111705	Silent	SNP	G	TCGA-HT-7606-01A-11D-2086-08	35185453	57111705	76740190	26	27151											
LRRK1	79705	broad.mit.edu	37	15	101588788	101588788	+	Silent	SNP	A	A	G			TCGA-HT-7606-01A-11D-2086-08	TCGA-HT-7606-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9734311d-3183-459b-8200-7104fba3bf64	7c7214f7-036a-4ac9-9883-1a93d9eb6f10	g.chr15:101588788A>G	ENST00000284395.5	+	23	3616	c.3216A>G	c.(3214-3216)acA>acG	p.T1072T	LRRK1_ENST00000388948.3_Silent_p.T1075T|RP11-505E24.3_ENST00000558979.1_RNA			Q38SD2	LRRK1_HUMAN	leucine-rich repeat kinase 1	1075					small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			GCTGTAGCACATTCAGAGTGA	0.448													45	28					0	0	1	0	0	G	101588788	A	G	101588788	2	3	251	1	0	0	0	0	0	0	0	1	9077	204	8	3		3	LRRK1	15	101588788	Silent	SNP	A	TCGA-HT-7606-01A-11D-2086-08		101588788	942604	27	27152											
TP53	7157	broad.mit.edu	37	17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	rs121913343		TCGA-HT-7606-01A-11D-2086-08	TCGA-HT-7606-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9734311d-3183-459b-8200-7104fba3bf64	7c7214f7-036a-4ac9-9883-1a93d9eb6f10	g.chr17:7577121G>A	ENST00000420246.2	-	8	949	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000269305.4_Missense_Mutation_p.R273C|TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000445888.2_Missense_Mutation_p.R273C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	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).		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.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			8	0					0	0	1	0	0	A	7577121	G	A	7577121	3	1	251	1	0	0	0	0	1	0	0	0	16442	1087	38	1	469	1	TP53	17	7577121	Missense_Mutation	SNP	G	TCGA-HT-7606-01A-11D-2086-08		7577121	73618089	28	27153											
GAS2L2	246176	broad.mit.edu	37	17	34079638	34079638	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7606-01A-11D-2086-08	TCGA-HT-7606-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9734311d-3183-459b-8200-7104fba3bf64	7c7214f7-036a-4ac9-9883-1a93d9eb6f10	g.chr17:34079638C>T	ENST00000254466.6	-	1	259	c.232G>A	c.(232-234)Gcc>Acc	p.A78T	GAS2L2_ENST00000587565.1_Missense_Mutation_p.A78T	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	78	CH.				cell cycle arrest	cytoplasm|cytoskeleton				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GCCAGGAAGGCCAGGGCAGCG	0.652													21	30					0	0	1	0	0	T	34079638	C	T	34079638	3	4	251	1	0	0	0	0	1	0	0	0	6287	739	26	2	2434	2	GAS2L2	17	34079638	Missense_Mutation	SNP	C	TCGA-HT-7606-01A-11D-2086-08	26502517	34079638	47115572	29	27154											
HELZ	9931	broad.mit.edu	37	17	65174991	65174991	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7606-01A-11D-2086-08	TCGA-HT-7606-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9734311d-3183-459b-8200-7104fba3bf64	7c7214f7-036a-4ac9-9883-1a93d9eb6f10	g.chr17:65174991C>T	ENST00000358691.5	-	13	1380	c.1214G>A	c.(1213-1215)cGt>cAt	p.R405H	HELZ_ENST00000580168.1_Missense_Mutation_p.R405H	NM_014877.3	NP_055692			helicase with zinc finger											NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					AGAATCCCAACGTTTAGCTGT	0.348													14	24					0	0	1	0	0	T	65174991	C	T	65174991	3	4	251	1	0	0	0	0	1	0	0	0	7090	536	19	1	4698	1	HELZ	17	65174991	Missense_Mutation	SNP	C	TCGA-HT-7606-01A-11D-2086-08	31095353	65174991	16020219	30	27155											
SMARCA4	6597	broad.mit.edu	37	19	11132434	11132434	+	Missense_Mutation	SNP	C	C	A			TCGA-HT-7606-01A-11D-2086-08	TCGA-HT-7606-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9734311d-3183-459b-8200-7104fba3bf64	7c7214f7-036a-4ac9-9883-1a93d9eb6f10	g.chr19:11132434C>A	ENST00000358026.2	+	19	2934	c.2650C>A	c.(2650-2652)Cac>Aac	p.H884N	SMARCA4_ENST00000589677.1_Missense_Mutation_p.H884N|SMARCA4_ENST00000590574.1_Missense_Mutation_p.H884N|SMARCA4_ENST00000429416.3_Missense_Mutation_p.H884N|SMARCA4_ENST00000450717.3_Missense_Mutation_p.H884N|SMARCA4_ENST00000444061.3_Missense_Mutation_p.H884N|SMARCA4_ENST00000413806.3_Missense_Mutation_p.H884N|SMARCA4_ENST00000541122.2_Missense_Mutation_p.H884N|SMARCA4_ENST00000344626.4_Missense_Mutation_p.H884N	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	884	Helicase ATP-binding.				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				GGACGAAGGTCACCGCATGAA	0.622			"F, N, Mis"		NSCLC								13	16					6.72482e-11	7.38412e-11	1	1	0	A	11132434	C	A	11132434	3	1	251	1	0	0	0	0	1	0	0	0	14824	826	29	5	2720	5	SMARCA4	19	11132434	Missense_Mutation	SNP	C	TCGA-HT-7606-01A-11D-2086-08		11132434	47996549	31	27156											
EPS15L1	58513	broad.mit.edu	37	19	16487940	16487940	+	Silent	SNP	C	C	T			TCGA-HT-7606-01A-11D-2086-08	TCGA-HT-7606-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9734311d-3183-459b-8200-7104fba3bf64	7c7214f7-036a-4ac9-9883-1a93d9eb6f10	g.chr19:16487940C>T	ENST00000455140.2	-	22	2439	c.2373G>A	c.(2371-2373)ccG>ccA	p.P791P	EPS15L1_ENST00000248070.6_Silent_p.P791P|EPS15L1_ENST00000535753.2_Intron|EPS15L1_ENST00000594975.1_Intron	NM_001258374.1	NP_001245303.1	Q9UBC2	EP15R_HUMAN	epidermal growth factor receptor pathway substrate 15-like 1	791	15 X 3 AA repeats of D-P-F.|Pro-rich.				endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	coated pit|nucleus|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(4)|skin(2)	30						GACCGCTGGGCGGTTTAGGCC	0.612											OREG0025332	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	19					0	0	1	0	0	T	16487940	C	T	16487940	2	4	251	1	0	0	0	0	0	0	0	1	5221	755	27	1		1	EPS15L1	19	16487940	Silent	SNP	C	TCGA-HT-7606-01A-11D-2086-08	5355506	16487940	42641043	32	27157											
SLC25A1	6576	broad.mit.edu	37	22	19164192	19164192	+	Missense_Mutation	SNP	T	T	G			TCGA-HT-7606-01A-11D-2086-08	TCGA-HT-7606-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9734311d-3183-459b-8200-7104fba3bf64	7c7214f7-036a-4ac9-9883-1a93d9eb6f10	g.chr22:19164192T>G	ENST00000215882.5	-	7	802	c.646A>C	c.(646-648)Aag>Cag	p.K216Q	SLC25A1_ENST00000461267.1_5'UTR|SLC25A1_ENST00000451283.1_Missense_Mutation_p.K113Q	NM_005984.3	NP_005975.1	P53007	TXTP_HUMAN	solute carrier family 25 (mitochondrial carrier; citrate transporter), member 1	216					gluconeogenesis|long-chain fatty-acyl-CoA biosynthetic process|mitochondrial citrate transport|triglyceride biosynthetic process	integral to membrane|mitochondrial inner membrane	citrate transmembrane transporter activity|protein binding			cervix(1)|lung(1)	2	Colorectal(54;0.0993)	all_lung(157;9.94e-09)		Lung(27;0.124)		TTCATGGGCTTGTTGGGGTTG	0.592													11	21					0	0	1	0	0	G	19164192	T	G	19164192	3	3	251	1	0	0	0	0	1	0	0	0	14526	1821	63	5	301	5	SLC25A1	22	19164192	Missense_Mutation	SNP	T	TCGA-HT-7606-01A-11D-2086-08		19164192	32140374	33	27158											
SHROOM4	57477	broad.mit.edu	37	X	50350672	50350674	+	In_Frame_Del	DEL	TCT	TCT	-	rs3747282	byFrequency	TCGA-HT-7606-01A-11D-2086-08	TCGA-HT-7606-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9734311d-3183-459b-8200-7104fba3bf64	7c7214f7-036a-4ac9-9883-1a93d9eb6f10	g.chrX:50350672_50350674delTCT	ENST00000376020.2	-	6	3493_3495	c.3468_3470delAGA	c.(3466-3471)gaagag>gag	p.1156_1157EE>E	SHROOM4_ENST00000460112.3_In_Frame_Del_p.1040_1041EE>E|SHROOM4_ENST00000289292.7_In_Frame_Del_p.1156_1157EE>E	NM_020717.3	NP_065768.2	Q9ULL8	SHRM4_HUMAN	shroom family member 4	1156	Glu-rich.				actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding	p.E1156E(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					TGGCAGctcctcttcctcctcct	0.557													3	6	---	---	---	---						-	50350674	TCT	-	50350672	7	5	251	1	0	1	0	1	0	0	0	0	14351	1551	54	0	1027	0	SHROOM4	23	50350672	In_Frame_Del	DEL	TCT	TCGA-HT-7606-01A-11D-2086-08		50350672	104919888	34	27159											
GSPT2	23708	broad.mit.edu	37	X	51488448	51488448	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7606-01A-11D-2086-08	TCGA-HT-7606-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9734311d-3183-459b-8200-7104fba3bf64	7c7214f7-036a-4ac9-9883-1a93d9eb6f10	g.chrX:51488448G>A	ENST00000340438.4	+	1	1968	c.1726G>A	c.(1726-1728)Gtg>Atg	p.V576M		NM_018094.4	NP_060564.2	Q8IYD1	ERF3B_HUMAN	G1 to S phase transition 2	576					cell cycle|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|translational termination	cytoplasm	GTP binding|GTPase activity|protein binding			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20	Ovarian(276;0.236)					ACCCCGCTTCGTGAAACAAGA	0.418													20	15					0	0	1	0	0	A	51488448	G	A	51488448	3	1	251	1	0	0	0	0	1	0	0	0	6868	1145	40	1	1728	1	GSPT2	23	51488448	Missense_Mutation	SNP	G	TCGA-HT-7606-01A-11D-2086-08	1137776	51488448	103782112	35	27160											
ZCCHC5	203430	broad.mit.edu	37	X	77912924	77912924	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-7606-01A-11D-2086-08	TCGA-HT-7606-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9734311d-3183-459b-8200-7104fba3bf64	7c7214f7-036a-4ac9-9883-1a93d9eb6f10	g.chrX:77912924G>T	ENST00000321110.1	-	2	1289	c.994C>A	c.(994-996)Ctc>Atc	p.L332I		NM_152694.2	NP_689907.1	Q8N8U3	ZCHC5_HUMAN	zinc finger, CCHC domain containing 5	332							nucleic acid binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1)	37						CCTTGGCAGAGTTGATGGATG	0.463													9	18					2.74318e-10	2.95419e-10	1	1	0	T	77912924	G	T	77912924	3	4	251	1	0	0	0	0	1	0	0	0	17649	1029	36	4	437	4	ZCCHC5	23	77912924	Missense_Mutation	SNP	G	TCGA-HT-7606-01A-11D-2086-08	26424476	77912924	77357636	36	27161											
RBM41	55285	broad.mit.edu	37	X	106331986	106331986	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HT-7606-01A-11D-2086-08	TCGA-HT-7606-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9734311d-3183-459b-8200-7104fba3bf64	7c7214f7-036a-4ac9-9883-1a93d9eb6f10	g.chrX:106331986delC	ENST00000372487.1	-	5	633	c.607delG	c.(607-609)gaafs	p.E204fs	RBM41_ENST00000372479.3_Frame_Shift_Del_p.E204fs|RBM41_ENST00000203616.8_Frame_Shift_Del_p.E228fs	NM_001171080.1	NP_001164551.1	Q96IZ5	RBM41_HUMAN	RNA binding motif protein 41	204							nucleotide binding|RNA binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	13						TGAAACTCTTCAAGACGTTTT	0.428													15	27	---	---	---	---						-	106331986	C	-	106331986	7	5	251	1	0	1	0	1	0	0	0	0	13187	835	29	0	655	0	RBM41	23	106331986	Frame_Shift_Del	DEL	C	TCGA-HT-7606-01A-11D-2086-08	28419062	106331986	48938574	37	27162											
PHF13	148479	broad.mit.edu	37	1	6681634	6681634	+	Silent	SNP	C	C	G			TCGA-HT-7607-01A-11D-2086-08	TCGA-HT-7607-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3	fc524be3-8c05-4dda-ab66-c466d0c2d64f	g.chr1:6681634C>G	ENST00000377648.4	+	4	1222	c.840C>G	c.(838-840)tcC>tcG	p.S280S	PHF13_ENST00000495385.1_Intron	NM_153812.2	NP_722519.2	Q86YI8	PHF13_HUMAN	PHD finger protein 13	280					cell division|chromatin modification|mitotic chromosome condensation	nucleoplasm	chromatin binding|methylated histone residue binding|zinc ion binding			endometrium(3)|large_intestine(1)|lung(3)	7	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;1.46e-33)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.19e-07)|COAD - Colon adenocarcinoma(227;1.3e-05)|Kidney(185;4.88e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000501)|KIRC - Kidney renal clear cell carcinoma(229;0.000871)|STAD - Stomach adenocarcinoma(132;0.0165)|READ - Rectum adenocarcinoma(331;0.0642)		GCCGGGACTCCAAGTTTGACA	0.577													16	68					0	0	1	0	0	G	6681634	C	G	6681634	2	3	252	1	0	0	0	0	0	0	0	1	11872	581	21	5		5	PHF13	1	6681634	Silent	SNP	C	TCGA-HT-7607-01A-11D-2086-08		6681634	242568987	1	27163											
CLDN19	149461	broad.mit.edu	37	1	43204166	43204166	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7607-01A-11D-2086-08	TCGA-HT-7607-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3	fc524be3-8c05-4dda-ab66-c466d0c2d64f	g.chr1:43204166G>A	ENST00000539749.1	-	2	504	c.314C>T	c.(313-315)aCg>aTg	p.T105M	CLDN19_ENST00000296387.1_Missense_Mutation_p.T105M|CLDN19_ENST00000372539.3_Missense_Mutation_p.T105M	NM_001185117.1	NP_001172046.1	Q8N6F1	CLD19_HUMAN	claudin 19	105					calcium-independent cell-cell adhesion|response to stimulus|visual perception	basolateral plasma membrane|integral to membrane|tight junction	identical protein binding			breast(2)|large_intestine(1)|lung(2)|skin(1)	6	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				TCCCACCCGCGTACACTTCAT	0.637													3	46					0	0	1	0	0	A	43204166	G	A	43204166	3	1	252	1	0	0	0	0	1	0	0	0	3503	1145	40	1	492	1	CLDN19	1	43204166	Missense_Mutation	SNP	G	TCGA-HT-7607-01A-11D-2086-08	36522532	43204166	206046455	2	27164											
C1orf106	55765	broad.mit.edu	37	1	200880683	200880683	+	Silent	SNP	C	C	T			TCGA-HT-7607-01A-11D-2086-08	TCGA-HT-7607-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3	fc524be3-8c05-4dda-ab66-c466d0c2d64f	g.chr1:200880683C>T	ENST00000367342.4	+	9	1517	c.1317C>T	c.(1315-1317)ccC>ccT	p.P439P	C1orf106_ENST00000413687.2_Silent_p.P354P	NM_018265.3	NP_060735.3	Q3KP66	CA106_HUMAN	chromosome 1 open reading frame 106	439										endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(2)	21						CCTGCTTTCCCGCGACCAAGC	0.682													32	192					0	0	1	0	0	T	200880683	C	T	200880683	2	4	252	1	0	0	0	0	0	0	0	1	1993	639	23	1		1	C1orf106	1	200880683	Silent	SNP	C	TCGA-HT-7607-01A-11D-2086-08	157676517	200880683	48369938	3	27165											
UGGT1	56886	broad.mit.edu	37	2	128917277	128917277	+	Missense_Mutation	SNP	G	G	A	rs141470228	byFrequency	TCGA-HT-7607-01A-11D-2086-08	TCGA-HT-7607-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3	fc524be3-8c05-4dda-ab66-c466d0c2d64f	g.chr2:128917277G>A	ENST00000375990.3	+	23	2876	c.2473G>A	c.(2473-2475)Gcg>Acg	p.A825T	UGGT1_ENST00000259253.6_Missense_Mutation_p.A849T			Q9NYU2	UGGG1_HUMAN	UDP-glucose glycoprotein glucosyltransferase 1	849					'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding			NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						AGCTGACATTGCGGAGTTCTC	0.567													16	69					0	0	1	0	0	A	128917277	G	A	128917277	3	1	252	1	0	0	0	0	1	0	0	0	17001	1319	46	2	2635	2	UGGT1	2	128917277	Missense_Mutation	SNP	G	TCGA-HT-7607-01A-11D-2086-08		128917277	114282096	4	27166											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-HT-7607-01A-11D-2086-08	TCGA-HT-7607-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3	fc524be3-8c05-4dda-ab66-c466d0c2d64f	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	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								16	92					0	0	1	0	0	T	209113112	C	T	209113112	3	4	252	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HT-7607-01A-11D-2086-08	80195835	209113112	34086261	5	27167											
VIL1	7429	broad.mit.edu	37	2	219296838	219296838	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7607-01A-11D-2086-08	TCGA-HT-7607-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3	fc524be3-8c05-4dda-ab66-c466d0c2d64f	g.chr2:219296838G>A	ENST00000248444.5	+	12	1361	c.1273G>A	c.(1273-1275)Gac>Aac	p.D425N	VIL1_ENST00000392114.2_Missense_Mutation_p.D114N	NM_007127.2	NP_009058.2	P09327	VILI_HUMAN	villin 1	425	Core.				actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium	actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle	actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity	p.D425Y(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Renal(207;0.0474)		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CTATGGGGGCGACTGCTACCT	0.592													6	46					0	0	1	0	0	A	219296838	G	A	219296838	3	1	252	1	0	0	0	0	1	0	0	0	17224	1058	37	1	1315	1	VIL1	2	219296838	Missense_Mutation	SNP	G	TCGA-HT-7607-01A-11D-2086-08	10183726	219296838	23902535	6	27168											
SIAH2	6478	broad.mit.edu	37	3	150480449	150480451	+	In_Frame_Del	DEL	CCG	CCG	-			TCGA-HT-7607-01A-11D-2086-08	TCGA-HT-7607-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3	fc524be3-8c05-4dda-ab66-c466d0c2d64f	g.chr3:150480449_150480451delCCG	ENST00000312960.3	-	1	713_715	c.186_188delCGG	c.(184-189)ggcggg>ggg	p.62_63GG>G	SIAH2_ENST00000472885.1_Intron	NM_005067.5	NP_005058.3	O43255	SIAH2_HUMAN	siah E3 ubiquitin protein ligase 2	62					apoptosis|axon guidance|cell cycle|negative regulation of canonical Wnt receptor signaling pathway|small GTPase mediated signal transduction|ubiquitin-dependent protein catabolic process	cytosol|nucleus	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)	16			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			cgggccggccccgccgccgccgc	0.764													3	6	---	---	---	---						-	150480451	CCG	-	150480449	7	5	252	1	0	1	0	1	0	0	0	0	14355	623	22	0	794	0	SIAH2	3	150480449	In_Frame_Del	DEL	CCG	TCGA-HT-7607-01A-11D-2086-08		150480449	47541981	7	27169											
PIK3CA	5290	broad.mit.edu	37	3	178928079	178928079	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7607-01A-11D-2086-08	TCGA-HT-7607-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3	fc524be3-8c05-4dda-ab66-c466d0c2d64f	g.chr3:178928079G>A	ENST00000263967.3	+	8	1514	c.1357G>A	c.(1357-1359)Gaa>Aaa	p.E453K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	453	C2 PI3K-type.		E -> Q (in cancer; shows an increase in lipid kinase activity; may disrupt the interaction of the C2 PI3K-type domain with the iSH2 region of the p85 regulatory subunit).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E453K(11)|p.E453Q(5)|p.H450fs*9(1)|p.G451_L456>V(1)|p.P449_L455del(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TCATGGATTAGAAGATTTGCT	0.348		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			20	96					0	0	1	0	0	A	178928079	G	A	178928079	3	1	252	1	0	0	0	0	1	0	0	0	11961	943	33	2	1383	2	PIK3CA	3	178928079	Missense_Mutation	SNP	G	TCGA-HT-7607-01A-11D-2086-08	28447630	178928079	19094351	8	27170											
AHRR	57491	broad.mit.edu	37	5	413500	413500	+	Silent	SNP	G	G	A			TCGA-HT-7607-01A-11D-2086-08	TCGA-HT-7607-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3	fc524be3-8c05-4dda-ab66-c466d0c2d64f	g.chr5:413500G>A	ENST00000316418.5	+	5	449	c.405G>A	c.(403-405)acG>acA	p.T135T	AHRR_ENST00000512529.1_5'UTR|AHRR_ENST00000505113.1_Silent_p.T135T	NM_020731.4	NP_065782.2	A9YTQ3	AHRR_HUMAN	aryl-hydrocarbon receptor repressor	135	PAS.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1)	20			Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)			CAGAAGGGACGATATTTTATG	0.403													21	82					0	0	1	0	0	A	413500	G	A	413500	2	1	252	1	0	0	0	0	0	0	0	1	414	1045	37	1		1	AHRR	5	413500	Silent	SNP	G	TCGA-HT-7607-01A-11D-2086-08		413500	180501760	9	27171											
KIAA1191	57179	broad.mit.edu	37	5	175779732	175779732	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7607-01A-11D-2086-08	TCGA-HT-7607-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3	fc524be3-8c05-4dda-ab66-c466d0c2d64f	g.chr5:175779732C>T	ENST00000298569.4	-	5	760	c.227G>A	c.(226-228)aGt>aAt	p.S76N	KIAA1191_ENST00000393728.2_Intron|KIAA1191_ENST00000510164.1_Missense_Mutation_p.S76N|KIAA1191_ENST00000533553.1_Intron|KIAA1191_ENST00000393725.2_Missense_Mutation_p.S57N|RP11-843P14.2_ENST00000508187.1_RNA	NM_020444.3	NP_065177.2	Q96A73	K1191_HUMAN	KIAA1191	76							protein binding			endometrium(1)|kidney(1)|lung(2)|ovary(1)|skin(1)	6	all_cancers(89;0.00575)|Renal(175;0.000269)|Lung NSC(126;0.0105)|all_lung(126;0.0168)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Kidney(146;0.101)		GGAGGGTAGACTGGCCTCTCC	0.527													13	43					0	0	1	0	0	T	175779732	C	T	175779732	3	4	252	1	0	0	0	0	1	0	0	0	8254	565	20	2	710	2	KIAA1191	5	175779732	Missense_Mutation	SNP	C	TCGA-HT-7607-01A-11D-2086-08	175366232	175779732	5135528	10	27172											
GMPR	2766	broad.mit.edu	37	6	16295259	16295259	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7607-01A-11D-2086-08	TCGA-HT-7607-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3	fc524be3-8c05-4dda-ab66-c466d0c2d64f	g.chr6:16295259G>A	ENST00000259727.4	+	9	994	c.880G>A	c.(880-882)Gaa>Aaa	p.E294K	GMPR_ENST00000544145.1_3'UTR	NM_006877.3	NP_006868.3	P36959	GMPR1_HUMAN	guanosine monophosphate reductase	294					nucleotide metabolic process|purine base metabolic process|purine-containing compound salvage|response to cold	cytosol	GMP reductase activity|metal ion binding			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	20	Breast(50;0.0427)|Ovarian(93;0.103)	all_hematologic(90;0.0895)				TAAGACTGTGGAAGTTCCTTA	0.498													11	55					0	0	1	0	0	A	16295259	G	A	16295259	3	1	252	1	0	0	0	0	1	0	0	0	6538	1175	41	2	914	2	GMPR	6	16295259	Missense_Mutation	SNP	G	TCGA-HT-7607-01A-11D-2086-08		16295259	154819808	11	27173											
ZNF292	23036	broad.mit.edu	37	6	87965029	87965030	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-HT-7607-01A-11D-2086-08	TCGA-HT-7607-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3	fc524be3-8c05-4dda-ab66-c466d0c2d64f	g.chr6:87965029_87965030delAG	ENST00000369577.3	+	8	1725_1726	c.1682_1683delAG	c.(1681-1683)cagfs	p.Q561fs	ZNF292_ENST00000339907.4_Frame_Shift_Del_p.Q556fs	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	561					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		CGACATGCTCAGAAACATTACA	0.371													8	37	---	---	---	---						-	87965030	AG	-	87965029	7	5	252	1	0	1	0	1	0	0	0	0	17883	188	7	0	1712	0	ZNF292	6	87965029	Frame_Shift_Del	DEL	AG	TCGA-HT-7607-01A-11D-2086-08	71669770	87965029	83150038	12	27174											
WDR27	253769	broad.mit.edu	37	6	170052047	170052047	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7607-01A-11D-2086-08	TCGA-HT-7607-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3	fc524be3-8c05-4dda-ab66-c466d0c2d64f	g.chr6:170052047G>A	ENST00000333572.6	-	14	1979	c.1460C>T	c.(1459-1461)tCt>tTt	p.S487F	WDR27_ENST00000546525.1_5'UTR|WDR27_ENST00000448612.1_Missense_Mutation_p.S487F|WDR27_ENST00000423258.1_Missense_Mutation_p.S360F			A2RRH5	WDR27_HUMAN	WD repeat domain 27	457										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1)	12		Breast(66;1.53e-05)|Ovarian(120;0.216)		OV - Ovarian serous cystadenocarcinoma(33;6.48e-20)|BRCA - Breast invasive adenocarcinoma(81;3.56e-07)|GBM - Glioblastoma multiforme(31;0.00168)		CGCATAACCAGATGACCTAAC	0.428													8	28					0	0	1	0	0	A	170052047	G	A	170052047	3	1	252	1	0	0	0	0	1	0	0	0	17344	942	33	2	1161	2	WDR27	6	170052047	Missense_Mutation	SNP	G	TCGA-HT-7607-01A-11D-2086-08	82087018	170052047	1063020	13	27175											
TRRAP	8295	broad.mit.edu	37	7	98508712	98508712	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7607-01A-11D-2086-08	TCGA-HT-7607-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3	fc524be3-8c05-4dda-ab66-c466d0c2d64f	g.chr7:98508712G>A	ENST00000359863.4	+	17	2034	c.1825G>A	c.(1825-1827)Gga>Aga	p.G609R	TRRAP_ENST00000355540.3_Missense_Mutation_p.G609R|TRRAP_ENST00000446306.3_Missense_Mutation_p.G608R	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	609					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			CCAGATAGCAGGAAATGGACA	0.453													10	66					0	0	1	0	0	A	98508712	G	A	98508712	3	1	252	1	0	0	0	0	1	0	0	0	16662	1001	35	2	1887	2	TRRAP	7	98508712	Missense_Mutation	SNP	G	TCGA-HT-7607-01A-11D-2086-08		98508712	60629951	14	27176											
POT1	25913	broad.mit.edu	37	7	124499166	124499166	+	Splice_Site	SNP	C	C	A			TCGA-HT-7607-01A-11D-2086-08	TCGA-HT-7607-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3	fc524be3-8c05-4dda-ab66-c466d0c2d64f	g.chr7:124499166C>A	ENST00000357628.3	-	9	1145	c.547G>T	c.(547-549)Gta>Tta	p.V183L	POT1_ENST00000393329.1_Splice_Site_p.V52L	NM_015450.2	NP_056265.2	Q9NUX5	POTE1_HUMAN	protection of telomeres 1	183					DNA duplex unwinding|negative regulation of telomere maintenance via telomerase|positive regulation of DNA strand elongation|positive regulation of helicase activity|positive regulation of telomerase activity|positive regulation of telomere maintenance via telomerase|telomere capping|telomere formation via telomerase|telomere maintenance via telomerase	nuclear telomere cap complex|nucleoplasm	DEAD/H-box RNA helicase binding|single-stranded telomeric DNA binding|telomerase inhibitor activity	p.V183L(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47						CCATCCCATACCTGCCATAAG	0.353													8	40					1.12685e-05	1.1738e-05	1	1	0	A	124499166	C	A	124499166	5	1	252	1	0	0	0	0	0	0	1	0	12308	521	18	5	1401	5	POT1	7	124499166	Splice_Site	SNP	C	TCGA-HT-7607-01A-11D-2086-08	25990454	124499166	34639497	15	27177											
COL27A1	85301	broad.mit.edu	37	9	117050747	117050747	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7607-01A-11D-2086-08	TCGA-HT-7607-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3	fc524be3-8c05-4dda-ab66-c466d0c2d64f	g.chr9:117050747G>A	ENST00000356083.3	+	42	4391	c.4000G>A	c.(4000-4002)Gag>Aag	p.E1334K		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	1334	Collagen-like 12.|Pro-rich.|Triple-helical region.				cell adhesion		extracellular matrix structural constituent			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						GGAGCAGGGCGAGGACGGCAA	0.637													4	17					0	0	1	0	0	A	117050747	G	A	117050747	3	1	252	1	0	0	0	0	1	0	0	0	3708	1059	37	1	4166	1	COL27A1	9	117050747	Missense_Mutation	SNP	G	TCGA-HT-7607-01A-11D-2086-08		117050747	24162684	16	27178											
PDCD4	27250	broad.mit.edu	37	10	112641024	112641024	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7607-01A-11D-2086-08	TCGA-HT-7607-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3	fc524be3-8c05-4dda-ab66-c466d0c2d64f	g.chr10:112641024G>A	ENST00000393104.2	+	4	404	c.44G>A	c.(43-45)gGt>gAt	p.G15D	PDCD4_ENST00000280154.7_Missense_Mutation_p.G26D	NM_145341.3	NP_663314.1	Q53EL6	PDCD4_HUMAN	programmed cell death 4 (neoplastic transformation inhibitor)	26					apoptosis|cell aging|negative regulation of cell cycle|negative regulation of JUN kinase activity|negative regulation of transcription, DNA-dependent	cytosol|nucleus	protein binding|RNA binding			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	13		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.000526)|all cancers(201;0.00794)|BRCA - Breast invasive adenocarcinoma(275;0.125)		CTCTTTTCCGGTGATGAAGAA	0.318													19	101					0	0	1	0	0	A	112641024	G	A	112641024	3	1	252	1	0	0	0	0	1	0	0	0	11668	1261	44	2	97	2	PDCD4	10	112641024	Missense_Mutation	SNP	G	TCGA-HT-7607-01A-11D-2086-08		112641024	22893723	17	27179											
BAG3	9531	broad.mit.edu	37	10	121432114	121432114	+	Silent	SNP	G	G	A	rs147259596	byFrequency	TCGA-HT-7607-01A-11D-2086-08	TCGA-HT-7607-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3	fc524be3-8c05-4dda-ab66-c466d0c2d64f	g.chr10:121432114G>A	ENST00000369085.3	+	3	1161	c.855G>A	c.(853-855)acG>acA	p.T285T		NM_004281.3	NP_004272.2	O95817	BAG3_HUMAN	BCL2-associated athanogene 3	285					anti-apoptosis|apoptosis|protein folding	cytosol				endometrium(3)|kidney(1)|large_intestine(3)|liver(2)|lung(5)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	20		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00187)|BRCA - Breast invasive adenocarcinoma(275;0.148)		GGAGCAGCACGCCACTCCACT	0.657													7	63					0	0	1	0	0	A	121432114	G	A	121432114	2	1	252	1	0	0	0	0	0	0	0	1	1286	1074	38	1		1	BAG3	10	121432114	Silent	SNP	G	TCGA-HT-7607-01A-11D-2086-08	8791090	121432114	14102633	18	27180											
RAD51AP1	10635	broad.mit.edu	37	12	4668029	4668029	+	Missense_Mutation	SNP	C	C	T	rs140432356	byFrequency	TCGA-HT-7607-01A-11D-2086-08	TCGA-HT-7607-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3	fc524be3-8c05-4dda-ab66-c466d0c2d64f	g.chr12:4668029C>T	ENST00000228843.9	+	10	979	c.929C>T	c.(928-930)tCt>tTt	p.S310F	RAD51AP1_ENST00000544927.1_Silent_p.L224L|RAD51AP1_ENST00000321524.7_Missense_Mutation_p.S260F|RAD51AP1_ENST00000544931.1_3'UTR|RAD51AP1_ENST00000352618.4_Missense_Mutation_p.S293F|RAD51AP1_ENST00000543041.1_Missense_Mutation_p.S191F	NM_001130862.1	NP_001124334.1	Q96B01	R51A1_HUMAN	RAD51 associated protein 1	310					double-strand break repair via homologous recombination		double-stranded DNA binding|protein binding|RNA binding|single-stranded DNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)	13			Colorectal(7;0.00306)|COAD - Colon adenocarcinoma(12;0.0389)			TCAGCGGCATCTGGAGGTAGC	0.418													11	60					0	0	1	0	0	T	4668029	C	T	4668029	3	4	252	1	0	0	0	0	1	0	0	0	13038	913	32	2	967	2	RAD51AP1	12	4668029	Missense_Mutation	SNP	C	TCGA-HT-7607-01A-11D-2086-08		4668029	129183866	19	27181											
PA2G4	5036	broad.mit.edu	37	12	56504773	56504773	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7607-01A-11D-2086-08	TCGA-HT-7607-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3	fc524be3-8c05-4dda-ab66-c466d0c2d64f	g.chr12:56504773C>T	ENST00000303305.6	+	10	1287	c.868C>T	c.(868-870)Cgg>Tgg	p.R290W	PA2G4_ENST00000552766.1_Intron|RP11-603J24.17_ENST00000548595.1_RNA	NM_006191.2	NP_006182.2	Q9UQ80	PA2G4_HUMAN	proliferation-associated 2G4, 38kDa	290					cell cycle arrest|cell proliferation|negative regulation of transcription, DNA-dependent|regulation of translation|rRNA processing	cytoplasm|nucleolus|ribonucleoprotein complex	DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|ubiquitin protein ligase binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(18;0.0739)			GAAGAAGGCTCGGATGGGTGT	0.418													13	46					0	0	1	0	0	T	56504773	C	T	56504773	3	4	252	1	0	0	0	0	1	0	0	0	11408	875	31	1	906	1	PA2G4	12	56504773	Missense_Mutation	SNP	C	TCGA-HT-7607-01A-11D-2086-08	51836744	56504773	77347122	20	27182											
ING1	3621	broad.mit.edu	37	13	111372025	111372025	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HT-7607-01A-11D-2086-08	TCGA-HT-7607-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3	fc524be3-8c05-4dda-ab66-c466d0c2d64f	g.chr13:111372025C>T	ENST00000375774.3	+	2	1477	c.1015C>T	c.(1015-1017)Cga>Tga	p.R339*	ING1_ENST00000338450.7_Nonsense_Mutation_p.R152*|ING1_ENST00000375775.3_Nonsense_Mutation_p.R127*|ING1_ENST00000333219.7_Nonsense_Mutation_p.R196*	NM_005537.4	NP_005528.3	Q9UK53	ING1_HUMAN	inhibitor of growth family, member 1	339					cell cycle|negative regulation of cell growth|negative regulation of cell proliferation	nucleus	zinc ion binding	p.R196*(3)|p.R339*(1)|p.R152*(1)		endometrium(4)|large_intestine(6)|lung(1)|ovary(1)	12	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.188)			CAAGGCGGAGCGAGAGGCGTC	0.627													13	39					0	0	1	0	0	T	111372025	C	T	111372025	4	4	252	1	0	0	0	0	0	1	0	0	7779	760	27	1	1169	1	ING1	13	111372025	Nonsense_Mutation	SNP	C	TCGA-HT-7607-01A-11D-2086-08		111372025	3797853	21	27183											
MAX	4149	broad.mit.edu	37	14	65544747	65544747	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7607-01A-11D-2086-08	TCGA-HT-7607-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3	fc524be3-8c05-4dda-ab66-c466d0c2d64f	g.chr14:65544747C>T	ENST00000284165.6	-	4	327	c.179G>A	c.(178-180)cGg>cAg	p.R60Q	MAX_ENST00000555667.1_Missense_Mutation_p.R51Q|MAX_ENST00000555932.1_Intron|MAX_ENST00000556443.1_Missense_Mutation_p.R51Q|MAX_ENST00000557746.1_Missense_Mutation_p.R51Q|MAX_ENST00000341653.2_Intron|MAX_ENST00000555419.1_Missense_Mutation_p.R24Q|MAX_ENST00000358402.4_Missense_Mutation_p.R51Q|MAX_ENST00000556979.1_Missense_Mutation_p.R60Q|MAX_ENST00000358664.4_Missense_Mutation_p.R60Q|MAX_ENST00000557277.1_5'UTR	NM_145113.2	NP_660088.1	P61244	MAX_HUMAN	MYC associated factor X	60	Helix-loop-helix motif.				transcription from RNA polymerase II promoter	cytoplasm|MLL1 complex	sequence-specific DNA binding transcription factor activity|transcription coactivator activity	p.R60Q(5)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	17				all cancers(60;0.000776)|OV - Ovarian serous cystadenocarcinoma(108;0.00359)|BRCA - Breast invasive adenocarcinoma(234;0.00999)		GATTTGGGCCCGGGATGCCTG	0.498													19	60					0	0	1	0	0	T	65544747	C	T	65544747	3	4	252	1	0	0	0	0	1	0	0	0	9389	652	23	1	527	1	MAX	14	65544747	Missense_Mutation	SNP	C	TCGA-HT-7607-01A-11D-2086-08		65544747	41804793	22	27184											
HCN4	10021	broad.mit.edu	37	15	73616140	73616140	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7607-01A-11D-2086-08	TCGA-HT-7607-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3	fc524be3-8c05-4dda-ab66-c466d0c2d64f	g.chr15:73616140G>A	ENST00000261917.3	-	8	3287	c.2294C>T	c.(2293-2295)gCc>gTc	p.A765V		NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 4	765					blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		GGTTGGGGTGGCAGAGGCAGC	0.647													11	58					0	0	1	0	0	A	73616140	G	A	73616140	3	1	252	1	0	0	0	0	1	0	0	0	7040	1203	42	2	1321	2	HCN4	15	73616140	Missense_Mutation	SNP	G	TCGA-HT-7607-01A-11D-2086-08		73616140	28915252	23	27185											
ACAN	176	broad.mit.edu	37	15	89400165	89400165	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-7607-01A-11D-2086-08	TCGA-HT-7607-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3	fc524be3-8c05-4dda-ab66-c466d0c2d64f	g.chr15:89400165G>T	ENST00000439576.2	+	12	4723	c.4349G>T	c.(4348-4350)gGg>gTg	p.G1450V	ACAN_ENST00000561243.1_Missense_Mutation_p.G1450V|ACAN_ENST00000352105.7_Missense_Mutation_p.G1450V|ACAN_ENST00000559004.1_Missense_Mutation_p.G1450V	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	1450					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			GAGATCAGCGGGCTTCCTTCT	0.512													29	115					5.90632e-09	6.28332e-09	1	1	0	T	89400165	G	T	89400165	3	4	252	1	0	0	0	0	1	0	0	0	117	1232	43	5	4391	5	ACAN	15	89400165	Missense_Mutation	SNP	G	TCGA-HT-7607-01A-11D-2086-08	15784025	89400165	13131227	24	27186											
ZP2	7783	broad.mit.edu	37	16	21214448	21214448	+	Missense_Mutation	SNP	A	A	G	rs142277591		TCGA-HT-7607-01A-11D-2086-08	TCGA-HT-7607-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3	fc524be3-8c05-4dda-ab66-c466d0c2d64f	g.chr16:21214448A>G	ENST00000574002.1	-	11	1579	c.1097T>C	c.(1096-1098)aTa>aCa	p.I366T	AF001550.7_ENST00000572747.1_RNA|ZP2_ENST00000219593.4_Missense_Mutation_p.I366T|ZP2_ENST00000574091.1_Missense_Mutation_p.I366T			Q05996	ZP2_HUMAN	zona pellucida glycoprotein 2 (sperm receptor)	366					binding of sperm to zona pellucida|intracellular protein transport	endoplasmic reticulum|Golgi apparatus|integral to membrane|multivesicular body|plasma membrane|proteinaceous extracellular matrix|stored secretory granule	acrosin binding|coreceptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(16)|ovary(1)|prostate(1)|stomach(1)	41				GBM - Glioblastoma multiforme(48;0.0573)		GTCTTTACCTATAGAAACGGG	0.418													12	47					0	0	1	0	0	G	21214448	A	G	21214448	3	3	252	1	0	0	0	0	1	0	0	0	18258	449	16	3	1180	3	ZP2	16	21214448	Missense_Mutation	SNP	A	TCGA-HT-7607-01A-11D-2086-08		21214448	69140305	25	27187											
PLEKHM1	9842	broad.mit.edu	37	17	43545910	43545910	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7607-01A-11D-2086-08	TCGA-HT-7607-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3	fc524be3-8c05-4dda-ab66-c466d0c2d64f	g.chr17:43545910C>T	ENST00000430334.3	-	5	1106	c.973G>A	c.(973-975)Gga>Aga	p.G325R	PLEKHM1_ENST00000421073.2_Missense_Mutation_p.G236R	NM_014798.2	NP_055613.1	Q9Y4G2	PKHM1_HUMAN	pleckstrin homology domain containing, family M (with RUN domain) member 1	325					intracellular signal transduction	cytoplasm	metal ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26	Renal(3;0.0405)					TGGCTCAGTCCGTTGGTTGGC	0.517													9	65					0	0	1	0	0	T	43545910	C	T	43545910	3	4	252	1	0	0	0	0	1	0	0	0	12128	661	23	1	2229	1	PLEKHM1	17	43545910	Missense_Mutation	SNP	C	TCGA-HT-7607-01A-11D-2086-08		43545910	37649300	26	27188											
MPPED1	758	broad.mit.edu	37	22	43821094	43821094	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7607-01A-11D-2086-08	TCGA-HT-7607-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3	fc524be3-8c05-4dda-ab66-c466d0c2d64f	g.chr22:43821094G>A	ENST00000417669.2	+	2	547	c.103G>A	c.(103-105)Gct>Act	p.A35T	MPPED1_ENST00000439548.1_Intron|MPPED1_ENST00000542779.1_Missense_Mutation_p.A35T|MPPED1_ENST00000443721.1_Missense_Mutation_p.A35T|MPPED1_ENST00000414469.2_Intron|MPPED1_ENST00000538182.1_Missense_Mutation_p.A68T			O15442	MPPD1_HUMAN	metallophosphoesterase domain containing 1								hydrolase activity			endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|skin(1)	13		all_neural(38;0.0244)|Ovarian(80;0.0694)				CGTGATGGCCGCTCGGCGGCA	0.662													3	59					0	0	1	0	0	A	43821094	G	A	43821094	3	1	252	1	0	0	0	0	1	0	0	0	9790	1087	38	1	105	1	MPPED1	22	43821094	Missense_Mutation	SNP	G	TCGA-HT-7607-01A-11D-2086-08		43821094	7483472	27	27189											
NLGN4X	57502	broad.mit.edu	37	X	5811260	5811260	+	Silent	SNP	C	C	T			TCGA-HT-7607-01A-11D-2086-08	TCGA-HT-7607-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3	fc524be3-8c05-4dda-ab66-c466d0c2d64f	g.chrX:5811260C>T	ENST00000381095.3	-	6	2676	c.2049G>A	c.(2047-2049)gcG>gcA	p.A683A	NLGN4X_ENST00000381092.1_Silent_p.A683A|NLGN4X_ENST00000275857.6_Silent_p.A683A|NLGN4X_ENST00000538097.1_Silent_p.A683A|NLGN4X_ENST00000381093.2_Silent_p.A703A	NM_001282145.1|NM_001282146.1|NM_181332.1	NP_001269074.1|NP_001269075.1|NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	683					brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity			breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						AGAGGAGCGACGCCCCGACGG	0.522													23	92					0	0	1	0	0	T	5811260	C	T	5811260	2	4	252	1	0	0	0	0	0	0	0	1	10511	523	19	1		1	NLGN4X	23	5811260	Silent	SNP	C	TCGA-HT-7607-01A-11D-2086-08		5811260	149459300	28	27190											
FRMPD4	9758	broad.mit.edu	37	X	12720061	12720061	+	Silent	SNP	C	C	T			TCGA-HT-7607-01A-11D-2086-08	TCGA-HT-7607-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3	fc524be3-8c05-4dda-ab66-c466d0c2d64f	g.chrX:12720061C>T	ENST00000380682.1	+	10	1508	c.1002C>T	c.(1000-1002)gcC>gcT	p.A334A		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	334	FERM.				positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						TGCGGCTGGCCGCATTACAAA	0.507											OREG0019670	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	32	126					0	0	1	0	0	T	12720061	C	T	12720061	2	4	252	1	0	0	0	0	0	0	0	1	6094	639	23	1		1	FRMPD4	23	12720061	Silent	SNP	C	TCGA-HT-7607-01A-11D-2086-08	6908801	12720061	142550499	29	27191											
OFD1	8481	broad.mit.edu	37	X	13786333	13786333	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7607-01A-11D-2086-08	TCGA-HT-7607-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3	fc524be3-8c05-4dda-ab66-c466d0c2d64f	g.chrX:13786333C>T	ENST00000380567.1	+	22	3370	c.2498C>T	c.(2497-2499)tCg>tTg	p.S833L	OFD1_ENST00000380550.3_Missense_Mutation_p.S933L|OFD1_ENST00000490265.1_3'UTR|OFD1_ENST00000340096.6_Missense_Mutation_p.S973L			O75665	OFD1_HUMAN	oral-facial-digital syndrome 1	973	Mediates the interaction with SDCCAG8.				cilium movement involved in determination of left/right asymmetry|G2/M transition of mitotic cell cycle	centriole|cilium|cytosol|microtubule basal body|nuclear membrane	alpha-tubulin binding|gamma-tubulin binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	25						GACCAGGAGTCGGCAGATAAG	0.478													15	89					0	0	1	0	0	T	13786333	C	T	13786333	3	4	252	1	0	0	0	0	1	0	0	0	10886	893	31	1	3000	1	OFD1	23	13786333	Missense_Mutation	SNP	C	TCGA-HT-7607-01A-11D-2086-08	1066272	13786333	141484227	30	27192											
PHF6	84295	broad.mit.edu	37	X	133527974	133527974	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7607-01A-11D-2086-08	TCGA-HT-7607-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3	fc524be3-8c05-4dda-ab66-c466d0c2d64f	g.chrX:133527974A>G	ENST00000332070.3	+	5	612	c.410A>G	c.(409-411)aAc>aGc	p.N137S	PHF6_ENST00000416404.2_Missense_Mutation_p.N103S|PHF6_ENST00000370803.3_Missense_Mutation_p.N137S|PHF6_ENST00000394292.1_Missense_Mutation_p.N137S|PHF6_ENST00000370800.4_Missense_Mutation_p.N137S|PHF6_ENST00000370799.1_Missense_Mutation_p.N137S	NM_032458.2	NP_115834.1	Q8IWS0	PHF6_HUMAN	PHD finger protein 6	137					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	zinc ion binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(88)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|ovary(1)|skin(1)|urinary_tract(1)	103	Acute lymphoblastic leukemia(192;0.000127)					ACTGCACATAACTCCGAAGGT	0.294			"F, N, Splice, Mis"		ETP ALL								4	70					0	0	1	0	0	G	133527974	A	G	133527974	3	3	252	1	0	0	0	0	1	0	0	0	11886	43	2	3	424	3	PHF6	23	133527974	Missense_Mutation	SNP	A	TCGA-HT-7607-01A-11D-2086-08	119741641	133527974	21742586	31	27193											
GABRA3	2556	broad.mit.edu	37	X	151532994	151532994	+	Missense_Mutation	SNP	G	G	C			TCGA-HT-7607-01A-11D-2086-08	TCGA-HT-7607-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3	fc524be3-8c05-4dda-ab66-c466d0c2d64f	g.chrX:151532994G>C	ENST00000370314.4	-	2	287	c.49C>G	c.(49-51)Ctt>Gtt	p.L17V	GABRA3_ENST00000535043.1_Missense_Mutation_p.L17V	NM_000808.3	NP_000799.1	P34903	GBRA3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 3	17					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding	p.L17I(1)		breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(6)	37	Acute lymphoblastic leukemia(192;6.56e-05)				Alprazolam(DB00404)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	ATCAGGAAAAGAATCCCAAGG	0.453													30	127					0	0	1	0	0	C	151532994	G	C	151532994	3	2	252	1	0	0	0	0	1	0	0	0	6197	942	33	4	1465	4	GABRA3	23	151532994	Missense_Mutation	SNP	G	TCGA-HT-7607-01A-11D-2086-08	18005020	151532994	3737566	32	27194											
HCFC1	3054	broad.mit.edu	37	X	153228837	153228837	+	Missense_Mutation	SNP	A	A	C			TCGA-HT-7607-01A-11D-2086-08	TCGA-HT-7607-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3	fc524be3-8c05-4dda-ab66-c466d0c2d64f	g.chrX:153228837A>C	ENST00000310441.7	-	4	1517	c.551T>G	c.(550-552)gTg>gGg	p.V184G	HCFC1_ENST00000369984.4_Missense_Mutation_p.V184G|HCFC1_ENST00000354233.3_Missense_Mutation_p.V184G	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1 (VP16-accessory protein)	184					cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCAGGCTACCACTCCAGAGCC	0.522													13	61					0	0	1	0	0	C	153228837	A	C	153228837	3	2	252	1	0	0	0	0	1	0	0	0	7032	159	6	5	5648	5	HCFC1	23	153228837	Missense_Mutation	SNP	A	TCGA-HT-7607-01A-11D-2086-08	1695843	153228837	2041723	33	27195											
FUBP1	8880	broad.mit.edu	37	1	78422268	78422269	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HT-7608-01A-11D-2086-08	TCGA-HT-7608-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a5c656-38cc-4852-ac49-3a7ca6d164a0	1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6	g.chr1:78422268_78422269insT	ENST00000370767.1	-	17	1780_1781	c.1693_1694insA	c.(1693-1695)actfs	p.T565fs	FUBP1_ENST00000370768.2_Frame_Shift_Ins_p.T565fs|FUBP1_ENST00000436586.2_Frame_Shift_Ins_p.T586fs			Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1	565					transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						TTGTCCATTAGTTTGAGTTGTA	0.406			"F, N"		oligodendroglioma								54	41	---	---	---	---						T	78422269	-	T	78422268	7	5	253	1	0	1	1	0	0	0	0	0	6127	1029	36	0	256	0	FUBP1	1	78422268	Frame_Shift_Ins	INS	-	TCGA-HT-7608-01A-11D-2086-08		78422268	170828353	1	27196											
LMNA	4000	broad.mit.edu	37	1	156104684	156104684	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7608-01A-11D-2086-08	TCGA-HT-7608-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a5c656-38cc-4852-ac49-3a7ca6d164a0	1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6	g.chr1:156104684A>G	ENST00000368300.4	+	4	940	c.728A>G	c.(727-729)gAt>gGt	p.D243G	LMNA_ENST00000496738.1_3'UTR|LMNA_ENST00000473598.2_Missense_Mutation_p.D144G|LMNA_ENST00000368299.3_Missense_Mutation_p.D243G|LMNA_ENST00000347559.2_Missense_Mutation_p.D243G|LMNA_ENST00000448611.2_Missense_Mutation_p.D131G|LMNA_ENST00000392353.3_Missense_Mutation_p.D162G|LMNA_ENST00000368297.1_Missense_Mutation_p.D162G|LMNA_ENST00000368301.2_Missense_Mutation_p.D243G|LMNA_ENST00000361308.4_Missense_Mutation_p.D243G	NM_170707.3	NP_733821.1	P02545	LMNA_HUMAN	lamin A/C	243	Coil 2.|Rod.				cellular component disassembly involved in apoptosis|cellular response to hypoxia|establishment or maintenance of microtubule cytoskeleton polarity|muscle organ development|positive regulation of cell aging|regulation of apoptosis|regulation of cell migration	cytoplasm|lamin filament|nuclear envelope|perinuclear region of cytoplasm	protein binding|structural molecule activity			NS(1)|endometrium(1)|kidney(1)|lung(3)|ovary(4)	10	Hepatocellular(266;0.158)					CGGCTGGCGGATGCGCTGCAG	0.582									Werner syndrome;Hutchinson-Gilford Progeria Syndrome				19	77					0	0	1	0	0	G	156104684	A	G	156104684	3	3	253	1	0	0	0	0	1	0	0	0	8889	333	12	3	742	3	LMNA	1	156104684	Missense_Mutation	SNP	A	TCGA-HT-7608-01A-11D-2086-08	77682416	156104684	93145937	2	27197											
C1orf65	164127	broad.mit.edu	37	1	223567391	223567391	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7608-01A-11D-2086-08	TCGA-HT-7608-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a5c656-38cc-4852-ac49-3a7ca6d164a0	1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6	g.chr1:223567391C>T	ENST00000366875.3	+	1	677	c.574C>T	c.(574-576)Cgg>Tgg	p.R192W		NM_152610.2	NP_689823.2	Q8N715	CA065_HUMAN	chromosome 1 open reading frame 65	192										breast(4)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|skin(3)	29				GBM - Glioblastoma multiforme(131;0.0704)		TCCCTCGGAGCGGTCTTCTGT	0.597													53	71					0	0	1	0	0	T	223567391	C	T	223567391	3	4	253	1	0	0	0	0	1	0	0	0	2069	759	27	1	576	1	C1orf65	1	223567391	Missense_Mutation	SNP	C	TCGA-HT-7608-01A-11D-2086-08	67462707	223567391	25683230	3	27198											
BIRC6	57448	broad.mit.edu	37	2	32706407	32706407	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HT-7608-01A-11D-2086-08	TCGA-HT-7608-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a5c656-38cc-4852-ac49-3a7ca6d164a0	1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6	g.chr2:32706407delT	ENST00000421745.2	+	38	7562	c.7428delT	c.(7426-7428)tctfs	p.S2476fs		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	2476					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					CTCTGTCCTCTTTGGAAAAAG	0.333													10	105	---	---	---	---						-	32706407	T	-	32706407	7	5	253	1	0	1	0	1	0	0	0	0	1437	1596	56	0	7578	0	BIRC6	2	32706407	Frame_Shift_Del	DEL	T	TCGA-HT-7608-01A-11D-2086-08		32706407	210492966	4	27199											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-HT-7608-01A-11D-2086-08	TCGA-HT-7608-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a5c656-38cc-4852-ac49-3a7ca6d164a0	1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								30	60					0	0	1	0	0	T	209113112	C	T	209113112	3	4	253	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HT-7608-01A-11D-2086-08	176406705	209113112	34086261	5	27200											
TIGIT	201633	broad.mit.edu	37	3	114026861	114026861	+	Silent	SNP	A	A	G			TCGA-HT-7608-01A-11D-2086-08	TCGA-HT-7608-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a5c656-38cc-4852-ac49-3a7ca6d164a0	1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6	g.chr3:114026861A>G	ENST00000481065.1	+	5	3434	c.819A>G	c.(817-819)gcA>gcG	p.A273A	TIGIT_ENST00000383671.3_Silent_p.A206A|TIGIT_ENST00000496848.1_3'UTR|TIGIT_ENST00000486257.1_Silent_p.A206A			Q495A1	TIGIT_HUMAN	T cell immunoreceptor with Ig and ITIM domains	206					negative regulation of interleukin-12 production|negative regulation of T cell activation|positive regulation of interleukin-10 production	cell surface|integral to membrane|plasma membrane	protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|prostate(1)	17						CAGAAGCTGCACCTGCTGGGC	0.572													42	83					0	0	1	0	0	G	114026861	A	G	114026861	2	3	253	1	0	0	0	0	0	0	0	1	15962	146	6	3		3	TIGIT	3	114026861	Silent	SNP	A	TCGA-HT-7608-01A-11D-2086-08		114026861	83995569	6	27201											
ZBTB20	26137	broad.mit.edu	37	3	114058211	114058211	+	Missense_Mutation	SNP	T	T	G			TCGA-HT-7608-01A-11D-2086-08	TCGA-HT-7608-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a5c656-38cc-4852-ac49-3a7ca6d164a0	1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6	g.chr3:114058211T>G	ENST00000462705.1	-	12	2469	c.1648A>C	c.(1648-1650)Aag>Cag	p.K550Q	ZBTB20_ENST00000481632.1_Missense_Mutation_p.K550Q|ZBTB20_ENST00000474710.1_Missense_Mutation_p.K623Q|ZBTB20_ENST00000464560.1_Missense_Mutation_p.K550Q|ZBTB20_ENST00000357258.3_Missense_Mutation_p.K550Q|ZBTB20_ENST00000471418.1_Missense_Mutation_p.K550Q|ZBTB20_ENST00000393785.2_Missense_Mutation_p.K550Q	NM_001164343.1	NP_001157815.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	623					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		ACCATGTGCTTGATAAGGTAA	0.527													4	96					0	0	1	0	0	G	114058211	T	G	114058211	3	3	253	1	0	0	0	0	1	0	0	0	17588	1821	63	5	362	5	ZBTB20	3	114058211	Missense_Mutation	SNP	T	TCGA-HT-7608-01A-11D-2086-08	31350	114058211	83964219	7	27202											
MUC13	56667	broad.mit.edu	37	3	124632003	124632003	+	Missense_Mutation	SNP	G	G	A	rs148368651		TCGA-HT-7608-01A-11D-2086-08	TCGA-HT-7608-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a5c656-38cc-4852-ac49-3a7ca6d164a0	1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6	g.chr3:124632003G>A	ENST00000311075.3	-	8	1204	c.1166C>T	c.(1165-1167)gCg>gTg	p.A389V		NM_033049.3	NP_149038	Q9H3R2	MUC13_HUMAN	mucin 13, cell surface associated	389	EGF-like 3.					extracellular region|integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)|stomach(1)	18						GGGCACGCACGCACACTCAGG	0.478													3	54					0	0	1	0	0	A	124632003	G	A	124632003	3	1	253	1	0	0	0	0	1	0	0	0	10019	1087	38	1	385	1	MUC13	3	124632003	Missense_Mutation	SNP	G	TCGA-HT-7608-01A-11D-2086-08	10573792	124632003	73390427	8	27203											
OTOP1	133060	broad.mit.edu	37	4	4199681	4199681	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7608-01A-11D-2086-08	TCGA-HT-7608-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a5c656-38cc-4852-ac49-3a7ca6d164a0	1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6	g.chr4:4199681G>A	ENST00000296358.4	-	5	904	c.880C>T	c.(880-882)Cgc>Tgc	p.R294C		NM_177998.1	NP_819056.1	Q7RTM1	OTOP1_HUMAN	otopetrin 1	294					biomineral tissue development	extracellular space|integral to membrane		p.R294C(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		TCAACTTTGCGCCCGATGTTC	0.567													29	71					0	0	1	0	0	A	4199681	G	A	4199681	3	1	253	1	0	0	0	0	1	0	0	0	11352	1087	38	1	966	1	OTOP1	4	4199681	Missense_Mutation	SNP	G	TCGA-HT-7608-01A-11D-2086-08		4199681	186954595	9	27204											
SLC34A2	10568	broad.mit.edu	37	4	25677957	25677957	+	Silent	SNP	G	G	A			TCGA-HT-7608-01A-11D-2086-08	TCGA-HT-7608-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a5c656-38cc-4852-ac49-3a7ca6d164a0	1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6	g.chr4:25677957G>A	ENST00000382051.3	+	13	1709	c.1659G>A	c.(1657-1659)cgG>cgA	p.R553R	SLC34A2_ENST00000504570.1_Silent_p.R552R|SLC34A2_ENST00000503434.1_Silent_p.R552R	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415	O95436	NPT2B_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 2	553					cellular phosphate ion homeostasis	apical plasma membrane|brush border membrane|integral to plasma membrane	phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity		SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				CCGGCTGGCGGGTGCTGGTTG	0.597			T	ROS1	NSCLC								6	145					0	0	1	0	0	A	25677957	G	A	25677957	2	1	253	1	0	0	0	0	0	0	0	1	14623	1219	43	2		2	SLC34A2	4	25677957	Silent	SNP	G	TCGA-HT-7608-01A-11D-2086-08	21478276	25677957	165476319	10	27205											
UGT2B28	54490	broad.mit.edu	37	4	70146857	70146857	+	Silent	SNP	C	C	T			TCGA-HT-7608-01A-11D-2086-08	TCGA-HT-7608-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a5c656-38cc-4852-ac49-3a7ca6d164a0	1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6	g.chr4:70146857C>T	ENST00000335568.5	+	1	641	c.639C>T	c.(637-639)aaC>aaT	p.N213N	UGT2B28_ENST00000511240.1_Silent_p.N213N	NM_053039.1	NP_444267.1	Q9BY64	UDB28_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B28	213					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31					Flunitrazepam(DB01544)	GGGTAAAAAACATGATCTATG	0.348													4	79					0	0	1	0	0	T	70146857	C	T	70146857	2	4	253	1	0	0	0	0	0	0	0	1	17020	477	17	2		2	UGT2B28	4	70146857	Silent	SNP	C	TCGA-HT-7608-01A-11D-2086-08	44468900	70146857	121007419	11	27206											
IL17F	112744	broad.mit.edu	37	6	52103580	52103580	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7608-01A-11D-2086-08	TCGA-HT-7608-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a5c656-38cc-4852-ac49-3a7ca6d164a0	1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6	g.chr6:52103580C>T	ENST00000336123.4	-	2	309	c.202G>A	c.(202-204)Gtt>Att	p.V68I		NM_052872.3	NP_443104.1	Q96PD4	IL17F_HUMAN	interleukin 17F	68					cartilage development|inflammatory response|lymphotoxin A biosynthetic process|negative regulation of angiogenesis|proteoglycan metabolic process|regulation of granulocyte macrophage colony-stimulating factor biosynthetic process|regulation of interleukin-2 biosynthetic process|regulation of interleukin-6 biosynthetic process|regulation of interleukin-8 biosynthetic process|regulation of transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|cytokine binding|protein homodimerization activity			NS(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)	14	Lung NSC(77;0.116)					GACATGGAAACGCGCTGGTTT	0.448													26	39					0	0	1	0	0	T	52103580	C	T	52103580	3	4	253	1	0	0	0	0	1	0	0	0	7682	536	19	1	297	1	IL17F	6	52103580	Missense_Mutation	SNP	C	TCGA-HT-7608-01A-11D-2086-08		52103580	119011487	12	27207											
PTPRK	5796	broad.mit.edu	37	6	128297888	128297888	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7608-01A-11D-2086-08	TCGA-HT-7608-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a5c656-38cc-4852-ac49-3a7ca6d164a0	1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6	g.chr6:128297888A>G	ENST00000368227.3	-	28	4300	c.3934T>C	c.(3934-3936)Tat>Cat	p.Y1312H	PTPRK_ENST00000368210.3_Missense_Mutation_p.Y1313H|PTPRK_ENST00000368207.3_Missense_Mutation_p.Y1327H|PTPRK_ENST00000368215.3_Missense_Mutation_p.Y1294H|PTPRK_ENST00000368213.5_Missense_Mutation_p.Y1301H|PTPRK_ENST00000532331.1_Missense_Mutation_p.Y1317H|PTPRK_ENST00000368226.4_Missense_Mutation_p.Y1295H			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	1294	Tyrosine-protein phosphatase 2.				cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		ATGGGGCCATATCGTAGCATC	0.398													3	63					0	0	1	0	0	G	128297888	A	G	128297888	3	3	253	1	0	0	0	0	1	0	0	0	12857	449	16	3	455	3	PTPRK	6	128297888	Missense_Mutation	SNP	A	TCGA-HT-7608-01A-11D-2086-08	76194308	128297888	42817179	13	27208											
AP1S1	1174	broad.mit.edu	37	7	100799992	100799992	+	Missense_Mutation	SNP	G	G	C			TCGA-HT-7608-01A-11D-2086-08	TCGA-HT-7608-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a5c656-38cc-4852-ac49-3a7ca6d164a0	1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6	g.chr7:100799992G>C	ENST00000337619.5	+	2	239	c.121G>C	c.(121-123)Gct>Cct	p.A41P		NM_001283.3	NP_001274.1	P61966	AP1S1_HUMAN	adaptor-related protein complex 1, sigma 1 subunit	41					intracellular protein transport|post-Golgi vesicle-mediated transport|receptor-mediated endocytosis|regulation of defense response to virus by virus|response to virus|viral reproduction	AP-1 adaptor complex|coated pit|cytosol|lysosomal membrane	protein binding|protein transporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)	8	Lung NSC(181;0.168)|all_lung(186;0.215)					GGTTGTCCTGGCTCGAAAGCC	0.537													4	17					0	0	1	0	0	C	100799992	G	C	100799992	3	2	253	1	0	0	0	0	1	0	0	0	732	1203	42	5	127	5	AP1S1	7	100799992	Missense_Mutation	SNP	G	TCGA-HT-7608-01A-11D-2086-08		100799992	58338671	14	27209											
KCNK18	338567	broad.mit.edu	37	10	118957048	118957048	+	Silent	SNP	C	C	T			TCGA-HT-7608-01A-11D-2086-08	TCGA-HT-7608-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a5c656-38cc-4852-ac49-3a7ca6d164a0	1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6	g.chr10:118957048C>T	ENST00000334549.1	+	1	49	c.49C>T	c.(49-51)Ctg>Ttg	p.L17L		NM_181840.1	NP_862823.1	Q7Z418	KCNKI_HUMAN	potassium channel, subfamily K, member 18	17						integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	41		Colorectal(252;0.19)		all cancers(201;0.0211)		CCCAGAGGCCCTGGGAAAGCT	0.632													4	68					0	0	1	0	0	T	118957048	C	T	118957048	2	4	253	1	0	0	0	0	0	0	0	1	8109	680	24	2		2	KCNK18	10	118957048	Silent	SNP	C	TCGA-HT-7608-01A-11D-2086-08		118957048	16577699	15	27210											
PRPF40B	25766	broad.mit.edu	37	12	50036431	50036431	+	Silent	SNP	C	C	G			TCGA-HT-7608-01A-11D-2086-08	TCGA-HT-7608-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a5c656-38cc-4852-ac49-3a7ca6d164a0	1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6	g.chr12:50036431C>G	ENST00000261897.1	+	20	2537	c.1986C>G	c.(1984-1986)ctC>ctG	p.L662L	PRPF40B_ENST00000380281.1_Silent_p.L675L|PRPF40B_ENST00000548825.2_Silent_p.L697L|FMNL3_ENST00000335154.5_3'UTR			Q6NWY9	PR40B_HUMAN	PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae)	675					mRNA processing|RNA splicing	nuclear speck				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34						GGATCCGGCTCTTCCGGGAGT	0.557													25	24					0	0	1	0	0	G	50036431	C	G	50036431	2	3	253	1	0	0	0	0	0	0	0	1	12624	900	32	4		4	PRPF40B	12	50036431	Silent	SNP	C	TCGA-HT-7608-01A-11D-2086-08		50036431	83815464	16	27211											
PRIM1	5557	broad.mit.edu	37	12	57136804	57136804	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HT-7608-01A-11D-2086-08	TCGA-HT-7608-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a5c656-38cc-4852-ac49-3a7ca6d164a0	1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6	g.chr12:57136804delT	ENST00000338193.6	-	7	751	c.715delA	c.(715-717)agcfs	p.S239fs		NM_000946.2	NP_000937.1	P49642	PRI1_HUMAN	primase, DNA, polypeptide 1 (49kDa)	239					DNA replication, synthesis of RNA primer|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|nucleoplasm	DNA primase activity|metal ion binding			kidney(1)|lung(6)|prostate(1)	8						TTATCCCAGCTTTCTTTATTT	0.299													2	4	---	---	---	---						-	57136804	T	-	57136804	7	5	253	1	0	1	0	1	0	0	0	0	12542	1609	56	0	575	0	PRIM1	12	57136804	Frame_Shift_Del	DEL	T	TCGA-HT-7608-01A-11D-2086-08	7100373	57136804	76715091	17	27212											
EIF2B1	1967	broad.mit.edu	37	12	124111689	124111689	+	Silent	SNP	G	G	A	rs146748240	byFrequency	TCGA-HT-7608-01A-11D-2086-08	TCGA-HT-7608-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a5c656-38cc-4852-ac49-3a7ca6d164a0	1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6	g.chr12:124111689G>A	ENST00000424014.2	-	5	592	c.384C>T	c.(382-384)caC>caT	p.H128H	EIF2B1_ENST00000539951.1_Silent_p.H115H|EIF2B1_ENST00000537073.1_Silent_p.H128H	NM_001414.3	NP_001405.1	Q14232	EI2BA_HUMAN	eukaryotic translation initiation factor 2B, subunit 1 alpha, 26kDa	128					cellular response to stimulus|oligodendrocyte development|regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus	cytosol|eukaryotic translation initiation factor 2B complex|membrane fraction|plasma membrane	protein binding|translation initiation factor activity			breast(1)|kidney(3)|large_intestine(2)|lung(3)|urinary_tract(1)	10	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.67e-05)|Epithelial(86;0.000353)|all cancers(50;0.00489)		TGGAGTAGGCGTGAGTCAATA	0.562													8	120					0	0	1	0	0	A	124111689	G	A	124111689	2	1	253	1	0	0	0	0	0	0	0	1	5026	1136	40	1		1	EIF2B1	12	124111689	Silent	SNP	G	TCGA-HT-7608-01A-11D-2086-08	66974885	124111689	9740206	18	27213											
TSHR	7253	broad.mit.edu	37	14	81609744	81609744	+	Missense_Mutation	SNP	G	G	A	rs146403935	by1000genomes	TCGA-HT-7608-01A-11D-2086-08	TCGA-HT-7608-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a5c656-38cc-4852-ac49-3a7ca6d164a0	1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6	g.chr14:81609744G>A	ENST00000541158.2	+	11	1664	c.1342G>A	c.(1342-1344)Gtc>Atc	p.V448I	RP11-114N19.3_ENST00000557775.1_RNA|TSHR_ENST00000298171.2_Missense_Mutation_p.V448I			P16473	TSHR_HUMAN	thyroid stimulating hormone receptor	448					cell-cell signaling|positive regulation of cell proliferation	integral to plasma membrane	protein binding|thyroid-stimulating hormone receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1)	337				BRCA - Breast invasive adenocarcinoma(234;0.0402)	Thyrotropin Alfa(DB00024)	CAAACTGAACGTCCCCCGCTT	0.517			Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism						12	163					0	0	1	0	0	A	81609744	G	A	81609744	3	1	253	1	0	0	0	0	1	0	0	0	16683	1145	40	1	1517	1	TSHR	14	81609744	Missense_Mutation	SNP	G	TCGA-HT-7608-01A-11D-2086-08		81609744	25739796	19	27214											
BTBD1	53339	broad.mit.edu	37	15	83687454	83687457	+	Splice_Site	DEL	CTTA	CTTA	-			TCGA-HT-7608-01A-11D-2086-08	TCGA-HT-7608-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a5c656-38cc-4852-ac49-3a7ca6d164a0	1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6	g.chr15:83687454_83687457delCTTA	ENST00000261721.4	-	7	1493		c.e7+1		BTBD1_ENST00000379403.2_Splice_Site|RP11-382A20.5_ENST00000566841.1_RNA|RP11-382A20.7_ENST00000570202.1_RNA	NM_001011885.1|NM_025238.3	NP_001011885.1|NP_079514.1	Q9H0C5	BTBD1_HUMAN	BTB (POZ) domain containing 1							cytoplasmic mRNA processing body|protein complex	protein binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)	10				all cancers(203;0.000186)		GTGCATGACTCTTACTTTGAGTGT	0.441													22	55	---	---	---	---						-	83687457	CTTA	-	83687454	8	5	253	1	0	1	0	1	0	0	1	0	1539	928	32	0		0	BTBD1	15	83687454	Splice_Site	DEL	CTTA	TCGA-HT-7608-01A-11D-2086-08		83687454	18843938	20	27215											
KLHL25	64410	broad.mit.edu	37	15	86312652	86312652	+	Silent	SNP	G	G	A			TCGA-HT-7608-01A-11D-2086-08	TCGA-HT-7608-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a5c656-38cc-4852-ac49-3a7ca6d164a0	1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6	g.chr15:86312652G>A	ENST00000337975.5	-	2	664	c.390C>T	c.(388-390)caC>caT	p.H130H	KLHL25_ENST00000536947.1_Silent_p.H130H|KLHL25_ENST00000559131.1_Intron	NM_022480.3	NP_071925.2	Q9H0H3	ENC2_HUMAN	kelch-like family member 25	130						cytoplasm				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	25						CCCGCACATCGTGGAACTGCA	0.622													10	53					0	0	1	0	0	A	86312652	G	A	86312652	2	1	253	1	0	0	0	0	0	0	0	1	8423	1136	40	1		1	KLHL25	15	86312652	Silent	SNP	G	TCGA-HT-7608-01A-11D-2086-08	2625198	86312652	16218740	21	27216											
MYH10	4628	broad.mit.edu	37	17	8449945	8449945	+	Missense_Mutation	SNP	C	C	A			TCGA-HT-7608-01A-11D-2086-08	TCGA-HT-7608-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a5c656-38cc-4852-ac49-3a7ca6d164a0	1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6	g.chr17:8449945C>A	ENST00000360416.3	-	12	1333	c.1195G>T	c.(1195-1197)Gtg>Ttg	p.V399L	MYH10_ENST00000269243.4_Missense_Mutation_p.V389L|MYH10_ENST00000379980.4_Missense_Mutation_p.V405L|MYH10_ENST00000396239.1_Missense_Mutation_p.V389L	NM_001256012.1	NP_001242941.1	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	389	Myosin head-like.				actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						AACTCCATCACATTCATCCCA	0.433													3	55					1	1	1	1	0	A	8449945	C	A	8449945	3	1	253	1	0	0	0	0	1	0	0	0	10078	478	17	5	4889	5	MYH10	17	8449945	Missense_Mutation	SNP	C	TCGA-HT-7608-01A-11D-2086-08		8449945	72745265	22	27217											
MYH8	4626	broad.mit.edu	37	17	10299697	10299697	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HT-7608-01A-11D-2086-08	TCGA-HT-7608-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a5c656-38cc-4852-ac49-3a7ca6d164a0	1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6	g.chr17:10299697G>A	ENST00000403437.2	-	33	4697	c.4603C>T	c.(4603-4605)Caa>Taa	p.Q1535*	RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1535					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						TGTTCTACTTGCTTCTTTATT	0.383									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				5	24					0	0	1	0	0	A	10299697	G	A	10299697	4	1	253	1	0	0	0	0	0	1	0	0	10089	1328	46	2	1242	2	MYH8	17	10299697	Nonsense_Mutation	SNP	G	TCGA-HT-7608-01A-11D-2086-08	1849752	10299697	70895513	23	27218											
NF1	4763	broad.mit.edu	37	17	29562639	29562639	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-7608-01A-11D-2086-08	TCGA-HT-7608-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a5c656-38cc-4852-ac49-3a7ca6d164a0	1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6	g.chr17:29562639C>G	ENST00000358273.4	+	28	4102	c.3719C>G	c.(3718-3720)gCt>gGt	p.A1240G	NF1_ENST00000356175.3_Missense_Mutation_p.A1240G	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1240	Ras-GAP.				actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		GATGAACTAGCTCGAGTTCTG	0.383			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			10	250					0	0	1	0	0	G	29562639	C	G	29562639	3	3	253	1	0	0	0	0	1	0	0	0	10403	797	28	4	3890	4	NF1	17	29562639	Missense_Mutation	SNP	C	TCGA-HT-7608-01A-11D-2086-08	19262942	29562639	51632571	24	27219											
KRT15	3866	broad.mit.edu	37	17	39673185	39673185	+	Missense_Mutation	SNP	C	C	T	rs138271368		TCGA-HT-7608-01A-11D-2086-08	TCGA-HT-7608-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a5c656-38cc-4852-ac49-3a7ca6d164a0	1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6	g.chr17:39673185C>T	ENST00000254043.3	-	3	4198	c.613G>A	c.(613-615)Gtt>Att	p.V205I	KRT15_ENST00000393981.3_Missense_Mutation_p.V40I|KRT15_ENST00000393976.2_Missense_Mutation_p.V205I|KRT15_ENST00000393974.3_Missense_Mutation_p.V40I	NM_002275.3	NP_002266	P19012	K1C15_HUMAN	keratin 15	205	Coil 1B.|Rod.				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton	p.V205I(3)		NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16		Breast(137;0.000286)				TCAGCCTCAACGCCCTGGCGC	0.612													13	69					0	0	1	0	0	T	39673185	C	T	39673185	3	4	253	1	0	0	0	0	1	0	0	0	8495	536	19	1	781	1	KRT15	17	39673185	Missense_Mutation	SNP	C	TCGA-HT-7608-01A-11D-2086-08	10110546	39673185	41522025	25	27220											
DNM2	1785	broad.mit.edu	37	19	10908139	10908139	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-7608-01A-11D-2086-08	TCGA-HT-7608-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a5c656-38cc-4852-ac49-3a7ca6d164a0	1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6	g.chr19:10908139G>T	ENST00000314646.5	+	10	1444	c.1280G>T	c.(1279-1281)tGt>tTt	p.C427F	DNM2_ENST00000355667.6_Intron|DNM2_ENST00000408974.4_Missense_Mutation_p.C427F|DNM2_ENST00000585892.1_Intron|DNM2_ENST00000389253.4_Missense_Mutation_p.C427F|DNM2_ENST00000359692.6_Intron			P50570	DYN2_HUMAN	dynamin 2	427					G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport	cell junction|cytosol|Golgi membrane|microtubule|postsynaptic density|postsynaptic membrane	GTP binding|GTPase activity|microtubule binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	42			Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)			AGTTTGAAGTGTGTTGATCTC	0.517			"F, N, Splice, Mis, O"		ETP ALL								19	63					6.44725e-10	6.75426e-10	1	1	0	T	10908139	G	T	10908139	3	4	253	1	0	0	0	0	1	0	0	0	4699	1377	48	5	1461	5	DNM2	19	10908139	Missense_Mutation	SNP	G	TCGA-HT-7608-01A-11D-2086-08		10908139	48220844	26	27221											
ZNF709	163051	broad.mit.edu	37	19	12575498	12575498	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7608-01A-11D-2086-08	TCGA-HT-7608-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a5c656-38cc-4852-ac49-3a7ca6d164a0	1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6	g.chr19:12575498G>A	ENST00000397732.3	-	4	1409	c.1238C>T	c.(1237-1239)aCt>aTt	p.T413I	CTD-3105H18.18_ENST00000598753.1_Intron|ZNF709_ENST00000428311.1_Missense_Mutation_p.T413I	NM_152601.3	NP_689814.1	Q8N972	ZN709_HUMAN	zinc finger protein 709	413					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.T413I(2)		large_intestine(3)|upper_aerodigestive_tract(3)	6						TCCAGTGTGAGTTCTTTCATG	0.418													5	138					0	0	1	0	0	A	12575498	G	A	12575498	3	1	253	1	0	0	0	0	1	0	0	0	18169	1029	36	2	691	2	ZNF709	19	12575498	Missense_Mutation	SNP	G	TCGA-HT-7608-01A-11D-2086-08	1667359	12575498	46553485	27	27222											
AXL	558	broad.mit.edu	37	19	41763470	41763470	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7608-01A-11D-2086-08	TCGA-HT-7608-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a5c656-38cc-4852-ac49-3a7ca6d164a0	1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6	g.chr19:41763470G>A	ENST00000301178.4	+	19	2459	c.2269G>A	c.(2269-2271)Gag>Aag	p.E757K	AXL_ENST00000359092.3_Missense_Mutation_p.E748K|AXL_ENST00000593513.1_Missense_Mutation_p.E489K	NM_001278599.1|NM_021913.3	NP_001265528.1|NP_068713	P30530	UFO_HUMAN	AXL receptor tyrosine kinase	757	Protein kinase.					integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	48						GGAGAACAGCGAGATTTATGA	0.557													5	98					0	0	1	0	0	A	41763470	G	A	41763470	3	1	253	1	0	0	0	0	1	0	0	0	1236	1059	37	1	2343	1	AXL	19	41763470	Missense_Mutation	SNP	G	TCGA-HT-7608-01A-11D-2086-08	29187972	41763470	17365513	28	27223											
CIC	23152	broad.mit.edu	37	19	42792020	42792021	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-HT-7608-01A-11D-2086-08	TCGA-HT-7608-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a5c656-38cc-4852-ac49-3a7ca6d164a0	1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6	g.chr19:42792020_42792021delAG	ENST00000572681.2	+	7	3619_3620	c.3551_3552delAG	c.(3550-3552)aagfs	p.K1185fs	CIC_ENST00000575354.2_Frame_Shift_Del_p.K276fs|CIC_ENST00000160740.3_Frame_Shift_Del_p.K276fs			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	276	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				AAGGACCGAAAGAAGTCCAGCT	0.649			"Mis, F, S"		oligodendroglioma								5	5	---	---	---	---						-	42792021	AG	-	42792020	7	5	253	1	0	1	0	1	0	0	0	0	3446	72	3	0	846	0	CIC	19	42792020	Frame_Shift_Del	DEL	AG	TCGA-HT-7608-01A-11D-2086-08	1028550	42792020	16336963	29	27224											
RIPK4	54101	broad.mit.edu	37	21	43161859	43161859	+	Silent	SNP	G	G	A			TCGA-HT-7608-01A-11D-2086-08	TCGA-HT-7608-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a5c656-38cc-4852-ac49-3a7ca6d164a0	1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6	g.chr21:43161859G>A	ENST00000352483.2	-	9	1702	c.1638C>T	c.(1636-1638)aaC>aaT	p.N546N	RIPK4_ENST00000542057.1_Silent_p.N435N|RIPK4_ENST00000544709.1_Silent_p.N435N|RIPK4_ENST00000332512.3_Silent_p.N498N			Q96T11	Q96T11_HUMAN	receptor-interacting serine-threonine kinase 4	498						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						CATCCTTGGCGTTGACACTGA	0.632													8	102					0	0	1	0	0	A	43161859	G	A	43161859	2	1	253	1	0	0	0	0	0	0	0	1	13435	1136	40	1		1	RIPK4	21	43161859	Silent	SNP	G	TCGA-HT-7608-01A-11D-2086-08		43161859	4968036	30	27225											
TOP3B	8940	broad.mit.edu	37	22	22322990	22322990	+	Splice_Site	SNP	C	C	A			TCGA-HT-7608-01A-11D-2086-08	TCGA-HT-7608-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a5c656-38cc-4852-ac49-3a7ca6d164a0	1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6	g.chr22:22322990C>A	ENST00000398793.2	-	7	1173		c.e7+1		TOP3B_ENST00000413067.2_Splice_Site|TOP3B_ENST00000357179.5_Splice_Site	NM_003935.3	NP_003926.1	O95985	TOP3B_HUMAN	topoisomerase (DNA) III beta						DNA topological change	nucleus	ATP binding|DNA topoisomerase type I activity|protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(4)|lung(9)|ovary(1)	26	Colorectal(54;0.105)			READ - Rectum adenocarcinoma(21;0.145)		AGGCAAGGAACCTTGGCCTGC	0.552													19	58					5.26018e-13	5.64507e-13	1	1	0	A	22322990	C	A	22322990	5	1	253	1	0	0	0	0	0	0	1	0	16429	521	18	5	1897	5	TOP3B	22	22322990	Splice_Site	SNP	C	TCGA-HT-7608-01A-11D-2086-08		22322990	28981576	31	27226											
RASD2	23551	broad.mit.edu	37	22	35947956	35947956	+	Silent	SNP	C	C	T	rs144245051		TCGA-HT-7608-01A-11D-2086-08	TCGA-HT-7608-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a5c656-38cc-4852-ac49-3a7ca6d164a0	1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6	g.chr22:35947956C>T	ENST00000216127.4	+	3	1320	c.678C>T	c.(676-678)gaC>gaT	p.D226D		NM_014310.3	NP_055125.2	Q96D21	RHES_HUMAN	RASD family, member 2	226	Interaction with GNB1, GNB2 and GNB3.				locomotory behavior|positive regulation of protein kinase B signaling cascade|positive regulation of protein sumoylation|regulation of cAMP-mediated signaling	intracellular|plasma membrane	G-protein beta-subunit binding|GTP binding|GTPase activity	p.D226D(1)		endometrium(2)|large_intestine(1)|lung(8)|prostate(1)|skin(1)	13						AGGAGATGGACGCCTATGGCA	0.642													21	44					0	0	1	0	0	T	35947956	C	T	35947956	2	4	253	1	0	0	0	0	0	0	0	1	13119	535	19	1		1	RASD2	22	35947956	Silent	SNP	C	TCGA-HT-7608-01A-11D-2086-08	13624966	35947956	15356610	32	27227											
CACNA1F	778	broad.mit.edu	37	X	49063294	49063294	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7608-01A-11D-2086-08	TCGA-HT-7608-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a5c656-38cc-4852-ac49-3a7ca6d164a0	1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6	g.chrX:49063294C>T	ENST00000376265.2	-	45	5348	c.5287G>A	c.(5287-5289)Gca>Aca	p.A1763T	CACNA1F_ENST00000323022.5_Missense_Mutation_p.A1752T|CACNA1F_ENST00000376251.1_Missense_Mutation_p.A1698T	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	1763					axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Verapamil(DB00661)	GGAGTCCCTGCCTGCTCATCT	0.637													3	37					0	0	1	0	0	T	49063294	C	T	49063294	3	4	253	1	0	0	0	0	1	0	0	0	2561	739	26	2	662	2	CACNA1F	23	49063294	Missense_Mutation	SNP	C	TCGA-HT-7608-01A-11D-2086-08		49063294	106207266	33	27228											
NPR1	4881	broad.mit.edu	37	1	153654206	153654206	+	Silent	SNP	C	C	T	rs148390726		TCGA-HT-7609-01A-11D-2086-08	TCGA-HT-7609-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5f5c7e-e359-4788-8718-f7fc5164a30d	8f0035fe-017d-4cf6-81b8-79b90a6214c5	g.chr1:153654206C>T	ENST00000368680.3	+	4	1534	c.1062C>T	c.(1060-1062)caC>caT	p.H354H	NPR1_ENST00000413826.1_3'UTR	NM_000906.3	NP_000897.3	P16066	ANPRA_HUMAN	natriuretic peptide receptor A/guanylate cyclase A (atrionatriuretic peptide receptor A)	354					body fluid secretion|intracellular signal transduction|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation		ATP binding|GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|peptide receptor activity, G-protein coupled|protein kinase activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)		Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Nesiritide(DB04899)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)|Nitroprusside(DB00325)	CATCCTTCCACGACGGGCTCC	0.582													6	99					0	0	1	0	0	T	153654206	C	T	153654206	2	4	254	1	0	0	0	0	0	0	0	1	10642	535	19	1		1	NPR1	1	153654206	Silent	SNP	C	TCGA-HT-7609-01A-11D-2086-08		153654206	95596415	1	27229											
TNNI1	7135	broad.mit.edu	37	1	201382170	201382170	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7609-01A-11D-2086-08	TCGA-HT-7609-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5f5c7e-e359-4788-8718-f7fc5164a30d	8f0035fe-017d-4cf6-81b8-79b90a6214c5	g.chr1:201382170T>C	ENST00000361379.4	-	6	361	c.269A>G	c.(268-270)aAc>aGc	p.N90S	TNNI1_ENST00000555948.1_Intron|TNNI1_ENST00000336092.4_Missense_Mutation_p.N90S|TNNI1_ENST00000367312.1_Missense_Mutation_p.N90S	NM_003281.3	NP_003272.3	P19237	TNNI1_HUMAN	troponin I type 1 (skeletal, slow)	90					muscle filament sliding|regulation of striated muscle contraction	cytosol|troponin complex	actin binding|tropomyosin binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|skin(1)	8						CTCCCTGGTGTTGTGGAGGCA	0.622													18	396					0	0	1	0	0	C	201382170	T	C	201382170	3	2	254	1	0	0	0	0	1	0	0	0	16386	1725	60	3	306	3	TNNI1	1	201382170	Missense_Mutation	SNP	T	TCGA-HT-7609-01A-11D-2086-08	47727964	201382170	47868451	2	27230											
TFCP2L1	29842	broad.mit.edu	37	2	121991692	121991692	+	Silent	SNP	G	G	A	rs140466557	by1000genomes	TCGA-HT-7609-01A-11D-2086-08	TCGA-HT-7609-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5f5c7e-e359-4788-8718-f7fc5164a30d	8f0035fe-017d-4cf6-81b8-79b90a6214c5	g.chr2:121991692G>A	ENST00000263707.5	-	12	1270	c.1173C>T	c.(1171-1173)gaC>gaT	p.D391D		NM_014553.2	NP_055368.1	Q9NZI6	TF2L1_HUMAN	transcription factor CP2-like 1	391					female pregnancy|steroid biosynthetic process	mitochondrion|nucleolus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1)|pancreas(2)|skin(1)|stomach(1)	22	Renal(3;0.01)					CTCCACTGCCGTCCCGCTTCT	0.572													14	119					0	0	1	0	0	A	121991692	G	A	121991692	2	1	254	1	0	0	0	0	0	0	0	1	15856	1136	40	1		1	TFCP2L1	2	121991692	Silent	SNP	G	TCGA-HT-7609-01A-11D-2086-08		121991692	121207681	3	27231											
FKBP7	51661	broad.mit.edu	37	2	179341854	179341854	+	Missense_Mutation	SNP	A	A	G	rs144779588		TCGA-HT-7609-01A-11D-2086-08	TCGA-HT-7609-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5f5c7e-e359-4788-8718-f7fc5164a30d	8f0035fe-017d-4cf6-81b8-79b90a6214c5	g.chr2:179341854A>G	ENST00000424785.2	-	2	366	c.308T>C	c.(307-309)aTg>aCg	p.M103T	FKBP7_ENST00000464248.1_5'UTR|FKBP7_ENST00000434643.2_Missense_Mutation_p.M103T	NM_001135212.1|NM_181342.2	NP_001128684.1|NP_851939.1	Q9Y680	FKBP7_HUMAN	FK506 binding protein 7	103	PPIase FKBP-type.				protein folding	endoplasmic reticulum lumen|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity			kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	8			OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.0159)|all cancers(119;0.0564)			TCCAGGGCACATATCTGTCAT	0.393													41	63					0	0	1	0	0	G	179341854	A	G	179341854	3	3	254	1	0	0	0	0	1	0	0	0	5946	217	8	3	372	3	FKBP7	2	179341854	Missense_Mutation	SNP	A	TCGA-HT-7609-01A-11D-2086-08	57350162	179341854	63857519	4	27232											
NCKAP1	10787	broad.mit.edu	37	2	183829476	183829476	+	Silent	SNP	T	T	C			TCGA-HT-7609-01A-11D-2086-08	TCGA-HT-7609-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5f5c7e-e359-4788-8718-f7fc5164a30d	8f0035fe-017d-4cf6-81b8-79b90a6214c5	g.chr2:183829476T>C	ENST00000361354.4	-	17	2061	c.1689A>G	c.(1687-1689)tcA>tcG	p.S563S	NCKAP1_ENST00000360982.2_Silent_p.S569S	NM_013436.3	NP_038464.1	Q9Y2A7	NCKP1_HUMAN	NCK-associated protein 1						apoptosis|central nervous system development	integral to membrane|lamellipodium membrane	protein binding			breast(3)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(11)|lung(16)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			TTGAGTATCTTGATTGAGAGG	0.323													6	79					0	0	1	0	0	C	183829476	T	C	183829476	2	2	254	1	0	0	0	0	0	0	0	1	10268	1799	63	3		3	NCKAP1	2	183829476	Silent	SNP	T	TCGA-HT-7609-01A-11D-2086-08	4487622	183829476	59369897	5	27233											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-HT-7609-01A-11D-2086-08	TCGA-HT-7609-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5f5c7e-e359-4788-8718-f7fc5164a30d	8f0035fe-017d-4cf6-81b8-79b90a6214c5	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								35	48					0	0	1	0	0	T	209113112	C	T	209113112	3	4	254	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HT-7609-01A-11D-2086-08	25283636	209113112	34086261	6	27234											
KLHL30	377007	broad.mit.edu	37	2	239059501	239059501	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7609-01A-11D-2086-08	TCGA-HT-7609-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5f5c7e-e359-4788-8718-f7fc5164a30d	8f0035fe-017d-4cf6-81b8-79b90a6214c5	g.chr2:239059501T>C	ENST00000409223.1	+	8	1639	c.1532T>C	c.(1531-1533)cTg>cCg	p.L511P	KLHL30_ENST00000305959.4_Missense_Mutation_p.L493P			Q0D2K2	KLH30_HUMAN	kelch-like family member 30	511										lung(4)	4		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		CTGGTGCCACTGGGTGATGCG	0.662													5	9					0	0	1	0	0	C	239059501	T	C	239059501	3	2	254	1	0	0	0	0	1	0	0	0	8427	1580	55	3	1558	3	KLHL30	2	239059501	Missense_Mutation	SNP	T	TCGA-HT-7609-01A-11D-2086-08	29946389	239059501	4139872	7	27235											
SLC34A2	10568	broad.mit.edu	37	4	25677849	25677849	+	Silent	SNP	G	G	A			TCGA-HT-7609-01A-11D-2086-08	TCGA-HT-7609-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5f5c7e-e359-4788-8718-f7fc5164a30d	8f0035fe-017d-4cf6-81b8-79b90a6214c5	g.chr4:25677849G>A	ENST00000382051.3	+	13	1601	c.1551G>A	c.(1549-1551)ggG>ggA	p.G517G	SLC34A2_ENST00000504570.1_Silent_p.G516G|SLC34A2_ENST00000503434.1_Silent_p.G516G	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415	O95436	NPT2B_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 2	517					cellular phosphate ion homeostasis	apical plasma membrane|brush border membrane|integral to plasma membrane	phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity		SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				TGGCCAAGGGGCTGGGCAACA	0.577			T	ROS1	NSCLC								68	94					0	0	1	0	0	A	25677849	G	A	25677849	2	1	254	1	0	0	0	0	0	0	0	1	14623	1190	42	2		2	SLC34A2	4	25677849	Silent	SNP	G	TCGA-HT-7609-01A-11D-2086-08		25677849	165476427	8	27236											
MCCC2	64087	broad.mit.edu	37	5	70944989	70944989	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7609-01A-11D-2086-08	TCGA-HT-7609-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5f5c7e-e359-4788-8718-f7fc5164a30d	8f0035fe-017d-4cf6-81b8-79b90a6214c5	g.chr5:70944989G>A	ENST00000340941.6	+	14	1411	c.1282G>A	c.(1282-1284)Gct>Act	p.A428T	MCCC2_ENST00000323375.8_Missense_Mutation_p.A390T	NM_022132.4	NP_071415.1	Q9HCC0	MCCB_HUMAN	methylcrotonoyl-CoA carboxylase 2 (beta)	428	Carboxyltransferase.				leucine catabolic process	mitochondrial inner membrane|mitochondrial matrix	ATP binding|methylcrotonoyl-CoA carboxylase activity			endometrium(2)|kidney(15)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1)	30		Lung NSC(167;0.000697)|Prostate(74;0.0107)|Ovarian(174;0.0175)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;2.04e-54)	Biotin(DB00121)	GATGGTGGCCGCTGTGGCCTG	0.512													3	60					0	0	1	0	0	A	70944989	G	A	70944989	3	1	254	1	0	0	0	0	1	0	0	0	9425	1087	38	1	1336	1	MCCC2	5	70944989	Missense_Mutation	SNP	G	TCGA-HT-7609-01A-11D-2086-08		70944989	109970271	9	27237											
SSBP2	23635	broad.mit.edu	37	5	80785076	80785076	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-7609-01A-11D-2086-08	TCGA-HT-7609-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5f5c7e-e359-4788-8718-f7fc5164a30d	8f0035fe-017d-4cf6-81b8-79b90a6214c5	g.chr5:80785076G>T	ENST00000320672.4	-	6	635	c.425C>A	c.(424-426)cCt>cAt	p.P142H	SSBP2_ENST00000509053.1_Missense_Mutation_p.P112H|SSBP2_ENST00000515395.1_Missense_Mutation_p.P112H|SSBP2_ENST00000505980.1_Intron|SSBP2_ENST00000514493.1_Missense_Mutation_p.P112H	NM_001256732.1|NM_001256733.1|NM_012446.3	NP_001243661.1|NP_001243662.1|NP_036578.2	P81877	SSBP2_HUMAN	single-stranded DNA binding protein 2	142	Pro-rich.				regulation of transcription, DNA-dependent	cytoplasm|nucleus	single-stranded DNA binding		SSBP2/JAK2(4)	central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	10		Lung NSC(167;0.00154)|all_lung(232;0.00179)|Ovarian(174;0.0338)		OV - Ovarian serous cystadenocarcinoma(54;1.07e-41)|Epithelial(54;2.79e-35)|all cancers(79;1.18e-29)		TACCTGATTAGGTATCCTCAA	0.328													6	28					5.9392e-07	6.61411e-07	1	1	0	T	80785076	G	T	80785076	3	4	254	1	0	0	0	0	1	0	0	0	15236	1000	35	4	708	4	SSBP2	5	80785076	Missense_Mutation	SNP	G	TCGA-HT-7609-01A-11D-2086-08	9840087	80785076	100130184	10	27238											
PJA2	9867	broad.mit.edu	37	5	108717302	108717302	+	Missense_Mutation	SNP	A	A	C			TCGA-HT-7609-01A-11D-2086-08	TCGA-HT-7609-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5f5c7e-e359-4788-8718-f7fc5164a30d	8f0035fe-017d-4cf6-81b8-79b90a6214c5	g.chr5:108717302A>C	ENST00000361189.2	-	3	373	c.134T>G	c.(133-135)tTt>tGt	p.F45C	PJA2_ENST00000511624.1_5'UTR|PJA2_ENST00000361557.3_Missense_Mutation_p.F45C	NM_014819.4	NP_055634.3	O43164	PJA2_HUMAN	praja ring finger 2, E3 ubiquitin protein ligase	45					long-term memory|regulation of protein kinase A signaling cascade	cell junction|endoplasmic reticulum membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	ligase activity|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21		all_cancers(142;4.4e-06)|all_epithelial(76;8.17e-08)|Prostate(80;0.00676)|Lung NSC(167;0.0436)|Ovarian(225;0.0443)|all_lung(232;0.053)|Colorectal(57;0.0946)|Breast(839;0.151)		OV - Ovarian serous cystadenocarcinoma(64;3.46e-10)|Epithelial(69;6.02e-09)|COAD - Colon adenocarcinoma(37;0.224)		ACATGGTTTAAAACTGACATA	0.443													9	76					0	0	1	0	0	C	108717302	A	C	108717302	3	2	254	1	0	0	0	0	1	0	0	0	12010	14	1	5	2024	5	PJA2	5	108717302	Missense_Mutation	SNP	A	TCGA-HT-7609-01A-11D-2086-08	27932226	108717302	72197958	11	27239											
FTMT	94033	broad.mit.edu	37	5	121188111	121188111	+	Silent	SNP	C	C	T			TCGA-HT-7609-01A-11D-2086-08	TCGA-HT-7609-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5f5c7e-e359-4788-8718-f7fc5164a30d	8f0035fe-017d-4cf6-81b8-79b90a6214c5	g.chr5:121188111C>T	ENST00000321339.1	+	1	462	c.453C>T	c.(451-453)gaC>gaT	p.D151D		NM_177478.1	NP_803431.1	Q8N4E7	FTMT_HUMAN	ferritin mitochondrial	151	Ferritin-like diiron.				cellular iron ion homeostasis|iron ion transport|positive regulation of cell proliferation|positive regulation of lyase activity|positive regulation of oxidoreductase activity|positive regulation of transferase activity	mitochondrion	ferric iron binding|ferroxidase activity	p.D151D(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	33		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027)		CGGAACAGGACGACTGGGAAA	0.582													11	114					0	0	1	0	0	T	121188111	C	T	121188111	2	4	254	1	0	0	0	0	0	0	0	1	6120	535	19	1		1	FTMT	5	121188111	Silent	SNP	C	TCGA-HT-7609-01A-11D-2086-08	12470809	121188111	59727149	12	27240											
PCDHB3	56132	broad.mit.edu	37	5	140482147	140482147	+	Missense_Mutation	SNP	C	C	G	rs144773246	byFrequency	TCGA-HT-7609-01A-11D-2086-08	TCGA-HT-7609-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5f5c7e-e359-4788-8718-f7fc5164a30d	8f0035fe-017d-4cf6-81b8-79b90a6214c5	g.chr5:140482147C>G	ENST00000231130.2	+	1	1914	c.1914C>G	c.(1912-1914)caC>caG	p.H638Q		NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN		638	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	p.H638Q(1)		NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGGCCAAGCACAGGCTGGTGG	0.697													4	109					0	0	1	0	0	G	140482147	C	G	140482147	3	3	254	1	0	0	0	0	1	0	0	0	11590	477	17	5	1916	5	PCDHB3	5	140482147	Missense_Mutation	SNP	C	TCGA-HT-7609-01A-11D-2086-08	19294036	140482147	40433113	13	27241											
CCDC69	26112	broad.mit.edu	37	5	150565607	150565607	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HT-7609-01A-11D-2086-08	TCGA-HT-7609-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5f5c7e-e359-4788-8718-f7fc5164a30d	8f0035fe-017d-4cf6-81b8-79b90a6214c5	g.chr5:150565607G>A	ENST00000355417.2	-	6	646	c.472C>T	c.(472-474)Cga>Tga	p.R158*	CCDC69_ENST00000521308.1_5'UTR	NM_015621.2	NP_056436.2	A6NI79	CCD69_HUMAN	coiled-coil domain containing 69	158										haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(2)|stomach(1)	9		Medulloblastoma(196;0.091)|all_hematologic(541;0.207)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTATAGTTTCGGCTCAGAATG	0.557													10	102					0	0	1	0	0	A	150565607	G	A	150565607	4	1	254	1	0	0	0	0	0	1	0	0	2861	1124	39	1	434	1	CCDC69	5	150565607	Nonsense_Mutation	SNP	G	TCGA-HT-7609-01A-11D-2086-08	10083460	150565607	30349653	14	27242											
GRIK2	2898	broad.mit.edu	37	6	102372528	102372528	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7609-01A-11D-2086-08	TCGA-HT-7609-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5f5c7e-e359-4788-8718-f7fc5164a30d	8f0035fe-017d-4cf6-81b8-79b90a6214c5	g.chr6:102372528G>A	ENST00000369138.1	+	12	2291	c.1801G>A	c.(1801-1803)Gtg>Atg	p.V601M	GRIK2_ENST00000421544.1_Missense_Mutation_p.V601M|GRIK2_ENST00000318991.6_Missense_Mutation_p.V601M|GRIK2_ENST00000413795.1_Missense_Mutation_p.V601M|GRIK2_ENST00000369134.4_Missense_Mutation_p.V552M|GRIK2_ENST00000369137.3_Intron	NM_001166247.1	NP_001159719.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	601					glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	L-Glutamic Acid(DB00142)	TGACTCAGACGTGGTGGAAAA	0.418													9	102					0	0	1	0	0	A	102372528	G	A	102372528	3	1	254	1	0	0	0	0	1	0	0	0	6815	1145	40	1	1847	1	GRIK2	6	102372528	Missense_Mutation	SNP	G	TCGA-HT-7609-01A-11D-2086-08		102372528	68742539	15	27243											
HECA	51696	broad.mit.edu	37	6	139487914	139487914	+	Silent	SNP	G	G	T			TCGA-HT-7609-01A-11D-2086-08	TCGA-HT-7609-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5f5c7e-e359-4788-8718-f7fc5164a30d	8f0035fe-017d-4cf6-81b8-79b90a6214c5	g.chr6:139487914G>T	ENST00000367658.2	+	2	1050	c.765G>T	c.(763-765)gtG>gtT	p.V255V	RP1-225E12.2_ENST00000588638.1_RNA|RP1-225E12.2_ENST00000415194.2_RNA|RP1-225E12.2_ENST00000590679.1_RNA|RP1-225E12.2_ENST00000586229.1_RNA|RP1-225E12.2_ENST00000589192.1_RNA|RP1-225E12.2_ENST00000587577.1_RNA|RP1-225E12.2_ENST00000588529.1_RNA|RP1-225E12.3_ENST00000585874.1_RNA|RP1-225E12.2_ENST00000586266.1_RNA	NM_016217.2	NP_057301.1	Q9UBI9	HDC_HUMAN	headcase homolog (Drosophila)	255					respiratory tube development					endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)	15				GBM - Glioblastoma multiforme(68;0.000252)|OV - Ovarian serous cystadenocarcinoma(155;0.000387)		AGAAGGCAGTGGGTGCCGCAG	0.677													3	23					1	1	1	1	0	T	139487914	G	T	139487914	2	4	254	1	0	0	0	0	0	0	0	1	7079	1335	47	5		5	HECA	6	139487914	Silent	SNP	G	TCGA-HT-7609-01A-11D-2086-08	37115386	139487914	31627153	16	27244											
DOCK4	9732	broad.mit.edu	37	7	111624387	111624387	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7609-01A-11D-2086-08	TCGA-HT-7609-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5f5c7e-e359-4788-8718-f7fc5164a30d	8f0035fe-017d-4cf6-81b8-79b90a6214c5	g.chr7:111624387T>C	ENST00000428084.1	-	7	795	c.523A>G	c.(523-525)Atc>Gtc	p.I175V	DOCK4_ENST00000476846.1_5'UTR|DOCK4_ENST00000437633.1_Missense_Mutation_p.I175V			Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	175					cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				GTAATGCTGATGTCTTCCGGA	0.463													7	15					0	0	1	0	0	C	111624387	T	C	111624387	3	2	254	1	0	0	0	0	1	0	0	0	4716	1464	51	3	5561	3	DOCK4	7	111624387	Missense_Mutation	SNP	T	TCGA-HT-7609-01A-11D-2086-08		111624387	47514276	17	27245											
DLGAP2	9228	broad.mit.edu	37	8	1626416	1626416	+	Silent	SNP	C	C	T			TCGA-HT-7609-01A-11D-2086-08	TCGA-HT-7609-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5f5c7e-e359-4788-8718-f7fc5164a30d	8f0035fe-017d-4cf6-81b8-79b90a6214c5	g.chr8:1626416C>T	ENST00000421627.2	+	9	2219	c.2085C>T	c.(2083-2085)gcC>gcT	p.A695A		NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	774					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding			breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		GCGTCACGGCCGCCGTCCAAG	0.572													3	73					0	0	1	0	0	T	1626416	C	T	1626416	2	4	254	1	0	0	0	0	0	0	0	1	4588	639	23	1		1	DLGAP2	8	1626416	Silent	SNP	C	TCGA-HT-7609-01A-11D-2086-08		1626416	144737606	18	27246											
CSMD3	114788	broad.mit.edu	37	8	113504737	113504737	+	Silent	SNP	T	T	C			TCGA-HT-7609-01A-11D-2086-08	TCGA-HT-7609-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5f5c7e-e359-4788-8718-f7fc5164a30d	8f0035fe-017d-4cf6-81b8-79b90a6214c5	g.chr8:113504737T>C	ENST00000297405.5	-	31	5503	c.5259A>G	c.(5257-5259)agA>agG	p.R1753R	CSMD3_ENST00000455883.2_Silent_p.R1649R|CSMD3_ENST00000352409.3_Silent_p.R1753R|CSMD3_ENST00000343508.3_Silent_p.R1713R	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1753	Sushi 9.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TTGGCAAGGCTCTATTCCATC	0.363										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			9	105					0	0	1	0	0	C	113504737	T	C	113504737	2	2	254	1	0	0	0	0	0	0	0	1	3971	1548	54	3		3	CSMD3	8	113504737	Silent	SNP	T	TCGA-HT-7609-01A-11D-2086-08	111878321	113504737	32859285	19	27247											
GRINA	2907	broad.mit.edu	37	8	145066754	145066754	+	Missense_Mutation	SNP	T	T	A			TCGA-HT-7609-01A-11D-2086-08	TCGA-HT-7609-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5f5c7e-e359-4788-8718-f7fc5164a30d	8f0035fe-017d-4cf6-81b8-79b90a6214c5	g.chr8:145066754T>A	ENST00000313269.5	+	6	1222	c.944T>A	c.(943-945)cTg>cAg	p.L315Q	GRINA_ENST00000395068.4_Missense_Mutation_p.L315Q	NM_000837.1	NP_000828.1	Q7Z429	GRINA_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate-associated protein 1 (glutamate binding)	315						integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|stomach(1)	9	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TACGCCTCACTGGGCGCTCTG	0.617													20	37					0	0	1	0	0	A	145066754	T	A	145066754	3	1	254	1	0	0	0	0	1	0	0	0	6826	1580	55	5	962	5	GRINA	8	145066754	Missense_Mutation	SNP	T	TCGA-HT-7609-01A-11D-2086-08	31562017	145066754	1297268	20	27248											
TLN1	7094	broad.mit.edu	37	9	35715132	35715132	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-7609-01A-11D-2086-08	TCGA-HT-7609-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5f5c7e-e359-4788-8718-f7fc5164a30d	8f0035fe-017d-4cf6-81b8-79b90a6214c5	g.chr9:35715132G>T	ENST00000314888.9	-	21	3031	c.2678C>A	c.(2677-2679)gCa>gAa	p.A893E	TLN1_ENST00000540444.1_Missense_Mutation_p.A893E	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	893					axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CCCCTCAGCTGCCTCCCGCAG	0.622													5	55					1	1	1	1	0	T	35715132	G	T	35715132	3	4	254	1	0	0	0	0	1	0	0	0	16007	1319	46	5	5095	5	TLN1	9	35715132	Missense_Mutation	SNP	G	TCGA-HT-7609-01A-11D-2086-08		35715132	105498299	21	27249											
WEE1	7465	broad.mit.edu	37	11	9595595	9595597	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-HT-7609-01A-11D-2086-08	TCGA-HT-7609-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5f5c7e-e359-4788-8718-f7fc5164a30d	8f0035fe-017d-4cf6-81b8-79b90a6214c5	g.chr11:9595595_9595597delGAG	ENST00000450114.2	+	1	368_370	c.115_117delGAG	c.(115-117)gagdel	p.E43del		NM_003390.3	NP_003381.1	P30291	WEE1_HUMAN	WEE1 G2 checkpoint kinase	43	Poly-Glu.				blood coagulation|cell cycle checkpoint|cell division|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitosis|S phase of mitotic cell cycle	nucleoplasm	ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding|protein serine/threonine kinase activity	p.E39delE(1)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	23				all cancers(16;4.59e-09)|Epithelial(150;3.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0484)		ggaggaagaagaggaggaggagg	0.739													2	4	---	---	---	---						-	9595597	GAG	-	9595595	7	5	254	1	0	1	0	1	0	0	0	0	17404	943	33	0	117	0	WEE1	11	9595595	In_Frame_Del	DEL	GAG	TCGA-HT-7609-01A-11D-2086-08		9595595	125410921	22	27250											
PCBP2	5094	broad.mit.edu	37	12	53865444	53865444	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7609-01A-11D-2086-08	TCGA-HT-7609-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5f5c7e-e359-4788-8718-f7fc5164a30d	8f0035fe-017d-4cf6-81b8-79b90a6214c5	g.chr12:53865444G>A	ENST00000603815.1	+	14	1264	c.914G>A	c.(913-915)cGt>cAt	p.R305H	PCBP2_ENST00000548933.1_Missense_Mutation_p.R275H|PCBP2_ENST00000455667.3_Missense_Mutation_p.R258H|PCBP2_ENST00000447282.1_Missense_Mutation_p.R275H|PCBP2_ENST00000359462.5_Missense_Mutation_p.R306H|PCBP2_ENST00000552819.1_Missense_Mutation_p.R262H|PCBP2_ENST00000437231.1_Missense_Mutation_p.R258H|PCBP2_ENST00000439930.3_Missense_Mutation_p.R305H|PCBP2_ENST00000359282.5_Missense_Mutation_p.R271H|PCBP2_ENST00000549863.1_Missense_Mutation_p.R261H|PCBP2_ENST00000546463.1_Missense_Mutation_p.R302H|PCBP2_ENST00000552296.2_Missense_Mutation_p.R301H	NM_001128911.1|NM_001128912.1|NM_005016.5|NM_031989.4	NP_001122383.1|NP_001122384.1|NP_005007.2|NP_114366.1	Q15366	PCBP2_HUMAN	poly(rC) binding protein 2	305	KH 3.				innate immune response|negative regulation of defense response to virus|negative regulation of type I interferon production|nuclear mRNA splicing, via spliceosome|proteasomal ubiquitin-dependent protein catabolic process|response to virus	cytosol|nucleoplasm|ribonucleoprotein complex	DNA binding|RNA binding|ubiquitin protein ligase binding	p.R306H(1)		central_nervous_system(4)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	15						ATAATCGGGCGTCAAGGCGCC	0.498													5	37					0	0	1	0	0	A	53865444	G	A	53865444	3	1	254	1	0	0	0	0	1	0	0	0	11548	1145	40	1	967	1	PCBP2	12	53865444	Missense_Mutation	SNP	G	TCGA-HT-7609-01A-11D-2086-08		53865444	79986451	23	27251											
LRP1	4035	broad.mit.edu	37	12	57601869	57601869	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7609-01A-11D-2086-08	TCGA-HT-7609-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5f5c7e-e359-4788-8718-f7fc5164a30d	8f0035fe-017d-4cf6-81b8-79b90a6214c5	g.chr12:57601869G>A	ENST00000243077.3	+	77	12374	c.11908G>A	c.(11908-11910)Gga>Aga	p.G3970R		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	3970					aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CTGGGTGGCCGGAAACGTGTA	0.577													22	32					0	0	1	0	0	A	57601869	G	A	57601869	3	1	254	1	0	0	0	0	1	0	0	0	8996	1117	39	1	12214	1	LRP1	12	57601869	Missense_Mutation	SNP	G	TCGA-HT-7609-01A-11D-2086-08	3736425	57601869	76250026	24	27252											
ATP12A	479	broad.mit.edu	37	13	25275010	25275010	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7609-01A-11D-2086-08	TCGA-HT-7609-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5f5c7e-e359-4788-8718-f7fc5164a30d	8f0035fe-017d-4cf6-81b8-79b90a6214c5	g.chr13:25275010C>T	ENST00000218548.6	+	13	2182	c.1849C>T	c.(1849-1851)Cgg>Tgg	p.R617W	ATP12A_ENST00000381946.3_Missense_Mutation_p.R611W	NM_001185085.1|NM_001676.5	NP_001172014.1|NP_001667.4	P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	611					ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding			breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)	CGATCCCCCTCGGTCCACCGT	0.483													5	93					0	0	1	0	0	T	25275010	C	T	25275010	3	4	254	1	0	0	0	0	1	0	0	0	1121	875	31	1	1899	1	ATP12A	13	25275010	Missense_Mutation	SNP	C	TCGA-HT-7609-01A-11D-2086-08		25275010	89894868	25	27253											
ATG2B	55102	broad.mit.edu	37	14	96798962	96798962	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7609-01A-11D-2086-08	TCGA-HT-7609-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5f5c7e-e359-4788-8718-f7fc5164a30d	8f0035fe-017d-4cf6-81b8-79b90a6214c5	g.chr14:96798962A>G	ENST00000359933.4	-	9	2131	c.1238T>C	c.(1237-1239)aTg>aCg	p.M413T		NM_018036.5	NP_060506	Q96BY7	ATG2B_HUMAN	autophagy related 2B	413										breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		AGACATGTCCATATCAGCCAT	0.378													7	63					0	0	1	0	0	G	96798962	A	G	96798962	3	3	254	1	0	0	0	0	1	0	0	0	1093	217	8	3	5134	3	ATG2B	14	96798962	Missense_Mutation	SNP	A	TCGA-HT-7609-01A-11D-2086-08		96798962	10550578	26	27254											
TTC23	64927	broad.mit.edu	37	15	99678265	99678265	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7609-01A-11D-2086-08	TCGA-HT-7609-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5f5c7e-e359-4788-8718-f7fc5164a30d	8f0035fe-017d-4cf6-81b8-79b90a6214c5	g.chr15:99678265G>A	ENST00000394132.2	-	14	2111	c.1294C>T	c.(1294-1296)Cct>Tct	p.P432S	TTC23_ENST00000262074.4_Missense_Mutation_p.P432S|TTC23_ENST00000394135.3_Missense_Mutation_p.P432S|TTC23_ENST00000558613.1_Missense_Mutation_p.P432S|TTC23_ENST00000394136.1_Missense_Mutation_p.P432S|TTC23_ENST00000558663.1_Missense_Mutation_p.P432S			Q5W5X9	TTC23_HUMAN	tetratricopeptide repeat domain 23	432							binding			endometrium(2)|large_intestine(3)|lung(9)|urinary_tract(2)	16	all_cancers(4;1.49e-13)|Lung NSC(78;0.000545)|all_lung(78;0.00121)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		all cancers(5;8.11e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00215)			GTGTCCTGAGGGATGCTGGTG	0.607													5	46					0	0	1	0	0	A	99678265	G	A	99678265	3	1	254	1	0	0	0	0	1	0	0	0	16752	1232	43	2	53	2	TTC23	15	99678265	Missense_Mutation	SNP	G	TCGA-HT-7609-01A-11D-2086-08		99678265	2853127	27	27255											
AMFR	267	broad.mit.edu	37	16	56423219	56423219	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7609-01A-11D-2086-08	TCGA-HT-7609-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5f5c7e-e359-4788-8718-f7fc5164a30d	8f0035fe-017d-4cf6-81b8-79b90a6214c5	g.chr16:56423219G>A	ENST00000290649.5	-	9	1364	c.1154C>T	c.(1153-1155)gCc>gTc	p.A385V		NM_001144.5	NP_001135.3	Q9UKV5	AMFR2_HUMAN	autocrine motility factor receptor, E3 ubiquitin protein ligase	385					endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|protein oligomerization|protein polyubiquitination	integral to endoplasmic reticulum membrane|integral to membrane of membrane fraction	protein binding|receptor activity|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17						ATTATTGTCGGCAATATTAAG	0.463													4	110					0	0	1	0	0	A	56423219	G	A	56423219	3	1	254	1	0	0	0	0	1	0	0	0	567	1203	42	2	801	2	AMFR	16	56423219	Missense_Mutation	SNP	G	TCGA-HT-7609-01A-11D-2086-08		56423219	33931534	28	27256											
TP53	7157	broad.mit.edu	37	17	7577120	7577120	+	Missense_Mutation	SNP	C	C	T	rs28934576	by1000genomes	TCGA-HT-7609-01A-11D-2086-08	TCGA-HT-7609-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5f5c7e-e359-4788-8718-f7fc5164a30d	8f0035fe-017d-4cf6-81b8-79b90a6214c5	g.chr17:7577120C>T	ENST00000420246.2	-	8	950	c.818G>A	c.(817-819)cGt>cAt	p.R273H	TP53_ENST00000455263.2_Missense_Mutation_p.R273H|TP53_ENST00000445888.2_Missense_Mutation_p.R273H|TP53_ENST00000269305.4_Missense_Mutation_p.R273H|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.R273H	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	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).		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.R273H(521)|p.R273L(93)|p.R273P(32)|p.0?(8)|p.?(2)|p.R273fs*32(2)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273S(1)|p.E258fs*71(1)|p.R273fs*72(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.R273fs*33(1)|p.E271_R273delEVR(1)|p.V272_K292del21(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	0.542	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)			12	11					0	0	1	0	0	T	7577120	C	T	7577120	3	4	254	1	0	0	0	0	1	0	0	0	16442	536	19	1	468	1	TP53	17	7577120	Missense_Mutation	SNP	C	TCGA-HT-7609-01A-11D-2086-08		7577120	73618090	29	27257											
TP53	7157	broad.mit.edu	37	17	7578176	7578176	+	Splice_Site	SNP	C	C	T			TCGA-HT-7609-01A-11D-2086-08	TCGA-HT-7609-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5f5c7e-e359-4788-8718-f7fc5164a30d	8f0035fe-017d-4cf6-81b8-79b90a6214c5	g.chr17:7578176C>T	ENST00000420246.2	-	6	805		c.e6+1		TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000269305.4_Splice_Site|TP53_ENST00000574684.1_Intron|TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000359597.4_Splice_Site	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53						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.?(56)|p.0?(8)|p.V225fs*24(1)|p.E224_V225insXX(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)		GCAAACCAGACCTCAGGCGGC	0.527		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)			14	22					0	0	1	0	0	T	7578176	C	T	7578176	5	4	254	1	0	0	0	0	0	0	1	0	16442	521	18	2	621	2	TP53	17	7578176	Splice_Site	SNP	C	TCGA-HT-7609-01A-11D-2086-08	1056	7578176	73617034	30	27258											
WDR16	146845	broad.mit.edu	37	17	9546433	9546433	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7609-01A-11D-2086-08	TCGA-HT-7609-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5f5c7e-e359-4788-8718-f7fc5164a30d	8f0035fe-017d-4cf6-81b8-79b90a6214c5	g.chr17:9546433G>A	ENST00000352665.5	+	14	1850	c.1781G>A	c.(1780-1782)cGc>cAc	p.R594H	RP11-55L4.2_ENST00000584676.1_RNA|WDR16_ENST00000299764.5_Missense_Mutation_p.R604H|WDR16_ENST00000396219.3_Missense_Mutation_p.R526H	NM_145054.4	NP_659491.4	Q8N1V2	WDR16_HUMAN	WD repeat domain 16	594						cytoplasm|intracellular membrane-bounded organelle	protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31						ACACGCATCCGCATAAGTCCA	0.453													3	69					0	0	1	0	0	A	9546433	G	A	9546433	3	1	254	1	0	0	0	0	1	0	0	0	17336	1087	38	1	1835	1	WDR16	17	9546433	Missense_Mutation	SNP	G	TCGA-HT-7609-01A-11D-2086-08	1968257	9546433	71648777	31	27259											
KRT26	353288	broad.mit.edu	37	17	38926339	38926339	+	Silent	SNP	G	G	A			TCGA-HT-7609-01A-11D-2086-08	TCGA-HT-7609-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5f5c7e-e359-4788-8718-f7fc5164a30d	8f0035fe-017d-4cf6-81b8-79b90a6214c5	g.chr17:38926339G>A	ENST00000335552.4	-	4	765	c.717C>T	c.(715-717)aaC>aaT	p.N239N		NM_181539.4	NP_853517.2	Q7Z3Y9	K1C26_HUMAN	keratin 26	239	Linker 12.|Rod.					intermediate filament	structural molecule activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(5)	16		Breast(137;0.00526)				CCACGTTCACGTTCCCCCCAG	0.488													61	61					0	0	1	0	0	A	38926339	G	A	38926339	2	1	254	1	0	0	0	0	0	0	0	1	8506	1136	40	1		1	KRT26	17	38926339	Silent	SNP	G	TCGA-HT-7609-01A-11D-2086-08	29379906	38926339	42268871	32	27260											
POU2F2	5452	broad.mit.edu	37	19	42600387	42600387	+	Silent	SNP	G	G	A			TCGA-HT-7609-01A-11D-2086-08	TCGA-HT-7609-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5f5c7e-e359-4788-8718-f7fc5164a30d	8f0035fe-017d-4cf6-81b8-79b90a6214c5	g.chr19:42600387G>A	ENST00000342301.4	-	8	576	c.510C>T	c.(508-510)acC>acT	p.T170T	POU2F2_ENST00000389341.5_Intron|POU2F2_ENST00000560398.1_Intron|POU2F2_ENST00000560558.1_Intron|POU2F2_ENST00000529952.1_Silent_p.T170T|POU2F2_ENST00000533720.1_Intron|POU2F2_ENST00000526816.2_Silent_p.T170T|POU2F2_ENST00000529067.1_Intron			P09086	PO2F2_HUMAN	POU class 2 homeobox 2	170					humoral immune response|transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Prostate(69;0.059)				GCGTAGGGCGGGTCACGGCCT	0.711													3	11					0	0	1	0	0	A	42600387	G	A	42600387	2	1	254	1	0	0	0	0	0	0	0	1	12318	1247	43	2		2	POU2F2	19	42600387	Silent	SNP	G	TCGA-HT-7609-01A-11D-2086-08		42600387	16528596	33	27261											
MYH14	79784	broad.mit.edu	37	19	50720927	50720927	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7609-01A-11D-2086-08	TCGA-HT-7609-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5f5c7e-e359-4788-8718-f7fc5164a30d	8f0035fe-017d-4cf6-81b8-79b90a6214c5	g.chr19:50720927A>G	ENST00000440075.2	+	3	508	c.461A>G	c.(460-462)tAc>tGc	p.Y154C	MYH14_ENST00000425460.1_Missense_Mutation_p.Y154C|MYH14_ENST00000596571.1_Missense_Mutation_p.Y154C|MYH14_ENST00000598205.1_Missense_Mutation_p.Y154C|MYH14_ENST00000601313.1_Missense_Mutation_p.Y154C|MYH14_ENST00000262269.8_Missense_Mutation_p.Y154C|MYH14_ENST00000376970.2_Missense_Mutation_p.Y154C			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	154	Myosin head-like.				axon guidance|regulation of cell shape	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		CTTCCCATCTACACAGAAGCC	0.607													53	73					0	0	1	0	0	G	50720927	A	G	50720927	3	3	254	1	0	0	0	0	1	0	0	0	10081	391	14	3	467	3	MYH14	19	50720927	Missense_Mutation	SNP	A	TCGA-HT-7609-01A-11D-2086-08	8120540	50720927	8408056	34	27262											
LILRB2	10288	broad.mit.edu	37	19	54782405	54782405	+	Missense_Mutation	SNP	C	C	A			TCGA-HT-7609-01A-11D-2086-08	TCGA-HT-7609-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5f5c7e-e359-4788-8718-f7fc5164a30d	8f0035fe-017d-4cf6-81b8-79b90a6214c5	g.chr19:54782405C>A	ENST00000391748.1	-	7	1094	c.967G>T	c.(967-969)Ggc>Tgc	p.G323C	LILRB2_ENST00000434421.1_Missense_Mutation_p.G207C|LILRB2_ENST00000391746.1_Missense_Mutation_p.G323C|LILRB2_ENST00000314446.5_Missense_Mutation_p.G323C|LILRB2_ENST00000391749.4_Missense_Mutation_p.G323C	NM_001278403.1	NP_001265332.1	Q8N423	LIRB2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2	323					cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		AAGGGTGTGCCACGGATCTGT	0.597													6	50					0.0215528	0.0224699	1	1	0	A	54782405	C	A	54782405	3	1	254	1	0	0	0	0	1	0	0	0	8831	594	21	5	861	5	LILRB2	19	54782405	Missense_Mutation	SNP	C	TCGA-HT-7609-01A-11D-2086-08	4061478	54782405	4346578	35	27263											
SH3BP1	23616	broad.mit.edu	37	22	38039752	38039754	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-HT-7609-01A-11D-2086-08	TCGA-HT-7609-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5f5c7e-e359-4788-8718-f7fc5164a30d	8f0035fe-017d-4cf6-81b8-79b90a6214c5	g.chr22:38039752_38039754delAGG	ENST00000599616.1	+	5	383_385	c.383_385delAGG	c.(382-387)aaggag>aag	p.E133del	SH3BP1_ENST00000336738.5_In_Frame_Del_p.E197del|Z83844.1_ENST00000456099.1_RNA|SH3BP1_ENST00000357436.4_In_Frame_Del_p.E197del|SH3BP1_ENST00000442465.2_In_Frame_Del_p.E197del|SH3BP1_ENST00000495174.1_3'UTR			Q9Y3L3	3BP1_HUMAN	SH3-domain binding protein 1	197	BAR.				signal transduction	cytoplasm	GTPase activator activity|SH3 domain binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	Melanoma(58;0.0574)					GAGACGCTGAAGGAGGAGGAGGA	0.606											OREG0026546	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	127	---	---	---	---						-	38039754	AGG	-	38039752	7	5	254	1	0	1	0	1	0	0	0	0	14298	72	3	0	601	0	SH3BP1	22	38039752	In_Frame_Del	DEL	AGG	TCGA-HT-7609-01A-11D-2086-08		38039752	13264814	36	27264											
EIF1AX	1964	broad.mit.edu	37	X	20156729	20156729	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7609-01A-11D-2086-08	TCGA-HT-7609-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5f5c7e-e359-4788-8718-f7fc5164a30d	8f0035fe-017d-4cf6-81b8-79b90a6214c5	g.chrX:20156729T>C	ENST00000379607.5	-	2	231	c.28A>G	c.(28-30)Aaa>Gaa	p.K10E	EIF1AX_ENST00000379593.1_Intron	NM_001412.3	NP_001403.1	P47813	IF1AX_HUMAN	eukaryotic translation initiation factor 1A, X-linked	10						cytosol	translation initiation factor activity			endometrium(2)|lung(1)|ovary(1)|prostate(1)	5						CGTCTGTTTTTACCTCCTTTA	0.308													35	5					0	0	1	0	0	C	20156729	T	C	20156729	3	2	254	1	0	0	0	0	1	0	0	0	5018	1763	61	3	430	3	EIF1AX	23	20156729	Missense_Mutation	SNP	T	TCGA-HT-7609-01A-11D-2086-08		20156729	135113831	37	27265											
ITGB1BP2	26548	broad.mit.edu	37	X	70524875	70524875	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7609-01A-11D-2086-08	TCGA-HT-7609-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5f5c7e-e359-4788-8718-f7fc5164a30d	8f0035fe-017d-4cf6-81b8-79b90a6214c5	g.chrX:70524875G>A	ENST00000538820.1	+	10	1163	c.823G>A	c.(823-825)Gtc>Atc	p.V275I	ITGB1BP2_ENST00000373829.3_Missense_Mutation_p.V293I			Q9UKP3	ITBP2_HUMAN	integrin beta 1 binding protein (melusin) 2	293	CS.				muscle organ development|signal transduction		SH3 domain binding			breast(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)	14	Renal(35;0.156)					AATCTCCCTGGTCAAGGCTGA	0.517													17	19					0	0	1	0	0	A	70524875	G	A	70524875	3	1	254	1	0	0	0	0	1	0	0	0	7936	1261	44	2	919	2	ITGB1BP2	23	70524875	Missense_Mutation	SNP	G	TCGA-HT-7609-01A-11D-2086-08	50368146	70524875	84745685	38	27266											
PCDH19	57526	broad.mit.edu	37	X	99661766	99661766	+	Silent	SNP	G	G	A			TCGA-HT-7609-01A-11D-2086-08	TCGA-HT-7609-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5f5c7e-e359-4788-8718-f7fc5164a30d	8f0035fe-017d-4cf6-81b8-79b90a6214c5	g.chrX:99661766G>A	ENST00000373034.4	-	1	3505	c.1830C>T	c.(1828-1830)ggC>ggT	p.G610G	PCDH19_ENST00000255531.7_Silent_p.G610G|PCDH19_ENST00000420881.2_Silent_p.G610G	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	610	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						AGCCGCGGTCGCCCTCGGTCA	0.562													3	33					0	0	1	0	0	A	99661766	G	A	99661766	2	1	254	1	0	0	0	0	0	0	0	1	11561	1074	38	1		1	PCDH19	23	99661766	Silent	SNP	G	TCGA-HT-7609-01A-11D-2086-08	29136891	99661766	55608794	39	27267											
OCRL	4952	broad.mit.edu	37	X	128710473	128710473	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-7609-01A-11D-2086-08	TCGA-HT-7609-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5f5c7e-e359-4788-8718-f7fc5164a30d	8f0035fe-017d-4cf6-81b8-79b90a6214c5	g.chrX:128710473C>G	ENST00000371113.4	+	18	2224	c.2059C>G	c.(2059-2061)Ctg>Gtg	p.L687V	OCRL_ENST00000357121.5_Missense_Mutation_p.L687V	NM_000276.3	NP_000267.2	Q01968	OCRL_HUMAN	oculocerebrorenal syndrome of Lowe	687					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	clathrin-coated vesicle|cytosol|early endosome|Golgi stack|Golgi-associated vesicle	GTPase activator activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding			breast(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|upper_aerodigestive_tract(3)	48						CTTAGAGGCTCTGTGCCGTAT	0.403													41	7					0	0	1	0	0	G	128710473	C	G	128710473	3	3	254	1	0	0	0	0	1	0	0	0	10871	912	32	4	2129	4	OCRL	23	128710473	Missense_Mutation	SNP	C	TCGA-HT-7609-01A-11D-2086-08	29048707	128710473	26560087	40	27268											
GPC3	2719	broad.mit.edu	37	X	133119384	133119386	+	In_Frame_Del	DEL	CGG	CGG	-			TCGA-HT-7609-01A-11D-2086-08	TCGA-HT-7609-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5f5c7e-e359-4788-8718-f7fc5164a30d	8f0035fe-017d-4cf6-81b8-79b90a6214c5	g.chrX:133119384_133119386delCGG	ENST00000370818.3	-	1	536_538	c.91_93delCCG	c.(91-93)ccgdel	p.P31del	GPC3_ENST00000543339.1_In_Frame_Del_p.P31del|GPC3_ENST00000394299.2_In_Frame_Del_p.P31del	NM_001164618.1|NM_004484.3	NP_001158090.1|NP_004475.1	P51654	GPC3_HUMAN	glypican 3	31						extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding|peptidyl-dipeptidase inhibitor activity			breast(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|prostate(1)|skin(2)	36	Acute lymphoblastic leukemia(192;0.000127)					AGGTGGCGTCCGGCGGCGGCGGC	0.69			"T, D, Mis, N, F, S"			Wilms tumour			Simpson-Golabi-Behmel syndrome				3	6	---	---	---	---						-	133119386	CGG	-	133119384	7	5	254	1	0	1	0	1	0	0	0	0	6639	639	23	0	1754	0	GPC3	23	133119384	In_Frame_Del	DEL	CGG	TCGA-HT-7609-01A-11D-2086-08	4408911	133119384	22151176	41	27269											
SAGE1	55511	broad.mit.edu	37	X	134988660	134988660	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7609-01A-11D-2086-08	TCGA-HT-7609-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5f5c7e-e359-4788-8718-f7fc5164a30d	8f0035fe-017d-4cf6-81b8-79b90a6214c5	g.chrX:134988660G>A	ENST00000535938.1	+	7	853	c.686G>A	c.(685-687)cGt>cAt	p.R229H	SAGE1_ENST00000324447.3_Missense_Mutation_p.R229H|SAGE1_ENST00000370709.3_Missense_Mutation_p.R229H|SAGE1_ENST00000537770.1_Intron	NM_018666.2	NP_061136.2	Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	229										breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55	Acute lymphoblastic leukemia(192;0.000127)					CGACCACGGCGTATTAATATG	0.423													5	129					0	0	1	0	0	A	134988660	G	A	134988660	3	1	254	1	0	0	0	0	1	0	0	0	13861	1145	40	1	708	1	SAGE1	23	134988660	Missense_Mutation	SNP	G	TCGA-HT-7609-01A-11D-2086-08	1869276	134988660	20281900	42	27270											
F5	2153	broad.mit.edu	37	1	169519050	169519050	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HT-7610-01A-21D-2086-08	TCGA-HT-7610-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a5d3919-f656-43ca-ab7a-e7df56b6cdbe	49080164-b5e3-47b2-a79a-784695523809	g.chr1:169519050G>A	ENST00000367796.3	-	10	1801	c.1600C>T	c.(1600-1602)Caa>Taa	p.Q534*	F5_ENST00000367797.3_Nonsense_Mutation_p.Q534*|F5_ENST00000546081.1_3'UTR			P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	534	F5/8 type A 2.	Cleavage; by activated protein C.	R -> Q (in Leiden; associated with THR- APCR; associated with susceptibility to Budd-Chiari syndrome; associated with susceptibility to ischemic stroke; dbSNP:rs6025).		cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	TGTATTCCTTGCCTGTCCAGG	0.428													4	35					0	0	1	0	0	A	169519050	G	A	169519050	4	1	255	1	0	0	0	0	0	1	0	0	5376	1328	46	2	5138	2	F5	1	169519050	Nonsense_Mutation	SNP	G	TCGA-HT-7610-01A-21D-2086-08		169519050	79731571	1	27271											
LAMC1	3915	broad.mit.edu	37	1	183087214	183087214	+	Silent	SNP	T	T	C			TCGA-HT-7610-01A-21D-2086-08	TCGA-HT-7610-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a5d3919-f656-43ca-ab7a-e7df56b6cdbe	49080164-b5e3-47b2-a79a-784695523809	g.chr1:183087214T>C	ENST00000258341.4	+	11	2180	c.1923T>C	c.(1921-1923)ccT>ccC	p.P641P		NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)	641	Laminin IV type A.				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent	p.P641P(1)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CTCTTACCCCTTTTGAATTTC	0.418													3	53					0	0	1	0	0	C	183087214	T	C	183087214	2	2	255	1	0	0	0	0	0	0	0	1	8653	1596	56	3		3	LAMC1	1	183087214	Silent	SNP	T	TCGA-HT-7610-01A-21D-2086-08	13568164	183087214	66163407	2	27272											
ABCG5	64240	broad.mit.edu	37	2	44047075	44047075	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7610-01A-21D-2086-08	TCGA-HT-7610-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a5d3919-f656-43ca-ab7a-e7df56b6cdbe	49080164-b5e3-47b2-a79a-784695523809	g.chr2:44047075A>G	ENST00000543989.1	-	7	2148	c.443T>C	c.(442-444)cTt>cCt	p.L148P	ABCG5_ENST00000405322.1_Missense_Mutation_p.L372P|ABCG5_ENST00000260645.1_Missense_Mutation_p.L543P			Q9H222	ABCG5_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 5	543	ABC transporter.				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity			breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				AGATCCAACAAGCACCCCCGC	0.368													18	89					0	0	1	0	0	G	44047075	A	G	44047075	3	3	255	1	0	0	0	0	1	0	0	0	71	72	3	3	339	3	ABCG5	2	44047075	Missense_Mutation	SNP	A	TCGA-HT-7610-01A-21D-2086-08		44047075	199152298	3	27273											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-HT-7610-01A-21D-2086-08	TCGA-HT-7610-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a5d3919-f656-43ca-ab7a-e7df56b6cdbe	49080164-b5e3-47b2-a79a-784695523809	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	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								25	60					0	0	1	0	0	T	209113112	C	T	209113112	3	4	255	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HT-7610-01A-21D-2086-08	165066037	209113112	34086261	4	27274											
CPS1	1373	broad.mit.edu	37	2	211454894	211454894	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HT-7610-01A-21D-2086-08	TCGA-HT-7610-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a5d3919-f656-43ca-ab7a-e7df56b6cdbe	49080164-b5e3-47b2-a79a-784695523809	g.chr2:211454894delT	ENST00000233072.5	+	8	972	c.776delT	c.(775-777)attfs	p.I259fs	CPS1_ENST00000430249.2_Frame_Shift_Del_p.I265fs	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	259	Glutamine amidotransferase type-1.				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		TATGATGGGATTTTGATCGCG	0.448													15	361	---	---	---	---						-	211454894	T	-	211454894	7	5	255	1	0	1	0	1	0	0	0	0	3846	1493	52	0	828	0	CPS1	2	211454894	Frame_Shift_Del	DEL	T	TCGA-HT-7610-01A-21D-2086-08	2341782	211454894	31744479	5	27275											
TRIP12	9320	broad.mit.edu	37	2	230668911	230668911	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HT-7610-01A-21D-2086-08	TCGA-HT-7610-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a5d3919-f656-43ca-ab7a-e7df56b6cdbe	49080164-b5e3-47b2-a79a-784695523809	g.chr2:230668911G>A	ENST00000283943.5	-	18	2636	c.2458C>T	c.(2458-2460)Cga>Tga	p.R820*	TRIP12_ENST00000389044.4_Nonsense_Mutation_p.R868*|TRIP12_ENST00000389045.3_Nonsense_Mutation_p.R550*|TRIP12_ENST00000543084.1_Intron	NM_001284214.1|NM_004238.1	NP_001271143.1|NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	820	WWE.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		AGCTGTGCTCGAGCATCATCC	0.363													28	51					0	0	1	0	0	A	230668911	G	A	230668911	4	1	255	1	0	0	0	0	0	1	0	0	16617	1066	37	1	3616	1	TRIP12	2	230668911	Nonsense_Mutation	SNP	G	TCGA-HT-7610-01A-21D-2086-08	19214017	230668911	12530462	6	27276											
ASTE1	28990	broad.mit.edu	37	3	130732931	130732931	+	Silent	SNP	C	C	T			TCGA-HT-7610-01A-21D-2086-08	TCGA-HT-7610-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a5d3919-f656-43ca-ab7a-e7df56b6cdbe	49080164-b5e3-47b2-a79a-784695523809	g.chr3:130732931C>T	ENST00000264992.3	-	6	2451	c.2010G>A	c.(2008-2010)gaG>gaA	p.E670E	ASTE1_ENST00000514044.1_Silent_p.E695E|ATP2C1_ENST00000328560.8_Intron|ATP2C1_ENST00000507488.2_Intron|ATP2C1_ENST00000422190.2_Intron|ATP2C1_ENST00000513801.1_Intron|ATP2C1_ENST00000393221.4_Intron|ATP2C1_ENST00000533801.2_Intron|ATP2C1_ENST00000504381.1_Intron|ATP2C1_ENST00000359644.3_Intron	NM_014065.2	NP_054784.2	Q2TB18	ASTE1_HUMAN	asteroid homolog 1 (Drosophila)	670					DNA repair		nuclease activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)	22						CACTATGTTCCTCTAAGTTTT	0.393													12	57					0	0	1	0	0	T	130732931	C	T	130732931	2	4	255	1	0	0	0	0	0	0	0	1	1061	680	24	2		2	ASTE1	3	130732931	Silent	SNP	C	TCGA-HT-7610-01A-21D-2086-08		130732931	67289499	7	27277											
LPHN3	23284	broad.mit.edu	37	4	62813869	62813869	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7610-01A-21D-2086-08	TCGA-HT-7610-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a5d3919-f656-43ca-ab7a-e7df56b6cdbe	49080164-b5e3-47b2-a79a-784695523809	g.chr4:62813869C>T	ENST00000512091.2	+	16	3223	c.2476C>T	c.(2476-2478)Cgt>Tgt	p.R826C	LPHN3_ENST00000507625.1_Missense_Mutation_p.R894C|LPHN3_ENST00000506746.1_Missense_Mutation_p.R894C|LPHN3_ENST00000506700.1_Missense_Mutation_p.R826C|LPHN3_ENST00000509896.1_Missense_Mutation_p.R894C|LPHN3_ENST00000545650.1_Missense_Mutation_p.R826C|LPHN3_ENST00000511324.1_Missense_Mutation_p.R894C|LPHN3_ENST00000507164.1_Missense_Mutation_p.R894C|LPHN3_ENST00000514157.1_Missense_Mutation_p.R826C|LPHN3_ENST00000508693.1_Missense_Mutation_p.R894C|LPHN3_ENST00000506720.1_Missense_Mutation_p.R894C|LPHN3_ENST00000508946.1_Missense_Mutation_p.R826C|LPHN3_ENST00000504896.1_Missense_Mutation_p.R826C|LPHN3_ENST00000514591.1_Missense_Mutation_p.R826C|LPHN3_ENST00000514996.1_Missense_Mutation_p.R826C			Q9HAR2	LPHN3_HUMAN	latrophilin 3		GPS.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						CTACTCCAAGCGTACAATGAC	0.388													5	20					0	0	1	0	0	T	62813869	C	T	62813869	3	4	255	1	0	0	0	0	1	0	0	0	8962	768	27	1	2530	1	LPHN3	4	62813869	Missense_Mutation	SNP	C	TCGA-HT-7610-01A-21D-2086-08		62813869	128340407	8	27278											
KCNU1	157855	broad.mit.edu	37	8	36721928	36721928	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HT-7610-01A-21D-2086-08	TCGA-HT-7610-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a5d3919-f656-43ca-ab7a-e7df56b6cdbe	49080164-b5e3-47b2-a79a-784695523809	g.chr8:36721928C>A	ENST00000399881.3	+	19	1935	c.1898C>A	c.(1897-1899)tCg>tAg	p.S633*		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	633						voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		GCAGTGCCATCGGTAAAGAGA	0.448													4	68					0.00909568	0.00947467	1	1	0	A	36721928	C	A	36721928	4	1	255	1	0	0	0	0	0	1	0	0	8137	893	31	5	1972	5	KCNU1	8	36721928	Nonsense_Mutation	SNP	C	TCGA-HT-7610-01A-21D-2086-08		36721928	109642094	9	27279											
GPR124	25960	broad.mit.edu	37	8	37698691	37698691	+	Silent	SNP	C	C	T			TCGA-HT-7610-01A-21D-2086-08	TCGA-HT-7610-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a5d3919-f656-43ca-ab7a-e7df56b6cdbe	49080164-b5e3-47b2-a79a-784695523809	g.chr8:37698691C>T	ENST00000315215.7	+	16	2547	c.2184C>T	c.(2182-2184)tgC>tgT	p.C728C	GPR124_ENST00000412232.2_Silent_p.C945C			Q96PE1	GP124_HUMAN	G protein-coupled receptor 124	945	GPS.				central nervous system development|endothelial cell migration|neuropeptide signaling pathway|regulation of angiogenesis|regulation of chemotaxis|sprouting angiogenesis	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37			BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			ATTTCCTGTGCGCCGGGCTAC	0.627													10	84					0	0	1	0	0	T	37698691	C	T	37698691	2	4	255	1	0	0	0	0	0	0	0	1	6678	776	27	1		1	GPR124	8	37698691	Silent	SNP	C	TCGA-HT-7610-01A-21D-2086-08	976763	37698691	108665331	10	27280											
PAPOLA	10914	broad.mit.edu	37	14	97031339	97031339	+	Missense_Mutation	SNP	T	T	G			TCGA-HT-7610-01A-21D-2086-08	TCGA-HT-7610-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a5d3919-f656-43ca-ab7a-e7df56b6cdbe	49080164-b5e3-47b2-a79a-784695523809	g.chr14:97031339T>G	ENST00000216277.8	+	22	2410	c.2190T>G	c.(2188-2190)aaT>aaG	p.N730K	PAPOLA_ENST00000392990.2_Missense_Mutation_p.N709K	NM_032632.4	NP_116021.2	P51003	PAPOA_HUMAN	poly(A) polymerase alpha	730	Required for interaction with NUDT21.				mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	cytoplasm|nucleoplasm	ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|RNA binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(1)	21		all_cancers(154;0.0555)|all_epithelial(191;0.149)|Melanoma(154;0.155)		COAD - Colon adenocarcinoma(157;0.213)		TCCCTGCAAATCCTATTCCTG	0.373													28	60					0	0	1	0	0	G	97031339	T	G	97031339	3	3	255	1	0	0	0	0	1	0	0	0	11476	1432	50	4	2276	4	PAPOLA	14	97031339	Missense_Mutation	SNP	T	TCGA-HT-7610-01A-21D-2086-08		97031339	10318201	11	27281											
SLC12A1	6557	broad.mit.edu	37	15	48580649	48580649	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HT-7610-01A-21D-2086-08	TCGA-HT-7610-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a5d3919-f656-43ca-ab7a-e7df56b6cdbe	49080164-b5e3-47b2-a79a-784695523809	g.chr15:48580649delA	ENST00000396577.3	+	23	3024	c.2809delA	c.(2809-2811)aaafs	p.K937fs	SLC12A1_ENST00000558405.1_Frame_Shift_Del_p.K937fs|SLC12A1_ENST00000380993.3_Frame_Shift_Del_p.K937fs	NM_001184832.1	NP_001171761.1	Q13621	S12A1_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 1	937					potassium ion transport|sodium ion transport	integral to membrane|membrane fraction	sodium:potassium:chloride symporter activity			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1)	59		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	AAAAAAATGGAAAGACTGTAA	0.328													2	4	---	---	---	---						-	48580649	A	-	48580649	7	5	255	1	0	1	0	1	0	0	0	0	14437	247	9	0	2995	0	SLC12A1	15	48580649	Frame_Shift_Del	DEL	A	TCGA-HT-7610-01A-21D-2086-08		48580649	53950743	12	27282											
HBZ	3050	broad.mit.edu	37	16	202926	202926	+	Silent	SNP	T	T	C			TCGA-HT-7610-01A-21D-2086-08	TCGA-HT-7610-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a5d3919-f656-43ca-ab7a-e7df56b6cdbe	49080164-b5e3-47b2-a79a-784695523809	g.chr16:202926T>C	ENST00000252951.2	+	1	241	c.18T>C	c.(16-18)acT>acC	p.T6T		NM_005332.2	NP_005323.1	P02008	HBAZ_HUMAN	hemoglobin, zeta	6						hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity						all_cancers(16;4.28e-07)|all_epithelial(16;2.09e-06)|Hepatocellular(16;0.000325)|Lung NSC(18;0.0104)|all_lung(18;0.0239)				TGACCAAGACTGAGAGGACCA	0.612											OREG0003684	type=REGULATORY REGION|Gene=HBZ|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	20	39					0	0	1	0	0	C	202926	T	C	202926	2	2	255	1	0	0	0	0	0	0	0	1	7030	1567	55	3		3	HBZ	16	202926	Silent	SNP	T	TCGA-HT-7610-01A-21D-2086-08		202926	90151827	13	27283											
SENP3	26168	broad.mit.edu	37	17	7474041	7474041	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HT-7610-01A-21D-2086-08	TCGA-HT-7610-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a5d3919-f656-43ca-ab7a-e7df56b6cdbe	49080164-b5e3-47b2-a79a-784695523809	g.chr17:7474041C>T	ENST00000321337.7	+	10	1839	c.1519C>T	c.(1519-1521)Cga>Tga	p.R507*	SENP3_ENST00000429205.2_Nonsense_Mutation_p.R508*|SENP3_ENST00000578868.1_3'UTR|SENP3-EIF4A1_ENST00000579777.1_RNA	NM_015670.5	NP_056485.2	Q9H4L4	SENP3_HUMAN	SUMO1/sentrin/SMT3 specific peptidase 3	508	Protease.				proteolysis	MLL1 complex|nucleolus	cysteine-type peptidase activity			central_nervous_system(1)|ovary(1)	2		Prostate(122;0.157)				AAAGAAAGACCGACTGGATTT	0.473													6	17					0	0	1	0	0	T	7474041	C	T	7474041	4	4	255	1	0	0	0	0	0	1	0	0	14102	644	23	1	1553	1	SENP3	17	7474041	Nonsense_Mutation	SNP	C	TCGA-HT-7610-01A-21D-2086-08		7474041	73721169	14	27284											
TP53	7157	broad.mit.edu	37	17	7577593	7577593	+	Missense_Mutation	SNP	T	T	G			TCGA-HT-7610-01A-21D-2086-08	TCGA-HT-7610-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a5d3919-f656-43ca-ab7a-e7df56b6cdbe	49080164-b5e3-47b2-a79a-784695523809	g.chr17:7577593T>G	ENST00000420246.2	-	7	820	c.688A>C	c.(688-690)Acc>Ccc	p.T230P	TP53_ENST00000455263.2_Missense_Mutation_p.T230P|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000445888.2_Missense_Mutation_p.T230P|TP53_ENST00000269305.4_Missense_Mutation_p.T230P|TP53_ENST00000413465.2_Missense_Mutation_p.T230P|TP53_ENST00000359597.4_Missense_Mutation_p.T230P	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	230	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		T -> A (in sporadic cancers; somatic mutation).|T -> I (in sporadic cancers; somatic mutation).|T -> N (in sporadic cancers; somatic mutation).|T -> P (in sporadic cancers; somatic mutation).|T -> 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.0?(8)|p.?(5)|p.T230P(2)|p.T230fs*6(2)|p.T230S(2)|p.C229_H233delCTTIH(2)|p.T230fs*17(2)|p.T230fs*9(1)|p.T230_Y234delTTIHY(1)|p.C229_T230insX(1)|p.V225fs*23(1)|p.D228fs*12(1)|p.C229_I232del(1)|p.S227_I232delSDCTTI(1)|p.T230A(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)		TGGATGGTGGTACAGTCAGAG	0.532		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)			17	47					0	0	1	0	0	G	7577593	T	G	7577593	3	3	255	1	0	0	0	0	1	0	0	0	16442	1638	57	5	602	5	TP53	17	7577593	Missense_Mutation	SNP	T	TCGA-HT-7610-01A-21D-2086-08	103552	7577593	73617617	15	27285											
TP53	7157	broad.mit.edu	37	17	7578507	7578507	+	Missense_Mutation	SNP	G	G	C			TCGA-HT-7610-01A-21D-2086-08	TCGA-HT-7610-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a5d3919-f656-43ca-ab7a-e7df56b6cdbe	49080164-b5e3-47b2-a79a-784695523809	g.chr17:7578507G>C	ENST00000420246.2	-	5	555	c.423C>G	c.(421-423)tgC>tgG	p.C141W	TP53_ENST00000455263.2_Missense_Mutation_p.C141W|TP53_ENST00000445888.2_Missense_Mutation_p.C141W|TP53_ENST00000269305.4_Missense_Mutation_p.C141W|TP53_ENST00000413465.2_Missense_Mutation_p.C141W|TP53_ENST00000359597.4_Missense_Mutation_p.C141W	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	141	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		C -> A (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.C141W(13)|p.C141*(11)|p.0?(8)|p.A138_P142delAKTCP(4)|p.C141C(4)|p.N131fs*27(2)|p.P142fs*7(1)|p.L137_W146del10(1)|p.C141A(1)|p.C9W(1)|p.A6_P10delAKTCP(1)|p.K139fs*4(1)|p.A45_P49delAKTCP(1)|p.T140fs*28(1)|p.A138_V143delAKTCPV(1)|p.C141fs*5(1)|p.P142del(1)|p.C48W(1)|p.C141_P142insXX(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)		GCTGCACAGGGCAGGTCTTGG	0.577		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)			24	26					0	0	1	0	0	C	7578507	G	C	7578507	3	2	255	1	0	0	0	0	1	0	0	0	16442	1195	42	5	875	5	TP53	17	7578507	Missense_Mutation	SNP	G	TCGA-HT-7610-01A-21D-2086-08	914	7578507	73616703	16	27286											
KRT27	342574	broad.mit.edu	37	17	38936093	38936093	+	Silent	SNP	G	G	A			TCGA-HT-7610-01A-21D-2086-08	TCGA-HT-7610-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a5d3919-f656-43ca-ab7a-e7df56b6cdbe	49080164-b5e3-47b2-a79a-784695523809	g.chr17:38936093G>A	ENST00000301656.3	-	4	745	c.705C>T	c.(703-705)tgC>tgT	p.C235C		NM_181537.3	NP_853515.2	Q7Z3Y8	K1C27_HUMAN	keratin 27	235	Linker 12.|Rod.					cytoplasm|intermediate filament	structural molecule activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(3)|skin(1)|stomach(1)	21		Breast(137;0.000812)				CTCCAGCCGCGCACTGAAGAG	0.483													10	35					0	0	1	0	0	A	38936093	G	A	38936093	2	1	255	1	0	0	0	0	0	0	0	1	8507	1079	38	1		1	KRT27	17	38936093	Silent	SNP	G	TCGA-HT-7610-01A-21D-2086-08	31357586	38936093	42259117	17	27287											
FAM47C	442444	broad.mit.edu	37	X	37028425	37028425	+	Missense_Mutation	SNP	A	A	G	rs145580328	byFrequency	TCGA-HT-7610-01A-21D-2086-08	TCGA-HT-7610-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a5d3919-f656-43ca-ab7a-e7df56b6cdbe	49080164-b5e3-47b2-a79a-784695523809	g.chrX:37028425A>G	ENST00000358047.3	+	1	1994	c.1942A>G	c.(1942-1944)Aat>Gat	p.N648D		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	648								p.N648D(7)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						GGAGCCTCCCAATACTGGAGT	0.642													6	98					0	0	1	0	0	G	37028425	A	G	37028425	3	3	255	1	0	0	0	0	1	0	0	0	5607	130	5	3	1944	3	FAM47C	23	37028425	Missense_Mutation	SNP	A	TCGA-HT-7610-01A-21D-2086-08		37028425	118242135	18	27288											
BCOR	54880	broad.mit.edu	37	X	39931690	39931690	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7610-01A-21D-2086-08	TCGA-HT-7610-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a5d3919-f656-43ca-ab7a-e7df56b6cdbe	49080164-b5e3-47b2-a79a-784695523809	g.chrX:39931690G>A	ENST00000342274.4	-	4	3271	c.2909C>T	c.(2908-2910)gCg>gTg	p.A970V	BCOR_ENST00000397354.3_Missense_Mutation_p.A970V|BCOR_ENST00000378444.4_Missense_Mutation_p.A970V|BCOR_ENST00000378455.4_Missense_Mutation_p.A970V	NM_001123383.1	NP_001116855.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	970					heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						CACGTAACCCGCTGAGTTGGC	0.527			"F, N, S, T"	RARA	"retinoblastoma, AML, APL(translocation)"		oculo-facio-cardio-dental genetic						4	24					0	0	1	0	0	A	39931690	G	A	39931690	3	1	255	1	0	0	0	0	1	0	0	0	1384	1087	38	1	2406	1	BCOR	23	39931690	Missense_Mutation	SNP	G	TCGA-HT-7610-01A-21D-2086-08	2903265	39931690	115338870	19	27289											
ATRX	546	broad.mit.edu	37	X	76890083	76890083	+	Splice_Site	SNP	A	A	C			TCGA-HT-7610-01A-21D-2086-08	TCGA-HT-7610-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a5d3919-f656-43ca-ab7a-e7df56b6cdbe	49080164-b5e3-47b2-a79a-784695523809	g.chrX:76890083A>C	ENST00000373344.5	-	17	5024		c.e17+1		ATRX_ENST00000480283.1_Splice_Site|ATRX_ENST00000395603.3_Splice_Site	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked						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)	TTCAGCTCTTACCTGTAAAGT	0.398			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						31	65					0	0	1	0	0	C	76890083	A	C	76890083	5	2	255	1	0	0	0	0	0	0	1	0	1206	405	14	5	2743	5	ATRX	23	76890083	Splice_Site	SNP	A	TCGA-HT-7610-01A-21D-2086-08	36958393	76890083	78380477	20	27290											
STAG2	10735	broad.mit.edu	37	X	123196967	123196967	+	Splice_Site	SNP	A	A	T			TCGA-HT-7610-01A-21D-2086-08	TCGA-HT-7610-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a5d3919-f656-43ca-ab7a-e7df56b6cdbe	49080164-b5e3-47b2-a79a-784695523809	g.chrX:123196967A>T	ENST00000371160.1	+	19	2023	c.1733A>T	c.(1732-1734)tAc>tTc	p.Y578F	STAG2_ENST00000218089.9_Splice_Site_p.Y578F|STAG2_ENST00000371157.3_Splice_Site_p.Y578F|STAG2_ENST00000371144.3_Splice_Site_p.Y578F|STAG2_ENST00000371145.3_Splice_Site_p.Y578F|STAG2_ENST00000354548.5_Splice_Site_p.Y509F|STAG2_ENST00000469481.1_Intron	NM_001282418.1	NP_001269347.1	Q8N3U4	STAG2_HUMAN	stromal antigen 2	578					cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						ATTTCACAGTACTCTGTAGAT	0.313													8	19					0	0	1	0	0	T	123196967	A	T	123196967	5	4	255	1	0	0	0	0	0	0	1	0	15299	405	14	5	1799	5	STAG2	23	123196967	Splice_Site	SNP	A	TCGA-HT-7610-01A-21D-2086-08	46306884	123196967	32073593	21	27291											
ATAD3C	219293	broad.mit.edu	37	1	1396282	1396282	+	Missense_Mutation	SNP	C	C	A			TCGA-HT-7611-01A-11D-2395-08	TCGA-HT-7611-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60b581b-2e7d-4c89-af6f-2de8cf79bcd7	cbdff4de-7729-4d99-b9be-f4807a99630f	g.chr1:1396282C>A	ENST00000378785.2	+	10	1960	c.965C>A	c.(964-966)gCc>gAc	p.A322D		NM_001039211.2	NP_001034300.2	Q5T2N8	ATD3C_HUMAN	ATPase family, AAA domain containing 3C	322							ATP binding|nucleoside-triphosphatase activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|lung(4)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		CTTAAGCCGGCCACAGAAGGA	0.627													7	36					0.0293803	0.0293803	1	1	0	A	1396282	C	A	1396282	3	1	256	1	0	0	0	0	1	0	0	0	1074	739	26	5	1003	5	ATAD3C	1	1396282	Missense_Mutation	SNP	C	TCGA-HT-7611-01A-11D-2395-08		1396282	247854339	1	27292											
ARID1A	8289	broad.mit.edu	37	1	27056286	27056286	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HT-7611-01A-11D-2395-08	TCGA-HT-7611-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60b581b-2e7d-4c89-af6f-2de8cf79bcd7	cbdff4de-7729-4d99-b9be-f4807a99630f	g.chr1:27056286C>T	ENST00000324856.7	+	2	1653	c.1282C>T	c.(1282-1284)Cag>Tag	p.Q428*	ARID1A_ENST00000457599.2_Nonsense_Mutation_p.Q428*|ARID1A_ENST00000374152.2_Nonsense_Mutation_p.Q45*	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	428					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CCAGACCCCGCAGCGGTACCC	0.607			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"								11	81					0	0	1	0	0	T	27056286	C	T	27056286	4	4	256	1	0	0	0	0	0	1	0	0	910	711	25	2	1288	2	ARID1A	1	27056286	Nonsense_Mutation	SNP	C	TCGA-HT-7611-01A-11D-2395-08	25660004	27056286	222194335	2	27293											
RNF19B	127544	broad.mit.edu	37	1	33402666	33402666	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7611-01A-11D-2395-08	TCGA-HT-7611-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60b581b-2e7d-4c89-af6f-2de8cf79bcd7	cbdff4de-7729-4d99-b9be-f4807a99630f	g.chr1:33402666C>T	ENST00000373456.7	-	9	1939	c.1940G>A	c.(1939-1941)tGc>tAc	p.C647Y	RNF19B_ENST00000235150.4_Missense_Mutation_p.C646Y|RNF19B_ENST00000356990.5_3'UTR	NM_153341.2	NP_699172.2	Q6ZMZ0	RN19B_HUMAN	ring finger protein 19B	647						integral to membrane	ligase activity|protein binding|zinc ion binding			endometrium(4)|kidney(2)|large_intestine(3)|lung(4)	13		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				GCTGGCCAGGCAGTCTTTCTG	0.547													58	81					0	0	1	0	0	T	33402666	C	T	33402666	3	4	256	1	0	0	0	0	1	0	0	0	13523	710	25	2	262	2	RNF19B	1	33402666	Missense_Mutation	SNP	C	TCGA-HT-7611-01A-11D-2395-08	6346380	33402666	215847955	3	27294											
LCE3C	353144	broad.mit.edu	37	1	152573380	152573380	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7611-01A-11D-2395-08	TCGA-HT-7611-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60b581b-2e7d-4c89-af6f-2de8cf79bcd7	cbdff4de-7729-4d99-b9be-f4807a99630f	g.chr1:152573380G>A	ENST00000333881.3	+	1	243	c.173G>A	c.(172-174)aGg>aAg	p.R58K		NM_178434.2	NP_848521.1	Q5T5A8	LCE3C_HUMAN	late cornified envelope 3C	58					keratinization					lung(1)	1	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)	UCEC - Uterine corpus endometrioid carcinoma (5;0.153)|KIRC - Kidney renal clear cell carcinoma(4;0.0313)|Kidney(5;0.0367)		AGCCACCACAGGCACTTCAGG	0.642													73	9					0	0	1	0	0	A	152573380	G	A	152573380	3	1	256	1	0	0	0	0	1	0	0	0	8710	1000	35	2	175	2	LCE3C	1	152573380	Missense_Mutation	SNP	G	TCGA-HT-7611-01A-11D-2395-08	119170714	152573380	96677241	4	27295											
SNAPIN	23557	broad.mit.edu	37	1	153633756	153633756	+	Silent	SNP	C	C	T			TCGA-HT-7611-01A-11D-2395-08	TCGA-HT-7611-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60b581b-2e7d-4c89-af6f-2de8cf79bcd7	cbdff4de-7729-4d99-b9be-f4807a99630f	g.chr1:153633756C>T	ENST00000368685.5	+	4	480	c.390C>T	c.(388-390)ccC>ccT	p.P130P	SNAPIN_ENST00000478558.1_3'UTR	NM_012437.5	NP_036569.1	O95295	SNAPN_HUMAN	SNAP-associated protein	130					intracellular protein transport|synaptic vesicle exocytosis	BLOC-1 complex|cell junction|perinuclear region of cytoplasm|synaptic vesicle membrane|synaptosome	SNARE binding			lung(3)	3	all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			GAATTTACCCCCCTGGCTCCC	0.507													8	38					0	0	1	0	0	T	153633756	C	T	153633756	2	4	256	1	0	0	0	0	0	0	0	1	14893	610	22	2		2	SNAPIN	1	153633756	Silent	SNP	C	TCGA-HT-7611-01A-11D-2395-08	1060376	153633756	95616865	5	27296											
SPTBN1	6711	broad.mit.edu	37	2	54853094	54853094	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7611-01A-11D-2395-08	TCGA-HT-7611-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60b581b-2e7d-4c89-af6f-2de8cf79bcd7	cbdff4de-7729-4d99-b9be-f4807a99630f	g.chr2:54853094C>T	ENST00000333896.5	+	11	1713	c.1328C>T	c.(1327-1329)gCa>gTa	p.A443V	SPTBN1_ENST00000356805.4_Missense_Mutation_p.A456V	NM_178313.2	NP_842565.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	456					actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			GACCTTCCTGCAGTTGAGGCC	0.522													11	35					0	0	1	0	0	T	54853094	C	T	54853094	3	4	256	1	0	0	0	0	1	0	0	0	15175	710	25	2	1522	2	SPTBN1	2	54853094	Missense_Mutation	SNP	C	TCGA-HT-7611-01A-11D-2395-08		54853094	188346279	6	27297											
TTN	7273	broad.mit.edu	37	2	179417788	179417788	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HT-7611-01A-11D-2395-08	TCGA-HT-7611-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60b581b-2e7d-4c89-af6f-2de8cf79bcd7	cbdff4de-7729-4d99-b9be-f4807a99630f	g.chr2:179417788G>A	ENST00000589042.1	-	335	90063	c.89839C>T	c.(89839-89841)Cga>Tga	p.R29947*	TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000359218.5_Nonsense_Mutation_p.R21007*|TTN_ENST00000460472.2_Nonsense_Mutation_p.R20882*|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Nonsense_Mutation_p.R21074*|TTN_ENST00000591111.1_Nonsense_Mutation_p.R28306*|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.R27379*|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	28306	Fibronectin type-III 118.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACTGTGCCTCGAGAAACATGT	0.423													8	43					0	0	1	0	0	A	179417788	G	A	179417788	4	1	256	1	0	0	0	0	0	1	0	0	16797	1066	37	1	18252	1	TTN	2	179417788	Nonsense_Mutation	SNP	G	TCGA-HT-7611-01A-11D-2395-08	124564694	179417788	63781585	7	27298											
IDH1	3417	broad.mit.edu	37	2	209113113	209113113	+	Missense_Mutation	SNP	G	G	C	rs121913499		TCGA-HT-7611-01A-11D-2395-08	TCGA-HT-7611-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60b581b-2e7d-4c89-af6f-2de8cf79bcd7	cbdff4de-7729-4d99-b9be-f4807a99630f	g.chr2:209113113G>C	ENST00000415913.1	-	4	775	c.394C>G	c.(394-396)Cgt>Ggt	p.R132G	IDH1_ENST00000345146.2_Missense_Mutation_p.R132G|IDH1_ENST00000446179.1_Missense_Mutation_p.R132G	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		TAAGCATGACGACCTATGATG	0.398			Mis		gliobastoma								24	52					0	0	1	0	0	C	209113113	G	C	209113113	3	2	256	1	0	0	0	0	1	0	0	0	7538	1058	37	5	878	5	IDH1	2	209113113	Missense_Mutation	SNP	G	TCGA-HT-7611-01A-11D-2395-08	29695325	209113113	34086260	8	27299											
AGAP1	116987	broad.mit.edu	37	2	236626276	236626276	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HT-7611-01A-11D-2395-08	TCGA-HT-7611-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60b581b-2e7d-4c89-af6f-2de8cf79bcd7	cbdff4de-7729-4d99-b9be-f4807a99630f	g.chr2:236626276G>T	ENST00000304032.8	+	3	878	c.298G>T	c.(298-300)Gag>Tag	p.E100*	AGAP1_ENST00000409538.1_Nonsense_Mutation_p.E365*|AGAP1_ENST00000336665.5_Nonsense_Mutation_p.E100*|AGAP1_ENST00000409457.1_Nonsense_Mutation_p.E100*	NM_001037131.2	NP_001032208.1	Q9UPQ3	AGAP1_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 1		Small GTPase-like.				protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm	ARF GTPase activator activity|GTP binding|zinc ion binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						TGTCCAGGAGGAGTCTCCGGA	0.448													16	55					2.23348e-06	2.44029e-06	1	1	0	T	236626276	G	T	236626276	4	4	256	1	0	0	0	0	0	1	0	0	365	1175	41	5	308	5	AGAP1	2	236626276	Nonsense_Mutation	SNP	G	TCGA-HT-7611-01A-11D-2395-08	27513163	236626276	6573097	9	27300	130	2									
AGAP1	116987	broad.mit.edu	37	2	236626277	236626277	+	Missense_Mutation	SNP	A	A	C			TCGA-HT-7611-01A-11D-2395-08	TCGA-HT-7611-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60b581b-2e7d-4c89-af6f-2de8cf79bcd7	cbdff4de-7729-4d99-b9be-f4807a99630f	g.chr2:236626277A>C	ENST00000304032.8	+	3	879	c.299A>C	c.(298-300)gAg>gCg	p.E100A	AGAP1_ENST00000409538.1_Missense_Mutation_p.E365A|AGAP1_ENST00000336665.5_Missense_Mutation_p.E100A|AGAP1_ENST00000409457.1_Missense_Mutation_p.E100A	NM_001037131.2	NP_001032208.1	Q9UPQ3	AGAP1_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 1		Small GTPase-like.				protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm	ARF GTPase activator activity|GTP binding|zinc ion binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						GTCCAGGAGGAGTCTCCGGAA	0.448													16	55					0	0	1	0	0	C	236626277	A	C	236626277	3	2	256	1	0	0	0	0	1	0	0	0	365	304	11	5	309	5	AGAP1	2	236626277	Missense_Mutation	SNP	A	TCGA-HT-7611-01A-11D-2395-08	1	236626277	6573096	10	27301	130	2									
PLEKHG4B	153478	broad.mit.edu	37	5	161918	161918	+	Silent	SNP	A	A	G			TCGA-HT-7611-01A-11D-2395-08	TCGA-HT-7611-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60b581b-2e7d-4c89-af6f-2de8cf79bcd7	cbdff4de-7729-4d99-b9be-f4807a99630f	g.chr5:161918A>G	ENST00000283426.6	+	10	1490	c.1440A>G	c.(1438-1440)ctA>ctG	p.L480L		NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4B	480					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		AGAAAGGACTACAGCTGGCGA	0.582													11	41					0	0	1	0	0	G	161918	A	G	161918	2	3	256	1	0	0	0	0	0	0	0	1	12120	378	14	3		3	PLEKHG4B	5	161918	Silent	SNP	A	TCGA-HT-7611-01A-11D-2395-08		161918	180753342	11	27302											
HAPLN1	1404	broad.mit.edu	37	5	82937364	82937364	+	Missense_Mutation	SNP	T	T	A			TCGA-HT-7611-01A-11D-2395-08	TCGA-HT-7611-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60b581b-2e7d-4c89-af6f-2de8cf79bcd7	cbdff4de-7729-4d99-b9be-f4807a99630f	g.chr5:82937364T>A	ENST00000274341.4	-	5	1866	c.1016A>T	c.(1015-1017)gAt>gTt	p.D339V		NM_001884.3	NP_001875.1	P10915	HPLN1_HUMAN	hyaluronan and proteoglycan link protein 1	339	Link 2.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|liver(1)|lung(15)|ovary(1)|prostate(1)|skin(1)	34		Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;7.82e-42)|Epithelial(54;5.88e-35)|all cancers(79;1.14e-29)		ATGCTTTTTATCTGGGAAACC	0.517													10	170					0	0	1	0	0	A	82937364	T	A	82937364	3	1	256	1	0	0	0	0	1	0	0	0	6995	1435	50	4	52	4	HAPLN1	5	82937364	Missense_Mutation	SNP	T	TCGA-HT-7611-01A-11D-2395-08	82775446	82937364	97977896	12	27303											
KIAA0319	9856	broad.mit.edu	37	6	24566850	24566850	+	Missense_Mutation	SNP	C	C	A			TCGA-HT-7611-01A-11D-2395-08	TCGA-HT-7611-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60b581b-2e7d-4c89-af6f-2de8cf79bcd7	cbdff4de-7729-4d99-b9be-f4807a99630f	g.chr6:24566850C>A	ENST00000535378.1	-	15	2882	c.2240G>T	c.(2239-2241)cGg>cTg	p.R747L	KIAA0319_ENST00000430948.2_Missense_Mutation_p.R711L|KIAA0319_ENST00000543707.1_Missense_Mutation_p.R756L|KIAA0319_ENST00000378214.3_Missense_Mutation_p.R756L|KIAA0319_ENST00000537886.1_Missense_Mutation_p.R756L	NM_001168374.1	NP_001161846.1	Q5VV43	K0319_HUMAN	KIAA0319	756	PKD 5.				negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding			breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						CTGGCCATCCCGGATCCACAG	0.463													39	58					2.19358e-23	2.44191e-23	1	1	0	A	24566850	C	A	24566850	3	1	256	1	0	0	0	0	1	0	0	0	8210	652	23	5	983	5	KIAA0319	6	24566850	Missense_Mutation	SNP	C	TCGA-HT-7611-01A-11D-2395-08		24566850	146548217	13	27304											
HIST1H4C	8364	broad.mit.edu	37	6	26104327	26104327	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7611-01A-11D-2395-08	TCGA-HT-7611-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60b581b-2e7d-4c89-af6f-2de8cf79bcd7	cbdff4de-7729-4d99-b9be-f4807a99630f	g.chr6:26104327T>C	ENST00000377803.2	+	1	224	c.152T>C	c.(151-153)aTc>aCc	p.I51T		NM_003542.3	NP_003533.1	P62805	H4_HUMAN	histone cluster 1, H4c	51					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1)	7						TCCGGTCTTATCTATGAGGAG	0.542													10	50					0	0	1	0	0	C	26104327	T	C	26104327	3	2	256	1	0	0	0	0	1	0	0	0	7208	1435	50	3	154	3	HIST1H4C	6	26104327	Missense_Mutation	SNP	T	TCGA-HT-7611-01A-11D-2395-08	1537477	26104327	145010740	14	27305											
EPHB6	2051	broad.mit.edu	37	7	142568143	142568143	+	Silent	SNP	C	C	T			TCGA-HT-7611-01A-11D-2395-08	TCGA-HT-7611-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60b581b-2e7d-4c89-af6f-2de8cf79bcd7	cbdff4de-7729-4d99-b9be-f4807a99630f	g.chr7:142568143C>T	ENST00000392957.2	+	18	3571	c.2784C>T	c.(2782-2784)ggC>ggT	p.G928G	EPHB6_ENST00000442129.1_Silent_p.G928G|EPHB6_ENST00000476059.1_3'UTR|EPHB6_ENST00000411471.2_Silent_p.G651G	NM_004445.3	NP_004436.3	O15197	EPHB6_HUMAN	EPH receptor B6	928						extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					TGCAGGCTGGCGGGGACCCAG	0.582													27	106					0	0	1	0	0	T	142568143	C	T	142568143	2	4	256	1	0	0	0	0	0	0	0	1	5206	755	27	1		1	EPHB6	7	142568143	Silent	SNP	C	TCGA-HT-7611-01A-11D-2395-08		142568143	16570520	15	27306											
TRPM6	140803	broad.mit.edu	37	9	77377091	77377091	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7611-01A-11D-2395-08	TCGA-HT-7611-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60b581b-2e7d-4c89-af6f-2de8cf79bcd7	cbdff4de-7729-4d99-b9be-f4807a99630f	g.chr9:77377091A>G	ENST00000451710.3	-	26	4733	c.4496T>C	c.(4495-4497)cTa>cCa	p.L1499P	TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000376864.4_Missense_Mutation_p.L1499P|TRPM6_ENST00000360774.1_Missense_Mutation_p.L1499P|TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000361255.3_Missense_Mutation_p.L1494P|TRPM6_ENST00000449912.2_Missense_Mutation_p.L1494P			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1499					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						GTTATCAGATAGGGAGCTGTC	0.507													17	118					0	0	1	0	0	G	77377091	A	G	77377091	3	3	256	1	0	0	0	0	1	0	0	0	16651	420	15	3	1628	3	TRPM6	9	77377091	Missense_Mutation	SNP	A	TCGA-HT-7611-01A-11D-2395-08		77377091	63836340	16	27307											
OR1Q1	158131	broad.mit.edu	37	9	125377695	125377695	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7611-01A-11D-2395-08	TCGA-HT-7611-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60b581b-2e7d-4c89-af6f-2de8cf79bcd7	cbdff4de-7729-4d99-b9be-f4807a99630f	g.chr9:125377695C>T	ENST00000297913.2	+	1	748	c.679C>T	c.(679-681)Cgg>Tgg	p.R227W	RP11-64P14.7_ENST00000431442.1_RNA	NM_012364.1	NP_036496.1	Q15612	OR1Q1_HUMAN	olfactory receptor, family 1, subfamily Q, member 1	227					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)	17						GGTGGTCCTCCGGATCCCCTC	0.537													33	123					0	0	1	0	0	T	125377695	C	T	125377695	3	4	256	1	0	0	0	0	1	0	0	0	11019	643	23	1	681	1	OR1Q1	9	125377695	Missense_Mutation	SNP	C	TCGA-HT-7611-01A-11D-2395-08	48000604	125377695	15835736	17	27308											
ABO	28	broad.mit.edu	37	9	136131727	136131727	+	RNA	SNP	T	T	C			TCGA-HT-7611-01A-11D-2395-08	TCGA-HT-7611-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60b581b-2e7d-4c89-af6f-2de8cf79bcd7	cbdff4de-7729-4d99-b9be-f4807a99630f	g.chr9:136131727T>C	ENST00000453660.2	-	0	401							P16442	BGAT_HUMAN	ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase)						protein glycosylation	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	fucosylgalactoside 3-alpha-galactosyltransferase activity|glycoprotein-fucosylgalactoside alpha-N-acetylgalactosaminyltransferase activity|metal ion binding			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(2)|prostate(1)|stomach(2)	11				OV - Ovarian serous cystadenocarcinoma(145;5.82e-06)|Epithelial(140;3.45e-05)		AGGAACAGCTTCAGGAAAGCC	0.701													33	41					0	0	1	0	0	C	136131727	T	C	136131727	1	2	256	0	1	0	0	0	0	0	0	0	97	1792	62	3		3	ABO	9	136131727	RNA	SNP	T	TCGA-HT-7611-01A-11D-2395-08	10754032	136131727	5081704	18	27309											
CDC42BPG	55561	broad.mit.edu	37	11	64603009	64603009	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7611-01A-11D-2395-08	TCGA-HT-7611-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60b581b-2e7d-4c89-af6f-2de8cf79bcd7	cbdff4de-7729-4d99-b9be-f4807a99630f	g.chr11:64603009C>T	ENST00000342711.5	-	15	1842	c.1843G>A	c.(1843-1845)Gcc>Acc	p.A615T		NM_017525.2	NP_059995.2	Q6DT37	MRCKG_HUMAN	CDC42 binding protein kinase gamma (DMPK-like)	615					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						TCTCGCAGGGCGGCCACCTCC	0.692													14	124					0	0	1	0	0	T	64603009	C	T	64603009	3	4	256	1	0	0	0	0	1	0	0	0	3096	768	27	1	2904	1	CDC42BPG	11	64603009	Missense_Mutation	SNP	C	TCGA-HT-7611-01A-11D-2395-08		64603009	70403507	19	27310											
FOXM1	2305	broad.mit.edu	37	12	2983282	2983283	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-HT-7611-01A-11D-2395-08	TCGA-HT-7611-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60b581b-2e7d-4c89-af6f-2de8cf79bcd7	cbdff4de-7729-4d99-b9be-f4807a99630f	g.chr12:2983282_2983283delGA	ENST00000342628.2	-	2	475_476	c.362_363delTC	c.(361-363)ctcfs	p.L121fs	FOXM1_ENST00000537018.1_5'UTR|FOXM1_ENST00000361953.3_Frame_Shift_Del_p.L121fs|FOXM1_ENST00000359843.3_Frame_Shift_Del_p.L121fs	NM_202002.2	NP_973731.1	Q08050	FOXM1_HUMAN	forkhead box M1	121					cell cycle|embryo development|liver development|negative regulation of cell aging|negative regulation of stress-activated MAPK cascade|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|positive regulation of cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of cell growth|regulation of cell proliferation|regulation of oxygen and reactive oxygen species metabolic process|regulation of Ras protein signal transduction|regulation of reactive oxygen species metabolic process|regulation of sequence-specific DNA binding transcription factor activity|tissue development|transcription from RNA polymerase II promoter|vasculogenesis	cytoplasm|transcription factor complex	DNA bending activity|DNA binding|double-stranded DNA binding|promoter binding|protein binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|transcription factor binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(3)	24			OV - Ovarian serous cystadenocarcinoma(31;0.000622)			TTTGAGGCCGGAGTCCTGGAGG	0.54													27	120	---	---	---	---						-	2983283	GA	-	2983282	7	5	256	1	0	1	0	1	0	0	0	0	6052	1161	41	0	2078	0	FOXM1	12	2983282	Frame_Shift_Del	DEL	GA	TCGA-HT-7611-01A-11D-2395-08		2983282	130868613	20	27311											
STOML3	161003	broad.mit.edu	37	13	39564828	39564828	+	Nonsense_Mutation	SNP	G	G	A	rs147878470		TCGA-HT-7611-01A-11D-2395-08	TCGA-HT-7611-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60b581b-2e7d-4c89-af6f-2de8cf79bcd7	cbdff4de-7729-4d99-b9be-f4807a99630f	g.chr13:39564828G>A	ENST00000379631.4	-	1	375	c.31C>T	c.(31-33)Caa>Taa	p.Q11*	STOML3_ENST00000423210.1_5'UTR	NM_145286.2	NP_660329.1	Q8TAV4	STML3_HUMAN	stomatin (EPB72)-like 3	11						integral to membrane|plasma membrane				breast(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	11		Lung NSC(96;1.42e-05)|Prostate(109;0.00851)|Breast(139;0.0199)|Lung SC(185;0.0743)		all cancers(112;2.93e-08)|Epithelial(112;3.64e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00107)|BRCA - Breast invasive adenocarcinoma(63;0.00349)|GBM - Glioblastoma multiforme(144;0.0137)		TCTTTATCTTGCTTCTCAGGT	0.388													17	80					0	0	1	0	0	A	39564828	G	A	39564828	4	1	256	1	0	0	0	0	0	1	0	0	15371	1328	46	2	901	2	STOML3	13	39564828	Nonsense_Mutation	SNP	G	TCGA-HT-7611-01A-11D-2395-08		39564828	75605050	21	27312											
DLK1	8788	broad.mit.edu	37	14	101200659	101200659	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7611-01A-11D-2395-08	TCGA-HT-7611-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60b581b-2e7d-4c89-af6f-2de8cf79bcd7	cbdff4de-7729-4d99-b9be-f4807a99630f	g.chr14:101200659G>A	ENST00000341267.4	+	5	820	c.578G>A	c.(577-579)cGc>cAc	p.R193H	DLK1_ENST00000331224.6_Missense_Mutation_p.R193H	NM_003836.5	NP_003827	P80370	DLK1_HUMAN	delta-like 1 homolog (Drosophila)	193	EGF-like 5.				multicellular organismal development	extracellular space|integral to membrane|soluble fraction				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(16)|ovary(2)|prostate(1)|skin(1)	29		Melanoma(154;0.155)				GGCGACTTCCGCTGCCGGTGC	0.662													4	62					0	0	1	0	0	A	101200659	G	A	101200659	3	1	256	1	0	0	0	0	1	0	0	0	4592	1087	38	1	596	1	DLK1	14	101200659	Missense_Mutation	SNP	G	TCGA-HT-7611-01A-11D-2395-08		101200659	6148881	22	27313											
CHRM5	1133	broad.mit.edu	37	15	34356257	34356257	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7611-01A-11D-2395-08	TCGA-HT-7611-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60b581b-2e7d-4c89-af6f-2de8cf79bcd7	cbdff4de-7729-4d99-b9be-f4807a99630f	g.chr15:34356257A>G	ENST00000383263.5	+	3	2009	c.1339A>G	c.(1339-1341)Att>Gtt	p.I447V	CHRM5_ENST00000557872.1_Missense_Mutation_p.I447V	NM_012125.3	NP_036257.1	P08912	ACM5_HUMAN	cholinergic receptor, muscarinic 5	447					cell proliferation|inhibition of adenylate cyclase activity by muscarinic acetylcholine receptor signaling pathway	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	20		all_lung(180;1.76e-08)		all cancers(64;4.82e-17)|GBM - Glioblastoma multiforme(113;2.58e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0262)	Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372)	ACTGAGTGCCATTCTCCTGGC	0.512													35	64					0	0	1	0	0	G	34356257	A	G	34356257	3	3	256	1	0	0	0	0	1	0	0	0	3402	217	8	3	1341	3	CHRM5	15	34356257	Missense_Mutation	SNP	A	TCGA-HT-7611-01A-11D-2395-08		34356257	68175135	23	27314											
CASC5	57082	broad.mit.edu	37	15	40915064	40915064	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7611-01A-11D-2395-08	TCGA-HT-7611-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60b581b-2e7d-4c89-af6f-2de8cf79bcd7	cbdff4de-7729-4d99-b9be-f4807a99630f	g.chr15:40915064G>A	ENST00000346991.5	+	11	3070	c.2680G>A	c.(2680-2682)Gat>Aat	p.D894N	CASC5_ENST00000527044.1_3'UTR|CASC5_ENST00000399668.2_Missense_Mutation_p.D868N			Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5	894	2 X 104 AA approximate repeats.				acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint	acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding			NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		TTCAGAAGACGATAAGAATGA	0.333													10	92					0	0	1	0	0	A	40915064	G	A	40915064	3	1	256	1	0	0	0	0	1	0	0	0	2681	1058	37	1	2718	1	CASC5	15	40915064	Missense_Mutation	SNP	G	TCGA-HT-7611-01A-11D-2395-08	6558807	40915064	61616328	24	27315											
GPRC5B	51704	broad.mit.edu	37	16	19883181	19883181	+	Silent	SNP	G	G	C			TCGA-HT-7611-01A-11D-2395-08	TCGA-HT-7611-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60b581b-2e7d-4c89-af6f-2de8cf79bcd7	cbdff4de-7729-4d99-b9be-f4807a99630f	g.chr16:19883181G>C	ENST00000300571.2	-	2	1178	c.987C>G	c.(985-987)gcC>gcG	p.A329A	GPRC5B_ENST00000535671.1_Silent_p.A329A|GPRC5B_ENST00000537135.1_Silent_p.A355A|GPRC5B_ENST00000569479.1_Silent_p.A329A|GPRC5B_ENST00000569847.1_Silent_p.A329A	NM_016235.1	NP_057319.1	Q9NZH0	GPC5B_HUMAN	G protein-coupled receptor, family C, group 5, member B	329										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						TCTCCATATAGGCCCGCGGCA	0.597													9	83					0	0	1	0	0	C	19883181	G	C	19883181	2	2	256	1	0	0	0	0	0	0	0	1	6766	987	35	4		4	GPRC5B	16	19883181	Silent	SNP	G	TCGA-HT-7611-01A-11D-2395-08		19883181	70471572	25	27316											
GPRC5B	51704	broad.mit.edu	37	16	19883826	19883826	+	Silent	SNP	G	G	T			TCGA-HT-7611-01A-11D-2395-08	TCGA-HT-7611-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60b581b-2e7d-4c89-af6f-2de8cf79bcd7	cbdff4de-7729-4d99-b9be-f4807a99630f	g.chr16:19883826G>T	ENST00000300571.2	-	2	533	c.342C>A	c.(340-342)atC>atA	p.I114I	GPRC5B_ENST00000535671.1_Silent_p.I114I|GPRC5B_ENST00000537135.1_Silent_p.I140I|GPRC5B_ENST00000569479.1_Silent_p.I114I|GPRC5B_ENST00000569847.1_Silent_p.I114I	NM_016235.1	NP_057319.1	Q9NZH0	GPC5B_HUMAN	G protein-coupled receptor, family C, group 5, member B	114										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						CCTCCTGGATGATGAAGGCAA	0.612													5	27					0.000602214	0.000623345	1	1	0	T	19883826	G	T	19883826	2	4	256	1	0	0	0	0	0	0	0	1	6766	1280	45	5		5	GPRC5B	16	19883826	Silent	SNP	G	TCGA-HT-7611-01A-11D-2395-08	645	19883826	70470927	26	27317											
CHD9	80205	broad.mit.edu	37	16	53348818	53348818	+	Missense_Mutation	SNP	T	T	A			TCGA-HT-7611-01A-11D-2395-08	TCGA-HT-7611-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60b581b-2e7d-4c89-af6f-2de8cf79bcd7	cbdff4de-7729-4d99-b9be-f4807a99630f	g.chr16:53348818T>A	ENST00000566029.1	+	36	7607	c.7398T>A	c.(7396-7398)gaT>gaA	p.D2466E	CHD9_ENST00000447540.1_Missense_Mutation_p.D2467E|CHD9_ENST00000564845.1_Missense_Mutation_p.D2466E|CHD9_ENST00000398510.3_Missense_Mutation_p.D2482E			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	2482	Binds A/T-rich DNA.				cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				GAATTCCTGATACAGAAAGTC	0.398													14	82					0	0	1	0	0	A	53348818	T	A	53348818	3	1	256	1	0	0	0	0	1	0	0	0	3354	1403	49	4	7536	4	CHD9	16	53348818	Missense_Mutation	SNP	T	TCGA-HT-7611-01A-11D-2395-08	33464992	53348818	37005935	27	27318											
TP53	7157	broad.mit.edu	37	17	7577081	7577081	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7611-01A-11D-2395-08	TCGA-HT-7611-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60b581b-2e7d-4c89-af6f-2de8cf79bcd7	cbdff4de-7729-4d99-b9be-f4807a99630f	g.chr17:7577081T>C	ENST00000420246.2	-	8	989	c.857A>G	c.(856-858)gAa>gGa	p.E286G	TP53_ENST00000269305.4_Missense_Mutation_p.E286G|TP53_ENST00000359597.4_Missense_Mutation_p.E286G|TP53_ENST00000455263.2_Missense_Mutation_p.E286G|TP53_ENST00000445888.2_Missense_Mutation_p.E286G|TP53_ENST00000413465.2_Intron	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	286	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		E -> A (in LFS; germline mutation and in sporadic cancers; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> L (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|E -> Q (in sporadic cancers; somatic mutation).|E -> V (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.E286G(18)|p.E286V(9)|p.0?(8)|p.?(2)|p.E286fs*17(2)|p.R283fs*16(2)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.T284fs*57(1)|p.T284_G293del10(1)|p.E285_L289delEEENL(1)|p.E286A(1)|p.R283fs*56(1)|p.E285fs*13(1)|p.V272_K292del21(1)|p.E285_N288delEEEN(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)		GAGATTCTCTTCCTCTGTGCG	0.562		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)			48	21					0	0	1	0	0	C	7577081	T	C	7577081	3	2	256	1	0	0	0	0	1	0	0	0	16442	1783	62	3	429	3	TP53	17	7577081	Missense_Mutation	SNP	T	TCGA-HT-7611-01A-11D-2395-08		7577081	73618129	28	27319											
TP53	7157	broad.mit.edu	37	17	7578266	7578266	+	Missense_Mutation	SNP	T	T	A			TCGA-HT-7611-01A-11D-2395-08	TCGA-HT-7611-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60b581b-2e7d-4c89-af6f-2de8cf79bcd7	cbdff4de-7729-4d99-b9be-f4807a99630f	g.chr17:7578266T>A	ENST00000420246.2	-	6	715	c.583A>T	c.(583-585)Atc>Ttc	p.I195F	TP53_ENST00000269305.4_Missense_Mutation_p.I195F|TP53_ENST00000574684.1_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.I195F|TP53_ENST00000455263.2_Missense_Mutation_p.I195F|TP53_ENST00000445888.2_Missense_Mutation_p.I195F|TP53_ENST00000413465.2_Missense_Mutation_p.I195F	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	195	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		I -> F (in sporadic cancers; somatic mutation).|I -> L (in a sporadic cancer; somatic mutation).|I -> N (in sporadic cancers; somatic mutation).|I -> S (in sporadic cancers; somatic mutation).|I -> T (in sporadic cancers; somatic mutation).|I -> V (in a sporadic cancer; somatic mutation).|I -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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.I195F(20)|p.0?(8)|p.?(6)|p.I195fs*14(4)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.I102F(1)|p.I195fs*52(1)|p.L194fs*52(1)|p.I63fs*14(1)|p.I195fs*50(1)|p.I102fs*14(1)|p.P191fs*6(1)|p.I195_G199delIRVEG(1)|p.I195L(1)|p.P98_E105>Q(1)|p.I63F(1)|p.H193_I195delHLI(1)|p.P59_E66>Q(1)|p.H193_I195>AP(1)|p.I195fs*12(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)		TCCACTCGGATAAGATGCTGA	0.557		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)			4	44					0	0	1	0	0	A	7578266	T	A	7578266	3	1	256	1	0	0	0	0	1	0	0	0	16442	1406	49	4	711	4	TP53	17	7578266	Missense_Mutation	SNP	T	TCGA-HT-7611-01A-11D-2395-08	1185	7578266	73616944	29	27320											
IFI35	3430	broad.mit.edu	37	17	41166236	41166236	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7611-01A-11D-2395-08	TCGA-HT-7611-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60b581b-2e7d-4c89-af6f-2de8cf79bcd7	cbdff4de-7729-4d99-b9be-f4807a99630f	g.chr17:41166236G>A	ENST00000415816.2	+	7	1004	c.781G>A	c.(781-783)Ggg>Agg	p.G261R	IFI35_ENST00000438323.2_Missense_Mutation_p.G263R	NM_005533.4	NP_005524.2	P80217	IN35_HUMAN	interferon-induced protein 35	261					response to virus|type I interferon-mediated signaling pathway	nucleus	protein binding			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)	8		Breast(137;0.00499)		BRCA - Breast invasive adenocarcinoma(366;0.157)		GCCCACCCGCGGGGGCGGGGA	0.622													39	31					0	0	1	0	0	A	41166236	G	A	41166236	3	1	256	1	0	0	0	0	1	0	0	0	7560	1116	39	1	813	1	IFI35	17	41166236	Missense_Mutation	SNP	G	TCGA-HT-7611-01A-11D-2395-08	33587970	41166236	40028974	30	27321											
CYP4F8	11283	broad.mit.edu	37	19	15734031	15734031	+	RNA	SNP	G	G	A			TCGA-HT-7611-01A-11D-2395-08	TCGA-HT-7611-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60b581b-2e7d-4c89-af6f-2de8cf79bcd7	cbdff4de-7729-4d99-b9be-f4807a99630f	g.chr19:15734031G>A	ENST00000441682.2	+	0	825							P98187	CP4F8_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 8						prostaglandin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1)	26						TGTGGACGGCGCTTCCACAGG	0.562													46	47					0	0	1	0	0	A	15734031	G	A	15734031	1	1	256	0	1	0	0	0	0	0	0	0	4214	1087	38	1		1	CYP4F8	19	15734031	RNA	SNP	G	TCGA-HT-7611-01A-11D-2395-08		15734031	43394952	31	27322											
FCGBP	8857	broad.mit.edu	37	19	40366226	40366226	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7611-01A-11D-2395-08	TCGA-HT-7611-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60b581b-2e7d-4c89-af6f-2de8cf79bcd7	cbdff4de-7729-4d99-b9be-f4807a99630f	g.chr19:40366226C>T	ENST00000221347.6	-	30	14015	c.14008G>A	c.(14008-14010)Gtg>Atg	p.V4670M		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	4670	VWFD 11.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GCGGAGATCACGCCGCAGGCG	0.726													19	70					0	0	1	0	0	T	40366226	C	T	40366226	3	4	256	1	0	0	0	0	1	0	0	0	5811	536	19	1	2237	1	FCGBP	19	40366226	Missense_Mutation	SNP	C	TCGA-HT-7611-01A-11D-2395-08	24632195	40366226	18762757	32	27323											
BCOR	54880	broad.mit.edu	37	X	39932880	39932880	+	Silent	SNP	G	G	T			TCGA-HT-7611-01A-11D-2395-08	TCGA-HT-7611-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60b581b-2e7d-4c89-af6f-2de8cf79bcd7	cbdff4de-7729-4d99-b9be-f4807a99630f	g.chrX:39932880G>T	ENST00000342274.4	-	4	2081	c.1719C>A	c.(1717-1719)gcC>gcA	p.A573A	BCOR_ENST00000378444.4_Silent_p.A573A|BCOR_ENST00000397354.3_Silent_p.A573A|BCOR_ENST00000378455.4_Silent_p.A573A	NM_001123383.1	NP_001116855.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	573					heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						TGGCATTGGGGGCGGGTGATG	0.617			"F, N, S, T"	RARA	"retinoblastoma, AML, APL(translocation)"		oculo-facio-cardio-dental genetic						4	46					0.00024832	0.000261623	1	1	0	T	39932880	G	T	39932880	2	4	256	1	0	0	0	0	0	0	0	1	1384	1219	43	5		5	BCOR	23	39932880	Silent	SNP	G	TCGA-HT-7611-01A-11D-2395-08		39932880	115337680	33	27324											
ATRX	546	broad.mit.edu	37	X	76938601	76938605	+	Frame_Shift_Del	DEL	AATTT	AATTT	-			TCGA-HT-7611-01A-11D-2395-08	TCGA-HT-7611-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60b581b-2e7d-4c89-af6f-2de8cf79bcd7	cbdff4de-7729-4d99-b9be-f4807a99630f	g.chrX:76938601_76938605delAATTT	ENST00000373344.5	-	9	2357_2361	c.2143_2147delAAATT	c.(2143-2148)aaattgfs	p.KL715fs	ATRX_ENST00000395603.3_Frame_Shift_Del_p.KL677fs|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	715					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)	AGATTTTGGCAATTTATTAGGCTTA	0.361			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						25	118	---	---	---	---						-	76938605	AATTT	-	76938601	7	5	256	1	0	1	0	1	0	0	0	0	1206	131	5	0	5439	0	ATRX	23	76938601	Frame_Shift_Del	DEL	AATTT	TCGA-HT-7611-01A-11D-2395-08	37005721	76938601	78331959	34	27325											
PAFAH2	5051	broad.mit.edu	37	1	26311003	26311003	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr1:26311003A>G	ENST00000374282.3	-	5	537	c.358T>C	c.(358-360)Ttc>Ctc	p.F120L	PAFAH2_ENST00000374284.1_Missense_Mutation_p.F120L|PAFAH2_ENST00000493892.1_5'UTR	NM_000437.3	NP_000428.2	Q99487	PAFA2_HUMAN	platelet-activating factor acetylhydrolase 2, 40kDa	120					lipid catabolic process	cytoplasm	1-alkyl-2-acetylglycerophosphocholine esterase activity|phospholipid binding			NS(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(2)|urinary_tract(1)	9		Colorectal(325;3.47e-05)|Lung NSC(340;6.23e-05)|all_lung(284;9.48e-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;3.84e-25)|Colorectal(126;3.57e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00155)|GBM - Glioblastoma multiforme(114;0.00717)|READ - Rectum adenocarcinoma(331;0.0649)		TCCATGCAGAAGGCTGAATAC	0.522													17	5					0	0	1	0	0	G	26311003	A	G	26311003	3	3	257	1	0	0	0	0	1	0	0	0	11434	72	3	3	848	3	PAFAH2	1	26311003	Missense_Mutation	SNP	A	TCGA-HT-7616-01A-11D-2253-08		26311003	222939618	1	27326											
CACHD1	57685	broad.mit.edu	37	1	65141193	65141193	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr1:65141193T>C	ENST00000371073.2	+	20	2837	c.2837T>C	c.(2836-2838)cTt>cCt	p.L946P	CACHD1_ENST00000290039.5_Missense_Mutation_p.L895P|CACHD1_ENST00000495994.1_3'UTR			Q5VU97	CAHD1_HUMAN	cache domain containing 1	946	Cys-rich.				calcium ion transport	integral to membrane				breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						TGCGACTCTCTTGCCTTCTGT	0.478											OREG0013544	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	133					0	0	1	0	0	C	65141193	T	C	65141193	3	2	257	1	0	0	0	0	1	0	0	0	2555	1609	56	3	2762	3	CACHD1	1	65141193	Missense_Mutation	SNP	T	TCGA-HT-7616-01A-11D-2253-08	38830190	65141193	184109428	2	27327											
FUBP1	8880	broad.mit.edu	37	1	78432569	78432570	+	Splice_Site	INS	-	-	G			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr1:78432569_78432570insG	ENST00000370767.1	-	6	500_501	c.413_414insC	c.(412-414)cct>ccCt	p.P138fs	FUBP1_ENST00000436586.2_Splice_Site_p.P159fs|FUBP1_ENST00000370768.2_Splice_Site_p.P138fs			Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1	138	KH 1.				transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						TAACATTACCAGGAGCTATCTG	0.312			"F, N"		oligodendroglioma								30	42	---	---	---	---						G	78432570	-	G	78432569	8	5	257	1	0	1	1	0	0	0	1	0	6127	202	7	0	1580	0	FUBP1	1	78432569	Splice_Site	INS	-	TCGA-HT-7616-01A-11D-2253-08	13291376	78432569	170818052	3	27328											
ELTD1	64123	broad.mit.edu	37	1	79470843	79470843	+	Silent	SNP	G	G	C			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr1:79470843G>C	ENST00000370742.3	-	2	147	c.84C>G	c.(82-84)ctC>ctG	p.L28L		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	28	EGF-like 1.				neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		TTGCATTTGGGAGACAAGGTG	0.343													49	17					0	0	1	0	0	C	79470843	G	C	79470843	2	2	257	1	0	0	0	0	0	0	0	1	5112	1161	41	5		5	ELTD1	1	79470843	Silent	SNP	G	TCGA-HT-7616-01A-11D-2253-08	1038274	79470843	169779778	4	27329											
SLC44A3	126969	broad.mit.edu	37	1	95307657	95307657	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr1:95307657G>A	ENST00000271227.6	+	8	964	c.862G>A	c.(862-864)Gct>Act	p.A288T	SLC44A3_ENST00000527077.1_Missense_Mutation_p.A220T|SLC44A3_ENST00000530397.1_3'UTR|SLC44A3_ENST00000467909.1_Missense_Mutation_p.A240T|SLC44A3_ENST00000446120.2_Missense_Mutation_p.A252T|SLC44A3_ENST00000529450.1_Missense_Mutation_p.A256T|SLC44A3_ENST00000532427.1_Missense_Mutation_p.A208T|RP11-465K1.2_ENST00000422162.1_RNA	NM_001114106.2|NM_001258340.1|NM_001258341.1	NP_001107578.1|NP_001245269.1|NP_001245270.1	Q8N4M1	CTL3_HUMAN	solute carrier family 44, member 3	288						integral to membrane|plasma membrane	choline transmembrane transporter activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|prostate(2)|stomach(1)|urinary_tract(1)	23		all_lung(203;0.000712)|Lung NSC(277;0.00316)		all cancers(265;0.039)|Epithelial(280;0.124)	Choline(DB00122)	GCTGGGGTTTGCTATCGTATC	0.448													12	68					0	0	1	0	0	A	95307657	G	A	95307657	3	1	257	1	0	0	0	0	1	0	0	0	14692	1319	46	2	892	2	SLC44A3	1	95307657	Missense_Mutation	SNP	G	TCGA-HT-7616-01A-11D-2253-08	15836814	95307657	153942964	5	27330											
NTRK1	4914	broad.mit.edu	37	1	156845863	156845863	+	Splice_Site	SNP	C	C	T			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr1:156845863C>T	ENST00000358660.3	+	12	1525	c.1484C>T	c.(1483-1485)tCc>tTc	p.S495F	NTRK1_ENST00000368196.3_Intron|NTRK1_ENST00000524377.1_Intron|NTRK1_ENST00000392302.2_Intron			P04629	NTRK1_HUMAN	neurotrophic tyrosine kinase, receptor, type 1	501					activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Imatinib(DB00619)	ACCCTGCAAGCCCCCTCAGGT	0.637			T	"TPM3, TPR, TFG"	papillary thyroid					TSP Lung(10;0.080)			39	108					0	0	1	0	0	T	156845863	C	T	156845863	5	4	257	1	0	0	0	0	0	0	1	0	10754	754	26	2		2	NTRK1	1	156845863	Splice_Site	SNP	C	TCGA-HT-7616-01A-11D-2253-08	61538206	156845863	92404758	6	27331											
FCRL5	83416	broad.mit.edu	37	1	157516858	157516858	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr1:157516858T>C	ENST00000361835.3	-	3	339	c.182A>G	c.(181-183)tAc>tGc	p.Y61C	FCRL5_ENST00000368191.3_Intron|FCRL5_ENST00000368188.2_Missense_Mutation_p.Y61C|FCRL5_ENST00000368190.3_Missense_Mutation_p.Y61C|FCRL5_ENST00000356953.4_Missense_Mutation_p.Y61C|FCRL5_ENST00000368189.3_Missense_Mutation_p.Y61C	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	61	Ig-like C2-type 1.					integral to membrane|plasma membrane	receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				TTTCCCAAGGTACCGATGGTA	0.502													29	68					0	0	1	0	0	C	157516858	T	C	157516858	3	2	257	1	0	0	0	0	1	0	0	0	5831	1638	57	3	2811	3	FCRL5	1	157516858	Missense_Mutation	SNP	T	TCGA-HT-7616-01A-11D-2253-08	670995	157516858	91733763	7	27332											
SOAT1	6646	broad.mit.edu	37	1	179316745	179316745	+	Missense_Mutation	SNP	T	T	G			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr1:179316745T>G	ENST00000367619.3	+	12	1271	c.1128T>G	c.(1126-1128)atT>atG	p.I376M	SOAT1_ENST00000535686.1_Missense_Mutation_p.I112M|SOAT1_ENST00000540564.1_Missense_Mutation_p.I318M|SOAT1_ENST00000539888.1_Missense_Mutation_p.I311M	NM_003101.5	NP_003092.4	P35610	SOAT1_HUMAN	sterol O-acyltransferase 1	376					cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|cholesterol storage|macrophage derived foam cell differentiation|positive regulation of amyloid precursor protein biosynthetic process|very-low-density lipoprotein particle assembly	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol binding|cholesterol O-acyltransferase activity|fatty-acyl-CoA binding			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|stomach(1)	20					Ezetimibe(DB00973)|Hesperetin(DB01094)	GTGTGCTGATTCTCTTCCTTA	0.348													6	65					0	0	1	0	0	G	179316745	T	G	179316745	3	3	257	1	0	0	0	0	1	0	0	0	14964	1771	62	5	1170	5	SOAT1	1	179316745	Missense_Mutation	SNP	T	TCGA-HT-7616-01A-11D-2253-08	21799887	179316745	69933876	8	27333											
RYR2	6262	broad.mit.edu	37	1	237666709	237666709	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr1:237666709G>T	ENST00000366574.2	+	22	2834	c.2517G>T	c.(2515-2517)gaG>gaT	p.E839D	RYR2_ENST00000542537.1_Missense_Mutation_p.E823D|RYR2_ENST00000360064.6_Missense_Mutation_p.E837D	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	839					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			ACAGCCGAGAGTACAAGCAAG	0.507													16	69					2.35188e-11	2.64134e-11	1	1	0	T	237666709	G	T	237666709	3	4	257	1	0	0	0	0	1	0	0	0	13821	1020	36	4	2603	4	RYR2	1	237666709	Missense_Mutation	SNP	G	TCGA-HT-7616-01A-11D-2253-08	58349964	237666709	11583912	9	27334											
TRIM54	57159	broad.mit.edu	37	2	27505759	27505759	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr2:27505759G>A	ENST00000296098.4	+	1	430	c.160G>A	c.(160-162)Gtc>Atc	p.V54I	TRIM54_ENST00000380075.2_Missense_Mutation_p.V54I	NM_032546.3	NP_115935.3	Q9BYV2	TRI54_HUMAN	tripartite motif containing 54	54					cell differentiation|microtubule-based process|multicellular organismal development|negative regulation of microtubule depolymerization	microtubule|sarcomere	signal transducer activity|zinc ion binding			cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGCCAACGACGTCTTCCAGGT	0.592													112	191					0	0	1	0	0	A	27505759	G	A	27505759	3	1	257	1	0	0	0	0	1	0	0	0	16589	1145	40	1	162	1	TRIM54	2	27505759	Missense_Mutation	SNP	G	TCGA-HT-7616-01A-11D-2253-08		27505759	215693614	10	27335											
DCAF17	80067	broad.mit.edu	37	2	172337525	172337525	+	Silent	SNP	A	A	C			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr2:172337525A>C	ENST00000375255.3	+	14	1791	c.1464A>C	c.(1462-1464)ctA>ctC	p.L488L	DCAF17_ENST00000539783.1_Silent_p.L421L|DCAF17_ENST00000468592.1_3'UTR	NM_025000.3	NP_079276.2	Q5H9S7	DCA17_HUMAN	DDB1 and CUL4 associated factor 17	488						CUL4 RING ubiquitin ligase complex|integral to membrane|nucleolus				endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)	17						ACTTGGTGCTACACATAGAGC	0.398													6	142					0	0	1	0	0	C	172337525	A	C	172337525	2	2	257	1	0	0	0	0	0	0	0	1	4293	378	14	5		5	DCAF17	2	172337525	Silent	SNP	A	TCGA-HT-7616-01A-11D-2253-08	144831766	172337525	70861848	11	27336											
TTN	7273	broad.mit.edu	37	2	179455636	179455636	+	Silent	SNP	C	C	T			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr2:179455636C>T	ENST00000589042.1	-	304	61040	c.60816G>A	c.(60814-60816)ccG>ccA	p.P20272P	TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Silent_p.P11332P|TTN_ENST00000460472.2_Silent_p.P11207P|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Silent_p.P17704P|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Silent_p.P11399P|TTN_ENST00000591111.1_Silent_p.P18631P|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589907.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	18631	Ig-like 111.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAGGAGGAGACGGAGGACTAA	0.458													46	103					0	0	1	0	0	T	179455636	C	T	179455636	2	4	257	1	0	0	0	0	0	0	0	1	16797	523	19	1		1	TTN	2	179455636	Silent	SNP	C	TCGA-HT-7616-01A-11D-2253-08	7118111	179455636	63743737	12	27337											
TTN	7273	broad.mit.edu	37	2	179591914	179591914	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr2:179591914C>G	ENST00000589042.1	-	69	20402	c.20178G>C	c.(20176-20178)caG>caC	p.Q6726H	TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.Q5482H|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.Q6409H	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	6409							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GATTGTTCATCTGTATGACGG	0.448													21	60					0	0	1	0	0	G	179591914	C	G	179591914	3	3	257	1	0	0	0	0	1	0	0	0	16797	912	32	4	84527	4	TTN	2	179591914	Missense_Mutation	SNP	C	TCGA-HT-7616-01A-11D-2253-08	136278	179591914	63607459	13	27338											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	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	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								48	69					0	0	1	0	0	T	209113112	C	T	209113112	3	4	257	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HT-7616-01A-11D-2253-08	29521198	209113112	34086261	14	27339											
UCN2	90226	broad.mit.edu	37	3	48600467	48600467	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr3:48600467G>A	ENST00000273610.3	-	2	173	c.91C>T	c.(91-93)Cgc>Tgc	p.R31C		NM_033199.3	NP_149976.1	Q96RP3	UCN2_HUMAN	urocortin 2	31					cAMP biosynthetic process|digestion|response to stress		hormone activity|hormone binding								BRCA - Breast invasive adenocarcinoma(193;0.000288)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		TTCTGAGGGCGGAGCTGGAAG	0.632													3	19					0	0	1	0	0	A	48600467	G	A	48600467	3	1	257	1	0	0	0	0	1	0	0	0	16988	1116	39	1	251	1	UCN2	3	48600467	Missense_Mutation	SNP	G	TCGA-HT-7616-01A-11D-2253-08		48600467	149421963	15	27340											
NT5DC2	64943	broad.mit.edu	37	3	52561696	52561696	+	Missense_Mutation	SNP	C	C	A			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr3:52561696C>A	ENST00000307076.4	-	9	1263	c.863G>T	c.(862-864)cGc>cTc	p.R288L	NT5DC2_ENST00000422318.2_Missense_Mutation_p.R325L|NT5DC2_ENST00000307092.4_Missense_Mutation_p.R229L|NT5DC2_ENST00000459839.1_Missense_Mutation_p.R300L	NM_022908.2	NP_075059.1	Q9H857	NT5D2_HUMAN	5'-nucleotidase domain containing 2	288							hydrolase activity|metal ion binding			endometrium(1)|lung(3)|prostate(1)|stomach(1)	6				BRCA - Breast invasive adenocarcinoma(193;1.7e-05)|Kidney(197;0.00177)|KIRC - Kidney renal clear cell carcinoma(197;0.002)|OV - Ovarian serous cystadenocarcinoma(275;0.0476)		GAAGAGCTGGCGCCAATCGGG	0.627													3	80					0.150653	0.150653	1	1	0	A	52561696	C	A	52561696	3	1	257	1	0	0	0	0	1	0	0	0	10739	768	27	5	723	5	NT5DC2	3	52561696	Missense_Mutation	SNP	C	TCGA-HT-7616-01A-11D-2253-08	3961229	52561696	145460734	16	27341											
CEP97	79598	broad.mit.edu	37	3	101446274	101446274	+	Silent	SNP	G	G	A			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr3:101446274G>A	ENST00000341893.3	+	3	986	c.234G>A	c.(232-234)aaG>aaA	p.K78K	CEP97_ENST00000327230.4_Silent_p.K78K|CEP97_ENST00000494050.1_Silent_p.K78K			Q8IW35	CEP97_HUMAN	centrosomal protein 97kDa	78						centrosome|nucleus	protein binding			cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29						GTGTGGCCAAGCTGACGTTGC	0.373													5	160					0	0	1	0	0	A	101446274	G	A	101446274	2	1	257	1	0	0	0	0	0	0	0	1	3285	962	34	2		2	CEP97	3	101446274	Silent	SNP	G	TCGA-HT-7616-01A-11D-2253-08	48884578	101446274	96576156	17	27342											
CMYA5	202333	broad.mit.edu	37	5	79026993	79026993	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr5:79026993C>T	ENST00000446378.2	+	2	2436	c.2405C>T	c.(2404-2406)gCa>gTa	p.A802V		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	802						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		TCCAAATATGCAGCCCCACTC	0.443													32	71					0	0	1	0	0	T	79026993	C	T	79026993	3	4	257	1	0	0	0	0	1	0	0	0	3613	710	25	2	2411	2	CMYA5	5	79026993	Missense_Mutation	SNP	C	TCGA-HT-7616-01A-11D-2253-08		79026993	101888267	18	27343											
PCDHGA2	56113	broad.mit.edu	37	5	140718979	140718979	+	Silent	SNP	G	G	T			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr5:140718979G>T	ENST00000394576.2	+	1	441	c.441G>T	c.(439-441)acG>acT	p.T147T	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1														breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAACCACTACGCCAGGATTCC	0.458													5	112					0.0293803	0.0297884	1	1	0	T	140718979	G	T	140718979	2	4	257	1	0	0	0	0	0	0	0	1	11601	1074	38	5		5	PCDHGA2	5	140718979	Silent	SNP	G	TCGA-HT-7616-01A-11D-2253-08	61691986	140718979	40196281	19	27344											
F13A1	2162	broad.mit.edu	37	6	6266847	6266847	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr6:6266847C>T	ENST00000264870.3	-	4	780	c.515G>A	c.(514-516)cGa>cAa	p.R172Q		NM_000129.3	NP_000120.2	P00488	F13A_HUMAN	coagulation factor XIII, A1 polypeptide	172					peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	p.R172Q(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	TCGACTGGTTCGAAGTACGCC	0.458													64	118					0	0	1	0	0	T	6266847	C	T	6266847	3	4	257	1	0	0	0	0	1	0	0	0	5368	884	31	1	1731	1	F13A1	6	6266847	Missense_Mutation	SNP	C	TCGA-HT-7616-01A-11D-2253-08		6266847	164848220	20	27345											
STX11	8676	broad.mit.edu	37	6	144507945	144507945	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr6:144507945G>A	ENST00000367568.4	+	2	364	c.181G>A	c.(181-183)Gac>Aac	p.D61N		NM_003764.3	NP_003755.2	O75558	STX11_HUMAN	syntaxin 11	61				D -> N (in Ref. 1; AAD02107).	cellular membrane fusion|intracellular protein transport|vesicle-mediated transport	Golgi apparatus|membrane	SNAP receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	12				OV - Ovarian serous cystadenocarcinoma(155;2.17e-06)|GBM - Glioblastoma multiforme(68;0.0492)		GCTGGTGGCCGACGTGAAGCG	0.612									Familial Hemophagocytic Lymphohistiocytosis				9	21					0	0	1	0	0	A	144507945	G	A	144507945	3	1	257	1	0	0	0	0	1	0	0	0	15393	1058	37	1	183	1	STX11	6	144507945	Missense_Mutation	SNP	G	TCGA-HT-7616-01A-11D-2253-08	138241098	144507945	26607122	21	27346											
SHPRH	257218	broad.mit.edu	37	6	146271526	146271526	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr6:146271526G>A	ENST00000367503.3	-	4	1254	c.856C>T	c.(856-858)Caa>Taa	p.Q286*	SHPRH_ENST00000367505.2_Nonsense_Mutation_p.Q286*|SHPRH_ENST00000438092.2_Nonsense_Mutation_p.Q286*|SHPRH_ENST00000275233.7_Nonsense_Mutation_p.Q286*	NM_001042683.2	NP_001036148.2	Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase	286					DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		TGCGTTTCTTGCTGATGTGTT	0.468													62	147					0	0	1	0	0	A	146271526	G	A	146271526	4	1	257	1	0	0	0	0	0	1	0	0	14346	1328	46	2	4347	2	SHPRH	6	146271526	Nonsense_Mutation	SNP	G	TCGA-HT-7616-01A-11D-2253-08	1763581	146271526	24843541	22	27347											
TULP4	56995	broad.mit.edu	37	6	158902198	158902198	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr6:158902198G>A	ENST00000367097.3	+	8	2720	c.1363G>A	c.(1363-1365)Ggc>Agc	p.G455S	TULP4_ENST00000367094.2_Missense_Mutation_p.G455S	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN	tubby like protein 4	455					intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity			endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		GGAGGTGGGCGGCCCGTGCTA	0.617													3	65					0	0	1	0	0	A	158902198	G	A	158902198	3	1	257	1	0	0	0	0	1	0	0	0	16838	1116	39	1	1393	1	TULP4	6	158902198	Missense_Mutation	SNP	G	TCGA-HT-7616-01A-11D-2253-08	12630672	158902198	12212869	23	27348											
FNDC1	84624	broad.mit.edu	37	6	159618496	159618496	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr6:159618496T>C	ENST00000297267.9	+	2	343	c.143T>C	c.(142-144)cTg>cCg	p.L48P	FNDC1_ENST00000340366.6_Missense_Mutation_p.L48P	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	48	Fibronectin type-III 1.					extracellular region				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		CATGTGAAACTGCTGTCCACT	0.453													60	144					0	0	1	0	0	C	159618496	T	C	159618496	3	2	257	1	0	0	0	0	1	0	0	0	6001	1580	55	3	149	3	FNDC1	6	159618496	Missense_Mutation	SNP	T	TCGA-HT-7616-01A-11D-2253-08	716298	159618496	11496571	24	27349											
ABCA13	154664	broad.mit.edu	37	7	48556330	48556330	+	Silent	SNP	T	T	C			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr7:48556330T>C	ENST00000435803.1	+	52	13674	c.13650T>C	c.(13648-13650)acT>acC	p.T4550T	ABCA13_ENST00000544596.1_Silent_p.T280T	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	4550					transport	integral to membrane	ATP binding|ATPase activity	p.T4495T(1)|p.T4550T(1)		breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						GATATGCAACTCTTCCATGGA	0.378													5	228					0	0	1	0	0	C	48556330	T	C	48556330	2	2	257	1	0	0	0	0	0	0	0	1	31	1538	54	3		3	ABCA13	7	48556330	Silent	SNP	T	TCGA-HT-7616-01A-11D-2253-08		48556330	110582333	25	27350											
SLC26A5	375611	broad.mit.edu	37	7	103018895	103018895	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr7:103018895C>G	ENST00000306312.3	-	17	2044	c.1783G>C	c.(1783-1785)Gca>Cca	p.A595P	SLC26A5_ENST00000393735.2_Intron|SLC26A5_ENST00000432958.2_Missense_Mutation_p.A563P|SLC26A5_ENST00000339444.6_Missense_Mutation_p.A595P|SLC26A5_ENST00000393727.1_Missense_Mutation_p.A595P|SLC26A5_ENST00000356767.4_Intron|SLC26A5_ENST00000354356.4_Missense_Mutation_p.A28P|SLC26A5_ENST00000393723.1_Missense_Mutation_p.A563P|SLC26A5_ENST00000393730.1_Missense_Mutation_p.A563P|SLC26A5_ENST00000393729.1_Missense_Mutation_p.A558P	NM_198999.2	NP_945350.1	P58743	S26A5_HUMAN	solute carrier family 26 (anion exchanger), member 5	595	STAS.				regulation of cell shape|sensory perception of sound	integral to membrane	secondary active sulfate transmembrane transporter activity			endometrium(5)|kidney(2)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)	43						CCACTCACTGCTTTGACAACA	0.448													13	115					0	0	1	0	0	G	103018895	C	G	103018895	3	3	257	1	0	0	0	0	1	0	0	0	14575	797	28	4	508	4	SLC26A5	7	103018895	Missense_Mutation	SNP	C	TCGA-HT-7616-01A-11D-2253-08	54462565	103018895	56119768	26	27351			1	26		2	2	17	N	G_C	3.04937e-05
SLC26A5	375611	broad.mit.edu	37	7	103018911	103018911	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr7:103018911G>T	ENST00000306312.3	-	17	2028	c.1767C>A	c.(1765-1767)aaC>aaA	p.N589K	SLC26A5_ENST00000393735.2_Intron|SLC26A5_ENST00000432958.2_Missense_Mutation_p.N557K|SLC26A5_ENST00000339444.6_Missense_Mutation_p.N589K|SLC26A5_ENST00000393727.1_Missense_Mutation_p.N589K|SLC26A5_ENST00000356767.4_Intron|SLC26A5_ENST00000354356.4_Missense_Mutation_p.N22K|SLC26A5_ENST00000393723.1_Missense_Mutation_p.N557K|SLC26A5_ENST00000393730.1_Missense_Mutation_p.N557K|SLC26A5_ENST00000393729.1_Missense_Mutation_p.N552K	NM_198999.2	NP_945350.1	P58743	S26A5_HUMAN	solute carrier family 26 (anion exchanger), member 5	589	STAS.				regulation of cell shape|sensory perception of sound	integral to membrane	secondary active sulfate transmembrane transporter activity			endometrium(5)|kidney(2)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)	43						CAACAGTTGCGTTGGCCATAT	0.448													18	150					1.64113e-05	1.76181e-05	1	1	0	T	103018911	G	T	103018911	3	4	257	1	0	0	0	0	1	0	0	0	14575	1136	40	5	524	5	SLC26A5	7	103018911	Missense_Mutation	SNP	G	TCGA-HT-7616-01A-11D-2253-08	16	103018911	56119752	27	27352			1	26		2	2	17	N	G_C	3.04937e-05
COG5	10466	broad.mit.edu	37	7	106851543	106851543	+	Splice_Site	SNP	C	C	T			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr7:106851543C>T	ENST00000393603.2	-	20	2660		c.e20+1		COG5_ENST00000347053.3_Splice_Site|COG5_ENST00000297135.3_Splice_Site	NM_001161520.1	NP_001154992.1	Q9UP83	COG5_HUMAN	component of oligomeric golgi complex 5						intra-Golgi vesicle-mediated transport|protein transport	cytosol|Golgi membrane|Golgi transport complex|nucleus	protein binding			breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|skin(4)|stomach(1)	40						TTATTTATTACCTGGAAAGGA	0.468													28	67					0	0	1	0	0	T	106851543	C	T	106851543	5	4	257	1	0	0	0	0	0	0	1	0	3684	521	18	2	209	2	COG5	7	106851543	Splice_Site	SNP	C	TCGA-HT-7616-01A-11D-2253-08	3832632	106851543	52287120	28	27353											
GPR85	54329	broad.mit.edu	37	7	112723879	112723879	+	Missense_Mutation	SNP	G	G	C			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr7:112723879G>C	ENST00000297146.3	-	3	1501	c.898C>G	c.(898-900)Ccc>Gcc	p.P300A	GPR85_ENST00000501255.2_Missense_Mutation_p.P300A|GPR85_ENST00000449591.1_Missense_Mutation_p.P300A|GPR85_ENST00000424100.1_Missense_Mutation_p.P300A	NM_001146266.1	NP_001139738.1	P60893	GPR85_HUMAN	G protein-coupled receptor 85							integral to membrane|plasma membrane	G-protein coupled receptor activity	p.P300T(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	17						ACCAGGTAGGGGCCCCACAAG	0.458													3	88					0	0	1	0	0	C	112723879	G	C	112723879	3	2	257	1	0	0	0	0	1	0	0	0	6755	1232	43	5	218	5	GPR85	7	112723879	Missense_Mutation	SNP	G	TCGA-HT-7616-01A-11D-2253-08	5872336	112723879	46414784	29	27354											
KCND2	3751	broad.mit.edu	37	7	119914854	119914854	+	Silent	SNP	G	G	A			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr7:119914854G>A	ENST00000331113.4	+	1	1133	c.168G>A	c.(166-168)caG>caA	p.Q56Q		NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	56					regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)					AGACGTGGCAGGACACCCTGG	0.567													10	232					0	0	1	0	0	A	119914854	G	A	119914854	2	1	257	1	0	0	0	0	0	0	0	1	8063	991	35	2		2	KCND2	7	119914854	Silent	SNP	G	TCGA-HT-7616-01A-11D-2253-08	7190975	119914854	39223809	30	27355											
LOXL2	4017	broad.mit.edu	37	8	23167365	23167365	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr8:23167365G>A	ENST00000389131.3	-	10	2065	c.1696C>T	c.(1696-1698)Cgg>Tgg	p.R566W		NM_002318.2	NP_002309.1	Q9Y4K0	LOXL2_HUMAN	lysyl oxidase-like 2	566	Lysyl-oxidase like.				aging|cell adhesion|protein modification process	extracellular space|membrane	copper ion binding|electron carrier activity|oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor|scavenger receptor activity			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(55;0.0453)|Breast(100;0.143)		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)		AACATGGGCCGGTCCTCCAGG	0.657													3	68					0	0	1	0	0	A	23167365	G	A	23167365	3	1	257	1	0	0	0	0	1	0	0	0	8945	1115	39	1	648	1	LOXL2	8	23167365	Missense_Mutation	SNP	G	TCGA-HT-7616-01A-11D-2253-08		23167365	123196657	31	27356											
RB1CC1	9821	broad.mit.edu	37	8	53569559	53569559	+	Missense_Mutation	SNP	G	G	C			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr8:53569559G>C	ENST00000025008.5	-	15	3353	c.2830C>G	c.(2830-2832)Caa>Gaa	p.Q944E	RB1CC1_ENST00000539297.1_Missense_Mutation_p.Q944E|RB1CC1_ENST00000435644.2_Missense_Mutation_p.Q944E|RB1CC1_ENST00000521611.1_Intron	NM_014781.4	NP_055596.3	Q8TDY2	RBCC1_HUMAN	RB1-inducible coiled-coil 1	944					autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	protein binding			NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				TCACAATTTTGAGAGTGCATT	0.323													19	39					0	0	1	0	0	C	53569559	G	C	53569559	3	2	257	1	0	0	0	0	1	0	0	0	13151	1299	45	5	1994	5	RB1CC1	8	53569559	Missense_Mutation	SNP	G	TCGA-HT-7616-01A-11D-2253-08	30402194	53569559	92794463	32	27357											
DMRT3	58524	broad.mit.edu	37	9	977181	977181	+	Silent	SNP	C	C	G			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr9:977181C>G	ENST00000190165.2	+	1	218	c.180C>G	c.(178-180)ctC>ctG	p.L60L		NM_021240.2	NP_067063.1	Q9NQL9	DMRT3_HUMAN	doublesex and mab-3 related transcription factor 3	60					cell differentiation|multicellular organismal development|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08)		Lung(218;0.0196)		AGTGCATCCTCATCATCGAGC	0.667													4	41					0	0	1	0	0	G	977181	C	G	977181	2	3	257	1	0	0	0	0	0	0	0	1	4615	813	29	5		5	DMRT3	9	977181	Silent	SNP	C	TCGA-HT-7616-01A-11D-2253-08		977181	140236250	33	27358											
ASB6	140459	broad.mit.edu	37	9	132401579	132401580	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr9:132401579_132401580delCT	ENST00000277458.4	-	4	577_578	c.412_413delAG	c.(412-414)agtfs	p.S139fs	ASB6_ENST00000277459.4_Intron|ASB6_ENST00000450050.2_Frame_Shift_Del_p.S60fs	NM_017873.3	NP_060343.1	Q9NWX5	ASB6_HUMAN	ankyrin repeat and SOCS box containing 6	139					intracellular signal transduction	cytoplasm				NS(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)	15		Ovarian(14;0.00556)				CAAGGGGCTACTCTCGTGGATC	0.624													25	54	---	---	---	---						-	132401580	CT	-	132401579	7	5	257	1	0	1	0	1	0	0	0	0	1026	565	20	0	864	0	ASB6	9	132401579	Frame_Shift_Del	DEL	CT	TCGA-HT-7616-01A-11D-2253-08	131424398	132401579	8811852	34	27359											
RET	5979	broad.mit.edu	37	10	43622043	43622043	+	Silent	SNP	G	G	A			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr10:43622043G>A	ENST00000355710.3	+	19	3292	c.3060G>A	c.(3058-3060)gcG>gcA	p.A1020A	RET_ENST00000340058.5_Silent_p.A1020A	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	1020					homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Sunitinib(DB01268)	ACCTTGCGGCGTCCACTCCAT	0.552		1	"T, Mis, N, F"	"H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"	"medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"	"medullary thyroid,  papillary thyroid, pheochromocytoma"	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma				176	240					0	0	1	0	0	A	43622043	G	A	43622043	2	1	257	1	0	0	0	0	0	0	0	1	13287	1132	40	1		1	RET	10	43622043	Silent	SNP	G	TCGA-HT-7616-01A-11D-2253-08		43622043	91912704	35	27360											
OR4A47	403253	broad.mit.edu	37	11	48511063	48511063	+	Missense_Mutation	SNP	C	C	A			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr11:48511063C>A	ENST00000446524.1	+	1	795	c.719C>A	c.(718-720)tCc>tAc	p.S240Y		NM_001005512.2	NP_001005512.2	Q6IF82	O4A47_HUMAN	olfactory receptor, family 4, subfamily A, member 47	240					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2)	29						ACCTGCAGTTCCCACATGACT	0.413													13	141					4.3838e-07	4.84875e-07	1	1	0	A	48511063	C	A	48511063	3	1	257	1	0	0	0	0	1	0	0	0	11090	855	30	5	721	5	OR4A47	11	48511063	Missense_Mutation	SNP	C	TCGA-HT-7616-01A-11D-2253-08		48511063	86495453	36	27361											
NELL2	4753	broad.mit.edu	37	12	45000951	45000951	+	Splice_Site	SNP	C	C	T			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr12:45000951C>T	ENST00000429094.2	-	15	2168		c.e15+1		NELL2_ENST00000551601.1_Splice_Site|NELL2_ENST00000452445.2_Splice_Site|NELL2_ENST00000437801.2_Splice_Site|NELL2_ENST00000333837.4_Splice_Site|NELL2_ENST00000549027.1_Splice_Site|NELL2_ENST00000395487.2_Splice_Site	NM_001145108.1	NP_001138580.1	Q99435	NELL2_HUMAN	NEL-like 2 (chicken)						cell adhesion	extracellular region	calcium ion binding|protein binding|structural molecule activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		GATATTCTTACCCGTTTCACA	0.408													5	41					0	0	1	0	0	T	45000951	C	T	45000951	5	4	257	1	0	0	0	0	0	0	1	0	10381	521	18	2	810	2	NELL2	12	45000951	Splice_Site	SNP	C	TCGA-HT-7616-01A-11D-2253-08		45000951	88850944	37	27362											
NAB2	4665	broad.mit.edu	37	12	57487218	57487218	+	Silent	SNP	G	G	A			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr12:57487218G>A	ENST00000300131.3	+	6	1683	c.1305G>A	c.(1303-1305)ccG>ccA	p.P435P	NAB2_ENST00000357680.4_3'UTR|NAB2_ENST00000342556.6_Intron	NM_005967.3	NP_005958.1	Q15742	NAB2_HUMAN	NGFI-A binding protein 2 (EGR1 binding protein 2)	435					cell proliferation|negative regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	nucleus	transcription corepressor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	20						GGCTGACGCCGCCCCCTGCTG	0.657													3	14					0	0	1	0	0	A	57487218	G	A	57487218	2	1	257	1	0	0	0	0	0	0	0	1	10180	1074	38	1		1	NAB2	12	57487218	Silent	SNP	G	TCGA-HT-7616-01A-11D-2253-08	12486267	57487218	76364677	38	27363											
TMBIM4	51643	broad.mit.edu	37	12	66531809	66531809	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr12:66531809G>T	ENST00000358230.3	-	7	768	c.648C>A	c.(646-648)agC>agA	p.S216R	TMBIM4_ENST00000542724.1_Missense_Mutation_p.S185R|TMBIM4_ENST00000539652.1_3'UTR|TMBIM4_ENST00000556010.1_3'UTR|TMBIM4_ENST00000544599.1_Missense_Mutation_p.S39R|TMBIM4_ENST00000286424.7_Missense_Mutation_p.S263R|TMBIM4_ENST00000398033.4_3'UTR	NM_016056.2	NP_057140.2	Q9HC24	TMBI4_HUMAN	transmembrane BAX inhibitor motif containing 4	216						integral to membrane	protein binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|ovary(1)|prostate(2)	9				GBM - Glioblastoma multiforme(28;0.0745)		CCAAGTAGAGGCTGATGGCAG	0.413													4	129					0.00198382	0.0020397	1	1	0	T	66531809	G	T	66531809	3	4	257	1	0	0	0	0	1	0	0	0	16042	1194	42	5	72	5	TMBIM4	12	66531809	Missense_Mutation	SNP	G	TCGA-HT-7616-01A-11D-2253-08	9044591	66531809	67320086	39	27364											
TMEM19	55266	broad.mit.edu	37	12	72094645	72094645	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr12:72094645G>A	ENST00000266673.5	+	6	1475	c.881G>A	c.(880-882)aGc>aAc	p.S294N		NM_018279.3	NP_060749.2	Q96HH6	TMM19_HUMAN	transmembrane protein 19	294						integral to membrane				large_intestine(1)|lung(8)	9		Breast(359;0.0889)		GBM - Glioblastoma multiforme(134;0.044)		GTGGTCAACAGCCCAACAAAT	0.413													8	196					0	0	1	0	0	A	72094645	G	A	72094645	3	1	257	1	0	0	0	0	1	0	0	0	16173	971	34	2	903	2	TMEM19	12	72094645	Missense_Mutation	SNP	G	TCGA-HT-7616-01A-11D-2253-08	5562836	72094645	61757250	40	27365											
SLC5A8	160728	broad.mit.edu	37	12	101573832	101573832	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr12:101573832G>A	ENST00000536262.2	-	10	1766	c.1208C>T	c.(1207-1209)gCg>gTg	p.A403V		NM_145913.3	NP_666018.3	Q8N695	SC5A8_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8	403					apoptosis|sodium ion transport	apical plasma membrane|integral to membrane	monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						CATAAGTGACGCCAGCGCAGC	0.443													63	168					0	0	1	0	0	A	101573832	G	A	101573832	3	1	257	1	0	0	0	0	1	0	0	0	14726	1087	38	1	648	1	SLC5A8	12	101573832	Missense_Mutation	SNP	G	TCGA-HT-7616-01A-11D-2253-08	29479187	101573832	32278063	41	27366											
SRRM4	84530	broad.mit.edu	37	12	119583235	119583235	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr12:119583235C>T	ENST00000267260.4	+	9	1209	c.821C>T	c.(820-822)cCg>cTg	p.P274L		NM_194286.3	NP_919262.2	A7MD48	SRRM4_HUMAN	serine/arginine repetitive matrix 4	274	Ser-rich.				cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						ACAGCCAGCCCGCTCACCACC	0.612													4	8					0	0	1	0	0	T	119583235	C	T	119583235	3	4	257	1	0	0	0	0	1	0	0	0	15227	652	23	1	855	1	SRRM4	12	119583235	Missense_Mutation	SNP	C	TCGA-HT-7616-01A-11D-2253-08	18009403	119583235	14268660	42	27367											
NPAS3	64067	broad.mit.edu	37	14	34269615	34269615	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr14:34269615G>A	ENST00000346562.2	+	11	2080	c.2006G>A	c.(2005-2007)gGt>gAt	p.G669D	NPAS3_ENST00000548645.1_Missense_Mutation_p.G671D|NPAS3_ENST00000357798.5_Missense_Mutation_p.G688D|NPAS3_ENST00000356141.4_Missense_Mutation_p.G701D|NPAS3_ENST00000551492.1_Missense_Mutation_p.G706D	NM_001164749.1|NM_001165893.1|NM_022123.2|NM_173159.2	NP_001158221.1|NP_001159365.1|NP_071406.1|NP_775182.1	Q8IXF0	NPAS3_HUMAN	neuronal PAS domain protein 3	701					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)		GGCGGTGGGGGTGGCGGTGGC	0.746													3	54					0	0	1	0	0	A	34269615	G	A	34269615	3	1	257	1	0	0	0	0	1	0	0	0	10611	1261	44	2	2203	2	NPAS3	14	34269615	Missense_Mutation	SNP	G	TCGA-HT-7616-01A-11D-2253-08		34269615	73079925	43	27368											
ZC3H14	79882	broad.mit.edu	37	14	89044394	89044394	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr14:89044394G>A	ENST00000251038.5	+	9	1414	c.1189G>A	c.(1189-1191)Gaa>Aaa	p.E397K	ZC3H14_ENST00000555755.1_Missense_Mutation_p.E397K|ZC3H14_ENST00000557607.1_Missense_Mutation_p.E242K|ZC3H14_ENST00000557605.1_3'UTR|ZC3H14_ENST00000336693.4_Missense_Mutation_p.E363K|ZC3H14_ENST00000393514.5_Missense_Mutation_p.E397K|ZC3H14_ENST00000556945.1_Missense_Mutation_p.E397K|ZC3H14_ENST00000302216.8_Missense_Mutation_p.E397K|ZC3H14_ENST00000359301.3_Missense_Mutation_p.E363K	NM_001160103.1|NM_001160104.1|NM_024824.4	NP_001153575.1|NP_001153576.1|NP_079100.2	Q6PJT7	ZC3HE_HUMAN	zinc finger CCCH-type containing 14	397						cytoplasm|nuclear speck	protein binding|RNA binding|zinc ion binding			cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(2)	21						ATTGCTAGCAGAAGTGGTCCA	0.388													43	62					0	0	1	0	0	A	89044394	G	A	89044394	3	1	257	1	0	0	0	0	1	0	0	0	17625	943	33	2	1223	2	ZC3H14	14	89044394	Missense_Mutation	SNP	G	TCGA-HT-7616-01A-11D-2253-08	54774779	89044394	18305146	44	27369											
AHNAK2	113146	broad.mit.edu	37	14	105409805	105409805	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr14:105409805C>T	ENST00000333244.5	-	7	12102	c.11983G>A	c.(11983-11985)Gcg>Acg	p.A3995T	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3995						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			ACCTTTGGCGCGGTCACATCC	0.612													118	198					0	0	1	0	0	T	105409805	C	T	105409805	3	4	257	1	0	0	0	0	1	0	0	0	412	768	27	1	5408	1	AHNAK2	14	105409805	Missense_Mutation	SNP	C	TCGA-HT-7616-01A-11D-2253-08	16365411	105409805	1939735	45	27370											
SLCO3A1	28232	broad.mit.edu	37	15	92663795	92663796	+	Frame_Shift_Ins	INS	-	-	T	rs34062402		TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr15:92663795_92663796insT	ENST00000318445.6	+	5	1324_1325	c.1110_1111insT	c.(1111-1113)tttfs	p.F371fs	SLCO3A1_ENST00000424469.2_Frame_Shift_Ins_p.F371fs|SLCO3A1_ENST00000555549.1_3'UTR	NM_013272.3	NP_037404.2	Q9UIG8	SO3A1_HUMAN	solute carrier organic anion transporter family, member 3A1	371					sodium-independent organic anion transport	integral to membrane|plasma membrane	sodium-independent organic anion transmembrane transporter activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	25	Lung NSC(78;0.0158)|all_lung(78;0.0255)		BRCA - Breast invasive adenocarcinoma(143;0.0841)			GCTTCGCTGCCTTTTTGGGGAA	0.584													47	358	---	---	---	---						T	92663796	-	T	92663795	7	5	257	1	0	1	1	0	0	0	0	0	14783	668	24	0	1128	0	SLCO3A1	15	92663795	Frame_Shift_Ins	INS	-	TCGA-HT-7616-01A-11D-2253-08		92663795	9867597	46	27371											
CCDC135	84229	broad.mit.edu	37	16	57732824	57732824	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr16:57732824C>G	ENST00000360716.3	+	4	487	c.266C>G	c.(265-267)cCc>cGc	p.P89R	CCDC135_ENST00000336825.8_Missense_Mutation_p.P89R|RP11-405F3.4_ENST00000563062.1_RNA|CCDC135_ENST00000394337.4_Missense_Mutation_p.P89R			Q8IY82	CC135_HUMAN	coiled-coil domain containing 135	89						cytoplasm				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						ACCAACACACCCAAGGAGGAA	0.577													43	227					0	0	1	0	0	G	57732824	C	G	57732824	3	3	257	1	0	0	0	0	1	0	0	0	2787	623	22	5	272	5	CCDC135	16	57732824	Missense_Mutation	SNP	C	TCGA-HT-7616-01A-11D-2253-08		57732824	32621929	47	27372											
APPBP2	10513	broad.mit.edu	37	17	58571849	58571849	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr17:58571849delG	ENST00000083182.3	-	3	644	c.357delC	c.(355-357)gccfs	p.A119fs		NM_001282476.1|NM_006380.2	NP_001269405.1|NP_006371.2	Q92624	APBP2_HUMAN	amyloid beta precursor protein (cytoplasmic tail) binding protein 2	119					intracellular protein transport	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|nucleus	microtubule motor activity|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(17)|pancreas(1)|urinary_tract(1)	25	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.67e-13)|all cancers(12;1.44e-11)|Colorectal(3;0.01)			CAACCTGAATGGCTTTTTCCT	0.403													32	78	---	---	---	---						-	58571849	G	-	58571849	7	5	257	1	0	1	0	1	0	0	0	0	813	1335	47	0	1444	0	APPBP2	17	58571849	Frame_Shift_Del	DEL	G	TCGA-HT-7616-01A-11D-2253-08		58571849	22623361	48	27373											
SLC7A9	11136	broad.mit.edu	37	19	33334813	33334813	+	Missense_Mutation	SNP	A	A	T			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr19:33334813A>T	ENST00000023064.4	-	10	1213	c.1022T>A	c.(1021-1023)cTt>cAt	p.L341H	SLC7A9_ENST00000587772.1_Missense_Mutation_p.L341H|SLC7A9_ENST00000590341.1_Missense_Mutation_p.L341H	NM_001126335.1|NM_001243036.1|NM_014270.4	NP_001119807.1|NP_001229965.1|NP_055085.1	P82251	BAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, bo,+ system), member 9	341					blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	integral to plasma membrane	L-cystine transmembrane transporter activity|neutral amino acid transmembrane transporter activity|peptide antigen binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32	Esophageal squamous(110;0.137)				L-Cystine(DB00138)	GATGTAAGAAAGCACTTTGAG	0.562													21	30					0	0	1	0	0	T	33334813	A	T	33334813	3	4	257	1	0	0	0	0	1	0	0	0	14760	72	3	5	457	5	SLC7A9	19	33334813	Missense_Mutation	SNP	A	TCGA-HT-7616-01A-11D-2253-08		33334813	25794170	49	27374											
CAPNS1	826	broad.mit.edu	37	19	36631958	36631958	+	Silent	SNP	C	C	G			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr19:36631958C>G	ENST00000246533.3	+	2	643	c.45C>G	c.(43-45)ggC>ggG	p.G15G	CAPNS1_ENST00000588815.1_Silent_p.G15G|CAPNS1_ENST00000589146.1_Silent_p.G15G|CAPNS1_ENST00000590874.1_Silent_p.G15G|CAPNS1_ENST00000588780.1_Silent_p.G15G|CAPNS1_ENST00000587718.1_Silent_p.G15G	NM_001003962.1|NM_001749.2	NP_001003962.1|NP_001740.1	P04632	CPNS1_HUMAN	calpain, small subunit 1	15	Gly-rich (hydrophobic).|Poly-Gly.				positive regulation of cell proliferation	cytoplasm|plasma membrane	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			cervix(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	5	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			gcggcggcggcgggggaggcg	0.736													3	17					0	0	1	0	0	G	36631958	C	G	36631958	2	3	257	1	0	0	0	0	0	0	0	1	2651	755	27	5		5	CAPNS1	19	36631958	Silent	SNP	C	TCGA-HT-7616-01A-11D-2253-08	3297145	36631958	22497025	50	27375											
CIC	23152	broad.mit.edu	37	19	42795390	42795390	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr19:42795390C>T	ENST00000572681.2	+	11	5265	c.5197C>T	c.(5197-5199)Cag>Tag	p.Q1733*	CIC_ENST00000575354.2_Nonsense_Mutation_p.Q824*|CIC_ENST00000160740.3_Nonsense_Mutation_p.Q824*			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	824					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				GGGAATCACCCAGGTACAGTA	0.692			"Mis, F, S"		oligodendroglioma								4	16					0	0	1	0	0	T	42795390	C	T	42795390	4	4	257	1	0	0	0	0	0	1	0	0	3446	595	21	2	2508	2	CIC	19	42795390	Nonsense_Mutation	SNP	C	TCGA-HT-7616-01A-11D-2253-08	6163432	42795390	16333593	51	27376											
PPFIA3	8541	broad.mit.edu	37	19	49651494	49651494	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr19:49651494A>G	ENST00000334186.4	+	24	3339	c.2990A>G	c.(2989-2991)aAg>aGg	p.K997R	PPFIA3_ENST00000602351.1_Missense_Mutation_p.K988R	NM_003660.2	NP_003651.1	O75145	LIPA3_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3	997	SAM 2.					cell surface|cytoplasm	protein binding			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(16)|pancreas(1)|prostate(1)|skin(4)|urinary_tract(1)	35		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)		GGCCAACTCAAGATGGTGGAC	0.582													19	15					0	0	1	0	0	G	49651494	A	G	49651494	3	3	257	1	0	0	0	0	1	0	0	0	12356	72	3	3	3080	3	PPFIA3	19	49651494	Missense_Mutation	SNP	A	TCGA-HT-7616-01A-11D-2253-08	6856104	49651494	9477489	52	27377											
RSPO4	343637	broad.mit.edu	37	20	944643	944643	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr20:944643T>C	ENST00000217260.4	-	4	626	c.530A>G	c.(529-531)gAg>gGg	p.E177G	RSPO4_ENST00000400634.2_Intron	NM_001029871.3	NP_001025042.2	Q2I0M5	RSPO4_HUMAN	R-spondin 4	177	TSP type-1.				Wnt receptor signaling pathway	extracellular region	heparin binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7						GGTGGCTGCCTCCTCATGCCC	0.672													8	79					0	0	1	0	0	C	944643	T	C	944643	3	2	257	1	0	0	0	0	1	0	0	0	13764	1551	54	3	182	3	RSPO4	20	944643	Missense_Mutation	SNP	T	TCGA-HT-7616-01A-11D-2253-08		944643	62080877	53	27378											
STMN3	50861	broad.mit.edu	37	20	62273610	62273610	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr20:62273610C>T	ENST00000370053.1	-	4	415	c.334G>A	c.(334-336)Gag>Aag	p.E112K	STMN3_ENST00000540534.1_Missense_Mutation_p.E101K	NM_001276310.1|NM_015894.2	NP_001263239.1|NP_056978.2	Q9NZ72	STMN3_HUMAN	stathmin-like 3	112					cytoplasmic microtubule organization|intracellular signal transduction|negative regulation of Rac protein signal transduction|neuron projection development|regulation of cytoskeleton organization|regulation of Rac GTPase activity	cytoplasm	protein domain specific binding			kidney(1)|large_intestine(1)|lung(5)|prostate(1)	8	all_cancers(38;2.31e-11)|all_epithelial(29;7.76e-13)		Epithelial(9;1.9e-09)|all cancers(9;1.22e-08)|BRCA - Breast invasive adenocarcinoma(10;8.86e-06)|OV - Ovarian serous cystadenocarcinoma(5;0.00559)			CGCTCGTGCTCGCGCCGCTCC	0.692													6	25					0	0	1	0	0	T	62273610	C	T	62273610	3	4	257	1	0	0	0	0	1	0	0	0	15366	893	31	1	216	1	STMN3	20	62273610	Missense_Mutation	SNP	C	TCGA-HT-7616-01A-11D-2253-08	61328967	62273610	751910	54	27379											
MX2	4600	broad.mit.edu	37	21	42749752	42749752	+	Nonsense_Mutation	SNP	A	A	T			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr21:42749752A>T	ENST00000330714.3	+	3	470	c.286A>T	c.(286-288)Aag>Tag	p.K96*	MX2_ENST00000543692.1_Nonsense_Mutation_p.K96*	NM_002463.1	NP_002454.1	P20592	MX2_HUMAN	myxovirus (influenza virus) resistance 2 (mouse)	96					response to virus|type I interferon-mediated signaling pathway	cytoplasm|nucleus	GTP binding|GTPase activity			breast(2)|endometrium(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	34		Prostate(19;1.57e-07)|all_epithelial(19;0.0222)				GTACGAGCAGAAGGTGCGCCC	0.627													27	76					0	0	1	0	0	T	42749752	A	T	42749752	4	4	257	1	0	0	0	0	0	1	0	0	10046	247	9	5	292	5	MX2	21	42749752	Nonsense_Mutation	SNP	A	TCGA-HT-7616-01A-11D-2253-08		42749752	5380143	55	27380											
COL18A1	80781	broad.mit.edu	37	21	46924342	46924342	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr21:46924342G>T	ENST00000359759.4	+	33	4006	c.3985G>T	c.(3985-3987)Gac>Tac	p.D1329Y	SLC19A1_ENST00000567670.1_Intron|COL18A1_ENST00000400337.2_Missense_Mutation_p.D914Y|COL18A1_ENST00000355480.5_Missense_Mutation_p.D1094Y			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	1329	Triple-helical region 8 (COL8).				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		GGAGAAGGGAGACCGAGGTGA	0.706													3	32					0.000602214	0.000637125	1	1	0	T	46924342	G	T	46924342	3	4	257	1	0	0	0	0	1	0	0	0	3698	942	33	4	4229	4	COL18A1	21	46924342	Missense_Mutation	SNP	G	TCGA-HT-7616-01A-11D-2253-08	4174590	46924342	1205553	56	27381											
IGLL1	3543	broad.mit.edu	37	22	23922291	23922293	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr22:23922291_23922293delCAG	ENST00000330377.2	-	1	202_204	c.85_87delCTG	c.(85-87)ctgdel	p.L29del	IGLL1_ENST00000249053.3_In_Frame_Del_p.L29del	NM_020070.3	NP_064455.1	P15814	IGLL1_HUMAN	immunoglobulin lambda-like polypeptide 1	29					immune response	extracellular region|membrane				kidney(1)|large_intestine(1)|lung(5)|skin(4)|stomach(1)	12						CGGCCAGACCCAGCAGCAGCAGG	0.719													3	4	---	---	---	---						-	23922293	CAG	-	23922291	7	5	257	1	0	1	0	1	0	0	0	0	7637	581	21	0	566	0	IGLL1	22	23922291	In_Frame_Del	DEL	CAG	TCGA-HT-7616-01A-11D-2253-08		23922291	27382275	57	27382											
MXRA5	25878	broad.mit.edu	37	X	3241681	3241681	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chrX:3241681C>T	ENST00000217939.6	-	5	2199	c.2045G>A	c.(2044-2046)cGc>cAc	p.R682H		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	682						extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				TGCACCTGGGCGTCTGCCTCT	0.532													24	18					0	0	1	0	0	T	3241681	C	T	3241681	3	4	257	1	0	0	0	0	1	0	0	0	10051	768	27	1	6453	1	MXRA5	23	3241681	Missense_Mutation	SNP	C	TCGA-HT-7616-01A-11D-2253-08		3241681	152028879	58	27383											
RS1	6247	broad.mit.edu	37	X	18665417	18665417	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chrX:18665417C>G	ENST00000379984.3	-	4	260	c.220G>C	c.(220-222)Ggg>Cgg	p.G74R	CDKL5_ENST00000379996.3_Intron|RS1_ENST00000476595.1_5'UTR|CDKL5_ENST00000379989.3_Intron	NM_000330.3	NP_000321.1	O15537	XLRS1_HUMAN	retinoschisin 1	74	F5/8 type C.		G -> V (in XLRS1).		cell adhesion|multicellular organismal development|response to stimulus|visual perception	extracellular space				cervix(1)|endometrium(4)|large_intestine(5)|lung(2)|ovary(2)|skin(1)	15	Hepatocellular(33;0.183)					GTGACCTCCCCTGACTCGAAA	0.507													15	46					0	0	1	0	0	G	18665417	C	G	18665417	3	3	257	1	0	0	0	0	1	0	0	0	13745	681	24	4	466	4	RS1	23	18665417	Missense_Mutation	SNP	C	TCGA-HT-7616-01A-11D-2253-08	15423736	18665417	136605143	59	27384											
FUBP1	8880	broad.mit.edu	37	1	78429792	78429792	+	Nonsense_Mutation	SNP	A	A	T			TCGA-HT-7620-01A-11D-2253-08	TCGA-HT-7620-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e2dba25-2fc2-4f3b-90f0-663e1576a6bf	1f1dbf44-a66f-478b-9efa-9e76ca91f4bc	g.chr1:78429792A>T	ENST00000370767.1	-	12	1083	c.996T>A	c.(994-996)tgT>tgA	p.C332*	FUBP1_ENST00000436586.2_Nonsense_Mutation_p.C353*|FUBP1_ENST00000370768.2_Nonsense_Mutation_p.C332*			Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1	332	KH 3.				transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						CAGCATGTTGACATCGGTCTG	0.328			"F, N"		oligodendroglioma								21	66					0	0	1	0	0	T	78429792	A	T	78429792	4	4	258	1	0	0	0	0	0	1	0	0	6127	273	10	5	974	5	FUBP1	1	78429792	Nonsense_Mutation	SNP	A	TCGA-HT-7620-01A-11D-2253-08		78429792	170820829	1	27385											
CFH	3075	broad.mit.edu	37	1	196648911	196648911	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7620-01A-11D-2253-08	TCGA-HT-7620-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e2dba25-2fc2-4f3b-90f0-663e1576a6bf	1f1dbf44-a66f-478b-9efa-9e76ca91f4bc	g.chr1:196648911C>T	ENST00000367429.4	+	6	1018	c.778C>T	c.(778-780)Cct>Tct	p.P260S	CFH_ENST00000359637.2_Missense_Mutation_p.P196S|CFH_ENST00000439155.2_Missense_Mutation_p.P260S	NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	260	Sushi 4.				complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						GCGTCCGTTGCCTTCATGTGA	0.294													5	28					0	0	1	0	0	T	196648911	C	T	196648911	3	4	258	1	0	0	0	0	1	0	0	0	3305	739	26	2	800	2	CFH	1	196648911	Missense_Mutation	SNP	C	TCGA-HT-7620-01A-11D-2253-08	118219119	196648911	52601710	2	27386											
CNST	163882	broad.mit.edu	37	1	246810446	246810446	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7620-01A-11D-2253-08	TCGA-HT-7620-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e2dba25-2fc2-4f3b-90f0-663e1576a6bf	1f1dbf44-a66f-478b-9efa-9e76ca91f4bc	g.chr1:246810446A>G	ENST00000366513.4	+	9	1212	c.943A>G	c.(943-945)Aaa>Gaa	p.K315E	CNST_ENST00000483271.1_3'UTR|CNST_ENST00000366512.3_Missense_Mutation_p.K315E	NM_152609.2	NP_689822.2	Q6PJW8	CNST_HUMAN	consortin, connexin sorting protein	315					positive regulation of Golgi to plasma membrane protein transport	integral to membrane|plasma membrane|protein complex|trans-Golgi network|transport vesicle	connexin binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|urinary_tract(2)	28						TTTAGAGAGTAAAACTTGTCT	0.388											OREG0014367	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	40					0	0	1	0	0	G	246810446	A	G	246810446	3	3	258	1	0	0	0	0	1	0	0	0	3657	363	13	3	973	3	CNST	1	246810446	Missense_Mutation	SNP	A	TCGA-HT-7620-01A-11D-2253-08	50161535	246810446	2440175	3	27387											
CCT7	10574	broad.mit.edu	37	2	73478419	73478419	+	Nonsense_Mutation	SNP	C	C	G			TCGA-HT-7620-01A-11D-2253-08	TCGA-HT-7620-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e2dba25-2fc2-4f3b-90f0-663e1576a6bf	1f1dbf44-a66f-478b-9efa-9e76ca91f4bc	g.chr2:73478419C>G	ENST00000539919.1	+	12	1508	c.1137C>G	c.(1135-1137)taC>taG	p.Y379*	CCT7_ENST00000398422.2_Nonsense_Mutation_p.Y219*|CCT7_ENST00000540468.1_Nonsense_Mutation_p.Y336*|CCT7_ENST00000538797.1_Nonsense_Mutation_p.Y295*|CCT7_ENST00000537131.1_Nonsense_Mutation_p.Y323*|CCT7_ENST00000258091.5_Nonsense_Mutation_p.Y423*	NM_001166285.1	NP_001159757.1	Q99832	TCPH_HUMAN	chaperonin containing TCP1, subunit 7 (eta)	423					'de novo' posttranslational protein folding		ATP binding|unfolded protein binding			breast(1)|cervix(1)|endometrium(1)|lung(3)|stomach(1)	7						TGCGGGATTACTCAAGGACTA	0.517													24	81					0	0	1	0	0	G	73478419	C	G	73478419	4	3	258	1	0	0	0	0	0	1	0	0	2981	576	20	4	1311	4	CCT7	2	73478419	Nonsense_Mutation	SNP	C	TCGA-HT-7620-01A-11D-2253-08		73478419	169720954	4	27388											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-HT-7620-01A-11D-2253-08	TCGA-HT-7620-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e2dba25-2fc2-4f3b-90f0-663e1576a6bf	1f1dbf44-a66f-478b-9efa-9e76ca91f4bc	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	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								13	55					0	0	1	0	0	T	209113112	C	T	209113112	3	4	258	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HT-7620-01A-11D-2253-08	135634693	209113112	34086261	5	27389											
PIK3CA	5290	broad.mit.edu	37	3	178916938	178916940	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-HT-7620-01A-11D-2253-08	TCGA-HT-7620-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e2dba25-2fc2-4f3b-90f0-663e1576a6bf	1f1dbf44-a66f-478b-9efa-9e76ca91f4bc	g.chr3:178916938_178916940delGAA	ENST00000263967.3	+	2	482_484	c.325_327delGAA	c.(325-327)gaadel	p.E110del		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	110					epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E109del(3)|p.G106_R108del(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			AGGCAACCGTGAAGAAAAGATCC	0.34		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			9	38	---	---	---	---						-	178916940	GAA	-	178916938	7	5	258	1	0	1	0	1	0	0	0	0	11961	1291	45	0	327	0	PIK3CA	3	178916938	In_Frame_Del	DEL	GAA	TCGA-HT-7620-01A-11D-2253-08		178916938	19105492	6	27390											
KLHL5	51088	broad.mit.edu	37	4	39088270	39088270	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7620-01A-11D-2253-08	TCGA-HT-7620-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e2dba25-2fc2-4f3b-90f0-663e1576a6bf	1f1dbf44-a66f-478b-9efa-9e76ca91f4bc	g.chr4:39088270C>T	ENST00000261425.3	+	6	1188	c.1036C>T	c.(1036-1038)Cgt>Tgt	p.R346C	KLHL5_ENST00000381930.3_Missense_Mutation_p.R392C|KLHL5_ENST00000504108.1_Missense_Mutation_p.R392C|KLHL5_ENST00000261426.5_Missense_Mutation_p.R331C|KLHL5_ENST00000508137.2_Missense_Mutation_p.R205C|KLHL5_ENST00000359687.2_Missense_Mutation_p.R392C	NM_001007075.2	NP_001007076.1	Q96PQ7	KLHL5_HUMAN	kelch-like family member 5	392						cytoplasm|cytoskeleton	actin binding			endometrium(3)|kidney(1)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29						TACTTGGGTCCGTCATGATTT	0.388													5	42					0	0	1	0	0	T	39088270	C	T	39088270	3	4	258	1	0	0	0	0	1	0	0	0	8435	652	23	1	1192	1	KLHL5	4	39088270	Missense_Mutation	SNP	C	TCGA-HT-7620-01A-11D-2253-08		39088270	152066006	7	27391											
CAMK2D	817	broad.mit.edu	37	4	114436309	114436309	+	Silent	SNP	G	G	A			TCGA-HT-7620-01A-11D-2253-08	TCGA-HT-7620-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e2dba25-2fc2-4f3b-90f0-663e1576a6bf	1f1dbf44-a66f-478b-9efa-9e76ca91f4bc	g.chr4:114436309G>A	ENST00000454265.2	-	10	1593	c.735C>T	c.(733-735)gcC>gcT	p.A245A	CAMK2D_ENST00000342666.5_Silent_p.A245A|CAMK2D_ENST00000511664.1_Silent_p.A245A|CAMK2D_ENST00000394526.2_Silent_p.A245A|CAMK2D_ENST00000379773.2_Silent_p.A245A|CAMK2D_ENST00000394524.3_Silent_p.A245A|CAMK2D_ENST00000508738.1_Silent_p.A245A|CAMK2D_ENST00000394522.3_Silent_p.A245A|CAMK2D_ENST00000429180.1_Silent_p.A245A|CAMK2D_ENST00000514328.1_Silent_p.A245A|CAMK2D_ENST00000515496.1_Silent_p.A245A|CAMK2D_ENST00000418639.2_Silent_p.A245A|CAMK2D_ENST00000296402.5_Silent_p.A245A|CAMK2D_ENST00000505990.1_Silent_p.A245A			Q13557	KCC2D_HUMAN	calcium/calmodulin-dependent protein kinase II delta	245	Protein kinase.				interferon-gamma-mediated signaling pathway|regulation of cell growth|synaptic transmission	calcium- and calmodulin-dependent protein kinase complex|cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	13		Ovarian(17;0.00369)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000271)		TGAGGTCTTTGGCTTCAGGAG	0.398													15	64					0	0	1	0	0	A	114436309	G	A	114436309	2	1	258	1	0	0	0	0	0	0	0	1	2619	1335	47	2		2	CAMK2D	4	114436309	Silent	SNP	G	TCGA-HT-7620-01A-11D-2253-08	75348039	114436309	76717967	8	27392											
SRD5A1	6715	broad.mit.edu	37	5	6663021	6663021	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7620-01A-11D-2253-08	TCGA-HT-7620-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e2dba25-2fc2-4f3b-90f0-663e1576a6bf	1f1dbf44-a66f-478b-9efa-9e76ca91f4bc	g.chr5:6663021G>A	ENST00000274192.5	+	4	889	c.655G>A	c.(655-657)Gcg>Acg	p.A219T	SRD5A1_ENST00000537411.1_3'UTR|SRD5A1_ENST00000538824.1_Missense_Mutation_p.A172T	NM_001047.2	NP_001038.1	P18405	S5A1_HUMAN	steroid-5-alpha-reductase, alpha polypeptide 1 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 1)	219					androgen biosynthetic process|cell differentiation|sex determination|sex differentiation	endoplasmic reticulum membrane|integral to membrane|microsome	3-oxo-5-alpha-steroid 4-dehydrogenase activity|electron carrier activity			endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19					Dutasteride(DB01126)|Finasteride(DB01216)	TGTCCAAGGCGCGGCTTTTGC	0.408													22	69					0	0	1	0	0	A	6663021	G	A	6663021	3	1	258	1	0	0	0	0	1	0	0	0	15194	1087	38	1	669	1	SRD5A1	5	6663021	Missense_Mutation	SNP	G	TCGA-HT-7620-01A-11D-2253-08		6663021	174252239	9	27393											
GRIA1	2890	broad.mit.edu	37	5	153175109	153175109	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7620-01A-11D-2253-08	TCGA-HT-7620-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e2dba25-2fc2-4f3b-90f0-663e1576a6bf	1f1dbf44-a66f-478b-9efa-9e76ca91f4bc	g.chr5:153175109T>C	ENST00000340592.5	+	14	2417	c.2344T>C	c.(2344-2346)Tac>Cac	p.Y782H	GRIA1_ENST00000521843.2_Intron|GRIA1_ENST00000448073.4_Missense_Mutation_p.Y792H|GRIA1_ENST00000518783.1_Intron|GRIA1_ENST00000285900.5_Intron|GRIA1_ENST00000518142.1_Intron	NM_001114183.1|NM_001258020.1	NP_001107655.1|NP_001244949.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	782					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	CAAATGGTGGTACGATAAAGG	0.473													8	34					0	0	1	0	0	C	153175109	T	C	153175109	3	2	258	1	0	0	0	0	1	0	0	0	6808	1638	57	3	2517	3	GRIA1	5	153175109	Missense_Mutation	SNP	T	TCGA-HT-7620-01A-11D-2253-08	146512088	153175109	27740151	10	27394											
SLC34A1	6569	broad.mit.edu	37	5	176825109	176825109	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7620-01A-11D-2253-08	TCGA-HT-7620-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e2dba25-2fc2-4f3b-90f0-663e1576a6bf	1f1dbf44-a66f-478b-9efa-9e76ca91f4bc	g.chr5:176825109G>A	ENST00000324417.5	+	13	1833	c.1742G>A	c.(1741-1743)cGc>cAc	p.R581H	SLC34A1_ENST00000513614.1_3'UTR	NM_003052.4	NP_003043.3	Q06495	NPT2A_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 1	581					phosphate ion homeostasis|response to cadmium ion|response to lead ion|response to mercury ion|sodium ion transport	brush border membrane|integral to plasma membrane	protein binding|sodium-dependent phosphate transmembrane transporter activity|symporter activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TTCCTGCCTCGCTGGATGCAC	0.667													13	53					0	0	1	0	0	A	176825109	G	A	176825109	3	1	258	1	0	0	0	0	1	0	0	0	14622	1087	38	1	1879	1	SLC34A1	5	176825109	Missense_Mutation	SNP	G	TCGA-HT-7620-01A-11D-2253-08	23650000	176825109	4090151	11	27395											
SCAND3	114821	broad.mit.edu	37	6	28540669	28540669	+	Silent	SNP	G	G	A			TCGA-HT-7620-01A-11D-2253-08	TCGA-HT-7620-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e2dba25-2fc2-4f3b-90f0-663e1576a6bf	1f1dbf44-a66f-478b-9efa-9e76ca91f4bc	g.chr6:28540669G>A	ENST00000452236.2	-	4	3614	c.2997C>T	c.(2995-2997)tgC>tgT	p.C999C		NM_052923.1	NP_443155.1	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	999					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						gatgaatgaagcaatgtgttg	0.328													13	67					0	0	1	0	0	A	28540669	G	A	28540669	2	1	258	1	0	0	0	0	0	0	0	1	13929	963	34	2		2	SCAND3	6	28540669	Silent	SNP	G	TCGA-HT-7620-01A-11D-2253-08		28540669	142574398	12	27396											
TFAP2B	7021	broad.mit.edu	37	6	50807962	50807962	+	Missense_Mutation	SNP	C	C	A			TCGA-HT-7620-01A-11D-2253-08	TCGA-HT-7620-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e2dba25-2fc2-4f3b-90f0-663e1576a6bf	1f1dbf44-a66f-478b-9efa-9e76ca91f4bc	g.chr6:50807962C>A	ENST00000263046.4	+	7	1227	c.1061C>A	c.(1060-1062)aCa>aAa	p.T354K	TFAP2B_ENST00000393655.3_Missense_Mutation_p.T345K			Q92481	AP2B_HUMAN	transcription factor AP-2 beta (activating enhancer binding protein 2 beta)	345					nervous system development|positive regulation of transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)	40	Lung NSC(77;0.156)					CGGCAGCACACAGACCCGAGT	0.517													12	72					7.03913e-09	7.24616e-09	1	1	0	A	50807962	C	A	50807962	3	1	258	1	0	0	0	0	1	0	0	0	15848	478	17	5	1056	5	TFAP2B	6	50807962	Missense_Mutation	SNP	C	TCGA-HT-7620-01A-11D-2253-08	22267293	50807962	120307105	13	27397											
LAMA2	3908	broad.mit.edu	37	6	129823889	129823889	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7620-01A-11D-2253-08	TCGA-HT-7620-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e2dba25-2fc2-4f3b-90f0-663e1576a6bf	1f1dbf44-a66f-478b-9efa-9e76ca91f4bc	g.chr6:129823889C>T	ENST00000421865.2	+	59	8379	c.8330C>T	c.(8329-8331)gCa>gTa	p.A2777V		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	2777	Laminin G-like 4.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		ATTGCAATTGCATTTGATGAC	0.408													6	36					0	0	1	0	0	T	129823889	C	T	129823889	3	4	258	1	0	0	0	0	1	0	0	0	8645	710	25	2	8564	2	LAMA2	6	129823889	Missense_Mutation	SNP	C	TCGA-HT-7620-01A-11D-2253-08	79015927	129823889	41291178	14	27398											
ANKRD30A	91074	broad.mit.edu	37	10	37419199	37419199	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7620-01A-11D-2253-08	TCGA-HT-7620-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e2dba25-2fc2-4f3b-90f0-663e1576a6bf	1f1dbf44-a66f-478b-9efa-9e76ca91f4bc	g.chr10:37419199G>A	ENST00000374660.1	+	3	334	c.235G>A	c.(235-237)Gta>Ata	p.V79I	ANKRD30A_ENST00000361713.1_Missense_Mutation_p.V79I|ANKRD30A_ENST00000602533.1_Missense_Mutation_p.V79I			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	135						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.V79I(1)		NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						TATAAATCTCGTAGATGTGTA	0.423													7	36					0	0	1	0	0	A	37419199	G	A	37419199	3	1	258	1	0	0	0	0	1	0	0	0	654	1145	40	1	245	1	ANKRD30A	10	37419199	Missense_Mutation	SNP	G	TCGA-HT-7620-01A-11D-2253-08		37419199	98115548	15	27399											
FOXM1	2305	broad.mit.edu	37	12	2968215	2968215	+	Silent	SNP	C	C	T			TCGA-HT-7620-01A-11D-2253-08	TCGA-HT-7620-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e2dba25-2fc2-4f3b-90f0-663e1576a6bf	1f1dbf44-a66f-478b-9efa-9e76ca91f4bc	g.chr12:2968215C>T	ENST00000342628.2	-	10	2108	c.1995G>A	c.(1993-1995)acG>acA	p.T665T	ITFG2_ENST00000545509.1_Intron|FOXM1_ENST00000359843.3_Silent_p.T627T|FOXM1_ENST00000361953.3_Silent_p.T612T	NM_202002.2	NP_973731.1	Q08050	FOXM1_HUMAN	forkhead box M1	627					cell cycle|embryo development|liver development|negative regulation of cell aging|negative regulation of stress-activated MAPK cascade|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|positive regulation of cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of cell growth|regulation of cell proliferation|regulation of oxygen and reactive oxygen species metabolic process|regulation of Ras protein signal transduction|regulation of reactive oxygen species metabolic process|regulation of sequence-specific DNA binding transcription factor activity|tissue development|transcription from RNA polymerase II promoter|vasculogenesis	cytoplasm|transcription factor complex	DNA bending activity|DNA binding|double-stranded DNA binding|promoter binding|protein binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|transcription factor binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(3)	24			OV - Ovarian serous cystadenocarcinoma(31;0.000622)			TGGCTGGGGGCGTGAGCCTCC	0.592													18	83					0	0	1	0	0	T	2968215	C	T	2968215	2	4	258	1	0	0	0	0	0	0	0	1	6052	755	27	1		1	FOXM1	12	2968215	Silent	SNP	C	TCGA-HT-7620-01A-11D-2253-08		2968215	130883680	16	27400											
USP30	84749	broad.mit.edu	37	12	109519737	109519737	+	Splice_Site	SNP	G	G	A			TCGA-HT-7620-01A-11D-2253-08	TCGA-HT-7620-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e2dba25-2fc2-4f3b-90f0-663e1576a6bf	1f1dbf44-a66f-478b-9efa-9e76ca91f4bc	g.chr12:109519737G>A	ENST00000257548.5	+	9	873		c.e9-1		USP30_ENST00000392784.2_Splice_Site	NM_032663.3	NP_116052.2	Q70CQ3	UBP30_HUMAN	ubiquitin specific peptidase 30						ubiquitin-dependent protein catabolic process	integral to membrane|mitochondrial outer membrane	cysteine-type peptidase activity|ubiquitin thiolesterase activity			endometrium(7)|kidney(1)|large_intestine(1)|liver(2)|lung(11)|prostate(1)|skin(3)|stomach(2)	28						TCATGCTGTAGGGTCACCCAT	0.428													25	109					0	0	1	0	0	A	109519737	G	A	109519737	5	1	258	1	0	0	0	0	0	0	1	0	17121	1014	35	2	814	2	USP30	12	109519737	Splice_Site	SNP	G	TCGA-HT-7620-01A-11D-2253-08	106551522	109519737	24332158	17	27401											
CYP1A2	1544	broad.mit.edu	37	15	75042314	75042314	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7620-01A-11D-2253-08	TCGA-HT-7620-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e2dba25-2fc2-4f3b-90f0-663e1576a6bf	1f1dbf44-a66f-478b-9efa-9e76ca91f4bc	g.chr15:75042314C>T	ENST00000343932.4	+	2	298	c.235C>T	c.(235-237)Cgc>Tgc	p.R79C		NM_000761.3	NP_000752.2	P05177	CP1A2_HUMAN	cytochrome P450, family 1, subfamily A, polypeptide 2	79				R -> S (in Ref. 2; AAA35738).	alkaloid metabolic process|exogenous drug catabolic process|methylation|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative deethylation|oxidative demethylation|steroid catabolic process|toxin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|demethylase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33					Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Aciclovir(DB00787)|Alosetron(DB00969)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Anagrelide(DB00261)|Azelastine(DB00972)|Bortezomib(DB00188)|Caffeine(DB00201)|Carmustine(DB00262)|Chlordiazepoxide(DB00475)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Ciprofloxacin(DB00537)|Clomipramine(DB01242)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Desloratadine(DB00967)|Diazepam(DB00829)|Dibucaine(DB00527)|Diclofenac(DB00586)|Duloxetine(DB00476)|Enoxacin(DB00467)|Esomeprazole(DB00736)|Estradiol(DB00783)|Estrone(DB00655)|Fluorouracil(DB00544)|Flutamide(DB00499)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Grepafloxacin(DB00365)|Haloperidol(DB00502)|Hesperetin(DB01094)|Imipramine(DB00458)|Ketoconazole(DB01026)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Melatonin(DB01065)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mirtazapine(DB00370)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pefloxacin(DB00487)|Pimozide(DB01100)|Propafenone(DB01182)|Propranolol(DB00571)|Quinidine(DB00908)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifampin(DB01045)|Riluzole(DB00740)|Rofecoxib(DB00533)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Tacrine(DB00382)|Telithromycin(DB00976)|Terfenadine(DB00342)|Theophylline(DB00277)|Thiabendazole(DB00730)|Tizanidine(DB00697)|Tolbutamide(DB01124)|Verapamil(DB00661)|Warfarin(DB00682)|Zileuton(DB00744)|Zolmitriptan(DB00315)	CCTGCAGATCCGCATTGGCTC	0.672													12	32					0	0	1	0	0	T	75042314	C	T	75042314	3	4	258	1	0	0	0	0	1	0	0	0	4173	652	23	1	237	1	CYP1A2	15	75042314	Missense_Mutation	SNP	C	TCGA-HT-7620-01A-11D-2253-08		75042314	27489078	18	27402											
USP31	57478	broad.mit.edu	37	16	23080559	23080559	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7620-01A-11D-2253-08	TCGA-HT-7620-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e2dba25-2fc2-4f3b-90f0-663e1576a6bf	1f1dbf44-a66f-478b-9efa-9e76ca91f4bc	g.chr16:23080559C>T	ENST00000219689.7	-	16	2866	c.2867G>A	c.(2866-2868)cGc>cAc	p.R956H	USP31_ENST00000567975.1_Missense_Mutation_p.R249H	NM_020718.3	NP_065769.3	Q70CQ4	UBP31_HUMAN	ubiquitin specific peptidase 31	956	Ser-rich.				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57				GBM - Glioblastoma multiforme(48;0.0187)		GTTCAATCTGCGGGTGTCCGA	0.552													12	113					0	0	1	0	0	T	23080559	C	T	23080559	3	4	258	1	0	0	0	0	1	0	0	0	17122	768	27	1	1195	1	USP31	16	23080559	Missense_Mutation	SNP	C	TCGA-HT-7620-01A-11D-2253-08		23080559	67274194	19	27403											
PRSS54	221191	broad.mit.edu	37	16	58324928	58324928	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-7620-01A-11D-2253-08	TCGA-HT-7620-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e2dba25-2fc2-4f3b-90f0-663e1576a6bf	1f1dbf44-a66f-478b-9efa-9e76ca91f4bc	g.chr16:58324928G>T	ENST00000219301.4	-	4	592	c.198C>A	c.(196-198)caC>caA	p.H66Q	PRSS54_ENST00000543437.1_Intron|PRSS54_ENST00000567164.1_Missense_Mutation_p.H66Q	NM_001080492.1	NP_001073961.1	Q6PEW0	PRS54_HUMAN	protease, serine, 54	66	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						CGAAAGCCAGGTGTGTGTACT	0.607													12	59					1.02788e-11	1.09018e-11	1	1	0	T	58324928	G	T	58324928	3	4	258	1	0	0	0	0	1	0	0	0	12682	1252	44	5	1005	5	PRSS54	16	58324928	Missense_Mutation	SNP	G	TCGA-HT-7620-01A-11D-2253-08	35244369	58324928	32029825	20	27404											
YBX2	51087	broad.mit.edu	37	17	7197580	7197581	+	Frame_Shift_Ins	INS	-	-	G			TCGA-HT-7620-01A-11D-2253-08	TCGA-HT-7620-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e2dba25-2fc2-4f3b-90f0-663e1576a6bf	1f1dbf44-a66f-478b-9efa-9e76ca91f4bc	g.chr17:7197580_7197581insG	ENST00000007699.5	-	1	302_303	c.239_240insC	c.(238-240)ccgfs	p.P80fs	YBX2_ENST00000570627.1_Intron	NM_015982.3	NP_057066.2	Q9Y2T7	YBOX2_HUMAN	Y box binding protein 2	80					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter|translational attenuation	cytoplasm|nucleus	DNA binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|skin(3)	12						GACTCCGGGCCGGGGGGGCGGG	0.802													2	4	---	---	---	---						G	7197581	-	G	7197580	7	5	258	1	0	1	1	0	0	0	0	0	17530	639	23	0	886	0	YBX2	17	7197580	Frame_Shift_Ins	INS	-	TCGA-HT-7620-01A-11D-2253-08		7197580	73997630	21	27405											
ZNF709	163051	broad.mit.edu	37	19	12575498	12575498	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7620-01A-11D-2253-08	TCGA-HT-7620-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e2dba25-2fc2-4f3b-90f0-663e1576a6bf	1f1dbf44-a66f-478b-9efa-9e76ca91f4bc	g.chr19:12575498G>A	ENST00000397732.3	-	4	1409	c.1238C>T	c.(1237-1239)aCt>aTt	p.T413I	CTD-3105H18.18_ENST00000598753.1_Intron|ZNF709_ENST00000428311.1_Missense_Mutation_p.T413I	NM_152601.3	NP_689814.1	Q8N972	ZN709_HUMAN	zinc finger protein 709	413					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.T413I(2)		large_intestine(3)|upper_aerodigestive_tract(3)	6						TCCAGTGTGAGTTCTTTCATG	0.418													4	57					0	0	1	0	0	A	12575498	G	A	12575498	3	1	258	1	0	0	0	0	1	0	0	0	18169	1029	36	2	691	2	ZNF709	19	12575498	Missense_Mutation	SNP	G	TCGA-HT-7620-01A-11D-2253-08		12575498	46553485	22	27406											
ZSCAN5B	342933	broad.mit.edu	37	19	56704396	56704396	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HT-7620-01A-11D-2253-08	TCGA-HT-7620-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e2dba25-2fc2-4f3b-90f0-663e1576a6bf	1f1dbf44-a66f-478b-9efa-9e76ca91f4bc	g.chr19:56704396C>T	ENST00000586855.2	-	2	339	c.26G>A	c.(25-27)tGg>tAg	p.W9*	ZSCAN5B_ENST00000358992.3_Nonsense_Mutation_p.W9*			A6NJL1	ZSA5B_HUMAN	zinc finger and SCAN domain containing 5B	9					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						TCCCTGACCCCATGAGAGTGT	0.502													2	2					0	0	1	0	0	T	56704396	C	T	56704396	4	4	258	1	0	0	0	0	0	1	0	0	18279	595	21	2	1477	2	ZSCAN5B	19	56704396	Nonsense_Mutation	SNP	C	TCGA-HT-7620-01A-11D-2253-08	44128898	56704396	2424587	23	27407											
DHX35	60625	broad.mit.edu	37	20	37634881	37634881	+	Silent	SNP	C	C	T			TCGA-HT-7620-01A-11D-2253-08	TCGA-HT-7620-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e2dba25-2fc2-4f3b-90f0-663e1576a6bf	1f1dbf44-a66f-478b-9efa-9e76ca91f4bc	g.chr20:37634881C>T	ENST00000252011.3	+	12	1137	c.1104C>T	c.(1102-1104)taC>taT	p.Y368Y	DHX35_ENST00000373323.4_Silent_p.Y337Y|DHX35_ENST00000373325.2_Silent_p.Y368Y	NM_021931.3	NP_068750.2	Q9H5Z1	DHX35_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 35	368	Helicase C-terminal.					catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	40		Myeloproliferative disorder(115;0.00878)				TCCGAGCCTACAATCCCAGGA	0.522													60	239					0	0	1	0	0	T	37634881	C	T	37634881	2	4	258	1	0	0	0	0	0	0	0	1	4536	489	17	2		2	DHX35	20	37634881	Silent	SNP	C	TCGA-HT-7620-01A-11D-2253-08		37634881	25390639	24	27408											
CLIC2	1193	broad.mit.edu	37	X	154508571	154508571	+	Nonsense_Mutation	SNP	A	A	C			TCGA-HT-7620-01A-11D-2253-08	TCGA-HT-7620-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e2dba25-2fc2-4f3b-90f0-663e1576a6bf	1f1dbf44-a66f-478b-9efa-9e76ca91f4bc	g.chrX:154508571A>C	ENST00000369449.2	-	5	667	c.449T>G	c.(448-450)tTa>tGa	p.L150*	CLIC2_ENST00000465553.1_5'UTR	NM_001289.4	NP_001280.3	O15247	CLIC2_HUMAN	chloride intracellular channel 2	150	C-terminal.|GST C-terminal.				signal transduction	chloride channel complex|cytoplasm|nucleus	voltage-gated chloride channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)	18	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					TGGGGTGTTTAAGTAGTCATC	0.408													16	14					0	0	1	0	0	C	154508571	A	C	154508571	4	2	258	1	0	0	0	0	0	1	0	0	3549	372	13	5	302	5	CLIC2	23	154508571	Nonsense_Mutation	SNP	A	TCGA-HT-7620-01A-11D-2253-08		154508571	761989	25	27409											
PAPPA2	60676	broad.mit.edu	37	1	176734861	176734861	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7676-01A-11D-2395-08	TCGA-HT-7676-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7e2e119-549c-4b01-9587-b0227f5b0d55	f0d2df47-aeac-49c2-a537-641c574a3d9e	g.chr1:176734861C>T	ENST00000367662.3	+	15	5375	c.4211C>T	c.(4210-4212)gCt>gTt	p.A1404V		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1404	Sushi 1.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						CTTGATCATGCTGATGTGGTG	0.507													17	116					0	0	1	0	0	T	176734861	C	T	176734861	3	4	259	1	0	0	0	0	1	0	0	0	11480	797	28	2	4318	2	PAPPA2	1	176734861	Missense_Mutation	SNP	C	TCGA-HT-7676-01A-11D-2395-08		176734861	72515760	1	27410											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-HT-7676-01A-11D-2395-08	TCGA-HT-7676-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7e2e119-549c-4b01-9587-b0227f5b0d55	f0d2df47-aeac-49c2-a537-641c574a3d9e	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	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								28	41					0	0	1	0	0	T	209113112	C	T	209113112	3	4	259	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HT-7676-01A-11D-2395-08		209113112	34086261	2	27411											
C3orf30	152405	broad.mit.edu	37	3	118870094	118870094	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HT-7676-01A-11D-2395-08	TCGA-HT-7676-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7e2e119-549c-4b01-9587-b0227f5b0d55	f0d2df47-aeac-49c2-a537-641c574a3d9e	g.chr3:118870094delT	ENST00000295622.1	+	3	1606	c.1566delT	c.(1564-1566)tatfs	p.Y522fs	RP11-484M3.5_ENST00000490594.1_Intron	NM_152539.2	NP_689752.2	Q96M34	CC030_HUMAN	chromosome 3 open reading frame 30	522										NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(20)|ovary(2)|prostate(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(114;0.222)		ACTTAGTCTATGAAAAGCCAG	0.358													12	274	---	---	---	---						-	118870094	T	-	118870094	7	5	259	1	0	1	0	1	0	0	0	0	2234	1471	51	0	1576	0	C3orf30	3	118870094	Frame_Shift_Del	DEL	T	TCGA-HT-7676-01A-11D-2395-08		118870094	79152336	3	27412											
ETV5	2119	broad.mit.edu	37	3	185769871	185769871	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7676-01A-11D-2395-08	TCGA-HT-7676-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7e2e119-549c-4b01-9587-b0227f5b0d55	f0d2df47-aeac-49c2-a537-641c574a3d9e	g.chr3:185769871T>C	ENST00000306376.5	-	12	1505	c.1259A>G	c.(1258-1260)gAc>gGc	p.D420G	ETV5_ENST00000434744.1_Missense_Mutation_p.D420G|ETV5_ENST00000537818.1_Missense_Mutation_p.D462G|ETV5_ENST00000480706.1_5'UTR	NM_004454.2	NP_004445.1	P41161	ETV5_HUMAN	ets variant 5	420					cellular response to oxidative stress	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(2)|cervix(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	28	all_cancers(143;4.06e-12)|Ovarian(172;0.0386)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.62e-24)			GCTCAGCTTGTCATAGTTCAT	0.522			T	"TMPRSS2, SCL45A3"	Prostate								13	110					0	0	1	0	0	C	185769871	T	C	185769871	3	2	259	1	0	0	0	0	1	0	0	0	5310	1667	58	3	281	3	ETV5	3	185769871	Missense_Mutation	SNP	T	TCGA-HT-7676-01A-11D-2395-08	66899777	185769871	12252559	4	27413											
AHRR	57491	broad.mit.edu	37	5	423984	423984	+	Silent	SNP	C	C	G			TCGA-HT-7676-01A-11D-2395-08	TCGA-HT-7676-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7e2e119-549c-4b01-9587-b0227f5b0d55	f0d2df47-aeac-49c2-a537-641c574a3d9e	g.chr5:423984C>G	ENST00000316418.5	+	7	656	c.612C>G	c.(610-612)ctC>ctG	p.L204L	AHRR_ENST00000512529.1_Silent_p.L50L|AHRR_ENST00000505113.1_Silent_p.L204L|AHRR_ENST00000506456.1_Silent_p.L60L	NM_020731.4	NP_065782.2	A9YTQ3	AHRR_HUMAN	aryl-hydrocarbon receptor repressor	204					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1)	20			Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)			GGAGGCTGCTCAGGGCCCAGG	0.652													46	47					0	0	1	0	0	G	423984	C	G	423984	2	3	259	1	0	0	0	0	0	0	0	1	414	813	29	5		5	AHRR	5	423984	Silent	SNP	C	TCGA-HT-7676-01A-11D-2395-08		423984	180491276	5	27414											
KIAA1009	22832	broad.mit.edu	37	6	84896080	84896080	+	Silent	SNP	T	T	C			TCGA-HT-7676-01A-11D-2395-08	TCGA-HT-7676-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7e2e119-549c-4b01-9587-b0227f5b0d55	f0d2df47-aeac-49c2-a537-641c574a3d9e	g.chr6:84896080T>C	ENST00000403245.3	-	12	1485	c.1371A>G	c.(1369-1371)tcA>tcG	p.S457S	KIAA1009_ENST00000461137.1_5'UTR|KIAA1009_ENST00000257766.4_Silent_p.S381S	NM_014895.2	NP_055710.2	Q5TB80	QN1_HUMAN	KIAA1009	457					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)		GAGATAATGATGAAGAATTAA	0.279													18	34					0	0	1	0	0	C	84896080	T	C	84896080	2	2	259	1	0	0	0	0	0	0	0	1	8245	1451	51	3		3	KIAA1009	6	84896080	Silent	SNP	T	TCGA-HT-7676-01A-11D-2395-08		84896080	86218987	6	27415											
ZDHHC14	79683	broad.mit.edu	37	6	158014166	158014166	+	Missense_Mutation	SNP	G	G	C			TCGA-HT-7676-01A-11D-2395-08	TCGA-HT-7676-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7e2e119-549c-4b01-9587-b0227f5b0d55	f0d2df47-aeac-49c2-a537-641c574a3d9e	g.chr6:158014166G>C	ENST00000359775.5	+	3	1442	c.553G>C	c.(553-555)Gat>Cat	p.D185H	ZDHHC14_ENST00000341375.8_3'UTR|ZDHHC14_ENST00000414563.2_Missense_Mutation_p.D185H			Q8IZN3	ZDH14_HUMAN	zinc finger, DHHC-type containing 14	185						integral to membrane	acyltransferase activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1)	17		Breast(66;0.00586)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;2.9e-17)|BRCA - Breast invasive adenocarcinoma(81;5.8e-05)		CAGCCTTTGTGATAACTGCGT	0.582													4	84					0	0	1	0	0	C	158014166	G	C	158014166	3	2	259	1	0	0	0	0	1	0	0	0	17662	1290	45	5	563	5	ZDHHC14	6	158014166	Missense_Mutation	SNP	G	TCGA-HT-7676-01A-11D-2395-08	73118086	158014166	13100901	7	27416											
ZNF704	619279	broad.mit.edu	37	8	81577128	81577128	+	Silent	SNP	C	C	T			TCGA-HT-7676-01A-11D-2395-08	TCGA-HT-7676-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7e2e119-549c-4b01-9587-b0227f5b0d55	f0d2df47-aeac-49c2-a537-641c574a3d9e	g.chr8:81577128C>T	ENST00000327835.3	-	6	1080	c.849G>A	c.(847-849)acG>acA	p.T283T		NM_001033723.2	NP_001028895.1	Q6ZNC4	ZN704_HUMAN	zinc finger protein 704	283						intracellular	zinc ion binding	p.T283T(1)		lung(9)|skin(1)|upper_aerodigestive_tract(1)	11	all_cancers(3;8.53e-08)|all_epithelial(4;4.59e-10)|Breast(3;2.56e-06)|Lung NSC(7;2.58e-06)|all_lung(9;9.4e-06)		BRCA - Breast invasive adenocarcinoma(6;0.00401)|Epithelial(68;0.00448)|all cancers(69;0.0277)			ACTTAGTCTCCGTTTTGGCAC	0.577													52	80					0	0	1	0	0	T	81577128	C	T	81577128	2	4	259	1	0	0	0	0	0	0	0	1	18163	639	23	1		1	ZNF704	8	81577128	Silent	SNP	C	TCGA-HT-7676-01A-11D-2395-08		81577128	64786894	8	27417											
FER1L6	654463	broad.mit.edu	37	8	125113341	125113341	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-7676-01A-11D-2395-08	TCGA-HT-7676-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7e2e119-549c-4b01-9587-b0227f5b0d55	f0d2df47-aeac-49c2-a537-641c574a3d9e	g.chr8:125113341G>T	ENST00000522917.1	+	38	5093	c.4887G>T	c.(4885-4887)tgG>tgT	p.W1629C	FER1L6_ENST00000399018.1_Missense_Mutation_p.W1629C|FER1L6-AS2_ENST00000520031.1_RNA	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	1629	C2 6.					integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			TTTTTAGGTGGTTAAAGGGCT	0.408													21	36					2.27731e-05	2.27731e-05	1	1	0	T	125113341	G	T	125113341	3	4	259	1	0	0	0	0	1	0	0	0	5848	1270	44	5	5033	5	FER1L6	8	125113341	Missense_Mutation	SNP	G	TCGA-HT-7676-01A-11D-2395-08	43536213	125113341	21250681	9	27418											
OR13A1	79290	broad.mit.edu	37	10	45799361	45799361	+	Silent	SNP	G	G	A			TCGA-HT-7676-01A-11D-2395-08	TCGA-HT-7676-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7e2e119-549c-4b01-9587-b0227f5b0d55	f0d2df47-aeac-49c2-a537-641c574a3d9e	g.chr10:45799361G>A	ENST00000553795.1	-	4	818	c.510C>T	c.(508-510)tgC>tgT	p.C170C	OR13A1_ENST00000374401.2_Silent_p.C170C|OR13A1_ENST00000536058.1_Silent_p.C170C	NM_001004297.2	NP_001004297.2	Q8NGR1	O13A1_HUMAN	olfactory receptor, family 13, subfamily A, member 1	170					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2)|urinary_tract(1)	19						TGTTGACGGCGCAGAGCAGCC	0.607													35	52					0	0	1	0	0	A	45799361	G	A	45799361	2	1	259	1	0	0	0	0	0	0	0	1	10981	1079	38	1		1	OR13A1	10	45799361	Silent	SNP	G	TCGA-HT-7676-01A-11D-2395-08		45799361	89735386	10	27419											
FOXR1	283150	broad.mit.edu	37	11	118851213	118851213	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7676-01A-11D-2395-08	TCGA-HT-7676-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7e2e119-549c-4b01-9587-b0227f5b0d55	f0d2df47-aeac-49c2-a537-641c574a3d9e	g.chr11:118851213T>C	ENST00000317011.3	+	5	850	c.625T>C	c.(625-627)Ttt>Ctt	p.F209L		NM_181721.2	NP_859072.1	Q6PIV2	FOXR1_HUMAN	forkhead box R1	209					embryo development|organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.62e-05)		GCACTTCCCCTTTTTCCGGAC	0.562													5	157					0	0	1	0	0	C	118851213	T	C	118851213	3	2	259	1	0	0	0	0	1	0	0	0	6065	1609	56	3	643	3	FOXR1	11	118851213	Missense_Mutation	SNP	T	TCGA-HT-7676-01A-11D-2395-08		118851213	16155303	11	27420											
ROBO3	64221	broad.mit.edu	37	11	124745490	124745491	+	Frame_Shift_Ins	INS	-	-	G	rs140619532	by1000genomes	TCGA-HT-7676-01A-11D-2395-08	TCGA-HT-7676-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7e2e119-549c-4b01-9587-b0227f5b0d55	f0d2df47-aeac-49c2-a537-641c574a3d9e	g.chr11:124745490_124745491insG	ENST00000397801.1	+	15	2522_2523	c.2330_2331insG	c.(2329-2334)gtggccfs	p.A778fs	ROBO3_ENST00000538940.1_Frame_Shift_Ins_p.A756fs	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3 (Drosophila)	778	Fibronectin type-III 3.				axon midline choice point recognition	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)		GGAGTGGCGGTGGCCTTGGGGG	0.604													8	65	---	---	---	---						G	124745491	-	G	124745490	7	5	259	1	0	1	1	0	0	0	0	0	13567	1696	59	0	2388	0	ROBO3	11	124745490	Frame_Shift_Ins	INS	-	TCGA-HT-7676-01A-11D-2395-08	5894277	124745490	10261026	12	27421											
DDX51	317781	broad.mit.edu	37	12	132624720	132624720	+	Silent	SNP	C	C	T			TCGA-HT-7676-01A-11D-2395-08	TCGA-HT-7676-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7e2e119-549c-4b01-9587-b0227f5b0d55	f0d2df47-aeac-49c2-a537-641c574a3d9e	g.chr12:132624720C>T	ENST00000397333.3	-	12	1736	c.1698G>A	c.(1696-1698)gcG>gcA	p.A566A		NM_175066.3	NP_778236.2	Q8N8A6	DDX51_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 51	566	Helicase C-terminal.				rRNA processing	nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			endometrium(1)|lung(5)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	10	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.241)		OV - Ovarian serous cystadenocarcinoma(86;7.59e-08)|Epithelial(86;3.62e-07)|all cancers(50;2.13e-05)		CGATGCCTCGCGCGGTGGCGT	0.711													34	62					0	0	1	0	0	T	132624720	C	T	132624720	2	4	259	1	0	0	0	0	0	0	0	1	4392	755	27	1		1	DDX51	12	132624720	Silent	SNP	C	TCGA-HT-7676-01A-11D-2395-08		132624720	1227175	13	27422											
GOLGA3	2802	broad.mit.edu	37	12	133353247	133353247	+	Silent	SNP	T	T	C			TCGA-HT-7676-01A-11D-2395-08	TCGA-HT-7676-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7e2e119-549c-4b01-9587-b0227f5b0d55	f0d2df47-aeac-49c2-a537-641c574a3d9e	g.chr12:133353247T>C	ENST00000204726.3	-	21	4509	c.3951A>G	c.(3949-3951)gaA>gaG	p.E1317E	GOLGA3_ENST00000450791.2_Silent_p.E1317E|GOLGA3_ENST00000456883.2_Silent_p.E1317E	NM_005895.3	NP_005886.2	Q08378	GOGA3_HUMAN	golgin A3	1317	Gln-rich.				intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity			breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		GCCCTTCCAGTTCCTTCCTGC	0.567													4	158					0	0	1	0	0	C	133353247	T	C	133353247	2	2	259	1	0	0	0	0	0	0	0	1	6596	1722	60	3		3	GOLGA3	12	133353247	Silent	SNP	T	TCGA-HT-7676-01A-11D-2395-08	728527	133353247	498648	14	27423											
TPP2	7174	broad.mit.edu	37	13	103328687	103328687	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7676-01A-11D-2395-08	TCGA-HT-7676-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7e2e119-549c-4b01-9587-b0227f5b0d55	f0d2df47-aeac-49c2-a537-641c574a3d9e	g.chr13:103328687G>A	ENST00000376052.3	+	29	3637	c.3621G>A	c.(3619-3621)atG>atA	p.M1207I	TPP2_ENST00000376065.4_Missense_Mutation_p.M1194I|TPP2_ENST00000466153.1_3'UTR			P29144	TPP2_HUMAN	tripeptidyl peptidase II	1194					proteolysis	cytoplasm|nucleus	aminopeptidase activity|serine-type endopeptidase activity|tripeptidyl-peptidase activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	52	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TAAATAAAATGTATGGGAGAG	0.264													4	26					0	0	1	0	0	A	103328687	G	A	103328687	3	1	259	1	0	0	0	0	1	0	0	0	16473	1377	48	2	3692	2	TPP2	13	103328687	Missense_Mutation	SNP	G	TCGA-HT-7676-01A-11D-2395-08		103328687	11841191	15	27424											
PLCB2	5330	broad.mit.edu	37	15	40587142	40587142	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7676-01A-11D-2395-08	TCGA-HT-7676-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7e2e119-549c-4b01-9587-b0227f5b0d55	f0d2df47-aeac-49c2-a537-641c574a3d9e	g.chr15:40587142G>A	ENST00000260402.3	-	18	2150	c.1901C>T	c.(1900-1902)aCg>aTg	p.T634M	PLCB2_ENST00000456256.2_Missense_Mutation_p.T634M|PLCB2_ENST00000557821.1_Missense_Mutation_p.T630M	NM_001284297.1|NM_004573.2	NP_001271226.1|NP_004564.2	Q00722	PLCB2_HUMAN	phospholipase C, beta 2	634	PI-PLC Y-box.				activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)		CTCACCCATCGTCTGGAAGTT	0.582													37	54					0	0	1	0	0	A	40587142	G	A	40587142	3	1	259	1	0	0	0	0	1	0	0	0	12076	1145	40	1	1716	1	PLCB2	15	40587142	Missense_Mutation	SNP	G	TCGA-HT-7676-01A-11D-2395-08		40587142	61944250	16	27425											
SNX33	257364	broad.mit.edu	37	15	75942786	75942786	+	Missense_Mutation	SNP	G	G	A	rs139396216	byFrequency	TCGA-HT-7676-01A-11D-2395-08	TCGA-HT-7676-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7e2e119-549c-4b01-9587-b0227f5b0d55	f0d2df47-aeac-49c2-a537-641c574a3d9e	g.chr15:75942786G>A	ENST00000308527.5	+	1	2540	c.1343G>A	c.(1342-1344)cGt>cAt	p.R448H		NM_153271.1	NP_695003.1	Q8WV41	SNX33_HUMAN	sorting nexin 33	448	BAR.				cell communication		phosphatidylinositol binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|soft_tissue(1)|urinary_tract(2)	19						CACACGGGCCGTACCTATGAA	0.567													4	161					0	0	1	0	0	A	75942786	G	A	75942786	3	1	259	1	0	0	0	0	1	0	0	0	14957	1145	40	1	1345	1	SNX33	15	75942786	Missense_Mutation	SNP	G	TCGA-HT-7676-01A-11D-2395-08	35355644	75942786	26588606	17	27426											
SEMA4B	10509	broad.mit.edu	37	15	90768923	90768923	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7676-01A-11D-2395-08	TCGA-HT-7676-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7e2e119-549c-4b01-9587-b0227f5b0d55	f0d2df47-aeac-49c2-a537-641c574a3d9e	g.chr15:90768923G>A	ENST00000411539.2	+	12	1812	c.1552G>A	c.(1552-1554)Gta>Ata	p.V518I	SEMA4B_ENST00000332496.6_Missense_Mutation_p.V518I|SEMA4B_ENST00000379122.3_Missense_Mutation_p.V513I	NM_198925.2	NP_945119.1			sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4B											NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)	12	Melanoma(11;0.00551)|Lung NSC(78;0.0125)|all_lung(78;0.0272)		BRCA - Breast invasive adenocarcinoma(143;0.0107)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.217)			ACACTCGGGCGTAGTCCAGGT	0.672													4	5					0	0	1	0	0	A	90768923	G	A	90768923	3	1	259	1	0	0	0	0	1	0	0	0	14086	1145	40	1	1598	1	SEMA4B	15	90768923	Missense_Mutation	SNP	G	TCGA-HT-7676-01A-11D-2395-08	14826137	90768923	11762469	18	27427											
TP53	7157	broad.mit.edu	37	17	7578394	7578394	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7676-01A-11D-2395-08	TCGA-HT-7676-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7e2e119-549c-4b01-9587-b0227f5b0d55	f0d2df47-aeac-49c2-a537-641c574a3d9e	g.chr17:7578394T>C	ENST00000420246.2	-	5	668	c.536A>G	c.(535-537)cAt>cGt	p.H179R	TP53_ENST00000413465.2_Missense_Mutation_p.H179R|TP53_ENST00000359597.4_Missense_Mutation_p.H179R|TP53_ENST00000455263.2_Missense_Mutation_p.H179R|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000445888.2_Missense_Mutation_p.H179R|TP53_ENST00000269305.4_Missense_Mutation_p.H179R	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	179	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).|HH -> QS (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.H179R(108)|p.H179L(43)|p.P177_C182delPHHERC(8)|p.0?(8)|p.H47L(4)|p.H86L(4)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H179P(3)|p.H178_S183delHHERCS(3)|p.R175_E180delRCPHHE(3)|p.P177fs*3(2)|p.V173fs*59(2)|p.H86R(2)|p.H47R(2)|p.R174fs*1(2)|p.H179fs*68(1)|p.C176fs*65(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H46_S51delHHERCS(1)|p.H178fs*6(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.H85_S90delHHERCS(1)|p.E171fs*1(1)|p.R174fs*3(1)|p.E171fs*61(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)		GCAGCGCTCATGGTGGGGGCA	0.642		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)			54	11					0	0	1	0	0	C	7578394	T	C	7578394	3	2	259	1	0	0	0	0	1	0	0	0	16442	1464	51	3	762	3	TP53	17	7578394	Missense_Mutation	SNP	T	TCGA-HT-7676-01A-11D-2395-08		7578394	73616816	19	27428											
KRT20	54474	broad.mit.edu	37	17	39041356	39041356	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7676-01A-11D-2395-08	TCGA-HT-7676-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7e2e119-549c-4b01-9587-b0227f5b0d55	f0d2df47-aeac-49c2-a537-641c574a3d9e	g.chr17:39041356G>A	ENST00000167588.3	-	1	123	c.82C>T	c.(82-84)Cgc>Tgc	p.R28C		NM_019010.2	NP_061883.1	P35900	K1C20_HUMAN	keratin 20	28	Head.				apoptosis|intermediate filament organization	Golgi apparatus|intermediate filament	protein binding|structural constituent of cytoskeleton			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(1)	14		Breast(137;0.000301)|Ovarian(249;0.15)				GTCCCGAGGCGCTGCATGCCC	0.597													25	33					0	0	1	0	0	A	39041356	G	A	39041356	3	1	259	1	0	0	0	0	1	0	0	0	8501	1087	38	1	1224	1	KRT20	17	39041356	Missense_Mutation	SNP	G	TCGA-HT-7676-01A-11D-2395-08	31462962	39041356	42153854	20	27429											
ZADH2	284273	broad.mit.edu	37	18	72913406	72913406	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7676-01A-11D-2395-08	TCGA-HT-7676-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7e2e119-549c-4b01-9587-b0227f5b0d55	f0d2df47-aeac-49c2-a537-641c574a3d9e	g.chr18:72913406C>T	ENST00000322342.3	-	2	1388	c.1099G>A	c.(1099-1101)Gtt>Att	p.V367I	ZADH2_ENST00000537114.2_Missense_Mutation_p.V244I	NM_175907.4	NP_787103.1	Q8N4Q0	ZADH2_HUMAN	zinc binding alcohol dehydrogenase domain containing 2	367						peroxisome	oxidoreductase activity|zinc ion binding			endometrium(3)|large_intestine(3)|lung(8)|skin(1)	15		Esophageal squamous(42;0.131)|Prostate(75;0.155)		READ - Rectum adenocarcinoma(2;0.0276)|BRCA - Breast invasive adenocarcinoma(31;0.216)		GGTAATTCAACTACAATTTTT	0.398													22	38					0	0	1	0	0	T	72913406	C	T	72913406	3	4	259	1	0	0	0	0	1	0	0	0	17571	565	20	2	38	2	ZADH2	18	72913406	Missense_Mutation	SNP	C	TCGA-HT-7676-01A-11D-2395-08		72913406	5163842	21	27430											
KCNB1	3745	broad.mit.edu	37	20	48098921	48098921	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7676-01A-11D-2395-08	TCGA-HT-7676-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7e2e119-549c-4b01-9587-b0227f5b0d55	f0d2df47-aeac-49c2-a537-641c574a3d9e	g.chr20:48098921C>T	ENST00000371741.4	-	1	263	c.97G>A	c.(97-99)Gtc>Atc	p.V33I		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	33					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			TTGAGGCGGACCCGCCGAGAG	0.716													2	0					0	0	1	0	0	T	48098921	C	T	48098921	3	4	259	1	0	0	0	0	1	0	0	0	8056	507	18	2	2487	2	KCNB1	20	48098921	Missense_Mutation	SNP	C	TCGA-HT-7676-01A-11D-2395-08		48098921	14926599	22	27431											
ATRX	546	broad.mit.edu	37	X	76855230	76855230	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HT-7676-01A-11D-2395-08	TCGA-HT-7676-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7e2e119-549c-4b01-9587-b0227f5b0d55	f0d2df47-aeac-49c2-a537-641c574a3d9e	g.chrX:76855230delG	ENST00000373344.5	-	24	5971	c.5757delC	c.(5755-5757)tccfs	p.S1919fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.S1881fs	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1919					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)	TTAAACTCATGGAGGTTTCAT	0.338			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						22	8	---	---	---	---						-	76855230	G	-	76855230	7	5	259	1	0	1	0	1	0	0	0	0	1206	1335	47	0	1769	0	ATRX	23	76855230	Frame_Shift_Del	DEL	G	TCGA-HT-7676-01A-11D-2395-08		76855230	78415330	23	27432											
FUBP1	8880	broad.mit.edu	37	1	78430643	78430643	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr1:78430643delC	ENST00000370767.1	-	9	734	c.647delG	c.(646-648)ggafs	p.G216fs	FUBP1_ENST00000370768.2_Frame_Shift_Del_p.G216fs|FUBP1_ENST00000436586.2_Frame_Shift_Del_p.G237fs			Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1	216	KH 2.				transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						CATTTTAACTCCAGCCCGTTC	0.363			"F, N"		oligodendroglioma								44	33	---	---	---	---						-	78430643	C	-	78430643	7	5	260	1	0	1	0	1	0	0	0	0	6127	855	30	0	1335	0	FUBP1	1	78430643	Frame_Shift_Del	DEL	C	TCGA-HT-7677-01A-11D-2253-08		78430643	170819978	1	27433											
F5	2153	broad.mit.edu	37	1	169524423	169524423	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr1:169524423T>C	ENST00000367796.3	-	7	1316	c.1115A>G	c.(1114-1116)gAc>gGc	p.D372G	F5_ENST00000367797.3_Missense_Mutation_p.D372G|F5_ENST00000546081.1_Missense_Mutation_p.D235G			P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	372	F5/8 type A 2.|Plastocyanin-like 3.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	AACTCACTTGTCCATATTCGC	0.468													30	183					0	0	1	0	0	C	169524423	T	C	169524423	3	2	260	1	0	0	0	0	1	0	0	0	5376	1667	58	3	5635	3	F5	1	169524423	Missense_Mutation	SNP	T	TCGA-HT-7677-01A-11D-2253-08	91093780	169524423	79726198	2	27434											
CFHR3	10878	broad.mit.edu	37	1	196749062	196749062	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr1:196749062C>T	ENST00000471440.2	+	3	463	c.389C>T	c.(388-390)aCg>aTg	p.T130M	CFHR3_ENST00000391985.3_Missense_Mutation_p.T130M|CFHR3_ENST00000367425.4_Missense_Mutation_p.T130M					complement factor H-related 3									p.T130M(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	18						GTTACATGTACGGAGAAAGGC	0.473													36	58					0	0	1	0	0	T	196749062	C	T	196749062	3	4	260	1	0	0	0	0	1	0	0	0	3308	536	19	1	399	1	CFHR3	1	196749062	Missense_Mutation	SNP	C	TCGA-HT-7677-01A-11D-2253-08	27224639	196749062	52501559	3	27435											
PPM1B	5495	broad.mit.edu	37	2	44457550	44457550	+	Splice_Site	SNP	A	A	G			TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr2:44457550A>G	ENST00000282412.4	+	6	1546		c.e6-1		PPM1B_ENST00000345249.4_Splice_Site|PPM1B_ENST00000378551.2_Intron|PPM1B_ENST00000409432.3_3'UTR|PPM1B_ENST00000378540.4_Intron	NM_002706.4	NP_002697.1	O75688	PPM1B_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1B						protein dephosphorylation	protein serine/threonine phosphatase complex	magnesium ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity			kidney(4)|large_intestine(3)|lung(7)|skin(2)	16		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				TCTTAAAAAAAGGCCTCCGAT	0.393													3	86					0	0	1	0	0	G	44457550	A	G	44457550	5	3	260	1	0	0	0	0	0	0	1	0	12385	86	3	3	1184	3	PPM1B	2	44457550	Splice_Site	SNP	A	TCGA-HT-7677-01A-11D-2253-08		44457550	198741823	4	27436											
SPTBN1	6711	broad.mit.edu	37	2	54859857	54859857	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr2:54859857A>G	ENST00000333896.5	+	16	4065	c.3680A>G	c.(3679-3681)aAc>aGc	p.N1227S	SPTBN1_ENST00000356805.4_Missense_Mutation_p.N1240S	NM_178313.2	NP_842565.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	1240					actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			AGCGATGGGAACATCAACTCA	0.507													3	51					0	0	1	0	0	G	54859857	A	G	54859857	3	3	260	1	0	0	0	0	1	0	0	0	15175	43	2	3	3894	3	SPTBN1	2	54859857	Missense_Mutation	SNP	A	TCGA-HT-7677-01A-11D-2253-08	10402307	54859857	188339516	5	27437											
SCN3A	6328	broad.mit.edu	37	2	165948831	165948831	+	Silent	SNP	G	G	C			TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr2:165948831G>C	ENST00000360093.3	-	27	5231	c.4740C>G	c.(4738-4740)ctC>ctG	p.L1580L	SCN3A_ENST00000283254.7_Silent_p.L1580L|SCN3A_ENST00000465043.1_5'UTR|SCN3A_ENST00000409101.3_Silent_p.L1531L|SCN3A_ENST00000540861.1_Silent_p.L63L	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	1580						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	AGTAGTGTCTGAGGGAGACGA	0.438													35	54					0	0	1	0	0	C	165948831	G	C	165948831	2	2	260	1	0	0	0	0	0	0	0	1	13972	1277	45	5		5	SCN3A	2	165948831	Silent	SNP	G	TCGA-HT-7677-01A-11D-2253-08	111088974	165948831	77250542	6	27438											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								31	42					0	0	1	0	0	T	209113112	C	T	209113112	3	4	260	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HT-7677-01A-11D-2253-08	43164281	209113112	34086261	7	27439											
ATG9A	79065	broad.mit.edu	37	2	220088460	220088460	+	Silent	SNP	G	G	A			TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr2:220088460G>A	ENST00000409618.1	-	10	1885	c.1446C>T	c.(1444-1446)agC>agT	p.S482S	ATG9A_ENST00000361242.4_Silent_p.S482S|ATG9A_ENST00000409422.1_Silent_p.S421S|ATG9A_ENST00000396761.2_Silent_p.S482S			Q7Z3C6	ATG9A_HUMAN	autophagy related 9A	482					autophagic vacuole assembly|protein transport	autophagic vacuole membrane|cytoplasmic vesicle|Golgi apparatus|integral to membrane|late endosome membrane				endometrium(2)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(1)	13		Renal(207;0.0474)		Epithelial(149;1.37e-06)|all cancers(144;0.000222)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGACAATGGGGCTCAGCAACT	0.577													4	70					0	0	1	0	0	A	220088460	G	A	220088460	2	1	260	1	0	0	0	0	0	0	0	1	1101	1194	42	2		2	ATG9A	2	220088460	Silent	SNP	G	TCGA-HT-7677-01A-11D-2253-08	10975348	220088460	23110913	8	27440											
TRIP12	9320	broad.mit.edu	37	2	230638967	230638968	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr2:230638967_230638968delCT	ENST00000283943.5	-	37	5492_5493	c.5314_5315delAG	c.(5314-5316)agtfs	p.S1772fs	TRIP12_ENST00000389045.3_Frame_Shift_Del_p.S1502fs|TRIP12_ENST00000389044.4_Frame_Shift_Del_p.S1820fs	NM_001284214.1|NM_004238.1	NP_001271143.1|NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	1772					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		ATACTGTAGACTCTCTTTGGTC	0.361													44	64	---	---	---	---						-	230638968	CT	-	230638967	7	5	260	1	0	1	0	1	0	0	0	0	16617	565	20	0	683	0	TRIP12	2	230638967	Frame_Shift_Del	DEL	CT	TCGA-HT-7677-01A-11D-2253-08	10550507	230638967	12560406	9	27441											
FGD5	152273	broad.mit.edu	37	3	14862573	14862573	+	Silent	SNP	G	G	A			TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr3:14862573G>A	ENST00000285046.5	+	1	2105	c.1995G>A	c.(1993-1995)acG>acA	p.T665T	FGD5_ENST00000543601.1_Silent_p.T424T	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	665					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						AGAAGAAGACGGAGAACAAAT	0.512													30	38					0	0	1	0	0	A	14862573	G	A	14862573	2	1	260	1	0	0	0	0	0	0	0	1	5869	1103	39	1		1	FGD5	3	14862573	Silent	SNP	G	TCGA-HT-7677-01A-11D-2253-08		14862573	183159857	10	27442											
XIRP1	165904	broad.mit.edu	37	3	39227360	39227360	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr3:39227360G>A	ENST00000340369.3	-	2	3805	c.3577C>T	c.(3577-3579)Cgg>Tgg	p.R1193W	XIRP1_ENST00000396251.1_Intron|XIRP1_ENST00000421646.1_Intron	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	1193							actin binding	p.R1193W(1)		breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		GGCTCCTCCCGCCCTGGCCCA	0.677													5	39					0	0	1	0	0	A	39227360	G	A	39227360	3	1	260	1	0	0	0	0	1	0	0	0	17489	1086	38	1	1958	1	XIRP1	3	39227360	Missense_Mutation	SNP	G	TCGA-HT-7677-01A-11D-2253-08	24364787	39227360	158795070	11	27443											
TRIML1	339976	broad.mit.edu	37	4	189061052	189061052	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr4:189061052G>A	ENST00000332517.3	+	1	480	c.340G>A	c.(340-342)Gcc>Acc	p.A114T		NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	114					multicellular organismal development		ligase activity|zinc ion binding			NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		GGGTGGAAGCGCCTTCGTAGC	0.622													3	48					0	0	1	0	0	A	189061052	G	A	189061052	3	1	260	1	0	0	0	0	1	0	0	0	16611	1087	38	1	342	1	TRIML1	4	189061052	Missense_Mutation	SNP	G	TCGA-HT-7677-01A-11D-2253-08		189061052	2093224	12	27444											
RARS2	57038	broad.mit.edu	37	6	88229954	88229954	+	Missense_Mutation	SNP	C	C	A			TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr6:88229954C>A	ENST00000369536.5	-	13	1101	c.1056G>T	c.(1054-1056)aaG>aaT	p.K352N		NM_020320.3	NP_064716.2	Q5T160	SYRM_HUMAN	arginyl-tRNA synthetase 2, mitochondrial	352					arginyl-tRNA aminoacylation	mitochondrial matrix	arginine-tRNA ligase activity|ATP binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	22		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0456)		GCTGAAAATGCTTTTTTTGTC	0.328													20	137					3.08376e-08	3.35427e-08	1	1	0	A	88229954	C	A	88229954	3	1	260	1	0	0	0	0	1	0	0	0	13111	796	28	4	712	4	RARS2	6	88229954	Missense_Mutation	SNP	C	TCGA-HT-7677-01A-11D-2253-08		88229954	82885113	13	27445											
FHL5	9457	broad.mit.edu	37	6	97053913	97053913	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr6:97053913A>G	ENST00000326771.2	+	5	850	c.470A>G	c.(469-471)aAg>aGg	p.K157R	FHL5_ENST00000541107.1_Missense_Mutation_p.K157R	NM_020482.4	NP_065228.4	Q5TD97	FHL5_HUMAN	four and a half LIM domains 5	157	LIM zinc-binding 2.					nucleus	zinc ion binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|urinary_tract(1)	27		all_cancers(76;1.57e-07)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00266)|Colorectal(196;0.0341)|Lung NSC(302;0.204)		BRCA - Breast invasive adenocarcinoma(108;0.0948)		TGTTTTGAGAAGGAGTTTGCT	0.383													7	55					0	0	1	0	0	G	97053913	A	G	97053913	3	3	260	1	0	0	0	0	1	0	0	0	5914	72	3	3	480	3	FHL5	6	97053913	Missense_Mutation	SNP	A	TCGA-HT-7677-01A-11D-2253-08	8823959	97053913	74061154	14	27446											
EYA4	2070	broad.mit.edu	37	6	133783471	133783471	+	Splice_Site	SNP	A	A	T			TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr6:133783471A>T	ENST00000367895.5	+	8	901		c.e8-1		EYA4_ENST00000531901.1_Splice_Site|EYA4_ENST00000430974.2_Splice_Site|EYA4_ENST00000452339.2_Splice_Site|EYA4_ENST00000355167.3_Splice_Site|EYA4_ENST00000355286.6_Splice_Site|EYA4_ENST00000525849.1_Splice_Site|EYA4_ENST00000431403.2_Splice_Site	NM_004100.4	NP_004091.3	O95677	EYA4_HUMAN	eyes absent homolog 4 (Drosophila)						anatomical structure morphogenesis|chromatin modification|DNA repair|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1)	48	Colorectal(23;0.221)			GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)		TCTGATATTTAGGCCCTATCC	0.438													24	176					0	0	1	0	0	T	133783471	A	T	133783471	5	4	260	1	0	0	0	0	0	0	1	0	5359	434	15	5	462	5	EYA4	6	133783471	Splice_Site	SNP	A	TCGA-HT-7677-01A-11D-2253-08	36729558	133783471	37331596	15	27447											
ARID1B	57492	broad.mit.edu	37	6	157469999	157469999	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr6:157469999delG	ENST00000346085.5	+	9	2794	c.2793delG	c.(2791-2793)atgfs	p.M931fs	ARID1B_ENST00000350026.5_Frame_Shift_Del_p.M918fs|ARID1B_ENST00000275248.4_Frame_Shift_Del_p.M860fs|ARID1B_ENST00000367148.1_Frame_Shift_Del_p.M918fs|ARID1B_ENST00000478761.2_3'UTR	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	918					chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		GGCCAGGAATGGGGCCGCCAA	0.587													31	62	---	---	---	---						-	157469999	G	-	157469999	7	5	260	1	0	1	0	1	0	0	0	0	911	1348	47	0	2827	0	ARID1B	6	157469999	Frame_Shift_Del	DEL	G	TCGA-HT-7677-01A-11D-2253-08	23686528	157469999	13645068	16	27448											
NPSR1	387129	broad.mit.edu	37	7	34724169	34724169	+	Silent	SNP	G	G	A			TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr7:34724169G>A	ENST00000360581.1	+	2	281	c.153G>A	c.(151-153)gaG>gaA	p.E51E	NPSR1_ENST00000359791.1_Silent_p.E51E|NPSR1_ENST00000381539.3_Silent_p.E51E|NPSR1-AS1_ENST00000419766.1_RNA|NPSR1_ENST00000381542.1_Silent_p.E51E|NPSR1_ENST00000465305.1_Silent_p.E51E|NPSR1_ENST00000531252.1_Silent_p.E51E|NPSR1_ENST00000381553.3_Silent_p.E51E	NM_207172.1	NP_997055.1	Q6W5P4	NPSR1_HUMAN	neuropeptide S receptor 1	51						cytoplasm|integral to membrane|plasma membrane	vasopressin receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7)	31					Halothane(DB01159)	TGCAGACTGAGCAATTGATAA	0.433													34	60					0	0	1	0	0	A	34724169	G	A	34724169	2	1	260	1	0	0	0	0	0	0	0	1	10648	962	34	2		2	NPSR1	7	34724169	Silent	SNP	G	TCGA-HT-7677-01A-11D-2253-08		34724169	124414494	17	27449											
GRB10	2887	broad.mit.edu	37	7	50686874	50686874	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr7:50686874delT	ENST00000403097.1	-	8	1532	c.752delA	c.(751-753)aatfs	p.N251fs	GRB10_ENST00000402497.1_Frame_Shift_Del_p.N199fs|GRB10_ENST00000357271.5_Frame_Shift_Del_p.N257fs|GRB10_ENST00000398812.2_Frame_Shift_Del_p.N257fs|GRB10_ENST00000335866.3_Frame_Shift_Del_p.N199fs|GRB10_ENST00000402578.1_Frame_Shift_Del_p.N199fs|GRB10_ENST00000439599.1_Frame_Shift_Del_p.N251fs|GRB10_ENST00000401949.1_Frame_Shift_Del_p.N257fs|GRB10_ENST00000407526.1_Frame_Shift_Del_p.N199fs|GRB10_ENST00000406641.1_Frame_Shift_Del_p.N199fs|GRB10_ENST00000398810.2_Frame_Shift_Del_p.N199fs			Q13322	GRB10_HUMAN	growth factor receptor-bound protein 10	257					insulin receptor signaling pathway|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway	cytosol|plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity			NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	41	Glioma(55;0.08)|all_neural(89;0.245)					CACCATGGGATTTTTAAAGAA	0.408									Russell-Silver syndrome				20	31	---	---	---	---						-	50686874	T	-	50686874	7	5	260	1	0	1	0	1	0	0	0	0	6797	1493	52	0	1058	0	GRB10	7	50686874	Frame_Shift_Del	DEL	T	TCGA-HT-7677-01A-11D-2253-08	15962705	50686874	108451789	18	27450											
GAL3ST4	79690	broad.mit.edu	37	7	99764196	99764196	+	Missense_Mutation	SNP	G	G	A	rs116867043	byFrequency	TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr7:99764196G>A	ENST00000360039.4	-	3	750	c.358C>T	c.(358-360)Cgc>Tgc	p.R120C	GAL3ST4_ENST00000413800.1_Missense_Mutation_p.R120C|GAL3ST4_ENST00000411994.1_Intron|GAL3ST4_ENST00000423751.1_Intron|GAL3ST4_ENST00000482469.1_5'UTR|GAL3ST4_ENST00000426974.2_Intron	NM_024637.4	NP_078913.3	Q96RP7	G3ST4_HUMAN	galactose-3-O-sulfotransferase 4	120					cell-cell signaling|oligosaccharide metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi cisterna membrane|integral to membrane|membrane fraction	3'-phosphoadenosine 5'-phosphosulfate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(5)|prostate(1)|upper_aerodigestive_tract(1)	26	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CCCTGTGGGCGGTAGCCTTTT	0.612													4	167					0	0	1	0	0	A	99764196	G	A	99764196	3	1	260	1	0	0	0	0	1	0	0	0	6240	1116	39	1	1110	1	GAL3ST4	7	99764196	Missense_Mutation	SNP	G	TCGA-HT-7677-01A-11D-2253-08	49077322	99764196	59374467	19	27451											
FLNC	2318	broad.mit.edu	37	7	128492959	128492959	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr7:128492959C>T	ENST00000325888.8	+	37	6343	c.6082C>T	c.(6082-6084)Ccc>Tcc	p.P2028S	RP11-309L24.2_ENST00000469965.1_RNA|FLNC_ENST00000346177.6_Missense_Mutation_p.P1995S	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	2028					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						CACCAACAGCCCCTTCAAGAT	0.617													7	88					0	0	1	0	0	T	128492959	C	T	128492959	3	4	260	1	0	0	0	0	1	0	0	0	5968	623	22	2	6228	2	FLNC	7	128492959	Missense_Mutation	SNP	C	TCGA-HT-7677-01A-11D-2253-08	28728763	128492959	30645704	20	27452											
PSD3	23362	broad.mit.edu	37	8	18393449	18393449	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr8:18393449T>C	ENST00000440756.2	-	16	3056	c.2954A>G	c.(2953-2955)tAt>tGt	p.Y985C	PSD3_ENST00000523619.1_Missense_Mutation_p.Y918C|PSD3_ENST00000428502.2_Missense_Mutation_p.Y312C|PSD3_ENST00000286485.8_Missense_Mutation_p.Y449C|PSD3_ENST00000327040.8_Missense_Mutation_p.Y983C			Q9NYI0	PSD3_HUMAN	pleckstrin and Sec7 domain containing 3	984					regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		AATGCTGACATACATTTCATA	0.488													3	88					0	0	1	0	0	C	18393449	T	C	18393449	3	2	260	1	0	0	0	0	1	0	0	0	12697	1406	49	3	199	3	PSD3	8	18393449	Missense_Mutation	SNP	T	TCGA-HT-7677-01A-11D-2253-08		18393449	127970573	21	27453											
PRKDC	5591	broad.mit.edu	37	8	48792204	48792204	+	Missense_Mutation	SNP	G	G	C			TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr8:48792204G>C	ENST00000314191.2	-	40	5136	c.5080C>G	c.(5080-5082)Ctt>Gtt	p.L1694V	PRKDC_ENST00000338368.3_Missense_Mutation_p.L1694V|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	1695					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				AATGGAAGAAGAGTGACAGCT	0.463								Non-homologous end-joining					4	17					0	0	1	0	0	C	48792204	G	C	48792204	3	2	260	1	0	0	0	0	1	0	0	0	12573	942	33	4	7495	4	PRKDC	8	48792204	Missense_Mutation	SNP	G	TCGA-HT-7677-01A-11D-2253-08	30398755	48792204	97571818	22	27454											
SOX17	64321	broad.mit.edu	37	8	55372386	55372386	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr8:55372386A>G	ENST00000297316.4	+	2	1280	c.1076A>G	c.(1075-1077)gAc>gGc	p.D359G		NM_022454.3	NP_071899.1	Q9H6I2	SOX17_HUMAN	SRY (sex determining region Y)-box 17	359	Sox C-terminal.				angiogenesis|cardiac cell fate determination|endocardial cell differentiation|endocardium formation|endoderm formation|heart formation|heart looping|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|outflow tract morphogenesis|positive regulation of transcription, DNA-dependent|protein destabilization|protein stabilization|regulation of embryonic development|renal system development|vasculogenesis|Wnt receptor signaling pathway	transcription factor complex	beta-catenin binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription factor binding|transcription regulatory region DNA binding			endometrium(6)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)	18		Lung NSC(129;0.109)|all_epithelial(80;0.176)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;1.9e-07)|Epithelial(17;1.7e-05)|all cancers(17;0.000159)			GGGGAGGTGGACCGCACGGAA	0.692													13	40					0	0	1	0	0	G	55372386	A	G	55372386	3	3	260	1	0	0	0	0	1	0	0	0	15001	275	10	3	1082	3	SOX17	8	55372386	Missense_Mutation	SNP	A	TCGA-HT-7677-01A-11D-2253-08	6580182	55372386	90991636	23	27455											
DMRTA1	63951	broad.mit.edu	37	9	22451627	22451627	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr9:22451627C>T	ENST00000325870.2	+	2	1457	c.1232C>T	c.(1231-1233)cCt>cTt	p.P411L		NM_022160.2	NP_071443.2	Q5VZB9	DMRTA_HUMAN	DMRT-like family A1						cell differentiation|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			breast(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15		all_cancers(5;4.09e-243)|Acute lymphoblastic leukemia(3;8.25e-150)|all_hematologic(3;4.25e-147)|Esophageal squamous(3;2.32e-09)|Renal(3;1.71e-07)|Breast(3;2.07e-06)|Hepatocellular(5;0.00563)		GBM - Glioblastoma multiforme(1;5.12e-278)|Lung(24;8.2e-52)|LUSC - Lung squamous cell carcinoma(38;1.46e-37)|OV - Ovarian serous cystadenocarcinoma(39;0.0517)		GCTTTCTCTCCTCTTCAAACT	0.408													29	69					0	0	1	0	0	T	22451627	C	T	22451627	3	4	260	1	0	0	0	0	1	0	0	0	4616	681	24	2	1238	2	DMRTA1	9	22451627	Missense_Mutation	SNP	C	TCGA-HT-7677-01A-11D-2253-08		22451627	118761804	24	27456											
CYP2C19	1557	broad.mit.edu	37	10	96602618	96602618	+	Missense_Mutation	SNP	G	G	A	rs138142612		TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr10:96602618G>A	ENST00000371321.3	+	7	1068	c.986G>A	c.(985-987)cGt>cAt	p.R329H	CYP2C19_ENST00000464755.1_3'UTR	NM_000769.1	NP_000760	P33261	CP2CJ_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 19	329			R -> H (in allele CYP2C19*18).		exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)	GAGATTGAACGTGTCGTTGGC	0.498													16	134					0	0	1	0	0	A	96602618	G	A	96602618	3	1	260	1	0	0	0	0	1	0	0	0	4189	1145	40	1	1012	1	CYP2C19	10	96602618	Missense_Mutation	SNP	G	TCGA-HT-7677-01A-11D-2253-08		96602618	38932129	25	27457											
DOCK1	1793	broad.mit.edu	37	10	128850979	128850979	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr10:128850979G>A	ENST00000280333.6	+	22	2282	c.2173G>A	c.(2173-2175)Ggt>Agt	p.G725S		NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	725					apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding	p.G725C(1)		NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		CTACGTGGACGGTGCTGAGAA	0.433													3	97					0	0	1	0	0	A	128850979	G	A	128850979	3	1	260	1	0	0	0	0	1	0	0	0	4711	1116	39	1	2259	1	DOCK1	10	128850979	Missense_Mutation	SNP	G	TCGA-HT-7677-01A-11D-2253-08	32248361	128850979	6683768	26	27458											
OR52B6	340980	broad.mit.edu	37	11	5603034	5603034	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr11:5603034G>A	ENST00000345043.2	+	1	928	c.928G>A	c.(928-930)Gtt>Att	p.V310I	HBG2_ENST00000380259.2_Intron|AC015691.13_ENST00000394793.2_RNA	NM_001005162.2	NP_001005162.2	Q8NGF0	O52B6_HUMAN	olfactory receptor, family 52, subfamily B, member 6	310					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)	12		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;3.56e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCTCAATCCCGTTATTTATGG	0.443													60	82					0	0	1	0	0	A	5603034	G	A	5603034	3	1	260	1	0	0	0	0	1	0	0	0	11161	1145	40	1	930	1	OR52B6	11	5603034	Missense_Mutation	SNP	G	TCGA-HT-7677-01A-11D-2253-08		5603034	129403482	27	27459											
LTBR	4055	broad.mit.edu	37	12	6499942	6499942	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr12:6499942G>A	ENST00000228918.4	+	10	1473	c.1147G>A	c.(1147-1149)Gaa>Aaa	p.E383K	LTBR_ENST00000541102.1_Missense_Mutation_p.E240K|LTBR_ENST00000539925.1_Missense_Mutation_p.E364K	NM_002342.2	NP_002333.1	P36941	TNR3_HUMAN	lymphotoxin beta receptor (TNFR superfamily, member 3)	383					apoptosis|cellular response to mechanical stimulus|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane	protein binding|receptor activity			breast(1)|cervix(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	15						AGCTACCCCCGAACCTCCATA	0.612													5	139					0	0	1	0	0	A	6499942	G	A	6499942	3	1	260	1	0	0	0	0	1	0	0	0	9122	1059	37	1	1185	1	LTBR	12	6499942	Missense_Mutation	SNP	G	TCGA-HT-7677-01A-11D-2253-08		6499942	127351953	28	27460											
EMG1	10436	broad.mit.edu	37	12	7083747	7083747	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr12:7083747C>T	ENST00000261406.6	+	4	444	c.301C>T	c.(301-303)Cga>Tga	p.R101*	EMG1_ENST00000546220.1_3'UTR	NM_006331.7	NP_006322.4	Q92979	NEP1_HUMAN	EMG1 N1-specific pseudouridine methyltransferase						ribosomal small subunit biogenesis	cytoplasm|nucleolus	rRNA (pseudouridine) methyltransferase activity|rRNA binding										TCCCCTGAACCGAGCTGGCTT	0.493													15	32					0	0	1	0	0	T	7083747	C	T	7083747	4	4	260	1	0	0	0	0	0	1	0	0	5118	644	23	1	313	1	EMG1	12	7083747	Nonsense_Mutation	SNP	C	TCGA-HT-7677-01A-11D-2253-08	583805	7083747	126768148	29	27461											
STRAP	11171	broad.mit.edu	37	12	16036493	16036493	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr12:16036493G>A	ENST00000419869.2	+	2	444	c.131G>A	c.(130-132)cGc>cAc	p.R44H	STRAP_ENST00000025399.6_Missense_Mutation_p.R57H|STRAP_ENST00000538352.1_Intron	NM_007178.3	NP_009109.3	Q9Y3F4	STRAP_HUMAN	serine/threonine kinase receptor associated protein	44					mRNA processing|RNA splicing	cell junction|mitochondrion|spliceosomal complex	identical protein binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(6)|skin(1)	15		Hepatocellular(102;0.121)				CCTATGCTACGCCAGGGAGAT	0.358													3	53					0	0	1	0	0	A	16036493	G	A	16036493	3	1	260	1	0	0	0	0	1	0	0	0	15382	1087	38	1	137	1	STRAP	12	16036493	Missense_Mutation	SNP	G	TCGA-HT-7677-01A-11D-2253-08	8952746	16036493	117815402	30	27462											
KRT75	9119	broad.mit.edu	37	12	52822506	52822506	+	Missense_Mutation	SNP	C	C	T	rs140579691	byFrequency	TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr12:52822506C>T	ENST00000252245.5	-	6	1277	c.1057G>A	c.(1057-1059)Gca>Aca	p.A353T		NM_004693.2	NP_004684.2	O95678	K2C75_HUMAN	keratin 75	353	Coil 2.|Rod.					keratin filament	structural molecule activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(10)|prostate(1)|skin(1)	28				BRCA - Breast invasive adenocarcinoma(357;0.192)		TGTCTGCCTGCGGTGACCTGC	0.547													9	120					0	0	1	0	0	T	52822506	C	T	52822506	3	4	260	1	0	0	0	0	1	0	0	0	8531	768	27	1	614	1	KRT75	12	52822506	Missense_Mutation	SNP	C	TCGA-HT-7677-01A-11D-2253-08	36786013	52822506	81029389	31	27463											
HVCN1	84329	broad.mit.edu	37	12	111099098	111099098	+	Silent	SNP	G	G	C			TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr12:111099098G>C	ENST00000356742.5	-	3	930	c.177C>G	c.(175-177)ccC>ccG	p.P59P	HVCN1_ENST00000242607.8_Silent_p.P59P|HVCN1_ENST00000439744.2_Silent_p.P39P|HVCN1_ENST00000548312.1_Silent_p.P59P			Q96D96	HVCN1_HUMAN	hydrogen voltage-gated channel 1	59					response to pH|response to zinc ion	integral to membrane	voltage-gated proton channel activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	19						AGACTGGTGTGGGTGGTGGCT	0.622													23	64					0	0	1	0	0	C	111099098	G	C	111099098	2	2	260	1	0	0	0	0	0	0	0	1	7506	1335	47	5		5	HVCN1	12	111099098	Silent	SNP	G	TCGA-HT-7677-01A-11D-2253-08	58276592	111099098	22752797	32	27464											
UBC	7316	broad.mit.edu	37	12	125397147	125397147	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr12:125397147T>C	ENST00000536769.1	-	1	2747	c.1171A>G	c.(1171-1173)Aag>Gag	p.K391E	UBC_ENST00000339647.5_Missense_Mutation_p.K391E|UBC_ENST00000546120.1_Missense_Mutation_p.K315E|UBC_ENST00000538617.1_Intron			P0CG48	UBC_HUMAN	ubiquitin C	391	Ubiquitin-like 6.				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding			breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		GTGATGGTCTTACCAGTCAGG	0.527													36	510					0	0	1	0	0	C	125397147	T	C	125397147	3	2	260	1	0	0	0	0	1	0	0	0	16903	1763	61	3	890	3	UBC	12	125397147	Missense_Mutation	SNP	T	TCGA-HT-7677-01A-11D-2253-08	14298049	125397147	8454748	33	27465											
OXGR1	27199	broad.mit.edu	37	13	97639669	97639669	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr13:97639669G>T	ENST00000298440.1	-	4	588	c.345C>A	c.(343-345)ttC>ttA	p.F115L	OXGR1_ENST00000543457.1_Missense_Mutation_p.F115L	NM_080818.3	NP_543008.3	Q96P68	OXGR1_HUMAN	oxoglutarate (alpha-ketoglutarate) receptor 1	115						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			NS(1)|large_intestine(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	15	all_neural(89;0.0982)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.186)			TATACAGGTTGAAATGGAAGC	0.453													3	55					0.150653	0.153123	1	1	0	T	97639669	G	T	97639669	3	4	260	1	0	0	0	0	1	0	0	0	11379	1281	45	5	672	5	OXGR1	13	97639669	Missense_Mutation	SNP	G	TCGA-HT-7677-01A-11D-2253-08		97639669	17530209	34	27466											
PTPN9	5780	broad.mit.edu	37	15	75761319	75761319	+	Missense_Mutation	SNP	A	A	C			TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr15:75761319A>C	ENST00000306726.2	-	13	2085	c.1573T>G	c.(1573-1575)Ttc>Gtc	p.F525V		NM_002833.2	NP_002824.1	P43378	PTN9_HUMAN	protein tyrosine phosphatase, non-receptor type 9	525	Tyrosine-protein phosphatase.					cytoplasmic part	non-membrane spanning protein tyrosine phosphatase activity|protein binding			central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						AGTGAGCAGAAGGTACCTGAA	0.512													14	20					0	0	1	0	0	C	75761319	A	C	75761319	3	2	260	1	0	0	0	0	1	0	0	0	12846	72	3	5	212	5	PTPN9	15	75761319	Missense_Mutation	SNP	A	TCGA-HT-7677-01A-11D-2253-08		75761319	26770073	35	27467											
TRAF7	84231	broad.mit.edu	37	16	2223509	2223509	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr16:2223509T>C	ENST00000326181.6	+	11	1172	c.1040T>C	c.(1039-1041)cTc>cCc	p.L347P		NM_032271.2	NP_115647.2	Q6Q0C0	TRAF7_HUMAN	TNF receptor-associated factor 7, E3 ubiquitin protein ligase	347					activation of MAPKKK activity|apoptosis|regulation of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic membrane-bounded vesicle|ubiquitin ligase complex	identical protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	23						CAGAGCAAGCTCAGCGAGGAC	0.682													34	57					0	0	1	0	0	C	2223509	T	C	2223509	3	2	260	1	0	0	0	0	1	0	0	0	16507	1551	54	3	1078	3	TRAF7	16	2223509	Missense_Mutation	SNP	T	TCGA-HT-7677-01A-11D-2253-08		2223509	88131244	36	27468											
SIAH1	6477	broad.mit.edu	37	16	48396223	48396224	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr16:48396223_48396224delAA	ENST00000380006.2	-	1	1569_1570	c.116_117delTT	c.(115-117)tttfs	p.F39fs	SIAH1_ENST00000394725.2_Frame_Shift_Del_p.F39fs|SIAH1_ENST00000356721.3_Frame_Shift_Del_p.F70fs			Q8IUQ4	SIAH1_HUMAN	siah E3 ubiquitin protein ligase 1	39					axon guidance|cell cycle|neuron apoptosis|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|spermatogenesis	beta-catenin destruction complex|cytosol|nucleus	protein C-terminus binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|stomach(1)	7		all_cancers(37;0.157)|all_lung(18;0.11)|Breast(268;0.238)				CTGGACACTCAAAAAGACTCGC	0.51													7	102	---	---	---	---						-	48396224	AA	-	48396223	7	5	260	1	0	1	0	1	0	0	0	0	14354	127	5	0	735	0	SIAH1	16	48396223	Frame_Shift_Del	DEL	AA	TCGA-HT-7677-01A-11D-2253-08	46172714	48396223	41958530	37	27469											
DHODH	1723	broad.mit.edu	37	16	72057134	72057134	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr16:72057134G>A	ENST00000572887.1	+	7	1067	c.890G>A	c.(889-891)cGc>cAc	p.R297H	DHODH_ENST00000219240.4_Missense_Mutation_p.R297H|DHODH_ENST00000573922.1_3'UTR			Q02127	PYRD_HUMAN	dihydroorotate dehydrogenase (quinone)	297					'de novo' pyrimidine base biosynthetic process|pyrimidine nucleoside biosynthetic process|UMP biosynthetic process	integral to membrane|mitochondrial inner membrane	dihydroorotate oxidase activity			breast(1)|endometrium(2)|large_intestine(4)|ovary(1)|skin(1)|stomach(1)	10		Ovarian(137;0.125)			Atovaquone(DB01117)|Leflunomide(DB01097)	GGTGCCCTGCGCTCTGAAACA	0.562													4	88					0	0	1	0	0	A	72057134	G	A	72057134	3	1	260	1	0	0	0	0	1	0	0	0	4512	1087	38	1	916	1	DHODH	16	72057134	Missense_Mutation	SNP	G	TCGA-HT-7677-01A-11D-2253-08	23660911	72057134	18297619	38	27470											
IL17C	27189	broad.mit.edu	37	16	88705399	88705399	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr16:88705399G>A	ENST00000244241.4	+	2	66	c.17G>A	c.(16-18)gGc>gAc	p.G6D		NM_013278.3	NP_037410.1	Q9P0M4	IL17C_HUMAN	interleukin 17C	6					cell surface receptor linked signaling pathway|cell-cell signaling|inflammatory response	extracellular space|soluble fraction	cytokine activity			large_intestine(1)|lung(1)	2				BRCA - Breast invasive adenocarcinoma(80;0.0477)		CTCCTCCCCGGCCTCCTGTTT	0.642													50	199					0	0	1	0	0	A	88705399	G	A	88705399	3	1	260	1	0	0	0	0	1	0	0	0	7680	1203	42	2	23	2	IL17C	16	88705399	Missense_Mutation	SNP	G	TCGA-HT-7677-01A-11D-2253-08	16648265	88705399	1649354	39	27471											
TBX2	6909	broad.mit.edu	37	17	59482747	59482748	+	Frame_Shift_Ins	INS	-	-	G			TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr17:59482747_59482748insG	ENST00000240328.3	+	6	1517_1518	c.1236_1237insG	c.(1237-1239)gggfs	p.G413fs	RP11-332H18.4_ENST00000592009.1_RNA	NM_005994.3	NP_005985.3	Q13207	TBX2_HUMAN	T-box 2	413					cell aging|positive regulation of cell proliferation		sequence-specific DNA binding			endometrium(1)|lung(7)|ovary(1)	9						CCGAGAGCGGCGGGGACGGCCC	0.748													2	4	---	---	---	---						G	59482748	-	G	59482747	7	5	260	1	0	1	1	0	0	0	0	0	15715	755	27	0	1258	0	TBX2	17	59482747	Frame_Shift_Ins	INS	-	TCGA-HT-7677-01A-11D-2253-08		59482747	21712463	40	27472											
DSC2	1824	broad.mit.edu	37	18	28650804	28650804	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr18:28650804G>A	ENST00000280904.6	-	14	2581	c.2138C>T	c.(2137-2139)aCg>aTg	p.T713M	DSC2_ENST00000251081.6_Missense_Mutation_p.T713M	NM_024422.3	NP_077740.1	Q02487	DSC2_HUMAN	desmocollin 2	713					homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			ACAGACCAGCGTAAACAGGAT	0.363													11	52					0	0	1	0	0	A	28650804	G	A	28650804	3	1	260	1	0	0	0	0	1	0	0	0	4792	1145	40	1	619	1	DSC2	18	28650804	Missense_Mutation	SNP	G	TCGA-HT-7677-01A-11D-2253-08		28650804	49426444	41	27473											
MIDN	90007	broad.mit.edu	37	19	1255053	1255053	+	Silent	SNP	C	C	T			TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr19:1255053C>T	ENST00000300952.2	+	6	1364	c.849C>T	c.(847-849)acC>acT	p.T283T	MIDN_ENST00000591446.2_Silent_p.T283T	NM_177401.4	NP_796375.3	Q504T8	MIDN_HUMAN	midnolin	283						nucleolus				NS(1)|endometrium(3)|kidney(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|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)		TCTCAGGGACCTTCTCTGGTA	0.617													5	92					0	0	1	0	0	T	1255053	C	T	1255053	2	4	260	1	0	0	0	0	0	0	0	1	9627	668	24	2		2	MIDN	19	1255053	Silent	SNP	C	TCGA-HT-7677-01A-11D-2253-08		1255053	57873930	42	27474											
ZSWIM4	65249	broad.mit.edu	37	19	13939496	13939496	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr19:13939496G>A	ENST00000254323.2	+	12	2255	c.2066G>A	c.(2065-2067)cGg>cAg	p.R689Q	ZSWIM4_ENST00000440752.2_Missense_Mutation_p.R523Q	NM_023072.2	NP_075560.2	Q9H7M6	ZSWM4_HUMAN	zinc finger, SWIM-type containing 4	689							zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27			OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19)			ACCTGGCGGCGGAGGGAGATG	0.622													4	165					0	0	1	0	0	A	13939496	G	A	13939496	3	1	260	1	0	0	0	0	1	0	0	0	18283	1116	39	1	2112	1	ZSWIM4	19	13939496	Missense_Mutation	SNP	G	TCGA-HT-7677-01A-11D-2253-08	12684443	13939496	45189487	43	27475											
OR7A17	26333	broad.mit.edu	37	19	14991283	14991284	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr19:14991283_14991284delTT	ENST00000327462.2	-	1	980_981	c.884_885delAA	c.(883-885)aaafs	p.K295fs		NM_030901.1	NP_112163.1	O14581	OR7AH_HUMAN	olfactory receptor, family 7, subfamily A, member 17	295					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)	12	Ovarian(108;0.203)					TCTTTATGTCTTTATTCCTCAG	0.436													20	87	---	---	---	---						-	14991284	TT	-	14991283	7	5	260	1	0	1	0	1	0	0	0	0	11262	1606	56	0	46	0	OR7A17	19	14991283	Frame_Shift_Del	DEL	TT	TCGA-HT-7677-01A-11D-2253-08	1051787	14991283	44137700	44	27476											
FCHO1	23149	broad.mit.edu	37	19	17886277	17886277	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr19:17886277G>A	ENST00000594202.1	+	15	1237	c.958G>A	c.(958-960)Gtg>Atg	p.V320M	FCHO1_ENST00000252771.7_Missense_Mutation_p.V320M|FCHO1_ENST00000539407.1_Missense_Mutation_p.V320M|FCHO1_ENST00000389133.4_Missense_Mutation_p.V320M|FCHO1_ENST00000596536.1_Missense_Mutation_p.V320M|FCHO1_ENST00000600676.1_Missense_Mutation_p.V320M|FCHO1_ENST00000595033.1_Missense_Mutation_p.V270M|FCHO1_ENST00000597512.1_Missense_Mutation_p.V327M|FCHO1_ENST00000596951.1_Missense_Mutation_p.V320M	NM_001161357.1	NP_001154829.1	O14526	FCHO1_HUMAN	FCH domain only 1	320										NS(2)|breast(1)|large_intestine(6)|liver(1)|lung(12)	22						ATGTCCAGAGGTGGATGAAGA	0.597											OREG0025349	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	22	194					0	0	1	0	0	A	17886277	G	A	17886277	3	1	260	1	0	0	0	0	1	0	0	0	5820	1261	44	2	1004	2	FCHO1	19	17886277	Missense_Mutation	SNP	G	TCGA-HT-7677-01A-11D-2253-08	2894994	17886277	41242706	45	27477											
CIC	23152	broad.mit.edu	37	19	42799051	42799051	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr19:42799051G>T	ENST00000572681.2	+	21	7321	c.7253G>T	c.(7252-7254)cGt>cTt	p.R2418L	CIC_ENST00000160740.3_Missense_Mutation_p.R1510L|CIC_ENST00000575354.2_Missense_Mutation_p.R1512L			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	1512					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				TTGAAGATCCGTGAGGTGCGC	0.627			"Mis, F, S"		oligodendroglioma								52	25					2.53126e-37	2.85342e-37	1	1	0	T	42799051	G	T	42799051	3	4	260	1	0	0	0	0	1	0	0	0	3446	1145	40	5	4613	5	CIC	19	42799051	Missense_Mutation	SNP	G	TCGA-HT-7677-01A-11D-2253-08	24912774	42799051	16329932	46	27478											
CA11	770	broad.mit.edu	37	19	49143394	49143394	+	Silent	SNP	G	G	A			TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr19:49143394G>A	ENST00000084798.4	-	4	1108	c.429C>T	c.(427-429)gcC>gcT	p.A143A	SEC1P_ENST00000430145.2_RNA	NM_001217.3	NP_001208.2	O75493	CAH11_HUMAN	carbonic anhydrase XI	143						extracellular region				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)	14		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000103)|all cancers(93;0.000119)|GBM - Glioblastoma multiforme(486;0.00634)|Epithelial(262;0.016)		GTTCCGAGCCGGCTCCGTCGC	0.607													6	79					0	0	1	0	0	A	49143394	G	A	49143394	2	1	260	1	0	0	0	0	0	0	0	1	2530	1103	39	1		1	CA11	19	49143394	Silent	SNP	G	TCGA-HT-7677-01A-11D-2253-08	6344343	49143394	9985589	47	27479											
ADAMTS5	11096	broad.mit.edu	37	21	28302301	28302301	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr21:28302301C>G	ENST00000284987.5	-	7	2250	c.2129G>C	c.(2128-2130)gGc>gCc	p.G710A	AP001601.2_ENST00000426771.1_RNA	NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	710	Cys-rich.				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						GCCAATGATGCCGTCACAGCC	0.473													9	436					0	0	1	0	0	G	28302301	C	G	28302301	3	3	260	1	0	0	0	0	1	0	0	0	268	739	26	5	671	5	ADAMTS5	21	28302301	Missense_Mutation	SNP	C	TCGA-HT-7677-01A-11D-2253-08		28302301	19827594	48	27480											
MRAP	56246	broad.mit.edu	37	21	33684248	33684248	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr21:33684248G>A	ENST00000399784.2	+	5	647	c.460G>A	c.(460-462)Gtc>Atc	p.V154I	URB1_ENST00000382751.3_3'UTR|MRAP_ENST00000339944.4_Intron|MRAP_ENST00000497833.1_3'UTR|MRAP_ENST00000303645.5_Missense_Mutation_p.V154I|MRAP_ENST00000399786.3_Intron	NM_178817.3	NP_848932.1	Q8TCY5	MRAP_HUMAN	melanocortin 2 receptor accessory protein	154					positive regulation of cAMP biosynthetic process|protein localization at cell surface	endoplasmic reticulum|integral to membrane|perinuclear region of cytoplasm|plasma membrane	corticotropin hormone receptor binding|type 1 melanocortin receptor binding|type 3 melanocortin receptor binding|type 4 melanocortin receptor binding|type 5 melanocortin receptor binding			endometrium(1)|large_intestine(2)|lung(3)	6						GGGTCCCCTCGTCAGGAGCAA	0.602													33	45					0	0	1	0	0	A	33684248	G	A	33684248	3	1	260	1	0	0	0	0	1	0	0	0	9802	1145	40	1	470	1	MRAP	21	33684248	Missense_Mutation	SNP	G	TCGA-HT-7677-01A-11D-2253-08	5381947	33684248	14445647	49	27481											
INSRR	3645	broad.mit.edu	37	1	156823629	156823629	+	Silent	SNP	C	C	T			TCGA-HT-7680-01A-11D-2253-08	TCGA-HT-7680-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad1dd18-303c-4f67-ac35-4ab89739f2bd	58445e52-52f3-46b7-ad9e-545dc18f369f	g.chr1:156823629C>T	ENST00000368195.3	-	2	948	c.552G>A	c.(550-552)ctG>ctA	p.L184L	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	184					protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CAGCAGCACCCAGCACACCAG	0.637													27	40					0	0	1	0	0	T	156823629	C	T	156823629	2	4	261	1	0	0	0	0	0	0	0	1	7818	581	21	2		2	INSRR	1	156823629	Silent	SNP	C	TCGA-HT-7680-01A-11D-2253-08		156823629	92426992	1	27482											
CD244	51744	broad.mit.edu	37	1	160811160	160811160	+	Silent	SNP	G	G	A			TCGA-HT-7680-01A-11D-2253-08	TCGA-HT-7680-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad1dd18-303c-4f67-ac35-4ab89739f2bd	58445e52-52f3-46b7-ad9e-545dc18f369f	g.chr1:160811160G>A	ENST00000368034.4	-	3	672	c.495C>T	c.(493-495)taC>taT	p.Y165Y	CD244_ENST00000322302.7_Intron|CD244_ENST00000368033.3_Silent_p.Y170Y|CD244_ENST00000368032.2_Silent_p.Y165Y	NM_001166663.1|NM_001166664.1|NM_016382.3	NP_001160135.1|NP_001160136.1|NP_057466.1	Q9BZW8	CD244_HUMAN	CD244 molecule, natural killer cell receptor 2B4	170	Ig-like 2.				blood coagulation|leukocyte migration	integral to membrane|plasma membrane	protein binding|receptor activity			central_nervous_system(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1)	18	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			TGCTCCCTCTGTACCAAGCAT	0.547													64	121					0	0	1	0	0	A	160811160	G	A	160811160	2	1	261	1	0	0	0	0	0	0	0	1	3009	1372	48	2		2	CD244	1	160811160	Silent	SNP	G	TCGA-HT-7680-01A-11D-2253-08	3987531	160811160	88439461	2	27483											
TBCCD1	55171	broad.mit.edu	37	3	186268998	186268998	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7680-01A-11D-2253-08	TCGA-HT-7680-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad1dd18-303c-4f67-ac35-4ab89739f2bd	58445e52-52f3-46b7-ad9e-545dc18f369f	g.chr3:186268998G>A	ENST00000424280.1	-	7	2094	c.1615C>T	c.(1615-1617)Cgc>Tgc	p.R539C	TBCCD1_ENST00000338733.5_Missense_Mutation_p.R539C|TBCCD1_ENST00000446782.1_Missense_Mutation_p.R443C	NM_001134415.1	NP_001127887.1	Q9NVR7	TBCC1_HUMAN	TBCC domain containing 1	539					cell morphogenesis|maintenance of centrosome location|maintenance of Golgi location|regulation of cell migration|regulation of cell shape	spindle pole centrosome	binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|skin(1)	17	all_cancers(143;3.75e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;4.3e-21)	GBM - Glioblastoma multiforme(93;0.0474)		AGCTGTTGGCGATGTCCTGTA	0.428													3	81					0	0	1	0	0	A	186268998	G	A	186268998	3	1	261	1	0	0	0	0	1	0	0	0	15692	1058	37	1	62	1	TBCCD1	3	186268998	Missense_Mutation	SNP	G	TCGA-HT-7680-01A-11D-2253-08		186268998	11753432	3	27484											
PLRG1	5356	broad.mit.edu	37	4	155459182	155459182	+	Silent	SNP	G	G	A	rs146078897		TCGA-HT-7680-01A-11D-2253-08	TCGA-HT-7680-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad1dd18-303c-4f67-ac35-4ab89739f2bd	58445e52-52f3-46b7-ad9e-545dc18f369f	g.chr4:155459182G>A	ENST00000499023.2	-	13	1356	c.1230C>T	c.(1228-1230)tcC>tcT	p.S410S	PLRG1_ENST00000302078.5_Silent_p.S401S|PLRG1_ENST00000393905.2_Silent_p.S410S	NM_001201564.1|NM_002669.3	NP_001188493.1|NP_002660.1	O43660	PLRG1_HUMAN	pleiotropic regulator 1	410						catalytic step 2 spliceosome|nuclear speck	protein binding|signal transducer activity|transcription corepressor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|skin(1)|urinary_tract(1)	22	all_hematologic(180;0.215)	Renal(120;0.0854)				CATTATGACCGGAAAGATTTT	0.303													3	102					0	0	1	0	0	A	155459182	G	A	155459182	2	1	261	1	0	0	0	0	0	0	0	1	12154	1103	39	1		1	PLRG1	4	155459182	Silent	SNP	G	TCGA-HT-7680-01A-11D-2253-08		155459182	35695094	4	27485											
EP400	57634	broad.mit.edu	37	12	132547141	132547141	+	Silent	SNP	G	G	A			TCGA-HT-7680-01A-11D-2253-08	TCGA-HT-7680-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad1dd18-303c-4f67-ac35-4ab89739f2bd	58445e52-52f3-46b7-ad9e-545dc18f369f	g.chr12:132547141G>A	ENST00000333577.4	+	48	8446	c.8337G>A	c.(8335-8337)caG>caA	p.Q2779Q	EP400_ENST00000389561.2_Silent_p.Q2743Q|EP400_ENST00000332482.4_Silent_p.Q2706Q|EP400_ENST00000330386.6_Silent_p.Q2662Q|EP400_ENST00000389562.2_Silent_p.Q2742Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2779	Interaction with ZNF42 (By similarity).|Poly-Gln.				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	p.Q2742Q(2)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcaacagcagcagcagc	0.597													3	42					0	0	1	0	0	A	132547141	G	A	132547141	2	1	261	1	0	0	0	0	0	0	0	1	5177	962	34	2		2	EP400	12	132547141	Silent	SNP	G	TCGA-HT-7680-01A-11D-2253-08		132547141	1304754	5	27486											
LRRK1	79705	broad.mit.edu	37	15	101514014	101514014	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HT-7680-01A-11D-2253-08	TCGA-HT-7680-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad1dd18-303c-4f67-ac35-4ab89739f2bd	58445e52-52f3-46b7-ad9e-545dc18f369f	g.chr15:101514014delG	ENST00000284395.5	+	3	422	c.22delG	c.(22-24)gggfs	p.G8fs	LRRK1_ENST00000388948.3_Frame_Shift_Del_p.G35fs|LRRK1_ENST00000532029.2_Frame_Shift_Del_p.G35fs			Q38SD2	LRRK1_HUMAN	leucine-rich repeat kinase 1	35					small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CGCAGGTGCCGGGGACACGGG	0.741													2	4	---	---	---	---						-	101514014	G	-	101514014	7	5	261	1	0	1	0	1	0	0	0	0	9077	1116	39	0	109	0	LRRK1	15	101514014	Frame_Shift_Del	DEL	G	TCGA-HT-7680-01A-11D-2253-08		101514014	1017378	6	27487											
SIPA1L3	23094	broad.mit.edu	37	19	38572367	38572368	+	In_Frame_Ins	INS	-	-	GCCACC			TCGA-HT-7680-01A-11D-2253-08	TCGA-HT-7680-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad1dd18-303c-4f67-ac35-4ab89739f2bd	58445e52-52f3-46b7-ad9e-545dc18f369f	g.chr19:38572367_38572368insGCCACC	ENST00000222345.6	+	3	671_672	c.162_163insGCCACC	c.(163-165)gcc>GCCACCgcc	p.55_55A>ATA		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	55					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			GCGAGAGCCCGgccaccgccac	0.718													5	11	---	---	---	---						GCCACC	38572368	-	GCCACC	38572367	7	5	261	1	0	1	1	0	0	0	0	0	14386	1103	39	0	164	0	SIPA1L3	19	38572367	In_Frame_Ins	INS	-	TCGA-HT-7680-01A-11D-2253-08		38572367	20556616	7	27488											
PRR12	57479	broad.mit.edu	37	19	50105084	50105084	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7680-01A-11D-2253-08	TCGA-HT-7680-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad1dd18-303c-4f67-ac35-4ab89739f2bd	58445e52-52f3-46b7-ad9e-545dc18f369f	g.chr19:50105084C>T	ENST00000418929.2	+	6	4694	c.4682C>T	c.(4681-4683)aCg>aTg	p.T1561M		NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN	proline rich 12	740							DNA binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		TGTGGGGAGACGGACGAGGAG	0.682													16	29					0	0	1	0	0	T	50105084	C	T	50105084	3	4	261	1	0	0	0	0	1	0	0	0	12636	536	19	1	4704	1	PRR12	19	50105084	Missense_Mutation	SNP	C	TCGA-HT-7680-01A-11D-2253-08	11532717	50105084	9023899	8	27489											
SEPT6	23157	broad.mit.edu	37	X	118771068	118771068	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7680-01A-11D-2253-08	TCGA-HT-7680-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad1dd18-303c-4f67-ac35-4ab89739f2bd	58445e52-52f3-46b7-ad9e-545dc18f369f	g.chrX:118771068C>T	ENST00000394610.1	-	7	1142	c.878G>A	c.(877-879)cGg>cAg	p.R293Q	SEPT6_ENST00000360156.7_Missense_Mutation_p.R293Q|SEPT6_ENST00000394616.4_Missense_Mutation_p.R235Q|SEPT6_ENST00000354228.4_Missense_Mutation_p.R293Q|SEPT6_ENST00000394617.2_Missense_Mutation_p.R323Q|SEPT6_ENST00000489216.1_Missense_Mutation_p.R293Q|SEPT6_ENST00000343984.5_Missense_Mutation_p.R293Q|SEPT6_ENST00000354416.3_Missense_Mutation_p.R293Q	NM_145799.3	NP_665798.1	Q14141	SEPT6_HUMAN	septin 6	293					cell cycle|cytokinesis|interspecies interaction between organisms	cleavage furrow|condensed chromosome kinetochore|midbody|septin complex|spindle	GTP binding|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(3)	17						CTCATAGTGCCGGGTGTGGGT	0.587			T	MLL	AML								7	174					0	0	1	0	0	T	118771068	C	T	118771068	3	4	261	1	0	0	0	0	1	0	0	0	14122	652	23	1	464	1	SEPT6	23	118771068	Missense_Mutation	SNP	C	TCGA-HT-7680-01A-11D-2253-08		118771068	36499492	9	27490											
MAMLD1	10046	broad.mit.edu	37	X	149639635	149639635	+	Missense_Mutation	SNP	A	A	T			TCGA-HT-7680-01A-11D-2253-08	TCGA-HT-7680-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad1dd18-303c-4f67-ac35-4ab89739f2bd	58445e52-52f3-46b7-ad9e-545dc18f369f	g.chrX:149639635A>T	ENST00000370401.2	+	4	2100	c.1790A>T	c.(1789-1791)cAg>cTg	p.Q597L	MAMLD1_ENST00000432680.2_Missense_Mutation_p.Q572L|MAMLD1_ENST00000262858.5_Missense_Mutation_p.Q597L|MAMLD1_ENST00000426613.2_Missense_Mutation_p.Q572L|MAMLD1_ENST00000455522.2_Missense_Mutation_p.Q78L			Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	597	Poly-Gln.				male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37	Acute lymphoblastic leukemia(192;6.56e-05)					TTgcagctgcagcagcagcag	0.607													3	107					0	0	1	0	0	T	149639635	A	T	149639635	3	4	261	1	0	0	0	0	1	0	0	0	9258	188	7	5	1800	5	MAMLD1	23	149639635	Missense_Mutation	SNP	A	TCGA-HT-7680-01A-11D-2253-08	30868567	149639635	5630925	10	27491											
ZNF687	57592	broad.mit.edu	37	1	151258917	151258917	+	Silent	SNP	A	A	G			TCGA-HT-7681-01A-11D-2395-08	TCGA-HT-7681-10C-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	378982db-a5b2-405d-be34-30b870c8d215	16689ce9-1a6c-4702-91eb-68955024ac3e	g.chr1:151258917A>G	ENST00000368879.2	+	2	248	c.150A>G	c.(148-150)gaA>gaG	p.E50E		NM_020832.1	NP_065883.1	Q8N1G0	ZN687_HUMAN	zinc finger protein 687	50					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	32	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			TAGGAAGTGAATCTGAAGACA	0.572													32	53					0	0	1	0	0	G	151258917	A	G	151258917	2	3	262	1	0	0	0	0	0	0	0	1	18148	98	4	3		3	ZNF687	1	151258917	Silent	SNP	A	TCGA-HT-7681-01A-11D-2395-08		151258917	97991704	1	27492											
BCAN	63827	broad.mit.edu	37	1	156628820	156628820	+	Splice_Site	SNP	C	C	A			TCGA-HT-7681-01A-11D-2395-08	TCGA-HT-7681-10C-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	378982db-a5b2-405d-be34-30b870c8d215	16689ce9-1a6c-4702-91eb-68955024ac3e	g.chr1:156628820C>A	ENST00000329117.5	+	14	2966	c.2630C>A	c.(2629-2631)gCc>gAc	p.A877D	RP11-284F21.7_ENST00000448869.1_RNA	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN	brevican						cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding			cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CTTCCCCAGGCCCGAGCTCTG	0.627													2	6					0.0016	0.0016	1	1	0	A	156628820	C	A	156628820	5	1	262	1	0	0	0	0	0	0	1	0	1343	753	26	5	2754	5	BCAN	1	156628820	Splice_Site	SNP	C	TCGA-HT-7681-01A-11D-2395-08	5369903	156628820	92621801	2	27493											
RNPEP	6051	broad.mit.edu	37	1	201966606	201966606	+	Silent	SNP	C	C	T			TCGA-HT-7681-01A-11D-2395-08	TCGA-HT-7681-10C-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	378982db-a5b2-405d-be34-30b870c8d215	16689ce9-1a6c-4702-91eb-68955024ac3e	g.chr1:201966606C>T	ENST00000295640.4	+	5	1057	c.1014C>T	c.(1012-1014)aaC>aaT	p.N338N	RNPEP_ENST00000471105.1_3'UTR|RNPEP_ENST00000367286.3_Silent_p.N299N	NM_020216.3	NP_064601.3	Q9H4A4	AMPB_HUMAN	arginyl aminopeptidase (aminopeptidase B)	338					leukotriene biosynthetic process		epoxide hydrolase activity|zinc ion binding			breast(1)|endometrium(4)|large_intestine(4)|lung(6)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21				KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|Colorectal(1306;0.005)		TGGTCACCAACGCCAACTGGG	0.547													6	94					0	0	1	0	0	T	201966606	C	T	201966606	2	4	262	1	0	0	0	0	0	0	0	1	13561	535	19	1		1	RNPEP	1	201966606	Silent	SNP	C	TCGA-HT-7681-01A-11D-2395-08	45337786	201966606	47284015	3	27494											
OXER1	165140	broad.mit.edu	37	2	42990225	42990225	+	Missense_Mutation	SNP	C	C	G	rs143944527	byFrequency	TCGA-HT-7681-01A-11D-2395-08	TCGA-HT-7681-10C-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	378982db-a5b2-405d-be34-30b870c8d215	16689ce9-1a6c-4702-91eb-68955024ac3e	g.chr2:42990225C>G	ENST00000378661.2	-	1	1176	c.1095G>C	c.(1093-1095)caG>caC	p.Q365H		NM_148962.4	NP_683765.1	Q8TDS5	OXER1_HUMAN	oxoeicosanoid (OXE) receptor 1	365					regulation of cAMP biosynthetic process	integral to membrane|plasma membrane	5(S)-hydroxyperoxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding|5-hydroxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding|5-oxo-6E,8Z,11Z,14Z-icosatetraenoic acid binding|G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	10						AGGCCCGGCTCTGGTGGAGGA	0.652													4	49					0	0	1	0	0	G	42990225	C	G	42990225	3	3	262	1	0	0	0	0	1	0	0	0	11378	912	32	4	180	4	OXER1	2	42990225	Missense_Mutation	SNP	C	TCGA-HT-7681-01A-11D-2395-08		42990225	200209148	4	27495											
BRCA2	675	broad.mit.edu	37	13	32911765	32911765	+	Missense_Mutation	SNP	A	A	C	rs80359382		TCGA-HT-7681-01A-11D-2395-08	TCGA-HT-7681-10C-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	378982db-a5b2-405d-be34-30b870c8d215	16689ce9-1a6c-4702-91eb-68955024ac3e	g.chr13:32911765A>C	ENST00000544455.1	+	11	3500	c.3273A>C	c.(3271-3273)ttA>ttC	p.L1091F	BRCA2_ENST00000380152.3_Missense_Mutation_p.L1091F	NM_000059.3	NP_000050	P51587	BRCA2_HUMAN	breast cancer 2, early onset	1091					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		CTCAGATGTTATTTTCCAAGC	0.333			"D, Mis, N, F, S"		"breast, ovarian, pancreatic"	"breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			27	59					0	0	1	0	0	C	32911765	A	C	32911765	3	2	262	1	0	0	0	0	1	0	0	0	1501	446	16	4	3311	4	BRCA2	13	32911765	Missense_Mutation	SNP	A	TCGA-HT-7681-01A-11D-2395-08		32911765	82258113	5	27496											
OR11H6	122748	broad.mit.edu	37	14	20692083	20692083	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7681-01A-11D-2395-08	TCGA-HT-7681-10C-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	378982db-a5b2-405d-be34-30b870c8d215	16689ce9-1a6c-4702-91eb-68955024ac3e	g.chr14:20692083G>A	ENST00000315519.2	+	1	293	c.215G>A	c.(214-216)cGg>cAg	p.R72Q		NM_001004480.1	NP_001004480.1	Q8NGC7	O11H6_HUMAN	olfactory receptor, family 11, subfamily H, member 6	72					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(13)|ovary(2)|prostate(1)|skin(2)	29	all_cancers(95;0.00108)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0143)		TTGGACAGGCGGCTCCACACA	0.478													22	86					0	0	1	0	0	A	20692083	G	A	20692083	3	1	262	1	0	0	0	0	1	0	0	0	10977	1116	39	1	217	1	OR11H6	14	20692083	Missense_Mutation	SNP	G	TCGA-HT-7681-01A-11D-2395-08		20692083	86657457	6	27497											
SAMD4A	23034	broad.mit.edu	37	14	55236839	55236840	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HT-7681-01A-11D-2395-08	TCGA-HT-7681-10C-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	378982db-a5b2-405d-be34-30b870c8d215	16689ce9-1a6c-4702-91eb-68955024ac3e	g.chr14:55236839_55236840insA	ENST00000251091.5	+	7	1655_1656	c.1350_1351insA	c.(1351-1353)aaafs	p.K451fs	SAMD4A_ENST00000555192.1_Frame_Shift_Ins_p.K130fs|SAMD4A_ENST00000392067.3_Frame_Shift_Ins_p.K539fs|SAMD4A_ENST00000554335.1_Frame_Shift_Ins_p.K539fs|SAMD4A_ENST00000357634.3_Frame_Shift_Ins_p.K538fs	NM_001161576.2	NP_001155048.2	Q9UPU9	SMAG1_HUMAN	sterile alpha motif domain containing 4A	539					positive regulation of translation	cell junction|cytoplasm|dendrite|synapse|synaptosome	translation repressor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)	29						CAGAGACACAGAAAAAAAGATT	0.416													26	99	---	---	---	---						A	55236840	-	A	55236839	7	5	262	1	0	1	1	0	0	0	0	0	13873	933	33	0	1641	0	SAMD4A	14	55236839	Frame_Shift_Ins	INS	-	TCGA-HT-7681-01A-11D-2395-08	34544756	55236839	52112701	7	27498											
INF2	64423	broad.mit.edu	37	14	105174321	105174321	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7681-01A-11D-2395-08	TCGA-HT-7681-10C-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	378982db-a5b2-405d-be34-30b870c8d215	16689ce9-1a6c-4702-91eb-68955024ac3e	g.chr14:105174321C>T	ENST00000392634.4	+	8	1829	c.1717C>T	c.(1717-1719)Cca>Tca	p.P573S	INF2_ENST00000330634.7_Missense_Mutation_p.P573S	NM_022489.3	NP_071934.3	Q27J81	INF2_HUMAN	inverted formin, FH2 and WH2 domain containing	573	FH2.				actin cytoskeleton organization	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm	actin binding|Rho GTPase binding			large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)		GCAGAAGCTGCCATCCAACGT	0.657													19	38					0	0	1	0	0	T	105174321	C	T	105174321	3	4	262	1	0	0	0	0	1	0	0	0	7778	739	26	2	1747	2	INF2	14	105174321	Missense_Mutation	SNP	C	TCGA-HT-7681-01A-11D-2395-08	49937482	105174321	2175219	8	27499											
IDH2	3418	broad.mit.edu	37	15	90631838	90631838	+	Missense_Mutation	SNP	C	C	T	rs121913503		TCGA-HT-7681-01A-11D-2395-08	TCGA-HT-7681-10C-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	378982db-a5b2-405d-be34-30b870c8d215	16689ce9-1a6c-4702-91eb-68955024ac3e	g.chr15:90631838C>T	ENST00000330062.3	-	4	628	c.515G>A	c.(514-516)aGg>aAg	p.R172K	IDH2_ENST00000539790.1_Missense_Mutation_p.R42K|IDH2_ENST00000540499.2_Missense_Mutation_p.R120K|IDH2_ENST00000559482.1_Intron	NM_002168.2	NP_002159.2	P48735	IDHP_HUMAN	isocitrate dehydrogenase 2 (NADP+), mitochondrial	172					2-oxoglutarate metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding	p.R172K(116)|p.R172M(21)|p.R172N(1)		biliary_tract(11)|bone(19)|central_nervous_system(107)|endometrium(1)|haematopoietic_and_lymphoid_tissue(953)|large_intestine(8)|lung(5)|skin(5)	1109	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.106)			ATGGGCGTGCCTGCCAATGGT	0.632			M		GBM								22	53					0	0	1	0	0	T	90631838	C	T	90631838	3	4	262	1	0	0	0	0	1	0	0	0	7539	681	24	2	875	2	IDH2	15	90631838	Missense_Mutation	SNP	C	TCGA-HT-7681-01A-11D-2395-08		90631838	11899554	9	27500											
FBXL19	54620	broad.mit.edu	37	16	30939204	30939204	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HT-7681-01A-11D-2395-08	TCGA-HT-7681-10C-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	378982db-a5b2-405d-be34-30b870c8d215	16689ce9-1a6c-4702-91eb-68955024ac3e	g.chr16:30939204delC	ENST00000338343.4	+	5	934	c.547delC	c.(547-549)cccfs	p.P185fs	FBXL19_ENST00000565690.1_Intron|FBXL19_ENST00000471231.2_5'UTR|FBXL19_ENST00000562319.1_Frame_Shift_Del_p.P185fs|FBXL19_ENST00000380310.2_Frame_Shift_Del_p.P205fs			Q6PCT2	FXL19_HUMAN	F-box and leucine-rich repeat protein 19	205							DNA binding|zinc ion binding			breast(2)|endometrium(3)|lung(5)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16						GCCTGCCGGGCCCCCCCCGGA	0.711													2	4	---	---	---	---						-	30939204	C	-	30939204	7	5	262	1	0	1	0	1	0	0	0	0	5748	739	26	0	625	0	FBXL19	16	30939204	Frame_Shift_Del	DEL	C	TCGA-HT-7681-01A-11D-2395-08		30939204	59415549	10	27501											
ABCA8	10351	broad.mit.edu	37	17	66914237	66914237	+	Silent	SNP	G	G	A			TCGA-HT-7681-01A-11D-2395-08	TCGA-HT-7681-10C-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	378982db-a5b2-405d-be34-30b870c8d215	16689ce9-1a6c-4702-91eb-68955024ac3e	g.chr17:66914237G>A	ENST00000269080.2	-	14	2015	c.1878C>T	c.(1876-1878)cgC>cgT	p.R626R	ABCA8_ENST00000586539.1_Silent_p.R666R|ABCA8_ENST00000430352.2_Silent_p.R666R	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	626	ABC transporter 1.					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					AGAGGATCACGCGGTCTGTTT	0.453													6	76					0	0	1	0	0	A	66914237	G	A	66914237	2	1	262	1	0	0	0	0	0	0	0	1	38	1074	38	1		1	ABCA8	17	66914237	Silent	SNP	G	TCGA-HT-7681-01A-11D-2395-08		66914237	14280973	11	27502											
CD300A	11314	broad.mit.edu	37	17	72469878	72469878	+	Missense_Mutation	SNP	G	G	A	rs148191018	byFrequency	TCGA-HT-7681-01A-11D-2395-08	TCGA-HT-7681-10C-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	378982db-a5b2-405d-be34-30b870c8d215	16689ce9-1a6c-4702-91eb-68955024ac3e	g.chr17:72469878G>A	ENST00000360141.3	+	2	532	c.244G>A	c.(244-246)Gca>Aca	p.A82T	CD300A_ENST00000361933.3_Intron|CD300A_ENST00000310828.5_Intron|CD300A_ENST00000577511.1_5'UTR|CD300A_ENST00000392625.3_Intron	NM_001256841.1|NM_007261.3	NP_001243770.1|NP_009192.2	Q9UGN4	CLM8_HUMAN	CD300a molecule	82	Ig-like V-type.				cell adhesion	integral to membrane|plasma membrane	receptor activity			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(4)|urinary_tract(1)	16						GGACAGTCCTGCAAACCTCAG	0.532													5	84					0	0	1	0	0	A	72469878	G	A	72469878	3	1	262	1	0	0	0	0	1	0	0	0	3018	1319	46	2	250	2	CD300A	17	72469878	Missense_Mutation	SNP	G	TCGA-HT-7681-01A-11D-2395-08	5555641	72469878	8725332	12	27503											
CIC	23152	broad.mit.edu	37	19	42791757	42791757	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7681-01A-11D-2395-08	TCGA-HT-7681-10C-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	378982db-a5b2-405d-be34-30b870c8d215	16689ce9-1a6c-4702-91eb-68955024ac3e	g.chr19:42791757C>T	ENST00000572681.2	+	6	3438	c.3370C>T	c.(3370-3372)Cgg>Tgg	p.R1124W	CIC_ENST00000575354.2_Missense_Mutation_p.R215W|CIC_ENST00000160740.3_Missense_Mutation_p.R215W			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	215	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	p.R215W(4)		autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CAAGCGGCACCGGGCCCTGGT	0.612			"Mis, F, S"		oligodendroglioma								18	40					0	0	1	0	0	T	42791757	C	T	42791757	3	4	262	1	0	0	0	0	1	0	0	0	3446	643	23	1	661	1	CIC	19	42791757	Missense_Mutation	SNP	C	TCGA-HT-7681-01A-11D-2395-08		42791757	16337226	13	27504											
PCSK2	5126	broad.mit.edu	37	20	17462592	17462592	+	Silent	SNP	G	G	A			TCGA-HT-7681-01A-11D-2395-08	TCGA-HT-7681-10C-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	378982db-a5b2-405d-be34-30b870c8d215	16689ce9-1a6c-4702-91eb-68955024ac3e	g.chr20:17462592G>A	ENST00000262545.2	+	12	2109	c.1794G>A	c.(1792-1794)ccG>ccA	p.P598P	PCSK2_ENST00000377899.1_Silent_p.P579P|PCSK2_ENST00000536609.1_Silent_p.P563P|PCSK2_ENST00000459871.1_3'UTR	NM_002594.3	NP_002585.2	P16519	NEC2_HUMAN	proprotein convertase subtilisin/kexin type 2	598					enkephalin processing|insulin processing|islet amyloid polypeptide processing	extracellular space|membrane|soluble fraction|transport vesicle	serine-type endopeptidase activity			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	AGAGTGCCCCGTACATCGACC	0.612													3	28					0	0	1	0	0	A	17462592	G	A	17462592	2	1	262	1	0	0	0	0	0	0	0	1	11648	1132	40	1		1	PCSK2	20	17462592	Silent	SNP	G	TCGA-HT-7681-01A-11D-2395-08		17462592	45562928	14	27505											
IL2RB	3560	broad.mit.edu	37	22	37524372	37524372	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7681-01A-11D-2395-08	TCGA-HT-7681-10C-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	378982db-a5b2-405d-be34-30b870c8d215	16689ce9-1a6c-4702-91eb-68955024ac3e	g.chr22:37524372G>A	ENST00000216223.5	-	10	1618	c.1420C>T	c.(1420-1422)Cct>Tct	p.P474S		NM_000878.3	NP_000869.1	P14784	IL2RB_HUMAN	interleukin 2 receptor, beta	474					interspecies interaction between organisms|positive regulation of survival gene product expression|protein complex assembly	external side of plasma membrane|integral to plasma membrane	interleukin-2 receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(5)	23					Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)	GGGGTGGGAGGCCCCAGGGGC	0.677													22	43					0	0	1	0	0	A	37524372	G	A	37524372	3	1	262	1	0	0	0	0	1	0	0	0	7731	1203	42	2	239	2	IL2RB	22	37524372	Missense_Mutation	SNP	G	TCGA-HT-7681-01A-11D-2395-08		37524372	13780194	15	27506											
SYAP1	94056	broad.mit.edu	37	X	16774794	16774794	+	Silent	SNP	C	C	A			TCGA-HT-7681-01A-11D-2395-08	TCGA-HT-7681-10C-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	378982db-a5b2-405d-be34-30b870c8d215	16689ce9-1a6c-4702-91eb-68955024ac3e	g.chrX:16774794C>A	ENST00000380155.3	+	7	826	c.733C>A	c.(733-735)Cgg>Agg	p.R245R		NM_032796.3	NP_116185.2	Q96A49	SYAP1_HUMAN	synapse associated protein 1	245										endometrium(3)|lung(4)|pancreas(1)|prostate(1)|skin(1)	10	Hepatocellular(33;0.0997)					AGAGGCAGTACGGCCCAAAAC	0.343													9	36					7.48243e-07	7.67429e-07	1	1	0	A	16774794	C	A	16774794	2	1	262	1	0	0	0	0	0	0	0	1	15482	527	19	5		5	SYAP1	23	16774794	Silent	SNP	C	TCGA-HT-7681-01A-11D-2395-08		16774794	138495766	16	27507											
MORF4L2	9643	broad.mit.edu	37	X	102931856	102931856	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7681-01A-11D-2395-08	TCGA-HT-7681-10C-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	378982db-a5b2-405d-be34-30b870c8d215	16689ce9-1a6c-4702-91eb-68955024ac3e	g.chrX:102931856T>C	ENST00000423833.2	-	3	1325	c.100A>G	c.(100-102)Atg>Gtg	p.M34V	MORF4L2_ENST00000441076.2_Missense_Mutation_p.M34V|MORF4L2_ENST00000360458.1_Missense_Mutation_p.M34V|MORF4L2_ENST00000492116.1_5'UTR|MORF4L2_ENST00000451301.1_Missense_Mutation_p.M34V|MORF4L2_ENST00000433176.2_Missense_Mutation_p.M34V|MORF4L2_ENST00000422154.2_Missense_Mutation_p.M34V			Q15014	MO4L2_HUMAN	mortality factor 4 like 2	34					chromatin modification|DNA repair|regulation of cell growth|transcription, DNA-dependent	nucleolus	protein binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)	13						GCCCCTCTCATTTTACTTCTC	0.488													52	61					0	0	1	0	0	C	102931856	T	C	102931856	3	2	262	1	0	0	0	0	1	0	0	0	9756	1493	52	3	770	3	MORF4L2	23	102931856	Missense_Mutation	SNP	T	TCGA-HT-7681-01A-11D-2395-08	86157062	102931856	52338704	17	27508											
AFF2	2334	broad.mit.edu	37	X	148049222	148049222	+	Splice_Site	SNP	G	G	T			TCGA-HT-7681-01A-11D-2395-08	TCGA-HT-7681-10C-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	378982db-a5b2-405d-be34-30b870c8d215	16689ce9-1a6c-4702-91eb-68955024ac3e	g.chrX:148049222G>T	ENST00000370460.2	+	15	3746	c.3267G>T	c.(3265-3267)ctG>ctT	p.L1089L	AFF2_ENST00000370457.5_Splice_Site_p.L1054L|AFF2_ENST00000342251.3_Splice_Site_p.L1056L|AFF2_ENST00000286437.5_Splice_Site_p.L730L	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	1089					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					CTGATGCACTGGTAAGTTTCC	0.348													20	45					2.37509e-13	2.5001e-13	1	1	0	T	148049222	G	T	148049222	5	4	262	1	0	0	0	0	0	0	1	0	356	1362	47	5	3380	5	AFF2	23	148049222	Splice_Site	SNP	G	TCGA-HT-7681-01A-11D-2395-08	45117366	148049222	7221338	18	27509											
ALG6	29929	broad.mit.edu	37	1	63876858	63876858	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7684-01A-11D-2253-08	TCGA-HT-7684-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a568f27-c888-41cc-8196-03e138badd58	e5c70770-2bcf-4654-8ed2-c33cd1e09326	g.chr1:63876858T>C	ENST00000371108.4	+	8	841	c.536T>C	c.(535-537)cTt>cCt	p.L179P	ALG6_ENST00000263440.4_Missense_Mutation_p.L181P	NM_013339.3	NP_037471.2	Q9Y672	ALG6_HUMAN	ALG6, alpha-1,3-glucosyltransferase	179					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity			endometrium(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						TGGGGTGTTCTTGGAATATCT	0.363													40	109					0	0	1	0	0	C	63876858	T	C	63876858	3	2	263	1	0	0	0	0	1	0	0	0	518	1609	56	3	562	3	ALG6	1	63876858	Missense_Mutation	SNP	T	TCGA-HT-7684-01A-11D-2253-08		63876858	185373763	1	27510											
C2orf16	84226	broad.mit.edu	37	2	27799838	27799838	+	Silent	SNP	A	A	T			TCGA-HT-7684-01A-11D-2253-08	TCGA-HT-7684-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a568f27-c888-41cc-8196-03e138badd58	e5c70770-2bcf-4654-8ed2-c33cd1e09326	g.chr2:27799838A>T	ENST00000408964.2	+	1	450	c.399A>T	c.(397-399)gcA>gcT	p.A133A		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	133										breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					CAAAATATGCAGAGATGATCC	0.383													4	74					0	0	1	0	0	T	27799838	A	T	27799838	2	4	263	1	0	0	0	0	0	0	0	1	2171	175	7	5		5	C2orf16	2	27799838	Silent	SNP	A	TCGA-HT-7684-01A-11D-2253-08		27799838	215399535	2	27511											
LRP2	4036	broad.mit.edu	37	2	170038748	170038748	+	Silent	SNP	C	C	T			TCGA-HT-7684-01A-11D-2253-08	TCGA-HT-7684-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a568f27-c888-41cc-8196-03e138badd58	e5c70770-2bcf-4654-8ed2-c33cd1e09326	g.chr2:170038748C>T	ENST00000263816.3	-	51	10212	c.9927G>A	c.(9925-9927)caG>caA	p.Q3309Q	LRP2_ENST00000461418.1_5'UTR	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	3309					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	CCACACAGTGCTGGGCCAGCA	0.532													31	69					0	0	1	0	0	T	170038748	C	T	170038748	2	4	263	1	0	0	0	0	0	0	0	1	9001	796	28	2		2	LRP2	2	170038748	Silent	SNP	C	TCGA-HT-7684-01A-11D-2253-08	142238910	170038748	73160625	3	27512											
ANKAR	150709	broad.mit.edu	37	2	190585366	190585366	+	Missense_Mutation	SNP	A	A	C			TCGA-HT-7684-01A-11D-2253-08	TCGA-HT-7684-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a568f27-c888-41cc-8196-03e138badd58	e5c70770-2bcf-4654-8ed2-c33cd1e09326	g.chr2:190585366A>C	ENST00000520309.1	+	12	2576	c.2488A>C	c.(2488-2490)Aat>Cat	p.N830H	ANKAR_ENST00000438402.2_Missense_Mutation_p.N830H|ANKAR_ENST00000281412.6_Missense_Mutation_p.N594H|ANKAR_ENST00000431575.2_Missense_Mutation_p.N759H|ANKAR_ENST00000313581.4_Missense_Mutation_p.N830H	NM_144708.3	NP_653309.3	Q7Z5J8	ANKAR_HUMAN	ankyrin and armadillo repeat containing	830						integral to membrane	binding			breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)			AAGCCTGATAAATCTATTGAA	0.284													16	44					0	0	1	0	0	C	190585366	A	C	190585366	3	2	263	1	0	0	0	0	1	0	0	0	619	14	1	5	2530	5	ANKAR	2	190585366	Missense_Mutation	SNP	A	TCGA-HT-7684-01A-11D-2253-08	20546618	190585366	52614007	4	27513											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-HT-7684-01A-11D-2253-08	TCGA-HT-7684-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a568f27-c888-41cc-8196-03e138badd58	e5c70770-2bcf-4654-8ed2-c33cd1e09326	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								28	34					0	0	1	0	0	T	209113112	C	T	209113112	3	4	263	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HT-7684-01A-11D-2253-08	18527746	209113112	34086261	5	27514											
SETD2	29072	broad.mit.edu	37	3	47103767	47103767	+	Nonsense_Mutation	SNP	G	G	C			TCGA-HT-7684-01A-11D-2253-08	TCGA-HT-7684-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a568f27-c888-41cc-8196-03e138badd58	e5c70770-2bcf-4654-8ed2-c33cd1e09326	g.chr3:47103767G>C	ENST00000409792.3	-	14	6221	c.6179C>G	c.(6178-6180)tCa>tGa	p.S2060*	SETD2_ENST00000492397.1_5'UTR	NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	2060					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		TCTCTCTCTTGACCTATTAGG	0.463			"N, F, S, Mis"		clear cell renal carcinoma								6	128					0	0	1	0	0	C	47103767	G	C	47103767	4	2	263	1	0	0	0	0	0	1	0	0	14185	1294	45	5	1547	5	SETD2	3	47103767	Nonsense_Mutation	SNP	G	TCGA-HT-7684-01A-11D-2253-08		47103767	150918663	6	27515											
CCDC54	84692	broad.mit.edu	37	3	107097101	107097101	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7684-01A-11D-2253-08	TCGA-HT-7684-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a568f27-c888-41cc-8196-03e138badd58	e5c70770-2bcf-4654-8ed2-c33cd1e09326	g.chr3:107097101C>T	ENST00000261058.1	+	1	914	c.667C>T	c.(667-669)Cgt>Tgt	p.R223C		NM_032600.2	NP_115989.1	Q8NEL0	CCD54_HUMAN	coiled-coil domain containing 54	223										NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	19						TCTGAAGAAACGTAACCATCA	0.378													27	36					0	0	1	0	0	T	107097101	C	T	107097101	3	4	263	1	0	0	0	0	1	0	0	0	2844	536	19	1	669	1	CCDC54	3	107097101	Missense_Mutation	SNP	C	TCGA-HT-7684-01A-11D-2253-08	59993334	107097101	90925329	7	27516											
TRPC7	57113	broad.mit.edu	37	5	135561020	135561020	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7684-01A-11D-2253-08	TCGA-HT-7684-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a568f27-c888-41cc-8196-03e138badd58	e5c70770-2bcf-4654-8ed2-c33cd1e09326	g.chr5:135561020A>G	ENST00000513104.1	-	10	2567	c.2285T>C	c.(2284-2286)aTg>aCg	p.M762T	TRPC7_ENST00000426057.2_Missense_Mutation_p.M646T|TRPC7_ENST00000355180.3_Missense_Mutation_p.M701T	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	762					axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			AGAATTCCTCATGCCAGCCTG	0.453													6	12					0	0	1	0	0	G	135561020	A	G	135561020	3	3	263	1	0	0	0	0	1	0	0	0	16645	217	8	3	315	3	TRPC7	5	135561020	Missense_Mutation	SNP	A	TCGA-HT-7684-01A-11D-2253-08		135561020	45354240	8	27517											
LY6G6D	58530	broad.mit.edu	37	6	31685399	31685399	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7684-01A-11D-2253-08	TCGA-HT-7684-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a568f27-c888-41cc-8196-03e138badd58	e5c70770-2bcf-4654-8ed2-c33cd1e09326	g.chr6:31685399G>A	ENST00000503322.1	+	6	970	c.967G>A	c.(967-969)Gcc>Acc	p.A323T	LY6G6D_ENST00000375825.3_Missense_Mutation_p.A74T|LY6G6F_ENST00000556581.1_Missense_Mutation_p.A323T																							CTGCGTCGCAGCCCATCATTG	0.577													74	141					0	0	1	0	0	A	31685399	G	A	31685399	3	1	263	1	0	0	0	0	1	0	0	0	9141	971	34	2	230	2	LY6G6D	6	31685399	Missense_Mutation	SNP	G	TCGA-HT-7684-01A-11D-2253-08		31685399	139429668	9	27518											
DST	667	broad.mit.edu	37	6	56483529	56483529	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7684-01A-11D-2253-08	TCGA-HT-7684-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a568f27-c888-41cc-8196-03e138badd58	e5c70770-2bcf-4654-8ed2-c33cd1e09326	g.chr6:56483529G>A	ENST00000370765.6	-	23	5410	c.5303C>T	c.(5302-5304)aCt>aTt	p.T1768I	DST_ENST00000244364.6_Intron|DST_ENST00000446842.2_Intron|DST_ENST00000370769.4_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000361203.3_Intron|DST_ENST00000370754.5_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000312431.6_Intron	NM_001723.5	NP_001714.1	Q03001	DYST_HUMAN	dystonin	1162					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			ATCATTTTCAGTGATGACTTT	0.358													17	49					0	0	1	0	0	A	56483529	G	A	56483529	3	1	263	1	0	0	0	0	1	0	0	0	4809	1029	36	2	15100	2	DST	6	56483529	Missense_Mutation	SNP	G	TCGA-HT-7684-01A-11D-2253-08	24798130	56483529	114631538	10	27519											
EEF1A1	1915	broad.mit.edu	37	6	74229668	74229668	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7684-01A-11D-2253-08	TCGA-HT-7684-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a568f27-c888-41cc-8196-03e138badd58	e5c70770-2bcf-4654-8ed2-c33cd1e09326	g.chr6:74229668T>C	ENST00000316292.9	-	1	1073	c.82A>G	c.(82-84)Atc>Gtc	p.I28V	EEF1A1_ENST00000309268.6_Missense_Mutation_p.I28V|EEF1A1_ENST00000331523.2_Missense_Mutation_p.I28V	NM_001402.5	NP_001393.1	P68104	EF1A1_HUMAN	eukaryotic translation elongation factor 1 alpha 1	28						cytosol|eukaryotic translation elongation factor 1 complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|prostate(2)|skin(3)	18						CATTTATAGATCAGATGGCCA	0.413													13	36					0	0	1	0	0	C	74229668	T	C	74229668	3	2	263	1	0	0	0	0	1	0	0	0	4949	1435	50	3	1334	3	EEF1A1	6	74229668	Missense_Mutation	SNP	T	TCGA-HT-7684-01A-11D-2253-08	17746139	74229668	96885399	11	27520											
CD36	948	broad.mit.edu	37	7	80286000	80286000	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7684-01A-11D-2253-08	TCGA-HT-7684-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a568f27-c888-41cc-8196-03e138badd58	e5c70770-2bcf-4654-8ed2-c33cd1e09326	g.chr7:80286000G>A	ENST00000435819.1	+	7	949	c.265G>A	c.(265-267)Ggt>Agt	p.G89S	CD36_ENST00000544133.1_Missense_Mutation_p.G89S|CD36_ENST00000534394.1_Missense_Mutation_p.G13S|CD36_ENST00000447544.2_Missense_Mutation_p.G89S|CD36_ENST00000309881.7_Missense_Mutation_p.G89S|CD36_ENST00000433696.2_Missense_Mutation_p.G89S|CD36_ENST00000432207.1_Missense_Mutation_p.G89S|CD36_ENST00000394788.3_Missense_Mutation_p.G89S|CD36_ENST00000538969.1_Missense_Mutation_p.G89S			P16671	CD36_HUMAN	CD36 molecule (thrombospondin receptor)	89					cell adhesion|cGMP-mediated signaling|cholesterol transport|lipid metabolic process|lipid storage|lipoprotein transport|low-density lipoprotein particle clearance|nitric oxide mediated signal transduction|plasma membrane long-chain fatty acid transport|platelet activation|platelet degranulation|positive regulation of cell-matrix adhesion|positive regulation of macrophage derived foam cell differentiation	integral to plasma membrane|membrane fraction|platelet alpha granule membrane	lipid binding|low-density lipoprotein receptor activity|thrombospondin receptor activity|transforming growth factor beta binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(10)|large_intestine(1)|lung(6)|ovary(1)	21						TAAGCAAAGAGGTCCTTATAC	0.398													3	70					0	0	1	0	0	A	80286000	G	A	80286000	3	1	263	1	0	0	0	0	1	0	0	0	3029	1000	35	2	271	2	CD36	7	80286000	Missense_Mutation	SNP	G	TCGA-HT-7684-01A-11D-2253-08		80286000	78852663	12	27521											
SSPO	23145	broad.mit.edu	37	7	149482723	149482723	+	RNA	SNP	C	C	G			TCGA-HT-7684-01A-11D-2253-08	TCGA-HT-7684-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a568f27-c888-41cc-8196-03e138badd58	e5c70770-2bcf-4654-8ed2-c33cd1e09326	g.chr7:149482723C>G	ENST00000378016.2	+	0	3139							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GGCCAGTGGCCTATTCACAGT	0.627													4	7					0	0	1	0	0	G	149482723	C	G	149482723	1	3	263	0	1	0	0	0	0	0	0	0	15245	680	24	4		4	SSPO	7	149482723	RNA	SNP	C	TCGA-HT-7684-01A-11D-2253-08	69196723	149482723	9655940	13	27522											
KIF13B	23303	broad.mit.edu	37	8	29039519	29039519	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7684-01A-11D-2253-08	TCGA-HT-7684-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a568f27-c888-41cc-8196-03e138badd58	e5c70770-2bcf-4654-8ed2-c33cd1e09326	g.chr8:29039519G>A	ENST00000524189.1	-	7	540	c.502C>T	c.(502-504)Cgt>Tgt	p.R168C	KIF13B_ENST00000521515.1_Missense_Mutation_p.R168C	NM_015254.3	NP_056069.2	Q9NQT8	KI13B_HUMAN	kinesin family member 13B	168	Kinesin-motor.				microtubule-based movement|protein targeting|signal transduction|T cell activation	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein kinase binding			endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		AACGTCTGACGGCTTCTGTTC	0.373													3	39					0	0	1	0	0	A	29039519	G	A	29039519	3	1	263	1	0	0	0	0	1	0	0	0	8317	1116	39	1	5114	1	KIF13B	8	29039519	Missense_Mutation	SNP	G	TCGA-HT-7684-01A-11D-2253-08		29039519	117324503	14	27523											
PCSK5	5125	broad.mit.edu	37	9	78790136	78790136	+	Missense_Mutation	SNP	T	T	C	rs62556589		TCGA-HT-7684-01A-11D-2253-08	TCGA-HT-7684-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a568f27-c888-41cc-8196-03e138badd58	e5c70770-2bcf-4654-8ed2-c33cd1e09326	g.chr9:78790136T>C	ENST00000376767.3	+	14	2503	c.1991T>C	c.(1990-1992)aTg>aCg	p.M664T	PCSK5_ENST00000376752.4_Intron|PCSK5_ENST00000545128.1_Intron			Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	0	CRM (Cys-rich motif).				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						tggaatggaatgaaatggaat	0.423													4	13					0	0	1	0	0	C	78790136	T	C	78790136	3	2	263	1	0	0	0	0	1	0	0	0	11650	1479	51	3		3	PCSK5	9	78790136	Missense_Mutation	SNP	T	TCGA-HT-7684-01A-11D-2253-08		78790136	62423295	15	27524											
NOL8	55035	broad.mit.edu	37	9	95077012	95077012	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7684-01A-11D-2253-08	TCGA-HT-7684-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a568f27-c888-41cc-8196-03e138badd58	e5c70770-2bcf-4654-8ed2-c33cd1e09326	g.chr9:95077012T>C	ENST00000545558.1	-	7	2387	c.1895A>G	c.(1894-1896)cAt>cGt	p.H632R	NOL8_ENST00000358855.4_Missense_Mutation_p.H564R|NOL8_ENST00000442668.2_Missense_Mutation_p.H632R|NOL8_ENST00000535387.1_Missense_Mutation_p.H632R|NOL8_ENST00000542053.1_Missense_Mutation_p.H564R			Q76FK4	NOL8_HUMAN	nucleolar protein 8	632					DNA replication|positive regulation of cell growth	nucleolus	nucleotide binding|protein binding|RNA binding			endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	16						CTTCTTTGCATGTTGGCATGG	0.453													5	10					0	0	1	0	0	C	95077012	T	C	95077012	3	2	263	1	0	0	0	0	1	0	0	0	10574	1464	51	3	1652	3	NOL8	9	95077012	Missense_Mutation	SNP	T	TCGA-HT-7684-01A-11D-2253-08	16286876	95077012	46136419	16	27525											
TBC1D2	55357	broad.mit.edu	37	9	100991314	100991314	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7684-01A-11D-2253-08	TCGA-HT-7684-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a568f27-c888-41cc-8196-03e138badd58	e5c70770-2bcf-4654-8ed2-c33cd1e09326	g.chr9:100991314G>A	ENST00000375066.5	-	5	989	c.898C>T	c.(898-900)Cgg>Tgg	p.R300W	TBC1D2_ENST00000493589.2_5'UTR|TBC1D2_ENST00000375064.1_Missense_Mutation_p.R300W|TBC1D2_ENST00000342112.5_Missense_Mutation_p.R82W	NM_018421.3	NP_060891.3	Q9BYX2	TBD2A_HUMAN	TBC1 domain family, member 2	300	Interaction with RAC1.					cell junction|cytoplasmic membrane-bounded vesicle|nucleus	Rab GTPase activator activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)		GTTCGGTTCCGTGTGATTCCT	0.522													11	34					0	0	1	0	0	A	100991314	G	A	100991314	3	1	263	1	0	0	0	0	1	0	0	0	15665	1144	40	1	1891	1	TBC1D2	9	100991314	Missense_Mutation	SNP	G	TCGA-HT-7684-01A-11D-2253-08	5914302	100991314	40222117	17	27526											
OR13D1	286365	broad.mit.edu	37	9	107456818	107456818	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-7684-01A-11D-2253-08	TCGA-HT-7684-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a568f27-c888-41cc-8196-03e138badd58	e5c70770-2bcf-4654-8ed2-c33cd1e09326	g.chr9:107456818C>G	ENST00000318763.5	+	1	159	c.116C>G	c.(115-117)tCt>tGt	p.S39C		NM_001004484.1	NP_001004484.1	Q8NGV5	O13D1_HUMAN	olfactory receptor, family 13, subfamily D, member 1	39					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(4)|lung(10)|ovary(1)|prostate(2)|skin(2)	19						AGAAATTACTCTGCCATGACT	0.423													7	24					0	0	1	0	0	G	107456818	C	G	107456818	3	3	263	1	0	0	0	0	1	0	0	0	10988	913	32	4	118	4	OR13D1	9	107456818	Missense_Mutation	SNP	C	TCGA-HT-7684-01A-11D-2253-08	6465504	107456818	33756613	18	27527											
MUSK	4593	broad.mit.edu	37	9	113562782	113562782	+	Missense_Mutation	SNP	G	G	C			TCGA-HT-7684-01A-11D-2253-08	TCGA-HT-7684-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a568f27-c888-41cc-8196-03e138badd58	e5c70770-2bcf-4654-8ed2-c33cd1e09326	g.chr9:113562782G>C	ENST00000416899.2	+	13	2226	c.2100G>C	c.(2098-2100)caG>caC	p.Q700H	MUSK_ENST00000374448.4_Missense_Mutation_p.Q708H|MUSK_ENST00000189978.5_Missense_Mutation_p.Q708H			O15146	MUSK_HUMAN	muscle, skeletal, receptor tyrosine kinase	708	Protein kinase.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						TTGCCAGGCAGGTGGCAGCTG	0.567													28	94					0	0	1	0	0	C	113562782	G	C	113562782	3	2	263	1	0	0	0	0	1	0	0	0	10037	991	35	4	2214	4	MUSK	9	113562782	Missense_Mutation	SNP	G	TCGA-HT-7684-01A-11D-2253-08	6105964	113562782	27650649	19	27528											
PTGS1	5742	broad.mit.edu	37	9	125154668	125154668	+	Missense_Mutation	SNP	T	T	G			TCGA-HT-7684-01A-11D-2253-08	TCGA-HT-7684-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a568f27-c888-41cc-8196-03e138badd58	e5c70770-2bcf-4654-8ed2-c33cd1e09326	g.chr9:125154668T>G	ENST00000362012.2	+	11	1650	c.1645T>G	c.(1645-1647)Ttt>Gtt	p.F549V	PTGS1_ENST00000223423.4_Missense_Mutation_p.F512V|PTGS1_ENST00000373698.5_Missense_Mutation_p.F440V|PTGS1_ENST00000540753.1_Missense_Mutation_p.F487V	NM_000962.3|NM_001271164.1|NM_001271367.1|NM_080591.2	NP_000953.2|NP_001258093.1|NP_001258296.1|NP_542158.1	P23219	PGH1_HUMAN	prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase)	549					cyclooxygenase pathway|hormone biosynthetic process|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum membrane|Golgi apparatus|microsome|plasma membrane	heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity			large_intestine(3)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	8					Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dipyrone(DB04817)|Etodolac(DB00749)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Mesalazine(DB00244)|Minoxidil(DB00350)|Nabumetone(DB00461)|Naproxen(DB00788)|Phenacetin(DB03783)|Piroxicam(DB00554)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Tolmetin(DB00500)	GCCGAGCACATTTGGCGGCGA	0.537													20	53					0	0	1	0	0	G	125154668	T	G	125154668	3	3	263	1	0	0	0	0	1	0	0	0	12805	1493	52	4	1687	4	PTGS1	9	125154668	Missense_Mutation	SNP	T	TCGA-HT-7684-01A-11D-2253-08	11591886	125154668	16058763	20	27529											
SERPING1	710	broad.mit.edu	37	11	57367766	57367766	+	Missense_Mutation	SNP	G	G	A	rs139035354	by1000genomes	TCGA-HT-7684-01A-11D-2253-08	TCGA-HT-7684-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a568f27-c888-41cc-8196-03e138badd58	e5c70770-2bcf-4654-8ed2-c33cd1e09326	g.chr11:57367766G>A	ENST00000403558.1	+	2	934	c.568G>A	c.(568-570)Gcc>Acc	p.A190T	SERPING1_ENST00000378323.4_Missense_Mutation_p.A161T|SERPING1_ENST00000378324.2_Missense_Mutation_p.A104T|SERPING1_ENST00000278407.4_Missense_Mutation_p.A156T|SERPING1_ENST00000340687.6_Missense_Mutation_p.A156T	NM_001032295.1	NP_001027466.1	P05155	IC1_HUMAN	serpin peptidase inhibitor, clade G (C1 inhibitor), member 1	156					blood circulation|blood coagulation, intrinsic pathway|complement activation, classical pathway|innate immune response|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation	extracellular space|platelet alpha granule lumen	protein binding|serine-type endopeptidase inhibitor activity	p.A156T(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(1)	27						GCTCTACCACGCCTTCTCAGC	0.542													49	62					0	0	1	0	0	A	57367766	G	A	57367766	3	1	263	1	0	0	0	0	1	0	0	0	14170	1087	38	1	472	1	SERPING1	11	57367766	Missense_Mutation	SNP	G	TCGA-HT-7684-01A-11D-2253-08		57367766	77638750	21	27530											
MS4A14	84689	broad.mit.edu	37	11	60183353	60183353	+	Silent	SNP	T	T	C			TCGA-HT-7684-01A-11D-2253-08	TCGA-HT-7684-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a568f27-c888-41cc-8196-03e138badd58	e5c70770-2bcf-4654-8ed2-c33cd1e09326	g.chr11:60183353T>C	ENST00000300187.6	+	5	1189	c.912T>C	c.(910-912)ttT>ttC	p.F304F	MS4A14_ENST00000395005.2_Silent_p.F287F|MS4A14_ENST00000395001.1_3'UTR|MS4A14_ENST00000531783.1_Silent_p.F337F|MS4A14_ENST00000531787.1_Silent_p.F192F	NM_032597.4	NP_115986.3	Q96JA4	M4A14_HUMAN	membrane-spanning 4-domains, subfamily A, member 14	304						integral to membrane	receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	62						TCCAAGTTTTTCCATCCCATT	0.423													23	26					0	0	1	0	0	C	60183353	T	C	60183353	2	2	263	1	0	0	0	0	0	0	0	1	9907	1780	62	3		3	MS4A14	11	60183353	Silent	SNP	T	TCGA-HT-7684-01A-11D-2253-08	2815587	60183353	74823163	22	27531											
CHORDC1	26973	broad.mit.edu	37	11	89947220	89947220	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7684-01A-11D-2253-08	TCGA-HT-7684-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a568f27-c888-41cc-8196-03e138badd58	e5c70770-2bcf-4654-8ed2-c33cd1e09326	g.chr11:89947220C>T	ENST00000320585.6	-	4	704	c.295G>A	c.(295-297)Gcc>Acc	p.A99T	CHORDC1_ENST00000457199.2_Missense_Mutation_p.A80T|CHORDC1_ENST00000530765.1_Missense_Mutation_p.A99T	NM_012124.2	NP_036256.2	Q9UHD1	CHRD1_HUMAN	cysteine and histidine-rich domain (CHORD) containing 1	99	Interaction with HSP90AA1 and HSP90AB1 (By similarity).				chaperone-mediated protein folding|regulation of response to stress|response to stress		Hsp90 protein binding|identical protein binding			endometrium(2)|large_intestine(2)|liver(1)|lung(6)	11		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.00915)				GGCTTAGGGGCTTGAATGATG	0.393													5	104					0	0	1	0	0	T	89947220	C	T	89947220	3	4	263	1	0	0	0	0	1	0	0	0	3387	797	28	2	735	2	CHORDC1	11	89947220	Missense_Mutation	SNP	C	TCGA-HT-7684-01A-11D-2253-08	29763867	89947220	45059296	23	27532											
TMTC1	83857	broad.mit.edu	37	12	29659825	29659825	+	Missense_Mutation	SNP	C	C	T	rs35279918		TCGA-HT-7684-01A-11D-2253-08	TCGA-HT-7684-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a568f27-c888-41cc-8196-03e138badd58	e5c70770-2bcf-4654-8ed2-c33cd1e09326	g.chr12:29659825C>T	ENST00000256062.5	-	18	2752	c.2279G>A	c.(2278-2280)cGc>cAc	p.R760H	TMTC1_ENST00000319685.8_5'UTR|TMTC1_ENST00000552618.1_Missense_Mutation_p.R892H|TMTC1_ENST00000551659.1_Missense_Mutation_p.R930H|TMTC1_ENST00000539277.1_Missense_Mutation_p.R868H	NM_175861.3	NP_787057.2	Q8IUR5	TMTC1_HUMAN	transmembrane and tetratricopeptide repeat containing 1	868						integral to membrane	binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)					TTTTTCTAGGCGATCCAATTT	0.453													25	59					0	0	1	0	0	T	29659825	C	T	29659825	3	4	263	1	0	0	0	0	1	0	0	0	16320	768	27	1	49	1	TMTC1	12	29659825	Missense_Mutation	SNP	C	TCGA-HT-7684-01A-11D-2253-08		29659825	104192070	24	27533											
EP400	57634	broad.mit.edu	37	12	132547141	132547141	+	Silent	SNP	G	G	A			TCGA-HT-7684-01A-11D-2253-08	TCGA-HT-7684-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a568f27-c888-41cc-8196-03e138badd58	e5c70770-2bcf-4654-8ed2-c33cd1e09326	g.chr12:132547141G>A	ENST00000333577.4	+	48	8446	c.8337G>A	c.(8335-8337)caG>caA	p.Q2779Q	EP400_ENST00000332482.4_Silent_p.Q2706Q|EP400_ENST00000389561.2_Silent_p.Q2743Q|EP400_ENST00000330386.6_Silent_p.Q2662Q|EP400_ENST00000389562.2_Silent_p.Q2742Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2779	Interaction with ZNF42 (By similarity).|Poly-Gln.				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	p.Q2742Q(2)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcaacagcagcagcagc	0.597													3	27					0	0	1	0	0	A	132547141	G	A	132547141	2	1	263	1	0	0	0	0	0	0	0	1	5177	962	34	2		2	EP400	12	132547141	Silent	SNP	G	TCGA-HT-7684-01A-11D-2253-08	102887316	132547141	1304754	25	27534											
DCLK1	9201	broad.mit.edu	37	13	36686247	36686247	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7684-01A-11D-2253-08	TCGA-HT-7684-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a568f27-c888-41cc-8196-03e138badd58	e5c70770-2bcf-4654-8ed2-c33cd1e09326	g.chr13:36686247C>T	ENST00000255448.4	-	3	693	c.482G>A	c.(481-483)cGg>cAg	p.R161Q	DCLK1_ENST00000379892.4_Missense_Mutation_p.R161Q|DCLK1_ENST00000360631.3_Missense_Mutation_p.R161Q	NM_004734.4	NP_004725.1	O15075	DCLK1_HUMAN	doublecortin-like kinase 1	161					cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus	integral to plasma membrane	ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		AGACACTGCCCGAGAAGCCGA	0.522													13	36					0	0	1	0	0	T	36686247	C	T	36686247	3	4	263	1	0	0	0	0	1	0	0	0	4314	652	23	1	1771	1	DCLK1	13	36686247	Missense_Mutation	SNP	C	TCGA-HT-7684-01A-11D-2253-08		36686247	78483631	26	27535											
DIS3	22894	broad.mit.edu	37	13	73346337	73346337	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7684-01A-11D-2253-08	TCGA-HT-7684-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a568f27-c888-41cc-8196-03e138badd58	e5c70770-2bcf-4654-8ed2-c33cd1e09326	g.chr13:73346337T>C	ENST00000377767.4	-	10	1563	c.1463A>G	c.(1462-1464)gAt>gGt	p.D488G	DIS3_ENST00000545453.1_Missense_Mutation_p.D326G|DIS3_ENST00000377780.4_Missense_Mutation_p.D458G	NM_014953.3	NP_055768.3	Q9Y2L1	RRP44_HUMAN	DIS3 mitotic control homolog (S. cerevisiae)	488					CUT catabolic process|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA catabolic process|rRNA processing	cytosol|exosome (RNase complex)|nucleolus|nucleoplasm	3'-5'-exoribonuclease activity|endonuclease activity|guanyl-nucleotide exchange factor activity|protein binding|RNA binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(7)|kidney(5)|large_intestine(10)|lung(6)|prostate(2)|skin(1)	35		Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195)		GBM - Glioblastoma multiforme(99;0.000181)		ATGTAGAGCATCGTCTATATC	0.363										Multiple Myeloma(4;0.011)			15	23					0	0	1	0	0	C	73346337	T	C	73346337	3	2	263	1	0	0	0	0	1	0	0	0	4563	1435	50	3	1461	3	DIS3	13	73346337	Missense_Mutation	SNP	T	TCGA-HT-7684-01A-11D-2253-08	36660090	73346337	41823541	27	27536											
MYCBP2	23077	broad.mit.edu	37	13	77807397	77807397	+	Splice_Site	SNP	G	G	C			TCGA-HT-7684-01A-11D-2253-08	TCGA-HT-7684-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a568f27-c888-41cc-8196-03e138badd58	e5c70770-2bcf-4654-8ed2-c33cd1e09326	g.chr13:77807397G>C	ENST00000407578.2	-	18	2897	c.2631C>G	c.(2629-2631)ggC>ggG	p.G877G	MYCBP2_ENST00000357337.6_Splice_Site_p.G839G|MYCBP2_ENST00000544440.2_Splice_Site_p.G839G|MYCBP2_ENST00000360084.5_5'UTR	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	839					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		ATACAAGGGGGCCTGAGGAGA	0.363													3	31					0	0	1	0	0	C	77807397	G	C	77807397	5	2	263	1	0	0	0	0	0	0	1	0	10066	1217	42	5	11669	5	MYCBP2	13	77807397	Splice_Site	SNP	G	TCGA-HT-7684-01A-11D-2253-08	4461060	77807397	37362481	28	27537											
FOXG1	2290	broad.mit.edu	37	14	29237034	29237034	+	Silent	SNP	G	G	A			TCGA-HT-7684-01A-11D-2253-08	TCGA-HT-7684-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a568f27-c888-41cc-8196-03e138badd58	e5c70770-2bcf-4654-8ed2-c33cd1e09326	g.chr14:29237034G>A	ENST00000382535.3	+	2	918	c.549G>A	c.(547-549)ccG>ccA	p.P183P	FOXG1_ENST00000313071.4_Silent_p.P183P			P55316	FOXG1_HUMAN	forkhead box G1	183				P -> PP (in Ref. 1; CAA52241).	axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(2)	43			LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)		AGAAGCCGCCGTTCAGCTACA	0.637													8	16					0	0	1	0	0	A	29237034	G	A	29237034	2	1	263	1	0	0	0	0	0	0	0	1	6041	1132	40	1		1	FOXG1	14	29237034	Silent	SNP	G	TCGA-HT-7684-01A-11D-2253-08		29237034	78112506	29	27538											
KLHL28	54813	broad.mit.edu	37	14	45415078	45415078	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HT-7684-01A-11D-2253-08	TCGA-HT-7684-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a568f27-c888-41cc-8196-03e138badd58	e5c70770-2bcf-4654-8ed2-c33cd1e09326	g.chr14:45415078delA	ENST00000396128.4	-	2	173	c.54delT	c.(52-54)tctfs	p.S18fs	KLHL28_ENST00000355081.2_Frame_Shift_Del_p.S32fs	NM_017658.3	NP_060128.2	Q9NXS3	KLH28_HUMAN	kelch-like family member 28	18										breast(2)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						GAAGTTGTTCAGAATGCAAGT	0.403													21	60	---	---	---	---						-	45415078	A	-	45415078	7	5	263	1	0	1	0	1	0	0	0	0	8425	175	7	0	1677	0	KLHL28	14	45415078	Frame_Shift_Del	DEL	A	TCGA-HT-7684-01A-11D-2253-08	16178044	45415078	61934462	30	27539											
SYNE2	23224	broad.mit.edu	37	14	64676802	64676802	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7684-01A-11D-2253-08	TCGA-HT-7684-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a568f27-c888-41cc-8196-03e138badd58	e5c70770-2bcf-4654-8ed2-c33cd1e09326	g.chr14:64676802A>G	ENST00000357395.3	+	104	18982	c.7838A>G	c.(7837-7839)aAc>aGc	p.N2613S	SYNE2_ENST00000344113.4_Missense_Mutation_p.N6228S|SYNE2_ENST00000555022.1_Missense_Mutation_p.N106S|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000554805.1_Missense_Mutation_p.N11S|SYNE2_ENST00000555002.1_Missense_Mutation_p.N2862S|SYNE2_ENST00000358025.3_Missense_Mutation_p.N6228S|SYNE2_ENST00000394768.2_Missense_Mutation_p.N2613S|SYNE2_ENST00000554584.1_Missense_Mutation_p.N6187S			Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	6228					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		CGCTGGGACAACCTTCAGAGG	0.622													7	15					0	0	1	0	0	G	64676802	A	G	64676802	3	3	263	1	0	0	0	0	1	0	0	0	15503	43	2	3	19089	3	SYNE2	14	64676802	Missense_Mutation	SNP	A	TCGA-HT-7684-01A-11D-2253-08	19261724	64676802	42672738	31	27540											
ISM2	145501	broad.mit.edu	37	14	77942239	77942239	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7684-01A-11D-2253-08	TCGA-HT-7684-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a568f27-c888-41cc-8196-03e138badd58	e5c70770-2bcf-4654-8ed2-c33cd1e09326	g.chr14:77942239G>A	ENST00000393684.3	-	8	1542	c.1151C>T	c.(1150-1152)gCg>gTg	p.A384V	ISM2_ENST00000342219.4_Missense_Mutation_p.A472V|ISM2_ENST00000429906.1_Missense_Mutation_p.A391V|ISM2_ENST00000493585.1_3'UTR|ISM2_ENST00000412904.1_Missense_Mutation_p.A391V			Q6H9L7	ISM2_HUMAN	isthmin 2	472						extracellular region				endometrium(3)|large_intestine(4)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	21						GCAGAAGCGCGCCGTGGGCTG	0.677													7	22					0	0	1	0	0	A	77942239	G	A	77942239	3	1	263	1	0	0	0	0	1	0	0	0	7905	1087	38	1	304	1	ISM2	14	77942239	Missense_Mutation	SNP	G	TCGA-HT-7684-01A-11D-2253-08	13265437	77942239	29407301	32	27541											
AKAP13	11214	broad.mit.edu	37	15	86287025	86287025	+	Silent	SNP	G	G	A			TCGA-HT-7684-01A-11D-2253-08	TCGA-HT-7684-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a568f27-c888-41cc-8196-03e138badd58	e5c70770-2bcf-4654-8ed2-c33cd1e09326	g.chr15:86287025G>A	ENST00000394518.2	+	36	8456	c.8361G>A	c.(8359-8361)aaG>aaA	p.K2787K	AKAP13_ENST00000560579.1_3'UTR|AKAP13_ENST00000394510.2_Silent_p.K1032K|AKAP13_ENST00000361243.2_Silent_p.K2791K	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	2787	Interaction with ESR1.|Poly-Lys.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						AGAAAAAAAAGAAGAACAAAA	0.532													5	27					0	0	1	0	0	A	86287025	G	A	86287025	2	1	263	1	0	0	0	0	0	0	0	1	446	933	33	2		2	AKAP13	15	86287025	Silent	SNP	G	TCGA-HT-7684-01A-11D-2253-08		86287025	16244367	33	27542											
IQGAP1	8826	broad.mit.edu	37	15	91034589	91034589	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HT-7684-01A-11D-2253-08	TCGA-HT-7684-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a568f27-c888-41cc-8196-03e138badd58	e5c70770-2bcf-4654-8ed2-c33cd1e09326	g.chr15:91034589C>T	ENST00000268182.5	+	34	4397	c.4273C>T	c.(4273-4275)Cag>Tag	p.Q1425*	IQGAP1_ENST00000560738.1_Nonsense_Mutation_p.Q853*	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	1425	C2.				energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction	actin filament|cytoplasm|midbody|nucleus|plasma membrane	calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity			breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			GAGAGCCATGCAGAGACGTGC	0.398													4	23					0	0	1	0	0	T	91034589	C	T	91034589	4	4	263	1	0	0	0	0	0	1	0	0	7858	711	25	2	4407	2	IQGAP1	15	91034589	Nonsense_Mutation	SNP	C	TCGA-HT-7684-01A-11D-2253-08	4747564	91034589	11496803	34	27543											
EFTUD2	9343	broad.mit.edu	37	17	42931994	42931994	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7684-01A-11D-2253-08	TCGA-HT-7684-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a568f27-c888-41cc-8196-03e138badd58	e5c70770-2bcf-4654-8ed2-c33cd1e09326	g.chr17:42931994C>T	ENST00000426333.2	-	22	2486	c.2189G>A	c.(2188-2190)cGt>cAt	p.R730H	EFTUD2_ENST00000592576.1_Missense_Mutation_p.R720H|EFTUD2_ENST00000591382.1_Missense_Mutation_p.R730H|EFTUD2_ENST00000402521.3_Missense_Mutation_p.R695H	NM_001142605.1|NM_001258354.1|NM_004247.3	NP_001136077.1|NP_001245283.1|NP_004238.3	Q15029	U5S1_HUMAN	elongation factor Tu GTP binding domain containing 2	730						Cajal body|catalytic step 2 spliceosome|cytoplasm|nuclear speck	GTP binding|GTPase activity|protein binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	32		Prostate(33;0.109)				CCAGATGGAACGGGCAGCCAG	0.567													17	29					0	0	1	0	0	T	42931994	C	T	42931994	3	4	263	1	0	0	0	0	1	0	0	0	4987	536	19	1	757	1	EFTUD2	17	42931994	Missense_Mutation	SNP	C	TCGA-HT-7684-01A-11D-2253-08		42931994	38263216	35	27544											
USP32	84669	broad.mit.edu	37	17	58378974	58378975	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-HT-7684-01A-11D-2253-08	TCGA-HT-7684-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a568f27-c888-41cc-8196-03e138badd58	e5c70770-2bcf-4654-8ed2-c33cd1e09326	g.chr17:58378974_58378975delTC	ENST00000300896.4	-	3	471_472	c.277_278delGA	c.(277-279)gaafs	p.E94fs	USP32_ENST00000586881.1_5'UTR|USP32_ENST00000393003.3_Frame_Shift_Del_p.E94fs	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	ubiquitin specific peptidase 32	94	EF-hand 1.				protein deubiquitination|ubiquitin-dependent protein catabolic process	Golgi apparatus|membrane	calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			TGCTTTCTCTTCATCTTTGCCT	0.332													8	22	---	---	---	---						-	58378975	TC	-	58378974	7	5	263	1	0	1	0	1	0	0	0	0	17123	1783	62	0	4664	0	USP32	17	58378974	Frame_Shift_Del	DEL	TC	TCGA-HT-7684-01A-11D-2253-08	15446980	58378974	22816236	36	27545											
TTYH2	94015	broad.mit.edu	37	17	72249349	72249349	+	Silent	SNP	G	G	A			TCGA-HT-7684-01A-11D-2253-08	TCGA-HT-7684-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a568f27-c888-41cc-8196-03e138badd58	e5c70770-2bcf-4654-8ed2-c33cd1e09326	g.chr17:72249349G>A	ENST00000441391.2	+	6	1638	c.426G>A	c.(424-426)caG>caA	p.Q142Q	TTYH2_ENST00000269346.4_Silent_p.Q463Q|TTYH2_ENST00000529107.1_Silent_p.Q442Q	NM_052869.1	NP_443101.1	Q9BSA4	TTYH2_HUMAN	tweety family member 2	463						chloride channel complex|plasma membrane	chloride channel activity|protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(14)|ovary(3)|pancreas(1)|stomach(3)|upper_aerodigestive_tract(1)	36						TGGGAAGTCAGACCAGCCTGC	0.647													15	54					0	0	1	0	0	A	72249349	G	A	72249349	2	1	263	1	0	0	0	0	0	0	0	1	16802	933	33	2		2	TTYH2	17	72249349	Silent	SNP	G	TCGA-HT-7684-01A-11D-2253-08	13870375	72249349	8945861	37	27546											
EVPL	2125	broad.mit.edu	37	17	74003681	74003681	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7684-01A-11D-2253-08	TCGA-HT-7684-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a568f27-c888-41cc-8196-03e138badd58	e5c70770-2bcf-4654-8ed2-c33cd1e09326	g.chr17:74003681C>T	ENST00000301607.3	-	22	5858	c.5605G>A	c.(5605-5607)Gtg>Atg	p.V1869M	EVPL_ENST00000586740.1_Missense_Mutation_p.V1891M	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	1869	Globular 2.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						AGCAGGTCCACGATGCCCCCT	0.617													4	45					0	0	1	0	0	T	74003681	C	T	74003681	3	4	263	1	0	0	0	0	1	0	0	0	5320	536	19	1	500	1	EVPL	17	74003681	Missense_Mutation	SNP	C	TCGA-HT-7684-01A-11D-2253-08	1754332	74003681	7191529	38	27547											
C3	718	broad.mit.edu	37	19	6712560	6712560	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7684-01A-11D-2253-08	TCGA-HT-7684-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a568f27-c888-41cc-8196-03e138badd58	e5c70770-2bcf-4654-8ed2-c33cd1e09326	g.chr19:6712560T>C	ENST00000245907.6	-	10	1170	c.1078A>G	c.(1078-1080)Aca>Gca	p.T360A		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	360					complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		TACTTGGGTGTCTTGGTGAAG	0.622													13	171					0	0	1	0	0	C	6712560	T	C	6712560	3	2	263	1	0	0	0	0	1	0	0	0	2218	1667	58	3	4041	3	C3	19	6712560	Missense_Mutation	SNP	T	TCGA-HT-7684-01A-11D-2253-08		6712560	52416423	39	27548											
LYPD4	147719	broad.mit.edu	37	19	42341280	42341280	+	Silent	SNP	T	T	G			TCGA-HT-7684-01A-11D-2253-08	TCGA-HT-7684-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a568f27-c888-41cc-8196-03e138badd58	e5c70770-2bcf-4654-8ed2-c33cd1e09326	g.chr19:42341280T>G	ENST00000330743.3	-	5	1889	c.678A>C	c.(676-678)gcA>gcC	p.A226A	LYPD4_ENST00000601246.1_Silent_p.A191A|LYPD4_ENST00000343055.4_Silent_p.A191A	NM_173506.4	NP_775777.3	Q6UWN0	LYPD4_HUMAN	LY6/PLAUR domain containing 4	226						anchored to membrane|plasma membrane				breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(2)	12						GCCTGGAGGATGCTGCACCAA	0.493													3	60					0	0	1	0	0	G	42341280	T	G	42341280	2	3	263	1	0	0	0	0	0	0	0	1	9158	1451	51	4		4	LYPD4	19	42341280	Silent	SNP	T	TCGA-HT-7684-01A-11D-2253-08	35628720	42341280	16787703	40	27549											
DLGAP4	22839	broad.mit.edu	37	20	35060961	35060961	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-7684-01A-11D-2253-08	TCGA-HT-7684-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a568f27-c888-41cc-8196-03e138badd58	e5c70770-2bcf-4654-8ed2-c33cd1e09326	g.chr20:35060961G>T	ENST00000373913.3	+	3	1321	c.841G>T	c.(841-843)Ggg>Tgg	p.G281W	DLGAP4_ENST00000373907.2_Missense_Mutation_p.G281W|DLGAP4_ENST00000339266.5_Missense_Mutation_p.G281W|DLGAP4_ENST00000401952.2_Missense_Mutation_p.G281W			Q9Y2H0	DLGP4_HUMAN	discs, large (Drosophila) homolog-associated protein 4	281					cell-cell signaling	membrane	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				CCCCAGCCTTGGGGTGGGCAC	0.632													11	7					0.00010058	0.000102514	1	1	0	T	35060961	G	T	35060961	3	4	263	1	0	0	0	0	1	0	0	0	4590	1348	47	5	843	5	DLGAP4	20	35060961	Missense_Mutation	SNP	G	TCGA-HT-7684-01A-11D-2253-08		35060961	27964559	41	27550											
HCCS	3052	broad.mit.edu	37	X	11135492	11135492	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7684-01A-11D-2253-08	TCGA-HT-7684-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a568f27-c888-41cc-8196-03e138badd58	e5c70770-2bcf-4654-8ed2-c33cd1e09326	g.chrX:11135492T>C	ENST00000321143.4	+	4	560	c.358T>C	c.(358-360)Tac>Cac	p.Y120H	HCCS_ENST00000380763.3_Missense_Mutation_p.Y120H|HCCS_ENST00000380762.4_Missense_Mutation_p.Y120H	NM_001122608.2|NM_001171991.2|NM_005333.4	NP_001116080.1|NP_001165462.1|NP_005324.3	P53701	CCHL_HUMAN	holocytochrome c synthase	120					organ morphogenesis|oxidation-reduction process	mitochondrial inner membrane	holocytochrome-c synthase activity|metal ion binding			kidney(1)|large_intestine(3)|lung(3)	7						AAAGTGGGTTTACCCTTCTGA	0.383													37	21					0	0	1	0	0	C	11135492	T	C	11135492	3	2	263	1	0	0	0	0	1	0	0	0	7031	1754	61	3	368	3	HCCS	23	11135492	Missense_Mutation	SNP	T	TCGA-HT-7684-01A-11D-2253-08		11135492	144135068	42	27551											
PRDM16	63976	broad.mit.edu	37	1	3342279	3342279	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7686-01A-11D-2253-08	TCGA-HT-7686-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22530a76-c1dd-4ff9-8503-ffcce2eeda5a	5cd72590-fbad-4fde-a315-5b5862bdddbf	g.chr1:3342279G>A	ENST00000378398.3	+	14	3156	c.3074G>A	c.(3073-3075)cGg>cAg	p.R1025Q	PRDM16_ENST00000442529.2_Missense_Mutation_p.R1024Q|PRDM16_ENST00000511072.1_Missense_Mutation_p.R1026Q|PRDM16_ENST00000514189.1_Missense_Mutation_p.R1025Q|PRDM16_ENST00000441472.2_Missense_Mutation_p.R1024Q|PRDM16_ENST00000270722.5_Missense_Mutation_p.R1025Q|PRDM16_ENST00000512462.1_3'UTR|PRDM16_ENST00000378391.2_Missense_Mutation_p.R1025Q			Q9HAZ2	PRD16_HUMAN	PR domain containing 16	1025	Interaction with CTBP1 and CTBP2 (By similarity).|Mediates interaction with SKI and regulation of TGF-beta signaling.				brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		AACCTGGACCGGCACCTCAAG	0.662			T	EVI1	"MDS, AML"								13	121					0	0	1	0	0	A	3342279	G	A	3342279	3	1	264	1	0	0	0	0	1	0	0	0	12509	1116	39	1	3124	1	PRDM16	1	3342279	Missense_Mutation	SNP	G	TCGA-HT-7686-01A-11D-2253-08		3342279	245908342	1	27552											
TUBA3D	113457	broad.mit.edu	37	2	132238149	132238149	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HT-7686-01A-11D-2253-08	TCGA-HT-7686-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22530a76-c1dd-4ff9-8503-ffcce2eeda5a	5cd72590-fbad-4fde-a315-5b5862bdddbf	g.chr2:132238149delT	ENST00000321253.6	+	4	990	c.883delT	c.(883-885)tgcfs	p.C295fs		NM_080386.3	NP_525125.2	Q13748	TBA3C_HUMAN	tubulin, alpha 3d	295					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32				BRCA - Breast invasive adenocarcinoma(221;0.13)		CACCAATGCCTGCTTCGAGCC	0.597													10	285	---	---	---	---						-	132238149	T	-	132238149	7	5	264	1	0	1	0	1	0	0	0	0	16809	1580	55	0	897	0	TUBA3D	2	132238149	Frame_Shift_Del	DEL	T	TCGA-HT-7686-01A-11D-2253-08		132238149	110961224	2	27553											
COBLL1	22837	broad.mit.edu	37	2	165550871	165550871	+	Missense_Mutation	SNP	C	C	A			TCGA-HT-7686-01A-11D-2253-08	TCGA-HT-7686-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22530a76-c1dd-4ff9-8503-ffcce2eeda5a	5cd72590-fbad-4fde-a315-5b5862bdddbf	g.chr2:165550871C>A	ENST00000375458.2	-	11	3252	c.3031G>T	c.(3031-3033)Gca>Tca	p.A1011S	COBLL1_ENST00000392717.2_Missense_Mutation_p.A1087S|COBLL1_ENST00000342193.4_Missense_Mutation_p.A1049S|COBLL1_ENST00000194871.6_Missense_Mutation_p.A1116S|COBLL1_ENST00000409184.3_Missense_Mutation_p.A1049S	NM_001278460.1|NM_001278461.1	NP_001265389.1|NP_001265390.1	Q53SF7	COBL1_HUMAN	cordon-bleu WH2 repeat protein-like 1	1087										central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	47						TGGACCAATGCACTGGCACTA	0.473													4	52					0.00909568	0.00930721	1	1	0	A	165550871	C	A	165550871	3	1	264	1	0	0	0	0	1	0	0	0	3677	710	25	5	367	5	COBLL1	2	165550871	Missense_Mutation	SNP	C	TCGA-HT-7686-01A-11D-2253-08	33312722	165550871	77648502	3	27554											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-HT-7686-01A-11D-2253-08	TCGA-HT-7686-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22530a76-c1dd-4ff9-8503-ffcce2eeda5a	5cd72590-fbad-4fde-a315-5b5862bdddbf	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								29	48					0	0	1	0	0	T	209113112	C	T	209113112	3	4	264	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HT-7686-01A-11D-2253-08	43562241	209113112	34086261	4	27555											
PLCH1	23007	broad.mit.edu	37	3	155200712	155200712	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7686-01A-11D-2253-08	TCGA-HT-7686-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22530a76-c1dd-4ff9-8503-ffcce2eeda5a	5cd72590-fbad-4fde-a315-5b5862bdddbf	g.chr3:155200712T>C	ENST00000460012.1	-	23	3370	c.3013A>G	c.(3013-3015)Att>Gtt	p.I1005V	PLCH1_ENST00000414191.1_Missense_Mutation_p.I1005V|PLCH1_ENST00000334686.6_Missense_Mutation_p.I1005V|PLCH1_ENST00000494598.1_Intron|PLCH1_ENST00000340059.7_Missense_Mutation_p.I1043V|PLCH1_ENST00000447496.2_3'UTR			Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	1043					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			GTAGATACAATGGTGTCCCCT	0.458													31	57					0	0	1	0	0	C	155200712	T	C	155200712	3	2	264	1	0	0	0	0	1	0	0	0	12085	1464	51	3	1958	3	PLCH1	3	155200712	Missense_Mutation	SNP	T	TCGA-HT-7686-01A-11D-2253-08		155200712	42821718	5	27556											
ANXA10	11199	broad.mit.edu	37	4	169105805	169105805	+	Silent	SNP	T	T	C			TCGA-HT-7686-01A-11D-2253-08	TCGA-HT-7686-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22530a76-c1dd-4ff9-8503-ffcce2eeda5a	5cd72590-fbad-4fde-a315-5b5862bdddbf	g.chr4:169105805T>C	ENST00000359299.3	+	11	1065	c.879T>C	c.(877-879)taT>taC	p.Y293Y		NM_007193.4	NP_009124.2	Q9UJ72	ANX10_HUMAN	annexin A10	293							calcium ion binding|calcium-dependent phospholipid binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(2)	16		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0325)		AAGAGCGATATGGAAAATCCC	0.353													52	78					0	0	1	0	0	C	169105805	T	C	169105805	2	2	264	1	0	0	0	0	0	0	0	1	709	1471	51	3		3	ANXA10	4	169105805	Silent	SNP	T	TCGA-HT-7686-01A-11D-2253-08		169105805	22048471	6	27557											
PRDM9	56979	broad.mit.edu	37	5	23526872	23526872	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7686-01A-11D-2253-08	TCGA-HT-7686-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22530a76-c1dd-4ff9-8503-ffcce2eeda5a	5cd72590-fbad-4fde-a315-5b5862bdddbf	g.chr5:23526872C>T	ENST00000296682.3	+	11	1857	c.1675C>T	c.(1675-1677)Cgg>Tgg	p.R559W		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	559					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	p.R559R(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						GGAGTGTGGGCGGGGCTTTAG	0.527										HNSCC(3;0.000094)			28	72					0	0	1	0	0	T	23526872	C	T	23526872	3	4	264	1	0	0	0	0	1	0	0	0	12515	759	27	1	1713	1	PRDM9	5	23526872	Missense_Mutation	SNP	C	TCGA-HT-7686-01A-11D-2253-08		23526872	157388388	7	27558											
HCN1	348980	broad.mit.edu	37	5	45262356	45262356	+	Silent	SNP	G	G	T			TCGA-HT-7686-01A-11D-2253-08	TCGA-HT-7686-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22530a76-c1dd-4ff9-8503-ffcce2eeda5a	5cd72590-fbad-4fde-a315-5b5862bdddbf	g.chr5:45262356G>T	ENST00000303230.4	-	8	2397	c.2340C>A	c.(2338-2340)acC>acA	p.T780T		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	780						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						TGACTTCCCGGGTCAGGTTGG	0.632													19	32					4.35082e-09	4.90861e-09	1	1	0	T	45262356	G	T	45262356	2	4	264	1	0	0	0	0	0	0	0	1	7037	1219	43	5		5	HCN1	5	45262356	Silent	SNP	G	TCGA-HT-7686-01A-11D-2253-08	21735484	45262356	135652904	8	27559											
DHX29	54505	broad.mit.edu	37	5	54577281	54577281	+	Silent	SNP	G	G	C			TCGA-HT-7686-01A-11D-2253-08	TCGA-HT-7686-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22530a76-c1dd-4ff9-8503-ffcce2eeda5a	5cd72590-fbad-4fde-a315-5b5862bdddbf	g.chr5:54577281G>C	ENST00000251636.5	-	12	2176	c.2028C>G	c.(2026-2028)ctC>ctG	p.L676L	RP11-506H20.1_ENST00000506435.1_RNA	NM_019030.2	NP_061903.2	Q7Z478	DHX29_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 29	676	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|translation initiation factor activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|lung(6)|ovary(4)|prostate(1)|skin(3)|urinary_tract(2)	46		Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183)				TTGTACAATAGAGTAACCTGG	0.393													35	54					0	0	1	0	0	C	54577281	G	C	54577281	2	2	264	1	0	0	0	0	0	0	0	1	4531	929	33	4		4	DHX29	5	54577281	Silent	SNP	G	TCGA-HT-7686-01A-11D-2253-08	9314925	54577281	126337979	9	27560											
UNC5CL	222643	broad.mit.edu	37	6	40996311	40996311	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-7686-01A-11D-2253-08	TCGA-HT-7686-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22530a76-c1dd-4ff9-8503-ffcce2eeda5a	5cd72590-fbad-4fde-a315-5b5862bdddbf	g.chr6:40996311G>T	ENST00000244565.3	-	9	1446	c.1358C>A	c.(1357-1359)cCc>cAc	p.P453H	UNC5CL_ENST00000470102.1_5'UTR|UNC5CL_ENST00000373164.1_Missense_Mutation_p.P453H	NM_173561.2	NP_775832.2	Q8IV45	UN5CL_HUMAN	unc-5 homolog C (C. elegans)-like	453	Death.				signal transduction	cytoplasm|integral to membrane				endometrium(1)|kidney(3)|large_intestine(3)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	13	Ovarian(28;0.0418)|Colorectal(47;0.196)					GGCCGCTGCGGGGCTGCGCTG	0.672													27	58					3.67414e-24	4.36925e-24	1	1	0	T	40996311	G	T	40996311	3	4	264	1	0	0	0	0	1	0	0	0	17054	1232	43	5	202	5	UNC5CL	6	40996311	Missense_Mutation	SNP	G	TCGA-HT-7686-01A-11D-2253-08		40996311	130118756	10	27561											
LAMA2	3908	broad.mit.edu	37	6	129468139	129468139	+	Silent	SNP	G	G	T			TCGA-HT-7686-01A-11D-2253-08	TCGA-HT-7686-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22530a76-c1dd-4ff9-8503-ffcce2eeda5a	5cd72590-fbad-4fde-a315-5b5862bdddbf	g.chr6:129468139G>T	ENST00000421865.2	+	6	904	c.855G>T	c.(853-855)ggG>ggT	p.G285G		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	285	Laminin N-terminal.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	p.G285G(1)		NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		CAGTTGGAGGGATGTGCATCT	0.433													7	170					7.48243e-07	8.02992e-07	1	1	0	T	129468139	G	T	129468139	2	4	264	1	0	0	0	0	0	0	0	1	8645	1161	41	5		5	LAMA2	6	129468139	Silent	SNP	G	TCGA-HT-7686-01A-11D-2253-08	88471828	129468139	41646928	11	27562											
ADAM28	10863	broad.mit.edu	37	8	24201057	24201057	+	Silent	SNP	A	A	G			TCGA-HT-7686-01A-11D-2253-08	TCGA-HT-7686-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22530a76-c1dd-4ff9-8503-ffcce2eeda5a	5cd72590-fbad-4fde-a315-5b5862bdddbf	g.chr8:24201057A>G	ENST00000265769.4	+	18	2060	c.1950A>G	c.(1948-1950)ggA>ggG	p.G650G	RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000523700.1_RNA|ADAM28_ENST00000397649.3_Silent_p.G397G|RP11-624C23.1_ENST00000518988.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28	650	EGF-like.				proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		GTGAGGAAGGATGGATCCCTC	0.498													23	47					0	0	1	0	0	G	24201057	A	G	24201057	2	3	264	1	0	0	0	0	0	0	0	1	245	320	12	3		3	ADAM28	8	24201057	Silent	SNP	A	TCGA-HT-7686-01A-11D-2253-08		24201057	122162965	12	27563											
PKHD1L1	93035	broad.mit.edu	37	8	110408325	110408325	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7686-01A-11D-2253-08	TCGA-HT-7686-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22530a76-c1dd-4ff9-8503-ffcce2eeda5a	5cd72590-fbad-4fde-a315-5b5862bdddbf	g.chr8:110408325T>C	ENST00000378402.5	+	11	985	c.881T>C	c.(880-882)tTc>tCc	p.F294S		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	294	IPT/TIG 3.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			AGTGGGCGTTTCTTTGATCAG	0.403										HNSCC(38;0.096)			9	13					0	0	1	0	0	C	110408325	T	C	110408325	3	2	264	1	0	0	0	0	1	0	0	0	12020	1783	62	3	923	3	PKHD1L1	8	110408325	Missense_Mutation	SNP	T	TCGA-HT-7686-01A-11D-2253-08	86207268	110408325	35955697	13	27564											
EPPK1	83481	broad.mit.edu	37	8	144941387	144941387	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-7686-01A-11D-2253-08	TCGA-HT-7686-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22530a76-c1dd-4ff9-8503-ffcce2eeda5a	5cd72590-fbad-4fde-a315-5b5862bdddbf	g.chr8:144941387G>T	ENST00000525985.1	-	2	6106	c.6035C>A	c.(6034-6036)gCc>gAc	p.A2012D				P58107	EPIPL_HUMAN	epiplakin 1	2012						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)			ACCCCCCGTGGCCACCTGCAC	0.627													13	22					3.27435e-08	3.60179e-08	1	1	0	T	144941387	G	T	144941387	3	4	264	1	0	0	0	0	1	0	0	0	5218	1203	42	5	1231	5	EPPK1	8	144941387	Missense_Mutation	SNP	G	TCGA-HT-7686-01A-11D-2253-08	34533062	144941387	1422635	14	27565											
UBAP1	51271	broad.mit.edu	37	9	34250662	34250662	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-7686-01A-11D-2253-08	TCGA-HT-7686-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22530a76-c1dd-4ff9-8503-ffcce2eeda5a	5cd72590-fbad-4fde-a315-5b5862bdddbf	g.chr9:34250662G>T	ENST00000536252.1	+	7	1671	c.1273G>T	c.(1273-1275)Gac>Tac	p.D425Y	UBAP1_ENST00000379186.4_Missense_Mutation_p.D364Y|UBAP1_ENST00000297661.4_Missense_Mutation_p.D425Y|UBAP1_ENST00000359544.2_Missense_Mutation_p.D425Y|UBAP1_ENST00000545103.1_Missense_Mutation_p.D489Y|UBAP1_ENST00000543944.1_Missense_Mutation_p.D461Y|UBAP1_ENST00000540348.1_Missense_Mutation_p.D425Y	NM_001171203.2	NP_001164674.1	Q9NZ09	UBAP1_HUMAN	ubiquitin associated protein 1	425	UBA 1.					cytoplasm				endometrium(4)|kidney(2)|lung(6)|upper_aerodigestive_tract(1)	13			LUSC - Lung squamous cell carcinoma(29;0.00272)			TTAGATTCTCGACTATCTCTT	0.468													19	31					4.35082e-09	4.90861e-09	1	1	0	T	34250662	G	T	34250662	3	4	264	1	0	0	0	0	1	0	0	0	16897	1058	37	5	1528	5	UBAP1	9	34250662	Missense_Mutation	SNP	G	TCGA-HT-7686-01A-11D-2253-08		34250662	106962769	15	27566											
NR1H3	10062	broad.mit.edu	37	11	47281984	47281984	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7686-01A-11D-2253-08	TCGA-HT-7686-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22530a76-c1dd-4ff9-8503-ffcce2eeda5a	5cd72590-fbad-4fde-a315-5b5862bdddbf	g.chr11:47281984A>G	ENST00000467728.1	+	3	1495	c.257A>G	c.(256-258)aAg>aGg	p.K86R	NR1H3_ENST00000405576.1_Missense_Mutation_p.K41R|NR1H3_ENST00000441012.2_Missense_Mutation_p.K86R|NR1H3_ENST00000395397.3_Missense_Mutation_p.K41R|NR1H3_ENST00000405853.3_Missense_Mutation_p.K86R|NR1H3_ENST00000481889.2_Missense_Mutation_p.K41R|NR1H3_ENST00000529540.1_3'UTR|NR1H3_ENST00000407404.1_Missense_Mutation_p.K86R|NR1H3_ENST00000527949.1_5'UTR			Q13133	NR1H3_HUMAN	nuclear receptor subfamily 1, group H, member 3	86					apoptotic cell clearance|cellular response to lipopolysaccharide|cholesterol homeostasis|negative regulation of cholesterol storage|negative regulation of inflammatory response|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of lipid transport|negative regulation of macrophage activation|negative regulation of pancreatic juice secretion|negative regulation of pinocytosis|negative regulation of secretion of lysosomal enzymes|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of cholesterol homeostasis|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of receptor biosynthetic process|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of triglyceride biosynthetic process|regulation of circadian rhythm|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to progesterone stimulus|triglyceride homeostasis	nuclear chromatin|nucleoplasm	cholesterol binding|steroid hormone receptor activity|sterol response element binding|transcription coactivator activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(5)	20						AAGCGGAAAAAGGGGCCAGCC	0.567													3	49					0	0	1	0	0	G	47281984	A	G	47281984	3	3	264	1	0	0	0	0	1	0	0	0	10666	72	3	3	267	3	NR1H3	11	47281984	Missense_Mutation	SNP	A	TCGA-HT-7686-01A-11D-2253-08		47281984	87724532	16	27567											
ARHGAP32	9743	broad.mit.edu	37	11	128839036	128839036	+	Silent	SNP	G	G	A			TCGA-HT-7686-01A-11D-2253-08	TCGA-HT-7686-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22530a76-c1dd-4ff9-8503-ffcce2eeda5a	5cd72590-fbad-4fde-a315-5b5862bdddbf	g.chr11:128839036G>A	ENST00000310343.9	-	22	6029	c.6030C>T	c.(6028-6030)caC>caT	p.H2010H	ARHGAP32_ENST00000527272.1_Silent_p.H1661H|ARHGAP32_ENST00000392657.3_Silent_p.H1661H|ARHGAP32_ENST00000524655.1_3'UTR	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	2010	Interaction with FYN.				cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						GGCGCTTGCCGTGTGGTTGGT	0.567													3	70					0	0	1	0	0	A	128839036	G	A	128839036	2	1	264	1	0	0	0	0	0	0	0	1	878	1136	40	1		1	ARHGAP32	11	128839036	Silent	SNP	G	TCGA-HT-7686-01A-11D-2253-08	81557052	128839036	6167480	17	27568											
TAS2R42	353164	broad.mit.edu	37	12	11339191	11339191	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7686-01A-11D-2253-08	TCGA-HT-7686-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22530a76-c1dd-4ff9-8503-ffcce2eeda5a	5cd72590-fbad-4fde-a315-5b5862bdddbf	g.chr12:11339191A>G	ENST00000334266.1	-	1	352	c.353T>C	c.(352-354)cTt>cCt	p.L118P		NM_181429.1	NP_852094.1	Q7RTR8	T2R42_HUMAN	taste receptor, type 2, member 42	118					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			breast(1)|kidney(2)|lung(4)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(49;0.0455)			CCAGAGGAAAAGGGAGTGGGG	0.398													3	48					0	0	1	0	0	G	11339191	A	G	11339191	3	3	264	1	0	0	0	0	1	0	0	0	15637	72	3	3	595	3	TAS2R42	12	11339191	Missense_Mutation	SNP	A	TCGA-HT-7686-01A-11D-2253-08		11339191	122512704	18	27569											
AK7	122481	broad.mit.edu	37	14	96944967	96944967	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7686-01A-11D-2253-08	TCGA-HT-7686-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22530a76-c1dd-4ff9-8503-ffcce2eeda5a	5cd72590-fbad-4fde-a315-5b5862bdddbf	g.chr14:96944967T>C	ENST00000267584.4	+	15	1765	c.1721T>C	c.(1720-1722)tTt>tCt	p.F574S		NM_152327.3	NP_689540.2	Q96M32	KAD7_HUMAN	adenylate kinase 7	574					cell projection organization	cytosol	adenylate kinase activity|ATP binding|cytidylate kinase activity			breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)		TTCAACTATTTTGATGAACTT	0.478													36	48					0	0	1	0	0	C	96944967	T	C	96944967	3	2	264	1	0	0	0	0	1	0	0	0	441	1841	64	3	1779	3	AK7	14	96944967	Missense_Mutation	SNP	T	TCGA-HT-7686-01A-11D-2253-08		96944967	10404573	19	27570											
ZNF592	9640	broad.mit.edu	37	15	85327543	85327543	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7686-01A-11D-2253-08	TCGA-HT-7686-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22530a76-c1dd-4ff9-8503-ffcce2eeda5a	5cd72590-fbad-4fde-a315-5b5862bdddbf	g.chr15:85327543A>G	ENST00000299927.3	+	1	1659	c.1637A>G	c.(1636-1638)aAg>aGg	p.K546R	ZNF592_ENST00000560079.2_Missense_Mutation_p.K546R			Q92610	ZN592_HUMAN	zinc finger protein 592	546					cell death|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(143;0.0587)			CAGGTGAAAAAGGCTGCCCCA	0.572													3	68					0	0	1	0	0	G	85327543	A	G	85327543	3	3	264	1	0	0	0	0	1	0	0	0	18079	72	3	3	1639	3	ZNF592	15	85327543	Missense_Mutation	SNP	A	TCGA-HT-7686-01A-11D-2253-08		85327543	17203849	20	27571											
ANPEP	290	broad.mit.edu	37	15	90342683	90342683	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-7686-01A-11D-2253-08	TCGA-HT-7686-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22530a76-c1dd-4ff9-8503-ffcce2eeda5a	5cd72590-fbad-4fde-a315-5b5862bdddbf	g.chr15:90342683G>T	ENST00000300060.6	-	13	2240	c.1927C>A	c.(1927-1929)Cag>Aag	p.Q643K	ANPEP_ENST00000558177.1_5'UTR	NM_001150.2	NP_001141.2	P15144	AMPN_HUMAN	alanyl (membrane) aminopeptidase	643	Metalloprotease.				angiogenesis|cell differentiation|interspecies interaction between organisms	cytosol|ER-Golgi intermediate compartment|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		Ezetimibe(DB00973)	AGCTGAGTCTGAATCTTCCTC	0.592													3	59					1	1	1	1	0	T	90342683	G	T	90342683	3	4	264	1	0	0	0	0	1	0	0	0	704	1299	45	5	1012	5	ANPEP	15	90342683	Missense_Mutation	SNP	G	TCGA-HT-7686-01A-11D-2253-08	5015140	90342683	12188709	21	27572											
ZZEF1	23140	broad.mit.edu	37	17	3970464	3970464	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7686-01A-11D-2253-08	TCGA-HT-7686-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22530a76-c1dd-4ff9-8503-ffcce2eeda5a	5cd72590-fbad-4fde-a315-5b5862bdddbf	g.chr17:3970464A>G	ENST00000381638.2	-	27	4272	c.4148T>C	c.(4147-4149)aTa>aCa	p.I1383T		NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	1383							calcium ion binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						TACCATCCATATTCGAATCCC	0.393													3	42					0	0	1	0	0	G	3970464	A	G	3970464	3	3	264	1	0	0	0	0	1	0	0	0	18295	449	16	3	4853	3	ZZEF1	17	3970464	Missense_Mutation	SNP	A	TCGA-HT-7686-01A-11D-2253-08		3970464	77224746	22	27573											
TP53	7157	broad.mit.edu	37	17	7577120	7577120	+	Missense_Mutation	SNP	C	C	T	rs28934576	by1000genomes	TCGA-HT-7686-01A-11D-2253-08	TCGA-HT-7686-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22530a76-c1dd-4ff9-8503-ffcce2eeda5a	5cd72590-fbad-4fde-a315-5b5862bdddbf	g.chr17:7577120C>T	ENST00000420246.2	-	8	950	c.818G>A	c.(817-819)cGt>cAt	p.R273H	TP53_ENST00000269305.4_Missense_Mutation_p.R273H|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.R273H|TP53_ENST00000455263.2_Missense_Mutation_p.R273H|TP53_ENST00000445888.2_Missense_Mutation_p.R273H	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	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).		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.R273H(521)|p.R273L(93)|p.R273P(32)|p.0?(8)|p.?(2)|p.R273fs*32(2)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273S(1)|p.E258fs*71(1)|p.R273fs*72(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.R273fs*33(1)|p.E271_R273delEVR(1)|p.V272_K292del21(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	0.542	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)			13	4					0	0	1	0	0	T	7577120	C	T	7577120	3	4	264	1	0	0	0	0	1	0	0	0	16442	536	19	1	468	1	TP53	17	7577120	Missense_Mutation	SNP	C	TCGA-HT-7686-01A-11D-2253-08	3606656	7577120	73618090	23	27574											
MYH2	4620	broad.mit.edu	37	17	10429940	10429940	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7686-01A-11D-2253-08	TCGA-HT-7686-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22530a76-c1dd-4ff9-8503-ffcce2eeda5a	5cd72590-fbad-4fde-a315-5b5862bdddbf	g.chr17:10429940C>T	ENST00000245503.5	-	30	4547	c.4163G>A	c.(4162-4164)cGc>cAc	p.R1388H	CTC-297N7.11_ENST00000587182.2_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.R1388H|MYH2_ENST00000532183.2_Intron|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1388					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.R1388H(2)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						CTCCTCTGTGCGCTGGATGGC	0.512													52	145					0	0	1	0	0	T	10429940	C	T	10429940	3	4	264	1	0	0	0	0	1	0	0	0	10083	768	27	1	1706	1	MYH2	17	10429940	Missense_Mutation	SNP	C	TCGA-HT-7686-01A-11D-2253-08	2852820	10429940	70765270	24	27575											
TUBG1	7283	broad.mit.edu	37	17	40767042	40767042	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7686-01A-11D-2253-08	TCGA-HT-7686-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22530a76-c1dd-4ff9-8503-ffcce2eeda5a	5cd72590-fbad-4fde-a315-5b5862bdddbf	g.chr17:40767042G>A	ENST00000251413.3	+	11	1401	c.1339G>A	c.(1339-1341)Ggc>Agc	p.G447S		NM_001070.4	NP_001061.2	P23258	TBG1_HUMAN	tubulin, gamma 1	447					G2/M transition of mitotic cell cycle|meiotic spindle organization|protein polymerization	condensed nuclear chromosome|cytosol|gamma-tubulin complex|polar microtubule	GTP binding|GTPase activity|protein binding|structural constituent of cytoskeleton			endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.129)		CATCTCCTGGGGCACCCAGGA	0.582													4	36					0	0	1	0	0	A	40767042	G	A	40767042	3	1	264	1	0	0	0	0	1	0	0	0	16826	1232	43	2	1381	2	TUBG1	17	40767042	Missense_Mutation	SNP	G	TCGA-HT-7686-01A-11D-2253-08	30337102	40767042	40428168	25	27576											
CCNB3	85417	broad.mit.edu	37	X	50055581	50055581	+	Missense_Mutation	SNP	T	T	A			TCGA-HT-7686-01A-11D-2253-08	TCGA-HT-7686-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22530a76-c1dd-4ff9-8503-ffcce2eeda5a	5cd72590-fbad-4fde-a315-5b5862bdddbf	g.chrX:50055581T>A	ENST00000376042.1	+	7	3670	c.3372T>A	c.(3370-3372)agT>agA	p.S1124R	CCNB3_ENST00000348603.2_Intron|CCNB3_ENST00000276014.7_Missense_Mutation_p.S1124R|CCNB3_ENST00000376038.1_Intron			Q8WWL7	CCNB3_HUMAN	cyclin B3	1124					cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding			breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					GTGATCCAAGTTTCAACCCAA	0.383													19	117					0	0	1	0	0	A	50055581	T	A	50055581	3	1	264	1	0	0	0	0	1	0	0	0	2936	1722	60	5	3390	5	CCNB3	23	50055581	Missense_Mutation	SNP	T	TCGA-HT-7686-01A-11D-2253-08		50055581	105214979	26	27577											
ATRX	546	broad.mit.edu	37	X	76920224	76920224	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HT-7686-01A-11D-2253-08	TCGA-HT-7686-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22530a76-c1dd-4ff9-8503-ffcce2eeda5a	5cd72590-fbad-4fde-a315-5b5862bdddbf	g.chrX:76920224delA	ENST00000373344.5	-	11	4067	c.3853delT	c.(3853-3855)tccfs	p.S1286fs	ATRX_ENST00000395603.3_Frame_Shift_Del_p.S1248fs|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1286				S -> P (in Ref. 4; BAD92165).	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)	TCATCAGAGGAAAGATTGGCT	0.373			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						13	50	---	---	---	---						-	76920224	A	-	76920224	7	5	264	1	0	1	0	1	0	0	0	0	1206	246	9	0	3725	0	ATRX	23	76920224	Frame_Shift_Del	DEL	A	TCGA-HT-7686-01A-11D-2253-08	26864643	76920224	78350336	27	27578											
ATP2B3	492	broad.mit.edu	37	X	152826160	152826160	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7686-01A-11D-2253-08	TCGA-HT-7686-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22530a76-c1dd-4ff9-8503-ffcce2eeda5a	5cd72590-fbad-4fde-a315-5b5862bdddbf	g.chrX:152826160G>A	ENST00000370186.1	+	17	3150	c.2824G>A	c.(2824-2826)Ggg>Agg	p.G942R	ATP2B3_ENST00000393842.1_Missense_Mutation_p.G942R|ATP2B3_ENST00000349466.2_Missense_Mutation_p.G956R|ATP2B3_ENST00000359149.3_Missense_Mutation_p.G956R|ATP2B3_ENST00000263519.4_Missense_Mutation_p.G956R|ATP2B3_ENST00000460549.1_3'UTR|ATP2B3_ENST00000370181.2_Missense_Mutation_p.G942R			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	956					ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CATCGACAGCGGGAGGAATGC	0.552													3	73					0	0	1	0	0	A	152826160	G	A	152826160	3	1	264	1	0	0	0	0	1	0	0	0	1140	1116	39	1	2932	1	ATP2B3	23	152826160	Missense_Mutation	SNP	G	TCGA-HT-7686-01A-11D-2253-08	75905936	152826160	2444400	28	27579											
HIVEP3	59269	broad.mit.edu	37	1	42050151	42050151	+	Silent	SNP	C	C	T			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr1:42050151C>T	ENST00000372584.1	-	3	1332	c.318G>A	c.(316-318)tcG>tcA	p.S106S	HIVEP3_ENST00000429157.2_Silent_p.S106S|HIVEP3_ENST00000247584.5_Silent_p.S106S|HIVEP3_ENST00000372583.1_Silent_p.S106S	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	106					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)				GTTTGCCAGGCGACATGAATG	0.617													98	42					0	0	1	0	0	T	42050151	C	T	42050151	2	4	265	1	0	0	0	0	0	0	0	1	7229	755	27	1		1	HIVEP3	1	42050151	Silent	SNP	C	TCGA-HT-7687-01A-11D-2253-08		42050151	207200470	1	27580											
TNN	63923	broad.mit.edu	37	1	175116175	175116175	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr1:175116175C>T	ENST00000239462.4	+	19	3981	c.3868C>T	c.(3868-3870)Cgg>Tgg	p.R1290W		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	1290					cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		CAGAAAGAAGCGGACGCTGAG	0.592											OREG0013992	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	15	24					0	0	1	0	0	T	175116175	C	T	175116175	3	4	265	1	0	0	0	0	1	0	0	0	16383	759	27	1	3938	1	TNN	1	175116175	Missense_Mutation	SNP	C	TCGA-HT-7687-01A-11D-2253-08	133066024	175116175	74134446	2	27581											
CACNA1S	779	broad.mit.edu	37	1	201042735	201042735	+	Missense_Mutation	SNP	G	G	A	rs147112322		TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr1:201042735G>A	ENST00000362061.3	-	15	2325	c.2099C>T	c.(2098-2100)aCg>aTg	p.T700M	CACNA1S_ENST00000367338.3_Missense_Mutation_p.T700M	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	700					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	CTTGGCCATCGTTGACTTCTC	0.542													52	515					0	0	1	0	0	A	201042735	G	A	201042735	3	1	265	1	0	0	0	0	1	0	0	0	2565	1145	40	1	3642	1	CACNA1S	1	201042735	Missense_Mutation	SNP	G	TCGA-HT-7687-01A-11D-2253-08	25926560	201042735	48207886	3	27582											
LEFTY2	7044	broad.mit.edu	37	1	226125277	226125277	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr1:226125277G>T	ENST00000366820.5	-	4	1313	c.965C>A	c.(964-966)gCc>gAc	p.A322D	LEFTY2_ENST00000420304.2_Missense_Mutation_p.A288D	NM_003240.3	NP_003231.2	O00292	LFTY2_HUMAN	left-right determination factor 2	322					cell growth|multicellular organismal development|platelet activation|platelet degranulation|transforming growth factor beta receptor signaling pathway	extracellular space|platelet alpha granule lumen	cytokine activity|growth factor activity|transforming growth factor beta receptor binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	16	Breast(184;0.197)					GGGCAGCGAGGCAGTCTCCGA	0.647													3	48					1	1	1	1	0	T	226125277	G	T	226125277	3	4	265	1	0	0	0	0	1	0	0	0	8755	1203	42	5	139	5	LEFTY2	1	226125277	Missense_Mutation	SNP	G	TCGA-HT-7687-01A-11D-2253-08	25082542	226125277	23125344	4	27583											
OBSCN	84033	broad.mit.edu	37	1	228432192	228432192	+	Missense_Mutation	SNP	C	C	A			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr1:228432192C>A	ENST00000570156.2	+	12	3751	c.3677C>A	c.(3676-3678)cCa>cAa	p.P1226Q	OBSCN_ENST00000422127.1_Missense_Mutation_p.P1134Q|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000284548.11_Missense_Mutation_p.P1134Q|OBSCN_ENST00000366707.4_5'UTR	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	172	Ig-like 12.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CTGGTGCTGCCACAGGCGGGC	0.587													8	80					1.08611e-07	1.14514e-07	1	1	0	A	228432192	C	A	228432192	3	1	265	1	0	0	0	0	1	0	0	0	10860	594	21	5	3439	5	OBSCN	1	228432192	Missense_Mutation	SNP	C	TCGA-HT-7687-01A-11D-2253-08	2306915	228432192	20818429	5	27584											
MYT1L	23040	broad.mit.edu	37	2	1926215	1926215	+	Silent	SNP	C	C	T			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr2:1926215C>T	ENST00000399161.2	-	10	2073	c.1326G>A	c.(1324-1326)acG>acA	p.T442T	MYT1L_ENST00000428368.2_Silent_p.T442T	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	442					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		TTGCTCTTTCCGTTTCCAAAG	0.547													66	98					0	0	1	0	0	T	1926215	C	T	1926215	2	4	265	1	0	0	0	0	0	0	0	1	10155	639	23	1		1	MYT1L	2	1926215	Silent	SNP	C	TCGA-HT-7687-01A-11D-2253-08		1926215	241273158	6	27585											
C2orf43	60526	broad.mit.edu	37	2	21001131	21001131	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr2:21001131C>G	ENST00000237822.3	-	2	172	c.93G>C	c.(91-93)tgG>tgC	p.W31C	C2orf43_ENST00000419825.2_Missense_Mutation_p.W31C|C2orf43_ENST00000435420.2_Missense_Mutation_p.W31C|C2orf43_ENST00000541941.1_Intron|C2orf43_ENST00000440866.2_Missense_Mutation_p.W31C|C2orf43_ENST00000403006.2_Intron|C2orf43_ENST00000381090.3_Missense_Mutation_p.W31C	NM_001282721.1|NM_021925.2	NP_001269650.1|NP_068744.1	Q9H6V9	CB043_HUMAN	chromosome 2 open reading frame 43	31										endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|stomach(1)	6	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGAGGTCTGTCCAGGGCCCAC	0.423													45	81					0	0	1	0	0	G	21001131	C	G	21001131	3	3	265	1	0	0	0	0	1	0	0	0	2181	856	30	5	908	5	C2orf43	2	21001131	Missense_Mutation	SNP	C	TCGA-HT-7687-01A-11D-2253-08	19074916	21001131	222198242	7	27586											
RANBP2	5903	broad.mit.edu	37	2	109382889	109382889	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr2:109382889A>G	ENST00000283195.6	+	20	6020	c.5894A>G	c.(5893-5895)gAc>gGc	p.D1965G		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	1965					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						GGCAAAAAAGACCCCAATTTC	0.388													13	295					0	0	1	0	0	G	109382889	A	G	109382889	3	3	265	1	0	0	0	0	1	0	0	0	13080	275	10	3	5972	3	RANBP2	2	109382889	Missense_Mutation	SNP	A	TCGA-HT-7687-01A-11D-2253-08	88381758	109382889	133816484	8	27587											
BUB1	699	broad.mit.edu	37	2	111398886	111398886	+	Silent	SNP	G	G	A			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr2:111398886G>A	ENST00000535254.1	-	21	2788	c.2721C>T	c.(2719-2721)aaC>aaT	p.N907N	BUB1_ENST00000409311.1_Intron|BUB1_ENST00000302759.6_Silent_p.N927N	NM_001278616.1	NP_001265545.1	O43683	BUB1_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase	927	Protein kinase.				apoptosis|cell division|chromosome segregation|interspecies interaction between organisms|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|regulation of sister chromatid cohesion	condensed chromosome kinetochore|cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			breast(3)|endometrium(8)|kidney(4)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|stomach(1)	45		Ovarian(717;0.0822)		BRCA - Breast invasive adenocarcinoma(221;0.0556)		ACACTTGCCCGTTTCCAAGTA	0.383													4	109					0	0	1	0	0	A	111398886	G	A	111398886	2	1	265	1	0	0	0	0	0	0	0	1	1573	1136	40	1		1	BUB1	2	111398886	Silent	SNP	G	TCGA-HT-7687-01A-11D-2253-08	2015997	111398886	131800487	9	27588											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								48	70					0	0	1	0	0	T	209113112	C	T	209113112	3	4	265	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HT-7687-01A-11D-2253-08	97714226	209113112	34086261	10	27589											
CNTN3	5067	broad.mit.edu	37	3	74383984	74383984	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr3:74383984G>T	ENST00000263665.6	-	12	1597	c.1570C>A	c.(1570-1572)Caa>Aaa	p.Q524K		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	524	Ig-like C2-type 6.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		GGGTCATGTTGTACCTGGCAG	0.418													37	61					1.15183e-24	1.24142e-24	1	1	0	T	74383984	G	T	74383984	3	4	265	1	0	0	0	0	1	0	0	0	3665	1386	48	5	1560	5	CNTN3	3	74383984	Missense_Mutation	SNP	G	TCGA-HT-7687-01A-11D-2253-08		74383984	123638446	11	27590											
OR5K3	403277	broad.mit.edu	37	3	98109669	98109669	+	Missense_Mutation	SNP	C	C	T	rs150899692		TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr3:98109669C>T	ENST00000383695.1	+	1	160	c.160C>T	c.(160-162)Cgt>Tgt	p.R54C	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005516.1	NP_001005516.1	A6NET4	OR5K3_HUMAN	olfactory receptor, family 5, subfamily K, member 3	54					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|prostate(1)|skin(1)|urinary_tract(1)	27						TATAGAGCAACGTCTTCACAC	0.413													95	178					0	0	1	0	0	T	98109669	C	T	98109669	3	4	265	1	0	0	0	0	1	0	0	0	11215	536	19	1	162	1	OR5K3	3	98109669	Missense_Mutation	SNP	C	TCGA-HT-7687-01A-11D-2253-08	23725685	98109669	99912761	12	27591											
DPPA2	151871	broad.mit.edu	37	3	109028103	109028103	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr3:109028103G>A	ENST00000478945.1	-	4	502	c.256C>T	c.(256-258)Ccg>Tcg	p.P86S		NM_138815.3	NP_620170.3	Q7Z7J5	DPPA2_HUMAN	developmental pluripotency associated 2	86						nucleus	nucleic acid binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						AAAATGGTCGGCAAGGGAAGG	0.443													4	181					0	0	1	0	0	A	109028103	G	A	109028103	3	1	265	1	0	0	0	0	1	0	0	0	4760	1203	42	2	660	2	DPPA2	3	109028103	Missense_Mutation	SNP	G	TCGA-HT-7687-01A-11D-2253-08	10918434	109028103	88994327	13	27592											
PHC3	80012	broad.mit.edu	37	3	169835095	169835095	+	Silent	SNP	A	A	G			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr3:169835095A>G	ENST00000495893.2	-	10	2143	c.2112T>C	c.(2110-2112)ccT>ccC	p.P704P	PHC3_ENST00000467570.1_Silent_p.P651P|PHC3_ENST00000494943.1_Silent_p.P692P	NM_024947.3	NP_079223.3	Q8NDX5	PHC3_HUMAN	polyhomeotic homolog 3 (Drosophila)						multicellular organismal development	PcG protein complex	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|upper_aerodigestive_tract(2)	26	all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)			TAGCCTGTGGAGGTTTGTTCT	0.433													6	65					0	0	1	0	0	G	169835095	A	G	169835095	2	3	265	1	0	0	0	0	0	0	0	1	11866	291	11	3		3	PHC3	3	169835095	Silent	SNP	A	TCGA-HT-7687-01A-11D-2253-08	60806992	169835095	28187335	14	27593											
OPA1	4976	broad.mit.edu	37	3	193360822	193360822	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr3:193360822G>A	ENST00000361510.2	+	13	1523	c.1289G>A	c.(1288-1290)tGt>tAt	p.C430Y	OPA1_ENST00000361828.2_Missense_Mutation_p.C393Y|OPA1_ENST00000392438.3_Missense_Mutation_p.C375Y|OPA1_ENST00000361715.2_Missense_Mutation_p.C394Y|OPA1_ENST00000361150.2_Missense_Mutation_p.C376Y|OPA1_ENST00000361908.3_Missense_Mutation_p.C412Y	NM_130837.2	NP_570850.2	O60313	OPA1_HUMAN	optic atrophy 1 (autosomal dominant)	375			Missing (in OPA1).|N -> D (in OPA1).		apoptosis|axon transport of mitochondrion|inner mitochondrial membrane organization|mitochondrial fission|mitochondrial fusion|positive regulation of anti-apoptosis|response to stimulus|visual perception	dendrite|integral to membrane|mitochondrial crista|mitochondrial intermembrane space|mitochondrial outer membrane	GTP binding|GTPase activity|magnesium ion binding|protein binding			breast(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(4)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(2)	31	all_cancers(143;9.56e-09)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000162)		AAAGAAGGCTGTACCGTTAGC	0.323													3	44					0	0	1	0	0	A	193360822	G	A	193360822	3	1	265	1	0	0	0	0	1	0	0	0	10919	1377	48	2	1339	2	OPA1	3	193360822	Missense_Mutation	SNP	G	TCGA-HT-7687-01A-11D-2253-08	23525727	193360822	4661608	15	27594											
LMLN	89782	broad.mit.edu	37	3	197707307	197707307	+	Silent	SNP	C	C	T			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr3:197707307C>T	ENST00000330198.4	+	6	682	c.660C>T	c.(658-660)acC>acT	p.T220T	LMLN_ENST00000482695.1_Silent_p.T168T|LMLN_ENST00000332636.5_Silent_p.T168T|LMLN_ENST00000420910.2_Silent_p.T220T	NM_033029.3	NP_149018.2	Q96KR4	LMLN_HUMAN	leishmanolysin-like (metallopeptidase M8 family)	220					cell adhesion|cell division|mitosis|proteolysis	cytoplasm|membrane	metalloendopeptidase activity|zinc ion binding	p.T220T(1)		endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)	Lung NSC(153;0.132)	Epithelial(36;9.84e-24)|all cancers(36;3.18e-22)|OV - Ovarian serous cystadenocarcinoma(49;5.35e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.111)		CTCTGGCCACCGAGAGATGCA	0.502													5	203					0	0	1	0	0	T	197707307	C	T	197707307	2	4	265	1	0	0	0	0	0	0	0	1	8888	639	23	1		1	LMLN	3	197707307	Silent	SNP	C	TCGA-HT-7687-01A-11D-2253-08	4346485	197707307	315123	16	27595											
HTT	3064	broad.mit.edu	37	4	3225848	3225848	+	Silent	SNP	G	G	A			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr4:3225848G>A	ENST00000355072.5	+	56	7900	c.7755G>A	c.(7753-7755)ccG>ccA	p.P2585P		NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin	2585					establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		CTCTGTCTCCGGCTACTACAG	0.512													12	266					0	0	1	0	0	A	3225848	G	A	3225848	2	1	265	1	0	0	0	0	0	0	0	1	7501	1103	39	1		1	HTT	4	3225848	Silent	SNP	G	TCGA-HT-7687-01A-11D-2253-08		3225848	187928428	17	27596											
ANKRD17	26057	broad.mit.edu	37	4	73942823	73942823	+	Splice_Site	SNP	T	T	C			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr4:73942823T>C	ENST00000358602.4	-	33	7704		c.e33-2		ANKRD17_ENST00000330838.6_Splice_Site|ANKRD17_ENST00000509867.2_Splice_Site	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17						interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			AGGCATACCCTTAAAAAAGGA	0.388													5	29					0	0	1	0	0	C	73942823	T	C	73942823	5	2	265	1	0	0	0	0	0	0	1	0	642	1623	56	3	233	3	ANKRD17	4	73942823	Splice_Site	SNP	T	TCGA-HT-7687-01A-11D-2253-08	70716975	73942823	117211453	18	27597											
TRIO	7204	broad.mit.edu	37	5	14498282	14498282	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr5:14498282G>A	ENST00000344204.4	+	52	8156	c.8132G>A	c.(8131-8133)cGc>cAc	p.R2711H	TRIO_ENST00000537187.1_Missense_Mutation_p.R2535H|TRIO_ENST00000344135.5_Missense_Mutation_p.R210H	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	2711	Ig-like C2-type.				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					GTCTGTGGCCGCCCCAAAGCC	0.542													3	74					0	0	1	0	0	A	14498282	G	A	14498282	3	1	265	1	0	0	0	0	1	0	0	0	16613	1087	38	1	8338	1	TRIO	5	14498282	Missense_Mutation	SNP	G	TCGA-HT-7687-01A-11D-2253-08		14498282	166416978	19	27598											
FCHSD1	89848	broad.mit.edu	37	5	141023973	141023973	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr5:141023973C>T	ENST00000435817.2	-	17	1725	c.1675G>A	c.(1675-1677)Gga>Aga	p.G559R	FCHSD1_ENST00000523856.1_5'UTR|FCHSD1_ENST00000522783.1_Missense_Mutation_p.G485R|FCHSD1_ENST00000522126.1_3'UTR	NM_033449.2	NP_258260.1	Q86WN1	FCSD1_HUMAN	FCH and double SH3 domains 1	559	SH3 2.								FCHSD1/BRAF(2)	central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCACTCTGTCCGGTGTAGCTG	0.622													20	23					0	0	1	0	0	T	141023973	C	T	141023973	3	4	265	1	0	0	0	0	1	0	0	0	5822	661	23	1	413	1	FCHSD1	5	141023973	Missense_Mutation	SNP	C	TCGA-HT-7687-01A-11D-2253-08	126525691	141023973	39891287	20	27599											
SLC36A3	285641	broad.mit.edu	37	5	150663635	150663635	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr5:150663635G>A	ENST00000335230.3	-	8	1355	c.944C>T	c.(943-945)gCc>gTc	p.A315V	SLC36A3_ENST00000377713.3_Missense_Mutation_p.A356V	NM_181774.3	NP_861439.3	Q495N2	S36A3_HUMAN	solute carrier family 36, member 3	315						integral to membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	21		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGTGATGCTGGCCTGGGTGTC	0.498													5	160					0	0	1	0	0	A	150663635	G	A	150663635	3	1	265	1	0	0	0	0	1	0	0	0	14650	1203	42	2	480	2	SLC36A3	5	150663635	Missense_Mutation	SNP	G	TCGA-HT-7687-01A-11D-2253-08	9639662	150663635	30251625	21	27600											
RREB1	6239	broad.mit.edu	37	6	7211105	7211105	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr6:7211105G>A	ENST00000379938.2	+	7	1031	c.494G>A	c.(493-495)cGt>cAt	p.R165H	RREB1_ENST00000334984.6_Missense_Mutation_p.R165H|RREB1_ENST00000349384.6_Missense_Mutation_p.R165H|RREB1_ENST00000379933.3_Missense_Mutation_p.R165H	NM_001003699.3|NM_001003700.1	NP_001003699.1|NP_001003700.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	165					multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				CCTCTGAAACGTAGGCGATTG	0.502													5	190					0	0	1	0	0	A	7211105	G	A	7211105	3	1	265	1	0	0	0	0	1	0	0	0	13731	1145	40	1	508	1	RREB1	6	7211105	Missense_Mutation	SNP	G	TCGA-HT-7687-01A-11D-2253-08		7211105	163903962	22	27601											
HLA-DOA	3111	broad.mit.edu	37	6	32975227	32975227	+	Silent	SNP	C	C	T			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr6:32975227C>T	ENST00000229829.5	-	3	549	c.474G>A	c.(472-474)gtG>gtA	p.V158V	HLA-DOA_ENST00000450833.2_Silent_p.V128V|HLA-DOA_ENST00000495532.1_5'UTR	NM_002119.3	NP_002110.1	P06340	DOA_HUMAN	major histocompatibility complex, class II, DO alpha	158	Alpha-2.|Ig-like C1-type.				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endosome membrane|integral to membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity			NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1)	9						TGGTCTGGGCCACTCCCTCAG	0.577													91	186					0	0	1	0	0	T	32975227	C	T	32975227	2	4	265	1	0	0	0	0	0	0	0	1	7241	581	21	2		2	HLA-DOA	6	32975227	Silent	SNP	C	TCGA-HT-7687-01A-11D-2253-08	25764122	32975227	138139840	23	27602											
OPN5	221391	broad.mit.edu	37	6	47775993	47775993	+	Missense_Mutation	SNP	T	T	A			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr6:47775993T>A	ENST00000489301.2	+	5	945	c.860T>A	c.(859-861)cTc>cAc	p.L287H	OPN5_ENST00000393699.2_Missense_Mutation_p.L287H|OPN5_ENST00000244799.4_3'UTR|OPN5_ENST00000371211.2_Missense_Mutation_p.L287H			Q6U736	OPN5_HUMAN	opsin 5	287					phototransduction|protein-chromophore linkage|visual perception	integral to membrane	G-protein coupled receptor activity|photoreceptor activity			endometrium(1)|large_intestine(3)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	29						CCCATACAGCTCTCTGTGGTG	0.463													63	112					0	0	1	0	0	A	47775993	T	A	47775993	3	1	265	1	0	0	0	0	1	0	0	0	10931	1551	54	5	878	5	OPN5	6	47775993	Missense_Mutation	SNP	T	TCGA-HT-7687-01A-11D-2253-08	14800766	47775993	123339074	24	27603											
ZNF292	23036	broad.mit.edu	37	6	87968456	87968457	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr6:87968456_87968457delAG	ENST00000369577.3	+	8	5152_5153	c.5109_5110delAG	c.(5107-5112)aaagagfs	p.E1704fs	ZNF292_ENST00000339907.4_Frame_Shift_Del_p.E1699fs	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	1704					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		CTGATGTAAAAGAGAATTTCAA	0.327													12	31	---	---	---	---						-	87968457	AG	-	87968456	7	5	265	1	0	1	0	1	0	0	0	0	17883	69	3	0	5139	0	ZNF292	6	87968456	Frame_Shift_Del	DEL	AG	TCGA-HT-7687-01A-11D-2253-08	40192463	87968456	83146611	25	27604											
C6orf58	352999	broad.mit.edu	37	6	127911321	127911321	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr6:127911321delC	ENST00000329722.7	+	5	776	c.764delC	c.(763-765)accfs	p.T255fs		NM_001010905.1	NP_001010905.1	Q6P5S2	CF058_HUMAN	chromosome 6 open reading frame 58	255						extracellular region				kidney(3)|large_intestine(3)|liver(1)|lung(7)|pancreas(1)	15				GBM - Glioblastoma multiforme(226;0.0405)|all cancers(137;0.156)		TTTCCTACAACCTTGATTAGA	0.388													7	190	---	---	---	---						-	127911321	C	-	127911321	7	5	265	1	0	1	0	1	0	0	0	0	2382	507	18	0	782	0	C6orf58	6	127911321	Frame_Shift_Del	DEL	C	TCGA-HT-7687-01A-11D-2253-08	39942865	127911321	43203746	26	27605											
AHI1	54806	broad.mit.edu	37	6	135787392	135787392	+	Silent	SNP	G	G	A			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr6:135787392G>A	ENST00000367800.4	-	5	525	c.309C>T	c.(307-309)aaC>aaT	p.N103N	AHI1_ENST00000457866.2_Silent_p.N103N|AHI1_ENST00000327035.6_Silent_p.N103N	NM_001134830.1	NP_001128302.1	Q8N157	AHI1_HUMAN	Abelson helper integration site 1	103						adherens junction|cilium|microtubule basal body				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)	37	Breast(56;0.239)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)		CTAACTGTGTGTTCCTCAATT	0.393													85	95					0	0	1	0	0	A	135787392	G	A	135787392	2	1	265	1	0	0	0	0	0	0	0	1	410	1368	48	2		2	AHI1	6	135787392	Silent	SNP	G	TCGA-HT-7687-01A-11D-2253-08	7876071	135787392	35327675	27	27606											
PKD1L1	168507	broad.mit.edu	37	7	47933628	47933628	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr7:47933628C>G	ENST00000289672.2	-	15	2350	c.2300G>C	c.(2299-2301)aGc>aCc	p.S767T		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	767	REJ.				cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						ACAGTAGTTGCTGTACACCAC	0.572													33	68					0	0	1	0	0	G	47933628	C	G	47933628	3	3	265	1	0	0	0	0	1	0	0	0	12012	797	28	4	6421	4	PKD1L1	7	47933628	Missense_Mutation	SNP	C	TCGA-HT-7687-01A-11D-2253-08		47933628	111205035	28	27607											
ABCA13	154664	broad.mit.edu	37	7	48411941	48411941	+	Silent	SNP	A	A	T			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr7:48411941A>T	ENST00000435803.1	+	33	11004	c.10980A>T	c.(10978-10980)tcA>tcT	p.S3660S		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	3660					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TTGGGATGTCAGTCGTCATGC	0.458													6	266					0	0	1	0	0	T	48411941	A	T	48411941	2	4	265	1	0	0	0	0	0	0	0	1	31	175	7	5		5	ABCA13	7	48411941	Silent	SNP	A	TCGA-HT-7687-01A-11D-2253-08	478313	48411941	110726722	29	27608											
WBSCR22	114049	broad.mit.edu	37	7	73098232	73098232	+	Splice_Site	SNP	G	G	A			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr7:73098232G>A	ENST00000423166.2	+	2	202		c.e2+1		WBSCR22_ENST00000423497.1_Intron|WBSCR22_ENST00000265758.2_Intron|WBSCR22_ENST00000464615.1_Intron			O43709	WBS22_HUMAN	Williams Beuren syndrome chromosome region 22							nucleus	methyltransferase activity			autonomic_ganglia(1)|large_intestine(2)|lung(9)|prostate(1)	13		Lung NSC(55;0.0908)|all_lung(88;0.198)				GAATTTGGGGGTGCGGGAAGG	0.612													5	27					0	0	1	0	0	A	73098232	G	A	73098232	5	1	265	1	0	0	0	0	0	0	1	0	17325	1276	44	2		2	WBSCR22	7	73098232	Splice_Site	SNP	G	TCGA-HT-7687-01A-11D-2253-08	24686291	73098232	86040431	30	27609											
GTF2IRD2	84163	broad.mit.edu	37	7	74212378	74212378	+	Silent	SNP	T	T	C			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr7:74212378T>C	ENST00000405086.2	-	16	1662	c.1473A>G	c.(1471-1473)aaA>aaG	p.K491K	GTF2IRD2_ENST00000451013.2_Silent_p.K38K	NM_173537.2	NP_775808	Q86UP8	GTD2A_HUMAN	GTF2I repeat domain containing 2	491					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(2)|skin(1)	11						tcctgagcccttttttcagct	0.468													3	106					0	0	1	0	0	C	74212378	T	C	74212378	2	2	265	1	0	0	0	0	0	0	0	1	6910	1606	56	3		3	GTF2IRD2	7	74212378	Silent	SNP	T	TCGA-HT-7687-01A-11D-2253-08	1114146	74212378	84926285	31	27610											
CROT	54677	broad.mit.edu	37	7	86990776	86990776	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr7:86990776C>T	ENST00000331536.3	+	5	496	c.311C>T	c.(310-312)gCg>gTg	p.A104V	CROT_ENST00000442291.1_Missense_Mutation_p.A104V|CROT_ENST00000419147.2_Missense_Mutation_p.A132V	NM_021151.3	NP_066974.2	Q9UKG9	OCTC_HUMAN	carnitine O-octanoyltransferase	104					fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|transport	peroxisomal matrix	carnitine O-octanoyltransferase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				L-Carnitine(DB00583)	GTCAACTTTGCGGGTCCTGCA	0.423													4	145					0	0	1	0	0	T	86990776	C	T	86990776	3	4	265	1	0	0	0	0	1	0	0	0	3917	768	27	1	409	1	CROT	7	86990776	Missense_Mutation	SNP	C	TCGA-HT-7687-01A-11D-2253-08	12778398	86990776	72147887	32	27611											
MUC17	140453	broad.mit.edu	37	7	100679973	100679973	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr7:100679973C>T	ENST00000306151.4	+	3	5340	c.5276C>T	c.(5275-5277)aCg>aTg	p.T1759M		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1759	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GTCAGCACCACGCCGGTACTC	0.502													223	351					0	0	1	0	0	T	100679973	C	T	100679973	3	4	265	1	0	0	0	0	1	0	0	0	10022	536	19	1	5286	1	MUC17	7	100679973	Missense_Mutation	SNP	C	TCGA-HT-7687-01A-11D-2253-08	13689197	100679973	58458690	33	27612											
NUP205	23165	broad.mit.edu	37	7	135298930	135298930	+	Silent	SNP	C	C	T			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr7:135298930C>T	ENST00000285968.6	+	23	3245	c.3219C>T	c.(3217-3219)tgC>tgT	p.C1073C		NM_015135.2	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	1073					carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						TATGTGCATGCTCTGATACAT	0.358													4	87					0	0	1	0	0	T	135298930	C	T	135298930	2	4	265	1	0	0	0	0	0	0	0	1	10807	805	28	2		2	NUP205	7	135298930	Silent	SNP	C	TCGA-HT-7687-01A-11D-2253-08	34618957	135298930	23839733	34	27613											
OR2A14	135941	broad.mit.edu	37	7	143826799	143826799	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr7:143826799delC	ENST00000408899.2	+	1	649	c.594delC	c.(592-594)atcfs	p.I198fs		NM_001001659.1	NP_001001659.1	Q96R47	O2A14_HUMAN	olfactory receptor, family 2, subfamily A, member 14	198					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(4)|lung(17)|skin(1)	22	Melanoma(164;0.0783)					AGGTGGTCATCTTTGCAGCCT	0.577													184	245	---	---	---	---						-	143826799	C	-	143826799	7	5	265	1	0	1	0	1	0	0	0	0	11024	903	32	0	596	0	OR2A14	7	143826799	Frame_Shift_Del	DEL	C	TCGA-HT-7687-01A-11D-2253-08	8527869	143826799	15311864	35	27614											
SSPO	23145	broad.mit.edu	37	7	149493511	149493511	+	RNA	SNP	G	G	A			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr7:149493511G>A	ENST00000378016.2	+	0	6587							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			ACTTTCGGCCGCATGGTGCAG	0.607													4	174					0	0	1	0	0	A	149493511	G	A	149493511	1	1	265	0	1	0	0	0	0	0	0	0	15245	1087	38	1		1	SSPO	7	149493511	RNA	SNP	G	TCGA-HT-7687-01A-11D-2253-08	5666712	149493511	9645152	36	27615											
TSTA3	7264	broad.mit.edu	37	8	144696860	144696860	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr8:144696860T>C	ENST00000425753.2	-	5	501	c.398A>G	c.(397-399)aAt>aGt	p.N133S	TSTA3_ENST00000529064.1_Missense_Mutation_p.N133S	NM_003313.3	NP_003304.1	Q13630	FCL_HUMAN	tissue specific transplantation antigen P35B	133					'de novo' GDP-L-fucose biosynthetic process|leukocyte cell-cell adhesion		coenzyme binding|electron carrier activity|GDP-4-dehydro-D-rhamnose reductase activity|GDP-L-fucose synthase activity|isomerase activity			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(1)	9	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.17e-38)|Epithelial(56;7.17e-37)|all cancers(56;2.46e-32)|Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)		NADH(DB00157)	GGGAGGCCCATTGTGGATCTG	0.662													3	128					0	0	1	0	0	C	144696860	T	C	144696860	3	2	265	1	0	0	0	0	1	0	0	0	16735	1493	52	3	595	3	TSTA3	8	144696860	Missense_Mutation	SNP	T	TCGA-HT-7687-01A-11D-2253-08		144696860	1667162	37	27616											
SH3GL2	6456	broad.mit.edu	37	9	17795580	17795580	+	Missense_Mutation	SNP	G	G	A	rs139383722		TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr9:17795580G>A	ENST00000380607.4	+	9	1018	c.898G>A	c.(898-900)Gac>Aac	p.D300N	SH3GL2_ENST00000537391.1_Missense_Mutation_p.D253N	NM_003026.2	NP_003017.1	Q99962	SH3G2_HUMAN	SH3-domain GRB2-like 2	300	SH3.				axon guidance|central nervous system development|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport	cytosol|Golgi membrane|plasma membrane	identical protein binding|lipid binding	p.D300N(1)		NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(50;2.71e-10)|Lung(42;0.203)		AGCTCTGTACGACTTTGAACC	0.463													25	36					0	0	1	0	0	A	17795580	G	A	17795580	3	1	265	1	0	0	0	0	1	0	0	0	14306	1058	37	1	932	1	SH3GL2	9	17795580	Missense_Mutation	SNP	G	TCGA-HT-7687-01A-11D-2253-08		17795580	123417851	38	27617											
ROR2	4920	broad.mit.edu	37	9	94499693	94499693	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr9:94499693T>C	ENST00000375708.3	-	5	800	c.602A>G	c.(601-603)gAg>gGg	p.E201G	ROR2_ENST00000375715.1_Missense_Mutation_p.E61G|ROR2_ENST00000550066.1_5'UTR	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	201	FZ.				negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						GTTTTCAATCTCCCCCTGCAT	0.537													3	146					0	0	1	0	0	C	94499693	T	C	94499693	3	2	265	1	0	0	0	0	1	0	0	0	13579	1551	54	3	2249	3	ROR2	9	94499693	Missense_Mutation	SNP	T	TCGA-HT-7687-01A-11D-2253-08	76704113	94499693	46713738	39	27618											
ECM2	1842	broad.mit.edu	37	9	95277148	95277148	+	Missense_Mutation	SNP	C	C	A			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr9:95277148C>A	ENST00000344604.5	-	4	968	c.819G>T	c.(817-819)gaG>gaT	p.E273D	ECM2_ENST00000444490.2_Missense_Mutation_p.E251D|CENPP_ENST00000375587.3_Intron	NM_001197295.1|NM_001393.3	NP_001184224.1|NP_001384.1	O94769	ECM2_HUMAN	extracellular matrix protein 2, female organ and adipocyte specific	273	Poly-Glu.				cell-matrix adhesion		integrin binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						cctcctcatcctcctcctcct	0.607													4	118					0.00024832	0.000259	1	1	0	A	95277148	C	A	95277148	3	1	265	1	0	0	0	0	1	0	0	0	4924	680	24	4	1308	4	ECM2	9	95277148	Missense_Mutation	SNP	C	TCGA-HT-7687-01A-11D-2253-08	777455	95277148	45936283	40	27619											
PAPPA	5069	broad.mit.edu	37	9	118949845	118949845	+	Silent	SNP	C	C	T	rs115729347	byFrequency	TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr9:118949845C>T	ENST00000328252.3	+	2	1197	c.828C>T	c.(826-828)ggC>ggT	p.G276G		NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	276	Metalloprotease.				cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						AAACCCATGGCGCCCACACTG	0.572													4	144					0	0	1	0	0	T	118949845	C	T	118949845	2	4	265	1	0	0	0	0	0	0	0	1	11479	755	27	1		1	PAPPA	9	118949845	Silent	SNP	C	TCGA-HT-7687-01A-11D-2253-08	23672697	118949845	22263586	41	27620											
RALGDS	5900	broad.mit.edu	37	9	135979652	135979652	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr9:135979652T>C	ENST00000393160.3	-	10	1857	c.1504A>G	c.(1504-1506)Acg>Gcg	p.T502A	RALGDS_ENST00000469972.1_5'UTR|RALGDS_ENST00000393157.3_Missense_Mutation_p.T556A|RALGDS_ENST00000542690.1_Missense_Mutation_p.T628A|RALGDS_ENST00000372050.3_Missense_Mutation_p.T557A|RALGDS_ENST00000372062.3_Missense_Mutation_p.T528A|RALGDS_ENST00000372047.3_Missense_Mutation_p.T545A	NM_001042368.1	NP_001035827.1	Q12967	GNDS_HUMAN	ral guanine nucleotide dissociation stimulator	557	Ras-GEF.				nerve growth factor receptor signaling pathway|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol	Ral guanyl-nucleotide exchange factor activity			endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10				OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05)		ACTCTCACCGTCTCCTTCGGC	0.657			T	CIITA	"PMBL, Hodgkin Lymphona, "								28	33					0	0	1	0	0	C	135979652	T	C	135979652	3	2	265	1	0	0	0	0	1	0	0	0	13068	1667	58	3	1111	3	RALGDS	9	135979652	Missense_Mutation	SNP	T	TCGA-HT-7687-01A-11D-2253-08	17029807	135979652	5233779	42	27621											
ANKRD30A	91074	broad.mit.edu	37	10	37430688	37430688	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr10:37430688C>T	ENST00000374660.1	+	7	794	c.695C>T	c.(694-696)gCg>gTg	p.A232V	ANKRD30A_ENST00000361713.1_Missense_Mutation_p.A232V|ANKRD30A_ENST00000602533.1_Missense_Mutation_p.A232V			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	288						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.A232V(1)		NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						GCACCCTTGGCGGAAAGAACA	0.483													5	68					0	0	1	0	0	T	37430688	C	T	37430688	3	4	265	1	0	0	0	0	1	0	0	0	654	768	27	1	721	1	ANKRD30A	10	37430688	Missense_Mutation	SNP	C	TCGA-HT-7687-01A-11D-2253-08		37430688	98104059	43	27622											
GDF10	2662	broad.mit.edu	37	10	48426631	48426631	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr10:48426631T>C	ENST00000224605.2	-	3	1641	c.1376A>G	c.(1375-1377)aAt>aGt	p.N459S		NM_004962.3	NP_004953.1	P55107	BMP3B_HUMAN	growth differentiation factor 10	459					growth|skeletal system development|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(20)|skin(1)	31						CACATTCCGATTCTCATCCAG	0.582											OREG0020165	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	203					0	0	1	0	0	C	48426631	T	C	48426631	3	2	265	1	0	0	0	0	1	0	0	0	6353	1493	52	3	64	3	GDF10	10	48426631	Missense_Mutation	SNP	T	TCGA-HT-7687-01A-11D-2253-08	10995943	48426631	87108116	44	27623											
ERCC6	2074	broad.mit.edu	37	10	50667030	50667030	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr10:50667030T>C	ENST00000355832.5	-	21	4391	c.4313A>G	c.(4312-4314)cAg>cGg	p.Q1438R	ERCC6_ENST00000542458.1_Missense_Mutation_p.Q808R|RP11-123B3.2_ENST00000423283.1_RNA	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 6	1438					base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding			breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						AGTGTGGGCCTGGAAAGCGAT	0.517								Direct reversal of damage;Nucleotide excision repair (NER)					3	118					0	0	1	0	0	C	50667030	T	C	50667030	3	2	265	1	0	0	0	0	1	0	0	0	5245	1580	55	3	172	3	ERCC6	10	50667030	Missense_Mutation	SNP	T	TCGA-HT-7687-01A-11D-2253-08	2240399	50667030	84867717	45	27624											
VAX1	11023	broad.mit.edu	37	10	118896039	118896039	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr10:118896039C>T	ENST00000277905.2	-	2	617	c.373G>A	c.(373-375)Gtg>Atg	p.V125M	VAX1_ENST00000369206.5_Missense_Mutation_p.V125M	NM_199131.2	NP_954582.1	Q5SQQ9	VAX1_HUMAN	ventral anterior homeobox 1	125						nucleus	sequence-specific DNA binding			endometrium(1)|large_intestine(1)|lung(8)|ovary(2)	12				all cancers(201;0.0108)		CGGCCCACCACGTACTGGCAG	0.667													16	41					0	0	1	0	0	T	118896039	C	T	118896039	3	4	265	1	0	0	0	0	1	0	0	0	17194	536	19	1	779	1	VAX1	10	118896039	Missense_Mutation	SNP	C	TCGA-HT-7687-01A-11D-2253-08	68229009	118896039	16638708	46	27625											
C11orf42	160298	broad.mit.edu	37	11	6231500	6231500	+	Missense_Mutation	SNP	G	G	C			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr11:6231500G>C	ENST00000316375.2	+	2	543	c.493G>C	c.(493-495)Gtc>Ctc	p.V165L		NM_173525.2	NP_775796.2	Q8N5U0	CK042_HUMAN	chromosome 11 open reading frame 42	165										endometrium(3)|kidney(3)|large_intestine(1)|lung(4)|ovary(2)|skin(1)|soft_tissue(1)	15		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.95e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CATCTACCAGGTCTTCTCTTG	0.587													11	156					0	0	1	0	0	C	6231500	G	C	6231500	3	2	265	1	0	0	0	0	1	0	0	0	1646	1261	44	5	499	5	C11orf42	11	6231500	Missense_Mutation	SNP	G	TCGA-HT-7687-01A-11D-2253-08		6231500	128775016	47	27626											
UEVLD	55293	broad.mit.edu	37	11	18568522	18568522	+	Missense_Mutation	SNP	T	T	A			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr11:18568522T>A	ENST00000396197.3	-	8	819	c.791A>T	c.(790-792)gAt>gTt	p.D264V	UEVLD_ENST00000540666.1_5'UTR|UEVLD_ENST00000541984.1_Intron|UEVLD_ENST00000320750.6_Missense_Mutation_p.D242V|UEVLD_ENST00000379387.4_Missense_Mutation_p.D242V|UEVLD_ENST00000535484.1_Missense_Mutation_p.D226V|UEVLD_ENST00000543987.1_Missense_Mutation_p.D264V	NM_001040697.2|NM_001261384.1	NP_001035787.1|NP_001248313.1	Q8IX04	UEVLD_HUMAN	UEV and lactate/malate dehyrogenase domains	264					cellular carbohydrate metabolic process|protein modification process|protein transport		binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						CTGTACCACATCAAGGTACGA	0.458													10	99					0	0	1	0	0	A	18568522	T	A	18568522	3	1	265	1	0	0	0	0	1	0	0	0	16993	1435	50	4	644	4	UEVLD	11	18568522	Missense_Mutation	SNP	T	TCGA-HT-7687-01A-11D-2253-08	12337022	18568522	116437994	48	27627											
OR4A16	81327	broad.mit.edu	37	11	55111416	55111416	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr11:55111416T>C	ENST00000314721.2	+	1	790	c.740T>C	c.(739-741)cTc>cCc	p.L247P		NM_001005274.1	NP_001005274.1	Q8NH70	O4A16_HUMAN	olfactory receptor, family 4, subfamily A, member 16	247					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						GTGGTTGCCCTCGTTTTTGTT	0.398													16	41					0	0	1	0	0	C	55111416	T	C	55111416	3	2	265	1	0	0	0	0	1	0	0	0	11089	1551	54	3	742	3	OR4A16	11	55111416	Missense_Mutation	SNP	T	TCGA-HT-7687-01A-11D-2253-08	36542894	55111416	79895100	49	27628											
SLC22A10	387775	broad.mit.edu	37	11	63064875	63064875	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr11:63064875C>T	ENST00000544661.1	+	4	570	c.142C>T	c.(142-144)Cgc>Tgc	p.R48C	SLC22A10_ENST00000525620.1_3'UTR|SLC22A10_ENST00000535888.1_5'UTR|SLC22A10_ENST00000332793.6_Missense_Mutation_p.R203C|SLC22A10_ENST00000526800.1_Intron			Q63ZE4	S22AA_HUMAN	solute carrier family 22, member 10	203						integral to membrane	transmembrane transporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CTGTGTACTACGCTTCTTGGC	0.408													4	130					0	0	1	0	0	T	63064875	C	T	63064875	3	4	265	1	0	0	0	0	1	0	0	0	14496	536	19	1	617	1	SLC22A10	11	63064875	Missense_Mutation	SNP	C	TCGA-HT-7687-01A-11D-2253-08	7953459	63064875	71941641	50	27629											
DCN	1634	broad.mit.edu	37	12	91546948	91546948	+	Missense_Mutation	SNP	G	G	A	rs144174426		TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr12:91546948G>A	ENST00000052754.5	-	6	1172	c.671C>T	c.(670-672)aCg>aTg	p.T224M	DCN_ENST00000303320.3_Intron|DCN_ENST00000552962.1_Missense_Mutation_p.T224M|DCN_ENST00000425043.1_Missense_Mutation_p.T77M|DCN_ENST00000228329.5_Missense_Mutation_p.T115M|DCN_ENST00000393155.1_Missense_Mutation_p.T224M|DCN_ENST00000441303.2_Intron|DCN_ENST00000420120.2_Missense_Mutation_p.T115M|DCN_ENST00000547568.2_Missense_Mutation_p.T77M|DCN_ENST00000456569.2_Intron	NM_001920.3	NP_001911.1	P07585	PGS2_HUMAN	decorin	224					organ morphogenesis	extracellular space		p.T224M(1)		central_nervous_system(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|skin(1)	20						ATGTAATTCCGTAAGGGAAGG	0.348													7	122					0	0	1	0	0	A	91546948	G	A	91546948	3	1	265	1	0	0	0	0	1	0	0	0	4320	1145	40	1	420	1	DCN	12	91546948	Missense_Mutation	SNP	G	TCGA-HT-7687-01A-11D-2253-08		91546948	42304947	51	27630											
MYO1H	283446	broad.mit.edu	37	12	109835562	109835562	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr12:109835562G>A	ENST00000310903.5	+	5	573	c.467G>A	c.(466-468)cGg>cAg	p.R156Q	MYO1H_ENST00000431443.2_Missense_Mutation_p.R156Q			B4DNW6	B4DNW6_HUMAN	myosin IH	0						myosin complex	motor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(17)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	47						AGAACGCTCCGGAATGACAAC	0.408													3	40					0	0	1	0	0	A	109835562	G	A	109835562	3	1	265	1	0	0	0	0	1	0	0	0	10123	1116	39	1	481	1	MYO1H	12	109835562	Missense_Mutation	SNP	G	TCGA-HT-7687-01A-11D-2253-08	18288614	109835562	24016333	52	27631											
CUX2	23316	broad.mit.edu	37	12	111729277	111729277	+	Silent	SNP	C	C	T			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr12:111729277C>T	ENST00000261726.6	+	5	511	c.357C>T	c.(355-357)ccC>ccT	p.P119P		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	119						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						TGCAGCCCCCCAGCTTTGACC	0.617													8	108					0	0	1	0	0	T	111729277	C	T	111729277	2	4	265	1	0	0	0	0	0	0	0	1	4088	581	21	2		2	CUX2	12	111729277	Silent	SNP	C	TCGA-HT-7687-01A-11D-2253-08	1893715	111729277	22122618	53	27632											
PRKD1	5587	broad.mit.edu	37	14	30105555	30105555	+	Silent	SNP	G	G	A			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr14:30105555G>A	ENST00000331968.5	-	7	1360	c.1131C>T	c.(1129-1131)aaC>aaT	p.N377N	PRKD1_ENST00000415220.2_Silent_p.N385N	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	377					cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		CGCCACTGTCGTTCTGGCACT	0.542													97	173					0	0	1	0	0	A	30105555	G	A	30105555	2	1	265	1	0	0	0	0	0	0	0	1	12570	1136	40	1		1	PRKD1	14	30105555	Silent	SNP	G	TCGA-HT-7687-01A-11D-2253-08		30105555	77243985	54	27633											
CLEC14A	161198	broad.mit.edu	37	14	38724727	38724727	+	Silent	SNP	G	G	A			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr14:38724727G>A	ENST00000342213.2	-	1	847	c.501C>T	c.(499-501)aaC>aaT	p.N167N		NM_175060.2	NP_778230.1	Q86T13	CLC14_HUMAN	C-type lectin domain family 14, member A	167	C-type lectin.					integral to membrane	sugar binding	p.N167N(1)		breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)		ACAGGTAGCCGTTGGCGCGCA	0.682													4	74					0	0	1	0	0	A	38724727	G	A	38724727	2	1	265	1	0	0	0	0	0	0	0	1	3522	1136	40	1		1	CLEC14A	14	38724727	Silent	SNP	G	TCGA-HT-7687-01A-11D-2253-08	8619172	38724727	68624813	55	27634											
NEO1	4756	broad.mit.edu	37	15	73541990	73541990	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr15:73541990C>T	ENST00000339362.5	+	12	2269	c.1822C>T	c.(1822-1824)Cga>Tga	p.R608*	NEO1_ENST00000558964.1_Nonsense_Mutation_p.R608*|NEO1_ENST00000560262.1_Nonsense_Mutation_p.R608*|NEO1_ENST00000261908.6_Nonsense_Mutation_p.R608*			Q92859	NEO1_HUMAN	neogenin 1	608	Fibronectin type-III 2.				axon guidance|cell adhesion|positive regulation of muscle cell differentiation	Golgi apparatus|integral to plasma membrane|nucleus				NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	57						GTATAGTTTCCGAGTGGTGGC	0.378													4	117					0	0	1	0	0	T	73541990	C	T	73541990	4	4	265	1	0	0	0	0	0	1	0	0	10383	644	23	1	1864	1	NEO1	15	73541990	Nonsense_Mutation	SNP	C	TCGA-HT-7687-01A-11D-2253-08		73541990	28989402	56	27635											
NAGPA	51172	broad.mit.edu	37	16	5081777	5081777	+	Silent	SNP	T	T	C			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr16:5081777T>C	ENST00000312251.3	-	3	670	c.651A>G	c.(649-651)caA>caG	p.Q217Q	NAGPA_ENST00000381955.3_Silent_p.Q217Q|RP11-165E7.1_ENST00000588778.1_RNA	NM_016256.3	NP_057340.2	Q9UK23	NAGPA_HUMAN	N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase	217					carbohydrate metabolic process|lysosome organization|protein modification process|protein targeting to lysosome	Golgi cisterna membrane|integral to membrane	N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase activity			endometrium(4)|large_intestine(4)|lung(3)|urinary_tract(1)	12					N-Acetyl-D-glucosamine(DB00141)	ACTCTGTGGCTTGGCTCTCGT	0.572													147	222					0	0	1	0	0	C	5081777	T	C	5081777	2	2	265	1	0	0	0	0	0	0	0	1	10192	1606	56	3		3	NAGPA	16	5081777	Silent	SNP	T	TCGA-HT-7687-01A-11D-2253-08		5081777	85272976	57	27636											
PDP2	57546	broad.mit.edu	37	16	66919576	66919576	+	Silent	SNP	C	C	T			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr16:66919576C>T	ENST00000311765.2	+	2	1723	c.1389C>T	c.(1387-1389)ctC>ctT	p.L463L	PDP2_ENST00000568720.1_Intron	NM_020786.2	NP_065837.1	Q9P2J9	PDP2_HUMAN	pyruvate dehyrogenase phosphatase catalytic subunit 2	463					pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix|protein serine/threonine phosphatase complex	[pyruvate dehydrogenase (lipoamide)] phosphatase activity|metal ion binding			kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	12		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.088)|Epithelial(162;0.204)		CCAGCGGGCTCCACGAGGCTG	0.617													9	10					0	0	1	0	0	T	66919576	C	T	66919576	2	4	265	1	0	0	0	0	0	0	0	1	11733	842	30	2		2	PDP2	16	66919576	Silent	SNP	C	TCGA-HT-7687-01A-11D-2253-08	61837799	66919576	23435177	58	27637											
PKD1L2	114780	broad.mit.edu	37	16	81161555	81161555	+	RNA	SNP	G	G	T			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr16:81161555G>T	ENST00000533478.1	-	0	4215				PKD1L2_ENST00000534142.1_RNA|PKD1L2_ENST00000525539.1_RNA	NM_001278425.1	NP_001265354.1	Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						TATGGTGCACGGCATCCGTTG	0.567													3	44					0.00909568	0.00928717	1	1	0	T	81161555	G	T	81161555	1	4	265	0	1	0	0	0	0	0	0	0	12013	1116	39	5		5	PKD1L2	16	81161555	RNA	SNP	G	TCGA-HT-7687-01A-11D-2253-08	14241979	81161555	9193198	59	27638											
MINK1	50488	broad.mit.edu	37	17	4797498	4797498	+	Silent	SNP	T	T	C			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr17:4797498T>C	ENST00000355280.6	+	23	2896	c.2700T>C	c.(2698-2700)caT>caC	p.H900H	MINK1_ENST00000347992.7_Silent_p.H871H|MINK1_ENST00000453408.3_Silent_p.H880H	NM_001024937.3|NM_015716.4|NM_153827.4	NP_001020108.1|NP_056531.1|NP_722549.2	Q8N4C8	MINK1_HUMAN	misshapen-like kinase 1	900	Mediates interaction with RAP2A.				JNK cascade	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)|stomach(1)	6						ACCTGCTGCATGCTGACAGCA	0.622													40	99					0	0	1	0	0	C	4797498	T	C	4797498	2	2	265	1	0	0	0	0	0	0	0	1	9635	1461	51	3		3	MINK1	17	4797498	Silent	SNP	T	TCGA-HT-7687-01A-11D-2253-08		4797498	76397712	60	27639											
DDX5	1655	broad.mit.edu	37	17	62500099	62500102	+	Splice_Site	DEL	ACAG	ACAG	-			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr17:62500099_62500102delACAG	ENST00000225792.5	-	4	841_843	c.440_442delCTGT	c.(439-444)tctgta>tta	p.SV147fs	DDX5_ENST00000450599.2_Intron|DDX5_ENST00000578804.1_Splice_Site_p.SV147fs	NM_004396.3	NP_004387.1	P17844	DDX5_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 5	147	Helicase ATP-binding.				cell growth|regulation of alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|mRNA binding|protein binding|RNA helicase activity|transcription cofactor activity			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	19	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;8.6e-12)			TCCCAAACTTACAGACAATGTTTT	0.397			T	ETV4	prostate								118	248	---	---	---	---						-	62500102	ACAG	-	62500099	8	5	265	1	0	1	0	1	0	0	1	0	4390	405	14	0	1441	0	DDX5	17	62500099	Splice_Site	DEL	ACAG	TCGA-HT-7687-01A-11D-2253-08	57702601	62500099	18695111	61	27640											
MYOM1	8736	broad.mit.edu	37	18	3135615	3135615	+	Silent	SNP	G	G	A			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr18:3135615G>A	ENST00000400569.3	-	15	2472	c.2139C>T	c.(2137-2139)cgC>cgT	p.R713R	MYOM1_ENST00000356443.4_Silent_p.R713R|MYOM1_ENST00000261606.7_Silent_p.R713R			P52179	MYOM1_HUMAN	myomesin 1	713	Fibronectin type-III 2.					striated muscle myosin thick filament	structural constituent of muscle			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						AATTAGAACAGCGGACACGGA	0.512													3	52					0	0	1	0	0	A	3135615	G	A	3135615	2	1	265	1	0	0	0	0	0	0	0	1	10139	958	34	2		2	MYOM1	18	3135615	Silent	SNP	G	TCGA-HT-7687-01A-11D-2253-08		3135615	74941633	62	27641											
AQP4	361	broad.mit.edu	37	18	24442317	24442317	+	Silent	SNP	G	G	A			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr18:24442317G>A	ENST00000383168.4	-	2	404	c.276C>T	c.(274-276)agC>agT	p.S92S	AQP4_ENST00000440832.3_Silent_p.S70S|AQP4-AS1_ENST00000582605.1_RNA|AQP4_ENST00000581374.1_Silent_p.S70S|AQP4-AS1_ENST00000579964.1_RNA	NM_001650.4|NM_004028.3	NP_001641.1|NP_004019.1	P55087	AQP4_HUMAN	aquaporin 4	92					cellular response to interferon-gamma|excretion|nervous system development	cytoplasm|external side of plasma membrane|integral to plasma membrane	water channel activity			kidney(2)|large_intestine(3)|lung(5)|skin(1)	11	all_cancers(21;0.0172)|Lung NSC(5;0.00299)|all_lung(6;0.00747)|Ovarian(20;0.124)					TGTGGCCACCGCTGATATGGC	0.557													5	130					0	0	1	0	0	A	24442317	G	A	24442317	2	1	265	1	0	0	0	0	0	0	0	1	825	1078	38	1		1	AQP4	18	24442317	Silent	SNP	G	TCGA-HT-7687-01A-11D-2253-08	21306702	24442317	53634931	63	27642											
TNFSF14	8740	broad.mit.edu	37	19	6670062	6670062	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr19:6670062G>A	ENST00000326176.9	-	2	400	c.19C>T	c.(19-21)Cgg>Tgg	p.R7W	TNFSF14_ENST00000599359.1_Missense_Mutation_p.R7W|TNFSF14_ENST00000245912.3_Missense_Mutation_p.R7W	NM_003807.3|NM_172014.2	NP_003798.2|NP_742011.2	O43557	TNF14_HUMAN	tumor necrosis factor (ligand) superfamily, member 14	7					cellular response to mechanical stimulus|immune response|induction of apoptosis|release of cytoplasmic sequestered NF-kappaB|T cell homeostasis|T cell proliferation	cytoplasm|extracellular space|integral to membrane|plasma membrane	caspase inhibitor activity|cytokine activity|tumor necrosis factor receptor binding			breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18						ACTGAGGGCCGTACGACACTC	0.602													4	89					0	0	1	0	0	A	6670062	G	A	6670062	3	1	265	1	0	0	0	0	1	0	0	0	16367	1144	40	1	719	1	TNFSF14	19	6670062	Missense_Mutation	SNP	G	TCGA-HT-7687-01A-11D-2253-08		6670062	52458921	64	27643											
LPHN1	22859	broad.mit.edu	37	19	14271032	14271032	+	Silent	SNP	G	G	A	rs150872915		TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr19:14271032G>A	ENST00000340736.6	-	9	2004	c.1707C>T	c.(1705-1707)gaC>gaT	p.D569D	CTB-55O6.12_ENST00000588387.1_RNA|LPHN1_ENST00000361434.3_Silent_p.D564D|CTB-55O6.12_ENST00000592086.1_RNA	NM_001008701.2	NP_001008701.1	O94910	LPHN1_HUMAN	latrophilin 1	569					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						AGGAGGAGACGTCCCCCGCGT	0.662													4	134					0	0	1	0	0	A	14271032	G	A	14271032	2	1	265	1	0	0	0	0	0	0	0	1	8960	1136	40	1		1	LPHN1	19	14271032	Silent	SNP	G	TCGA-HT-7687-01A-11D-2253-08	7600970	14271032	44857951	65	27644											
LRRC4B	94030	broad.mit.edu	37	19	51022537	51022537	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr19:51022537G>A	ENST00000599957.1	-	3	630	c.433C>T	c.(433-435)Cgg>Tgg	p.R145W	LRRC4B_ENST00000389201.3_Missense_Mutation_p.R145W			Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B	145						cell junction|integral to membrane|presynaptic membrane				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	30		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		GTGGTCAGCCGGTTGTCAAAA	0.622													46	25					0	0	1	0	0	A	51022537	G	A	51022537	3	1	265	1	0	0	0	0	1	0	0	0	9052	1115	39	1	1712	1	LRRC4B	19	51022537	Missense_Mutation	SNP	G	TCGA-HT-7687-01A-11D-2253-08	36751505	51022537	8106446	66	27645											
DEFB119	245932	broad.mit.edu	37	20	29976970	29976970	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr20:29976970C>T	ENST00000376315.2	-	2	124	c.125G>A	c.(124-126)cGc>cAc	p.R42H	DEFB119_ENST00000492344.1_Intron|DEFB119_ENST00000376321.3_Intron|DEFB119_ENST00000339144.3_Intron	NM_001271209.1|NM_153323.4	NP_001258138.1|NP_697018.1	Q8N690	DB119_HUMAN	defensin, beta 119	48					defense response to bacterium	extracellular region				large_intestine(2)|lung(1)|prostate(1)	4	all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			ATTTCGGCAGCGTATGATGCT	0.453													13	177					0	0	1	0	0	T	29976970	C	T	29976970	3	4	265	1	0	0	0	0	1	0	0	0	4434	768	27	1	387	1	DEFB119	20	29976970	Missense_Mutation	SNP	C	TCGA-HT-7687-01A-11D-2253-08		29976970	33048550	67	27646											
FAM83D	81610	broad.mit.edu	37	20	37580213	37580213	+	Missense_Mutation	SNP	A	A	C			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr20:37580213A>C	ENST00000217429.4	+	4	939	c.898A>C	c.(898-900)Agt>Cgt	p.S300R		NM_030919.2	NP_112181.2	Q9H4H8	FA83D_HUMAN	family with sequence similarity 83, member D	270					cell division|mitosis	cytoplasm|spindle pole				endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)|stomach(1)	28		Myeloproliferative disorder(115;0.00878)				ATTAAACAGCAGTAACTTGGT	0.428													4	75					0	0	1	0	0	C	37580213	A	C	37580213	3	2	265	1	0	0	0	0	1	0	0	0	5668	188	7	5	912	5	FAM83D	20	37580213	Missense_Mutation	SNP	A	TCGA-HT-7687-01A-11D-2253-08	7603243	37580213	25445307	68	27647											
CSTF1	1477	broad.mit.edu	37	20	54974333	54974333	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr20:54974333A>G	ENST00000217109.4	+	5	1308	c.956A>G	c.(955-957)aAa>aGa	p.K319R	CSTF1_ENST00000493039.1_3'UTR	NM_001033521.1|NM_001324.2	NP_001028693.1|NP_001315.1	Q05048	CSTF1_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 1, 50kDa	319					mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	protein binding|RNA binding			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	15			Colorectal(105;0.202)			AAAAATTCTAAATACATTCTC	0.388													6	84					0	0	1	0	0	G	54974333	A	G	54974333	3	3	265	1	0	0	0	0	1	0	0	0	4008	14	1	3	970	3	CSTF1	20	54974333	Missense_Mutation	SNP	A	TCGA-HT-7687-01A-11D-2253-08	17394120	54974333	8051187	69	27648											
TIAM1	7074	broad.mit.edu	37	21	32589897	32589897	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr21:32589897T>C	ENST00000286827.3	-	10	2585	c.2114A>G	c.(2113-2115)aAg>aGg	p.K705R	TIAM1_ENST00000541036.1_Missense_Mutation_p.K705R|TIAM1_ENST00000469412.1_5'UTR	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	705					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						TCCCTGCTTCTTTTTGGAGGT	0.522													84	91					0	0	1	0	0	C	32589897	T	C	32589897	3	2	265	1	0	0	0	0	1	0	0	0	15950	1609	56	3	2741	3	TIAM1	21	32589897	Missense_Mutation	SNP	T	TCGA-HT-7687-01A-11D-2253-08		32589897	15539998	70	27649											
KRTAP10-8	386681	broad.mit.edu	37	21	46032410	46032410	+	Silent	SNP	C	C	T			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr21:46032410C>T	ENST00000334662.2	+	1	415	c.393C>T	c.(391-393)ccC>ccT	p.P131P	TSPEAR_ENST00000323084.4_Intron	NM_198695.2	NP_941968.2	P60410	KR108_HUMAN	keratin associated protein 10-8	131	19 X 5 AA repeats of C-C-X(3).					keratin filament				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	17						GCTGCAAGCCCGTGTGCTGCG	0.632													6	272					0	0	1	0	0	T	46032410	C	T	46032410	2	4	265	1	0	0	0	0	0	0	0	1	8558	639	23	1		1	KRTAP10-8	21	46032410	Silent	SNP	C	TCGA-HT-7687-01A-11D-2253-08	13442513	46032410	2097485	71	27650											
CDKL5	6792	broad.mit.edu	37	X	18646678	18646678	+	Missense_Mutation	SNP	C	C	A			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chrX:18646678C>A	ENST00000379989.3	+	19	2969	c.2684C>A	c.(2683-2685)cCg>cAg	p.P895Q	CDKL5_ENST00000379996.3_Missense_Mutation_p.P895Q	NM_001037343.1	NP_001032420.1	O76039	CDKL5_HUMAN	cyclin-dependent kinase-like 5	895					neuron migration|positive regulation of axon extension|positive regulation of dendrite morphogenesis|positive regulation of Rac GTPase activity|protein autophosphorylation	dendrite cytoplasm|dendritic growth cone|nucleus	ATP binding|cyclin-dependent protein kinase activity|Rac GTPase binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1)	44	Hepatocellular(33;0.183)					GAACCCGCACCGAAGGGCAGG	0.577													3	64					1	1	1	1	0	A	18646678	C	A	18646678	3	1	265	1	0	0	0	0	1	0	0	0	3179	652	23	5	2750	5	CDKL5	23	18646678	Missense_Mutation	SNP	C	TCGA-HT-7687-01A-11D-2253-08		18646678	136623882	72	27651											
IL13RA1	3597	broad.mit.edu	37	X	117900529	117900529	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chrX:117900529A>G	ENST00000371666.3	+	7	932	c.865A>G	c.(865-867)Aga>Gga	p.R289G	IL13RA1_ENST00000481868.1_3'UTR	NM_001560.2	NP_001551.1	P78552	I13R1_HUMAN	interleukin 13 receptor, alpha 1	289						interleukin-13 receptor complex	cytokine receptor activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(7)	12						AGAATTTGAGAGAAATGTGGA	0.338													5	55					0	0	1	0	0	G	117900529	A	G	117900529	3	3	265	1	0	0	0	0	1	0	0	0	7673	296	11	3	891	3	IL13RA1	23	117900529	Missense_Mutation	SNP	A	TCGA-HT-7687-01A-11D-2253-08	99253851	117900529	37370031	73	27652											
TAS1R2	80834	broad.mit.edu	37	1	19181078	19181078	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr1:19181078C>T	ENST00000375371.3	-	3	907	c.886G>A	c.(886-888)Gcc>Acc	p.A296T	RP13-279N23.2_ENST00000494072.3_3'UTR	NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2	296					detection of chemical stimulus involved in sensory perception of sweet taste	plasma membrane	protein heterodimerization activity|taste receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	ATCCACACGGCGCCAGTGAAG	0.637													11	43					0	0	1	0	0	T	19181078	C	T	19181078	3	4	266	1	0	0	0	0	1	0	0	0	15620	768	27	1	1649	1	TAS1R2	1	19181078	Missense_Mutation	SNP	C	TCGA-HT-7688-01A-11D-2253-08		19181078	230069543	1	27653											
ARID1A	8289	broad.mit.edu	37	1	27100176	27100176	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr1:27100176delC	ENST00000324856.7	+	16	4343	c.3972delC	c.(3970-3972)tacfs	p.Y1324fs	ARID1A_ENST00000457599.2_Frame_Shift_Del_p.Y1324fs|ARID1A_ENST00000540690.1_5'UTR|ARID1A_ENST00000374152.2_Frame_Shift_Del_p.Y941fs	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1324					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	p.Y1324*(1)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CTAGCCGCTACCCCCCgcagc	0.597			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"								23	131	---	---	---	---						-	27100176	C	-	27100176	7	5	266	1	0	1	0	1	0	0	0	0	910	518	18	0	4034	0	ARID1A	1	27100176	Frame_Shift_Del	DEL	C	TCGA-HT-7688-01A-11D-2253-08	7919098	27100176	222150445	2	27654											
SNRNP40	9410	broad.mit.edu	37	1	31744294	31744294	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr1:31744294T>C	ENST00000263694.4	-	6	725	c.707A>G	c.(706-708)gAt>gGt	p.D236G	SNRNP40_ENST00000489853.1_5'UTR|SNRNP40_ENST00000446633.2_Missense_Mutation_p.D236G	NM_004814.2	NP_004805.2	Q96DI7	SNR40_HUMAN	small nuclear ribonucleoprotein 40kDa (U5)	236						catalytic step 2 spliceosome|cytoplasm|nucleoplasm|small nucleolar ribonucleoprotein complex|U5 snRNP	protein binding			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	7						AGTCACTGAATCTGCATGGCC	0.448													7	51					0	0	1	0	0	C	31744294	T	C	31744294	3	2	266	1	0	0	0	0	1	0	0	0	14910	1435	50	3	386	3	SNRNP40	1	31744294	Missense_Mutation	SNP	T	TCGA-HT-7688-01A-11D-2253-08	4644118	31744294	217506327	3	27655											
RLF	6018	broad.mit.edu	37	1	40702367	40702367	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr1:40702367C>G	ENST00000372771.4	+	8	2020	c.1993C>G	c.(1993-1995)Ctg>Gtg	p.L665V		NM_012421.3	NP_036553.2	Q13129	RLF_HUMAN	rearranged L-myc fusion	665					chromosome organization|DNA integration|DNA mediated transformation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2)	68	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)			AGATTGCCACCTGCAAGACAG	0.418													39	88					0	0	1	0	0	G	40702367	C	G	40702367	3	3	266	1	0	0	0	0	1	0	0	0	13441	680	24	4	2023	4	RLF	1	40702367	Missense_Mutation	SNP	C	TCGA-HT-7688-01A-11D-2253-08	8958073	40702367	208548254	4	27656											
CYP4Z1	199974	broad.mit.edu	37	1	47533183	47533183	+	Missense_Mutation	SNP	G	G	C			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr1:47533183G>C	ENST00000334194.3	+	1	24	c.21G>C	c.(19-21)caG>caC	p.Q7H		NM_178134.2	NP_835235.1	Q86W10	CP4Z1_HUMAN	cytochrome P450, family 4, subfamily Z, polypeptide 1	7						endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			cervix(1)|large_intestine(4)|lung(4)|skin(1)|stomach(1)	11						CCTGGCTTCAGGAACTCATGG	0.522													11	16					0	0	1	0	0	C	47533183	G	C	47533183	3	2	266	1	0	0	0	0	1	0	0	0	4217	991	35	4	23	4	CYP4Z1	1	47533183	Missense_Mutation	SNP	G	TCGA-HT-7688-01A-11D-2253-08	6830816	47533183	201717438	5	27657											
PTGER3	5733	broad.mit.edu	37	1	71418728	71418728	+	Missense_Mutation	SNP	C	C	A			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr1:71418728C>A	ENST00000356595.4	-	4	1329	c.1119G>T	c.(1117-1119)ttG>ttT	p.L373F	PTGER3_ENST00000351052.5_Intron|PTGER3_ENST00000370932.2_Intron|PTGER3_ENST00000354608.5_Intron|PTGER3_ENST00000460330.1_Intron|PTGER3_ENST00000414819.1_3'UTR|PTGER3_ENST00000370931.3_Intron	NM_198718.1	NP_942011.1	P43115	PE2R3_HUMAN	prostaglandin E receptor 3 (subtype EP3)	0					cell death|positive regulation of fever generation|transcription, DNA-dependent	integral to plasma membrane|nuclear envelope	ligand-dependent nuclear receptor activity|prostaglandin E receptor activity			endometrium(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25					Bimatoprost(DB00905)	gagagttctgcaaactgcaga	0.338													3	74					1	1	1	1	0	A	71418728	C	A	71418728	3	1	266	1	0	0	0	0	1	0	0	0	12794	709	25	5	166	5	PTGER3	1	71418728	Missense_Mutation	SNP	C	TCGA-HT-7688-01A-11D-2253-08	23885545	71418728	177831893	6	27658											
AGL	178	broad.mit.edu	37	1	100353559	100353559	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr1:100353559G>A	ENST00000294724.4	+	21	3185	c.2707G>A	c.(2707-2709)Gag>Aag	p.E903K	AGL_ENST00000361915.3_Missense_Mutation_p.E903K|AGL_ENST00000361522.4_Missense_Mutation_p.E886K|AGL_ENST00000370163.3_Missense_Mutation_p.E903K|AGL_ENST00000370165.3_Missense_Mutation_p.E903K|AGL_ENST00000370161.2_Missense_Mutation_p.E887K|AGL_ENST00000361302.3_Missense_Mutation_p.E887K	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase	903					glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|isoamylase complex|nucleus	4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		AACTTTGGCTGAGCTAAATCA	0.373													5	44					0	0	1	0	0	A	100353559	G	A	100353559	3	1	266	1	0	0	0	0	1	0	0	0	381	1291	45	2	2854	2	AGL	1	100353559	Missense_Mutation	SNP	G	TCGA-HT-7688-01A-11D-2253-08	28934831	100353559	148897062	7	27659											
SYCP1	6847	broad.mit.edu	37	1	115487052	115487052	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr1:115487052A>G	ENST00000369522.3	+	24	2259	c.2019A>G	c.(2017-2019)atA>atG	p.I673M	SYCP1_ENST00000369518.1_Missense_Mutation_p.I673M	NM_001282541.1|NM_003176.2	NP_001269470.1|NP_003167.2	Q15431	SYCP1_HUMAN	synaptonemal complex protein 1	673					cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding		RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		ACAAAAAGATATCAGAAGAAA	0.279													4	23					0	0	1	0	0	G	115487052	A	G	115487052	3	3	266	1	0	0	0	0	1	0	0	0	15488	439	16	3	2109	3	SYCP1	1	115487052	Missense_Mutation	SNP	A	TCGA-HT-7688-01A-11D-2253-08	15133493	115487052	133763569	8	27660											
HIST2H2AB	317772	broad.mit.edu	37	1	149859423	149859423	+	Missense_Mutation	SNP	G	G	C			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr1:149859423G>C	ENST00000331128.3	-	1	43	c.44C>G	c.(43-45)gCc>gGc	p.A15G		NM_175065.2	NP_778235.1	Q8IUE6	H2A2B_HUMAN	histone cluster 2, H2ab	15					nucleosome assembly	nucleosome|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	15	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			GCGCGACTTGGCCTTAGCGCG	0.602													4	164					0	0	1	0	0	C	149859423	G	C	149859423	3	2	266	1	0	0	0	0	1	0	0	0	7218	1203	42	5	352	5	HIST2H2AB	1	149859423	Missense_Mutation	SNP	G	TCGA-HT-7688-01A-11D-2253-08	34372371	149859423	99391198	9	27661											
FLG2	388698	broad.mit.edu	37	1	152323513	152323513	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr1:152323513C>G	ENST00000388718.5	-	3	6821	c.6749G>C	c.(6748-6750)aGa>aCa	p.R2250T	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	2250							calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGATCCCCTTCTTCCAGTTGT	0.522													14	638					0	0	1	0	0	G	152323513	C	G	152323513	3	3	266	1	0	0	0	0	1	0	0	0	5956	913	32	4	430	4	FLG2	1	152323513	Missense_Mutation	SNP	C	TCGA-HT-7688-01A-11D-2253-08	2464090	152323513	96927108	10	27662											
SPRR2F	6705	broad.mit.edu	37	1	153085129	153085129	+	Silent	SNP	A	A	G			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr1:153085129A>G	ENST00000468739.1	-	2	141	c.81T>C	c.(79-81)tgT>tgC	p.C27C	SPRR2B_ENST00000368752.4_Intron	NM_001014450.1	NP_001014450.1	Q96RM1	SPR2F_HUMAN	small proline-rich protein 2F	27	3 X 9 AA tandem repeats of [PS]-K-C-P- [EQ]-[PS]-C-P-P.				keratinization	cornified envelope|cytoplasm				large_intestine(1)|lung(1)|prostate(1)|urinary_tract(1)	4	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			TCGGGGGTGGACATGGCTCTG	0.607													6	333					0	0	1	0	0	G	153085129	A	G	153085129	2	3	266	1	0	0	0	0	0	0	0	1	15157	273	10	3		3	SPRR2F	1	153085129	Silent	SNP	A	TCGA-HT-7688-01A-11D-2253-08	761616	153085129	96165492	11	27663											
CD1B	910	broad.mit.edu	37	1	158299224	158299224	+	Silent	SNP	C	C	T			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr1:158299224C>T	ENST00000368168.3	-	4	929	c.822G>A	c.(820-822)gcG>gcA	p.A274A		NM_001764.2	NP_001755.1	P29016	CD1B_HUMAN	CD1b molecule	274	Ig-like.				antigen processing and presentation|immune response	endosome membrane|integral to membrane|lysosomal membrane|plasma membrane	protein binding			breast(2)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	30	all_hematologic(112;0.0378)					ACAGGCCAGCCGCCTCCCCAT	0.582													5	214					0	0	1	0	0	T	158299224	C	T	158299224	2	4	266	1	0	0	0	0	0	0	0	1	2997	639	23	1		1	CD1B	1	158299224	Silent	SNP	C	TCGA-HT-7688-01A-11D-2253-08	5214095	158299224	90951397	12	27664											
CD1E	913	broad.mit.edu	37	1	158325321	158325321	+	Missense_Mutation	SNP	G	G	A	rs142840776		TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr1:158325321G>A	ENST00000444681.2	+	2	583	c.290G>A	c.(289-291)gGg>gAg	p.G97E	CD1E_ENST00000368164.3_Intron|CD1E_ENST00000368166.3_Intron|CD1E_ENST00000368165.3_Intron|CD1E_ENST00000368155.3_Intron|CD1E_ENST00000368161.3_Missense_Mutation_p.G196E|CD1E_ENST00000368160.3_Missense_Mutation_p.G196E|CD1E_ENST00000368154.1_Intron|CD1E_ENST00000368167.3_Missense_Mutation_p.G196E|CD1E_ENST00000452291.2_Intron|CD1E_ENST00000368163.3_Missense_Mutation_p.G196E|CD1E_ENST00000434258.1_Missense_Mutation_p.G194E|CD1E_ENST00000368157.1_Intron|CD1E_ENST00000368156.1_Intron	NM_001185114.1	NP_001172043.1	P15812	CD1E_HUMAN	CD1e molecule	196					antigen processing and presentation|immune response	early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen		p.G196E(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					TTTCTAGCGGGGCTCATGGAA	0.473													4	38					0	0	1	0	0	A	158325321	G	A	158325321	3	1	266	1	0	0	0	0	1	0	0	0	3000	1232	43	2	597	2	CD1E	1	158325321	Missense_Mutation	SNP	G	TCGA-HT-7688-01A-11D-2253-08	26097	158325321	90925300	13	27665											
SCYL3	57147	broad.mit.edu	37	1	169823532	169823532	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr1:169823532A>G	ENST00000367771.6	-	12	2100	c.1886T>C	c.(1885-1887)aTt>aCt	p.I629T	SCYL3_ENST00000367772.4_Missense_Mutation_p.I683T|SCYL3_ENST00000367770.1_Missense_Mutation_p.I683T	NM_020423.6	NP_065156.5	Q8IZE3	PACE1_HUMAN	SCY1-like 3 (S. cerevisiae)		Interaction with EZR.				cell migration	Golgi apparatus|lamellipodium	ATP binding|protein binding|protein kinase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					AGAAGGCTTAATTTCTGGGAT	0.393													6	109					0	0	1	0	0	G	169823532	A	G	169823532	3	3	266	1	0	0	0	0	1	0	0	0	14003	101	4	3	188	3	SCYL3	1	169823532	Missense_Mutation	SNP	A	TCGA-HT-7688-01A-11D-2253-08	11498211	169823532	79427089	14	27666											
OBSCN	84033	broad.mit.edu	37	1	228492063	228492063	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr1:228492063G>A	ENST00000570156.2	+	53	14136	c.14062G>A	c.(14062-14064)Gcc>Acc	p.A4688T	OBSCN_ENST00000284548.11_Intron|OBSCN_ENST00000422127.1_Intron|OBSCN_ENST00000359599.6_3'UTR|OBSCN_ENST00000366709.4_Intron|OBSCN_ENST00000366707.4_Missense_Mutation_p.A1378T	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	3731	Ig-like 47.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				AGGGGCCACGGCCACACTGCA	0.582													7	147					0	0	1	0	0	A	228492063	G	A	228492063	3	1	266	1	0	0	0	0	1	0	0	0	10860	1218	42	2		2	OBSCN	1	228492063	Missense_Mutation	SNP	G	TCGA-HT-7688-01A-11D-2253-08	58668531	228492063	20758558	15	27667											
OR2M7	391196	broad.mit.edu	37	1	248486965	248486965	+	Missense_Mutation	SNP	C	C	A			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr1:248486965C>A	ENST00000317965.2	-	1	934	c.906G>T	c.(904-906)atG>atT	p.M302I		NM_001004691.1	NP_001004691.1	Q8NG81	OR2M7_HUMAN	olfactory receptor, family 2, subfamily M, member 7	302					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.M302I(1)		breast(1)|endometrium(6)|large_intestine(3)|lung(29)|skin(3)	42	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CTAAGATTTTCATTAATGCTC	0.403													6	52					0.000274275	0.000279516	1	1	0	A	248486965	C	A	248486965	3	1	266	1	0	0	0	0	1	0	0	0	11062	826	29	5	35	5	OR2M7	1	248486965	Missense_Mutation	SNP	C	TCGA-HT-7688-01A-11D-2253-08	19994902	248486965	763656	16	27668											
CAD	790	broad.mit.edu	37	2	27462334	27462334	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr2:27462334delG	ENST00000264705.4	+	33	5551	c.5389delG	c.(5389-5391)gggfs	p.G1797fs	CAD_ENST00000403525.1_Frame_Shift_Del_p.G1734fs	NM_004341.3	NP_004332.2	P27708	PYR1_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	1797	Linker.				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	CTATATCGATGGGCAGGTACG	0.567													25	69	---	---	---	---						-	27462334	G	-	27462334	7	5	266	1	0	1	0	1	0	0	0	0	2583	1348	47	0	5519	0	CAD	2	27462334	Frame_Shift_Del	DEL	G	TCGA-HT-7688-01A-11D-2253-08		27462334	215737039	17	27669											
ANTXR1	84168	broad.mit.edu	37	2	69297779	69297779	+	Splice_Site	SNP	A	A	G			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr2:69297779A>G	ENST00000303714.4	+	4	619	c.297A>G	c.(295-297)agA>agG	p.R99R	ANTXR1_ENST00000409349.3_Splice_Site_p.R99R|ANTXR1_ENST00000409829.3_Splice_Site_p.R99R	NM_032208.2	NP_115584.1	Q9H6X2	ANTR1_HUMAN	anthrax toxin receptor 1	99	VWFA.				actin cytoskeleton reorganization|substrate adhesion-dependent cell spreading	filopodium membrane|integral to membrane|lamellipodium membrane	actin filament binding|collagen binding|metal ion binding|protein binding|transmembrane receptor activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						TGGATTTCAGAGAACAAATCC	0.378									Familial Infantile Hemangioma				3	63					0	0	1	0	0	G	69297779	A	G	69297779	5	3	266	1	0	0	0	0	0	0	1	0	705	318	11	3	311	3	ANTXR1	2	69297779	Splice_Site	SNP	A	TCGA-HT-7688-01A-11D-2253-08	41835445	69297779	173901594	18	27670											
MXD1	4084	broad.mit.edu	37	2	70164431	70164431	+	Missense_Mutation	SNP	A	A	T			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr2:70164431A>T	ENST00000264444.2	+	5	643	c.383A>T	c.(382-384)cAc>cTc	p.H128L	MXD1_ENST00000540449.1_Missense_Mutation_p.H118L	NM_001202513.1|NM_001202514.1|NM_002357.3	NP_001189442.1|NP_001189443.1|NP_002348.1	Q05195	MAD1_HUMAN	MAX dimerization protein 1	128					cell proliferation|multicellular organismal development	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(1)|endometrium(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	7						GAGCAGCGACACCTGAAGAGG	0.577													5	113					0	0	1	0	0	T	70164431	A	T	70164431	3	4	266	1	0	0	0	0	1	0	0	0	10047	159	6	5	401	5	MXD1	2	70164431	Missense_Mutation	SNP	A	TCGA-HT-7688-01A-11D-2253-08	866652	70164431	173034942	19	27671											
EIF2AK3	9451	broad.mit.edu	37	2	88913303	88913303	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr2:88913303T>C	ENST00000303236.3	-	2	678	c.377A>G	c.(376-378)aAg>aGg	p.K126R	EIF2AK3_ENST00000419748.1_5'UTR	NM_004836.5	NP_004827.4	Q9NZJ5	E2AK3_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 3	126					activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|ER overload response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding			ovary(3)	3						ATCCCACTGCTTTTTACCATG	0.353													10	95					0	0	1	0	0	C	88913303	T	C	88913303	3	2	266	1	0	0	0	0	1	0	0	0	5024	1609	56	3	3037	3	EIF2AK3	2	88913303	Missense_Mutation	SNP	T	TCGA-HT-7688-01A-11D-2253-08	18748872	88913303	154286070	20	27672											
PTPN4	5775	broad.mit.edu	37	2	120709680	120709680	+	Silent	SNP	A	A	G			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr2:120709680A>G	ENST00000263708.2	+	19	2559	c.1788A>G	c.(1786-1788)gaA>gaG	p.E596E	PTPN4_ENST00000544261.1_Silent_p.E229E	NM_002830.3	NP_002821.1	P29074	PTN4_HUMAN	protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte)	596						cytoplasm|cytoskeleton|internal side of plasma membrane	cytoskeletal protein binding|non-membrane spanning protein tyrosine phosphatase activity			endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|urinary_tract(1)	30					Alendronate(DB00630)	ATTCTGGGGAACTCATGCTTC	0.403													6	99					0	0	1	0	0	G	120709680	A	G	120709680	2	3	266	1	0	0	0	0	0	0	0	1	12842	40	2	3		3	PTPN4	2	120709680	Silent	SNP	A	TCGA-HT-7688-01A-11D-2253-08	31796377	120709680	122489693	21	27673											
TTN	7273	broad.mit.edu	37	2	179431332	179431332	+	Silent	SNP	A	A	G			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr2:179431332A>G	ENST00000589042.1	-	326	79751	c.79527T>C	c.(79525-79527)ggT>ggC	p.G26509G	TTN_ENST00000342175.6_Silent_p.G17636G|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Silent_p.G24868G|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Silent_p.G17569G|TTN_ENST00000460472.2_Silent_p.G17444G|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Silent_p.G23941G|TTN-AS1_ENST00000592689.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	24868							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGATGGGTTTACCCCAGGCAA	0.433													4	191					0	0	1	0	0	G	179431332	A	G	179431332	2	3	266	1	0	0	0	0	0	0	0	1	16797	378	14	3		3	TTN	2	179431332	Silent	SNP	A	TCGA-HT-7688-01A-11D-2253-08	58721652	179431332	63768041	22	27674											
TTN	7273	broad.mit.edu	37	2	179463964	179463964	+	Silent	SNP	G	G	A			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr2:179463964G>A	ENST00000589042.1	-	290	56780	c.56556C>T	c.(56554-56556)ggC>ggT	p.G18852G	TTN_ENST00000342175.6_Silent_p.G9979G|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000591111.1_Silent_p.G17211G|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Silent_p.G9912G|TTN_ENST00000460472.2_Silent_p.G9787G|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Silent_p.G16284G	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	17211	Ig-like 107.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CATATTCATGGCCTTCTAGCA	0.428													26	118					0	0	1	0	0	A	179463964	G	A	179463964	2	1	266	1	0	0	0	0	0	0	0	1	16797	1190	42	2		2	TTN	2	179463964	Silent	SNP	G	TCGA-HT-7688-01A-11D-2253-08	32632	179463964	63735409	23	27675											
TMEFF2	23671	broad.mit.edu	37	2	192818453	192818453	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr2:192818453C>G	ENST00000392314.1	-	9	1371	c.980G>C	c.(979-981)gGa>gCa	p.G327A	AC098617.1_ENST00000428980.2_RNA|AC098617.1_ENST00000424116.2_RNA|TMEFF2_ENST00000272771.5_Missense_Mutation_p.G327A			Q9UIK5	TEFF2_HUMAN	transmembrane protein with EGF-like and two follistatin-like domains 2	327						extracellular region|integral to membrane				breast(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(12)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(117;0.0835)			CTGAATTGTTCCAATCACAGC	0.428													3	66					0	0	1	0	0	G	192818453	C	G	192818453	3	3	266	1	0	0	0	0	1	0	0	0	16074	855	30	5	152	5	TMEFF2	2	192818453	Missense_Mutation	SNP	C	TCGA-HT-7688-01A-11D-2253-08	13354489	192818453	50380920	24	27676											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	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	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								23	52					0	0	1	0	0	T	209113112	C	T	209113112	3	4	266	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HT-7688-01A-11D-2253-08	16294659	209113112	34086261	25	27677											
BTD	686	broad.mit.edu	37	3	15686764	15686764	+	Silent	SNP	C	C	A			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr3:15686764C>A	ENST00000383778.4	+	4	1699	c.1341C>A	c.(1339-1341)ggC>ggA	p.G447G	BTD_ENST00000449107.1_Silent_p.G469G|BTD_ENST00000437172.1_Silent_p.G469G|BTD_ENST00000303498.5_Silent_p.G467G	NM_001281725.1	NP_001268654.1	P43251	BTD_HUMAN	biotinidase	467					central nervous system development|epidermis development|nitrogen compound metabolic process	extracellular space	biotin carboxylase activity|biotinidase activity			breast(2)|endometrium(3)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	18						GGGGTCTTGGCTTCGACACCT	0.507													4	121					0.00909568	0.00921082	1	1	0	A	15686764	C	A	15686764	2	1	266	1	0	0	0	0	0	0	0	1	1553	784	28	4		4	BTD	3	15686764	Silent	SNP	C	TCGA-HT-7688-01A-11D-2253-08		15686764	182335666	26	27678											
NEK4	6787	broad.mit.edu	37	3	52802575	52802575	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr3:52802575G>A	ENST00000233027.5	-	2	341	c.139C>T	c.(139-141)Cgg>Tgg	p.R47W	NEK4_ENST00000383721.4_Missense_Mutation_p.R47W|NEK4_ENST00000535191.1_Intron	NM_001193533.1|NM_003157.4	NP_001180462.1|NP_003148.2	P51957	NEK4_HUMAN	NIMA-related kinase 4	47	Protein kinase.				cell division|mitosis	nucleus	ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(10)	26				BRCA - Breast invasive adenocarcinoma(193;7.44e-05)|Kidney(197;0.000711)|KIRC - Kidney renal clear cell carcinoma(197;0.00086)|OV - Ovarian serous cystadenocarcinoma(275;0.0513)		GCAGCTCGCCGCTCTCGGCTA	0.453													5	106					0	0	1	0	0	A	52802575	G	A	52802575	3	1	266	1	0	0	0	0	1	0	0	0	10373	1086	38	1	2446	1	NEK4	3	52802575	Missense_Mutation	SNP	G	TCGA-HT-7688-01A-11D-2253-08	37115811	52802575	145219855	27	27679											
PLXNA1	5361	broad.mit.edu	37	3	126748802	126748802	+	Missense_Mutation	SNP	G	G	C			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr3:126748802G>C	ENST00000251772.4	+	27	4956	c.4887G>C	c.(4885-4887)aaG>aaC	p.K1629N	PLXNA1_ENST00000393409.2_Missense_Mutation_p.K1652N			Q9UIW2	PLXA1_HUMAN	plexin A1	1652					axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		GCGGCACCAAGCTGTGGCACC	0.657													3	110					0	0	1	0	0	C	126748802	G	C	126748802	3	2	266	1	0	0	0	0	1	0	0	0	12167	962	34	4	5062	4	PLXNA1	3	126748802	Missense_Mutation	SNP	G	TCGA-HT-7688-01A-11D-2253-08	73946227	126748802	71273628	28	27680											
TMCC1	23023	broad.mit.edu	37	3	129547187	129547187	+	Missense_Mutation	SNP	T	T	G			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr3:129547187T>G	ENST00000393238.3	-	3	375	c.35A>C	c.(34-36)gAc>gCc	p.D12A	TMCC1_ENST00000426664.2_Intron	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN	transmembrane and coiled-coil domain family 1	12						integral to membrane			PLXND1/TMCC1(4)	breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						AGGATCAGGGTCCTCAAATAA	0.393													5	130					0	0	1	0	0	G	129547187	T	G	129547187	3	3	266	1	0	0	0	0	1	0	0	0	16052	1667	58	5	1942	5	TMCC1	3	129547187	Missense_Mutation	SNP	T	TCGA-HT-7688-01A-11D-2253-08	2798385	129547187	68475243	29	27681											
PHC3	80012	broad.mit.edu	37	3	169815126	169815126	+	Silent	SNP	T	T	C			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr3:169815126T>C	ENST00000495893.2	-	15	2911	c.2880A>G	c.(2878-2880)ggA>ggG	p.G960G	PHC3_ENST00000494943.1_Silent_p.G948G	NM_024947.3	NP_079223.3	Q8NDX5	PHC3_HUMAN	polyhomeotic homolog 3 (Drosophila)		SAM.				multicellular organismal development	PcG protein complex	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|upper_aerodigestive_tract(2)	26	all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)			GAAGGGCCTGTCCATCAATCT	0.448													3	104					0	0	1	0	0	C	169815126	T	C	169815126	2	2	266	1	0	0	0	0	0	0	0	1	11866	1654	58	3		3	PHC3	3	169815126	Silent	SNP	T	TCGA-HT-7688-01A-11D-2253-08	40267939	169815126	28207304	30	27682											
TMEM175	84286	broad.mit.edu	37	4	944293	944293	+	Missense_Mutation	SNP	G	G	C			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr4:944293G>C	ENST00000264771.4	+	4	462	c.277G>C	c.(277-279)Gca>Cca	p.A93P	TMEM175_ENST00000508204.1_Missense_Mutation_p.A11P|TMEM175_ENST00000504180.1_3'UTR|TMEM175_ENST00000515740.1_5'UTR	NM_032326.2	NP_115702.1	Q9BSA9	TM175_HUMAN	transmembrane protein 175	93						integral to membrane				NS(1)|endometrium(1)|large_intestine(2)|lung(6)|pancreas(1)|upper_aerodigestive_tract(3)	14			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			AGTGGCCTGGGCAGCACACAC	0.597													10	92					0	0	1	0	0	C	944293	G	C	944293	3	2	266	1	0	0	0	0	1	0	0	0	16151	1203	42	5	287	5	TMEM175	4	944293	Missense_Mutation	SNP	G	TCGA-HT-7688-01A-11D-2253-08		944293	190209983	31	27683											
GBA3	57733	broad.mit.edu	37	4	22729254	22729254	+	RNA	SNP	T	T	C			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr4:22729254T>C	ENST00000508166.1	+	0	160				GBA3_ENST00000503442.1_RNA|GBA3_ENST00000511446.2_RNA	NM_020973.4	NP_066024.1	Q9H227	GBA3_HUMAN	glucosidase, beta, acid 3 (gene/pseudogene)						glycoside catabolic process|glycosylceramide catabolic process	cytosol	beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity			breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						AAAAGGAGTCTTTGGACAGTG	0.413													52	121					0	0	1	0	0	C	22729254	T	C	22729254	1	2	266	0	1	0	0	0	0	0	0	0	6308	1624	56	3		3	GBA3	4	22729254	RNA	SNP	T	TCGA-HT-7688-01A-11D-2253-08	21784961	22729254	168425022	32	27684											
CWH43	80157	broad.mit.edu	37	4	49000535	49000535	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr4:49000535C>G	ENST00000226432.4	+	6	955	c.772C>G	c.(772-774)Cgt>Ggt	p.R258G	CWH43_ENST00000513409.1_Missense_Mutation_p.R231G	NM_025087.2	NP_079363.2	Q9H720	PG2IP_HUMAN	cell wall biogenesis 43 C-terminal homolog (S. cerevisiae)	258					GPI anchor biosynthetic process	integral to membrane				cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						TTTGTGGTTTCGTGGTACTGG	0.443													11	126					0	0	1	0	0	G	49000535	C	G	49000535	3	3	266	1	0	0	0	0	1	0	0	0	4096	884	31	5	794	5	CWH43	4	49000535	Missense_Mutation	SNP	C	TCGA-HT-7688-01A-11D-2253-08	26271281	49000535	142153741	33	27685											
KDR	3791	broad.mit.edu	37	4	55981079	55981079	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr4:55981079T>C	ENST00000263923.4	-	5	915	c.620A>G	c.(619-621)gAa>gGa	p.E207G		NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	207	Ig-like C2-type 2.				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	CTGGTAACTTTCATCATTAAT	0.373			Mis		"NSCLC, angiosarcoma"					TSP Lung(20;0.16)			3	48					0	0	1	0	0	C	55981079	T	C	55981079	3	2	266	1	0	0	0	0	1	0	0	0	8182	1783	62	3	3554	3	KDR	4	55981079	Missense_Mutation	SNP	T	TCGA-HT-7688-01A-11D-2253-08	6980544	55981079	135173197	34	27686											
OTUD4	54726	broad.mit.edu	37	4	146058891	146058891	+	Silent	SNP	A	A	C			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr4:146058891A>C	ENST00000454497.2	-	21	2978	c.2841T>G	c.(2839-2841)gtT>gtG	p.V947V	OTUD4_ENST00000455611.2_Intron|OTUD4_ENST00000447906.2_Silent_p.V1012V	NM_001102653.1	NP_001096123.1	Q01804	OTUD4_HUMAN	OTU domain containing 4	1011							protein binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					CTCTGCTATCAACAGAGTTGG	0.388													3	122					0	0	1	0	0	C	146058891	A	C	146058891	2	2	266	1	0	0	0	0	0	0	0	1	11361	117	5	5		5	OTUD4	4	146058891	Silent	SNP	A	TCGA-HT-7688-01A-11D-2253-08	90077812	146058891	45095385	35	27687											
DNAH5	1767	broad.mit.edu	37	5	13792273	13792273	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr5:13792273T>C	ENST00000265104.4	-	50	8382	c.8278A>G	c.(8278-8280)Aga>Gga	p.R2760G		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2760	AAA 3 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					ACAGAATCTCTCACTTCTTCT	0.423									Kartagener syndrome				3	55					0	0	1	0	0	C	13792273	T	C	13792273	3	2	266	1	0	0	0	0	1	0	0	0	4632	1559	54	3	5716	3	DNAH5	5	13792273	Missense_Mutation	SNP	T	TCGA-HT-7688-01A-11D-2253-08		13792273	167122987	36	27688											
PDZD2	23037	broad.mit.edu	37	5	32090257	32090257	+	Missense_Mutation	SNP	C	C	T	rs147353592		TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr5:32090257C>T	ENST00000438447.1	+	20	7091	c.6703C>T	c.(6703-6705)Cgg>Tgg	p.R2235W	PDZD2_ENST00000282493.3_Missense_Mutation_p.R2235W			O15018	PDZD2_HUMAN	PDZ domain containing 2	2235					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus		p.R2235W(1)		NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						CCATTTTGGACGGGAGGGTCA	0.632													40	360					0	0	1	0	0	T	32090257	C	T	32090257	3	4	266	1	0	0	0	0	1	0	0	0	11748	527	19	1	6777	1	PDZD2	5	32090257	Missense_Mutation	SNP	C	TCGA-HT-7688-01A-11D-2253-08	18297984	32090257	148825003	37	27689											
BDP1	55814	broad.mit.edu	37	5	70806830	70806830	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr5:70806830A>G	ENST00000358731.4	+	17	4174	c.3911A>G	c.(3910-3912)aAg>aGg	p.K1304R	BDP1_ENST00000380675.2_5'UTR	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	1304	9 X 55 AA repeats of G-R-R-X-I-S-P-X-E-N- G-X-E-E-V-K-P-X-X-E-M-E-T-D-L-K-X-T-G-R- E-X-X-X-R-E-K-T-X-E-X-X-D-A-X-E-E-I-D-X- D-L-E-E-T.				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		ACTGAGGAAAAGGTGGCAGAA	0.393													3	57					0	0	1	0	0	G	70806830	A	G	70806830	3	3	266	1	0	0	0	0	1	0	0	0	1393	72	3	3	3977	3	BDP1	5	70806830	Missense_Mutation	SNP	A	TCGA-HT-7688-01A-11D-2253-08	38716573	70806830	110108430	38	27690											
MAP1B	4131	broad.mit.edu	37	5	71493611	71493611	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr5:71493611A>G	ENST00000296755.7	+	5	4727	c.4429A>G	c.(4429-4431)Aaa>Gaa	p.K1477E		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1477						microtubule|microtubule associated complex	structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		CCAAGAAAAGAAAACTGATGA	0.403													16	32					0	0	1	0	0	G	71493611	A	G	71493611	3	3	266	1	0	0	0	0	1	0	0	0	9278	247	9	3	4447	3	MAP1B	5	71493611	Missense_Mutation	SNP	A	TCGA-HT-7688-01A-11D-2253-08	686781	71493611	109421649	39	27691											
FBN2	2201	broad.mit.edu	37	5	127782200	127782203	+	Frame_Shift_Del	DEL	TGTT	TGTT	-			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr5:127782200_127782203delTGTT	ENST00000508053.1	-	13	1897_1900	c.923_926delAACA	c.(922-927)aaacagfs	p.KQ308fs	FBN2_ENST00000508989.1_Frame_Shift_Del_p.KQ275fs|FBN2_ENST00000262464.4_Frame_Shift_Del_p.KQ308fs			P35556	FBN2_HUMAN	fibrillin 2	308	EGF-like 4; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		AGTTTCACTCTGTTTGTGACCAGC	0.426													16	75	---	---	---	---						-	127782203	TGTT	-	127782200	7	5	266	1	0	1	0	1	0	0	0	0	5736	1580	55	0	8048	0	FBN2	5	127782200	Frame_Shift_Del	DEL	TGTT	TCGA-HT-7688-01A-11D-2253-08	56288589	127782200	53133060	40	27692											
CLK4	57396	broad.mit.edu	37	5	178045583	178045583	+	Missense_Mutation	SNP	G	G	C			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr5:178045583G>C	ENST00000316308.4	-	3	526	c.358C>G	c.(358-360)Cac>Gac	p.H120D	CLK4_ENST00000522749.1_5'UTR	NM_020666.2	NP_065717.1	Q9HAZ1	CLK4_HUMAN	CDC-like kinase 4	120						nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(2)	21	all_cancers(89;0.000969)|Renal(175;0.000159)|all_epithelial(37;0.000451)|Lung NSC(126;0.00545)|all_lung(126;0.00918)	all_cancers(40;0.0272)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.235)		CTTGAACAGTGTCTATTGCGC	0.403													4	195					0	0	1	0	0	C	178045583	G	C	178045583	3	2	266	1	0	0	0	0	1	0	0	0	3562	1377	48	5	1131	5	CLK4	5	178045583	Missense_Mutation	SNP	G	TCGA-HT-7688-01A-11D-2253-08	50263383	178045583	2869677	41	27693											
FOXQ1	94234	broad.mit.edu	37	6	1313391	1313391	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr6:1313391G>A	ENST00000296839.2	+	1	717	c.452G>A	c.(451-453)gGc>gAc	p.G151D		NM_033260.3	NP_150285.3	Q9C009	FOXQ1_HUMAN	forkhead box Q1	151					DNA fragmentation involved in apoptotic nuclear change|embryo development|hair follicle morphogenesis|pattern specification process|positive regulation of caspase activity|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	caspase regulator activity|DNA bending activity|double-stranded DNA binding|estrogen receptor binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|ubiquitin conjugating enzyme binding			lung(1)|urinary_tract(1)	2	Ovarian(93;0.0733)	Breast(5;0.052)|all_lung(73;0.0713)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.0954)|BRCA - Breast invasive adenocarcinoma(62;0.18)		TACCTCATGGGCAAGTTCCCC	0.652													4	65					0	0	1	0	0	A	1313391	G	A	1313391	3	1	266	1	0	0	0	0	1	0	0	0	6064	1203	42	2	454	2	FOXQ1	6	1313391	Missense_Mutation	SNP	G	TCGA-HT-7688-01A-11D-2253-08		1313391	169801676	42	27694											
CAP2	10486	broad.mit.edu	37	6	17421817	17421817	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr6:17421817C>G	ENST00000229922.2	+	2	563	c.31C>G	c.(31-33)Ctg>Gtg	p.L11V	CAP2_ENST00000489374.1_Missense_Mutation_p.L11V|CAP2_ENST00000465994.1_Missense_Mutation_p.L11V|CAP2_ENST00000378990.2_Missense_Mutation_p.L11V|CAP2_ENST00000493172.1_Missense_Mutation_p.L11V	NM_006366.2	NP_006357.1	P40123	CAP2_HUMAN	CAP, adenylate cyclase-associated protein, 2 (yeast)	11					activation of adenylate cyclase activity|axon guidance|cytoskeleton organization|establishment or maintenance of cell polarity|signal transduction	plasma membrane	actin binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(4)|urinary_tract(1)	27	Breast(50;0.0333)|Ovarian(93;0.0386)	all_hematologic(90;0.0466)	all cancers(50;0.194)|Epithelial(50;0.227)			GGTGGAAAGACTGGAACGAGC	0.567													4	123					0	0	1	0	0	G	17421817	C	G	17421817	3	3	266	1	0	0	0	0	1	0	0	0	2638	564	20	4	33	4	CAP2	6	17421817	Missense_Mutation	SNP	C	TCGA-HT-7688-01A-11D-2253-08	16108426	17421817	153693250	43	27695											
NKAPL	222698	broad.mit.edu	37	6	28227547	28227547	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr6:28227547C>T	ENST00000343684.3	+	1	450	c.398C>T	c.(397-399)gCg>gTg	p.A133V		NM_001007531.1	NP_001007532.1	Q5M9Q1	NKAPL_HUMAN	NFKB activating protein-like	133										breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						GAATTGGGAGCGCCTGAAGTG	0.537													4	148					0	0	1	0	0	T	28227547	C	T	28227547	3	4	266	1	0	0	0	0	1	0	0	0	10487	768	27	1	400	1	NKAPL	6	28227547	Missense_Mutation	SNP	C	TCGA-HT-7688-01A-11D-2253-08	10805730	28227547	142887520	44	27696											
TRIM15	89870	broad.mit.edu	37	6	30138337	30138337	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr6:30138337T>C	ENST00000376694.4	+	5	1260	c.791T>C	c.(790-792)aTc>aCc	p.I264T	TRIM15_ENST00000376688.1_Intron	NM_033229.2	NP_150232.2	Q9C019	TRI15_HUMAN	tripartite motif containing 15	264					mesodermal cell fate determination	intracellular	zinc ion binding			large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	14						GTCAAGAAGATCCGTGATTTC	0.483													3	89					0	0	1	0	0	C	30138337	T	C	30138337	3	2	266	1	0	0	0	0	1	0	0	0	16551	1435	50	3	809	3	TRIM15	6	30138337	Missense_Mutation	SNP	T	TCGA-HT-7688-01A-11D-2253-08	1910790	30138337	140976730	45	27697											
ZNF76	7629	broad.mit.edu	37	6	35255527	35255527	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr6:35255527G>A	ENST00000373953.3	+	5	603	c.337G>A	c.(337-339)Gta>Ata	p.V113I	ZNF76_ENST00000440666.2_Missense_Mutation_p.V87I|ZNF76_ENST00000339411.5_Missense_Mutation_p.V113I	NM_003427.3	NP_003418.2	P36508	ZNF76_HUMAN	zinc finger protein 76	113					regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)	16						CATCCTGGCCGTACAGACAGA	0.607													4	56					0	0	1	0	0	A	35255527	G	A	35255527	3	1	266	1	0	0	0	0	1	0	0	0	18185	1145	40	1	351	1	ZNF76	6	35255527	Missense_Mutation	SNP	G	TCGA-HT-7688-01A-11D-2253-08	5117190	35255527	135859540	46	27698											
TREML2	79865	broad.mit.edu	37	6	41160191	41160191	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr6:41160191G>A	ENST00000483722.1	-	5	1125	c.940C>T	c.(940-942)Ccc>Tcc	p.P314S		NM_024807.2	NP_079083.2	Q5T2D2	TRML2_HUMAN	triggering receptor expressed on myeloid cells-like 2	314					T cell activation	cell surface|integral to membrane|plasma membrane	protein binding|receptor activity			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)	18	Ovarian(28;0.0418)|Colorectal(47;0.196)					TCCACATAGGGCTCTGGTCTT	0.587													6	38					0	0	1	0	0	A	41160191	G	A	41160191	3	1	266	1	0	0	0	0	1	0	0	0	16534	1203	42	2	29	2	TREML2	6	41160191	Missense_Mutation	SNP	G	TCGA-HT-7688-01A-11D-2253-08	5904664	41160191	129954876	47	27699											
DDX43	55510	broad.mit.edu	37	6	74124393	74124393	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr6:74124393C>T	ENST00000370336.4	+	14	1887	c.1729C>T	c.(1729-1731)Cgc>Tgc	p.R577C	MB21D1_ENST00000370318.1_Intron	NM_018665.2	NP_061135.2	Q9NXZ2	DDX43_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 43	577	Helicase C-terminal.					intracellular	ATP binding|ATP-dependent RNA helicase activity|RNA binding			NS(1)|breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						CCGAATAGGGCGCACGGGAAG	0.428													4	105					0	0	1	0	0	T	74124393	C	T	74124393	3	4	266	1	0	0	0	0	1	0	0	0	4386	768	27	1	1783	1	DDX43	6	74124393	Missense_Mutation	SNP	C	TCGA-HT-7688-01A-11D-2253-08	32964202	74124393	96990674	48	27700											
PRDM1	639	broad.mit.edu	37	6	106553291	106553291	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr6:106553291G>A	ENST00000369096.4	+	5	1490	c.1256G>A	c.(1255-1257)gGc>gAc	p.G419D	PRDM1_ENST00000369089.3_Missense_Mutation_p.G285D|PRDM1_ENST00000369091.2_Missense_Mutation_p.G383D	NM_001198.3	NP_001189.2	O75626	PRDM1_HUMAN	PR domain containing 1, with ZNF domain	419					negative regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(59)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(5)|urinary_tract(2)	94	Breast(9;0.022)	all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365)		all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05)		CCCCCCTACGGCATGAATTGT	0.587			"D, N, Mis, F, S"		DLBCL								8	56					0	0	1	0	0	A	106553291	G	A	106553291	3	1	266	1	0	0	0	0	1	0	0	0	12502	1203	42	2	1287	2	PRDM1	6	106553291	Missense_Mutation	SNP	G	TCGA-HT-7688-01A-11D-2253-08	32428898	106553291	64561776	49	27701											
TRDN	10345	broad.mit.edu	37	6	123759208	123759209	+	Splice_Site	INS	-	-	T			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr6:123759208_123759209insT	ENST00000334268.4	-	12	1367_1368	c.1050_1051insA	c.(1048-1053)aaagag>aaaAgag	p.E351fs	TRDN_ENST00000398178.3_Splice_Site_p.E351fs|RP11-532N4.2_ENST00000587106.2_RNA			Q13061	TRDN_HUMAN	triadin	351					muscle contraction	integral to membrane|plasma membrane|sarcoplasmic reticulum membrane	receptor binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	41				GBM - Glioblastoma multiforme(226;0.184)		AGTGCAATACCTTTTTTTTCCA	0.337													4	7	---	---	---	---						T	123759209	-	T	123759208	8	5	266	1	0	1	1	0	0	0	1	0	16529	695	24	0	1258	0	TRDN	6	123759208	Splice_Site	INS	-	TCGA-HT-7688-01A-11D-2253-08	17205917	123759208	47355859	50	27702											
EPB41L2	2037	broad.mit.edu	37	6	131229973	131229976	+	Frame_Shift_Del	DEL	TCTT	TCTT	-			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr6:131229973_131229976delTCTT	ENST00000337057.3	-	5	1019_1022	c.838_841delAAGA	c.(838-843)aagagafs	p.KR280fs	EPB41L2_ENST00000530148.1_5'UTR|EPB41L2_ENST00000525271.1_Frame_Shift_Del_p.KR280fs|EPB41L2_ENST00000368128.2_Frame_Shift_Del_p.KR280fs|EPB41L2_ENST00000530481.1_Frame_Shift_Del_p.KR280fs|EPB41L2_ENST00000527659.1_Frame_Shift_Del_p.KR280fs|EPB41L2_ENST00000528282.1_Frame_Shift_Del_p.KR280fs|EPB41L2_ENST00000445890.2_Frame_Shift_Del_p.KR280fs|EPB41L2_ENST00000527411.1_Frame_Shift_Del_p.KR280fs|EPB41L2_ENST00000525193.1_Frame_Shift_Del_p.KR280fs|EPB41L2_ENST00000529208.1_Frame_Shift_Del_p.KR280fs|EPB41L2_ENST00000392427.3_Frame_Shift_Del_p.KR280fs	NM_001431.3	NP_001422.1	O43491	E41L2_HUMAN	erythrocyte membrane protein band 4.1-like 2	280	FERM.				cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		CTCAGTTGTCTCTTTATTTCTTTA	0.284													16	39	---	---	---	---						-	131229976	TCTT	-	131229973	7	5	266	1	0	1	0	1	0	0	0	0	5181	1559	54	0	2236	0	EPB41L2	6	131229973	Frame_Shift_Del	DEL	TCTT	TCGA-HT-7688-01A-11D-2253-08	7470765	131229973	39885094	51	27703											
ARID1B	57492	broad.mit.edu	37	6	157522373	157522373	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr6:157522373C>G	ENST00000346085.5	+	18	4646	c.4645C>G	c.(4645-4647)Cac>Gac	p.H1549D	ARID1B_ENST00000275248.4_Missense_Mutation_p.H1531D|ARID1B_ENST00000367148.1_Missense_Mutation_p.H1589D|ARID1B_ENST00000350026.5_Missense_Mutation_p.H1536D	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1536	Pro-rich.				chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		ACTGCCAAATCACATCTCCAG	0.597													5	106					0	0	1	0	0	G	157522373	C	G	157522373	3	3	266	1	0	0	0	0	1	0	0	0	911	826	29	5	4715	5	ARID1B	6	157522373	Missense_Mutation	SNP	C	TCGA-HT-7688-01A-11D-2253-08	26292400	157522373	13592694	52	27704											
IL6	3569	broad.mit.edu	37	7	22769188	22769188	+	Missense_Mutation	SNP	A	A	T			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr7:22769188A>T	ENST00000404625.1	+	5	839	c.380A>T	c.(379-381)gAg>gTg	p.E127V	IL6_ENST00000407492.1_Missense_Mutation_p.E51V|IL6_ENST00000420258.2_Missense_Mutation_p.E181V|IL6_ENST00000258743.5_Missense_Mutation_p.E127V|IL6_ENST00000406575.1_Missense_Mutation_p.E127V|IL6_ENST00000401651.1_Missense_Mutation_p.E51V|IL6_ENST00000401630.3_Missense_Mutation_p.E104V			P05231	IL6_HUMAN	interleukin 6 (interferon, beta 2)	127					acute-phase response|cellular response to hydrogen peroxide|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|defense response to virus|endocrine pancreas development|glucagon secretion|hepatic immune response|interleukin-6-mediated signaling pathway|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of chemokine biosynthetic process|negative regulation of collagen biosynthetic process|negative regulation of fat cell differentiation|negative regulation of lipid storage|neuron projection development|neutrophil apoptosis|platelet activation|positive regulation of acute inflammatory response|positive regulation of anti-apoptosis|positive regulation of B cell activation|positive regulation of chemokine production|positive regulation of immunoglobulin secretion|positive regulation of interleukin-6 production|positive regulation of osteoblast differentiation|positive regulation of peptidyl-serine phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of smooth muscle cell proliferation|positive regulation of T cell proliferation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of translation|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of vascular endothelial growth factor production|response to glucocorticoid stimulus|response to peptidoglycan	extracellular space|interleukin-6 receptor complex	cytokine activity|growth factor activity|interleukin-6 receptor binding			breast(1)|endometrium(2)|large_intestine(4)|lung(1)	8					Arsenic trioxide(DB01169)|Bicalutamide(DB01128)|Ginseng(DB01404)|Simvastatin(DB00641)	GTATACCTAGAGTACCTCCAG	0.458													11	65					0	0	1	0	0	T	22769188	A	T	22769188	3	4	266	1	0	0	0	0	1	0	0	0	7745	304	11	5	394	5	IL6	7	22769188	Missense_Mutation	SNP	A	TCGA-HT-7688-01A-11D-2253-08		22769188	136369475	53	27705											
ADCYAP1R1	117	broad.mit.edu	37	7	31124392	31124392	+	Missense_Mutation	SNP	G	G	C			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr7:31124392G>C	ENST00000304166.4	+	8	768	c.479G>C	c.(478-480)gGc>gCc	p.G160A	ADCYAP1R1_ENST00000396211.2_Missense_Mutation_p.G160A|ADCYAP1R1_ENST00000409363.1_Missense_Mutation_p.G139A|ADCYAP1R1_ENST00000409489.1_Missense_Mutation_p.G160A	NM_001118.4|NM_001199635.1|NM_001199636.1	NP_001109.2|NP_001186564.1|NP_001186565.1	P41586	PACR_HUMAN	adenylate cyclase activating polypeptide 1 (pituitary) receptor type I	160					activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|spermatogenesis	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity			endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1)	35						TACACGGTTGGCTACAGCACA	0.562													5	189					0	0	1	0	0	C	31124392	G	C	31124392	3	2	266	1	0	0	0	0	1	0	0	0	302	1203	42	5	505	5	ADCYAP1R1	7	31124392	Missense_Mutation	SNP	G	TCGA-HT-7688-01A-11D-2253-08	8355204	31124392	128014271	54	27706											
PURB	5814	broad.mit.edu	37	7	44924053	44924053	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr7:44924053C>T	ENST00000395699.2	-	1	907	c.895G>A	c.(895-897)Ggc>Agc	p.G299S		NM_033224.3	NP_150093.1	Q96QR8	PURB_HUMAN	purine-rich element binding protein B	299					regulation of myeloid cell differentiation	DNA replication factor A complex	mRNA binding|single-stranded DNA binding|transcription factor binding			large_intestine(2)|lung(3)|prostate(1)|skin(1)	7						TCGCCGCCGCCGCTGCCCCCA	0.587													5	212					0	0	1	0	0	T	44924053	C	T	44924053	3	4	266	1	0	0	0	0	1	0	0	0	12880	652	23	1	47	1	PURB	7	44924053	Missense_Mutation	SNP	C	TCGA-HT-7688-01A-11D-2253-08	13799661	44924053	114214610	55	27707											
PKD1L1	168507	broad.mit.edu	37	7	47920383	47920383	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr7:47920383T>C	ENST00000289672.2	-	21	3513	c.3463A>G	c.(3463-3465)Aca>Gca	p.T1155A		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	1155	REJ.				cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						GGCTTGATTGTCACTGTCTGT	0.468													3	83					0	0	1	0	0	C	47920383	T	C	47920383	3	2	266	1	0	0	0	0	1	0	0	0	12012	1667	58	3	5234	3	PKD1L1	7	47920383	Missense_Mutation	SNP	T	TCGA-HT-7688-01A-11D-2253-08	2996330	47920383	111218280	56	27708											
GRB10	2887	broad.mit.edu	37	7	50686969	50686969	+	Silent	SNP	T	T	C			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr7:50686969T>C	ENST00000403097.1	-	8	1437	c.657A>G	c.(655-657)gaA>gaG	p.E219E	GRB10_ENST00000407526.1_Silent_p.E167E|GRB10_ENST00000335866.3_Silent_p.E167E|GRB10_ENST00000398810.2_Silent_p.E167E|GRB10_ENST00000439599.1_Silent_p.E219E|GRB10_ENST00000402578.1_Silent_p.E167E|GRB10_ENST00000406641.1_Silent_p.E167E|GRB10_ENST00000401949.1_Silent_p.E225E|GRB10_ENST00000402497.1_Silent_p.E167E|GRB10_ENST00000357271.5_Silent_p.E225E|GRB10_ENST00000398812.2_Silent_p.E225E			Q13322	GRB10_HUMAN	growth factor receptor-bound protein 10	225	Ras-associating.				insulin receptor signaling pathway|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway	cytosol|plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity			NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	41	Glioma(55;0.08)|all_neural(89;0.245)					GCTCATGGTCTTCCAAGCACC	0.443									Russell-Silver syndrome				5	101					0	0	1	0	0	C	50686969	T	C	50686969	2	2	266	1	0	0	0	0	0	0	0	1	6797	1606	56	3		3	GRB10	7	50686969	Silent	SNP	T	TCGA-HT-7688-01A-11D-2253-08	2766586	50686969	108451694	57	27709											
TRIM24	8805	broad.mit.edu	37	7	138268733	138268733	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr7:138268733G>A	ENST00000343526.4	+	18	3147	c.2932G>A	c.(2932-2934)Gaa>Aaa	p.E978K	TRIM24_ENST00000415680.2_Missense_Mutation_p.E944K			O15164	TIF1A_HUMAN	tripartite motif containing 24	978	Bromo.				cellular response to estrogen stimulus|protein catabolic process|regulation of apoptosis|regulation of protein stability|transcription from RNA polymerase II promoter	cytoplasm	chromatin binding|estrogen response element binding|histone acetyl-lysine binding|p53 binding|transcription coactivator activity|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(5)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	40						AAACTGTGCTGAATTCAATGA	0.388													3	60					0	0	1	0	0	A	138268733	G	A	138268733	3	1	266	1	0	0	0	0	1	0	0	0	16559	1291	45	2	3002	2	TRIM24	7	138268733	Missense_Mutation	SNP	G	TCGA-HT-7688-01A-11D-2253-08	87581764	138268733	20869930	58	27710											
ARHGEF35	445328	broad.mit.edu	37	7	143884337	143884337	+	Silent	SNP	C	C	T			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr7:143884337C>T	ENST00000378115.2	-	2	1269	c.1140G>A	c.(1138-1140)gaG>gaA	p.E380E	ARHGEF35_ENST00000543357.1_Silent_p.E380E	NM_001003702.2	NP_001003702.2	A5YM69	ARG35_HUMAN	Rho guanine nucleotide exchange factor (GEF) 35	380	Glu-rich.									kidney(1)|large_intestine(1)|lung(3)|stomach(1)	6						CATCCCAACTCTCTGGCTCTT	0.557													10	76					0	0	1	0	0	T	143884337	C	T	143884337	2	4	266	1	0	0	0	0	0	0	0	1	902	912	32	2		2	ARHGEF35	7	143884337	Silent	SNP	C	TCGA-HT-7688-01A-11D-2253-08	5615604	143884337	15254326	59	27711											
INTS9	55756	broad.mit.edu	37	8	28625815	28625815	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr8:28625815C>G	ENST00000416984.2	-	16	2121	c.1762G>C	c.(1762-1764)Gag>Cag	p.E588Q	INTS9_ENST00000521022.1_Missense_Mutation_p.E609Q|INTS9_ENST00000397363.4_Missense_Mutation_p.E503Q|INTS9_ENST00000521777.1_Missense_Mutation_p.E585Q	NM_001145159.2	NP_001138631.1	Q9NV88	INT9_HUMAN	integrator complex subunit 9	609					snRNA processing	integrator complex	protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(2)	19		Ovarian(32;0.0439)		KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.152)		GCTGTGTCCTCCACCTTAATA	0.502													10	170					0	0	1	0	0	G	28625815	C	G	28625815	3	3	266	1	0	0	0	0	1	0	0	0	7829	864	30	5	155	5	INTS9	8	28625815	Missense_Mutation	SNP	C	TCGA-HT-7688-01A-11D-2253-08		28625815	117738207	60	27712											
PI15	51050	broad.mit.edu	37	8	75737530	75737530	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr8:75737530C>T	ENST00000260113.2	+	2	225	c.46C>T	c.(46-48)Ctc>Ttc	p.L16F	RP11-758M4.4_ENST00000523860.1_RNA|PI15_ENST00000523773.1_Missense_Mutation_p.L16F|RP11-758M4.4_ENST00000518128.1_RNA	NM_015886.3	NP_056970.1	O43692	PI15_HUMAN	peptidase inhibitor 15	16						extracellular region	peptidase inhibitor activity	p.L16I(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|skin(1)	30	Breast(64;0.137)		BRCA - Breast invasive adenocarcinoma(89;0.104)|Epithelial(68;0.118)			GTTCTCCCTTCTCTGTGAAGC	0.463													9	256					0	0	1	0	0	T	75737530	C	T	75737530	3	4	266	1	0	0	0	0	1	0	0	0	11916	913	32	2	48	2	PI15	8	75737530	Missense_Mutation	SNP	C	TCGA-HT-7688-01A-11D-2253-08	47111715	75737530	70626492	61	27713											
TG	7038	broad.mit.edu	37	8	133912511	133912511	+	Silent	SNP	G	G	A			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr8:133912511G>A	ENST00000220616.4	+	15	3400	c.3360G>A	c.(3358-3360)tcG>tcA	p.S1120S	TG_ENST00000377869.1_Silent_p.S1120S	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1120	Thyroglobulin type-1 9.				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		TGCAGGCATCGGGGGCTGGCA	0.622													5	48					0	0	1	0	0	A	133912511	G	A	133912511	2	1	266	1	0	0	0	0	0	0	0	1	15873	1103	39	1		1	TG	8	133912511	Silent	SNP	G	TCGA-HT-7688-01A-11D-2253-08	58174981	133912511	12451511	62	27714											
IFNA7	3444	broad.mit.edu	37	9	21201904	21201904	+	Silent	SNP	G	G	A			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr9:21201904G>A	ENST00000239347.3	-	1	300	c.261C>T	c.(259-261)acC>acT	p.T87T		NM_021057.2	NP_066401.2	P01567	IFNA7_HUMAN	interferon, alpha 7	87					blood coagulation|cell-cell signaling|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding			endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(6)	12				GBM - Glioblastoma multiforme(5;4.75e-197)|Lung(24;1.26e-23)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		AGAGATTGAAGGTCTGCTGGA	0.478													3	67					0	0	1	0	0	A	21201904	G	A	21201904	2	1	266	1	0	0	0	0	0	0	0	1	7586	987	35	2		2	IFNA7	9	21201904	Silent	SNP	G	TCGA-HT-7688-01A-11D-2253-08		21201904	120011527	63	27715											
RORB	6096	broad.mit.edu	37	9	77257632	77257632	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr9:77257632C>T	ENST00000376896.3	+	4	1150	c.538C>T	c.(538-540)Caa>Taa	p.Q180*	RORB_ENST00000396204.2_Nonsense_Mutation_p.Q191*	NM_006914.3	NP_008845.2	Q92753	RORB_HUMAN	RAR-related orphan receptor B		Hinge (Potential).				eye photoreceptor cell development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|visual perception	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(2)|large_intestine(4)|lung(1)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	12						ACAGATAAAGCAAGAACCTAT	0.468													10	60					0	0	1	0	0	T	77257632	C	T	77257632	4	4	266	1	0	0	0	0	0	1	0	0	13581	711	25	2	552	2	RORB	9	77257632	Nonsense_Mutation	SNP	C	TCGA-HT-7688-01A-11D-2253-08	56055728	77257632	63955799	64	27716											
PCSK5	5125	broad.mit.edu	37	9	78686647	78686647	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr9:78686647C>T	ENST00000545128.1	+	7	1265	c.727C>T	c.(727-729)Cga>Tga	p.R243*	PCSK5_ENST00000376752.4_Nonsense_Mutation_p.R243*|PCSK5_ENST00000376767.3_Nonsense_Mutation_p.R243*	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	243	Catalytic.				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						TGAAGGAGTGCGAATGCTGGA	0.512													4	129					0	0	1	0	0	T	78686647	C	T	78686647	4	4	266	1	0	0	0	0	0	1	0	0	11650	760	27	1	753	1	PCSK5	9	78686647	Nonsense_Mutation	SNP	C	TCGA-HT-7688-01A-11D-2253-08	1429015	78686647	62526784	65	27717											
PCSK5	5125	broad.mit.edu	37	9	78790066	78790066	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr9:78790066A>G	ENST00000376767.3	+	14	2433	c.1921A>G	c.(1921-1923)Aca>Gca	p.T641A	PCSK5_ENST00000376752.4_Intron|PCSK5_ENST00000545128.1_Intron			Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	0	CRM (Cys-rich motif).				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						TTCCAGTGGGACACAGGCTAA	0.478													4	68					0	0	1	0	0	G	78790066	A	G	78790066	3	3	266	1	0	0	0	0	1	0	0	0	11650	290	10	3		3	PCSK5	9	78790066	Missense_Mutation	SNP	A	TCGA-HT-7688-01A-11D-2253-08	103419	78790066	62423365	66	27718											
PCSK5	5125	broad.mit.edu	37	9	78938042	78938042	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr9:78938042C>T	ENST00000545128.1	+	31	4634	c.4096C>T	c.(4096-4098)Cgc>Tgc	p.R1366C		NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	631					anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						TGCAGACTCGCGCCACTGTGT	0.567													3	16					0	0	1	0	0	T	78938042	C	T	78938042	3	4	266	1	0	0	0	0	1	0	0	0	11650	783	27	1		1	PCSK5	9	78938042	Missense_Mutation	SNP	C	TCGA-HT-7688-01A-11D-2253-08	147976	78938042	62275389	67	27719											
PCSK5	5125	broad.mit.edu	37	9	78943022	78943022	+	Silent	SNP	C	C	T			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr9:78943022C>T	ENST00000545128.1	+	32	4894	c.4356C>T	c.(4354-4356)aaC>aaT	p.N1452N		NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	674					anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						GCATGGCCAACGAGAAGTGCT	0.592													15	343					0	0	1	0	0	T	78943022	C	T	78943022	2	4	266	1	0	0	0	0	0	0	0	1	11650	551	19	1		1	PCSK5	9	78943022	Silent	SNP	C	TCGA-HT-7688-01A-11D-2253-08	4980	78943022	62270409	68	27720											
TNC	3371	broad.mit.edu	37	9	117849482	117849482	+	Silent	SNP	G	G	A			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr9:117849482G>A	ENST00000350763.4	-	3	939	c.528C>T	c.(526-528)tgC>tgT	p.C176C	TNC_ENST00000346706.3_Silent_p.C176C|TNC_ENST00000341037.4_Silent_p.C176C|TNC_ENST00000340094.3_Silent_p.C176C|TNC_ENST00000542877.1_Silent_p.C176C|TNC_ENST00000537320.1_Silent_p.C176C|TNC_ENST00000345230.3_Silent_p.C176C|TNC_ENST00000535648.1_Silent_p.C176C|TNC_ENST00000423613.2_Silent_p.C176C	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	176	EGF-like 1; incomplete.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding	p.C176C(1)		NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						AGCCAGGTTCGCAGACACAGC	0.582													4	141					0	0	1	0	0	A	117849482	G	A	117849482	2	1	266	1	0	0	0	0	0	0	0	1	16330	1079	38	1		1	TNC	9	117849482	Silent	SNP	G	TCGA-HT-7688-01A-11D-2253-08	38906460	117849482	23363949	69	27721											
ASTN2	23245	broad.mit.edu	37	9	119413978	119413978	+	Silent	SNP	G	G	A			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr9:119413978G>A	ENST00000313400.4	-	17	3001	c.2901C>T	c.(2899-2901)gaC>gaT	p.D967D	ASTN2_ENST00000373996.3_Silent_p.D963D|ASTN2_ENST00000341734.4_Silent_p.D19D|ASTN2_ENST00000361209.2_Silent_p.D916D|ASTN2_ENST00000288520.5_Silent_p.D68D|ASTN2_ENST00000361477.3_Silent_p.D19D|ASTN2_ENST00000358637.4_Silent_p.D19D			O75129	ASTN2_HUMAN	astrotactin 2	967						integral to membrane				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						AAATGAGCTGGTCATCTGACA	0.582													5	109					0	0	1	0	0	A	119413978	G	A	119413978	2	1	266	1	0	0	0	0	0	0	0	1	1064	1252	44	2		2	ASTN2	9	119413978	Silent	SNP	G	TCGA-HT-7688-01A-11D-2253-08	1564496	119413978	21799453	70	27722											
NUP188	23511	broad.mit.edu	37	9	131760453	131760453	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr9:131760453C>G	ENST00000372577.2	+	31	3396	c.3375C>G	c.(3373-3375)gaC>gaG	p.D1125E		NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	1125					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						ACCTGACTGACTCTGTGGTGC	0.463													4	266					0	0	1	0	0	G	131760453	C	G	131760453	3	3	266	1	0	0	0	0	1	0	0	0	10806	564	20	4	3497	4	NUP188	9	131760453	Missense_Mutation	SNP	C	TCGA-HT-7688-01A-11D-2253-08	12346475	131760453	9452978	71	27723											
SOHLH1	402381	broad.mit.edu	37	9	138589373	138589373	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr9:138589373G>A	ENST00000298466.5	-	4	506	c.446C>T	c.(445-447)aCg>aTg	p.T149M	SOHLH1_ENST00000425225.1_Missense_Mutation_p.T149M	NM_001012415.2	NP_001012415	Q5JUK2	SOLH1_HUMAN	spermatogenesis and oogenesis specific basic helix-loop-helix 1	149					cell differentiation|multicellular organismal development|oogenesis|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(5)|prostate(1)	12		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.66e-07)|Epithelial(140;1.11e-06)|all cancers(34;6.45e-05)		GGACGCTCCCGTCCCAGGGTC	0.597													3	41					0	0	1	0	0	A	138589373	G	A	138589373	3	1	266	1	0	0	0	0	1	0	0	0	14977	1145	40	1	778	1	SOHLH1	9	138589373	Missense_Mutation	SNP	G	TCGA-HT-7688-01A-11D-2253-08	6828920	138589373	2624058	72	27724											
MYO3A	53904	broad.mit.edu	37	10	26463288	26463288	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr10:26463288G>T	ENST00000265944.5	+	30	4261	c.4095G>T	c.(4093-4095)caG>caT	p.Q1365H	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	1365	IQ 3.				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						GAAGGCAGCAGTTGAGGAAGG	0.438													19	97					1.96292e-10	2.01325e-10	1	1	0	T	26463288	G	T	26463288	3	4	266	1	0	0	0	0	1	0	0	0	10124	1020	36	4	4205	4	MYO3A	10	26463288	Missense_Mutation	SNP	G	TCGA-HT-7688-01A-11D-2253-08		26463288	109071459	73	27725											
ANKRD30A	91074	broad.mit.edu	37	10	37486405	37486405	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr10:37486405G>A	ENST00000374660.1	+	35	3001	c.2902G>A	c.(2902-2904)Gca>Aca	p.A968T	ANKRD30A_ENST00000361713.1_Missense_Mutation_p.A849T|ANKRD30A_ENST00000602533.1_Missense_Mutation_p.A849T			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	1010						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						AACATTGAGAGCAGGTACATT	0.328													7	69					0	0	1	0	0	A	37486405	G	A	37486405	3	1	266	1	0	0	0	0	1	0	0	0	654	971	34	2	2659	2	ANKRD30A	10	37486405	Missense_Mutation	SNP	G	TCGA-HT-7688-01A-11D-2253-08	11023117	37486405	98048342	74	27726											
NCOA4	8031	broad.mit.edu	37	10	51585027	51585029	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr10:51585027_51585029delAAG	ENST00000452682.1	+	9	1426_1428	c.1174_1176delAAG	c.(1174-1176)aagdel	p.K393del	NCOA4_ENST00000443446.1_In_Frame_Del_p.K377del|NCOA4_ENST00000374087.4_In_Frame_Del_p.K377del|NCOA4_ENST00000344348.6_In_Frame_Del_p.K377del|NCOA4_ENST00000414907.2_In_Frame_Del_p.K211del|NCOA4_ENST00000438493.1_In_Frame_Del_p.K393del|NCOA4_ENST00000430396.2_In_Frame_Del_p.K277del|NCOA4_ENST00000374082.1_In_Frame_Del_p.K377del	NM_001145260.1	NP_001138732.1	Q13772	NCOA4_HUMAN	nuclear receptor coactivator 4	377					androgen receptor signaling pathway|male gonad development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	androgen receptor binding|transcription coactivator activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|skin(1)	5						CTTGGAGGCCAAGAAACCATTGT	0.522			T	RET	papillary thyroid								13	22	---	---	---	---						-	51585029	AAG	-	51585027	7	5	266	1	0	1	0	1	0	0	0	0	10278	131	5	0	1204	0	NCOA4	10	51585027	In_Frame_Del	DEL	AAG	TCGA-HT-7688-01A-11D-2253-08	14098622	51585027	83949720	75	27727											
MBL2	4153	broad.mit.edu	37	10	54531233	54531233	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr10:54531233T>C	ENST00000373968.3	-	1	227	c.163A>G	c.(163-165)Acc>Gcc	p.T55A		NM_000242.2	NP_000233.1	P11226	MBL2_HUMAN	mannose-binding lectin (protein C) 2, soluble	55	Collagen-like.				acute-phase response|complement activation, classical pathway|complement activation, lectin pathway|defense response to Gram-positive bacterium|negative regulation of growth of symbiont in host|opsonization|response to oxidative stress	collagen|extracellular space	bacterial cell surface binding|calcium-dependent protein binding|eukaryotic cell surface binding|mannose binding|receptor binding			breast(1)|endometrium(2)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21						TCTCCCTTGGTGCCATCACGC	0.537													10	81					0	0	1	0	0	C	54531233	T	C	54531233	3	2	266	1	0	0	0	0	1	0	0	0	9400	1696	59	3	599	3	MBL2	10	54531233	Missense_Mutation	SNP	T	TCGA-HT-7688-01A-11D-2253-08	2946206	54531233	81003514	76	27728											
ARID5B	84159	broad.mit.edu	37	10	63845531	63845531	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr10:63845531delA	ENST00000279873.7	+	9	1680	c.1270delA	c.(1270-1272)aaafs	p.K424fs	ARID5B_ENST00000309334.5_Frame_Shift_Del_p.K181fs	NM_032199.2	NP_115575.1	Q14865	ARI5B_HUMAN	AT rich interactive domain 5B (MRF1-like)	424					liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent		protein binding|transcription regulatory region DNA binding			NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	Prostate(12;0.016)|all_hematologic(501;0.215)					CAAACCTCGGAAACAGGAGAA	0.358													58	92	---	---	---	---						-	63845531	A	-	63845531	7	5	266	1	0	1	0	1	0	0	0	0	919	247	9	0	1304	0	ARID5B	10	63845531	Frame_Shift_Del	DEL	A	TCGA-HT-7688-01A-11D-2253-08	9314298	63845531	71689216	77	27729											
CYP2C19	1557	broad.mit.edu	37	10	96535297	96535297	+	Splice_Site	SNP	G	G	C	rs77576043		TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr10:96535297G>C	ENST00000371321.3	+	3	563		c.e3+1		CYP2C19_ENST00000464755.1_Splice_Site	NM_000769.1	NP_000760	P33261	CP2CJ_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 19						exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)	AAAACCAAGGGTGGGTGAACA	0.498													9	150					0	0	1	0	0	C	96535297	G	C	96535297	5	2	266	1	0	0	0	0	0	0	1	0	4189	1275	44	5	492	5	CYP2C19	10	96535297	Splice_Site	SNP	G	TCGA-HT-7688-01A-11D-2253-08	32689766	96535297	38999450	78	27730											
CYP2C8	1558	broad.mit.edu	37	10	96824603	96824603	+	Missense_Mutation	SNP	T	T	A			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr10:96824603T>A	ENST00000371270.3	-	4	690	c.596A>T	c.(595-597)aAa>aTa	p.K199I	CYP2C8_ENST00000535898.1_Missense_Mutation_p.K97I|CYP2C8_ENST00000539050.1_Missense_Mutation_p.K113I	NM_000770.3|NM_001198853.1|NM_001198855.1	NP_000761.3|NP_001185782.1|NP_001185784.1	P10632	CP2C8_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 8	199					exogenous drug catabolic process|organic acid metabolic process|oxidative demethylation|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|electron carrier activity|heme binding|oxygen binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|skin(3)	21		Colorectal(252;0.0397)		all cancers(201;6.21e-05)	Aminophenazone(DB01424)|Amiodarone(DB01118)|Amodiaquine(DB00613)|Benzphetamine(DB00865)|Carbamazepine(DB00564)|Cerivastatin(DB00439)|Diclofenac(DB00586)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lovastatin(DB00227)|Midazolam(DB00683)|Montelukast(DB00471)|Nicardipine(DB00622)|Paclitaxel(DB01229)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rifampin(DB01045)|Rosiglitazone(DB00412)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Tolbutamide(DB01124)|Torasemide(DB00214)|Tretinoin(DB00755)|Trimethoprim(DB00440)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zopiclone(DB01198)	ATTGAATCTTTTCATCAGGGT	0.408													4	64					0	0	1	0	0	A	96824603	T	A	96824603	3	1	266	1	0	0	0	0	1	0	0	0	4190	1841	64	5	900	5	CYP2C8	10	96824603	Missense_Mutation	SNP	T	TCGA-HT-7688-01A-11D-2253-08	289306	96824603	38710144	79	27731											
MKI67	4288	broad.mit.edu	37	10	129923863	129923863	+	Missense_Mutation	SNP	G	G	C			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr10:129923863G>C	ENST00000368654.3	-	2	444	c.69C>G	c.(67-69)agC>agG	p.S23R	MKI67_ENST00000368653.3_Missense_Mutation_p.S23R	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	23					cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				AGGTGCTGAGGCTCAGGGGAA	0.517													11	104					0	0	1	0	0	C	129923863	G	C	129923863	3	2	266	1	0	0	0	0	1	0	0	0	9646	1194	42	5	9757	5	MKI67	10	129923863	Missense_Mutation	SNP	G	TCGA-HT-7688-01A-11D-2253-08	33099260	129923863	5610884	80	27732											
DCHS1	8642	broad.mit.edu	37	11	6645159	6645159	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr11:6645159C>G	ENST00000299441.3	-	21	8159	c.7748G>C	c.(7747-7749)aGc>aCc	p.S2583T		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	2583	Cadherin 24.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CACGACTGAGCTTTGGGGTGG	0.537													9	163					0	0	1	0	0	G	6645159	C	G	6645159	3	3	266	1	0	0	0	0	1	0	0	0	4310	797	28	4	2152	4	DCHS1	11	6645159	Missense_Mutation	SNP	C	TCGA-HT-7688-01A-11D-2253-08		6645159	128361357	81	27733											
DCHS1	8642	broad.mit.edu	37	11	6645181	6645181	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr11:6645181C>G	ENST00000299441.3	-	21	8137	c.7726G>C	c.(7726-7728)Gac>Cac	p.D2576H		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	2576	Cadherin 24.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGCCCACGGTCAGCTGCAGCC	0.562													5	111					0	0	1	0	0	G	6645181	C	G	6645181	3	3	266	1	0	0	0	0	1	0	0	0	4310	826	29	5	2174	5	DCHS1	11	6645181	Missense_Mutation	SNP	C	TCGA-HT-7688-01A-11D-2253-08	22	6645181	128361335	82	27734											
EXPH5	23086	broad.mit.edu	37	11	108381248	108381248	+	Silent	SNP	G	G	A			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr11:108381248G>A	ENST00000265843.4	-	6	5096	c.4986C>T	c.(4984-4986)aaC>aaT	p.N1662N	EXPH5_ENST00000525344.1_Silent_p.N1655N|EXPH5_ENST00000428840.1_Silent_p.N1586N|EXPH5_ENST00000443411.1_Silent_p.N1474N	NM_015065.2	NP_055880	Q149M6	Q149M6_HUMAN	exophilin 5	1662					intracellular protein transport		Rab GTPase binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		CATGCTTTCCGTTCTCACTCA	0.473													7	187					0	0	1	0	0	A	108381248	G	A	108381248	2	1	266	1	0	0	0	0	0	0	0	1	5350	1136	40	1		1	EXPH5	11	108381248	Silent	SNP	G	TCGA-HT-7688-01A-11D-2253-08	101736067	108381248	26625268	83	27735											
SORL1	6653	broad.mit.edu	37	11	121429381	121429381	+	Silent	SNP	G	G	C			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr11:121429381G>C	ENST00000260197.7	+	20	2874	c.2745G>C	c.(2743-2745)ctG>ctC	p.L915L		NM_003105.5	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	915					cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		CCTATCACCTGGTGTCTGAGG	0.532													8	200					0	0	1	0	0	C	121429381	G	C	121429381	2	2	266	1	0	0	0	0	0	0	0	1	14988	1335	47	5		5	SORL1	11	121429381	Silent	SNP	G	TCGA-HT-7688-01A-11D-2253-08	13048133	121429381	13577135	84	27736											
CDON	50937	broad.mit.edu	37	11	125891236	125891237	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr11:125891236_125891237delAA	ENST00000392693.3	-	3	382_383	c.255_256delTT	c.(253-258)ctttctfs	p.S86fs	CDON_ENST00000263577.7_Frame_Shift_Del_p.S86fs	NM_001243597.1|NM_016952.4	NP_001230526.1|NP_058648.4	Q4KMG0	CDON_HUMAN	cell adhesion associated, oncogene regulated	86	Ig-like C2-type 1.				cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	protein binding			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(9)|ovary(3)|prostate(2)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	61	all_hematologic(175;0.177)	Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604)		GAGTTGAGAGAAAGAATTGTCA	0.475													19	74	---	---	---	---						-	125891237	AA	-	125891236	7	5	266	1	0	1	0	1	0	0	0	0	3192	246	9	0	3610	0	CDON	11	125891236	Frame_Shift_Del	DEL	AA	TCGA-HT-7688-01A-11D-2253-08	4461855	125891236	9115280	85	27737											
RPUSD4	84881	broad.mit.edu	37	11	126075477	126075477	+	Missense_Mutation	SNP	C	C	T	rs143531642		TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr11:126075477C>T	ENST00000298317.4	-	5	735	c.682G>A	c.(682-684)Gat>Aat	p.D228N	RPUSD4_ENST00000534393.1_5'UTR|RPUSD4_ENST00000533628.1_Intron	NM_032795.2	NP_116184.2	Q96CM3	RUSD4_HUMAN	RNA pseudouridylate synthase domain containing 4	228					pseudouridine synthesis		protein binding|pseudouridine synthase activity|RNA binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(8)|skin(1)	17	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0761)		ATTTTCCCATCGTCCATGCGG	0.557													8	102					0	0	1	0	0	T	126075477	C	T	126075477	3	4	266	1	0	0	0	0	1	0	0	0	13721	884	31	1	463	1	RPUSD4	11	126075477	Missense_Mutation	SNP	C	TCGA-HT-7688-01A-11D-2253-08	184241	126075477	8931039	86	27738											
ITPR2	3709	broad.mit.edu	37	12	26985677	26985677	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr12:26985677T>C	ENST00000381340.3	-	1	454	c.38A>G	c.(37-39)gAc>gGc	p.D13G	ITPR2_ENST00000242737.5_Missense_Mutation_p.D13G	NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	13					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					GGACACGATGTCCCCTATGTA	0.622													3	104					0	0	1	0	0	C	26985677	T	C	26985677	3	2	266	1	0	0	0	0	1	0	0	0	7965	1667	58	3	8295	3	ITPR2	12	26985677	Missense_Mutation	SNP	T	TCGA-HT-7688-01A-11D-2253-08		26985677	106866218	87	27739											
C12orf40	283461	broad.mit.edu	37	12	40076514	40076514	+	Missense_Mutation	SNP	A	A	C			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr12:40076514A>C	ENST00000324616.5	+	8	942	c.788A>C	c.(787-789)aAa>aCa	p.K263T	C12orf40_ENST00000405531.3_Missense_Mutation_p.K263T|C12orf40_ENST00000398716.1_Missense_Mutation_p.K186T	NM_001031748.2	NP_001026918.2	Q86WS4	CL040_HUMAN	chromosome 12 open reading frame 40	263										breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2)	38						ATTACTGAAAAACACTCAATA	0.353													3	79					0	0	1	0	0	C	40076514	A	C	40076514	3	2	266	1	0	0	0	0	1	0	0	0	1692	14	1	5	818	5	C12orf40	12	40076514	Missense_Mutation	SNP	A	TCGA-HT-7688-01A-11D-2253-08	13090837	40076514	93775381	88	27740											
HOXC4	3221	broad.mit.edu	37	12	54447735	54447735	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr12:54447735C>G	ENST00000430889.2	+	1	75	c.29C>G	c.(28-30)tCt>tGt	p.S10C	HOXC4_ENST00000303406.4_Missense_Mutation_p.S10C|HOXC4_ENST00000609810.1_Missense_Mutation_p.S10C	NM_153633.2	NP_705897.1	P09017	HXC4_HUMAN	homeobox C4	10						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	13						TTGATGGACTCTAACTACATC	0.423													10	70					0	0	1	0	0	G	54447735	C	G	54447735	3	3	266	1	0	0	0	0	1	0	0	0	7354	913	32	4	31	4	HOXC4	12	54447735	Missense_Mutation	SNP	C	TCGA-HT-7688-01A-11D-2253-08	14371221	54447735	79404160	89	27741											
NCKAP1L	3071	broad.mit.edu	37	12	54917243	54917243	+	Silent	SNP	G	G	A			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr12:54917243G>A	ENST00000293373.6	+	19	2023	c.1944G>A	c.(1942-1944)agG>agA	p.R648R	NCKAP1L_ENST00000545638.2_Silent_p.R598R	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	648					actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						GGAAGCAGAGGCAGACTCCCA	0.522													6	96					0	0	1	0	0	A	54917243	G	A	54917243	2	1	266	1	0	0	0	0	0	0	0	1	10269	1194	42	2		2	NCKAP1L	12	54917243	Silent	SNP	G	TCGA-HT-7688-01A-11D-2253-08	469508	54917243	78934652	90	27742											
PTPRR	5801	broad.mit.edu	37	12	71050530	71050532	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr12:71050530_71050532delCTT	ENST00000283228.2	-	13	2284_2286	c.1832_1834delAAG	c.(1831-1836)gaagga>gga	p.E611del	PTPRR_ENST00000378778.1_In_Frame_Del_p.E405del|PTPRR_ENST00000537619.2_5'UTR|PTPRR_ENST00000440835.2_In_Frame_Del_p.E366del|PTPRR_ENST00000342084.4_In_Frame_Del_p.E499del|PTPRR_ENST00000549308.1_In_Frame_Del_p.E366del	NM_002849.3	NP_002840.2	Q15256	PTPRR_HUMAN	protein tyrosine phosphatase, receptor type, R	611	Tyrosine-protein phosphatase.				in utero embryonic development	cell surface|Golgi apparatus|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)		TCCACAACTCCTTCTTCTTTCAG	0.433													43	159	---	---	---	---						-	71050532	CTT	-	71050530	7	5	266	1	0	1	0	1	0	0	0	0	12862	690	24	0	147	0	PTPRR	12	71050530	In_Frame_Del	DEL	CTT	TCGA-HT-7688-01A-11D-2253-08	16133287	71050530	62801365	91	27743											
CLIP1	6249	broad.mit.edu	37	12	122773037	122773037	+	Splice_Site	DEL	T	T	-			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr12:122773037delT	ENST00000358808.2	-	20	3767	c.3613delA	c.(3613-3615)aga>ga	p.R1205fs	CLIP1_ENST00000361654.4_Splice_Site_p.R1094fs|CLIP1_ENST00000545889.1_Splice_Site_p.R791fs|CLIP1_ENST00000537178.1_Splice_Site_p.R1170fs|CLIP1_ENST00000540338.1_Splice_Site_p.R1216fs|CLIP1_ENST00000302528.7_Splice_Site_p.R1205fs	NM_001247997.1|NM_002956.2	NP_001234926.1|NP_002947.1	P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1	1216					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)		AAAGCTTACCTTTTTTTCATT	0.333													7	16	---	---	---	---						-	122773037	T	-	122773037	8	5	266	1	0	1	0	1	0	0	1	0	3555	1623	56	0	694	0	CLIP1	12	122773037	Splice_Site	DEL	T	TCGA-HT-7688-01A-11D-2253-08	51722507	122773037	11078858	92	27744											
RNF6	6049	broad.mit.edu	37	13	26788671	26788671	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr13:26788671G>A	ENST00000381588.4	-	5	2100	c.1348C>T	c.(1348-1350)Cgg>Tgg	p.R450W	RNF6_ENST00000399762.2_Missense_Mutation_p.R94W|RNF6_ENST00000346166.3_Missense_Mutation_p.R450W|RNF6_ENST00000381570.3_Missense_Mutation_p.R450W|RNF6_ENST00000468480.1_Intron	NM_005977.3	NP_005968.1	Q9Y252	RNF6_HUMAN	ring finger protein (C3H2C3 type) 6	450					negative regulation of axon extension|positive regulation of transcription, DNA-dependent|protein K27-linked ubiquitination|protein K48-linked ubiquitination|protein K6-linked ubiquitination|regulation of androgen receptor signaling pathway|ubiquitin-dependent protein catabolic process	axon|cytoplasm|PML body	androgen receptor binding|ubiquitin-protein ligase activity|zinc ion binding	p.R450W(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(3)|ovary(2)|prostate(2)|skin(2)	23	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.00893)|Epithelial(112;0.0481)|OV - Ovarian serous cystadenocarcinoma(117;0.148)|GBM - Glioblastoma multiforme(144;0.23)|Lung(94;0.245)		ATACCTGACCGCTCTAAACGA	0.438													3	68					0	0	1	0	0	A	26788671	G	A	26788671	3	1	266	1	0	0	0	0	1	0	0	0	13550	1086	38	1	713	1	RNF6	13	26788671	Missense_Mutation	SNP	G	TCGA-HT-7688-01A-11D-2253-08		26788671	88381207	93	27745											
CUL4A	8451	broad.mit.edu	37	13	113891149	113891149	+	Silent	SNP	T	T	C			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr13:113891149T>C	ENST00000451881.1	+	9	810	c.561T>C	c.(559-561)atT>atC	p.I187I	CUL4A_ENST00000326335.4_Silent_p.I187I|CUL4A_ENST00000375441.3_Silent_p.I187I|CUL4A_ENST00000375440.4_Silent_p.I287I	NM_001278513.1|NM_003589.2	NP_001265442.1|NP_003580.1	Q13619	CUL4A_HUMAN	cullin 4A	287					cell cycle arrest|DNA repair|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex	ubiquitin protein ligase binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|skin(1)	17	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.112)			AACCACTGATTGCTTGTGTGG	0.358													3	56					0	0	1	0	0	C	113891149	T	C	113891149	2	2	266	1	0	0	0	0	0	0	0	1	4080	1800	63	3		3	CUL4A	13	113891149	Silent	SNP	T	TCGA-HT-7688-01A-11D-2253-08	87102478	113891149	1278729	94	27746											
SUPT16H	11198	broad.mit.edu	37	14	21838616	21838616	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr14:21838616A>G	ENST00000216297.2	-	4	700	c.362T>C	c.(361-363)aTg>aCg	p.M121T		NM_007192.3	NP_009123.1	Q9Y5B9	SP16H_HUMAN	suppressor of Ty 16 homolog (S. cerevisiae)	121					DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|nucleoplasm	GTP binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(95;0.00115)		Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)		GGCTTCAATCATTTTGTCAAA	0.383													4	53					0	0	1	0	0	G	21838616	A	G	21838616	3	3	266	1	0	0	0	0	1	0	0	0	15452	217	8	3	2873	3	SUPT16H	14	21838616	Missense_Mutation	SNP	A	TCGA-HT-7688-01A-11D-2253-08		21838616	85510924	95	27747											
CHD8	57680	broad.mit.edu	37	14	21861840	21861840	+	Silent	SNP	T	T	G			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr14:21861840T>G	ENST00000399982.2	-	31	6178	c.6114A>C	c.(6112-6114)ccA>ccC	p.P2038P	CHD8_ENST00000557364.1_Silent_p.P2038P|CHD8_ENST00000430710.3_Silent_p.P1759P	NM_001170629.1	NP_001164100.1	Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	2038					ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		CATAGTCTTGTGGGGTTGGTC	0.547													5	51					0	0	1	0	0	G	21861840	T	G	21861840	2	3	266	1	0	0	0	0	0	0	0	1	3353	1683	59	5		5	CHD8	14	21861840	Silent	SNP	T	TCGA-HT-7688-01A-11D-2253-08	23224	21861840	85487700	96	27748											
TRIM9	114088	broad.mit.edu	37	14	51446210	51446210	+	Silent	SNP	T	T	C			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr14:51446210T>C	ENST00000298355.3	-	9	3086	c.1965A>G	c.(1963-1965)agA>agG	p.R655R	TRIM9_ENST00000338969.5_Silent_p.R736R	NM_015163.5	NP_055978.4	Q9C026	TRIM9_HUMAN	tripartite motif containing 9	655	B30.2/SPRY.				proteasomal ubiquitin-dependent protein catabolic process	cell junction|cytoskeleton|dendrite|synaptic vesicle	protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_epithelial(31;0.00418)|Breast(41;0.148)					TCAAGTTTTTTCTATTTAAGT	0.453													11	186					0	0	1	0	0	C	51446210	T	C	51446210	2	2	266	1	0	0	0	0	0	0	0	1	16610	1780	62	3		3	TRIM9	14	51446210	Silent	SNP	T	TCGA-HT-7688-01A-11D-2253-08	29584370	51446210	55903330	97	27749											
C14orf37	145407	broad.mit.edu	37	14	58605972	58605974	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr14:58605972_58605974delCCT	ENST00000267485.7	-	2	297_299	c.103_105delAGG	c.(103-105)aggdel	p.R35del	C14orf37_ENST00000334342.5_5'UTR	NM_001001872.2	NP_001001872.2	Q86TY3	CN037_HUMAN	chromosome 14 open reading frame 37	35						integral to membrane	binding			breast(7)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|skin(1)	33						GTGCTATCTCCCTCCTCCTTTCT	0.478													36	110	---	---	---	---						-	58605974	CCT	-	58605972	7	5	266	1	0	1	0	1	0	0	0	0	1777	622	22	0	2247	0	C14orf37	14	58605972	In_Frame_Del	DEL	CCT	TCGA-HT-7688-01A-11D-2253-08	7159762	58605972	48743568	98	27750											
PCNX	22990	broad.mit.edu	37	14	71492954	71492954	+	Missense_Mutation	SNP	A	A	C			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr14:71492954A>C	ENST00000304743.2	+	14	3750	c.3304A>C	c.(3304-3306)Ata>Cta	p.I1102L	PCNX_ENST00000439984.3_Missense_Mutation_p.I991L|PCNX_ENST00000238570.5_Missense_Mutation_p.I1102L	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	1102						integral to membrane				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		ATTATATGGAATAACTTTCAC	0.338													3	23					0	0	1	0	0	C	71492954	A	C	71492954	3	2	266	1	0	0	0	0	1	0	0	0	11638	101	4	4	3358	4	PCNX	14	71492954	Missense_Mutation	SNP	A	TCGA-HT-7688-01A-11D-2253-08	12886982	71492954	35856586	99	27751											
GATM	2628	broad.mit.edu	37	15	45658331	45658331	+	Silent	SNP	T	T	C			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr15:45658331T>C	ENST00000396659.3	-	6	1230	c.891A>G	c.(889-891)aaA>aaG	p.K297K	GATM_ENST00000558336.1_Silent_p.K297K	NM_001482.2	NP_001473.1	P50440	GATM_HUMAN	glycine amidinotransferase (L-arginine:glycine amidinotransferase)	297					creatine biosynthetic process	mitochondrial inner membrane|mitochondrial intermembrane space	glycine amidinotransferase activity|protein binding			biliary_tract(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	15		all_cancers(109;1.25e-09)|all_epithelial(112;5.56e-08)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;4.87e-16)|GBM - Glioblastoma multiforme(94;1.97e-06)	Creatine(DB00148)|Glycine(DB00145)|L-Ornithine(DB00129)	GATTGGGATCTTTAAAGGAGA	0.428													21	59					0	0	1	0	0	C	45658331	T	C	45658331	2	2	266	1	0	0	0	0	0	0	0	1	6303	1606	56	3		3	GATM	15	45658331	Silent	SNP	T	TCGA-HT-7688-01A-11D-2253-08		45658331	56873061	100	27752											
SEMA6D	80031	broad.mit.edu	37	15	48052514	48052514	+	Nonsense_Mutation	SNP	T	T	A			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr15:48052514T>A	ENST00000316364.5	+	3	562	c.123T>A	c.(121-123)taT>taA	p.Y41*	SEMA6D_ENST00000389425.3_Nonsense_Mutation_p.Y41*|SEMA6D_ENST00000354744.4_Nonsense_Mutation_p.Y41*|SEMA6D_ENST00000389432.2_Nonsense_Mutation_p.Y41*|SEMA6D_ENST00000558816.1_Nonsense_Mutation_p.Y41*|SEMA6D_ENST00000355997.3_Nonsense_Mutation_p.Y41*|SEMA6D_ENST00000558014.1_Nonsense_Mutation_p.Y41*|SEMA6D_ENST00000537942.1_Nonsense_Mutation_p.Y41*|SEMA6D_ENST00000389428.3_Nonsense_Mutation_p.Y41*|SEMA6D_ENST00000358066.4_Nonsense_Mutation_p.Y41*|SEMA6D_ENST00000389433.2_Nonsense_Mutation_p.Y41*|SEMA6D_ENST00000536845.2_Nonsense_Mutation_p.Y41*	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	41	Sema.				axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity			biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		CAAGGCAATATCCGGTTTTTA	0.418													3	53					0	0	1	0	0	A	48052514	T	A	48052514	4	1	266	1	0	0	0	0	0	1	0	0	14096	1442	50	4	129	4	SEMA6D	15	48052514	Nonsense_Mutation	SNP	T	TCGA-HT-7688-01A-11D-2253-08	2394183	48052514	54478878	101	27753											
ALDH1A2	8854	broad.mit.edu	37	15	58254315	58254315	+	Silent	SNP	G	G	A			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr15:58254315G>A	ENST00000249750.4	-	10	1913	c.1146C>T	c.(1144-1146)ggC>ggT	p.G382G	ALDH1A2_ENST00000558231.1_Silent_p.G353G|ALDH1A2_ENST00000559517.1_Silent_p.G286G|ALDH1A2_ENST00000537372.1_Silent_p.G361G|ALDH1A2_ENST00000347587.3_Silent_p.G344G	NM_003888.3	NP_003879.2	O94788	AL1A2_HUMAN	aldehyde dehydrogenase 1 family, member A2	382					negative regulation of cell proliferation|neural tube development|response to cytokine stimulus	nucleus	3-chloroallyl aldehyde dehydrogenase activity|retinal binding|retinal dehydrogenase activity			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18)	NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)	CCAGCTTGGCGCCCTCAGCCA	0.473													4	91					0	0	1	0	0	A	58254315	G	A	58254315	2	1	266	1	0	0	0	0	0	0	0	1	488	1074	38	1		1	ALDH1A2	15	58254315	Silent	SNP	G	TCGA-HT-7688-01A-11D-2253-08	10201801	58254315	44277077	102	27754											
RASGRF1	5923	broad.mit.edu	37	15	79296193	79296193	+	Silent	SNP	G	G	A	rs111385391	byFrequency	TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr15:79296193G>A	ENST00000419573.3	-	16	2722	c.2448C>T	c.(2446-2448)ggC>ggT	p.G816G	RASGRF1_ENST00000394745.3_Silent_p.G32G|RASGRF1_ENST00000560334.1_5'UTR|RASGRF1_ENST00000558480.2_Silent_p.G800G	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	818					activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						GGGTCGTATCGCCCTCATCTG	0.612													5	62					0	0	1	0	0	A	79296193	G	A	79296193	2	1	266	1	0	0	0	0	0	0	0	1	13124	1074	38	1		1	RASGRF1	15	79296193	Silent	SNP	G	TCGA-HT-7688-01A-11D-2253-08	21041878	79296193	23235199	103	27755											
PDE8A	5151	broad.mit.edu	37	15	85619979	85619979	+	Missense_Mutation	SNP	G	G	C			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr15:85619979G>C	ENST00000310298.4	+	6	759	c.507G>C	c.(505-507)gaG>gaC	p.E169D	PDE8A_ENST00000394553.1_Missense_Mutation_p.E169D|PDE8A_ENST00000557957.1_Missense_Mutation_p.E97D|PDE8A_ENST00000339708.5_Missense_Mutation_p.E169D|PDE8A_ENST00000557819.2_3'UTR			O60658	PDE8A_HUMAN	phosphodiesterase 8A	169					cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	25	Colorectal(223;0.227)		BRCA - Breast invasive adenocarcinoma(143;0.0608)			ATAGAGAAGAGTTGTCCGTAA	0.294													10	107					0	0	1	0	0	C	85619979	G	C	85619979	3	2	266	1	0	0	0	0	1	0	0	0	11700	1020	36	4	525	4	PDE8A	15	85619979	Missense_Mutation	SNP	G	TCGA-HT-7688-01A-11D-2253-08	6323786	85619979	16911413	104	27756											
ATXN2L	11273	broad.mit.edu	37	16	28846954	28846954	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr16:28846954C>G	ENST00000336783.4	+	21	2937	c.2770C>G	c.(2770-2772)Ccc>Gcc	p.P924A	RP11-24N18.1_ENST00000563565.1_RNA|ATXN2L_ENST00000564304.1_Missense_Mutation_p.P930A|ATXN2L_ENST00000340394.8_Missense_Mutation_p.P924A|ATXN2L_ENST00000395547.2_Missense_Mutation_p.P924A|ATXN2L_ENST00000570200.1_Missense_Mutation_p.P924A|ATXN2L_ENST00000325215.6_Missense_Mutation_p.P924A|ATXN2L_ENST00000382686.4_Missense_Mutation_p.P924A	NM_007245.3	NP_009176.2	Q8WWM7	ATX2L_HUMAN	ataxin 2-like	924						membrane				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						AGGCACGCCGCCCTCTCTGCC	0.677													5	61					0	0	1	0	0	G	28846954	C	G	28846954	3	3	266	1	0	0	0	0	1	0	0	0	1210	739	26	5	2852	5	ATXN2L	16	28846954	Missense_Mutation	SNP	C	TCGA-HT-7688-01A-11D-2253-08		28846954	61507799	105	27757											
ITGAM	3684	broad.mit.edu	37	16	31308840	31308840	+	Silent	SNP	C	C	T			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr16:31308840C>T	ENST00000544665.3	+	13	1433	c.1362C>T	c.(1360-1362)ggC>ggT	p.G454G	ITGAM_ENST00000287497.8_Silent_p.G454G	NM_000632.3|NM_001145808.1	NP_000623.2|NP_001139280.1	P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)	454					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						TTCAGATCGGCGCCTACTTCG	0.582													6	228					0	0	1	0	0	T	31308840	C	T	31308840	2	4	266	1	0	0	0	0	0	0	0	1	7931	755	27	1		1	ITGAM	16	31308840	Silent	SNP	C	TCGA-HT-7688-01A-11D-2253-08	2461886	31308840	59045913	106	27758											
TP53	7157	broad.mit.edu	37	17	7578394	7578394	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr17:7578394T>C	ENST00000420246.2	-	5	668	c.536A>G	c.(535-537)cAt>cGt	p.H179R	TP53_ENST00000455263.2_Missense_Mutation_p.H179R|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000359597.4_Missense_Mutation_p.H179R|TP53_ENST00000269305.4_Missense_Mutation_p.H179R|TP53_ENST00000445888.2_Missense_Mutation_p.H179R|TP53_ENST00000413465.2_Missense_Mutation_p.H179R	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	179	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).|HH -> QS (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.H179R(108)|p.H179L(43)|p.P177_C182delPHHERC(8)|p.0?(8)|p.H47L(4)|p.H86L(4)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H179P(3)|p.H178_S183delHHERCS(3)|p.R175_E180delRCPHHE(3)|p.P177fs*3(2)|p.V173fs*59(2)|p.H86R(2)|p.H47R(2)|p.R174fs*1(2)|p.H179fs*68(1)|p.C176fs*65(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H46_S51delHHERCS(1)|p.H178fs*6(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.H85_S90delHHERCS(1)|p.E171fs*1(1)|p.R174fs*3(1)|p.E171fs*61(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)		GCAGCGCTCATGGTGGGGGCA	0.642		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)			52	37					0	0	1	0	0	C	7578394	T	C	7578394	3	2	266	1	0	0	0	0	1	0	0	0	16442	1464	51	3	762	3	TP53	17	7578394	Missense_Mutation	SNP	T	TCGA-HT-7688-01A-11D-2253-08		7578394	73616816	107	27759											
ALDH3A1	218	broad.mit.edu	37	17	19646621	19646621	+	Silent	SNP	G	G	A			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr17:19646621G>A	ENST00000457500.2	-	2	647	c.318C>T	c.(316-318)ggC>ggT	p.G106G	ALDH3A1_ENST00000225740.6_Silent_p.G106G|ALDH3A1_ENST00000395555.3_Silent_p.G106G|ALDH3A1_ENST00000485231.1_5'UTR|ALDH3A1_ENST00000494157.2_Silent_p.G33G|ALDH3A1_ENST00000444455.1_Silent_p.G106G	NM_001135168.1	NP_001128640.1	P30838	AL3A1_HUMAN	aldehyde dehydrogenase 3 family, member A1	106					cellular aldehyde metabolic process	cytosol|endoplasmic reticulum	alcohol dehydrogenase (NADP+) activity|aldehyde dehydrogenase|aldehyde dehydrogenase (NAD) activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|urinary_tract(1)	13	all_cancers(12;4.01e-05)|all_epithelial(12;0.00301)|Breast(13;0.186)			Colorectal(15;0.0829)	NADH(DB00157)	CGAGGACCACGCCCAGTGGCT	0.627													4	80					0	0	1	0	0	A	19646621	G	A	19646621	2	1	266	1	0	0	0	0	0	0	0	1	494	1074	38	1		1	ALDH3A1	17	19646621	Silent	SNP	G	TCGA-HT-7688-01A-11D-2253-08	12068227	19646621	61548589	108	27760											
TRAF4	9618	broad.mit.edu	37	17	27076467	27076468	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr17:27076467_27076468delGA	ENST00000262395.5	+	7	1414_1415	c.1285_1286delGA	c.(1285-1287)gagfs	p.E429fs	TRAF4_ENST00000444415.3_Intron|TRAF4_ENST00000262396.6_Splice_Site	NM_004295.3	NP_004286.2	Q9BUZ4	TRAF4_HUMAN	TNF receptor-associated factor 4	429	MATH.				apoptosis|positive regulation of JNK cascade|positive regulation of protein homodimerization activity|positive regulation of protein kinase activity|regulation of apoptosis|signal transduction	cytoskeleton|nucleus|perinuclear region of cytoplasm|tight junction	DNA binding|ubiquitin-protein ligase activity|WW domain binding|zinc ion binding			endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	10	Lung NSC(42;0.01)		Epithelial(11;3.26e-05)|all cancers(11;0.000272)|OV - Ovarian serous cystadenocarcinoma(11;0.235)			CTCCCTGGATGAGAGTTCTCTG	0.554													8	92	---	---	---	---						-	27076468	GA	-	27076467	7	5	266	1	0	1	0	1	0	0	0	0	16504	1291	45	0	1311	0	TRAF4	17	27076467	Frame_Shift_Del	DEL	GA	TCGA-HT-7688-01A-11D-2253-08	7429846	27076467	54118743	109	27761											
CPD	1362	broad.mit.edu	37	17	28706125	28706125	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr17:28706125A>G	ENST00000225719.4	+	1	203	c.127A>G	c.(127-129)Act>Gct	p.T43A		NM_001304.4	NP_001295.2	O75976	CBPD_HUMAN	carboxypeptidase D	43	Carboxypeptidase-like 1.				proteolysis	integral to membrane	metallocarboxypeptidase activity|serine-type carboxypeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(13)|skin(5)|stomach(1)|urinary_tract(1)	36						GACTACCACAACTACGAGCGC	0.706													2	2					0	0	1	0	0	G	28706125	A	G	28706125	3	3	266	1	0	0	0	0	1	0	0	0	3821	43	2	3	129	3	CPD	17	28706125	Missense_Mutation	SNP	A	TCGA-HT-7688-01A-11D-2253-08	1629658	28706125	52489085	110	27762											
ZNF207	7756	broad.mit.edu	37	17	30696691	30696691	+	Silent	SNP	G	G	A			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr17:30696691G>A	ENST00000394670.4	+	12	1567	c.1398G>A	c.(1396-1398)ccG>ccA	p.P466P	ZNF207_ENST00000321233.6_Silent_p.P450P|ZNF207_ENST00000341711.6_Silent_p.P367P|ZNF207_ENST00000394673.2_Silent_p.P435P|ZNF207_ENST00000577908.1_Silent_p.P466P|ZNF207_ENST00000342555.6_Silent_p.P469P	NM_001098507.1	NP_001091977.1	O43670	ZN207_HUMAN	zinc finger protein 207	450						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|lung(3)|urinary_tract(2)	10		Breast(31;0.116)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.239)			GGCAGGGACCGCCAATGGTGC	0.527													7	57					0	0	1	0	0	A	30696691	G	A	30696691	2	1	266	1	0	0	0	0	0	0	0	1	17823	1074	38	1		1	ZNF207	17	30696691	Silent	SNP	G	TCGA-HT-7688-01A-11D-2253-08	1990566	30696691	50498519	111	27763											
CCR7	1236	broad.mit.edu	37	17	38715155	38715155	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr17:38715155A>G	ENST00000246657.2	-	2	112	c.50T>C	c.(49-51)gTc>gCc	p.V17A	CCR7_ENST00000579344.1_Missense_Mutation_p.V11A	NM_001838.3	NP_001829.1	P32248	CCR7_HUMAN	chemokine (C-C motif) receptor 7	17					cell maturation|immunological synapse formation|inflammatory response|interleukin-12 secretion|lymphocyte migration into lymph node|positive regulation of dendritic cell antigen processing and presentation|positive regulation of glycoprotein biosynthetic process|positive regulation of humoral immune response|positive regulation of hypersensitivity|positive regulation of interleukin-12 production|positive regulation of neutrophil chemotaxis|regulation of interferon-gamma production|regulation of interleukin-1 beta secretion|T cell costimulation	integral to membrane|intracellular	C-C chemokine receptor activity|chemokine (C-C motif) ligand 19 binding|chemokine (C-C motif) ligand 21 binding			breast(1)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		Breast(137;0.000496)				CTGGAAAATGACAAGGAGAGC	0.498													4	48					0	0	1	0	0	G	38715155	A	G	38715155	3	3	266	1	0	0	0	0	1	0	0	0	2968	275	10	3	1094	3	CCR7	17	38715155	Missense_Mutation	SNP	A	TCGA-HT-7688-01A-11D-2253-08	8018464	38715155	42480055	112	27764											
KRT33A	3883	broad.mit.edu	37	17	39503321	39503321	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr17:39503321C>T	ENST00000007735.3	-	4	786	c.742G>A	c.(742-744)Gcc>Acc	p.A248T		NM_004138.3	NP_004129.2	O76009	KT33A_HUMAN	keratin 33A	248	Coil 2.|Rod.					intermediate filament	protein binding|structural molecule activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	21		Breast(137;0.000496)				ACCTGCGTGGCGAACCATTGC	0.622													5	58					0	0	1	0	0	T	39503321	C	T	39503321	3	4	266	1	0	0	0	0	1	0	0	0	8512	768	27	1	488	1	KRT33A	17	39503321	Missense_Mutation	SNP	C	TCGA-HT-7688-01A-11D-2253-08	788166	39503321	41691889	113	27765											
JUP	3728	broad.mit.edu	37	17	39779208	39779208	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr17:39779208C>T	ENST00000540235.1	-	5	985	c.986G>A	c.(985-987)cGc>cAc	p.R329H	KRT17_ENST00000311208.8_Missense_Mutation_p.R170H			P14923	PLAK_HUMAN	junction plakoglobin	0					adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway involved in heart development|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development	actin cytoskeleton|Axin-APC-beta-catenin-GSK3B complex|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|Z disc|zonula adherens	alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|RPTP-like protein binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	23		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)		TCACTTGGTGCGGAAGTCATC	0.587													7	163					0	0	1	0	0	T	39779208	C	T	39779208	3	4	266	1	0	0	0	0	1	0	0	0	8016	768	27	1		1	JUP	17	39779208	Missense_Mutation	SNP	C	TCGA-HT-7688-01A-11D-2253-08	275887	39779208	41416002	114	27766											
PHB	5245	broad.mit.edu	37	17	47486775	47486775	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr17:47486775G>A	ENST00000300408.3	-	4	383	c.311C>T	c.(310-312)cCt>cTt	p.P104L	PHB_ENST00000508009.1_5'UTR|RP11-81K2.1_ENST00000576461.1_Intron|PHB_ENST00000511832.1_Missense_Mutation_p.P104L	NM_001281496.1|NM_001281715.1|NM_002634.2	NP_001268425.1|NP_001268644.1|NP_002625.1	P35232	PHB_HUMAN	prohibitin	104					cellular response to interleukin-6|DNA replication|glucocorticoid receptor signaling pathway|histone deacetylation|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of transcription by competitive promoter binding|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|progesterone receptor signaling pathway|regulation of apoptosis	integral to plasma membrane|mitochondrial inner membrane|nucleoplasm	histone deacetylase binding|transcription regulatory region DNA binding			endometrium(4)|large_intestine(2)|lung(4)	10	all_cancers(4;2.62e-14)|Breast(4;4.21e-29)|all_epithelial(4;6.9e-18)		Epithelial(5;8.1e-06)|all cancers(6;7.71e-05)			GAAGATGCGAGGAAGCTGGCT	0.512													3	137					0	0	1	0	0	A	47486775	G	A	47486775	3	1	266	1	0	0	0	0	1	0	0	0	11862	1000	35	2	523	2	PHB	17	47486775	Missense_Mutation	SNP	G	TCGA-HT-7688-01A-11D-2253-08	7707567	47486775	33708435	115	27767											
C17orf47	284083	broad.mit.edu	37	17	56620229	56620229	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr17:56620229C>T	ENST00000321691.3	-	1	1500	c.1319G>A	c.(1318-1320)aGc>aAc	p.S440N	RP11-112H10.4_ENST00000580769.1_RNA|RP11-112H10.4_ENST00000580589.1_RNA|RP11-112H10.4_ENST00000578022.1_RNA	NM_001038704.2	NP_001033793	Q8NEP4	CQ047_HUMAN	chromosome 17 open reading frame 47	440										NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	24	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TGTCAGCTGGCTTTGGGGTGT	0.507													43	72					0	0	1	0	0	T	56620229	C	T	56620229	3	4	266	1	0	0	0	0	1	0	0	0	1867	797	28	2	401	2	C17orf47	17	56620229	Missense_Mutation	SNP	C	TCGA-HT-7688-01A-11D-2253-08	9133454	56620229	24574981	116	27768											
ABCA6	23460	broad.mit.edu	37	17	67080574	67080574	+	Splice_Site	SNP	T	T	C			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr17:67080574T>C	ENST00000284425.2	-	33	4433	c.4259A>G	c.(4258-4260)aAg>aGg	p.K1420R	ABCA6_ENST00000446604.2_5'UTR	NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	1420	ABC transporter 2.				transport	integral to membrane	ATP binding|ATPase activity			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					CGCACGTACCTTTCTCGTGAT	0.453													126	286					0	0	1	0	0	C	67080574	T	C	67080574	5	2	266	1	0	0	0	0	0	0	1	0	36	1623	56	3	622	3	ABCA6	17	67080574	Splice_Site	SNP	T	TCGA-HT-7688-01A-11D-2253-08	10460345	67080574	14114636	117	27769											
SLC26A11	284129	broad.mit.edu	37	17	78199637	78199637	+	Splice_Site	SNP	A	A	G			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr17:78199637A>G	ENST00000361193.3	+	6	795	c.515A>G	c.(514-516)aAc>aGc	p.N172S	SLC26A11_ENST00000546047.2_Splice_Site_p.N172S|SLC26A11_ENST00000572725.1_Splice_Site_p.N172S|SLC26A11_ENST00000411502.3_Splice_Site_p.N172S	NM_001166347.1|NM_173626.3	NP_001159819.1|NP_775897.3	Q86WA9	S2611_HUMAN	solute carrier family 26 (anion exchanger), member 11	172						endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosomal membrane|plasma membrane	anion:anion antiporter activity|secondary active sulfate transmembrane transporter activity			central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	28	all_neural(118;0.0538)		OV - Ovarian serous cystadenocarcinoma(97;0.0344)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			TTTGGACAGAACCTGCTGGGA	0.587													19	135					0	0	1	0	0	G	78199637	A	G	78199637	5	3	266	1	0	0	0	0	0	0	1	0	14571	57	2	3	529	3	SLC26A11	17	78199637	Splice_Site	SNP	A	TCGA-HT-7688-01A-11D-2253-08	11119063	78199637	2995573	118	27770											
ASXL3	80816	broad.mit.edu	37	18	31325552	31325552	+	Missense_Mutation	SNP	G	G	C			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr18:31325552G>C	ENST00000269197.5	+	12	5740	c.5740G>C	c.(5740-5742)Gac>Cac	p.D1914H		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	1914					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						ATTTCATGTTGACAAGAATGG	0.532													4	105					0	0	1	0	0	C	31325552	G	C	31325552	3	2	266	1	0	0	0	0	1	0	0	0	1067	1290	45	5	5786	5	ASXL3	18	31325552	Missense_Mutation	SNP	G	TCGA-HT-7688-01A-11D-2253-08		31325552	46751696	119	27771											
MC4R	4160	broad.mit.edu	37	18	58038877	58038877	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr18:58038877G>A	ENST00000299766.3	-	1	1124	c.706C>T	c.(706-708)Cgc>Tgc	p.R236C		NM_005912.2	NP_005903.2	P32245	MC4R_HUMAN	melanocortin 4 receptor	236					feeding behavior|G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of bone resorption|positive regulation of cAMP biosynthetic process	integral to membrane|plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|ubiquitin protein ligase binding			endometrium(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	17		Colorectal(73;0.0946)				GCACCTTGGCGGATGGCACCA	0.517													11	48					0	0	1	0	0	A	58038877	G	A	58038877	3	1	266	1	0	0	0	0	1	0	0	0	9416	1116	39	1	296	1	MC4R	18	58038877	Missense_Mutation	SNP	G	TCGA-HT-7688-01A-11D-2253-08	26713325	58038877	20038371	120	27772											
KRI1	65095	broad.mit.edu	37	19	10671046	10671046	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr19:10671046G>A	ENST00000312962.6	-	9	779	c.760C>T	c.(760-762)Cgc>Tgc	p.R254C	KRI1_ENST00000361821.5_Missense_Mutation_p.R250C	NM_023008.3	NP_075384.3	Q8N9T8	KRI1_HUMAN	KRI1 homolog (S. cerevisiae)	254	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)			tcctcATAGCGTTTGTTGAGG	0.552													6	50					0	0	1	0	0	A	10671046	G	A	10671046	3	1	266	1	0	0	0	0	1	0	0	0	8487	1145	40	1	1413	1	KRI1	19	10671046	Missense_Mutation	SNP	G	TCGA-HT-7688-01A-11D-2253-08		10671046	48457937	121	27773											
SMARCA4	6597	broad.mit.edu	37	19	11106926	11106928	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr19:11106926_11106928delAGA	ENST00000358026.2	+	10	1915_1917	c.1631_1633delAGA	c.(1630-1635)cagaag>cag	p.K546del	SMARCA4_ENST00000444061.3_In_Frame_Del_p.K546del|SMARCA4_ENST00000589677.1_In_Frame_Del_p.K546del|SMARCA4_ENST00000429416.3_In_Frame_Del_p.K546del|SMARCA4_ENST00000450717.3_In_Frame_Del_p.K546del|SMARCA4_ENST00000413806.3_In_Frame_Del_p.K546del|SMARCA4_ENST00000344626.4_In_Frame_Del_p.K546del|SMARCA4_ENST00000541122.2_In_Frame_Del_p.K546del|SMARCA4_ENST00000590574.1_In_Frame_Del_p.K546del	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	546					chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				CTCATCGACCAGAAGAAGGACAA	0.576			"F, N, Mis"		NSCLC								29	146	---	---	---	---						-	11106928	AGA	-	11106926	7	5	266	1	0	1	0	1	0	0	0	0	14824	188	7	0	1665	0	SMARCA4	19	11106926	In_Frame_Del	DEL	AGA	TCGA-HT-7688-01A-11D-2253-08	435880	11106926	48022057	122	27774											
CYP4F22	126410	broad.mit.edu	37	19	15651449	15651449	+	Missense_Mutation	SNP	G	G	A	rs146265982		TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr19:15651449G>A	ENST00000269703.3	+	8	1059	c.860G>A	c.(859-861)cGt>cAt	p.R287H	CYP4F22_ENST00000601005.2_Missense_Mutation_p.R287H	NM_173483.3	NP_775754.2	Q6NT55	CP4FN_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 22							endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen			endometrium(6)|large_intestine(9)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	37						CGGGCACTGCGTCAGCAGGGG	0.632													21	66					0	0	1	0	0	A	15651449	G	A	15651449	3	1	266	1	0	0	0	0	1	0	0	0	4212	1145	40	1	882	1	CYP4F22	19	15651449	Missense_Mutation	SNP	G	TCGA-HT-7688-01A-11D-2253-08	4544523	15651449	43477534	123	27775											
ISYNA1	51477	broad.mit.edu	37	19	18545911	18545911	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr19:18545911G>A	ENST00000338128.8	-	11	1706	c.1489C>T	c.(1489-1491)Ccg>Tcg	p.P497S	ISYNA1_ENST00000545187.1_Missense_Mutation_p.P347S|ISYNA1_ENST00000578963.1_Missense_Mutation_p.P369S|ISYNA1_ENST00000317018.6_Missense_Mutation_p.P295S|ISYNA1_ENST00000457269.4_Missense_Mutation_p.P443S	NM_001170938.1|NM_016368.4	NP_001164409.1|NP_057452.1	Q9NPH2	INO1_HUMAN	inositol-3-phosphate synthase 1						inositol biosynthetic process|phospholipid biosynthetic process	cytoplasm	binding|inositol-3-phosphate synthase activity			breast(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	12						TTCTGTGGCGGGAGCCCCACG	0.627													3	57					0	0	1	0	0	A	18545911	G	A	18545911	3	1	266	1	0	0	0	0	1	0	0	0	7911	1232	43	2	191	2	ISYNA1	19	18545911	Missense_Mutation	SNP	G	TCGA-HT-7688-01A-11D-2253-08	2894462	18545911	40583072	124	27776											
ZNF599	148103	broad.mit.edu	37	19	35250972	35250972	+	Missense_Mutation	SNP	T	T	G			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr19:35250972T>G	ENST00000329285.8	-	4	1107	c.734A>C	c.(733-735)cAt>cCt	p.H245P		NM_001007248.2	NP_001007249.1	Q96NL3	ZN599_HUMAN	zinc finger protein 599						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|skin(1)	24	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)			AAGCCTCATATGTCGAATGAC	0.488													3	92					0	0	1	0	0	G	35250972	T	G	35250972	3	3	266	1	0	0	0	0	1	0	0	0	18086	1464	51	4	1036	4	ZNF599	19	35250972	Missense_Mutation	SNP	T	TCGA-HT-7688-01A-11D-2253-08	16705061	35250972	23878011	125	27777											
NPHS1	4868	broad.mit.edu	37	19	36340183	36340183	+	Silent	SNP	G	G	A			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr19:36340183G>A	ENST00000378910.5	-	7	794	c.795C>T	c.(793-795)tgC>tgT	p.C265C	NPHS1_ENST00000353632.6_Silent_p.C265C	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)	265	Ig-like C2-type 3.		C -> R (in NPHS1).		cell adhesion|excretion|muscle organ development	integral to plasma membrane				NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CTCGGGCCACGCACGGCAGCT	0.657													13	31					0	0	1	0	0	A	36340183	G	A	36340183	2	1	266	1	0	0	0	0	0	0	0	1	10629	1079	38	1		1	NPHS1	19	36340183	Silent	SNP	G	TCGA-HT-7688-01A-11D-2253-08	1089211	36340183	22788800	126	27778											
SIPA1L3	23094	broad.mit.edu	37	19	38643516	38643516	+	Silent	SNP	T	T	C			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr19:38643516T>C	ENST00000222345.6	+	13	4079	c.3570T>C	c.(3568-3570)gaT>gaC	p.D1190D		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	1190					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			TATCTCTTGATCCCCACTTCA	0.617													39	149					0	0	1	0	0	C	38643516	T	C	38643516	2	2	266	1	0	0	0	0	0	0	0	1	14386	1432	50	3		3	SIPA1L3	19	38643516	Silent	SNP	T	TCGA-HT-7688-01A-11D-2253-08	2303333	38643516	20485467	127	27779											
PSG6	5675	broad.mit.edu	37	19	43411958	43411958	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr19:43411958T>C	ENST00000187910.2	-	4	820	c.755A>G	c.(754-756)gAg>gGg	p.E252G	PSG6_ENST00000292125.2_Missense_Mutation_p.E252G|PSG6_ENST00000402603.4_Intron	NM_001031850.3	NP_001027020.1			pregnancy specific beta-1-glycoprotein 6											central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(19)|ovary(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44		Prostate(69;0.00899)				ATCCTTCTTCTCCCTGGGGTT	0.502													5	219					0	0	1	0	0	C	43411958	T	C	43411958	3	2	266	1	0	0	0	0	1	0	0	0	12708	1551	54	3	603	3	PSG6	19	43411958	Missense_Mutation	SNP	T	TCGA-HT-7688-01A-11D-2253-08	4768442	43411958	15717025	128	27780											
PTPRH	5794	broad.mit.edu	37	19	55708772	55708772	+	Missense_Mutation	SNP	A	A	C			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr19:55708772A>C	ENST00000376350.3	-	9	1725	c.1703T>G	c.(1702-1704)gTc>gGc	p.V568G	PTPRH_ENST00000588559.1_5'UTR|PTPRH_ENST00000263434.5_Missense_Mutation_p.V390G	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	568	Fibronectin type-III 7.				apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		GAGATCTGTGACCTCATTGGG	0.552													3	77					0	0	1	0	0	C	55708772	A	C	55708772	3	2	266	1	0	0	0	0	1	0	0	0	12855	275	10	5	1692	5	PTPRH	19	55708772	Missense_Mutation	SNP	A	TCGA-HT-7688-01A-11D-2253-08	12296814	55708772	3420211	129	27781											
ZNF17	7565	broad.mit.edu	37	19	57932608	57932608	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr19:57932608A>G	ENST00000307658.7	+	4	2017	c.1754A>G	c.(1753-1755)aAa>aGa	p.K585R	AC004076.7_ENST00000597410.1_Intron|ZNF17_ENST00000601808.1_Missense_Mutation_p.K583R			P17021	ZNF17_HUMAN	zinc finger protein 17	583					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0234)|GBM - Glioblastoma multiforme(193;0.000426)|Lung(386;0.176)		AGAACTTACAAATGCAGCAAA	0.428													9	31					0	0	1	0	0	G	57932608	A	G	57932608	3	3	266	1	0	0	0	0	1	0	0	0	17801	14	1	3	1758	3	ZNF17	19	57932608	Missense_Mutation	SNP	A	TCGA-HT-7688-01A-11D-2253-08	2223836	57932608	1196375	130	27782											
TGM6	343641	broad.mit.edu	37	20	2411182	2411182	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr20:2411182T>C	ENST00000202625.2	+	11	1830	c.1769T>C	c.(1768-1770)gTc>gCc	p.V590A	TGM6_ENST00000381423.1_Missense_Mutation_p.V590A	NM_198994.2	NP_945345.2	O95932	TGM3L_HUMAN	transglutaminase 6	590					cell death|peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52					L-Glutamine(DB00130)	ATGTGCCTTGTCACCAAAGGA	0.458													4	57					0	0	1	0	0	C	2411182	T	C	2411182	3	2	266	1	0	0	0	0	1	0	0	0	15894	1667	58	3	1811	3	TGM6	20	2411182	Missense_Mutation	SNP	T	TCGA-HT-7688-01A-11D-2253-08		2411182	60614338	131	27783											
TPX2	22974	broad.mit.edu	37	20	30388772	30388772	+	Splice_Site	SNP	G	G	C			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr20:30388772G>C	ENST00000340513.4	+	19	2769		c.e19-1		TPX2_ENST00000300403.6_Splice_Site			Q9ULW0	TPX2_HUMAN	TPX2, microtubule-associated						activation of protein kinase activity|apoptosis|cell division|cell proliferation|mitosis|regulation of mitotic spindle organization	cytoplasm|microtubule|nucleus|spindle pole	ATP binding|GTP binding|protein kinase binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28			Epithelial(4;0.000771)|Colorectal(19;0.00306)|all cancers(5;0.004)|COAD - Colon adenocarcinoma(19;0.0347)|OV - Ovarian serous cystadenocarcinoma(3;0.0656)			TTACTTTGCAGGTGCATAAGG	0.398													9	142					0	0	1	0	0	C	30388772	G	C	30388772	5	2	266	1	0	0	0	0	0	0	1	0	16493	1014	35	4	2195	4	TPX2	20	30388772	Splice_Site	SNP	G	TCGA-HT-7688-01A-11D-2253-08	27977590	30388772	32636748	132	27784											
COL20A1	57642	broad.mit.edu	37	20	61960983	61960983	+	Silent	SNP	G	G	A			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr20:61960983G>A	ENST00000422202.1	+	34	3935	c.3867G>A	c.(3865-3867)ggG>ggA	p.G1289G	COL20A1_ENST00000496810.1_3'UTR|COL20A1_ENST00000326996.6_Silent_p.G1308G|COL20A1_ENST00000435874.1_Silent_p.G1289G|COL20A1_ENST00000358894.6_Silent_p.G1276G			Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	1276					cell adhesion	collagen|extracellular space	structural molecule activity			NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					GGCAGCAGGGGGCTAGCACCC	0.662													4	21					0	0	1	0	0	A	61960983	G	A	61960983	2	1	266	1	0	0	0	0	0	0	0	1	3702	1219	43	2		2	COL20A1	20	61960983	Silent	SNP	G	TCGA-HT-7688-01A-11D-2253-08	31572211	61960983	1064537	133	27785											
ZNF512B	57473	broad.mit.edu	37	20	62598777	62598777	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr20:62598777T>C	ENST00000450537.1	-	3	281	c.221A>G	c.(220-222)aAg>aGg	p.K74R	ZNF512B_ENST00000217130.3_Missense_Mutation_p.K74R|ZNF512B_ENST00000369888.1_Missense_Mutation_p.K74R			Q96KM6	Z512B_HUMAN	zinc finger protein 512B	74					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1)	33	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					TGGCCGCCCCTTTTTCTTCCC	0.632													4	150					0	0	1	0	0	C	62598777	T	C	62598777	3	2	266	1	0	0	0	0	1	0	0	0	18014	1609	56	3	2517	3	ZNF512B	20	62598777	Missense_Mutation	SNP	T	TCGA-HT-7688-01A-11D-2253-08	637794	62598777	426743	134	27786											
OSBP2	23762	broad.mit.edu	37	22	31137232	31137232	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr22:31137232C>G	ENST00000332585.6	+	2	833	c.729C>G	c.(727-729)atC>atG	p.I243M	OSBP2_ENST00000407373.1_Missense_Mutation_p.I70M|OSBP2_ENST00000403222.3_Missense_Mutation_p.I78M|OSBP2_ENST00000382310.3_Missense_Mutation_p.I243M|OSBP2_ENST00000446658.2_Missense_Mutation_p.I243M	NM_001282739.1|NM_001282740.1|NM_001282741.1|NM_001282742.1|NM_030758.3	NP_001269668.1|NP_001269669.1|NP_001269670.1|NP_001269671.1|NP_110385.1	Q969R2	OSBP2_HUMAN	oxysterol binding protein 2	243	PH.				lipid transport	membrane	lipid binding			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1)	19						CTTGTGGTATCTTGCTGACCA	0.597													4	65					0	0	1	0	0	G	31137232	C	G	31137232	3	3	266	1	0	0	0	0	1	0	0	0	11321	903	32	4	735	4	OSBP2	22	31137232	Missense_Mutation	SNP	C	TCGA-HT-7688-01A-11D-2253-08		31137232	20167334	135	27787											
APOBEC3F	200316	broad.mit.edu	37	22	39439012	39439012	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr22:39439012C>T	ENST00000308521.5	+	2	445	c.88C>T	c.(88-90)Cgg>Tgg	p.R30W	APOBEC3F_ENST00000491387.1_3'UTR|APOBEC3F_ENST00000381565.2_Missense_Mutation_p.R30W|APOBEC3G_ENST00000452957.2_Intron	NM_145298.5	NP_660341.2	Q9HC16	ABC3G_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3F	30					base conversion or substitution editing|DNA cytosine deamination|innate immune response|interspecies interaction between organisms|negative regulation of retroviral genome replication|negative regulation of transposition|positive regulation of defense response to virus by host|response to virus|viral reproduction	apolipoprotein B mRNA editing enzyme complex|cytosol|mitochondrion	cytidine deaminase activity|dCTP deaminase activity|protein homodimerization activity|RNA binding|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|skin(2)	16	Melanoma(58;0.04)					CCTTTCTCGTCGGAATACCGT	0.488													5	23					0	0	1	0	0	T	39439012	C	T	39439012	3	4	266	1	0	0	0	0	1	0	0	0	790	875	31	1	94	1	APOBEC3F	22	39439012	Missense_Mutation	SNP	C	TCGA-HT-7688-01A-11D-2253-08	8301780	39439012	11865554	136	27788											
MSL3	10943	broad.mit.edu	37	X	11783854	11783854	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chrX:11783854T>C	ENST00000337339.2	+	9	1204	c.1177T>C	c.(1177-1179)Ttc>Ctc	p.F393L	MSL3_ENST00000398527.2_Intron|MSL3_ENST00000361672.2_Intron|MSL3_ENST00000380693.3_Intron|MSL3_ENST00000312196.4_Intron|MSL3_ENST00000467141.1_Intron	NM_078628.1	NP_523352.1	Q8N5Y2	MS3L1_HUMAN	male-specific lethal 3 homolog (Drosophila)	0					histone H4-K16 acetylation|multicellular organismal development|transcription from RNA polymerase II promoter	MSL complex	DNA binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|urinary_tract(1)	19						AAAGAGTAGGTTCATTCTCGG	0.587													22	100					0	0	1	0	0	C	11783854	T	C	11783854	3	2	266	1	0	0	0	0	1	0	0	0	9928	1725	60	3	1211	3	MSL3	23	11783854	Missense_Mutation	SNP	T	TCGA-HT-7688-01A-11D-2253-08		11783854	143486706	137	27789											
ATRX	546	broad.mit.edu	37	X	76875860	76875861	+	Splice_Site	DEL	CA	CA	-			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chrX:76875860_76875861delCA	ENST00000373344.5	-	20	5487		c.e20+1		ATRX_ENST00000395603.3_Splice_Site|ATRX_ENST00000480283.1_Splice_Site	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked						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)	GATATTAACTCACACTCAATTA	0.317			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						9	34	---	---	---	---						-	76875861	CA	-	76875860	8	5	266	1	0	1	0	1	0	0	1	0	1206	841	29	0		0	ATRX	23	76875860	Splice_Site	DEL	CA	TCGA-HT-7688-01A-11D-2253-08	65092006	76875860	78394700	138	27790											
LHFPL1	340596	broad.mit.edu	37	X	111914407	111914407	+	Missense_Mutation	SNP	G	G	C			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chrX:111914407G>C	ENST00000371968.3	-	2	451	c.212C>G	c.(211-213)gCc>gGc	p.A71G	LHFPL1_ENST00000478229.1_Intron|LHFPL1_ENST00000536453.1_Missense_Mutation_p.A71G	NM_178175.3	NP_835469.1	Q86WI0	LHPL1_HUMAN	lipoma HMGIC fusion partner-like 1	71						integral to membrane				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)	13						ATTGAAGCTGGCATAGCGCCC	0.592													3	57					0	0	1	0	0	C	111914407	G	C	111914407	3	2	266	1	0	0	0	0	1	0	0	0	8804	1203	42	5	462	5	LHFPL1	23	111914407	Missense_Mutation	SNP	G	TCGA-HT-7688-01A-11D-2253-08	35038547	111914407	43356153	139	27791											
FRMD7	90167	broad.mit.edu	37	X	131212491	131212491	+	Silent	SNP	A	A	G			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chrX:131212491A>G	ENST00000298542.4	-	12	1729	c.1554T>C	c.(1552-1554)agT>agC	p.S518S	FRMD7_ENST00000370879.1_Silent_p.S398S|FRMD7_ENST00000464296.1_Silent_p.S503S	NM_194277.2	NP_919253.1	Q6ZUT3	FRMD7_HUMAN	FERM domain containing 7	518					regulation of neuron projection development	cytoskeleton|growth cone|neuronal cell body	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Acute lymphoblastic leukemia(192;0.000127)					AGCTATGTGGACTTGTCCTTT	0.493													3	84					0	0	1	0	0	G	131212491	A	G	131212491	2	3	266	1	0	0	0	0	0	0	0	1	6090	272	10	3		3	FRMD7	23	131212491	Silent	SNP	A	TCGA-HT-7688-01A-11D-2253-08	19298084	131212491	24058069	140	27792											
FMR1NB	158521	broad.mit.edu	37	X	147084823	147084823	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chrX:147084823A>G	ENST00000370467.3	+	2	454	c.380A>G	c.(379-381)aAt>aGt	p.N127S		NM_152578.2	NP_689791.1	Q8N0W7	FMR1N_HUMAN	fragile X mental retardation 1 neighbor	127	P-type.					integral to membrane		p.F130fs*17(1)		breast(2)|cervix(1)|endometrium(3)|large_intestine(7)|lung(10)|ovary(1)|skin(1)	25	Acute lymphoblastic leukemia(192;6.56e-05)					GCTTTGCTGAATTTTTTCTTT	0.373													5	22					0	0	1	0	0	G	147084823	A	G	147084823	3	3	266	1	0	0	0	0	1	0	0	0	5994	101	4	3	386	3	FMR1NB	23	147084823	Missense_Mutation	SNP	A	TCGA-HT-7688-01A-11D-2253-08	15872332	147084823	8185737	141	27793											
UTY	7404	broad.mit.edu	37	Y	15522901	15522901	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chrY:15522901A>G	ENST00000331397.4	-	6	1534	c.527T>C	c.(526-528)gTg>gCg	p.V176A	UTY_ENST00000540140.1_Missense_Mutation_p.V176A|UTY_ENST00000362096.4_Missense_Mutation_p.V176A|UTY_ENST00000537580.1_Missense_Mutation_p.V176A|UTY_ENST00000329134.5_Missense_Mutation_p.V176A|UTY_ENST00000545955.1_Missense_Mutation_p.V176A|UTY_ENST00000474365.1_5'UTR|UTY_ENST00000382896.4_Missense_Mutation_p.V176A|UTY_ENST00000538878.1_Missense_Mutation_p.V176A|UTY_ENST00000382893.1_Missense_Mutation_p.V176A	NM_001258267.1|NM_007125.4	NP_001245196.1|NP_009056.3	O14607	UTY_HUMAN	ubiquitously transcribed tetratricopeptide repeat containing, Y-linked	176					chromatin modification	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			kidney(1)|lung(6)	7						GTCTGTGTTCACTTTGAACAT	0.413													18	29					0	0	1	0	0	G	15522901	A	G	15522901	3	3	266	1	0	0	0	0	1	0	0	0	17167	159	6	3	3871	3	UTY	24	15522901	Missense_Mutation	SNP	A	TCGA-HT-7688-01A-11D-2253-08		15522901	43850665	142	27794											
ATAD3C	219293	broad.mit.edu	37	1	1386075	1386075	+	Silent	SNP	C	C	T			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr1:1386075C>T	ENST00000378785.2	+	1	1007	c.12C>T	c.(10-12)gaC>gaT	p.D4D		NM_001039211.2	NP_001034300.2	Q5T2N8	ATD3C_HUMAN	ATPase family, AAA domain containing 3C	4							ATP binding|nucleoside-triphosphatase activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|lung(4)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		TGTCAAAGGACGCCCTGAATC	0.642													4	18					0	0	1	0	0	T	1386075	C	T	1386075	2	4	267	1	0	0	0	0	0	0	0	1	1074	535	19	1		1	ATAD3C	1	1386075	Silent	SNP	C	TCGA-HT-7689-01A-11D-2253-08		1386075	247864546	1	27795											
OBSCN	84033	broad.mit.edu	37	1	228529180	228529180	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr1:228529180C>T	ENST00000570156.2	+	85	20844	c.20770C>T	c.(20770-20772)Cgc>Tgc	p.R6924C	OBSCN_ENST00000284548.11_Missense_Mutation_p.R5967C|OBSCN_ENST00000366709.4_Missense_Mutation_p.R3086C|OBSCN_ENST00000422127.1_Missense_Mutation_p.R5967C|OBSCN_ENST00000366707.4_Missense_Mutation_p.R3601C	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	5967					apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GGGGGATGACCGCGCCTTCGA	0.637													12	21					0	0	1	0	0	T	228529180	C	T	228529180	3	4	267	1	0	0	0	0	1	0	0	0	10860	652	23	1	18189	1	OBSCN	1	228529180	Missense_Mutation	SNP	C	TCGA-HT-7689-01A-11D-2253-08	227143105	228529180	20721441	2	27796											
EIF2B4	8890	broad.mit.edu	37	2	27591981	27591981	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr2:27591981G>A	ENST00000493344.2	-	3	685	c.373C>T	c.(373-375)Cgt>Tgt	p.R125C	EIF2B4_ENST00000445933.2_Missense_Mutation_p.R103C|EIF2B4_ENST00000347454.4_Missense_Mutation_p.R104C|EIF2B4_ENST00000451130.2_Missense_Mutation_p.R124C			Q9UI10	EI2BD_HUMAN	eukaryotic translation initiation factor 2B, subunit 4 delta, 67kDa	104					myelination|negative regulation of translational initiation in response to stress|oligodendrocyte development|ovarian follicle development|response to glucose stimulus|response to heat|response to peptide hormone stimulus	cytosol|eukaryotic translation initiation factor 2B complex	translation initiation factor activity|translation initiation factor binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(5)|skin(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTGGCTCGACGCTCAGCCCGA	0.602													59	108					0	0	1	0	0	A	27591981	G	A	27591981	3	1	267	1	0	0	0	0	1	0	0	0	5029	1087	38	1	1301	1	EIF2B4	2	27591981	Missense_Mutation	SNP	G	TCGA-HT-7689-01A-11D-2253-08		27591981	215607392	3	27797											
PROKR1	10887	broad.mit.edu	37	2	68873428	68873428	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr2:68873428G>A	ENST00000303786.3	+	2	895	c.475G>A	c.(475-477)Gcc>Acc	p.A159T	PROKR1_ENST00000394342.2_Missense_Mutation_p.A159T			Q8TCW9	PKR1_HUMAN	prokineticin receptor 1	159						integral to membrane|plasma membrane	neuropeptide Y receptor activity			endometrium(3)|kidney(2)|large_intestine(14)|lung(9)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						GCTGGCCATCGCCATTGACAG	0.592													20	95					0	0	1	0	0	A	68873428	G	A	68873428	3	1	267	1	0	0	0	0	1	0	0	0	12604	1087	38	1	477	1	PROKR1	2	68873428	Missense_Mutation	SNP	G	TCGA-HT-7689-01A-11D-2253-08	41281447	68873428	174325945	4	27798											
TTN	7273	broad.mit.edu	37	2	179641277	179641277	+	Missense_Mutation	SNP	T	T	A	rs150725992	byFrequency	TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr2:179641277T>A	ENST00000589042.1	-	28	5538	c.5314A>T	c.(5314-5316)Agt>Tgt	p.S1772C	TTN_ENST00000359218.5_Missense_Mutation_p.S1726C|TTN_ENST00000460472.2_Missense_Mutation_p.S1726C|TTN_ENST00000342175.6_Missense_Mutation_p.S1726C|TTN_ENST00000591111.1_Missense_Mutation_p.S1772C|TTN_ENST00000342992.6_Missense_Mutation_p.S1772C|TTN_ENST00000360870.5_Missense_Mutation_p.S1772C	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	1525	Ig-like 8.		S -> G.				ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATGATACCACTGTCTCTAGAA	0.428													3	75					0	0	1	0	0	A	179641277	T	A	179641277	3	1	267	1	0	0	0	0	1	0	0	0	16797	1580	55	5	106014	5	TTN	2	179641277	Missense_Mutation	SNP	T	TCGA-HT-7689-01A-11D-2253-08	110767849	179641277	63558096	5	27799											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								30	72					0	0	1	0	0	T	209113112	C	T	209113112	3	4	267	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HT-7689-01A-11D-2253-08	29471835	209113112	34086261	6	27800											
MLPH	79083	broad.mit.edu	37	2	238449504	238449504	+	Silent	SNP	C	C	T			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr2:238449504C>T	ENST00000264605.3	+	11	1644	c.1350C>T	c.(1348-1350)gaC>gaT	p.D450D	MLPH_ENST00000338530.4_Silent_p.D422D|MLPH_ENST00000409373.1_Intron|MLPH_ENST00000445024.2_Silent_p.D450D|MLPH_ENST00000468178.1_3'UTR|MLPH_ENST00000410032.1_Silent_p.D307D	NM_024101.5	NP_077006.1	Q9BV36	MELPH_HUMAN	melanophilin	450							metal ion binding			NS(1)|breast(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(11)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1)	25		Breast(86;0.000381)|Renal(207;0.000966)|Ovarian(221;0.0695)|all_hematologic(139;0.095)|all_lung(227;0.17)|Melanoma(123;0.203)		Epithelial(121;1.17e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.02e-10)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.15e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000439)|Lung(119;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0316)		ACCCTGGGGACCCCGTCCAGT	0.607													8	24					0	0	1	0	0	T	238449504	C	T	238449504	2	4	267	1	0	0	0	0	0	0	0	1	9681	506	18	2		2	MLPH	2	238449504	Silent	SNP	C	TCGA-HT-7689-01A-11D-2253-08	29336392	238449504	4749869	7	27801											
RAB17	64284	broad.mit.edu	37	2	238483770	238483770	+	Splice_Site	SNP	G	G	A			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr2:238483770G>A	ENST00000264601.3	-	6	1160	c.531C>T	c.(529-531)gcC>gcT	p.A177A	RAB17_ENST00000409576.1_Intron|RAB17_ENST00000409822.1_Splice_Site_p.A50A|RAB17_ENST00000538644.1_Splice_Site_p.A50A	NM_022449.3	NP_071894.1	Q9H0T7	RAB17_HUMAN	RAB17, member RAS oncogene family	177					protein transport|small GTPase mediated signal transduction	intracellular|plasma membrane	GTP binding|protein binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(1)	4		Renal(207;0.00272)|Breast(86;0.00297)|all_hematologic(139;0.182)|Ovarian(221;0.221)		Epithelial(121;9.36e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.26e-10)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000354)|Lung(119;0.011)|LUSC - Lung squamous cell carcinoma(224;0.026)		GTAGCTCTTGGGCTGTGAACA	0.667													16	31					0	0	1	0	0	A	238483770	G	A	238483770	5	1	267	1	0	0	0	0	0	0	1	0	12954	1246	43	2	111	2	RAB17	2	238483770	Splice_Site	SNP	G	TCGA-HT-7689-01A-11D-2253-08	34266	238483770	4715603	8	27802											
BSN	8927	broad.mit.edu	37	3	49692138	49692138	+	Missense_Mutation	SNP	A	A	T			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr3:49692138A>T	ENST00000296452.4	+	5	5263	c.5149A>T	c.(5149-5151)Aac>Tac	p.N1717Y		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	1717					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		CTTGGTTATCAACCTCAATGC	0.567													10	261					0	0	1	0	0	T	49692138	A	T	49692138	3	4	267	1	0	0	0	0	1	0	0	0	1532	130	5	5	5167	5	BSN	3	49692138	Missense_Mutation	SNP	A	TCGA-HT-7689-01A-11D-2253-08		49692138	148330292	9	27803											
ITIH4	3700	broad.mit.edu	37	3	52850942	52850942	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr3:52850942G>A	ENST00000266041.4	-	21	2525	c.2429C>T	c.(2428-2430)tCt>tTt	p.S810F	ITIH4_ENST00000346281.5_Missense_Mutation_p.S794F|ITIH4_ENST00000406595.1_Missense_Mutation_p.S780F|ITIH4_ENST00000485816.1_Missense_Mutation_p.S815F|RP5-966M1.6_ENST00000468472.1_3'UTR	NM_002218.4	NP_002209.2	Q14624	ITIH4_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 4	810					acute-phase response|hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		CTTGTACGCAGAGCTTCTTCG	0.577													32	212					0	0	1	0	0	A	52850942	G	A	52850942	3	1	267	1	0	0	0	0	1	0	0	0	7950	942	33	2	379	2	ITIH4	3	52850942	Missense_Mutation	SNP	G	TCGA-HT-7689-01A-11D-2253-08	3158804	52850942	145171488	10	27804											
PLXNA1	5361	broad.mit.edu	37	3	126708270	126708270	+	Missense_Mutation	SNP	C	C	A			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr3:126708270C>A	ENST00000393409.2	+	1	834	c.834C>A	c.(832-834)ttC>ttA	p.F278L	PLXNA1_ENST00000251772.4_Missense_Mutation_p.F255L	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	278	Sema.				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		AGCACTTCTTCACGTCCAAGA	0.587													4	185					1	1	1	1	0	A	126708270	C	A	126708270	3	1	267	1	0	0	0	0	1	0	0	0	12167	825	29	5	836	5	PLXNA1	3	126708270	Missense_Mutation	SNP	C	TCGA-HT-7689-01A-11D-2253-08	73857328	126708270	71314160	11	27805											
PPP2R3A	5523	broad.mit.edu	37	3	135825112	135825112	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr3:135825112G>A	ENST00000264977.3	+	13	3894	c.3277G>A	c.(3277-3279)Gag>Aag	p.E1093K	PPP2R3A_ENST00000490467.1_Missense_Mutation_p.E357K|PPP2R3A_ENST00000469270.1_3'UTR|PPP2R3A_ENST00000334546.2_Missense_Mutation_p.E472K	NM_001190447.1|NM_002718.4	NP_001177376.1|NP_002709.2	Q06190	P2R3A_HUMAN	protein phosphatase 2, regulatory subunit B'', alpha	1093					protein dephosphorylation	protein phosphatase type 2A complex	calcium ion binding|protein binding|protein phosphatase type 2A regulator activity			breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						TGCCGCTGAGGAGTATGAGAC	0.463													28	58					0	0	1	0	0	A	135825112	G	A	135825112	3	1	267	1	0	0	0	0	1	0	0	0	12437	1175	41	2	3459	2	PPP2R3A	3	135825112	Missense_Mutation	SNP	G	TCGA-HT-7689-01A-11D-2253-08	9116842	135825112	62197318	12	27806											
ATR	545	broad.mit.edu	37	3	142224106	142224106	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr3:142224106C>T	ENST00000350721.4	-	29	5192	c.5071G>A	c.(5071-5073)Gga>Aga	p.G1691R	ATR_ENST00000383101.3_Missense_Mutation_p.G1627R	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related	1691	FAT.				cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						GCACTGACTCCGGCCACTCCA	0.388								Other conserved DNA damage response genes					29	229					0	0	1	0	0	T	142224106	C	T	142224106	3	4	267	1	0	0	0	0	1	0	0	0	1202	661	23	1	2939	1	ATR	3	142224106	Missense_Mutation	SNP	C	TCGA-HT-7689-01A-11D-2253-08	6398994	142224106	55798324	13	27807											
PPP2R2C	5522	broad.mit.edu	37	4	6380248	6380248	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr4:6380248G>A	ENST00000335585.5	-	3	243	c.220C>T	c.(220-222)Cag>Tag	p.Q74*	PPP2R2C_ENST00000382599.4_Nonsense_Mutation_p.Q74*|PPP2R2C_ENST00000507294.1_Nonsense_Mutation_p.Q67*|PPP2R2C_ENST00000515571.1_Nonsense_Mutation_p.Q57*|PPP2R2C_ENST00000314348.8_Intron|PPP2R2C_ENST00000506140.1_Nonsense_Mutation_p.Q67*	NM_181876.2	NP_870991.1	Q9Y2T4	2ABG_HUMAN	protein phosphatase 2, regulatory subunit B, gamma	74					signal transduction	protein phosphatase type 2A complex	protein phosphatase type 2A regulator activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	28						TCGTGGCTCTGGAAAGTGCTG	0.577													4	140					0	0	1	0	0	A	6380248	G	A	6380248	4	1	267	1	0	0	0	0	0	1	0	0	12435	1357	47	2	1151	2	PPP2R2C	4	6380248	Nonsense_Mutation	SNP	G	TCGA-HT-7689-01A-11D-2253-08		6380248	184774028	14	27808											
DRD5	1816	broad.mit.edu	37	4	9784872	9784872	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr4:9784872G>A	ENST00000304374.2	+	1	1615	c.1219G>A	c.(1219-1221)Gca>Aca	p.A407T		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5	407					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane				NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)	CAAGGAAATCGCAGCTGCCTA	0.582													4	68					0	0	1	0	0	A	9784872	G	A	9784872	3	1	267	1	0	0	0	0	1	0	0	0	4786	1087	38	1	1221	1	DRD5	4	9784872	Missense_Mutation	SNP	G	TCGA-HT-7689-01A-11D-2253-08	3404624	9784872	181369404	15	27809											
SPATA18	132671	broad.mit.edu	37	4	52927044	52927044	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr4:52927044G>A	ENST00000295213.4	+	3	664	c.290G>A	c.(289-291)aGc>aAc	p.S97N	SPATA18_ENST00000506829.1_Intron|SPATA18_ENST00000419395.2_Missense_Mutation_p.S97N	NM_145263.2	NP_660306.1	Q8TC71	MIEAP_HUMAN	spermatogenesis associated 18	97					mitochondrial protein catabolic process|mitochondrion degradation by induced vacuole formation|response to DNA damage stimulus	mitochondrial outer membrane	protein binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)			TCTGTTGACAGCAAGGTCCCC	0.478													3	51					0	0	1	0	0	A	52927044	G	A	52927044	3	1	267	1	0	0	0	0	1	0	0	0	15059	971	34	2	300	2	SPATA18	4	52927044	Missense_Mutation	SNP	G	TCGA-HT-7689-01A-11D-2253-08	43142172	52927044	138227232	16	27810											
FAT4	79633	broad.mit.edu	37	4	126240610	126240610	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr4:126240610T>C	ENST00000394329.3	+	1	3057	c.3044T>C	c.(3043-3045)tTc>tCc	p.F1015S		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1015	Cadherin 10.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						AATTCTCGATTCTTTAAAGTA	0.388													5	118					0	0	1	0	0	C	126240610	T	C	126240610	3	2	267	1	0	0	0	0	1	0	0	0	5725	1783	62	3	3046	3	FAT4	4	126240610	Missense_Mutation	SNP	T	TCGA-HT-7689-01A-11D-2253-08	73313566	126240610	64913666	17	27811											
SH3RF1	57630	broad.mit.edu	37	4	170043326	170043326	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr4:170043326G>A	ENST00000284637.9	-	7	1612	c.1271C>T	c.(1270-1272)gCt>gTt	p.A424V	SH3RF1_ENST00000508685.1_5'UTR	NM_020870.3	NP_065921.2	Q7Z6J0	SH3R1_HUMAN	SH3 domain containing ring finger 1	424	Poly-Ala.					Golgi apparatus|lamellipodium|perinuclear region of cytoplasm	ligase activity|zinc ion binding			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31		Prostate(90;0.00267)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)		TCCCATTCCAGCAGCAGCAGC	0.597													4	49					0	0	1	0	0	A	170043326	G	A	170043326	3	1	267	1	0	0	0	0	1	0	0	0	14313	971	34	2	1419	2	SH3RF1	4	170043326	Missense_Mutation	SNP	G	TCGA-HT-7689-01A-11D-2253-08	43802716	170043326	21110950	18	27812											
KLKB1	3818	broad.mit.edu	37	4	187173298	187173298	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr4:187173298A>G	ENST00000264690.6	+	11	1459	c.1272A>G	c.(1270-1272)atA>atG	p.I424M	KLKB1_ENST00000513864.1_Missense_Mutation_p.I424M	NM_000892.3	NP_000883.2	P03952	KLKB1_HUMAN	kallikrein B, plasma (Fletcher factor) 1	424	Peptidase S1.				blood coagulation, intrinsic pathway|Factor XII activation|fibrinolysis|plasminogen activation|positive regulation of fibrinolysis	cytoplasm|extracellular space|plasma membrane	serine-type endopeptidase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	40		all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168)		GGTCACTCATAGGACACCAGT	0.522													3	105					0	0	1	0	0	G	187173298	A	G	187173298	3	3	267	1	0	0	0	0	1	0	0	0	8455	410	15	3	1310	3	KLKB1	4	187173298	Missense_Mutation	SNP	A	TCGA-HT-7689-01A-11D-2253-08	17129972	187173298	3980978	19	27813											
HSD17B4	3295	broad.mit.edu	37	5	118829578	118829578	+	Missense_Mutation	SNP	G	G	C			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr5:118829578G>C	ENST00000504811.1	+	12	1064	c.880G>C	c.(880-882)Gtc>Ctc	p.V294L	HSD17B4_ENST00000509514.1_5'UTR|HSD17B4_ENST00000256216.6_Missense_Mutation_p.V269L|HSD17B4_ENST00000513628.1_Missense_Mutation_p.V132L|HSD17B4_ENST00000414835.2_Missense_Mutation_p.V129L|HSD17B4_ENST00000515320.1_Missense_Mutation_p.V251L|HSD17B4_ENST00000510025.1_Missense_Mutation_p.V245L	NM_001199291.1	NP_001186220.1	P51659	DHB4_HUMAN	hydroxysteroid (17-beta) dehydrogenase 4	269	(3R)-hydroxyacyl-CoA dehydrogenase.				bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	3-hydroxyacyl-CoA dehydrogenase activity|3alpha,7alpha,12alpha-trihydroxy-5beta-cholest-24-enoyl-CoA hydratase activity|estradiol 17-beta-dehydrogenase activity|isomerase activity|long-chain-enoyl-CoA hydratase activity|protein binding|sterol binding|sterol transporter activity			breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(2)	25		all_cancers(142;0.0206)|Prostate(80;0.0322)		OV - Ovarian serous cystadenocarcinoma(64;0.000247)|Epithelial(69;0.000849)|all cancers(49;0.0122)	NADH(DB00157)	TCCTGAGGCAGTCAAGGCTAA	0.473													5	62					0	0	1	0	0	C	118829578	G	C	118829578	3	2	267	1	0	0	0	0	1	0	0	0	7427	1029	36	4	847	4	HSD17B4	5	118829578	Missense_Mutation	SNP	G	TCGA-HT-7689-01A-11D-2253-08		118829578	62085682	20	27814											
RAPGEF6	51735	broad.mit.edu	37	5	130825275	130825275	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr5:130825275T>C	ENST00000509018.1	-	15	2009	c.1804A>G	c.(1804-1806)Act>Gct	p.T602A	RAPGEF6_ENST00000507093.1_Missense_Mutation_p.T602A|RAPGEF6_ENST00000307984.5_Missense_Mutation_p.T602A|RAPGEF6_ENST00000308008.6_Missense_Mutation_p.T602A|RAPGEF6_ENST00000512052.1_Missense_Mutation_p.T317A|RAPGEF6_ENST00000296859.6_Missense_Mutation_p.T602A|RAPGEF6_ENST00000510071.1_Missense_Mutation_p.T602A|CTC-432M15.3_ENST00000514667.1_Missense_Mutation_p.T652A	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6	602	PDZ.				Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		GCAAGATGAGTATTATTCCTC	0.269													7	13					0	0	1	0	0	C	130825275	T	C	130825275	3	2	267	1	0	0	0	0	1	0	0	0	13100	1638	57	3	3543	3	RAPGEF6	5	130825275	Missense_Mutation	SNP	T	TCGA-HT-7689-01A-11D-2253-08	11995697	130825275	50089985	21	27815											
PCDHA11	56138	broad.mit.edu	37	5	140249832	140249832	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr5:140249832G>A	ENST00000398640.2	+	1	1144	c.1144G>A	c.(1144-1146)Gga>Aga	p.G382R	PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA7_ENST00000525929.1_Intron	NM_018902.3	NP_061725.1														breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGTGTCAACGGACAGGTGAC	0.602													16	113					0	0	1	0	0	A	140249832	G	A	140249832	3	1	267	1	0	0	0	0	1	0	0	0	11568	1117	39	1	1146	1	PCDHA11	5	140249832	Missense_Mutation	SNP	G	TCGA-HT-7689-01A-11D-2253-08	9424557	140249832	40665428	22	27816											
PCDHB6	56130	broad.mit.edu	37	5	140531706	140531706	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr5:140531706G>T	ENST00000231136.1	+	1	1868	c.1868G>T	c.(1867-1869)cGc>cTc	p.R623L	PCDHB6_ENST00000543635.1_Missense_Mutation_p.R487L	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN		623	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGCGAGGTGCGCACCGCCAGG	0.687													4	86					0.150653	0.153965	1	1	0	T	140531706	G	T	140531706	3	4	267	1	0	0	0	0	1	0	0	0	11593	1087	38	5	1870	5	PCDHB6	5	140531706	Missense_Mutation	SNP	G	TCGA-HT-7689-01A-11D-2253-08	281874	140531706	40383554	23	27817											
FAT2	2196	broad.mit.edu	37	5	150924794	150924794	+	Missense_Mutation	SNP	C	C	A			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr5:150924794C>A	ENST00000261800.5	-	9	5906	c.5894G>T	c.(5893-5895)aGc>aTc	p.S1965I		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	1965					epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AAACTGCAAGCTTTTGTCAAG	0.483													7	40					0.307466	0.310808	1	1	0	A	150924794	C	A	150924794	3	1	267	1	0	0	0	0	1	0	0	0	5723	797	28	4	7215	4	FAT2	5	150924794	Missense_Mutation	SNP	C	TCGA-HT-7689-01A-11D-2253-08	10393088	150924794	29990466	24	27818											
TIMD4	91937	broad.mit.edu	37	5	156378737	156378737	+	Silent	SNP	G	G	A			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr5:156378737G>A	ENST00000274532.2	-	3	521	c.465C>T	c.(463-465)acC>acT	p.T155T	TIMD4_ENST00000407087.3_Silent_p.T155T	NM_138379.2	NP_612388.2	Q96H15	TIMD4_HUMAN	T-cell immunoglobulin and mucin domain containing 4	155	Thr-rich.					integral to membrane				NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2)	37	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GTCGGGTGGTGGTGGGGCTTG	0.532													10	367					0	0	1	0	0	A	156378737	G	A	156378737	2	1	267	1	0	0	0	0	0	0	0	1	15963	1335	47	2		2	TIMD4	5	156378737	Silent	SNP	G	TCGA-HT-7689-01A-11D-2253-08	5453943	156378737	24536523	25	27819											
ITPR3	3710	broad.mit.edu	37	6	33656101	33656101	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr6:33656101G>A	ENST00000374316.5	+	49	7521	c.6461G>A	c.(6460-6462)cGg>cAg	p.R2154Q	ITPR3_ENST00000605930.1_Missense_Mutation_p.R2154Q			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	2154					activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						ACCAAGCACCGGCTCTTCACC	0.597													46	105					0	0	1	0	0	A	33656101	G	A	33656101	3	1	267	1	0	0	0	0	1	0	0	0	7966	1116	39	1	6651	1	ITPR3	6	33656101	Missense_Mutation	SNP	G	TCGA-HT-7689-01A-11D-2253-08		33656101	137458966	26	27820											
SLC17A5	26503	broad.mit.edu	37	6	74354177	74354177	+	Missense_Mutation	SNP	C	C	A			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr6:74354177C>A	ENST00000355773.5	-	2	512	c.244G>T	c.(244-246)Gcg>Tcg	p.A82S	SLC17A5_ENST00000393019.3_Missense_Mutation_p.A82S|SLC17A5_ENST00000481996.1_5'UTR	NM_012434.4	NP_036566.1	Q9NRA2	S17A5_HUMAN	solute carrier family 17 (acidic sugar transporter), member 5	82					anion transport	integral to plasma membrane|lysosomal membrane|membrane fraction	sialic acid:hydrogen symporter activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TCTGGACACGCCTTGGAAGTT	0.348													10	35					2.27111e-07	2.37318e-07	1	1	0	A	74354177	C	A	74354177	3	1	267	1	0	0	0	0	1	0	0	0	14475	739	26	5	1283	5	SLC17A5	6	74354177	Missense_Mutation	SNP	C	TCGA-HT-7689-01A-11D-2253-08	40698076	74354177	96760890	27	27821											
ENPP3	5169	broad.mit.edu	37	6	131996232	131996232	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr6:131996232G>A	ENST00000414305.1	+	10	1103	c.775G>A	c.(775-777)Gca>Aca	p.A259T	ENPP3_ENST00000543135.1_Missense_Mutation_p.A225T|ENPP3_ENST00000358229.5_Missense_Mutation_p.A259T|ENPP3_ENST00000427148.2_3'UTR|ENPP3_ENST00000357639.3_Missense_Mutation_p.A259T			O14638	ENPP3_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 3	259	Phosphodiesterase.				immune response|nucleoside triphosphate catabolic process|phosphate metabolic process	extracellular region|integral to plasma membrane|perinuclear region of cytoplasm	metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity			NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)		GTGGCTGACAGCAATGTATCA	0.388													11	40					0	0	1	0	0	A	131996232	G	A	131996232	3	1	267	1	0	0	0	0	1	0	0	0	5159	971	34	2	809	2	ENPP3	6	131996232	Missense_Mutation	SNP	G	TCGA-HT-7689-01A-11D-2253-08	57642055	131996232	39118835	28	27822											
REPS1	85021	broad.mit.edu	37	6	139266690	139266690	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr6:139266690delT	ENST00000450536.2	-	3	996	c.422delA	c.(421-423)aagfs	p.K141fs	REPS1_ENST00000258062.5_Frame_Shift_Del_p.K141fs|REPS1_ENST00000367663.4_Frame_Shift_Del_p.K141fs|REPS1_ENST00000415951.2_Frame_Shift_Del_p.K141fs|REPS1_ENST00000409812.2_Frame_Shift_Del_p.K141fs			Q96D71	REPS1_HUMAN	RALBP1 associated Eps domain containing 1	141						coated pit|plasma membrane	calcium ion binding|SH3 domain binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	19				GBM - Glioblastoma multiforme(68;0.000434)|OV - Ovarian serous cystadenocarcinoma(155;0.000548)		TACGGATCCCTTTTTCACTTG	0.478													8	327	---	---	---	---						-	139266690	T	-	139266690	7	5	267	1	0	1	0	1	0	0	0	0	13280	1609	56	0	2040	0	REPS1	6	139266690	Frame_Shift_Del	DEL	T	TCGA-HT-7689-01A-11D-2253-08	7270458	139266690	31848377	29	27823											
TBP	6908	broad.mit.edu	37	6	170871043	170871043	+	Silent	SNP	G	G	A			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr6:170871043G>A	ENST00000392092.2	+	3	498	c.219G>A	c.(217-219)caG>caA	p.Q73Q	TBP_ENST00000540980.1_Silent_p.Q53Q|TBP_ENST00000230354.6_Silent_p.Q73Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	73	Poly-Gln.				cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction	transcription factor TFIIA complex|transcription factor TFIID complex	repressing transcription factor binding|transcription regulatory region DNA binding	p.Q73Q(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		agcagcaacagcaacagcagc	0.562													3	17					0	0	1	0	0	A	170871043	G	A	170871043	2	1	267	1	0	0	0	0	0	0	0	1	15704	962	34	2		2	TBP	6	170871043	Silent	SNP	G	TCGA-HT-7689-01A-11D-2253-08	31604353	170871043	244024	30	27824											
SFRP4	6424	broad.mit.edu	37	7	37955897	37955897	+	Silent	SNP	G	G	A			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr7:37955897G>A	ENST00000436072.2	-	1	620	c.243C>T	c.(241-243)taC>taT	p.Y81Y	EPDR1_ENST00000476620.1_Intron	NM_003014.3	NP_003005.2	Q6FHJ7	SFRP4_HUMAN	secreted frizzled-related protein 4	81	FZ.				brain development|cell differentiation|decidualization|embryo development|epithelium development|gonad development|mammary gland involution|menstrual cycle phase|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell proliferation|negative regulation of JNK cascade|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of sodium-dependent phosphate transport|phosphate ion homeostasis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epidermal cell differentiation|positive regulation of gene expression|positive regulation of receptor internalization|vasculature development|Wnt receptor signaling pathway	cell surface|cytoplasm|extracellular space|nucleus	PDZ domain binding|Wnt receptor activity|Wnt-protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						AAATGGGCGCGTACATGGCAC	0.622													3	53					0	0	1	0	0	A	37955897	G	A	37955897	2	1	267	1	0	0	0	0	0	0	0	1	14217	1140	40	1		1	SFRP4	7	37955897	Silent	SNP	G	TCGA-HT-7689-01A-11D-2253-08		37955897	121182766	31	27825											
ABCA13	154664	broad.mit.edu	37	7	48313892	48313892	+	Missense_Mutation	SNP	T	T	G			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr7:48313892T>G	ENST00000435803.1	+	17	4653	c.4629T>G	c.(4627-4629)atT>atG	p.I1543M		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	1543					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TTCAAAATATTTGGCTTCATT	0.299													6	56					0	0	1	0	0	G	48313892	T	G	48313892	3	3	267	1	0	0	0	0	1	0	0	0	31	1829	64	5	4524	5	ABCA13	7	48313892	Missense_Mutation	SNP	T	TCGA-HT-7689-01A-11D-2253-08	10357995	48313892	110824771	32	27826											
PTPRZ1	5803	broad.mit.edu	37	7	121679632	121679635	+	Frame_Shift_Del	DEL	AAAT	AAAT	-			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr7:121679632_121679635delAAAT	ENST00000393386.2	+	20	6038_6041	c.5627_5630delAAAT	c.(5626-5631)aaaatafs	p.KI1876fs	PTPRZ1_ENST00000449182.1_Frame_Shift_Del_p.KI1009fs	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	1876	Tyrosine-protein phosphatase 1.				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						AGAAACACAAAAATAAAAAAGGTG	0.382													8	45	---	---	---	---						-	121679635	AAAT	-	121679632	7	5	267	1	0	1	0	1	0	0	0	0	12866	14	1	0	5705	0	PTPRZ1	7	121679632	Frame_Shift_Del	DEL	AAAT	TCGA-HT-7689-01A-11D-2253-08	73365740	121679632	37459031	33	27827											
ANK1	286	broad.mit.edu	37	8	41552258	41552258	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr8:41552258G>A	ENST00000396942.1	-	28	3262	c.3179C>T	c.(3178-3180)cCg>cTg	p.P1060L	ANK1_ENST00000265709.8_Missense_Mutation_p.P1101L|ANK1_ENST00000379758.2_Missense_Mutation_p.P1060L|ANK1_ENST00000289734.7_Missense_Mutation_p.P1060L|ANK1_ENST00000347528.4_Missense_Mutation_p.P1060L|ANK1_ENST00000352337.4_Missense_Mutation_p.P1060L|ANK1_ENST00000396945.1_Missense_Mutation_p.P1060L			P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	1060					axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			GAAGTACAGCGGGAAGTCGGT	0.602													12	66					0	0	1	0	0	A	41552258	G	A	41552258	3	1	267	1	0	0	0	0	1	0	0	0	616	1116	39	1	2852	1	ANK1	8	41552258	Missense_Mutation	SNP	G	TCGA-HT-7689-01A-11D-2253-08		41552258	104811764	34	27828											
ZNF484	83744	broad.mit.edu	37	9	95610656	95610656	+	Missense_Mutation	SNP	C	C	T	rs139334933		TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr9:95610656C>T	ENST00000395505.2	-	3	397	c.305G>A	c.(304-306)cGt>cAt	p.R102H	ZNF484_ENST00000395506.3_Missense_Mutation_p.R140H|ZNF484_ENST00000332591.6_Missense_Mutation_p.R102H|ZNF484_ENST00000375495.3_Missense_Mutation_p.R138H|ANKRD19P_ENST00000473204.1_RNA	NM_001261459.1|NM_001261460.1	NP_001248388.1|NP_001248389.1	Q5JVG2	ZN484_HUMAN	zinc finger protein 484	138					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|kidney(8)|large_intestine(10)|lung(10)|prostate(2)	33						GAAGACAACACGACTTAAAGG	0.368													41	60					0	0	1	0	0	T	95610656	C	T	95610656	3	4	267	1	0	0	0	0	1	0	0	0	17994	536	19	1	2149	1	ZNF484	9	95610656	Missense_Mutation	SNP	C	TCGA-HT-7689-01A-11D-2253-08		95610656	45602775	35	27829											
LAMC3	10319	broad.mit.edu	37	9	133932363	133932363	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr9:133932363C>T	ENST00000361069.4	+	12	2120	c.1987C>T	c.(1987-1989)Ctt>Ttt	p.L663F	LAMC3_ENST00000480883.1_Intron	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	663	Laminin IV type A.				cell adhesion	basement membrane|membrane	structural molecule activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		CCGGCCAGGGCTTTCCCCGCC	0.607													18	126					0	0	1	0	0	T	133932363	C	T	133932363	3	4	267	1	0	0	0	0	1	0	0	0	8655	797	28	2	2033	2	LAMC3	9	133932363	Missense_Mutation	SNP	C	TCGA-HT-7689-01A-11D-2253-08	38321707	133932363	7281068	36	27830											
NRAP	4892	broad.mit.edu	37	10	115380449	115380449	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr10:115380449C>T	ENST00000369358.4	-	25	3056	c.2812G>A	c.(2812-2814)Gtg>Atg	p.V938M	NRAP_ENST00000369360.3_Missense_Mutation_p.V903M|NRAP_ENST00000359988.3_Missense_Mutation_p.V930M|NRAP_ENST00000360478.3_Missense_Mutation_p.V895M			Q86VF7	NRAP_HUMAN	nebulin-related anchoring protein	930						fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		ATCCACTTCACATCTGCCCTG	0.478													28	165					0	0	1	0	0	T	115380449	C	T	115380449	3	4	267	1	0	0	0	0	1	0	0	0	10686	478	17	2	2476	2	NRAP	10	115380449	Missense_Mutation	SNP	C	TCGA-HT-7689-01A-11D-2253-08		115380449	20154298	37	27831											
DMBT1	1755	broad.mit.edu	37	10	124389482	124389482	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr10:124389482G>A	ENST00000368909.3	+	44	5514	c.5408G>A	c.(5407-5409)cGc>cAc	p.R1803H	DMBT1_ENST00000359586.6_Missense_Mutation_p.R523H|DMBT1_ENST00000330163.4_Missense_Mutation_p.R1175H|DMBT1_ENST00000368955.3_Missense_Mutation_p.R1793H|DMBT1_ENST00000344338.3_Missense_Mutation_p.R1793H|DMBT1_ENST00000338354.3_Missense_Mutation_p.R1803H|DMBT1_ENST00000368956.2_Missense_Mutation_p.R1175H	NM_007329.2	NP_015568.2	Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	1803	CUB 1.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				TCTGGTTATCGCATAAACCTG	0.473													5	142					0	0	1	0	0	A	124389482	G	A	124389482	3	1	267	1	0	0	0	0	1	0	0	0	4605	1087	38	1	5582	1	DMBT1	10	124389482	Missense_Mutation	SNP	G	TCGA-HT-7689-01A-11D-2253-08	9009033	124389482	11145265	38	27832											
OR4A16	81327	broad.mit.edu	37	11	55110739	55110740	+	Frame_Shift_Ins	INS	-	-	A	rs77509752		TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr11:55110739_55110740insA	ENST00000314721.2	+	1	113_114	c.63_64insA	c.(64-66)aaafs	p.K22fs		NM_001005274.1	NP_001005274.1	Q8NH70	O4A16_HUMAN	olfactory receptor, family 4, subfamily A, member 16	22					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V21V(1)		NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						ATCCTGATGTGAAAAAAACATT	0.416													18	62	---	---	---	---						A	55110740	-	A	55110739	7	5	267	1	0	1	1	0	0	0	0	0	11089	1277	45	0	65	0	OR4A16	11	55110739	Frame_Shift_Ins	INS	-	TCGA-HT-7689-01A-11D-2253-08		55110739	79895777	39	27833											
MPEG1	219972	broad.mit.edu	37	11	58979065	58979065	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr11:58979065A>G	ENST00000361050.3	-	1	1359	c.1274T>C	c.(1273-1275)aTc>aCc	p.I425T		NM_001039396.1	NP_001034485.1	Q2M385	MPEG1_HUMAN	macrophage expressed 1	425						integral to membrane				NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(21)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		all_epithelial(135;0.125)				CTCCTCGTGGATCTGGGATAA	0.537													3	97					0	0	1	0	0	G	58979065	A	G	58979065	3	3	267	1	0	0	0	0	1	0	0	0	9772	333	12	3	880	3	MPEG1	11	58979065	Missense_Mutation	SNP	A	TCGA-HT-7689-01A-11D-2253-08	3868326	58979065	76027451	40	27834											
AHNAK	79026	broad.mit.edu	37	11	62290017	62290017	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr11:62290017T>C	ENST00000378024.4	-	5	12146	c.11872A>G	c.(11872-11874)Aag>Gag	p.K3958E	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	3958					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				AGGTCAGCCTTGGGCAGGTTC	0.498													6	412					0	0	1	0	0	C	62290017	T	C	62290017	3	2	267	1	0	0	0	0	1	0	0	0	411	1821	63	3	5920	3	AHNAK	11	62290017	Missense_Mutation	SNP	T	TCGA-HT-7689-01A-11D-2253-08	3310952	62290017	72716499	41	27835											
SHANK2	22941	broad.mit.edu	37	11	70333471	70333471	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr11:70333471T>C	ENST00000338508.4	-	32	2929	c.2930A>G	c.(2929-2931)aAc>aGc	p.N977S	SHANK2_ENST00000449833.2_Missense_Mutation_p.N381S|SHANK2_ENST00000409161.1_Missense_Mutation_p.N380S|SHANK2_ENST00000423696.2_Missense_Mutation_p.N597S			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	597					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			GTTGCGGAAGTTGGCTTGCGG	0.592													5	170					0	0	1	0	0	C	70333471	T	C	70333471	3	2	267	1	0	0	0	0	1	0	0	0	14320	1725	60	3	2630	3	SHANK2	11	70333471	Missense_Mutation	SNP	T	TCGA-HT-7689-01A-11D-2253-08	8043454	70333471	64673045	42	27836											
NUMA1	4926	broad.mit.edu	37	11	71726290	71726290	+	Silent	SNP	T	T	C			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr11:71726290T>C	ENST00000393695.3	-	15	2590	c.2259A>G	c.(2257-2259)gaA>gaG	p.E753E	RP11-849H4.4_ENST00000502284.1_RNA|NUMA1_ENST00000351960.6_Intron|NUMA1_ENST00000358965.6_Silent_p.E753E	NM_006185.2	NP_006176.2	Q14980	NUMA1_HUMAN	nuclear mitotic apparatus protein 1	753					G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						GCTCCTTTCGTTCCCGCTTAT	0.612			T	RARA	APL								3	94					0	0	1	0	0	C	71726290	T	C	71726290	2	2	267	1	0	0	0	0	0	0	0	1	10798	1722	60	3		3	NUMA1	11	71726290	Silent	SNP	T	TCGA-HT-7689-01A-11D-2253-08	1392819	71726290	63280226	43	27837											
EXPH5	23086	broad.mit.edu	37	11	108380864	108380864	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr11:108380864G>T	ENST00000265843.4	-	6	5480	c.5370C>A	c.(5368-5370)caC>caA	p.H1790Q	EXPH5_ENST00000428840.1_Missense_Mutation_p.H1714Q|EXPH5_ENST00000525344.1_Missense_Mutation_p.H1783Q|EXPH5_ENST00000443411.1_Missense_Mutation_p.H1602Q	NM_015065.2	NP_055880	Q149M6	Q149M6_HUMAN	exophilin 5	1790					intracellular protein transport		Rab GTPase binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		AACGATAGAGGTGTGGCTCAG	0.463													13	123					2.48551e-13	2.62673e-13	1	1	0	T	108380864	G	T	108380864	3	4	267	1	0	0	0	0	1	0	0	0	5350	1252	44	5	603	5	EXPH5	11	108380864	Missense_Mutation	SNP	G	TCGA-HT-7689-01A-11D-2253-08	36654574	108380864	26625652	44	27838											
ARHGEF12	23365	broad.mit.edu	37	11	120355176	120355176	+	Silent	SNP	C	C	T			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr11:120355176C>T	ENST00000397843.2	+	40	4750	c.4584C>T	c.(4582-4584)tgC>tgT	p.C1528C	ARHGEF12_ENST00000356641.3_Silent_p.C1509C|ARHGEF12_ENST00000532993.1_Silent_p.C1425C	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	1528					apoptosis|axon guidance|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		CCATTCTTTGCCAAAGGCTGG	0.378			T	MLL	AML								5	92					0	0	1	0	0	T	120355176	C	T	120355176	2	4	267	1	0	0	0	0	0	0	0	1	894	747	26	2		2	ARHGEF12	11	120355176	Silent	SNP	C	TCGA-HT-7689-01A-11D-2253-08	11974312	120355176	14651340	45	27839											
PYROXD1	79912	broad.mit.edu	37	12	21615672	21615672	+	Splice_Site	SNP	A	A	G			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr12:21615672A>G	ENST00000538582.1	+	10	1533		c.e10-1		PYROXD1_ENST00000240651.9_Splice_Site			Q8WU10	PYRD1_HUMAN	pyridine nucleotide-disulphide oxidoreductase domain 1								oxidoreductase activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|soft_tissue(1)	18						AATGTTGTTTAGTTTGATCTA	0.373													20	70					0	0	1	0	0	G	21615672	A	G	21615672	5	3	267	1	0	0	0	0	0	0	1	0	12918	434	15	3	1030	3	PYROXD1	12	21615672	Splice_Site	SNP	A	TCGA-HT-7689-01A-11D-2253-08		21615672	112236223	46	27840											
KIF21A	55605	broad.mit.edu	37	12	39761740	39761740	+	Missense_Mutation	SNP	G	G	C			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr12:39761740G>C	ENST00000395670.3	-	4	964	c.545C>G	c.(544-546)aCt>aGt	p.T182S	KIF21A_ENST00000361961.3_Missense_Mutation_p.T182S|KIF21A_ENST00000541463.2_Missense_Mutation_p.T182S|KIF21A_ENST00000544797.2_Missense_Mutation_p.T182S|KIF21A_ENST00000361418.5_Missense_Mutation_p.T182S			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	182	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				AATTCCTCCAGTTGAATCTTC	0.313													17	171					0	0	1	0	0	C	39761740	G	C	39761740	3	2	267	1	0	0	0	0	1	0	0	0	8330	1029	36	4	4619	4	KIF21A	12	39761740	Missense_Mutation	SNP	G	TCGA-HT-7689-01A-11D-2253-08	18146068	39761740	94090155	47	27841											
CSRP2	1466	broad.mit.edu	37	12	77253345	77253347	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr12:77253345_77253347delCTT	ENST00000311083.5	-	5	608_610	c.485_487delAAG	c.(484-489)gaaggt>ggt	p.E162del	CSRP2_ENST00000547435.1_In_Frame_Del_p.E162del|CSRP2_ENST00000552330.1_In_Frame_Del_p.E212del|CSRP2_ENST00000546966.1_In_Frame_Del_p.E162del	NM_001321.1	NP_001312.1	Q16527	CSRP2_HUMAN	cysteine and glycine-rich protein 2	162	LIM zinc-binding 2.				multicellular organismal development	nucleus	zinc ion binding			kidney(1)|large_intestine(4)|ovary(1)|prostate(1)|skin(1)	8						TAGATTTCACCTTCTTTTTCAGT	0.374													9	25	---	---	---	---						-	77253347	CTT	-	77253345	7	5	267	1	0	1	0	1	0	0	0	0	3992	681	24	0	102	0	CSRP2	12	77253345	In_Frame_Del	DEL	CTT	TCGA-HT-7689-01A-11D-2253-08	37491605	77253345	56598550	48	27842											
RILPL1	353116	broad.mit.edu	37	12	123983204	123983204	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr12:123983204C>T	ENST00000376874.4	-	4	923	c.688G>A	c.(688-690)Gag>Aag	p.E230K	RILPL1_ENST00000340724.6_Missense_Mutation_p.E78K	NM_178314.3	NP_847884.2	Q5EBL4	RIPL1_HUMAN	Rab interacting lysosomal protein-like 1	230					neuroprotection	cytosol				endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.00067)|all cancers(50;0.00836)|BRCA - Breast invasive adenocarcinoma(302;0.197)		AGGTCTGCCTCCAGCTCCACC	0.627													34	141					0	0	1	0	0	T	123983204	C	T	123983204	3	4	267	1	0	0	0	0	1	0	0	0	13411	864	30	2	539	2	RILPL1	12	123983204	Missense_Mutation	SNP	C	TCGA-HT-7689-01A-11D-2253-08	46729859	123983204	9868691	49	27843											
FUT8	2530	broad.mit.edu	37	14	66028460	66028460	+	Nonsense_Mutation	SNP	T	T	A			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr14:66028460T>A	ENST00000360689.5	+	3	1906	c.179T>A	c.(178-180)tTg>tAg	p.L60*	FUT8_ENST00000358307.2_Intron|FUT8_ENST00000557164.1_Intron|FUT8_ENST00000394586.2_Nonsense_Mutation_p.L60*|FUT8_ENST00000394585.1_Nonsense_Mutation_p.L60*	NM_004480.4|NM_178155.2	NP_004471.4|NP_835368.1	Q9BYC5	FUT8_HUMAN	fucosyltransferase 8 (alpha (1,6) fucosyltransferase)	60					in utero embryonic development|L-fucose catabolic process|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein glycosylation in Golgi|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	glycoprotein 6-alpha-L-fucosyltransferase activity|SH3 domain binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	22				all cancers(60;0.00109)|OV - Ovarian serous cystadenocarcinoma(108;0.00242)|BRCA - Breast invasive adenocarcinoma(234;0.0114)		AATGAAGACTTGAGGCGAATG	0.428													3	48					0	0	1	0	0	A	66028460	T	A	66028460	4	1	267	1	0	0	0	0	0	1	0	0	6145	1821	63	5	181	5	FUT8	14	66028460	Nonsense_Mutation	SNP	T	TCGA-HT-7689-01A-11D-2253-08		66028460	41321080	50	27844											
KCNK13	56659	broad.mit.edu	37	14	90650849	90650849	+	Silent	SNP	G	G	A			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr14:90650849G>A	ENST00000282146.4	+	2	1170	c.729G>A	c.(727-729)ctG>ctA	p.L243L		NM_022054.2	NP_071337.2	Q9HB14	KCNKD_HUMAN	potassium channel, subfamily K, member 13	243						integral to membrane	potassium channel activity|voltage-gated ion channel activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(12)|prostate(1)|skin(4)	25		all_cancers(154;0.186)				TTGGGGACCTGGTCAGCAGCC	0.532													19	33					0	0	1	0	0	A	90650849	G	A	90650849	2	1	267	1	0	0	0	0	0	0	0	1	8105	1335	47	2		2	KCNK13	14	90650849	Silent	SNP	G	TCGA-HT-7689-01A-11D-2253-08	24622389	90650849	16698691	51	27845											
DMXL2	23312	broad.mit.edu	37	15	51766595	51766595	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr15:51766595C>T	ENST00000251076.5	-	28	7443	c.7156G>A	c.(7156-7158)Gga>Aga	p.G2386R	RP11-707P17.1_ENST00000561007.1_RNA|DMXL2_ENST00000543779.2_Missense_Mutation_p.G2387R|DMXL2_ENST00000449909.3_Missense_Mutation_p.G1750R	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	2386						cell junction|synaptic vesicle membrane	Rab GTPase binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		ACACCGCCTCCAAAAACAGCA	0.368													8	87					0	0	1	0	0	T	51766595	C	T	51766595	3	4	267	1	0	0	0	0	1	0	0	0	4623	603	21	2	2018	2	DMXL2	15	51766595	Missense_Mutation	SNP	C	TCGA-HT-7689-01A-11D-2253-08		51766595	50764797	52	27846											
TLN2	83660	broad.mit.edu	37	15	63042617	63042617	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr15:63042617T>C	ENST00000561311.1	+	33	4366	c.4136T>C	c.(4135-4137)tTg>tCg	p.L1379S	TLN2_ENST00000306829.6_Missense_Mutation_p.L1379S			Q9Y4G6	TLN2_HUMAN	talin 2	1379					cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						AAGGGGATGTTGGACAATCCT	0.403													3	127					0	0	1	0	0	C	63042617	T	C	63042617	3	2	267	1	0	0	0	0	1	0	0	0	16008	1821	63	3	4258	3	TLN2	15	63042617	Missense_Mutation	SNP	T	TCGA-HT-7689-01A-11D-2253-08	11276022	63042617	39488775	53	27847											
MTFMT	123263	broad.mit.edu	37	15	65312542	65312542	+	Silent	SNP	C	C	T			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr15:65312542C>T	ENST00000220058.4	-	5	727	c.714G>A	c.(712-714)gcG>gcA	p.A238A		NM_139242.3	NP_640335.2	Q96DP5	FMT_HUMAN	mitochondrial methionyl-tRNA formyltransferase	238						mitochondrion	methionyl-tRNA formyltransferase activity|methyltransferase activity			endometrium(1)|large_intestine(3)|lung(3)|ovary(3)	10					Tetrahydrofolic acid(DB00116)	CACCGTAAGTCGCCCCCTCCA	0.413													4	24					0	0	1	0	0	T	65312542	C	T	65312542	2	4	267	1	0	0	0	0	0	0	0	1	9972	871	31	1		1	MTFMT	15	65312542	Silent	SNP	C	TCGA-HT-7689-01A-11D-2253-08	2269925	65312542	37218850	54	27848											
SRCAP	10847	broad.mit.edu	37	16	30732740	30732740	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr16:30732740C>G	ENST00000262518.4	+	21	3869	c.3484C>G	c.(3484-3486)Ccg>Gcg	p.P1162A	SRCAP_ENST00000395059.2_Missense_Mutation_p.P1162A|SRCAP_ENST00000344771.4_Intron	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	1162	Pro-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			AGTGCCAGCTCCGACTCCTGC	0.612													32	80					0	0	1	0	0	G	30732740	C	G	30732740	3	3	267	1	0	0	0	0	1	0	0	0	15191	855	30	5	3558	5	SRCAP	16	30732740	Missense_Mutation	SNP	C	TCGA-HT-7689-01A-11D-2253-08		30732740	59622013	55	27849											
SRCAP	10847	broad.mit.edu	37	16	30734516	30734516	+	Silent	SNP	C	C	G			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr16:30734516C>G	ENST00000262518.4	+	24	4510	c.4125C>G	c.(4123-4125)ctC>ctG	p.L1375L	SRCAP_ENST00000395059.2_Silent_p.L1313L|SRCAP_ENST00000344771.4_Silent_p.L1217L	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	1375	Pro-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity	p.L1375L(1)		NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			GGCCTCTTCTCAAGCTGGTCC	0.602													70	164					0	0	1	0	0	G	30734516	C	G	30734516	2	3	267	1	0	0	0	0	0	0	0	1	15191	813	29	5		5	SRCAP	16	30734516	Silent	SNP	C	TCGA-HT-7689-01A-11D-2253-08	1776	30734516	59620237	56	27850											
C16orf46	123775	broad.mit.edu	37	16	81094882	81094882	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr16:81094882C>T	ENST00000378611.4	-	3	1187	c.1072G>A	c.(1072-1074)Gcc>Acc	p.A358T	C16orf46_ENST00000299578.5_Missense_Mutation_p.A358T|RP11-303E16.8_ENST00000564536.1_RNA	NM_001100873.1	NP_001094343.1	Q6P387	CP046_HUMAN	chromosome 16 open reading frame 46	358										NS(1)|endometrium(2)|large_intestine(3)|lung(9)|prostate(1)|stomach(1)|urinary_tract(1)	18						TCCTGCTTGGCCTTTGGGAGA	0.498													12	113					0	0	1	0	0	T	81094882	C	T	81094882	3	4	267	1	0	0	0	0	1	0	0	0	1822	739	26	2	147	2	C16orf46	16	81094882	Missense_Mutation	SNP	C	TCGA-HT-7689-01A-11D-2253-08	50360366	81094882	9259871	57	27851											
ANKRD11	29123	broad.mit.edu	37	16	89351844	89351844	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr16:89351844T>C	ENST00000301030.4	-	9	1566	c.1106A>G	c.(1105-1107)aAg>aGg	p.K369R	ANKRD11_ENST00000378330.2_Missense_Mutation_p.K369R	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	369						nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		TCTGTAGTCCTTTTTCAATAG	0.453													3	141					0	0	1	0	0	C	89351844	T	C	89351844	3	2	267	1	0	0	0	0	1	0	0	0	635	1609	56	3	6905	3	ANKRD11	16	89351844	Missense_Mutation	SNP	T	TCGA-HT-7689-01A-11D-2253-08	8256962	89351844	1002909	58	27852											
PITPNM3	83394	broad.mit.edu	37	17	6381927	6381927	+	Silent	SNP	T	T	A			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr17:6381927T>A	ENST00000262483.8	-	7	804	c.717A>T	c.(715-717)cgA>cgT	p.R239R	PITPNM3_ENST00000421306.3_Silent_p.R203R	NM_031220.3	NP_112497.2	Q9BZ71	PITM3_HUMAN	PITPNM family member 3						phosphatidylinositol metabolic process	endomembrane system|integral to membrane	calcium ion binding|lipid binding|phosphatidylinositol transporter activity|receptor tyrosine kinase binding			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(3)|skin(2)	36				Colorectal(2;0.000372)|READ - Rectum adenocarcinoma(2;0.0276)|LUAD - Lung adenocarcinoma(2;0.0836)|COAD - Colon adenocarcinoma(228;0.185)		CCTGGTTGGCTCGCTCGATGA	0.632													10	50					0	0	1	0	0	A	6381927	T	A	6381927	2	1	267	1	0	0	0	0	0	0	0	1	12000	1538	54	5		5	PITPNM3	17	6381927	Silent	SNP	T	TCGA-HT-7689-01A-11D-2253-08		6381927	74813283	59	27853											
TP53	7157	broad.mit.edu	37	17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	rs121913343		TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr17:7577121G>A	ENST00000420246.2	-	8	949	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000413465.2_Intron|TP53_ENST00000269305.4_Missense_Mutation_p.R273C|TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000359597.4_Missense_Mutation_p.R273C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	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).		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.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			18	9					0	0	1	0	0	A	7577121	G	A	7577121	3	1	267	1	0	0	0	0	1	0	0	0	16442	1087	38	1	469	1	TP53	17	7577121	Missense_Mutation	SNP	G	TCGA-HT-7689-01A-11D-2253-08	1195194	7577121	73618089	60	27854											
MPRIP	23164	broad.mit.edu	37	17	16979036	16979036	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr17:16979036T>C	ENST00000395811.5	+	2	225	c.136T>C	c.(136-138)Tat>Cat	p.Y46H	MPRIP_ENST00000341712.4_Missense_Mutation_p.Y46H|MPRIP_ENST00000395804.3_Missense_Mutation_p.Y46H|MPRIP_ENST00000444976.1_Missense_Mutation_p.Y46H|MPRIP_ENST00000395807.2_3'UTR	NM_015134.3|NM_201274.3	NP_055949.2|NP_958431.2	Q6WCQ1	MPRIP_HUMAN	myosin phosphatase Rho interacting protein	46	Interaction with F-actin (By similarity).|PH 1.					cytoplasm|cytoskeleton	actin binding			biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						AAAACCCATTTATGGCGGTTG	0.547													5	121					0	0	1	0	0	C	16979036	T	C	16979036	3	2	267	1	0	0	0	0	1	0	0	0	9792	1754	61	3	142	3	MPRIP	17	16979036	Missense_Mutation	SNP	T	TCGA-HT-7689-01A-11D-2253-08	9401915	16979036	64216174	61	27855											
SGSH	6448	broad.mit.edu	37	17	78184761	78184761	+	Silent	SNP	G	G	A	rs149139346	byFrequency	TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr17:78184761G>A	ENST00000326317.6	-	8	1085	c.999C>T	c.(997-999)taC>taT	p.Y333Y	SGSH_ENST00000534910.1_Silent_p.Y130Y	NM_000199.3	NP_000190.1	P51688	SPHM_HUMAN	N-sulfoglucosamine sulfohydrolase	333					proteoglycan metabolic process	lysosome	metal ion binding|N-sulfoglucosamine sulfohydrolase activity|sulfuric ester hydrolase activity			central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			CAAAGATGGCGTAGCTGGGGT	0.652													4	80					0	0	1	0	0	A	78184761	G	A	78184761	2	1	267	1	0	0	0	0	0	0	0	1	14275	1140	40	1		1	SGSH	17	78184761	Silent	SNP	G	TCGA-HT-7689-01A-11D-2253-08	61205725	78184761	3010449	62	27856											
MUC16	94025	broad.mit.edu	37	19	9087885	9087885	+	Silent	SNP	A	A	G			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr19:9087885A>G	ENST00000397910.4	-	1	4133	c.3930T>C	c.(3928-3930)ccT>ccC	p.P1310P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1310	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TAGTCTCTCCAGGAGCTGTCA	0.507													4	62					0	0	1	0	0	G	9087885	A	G	9087885	2	3	267	1	0	0	0	0	0	0	0	1	10021	175	7	3		3	MUC16	19	9087885	Silent	SNP	A	TCGA-HT-7689-01A-11D-2253-08		9087885	50041098	63	27857											
MUC16	94025	broad.mit.edu	37	19	9089322	9089322	+	Silent	SNP	C	C	T			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr19:9089322C>T	ENST00000397910.4	-	1	2696	c.2493G>A	c.(2491-2493)tcG>tcA	p.S831S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	831	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GACTCTCTGACGATTCTGAAG	0.498													40	217					0	0	1	0	0	T	9089322	C	T	9089322	2	4	267	1	0	0	0	0	0	0	0	1	10021	523	19	1		1	MUC16	19	9089322	Silent	SNP	C	TCGA-HT-7689-01A-11D-2253-08	1437	9089322	50039661	64	27858											
DOCK6	57572	broad.mit.edu	37	19	11347158	11347158	+	Silent	SNP	G	G	A			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr19:11347158G>A	ENST00000294618.7	-	20	2267	c.2256C>T	c.(2254-2256)aaC>aaT	p.N752N	DOCK6_ENST00000319867.7_Silent_p.N56N	NM_020812.3	NP_065863.2	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	752	DHR-1.				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						CCTGCTCCACGTTGCCCTCGC	0.647													3	9					0	0	1	0	0	A	11347158	G	A	11347158	2	1	267	1	0	0	0	0	0	0	0	1	4718	1136	40	1		1	DOCK6	19	11347158	Silent	SNP	G	TCGA-HT-7689-01A-11D-2253-08	2257836	11347158	47781825	65	27859											
GRAMD1A	57655	broad.mit.edu	37	19	35502409	35502409	+	Translation_Start_Site	SNP	G	G	A			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr19:35502409G>A	ENST00000504615.2	+	0	713				GRAMD1A_ENST00000317991.5_Missense_Mutation_p.R186H|GRAMD1A_ENST00000411896.2_Missense_Mutation_p.R179H|GRAMD1A_ENST00000599564.1_Missense_Mutation_p.R273H			Q96CP6	GRM1A_HUMAN	GRAM domain containing 1A							integral to membrane				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	19	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			GCCCGTGACCGCTGCTTCCTC	0.617													4	185					0	0	1	0	0	A	35502409	G	A	35502409	1	1	267	1	0	0	0	0	0	0	0	0	6788	1087	38	1		1	GRAMD1A	19	35502409	Translation_Start_Site	SNP	G	TCGA-HT-7689-01A-11D-2253-08	24155251	35502409	23626574	66	27860											
JAG1	182	broad.mit.edu	37	20	10624439	10624439	+	Silent	SNP	G	G	A			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr20:10624439G>A	ENST00000254958.5	-	20	2960	c.2445C>T	c.(2443-2445)ccC>ccT	p.P815P	JAG1_ENST00000423891.2_Silent_p.P656P	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN	jagged 1	815	EGF-like 15; calcium-binding (Potential).				angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation	extracellular region|integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding|structural molecule activity			biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						TTCTGCAGTCGGGCCCAGCAA	0.498									Alagille Syndrome				19	39					0	0	1	0	0	A	10624439	G	A	10624439	2	1	267	1	0	0	0	0	0	0	0	1	7978	1103	39	1		1	JAG1	20	10624439	Silent	SNP	G	TCGA-HT-7689-01A-11D-2253-08		10624439	52401081	67	27861											
SPTLC3	55304	broad.mit.edu	37	20	13134724	13134724	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr20:13134724A>G	ENST00000399002.2	+	10	1628	c.1354A>G	c.(1354-1356)Atc>Gtc	p.I452V	SPTLC3_ENST00000378194.4_3'UTR	NM_018327.2	NP_060797.2	Q9NUV7	SPTC3_HUMAN	serine palmitoyltransferase, long chain base subunit 3	452					sphingoid biosynthetic process	integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups			breast(1)|endometrium(1)|large_intestine(7)|lung(14)|skin(1)|urinary_tract(1)	25					Pyridoxal Phosphate(DB00114)	GGGATTCATTATCTATGGCAA	0.428													7	54					0	0	1	0	0	G	13134724	A	G	13134724	3	3	267	1	0	0	0	0	1	0	0	0	15181	449	16	3	1392	3	SPTLC3	20	13134724	Missense_Mutation	SNP	A	TCGA-HT-7689-01A-11D-2253-08	2510285	13134724	49890796	68	27862											
SEL1L2	80343	broad.mit.edu	37	20	13912352	13912352	+	Silent	SNP	T	T	G			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr20:13912352T>G	ENST00000284951.5	-	3	254	c.180A>C	c.(178-180)gtA>gtC	p.V60V	SEL1L2_ENST00000486903.1_5'UTR|SEL1L2_ENST00000378072.5_Silent_p.V60V			Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 (C. elegans)	60						integral to membrane	binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						TTTTATTGATTACATTACTAG	0.274													3	34					0	0	1	0	0	G	13912352	T	G	13912352	2	3	267	1	0	0	0	0	0	0	0	1	14065	1741	61	5		5	SEL1L2	20	13912352	Silent	SNP	T	TCGA-HT-7689-01A-11D-2253-08	777628	13912352	49113168	69	27863											
GEMIN8	54960	broad.mit.edu	37	X	14027048	14027048	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chrX:14027048A>G	ENST00000380523.4	-	5	1031	c.713T>C	c.(712-714)aTc>aCc	p.I238T	GEMIN8_ENST00000398355.3_Missense_Mutation_p.I238T	NM_017856.2	NP_060326.1	Q9NWZ8	GEMI8_HUMAN	gem (nuclear organelle) associated protein 8	238					spliceosomal snRNP assembly	Cajal body|cytoplasm|SMN complex|spliceosomal complex	protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	9						CTTCAGGGGGATGACCGGCCA	0.552													3	101					0	0	1	0	0	G	14027048	A	G	14027048	3	3	267	1	0	0	0	0	1	0	0	0	6376	333	12	3	19	3	GEMIN8	23	14027048	Missense_Mutation	SNP	A	TCGA-HT-7689-01A-11D-2253-08		14027048	141243512	70	27864											
GDPD2	54857	broad.mit.edu	37	X	69652260	69652260	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chrX:69652260G>A	ENST00000453994.2	+	14	1925	c.1564G>A	c.(1564-1566)Gac>Aac	p.D522N	GDPD2_ENST00000536730.1_Missense_Mutation_p.D392N|GDPD2_ENST00000472623.1_3'UTR|GDPD2_ENST00000538649.1_Missense_Mutation_p.D392N|GDPD2_ENST00000374382.3_Missense_Mutation_p.D471N	NM_001171192.1	NP_001164663.1	Q9HCC8	GDPD2_HUMAN	glycerophosphodiester phosphodiesterase domain containing 2	471					glycerol metabolic process|lipid metabolic process	cytoplasm|cytoskeleton|integral to membrane|plasma membrane	glycerophosphodiester phosphodiesterase activity|glycerophosphoinositol inositolphosphodiesterase activity|metal ion binding			NS(1)|breast(1)|cervix(1)|endometrium(6)|large_intestine(8)|lung(3)|ovary(2)	22	Renal(35;0.156)					CACCACCAACGACTGCCAGCT	0.512													49	106					0	0	1	0	0	A	69652260	G	A	69652260	3	1	267	1	0	0	0	0	1	0	0	0	6366	1058	37	1	1614	1	GDPD2	23	69652260	Missense_Mutation	SNP	G	TCGA-HT-7689-01A-11D-2253-08	55625212	69652260	85618300	71	27865											
DLG3	1741	broad.mit.edu	37	X	69717042	69717042	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chrX:69717042C>G	ENST00000194900.4	+	15	2227	c.1886C>G	c.(1885-1887)tCc>tGc	p.S629C	DLG3_ENST00000374360.3_Intron|DLG3_ENST00000374355.3_Missense_Mutation_p.S292C|DLG3_ENST00000542398.1_Missense_Mutation_p.S146C|DLG3_ENST00000461646.1_3'UTR			Q92796	DLG3_HUMAN	discs, large homolog 3 (Drosophila)	606	Guanylate kinase-like.				axon guidance|negative regulation of cell proliferation|synaptic transmission	plasma membrane	guanylate kinase activity	p.S292C(1)		endometrium(4)|kidney(1)|large_intestine(10)|lung(5)|pancreas(1)|urinary_tract(1)	22	Renal(35;0.156)					GGAGTGACATCCAACACCAGT	0.498													4	111					0	0	1	0	0	G	69717042	C	G	69717042	3	3	267	1	0	0	0	0	1	0	0	0	4584	855	30	5	2128	5	DLG3	23	69717042	Missense_Mutation	SNP	C	TCGA-HT-7689-01A-11D-2253-08	64782	69717042	85553518	72	27866											
ATRX	546	broad.mit.edu	37	X	76939638	76939639	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chrX:76939638_76939639insT	ENST00000373344.5	-	9	1323_1324	c.1109_1110insA	c.(1108-1110)tatfs	p.Y370fs	ATRX_ENST00000395603.3_Frame_Shift_Ins_p.Y332fs|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	370					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)	AAAATTTAACATAACTGGAGTT	0.371			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						64	130	---	---	---	---						T	76939639	-	T	76939638	7	5	267	1	0	1	1	0	0	0	0	0	1206	224	8	0	6476	0	ATRX	23	76939638	Frame_Shift_Ins	INS	-	TCGA-HT-7689-01A-11D-2253-08	7222596	76939638	78330922	73	27867											
MCTS1	28985	broad.mit.edu	37	X	119739938	119739938	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chrX:119739938G>A	ENST00000371315.3	+	3	705	c.172G>A	c.(172-174)Gaa>Aaa	p.E58K	MCTS1_ENST00000371317.5_Missense_Mutation_p.E57K|MCTS1_ENST00000487133.1_3'UTR	NM_001137554.1	NP_001131026.1	Q9ULC4	MCTS1_HUMAN	malignant T cell amplified sequence 1	57					cell cycle|positive regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm	RNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|stomach(1)|urinary_tract(1)	10						TTACAGCCATGAACATATAGA	0.299													4	50					0	0	1	0	0	A	119739938	G	A	119739938	3	1	267	1	0	0	0	0	1	0	0	0	9452	1291	45	2	197	2	MCTS1	23	119739938	Missense_Mutation	SNP	G	TCGA-HT-7689-01A-11D-2253-08	42800300	119739938	35530622	74	27868											
GRIA3	2892	broad.mit.edu	37	X	122538740	122538740	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chrX:122538740G>A	ENST00000264357.5	+	10	1767	c.1475G>A	c.(1474-1476)gGc>gAc	p.G492D	GRIA3_ENST00000371256.5_Missense_Mutation_p.G492D|GRIA3_ENST00000541091.1_Missense_Mutation_p.G476D|GRIA3_ENST00000371251.1_Missense_Mutation_p.G492D|GRIA3_ENST00000542149.1_Missense_Mutation_p.G492D	NM_000828.4	NP_000819	P42263	GRIA3_HUMAN	glutamate receptor, ionotropic, AMPA 3	492					glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					L-Glutamic Acid(DB00142)	ATATGGAACGGCATGGTTGGG	0.378													31	242					0	0	1	0	0	A	122538740	G	A	122538740	3	1	267	1	0	0	0	0	1	0	0	0	6810	1203	42	2	1513	2	GRIA3	23	122538740	Missense_Mutation	SNP	G	TCGA-HT-7689-01A-11D-2253-08	2798802	122538740	32731820	75	27869											
DCAF12L2	340578	broad.mit.edu	37	X	125299120	125299120	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chrX:125299120C>T	ENST00000538699.1	-	2	868	c.788G>A	c.(787-789)cGc>cAc	p.R263H	DCAF12L2_ENST00000360028.2_Missense_Mutation_p.R263H	NM_001013628.2	NP_001013650.1	Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	263										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						CCGTACCTTGCGGTTGCTGGG	0.637													5	54					0	0	1	0	0	T	125299120	C	T	125299120	3	4	267	1	0	0	0	0	1	0	0	0	4289	768	27	1	607	1	DCAF12L2	23	125299120	Missense_Mutation	SNP	C	TCGA-HT-7689-01A-11D-2253-08	2760380	125299120	29971440	76	27870											
SLITRK2	84631	broad.mit.edu	37	X	144904329	144904329	+	Missense_Mutation	SNP	C	C	A			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chrX:144904329C>A	ENST00000370490.1	+	1	4641	c.386C>A	c.(385-387)aCc>aAc	p.T129N	SLITRK2_ENST00000447897.2_Missense_Mutation_p.T129N|SLITRK2_ENST00000428560.2_Missense_Mutation_p.T129N|SLITRK2_ENST00000434188.2_Missense_Mutation_p.T129N|SLITRK2_ENST00000413937.2_Missense_Mutation_p.T129N			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	129						integral to membrane				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					AGGGAGGACACCTTCCTAGGC	0.502													4	58					0.00909568	0.00939887	1	1	0	A	144904329	C	A	144904329	3	1	267	1	0	0	0	0	1	0	0	0	14797	507	18	5	388	5	SLITRK2	23	144904329	Missense_Mutation	SNP	C	TCGA-HT-7689-01A-11D-2253-08	19605209	144904329	10366231	77	27871											
AFF2	2334	broad.mit.edu	37	X	148048318	148048318	+	Splice_Site	SNP	A	A	C			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chrX:148048318A>C	ENST00000370460.2	+	14	3392		c.e14-1		AFF2_ENST00000286437.5_Splice_Site|AFF2_ENST00000342251.3_Splice_Site|AFF2_ENST00000370457.5_Splice_Site	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2						brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					CCTTTTTCCCAGGAGGGAGAC	0.443													5	155					0	0	1	0	0	C	148048318	A	C	148048318	5	2	267	1	0	0	0	0	0	0	1	0	356	202	7	5	3021	5	AFF2	23	148048318	Splice_Site	SNP	A	TCGA-HT-7689-01A-11D-2253-08	3143989	148048318	7222242	78	27872											
GABRA3	2556	broad.mit.edu	37	X	151336862	151336862	+	Silent	SNP	C	C	T			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chrX:151336862C>T	ENST00000370314.4	-	10	1555	c.1317G>A	c.(1315-1317)gtG>gtA	p.V439V	RP11-329E24.6_ENST00000453915.1_RNA|GABRA3_ENST00000535043.1_Silent_p.V439V	NM_000808.3	NP_000799.1	P34903	GBRA3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 3	439					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(6)	37	Acute lymphoblastic leukemia(192;6.56e-05)				Alprazolam(DB00404)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	GGCTGTCCTGCACGTAGGTGG	0.522													80	203					0	0	1	0	0	T	151336862	C	T	151336862	2	4	267	1	0	0	0	0	0	0	0	1	6197	697	25	2		2	GABRA3	23	151336862	Silent	SNP	C	TCGA-HT-7689-01A-11D-2253-08	3288544	151336862	3933698	79	27873											
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	0.532													91	115					0	0	1	0	0	A	26371545	G	A	26371545	3	1	268	1	0	0	0	0	1	0	0	0	14610	1087	38	1	932	1	SLC30A2	1	26371545	Missense_Mutation	SNP	G	TCGA-HT-7690-01A-11D-2253-08		26371545	222879076	1	27874											
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	0.498			"N, F, Mis"		"marginal zone lymphoma, DLBCL"				Alagille Syndrome				10	111					0	0	1	0	0	T	120510154	C	T	120510154	3	4	268	1	0	0	0	0	1	0	0	0	10595	536	19	1	6168	1	NOTCH2	1	120510154	Missense_Mutation	SNP	C	TCGA-HT-7690-01A-11D-2253-08	94138609	120510154	128740467	2	27875											
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	0.483													21	40					0	0	1	0	0	A	168550354	G	A	168550354	3	1	268	1	0	0	0	0	1	0	0	0	17483	1261	44	2	251	2	XCL1	1	168550354	Missense_Mutation	SNP	G	TCGA-HT-7690-01A-11D-2253-08	48040200	168550354	80700267	3	27876											
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_ENST00000344441.6_Missense_Mutation_p.R1499H|MIA3_ENST00000344507.1_Intron|MIA3_ENST00000340535.7_Missense_Mutation_p.R377H	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	0.448													3	72					0	0	1	0	0	A	222828024	G	A	222828024	3	1	268	1	0	0	0	0	1	0	0	0	9614	1087	38	1	4566	1	MIA3	1	222828024	Missense_Mutation	SNP	G	TCGA-HT-7690-01A-11D-2253-08	54277670	222828024	26422597	4	27877											
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	0.498													4	132					0	0	1	0	0	A	201524011	G	A	201524011	3	1	268	1	0	0	0	0	1	0	0	0	725	1029	36	2	3405	2	AOX1	2	201524011	Missense_Mutation	SNP	G	TCGA-HT-7690-01A-11D-2253-08		201524011	41675362	5	27878											
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	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								34	61					0	0	1	0	0	T	209113112	C	T	209113112	3	4	268	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HT-7690-01A-11D-2253-08	7589101	209113112	34086261	6	27879											
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_ENST00000264903.4_Missense_Mutation_p.A202T|CNOT6L_ENST00000506166.1_Intron			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	0.393													13	13					0	0	1	0	0	T	78665985	C	T	78665985	3	4	268	1	0	0	0	0	1	0	0	0	3646	768	27	1	1087	1	CNOT6L	4	78665985	Missense_Mutation	SNP	C	TCGA-HT-7690-01A-11D-2253-08		78665985	112488291	7	27880											
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	0.498													43	48					2.61675e-31	2.85464e-31	1	1	0	T	159344767	G	T	159344767	3	4	268	1	0	0	0	0	1	0	0	0	334	1020	36	4	857	4	ADRA1B	5	159344767	Missense_Mutation	SNP	G	TCGA-HT-7690-01A-11D-2253-08		159344767	21570493	8	27881											
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.7349A>G	c.(7348-7350)aAg>aGg	p.K2450R	PKHD1_ENST00000340994.4_Splice_Site_p.K2450R	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	0.388													12	19					0	0	1	0	0	C	51747892	T	C	51747892	5	2	268	1	0	0	0	0	0	0	1	0	12019	1623	56	3	5002	3	PKHD1	6	51747892	Splice_Site	SNP	T	TCGA-HT-7690-01A-11D-2253-08		51747892	119367175	9	27882											
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	0.567													14	12					0	0	1	0	0	C	142658506	A	C	142658506	3	2	268	1	0	0	0	0	1	0	0	0	8185	131	5	5	2102	5	KEL	7	142658506	Missense_Mutation	SNP	A	TCGA-HT-7690-01A-11D-2253-08		142658506	16480157	10	27883											
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	0.438													4	56					0	0	1	0	0	T	73848875	C	T	73848875	3	4	268	1	0	0	0	0	1	0	0	0	8057	536	19	1	1291	1	KCNB2	8	73848875	Missense_Mutation	SNP	C	TCGA-HT-7690-01A-11D-2253-08		73848875	72515147	11	27884											
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	0.682													3	20					0	0	1	0	0	A	144946590	G	A	144946590	3	1	268	1	0	0	0	0	1	0	0	0	5218	1086	38	1	6434	1	EPPK1	8	144946590	Missense_Mutation	SNP	G	TCGA-HT-7690-01A-11D-2253-08	71097715	144946590	1417432	12	27885											
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_ENST00000371070.4_Missense_Mutation_p.R357H|SLIT1_ENST00000371041.3_Missense_Mutation_p.R357H|ARHGAP19-SLIT1_ENST00000453547.2_3'UTR	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	0.622													19	53					0	0	1	0	0	T	98819232	C	T	98819232	3	4	268	1	0	0	0	0	1	0	0	0	14793	768	27	1	3642	1	SLIT1	10	98819232	Missense_Mutation	SNP	C	TCGA-HT-7690-01A-11D-2253-08		98819232	36715515	13	27886											
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	0.687													3	40					0	0	1	0	0	A	64601218	G	A	64601218	3	1	268	1	0	0	0	0	1	0	0	0	3096	1087	38	1	2162	1	CDC42BPG	11	64601218	Missense_Mutation	SNP	G	TCGA-HT-7690-01A-11D-2253-08		64601218	70405298	14	27887											
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_ENST00000394748.1_Silent_p.S1120S|ABCC11_ENST00000353782.5_Silent_p.S1120S|ABCC11_ENST00000356608.2_Silent_p.S1120S|ABCC11_ENST00000565329.1_5'UTR	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	0.483													14	27					0	0	1	0	0	T	48211013	C	T	48211013	2	4	268	1	0	0	0	0	0	0	0	1	51	639	23	1		1	ABCC11	16	48211013	Silent	SNP	C	TCGA-HT-7690-01A-11D-2253-08		48211013	42143740	15	27888											
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_ENST00000359597.4_Missense_Mutation_p.Y236C|TP53_ENST00000455263.2_Missense_Mutation_p.Y236C|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000413465.2_Missense_Mutation_p.Y236C|TP53_ENST00000445888.2_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	0.572		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	C	7577574	T	C	7577574	3	2	268	1	0	0	0	0	1	0	0	0	16442	1638	57	3	583	3	TP53	17	7577574	Missense_Mutation	SNP	T	TCGA-HT-7690-01A-11D-2253-08		7577574	73617636	16	27889											
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	0.363													3	64					0	0	1	0	0	T	29631309	A	T	29631309	3	4	268	1	0	0	0	0	1	0	0	0	5316	188	7	5	31	5	EVI2B	17	29631309	Missense_Mutation	SNP	A	TCGA-HT-7690-01A-11D-2253-08	22053735	29631309	51563901	17	27890											
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)ccaaactcggatcctgctgaccta>cta	p.PNSDPAD185del	SLFN11_ENST00000308377.4_In_Frame_Del_p.PNSDPAD185del	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	---	---	---	---						-	33690273	GGTCAGCAGGATCCGAGTTTG	-	33690253	7	5	268	1	0	1	0	1	0	0	0	0	14788	991	35	0	2147	0	SLFN11	17	33690253	In_Frame_Del	DEL	GGTCAGCAGGATCCGAGTTTG	TCGA-HT-7690-01A-11D-2253-08	4058944	33690253	47504957	18	27891											
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_ENST00000577625.1_Nonsense_Mutation_p.R392*|RNF43_ENST00000407977.2_Nonsense_Mutation_p.R519*|RNF43_ENST00000500597.2_Nonsense_Mutation_p.R478*|RNF43_ENST00000581868.1_Nonsense_Mutation_p.R392*|RNF43_ENST00000577716.1_Nonsense_Mutation_p.R519*|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	0.592													62	72					0	0	1	0	0	A	56435582	G	A	56435582	4	1	268	1	0	0	0	0	0	1	0	0	13547	1095	38	1	804	1	RNF43	17	56435582	Nonsense_Mutation	SNP	G	TCGA-HT-7690-01A-11D-2253-08	22745329	56435582	24759628	19	27892											
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_ENST00000456609.2_Silent_p.Y29Y|MARCH10_ENST00000583600.1_Silent_p.Y29Y|MARCH10_ENST00000311269.5_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	0.428													19	137					0	0	1	0	0	G	60879010	A	G	60879010	2	3	268	1	0	0	0	0	0	0	0	1	9349	340	12	3		3	MARCH10	17	60879010	Silent	SNP	A	TCGA-HT-7690-01A-11D-2253-08	4443428	60879010	20316200	20	27893											
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_ENST00000395045.2_Missense_Mutation_p.F274V|MATK_ENST00000395040.2_Missense_Mutation_p.F232V|MATK_ENST00000585778.1_Missense_Mutation_p.F273V	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	0.687													43	63					0	0	1	0	0	C	3779721	A	C	3779721	3	2	268	1	0	0	0	0	1	0	0	0	9382	72	3	5	730	5	MATK	19	3779721	Missense_Mutation	SNP	A	TCGA-HT-7690-01A-11D-2253-08		3779721	55349262	21	27894											
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_ENST00000359935.4_Missense_Mutation_p.A315T|AC007292.3_ENST00000593524.1_RNA|MPND_ENST00000262966.8_Missense_Mutation_p.A365T			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	0.672													3	48					0	0	1	0	0	A	4357346	G	A	4357346	3	1	268	1	0	0	0	0	1	0	0	0	9780	1087	38	1	1127	1	MPND	19	4357346	Missense_Mutation	SNP	G	TCGA-HT-7690-01A-11D-2253-08	577625	4357346	54771637	22	27895											
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)gtgfs	p.V435fs	TBC1D17_ENST00000535102.2_Frame_Shift_Del_p.V402fs	NM_024682.2	NP_078958	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	---	---	---	---						-	50387777	G	-	50387777	7	5	268	1	0	1	0	1	0	0	0	0	15663	1335	47	0	1351	0	TBC1D17	19	50387777	Frame_Shift_Del	DEL	G	TCGA-HT-7690-01A-11D-2253-08	46030431	50387777	8741206	23	27896											
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_ENST00000342634.3_Missense_Mutation_p.E455G|ZNF667_ENST00000591790.1_3'UTR|ZNF667_ENST00000292069.6_Missense_Mutation_p.E327G			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	0.373													8	119					0	0	1	0	0	C	56953384	T	C	56953384	3	2	268	1	0	0	0	0	1	0	0	0	18131	1551	54	3	856	3	ZNF667	19	56953384	Missense_Mutation	SNP	T	TCGA-HT-7690-01A-11D-2253-08	6565607	56953384	2175599	24	27897											
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	0.393													3	97					0	0	1	0	0	G	57956845	A	G	57956845	3	3	268	1	0	0	0	0	1	0	0	0	18181	63	3	3	2339	3	ZNF749	19	57956845	Missense_Mutation	SNP	A	TCGA-HT-7690-01A-11D-2253-08	1003461	57956845	1172138	25	27898											
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	0.512													29	55					0	0	1	0	0	C	43804672	G	C	43804672	3	2	268	1	0	0	0	0	1	0	0	0	11918	1087	38	5	256	5	PI3	20	43804672	Missense_Mutation	SNP	G	TCGA-HT-7690-01A-11D-2253-08		43804672	19220848	26	27899											
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)cacfs	p.H430fs	MAPK8IP2_ENST00000329492.3_Frame_Shift_Del_p.H695fs|MAPK8IP2_ENST00000341339.4_Frame_Shift_Del_p.H316fs|MAPK8IP2_ENST00000008876.5_Frame_Shift_Del_p.H401fs|MAPK8IP2_ENST00000442429.2_Frame_Shift_Del_p.H418fs|MAPK8IP2_ENST00000399912.1_Frame_Shift_Del_p.H430fs	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	---	---	---	---						-	51044326	C	-	51044326	7	5	268	1	0	1	0	1	0	0	0	0	9335	506	18	0	2207	0	MAPK8IP2	22	51044326	Frame_Shift_Del	DEL	C	TCGA-HT-7690-01A-11D-2253-08		51044326	260240	27	27900											
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_000480.3	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	0.363			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						44	9					0	0	1	0	0	C	76849221	T	C	76849221	3	2	268	1	0	0	0	0	1	0	0	0	1206	1792	62	3	1463	3	ATRX	23	76849221	Missense_Mutation	SNP	T	TCGA-HT-7690-01A-11D-2253-08		76849221	78421339	28	27901											
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_ENST00000524145.1_Missense_Mutation_p.R1039L|AMOT_ENST00000304758.1_Missense_Mutation_p.R630L|AMOT_ENST00000371962.1_Missense_Mutation_p.R807L	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	0.488													4	125					1	1	1	1	0	A	112022266	C	A	112022266	3	1	268	1	0	0	0	0	1	0	0	0	578	536	19	5	146	5	AMOT	23	112022266	Missense_Mutation	SNP	C	TCGA-HT-7690-01A-11D-2253-08	35173045	112022266	43248294	29	27902											
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_ENST00000359686.2_Silent_p.K672K|ATP11C_ENST00000370543.1_Silent_p.K672K|ATP11C_ENST00000327569.3_Silent_p.K672K|ATP11C_ENST00000361648.2_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	0.483													5	46					0	0	1	0	0	C	138857058	T	C	138857058	2	2	268	1	0	0	0	0	0	0	0	1	1120	1606	56	3		3	ATP11C	23	138857058	Silent	SNP	T	TCGA-HT-7690-01A-11D-2253-08	26834792	138857058	16413502	30	27903											
SLC6A17	388662	broad.mit.edu	37	1	110740737	110740737	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7691-01A-11D-2253-08	TCGA-HT-7691-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efd30f39-5200-4c80-957d-a4f3898dd711	2891bd1f-d811-43da-b76f-60eb95191d34	g.chr1:110740737G>A	ENST00000331565.4	+	12	2340	c.1855G>A	c.(1855-1857)Gca>Aca	p.A619T		NM_001010898.2	NP_001010898.1	Q9H1V8	S6A17_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 17	619					alanine transport|glycine transport|leucine transport|proline transport	cell junction|integral to plasma membrane|synaptic vesicle membrane	neurotransmitter:sodium symporter activity			breast(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37		all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151)		CTGGGCCATGGCACTCCTGAT	0.657													3	32					0	0	1	0	0	A	110740737	G	A	110740737	3	1	269	1	0	0	0	0	1	0	0	0	14735	1203	42	2	1897	2	SLC6A17	1	110740737	Missense_Mutation	SNP	G	TCGA-HT-7691-01A-11D-2253-08		110740737	138509884	1	27904											
FLNB	2317	broad.mit.edu	37	3	58149024	58149024	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7691-01A-11D-2253-08	TCGA-HT-7691-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efd30f39-5200-4c80-957d-a4f3898dd711	2891bd1f-d811-43da-b76f-60eb95191d34	g.chr3:58149024G>A	ENST00000295956.4	+	43	7330	c.7165G>A	c.(7165-7167)Gcc>Acc	p.A2389T	FLNB-AS1_ENST00000488720.1_RNA|FLNB_ENST00000348383.5_Missense_Mutation_p.A2348T|FLNB_ENST00000493452.1_Missense_Mutation_p.A2196T|FLNB_ENST00000358537.3_Missense_Mutation_p.A2365T|FLNB_ENST00000357272.4_3'UTR|FLNB_ENST00000419752.2_Missense_Mutation_p.A2209T|FLNB_ENST00000429972.2_Missense_Mutation_p.A2378T|FLNB_ENST00000490882.1_Missense_Mutation_p.A2420T	NM_001457.3	NP_001448.2	O75369	FLNB_HUMAN	filamin B, beta	2389	Interaction with INPPL1.				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding	p.A2389T(1)		NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		CCTGGTGTCCGCCTATGGCAC	0.582													3	66					0	0	1	0	0	A	58149024	G	A	58149024	3	1	269	1	0	0	0	0	1	0	0	0	5967	1087	38	1	7432	1	FLNB	3	58149024	Missense_Mutation	SNP	G	TCGA-HT-7691-01A-11D-2253-08		58149024	139873406	2	27905											
PCDHB10	56126	broad.mit.edu	37	5	140572688	140572688	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-7691-01A-11D-2253-08	TCGA-HT-7691-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efd30f39-5200-4c80-957d-a4f3898dd711	2891bd1f-d811-43da-b76f-60eb95191d34	g.chr5:140572688G>T	ENST00000239446.4	+	1	747	c.563G>T	c.(562-564)gGc>gTc	p.G188V		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN		188	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGTGATGAAGGCATGATATAT	0.498													53	137					3.10202e-16	3.47426e-16	1	1	0	T	140572688	G	T	140572688	3	4	269	1	0	0	0	0	1	0	0	0	11582	1203	42	5	565	5	PCDHB10	5	140572688	Missense_Mutation	SNP	G	TCGA-HT-7691-01A-11D-2253-08		140572688	40342572	3	27906											
KLC4	89953	broad.mit.edu	37	6	43042382	43042382	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7691-01A-11D-2253-08	TCGA-HT-7691-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efd30f39-5200-4c80-957d-a4f3898dd711	2891bd1f-d811-43da-b76f-60eb95191d34	g.chr6:43042382G>A	ENST00000394056.2	+	17	2327	c.1832G>A	c.(1831-1833)aGc>aAc	p.S611N	KLC4_ENST00000259708.3_Missense_Mutation_p.S629N|KLC4_ENST00000453940.2_Missense_Mutation_p.S534N|KLC4_ENST00000479388.1_Missense_Mutation_p.S611N|RP11-387M24.5_ENST00000606123.1_RNA|KLC4_ENST00000347162.5_Missense_Mutation_p.S611N|KLC4_ENST00000394058.1_Missense_Mutation_p.S611N			Q9NSK0	KLC4_HUMAN	kinesin light chain 4	611						cytoplasm|kinesin complex|microtubule	microtubule motor activity|protein binding			endometrium(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(4)	23			all cancers(41;0.00169)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0376)|KIRC - Kidney renal clear cell carcinoma(2;0.0453)			CTCAGTGCCAGCACCATGGAC	0.617													3	84					0	0	1	0	0	A	43042382	G	A	43042382	3	1	269	1	0	0	0	0	1	0	0	0	8379	971	34	2	2017	2	KLC4	6	43042382	Missense_Mutation	SNP	G	TCGA-HT-7691-01A-11D-2253-08		43042382	128072685	4	27907											
TAF5	6877	broad.mit.edu	37	10	105145230	105145230	+	Silent	SNP	C	C	T	rs145434074		TCGA-HT-7691-01A-11D-2253-08	TCGA-HT-7691-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efd30f39-5200-4c80-957d-a4f3898dd711	2891bd1f-d811-43da-b76f-60eb95191d34	g.chr10:105145230C>T	ENST00000369839.3	+	8	1835	c.1812C>T	c.(1810-1812)ggC>ggT	p.G604G	TAF5_ENST00000351396.4_Intron	NM_006951.3	NP_008882.2	Q15542	TAF5_HUMAN	TAF5 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 100kDa	604					histone acetylation|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	actin cytoskeleton|transcription factor TFIID complex|transcription factor TFTC complex	protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)	15		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;1.83e-09)|all cancers(201;1.4e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198)		TGTCAGGGGGCCATGACCGAG	0.413													3	36					0	0	1	0	0	T	105145230	C	T	105145230	2	4	269	1	0	0	0	0	0	0	0	1	15585	726	26	2		2	TAF5	10	105145230	Silent	SNP	C	TCGA-HT-7691-01A-11D-2253-08		105145230	30389517	5	27908											
MTL5	9633	broad.mit.edu	37	11	68517872	68517872	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HT-7691-01A-11D-2253-08	TCGA-HT-7691-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efd30f39-5200-4c80-957d-a4f3898dd711	2891bd1f-d811-43da-b76f-60eb95191d34	g.chr11:68517872delC	ENST00000443940.2	-	2	343	c.257delG	c.(256-258)ggcfs	p.G86fs	MTL5_ENST00000255087.5_Frame_Shift_Del_p.G86fs|MTL5_ENST00000544963.1_Frame_Shift_Del_p.G86fs			Q9Y4I5	MTL5_HUMAN	metallothionein-like 5, testis-specific (tesmin)	86					cell differentiation|cellular metal ion homeostasis|multicellular organismal development|response to metal ion|spermatogenesis	cytoplasm|nucleus|soluble fraction	metal ion binding			breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	15	Esophageal squamous(3;4.37e-12)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.185)			GTCGCTGTCGCCCCCCGCGAG	0.751													2	4	---	---	---	---						-	68517872	C	-	68517872	7	5	269	1	0	1	0	1	0	0	0	0	9984	739	26	0	1309	0	MTL5	11	68517872	Frame_Shift_Del	DEL	C	TCGA-HT-7691-01A-11D-2253-08		68517872	66488644	6	27909											
RELT	84957	broad.mit.edu	37	11	73101914	73101914	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7691-01A-11D-2253-08	TCGA-HT-7691-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efd30f39-5200-4c80-957d-a4f3898dd711	2891bd1f-d811-43da-b76f-60eb95191d34	g.chr11:73101914G>A	ENST00000064780.2	+	4	496	c.235G>A	c.(235-237)Gcc>Acc	p.A79T	RELT_ENST00000393580.2_Missense_Mutation_p.A79T	NM_152222.1	NP_689408.1	Q969Z4	TR19L_HUMAN	RELT tumor necrosis factor receptor	79						cytoplasm|integral to membrane|plasma membrane	binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	12						GAGGCTGGAGGCCCAGGTGGG	0.652													3	74					0	0	1	0	0	A	73101914	G	A	73101914	3	1	269	1	0	0	0	0	1	0	0	0	13273	1203	42	2	245	2	RELT	11	73101914	Missense_Mutation	SNP	G	TCGA-HT-7691-01A-11D-2253-08	4584042	73101914	61904602	7	27910											
B4GALNT1	2583	broad.mit.edu	37	12	58025769	58025769	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HT-7691-01A-11D-2253-08	TCGA-HT-7691-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efd30f39-5200-4c80-957d-a4f3898dd711	2891bd1f-d811-43da-b76f-60eb95191d34	g.chr12:58025769delG	ENST00000341156.4	-	2	731	c.147delC	c.(145-147)cccfs	p.P49fs	B4GALNT1_ENST00000552350.1_Frame_Shift_Del_p.P49fs|B4GALNT1_ENST00000449184.3_Frame_Shift_Del_p.P49fs|B4GALNT1_ENST00000550764.1_Frame_Shift_Del_p.P49fs|B4GALNT1_ENST00000550943.1_5'UTR|B4GALNT1_ENST00000418555.2_Frame_Shift_Del_p.P49fs	NM_001478.3	NP_001469.1	Q00973	B4GN1_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 1	49					lipid glycosylation	integral to Golgi membrane|membrane fraction	(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|urinary_tract(1)	20	Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			CTGGCAGCTCGGGCCTGCGGG	0.726													2	4	---	---	---	---						-	58025769	G	-	58025769	7	5	269	1	0	1	0	1	0	0	0	0	1264	1103	39	0	1494	0	B4GALNT1	12	58025769	Frame_Shift_Del	DEL	G	TCGA-HT-7691-01A-11D-2253-08		58025769	75826126	8	27911											
SACS	26278	broad.mit.edu	37	13	23908606	23908606	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7691-01A-11D-2253-08	TCGA-HT-7691-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efd30f39-5200-4c80-957d-a4f3898dd711	2891bd1f-d811-43da-b76f-60eb95191d34	g.chr13:23908606C>T	ENST00000382298.3	-	10	9997	c.9409G>A	c.(9409-9411)Gat>Aat	p.D3137N	SACS_ENST00000402364.1_Missense_Mutation_p.D2387N|SACS_ENST00000382292.3_Missense_Mutation_p.D3137N	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	3137					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		AAACAATAATCAACTAAAAGT	0.373													11	19					0	0	1	0	0	T	23908606	C	T	23908606	3	4	269	1	0	0	0	0	1	0	0	0	13856	826	29	2	4334	2	SACS	13	23908606	Missense_Mutation	SNP	C	TCGA-HT-7691-01A-11D-2253-08		23908606	91261272	9	27912											
HCN4	10021	broad.mit.edu	37	15	73615170	73615170	+	Silent	SNP	C	C	T			TCGA-HT-7691-01A-11D-2253-08	TCGA-HT-7691-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efd30f39-5200-4c80-957d-a4f3898dd711	2891bd1f-d811-43da-b76f-60eb95191d34	g.chr15:73615170C>T	ENST00000261917.3	-	8	4257	c.3264G>A	c.(3262-3264)gcG>gcA	p.A1088A		NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 4	1088					blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		CTGGCTGAGACGCGGAGATGA	0.726													4	3					0	0	1	0	0	T	73615170	C	T	73615170	2	4	269	1	0	0	0	0	0	0	0	1	7040	523	19	1		1	HCN4	15	73615170	Silent	SNP	C	TCGA-HT-7691-01A-11D-2253-08		73615170	28916222	10	27913											
FBXL16	146330	broad.mit.edu	37	16	747263	747265	+	In_Frame_Del	DEL	TGG	TGG	-			TCGA-HT-7691-01A-11D-2253-08	TCGA-HT-7691-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efd30f39-5200-4c80-957d-a4f3898dd711	2891bd1f-d811-43da-b76f-60eb95191d34	g.chr16:747263_747265delTGG	ENST00000397621.1	-	2	472_474	c.141_143delCCA	c.(139-144)tgccag>tgg	p.47_48CQ>W	FBXL16_ENST00000324361.5_In_Frame_Del_p.47_48CQ>W	NM_153350.3	NP_699181.2	Q8N461	FXL16_HUMAN	F-box and leucine-rich repeat protein 16	47	Pro-rich.									endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(1)	10		Hepatocellular(780;0.0218)				GGGTGGTGGCTGGCAGGGGCGGT	0.729													2	4	---	---	---	---						-	747265	TGG	-	747263	7	5	269	1	0	1	0	1	0	0	0	0	5745	1580	55	0	1316	0	FBXL16	16	747263	In_Frame_Del	DEL	TGG	TCGA-HT-7691-01A-11D-2253-08		747263	89607490	11	27914											
CTNS	1497	broad.mit.edu	37	17	3560060	3560060	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7691-01A-11D-2253-08	TCGA-HT-7691-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efd30f39-5200-4c80-957d-a4f3898dd711	2891bd1f-d811-43da-b76f-60eb95191d34	g.chr17:3560060A>G	ENST00000046640.3	+	9	1245	c.652A>G	c.(652-654)Atc>Gtc	p.I218V	CTNS_ENST00000441220.2_Missense_Mutation_p.I110V|CTNS_ENST00000381870.3_Missense_Mutation_p.I218V|RP11-235E17.6_ENST00000575741.1_RNA|CTNS_ENST00000414524.2_Missense_Mutation_p.I71V	NM_004937.2	NP_004928.2	O60931	CTNS_HUMAN	cystinosin, lysosomal cystine transporter	218					ATP metabolic process|brain development|cognition|glutathione metabolic process	integral to membrane|late endosome|lysosomal membrane	L-cystine transmembrane transporter activity			NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)	10				COAD - Colon adenocarcinoma(5;0.0829)	L-Cystine(DB00138)	CCTCACGCTGATCATCATCGT	0.592													24	80					0	0	1	0	0	G	3560060	A	G	3560060	3	3	269	1	0	0	0	0	1	0	0	0	4045	333	12	3	678	3	CTNS	17	3560060	Missense_Mutation	SNP	A	TCGA-HT-7691-01A-11D-2253-08		3560060	77635150	12	27915											
TMC6	11322	broad.mit.edu	37	17	76120700	76120700	+	Missense_Mutation	SNP	G	G	C			TCGA-HT-7691-01A-11D-2253-08	TCGA-HT-7691-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efd30f39-5200-4c80-957d-a4f3898dd711	2891bd1f-d811-43da-b76f-60eb95191d34	g.chr17:76120700G>C	ENST00000590602.1	-	8	955	c.796C>G	c.(796-798)Ctg>Gtg	p.L266V	TMC6_ENST00000322914.3_Missense_Mutation_p.L266V|TMC6_ENST00000392467.3_Missense_Mutation_p.L266V|TMC6_ENST00000589553.1_Missense_Mutation_p.L39V|TMC6_ENST00000306591.7_Missense_Mutation_p.L266V|TMC6_ENST00000322933.4_5'UTR			Q7Z403	TMC6_HUMAN	transmembrane channel-like 6	266				L -> P (in Ref. 2; AAP69874).		endoplasmic reticulum membrane|integral to membrane				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	14			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			AAGGCCACCAGCAGCAGCAGC	0.672													2	16					0	0	1	0	0	C	76120700	G	C	76120700	3	2	269	1	0	0	0	0	1	0	0	0	16049	962	34	4	1673	4	TMC6	17	76120700	Missense_Mutation	SNP	G	TCGA-HT-7691-01A-11D-2253-08	72560640	76120700	5074510	13	27916											
IL12RB1	3594	broad.mit.edu	37	19	18183118	18183118	+	Silent	SNP	C	C	T	rs141737618		TCGA-HT-7691-01A-11D-2253-08	TCGA-HT-7691-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efd30f39-5200-4c80-957d-a4f3898dd711	2891bd1f-d811-43da-b76f-60eb95191d34	g.chr19:18183118C>T	ENST00000600835.2	-	10	1123	c.825G>A	c.(823-825)gcG>gcA	p.A275A	IL12RB1_ENST00000322153.7_Silent_p.A275A|IL12RB1_ENST00000593993.2_Silent_p.A275A			P42701	I12R1_HUMAN	interleukin 12 receptor, beta 1		Fibronectin type-III 3.				cellular response to interferon-gamma|interleukin-12-mediated signaling pathway|positive regulation of activated T cell proliferation|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response	interleukin-12 receptor complex|interleukin-23 receptor complex	cytokine receptor activity			endometrium(1)|kidney(1)|lung(3)|pancreas(1)|skin(2)	8						CCGTGCCAGGCGCCAGCCCTT	0.587													9	19					0	0	1	0	0	T	18183118	C	T	18183118	2	4	269	1	0	0	0	0	0	0	0	1	7670	755	27	1		1	IL12RB1	19	18183118	Silent	SNP	C	TCGA-HT-7691-01A-11D-2253-08		18183118	40945865	14	27917											
MCAT	27349	broad.mit.edu	37	22	43529209	43529209	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7691-01A-11D-2253-08	TCGA-HT-7691-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efd30f39-5200-4c80-957d-a4f3898dd711	2891bd1f-d811-43da-b76f-60eb95191d34	g.chr22:43529209T>C	ENST00000290429.6	-	4	1058	c.1013A>G	c.(1012-1014)aAg>aGg	p.K338R	MCAT_ENST00000327555.5_3'UTR	NM_173467.4	NP_775738.3	Q8IVS2	FABD_HUMAN	malonyl CoA:ACP acyltransferase (mitochondrial)						fatty acid biosynthetic process	mitochondrion	[acyl-carrier-protein] S-malonyltransferase activity|binding			breast(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(1)|urinary_tract(1)	11		Ovarian(80;0.0694)				CCCCCTGCCCTTTTTCCTTTC	0.587													4	223					0	0	1	0	0	C	43529209	T	C	43529209	3	2	269	1	0	0	0	0	1	0	0	0	9422	1609	56	3	163	3	MCAT	22	43529209	Missense_Mutation	SNP	T	TCGA-HT-7691-01A-11D-2253-08		43529209	7775357	15	27918											
FOXR2	139628	broad.mit.edu	37	X	55650390	55650390	+	Silent	SNP	G	G	A			TCGA-HT-7691-01A-11D-2253-08	TCGA-HT-7691-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efd30f39-5200-4c80-957d-a4f3898dd711	2891bd1f-d811-43da-b76f-60eb95191d34	g.chrX:55650390G>A	ENST00000339140.3	+	1	558	c.246G>A	c.(244-246)gtG>gtA	p.V82V		NM_198451.3	NP_940853.1	Q6PJQ5	FOXR2_HUMAN	forkhead box R2	82					embryo development|organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	19						GGATGTGGGTGGACCCCAATA	0.552													3	58					0	0	1	0	0	A	55650390	G	A	55650390	2	1	269	1	0	0	0	0	0	0	0	1	6066	1335	47	2		2	FOXR2	23	55650390	Silent	SNP	G	TCGA-HT-7691-01A-11D-2253-08		55650390	99620170	16	27919											
BRWD3	254065	broad.mit.edu	37	X	79932312	79932312	+	Silent	SNP	G	G	A			TCGA-HT-7691-01A-11D-2253-08	TCGA-HT-7691-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efd30f39-5200-4c80-957d-a4f3898dd711	2891bd1f-d811-43da-b76f-60eb95191d34	g.chrX:79932312G>A	ENST00000373275.4	-	41	5421	c.5205C>T	c.(5203-5205)acC>acT	p.T1735T		NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	1735										breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						CTGAAAACATGGTATCAAATT	0.443													5	86					0	0	1	0	0	A	79932312	G	A	79932312	2	1	269	1	0	0	0	0	0	0	0	1	1528	1335	47	2		2	BRWD3	23	79932312	Silent	SNP	G	TCGA-HT-7691-01A-11D-2253-08	24281922	79932312	75338248	17	27920											
NES	10763	broad.mit.edu	37	1	156642351	156642351	+	Silent	SNP	T	T	C			TCGA-HT-7692-01A-12D-2253-08	TCGA-HT-7692-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaa6dbfa-6641-4162-a34d-6718781793bc	4a5299fe-a61f-4e0d-9e89-bc7874cff10e	g.chr1:156642351T>C	ENST00000368223.3	-	4	1761	c.1629A>G	c.(1627-1629)aaA>aaG	p.K543K		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	543	Tail.				brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TCAGGGTTTCTTTTTCCAAAG	0.468													5	38					0	0	1	0	0	C	156642351	T	C	156642351	2	2	270	1	0	0	0	0	0	0	0	1	10384	1606	56	3		3	NES	1	156642351	Silent	SNP	T	TCGA-HT-7692-01A-12D-2253-08		156642351	92608270	1	27921											
HMCN1	83872	broad.mit.edu	37	1	185964003	185964003	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-7692-01A-12D-2253-08	TCGA-HT-7692-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaa6dbfa-6641-4162-a34d-6718781793bc	4a5299fe-a61f-4e0d-9e89-bc7874cff10e	g.chr1:185964003G>T	ENST00000271588.4	+	24	3791	c.3562G>T	c.(3562-3564)Gtg>Ttg	p.V1188L	HMCN1_ENST00000367492.2_Missense_Mutation_p.V1188L	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	1188	Ig-like C2-type 9.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TGGTCAAAGAGTGGATATTCC	0.413													5	83					0.014758	0.014758	1	1	0	T	185964003	G	T	185964003	3	4	270	1	0	0	0	0	1	0	0	0	7261	1029	36	4	3656	4	HMCN1	1	185964003	Missense_Mutation	SNP	G	TCGA-HT-7692-01A-12D-2253-08	29321652	185964003	63286618	2	27922											
OR2C3	81472	broad.mit.edu	37	1	247695072	247695072	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7692-01A-12D-2253-08	TCGA-HT-7692-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaa6dbfa-6641-4162-a34d-6718781793bc	4a5299fe-a61f-4e0d-9e89-bc7874cff10e	g.chr1:247695072C>T	ENST00000366487.3	-	2	1103	c.742G>A	c.(742-744)Gtg>Atg	p.V248M	GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000366490.3_Intron|GCSAML_ENST00000531662.1_Intron|GCSAML_ENST00000527084.1_Intron|GCSAML_ENST00000366491.2_Intron|GCSAML_ENST00000463359.1_Intron|GCSAML_ENST00000366489.1_Intron	NM_198074.4	NP_932340	Q8N628	OR2C3_HUMAN	olfactory receptor, family 2, subfamily C, member 3	248					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2)	43	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;0.0242)	OV - Ovarian serous cystadenocarcinoma(106;0.0241)			AGAGACACCACAGCCACGTGG	0.542													39	78					0	0	1	0	0	T	247695072	C	T	247695072	3	4	270	1	0	0	0	0	1	0	0	0	11041	478	17	2	224	2	OR2C3	1	247695072	Missense_Mutation	SNP	C	TCGA-HT-7692-01A-12D-2253-08	61731069	247695072	1555549	3	27923											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-HT-7692-01A-12D-2253-08	TCGA-HT-7692-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaa6dbfa-6641-4162-a34d-6718781793bc	4a5299fe-a61f-4e0d-9e89-bc7874cff10e	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	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								16	52					0	0	1	0	0	T	209113112	C	T	209113112	3	4	270	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HT-7692-01A-12D-2253-08		209113112	34086261	4	27924											
PTX3	5806	broad.mit.edu	37	3	157154729	157154731	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-HT-7692-01A-12D-2253-08	TCGA-HT-7692-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaa6dbfa-6641-4162-a34d-6718781793bc	4a5299fe-a61f-4e0d-9e89-bc7874cff10e	g.chr3:157154729_157154731delCTC	ENST00000295927.3	+	1	152_154	c.7_9delCTC	c.(7-9)ctcdel	p.L4del	VEPH1_ENST00000392833.2_Intron|VEPH1_ENST00000543418.1_Intron|VEPH1_ENST00000392832.2_Intron|VEPH1_ENST00000362010.2_Intron	NM_002852.3	NP_002843.2	P26022	PTX3_HUMAN	pentraxin 3, long	4					inflammatory response	extracellular region				central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|stomach(1)	10			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			AGCAATGCATCTCCTTGCGATTC	0.493													64	97	---	---	---	---						-	157154731	CTC	-	157154729	7	5	270	1	0	1	0	1	0	0	0	0	12874	913	32	0	9	0	PTX3	3	157154729	In_Frame_Del	DEL	CTC	TCGA-HT-7692-01A-12D-2253-08		157154729	40867701	5	27925											
PIK3CA	5290	broad.mit.edu	37	3	178936095	178936095	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7692-01A-12D-2253-08	TCGA-HT-7692-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaa6dbfa-6641-4162-a34d-6718781793bc	4a5299fe-a61f-4e0d-9e89-bc7874cff10e	g.chr3:178936095A>G	ENST00000263967.3	+	10	1794	c.1637A>G	c.(1636-1638)cAg>cGg	p.Q546R		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	546	PI3K helical.		Q -> E (in cancer).|Q -> K (in cancer).|Q -> P (in cancer).|Q -> R (in cancer).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.Q546R(30)|p.Q546P(18)|p.Q546L(5)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			ATCACTGAGCAGGAGAAAGAT	0.363		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			13	31					0	0	1	0	0	G	178936095	A	G	178936095	3	3	270	1	0	0	0	0	1	0	0	0	11961	188	7	3	1671	3	PIK3CA	3	178936095	Missense_Mutation	SNP	A	TCGA-HT-7692-01A-12D-2253-08	21781366	178936095	19086335	6	27926											
SH3RF1	57630	broad.mit.edu	37	4	170017683	170017690	+	Frame_Shift_Del	DEL	ACAAAGCT	ACAAAGCT	-			TCGA-HT-7692-01A-12D-2253-08	TCGA-HT-7692-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaa6dbfa-6641-4162-a34d-6718781793bc	4a5299fe-a61f-4e0d-9e89-bc7874cff10e	g.chr4:170017683_170017690delACAAAGCT	ENST00000284637.9	-	12	2988_2995	c.2647_2654delAGCTTTGT	c.(2647-2655)agctttgtgfs	p.SFV883fs		NM_020870.3	NP_065921.2	Q7Z6J0	SH3R1_HUMAN	SH3 domain containing ring finger 1	883	SH3 4.					Golgi apparatus|lamellipodium|perinuclear region of cytoplasm	ligase activity|zinc ion binding			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31		Prostate(90;0.00267)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)		TATGTTTTCCACAAAGCTTCCTGGGAAA	0.389													9	77	---	---	---	---						-	170017690	ACAAAGCT	-	170017683	7	5	270	1	0	1	0	1	0	0	0	0	14313	159	6	0	16	0	SH3RF1	4	170017683	Frame_Shift_Del	DEL	ACAAAGCT	TCGA-HT-7692-01A-12D-2253-08		170017683	21136593	7	27927											
BNIP1	662	broad.mit.edu	37	5	172587005	172587005	+	Silent	SNP	G	G	A			TCGA-HT-7692-01A-12D-2253-08	TCGA-HT-7692-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaa6dbfa-6641-4162-a34d-6718781793bc	4a5299fe-a61f-4e0d-9e89-bc7874cff10e	g.chr5:172587005G>A	ENST00000231668.9	+	6	674	c.570G>A	c.(568-570)agG>agA	p.R190R	BNIP1_ENST00000351486.5_Silent_p.R147R|BNIP1_ENST00000352523.6_Silent_p.R156R|BNIP1_ENST00000393770.4_Silent_p.R113R	NM_013979.2	NP_053582.2	Q12981	SEC20_HUMAN	BCL2/adenovirus E1B 19kDa interacting protein 1	147					anti-apoptosis|apoptosis|endoplasmic reticulum membrane fusion|endoplasmic reticulum organization|induction of apoptosis|vesicle-mediated transport	integral to endoplasmic reticulum membrane|nuclear envelope|SNARE complex	protein binding			breast(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|skin(1)	11	Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			GGATCAGCAGGATGATGGCCC	0.562													84	118					0	0	1	0	0	A	172587005	G	A	172587005	2	1	270	1	0	0	0	0	0	0	0	1	1475	1165	41	2		2	BNIP1	5	172587005	Silent	SNP	G	TCGA-HT-7692-01A-12D-2253-08		172587005	8328255	8	27928											
MAGI2	9863	broad.mit.edu	37	7	77885556	77885556	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7692-01A-12D-2253-08	TCGA-HT-7692-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaa6dbfa-6641-4162-a34d-6718781793bc	4a5299fe-a61f-4e0d-9e89-bc7874cff10e	g.chr7:77885556G>A	ENST00000354212.4	-	10	2004	c.1751C>T	c.(1750-1752)cCg>cTg	p.P584L	MAGI2_ENST00000536571.1_Missense_Mutation_p.P416L|MAGI2_ENST00000535697.1_Missense_Mutation_p.P421L|MAGI2_ENST00000419488.1_Missense_Mutation_p.P584L|MAGI2_ENST00000522391.1_Missense_Mutation_p.P584L	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	584						cell junction|synapse|synaptosome	phosphatase binding	p.P584L(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				ATGGACGGGCGGTGGATACGT	0.527													3	54					0	0	1	0	0	A	77885556	G	A	77885556	3	1	270	1	0	0	0	0	1	0	0	0	9241	1116	39	1	2668	1	MAGI2	7	77885556	Missense_Mutation	SNP	G	TCGA-HT-7692-01A-12D-2253-08		77885556	81253107	9	27929											
BAI1	575	broad.mit.edu	37	8	143623472	143623472	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7692-01A-12D-2253-08	TCGA-HT-7692-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaa6dbfa-6641-4162-a34d-6718781793bc	4a5299fe-a61f-4e0d-9e89-bc7874cff10e	g.chr8:143623472C>T	ENST00000517894.1	+	28	4771	c.3877C>T	c.(3877-3879)Cgc>Tgc	p.R1293C	BAI1_ENST00000323289.5_Missense_Mutation_p.R1293C			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	1293					axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					CGGCTCACCCCGCTATCCCGG	0.652													3	32					0	0	1	0	0	T	143623472	C	T	143623472	3	4	270	1	0	0	0	0	1	0	0	0	1296	652	23	1	3983	1	BAI1	8	143623472	Missense_Mutation	SNP	C	TCGA-HT-7692-01A-12D-2253-08		143623472	2740550	10	27930											
FBXO18	84893	broad.mit.edu	37	10	5979128	5979128	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7692-01A-12D-2253-08	TCGA-HT-7692-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaa6dbfa-6641-4162-a34d-6718781793bc	4a5299fe-a61f-4e0d-9e89-bc7874cff10e	g.chr10:5979128G>A	ENST00000379999.5	+	22	3274	c.3170G>A	c.(3169-3171)cGc>cAc	p.R1057H	RP11-536K7.3_ENST00000397264.4_RNA|FBXO18_ENST00000362091.4_Missense_Mutation_p.R1006H|FBXO18_ENST00000397269.3_Missense_Mutation_p.R510H	NM_032807.4	NP_116196.3	Q8NFZ0	FBX18_HUMAN	F-box protein, helicase, 18	1006					DNA repair	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1)	40						GCGGAGCAGCGCATCGGGCCC	0.622													12	27					0	0	1	0	0	A	5979128	G	A	5979128	3	1	270	1	0	0	0	0	1	0	0	0	5764	1087	38	1	3261	1	FBXO18	10	5979128	Missense_Mutation	SNP	G	TCGA-HT-7692-01A-12D-2253-08		5979128	129555619	11	27931											
FGFR2	2263	broad.mit.edu	37	10	123256167	123256167	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-7692-01A-12D-2253-08	TCGA-HT-7692-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaa6dbfa-6641-4162-a34d-6718781793bc	4a5299fe-a61f-4e0d-9e89-bc7874cff10e	g.chr10:123256167G>T	ENST00000358487.5	-	13	2014	c.1742C>A	c.(1741-1743)cCa>cAa	p.P581Q	FGFR2_ENST00000357555.5_Missense_Mutation_p.P492Q|FGFR2_ENST00000369060.4_Missense_Mutation_p.P465Q|FGFR2_ENST00000369061.4_Missense_Mutation_p.P469Q|FGFR2_ENST00000478859.1_Missense_Mutation_p.P353Q|FGFR2_ENST00000360144.3_Missense_Mutation_p.P493Q|FGFR2_ENST00000457416.2_Missense_Mutation_p.P582Q|FGFR2_ENST00000351936.6_Missense_Mutation_p.P579Q|FGFR2_ENST00000346997.2_Missense_Mutation_p.P579Q|FGFR2_ENST00000369059.1_Missense_Mutation_p.P467Q|FGFR2_ENST00000356226.4_Missense_Mutation_p.P464Q|FGFR2_ENST00000369056.1_Missense_Mutation_p.P582Q	NM_000141.4	NP_000132.3	P21802	FGFR2_HUMAN	fibroblast growth factor receptor 2	581	Protein kinase.				angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division	cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding			breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2)	181		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	Palifermin(DB00039)	CATCCCGGGTGGCCTCCGGGC	0.532		5	Mis		"gastric. NSCLC, endometrial"		"Crouzon, Pfeiffer, and Apert syndromes"		Saethre-Chotzen syndrome;Apert syndrome				57	73					9.16383e-17	9.39293e-17	1	1	0	T	123256167	G	T	123256167	3	4	270	1	0	0	0	0	1	0	0	0	5899	1348	47	5	851	5	FGFR2	10	123256167	Missense_Mutation	SNP	G	TCGA-HT-7692-01A-12D-2253-08	117277039	123256167	12278580	12	27932											
MUC5B	727897	broad.mit.edu	37	11	1270916	1270916	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7692-01A-12D-2253-08	TCGA-HT-7692-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaa6dbfa-6641-4162-a34d-6718781793bc	4a5299fe-a61f-4e0d-9e89-bc7874cff10e	g.chr11:1270916C>T	ENST00000447027.1	+	31	12873	c.12815C>T	c.(12814-12816)cCg>cTg	p.P4272L	MUC5B_ENST00000529681.1_Missense_Mutation_p.P4269L			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4269	23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		ACGGCCACCCCGTCCTCCACC	0.642													42	162					0	0	1	0	0	T	1270916	C	T	1270916	3	4	270	1	0	0	0	0	1	0	0	0	10027	652	23	1	12937	1	MUC5B	11	1270916	Missense_Mutation	SNP	C	TCGA-HT-7692-01A-12D-2253-08		1270916	133735600	13	27933											
SAA4	6291	broad.mit.edu	37	11	18253209	18253209	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7692-01A-12D-2253-08	TCGA-HT-7692-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaa6dbfa-6641-4162-a34d-6718781793bc	4a5299fe-a61f-4e0d-9e89-bc7874cff10e	g.chr11:18253209C>T	ENST00000278222.4	-	4	413	c.233G>A	c.(232-234)cGt>cAt	p.R78H	SAA2-SAA4_ENST00000524555.1_RNA	NM_006512.3	NP_006503.2			serum amyloid A4, constitutive											haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|skin(1)|stomach(1)	13						GACCCTGGAACGGCTGCAACC	0.488													16	31					0	0	1	0	0	T	18253209	C	T	18253209	3	4	270	1	0	0	0	0	1	0	0	0	13852	536	19	1	163	1	SAA4	11	18253209	Missense_Mutation	SNP	C	TCGA-HT-7692-01A-12D-2253-08	16982293	18253209	116753307	14	27934											
OR4A15	81328	broad.mit.edu	37	11	55136117	55136118	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-HT-7692-01A-12D-2253-08	TCGA-HT-7692-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaa6dbfa-6641-4162-a34d-6718781793bc	4a5299fe-a61f-4e0d-9e89-bc7874cff10e	g.chr11:55136117_55136118delTT	ENST00000314706.3	+	1	758_759	c.758_759delTT	c.(757-759)cttfs	p.L253fs		NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A, member 15	253					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						TTACACTCTCTTAAGACTCAGA	0.436													7	80	---	---	---	---						-	55136118	TT	-	55136117	7	5	270	1	0	1	0	1	0	0	0	0	11088	1609	56	0	760	0	OR4A15	11	55136117	Frame_Shift_Del	DEL	TT	TCGA-HT-7692-01A-12D-2253-08	36882908	55136117	79870399	15	27935											
OR5A1	219982	broad.mit.edu	37	11	59211422	59211422	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7692-01A-12D-2253-08	TCGA-HT-7692-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaa6dbfa-6641-4162-a34d-6718781793bc	4a5299fe-a61f-4e0d-9e89-bc7874cff10e	g.chr11:59211422G>A	ENST00000302030.2	+	1	806	c.781G>A	c.(781-783)Gtg>Atg	p.V261M		NM_001004728.1	NP_001004728.1	Q8NGJ0	OR5A1_HUMAN	olfactory receptor, family 5, subfamily A, member 1	261					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	28						AGCCCTTTTCGTGTACTTGCG	0.537													100	144					0	0	1	0	0	A	59211422	G	A	59211422	3	1	270	1	0	0	0	0	1	0	0	0	11186	1145	40	1	783	1	OR5A1	11	59211422	Missense_Mutation	SNP	G	TCGA-HT-7692-01A-12D-2253-08	4075305	59211422	75795094	16	27936											
SUV420H1	51111	broad.mit.edu	37	11	67941292	67941292	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7692-01A-12D-2253-08	TCGA-HT-7692-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaa6dbfa-6641-4162-a34d-6718781793bc	4a5299fe-a61f-4e0d-9e89-bc7874cff10e	g.chr11:67941292T>C	ENST00000304363.4	-	6	985	c.632A>G	c.(631-633)aAa>aGa	p.K211R	SUV420H1_ENST00000405515.1_Missense_Mutation_p.K211R|SUV420H1_ENST00000402789.1_Missense_Mutation_p.K211R|SUV420H1_ENST00000402185.2_Missense_Mutation_p.K188R|SUV420H1_ENST00000401547.2_Missense_Mutation_p.K211R	NM_017635.3	NP_060105	Q4FZB7	SV421_HUMAN	suppressor of variegation 4-20 homolog 1 (Drosophila)	211	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						TGCAACTATTTTGGCTCCATT	0.299													6	63					0	0	1	0	0	C	67941292	T	C	67941292	3	2	270	1	0	0	0	0	1	0	0	0	15470	1841	64	3	2057	3	SUV420H1	11	67941292	Missense_Mutation	SNP	T	TCGA-HT-7692-01A-12D-2253-08	8729870	67941292	67065224	17	27937											
OR10G8	219869	broad.mit.edu	37	11	123901193	123901193	+	Silent	SNP	C	C	T			TCGA-HT-7692-01A-12D-2253-08	TCGA-HT-7692-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaa6dbfa-6641-4162-a34d-6718781793bc	4a5299fe-a61f-4e0d-9e89-bc7874cff10e	g.chr11:123901193C>T	ENST00000431524.1	+	1	897	c.864C>T	c.(862-864)acC>acT	p.T288T		NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G, member 8	288					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		TTGTGTACACCCTGAGGAACA	0.468													7	77					0	0	1	0	0	T	123901193	C	T	123901193	2	4	270	1	0	0	0	0	0	0	0	1	10951	610	22	2		2	OR10G8	11	123901193	Silent	SNP	C	TCGA-HT-7692-01A-12D-2253-08	55959901	123901193	11105323	18	27938											
NAV3	89795	broad.mit.edu	37	12	78591057	78591057	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7692-01A-12D-2253-08	TCGA-HT-7692-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaa6dbfa-6641-4162-a34d-6718781793bc	4a5299fe-a61f-4e0d-9e89-bc7874cff10e	g.chr12:78591057G>A	ENST00000397909.2	+	35	6495	c.6322G>A	c.(6322-6324)Gaa>Aaa	p.E2108K	NAV3_ENST00000228327.6_Missense_Mutation_p.E2086K|NAV3_ENST00000536525.2_Missense_Mutation_p.E2086K|NAV3_ENST00000266692.7_Missense_Mutation_p.E1909K			Q8IVL0	NAV3_HUMAN	neuron navigator 3	2108						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						TAACCTGGCTGAACAGTGCAG	0.338										HNSCC(70;0.22)			3	43					0	0	1	0	0	A	78591057	G	A	78591057	3	1	270	1	0	0	0	0	1	0	0	0	10233	1291	45	2	6390	2	NAV3	12	78591057	Missense_Mutation	SNP	G	TCGA-HT-7692-01A-12D-2253-08		78591057	55260838	19	27939											
DISP2	85455	broad.mit.edu	37	15	40656656	40656656	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7692-01A-12D-2253-08	TCGA-HT-7692-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaa6dbfa-6641-4162-a34d-6718781793bc	4a5299fe-a61f-4e0d-9e89-bc7874cff10e	g.chr15:40656656G>A	ENST00000267889.3	+	4	601	c.514G>A	c.(514-516)Gtg>Atg	p.V172M		NM_033510.1	NP_277045.1	A7MBM2	DISP2_HUMAN	dispatched homolog 2 (Drosophila)	172					smoothened signaling pathway	integral to membrane				breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)	30		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)		GCCAGTGGCCGTGCTGATGCT	0.602													4	139					0	0	1	0	0	A	40656656	G	A	40656656	3	1	270	1	0	0	0	0	1	0	0	0	4568	1145	40	1	528	1	DISP2	15	40656656	Missense_Mutation	SNP	G	TCGA-HT-7692-01A-12D-2253-08		40656656	61874736	20	27940											
SHBG	6462	broad.mit.edu	37	17	7535330	7535330	+	Silent	SNP	T	T	C			TCGA-HT-7692-01A-12D-2253-08	TCGA-HT-7692-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaa6dbfa-6641-4162-a34d-6718781793bc	4a5299fe-a61f-4e0d-9e89-bc7874cff10e	g.chr17:7535330T>C	ENST00000380450.4	+	6	880	c.849T>C	c.(847-849)gaT>gaC	p.D283D	SHBG_ENST00000570547.1_Intron|SHBG_ENST00000572182.1_Intron|SHBG_ENST00000441599.2_Intron|SHBG_ENST00000340624.5_Silent_p.D225D|SHBG_ENST00000575903.1_Silent_p.D265D|SHBG_ENST00000576478.1_Intron|SHBG_ENST00000576728.1_Silent_p.D171D|SHBG_ENST00000575314.1_Silent_p.D225D|SHBG_ENST00000572262.1_Silent_p.D171D|SHBG_ENST00000574539.1_Silent_p.D225D|SHBG_ENST00000416273.3_Silent_p.D283D	NM_001040.3	NP_001031.2	P04278	SHBG_HUMAN	sex hormone-binding globulin	283	Laminin G-like 2.				hormone transport	extracellular region	androgen binding|protein homodimerization activity	p.0?(1)|p.?(1)		cervix(1)|endometrium(2)|large_intestine(4)|lung(2)|skin(1)	10		all_cancers(10;0.0867)		READ - Rectum adenocarcinoma(115;0.168)	Danazol(DB01406)|Dromostanolone(DB00858)|Estradiol(DB00783)|Estrone(DB00655)|Fluoxymesterone(DB01185)|Hydrocortisone(DB00741)|Mitotane(DB00648)|Norethindrone(DB00717)|Testosterone(DB00624)	ACCTCCAAGATCAAGTAAAGG	0.542													21	120					0	0	1	0	0	C	7535330	T	C	7535330	2	2	270	1	0	0	0	0	0	0	0	1	14324	1432	50	3		3	SHBG	17	7535330	Silent	SNP	T	TCGA-HT-7692-01A-12D-2253-08		7535330	73659880	21	27941											
TNFRSF13B	23495	broad.mit.edu	37	17	16852148	16852148	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7692-01A-12D-2253-08	TCGA-HT-7692-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaa6dbfa-6641-4162-a34d-6718781793bc	4a5299fe-a61f-4e0d-9e89-bc7874cff10e	g.chr17:16852148C>T	ENST00000437538.2	-	2	219	c.211G>A	c.(211-213)Gag>Aag	p.E71K	TNFRSF13B_ENST00000581616.2_5'UTR|TNFRSF13B_ENST00000261652.2_Missense_Mutation_p.E117K|TNFRSF13B_ENST00000579315.1_Missense_Mutation_p.E117K|TNFRSF13B_ENST00000583789.1_Missense_Mutation_p.E71K			O14836	TR13B_HUMAN	tumor necrosis factor receptor superfamily, member 13B	117					cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding|receptor activity			endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|skin(1)	16						CTCCTGAGCTCTGGTGGAAGG	0.522									IgA Deficiency, Selective				71	105					0	0	1	0	0	T	16852148	C	T	16852148	3	4	270	1	0	0	0	0	1	0	0	0	16347	922	32	2	544	2	TNFRSF13B	17	16852148	Missense_Mutation	SNP	C	TCGA-HT-7692-01A-12D-2253-08	9316818	16852148	64343062	22	27942											
OR7D2	162998	broad.mit.edu	37	19	9296887	9296887	+	Silent	SNP	C	C	T			TCGA-HT-7692-01A-12D-2253-08	TCGA-HT-7692-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaa6dbfa-6641-4162-a34d-6718781793bc	4a5299fe-a61f-4e0d-9e89-bc7874cff10e	g.chr19:9296887C>T	ENST00000344248.2	+	1	609	c.430C>T	c.(430-432)Ctg>Ttg	p.L144L		NM_175883.2	NP_787079.1	Q96RA2	OR7D2_HUMAN	olfactory receptor, family 7, subfamily D, member 2	144					regulation of transcription, DNA-dependent|sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	20						CTGTGGCCTCCTGGTTTTTGT	0.478													19	187					0	0	1	0	0	T	9296887	C	T	9296887	2	4	270	1	0	0	0	0	0	0	0	1	11266	680	24	2		2	OR7D2	19	9296887	Silent	SNP	C	TCGA-HT-7692-01A-12D-2253-08		9296887	49832096	23	27943											
PPAN	56342	broad.mit.edu	37	19	10224314	10224314	+	Nonsense_Mutation	SNP	A	A	T			TCGA-HT-7692-01A-12D-2253-08	TCGA-HT-7692-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaa6dbfa-6641-4162-a34d-6718781793bc	4a5299fe-a61f-4e0d-9e89-bc7874cff10e	g.chr19:10224314A>T	ENST00000556468.1	+	13	1312	c.1285A>T	c.(1285-1287)Aag>Tag	p.K429*	PPAN-P2RY11_ENST00000393796.4_Nonsense_Mutation_p.K429*|P2RY11_ENST00000471843.1_3'UTR|P2RY11_ENST00000321826.4_Nonsense_Mutation_p.K9*|PPAN-P2RY11_ENST00000428358.1_Silent_p.P449P					peter pan homolog (Drosophila)											endometrium(3)|liver(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	15			OV - Ovarian serous cystadenocarcinoma(20;2.19e-08)|Epithelial(33;1.76e-05)|all cancers(31;3.54e-05)			CACAGGTGCCAAGTCCTGCCC	0.617											OREG0025230	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	15	23					0	0	1	0	0	T	10224314	A	T	10224314	4	4	270	1	0	0	0	0	0	1	0	0	12333	131	5	5		5	PPAN	19	10224314	Nonsense_Mutation	SNP	A	TCGA-HT-7692-01A-12D-2253-08	927427	10224314	48904669	24	27944											
FDX1L	112812	broad.mit.edu	37	19	10421614	10421614	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7692-01A-12D-2253-08	TCGA-HT-7692-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaa6dbfa-6641-4162-a34d-6718781793bc	4a5299fe-a61f-4e0d-9e89-bc7874cff10e	g.chr19:10421614C>T	ENST00000452032.2	-	4	322	c.310G>A	c.(310-312)Gcc>Acc	p.A104T	FDX1L_ENST00000393708.3_Missense_Mutation_p.A104T|FDX1L_ENST00000492239.1_5'UTR|FDX1L_ENST00000494368.1_5'UTR|FDX1L_ENST00000541276.1_Missense_Mutation_p.A107T																							GCTTCACAGGCCCCTAGGGGT	0.617													8	38					0	0	1	0	0	T	10421614	C	T	10421614	3	4	270	1	0	0	0	0	1	0	0	0	5838	739	26	2	249	2	FDX1L	19	10421614	Missense_Mutation	SNP	C	TCGA-HT-7692-01A-12D-2253-08	197300	10421614	48707369	25	27945											
SLC4A11	83959	broad.mit.edu	37	20	3209830	3209830	+	Silent	SNP	G	G	A			TCGA-HT-7692-01A-12D-2253-08	TCGA-HT-7692-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaa6dbfa-6641-4162-a34d-6718781793bc	4a5299fe-a61f-4e0d-9e89-bc7874cff10e	g.chr20:3209830G>A	ENST00000380059.3	-	16	2159	c.2058C>T	c.(2056-2058)agC>agT	p.S686S	SLC4A11_ENST00000380056.3_Silent_p.S659S|SLC4A11_ENST00000488544.1_5'UTR|SLC4A11_ENST00000539553.2_Silent_p.S643S	NM_001174090.1	NP_001167561.1	Q8NBS3	S4A11_HUMAN	solute carrier family 4, sodium borate transporter, member 11	659	Membrane (bicarbonate transporter).				cellular cation homeostasis|fluid transport|phosphoenolpyruvate-dependent sugar phosphotransferase system	basolateral plasma membrane|integral to membrane	bicarbonate transmembrane transporter activity|borate transmembrane transporter activity|hydrogen ion channel activity|inorganic anion exchanger activity|sodium channel activity|sugar:hydrogen symporter activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1)	40						CCATGGCACCGCTGACGGCCC	0.617													6	58					0	0	1	0	0	A	3209830	G	A	3209830	2	1	270	1	0	0	0	0	0	0	0	1	14707	1078	38	1		1	SLC4A11	20	3209830	Silent	SNP	G	TCGA-HT-7692-01A-12D-2253-08		3209830	59815690	26	27946											
CSRP2BP	57325	broad.mit.edu	37	20	18168088	18168088	+	Silent	SNP	G	G	A			TCGA-HT-7692-01A-12D-2253-08	TCGA-HT-7692-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaa6dbfa-6641-4162-a34d-6718781793bc	4a5299fe-a61f-4e0d-9e89-bc7874cff10e	g.chr20:18168088G>A	ENST00000435364.3	+	10	2675	c.2334G>A	c.(2332-2334)ctG>ctA	p.L778L	CSRP2BP_ENST00000489634.2_Silent_p.L650L|CSRP2BP_ENST00000377681.3_Silent_p.L777L	NM_020536.4	NP_065397	Q9H8E8	CSR2B_HUMAN	CSRP2 binding protein		N-acetyltransferase.				histone H3 acetylation	Ada2/Gcn5/Ada3 transcription activator complex|cytoplasm	LIM domain binding|N-acetyltransferase activity			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|stomach(1)	34						CATTCTTTCTGAGGCTCCGGC	0.413													49	60					0	0	1	0	0	A	18168088	G	A	18168088	2	1	270	1	0	0	0	0	0	0	0	1	3993	1277	45	2		2	CSRP2BP	20	18168088	Silent	SNP	G	TCGA-HT-7692-01A-12D-2253-08	14958258	18168088	44857432	27	27947											
FOXA2	3170	broad.mit.edu	37	20	22562677	22562677	+	Missense_Mutation	SNP	G	G	C			TCGA-HT-7692-01A-12D-2253-08	TCGA-HT-7692-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaa6dbfa-6641-4162-a34d-6718781793bc	4a5299fe-a61f-4e0d-9e89-bc7874cff10e	g.chr20:22562677G>C	ENST00000419308.2	-	2	1387	c.1203C>G	c.(1201-1203)caC>caG	p.H401Q	FOXA2_ENST00000377115.4_Missense_Mutation_p.H395Q	NM_021784.4	NP_068556.2	Q9Y261	FOXA2_HUMAN	forkhead box A2	401	Transactivation domain 2 (By similarity).				cell differentiation in hindbrain|central nervous system myelin formation|chromatin modification|dorsal/ventral neural tube patterning|ectoderm formation|endocrine pancreas development|endoderm development|epithelial tube branching involved in lung morphogenesis|in utero embryonic development|lung epithelial cell differentiation|negative regulation of neuron differentiation|neuron fate specification|oligodendrocyte cell fate commitment|positive regulation of embryonic development|positive regulation of gastrulation|positive regulation of neuron differentiation|primitive streak formation|regulation of blood coagulation|regulation of sequence-specific DNA binding transcription factor activity|response to interleukin-6	cytoplasm|transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			breast(1)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|urinary_tract(1)	22	Lung NSC(19;0.188)					TGTGGGGTtggtggtggtggt	0.612													3	37					0	0	1	0	0	C	22562677	G	C	22562677	3	2	270	1	0	0	0	0	1	0	0	0	6023	1252	44	5	192	5	FOXA2	20	22562677	Missense_Mutation	SNP	G	TCGA-HT-7692-01A-12D-2253-08	4394589	22562677	40462843	28	27948											
SLC5A3	6526	broad.mit.edu	37	21	35468232	35468232	+	Silent	SNP	A	A	G			TCGA-HT-7692-01A-12D-2253-08	TCGA-HT-7692-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaa6dbfa-6641-4162-a34d-6718781793bc	4a5299fe-a61f-4e0d-9e89-bc7874cff10e	g.chr21:35468232A>G	ENST00000608209.1	+	2	1247	c.735A>G	c.(733-735)aaA>aaG	p.K245K	AP000320.7_ENST00000362077.4_RNA|MRPS6_ENST00000399312.2_Intron|SLC5A3_ENST00000381151.3_Silent_p.K245K	NM_006933.4	NP_008864.3	P53794	SC5A3_HUMAN	solute carrier family 5 (sodium/myo-inositol cotransporter), member 3							integral to plasma membrane	myo-inositol:sodium symporter activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	20						CCCCTAAGAAAGAAGCCCTGA	0.453													49	74					0	0	1	0	0	G	35468232	A	G	35468232	2	3	270	1	0	0	0	0	0	0	0	1	14721	69	3	3		3	SLC5A3	21	35468232	Silent	SNP	A	TCGA-HT-7692-01A-12D-2253-08		35468232	12661663	29	27949											
KLHDC7A	127707	broad.mit.edu	37	1	18808237	18808237	+	Silent	SNP	C	C	T			TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chr1:18808237C>T	ENST00000400664.1	+	1	814	c.762C>T	c.(760-762)ggC>ggT	p.G254G		NM_152375.2	NP_689588.2	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A	254						integral to membrane				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		AGCAGGAGGGCGCCCCCAACT	0.612													6	138					0	0	1	0	0	T	18808237	C	T	18808237	2	4	271	1	0	0	0	0	0	0	0	1	8403	755	27	1		1	KLHDC7A	1	18808237	Silent	SNP	C	TCGA-HT-7693-01A-11D-2253-08		18808237	230442384	1	27950											
OR6N2	81442	broad.mit.edu	37	1	158747181	158747181	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chr1:158747181A>G	ENST00000339258.1	-	1	244	c.245T>C	c.(244-246)tTg>tCg	p.L82S		NM_001005278.1	NP_001005278.1	Q8NGY6	OR6N2_HUMAN	olfactory receptor, family 6, subfamily N, member 2	82					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(6)|lung(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_hematologic(112;0.0378)					AATATTAGACAACATCTTAGG	0.448													9	149					0	0	1	0	0	G	158747181	A	G	158747181	3	3	271	1	0	0	0	0	1	0	0	0	11254	131	5	3	711	3	OR6N2	1	158747181	Missense_Mutation	SNP	A	TCGA-HT-7693-01A-11D-2253-08	139938944	158747181	90503440	2	27951											
SELE	6401	broad.mit.edu	37	1	169699643	169699643	+	Silent	SNP	C	C	A			TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chr1:169699643C>A	ENST00000333360.7	-	5	784	c.645G>T	c.(643-645)ctG>ctT	p.L215L	SELE_ENST00000367782.4_Silent_p.L215L|SELE_ENST00000367775.1_Intron|SELE_ENST00000367781.4_Silent_p.L215L|SELE_ENST00000367777.1_Silent_p.L215L|SELE_ENST00000367776.1_Silent_p.L215L|SELE_ENST00000367780.4_Intron|C1orf112_ENST00000498289.1_Intron|SELE_ENST00000367774.1_Silent_p.L215L|SELE_ENST00000367779.4_Silent_p.L215L	NM_000450.2	NP_000441.2	P16581	LYAM2_HUMAN	selectin E	215	Sushi 1.				actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	all_hematologic(923;0.208)					TGCTGCTTGGCAGGTAACCCC	0.512													5	130					2.7689e-08	2.90287e-08	1	1	0	A	169699643	C	A	169699643	2	1	271	1	0	0	0	0	0	0	0	1	14067	697	25	5		5	SELE	1	169699643	Silent	SNP	C	TCGA-HT-7693-01A-11D-2253-08	10952462	169699643	79550978	3	27952											
COLEC11	78989	broad.mit.edu	37	2	3691639	3691639	+	Silent	SNP	C	C	T			TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chr2:3691639C>T	ENST00000403096.3	+	6	1160	c.669C>T	c.(667-669)ggC>ggT	p.G223G	COLEC11_ENST00000382062.2_Silent_p.G225G|COLEC11_ENST00000402922.1_Silent_p.G199G|COLEC11_ENST00000349077.4_Silent_p.G249G|COLEC11_ENST00000402794.1_Silent_p.G199G|COLEC11_ENST00000236693.7_Silent_p.G246G|COLEC11_ENST00000404205.1_Silent_p.G175G|COLEC11_ENST00000487365.1_3'UTR|COLEC11_ENST00000418971.2_Silent_p.G263G	NM_001255986.1	NP_001242915.1	Q9BWP8	COL11_HUMAN	collectin sub-family member 11	249	C-type lectin.					collagen	mannose binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|soft_tissue(1)	22	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)			OV - Ovarian serous cystadenocarcinoma(76;0.127)		TGGCCTCGGGCGGCTGGAACG	0.617													47	59					0	0	1	0	0	T	3691639	C	T	3691639	2	4	271	1	0	0	0	0	0	0	0	1	3734	755	27	1		1	COLEC11	2	3691639	Silent	SNP	C	TCGA-HT-7693-01A-11D-2253-08		3691639	239507734	4	27953											
XDH	7498	broad.mit.edu	37	2	31589846	31589846	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chr2:31589846C>T	ENST00000379416.3	-	21	2260	c.2212G>A	c.(2212-2214)Ggt>Agt	p.G738S		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	738					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	TCTTGGCCACCGATGTATATC	0.537													8	117					0	0	1	0	0	T	31589846	C	T	31589846	3	4	271	1	0	0	0	0	1	0	0	0	17486	652	23	1	1853	1	XDH	2	31589846	Missense_Mutation	SNP	C	TCGA-HT-7693-01A-11D-2253-08	27898207	31589846	211609527	5	27954											
STEAP3	55240	broad.mit.edu	37	2	120003112	120003112	+	Missense_Mutation	SNP	C	C	A			TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chr2:120003112C>A	ENST00000354888.5	+	3	544	c.40C>A	c.(40-42)Ctg>Atg	p.L14M	STEAP3_ENST00000450943.2_Missense_Mutation_p.L14M|STEAP3_ENST00000393107.2_Missense_Mutation_p.L14M|STEAP3_ENST00000393106.2_Missense_Mutation_p.L14M|STEAP3_ENST00000409811.1_Missense_Mutation_p.L14M|STEAP3_ENST00000425223.2_Missense_Mutation_p.L14M|STEAP3-AS1_ENST00000454260.1_RNA|STEAP3_ENST00000393108.2_Missense_Mutation_p.L14M|STEAP3_ENST00000393110.2_Missense_Mutation_p.L24M	NM_182915.2	NP_878919.2	Q658P3	STEA3_HUMAN	STEAP family member 3, metalloreductase	14					apoptosis|cell cycle|cellular iron ion homeostasis|protein secretion|transferrin transport|transmembrane transport	endosome membrane|integral to membrane|multivesicular body	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	17						CAGCCTCCACCTGGTGGACAG	0.612													3	73					1	1	1	1	0	A	120003112	C	A	120003112	3	1	271	1	0	0	0	0	1	0	0	0	15335	680	24	4	76	4	STEAP3	2	120003112	Missense_Mutation	SNP	C	TCGA-HT-7693-01A-11D-2253-08	88413266	120003112	123196261	6	27955											
LRP2	4036	broad.mit.edu	37	2	170026253	170026253	+	Missense_Mutation	SNP	C	C	A			TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chr2:170026253C>A	ENST00000263816.3	-	60	11741	c.11456G>T	c.(11455-11457)gGa>gTa	p.G3819V		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	3819	LDL-receptor class A 33.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	GTCAGCGGATCCATCGCATTT	0.428													17	108					1.67942e-08	1.78954e-08	1	1	0	A	170026253	C	A	170026253	3	1	271	1	0	0	0	0	1	0	0	0	9001	855	30	5	2591	5	LRP2	2	170026253	Missense_Mutation	SNP	C	TCGA-HT-7693-01A-11D-2253-08	50023141	170026253	73173120	7	27956											
HOXD3	3232	broad.mit.edu	37	2	177033896	177033896	+	Silent	SNP	G	G	A			TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chr2:177033896G>A	ENST00000468418.3	+	3	2144	c.54G>A	c.(52-54)caG>caA	p.Q18Q	HOXD3_ENST00000249440.3_Silent_p.Q18Q|HOXD3_ENST00000410016.1_Silent_p.Q18Q			P31249	HXD3_HUMAN	homeobox D3	18					anterior/posterior pattern formation|cartilage development|cell-matrix adhesion|embryonic skeletal system morphogenesis|Notch signaling pathway|positive regulation of gene expression|positive regulation of neuron differentiation|thyroid gland development		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(11)|prostate(1)|upper_aerodigestive_tract(2)	23			OV - Ovarian serous cystadenocarcinoma(117;0.00569)|Epithelial(96;0.0864)|all cancers(119;0.226)	Colorectal(32;0.247)		GCACAATGCAGAAGGCTGCTT	0.527													3	74					0	0	1	0	0	A	177033896	G	A	177033896	2	1	271	1	0	0	0	0	0	0	0	1	7364	933	33	2		2	HOXD3	2	177033896	Silent	SNP	G	TCGA-HT-7693-01A-11D-2253-08	7007643	177033896	66165477	8	27957											
IDH1	3417	broad.mit.edu	37	2	209113113	209113113	+	Missense_Mutation	SNP	G	G	A	rs121913499		TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chr2:209113113G>A	ENST00000415913.1	-	4	775	c.394C>T	c.(394-396)Cgt>Tgt	p.R132C	IDH1_ENST00000345146.2_Missense_Mutation_p.R132C|IDH1_ENST00000446179.1_Missense_Mutation_p.R132C	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		TAAGCATGACGACCTATGATG	0.398			Mis		gliobastoma								40	46					0	0	1	0	0	A	209113113	G	A	209113113	3	1	271	1	0	0	0	0	1	0	0	0	7538	1058	37	1	878	1	IDH1	2	209113113	Missense_Mutation	SNP	G	TCGA-HT-7693-01A-11D-2253-08	32079217	209113113	34086260	9	27958											
CDCP1	64866	broad.mit.edu	37	3	45152168	45152168	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chr3:45152168C>G	ENST00000296129.1	-	4	955	c.821G>C	c.(820-822)tGt>tCt	p.C274S	CDCP1_ENST00000425231.2_Missense_Mutation_p.C274S	NM_022842.3	NP_073753.3	Q9H5V8	CDCP1_HUMAN	CUB domain containing protein 1	274						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)		CTTCCTCTCACAGTTGGAGAG	0.592													3	137					0	0	1	0	0	G	45152168	C	G	45152168	3	3	271	1	0	0	0	0	1	0	0	0	3115	478	17	5	1721	5	CDCP1	3	45152168	Missense_Mutation	SNP	C	TCGA-HT-7693-01A-11D-2253-08		45152168	152870262	10	27959											
FYCO1	79443	broad.mit.edu	37	3	46023170	46023170	+	Splice_Site	SNP	T	T	C			TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chr3:46023170T>C	ENST00000296137.2	-	3	261		c.e3-2		FYCO1_ENST00000535325.1_Splice_Site	NM_024513.3	NP_078789.2	Q9BQS8	FYCO1_HUMAN	FYVE and coiled-coil domain containing 1						transport	integral to membrane	metal ion binding|protein binding			NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		TCACAGCATCTTTAAGACAAC	0.408													26	33					0	0	1	0	0	C	46023170	T	C	46023170	5	2	271	1	0	0	0	0	0	0	1	0	6160	1623	56	3	4446	3	FYCO1	3	46023170	Splice_Site	SNP	T	TCGA-HT-7693-01A-11D-2253-08	871002	46023170	151999260	11	27960											
PHF7	51533	broad.mit.edu	37	3	52454349	52454349	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chr3:52454349A>G	ENST00000327906.3	+	6	971	c.311A>G	c.(310-312)aAg>aGg	p.K104R	PHF7_ENST00000347025.2_Missense_Mutation_p.K104R	NM_016483.4	NP_057567.3	Q9BWX1	PHF7_HUMAN	PHD finger protein 7	104						nucleus	zinc ion binding			breast(2)|large_intestine(4)|lung(3)	9				BRCA - Breast invasive adenocarcinoma(193;1.71e-05)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)|OV - Ovarian serous cystadenocarcinoma(275;0.0275)		TGCAAGAAAAAGGGAGCTGCT	0.453													3	154					0	0	1	0	0	G	52454349	A	G	52454349	3	3	271	1	0	0	0	0	1	0	0	0	11887	72	3	3	329	3	PHF7	3	52454349	Missense_Mutation	SNP	A	TCGA-HT-7693-01A-11D-2253-08	6431179	52454349	145568081	12	27961											
EPHA3	2042	broad.mit.edu	37	3	89480429	89480429	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chr3:89480429A>G	ENST00000336596.2	+	13	2491	c.2266A>G	c.(2266-2268)Agt>Ggt	p.S756G	EPHA3_ENST00000494014.1_Missense_Mutation_p.S756G	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	756	Protein kinase.					extracellular region|integral to plasma membrane	ATP binding			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		CTTGATCAACAGTAACTTGGT	0.478										TSP Lung(6;0.00050)			18	37					0	0	1	0	0	G	89480429	A	G	89480429	3	3	271	1	0	0	0	0	1	0	0	0	5196	188	7	3	2342	3	EPHA3	3	89480429	Missense_Mutation	SNP	A	TCGA-HT-7693-01A-11D-2253-08	37026080	89480429	108542001	13	27962											
SULT1E1	6783	broad.mit.edu	37	4	70709895	70709895	+	Silent	SNP	C	C	T			TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chr4:70709895C>T	ENST00000226444.3	-	7	868	c.756G>A	c.(754-756)tcG>tcA	p.S252S		NM_005420.2	NP_005411.1	P49888	ST1E1_HUMAN	sulfotransferase family 1E, estrogen-preferring, member 1	252					3'-phosphoadenosine 5'-phosphosulfate metabolic process|sulfation|xenobiotic metabolic process	cytosol|nuclear membrane	estrone sulfotransferase activity|flavonol 3-sulfotransferase activity|steroid binding|steroid sulfotransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	10						TCATGAAGGGCGACAATTTCT	0.393													58	124					0	0	1	0	0	T	70709895	C	T	70709895	2	4	271	1	0	0	0	0	0	0	0	1	15436	755	27	1		1	SULT1E1	4	70709895	Silent	SNP	C	TCGA-HT-7693-01A-11D-2253-08		70709895	120444381	14	27963											
GPR98	84059	broad.mit.edu	37	5	90106491	90106491	+	Silent	SNP	C	C	T			TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chr5:90106491C>T	ENST00000405460.2	+	74	15510	c.15414C>T	c.(15412-15414)ccC>ccT	p.P5138P	GPR98_ENST00000425867.2_Silent_p.P799P	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	5138					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TTTCCTTCCCCGAGACAACTG	0.448													6	216					0	0	1	0	0	T	90106491	C	T	90106491	2	4	271	1	0	0	0	0	0	0	0	1	6762	639	23	1		1	GPR98	5	90106491	Silent	SNP	C	TCGA-HT-7693-01A-11D-2253-08		90106491	90808769	15	27964											
SLCO4C1	353189	broad.mit.edu	37	5	101631898	101631898	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chr5:101631898C>G	ENST00000310954.6	-	1	355	c.69G>C	c.(67-69)ttG>ttC	p.L23F		NM_180991.4	NP_851322.3	Q6ZQN7	SO4C1_HUMAN	solute carrier organic anion transporter family, member 4C1	23					cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		GCGACGCAGACAAGCGGCGCA	0.577													21	31					0	0	1	0	0	G	101631898	C	G	101631898	3	3	271	1	0	0	0	0	1	0	0	0	14785	477	17	5	2157	5	SLCO4C1	5	101631898	Missense_Mutation	SNP	C	TCGA-HT-7693-01A-11D-2253-08	11525407	101631898	79283362	16	27965											
TRIM41	90933	broad.mit.edu	37	5	180651435	180651435	+	Missense_Mutation	SNP	A	A	T			TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chr5:180651435A>T	ENST00000315073.5	+	1	1146	c.436A>T	c.(436-438)Agg>Tgg	p.R146W	TRIM41_ENST00000351937.5_Missense_Mutation_p.R146W	NM_033549.4	NP_291027.3	Q8WV44	TRI41_HUMAN	tripartite motif containing 41	146	Glu-rich.					cytoplasm|nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(3)|prostate(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	26	all_cancers(89;9.17e-06)|all_epithelial(37;1.19e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.000209)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ggaggacctgaggggggagga	0.627													28	47					0	0	1	0	0	T	180651435	A	T	180651435	3	4	271	1	0	0	0	0	1	0	0	0	16577	295	11	5	438	5	TRIM41	5	180651435	Missense_Mutation	SNP	A	TCGA-HT-7693-01A-11D-2253-08	79019537	180651435	263825	17	27966											
FILIP1	27145	broad.mit.edu	37	6	76024718	76024718	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chr6:76024718T>C	ENST00000393004.2	-	5	1051	c.830A>G	c.(829-831)gAa>gGa	p.E277G	FILIP1_ENST00000370020.1_Missense_Mutation_p.E178G|FILIP1_ENST00000498523.1_5'UTR|FILIP1_ENST00000237172.7_Missense_Mutation_p.E277G			Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	277										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						CTCTTCTTCTTCCCTCAGCTT	0.423													4	87					0	0	1	0	0	C	76024718	T	C	76024718	3	2	271	1	0	0	0	0	1	0	0	0	5927	1783	62	3	2819	3	FILIP1	6	76024718	Missense_Mutation	SNP	T	TCGA-HT-7693-01A-11D-2253-08		76024718	95090349	18	27967											
LPA	4018	broad.mit.edu	37	6	161016555	161016555	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chr6:161016555C>G	ENST00000447678.1	-	22	3420	c.3300G>C	c.(3298-3300)agG>agC	p.R1100S	LPA_ENST00000316300.5_Missense_Mutation_p.R1100S	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN	lipoprotein, Lp(a)	3608	Kringle 10.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	TGCAGTAGTTCCTGGTCAGGC	0.498													6	66					0	0	1	0	0	G	161016555	C	G	161016555	3	3	271	1	0	0	0	0	1	0	0	0	8948	854	30	5	2898	5	LPA	6	161016555	Missense_Mutation	SNP	C	TCGA-HT-7693-01A-11D-2253-08	84991837	161016555	10098512	19	27968											
C8orf47	203111	broad.mit.edu	37	8	99101917	99101917	+	Missense_Mutation	SNP	G	G	C			TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chr8:99101917G>C	ENST00000318528.3	+	2	1031	c.672G>C	c.(670-672)gaG>gaC	p.E224D	C8orf47_ENST00000545282.1_Intron	NM_173549.2	NP_775820.2	Q6P6B1	CH047_HUMAN	chromosome 8 open reading frame 47	224	Glu-rich.									kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(2)	13	Breast(36;2.31e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.214)			TTTCCAAAGAGAATGAATCTC	0.483													17	33					0	0	1	0	0	C	99101917	G	C	99101917	3	2	271	1	0	0	0	0	1	0	0	0	2449	933	33	4	678	4	C8orf47	8	99101917	Missense_Mutation	SNP	G	TCGA-HT-7693-01A-11D-2253-08		99101917	47262105	20	27969											
ZFAT	57623	broad.mit.edu	37	8	135649705	135649705	+	Splice_Site	SNP	T	T	C			TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chr8:135649705T>C	ENST00000520727.1	-	4	710	c.411A>G	c.(409-411)gcA>gcG	p.A137A	ZFAT_ENST00000520356.1_Splice_Site_p.A137A|ZFAT_ENST00000429442.2_Splice_Site_p.A137A|ZFAT_ENST00000377838.3_Splice_Site_p.A149A|ZFAT_ENST00000520214.1_Splice_Site_p.A137A|ZFAT_ENST00000523399.1_Splice_Site_p.A149A	NM_001029939.3	NP_001025110.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	149					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			AGCATTTACCTGCTTCTCCTT	0.468													75	105					0	0	1	0	0	C	135649705	T	C	135649705	5	2	271	1	0	0	0	0	0	0	1	0	17690	1594	55	3	3340	3	ZFAT	8	135649705	Splice_Site	SNP	T	TCGA-HT-7693-01A-11D-2253-08	36547788	135649705	10714317	21	27970											
PTCH1	5727	broad.mit.edu	37	9	98270593	98270595	+	In_Frame_Del	DEL	GCC	GCC	-			TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chr9:98270593_98270595delGCC	ENST00000331920.6	-	1	348_350	c.49_51delGGC	c.(49-51)ggcdel	p.G17del	PTCH1_ENST00000437951.1_Intron|PTCH1_ENST00000375274.2_Intron|PTCH1_ENST00000468211.2_Intron|PTCH1_ENST00000430669.2_Intron	NM_000264.3	NP_000255.2	Q13635	PTC1_HUMAN	patched 1	17	Gly-rich.				embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity			NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				TACAGCCGCTGCCGCCGCCGCCG	0.813													2	4	---	---	---	---						-	98270595	GCC	-	98270593	7	5	271	1	0	1	0	1	0	0	0	0	12779	1306	46	0	4384	0	PTCH1	9	98270593	In_Frame_Del	DEL	GCC	TCGA-HT-7693-01A-11D-2253-08		98270593	42942838	22	27971											
OR5C1	392391	broad.mit.edu	37	9	125551909	125551909	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chr9:125551909G>A	ENST00000373680.2	+	1	760	c.698G>A	c.(697-699)cGc>cAc	p.R233H		NM_001001923.1	NP_001001923.1	Q8NGR4	OR5C1_HUMAN	olfactory receptor, family 5, subfamily C, member 1	233					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(5)|skin(1)	20						ATCCACATGCGCTCGGTCGAG	0.592													6	77					0	0	1	0	0	A	125551909	G	A	125551909	3	1	271	1	0	0	0	0	1	0	0	0	11200	1087	38	1	700	1	OR5C1	9	125551909	Missense_Mutation	SNP	G	TCGA-HT-7693-01A-11D-2253-08	27281316	125551909	15661522	23	27972											
CACNB2	783	broad.mit.edu	37	10	18787332	18787332	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chr10:18787332G>A	ENST00000396576.2	+	3	718	c.217G>A	c.(217-219)Gcc>Acc	p.A73T	CACNB2_ENST00000377315.4_Missense_Mutation_p.A80T|CACNB2_ENST00000352115.6_Missense_Mutation_p.A128T|CACNB2_ENST00000377329.4_Missense_Mutation_p.A74T|CACNB2_ENST00000282343.8_Missense_Mutation_p.A100T|CACNB2_ENST00000324631.7_Missense_Mutation_p.A128T|CACNB2_ENST00000377319.3_Missense_Mutation_p.A73T|CACNB2_ENST00000377328.1_Missense_Mutation_p.A128T|CACNB2_ENST00000377331.2_Missense_Mutation_p.A100T	NM_000724.3	NP_000715.2	Q08289	CACB2_HUMAN	calcium channel, voltage-dependent, beta 2 subunit	128					axon guidance|neuromuscular junction development	integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2)	31					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	CTACAGTGCGGCCCATGAAGA	0.423													4	81					0	0	1	0	0	A	18787332	G	A	18787332	3	1	271	1	0	0	0	0	1	0	0	0	2571	1203	42	2	616	2	CACNB2	10	18787332	Missense_Mutation	SNP	G	TCGA-HT-7693-01A-11D-2253-08		18787332	116747415	24	27973											
CD248	57124	broad.mit.edu	37	11	66084109	66084109	+	Silent	SNP	G	G	A			TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chr11:66084109G>A	ENST00000311330.3	-	1	406	c.390C>T	c.(388-390)cgC>cgT	p.R130R	RP11-867G23.13_ENST00000534065.1_RNA	NM_020404.2	NP_065137.1	Q9HCU0	CD248_HUMAN	CD248 molecule, endosialin	130	C-type lectin.					integral to membrane|proteinaceous extracellular matrix	calcium ion binding|sugar binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	26					Cefalotin(DB00456)	GGGCCACACAGCGCTGGGCCG	0.701													31	17					0	0	1	0	0	A	66084109	G	A	66084109	2	1	271	1	0	0	0	0	0	0	0	1	3011	958	34	2		2	CD248	11	66084109	Silent	SNP	G	TCGA-HT-7693-01A-11D-2253-08		66084109	68922407	25	27974											
FAM76B	143684	broad.mit.edu	37	11	95512812	95512812	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chr11:95512812C>G	ENST00000358780.5	-	7	963	c.651G>C	c.(649-651)aaG>aaC	p.K217N	FAM76B_ENST00000536839.1_Missense_Mutation_p.K217N	NM_144664.4	NP_653265.3	Q5HYJ3	FA76B_HUMAN	family with sequence similarity 76, member B	217										breast(1)|kidney(1)|lung(1)	3		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				TGGGCTTTTTCTTTGGAGTTT	0.308													14	126					0	0	1	0	0	G	95512812	C	G	95512812	3	3	271	1	0	0	0	0	1	0	0	0	5657	912	32	4	384	4	FAM76B	11	95512812	Missense_Mutation	SNP	C	TCGA-HT-7693-01A-11D-2253-08	29428703	95512812	39493704	26	27975											
MGAT4C	25834	broad.mit.edu	37	12	86373270	86373270	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chr12:86373270C>G	ENST00000604798.1	-	8	2438	c.1234G>C	c.(1234-1236)Gat>Cat	p.D412H	MGAT4C_ENST00000549405.2_Missense_Mutation_p.D412H|MGAT4C_ENST00000552808.2_Missense_Mutation_p.D412H|MGAT4C_ENST00000332156.1_Missense_Mutation_p.D412H|MGAT4C_ENST00000548651.1_Missense_Mutation_p.D412H|MGAT4C_ENST00000393205.2_Missense_Mutation_p.D441H			Q9UBM8	MGT4C_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative)	412					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						TCCCCAACATCTAGGGCTCCA	0.318													4	52					0	0	1	0	0	G	86373270	C	G	86373270	3	3	271	1	0	0	0	0	1	0	0	0	9597	913	32	4	206	4	MGAT4C	12	86373270	Missense_Mutation	SNP	C	TCGA-HT-7693-01A-11D-2253-08		86373270	47478625	27	27976											
SDR39U1	56948	broad.mit.edu	37	14	24909470	24909470	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chr14:24909470G>A	ENST00000554698.1	-	4	884	c.377C>T	c.(376-378)gCt>gTt	p.A126V	SDR39U1_ENST00000555365.1_Missense_Mutation_p.A67V|KHNYN_ENST00000251343.5_3'UTR|SDR39U1_ENST00000399390.1_Missense_Mutation_p.A139V|SDR39U1_ENST00000538105.2_Missense_Mutation_p.A152V|SDR39U1_ENST00000555561.1_5'UTR|SDR39U1_ENST00000553930.1_Missense_Mutation_p.A109V|SDR39U1_ENST00000399395.3_Missense_Mutation_p.A234V			Q9NRG7	D39U1_HUMAN	short chain dehydrogenase/reductase family 39U, member 1	260							binding			NS(1)|central_nervous_system(1)|large_intestine(2)|pancreas(1)	5						GCCCAGGGCAGCACCCAAGGT	0.622													3	54					0	0	1	0	0	A	24909470	G	A	24909470	3	1	271	1	0	0	0	0	1	0	0	0	14026	971	34	2	184	2	SDR39U1	14	24909470	Missense_Mutation	SNP	G	TCGA-HT-7693-01A-11D-2253-08		24909470	82440070	28	27977											
HECTD1	25831	broad.mit.edu	37	14	31590686	31590686	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chr14:31590686C>T	ENST00000399332.1	-	28	5629	c.5141G>A	c.(5140-5142)cGt>cAt	p.R1714H	HECTD1_ENST00000553700.1_Missense_Mutation_p.R1714H	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	1714					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		GCCAGCTCGACGTTGCAGGGA	0.507													15	31					0	0	1	0	0	T	31590686	C	T	31590686	3	4	271	1	0	0	0	0	1	0	0	0	7080	536	19	1	2755	1	HECTD1	14	31590686	Missense_Mutation	SNP	C	TCGA-HT-7693-01A-11D-2253-08	6681216	31590686	75758854	29	27978											
PNN	5411	broad.mit.edu	37	14	39648579	39648579	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chr14:39648579A>G	ENST00000216832.4	+	8	773	c.706A>G	c.(706-708)Aag>Gag	p.K236E	PNN_ENST00000557680.1_3'UTR	NM_002687.3	NP_002678	Q9H307	PININ_HUMAN	pinin, desmosome associated protein	236	Glu-rich.|Necessary for interaction with RNPS1.				cell adhesion|regulation of transcription, DNA-dependent|transcription, DNA-dependent	catalytic step 2 spliceosome|desmosome|intermediate filament|nuclear speck	DNA binding|protein binding|structural molecule activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)|stomach(1)	27	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0119)		TATAAGAACTAAGACAAAGCC	0.338													3	24					0	0	1	0	0	G	39648579	A	G	39648579	3	3	271	1	0	0	0	0	1	0	0	0	12208	363	13	3	736	3	PNN	14	39648579	Missense_Mutation	SNP	A	TCGA-HT-7693-01A-11D-2253-08	8057893	39648579	67700961	30	27979											
TP53BP1	7158	broad.mit.edu	37	15	43701105	43701105	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chr15:43701105T>C	ENST00000263801.3	-	26	5827	c.5575A>G	c.(5575-5577)Att>Gtt	p.I1859V	TP53BP1_ENST00000450115.2_Missense_Mutation_p.I1862V|TP53BP1_ENST00000382039.3_Missense_Mutation_p.I1814V|TP53BP1_ENST00000382044.4_Missense_Mutation_p.I1864V	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	1859					double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		CAGTCCAGAATTCTTTGCTCC	0.473								Other conserved DNA damage response genes					6	91					0	0	1	0	0	C	43701105	T	C	43701105	3	2	271	1	0	0	0	0	1	0	0	0	16444	1493	52	3	355	3	TP53BP1	15	43701105	Missense_Mutation	SNP	T	TCGA-HT-7693-01A-11D-2253-08		43701105	58830287	31	27980											
SBK1	388228	broad.mit.edu	37	16	28331453	28331453	+	Silent	SNP	G	G	C			TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chr16:28331453G>C	ENST00000341901.4	+	4	1275	c.486G>C	c.(484-486)ctG>ctC	p.L162L		NM_001024401.2	NP_001019572.1	Q52WX2	SBK1_HUMAN	SH3 domain binding kinase 1	162	Protein kinase.					cytoplasm	ATP binding|protein serine/threonine kinase activity			kidney(1)|lung(3)|ovary(1)	5						GCCTGGCGCTGGACTTCATGC	0.692													2	9					0	0	1	0	0	C	28331453	G	C	28331453	2	2	271	1	0	0	0	0	0	0	0	1	13913	1335	47	5		5	SBK1	16	28331453	Silent	SNP	G	TCGA-HT-7693-01A-11D-2253-08		28331453	62023300	32	27981											
TP53	7157	broad.mit.edu	37	17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	rs121913343		TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chr17:7577121G>A	ENST00000420246.2	-	8	949	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000269305.4_Missense_Mutation_p.R273C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	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).		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.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			28	2					0	0	1	0	0	A	7577121	G	A	7577121	3	1	271	1	0	0	0	0	1	0	0	0	16442	1087	38	1	469	1	TP53	17	7577121	Missense_Mutation	SNP	G	TCGA-HT-7693-01A-11D-2253-08		7577121	73618089	33	27982											
NOS2	4843	broad.mit.edu	37	17	26116671	26116671	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chr17:26116671G>A	ENST00000313735.6	-	3	387	c.154C>T	c.(154-156)Cag>Tag	p.Q52*		NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN	nitric oxide synthase 2, inducible	52					arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process	cytosol|nucleus	arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56					Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)	TCATTCTGCTGCTTGCTGAGG	0.567													8	184					0	0	1	0	0	A	26116671	G	A	26116671	4	1	271	1	0	0	0	0	0	1	0	0	10590	1328	46	2	3407	2	NOS2	17	26116671	Nonsense_Mutation	SNP	G	TCGA-HT-7693-01A-11D-2253-08	18539550	26116671	55078539	34	27983											
TUBG1	7283	broad.mit.edu	37	17	40765009	40765009	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chr17:40765009A>G	ENST00000251413.3	+	6	586	c.524A>G	c.(523-525)cAg>cGg	p.Q175R		NM_001070.4	NP_001061.2	P23258	TBG1_HUMAN	tubulin, gamma 1	175					G2/M transition of mitotic cell cycle|meiotic spindle organization|protein polymerization	condensed nuclear chromosome|cytosol|gamma-tubulin complex|polar microtubule	GTP binding|GTPase activity|protein binding|structural constituent of cytoskeleton			endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.129)		TTTCCCAACCAGGACGAGATG	0.537													5	181					0	0	1	0	0	G	40765009	A	G	40765009	3	3	271	1	0	0	0	0	1	0	0	0	16826	188	7	3	546	3	TUBG1	17	40765009	Missense_Mutation	SNP	A	TCGA-HT-7693-01A-11D-2253-08	14648338	40765009	40430201	35	27984											
NLRP5	126206	broad.mit.edu	37	19	56539141	56539141	+	Silent	SNP	C	C	T			TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chr19:56539141C>T	ENST00000390649.3	+	7	1542	c.1542C>T	c.(1540-1542)ggC>ggT	p.G514G		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	514	NACHT.					mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		CCCCTCGAGGCGTGGTCCGGC	0.592													14	16					0	0	1	0	0	T	56539141	C	T	56539141	2	4	271	1	0	0	0	0	0	0	0	1	10527	755	27	1		1	NLRP5	19	56539141	Silent	SNP	C	TCGA-HT-7693-01A-11D-2253-08		56539141	2589842	36	27985											
KRTAP13-3	337960	broad.mit.edu	37	21	31798186	31798186	+	Silent	SNP	G	G	A			TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chr21:31798186G>A	ENST00000390690.2	-	1	100	c.45C>T	c.(43-45)caC>caT	p.H15H		NM_181622.1	NP_853653.1	Q3SY46	KR133_HUMAN	keratin associated protein 13-3	15						intermediate filament				endometrium(1)|large_intestine(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	14						AGTAACCCCCGTGGGAGCAGG	0.542													67	83					0	0	1	0	0	A	31798186	G	A	31798186	2	1	271	1	0	0	0	0	0	0	0	1	8567	1136	40	1		1	KRTAP13-3	21	31798186	Silent	SNP	G	TCGA-HT-7693-01A-11D-2253-08		31798186	16331709	37	27986											
CELSR1	9620	broad.mit.edu	37	22	46793715	46793715	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chr22:46793715C>T	ENST00000262738.3	-	12	5556	c.5557G>A	c.(5557-5559)Gtc>Atc	p.V1853I		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	1853	Laminin G-like 2.				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		AGGGTGGCGACGTTGGTGGGC	0.602													14	16					0	0	1	0	0	T	46793715	C	T	46793715	3	4	271	1	0	0	0	0	1	0	0	0	3243	536	19	1	3583	1	CELSR1	22	46793715	Missense_Mutation	SNP	C	TCGA-HT-7693-01A-11D-2253-08		46793715	4510851	38	27987											
PAGE1	8712	broad.mit.edu	37	X	49455852	49455852	+	Splice_Site	SNP	C	C	T			TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chrX:49455852C>T	ENST00000376150.3	-	4	424	c.292G>A	c.(292-294)Ggg>Agg	p.G98R		NM_003785.3	NP_003776.2	O75459	GAGB1_HUMAN	P antigen family, member 1 (prostate associated)	98					cellular defense response					endometrium(1)|large_intestine(2)|lung(2)|skin(1)|urinary_tract(1)	7	Ovarian(276;0.236)					GACTACCTACCTTCTGCGGGC	0.468													13	52					0	0	1	0	0	T	49455852	C	T	49455852	5	4	271	1	0	0	0	0	0	0	1	0	11436	695	24	2	160	2	PAGE1	23	49455852	Splice_Site	SNP	C	TCGA-HT-7693-01A-11D-2253-08		49455852	105814708	39	27988											
TSR2	90121	broad.mit.edu	37	X	54470611	54470611	+	Missense_Mutation	SNP	G	G	C			TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chrX:54470611G>C	ENST00000375151.4	+	4	456	c.435G>C	c.(433-435)gaG>gaC	p.E145D		NM_058163.1	NP_477511.1	Q969E8	TSR2_HUMAN	TSR2, 20S rRNA accumulation, homolog (S. cerevisiae)	145					rRNA processing		protein binding			breast(1)|endometrium(3)|lung(2)	6						GTGTGGAAGAGATGGAGGTGA	0.498													65	86					0	0	1	0	0	C	54470611	G	C	54470611	3	2	271	1	0	0	0	0	1	0	0	0	16726	933	33	4	449	4	TSR2	23	54470611	Missense_Mutation	SNP	G	TCGA-HT-7693-01A-11D-2253-08	5014759	54470611	100799949	40	27989											
ARHGEF9	23229	broad.mit.edu	37	X	62917174	62917174	+	Missense_Mutation	SNP	T	T	G			TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chrX:62917174T>G	ENST00000253401.6	-	4	1192	c.392A>C	c.(391-393)aAg>aCg	p.K131T	ARHGEF9_ENST00000374872.1_Missense_Mutation_p.K110T|ARHGEF9_ENST00000437457.2_Missense_Mutation_p.K78T|ARHGEF9_ENST00000374878.1_Missense_Mutation_p.K129T|ARHGEF9_ENST00000374870.4_Missense_Mutation_p.K29T|ARHGEF9_ENST00000495564.1_5'UTR	NM_015185.2	NP_056000.1	O43307	ARHG9_HUMAN	Cdc42 guanine nucleotide exchange factor (GEF) 9	131	DH.				apoptosis|induction of apoptosis by extracellular signals|ion transmembrane transport|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol	Rho guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|skin(1)	35						CCGGCACTGCTTCAGATAGCC	0.453													4	76					0	0	1	0	0	G	62917174	T	G	62917174	3	3	271	1	0	0	0	0	1	0	0	0	909	1609	56	5	1186	5	ARHGEF9	23	62917174	Missense_Mutation	SNP	T	TCGA-HT-7693-01A-11D-2253-08	8446563	62917174	92353386	41	27990											
TAF1	6872	broad.mit.edu	37	X	70618475	70618475	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chrX:70618475G>A	ENST00000449580.1	+	24	3722	c.3671G>A	c.(3670-3672)cGg>cAg	p.R1224Q	TAF1_ENST00000276072.3_Missense_Mutation_p.R1245Q|TAF1_ENST00000373790.4_Missense_Mutation_p.R1224Q|TAF1_ENST00000423759.1_Missense_Mutation_p.R1245Q			P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	1224					G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				CGAAAAGAACGGCGGAGGATT	0.473													24	34					0	0	1	0	0	A	70618475	G	A	70618475	3	1	271	1	0	0	0	0	1	0	0	0	15570	1116	39	1	3828	1	TAF1	23	70618475	Missense_Mutation	SNP	G	TCGA-HT-7693-01A-11D-2253-08	7701301	70618475	84652085	42	27991											
ATRX	546	broad.mit.edu	37	X	76813058	76813058	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chrX:76813058C>T	ENST00000373344.5	-	30	6777	c.6563G>A	c.(6562-6564)cGa>cAa	p.R2188Q	ATRX_ENST00000395603.3_Missense_Mutation_p.R2150Q|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	2188	Helicase C-terminal.				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)	ATCAACAACTCGAAAAGACAG	0.343			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						53	59					0	0	1	0	0	T	76813058	C	T	76813058	3	4	271	1	0	0	0	0	1	0	0	0	1206	884	31	1	939	1	ATRX	23	76813058	Missense_Mutation	SNP	C	TCGA-HT-7693-01A-11D-2253-08	6194583	76813058	78457502	43	27992											
HDX	139324	broad.mit.edu	37	X	83723854	83723854	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chrX:83723854A>G	ENST00000297977.5	-	3	988	c.877T>C	c.(877-879)Tgt>Cgt	p.C293R	HDX_ENST00000373177.2_Missense_Mutation_p.C293R|HDX_ENST00000506585.2_Missense_Mutation_p.C235R	NM_001177479.1|NM_144657.4	NP_001170950.1|NP_653258.2	Q7Z353	HDX_HUMAN	highly divergent homeobox	293						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(12)|liver(1)|lung(19)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						ATGGACAAACAATTTCCTTCT	0.473													9	121					0	0	1	0	0	G	83723854	A	G	83723854	3	3	271	1	0	0	0	0	1	0	0	0	7067	130	5	3	1227	3	HDX	23	83723854	Missense_Mutation	SNP	A	TCGA-HT-7693-01A-11D-2253-08	6910796	83723854	71546706	44	27993											
ALG13	79868	broad.mit.edu	37	X	110952273	110952273	+	Missense_Mutation	SNP	G	G	C			TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chrX:110952273G>C	ENST00000394780.3	+	5	843	c.831G>C	c.(829-831)gaG>gaC	p.E277D	ALG13_ENST00000251943.4_Missense_Mutation_p.E173D|ALG13-AS1_ENST00000430794.1_RNA	NM_001099922.2|NM_001257231.1	NP_001093392.1|NP_001244160.1	Q9NP73	ALG13_HUMAN	ALG13, UDP-N-acetylglucosaminyltransferase subunit	277	OTU.				dolichol-linked oligosaccharide biosynthetic process|lipid glycosylation|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane	carbohydrate binding|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity			endometrium(2)|lung(10)|skin(1)	13						AAACTTTTGAGTCTGTAAGTA	0.388													3	7					0	0	1	0	0	C	110952273	G	C	110952273	3	2	271	1	0	0	0	0	1	0	0	0	512	1020	36	4	991	4	ALG13	23	110952273	Missense_Mutation	SNP	G	TCGA-HT-7693-01A-11D-2253-08	27228419	110952273	44318287	45	27994											
MMGT1	93380	broad.mit.edu	37	X	135047268	135047268	+	Missense_Mutation	SNP	G	G	A	rs150859420		TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chrX:135047268G>A	ENST00000305963.2	-	4	698	c.311C>T	c.(310-312)tCg>tTg	p.S104L	MMGT1_ENST00000433339.2_Missense_Mutation_p.S169L	NM_173470.1	NP_775741.1	Q8N4V1	MMGT1_HUMAN	membrane magnesium transporter 1	104						early endosome membrane|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	magnesium ion transmembrane transporter activity			cervix(1)|endometrium(1)|kidney(1)	3						TGCTGTATCCGAAGGCCGGAA	0.358													31	213					0	0	1	0	0	A	135047268	G	A	135047268	3	1	271	1	0	0	0	0	1	0	0	0	9695	1059	37	1	88	1	MMGT1	23	135047268	Missense_Mutation	SNP	G	TCGA-HT-7693-01A-11D-2253-08	24094995	135047268	20223292	46	27995											
AFF2	2334	broad.mit.edu	37	X	148035253	148035253	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chrX:148035253G>A	ENST00000370460.2	+	10	2020	c.1541G>A	c.(1540-1542)cGt>cAt	p.R514H	AFF2_ENST00000370457.5_Missense_Mutation_p.R481H|AFF2_ENST00000342251.3_Missense_Mutation_p.R481H|AFF2_ENST00000286437.5_Missense_Mutation_p.R155H	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	514					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					GAGGCACCTCGTGTGGCAACT	0.567													75	100					0	0	1	0	0	A	148035253	G	A	148035253	3	1	271	1	0	0	0	0	1	0	0	0	356	1145	40	1	1634	1	AFF2	23	148035253	Missense_Mutation	SNP	G	TCGA-HT-7693-01A-11D-2253-08	12987985	148035253	7235307	47	27996											
F8	2157	broad.mit.edu	37	X	154159216	154159216	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chrX:154159216T>C	ENST00000360256.4	-	14	3049	c.2849A>G	c.(2848-2850)gAg>gGg	p.E950G		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	950	B.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	TCCACCAGACTCAGTAAGGGG	0.373													5	110					0	0	1	0	0	C	154159216	T	C	154159216	3	2	271	1	0	0	0	0	1	0	0	0	5378	1551	54	3	4286	3	F8	23	154159216	Missense_Mutation	SNP	T	TCGA-HT-7693-01A-11D-2253-08	6123963	154159216	1111344	48	27997											
F8	2157	broad.mit.edu	37	X	154250803	154250803	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chrX:154250803A>G	ENST00000360256.4	-	1	225	c.25T>C	c.(25-27)Ttc>Ctc	p.F9L		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	9					acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	CACAGAAAGAAGCAGGTGGAG	0.433													3	129					0	0	1	0	0	G	154250803	A	G	154250803	3	3	271	1	0	0	0	0	1	0	0	0	5378	72	3	3	7162	3	F8	23	154250803	Missense_Mutation	SNP	A	TCGA-HT-7693-01A-11D-2253-08	91587	154250803	1019757	49	27998											
FUBP1	8880	broad.mit.edu	37	1	78422330	78422331	+	Frame_Shift_Del	DEL	AT	AT	-			TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr1:78422330_78422331delAT	ENST00000370767.1	-	17	1718_1719	c.1631_1632delAT	c.(1630-1632)tatfs	p.Y545fs	FUBP1_ENST00000436586.2_Frame_Shift_Del_p.Y566fs|FUBP1_ENST00000370768.2_Frame_Shift_Del_p.Y545fs			Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1	545	Pro-rich.				transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						GCTGTTGATAATAGTGAGCGTA	0.431			"F, N"		oligodendroglioma								36	74	---	---	---	---						-	78422331	AT	-	78422330	7	5	272	1	0	1	0	1	0	0	0	0	6127	108	4	0	318	0	FUBP1	1	78422330	Frame_Shift_Del	DEL	AT	TCGA-HT-7694-01A-11D-2253-08		78422330	170828291	1	27999											
ELTD1	64123	broad.mit.edu	37	1	79383689	79383689	+	Missense_Mutation	SNP	G	G	C			TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr1:79383689G>C	ENST00000370742.3	-	11	1571	c.1508C>G	c.(1507-1509)gCt>gGt	p.A503G		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	503					neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		TGCAAAAGCAGCTAAAAAGAA	0.333													13	102					0	0	1	0	0	C	79383689	G	C	79383689	3	2	272	1	0	0	0	0	1	0	0	0	5112	971	34	4	584	4	ELTD1	1	79383689	Missense_Mutation	SNP	G	TCGA-HT-7694-01A-11D-2253-08	961359	79383689	169866932	2	28000											
CFH	3075	broad.mit.edu	37	1	196694339	196694341	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr1:196694339_196694341delCTC	ENST00000367429.4	+	12	2025_2027	c.1785_1787delCTC	c.(1783-1788)ttctcc>ttc	p.S596del		NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	596	Sushi 10.				complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						TGTTGAAATTCTCCTGCAAACCA	0.394													24	99	---	---	---	---						-	196694341	CTC	-	196694339	7	5	272	1	0	1	0	1	0	0	0	0	3305	912	32	0	1849	0	CFH	1	196694339	In_Frame_Del	DEL	CTC	TCGA-HT-7694-01A-11D-2253-08	117310650	196694339	52556282	3	28001											
RNF144A	9781	broad.mit.edu	37	2	7164513	7164513	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr2:7164513A>G	ENST00000320892.6	+	7	965	c.523A>G	c.(523-525)Atg>Gtg	p.M175V	RNF144A_ENST00000467276.1_3'UTR	NM_014746.3	NP_055561.2	P50876	R144A_HUMAN	ring finger protein 144A	175						Golgi apparatus|integral to membrane	ligase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)	25	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)	all_cancers(51;0.226)		OV - Ovarian serous cystadenocarcinoma(76;0.195)		TGCTTTCAAAATGGAAGAAGA	0.567													20	65					0	0	1	0	0	G	7164513	A	G	7164513	3	3	272	1	0	0	0	0	1	0	0	0	13497	101	4	3	541	3	RNF144A	2	7164513	Missense_Mutation	SNP	A	TCGA-HT-7694-01A-11D-2253-08		7164513	236034860	4	28002											
NBAS	51594	broad.mit.edu	37	2	15523366	15523366	+	Silent	SNP	T	T	C			TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr2:15523366T>C	ENST00000281513.5	-	29	3358	c.3333A>G	c.(3331-3333)acA>acG	p.T1111T	NBAS_ENST00000441750.1_Silent_p.T991T	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	1111										NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						AATCTAGACATGTGTATACAT	0.348													30	90					0	0	1	0	0	C	15523366	T	C	15523366	2	2	272	1	0	0	0	0	0	0	0	1	10234	1451	51	3		3	NBAS	2	15523366	Silent	SNP	T	TCGA-HT-7694-01A-11D-2253-08	8358853	15523366	227676007	5	28003											
APOB	338	broad.mit.edu	37	2	21230343	21230343	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr2:21230343G>A	ENST00000233242.1	-	26	9524	c.9397C>T	c.(9397-9399)Cct>Tct	p.P3133S		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	3133					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	CGCATTTCAGGAATTGTTAAA	0.373													34	119					0	0	1	0	0	A	21230343	G	A	21230343	3	1	272	1	0	0	0	0	1	0	0	0	782	1174	41	2	4310	2	APOB	2	21230343	Missense_Mutation	SNP	G	TCGA-HT-7694-01A-11D-2253-08	5706977	21230343	221969030	6	28004											
WDR92	116143	broad.mit.edu	37	2	68384619	68384619	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr2:68384619C>T	ENST00000406334.3	-	8	1188	c.970G>A	c.(970-972)Ggg>Agg	p.G324R	WDR92_ENST00000295121.6_5'UTR|WDR92_ENST00000492039.2_5'UTR						0																	ACCCAGAGCCCCCAAAAACGG	0.547													9	18					0	0	1	0	0	T	68384619	C	T	68384619	3	4	272	1	0	0	0	0	1	0	0	0	17399	638	22	2		2	WDR92	2	68384619	Missense_Mutation	SNP	C	TCGA-HT-7694-01A-11D-2253-08	47154276	68384619	174814754	7	28005											
PTCD3	55037	broad.mit.edu	37	2	86355071	86355074	+	Frame_Shift_Del	DEL	GCTT	GCTT	-			TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr2:86355071_86355074delGCTT	ENST00000254630.7	+	14	1170_1173	c.1104_1107delGCTT	c.(1102-1107)tcgcttfs	p.SL368fs		NM_017952.5	NP_060422.4	Q96EY7	PTCD3_HUMAN	pentatricopeptide repeat domain 3	368						mitochondrion	protein binding			NS(1)|breast(2)|endometrium(3)|kidney(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)	22						GAGAACCCTCGCTTGCAACATATC	0.333													23	189	---	---	---	---						-	86355074	GCTT	-	86355071	7	5	272	1	0	1	0	1	0	0	0	0	12778	1074	38	0	1158	0	PTCD3	2	86355071	Frame_Shift_Del	DEL	GCTT	TCGA-HT-7694-01A-11D-2253-08	17970452	86355071	156844302	8	28006											
IL1RL2	8808	broad.mit.edu	37	2	102808543	102808543	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr2:102808543C>T	ENST00000264257.2	+	4	578	c.452C>T	c.(451-453)cCg>cTg	p.P151L	IL1RL2_ENST00000481806.1_Intron|IL1RL2_ENST00000539491.1_Missense_Mutation_p.P151L|IL1RL2_ENST00000441515.2_Intron	NM_003854.2	NP_003845.2	Q9HB29	ILRL2_HUMAN	interleukin 1 receptor-like 2	151	Ig-like C2-type 2.				cellular defense response|innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity	p.P151Q(1)		breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|liver(2)|lung(8)|ovary(2)|prostate(1)	26						CTGCACTTCCCGAAGAGTTGT	0.328													3	78					0	0	1	0	0	T	102808543	C	T	102808543	3	4	272	1	0	0	0	0	1	0	0	0	7708	652	23	1	462	1	IL1RL2	2	102808543	Missense_Mutation	SNP	C	TCGA-HT-7694-01A-11D-2253-08	16453472	102808543	140390830	9	28007											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								27	88					0	0	1	0	0	T	209113112	C	T	209113112	3	4	272	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HT-7694-01A-11D-2253-08	106304569	209113112	34086261	10	28008											
TRIP12	9320	broad.mit.edu	37	2	230723871	230723871	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr2:230723871G>A	ENST00000283943.5	-	3	696	c.518C>T	c.(517-519)gCg>gTg	p.A173V	TRIP12_ENST00000543084.1_Missense_Mutation_p.A215V|TRIP12_ENST00000389044.4_Missense_Mutation_p.A215V|TRIP12_ENST00000409677.1_Missense_Mutation_p.A215V|TRIP12_ENST00000389045.3_Intron	NM_001284214.1|NM_004238.1	NP_001271143.1|NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	173					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		GGTAGGTTTCGCAGATCTCTC	0.507													17	45					0	0	1	0	0	A	230723871	G	A	230723871	3	1	272	1	0	0	0	0	1	0	0	0	16617	1087	38	1	5616	1	TRIP12	2	230723871	Missense_Mutation	SNP	G	TCGA-HT-7694-01A-11D-2253-08	21610759	230723871	12475502	11	28009											
RAF1	5894	broad.mit.edu	37	3	12653552	12653552	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr3:12653552G>A	ENST00000251849.4	-	3	656	c.217C>T	c.(217-219)Cga>Tga	p.R73*	RAF1_ENST00000442415.2_Nonsense_Mutation_p.R73*|RAF1_ENST00000542177.1_Intron	NM_002880.3	NP_002871.1	P04049	RAF1_HUMAN	v-raf-1 murine leukemia viral oncogene homolog 1	73	RBD.				activation of MAPKK activity|apoptosis|axon guidance|cell proliferation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of protein complex assembly|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of peptidyl-serine phosphorylation|Ras protein signal transduction|synaptic transmission	cytosol|mitochondrial outer membrane|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity		ESRP1/RAF1(4)|RAF1/DAZL(2)|SRGAP3/RAF1(6)	biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	32					Sorafenib(DB00398)	ATTCCATTTCGCACATTGACC	0.498			T	SRGAP3	pilocytic astrocytoma				Noonan syndrome				5	109					0	0	1	0	0	A	12653552	G	A	12653552	4	1	272	1	0	0	0	0	0	1	0	0	13054	1095	38	1	1789	1	RAF1	3	12653552	Nonsense_Mutation	SNP	G	TCGA-HT-7694-01A-11D-2253-08		12653552	185368878	12	28010											
FBLN2	2199	broad.mit.edu	37	3	13679124	13679124	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr3:13679124C>T	ENST00000404922.3	+	18	3520	c.3401C>T	c.(3400-3402)aCg>aTg	p.T1134M	FBLN2_ENST00000535798.1_Missense_Mutation_p.T1113M|FBLN2_ENST00000492059.1_Missense_Mutation_p.T1134M|FBLN2_ENST00000295760.7_Missense_Mutation_p.T1087M	NM_001004019.1	NP_001004019.1	P98095	FBLN2_HUMAN	fibulin 2	1087	Domain III.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			GCGCGCATCACGCACTACCAG	0.657													7	81					0	0	1	0	0	T	13679124	C	T	13679124	3	4	272	1	0	0	0	0	1	0	0	0	5732	536	19	1	2157	1	FBLN2	3	13679124	Missense_Mutation	SNP	C	TCGA-HT-7694-01A-11D-2253-08	1025572	13679124	184343306	13	28011											
C3orf35	339883	broad.mit.edu	37	3	37458938	37458938	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr3:37458938A>G	ENST00000328376.5	+	5	1160	c.181A>G	c.(181-183)Agt>Ggt	p.S61G	C3orf35_ENST00000481400.1_Intron|C3orf35_ENST00000425932.1_Missense_Mutation_p.S61G|C3orf35_ENST00000426078.1_Missense_Mutation_p.S61G|C3orf35_ENST00000452017.2_Missense_Mutation_p.S61G|C3orf35_ENST00000425564.2_Missense_Mutation_p.S61G	NM_178339.2	NP_848029.2	Q8IVJ8	APRG1_HUMAN	chromosome 3 open reading frame 35	61						integral to membrane				NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|urinary_tract(1)	11						CCTGCAGGGCAGTGCTCAGCA	0.463													26	77					0	0	1	0	0	G	37458938	A	G	37458938	3	3	272	1	0	0	0	0	1	0	0	0	2239	188	7	3	183	3	C3orf35	3	37458938	Missense_Mutation	SNP	A	TCGA-HT-7694-01A-11D-2253-08	23779814	37458938	160563492	14	28012											
MYD88	4615	broad.mit.edu	37	3	38180395	38180395	+	Silent	SNP	G	G	A			TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr3:38180395G>A	ENST00000417037.2	+	1	427	c.243G>A	c.(241-243)gcG>gcA	p.A81A	MYD88_ENST00000424893.1_Silent_p.A81A|MYD88_ENST00000443433.2_Silent_p.A81A|MYD88_ENST00000495303.1_Silent_p.A81A|MYD88_ENST00000396334.3_Silent_p.A81A	NM_001172567.1	NP_001166038.1	Q99836	MYD88_HUMAN	myeloid differentiation primary response 88	68	Death.				3'-UTR-mediated mRNA stabilization|anti-apoptosis|cellular response to mechanical stimulus|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-17 production|positive regulation of interleukin-23 production|positive regulation of interleukin-6 production|regulation of inflammatory response|response to interleukin-1|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|intrinsic to membrane|plasma membrane	death receptor binding|TIR domain binding|transmembrane receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(226)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1)	237				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		AGACACAAGCGGACCCCACTG	0.657			Mis		ABC-DLBCL								3	92					0	0	1	0	0	A	38180395	G	A	38180395	2	1	272	1	0	0	0	0	0	0	0	1	10071	1103	39	1		1	MYD88	3	38180395	Silent	SNP	G	TCGA-HT-7694-01A-11D-2253-08	721457	38180395	159842035	15	28013											
RFT1	91869	broad.mit.edu	37	3	53126463	53126463	+	Silent	SNP	C	C	T			TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr3:53126463C>T	ENST00000296292.3	-	12	1441	c.1380G>A	c.(1378-1380)agG>agA	p.R460R	RFT1_ENST00000394738.3_Silent_p.R421R|RP11-894J14.5_ENST00000607203.1_Intron	NM_052859.3	NP_443091.1	Q96AA3	RFT1_HUMAN	RFT1 homolog (S. cerevisiae)	460					carbohydrate transport|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane	lipid transporter activity			NS(1)|breast(1)|kidney(1)|lung(5)|skin(2)|urinary_tract(2)	12				BRCA - Breast invasive adenocarcinoma(193;6.98e-05)|Kidney(197;0.0017)|KIRC - Kidney renal clear cell carcinoma(197;0.00192)|OV - Ovarian serous cystadenocarcinoma(275;0.104)		CAGCCAGGGGCCTGTGGGGGC	0.592													6	10					0	0	1	0	0	T	53126463	C	T	53126463	2	4	272	1	0	0	0	0	0	0	0	1	13309	738	26	2		2	RFT1	3	53126463	Silent	SNP	C	TCGA-HT-7694-01A-11D-2253-08	14946068	53126463	144895967	16	28014											
TMEM14E	645843	broad.mit.edu	37	3	152058574	152058574	+	Silent	SNP	A	A	G			TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr3:152058574A>G	ENST00000408960.3	-	1	205	c.120T>C	c.(118-120)tcT>tcC	p.S40S	MBNL1_ENST00000492948.1_Intron|MBNL1_ENST00000485910.1_Intron|MBNL1_ENST00000463374.1_Intron|MBNL1_ENST00000498502.1_Intron|MBNL1_ENST00000324196.5_Intron|MBNL1_ENST00000545754.1_Intron|MBNL1_ENST00000485509.1_Intron|MBNL1_ENST00000282488.7_Intron|MBNL1_ENST00000324210.5_Intron|MBNL1_ENST00000493459.1_Intron|MBNL1_ENST00000357472.3_Intron|MBNL1_ENST00000282486.6_Intron|MBNL1_ENST00000355460.2_Intron	NM_001123228.1	NP_001116700.1	Q6UXP3	TM14E_HUMAN	transmembrane protein 14E	40						integral to membrane				lung(1)	1						AGAATCCAGCAGAAGGGGACT	0.488													21	79					0	0	1	0	0	G	152058574	A	G	152058574	2	3	272	1	0	0	0	0	0	0	0	1	16126	175	7	3		3	TMEM14E	3	152058574	Silent	SNP	A	TCGA-HT-7694-01A-11D-2253-08	98932111	152058574	45963856	17	28015											
ACTL6A	86	broad.mit.edu	37	3	179301185	179301186	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr3:179301185_179301186delAC	ENST00000429709.2	+	12	1284_1285	c.1071_1072delAC	c.(1069-1074)atacagfs	p.Q358fs	ACTL6A_ENST00000392662.1_Frame_Shift_Del_p.Q316fs|RP11-15L13.4_ENST00000608818.1_RNA|ACTL6A_ENST00000450518.2_Frame_Shift_Del_p.Q316fs	NM_004301.3	NP_004292.1	O96019	ACL6A_HUMAN	actin-like 6A	358					chromatin remodeling|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|nervous system development|regulation of growth|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	Ino80 complex|npBAF complex|NuA4 histone acetyltransferase complex|plasma membrane|SWI/SNF complex	ATP binding|chromatin binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|urinary_tract(1)	21	all_cancers(143;3.94e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)			ACACACTAATACAGAGTTTTAC	0.347													16	298	---	---	---	---						-	179301186	AC	-	179301185	7	5	272	1	0	1	0	1	0	0	0	0	198	381	14	0	1117	0	ACTL6A	3	179301185	Frame_Shift_Del	DEL	AC	TCGA-HT-7694-01A-11D-2253-08	27242611	179301185	18721245	18	28016											
GNRHR	2798	broad.mit.edu	37	4	68606313	68606313	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr4:68606313C>T	ENST00000226413.4	-	3	896	c.872G>A	c.(871-873)tGg>tAg	p.W291*	UBA6-AS1_ENST00000500538.2_RNA|UBA6-AS1_ENST00000502758.1_RNA|GNRHR_ENST00000420975.2_Silent_p.L248L	NM_000406.2	NP_000397.1	P30968	GNRHR_HUMAN	gonadotropin-releasing hormone receptor	291					multicellular organismal development	integral to plasma membrane	gonadotropin-releasing hormone receptor activity			endometrium(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	13					Abarelix(DB00106)|Cetrorelix(DB00050)|Danazol(DB01406)|Gonadorelin(DB00644)|Leuprolide(DB00007)|Nafarelin(DB00666)	AGGATCAAACCAATACCAAAT	0.403													17	279					0	0	1	0	0	T	68606313	C	T	68606313	4	4	272	1	0	0	0	0	0	1	0	0	6591	595	21	2	118	2	GNRHR	4	68606313	Nonsense_Mutation	SNP	C	TCGA-HT-7694-01A-11D-2253-08		68606313	122547963	19	28017											
ANKRD17	26057	broad.mit.edu	37	4	73963819	73963820	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr4:73963819_73963820delTC	ENST00000358602.4	-	26	5107_5108	c.4991_4992delGA	c.(4990-4992)agafs	p.R1664fs	ANKRD17_ENST00000509867.2_Frame_Shift_Del_p.R1551fs|ANKRD17_ENST00000330838.6_Frame_Shift_Del_p.R1413fs	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	1664	Ser-rich.				interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			AAACAGATTTTCTCTCTTCCTT	0.361													34	183	---	---	---	---						-	73963820	TC	-	73963819	7	5	272	1	0	1	0	1	0	0	0	0	642	1780	62	0	2855	0	ANKRD17	4	73963819	Frame_Shift_Del	DEL	TC	TCGA-HT-7694-01A-11D-2253-08	5357506	73963819	117190457	20	28018											
KLKB1	3818	broad.mit.edu	37	4	187173195	187173195	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr4:187173195G>A	ENST00000264690.6	+	11	1356	c.1169G>A	c.(1168-1170)cGc>cAc	p.R390H	KLKB1_ENST00000513864.1_Missense_Mutation_p.R390H	NM_000892.3	NP_000883.2	P03952	KLKB1_HUMAN	kallikrein B, plasma (Fletcher factor) 1	390					blood coagulation, intrinsic pathway|Factor XII activation|fibrinolysis|plasminogen activation|positive regulation of fibrinolysis	cytoplasm|extracellular space|plasma membrane	serine-type endopeptidase activity	p.R390H(2)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	40		all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168)		ACAAGCACACGCATTGTTGGA	0.502													5	131					0	0	1	0	0	A	187173195	G	A	187173195	3	1	272	1	0	0	0	0	1	0	0	0	8455	1087	38	1	1207	1	KLKB1	4	187173195	Missense_Mutation	SNP	G	TCGA-HT-7694-01A-11D-2253-08	113209376	187173195	3981081	21	28019											
PIK3R1	5295	broad.mit.edu	37	5	67589138	67589138	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr5:67589138G>A	ENST00000521381.1	+	10	1742	c.1126G>A	c.(1126-1128)Gga>Aga	p.G376R	PIK3R1_ENST00000396611.1_Missense_Mutation_p.G376R|PIK3R1_ENST00000523872.1_Missense_Mutation_p.G13R|PIK3R1_ENST00000336483.5_Missense_Mutation_p.G106R|PIK3R1_ENST00000521657.1_Missense_Mutation_p.G376R|PIK3R1_ENST00000320694.8_Missense_Mutation_p.G76R|PIK3R1_ENST00000274335.5_Missense_Mutation_p.G376R	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	376	SH2 1.				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.G376R(5)|p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	CAGGAAAGGGGGAAATAACAA	0.308			"Mis, F, O"		"gliobastoma, ovarian, colorectal"					TCGA GBM(4;<1E-08)			9	60					0	0	1	0	0	A	67589138	G	A	67589138	3	1	272	1	0	0	0	0	1	0	0	0	11966	1233	43	2	1290	2	PIK3R1	5	67589138	Missense_Mutation	SNP	G	TCGA-HT-7694-01A-11D-2253-08		67589138	113326122	22	28020											
TREML2	79865	broad.mit.edu	37	6	41165998	41165998	+	Silent	SNP	G	G	A			TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr6:41165998G>A	ENST00000483722.1	-	2	410	c.225C>T	c.(223-225)ccC>ccT	p.P75P		NM_024807.2	NP_079083.2	Q5T2D2	TRML2_HUMAN	triggering receptor expressed on myeloid cells-like 2	75	Ig-like V-type.				T cell activation	cell surface|integral to membrane|plasma membrane	protein binding|receptor activity			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)	18	Ovarian(28;0.0418)|Colorectal(47;0.196)					GCAAGTAGCGGGGCCCTTTCA	0.572													11	177					0	0	1	0	0	A	41165998	G	A	41165998	2	1	272	1	0	0	0	0	0	0	0	1	16534	1219	43	2		2	TREML2	6	41165998	Silent	SNP	G	TCGA-HT-7694-01A-11D-2253-08		41165998	129949069	23	28021											
DST	667	broad.mit.edu	37	6	56472643	56472645	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr6:56472643_56472645delAAG	ENST00000370754.5	-	39	6681_6683	c.6682_6684delCTT	c.(6682-6684)cttdel	p.L2228del	DST_ENST00000312431.6_In_Frame_Del_p.L2050del|DST_ENST00000244364.6_Intron|DST_ENST00000446842.2_In_Frame_Del_p.L1724del|DST_ENST00000370788.2_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000370769.4_In_Frame_Del_p.L2050del|DST_ENST00000361203.3_In_Frame_Del_p.L2050del			Q03001	DYST_HUMAN	dystonin	2050					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			AAGCATTATTAAGAAATACACCA	0.404													53	167	---	---	---	---						-	56472645	AAG	-	56472643	7	5	272	1	0	1	0	1	0	0	0	0	4809	377	13	0		0	DST	6	56472643	In_Frame_Del	DEL	AAG	TCGA-HT-7694-01A-11D-2253-08	15306645	56472643	114642424	24	28022											
FILIP1	27145	broad.mit.edu	37	6	76023092	76023092	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr6:76023092G>A	ENST00000393004.2	-	5	2677	c.2456C>T	c.(2455-2457)aCg>aTg	p.T819M	FILIP1_ENST00000237172.7_Missense_Mutation_p.T819M|FILIP1_ENST00000498523.1_5'UTR|FILIP1_ENST00000370020.1_Missense_Mutation_p.T720M			Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	819										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						TACAGCTGGCGTTTCTTCCTC	0.463													9	288					0	0	1	0	0	A	76023092	G	A	76023092	3	1	272	1	0	0	0	0	1	0	0	0	5927	1145	40	1	1193	1	FILIP1	6	76023092	Missense_Mutation	SNP	G	TCGA-HT-7694-01A-11D-2253-08	19550449	76023092	95091975	25	28023											
SLC35A1	10559	broad.mit.edu	37	6	88187186	88187186	+	Silent	SNP	C	C	G			TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr6:88187186C>G	ENST00000369552.4	+	2	150	c.123C>G	c.(121-123)ctC>ctG	p.L41L	C6orf165_ENST00000506888.1_3'UTR|SLC35A1_ENST00000369556.3_Silent_p.L41L|C6orf165_ENST00000507897.1_3'UTR|SLC35A1_ENST00000464978.1_3'UTR|SLC35A1_ENST00000369557.5_Silent_p.L41L|SLC35A1_ENST00000544441.1_5'UTR	NM_006416.4	NP_006407.1	P78382	S35A1_HUMAN	solute carrier family 35 (CMP-sialic acid transporter), member A1	41					carbohydrate metabolic process|protein modification process	Golgi membrane|integral to plasma membrane	CMP-N-acetylneuraminate transmembrane transporter activity|sugar:hydrogen symporter activity			breast(1)|kidney(3)|large_intestine(2)|lung(3)	9		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0429)		ACAAAGAACTCTACTTTTCAA	0.358													6	114					0	0	1	0	0	G	88187186	C	G	88187186	2	3	272	1	0	0	0	0	0	0	0	1	14625	900	32	4		4	SLC35A1	6	88187186	Silent	SNP	C	TCGA-HT-7694-01A-11D-2253-08	12164094	88187186	82927881	26	28024											
COQ3	51805	broad.mit.edu	37	6	99817516	99817516	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr6:99817516G>A	ENST00000254759.3	-	7	1094	c.1070C>T	c.(1069-1071)gCc>gTc	p.A357V	COQ3_ENST00000369240.1_Missense_Mutation_p.A129V|COQ3_ENST00000369242.1_Missense_Mutation_p.A129V	NM_017421.3	NP_059117.3	Q9NZJ6	COQ3_HUMAN	coenzyme Q3 methyltransferase	357					glycerol metabolic process|ubiquinone biosynthetic process	mitochondrial matrix	2-polyprenyl-6-methoxy-1,4-benzoquinone methyltransferase activity|3-demethylubiquinone-9 3-O-methyltransferase activity|hexaprenyldihydroxybenzoate methyltransferase activity			cervix(1)|lung(5)|upper_aerodigestive_tract(2)	8		all_cancers(76;1.24e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.00716)|Colorectal(196;0.0691)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.0625)		ATTGGTGCAGGCATTAGCTTG	0.403													42	182					0	0	1	0	0	A	99817516	G	A	99817516	3	1	272	1	0	0	0	0	1	0	0	0	3769	1203	42	2	43	2	COQ3	6	99817516	Missense_Mutation	SNP	G	TCGA-HT-7694-01A-11D-2253-08	11630330	99817516	71297551	27	28025											
HDAC2	3066	broad.mit.edu	37	6	114270202	114270203	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr6:114270202_114270203delTG	ENST00000519065.1	-	8	1157_1158	c.781_782delCA	c.(781-783)cagfs	p.Q261fs	HDAC2_ENST00000398283.2_Frame_Shift_Del_p.Q355fs|HDAC2_ENST00000519108.1_Frame_Shift_Del_p.Q231fs|HDAC2_ENST00000368632.2_Frame_Shift_Del_p.Q231fs			Q92769	HDAC2_HUMAN	histone deacetylase 2	261	Histone deacetylase.				blood coagulation|dendrite development|embryonic digit morphogenesis|epidermal cell differentiation|eyelid development in camera-type eye|fungiform papilla formation|hair follicle placode formation|maintenance of chromatin silencing|negative regulation of apoptosis|negative regulation of cell cycle|negative regulation of neuron projection development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|odontogenesis of dentine-containing tooth|positive regulation of cell proliferation|positive regulation of proteolysis|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|ESC/E(Z) complex|NuRD complex|Sin3 complex	chromatin binding|enzyme binding|histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|sequence-specific DNA binding|transcription factor binding	p.Q261P(1)		biliary_tract(1)|central_nervous_system(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(2)	27		all_cancers(87;0.000629)|all_epithelial(87;0.00274)|Colorectal(196;0.0317)|all_lung(197;0.24)		all cancers(137;0.00318)|OV - Ovarian serous cystadenocarcinoma(136;0.00569)|Epithelial(106;0.0112)|GBM - Glioblastoma multiforme(226;0.0832)	Vorinostat(DB02546)	TGCACCACACTGTAATACCACA	0.371													7	322	---	---	---	---						-	114270203	TG	-	114270202	7	5	272	1	0	1	0	1	0	0	0	0	7048	1580	55	0	712	0	HDAC2	6	114270202	Frame_Shift_Del	DEL	TG	TCGA-HT-7694-01A-11D-2253-08	14452686	114270202	56844865	28	28026											
FUCA2	2519	broad.mit.edu	37	6	143823670	143823670	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr6:143823670C>T	ENST00000002165.6	-	4	840	c.785G>A	c.(784-786)cGt>cAt	p.R262H	FUCA2_ENST00000438118.2_Intron|RP1-20N2.6_ENST00000591892.1_RNA|FUCA2_ENST00000367585.1_Intron|RP1-20N2.6_ENST00000589563.1_RNA|RP1-20N2.6_ENST00000610068.1_RNA	NM_032020.4	NP_114409.2	Q9BTY2	FUCO2_HUMAN	fucosidase, alpha-L- 2, plasma						fucose metabolic process	extracellular region	alpha-L-fucosidase activity|cation binding			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9				OV - Ovarian serous cystadenocarcinoma(155;7.45e-06)|GBM - Glioblastoma multiforme(68;0.0142)		AGCTCCCCAACGATCATTGGT	0.403													16	121					0	0	1	0	0	T	143823670	C	T	143823670	3	4	272	1	0	0	0	0	1	0	0	0	6130	536	19	1	634	1	FUCA2	6	143823670	Missense_Mutation	SNP	C	TCGA-HT-7694-01A-11D-2253-08	29553468	143823670	27291397	29	28027											
NEUROD6	63974	broad.mit.edu	37	7	31378576	31378577	+	Frame_Shift_Del	DEL	CG	CG	-			TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr7:31378576_31378577delCG	ENST00000297142.3	-	2	628_629	c.306_307delCG	c.(304-309)cgcgagfs	p.E103fs		NM_022728.2	NP_073565.2	Q96NK8	NDF6_HUMAN	neuronal differentiation 6	103					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	32						CTGTTCCTCTCGCGCGCGTTCG	0.47													8	316	---	---	---	---						-	31378577	CG	-	31378576	7	5	272	1	0	1	0	1	0	0	0	0	10398	893	31	0	710	0	NEUROD6	7	31378576	Frame_Shift_Del	DEL	CG	TCGA-HT-7694-01A-11D-2253-08		31378576	127760087	30	28028											
CLIP2	7461	broad.mit.edu	37	7	73795186	73795187	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr7:73795186_73795187delTG	ENST00000223398.6	+	11	2799_2800	c.2472_2473delTG	c.(2470-2475)actgtgfs	p.V825fs	CLIP2_ENST00000361545.5_Frame_Shift_Del_p.V790fs|CLIP2_ENST00000395060.1_Frame_Shift_Del_p.V825fs	NM_003388.4	NP_003379	Q9UDT6	CLIP2_HUMAN	CAP-GLY domain containing linker protein 2	825						microtubule associated complex				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						CGAAGGAAACTGTGGAGGGTGA	0.579													63	199	---	---	---	---						-	73795187	TG	-	73795186	7	5	272	1	0	1	0	1	0	0	0	0	3556	1567	55	0	2510	0	CLIP2	7	73795186	Frame_Shift_Del	DEL	TG	TCGA-HT-7694-01A-11D-2253-08	42416610	73795186	85343477	31	28029											
TSC22D4	81628	broad.mit.edu	37	7	100064672	100064672	+	Silent	SNP	G	G	T			TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr7:100064672G>T	ENST00000300181.2	-	5	1852	c.1098C>A	c.(1096-1098)cgC>cgA	p.R366R	TSC22D4_ENST00000496728.1_Intron|TSC22D4_ENST00000393991.1_Silent_p.R127R	NM_030935.3	NP_112197.1	Q9Y3Q8	T22D4_HUMAN	TSC22 domain family, member 4	366					negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|urinary_tract(1)	8	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TGGCCAGGGCGCGCAGCAGCC	0.697													4	22					0.150653	0.156931	1	1	0	T	100064672	G	T	100064672	2	4	272	1	0	0	0	0	0	0	0	1	16671	1074	38	5		5	TSC22D4	7	100064672	Silent	SNP	G	TCGA-HT-7694-01A-11D-2253-08	26269486	100064672	59073991	32	28030											
MYL10	93408	broad.mit.edu	37	7	101267513	101267513	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr7:101267513C>T	ENST00000223167.4	-	2	287	c.110G>A	c.(109-111)gGc>gAc	p.G37D		NM_138403.4	NP_612412.2	Q9BUA6	MYL10_HUMAN	myosin, light chain 10, regulatory	37						mitochondrion	calcium ion binding			breast(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	12						GCTGGCGGTGCCTTCTGCTCT	0.587													21	64					0	0	1	0	0	T	101267513	C	T	101267513	3	4	272	1	0	0	0	0	1	0	0	0	10092	739	26	2	598	2	MYL10	7	101267513	Missense_Mutation	SNP	C	TCGA-HT-7694-01A-11D-2253-08	1202841	101267513	57871150	33	28031											
OLFML2A	169611	broad.mit.edu	37	9	127572530	127572530	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr9:127572530T>C	ENST00000373580.3	+	8	1798	c.1798T>C	c.(1798-1800)Tac>Cac	p.Y600H	OLFML2A_ENST00000288815.5_Missense_Mutation_p.Y386H	NM_182487.2	NP_872293.2	Q68BL7	OLM2A_HUMAN	olfactomedin-like 2A	600	Olfactomedin-like.									endometrium(5)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	25						CCAGGTCGCCTACGCTTTCGA	0.637													19	59					0	0	1	0	0	C	127572530	T	C	127572530	3	2	272	1	0	0	0	0	1	0	0	0	10905	1522	53	3	1828	3	OLFML2A	9	127572530	Missense_Mutation	SNP	T	TCGA-HT-7694-01A-11D-2253-08		127572530	13640901	34	28032											
FCN1	2219	broad.mit.edu	37	9	137804960	137804960	+	Silent	SNP	G	G	T			TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr9:137804960G>T	ENST00000371806.3	-	6	461	c.370C>A	c.(370-372)Cgg>Agg	p.R124R		NM_002003.3	NP_001994.2	O00602	FCN1_HUMAN	ficolin (collagen/fibrinogen domain containing) 1	124	Fibrinogen C-terminal.				opsonization|signal transduction	collagen|extracellular space	antigen binding|calcium ion binding|receptor binding|sugar binding			endometrium(3)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	37		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.46e-08)|Epithelial(140;6.01e-08)|all cancers(34;3.69e-07)		AAATACCCCCGGTCTAGCAGG	0.682													3	44					1	1	1	1	0	T	137804960	G	T	137804960	2	4	272	1	0	0	0	0	0	0	0	1	5824	1115	39	5		5	FCN1	9	137804960	Silent	SNP	G	TCGA-HT-7694-01A-11D-2253-08	10232430	137804960	3408471	35	28033											
VDAC2	7417	broad.mit.edu	37	10	76980618	76980618	+	Silent	SNP	G	G	A			TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr10:76980618G>A	ENST00000535553.1	+	8	713	c.357G>A	c.(355-357)gaG>gaA	p.E119E	VDAC2_ENST00000332211.6_Silent_p.E158E|VDAC2_ENST00000472137.1_3'UTR|VDAC2_ENST00000543351.1_Silent_p.E158E|VDAC2_ENST00000313132.4_Silent_p.E173E			P45880	VDAC2_HUMAN	voltage-dependent anion channel 2	158						mitochondrial nucleoid|mitochondrial outer membrane|pore complex	nucleotide binding|porin activity|protein binding|voltage-gated anion channel activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(1)|ovary(1)|pancreas(2)|prostate(1)|urinary_tract(1)	10	all_cancers(46;0.0642)|all_epithelial(25;0.00604)|Prostate(51;0.0112)|Ovarian(15;0.183)				Dihydroxyaluminium(DB01375)	TTGGTTATGAGGGCTGGCTTG	0.468													12	44					0	0	1	0	0	A	76980618	G	A	76980618	2	1	272	1	0	0	0	0	0	0	0	1	17207	991	35	2		2	VDAC2	10	76980618	Silent	SNP	G	TCGA-HT-7694-01A-11D-2253-08		76980618	58554129	36	28034											
GLUD1	2746	broad.mit.edu	37	10	88835744	88835744	+	Missense_Mutation	SNP	A	A	C			TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr10:88835744A>C	ENST00000277865.4	-	3	659	c.563T>G	c.(562-564)aTc>aGc	p.I188S	GLUD1_ENST00000544149.1_Missense_Mutation_p.I55S|GLUD1_ENST00000537649.1_Missense_Mutation_p.I21S	NM_005271.3	NP_005262.1	P00367	DHE3_HUMAN	glutamate dehydrogenase 1	188					glutamate biosynthetic process|glutamate catabolic process|positive regulation of insulin secretion	mitochondrial matrix	ADP binding|ATP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|identical protein binding|leucine binding|NAD+ binding			endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(11)|prostate(1)	22					L-Glutamic Acid(DB00142)|NADH(DB00157)	CTTGGGATTGATCTTAACACC	0.353													22	127					0	0	1	0	0	C	88835744	A	C	88835744	3	2	272	1	0	0	0	0	1	0	0	0	6518	333	12	4	1157	4	GLUD1	10	88835744	Missense_Mutation	SNP	A	TCGA-HT-7694-01A-11D-2253-08	11855126	88835744	46699003	37	28035											
ANO3	63982	broad.mit.edu	37	11	26663556	26663556	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr11:26663556T>C	ENST00000256737.3	+	22	3107	c.2255T>C	c.(2254-2256)aTg>aCg	p.M752T	ANO3_ENST00000531568.1_Missense_Mutation_p.M606T|ANO3_ENST00000525139.1_Missense_Mutation_p.M736T|ANO3_ENST00000537978.1_Missense_Mutation_p.M736T	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	752						chloride channel complex	chloride channel activity			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						CATGGACTGATGGATGAGTAC	0.413													4	105					0	0	1	0	0	C	26663556	T	C	26663556	3	2	272	1	0	0	0	0	1	0	0	0	692	1464	51	3	2341	3	ANO3	11	26663556	Missense_Mutation	SNP	T	TCGA-HT-7694-01A-11D-2253-08		26663556	108342960	38	28036											
OTUB1	55611	broad.mit.edu	37	11	63764577	63764579	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr11:63764577_63764579delCCT	ENST00000541478.1	+	3	636_638	c.176_178delCCT	c.(175-180)gcctcc>gcc	p.S60del	OTUB1_ENST00000535715.1_In_Frame_Del_p.S161del|OTUB1_ENST00000543988.1_In_Frame_Del_p.S131del|OTUB1_ENST00000543004.1_In_Frame_Del_p.S170del|OTUB1_ENST00000428192.2_In_Frame_Del_p.S161del|OTUB1_ENST00000538426.1_In_Frame_Del_p.S161del|OTUB1_ENST00000422031.2_In_Frame_Del_p.S198del			Q96FW1	OTUB1_HUMAN	OTU domain, ubiquitin aldehyde binding 1	161					protein K48-linked deubiquitination	cytoplasm	NEDD8-specific protease activity|omega peptidase activity|ubiquitin binding|ubiquitin-specific protease activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)	6						GACCTGCTGGCCTCCTTCAATGA	0.591													50	258	---	---	---	---						-	63764579	CCT	-	63764577	7	5	272	1	0	1	0	1	0	0	0	0	11358	739	26	0	501	0	OTUB1	11	63764577	In_Frame_Del	DEL	CCT	TCGA-HT-7694-01A-11D-2253-08	37101021	63764577	71241939	39	28037											
CREBZF	58487	broad.mit.edu	37	11	85375242	85375244	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr11:85375242_85375244delCTT	ENST00000527447.1	-	1	902_904	c.676_678delAAG	c.(676-678)aagdel	p.K226del	CREBZF_ENST00000534224.1_Intron|CREBZF_ENST00000531515.1_Intron|CREBZF_ENST00000398294.2_In_Frame_Del_p.K144del	NM_001039618.2	NP_001034707.1	Q9NS37	ZHANG_HUMAN	CREB/ATF bZIP transcription factor	226					negative regulation of gene expression, epigenetic|negative regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|response to virus	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.K226delK(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	9		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)				TCACGTACTCCTTCTTCTTCAGT	0.665											OREG0021274	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	219	---	---	---	---						-	85375244	CTT	-	85375242	7	5	272	1	0	1	0	1	0	0	0	0	3886	680	24	0	390	0	CREBZF	11	85375242	In_Frame_Del	DEL	CTT	TCGA-HT-7694-01A-11D-2253-08	21610665	85375242	49631274	40	28038											
H3F3C	440093	broad.mit.edu	37	12	31944718	31944718	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr12:31944718C>T	ENST00000340398.3	-	1	457	c.383G>A	c.(382-384)cGc>cAc	p.R128H		NM_001013699.2	NP_001013721.2	Q6NXT2	H3C_HUMAN	H3 histone, family 3C	128					nucleosome assembly	nucleosome|nucleus	DNA binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	18						CCGTATCCGGCGAGCCAACTG	0.443										HNSCC(67;0.2)			27	151					0	0	1	0	0	T	31944718	C	T	31944718	3	4	272	1	0	0	0	0	1	0	0	0	6976	768	27	1	28	1	H3F3C	12	31944718	Missense_Mutation	SNP	C	TCGA-HT-7694-01A-11D-2253-08		31944718	101907177	41	28039											
HAUS4	54930	broad.mit.edu	37	14	23416936	23416936	+	Missense_Mutation	SNP	A	A	C			TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr14:23416936A>C	ENST00000206474.7	-	8	965	c.713T>G	c.(712-714)cTt>cGt	p.L238R	HAUS4_ENST00000490506.1_Missense_Mutation_p.L114R|HAUS4_ENST00000555986.1_Missense_Mutation_p.L193R|HAUS4_ENST00000347758.2_Missense_Mutation_p.L112R|HAUS4_ENST00000397409.4_Missense_Mutation_p.L112R|HAUS4_ENST00000554446.1_5'UTR|RP11-298I3.1_ENST00000548322.1_RNA|HAUS4_ENST00000342454.8_Missense_Mutation_p.L193R|RP11-298I3.1_ENST00000548819.1_RNA|HAUS4_ENST00000541587.1_Missense_Mutation_p.L238R|HAUS4_ENST00000555367.1_Missense_Mutation_p.L193R|RP11-298I3.5_ENST00000555074.1_Silent_p.A67A			Q9H6D7	HAUS4_HUMAN	HAUS augmin-like complex, subunit 4	238					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle				breast(3)|cervix(1)|endometrium(2)|lung(6)|ovary(1)|skin(1)	14						GCAGCGGAGAAGCACCTGAGC	0.507													27	85					0	0	1	0	0	C	23416936	A	C	23416936	3	2	272	1	0	0	0	0	1	0	0	0	7009	72	3	5	390	5	HAUS4	14	23416936	Missense_Mutation	SNP	A	TCGA-HT-7694-01A-11D-2253-08		23416936	83932604	42	28040											
SIN3A	25942	broad.mit.edu	37	15	75682071	75682090	+	Frame_Shift_Del	DEL	ATCTTCATACTGTGATGAGT	ATCTTCATACTGTGATGAGT	-			TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr15:75682071_75682090delATCTTCATACTGTGATGAGT	ENST00000394947.3	-	16	3238_3257	c.2924_2943delACTCATCACAGTATGAAGAT	c.(2923-2943)gactcatcacagtatgaagatfs	p.DSSQYED975fs	SIN3A_ENST00000394949.4_Frame_Shift_Del_p.DSSQYED975fs|SIN3A_ENST00000360439.4_Frame_Shift_Del_p.DSSQYED975fs	NM_001145358.1	NP_001138830.1	Q96ST3	SIN3A_HUMAN	SIN3 transcription regulator family member A	975					blood coagulation|cellular lipid metabolic process|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|Sin3 complex	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	63						CTCTCAGTGAATCTTCATACTGTGATGAGTCTATGTTGCC	0.491													10	188	---	---	---	---						-	75682090	ATCTTCATACTGTGATGAGT	-	75682071	7	5	272	1	0	1	0	1	0	0	0	0	14380	98	4	0	902	0	SIN3A	15	75682071	Frame_Shift_Del	DEL	ATCTTCATACTGTGATGAGT	TCGA-HT-7694-01A-11D-2253-08		75682071	26849321	43	28041											
KIAA1024	23251	broad.mit.edu	37	15	79748620	79748620	+	Missense_Mutation	SNP	C	C	A			TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr15:79748620C>A	ENST00000305428.3	+	2	206	c.131C>A	c.(130-132)gCc>gAc	p.A44D		NM_015206.2	NP_056021.1	Q9UPX6	K1024_HUMAN	KIAA1024	44						integral to membrane				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						TCGCAGCTTGCCAAACTGAGA	0.468													34	104					4.32679e-17	4.80755e-17	1	1	0	A	79748620	C	A	79748620	3	1	272	1	0	0	0	0	1	0	0	0	8247	739	26	5	133	5	KIAA1024	15	79748620	Missense_Mutation	SNP	C	TCGA-HT-7694-01A-11D-2253-08	4066549	79748620	22782772	44	28042											
PDP2	57546	broad.mit.edu	37	16	66919405	66919405	+	Silent	SNP	C	C	T			TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr16:66919405C>T	ENST00000311765.2	+	2	1552	c.1218C>T	c.(1216-1218)ttC>ttT	p.F406F	PDP2_ENST00000568720.1_Intron	NM_020786.2	NP_065837.1	Q9P2J9	PDP2_HUMAN	pyruvate dehyrogenase phosphatase catalytic subunit 2	406					pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix|protein serine/threonine phosphatase complex	[pyruvate dehydrogenase (lipoamide)] phosphatase activity|metal ion binding			kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	12		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.088)|Epithelial(162;0.204)		AGGATAAGTTCCTTGTGCTGG	0.567													38	94					0	0	1	0	0	T	66919405	C	T	66919405	2	4	272	1	0	0	0	0	0	0	0	1	11733	854	30	2		2	PDP2	16	66919405	Silent	SNP	C	TCGA-HT-7694-01A-11D-2253-08		66919405	23435348	45	28043											
NCOR1	9611	broad.mit.edu	37	17	15978996	15978996	+	Silent	SNP	C	C	T			TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr17:15978996C>T	ENST00000268712.3	-	27	3779	c.3522G>A	c.(3520-3522)caG>caA	p.Q1174Q	NCOR1_ENST00000395851.1_Silent_p.Q1190Q|NCOR1_ENST00000395857.3_Intron	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	1174	Interaction with ETO.				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		GTATGCCAGTCTGGGGCAGAG	0.493													5	114					0	0	1	0	0	T	15978996	C	T	15978996	2	4	272	1	0	0	0	0	0	0	0	1	10282	912	32	2		2	NCOR1	17	15978996	Silent	SNP	C	TCGA-HT-7694-01A-11D-2253-08		15978996	65216214	46	28044											
RBBP8	5932	broad.mit.edu	37	18	20602227	20602227	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr18:20602227G>A	ENST00000399725.2	+	17	2910	c.2493G>A	c.(2491-2493)tgG>tgA	p.W831*	RBBP8_ENST00000581687.1_Missense_Mutation_p.E42K|RBBP8_ENST00000360790.5_Missense_Mutation_p.E869K|RBBP8_ENST00000399722.2_Missense_Mutation_p.E864K|RBBP8_ENST00000327155.5_Missense_Mutation_p.E864K	NM_203292.1	NP_976037.1	Q99708	COM1_HUMAN	retinoblastoma binding protein 8	0					cell cycle checkpoint|DNA double-strand break processing involved in repair via single-strand annealing|meiosis|regulation of transcription from RNA polymerase II promoter	nucleus	damaged DNA binding|protein binding|single-stranded DNA specific endodeoxyribonuclease activity			central_nervous_system(1)|cervix(2)|endometrium(5)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	24	all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19)		OV - Ovarian serous cystadenocarcinoma(1;0.00196)			GACTTGTATGGAAAGAGGTGA	0.418								Homologous recombination					22	96					0	0	1	0	0	A	20602227	G	A	20602227	4	1	272	1	0	0	0	0	0	1	0	0	13157	1184	41	2	2656	2	RBBP8	18	20602227	Nonsense_Mutation	SNP	G	TCGA-HT-7694-01A-11D-2253-08		20602227	57475021	47	28045											
LTBP4	8425	broad.mit.edu	37	19	41125346	41125346	+	Silent	SNP	G	G	T			TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr19:41125346G>T	ENST00000308370.7	+	26	3363	c.3363G>T	c.(3361-3363)ccG>ccT	p.P1121P	LTBP4_ENST00000602240.1_3'UTR|LTBP4_ENST00000204005.9_Silent_p.P1084P|LTBP4_ENST00000545697.1_Silent_p.P489P|LTBP4_ENST00000396819.3_Silent_p.P1054P|LTBP4_ENST00000243562.9_Silent_p.P175P	NM_001042544.1	NP_001036009.1	Q8N2S1	LTBP4_HUMAN	latent transforming growth factor beta binding protein 4	1122	Pro-rich.				growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity			central_nervous_system(1)	1			Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CCAACAGCCCGGAAGAGTTTG	0.532													3	67					1	1	1	1	0	T	41125346	G	T	41125346	2	4	272	1	0	0	0	0	0	0	0	1	9121	1103	39	5		5	LTBP4	19	41125346	Silent	SNP	G	TCGA-HT-7694-01A-11D-2253-08		41125346	18003637	48	28046											
CIC	23152	broad.mit.edu	37	19	42793443	42793444	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr19:42793443_42793444insC	ENST00000572681.2	+	9	4040_4041	c.3972_3973insC	c.(3973-3975)cccfs	p.P1325fs	CIC_ENST00000575354.2_Frame_Shift_Ins_p.P416fs|CIC_ENST00000160740.3_Frame_Shift_Ins_p.P416fs			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	416					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CCACTGGGCGGCCCCCGCTGCT	0.644			"Mis, F, S"		oligodendroglioma								14	45	---	---	---	---						C	42793444	-	C	42793443	7	5	272	1	0	1	1	0	0	0	0	0	3446	1190	42	0	1275	0	CIC	19	42793443	Frame_Shift_Ins	INS	-	TCGA-HT-7694-01A-11D-2253-08	1668097	42793443	16335540	49	28047											
GIPR	2696	broad.mit.edu	37	19	46180213	46180213	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr19:46180213G>A	ENST00000590918.1	+	8	739	c.640G>A	c.(640-642)Gct>Act	p.A214T	GIPR_ENST00000263281.3_Missense_Mutation_p.A214T|GIPR_ENST00000304207.8_Missense_Mutation_p.A178T	NM_000164.2	NP_000155.1	P48546	GIPR_HUMAN	gastric inhibitory polypeptide receptor	214					generation of precursor metabolites and energy|response to nutrient	integral to membrane|plasma membrane				endometrium(1)|kidney(2)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	12		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0056)|GBM - Glioblastoma multiforme(486;0.0832)|Epithelial(262;0.199)		CTAGGCCCTCGCTGCCTGCCG	0.662													3	62					0	0	1	0	0	A	46180213	G	A	46180213	3	1	272	1	0	0	0	0	1	0	0	0	6437	1087	38	1	666	1	GIPR	19	46180213	Missense_Mutation	SNP	G	TCGA-HT-7694-01A-11D-2253-08	3386770	46180213	12948770	50	28048											
PANK2	80025	broad.mit.edu	37	20	3891325	3891328	+	Frame_Shift_Del	DEL	TTAC	TTAC	-			TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr20:3891325_3891328delTTAC	ENST00000497424.1	+	3	521_524	c.210_213delTTAC	c.(208-213)tattacfs	p.YY70fs	PANK2_ENST00000316562.4_Frame_Shift_Del_p.YY361fs|PANK2_ENST00000464452.1_3'UTR|PANK2_ENST00000610179.1_Frame_Shift_Del_p.YY238fs	NM_024960.4|NM_153640.2	NP_079236.3|NP_705904.1	Q9BZ23	PANK2_HUMAN	pantothenate kinase 2	361					cell death|coenzyme A biosynthetic process|pantothenate metabolic process	mitochondrial intermembrane space|nucleus	ATP binding|pantothenate kinase activity|protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						CACAGTGCTATTACTTTGAAAACC	0.402													11	155	---	---	---	---						-	3891328	TTAC	-	3891325	7	5	272	1	0	1	0	1	0	0	0	0	11464	1500	52	0	1093	0	PANK2	20	3891325	Frame_Shift_Del	DEL	TTAC	TCGA-HT-7694-01A-11D-2253-08		3891325	59134195	51	28049											
MAST2	23139	broad.mit.edu	37	1	46497240	46497240	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HT-7695-01A-11D-2253-08	TCGA-HT-7695-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86386b36-2950-4479-b79f-4b347053c8bc	04911942-c9a9-473f-93d5-79c0c14944ac	g.chr1:46497240C>A	ENST00000361297.2	+	24	3453	c.3170C>A	c.(3169-3171)tCa>tAa	p.S1057*	MAST2_ENST00000372009.2_Nonsense_Mutation_p.S987*	NM_015112.2	NP_055927.2	Q6P0Q8	MAST2_HUMAN	microtubule associated serine/threonine kinase 2	1057					regulation of interleukin-12 biosynthetic process|spermatid differentiation	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity			breast(1)|lung(3)|ovary(5)|stomach(2)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)					ACAGCCCTCTCACTCCTCATT	0.607													3	42					0.00909568	0.00909568	1	1	0	A	46497240	C	A	46497240	4	1	273	1	0	0	0	0	0	1	0	0	9375	838	29	5	3264	5	MAST2	1	46497240	Nonsense_Mutation	SNP	C	TCGA-HT-7695-01A-11D-2253-08		46497240	202753381	1	28050											
GBP5	115362	broad.mit.edu	37	1	89730624	89730624	+	Silent	SNP	A	A	G			TCGA-HT-7695-01A-11D-2253-08	TCGA-HT-7695-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86386b36-2950-4479-b79f-4b347053c8bc	04911942-c9a9-473f-93d5-79c0c14944ac	g.chr1:89730624A>G	ENST00000343435.5	-	8	1430	c.894T>C	c.(892-894)taT>taC	p.Y298Y	GBP5_ENST00000370459.3_Silent_p.Y298Y|RP4-620F22.2_ENST00000437128.1_RNA	NM_001134486.2|NM_052942.3	NP_001127958.1|NP_443174.1	Q96PP8	GBP5_HUMAN	guanylate binding protein 5	298						plasma membrane	GTP binding|GTPase activity			breast(1)|endometrium(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)	24				all cancers(265;0.00784)|Epithelial(280;0.0286)		TGGCATTGACATAGGTCAGCA	0.448													31	18					0	0	1	0	0	G	89730624	A	G	89730624	2	3	273	1	0	0	0	0	0	0	0	1	6317	224	8	3		3	GBP5	1	89730624	Silent	SNP	A	TCGA-HT-7695-01A-11D-2253-08	43233384	89730624	159519997	2	28051											
ASXL2	55252	broad.mit.edu	37	2	25972673	25972673	+	Silent	SNP	C	C	T			TCGA-HT-7695-01A-11D-2253-08	TCGA-HT-7695-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86386b36-2950-4479-b79f-4b347053c8bc	04911942-c9a9-473f-93d5-79c0c14944ac	g.chr2:25972673C>T	ENST00000435504.4	-	12	2045	c.1752G>A	c.(1750-1752)agG>agA	p.R584R	ASXL2_ENST00000272341.4_Silent_p.R324R|ASXL2_ENST00000404843.1_Silent_p.R324R|ASXL2_ENST00000336112.4_Silent_p.R556R			Q76L83	ASXL2_HUMAN	additional sex combs like 2 (Drosophila)	584					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGACACGTGGCCTCTTCTCCC	0.532													9	28					0	0	1	0	0	T	25972673	C	T	25972673	2	4	273	1	0	0	0	0	0	0	0	1	1066	738	26	2		2	ASXL2	2	25972673	Silent	SNP	C	TCGA-HT-7695-01A-11D-2253-08		25972673	217226700	3	28052											
OTOF	9381	broad.mit.edu	37	2	26688556	26688556	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7695-01A-11D-2253-08	TCGA-HT-7695-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86386b36-2950-4479-b79f-4b347053c8bc	04911942-c9a9-473f-93d5-79c0c14944ac	g.chr2:26688556C>T	ENST00000272371.2	-	38	4909	c.4783G>A	c.(4783-4785)Gcc>Acc	p.A1595T	OTOF_ENST00000403946.3_Missense_Mutation_p.A1595T|OTOF_ENST00000338581.6_Missense_Mutation_p.A828T|OTOF_ENST00000339598.3_Missense_Mutation_p.A828T|OTOF_ENST00000402415.3_Missense_Mutation_p.A905T	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	1595					cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TAGGTCTGGGCGATGCCGCAG	0.582													5	131					0	0	1	0	0	T	26688556	C	T	26688556	3	4	273	1	0	0	0	0	1	0	0	0	11350	768	27	1	1431	1	OTOF	2	26688556	Missense_Mutation	SNP	C	TCGA-HT-7695-01A-11D-2253-08	715883	26688556	216510817	4	28053											
HEATR5B	54497	broad.mit.edu	37	2	37268386	37268386	+	Missense_Mutation	SNP	G	G	C			TCGA-HT-7695-01A-11D-2253-08	TCGA-HT-7695-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86386b36-2950-4479-b79f-4b347053c8bc	04911942-c9a9-473f-93d5-79c0c14944ac	g.chr2:37268386G>C	ENST00000233099.5	-	19	2841	c.2746C>G	c.(2746-2748)Ctt>Gtt	p.L916V	HEATR5B_ENST00000354531.2_Missense_Mutation_p.L916V	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	916							binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				AAACAACCAAGAGCCAATGAA	0.418													32	56					0	0	1	0	0	C	37268386	G	C	37268386	3	2	273	1	0	0	0	0	1	0	0	0	7073	942	33	4	3541	4	HEATR5B	2	37268386	Missense_Mutation	SNP	G	TCGA-HT-7695-01A-11D-2253-08	10579830	37268386	205930987	5	28054											
AFF3	3899	broad.mit.edu	37	2	100175384	100175384	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7695-01A-11D-2253-08	TCGA-HT-7695-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86386b36-2950-4479-b79f-4b347053c8bc	04911942-c9a9-473f-93d5-79c0c14944ac	g.chr2:100175384T>C	ENST00000409236.2	-	20	3350	c.3238A>G	c.(3238-3240)Agg>Ggg	p.R1080G	AFF3_ENST00000409579.1_Missense_Mutation_p.R1105G|AFF3_ENST00000317233.4_Missense_Mutation_p.R1080G|AFF3_ENST00000356421.2_Missense_Mutation_p.R1105G			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3						multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						GCGTGGTCCCTTTTGAGTCGA	0.483											OREG0014830	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	92					0	0	1	0	0	C	100175384	T	C	100175384	3	2	273	1	0	0	0	0	1	0	0	0	357	1608	56	3	458	3	AFF3	2	100175384	Missense_Mutation	SNP	T	TCGA-HT-7695-01A-11D-2253-08	62906998	100175384	143023989	6	28055											
ARHGEF4	50649	broad.mit.edu	37	2	131797874	131797874	+	Missense_Mutation	SNP	G	G	A	rs117266463	by1000genomes	TCGA-HT-7695-01A-11D-2253-08	TCGA-HT-7695-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86386b36-2950-4479-b79f-4b347053c8bc	04911942-c9a9-473f-93d5-79c0c14944ac	g.chr2:131797874G>A	ENST00000392953.3	+	8	1484	c.965G>A	c.(964-966)aGc>aAc	p.S322N	ARHGEF4_ENST00000428230.2_Intron|ARHGEF4_ENST00000409303.1_Intron|ARHGEF4_ENST00000439368.2_3'UTR|ARHGEF4_ENST00000355771.3_Missense_Mutation_p.S251N|ARHGEF4_ENST00000326016.5_Missense_Mutation_p.S322N|ARHGEF4_ENST00000525839.1_Missense_Mutation_p.S322N	NM_032995.1	NP_127462.1	Q9NR80	ARHG4_HUMAN	Rho guanine nucleotide exchange factor (GEF) 4	322	DH.				apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|lamellipodium assembly|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|ruffle membrane	protein domain specific binding|Rac guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(4)	29		Prostate(154;0.055)		BRCA - Breast invasive adenocarcinoma(221;0.097)		GACATGTTCAGCGAGGAGCAG	0.682													3	47					0	0	1	0	0	A	131797874	G	A	131797874	3	1	273	1	0	0	0	0	1	0	0	0	905	971	34	2	987	2	ARHGEF4	2	131797874	Missense_Mutation	SNP	G	TCGA-HT-7695-01A-11D-2253-08	31622490	131797874	111401499	7	28056											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-HT-7695-01A-11D-2253-08	TCGA-HT-7695-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86386b36-2950-4479-b79f-4b347053c8bc	04911942-c9a9-473f-93d5-79c0c14944ac	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								23	44					0	0	1	0	0	T	209113112	C	T	209113112	3	4	273	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HT-7695-01A-11D-2253-08	77315238	209113112	34086261	8	28057											
CELSR3	1951	broad.mit.edu	37	3	48684252	48684252	+	Silent	SNP	G	G	A			TCGA-HT-7695-01A-11D-2253-08	TCGA-HT-7695-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86386b36-2950-4479-b79f-4b347053c8bc	04911942-c9a9-473f-93d5-79c0c14944ac	g.chr3:48684252G>A	ENST00000544264.1	-	22	7534	c.7254C>T	c.(7252-7254)taC>taT	p.Y2418Y	CELSR3_ENST00000164024.4_Silent_p.Y2413Y			Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	2413					homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CTAAGGTGCGGTAAACGAGGA	0.602													3	44					0	0	1	0	0	A	48684252	G	A	48684252	2	1	273	1	0	0	0	0	0	0	0	1	3245	1256	44	2		2	CELSR3	3	48684252	Silent	SNP	G	TCGA-HT-7695-01A-11D-2253-08		48684252	149338178	9	28058											
ITIH1	3697	broad.mit.edu	37	3	52812973	52812973	+	Silent	SNP	C	C	T	rs151186293	byFrequency	TCGA-HT-7695-01A-11D-2253-08	TCGA-HT-7695-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86386b36-2950-4479-b79f-4b347053c8bc	04911942-c9a9-473f-93d5-79c0c14944ac	g.chr3:52812973C>T	ENST00000273283.2	+	4	345	c.321C>T	c.(319-321)aaC>aaT	p.N107N	ITIH1_ENST00000542827.1_Silent_p.N107N|ITIH1_ENST00000540715.1_5'UTR	NM_002215.3	NP_002206.2	P19827	ITIH1_HUMAN	inter-alpha-trypsin inhibitor heavy chain 1	107	VIT.				hyaluronan metabolic process|leukocyte activation	extracellular region	calcium ion binding|serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	52				BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)		CAGATGGAAACGCATTTATCG	0.547													18	67					0	0	1	0	0	T	52812973	C	T	52812973	2	4	273	1	0	0	0	0	0	0	0	1	7947	535	19	1		1	ITIH1	3	52812973	Silent	SNP	C	TCGA-HT-7695-01A-11D-2253-08	4128721	52812973	145209457	10	28059											
BMP2K	55589	broad.mit.edu	37	4	79832652	79832652	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7695-01A-11D-2253-08	TCGA-HT-7695-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86386b36-2950-4479-b79f-4b347053c8bc	04911942-c9a9-473f-93d5-79c0c14944ac	g.chr4:79832652G>A	ENST00000335016.5	+	16	3117	c.2951G>A	c.(2950-2952)cGc>cAc	p.R984H	PAQR3_ENST00000295462.3_Intron	NM_198892.1	NP_942595.1	Q9NSY1	BMP2K_HUMAN	BMP2 inducible kinase	984						nucleus	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	13						CGCCAAAGGCGCACAAAGCAG	0.502													3	63					0	0	1	0	0	A	79832652	G	A	79832652	3	1	273	1	0	0	0	0	1	0	0	0	1459	1087	38	1	3051	1	BMP2K	4	79832652	Missense_Mutation	SNP	G	TCGA-HT-7695-01A-11D-2253-08		79832652	111321624	11	28060											
PCDHA13	56136	broad.mit.edu	37	5	140263554	140263554	+	Silent	SNP	G	G	A			TCGA-HT-7695-01A-11D-2253-08	TCGA-HT-7695-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86386b36-2950-4479-b79f-4b347053c8bc	04911942-c9a9-473f-93d5-79c0c14944ac	g.chr5:140263554G>A	ENST00000289272.2	+	1	1701	c.1701G>A	c.(1699-1701)acG>acA	p.T567T	PCDHA6_ENST00000527624.1_Intron|PCDHA13_ENST00000409494.1_Silent_p.T567T|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA12_ENST00000398631.2_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1														NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCTGCTGACGCCCGGGGCTG	0.711													6	146					0	0	1	0	0	A	140263554	G	A	140263554	2	1	273	1	0	0	0	0	0	0	0	1	11570	1074	38	1		1	PCDHA13	5	140263554	Silent	SNP	G	TCGA-HT-7695-01A-11D-2253-08		140263554	40651706	12	28061											
ZBTB9	221504	broad.mit.edu	37	6	33423522	33423522	+	Silent	SNP	G	G	A			TCGA-HT-7695-01A-11D-2253-08	TCGA-HT-7695-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86386b36-2950-4479-b79f-4b347053c8bc	04911942-c9a9-473f-93d5-79c0c14944ac	g.chr6:33423522G>A	ENST00000395064.2	+	2	913	c.645G>A	c.(643-645)gaG>gaA	p.E215E		NM_152735.3	NP_689948.1	Q96C00	ZBTB9_HUMAN	zinc finger and BTB domain containing 9	215					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|skin(1)|upper_aerodigestive_tract(2)	11						aagaagaagaggaggaggagg	0.552													3	76					0	0	1	0	0	A	33423522	G	A	33423522	2	1	273	1	0	0	0	0	0	0	0	1	17617	991	35	2		2	ZBTB9	6	33423522	Silent	SNP	G	TCGA-HT-7695-01A-11D-2253-08		33423522	137691545	13	28062											
CNR1	1268	broad.mit.edu	37	6	88854091	88854091	+	Silent	SNP	A	A	G			TCGA-HT-7695-01A-11D-2253-08	TCGA-HT-7695-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86386b36-2950-4479-b79f-4b347053c8bc	04911942-c9a9-473f-93d5-79c0c14944ac	g.chr6:88854091A>G	ENST00000537554.1	-	2	4465	c.903T>C	c.(901-903)gcT>gcC	p.A301A	CNR1_ENST00000549716.1_Silent_p.A240A|CNR1_ENST00000468898.1_Silent_p.A268A|CNR1_ENST00000428600.2_Silent_p.A301A|CNR1_ENST00000369501.2_Silent_p.A301A|CNR1_ENST00000549890.1_Silent_p.A301A|CNR1_ENST00000369499.2_Silent_p.A301A|CNR1_ENST00000535130.1_Silent_p.A301A|CNR1_ENST00000362094.5_3'UTR	NM_001160226.1|NM_001160258.1	NP_001153698.1|NP_001153730.1	P21554	CNR1_HUMAN	cannabinoid receptor 1 (brain)	301					G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	cannabinoid receptor activity|protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(10)|urinary_tract(1)	37		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.15)	Marinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155)	CGTGGCTGTGAGCCTTCCAGA	0.537													11	80					0	0	1	0	0	G	88854091	A	G	88854091	2	3	273	1	0	0	0	0	0	0	0	1	3654	291	11	3		3	CNR1	6	88854091	Silent	SNP	A	TCGA-HT-7695-01A-11D-2253-08	55430569	88854091	82260976	14	28063											
CDK19	23097	broad.mit.edu	37	6	110953281	110953281	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7695-01A-11D-2253-08	TCGA-HT-7695-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86386b36-2950-4479-b79f-4b347053c8bc	04911942-c9a9-473f-93d5-79c0c14944ac	g.chr6:110953281G>A	ENST00000368911.3	-	6	777	c.598C>T	c.(598-600)Cgg>Tgg	p.R200W	CDK19_ENST00000413605.2_Missense_Mutation_p.R76W|CDK19_ENST00000323817.3_Missense_Mutation_p.R140W	NM_015076.3	NP_055891.1	Q9BWU1	CDK19_HUMAN	cyclin-dependent kinase 19	200	Protein kinase.						ATP binding|cyclin-dependent protein kinase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)	22						TCTGGAGCCCGATACCAAAAT	0.358													8	87					0	0	1	0	0	A	110953281	G	A	110953281	3	1	273	1	0	0	0	0	1	0	0	0	3157	1057	37	1	942	1	CDK19	6	110953281	Missense_Mutation	SNP	G	TCGA-HT-7695-01A-11D-2253-08	22099190	110953281	60161786	15	28064											
LRRCC1	85444	broad.mit.edu	37	8	86049720	86049720	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7695-01A-11D-2253-08	TCGA-HT-7695-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86386b36-2950-4479-b79f-4b347053c8bc	04911942-c9a9-473f-93d5-79c0c14944ac	g.chr8:86049720G>A	ENST00000414626.2	+	14	3180	c.2291G>A	c.(2290-2292)cGt>cAt	p.R764H	LRRCC1_ENST00000360375.3_Missense_Mutation_p.R784H			Q9C099	LRCC1_HUMAN	leucine rich repeat and coiled-coil centrosomal protein 1	784					cell division|mitosis	centriole|nucleus				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						GCCCAAAATCGTGGAAAATTG	0.333													18	28					0	0	1	0	0	A	86049720	G	A	86049720	3	1	273	1	0	0	0	0	1	0	0	0	9071	1145	40	1	2409	1	LRRCC1	8	86049720	Missense_Mutation	SNP	G	TCGA-HT-7695-01A-11D-2253-08		86049720	60314302	16	28065											
FAM189A2	9413	broad.mit.edu	37	9	71992346	71992346	+	Translation_Start_Site	SNP	G	G	A			TCGA-HT-7695-01A-11D-2253-08	TCGA-HT-7695-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86386b36-2950-4479-b79f-4b347053c8bc	04911942-c9a9-473f-93d5-79c0c14944ac	g.chr9:71992346G>A	ENST00000303068.7	+	0	360				FAM189A2_ENST00000257515.8_Missense_Mutation_p.A105T|FAM189A2_ENST00000455972.1_Missense_Mutation_p.A105T			Q15884	F1892_HUMAN	family with sequence similarity 189, member A2							integral to membrane		p.A105T(1)		endometrium(3)|large_intestine(5)|liver(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	12						CTTGGTGGCCGCTGCCCTCCG	0.557													4	142					0	0	1	0	0	A	71992346	G	A	71992346	1	1	273	1	0	0	0	0	0	0	0	0	5548	1087	38	1		1	FAM189A2	9	71992346	Translation_Start_Site	SNP	G	TCGA-HT-7695-01A-11D-2253-08		71992346	69221085	17	28066											
CORO2A	7464	broad.mit.edu	37	9	100897160	100897160	+	Silent	SNP	C	C	T	rs147316581	by1000genomes	TCGA-HT-7695-01A-11D-2253-08	TCGA-HT-7695-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86386b36-2950-4479-b79f-4b347053c8bc	04911942-c9a9-473f-93d5-79c0c14944ac	g.chr9:100897160C>T	ENST00000343933.5	-	4	653	c.396G>A	c.(394-396)gcG>gcA	p.A132A	CORO2A_ENST00000375077.4_Silent_p.A132A	NM_003389.3	NP_003380.3	Q92828	COR2A_HUMAN	coronin, actin binding protein, 2A	132					actin cytoskeleton organization|intracellular signal transduction	actin cytoskeleton|transcriptional repressor complex	actin filament binding	p.A132A(1)		endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|skin(4)|urinary_tract(1)	26		Acute lymphoblastic leukemia(62;0.0559)				CTACTCTGCGCGCGTGGCCCA	0.602													25	42					0	0	1	0	0	T	100897160	C	T	100897160	2	4	273	1	0	0	0	0	0	0	0	1	3779	755	27	1		1	CORO2A	9	100897160	Silent	SNP	C	TCGA-HT-7695-01A-11D-2253-08	28904814	100897160	40316271	18	28067											
RAPGEF1	2889	broad.mit.edu	37	9	134455699	134455699	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7695-01A-11D-2253-08	TCGA-HT-7695-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86386b36-2950-4479-b79f-4b347053c8bc	04911942-c9a9-473f-93d5-79c0c14944ac	g.chr9:134455699G>A	ENST00000372195.1	-	23	3328	c.3085C>T	c.(3085-3087)Cgg>Tgg	p.R1029W	RAPGEF1_ENST00000372190.3_Missense_Mutation_p.R1030W|RAPGEF1_ENST00000372189.3_Missense_Mutation_p.R1012W			Q13905	RPGF1_HUMAN	Rap guanine nucleotide exchange factor (GEF) 1	1012	Ras-GEF.				activation of MAPKK activity|nerve growth factor receptor signaling pathway|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|endosome	guanyl-nucleotide exchange factor activity|SH3 domain binding			NS(2)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	39		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364)		TGCTGCCACCGCTTGGAGAAG	0.632													25	44					0	0	1	0	0	A	134455699	G	A	134455699	3	1	273	1	0	0	0	0	1	0	0	0	13095	1086	38	1	207	1	RAPGEF1	9	134455699	Missense_Mutation	SNP	G	TCGA-HT-7695-01A-11D-2253-08	33558539	134455699	6757732	19	28068											
DCHS1	8642	broad.mit.edu	37	11	6662142	6662142	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HT-7695-01A-11D-2253-08	TCGA-HT-7695-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86386b36-2950-4479-b79f-4b347053c8bc	04911942-c9a9-473f-93d5-79c0c14944ac	g.chr11:6662142delG	ENST00000299441.3	-	2	1114	c.703delC	c.(703-705)cggfs	p.R236fs		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	236	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGGGCCCTCCGGGGGGGTGAA	0.587													8	273	---	---	---	---						-	6662142	G	-	6662142	7	5	273	1	0	1	0	1	0	0	0	0	4310	1115	39	0	9273	0	DCHS1	11	6662142	Frame_Shift_Del	DEL	G	TCGA-HT-7695-01A-11D-2253-08		6662142	128344374	20	28069											
SLC22A8	9376	broad.mit.edu	37	11	62760876	62760876	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7695-01A-11D-2253-08	TCGA-HT-7695-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86386b36-2950-4479-b79f-4b347053c8bc	04911942-c9a9-473f-93d5-79c0c14944ac	g.chr11:62760876G>A	ENST00000311438.8	-	9	1548	c.1549C>T	c.(1549-1551)Ccc>Tcc	p.P517S	SLC22A8_ENST00000535878.1_Intron|SLC22A8_ENST00000336232.2_Intron|SLC22A8_ENST00000430500.2_Intron|SLC22A8_ENST00000545207.1_Intron			Q8TCC7	S22A8_HUMAN	solute carrier family 22 (organic anion transporter), member 8	517					response to toxin	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|organic anion transmembrane transporter activity			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28						GCACTGATGGGGCCAGAGGCA	0.612													33	63					0	0	1	0	0	A	62760876	G	A	62760876	3	1	273	1	0	0	0	0	1	0	0	0	14515	1247	43	2		2	SLC22A8	11	62760876	Missense_Mutation	SNP	G	TCGA-HT-7695-01A-11D-2253-08	56098734	62760876	72245640	21	28070											
SPATA5L1	79029	broad.mit.edu	37	15	45713342	45713342	+	Silent	SNP	C	C	T			TCGA-HT-7695-01A-11D-2253-08	TCGA-HT-7695-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86386b36-2950-4479-b79f-4b347053c8bc	04911942-c9a9-473f-93d5-79c0c14944ac	g.chr15:45713342C>T	ENST00000305560.6	+	8	2295	c.2196C>T	c.(2194-2196)tgC>tgT	p.C732C	SPATA5L1_ENST00000533841.1_3'UTR	NM_024063.2	NP_076968.2	Q9BVQ7	SPA5L_HUMAN	spermatogenesis associated 5-like 1	732						cytoplasm	ATP binding|nucleoside-triphosphatase activity			kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	14		Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;7.31e-17)|GBM - Glioblastoma multiforme(94;6.28e-07)		CGTTAAGTTGCAAGGACTTGG	0.353													7	22					0	0	1	0	0	T	45713342	C	T	45713342	2	4	273	1	0	0	0	0	0	0	0	1	15068	718	25	2		2	SPATA5L1	15	45713342	Silent	SNP	C	TCGA-HT-7695-01A-11D-2253-08		45713342	56818050	22	28071											
SEZ6L2	26470	broad.mit.edu	37	16	29897045	29897045	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7695-01A-11D-2253-08	TCGA-HT-7695-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86386b36-2950-4479-b79f-4b347053c8bc	04911942-c9a9-473f-93d5-79c0c14944ac	g.chr16:29897045G>A	ENST00000308713.5	-	8	1761	c.1234C>T	c.(1234-1236)Ccc>Tcc	p.P412S	SEZ6L2_ENST00000537485.1_Missense_Mutation_p.P368S|SEZ6L2_ENST00000346932.5_Missense_Mutation_p.P298S|SEZ6L2_ENST00000350527.3_Missense_Mutation_p.P342S	NM_001114099.2|NM_201575.3	NP_001107571.1|NP_963869.2	Q6UXD5	SE6L2_HUMAN	seizure related 6 homolog (mouse)-like 2	412	CUB 2.					endoplasmic reticulum membrane|integral to membrane|plasma membrane				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GGGGATAGGGGGCTGCCCCCT	0.602													16	74					0	0	1	0	0	A	29897045	G	A	29897045	3	1	273	1	0	0	0	0	1	0	0	0	14198	1232	43	2	1581	2	SEZ6L2	16	29897045	Missense_Mutation	SNP	G	TCGA-HT-7695-01A-11D-2253-08		29897045	60457708	23	28072											
RLTPR	146206	broad.mit.edu	37	16	67688719	67688719	+	Silent	SNP	A	A	G			TCGA-HT-7695-01A-11D-2253-08	TCGA-HT-7695-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86386b36-2950-4479-b79f-4b347053c8bc	04911942-c9a9-473f-93d5-79c0c14944ac	g.chr16:67688719A>G	ENST00000334583.6	+	32	3949	c.3621A>G	c.(3619-3621)ccA>ccG	p.P1207P	RLTPR_ENST00000545661.1_Silent_p.P1171P	NM_001013838.1	NP_001013860.1	Q6F5E8	LR16C_HUMAN	RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing	1207										breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		AACTGGCTCCATCCTTTGAAC	0.622													54	154					0	0	1	0	0	G	67688719	A	G	67688719	2	3	273	1	0	0	0	0	0	0	0	1	13446	204	8	3		3	RLTPR	16	67688719	Silent	SNP	A	TCGA-HT-7695-01A-11D-2253-08	37791674	67688719	22666034	24	28073											
MYH3	4621	broad.mit.edu	37	17	10533673	10533673	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7695-01A-11D-2253-08	TCGA-HT-7695-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86386b36-2950-4479-b79f-4b347053c8bc	04911942-c9a9-473f-93d5-79c0c14944ac	g.chr17:10533673G>A	ENST00000583535.1	-	37	5476	c.5389C>T	c.(5389-5391)Cgt>Tgt	p.R1797C	MYH3_ENST00000226209.7_Missense_Mutation_p.R1797C	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	1797					muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						TCATCTAGACGATGCTGCAGG	0.607													17	157					0	0	1	0	0	A	10533673	G	A	10533673	3	1	273	1	0	0	0	0	1	0	0	0	10084	1058	37	1	453	1	MYH3	17	10533673	Missense_Mutation	SNP	G	TCGA-HT-7695-01A-11D-2253-08		10533673	70661537	25	28074											
SCN4A	6329	broad.mit.edu	37	17	62043903	62043903	+	Splice_Site	SNP	C	C	T			TCGA-HT-7695-01A-11D-2253-08	TCGA-HT-7695-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86386b36-2950-4479-b79f-4b347053c8bc	04911942-c9a9-473f-93d5-79c0c14944ac	g.chr17:62043903C>T	ENST00000435607.1	-	7	1114	c.1038G>A	c.(1036-1038)ggG>ggA	p.G346G	SCN4A_ENST00000578147.1_Splice_Site_p.G346G	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	346					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	AGTAGAAGTTCCCTTTGGGAG	0.582													8	39					0	0	1	0	0	T	62043903	C	T	62043903	5	4	273	1	0	0	0	0	0	0	1	0	13974	869	30	2	4544	2	SCN4A	17	62043903	Splice_Site	SNP	C	TCGA-HT-7695-01A-11D-2253-08	51510230	62043903	19151307	26	28075											
CIC	23152	broad.mit.edu	37	19	42798840	42798840	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7695-01A-11D-2253-08	TCGA-HT-7695-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86386b36-2950-4479-b79f-4b347053c8bc	04911942-c9a9-473f-93d5-79c0c14944ac	g.chr19:42798840G>A	ENST00000572681.2	+	20	7198	c.7130G>A	c.(7129-7131)cGg>cAg	p.R2377Q	CIC_ENST00000575354.2_Missense_Mutation_p.R1471Q|CIC_ENST00000160740.3_Missense_Mutation_p.R1469Q			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	1471					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				GACCAGCGCCGGGCCCTGGTC	0.612			"Mis, F, S"		oligodendroglioma								17	67					0	0	1	0	0	A	42798840	G	A	42798840	3	1	273	1	0	0	0	0	1	0	0	0	3446	1116	39	1	4486	1	CIC	19	42798840	Missense_Mutation	SNP	G	TCGA-HT-7695-01A-11D-2253-08		42798840	16330143	27	28076											
WFDC10A	140832	broad.mit.edu	37	20	44258532	44258532	+	Missense_Mutation	SNP	A	A	T			TCGA-HT-7695-01A-11D-2253-08	TCGA-HT-7695-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86386b36-2950-4479-b79f-4b347053c8bc	04911942-c9a9-473f-93d5-79c0c14944ac	g.chr20:44258532A>T	ENST00000372643.3	+	1	368	c.80A>T	c.(79-81)aAg>aTg	p.K27M	WFDC9_ENST00000326000.1_Intron	NM_080753.2	NP_542791.1	Q9H1F0	WF10A_HUMAN	WAP four-disulfide core domain 10A	27						extracellular region	serine-type endopeptidase inhibitor activity			large_intestine(2)	2		Myeloproliferative disorder(115;0.0122)				CGTGACAAGAAGAGGATGCAG	0.587											OREG0025983	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	68					0	0	1	0	0	T	44258532	A	T	44258532	3	4	273	1	0	0	0	0	1	0	0	0	17407	72	3	5	82	5	WFDC10A	20	44258532	Missense_Mutation	SNP	A	TCGA-HT-7695-01A-11D-2253-08		44258532	18766988	28	28077											
C1QTNF6	114904	broad.mit.edu	37	22	37578623	37578623	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7695-01A-11D-2253-08	TCGA-HT-7695-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86386b36-2950-4479-b79f-4b347053c8bc	04911942-c9a9-473f-93d5-79c0c14944ac	g.chr22:37578623C>T	ENST00000337843.2	-	3	517	c.442G>A	c.(442-444)Gtg>Atg	p.V148M	RP1-151B14.6_ENST00000419128.1_RNA|C1QTNF6_ENST00000397110.2_Missense_Mutation_p.V148M|C1QTNF6_ENST00000255836.6_Splice_Site|C1QTNF6_ENST00000470655.1_Splice_Site	NM_031910.3	NP_114116.3	Q9BXI9	C1QT6_HUMAN	C1q and tumor necrosis factor related protein 6	129	C1q.					collagen				breast(1)|large_intestine(2)|lung(6)|stomach(1)|upper_aerodigestive_tract(1)	11						TTGCGGCCCACTGAGAAGGCG	0.657													4	84					0	0	1	0	0	T	37578623	C	T	37578623	3	4	273	1	0	0	0	0	1	0	0	0	1980	565	20	2	398	2	C1QTNF6	22	37578623	Missense_Mutation	SNP	C	TCGA-HT-7695-01A-11D-2253-08		37578623	13725943	29	28078											
SHROOM2	357	broad.mit.edu	37	X	9905237	9905237	+	Silent	SNP	G	G	A			TCGA-HT-7695-01A-11D-2253-08	TCGA-HT-7695-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86386b36-2950-4479-b79f-4b347053c8bc	04911942-c9a9-473f-93d5-79c0c14944ac	g.chrX:9905237G>A	ENST00000380913.3	+	7	3741	c.3651G>A	c.(3649-3651)tcG>tcA	p.S1217S	SHROOM2_ENST00000418909.2_Silent_p.S52S	NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN	shroom family member 2	1217					apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization	apical plasma membrane|cell-cell adherens junction|microtubule|tight junction	actin filament binding|beta-catenin binding|ligand-gated sodium channel activity			breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57		Hepatocellular(5;0.000888)				TCGTGCACTCGGAGAGCCAGC	0.587													5	17					0	0	1	0	0	A	9905237	G	A	9905237	2	1	273	1	0	0	0	0	0	0	0	1	14349	1103	39	1		1	SHROOM2	23	9905237	Silent	SNP	G	TCGA-HT-7695-01A-11D-2253-08		9905237	145365323	30	28079											
FIGF	2277	broad.mit.edu	37	X	15365420	15365420	+	Silent	SNP	A	A	G			TCGA-HT-7695-01A-11D-2253-08	TCGA-HT-7695-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86386b36-2950-4479-b79f-4b347053c8bc	04911942-c9a9-473f-93d5-79c0c14944ac	g.chrX:15365420A>G	ENST00000297904.3	-	6	1233	c.804T>C	c.(802-804)cgT>cgC	p.R268R	FIGF_ENST00000488351.1_5'UTR	NM_004469.4	NP_004460.1	O43915	VEGFD_HUMAN	c-fos induced growth factor (vascular endothelial growth factor D)	268	4 X 16 AA repeats of C-X(10)-C-X-C- X(1,3)-C.				angiogenesis|cell differentiation|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of cell proliferation|positive regulation of mast cell chemotaxis|vascular endothelial growth factor receptor signaling pathway	extracellular space|membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity|platelet-derived growth factor receptor binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	17	Hepatocellular(33;0.183)					CACACTCGCAACGATCTTCGT	0.473													12	104					0	0	1	0	0	G	15365420	A	G	15365420	2	3	273	1	0	0	0	0	0	0	0	1	5922	30	2	3		3	FIGF	23	15365420	Silent	SNP	A	TCGA-HT-7695-01A-11D-2253-08	5460183	15365420	139905140	31	28080											
HEPH	9843	broad.mit.edu	37	X	65427079	65427079	+	Silent	SNP	T	T	A			TCGA-HT-7695-01A-11D-2253-08	TCGA-HT-7695-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86386b36-2950-4479-b79f-4b347053c8bc	04911942-c9a9-473f-93d5-79c0c14944ac	g.chrX:65427079T>A	ENST00000519389.1	+	14	2675	c.2496T>A	c.(2494-2496)ggT>ggA	p.G832G	HEPH_ENST00000419594.1_Silent_p.G589G|HEPH_ENST00000343002.2_Silent_p.G778G|HEPH_ENST00000336279.5_Silent_p.G511G|HEPH_ENST00000374727.3_Silent_p.G781G|HEPH_ENST00000441993.2_Silent_p.G781G			Q9BQS7	HEPH_HUMAN	hephaestin	778	Plastocyanin-like 5.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						GGCTCCTGGGTTCCAGATACA	0.463													8	37					0	0	1	0	0	A	65427079	T	A	65427079	2	1	273	1	0	0	0	0	0	0	0	1	7095	1712	60	5		5	HEPH	23	65427079	Silent	SNP	T	TCGA-HT-7695-01A-11D-2253-08	50061659	65427079	89843481	32	28081											
CXCR3	2833	broad.mit.edu	37	X	70837109	70837109	+	Silent	SNP	G	G	A			TCGA-HT-7695-01A-11D-2253-08	TCGA-HT-7695-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86386b36-2950-4479-b79f-4b347053c8bc	04911942-c9a9-473f-93d5-79c0c14944ac	g.chrX:70837109G>A	ENST00000373691.4	-	2	517	c.354C>T	c.(352-354)aaC>aaT	p.N118N	CXCR3_ENST00000373693.3_Silent_p.N71N	NM_001142797.1	NP_001136269.1	P49682	CXCR3_HUMAN	chemokine (C-X-C motif) receptor 3	71					cell adhesion|cellular component movement|chemotaxis|elevation of cytosolic calcium ion concentration	cytoplasm|integral to plasma membrane	C-X-C chemokine receptor activity			breast(1)|central_nervous_system(2)|large_intestine(2)|lung(3)|ovary(2)	10	Renal(35;0.156)					CCACCGCGCCGTTGCCCAGCA	0.667													3	14					0	0	1	0	0	A	70837109	G	A	70837109	2	1	273	1	0	0	0	0	0	0	0	1	4115	1136	40	1		1	CXCR3	23	70837109	Silent	SNP	G	TCGA-HT-7695-01A-11D-2253-08	5410030	70837109	84433451	33	28082											
ZCCHC12	170261	broad.mit.edu	37	X	117959418	117959418	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7695-01A-11D-2253-08	TCGA-HT-7695-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86386b36-2950-4479-b79f-4b347053c8bc	04911942-c9a9-473f-93d5-79c0c14944ac	g.chrX:117959418G>A	ENST00000310164.2	+	4	718	c.211G>A	c.(211-213)Gtc>Atc	p.V71I		NM_173798.2	NP_776159.1	Q6PEW1	ZCH12_HUMAN	zinc finger, CCHC domain containing 12	71					regulation of transcription, DNA-dependent|transcription, DNA-dependent		nucleic acid binding|zinc ion binding	p.V71I(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	22						agtcaatggcgtcctgccaga	0.557													5	97					0	0	1	0	0	A	117959418	G	A	117959418	3	1	273	1	0	0	0	0	1	0	0	0	17640	1145	40	1	213	1	ZCCHC12	23	117959418	Missense_Mutation	SNP	G	TCGA-HT-7695-01A-11D-2253-08	47122309	117959418	37311142	34	28083											
HMGB3	3149	broad.mit.edu	37	X	150156360	150156360	+	Silent	SNP	G	G	A			TCGA-HT-7695-01A-11D-2253-08	TCGA-HT-7695-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86386b36-2950-4479-b79f-4b347053c8bc	04911942-c9a9-473f-93d5-79c0c14944ac	g.chrX:150156360G>A	ENST00000325307.7	+	5	672	c.576G>A	c.(574-576)gaG>gaA	p.E192E	HMGB3_ENST00000448905.2_Silent_p.E192E	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN	high mobility group box 3	192	Asp/Glu-rich (acidic).				DNA recombination|multicellular organismal development	chromosome|nucleus	DNA bending activity|double-stranded DNA binding	p.E192E(1)		endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8	Acute lymphoblastic leukemia(192;6.56e-05)					aggaagaagaggaggaggagg	0.443													5	55					0	0	1	0	0	A	150156360	G	A	150156360	2	1	273	1	0	0	0	0	0	0	0	1	7268	991	35	2		2	HMGB3	23	150156360	Silent	SNP	G	TCGA-HT-7695-01A-11D-2253-08	32196942	150156360	5114200	35	28084											
WDR78	79819	broad.mit.edu	37	1	67371036	67371037	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HT-7854-01A-11D-2253-08	TCGA-HT-7854-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041fdd6c-8bbc-4966-8ca7-8a9099b9031f	c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829	g.chr1:67371036_67371037insA	ENST00000371026.3	-	2	247_248	c.192_193insT	c.(190-195)aagaagfs	p.K65fs	WDR78_ENST00000371023.3_Frame_Shift_Ins_p.K65fs|WDR78_ENST00000488333.1_5'UTR|WDR78_ENST00000431318.1_5'UTR|WDR78_ENST00000371022.3_Frame_Shift_Ins_p.K65fs	NM_024763.4	NP_079039.4	Q5VTH9	WDR78_HUMAN	WD repeat domain 78	65										NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3)	32						CTAATAGACTTCTTTGGTTGTG	0.322													16	16	---	---	---	---						A	67371037	-	A	67371036	7	5	274	1	0	1	1	0	0	0	0	0	17388	1792	62	0	2474	0	WDR78	1	67371036	Frame_Shift_Ins	INS	-	TCGA-HT-7854-01A-11D-2253-08		67371036	181879585	1	28085											
AMPD2	271	broad.mit.edu	37	1	110168798	110168798	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-7854-01A-11D-2253-08	TCGA-HT-7854-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041fdd6c-8bbc-4966-8ca7-8a9099b9031f	c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829	g.chr1:110168798C>G	ENST00000256578.3	+	4	892	c.532C>G	c.(532-534)Ctg>Gtg	p.L178V	AMPD2_ENST00000393688.3_Missense_Mutation_p.L59V|AMPD2_ENST00000528454.1_Missense_Mutation_p.L60V|AMPD2_ENST00000358729.4_Missense_Mutation_p.L103V|AMPD2_ENST00000526301.1_3'UTR|AMPD2_ENST00000342115.4_Missense_Mutation_p.L97V|AMPD2_ENST00000528667.1_Missense_Mutation_p.L178V	NM_004037.7	NP_004028.3	Q01433	AMPD2_HUMAN	adenosine monophosphate deaminase 2	178					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			breast(1)|large_intestine(3)|ovary(2)|skin(1)	7		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.0425)|all cancers(265;0.0884)|Colorectal(144;0.109)|Epithelial(280;0.111)|LUSC - Lung squamous cell carcinoma(189;0.228)		GCCAGACATCCTGCTTCGGGC	0.632													10	38					0	0	1	0	0	G	110168798	C	G	110168798	3	3	274	1	0	0	0	0	1	0	0	0	582	680	24	4	587	4	AMPD2	1	110168798	Missense_Mutation	SNP	C	TCGA-HT-7854-01A-11D-2253-08	42797762	110168798	139081823	2	28086											
LCE2B	26239	broad.mit.edu	37	1	152659476	152659476	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-7854-01A-11D-2253-08	TCGA-HT-7854-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041fdd6c-8bbc-4966-8ca7-8a9099b9031f	c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829	g.chr1:152659476G>T	ENST00000368780.3	+	2	211	c.157G>T	c.(157-159)Ggg>Tgg	p.G53W	LCE2B_ENST00000417924.2_Missense_Mutation_p.G53W	NM_014357.4	NP_055172.1	O14633	LCE2B_HUMAN	late cornified envelope 2B	53	Cys-rich.				keratinization					endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	11	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCCCATCTCTGGGGGCTGCTG	0.642													11	248					0.000978159	0.00102069	1	1	0	T	152659476	G	T	152659476	3	4	274	1	0	0	0	0	1	0	0	0	8705	1348	47	5	159	5	LCE2B	1	152659476	Missense_Mutation	SNP	G	TCGA-HT-7854-01A-11D-2253-08	42490678	152659476	96591145	3	28087											
FCRL3	115352	broad.mit.edu	37	1	157665876	157665876	+	Silent	SNP	G	G	A			TCGA-HT-7854-01A-11D-2253-08	TCGA-HT-7854-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041fdd6c-8bbc-4966-8ca7-8a9099b9031f	c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829	g.chr1:157665876G>A	ENST00000368184.3	-	7	1377	c.1086C>T	c.(1084-1086)aaC>aaT	p.N362N	FCRL3_ENST00000368186.5_Silent_p.N362N|FCRL3_ENST00000473231.1_5'UTR|RP11-367J7.3_ENST00000453692.1_RNA	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN	Fc receptor-like 3	362	Ig-like C2-type 4.					integral to membrane|plasma membrane	receptor activity			autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					GGCTGTGAACGTTATCAGCTG	0.532													7	75					0	0	1	0	0	A	157665876	G	A	157665876	2	1	274	1	0	0	0	0	0	0	0	1	5829	1136	40	1		1	FCRL3	1	157665876	Silent	SNP	G	TCGA-HT-7854-01A-11D-2253-08	5006400	157665876	91584745	4	28088											
PRG4	10216	broad.mit.edu	37	1	186276406	186276406	+	Missense_Mutation	SNP	C	C	A			TCGA-HT-7854-01A-11D-2253-08	TCGA-HT-7854-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041fdd6c-8bbc-4966-8ca7-8a9099b9031f	c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829	g.chr1:186276406C>A	ENST00000445192.2	+	7	1600	c.1555C>A	c.(1555-1557)Ccc>Acc	p.P519T	PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367483.4_Missense_Mutation_p.P478T|PRG4_ENST00000367485.4_Missense_Mutation_p.P426T|PRG4_ENST00000367486.3_Missense_Mutation_p.P476T	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	519	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						ACCCACCACTCCCAAGGAGCC	0.642													5	121					0.248553	0.248553	1	1	0	A	186276406	C	A	186276406	3	1	274	1	0	0	0	0	1	0	0	0	12533	855	30	5	1577	5	PRG4	1	186276406	Missense_Mutation	SNP	C	TCGA-HT-7854-01A-11D-2253-08	28610530	186276406	62974215	5	28089											
ASPRV1	151516	broad.mit.edu	37	2	70188202	70188202	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7854-01A-11D-2253-08	TCGA-HT-7854-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041fdd6c-8bbc-4966-8ca7-8a9099b9031f	c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829	g.chr2:70188202C>T	ENST00000320256.4	-	1	1195	c.619G>A	c.(619-621)Gtg>Atg	p.V207M		NM_152792.2	NP_690005.2	Q53RT3	APRV1_HUMAN	aspartic peptidase, retroviral-like 1	207	Peptidase A2.				protein maturation by peptide bond cleavage|skin development		aspartic-type endopeptidase activity			endometrium(3)|large_intestine(4)|lung(6)|ovary(1)	14						AGGAACCTCACGGGCACTTTG	0.597													4	72					0	0	1	0	0	T	70188202	C	T	70188202	3	4	274	1	0	0	0	0	1	0	0	0	1057	536	19	1	416	1	ASPRV1	2	70188202	Missense_Mutation	SNP	C	TCGA-HT-7854-01A-11D-2253-08		70188202	173011171	6	28090											
PHLDB2	90102	broad.mit.edu	37	3	111604041	111604042	+	Frame_Shift_Ins	INS	-	-	CAGA			TCGA-HT-7854-01A-11D-2253-08	TCGA-HT-7854-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041fdd6c-8bbc-4966-8ca7-8a9099b9031f	c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829	g.chr3:111604041_111604042insCAGA	ENST00000431670.2	+	2	1528_1529	c.1117_1118insCAGA	c.(1117-1119)tcafs	p.-374fs	PHLDB2_ENST00000393923.3_Frame_Shift_Ins_p.-401fs|PHLDB2_ENST00000478922.1_Frame_Shift_Ins_p.-374fs|PHLDB2_ENST00000481953.1_Frame_Shift_Ins_p.-374fs|PHLDB2_ENST00000477695.1_Frame_Shift_Ins_p.-374fs|PHLDB2_ENST00000412622.1_Frame_Shift_Ins_p.-374fs|PHLDB2_ENST00000393925.3_Frame_Shift_Ins_p.-374fs	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2							cytoplasm|intermediate filament cytoskeleton|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						TGCTGGAGAGTCAGACAGAGTT	0.515													23	80	---	---	---	---						CAGA	111604042	-	CAGA	111604041	7	5	274	1	0	1	1	0	0	0	0	0	11900	1667	58	0	1204	0	PHLDB2	3	111604041	Frame_Shift_Ins	INS	-	TCGA-HT-7854-01A-11D-2253-08		111604041	86418389	7	28091											
GRID2	2895	broad.mit.edu	37	4	94436513	94436513	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7854-01A-11D-2253-08	TCGA-HT-7854-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041fdd6c-8bbc-4966-8ca7-8a9099b9031f	c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829	g.chr4:94436513G>A	ENST00000282020.4	+	13	2402	c.2144G>A	c.(2143-2145)aGc>aAc	p.S715N	GRID2_ENST00000510992.1_Missense_Mutation_p.S620N	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	715					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	ATCAACCGAAGCAATGGATCG	0.473													20	74					0	0	1	0	0	A	94436513	G	A	94436513	3	1	274	1	0	0	0	0	1	0	0	0	6813	971	34	2	2194	2	GRID2	4	94436513	Missense_Mutation	SNP	G	TCGA-HT-7854-01A-11D-2253-08		94436513	96717763	8	28092											
PDE4D	5144	broad.mit.edu	37	5	58489358	58489358	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7854-01A-11D-2253-08	TCGA-HT-7854-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041fdd6c-8bbc-4966-8ca7-8a9099b9031f	c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829	g.chr5:58489358C>T	ENST00000340635.6	-	3	827	c.652G>A	c.(652-654)Gga>Aga	p.G218R	PDE4D_ENST00000507116.1_Missense_Mutation_p.G154R|PDE4D_ENST00000405755.2_Missense_Mutation_p.G96R|PDE4D_ENST00000503258.1_Missense_Mutation_p.G88R|PDE4D_ENST00000502484.2_Missense_Mutation_p.G157R|PDE4D_ENST00000360047.5_Missense_Mutation_p.G82R|PDE4D_ENST00000546160.1_Missense_Mutation_p.G157R|PDE4D_ENST00000502575.1_Missense_Mutation_p.G154R|PDE4D_ENST00000503947.1_5'UTR	NM_001104631.1	NP_001098101.1	Q08499	PDE4D_HUMAN	phosphodiesterase 4D, cAMP-specific	218					signal transduction	cytosol|insoluble fraction|membrane|microtubule organizing center|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|pancreas(1)	15		all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954)		Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276)	Adenosine monophosphate(DB00131)|Dyphylline(DB00651)	AAGTCATCTCCGTGTCTGAAA	0.398													6	25					0	0	1	0	0	T	58489358	C	T	58489358	3	4	274	1	0	0	0	0	1	0	0	0	11689	661	23	1	1829	1	PDE4D	5	58489358	Missense_Mutation	SNP	C	TCGA-HT-7854-01A-11D-2253-08		58489358	122425902	9	28093											
GPR98	84059	broad.mit.edu	37	5	90119413	90119413	+	Splice_Site	SNP	G	G	A			TCGA-HT-7854-01A-11D-2253-08	TCGA-HT-7854-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041fdd6c-8bbc-4966-8ca7-8a9099b9031f	c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829	g.chr5:90119413G>A	ENST00000405460.2	+	76	16464	c.16368G>A	c.(16366-16368)aaG>aaA	p.K5456K	GPR98_ENST00000425867.2_Splice_Site_p.K1117K	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	5456	Calx-beta 35.				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		AACCAGAAAAGGTAAGAAATG	0.363													10	13					0	0	1	0	0	A	90119413	G	A	90119413	5	1	274	1	0	0	0	0	0	0	1	0	6762	1014	35	2	16670	2	GPR98	5	90119413	Splice_Site	SNP	G	TCGA-HT-7854-01A-11D-2253-08	31630055	90119413	90795847	10	28094											
PCDHB1	29930	broad.mit.edu	37	5	140432731	140432731	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7854-01A-11D-2253-08	TCGA-HT-7854-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041fdd6c-8bbc-4966-8ca7-8a9099b9031f	c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829	g.chr5:140432731G>A	ENST00000306549.3	+	1	1753	c.1676G>A	c.(1675-1677)cGt>cAt	p.R559H		NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN		559	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.R559H(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AATGACAATCGTCCAATGATC	0.502													22	44					0	0	1	0	0	A	140432731	G	A	140432731	3	1	274	1	0	0	0	0	1	0	0	0	11581	1145	40	1	1678	1	PCDHB1	5	140432731	Missense_Mutation	SNP	G	TCGA-HT-7854-01A-11D-2253-08	50313318	140432731	40482529	11	28095											
ATP10B	23120	broad.mit.edu	37	5	160061402	160061402	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7854-01A-11D-2253-08	TCGA-HT-7854-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041fdd6c-8bbc-4966-8ca7-8a9099b9031f	c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829	g.chr5:160061402C>T	ENST00000327245.5	-	12	2186	c.1340G>A	c.(1339-1341)cGt>cAt	p.R447H	CTC-348L5.1_ENST00000523598.1_RNA	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	447					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GATGGTGCAACGTCGGAACAC	0.507													26	45					0	0	1	0	0	T	160061402	C	T	160061402	3	4	274	1	0	0	0	0	1	0	0	0	1116	536	19	1	3105	1	ATP10B	5	160061402	Missense_Mutation	SNP	C	TCGA-HT-7854-01A-11D-2253-08	19628671	160061402	20853858	12	28096											
FGFR4	2264	broad.mit.edu	37	5	176519745	176519745	+	Silent	SNP	C	C	T			TCGA-HT-7854-01A-11D-2253-08	TCGA-HT-7854-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041fdd6c-8bbc-4966-8ca7-8a9099b9031f	c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829	g.chr5:176519745C>T	ENST00000292408.4	+	8	1262	c.1017C>T	c.(1015-1017)atC>atT	p.I339I	FGFR4_ENST00000292410.3_Silent_p.I339I|FGFR4_ENST00000393637.1_Silent_p.I339I|FGFR4_ENST00000502906.1_Silent_p.I339I|FGFR4_ENST00000393648.2_Silent_p.I339I	NM_002011.3|NM_213647.1	NP_002002.3|NP_998812.1	P22455	FGFR4_HUMAN	fibroblast growth factor receptor 4	339	Ig-like C2-type 3.				insulin receptor signaling pathway|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	34	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Palifermin(DB00039)	GCAATTCCATCGGCCTCTCCT	0.632										TSP Lung(9;0.080)			5	124					0	0	1	0	0	T	176519745	C	T	176519745	2	4	274	1	0	0	0	0	0	0	0	1	5901	874	31	1		1	FGFR4	5	176519745	Silent	SNP	C	TCGA-HT-7854-01A-11D-2253-08	16458343	176519745	4395515	13	28097											
TRIM15	89870	broad.mit.edu	37	6	30131720	30131720	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7854-01A-11D-2253-08	TCGA-HT-7854-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041fdd6c-8bbc-4966-8ca7-8a9099b9031f	c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829	g.chr6:30131720G>A	ENST00000376694.4	+	1	728	c.259G>A	c.(259-261)Ggc>Agc	p.G87S	TRIM15_ENST00000376688.1_Missense_Mutation_p.G87S	NM_033229.2	NP_150232.2	Q9C019	TRI15_HUMAN	tripartite motif containing 15	87					mesodermal cell fate determination	intracellular	zinc ion binding			large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	14						CGAGGAGCACGGCGAGAAGAT	0.632													3	46					0	0	1	0	0	A	30131720	G	A	30131720	3	1	274	1	0	0	0	0	1	0	0	0	16551	1116	39	1	261	1	TRIM15	6	30131720	Missense_Mutation	SNP	G	TCGA-HT-7854-01A-11D-2253-08		30131720	140983347	14	28098											
DAXX	1616	broad.mit.edu	37	6	33287900	33287900	+	Silent	SNP	C	C	T			TCGA-HT-7854-01A-11D-2253-08	TCGA-HT-7854-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041fdd6c-8bbc-4966-8ca7-8a9099b9031f	c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829	g.chr6:33287900C>T	ENST00000374542.5	-	5	1557	c.1353G>A	c.(1351-1353)gaG>gaA	p.E451E	DAXX_ENST00000477162.1_5'UTR|DAXX_ENST00000414083.2_Silent_p.E376E|DAXX_ENST00000266000.6_Silent_p.E451E	NM_001141969.1|NM_001141970.1|NM_001350.4	NP_001135441.1|NP_001135442.1|NP_001341.1	Q9UER7	DAXX_HUMAN	death-domain associated protein	451	Asp/Glu-rich (acidic).|Necessary for interaction with USP7.				activation of JUN kinase activity|androgen receptor signaling pathway|apoptosis|induction of apoptosis via death domain receptors|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|regulation of protein ubiquitination|transcription, DNA-dependent	chromosome, centromeric region|cytosol|nucleolus|PML body	androgen receptor binding|heat shock protein binding|p53 binding|protein homodimerization activity|protein N-terminus binding|receptor signaling protein activity|transcription factor binding|ubiquitin protein ligase binding	p.E451E(2)		breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	55						cttcttcttcctcctcctcct	0.557			"Mis, F, N"		Pancreatic neuroendocrine tumors. Paediatric GBM								3	30					0	0	1	0	0	T	33287900	C	T	33287900	2	4	274	1	0	0	0	0	0	0	0	1	4267	680	24	2		2	DAXX	6	33287900	Silent	SNP	C	TCGA-HT-7854-01A-11D-2253-08	3156180	33287900	137827167	15	28099											
ABCA13	154664	broad.mit.edu	37	7	48506641	48506641	+	Splice_Site	SNP	C	C	T			TCGA-HT-7854-01A-11D-2253-08	TCGA-HT-7854-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041fdd6c-8bbc-4966-8ca7-8a9099b9031f	c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829	g.chr7:48506641C>T	ENST00000435803.1	+	44	12928	c.12904C>T	c.(12904-12906)Cag>Tag	p.Q4302*	ABCA13_ENST00000544596.1_Intron	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	4302			Q -> R (in dbSNP:rs4917153).		transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						AAACCCACGCCAGTAAGTGTC	0.473													28	104					0	0	1	0	0	T	48506641	C	T	48506641	5	4	274	1	0	0	0	0	0	0	1	0	31	608	21	2	12907	2	ABCA13	7	48506641	Splice_Site	SNP	C	TCGA-HT-7854-01A-11D-2253-08		48506641	110632022	16	28100											
ABCB1	5243	broad.mit.edu	37	7	87183111	87183111	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7854-01A-11D-2253-08	TCGA-HT-7854-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041fdd6c-8bbc-4966-8ca7-8a9099b9031f	c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829	g.chr7:87183111A>G	ENST00000265724.3	-	10	1382	c.965T>C	c.(964-966)cTc>cCc	p.L322P	ABCB1_ENST00000543898.1_Missense_Mutation_p.L258P	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	322	ABC transmembrane type-1 1.				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	TTCCCCTGAGAGGACCAAGGT	0.393													19	42					0	0	1	0	0	G	87183111	A	G	87183111	3	3	274	1	0	0	0	0	1	0	0	0	40	304	11	3	2957	3	ABCB1	7	87183111	Missense_Mutation	SNP	A	TCGA-HT-7854-01A-11D-2253-08	38676470	87183111	71955552	17	28101											
MUC17	140453	broad.mit.edu	37	7	100676700	100676700	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HT-7854-01A-11D-2253-08	TCGA-HT-7854-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041fdd6c-8bbc-4966-8ca7-8a9099b9031f	c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829	g.chr7:100676700C>A	ENST00000306151.4	+	3	2067	c.2003C>A	c.(2002-2004)tCa>tAa	p.S668*		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	668	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GAAGCCACTTCATCTTCTACA	0.502													6	323					0.0293803	0.0300055	1	1	0	A	100676700	C	A	100676700	4	1	274	1	0	0	0	0	0	1	0	0	10022	838	29	5	2013	5	MUC17	7	100676700	Nonsense_Mutation	SNP	C	TCGA-HT-7854-01A-11D-2253-08	13493589	100676700	58461963	18	28102											
RNF208	727800	broad.mit.edu	37	9	140114928	140114928	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7854-01A-11D-2253-08	TCGA-HT-7854-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041fdd6c-8bbc-4966-8ca7-8a9099b9031f	c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829	g.chr9:140114928G>A	ENST00000392827.1	-	2	905	c.737C>T	c.(736-738)gCg>gTg	p.A246V	RNF208_ENST00000391553.1_Missense_Mutation_p.A246V			Q9H0X6	RN208_HUMAN	ring finger protein 208	246							zinc ion binding			lung(1)	1	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		GCAGGTGCACGCGGCCCCACA	0.706													3	13					0	0	1	0	0	A	140114928	G	A	140114928	3	1	274	1	0	0	0	0	1	0	0	0	13527	1087	38	1	52	1	RNF208	9	140114928	Missense_Mutation	SNP	G	TCGA-HT-7854-01A-11D-2253-08		140114928	1098503	19	28103											
CPN1	1369	broad.mit.edu	37	10	101841262	101841262	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7854-01A-11D-2253-08	TCGA-HT-7854-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041fdd6c-8bbc-4966-8ca7-8a9099b9031f	c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829	g.chr10:101841262C>T	ENST00000370418.3	-	1	372	c.121G>A	c.(121-123)Gaa>Aaa	p.E41K		NM_001308.2	NP_001299.1	P15169	CBPN_HUMAN	carboxypeptidase N, polypeptide 1	41	Catalytic.				proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	33		Colorectal(252;0.234)		Epithelial(162;4.77e-10)|all cancers(201;3.82e-08)		CCGGGGCATTCGTTTTGCACC	0.597													4	87					0	0	1	0	0	T	101841262	C	T	101841262	3	4	274	1	0	0	0	0	1	0	0	0	3832	893	31	1	1291	1	CPN1	10	101841262	Missense_Mutation	SNP	C	TCGA-HT-7854-01A-11D-2253-08		101841262	33693485	20	28104											
NTF3	4908	broad.mit.edu	37	12	5603797	5603797	+	Silent	SNP	C	C	T			TCGA-HT-7854-01A-11D-2253-08	TCGA-HT-7854-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041fdd6c-8bbc-4966-8ca7-8a9099b9031f	c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829	g.chr12:5603797C>T	ENST00000423158.3	+	2	668	c.456C>T	c.(454-456)taC>taT	p.Y152Y	NTF3_ENST00000331010.6_Silent_p.Y139Y|NTF3_ENST00000535299.1_Intron	NM_001102654.1	NP_001096124.1	P20783	NTF3_HUMAN	neurotrophin 3	139					signal transduction	extracellular region	growth factor activity|neurotrophin receptor binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(3)|upper_aerodigestive_tract(1)	22						GGAAACGGTACGCGGAGCATA	0.602													35	106					0	0	1	0	0	T	5603797	C	T	5603797	2	4	274	1	0	0	0	0	0	0	0	1	10744	547	19	1		1	NTF3	12	5603797	Silent	SNP	C	TCGA-HT-7854-01A-11D-2253-08		5603797	128248098	21	28105											
ATN1	1822	broad.mit.edu	37	12	7050146	7050146	+	Silent	SNP	C	C	T			TCGA-HT-7854-01A-11D-2253-08	TCGA-HT-7854-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041fdd6c-8bbc-4966-8ca7-8a9099b9031f	c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829	g.chr12:7050146C>T	ENST00000356654.4	+	8	3555	c.3318C>T	c.(3316-3318)caC>caT	p.H1106H	ATN1_ENST00000396684.2_Silent_p.H1106H	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN	atrophin 1	1106					cell death|central nervous system development	cytoplasm|nucleus	protein domain specific binding			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						TGCTTCCTCACCCTCTGCACG	0.567													16	51					0	0	1	0	0	T	7050146	C	T	7050146	2	4	274	1	0	0	0	0	0	0	0	1	1110	506	18	2		2	ATN1	12	7050146	Silent	SNP	C	TCGA-HT-7854-01A-11D-2253-08	1446349	7050146	126801749	22	28106											
NACA	4666	broad.mit.edu	37	12	57111705	57111705	+	Silent	SNP	G	G	A	rs2926746		TCGA-HT-7854-01A-11D-2253-08	TCGA-HT-7854-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041fdd6c-8bbc-4966-8ca7-8a9099b9031f	c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829	g.chr12:57111705G>A	ENST00000454682.1	-	3	3890	c.3609C>T	c.(3607-3609)ccC>ccT	p.P1203P	NACA_ENST00000548563.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000550952.1_Intron	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN	nascent polypeptide-associated complex alpha subunit	0					interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						CTTTTGGGGAGGGAGGAGTTG	0.642			T	BCL6	NHL								4	141					0	0	1	0	0	A	57111705	G	A	57111705	2	1	274	1	0	0	0	0	0	0	0	1	10181	987	35	2		2	NACA	12	57111705	Silent	SNP	G	TCGA-HT-7854-01A-11D-2253-08	50061559	57111705	76740190	23	28107											
TMTC2	160335	broad.mit.edu	37	12	83379779	83379779	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7854-01A-11D-2253-08	TCGA-HT-7854-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041fdd6c-8bbc-4966-8ca7-8a9099b9031f	c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829	g.chr12:83379779A>G	ENST00000549919.1	+	9	3811	c.2006A>G	c.(2005-2007)gAc>gGc	p.D669G	TMTC2_ENST00000321196.3_Missense_Mutation_p.D675G			Q8N394	TMTC2_HUMAN	transmembrane and tetratricopeptide repeat containing 2	675						endoplasmic reticulum|integral to membrane	binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1)	39						TCCAAGACTGACCACATCCCT	0.458													31	65					0	0	1	0	0	G	83379779	A	G	83379779	3	3	274	1	0	0	0	0	1	0	0	0	16321	275	10	3	2054	3	TMTC2	12	83379779	Missense_Mutation	SNP	A	TCGA-HT-7854-01A-11D-2253-08	26268074	83379779	50472116	24	28108											
PTPN11	5781	broad.mit.edu	37	12	112915523	112915523	+	Missense_Mutation	SNP	A	A	G	rs28933386		TCGA-HT-7854-01A-11D-2253-08	TCGA-HT-7854-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041fdd6c-8bbc-4966-8ca7-8a9099b9031f	c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829	g.chr12:112915523A>G	ENST00000351677.2	+	8	1120	c.922A>G	c.(922-924)Aat>Gat	p.N308D	PTPN11_ENST00000392597.1_Missense_Mutation_p.N308D	NM_002834.3	NP_002825.3	Q06124	PTN11_HUMAN	protein tyrosine phosphatase, non-receptor type 11	308	Tyrosine-protein phosphatase.		N -> D (in NS1; common mutation).|N -> S (in NS1; some patients also manifest giant cell lesions of bone and soft tissue).		axon guidance|cell junction assembly|ephrin receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|platelet activation|regulation of cell adhesion mediated by integrin|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway	cytosol	non-membrane spanning protein tyrosine phosphatase activity|protein binding	p.N308D(1)		NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(406)|kidney(2)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(3)|stomach(3)	451						CATCAATGCAAATATCATCAT	0.378			Mis		"JMML, AML, MDS"		Noonan Syndrome		Noonan syndrome				12	37					0	0	1	0	0	G	112915523	A	G	112915523	3	3	274	1	0	0	0	0	1	0	0	0	12830	14	1	3	952	3	PTPN11	12	112915523	Missense_Mutation	SNP	A	TCGA-HT-7854-01A-11D-2253-08	29535744	112915523	20936372	25	28109											
NCOR2	9612	broad.mit.edu	37	12	124817682	124817683	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HT-7854-01A-11D-2253-08	TCGA-HT-7854-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041fdd6c-8bbc-4966-8ca7-8a9099b9031f	c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829	g.chr12:124817682_124817683insC	ENST00000356219.3	-	43	6924_6925	c.6769_6770insG	c.(6769-6771)gagfs	p.E2257fs	NCOR2_ENST00000404621.1_Frame_Shift_Ins_p.E2240fs|NCOR2_ENST00000397355.1_Frame_Shift_Ins_p.E2241fs|NCOR2_ENST00000404121.2_Frame_Shift_Ins_p.E1811fs|NCOR2_ENST00000405201.1_Frame_Shift_Ins_p.E2250fs|NCOR2_ENST00000429285.2_Frame_Shift_Ins_p.E2240fs	NM_006312.5	NP_006303.4	Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	2261					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		GTACCTGGGCTCCGTCTGTTCC	0.644													32	86	---	---	---	---						C	124817683	-	C	124817682	7	5	274	1	0	1	1	0	0	0	0	0	10283	1551	54	0	819	0	NCOR2	12	124817682	Frame_Shift_Ins	INS	-	TCGA-HT-7854-01A-11D-2253-08	11902159	124817682	9034213	26	28110											
IL16	3603	broad.mit.edu	37	15	81571959	81571959	+	Silent	SNP	C	C	T			TCGA-HT-7854-01A-11D-2253-08	TCGA-HT-7854-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041fdd6c-8bbc-4966-8ca7-8a9099b9031f	c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829	g.chr15:81571959C>T	ENST00000394660.2	+	8	1285	c.925C>T	c.(925-927)Ctg>Ttg	p.L309L	IL16_ENST00000302987.4_Silent_p.L309L	NM_001172128.1|NM_172217.3	NP_001165599.1|NP_757366.2	Q14005	IL16_HUMAN	interleukin 16	309	Interaction with GRIN2A.				immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						GCCTCCTTCCCTGTGCAGCCA	0.612													17	23					0	0	1	0	0	T	81571959	C	T	81571959	2	4	274	1	0	0	0	0	0	0	0	1	7677	680	24	2		2	IL16	15	81571959	Silent	SNP	C	TCGA-HT-7854-01A-11D-2253-08		81571959	20959433	27	28111											
MAPK3	5595	broad.mit.edu	37	16	30134372	30134372	+	Silent	SNP	G	G	A			TCGA-HT-7854-01A-11D-2253-08	TCGA-HT-7854-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041fdd6c-8bbc-4966-8ca7-8a9099b9031f	c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829	g.chr16:30134372G>A	ENST00000403394.1	-	1	258	c.159C>T	c.(157-159)taC>taT	p.Y53Y	MAPK3_ENST00000395199.3_Silent_p.Y53Y|MAPK3_ENST00000263025.4_Silent_p.Y53Y|MAPK3_ENST00000322266.5_Silent_p.Y53Y|MAPK3_ENST00000395202.1_Silent_p.Y53Y|MAPK3_ENST00000395200.1_Silent_p.Y24Y	NM_001040056.1	NP_001035145.1	P27361	MK03_HUMAN	mitogen-activated protein kinase 3	53	Protein kinase.				activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle|cellular response to mechanical stimulus|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|interleukin-1-mediated signaling pathway|interspecies interaction between organisms|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|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 initiation from RNA polymerase I promoter	cytosol|nucleoplasm	ATP binding|MAP kinase activity|phosphatase binding									Arsenic trioxide(DB01169)|Isoproterenol(DB01064)|Simvastatin(DB00641)|Sulindac(DB00605)	TGACCATGCCGTACGCGCCCT	0.726													3	50					0	0	1	0	0	A	30134372	G	A	30134372	2	1	274	1	0	0	0	0	0	0	0	1	9329	1140	40	1		1	MAPK3	16	30134372	Silent	SNP	G	TCGA-HT-7854-01A-11D-2253-08		30134372	60220381	28	28112											
PLCG2	5336	broad.mit.edu	37	16	81944259	81944259	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7854-01A-11D-2253-08	TCGA-HT-7854-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041fdd6c-8bbc-4966-8ca7-8a9099b9031f	c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829	g.chr16:81944259G>A	ENST00000359376.3	+	18	2082	c.1868G>A	c.(1867-1869)cGc>cAc	p.R623H		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	623	SH2 1.			R -> P (in Ref. 1; AAA60112/CAA32194 and 3; AAQ76815).	intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						ACGCACCTGCGCTGCGCCGAG	0.632													7	420					0	0	1	0	0	A	81944259	G	A	81944259	3	1	274	1	0	0	0	0	1	0	0	0	12084	1087	38	1	1934	1	PLCG2	16	81944259	Missense_Mutation	SNP	G	TCGA-HT-7854-01A-11D-2253-08	51809887	81944259	8410494	29	28113											
KRT20	54474	broad.mit.edu	37	17	39041184	39041184	+	Missense_Mutation	SNP	A	A	T			TCGA-HT-7854-01A-11D-2253-08	TCGA-HT-7854-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041fdd6c-8bbc-4966-8ca7-8a9099b9031f	c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829	g.chr17:39041184A>T	ENST00000167588.3	-	1	295	c.254T>A	c.(253-255)cTa>cAa	p.L85Q		NM_019010.2	NP_061883.1	P35900	K1C20_HUMAN	keratin 20	85	Coil 1A.|Rod.				apoptosis|intermediate filament organization	Golgi apparatus|intermediate filament	protein binding|structural constituent of cytoskeleton			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(1)	14		Breast(137;0.000301)|Ovarian(249;0.15)				CACCTTTTCTAGGTAGCTCGC	0.542													6	53					0	0	1	0	0	T	39041184	A	T	39041184	3	4	274	1	0	0	0	0	1	0	0	0	8501	420	15	5	1052	5	KRT20	17	39041184	Missense_Mutation	SNP	A	TCGA-HT-7854-01A-11D-2253-08		39041184	42154026	30	28114											
KCNH6	81033	broad.mit.edu	37	17	61621618	61621618	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7854-01A-11D-2253-08	TCGA-HT-7854-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041fdd6c-8bbc-4966-8ca7-8a9099b9031f	c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829	g.chr17:61621618C>T	ENST00000583023.1	+	12	2361	c.2350C>T	c.(2350-2352)Cct>Tct	p.P784S	KCNH6_ENST00000581784.1_Missense_Mutation_p.P695S|KCNH6_ENST00000456941.2_Missense_Mutation_p.P695S|KCNH6_ENST00000314672.5_Missense_Mutation_p.P748S	NM_030779.2	NP_110406.1	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 6	784					regulation of transcription, DNA-dependent|signal transduction					breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Ibutilide(DB00308)	AGATGCAGCCCCTCCCCTGAG	0.612													16	33					0	0	1	0	0	T	61621618	C	T	61621618	3	4	274	1	0	0	0	0	1	0	0	0	8080	623	22	2	2396	2	KCNH6	17	61621618	Missense_Mutation	SNP	C	TCGA-HT-7854-01A-11D-2253-08	22580434	61621618	19573592	31	28115											
CD300A	11314	broad.mit.edu	37	17	72473594	72473594	+	Silent	SNP	C	C	T			TCGA-HT-7854-01A-11D-2253-08	TCGA-HT-7854-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041fdd6c-8bbc-4966-8ca7-8a9099b9031f	c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829	g.chr17:72473594C>T	ENST00000360141.3	+	4	841	c.553C>T	c.(553-555)Ctg>Ttg	p.L185L	CD300A_ENST00000577511.1_Silent_p.L55L|CD300A_ENST00000361933.3_Intron|CD300A_ENST00000310828.5_Silent_p.L72L|CD300A_ENST00000392625.3_Silent_p.L72L	NM_001256841.1|NM_007261.3	NP_001243770.1|NP_009192.2	Q9UGN4	CLM8_HUMAN	CD300a molecule	185					cell adhesion	integral to membrane|plasma membrane	receptor activity			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(4)|urinary_tract(1)	16						GCTCCTCTCCCTGCTGGCATT	0.512													17	67					0	0	1	0	0	T	72473594	C	T	72473594	2	4	274	1	0	0	0	0	0	0	0	1	3018	680	24	2		2	CD300A	17	72473594	Silent	SNP	C	TCGA-HT-7854-01A-11D-2253-08	10851976	72473594	8721616	32	28116											
MAPK4	5596	broad.mit.edu	37	18	48190668	48190668	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7854-01A-11D-2253-08	TCGA-HT-7854-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041fdd6c-8bbc-4966-8ca7-8a9099b9031f	c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829	g.chr18:48190668C>T	ENST00000400384.2	+	2	1376	c.340C>T	c.(340-342)Cgc>Tgc	p.R114C	MAPK4_ENST00000592595.1_Missense_Mutation_p.R114C|MAPK4_ENST00000540640.1_Intron|MAPK4_ENST00000588540.1_Missense_Mutation_p.R114C	NM_002747.3	NP_002738.2	P31152	MK04_HUMAN	mitogen-activated protein kinase 4	114	Protein kinase.				cell cycle		ATP binding|MAP kinase activity	p.R114C(1)		lung(4)|skin(3)|upper_aerodigestive_tract(1)	8		Colorectal(6;0.0297)		Colorectal(21;0.156)		CGACCTGGCACGCCTGCTGGA	0.612													10	69					0	0	1	0	0	T	48190668	C	T	48190668	3	4	274	1	0	0	0	0	1	0	0	0	9330	536	19	1	342	1	MAPK4	18	48190668	Missense_Mutation	SNP	C	TCGA-HT-7854-01A-11D-2253-08		48190668	29886580	33	28117											
ABCA7	10347	broad.mit.edu	37	19	1056395	1056395	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7854-01A-11D-2253-08	TCGA-HT-7854-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041fdd6c-8bbc-4966-8ca7-8a9099b9031f	c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829	g.chr19:1056395C>T	ENST00000263094.6	+	33	4714	c.4483C>T	c.(4483-4485)Ctc>Ttc	p.L1495F	ABCA7_ENST00000433129.1_Missense_Mutation_p.L1495F|ABCA7_ENST00000435683.2_Missense_Mutation_p.L1357F	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	1495					phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity			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)		CAACGCAATCCTCCGTGCTCA	0.612													23	66					0	0	1	0	0	T	1056395	C	T	1056395	3	4	274	1	0	0	0	0	1	0	0	0	37	681	24	2	4609	2	ABCA7	19	1056395	Missense_Mutation	SNP	C	TCGA-HT-7854-01A-11D-2253-08		1056395	58072588	34	28118											
FCHO1	23149	broad.mit.edu	37	19	17895689	17895689	+	Silent	SNP	G	G	A			TCGA-HT-7854-01A-11D-2253-08	TCGA-HT-7854-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041fdd6c-8bbc-4966-8ca7-8a9099b9031f	c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829	g.chr19:17895689G>A	ENST00000594202.1	+	26	2661	c.2382G>A	c.(2380-2382)gtG>gtA	p.V794V	FCHO1_ENST00000539407.1_Silent_p.V794V|FCHO1_ENST00000595033.1_Silent_p.V744V|FCHO1_ENST00000597512.1_Silent_p.V801V|FCHO1_ENST00000600676.1_Silent_p.V794V|FCHO1_ENST00000389133.4_Silent_p.V794V|FCHO1_ENST00000252771.7_Silent_p.V794V|FCHO1_ENST00000596536.1_Silent_p.V794V|FCHO1_ENST00000596951.1_Silent_p.V794V	NM_001161357.1	NP_001154829.1	O14526	FCHO1_HUMAN	FCH domain only 1	794										NS(2)|breast(1)|large_intestine(6)|liver(1)|lung(12)	22						TGCTGCCTGTGGGGGAGCCTG	0.652											OREG0025350	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	18	118					0	0	1	0	0	A	17895689	G	A	17895689	2	1	274	1	0	0	0	0	0	0	0	1	5820	1335	47	2		2	FCHO1	19	17895689	Silent	SNP	G	TCGA-HT-7854-01A-11D-2253-08	16839294	17895689	41233294	35	28119											
MYH14	79784	broad.mit.edu	37	19	50812434	50812434	+	Splice_Site	SNP	G	G	T			TCGA-HT-7854-01A-11D-2253-08	TCGA-HT-7854-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041fdd6c-8bbc-4966-8ca7-8a9099b9031f	c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829	g.chr19:50812434G>T	ENST00000440075.2	+	42	6007	c.5960G>T	c.(5959-5961)cGa>cTa	p.R1987L	MYH14_ENST00000598205.1_Splice_Site_p.R1954L|MYH14_ENST00000376970.2_Splice_Site_p.R1979L|MYH14_ENST00000601313.1_Splice_Site_p.R1987L|MYH14_ENST00000596571.1_Splice_Site_p.R1946L|MYH14_ENST00000262269.8_Splice_Site_p.R1987L|MYH14_ENST00000425460.1_Splice_Site_p.R1954L			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	1946					axon guidance|regulation of cell shape	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		AACCGGCTTCGGTATGGTCAT	0.632													7	133					7.48243e-07	8.16265e-07	1	1	0	T	50812434	G	T	50812434	5	4	274	1	0	0	0	0	0	0	1	0	10081	1130	39	5	6122	5	MYH14	19	50812434	Splice_Site	SNP	G	TCGA-HT-7854-01A-11D-2253-08	32916745	50812434	8316549	36	28120											
C20orf26	26074	broad.mit.edu	37	20	20271009	20271009	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HT-7854-01A-11D-2253-08	TCGA-HT-7854-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041fdd6c-8bbc-4966-8ca7-8a9099b9031f	c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829	g.chr20:20271009G>A	ENST00000377309.2	+	23	2976	c.930G>A	c.(928-930)tgG>tgA	p.W310*	C20orf26_ENST00000245957.5_Missense_Mutation_p.E1064K			Q8NHU2	CT026_HUMAN	chromosome 20 open reading frame 26	0										NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		AACTCCCTTGGAGGTACAAAT	0.348													14	40					0	0	1	0	0	A	20271009	G	A	20271009	4	1	274	1	0	0	0	0	0	1	0	0	2120	1175	41	2	3312	2	C20orf26	20	20271009	Nonsense_Mutation	SNP	G	TCGA-HT-7854-01A-11D-2253-08		20271009	42754511	37	28121											
ACOT8	10005	broad.mit.edu	37	20	44472287	44472287	+	Silent	SNP	C	C	G			TCGA-HT-7854-01A-11D-2253-08	TCGA-HT-7854-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041fdd6c-8bbc-4966-8ca7-8a9099b9031f	c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829	g.chr20:44472287C>G	ENST00000217455.4	-	5	810	c.720G>C	c.(718-720)ctG>ctC	p.L240L		NM_005469.3	NP_005460.2	O14734	ACOT8_HUMAN	acyl-CoA thioesterase 8	240					bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase|interspecies interaction between organisms|peroxisome organization	peroxisomal matrix	acetyl-CoA hydrolase activity|acyl-CoA thioesterase activity|carboxylesterase activity|choloyl-CoA hydrolase activity|protein binding			kidney(2)|large_intestine(3)|lung(4)|skin(1)	10		Myeloproliferative disorder(115;0.0122)				GGTGAGGCAGCAGTGCAGTGC	0.597													15	46					0	0	1	0	0	G	44472287	C	G	44472287	2	3	274	1	0	0	0	0	0	0	0	1	156	697	25	5		5	ACOT8	20	44472287	Silent	SNP	C	TCGA-HT-7854-01A-11D-2253-08	24201278	44472287	18553233	38	28122											
ITSN1	6453	broad.mit.edu	37	21	35094910	35094910	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HT-7854-01A-11D-2253-08	TCGA-HT-7854-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041fdd6c-8bbc-4966-8ca7-8a9099b9031f	c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829	g.chr21:35094910delT	ENST00000381318.3	+	4	427	c.139delT	c.(139-141)tttfs	p.F49fs	ITSN1_ENST00000399326.3_Frame_Shift_Del_p.F49fs|ITSN1_ENST00000399349.1_Frame_Shift_Del_p.F49fs|ITSN1_ENST00000381285.4_Frame_Shift_Del_p.F49fs|ITSN1_ENST00000381291.4_Frame_Shift_Del_p.F49fs|ITSN1_ENST00000437442.2_Frame_Shift_Del_p.F49fs|ITSN1_ENST00000399338.4_Frame_Shift_Del_p.F49fs|ITSN1_ENST00000399353.1_Frame_Shift_Del_p.F49fs|ITSN1_ENST00000399367.3_Frame_Shift_Del_p.F49fs|ITSN1_ENST00000379960.5_Frame_Shift_Del_p.F49fs|ITSN1_ENST00000399352.1_Frame_Shift_Del_p.F49fs|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000399355.2_Frame_Shift_Del_p.F49fs	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	49	EH 1.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						AGCTAGAAACTTTTTTTTTCA	0.279													3	3	---	---	---	---						-	35094910	T	-	35094910	7	5	274	1	0	1	0	1	0	0	0	0	7970	1609	56	0	149	0	ITSN1	21	35094910	Frame_Shift_Del	DEL	T	TCGA-HT-7854-01A-11D-2253-08		35094910	13034985	39	28123											
KRTAP10-6	386674	broad.mit.edu	37	21	46011553	46011553	+	Silent	SNP	A	A	G			TCGA-HT-7854-01A-11D-2253-08	TCGA-HT-7854-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041fdd6c-8bbc-4966-8ca7-8a9099b9031f	c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829	g.chr21:46011553A>G	ENST00000400368.1	-	1	833	c.813T>C	c.(811-813)tgT>tgC	p.C271C	TSPEAR_ENST00000323084.4_Intron	NM_198688.2	NP_941961.2	P60371	KR106_HUMAN	keratin associated protein 10-6	271	29 X 5 AA repeats of C-C-X(3).					keratin filament				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(6)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23						AGACGGGCACACAGCAGGCGT	0.647													6	269					0	0	1	0	0	G	46011553	A	G	46011553	2	3	274	1	0	0	0	0	0	0	0	1	8556	157	6	3		3	KRTAP10-6	21	46011553	Silent	SNP	A	TCGA-HT-7854-01A-11D-2253-08	10916643	46011553	2118342	40	28124											
TUBGCP6	85378	broad.mit.edu	37	22	50659212	50659212	+	Silent	SNP	A	A	G	rs141527317		TCGA-HT-7854-01A-11D-2253-08	TCGA-HT-7854-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041fdd6c-8bbc-4966-8ca7-8a9099b9031f	c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829	g.chr22:50659212A>G	ENST00000439308.2	-	16	4068	c.3576T>C	c.(3574-3576)tcT>tcC	p.S1192S	TUBGCP6_ENST00000491449.1_5'UTR|TUBGCP6_ENST00000248846.5_Silent_p.S1192S	NM_020461.3	NP_065194.2	Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	1192	9 X 27 AA tandem repeats.				G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		TGCTGGCATCAGACACGTGTC	0.617													5	91					0	0	1	0	0	G	50659212	A	G	50659212	2	3	274	1	0	0	0	0	0	0	0	1	16832	175	7	3		3	TUBGCP6	22	50659212	Silent	SNP	A	TCGA-HT-7854-01A-11D-2253-08		50659212	645354	41	28125											
TAF1	6872	broad.mit.edu	37	X	70621406	70621406	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-7854-01A-11D-2253-08	TCGA-HT-7854-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041fdd6c-8bbc-4966-8ca7-8a9099b9031f	c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829	g.chrX:70621406G>T	ENST00000449580.1	+	25	3863	c.3812G>T	c.(3811-3813)gGa>gTa	p.G1271V	TAF1_ENST00000276072.3_Missense_Mutation_p.G1292V|TAF1_ENST00000373790.4_Missense_Mutation_p.G1271V|TAF1_ENST00000423759.1_Missense_Mutation_p.G1292V			P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	1271					G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				GGTGCCATTGGACACATGAGG	0.458													14	14					1.3612e-06	1.45195e-06	1	1	0	T	70621406	G	T	70621406	3	4	274	1	0	0	0	0	1	0	0	0	15570	1174	41	5	3973	5	TAF1	23	70621406	Missense_Mutation	SNP	G	TCGA-HT-7854-01A-11D-2253-08		70621406	84649154	42	28126											
TCEB3	6924	broad.mit.edu	37	1	24077560	24077561	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-HT-7855-01A-11D-2395-08	TCGA-HT-7855-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bc9fea0-cb11-47c4-bfe6-a813ee66a3eb	0ba77c15-05f7-4769-8070-6a2a63a9f466	g.chr1:24077560_24077561delAA	ENST00000418390.2	+	4	814_815	c.543_544delAA	c.(541-546)agaaagfs	p.K182fs	TCEB3_ENST00000609199.1_Frame_Shift_Del_p.K156fs	NM_003198.2	NP_003189.2	Q14241	ELOA1_HUMAN	transcription elongation factor B (SIII), polypeptide 3 (110kDa, elongin A)	182					positive regulation of viral transcription|regulation of transcription from RNA polymerase II promoter|transcription elongation from RNA polymerase II promoter|viral reproduction	integral to membrane	DNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.42e-24)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;4.74e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|KIRC - Kidney renal clear cell carcinoma(1967;0.00334)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)		GAGATGAGAGAAAGAGGTGTCA	0.48													50	121	---	---	---	---						-	24077561	AA	-	24077560	7	5	275	1	0	1	0	1	0	0	0	0	15741	243	9	0	557	0	TCEB3	1	24077560	Frame_Shift_Del	DEL	AA	TCGA-HT-7855-01A-11D-2395-08		24077560	225173061	1	28127											
GBP2	2634	broad.mit.edu	37	1	89578261	89578263	+	In_Frame_Del	DEL	TCT	TCT	-	rs142287187		TCGA-HT-7855-01A-11D-2395-08	TCGA-HT-7855-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bc9fea0-cb11-47c4-bfe6-a813ee66a3eb	0ba77c15-05f7-4769-8070-6a2a63a9f466	g.chr1:89578261_89578263delTCT	ENST00000370466.3	-	8	1522_1524	c.1254_1256delAGA	c.(1252-1257)gaagat>gat	p.E418del	GBP2_ENST00000463660.1_5'UTR	NM_004120.3	NP_004111.2	P32456	GBP2_HUMAN	guanylate binding protein 2, interferon-inducible	418					interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	plasma membrane	GTP binding|GTPase activity	p.E418delE(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(1)	20		Lung NSC(277;0.0908)		all cancers(265;0.0151)|Epithelial(280;0.0284)		CTGCTTGACATCTTCTTCTAAAG	0.438													40	192	---	---	---	---						-	89578263	TCT	-	89578261	7	5	275	1	0	1	0	1	0	0	0	0	6314	1435	50	0	535	0	GBP2	1	89578261	In_Frame_Del	DEL	TCT	TCGA-HT-7855-01A-11D-2395-08	65500701	89578261	159672360	2	28128											
GBP7	388646	broad.mit.edu	37	1	89615082	89615083	+	Frame_Shift_Del	DEL	GT	GT	-			TCGA-HT-7855-01A-11D-2395-08	TCGA-HT-7855-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bc9fea0-cb11-47c4-bfe6-a813ee66a3eb	0ba77c15-05f7-4769-8070-6a2a63a9f466	g.chr1:89615082_89615083delGT	ENST00000294671.2	-	7	1182_1183	c.1044_1045delAC	c.(1042-1047)acactcfs	p.L349fs		NM_207398.2	NP_997281.2	Q8N8V2	GBP7_HUMAN	guanylate binding protein 7	349						integral to membrane	GTP binding|GTPase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Lung NSC(277;0.0908)		all cancers(265;0.00835)|Epithelial(280;0.0322)		AGCTCCTGGAGTGTGTCTGTGG	0.535													11	147	---	---	---	---						-	89615083	GT	-	89615082	7	5	275	1	0	1	0	1	0	0	0	0	6319	1029	36	0	891	0	GBP7	1	89615082	Frame_Shift_Del	DEL	GT	TCGA-HT-7855-01A-11D-2395-08	36821	89615082	159635539	3	28129											
FLG	2312	broad.mit.edu	37	1	152284999	152284999	+	Missense_Mutation	SNP	C	C	T	rs142483068	byFrequency	TCGA-HT-7855-01A-11D-2395-08	TCGA-HT-7855-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bc9fea0-cb11-47c4-bfe6-a813ee66a3eb	0ba77c15-05f7-4769-8070-6a2a63a9f466	g.chr1:152284999C>T	ENST00000368799.1	-	3	2398	c.2363G>A	c.(2362-2364)cGa>cAa	p.R788Q	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	788	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCCTGAACGTCGAGACCTTTC	0.567									Ichthyosis				147	385					0	0	1	0	0	T	152284999	C	T	152284999	3	4	275	1	0	0	0	0	1	0	0	0	5955	884	31	1	9826	1	FLG	1	152284999	Missense_Mutation	SNP	C	TCGA-HT-7855-01A-11D-2395-08	62669917	152284999	96965622	4	28130											
ARHGEF2	9181	broad.mit.edu	37	1	155931587	155931587	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7855-01A-11D-2395-08	TCGA-HT-7855-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bc9fea0-cb11-47c4-bfe6-a813ee66a3eb	0ba77c15-05f7-4769-8070-6a2a63a9f466	g.chr1:155931587T>C	ENST00000462460.2	-	15	1722	c.1468A>G	c.(1468-1470)Atc>Gtc	p.I490V	ARHGEF2_ENST00000477754.2_Intron|ARHGEF2_ENST00000313667.4_Missense_Mutation_p.I444V|ARHGEF2_ENST00000368316.1_Missense_Mutation_p.I417V|ARHGEF2_ENST00000313695.7_Missense_Mutation_p.I417V|ARHGEF2_ENST00000368315.4_Missense_Mutation_p.I446V|ARHGEF2_ENST00000361247.4_Missense_Mutation_p.I445V			Q92974	ARHG2_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 2		PH.				actin filament organization|apoptosis|cell division|cell morphogenesis|induction of apoptosis by extracellular signals|intracellular protein transport|mitosis|negative regulation of microtubule depolymerization|nerve growth factor receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|regulation of cell proliferation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|Golgi apparatus|microtubule|ruffle membrane|spindle|tight junction	microtubule binding|Rac GTPase binding|Rac guanyl-nucleotide exchange factor activity|zinc ion binding			breast(4)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|skin(2)	40	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					CGGTTGTAGATCTCCTGCAGA	0.607													43	48					0	0	1	0	0	C	155931587	T	C	155931587	3	2	275	1	0	0	0	0	1	0	0	0	900	1435	50	3	1675	3	ARHGEF2	1	155931587	Missense_Mutation	SNP	T	TCGA-HT-7855-01A-11D-2395-08	3646588	155931587	93319034	5	28131											
IFI16	3428	broad.mit.edu	37	1	158988254	158988254	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7855-01A-11D-2395-08	TCGA-HT-7855-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bc9fea0-cb11-47c4-bfe6-a813ee66a3eb	0ba77c15-05f7-4769-8070-6a2a63a9f466	g.chr1:158988254C>T	ENST00000295809.7	+	5	1040	c.785C>T	c.(784-786)tCa>tTa	p.S262L	IFI16_ENST00000368131.4_Missense_Mutation_p.S262L|IFI16_ENST00000359709.3_Missense_Mutation_p.S206L|IFI16_ENST00000430894.2_Missense_Mutation_p.S210L|IFI16_ENST00000448393.2_Missense_Mutation_p.S262L|IFI16_ENST00000368132.3_Missense_Mutation_p.S262L|IFI16_ENST00000340979.6_Missense_Mutation_p.S262L			Q16666	IF16_HUMAN	interferon, gamma-inducible protein 16	262	HIN-200 1.				cell proliferation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|monocyte differentiation|negative regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	cytoplasm|nuclear speck|nucleolus	double-stranded DNA binding|protein binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0429)					ATCATCATATCAGATTATTTG	0.368													10	65					0	0	1	0	0	T	158988254	C	T	158988254	3	4	275	1	0	0	0	0	1	0	0	0	7555	838	29	2	799	2	IFI16	1	158988254	Missense_Mutation	SNP	C	TCGA-HT-7855-01A-11D-2395-08	3056667	158988254	90262367	6	28132											
IPO9	55705	broad.mit.edu	37	1	201817721	201817721	+	Splice_Site	SNP	A	A	G			TCGA-HT-7855-01A-11D-2395-08	TCGA-HT-7855-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bc9fea0-cb11-47c4-bfe6-a813ee66a3eb	0ba77c15-05f7-4769-8070-6a2a63a9f466	g.chr1:201817721A>G	ENST00000361565.4	+	4	582	c.513A>G	c.(511-513)acA>acG	p.T171T	IPO9_ENST00000464348.1_3'UTR	NM_018085.4	NP_060555.2	Q96P70	IPO9_HUMAN	importin 9	171					protein import into nucleus	cytoplasm|nucleus	histone binding|protein transporter activity			cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	38						GTGTGCTGACAGGTACCAGAA	0.512													19	25					0	0	1	0	0	G	201817721	A	G	201817721	5	3	275	1	0	0	0	0	0	0	1	0	7843	202	7	3	527	3	IPO9	1	201817721	Splice_Site	SNP	A	TCGA-HT-7855-01A-11D-2395-08	42829467	201817721	47432900	7	28133											
IL18R1	8809	broad.mit.edu	37	2	102984511	102984511	+	Silent	SNP	T	T	A			TCGA-HT-7855-01A-11D-2395-08	TCGA-HT-7855-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bc9fea0-cb11-47c4-bfe6-a813ee66a3eb	0ba77c15-05f7-4769-8070-6a2a63a9f466	g.chr2:102984511T>A	ENST00000409599.1	+	4	641	c.285T>A	c.(283-285)tcT>tcA	p.S95S	IL18R1_ENST00000233957.1_Silent_p.S95S|IL18R1_ENST00000334376.3_Silent_p.S95S			Q13478	IL18R_HUMAN	interleukin 18 receptor 1	95	Ig-like C2-type 1.				innate immune response	integral to membrane|plasma membrane	interleukin-1 receptor activity			breast(1)|endometrium(3)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						ACACAGGATCTTACTTTTTCC	0.403													12	128					0	0	1	0	0	A	102984511	T	A	102984511	2	1	275	1	0	0	0	0	0	0	0	1	7691	1596	56	5		5	IL18R1	2	102984511	Silent	SNP	T	TCGA-HT-7855-01A-11D-2395-08		102984511	140214862	8	28134											
UXS1	80146	broad.mit.edu	37	2	106710502	106710505	+	Frame_Shift_Del	DEL	CTTT	CTTT	-			TCGA-HT-7855-01A-11D-2395-08	TCGA-HT-7855-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bc9fea0-cb11-47c4-bfe6-a813ee66a3eb	0ba77c15-05f7-4769-8070-6a2a63a9f466	g.chr2:106710502_106710505delCTTT	ENST00000283148.7	-	15	1352_1355	c.1255_1258delAAAG	c.(1255-1260)aaaggafs	p.KG419fs	UXS1_ENST00000409032.1_Frame_Shift_Del_p.KG246fs|UXS1_ENST00000409501.3_Frame_Shift_Del_p.KG414fs|UXS1_ENST00000540130.1_Frame_Shift_Del_p.KG357fs	NM_001253875.1|NM_025076.4	NP_001240804.1|NP_079352.2	Q8NBZ7	UXS1_HUMAN	UDP-glucuronate decarboxylase 1	414					cellular metabolic process	Golgi cisterna membrane|integral to membrane	coenzyme binding|UDP-glucuronate decarboxylase activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)	17						CGAGTCCGTCCTTTCTTTATTCTG	0.412													35	32	---	---	---	---						-	106710505	CTTT	-	106710502	7	5	275	1	0	1	0	1	0	0	0	0	17169	690	24	0	23	0	UXS1	2	106710502	Frame_Shift_Del	DEL	CTTT	TCGA-HT-7855-01A-11D-2395-08	3725991	106710502	136488871	9	28135											
CCNYL1	151195	broad.mit.edu	37	2	208605430	208605433	+	Splice_Site	DEL	AGTA	AGTA	-			TCGA-HT-7855-01A-11D-2395-08	TCGA-HT-7855-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bc9fea0-cb11-47c4-bfe6-a813ee66a3eb	0ba77c15-05f7-4769-8070-6a2a63a9f466	g.chr2:208605430_208605433delAGTA	ENST00000295414.3	+	6	730	c.519delAGTA	c.(517-519)aca>ac	p.T173fs	CCNYL1_ENST00000339882.5_Intron|CCNYL1_ENST00000392209.3_Splice_Site_p.T103fs			Q8N7R7	CCYL1_HUMAN	cyclin Y-like 1	173	Cyclin N-terminal.				regulation of cyclin-dependent protein kinase activity		protein kinase binding			endometrium(1)|large_intestine(1)|lung(3)	5				LUSC - Lung squamous cell carcinoma(261;0.0731)|Epithelial(149;0.139)|Lung(261;0.14)		ATCCACTTACAGTAAGTGTCACTT	0.289													7	37	---	---	---	---						-	208605433	AGTA	-	208605430	8	5	275	1	0	1	0	1	0	0	1	0	2959	202	7	0	541	0	CCNYL1	2	208605430	Splice_Site	DEL	AGTA	TCGA-HT-7855-01A-11D-2395-08	101894928	208605430	34593943	10	28136											
IDH1	3417	broad.mit.edu	37	2	209113113	209113113	+	Missense_Mutation	SNP	G	G	A	rs121913499		TCGA-HT-7855-01A-11D-2395-08	TCGA-HT-7855-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bc9fea0-cb11-47c4-bfe6-a813ee66a3eb	0ba77c15-05f7-4769-8070-6a2a63a9f466	g.chr2:209113113G>A	ENST00000415913.1	-	4	775	c.394C>T	c.(394-396)Cgt>Tgt	p.R132C	IDH1_ENST00000345146.2_Missense_Mutation_p.R132C|IDH1_ENST00000446179.1_Missense_Mutation_p.R132C	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		TAAGCATGACGACCTATGATG	0.398			Mis		gliobastoma								40	47					0	0	1	0	0	A	209113113	G	A	209113113	3	1	275	1	0	0	0	0	1	0	0	0	7538	1058	37	1	878	1	IDH1	2	209113113	Missense_Mutation	SNP	G	TCGA-HT-7855-01A-11D-2395-08	507683	209113113	34086260	11	28137											
ABCA12	26154	broad.mit.edu	37	2	215843555	215843555	+	Silent	SNP	G	G	A			TCGA-HT-7855-01A-11D-2395-08	TCGA-HT-7855-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bc9fea0-cb11-47c4-bfe6-a813ee66a3eb	0ba77c15-05f7-4769-8070-6a2a63a9f466	g.chr2:215843555G>A	ENST00000272895.7	-	32	5169	c.4950C>T	c.(4948-4950)taC>taT	p.Y1650Y	ABCA12_ENST00000389661.4_Silent_p.Y1332Y	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	1650					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		CTGAAATGCCGTAGCACCCGA	0.458													7	135					0	0	1	0	0	A	215843555	G	A	215843555	2	1	275	1	0	0	0	0	0	0	0	1	30	1140	40	1		1	ABCA12	2	215843555	Silent	SNP	G	TCGA-HT-7855-01A-11D-2395-08	6730442	215843555	27355818	12	28138											
SEC22A	26984	broad.mit.edu	37	3	122944084	122944085	+	Frame_Shift_Ins	INS	-	-	CCGATGGAGT			TCGA-HT-7855-01A-11D-2395-08	TCGA-HT-7855-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bc9fea0-cb11-47c4-bfe6-a813ee66a3eb	0ba77c15-05f7-4769-8070-6a2a63a9f466	g.chr3:122944084_122944085insCCGATGGAGT	ENST00000309934.4	+	3	1377_1378	c.481_482insCCGATGGAGT	c.(481-483)gccfs	p.-161fs	SEC22A_ENST00000481965.2_Intron|SEC22A_ENST00000477063.1_3'UTR|SEC22A_ENST00000492595.1_Frame_Shift_Ins_p.-161fs	NM_012430.4	NP_036562.2	Q96IW7	SC22A_HUMAN	SEC22 vesicle trafficking protein homolog A (S. cerevisiae)						ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|integral to membrane	transporter activity			NS(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)	10				GBM - Glioblastoma multiforme(114;0.0548)		ACTGGGGTCAGCCAATGGAGTC	0.396													18	164	---	---	---	---						CCGATGGAGT	122944085	-	CCGATGGAGT	122944084	7	5	275	1	0	1	1	0	0	0	0	0	14042	971	34	0	491	0	SEC22A	3	122944084	Frame_Shift_Ins	INS	-	TCGA-HT-7855-01A-11D-2395-08		122944084	75078346	13	28139											
ZXDC	79364	broad.mit.edu	37	3	126191130	126191133	+	Frame_Shift_Del	DEL	ATAA	ATAA	-			TCGA-HT-7855-01A-11D-2395-08	TCGA-HT-7855-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bc9fea0-cb11-47c4-bfe6-a813ee66a3eb	0ba77c15-05f7-4769-8070-6a2a63a9f466	g.chr3:126191130_126191133delATAA	ENST00000389709.3	-	2	976_979	c.923_926delTTAT	c.(922-927)tttatcfs	p.FI308fs	ZXDC_ENST00000336332.5_Frame_Shift_Del_p.FI308fs	NM_025112.4	NP_079388.3	Q2QGD7	ZXDC_HUMAN	ZXD family zinc finger C	308					positive regulation of transcription, DNA-dependent	nucleus	C2H2 zinc finger domain binding|identical protein binding|LRR domain binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(1)	17				GBM - Glioblastoma multiforme(114;0.155)		ACTCACTGTGATAAATGTCTTCTC	0.475													44	77	---	---	---	---						-	126191133	ATAA	-	126191130	7	5	275	1	0	1	0	1	0	0	0	0	18292	333	12	0	1692	0	ZXDC	3	126191130	Frame_Shift_Del	DEL	ATAA	TCGA-HT-7855-01A-11D-2395-08	3247046	126191130	71831300	14	28140											
SLCO2A1	6578	broad.mit.edu	37	3	133654661	133654661	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HT-7855-01A-11D-2395-08	TCGA-HT-7855-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bc9fea0-cb11-47c4-bfe6-a813ee66a3eb	0ba77c15-05f7-4769-8070-6a2a63a9f466	g.chr3:133654661G>A	ENST00000310926.4	-	13	2044	c.1771C>T	c.(1771-1773)Cga>Tga	p.R591*	SLCO2A1_ENST00000493729.1_Nonsense_Mutation_p.R515*	NM_005630.2	NP_005621.2	Q92959	SO2A1_HUMAN	solute carrier organic anion transporter family, member 2A1	591					sodium-independent organic anion transport	integral to plasma membrane|membrane fraction	prostaglandin transmembrane transporter activity|protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2)	30						CAGGCCCCTCGCCTCCCCAAG	0.602													4	28					0	0	1	0	0	A	133654661	G	A	133654661	4	1	275	1	0	0	0	0	0	1	0	0	14781	1095	38	1	168	1	SLCO2A1	3	133654661	Nonsense_Mutation	SNP	G	TCGA-HT-7855-01A-11D-2395-08	7463531	133654661	64367769	15	28141											
ATP13A5	344905	broad.mit.edu	37	3	193081122	193081122	+	Missense_Mutation	SNP	G	G	T	rs12637558	byFrequency	TCGA-HT-7855-01A-11D-2395-08	TCGA-HT-7855-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bc9fea0-cb11-47c4-bfe6-a813ee66a3eb	0ba77c15-05f7-4769-8070-6a2a63a9f466	g.chr3:193081122G>T	ENST00000342358.4	-	3	404	c.287C>A	c.(286-288)tCc>tAc	p.S96Y		NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	96			S -> Y (in dbSNP:rs12637558).		ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	p.S96F(1)|p.S96Y(1)		NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		CTTCAGTGTGGATAAGTAGAG	0.398													5	60					0.014758	0.0150313	1	1	0	T	193081122	G	T	193081122	3	4	275	1	0	0	0	0	1	0	0	0	1126	1174	41	5	3479	5	ATP13A5	3	193081122	Missense_Mutation	SNP	G	TCGA-HT-7855-01A-11D-2395-08	59426461	193081122	4941308	16	28142											
RHOH	399	broad.mit.edu	37	4	40245505	40245505	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7855-01A-11D-2395-08	TCGA-HT-7855-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bc9fea0-cb11-47c4-bfe6-a813ee66a3eb	0ba77c15-05f7-4769-8070-6a2a63a9f466	g.chr4:40245505G>A	ENST00000381799.5	+	3	1223	c.499G>A	c.(499-501)Gtc>Atc	p.V167I	RHOH_ENST00000505618.1_Missense_Mutation_p.V167I	NM_001278363.1|NM_001278365.1|NM_001278366.1|NM_001278367.1|NM_001278369.1|NM_004310.4	NP_001265292.1|NP_001265294.1|NP_001265295.1|NP_001265296.1|NP_001265298.1|NP_004301.1	Q15669	RHOH_HUMAN	ras homolog family member H						negative regulation of I-kappaB kinase/NF-kappaB cascade|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|T cell differentiation	cytosol|mitochondrion|plasma membrane	GTP binding|GTPase inhibitor activity|kinase inhibitor activity|Rho GTPase binding			kidney(1)|large_intestine(3)|lung(7)|ovary(1)	12						TGAGTGCGCCGTCCGAACTGC	0.542													34	26					0	0	1	0	0	A	40245505	G	A	40245505	3	1	275	1	0	0	0	0	1	0	0	0	13390	1145	40	1	501	1	RHOH	4	40245505	Missense_Mutation	SNP	G	TCGA-HT-7855-01A-11D-2395-08		40245505	150908771	17	28143											
YTHDC1	91746	broad.mit.edu	37	4	69203308	69203310	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-HT-7855-01A-11D-2395-08	TCGA-HT-7855-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bc9fea0-cb11-47c4-bfe6-a813ee66a3eb	0ba77c15-05f7-4769-8070-6a2a63a9f466	g.chr4:69203308_69203310delAGG	ENST00000344157.4	-	3	774_776	c.439_441delCCT	c.(439-441)cctdel	p.P147del	YTHDC1_ENST00000579690.1_In_Frame_Del_p.P147del|YTHDC1_ENST00000355665.3_In_Frame_Del_p.P147del	NM_001031732.2	NP_001026902.1	Q96MU7	YTDC1_HUMAN	YTH domain containing 1	147										NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	30						CATCTGGCGTAGGAGATTTGGCC	0.404													21	37	---	---	---	---						-	69203310	AGG	-	69203308	7	5	275	1	0	1	0	1	0	0	0	0	17556	407	15	0	1802	0	YTHDC1	4	69203308	In_Frame_Del	DEL	AGG	TCGA-HT-7855-01A-11D-2395-08	28957803	69203308	121950968	18	28144											
ANK2	287	broad.mit.edu	37	4	114277079	114277080	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-HT-7855-01A-11D-2395-08	TCGA-HT-7855-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bc9fea0-cb11-47c4-bfe6-a813ee66a3eb	0ba77c15-05f7-4769-8070-6a2a63a9f466	g.chr4:114277079_114277080delCT	ENST00000357077.4	+	38	7358_7359	c.7305_7306delCT	c.(7303-7308)gactctfs	p.S2436fs	ANK2_ENST00000510275.2_Intron|ANK2_ENST00000264366.6_Frame_Shift_Del_p.S2403fs|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000506722.1_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	2403					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		GCCACAAAGACTCTCTGGAAGC	0.51													45	66	---	---	---	---						-	114277080	CT	-	114277079	7	5	275	1	0	1	0	1	0	0	0	0	617	564	20	0	7520	0	ANK2	4	114277079	Frame_Shift_Del	DEL	CT	TCGA-HT-7855-01A-11D-2395-08	45073771	114277079	76877197	19	28145											
SLC6A3	6531	broad.mit.edu	37	5	1422122	1422122	+	Missense_Mutation	SNP	C	C	T	rs138948519		TCGA-HT-7855-01A-11D-2395-08	TCGA-HT-7855-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bc9fea0-cb11-47c4-bfe6-a813ee66a3eb	0ba77c15-05f7-4769-8070-6a2a63a9f466	g.chr5:1422122C>T	ENST00000270349.9	-	5	788	c.661G>A	c.(661-663)Gtg>Atg	p.V221M	SLC6A3_ENST00000453492.2_Missense_Mutation_p.V221M	NM_001044.4	NP_001035.1	Q01959	SC6A3_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 3	221					cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body		p.V221M(1)		breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)	AGGTGCAGCACGCCACGTCTG	0.662													7	86					0	0	1	0	0	T	1422122	C	T	1422122	3	4	275	1	0	0	0	0	1	0	0	0	14740	536	19	1	1245	1	SLC6A3	5	1422122	Missense_Mutation	SNP	C	TCGA-HT-7855-01A-11D-2395-08		1422122	179493138	20	28146											
C5orf34	375444	broad.mit.edu	37	5	43488036	43488036	+	Silent	SNP	T	T	C			TCGA-HT-7855-01A-11D-2395-08	TCGA-HT-7855-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bc9fea0-cb11-47c4-bfe6-a813ee66a3eb	0ba77c15-05f7-4769-8070-6a2a63a9f466	g.chr5:43488036T>C	ENST00000306862.2	-	12	2070	c.1695A>G	c.(1693-1695)gaA>gaG	p.E565E	RP11-159F24.3_ENST00000505645.1_RNA	NM_198566.2	NP_940968	Q96MH7	CE034_HUMAN	chromosome 5 open reading frame 34	565										breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|stomach(2)	21	Lung NSC(6;2.07e-05)					TCTTTTCAAGTTCAGAAGCAA	0.318													3	15					0	0	1	0	0	C	43488036	T	C	43488036	2	2	275	1	0	0	0	0	0	0	0	1	2308	1722	60	3		3	C5orf34	5	43488036	Silent	SNP	T	TCGA-HT-7855-01A-11D-2395-08	42065914	43488036	137427224	21	28147											
SLC12A2	6558	broad.mit.edu	37	5	127449952	127449952	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7855-01A-11D-2395-08	TCGA-HT-7855-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bc9fea0-cb11-47c4-bfe6-a813ee66a3eb	0ba77c15-05f7-4769-8070-6a2a63a9f466	g.chr5:127449952T>C	ENST00000262461.2	+	3	1114	c.925T>C	c.(925-927)Tca>Cca	p.S309P	SLC12A2_ENST00000343225.4_Missense_Mutation_p.S309P	NM_001046.2	NP_001037.1	P55011	S12A2_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 2	309					potassium ion transport|sodium ion transport|transepithelial ammonium transport|transepithelial chloride transport	integral to plasma membrane|membrane fraction	ammonia transmembrane transporter activity|sodium:potassium:chloride symporter activity			breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		all_cancers(142;0.0972)|Prostate(80;0.151)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	CATTAGATTGTCATGGATTGT	0.373													51	128					0	0	1	0	0	C	127449952	T	C	127449952	3	2	275	1	0	0	0	0	1	0	0	0	14438	1667	58	3	935	3	SLC12A2	5	127449952	Missense_Mutation	SNP	T	TCGA-HT-7855-01A-11D-2395-08	83961916	127449952	53465308	22	28148											
RELL2	285613	broad.mit.edu	37	5	141018562	141018564	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-HT-7855-01A-11D-2395-08	TCGA-HT-7855-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bc9fea0-cb11-47c4-bfe6-a813ee66a3eb	0ba77c15-05f7-4769-8070-6a2a63a9f466	g.chr5:141018562_141018564delAGG	ENST00000297164.3	+	3	1491_1493	c.291_293delAGG	c.(289-294)gaagga>gaa	p.G98del	RELL2_ENST00000518856.1_In_Frame_Del_p.G32del|RELL2_ENST00000518025.1_Intron|RELL2_ENST00000444782.1_In_Frame_Del_p.G98del|RELL2_ENST00000521367.1_In_Frame_Del_p.G32del	NM_173828.4	NP_776189.3	Q8NC24	RELL2_HUMAN	RELT-like 2	98						integral to membrane|plasma membrane				large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGACAGTGAAGGAGAAGGGACA	0.557													7	31	---	---	---	---						-	141018564	AGG	-	141018562	7	5	275	1	0	1	0	1	0	0	0	0	13271	69	3	0	301	0	RELL2	5	141018562	In_Frame_Del	DEL	AGG	TCGA-HT-7855-01A-11D-2395-08	13568610	141018562	39896698	23	28149											
GEMIN5	25929	broad.mit.edu	37	5	154315435	154315438	+	Frame_Shift_Del	DEL	AAGT	AAGT	-			TCGA-HT-7855-01A-11D-2395-08	TCGA-HT-7855-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bc9fea0-cb11-47c4-bfe6-a813ee66a3eb	0ba77c15-05f7-4769-8070-6a2a63a9f466	g.chr5:154315435_154315438delAAGT	ENST00000285873.7	-	3	547_550	c.472_475delACTT	c.(472-477)acttgtfs	p.TC158fs		NM_001252156.1|NM_015465.4	NP_001239085.1|NP_056280.2	Q8TEQ6	GEMI5_HUMAN	gem (nuclear organelle) associated protein 5	158					ncRNA metabolic process|protein complex assembly|spliceosomal snRNP assembly	Cajal body|cytosol|spliceosomal complex	protein binding|snRNA binding			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TGAGGTGAACAAGTAAGACAGAAA	0.353													7	90	---	---	---	---						-	154315438	AAGT	-	154315435	7	5	275	1	0	1	0	1	0	0	0	0	6373	130	5	0	4155	0	GEMIN5	5	154315435	Frame_Shift_Del	DEL	AAGT	TCGA-HT-7855-01A-11D-2395-08	13296873	154315435	26599825	24	28150											
CCNJL	79616	broad.mit.edu	37	5	159707584	159707584	+	Silent	SNP	G	G	A			TCGA-HT-7855-01A-11D-2395-08	TCGA-HT-7855-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bc9fea0-cb11-47c4-bfe6-a813ee66a3eb	0ba77c15-05f7-4769-8070-6a2a63a9f466	g.chr5:159707584G>A	ENST00000393977.3	-	3	513	c.228C>T	c.(226-228)gtC>gtT	p.V76V	CCNJL_ENST00000257536.7_Silent_p.V76V|CCNJL_ENST00000505287.2_Silent_p.V121V|CCNJL_ENST00000541762.1_Silent_p.V75V|CCNJL_ENST00000519673.1_Silent_p.V76V|CCNJL_ENST00000377503.2_5'UTR	NM_024565.5	NP_078841.3	Q8IV13	CCNJL_HUMAN	cyclin J-like	76	Cyclin N-terminal.					nucleus				endometrium(2)|kidney(5)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TGGAGGTGGTGACGTTGTAGC	0.622													5	99					0	0	1	0	0	A	159707584	G	A	159707584	2	1	275	1	0	0	0	0	0	0	0	1	2951	1277	45	2		2	CCNJL	5	159707584	Silent	SNP	G	TCGA-HT-7855-01A-11D-2395-08	5392149	159707584	21207676	25	28151											
BMP6	654	broad.mit.edu	37	6	7727731	7727731	+	Silent	SNP	G	G	A			TCGA-HT-7855-01A-11D-2395-08	TCGA-HT-7855-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bc9fea0-cb11-47c4-bfe6-a813ee66a3eb	0ba77c15-05f7-4769-8070-6a2a63a9f466	g.chr6:7727731G>A	ENST00000283147.6	+	1	702	c.543G>A	c.(541-543)ccG>ccA	p.P181P		NM_001718.4	NP_001709.1	P22004	BMP6_HUMAN	bone morphogenetic protein 6	181					BMP signaling pathway|cartilage development|growth|immune response|positive regulation of aldosterone biosynthetic process|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription from RNA polymerase II promoter|SMAD protein signal transduction	extracellular space	BMP receptor binding|cytokine activity|growth factor activity|protein heterodimerization activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	23	Ovarian(93;0.0721)					CCGCGCACCCGCTCAACCGCA	0.741													3	13					0	0	1	0	0	A	7727731	G	A	7727731	2	1	275	1	0	0	0	0	0	0	0	1	1463	1074	38	1		1	BMP6	6	7727731	Silent	SNP	G	TCGA-HT-7855-01A-11D-2395-08		7727731	163387336	26	28152											
ACAT2	39	broad.mit.edu	37	6	160199292	160199292	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-7855-01A-11D-2395-08	TCGA-HT-7855-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bc9fea0-cb11-47c4-bfe6-a813ee66a3eb	0ba77c15-05f7-4769-8070-6a2a63a9f466	g.chr6:160199292C>G	ENST00000367048.4	+	8	2763	c.1003C>G	c.(1003-1005)Ctt>Gtt	p.L335V	ACAT2_ENST00000472052.1_3'UTR|ACAT2_ENST00000541436.1_Missense_Mutation_p.L364V	NM_005891.2	NP_005882.2	Q9BWD1	THIC_HUMAN	acetyl-CoA acetyltransferase 2	335						mitochondrion|nucleolus	acetyl-CoA C-acetyltransferase activity|protein binding			breast(1)|central_nervous_system(1)|large_intestine(2)|lung(3)|ovary(1)|urinary_tract(1)	9		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.51e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		AGTTAAAGAACTTGGATTAAA	0.388													13	21					0	0	1	0	0	G	160199292	C	G	160199292	3	3	275	1	0	0	0	0	1	0	0	0	122	565	20	4	1033	4	ACAT2	6	160199292	Missense_Mutation	SNP	C	TCGA-HT-7855-01A-11D-2395-08	152471561	160199292	10915775	27	28153											
STK31	56164	broad.mit.edu	37	7	23871943	23871943	+	Nonsense_Mutation	SNP	T	T	A			TCGA-HT-7855-01A-11D-2395-08	TCGA-HT-7855-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bc9fea0-cb11-47c4-bfe6-a813ee66a3eb	0ba77c15-05f7-4769-8070-6a2a63a9f466	g.chr7:23871943T>A	ENST00000354639.3	+	24	3413	c.2949T>A	c.(2947-2949)tgT>tgA	p.C983*	STK31_ENST00000433467.2_Nonsense_Mutation_p.C983*|STK31_ENST00000405627.3_3'UTR|STK31_ENST00000355870.3_Nonsense_Mutation_p.C1006*|STK31_ENST00000428484.1_Nonsense_Mutation_p.C983*	NM_001260504.1|NM_032944.3	NP_001247433.1|NP_116562.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	1006	Protein kinase.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						TGGATAAATGTATGGAGAAGA	0.333													55	50					0	0	1	0	0	A	23871943	T	A	23871943	4	1	275	1	0	0	0	0	0	1	0	0	15352	1644	57	5	3112	5	STK31	7	23871943	Nonsense_Mutation	SNP	T	TCGA-HT-7855-01A-11D-2395-08		23871943	135266720	28	28154											
PABPC1	26986	broad.mit.edu	37	8	101724994	101724995	+	Frame_Shift_Ins	INS	-	-	A	rs140822921	by1000genomes	TCGA-HT-7855-01A-11D-2395-08	TCGA-HT-7855-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bc9fea0-cb11-47c4-bfe6-a813ee66a3eb	0ba77c15-05f7-4769-8070-6a2a63a9f466	g.chr8:101724994_101724995insA	ENST00000318607.5	-	6	1889_1890	c.761_762insT	c.(760-762)aagfs	p.K254fs	PABPC1_ENST00000519004.1_Frame_Shift_Ins_p.K209fs|PABPC1_ENST00000519596.1_5'UTR|PABPC1_ENST00000522387.1_Frame_Shift_Ins_p.K222fs	NM_002568.3	NP_002559.2	P11940	PABP1_HUMAN	poly(A) binding protein, cytoplasmic 1	254	CSDE1-binding.|RRM 3.				mRNA polyadenylation|mRNA stabilization|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|translation	catalytic step 2 spliceosome|cytosol	nucleotide binding|poly(A) RNA binding|protein C-terminus binding|translation activator activity			breast(2)|endometrium(4)|kidney(15)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	40	all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206)			CATTGAGCTCCTTTCCGTTCAT	0.371													8	85	---	---	---	---						A	101724995	-	A	101724994	7	5	275	1	0	1	1	0	0	0	0	0	11410	680	24	0	1184	0	PABPC1	8	101724994	Frame_Shift_Ins	INS	-	TCGA-HT-7855-01A-11D-2395-08		101724994	44639028	29	28155											
OR1J4	26219	broad.mit.edu	37	9	125281597	125281599	+	In_Frame_Del	DEL	TTC	TTC	-			TCGA-HT-7855-01A-11D-2395-08	TCGA-HT-7855-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bc9fea0-cb11-47c4-bfe6-a813ee66a3eb	0ba77c15-05f7-4769-8070-6a2a63a9f466	g.chr9:125281597_125281599delTTC	ENST00000340750.1	+	1	178_180	c.178_180delTTC	c.(178-180)ttcdel	p.F62del		NM_001004452.1	NP_001004452.1	Q8NGS1	OR1J4_HUMAN	olfactory receptor, family 1, subfamily J, member 4	62					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	20						CACCCCCATGTTCTTCTTCCTCA	0.498													133	175	---	---	---	---						-	125281599	TTC	-	125281597	7	5	275	1	0	1	0	1	0	0	0	0	11009	1725	60	0	180	0	OR1J4	9	125281597	In_Frame_Del	DEL	TTC	TCGA-HT-7855-01A-11D-2395-08		125281597	15931834	30	28156											
PTER	9317	broad.mit.edu	37	10	16553190	16553190	+	Missense_Mutation	SNP	A	A	C			TCGA-HT-7855-01A-11D-2395-08	TCGA-HT-7855-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bc9fea0-cb11-47c4-bfe6-a813ee66a3eb	0ba77c15-05f7-4769-8070-6a2a63a9f466	g.chr10:16553190A>C	ENST00000378000.1	+	6	1231	c.985A>C	c.(985-987)Ata>Cta	p.I329L	PTER_ENST00000298942.3_Missense_Mutation_p.I329L|PTER_ENST00000535784.2_Missense_Mutation_p.I329L|PTER_ENST00000423462.2_Missense_Mutation_p.I282L	NM_001001484.2|NM_001261838.1|NM_030664.4	NP_001001484.1|NP_001248767.1|NP_109589.2	Q96BW5	PTER_HUMAN	phosphotriesterase related	329					catabolic process		hydrolase activity, acting on ester bonds|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)	15						GCTGAGAGGCATAACTGAGAA	0.383													7	136					0	0	1	0	0	C	16553190	A	C	16553190	3	2	275	1	0	0	0	0	1	0	0	0	12788	217	8	4	999	4	PTER	10	16553190	Missense_Mutation	SNP	A	TCGA-HT-7855-01A-11D-2395-08		16553190	118981557	31	28157											
OR51B2	79345	broad.mit.edu	37	11	5345181	5345181	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7855-01A-11D-2395-08	TCGA-HT-7855-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bc9fea0-cb11-47c4-bfe6-a813ee66a3eb	0ba77c15-05f7-4769-8070-6a2a63a9f466	g.chr11:5345181A>G	ENST00000328813.2	-	1	401	c.347T>C	c.(346-348)aTg>aCg	p.M116T	HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron	NM_033180.4	NP_149420.4	Q9Y5P1	O51B2_HUMAN	olfactory receptor, family 51, subfamily B, member 2	116					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|biliary_tract(1)|central_nervous_system(1)|large_intestine(6)|lung(21)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATCATATGCCATTGCCAGGAG	0.458													7	85					0	0	1	0	0	G	5345181	A	G	5345181	3	3	275	1	0	0	0	0	1	0	0	0	11137	217	8	3	595	3	OR51B2	11	5345181	Missense_Mutation	SNP	A	TCGA-HT-7855-01A-11D-2395-08		5345181	129661335	32	28158											
ZDHHC5	25921	broad.mit.edu	37	11	57466855	57466857	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-HT-7855-01A-11D-2395-08	TCGA-HT-7855-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bc9fea0-cb11-47c4-bfe6-a813ee66a3eb	0ba77c15-05f7-4769-8070-6a2a63a9f466	g.chr11:57466855_57466857delAGA	ENST00000287169.3	+	11	3309_3311	c.1947_1949delAGA	c.(1945-1950)acagaa>aca	p.E651del	ZDHHC5_ENST00000527985.1_In_Frame_Del_p.E598del	NM_015457.2	NP_056272.2	Q9C0B5	ZDHC5_HUMAN	zinc finger, DHHC-type containing 5	651						integral to membrane	acyltransferase activity|zinc ion binding			endometrium(6)|kidney(3)|large_intestine(3)|lung(5)|skin(1)	18						TCTCTGAGACAGAAGAAGTGGCC	0.512													11	107	---	---	---	---						-	57466857	AGA	-	57466855	7	5	275	1	0	1	0	1	0	0	0	0	17676	175	7	0	1985	0	ZDHHC5	11	57466855	In_Frame_Del	DEL	AGA	TCGA-HT-7855-01A-11D-2395-08	52121674	57466855	77539661	33	28159											
SCGB2A2	4250	broad.mit.edu	37	11	62037739	62037739	+	Silent	SNP	C	C	T	rs137975337	byFrequency	TCGA-HT-7855-01A-11D-2395-08	TCGA-HT-7855-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bc9fea0-cb11-47c4-bfe6-a813ee66a3eb	0ba77c15-05f7-4769-8070-6a2a63a9f466	g.chr11:62037739C>T	ENST00000525380.1	+	1	110	c.51C>T	c.(49-51)taC>taT	p.Y17Y	SCGB2A2_ENST00000227918.2_Silent_p.Y17Y			Q13296	SG2A2_HUMAN	secretoglobin, family 2A, member 2	17						extracellular region	steroid binding			large_intestine(1)|lung(4)|ovary(1)|prostate(1)	7						AGCACTGCTACGCAGGTGAGT	0.592													94	109					0	0	1	0	0	T	62037739	C	T	62037739	2	4	275	1	0	0	0	0	0	0	0	1	13953	547	19	1		1	SCGB2A2	11	62037739	Silent	SNP	C	TCGA-HT-7855-01A-11D-2395-08	4570884	62037739	72968777	34	28160											
C12orf71	728858	broad.mit.edu	37	12	27234398	27234398	+	Missense_Mutation	SNP	C	C	A			TCGA-HT-7855-01A-11D-2395-08	TCGA-HT-7855-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bc9fea0-cb11-47c4-bfe6-a813ee66a3eb	0ba77c15-05f7-4769-8070-6a2a63a9f466	g.chr12:27234398C>A	ENST00000429849.2	-	2	549	c.519G>T	c.(517-519)atG>atT	p.M173I		NM_001080406.1	NP_001073875.1	A8MTZ7	CL071_HUMAN	chromosome 12 open reading frame 71	173										endometrium(2)|large_intestine(1)|lung(4)|skin(1)	8						CCTGGCTTATCATCTGCCATG	0.463													38	61					4.92203e-23	5.20599e-23	1	1	0	A	27234398	C	A	27234398	3	1	275	1	0	0	0	0	1	0	0	0	1718	826	29	5	294	5	C12orf71	12	27234398	Missense_Mutation	SNP	C	TCGA-HT-7855-01A-11D-2395-08		27234398	106617497	35	28161											
CALCOCO1	57658	broad.mit.edu	37	12	54110173	54110175	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-HT-7855-01A-11D-2395-08	TCGA-HT-7855-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bc9fea0-cb11-47c4-bfe6-a813ee66a3eb	0ba77c15-05f7-4769-8070-6a2a63a9f466	g.chr12:54110173_54110175delCTC	ENST00000548263.1	-	8	922_924	c.874_876delGAG	c.(874-876)gagdel	p.E292del	CALCOCO1_ENST00000430117.2_Intron|CALCOCO1_ENST00000550804.1_In_Frame_Del_p.E292del|CALCOCO1_ENST00000262059.4_In_Frame_Del_p.E292del			Q9P1Z2	CACO1_HUMAN	calcium binding and coiled-coil domain 1	292					steroid hormone receptor signaling pathway|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm	armadillo repeat domain binding|beta-catenin binding|ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|sequence-specific DNA binding|transcription regulatory region DNA binding			NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	28						AGTGATGGTTCTCCTGTTGTGCC	0.542													40	50	---	---	---	---						-	54110175	CTC	-	54110173	7	5	275	1	0	1	0	1	0	0	0	0	2595	912	32	0	1231	0	CALCOCO1	12	54110173	In_Frame_Del	DEL	CTC	TCGA-HT-7855-01A-11D-2395-08	26875775	54110173	79741722	36	28162											
OR10G3	26533	broad.mit.edu	37	14	22038134	22038134	+	Missense_Mutation	SNP	C	C	T	rs142649226	byFrequency	TCGA-HT-7855-01A-11D-2395-08	TCGA-HT-7855-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bc9fea0-cb11-47c4-bfe6-a813ee66a3eb	0ba77c15-05f7-4769-8070-6a2a63a9f466	g.chr14:22038134C>T	ENST00000303532.1	-	1	741	c.742G>A	c.(742-744)Gtg>Atg	p.V248M		NM_001005465.1	NP_001005465.1	Q8NGC4	O10G3_HUMAN	olfactory receptor, family 10, subfamily G, member 3	248					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V248M(1)|p.V248L(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)	15	all_cancers(95;0.000987)			GBM - Glioblastoma multiforme(265;0.0139)		ACGGTGACCACGGTTACATGG	0.577													20	110					0	0	1	0	0	T	22038134	C	T	22038134	3	4	275	1	0	0	0	0	1	0	0	0	10948	536	19	1	202	1	OR10G3	14	22038134	Missense_Mutation	SNP	C	TCGA-HT-7855-01A-11D-2395-08		22038134	85311406	37	28163											
FBXO33	254170	broad.mit.edu	37	14	39870639	39870639	+	Silent	SNP	G	G	A	rs144987416		TCGA-HT-7855-01A-11D-2395-08	TCGA-HT-7855-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bc9fea0-cb11-47c4-bfe6-a813ee66a3eb	0ba77c15-05f7-4769-8070-6a2a63a9f466	g.chr14:39870639G>A	ENST00000298097.7	-	3	1474	c.1137C>T	c.(1135-1137)atC>atT	p.I379I	FBXO33_ENST00000554190.1_Intron	NM_203301.3	NP_976046.1	Q7Z6M2	FBX33_HUMAN	F-box protein 33	379										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|urinary_tract(1)	9	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00121)|Epithelial(34;0.169)	GBM - Glioblastoma multiforme(112;0.0425)		CTTCACTCTTGATATCAAAAG	0.398													43	53					0	0	1	0	0	A	39870639	G	A	39870639	2	1	275	1	0	0	0	0	0	0	0	1	5776	1280	45	2		2	FBXO33	14	39870639	Silent	SNP	G	TCGA-HT-7855-01A-11D-2395-08	17832505	39870639	67478901	38	28164											
SLC28A2	9153	broad.mit.edu	37	15	45561537	45561537	+	Splice_Site	SNP	T	T	C			TCGA-HT-7855-01A-11D-2395-08	TCGA-HT-7855-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bc9fea0-cb11-47c4-bfe6-a813ee66a3eb	0ba77c15-05f7-4769-8070-6a2a63a9f466	g.chr15:45561537T>C	ENST00000347644.3	+	14	1435	c.1370T>C	c.(1369-1371)gTc>gCc	p.V457A	CTD-2651B20.3_ENST00000561404.1_RNA|CTD-2651B20.3_ENST00000560344.1_RNA	NM_004212.3	NP_004203.2	O43868	S28A2_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 2	457					nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding|nucleoside:sodium symporter activity|purine nucleoside transmembrane transporter activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(4)|skin(1)	26		all_cancers(109;8.53e-07)|all_epithelial(112;1.39e-05)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;3.77e-16)|GBM - Glioblastoma multiforme(94;2.71e-06)		TTCACTCAGGTCATCTGCTCC	0.478													32	112					0	0	1	0	0	C	45561537	T	C	45561537	5	2	275	1	0	0	0	0	0	0	1	0	14587	1681	58	3	1420	3	SLC28A2	15	45561537	Splice_Site	SNP	T	TCGA-HT-7855-01A-11D-2395-08		45561537	56969855	39	28165											
KIAA0556	23247	broad.mit.edu	37	16	27640072	27640072	+	Silent	SNP	T	T	C			TCGA-HT-7855-01A-11D-2395-08	TCGA-HT-7855-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bc9fea0-cb11-47c4-bfe6-a813ee66a3eb	0ba77c15-05f7-4769-8070-6a2a63a9f466	g.chr16:27640072T>C	ENST00000261588.4	+	4	250	c.231T>C	c.(229-231)aaT>aaC	p.N77N		NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	77										breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						ACGGTGCCAATTCGGAGCTGA	0.522													43	142					0	0	1	0	0	C	27640072	T	C	27640072	2	2	275	1	0	0	0	0	0	0	0	1	8225	1490	52	3		3	KIAA0556	16	27640072	Silent	SNP	T	TCGA-HT-7855-01A-11D-2395-08		27640072	62714681	40	28166											
TP53	7157	broad.mit.edu	37	17	7578542	7578542	+	Missense_Mutation	SNP	G	G	C			TCGA-HT-7855-01A-11D-2395-08	TCGA-HT-7855-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bc9fea0-cb11-47c4-bfe6-a813ee66a3eb	0ba77c15-05f7-4769-8070-6a2a63a9f466	g.chr17:7578542G>C	ENST00000420246.2	-	5	520	c.388C>G	c.(388-390)Ctc>Gtc	p.L130V	TP53_ENST00000359597.4_Missense_Mutation_p.L130V|TP53_ENST00000445888.2_Missense_Mutation_p.L130V|TP53_ENST00000269305.4_Missense_Mutation_p.L130V|TP53_ENST00000455263.2_Missense_Mutation_p.L130V|TP53_ENST00000413465.2_Missense_Mutation_p.L130V	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	130	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		L -> F (in sporadic cancers; somatic mutation).|L -> H (in sporadic cancers; somatic mutation).|L -> I (in a sporadic cancer; somatic mutation).|L -> P (in sporadic cancers; somatic mutation).|L -> R (in sporadic cancers; somatic mutation).|L -> V (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.L130F(16)|p.L130V(11)|p.0?(8)|p.Y126_K132delYSPALNK(6)|p.L37F(3)|p.Y126_N131delYSPALN(3)|p.L130fs*19(2)|p.Y126fs*11(1)|p.S127_Q136del10(1)|p.A129_L130insXX(1)|p.A129_N131delALN(1)|p.V73fs*9(1)|p.Y126fs*18(1)|p.L130fs*39(1)|p.L130fs*16(1)|p.A129_K132delALNK(1)|p.L130_M133delLNKM(1)|p.N131fs*27(1)|p.P13fs*18(1)|p.S127fs*36(1)|p.L130del(1)|p.L130fs*40(1)|p.L130fs*41(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)		ATCTTGTTGAGGGCAGGGGAG	0.552		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)			30	3					0	0	1	0	0	C	7578542	G	C	7578542	3	2	275	1	0	0	0	0	1	0	0	0	16442	1000	35	4	910	4	TP53	17	7578542	Missense_Mutation	SNP	G	TCGA-HT-7855-01A-11D-2395-08		7578542	73616668	41	28167											
MBD1	4152	broad.mit.edu	37	18	47796399	47796399	+	Missense_Mutation	SNP	A	A	C			TCGA-HT-7855-01A-11D-2395-08	TCGA-HT-7855-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bc9fea0-cb11-47c4-bfe6-a813ee66a3eb	0ba77c15-05f7-4769-8070-6a2a63a9f466	g.chr18:47796399A>C	ENST00000339998.6	-	14	1773	c.1635T>G	c.(1633-1635)atT>atG	p.I545M	MBD1_ENST00000424334.2_Intron|MBD1_ENST00000587605.1_Intron|MBD1_ENST00000436910.1_Intron|MBD1_ENST00000349085.2_Intron|MBD1_ENST00000382948.5_Intron|MBD1_ENST00000588937.1_Intron|MBD1_ENST00000590208.1_Intron|MBD1_ENST00000585672.1_Intron|MBD1_ENST00000591416.1_3'UTR|MBD1_ENST00000353909.3_Intron|MBD1_ENST00000269471.5_Intron|MBD1_ENST00000585595.1_Intron|MBD1_ENST00000347968.3_Intron|MBD1_ENST00000269468.5_Intron	NM_001204142.1	NP_001191071.1	Q9UIS9	MBD1_HUMAN	methyl-CpG binding domain protein 1	0	TRD.				negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|nuclear speck	methyl-CpG binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36						CAATCAAATAAATTTCATATA	0.378													5	79					0	0	1	0	0	C	47796399	A	C	47796399	3	2	275	1	0	0	0	0	1	0	0	0	9392	29	1	5		5	MBD1	18	47796399	Missense_Mutation	SNP	A	TCGA-HT-7855-01A-11D-2395-08		47796399	30280849	42	28168											
MYO1F	4542	broad.mit.edu	37	19	8620581	8620581	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7855-01A-11D-2395-08	TCGA-HT-7855-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bc9fea0-cb11-47c4-bfe6-a813ee66a3eb	0ba77c15-05f7-4769-8070-6a2a63a9f466	g.chr19:8620581C>T	ENST00000338257.8	-	2	370	c.103G>A	c.(103-105)Gcc>Acc	p.A35T		NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN	myosin IF	35	Myosin head-like.					unconventional myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						CGGAGGTTGGCGGCAATGGCG	0.617													26	61					0	0	1	0	0	T	8620581	C	T	8620581	3	4	275	1	0	0	0	0	1	0	0	0	10121	768	27	1	3301	1	MYO1F	19	8620581	Missense_Mutation	SNP	C	TCGA-HT-7855-01A-11D-2395-08		8620581	50508402	43	28169											
ICAM3	3385	broad.mit.edu	37	19	10445307	10445307	+	Silent	SNP	A	A	G			TCGA-HT-7855-01A-11D-2395-08	TCGA-HT-7855-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bc9fea0-cb11-47c4-bfe6-a813ee66a3eb	0ba77c15-05f7-4769-8070-6a2a63a9f466	g.chr19:10445307A>G	ENST00000589261.1	-	5	1390	c.858T>C	c.(856-858)aaT>aaC	p.N286N	ICAM3_ENST00000160262.5_Silent_p.N363N			P32942	ICAM3_HUMAN	intercellular adhesion molecule 3	363	Ig-like C2-type 3.				cell-cell adhesion|regulation of immune response	integral to plasma membrane	integrin binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	13			OV - Ovarian serous cystadenocarcinoma(20;6.13e-09)|Epithelial(33;9.69e-06)|all cancers(31;2.05e-05)			TCTCGGTAGCATTTAGCTGAA	0.632													35	55					0	0	1	0	0	G	10445307	A	G	10445307	2	3	275	1	0	0	0	0	0	0	0	1	7525	214	8	3		3	ICAM3	19	10445307	Silent	SNP	A	TCGA-HT-7855-01A-11D-2395-08	1824726	10445307	48683676	44	28170											
SMARCA4	6597	broad.mit.edu	37	19	11106926	11106928	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-HT-7855-01A-11D-2395-08	TCGA-HT-7855-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bc9fea0-cb11-47c4-bfe6-a813ee66a3eb	0ba77c15-05f7-4769-8070-6a2a63a9f466	g.chr19:11106926_11106928delAGA	ENST00000358026.2	+	10	1915_1917	c.1631_1633delAGA	c.(1630-1635)cagaag>cag	p.K546del	SMARCA4_ENST00000429416.3_In_Frame_Del_p.K546del|SMARCA4_ENST00000590574.1_In_Frame_Del_p.K546del|SMARCA4_ENST00000444061.3_In_Frame_Del_p.K546del|SMARCA4_ENST00000413806.3_In_Frame_Del_p.K546del|SMARCA4_ENST00000589677.1_In_Frame_Del_p.K546del|SMARCA4_ENST00000541122.2_In_Frame_Del_p.K546del|SMARCA4_ENST00000344626.4_In_Frame_Del_p.K546del|SMARCA4_ENST00000450717.3_In_Frame_Del_p.K546del	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	546					chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				CTCATCGACCAGAAGAAGGACAA	0.576			"F, N, Mis"		NSCLC								42	160	---	---	---	---						-	11106928	AGA	-	11106926	7	5	275	1	0	1	0	1	0	0	0	0	14824	188	7	0	1665	0	SMARCA4	19	11106926	In_Frame_Del	DEL	AGA	TCGA-HT-7855-01A-11D-2395-08	661619	11106926	48022057	45	28171											
EID2B	126272	broad.mit.edu	37	19	40023429	40023429	+	Missense_Mutation	SNP	G	G	C			TCGA-HT-7855-01A-11D-2395-08	TCGA-HT-7855-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bc9fea0-cb11-47c4-bfe6-a813ee66a3eb	0ba77c15-05f7-4769-8070-6a2a63a9f466	g.chr19:40023429G>C	ENST00000326282.4	-	1	65	c.14C>G	c.(13-15)aCt>aGt	p.T5S	EID2B_ENST00000601837.1_5'UTR|CTB-60E11.9_ENST00000594676.1_RNA	NM_152361.1	NP_689574.1	Q96D98	EID2B_HUMAN	EP300 interacting inhibitor of differentiation 2B	5					cell differentiation|muscle organ development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				endometrium(1)|lung(1)|urinary_tract(1)	3	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;8.61e-26)|all cancers(26;2.76e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CAACAGCCCAGTCGGCTCCGC	0.647											OREG0025463	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	19					0	0	1	0	0	C	40023429	G	C	40023429	3	2	275	1	0	0	0	0	1	0	0	0	5014	1029	36	4	475	4	EID2B	19	40023429	Missense_Mutation	SNP	G	TCGA-HT-7855-01A-11D-2395-08	28916503	40023429	19105554	46	28172											
TMPRSS6	164656	broad.mit.edu	37	22	37469676	37469676	+	Missense_Mutation	SNP	G	G	C			TCGA-HT-7855-01A-11D-2395-08	TCGA-HT-7855-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bc9fea0-cb11-47c4-bfe6-a813ee66a3eb	0ba77c15-05f7-4769-8070-6a2a63a9f466	g.chr22:37469676G>C	ENST00000381792.2	-	13	1591	c.1451C>G	c.(1450-1452)gCc>gGc	p.A484G	TMPRSS6_ENST00000406856.1_Missense_Mutation_p.A484G|TMPRSS6_ENST00000346753.3_Missense_Mutation_p.A493G|TMPRSS6_ENST00000406725.1_Missense_Mutation_p.A484G			Q8IU80	TMPS6_HUMAN	transmembrane protease, serine 6	493	LDL-receptor class A 1.				angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis	integral to membrane|intracellular|plasma membrane	serine-type endopeptidase activity			breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						CTGGAATGTGGCTCTGCAAAC	0.587													11	96					0	0	1	0	0	C	37469676	G	C	37469676	3	2	275	1	0	0	0	0	1	0	0	0	16311	1203	42	5	981	5	TMPRSS6	22	37469676	Missense_Mutation	SNP	G	TCGA-HT-7855-01A-11D-2395-08		37469676	13834890	47	28173											
ATRX	546	broad.mit.edu	37	X	76918950	76918951	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-HT-7855-01A-11D-2395-08	TCGA-HT-7855-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bc9fea0-cb11-47c4-bfe6-a813ee66a3eb	0ba77c15-05f7-4769-8070-6a2a63a9f466	g.chrX:76918950_76918951delCA	ENST00000373344.5	-	12	4254_4255	c.4040_4041delTG	c.(4039-4041)gtgfs	p.V1347fs	ATRX_ENST00000395603.3_Frame_Shift_Del_p.V1309fs|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1347					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)	CTCCGTCACTCACAGTCAATTT	0.361			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						27	5	---	---	---	---						-	76918951	CA	-	76918950	7	5	275	1	0	1	0	1	0	0	0	0	1206	813	29	0	3533	0	ATRX	23	76918950	Frame_Shift_Del	DEL	CA	TCGA-HT-7855-01A-11D-2395-08		76918950	78351610	48	28174											
CLCNKB	1188	broad.mit.edu	37	1	16377498	16377498	+	Silent	SNP	G	G	A			TCGA-HT-7856-01A-11D-2395-08	TCGA-HT-7856-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1d5590-b04f-4196-86f0-d3887c399996	36437e51-9b37-4436-919f-9a5e82f7cf8f	g.chr1:16377498G>A	ENST00000375679.4	+	12	1293	c.1182G>A	c.(1180-1182)ccG>ccA	p.P394P	CLCNKB_ENST00000375667.3_Silent_p.P225P	NM_000085.4	NP_000076.2			chloride channel, voltage-sensitive Kb											breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	21		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)		GGTACCACCCGCGGTTCACCA	0.632													10	49					0	0	1	0	0	A	16377498	G	A	16377498	2	1	276	1	0	0	0	0	0	0	0	1	3493	1074	38	1		1	CLCNKB	1	16377498	Silent	SNP	G	TCGA-HT-7856-01A-11D-2395-08		16377498	232873123	1	28175											
MERTK	10461	broad.mit.edu	37	2	112777090	112777090	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7856-01A-11D-2395-08	TCGA-HT-7856-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1d5590-b04f-4196-86f0-d3887c399996	36437e51-9b37-4436-919f-9a5e82f7cf8f	g.chr2:112777090G>A	ENST00000295408.4	+	16	2437	c.2180G>A	c.(2179-2181)cGa>cAa	p.R727Q	MERTK_ENST00000421804.2_Missense_Mutation_p.R727Q|MERTK_ENST00000409780.1_Missense_Mutation_p.R551Q			Q12866	MERTK_HUMAN	c-mer proto-oncogene tyrosine kinase	727	Protein kinase.				cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						TTAGCTGCTCGAAACTGCATG	0.458													6	43					0	0	1	0	0	A	112777090	G	A	112777090	3	1	276	1	0	0	0	0	1	0	0	0	9529	1058	37	1	2242	1	MERTK	2	112777090	Missense_Mutation	SNP	G	TCGA-HT-7856-01A-11D-2395-08		112777090	130422283	2	28176											
GOLGA4	2803	broad.mit.edu	37	3	37363363	37363363	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7856-01A-11D-2395-08	TCGA-HT-7856-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1d5590-b04f-4196-86f0-d3887c399996	36437e51-9b37-4436-919f-9a5e82f7cf8f	g.chr3:37363363G>A	ENST00000361924.2	+	13	2061	c.1687G>A	c.(1687-1689)Gag>Aag	p.E563K	GOLGA4_ENST00000444882.1_Intron|GOLGA4_ENST00000356847.4_Missense_Mutation_p.E585K	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN	golgin A4	563	Glu-rich.				Golgi to plasma membrane protein transport	Golgi membrane|trans-Golgi network	protein binding			NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						GCAAGAAGCAGAGACTTACAG	0.348													5	32					0	0	1	0	0	A	37363363	G	A	37363363	3	1	276	1	0	0	0	0	1	0	0	0	6597	943	33	2	1807	2	GOLGA4	3	37363363	Missense_Mutation	SNP	G	TCGA-HT-7856-01A-11D-2395-08		37363363	160659067	3	28177											
POU1F1	5449	broad.mit.edu	37	3	87325590	87325590	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7856-01A-11D-2395-08	TCGA-HT-7856-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1d5590-b04f-4196-86f0-d3887c399996	36437e51-9b37-4436-919f-9a5e82f7cf8f	g.chr3:87325590G>A	ENST00000350375.2	-	1	147	c.23C>T	c.(22-24)tCg>tTg	p.S8L	POU1F1_ENST00000560656.1_Missense_Mutation_p.S8L|POU1F1_ENST00000344265.3_Missense_Mutation_p.S8L	NM_000306.2	NP_000297.1	P28069	PIT1_HUMAN	POU class 1 homeobox 1	8					negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(2)	18	all_cancers(8;0.104)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00229)|Lung(72;0.00677)		GGTATCAGCCGAAGTAAAAGC	0.458													10	23					0	0	1	0	0	A	87325590	G	A	87325590	3	1	276	1	0	0	0	0	1	0	0	0	12315	1059	37	1	954	1	POU1F1	3	87325590	Missense_Mutation	SNP	G	TCGA-HT-7856-01A-11D-2395-08	49962227	87325590	110696840	4	28178											
RINT1	60561	broad.mit.edu	37	7	105177177	105177177	+	Missense_Mutation	SNP	A	A	C			TCGA-HT-7856-01A-11D-2395-08	TCGA-HT-7856-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1d5590-b04f-4196-86f0-d3887c399996	36437e51-9b37-4436-919f-9a5e82f7cf8f	g.chr7:105177177A>C	ENST00000257700.2	+	3	485	c.254A>C	c.(253-255)aAa>aCa	p.K85T		NM_021930.4	NP_068749.3	Q6NUQ1	RINT1_HUMAN	RAD50 interactor 1	85					cell cycle|G2/M transition DNA damage checkpoint|protein transport|vesicle-mediated transport	endoplasmic reticulum membrane	protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						ACAGTAAGTAAAATGCAGTTA	0.284													4	24					0	0	1	0	0	C	105177177	A	C	105177177	3	2	276	1	0	0	0	0	1	0	0	0	13428	14	1	5	264	5	RINT1	7	105177177	Missense_Mutation	SNP	A	TCGA-HT-7856-01A-11D-2395-08		105177177	53961486	5	28179	131	3									
RINT1	60561	broad.mit.edu	37	7	105177178	105177178	+	Missense_Mutation	SNP	A	A	T			TCGA-HT-7856-01A-11D-2395-08	TCGA-HT-7856-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1d5590-b04f-4196-86f0-d3887c399996	36437e51-9b37-4436-919f-9a5e82f7cf8f	g.chr7:105177178A>T	ENST00000257700.2	+	3	486	c.255A>T	c.(253-255)aaA>aaT	p.K85N		NM_021930.4	NP_068749.3	Q6NUQ1	RINT1_HUMAN	RAD50 interactor 1	85					cell cycle|G2/M transition DNA damage checkpoint|protein transport|vesicle-mediated transport	endoplasmic reticulum membrane	protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						CAGTAAGTAAAATGCAGTTAG	0.279													4	22					0	0	1	0	0	T	105177178	A	T	105177178	3	4	276	1	0	0	0	0	1	0	0	0	13428	11	1	5	265	5	RINT1	7	105177178	Missense_Mutation	SNP	A	TCGA-HT-7856-01A-11D-2395-08	1	105177178	53961485	6	28180	131	3									
RINT1	60561	broad.mit.edu	37	7	105177182	105177182	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-7856-01A-11D-2395-08	TCGA-HT-7856-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1d5590-b04f-4196-86f0-d3887c399996	36437e51-9b37-4436-919f-9a5e82f7cf8f	g.chr7:105177182C>G	ENST00000257700.2	+	3	490	c.259C>G	c.(259-261)Cag>Gag	p.Q87E		NM_021930.4	NP_068749.3	Q6NUQ1	RINT1_HUMAN	RAD50 interactor 1	87					cell cycle|G2/M transition DNA damage checkpoint|protein transport|vesicle-mediated transport	endoplasmic reticulum membrane	protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						AAGTAAAATGCAGTTAGAAGA	0.264													4	21					0	0	1	0	0	G	105177182	C	G	105177182	3	3	276	1	0	0	0	0	1	0	0	0	13428	711	25	5	269	5	RINT1	7	105177182	Missense_Mutation	SNP	C	TCGA-HT-7856-01A-11D-2395-08	4	105177182	53961481	7	28181	131	3									
IMPDH1	3614	broad.mit.edu	37	7	128040207	128040207	+	Silent	SNP	C	C	T			TCGA-HT-7856-01A-11D-2395-08	TCGA-HT-7856-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1d5590-b04f-4196-86f0-d3887c399996	36437e51-9b37-4436-919f-9a5e82f7cf8f	g.chr7:128040207C>T	ENST00000338791.6	-	9	1166	c.816G>A	c.(814-816)gtG>gtA	p.V272V	IMPDH1_ENST00000378717.4_Silent_p.V203V|IMPDH1_ENST00000348127.6_Silent_p.V236V|IMPDH1_ENST00000470772.1_Silent_p.V186V|IMPDH1_ENST00000354269.5_Silent_p.V262V|IMPDH1_ENST00000496200.1_Silent_p.V162V|IMPDH1_ENST00000419067.2_Silent_p.V239V|IMPDH1_ENST00000343214.4_Silent_p.V162V|IMPDH1_ENST00000480861.1_Silent_p.V182V	NM_000883.3	NP_000874.2	P20839	IMDH1_HUMAN	IMP (inosine 5'-monophosphate) dehydrogenase 1	187					GMP biosynthetic process|purine base metabolic process	cytosol|nucleus	DNA binding|IMP dehydrogenase activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)	22					Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|NADH(DB00157)|Ribavirin(DB00811)|Thioguanine(DB00352)	CTGCTGGAGCCACCACCAGTT	0.567													21	129					0	0	1	0	0	T	128040207	C	T	128040207	2	4	276	1	0	0	0	0	0	0	0	1	7770	581	21	2		2	IMPDH1	7	128040207	Silent	SNP	C	TCGA-HT-7856-01A-11D-2395-08	22863025	128040207	31098456	8	28182											
SLC1A2	6506	broad.mit.edu	37	11	35336644	35336644	+	Missense_Mutation	SNP	G	G	C			TCGA-HT-7856-01A-11D-2395-08	TCGA-HT-7856-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1d5590-b04f-4196-86f0-d3887c399996	36437e51-9b37-4436-919f-9a5e82f7cf8f	g.chr11:35336644G>C	ENST00000278379.3	-	3	518	c.236C>G	c.(235-237)gCc>gGc	p.A79G	SLC1A2_ENST00000606205.1_Missense_Mutation_p.A79G|SLC1A2_ENST00000395753.1_Missense_Mutation_p.A70G|SLC1A2_ENST00000395750.1_Missense_Mutation_p.A70G	NM_004171.3	NP_004162.2	P43004	EAA2_HUMAN	solute carrier family 1 (glial high affinity glutamate transporter), member 2	79					D-aspartate import|L-glutamate import|synaptic transmission	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|urinary_tract(1)	24	all_lung(20;0.211)|all_epithelial(35;0.234)	all_hematologic(20;0.109)	STAD - Stomach adenocarcinoma(6;0.00731)		L-Glutamic Acid(DB00142)	CCCTGGGAAGGCTATTAACAT	0.478													5	56					0	0	1	0	0	C	35336644	G	C	35336644	3	2	276	1	0	0	0	0	1	0	0	0	14487	1203	42	5	1524	5	SLC1A2	11	35336644	Missense_Mutation	SNP	G	TCGA-HT-7856-01A-11D-2395-08		35336644	99669872	9	28183											
JAM3	83700	broad.mit.edu	37	11	134018707	134018707	+	Silent	SNP	C	C	T	rs150992119	by1000genomes	TCGA-HT-7856-01A-11D-2395-08	TCGA-HT-7856-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1d5590-b04f-4196-86f0-d3887c399996	36437e51-9b37-4436-919f-9a5e82f7cf8f	g.chr11:134018707C>T	ENST00000299106.4	+	8	1050	c.891C>T	c.(889-891)gaC>gaT	p.D297D	JAM3_ENST00000441717.3_Silent_p.D246D|JAM3_ENST00000529443.2_Silent_p.D342D			Q9BX67	JAM3_HUMAN	junctional adhesion molecule 3	297					angiogenesis|blood coagulation|regulation of neutrophil chemotaxis	cell-cell contact zone|desmosome|extracellular space|integral to membrane	integrin binding			breast(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)	10	all_hematologic(175;0.127)	all_cancers(12;1.06e-21)|all_epithelial(12;3.37e-16)|all_lung(97;7.03e-06)|Lung NSC(97;1.67e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0506)|Esophageal squamous(93;0.0566)		Epithelial(10;1.55e-09)|BRCA - Breast invasive adenocarcinoma(10;1.35e-08)|all cancers(11;2.81e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00402)|Lung(977;0.245)		TCCGCACTGACGAGGAGGTAA	0.463													6	29					0	0	1	0	0	T	134018707	C	T	134018707	2	4	276	1	0	0	0	0	0	0	0	1	7988	535	19	1		1	JAM3	11	134018707	Silent	SNP	C	TCGA-HT-7856-01A-11D-2395-08	98682063	134018707	987809	10	28184											
AMHR2	269	broad.mit.edu	37	12	53825209	53825209	+	Silent	SNP	C	C	T			TCGA-HT-7856-01A-11D-2395-08	TCGA-HT-7856-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1d5590-b04f-4196-86f0-d3887c399996	36437e51-9b37-4436-919f-9a5e82f7cf8f	g.chr12:53825209C>T	ENST00000257863.4	+	11	1754	c.1674C>T	c.(1672-1674)ggC>ggT	p.G558G	AMHR2_ENST00000379791.3_Silent_p.G463G|AMHR2_ENST00000550311.1_3'UTR	NM_001164690.1|NM_020547.2	NP_001158162.1|NP_065434.1	Q16671	AMHR2_HUMAN	anti-Mullerian hormone receptor, type II	558					Mullerian duct regression		ATP binding|hormone binding|metal ion binding			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|skin(2)	34					Adenosine triphosphate(DB00171)	TTCAGCAAGGCCCTTGTTCCA	0.517													11	95					0	0	1	0	0	T	53825209	C	T	53825209	2	4	276	1	0	0	0	0	0	0	0	1	569	726	26	2		2	AMHR2	12	53825209	Silent	SNP	C	TCGA-HT-7856-01A-11D-2395-08		53825209	80026686	11	28185											
ANKRD52	283373	broad.mit.edu	37	12	56645997	56645997	+	Silent	SNP	A	A	G			TCGA-HT-7856-01A-11D-2395-08	TCGA-HT-7856-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1d5590-b04f-4196-86f0-d3887c399996	36437e51-9b37-4436-919f-9a5e82f7cf8f	g.chr12:56645997A>G	ENST00000267116.7	-	14	1594	c.1473T>C	c.(1471-1473)tcT>tcC	p.S491S		NM_173595.3	NP_775866.2	Q8NB46	ANR52_HUMAN	ankyrin repeat domain 52	491							protein binding			endometrium(9)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(1)	29						AGTGGAGGGGAGAGCAGCCTT	0.577													12	87					0	0	1	0	0	G	56645997	A	G	56645997	2	3	276	1	0	0	0	0	0	0	0	1	672	291	11	3		3	ANKRD52	12	56645997	Silent	SNP	A	TCGA-HT-7856-01A-11D-2395-08	2820788	56645997	77205898	12	28186											
TRPC4	7223	broad.mit.edu	37	13	38357494	38357494	+	Translation_Start_Site	SNP	G	G	A	rs12583681	by1000genomes	TCGA-HT-7856-01A-11D-2395-08	TCGA-HT-7856-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1d5590-b04f-4196-86f0-d3887c399996	36437e51-9b37-4436-919f-9a5e82f7cf8f	g.chr13:38357494G>A	ENST00000379705.3	-	0	834				TRPC4_ENST00000426868.2_De_novo_Start_OutOfFrame|TRPC4_ENST00000379681.3_De_novo_Start_OutOfFrame|TRPC4_ENST00000338947.5_De_novo_Start_OutOfFrame|TRPC4_ENST00000447043.1_De_novo_Start_OutOfFrame|TRPC4_ENST00000379673.2_De_novo_Start_OutOfFrame|TRPC4_ENST00000355779.2_De_novo_Start_OutOfFrame|TRPC4_ENST00000358477.2_De_novo_Start_OutOfFrame			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4						axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		CTATTTCTTCGTCTCTGAAAG	0.343													3	24					0	0	1	0	0	A	38357494	G	A	38357494	1	1	276	1	0	0	0	0	0	0	0	0	16641	1160	40	1		1	TRPC4	13	38357494	Translation_Start_Site	SNP	G	TCGA-HT-7856-01A-11D-2395-08		38357494	76812384	13	28187											
PGF	5228	broad.mit.edu	37	14	75416122	75416122	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7856-01A-11D-2395-08	TCGA-HT-7856-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1d5590-b04f-4196-86f0-d3887c399996	36437e51-9b37-4436-919f-9a5e82f7cf8f	g.chr14:75416122C>T	ENST00000555567.1	-	3	794	c.253G>A	c.(253-255)Ggc>Agc	p.G85S	PGF_ENST00000238607.6_Missense_Mutation_p.G84S|PGF_ENST00000553716.1_Missense_Mutation_p.G85S|PGF_ENST00000405431.2_Missense_Mutation_p.G85S	NM_002632.5	NP_002623.2	P49763	PLGF_HUMAN	placental growth factor	85					angiogenesis|cell differentiation|cell-cell signaling|positive regulation of cell division|positive regulation of cell proliferation|vascular endothelial growth factor receptor signaling pathway	extracellular region|membrane	growth factor activity|heparin binding			kidney(1)|large_intestine(3)|lung(3)|ovary(1)	8				BRCA - Breast invasive adenocarcinoma(234;0.00668)		CCGCAGCAGCCGGTGCAGCGC	0.652													9	63					0	0	1	0	0	T	75416122	C	T	75416122	3	4	276	1	0	0	0	0	1	0	0	0	11836	652	23	1	279	1	PGF	14	75416122	Missense_Mutation	SNP	C	TCGA-HT-7856-01A-11D-2395-08		75416122	31933418	14	28188											
SIN3A	25942	broad.mit.edu	37	15	75688839	75688839	+	Splice_Site	SNP	T	T	C			TCGA-HT-7856-01A-11D-2395-08	TCGA-HT-7856-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1d5590-b04f-4196-86f0-d3887c399996	36437e51-9b37-4436-919f-9a5e82f7cf8f	g.chr15:75688839T>C	ENST00000394947.3	-	13	2169		c.e13-2		SIN3A_ENST00000360439.4_Splice_Site|SIN3A_ENST00000394949.4_Splice_Site	NM_001145358.1	NP_001138830.1	Q96ST3	SIN3A_HUMAN	SIN3 transcription regulator family member A						blood coagulation|cellular lipid metabolic process|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|Sin3 complex	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	63						TACATCAAGCTGAAGAGGAAG	0.413													5	42					0	0	1	0	0	C	75688839	T	C	75688839	5	2	276	1	0	0	0	0	0	0	1	0	14380	1594	55	3	2004	3	SIN3A	15	75688839	Splice_Site	SNP	T	TCGA-HT-7856-01A-11D-2395-08		75688839	26842553	15	28189											
IDH2	3418	broad.mit.edu	37	15	90631839	90631839	+	Missense_Mutation	SNP	T	T	A			TCGA-HT-7856-01A-11D-2395-08	TCGA-HT-7856-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1d5590-b04f-4196-86f0-d3887c399996	36437e51-9b37-4436-919f-9a5e82f7cf8f	g.chr15:90631839T>A	ENST00000330062.3	-	4	627	c.514A>T	c.(514-516)Agg>Tgg	p.R172W	IDH2_ENST00000539790.1_Missense_Mutation_p.R42W|IDH2_ENST00000559482.1_Intron|IDH2_ENST00000540499.2_Missense_Mutation_p.R120W	NM_002168.2	NP_002159.2	P48735	IDHP_HUMAN	isocitrate dehydrogenase 2 (NADP+), mitochondrial	172					2-oxoglutarate metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding	p.R172W(12)|p.R172G(2)		biliary_tract(11)|bone(19)|central_nervous_system(107)|endometrium(1)|haematopoietic_and_lymphoid_tissue(953)|large_intestine(8)|lung(5)|skin(5)	1109	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.106)			TGGGCGTGCCTGCCAATGGTG	0.627			M		GBM								9	57					0	0	1	0	0	A	90631839	T	A	90631839	3	1	276	1	0	0	0	0	1	0	0	0	7539	1579	55	5	876	5	IDH2	15	90631839	Missense_Mutation	SNP	T	TCGA-HT-7856-01A-11D-2395-08	14943000	90631839	11899553	16	28190											
MAST3	23031	broad.mit.edu	37	19	18248097	18248097	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HT-7856-01A-11D-2395-08	TCGA-HT-7856-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1d5590-b04f-4196-86f0-d3887c399996	36437e51-9b37-4436-919f-9a5e82f7cf8f	g.chr19:18248097G>A	ENST00000262811.6	+	18	1934	c.1934G>A	c.(1933-1935)tGg>tAg	p.W645*		NM_015016.1	NP_055831.1	O60307	MAST3_HUMAN	microtubule associated serine/threonine kinase 3		AGC-kinase C-terminal.						ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1)	31						GCCCTGGACTGGGCAGGGCTT	0.622													6	61					0	0	1	0	0	A	18248097	G	A	18248097	4	1	276	1	0	0	0	0	0	1	0	0	9376	1357	47	2	2004	2	MAST3	19	18248097	Nonsense_Mutation	SNP	G	TCGA-HT-7856-01A-11D-2395-08		18248097	40880886	17	28191											
RYR1	6261	broad.mit.edu	37	19	39026681	39026681	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7856-01A-11D-2395-08	TCGA-HT-7856-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1d5590-b04f-4196-86f0-d3887c399996	36437e51-9b37-4436-919f-9a5e82f7cf8f	g.chr19:39026681G>A	ENST00000355481.4	+	81	11677	c.11546G>A	c.(11545-11547)gGg>gAg	p.G3849E	RYR1_ENST00000359596.3_Missense_Mutation_p.G3854E|RYR1_ENST00000360985.3_Missense_Mutation_p.G3854E|AC067969.2_ENST00000595853.1_RNA	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	3854					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	AAGGCCGAGGGGCTGGGCATG	0.577													4	17					0	0	1	0	0	A	39026681	G	A	39026681	3	1	276	1	0	0	0	0	1	0	0	0	13820	1232	43	2	11887	2	RYR1	19	39026681	Missense_Mutation	SNP	G	TCGA-HT-7856-01A-11D-2395-08	20778584	39026681	20102302	18	28192											
TAB1	10454	broad.mit.edu	37	22	39814843	39814843	+	Silent	SNP	G	G	A	rs143506704	byFrequency	TCGA-HT-7856-01A-11D-2395-08	TCGA-HT-7856-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1d5590-b04f-4196-86f0-d3887c399996	36437e51-9b37-4436-919f-9a5e82f7cf8f	g.chr22:39814843G>A	ENST00000216160.6	+	6	719	c.657G>A	c.(655-657)tcG>tcA	p.S219S	TAB1_ENST00000331454.3_Silent_p.S219S	NM_006116.2	NP_006107.1	Q15750	TAB1_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 1	219	PP2C-like.				activation of MAPK activity|activation of MAPKKK activity|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane	catalytic activity|protein binding			breast(1)|endometrium(2)|large_intestine(2)|lung(8)|urinary_tract(1)	14						TCCGTCTTTCGCAGCTGGGTG	0.587													5	60					0	0	1	0	0	A	39814843	G	A	39814843	2	1	276	1	0	0	0	0	0	0	0	1	15552	1074	38	1		1	TAB1	22	39814843	Silent	SNP	G	TCGA-HT-7856-01A-11D-2395-08		39814843	11489723	19	28193											
FUCA1	2517	broad.mit.edu	37	1	24194728	24194728	+	Missense_Mutation	SNP	G	G	C			TCGA-HT-7857-01A-11D-2395-08	TCGA-HT-7857-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58282498-c68f-4b15-89bb-68f49431393c	370dc8dd-90cf-4a60-be75-ccc17f9310fb	g.chr1:24194728G>C	ENST00000374479.3	-	1	56	c.49C>G	c.(49-51)Ctg>Gtg	p.L17V		NM_000147.4	NP_000138.2	P04066	FUCO_HUMAN	fucosidase, alpha-L- 1, tissue	17					fucose metabolic process|glycosaminoglycan catabolic process	lysosome	alpha-L-fucosidase activity|cation binding			breast(1)|endometrium(1)|large_intestine(3)|lung(3)	8		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.00957)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-24)|Colorectal(126;5.69e-08)|COAD - Colon adenocarcinoma(152;3.15e-06)|GBM - Glioblastoma multiforme(114;9.04e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|KIRC - Kidney renal clear cell carcinoma(1967;0.00342)|STAD - Stomach adenocarcinoma(196;0.0128)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.144)		AGCAGCAGCAGCAACAGCGCG	0.746													2	2					0	0	1	0	0	C	24194728	G	C	24194728	3	2	277	1	0	0	0	0	1	0	0	0	6129	962	34	4	1383	4	FUCA1	1	24194728	Missense_Mutation	SNP	G	TCGA-HT-7857-01A-11D-2395-08		24194728	225055893	1	28194											
ABCA4	24	broad.mit.edu	37	1	94528252	94528252	+	Silent	SNP	G	G	T			TCGA-HT-7857-01A-11D-2395-08	TCGA-HT-7857-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58282498-c68f-4b15-89bb-68f49431393c	370dc8dd-90cf-4a60-be75-ccc17f9310fb	g.chr1:94528252G>T	ENST00000370225.3	-	13	1904	c.1818C>A	c.(1816-1818)ggC>ggA	p.G606G	ABCA4_ENST00000535735.1_Silent_p.G606G	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	606					phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		AGGCAAACCCGCCCCAGATGT	0.562													10	30					0.000442599	0.000442599	1	1	0	T	94528252	G	T	94528252	2	4	277	1	0	0	0	0	0	0	0	1	34	1074	38	5		5	ABCA4	1	94528252	Silent	SNP	G	TCGA-HT-7857-01A-11D-2395-08	70333524	94528252	154722369	2	28195											
PSME4	23198	broad.mit.edu	37	2	54148047	54148049	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-HT-7857-01A-11D-2395-08	TCGA-HT-7857-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58282498-c68f-4b15-89bb-68f49431393c	370dc8dd-90cf-4a60-be75-ccc17f9310fb	g.chr2:54148047_54148049delAGG	ENST00000404125.1	-	18	2294_2296	c.2239_2241delCCT	c.(2239-2241)cctdel	p.P747del	PSME4_ENST00000421748.2_Intron	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4	747					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			AGTATTCAGAAGGAGGCTTGTCA	0.374													22	75	---	---	---	---						-	54148049	AGG	-	54148047	7	5	277	1	0	1	0	1	0	0	0	0	12758	59	3	0	3406	0	PSME4	2	54148047	In_Frame_Del	DEL	AGG	TCGA-HT-7857-01A-11D-2395-08		54148047	189051326	3	28196											
C4orf17	84103	broad.mit.edu	37	4	100443784	100443785	+	Frame_Shift_Ins	INS	-	-	G	rs36110345	byFrequency	TCGA-HT-7857-01A-11D-2395-08	TCGA-HT-7857-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58282498-c68f-4b15-89bb-68f49431393c	370dc8dd-90cf-4a60-be75-ccc17f9310fb	g.chr4:100443784_100443785insG	ENST00000514652.1	+	3	609_610	c.255_256insG	c.(256-258)agcfs	p.S86fs	C4orf17_ENST00000326581.4_Frame_Shift_Ins_p.S86fs|C4orf17_ENST00000503257.1_3'UTR			Q53FE4	CD017_HUMAN	chromosome 4 open reading frame 17	86										central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|urinary_tract(3)	18				OV - Ovarian serous cystadenocarcinoma(123;2.08e-08)		GTTACCCCTCCAGCACTGCAGT	0.5													7	93	---	---	---	---						G	100443785	-	G	100443784	7	5	277	1	0	1	1	0	0	0	0	0	2267	581	21	0	261	0	C4orf17	4	100443784	Frame_Shift_Ins	INS	-	TCGA-HT-7857-01A-11D-2395-08		100443784	90710492	4	28197											
TET2	54790	broad.mit.edu	37	4	106155166	106155166	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7857-01A-11D-2395-08	TCGA-HT-7857-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58282498-c68f-4b15-89bb-68f49431393c	370dc8dd-90cf-4a60-be75-ccc17f9310fb	g.chr4:106155166C>T	ENST00000513237.1	+	3	927	c.130C>T	c.(130-132)Ccc>Tcc	p.P44S	TET2_ENST00000305737.2_Missense_Mutation_p.P23S|TET2_ENST00000394764.1_Missense_Mutation_p.P23S|TET2_ENST00000545826.1_Missense_Mutation_p.P23S|TET2_ENST00000540549.1_Missense_Mutation_p.P23S|TET2_ENST00000380013.4_Missense_Mutation_p.P23S|TET2_ENST00000413648.2_Missense_Mutation_p.P23S			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	23					cell cycle|myeloid cell differentiation		metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		ACCATCACCTCCCATTTGCCA	0.527			"Mis N, F"		MDS								11	43					0	0	1	0	0	T	106155166	C	T	106155166	3	4	277	1	0	0	0	0	1	0	0	0	15829	855	30	2	69	2	TET2	4	106155166	Missense_Mutation	SNP	C	TCGA-HT-7857-01A-11D-2395-08	5711382	106155166	84999110	5	28198											
NAA15	80155	broad.mit.edu	37	4	140262069	140262069	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HT-7857-01A-11D-2395-08	TCGA-HT-7857-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58282498-c68f-4b15-89bb-68f49431393c	370dc8dd-90cf-4a60-be75-ccc17f9310fb	g.chr4:140262069G>A	ENST00000296543.5	+	4	571	c.248G>A	c.(247-249)tGg>tAg	p.W83*	NAA15_ENST00000398947.1_Nonsense_Mutation_p.W83*|NAA15_ENST00000480277.2_3'UTR	NM_057175.3	NP_476516.1	Q9BXJ9	NAA15_HUMAN	N(alpha)-acetyltransferase 15, NatA auxiliary subunit	83					angiogenesis|cell differentiation|N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|transcription factor complex	protein binding			NS(1)|endometrium(3)|large_intestine(7)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						TCTTTAGGTTGGCACGTTTAT	0.363													26	51					0	0	1	0	0	A	140262069	G	A	140262069	4	1	277	1	0	0	0	0	0	1	0	0	10166	1357	47	2	262	2	NAA15	4	140262069	Nonsense_Mutation	SNP	G	TCGA-HT-7857-01A-11D-2395-08	34106903	140262069	50892207	6	28199											
DUSP22	56940	broad.mit.edu	37	6	348272	348272	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HT-7857-01A-11D-2395-08	TCGA-HT-7857-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58282498-c68f-4b15-89bb-68f49431393c	370dc8dd-90cf-4a60-be75-ccc17f9310fb	g.chr6:348272C>T	ENST00000604971.1	+	3	1237	c.124C>T	c.(124-126)Cag>Tag	p.Q42*	DUSP22_ENST00000603453.1_Nonsense_Mutation_p.Q42*|DUSP22_ENST00000605315.1_Nonsense_Mutation_p.Q42*|DUSP22_ENST00000344450.5_Nonsense_Mutation_p.Q145*|DUSP22_ENST00000605035.1_Nonsense_Mutation_p.Q42*|DUSP22_ENST00000605863.1_Nonsense_Mutation_p.Q42*|DUSP22_ENST00000419235.2_Nonsense_Mutation_p.Q145*			Q9NRW4	DUS22_HUMAN	dual specificity phosphatase 22	145					apoptosis|cell proliferation|inactivation of MAPK activity|multicellular organismal development|positive regulation of JNK cascade|regulation of cell proliferation|transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(2)	26	all_hematologic(77;0.228)	Breast(5;0.0249)|all_hematologic(90;0.0489)		OV - Ovarian serous cystadenocarcinoma(45;0.0277)|BRCA - Breast invasive adenocarcinoma(62;0.0669)		TGAGGTCCATCAGGTAAGCAG	0.577													14	132					0	0	1	0	0	T	348272	C	T	348272	4	4	277	1	0	0	0	0	0	1	0	0	4847	827	29	2	455	2	DUSP22	6	348272	Nonsense_Mutation	SNP	C	TCGA-HT-7857-01A-11D-2395-08		348272	170766795	7	28200											
OR10C1	442194	broad.mit.edu	37	6	29407957	29407957	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-7857-01A-11D-2395-08	TCGA-HT-7857-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58282498-c68f-4b15-89bb-68f49431393c	370dc8dd-90cf-4a60-be75-ccc17f9310fb	g.chr6:29407957G>T	ENST00000444197.2	+	1	875	c.165G>T	c.(163-165)caG>caT	p.Q55H	OR11A1_ENST00000377149.1_Intron	NM_013941.3	NP_039229.3	Q96KK4	O10C1_HUMAN	olfactory receptor, family 10, subfamily C, member 1 (gene/pseudogene)	55					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|kidney(1)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						CTGCCCTCCAGTCCCCTATGT	0.567													20	159					5.35267e-07	5.59056e-07	1	1	0	T	29407957	G	T	29407957	3	4	277	1	0	0	0	0	1	0	0	0	10946	1020	36	4	167	4	OR10C1	6	29407957	Missense_Mutation	SNP	G	TCGA-HT-7857-01A-11D-2395-08	29059685	29407957	141707110	8	28201											
DNAH8	1769	broad.mit.edu	37	6	38810444	38810444	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7857-01A-11D-2395-08	TCGA-HT-7857-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58282498-c68f-4b15-89bb-68f49431393c	370dc8dd-90cf-4a60-be75-ccc17f9310fb	g.chr6:38810444G>A	ENST00000359357.3	+	33	4213	c.3959G>A	c.(3958-3960)cGt>cAt	p.R1320H	DNAH8_ENST00000449981.2_Missense_Mutation_p.R1537H|DNAH8_ENST00000441566.1_Missense_Mutation_p.R1320H					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						GAAAGATGTCGTAAACTTCCA	0.323													24	67					0	0	1	0	0	A	38810444	G	A	38810444	3	1	277	1	0	0	0	0	1	0	0	0	4634	1145	40	1	4081	1	DNAH8	6	38810444	Missense_Mutation	SNP	G	TCGA-HT-7857-01A-11D-2395-08	9402487	38810444	132304623	9	28202											
POU6F2	11281	broad.mit.edu	37	7	39500263	39500263	+	Missense_Mutation	SNP	A	A	C			TCGA-HT-7857-01A-11D-2395-08	TCGA-HT-7857-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58282498-c68f-4b15-89bb-68f49431393c	370dc8dd-90cf-4a60-be75-ccc17f9310fb	g.chr7:39500263A>C	ENST00000518318.2	+	9	1562	c.1520A>C	c.(1519-1521)cAg>cCg	p.Q507P	POU6F2_ENST00000559001.1_Missense_Mutation_p.Q452P|POU6F2_ENST00000403058.1_Missense_Mutation_p.Q507P			P78424	PO6F2_HUMAN	POU class 6 homeobox 2	507	POU-specific.				central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.Q507L(1)|p.Q507R(1)		NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						CAGGTGGGACAGGCTCTCAGT	0.602													6	11					0	0	1	0	0	C	39500263	A	C	39500263	3	2	277	1	0	0	0	0	1	0	0	0	12330	188	7	5	1554	5	POU6F2	7	39500263	Missense_Mutation	SNP	A	TCGA-HT-7857-01A-11D-2395-08		39500263	119638400	10	28203											
EXOC4	60412	broad.mit.edu	37	7	133749244	133749244	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7857-01A-11D-2395-08	TCGA-HT-7857-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58282498-c68f-4b15-89bb-68f49431393c	370dc8dd-90cf-4a60-be75-ccc17f9310fb	g.chr7:133749244A>G	ENST00000253861.4	+	18	2917	c.2888A>G	c.(2887-2889)aAg>aGg	p.K963R	EXOC4_ENST00000541309.1_Missense_Mutation_p.K251R|EXOC4_ENST00000545148.1_Missense_Mutation_p.K573R|EXOC4_ENST00000539845.1_Missense_Mutation_p.K862R	NM_021807.3	NP_068579.3	Q96A65	EXOC4_HUMAN	exocyst complex component 4	963					vesicle docking involved in exocytosis	exocyst	protein N-terminus binding			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	50		Esophageal squamous(399;0.129)				GCTGCCATCAAGCAAGCCACC	0.572													21	68					0	0	1	0	0	G	133749244	A	G	133749244	3	3	277	1	0	0	0	0	1	0	0	0	5333	72	3	3	2967	3	EXOC4	7	133749244	Missense_Mutation	SNP	A	TCGA-HT-7857-01A-11D-2395-08	94248981	133749244	25389419	11	28204											
UBR5	51366	broad.mit.edu	37	8	103266680	103266680	+	Silent	SNP	G	G	A			TCGA-HT-7857-01A-11D-2395-08	TCGA-HT-7857-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58282498-c68f-4b15-89bb-68f49431393c	370dc8dd-90cf-4a60-be75-ccc17f9310fb	g.chr8:103266680G>A	ENST00000520539.1	-	59	8856	c.8250C>T	c.(8248-8250)ccC>ccT	p.P2750P	UBR5_ENST00000518205.1_Silent_p.P478P|UBR5_ENST00000521922.1_Silent_p.P2743P|UBR5_ENST00000220959.4_Silent_p.P2749P	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	2750	HECT.|Pro-rich.				cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			TTGTGATTGAGGGCATAGGCT	0.408													10	68					0	0	1	0	0	A	103266680	G	A	103266680	2	1	277	1	0	0	0	0	0	0	0	1	16966	987	35	2		2	UBR5	8	103266680	Silent	SNP	G	TCGA-HT-7857-01A-11D-2395-08		103266680	43097342	12	28205											
ST8SIA6	338596	broad.mit.edu	37	10	17495614	17495614	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HT-7857-01A-11D-2395-08	TCGA-HT-7857-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58282498-c68f-4b15-89bb-68f49431393c	370dc8dd-90cf-4a60-be75-ccc17f9310fb	g.chr10:17495614delG	ENST00000377602.4	-	2	218	c.144delC	c.(142-144)cccfs	p.P48fs		NM_001004470.1	NP_001004470.1	P61647	SIA8F_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6	48					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			endometrium(3)|kidney(3)|large_intestine(4)|liver(1)|lung(24)|ovary(1)|skin(1)	37						TCAGCGCTGCGGGGGTGCCGT	0.697													2	4	---	---	---	---						-	17495614	G	-	17495614	7	5	277	1	0	1	0	1	0	0	0	0	15292	1103	39	0	1080	0	ST8SIA6	10	17495614	Frame_Shift_Del	DEL	G	TCGA-HT-7857-01A-11D-2395-08		17495614	118039133	13	28206											
ANKK1	255239	broad.mit.edu	37	11	113267965	113267965	+	Silent	SNP	C	C	T			TCGA-HT-7857-01A-11D-2395-08	TCGA-HT-7857-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58282498-c68f-4b15-89bb-68f49431393c	370dc8dd-90cf-4a60-be75-ccc17f9310fb	g.chr11:113267965C>T	ENST00000303941.3	+	6	952	c.858C>T	c.(856-858)gaC>gaT	p.D286D		NM_178510.1	NP_848605.1	Q8NFD2	ANKK1_HUMAN	ankyrin repeat and kinase domain containing 1	286	Protein kinase.						ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|stomach(1)	29		all_cancers(61;1.53e-11)|all_epithelial(67;3e-06)|Melanoma(852;4.04e-05)|all_hematologic(158;0.000315)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0461)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Prostate(24;0.194)		BRCA - Breast invasive adenocarcinoma(274;4.82e-06)|Epithelial(105;5.41e-05)|all cancers(92;0.000442)|OV - Ovarian serous cystadenocarcinoma(223;0.238)		TCGAGACAGACATACTGCTGT	0.582													10	37					0	0	1	0	0	T	113267965	C	T	113267965	2	4	277	1	0	0	0	0	0	0	0	1	627	477	17	2		2	ANKK1	11	113267965	Silent	SNP	C	TCGA-HT-7857-01A-11D-2395-08		113267965	21738551	14	28207											
FMNL3	91010	broad.mit.edu	37	12	50043069	50043069	+	Silent	SNP	A	A	G			TCGA-HT-7857-01A-11D-2395-08	TCGA-HT-7857-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58282498-c68f-4b15-89bb-68f49431393c	370dc8dd-90cf-4a60-be75-ccc17f9310fb	g.chr12:50043069A>G	ENST00000335154.5	-	20	2591	c.2358T>C	c.(2356-2358)taT>taC	p.Y786Y	FMNL3_ENST00000352151.5_Silent_p.Y735Y|FMNL3_ENST00000550488.1_Silent_p.Y786Y|FMNL3_ENST00000293590.5_Silent_p.Y786Y	NM_175736.4	NP_783863.4	Q8IVF7	FMNL3_HUMAN	formin-like 3	786	FH2.				actin cytoskeleton organization		actin binding|Rho GTPase binding			breast(4)|endometrium(7)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|stomach(1)	39						GCTTGAAGCCATACACAGCTC	0.572													14	94					0	0	1	0	0	G	50043069	A	G	50043069	2	3	277	1	0	0	0	0	0	0	0	1	5986	224	8	3		3	FMNL3	12	50043069	Silent	SNP	A	TCGA-HT-7857-01A-11D-2395-08		50043069	83808826	15	28208											
PTPN11	5781	broad.mit.edu	37	12	112888197	112888197	+	Missense_Mutation	SNP	T	T	A			TCGA-HT-7857-01A-11D-2395-08	TCGA-HT-7857-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58282498-c68f-4b15-89bb-68f49431393c	370dc8dd-90cf-4a60-be75-ccc17f9310fb	g.chr12:112888197T>A	ENST00000351677.2	+	3	411	c.213T>A	c.(211-213)ttT>ttA	p.F71L	PTPN11_ENST00000392597.1_Missense_Mutation_p.F71L	NM_002834.3	NP_002825.3	Q06124	PTN11_HUMAN	protein tyrosine phosphatase, non-receptor type 11	71	SH2 1.		F -> K (in acute myeloid leukemia; requires 2 nucleotide substitutions).|F -> L (in myelodysplastic syndrome).		axon guidance|cell junction assembly|ephrin receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|platelet activation|regulation of cell adhesion mediated by integrin|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway	cytosol	non-membrane spanning protein tyrosine phosphatase activity|protein binding	p.F71L(5)|p.F71K(1)		NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(406)|kidney(2)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(3)|stomach(3)	451						GGGAGAAATTTGCCACTTTGG	0.418			Mis		"JMML, AML, MDS"		Noonan Syndrome		Noonan syndrome				50	97					0	0	1	0	0	A	112888197	T	A	112888197	3	1	277	1	0	0	0	0	1	0	0	0	12830	1809	63	5	223	5	PTPN11	12	112888197	Missense_Mutation	SNP	T	TCGA-HT-7857-01A-11D-2395-08	62845128	112888197	20963698	16	28209											
KLHL25	64410	broad.mit.edu	37	15	86311637	86311637	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7857-01A-11D-2395-08	TCGA-HT-7857-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58282498-c68f-4b15-89bb-68f49431393c	370dc8dd-90cf-4a60-be75-ccc17f9310fb	g.chr15:86311637C>T	ENST00000337975.5	-	2	1679	c.1405G>A	c.(1405-1407)Gag>Aag	p.E469K	KLHL25_ENST00000536947.1_Missense_Mutation_p.E469K|KLHL25_ENST00000559131.1_Intron	NM_022480.3	NP_071925.2	Q9H0H3	ENC2_HUMAN	kelch-like family member 25	469						cytoplasm				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	25						CACCTGTTCTCCGAGGGGTCA	0.602													18	137					0	0	1	0	0	T	86311637	C	T	86311637	3	4	277	1	0	0	0	0	1	0	0	0	8423	864	30	2	368	2	KLHL25	15	86311637	Missense_Mutation	SNP	C	TCGA-HT-7857-01A-11D-2395-08		86311637	16219755	17	28210											
PLA2G15	23659	broad.mit.edu	37	16	68293167	68293171	+	Frame_Shift_Del	DEL	CGTGC	CGTGC	-	rs142263893		TCGA-HT-7857-01A-11D-2395-08	TCGA-HT-7857-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58282498-c68f-4b15-89bb-68f49431393c	370dc8dd-90cf-4a60-be75-ccc17f9310fb	g.chr16:68293167_68293171delCGTGC	ENST00000219345.5	+	6	929_933	c.846_850delCGTGC	c.(844-852)ttcgtgcagfs	p.FVQ282fs	PLA2G15_ENST00000566188.1_3'UTR|PLA2G15_ENST00000413021.2_Frame_Shift_Del_p.FVQ188fs|PLA2G15_ENST00000444212.2_Frame_Shift_Del_p.FVQ82fs|RP11-96D1.7_ENST00000563175.1_RNA	NM_012320.3	NP_036452.1	Q8NCC3	PAG15_HUMAN	phospholipase A2, group XV	282					fatty acid catabolic process	extracellular region|lysosome	lysophospholipase activity|phosphatidylcholine-sterol O-acyltransferase activity|phospholipid binding			kidney(2)|large_intestine(2)|lung(2)|ovary(2)|prostate(3)|skin(1)	12						AGAAGGTGTTCGTGCAGACACCCAC	0.58													16	67	---	---	---	---						-	68293171	CGTGC	-	68293167	7	5	277	1	0	1	0	1	0	0	0	0	12040	883	31	0	868	0	PLA2G15	16	68293167	Frame_Shift_Del	DEL	CGTGC	TCGA-HT-7857-01A-11D-2395-08		68293167	22061586	18	28211											
NF1	4763	broad.mit.edu	37	17	29576001	29576001	+	Splice_Site	SNP	G	G	A			TCGA-HT-7857-01A-11D-2395-08	TCGA-HT-7857-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58282498-c68f-4b15-89bb-68f49431393c	370dc8dd-90cf-4a60-be75-ccc17f9310fb	g.chr17:29576001G>A	ENST00000358273.4	+	30	4357		c.e30-1		NF1_ENST00000356175.3_Splice_Site	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1						actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TTTTTTTGTAGGTTAGAACCA	0.368			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			48	36					0	0	1	0	0	A	29576001	G	A	29576001	5	1	277	1	0	0	0	0	0	0	1	0	10403	1014	35	2	4153	2	NF1	17	29576001	Splice_Site	SNP	G	TCGA-HT-7857-01A-11D-2395-08		29576001	51619209	19	28212											
RIBC1	158787	broad.mit.edu	37	X	53455598	53455598	+	Silent	SNP	C	C	T			TCGA-HT-7857-01A-11D-2395-08	TCGA-HT-7857-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58282498-c68f-4b15-89bb-68f49431393c	370dc8dd-90cf-4a60-be75-ccc17f9310fb	g.chrX:53455598C>T	ENST00000457095.1	+	5	771	c.567C>T	c.(565-567)gaC>gaT	p.D189D	RIBC1_ENST00000414955.2_Intron|RIBC1_ENST00000375327.3_Intron|RIBC1_ENST00000490702.1_Intron	NM_144968.2	NP_659405.1	Q8N443	RIBC1_HUMAN	RIB43A domain with coiled-coils 1	0										lung(2)	2						GCCCTCCAGACTCAGAGACCT	0.552													5	19					0	0	1	0	0	T	53455598	C	T	53455598	2	4	277	1	0	0	0	0	0	0	0	1	13402	564	20	2		2	RIBC1	23	53455598	Silent	SNP	C	TCGA-HT-7857-01A-11D-2395-08		53455598	101814962	20	28213											
APEX2	27301	broad.mit.edu	37	X	55033116	55033116	+	Missense_Mutation	SNP	C	C	T	rs145122391		TCGA-HT-7857-01A-11D-2395-08	TCGA-HT-7857-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58282498-c68f-4b15-89bb-68f49431393c	370dc8dd-90cf-4a60-be75-ccc17f9310fb	g.chrX:55033116C>T	ENST00000374987.3	+	6	871	c.805C>T	c.(805-807)Cat>Tat	p.H269Y	APEX2_ENST00000471758.1_3'UTR	NM_014481.2	NP_055296.2	Q9UBZ4	APEX2_HUMAN	APEX nuclease (apurinic/apyrimidinic endonuclease) 2	269			H -> Y (identified in a patient with mtDNA maintenance disorders).		cell cycle|DNA recombination|DNA repair	nucleus	DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|endonuclease activity|exonuclease activity|zinc ion binding			breast(1)|endometrium(8)|large_intestine(4)|lung(6)|prostate(1)|urinary_tract(1)	21						TGGCGCCCGCCATCTCAACTA	0.597								Other BER factors					3	22					0	0	1	0	0	T	55033116	C	T	55033116	3	4	277	1	0	0	0	0	1	0	0	0	766	594	21	2	827	2	APEX2	23	55033116	Missense_Mutation	SNP	C	TCGA-HT-7857-01A-11D-2395-08	1577518	55033116	100237444	21	28214											
ATRX	546	broad.mit.edu	37	X	76814303	76814306	+	Frame_Shift_Del	DEL	ATAA	ATAA	-			TCGA-HT-7857-01A-11D-2395-08	TCGA-HT-7857-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58282498-c68f-4b15-89bb-68f49431393c	370dc8dd-90cf-4a60-be75-ccc17f9310fb	g.chrX:76814303_76814306delATAA	ENST00000373344.5	-	29	6552_6555	c.6338_6341delTTAT	c.(6337-6342)tttatcfs	p.FI2113fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.FI2075fs	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	2113	Helicase C-terminal.				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.F2113fs*9(1)|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)	AGTAGAAATGATAAATAATCGTCC	0.289			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						18	68	---	---	---	---						-	76814306	ATAA	-	76814303	7	5	277	1	0	1	0	1	0	0	0	0	1206	333	12	0	1165	0	ATRX	23	76814303	Frame_Shift_Del	DEL	ATAA	TCGA-HT-7857-01A-11D-2395-08	21781187	76814303	78456257	22	28215											
IPO13	9670	broad.mit.edu	37	1	44415398	44415398	+	Missense_Mutation	SNP	C	C	G	rs138977771	byFrequency	TCGA-HT-7858-01A-11D-2395-08	TCGA-HT-7858-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59cdcd9b-04e6-43cb-9f34-562105029994	10322624-d067-43ec-8617-7c45e71c9c3f	g.chr1:44415398C>G	ENST00000372343.3	+	2	1056	c.394C>G	c.(394-396)Ctc>Gtc	p.L132V		NM_014652.3	NP_055467.3	O94829	IPO13_HUMAN	importin 13	132					protein import into nucleus	cytoplasm|nucleus	protein binding|protein transporter activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)				CTCACTGGCTCTCAGCATGAT	0.587													17	31					0	0	1	0	0	G	44415398	C	G	44415398	3	3	278	1	0	0	0	0	1	0	0	0	7838	913	32	4	400	4	IPO13	1	44415398	Missense_Mutation	SNP	C	TCGA-HT-7858-01A-11D-2395-08		44415398	204835223	1	28216											
SRBD1	55133	broad.mit.edu	37	2	45646937	45646937	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7858-01A-11D-2395-08	TCGA-HT-7858-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59cdcd9b-04e6-43cb-9f34-562105029994	10322624-d067-43ec-8617-7c45e71c9c3f	g.chr2:45646937C>T	ENST00000263736.4	-	17	2208	c.2146G>A	c.(2146-2148)Gtt>Att	p.V716I	SRBD1_ENST00000490133.1_5'UTR|SRBD1_ENST00000535761.1_Missense_Mutation_p.V235I	NM_018079.4	NP_060549.4	Q8N5C6	SRBD1_HUMAN	S1 RNA binding domain 1	716					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		hydrolase activity, acting on ester bonds|RNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(13)|large_intestine(8)|lung(15)|skin(2)|stomach(1)|urinary_tract(1)	49		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)			CTTAACAAAACTTCTGAACAG	0.428													24	60					0	0	1	0	0	T	45646937	C	T	45646937	3	4	278	1	0	0	0	0	1	0	0	0	15189	565	20	2	861	2	SRBD1	2	45646937	Missense_Mutation	SNP	C	TCGA-HT-7858-01A-11D-2395-08		45646937	197552436	2	28217											
IDH1	3417	broad.mit.edu	37	2	209113113	209113113	+	Missense_Mutation	SNP	G	G	T	rs121913499		TCGA-HT-7858-01A-11D-2395-08	TCGA-HT-7858-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59cdcd9b-04e6-43cb-9f34-562105029994	10322624-d067-43ec-8617-7c45e71c9c3f	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	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		TAAGCATGACGACCTATGATG	0.398			Mis		gliobastoma								18	64					0.000566183	0.000616141	1	1	0	T	209113113	G	T	209113113	3	4	278	1	0	0	0	0	1	0	0	0	7538	1058	37	5	878	5	IDH1	2	209113113	Missense_Mutation	SNP	G	TCGA-HT-7858-01A-11D-2395-08	163466176	209113113	34086260	3	28218											
UGT2B28	54490	broad.mit.edu	37	4	70152589	70152589	+	Missense_Mutation	SNP	G	G	C			TCGA-HT-7858-01A-11D-2395-08	TCGA-HT-7858-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59cdcd9b-04e6-43cb-9f34-562105029994	10322624-d067-43ec-8617-7c45e71c9c3f	g.chr4:70152589G>C	ENST00000335568.5	+	3	992	c.990G>C	c.(988-990)aaG>aaC	p.K330N	UGT2B28_ENST00000511240.1_Missense_Mutation_p.K330N	NM_053039.1	NP_444267.1	Q9BY64	UDB28_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B28	330					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31					Flunitrazepam(DB01544)	CCCTTGCCAAGATCCCACAAA	0.423													11	124					0	0	1	0	0	C	70152589	G	C	70152589	3	2	278	1	0	0	0	0	1	0	0	0	17020	933	33	4	1000	4	UGT2B28	4	70152589	Missense_Mutation	SNP	G	TCGA-HT-7858-01A-11D-2395-08		70152589	121001687	4	28219											
FYB	2533	broad.mit.edu	37	5	39203057	39203057	+	Silent	SNP	C	C	T			TCGA-HT-7858-01A-11D-2395-08	TCGA-HT-7858-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59cdcd9b-04e6-43cb-9f34-562105029994	10322624-d067-43ec-8617-7c45e71c9c3f	g.chr5:39203057C>T	ENST00000351578.6	-	2	196	c.6G>A	c.(4-6)gcG>gcA	p.A2A	FYB_ENST00000540520.1_Silent_p.A12A|FYB_ENST00000505428.1_Silent_p.A2A|FYB_ENST00000515010.1_Silent_p.A2A|FYB_ENST00000512982.1_Silent_p.A2A	NM_199335.3	NP_955367.1	O15117	FYB_HUMAN	FYN binding protein	2					cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway	cytosol|nucleus	protein binding			endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45	all_lung(31;0.000343)		Epithelial(62;0.235)			TGTTATATTTCGCCATGAGGG	0.433													30	55					0	0	1	0	0	T	39203057	C	T	39203057	2	4	278	1	0	0	0	0	0	0	0	1	6159	871	31	1		1	FYB	5	39203057	Silent	SNP	C	TCGA-HT-7858-01A-11D-2395-08		39203057	141712203	5	28220											
HOXA1	3198	broad.mit.edu	37	7	27134952	27134952	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7858-01A-11D-2395-08	TCGA-HT-7858-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59cdcd9b-04e6-43cb-9f34-562105029994	10322624-d067-43ec-8617-7c45e71c9c3f	g.chr7:27134952G>A	ENST00000343060.4	-	1	641	c.580C>T	c.(580-582)Ccc>Tcc	p.P194S	HOXA1_ENST00000355633.5_Missense_Mutation_p.P126L	NM_005522.4	NP_005513	P49639	HXA1_HUMAN	homeobox A1	194						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						TCCGATGCGGGGGAGCGACAG	0.552													36	89					0	0	1	0	0	A	27134952	G	A	27134952	3	1	278	1	0	0	0	0	1	0	0	0	7329	1232	43	2	435	2	HOXA1	7	27134952	Missense_Mutation	SNP	G	TCGA-HT-7858-01A-11D-2395-08		27134952	132003711	6	28221											
SSPO	23145	broad.mit.edu	37	7	149481078	149481078	+	RNA	SNP	G	G	A			TCGA-HT-7858-01A-11D-2395-08	TCGA-HT-7858-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59cdcd9b-04e6-43cb-9f34-562105029994	10322624-d067-43ec-8617-7c45e71c9c3f	g.chr7:149481078G>A	ENST00000378016.2	+	0	2560							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			TGGAGAGCTGGGCAGCTGTGT	0.647													6	13					0	0	1	0	0	A	149481078	G	A	149481078	1	1	278	0	1	0	0	0	0	0	0	0	15245	1232	43	2		2	SSPO	7	149481078	RNA	SNP	G	TCGA-HT-7858-01A-11D-2395-08	122346126	149481078	9657585	7	28222											
PLA2G12B	84647	broad.mit.edu	37	10	74700992	74700992	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7858-01A-11D-2395-08	TCGA-HT-7858-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59cdcd9b-04e6-43cb-9f34-562105029994	10322624-d067-43ec-8617-7c45e71c9c3f	g.chr10:74700992C>T	ENST00000373032.3	-	3	493	c.401G>A	c.(400-402)cGa>cAa	p.R134Q		NM_032562.2	NP_115951.2	Q9BX93	PG12B_HUMAN	phospholipase A2, group XIIB	134					lipid catabolic process	extracellular region	calcium ion binding|phospholipase A2 activity			breast(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(2)|skin(2)	9	Prostate(51;0.0198)					GAGACACCATCGGAATTTTGC	0.502													10	168					0	0	1	0	0	T	74700992	C	T	74700992	3	4	278	1	0	0	0	0	1	0	0	0	12039	884	31	1	194	1	PLA2G12B	10	74700992	Missense_Mutation	SNP	C	TCGA-HT-7858-01A-11D-2395-08		74700992	60833755	8	28223											
OR6C2	341416	broad.mit.edu	37	12	55846753	55846753	+	Silent	SNP	C	C	T			TCGA-HT-7858-01A-11D-2395-08	TCGA-HT-7858-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59cdcd9b-04e6-43cb-9f34-562105029994	10322624-d067-43ec-8617-7c45e71c9c3f	g.chr12:55846753C>T	ENST00000322678.1	+	1	756	c.756C>T	c.(754-756)agC>agT	p.S252S	RP11-110A12.2_ENST00000556750.1_RNA|RP11-110A12.2_ENST00000555146.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000554049.1_RNA	NM_054105.1	NP_473446.1	Q9NZP2	OR6C2_HUMAN	olfactory receptor, family 6, subfamily C, member 2	252					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(2)|large_intestine(5)|lung(8)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	23						CCTATGGAAGCTGCATCTTCA	0.428													5	110					0	0	1	0	0	T	55846753	C	T	55846753	2	4	278	1	0	0	0	0	0	0	0	1	11238	796	28	2		2	OR6C2	12	55846753	Silent	SNP	C	TCGA-HT-7858-01A-11D-2395-08		55846753	78005142	9	28224											
CNOT1	23019	broad.mit.edu	37	16	58564252	58564252	+	Splice_Site	SNP	C	C	A			TCGA-HT-7858-01A-11D-2395-08	TCGA-HT-7858-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59cdcd9b-04e6-43cb-9f34-562105029994	10322624-d067-43ec-8617-7c45e71c9c3f	g.chr16:58564252C>A	ENST00000317147.5	-	43	6510		c.e43-1		CNOT1_ENST00000569240.1_Splice_Site|CNOT1_ENST00000245138.4_Splice_Site	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1						nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		TAGGCCACCCCTGAAAGAAAG	0.393													6	55					0.00198382	0.00209718	1	1	0	A	58564252	C	A	58564252	5	1	278	1	0	0	0	0	0	0	1	0	3640	695	24	4	981	4	CNOT1	16	58564252	Splice_Site	SNP	C	TCGA-HT-7858-01A-11D-2395-08		58564252	31790501	10	28225											
PITPNM3	83394	broad.mit.edu	37	17	6358837	6358837	+	Missense_Mutation	SNP	A	A	C			TCGA-HT-7858-01A-11D-2395-08	TCGA-HT-7858-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59cdcd9b-04e6-43cb-9f34-562105029994	10322624-d067-43ec-8617-7c45e71c9c3f	g.chr17:6358837A>C	ENST00000262483.8	-	20	2833	c.2746T>G	c.(2746-2748)Ttc>Gtc	p.F916V	PITPNM3_ENST00000421306.3_Missense_Mutation_p.F880V|PITPNM3_ENST00000576664.1_5'UTR	NM_031220.3	NP_112497.2	Q9BZ71	PITM3_HUMAN	PITPNM family member 3						phosphatidylinositol metabolic process	endomembrane system|integral to membrane	calcium ion binding|lipid binding|phosphatidylinositol transporter activity|receptor tyrosine kinase binding			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(3)|skin(2)	36				Colorectal(2;0.000372)|READ - Rectum adenocarcinoma(2;0.0276)|LUAD - Lung adenocarcinoma(2;0.0836)|COAD - Colon adenocarcinoma(228;0.185)		TTCCGCAGGAACTCTGGCTGC	0.697													3	37					0	0	1	0	0	C	6358837	A	C	6358837	3	2	278	1	0	0	0	0	1	0	0	0	12000	43	2	5	182	5	PITPNM3	17	6358837	Missense_Mutation	SNP	A	TCGA-HT-7858-01A-11D-2395-08		6358837	74836373	11	28226											
TP53	7157	broad.mit.edu	37	17	7578406	7578406	+	Missense_Mutation	SNP	C	C	T	rs28934578		TCGA-HT-7858-01A-11D-2395-08	TCGA-HT-7858-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59cdcd9b-04e6-43cb-9f34-562105029994	10322624-d067-43ec-8617-7c45e71c9c3f	g.chr17:7578406C>T	ENST00000420246.2	-	5	656	c.524G>A	c.(523-525)cGc>cAc	p.R175H	TP53_ENST00000455263.2_Missense_Mutation_p.R175H|TP53_ENST00000413465.2_Missense_Mutation_p.R175H|TP53_ENST00000269305.4_Missense_Mutation_p.R175H|TP53_ENST00000359597.4_Missense_Mutation_p.R175H|TP53_ENST00000445888.2_Missense_Mutation_p.R175H|TP53_ENST00000574684.1_5'UTR	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	175	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> C (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; dbSNP:rs28934578).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> 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.R175H(847)|p.R43H(36)|p.R82H(36)|p.R175L(19)|p.0?(8)|p.R175P(6)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*5(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(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)		GTGGGGGCAGCGCCTCACAAC	0.652	R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY)	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)			31	16					0	0	1	0	0	T	7578406	C	T	7578406	3	4	278	1	0	0	0	0	1	0	0	0	16442	768	27	1	774	1	TP53	17	7578406	Missense_Mutation	SNP	C	TCGA-HT-7858-01A-11D-2395-08	1219569	7578406	73616804	12	28227											
CD300LB	124599	broad.mit.edu	37	17	72521999	72521999	+	Silent	SNP	C	C	T			TCGA-HT-7858-01A-11D-2395-08	TCGA-HT-7858-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59cdcd9b-04e6-43cb-9f34-562105029994	10322624-d067-43ec-8617-7c45e71c9c3f	g.chr17:72521999C>T	ENST00000392621.1	-	2	373	c.369G>A	c.(367-369)acG>acA	p.T123T	CD300LB_ENST00000314401.3_Silent_p.T123T	NM_174892.2	NP_777552	A8K4G0	CLM7_HUMAN	CD300 molecule-like family member b	86						integral to membrane|plasma membrane	receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(1)	21						TCACAGTGAACGTGCGGTCTT	0.517													69	156					0	0	1	0	0	T	72521999	C	T	72521999	2	4	278	1	0	0	0	0	0	0	0	1	3021	523	19	1		1	CD300LB	17	72521999	Silent	SNP	C	TCGA-HT-7858-01A-11D-2395-08	64943593	72521999	8673211	13	28228											
CYTH1	9267	broad.mit.edu	37	17	76694917	76694917	+	Silent	SNP	C	C	T			TCGA-HT-7858-01A-11D-2395-08	TCGA-HT-7858-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59cdcd9b-04e6-43cb-9f34-562105029994	10322624-d067-43ec-8617-7c45e71c9c3f	g.chr17:76694917C>T	ENST00000589297.1	-	8	1199	c.507G>A	c.(505-507)ccG>ccA	p.P169P	CYTH1_ENST00000585509.1_Silent_p.P169P|CYTH1_ENST00000591455.1_Silent_p.P228P|CYTH1_ENST00000361101.4_Silent_p.P228P|CYTH1_ENST00000589296.1_Intron|CYTH1_ENST00000446868.3_Silent_p.P228P			Q15438	CYH1_HUMAN	cytohesin 1	228	SEC7.				regulation of ARF protein signal transduction|regulation of cell adhesion|vesicle-mediated transport	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	19						GGAGCTCCTCCGGCAGGTCTC	0.488													41	196					0	0	1	0	0	T	76694917	C	T	76694917	2	4	278	1	0	0	0	0	0	0	0	1	4226	639	23	1		1	CYTH1	17	76694917	Silent	SNP	C	TCGA-HT-7858-01A-11D-2395-08	4172918	76694917	4500293	14	28229											
DSC3	1825	broad.mit.edu	37	18	28574169	28574169	+	Missense_Mutation	SNP	G	G	C			TCGA-HT-7858-01A-11D-2395-08	TCGA-HT-7858-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59cdcd9b-04e6-43cb-9f34-562105029994	10322624-d067-43ec-8617-7c45e71c9c3f	g.chr18:28574169G>C	ENST00000360428.4	-	16	2743	c.2663C>G	c.(2662-2664)aCa>aGa	p.T888R	DSC3_ENST00000434452.1_3'UTR	NM_001941.3	NP_001932.2	Q14574	DSC3_HUMAN	desmocollin 3	888					homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			TTCTGCTAATGTAATAAATTT	0.388													13	48					0	0	1	0	0	C	28574169	G	C	28574169	3	2	278	1	0	0	0	0	1	0	0	0	4793	1377	48	5	31	5	DSC3	18	28574169	Missense_Mutation	SNP	G	TCGA-HT-7858-01A-11D-2395-08		28574169	49503079	15	28230											
CACNG8	59283	broad.mit.edu	37	19	54466583	54466583	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7858-01A-11D-2395-08	TCGA-HT-7858-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59cdcd9b-04e6-43cb-9f34-562105029994	10322624-d067-43ec-8617-7c45e71c9c3f	g.chr19:54466583G>A	ENST00000270458.2	+	1	290	c.187G>A	c.(187-189)Gac>Aac	p.D63N		NM_031895.5	NP_114101	Q8WXS5	CCG8_HUMAN	calcium channel, voltage-dependent, gamma subunit 8	63					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic density|postsynaptic membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity			kidney(1)|large_intestine(3)|lung(8)|urinary_tract(1)	13	all_cancers(19;0.0385)|all_epithelial(19;0.0207)|all_lung(19;0.145)|Lung NSC(19;0.168)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.162)		CGGCGGCGACGACGGGACCCC	0.701													4	27					0	0	1	0	0	A	54466583	G	A	54466583	3	1	278	1	0	0	0	0	1	0	0	0	2581	1058	37	1	189	1	CACNG8	19	54466583	Missense_Mutation	SNP	G	TCGA-HT-7858-01A-11D-2395-08		54466583	4662400	16	28231											
GZF1	64412	broad.mit.edu	37	20	23345745	23345745	+	Missense_Mutation	SNP	G	G	C			TCGA-HT-7858-01A-11D-2395-08	TCGA-HT-7858-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59cdcd9b-04e6-43cb-9f34-562105029994	10322624-d067-43ec-8617-7c45e71c9c3f	g.chr20:23345745G>C	ENST00000338121.5	+	2	802	c.725G>C	c.(724-726)aGa>aCa	p.R242T	GZF1_ENST00000544236.1_Intron|GZF1_ENST00000377051.2_Missense_Mutation_p.R242T|GZF1_ENST00000542987.1_Intron			Q9H116	GZF1_HUMAN	GDNF-inducible zinc finger protein 1	242					transcription, DNA-dependent	nucleolus|nucleoplasm	sequence-specific DNA binding|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|urinary_tract(2)	24	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)					AAATATACGAGAAGACTCCGA	0.532													25	50					0	0	1	0	0	C	23345745	G	C	23345745	3	2	278	1	0	0	0	0	1	0	0	0	6955	942	33	4	727	4	GZF1	20	23345745	Missense_Mutation	SNP	G	TCGA-HT-7858-01A-11D-2395-08		23345745	39679775	17	28232											
DSCAM	1826	broad.mit.edu	37	21	41710291	41710291	+	Missense_Mutation	SNP	A	A	C			TCGA-HT-7858-01A-11D-2395-08	TCGA-HT-7858-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59cdcd9b-04e6-43cb-9f34-562105029994	10322624-d067-43ec-8617-7c45e71c9c3f	g.chr21:41710291A>C	ENST00000400454.1	-	8	1997	c.1520T>G	c.(1519-1521)aTt>aGt	p.I507S		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	507	Ig-like C2-type 6.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CATTGGTCGAATGCTTGCAGG	0.403													11	21					0	0	1	0	0	C	41710291	A	C	41710291	3	2	278	1	0	0	0	0	1	0	0	0	4794	101	4	4	4622	4	DSCAM	21	41710291	Missense_Mutation	SNP	A	TCGA-HT-7858-01A-11D-2395-08		41710291	6419604	18	28233											
MTMR3	8897	broad.mit.edu	37	22	30416522	30416522	+	Silent	SNP	C	C	T	rs147400483	byFrequency	TCGA-HT-7858-01A-11D-2395-08	TCGA-HT-7858-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59cdcd9b-04e6-43cb-9f34-562105029994	10322624-d067-43ec-8617-7c45e71c9c3f	g.chr22:30416522C>T	ENST00000333027.3	+	17	3202	c.2874C>T	c.(2872-2874)tgC>tgT	p.C958C	MTMR3_ENST00000406629.1_Silent_p.C958C|MTMR3_ENST00000351488.3_Silent_p.C958C|MTMR3_ENST00000323630.5_Silent_p.C822C|CTA-85E5.10_ENST00000453743.2_RNA|CTA-85E5.10_ENST00000429350.1_RNA|MTMR3_ENST00000401950.2_Silent_p.C958C	NM_153050.2|NM_153051.2	NP_694690.1|NP_694691.1	Q13615	MTMR3_HUMAN	myotubularin related protein 3	958					phosphatidylinositol dephosphorylation	cytoplasm|membrane|membrane fraction|nucleus	metal ion binding|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity	p.C958C(2)		breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)			ATGGGCATTGCGCCAATGGGG	0.582													22	56					0	0	1	0	0	T	30416522	C	T	30416522	2	4	278	1	0	0	0	0	0	0	0	1	9993	776	27	1		1	MTMR3	22	30416522	Silent	SNP	C	TCGA-HT-7858-01A-11D-2395-08		30416522	20888044	19	28234											
SEC14L4	284904	broad.mit.edu	37	22	30886219	30886219	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7858-01A-11D-2395-08	TCGA-HT-7858-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59cdcd9b-04e6-43cb-9f34-562105029994	10322624-d067-43ec-8617-7c45e71c9c3f	g.chr22:30886219C>T	ENST00000540456.1	-	13	1244	c.1051G>A	c.(1051-1053)Gac>Aac	p.D351N	SEC14L4_ENST00000255858.7_Missense_Mutation_p.D366N|SEC14L4_ENST00000381982.3_Intron|SEC14L4_ENST00000392772.2_Silent_p.S326S|RP4-539M6.14_ENST00000610156.1_RNA			Q9UDX3	S14L4_HUMAN	SEC14-like 4 (S. cerevisiae)	366	GOLD.					integral to membrane|intracellular	lipid binding|transporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|pancreas(1)|skin(1)	21					Vitamin E(DB00163)	TAGGTGTTGTCGAAGCGCAGG	0.592													6	68					0	0	1	0	0	T	30886219	C	T	30886219	3	4	278	1	0	0	0	0	1	0	0	0	14038	884	31	1	134	1	SEC14L4	22	30886219	Missense_Mutation	SNP	C	TCGA-HT-7858-01A-11D-2395-08	469697	30886219	20418347	20	28235											
ATRX	546	broad.mit.edu	37	X	76939540	76939540	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HT-7858-01A-11D-2395-08	TCGA-HT-7858-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59cdcd9b-04e6-43cb-9f34-562105029994	10322624-d067-43ec-8617-7c45e71c9c3f	g.chrX:76939540delT	ENST00000373344.5	-	9	1422	c.1208delA	c.(1207-1209)aagfs	p.K404fs	ATRX_ENST00000395603.3_Frame_Shift_Del_p.K366fs|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	404					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)	ATGAGCCTTCTTAATATCAGC	0.348			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						176	103	---	---	---	---						-	76939540	T	-	76939540	7	5	278	1	0	1	0	1	0	0	0	0	1206	1609	56	0	6378	0	ATRX	23	76939540	Frame_Shift_Del	DEL	T	TCGA-HT-7858-01A-11D-2395-08		76939540	78331020	21	28236											
GRHL3	57822	broad.mit.edu	37	1	24671385	24671385	+	Splice_Site	SNP	A	A	C			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr1:24671385A>C	ENST00000361548.4	+	12	1649		c.e12-1		GRHL3_ENST00000350501.5_Splice_Site|GRHL3_ENST00000342072.4_Splice_Site|GRHL3_ENST00000356046.2_Splice_Site|GRHL3_ENST00000236255.4_Splice_Site	NM_198173.2	NP_937816.1	Q8TE85	GRHL3_HUMAN	grainyhead-like 3 (Drosophila)						regulation of actin cytoskeleton organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143)		ACTTCATTGCAGGCAGCCCCC	0.572													24	45					0	0	1	0	0	C	24671385	A	C	24671385	5	2	279	1	0	0	0	0	0	0	1	0	6806	202	7	5	1500	5	GRHL3	1	24671385	Splice_Site	SNP	A	TCGA-HT-7860-01A-11D-2395-08		24671385	224579236	1	28237											
WDR65	149465	broad.mit.edu	37	1	43675514	43675514	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr1:43675514G>A	ENST00000372492.4	+	11	2180	c.1856G>A	c.(1855-1857)cGt>cAt	p.R619H	WDR65_ENST00000528956.1_Missense_Mutation_p.R619H	NM_001195831.2	NP_001182760.2	Q96MR6	WDR65_HUMAN	WD repeat domain 65	619										NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GGAACCATTCGTGCCATGAAG	0.552													38	61					0	0	1	0	0	A	43675514	G	A	43675514	3	1	279	1	0	0	0	0	1	0	0	0	17376	1145	40	1	1894	1	WDR65	1	43675514	Missense_Mutation	SNP	G	TCGA-HT-7860-01A-11D-2395-08	19004129	43675514	205575107	2	28238											
TTC4	7268	broad.mit.edu	37	1	55181589	55181589	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr1:55181589A>G	ENST00000371281.3	+	1	95	c.8A>G	c.(7-9)cAa>cGa	p.Q3R	TTC4_ENST00000371284.5_3'UTR|MROH7-TTC4_ENST00000414150.2_Intron	NM_004623.4	NP_004614.3	O95801	TTC4_HUMAN	tetratricopeptide repeat domain 4	3							binding			breast(2)|endometrium(3)|kidney(1)|lung(2)|stomach(1)	9						GCTATGGAACAACCTGGGCAG	0.642													8	15					0	0	1	0	0	G	55181589	A	G	55181589	3	3	279	1	0	0	0	0	1	0	0	0	16772	130	5	3	10	3	TTC4	1	55181589	Missense_Mutation	SNP	A	TCGA-HT-7860-01A-11D-2395-08	11506075	55181589	194069032	3	28239											
LCE2A	353139	broad.mit.edu	37	1	152671462	152671462	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr1:152671462C>T	ENST00000368779.1	+	2	136	c.85C>T	c.(85-87)Cga>Tga	p.R29*		NM_178428.3	NP_848515.1	Q5TA79	LCE2A_HUMAN	late cornified envelope 2A	29	Cys-rich.				keratinization					breast(1)|large_intestine(1)|liver(2)|lung(4)	8	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCCAAAGTGCCGACCTCAGTG	0.637													71	123					0	0	1	0	0	T	152671462	C	T	152671462	4	4	279	1	0	0	0	0	0	1	0	0	8704	644	23	1	87	1	LCE2A	1	152671462	Nonsense_Mutation	SNP	C	TCGA-HT-7860-01A-11D-2395-08	97489873	152671462	96579159	4	28240											
DDR2	4921	broad.mit.edu	37	1	162746049	162746049	+	Silent	SNP	C	C	A			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr1:162746049C>A	ENST00000367922.3	+	17	2610	c.2172C>A	c.(2170-2172)atC>atA	p.I724I	DDR2_ENST00000367921.3_Silent_p.I724I	NM_001014796.1	NP_001014796.1	Q16832	DDR2_HUMAN	discoidin domain receptor tyrosine kinase 2		Protein kinase.				cell adhesion	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(2)|kidney(1)|lung(2)|ovary(1)|skin(1)	7	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.113)			ACTACACAATCAAGATAGCTG	0.488													72	162					5.97199e-22	6.32329e-22	1	1	0	A	162746049	C	A	162746049	2	1	279	1	0	0	0	0	0	0	0	1	4360	816	29	5		5	DDR2	1	162746049	Silent	SNP	C	TCGA-HT-7860-01A-11D-2395-08	10074587	162746049	86504572	5	28241											
PTPRC	5788	broad.mit.edu	37	1	198687263	198687263	+	Silent	SNP	A	A	T			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr1:198687263A>T	ENST00000367376.2	+	14	1656	c.1485A>T	c.(1483-1485)tcA>tcT	p.S495S	PTPRC_ENST00000594404.1_Silent_p.S334S|PTPRC_ENST00000348564.6_Silent_p.S336S|PTPRC_ENST00000352140.3_Silent_p.S447S|PTPRC_ENST00000442510.2_Silent_p.S497S	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	495	Fibronectin type-III 2.				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						CCATGACATCAGATAATAGTA	0.388													23	35					0	0	1	0	0	T	198687263	A	T	198687263	2	4	279	1	0	0	0	0	0	0	0	1	12849	175	7	5		5	PTPRC	1	198687263	Silent	SNP	A	TCGA-HT-7860-01A-11D-2395-08	35941214	198687263	50563358	6	28242											
PLXNA2	5362	broad.mit.edu	37	1	208272302	208272302	+	Missense_Mutation	SNP	C	C	A			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr1:208272302C>A	ENST00000367033.3	-	6	2377	c.1620G>T	c.(1618-1620)agG>agT	p.R540S		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	540					axon guidance	integral to membrane|intracellular|plasma membrane				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		GGCATTTGTCCCTGCGGGAGC	0.557													13	17					5.50884e-06	5.6432e-06	1	1	0	A	208272302	C	A	208272302	3	1	279	1	0	0	0	0	1	0	0	0	12168	622	22	5	4172	5	PLXNA2	1	208272302	Missense_Mutation	SNP	C	TCGA-HT-7860-01A-11D-2395-08	9585039	208272302	40978319	7	28243											
C2orf71	388939	broad.mit.edu	37	2	29295046	29295046	+	Silent	SNP	G	G	A			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr2:29295046G>A	ENST00000331664.5	-	1	2081	c.2082C>T	c.(2080-2082)gaC>gaT	p.D694D		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	694					response to stimulus|visual perception	photoreceptor outer segment				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						TGCCTTGTTCGTCCTCAGGAT	0.532													42	93					0	0	1	0	0	A	29295046	G	A	29295046	2	1	279	1	0	0	0	0	0	0	0	1	2205	1136	40	1		1	C2orf71	2	29295046	Silent	SNP	G	TCGA-HT-7860-01A-11D-2395-08		29295046	213904327	8	28244											
EHBP1	23301	broad.mit.edu	37	2	63182658	63182658	+	Silent	SNP	T	T	C			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr2:63182658T>C	ENST00000263991.5	+	15	2910	c.2428T>C	c.(2428-2430)Ttg>Ctg	p.L810L	EHBP1_ENST00000405289.1_Silent_p.L775L|EHBP1_ENST00000431489.1_Silent_p.L775L|EHBP1_ENST00000405015.3_Silent_p.L775L|EHBP1_ENST00000354487.3_Silent_p.L775L	NM_015252.3	NP_056067.2	Q8NDI1	EHBP1_HUMAN	EH domain binding protein 1	810						cytoplasm|membrane				biliary_tract(1)|breast(3)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(22)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	47	Lung NSC(7;0.0951)|all_lung(7;0.169)		LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189)			TAAGCATCGATTGTTATCTAG	0.358													7	17					0	0	1	0	0	C	63182658	T	C	63182658	2	2	279	1	0	0	0	0	0	0	0	1	5001	1490	52	3		3	EHBP1	2	63182658	Silent	SNP	T	TCGA-HT-7860-01A-11D-2395-08	33887612	63182658	180016715	9	28245											
ZNF638	27332	broad.mit.edu	37	2	71576931	71576931	+	Missense_Mutation	SNP	T	T	A			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr2:71576931T>A	ENST00000409544.1	+	2	1477	c.847T>A	c.(847-849)Tcc>Acc	p.S283T	ZNF638_ENST00000377802.2_Missense_Mutation_p.S283T|ZNF638_ENST00000355812.3_Missense_Mutation_p.S283T|ZNF638_ENST00000410075.1_3'UTR|ZNF638_ENST00000264447.4_Missense_Mutation_p.S283T	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638	283					RNA splicing	cytoplasm|nuclear speck	double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						CAATAATCGGTCCTTTTTCTC	0.428													58	115					0	0	1	0	0	A	71576931	T	A	71576931	3	1	279	1	0	0	0	0	1	0	0	0	18112	1667	58	5	849	5	ZNF638	2	71576931	Missense_Mutation	SNP	T	TCGA-HT-7860-01A-11D-2395-08	8394273	71576931	171622442	10	28246											
SNRNP200	23020	broad.mit.edu	37	2	96962796	96962796	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr2:96962796C>T	ENST00000323853.5	-	12	1467	c.1390G>A	c.(1390-1392)Gtg>Atg	p.V464M	SNRNP200_ENST00000349783.5_Missense_Mutation_p.V464M	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	464						catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						AGCTTTTCCACTGGAAGCAGT	0.483													28	42					0	0	1	0	0	T	96962796	C	T	96962796	3	4	279	1	0	0	0	0	1	0	0	0	14906	565	20	2	5156	2	SNRNP200	2	96962796	Missense_Mutation	SNP	C	TCGA-HT-7860-01A-11D-2395-08	25385865	96962796	146236577	11	28247											
CNGA3	1261	broad.mit.edu	37	2	98999852	98999852	+	Splice_Site	SNP	G	G	A			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr2:98999852G>A	ENST00000393504.1	+	5	814	c.397G>A	c.(397-399)Gcc>Acc	p.A133T	CNGA3_ENST00000436404.2_Intron|CNGA3_ENST00000272602.2_Splice_Site_p.A133T|CNGA3_ENST00000409937.1_Splice_Site_p.A137T	NM_001298.2	NP_001289.1	Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3	133					signal transduction|visual perception	integral to membrane	cGMP binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						TTCCCGCAGCGCCTGGCCCCT	0.587													20	54					0	0	1	0	0	A	98999852	G	A	98999852	5	1	279	1	0	0	0	0	0	0	1	0	3621	1101	38	1	411	1	CNGA3	2	98999852	Splice_Site	SNP	G	TCGA-HT-7860-01A-11D-2395-08	2037056	98999852	144199521	12	28248											
TTN	7273	broad.mit.edu	37	2	179577501	179577501	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr2:179577501G>T	ENST00000589042.1	-	94	27475	c.27251C>A	c.(27250-27252)tCa>tAa	p.S9084*	TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Nonsense_Mutation_p.S7840*|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Nonsense_Mutation_p.S8767*|TTN-AS1_ENST00000592630.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	8767	Ig-like 74.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCCACTTTGTGATGTATCTAC	0.423													13	38					2.68362e-12	2.77161e-12	1	1	0	T	179577501	G	T	179577501	4	4	279	1	0	0	0	0	0	1	0	0	16797	1294	45	5	77354	5	TTN	2	179577501	Nonsense_Mutation	SNP	G	TCGA-HT-7860-01A-11D-2395-08	80577649	179577501	63621872	13	28249											
ZSWIM2	151112	broad.mit.edu	37	2	187693519	187693519	+	Splice_Site	SNP	T	T	A			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr2:187693519T>A	ENST00000295131.2	-	9	1135		c.e9-2			NM_182521.2	NP_872327.2	Q8NEG5	ZSWM2_HUMAN	zinc finger, SWIM-type containing 2						apoptosis		zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			CCTGTGAAACTTTAAAAAAAA	0.279													5	10					0	0	1	0	0	A	187693519	T	A	187693519	5	1	279	1	0	0	0	0	0	0	1	0	18281	1623	56	5	811	5	ZSWIM2	2	187693519	Splice_Site	SNP	T	TCGA-HT-7860-01A-11D-2395-08	8116018	187693519	55505854	14	28250											
SPEG	10290	broad.mit.edu	37	2	220299748	220299748	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr2:220299748delC	ENST00000312358.7	+	1	181	c.49delC	c.(49-51)cccfs	p.P18fs		NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	18					muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		CACGAGGGCACCCCCCAGCCC	0.766													2	4	---	---	---	---						-	220299748	C	-	220299748	7	5	279	1	0	1	0	1	0	0	0	0	15092	507	18	0	51	0	SPEG	2	220299748	Frame_Shift_Del	DEL	C	TCGA-HT-7860-01A-11D-2395-08	32606229	220299748	22899625	15	28251											
UGT1A4	54657	broad.mit.edu	37	2	234627498	234627498	+	Missense_Mutation	SNP	G	G	A	rs149314940		TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr2:234627498G>A	ENST00000373409.3	+	1	75	c.32G>A	c.(31-33)cGg>cAg	p.R11Q	UGT1A1_ENST00000373450.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A1_ENST00000608381.1_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A1_ENST00000609637.1_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A6_ENST00000373424.1_Intron	NM_007120.2	NP_009051.1														autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1)	26		Breast(86;0.000765)|all_lung(227;0.00266)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0456)|Lung SC(224;0.128)		Epithelial(121;3.49e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000504)|Lung(119;0.0026)|LUSC - Lung squamous cell carcinoma(224;0.00624)		CCCCTGCCGCGGCTGGCCACA	0.627											OREG0003834	type=REGULATORY REGION|Gene=UGT1A4|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	22	60					0	0	1	0	0	A	234627498	G	A	234627498	3	1	279	1	0	0	0	0	1	0	0	0	17007	1116	39	1	34	1	UGT1A4	2	234627498	Missense_Mutation	SNP	G	TCGA-HT-7860-01A-11D-2395-08	14327750	234627498	8571875	16	28252											
IQCF1	132141	broad.mit.edu	37	3	51929217	51929217	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr3:51929217G>A	ENST00000310914.5	-	4	369	c.307C>T	c.(307-309)Cgg>Tgg	p.R103W		NM_152397.2	NP_689610.2	Q8N6M8	IQCF1_HUMAN	IQ motif containing F1	103										central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		AGTATCAGCCGCCACCAGCAC	0.637													59	82					0	0	1	0	0	A	51929217	G	A	51929217	3	1	279	1	0	0	0	0	1	0	0	0	7851	1086	38	1	314	1	IQCF1	3	51929217	Missense_Mutation	SNP	G	TCGA-HT-7860-01A-11D-2395-08		51929217	146093213	17	28253											
ST3GAL6	10402	broad.mit.edu	37	3	98503881	98503881	+	Missense_Mutation	SNP	T	T	A			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr3:98503881T>A	ENST00000394162.1	+	7	895	c.428T>A	c.(427-429)aTa>aAa	p.I143K	ST3GAL6_ENST00000462152.1_3'UTR|ST3GAL6_ENST00000265261.6_Intron|ST3GAL6_ENST00000483910.1_Missense_Mutation_p.I143K	NM_001271145.1|NM_006100.3	NP_001258074.1|NP_006091.1	Q9Y274	SIA10_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 6	143					amino sugar metabolic process|glycolipid metabolic process|protein glycosylation|protein lipoylation	integral to Golgi membrane	sialyltransferase activity			breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(1)	19						GATGTAATAATAAGGTAAATA	0.348													14	24					0	0	1	0	0	A	98503881	T	A	98503881	3	1	279	1	0	0	0	0	1	0	0	0	15275	1406	49	4	446	4	ST3GAL6	3	98503881	Missense_Mutation	SNP	T	TCGA-HT-7860-01A-11D-2395-08	46574664	98503881	99518549	18	28254											
TRIM42	287015	broad.mit.edu	37	3	140401985	140401985	+	Silent	SNP	C	C	T			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr3:140401985C>T	ENST00000286349.3	+	2	1214	c.1023C>T	c.(1021-1023)atC>atT	p.I341I		NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN	tripartite motif containing 42	341						intracellular	zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						TCAGCGCCATCGCCAAGTTCA	0.542													21	54					0	0	1	0	0	T	140401985	C	T	140401985	2	4	279	1	0	0	0	0	0	0	0	1	16578	874	31	1		1	TRIM42	3	140401985	Silent	SNP	C	TCGA-HT-7860-01A-11D-2395-08	41898104	140401985	57620445	19	28255											
PCDH7	5099	broad.mit.edu	37	4	30725552	30725552	+	Missense_Mutation	SNP	C	C	A			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr4:30725552C>A	ENST00000361762.2	+	1	3516	c.2508C>A	c.(2506-2508)caC>caA	p.H836Q	PCDH7_ENST00000543491.1_Missense_Mutation_p.H836Q	NM_002589.2	NP_002580.2	O60245	PCDH7_HUMAN	protocadherin 7	836	Cadherin 7.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						CTCTGGTGCACGTGTTTGTCA	0.493													24	33					3.10358e-05	3.15364e-05	1	1	0	A	30725552	C	A	30725552	3	1	279	1	0	0	0	0	1	0	0	0	11563	535	19	5	2510	5	PCDH7	4	30725552	Missense_Mutation	SNP	C	TCGA-HT-7860-01A-11D-2395-08		30725552	160428724	20	28256											
SPEF2	79925	broad.mit.edu	37	5	35697831	35697831	+	Silent	SNP	T	T	C			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr5:35697831T>C	ENST00000440995.2	+	15	2062	c.2062T>C	c.(2062-2064)Ttg>Ctg	p.L688L	SPEF2_ENST00000356031.3_Silent_p.L693L|CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000509059.1_Silent_p.L688L			Q9C093	SPEF2_HUMAN	sperm flagellar 2	693					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			ATCAGAACAGTTGCTGAAGAA	0.353													23	43					0	0	1	0	0	C	35697831	T	C	35697831	2	2	279	1	0	0	0	0	0	0	0	1	15091	1722	60	3		3	SPEF2	5	35697831	Silent	SNP	T	TCGA-HT-7860-01A-11D-2395-08		35697831	145217429	21	28257											
PPIP5K2	23262	broad.mit.edu	37	5	102513667	102513667	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr5:102513667C>G	ENST00000321521.9	+	23	3313	c.2740C>G	c.(2740-2742)Cca>Gca	p.P914A	PPIP5K2_ENST00000358359.3_Missense_Mutation_p.P914A|PPIP5K2_ENST00000513500.1_3'UTR|PPIP5K2_ENST00000414217.1_Missense_Mutation_p.P914A			O43314	VIP2_HUMAN	diphosphoinositol pentakisphosphate kinase 2	914					inositol metabolic process	cytosol	acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						TGGATATAGACCAGCTTCCAG	0.378													21	76					0	0	1	0	0	G	102513667	C	G	102513667	3	3	279	1	0	0	0	0	1	0	0	0	12382	507	18	5	2826	5	PPIP5K2	5	102513667	Missense_Mutation	SNP	C	TCGA-HT-7860-01A-11D-2395-08	66815836	102513667	78401593	22	28258											
APBB3	10307	broad.mit.edu	37	5	139941733	139941733	+	Missense_Mutation	SNP	T	T	A			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr5:139941733T>A	ENST00000357560.4	-	6	1021	c.578A>T	c.(577-579)cAg>cTg	p.Q193L	APBB3_ENST00000358580.5_Missense_Mutation_p.Q193L|APBB3_ENST00000511201.2_Missense_Mutation_p.Q193L|APBB3_ENST00000412920.3_Missense_Mutation_p.Q193L|APBB3_ENST00000354402.5_Missense_Mutation_p.Q193L|APBB3_ENST00000508496.2_5'UTR|APBB3_ENST00000356738.2_Missense_Mutation_p.Q193L	NM_006051.3|NM_133173.2	NP_006042.3|NP_573419.2	O95704	APBB3_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 3	193	PID 1.					actin cytoskeleton|cytoplasm				endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACCAGAGGCTGGCAGTGGAT	0.602													28	53					0	0	1	0	0	A	139941733	T	A	139941733	3	1	279	1	0	0	0	0	1	0	0	0	758	1580	55	5	931	5	APBB3	5	139941733	Missense_Mutation	SNP	T	TCGA-HT-7860-01A-11D-2395-08	37428066	139941733	40973527	23	28259											
PCDHGC5	56097	broad.mit.edu	37	5	140869027	140869027	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr5:140869027T>C	ENST00000252087.1	+	1	220	c.220T>C	c.(220-222)Tat>Cat	p.Y74H	PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGC4_ENST00000306593.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA7_ENST00000518325.1_Intron	NM_018929.2|NM_032403.2|NM_032407.1	NP_061752.1|NP_115779.1|NP_115783.1	Q9Y5F6	PCDGM_HUMAN		74	Cadherin 1.				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)			GAATGGGCGCTATTTTTCCCT	0.562													56	57					0	0	1	0	0	C	140869027	T	C	140869027	3	2	279	1	0	0	0	0	1	0	0	0	11618	1522	53	3	222	3	PCDHGC5	5	140869027	Missense_Mutation	SNP	T	TCGA-HT-7860-01A-11D-2395-08	927294	140869027	40046233	24	28260											
CD74	972	broad.mit.edu	37	5	149782733	149782733	+	Silent	SNP	G	G	A			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr5:149782733G>A	ENST00000009530.7	-	7	769	c.768C>T	c.(766-768)aaC>aaT	p.N256N	CD74_ENST00000524315.1_Intron|CD74_ENST00000353334.6_Intron|CD74_ENST00000377795.3_Intron			P04233	HG2A_HUMAN	CD74 molecule, major histocompatibility complex, class II invariant chain	256	Thyroglobulin type-1.				antigen processing and presentation of endogenous antigen|cell proliferation|immunoglobulin mediated immune response|intracellular protein transport|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of peptide secretion|positive regulation of B cell proliferation|positive regulation of chemokine (C-X-C motif) ligand 2 production|positive regulation of cytokine-mediated signaling pathway|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|positive regulation of macrophage cytokine production|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation|prostaglandin biosynthetic process|protein complex assembly|regulation of macrophage activation	endoplasmic reticulum membrane|Golgi apparatus|integral to membrane|lysosome|receptor complex	beta-amyloid binding|cytokine receptor activity|identical protein binding|MHC class II protein binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)	5		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCTCCGTGCCGTTGGGGAAGA	0.597			T	ROS1	NSCLC								22	66					0	0	1	0	0	A	149782733	G	A	149782733	2	1	279	1	0	0	0	0	0	0	0	1	3057	1136	40	1		1	CD74	5	149782733	Silent	SNP	G	TCGA-HT-7860-01A-11D-2395-08	8913706	149782733	31132527	25	28261											
HAVCR1	26762	broad.mit.edu	37	5	156476111	156476111	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr5:156476111G>A	ENST00000339252.3	-	4	1251	c.719C>T	c.(718-720)aCg>aTg	p.T240M	HAVCR1_ENST00000522693.1_Missense_Mutation_p.T240M|HAVCR1_ENST00000544197.1_Missense_Mutation_p.T240M|HAVCR1_ENST00000517644.1_5'UTR|HAVCR1_ENST00000523175.1_Missense_Mutation_p.T240M|HAVCR1_ENST00000425854.1_Missense_Mutation_p.T240M	NM_012206.2	NP_036338.2	Q96D42	HAVR1_HUMAN	hepatitis A virus cellular receptor 1	235					interspecies interaction between organisms	integral to membrane	receptor activity			endometrium(3)|large_intestine(2)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CTGCAGTGTCGTAGGGTGGGT	0.483													47	91					0	0	1	0	0	A	156476111	G	A	156476111	3	1	279	1	0	0	0	0	1	0	0	0	7014	1145	40	1	395	1	HAVCR1	5	156476111	Missense_Mutation	SNP	G	TCGA-HT-7860-01A-11D-2395-08	6693378	156476111	24439149	26	28262											
PWWP2A	114825	broad.mit.edu	37	5	159546021	159546022	+	Frame_Shift_Ins	INS	-	-	G			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr5:159546021_159546022insG	ENST00000456329.3	-	1	408_409	c.374_375insC	c.(373-375)ccgfs	p.P125fs	PWWP2A_ENST00000523662.1_Frame_Shift_Ins_p.P125fs|PWWP2A_ENST00000307063.7_Frame_Shift_Ins_p.P125fs	NM_052927.2	NP_443159.1	Q96N64	PWP2A_HUMAN	PWWP domain containing 2A	125	Pro-rich.									kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	5	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)			CCTCGGGAGCCGGGGGCTGCTC	0.748													14	37	---	---	---	---						G	159546022	-	G	159546021	7	5	279	1	0	1	1	0	0	0	0	0	12897	639	23	0	2042	0	PWWP2A	5	159546021	Frame_Shift_Ins	INS	-	TCGA-HT-7860-01A-11D-2395-08	3069910	159546021	21369239	27	28263											
TFAP2D	83741	broad.mit.edu	37	6	50683145	50683145	+	Missense_Mutation	SNP	C	C	A			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr6:50683145C>A	ENST00000008391.3	+	2	584	c.356C>A	c.(355-357)gCg>gAg	p.A119E		NM_172238.3	NP_758438.2	Q7Z6R9	AP2D_HUMAN	transcription factor AP-2 delta (activating enhancer binding protein 2 delta)	119							DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1)	60	Lung NSC(77;0.0334)					CTGCACAATGCGCGGGCGCTC	0.622													58	105					6.60958e-23	7.05769e-23	1	1	0	A	50683145	C	A	50683145	3	1	279	1	0	0	0	0	1	0	0	0	15850	768	27	5	362	5	TFAP2D	6	50683145	Missense_Mutation	SNP	C	TCGA-HT-7860-01A-11D-2395-08		50683145	120431922	28	28264											
MACC1	346389	broad.mit.edu	37	7	20198442	20198442	+	Silent	SNP	G	G	T	rs149661432	by1000genomes	TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr7:20198442G>T	ENST00000400331.5	-	5	1850	c.1542C>A	c.(1540-1542)ctC>ctA	p.L514L	MACC1_ENST00000332878.4_Silent_p.L514L|MACC1_ENST00000589011.1_Silent_p.L514L	NM_182762.3	NP_877439.3	Q6ZN28	MACC1_HUMAN	metastasis associated in colon cancer 1	514					positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	growth factor activity			endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1)	39						GCAGATTCGAGAGTCTTTTTA	0.393													53	129					4.17463e-26	4.49575e-26	1	1	0	T	20198442	G	T	20198442	2	4	279	1	0	0	0	0	0	0	0	1	9189	929	33	4		4	MACC1	7	20198442	Silent	SNP	G	TCGA-HT-7860-01A-11D-2395-08		20198442	138940221	29	28265											
KEL	3792	broad.mit.edu	37	7	142658923	142658923	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr7:142658923G>A	ENST00000355265.2	-	2	514	c.40C>T	c.(40-42)Cgc>Tgc	p.R14C	KEL_ENST00000479768.2_5'UTR	NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	14					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)					GCCTGGCTGCGTTCCCTCGGC	0.542													107	346					0	0	1	0	0	A	142658923	G	A	142658923	3	1	279	1	0	0	0	0	1	0	0	0	8185	1145	40	1	2230	1	KEL	7	142658923	Missense_Mutation	SNP	G	TCGA-HT-7860-01A-11D-2395-08	122460481	142658923	16479740	30	28266											
NOBOX	135935	broad.mit.edu	37	7	144096940	144096940	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr7:144096940C>T	ENST00000467773.1	-	6	1063	c.1064G>A	c.(1063-1065)cGc>cAc	p.R355H	NOBOX_ENST00000483238.1_Missense_Mutation_p.R323H|NOBOX_ENST00000223140.5_Missense_Mutation_p.R238H	NM_001080413.3	NP_001073882.3	O60393	NOBOX_HUMAN	NOBOX oogenesis homeobox	355			R -> H (in POF5).		cell differentiation|oogenesis	nucleus	sequence-specific DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	26	Melanoma(164;0.14)					CTTGGCCCGGCGATTCTGGAA	0.542													10	24					0	0	1	0	0	T	144096940	C	T	144096940	3	4	279	1	0	0	0	0	1	0	0	0	10559	768	27	1	1031	1	NOBOX	7	144096940	Missense_Mutation	SNP	C	TCGA-HT-7860-01A-11D-2395-08	1438017	144096940	15041723	31	28267											
MSR1	4481	broad.mit.edu	37	8	16026364	16026364	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr8:16026364C>T	ENST00000350896.3	-	4	430	c.233G>A	c.(232-234)tGg>tAg	p.W78*	MSR1_ENST00000536385.1_Intron|MSR1_ENST00000445506.2_Nonsense_Mutation_p.W96*|MSR1_ENST00000381998.4_Nonsense_Mutation_p.W78*|MSR1_ENST00000262101.5_Nonsense_Mutation_p.W78*|MSR1_ENST00000355282.2_Nonsense_Mutation_p.W78*	NM_138715.2|NM_138716.2	NP_619729.1|NP_619730.1	P21757	MSRE_HUMAN	macrophage scavenger receptor 1	78	Spacer (Probable).				cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis	collagen|integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|protein binding|scavenger receptor activity			haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	37				Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)		CTTCGTTTCCCACTTCAGGAG	0.388													25	53					0	0	1	0	0	T	16026364	C	T	16026364	4	4	279	1	0	0	0	0	0	1	0	0	9934	595	21	2	1198	2	MSR1	8	16026364	Nonsense_Mutation	SNP	C	TCGA-HT-7860-01A-11D-2395-08		16026364	130337658	32	28268											
PSD3	23362	broad.mit.edu	37	8	18490301	18490301	+	Silent	SNP	T	T	C	rs142080320		TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr8:18490301T>C	ENST00000440756.2	-	11	2340	c.2238A>G	c.(2236-2238)aaA>aaG	p.K746K	PSD3_ENST00000286485.8_Silent_p.K210K|PSD3_ENST00000523619.1_Silent_p.K679K|PSD3_ENST00000327040.8_Silent_p.K744K|PSD3_ENST00000428502.2_Silent_p.K73K			Q9NYI0	PSD3_HUMAN	pleckstrin and Sec7 domain containing 3	745					regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		GAGACTTTTTTTTCTCTTCAT	0.358													21	24					0	0	1	0	0	C	18490301	T	C	18490301	2	2	279	1	0	0	0	0	0	0	0	1	12697	1838	64	3		3	PSD3	8	18490301	Silent	SNP	T	TCGA-HT-7860-01A-11D-2395-08	2463937	18490301	127873721	33	28269											
TNFRSF10C	8794	broad.mit.edu	37	8	22969288	22969288	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr8:22969288T>C	ENST00000356864.3	+	2	648	c.116T>C	c.(115-117)gTg>gCg	p.V39A	TNFRSF10C_ENST00000520607.1_3'UTR|TNFRSF10C_ENST00000540813.1_Intron	NM_003841.3	NP_003832	O14798	TR10C_HUMAN	tumor necrosis factor receptor superfamily, member 10c, decoy without an intracellular domain	39					apoptosis	anchored to membrane|integral to plasma membrane	TRAIL binding|transmembrane receptor activity			endometrium(1)|large_intestine(6)|lung(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	15		Prostate(55;0.0421)|Breast(100;0.067)		Colorectal(74;0.0147)|COAD - Colon adenocarcinoma(73;0.0612)		CAGCAGACAGTGGCCCCACAG	0.507													26	47					0	0	1	0	0	C	22969288	T	C	22969288	3	2	279	1	0	0	0	0	1	0	0	0	16342	1696	59	3	122	3	TNFRSF10C	8	22969288	Missense_Mutation	SNP	T	TCGA-HT-7860-01A-11D-2395-08	4478987	22969288	123394734	34	28270											
GPR124	25960	broad.mit.edu	37	8	37686441	37686441	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr8:37686441C>T	ENST00000315215.7	+	3	737	c.374C>T	c.(373-375)cCg>cTg	p.P125L	GPR124_ENST00000412232.2_Missense_Mutation_p.P125L			Q96PE1	GP124_HUMAN	G protein-coupled receptor 124	125					central nervous system development|endothelial cell migration|neuropeptide signaling pathway|regulation of angiogenesis|regulation of chemotaxis|sprouting angiogenesis	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37			BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			ACAGTGCAGCCGGGCGCCTTC	0.682													37	65					0	0	1	0	0	T	37686441	C	T	37686441	3	4	279	1	0	0	0	0	1	0	0	0	6678	652	23	1	363	1	GPR124	8	37686441	Missense_Mutation	SNP	C	TCGA-HT-7860-01A-11D-2395-08	14717153	37686441	108677581	35	28271											
AIFM2	84883	broad.mit.edu	37	10	71883202	71883202	+	Missense_Mutation	SNP	T	T	C	rs140958169		TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr10:71883202T>C	ENST00000307864.1	-	3	466	c.253A>G	c.(253-255)Ata>Gta	p.I85V	AIFM2_ENST00000373248.1_Missense_Mutation_p.I85V	NM_001198696.1|NM_032797.5	NP_001185625.1|NP_116186.1	Q9BRQ8	AIFM2_HUMAN	apoptosis-inducing factor, mitochondrion-associated, 2	85					apoptotic mitochondrial changes|chromosome condensation|induction of apoptosis	cytosol|integral to membrane|mitochondrial outer membrane	DNA binding|electron-transferring-flavoprotein dehydrogenase activity|flavin adenine dinucleotide binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|urinary_tract(2)	16						TTCAGGTCTATCCCCACTACT	0.597													5	73					0	0	1	0	0	C	71883202	T	C	71883202	3	2	279	1	0	0	0	0	1	0	0	0	424	1435	50	3	896	3	AIFM2	10	71883202	Missense_Mutation	SNP	T	TCGA-HT-7860-01A-11D-2395-08		71883202	63651545	36	28272											
SFTPA1	653509	broad.mit.edu	37	10	81373779	81373779	+	Silent	SNP	G	G	A			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr10:81373779G>A	ENST00000398636.3	+	6	795	c.657G>A	c.(655-657)cgG>cgA	p.R219R	SFTPA1_ENST00000428376.2_Silent_p.R219R|SFTPA1_ENST00000372308.3_Silent_p.R219R|SFTPA1_ENST00000419470.2_Silent_p.R234R|SFTPA1_ENST00000372313.5_Silent_p.R160R	NM_001164644.1|NM_001164646.1|NM_005411.4	NP_001158116.1|NP_001158118.1|NP_005402.3	Q8IWL2	SFTA1_HUMAN	surfactant protein A1	219	C-type lectin.		R -> W (associated with susceptibility to idiopathic pulmonary fibrosis in smokers; allele 6A(4) and allele 6A(5); dbSNP:rs4253527).		cell junction assembly|respiratory gaseous exchange	collagen|extracellular space	lipid transporter activity|sugar binding			endometrium(1)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	all_cancers(46;0.197)|Breast(12;0.000326)|Prostate(51;0.00985)|all_epithelial(25;0.0149)		Epithelial(14;0.00957)|all cancers(16;0.0179)|Colorectal(32;0.229)			CCGCAGGTCGGGGAAAAGAGC	0.562													88	78					0	0	1	0	0	A	81373779	G	A	81373779	2	1	279	1	0	0	0	0	0	0	0	1	14243	1219	43	2		2	SFTPA1	10	81373779	Silent	SNP	G	TCGA-HT-7860-01A-11D-2395-08	9490577	81373779	54160968	37	28273											
PTEN	5728	broad.mit.edu	37	10	89717727	89717727	+	Missense_Mutation	SNP	G	G	C			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr10:89717727G>C	ENST00000371953.3	+	7	2109	c.752G>C	c.(751-753)gGt>gCt	p.G251A	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	251	C2 tensin-type.		G -> C (loss of phosphatase activity towards Ins(1,3,4,5)P4; retains ability to bind phospholipid membranes).		activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.R55fs*1(5)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G251D(2)|p.G165_*404del(1)|p.?(1)|p.G251V(1)|p.G251fs*6(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		CCTGTGTGTGGTGATATCAAA	0.398		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			19	20					0	0	1	0	0	C	89717727	G	C	89717727	3	2	279	1	0	0	0	0	1	0	0	0	12787	1261	44	5	778	5	PTEN	10	89717727	Missense_Mutation	SNP	G	TCGA-HT-7860-01A-11D-2395-08	8343948	89717727	45817020	38	28274											
PKD2L1	9033	broad.mit.edu	37	10	102057297	102057297	+	Silent	SNP	G	G	A			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr10:102057297G>A	ENST00000318222.3	-	5	1180	c.798C>T	c.(796-798)agC>agT	p.S266S	PKD2L1_ENST00000353274.3_Silent_p.S266S|PKD2L1_ENST00000338519.3_Intron	NM_001253837.1|NM_016112.2	NP_001240766.1|NP_057196.2	Q9P0L9	PK2L1_HUMAN	polycystic kidney disease 2-like 1	266					signal transduction	integral to membrane	calcium activated cation channel activity|calcium ion binding|cytoskeletal protein binding			NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	43		Colorectal(252;0.117)		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)		AGCCACCTCCGCTGTAGCTTG	0.627													19	25					0	0	1	0	0	A	102057297	G	A	102057297	2	1	279	1	0	0	0	0	0	0	0	1	12015	1078	38	1		1	PKD2L1	10	102057297	Silent	SNP	G	TCGA-HT-7860-01A-11D-2395-08	12339570	102057297	33477450	39	28275											
MUC6	4588	broad.mit.edu	37	11	1025338	1025338	+	Silent	SNP	G	G	A			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr11:1025338G>A	ENST00000421673.2	-	23	2879	c.2829C>T	c.(2827-2829)aaC>aaT	p.N943N		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	943	VWFD 3.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TGACCGTGTAGTTTCTGTCCG	0.677													54	94					0	0	1	0	0	A	1025338	G	A	1025338	2	1	279	1	0	0	0	0	0	0	0	1	10028	1020	36	2		2	MUC6	11	1025338	Silent	SNP	G	TCGA-HT-7860-01A-11D-2395-08		1025338	133981178	40	28276											
OR8J3	81168	broad.mit.edu	37	11	55904779	55904779	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr11:55904779C>T	ENST00000301529.1	-	1	415	c.416G>A	c.(415-417)cGg>cAg	p.R139Q		NM_001004064.1	NP_001004064.1	Q8NGG0	OR8J3_HUMAN	olfactory receptor, family 8, subfamily J, member 3	139					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R139L(1)|p.R139Q(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	59	Esophageal squamous(21;0.00693)					GAGGCAGAGCCGCCGAGACAC	0.473													33	78					0	0	1	0	0	T	55904779	C	T	55904779	3	4	279	1	0	0	0	0	1	0	0	0	11289	652	23	1	533	1	OR8J3	11	55904779	Missense_Mutation	SNP	C	TCGA-HT-7860-01A-11D-2395-08	54879441	55904779	79101737	41	28277											
HSPA8	3312	broad.mit.edu	37	11	122928498	122928498	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr11:122928498C>G	ENST00000534624.1	-	9	2161	c.1885G>C	c.(1885-1887)Gga>Cga	p.G629R	HSPA8_ENST00000532636.1_Missense_Mutation_p.G629R|HSPA8_ENST00000227378.3_Missense_Mutation_p.G629R|HSPA8_ENST00000526110.1_Missense_Mutation_p.G610R|HSPA8_ENST00000453788.2_Missense_Mutation_p.G476R|HSPA8_ENST00000534319.1_Missense_Mutation_p.G393R|HSPA8_ENST00000533540.1_Missense_Mutation_p.G483R	NM_006597.4	NP_006588.1	P11142	HSP7C_HUMAN	heat shock 70kDa protein 8	629					cellular membrane organization|interspecies interaction between organisms|mRNA metabolic process|negative regulation of transcription, DNA-dependent|neurotransmitter secretion|post-Golgi vesicle-mediated transport|protein folding|response to unfolded protein|transcription, DNA-dependent	cell surface|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|melanosome|plasma membrane|ribonucleoprotein complex	ATP binding|ATPase activity, coupled|protein binding			breast(1)|central_nervous_system(7)|endometrium(1)|kidney(9)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	36		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		GGAGGAGCTCCACCACCAGGA	0.512													52	99					0	0	1	0	0	G	122928498	C	G	122928498	3	3	279	1	0	0	0	0	1	0	0	0	7459	603	21	5	59	5	HSPA8	11	122928498	Missense_Mutation	SNP	C	TCGA-HT-7860-01A-11D-2395-08	67023719	122928498	12078018	42	28278											
OR10G4	390264	broad.mit.edu	37	11	123886716	123886716	+	Silent	SNP	C	C	T	rs144654389	byFrequency	TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr11:123886716C>T	ENST00000320891.4	+	1	435	c.435C>T	c.(433-435)acC>acT	p.T145T		NM_001004462.1	NP_001004462.1	Q8NGN3	O10G4_HUMAN	olfactory receptor, family 10, subfamily G, member 4	145					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)|skin(4)|stomach(6)|upper_aerodigestive_tract(1)	48		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		TCCTGGCCACCGGCACTTGGC	0.547													95	182					0	0	1	0	0	T	123886716	C	T	123886716	2	4	279	1	0	0	0	0	0	0	0	1	10949	639	23	1		1	OR10G4	11	123886716	Silent	SNP	C	TCGA-HT-7860-01A-11D-2395-08	958218	123886716	11119800	43	28279											
ATF7IP	55729	broad.mit.edu	37	12	14576907	14576907	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr12:14576907G>A	ENST00000544627.1	+	2	402	c.82G>A	c.(82-84)Gtg>Atg	p.V28M	ATF7IP_ENST00000536444.1_Missense_Mutation_p.V20M|ATF7IP_ENST00000540793.1_Missense_Mutation_p.V20M|ATF7IP_ENST00000543189.1_Missense_Mutation_p.V20M|ATF7IP_ENST00000261168.4_Missense_Mutation_p.V20M|ATF7IP_ENST00000541654.1_3'UTR			Q6VMQ6	MCAF1_HUMAN	activating transcription factor 7 interacting protein	20					DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent		protein binding			cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						AACGATGAGAGTGAGTGATCG	0.358													20	50					0	0	1	0	0	A	14576907	G	A	14576907	3	1	279	1	0	0	0	0	1	0	0	0	1086	1029	36	2	60	2	ATF7IP	12	14576907	Missense_Mutation	SNP	G	TCGA-HT-7860-01A-11D-2395-08		14576907	119274988	44	28280											
ARHGDIB	397	broad.mit.edu	37	12	15103604	15103604	+	Missense_Mutation	SNP	C	C	T	rs149654565		TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr12:15103604C>T	ENST00000228945.4	-	2	187	c.43G>A	c.(43-45)Gat>Aat	p.D15N	ARHGDIB_ENST00000541546.1_Missense_Mutation_p.D15N|ARHGDIB_ENST00000541644.1_Missense_Mutation_p.D15N	NM_001175.4	NP_001166.3	P52566	GDIR2_HUMAN	Rho GDP dissociation inhibitor (GDI) beta	15					actin cytoskeleton organization|cellular component movement|immune response|multicellular organismal development|negative regulation of cell adhesion|regulation of small GTPase mediated signal transduction|Rho protein signal transduction	cytoplasmic membrane-bounded vesicle|cytoskeleton|cytosol	GTPase activator activity|Rho GDP-dissociation inhibitor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	15						AGCTCATCATCATCATCCTCC	0.438													39	59					0	0	1	0	0	T	15103604	C	T	15103604	3	4	279	1	0	0	0	0	1	0	0	0	888	826	29	2	582	2	ARHGDIB	12	15103604	Missense_Mutation	SNP	C	TCGA-HT-7860-01A-11D-2395-08	526697	15103604	118748291	45	28281											
ABCC9	10060	broad.mit.edu	37	12	22001088	22001088	+	Silent	SNP	G	G	A	rs2291550	by1000genomes	TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr12:22001088G>A	ENST00000261200.4	-	23	2861	c.2862C>T	c.(2860-2862)gaC>gaT	p.D954D	RP11-729I10.2_ENST00000539874.1_RNA|ABCC9_ENST00000345162.2_Silent_p.D918D|ABCC9_ENST00000261201.4_Silent_p.D954D	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	954					defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	ATCTACCTTCGTCTTCGTCCT	0.433													24	32					0	0	1	0	0	A	22001088	G	A	22001088	2	1	279	1	0	0	0	0	0	0	0	1	59	1136	40	1		1	ABCC9	12	22001088	Silent	SNP	G	TCGA-HT-7860-01A-11D-2395-08	6897484	22001088	111850807	46	28282											
ACVRL1	94	broad.mit.edu	37	12	52309035	52309035	+	Missense_Mutation	SNP	C	C	T	rs148640185		TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr12:52309035C>T	ENST00000550683.1	+	6	942	c.841C>T	c.(841-843)Cgc>Tgc	p.R281C	ACVRL1_ENST00000419526.2_Missense_Mutation_p.R93C|ACVRL1_ENST00000388922.4_Missense_Mutation_p.R267C	NM_001077401.1	NP_001070869.1	P37023	ACVL1_HUMAN	activin A receptor type II-like 1	267	Protein kinase.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|blood vessel maturation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of endothelial cell migration|negative regulation of focal adhesion assembly|positive regulation of BMP signaling pathway|positive regulation of transcription, DNA-dependent|regulation of blood pressure|regulation of blood vessel endothelial cell migration|regulation of DNA replication|regulation of endothelial cell proliferation|transforming growth factor beta receptor signaling pathway|wound healing, spreading of epidermal cells	cell surface|integral to plasma membrane	activin binding|activin receptor activity, type I|ATP binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	20				BRCA - Breast invasive adenocarcinoma(357;0.0991)	Adenosine triphosphate(DB00171)	CATGACCTCCCGCAACTCGAG	0.612													18	62					0	0	1	0	0	T	52309035	C	T	52309035	3	4	279	1	0	0	0	0	1	0	0	0	224	652	23	1	821	1	ACVRL1	12	52309035	Missense_Mutation	SNP	C	TCGA-HT-7860-01A-11D-2395-08	30307947	52309035	81542860	47	28283											
KRT83	3889	broad.mit.edu	37	12	52714809	52714809	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr12:52714809G>A	ENST00000293670.3	-	1	373	c.311C>T	c.(310-312)gCg>gTg	p.A104V		NM_002282.3	NP_002273.3	P78385	KRT83_HUMAN	keratin 83	104	Head.				epidermis development	keratin filament	structural molecule activity			NS(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(4)|stomach(7)|upper_aerodigestive_tract(1)	32	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		CACGCACTGCGCGTTGGGGTC	0.627													105	180					0	0	1	0	0	A	52714809	G	A	52714809	3	1	279	1	0	0	0	0	1	0	0	0	8540	1087	38	1	1206	1	KRT83	12	52714809	Missense_Mutation	SNP	G	TCGA-HT-7860-01A-11D-2395-08	405774	52714809	81137086	48	28284											
COPZ1	22818	broad.mit.edu	37	12	54734289	54734289	+	Translation_Start_Site	SNP	A	A	G	rs11170877	by1000genomes	TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr12:54734289A>G	ENST00000549043.1	+	2	96	c.1A>G	c.(1-3)Atg>Gtg	p.M1V	COPZ1_ENST00000553231.1_Intron|COPZ1_ENST00000455864.2_Intron|COPZ1_ENST00000552362.1_Intron|COPZ1_ENST00000551779.1_Intron|COPZ1_ENST00000548281.1_Intron|COPZ1_ENST00000416254.2_Intron|COPZ1_ENST00000552218.1_Intron|COPZ1_ENST00000549116.1_Intron|COPZ1_ENST00000262061.2_Intron|RP11-968A15.8_ENST00000553061.1_RNA|COPZ1_ENST00000548753.1_Intron			P61923	COPZ1_HUMAN	coatomer protein complex, subunit zeta 1	0					COPI coating of Golgi vesicle|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol				kidney(1)|lung(4)	5						ACCAGTGGTGATGGGAGGCTT	0.488													4	54					0	0	1	0	0	G	54734289	A	G	54734289	1	3	279	1	0	0	0	0	0	0	0	0	3764	348	12	3		3	COPZ1	12	54734289	Translation_Start_Site	SNP	A	TCGA-HT-7860-01A-11D-2395-08	2019480	54734289	79117606	49	28285											
SART3	9733	broad.mit.edu	37	12	108919286	108919286	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr12:108919286T>C	ENST00000228284.3	-	17	2705	c.2471A>G	c.(2470-2472)cAt>cGt	p.H824R	SART3_ENST00000431469.2_Missense_Mutation_p.H788R|FICD_ENST00000546448.1_Intron	NM_014706.3	NP_055521.1	Q15020	SART3_HUMAN	squamous cell carcinoma antigen recognized by T cells 3	824	RRM 2.				RNA processing	cytoplasm|nuclear speck	nucleotide binding|protein binding|RNA binding			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|stomach(1)	25						CACGGTGCCATGAGCCTTACA	0.507									Porokeratosis				22	56					0	0	1	0	0	C	108919286	T	C	108919286	3	2	279	1	0	0	0	0	1	0	0	0	13900	1464	51	3	432	3	SART3	12	108919286	Missense_Mutation	SNP	T	TCGA-HT-7860-01A-11D-2395-08	54184997	108919286	24932609	50	28286											
PTPN11	5781	broad.mit.edu	37	12	112888199	112888199	+	Missense_Mutation	SNP	C	C	A	rs121918454		TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr12:112888199C>A	ENST00000351677.2	+	3	413	c.215C>A	c.(214-216)gCc>gAc	p.A72D	PTPN11_ENST00000392597.1_Missense_Mutation_p.A72D	NM_002834.3	NP_002825.3	Q06124	PTN11_HUMAN	protein tyrosine phosphatase, non-receptor type 11	72	SH2 1.		A -> G (in NS1).|A -> S (in NS1).|A -> T (in JMML).|A -> V (in JMML).		axon guidance|cell junction assembly|ephrin receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|platelet activation|regulation of cell adhesion mediated by integrin|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway	cytosol	non-membrane spanning protein tyrosine phosphatase activity|protein binding	p.A72V(35)|p.A72D(3)		NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(406)|kidney(2)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(3)|stomach(3)	451						GAGAAATTTGCCACTTTGGCT	0.418			Mis		"JMML, AML, MDS"		Noonan Syndrome		Noonan syndrome				42	78					2.95478e-19	3.10252e-19	1	1	0	A	112888199	C	A	112888199	3	1	279	1	0	0	0	0	1	0	0	0	12830	739	26	5	225	5	PTPN11	12	112888199	Missense_Mutation	SNP	C	TCGA-HT-7860-01A-11D-2395-08	3968913	112888199	20963696	51	28287											
MORN3	283385	broad.mit.edu	37	12	122091089	122091089	+	Silent	SNP	G	G	A			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr12:122091089G>A	ENST00000355329.3	-	4	710	c.540C>T	c.(538-540)caC>caT	p.H180H		NM_173855.4	NP_776254.3	Q6PF18	MORN3_HUMAN	MORN repeat containing 3	180										breast(2)|large_intestine(1)|lung(4)|skin(1)|stomach(1)	9	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000409)|Epithelial(86;0.00145)		ACAGCTGGCCGTGGTCCAGAT	0.607													30	70					0	0	1	0	0	A	122091089	G	A	122091089	2	1	279	1	0	0	0	0	0	0	0	1	9758	1136	40	1		1	MORN3	12	122091089	Silent	SNP	G	TCGA-HT-7860-01A-11D-2395-08	9202890	122091089	11760806	52	28288											
FANCM	57697	broad.mit.edu	37	14	45623200	45623200	+	Silent	SNP	A	A	G			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr14:45623200A>G	ENST00000267430.5	+	6	1213	c.1128A>G	c.(1126-1128)caA>caG	p.Q376Q	FANCM_ENST00000542564.2_Silent_p.Q350Q|FANCM_ENST00000556036.1_Silent_p.Q376Q	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	376					DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						TATTGCAGCAAATGGGAATGA	0.284								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				29	66					0	0	1	0	0	G	45623200	A	G	45623200	2	3	279	1	0	0	0	0	0	0	0	1	5704	11	1	3		3	FANCM	14	45623200	Silent	SNP	A	TCGA-HT-7860-01A-11D-2395-08		45623200	61726340	53	28289											
HEXA	3073	broad.mit.edu	37	15	72638890	72638891	+	Frame_Shift_Del	DEL	TA	TA	-			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr15:72638890_72638891delTA	ENST00000268097.5	-	11	1810_1811	c.1307_1308delTA	c.(1306-1308)atafs	p.I436fs	RP11-106M3.3_ENST00000570175.1_RNA|HEXA_ENST00000429918.2_Frame_Shift_Del_p.I263fs|HEXA_ENST00000457859.2_Intron|HEXA_ENST00000567159.1_Frame_Shift_Del_p.I436fs|RP11-106M3.2_ENST00000379915.4_RNA|HEXA_ENST00000566304.1_Frame_Shift_Del_p.I447fs	NM_000520.4	NP_000511.2	P06865	HEXA_HUMAN	hexosaminidase A (alpha polypeptide)	436			I -> V (in dbSNP:rs1800431).		cell death	lysosome	beta-N-acetylhexosaminidase activity|cation binding|protein heterodimerization activity			breast(2)|cervix(1)|endometrium(3)|kidney(3)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	24						GGGGTTCCACTATGTAGAAATC	0.579													9	257	---	---	---	---						-	72638891	TA	-	72638890	7	5	279	1	0	1	0	1	0	0	0	0	7114	1512	53	0	297	0	HEXA	15	72638890	Frame_Shift_Del	DEL	TA	TCGA-HT-7860-01A-11D-2395-08		72638890	29892502	54	28290											
HCN4	10021	broad.mit.edu	37	15	73616057	73616057	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr15:73616057T>C	ENST00000261917.3	-	8	3370	c.2377A>G	c.(2377-2379)Ata>Gta	p.I793V		NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 4	793					blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		GTGAGGGCTATGGCCACAGAA	0.697													19	28					0	0	1	0	0	C	73616057	T	C	73616057	3	2	279	1	0	0	0	0	1	0	0	0	7040	1464	51	3	1238	3	HCN4	15	73616057	Missense_Mutation	SNP	T	TCGA-HT-7860-01A-11D-2395-08	977167	73616057	28915335	55	28291											
ADAMTS17	170691	broad.mit.edu	37	15	100657167	100657167	+	Silent	SNP	G	G	A			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr15:100657167G>A	ENST00000268070.4	-	13	1878	c.1773C>T	c.(1771-1773)gtC>gtT	p.V591V		NM_139057.2	NP_620688.2	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 17	591	TSP type-1 1.				proteolysis	intracellular|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)	50	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)		GGTTCTCGCAGACCGCATGTT	0.627													18	27					0	0	1	0	0	A	100657167	G	A	100657167	2	1	279	1	0	0	0	0	0	0	0	1	261	929	33	2		2	ADAMTS17	15	100657167	Silent	SNP	G	TCGA-HT-7860-01A-11D-2395-08	27041110	100657167	1874225	56	28292											
TNRC6A	27327	broad.mit.edu	37	16	24817937	24817937	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr16:24817937C>T	ENST00000395799.3	+	17	4501	c.4372C>T	c.(4372-4374)Cgt>Tgt	p.R1458C	CTD-2515A14.1_ENST00000568895.1_RNA|TNRC6A_ENST00000315183.7_Missense_Mutation_p.R1409C	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	1458					negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		GCAACAATCTCGTCAACTTGA	0.443													44	71					0	0	1	0	0	T	24817937	C	T	24817937	3	4	279	1	0	0	0	0	1	0	0	0	16400	884	31	1	4438	1	TNRC6A	16	24817937	Missense_Mutation	SNP	C	TCGA-HT-7860-01A-11D-2395-08		24817937	65536816	57	28293											
KCTD19	146212	broad.mit.edu	37	16	67327473	67327473	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr16:67327473C>T	ENST00000304372.5	-	12	2247	c.2192G>A	c.(2191-2193)tGg>tAg	p.W731*		NM_001100915.1	NP_001094385.1	Q17RG1	KCD19_HUMAN	potassium channel tetramerization domain containing 19	731						voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)		CTGCTTGCTCCAGTCCTTCAG	0.547													13	158					0	0	1	0	0	T	67327473	C	T	67327473	4	4	279	1	0	0	0	0	0	1	0	0	8150	595	21	2	608	2	KCTD19	16	67327473	Nonsense_Mutation	SNP	C	TCGA-HT-7860-01A-11D-2395-08	42509536	67327473	23027280	58	28294											
PKD1L2	114780	broad.mit.edu	37	16	81155301	81155301	+	RNA	SNP	C	C	T			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr16:81155301C>T	ENST00000533478.1	-	0	4556				PKD1L2_ENST00000534142.1_RNA|PKD1L2_ENST00000525539.1_RNA	NM_001278425.1	NP_001265354.1	Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						TGCAGGGCCGCGTGCGTAAAA	0.597													4	14					0	0	1	0	0	T	81155301	C	T	81155301	1	4	279	0	1	0	0	0	0	0	0	0	12013	768	27	1		1	PKD1L2	16	81155301	RNA	SNP	C	TCGA-HT-7860-01A-11D-2395-08	13827828	81155301	9199452	59	28295											
PKD1L2	114780	broad.mit.edu	37	16	81171126	81171126	+	RNA	SNP	C	C	T			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr16:81171126C>T	ENST00000533478.1	-	0	3690				PKD1L2_ENST00000525539.1_RNA	NM_001278425.1	NP_001265354.1	Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						AAGAAAGCAGCGAATCCCAGC	0.577													7	10					0	0	1	0	0	T	81171126	C	T	81171126	1	4	279	0	1	0	0	0	0	0	0	0	12013	768	27	1		1	PKD1L2	16	81171126	RNA	SNP	C	TCGA-HT-7860-01A-11D-2395-08	15825	81171126	9183627	60	28296											
MYH8	4626	broad.mit.edu	37	17	10318643	10318643	+	Missense_Mutation	SNP	G	G	C			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr17:10318643G>C	ENST00000403437.2	-	8	801	c.707C>G	c.(706-708)gCc>gGc	p.A236G	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	236	Myosin head-like.				muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						CACAGTTTTGGCATTGCCAAA	0.483									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				57	117					0	0	1	0	0	C	10318643	G	C	10318643	3	2	279	1	0	0	0	0	1	0	0	0	10089	1203	42	5	5238	5	MYH8	17	10318643	Missense_Mutation	SNP	G	TCGA-HT-7860-01A-11D-2395-08		10318643	70876567	61	28297											
GRAP	10750	broad.mit.edu	37	17	18927576	18927576	+	Silent	SNP	G	G	A			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr17:18927576G>A	ENST00000284154.5	-	4	1130	c.420C>T	c.(418-420)atC>atT	p.I140I	GRAP_ENST00000573099.1_Intron|GRAP_ENST00000395635.1_Silent_p.I111I	NM_006613.3	NP_006604.1	Q13588	GRAP_HUMAN	GRB2-related adaptor protein	140	SH2.				cell-cell signaling|Ras protein signal transduction	cytoplasm	SH3/SH2 adaptor activity			large_intestine(1)|urinary_tract(1)	2	all_cancers(12;0.0183)					GCTTCTTGGCGATGGTGGTGG	0.622													6	17					0	0	1	0	0	A	18927576	G	A	18927576	2	1	279	1	0	0	0	0	0	0	0	1	6794	1048	37	1		1	GRAP	17	18927576	Silent	SNP	G	TCGA-HT-7860-01A-11D-2395-08	8608933	18927576	62267634	62	28298											
NF1	4763	broad.mit.edu	37	17	29483060	29483064	+	Frame_Shift_Del	DEL	GGAAT	GGAAT	-			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr17:29483060_29483064delGGAAT	ENST00000358273.4	+	2	503_507	c.120_124delGGAAT	c.(118-126)aaggaatgtfs	p.EC41fs	NF1_ENST00000431387.4_Frame_Shift_Del_p.EC41fs|NF1_ENST00000356175.3_Frame_Shift_Del_p.EC41fs	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	41					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(3)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		AGCACAACAAGGAATGTCTAATCAA	0.332			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			13	32	---	---	---	---						-	29483064	GGAAT	-	29483060	7	5	279	1	0	1	0	1	0	0	0	0	10403	991	35	0	126	0	NF1	17	29483060	Frame_Shift_Del	DEL	GGAAT	TCGA-HT-7860-01A-11D-2395-08	10555484	29483060	51712150	63	28299											
NF1	4763	broad.mit.edu	37	17	29664446	29664446	+	Nonsense_Mutation	SNP	T	T	A			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr17:29664446T>A	ENST00000358273.4	+	43	6871	c.6488T>A	c.(6487-6489)tTg>tAg	p.L2163*	NF1_ENST00000356175.3_Nonsense_Mutation_p.L2142*	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	2163					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(3)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		AAATTTTACTTGCTGTTTGGC	0.423			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			20	36					0	0	1	0	0	A	29664446	T	A	29664446	4	1	279	1	0	0	0	0	0	1	0	0	10403	1821	63	5	6719	5	NF1	17	29664446	Nonsense_Mutation	SNP	T	TCGA-HT-7860-01A-11D-2395-08	181386	29664446	51530764	64	28300			1	27		2	2	21	N	T_G	5.685193e-05
NF1	4763	broad.mit.edu	37	17	29664466	29664466	+	Missense_Mutation	SNP	G	G	C			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr17:29664466G>C	ENST00000358273.4	+	43	6891	c.6508G>C	c.(6508-6510)Gtc>Ctc	p.V2170L	NF1_ENST00000356175.3_Missense_Mutation_p.V2149L	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	2170					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(3)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		CATTAGCAAAGTCAAGTCAGC	0.443			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			26	43					0	0	1	0	0	C	29664466	G	C	29664466	3	2	279	1	0	0	0	0	1	0	0	0	10403	1029	36	4	6739	4	NF1	17	29664466	Missense_Mutation	SNP	G	TCGA-HT-7860-01A-11D-2395-08	20	29664466	51530744	65	28301			1	27		2	2	21	N	T_G	5.685193e-05
TNFRSF11A	8792	broad.mit.edu	37	18	60052048	60052048	+	Silent	SNP	C	C	T			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr18:60052048C>T	ENST00000586569.1	+	10	1670	c.1632C>T	c.(1630-1632)ggC>ggT	p.G544G	TNFRSF11A_ENST00000269485.7_Silent_p.G227G	NM_001270949.1|NM_003839.3	NP_001257878.1|NP_003830.1	Q9Y6Q6	TNR11_HUMAN	tumor necrosis factor receptor superfamily, member 11a, NFKB activator	544					adaptive immune response|cell-cell signaling|circadian temperature homeostasis|monocyte chemotaxis|osteoclast differentiation|positive regulation of cell proliferation|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling|positive regulation of fever generation by positive regulation of prostaglandin secretion|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|response to interleukin-1|response to lipopolysaccharide	external side of plasma membrane|integral to membrane	metal ion binding|tumor necrosis factor receptor activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(13)|skin(3)|upper_aerodigestive_tract(1)	29		Colorectal(73;0.188)				ACTTCAAGGGCGACATCATCG	0.652													10	23					0	0	1	0	0	T	60052048	C	T	60052048	2	4	279	1	0	0	0	0	0	0	0	1	16344	755	27	1		1	TNFRSF11A	18	60052048	Silent	SNP	C	TCGA-HT-7860-01A-11D-2395-08		60052048	18025200	66	28302											
LMNB2	84823	broad.mit.edu	37	19	2433894	2433894	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr19:2433894G>A	ENST00000325327.3	-	8	1474	c.1412C>T	c.(1411-1413)tCg>tTg	p.S471L	LMNB2_ENST00000582871.1_Missense_Mutation_p.S451L			Q03252	LMNB2_HUMAN	lamin B2	451	Tail.					nuclear inner membrane	structural molecule activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18		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)		GACGCTACCCGAGGCCGAGGC	0.667													46	130					0	0	1	0	0	A	2433894	G	A	2433894	3	1	279	1	0	0	0	0	1	0	0	0	8891	1059	37	1	470	1	LMNB2	19	2433894	Missense_Mutation	SNP	G	TCGA-HT-7860-01A-11D-2395-08		2433894	56695089	67	28303											
KHSRP	8570	broad.mit.edu	37	19	6416895	6416895	+	Splice_Site	SNP	T	T	G			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr19:6416895T>G	ENST00000398148.3	-	13	1275		c.e13-2			NM_003685.2	NP_003676.2	Q92945	FUBP2_HUMAN	KH-type splicing regulatory protein						mRNA processing|mRNA transport|regulation of transcription, DNA-dependent|RNA splicing, via transesterification reactions|transcription, DNA-dependent	cytosol|nucleus	DNA binding|protein binding|RNA binding			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(3)|liver(1)|lung(6)|skin(1)|soft_tissue(1)	17						GGGACCACTCTGCAAGACAAG	0.687													24	62					0	0	1	0	0	G	6416895	T	G	6416895	5	3	279	1	0	0	0	0	0	0	1	0	8193	1594	55	5	986	5	KHSRP	19	6416895	Splice_Site	SNP	T	TCGA-HT-7860-01A-11D-2395-08	3983001	6416895	52712088	68	28304											
STXBP2	6813	broad.mit.edu	37	19	7705819	7705819	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr19:7705819G>A	ENST00000441779.2	+	6	429	c.392G>A	c.(391-393)cGc>cAc	p.R131H	STXBP2_ENST00000221283.5_Missense_Mutation_p.R120H|CTD-3214H19.4_ENST00000595866.1_3'UTR|STXBP2_ENST00000414284.2_Missense_Mutation_p.R117H	NM_001272034.1	NP_001258963.1	Q15833	STXB2_HUMAN	syntaxin binding protein 2	120					leukocyte mediated cytotoxicity|neutrophil degranulation|protein transport|regulation of mast cell degranulation|vesicle docking involved in exocytosis	azurophil granule|cytolytic granule|cytosol|specific granule|tertiary granule	syntaxin-3 binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	23						GAGCTAGGCCGCTCTCGTCTG	0.662													47	159					0	0	1	0	0	A	7705819	G	A	7705819	3	1	279	1	0	0	0	0	1	0	0	0	15409	1087	38	1	381	1	STXBP2	19	7705819	Missense_Mutation	SNP	G	TCGA-HT-7860-01A-11D-2395-08	1288924	7705819	51423164	69	28305											
MUC16	94025	broad.mit.edu	37	19	9063480	9063480	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr19:9063480G>A	ENST00000397910.4	-	3	24169	c.23966C>T	c.(23965-23967)aCa>aTa	p.T7989I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7991	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.T7989R(2)|p.T3622R(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTCTGGTAATGTGGAGGAAAC	0.468													21	53					0	0	1	0	0	A	9063480	G	A	9063480	3	1	279	1	0	0	0	0	1	0	0	0	10021	1377	48	2	19885	2	MUC16	19	9063480	Missense_Mutation	SNP	G	TCGA-HT-7860-01A-11D-2395-08	1357661	9063480	50065503	70	28306											
MUC16	94025	broad.mit.edu	37	19	9065959	9065959	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr19:9065959G>T	ENST00000397910.4	-	3	21690	c.21487C>A	c.(21487-21489)Ctg>Atg	p.L7163M		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7165	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CCAGTGGTCAGTCTCTCATCT	0.512													51	109					4.44712e-29	4.8305e-29	1	1	0	T	9065959	G	T	9065959	3	4	279	1	0	0	0	0	1	0	0	0	10021	1020	36	4	22364	4	MUC16	19	9065959	Missense_Mutation	SNP	G	TCGA-HT-7860-01A-11D-2395-08	2479	9065959	50063024	71	28307											
AP1M2	10053	broad.mit.edu	37	19	10687903	10687903	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr19:10687903C>T	ENST00000590923.1	-	9	1107	c.1024G>A	c.(1024-1026)Gtc>Atc	p.V342I	AP1M2_ENST00000250244.6_Missense_Mutation_p.V340I			Q9Y6Q5	AP1M2_HUMAN	adaptor-related protein complex 1, mu 2 subunit	340	MHD.				cellular membrane organization|post-Golgi vesicle-mediated transport|protein targeting|regulation of defense response to virus by virus|vesicle targeting|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding			endometrium(4)|large_intestine(1)|lung(1)|ovary(2)|urinary_tract(1)	9			Epithelial(33;1.58e-05)|all cancers(31;6.36e-05)			CAAATCACGACGTTTCTCTCC	0.597													6	29					0	0	1	0	0	T	10687903	C	T	10687903	3	4	279	1	0	0	0	0	1	0	0	0	731	536	19	1	269	1	AP1M2	19	10687903	Missense_Mutation	SNP	C	TCGA-HT-7860-01A-11D-2395-08	1621944	10687903	48441080	72	28308											
MAST1	22983	broad.mit.edu	37	19	12977541	12977541	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr19:12977541C>T	ENST00000251472.4	+	18	2143	c.2104C>T	c.(2104-2106)Cgc>Tgc	p.R702C		NM_014975.2	NP_055790.1	Q9Y2H9	MAST1_HUMAN	microtubule associated serine/threonine kinase 1	702	AGC-kinase C-terminal.				cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						CGTGGAAATCCGCCAGTTCTC	0.622													12	29					0	0	1	0	0	T	12977541	C	T	12977541	3	4	279	1	0	0	0	0	1	0	0	0	9374	652	23	1	2174	1	MAST1	19	12977541	Missense_Mutation	SNP	C	TCGA-HT-7860-01A-11D-2395-08	2289638	12977541	46151442	73	28309											
MED26	9441	broad.mit.edu	37	19	16687579	16687579	+	Silent	SNP	C	C	T			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr19:16687579C>T	ENST00000263390.3	-	3	1324	c.1062G>A	c.(1060-1062)ccG>ccA	p.P354P	CTD-3222D19.2_ENST00000409035.1_Silent_p.P362P	NM_004831.3	NP_004822.2	O95402	MED26_HUMAN	mediator complex subunit 26	354					regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|RNA polymerase II transcription cofactor activity|transcription coactivator activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|skin(1)	8						CCTTGCAGCCCGGCCCCGCCA	0.706													13	25					0	0	1	0	0	T	16687579	C	T	16687579	2	4	279	1	0	0	0	0	0	0	0	1	9494	639	23	1		1	MED26	19	16687579	Silent	SNP	C	TCGA-HT-7860-01A-11D-2395-08	3710038	16687579	42441404	74	28310											
ACTN4	81	broad.mit.edu	37	19	39212280	39212280	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr19:39212280C>T	ENST00000252699.2	+	12	1470	c.1394C>T	c.(1393-1395)gCg>gTg	p.A465V	ACTN4_ENST00000424234.2_Intron|ACTN4_ENST00000390009.3_Missense_Mutation_p.A246V	NM_004924.4	NP_004915.2	O43707	ACTN4_HUMAN	actinin, alpha 4	465					platelet activation|platelet degranulation|positive regulation of cellular component movement|positive regulation of sodium:hydrogen antiporter activity|protein transport|regulation of apoptosis	extracellular region|nucleolus|perinuclear region of cytoplasm|platelet alpha granule lumen|protein complex|pseudopodium|ribonucleoprotein complex	actin filament binding|calcium ion binding|integrin binding|nucleoside binding|protein homodimerization activity			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|urinary_tract(3)	30	all_cancers(60;1.57e-05)|Ovarian(47;0.103)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			GACCTGGCTGCGCACCAGGAC	0.617													29	90					0	0	1	0	0	T	39212280	C	T	39212280	3	4	279	1	0	0	0	0	1	0	0	0	207	768	27	1	1440	1	ACTN4	19	39212280	Missense_Mutation	SNP	C	TCGA-HT-7860-01A-11D-2395-08	22524701	39212280	19916703	75	28311											
IRGC	56269	broad.mit.edu	37	19	44222962	44222962	+	Silent	SNP	G	G	A			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr19:44222962G>A	ENST00000244314.5	+	2	451	c.252G>A	c.(250-252)gcG>gcA	p.A84A		NM_019612.3	NP_062558.1	Q6NXR0	IIGP5_HUMAN	immunity-related GTPase family, cinema	84						membrane	GTP binding|hydrolase activity, acting on acid anhydrides	p.A84A(1)		central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(2)	25		Prostate(69;0.0435)				ACCCTGGCGCGGCTCTCACGG	0.682													44	152					0	0	1	0	0	A	44222962	G	A	44222962	2	1	279	1	0	0	0	0	0	0	0	1	7882	1103	39	1		1	IRGC	19	44222962	Silent	SNP	G	TCGA-HT-7860-01A-11D-2395-08	5010682	44222962	14906021	76	28312											
RUVBL2	10856	broad.mit.edu	37	19	49518835	49518835	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr19:49518835G>A	ENST00000413176.2	+	14	2271	c.1123G>A	c.(1123-1125)Gaa>Aaa	p.E375K	RUVBL2_ENST00000601968.1_Silent_p.Q331Q|RUVBL2_ENST00000595090.1_Missense_Mutation_p.E420K			Q9Y230	RUVB2_HUMAN	RuvB-like AAA ATPase 2	420					cellular response to UV|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|protein folding|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|Ino80 complex|membrane|MLL1 complex|NuA4 histone acetyltransferase complex|nuclear matrix	ATP binding|ATP-dependent DNA helicase activity|damaged DNA binding|identical protein binding|unfolded protein binding			large_intestine(1)|upper_aerodigestive_tract(1)	2		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000449)|OV - Ovarian serous cystadenocarcinoma(262;0.000555)|GBM - Glioblastoma multiforme(486;0.00585)|Epithelial(262;0.047)		CCAGGGTACAGAAGTGCAGGT	0.602													40	109					0	0	1	0	0	A	49518835	G	A	49518835	3	1	279	1	0	0	0	0	1	0	0	0	13805	943	33	2	1312	2	RUVBL2	19	49518835	Missense_Mutation	SNP	G	TCGA-HT-7860-01A-11D-2395-08	5295873	49518835	9610148	77	28313											
MYBPC2	4606	broad.mit.edu	37	19	50939931	50939931	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr19:50939931C>T	ENST00000357701.5	+	5	454	c.403C>T	c.(403-405)Cgc>Tgc	p.R135C		NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type	135	Ig-like C2-type 1.				cell adhesion|muscle filament sliding	cytosol|myosin filament	actin binding|structural constituent of muscle			breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		TGGGTATTACCGCCTCGAGGT	0.612													42	146					0	0	1	0	0	T	50939931	C	T	50939931	3	4	279	1	0	0	0	0	1	0	0	0	10060	652	23	1	421	1	MYBPC2	19	50939931	Missense_Mutation	SNP	C	TCGA-HT-7860-01A-11D-2395-08	1421096	50939931	8189052	78	28314											
LILRA6	79168	broad.mit.edu	37	19	54746595	54746595	+	Silent	SNP	C	C	T			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr19:54746595C>T	ENST00000440558.2	-	1	54	c.6G>A	c.(4-6)acG>acA	p.T2T	LILRA6_ENST00000419410.2_Silent_p.T2T|LILRA6_ENST00000391735.3_Silent_p.T2T|LILRA6_ENST00000270464.5_Silent_p.T2T|LILRA6_ENST00000396365.2_Silent_p.T2T|LILRA6_ENST00000245621.5_Silent_p.T2T|LILRB3_ENST00000407860.2_Silent_p.T2T					leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6											central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(20)|ovary(3)|skin(2)|urinary_tract(2)	38	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TGAGGGCGGGCGTCATGGCGT	0.647													13	130					0	0	1	0	0	T	54746595	C	T	54746595	2	4	279	1	0	0	0	0	0	0	0	1	8829	755	27	1		1	LILRA6	19	54746595	Silent	SNP	C	TCGA-HT-7860-01A-11D-2395-08	3806664	54746595	4382388	79	28315											
NLRP5	126206	broad.mit.edu	37	19	56539531	56539531	+	Silent	SNP	C	C	T			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr19:56539531C>T	ENST00000390649.3	+	7	1932	c.1932C>T	c.(1930-1932)gaC>gaT	p.D644D		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	644						mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		TGAGCGAAGACGTAAGGAGGC	0.552													37	114					0	0	1	0	0	T	56539531	C	T	56539531	2	4	279	1	0	0	0	0	0	0	0	1	10527	535	19	1		1	NLRP5	19	56539531	Silent	SNP	C	TCGA-HT-7860-01A-11D-2395-08	1792936	56539531	2589452	80	28316											
PFDN4	5203	broad.mit.edu	37	20	52831957	52831957	+	Missense_Mutation	SNP	A	A	C			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr20:52831957A>C	ENST00000371419.2	+	3	505	c.251A>C	c.(250-252)cAa>cCa	p.Q84P	PFDN4_ENST00000487129.1_3'UTR	NM_002623.3	NP_002614.2	Q9NQP4	PFD4_HUMAN	prefoldin subunit 4	84					'de novo' posttranslational protein folding	prefoldin complex	chaperone binding|unfolded protein binding			endometrium(1)|kidney(2)	3	Lung NSC(4;1.08e-05)|all_lung(4;2.7e-05)		Colorectal(105;0.124)|STAD - Stomach adenocarcinoma(23;0.206)			GAAGAAACGCAAGAAATGTTA	0.313													12	47					0	0	1	0	0	C	52831957	A	C	52831957	3	2	279	1	0	0	0	0	1	0	0	0	11805	130	5	5	261	5	PFDN4	20	52831957	Missense_Mutation	SNP	A	TCGA-HT-7860-01A-11D-2395-08		52831957	10193563	81	28317											
HRH3	11255	broad.mit.edu	37	20	60793682	60793682	+	Silent	SNP	G	G	A			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr20:60793682G>A	ENST00000340177.5	-	2	566	c.282C>T	c.(280-282)taC>taT	p.Y94Y	HRH3_ENST00000317393.6_Silent_p.Y94Y	NM_007232.2	NP_009163.2	Q9Y5N1	HRH3_HUMAN	histamine receptor H3	94					G-protein signaling, coupled to cyclic nucleotide second messenger|neurotransmitter secretion	integral to plasma membrane	histamine receptor activity			breast(1)|endometrium(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	9	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;7.08e-07)		Histamine Phosphate(DB00667)	CTGTCAGCACGTAGGGTACAT	0.632													14	50					0	0	1	0	0	A	60793682	G	A	60793682	2	1	279	1	0	0	0	0	0	0	0	1	7398	1140	40	1		1	HRH3	20	60793682	Silent	SNP	G	TCGA-HT-7860-01A-11D-2395-08	7961725	60793682	2231838	82	28318											
TMPRSS3	64699	broad.mit.edu	37	21	43810090	43810090	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr21:43810090T>C	ENST00000291532.3	-	3	1106	c.151A>G	c.(151-153)Atc>Gtc	p.I51V	TMPRSS3_ENST00000433957.2_Missense_Mutation_p.I51V|TMPRSS3_ENST00000380399.1_Missense_Mutation_p.I135V|TMPRSS3_ENST00000398397.3_Missense_Mutation_p.I51V|TMPRSS3_ENST00000398405.1_Missense_Mutation_p.I49V	NM_032404.2	NP_115780.1	P57727	TMPS3_HUMAN	transmembrane protease, serine 3	51				LKFFPIIVI -> FEVFSQSSSL (in Ref. 1; AAG37012).	cellular sodium ion homeostasis|proteolysis	endoplasmic reticulum membrane|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity|sodium channel regulator activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(4)|skin(1)	13						ATGACGATGATTGGAAAAAAC	0.433													28	54					0	0	1	0	0	C	43810090	T	C	43810090	3	2	279	1	0	0	0	0	1	0	0	0	16308	1493	52	3	1340	3	TMPRSS3	21	43810090	Missense_Mutation	SNP	T	TCGA-HT-7860-01A-11D-2395-08		43810090	4319805	83	28319											
ARSD	414	broad.mit.edu	37	X	2836028	2836028	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chrX:2836028G>A	ENST00000381154.1	-	5	755	c.680C>T	c.(679-681)gCg>gTg	p.A227V	ARSD_ENST00000217890.6_5'UTR	NM_001669.3	NP_001660.2	P51689	ARSD_HUMAN	arylsulfatase D	227						lysosome	arylsulfatase activity|metal ion binding			large_intestine(3)|lung(3)	6		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GACTGCTCTCGCGGAGACAGA	0.622													9	23					0	0	1	0	0	A	2836028	G	A	2836028	3	1	279	1	0	0	0	0	1	0	0	0	988	1087	38	1	1278	1	ARSD	23	2836028	Missense_Mutation	SNP	G	TCGA-HT-7860-01A-11D-2395-08		2836028	152434532	84	28320											
MAGEB2	4113	broad.mit.edu	37	X	30237647	30237647	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chrX:30237647C>T	ENST00000378988.4	+	2	1051	c.950C>T	c.(949-951)gCc>gTc	p.A317V		NM_002364.4	NP_002355.2	O15479	MAGB2_HUMAN	melanoma antigen family B, 2	317							protein binding			breast(1)|large_intestine(3)|lung(17)|ovary(1)|skin(1)	23						GAAGAGAAAGCCGGAGTCTGA	0.498													23	43					0	0	1	0	0	T	30237647	C	T	30237647	3	4	279	1	0	0	0	0	1	0	0	0	9226	739	26	2	952	2	MAGEB2	23	30237647	Missense_Mutation	SNP	C	TCGA-HT-7860-01A-11D-2395-08	27401619	30237647	125032913	85	28321											
MED14	9282	broad.mit.edu	37	X	40518771	40518771	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chrX:40518771T>C	ENST00000324817.1	-	27	3891	c.3773A>G	c.(3772-3774)aAc>aGc	p.N1258S		NM_004229.3	NP_004220.2	O60244	MED14_HUMAN	mediator complex subunit 14	1258					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			NS(2)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						AAGCGTTTGGTTGGTTTTGGG	0.398													39	61					0	0	1	0	0	C	40518771	T	C	40518771	3	2	279	1	0	0	0	0	1	0	0	0	9482	1725	60	3	611	3	MED14	23	40518771	Missense_Mutation	SNP	T	TCGA-HT-7860-01A-11D-2395-08	10281124	40518771	114751789	86	28322											
DDX26B	203522	broad.mit.edu	37	X	134715064	134715064	+	Missense_Mutation	SNP	G	G	A	rs143980255		TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chrX:134715064G>A	ENST00000370752.4	+	16	2807	c.2473G>A	c.(2473-2475)Gca>Aca	p.A825T	DDX26B_ENST00000481908.1_3'UTR	NM_182540.4	NP_872346.3	Q5JSJ4	DX26B_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26B	825										large_intestine(1)|lung(8)	9	Acute lymphoblastic leukemia(192;6.56e-05)					CAAGGAAGCCGCAAGGTAGGT	0.383													5	13					0	0	1	0	0	A	134715064	G	A	134715064	3	1	279	1	0	0	0	0	1	0	0	0	4376	1087	38	1	2535	1	DDX26B	23	134715064	Missense_Mutation	SNP	G	TCGA-HT-7860-01A-11D-2395-08	94196293	134715064	20555496	87	28323											
AVPR2	554	broad.mit.edu	37	X	153172155	153172155	+	Silent	SNP	C	C	T			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chrX:153172155C>T	ENST00000358927.2	+	4	1298	c.1089C>T	c.(1087-1089)tcC>tcT	p.S363S	AVPR2_ENST00000337474.5_Silent_p.S363S|AVPR2_ENST00000370049.1_3'UTR			P30518	V2R_HUMAN	arginine vasopressin receptor 2	363					activation of adenylate cyclase activity|excretion|G-protein signaling, coupled to cAMP nucleotide second messenger|hemostasis|positive regulation of gene expression|transmembrane transport|water transport	endoplasmic reticulum|endosome|Golgi apparatus|integral to plasma membrane	vasopressin receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	26	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				Conivaptan(DB00872)|Terlipressin(DB02638)|Vasopressin(DB00067)	CCGCCAGCTCCTCCCTGGCCA	0.642													18	71					0	0	1	0	0	T	153172155	C	T	153172155	2	4	279	1	0	0	0	0	0	0	0	1	1231	668	24	2		2	AVPR2	23	153172155	Silent	SNP	C	TCGA-HT-7860-01A-11D-2395-08	18457091	153172155	2098405	88	28324											
KLHDC7A	127707	broad.mit.edu	37	1	18809173	18809173	+	Silent	SNP	G	G	A			TCGA-HT-7873-01B-11D-2395-08	TCGA-HT-7873-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc65ab63-a507-4dbf-becf-93fc7d1bea3d	b7ec26c5-3d2d-4164-9de2-7202c49e4429	g.chr1:18809173G>A	ENST00000400664.1	+	1	1750	c.1698G>A	c.(1696-1698)acG>acA	p.T566T		NM_152375.2	NP_689588.2	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A	566						integral to membrane				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		ACCCGCTCACGGGGATCTGGA	0.667													15	29					0	0	1	0	0	A	18809173	G	A	18809173	2	1	280	1	0	0	0	0	0	0	0	1	8403	1103	39	1		1	KLHDC7A	1	18809173	Silent	SNP	G	TCGA-HT-7873-01B-11D-2395-08		18809173	230441448	1	28325											
SLC9A1	6548	broad.mit.edu	37	1	27440680	27440680	+	Silent	SNP	G	G	A			TCGA-HT-7873-01B-11D-2395-08	TCGA-HT-7873-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc65ab63-a507-4dbf-becf-93fc7d1bea3d	b7ec26c5-3d2d-4164-9de2-7202c49e4429	g.chr1:27440680G>A	ENST00000263980.3	-	2	1025	c.450C>T	c.(448-450)ggC>ggT	p.G150G	SLC9A1_ENST00000545949.1_Intron|SLC9A1_ENST00000374086.3_Silent_p.G150G	NM_003047.4	NP_003038.2	P19634	SL9A1_HUMAN	solute carrier family 9, subfamily A (NHE1, cation proton antiporter 1), member 1	150					regulation of pH	integral to membrane	sodium:hydrogen antiporter activity	p.G150G(1)		central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27				UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;2.19e-50)|OV - Ovarian serous cystadenocarcinoma(117;1.8e-29)|Colorectal(126;7.61e-09)|COAD - Colon adenocarcinoma(152;9.32e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000521)|KIRC - Kidney renal clear cell carcinoma(1967;0.00079)|STAD - Stomach adenocarcinoma(196;0.00125)|READ - Rectum adenocarcinoma(331;0.046)	Amiloride(DB00594)	GGGGTGTCTCGCCTACACCCT	0.617													28	40					0	0	1	0	0	A	27440680	G	A	27440680	2	1	280	1	0	0	0	0	0	0	0	1	14764	1074	38	1		1	SLC9A1	1	27440680	Silent	SNP	G	TCGA-HT-7873-01B-11D-2395-08	8631507	27440680	221809941	2	28326											
CYP4B1	1580	broad.mit.edu	37	1	47279204	47279204	+	Silent	SNP	C	C	T	rs147120348		TCGA-HT-7873-01B-11D-2395-08	TCGA-HT-7873-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc65ab63-a507-4dbf-becf-93fc7d1bea3d	b7ec26c5-3d2d-4164-9de2-7202c49e4429	g.chr1:47279204C>T	ENST00000271153.4	+	5	582	c.546C>T	c.(544-546)tgC>tgT	p.C182C	CYP4B1_ENST00000371919.4_Silent_p.C167C|CYP4B1_ENST00000371923.4_Silent_p.C182C|CYP4B1_ENST00000452782.2_Silent_p.C19C			P13584	CP4B1_HUMAN	cytochrome P450, family 4, subfamily B, polypeptide 1	182					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	36	Acute lymphoblastic leukemia(166;0.155)					ACATCTTCTGCGATGTGGGTC	0.582													28	36					0	0	1	0	0	T	47279204	C	T	47279204	2	4	280	1	0	0	0	0	0	0	0	1	4208	776	27	1		1	CYP4B1	1	47279204	Silent	SNP	C	TCGA-HT-7873-01B-11D-2395-08	19838524	47279204	201971417	3	28327											
LPHN2	23266	broad.mit.edu	37	1	82434955	82434955	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7873-01B-11D-2395-08	TCGA-HT-7873-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc65ab63-a507-4dbf-becf-93fc7d1bea3d	b7ec26c5-3d2d-4164-9de2-7202c49e4429	g.chr1:82434955T>C	ENST00000370728.1	+	17	3250	c.2605T>C	c.(2605-2607)Ttc>Ctc	p.F869L	LPHN2_ENST00000319517.6_Missense_Mutation_p.F856L|LPHN2_ENST00000335786.5_Missense_Mutation_p.F869L|LPHN2_ENST00000359929.3_Missense_Mutation_p.F856L|LPHN2_ENST00000370727.1_Missense_Mutation_p.F869L|LPHN2_ENST00000370717.2_Missense_Mutation_p.F869L|LPHN2_ENST00000370725.1_Missense_Mutation_p.F869L|LPHN2_ENST00000271029.4_Missense_Mutation_p.F869L|LPHN2_ENST00000370723.1_Missense_Mutation_p.F856L|LPHN2_ENST00000394879.1_Missense_Mutation_p.F856L|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370713.1_Missense_Mutation_p.F856L|LPHN2_ENST00000370730.1_Missense_Mutation_p.F869L|LPHN2_ENST00000370715.1_Missense_Mutation_p.F856L|LPHN2_ENST00000370721.1_Missense_Mutation_p.F794L			O95490	LPHN2_HUMAN	latrophilin 2	869					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		CATCTTCACCTTCTGCTTTTT	0.393													47	120					0	0	1	0	0	C	82434955	T	C	82434955	3	2	280	1	0	0	0	0	1	0	0	0	8961	1609	56	3	2612	3	LPHN2	1	82434955	Missense_Mutation	SNP	T	TCGA-HT-7873-01B-11D-2395-08	35155751	82434955	166815666	4	28328											
ETV3	2117	broad.mit.edu	37	1	157105467	157105467	+	Missense_Mutation	SNP	T	T	A			TCGA-HT-7873-01B-11D-2395-08	TCGA-HT-7873-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc65ab63-a507-4dbf-becf-93fc7d1bea3d	b7ec26c5-3d2d-4164-9de2-7202c49e4429	g.chr1:157105467T>A	ENST00000368192.4	-	3	144	c.80A>T	c.(79-81)gAg>gTg	p.E27V	ETV3_ENST00000460850.1_5'UTR|ETV3_ENST00000326786.4_Missense_Mutation_p.E27V	NM_001145312.1	NP_001138784.1	P41162	ETV3_HUMAN	ets variant 3	27							sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)	9	Hepatocellular(266;0.158)	Prostate(1639;0.174)				TGGGGATGACTCTGTTTTGTA	0.527													44	70					0	0	1	0	0	A	157105467	T	A	157105467	3	1	280	1	0	0	0	0	1	0	0	0	5307	1551	54	5	1502	5	ETV3	1	157105467	Missense_Mutation	SNP	T	TCGA-HT-7873-01B-11D-2395-08	74670512	157105467	92145154	5	28329											
SIPA1L2	57568	broad.mit.edu	37	1	232538163	232538163	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7873-01B-11D-2395-08	TCGA-HT-7873-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc65ab63-a507-4dbf-becf-93fc7d1bea3d	b7ec26c5-3d2d-4164-9de2-7202c49e4429	g.chr1:232538163C>T	ENST00000366630.1	-	21	5355	c.4997G>A	c.(4996-4998)cGa>cAa	p.R1666Q	SIPA1L2_ENST00000262861.4_Missense_Mutation_p.R1666Q|SIPA1L2_ENST00000308942.4_Missense_Mutation_p.R722Q			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	1666					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				CTGGAGTTGTCGAAGAATTAA	0.393													20	24					0	0	1	0	0	T	232538163	C	T	232538163	3	4	280	1	0	0	0	0	1	0	0	0	14385	884	31	1	179	1	SIPA1L2	1	232538163	Missense_Mutation	SNP	C	TCGA-HT-7873-01B-11D-2395-08	75432696	232538163	16712458	6	28330											
TANC1	85461	broad.mit.edu	37	2	160050870	160050870	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7873-01B-11D-2395-08	TCGA-HT-7873-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc65ab63-a507-4dbf-becf-93fc7d1bea3d	b7ec26c5-3d2d-4164-9de2-7202c49e4429	g.chr2:160050870G>A	ENST00000263635.6	+	17	3082	c.2845G>A	c.(2845-2847)Gaa>Aaa	p.E949K	TANC1_ENST00000454300.1_Missense_Mutation_p.E843K	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	949						cell junction|postsynaptic density|postsynaptic membrane	binding			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						TGGCCACGAGGAAGTTGTCAC	0.552													25	45					0	0	1	0	0	A	160050870	G	A	160050870	3	1	280	1	0	0	0	0	1	0	0	0	15601	1175	41	2	2903	2	TANC1	2	160050870	Missense_Mutation	SNP	G	TCGA-HT-7873-01B-11D-2395-08		160050870	83148503	7	28331											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-HT-7873-01B-11D-2395-08	TCGA-HT-7873-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc65ab63-a507-4dbf-becf-93fc7d1bea3d	b7ec26c5-3d2d-4164-9de2-7202c49e4429	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								20	57					0	0	1	0	0	T	209113112	C	T	209113112	3	4	280	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HT-7873-01B-11D-2395-08	49062242	209113112	34086261	8	28332											
FEV	54738	broad.mit.edu	37	2	219846970	219846970	+	Missense_Mutation	SNP	G	G	C			TCGA-HT-7873-01B-11D-2395-08	TCGA-HT-7873-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc65ab63-a507-4dbf-becf-93fc7d1bea3d	b7ec26c5-3d2d-4164-9de2-7202c49e4429	g.chr2:219846970G>C	ENST00000295727.1	-	3	717	c.136C>G	c.(136-138)Cag>Gag	p.Q46E		NM_017521.2	NP_059991.1	Q99581	FEV_HUMAN	FEV (ETS oncogene family)	46					cell differentiation|nervous system development|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity		EWSR1/FEV(11)|FUS/FEV(2)	large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	4		Renal(207;0.0474)		Epithelial(149;9.77e-07)|all cancers(144;0.000167)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGCTGGATCTGTCCGCTGCCT	0.697			T	"EWSR1,  FUS"	Ewing sarcoma								8	6					0	0	1	0	0	C	219846970	G	C	219846970	3	2	280	1	0	0	0	0	1	0	0	0	5855	1386	48	5	584	5	FEV	2	219846970	Missense_Mutation	SNP	G	TCGA-HT-7873-01B-11D-2395-08	10733858	219846970	23352403	9	28333											
TRIP12	9320	broad.mit.edu	37	2	230724205	230724206	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HT-7873-01B-11D-2395-08	TCGA-HT-7873-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc65ab63-a507-4dbf-becf-93fc7d1bea3d	b7ec26c5-3d2d-4164-9de2-7202c49e4429	g.chr2:230724205_230724206insC	ENST00000283943.5	-	3	361_362	c.183_184insG	c.(181-186)gggcagfs	p.Q62fs	TRIP12_ENST00000409677.1_Frame_Shift_Ins_p.Q104fs|TRIP12_ENST00000543084.1_Frame_Shift_Ins_p.Q104fs|TRIP12_ENST00000389044.4_Frame_Shift_Ins_p.Q104fs|TRIP12_ENST00000389045.3_Intron	NM_001284214.1|NM_004238.1	NP_001271143.1|NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	62					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		TTAGGCACCTGCCCCGTTTTTT	0.45													7	266	---	---	---	---						C	230724206	-	C	230724205	7	5	280	1	0	1	1	0	0	0	0	0	16617	1328	46	0	5950	0	TRIP12	2	230724205	Frame_Shift_Ins	INS	-	TCGA-HT-7873-01B-11D-2395-08	10877235	230724205	12475168	10	28334											
SP140	11262	broad.mit.edu	37	2	231150502	231150502	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7873-01B-11D-2395-08	TCGA-HT-7873-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc65ab63-a507-4dbf-becf-93fc7d1bea3d	b7ec26c5-3d2d-4164-9de2-7202c49e4429	g.chr2:231150502G>A	ENST00000392045.3	+	17	1714	c.1600G>A	c.(1600-1602)Gaa>Aaa	p.E534K	SP140_ENST00000343805.6_Missense_Mutation_p.E474K|SP140_ENST00000486687.2_Missense_Mutation_p.E458K|SP140_ENST00000420434.3_Missense_Mutation_p.E507K|SP140_ENST00000350136.5_Missense_Mutation_p.E403K|SP140_ENST00000417495.3_Missense_Mutation_p.E420K	NM_007237.4	NP_009168.4	Q13342	LY10_HUMAN	SP140 nuclear body protein	534					defense response	cytoplasm|nuclear envelope|nucleolus|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		GGTCTCCAGTGAAAAGAAGGC	0.458													51	80					0	0	1	0	0	A	231150502	G	A	231150502	3	1	280	1	0	0	0	0	1	0	0	0	15016	1291	45	2	1783	2	SP140	2	231150502	Missense_Mutation	SNP	G	TCGA-HT-7873-01B-11D-2395-08	426297	231150502	12048871	11	28335											
CADM2	253559	broad.mit.edu	37	3	85984926	85984926	+	Nonsense_Mutation	SNP	C	C	G			TCGA-HT-7873-01B-11D-2395-08	TCGA-HT-7873-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc65ab63-a507-4dbf-becf-93fc7d1bea3d	b7ec26c5-3d2d-4164-9de2-7202c49e4429	g.chr3:85984926C>G	ENST00000383699.3	+	7	1337	c.710C>G	c.(709-711)tCa>tGa	p.S237*	CADM2_ENST00000405615.2_Nonsense_Mutation_p.S230*|CADM2_ENST00000407528.2_Nonsense_Mutation_p.S228*	NM_001167675.1|NM_001256504.1|NM_001256505.1	NP_001161147.1|NP_001243433.1|NP_001243434.1	Q8N3J6	CADM2_HUMAN	cell adhesion molecule 2	228	Ig-like C2-type 2.				adherens junction organization|cell junction assembly	integral to membrane|plasma membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4)	38		Lung NSC(201;0.0148)		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)		GATACACCATCAGTTAAGATT	0.328													56	83					0	0	1	0	0	G	85984926	C	G	85984926	4	3	280	1	0	0	0	0	0	1	0	0	2585	838	29	5	776	5	CADM2	3	85984926	Nonsense_Mutation	SNP	C	TCGA-HT-7873-01B-11D-2395-08		85984926	112037504	12	28336											
C7	730	broad.mit.edu	37	5	40955639	40955639	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7873-01B-11D-2395-08	TCGA-HT-7873-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc65ab63-a507-4dbf-becf-93fc7d1bea3d	b7ec26c5-3d2d-4164-9de2-7202c49e4429	g.chr5:40955639A>G	ENST00000313164.9	+	10	1603	c.1244A>G	c.(1243-1245)cAa>cGa	p.Q415R		NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	415	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex							Ovarian(839;0.0112)				AATCTTCCTCAAGTCATAAAA	0.413													4	90					0	0	1	0	0	G	40955639	A	G	40955639	3	3	280	1	0	0	0	0	1	0	0	0	2391	130	5	3	1282	3	C7	5	40955639	Missense_Mutation	SNP	A	TCGA-HT-7873-01B-11D-2395-08		40955639	139959621	13	28337											
ALDH7A1	501	broad.mit.edu	37	5	125885898	125885898	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7873-01B-11D-2395-08	TCGA-HT-7873-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc65ab63-a507-4dbf-becf-93fc7d1bea3d	b7ec26c5-3d2d-4164-9de2-7202c49e4429	g.chr5:125885898G>A	ENST00000409134.3	-	15	1624	c.1405C>T	c.(1405-1407)Cgc>Tgc	p.R469C	ALDH7A1_ENST00000553117.1_Missense_Mutation_p.R405C|ALDH7A1_ENST00000447989.2_Missense_Mutation_p.R432C	NM_001182.4|NM_001201377.1	NP_001173.2|NP_001188306.1	P49419	AL7A1_HUMAN	aldehyde dehydrogenase 7 family, member A1	469					cellular aldehyde metabolic process|lysine catabolic process|sensory perception of sound	cytosol|mitochondrial matrix|nucleus	aldehyde dehydrogenase (NAD) activity|betaine-aldehyde dehydrogenase activity|L-aminoadipate-semialdehyde dehydrogenase activity			endometrium(1)|kidney(4)|large_intestine(4)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	16		all_cancers(142;0.24)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.0584)|Kidney(363;0.0934)	Epithelial(69;0.0417)|OV - Ovarian serous cystadenocarcinoma(64;0.068)|all cancers(49;0.109)	NADH(DB00157)|Pyridoxine(DB00165)	CCAAGCCAGCGAAAGATTCTG	0.348													22	61					0	0	1	0	0	A	125885898	G	A	125885898	3	1	280	1	0	0	0	0	1	0	0	0	501	1058	37	1	230	1	ALDH7A1	5	125885898	Missense_Mutation	SNP	G	TCGA-HT-7873-01B-11D-2395-08	84930259	125885898	55029362	14	28338											
MRAP2	112609	broad.mit.edu	37	6	84799071	84799071	+	Silent	SNP	G	G	A			TCGA-HT-7873-01B-11D-2395-08	TCGA-HT-7873-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc65ab63-a507-4dbf-becf-93fc7d1bea3d	b7ec26c5-3d2d-4164-9de2-7202c49e4429	g.chr6:84799071G>A	ENST00000257776.4	+	4	624	c.489G>A	c.(487-489)aaG>aaA	p.K163K		NM_138409.2	NP_612418.2	Q96G30	MRAP2_HUMAN	melanocortin 2 receptor accessory protein 2	163					positive regulation of cAMP biosynthetic process|protein localization at cell surface	endoplasmic reticulum|plasma membrane	corticotropin hormone receptor binding|type 1 melanocortin receptor binding|type 3 melanocortin receptor binding|type 4 melanocortin receptor binding|type 5 melanocortin receptor binding			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(4)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	19						GGCTCATGAAGTTTGACATCC	0.493													44	58					0	0	1	0	0	A	84799071	G	A	84799071	2	1	280	1	0	0	0	0	0	0	0	1	9803	1020	36	2		2	MRAP2	6	84799071	Silent	SNP	G	TCGA-HT-7873-01B-11D-2395-08		84799071	86315996	15	28339											
ABCA13	154664	broad.mit.edu	37	7	48335325	48335325	+	Missense_Mutation	SNP	A	A	C			TCGA-HT-7873-01B-11D-2395-08	TCGA-HT-7873-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc65ab63-a507-4dbf-becf-93fc7d1bea3d	b7ec26c5-3d2d-4164-9de2-7202c49e4429	g.chr7:48335325A>C	ENST00000435803.1	+	21	9008	c.8984A>C	c.(8983-8985)aAt>aCt	p.N2995T		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	2995					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TCCTCGCCGAATCAGCTAAAT	0.393													43	93					0	0	1	0	0	C	48335325	A	C	48335325	3	2	280	1	0	0	0	0	1	0	0	0	31	101	4	4	8895	4	ABCA13	7	48335325	Missense_Mutation	SNP	A	TCGA-HT-7873-01B-11D-2395-08		48335325	110803338	16	28340											
TRPA1	8989	broad.mit.edu	37	8	72946552	72946552	+	Missense_Mutation	SNP	C	C	A			TCGA-HT-7873-01B-11D-2395-08	TCGA-HT-7873-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc65ab63-a507-4dbf-becf-93fc7d1bea3d	b7ec26c5-3d2d-4164-9de2-7202c49e4429	g.chr8:72946552C>A	ENST00000262209.4	-	22	2823	c.2616G>T	c.(2614-2616)agG>agT	p.R872S	TRPA1_ENST00000519720.1_5'UTR|RP11-383H13.1_ENST00000457356.4_Intron|RP11-383H13.1_ENST00000524152.1_Intron|RP11-383H13.1_ENST00000537896.1_Intron	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	872						integral to plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	CAACTGTAGACCTCAACAAAG	0.294													26	34					7.92952e-12	8.59032e-12	1	1	0	A	72946552	C	A	72946552	3	1	280	1	0	0	0	0	1	0	0	0	16638	506	18	5	767	5	TRPA1	8	72946552	Missense_Mutation	SNP	C	TCGA-HT-7873-01B-11D-2395-08		72946552	73417470	17	28341											
WWP1	11059	broad.mit.edu	37	8	87443690	87443690	+	Silent	SNP	A	A	C			TCGA-HT-7873-01B-11D-2395-08	TCGA-HT-7873-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc65ab63-a507-4dbf-becf-93fc7d1bea3d	b7ec26c5-3d2d-4164-9de2-7202c49e4429	g.chr8:87443690A>C	ENST00000517970.1	+	13	1750	c.1443A>C	c.(1441-1443)acA>acC	p.T481T	WWP1_ENST00000265428.4_Silent_p.T481T|WWP1_ENST00000349423.2_Silent_p.T263T|WWP1_ENST00000341922.2_Silent_p.T351T	NM_007013.3	NP_008944.1	Q9H0M0	WWP1_HUMAN	WW domain containing E3 ubiquitin protein ligase 1	481	WW 3.				central nervous system development|entry of virus into host cell|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|signal transduction	cytoplasm|nucleus|plasma membrane|ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			endometrium(3)|kidney(2)|large_intestine(9)|liver(4)|lung(10)|prostate(2)|urinary_tract(1)	31						ACACAAAAACAACCCAGTGGG	0.348													22	67					0	0	1	0	0	C	87443690	A	C	87443690	2	2	280	1	0	0	0	0	0	0	0	1	17475	117	5	5		5	WWP1	8	87443690	Silent	SNP	A	TCGA-HT-7873-01B-11D-2395-08	14497138	87443690	58920332	18	28342											
A1CF	29974	broad.mit.edu	37	10	52596001	52596002	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HT-7873-01B-11D-2395-08	TCGA-HT-7873-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc65ab63-a507-4dbf-becf-93fc7d1bea3d	b7ec26c5-3d2d-4164-9de2-7202c49e4429	g.chr10:52596001_52596002insT	ENST00000374001.2	-	5	575_576	c.436_437insA	c.(436-438)accfs	p.T146fs	A1CF_ENST00000282641.2_Frame_Shift_Ins_p.T146fs|A1CF_ENST00000373993.1_Frame_Shift_Ins_p.T146fs|A1CF_ENST00000373995.3_Frame_Shift_Ins_p.T154fs|A1CF_ENST00000395489.2_Frame_Shift_Ins_p.T139fs|A1CF_ENST00000373997.3_Frame_Shift_Ins_p.T146fs|A1CF_ENST00000395495.1_Frame_Shift_Ins_p.T146fs			Q9NQ94	A1CF_HUMAN	APOBEC1 complementation factor		RRM 2.				cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						TCTCTTTTTGGTTTTTGGGATG	0.446													39	103	---	---	---	---						T	52596002	-	T	52596001	7	5	280	1	0	1	1	0	0	0	0	0	2	1261	44	0	1379	0	A1CF	10	52596001	Frame_Shift_Ins	INS	-	TCGA-HT-7873-01B-11D-2395-08		52596001	82938746	19	28343											
PAK1	5058	broad.mit.edu	37	11	77069990	77069992	+	In_Frame_Del	DEL	CAT	CAT	-			TCGA-HT-7873-01B-11D-2395-08	TCGA-HT-7873-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc65ab63-a507-4dbf-becf-93fc7d1bea3d	b7ec26c5-3d2d-4164-9de2-7202c49e4429	g.chr11:77069990_77069992delCAT	ENST00000356341.3	-	6	1079_1081	c.548_550delATG	c.(547-552)gatgct>gct	p.D183del	PAK1_ENST00000528203.1_In_Frame_Del_p.D85del|PAK1_ENST00000278568.4_In_Frame_Del_p.D183del|PAK1_ENST00000530617.1_In_Frame_Del_p.D183del|PAK1_ENST00000525542.1_5'UTR	NM_002576.4	NP_002567.3	Q13153	PAK1_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 1	183	Interaction with CRIPAK.				apoptosis|axon guidance|cytoskeleton organization|ER-nucleus signaling pathway|positive regulation of JUN kinase activity|positive regulation of peptidyl-serine phosphorylation|protein autophosphorylation|T cell costimulation|T cell receptor signaling pathway	cytosol|focal adhesion|Golgi apparatus	ATP binding|collagen binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(13)|skin(2)|stomach(1)	29	all_cancers(14;1.75e-18)					GGTGGGGTAGcatcatcatcatc	0.478													7	170	---	---	---	---						-	77069992	CAT	-	77069990	7	5	280	1	0	1	0	1	0	0	0	0	11446	710	25	0	1180	0	PAK1	11	77069990	In_Frame_Del	DEL	CAT	TCGA-HT-7873-01B-11D-2395-08		77069990	57936526	20	28344											
MAB21L1	4081	broad.mit.edu	37	13	36049234	36049234	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-7873-01B-11D-2395-08	TCGA-HT-7873-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc65ab63-a507-4dbf-becf-93fc7d1bea3d	b7ec26c5-3d2d-4164-9de2-7202c49e4429	g.chr13:36049234C>G	ENST00000379919.4	-	1	1598	c.1042G>C	c.(1042-1044)Gag>Cag	p.E348Q	NBEA_ENST00000310336.4_Intron|NBEA_ENST00000400445.3_Intron|NBEA_ENST00000379939.2_Intron|NBEA_ENST00000540320.1_Intron	NM_005584.4	NP_005575.1	Q13394	MB211_HUMAN	mab-21-like 1 (C. elegans)	348					anatomical structure morphogenesis	nucleus				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	20		Breast(139;0.014)|Lung SC(185;0.051)|Prostate(109;0.202)		all cancers(112;9.63e-08)|Epithelial(112;1.37e-06)|BRCA - Breast invasive adenocarcinoma(63;0.000659)|OV - Ovarian serous cystadenocarcinoma(117;0.00372)|GBM - Glioblastoma multiforme(144;0.115)		GTCAGGATCTCTCTTGCCAGT	0.433													37	84					0	0	1	0	0	G	36049234	C	G	36049234	3	3	280	1	0	0	0	0	1	0	0	0	9187	922	32	4	41	4	MAB21L1	13	36049234	Missense_Mutation	SNP	C	TCGA-HT-7873-01B-11D-2395-08		36049234	79120644	21	28345											
POTEG	404785	broad.mit.edu	37	14	19562088	19562088	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7873-01B-11D-2395-08	TCGA-HT-7873-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc65ab63-a507-4dbf-becf-93fc7d1bea3d	b7ec26c5-3d2d-4164-9de2-7202c49e4429	g.chr14:19562088A>G	ENST00000409832.3	+	4	957	c.905A>G	c.(904-906)gAt>gGt	p.D302G		NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	302										cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						AATGCACTGGATAGATATGGA	0.328													17	3					0	0	1	0	0	G	19562088	A	G	19562088	3	3	280	1	0	0	0	0	1	0	0	0	12313	333	12	3	919	3	POTEG	14	19562088	Missense_Mutation	SNP	A	TCGA-HT-7873-01B-11D-2395-08		19562088	87787452	22	28346											
ADCY4	196883	broad.mit.edu	37	14	24787720	24787720	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7873-01B-11D-2395-08	TCGA-HT-7873-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc65ab63-a507-4dbf-becf-93fc7d1bea3d	b7ec26c5-3d2d-4164-9de2-7202c49e4429	g.chr14:24787720G>A	ENST00000310677.4	-	26	3249	c.3136C>T	c.(3136-3138)Cgg>Tgg	p.R1046W	ADCY4_ENST00000418030.2_Missense_Mutation_p.R1046W|ADCY4_ENST00000554068.2_Missense_Mutation_p.R1046W	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	1046					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding|protein binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(265;0.0192)		ATGACACCCCGGCTGTAGCAG	0.562													27	59					0	0	1	0	0	A	24787720	G	A	24787720	3	1	280	1	0	0	0	0	1	0	0	0	295	1115	39	1	101	1	ADCY4	14	24787720	Missense_Mutation	SNP	G	TCGA-HT-7873-01B-11D-2395-08	5225632	24787720	82561820	23	28347											
ALKBH1	8846	broad.mit.edu	37	14	78161070	78161102	+	Splice_Site	DEL	ACAAGACTTACCTCAGGAACTCTTTGCTCTGTT	ACAAGACTTACCTCAGGAACTCTTTGCTCTGTT	-			TCGA-HT-7873-01B-11D-2395-08	TCGA-HT-7873-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc65ab63-a507-4dbf-becf-93fc7d1bea3d	b7ec26c5-3d2d-4164-9de2-7202c49e4429	g.chr14:78161070_78161102delACAAGACTTACCTCAGGAACTCTTTGCTCTGTT	ENST00000216489.3	-	3	449_471	c.434_456delAACAGAGCAAAGAGTTCCTGAGGTAAGTCTTGT	c.(433-456)gaacagagcaaagagttcctgagg>g	p.EQSKEFLR145del	ALKBH1_ENST00000554097.1_5'UTR	NM_006020.2	NP_006011.2	Q13686	ALKB1_HUMAN	alkB, alkylation repair homolog 1 (E. coli)	145					DNA dealkylation involved in DNA repair|DNA demethylation|oxidative demethylation|RNA repair	mitochondrion	DNA-(apurinic or apyrimidinic site) lyase activity|ferrous iron binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			endometrium(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	9			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)		ATTCTGATTGACAAGACTTACCTCAGGAACTCTTTGCTCTGTTCCCACAGATC	0.403													8	142	---	---	---	---						-	78161102	ACAAGACTTACCTCAGGAACTCTTTGCTCTGTT	-	78161070	8	5	280	1	0	1	0	1	0	0	1	0	522	290	10	0		0	ALKBH1	14	78161070	Splice_Site	DEL	ACAAGACTTACCTCAGGAACTCTTTGCTCTGTT	TCGA-HT-7873-01B-11D-2395-08	53373350	78161070	29188470	24	28348											
MYO9A	4649	broad.mit.edu	37	15	72172772	72172772	+	Silent	SNP	G	G	A			TCGA-HT-7873-01B-11D-2395-08	TCGA-HT-7873-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc65ab63-a507-4dbf-becf-93fc7d1bea3d	b7ec26c5-3d2d-4164-9de2-7202c49e4429	g.chr15:72172772G>A	ENST00000356056.5	-	29	5998	c.5526C>T	c.(5524-5526)aaC>aaT	p.N1842N	MYO9A_ENST00000444904.1_Silent_p.N1823N|MYO9A_ENST00000424560.1_Silent_p.N1913N|MYO9A_ENST00000564571.1_Silent_p.N1842N	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	1842	Tail.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						CCAAAGCCACGTTGCTAATCT	0.438													45	100					0	0	1	0	0	A	72172772	G	A	72172772	2	1	280	1	0	0	0	0	0	0	0	1	10132	1136	40	1		1	MYO9A	15	72172772	Silent	SNP	G	TCGA-HT-7873-01B-11D-2395-08		72172772	30358620	25	28349											
ALDH1A3	220	broad.mit.edu	37	15	101425495	101425495	+	Silent	SNP	C	C	T	rs58142816	byFrequency	TCGA-HT-7873-01B-11D-2395-08	TCGA-HT-7873-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc65ab63-a507-4dbf-becf-93fc7d1bea3d	b7ec26c5-3d2d-4164-9de2-7202c49e4429	g.chr15:101425495C>T	ENST00000329841.5	+	2	655	c.123C>T	c.(121-123)caC>caT	p.H41H	ALDH1A3_ENST00000346623.6_Silent_p.H41H|ALDH1A3_ENST00000560555.1_3'UTR|RP11-66B24.8_ENST00000558568.1_lincRNA	NM_000693.2	NP_000684.2	P47895	AL1A3_HUMAN	aldehyde dehydrogenase 1 family, member A3	41					retinal metabolic process	cytoplasm	aldehyde dehydrogenase|protein homodimerization activity			NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(7)|lung(9)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	27	Lung NSC(78;0.00144)|all_lung(78;0.0018)|Melanoma(26;0.00852)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103)		NADH(DB00157)|Vitamin A(DB00162)	ATGAATGGCACGAATCCAAGA	0.348													18	36					0	0	1	0	0	T	101425495	C	T	101425495	2	4	280	1	0	0	0	0	0	0	0	1	489	535	19	1		1	ALDH1A3	15	101425495	Silent	SNP	C	TCGA-HT-7873-01B-11D-2395-08	29252723	101425495	1105897	26	28350											
SMG1	23049	broad.mit.edu	37	16	18937330	18937330	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7873-01B-11D-2395-08	TCGA-HT-7873-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc65ab63-a507-4dbf-becf-93fc7d1bea3d	b7ec26c5-3d2d-4164-9de2-7202c49e4429	g.chr16:18937330T>C	ENST00000446231.2	-	1	446	c.34A>G	c.(34-36)Agc>Ggc	p.S12G	SMG1_ENST00000567737.1_5'UTR|SMG1_ENST00000389467.3_Missense_Mutation_p.S12G			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	12	Interaction with SMG8 and SMG9.				DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						ccgccgccgctgcTCAGCCGA	0.736													3	13					0	0	1	0	0	C	18937330	T	C	18937330	3	2	280	1	0	0	0	0	1	0	0	0	14849	1580	55	3	11203	3	SMG1	16	18937330	Missense_Mutation	SNP	T	TCGA-HT-7873-01B-11D-2395-08		18937330	71417423	27	28351											
NFAT5	10725	broad.mit.edu	37	16	69726213	69726213	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7873-01B-11D-2395-08	TCGA-HT-7873-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc65ab63-a507-4dbf-becf-93fc7d1bea3d	b7ec26c5-3d2d-4164-9de2-7202c49e4429	g.chr16:69726213G>A	ENST00000349945.1	+	14	3755	c.2203G>A	c.(2203-2205)Gtt>Att	p.V735I	NFAT5_ENST00000393742.2_Missense_Mutation_p.V735I|NFAT5_ENST00000566899.1_Missense_Mutation_p.V735I|NFAT5_ENST00000432919.1_Missense_Mutation_p.V829I|NFAT5_ENST00000567239.1_Missense_Mutation_p.V828I|NFAT5_ENST00000354436.2_Missense_Mutation_p.V811I	NM_138714.3	NP_619728.2	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5, tonicity-responsive	811					excretion|signal transduction|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						GTTATCTTCAGTTTTATTTTC	0.448													44	86					0	0	1	0	0	A	69726213	G	A	69726213	3	1	280	1	0	0	0	0	1	0	0	0	10407	1029	36	2	2535	2	NFAT5	16	69726213	Missense_Mutation	SNP	G	TCGA-HT-7873-01B-11D-2395-08	50788883	69726213	20628540	28	28352											
TP53	7157	broad.mit.edu	37	17	7573996	7574003	+	Frame_Shift_Del	DEL	AGCTCTCG	AGCTCTCG	-	rs121912662		TCGA-HT-7873-01B-11D-2395-08	TCGA-HT-7873-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc65ab63-a507-4dbf-becf-93fc7d1bea3d	b7ec26c5-3d2d-4164-9de2-7202c49e4429	g.chr17:7573996_7574003delAGCTCTCG	ENST00000269305.4	-	10	1213_1220	c.1024_1031delCGAGAGCT	c.(1024-1032)cgagagctgfs	p.REL342fs	TP53_ENST00000359597.4_Intron|TP53_ENST00000445888.2_Frame_Shift_Del_p.REL342fs|TP53_ENST00000420246.2_3'UTR|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_3'UTR	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	342	Interaction with CARM1.|Interaction with HIPK1 (By similarity).|Interaction with HIPK2.|Oligomerization.		R -> L (in a sporadic cancer; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (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.R342*(70)|p.R342fs*3(9)|p.0?(8)|p.E343*(8)|p.R342P(3)|p.L344R(3)|p.L344fs*23(2)|p.R342Q(2)|p.L344P(2)|p.L344fs*22(1)|p.?(1)|p.R342_N345delRELN(1)|p.E343fs*3(1)|p.I332fs*5(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)		GGCCTCATTCAGCTCTCGGAACATCTCG	0.562		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)			16	10	---	---	---	---						-	7574003	AGCTCTCG	-	7573996	7	5	280	1	0	1	0	1	0	0	0	0	16442	188	7	0	158	0	TP53	17	7573996	Frame_Shift_Del	DEL	AGCTCTCG	TCGA-HT-7873-01B-11D-2395-08		7573996	73621214	29	28353											
LPO	4025	broad.mit.edu	37	17	56342147	56342147	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7873-01B-11D-2395-08	TCGA-HT-7873-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc65ab63-a507-4dbf-becf-93fc7d1bea3d	b7ec26c5-3d2d-4164-9de2-7202c49e4429	g.chr17:56342147C>T	ENST00000262290.4	+	10	1647	c.1331C>T	c.(1330-1332)cCa>cTa	p.P444L	LPO_ENST00000421678.2_Missense_Mutation_p.P361L|LPO_ENST00000543544.1_Missense_Mutation_p.P385L|LPO_ENST00000582328.1_Missense_Mutation_p.P361L	NM_006151.2	NP_006142.1	P22079	PERL_HUMAN	lactoperoxidase	444					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30						TGGATACCCCCATATCAAGGC	0.478													35	47					0	0	1	0	0	T	56342147	C	T	56342147	3	4	280	1	0	0	0	0	1	0	0	0	8967	594	21	2	1365	2	LPO	17	56342147	Missense_Mutation	SNP	C	TCGA-HT-7873-01B-11D-2395-08	48768151	56342147	24853063	30	28354											
PCSK4	54760	broad.mit.edu	37	19	1481915	1481915	+	Missense_Mutation	SNP	C	C	T	rs145279692		TCGA-HT-7873-01B-11D-2395-08	TCGA-HT-7873-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc65ab63-a507-4dbf-becf-93fc7d1bea3d	b7ec26c5-3d2d-4164-9de2-7202c49e4429	g.chr19:1481915C>T	ENST00000300954.5	-	15	2172	c.2111G>A	c.(2110-2112)cGc>cAc	p.R704H		NM_017573.3	NP_060043.2	Q6UW60	PCSK4_HUMAN	proprotein convertase subtilisin/kexin type 4	704					proteolysis	integral to membrane	serine-type endopeptidase activity			cervix(2)|endometrium(2)|kidney(1)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	15		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|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)		GGCTGGGCAGCGGTGGTGGGG	0.711													8	16					0	0	1	0	0	T	1481915	C	T	1481915	3	4	280	1	0	0	0	0	1	0	0	0	11649	768	27	1	160	1	PCSK4	19	1481915	Missense_Mutation	SNP	C	TCGA-HT-7873-01B-11D-2395-08		1481915	57647068	31	28355											
ZNF256	10172	broad.mit.edu	37	19	58453810	58453810	+	Silent	SNP	T	T	C			TCGA-HT-7873-01B-11D-2395-08	TCGA-HT-7873-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc65ab63-a507-4dbf-becf-93fc7d1bea3d	b7ec26c5-3d2d-4164-9de2-7202c49e4429	g.chr19:58453810T>C	ENST00000282308.3	-	3	562	c.366A>G	c.(364-366)gcA>gcG	p.A122A	ZNF256_ENST00000598928.1_3'UTR	NM_005773.2	NP_005764.2	Q9Y2P7	ZN256_HUMAN	zinc finger protein 256	122					multicellular organismal development|negative regulation of transcription, DNA-dependent	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0155)		GTTTCCTACATGCCCCGTCTG	0.458													50	93					0	0	1	0	0	C	58453810	T	C	58453810	2	2	280	1	0	0	0	0	0	0	0	1	17857	1451	51	3		3	ZNF256	19	58453810	Silent	SNP	T	TCGA-HT-7873-01B-11D-2395-08	56971895	58453810	675173	32	28356											
SSTR4	6754	broad.mit.edu	37	20	23017075	23017075	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7873-01B-11D-2395-08	TCGA-HT-7873-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc65ab63-a507-4dbf-becf-93fc7d1bea3d	b7ec26c5-3d2d-4164-9de2-7202c49e4429	g.chr20:23017075C>T	ENST00000255008.3	+	1	1019	c.955C>T	c.(955-957)Cgc>Tgc	p.R319C	RP4-753D10.3_ENST00000440921.1_RNA	NM_001052.2	NP_001043.2	P31391	SSR4_HUMAN	somatostatin receptor 4	319					G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	32	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)					CGACAACTTCCGCCGATTCTT	0.587													44	52					0	0	1	0	0	T	23017075	C	T	23017075	3	4	280	1	0	0	0	0	1	0	0	0	15256	652	23	1	957	1	SSTR4	20	23017075	Missense_Mutation	SNP	C	TCGA-HT-7873-01B-11D-2395-08		23017075	40008445	33	28357											
POTEH	23784	broad.mit.edu	37	22	16279207	16279207	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7873-01B-11D-2395-08	TCGA-HT-7873-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc65ab63-a507-4dbf-becf-93fc7d1bea3d	b7ec26c5-3d2d-4164-9de2-7202c49e4429	g.chr22:16279207T>C	ENST00000343518.6	-	4	1067	c.1016A>G	c.(1015-1017)gAt>gGt	p.D339G		NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H	339										NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						TCCATATCTATCCAGTGCATT	0.318													15	258					0	0	1	0	0	C	16279207	T	C	16279207	3	2	280	1	0	0	0	0	1	0	0	0	12314	1435	50	3	649	3	POTEH	22	16279207	Missense_Mutation	SNP	T	TCGA-HT-7873-01B-11D-2395-08		16279207	35025359	34	28358											
ATRX	546	broad.mit.edu	37	X	76938029	76938029	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HT-7873-01B-11D-2395-08	TCGA-HT-7873-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc65ab63-a507-4dbf-becf-93fc7d1bea3d	b7ec26c5-3d2d-4164-9de2-7202c49e4429	g.chrX:76938029delG	ENST00000373344.5	-	9	2933	c.2719delC	c.(2719-2721)cgafs	p.R907fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.R869fs	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	907					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)|p.R907*(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)	TTAGGAAGTCGATCTCTTAAT	0.418			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						154	38	---	---	---	---						-	76938029	G	-	76938029	7	5	280	1	0	1	0	1	0	0	0	0	1206	1066	37	0	4867	0	ATRX	23	76938029	Frame_Shift_Del	DEL	G	TCGA-HT-7873-01B-11D-2395-08		76938029	78332531	35	28359											
SPANXD	64648	broad.mit.edu	37	X	140785749	140785749	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7873-01B-11D-2395-08	TCGA-HT-7873-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc65ab63-a507-4dbf-becf-93fc7d1bea3d	b7ec26c5-3d2d-4164-9de2-7202c49e4429	g.chrX:140785749C>T	ENST00000370515.3	-	2	500	c.167G>A	c.(166-168)aGg>aAg	p.R56K		NM_032417.2|NM_145665.1	NP_115793.1|NP_663698.1			SPANX family, member D											breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	9	Acute lymphoblastic leukemia(192;7.65e-05)					AAAGTTCCTCCTGTAGCGAAC	0.488													6	169					0	0	1	0	0	T	140785749	C	T	140785749	3	4	280	1	0	0	0	0	1	0	0	0	15044	681	24	2	130	2	SPANXD	23	140785749	Missense_Mutation	SNP	C	TCGA-HT-7873-01B-11D-2395-08	63847720	140785749	14484811	36	28360											
CLCA2	9635	broad.mit.edu	37	1	86919122	86919122	+	Silent	SNP	C	C	T			TCGA-HT-7874-01A-11D-2395-08	TCGA-HT-7874-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c6a82e9-3ef8-4f1f-89ba-b936f1ebe17b	159201aa-9f74-4b4a-ba23-b6863a698317	g.chr1:86919122C>T	ENST00000370565.4	+	13	2388	c.2226C>T	c.(2224-2226)agC>agT	p.S742S	CLCA2_ENST00000498802.1_3'UTR	NM_006536.5	NP_006527.1	Q9UQC9	CLCA2_HUMAN	chloride channel accessory 2	742					cell adhesion	basal plasma membrane|cell junction|extracellular region|integral to plasma membrane	chloride channel activity			NS(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	42		Lung NSC(277;0.238)		all cancers(265;0.0233)|Epithelial(280;0.0452)		GGGGCTTTAGCCGAGTCAGCT	0.463													4	51					0	0	1	0	0	T	86919122	C	T	86919122	2	4	281	1	0	0	0	0	0	0	0	1	3481	738	26	2		2	CLCA2	1	86919122	Silent	SNP	C	TCGA-HT-7874-01A-11D-2395-08		86919122	162331499	1	28361											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-HT-7874-01A-11D-2395-08	TCGA-HT-7874-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c6a82e9-3ef8-4f1f-89ba-b936f1ebe17b	159201aa-9f74-4b4a-ba23-b6863a698317	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								15	76					0	0	1	0	0	T	209113112	C	T	209113112	3	4	281	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HT-7874-01A-11D-2395-08		209113112	34086261	2	28362											
PLSCR2	57047	broad.mit.edu	37	3	146173222	146173222	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7874-01A-11D-2395-08	TCGA-HT-7874-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c6a82e9-3ef8-4f1f-89ba-b936f1ebe17b	159201aa-9f74-4b4a-ba23-b6863a698317	g.chr3:146173222T>C	ENST00000497985.1	-	6	783	c.344A>G	c.(343-345)aAc>aGc	p.N115S	PLSCR2_ENST00000336685.2_Missense_Mutation_p.N42S	NM_001199978.1	NP_001186907.1	Q9NRY7	PLS2_HUMAN	phospholipid scramblase 2	42					phospholipid scrambling	integral to membrane|plasma membrane	calcium ion binding|phospholipid scramblase activity			endometrium(2)|large_intestine(5)|lung(7)|stomach(1)	15						TTCATACATGTTACTACTTTC	0.323													5	96					0	0	1	0	0	C	146173222	T	C	146173222	3	2	281	1	0	0	0	0	1	0	0	0	12158	1725	60	3	565	3	PLSCR2	3	146173222	Missense_Mutation	SNP	T	TCGA-HT-7874-01A-11D-2395-08		146173222	51849208	3	28363											
PIK3CA	5290	broad.mit.edu	37	3	178952073	178952073	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7874-01A-11D-2395-08	TCGA-HT-7874-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c6a82e9-3ef8-4f1f-89ba-b936f1ebe17b	159201aa-9f74-4b4a-ba23-b6863a698317	g.chr3:178952073T>C	ENST00000263967.3	+	21	3285	c.3128T>C	c.(3127-3129)aTg>aCg	p.M1043T		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1043	PI3K/PI4K.		M -> I (in cancer; shows an increase in lipid kinase activity).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.M1043T(4)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			ATGAAACAAATGAATGATGCA	0.368		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			18	84					0	0	1	0	0	C	178952073	T	C	178952073	3	2	281	1	0	0	0	0	1	0	0	0	11961	1464	51	3	3206	3	PIK3CA	3	178952073	Missense_Mutation	SNP	T	TCGA-HT-7874-01A-11D-2395-08	32778851	178952073	19070357	4	28364											
KDR	3791	broad.mit.edu	37	4	55960997	55960997	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-7874-01A-11D-2395-08	TCGA-HT-7874-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c6a82e9-3ef8-4f1f-89ba-b936f1ebe17b	159201aa-9f74-4b4a-ba23-b6863a698317	g.chr4:55960997C>G	ENST00000263923.4	-	21	3238	c.2943G>C	c.(2941-2943)aaG>aaC	p.K981N		NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	981	Protein kinase.				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	CACTGAGGGACTTCTCCTCCA	0.522			Mis		"NSCLC, angiosarcoma"					TSP Lung(20;0.16)			26	123					0	0	1	0	0	G	55960997	C	G	55960997	3	3	281	1	0	0	0	0	1	0	0	0	8182	564	20	4	1167	4	KDR	4	55960997	Missense_Mutation	SNP	C	TCGA-HT-7874-01A-11D-2395-08		55960997	135193279	5	28365											
UGT2B11	10720	broad.mit.edu	37	4	70070265	70070265	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7874-01A-11D-2395-08	TCGA-HT-7874-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c6a82e9-3ef8-4f1f-89ba-b936f1ebe17b	159201aa-9f74-4b4a-ba23-b6863a698317	g.chr4:70070265T>C	ENST00000446444.1	-	5	1201	c.1193A>G	c.(1192-1194)gAt>gGt	p.D398G	RP11-704M14.1_ENST00000505646.1_RNA|RP11-704M14.1_ENST00000504301.1_RNA	NM_001073.1	NP_001064.1	O75310	UDB11_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B11	398					estrogen metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	42						ATCAGGTTGATCAAAAAACAA	0.448													14	211					0	0	1	0	0	C	70070265	T	C	70070265	3	2	281	1	0	0	0	0	1	0	0	0	17017	1435	50	3	404	3	UGT2B11	4	70070265	Missense_Mutation	SNP	T	TCGA-HT-7874-01A-11D-2395-08	14109268	70070265	121084011	6	28366											
GAR1	54433	broad.mit.edu	37	4	110745576	110745576	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7874-01A-11D-2395-08	TCGA-HT-7874-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c6a82e9-3ef8-4f1f-89ba-b936f1ebe17b	159201aa-9f74-4b4a-ba23-b6863a698317	g.chr4:110745576A>G	ENST00000226796.6	+	7	907	c.643A>G	c.(643-645)Aga>Gga	p.R215G	GAR1_ENST00000394631.3_Missense_Mutation_p.R215G	NM_018983.3	NP_061856.1	Q9NY12	GAR1_HUMAN	GAR1 ribonucleoprotein	215	RGG-box 2.				rRNA processing|snRNA pseudouridine synthesis	box H/ACA snoRNP complex|Cajal body	cation channel activity|pseudouridine synthase activity|snoRNA binding			kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	9						TTAATCAGGGAGAGGACATTA	0.328													4	65					0	0	1	0	0	G	110745576	A	G	110745576	3	3	281	1	0	0	0	0	1	0	0	0	6280	296	11	3	665	3	GAR1	4	110745576	Missense_Mutation	SNP	A	TCGA-HT-7874-01A-11D-2395-08	40675311	110745576	80408700	7	28367											
HNRNPA0	10949	broad.mit.edu	37	5	137089402	137089402	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-7874-01A-11D-2395-08	TCGA-HT-7874-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c6a82e9-3ef8-4f1f-89ba-b936f1ebe17b	159201aa-9f74-4b4a-ba23-b6863a698317	g.chr5:137089402G>T	ENST00000314940.4	-	1	637	c.354C>A	c.(352-354)ttC>ttA	p.F118L		NM_006805.3	NP_006796.1	Q13151	ROA0_HUMAN	heterogeneous nuclear ribonucleoprotein A0	118	RRM 2.				nuclear mRNA splicing, via spliceosome	heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|RNA binding			large_intestine(1)|lung(2)|skin(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CAAACTGCGAGAAGTGCTCGA	0.587													31	71					1.06801e-11	1.17272e-11	1	1	0	T	137089402	G	T	137089402	3	4	281	1	0	0	0	0	1	0	0	0	7297	933	33	4	567	4	HNRNPA0	5	137089402	Missense_Mutation	SNP	G	TCGA-HT-7874-01A-11D-2395-08		137089402	43825858	8	28368											
PCDHA3	56145	broad.mit.edu	37	5	140181778	140181778	+	Missense_Mutation	SNP	T	T	G	rs140096953	by1000genomes	TCGA-HT-7874-01A-11D-2395-08	TCGA-HT-7874-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c6a82e9-3ef8-4f1f-89ba-b936f1ebe17b	159201aa-9f74-4b4a-ba23-b6863a698317	g.chr5:140181778T>G	ENST00000522353.2	+	1	996	c.996T>G	c.(994-996)gaT>gaG	p.D332E	PCDHA3_ENST00000532566.2_Missense_Mutation_p.D332E|PCDHA2_ENST00000520672.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018906.2	NP_061729.1														NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAATGTCAGATCACTGCACAG	0.378													21	99					0	0	1	0	0	G	140181778	T	G	140181778	3	3	281	1	0	0	0	0	1	0	0	0	11572	1432	50	4	998	4	PCDHA3	5	140181778	Missense_Mutation	SNP	T	TCGA-HT-7874-01A-11D-2395-08	3092376	140181778	40733482	9	28369											
ARAP3	64411	broad.mit.edu	37	5	141035828	141035828	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7874-01A-11D-2395-08	TCGA-HT-7874-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c6a82e9-3ef8-4f1f-89ba-b936f1ebe17b	159201aa-9f74-4b4a-ba23-b6863a698317	g.chr5:141035828G>A	ENST00000239440.4	-	28	3870	c.3805C>T	c.(3805-3807)Cgg>Tgg	p.R1269W	ARAP3_ENST00000508305.1_Missense_Mutation_p.R1100W|ARAP3_ENST00000512390.1_5'UTR|ARAP3_ENST00000513878.1_Missense_Mutation_p.R931W	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	1269	PH 3.				cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						GGCCACTCCCGTTCTGGTTTA	0.522													7	111					0	0	1	0	0	A	141035828	G	A	141035828	3	1	281	1	0	0	0	0	1	0	0	0	837	1144	40	1	853	1	ARAP3	5	141035828	Missense_Mutation	SNP	G	TCGA-HT-7874-01A-11D-2395-08	854050	141035828	39879432	10	28370											
HFE	3077	broad.mit.edu	37	6	26094421	26094421	+	Silent	SNP	C	C	T			TCGA-HT-7874-01A-11D-2395-08	TCGA-HT-7874-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c6a82e9-3ef8-4f1f-89ba-b936f1ebe17b	159201aa-9f74-4b4a-ba23-b6863a698317	g.chr6:26094421C>T	ENST00000357618.5	+	6	1136	c.1014C>T	c.(1012-1014)gcC>gcT	p.A338A	HFE_ENST00000461397.1_Silent_p.A324A|HFE_ENST00000336625.8_Silent_p.A232A|HFE_ENST00000309234.6_Intron|HFE_ENST00000317896.7_Silent_p.A246A|HFE_ENST00000349999.4_Silent_p.A250A|HFE_ENST00000397022.3_Silent_p.A315A|HFE_ENST00000488199.1_Silent_p.A236A|HFE_ENST00000352392.4_Silent_p.A66A|HFE_ENST00000353147.5_Silent_p.A158A|HFE_ENST00000470149.1_Silent_p.A335A	NM_000410.3|NM_139006.2	NP_000401.1|NP_620575.1	Q30201	HFE_HUMAN	hemochromatosis	338					antigen processing and presentation of peptide antigen via MHC class I|cellular iron ion homeostasis|immune response|iron ion transport|protein complex assembly|receptor-mediated endocytosis	apical part of cell|basal part of cell|cytoplasmic vesicle|early endosome|integral to plasma membrane|MHC class I protein complex|perinuclear region of cytoplasm|recycling endosome	protein binding			endometrium(3)|large_intestine(3)|liver(2)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CAGGAGGAGCCATGGGGCACT	0.502									Hemochromatosis				10	50					0	0	1	0	0	T	26094421	C	T	26094421	2	4	281	1	0	0	0	0	0	0	0	1	7122	581	21	2		2	HFE	6	26094421	Silent	SNP	C	TCGA-HT-7874-01A-11D-2395-08		26094421	145020646	11	28371											
IP6K3	117283	broad.mit.edu	37	6	33690730	33690730	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-7874-01A-11D-2395-08	TCGA-HT-7874-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c6a82e9-3ef8-4f1f-89ba-b936f1ebe17b	159201aa-9f74-4b4a-ba23-b6863a698317	g.chr6:33690730C>G	ENST00000451316.1	-	7	1535	c.1000G>C	c.(1000-1002)Gaa>Caa	p.E334Q	IP6K3_ENST00000293756.4_Missense_Mutation_p.E334Q	NM_001142883.1	NP_001136355.1	Q96PC2	IP6K3_HUMAN	inositol hexakisphosphate kinase 3	334					inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|protein phosphorylation	cytoplasm	ATP binding|inositol hexakisphosphate 5-kinase activity|inositol hexakisphosphate 6-kinase activity|inositol trisphosphate 3-kinase activity			skin(1)	1						TCTGGTGGTTCCTGCCCATCA	0.602													12	71					0	0	1	0	0	G	33690730	C	G	33690730	3	3	281	1	0	0	0	0	1	0	0	0	7834	864	30	5	236	5	IP6K3	6	33690730	Missense_Mutation	SNP	C	TCGA-HT-7874-01A-11D-2395-08	7596309	33690730	137424337	12	28372											
REPS1	85021	broad.mit.edu	37	6	139229869	139229869	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-7874-01A-11D-2395-08	TCGA-HT-7874-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c6a82e9-3ef8-4f1f-89ba-b936f1ebe17b	159201aa-9f74-4b4a-ba23-b6863a698317	g.chr6:139229869C>G	ENST00000450536.2	-	18	2726	c.2152G>C	c.(2152-2154)Gat>Cat	p.D718H	REPS1_ENST00000258062.5_Missense_Mutation_p.D717H|REPS1_ENST00000415951.2_Missense_Mutation_p.D659H|REPS1_ENST00000367663.4_Missense_Mutation_p.D691H|REPS1_ENST00000409812.2_Missense_Mutation_p.D627H			Q96D71	REPS1_HUMAN	RALBP1 associated Eps domain containing 1	718	Interaction with RALBP1 (By similarity).					coated pit|plasma membrane	calcium ion binding|SH3 domain binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	19				GBM - Glioblastoma multiforme(68;0.000434)|OV - Ovarian serous cystadenocarcinoma(155;0.000548)		GTATGTTCATCAACTTCTGGC	0.388													7	80					0	0	1	0	0	G	139229869	C	G	139229869	3	3	281	1	0	0	0	0	1	0	0	0	13280	826	29	5	250	5	REPS1	6	139229869	Missense_Mutation	SNP	C	TCGA-HT-7874-01A-11D-2395-08	105539139	139229869	31885198	13	28373											
BAZ1B	9031	broad.mit.edu	37	7	72925148	72925148	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7874-01A-11D-2395-08	TCGA-HT-7874-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c6a82e9-3ef8-4f1f-89ba-b936f1ebe17b	159201aa-9f74-4b4a-ba23-b6863a698317	g.chr7:72925148G>A	ENST00000339594.4	-	2	480	c.142C>T	c.(142-144)Cgc>Tgc	p.R48C	BAZ1B_ENST00000404251.1_Missense_Mutation_p.R48C	NM_032408.3	NP_115784.1	Q9UIG0	BAZ1B_HUMAN	bromodomain adjacent to zinc finger domain, 1B	48	Mediates the tyrosine-protein kinase activity.|WAC.				ATP-dependent chromatin remodeling|chromatin-mediated maintenance of transcription|DNA replication-dependent nucleosome disassembly|double-strand break repair|heart morphogenesis|transcription, DNA-dependent	WINAC complex	ATP binding|chromatin binding|histone acetyl-lysine binding|histone kinase activity|non-membrane spanning protein tyrosine kinase activity|protein complex scaffold|vitamin D receptor activator activity|vitamin D receptor binding|zinc ion binding			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Lung NSC(55;0.0659)|all_lung(88;0.152)				GTCCAAATGCGCTCACTGTAC	0.463													30	87					0	0	1	0	0	A	72925148	G	A	72925148	3	1	281	1	0	0	0	0	1	0	0	0	1328	1087	38	1	4381	1	BAZ1B	7	72925148	Missense_Mutation	SNP	G	TCGA-HT-7874-01A-11D-2395-08		72925148	86213515	14	28374											
LIMK1	3984	broad.mit.edu	37	7	73513495	73513495	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7874-01A-11D-2395-08	TCGA-HT-7874-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c6a82e9-3ef8-4f1f-89ba-b936f1ebe17b	159201aa-9f74-4b4a-ba23-b6863a698317	g.chr7:73513495T>C	ENST00000418310.1	+	5	727	c.625T>C	c.(625-627)Tca>Cca	p.S209P	LIMK1_ENST00000336180.2_Missense_Mutation_p.S179P|LIMK1_ENST00000491052.1_3'UTR|LIMK1_ENST00000538333.3_Missense_Mutation_p.S145P			P53667	LIMK1_HUMAN	LIM domain kinase 1	179	PDZ.				actin cytoskeleton organization|axon guidance|negative regulation of ubiquitin-protein ligase activity|positive regulation of actin filament bundle assembly|positive regulation of axon extension|Rho protein signal transduction	cytosol|growth cone|nucleus	ATP binding|heat shock protein binding|protein serine/threonine kinase activity|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	21		Lung NSC(55;0.137)				GCGTGGACTTTCAGTCTCCAT	0.677													31	132					0	0	1	0	0	C	73513495	T	C	73513495	3	2	281	1	0	0	0	0	1	0	0	0	8841	1783	62	3	553	3	LIMK1	7	73513495	Missense_Mutation	SNP	T	TCGA-HT-7874-01A-11D-2395-08	588347	73513495	85625168	15	28375											
MYOF	26509	broad.mit.edu	37	10	95072807	95072807	+	Silent	SNP	G	G	A			TCGA-HT-7874-01A-11D-2395-08	TCGA-HT-7874-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c6a82e9-3ef8-4f1f-89ba-b936f1ebe17b	159201aa-9f74-4b4a-ba23-b6863a698317	g.chr10:95072807G>A	ENST00000371501.4	-	51	5981	c.5859C>T	c.(5857-5859)taC>taT	p.Y1953Y	MYOF_ENST00000358334.5_Silent_p.Y1940Y|MYOF_ENST00000359263.4_Silent_p.Y1953Y|MYOF_ENST00000371502.4_Silent_p.Y1943Y			Q9NZM1	MYOF_HUMAN	myoferlin	1953					blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						CTTTCTCTGCGTAGCATGGCC	0.473													28	436					0	0	1	0	0	A	95072807	G	A	95072807	2	1	281	1	0	0	0	0	0	0	0	1	10137	1140	40	1		1	MYOF	10	95072807	Silent	SNP	G	TCGA-HT-7874-01A-11D-2395-08		95072807	40461940	16	28376											
CCDC88B	283234	broad.mit.edu	37	11	64112395	64112395	+	Silent	SNP	G	G	A			TCGA-HT-7874-01A-11D-2395-08	TCGA-HT-7874-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c6a82e9-3ef8-4f1f-89ba-b936f1ebe17b	159201aa-9f74-4b4a-ba23-b6863a698317	g.chr11:64112395G>A	ENST00000356786.5	+	14	2426	c.2382G>A	c.(2380-2382)cgG>cgA	p.R794R	CCDC88B_ENST00000301897.4_5'UTR|CCDC88B_ENST00000463837.1_3'UTR	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN	coiled-coil domain containing 88B	794					microtubule cytoskeleton organization	cytoplasm	microtubule binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CCCGGCTGCGGGAGGCAGTGG	0.741													3	6					0	0	1	0	0	A	64112395	G	A	64112395	2	1	281	1	0	0	0	0	0	0	0	1	2884	1219	43	2		2	CCDC88B	11	64112395	Silent	SNP	G	TCGA-HT-7874-01A-11D-2395-08		64112395	70894121	17	28377											
EP400	57634	broad.mit.edu	37	12	132466834	132466834	+	Silent	SNP	G	G	A			TCGA-HT-7874-01A-11D-2395-08	TCGA-HT-7874-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c6a82e9-3ef8-4f1f-89ba-b936f1ebe17b	159201aa-9f74-4b4a-ba23-b6863a698317	g.chr12:132466834G>A	ENST00000333577.4	+	6	1957	c.1848G>A	c.(1846-1848)caG>caA	p.Q616Q	EP400_ENST00000389561.2_Silent_p.Q580Q|EP400_ENST00000389562.2_Silent_p.Q579Q|EP400_ENST00000332482.4_Silent_p.Q543Q|EP400_ENST00000330386.6_Silent_p.Q580Q			Q96L91	EP400_HUMAN	E1A binding protein p400	616					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		TTGCACAGCAGCCGCAAGTGG	0.657													18	99					0	0	1	0	0	A	132466834	G	A	132466834	2	1	281	1	0	0	0	0	0	0	0	1	5177	962	34	2		2	EP400	12	132466834	Silent	SNP	G	TCGA-HT-7874-01A-11D-2395-08		132466834	1385061	18	28378											
CYP4F3	4051	broad.mit.edu	37	19	15769595	15769595	+	Missense_Mutation	SNP	T	T	A			TCGA-HT-7874-01A-11D-2395-08	TCGA-HT-7874-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c6a82e9-3ef8-4f1f-89ba-b936f1ebe17b	159201aa-9f74-4b4a-ba23-b6863a698317	g.chr19:15769595T>A	ENST00000221307.8	+	12	1420	c.1373T>A	c.(1372-1374)tTt>tAt	p.F458Y	CYP4F3_ENST00000585846.1_Missense_Mutation_p.F458Y|CYP4F3_ENST00000591058.1_Missense_Mutation_p.F458Y|CYP4F3_ENST00000586182.2_Missense_Mutation_p.F458Y	NM_000896.2	NP_000887.2	Q08477	CP4F3_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 3						leukotriene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding			endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1)	34						CCTCTGGCTTTTATTCCCTTC	0.592													7	135					0	0	1	0	0	A	15769595	T	A	15769595	3	1	281	1	0	0	0	0	1	0	0	0	4213	1841	64	5	1415	5	CYP4F3	19	15769595	Missense_Mutation	SNP	T	TCGA-HT-7874-01A-11D-2395-08		15769595	43359388	19	28379											
CCDC97	90324	broad.mit.edu	37	19	41826329	41826329	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7874-01A-11D-2395-08	TCGA-HT-7874-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c6a82e9-3ef8-4f1f-89ba-b936f1ebe17b	159201aa-9f74-4b4a-ba23-b6863a698317	g.chr19:41826329A>G	ENST00000269967.3	+	4	987	c.865A>G	c.(865-867)Atg>Gtg	p.M289V		NM_052848.1	NP_443080.1	Q96F63	CCD97_HUMAN	coiled-coil domain containing 97	289										biliary_tract(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)	17						CACCAGCCGCATGCACCAGCG	0.637													10	44					0	0	1	0	0	G	41826329	A	G	41826329	3	3	281	1	0	0	0	0	1	0	0	0	2895	217	8	3	879	3	CCDC97	19	41826329	Missense_Mutation	SNP	A	TCGA-HT-7874-01A-11D-2395-08	26056734	41826329	17302654	20	28380											
PRKCG	5582	broad.mit.edu	37	19	54395814	54395814	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-7874-01A-11D-2395-08	TCGA-HT-7874-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c6a82e9-3ef8-4f1f-89ba-b936f1ebe17b	159201aa-9f74-4b4a-ba23-b6863a698317	g.chr19:54395814C>G	ENST00000263431.3	+	7	1020	c.738C>G	c.(736-738)gaC>gaG	p.D246E	PRKCG_ENST00000542049.1_Missense_Mutation_p.D133E|PRKCG_ENST00000536044.1_Missense_Mutation_p.D246E|PRKCG_ENST00000540413.1_Missense_Mutation_p.D246E	NM_002739.3	NP_002730.1	P05129	KPCG_HUMAN	protein kinase C, gamma	246	C2.				activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission	cytosol	ATP binding|protein kinase C activity|zinc ion binding			large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)		AGGTGTGGGACTGGGACCGGA	0.672													4	19					0	0	1	0	0	G	54395814	C	G	54395814	3	3	281	1	0	0	0	0	1	0	0	0	12564	564	20	4	764	4	PRKCG	19	54395814	Missense_Mutation	SNP	C	TCGA-HT-7874-01A-11D-2395-08	12569485	54395814	4733169	21	28381											
NFATC2	4773	broad.mit.edu	37	20	50139839	50139839	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7874-01A-11D-2395-08	TCGA-HT-7874-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c6a82e9-3ef8-4f1f-89ba-b936f1ebe17b	159201aa-9f74-4b4a-ba23-b6863a698317	g.chr20:50139839G>A	ENST00000371564.3	-	2	1160	c.941C>T	c.(940-942)tCg>tTg	p.S314L	NFATC2_ENST00000396009.3_Missense_Mutation_p.S314L|NFATC2_ENST00000609943.1_Missense_Mutation_p.S294L|NFATC2_ENST00000609507.1_Missense_Mutation_p.S95L|NFATC2_ENST00000414705.1_Missense_Mutation_p.S294L|NFATC2_ENST00000610033.1_Missense_Mutation_p.S95L	NM_001258296.1|NM_012340.4	NP_001245225.1|NP_036472.2	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2	314					B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity		EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					CCCACAAGGCGAGTCCGTGGC	0.687													5	21					0	0	1	0	0	A	50139839	G	A	50139839	3	1	281	1	0	0	0	0	1	0	0	0	10409	1059	37	1	1920	1	NFATC2	20	50139839	Missense_Mutation	SNP	G	TCGA-HT-7874-01A-11D-2395-08		50139839	12885681	22	28382											
BTG3	10950	broad.mit.edu	37	21	18966541	18966541	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7874-01A-11D-2395-08	TCGA-HT-7874-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c6a82e9-3ef8-4f1f-89ba-b936f1ebe17b	159201aa-9f74-4b4a-ba23-b6863a698317	g.chr21:18966541G>A	ENST00000339775.6	-	6	914	c.761C>T	c.(760-762)cCa>cTa	p.P254L	BTG3_ENST00000348354.6_Missense_Mutation_p.P210L	NM_001130914.1	NP_001124386.1	Q14201	BTG3_HUMAN	BTG family, member 3	210					negative regulation of cell proliferation|negative regulation of mitotic cell cycle	cytoplasm				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)	8				Epithelial(23;0.000283)|all cancers(11;0.0012)|Lung(58;0.0191)|OV - Ovarian serous cystadenocarcinoma(11;0.0206)|COAD - Colon adenocarcinoma(22;0.0315)|LUSC - Lung squamous cell carcinoma(23;0.0703)|Colorectal(24;0.0971)		ATAACCAAATGGAACAGGAGG	0.458													5	67					0	0	1	0	0	A	18966541	G	A	18966541	3	1	281	1	0	0	0	0	1	0	0	0	1558	1348	47	2	133	2	BTG3	21	18966541	Missense_Mutation	SNP	G	TCGA-HT-7874-01A-11D-2395-08		18966541	29163354	23	28383											
SAMM50	25813	broad.mit.edu	37	22	44377307	44377307	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7874-01A-11D-2395-08	TCGA-HT-7874-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c6a82e9-3ef8-4f1f-89ba-b936f1ebe17b	159201aa-9f74-4b4a-ba23-b6863a698317	g.chr22:44377307C>T	ENST00000350028.4	+	11	1130	c.973C>T	c.(973-975)Ccc>Tcc	p.P325S	SAMM50_ENST00000396202.3_Missense_Mutation_p.P115S	NM_015380.4	NP_056195.3	Q9Y512	SAM50_HUMAN	SAMM50 sorting and assembly machinery component	325					protein import into mitochondrial outer membrane	integral to membrane|integral to membrane of membrane fraction|mitochondrial sorting and assembly machinery complex	protein binding			endometrium(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222)				AATGTTGGTACCCATTGGTGA	0.388													6	75					0	0	1	0	0	T	44377307	C	T	44377307	3	4	281	1	0	0	0	0	1	0	0	0	13881	507	18	2	1015	2	SAMM50	22	44377307	Missense_Mutation	SNP	C	TCGA-HT-7874-01A-11D-2395-08		44377307	6927259	24	28384											
ZNF645	158506	broad.mit.edu	37	X	22291314	22291314	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7874-01A-11D-2395-08	TCGA-HT-7874-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c6a82e9-3ef8-4f1f-89ba-b936f1ebe17b	159201aa-9f74-4b4a-ba23-b6863a698317	g.chrX:22291314G>A	ENST00000323684.1	+	1	250	c.206G>A	c.(205-207)cGa>cAa	p.R69Q		NM_152577.3	NP_689790.1	Q8N7E2	ZN645_HUMAN	zinc finger protein 645	69						intracellular	zinc ion binding			cervix(1)|endometrium(4)|large_intestine(8)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1)	27						ATCTATGGGCGAATAATTCCG	0.383													24	93					0	0	1	0	0	A	22291314	G	A	22291314	3	1	281	1	0	0	0	0	1	0	0	0	18118	1058	37	1	208	1	ZNF645	23	22291314	Missense_Mutation	SNP	G	TCGA-HT-7874-01A-11D-2395-08		22291314	132979246	25	28385											
DGKK	139189	broad.mit.edu	37	X	50127815	50127815	+	RNA	SNP	A	A	C			TCGA-HT-7874-01A-11D-2395-08	TCGA-HT-7874-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c6a82e9-3ef8-4f1f-89ba-b936f1ebe17b	159201aa-9f74-4b4a-ba23-b6863a698317	g.chrX:50127815A>C	ENST00000376025.2	-	0	2414							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					TGCTTTCCTCATCCAGAGCTA	0.453													13	92					0	0	1	0	0	C	50127815	A	C	50127815	1	2	281	0	1	0	0	0	0	0	0	0	4500	214	8	4		4	DGKK	23	50127815	RNA	SNP	A	TCGA-HT-7874-01A-11D-2395-08	27836501	50127815	105142745	26	28386											
SHROOM4	57477	broad.mit.edu	37	X	50377684	50377685	+	Frame_Shift_Ins	INS	-	-	G			TCGA-HT-7874-01A-11D-2395-08	TCGA-HT-7874-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c6a82e9-3ef8-4f1f-89ba-b936f1ebe17b	159201aa-9f74-4b4a-ba23-b6863a698317	g.chrX:50377684_50377685insG	ENST00000376020.2	-	4	1413_1414	c.1388_1389insC	c.(1387-1389)cctfs	p.P463fs	SHROOM4_ENST00000289292.7_Frame_Shift_Ins_p.P463fs|SHROOM4_ENST00000460112.3_Frame_Shift_Ins_p.P347fs	NM_020717.3	NP_065768.2	Q9ULL8	SHRM4_HUMAN	shroom family member 4	463					actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					TTCCTCCTGTAGGGGGGCATGG	0.554													13	135	---	---	---	---						G	50377685	-	G	50377684	7	5	281	1	0	1	1	0	0	0	0	0	14351	407	15	0	3116	0	SHROOM4	23	50377684	Frame_Shift_Ins	INS	-	TCGA-HT-7874-01A-11D-2395-08	249869	50377684	104892876	27	28387											
ZCCHC5	203430	broad.mit.edu	37	X	77913195	77913195	+	Silent	SNP	A	A	T			TCGA-HT-7874-01A-11D-2395-08	TCGA-HT-7874-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c6a82e9-3ef8-4f1f-89ba-b936f1ebe17b	159201aa-9f74-4b4a-ba23-b6863a698317	g.chrX:77913195A>T	ENST00000321110.1	-	2	1018	c.723T>A	c.(721-723)acT>acA	p.T241T		NM_152694.2	NP_689907.1	Q8N8U3	ZCHC5_HUMAN	zinc finger, CCHC domain containing 5	241							nucleic acid binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1)	37						TGAAGGTTAAAGTGTATTGCA	0.502													9	33					0	0	1	0	0	T	77913195	A	T	77913195	2	4	281	1	0	0	0	0	0	0	0	1	17649	59	3	5		5	ZCCHC5	23	77913195	Silent	SNP	A	TCGA-HT-7874-01A-11D-2395-08	27535511	77913195	77357365	28	28388											
PCDH19	57526	broad.mit.edu	37	X	99662610	99662610	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7874-01A-11D-2395-08	TCGA-HT-7874-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c6a82e9-3ef8-4f1f-89ba-b936f1ebe17b	159201aa-9f74-4b4a-ba23-b6863a698317	g.chrX:99662610T>C	ENST00000373034.4	-	1	2661	c.986A>G	c.(985-987)cAc>cGc	p.H329R	PCDH19_ENST00000420881.2_Missense_Mutation_p.H329R|PCDH19_ENST00000255531.7_Missense_Mutation_p.H329R	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	329	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						GACCTTGCAGTGTGCCGGGAT	0.592													18	64					0	0	1	0	0	C	99662610	T	C	99662610	3	2	281	1	0	0	0	0	1	0	0	0	11561	1696	59	3	2484	3	PCDH19	23	99662610	Missense_Mutation	SNP	T	TCGA-HT-7874-01A-11D-2395-08	21749415	99662610	55607950	29	28389											
MAGEC1	9947	broad.mit.edu	37	X	140994428	140994428	+	Missense_Mutation	SNP	C	C	A	rs72236299		TCGA-HT-7874-01A-11D-2395-08	TCGA-HT-7874-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c6a82e9-3ef8-4f1f-89ba-b936f1ebe17b	159201aa-9f74-4b4a-ba23-b6863a698317	g.chrX:140994428C>A	ENST00000285879.4	+	4	1524	c.1238C>A	c.(1237-1239)aCc>aAc	p.T413N	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	413							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					ATTCCTATGACCTCCTCCTTC	0.463										HNSCC(15;0.026)			11	316					2.80697e-09	3.0229e-09	1	1	0	A	140994428	C	A	140994428	3	1	281	1	0	0	0	0	1	0	0	0	9230	507	18	5	1244	5	MAGEC1	23	140994428	Missense_Mutation	SNP	C	TCGA-HT-7874-01A-11D-2395-08	41331818	140994428	14276132	30	28390											
TCEB3	6924	broad.mit.edu	37	1	24080638	24080638	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7875-01A-11D-2395-08	TCGA-HT-7875-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c82b3e-cb3a-4e3b-8805-09887d6cf639	3b415304-5b67-40c9-96a3-45e5731b194c	g.chr1:24080638G>A	ENST00000418390.2	+	6	1935	c.1664G>A	c.(1663-1665)aGa>aAa	p.R555K	TCEB3_ENST00000609199.1_Missense_Mutation_p.R529K	NM_003198.2	NP_003189.2	Q14241	ELOA1_HUMAN	transcription elongation factor B (SIII), polypeptide 3 (110kDa, elongin A)	555	Activation domain (By similarity).				positive regulation of viral transcription|regulation of transcription from RNA polymerase II promoter|transcription elongation from RNA polymerase II promoter|viral reproduction	integral to membrane	DNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.42e-24)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;4.74e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|KIRC - Kidney renal clear cell carcinoma(1967;0.00334)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)		ACTGGGCGCAGAATGAATTCC	0.448													45	7					0	0	1	0	0	A	24080638	G	A	24080638	3	1	282	1	0	0	0	0	1	0	0	0	15741	942	33	2	1686	2	TCEB3	1	24080638	Missense_Mutation	SNP	G	TCGA-HT-7875-01A-11D-2395-08		24080638	225169983	1	28391											
ZNF683	257101	broad.mit.edu	37	1	26691295	26691295	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7875-01A-11D-2395-08	TCGA-HT-7875-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c82b3e-cb3a-4e3b-8805-09887d6cf639	3b415304-5b67-40c9-96a3-45e5731b194c	g.chr1:26691295C>T	ENST00000436292.1	-	4	862	c.742G>A	c.(742-744)Gct>Act	p.A248T	ZNF683_ENST00000374204.1_Missense_Mutation_p.A248T|ZNF683_ENST00000349618.3_Missense_Mutation_p.A248T|ZNF683_ENST00000403843.1_Missense_Mutation_p.A248T			Q8IZ20	ZN683_HUMAN	zinc finger protein 683	248					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.L228_W235delLGHPSARW(1)|p.L243_W250delLGHPSARW(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1)	15		all_cancers(24;2.39e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.76e-26)|Colorectal(126;1.38e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00793)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.159)|LUSC - Lung squamous cell carcinoma(448;0.233)		TCCCACCGAGCGCTGGGGTGC	0.642													51	7					0	0	1	0	0	T	26691295	C	T	26691295	3	4	282	1	0	0	0	0	1	0	0	0	18146	768	27	1	784	1	ZNF683	1	26691295	Missense_Mutation	SNP	C	TCGA-HT-7875-01A-11D-2395-08	2610657	26691295	222559326	2	28392											
FLG	2312	broad.mit.edu	37	1	152286155	152286155	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7875-01A-11D-2395-08	TCGA-HT-7875-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c82b3e-cb3a-4e3b-8805-09887d6cf639	3b415304-5b67-40c9-96a3-45e5731b194c	g.chr1:152286155C>T	ENST00000368799.1	-	3	1242	c.1207G>A	c.(1207-1209)Ggg>Agg	p.G403R	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	403	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GAAGCTTGCCCGCGCCCAGTG	0.562									Ichthyosis				116	499					0	0	1	0	0	T	152286155	C	T	152286155	3	4	282	1	0	0	0	0	1	0	0	0	5955	652	23	1	10982	1	FLG	1	152286155	Missense_Mutation	SNP	C	TCGA-HT-7875-01A-11D-2395-08	125594860	152286155	96964466	3	28393											
XCL2	6846	broad.mit.edu	37	1	168510202	168510202	+	Silent	SNP	G	G	A	rs149372418	byFrequency	TCGA-HT-7875-01A-11D-2395-08	TCGA-HT-7875-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c82b3e-cb3a-4e3b-8805-09887d6cf639	3b415304-5b67-40c9-96a3-45e5731b194c	g.chr1:168510202G>A	ENST00000367819.2	-	3	365	c.333C>T	c.(331-333)acC>acT	p.T111T		NM_003175.3	NP_003166.1	Q9UBD3	XCL2_HUMAN	chemokine (C motif) ligand 2	111					blood circulation|chemotaxis|immune response|signal transduction	extracellular space	chemokine activity	p.T111T(1)		large_intestine(1)|lung(6)|ovary(1)	8	all_hematologic(923;0.215)					AGCCAGTCAGGGTCACAGCTG	0.498													4	82					0	0	1	0	0	A	168510202	G	A	168510202	2	1	282	1	0	0	0	0	0	0	0	1	17484	1219	43	2		2	XCL2	1	168510202	Silent	SNP	G	TCGA-HT-7875-01A-11D-2395-08	16224047	168510202	80740419	4	28394											
ARID4B	51742	broad.mit.edu	37	1	235345098	235345098	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7875-01A-11D-2395-08	TCGA-HT-7875-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c82b3e-cb3a-4e3b-8805-09887d6cf639	3b415304-5b67-40c9-96a3-45e5731b194c	g.chr1:235345098T>C	ENST00000264183.3	-	20	3633	c.3136A>G	c.(3136-3138)Aca>Gca	p.T1046A	ARID4B_ENST00000494543.1_5'UTR|ARID4B_ENST00000349213.3_Missense_Mutation_p.T960A|ARID4B_ENST00000366603.2_Missense_Mutation_p.T1046A	NM_016374.5	NP_057458.4	Q4LE39	ARI4B_HUMAN	AT rich interactive domain 4B (RBP1-like)	1046					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding			NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)			TCTGATACTGTTACAGAAGAC	0.473													34	28					0	0	1	0	0	C	235345098	T	C	235345098	3	2	282	1	0	0	0	0	1	0	0	0	917	1725	60	3	822	3	ARID4B	1	235345098	Missense_Mutation	SNP	T	TCGA-HT-7875-01A-11D-2395-08	66834896	235345098	13905523	5	28395											
TPO	7173	broad.mit.edu	37	2	1491722	1491722	+	Missense_Mutation	SNP	C	C	A			TCGA-HT-7875-01A-11D-2395-08	TCGA-HT-7875-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c82b3e-cb3a-4e3b-8805-09887d6cf639	3b415304-5b67-40c9-96a3-45e5731b194c	g.chr2:1491722C>A	ENST00000345913.4	+	10	1818	c.1727C>A	c.(1726-1728)gCg>gAg	p.A576E	TPO_ENST00000349624.3_Missense_Mutation_p.A403E|TPO_ENST00000329066.4_Missense_Mutation_p.A576E|TPO_ENST00000382201.3_Intron|TPO_ENST00000497517.2_Intron|TPO_ENST00000382198.1_Missense_Mutation_p.A403E|TPO_ENST00000346956.3_Missense_Mutation_p.A576E|TPO_ENST00000337415.3_Missense_Mutation_p.A576E	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	576					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity	p.A576E(1)		breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	TTGGATCTGGCGTCCATCAAC	0.592													59	63					2.44813e-32	2.66415e-32	1	1	0	A	1491722	C	A	1491722	3	1	282	1	0	0	0	0	1	0	0	0	16471	768	27	5	1761	5	TPO	2	1491722	Missense_Mutation	SNP	C	TCGA-HT-7875-01A-11D-2395-08		1491722	241707651	6	28396											
MBD5	55777	broad.mit.edu	37	2	149227787	149227787	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7875-01A-11D-2395-08	TCGA-HT-7875-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c82b3e-cb3a-4e3b-8805-09887d6cf639	3b415304-5b67-40c9-96a3-45e5731b194c	g.chr2:149227787G>A	ENST00000407073.1	+	9	3272	c.2275G>A	c.(2275-2277)Gtg>Atg	p.V759M	MBD5_ENST00000404807.1_Missense_Mutation_p.V759M	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	759						chromosome|nucleus	chromatin binding|DNA binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		AGGGGAAGCCGTGCACTGCCA	0.448													51	57					0	0	1	0	0	A	149227787	G	A	149227787	3	1	282	1	0	0	0	0	1	0	0	0	9397	1145	40	1	2289	1	MBD5	2	149227787	Missense_Mutation	SNP	G	TCGA-HT-7875-01A-11D-2395-08	147736065	149227787	93971586	7	28397											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-HT-7875-01A-11D-2395-08	TCGA-HT-7875-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c82b3e-cb3a-4e3b-8805-09887d6cf639	3b415304-5b67-40c9-96a3-45e5731b194c	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	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								25	47					0	0	1	0	0	T	209113112	C	T	209113112	3	4	282	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HT-7875-01A-11D-2395-08	59885325	209113112	34086261	8	28398											
FAM124B	79843	broad.mit.edu	37	2	225266211	225266211	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7875-01A-11D-2395-08	TCGA-HT-7875-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c82b3e-cb3a-4e3b-8805-09887d6cf639	3b415304-5b67-40c9-96a3-45e5731b194c	g.chr2:225266211G>A	ENST00000389874.3	-	1	500	c.275C>T	c.(274-276)tCg>tTg	p.S92L	FAM124B_ENST00000243806.2_Missense_Mutation_p.S92L|FAM124B_ENST00000409685.3_Missense_Mutation_p.S92L	NM_024785.2	NP_079061.2	Q9H5Z6	F124B_HUMAN	family with sequence similarity 124B	92							protein binding			endometrium(2)|large_intestine(2)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	16		Renal(207;0.0112)|all_lung(227;0.0126)|Lung NSC(271;0.0161)|all_hematologic(139;0.138)		Epithelial(121;4.4e-10)|all cancers(144;2.02e-07)|Lung(261;0.00766)|LUSC - Lung squamous cell carcinoma(224;0.00825)		CTGCCATGGCGAATGCTGGAG	0.582													31	36					0	0	1	0	0	A	225266211	G	A	225266211	3	1	282	1	0	0	0	0	1	0	0	0	5457	1059	37	1	1191	1	FAM124B	2	225266211	Missense_Mutation	SNP	G	TCGA-HT-7875-01A-11D-2395-08	16153099	225266211	17933162	9	28399											
IQSEC1	9922	broad.mit.edu	37	3	12977072	12977072	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7875-01A-11D-2395-08	TCGA-HT-7875-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c82b3e-cb3a-4e3b-8805-09887d6cf639	3b415304-5b67-40c9-96a3-45e5731b194c	g.chr3:12977072G>A	ENST00000273221.4	-	3	1702	c.1486C>T	c.(1486-1488)Cgg>Tgg	p.R496W		NM_014869.5	NP_055684.3	Q6DN90	IQEC1_HUMAN	IQ motif and Sec7 domain 1	496					regulation of ARF protein signal transduction	cytoplasm|nucleus	ARF guanyl-nucleotide exchange factor activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GTCTGCTCCCGCAGGCTGTCA	0.582													4	128					0	0	1	0	0	A	12977072	G	A	12977072	3	1	282	1	0	0	0	0	1	0	0	0	7861	1086	38	1	1998	1	IQSEC1	3	12977072	Missense_Mutation	SNP	G	TCGA-HT-7875-01A-11D-2395-08		12977072	185045358	10	28400											
COL7A1	1294	broad.mit.edu	37	3	48609570	48609570	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7875-01A-11D-2395-08	TCGA-HT-7875-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c82b3e-cb3a-4e3b-8805-09887d6cf639	3b415304-5b67-40c9-96a3-45e5731b194c	g.chr3:48609570C>T	ENST00000328333.8	-	90	7120	c.7013G>A	c.(7012-7014)cGa>cAa	p.R2338Q	COL7A1_ENST00000454817.1_Missense_Mutation_p.R2306Q	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	2338	Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity	p.R2338Q(1)		NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CTTCTCGCCTCGCGGCCCTGG	0.612													25	29					0	0	1	0	0	T	48609570	C	T	48609570	3	4	282	1	0	0	0	0	1	0	0	0	3727	884	31	1	1937	1	COL7A1	3	48609570	Missense_Mutation	SNP	C	TCGA-HT-7875-01A-11D-2395-08	35632498	48609570	149412860	11	28401											
UBA7	7318	broad.mit.edu	37	3	49848836	49848836	+	Missense_Mutation	SNP	C	C	T	rs12486358		TCGA-HT-7875-01A-11D-2395-08	TCGA-HT-7875-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c82b3e-cb3a-4e3b-8805-09887d6cf639	3b415304-5b67-40c9-96a3-45e5731b194c	g.chr3:49848836C>T	ENST00000333486.3	-	9	1150	c.992G>A	c.(991-993)cGg>cAg	p.R331Q		NM_003335.2	NP_003326.2	P41226	UBA7_HUMAN	ubiquitin-like modifier activating enzyme 7	331	2 approximate repeats.				ISG15-protein conjugation|negative regulation of type I interferon production	cytosol	ATP binding|ISG15 activating enzyme activity|ligase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(15)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;3.58e-06)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		ttccTCTGTCCGCTTCAGTGG	0.602													5	34					0	0	1	0	0	T	49848836	C	T	49848836	3	4	282	1	0	0	0	0	1	0	0	0	16894	652	23	1	2110	1	UBA7	3	49848836	Missense_Mutation	SNP	C	TCGA-HT-7875-01A-11D-2395-08	1239266	49848836	148173594	12	28402											
VGLL3	389136	broad.mit.edu	37	3	87018080	87018080	+	Silent	SNP	A	A	G			TCGA-HT-7875-01A-11D-2395-08	TCGA-HT-7875-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c82b3e-cb3a-4e3b-8805-09887d6cf639	3b415304-5b67-40c9-96a3-45e5731b194c	g.chr3:87018080A>G	ENST00000398399.2	-	3	960	c.597T>C	c.(595-597)ccT>ccC	p.P199P	VGLL3_ENST00000383698.3_Silent_p.P199P	NM_016206.2	NP_057290.2	A8MV65	VGLL3_HUMAN	vestigial like 3 (Drosophila)	199					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(11)	19	all_cancers(8;0.109)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)		CAGCAGGGGGAGGGGCTGGGC	0.587													6	189					0	0	1	0	0	G	87018080	A	G	87018080	2	3	282	1	0	0	0	0	0	0	0	1	17220	291	11	3		3	VGLL3	3	87018080	Silent	SNP	A	TCGA-HT-7875-01A-11D-2395-08	37169244	87018080	111004350	13	28403											
ZNF654	55279	broad.mit.edu	37	3	88188745	88188748	+	Frame_Shift_Del	DEL	ACTT	ACTT	-			TCGA-HT-7875-01A-11D-2395-08	TCGA-HT-7875-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c82b3e-cb3a-4e3b-8805-09887d6cf639	3b415304-5b67-40c9-96a3-45e5731b194c	g.chr3:88188745_88188748delACTT	ENST00000309495.5	+	1	492_495	c.285_288delACTT	c.(283-288)acacttfs	p.TL95fs	CGGBP1_ENST00000462901.1_Intron	NM_018293.2	NP_060763.2	Q8IZM8	ZN654_HUMAN	zinc finger protein 654	95					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(3)	12		Lung NSC(201;0.0283)		UCEC - Uterine corpus endometrioid carcinoma (27;0.194)|LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00661)		AAGTGGAGACACTTACTGCTTCTA	0.358													8	43	---	---	---	---						-	88188748	ACTT	-	88188745	7	5	282	1	0	1	0	1	0	0	0	0	18124	146	6	0	287	0	ZNF654	3	88188745	Frame_Shift_Del	DEL	ACTT	TCGA-HT-7875-01A-11D-2395-08	1170665	88188745	109833685	14	28404											
HTT	3064	broad.mit.edu	37	4	3076604	3076606	+	In_Frame_Del	DEL	CAG	CAG	-	rs71180116		TCGA-HT-7875-01A-11D-2395-08	TCGA-HT-7875-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c82b3e-cb3a-4e3b-8805-09887d6cf639	3b415304-5b67-40c9-96a3-45e5731b194c	g.chr4:3076604_3076606delCAG	ENST00000355072.5	+	1	197_199	c.52_54delCAG	c.(52-54)cagdel	p.Q38del		NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin	38	Poly-Gln.				establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		CAAGTCCTTCcagcagcagcagc	0.704													3	4	---	---	---	---						-	3076606	CAG	-	3076604	7	5	282	1	0	1	0	1	0	0	0	0	7501	595	21	0	54	0	HTT	4	3076604	In_Frame_Del	DEL	CAG	TCGA-HT-7875-01A-11D-2395-08		3076604	188077672	15	28405											
GABRA4	2557	broad.mit.edu	37	4	46979112	46979112	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7875-01A-11D-2395-08	TCGA-HT-7875-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c82b3e-cb3a-4e3b-8805-09887d6cf639	3b415304-5b67-40c9-96a3-45e5731b194c	g.chr4:46979112C>T	ENST00000264318.3	-	5	1525	c.543G>A	c.(541-543)atG>atA	p.M181I		NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 4	181					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	CATGACCATCCATGGGAAAAT	0.333													7	35					0	0	1	0	0	T	46979112	C	T	46979112	3	4	282	1	0	0	0	0	1	0	0	0	6198	594	21	2	1141	2	GABRA4	4	46979112	Missense_Mutation	SNP	C	TCGA-HT-7875-01A-11D-2395-08	43902508	46979112	144175164	16	28406											
CLOCK	9575	broad.mit.edu	37	4	56301648	56301648	+	Silent	SNP	T	T	C			TCGA-HT-7875-01A-11D-2395-08	TCGA-HT-7875-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c82b3e-cb3a-4e3b-8805-09887d6cf639	3b415304-5b67-40c9-96a3-45e5731b194c	g.chr4:56301648T>C	ENST00000309964.4	-	22	2725	c.2475A>G	c.(2473-2475)caA>caG	p.Q825Q	CLOCK_ENST00000513440.1_Silent_p.Q825Q|CLOCK_ENST00000381322.1_Silent_p.Q825Q	NM_004898.3	NP_004889.1	O15516	CLOCK_HUMAN	clock circadian regulator	825	Poly-Gln.				circadian rhythm|photoperiodism|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|transcription factor complex	DNA binding|histone acetyltransferase activity|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(8)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107)			GTTGCTGCTGTTGCTGAGACT	0.527													55	76					0	0	1	0	0	C	56301648	T	C	56301648	2	2	282	1	0	0	0	0	0	0	0	1	3572	1722	60	3		3	CLOCK	4	56301648	Silent	SNP	T	TCGA-HT-7875-01A-11D-2395-08	9322536	56301648	134852628	17	28407											
NPFFR2	10886	broad.mit.edu	37	4	72994632	72994632	+	Silent	SNP	A	A	T			TCGA-HT-7875-01A-11D-2395-08	TCGA-HT-7875-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c82b3e-cb3a-4e3b-8805-09887d6cf639	3b415304-5b67-40c9-96a3-45e5731b194c	g.chr4:72994632A>T	ENST00000308744.6	+	2	728	c.630A>T	c.(628-630)atA>atT	p.I210I	NPFFR2_ENST00000358749.3_Silent_p.I108I|NPFFR2_ENST00000395999.1_Silent_p.I111I|NPFFR2_ENST00000344413.5_Intron	NM_004885.2	NP_004876.2	Q9Y5X5	NPFF2_HUMAN	neuropeptide FF receptor 2	210					detection of abiotic stimulus	actin cytoskeleton|integral to plasma membrane	neuropeptide receptor activity			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(24)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43			Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138)			ACAATATTATAGCAGGTATGT	0.368													37	55					0	0	1	0	0	T	72994632	A	T	72994632	2	4	282	1	0	0	0	0	0	0	0	1	10625	410	15	5		5	NPFFR2	4	72994632	Silent	SNP	A	TCGA-HT-7875-01A-11D-2395-08	16692984	72994632	118159644	18	28408											
INPP4B	8821	broad.mit.edu	37	4	143094941	143094941	+	Silent	SNP	G	G	A			TCGA-HT-7875-01A-11D-2395-08	TCGA-HT-7875-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c82b3e-cb3a-4e3b-8805-09887d6cf639	3b415304-5b67-40c9-96a3-45e5731b194c	g.chr4:143094941G>A	ENST00000513000.1	-	17	1636	c.1203C>T	c.(1201-1203)taC>taT	p.Y401Y	INPP4B_ENST00000509777.1_Silent_p.Y401Y|INPP4B_ENST00000308502.4_Silent_p.Y401Y|INPP4B_ENST00000508116.1_Silent_p.Y401Y|INPP4B_ENST00000262992.4_Silent_p.Y401Y	NM_003866.2	NP_003857.2	O15327	INP4B_HUMAN	inositol polyphosphate-4-phosphatase, type II, 105kDa	401					signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(29)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58	all_hematologic(180;0.158)					CAGGTGAATAGTAAATAAACT	0.368													7	117					0	0	1	0	0	A	143094941	G	A	143094941	2	1	282	1	0	0	0	0	0	0	0	1	7797	1024	36	2		2	INPP4B	4	143094941	Silent	SNP	G	TCGA-HT-7875-01A-11D-2395-08	70100309	143094941	48059335	19	28409											
MARCH6	10299	broad.mit.edu	37	5	10426541	10426541	+	Missense_Mutation	SNP	A	A	T			TCGA-HT-7875-01A-11D-2395-08	TCGA-HT-7875-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c82b3e-cb3a-4e3b-8805-09887d6cf639	3b415304-5b67-40c9-96a3-45e5731b194c	g.chr5:10426541A>T	ENST00000274140.5	+	24	2545	c.2413A>T	c.(2413-2415)Att>Ttt	p.I805F	MARCH6_ENST00000449913.2_Missense_Mutation_p.I757F|MARCH6_ENST00000503788.1_Missense_Mutation_p.I700F|MARCH6_ENST00000510792.1_Missense_Mutation_p.I503F	NM_005885.3	NP_005876.2	O60337	MARH6_HUMAN	membrane-associated ring finger (C3HC4) 6, E3 ubiquitin protein ligase	805					protein K48-linked ubiquitination	integral to endoplasmic reticulum membrane	ubiquitin conjugating enzyme binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(35)|ovary(1)|urinary_tract(3)	54						CCTTCACTATATTGTTCGTAA	0.403													17	153					0	0	1	0	0	T	10426541	A	T	10426541	3	4	282	1	0	0	0	0	1	0	0	0	9355	449	16	4	2507	4	MARCH6	5	10426541	Missense_Mutation	SNP	A	TCGA-HT-7875-01A-11D-2395-08		10426541	170488719	20	28410											
FGFR4	2264	broad.mit.edu	37	5	176520245	176520245	+	Silent	SNP	G	G	A			TCGA-HT-7875-01A-11D-2395-08	TCGA-HT-7875-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c82b3e-cb3a-4e3b-8805-09887d6cf639	3b415304-5b67-40c9-96a3-45e5731b194c	g.chr5:176520245G>A	ENST00000292408.4	+	9	1409	c.1164G>A	c.(1162-1164)ggG>ggA	p.G388G	FGFR4_ENST00000292410.3_Intron|FGFR4_ENST00000502906.1_Silent_p.G388G|FGFR4_ENST00000393648.2_Intron|FGFR4_ENST00000393637.1_Intron	NM_002011.3|NM_213647.1	NP_002002.3|NP_998812.1	P22455	FGFR4_HUMAN	fibroblast growth factor receptor 4	388			G -> R (in dbSNP:rs351855).		insulin receptor signaling pathway|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	34	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Palifermin(DB00039)	TGCTGGCCGGGCTGTATCGAG	0.701										TSP Lung(9;0.080)			4	67					0	0	1	0	0	A	176520245	G	A	176520245	2	1	282	1	0	0	0	0	0	0	0	1	5901	1190	42	2		2	FGFR4	5	176520245	Silent	SNP	G	TCGA-HT-7875-01A-11D-2395-08	166093704	176520245	4395015	21	28411											
SYCP2L	221711	broad.mit.edu	37	6	10955433	10955436	+	Frame_Shift_Del	DEL	AAGA	AAGA	-			TCGA-HT-7875-01A-11D-2395-08	TCGA-HT-7875-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c82b3e-cb3a-4e3b-8805-09887d6cf639	3b415304-5b67-40c9-96a3-45e5731b194c	g.chr6:10955433_10955436delAAGA	ENST00000283141.6	+	24	2335_2338	c.2039_2042delAAGA	c.(2038-2043)gaagaafs	p.EE680fs		NM_001040274.2	NP_001035364.2	Q5T4T6	SYC2L_HUMAN	synaptonemal complex protein 2-like	680						nucleus				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	36	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	Epithelial(50;0.239)			TCAATAACAGAAGAAAGAGAGTTG	0.451											OREG0017189	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	27	101	---	---	---	---						-	10955436	AAGA	-	10955433	7	5	282	1	0	1	0	1	0	0	0	0	15490	246	9	0	2133	0	SYCP2L	6	10955433	Frame_Shift_Del	DEL	AAGA	TCGA-HT-7875-01A-11D-2395-08		10955433	160159634	22	28412											
TMEM184A	202915	broad.mit.edu	37	7	1586662	1586663	+	In_Frame_Ins	INS	-	-	GCC	rs3837151	by1000genomes	TCGA-HT-7875-01A-11D-2395-08	TCGA-HT-7875-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c82b3e-cb3a-4e3b-8805-09887d6cf639	3b415304-5b67-40c9-96a3-45e5731b194c	g.chr7:1586662_1586663insGCC	ENST00000297477.5	-	9	1483_1484	c.1167_1168insGGC	c.(1165-1170)cccagc>cccGGCagc	p.389_390PS>PGS		NM_001097620.1	NP_001091089.1	Q6ZMB5	T184A_HUMAN	transmembrane protein 184A	389						integral to membrane				endometrium(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	12		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.88e-15)		GAGCCGCCGCTGGGGTGGGTGC	0.703													12	55	---	---	---	---						GCC	1586663	-	GCC	1586662	7	5	282	1	0	1	1	0	0	0	0	0	16164	1580	55	0	77	0	TMEM184A	7	1586662	In_Frame_Ins	INS	-	TCGA-HT-7875-01A-11D-2395-08		1586662	157552001	23	28413											
MUC17	140453	broad.mit.edu	37	7	100678653	100678653	+	Missense_Mutation	SNP	C	C	T	rs144372503	byFrequency	TCGA-HT-7875-01A-11D-2395-08	TCGA-HT-7875-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c82b3e-cb3a-4e3b-8805-09887d6cf639	3b415304-5b67-40c9-96a3-45e5731b194c	g.chr7:100678653C>T	ENST00000306151.4	+	3	4020	c.3956C>T	c.(3955-3957)cCt>cTt	p.P1319L		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1319	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					AGTTCATCTCCTACACCTGCT	0.478													32	451					0	0	1	0	0	T	100678653	C	T	100678653	3	4	282	1	0	0	0	0	1	0	0	0	10022	681	24	2	3966	2	MUC17	7	100678653	Missense_Mutation	SNP	C	TCGA-HT-7875-01A-11D-2395-08	99091991	100678653	58460010	24	28414											
CLU	1191	broad.mit.edu	37	8	27472227	27472227	+	Silent	SNP	A	A	G			TCGA-HT-7875-01A-11D-2395-08	TCGA-HT-7875-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c82b3e-cb3a-4e3b-8805-09887d6cf639	3b415304-5b67-40c9-96a3-45e5731b194c	g.chr8:27472227A>G	ENST00000560366.1	-	1	100	c.72T>C	c.(70-72)agT>agC	p.S24S	CLU_ENST00000316403.10_5'UTR	NM_001831.3	NP_001822.3	P10909	CLUS_HUMAN	clusterin	0					chaperone-mediated protein folding|complement activation, classical pathway|innate immune response|lipid metabolic process|negative regulation of apoptosis|negative regulation of protein homooligomerization|platelet activation|platelet degranulation|positive regulation of NF-kappaB transcription factor activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|response to misfolded protein|response to virus|reverse cholesterol transport	chromaffin granule|cytosol|endoplasmic reticulum|microsome|mitochondrial membrane|nucleus|perinuclear region of cytoplasm|platelet alpha granule lumen|spherical high-density lipoprotein particle	misfolded protein binding|ubiquitin protein ligase binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)	21		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|Colorectal(74;0.132)		CGTTGTGGGCACTGGGAGGCG	0.652											OREG0018671	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	106	104					0	0	1	0	0	G	27472227	A	G	27472227	2	3	282	1	0	0	0	0	0	0	0	1	3591	156	6	3		3	CLU	8	27472227	Silent	SNP	A	TCGA-HT-7875-01A-11D-2395-08		27472227	118891795	25	28415											
FAM166B	730112	broad.mit.edu	37	9	35563276	35563276	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7875-01A-11D-2395-08	TCGA-HT-7875-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c82b3e-cb3a-4e3b-8805-09887d6cf639	3b415304-5b67-40c9-96a3-45e5731b194c	g.chr9:35563276C>T	ENST00000399742.2	-	2	243	c.173G>A	c.(172-174)cGc>cAc	p.R58H	FAM166B_ENST00000492890.1_5'UTR	NM_001099951.2|NM_001164310.1	NP_001093421.1|NP_001157782.1	A8MTA8	F166B_HUMAN	family with sequence similarity 166, member B	58										kidney(3)|large_intestine(1)|lung(4)|ovary(1)	9						CAGAAGTGTGCGGTGGACAGG	0.617													4	171					0	0	1	0	0	T	35563276	C	T	35563276	3	4	282	1	0	0	0	0	1	0	0	0	5512	768	27	1	493	1	FAM166B	9	35563276	Missense_Mutation	SNP	C	TCGA-HT-7875-01A-11D-2395-08		35563276	105650155	26	28416											
ZNF618	114991	broad.mit.edu	37	9	116811917	116811917	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7875-01A-11D-2395-08	TCGA-HT-7875-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c82b3e-cb3a-4e3b-8805-09887d6cf639	3b415304-5b67-40c9-96a3-45e5731b194c	g.chr9:116811917G>A	ENST00000288466.7	+	14	2155	c.2056G>A	c.(2056-2058)Ggc>Agc	p.G686S	ZNF618_ENST00000470105.1_3'UTR|ZNF618_ENST00000374126.5_Missense_Mutation_p.G779S	NM_133374.2	NP_588615.2	Q5T7W0	ZN618_HUMAN	zinc finger protein 618	779					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|lung(10)|urinary_tract(1)	16						CAACGACGCAGGCACTGTCAG	0.627													12	117					0	0	1	0	0	A	116811917	G	A	116811917	3	1	282	1	0	0	0	0	1	0	0	0	18099	1000	35	2	2110	2	ZNF618	9	116811917	Missense_Mutation	SNP	G	TCGA-HT-7875-01A-11D-2395-08	81248641	116811917	24401514	27	28417											
SPTAN1	6709	broad.mit.edu	37	9	131388217	131388217	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7875-01A-11D-2395-08	TCGA-HT-7875-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c82b3e-cb3a-4e3b-8805-09887d6cf639	3b415304-5b67-40c9-96a3-45e5731b194c	g.chr9:131388217G>A	ENST00000358161.5	+	48	6352	c.6239G>A	c.(6238-6240)cGc>cAc	p.R2080H	SPTAN1_ENST00000372739.3_Missense_Mutation_p.R2080H|SPTAN1_ENST00000372731.4_Missense_Mutation_p.R2075H			Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	2075					actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						TCAGCCGCCCGCAAGAAGAAG	0.617													5	172					0	0	1	0	0	A	131388217	G	A	131388217	3	1	282	1	0	0	0	0	1	0	0	0	15173	1087	38	1	6425	1	SPTAN1	9	131388217	Missense_Mutation	SNP	G	TCGA-HT-7875-01A-11D-2395-08	14576300	131388217	9825214	28	28418											
NOTCH1	4851	broad.mit.edu	37	9	139412381	139412381	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7875-01A-11D-2395-08	TCGA-HT-7875-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c82b3e-cb3a-4e3b-8805-09887d6cf639	3b415304-5b67-40c9-96a3-45e5731b194c	g.chr9:139412381G>A	ENST00000277541.6	-	8	1339	c.1264C>T	c.(1264-1266)Ccc>Tcc	p.P422S		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	422	EGF-like 11; calcium-binding (Potential).				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	p.P422S(2)		breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		TGCTCGCAGGGGTTGGCACCT	0.667			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			5	67					0	0	1	0	0	A	139412381	G	A	139412381	3	1	282	1	0	0	0	0	1	0	0	0	10594	1232	43	2	6511	2	NOTCH1	9	139412381	Missense_Mutation	SNP	G	TCGA-HT-7875-01A-11D-2395-08	8024164	139412381	1801050	29	28419											
PRPF18	8559	broad.mit.edu	37	10	13655742	13655744	+	Splice_Site	DEL	TTC	TTC	-			TCGA-HT-7875-01A-11D-2395-08	TCGA-HT-7875-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c82b3e-cb3a-4e3b-8805-09887d6cf639	3b415304-5b67-40c9-96a3-45e5731b194c	g.chr10:13655742_13655744delTTC	ENST00000378572.3	+	7	741_743	c.581_583delTTC	c.(580-585)tttctt>ttt	p.L196del		NM_003675.3	NP_003666.1	Q99633	PRP18_HUMAN	pre-mRNA processing factor 18	196					mRNA processing|RNA splicing	nuclear speck|spliceosomal complex				central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(5)|prostate(1)	17						TTTCAACAGTTTCTTCTTGGCGT	0.429													16	72	---	---	---	---						-	13655744	TTC	-	13655742	8	5	282	1	0	1	0	1	0	0	1	0	12615	1855	64	0	607	0	PRPF18	10	13655742	Splice_Site	DEL	TTC	TCGA-HT-7875-01A-11D-2395-08		13655742	121879005	30	28420											
OR5D18	219438	broad.mit.edu	37	11	55587463	55587463	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7875-01A-11D-2395-08	TCGA-HT-7875-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c82b3e-cb3a-4e3b-8805-09887d6cf639	3b415304-5b67-40c9-96a3-45e5731b194c	g.chr11:55587463G>A	ENST00000333976.4	+	1	378	c.358G>A	c.(358-360)Gcc>Acc	p.A120T		NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D, member 18	120					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				AGCTGTGATGGCCTATGACCG	0.453													6	212					0	0	1	0	0	A	55587463	G	A	55587463	3	1	282	1	0	0	0	0	1	0	0	0	11204	1203	42	2	360	2	OR5D18	11	55587463	Missense_Mutation	SNP	G	TCGA-HT-7875-01A-11D-2395-08		55587463	79419053	31	28421											
OR1S1	219959	broad.mit.edu	37	11	57982884	57982884	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7875-01A-11D-2395-08	TCGA-HT-7875-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c82b3e-cb3a-4e3b-8805-09887d6cf639	3b415304-5b67-40c9-96a3-45e5731b194c	g.chr11:57982884C>T	ENST00000309433.6	+	1	668	c.668C>T	c.(667-669)cCc>cTc	p.P223L		NM_001004458.1	NP_001004458.1	Q8NH92	OR1S1_HUMAN	olfactory receptor, family 1, subfamily S, member 1	223					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(24)|kidney(1)|large_intestine(1)|liver(1)|lung(10)|prostate(1)|skin(2)|stomach(3)|urinary_tract(3)	48		Breast(21;0.0589)				ATCATCTTCCCCTTTACACTC	0.443													8	97					0	0	1	0	0	T	57982884	C	T	57982884	3	4	282	1	0	0	0	0	1	0	0	0	11020	623	22	2	670	2	OR1S1	11	57982884	Missense_Mutation	SNP	C	TCGA-HT-7875-01A-11D-2395-08	2395421	57982884	77023632	32	28422											
FUT4	2526	broad.mit.edu	37	11	94278274	94278274	+	Silent	SNP	C	C	T			TCGA-HT-7875-01A-11D-2395-08	TCGA-HT-7875-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c82b3e-cb3a-4e3b-8805-09887d6cf639	3b415304-5b67-40c9-96a3-45e5731b194c	g.chr11:94278274C>T	ENST00000358752.2	+	1	1258	c.975C>T	c.(973-975)gaC>gaT	p.D325D		NM_002033.3	NP_002024.1	P22083	FUT4_HUMAN	fucosyltransferase 4 (alpha (1,3) fucosyltransferase, myeloid-specific)	325					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane|membrane fraction	alpha(1,3)-fucosyltransferase activity			central_nervous_system(2)|endometrium(2)|lung(1)|skin(2)|upper_aerodigestive_tract(1)	8		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				CGGACTCGGACGTCTTTGTGC	0.647													24	61					0	0	1	0	0	T	94278274	C	T	94278274	2	4	282	1	0	0	0	0	0	0	0	1	6141	535	19	1		1	FUT4	11	94278274	Silent	SNP	C	TCGA-HT-7875-01A-11D-2395-08	36295390	94278274	40728242	33	28423											
TRPC6	7225	broad.mit.edu	37	11	101342947	101342947	+	Missense_Mutation	SNP	C	C	A			TCGA-HT-7875-01A-11D-2395-08	TCGA-HT-7875-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c82b3e-cb3a-4e3b-8805-09887d6cf639	3b415304-5b67-40c9-96a3-45e5731b194c	g.chr11:101342947C>A	ENST00000344327.3	-	8	2550	c.2126G>T	c.(2125-2127)gGa>gTa	p.G709V	TRPC6_ENST00000532133.1_Missense_Mutation_p.G631V|TRPC6_ENST00000360497.4_Missense_Mutation_p.G654V|TRPC6_ENST00000348423.4_Missense_Mutation_p.G593V	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel, subfamily C, member 6	709					axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		ATTATAGACTCCATAAAGAAC	0.328													4	85					0.00909568	0.00922028	1	1	0	A	101342947	C	A	101342947	3	1	282	1	0	0	0	0	1	0	0	0	16644	855	30	5	693	5	TRPC6	11	101342947	Missense_Mutation	SNP	C	TCGA-HT-7875-01A-11D-2395-08	7064673	101342947	33663569	34	28424											
NCAM1	4684	broad.mit.edu	37	11	113126648	113126649	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-HT-7875-01A-11D-2395-08	TCGA-HT-7875-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c82b3e-cb3a-4e3b-8805-09887d6cf639	3b415304-5b67-40c9-96a3-45e5731b194c	g.chr11:113126648_113126649delCT	ENST00000316851.7	+	14	1848_1849	c.1848_1849delCT	c.(1846-1851)aactctfs	p.S617fs	NCAM1_ENST00000533760.1_Frame_Shift_Del_p.S499fs|NCAM1_ENST00000397957.4_3'UTR	NM_001242607.1|NM_181351.4	NP_001229536.1|NP_851996.2	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1	627	Fibronectin type-III 2.				axon guidance|interferon-gamma-mediated signaling pathway	anchored to membrane|extracellular region|Golgi membrane|integral to membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		AGGATGGAAACTCTATTAAAGT	0.5													12	17	---	---	---	---						-	113126649	CT	-	113126648	7	5	282	1	0	1	0	1	0	0	0	0	10249	564	20	0	2054	0	NCAM1	11	113126648	Frame_Shift_Del	DEL	CT	TCGA-HT-7875-01A-11D-2395-08	11783701	113126648	21879868	35	28425											
PHLDB1	23187	broad.mit.edu	37	11	118499068	118499068	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7875-01A-11D-2395-08	TCGA-HT-7875-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c82b3e-cb3a-4e3b-8805-09887d6cf639	3b415304-5b67-40c9-96a3-45e5731b194c	g.chr11:118499068G>A	ENST00000361417.2	+	7	1940	c.1529G>A	c.(1528-1530)gGg>gAg	p.G510E	PHLDB1_ENST00000356063.5_Missense_Mutation_p.G510E	NM_015157.3	NP_055972.1	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B, member 1	510										breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		CTGACGCTGGGGGCACGGGGC	0.662													4	39					0	0	1	0	0	A	118499068	G	A	118499068	3	1	282	1	0	0	0	0	1	0	0	0	11899	1232	43	2	1547	2	PHLDB1	11	118499068	Missense_Mutation	SNP	G	TCGA-HT-7875-01A-11D-2395-08	5372420	118499068	16507448	36	28426											
TAS2R13	50838	broad.mit.edu	37	12	11061883	11061883	+	Silent	SNP	C	C	T			TCGA-HT-7875-01A-11D-2395-08	TCGA-HT-7875-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c82b3e-cb3a-4e3b-8805-09887d6cf639	3b415304-5b67-40c9-96a3-45e5731b194c	g.chr12:11061883C>T	ENST00000390677.2	-	1	278	c.15G>A	c.(13-15)ctG>ctA	p.L5L	PRR4_ENST00000536668.1_Intron	NM_023920.2	NP_076409.1	Q9NYV9	T2R13_HUMAN	taste receptor, type 2, member 13	5					sensory perception of taste	integral to membrane	taste receptor activity			breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1)	9						AGATACTCGGCAGGGCACTTT	0.383													7	41					0	0	1	0	0	T	11061883	C	T	11061883	2	4	282	1	0	0	0	0	0	0	0	1	15624	697	25	2		2	TAS2R13	12	11061883	Silent	SNP	C	TCGA-HT-7875-01A-11D-2395-08		11061883	122790012	37	28427											
PRICKLE1	144165	broad.mit.edu	37	12	42860093	42860093	+	Silent	SNP	T	T	A			TCGA-HT-7875-01A-11D-2395-08	TCGA-HT-7875-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c82b3e-cb3a-4e3b-8805-09887d6cf639	3b415304-5b67-40c9-96a3-45e5731b194c	g.chr12:42860093T>A	ENST00000455697.1	-	6	963	c.678A>T	c.(676-678)ggA>ggT	p.G226G	PRICKLE1_ENST00000548696.1_Silent_p.G226G|PRICKLE1_ENST00000445766.2_Silent_p.G226G|PRICKLE1_ENST00000552240.1_Silent_p.G226G|PRICKLE1_ENST00000345127.3_Silent_p.G226G	NM_001144882.1|NM_001144883.1	NP_001138354.1|NP_001138355.1	Q96MT3	PRIC1_HUMAN	prickle homolog 1 (Drosophila)	226	LIM zinc-binding 2.				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein import into nucleus	cytosol|nuclear membrane	zinc ion binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(13)|ovary(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	47	all_cancers(12;4.25e-05)|Breast(8;0.176)			GBM - Glioblastoma multiforme(48;0.2)		ACCTCTGTCCTCCCAGGACCG	0.488													10	82					0	0	1	0	0	A	42860093	T	A	42860093	2	1	282	1	0	0	0	0	0	0	0	1	12538	1538	54	5		5	PRICKLE1	12	42860093	Silent	SNP	T	TCGA-HT-7875-01A-11D-2395-08	31798210	42860093	90991802	38	28428											
DCTN2	10540	broad.mit.edu	37	12	57928086	57928086	+	Silent	SNP	G	G	A			TCGA-HT-7875-01A-11D-2395-08	TCGA-HT-7875-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c82b3e-cb3a-4e3b-8805-09887d6cf639	3b415304-5b67-40c9-96a3-45e5731b194c	g.chr12:57928086G>A	ENST00000548249.1	-	6	780	c.513C>T	c.(511-513)ggC>ggT	p.G171G	DCTN2_ENST00000434715.3_Silent_p.G176G|DCTN2_ENST00000543672.1_Silent_p.G176G|DCTN2_ENST00000537439.1_Silent_p.G148G	NM_001261412.1|NM_001261413.1	NP_001248341.1|NP_001248342.1	Q13561	DCTN2_HUMAN	dynactin 2 (p50)	171					cell proliferation|G2/M transition of mitotic cell cycle|mitosis	centrosome|cytosol|dynactin complex|dynein complex|kinetochore|membrane|microtubule|vesicle	motor activity|protein binding			endometrium(1)|large_intestine(4)|lung(2)|ovary(2)|upper_aerodigestive_tract(2)	11						TAGCCAGGGCGCCATCGGGGT	0.562													5	103					0	0	1	0	0	A	57928086	G	A	57928086	2	1	282	1	0	0	0	0	0	0	0	1	4330	1074	38	1		1	DCTN2	12	57928086	Silent	SNP	G	TCGA-HT-7875-01A-11D-2395-08	15067993	57928086	75923809	39	28429											
ZMYM2	7750	broad.mit.edu	37	13	20577051	20577052	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-HT-7875-01A-11D-2395-08	TCGA-HT-7875-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c82b3e-cb3a-4e3b-8805-09887d6cf639	3b415304-5b67-40c9-96a3-45e5731b194c	g.chr13:20577051_20577052delTT	ENST00000382869.3	+	4	1160_1161	c.909_910delTT	c.(907-912)tctttafs	p.L304fs	ZMYM2_ENST00000382871.2_Frame_Shift_Del_p.L304fs|ZMYM2_ENST00000382881.3_Frame_Shift_Del_p.L217fs|ZMYM2_ENST00000382874.2_Frame_Shift_Del_p.L304fs	NM_001190965.1|NM_003453.3|NM_197968.2	NP_001177894.1|NP_003444.1|NP_932072.1	Q9UBW7	ZMYM2_HUMAN	zinc finger, MYM-type 2	304				L -> V (in Ref. 4; CAB66556).	regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	ubiquitin conjugating enzyme binding|zinc ion binding			large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10		all_cancers(29;8.65e-21)|all_epithelial(30;1.04e-18)|all_lung(29;6.75e-18)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;0.000148)|Epithelial(112;0.000249)|OV - Ovarian serous cystadenocarcinoma(117;0.00816)|Lung(94;0.0173)|LUSC - Lung squamous cell carcinoma(192;0.0856)		GGGTGGACTCTTTATCACCAGT	0.421													100	109	---	---	---	---						-	20577052	TT	-	20577051	7	5	282	1	0	1	0	1	0	0	0	0	17758	1596	56	0	915	0	ZMYM2	13	20577051	Frame_Shift_Del	DEL	TT	TCGA-HT-7875-01A-11D-2395-08		20577051	94592827	40	28430											
GPR68	8111	broad.mit.edu	37	14	91700786	91700786	+	Silent	SNP	C	C	T			TCGA-HT-7875-01A-11D-2395-08	TCGA-HT-7875-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c82b3e-cb3a-4e3b-8805-09887d6cf639	3b415304-5b67-40c9-96a3-45e5731b194c	g.chr14:91700786C>T	ENST00000535815.1	-	2	949	c.609G>A	c.(607-609)gcG>gcA	p.A203A	GPR68_ENST00000238699.3_Silent_p.A213A|GPR68_ENST00000531499.2_Silent_p.A203A	NM_001177676.1	NP_001171147.1	Q15743	OGR1_HUMAN	G protein-coupled receptor 68	203					inflammatory response	integral to plasma membrane	G-protein coupled receptor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|lung(2)|skin(1)|urinary_tract(1)	8		all_cancers(154;0.0555)		COAD - Colon adenocarcinoma(157;0.21)		CCTGGTAGGACGCCAGCAGCA	0.652													9	29					0	0	1	0	0	T	91700786	C	T	91700786	2	4	282	1	0	0	0	0	0	0	0	1	6747	523	19	1		1	GPR68	14	91700786	Silent	SNP	C	TCGA-HT-7875-01A-11D-2395-08		91700786	15648754	41	28431											
TCF12	6938	broad.mit.edu	37	15	57526268	57526269	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-HT-7875-01A-11D-2395-08	TCGA-HT-7875-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c82b3e-cb3a-4e3b-8805-09887d6cf639	3b415304-5b67-40c9-96a3-45e5731b194c	g.chr15:57526268_57526269delCA	ENST00000267811.5	+	12	1302_1303	c.998_999delCA	c.(997-999)tcafs	p.S333fs	TCF12_ENST00000560764.1_3'UTR|TCF12_ENST00000333725.5_Frame_Shift_Del_p.S333fs|TCF12_ENST00000537840.1_Frame_Shift_Del_p.S97fs|TCF12_ENST00000343827.3_Frame_Shift_Del_p.S163fs|TCF12_ENST00000438423.2_Frame_Shift_Del_p.S333fs|TCF12_ENST00000543579.1_Frame_Shift_Del_p.S163fs|TCF12_ENST00000452095.2_Frame_Shift_Del_p.S329fs|TCF12_ENST00000557843.1_Frame_Shift_Del_p.S333fs	NM_003205.3|NM_207038.1	NP_003196.1|NP_996921.1	Q99081	HTF4_HUMAN	transcription factor 12	333					immune response|muscle organ development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity		TCF12/NR4A3(2)	breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	36		Colorectal(260;0.0907)		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)		GCTGGAAGCTCACAGACAGGTG	0.356			T	TEC	extraskeletal myxoid chondrosarcoma								15	59	---	---	---	---						-	57526269	CA	-	57526268	7	5	282	1	0	1	0	1	0	0	0	0	15747	838	29	0	1113	0	TCF12	15	57526268	Frame_Shift_Del	DEL	CA	TCGA-HT-7875-01A-11D-2395-08		57526268	45005124	42	28432											
TCF12	6938	broad.mit.edu	37	15	57565414	57565416	+	In_Frame_Del	DEL	TCA	TCA	-			TCGA-HT-7875-01A-11D-2395-08	TCGA-HT-7875-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c82b3e-cb3a-4e3b-8805-09887d6cf639	3b415304-5b67-40c9-96a3-45e5731b194c	g.chr15:57565414_57565416delTCA	ENST00000267811.5	+	18	2164_2166	c.1860_1862delTCA	c.(1858-1863)cttcat>ctt	p.H621del	TCF12_ENST00000559703.1_In_Frame_Del_p.H278del|TCF12_ENST00000559710.1_In_Frame_Del_p.H255del|TCF12_ENST00000333725.5_In_Frame_Del_p.H645del|TCF12_ENST00000537840.1_In_Frame_Del_p.H385del|TCF12_ENST00000343827.3_In_Frame_Del_p.H451del|TCF12_ENST00000438423.2_In_Frame_Del_p.H645del|TCF12_ENST00000543579.1_In_Frame_Del_p.H475del|TCF12_ENST00000452095.2_In_Frame_Del_p.H641del|TCF12_ENST00000557843.1_In_Frame_Del_p.H621del	NM_003205.3|NM_207038.1	NP_003196.1|NP_996921.1	Q99081	HTF4_HUMAN	transcription factor 12	621	Helix-loop-helix motif.				immune response|muscle organ development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity		TCF12/NR4A3(2)	breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	36		Colorectal(260;0.0907)		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)		TCCTTATTCTTCATCAAGCCGTG	0.448			T	TEC	extraskeletal myxoid chondrosarcoma								39	21	---	---	---	---						-	57565416	TCA	-	57565414	7	5	282	1	0	1	0	1	0	0	0	0	15747	1770	62	0	2075	0	TCF12	15	57565414	In_Frame_Del	DEL	TCA	TCGA-HT-7875-01A-11D-2395-08	39146	57565414	44965978	43	28433											
ITGAL	3683	broad.mit.edu	37	16	30485546	30485546	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7875-01A-11D-2395-08	TCGA-HT-7875-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c82b3e-cb3a-4e3b-8805-09887d6cf639	3b415304-5b67-40c9-96a3-45e5731b194c	g.chr16:30485546C>T	ENST00000356798.6	+	2	271	c.91C>T	c.(91-93)Cgg>Tgg	p.R31W	ITGAL_ENST00000358164.5_Missense_Mutation_p.R31W|ITGAL_ENST00000454514.2_Missense_Mutation_p.R31W|ITGAL_ENST00000433423.2_Missense_Mutation_p.R31W	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	31					blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	integrin complex	cell adhesion molecule binding|receptor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Efalizumab(DB00095)	CCTGGACGTGCGGGGCGCGCG	0.706													7	15					0	0	1	0	0	T	30485546	C	T	30485546	3	4	282	1	0	0	0	0	1	0	0	0	7930	759	27	1	97	1	ITGAL	16	30485546	Missense_Mutation	SNP	C	TCGA-HT-7875-01A-11D-2395-08		30485546	59869207	44	28434											
ZNF689	115509	broad.mit.edu	37	16	30616099	30616101	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-HT-7875-01A-11D-2395-08	TCGA-HT-7875-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c82b3e-cb3a-4e3b-8805-09887d6cf639	3b415304-5b67-40c9-96a3-45e5731b194c	g.chr16:30616099_30616101delGAG	ENST00000287461.3	-	3	1324_1326	c.987_989delCTC	c.(985-990)tcctct>tct	p.329_330SS>S	RP11-146F11.5_ENST00000563540.1_RNA|ZNF689_ENST00000566673.1_5'UTR	NM_138447.1	NP_612456.1	Q96CS4	ZN689_HUMAN	zinc finger protein 689	329					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(1)	14			Colorectal(24;0.198)			GACCAGGCGAGAGGAGGAGGAGA	0.7													14	39	---	---	---	---						-	30616101	GAG	-	30616099	7	5	282	1	0	1	0	1	0	0	0	0	18150	942	33	0	517	0	ZNF689	16	30616099	In_Frame_Del	DEL	GAG	TCGA-HT-7875-01A-11D-2395-08	130553	30616099	59738654	45	28435											
BCMO1	53630	broad.mit.edu	37	16	81324040	81324040	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7875-01A-11D-2395-08	TCGA-HT-7875-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c82b3e-cb3a-4e3b-8805-09887d6cf639	3b415304-5b67-40c9-96a3-45e5731b194c	g.chr16:81324040C>T	ENST00000258168.2	+	11	1963	c.1502C>T	c.(1501-1503)gCc>gTc	p.A501V	BCMO1_ENST00000425577.2_Missense_Mutation_p.A432V	NM_017429.2	NP_059125.2	Q9HAY6	BCDO1_HUMAN	beta-carotene 15,15'-monooxygenase 1	501					retinoid metabolic process|steroid metabolic process	cytosol	beta-carotene 15,15'-monooxygenase activity|metal ion binding|monooxygenase activity			breast(2)|endometrium(1)|large_intestine(4)|lung(9)|prostate(3)|skin(3)|stomach(1)	23						ACGGAATTGGCCCGTGCCTCT	0.458													4	126					0	0	1	0	0	T	81324040	C	T	81324040	3	4	282	1	0	0	0	0	1	0	0	0	1382	739	26	2	1544	2	BCMO1	16	81324040	Missense_Mutation	SNP	C	TCGA-HT-7875-01A-11D-2395-08	50707941	81324040	9030713	46	28436											
MED1	5469	broad.mit.edu	37	17	37565972	37565972	+	Silent	SNP	T	T	A			TCGA-HT-7875-01A-11D-2395-08	TCGA-HT-7875-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c82b3e-cb3a-4e3b-8805-09887d6cf639	3b415304-5b67-40c9-96a3-45e5731b194c	g.chr17:37565972T>A	ENST00000300651.6	-	17	2725	c.2502A>T	c.(2500-2502)ccA>ccT	p.P834P	MED1_ENST00000394287.3_Intron	NM_004774.3	NP_004765.2	Q15648	MED1_HUMAN	mediator complex subunit 1	834	Interaction with ESR1.				androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		GATCAGTGTATGGATTTTCAT	0.433										HNSCC(31;0.082)			20	84					0	0	1	0	0	A	37565972	T	A	37565972	2	1	282	1	0	0	0	0	0	0	0	1	9475	1451	51	4		4	MED1	17	37565972	Silent	SNP	T	TCGA-HT-7875-01A-11D-2395-08		37565972	43629238	47	28437											
SMURF2	64750	broad.mit.edu	37	17	62574689	62574689	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7875-01A-11D-2395-08	TCGA-HT-7875-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c82b3e-cb3a-4e3b-8805-09887d6cf639	3b415304-5b67-40c9-96a3-45e5731b194c	g.chr17:62574689T>C	ENST00000262435.9	-	9	965	c.778A>G	c.(778-780)Agg>Ggg	p.R260G	SMURF2_ENST00000578200.1_Intron	NM_022739.3	NP_073576.1	Q9HAU4	SMUF2_HUMAN	SMAD specific E3 ubiquitin protein ligase 2	260	WW 2.				BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of transforming growth factor beta receptor signaling pathway|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent SMAD protein catabolic process	cytosol|membrane raft|nucleus|plasma membrane|ubiquitin ligase complex	identical protein binding|SMAD binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(4)	22	Breast(5;1.32e-14)		BRCA - Breast invasive adenocarcinoma(8;9.88e-12)			TGCGTTGTCCTCTGTTCTGTA	0.373													15	26					0	0	1	0	0	C	62574689	T	C	62574689	3	2	282	1	0	0	0	0	1	0	0	0	14874	1550	54	3	1512	3	SMURF2	17	62574689	Missense_Mutation	SNP	T	TCGA-HT-7875-01A-11D-2395-08	25008717	62574689	18620521	48	28438											
CIC	23152	broad.mit.edu	37	19	42796331	42796331	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HT-7875-01A-11D-2395-08	TCGA-HT-7875-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c82b3e-cb3a-4e3b-8805-09887d6cf639	3b415304-5b67-40c9-96a3-45e5731b194c	g.chr19:42796331C>T	ENST00000572681.2	+	13	5775	c.5707C>T	c.(5707-5709)Cag>Tag	p.Q1903*	CIC_ENST00000575354.2_Nonsense_Mutation_p.Q994*|CIC_ENST00000160740.3_Nonsense_Mutation_p.Q994*			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	994					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	p.Q994*(1)		autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CTCTCAGCCTCAGAAGGTCCT	0.662			"Mis, F, S"		oligodendroglioma								24	38					0	0	1	0	0	T	42796331	C	T	42796331	4	4	282	1	0	0	0	0	0	1	0	0	3446	827	29	2	3026	2	CIC	19	42796331	Nonsense_Mutation	SNP	C	TCGA-HT-7875-01A-11D-2395-08		42796331	16332652	49	28439											
CIC	23152	broad.mit.edu	37	19	42796905	42796906	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-HT-7875-01A-11D-2395-08	TCGA-HT-7875-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c82b3e-cb3a-4e3b-8805-09887d6cf639	3b415304-5b67-40c9-96a3-45e5731b194c	g.chr19:42796905_42796906delTG	ENST00000572681.2	+	15	6155_6156	c.6087_6088delTG	c.(6085-6090)actgtgfs	p.V2030fs	CIC_ENST00000575354.2_Frame_Shift_Del_p.V1122fs|CIC_ENST00000160740.3_Frame_Shift_Del_p.V1121fs			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	1122					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				TGGTCTACACTGTGGCCACCAG	0.668			"Mis, F, S"		oligodendroglioma								19	79	---	---	---	---						-	42796906	TG	-	42796905	7	5	282	1	0	1	0	1	0	0	0	0	3446	1567	55	0	3417	0	CIC	19	42796905	Frame_Shift_Del	DEL	TG	TCGA-HT-7875-01A-11D-2395-08	574	42796905	16332078	50	28440											
CBLC	23624	broad.mit.edu	37	19	45281321	45281321	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7875-01A-11D-2395-08	TCGA-HT-7875-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c82b3e-cb3a-4e3b-8805-09887d6cf639	3b415304-5b67-40c9-96a3-45e5731b194c	g.chr19:45281321C>T	ENST00000270279.3	+	1	196	c.133C>T	c.(133-135)Cgg>Tgg	p.R45W	CBLC_ENST00000341505.4_Missense_Mutation_p.R45W	NM_012116.3	NP_036248.3	Q9ULV8	CBLC_HUMAN	Cbl proto-oncogene C, E3 ubiquitin protein ligase	45	4H.|Cbl-PTB.				cell surface receptor linked signaling pathway|negative regulation of epidermal growth factor receptor activity|negative regulation of MAP kinase activity|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	calcium ion binding|epidermal growth factor receptor binding|phosphotyrosine binding|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|kidney(1)|lung(6)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Lung NSC(12;0.00136)|all_lung(12;0.00371)	Ovarian(192;0.231)				CCCTTCGCTGCGGGACCTGCT	0.746			M		AML								5	45					0	0	1	0	0	T	45281321	C	T	45281321	3	4	282	1	0	0	0	0	1	0	0	0	2720	759	27	1	135	1	CBLC	19	45281321	Missense_Mutation	SNP	C	TCGA-HT-7875-01A-11D-2395-08	2484416	45281321	13847662	51	28441											
BAGE2	85319	broad.mit.edu	37	21	11038807	11038807	+	RNA	SNP	T	T	A			TCGA-HT-7875-01A-11D-2395-08	TCGA-HT-7875-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c82b3e-cb3a-4e3b-8805-09887d6cf639	3b415304-5b67-40c9-96a3-45e5731b194c	g.chr21:11038807T>A	ENST00000470054.1	-	0	1396									B melanoma antigen family, member 2															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)		TTGGAGTGACTGAGATGTAAG	0.428													5	328					0	0	1	0	0	A	11038807	T	A	11038807	1	1	282	0	1	0	0	0	0	0	0	0	1290	1595	55	5		5	BAGE2	21	11038807	RNA	SNP	T	TCGA-HT-7875-01A-11D-2395-08		11038807	37091088	52	28442											
SMARCB1	6598	broad.mit.edu	37	22	24176338	24176338	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7875-01A-11D-2395-08	TCGA-HT-7875-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c82b3e-cb3a-4e3b-8805-09887d6cf639	3b415304-5b67-40c9-96a3-45e5731b194c	g.chr22:24176338C>T	ENST00000344921.6	+	9	1363	c.1156C>T	c.(1156-1158)Cgt>Tgt	p.R386C	SMARCB1_ENST00000263121.7_Missense_Mutation_p.R377C|SMARCB1_ENST00000407082.3_Missense_Mutation_p.R331C|SMARCB1_ENST00000407422.3_Missense_Mutation_p.R368C			Q12824	SNF5_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1	377					cell cycle|chromatin remodeling|DNA integration|interspecies interaction between organisms|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|retroviral genome replication|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleolus|nucleoplasm|SWI/SNF complex	p53 binding	p.?(2)|p.L266_*386del(1)		bone(4)|central_nervous_system(198)|endometrium(4)|haematopoietic_and_lymphoid_tissue(25)|kidney(3)|large_intestine(5)|liver(2)|lung(5)|meninges(5)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|soft_tissue(194)	458		Medulloblastoma(6;2.2e-09)|all_neural(6;2.73e-05)				GCGGATGAGGCGTCTTGCCAA	0.647			"D, N, F, S"		malignant rhabdoid	malignant rhabdoid							3	8					0	0	1	0	0	T	24176338	C	T	24176338	3	4	282	1	0	0	0	0	1	0	0	0	14828	768	27	1	1163	1	SMARCB1	22	24176338	Missense_Mutation	SNP	C	TCGA-HT-7875-01A-11D-2395-08		24176338	27128228	53	28443											
XPNPEP3	63929	broad.mit.edu	37	22	41322384	41322384	+	Missense_Mutation	SNP	C	C	T	rs144166618		TCGA-HT-7875-01A-11D-2395-08	TCGA-HT-7875-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c82b3e-cb3a-4e3b-8805-09887d6cf639	3b415304-5b67-40c9-96a3-45e5731b194c	g.chr22:41322384C>T	ENST00000357137.4	+	10	1553	c.1469C>T	c.(1468-1470)gCa>gTa	p.A490V	XPNPEP3_ENST00000544094.1_Missense_Mutation_p.A467V	NM_022098.3	NP_071381.1	Q9NQH7	XPP3_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 3, putative	490					cellular process	mitochondrion	aminopeptidase activity|manganese ion binding|metallopeptidase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	17						ATCCTTTCTGCAGACTGTCCC	0.498													5	231					0	0	1	0	0	T	41322384	C	T	41322384	3	4	282	1	0	0	0	0	1	0	0	0	17504	710	25	2	1507	2	XPNPEP3	22	41322384	Missense_Mutation	SNP	C	TCGA-HT-7875-01A-11D-2395-08	17146046	41322384	9982182	54	28444											
GPR25	2848	broad.mit.edu	37	1	200842872	200842872	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-7877-01A-11D-2395-08	TCGA-HT-7877-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dc115c-4c2c-4f45-bc8b-09bb9562cdce	44355458-1ec3-4e6b-bae8-e1a7642e03ce	g.chr1:200842872G>T	ENST00000304244.2	+	1	790	c.707G>T	c.(706-708)gGt>gTt	p.G236V		NM_005298.2	NP_005289.2	O00155	GPR25_HUMAN	G protein-coupled receptor 25	236						integral to plasma membrane				large_intestine(1)|lung(2)|ovary(1)|skin(1)	5						CCGCACGTGGGTCGGGCCCGG	0.682													6	95					0.0293803	0.0303935	1	1	0	T	200842872	G	T	200842872	3	4	283	1	0	0	0	0	1	0	0	0	6723	1261	44	5	709	5	GPR25	1	200842872	Missense_Mutation	SNP	G	TCGA-HT-7877-01A-11D-2395-08		200842872	48407749	1	28445											
SNRNP200	23020	broad.mit.edu	37	2	96959095	96959116	+	Frame_Shift_Del	DEL	TAGAAAGGTGGCTACATCTTCA	TAGAAAGGTGGCTACATCTTCA	-			TCGA-HT-7877-01A-11D-2395-08	TCGA-HT-7877-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dc115c-4c2c-4f45-bc8b-09bb9562cdce	44355458-1ec3-4e6b-bae8-e1a7642e03ce	g.chr2:96959095_96959116delTAGAAAGGTGGCTACATCTTCA	ENST00000323853.5	-	15	2051_2072	c.1974_1995delTGAAGATGTAGCCACCTTTCTA	c.(1972-1995)tatgaagatgtagccacctttctafs	p.YEDVATFL658fs	SNRNP200_ENST00000349783.5_Intron	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	658	Helicase ATP-binding 1.					catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						GGTCAACACGTAGAAAGGTGGCTACATCTTCATAGTTGGGTA	0.495													17	114	---	---	---	---						-	96959116	TAGAAAGGTGGCTACATCTTCA	-	96959095	7	5	283	1	0	1	0	1	0	0	0	0	14906	1625	57	0	4539	0	SNRNP200	2	96959095	Frame_Shift_Del	DEL	TAGAAAGGTGGCTACATCTTCA	TCGA-HT-7877-01A-11D-2395-08		96959095	146240278	2	28446											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-HT-7877-01A-11D-2395-08	TCGA-HT-7877-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dc115c-4c2c-4f45-bc8b-09bb9562cdce	44355458-1ec3-4e6b-bae8-e1a7642e03ce	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	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								21	24					0	0	1	0	0	T	209113112	C	T	209113112	3	4	283	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HT-7877-01A-11D-2395-08	112154017	209113112	34086261	3	28447											
NIPAL1	152519	broad.mit.edu	37	4	48037778	48037778	+	Silent	SNP	G	G	T			TCGA-HT-7877-01A-11D-2395-08	TCGA-HT-7877-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dc115c-4c2c-4f45-bc8b-09bb9562cdce	44355458-1ec3-4e6b-bae8-e1a7642e03ce	g.chr4:48037778G>T	ENST00000295461.5	+	6	888	c.822G>T	c.(820-822)ccG>ccT	p.P274P		NM_207330.1	NP_997213.1	Q6NVV3	NIPA3_HUMAN	NIPA-like domain containing 1	274						integral to membrane				endometrium(2)|large_intestine(1)|lung(3)|skin(2)	8						ACAAACATCCGCTGGTCTTTG	0.428													4	60					1	1	1	1	0	T	48037778	G	T	48037778	2	4	283	1	0	0	0	0	0	0	0	1	10471	1074	38	5		5	NIPAL1	4	48037778	Silent	SNP	G	TCGA-HT-7877-01A-11D-2395-08		48037778	143116498	4	28448											
AARS2	57505	broad.mit.edu	37	6	44270856	44270856	+	Silent	SNP	C	C	T			TCGA-HT-7877-01A-11D-2395-08	TCGA-HT-7877-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dc115c-4c2c-4f45-bc8b-09bb9562cdce	44355458-1ec3-4e6b-bae8-e1a7642e03ce	g.chr6:44270856C>T	ENST00000244571.4	-	16	2204	c.2202G>A	c.(2200-2202)ttG>ttA	p.L734L	RP11-444E17.6_ENST00000505802.1_Intron|TMEM151B_ENST00000438774.2_Intron	NM_020745.3	NP_065796	Q5JTZ9	SYAM_HUMAN	alanyl-tRNA synthetase 2, mitochondrial	734					alanyl-tRNA aminoacylation	mitochondrion	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(2)|stomach(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		L-Alanine(DB00160)	AGGCTGGGTCCAATGCATGGG	0.627													6	83					0	0	1	0	0	T	44270856	C	T	44270856	2	4	283	1	0	0	0	0	0	0	0	1	20	593	21	2		2	AARS2	6	44270856	Silent	SNP	C	TCGA-HT-7877-01A-11D-2395-08		44270856	126844211	5	28449											
IDE	3416	broad.mit.edu	37	10	94333744	94333744	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HT-7877-01A-11D-2395-08	TCGA-HT-7877-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dc115c-4c2c-4f45-bc8b-09bb9562cdce	44355458-1ec3-4e6b-bae8-e1a7642e03ce	g.chr10:94333744delG	ENST00000265986.6	-	1	89	c.33delC	c.(31-33)cccfs	p.P11fs		NM_004969.3	NP_004960.2	P14735	IDE_HUMAN	insulin-degrading enzyme	11					beta-amyloid metabolic process|bradykinin catabolic process|interspecies interaction between organisms|sex differentiation	cell surface|extracellular space|soluble fraction	ATP binding|metalloendopeptidase activity|protein homodimerization activity|signal transducer activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|urinary_tract(2)	33					Bacitracin(DB00626)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TGGGCAGTGCGGGGTGCAGAA	0.716													2	4	---	---	---	---						-	94333744	G	-	94333744	7	5	283	1	0	1	0	1	0	0	0	0	7537	1103	39	0	3126	0	IDE	10	94333744	Frame_Shift_Del	DEL	G	TCGA-HT-7877-01A-11D-2395-08		94333744	41201003	6	28450											
ARHGDIB	397	broad.mit.edu	37	12	15095522	15095522	+	Silent	SNP	G	G	A			TCGA-HT-7877-01A-11D-2395-08	TCGA-HT-7877-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dc115c-4c2c-4f45-bc8b-09bb9562cdce	44355458-1ec3-4e6b-bae8-e1a7642e03ce	g.chr12:15095522G>A	ENST00000228945.4	-	6	684	c.540C>T	c.(538-540)gaC>gaT	p.D180D	ARHGDIB_ENST00000541546.1_Silent_p.D180D|ARHGDIB_ENST00000541644.1_Silent_p.D180D|ARHGDIB_ENST00000539131.1_5'UTR	NM_001175.4	NP_001166.3	P52566	GDIR2_HUMAN	Rho GDP dissociation inhibitor (GDI) beta	180					actin cytoskeleton organization|cellular component movement|immune response|multicellular organismal development|negative regulation of cell adhesion|regulation of small GTPase mediated signal transduction|Rho protein signal transduction	cytoplasmic membrane-bounded vesicle|cytoskeleton|cytosol	GTPase activator activity|Rho GDP-dissociation inhibitor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	15						GCTTGTCATCGTCGGTGAAGA	0.567													63	142					0	0	1	0	0	A	15095522	G	A	15095522	2	1	283	1	0	0	0	0	0	0	0	1	888	1136	40	1		1	ARHGDIB	12	15095522	Silent	SNP	G	TCGA-HT-7877-01A-11D-2395-08		15095522	118756373	7	28451											
MYO1A	4640	broad.mit.edu	37	12	57423554	57423554	+	Silent	SNP	G	G	A			TCGA-HT-7877-01A-11D-2395-08	TCGA-HT-7877-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dc115c-4c2c-4f45-bc8b-09bb9562cdce	44355458-1ec3-4e6b-bae8-e1a7642e03ce	g.chr12:57423554G>A	ENST00000442789.2	-	26	2981	c.2694C>T	c.(2692-2694)gcC>gcT	p.A898A	MYO1A_ENST00000544473.1_Silent_p.A736A|MYO1A_ENST00000300119.3_Silent_p.A898A	NM_001256041.1	NP_001242970.1	Q9UBC5	MYO1A_HUMAN	myosin IA	898					sensory perception of sound|vesicle localization	brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						CCTTCTTCACGGCCTCTGCCA	0.587													14	180					0	0	1	0	0	A	57423554	G	A	57423554	2	1	283	1	0	0	0	0	0	0	0	1	10116	1103	39	1		1	MYO1A	12	57423554	Silent	SNP	G	TCGA-HT-7877-01A-11D-2395-08	42328032	57423554	76428341	8	28452											
FARP1	10160	broad.mit.edu	37	13	99076871	99076871	+	Silent	SNP	C	C	T			TCGA-HT-7877-01A-11D-2395-08	TCGA-HT-7877-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dc115c-4c2c-4f45-bc8b-09bb9562cdce	44355458-1ec3-4e6b-bae8-e1a7642e03ce	g.chr13:99076871C>T	ENST00000376586.2	+	17	2208	c.1872C>T	c.(1870-1872)ggC>ggT	p.G624G	FARP1_ENST00000595437.1_Silent_p.G624G|FARP1_ENST00000319562.6_Silent_p.G624G			Q9Y4F1	FARP1_HUMAN	FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)	624	DH.				regulation of Rho protein signal transduction	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity			breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			AAAGAATCGGCGATGTCATGC	0.502													8	34					0	0	1	0	0	T	99076871	C	T	99076871	2	4	283	1	0	0	0	0	0	0	0	1	5709	755	27	1		1	FARP1	13	99076871	Silent	SNP	C	TCGA-HT-7877-01A-11D-2395-08		99076871	16093007	9	28453											
PLCB2	5330	broad.mit.edu	37	15	40590542	40590542	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7877-01A-11D-2395-08	TCGA-HT-7877-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dc115c-4c2c-4f45-bc8b-09bb9562cdce	44355458-1ec3-4e6b-bae8-e1a7642e03ce	g.chr15:40590542C>T	ENST00000260402.3	-	11	1286	c.1037G>A	c.(1036-1038)cGc>cAc	p.R346H	PLCB2_ENST00000456256.2_Missense_Mutation_p.R346H|PLCB2_ENST00000557821.1_Missense_Mutation_p.R346H	NM_001284297.1|NM_004573.2	NP_001271226.1|NP_004564.2	Q00722	PLCB2_HUMAN	phospholipase C, beta 2	346	PI-PLC X-box.				activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)		CAGCACCTGGCGGTACATCTC	0.627													40	59					0	0	1	0	0	T	40590542	C	T	40590542	3	4	283	1	0	0	0	0	1	0	0	0	12076	768	27	1	2608	1	PLCB2	15	40590542	Missense_Mutation	SNP	C	TCGA-HT-7877-01A-11D-2395-08		40590542	61940850	10	28454											
SPTBN5	51332	broad.mit.edu	37	15	42178327	42178327	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7877-01A-11D-2395-08	TCGA-HT-7877-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dc115c-4c2c-4f45-bc8b-09bb9562cdce	44355458-1ec3-4e6b-bae8-e1a7642e03ce	g.chr15:42178327C>T	ENST00000320955.6	-	7	1353	c.1126G>A	c.(1126-1128)Gca>Aca	p.A376T		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	376					actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		GCTTGGAGTGCTGTCTGTAGC	0.667													13	29					0	0	1	0	0	T	42178327	C	T	42178327	3	4	283	1	0	0	0	0	1	0	0	0	15178	797	28	2	10146	2	SPTBN5	15	42178327	Missense_Mutation	SNP	C	TCGA-HT-7877-01A-11D-2395-08	1587785	42178327	60353065	11	28455											
PER1	5187	broad.mit.edu	37	17	8047060	8047060	+	Missense_Mutation	SNP	T	T	G			TCGA-HT-7877-01A-11D-2395-08	TCGA-HT-7877-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dc115c-4c2c-4f45-bc8b-09bb9562cdce	44355458-1ec3-4e6b-bae8-e1a7642e03ce	g.chr17:8047060T>G	ENST00000317276.4	-	19	2833	c.2596A>C	c.(2596-2598)Acc>Ccc	p.T866P	PER1_ENST00000578089.1_5'UTR|PER1_ENST00000581082.1_Missense_Mutation_p.T843P	NM_002616.2	NP_002607.2	O15534	PER1_HUMAN	period circadian clock 1	866	Pro-rich.				circadian rhythm|entrainment of circadian clock|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity	p.T866P(1)		breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						GGCCAGGGGGTGGAGGGTGGC	0.667			T	ETV6	"AML, CMML"			Other conserved DNA damage response genes					6	21					0	0	1	0	0	G	8047060	T	G	8047060	3	3	283	1	0	0	0	0	1	0	0	0	11776	1696	59	5	1296	5	PER1	17	8047060	Missense_Mutation	SNP	T	TCGA-HT-7877-01A-11D-2395-08		8047060	73148150	12	28456											
VPS25	84313	broad.mit.edu	37	17	40926665	40926665	+	Splice_Site	SNP	A	A	G			TCGA-HT-7877-01A-11D-2395-08	TCGA-HT-7877-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dc115c-4c2c-4f45-bc8b-09bb9562cdce	44355458-1ec3-4e6b-bae8-e1a7642e03ce	g.chr17:40926665A>G	ENST00000253794.2	+	3	241	c.201A>G	c.(199-201)cgA>cgG	p.R67R		NM_032353.2	NP_115729.1	Q9BRG1	VPS25_HUMAN	vacuolar protein sorting 25 homolog (S. cerevisiae)	67					cellular membrane organization|endosome transport|protein transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endosome membrane|nucleoplasm				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)	5		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0745)		TTAAACCAGGAAAGCTTCCTG	0.453													7	22					0	0	1	0	0	G	40926665	A	G	40926665	5	3	283	1	0	0	0	0	0	0	1	0	17256	260	9	3	211	3	VPS25	17	40926665	Splice_Site	SNP	A	TCGA-HT-7877-01A-11D-2395-08	32879605	40926665	40268545	13	28457											
CIC	23152	broad.mit.edu	37	19	42791715	42791715	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7877-01A-11D-2395-08	TCGA-HT-7877-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dc115c-4c2c-4f45-bc8b-09bb9562cdce	44355458-1ec3-4e6b-bae8-e1a7642e03ce	g.chr19:42791715C>T	ENST00000572681.2	+	6	3396	c.3328C>T	c.(3328-3330)Cgg>Tgg	p.R1110W	CIC_ENST00000160740.3_Missense_Mutation_p.R201W|CIC_ENST00000575354.2_Missense_Mutation_p.R201W			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	201	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	p.R201W(1)		autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				GGACCACATCCGGCGGCCCAT	0.622			"Mis, F, S"		oligodendroglioma								18	77					0	0	1	0	0	T	42791715	C	T	42791715	3	4	283	1	0	0	0	0	1	0	0	0	3446	643	23	1	619	1	CIC	19	42791715	Missense_Mutation	SNP	C	TCGA-HT-7877-01A-11D-2395-08		42791715	16337268	14	28458											
TPTE	7179	broad.mit.edu	37	21	10906911	10906911	+	Silent	SNP	G	G	A			TCGA-HT-7877-01A-11D-2395-08	TCGA-HT-7877-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dc115c-4c2c-4f45-bc8b-09bb9562cdce	44355458-1ec3-4e6b-bae8-e1a7642e03ce	g.chr21:10906911G>A	ENST00000298232.7	-	23	1963	c.1596C>T	c.(1594-1596)tcC>tcT	p.S532S	TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000342420.5_Silent_p.S512S|TPTE_ENST00000361285.4_Silent_p.S550S	NM_199259.2	NP_954868	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	550	C2 tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.S550S(1)|p.S532S(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			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)		ATACTTAATCGGATCCAGCTA	0.398													5	69					0	0	1	0	0	A	10906911	G	A	10906911	2	1	283	1	0	0	0	0	0	0	0	1	16491	1103	39	1		1	TPTE	21	10906911	Silent	SNP	G	TCGA-HT-7877-01A-11D-2395-08		10906911	37222984	15	28459											
BAGE2	85319	broad.mit.edu	37	21	11098920	11098920	+	RNA	SNP	A	A	G	rs78230864		TCGA-HT-7877-01A-11D-2395-08	TCGA-HT-7877-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dc115c-4c2c-4f45-bc8b-09bb9562cdce	44355458-1ec3-4e6b-bae8-e1a7642e03ce	g.chr21:11098920A>G	ENST00000470054.1	-	0	5									B melanoma antigen family, member 2															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)		gggagataccagagaccctaa	0.572													4	26					0	0	1	0	0	G	11098920	A	G	11098920	1	3	283	0	1	0	0	0	0	0	0	0	1290	203	7	3		3	BAGE2	21	11098920	RNA	SNP	A	TCGA-HT-7877-01A-11D-2395-08	192009	11098920	37030975	16	28460											
NOL12	79159	broad.mit.edu	37	22	38087302	38087302	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7877-01A-11D-2395-08	TCGA-HT-7877-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dc115c-4c2c-4f45-bc8b-09bb9562cdce	44355458-1ec3-4e6b-bae8-e1a7642e03ce	g.chr22:38087302C>T	ENST00000359114.4	+	6	671	c.601C>T	c.(601-603)Cgc>Tgc	p.R201C	NOL12_ENST00000493862.1_3'UTR	NM_024313.2	NP_077289.1	Q9UGY1	NOL12_HUMAN	nucleolar protein 12	201						nucleolus	rRNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)	8	Melanoma(58;0.0574)					CAAGGCCCAGCGCCGCCGTCT	0.632													23	41					0	0	1	0	0	T	38087302	C	T	38087302	3	4	283	1	0	0	0	0	1	0	0	0	10569	768	27	1	623	1	NOL12	22	38087302	Missense_Mutation	SNP	C	TCGA-HT-7877-01A-11D-2395-08		38087302	13217264	17	28461											
ARHGEF9	23229	broad.mit.edu	37	X	62893977	62893977	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HT-7877-01A-11D-2395-08	TCGA-HT-7877-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dc115c-4c2c-4f45-bc8b-09bb9562cdce	44355458-1ec3-4e6b-bae8-e1a7642e03ce	g.chrX:62893977G>A	ENST00000253401.6	-	6	1665	c.865C>T	c.(865-867)Cga>Tga	p.R289*	ARHGEF9_ENST00000495564.1_5'UTR|ARHGEF9_ENST00000433323.2_Nonsense_Mutation_p.R60*|ARHGEF9_ENST00000374878.1_Nonsense_Mutation_p.R287*|ARHGEF9_ENST00000374870.4_Nonsense_Mutation_p.R187*|ARHGEF9_ENST00000374872.1_Nonsense_Mutation_p.R268*|ARHGEF9_ENST00000437457.2_Nonsense_Mutation_p.R236*	NM_015185.2	NP_056000.1	O43307	ARHG9_HUMAN	Cdc42 guanine nucleotide exchange factor (GEF) 9	289					apoptosis|induction of apoptosis by extracellular signals|ion transmembrane transport|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol	Rho guanyl-nucleotide exchange factor activity	p.R287*(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|skin(1)	35						TCTAAACGTCGCTTGCGTTCG	0.458													4	63					0	0	1	0	0	A	62893977	G	A	62893977	4	1	283	1	0	0	0	0	0	1	0	0	909	1095	38	1	705	1	ARHGEF9	23	62893977	Nonsense_Mutation	SNP	G	TCGA-HT-7877-01A-11D-2395-08		62893977	92376583	18	28462											
RAB33A	9363	broad.mit.edu	37	X	129306042	129306042	+	Silent	SNP	G	G	A			TCGA-HT-7877-01A-11D-2395-08	TCGA-HT-7877-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dc115c-4c2c-4f45-bc8b-09bb9562cdce	44355458-1ec3-4e6b-bae8-e1a7642e03ce	g.chrX:129306042G>A	ENST00000257017.4	+	1	420	c.6G>A	c.(4-6)gcG>gcA	p.A2A		NM_004794.2	NP_004785.1	Q14088	RB33A_HUMAN	RAB33A, member RAS oncogene family	2					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(5)	11						GGGAGATGGCGCAGCCCATCC	0.692													16	32					0	0	1	0	0	A	129306042	G	A	129306042	2	1	283	1	0	0	0	0	0	0	0	1	12974	1074	38	1		1	RAB33A	23	129306042	Silent	SNP	G	TCGA-HT-7877-01A-11D-2395-08	66412065	129306042	25964518	19	28463											
MAMLD1	10046	broad.mit.edu	37	X	149638921	149638921	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-7877-01A-11D-2395-08	TCGA-HT-7877-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dc115c-4c2c-4f45-bc8b-09bb9562cdce	44355458-1ec3-4e6b-bae8-e1a7642e03ce	g.chrX:149638921C>G	ENST00000370401.2	+	4	1386	c.1076C>G	c.(1075-1077)cCa>cGa	p.P359R	MAMLD1_ENST00000432680.2_Missense_Mutation_p.P334R|MAMLD1_ENST00000426613.2_Missense_Mutation_p.P334R|MAMLD1_ENST00000262858.5_Missense_Mutation_p.P359R			Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	359	Poly-Pro.		P -> S (in dbSNP:rs41313406).		male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37	Acute lymphoblastic leukemia(192;6.56e-05)					ccaccacccccaTTCAGCCCC	0.612													45	166					0	0	1	0	0	G	149638921	C	G	149638921	3	3	283	1	0	0	0	0	1	0	0	0	9258	594	21	5	1086	5	MAMLD1	23	149638921	Missense_Mutation	SNP	C	TCGA-HT-7877-01A-11D-2395-08	20332879	149638921	5631639	20	28464											
PASD1	139135	broad.mit.edu	37	X	150817142	150817144	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-HT-7877-01A-11D-2395-08	TCGA-HT-7877-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dc115c-4c2c-4f45-bc8b-09bb9562cdce	44355458-1ec3-4e6b-bae8-e1a7642e03ce	g.chrX:150817142_150817144delGCT	ENST00000370357.4	+	9	930_932	c.685_687delGCT	c.(685-687)gctdel	p.A236del		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	236	Poly-Ala.					nucleus	signal transducer activity	p.A229A(2)		breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					CGTTGAACCCgctgctgctgctg	0.433													8	172	---	---	---	---						-	150817144	GCT	-	150817142	7	5	283	1	0	1	0	1	0	0	0	0	11518	1087	38	0	715	0	PASD1	23	150817142	In_Frame_Del	DEL	GCT	TCGA-HT-7877-01A-11D-2395-08	1178221	150817142	4453418	21	28465											
G6PD	2539	broad.mit.edu	37	X	153762634	153762634	+	Missense_Mutation	SNP	G	G	A	rs5030868	byFrequency	TCGA-HT-7877-01A-11D-2395-08	TCGA-HT-7877-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dc115c-4c2c-4f45-bc8b-09bb9562cdce	44355458-1ec3-4e6b-bae8-e1a7642e03ce	g.chrX:153762634G>A	ENST00000393562.2	-	6	1036	c.653C>T	c.(652-654)tCc>tTc	p.S218F	G6PD_ENST00000369620.2_Missense_Mutation_p.S188F|G6PD_ENST00000393564.2_Missense_Mutation_p.S188F	NM_000402.3	NP_000393.4	P11413	G6PD_HUMAN	glucose-6-phosphate dehydrogenase	188					cellular response to oxidative stress|cholesterol biosynthetic process|cytokine production|erythrocyte maturation|glucose 6-phosphate metabolic process|glutathione metabolic process|negative regulation of protein glutathionylation|pentose-phosphate shunt, oxidative branch|ribose phosphate biosynthetic process	centrosome|cytosol|internal side of plasma membrane|intracellular membrane-bounded organelle	glucose binding|glucose-6-phosphate dehydrogenase activity|NADP binding|protein homodimerization activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(3)|ovary(4)	18	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GAACAGGGAGGAGATGTGGTT	0.632													43	106					0	0	1	0	0	A	153762634	G	A	153762634	3	1	283	1	0	0	0	0	1	0	0	0	6181	1174	41	2	1016	2	G6PD	23	153762634	Missense_Mutation	SNP	G	TCGA-HT-7877-01A-11D-2395-08	2945492	153762634	1507926	22	28466											
STAM2	10254	broad.mit.edu	37	2	153003685	153003685	+	Silent	SNP	T	T	C			TCGA-HT-7879-01A-11D-2395-08	TCGA-HT-7879-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d315e0c-c20e-4f62-ae8b-42bdd9dbe053	826113c1-03bb-49be-82f0-e1dd43ec6cbc	g.chr2:153003685T>C	ENST00000263904.4	-	5	787	c.438A>G	c.(436-438)gcA>gcG	p.A146A	STAM2_ENST00000465460.1_5'UTR	NM_005843.4	NP_005834.4	O75886	STAM2_HUMAN	signal transducing adaptor molecule (SH3 domain and ITAM motif) 2	146					cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway	cytosol|early endosome membrane	protein binding			endometrium(3)|large_intestine(4)|lung(8)|ovary(1)	16				BRCA - Breast invasive adenocarcinoma(221;0.22)		CCTGAGAACCTGCTGGAGGAA	0.373													49	63					0	0	1	0	0	C	153003685	T	C	153003685	2	2	284	1	0	0	0	0	0	0	0	1	15305	1567	55	3		3	STAM2	2	153003685	Silent	SNP	T	TCGA-HT-7879-01A-11D-2395-08		153003685	90195688	1	28467											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-HT-7879-01A-11D-2395-08	TCGA-HT-7879-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d315e0c-c20e-4f62-ae8b-42bdd9dbe053	826113c1-03bb-49be-82f0-e1dd43ec6cbc	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	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								17	66					0	0	1	0	0	T	209113112	C	T	209113112	3	4	284	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HT-7879-01A-11D-2395-08	56109427	209113112	34086261	2	28468											
TBC1D9	23158	broad.mit.edu	37	4	141677165	141677165	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7879-01A-11D-2395-08	TCGA-HT-7879-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d315e0c-c20e-4f62-ae8b-42bdd9dbe053	826113c1-03bb-49be-82f0-e1dd43ec6cbc	g.chr4:141677165T>C	ENST00000442267.2	-	1	109	c.35A>G	c.(34-36)aAc>aGc	p.N12S		NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	12						intracellular	calcium ion binding|Rab GTPase activator activity			endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				CCACAGCGCGTTGGCCAGCAA	0.701													7	19					0	0	1	0	0	C	141677165	T	C	141677165	3	2	284	1	0	0	0	0	1	0	0	0	15687	1725	60	3	3849	3	TBC1D9	4	141677165	Missense_Mutation	SNP	T	TCGA-HT-7879-01A-11D-2395-08		141677165	49477111	3	28469											
CDC20B	166979	broad.mit.edu	37	5	54429276	54429276	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7879-01A-11D-2395-08	TCGA-HT-7879-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d315e0c-c20e-4f62-ae8b-42bdd9dbe053	826113c1-03bb-49be-82f0-e1dd43ec6cbc	g.chr5:54429276C>T	ENST00000334206.5	-	6	837	c.661G>A	c.(661-663)Gtg>Atg	p.V221M	CDC20B_ENST00000296733.1_Missense_Mutation_p.V221M|CDC20B_ENST00000322374.6_Missense_Mutation_p.V221M|CDC20B_ENST00000381375.2_Missense_Mutation_p.V221M			Q86Y33	CD20B_HUMAN	cell division cycle 20B	221										kidney(1)|large_intestine(5)|lung(7)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	19		Lung NSC(810;0.000744)|Breast(144;0.159)|Prostate(74;0.194)	LUSC - Lung squamous cell carcinoma(15;0.225)			TGAATCTTCACCTCTGGTTGG	0.368													36	53					0	0	1	0	0	T	54429276	C	T	54429276	3	4	284	1	0	0	0	0	1	0	0	0	3082	507	18	2	926	2	CDC20B	5	54429276	Missense_Mutation	SNP	C	TCGA-HT-7879-01A-11D-2395-08		54429276	126485984	4	28470											
PKHD1	5314	broad.mit.edu	37	6	51897948	51897948	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7879-01A-11D-2395-08	TCGA-HT-7879-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d315e0c-c20e-4f62-ae8b-42bdd9dbe053	826113c1-03bb-49be-82f0-e1dd43ec6cbc	g.chr6:51897948T>C	ENST00000371117.3	-	29	3519	c.3244A>G	c.(3244-3246)Att>Gtt	p.I1082V	PKHD1_ENST00000340994.4_Missense_Mutation_p.I1082V	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	1082	IPT/TIG 5.				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)					ACATTCACAATGCGTCCATCT	0.368													27	45					0	0	1	0	0	C	51897948	T	C	51897948	3	2	284	1	0	0	0	0	1	0	0	0	12019	1464	51	3	9175	3	PKHD1	6	51897948	Missense_Mutation	SNP	T	TCGA-HT-7879-01A-11D-2395-08		51897948	119217119	5	28471											
DOCK4	9732	broad.mit.edu	37	7	111405275	111405275	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7879-01A-11D-2395-08	TCGA-HT-7879-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d315e0c-c20e-4f62-ae8b-42bdd9dbe053	826113c1-03bb-49be-82f0-e1dd43ec6cbc	g.chr7:111405275T>C	ENST00000428084.1	-	39	4191	c.3919A>G	c.(3919-3921)Atg>Gtg	p.M1307V	DOCK4_ENST00000494651.2_Missense_Mutation_p.M181V|DOCK4_ENST00000437633.1_Missense_Mutation_p.M1298V			Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	1298	DHR-2.				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				GAGGCTTCCATCATCTAGAAA	0.313													2	7					0	0	1	0	0	C	111405275	T	C	111405275	3	2	284	1	0	0	0	0	1	0	0	0	4716	1435	50	3	2068	3	DOCK4	7	111405275	Missense_Mutation	SNP	T	TCGA-HT-7879-01A-11D-2395-08		111405275	47733388	6	28472											
CACNB2	783	broad.mit.edu	37	10	18690025	18690025	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7879-01A-11D-2395-08	TCGA-HT-7879-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d315e0c-c20e-4f62-ae8b-42bdd9dbe053	826113c1-03bb-49be-82f0-e1dd43ec6cbc	g.chr10:18690025T>C	ENST00000377315.4	+	1	284	c.65T>C	c.(64-66)aTc>aCc	p.I22T	CACNB2_ENST00000377331.2_Intron|CACNB2_ENST00000352115.6_Intron|CACNB2_ENST00000377329.4_Intron|CACNB2_ENST00000377328.1_Intron|CACNB2_ENST00000282343.8_Intron|CACNB2_ENST00000396576.2_Intron|CACNB2_ENST00000377319.3_Intron|CACNB2_ENST00000324631.7_Intron	NM_201570.2	NP_963864.1	Q08289	CACB2_HUMAN	calcium channel, voltage-dependent, beta 2 subunit	0					axon guidance|neuromuscular junction development	integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2)	31					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	AATTCTGATATCTGTGTAAGC	0.507													36	45					0	0	1	0	0	C	18690025	T	C	18690025	3	2	284	1	0	0	0	0	1	0	0	0	2571	1435	50	3	435	3	CACNB2	10	18690025	Missense_Mutation	SNP	T	TCGA-HT-7879-01A-11D-2395-08		18690025	116844722	7	28473											
GAD2	2572	broad.mit.edu	37	10	26589805	26589805	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7879-01A-11D-2395-08	TCGA-HT-7879-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d315e0c-c20e-4f62-ae8b-42bdd9dbe053	826113c1-03bb-49be-82f0-e1dd43ec6cbc	g.chr10:26589805G>A	ENST00000376261.3	+	16	2176	c.1673G>A	c.(1672-1674)cGc>cAc	p.R558H	GAD2_ENST00000259271.3_Missense_Mutation_p.R558H	NM_001134366.1	NP_001127838.1	Q05329	DCE2_HUMAN	glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	558					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion	cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48					L-Glutamic Acid(DB00142)	AATTTCTTCCGCATGGTCATC	0.463													89	102					0	0	1	0	0	A	26589805	G	A	26589805	3	1	284	1	0	0	0	0	1	0	0	0	6215	1087	38	1	1735	1	GAD2	10	26589805	Missense_Mutation	SNP	G	TCGA-HT-7879-01A-11D-2395-08	7899780	26589805	108944942	8	28474											
CACNA1H	8912	broad.mit.edu	37	16	1265549	1265549	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7879-01A-11D-2395-08	TCGA-HT-7879-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d315e0c-c20e-4f62-ae8b-42bdd9dbe053	826113c1-03bb-49be-82f0-e1dd43ec6cbc	g.chr16:1265549G>A	ENST00000348261.5	+	30	5448	c.5200G>A	c.(5200-5202)Ggc>Agc	p.G1734S	CACNA1H_ENST00000358590.4_Missense_Mutation_p.G1728S|CACNA1H_ENST00000565831.1_Missense_Mutation_p.G1728S	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	1734					aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity	p.G1734C(1)|p.G1728C(1)		breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	GATGGCTACGGGCATGCGCGC	0.721													12	15					0	0	1	0	0	A	1265549	G	A	1265549	3	1	284	1	0	0	0	0	1	0	0	0	2563	1232	43	2	5314	2	CACNA1H	16	1265549	Missense_Mutation	SNP	G	TCGA-HT-7879-01A-11D-2395-08		1265549	89089204	9	28475											
TP53	7157	broad.mit.edu	37	17	7577150	7577151	+	Frame_Shift_Del	DEL	TT	TT	-	rs72661119		TCGA-HT-7879-01A-11D-2395-08	TCGA-HT-7879-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d315e0c-c20e-4f62-ae8b-42bdd9dbe053	826113c1-03bb-49be-82f0-e1dd43ec6cbc	g.chr17:7577150_7577151delTT	ENST00000420246.2	-	8	919_920	c.787_788delAA	c.(787-789)aatfs	p.N263fs	TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Frame_Shift_Del_p.N263fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.N263fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.N263fs|TP53_ENST00000269305.4_Frame_Shift_Del_p.N263fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	263	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		GN -> PD (in a sporadic cancer; somatic mutation).|N -> D (in sporadic cancers; somatic mutation).|N -> H (in sporadic cancers; somatic mutation).|N -> I (in sporadic cancers; somatic mutation).|N -> K (in a sporadic cancer; somatic mutation).|N -> S (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.0?(8)|p.N263fs*82(3)|p.?(3)|p.G262_F270delGNLLGRNSF(2)|p.N263D(2)|p.N263I(2)|p.G262_S269delGNLLGRNS(2)|p.N263H(2)|p.N263fs*5(1)|p.E258fs*71(1)|p.S261_L264>R(1)|p.N263fs*84(1)|p.G262fs*2(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)		TCCCAGTAGATTACCACTACTC	0.52		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)			17	23	---	---	---	---						-	7577151	TT	-	7577150	7	5	284	1	0	1	0	1	0	0	0	0	16442	1493	52	0	498	0	TP53	17	7577150	Frame_Shift_Del	DEL	TT	TCGA-HT-7879-01A-11D-2395-08		7577150	73618060	10	28476											
TP53	7157	broad.mit.edu	37	17	7578271	7578271	+	Missense_Mutation	SNP	T	T	A			TCGA-HT-7879-01A-11D-2395-08	TCGA-HT-7879-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d315e0c-c20e-4f62-ae8b-42bdd9dbe053	826113c1-03bb-49be-82f0-e1dd43ec6cbc	g.chr17:7578271T>A	ENST00000420246.2	-	6	710	c.578A>T	c.(577-579)cAt>cTt	p.H193L	TP53_ENST00000445888.2_Missense_Mutation_p.H193L|TP53_ENST00000359597.4_Missense_Mutation_p.H193L|TP53_ENST00000269305.4_Missense_Mutation_p.H193L|TP53_ENST00000574684.1_Intron|TP53_ENST00000413465.2_Missense_Mutation_p.H193L|TP53_ENST00000455263.2_Missense_Mutation_p.H193L	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	193	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in LFS; germline mutation and in sporadic cancers; somatic mutation).|H -> Y (in sporadic cancers; somatic mutation).|QH -> HN (in a sporadic cancer; somatic mutation).|QH -> HY (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.H193R(80)|p.H193L(42)|p.H193P(18)|p.0?(8)|p.?(6)|p.H61R(4)|p.H100R(4)|p.H100L(4)|p.H61L(4)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.H193fs*16(3)|p.P191fs*53(2)|p.H61P(2)|p.H100P(2)|p.A189fs*53(1)|p.P191fs*6(1)|p.H193_I195delHLI(1)|p.P59_E66>Q(1)|p.P191fs*15(1)|p.P98_E105>Q(1)|p.H193_I195>AP(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)		TCGGATAAGATGCTGAGGAGG	0.562		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)			22	44					0	0	1	0	0	A	7578271	T	A	7578271	3	1	284	1	0	0	0	0	1	0	0	0	16442	1464	51	4	716	4	TP53	17	7578271	Missense_Mutation	SNP	T	TCGA-HT-7879-01A-11D-2395-08	1121	7578271	73616939	11	28477											
MLLT1	4298	broad.mit.edu	37	19	6270683	6270683	+	Missense_Mutation	SNP	C	C	A			TCGA-HT-7879-01A-11D-2395-08	TCGA-HT-7879-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d315e0c-c20e-4f62-ae8b-42bdd9dbe053	826113c1-03bb-49be-82f0-e1dd43ec6cbc	g.chr19:6270683C>A	ENST00000252674.7	-	2	263	c.100G>T	c.(100-102)Gtg>Ttg	p.V34L		NM_005934.3	NP_005925.2	Q03111	ENL_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1	34	YEATS.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|protein binding			endometrium(3)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|skin(2)	17						CGGACAAACACCATCCAGTCG	0.622			T	MLL	AL						OREG0025198	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	46					0.00198382	0.00203743	1	1	0	A	6270683	C	A	6270683	3	1	284	1	0	0	0	0	1	0	0	0	9673	507	18	5	1623	5	MLLT1	19	6270683	Missense_Mutation	SNP	C	TCGA-HT-7879-01A-11D-2395-08		6270683	52858300	12	28478											
MYL9	10398	broad.mit.edu	37	20	35177631	35177631	+	Silent	SNP	C	C	T			TCGA-HT-7879-01A-11D-2395-08	TCGA-HT-7879-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d315e0c-c20e-4f62-ae8b-42bdd9dbe053	826113c1-03bb-49be-82f0-e1dd43ec6cbc	g.chr20:35177631C>T	ENST00000279022.2	+	4	602	c.498C>T	c.(496-498)ggC>ggT	p.G166G	MYL9_ENST00000346786.2_Silent_p.G112G|RP5-977B1.7_ENST00000425233.1_RNA|RP5-977B1.11_ENST00000561134.1_RNA|RP5-977B1.7_ENST00000439595.1_RNA	NM_006097.4	NP_006088.2	P24844	MYL9_HUMAN	myosin, light chain 9, regulatory	166	EF-hand 3.				axon guidance|muscle contraction|regulation of muscle contraction	cytosol|muscle myosin complex	calcium ion binding|structural constituent of muscle			endometrium(2)|kidney(1)|large_intestine(3)|lung(2)	8	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				TCAAACATGGCGCCAAGGATA	0.602													4	30					0	0	1	0	0	T	35177631	C	T	35177631	2	4	284	1	0	0	0	0	0	0	0	1	10102	755	27	1		1	MYL9	20	35177631	Silent	SNP	C	TCGA-HT-7879-01A-11D-2395-08		35177631	27847889	13	28479											
EWSR1	2130	broad.mit.edu	37	22	29694857	29694857	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HT-7879-01A-11D-2395-08	TCGA-HT-7879-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d315e0c-c20e-4f62-ae8b-42bdd9dbe053	826113c1-03bb-49be-82f0-e1dd43ec6cbc	g.chr22:29694857C>T	ENST00000397938.2	+	14	1871	c.1552C>T	c.(1552-1554)Cga>Tga	p.R518*	EWSR1_ENST00000414183.2_Nonsense_Mutation_p.R523*|EWSR1_ENST00000332035.6_Nonsense_Mutation_p.R462*|EWSR1_ENST00000332050.6_Nonsense_Mutation_p.R445*|EWSR1_ENST00000406548.1_Nonsense_Mutation_p.R517*|EWSR1_ENST00000331029.7_Nonsense_Mutation_p.R480*	NM_001163285.1|NM_001163286.1|NM_005243.3|NM_013986.3	NP_001156757.1|NP_001156758.1|NP_005234.1|NP_053733.2	Q01844	EWS_HUMAN	EWS RNA-binding protein 1	518					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	calmodulin binding|nucleotide binding|RNA binding|zinc ion binding		EWSR1/ATF1(347)|EWSR1/POU5F1(10)|EWSR1/PBX1(3)|EWSR1/DDIT3(45)|EWSR1/FEV(11)|EWSR1/CREB1(44)|EWSR1/SMARCA5(2)|EWSR1/ETV4(6)|EWSR1/ERG(178)|EWSR1/ZNF384(4)|EWSR1/ETV1(7)|EWSR1/FLI1(2569)|EWSR1/NR4A3(146)|EWSR1/SP3(3)|EWSR1/PATZ1(2)|EWSR1/WT1(234)|EWSR1/NFATC2(9)	breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						CGTCCAGCACCGAGCTGGAGA	0.602			T	"FLI1, ERG, ZNF278, NR4A3, FEV, ATF1, ETV1, ETV4, WT1, ZNF384, CREB1, POU5F1,  PBX1"	"Ewing sarcoma,  desmoplastic small round cell tumor , ALL, clear cell sarcoma, sarcoma, myoepithelioma"								51	88					0	0	1	0	0	T	29694857	C	T	29694857	4	4	284	1	0	0	0	0	0	1	0	0	5323	644	23	1	1723	1	EWSR1	22	29694857	Nonsense_Mutation	SNP	C	TCGA-HT-7879-01A-11D-2395-08		29694857	21609709	14	28480											
OGT	8473	broad.mit.edu	37	X	70767813	70767813	+	Missense_Mutation	SNP	T	T	G			TCGA-HT-7879-01A-11D-2395-08	TCGA-HT-7879-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d315e0c-c20e-4f62-ae8b-42bdd9dbe053	826113c1-03bb-49be-82f0-e1dd43ec6cbc	g.chrX:70767813T>G	ENST00000373719.3	+	5	805	c.588T>G	c.(586-588)aaT>aaG	p.N196K	OGT_ENST00000373701.3_Missense_Mutation_p.N186K	NM_181672.2|NM_181673.2	NP_858058.1|NP_858059.1	O15294	OGT1_HUMAN	O-linked N-acetylglucosamine (GlcNAc) transferase	196					cellular response to retinoic acid|positive regulation of granulocyte differentiation|positive regulation of histone H3-K4 methylation|positive regulation of proteolysis|protein O-linked glycosylation|signal transduction	cytosol|MLL5-L complex	enzyme activator activity|protein binding|protein N-acetylglucosaminyltransferase activity	p.N196K(1)|p.N186K(1)		breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Renal(35;0.156)					CTTGGAGTAATCTTGGCTGTG	0.378													73	9					0	0	1	0	0	G	70767813	T	G	70767813	3	3	284	1	0	0	0	0	1	0	0	0	10895	1432	50	4	606	4	OGT	23	70767813	Missense_Mutation	SNP	T	TCGA-HT-7879-01A-11D-2395-08		70767813	84502747	15	28481											
ATRX	546	broad.mit.edu	37	X	76938001	76938001	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HT-7879-01A-11D-2395-08	TCGA-HT-7879-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d315e0c-c20e-4f62-ae8b-42bdd9dbe053	826113c1-03bb-49be-82f0-e1dd43ec6cbc	g.chrX:76938001delG	ENST00000373344.5	-	9	2961	c.2747delC	c.(2746-2748)gctfs	p.A916fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.A878fs	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	916					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)	ATCAGTGGAAGCACTTGCTTG	0.418			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						122	35	---	---	---	---						-	76938001	G	-	76938001	7	5	284	1	0	1	0	1	0	0	0	0	1206	971	34	0	4839	0	ATRX	23	76938001	Frame_Shift_Del	DEL	G	TCGA-HT-7879-01A-11D-2395-08	6170188	76938001	78332559	16	28482											
TRIM33	51592	broad.mit.edu	37	1	114968295	114968295	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7880-01A-11D-2395-08	TCGA-HT-7880-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a061c9f4-52fe-4b46-8e9f-0fcc76dbc1c8	8838112e-a2bd-4211-b5f9-990637c86c8c	g.chr1:114968295C>T	ENST00000358465.2	-	9	1554	c.1471G>A	c.(1471-1473)Gta>Ata	p.V491I	TRIM33_ENST00000369543.2_Missense_Mutation_p.V491I|TRIM33_ENST00000450349.2_Missense_Mutation_p.V99I	NM_015906.3	NP_056990.3	Q9UPN9	TRI33_HUMAN	tripartite motif containing 33	491					negative regulation of BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	nucleus	co-SMAD binding|DNA binding|ligase activity|R-SMAD binding|zinc ion binding			breast(2)|central_nervous_system(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	48	all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184)	all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TGCCCAACTACAACATTAGGA	0.368			T	RET	papillary thyroid								4	100					0	0	1	0	0	T	114968295	C	T	114968295	3	4	285	1	0	0	0	0	1	0	0	0	16568	478	17	2	1960	2	TRIM33	1	114968295	Missense_Mutation	SNP	C	TCGA-HT-7880-01A-11D-2395-08		114968295	134282326	1	28483											
PTPN14	5784	broad.mit.edu	37	1	214557534	214557534	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7880-01A-11D-2395-08	TCGA-HT-7880-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a061c9f4-52fe-4b46-8e9f-0fcc76dbc1c8	8838112e-a2bd-4211-b5f9-990637c86c8c	g.chr1:214557534G>A	ENST00000366956.5	-	13	1858	c.1664C>T	c.(1663-1665)aCg>aTg	p.T555M	PTPN14_ENST00000543945.1_3'UTR	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14	555					lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding			NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		CATGTGGGCCGTGCTGTAGTT	0.637													10	118					0	0	1	0	0	A	214557534	G	A	214557534	3	1	285	1	0	0	0	0	1	0	0	0	12833	1145	40	1	1927	1	PTPN14	1	214557534	Missense_Mutation	SNP	G	TCGA-HT-7880-01A-11D-2395-08	99589239	214557534	34693087	2	28484											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-HT-7880-01A-11D-2395-08	TCGA-HT-7880-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a061c9f4-52fe-4b46-8e9f-0fcc76dbc1c8	8838112e-a2bd-4211-b5f9-990637c86c8c	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								13	50					0	0	1	0	0	T	209113112	C	T	209113112	3	4	285	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HT-7880-01A-11D-2395-08		209113112	34086261	3	28485											
TMEM198	130612	broad.mit.edu	37	2	220412578	220412578	+	Missense_Mutation	SNP	A	A	C			TCGA-HT-7880-01A-11D-2395-08	TCGA-HT-7880-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a061c9f4-52fe-4b46-8e9f-0fcc76dbc1c8	8838112e-a2bd-4211-b5f9-990637c86c8c	g.chr2:220412578A>C	ENST00000344458.2	+	4	1102	c.517A>C	c.(517-519)Acc>Ccc	p.T173P	TMEM198_ENST00000373883.3_Missense_Mutation_p.T173P			Q66K66	TM198_HUMAN	transmembrane protein 198	173	Leu-rich.					integral to membrane				NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	16		Renal(207;0.0376)		Epithelial(149;6.49e-08)|all cancers(144;6.45e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		CCCACTCACCACCCTGGCCAC	0.697													6	15					0	0	1	0	0	C	220412578	A	C	220412578	3	2	285	1	0	0	0	0	1	0	0	0	16179	159	6	5	523	5	TMEM198	2	220412578	Missense_Mutation	SNP	A	TCGA-HT-7880-01A-11D-2395-08	11299466	220412578	22786795	4	28486											
SEMA3B	7869	broad.mit.edu	37	3	50311108	50311108	+	RNA	SNP	A	A	G			TCGA-HT-7880-01A-11D-2395-08	TCGA-HT-7880-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a061c9f4-52fe-4b46-8e9f-0fcc76dbc1c8	8838112e-a2bd-4211-b5f9-990637c86c8c	g.chr3:50311108A>G	ENST00000418948.1	+	0	1156							Q13214	SEM3B_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3B						axon guidance|cell-cell signaling	endoplasmic reticulum|extracellular region|membrane	receptor activity			central_nervous_system(2)|kidney(1)|lung(2)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		GGGGTTGGGGAGGGGGGCAGC	0.701											OREG0015583	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	48					0	0	1	0	0	G	50311108	A	G	50311108	1	3	285	0	1	0	0	0	0	0	0	0	14079	319	11	3		3	SEMA3B	3	50311108	RNA	SNP	A	TCGA-HT-7880-01A-11D-2395-08		50311108	147711322	5	28487											
PCDHB2	56133	broad.mit.edu	37	5	140476767	140476767	+	Missense_Mutation	SNP	C	C	G	rs461653		TCGA-HT-7880-01A-11D-2395-08	TCGA-HT-7880-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a061c9f4-52fe-4b46-8e9f-0fcc76dbc1c8	8838112e-a2bd-4211-b5f9-990637c86c8c	g.chr5:140476767C>G	ENST00000194155.4	+	1	2541	c.2393C>G	c.(2392-2394)aCt>aGt	p.T798S		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN		798					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTTGAATTCACTTAAGTGTTA	0.423													4	155					0	0	1	0	0	G	140476767	C	G	140476767	3	3	285	1	0	0	0	0	1	0	0	0	11589	565	20	4	2395	4	PCDHB2	5	140476767	Missense_Mutation	SNP	C	TCGA-HT-7880-01A-11D-2395-08		140476767	40438493	6	28488											
POM121	9883	broad.mit.edu	37	7	72413479	72413479	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7880-01A-11D-2395-08	TCGA-HT-7880-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a061c9f4-52fe-4b46-8e9f-0fcc76dbc1c8	8838112e-a2bd-4211-b5f9-990637c86c8c	g.chr7:72413479G>A	ENST00000395270.1	+	14	3193	c.2152G>A	c.(2152-2154)Gcc>Acc	p.A718T	POM121_ENST00000446813.1_Missense_Mutation_p.A718T|POM121_ENST00000257622.4_Missense_Mutation_p.A718T|POM121_ENST00000434423.2_Missense_Mutation_p.A983T|POM121_ENST00000358357.3_Missense_Mutation_p.A718T	NM_001257190.1	NP_001244119.1	Q96HA1	P121A_HUMAN	POM121 transmembrane nucleoporin	983	Pore side (Potential).				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				ACCGGGGGCCGCCAAGCCGGC	0.652													5	250					0	0	1	0	0	A	72413479	G	A	72413479	3	1	285	1	0	0	0	0	1	0	0	0	12287	1087	38	1	2190	1	POM121	7	72413479	Missense_Mutation	SNP	G	TCGA-HT-7880-01A-11D-2395-08		72413479	86725184	7	28489											
PKN3	29941	broad.mit.edu	37	9	131475882	131475882	+	Silent	SNP	G	G	C			TCGA-HT-7880-01A-11D-2395-08	TCGA-HT-7880-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a061c9f4-52fe-4b46-8e9f-0fcc76dbc1c8	8838112e-a2bd-4211-b5f9-990637c86c8c	g.chr9:131475882G>C	ENST00000291906.4	+	9	1590	c.1197G>C	c.(1195-1197)ctG>ctC	p.L399L		NM_013355.3	NP_037487.2	Q6P5Z2	PKN3_HUMAN	protein kinase N3	399					signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm	ATP binding|protein binding|protein kinase C activity			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24						GTCACCAACTGTCCCTCAGCC	0.632													6	85					0	0	1	0	0	C	131475882	G	C	131475882	2	2	285	1	0	0	0	0	0	0	0	1	12029	1364	48	5		5	PKN3	9	131475882	Silent	SNP	G	TCGA-HT-7880-01A-11D-2395-08		131475882	9737549	8	28490											
SPOCK2	9806	broad.mit.edu	37	10	73827431	73827431	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-7880-01A-11D-2395-08	TCGA-HT-7880-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a061c9f4-52fe-4b46-8e9f-0fcc76dbc1c8	8838112e-a2bd-4211-b5f9-990637c86c8c	g.chr10:73827431G>T	ENST00000373109.2	-	7	1093	c.649C>A	c.(649-651)Ctc>Atc	p.L217I	SPOCK2_ENST00000460053.1_5'UTR|SPOCK2_ENST00000317376.4_Missense_Mutation_p.L217I|SPOCK2_ENST00000536168.1_Missense_Mutation_p.L217I	NM_001244950.1	NP_001231879.1	Q92563	TICN2_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 2	217					extracellular matrix organization|regulation of cell differentiation|signal transduction|synapse assembly	proteinaceous extracellular matrix	calcium ion binding			endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						TCATGAAGGAGCTGGAACCAG	0.607													3	38					6.4e-05	7.168e-05	1	1	0	T	73827431	G	T	73827431	3	4	285	1	0	0	0	0	1	0	0	0	15136	971	34	4	645	4	SPOCK2	10	73827431	Missense_Mutation	SNP	G	TCGA-HT-7880-01A-11D-2395-08		73827431	61707316	9	28491											
KRTAP5-2	440021	broad.mit.edu	37	11	1619378	1619378	+	Missense_Mutation	SNP	G	G	A	rs138454470	byFrequency	TCGA-HT-7880-01A-11D-2395-08	TCGA-HT-7880-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a061c9f4-52fe-4b46-8e9f-0fcc76dbc1c8	8838112e-a2bd-4211-b5f9-990637c86c8c	g.chr11:1619378G>A	ENST00000412090.1	-	1	146	c.103C>T	c.(103-105)Cgt>Tgt	p.R35C	KRTAP5-AS1_ENST00000424148.1_RNA	NM_001004325.1	NP_001004325.1	Q701N4	KRA52_HUMAN	keratin associated protein 5-2	35						keratin filament				large_intestine(1)|lung(2)|skin(1)	4		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		CAGCCCCCACGGCCGGAGCCA	0.687													6	153					0	0	1	0	0	A	1619378	G	A	1619378	3	1	285	1	0	0	0	0	1	0	0	0	8601	1116	39	1	434	1	KRTAP5-2	11	1619378	Missense_Mutation	SNP	G	TCGA-HT-7880-01A-11D-2395-08		1619378	133387138	10	28492											
FOXJ2	55810	broad.mit.edu	37	12	8200558	8200560	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-HT-7880-01A-11D-2395-08	TCGA-HT-7880-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a061c9f4-52fe-4b46-8e9f-0fcc76dbc1c8	8838112e-a2bd-4211-b5f9-990637c86c8c	g.chr12:8200558_8200560delCAG	ENST00000162391.3	+	7	2043_2045	c.898_900delCAG	c.(898-900)cagdel	p.Q306del	FOXJ2_ENST00000428177.2_In_Frame_Del_p.Q306del	NM_018416.2	NP_060886.1	Q9P0K8	FOXJ2_HUMAN	forkhead box J2	306	Poly-Gln.				embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development	nucleolus|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding			autonomic_ganglia(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	16				Kidney(36;0.0944)		gccacctcaacagcagcagcagc	0.64													7	76	---	---	---	---						-	8200560	CAG	-	8200558	7	5	285	1	0	1	0	1	0	0	0	0	6046	479	17	0	920	0	FOXJ2	12	8200558	In_Frame_Del	DEL	CAG	TCGA-HT-7880-01A-11D-2395-08		8200558	125651337	11	28493											
ALX1	8092	broad.mit.edu	37	12	85677519	85677519	+	Missense_Mutation	SNP	A	A	T			TCGA-HT-7880-01A-11D-2395-08	TCGA-HT-7880-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a061c9f4-52fe-4b46-8e9f-0fcc76dbc1c8	8838112e-a2bd-4211-b5f9-990637c86c8c	g.chr12:85677519A>T	ENST00000316824.3	+	2	551	c.396A>T	c.(394-396)aaA>aaT	p.K132N		NM_006982.2	NP_008913.2	Q15699	ALX1_HUMAN	ALX homeobox 1	132					brain development|cartilage condensation|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|ovary(1)	26				GBM - Glioblastoma multiforme(134;0.134)		GCAGTAAGAAACGGAGGCACC	0.478													4	154					0	0	1	0	0	T	85677519	A	T	85677519	3	4	285	1	0	0	0	0	1	0	0	0	552	40	2	5	402	5	ALX1	12	85677519	Missense_Mutation	SNP	A	TCGA-HT-7880-01A-11D-2395-08	77476961	85677519	48174376	12	28494											
MYO1E	4643	broad.mit.edu	37	15	59445849	59445849	+	Missense_Mutation	SNP	C	C	A			TCGA-HT-7880-01A-11D-2395-08	TCGA-HT-7880-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a061c9f4-52fe-4b46-8e9f-0fcc76dbc1c8	8838112e-a2bd-4211-b5f9-990637c86c8c	g.chr15:59445849C>A	ENST00000288235.4	-	26	3419	c.3020G>T	c.(3019-3021)cGa>cTa	p.R1007L		NM_004998.3	NP_004989.2	Q12965	MYO1E_HUMAN	myosin IE	1007					actin filament-based movement	myosin complex	actin binding|ATP binding|ATPase activity, coupled|calmodulin binding|microfilament motor activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(6)|lung(10)|pancreas(2)|prostate(1)|urinary_tract(1)	33				all cancers(107;0.207)		CTGTGACACTCGGTCTGAACT	0.592													4	103					0.150653	0.150653	1	1	0	A	59445849	C	A	59445849	3	1	285	1	0	0	0	0	1	0	0	0	10120	884	31	5	318	5	MYO1E	15	59445849	Missense_Mutation	SNP	C	TCGA-HT-7880-01A-11D-2395-08		59445849	43085543	13	28495											
FAH	2184	broad.mit.edu	37	15	80452128	80452128	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HT-7880-01A-11D-2395-08	TCGA-HT-7880-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a061c9f4-52fe-4b46-8e9f-0fcc76dbc1c8	8838112e-a2bd-4211-b5f9-990637c86c8c	g.chr15:80452128C>T	ENST00000539156.1	+	2	2251	c.13C>T	c.(13-15)Cag>Tag	p.Q5*	FAH_ENST00000407106.1_Nonsense_Mutation_p.Q75*|FAH_ENST00000261755.5_Nonsense_Mutation_p.Q75*|FAH_ENST00000561421.1_Nonsense_Mutation_p.Q75*			P16930	FAAA_HUMAN	fumarylacetoacetate hydrolase (fumarylacetoacetase)	75					L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	fumarylacetoacetase activity|metal ion binding			endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GGGCCTGGGTCAGGCTGCCTG	0.527									Tyrosinemia, type 1				4	93					0	0	1	0	0	T	80452128	C	T	80452128	4	4	285	1	0	0	0	0	0	1	0	0	5402	827	29	2	233	2	FAH	15	80452128	Nonsense_Mutation	SNP	C	TCGA-HT-7880-01A-11D-2395-08	21006279	80452128	22079264	14	28496											
TP53	7157	broad.mit.edu	37	17	7577545	7577545	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7880-01A-11D-2395-08	TCGA-HT-7880-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a061c9f4-52fe-4b46-8e9f-0fcc76dbc1c8	8838112e-a2bd-4211-b5f9-990637c86c8c	g.chr17:7577545T>C	ENST00000420246.2	-	7	868	c.736A>G	c.(736-738)Atg>Gtg	p.M246V	TP53_ENST00000413465.2_Missense_Mutation_p.M246V|TP53_ENST00000455263.2_Missense_Mutation_p.M246V|TP53_ENST00000359597.4_Missense_Mutation_p.M246V|TP53_ENST00000445888.2_Missense_Mutation_p.M246V|TP53_ENST00000269305.4_Missense_Mutation_p.M246V	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	246	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		M -> I (in sporadic cancers; somatic mutation).|M -> K (in sporadic cancers; somatic mutation).|M -> L (in sporadic cancers; somatic mutation).|M -> R (in sporadic cancers; somatic mutation).|M -> T (in sporadic cancers; somatic mutation).|M -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.M246V(34)|p.0?(8)|p.?(5)|p.M246L(3)|p.G244_M246>V(3)|p.M246fs*1(2)|p.M153V(2)|p.M246_P250delMNRRP(2)|p.G151_M153>V(1)|p.G244fs*17(1)|p.C242fs*98(1)|p.G245fs*17(1)|p.C242_M246>L(1)|p.C238_M246delCNSSCMGGM(1)|p.G245fs*14(1)|p.G245fs*16(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CTCCGGTTCATGCCGCCCATG	0.577		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)			10	76					0	0	1	0	0	C	7577545	T	C	7577545	3	2	285	1	0	0	0	0	1	0	0	0	16442	1464	51	3	554	3	TP53	17	7577545	Missense_Mutation	SNP	T	TCGA-HT-7880-01A-11D-2395-08		7577545	73617665	15	28497											
NF1	4763	broad.mit.edu	37	17	29562657	29562660	+	Frame_Shift_Del	DEL	TGTT	TGTT	-			TCGA-HT-7880-01A-11D-2395-08	TCGA-HT-7880-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a061c9f4-52fe-4b46-8e9f-0fcc76dbc1c8	8838112e-a2bd-4211-b5f9-990637c86c8c	g.chr17:29562657_29562660delTGTT	ENST00000358273.4	+	28	4120_4123	c.3737_3740delTGTT	c.(3736-3741)ctgtttfs	p.LF1246fs	NF1_ENST00000356175.3_Frame_Shift_Del_p.LF1246fs	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1246	Ras-GAP.				actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(4)|p.F1247fs*16(1)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		CTGGTTACTCTGTTTGATTCTCGG	0.412			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			20	226	---	---	---	---						-	29562660	TGTT	-	29562657	7	5	285	1	0	1	0	1	0	0	0	0	10403	1580	55	0	3908	0	NF1	17	29562657	Frame_Shift_Del	DEL	TGTT	TCGA-HT-7880-01A-11D-2395-08	21985112	29562657	51632553	16	28498											
KAT2A	2648	broad.mit.edu	37	17	40269492	40269492	+	Silent	SNP	C	C	T			TCGA-HT-7880-01A-11D-2395-08	TCGA-HT-7880-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a061c9f4-52fe-4b46-8e9f-0fcc76dbc1c8	8838112e-a2bd-4211-b5f9-990637c86c8c	g.chr17:40269492C>T	ENST00000225916.5	-	10	1604	c.1551G>A	c.(1549-1551)ttG>ttA	p.L517L		NM_021078.2	NP_066564.2	Q92830	KAT2A_HUMAN	K(lysine) acetyltransferase 2A	517	N-acetyltransferase.				chromatin remodeling|histone deubiquitination|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex|STAGA complex|transcription factor TFTC complex	H3 histone acetyltransferase activity|histone deacetylase binding|protein binding|transcription coactivator activity			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						CGAGCCACAGCAACACCCGCC	0.647													4	44					0	0	1	0	0	T	40269492	C	T	40269492	2	4	285	1	0	0	0	0	0	0	0	1	8025	709	25	2		2	KAT2A	17	40269492	Silent	SNP	C	TCGA-HT-7880-01A-11D-2395-08	10706835	40269492	40925718	17	28499											
ATRX	546	broad.mit.edu	37	X	76937900	76937900	+	Nonsense_Mutation	SNP	T	T	A			TCGA-HT-7880-01A-11D-2395-08	TCGA-HT-7880-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a061c9f4-52fe-4b46-8e9f-0fcc76dbc1c8	8838112e-a2bd-4211-b5f9-990637c86c8c	g.chrX:76937900T>A	ENST00000373344.5	-	9	3062	c.2848A>T	c.(2848-2850)Aaa>Taa	p.K950*	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Nonsense_Mutation_p.K912*	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	950					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)	GTTTTGGTTTTGAGATGCTTG	0.358			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						17	76					0	0	1	0	0	A	76937900	T	A	76937900	4	1	285	1	0	0	0	0	0	1	0	0	1206	1821	63	5	4738	5	ATRX	23	76937900	Nonsense_Mutation	SNP	T	TCGA-HT-7880-01A-11D-2395-08		76937900	78332660	18	28500											
ATRX	546	broad.mit.edu	37	X	76938788	76938788	+	Silent	SNP	G	G	T			TCGA-HT-7880-01A-11D-2395-08	TCGA-HT-7880-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a061c9f4-52fe-4b46-8e9f-0fcc76dbc1c8	8838112e-a2bd-4211-b5f9-990637c86c8c	g.chrX:76938788G>T	ENST00000373344.5	-	9	2174	c.1960C>A	c.(1960-1962)Cga>Aga	p.R654R	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Silent_p.R616R	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	654					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)	GGGGATCTTCGAAGATCAGAT	0.393			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						19	114					7.07596e-05	7.62026e-05	1	1	0	T	76938788	G	T	76938788	2	4	285	1	0	0	0	0	0	0	0	1	1206	1066	37	5		5	ATRX	23	76938788	Silent	SNP	G	TCGA-HT-7880-01A-11D-2395-08	888	76938788	78331772	19	28501											
AFF2	2334	broad.mit.edu	37	X	148037448	148037448	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7880-01A-11D-2395-08	TCGA-HT-7880-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a061c9f4-52fe-4b46-8e9f-0fcc76dbc1c8	8838112e-a2bd-4211-b5f9-990637c86c8c	g.chrX:148037448A>G	ENST00000370460.2	+	11	2352	c.1873A>G	c.(1873-1875)Aca>Gca	p.T625A	AFF2_ENST00000342251.3_Missense_Mutation_p.T592A|AFF2_ENST00000286437.5_Missense_Mutation_p.T266A|AFF2_ENST00000370457.5_Missense_Mutation_p.T592A	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	625					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					GTCTCAAAGGACAATTGGGAA	0.443													16	104					0	0	1	0	0	G	148037448	A	G	148037448	3	3	285	1	0	0	0	0	1	0	0	0	356	275	10	3	1970	3	AFF2	23	148037448	Missense_Mutation	SNP	A	TCGA-HT-7880-01A-11D-2395-08	71098660	148037448	7233112	20	28502											
PRAMEF17	391004	broad.mit.edu	37	1	13718582	13718582	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HT-7881-01A-11D-2395-08	TCGA-HT-7881-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc49bdb9-54e2-4a0d-9896-cbc1dfb32e26	dc36499d-6903-4254-bbcd-e9dbc544951f	g.chr1:13718582delG	ENST00000376098.4	+	3	1071	c.1045delG	c.(1045-1047)gctfs	p.A349fs		NM_001099851.1	NP_001093321.1	Q5VTA0	PRA17_HUMAN	PRAME family member 17	349										kidney(1)|lung(2)	3	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;9.86e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|COAD - Colon adenocarcinoma(227;0.000502)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GAAAGTTGCTGCTACTCTCGA	0.547													6	7	---	---	---	---						-	13718582	G	-	13718582	7	5	286	1	0	1	0	1	0	0	0	0	12481	1319	46	0	1055	0	PRAMEF17	1	13718582	Frame_Shift_Del	DEL	G	TCGA-HT-7881-01A-11D-2395-08		13718582	235532039	1	28503											
HSPD1	3329	broad.mit.edu	37	2	198352636	198352636	+	Silent	SNP	A	A	T			TCGA-HT-7881-01A-11D-2395-08	TCGA-HT-7881-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc49bdb9-54e2-4a0d-9896-cbc1dfb32e26	dc36499d-6903-4254-bbcd-e9dbc544951f	g.chr2:198352636A>T	ENST00000388968.3	-	11	1782	c.1515T>A	c.(1513-1515)gcT>gcA	p.A505A	HSPD1_ENST00000345042.2_Silent_p.A505A	NM_002156.4	NP_002147.2	P10809	CH60_HUMAN	heat shock 60kDa protein 1 (chaperonin)	505					'de novo' protein folding|activation of caspase activity|B cell cytokine production|B cell proliferation|chaperone-mediated protein complex assembly|interspecies interaction between organisms|isotype switching to IgG isotypes|MyD88-dependent toll-like receptor signaling pathway|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of interferon-alpha production|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of macrophage activation|positive regulation of T cell activation|positive regulation of T cell mediated immune response to tumor cell|protein maturation|protein refolding|protein stabilization|response to unfolded protein|T cell activation	cell surface|coated pit|coated vesicle|cytosol|early endosome|extracellular space|lipopolysaccharide receptor complex|mitochondrial inner membrane|mitochondrial matrix|stored secretory granule	ATP binding|ATPase activity|cell surface binding|chaperone binding|DNA replication origin binding|lipopolysaccharide binding|p53 binding|single-stranded DNA binding			NS(1)|breast(3)|endometrium(2)|large_intestine(3)|lung(7)|skin(1)	17			Epithelial(96;0.225)			CTCCAGCCATAGCATCATAAC	0.348													5	78					0	0	1	0	0	T	198352636	A	T	198352636	2	4	286	1	0	0	0	0	0	0	0	1	7472	407	15	5		5	HSPD1	2	198352636	Silent	SNP	A	TCGA-HT-7881-01A-11D-2395-08		198352636	44846737	2	28504											
PLCL1	5334	broad.mit.edu	37	2	198950679	198950679	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7881-01A-11D-2395-08	TCGA-HT-7881-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc49bdb9-54e2-4a0d-9896-cbc1dfb32e26	dc36499d-6903-4254-bbcd-e9dbc544951f	g.chr2:198950679C>T	ENST00000428675.1	+	2	2836	c.2438C>T	c.(2437-2439)aCg>aTg	p.T813M	PLCL1_ENST00000437704.2_Missense_Mutation_p.T715M	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	813	C2.				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	p.T715M(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	GGGCAATATACGATACCATTT	0.443													15	124					0	0	1	0	0	T	198950679	C	T	198950679	3	4	286	1	0	0	0	0	1	0	0	0	12087	536	19	1	2444	1	PLCL1	2	198950679	Missense_Mutation	SNP	C	TCGA-HT-7881-01A-11D-2395-08	598043	198950679	44248694	3	28505											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-HT-7881-01A-11D-2395-08	TCGA-HT-7881-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc49bdb9-54e2-4a0d-9896-cbc1dfb32e26	dc36499d-6903-4254-bbcd-e9dbc544951f	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								14	97					0	0	1	0	0	T	209113112	C	T	209113112	3	4	286	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HT-7881-01A-11D-2395-08	10162433	209113112	34086261	4	28506											
ZBTB20	26137	broad.mit.edu	37	3	114070191	114070191	+	Missense_Mutation	SNP	G	G	C			TCGA-HT-7881-01A-11D-2395-08	TCGA-HT-7881-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc49bdb9-54e2-4a0d-9896-cbc1dfb32e26	dc36499d-6903-4254-bbcd-e9dbc544951f	g.chr3:114070191G>C	ENST00000462705.1	-	11	1336	c.515C>G	c.(514-516)tCg>tGg	p.S172W	ZBTB20_ENST00000357258.3_Missense_Mutation_p.S172W|ZBTB20_ENST00000474710.1_Missense_Mutation_p.S245W|ZBTB20_ENST00000481632.1_Missense_Mutation_p.S172W|ZBTB20_ENST00000393785.2_Missense_Mutation_p.S172W|ZBTB20_ENST00000464560.1_Missense_Mutation_p.S172W|ZBTB20_ENST00000471418.1_Missense_Mutation_p.S172W	NM_001164343.1	NP_001157815.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	245					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		GTAGAGTGCCGAGTAGATCCT	0.672													13	104					0	0	1	0	0	C	114070191	G	C	114070191	3	2	286	1	0	0	0	0	1	0	0	0	17588	1059	37	5	1499	5	ZBTB20	3	114070191	Missense_Mutation	SNP	G	TCGA-HT-7881-01A-11D-2395-08		114070191	83952239	5	28507											
MAN2B2	23324	broad.mit.edu	37	4	6599987	6599987	+	Silent	SNP	G	G	A			TCGA-HT-7881-01A-11D-2395-08	TCGA-HT-7881-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc49bdb9-54e2-4a0d-9896-cbc1dfb32e26	dc36499d-6903-4254-bbcd-e9dbc544951f	g.chr4:6599987G>A	ENST00000285599.3	+	9	1347	c.1311G>A	c.(1309-1311)acG>acA	p.T437T	MAN2B2_ENST00000504248.1_Silent_p.T386T	NM_015274.1	NP_056089.1	Q9Y2E5	MA2B2_HUMAN	mannosidase, alpha, class 2B, member 2	437					mannose metabolic process	extracellular region	alpha-mannosidase activity|carbohydrate binding|zinc ion binding			breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	30						TGTACGCAACGCACCTGGCCT	0.632													6	95					0	0	1	0	0	A	6599987	G	A	6599987	2	1	286	1	0	0	0	0	0	0	0	1	9267	1074	38	1		1	MAN2B2	4	6599987	Silent	SNP	G	TCGA-HT-7881-01A-11D-2395-08		6599987	184554289	6	28508											
CDH12	1010	broad.mit.edu	37	5	21975457	21975457	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7881-01A-11D-2395-08	TCGA-HT-7881-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc49bdb9-54e2-4a0d-9896-cbc1dfb32e26	dc36499d-6903-4254-bbcd-e9dbc544951f	g.chr5:21975457T>C	ENST00000382254.1	-	6	1355	c.269A>G	c.(268-270)aAa>aGa	p.K90R	CDH12_ENST00000504376.2_Missense_Mutation_p.K90R|CDH12_ENST00000522262.1_Missense_Mutation_p.K90R	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	90	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						GAGGGTGTATTTCACAGTGCC	0.463										HNSCC(59;0.17)			14	148					0	0	1	0	0	C	21975457	T	C	21975457	3	2	286	1	0	0	0	0	1	0	0	0	3120	1841	64	3	2155	3	CDH12	5	21975457	Missense_Mutation	SNP	T	TCGA-HT-7881-01A-11D-2395-08		21975457	158939803	7	28509											
TBP	6908	broad.mit.edu	37	6	170871094	170871094	+	Silent	SNP	G	G	A			TCGA-HT-7881-01A-11D-2395-08	TCGA-HT-7881-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc49bdb9-54e2-4a0d-9896-cbc1dfb32e26	dc36499d-6903-4254-bbcd-e9dbc544951f	g.chr6:170871094G>A	ENST00000392092.2	+	3	549	c.270G>A	c.(268-270)caG>caA	p.Q90Q	TBP_ENST00000230354.6_Silent_p.Q90Q|TBP_ENST00000540980.1_Silent_p.Q70Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	90	Poly-Gln.				cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction	transcription factor TFIIA complex|transcription factor TFIID complex	repressing transcription factor binding|transcription regulatory region DNA binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		agcagcagcagcagcagcagc	0.622													4	58					0	0	1	0	0	A	170871094	G	A	170871094	2	1	286	1	0	0	0	0	0	0	0	1	15704	962	34	2		2	TBP	6	170871094	Silent	SNP	G	TCGA-HT-7881-01A-11D-2395-08		170871094	243973	8	28510											
AHR	196	broad.mit.edu	37	7	17379139	17379139	+	Missense_Mutation	SNP	A	A	T			TCGA-HT-7881-01A-11D-2395-08	TCGA-HT-7881-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc49bdb9-54e2-4a0d-9896-cbc1dfb32e26	dc36499d-6903-4254-bbcd-e9dbc544951f	g.chr7:17379139A>T	ENST00000242057.4	+	10	2333	c.1690A>T	c.(1690-1692)Aat>Tat	p.N564Y	AHR_ENST00000492120.1_3'UTR	NM_001621.4	NP_001612.1	P35869	AHR_HUMAN	aryl hydrocarbon receptor	564					apoptosis|blood vessel development|cell cycle|regulation of B cell proliferation|response to stress|transcription from RNA polymerase II promoter|xenobiotic metabolic process	cytosolic aryl hydrocarbon receptor complex|transcription factor complex	Hsp90 protein binding|ligand-dependent nuclear receptor activity|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|urinary_tract(3)	33	Lung NSC(10;0.0392)|all_lung(11;0.0754)					ATTTTTCAGAAATGATTTTTC	0.353													33	112					0	0	1	0	0	T	17379139	A	T	17379139	3	4	286	1	0	0	0	0	1	0	0	0	413	14	1	5	1728	5	AHR	7	17379139	Missense_Mutation	SNP	A	TCGA-HT-7881-01A-11D-2395-08		17379139	141759524	9	28511											
ZNF425	155054	broad.mit.edu	37	7	148801044	148801044	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7881-01A-11D-2395-08	TCGA-HT-7881-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc49bdb9-54e2-4a0d-9896-cbc1dfb32e26	dc36499d-6903-4254-bbcd-e9dbc544951f	g.chr7:148801044C>T	ENST00000378061.2	-	4	2051	c.1919G>A	c.(1918-1920)tGt>tAt	p.C640Y		NM_001001661.2	NP_001001661.1	Q6IV72	ZN425_HUMAN	zinc finger protein 425	640					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	50	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			GCACATCACACAAGAGAATGG	0.537													17	185					0	0	1	0	0	T	148801044	C	T	148801044	3	4	286	1	0	0	0	0	1	0	0	0	17956	478	17	2	343	2	ZNF425	7	148801044	Missense_Mutation	SNP	C	TCGA-HT-7881-01A-11D-2395-08	131421905	148801044	10337619	10	28512											
C10orf82	143379	broad.mit.edu	37	10	118424279	118424279	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7881-01A-11D-2395-08	TCGA-HT-7881-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc49bdb9-54e2-4a0d-9896-cbc1dfb32e26	dc36499d-6903-4254-bbcd-e9dbc544951f	g.chr10:118424279A>G	ENST00000369210.3	-	4	508	c.454T>C	c.(454-456)Tat>Cat	p.Y152H	C10orf82_ENST00000588184.1_Missense_Mutation_p.Y152H	NM_144661.2	NP_653262.1	Q8WW14	CJ082_HUMAN	chromosome 10 open reading frame 82	152										endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7				all cancers(201;0.0143)		CACTCTTCATATGGTTTCAGA	0.527													7	143					0	0	1	0	0	G	118424279	A	G	118424279	3	3	286	1	0	0	0	0	1	0	0	0	1624	449	16	3	18	3	C10orf82	10	118424279	Missense_Mutation	SNP	A	TCGA-HT-7881-01A-11D-2395-08		118424279	17110468	11	28513											
NUP98	4928	broad.mit.edu	37	11	3716782	3716782	+	Missense_Mutation	SNP	C	C	T	rs144659895	byFrequency	TCGA-HT-7881-01A-11D-2395-08	TCGA-HT-7881-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc49bdb9-54e2-4a0d-9896-cbc1dfb32e26	dc36499d-6903-4254-bbcd-e9dbc544951f	g.chr11:3716782C>T	ENST00000324932.7	-	26	4484	c.4064G>A	c.(4063-4065)cGg>cAg	p.R1355Q	NUP98_ENST00000355260.3_Missense_Mutation_p.R1355Q|NUP98_ENST00000359171.4_Missense_Mutation_p.R1355Q|NUP98_ENST00000488828.1_5'UTR	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN	nucleoporin 98kDa	1372					carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex	protein binding|structural constituent of nuclear pore|transporter activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		GAGCAGCTCCCGGACTGACTG	0.473			T	"HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"	AML								9	145					0	0	1	0	0	T	3716782	C	T	3716782	3	4	286	1	0	0	0	0	1	0	0	0	10821	652	23	1	1370	1	NUP98	11	3716782	Missense_Mutation	SNP	C	TCGA-HT-7881-01A-11D-2395-08		3716782	131289734	12	28514											
ADCY4	196883	broad.mit.edu	37	14	24788316	24788316	+	Missense_Mutation	SNP	G	G	A	rs61741640	byFrequency	TCGA-HT-7881-01A-11D-2395-08	TCGA-HT-7881-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc49bdb9-54e2-4a0d-9896-cbc1dfb32e26	dc36499d-6903-4254-bbcd-e9dbc544951f	g.chr14:24788316G>A	ENST00000310677.4	-	24	3057	c.2944C>T	c.(2944-2946)Cgc>Tgc	p.R982C	ADCY4_ENST00000554068.2_Missense_Mutation_p.R982C|ADCY4_ENST00000418030.2_Missense_Mutation_p.R982C	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	982					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding|protein binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(265;0.0192)		ACTCGCAGGCGGAAGTTGTTG	0.567													7	124					0	0	1	0	0	A	24788316	G	A	24788316	3	1	286	1	0	0	0	0	1	0	0	0	295	1116	39	1	301	1	ADCY4	14	24788316	Missense_Mutation	SNP	G	TCGA-HT-7881-01A-11D-2395-08		24788316	82561224	13	28515											
ENTPD5	957	broad.mit.edu	37	14	74442654	74442654	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7881-01A-11D-2395-08	TCGA-HT-7881-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc49bdb9-54e2-4a0d-9896-cbc1dfb32e26	dc36499d-6903-4254-bbcd-e9dbc544951f	g.chr14:74442654T>C	ENST00000334696.6	-	10	1026	c.707A>G	c.(706-708)aAg>aGg	p.K236R	ENTPD5_ENST00000557325.1_Missense_Mutation_p.K236R	NM_001249.2	NP_001240.1	O75356	ENTP5_HUMAN	ectonucleoside triphosphate diphosphohydrolase 5	236					'de novo' posttranslational protein folding|ATP metabolic process|cell growth|cell proliferation|glycolysis|protein N-linked glycosylation|regulation of phosphatidylinositol 3-kinase cascade	endoplasmic reticulum lumen	guanosine-diphosphatase activity|uridine-diphosphatase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	10				BRCA - Breast invasive adenocarcinoma(234;0.00394)		TGTATAGAGCTTATAAGTGCT	0.378													9	120					0	0	1	0	0	C	74442654	T	C	74442654	3	2	286	1	0	0	0	0	1	0	0	0	5170	1609	56	3	607	3	ENTPD5	14	74442654	Missense_Mutation	SNP	T	TCGA-HT-7881-01A-11D-2395-08	49654338	74442654	32906886	14	28516											
PLD4	122618	broad.mit.edu	37	14	105399118	105399118	+	Silent	SNP	G	G	A			TCGA-HT-7881-01A-11D-2395-08	TCGA-HT-7881-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc49bdb9-54e2-4a0d-9896-cbc1dfb32e26	dc36499d-6903-4254-bbcd-e9dbc544951f	g.chr14:105399118G>A	ENST00000540372.1	+	11	1551	c.1359G>A	c.(1357-1359)tcG>tcA	p.S453S	PLD4_ENST00000553861.1_Silent_p.S15S|PLD4_ENST00000392593.4_Silent_p.S446S			Q96BZ4	PLD4_HUMAN	phospholipase D family, member 4	446					lipid catabolic process	integral to membrane	NAPE-specific phospholipase D activity|phospholipase D activity			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	13		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.00067)|OV - Ovarian serous cystadenocarcinoma(23;0.00976)|Epithelial(46;0.0201)|GBM - Glioblastoma multiforme(11;0.116)		Choline(DB00122)	CCAACTGGTCGGAGGATTACT	0.736													2	7					0	0	1	0	0	A	105399118	G	A	105399118	2	1	286	1	0	0	0	0	0	0	0	1	12096	1103	39	1		1	PLD4	14	105399118	Silent	SNP	G	TCGA-HT-7881-01A-11D-2395-08	30956464	105399118	1950422	15	28517											
PKD1	5310	broad.mit.edu	37	16	2139950	2139950	+	Silent	SNP	G	G	A	rs148433208	byFrequency	TCGA-HT-7881-01A-11D-2395-08	TCGA-HT-7881-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc49bdb9-54e2-4a0d-9896-cbc1dfb32e26	dc36499d-6903-4254-bbcd-e9dbc544951f	g.chr16:2139950G>A	ENST00000262304.4	-	46	12898	c.12690C>T	c.(12688-12690)aaC>aaT	p.N4230N	PKD1_ENST00000423118.1_Silent_p.N4229N	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	4230					calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						CTGTGGCCTGGTTGAGTCGGT	0.687													4	22					0	0	1	0	0	A	2139950	G	A	2139950	2	1	286	1	0	0	0	0	0	0	0	1	12011	1252	44	2		2	PKD1	16	2139950	Silent	SNP	G	TCGA-HT-7881-01A-11D-2395-08		2139950	88214803	16	28518											
C16orf93	90835	broad.mit.edu	37	16	30770950	30770950	+	Missense_Mutation	SNP	T	T	C	rs62622830	byFrequency	TCGA-HT-7881-01A-11D-2395-08	TCGA-HT-7881-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc49bdb9-54e2-4a0d-9896-cbc1dfb32e26	dc36499d-6903-4254-bbcd-e9dbc544951f	g.chr16:30770950T>C	ENST00000541260.1	-	5	895	c.565A>G	c.(565-567)Aaa>Gaa	p.K189E	C16orf93_ENST00000543610.1_Intron|PHKG2_ENST00000563588.1_3'UTR|PHKG2_ENST00000424889.3_Intron			A1A4V9	CP093_HUMAN	chromosome 16 open reading frame 93	0										breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(6)	11						GGGTAAAGTTTCCAGAATGTT	0.532													4	59					0	0	1	0	0	C	30770950	T	C	30770950	3	2	286	1	0	0	0	0	1	0	0	0	1853	1798	62	3		3	C16orf93	16	30770950	Missense_Mutation	SNP	T	TCGA-HT-7881-01A-11D-2395-08	28631000	30770950	59583803	17	28519											
P2RX1	5023	broad.mit.edu	37	17	3801122	3801122	+	Missense_Mutation	SNP	T	T	C	rs34617528	byFrequency	TCGA-HT-7881-01A-11D-2395-08	TCGA-HT-7881-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc49bdb9-54e2-4a0d-9896-cbc1dfb32e26	dc36499d-6903-4254-bbcd-e9dbc544951f	g.chr17:3801122T>C	ENST00000225538.3	-	12	1460	c.1186A>G	c.(1186-1188)Atg>Gtg	p.M396V		NM_002558.2	NP_002549.1	P51575	P2RX1_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 1	396			M -> V (in dbSNP:rs34617528).		platelet activation	integral to plasma membrane	calcium channel activity|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity			cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	13				LUAD - Lung adenocarcinoma(2;1.9e-05)|Lung(3;0.0173)		GATGTCCTCATGTTCTCCTGC	0.647													4	29					0	0	1	0	0	C	3801122	T	C	3801122	3	2	286	1	0	0	0	0	1	0	0	0	11386	1464	51	3	17	3	P2RX1	17	3801122	Missense_Mutation	SNP	T	TCGA-HT-7881-01A-11D-2395-08		3801122	77394088	18	28520											
ABHD15	116236	broad.mit.edu	37	17	27893250	27893250	+	Silent	SNP	G	G	A			TCGA-HT-7881-01A-11D-2395-08	TCGA-HT-7881-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc49bdb9-54e2-4a0d-9896-cbc1dfb32e26	dc36499d-6903-4254-bbcd-e9dbc544951f	g.chr17:27893250G>A	ENST00000307201.4	-	1	905	c.735C>T	c.(733-735)tcC>tcT	p.S245S	RP11-68I3.2_ENST00000581474.1_RNA	NM_198147.2	NP_937790.2	Q6UXT9	ABH15_HUMAN	abhydrolase domain containing 15	245						extracellular region	carboxylesterase activity			breast(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	10						CGCCCAGGTAGGACAGGAGCA	0.711													3	31					0	0	1	0	0	A	27893250	G	A	27893250	2	1	286	1	0	0	0	0	0	0	0	1	81	987	35	2		2	ABHD15	17	27893250	Silent	SNP	G	TCGA-HT-7881-01A-11D-2395-08	24092128	27893250	53301960	19	28521											
ARHGAP33	115703	broad.mit.edu	37	19	36268762	36268762	+	Silent	SNP	T	T	G			TCGA-HT-7881-01A-11D-2395-08	TCGA-HT-7881-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc49bdb9-54e2-4a0d-9896-cbc1dfb32e26	dc36499d-6903-4254-bbcd-e9dbc544951f	g.chr19:36268762T>G	ENST00000007510.4	+	3	285	c.141T>G	c.(139-141)gcT>gcG	p.A47A	ARHGAP33_ENST00000221905.1_3'UTR|ARHGAP33_ENST00000314737.5_Silent_p.A47A|ARHGAP33_ENST00000378944.5_5'UTR			O14559	RHG33_HUMAN	Rho GTPase activating protein 33	47					cell communication|protein transport|signal transduction	intracellular	GTPase activator activity|phosphatidylinositol binding|protein binding			endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	37						CGCGGCTGGCTGACTGCGCCC	0.592													5	92					0	0	1	0	0	G	36268762	T	G	36268762	2	3	286	1	0	0	0	0	0	0	0	1	879	1567	55	5		5	ARHGAP33	19	36268762	Silent	SNP	T	TCGA-HT-7881-01A-11D-2395-08		36268762	22860221	20	28522											
LTBP4	8425	broad.mit.edu	37	19	41123027	41123027	+	Missense_Mutation	SNP	G	G	A	rs35089561		TCGA-HT-7881-01A-11D-2395-08	TCGA-HT-7881-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc49bdb9-54e2-4a0d-9896-cbc1dfb32e26	dc36499d-6903-4254-bbcd-e9dbc544951f	g.chr19:41123027G>A	ENST00000308370.7	+	24	3167	c.3167G>A	c.(3166-3168)cGg>cAg	p.R1056Q	LTBP4_ENST00000204005.9_Missense_Mutation_p.R1019Q|LTBP4_ENST00000602240.1_3'UTR|LTBP4_ENST00000545697.1_Intron|LTBP4_ENST00000396819.3_Missense_Mutation_p.R989Q|LTBP4_ENST00000243562.9_Missense_Mutation_p.R110Q	NM_001042544.1	NP_001036009.1	Q8N2S1	LTBP4_HUMAN	latent transforming growth factor beta binding protein 4	1056	Cys-rich.|EGF-like 12; calcium-binding (Potential).				growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity			central_nervous_system(1)	1			Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TGCCGGAACCGGTCCTTCTGC	0.622													3	30					0	0	1	0	0	A	41123027	G	A	41123027	3	1	286	1	0	0	0	0	1	0	0	0	9121	1116	39	1	3554	1	LTBP4	19	41123027	Missense_Mutation	SNP	G	TCGA-HT-7881-01A-11D-2395-08	4854265	41123027	18005956	21	28523											
CD93	22918	broad.mit.edu	37	20	23065825	23065825	+	Silent	SNP	C	C	T			TCGA-HT-7881-01A-11D-2395-08	TCGA-HT-7881-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc49bdb9-54e2-4a0d-9896-cbc1dfb32e26	dc36499d-6903-4254-bbcd-e9dbc544951f	g.chr20:23065825C>T	ENST00000246006.4	-	1	1152	c.1005G>A	c.(1003-1005)caG>caA	p.Q335Q		NM_012072.3	NP_036204.2	Q9NPY3	C1QR1_HUMAN	CD93 molecule	335	EGF-like 2.				cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding			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)					TCGAGTCCAGCTGGTACCCTT	0.637													4	63					0	0	1	0	0	T	23065825	C	T	23065825	2	4	286	1	0	0	0	0	0	0	0	1	3069	796	28	2		2	CD93	20	23065825	Silent	SNP	C	TCGA-HT-7881-01A-11D-2395-08		23065825	39959695	22	28524											
CLDN14	23562	broad.mit.edu	37	21	37833827	37833827	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HT-7881-01A-11D-2395-08	TCGA-HT-7881-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc49bdb9-54e2-4a0d-9896-cbc1dfb32e26	dc36499d-6903-4254-bbcd-e9dbc544951f	g.chr21:37833827C>T	ENST00000399137.1	-	3	1033	c.167G>A	c.(166-168)tGg>tAg	p.W56*	AP000695.4_ENST00000428667.1_RNA|CLDN14_ENST00000399136.1_Nonsense_Mutation_p.W56*|CLDN14_ENST00000399135.1_Nonsense_Mutation_p.W56*|CLDN14_ENST00000399139.1_Nonsense_Mutation_p.W56*|AP000695.6_ENST00000429588.1_RNA|CLDN14_ENST00000342108.2_Nonsense_Mutation_p.W56*	NM_144492.2	NP_652763.1	O95500	CLD14_HUMAN	claudin 14	56					calcium-independent cell-cell adhesion|protein complex assembly|tight junction assembly	endoplasmic reticulum|integral to membrane|tight junction	identical protein binding|structural molecule activity			endometrium(1)|lung(5)|skin(1)	7						TGTGCTGTGCCACACACACTC	0.637													5	41					0	0	1	0	0	T	37833827	C	T	37833827	4	4	286	1	0	0	0	0	0	1	0	0	3498	595	21	2	556	2	CLDN14	21	37833827	Nonsense_Mutation	SNP	C	TCGA-HT-7881-01A-11D-2395-08		37833827	10296068	23	28525											
SBF1	6305	broad.mit.edu	37	22	50898008	50898008	+	Silent	SNP	G	G	A			TCGA-HT-7881-01A-11D-2395-08	TCGA-HT-7881-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc49bdb9-54e2-4a0d-9896-cbc1dfb32e26	dc36499d-6903-4254-bbcd-e9dbc544951f	g.chr22:50898008G>A	ENST00000380817.3	-	27	3762	c.3579C>T	c.(3577-3579)ccC>ccT	p.P1193P	SBF1_ENST00000390679.3_Silent_p.P1193P|SBF1_ENST00000348911.6_Silent_p.P1194P	NM_002972.2	NP_002963.2	O95248	MTMR5_HUMAN	SET binding factor 1		Myotubularin phosphatase.				protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		AGCAGACCACGGGGAAGCGGT	0.677													4	48					0	0	1	0	0	A	50898008	G	A	50898008	2	1	286	1	0	0	0	0	0	0	0	1	13911	1103	39	1		1	SBF1	22	50898008	Silent	SNP	G	TCGA-HT-7881-01A-11D-2395-08		50898008	406558	24	28526											
TAS1R2	80834	broad.mit.edu	37	1	19181133	19181133	+	Silent	SNP	G	G	A			TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr1:19181133G>A	ENST00000375371.3	-	3	852	c.831C>T	c.(829-831)ccC>ccT	p.P277P	RP13-279N23.2_ENST00000494072.3_3'UTR	NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2	277					detection of chemical stimulus involved in sensory perception of sweet taste	plasma membrane	protein heterodimerization activity|taste receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	GGGTCAGGTCGGGCGAGAACA	0.632													6	45					0	0	1	0	0	A	19181133	G	A	19181133	2	1	287	1	0	0	0	0	0	0	0	1	15620	1103	39	1		1	TAS1R2	1	19181133	Silent	SNP	G	TCGA-HT-7882-01A-11D-2395-08		19181133	230069488	1	28527											
GLIS1	148979	broad.mit.edu	37	1	53995560	53995560	+	Silent	SNP	C	C	T			TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr1:53995560C>T	ENST00000312233.2	-	4	1427	c.861G>A	c.(859-861)acG>acA	p.T287T		NM_147193.2	NP_671726.2	Q8NBF1	GLIS1_HUMAN	GLIS family zinc finger 1	287					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(3)|urinary_tract(4)	24						GCTTCTCGCCCGTGTGGCTCC	0.637													9	65					0	0	1	0	0	T	53995560	C	T	53995560	2	4	287	1	0	0	0	0	0	0	0	1	6487	639	23	1		1	GLIS1	1	53995560	Silent	SNP	C	TCGA-HT-7882-01A-11D-2395-08	34814427	53995560	195255061	2	28528											
FMO3	2328	broad.mit.edu	37	1	171079965	171079965	+	Silent	SNP	C	C	G			TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr1:171079965C>G	ENST00000367755.4	+	6	765	c.654C>G	c.(652-654)tcC>tcG	p.S218S	FMO3_ENST00000392085.2_Silent_p.S218S|FMO3_ENST00000538429.1_Silent_p.S155S|FMO3_ENST00000542847.1_Silent_p.S198S	NM_001002294.2	NP_001002294.1	P31513	FMO3_HUMAN	flavin containing monooxygenase 3	218					xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity			endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2)	31	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					GAAGTGGCTCCTGGGTGATGA	0.473													10	96					0	0	1	0	0	G	171079965	C	G	171079965	2	3	287	1	0	0	0	0	0	0	0	1	5989	668	24	4		4	FMO3	1	171079965	Silent	SNP	C	TCGA-HT-7882-01A-11D-2395-08	117084405	171079965	78170656	3	28529											
CFH	3075	broad.mit.edu	37	1	196716352	196716352	+	Missense_Mutation	SNP	A	A	T			TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr1:196716352A>T	ENST00000367429.4	+	22	3845	c.3605A>T	c.(3604-3606)aAa>aTa	p.K1202I		NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	1202	Sushi 20.				complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						TTTGTGTGTAAACGGGGATAT	0.383													15	85					0	0	1	0	0	T	196716352	A	T	196716352	3	4	287	1	0	0	0	0	1	0	0	0	3305	14	1	5	3709	5	CFH	1	196716352	Missense_Mutation	SNP	A	TCGA-HT-7882-01A-11D-2395-08	25636387	196716352	52534269	4	28530											
KDM5B	10765	broad.mit.edu	37	1	202702739	202702739	+	Silent	SNP	C	C	T			TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr1:202702739C>T	ENST00000367265.3	-	23	4863	c.3699G>A	c.(3697-3699)ctG>ctA	p.L1233L	KDM5B_ENST00000367264.2_Silent_p.L1269L	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B	1233					negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						CGAGCAGGGGCAGAATTTTCT	0.532													14	68					0	0	1	0	0	T	202702739	C	T	202702739	2	4	287	1	0	0	0	0	0	0	0	1	8177	697	25	2		2	KDM5B	1	202702739	Silent	SNP	C	TCGA-HT-7882-01A-11D-2395-08	5986387	202702739	46547882	5	28531											
OBSCN	84033	broad.mit.edu	37	1	228487678	228487678	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr1:228487678G>A	ENST00000570156.2	+	51	13644	c.13570G>A	c.(13570-13572)Gtg>Atg	p.V4524M	OBSCN_ENST00000359599.6_3'UTR|OBSCN_ENST00000366707.4_Missense_Mutation_p.V1214M|OBSCN_ENST00000366709.4_Intron|OBSCN_ENST00000602685.1_3'UTR|OBSCN_ENST00000422127.1_Intron|RP5-1139B12.4_ENST00000602778.1_RNA|OBSCN_ENST00000284548.11_Intron	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	3567	Fibronectin type-III 3.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GGCGGCCCCCGTGGAGTGGAG	0.557													9	55					0	0	1	0	0	A	228487678	G	A	228487678	3	1	287	1	0	0	0	0	1	0	0	0	10860	1160	40	1		1	OBSCN	1	228487678	Missense_Mutation	SNP	G	TCGA-HT-7882-01A-11D-2395-08	25784939	228487678	20762943	6	28532											
OR13G1	441933	broad.mit.edu	37	1	247835492	247835492	+	Silent	SNP	C	C	T			TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr1:247835492C>T	ENST00000359688.2	-	1	873	c.852G>A	c.(850-852)ccG>ccA	p.P284P	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005487.1	NP_001005487.1	Q8NGZ3	O13G1_HUMAN	olfactory receptor, family 13, subfamily G, member 1	284					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(28)|skin(2)	35	all_cancers(71;3.24e-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)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			TGTACACCATCGGGTTTAATG	0.438													16	81					0	0	1	0	0	T	247835492	C	T	247835492	2	4	287	1	0	0	0	0	0	0	0	1	10990	871	31	1		1	OR13G1	1	247835492	Silent	SNP	C	TCGA-HT-7882-01A-11D-2395-08	19347814	247835492	1415129	7	28533											
DPP10	57628	broad.mit.edu	37	2	116497433	116497433	+	Silent	SNP	G	G	A			TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr2:116497433G>A	ENST00000410059.1	+	9	1296	c.816G>A	c.(814-816)gcG>gcA	p.A272A	DPP10_ENST00000393147.2_Silent_p.A276A|DPP10_ENST00000409163.1_Silent_p.A222A|DPP10_ENST00000310323.8_Silent_p.A265A	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	272					proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						TTACTGGAGCGTTGTATCCCA	0.458													19	119					0	0	1	0	0	A	116497433	G	A	116497433	2	1	287	1	0	0	0	0	0	0	0	1	4753	1132	40	1		1	DPP10	2	116497433	Silent	SNP	G	TCGA-HT-7882-01A-11D-2395-08		116497433	126701940	8	28534											
POTEE	445582	broad.mit.edu	37	2	131976382	131976382	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr2:131976382G>A	ENST00000356920.5	+	1	501	c.407G>A	c.(406-408)cGt>cAt	p.R136H	PLEKHB2_ENST00000303908.3_Intron|PLEKHB2_ENST00000404460.1_Intron|POTEE_ENST00000358087.5_Missense_Mutation_p.R136H	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	136							ATP binding										TACCACGTCCGTGGAGAAGAT	0.592													13	90					0	0	1	0	0	A	131976382	G	A	131976382	3	1	287	1	0	0	0	0	1	0	0	0	12311	1145	40	1	409	1	POTEE	2	131976382	Missense_Mutation	SNP	G	TCGA-HT-7882-01A-11D-2395-08	15478949	131976382	111222991	9	28535											
CWC22	57703	broad.mit.edu	37	2	180810177	180810177	+	Silent	SNP	A	A	G			TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr2:180810177A>G	ENST00000410053.3	-	20	2705	c.2406T>C	c.(2404-2406)aaT>aaC	p.N802N	CWC22_ENST00000295749.6_Silent_p.N802N	NM_020943.2	NP_065994.1	Q9HCG8	CWC22_HUMAN	CWC22 spliceosome-associated protein homolog (S. cerevisiae)	802						catalytic step 2 spliceosome	protein binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(8)|stomach(1)	30						GGTCTCTGTCATTCGCAACTC	0.353													9	117					0	0	1	0	0	G	180810177	A	G	180810177	2	3	287	1	0	0	0	0	0	0	0	1	4091	214	8	3		3	CWC22	2	180810177	Silent	SNP	A	TCGA-HT-7882-01A-11D-2395-08	48833795	180810177	62389196	10	28536											
CEP97	79598	broad.mit.edu	37	3	101476897	101476897	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr3:101476897C>T	ENST00000341893.3	+	9	2199	c.1447C>T	c.(1447-1449)Cct>Tct	p.P483S	CEP97_ENST00000494050.1_Missense_Mutation_p.P424S|CEP97_ENST00000327230.4_Missense_Mutation_p.P483S			Q8IW35	CEP97_HUMAN	centrosomal protein 97kDa	483	CEP110 binding.					centrosome|nucleus	protein binding			cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29						TGGACTATTACCTTGTCCTGA	0.378													16	75					0	0	1	0	0	T	101476897	C	T	101476897	3	4	287	1	0	0	0	0	1	0	0	0	3285	507	18	2	1481	2	CEP97	3	101476897	Missense_Mutation	SNP	C	TCGA-HT-7882-01A-11D-2395-08		101476897	96545533	11	28537											
PIK3CA	5290	broad.mit.edu	37	3	178922364	178922364	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr3:178922364G>A	ENST00000263967.3	+	6	1290	c.1133G>A	c.(1132-1134)tGt>tAt	p.C378Y		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	378	C2 PI3K-type.				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.C378Y(2)|p.C378F(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			AGAGTACCTTGTTCCAATCCC	0.328		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			4	49					0	0	1	0	0	A	178922364	G	A	178922364	3	1	287	1	0	0	0	0	1	0	0	0	11961	1377	48	2	1151	2	PIK3CA	3	178922364	Missense_Mutation	SNP	G	TCGA-HT-7882-01A-11D-2395-08	77445467	178922364	19100066	12	28538											
B3GNT5	84002	broad.mit.edu	37	3	182988131	182988131	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr3:182988131A>G	ENST00000326505.3	+	2	1075	c.545A>G	c.(544-546)tAt>tGt	p.Y182C	B3GNT5_ENST00000460419.1_Missense_Mutation_p.Y182C|MCF2L2_ENST00000473233.1_Intron|MCF2L2_ENST00000447025.2_Intron|MCF2L2_ENST00000328913.3_Intron|B3GNT5_ENST00000465010.1_Missense_Mutation_p.Y182C	NM_032047.4	NP_114436.1	Q9BYG0	B3GN5_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 5	182					central nervous system development|glycolipid biosynthetic process|protein glycosylation	Golgi membrane|integral to membrane	beta-galactosyl-N-acetylglucosaminylgalactosylglucosyl-ceramide beta-1,3-acetylglucosaminyltransferase activity|galactosyltransferase activity			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	8	all_cancers(143;8.52e-13)|Ovarian(172;0.0355)		all cancers(12;4.52e-44)|Epithelial(37;8.82e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			GCAAATACCTATTGTCCACAT	0.333													19	82					0	0	1	0	0	G	182988131	A	G	182988131	3	3	287	1	0	0	0	0	1	0	0	0	1258	449	16	3	547	3	B3GNT5	3	182988131	Missense_Mutation	SNP	A	TCGA-HT-7882-01A-11D-2395-08	4065767	182988131	15034299	13	28539											
PDGFRA	5156	broad.mit.edu	37	4	55131161	55131161	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr4:55131161G>A	ENST00000257290.5	+	5	1035	c.704G>A	c.(703-705)tGt>tAt	p.C235Y	FIP1L1_ENST00000507166.1_Intron|PDGFRA_ENST00000508170.1_3'UTR	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	235	Ig-like C2-type 3.				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity	p.C235Y(1)		NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	GTGGTCACCTGTGCTGTTTTT	0.443			"Mis, O, T"	FIP1L1	"GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			510	129					0	0	1	0	0	A	55131161	G	A	55131161	3	1	287	1	0	0	0	0	1	0	0	0	11708	1377	48	2	718	2	PDGFRA	4	55131161	Missense_Mutation	SNP	G	TCGA-HT-7882-01A-11D-2395-08		55131161	136023115	14	28540											
TET2	54790	broad.mit.edu	37	4	106157894	106157894	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr4:106157894A>G	ENST00000513237.1	+	3	3655	c.2858A>G	c.(2857-2859)gAc>gGc	p.D953G	TET2_ENST00000305737.2_Missense_Mutation_p.D932G|TET2_ENST00000540549.1_Missense_Mutation_p.D932G|TET2_ENST00000413648.2_Missense_Mutation_p.D932G|TET2_ENST00000545826.1_Missense_Mutation_p.D932G|TET2_ENST00000394764.1_Missense_Mutation_p.D932G|TET2_ENST00000380013.4_Missense_Mutation_p.D932G			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	932	Gln-rich.				cell cycle|myeloid cell differentiation		metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		CCTGTGCCTGACCAGGGAGGA	0.453			"Mis N, F"		MDS								12	37					0	0	1	0	0	G	106157894	A	G	106157894	3	3	287	1	0	0	0	0	1	0	0	0	15829	275	10	3	2797	3	TET2	4	106157894	Missense_Mutation	SNP	A	TCGA-HT-7882-01A-11D-2395-08	51026733	106157894	84996382	15	28541											
SLC6A3	6531	broad.mit.edu	37	5	1406358	1406358	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr5:1406358C>T	ENST00000270349.9	-	12	1671	c.1544G>A	c.(1543-1545)cGg>cAg	p.R515Q	SLC6A3_ENST00000453492.2_Missense_Mutation_p.R515Q	NM_001044.4	NP_001035.1	Q01959	SC6A3_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 3	515					cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body				breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)	CAGGCTGGGCCGCTGCCCGGT	0.652													9	114					0	0	1	0	0	T	1406358	C	T	1406358	3	4	287	1	0	0	0	0	1	0	0	0	14740	652	23	1	334	1	SLC6A3	5	1406358	Missense_Mutation	SNP	C	TCGA-HT-7882-01A-11D-2395-08		1406358	179508902	16	28542			1	28		2	2	29	C		5.065004e-05
SLC6A3	6531	broad.mit.edu	37	5	1406386	1406386	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr5:1406386C>T	ENST00000270349.9	-	12	1643	c.1516G>A	c.(1516-1518)Gac>Aac	p.D506N	SLC6A3_ENST00000453492.2_Missense_Mutation_p.D506N	NM_001044.4	NP_001035.1	Q01959	SC6A3_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 3	506					cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body				breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)	TGGATGTCGTCGCTGAACTGC	0.642													11	117					0	0	1	0	0	T	1406386	C	T	1406386	3	4	287	1	0	0	0	0	1	0	0	0	14740	884	31	1	362	1	SLC6A3	5	1406386	Missense_Mutation	SNP	C	TCGA-HT-7882-01A-11D-2395-08	28	1406386	179508874	17	28543			1	28		2	2	29	C		5.065004e-05
CDC20B	166979	broad.mit.edu	37	5	54424345	54424345	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr5:54424345G>T	ENST00000334206.5	-	7	974	c.798C>A	c.(796-798)aaC>aaA	p.N266K	CDC20B_ENST00000381375.2_Missense_Mutation_p.N266K|CDC20B_ENST00000322374.6_Missense_Mutation_p.N266K|CDC20B_ENST00000296733.1_Missense_Mutation_p.N266K			Q86Y33	CD20B_HUMAN	cell division cycle 20B	266										kidney(1)|large_intestine(5)|lung(7)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	19		Lung NSC(810;0.000744)|Breast(144;0.159)|Prostate(74;0.194)	LUSC - Lung squamous cell carcinoma(15;0.225)			TTAAGTCTATGTTTTCAATCC	0.448													8	68					0.00448238	0.00460034	1	1	0	T	54424345	G	T	54424345	3	4	287	1	0	0	0	0	1	0	0	0	3082	1368	48	5	785	5	CDC20B	5	54424345	Missense_Mutation	SNP	G	TCGA-HT-7882-01A-11D-2395-08	53017959	54424345	126490915	18	28544											
GPR98	84059	broad.mit.edu	37	5	89979459	89979459	+	Silent	SNP	T	T	C			TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr5:89979459T>C	ENST00000405460.2	+	28	5817	c.5721T>C	c.(5719-5721)tcT>tcC	p.S1907S		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	1907					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		ACATAGACTCTGATCCTGATG	0.403													3	25					0	0	1	0	0	C	89979459	T	C	89979459	2	2	287	1	0	0	0	0	0	0	0	1	6762	1567	55	3		3	GPR98	5	89979459	Silent	SNP	T	TCGA-HT-7882-01A-11D-2395-08	35555114	89979459	90935801	19	28545											
SLCO4C1	353189	broad.mit.edu	37	5	101582955	101582955	+	Splice_Site	SNP	C	C	A			TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr5:101582955C>A	ENST00000310954.6	-	10	2098		c.e10+1			NM_180991.4	NP_851322.3	Q6ZQN7	SO4C1_HUMAN	solute carrier organic anion transporter family, member 4C1						cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		GTGCTACATACCTTAGGATAG	0.378													9	48					3.09899e-07	3.2665e-07	1	1	0	A	101582955	C	A	101582955	5	1	287	1	0	0	0	0	0	0	1	0	14785	521	18	5	378	5	SLCO4C1	5	101582955	Splice_Site	SNP	C	TCGA-HT-7882-01A-11D-2395-08	11603496	101582955	79332305	20	28546											
C6orf10	10665	broad.mit.edu	37	6	32261388	32261388	+	Silent	SNP	C	C	T			TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr6:32261388C>T	ENST00000375015.4	-	26	1259	c.1059G>A	c.(1057-1059)acG>acA	p.T353T	C6orf10_ENST00000447241.2_Silent_p.T354T|C6orf10_ENST00000375007.4_Silent_p.T352T|C6orf10_ENST00000442822.2_Silent_p.T345T|C6orf10_ENST00000527965.1_Silent_p.T338T|C6orf10_ENST00000533191.1_Silent_p.T352T			Q5SRN2	CF010_HUMAN	chromosome 6 open reading frame 10	354						integral to membrane				cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	25						ACCCACTCTTCGTTACTTGGG	0.468													20	124					0	0	1	0	0	T	32261388	C	T	32261388	2	4	287	1	0	0	0	0	0	0	0	1	2331	871	31	1		1	C6orf10	6	32261388	Silent	SNP	C	TCGA-HT-7882-01A-11D-2395-08		32261388	138853679	21	28547											
TEAD3	7005	broad.mit.edu	37	6	35445110	35445110	+	Silent	SNP	C	C	T			TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr6:35445110C>T	ENST00000338863.7	-	8	797	c.570G>A	c.(568-570)ccG>ccA	p.P190P	TEAD3_ENST00000402886.3_Silent_p.P130P	NM_003214.3	NP_003205	Q99594	TEAD3_HUMAN	TEA domain family member 3	190	Pro-rich.|Transcriptional activation (Potential).				female pregnancy|hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	10						GCGGCAGGGGCGGCTGGATGG	0.627													3	20					0	0	1	0	0	T	35445110	C	T	35445110	2	4	287	1	0	0	0	0	0	0	0	1	15799	755	27	1		1	TEAD3	6	35445110	Silent	SNP	C	TCGA-HT-7882-01A-11D-2395-08	3183722	35445110	135669957	22	28548											
PRSS35	167681	broad.mit.edu	37	6	84233953	84233953	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr6:84233953C>T	ENST00000536636.1	+	3	1138	c.793C>T	c.(793-795)Cga>Tga	p.R265*	PRSS35_ENST00000369700.3_Nonsense_Mutation_p.R265*	NM_001170423.1	NP_001163894.1	Q8N3Z0	PRS35_HUMAN	protease, serine, 35	265	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(2)|endometrium(2)|large_intestine(12)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	32		all_cancers(76;0.000113)|Acute lymphoblastic leukemia(125;1.09e-08)|all_hematologic(105;3.12e-05)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0768)		GGGCTGGGCACGAGGAGGCAT	0.527													8	60					0	0	1	0	0	T	84233953	C	T	84233953	4	4	287	1	0	0	0	0	0	1	0	0	12673	528	19	1	795	1	PRSS35	6	84233953	Nonsense_Mutation	SNP	C	TCGA-HT-7882-01A-11D-2395-08	48788843	84233953	86881114	23	28549											
SAMD3	154075	broad.mit.edu	37	6	130497110	130497110	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr6:130497110C>T	ENST00000532763.1	-	7	821	c.692G>A	c.(691-693)cGa>cAa	p.R231Q	SAMD3_ENST00000457563.2_Missense_Mutation_p.R257Q|SAMD3_ENST00000533296.1_5'UTR|SAMD3_ENST00000439090.2_Missense_Mutation_p.R233Q|SAMD3_ENST00000368134.2_Missense_Mutation_p.R233Q|SAMD3_ENST00000437477.2_Missense_Mutation_p.R233Q			Q8N6K7	SAMD3_HUMAN	sterile alpha motif domain containing 3	233										breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(15)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	29				GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128)		TATGGGTCTTCGAACATATTT	0.343													9	43					0	0	1	0	0	T	130497110	C	T	130497110	3	4	287	1	0	0	0	0	1	0	0	0	13872	884	31	1	884	1	SAMD3	6	130497110	Missense_Mutation	SNP	C	TCGA-HT-7882-01A-11D-2395-08	46263157	130497110	40617957	24	28550											
PDE7B	27115	broad.mit.edu	37	6	136494954	136494954	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr6:136494954A>G	ENST00000308191.6	+	9	1034	c.731A>G	c.(730-732)aAt>aGt	p.N244S	RP13-143G15.4_ENST00000591521.1_RNA|RP13-143G15.4_ENST00000585946.1_RNA|RP13-143G15.4_ENST00000417643.1_RNA	NM_018945.3	NP_061818.1	Q9NP56	PDE7B_HUMAN	phosphodiesterase 7B	244	Catalytic (By similarity).				signal transduction|synaptic transmission	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(1)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Colorectal(23;0.24)			OV - Ovarian serous cystadenocarcinoma(155;0.0136)|GBM - Glioblastoma multiforme(68;0.0147)	Dyphylline(DB00651)|Ketotifen(DB00920)	GTGCTGGAGAATCATCACTGG	0.428													10	40					0	0	1	0	0	G	136494954	A	G	136494954	3	3	287	1	0	0	0	0	1	0	0	0	11699	101	4	3	765	3	PDE7B	6	136494954	Missense_Mutation	SNP	A	TCGA-HT-7882-01A-11D-2395-08	5997844	136494954	34620113	25	28551											
PPP1R3A	5506	broad.mit.edu	37	7	113517983	113517983	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr7:113517983G>A	ENST00000284601.3	-	4	3232	c.3164C>T	c.(3163-3165)cCt>cTt	p.P1055L		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	1055					glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						TTCCTCAACAGGAAGACTAGT	0.363													18	150					0	0	1	0	0	A	113517983	G	A	113517983	3	1	287	1	0	0	0	0	1	0	0	0	12420	1000	35	2	208	2	PPP1R3A	7	113517983	Missense_Mutation	SNP	G	TCGA-HT-7882-01A-11D-2395-08		113517983	45620680	26	28552											
ASZ1	136991	broad.mit.edu	37	7	117067417	117067417	+	Missense_Mutation	SNP	G	G	A	rs113501399		TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr7:117067417G>A	ENST00000284629.2	-	1	160	c.98C>T	c.(97-99)aCg>aTg	p.T33M		NM_130768.2	NP_570124.1	Q8WWH4	ASZ1_HUMAN	ankyrin repeat, SAM and basic leucine zipper domain containing 1	33					cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	signal transducer activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(3)|skin(1)	24	Lung NSC(10;0.00156)|all_lung(10;0.00175)		STAD - Stomach adenocarcinoma(10;0.000512)			TACCTGAGACGTCCGGTCGAG	0.657													24	148					0	0	1	0	0	A	117067417	G	A	117067417	3	1	287	1	0	0	0	0	1	0	0	0	1068	1145	40	1	1381	1	ASZ1	7	117067417	Missense_Mutation	SNP	G	TCGA-HT-7882-01A-11D-2395-08	3549434	117067417	42071246	27	28553											
TAS2R40	259286	broad.mit.edu	37	7	142919425	142919425	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr7:142919425G>A	ENST00000408947.3	+	1	296	c.254G>A	c.(253-255)cGa>cAa	p.R85Q		NM_176882.1	NP_795363.1	P59535	T2R40_HUMAN	taste receptor, type 2, member 40	85					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	8	Melanoma(164;0.059)					CTGCTATTCCGAATTGTTTAT	0.433													12	113					0	0	1	0	0	A	142919425	G	A	142919425	3	1	287	1	0	0	0	0	1	0	0	0	15635	1058	37	1	256	1	TAS2R40	7	142919425	Missense_Mutation	SNP	G	TCGA-HT-7882-01A-11D-2395-08	25852008	142919425	16219238	28	28554											
EFCAB1	79645	broad.mit.edu	37	8	49643961	49643961	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr8:49643961G>A	ENST00000262103.3	-	2	240	c.160C>T	c.(160-162)Cga>Tga	p.R54*	EFCAB1_ENST00000433756.1_Intron|EFCAB1_ENST00000521002.1_Intron|EFCAB1_ENST00000523092.1_Intron	NM_024593.3	NP_078869.1	Q9HAE3	EFCB1_HUMAN	EF-hand calcium binding domain 1	54							calcium ion binding			endometrium(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(2)	14		all_epithelial(80;0.0134)|Lung NSC(129;0.0207)|all_lung(136;0.0464)				AGGATGTTTCGAAATGCATTA	0.393													6	31					0	0	1	0	0	A	49643961	G	A	49643961	4	1	287	1	0	0	0	0	0	1	0	0	4959	1066	37	1	495	1	EFCAB1	8	49643961	Nonsense_Mutation	SNP	G	TCGA-HT-7882-01A-11D-2395-08		49643961	96720061	29	28555											
ASS1	445	broad.mit.edu	37	9	133333962	133333962	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr9:133333962G>A	ENST00000372394.1	+	5	830	c.349G>A	c.(349-351)Ggc>Agc	p.G117S	ASS1_ENST00000352480.5_Missense_Mutation_p.G117S|ASS1_ENST00000372393.3_Missense_Mutation_p.G117S			P00966	ASSY_HUMAN	argininosuccinate synthase 1	117			G -> D (in CTLN1).|G -> S (in CTLN1).		arginine biosynthetic process|urea cycle	cytosol	argininosuccinate synthase activity|ATP binding|protein binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	17				OV - Ovarian serous cystadenocarcinoma(145;0.000514)	Adenosine triphosphate(DB00171)|L-Arginine(DB00125)|L-Aspartic Acid(DB00128)|L-Citrulline(DB00155)	TGTGTCCCACGGCGCCACAGG	0.657													5	22					0	0	1	0	0	A	133333962	G	A	133333962	3	1	287	1	0	0	0	0	1	0	0	0	1060	1116	39	1	359	1	ASS1	9	133333962	Missense_Mutation	SNP	G	TCGA-HT-7882-01A-11D-2395-08		133333962	7879469	30	28556											
SURF2	6835	broad.mit.edu	37	9	136227174	136227174	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr9:136227174C>T	ENST00000371964.4	+	5	592	c.551C>T	c.(550-552)aCg>aTg	p.T184M		NM_017503.3	NP_059973.4	Q15527	SURF2_HUMAN	surfeit 2	184							protein binding			breast(1)|large_intestine(1)|lung(4)	6				OV - Ovarian serous cystadenocarcinoma(145;4.87e-07)|Epithelial(140;4.02e-06)|all cancers(34;3.71e-05)		CTTGGAAGCACGGAGGATGGG	0.527													4	49					0	0	1	0	0	T	136227174	C	T	136227174	3	4	287	1	0	0	0	0	1	0	0	0	15460	536	19	1	569	1	SURF2	9	136227174	Missense_Mutation	SNP	C	TCGA-HT-7882-01A-11D-2395-08	2893212	136227174	4986257	31	28557											
PNLIPRP1	5407	broad.mit.edu	37	10	118364948	118364948	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr10:118364948T>C	ENST00000528052.1	+	12	1294	c.1223T>C	c.(1222-1224)cTg>cCg	p.L408P	PNLIPRP1_ENST00000534537.1_Missense_Mutation_p.L408P|PNLIPRP1_ENST00000358834.4_Missense_Mutation_p.L408P			P54315	LIPR1_HUMAN	pancreatic lipase-related protein 1	408	PLAT.				lipid metabolic process		calcium ion binding|triglyceride lipase activity			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	38				all cancers(201;0.0161)		GATGCAAAGCTGGATGTTGGA	0.413													6	89					0	0	1	0	0	C	118364948	T	C	118364948	3	2	287	1	0	0	0	0	1	0	0	0	12198	1580	55	3	1265	3	PNLIPRP1	10	118364948	Missense_Mutation	SNP	T	TCGA-HT-7882-01A-11D-2395-08		118364948	17169799	32	28558											
MKI67	4288	broad.mit.edu	37	10	129902797	129902797	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr10:129902797T>C	ENST00000368654.3	-	13	7682	c.7307A>G	c.(7306-7308)gAc>gGc	p.D2436G	MKI67_ENST00000368653.3_Missense_Mutation_p.D2076G	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	2436	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				GCCAACCAGGTCCTCTAGAGC	0.473													25	101					0	0	1	0	0	C	129902797	T	C	129902797	3	2	287	1	0	0	0	0	1	0	0	0	9646	1667	58	3	2475	3	MKI67	10	129902797	Missense_Mutation	SNP	T	TCGA-HT-7882-01A-11D-2395-08	11537849	129902797	5631950	33	28559											
CCKBR	887	broad.mit.edu	37	11	6292257	6292257	+	Silent	SNP	C	C	T			TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr11:6292257C>T	ENST00000525462.1	+	4	1038	c.1035C>T	c.(1033-1035)aaC>aaT	p.N345N	CCKBR_ENST00000532715.1_Silent_p.N192N|CCKBR_ENST00000334619.2_Silent_p.N276N|CCKBR_ENST00000532396.1_3'UTR			P32239	GASR_HUMAN	cholecystokinin B receptor	276					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cell proliferation|digestion|elevation of cytosolic calcium ion concentration|feeding behavior|positive regulation of cell proliferation|sensory perception		1-phosphatidylinositol-3-kinase regulator activity|gastrin receptor activity|phosphatidylinositol phospholipase C activity|type B gastrin/cholecystokinin receptor binding			NS(2)|breast(2)|endometrium(4)|kidney(13)|large_intestine(10)|lung(22)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	Pentagastrin(DB00183)	TTCACCAGAACGGGCGTTGCC	0.662													13	110					0	0	1	0	0	T	6292257	C	T	6292257	2	4	287	1	0	0	0	0	0	0	0	1	2901	535	19	1		1	CCKBR	11	6292257	Silent	SNP	C	TCGA-HT-7882-01A-11D-2395-08		6292257	128714259	34	28560											
MADD	8567	broad.mit.edu	37	11	47304014	47304014	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr11:47304014C>T	ENST00000342922.4	+	9	1909	c.1552C>T	c.(1552-1554)Cgg>Tgg	p.R518W	MADD_ENST00000395336.3_Missense_Mutation_p.R518W|MADD_ENST00000489415.1_3'UTR|MADD_ENST00000395344.3_Missense_Mutation_p.R518W|MADD_ENST00000402799.1_Missense_Mutation_p.R518W|MADD_ENST00000407859.3_Missense_Mutation_p.R518W|MADD_ENST00000349238.3_Missense_Mutation_p.R518W|MADD_ENST00000406482.1_Missense_Mutation_p.R518W|MADD_ENST00000311027.5_Missense_Mutation_p.R518W|MADD_ENST00000402192.2_Missense_Mutation_p.R518W	NM_130470.2	NP_569826.2	Q8WXG6	MADD_HUMAN	MAP-kinase activating death domain	518	dDENN.				activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle	cytoplasm|integral to membrane|plasma membrane	death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity			breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84				Lung(87;0.182)		CCTCTTTCCTCGGCCTGTGGT	0.562													10	85					0	0	1	0	0	T	47304014	C	T	47304014	3	4	287	1	0	0	0	0	1	0	0	0	9198	875	31	1	1582	1	MADD	11	47304014	Missense_Mutation	SNP	C	TCGA-HT-7882-01A-11D-2395-08	41011757	47304014	87702502	35	28561											
OR4P4	81300	broad.mit.edu	37	11	55406511	55406511	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr11:55406511C>A	ENST00000314612.2	+	1	678	c.678C>A	c.(676-678)taC>taA	p.Y226*		NM_001004124.1	NP_001004124.1	Q8NGL7	OR4P4_HUMAN	olfactory receptor, family 4, subfamily P, member 4	226					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1)	40						TCAGAGCATACTCTGCAGAGA	0.388													6	62					3.59834e-05	3.74227e-05	1	1	0	A	55406511	C	A	55406511	4	1	287	1	0	0	0	0	0	1	0	0	11128	576	20	4	680	4	OR4P4	11	55406511	Nonsense_Mutation	SNP	C	TCGA-HT-7882-01A-11D-2395-08	8102497	55406511	79600005	36	28562											
OR5L1	219437	broad.mit.edu	37	11	55579059	55579059	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr11:55579059G>T	ENST00000333973.2	+	1	206	c.117G>T	c.(115-117)ttG>ttT	p.L39F		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, member 1	39					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				GAGTCACGTTGTTAGCCAACC	0.507													33	209					4.74835e-14	5.07358e-14	1	1	0	T	55579059	G	T	55579059	3	4	287	1	0	0	0	0	1	0	0	0	11217	1368	48	5	119	5	OR5L1	11	55579059	Missense_Mutation	SNP	G	TCGA-HT-7882-01A-11D-2395-08	172548	55579059	79427457	37	28563											
DYNC2H1	79659	broad.mit.edu	37	11	102995846	102995846	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr11:102995846G>A	ENST00000375735.2	+	12	1823	c.1679G>A	c.(1678-1680)cGa>cAa	p.R560Q	DYNC2H1_ENST00000398093.3_Missense_Mutation_p.R560Q|DYNC2H1_ENST00000334267.7_Missense_Mutation_p.R560Q	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	560	Stem (By similarity).				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		GCTAGTAGTCGAATTATGGAA	0.333													7	14					0	0	1	0	0	A	102995846	G	A	102995846	3	1	287	1	0	0	0	0	1	0	0	0	4872	1058	37	1	1725	1	DYNC2H1	11	102995846	Missense_Mutation	SNP	G	TCGA-HT-7882-01A-11D-2395-08	47416787	102995846	32010670	38	28564											
NAV3	89795	broad.mit.edu	37	12	78401085	78401105	+	In_Frame_Del	DEL	CCAAGCTTCTCCTTCTGGTTC	CCAAGCTTCTCCTTCTGGTTC	-			TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr12:78401085_78401105delCCAAGCTTCTCCTTCTGGTTC	ENST00000397909.2	+	8	1940_1960	c.1767_1787delCCAAGCTTCTCCTTCTGGTTC	c.(1765-1788)ggccaagcttctccttctggttcc>ggc	p.QASPSGS590del	NAV3_ENST00000228327.6_In_Frame_Del_p.QASPSGS590del|NAV3_ENST00000266692.7_In_Frame_Del_p.QASPSGS590del|NAV3_ENST00000536525.2_In_Frame_Del_p.QASPSGS590del			Q8IVL0	NAV3_HUMAN	neuron navigator 3	590						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						GGGAAGCTGGCCAAGCTTCTCCTTCTGGTTCCTGTACCATG	0.534										HNSCC(70;0.22)			7	119	---	---	---	---						-	78401105	CCAAGCTTCTCCTTCTGGTTC	-	78401085	7	5	287	1	0	1	0	1	0	0	0	0	10233	726	26	0	1797	0	NAV3	12	78401085	In_Frame_Del	DEL	CCAAGCTTCTCCTTCTGGTTC	TCGA-HT-7882-01A-11D-2395-08		78401085	55450810	39	28565											
RASAL1	8437	broad.mit.edu	37	12	113539707	113539707	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr12:113539707G>A	ENST00000546530.1	-	20	2500	c.2215C>T	c.(2215-2217)Cgg>Tgg	p.R739W	RASAL1_ENST00000446861.3_Missense_Mutation_p.R709W|RASAL1_ENST00000548055.1_Missense_Mutation_p.R738W|RASAL1_ENST00000261729.5_Missense_Mutation_p.R737W	NM_001193520.1|NM_004658.2	NP_001180449.1|NP_004649.2	O95294	RASL1_HUMAN	RAS protein activator like 1 (GAP1 like)	737					intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	metal ion binding|phospholipid binding|Ras GTPase activator activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2)	43						AGCTGGTCCCGCCCCAGGAGC	0.627													5	47					0	0	1	0	0	A	113539707	G	A	113539707	3	1	287	1	0	0	0	0	1	0	0	0	13115	1086	38	1	217	1	RASAL1	12	113539707	Missense_Mutation	SNP	G	TCGA-HT-7882-01A-11D-2395-08	35138622	113539707	20312188	40	28566											
BRF1	2972	broad.mit.edu	37	14	105688184	105688184	+	Silent	SNP	G	G	A			TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr14:105688184G>A	ENST00000546474.1	-	11	16075	c.1116C>T	c.(1114-1116)gcC>gcT	p.A372A	BRF1_ENST00000446501.2_Silent_p.A134A|BRF1_ENST00000547530.1_5'UTR|BRF1_ENST00000379932.4_Intron|BRF1_ENST00000551787.1_Intron|BRF1_ENST00000440513.3_Silent_p.A257A|BRF1_ENST00000327359.3_Silent_p.A257A|BRF1_ENST00000379937.2_Silent_p.A345A|BRF1_ENST00000392557.4_Silent_p.A168A	NM_001242787.1|NM_001519.3	NP_001229716.1|NP_001510.2	Q92994	TF3B_HUMAN	BRF1, RNA polymerase III transcription initiation factor 90 kDa subunit	372					positive regulation of transcription, DNA-dependent|rRNA transcription|transcription initiation from RNA polymerase III promoter|tRNA transcription	transcription factor TFIIIB complex	translation initiation factor activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	24		all_cancers(154;0.0231)|all_epithelial(191;0.0694)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00753)|all cancers(16;0.00925)|Epithelial(46;0.0221)	Epithelial(152;0.14)		GGCTGGCCGCGGCTTCCAGCT	0.637													4	21					0	0	1	0	0	A	105688184	G	A	105688184	2	1	287	1	0	0	0	0	0	0	0	1	1512	1103	39	1		1	BRF1	14	105688184	Silent	SNP	G	TCGA-HT-7882-01A-11D-2395-08		105688184	1661356	41	28567											
ATP10A	57194	broad.mit.edu	37	15	25959052	25959052	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr15:25959052A>G	ENST00000356865.6	-	10	2224	c.2113T>C	c.(2113-2115)Tat>Cat	p.Y705H		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	705					ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		CTGGCCGCATACACCAGTGCG	0.662													21	86					0	0	1	0	0	G	25959052	A	G	25959052	3	3	287	1	0	0	0	0	1	0	0	0	1115	391	14	3	2434	3	ATP10A	15	25959052	Missense_Mutation	SNP	A	TCGA-HT-7882-01A-11D-2395-08		25959052	76572340	42	28568											
HS3ST6	64711	broad.mit.edu	37	16	1962006	1962006	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr16:1962006C>T	ENST00000454677.2	-	2	730	c.665G>A	c.(664-666)cGc>cAc	p.R222H	HS3ST6_ENST00000293937.3_Missense_Mutation_p.R205H|HS3ST6_ENST00000443547.1_Missense_Mutation_p.R174H			C9JH64	C9JH64_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 6	174										endometrium(2)|lung(2)	4						GGCCAGGGCGCGGAAGCTGGG	0.716													9	42					0	0	1	0	0	T	1962006	C	T	1962006	3	4	287	1	0	0	0	0	1	0	0	0	7410	768	27	1	418	1	HS3ST6	16	1962006	Missense_Mutation	SNP	C	TCGA-HT-7882-01A-11D-2395-08		1962006	88392747	43	28569											
ZZEF1	23140	broad.mit.edu	37	17	3937518	3937518	+	Silent	SNP	G	G	A	rs35511240	byFrequency	TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr17:3937518G>A	ENST00000381638.2	-	40	6499	c.6375C>T	c.(6373-6375)aaC>aaT	p.N2125N		NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	2125							calcium ion binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						GGTGGCCTGCGTTTGAGATGA	0.527													6	72					0	0	1	0	0	A	3937518	G	A	3937518	2	1	287	1	0	0	0	0	0	0	0	1	18295	1136	40	1		1	ZZEF1	17	3937518	Silent	SNP	G	TCGA-HT-7882-01A-11D-2395-08		3937518	77257692	44	28570											
FBXW10	10517	broad.mit.edu	37	17	18675863	18675866	+	Frame_Shift_Del	DEL	TCTC	TCTC	-			TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr17:18675863_18675866delTCTC	ENST00000308799.4	+	11	2451_2454	c.2232_2235delTCTC	c.(2230-2235)attctcfs	p.IL744fs	FBXW10_ENST00000301938.4_Frame_Shift_Del_p.IL662fs|FBXW10_ENST00000395667.1_Frame_Shift_Del_p.IL715fs|FBXW10_ENST00000573605.1_3'UTR|FBXW10_ENST00000395665.4_Frame_Shift_Del_p.IL715fs			Q5XX13	FBW10_HUMAN	F-box and WD repeat domain containing 10	715										NS(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42						TCATGGAAATTCTCTCTAAGTGTA	0.417													28	170	---	---	---	---						-	18675866	TCTC	-	18675863	7	5	287	1	0	1	0	1	0	0	0	0	5796	1771	62	0	2191	0	FBXW10	17	18675863	Frame_Shift_Del	DEL	TCTC	TCGA-HT-7882-01A-11D-2395-08	14738345	18675863	62519347	45	28571											
LPO	4025	broad.mit.edu	37	17	56343663	56343663	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr17:56343663C>T	ENST00000262290.4	+	11	1985	c.1669C>T	c.(1669-1671)Cgt>Tgt	p.R557C	LPO_ENST00000421678.2_Missense_Mutation_p.R474C|LPO_ENST00000582328.1_Missense_Mutation_p.R474C|LPO_ENST00000543544.1_Missense_Mutation_p.R498C	NM_006151.2	NP_006142.1	P22079	PERL_HUMAN	lactoperoxidase	557					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30						CAACACACAGCGTTGCCGGGA	0.502													7	53					0	0	1	0	0	T	56343663	C	T	56343663	3	4	287	1	0	0	0	0	1	0	0	0	8967	768	27	1	1707	1	LPO	17	56343663	Missense_Mutation	SNP	C	TCGA-HT-7882-01A-11D-2395-08	37667800	56343663	24851547	46	28572											
EVPL	2125	broad.mit.edu	37	17	74003773	74003775	+	In_Frame_Del	DEL	TTG	TTG	-			TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr17:74003773_74003775delTTG	ENST00000301607.3	-	22	5764_5766	c.5511_5513delCAA	c.(5509-5514)aacaag>aag	p.N1837del	EVPL_ENST00000586740.1_In_Frame_Del_p.N1859del	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	1837	Globular 2.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						GATGCTGCACTTGTTGTCTGTGG	0.611													29	215	---	---	---	---						-	74003775	TTG	-	74003773	7	5	287	1	0	1	0	1	0	0	0	0	5320	1609	56	0	592	0	EVPL	17	74003773	In_Frame_Del	DEL	TTG	TCGA-HT-7882-01A-11D-2395-08	17660110	74003773	7191437	47	28573											
DSC3	1825	broad.mit.edu	37	18	28581601	28581601	+	Missense_Mutation	SNP	G	G	A	rs114935867	byFrequency	TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr18:28581601G>A	ENST00000434452.1	-	14	2372	c.2218C>T	c.(2218-2220)Cct>Tct	p.P740S	DSC3_ENST00000360428.4_Missense_Mutation_p.P740S	NM_024423.2	NP_077741.2	Q14574	DSC3_HUMAN	desmocollin 3	740					homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			TCGTCTCCAGGTGCTTCTGTG	0.308													5	65					0	0	1	0	0	A	28581601	G	A	28581601	3	1	287	1	0	0	0	0	1	0	0	0	4793	1261	44	2	515	2	DSC3	18	28581601	Missense_Mutation	SNP	G	TCGA-HT-7882-01A-11D-2395-08		28581601	49495647	48	28574											
MAP1S	55201	broad.mit.edu	37	19	17845112	17845112	+	Missense_Mutation	SNP	G	G	C	rs71762031		TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr19:17845112G>C	ENST00000324096.4	+	7	3206	c.3055G>C	c.(3055-3057)Gcc>Ccc	p.A1019P	MAP1S_ENST00000544059.2_Missense_Mutation_p.A993P|CTD-3149D2.4_ENST00000595363.1_RNA	NM_018174.4	NP_060644.4	Q66K74	MAP1S_HUMAN	microtubule-associated protein 1S	1019	Necessary for association with actin (By similarity).|Necessary for interaction with RASSF1 isoform A and isoform C.				apoptosis|brain development|microtubule bundle formation|mitochondrion transport along microtubule|neuron projection morphogenesis	cytosol|dendrite|microtubule|neuronal cell body|nucleus|perinuclear region of cytoplasm|spindle|synapse	actin filament binding|beta-tubulin binding|DNA binding|microtubule binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	25						CGACTCGGTGGCCATGCATAC	0.657													6	56					0	0	1	0	0	C	17845112	G	C	17845112	3	2	287	1	0	0	0	0	1	0	0	0	9284	1203	42	5	3081	5	MAP1S	19	17845112	Missense_Mutation	SNP	G	TCGA-HT-7882-01A-11D-2395-08		17845112	41283871	49	28575											
ZNF536	9745	broad.mit.edu	37	19	31040081	31040081	+	Silent	SNP	C	C	T			TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr19:31040081C>T	ENST00000355537.3	+	4	3702	c.3555C>T	c.(3553-3555)acC>acT	p.T1185T		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	1185					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					ATGTTGAAACCGAACCGGAAA	0.572													8	70					0	0	1	0	0	T	31040081	C	T	31040081	2	4	287	1	0	0	0	0	0	0	0	1	18031	639	23	1		1	ZNF536	19	31040081	Silent	SNP	C	TCGA-HT-7882-01A-11D-2395-08	13194969	31040081	28088902	50	28576											
LILRB2	10288	broad.mit.edu	37	19	54783825	54783825	+	Missense_Mutation	SNP	C	C	T	rs141797988		TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr19:54783825C>T	ENST00000391748.1	-	4	303	c.176G>A	c.(175-177)cGt>cAt	p.R59H	LILRB2_ENST00000434421.1_Intron|LILRB2_ENST00000391749.4_Missense_Mutation_p.R59H|LILRB2_ENST00000314446.5_Missense_Mutation_p.R59H|LILRB2_ENST00000391746.1_Missense_Mutation_p.R59H|LILRB2_ENST00000471216.1_5'UTR	NM_001278403.1	NP_001265332.1	Q8N423	LIRB2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2	59	Ig-like C2-type 1.				cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CCTATATAGACGGTACTCCTG	0.547													24	178					0	0	1	0	0	T	54783825	C	T	54783825	3	4	287	1	0	0	0	0	1	0	0	0	8831	536	19	1	1664	1	LILRB2	19	54783825	Missense_Mutation	SNP	C	TCGA-HT-7882-01A-11D-2395-08	23743744	54783825	4345158	51	28577											
LILRA3	11026	broad.mit.edu	37	19	54803127	54803127	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr19:54803127C>T	ENST00000391745.1	-	8	917	c.601G>A	c.(601-603)Gtg>Atg	p.V201M	LILRA3_ENST00000391744.3_Intron|LILRA3_ENST00000251390.3_Missense_Mutation_p.V184M					leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3									p.V184M(1)		NS(3)|breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		ACGGGGCCCACGGAGAAGATG	0.567													23	177					0	0	1	0	0	T	54803127	C	T	54803127	3	4	287	1	0	0	0	0	1	0	0	0	8826	536	19	1	785	1	LILRA3	19	54803127	Missense_Mutation	SNP	C	TCGA-HT-7882-01A-11D-2395-08	19302	54803127	4325856	52	28578											
XKR7	343702	broad.mit.edu	37	20	30584347	30584347	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr20:30584347C>T	ENST00000562532.2	+	3	1001	c.827C>T	c.(826-828)aCg>aTg	p.T276M		NM_001011718.1	NP_001011718.1	Q5GH72	XKR7_HUMAN	XK, Kell blood group complex subunit-related family, member 7							integral to membrane				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			CTGGCCTGGACGCTGGCCTCC	0.701													6	35					0	0	1	0	0	T	30584347	C	T	30584347	3	4	287	1	0	0	0	0	1	0	0	0	17496	536	19	1	837	1	XKR7	20	30584347	Missense_Mutation	SNP	C	TCGA-HT-7882-01A-11D-2395-08		30584347	32441173	53	28579											
HCK	3055	broad.mit.edu	37	20	30667667	30667667	+	Silent	SNP	C	C	T			TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr20:30667667C>T	ENST00000534862.1	+	7	822	c.459C>T	c.(457-459)agC>agT	p.S153S	HCK_ENST00000538448.1_Silent_p.S152S|HCK_ENST00000520553.1_Silent_p.S152S|HCK_ENST00000375862.2_Silent_p.S172S|HCK_ENST00000518730.1_Silent_p.S151S|HCK_ENST00000375852.2_Silent_p.S173S	NM_001172132.1	NP_001165603.1	P08631	HCK_HUMAN	hemopoietic cell kinase	173	SH2.				interspecies interaction between organisms|mesoderm development|regulation of defense response to virus by virus|viral reproduction	caveola|cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(4)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			TCCGGGATAGCGAGACCACTA	0.612													4	25					0	0	1	0	0	T	30667667	C	T	30667667	2	4	287	1	0	0	0	0	0	0	0	1	7035	767	27	1		1	HCK	20	30667667	Silent	SNP	C	TCGA-HT-7882-01A-11D-2395-08	83320	30667667	32357853	54	28580											
AKAP4	8852	broad.mit.edu	37	X	49958224	49958224	+	Silent	SNP	G	G	A	rs140947270		TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chrX:49958224G>A	ENST00000376056.2	-	5	1263	c.1113C>T	c.(1111-1113)tcC>tcT	p.S371S	AKAP4_ENST00000376064.3_Silent_p.S371S|AKAP4_ENST00000481402.1_5'UTR|AKAP4_ENST00000376058.2_Intron|AKAP4_ENST00000358526.2_Silent_p.S380S			Q5JQC9	AKAP4_HUMAN	A kinase (PRKA) anchor protein 4	380					cell projection organization|single fertilization|sperm motility	cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum	protein kinase A binding	p.S380S(2)		NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41	Ovarian(276;0.236)					CAATCAAATCGGACACAATCT	0.463													7	20					0	0	1	0	0	A	49958224	G	A	49958224	2	1	287	1	0	0	0	0	0	0	0	1	450	1103	39	1		1	AKAP4	23	49958224	Silent	SNP	G	TCGA-HT-7882-01A-11D-2395-08		49958224	105312336	55	28581											
PCDH11X	27328	broad.mit.edu	37	X	91133911	91133911	+	Missense_Mutation	SNP	C	C	A			TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chrX:91133911C>A	ENST00000373094.1	+	2	3517	c.2672C>A	c.(2671-2673)aCt>aAt	p.T891N	PCDH11X_ENST00000361655.2_Missense_Mutation_p.T891N|PCDH11X_ENST00000298274.8_Missense_Mutation_p.T891N|PCDH11X_ENST00000406881.1_Missense_Mutation_p.T891N|PCDH11X_ENST00000504220.2_Missense_Mutation_p.T891N|PCDH11X_ENST00000361724.1_Missense_Mutation_p.T891N|PCDH11X_ENST00000373088.1_Missense_Mutation_p.T891N|PCDH11X_ENST00000373097.1_Missense_Mutation_p.T891N|PCDH11X_ENST00000395337.2_Missense_Mutation_p.T891N	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	891					homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						ATTGAAGAAACTAAGGCAGAT	0.373													15	44					4.29497e-23	4.65288e-23	1	1	0	A	91133911	C	A	91133911	3	1	287	1	0	0	0	0	1	0	0	0	11555	565	20	4	2678	4	PCDH11X	23	91133911	Missense_Mutation	SNP	C	TCGA-HT-7882-01A-11D-2395-08	41175687	91133911	64136649	56	28582											
PANK4	55229	broad.mit.edu	37	1	2444388	2444388	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7884-01B-11D-2395-08	TCGA-HT-7884-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c13d36-7c29-4e40-8f16-98ea5d746d85	3dc318b4-b8f0-4bc3-87b8-6b29b91f13bf	g.chr1:2444388C>T	ENST00000378466.3	-	13	1678	c.1666G>A	c.(1666-1668)Gcg>Acg	p.A556T	PANK4_ENST00000435556.3_Missense_Mutation_p.A517T	NM_018216.1	NP_060686.1	Q9NVE7	PANK4_HUMAN	pantothenate kinase 4	556					coenzyme A biosynthetic process	cytoplasm	ATP binding|pantothenate kinase activity			breast(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	23	all_cancers(77;0.000158)|all_epithelial(69;8.01e-05)|all_lung(157;0.0212)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.18e-20)|all_lung(118;1.67e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;1.54e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.95e-23)|GBM - Glioblastoma multiforme(42;2.81e-08)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.00445)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)		TTCACCAGCGCCAGCTGCCGT	0.682													6	137					0	0	1	0	0	T	2444388	C	T	2444388	3	4	288	1	0	0	0	0	1	0	0	0	11466	739	26	2	683	2	PANK4	1	2444388	Missense_Mutation	SNP	C	TCGA-HT-7884-01B-11D-2395-08		2444388	246806233	1	28583											
AHDC1	27245	broad.mit.edu	37	1	27875777	27875777	+	Silent	SNP	C	C	T	rs151218177		TCGA-HT-7884-01B-11D-2395-08	TCGA-HT-7884-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c13d36-7c29-4e40-8f16-98ea5d746d85	3dc318b4-b8f0-4bc3-87b8-6b29b91f13bf	g.chr1:27875777C>T	ENST00000374011.2	-	6	3818	c.2850G>A	c.(2848-2850)ccG>ccA	p.P950P	AHDC1_ENST00000247087.5_Silent_p.P950P	NM_001029882.2	NP_001025053.1	Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	950							DNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		TGGCTGAGGGCGGGGGCACCA	0.672													55	61					0	0	1	0	0	T	27875777	C	T	27875777	2	4	288	1	0	0	0	0	0	0	0	1	409	755	27	1		1	AHDC1	1	27875777	Silent	SNP	C	TCGA-HT-7884-01B-11D-2395-08	25431389	27875777	221374844	2	28584											
YIPF1	54432	broad.mit.edu	37	1	54331952	54331952	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-7884-01B-11D-2395-08	TCGA-HT-7884-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c13d36-7c29-4e40-8f16-98ea5d746d85	3dc318b4-b8f0-4bc3-87b8-6b29b91f13bf	g.chr1:54331952C>G	ENST00000072644.1	-	9	1088	c.752G>C	c.(751-753)cGt>cCt	p.R251P	YIPF1_ENST00000371399.1_Missense_Mutation_p.R68P|YIPF1_ENST00000539954.1_Missense_Mutation_p.R276P|YIPF1_ENST00000469457.1_5'UTR	NM_018982.4	NP_061855.1	Q9Y548	YIPF1_HUMAN	Yip1 domain family, member 1	251						integral to membrane|transport vesicle		p.R251H(1)		endometrium(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|skin(1)|urinary_tract(2)	19						GTTATCCTCACGAACAGCTGG	0.483													44	64					0	0	1	0	0	G	54331952	C	G	54331952	3	3	288	1	0	0	0	0	1	0	0	0	17537	536	19	5	176	5	YIPF1	1	54331952	Missense_Mutation	SNP	C	TCGA-HT-7884-01B-11D-2395-08	26456175	54331952	194918669	3	28585											
REG1A	5967	broad.mit.edu	37	2	79348733	79348733	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7884-01B-11D-2395-08	TCGA-HT-7884-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c13d36-7c29-4e40-8f16-98ea5d746d85	3dc318b4-b8f0-4bc3-87b8-6b29b91f13bf	g.chr2:79348733C>T	ENST00000233735.1	+	3	213	c.110C>T	c.(109-111)cCa>cTa	p.P37L		NM_002909.4	NP_002900.2	P05451	REG1A_HUMAN	regenerating islet-derived 1 alpha	37	C-type lectin.				positive regulation of cell proliferation	extracellular region	growth factor activity|sugar binding			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(26)|prostate(1)|upper_aerodigestive_tract(1)	39						ATCAGCTGCCCAGAAGGCACC	0.527													62	272					0	0	1	0	0	T	79348733	C	T	79348733	3	4	288	1	0	0	0	0	1	0	0	0	13262	594	21	2	116	2	REG1A	2	79348733	Missense_Mutation	SNP	C	TCGA-HT-7884-01B-11D-2395-08		79348733	163850640	4	28586											
RND3	390	broad.mit.edu	37	2	151328168	151328168	+	Silent	SNP	G	G	A			TCGA-HT-7884-01B-11D-2395-08	TCGA-HT-7884-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c13d36-7c29-4e40-8f16-98ea5d746d85	3dc318b4-b8f0-4bc3-87b8-6b29b91f13bf	g.chr2:151328168G>A	ENST00000375734.2	-	4	705	c.456C>T	c.(454-456)caC>caT	p.H152H	RND3_ENST00000263895.4_Silent_p.H152H|RND3_ENST00000472416.1_5'UTR|RND3_ENST00000409557.1_Silent_p.H23H	NM_001254738.1	NP_001241667.1	P61587	RND3_HUMAN	Rho family GTPase 3	152					actin cytoskeleton organization|cell adhesion|small GTPase mediated signal transduction	Golgi membrane	GTP binding|GTPase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.106)		GCGTCTGCCTGTGATTGGAGA	0.418													5	114					0	0	1	0	0	A	151328168	G	A	151328168	2	1	288	1	0	0	0	0	0	0	0	1	13473	1368	48	2		2	RND3	2	151328168	Silent	SNP	G	TCGA-HT-7884-01B-11D-2395-08	71979435	151328168	91871205	5	28587											
SCN2A	6326	broad.mit.edu	37	2	166179921	166179921	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7884-01B-11D-2395-08	TCGA-HT-7884-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c13d36-7c29-4e40-8f16-98ea5d746d85	3dc318b4-b8f0-4bc3-87b8-6b29b91f13bf	g.chr2:166179921A>G	ENST00000375437.2	+	12	2217	c.1927A>G	c.(1927-1929)Aag>Gag	p.K643E	SCN2A_ENST00000375427.2_Missense_Mutation_p.K643E|SCN2A_ENST00000283256.6_Missense_Mutation_p.K643E|SCN2A_ENST00000357398.3_Missense_Mutation_p.K643E	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	643					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	CATGAATGGGAAGATGCATAG	0.617													6	46					0	0	1	0	0	G	166179921	A	G	166179921	3	3	288	1	0	0	0	0	1	0	0	0	13970	247	9	3	2065	3	SCN2A	2	166179921	Missense_Mutation	SNP	A	TCGA-HT-7884-01B-11D-2395-08	14851753	166179921	77019452	6	28588											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-HT-7884-01B-11D-2395-08	TCGA-HT-7884-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c13d36-7c29-4e40-8f16-98ea5d746d85	3dc318b4-b8f0-4bc3-87b8-6b29b91f13bf	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	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								45	58					0	0	1	0	0	T	209113112	C	T	209113112	3	4	288	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HT-7884-01B-11D-2395-08	42933191	209113112	34086261	7	28589											
STXBP5L	9515	broad.mit.edu	37	3	120628568	120628569	+	In_Frame_Ins	INS	-	-	CGC			TCGA-HT-7884-01B-11D-2395-08	TCGA-HT-7884-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c13d36-7c29-4e40-8f16-98ea5d746d85	3dc318b4-b8f0-4bc3-87b8-6b29b91f13bf	g.chr3:120628568_120628569insCGC	ENST00000273666.6	+	2	414_415	c.143_144insCGC	c.(142-147)gaggaa>gaCGCggaa	p.48_48E>DA	STXBP5L_ENST00000471454.1_In_Frame_Ins_p.48_48E>DA|STXBP5L_ENST00000497029.1_In_Frame_Ins_p.48_48E>DA|STXBP5L_ENST00000492541.1_In_Frame_Ins_p.48_48E>DA|STXBP5L_ENST00000472879.1_In_Frame_Ins_p.48_48E>DA	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	48					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		GTTCTCAGAGAGGAAATTCAGG	0.48													17	30	---	---	---	---						CGC	120628569	-	CGC	120628568	7	5	288	1	0	1	1	0	0	0	0	0	15413	304	11	0	145	0	STXBP5L	3	120628568	In_Frame_Ins	INS	-	TCGA-HT-7884-01B-11D-2395-08		120628568	77393862	8	28590											
PLCH1	23007	broad.mit.edu	37	3	155215187	155215187	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HT-7884-01B-11D-2395-08	TCGA-HT-7884-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c13d36-7c29-4e40-8f16-98ea5d746d85	3dc318b4-b8f0-4bc3-87b8-6b29b91f13bf	g.chr3:155215187delT	ENST00000460012.1	-	15	2083	c.1726delA	c.(1726-1728)accfs	p.T576fs	PLCH1_ENST00000447496.2_Frame_Shift_Del_p.T594fs|PLCH1_ENST00000494598.1_Frame_Shift_Del_p.T594fs|PLCH1_ENST00000334686.6_Frame_Shift_Del_p.T576fs|PLCH1_ENST00000414191.1_Frame_Shift_Del_p.T576fs|PLCH1_ENST00000340059.7_Frame_Shift_Del_p.T594fs			Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	594					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			AGCTTCATGGTTTTCCTTCGG	0.468													56	82	---	---	---	---						-	155215187	T	-	155215187	7	5	288	1	0	1	0	1	0	0	0	0	12085	1725	60	0	3356	0	PLCH1	3	155215187	Frame_Shift_Del	DEL	T	TCGA-HT-7884-01B-11D-2395-08	34586619	155215187	42807243	9	28591											
PDHA2	5161	broad.mit.edu	37	4	96761529	96761529	+	Silent	SNP	A	A	G			TCGA-HT-7884-01B-11D-2395-08	TCGA-HT-7884-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c13d36-7c29-4e40-8f16-98ea5d746d85	3dc318b4-b8f0-4bc3-87b8-6b29b91f13bf	g.chr4:96761529A>G	ENST00000295266.4	+	1	291	c.228A>G	c.(226-228)gcA>gcG	p.A76A		NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 2	76					glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	NADH(DB00157)	AATTGAAGGCAGATCAGCTGT	0.537													6	133					0	0	1	0	0	G	96761529	A	G	96761529	2	3	288	1	0	0	0	0	0	0	0	1	11712	175	7	3		3	PDHA2	4	96761529	Silent	SNP	A	TCGA-HT-7884-01B-11D-2395-08		96761529	94392747	10	28592											
NEUROG2	63973	broad.mit.edu	37	4	113436146	113436146	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HT-7884-01B-11D-2395-08	TCGA-HT-7884-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c13d36-7c29-4e40-8f16-98ea5d746d85	3dc318b4-b8f0-4bc3-87b8-6b29b91f13bf	g.chr4:113436146C>T	ENST00000313341.3	-	2	812	c.486G>A	c.(484-486)tgG>tgA	p.W162*		NM_024019.3	NP_076924.1	Q9H2A3	NGN2_HUMAN	neurogenin 2	162	Helix-loop-helix motif.				positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent	nucleus	E-box binding			central_nervous_system(1)|large_intestine(3)|lung(6)|skin(2)	12		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.00168)		CGGTGAGTGCCCAGATGTAGT	0.711													9	37					0	0	1	0	0	T	113436146	C	T	113436146	4	4	288	1	0	0	0	0	0	1	0	0	10400	624	22	2	336	2	NEUROG2	4	113436146	Nonsense_Mutation	SNP	C	TCGA-HT-7884-01B-11D-2395-08	16674617	113436146	77718130	11	28593											
PCDHB16	57717	broad.mit.edu	37	5	140563635	140563635	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7884-01B-11D-2395-08	TCGA-HT-7884-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c13d36-7c29-4e40-8f16-98ea5d746d85	3dc318b4-b8f0-4bc3-87b8-6b29b91f13bf	g.chr5:140563635G>A	ENST00000361016.2	+	1	2656	c.1501G>A	c.(1501-1503)Gcc>Acc	p.A501T		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN		501	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCTGCCCCTCGCCTCCCTGGT	0.677													9	139					0	0	1	0	0	A	140563635	G	A	140563635	3	1	288	1	0	0	0	0	1	0	0	0	11588	1087	38	1	1503	1	PCDHB16	5	140563635	Missense_Mutation	SNP	G	TCGA-HT-7884-01B-11D-2395-08		140563635	40351625	12	28594											
SPINK5	11005	broad.mit.edu	37	5	147484546	147484546	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7884-01B-11D-2395-08	TCGA-HT-7884-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c13d36-7c29-4e40-8f16-98ea5d746d85	3dc318b4-b8f0-4bc3-87b8-6b29b91f13bf	g.chr5:147484546A>G	ENST00000359874.3	+	16	1535	c.1462A>G	c.(1462-1464)Aaa>Gaa	p.K488E	SPINK5_ENST00000398454.1_Missense_Mutation_p.K488E|SPINK5_ENST00000256084.7_Missense_Mutation_p.K488E	NM_001127698.1	NP_001121170.1	Q9NQ38	ISK5_HUMAN	serine peptidase inhibitor, Kazal type 5	488	Kazal-like 7.				anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation	cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm	serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCAAAGGCTAAAAGAGAAGC	0.328													4	28					0	0	1	0	0	G	147484546	A	G	147484546	3	3	288	1	0	0	0	0	1	0	0	0	15118	363	13	3	1524	3	SPINK5	5	147484546	Missense_Mutation	SNP	A	TCGA-HT-7884-01B-11D-2395-08	6920911	147484546	33430714	13	28595											
CLINT1	9685	broad.mit.edu	37	5	157240156	157240156	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-7884-01B-11D-2395-08	TCGA-HT-7884-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c13d36-7c29-4e40-8f16-98ea5d746d85	3dc318b4-b8f0-4bc3-87b8-6b29b91f13bf	g.chr5:157240156C>G	ENST00000523094.1	-	5	583	c.378G>C	c.(376-378)agG>agC	p.R126S	CLINT1_ENST00000523908.1_Missense_Mutation_p.R144S|CLINT1_ENST00000411809.2_Missense_Mutation_p.R144S|CLINT1_ENST00000530742.1_Missense_Mutation_p.R126S|CLINT1_ENST00000296951.5_Missense_Mutation_p.R126S	NM_001195555.1|NM_001195556.1	NP_001182484.1|NP_001182485.1	Q14677	EPN4_HUMAN	clathrin interactor 1	144	ENTH.				endocytosis|post-Golgi vesicle-mediated transport	clathrin-coated vesicle|cytosol|Golgi apparatus|membrane|perinuclear region of cytoplasm	clathrin binding|lipid binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|urinary_tract(1)	21	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CTTCACGAAGCCTGTCGTCAT	0.418													4	88					0	0	1	0	0	G	157240156	C	G	157240156	3	3	288	1	0	0	0	0	1	0	0	0	3554	738	26	5	1477	5	CLINT1	5	157240156	Missense_Mutation	SNP	C	TCGA-HT-7884-01B-11D-2395-08	9755610	157240156	23675104	14	28596											
HLA-DOA	3111	broad.mit.edu	37	6	32975791	32975791	+	Splice_Site	SNP	G	G	A	rs138032675		TCGA-HT-7884-01B-11D-2395-08	TCGA-HT-7884-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c13d36-7c29-4e40-8f16-98ea5d746d85	3dc318b4-b8f0-4bc3-87b8-6b29b91f13bf	g.chr6:32975791G>A	ENST00000229829.5	-	2	405	c.330C>T	c.(328-330)aaC>aaT	p.N110N	HLA-DOA_ENST00000495532.1_5'UTR|HLA-DOA_ENST00000450833.2_Splice_Site_p.N80N	NM_002119.3	NP_002110.1	P06340	DOA_HUMAN	major histocompatibility complex, class II, DO alpha	110	Alpha-1.				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endosome membrane|integral to membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity			NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1)	9						GGCCGGTACCGTTGATGGCTC	0.657													5	62					0	0	1	0	0	A	32975791	G	A	32975791	5	1	288	1	0	0	0	0	0	0	1	0	7241	1159	40	1	438	1	HLA-DOA	6	32975791	Splice_Site	SNP	G	TCGA-HT-7884-01B-11D-2395-08		32975791	138139276	15	28597											
RUNX2	860	broad.mit.edu	37	6	45390466	45390466	+	Silent	SNP	A	A	G			TCGA-HT-7884-01B-11D-2395-08	TCGA-HT-7884-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c13d36-7c29-4e40-8f16-98ea5d746d85	3dc318b4-b8f0-4bc3-87b8-6b29b91f13bf	g.chr6:45390466A>G	ENST00000371438.1	+	2	553	c.195A>G	c.(193-195)caA>caG	p.Q65Q	RUNX2_ENST00000465038.2_Silent_p.Q65Q|RUNX2_ENST00000541979.1_Silent_p.Q133Q|RUNX2_ENST00000576263.1_Silent_p.Q65Q|RUNX2_ENST00000352853.5_Silent_p.Q133Q|RUNX2_ENST00000359524.5_Silent_p.Q51Q|RUNX2_ENST00000371436.6_Silent_p.Q65Q|RUNX2_ENST00000371432.3_Silent_p.Q51Q	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	65	Poly-Gln.				negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						agcagcagcaacagcagcagc	0.731													4	31					0	0	1	0	0	G	45390466	A	G	45390466	2	3	288	1	0	0	0	0	0	0	0	1	13800	40	2	3		3	RUNX2	6	45390466	Silent	SNP	A	TCGA-HT-7884-01B-11D-2395-08	12414675	45390466	125724601	16	28598											
SYNE1	23345	broad.mit.edu	37	6	152697565	152697565	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7884-01B-11D-2395-08	TCGA-HT-7884-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c13d36-7c29-4e40-8f16-98ea5d746d85	3dc318b4-b8f0-4bc3-87b8-6b29b91f13bf	g.chr6:152697565T>C	ENST00000367255.5	-	58	9876	c.9275A>G	c.(9274-9276)gAt>gGt	p.D3092G	SYNE1_ENST00000423061.1_Missense_Mutation_p.D3099G|SYNE1_ENST00000448038.1_Missense_Mutation_p.D3099G|SYNE1_ENST00000341594.5_Missense_Mutation_p.D3131G|SYNE1_ENST00000265368.4_Missense_Mutation_p.D3092G	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	3092					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TTGAGGTATATCAAAACACTT	0.358										HNSCC(10;0.0054)			43	44					0	0	1	0	0	C	152697565	T	C	152697565	3	2	288	1	0	0	0	0	1	0	0	0	15502	1435	50	3	17547	3	SYNE1	6	152697565	Missense_Mutation	SNP	T	TCGA-HT-7884-01B-11D-2395-08	107307099	152697565	18417502	17	28599											
ITGB8	3696	broad.mit.edu	37	7	20441726	20441726	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7884-01B-11D-2395-08	TCGA-HT-7884-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c13d36-7c29-4e40-8f16-98ea5d746d85	3dc318b4-b8f0-4bc3-87b8-6b29b91f13bf	g.chr7:20441726A>G	ENST00000222573.4	+	10	2348	c.1664A>G	c.(1663-1665)tAt>tGt	p.Y555C	ITGB8_ENST00000537992.1_Missense_Mutation_p.Y420C	NM_002214.2	NP_002205.1	P26012	ITB8_HUMAN	integrin, beta 8		Cysteine-rich tandem repeats.				cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development	integrin complex	protein binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(4)|stomach(2)|urinary_tract(1)	37						TCTTGTCCATATCACCATGGA	0.363													9	131					0	0	1	0	0	G	20441726	A	G	20441726	3	3	288	1	0	0	0	0	1	0	0	0	7945	449	16	3	1702	3	ITGB8	7	20441726	Missense_Mutation	SNP	A	TCGA-HT-7884-01B-11D-2395-08		20441726	138696937	18	28600											
AVL9	23080	broad.mit.edu	37	7	32599062	32599062	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7884-01B-11D-2395-08	TCGA-HT-7884-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c13d36-7c29-4e40-8f16-98ea5d746d85	3dc318b4-b8f0-4bc3-87b8-6b29b91f13bf	g.chr7:32599062G>A	ENST00000318709.4	+	10	1422	c.1201G>A	c.(1201-1203)Gcc>Acc	p.A401T	AVL9_ENST00000409301.1_Missense_Mutation_p.A401T|AVL9_ENST00000404479.1_Missense_Mutation_p.A401T	NM_015060.1	NP_055875.1	Q8NBF6	AVL9_HUMAN	AVL9 homolog (S. cerevisiase)	401						integral to membrane				endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						CATGCCCCTGGCCATCTTCAC	0.388													28	40					0	0	1	0	0	A	32599062	G	A	32599062	3	1	288	1	0	0	0	0	1	0	0	0	1226	1203	42	2	1239	2	AVL9	7	32599062	Missense_Mutation	SNP	G	TCGA-HT-7884-01B-11D-2395-08	12157336	32599062	126539601	19	28601											
IMMP2L	83943	broad.mit.edu	37	7	110303732	110303732	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7884-01B-11D-2395-08	TCGA-HT-7884-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c13d36-7c29-4e40-8f16-98ea5d746d85	3dc318b4-b8f0-4bc3-87b8-6b29b91f13bf	g.chr7:110303732G>A	ENST00000405709.2	-	6	896	c.454C>T	c.(454-456)Ccc>Tcc	p.P152S	IMMP2L_ENST00000450877.1_Missense_Mutation_p.P134S|IMMP2L_ENST00000489381.1_5'UTR|IMMP2L_ENST00000452895.1_Missense_Mutation_p.P152S|IMMP2L_ENST00000415362.1_Missense_Mutation_p.P152S|IMMP2L_ENST00000331762.3_Missense_Mutation_p.P152S	NM_032549.3	NP_115938.1	Q96T52	IMP2L_HUMAN	IMP2 inner mitochondrial membrane peptidase-like (S. cerevisiae)	152					protein processing involved in protein targeting to mitochondrion|proteolysis	integral to membrane|mitochondrial inner membrane peptidase complex|nucleus	serine-type peptidase activity			endometrium(3)|large_intestine(6)|lung(5)	14				UCEC - Uterine corpus endometrioid carcinoma (4;0.053)|Epithelial(3;2.27e-07)|all cancers(3;1.36e-05)|STAD - Stomach adenocarcinoma(3;0.00148)|KIRC - Kidney renal clear cell carcinoma(11;0.0339)|Lung(3;0.0375)|Kidney(11;0.0415)|LUSC - Lung squamous cell carcinoma(290;0.173)		CGCTCTGGGGGCCACAGGATA	0.448													5	93					0	0	1	0	0	A	110303732	G	A	110303732	3	1	288	1	0	0	0	0	1	0	0	0	7761	1203	42	2	77	2	IMMP2L	7	110303732	Missense_Mutation	SNP	G	TCGA-HT-7884-01B-11D-2395-08	77704670	110303732	48834931	20	28602											
PCM1	5108	broad.mit.edu	37	8	17794714	17794714	+	Silent	SNP	T	T	C			TCGA-HT-7884-01B-11D-2395-08	TCGA-HT-7884-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c13d36-7c29-4e40-8f16-98ea5d746d85	3dc318b4-b8f0-4bc3-87b8-6b29b91f13bf	g.chr8:17794714T>C	ENST00000325083.8	+	4	607	c.168T>C	c.(166-168)agT>agC	p.S56S	PCM1_ENST00000524226.1_Silent_p.S56S|PCM1_ENST00000518936.1_3'UTR|PCM1_ENST00000518537.1_Silent_p.S56S|PCM1_ENST00000519253.1_Silent_p.S56S	NM_006197.3	NP_006188	Q15154	PCM1_HUMAN	pericentriolar material 1	56					centrosome organization|cilium assembly|G2/M transition of mitotic cell cycle|interkinetic nuclear migration|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome	centriolar satellite|cytosol|nuclear membrane|pericentriolar material	identical protein binding		PCM1/JAK2(30)	breast(4)|endometrium(8)|kidney(5)|large_intestine(16)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	48				Colorectal(111;0.0789)		GTGTAGAAAGTGATAAAAGAG	0.373			T	"RET, JAK2"	"papillary thyroid, CML, MPD"								4	15					0	0	1	0	0	C	17794714	T	C	17794714	2	2	288	1	0	0	0	0	0	0	0	1	11631	1693	59	3		3	PCM1	8	17794714	Silent	SNP	T	TCGA-HT-7884-01B-11D-2395-08		17794714	128569308	21	28603											
OR4C16	219428	broad.mit.edu	37	11	55339961	55339961	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7884-01B-11D-2395-08	TCGA-HT-7884-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c13d36-7c29-4e40-8f16-98ea5d746d85	3dc318b4-b8f0-4bc3-87b8-6b29b91f13bf	g.chr11:55339961C>T	ENST00000314634.3	+	1	358	c.358C>T	c.(358-360)Cgc>Tgc	p.R120C		NM_001004701.2	NP_001004701.2	Q8NGL9	OR4CG_HUMAN	olfactory receptor, family 4, subfamily C, member 16 (gene/pseudogene)	120					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41		all_epithelial(135;0.0748)				GGCTGTTGACCGCTATGTGGA	0.517													105	135					0	0	1	0	0	T	55339961	C	T	55339961	3	4	288	1	0	0	0	0	1	0	0	0	11097	652	23	1	360	1	OR4C16	11	55339961	Missense_Mutation	SNP	C	TCGA-HT-7884-01B-11D-2395-08		55339961	79666555	22	28604											
OR4D6	219983	broad.mit.edu	37	11	59224594	59224594	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7884-01B-11D-2395-08	TCGA-HT-7884-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c13d36-7c29-4e40-8f16-98ea5d746d85	3dc318b4-b8f0-4bc3-87b8-6b29b91f13bf	g.chr11:59224594G>A	ENST00000300127.2	+	1	184	c.161G>A	c.(160-162)cGc>cAc	p.R54H		NM_001004708.1	NP_001004708.1	Q8NGJ1	OR4D6_HUMAN	olfactory receptor, family 4, subfamily D, member 6	54					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R54H(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	34						TGTGAGTCCCGCCTACACACT	0.458													7	112					0	0	1	0	0	A	59224594	G	A	59224594	3	1	288	1	0	0	0	0	1	0	0	0	11106	1087	38	1	163	1	OR4D6	11	59224594	Missense_Mutation	SNP	G	TCGA-HT-7884-01B-11D-2395-08	3884633	59224594	75781922	23	28605											
ZNF259	8882	broad.mit.edu	37	11	116657243	116657243	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7884-01B-11D-2395-08	TCGA-HT-7884-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c13d36-7c29-4e40-8f16-98ea5d746d85	3dc318b4-b8f0-4bc3-87b8-6b29b91f13bf	g.chr11:116657243T>C	ENST00000227322.3	-	4	538	c.479A>G	c.(478-480)gAc>gGc	p.D160G		NM_003904.3	NP_003895.1	O75312	ZPR1_HUMAN	zinc finger protein 259	160					cell proliferation|signal transduction	cytoplasm|nucleolus				breast(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	9	all_hematologic(175;0.0487)	all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.61e-06)|all cancers(92;0.000139)|OV - Ovarian serous cystadenocarcinoma(223;0.153)		TGCAGGCTGGTCCTGCTCCAG	0.478													20	50					0	0	1	0	0	C	116657243	T	C	116657243	3	2	288	1	0	0	0	0	1	0	0	0	17859	1667	58	3	944	3	ZNF259	11	116657243	Missense_Mutation	SNP	T	TCGA-HT-7884-01B-11D-2395-08	57432649	116657243	18349273	24	28606											
FKBP4	2288	broad.mit.edu	37	12	2910516	2910516	+	Silent	SNP	G	G	A			TCGA-HT-7884-01B-11D-2395-08	TCGA-HT-7884-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c13d36-7c29-4e40-8f16-98ea5d746d85	3dc318b4-b8f0-4bc3-87b8-6b29b91f13bf	g.chr12:2910516G>A	ENST00000001008.4	+	9	1453	c.1266G>A	c.(1264-1266)gaG>gaA	p.E422E	RP4-816N1.7_ENST00000547042.1_RNA|RP4-816N1.6_ENST00000547834.1_RNA	NM_002014.3	NP_002005.1	Q02790	FKBP4_HUMAN	FK506 binding protein 4, 59kDa	422					negative regulation of microtubule polymerization or depolymerization|negative regulation of neuron projection development|protein folding	axonal growth cone|cytosol|membrane|microtubule|nucleus	FK506 binding|heat shock protein binding|peptidyl-prolyl cis-trans isomerase activity|protein binding, bridging			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(1)	14			OV - Ovarian serous cystadenocarcinoma(31;0.00105)		Dimethyl sulfoxide(DB01093)	CTGAGGAGGAGAACAAGGTGA	0.557													33	190					0	0	1	0	0	A	2910516	G	A	2910516	2	1	288	1	0	0	0	0	0	0	0	1	5943	933	33	2		2	FKBP4	12	2910516	Silent	SNP	G	TCGA-HT-7884-01B-11D-2395-08		2910516	130941379	25	28607											
MAPKAPK5	8550	broad.mit.edu	37	12	112327906	112327906	+	Missense_Mutation	SNP	T	T	G			TCGA-HT-7884-01B-11D-2395-08	TCGA-HT-7884-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c13d36-7c29-4e40-8f16-98ea5d746d85	3dc318b4-b8f0-4bc3-87b8-6b29b91f13bf	g.chr12:112327906T>G	ENST00000550735.2	+	13	2035	c.1279T>G	c.(1279-1281)Tgc>Ggc	p.C427G	MAPKAPK5_ENST00000551404.2_Missense_Mutation_p.C429G	NM_003668.2|NM_139078.1	NP_003659.2|NP_620777.1	Q8IW41	MAPK5_HUMAN	mitogen-activated protein kinase-activated protein kinase 5	429					signal transduction	cytoplasm|nucleus	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity			endometrium(1)|lung(11)|ovary(1)	13						TAACCGGGAATGCAAACTCCT	0.428													4	6					0	0	1	0	0	G	112327906	T	G	112327906	3	3	288	1	0	0	0	0	1	0	0	0	9341	1464	51	4	1335	4	MAPKAPK5	12	112327906	Missense_Mutation	SNP	T	TCGA-HT-7884-01B-11D-2395-08	109417390	112327906	21523989	26	28608											
PXMP2	5827	broad.mit.edu	37	12	133277886	133277886	+	Missense_Mutation	SNP	G	G	A	rs139134478	byFrequency	TCGA-HT-7884-01B-11D-2395-08	TCGA-HT-7884-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c13d36-7c29-4e40-8f16-98ea5d746d85	3dc318b4-b8f0-4bc3-87b8-6b29b91f13bf	g.chr12:133277886G>A	ENST00000545677.1	+	3	267	c.64G>A	c.(64-66)Ggc>Agc	p.G22S	PXMP2_ENST00000539093.1_Missense_Mutation_p.G22S|PXMP2_ENST00000543589.1_Intron|PXMP2_ENST00000428960.2_Silent_p.P57P|RP13-672B3.2_ENST00000537262.1_Missense_Mutation_p.G22S|PXMP2_ENST00000317479.3_Silent_p.P150P			Q9NR77	PXMP2_HUMAN	peroxisomal membrane protein 2, 22kDa	0						integral to membrane|peroxisomal membrane	protein binding			large_intestine(1)|liver(2)|lung(1)	4	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.86e-08)|Epithelial(86;2.47e-07)|all cancers(50;6.85e-06)		GCTTCTGGCCGGCGCTGAGGA	0.612													6	115					0	0	1	0	0	A	133277886	G	A	133277886	3	1	288	1	0	0	0	0	1	0	0	0	12902	1103	39	1	464	1	PXMP2	12	133277886	Missense_Mutation	SNP	G	TCGA-HT-7884-01B-11D-2395-08	20949980	133277886	574009	27	28609											
SLC39A9	55334	broad.mit.edu	37	14	69908908	69908908	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7884-01B-11D-2395-08	TCGA-HT-7884-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c13d36-7c29-4e40-8f16-98ea5d746d85	3dc318b4-b8f0-4bc3-87b8-6b29b91f13bf	g.chr14:69908908G>A	ENST00000336643.5	+	3	1006	c.328G>A	c.(328-330)Gtt>Att	p.V110I	SLC39A9_ENST00000557046.1_Missense_Mutation_p.V110I|SLC39A9_ENST00000556605.1_Missense_Mutation_p.V110I|SLC39A9_ENST00000555245.1_3'UTR|SLC39A9_ENST00000031146.4_Intron	NM_018375.4	NP_060845.2	Q9NUM3	S39A9_HUMAN	solute carrier family 39, member 9	110					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			breast(1)|endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|skin(1)|stomach(1)	14				all cancers(60;0.00299)|BRCA - Breast invasive adenocarcinoma(234;0.0145)|OV - Ovarian serous cystadenocarcinoma(108;0.0373)		CTATATTGGTGTTTCCCTCGT	0.483													31	193					0	0	1	0	0	A	69908908	G	A	69908908	3	1	288	1	0	0	0	0	1	0	0	0	14680	1377	48	2	338	2	SLC39A9	14	69908908	Missense_Mutation	SNP	G	TCGA-HT-7884-01B-11D-2395-08		69908908	37440632	28	28610											
LTK	4058	broad.mit.edu	37	15	41796600	41796600	+	Silent	SNP	G	G	A			TCGA-HT-7884-01B-11D-2395-08	TCGA-HT-7884-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c13d36-7c29-4e40-8f16-98ea5d746d85	3dc318b4-b8f0-4bc3-87b8-6b29b91f13bf	g.chr15:41796600G>A	ENST00000263800.6	-	19	2382	c.2286C>T	c.(2284-2286)caC>caT	p.H762H	LTK_ENST00000561619.1_Silent_p.H460H|LTK_ENST00000453182.2_Silent_p.H632H|LTK_ENST00000355166.5_Silent_p.H701H	NM_002344.5	NP_002335.2	P29376	LTK_HUMAN	leukocyte receptor tyrosine kinase	762	Protein kinase.				apoptosis|cell proliferation|phosphatidylinositol 3-kinase cascade|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(16)|skin(3)|urinary_tract(1)	26		all_cancers(109;1.89e-19)|all_epithelial(112;2.28e-16)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.172)		OV - Ovarian serous cystadenocarcinoma(18;2.1e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113)		GCTCAGGCTCGTGCTGCCAAC	0.592										TSP Lung(18;0.14)			6	67					0	0	1	0	0	A	41796600	G	A	41796600	2	1	288	1	0	0	0	0	0	0	0	1	9125	1136	40	1		1	LTK	15	41796600	Silent	SNP	G	TCGA-HT-7884-01B-11D-2395-08		41796600	60734792	29	28611											
SRRM2	23524	broad.mit.edu	37	16	2816330	2816330	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7884-01B-11D-2395-08	TCGA-HT-7884-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c13d36-7c29-4e40-8f16-98ea5d746d85	3dc318b4-b8f0-4bc3-87b8-6b29b91f13bf	g.chr16:2816330G>A	ENST00000301740.8	+	11	6350	c.5801G>A	c.(5800-5802)cGt>cAt	p.R1934H		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	1934	Arg-rich.|Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						ACCCGCCGTCGTTCAAGGTCT	0.582													57	71					0	0	1	0	0	A	2816330	G	A	2816330	3	1	288	1	0	0	0	0	1	0	0	0	15225	1145	40	1	5839	1	SRRM2	16	2816330	Missense_Mutation	SNP	G	TCGA-HT-7884-01B-11D-2395-08		2816330	87538423	30	28612											
ZNF319	57567	broad.mit.edu	37	16	58030901	58030901	+	Silent	SNP	C	C	T			TCGA-HT-7884-01B-11D-2395-08	TCGA-HT-7884-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c13d36-7c29-4e40-8f16-98ea5d746d85	3dc318b4-b8f0-4bc3-87b8-6b29b91f13bf	g.chr16:58030901C>T	ENST00000299237.2	-	2	1891	c.1269G>A	c.(1267-1269)gcG>gcA	p.A423A		NM_020807.1	NP_065858.1	Q9P2F9	ZN319_HUMAN	zinc finger protein 319	423					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(2)|lung(4)|ovary(1)|urinary_tract(1)	8						GCCGCTCGGCCGCGCCGGGCA	0.657													14	40					0	0	1	0	0	T	58030901	C	T	58030901	2	4	288	1	0	0	0	0	0	0	0	1	17894	639	23	1		1	ZNF319	16	58030901	Silent	SNP	C	TCGA-HT-7884-01B-11D-2395-08	55214571	58030901	32323852	31	28613											
RTN4RL1	146760	broad.mit.edu	37	17	1840572	1840572	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7884-01B-11D-2395-08	TCGA-HT-7884-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c13d36-7c29-4e40-8f16-98ea5d746d85	3dc318b4-b8f0-4bc3-87b8-6b29b91f13bf	g.chr17:1840572C>T	ENST00000331238.6	-	2	1023	c.544G>A	c.(544-546)Ggc>Agc	p.G182S		NM_178568.2	NP_848663.1	Q86UN2	R4RL1_HUMAN	reticulon 4 receptor-like 1						axon regeneration	anchored to plasma membrane	receptor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|prostate(2)|skin(1)	11						AGCTTGTTGCCGTGGAGAAAC	0.602													8	63					0	0	1	0	0	T	1840572	C	T	1840572	3	4	288	1	0	0	0	0	1	0	0	0	13783	652	23	1	785	1	RTN4RL1	17	1840572	Missense_Mutation	SNP	C	TCGA-HT-7884-01B-11D-2395-08		1840572	79354638	32	28614											
TP53	7157	broad.mit.edu	37	17	7577076	7577077	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HT-7884-01B-11D-2395-08	TCGA-HT-7884-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c13d36-7c29-4e40-8f16-98ea5d746d85	3dc318b4-b8f0-4bc3-87b8-6b29b91f13bf	g.chr17:7577076_7577077insC	ENST00000420246.2	-	8	993_994	c.861_862insG	c.(859-864)gagaatfs	p.N288fs	TP53_ENST00000445888.2_Frame_Shift_Ins_p.N288fs|TP53_ENST00000359597.4_Frame_Shift_Ins_p.N288fs|TP53_ENST00000455263.2_Frame_Shift_Ins_p.N288fs|TP53_ENST00000269305.4_Frame_Shift_Ins_p.N288fs|TP53_ENST00000413465.2_Intron	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	288	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		N -> D (in a sporadic cancer; somatic mutation).|N -> K (in sporadic cancers; somatic mutation).|N -> S (in sporadic cancers; somatic mutation).|N -> T (in sporadic cancers; somatic mutation).|N -> Y (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.N288fs*13(17)|p.0?(8)|p.E287E(5)|p.N288Y(3)|p.N288fs*18(3)|p.E287D(2)|p.?(2)|p.R283fs*16(2)|p.N288fs*57(2)|p.E286fs*17(2)|p.E285_N288delEEEN(1)|p.E287fs*17(1)|p.R282_E287delRRTEEE(1)|p.T284_G293del10(1)|p.N288D(1)|p.E285fs*13(1)|p.L265_K305del41(1)|p.R283fs*56(1)|p.V272_K292del21(1)|p.N288fs*17(1)|p.N288fs*15(1)|p.E285_L289delEEENL(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)		TTGCGGAGATTCTCTTCCTCTG	0.569		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)			33	42	---	---	---	---						C	7577077	-	C	7577076	7	5	288	1	0	1	1	0	0	0	0	0	16442	1783	62	0	424	0	TP53	17	7577076	Frame_Shift_Ins	INS	-	TCGA-HT-7884-01B-11D-2395-08	5736504	7577076	73618134	33	28615			1	29		2	2	46	N	G_-	6.54117e-05
TP53	7157	broad.mit.edu	37	17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	rs121913343		TCGA-HT-7884-01B-11D-2395-08	TCGA-HT-7884-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c13d36-7c29-4e40-8f16-98ea5d746d85	3dc318b4-b8f0-4bc3-87b8-6b29b91f13bf	g.chr17:7577121G>A	ENST00000420246.2	-	8	949	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000269305.4_Missense_Mutation_p.R273C|TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	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).		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.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			14	17					0	0	1	0	0	A	7577121	G	A	7577121	3	1	288	1	0	0	0	0	1	0	0	0	16442	1087	38	1	469	1	TP53	17	7577121	Missense_Mutation	SNP	G	TCGA-HT-7884-01B-11D-2395-08	45	7577121	73618089	34	28616			1	29		2	2	46	N	G_-	6.54117e-05
LRRC37A3	374819	broad.mit.edu	37	17	62856443	62856443	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7884-01B-11D-2395-08	TCGA-HT-7884-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c13d36-7c29-4e40-8f16-98ea5d746d85	3dc318b4-b8f0-4bc3-87b8-6b29b91f13bf	g.chr17:62856443T>C	ENST00000584306.1	-	11	4351	c.3821A>G	c.(3820-3822)gAc>gGc	p.D1274G	LRRC37A3_ENST00000334962.5_Missense_Mutation_p.D251G|LRRC37A3_ENST00000319651.5_Missense_Mutation_p.D1274G|LRRC37A3_ENST00000400877.3_Missense_Mutation_p.D312G|LRRC37A3_ENST00000339474.5_Missense_Mutation_p.D392G	NM_199340.2	NP_955372.2	O60309	L37A3_HUMAN	leucine rich repeat containing 37, member A3	1274						integral to membrane				NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|liver(1)|lung(10)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						GTGGGTTAAGTCTTTCCATCT	0.458													21	154					0	0	1	0	0	C	62856443	T	C	62856443	3	2	288	1	0	0	0	0	1	0	0	0	9038	1667	58	3	1099	3	LRRC37A3	17	62856443	Missense_Mutation	SNP	T	TCGA-HT-7884-01B-11D-2395-08	55279322	62856443	18338767	35	28617											
USH1G	124590	broad.mit.edu	37	17	72916511	72916511	+	Missense_Mutation	SNP	G	G	C			TCGA-HT-7884-01B-11D-2395-08	TCGA-HT-7884-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c13d36-7c29-4e40-8f16-98ea5d746d85	3dc318b4-b8f0-4bc3-87b8-6b29b91f13bf	g.chr17:72916511G>C	ENST00000319642.1	-	2	602	c.420C>G	c.(418-420)ttC>ttG	p.F140L		NM_001282489.1|NM_173477.2	NP_001269418.1|NP_775748.2	Q495M9	USH1G_HUMAN	Usher syndrome 1G (autosomal recessive)	140					equilibrioception|photoreceptor cell maintenance|sensory perception of sound	actin cytoskeleton			HN1/USH1G(2)	endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(3)	14	all_lung(278;0.172)|Lung NSC(278;0.207)					CCGCCTCGCGGAAGGCCTTGT	0.672													4	67					0	0	1	0	0	C	72916511	G	C	72916511	3	2	288	1	0	0	0	0	1	0	0	0	17095	1165	41	5	973	5	USH1G	17	72916511	Missense_Mutation	SNP	G	TCGA-HT-7884-01B-11D-2395-08	10060068	72916511	8278699	36	28618											
CNDP1	84735	broad.mit.edu	37	18	72201914	72201914	+	Missense_Mutation	SNP	A	A	T			TCGA-HT-7884-01B-11D-2395-08	TCGA-HT-7884-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c13d36-7c29-4e40-8f16-98ea5d746d85	3dc318b4-b8f0-4bc3-87b8-6b29b91f13bf	g.chr18:72201914A>T	ENST00000582365.1	+	1	78	c.12A>T	c.(10-12)aaA>aaT	p.K4N	CNDP1_ENST00000358821.3_Missense_Mutation_p.K4N|CNDP1_ENST00000585136.1_3'UTR			Q96KN2	CNDP1_HUMAN	carnosine dipeptidase 1 (metallopeptidase M20 family)	0					proteolysis	extracellular region	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity|tripeptidase activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27		Esophageal squamous(42;0.129)|Prostate(75;0.157)|Melanoma(33;0.211)		BRCA - Breast invasive adenocarcinoma(31;0.109)		TGGATCCCAAACTCGGGAGAA	0.537													13	33					0	0	1	0	0	T	72201914	A	T	72201914	3	4	288	1	0	0	0	0	1	0	0	0	3616	40	2	5	14	5	CNDP1	18	72201914	Missense_Mutation	SNP	A	TCGA-HT-7884-01B-11D-2395-08		72201914	5875334	37	28619											
MAST3	23031	broad.mit.edu	37	19	18260436	18260436	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7884-01B-11D-2395-08	TCGA-HT-7884-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c13d36-7c29-4e40-8f16-98ea5d746d85	3dc318b4-b8f0-4bc3-87b8-6b29b91f13bf	g.chr19:18260436C>T	ENST00000262811.6	+	27	3830	c.3830C>T	c.(3829-3831)cCg>cTg	p.P1277L	AC007192.6_ENST00000600364.2_RNA	NM_015016.1	NP_055831.1	O60307	MAST3_HUMAN	microtubule associated serine/threonine kinase 3								ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1)	31						TTCGATGAGCCGCAGGAGGAG	0.667													8	32					0	0	1	0	0	T	18260436	C	T	18260436	3	4	288	1	0	0	0	0	1	0	0	0	9376	652	23	1	3936	1	MAST3	19	18260436	Missense_Mutation	SNP	C	TCGA-HT-7884-01B-11D-2395-08		18260436	40868547	38	28620											
DIDO1	11083	broad.mit.edu	37	20	61511961	61511961	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7884-01B-11D-2395-08	TCGA-HT-7884-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c13d36-7c29-4e40-8f16-98ea5d746d85	3dc318b4-b8f0-4bc3-87b8-6b29b91f13bf	g.chr20:61511961C>T	ENST00000266070.4	-	16	5672	c.5347G>A	c.(5347-5349)Gaa>Aaa	p.E1783K	DIDO1_ENST00000395343.1_Missense_Mutation_p.E1783K	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1783	Pro-rich.				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					ATATTCTCTTCTGGAAACGGA	0.612													16	197					0	0	1	0	0	T	61511961	C	T	61511961	3	4	288	1	0	0	0	0	1	0	0	0	4550	922	32	2	1379	2	DIDO1	20	61511961	Missense_Mutation	SNP	C	TCGA-HT-7884-01B-11D-2395-08		61511961	1513559	39	28621			2	30		2	2	32	C		4.506185e-05
DIDO1	11083	broad.mit.edu	37	20	61511992	61511992	+	Silent	SNP	C	C	T			TCGA-HT-7884-01B-11D-2395-08	TCGA-HT-7884-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c13d36-7c29-4e40-8f16-98ea5d746d85	3dc318b4-b8f0-4bc3-87b8-6b29b91f13bf	g.chr20:61511992C>T	ENST00000266070.4	-	16	5641	c.5316G>A	c.(5314-5316)ccG>ccA	p.P1772P	DIDO1_ENST00000395343.1_Silent_p.P1772P	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1772	Pro-rich.				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					CCCTTGGTCCCGGGAAATTGG	0.632													11	198					0	0	1	0	0	T	61511992	C	T	61511992	2	4	288	1	0	0	0	0	0	0	0	1	4550	639	23	1		1	DIDO1	20	61511992	Silent	SNP	C	TCGA-HT-7884-01B-11D-2395-08	31	61511992	1513528	40	28622			2	30		2	2	32	C		4.506185e-05
USP16	10600	broad.mit.edu	37	21	30419419	30419419	+	Silent	SNP	T	T	C			TCGA-HT-7884-01B-11D-2395-08	TCGA-HT-7884-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c13d36-7c29-4e40-8f16-98ea5d746d85	3dc318b4-b8f0-4bc3-87b8-6b29b91f13bf	g.chr21:30419419T>C	ENST00000334352.4	+	15	2019	c.1788T>C	c.(1786-1788)aaT>aaC	p.N596N	USP16_ENST00000535828.1_Silent_p.N225N|USP16_ENST00000399976.2_Silent_p.N596N|USP16_ENST00000399975.3_Silent_p.N595N	NM_001032410.1	NP_001027582.1	Q9Y5T5	UBP16_HUMAN	ubiquitin specific peptidase 16	596					cell division|histone deubiquitination|mitosis|positive regulation of transcription, DNA-dependent|protein homotetramerization|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|histone binding|transcription coactivator activity|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(2)	34						AGATTCTGAATGATAGTCATA	0.378													25	131					0	0	1	0	0	C	30419419	T	C	30419419	2	2	288	1	0	0	0	0	0	0	0	1	17107	1461	51	3		3	USP16	21	30419419	Silent	SNP	T	TCGA-HT-7884-01B-11D-2395-08		30419419	17710476	41	28623											
FRMPD4	9758	broad.mit.edu	37	X	12736148	12736148	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7884-01B-11D-2395-08	TCGA-HT-7884-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c13d36-7c29-4e40-8f16-98ea5d746d85	3dc318b4-b8f0-4bc3-87b8-6b29b91f13bf	g.chrX:12736148T>C	ENST00000380682.1	+	16	3709	c.3203T>C	c.(3202-3204)gTg>gCg	p.V1068A		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	1068					positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						TTTGGTACTGTGTCTTCACGA	0.507													7	157					0	0	1	0	0	C	12736148	T	C	12736148	3	2	288	1	0	0	0	0	1	0	0	0	6094	1696	59	3	3265	3	FRMPD4	23	12736148	Missense_Mutation	SNP	T	TCGA-HT-7884-01B-11D-2395-08		12736148	142534412	42	28624											
PPP1R3F	89801	broad.mit.edu	37	X	49142309	49142309	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7884-01B-11D-2395-08	TCGA-HT-7884-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c13d36-7c29-4e40-8f16-98ea5d746d85	3dc318b4-b8f0-4bc3-87b8-6b29b91f13bf	g.chrX:49142309C>T	ENST00000055335.6	+	4	1173	c.1157C>T	c.(1156-1158)cCg>cTg	p.P386L	PPP1R3F_ENST00000466508.1_Missense_Mutation_p.P40L|PPP1R3F_ENST00000495799.1_Missense_Mutation_p.P40L|PPP1R3F_ENST00000376188.1_Missense_Mutation_p.P40L|PPP1R3F_ENST00000438316.1_Missense_Mutation_p.P57L	NM_033215.4	NP_149992.3	Q6ZSY5	PPR3F_HUMAN	protein phosphatase 1, regulatory subunit 3F	386						integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(4)	27	Ovarian(276;0.236)					TCTGACGTTCCGATGACTGGC	0.577													23	38					0	0	1	0	0	T	49142309	C	T	49142309	3	4	288	1	0	0	0	0	1	0	0	0	12424	652	23	1	1171	1	PPP1R3F	23	49142309	Missense_Mutation	SNP	C	TCGA-HT-7884-01B-11D-2395-08	36406161	49142309	106128251	43	28625											
ATRX	546	broad.mit.edu	37	X	76939673	76939674	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HT-7884-01B-11D-2395-08	TCGA-HT-7884-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c13d36-7c29-4e40-8f16-98ea5d746d85	3dc318b4-b8f0-4bc3-87b8-6b29b91f13bf	g.chrX:76939673_76939674insT	ENST00000373344.5	-	9	1288_1289	c.1074_1075insA	c.(1072-1077)aaactgfs	p.L359fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Ins_p.L321fs	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	359					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						71	136	---	---	---	---						T	76939674	-	T	76939673	7	5	288	1	0	1	1	0	0	0	0	0	1206	1020	36	0	6511	0	ATRX	23	76939673	Frame_Shift_Ins	INS	-	TCGA-HT-7884-01B-11D-2395-08	27797364	76939673	78330887	44	28626											
SERPINA7	6906	broad.mit.edu	37	X	105280577	105280577	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7884-01B-11D-2395-08	TCGA-HT-7884-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c13d36-7c29-4e40-8f16-98ea5d746d85	3dc318b4-b8f0-4bc3-87b8-6b29b91f13bf	g.chrX:105280577A>G	ENST00000327674.4	-	1	808	c.473T>C	c.(472-474)gTc>gCc	p.V158A	SERPINA7_ENST00000372563.1_Missense_Mutation_p.V158A			P05543	THBG_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7	158					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity	p.V158D(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|skin(3)	24					Levothyroxine(DB00451)|Liothyronine(DB00279)	GGTAGAAAAGACTTCAGTCTC	0.438													15	281					0	0	1	0	0	G	105280577	A	G	105280577	3	3	288	1	0	0	0	0	1	0	0	0	14148	275	10	3	790	3	SERPINA7	23	105280577	Missense_Mutation	SNP	A	TCGA-HT-7884-01B-11D-2395-08	28340904	105280577	49989983	45	28627											
HIVEP3	59269	broad.mit.edu	37	1	41990504	41990504	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7902-01A-12D-2395-08	TCGA-HT-7902-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97376c7c-f8e6-4dbf-8ba4-473c5d63c770	b902f262-ad73-455f-8fa4-4d3e4babcd7b	g.chr1:41990504C>T	ENST00000372584.1	-	5	6299	c.5285G>A	c.(5284-5286)cGc>cAc	p.R1762H	HIVEP3_ENST00000247584.5_Missense_Mutation_p.R1762H|HIVEP3_ENST00000372583.1_Missense_Mutation_p.R1762H|HIVEP3_ENST00000429157.2_Missense_Mutation_p.R1762H|HIVEP3_ENST00000460604.1_Intron	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	1762	ZAS2.				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)				CTTCTTGCAGCGAATTCCACA	0.493													19	94					0	0	1	0	0	T	41990504	C	T	41990504	3	4	289	1	0	0	0	0	1	0	0	0	7229	768	27	1	1951	1	HIVEP3	1	41990504	Missense_Mutation	SNP	C	TCGA-HT-7902-01A-12D-2395-08		41990504	207260117	1	28628											
SELENBP1	8991	broad.mit.edu	37	1	151338898	151338898	+	Silent	SNP	G	G	A			TCGA-HT-7902-01A-12D-2395-08	TCGA-HT-7902-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97376c7c-f8e6-4dbf-8ba4-473c5d63c770	b902f262-ad73-455f-8fa4-4d3e4babcd7b	g.chr1:151338898G>A	ENST00000435071.1	-	7	966	c.504C>T	c.(502-504)gaC>gaT	p.D168D	SELENBP1_ENST00000426705.2_Silent_p.D274D|SELENBP1_ENST00000368868.5_Silent_p.D232D|SELENBP1_ENST00000447402.3_Silent_p.D170D			Q13228	SBP1_HUMAN	selenium binding protein 1	232					protein transport	cytosol|membrane|nucleolus	protein binding|selenium binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|urinary_tract(1)	20	Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GGCGCTGCCAGTCCCATACAT	0.572													6	178					0	0	1	0	0	A	151338898	G	A	151338898	2	1	289	1	0	0	0	0	0	0	0	1	14068	1020	36	2		2	SELENBP1	1	151338898	Silent	SNP	G	TCGA-HT-7902-01A-12D-2395-08	109348394	151338898	97911723	2	28629											
PAPPA2	60676	broad.mit.edu	37	1	176668593	176668593	+	Missense_Mutation	SNP	T	T	A			TCGA-HT-7902-01A-12D-2395-08	TCGA-HT-7902-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97376c7c-f8e6-4dbf-8ba4-473c5d63c770	b902f262-ad73-455f-8fa4-4d3e4babcd7b	g.chr1:176668593T>A	ENST00000367662.3	+	8	4268	c.3104T>A	c.(3103-3105)cTc>cAc	p.L1035H		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1035					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						GATGCAGCACTCCTGACTTCT	0.557													9	159					0	0	1	0	0	A	176668593	T	A	176668593	3	1	289	1	0	0	0	0	1	0	0	0	11480	1551	54	5	3183	5	PAPPA2	1	176668593	Missense_Mutation	SNP	T	TCGA-HT-7902-01A-12D-2395-08	25329695	176668593	72582028	3	28630											
USH2A	7399	broad.mit.edu	37	1	215960035	215960035	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7902-01A-12D-2395-08	TCGA-HT-7902-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97376c7c-f8e6-4dbf-8ba4-473c5d63c770	b902f262-ad73-455f-8fa4-4d3e4babcd7b	g.chr1:215960035C>T	ENST00000366943.2	-	52	10750	c.10364G>A	c.(10363-10365)aGt>aAt	p.S3455N	USH2A_ENST00000307340.3_Missense_Mutation_p.S3455N			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3455	Fibronectin type-III 19.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CGTGTTTACACTCCCTGTATG	0.433										HNSCC(13;0.011)			13	89					0	0	1	0	0	T	215960035	C	T	215960035	3	4	289	1	0	0	0	0	1	0	0	0	17096	565	20	2	5328	2	USH2A	1	215960035	Missense_Mutation	SNP	C	TCGA-HT-7902-01A-12D-2395-08	39291442	215960035	33290586	4	28631											
ATAD2B	54454	broad.mit.edu	37	2	23985167	23985167	+	Silent	SNP	C	C	G			TCGA-HT-7902-01A-12D-2395-08	TCGA-HT-7902-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97376c7c-f8e6-4dbf-8ba4-473c5d63c770	b902f262-ad73-455f-8fa4-4d3e4babcd7b	g.chr2:23985167C>G	ENST00000238789.5	-	24	3649	c.3306G>C	c.(3304-3306)cgG>cgC	p.R1102R	ATAD2B_ENST00000474583.1_5'UTR	NM_001242338.1|NM_017552.2	NP_001229267.1|NP_060022.1	Q9ULI0	ATD2B_HUMAN	ATPase family, AAA domain containing 2B	1102							ATP binding|nucleoside-triphosphatase activity			central_nervous_system(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTTCTGTCTTCCGAGCTCCAG	0.388													5	22					0	0	1	0	0	G	23985167	C	G	23985167	2	3	289	1	0	0	0	0	0	0	0	1	1071	842	30	5		5	ATAD2B	2	23985167	Silent	SNP	C	TCGA-HT-7902-01A-12D-2395-08		23985167	219214206	5	28632											
VWA3B	200403	broad.mit.edu	37	2	98744704	98744704	+	Silent	SNP	T	T	C			TCGA-HT-7902-01A-12D-2395-08	TCGA-HT-7902-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97376c7c-f8e6-4dbf-8ba4-473c5d63c770	b902f262-ad73-455f-8fa4-4d3e4babcd7b	g.chr2:98744704T>C	ENST00000477737.1	+	6	909	c.705T>C	c.(703-705)atT>atC	p.I235I	VWA3B_ENST00000435344.1_Silent_p.I235I|VWA3B_ENST00000451075.2_Silent_p.I85I	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	235										NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						TTTTGCAGATTGAATCCATTT	0.468													5	162					0	0	1	0	0	C	98744704	T	C	98744704	2	2	289	1	0	0	0	0	0	0	0	1	17301	1800	63	3		3	VWA3B	2	98744704	Silent	SNP	T	TCGA-HT-7902-01A-12D-2395-08	74759537	98744704	144454669	6	28633											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-HT-7902-01A-12D-2395-08	TCGA-HT-7902-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97376c7c-f8e6-4dbf-8ba4-473c5d63c770	b902f262-ad73-455f-8fa4-4d3e4babcd7b	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								12	52					0	0	1	0	0	T	209113112	C	T	209113112	3	4	289	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HT-7902-01A-12D-2395-08	110368408	209113112	34086261	7	28634											
PECR	55825	broad.mit.edu	37	2	216904042	216904042	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7902-01A-12D-2395-08	TCGA-HT-7902-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97376c7c-f8e6-4dbf-8ba4-473c5d63c770	b902f262-ad73-455f-8fa4-4d3e4babcd7b	g.chr2:216904042C>T	ENST00000265322.7	-	8	942	c.868G>A	c.(868-870)Gtc>Atc	p.V290I		NM_018441.5	NP_060911.2	Q9BY49	PECR_HUMAN	peroxisomal trans-2-enoyl-CoA reductase	290					fatty acid biosynthetic process|regulation of apoptosis	peroxisome	binding|trans-2-enoyl-CoA reductase (NADPH) activity			endometrium(2)|kidney(1)|liver(1)|lung(9)|stomach(1)	14		Renal(323;0.0327)		Epithelial(149;3.8e-06)|all cancers(144;0.000272)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Adenine(DB00173)	ATCTTTTTGACAACAGAAAGG	0.483													17	67					0	0	1	0	0	T	216904042	C	T	216904042	3	4	289	1	0	0	0	0	1	0	0	0	11764	478	17	2	47	2	PECR	2	216904042	Missense_Mutation	SNP	C	TCGA-HT-7902-01A-12D-2395-08	7790930	216904042	26295331	8	28635											
ECEL1	9427	broad.mit.edu	37	2	233348787	233348787	+	Missense_Mutation	SNP	T	T	G			TCGA-HT-7902-01A-12D-2395-08	TCGA-HT-7902-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97376c7c-f8e6-4dbf-8ba4-473c5d63c770	b902f262-ad73-455f-8fa4-4d3e4babcd7b	g.chr2:233348787T>G	ENST00000304546.1	-	7	1541	c.1331A>C	c.(1330-1332)cAg>cCg	p.Q444P	ECEL1_ENST00000409941.1_Missense_Mutation_p.Q444P	NM_004826.2	NP_004817.2	O95672	ECEL1_HUMAN	endothelin converting enzyme-like 1	444					neuropeptide signaling pathway|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000771)|Lung(119;0.00213)|LUSC - Lung squamous cell carcinoma(224;0.00746)		GCGATTGGCCTGGCCCAAGCA	0.617													11	152					0	0	1	0	0	G	233348787	T	G	233348787	3	3	289	1	0	0	0	0	1	0	0	0	4917	1580	55	5	1044	5	ECEL1	2	233348787	Missense_Mutation	SNP	T	TCGA-HT-7902-01A-12D-2395-08	16444745	233348787	9850586	9	28636											
RNPEPL1	57140	broad.mit.edu	37	2	241513688	241513688	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7902-01A-12D-2395-08	TCGA-HT-7902-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97376c7c-f8e6-4dbf-8ba4-473c5d63c770	b902f262-ad73-455f-8fa4-4d3e4babcd7b	g.chr2:241513688A>G	ENST00000270357.4	+	5	997	c.404A>G	c.(403-405)aAc>aGc	p.N135S		NM_018226.4	NP_060696.4	Q9HAU8	RNPL1_HUMAN	arginyl aminopeptidase (aminopeptidase B)-like 1						leukotriene biosynthetic process|proteolysis		aminopeptidase activity|metallopeptidase activity|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	13		all_epithelial(40;1.13e-11)|Breast(86;0.000169)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.204)|Melanoma(123;0.238)		Epithelial(32;3.05e-31)|all cancers(36;8.2e-29)|OV - Ovarian serous cystadenocarcinoma(60;8.55e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.12e-06)|Lung(119;0.00168)|Colorectal(34;0.005)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.0322)		GCTGTCACCAACGCCACGTGG	0.632													22	69					0	0	1	0	0	G	241513688	A	G	241513688	3	3	289	1	0	0	0	0	1	0	0	0	13562	43	2	3	414	3	RNPEPL1	2	241513688	Missense_Mutation	SNP	A	TCGA-HT-7902-01A-12D-2395-08	8164901	241513688	1685685	10	28637											
DNAH1	25981	broad.mit.edu	37	3	52406256	52406256	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-7902-01A-12D-2395-08	TCGA-HT-7902-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97376c7c-f8e6-4dbf-8ba4-473c5d63c770	b902f262-ad73-455f-8fa4-4d3e4babcd7b	g.chr3:52406256G>T	ENST00000420323.2	+	43	6941	c.6680G>T	c.(6679-6681)gGg>gTg	p.G2227V		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	2227	AAA 3 (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CTGTGCATTGGGCCAACAGGC	0.612													3	45					1	1	1	1	0	T	52406256	G	T	52406256	3	4	289	1	0	0	0	0	1	0	0	0	4625	1232	43	5	6846	5	DNAH1	3	52406256	Missense_Mutation	SNP	G	TCGA-HT-7902-01A-12D-2395-08		52406256	145616174	11	28638											
PTPRG	5793	broad.mit.edu	37	3	62248553	62248553	+	Nonsense_Mutation	SNP	C	C	G			TCGA-HT-7902-01A-12D-2395-08	TCGA-HT-7902-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97376c7c-f8e6-4dbf-8ba4-473c5d63c770	b902f262-ad73-455f-8fa4-4d3e4babcd7b	g.chr3:62248553C>G	ENST00000474889.1	+	17	3017	c.2640C>G	c.(2638-2640)taC>taG	p.Y880*	PTPRG_ENST00000295874.10_Nonsense_Mutation_p.Y851*|PTPRG-AS1_ENST00000474795.1_RNA|PTPRG-AS1_ENST00000462497.1_RNA	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	880	Tyrosine-protein phosphatase 1.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	identical protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		AAAACAGATACATCAACATTT	0.393													4	29					0	0	1	0	0	G	62248553	C	G	62248553	4	3	289	1	0	0	0	0	0	1	0	0	12854	489	17	5	2706	5	PTPRG	3	62248553	Nonsense_Mutation	SNP	C	TCGA-HT-7902-01A-12D-2395-08	9842297	62248553	135773877	12	28639											
ANXA3	306	broad.mit.edu	37	4	79512710	79512710	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-7902-01A-12D-2395-08	TCGA-HT-7902-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97376c7c-f8e6-4dbf-8ba4-473c5d63c770	b902f262-ad73-455f-8fa4-4d3e4babcd7b	g.chr4:79512710G>T	ENST00000264908.6	+	7	795	c.416G>T	c.(415-417)aGt>aTt	p.S139I	ANXA3_ENST00000503570.2_Missense_Mutation_p.S100I|ANXA3_ENST00000512884.1_Missense_Mutation_p.S100I	NM_005139.2	NP_005130.1	P12429	ANXA3_HUMAN	annexin A3	139					defense response to bacterium|neutrophil degranulation|phagocytosis|positive regulation of angiogenesis|positive regulation of endothelial cell migration|positive regulation of sequence-specific DNA binding transcription factor activity	phagocytic vesicle membrane|plasma membrane|specific granule	calcium ion binding|calcium-dependent phospholipid binding|phospholipase A2 inhibitor activity			NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						TACAAGAAGAGTCTTGGAGAT	0.338													5	117					2.7689e-08	3.32268e-08	1	1	0	T	79512710	G	T	79512710	3	4	289	1	0	0	0	0	1	0	0	0	713	1029	36	4	438	4	ANXA3	4	79512710	Missense_Mutation	SNP	G	TCGA-HT-7902-01A-12D-2395-08		79512710	111641566	13	28640											
PLCXD3	345557	broad.mit.edu	37	5	41313757	41313757	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-7902-01A-12D-2395-08	TCGA-HT-7902-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97376c7c-f8e6-4dbf-8ba4-473c5d63c770	b902f262-ad73-455f-8fa4-4d3e4babcd7b	g.chr5:41313757G>T	ENST00000377801.3	-	3	1002	c.928C>A	c.(928-930)Ctc>Atc	p.L310I	PLCXD3_ENST00000328457.3_Missense_Mutation_p.L310I			Q63HM9	PLCX3_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 3	310					intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						ACATAGTTGAGCTTTATGACA	0.433													4	73					2.56e-06	2.95385e-06	1	1	0	T	41313757	G	T	41313757	3	4	289	1	0	0	0	0	1	0	0	0	12091	971	34	4	41	4	PLCXD3	5	41313757	Missense_Mutation	SNP	G	TCGA-HT-7902-01A-12D-2395-08		41313757	139601503	14	28641											
TRERF1	55809	broad.mit.edu	37	6	42196333	42196333	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HT-7902-01A-12D-2395-08	TCGA-HT-7902-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97376c7c-f8e6-4dbf-8ba4-473c5d63c770	b902f262-ad73-455f-8fa4-4d3e4babcd7b	g.chr6:42196333delT	ENST00000541110.1	-	18	3981	c.3413delA	c.(3412-3414)aagfs	p.K1138fs	TRERF1_ENST00000372922.4_Frame_Shift_Del_p.K1118fs|TRERF1_ENST00000340840.2_Frame_Shift_Del_p.K1047fs|TRERF1_ENST00000354325.2_Frame_Shift_Del_p.K1035fs|TRERF1_ENST00000372917.4_Frame_Shift_Del_p.K1047fs			Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	1118	Interacts with CREBBP.				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CTTCTGAGCCTTTTGCCTCTG	0.542													7	656	---	---	---	---						-	42196333	T	-	42196333	7	5	289	1	0	1	0	1	0	0	0	0	16536	1609	56	0	253	0	TRERF1	6	42196333	Frame_Shift_Del	DEL	T	TCGA-HT-7902-01A-12D-2395-08		42196333	128918734	15	28642											
MUC17	140453	broad.mit.edu	37	7	100677107	100677107	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HT-7902-01A-12D-2395-08	TCGA-HT-7902-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97376c7c-f8e6-4dbf-8ba4-473c5d63c770	b902f262-ad73-455f-8fa4-4d3e4babcd7b	g.chr7:100677107G>T	ENST00000306151.4	+	3	2474	c.2410G>T	c.(2410-2412)Gga>Tga	p.G804*		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	804	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TCCTAGTGAAGGAAGTCCTTT	0.478													22	524					3.73194e-20	4.56972e-20	1	1	0	T	100677107	G	T	100677107	4	4	289	1	0	0	0	0	0	1	0	0	10022	1001	35	4	2420	4	MUC17	7	100677107	Nonsense_Mutation	SNP	G	TCGA-HT-7902-01A-12D-2395-08		100677107	58461556	16	28643											
ZNF485	220992	broad.mit.edu	37	10	44112250	44112250	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-7902-01A-12D-2395-08	TCGA-HT-7902-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97376c7c-f8e6-4dbf-8ba4-473c5d63c770	b902f262-ad73-455f-8fa4-4d3e4babcd7b	g.chr10:44112250G>T	ENST00000361807.3	+	5	953	c.759G>T	c.(757-759)caG>caT	p.Q253H	ZNF485_ENST00000374435.3_Missense_Mutation_p.Q253H|ZNF485_ENST00000374437.2_Missense_Mutation_p.Q162H	NM_145312.3	NP_660355.2	Q8NCK3	ZN485_HUMAN	zinc finger protein 485	253					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16						CCTTCGCTCAGAATGCAGCTC	0.398													4	79					0.000602214	0.000656961	1	1	0	T	44112250	G	T	44112250	3	4	289	1	0	0	0	0	1	0	0	0	17995	933	33	4	773	4	ZNF485	10	44112250	Missense_Mutation	SNP	G	TCGA-HT-7902-01A-12D-2395-08		44112250	91422497	17	28644											
KRTAP5-1	387264	broad.mit.edu	37	11	1606166	1606166	+	Missense_Mutation	SNP	G	G	C			TCGA-HT-7902-01A-12D-2395-08	TCGA-HT-7902-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97376c7c-f8e6-4dbf-8ba4-473c5d63c770	b902f262-ad73-455f-8fa4-4d3e4babcd7b	g.chr11:1606166G>C	ENST00000382171.2	-	1	347	c.314C>G	c.(313-315)tCc>tGc	p.S105C	KRTAP5-AS1_ENST00000524947.1_RNA|KRTAP5-AS1_ENST00000532922.1_RNA|KRTAP5-AS1_ENST00000424148.1_RNA|KRTAP5-AS1_ENST00000534077.1_RNA	NM_001005922.1	NP_001005922.1	Q6L8H4	KRA51_HUMAN	keratin associated protein 5-1	105	8 X 4 AA repeats of C-C-X-P.					keratin filament				endometrium(3)|kidney(1)|lung(9)|skin(2)|upper_aerodigestive_tract(1)	16		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		GCCCCCCTTGGAGCCCCCACA	0.672													4	84					0	0	1	0	0	C	1606166	G	C	1606166	3	2	289	1	0	0	0	0	1	0	0	0	8598	1174	41	5	526	5	KRTAP5-1	11	1606166	Missense_Mutation	SNP	G	TCGA-HT-7902-01A-12D-2395-08		1606166	133400350	18	28645											
OR4C16	219428	broad.mit.edu	37	11	55339753	55339753	+	Silent	SNP	C	C	T			TCGA-HT-7902-01A-12D-2395-08	TCGA-HT-7902-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97376c7c-f8e6-4dbf-8ba4-473c5d63c770	b902f262-ad73-455f-8fa4-4d3e4babcd7b	g.chr11:55339753C>T	ENST00000314634.3	+	1	150	c.150C>T	c.(148-150)agC>agT	p.S50S		NM_001004701.2	NP_001004701.2	Q8NGL9	OR4CG_HUMAN	olfactory receptor, family 4, subfamily C, member 16 (gene/pseudogene)	50					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41		all_epithelial(135;0.0748)				TCAAGACCAGCCAGGCACTTA	0.388													35	96					0	0	1	0	0	T	55339753	C	T	55339753	2	4	289	1	0	0	0	0	0	0	0	1	11097	738	26	2		2	OR4C16	11	55339753	Silent	SNP	C	TCGA-HT-7902-01A-12D-2395-08	53733587	55339753	79666763	19	28646											
MS4A14	84689	broad.mit.edu	37	11	60164158	60164158	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7902-01A-12D-2395-08	TCGA-HT-7902-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97376c7c-f8e6-4dbf-8ba4-473c5d63c770	b902f262-ad73-455f-8fa4-4d3e4babcd7b	g.chr11:60164158A>G	ENST00000300187.6	+	1	384	c.107A>G	c.(106-108)gAt>gGt	p.D36G	MS4A14_ENST00000531787.1_Intron|MS4A14_ENST00000395005.2_Missense_Mutation_p.D36G|MS4A14_ENST00000531783.1_Missense_Mutation_p.D36G|MS4A14_ENST00000395001.1_5'UTR	NM_032597.4	NP_115986.3	Q96JA4	M4A14_HUMAN	membrane-spanning 4-domains, subfamily A, member 14	36						integral to membrane	receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	62						TCTCTGCTGGATTTTCTGAAG	0.443													5	36					0	0	1	0	0	G	60164158	A	G	60164158	3	3	289	1	0	0	0	0	1	0	0	0	9907	333	12	3	109	3	MS4A14	11	60164158	Missense_Mutation	SNP	A	TCGA-HT-7902-01A-12D-2395-08	4824405	60164158	74842358	20	28647											
MARK2	2011	broad.mit.edu	37	11	63668064	63668064	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7902-01A-12D-2395-08	TCGA-HT-7902-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97376c7c-f8e6-4dbf-8ba4-473c5d63c770	b902f262-ad73-455f-8fa4-4d3e4babcd7b	g.chr11:63668064C>T	ENST00000402010.2	+	9	1381	c.802C>T	c.(802-804)Cgt>Tgt	p.R268C	MARK2_ENST00000425897.2_Missense_Mutation_p.R235C|MARK2_ENST00000502399.3_Missense_Mutation_p.R268C|MARK2_ENST00000361128.5_Missense_Mutation_p.R268C|MARK2_ENST00000509502.2_Missense_Mutation_p.R235C|MARK2_ENST00000350490.7_Missense_Mutation_p.R268C|MARK2_ENST00000377809.4_Missense_Mutation_p.R268C|MARK2_ENST00000508192.1_Missense_Mutation_p.R268C|MARK2_ENST00000408948.3_Missense_Mutation_p.R235C|MARK2_ENST00000315032.8_Missense_Mutation_p.R268C|MARK2_ENST00000377810.3_Missense_Mutation_p.R235C|MARK2_ENST00000413835.2_Missense_Mutation_p.R268C|MARK2_ENST00000513765.2_Missense_Mutation_p.R235C	NM_001039469.2	NP_001034558.2	Q7KZI7	MARK2_HUMAN	MAP/microtubule affinity-regulating kinase 2	268	Protein kinase.				cell differentiation|establishment or maintenance of epithelial cell apical/basal polarity|intracellular protein kinase cascade|multicellular organismal development|response to oxidative stress	plasma membrane	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	p.R235S(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						GGGAAAATACCGTATTCCATT	0.468													6	350					0	0	1	0	0	T	63668064	C	T	63668064	3	4	289	1	0	0	0	0	1	0	0	0	9363	652	23	1	836	1	MARK2	11	63668064	Missense_Mutation	SNP	C	TCGA-HT-7902-01A-12D-2395-08	3503906	63668064	71338452	21	28648											
C11orf30	56946	broad.mit.edu	37	11	76255366	76255366	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7902-01A-12D-2395-08	TCGA-HT-7902-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97376c7c-f8e6-4dbf-8ba4-473c5d63c770	b902f262-ad73-455f-8fa4-4d3e4babcd7b	g.chr11:76255366G>A	ENST00000529032.1	+	18	2773	c.2773G>A	c.(2773-2775)Gtt>Att	p.V925I	C11orf30_ENST00000525038.1_Missense_Mutation_p.V926I|C11orf30_ENST00000524767.1_Missense_Mutation_p.V940I|C11orf30_ENST00000533248.1_Missense_Mutation_p.V834I|C11orf30_ENST00000334736.3_Missense_Mutation_p.V925I|C11orf30_ENST00000524490.1_Missense_Mutation_p.V827I|C11orf30_ENST00000525919.1_Missense_Mutation_p.V926I|C11orf30_ENST00000343878.3_Missense_Mutation_p.V925I			Q7Z589	EMSY_HUMAN	chromosome 11 open reading frame 30	925					chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2)	60						GGAGGGCGAGGTTGAAGAGAT	0.463													4	86					0	0	1	0	0	A	76255366	G	A	76255366	3	1	289	1	0	0	0	0	1	0	0	0	1641	1261	44	2	2843	2	C11orf30	11	76255366	Missense_Mutation	SNP	G	TCGA-HT-7902-01A-12D-2395-08	12587302	76255366	58751150	22	28649											
SLC2A14	144195	broad.mit.edu	37	12	7984329	7984329	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7902-01A-12D-2395-08	TCGA-HT-7902-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97376c7c-f8e6-4dbf-8ba4-473c5d63c770	b902f262-ad73-455f-8fa4-4d3e4babcd7b	g.chr12:7984329G>A	ENST00000543909.1	-	9	971	c.212C>T	c.(211-213)aCg>aTg	p.T71M	SLC2A14_ENST00000396589.2_Missense_Mutation_p.T71M|SLC2A14_ENST00000535295.1_Intron|SLC2A14_ENST00000542546.1_Intron|SLC2A14_ENST00000542505.1_Intron|SLC2A14_ENST00000431042.2_Missense_Mutation_p.T48M|SLC2A14_ENST00000539924.1_Missense_Mutation_p.T86M|SLC2A14_ENST00000340749.5_Missense_Mutation_p.T48M			Q8TDB8	GTR14_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 14	71					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane	glucose transmembrane transporter activity			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	38				Kidney(36;0.0883)		TGCCTTGTCCGTCAAAGTTTT	0.448											OREG0021654	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	100					0	0	1	0	0	A	7984329	G	A	7984329	3	1	289	1	0	0	0	0	1	0	0	0	14598	1145	40	1	1382	1	SLC2A14	12	7984329	Missense_Mutation	SNP	G	TCGA-HT-7902-01A-12D-2395-08		7984329	125867566	23	28650											
GPRC5D	55507	broad.mit.edu	37	12	13103216	13103216	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7902-01A-12D-2395-08	TCGA-HT-7902-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97376c7c-f8e6-4dbf-8ba4-473c5d63c770	b902f262-ad73-455f-8fa4-4d3e4babcd7b	g.chr12:13103216C>T	ENST00000228887.1	-	1	102	c.103G>A	c.(103-105)Gtg>Atg	p.V35M	RP11-392P7.6_ENST00000536029.1_RNA|RP11-392P7.6_ENST00000542078.1_RNA|RP11-392P7.6_ENST00000540198.1_RNA|RP11-392P7.6_ENST00000543515.2_RNA|GPRC5D_ENST00000396333.3_Missense_Mutation_p.V35M|RP11-392P7.6_ENST00000394742.3_RNA|RP11-392P7.6_ENST00000545914.1_RNA	NM_018654.1	NP_061124.1	Q9NZD1	GPC5D_HUMAN	G protein-coupled receptor, family C, group 5, member D	35						integral to membrane|plasma membrane	G-protein coupled receptor activity			kidney(2)|large_intestine(2)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9		Prostate(47;0.183)		BRCA - Breast invasive adenocarcinoma(232;0.15)		ATTGTGACCACGATGCCAAGT	0.532													22	114					0	0	1	0	0	T	13103216	C	T	13103216	3	4	289	1	0	0	0	0	1	0	0	0	6768	536	19	1	944	1	GPRC5D	12	13103216	Missense_Mutation	SNP	C	TCGA-HT-7902-01A-12D-2395-08	5118887	13103216	120748679	24	28651											
NKX2-1	7080	broad.mit.edu	37	14	36988289	36988289	+	Missense_Mutation	SNP	C	C	A			TCGA-HT-7902-01A-12D-2395-08	TCGA-HT-7902-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97376c7c-f8e6-4dbf-8ba4-473c5d63c770	b902f262-ad73-455f-8fa4-4d3e4babcd7b	g.chr14:36988289C>A	ENST00000518149.1	-	2	879	c.274G>T	c.(274-276)Ggc>Tgc	p.G92C	RP11-896J10.3_ENST00000521945.1_RNA|NKX2-1_ENST00000354822.5_Missense_Mutation_p.G122C|NKX2-1_ENST00000522719.2_Missense_Mutation_p.G92C|NKX2-1_ENST00000498187.2_Missense_Mutation_p.G92C			P43699	NKX21_HUMAN	NK2 homeobox 1	92					epithelial tube branching involved in lung morphogenesis|globus pallidus development|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|thyroid gland development		protein binding|transcription regulatory region DNA binding			large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(2)	7	all_cancers(3;4.47e-51)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)|Breast(36;0.165)		Lung(8;1.8e-08)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.014)|all cancers(34;0.0366)|LUSC - Lung squamous cell carcinoma(13;0.132)	GBM - Glioblastoma multiforme(112;0.0171)		CTCATGTTGCCCAGGTTGCCG	0.721			A		NSCLC								5	23					0.184627	0.190994	1	1	0	A	36988289	C	A	36988289	3	1	289	1	0	0	0	0	1	0	0	0	10496	623	22	5	849	5	NKX2-1	14	36988289	Missense_Mutation	SNP	C	TCGA-HT-7902-01A-12D-2395-08		36988289	70361251	25	28652											
TGM5	9333	broad.mit.edu	37	15	43545093	43545093	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HT-7902-01A-12D-2395-08	TCGA-HT-7902-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97376c7c-f8e6-4dbf-8ba4-473c5d63c770	b902f262-ad73-455f-8fa4-4d3e4babcd7b	g.chr15:43545093C>T	ENST00000220420.5	-	6	733	c.726G>A	c.(724-726)tgG>tgA	p.W242*	TGM5_ENST00000349114.4_Nonsense_Mutation_p.W160*	NM_201631.3	NP_963925.2	O43548	TGM5_HUMAN	transglutaminase 5	242					epidermis development|peptide cross-linking	cytoplasm	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1)	44		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;4e-07)	L-Glutamine(DB00130)	AATTCTCACTCCAGTTTCCAT	0.532													15	72					0	0	1	0	0	T	43545093	C	T	43545093	4	4	289	1	0	0	0	0	0	1	0	0	15893	856	30	2	1468	2	TGM5	15	43545093	Nonsense_Mutation	SNP	C	TCGA-HT-7902-01A-12D-2395-08		43545093	58986299	26	28653											
SYNM	23336	broad.mit.edu	37	15	99673028	99673028	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-7902-01A-12D-2395-08	TCGA-HT-7902-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97376c7c-f8e6-4dbf-8ba4-473c5d63c770	b902f262-ad73-455f-8fa4-4d3e4babcd7b	g.chr15:99673028G>T	ENST00000336292.6	+	5	4580	c.4460G>T	c.(4459-4461)gGt>gTt	p.G1487V	SYNM_ENST00000328642.7_Missense_Mutation_p.G1175V|SYNM_ENST00000561323.1_3'UTR|SYNM_ENST00000560674.1_Missense_Mutation_p.G890V	NM_145728.2	NP_663780.2	O15061	SYNEM_HUMAN	synemin, intermediate filament protein	1488	Interaction with DMD and UTRN.|Tail.				intermediate filament cytoskeleton organization	adherens junction|costamere|intermediate filament|neurofilament cytoskeleton	intermediate filament binding|structural constituent of cytoskeleton|structural constituent of muscle|vinculin binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(6)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	29						TCTGACCGTGGTTCCTGGAGA	0.567													11	181					1.58986e-06	1.87043e-06	1	1	0	T	99673028	G	T	99673028	3	4	289	1	0	0	0	0	1	0	0	0	15512	1261	44	5	4476	5	SYNM	15	99673028	Missense_Mutation	SNP	G	TCGA-HT-7902-01A-12D-2395-08	56127935	99673028	2858364	27	28654											
CACNG3	10368	broad.mit.edu	37	16	24372952	24372952	+	Missense_Mutation	SNP	C	C	A			TCGA-HT-7902-01A-12D-2395-08	TCGA-HT-7902-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97376c7c-f8e6-4dbf-8ba4-473c5d63c770	b902f262-ad73-455f-8fa4-4d3e4babcd7b	g.chr16:24372952C>A	ENST00000005284.3	+	4	1918	c.716C>A	c.(715-717)tCc>tAc	p.S239Y		NM_006539.3	NP_006530.1	O60359	CCG3_HUMAN	calcium channel, voltage-dependent, gamma subunit 3	239					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2)	40				GBM - Glioblastoma multiforme(48;0.0809)		AGTTCTCGCTCCACCGAGCCC	0.577													8	106					0.000442599	0.000501056	1	1	0	A	24372952	C	A	24372952	3	1	289	1	0	0	0	0	1	0	0	0	2576	855	30	5	730	5	CACNG3	16	24372952	Missense_Mutation	SNP	C	TCGA-HT-7902-01A-12D-2395-08		24372952	65981801	28	28655											
C16orf46	123775	broad.mit.edu	37	16	81095242	81095242	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HT-7902-01A-12D-2395-08	TCGA-HT-7902-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97376c7c-f8e6-4dbf-8ba4-473c5d63c770	b902f262-ad73-455f-8fa4-4d3e4babcd7b	g.chr16:81095242C>A	ENST00000378611.4	-	3	827	c.712G>T	c.(712-714)Gag>Tag	p.E238*	C16orf46_ENST00000299578.5_Nonsense_Mutation_p.E238*|RP11-303E16.8_ENST00000564536.1_RNA	NM_001100873.1	NP_001094343.1	Q6P387	CP046_HUMAN	chromosome 16 open reading frame 46	238										NS(1)|endometrium(2)|large_intestine(3)|lung(9)|prostate(1)|stomach(1)|urinary_tract(1)	18						AGCACCTTCTCTTCTGACTGC	0.478													5	276					0.014758	0.0155347	1	1	0	A	81095242	C	A	81095242	4	1	289	1	0	0	0	0	0	1	0	0	1822	922	32	4	507	4	C16orf46	16	81095242	Nonsense_Mutation	SNP	C	TCGA-HT-7902-01A-12D-2395-08	56722290	81095242	9259511	29	28656											
TP53	7157	broad.mit.edu	37	17	7578190	7578190	+	Missense_Mutation	SNP	T	T	C	rs121912666		TCGA-HT-7902-01A-12D-2395-08	TCGA-HT-7902-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97376c7c-f8e6-4dbf-8ba4-473c5d63c770	b902f262-ad73-455f-8fa4-4d3e4babcd7b	g.chr17:7578190T>C	ENST00000420246.2	-	6	791	c.659A>G	c.(658-660)tAt>tGt	p.Y220C	TP53_ENST00000445888.2_Missense_Mutation_p.Y220C|TP53_ENST00000359597.4_Missense_Mutation_p.Y220C|TP53_ENST00000413465.2_Missense_Mutation_p.Y220C|TP53_ENST00000455263.2_Missense_Mutation_p.Y220C|TP53_ENST00000574684.1_Intron|TP53_ENST00000269305.4_Missense_Mutation_p.Y220C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	220	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 a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.Y220C(278)|p.Y127C(24)|p.Y220S(12)|p.?(11)|p.0?(8)|p.D208fs*1(1)|p.Y220_P223delYEPP(1)|p.V218_E224delVPYEPPE(1)|p.V218_E221delVPYE(1)|p.Y127S(1)|p.V218_Y220delVPY(1)|p.Y220fs*25(1)|p.V216_Y220delVVVPY(1)|p.Y220fs*2(1)|p.V218fs*26(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)		AGGCGGCTCATAGGGCACCAC	0.557		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)			5	45					0	0	1	0	0	C	7578190	T	C	7578190	3	2	289	1	0	0	0	0	1	0	0	0	16442	1406	49	3	635	3	TP53	17	7578190	Missense_Mutation	SNP	T	TCGA-HT-7902-01A-12D-2395-08		7578190	73617020	30	28657											
TP53	7157	broad.mit.edu	37	17	7578403	7578403	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7902-01A-12D-2395-08	TCGA-HT-7902-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97376c7c-f8e6-4dbf-8ba4-473c5d63c770	b902f262-ad73-455f-8fa4-4d3e4babcd7b	g.chr17:7578403C>T	ENST00000420246.2	-	5	659	c.527G>A	c.(526-528)tGc>tAc	p.C176Y	TP53_ENST00000445888.2_Missense_Mutation_p.C176Y|TP53_ENST00000359597.4_Missense_Mutation_p.C176Y|TP53_ENST00000413465.2_Missense_Mutation_p.C176Y|TP53_ENST00000455263.2_Missense_Mutation_p.C176Y|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000269305.4_Missense_Mutation_p.C176Y	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	176	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in sporadic cancers; somatic mutation).|CP -> FS (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.C176F(129)|p.C176Y(63)|p.C83F(9)|p.C44F(9)|p.C176S(8)|p.0?(8)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.C44Y(3)|p.C83Y(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.C176fs*65(1)|p.C176_P177delCP(1)|p.V173fs*69(1)|p.C176fs*68(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.C176del(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H178fs*3(1)|p.R174fs*3(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)		ATGGTGGGGGCAGCGCCTCAC	0.652		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)			16	61					0	0	1	0	0	T	7578403	C	T	7578403	3	4	289	1	0	0	0	0	1	0	0	0	16442	710	25	2	771	2	TP53	17	7578403	Missense_Mutation	SNP	C	TCGA-HT-7902-01A-12D-2395-08	213	7578403	73616807	31	28658											
ZNF287	57336	broad.mit.edu	37	17	16456736	16456736	+	Missense_Mutation	SNP	C	C	A			TCGA-HT-7902-01A-12D-2395-08	TCGA-HT-7902-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97376c7c-f8e6-4dbf-8ba4-473c5d63c770	b902f262-ad73-455f-8fa4-4d3e4babcd7b	g.chr17:16456736C>A	ENST00000395824.1	-	6	1337	c.720G>T	c.(718-720)tgG>tgT	p.W240C	ZNF287_ENST00000395825.3_Missense_Mutation_p.W240C			Q9HBT7	ZN287_HUMAN	zinc finger protein 287	233					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|prostate(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (92;0.083)		CTTTAGTTTCCCATTCTGaaa	0.318													5	102					0.000602214	0.000656961	1	1	0	A	16456736	C	A	16456736	3	1	289	1	0	0	0	0	1	0	0	0	17882	624	22	5	1569	5	ZNF287	17	16456736	Missense_Mutation	SNP	C	TCGA-HT-7902-01A-12D-2395-08	8878333	16456736	64738474	32	28659											
GRB7	2886	broad.mit.edu	37	17	37902199	37902199	+	Missense_Mutation	SNP	G	G	A	rs149195822		TCGA-HT-7902-01A-12D-2395-08	TCGA-HT-7902-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97376c7c-f8e6-4dbf-8ba4-473c5d63c770	b902f262-ad73-455f-8fa4-4d3e4babcd7b	g.chr17:37902199G>A	ENST00000309156.4	+	13	1561	c.1304G>A	c.(1303-1305)cGc>cAc	p.R435H	GRB7_ENST00000445327.2_Missense_Mutation_p.R458H|GRB7_ENST00000309185.3_Intron|GRB7_ENST00000394209.2_Missense_Mutation_p.R435H|GRB7_ENST00000394204.1_Intron|GRB7_ENST00000394211.3_Missense_Mutation_p.R435H	NM_005310.3	NP_005301.2	Q14451	GRB7_HUMAN	growth factor receptor-bound protein 7	435	SH2.				blood coagulation|epidermal growth factor receptor signaling pathway|leukocyte migration|negative regulation of translation|positive regulation of cell migration|stress granule assembly	cytosol|focal adhesion|stress granule	phosphatidylinositol binding|protein kinase binding|SH3/SH2 adaptor activity	p.R435H(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;6.86e-60)|all cancers(3;1.65e-53)|BRCA - Breast invasive adenocarcinoma(8;2.03e-43)|STAD - Stomach adenocarcinoma(3;1.43e-12)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			TTCCACGGGCGCATTTCCCGT	0.622													5	291					0	0	1	0	0	A	37902199	G	A	37902199	3	1	289	1	0	0	0	0	1	0	0	0	6800	1087	38	1	1350	1	GRB7	17	37902199	Missense_Mutation	SNP	G	TCGA-HT-7902-01A-12D-2395-08	21445463	37902199	43293011	33	28660											
GZMM	3004	broad.mit.edu	37	19	549133	549133	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HT-7902-01A-12D-2395-08	TCGA-HT-7902-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97376c7c-f8e6-4dbf-8ba4-473c5d63c770	b902f262-ad73-455f-8fa4-4d3e4babcd7b	g.chr19:549133delC	ENST00000264553.3	+	4	598	c.560delC	c.(559-561)tccfs	p.S187fs		NM_001258351.1|NM_005317.3	NP_001245280.1|NP_005308	P51124	GRAM_HUMAN	granzyme M (lymphocyte met-ase 1)	187	Peptidase S1.				apoptosis|cytolysis|innate immune response|proteolysis	extracellular region	serine-type endopeptidase activity			endometrium(1)|large_intestine(1)|prostate(1)	3		all_cancers(10;1.94e-35)|all_epithelial(18;5.94e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)		GGCAGCCTCTCCCCCAGCATG	0.706													2	4	---	---	---	---						-	549133	C	-	549133	7	5	289	1	0	1	0	1	0	0	0	0	6960	855	30	0	574	0	GZMM	19	549133	Frame_Shift_Del	DEL	C	TCGA-HT-7902-01A-12D-2395-08		549133	58579850	34	28661											
TIMM44	10469	broad.mit.edu	37	19	7997604	7997604	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7902-01A-12D-2395-08	TCGA-HT-7902-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97376c7c-f8e6-4dbf-8ba4-473c5d63c770	b902f262-ad73-455f-8fa4-4d3e4babcd7b	g.chr19:7997604C>T	ENST00000270538.3	-	9	1163	c.895G>A	c.(895-897)Gtg>Atg	p.V299M		NM_006351.3	NP_006342.2	O43615	TIM44_HUMAN	translocase of inner mitochondrial membrane 44 homolog (yeast)	299					protein targeting to mitochondrion	mitochondrial inner membrane presequence translocase complex|mitochondrial matrix	ATP binding|P-P-bond-hydrolysis-driven protein transmembrane transporter activity			NS(1)|endometrium(3)|kidney(3)|large_intestine(2)|liver(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	17						TCCGTGAGCACCTCCGACATC	0.652													18	95					0	0	1	0	0	T	7997604	C	T	7997604	3	4	289	1	0	0	0	0	1	0	0	0	15972	507	18	2	483	2	TIMM44	19	7997604	Missense_Mutation	SNP	C	TCGA-HT-7902-01A-12D-2395-08	7448471	7997604	51131379	35	28662											
MUC16	94025	broad.mit.edu	37	19	9073488	9073488	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-7902-01A-12D-2395-08	TCGA-HT-7902-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97376c7c-f8e6-4dbf-8ba4-473c5d63c770	b902f262-ad73-455f-8fa4-4d3e4babcd7b	g.chr19:9073488G>T	ENST00000397910.4	-	3	14161	c.13958C>A	c.(13957-13959)aCa>aAa	p.T4653K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4655	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGGGAACTTTGTTGACTGAGC	0.458													8	119					0.00307968	0.00329966	1	1	0	T	9073488	G	T	9073488	3	4	289	1	0	0	0	0	1	0	0	0	10021	1377	48	5	29893	5	MUC16	19	9073488	Missense_Mutation	SNP	G	TCGA-HT-7902-01A-12D-2395-08	1075884	9073488	50055495	36	28663											
SBF1	6305	broad.mit.edu	37	22	50903540	50903540	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7902-01A-12D-2395-08	TCGA-HT-7902-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97376c7c-f8e6-4dbf-8ba4-473c5d63c770	b902f262-ad73-455f-8fa4-4d3e4babcd7b	g.chr22:50903540G>A	ENST00000380817.3	-	12	1405	c.1222C>T	c.(1222-1224)Cgt>Tgt	p.R408C	SBF1_ENST00000390679.3_Missense_Mutation_p.R408C|SBF1_ENST00000348911.6_Missense_Mutation_p.R409C	NM_002972.2	NP_002963.2	O95248	MTMR5_HUMAN	SET binding factor 1		dDENN.				protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		ACCAGCCCACGCTGGCCCAGG	0.632													4	46					0	0	1	0	0	A	50903540	G	A	50903540	3	1	289	1	0	0	0	0	1	0	0	0	13911	1087	38	1	4579	1	SBF1	22	50903540	Missense_Mutation	SNP	G	TCGA-HT-7902-01A-12D-2395-08		50903540	401026	37	28664											
ATRX	546	broad.mit.edu	37	X	76849196	76849196	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7902-01A-12D-2395-08	TCGA-HT-7902-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97376c7c-f8e6-4dbf-8ba4-473c5d63c770	b902f262-ad73-455f-8fa4-4d3e4babcd7b	g.chrX:76849196A>G	ENST00000373344.5	-	26	6294	c.6080T>C	c.(6079-6081)cTt>cCt	p.L2027P	ATRX_ENST00000395603.3_Missense_Mutation_p.L1989P|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	2027	Helicase C-terminal.				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)	TGCCATTCGAAGAATTTCAAA	0.348			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						18	68					0	0	1	0	0	G	76849196	A	G	76849196	3	3	289	1	0	0	0	0	1	0	0	0	1206	72	3	3	1438	3	ATRX	23	76849196	Missense_Mutation	SNP	A	TCGA-HT-7902-01A-12D-2395-08		76849196	78421364	38	28665											
SMARCA1	6594	broad.mit.edu	37	X	128633716	128633716	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HT-7902-01A-12D-2395-08	TCGA-HT-7902-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97376c7c-f8e6-4dbf-8ba4-473c5d63c770	b902f262-ad73-455f-8fa4-4d3e4babcd7b	g.chrX:128633716G>A	ENST00000371122.4	-	10	1399	c.1270C>T	c.(1270-1272)Cga>Tga	p.R424*	SMARCA1_ENST00000371121.3_Nonsense_Mutation_p.R424*|SMARCA1_ENST00000371123.1_Nonsense_Mutation_p.R424*	NM_003069.3	NP_003060.2	P28370	SMCA1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1	424					ATP-dependent chromatin remodeling|brain development|neuron differentiation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	NURF complex	ATP binding|DNA binding|helicase activity|nucleosome binding|protein binding			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1)	45						CACCATTCTCGTTGCATCTTA	0.318													31	94					0	0	1	0	0	A	128633716	G	A	128633716	4	1	289	1	0	0	0	0	0	1	0	0	14822	1153	40	1	1954	1	SMARCA1	23	128633716	Nonsense_Mutation	SNP	G	TCGA-HT-7902-01A-12D-2395-08	51784520	128633716	26636844	39	28666											
CCDC88A	55704	broad.mit.edu	37	2	55582839	55582839	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8010-01A-11D-2395-08	TCGA-HT-8010-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fafd282-546e-4f61-b4f3-11fcc9afe5ef	75055f5e-3025-4fe5-9955-2be30e9ed69a	g.chr2:55582839G>A	ENST00000436346.1	-	8	1517	c.676C>T	c.(676-678)Cat>Tat	p.H226Y	CCDC88A_ENST00000263630.8_Missense_Mutation_p.H226Y|CCDC88A_ENST00000413716.2_Missense_Mutation_p.H226Y|CCDC88A_ENST00000336838.6_Missense_Mutation_p.H226Y	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A	226					activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade	cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						GAAGAGGCATGGGGTAGAAAA	0.443													18	50					0	0	1	0	0	A	55582839	G	A	55582839	3	1	290	1	0	0	0	0	1	0	0	0	2883	1348	47	2	5039	2	CCDC88A	2	55582839	Missense_Mutation	SNP	G	TCGA-HT-8010-01A-11D-2395-08		55582839	187616534	1	28667											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-HT-8010-01A-11D-2395-08	TCGA-HT-8010-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fafd282-546e-4f61-b4f3-11fcc9afe5ef	75055f5e-3025-4fe5-9955-2be30e9ed69a	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	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								24	58					0	0	1	0	0	T	209113112	C	T	209113112	3	4	290	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HT-8010-01A-11D-2395-08	153530273	209113112	34086261	2	28668											
DST	667	broad.mit.edu	37	6	56420389	56420389	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-8010-01A-11D-2395-08	TCGA-HT-8010-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fafd282-546e-4f61-b4f3-11fcc9afe5ef	75055f5e-3025-4fe5-9955-2be30e9ed69a	g.chr6:56420389T>C	ENST00000370754.5	-	60	14796	c.14797A>G	c.(14797-14799)Agt>Ggt	p.S4933G	DST_ENST00000361203.3_Missense_Mutation_p.S4753G|DST_ENST00000370769.4_Missense_Mutation_p.S4755G|DST_ENST00000446842.2_Missense_Mutation_p.S4429G|DST_ENST00000312431.6_3'UTR|DST_ENST00000421834.2_Missense_Mutation_p.S2667G|DST_ENST00000244364.6_Missense_Mutation_p.S2341G|DST_ENST00000370788.2_Missense_Mutation_p.S2667G			Q03001	DYST_HUMAN	dystonin	4753					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TCCAAGTCACTCAGTTTATCA	0.453													7	63					0	0	1	0	0	C	56420389	T	C	56420389	3	2	290	1	0	0	0	0	1	0	0	0	4809	1551	54	3	8670	3	DST	6	56420389	Missense_Mutation	SNP	T	TCGA-HT-8010-01A-11D-2395-08		56420389	114694678	3	28669											
TMEM68	137695	broad.mit.edu	37	8	56663637	56663637	+	Silent	SNP	G	G	A			TCGA-HT-8010-01A-11D-2395-08	TCGA-HT-8010-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fafd282-546e-4f61-b4f3-11fcc9afe5ef	75055f5e-3025-4fe5-9955-2be30e9ed69a	g.chr8:56663637G>A	ENST00000434581.2	-	5	772	c.573C>T	c.(571-573)caC>caT	p.H191H	TMEM68_ENST00000334667.2_Silent_p.H191H|TMEM68_ENST00000523073.1_Silent_p.H77H|TMEM68_ENST00000519784.1_Silent_p.H77H			Q96MH6	TMM68_HUMAN	transmembrane protein 68	191						integral to membrane	acyltransferase activity			NS(1)|kidney(1)|lung(2)|ovary(1)|skin(1)	6			Epithelial(17;0.000361)|all cancers(17;0.00326)			TAGCTAACAAGTGGCCACTCC	0.418													20	86					0	0	1	0	0	A	56663637	G	A	56663637	2	1	290	1	0	0	0	0	0	0	0	1	16257	1020	36	2		2	TMEM68	8	56663637	Silent	SNP	G	TCGA-HT-8010-01A-11D-2395-08		56663637	89700385	4	28670											
SLC4A8	9498	broad.mit.edu	37	12	51882579	51882579	+	Missense_Mutation	SNP	A	A	G	rs138940118		TCGA-HT-8010-01A-11D-2395-08	TCGA-HT-8010-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fafd282-546e-4f61-b4f3-11fcc9afe5ef	75055f5e-3025-4fe5-9955-2be30e9ed69a	g.chr12:51882579A>G	ENST00000453097.2	+	18	2600	c.2383A>G	c.(2383-2385)Atc>Gtc	p.I795V	SLC4A8_ENST00000358657.3_Missense_Mutation_p.I822V	NM_001039960.2|NM_001258401.2	NP_001035049.1|NP_001245330.1	Q2Y0W8	S4A8_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 8	795					bicarbonate transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5)	55				BRCA - Breast invasive adenocarcinoma(357;0.15)		TCTCTGTACTATCTTGATATT	0.453													6	86					0	0	1	0	0	G	51882579	A	G	51882579	3	3	290	1	0	0	0	0	1	0	0	0	14714	449	16	3	2453	3	SLC4A8	12	51882579	Missense_Mutation	SNP	A	TCGA-HT-8010-01A-11D-2395-08		51882579	81969316	5	28671											
ITGAL	3683	broad.mit.edu	37	16	30500576	30500576	+	Splice_Site	SNP	G	G	A			TCGA-HT-8010-01A-11D-2395-08	TCGA-HT-8010-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fafd282-546e-4f61-b4f3-11fcc9afe5ef	75055f5e-3025-4fe5-9955-2be30e9ed69a	g.chr16:30500576G>A	ENST00000356798.6	+	11	1262	c.1082G>A	c.(1081-1083)gGc>gAc	p.G361D	RP11-297C4.2_ENST00000569459.1_RNA|ITGAL_ENST00000568012.1_Intron|ITGAL_ENST00000433423.2_Intron|ITGAL_ENST00000358164.5_Splice_Site_p.G278D	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	361					blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	integrin complex	cell adhesion molecule binding|receptor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Efalizumab(DB00095)	CCTGGGCAGGGCCATGCAGTC	0.622													20	54					0	0	1	0	0	A	30500576	G	A	30500576	5	1	290	1	0	0	0	0	0	0	1	0	7930	1217	42	2	1124	2	ITGAL	16	30500576	Splice_Site	SNP	G	TCGA-HT-8010-01A-11D-2395-08		30500576	59854177	6	28672											
NF1	4763	broad.mit.edu	37	17	29556985	29556985	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HT-8010-01A-11D-2395-08	TCGA-HT-8010-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fafd282-546e-4f61-b4f3-11fcc9afe5ef	75055f5e-3025-4fe5-9955-2be30e9ed69a	g.chr17:29556985delC	ENST00000358273.4	+	22	3366	c.2983delC	c.(2983-2985)ctgfs	p.L995fs	NF1_ENST00000356175.3_Frame_Shift_Del_p.L995fs	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	995					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		GATGTTAAATCTGGTCAGGTA	0.348			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			41	120	---	---	---	---						-	29556985	C	-	29556985	7	5	290	1	0	1	0	1	0	0	0	0	10403	912	32	0	3130	0	NF1	17	29556985	Frame_Shift_Del	DEL	C	TCGA-HT-8010-01A-11D-2395-08		29556985	51638225	7	28673											
SLC25A39	51629	broad.mit.edu	37	17	42400903	42400903	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-8010-01A-11D-2395-08	TCGA-HT-8010-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fafd282-546e-4f61-b4f3-11fcc9afe5ef	75055f5e-3025-4fe5-9955-2be30e9ed69a	g.chr17:42400903T>C	ENST00000225308.8	-	2	202	c.28A>G	c.(28-30)Agc>Ggc	p.S10G	SLC25A39_ENST00000377095.5_Missense_Mutation_p.S10G|SLC25A39_ENST00000586016.1_Intron|SLC25A39_ENST00000590194.1_Missense_Mutation_p.S10G|SLC25A39_ENST00000537904.2_Missense_Mutation_p.S10G	NM_016016.2	NP_057100.1	Q9BZJ4	S2539_HUMAN	solute carrier family 25, member 39	10					heme biosynthetic process|transport	integral to membrane|mitochondrial inner membrane				endometrium(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	7		Prostate(33;0.0233)		BRCA - Breast invasive adenocarcinoma(366;0.189)		TGGAGGGGGCTGATGCCCGCA	0.612													2	11					0	0	1	0	0	C	42400903	T	C	42400903	3	2	290	1	0	0	0	0	1	0	0	0	14558	1580	55	3	1095	3	SLC25A39	17	42400903	Missense_Mutation	SNP	T	TCGA-HT-8010-01A-11D-2395-08	12843918	42400903	38794307	8	28674											
FFAR3	2865	broad.mit.edu	37	19	35850686	35850686	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HT-8010-01A-11D-2395-08	TCGA-HT-8010-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fafd282-546e-4f61-b4f3-11fcc9afe5ef	75055f5e-3025-4fe5-9955-2be30e9ed69a	g.chr19:35850686G>A	ENST00000327809.4	+	2	1095	c.894G>A	c.(892-894)tgG>tgA	p.W298*	FFAR3_ENST00000594310.1_Nonsense_Mutation_p.W298*	NM_005304.3	NP_005295.1	O14843	FFAR3_HUMAN	free fatty acid receptor 3	298						integral to plasma membrane	G-protein coupled receptor activity|lipid binding			endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|stomach(1)	17	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;1.29e-19)|OV - Ovarian serous cystadenocarcinoma(14;4.63e-18)|all cancers(14;5.19e-17)|LUSC - Lung squamous cell carcinoma(66;0.0221)			GTGGGCTCTGGGGCCAGTGGC	0.587													7	48					0	0	1	0	0	A	35850686	G	A	35850686	4	1	290	1	0	0	0	0	0	1	0	0	5862	1241	43	2	896	2	FFAR3	19	35850686	Nonsense_Mutation	SNP	G	TCGA-HT-8010-01A-11D-2395-08		35850686	23278297	9	28675											
NKPD1	284353	broad.mit.edu	37	19	45655769	45655771	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-HT-8010-01A-11D-2395-08	TCGA-HT-8010-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fafd282-546e-4f61-b4f3-11fcc9afe5ef	75055f5e-3025-4fe5-9955-2be30e9ed69a	g.chr19:45655769_45655771delCTG	ENST00000317951.4	-	4	1923_1925	c.1924_1926delCAG	c.(1924-1926)cagdel	p.Q642del	NKPD1_ENST00000589776.1_In_Frame_Del_p.Q420del|NKPD1_ENST00000438936.2_In_Frame_Del_p.Q420del|NKPD1_ENST00000429338.1_In_Frame_Del_p.Q420del	NM_198478.3	NP_940880.3			NTPase, KAP family P-loop domain containing 1											endometrium(1)|lung(4)|prostate(2)|urinary_tract(1)	8		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00863)|GBM - Glioblastoma multiforme(486;0.231)		CAAAGTCCCCCTGCTGCTGCTGC	0.704													2	4	---	---	---	---						-	45655771	CTG	-	45655769	7	5	290	1	0	1	0	1	0	0	0	0	10493	680	24	0	576	0	NKPD1	19	45655769	In_Frame_Del	DEL	CTG	TCGA-HT-8010-01A-11D-2395-08	9805083	45655769	13473214	10	28676											
POFUT2	23275	broad.mit.edu	37	21	46685545	46685545	+	Missense_Mutation	SNP	A	A	C			TCGA-HT-8010-01A-11D-2395-08	TCGA-HT-8010-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fafd282-546e-4f61-b4f3-11fcc9afe5ef	75055f5e-3025-4fe5-9955-2be30e9ed69a	g.chr21:46685545A>C	ENST00000349485.5	-	9	1168	c.1142T>G	c.(1141-1143)tTt>tGt	p.F381C	POFUT2_ENST00000471540.1_5'UTR|POFUT2_ENST00000331343.7_3'UTR	NM_133635.4	NP_598368.2	Q9Y2G5	OFUT2_HUMAN	protein O-fucosyltransferase 2	381					fucose metabolic process	endoplasmic reticulum	peptide-O-fucosyltransferase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	20				Colorectal(79;0.243)		GGTGCCAATAAAAAACCTGCA	0.498													12	28					0	0	1	0	0	C	46685545	A	C	46685545	3	2	290	1	0	0	0	0	1	0	0	0	12232	14	1	5	151	5	POFUT2	21	46685545	Missense_Mutation	SNP	A	TCGA-HT-8010-01A-11D-2395-08		46685545	1444350	11	28677											
MFNG	4242	broad.mit.edu	37	22	37882152	37882152	+	Silent	SNP	G	G	A			TCGA-HT-8010-01A-11D-2395-08	TCGA-HT-8010-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fafd282-546e-4f61-b4f3-11fcc9afe5ef	75055f5e-3025-4fe5-9955-2be30e9ed69a	g.chr22:37882152G>A	ENST00000356998.3	-	1	287	c.64C>T	c.(64-66)Ctg>Ttg	p.L22L	MFNG_ENST00000416983.3_Silent_p.L22L	NM_002405.3	NP_002396.2	O00587	MFNG_HUMAN	MFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase	22					pattern specification process	extracellular space|integral to Golgi membrane	O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity			large_intestine(2)|lung(2)|skin(1)	5	Melanoma(58;0.0574)					CGCAGACACAGGAGCCCCATG	0.682													9	41					0	0	1	0	0	A	37882152	G	A	37882152	2	1	290	1	0	0	0	0	0	0	0	1	9575	991	35	2		2	MFNG	22	37882152	Silent	SNP	G	TCGA-HT-8010-01A-11D-2395-08		37882152	13422414	12	28678											
USP11	8237	broad.mit.edu	37	X	47101902	47101902	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8010-01A-11D-2395-08	TCGA-HT-8010-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fafd282-546e-4f61-b4f3-11fcc9afe5ef	75055f5e-3025-4fe5-9955-2be30e9ed69a	g.chrX:47101902C>T	ENST00000377107.2	+	11	1823	c.1469C>T	c.(1468-1470)aCg>aTg	p.T490M	USP11_ENST00000218348.3_Missense_Mutation_p.T533M			P51784	UBP11_HUMAN	ubiquitin specific peptidase 11	533					protein deubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|ovary(3)|pancreas(1)|stomach(1)	40						TCCAAACACACGGGCATCTCG	0.567													12	45					0	0	1	0	0	T	47101902	C	T	47101902	3	4	290	1	0	0	0	0	1	0	0	0	17102	536	19	1	1640	1	USP11	23	47101902	Missense_Mutation	SNP	C	TCGA-HT-8010-01A-11D-2395-08		47101902	108168658	13	28679											
ZNF182	7569	broad.mit.edu	37	X	47836606	47836606	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8010-01A-11D-2395-08	TCGA-HT-8010-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fafd282-546e-4f61-b4f3-11fcc9afe5ef	75055f5e-3025-4fe5-9955-2be30e9ed69a	g.chrX:47836606C>T	ENST00000396965.1	-	7	1230	c.880G>A	c.(880-882)Gaa>Aaa	p.E294K	ZNF182_ENST00000376943.3_Missense_Mutation_p.E275K|ZNF182_ENST00000305127.6_Missense_Mutation_p.E294K	NM_001178099.1	NP_001171570.1	P17025	ZN182_HUMAN	zinc finger protein 182	294					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)	22						TTTCCACATTCAGGACACTCA	0.398													36	87					0	0	1	0	0	T	47836606	C	T	47836606	3	4	290	1	0	0	0	0	1	0	0	0	17808	835	29	2	1043	2	ZNF182	23	47836606	Missense_Mutation	SNP	C	TCGA-HT-8010-01A-11D-2395-08	734704	47836606	107433954	14	28680											
ATP11C	286410	broad.mit.edu	37	X	138886675	138886675	+	Silent	SNP	G	G	C			TCGA-HT-8010-01A-11D-2395-08	TCGA-HT-8010-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fafd282-546e-4f61-b4f3-11fcc9afe5ef	75055f5e-3025-4fe5-9955-2be30e9ed69a	g.chrX:138886675G>C	ENST00000370557.1	-	6	1537	c.510C>G	c.(508-510)acC>acG	p.T170T	ATP11C_ENST00000327569.3_Silent_p.T173T|ATP11C_ENST00000370543.1_Silent_p.T173T|ATP11C_ENST00000361648.2_Silent_p.T173T|ATP11C_ENST00000359686.2_Silent_p.T173T			Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C	173					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)					TGACATAACAGGTTCCATCAG	0.393													74	182					0	0	1	0	0	C	138886675	G	C	138886675	2	2	290	1	0	0	0	0	0	0	0	1	1120	987	35	4		4	ATP11C	23	138886675	Silent	SNP	G	TCGA-HT-8010-01A-11D-2395-08	91050069	138886675	16383885	15	28681											
WDR63	126820	broad.mit.edu	37	1	85551533	85551533	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr1:85551533G>A	ENST00000294664.6	+	7	740	c.560G>A	c.(559-561)cGa>cAa	p.R187Q	WDR63_ENST00000370596.1_Missense_Mutation_p.R187Q|WDR63_ENST00000326813.8_Missense_Mutation_p.R187Q	NM_145172.3	NP_660155.2	Q8IWG1	WDR63_HUMAN	WD repeat domain 63	187										NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)	36				all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)		ATGATTTCTCGAAAACGAAGT	0.373													12	7					0	0	1	0	0	A	85551533	G	A	85551533	3	1	291	1	0	0	0	0	1	0	0	0	17374	1058	37	1	582	1	WDR63	1	85551533	Missense_Mutation	SNP	G	TCGA-HT-8011-01A-11D-2395-08		85551533	163699088	1	28682											
AGL	178	broad.mit.edu	37	1	100361871	100361871	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr1:100361871C>T	ENST00000294724.4	+	25	3767	c.3289C>T	c.(3289-3291)Cgc>Tgc	p.R1097C	AGL_ENST00000370161.2_Missense_Mutation_p.R1081C|AGL_ENST00000361915.3_Missense_Mutation_p.R1097C|AGL_ENST00000370165.3_Missense_Mutation_p.R1097C|AGL_ENST00000361522.4_Missense_Mutation_p.R1080C|AGL_ENST00000361302.3_Missense_Mutation_p.R1081C|AGL_ENST00000370163.3_Missense_Mutation_p.R1097C	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase	1097					glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|isoamylase complex|nucleus	4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		TGGTATTTTCCGCTGCTGGGG	0.373													29	44					0	0	1	0	0	T	100361871	C	T	100361871	3	4	291	1	0	0	0	0	1	0	0	0	381	652	23	1	3452	1	AGL	1	100361871	Missense_Mutation	SNP	C	TCGA-HT-8011-01A-11D-2395-08	14810338	100361871	148888750	2	28683											
OR2M7	391196	broad.mit.edu	37	1	248487786	248487786	+	Missense_Mutation	SNP	A	A	T			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr1:248487786A>T	ENST00000317965.2	-	1	113	c.85T>A	c.(85-87)Ttt>Att	p.F29I		NM_001004691.1	NP_001004691.1	Q8NG81	OR2M7_HUMAN	olfactory receptor, family 2, subfamily M, member 7	29					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(6)|large_intestine(3)|lung(29)|skin(3)	42	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			AGGACCAGAAAGAAGAGGAAG	0.502													106	126					0	0	1	0	0	T	248487786	A	T	248487786	3	4	291	1	0	0	0	0	1	0	0	0	11062	72	3	5	856	5	OR2M7	1	248487786	Missense_Mutation	SNP	A	TCGA-HT-8011-01A-11D-2395-08	148125915	248487786	762835	3	28684											
QPCT	25797	broad.mit.edu	37	2	37594451	37594451	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr2:37594451C>G	ENST00000338415.3	+	4	781	c.623C>G	c.(622-624)tCt>tGt	p.S208C	QPCT_ENST00000537448.1_Missense_Mutation_p.S159C	NM_012413.3	NP_036545.1	Q16769	QPCT_HUMAN	glutaminyl-peptide cyclotransferase	208					peptidyl-pyroglutamic acid biosynthetic process, using glutaminyl-peptide cyclotransferase|proteolysis	extracellular region	acyltransferase activity|glutaminyl-peptide cyclotransferase activity|peptidase activity|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|stomach(2)	17		Ovarian(717;0.051)|all_hematologic(82;0.21)				CTTCACTGGTCTCCTCAAGAT	0.488													28	46					0	0	1	0	0	G	37594451	C	G	37594451	3	3	291	1	0	0	0	0	1	0	0	0	12926	913	32	4	637	4	QPCT	2	37594451	Missense_Mutation	SNP	C	TCGA-HT-8011-01A-11D-2395-08		37594451	205604922	4	28685											
COL6A3	1293	broad.mit.edu	37	2	238249144	238249144	+	Silent	SNP	G	G	A			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr2:238249144G>A	ENST00000295550.4	-	38	8867	c.8415C>T	c.(8413-8415)aaC>aaT	p.N2805N	COL6A3_ENST00000409809.1_Silent_p.N2599N|COL6A3_ENST00000353578.4_Silent_p.N2599N|COL6A3_ENST00000346358.4_Silent_p.N2605N|COL6A3_ENST00000472056.1_Silent_p.N2198N|COL6A3_ENST00000347401.3_Silent_p.N2604N	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	2805	Nonhelical region.|VWFA 12.		N -> T (in dbSNP:rs35848091).		axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		AAGGCTCCTCGTTGAGCTCGG	0.557													34	47					0	0	1	0	0	A	238249144	G	A	238249144	2	1	291	1	0	0	0	0	0	0	0	1	3724	1136	40	1		1	COL6A3	2	238249144	Silent	SNP	G	TCGA-HT-8011-01A-11D-2395-08	200654693	238249144	4950229	5	28686											
KCNH8	131096	broad.mit.edu	37	3	19575087	19575087	+	Silent	SNP	C	C	T	rs151258565	by1000genomes	TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr3:19575087C>T	ENST00000328405.2	+	16	3086	c.2820C>T	c.(2818-2820)ggC>ggT	p.G940G		NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	940						integral to membrane	two-component sensor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						TGCAAACAGGCGGGGCTGCTT	0.542													33	44					0	0	1	0	0	T	19575087	C	T	19575087	2	4	291	1	0	0	0	0	0	0	0	1	8082	755	27	1		1	KCNH8	3	19575087	Silent	SNP	C	TCGA-HT-8011-01A-11D-2395-08		19575087	178447343	6	28687											
PLD1	5337	broad.mit.edu	37	3	171330202	171330202	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr3:171330202G>A	ENST00000356327.5	-	24	2705	c.2635C>T	c.(2635-2637)Cgc>Tgc	p.R879C	PLD1_ENST00000351298.4_Missense_Mutation_p.R917C|PLD1_ENST00000342215.6_3'UTR|PLD1_ENST00000340989.4_Missense_Mutation_p.R917C	NM_001130081.2	NP_001123553.1	Q13393	PLD1_HUMAN	phospholipase D1, phosphatidylcholine-specific	917	Catalytic.				cell communication|chemotaxis|Ras protein signal transduction	endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	AGCATGCTGCGGTCATTTATG	0.493													7	49					0	0	1	0	0	A	171330202	G	A	171330202	3	1	291	1	0	0	0	0	1	0	0	0	12093	1116	39	1	487	1	PLD1	3	171330202	Missense_Mutation	SNP	G	TCGA-HT-8011-01A-11D-2395-08	151755115	171330202	26692228	7	28688											
QDPR	5860	broad.mit.edu	37	4	17513644	17513644	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr4:17513644G>A	ENST00000281243.5	-	1	213	c.34C>T	c.(34-36)Cgg>Tgg	p.R12W	QDPR_ENST00000508623.1_Missense_Mutation_p.R12W|QDPR_ENST00000513615.1_Missense_Mutation_p.R12W|QDPR_ENST00000428702.2_Missense_Mutation_p.R12W	NM_000320.2	NP_000311.2	P09417	DHPR_HUMAN	quinoid dihydropteridine reductase	12					dihydrobiopterin metabolic process|L-phenylalanine catabolic process|tetrahydrobiopterin biosynthetic process	cytosol	6,7-dihydropteridine reductase activity|binding|electron carrier activity			autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	13					NADH(DB00157)	ACCAGCACCCGGCGCGCCTCG	0.756													19	19					0	0	1	0	0	A	17513644	G	A	17513644	3	1	291	1	0	0	0	0	1	0	0	0	12924	1115	39	1	728	1	QDPR	4	17513644	Missense_Mutation	SNP	G	TCGA-HT-8011-01A-11D-2395-08		17513644	173640632	8	28689											
TECRL	253017	broad.mit.edu	37	4	65180375	65180375	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr4:65180375G>T	ENST00000381210.3	-	5	652	c.542C>A	c.(541-543)cCa>cAa	p.P181Q	TECRL_ENST00000513125.1_5'UTR|TECRL_ENST00000507440.1_Missense_Mutation_p.P181Q	NM_001010874.4	NP_001010874.2	Q5HYJ1	TECRL_HUMAN	trans-2,3-enoyl-CoA reductase-like	181					lipid metabolic process	cytoplasm|integral to membrane	oxidoreductase activity, acting on the CH-CH group of donors			endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1)	47						CTGTACCACTGGGTGGCGTAA	0.438													7	18					0.00198382	0.00203817	1	1	0	T	65180375	G	T	65180375	3	4	291	1	0	0	0	0	1	0	0	0	15805	1348	47	5	581	5	TECRL	4	65180375	Missense_Mutation	SNP	G	TCGA-HT-8011-01A-11D-2395-08	47666731	65180375	125973901	9	28690											
CSN3	1448	broad.mit.edu	37	4	71114862	71114862	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr4:71114862A>G	ENST00000304954.3	+	4	321	c.235A>G	c.(235-237)Aca>Gca	p.T79A		NM_005212.2	NP_005203.2	P07498	CASK_HUMAN	casein kappa	79						extracellular region	protein binding			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18						TGTGCCTCGCACATATTATGC	0.448													29	33					0	0	1	0	0	G	71114862	A	G	71114862	3	3	291	1	0	0	0	0	1	0	0	0	3974	159	6	3	245	3	CSN3	4	71114862	Missense_Mutation	SNP	A	TCGA-HT-8011-01A-11D-2395-08	5934487	71114862	120039414	10	28691											
BTC	685	broad.mit.edu	37	4	75673309	75673309	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr4:75673309G>T	ENST00000395743.3	-	5	839	c.479C>A	c.(478-480)aCt>aAt	p.T160N		NM_001729.2	NP_001720.1	P35070	BTC_HUMAN	betacellulin	160					positive regulation of cell division|positive regulation of cell proliferation	extracellular space|integral to membrane|plasma membrane|soluble fraction	epidermal growth factor receptor binding|growth factor activity			central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	10			Lung(101;0.219)			TTTACCCAGAGTTTCCATTTC	0.353													7	13					8.12818e-05	8.46686e-05	1	1	0	T	75673309	G	T	75673309	3	4	291	1	0	0	0	0	1	0	0	0	1552	1029	36	4	61	4	BTC	4	75673309	Missense_Mutation	SNP	G	TCGA-HT-8011-01A-11D-2395-08	4558447	75673309	115480967	11	28692											
PPEF2	5470	broad.mit.edu	37	4	76787356	76787356	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr4:76787356G>T	ENST00000286719.7	-	15	2262	c.1906C>A	c.(1906-1908)Caa>Aaa	p.Q636K		NM_006239.2	NP_006230.2	O14830	PPE2_HUMAN	protein phosphatase, EF-hand calcium binding domain 2	636					detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception	cytoplasm|photoreceptor inner segment|photoreceptor outer segment	calcium ion binding|Hsp70 protein binding|Hsp90 protein binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	50			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			CGACTCAGTTGTTCCTTGGCC	0.493													65	85					1.05635e-38	1.23791e-38	1	1	0	T	76787356	G	T	76787356	3	4	291	1	0	0	0	0	1	0	0	0	12353	1386	48	5	367	5	PPEF2	4	76787356	Missense_Mutation	SNP	G	TCGA-HT-8011-01A-11D-2395-08	1114047	76787356	114366920	12	28693											
RAP1GDS1	5910	broad.mit.edu	37	4	99300314	99300314	+	Splice_Site	SNP	G	G	A			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr4:99300314G>A	ENST00000408927.3	+	5	621	c.508G>A	c.(508-510)Gat>Aat	p.D170N	RAP1GDS1_ENST00000264572.7_Intron|RAP1GDS1_ENST00000408900.3_Intron|RAP1GDS1_ENST00000380158.4_Intron|RAP1GDS1_ENST00000512857.1_Intron|RAP1GDS1_ENST00000339360.5_Splice_Site_p.D171N|RAP1GDS1_ENST00000453712.2_Splice_Site_p.D171N	NM_001100426.1|NM_001100427.1|NM_021159.4	NP_001093896.1|NP_001093897.1|NP_066982.3	P52306	GDS1_HUMAN	RAP1, GTP-GDP dissociation stimulator 1	170							binding|GTPase activator activity			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)	28				OV - Ovarian serous cystadenocarcinoma(123;2.9e-07)|LUSC - Lung squamous cell carcinoma(1;0.0253)|Lung(1;0.0576)		CAATGAGAATGGTAAACAAAA	0.333			T	NUP98	T-ALL								23	50					0	0	1	0	0	A	99300314	G	A	99300314	5	1	291	1	0	0	0	0	0	0	1	0	13091	1362	47	2	529	2	RAP1GDS1	4	99300314	Splice_Site	SNP	G	TCGA-HT-8011-01A-11D-2395-08	22512958	99300314	91853962	13	28694											
SPEF2	79925	broad.mit.edu	37	5	35692734	35692734	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr5:35692734G>A	ENST00000440995.2	+	12	1807	c.1807G>A	c.(1807-1809)Gac>Aac	p.D603N	CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000509059.1_Missense_Mutation_p.D603N|SPEF2_ENST00000356031.3_Missense_Mutation_p.D603N			Q9C093	SPEF2_HUMAN	sperm flagellar 2	603					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AGCATTTCATGACAATGAAAA	0.343													27	34					0	0	1	0	0	A	35692734	G	A	35692734	3	1	291	1	0	0	0	0	1	0	0	0	15091	1290	45	2	1874	2	SPEF2	5	35692734	Missense_Mutation	SNP	G	TCGA-HT-8011-01A-11D-2395-08		35692734	145222526	14	28695											
FAT2	2196	broad.mit.edu	37	5	150948306	150948306	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr5:150948306C>T	ENST00000261800.5	-	1	199	c.187G>A	c.(187-189)Gcg>Acg	p.A63T		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	63	Cadherin 1.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGTGGCTCCGCGAGGTAGATG	0.493													56	105					0	0	1	0	0	T	150948306	C	T	150948306	3	4	291	1	0	0	0	0	1	0	0	0	5723	768	27	1	12954	1	FAT2	5	150948306	Missense_Mutation	SNP	C	TCGA-HT-8011-01A-11D-2395-08	115255572	150948306	29966954	15	28696											
TNRC18	84629	broad.mit.edu	37	7	5372548	5372548	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr7:5372548C>T	ENST00000399537.4	-	19	6200	c.5852G>A	c.(5851-5853)cGc>cAc	p.R1951H	TNRC18_ENST00000430969.1_Missense_Mutation_p.R1951H			O15417	TNC18_HUMAN	trinucleotide repeat containing 18	1951							DNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		GTCGGGACCGCGGGCGCCAGG	0.751													6	21					0	0	1	0	0	T	5372548	C	T	5372548	3	4	291	1	0	0	0	0	1	0	0	0	16399	768	27	1	3102	1	TNRC18	7	5372548	Missense_Mutation	SNP	C	TCGA-HT-8011-01A-11D-2395-08		5372548	153766115	16	28697											
VWC2	375567	broad.mit.edu	37	7	49842318	49842318	+	Silent	SNP	C	C	T			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr7:49842318C>T	ENST00000340652.4	+	3	1264	c.708C>T	c.(706-708)tgC>tgT	p.C236C		NM_198570.3	NP_940972.2	Q2TAL6	VWC2_HUMAN	von Willebrand factor C domain containing 2		VWFC 2.				negative regulation of BMP signaling pathway|positive regulation of neuron differentiation	basement membrane|extracellular space				cervix(1)|endometrium(2)|large_intestine(1)|lung(3)|prostate(1)	8						TGTCTCCATGCGAGAGGTGTC	0.507													33	181					0	0	1	0	0	T	49842318	C	T	49842318	2	4	291	1	0	0	0	0	0	0	0	1	17303	776	27	1		1	VWC2	7	49842318	Silent	SNP	C	TCGA-HT-8011-01A-11D-2395-08	44469770	49842318	109296345	17	28698											
COBL	23242	broad.mit.edu	37	7	51097053	51097053	+	Silent	SNP	C	C	T			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr7:51097053C>T	ENST00000395542.2	-	12	2170	c.1986G>A	c.(1984-1986)gcG>gcA	p.A662A	COBL_ENST00000265136.7_Silent_p.A580A			O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	580										NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					CTTGAAGTGGCGCCAGGGAGT	0.552													19	61					0	0	1	0	0	T	51097053	C	T	51097053	2	4	291	1	0	0	0	0	0	0	0	1	3676	755	27	1		1	COBL	7	51097053	Silent	SNP	C	TCGA-HT-8011-01A-11D-2395-08	1254735	51097053	108041610	18	28699											
DLC1	10395	broad.mit.edu	37	8	12957837	12957837	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr8:12957837C>G	ENST00000276297.4	-	9	2418	c.2009G>C	c.(2008-2010)cGg>cCg	p.R670P	DLC1_ENST00000512044.2_Missense_Mutation_p.R267P|DLC1_ENST00000520226.1_Missense_Mutation_p.R159P|DLC1_ENST00000358919.2_Missense_Mutation_p.R233P	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1	670					actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						GCTCTCCATCCGTTTCAGCAG	0.562													105	88					0	0	1	0	0	G	12957837	C	G	12957837	3	3	291	1	0	0	0	0	1	0	0	0	4578	652	23	5	2617	5	DLC1	8	12957837	Missense_Mutation	SNP	C	TCGA-HT-8011-01A-11D-2395-08		12957837	133406185	19	28700											
DOCK8	81704	broad.mit.edu	37	9	463659	463659	+	Missense_Mutation	SNP	C	C	A			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr9:463659C>A	ENST00000432829.2	+	47	6323	c.6007C>A	c.(6007-6009)Cca>Aca	p.P2003T	RP11-165F24.3_ENST00000591577.1_RNA|RP11-165F24.3_ENST00000608617.1_RNA|DOCK8_ENST00000469391.1_Missense_Mutation_p.P1971T|RP11-165F24.3_ENST00000589387.1_RNA|DOCK8_ENST00000382329.1_Missense_Mutation_p.P1538T|RP11-165F24.3_ENST00000589287.1_RNA|RP11-165F24.3_ENST00000415004.2_RNA|RP11-165F24.3_ENST00000590518.1_RNA|RP11-165F24.3_ENST00000585819.1_RNA|DOCK8_ENST00000453981.1_Missense_Mutation_p.P2071T|RP11-165F24.3_ENST00000593137.1_RNA|RP11-165F24.3_ENST00000588474.1_RNA|RP11-165F24.3_ENST00000592805.1_RNA|RP11-165F24.3_ENST00000586805.1_RNA|RP11-165F24.3_ENST00000588989.1_RNA	NM_203447.3	NP_982272.2	Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	2071					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		ACTGTACAAGCCAATATTCAG	0.478													4	29					0.00909568	0.00921859	1	1	0	A	463659	C	A	463659	3	1	291	1	0	0	0	0	1	0	0	0	4720	739	26	5	6397	5	DOCK8	9	463659	Missense_Mutation	SNP	C	TCGA-HT-8011-01A-11D-2395-08		463659	140749772	20	28701											
RRAGA	10670	broad.mit.edu	37	9	19049841	19049841	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr9:19049841G>T	ENST00000380527.1	+	1	470	c.184G>T	c.(184-186)Gac>Tac	p.D62Y		NM_006570.4	NP_006561.1	Q7L523	RRAGA_HUMAN	Ras-related GTP binding A	62					apoptosis|cellular protein localization|cellular response to amino acid stimulus|positive regulation of cytolysis|positive regulation of TOR signaling cascade|virus-host interaction	Golgi apparatus|lysosome|nucleus	GTP binding|phosphoprotein binding|protein heterodimerization activity|protein homodimerization activity			endometrium(1)|large_intestine(1)|lung(1)	3						GAACCTGTGGGACTGTGGCGG	0.542													16	7					1.99824e-07	2.23683e-07	1	1	0	T	19049841	G	T	19049841	3	4	291	1	0	0	0	0	1	0	0	0	13724	1174	41	5	186	5	RRAGA	9	19049841	Missense_Mutation	SNP	G	TCGA-HT-8011-01A-11D-2395-08	18586182	19049841	122163590	21	28702											
RUSC2	9853	broad.mit.edu	37	9	35560371	35560371	+	Missense_Mutation	SNP	A	A	T			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr9:35560371A>T	ENST00000455600.1	+	10	4303	c.3734A>T	c.(3733-3735)gAg>gTg	p.E1245V		NM_001135999.1	NP_001129471	Q8N2Y8	RUSC2_HUMAN	RUN and SH3 domain containing 2	1245	Poly-Glu.					cytosol				NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			gaggaagaagaggagacagaa	0.682													24	35					0	0	1	0	0	T	35560371	A	T	35560371	3	4	291	1	0	0	0	0	1	0	0	0	13803	304	11	5	3768	5	RUSC2	9	35560371	Missense_Mutation	SNP	A	TCGA-HT-8011-01A-11D-2395-08	16510530	35560371	105653060	22	28703											
OR13C3	138803	broad.mit.edu	37	9	107298219	107298219	+	Silent	SNP	C	C	T	rs145221004		TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr9:107298219C>T	ENST00000374781.2	-	1	918	c.876G>A	c.(874-876)ccG>ccA	p.P292P		NM_001001961.1	NP_001001961.1	Q8NGS6	O13C3_HUMAN	olfactory receptor, family 13, subfamily C, member 3	292					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(1)|skin(1)	19						CTTGAGACTTCGGTTTCGCAT	0.438													39	68					0	0	1	0	0	T	107298219	C	T	107298219	2	4	291	1	0	0	0	0	0	0	0	1	10983	871	31	1		1	OR13C3	9	107298219	Silent	SNP	C	TCGA-HT-8011-01A-11D-2395-08	71737848	107298219	33915212	23	28704											
ANK3	288	broad.mit.edu	37	10	61835813	61835813	+	Missense_Mutation	SNP	G	G	A	rs148024054	byFrequency	TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr10:61835813G>A	ENST00000280772.2	-	37	5017	c.4826C>T	c.(4825-4827)aCg>aTg	p.T1609M	ANK3_ENST00000503366.1_Intron|ANK3_ENST00000373827.2_Intron|ANK3_ENST00000355288.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)		Ser-rich.				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TTTTAAGGGCGTAGCTTCCGT	0.473													52	22					0	0	1	0	0	A	61835813	G	A	61835813	3	1	291	1	0	0	0	0	1	0	0	0	618	1145	40	1	8648	1	ANK3	10	61835813	Missense_Mutation	SNP	G	TCGA-HT-8011-01A-11D-2395-08		61835813	73698934	24	28705											
CDHR1	92211	broad.mit.edu	37	10	85970774	85970774	+	Silent	SNP	G	G	A			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr10:85970774G>A	ENST00000372117.3	+	13	1441	c.1338G>A	c.(1336-1338)gtG>gtA	p.V446V	CDHR1_ENST00000332904.3_Silent_p.V446V|CDHR1_ENST00000440770.2_Intron	NM_033100.2	NP_149091.1	Q96JP9	CDHR1_HUMAN	cadherin-related family member 1	446	Cadherin 4.				homophilic cell adhesion		calcium ion binding|receptor activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						CTGTTGAAGTGAACACCCCAG	0.552													5	112					0	0	1	0	0	A	85970774	G	A	85970774	2	1	291	1	0	0	0	0	0	0	0	1	3140	1277	45	2		2	CDHR1	10	85970774	Silent	SNP	G	TCGA-HT-8011-01A-11D-2395-08	24134961	85970774	49563973	25	28706											
PTEN	5728	broad.mit.edu	37	10	89685307	89685307	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr10:89685307T>C	ENST00000371953.3	+	3	1559	c.202T>C	c.(202-204)Tac>Cac	p.Y68H		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	68	Phosphatase tensin-type.		Y -> H (in CD and BZS; loss of phosphatase activity towards Ins(1,3,4,5)P4 and PtdIns(3,4,5)P3; retains the ability to bind phospholipid membranes).		activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.Y68H(8)|p.?(6)|p.R55fs*1(5)|p.Y68N(2)|p.Y68fs*5(2)|p.Y27fs*1(2)|p.I67_Y68insY(1)|p.V54fs*29(1)|p.R55_L70>S(1)|p.F56fs*2(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TTACAAGATATACAATCTGTA	0.274		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			2	2					0	0	1	0	0	C	89685307	T	C	89685307	3	2	291	1	0	0	0	0	1	0	0	0	12787	1406	49	3	212	3	PTEN	10	89685307	Missense_Mutation	SNP	T	TCGA-HT-8011-01A-11D-2395-08	3714533	89685307	45849440	26	28707											
HBD	3045	broad.mit.edu	37	11	5255603	5255603	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr11:5255603C>T	ENST00000380299.3	-	1	275	c.61G>A	c.(61-63)Gtg>Atg	p.V21M	HBD_ENST00000292901.3_Missense_Mutation_p.V21M	NM_000519.3	NP_000510.1	P02042	HBD_HUMAN	hemoglobin, delta	21			V -> E (in Roosevelt; dbSNP:rs34093840).		blood coagulation	hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity			endometrium(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	16		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;5.69e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACTGCATCCACGTTCACTTTG	0.507													19	37					0	0	1	0	0	T	5255603	C	T	5255603	3	4	291	1	0	0	0	0	1	0	0	0	7020	536	19	1	394	1	HBD	11	5255603	Missense_Mutation	SNP	C	TCGA-HT-8011-01A-11D-2395-08		5255603	129750913	27	28708											
OR5M1	390168	broad.mit.edu	37	11	56380663	56380663	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr11:56380663C>T	ENST00000526538.1	-	1	315	c.316G>A	c.(316-318)Gcc>Acc	p.A106T		NM_001004740.1	NP_001004740.1	Q8NGP8	OR5M1_HUMAN	olfactory receptor, family 5, subfamily M, member 1	106					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A106T(2)		central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|upper_aerodigestive_tract(1)	12						ATCACCAGGGCGATGAAGAGA	0.448													20	30					0	0	1	0	0	T	56380663	C	T	56380663	3	4	291	1	0	0	0	0	1	0	0	0	11219	768	27	1	635	1	OR5M1	11	56380663	Missense_Mutation	SNP	C	TCGA-HT-8011-01A-11D-2395-08	51125060	56380663	78625853	28	28709											
TUBA3C	7278	broad.mit.edu	37	13	19752430	19752430	+	Missense_Mutation	SNP	C	C	T	rs140107190		TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr13:19752430C>T	ENST00000400113.3	-	3	435	c.331G>A	c.(331-333)Ggc>Agc	p.G111S		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	111					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	p.G111S(1)		NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		ATCTCCTTGCCGATGGTGTAA	0.542													50	86					0	0	1	0	0	T	19752430	C	T	19752430	3	4	291	1	0	0	0	0	1	0	0	0	16808	652	23	1	1033	1	TUBA3C	13	19752430	Missense_Mutation	SNP	C	TCGA-HT-8011-01A-11D-2395-08		19752430	95417448	29	28710											
TMEM229B	161145	broad.mit.edu	37	14	67940541	67940541	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr14:67940541C>T	ENST00000357461.2	-	3	509	c.100G>A	c.(100-102)Gtg>Atg	p.V34M	TMEM229B_ENST00000557006.1_Missense_Mutation_p.V34M	NM_182526.2	NP_872332.1	Q8NBD8	T229B_HUMAN	transmembrane protein 229B	34						integral to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5						AAGTTCACCACGAACTCCCAG	0.617													13	14					0	0	1	0	0	T	67940541	C	T	67940541	3	4	291	1	0	0	0	0	1	0	0	0	16208	536	19	1	407	1	TMEM229B	14	67940541	Missense_Mutation	SNP	C	TCGA-HT-8011-01A-11D-2395-08		67940541	39408999	30	28711											
LTBP2	4053	broad.mit.edu	37	14	75022287	75022287	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr14:75022287C>T	ENST00000261978.4	-	4	1326	c.940G>A	c.(940-942)Gcc>Acc	p.A314T	CTD-2207P18.1_ENST00000554552.1_lincRNA|LTBP2_ENST00000557425.1_Intron|LTBP2_ENST00000556690.1_Missense_Mutation_p.A314T	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	314					protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		GGGGGCAGGGCGTTGGAAGAG	0.652													10	109					0	0	1	0	0	T	75022287	C	T	75022287	3	4	291	1	0	0	0	0	1	0	0	0	9119	768	27	1	4657	1	LTBP2	14	75022287	Missense_Mutation	SNP	C	TCGA-HT-8011-01A-11D-2395-08	7081746	75022287	32327253	31	28712											
ESRRB	2103	broad.mit.edu	37	14	76905888	76905888	+	Silent	SNP	C	C	T			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr14:76905888C>T	ENST00000380887.2	+	2	264	c.192C>T	c.(190-192)ggC>ggT	p.G64G	ESRRB_ENST00000507951.1_3'UTR|ESRRB_ENST00000509242.1_Silent_p.G64G|ESRRB_ENST00000261532.7_Silent_p.G64G|ESRRB_ENST00000556177.1_Silent_p.G64G			A2VDJ2	A2VDJ2_HUMAN	estrogen-related receptor beta	64						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(2)|large_intestine(4)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(234;0.0213)		TGTTTGCAGGCGCCGGGCTGG	0.677													20	53					0	0	1	0	0	T	76905888	C	T	76905888	2	4	291	1	0	0	0	0	0	0	0	1	5289	755	27	1		1	ESRRB	14	76905888	Silent	SNP	C	TCGA-HT-8011-01A-11D-2395-08	1883601	76905888	30443652	32	28713											
TCF12	6938	broad.mit.edu	37	15	57554314	57554315	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr15:57554314_57554315insT	ENST00000267811.5	+	16	1722_1723	c.1418_1419insT	c.(1417-1422)tctgtcfs	p.V474fs	TCF12_ENST00000543579.1_Frame_Shift_Ins_p.V328fs|TCF12_ENST00000343827.3_Frame_Shift_Ins_p.V304fs|TCF12_ENST00000557843.1_Frame_Shift_Ins_p.V474fs|TCF12_ENST00000452095.2_Frame_Shift_Ins_p.V494fs|TCF12_ENST00000438423.2_Frame_Shift_Ins_p.V498fs|TCF12_ENST00000333725.5_Frame_Shift_Ins_p.V498fs|TCF12_ENST00000537840.1_Frame_Shift_Ins_p.V238fs|TCF12_ENST00000559703.1_Frame_Shift_Ins_p.V132fs|TCF12_ENST00000559710.1_Frame_Shift_Ins_p.V108fs	NM_003205.3|NM_207038.1	NP_003196.1|NP_996921.1	Q99081	HTF4_HUMAN	transcription factor 12	474					immune response|muscle organ development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	p.S497fs*12(1)	TCF12/NR4A3(2)	breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	36		Colorectal(260;0.0907)		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)		CGGGAAGACTCTGTCAGTCTCA	0.351			T	TEC	extraskeletal myxoid chondrosarcoma								6	10	---	---	---	---						T	57554315	-	T	57554314	7	5	291	1	0	1	1	0	0	0	0	0	15747	913	32	0	1625	0	TCF12	15	57554314	Frame_Shift_Ins	INS	-	TCGA-HT-8011-01A-11D-2395-08		57554314	44977078	33	28714											
HS3ST6	64711	broad.mit.edu	37	16	1962140	1962140	+	Silent	SNP	C	C	T			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr16:1962140C>T	ENST00000454677.2	-	2	596	c.531G>A	c.(529-531)acG>acA	p.T177T	HS3ST6_ENST00000293937.3_Silent_p.T160T|HS3ST6_ENST00000443547.1_Silent_p.T129T			C9JH64	C9JH64_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 6	129										endometrium(2)|lung(2)	4						GGGCCTCTCGCGTCACGAAGT	0.672													17	23					0	0	1	0	0	T	1962140	C	T	1962140	2	4	291	1	0	0	0	0	0	0	0	1	7410	755	27	1		1	HS3ST6	16	1962140	Silent	SNP	C	TCGA-HT-8011-01A-11D-2395-08		1962140	88392613	34	28715											
CREBBP	1387	broad.mit.edu	37	16	3828795	3828795	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr16:3828795delG	ENST00000262367.5	-	9	2656	c.1847delC	c.(1846-1848)cctfs	p.P616fs	CREBBP_ENST00000382070.3_Frame_Shift_Del_p.P578fs	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	616	KIX.				cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding	p.P616R(1)		NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		TGCGGGATCAGGTGTTGGGAA	0.468			"T, N, F, Mis, O"	"MLL, MORF, RUNXBP2"	"ALL, AML, DLBCL, B-NHL "		Rubinstein-Taybi syndrome						46	87	---	---	---	---						-	3828795	G	-	3828795	7	5	291	1	0	1	0	1	0	0	0	0	3884	1000	35	0	5573	0	CREBBP	16	3828795	Frame_Shift_Del	DEL	G	TCGA-HT-8011-01A-11D-2395-08	1866655	3828795	86525958	35	28716											
NFAT5	10725	broad.mit.edu	37	16	69689703	69689703	+	Splice_Site	SNP	G	G	A			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr16:69689703G>A	ENST00000349945.1	+	7	2466		c.e7+1		NFAT5_ENST00000567239.1_Splice_Site|NFAT5_ENST00000566899.1_Splice_Site|NFAT5_ENST00000393742.2_Splice_Site|NFAT5_ENST00000432919.1_Splice_Site|NFAT5_ENST00000354436.2_Splice_Site	NM_138714.3	NP_619728.2	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5, tonicity-responsive						excretion|signal transduction|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						TGACACTGGCGTAAGTACTTA	0.353													15	27					0	0	1	0	0	A	69689703	G	A	69689703	5	1	291	1	0	0	0	0	0	0	1	0	10407	1159	40	1	1219	1	NFAT5	16	69689703	Splice_Site	SNP	G	TCGA-HT-8011-01A-11D-2395-08	65860908	69689703	20665050	36	28717											
TMEM99	147184	broad.mit.edu	37	17	38991040	38991040	+	Nonsense_Mutation	SNP	T	T	A			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr17:38991040T>A	ENST00000301665.3	+	3	576	c.272T>A	c.(271-273)tTg>tAg	p.L91*		NM_001195386.1|NM_001195387.1|NM_145274.3	NP_001182315.1|NP_001182316.1|NP_660317.2	Q8N816	TMM99_HUMAN	transmembrane protein 99	91						integral to membrane				cervix(1)|large_intestine(1)|lung(5)|skin(2)|urinary_tract(1)	10		Breast(137;0.000301)				GGTCATCGGTTGAGAGAAGGA	0.458													79	90					0	0	1	0	0	A	38991040	T	A	38991040	4	1	291	1	0	0	0	0	0	1	0	0	16286	1821	63	5	274	5	TMEM99	17	38991040	Nonsense_Mutation	SNP	T	TCGA-HT-8011-01A-11D-2395-08		38991040	42204170	37	28718											
ACE	1636	broad.mit.edu	37	17	61557154	61557154	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr17:61557154C>T	ENST00000290866.4	+	4	560	c.536C>T	c.(535-537)tCg>tTg	p.S179L	ACE_ENST00000584529.1_3'UTR|ACE_ENST00000428043.1_Missense_Mutation_p.S179L|ACE_ENST00000538928.1_Missense_Mutation_p.S179L	NM_000789.3	NP_000780.1	P12821	ACE_HUMAN	angiotensin I converting enzyme	179	Peptidase M2 1.				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	CTGGCTTCCTCGCGAAGCTAC	0.602													34	53					0	0	1	0	0	T	61557154	C	T	61557154	3	4	291	1	0	0	0	0	1	0	0	0	136	893	31	1	550	1	ACE	17	61557154	Missense_Mutation	SNP	C	TCGA-HT-8011-01A-11D-2395-08	22566114	61557154	19638056	38	28719											
DSG3	1830	broad.mit.edu	37	18	29038477	29038477	+	Missense_Mutation	SNP	C	C	A			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr18:29038477C>A	ENST00000257189.4	+	4	369	c.286C>A	c.(286-288)Cct>Act	p.P96T		NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3	96	Cadherin 1.				cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			CGATCAGCCGCCTTTTGGAAT	0.443													17	33					3.52763e-06	3.83438e-06	1	1	0	A	29038477	C	A	29038477	3	1	291	1	0	0	0	0	1	0	0	0	4804	739	26	5	300	5	DSG3	18	29038477	Missense_Mutation	SNP	C	TCGA-HT-8011-01A-11D-2395-08		29038477	49038771	39	28720											
TCEB3C	162699	broad.mit.edu	37	18	44555313	44555313	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr18:44555313A>G	ENST00000330682.2	-	1	1136	c.901T>C	c.(901-903)Tcc>Ccc	p.S301P	KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000356157.7_Intron	NM_145653.3	NP_663628.2	Q8NG57	ELOA3_HUMAN	transcription elongation factor B polypeptide 3C (elongin A3)	301				S -> C (in Ref. 1; BAC01113).	regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane|nucleus	DNA binding			NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(16)|skin(2)	30						GCTGGCGCGGAGAGTGCTTCT	0.632													59	1863					0	0	1	0	0	G	44555313	A	G	44555313	3	3	291	1	0	0	0	0	1	0	0	0	15743	304	11	3	2386	3	TCEB3C	18	44555313	Missense_Mutation	SNP	A	TCGA-HT-8011-01A-11D-2395-08	15516836	44555313	33521935	40	28721											
ZNF560	147741	broad.mit.edu	37	19	9578276	9578276	+	Silent	SNP	T	T	A			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr19:9578276T>A	ENST00000301480.4	-	10	1560	c.1347A>T	c.(1345-1347)ggA>ggT	p.G449G		NM_152476.2	NP_689689.2	Q96MR9	ZN560_HUMAN	zinc finger protein 560	449					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						CTCTCAAATGTCCAAAAAGAG	0.398													41	48					0	0	1	0	0	A	9578276	T	A	9578276	2	1	291	1	0	0	0	0	0	0	0	1	18048	1654	58	5		5	ZNF560	19	9578276	Silent	SNP	T	TCGA-HT-8011-01A-11D-2395-08		9578276	49550707	41	28722											
CRTC1	23373	broad.mit.edu	37	19	18888133	18888133	+	Missense_Mutation	SNP	C	C	A			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr19:18888133C>A	ENST00000338797.6	+	15	1919	c.1894C>A	c.(1894-1896)Ccc>Acc	p.P632T	CRTC1_ENST00000594658.1_Missense_Mutation_p.P575T|CRTC1_ENST00000321949.8_Missense_Mutation_p.P616T|CRTC1_ENST00000601916.1_Missense_Mutation_p.P374T	NM_001098482.1	NP_001091952.1	Q6UUV9	CRTC1_HUMAN	CREB regulated transcription coactivator 1	616					interspecies interaction between organisms|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	cAMP response element binding protein binding|protein binding		CRTC1/MAML2(516)	NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	19						GCTCAACGACCCCGACATGGT	0.682													168	288					5.35467e-60	6.3746e-60	1	1	0	A	18888133	C	A	18888133	3	1	291	1	0	0	0	0	1	0	0	0	3922	623	22	5	1952	5	CRTC1	19	18888133	Missense_Mutation	SNP	C	TCGA-HT-8011-01A-11D-2395-08	9309857	18888133	40240850	42	28723											
ZNF681	148213	broad.mit.edu	37	19	23926730	23926730	+	Missense_Mutation	SNP	T	T	A			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr19:23926730T>A	ENST00000402377.3	-	4	1763	c.1622A>T	c.(1621-1623)aAa>aTa	p.K541I	ZNF681_ENST00000395385.3_Missense_Mutation_p.K472I	NM_138286.2	NP_612143.2	Q96N22	ZN681_HUMAN	zinc finger protein 681	541					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3)	21		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				GTTAAAGGCTTTGCCACATTC	0.393													13	13					0	0	1	0	0	A	23926730	T	A	23926730	3	1	291	1	0	0	0	0	1	0	0	0	18144	1841	64	5	319	5	ZNF681	19	23926730	Missense_Mutation	SNP	T	TCGA-HT-8011-01A-11D-2395-08	5038597	23926730	35202253	43	28724											
PSG8	440533	broad.mit.edu	37	19	43258728	43258728	+	Missense_Mutation	SNP	G	G	T	rs138526624	byFrequency	TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr19:43258728G>T	ENST00000404209.4	-	5	1096	c.1000C>A	c.(1000-1002)Ctc>Atc	p.L334I	PSG8_ENST00000306511.4_Missense_Mutation_p.L334I|PSG8_ENST00000401467.2_Missense_Mutation_p.L241I|PSG8_ENST00000406636.3_Missense_Mutation_p.L212I|PSG8_ENST00000600709.1_5'UTR	NM_001130167.1	NP_001123639.1	Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8	334						extracellular region				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				ATTCTGGGGAGGTCTGGACCA	0.502													5	82					1.23904e-05	1.32754e-05	1	1	0	T	43258728	G	T	43258728	3	4	291	1	0	0	0	0	1	0	0	0	12710	1000	35	4	305	4	PSG8	19	43258728	Missense_Mutation	SNP	G	TCGA-HT-8011-01A-11D-2395-08	19331998	43258728	15870255	44	28725											
GPR32	2854	broad.mit.edu	37	19	51274118	51274118	+	Silent	SNP	C	C	T			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr19:51274118C>T	ENST00000270590.4	+	1	398	c.261C>T	c.(259-261)gcC>gcT	p.A87A		NM_001506.1	NP_001497.1	O75388	GPR32_HUMAN	G protein-coupled receptor 32	87						integral to plasma membrane	N-formyl peptide receptor activity			breast(4)|endometrium(4)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	29		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		TGGCCCTTGCCGATTTCATGC	0.562													26	46					0	0	1	0	0	T	51274118	C	T	51274118	2	4	291	1	0	0	0	0	0	0	0	1	6728	639	23	1		1	GPR32	19	51274118	Silent	SNP	C	TCGA-HT-8011-01A-11D-2395-08	8015390	51274118	7854865	45	28726											
LILRB2	10288	broad.mit.edu	37	19	54778558	54778558	+	Silent	SNP	G	G	A			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr19:54778558G>A	ENST00000391748.1	-	14	1900	c.1773C>T	c.(1771-1773)taC>taT	p.Y591Y	LILRB2_ENST00000314446.5_Silent_p.Y591Y|LILRB2_ENST00000434421.1_Silent_p.Y476Y|LILRB2_ENST00000391749.4_Silent_p.Y592Y|LILRB2_ENST00000391746.1_3'UTR	NM_001278403.1	NP_001265332.1	Q8N423	LIRB2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2	592					cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CCAGGGTGGCGTAGATGCTGG	0.617													36	67					0	0	1	0	0	A	54778558	G	A	54778558	2	1	291	1	0	0	0	0	0	0	0	1	8831	1140	40	1		1	LILRB2	19	54778558	Silent	SNP	G	TCGA-HT-8011-01A-11D-2395-08	3504440	54778558	4350425	46	28727											
LILRB2	10288	broad.mit.edu	37	19	54780127	54780127	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr19:54780127C>A	ENST00000391748.1	-	12	1712	c.1585G>T	c.(1585-1587)Gaa>Taa	p.E529*	LILRB2_ENST00000314446.5_Nonsense_Mutation_p.E529*|LILRB2_ENST00000434421.1_Nonsense_Mutation_p.E414*|LILRB2_ENST00000391749.4_Nonsense_Mutation_p.E530*|LILRB2_ENST00000391746.1_Missense_Mutation_p.K504N	NM_001278403.1	NP_001265332.1	Q8N423	LIRB2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2	530					cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CAGAGGTTTTCTTCCTGGGCG	0.627													17	111					6.49762e-13	7.38366e-13	1	1	0	A	54780127	C	A	54780127	4	1	291	1	0	0	0	0	0	1	0	0	8831	922	32	4	220	4	LILRB2	19	54780127	Nonsense_Mutation	SNP	C	TCGA-HT-8011-01A-11D-2395-08	1569	54780127	4348856	47	28728											
WISP2	8839	broad.mit.edu	37	20	43344046	43344046	+	Silent	SNP	G	G	A			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr20:43344046G>A	ENST00000372868.2	+	2	358	c.15G>A	c.(13-15)ccG>ccA	p.P5P	RP11-445H22.4_ENST00000427303.1_RNA|WISP2_ENST00000372865.4_Silent_p.P5P|WISP2_ENST00000190983.4_Silent_p.P5P|RP11-445H22.4_ENST00000445420.1_RNA|RP11-445H22.4_ENST00000427598.1_RNA			O76076	WISP2_HUMAN	WNT1 inducible signaling pathway protein 2	5					cell adhesion|cell-cell signaling|signal transduction	extracellular region|soluble fraction	insulin-like growth factor binding			skin(1)	1		Myeloproliferative disorder(115;0.0122)				GAGGCACACCGAAGACCCACC	0.612													5	7					0	0	1	0	0	A	43344046	G	A	43344046	2	1	291	1	0	0	0	0	0	0	0	1	17433	1045	37	1		1	WISP2	20	43344046	Silent	SNP	G	TCGA-HT-8011-01A-11D-2395-08		43344046	19681474	48	28729											
GNAS	2778	broad.mit.edu	37	20	57428501	57428501	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr20:57428501G>A	ENST00000371100.4	+	1	733	c.181G>A	c.(181-183)Gtc>Atc	p.V61I	GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000371099.2_Missense_Mutation_p.V61I|GNAS_ENST00000313949.7_Intron|GNAS_ENST00000371102.4_Missense_Mutation_p.V61I|GNAS_ENST00000371098.2_Intron|GNAS_ENST00000371075.3_Intron	NM_001077490.1|NM_080425.2	NP_001070958.1|NP_536350.2	P63092	GNAS2_HUMAN	GNAS complex locus	0					activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity			adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			GCCCATCCCCGTCGAGAATGA	0.642			Mis		pituitary adenoma		"McCune-Albright syndrome; pseudohypoparathyroidism, type IA"			TSP Lung(22;0.16)			10	14					0	0	1	0	0	A	57428501	G	A	57428501	3	1	291	1	0	0	0	0	1	0	0	0	6552	1145	40	1	925	1	GNAS	20	57428501	Missense_Mutation	SNP	G	TCGA-HT-8011-01A-11D-2395-08	14084455	57428501	5597019	49	28730											
TEF	7008	broad.mit.edu	37	22	41791868	41791868	+	Silent	SNP	C	C	T			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr22:41791868C>T	ENST00000266304.4	+	4	932	c.816C>T	c.(814-816)aaC>aaT	p.N272N	TEF_ENST00000406644.3_Silent_p.N242N	NM_003216.3	NP_003207.1	Q10587	TEF_HUMAN	thyrotrophic embryonic factor	272	Leucine-zipper.				rhythmic process	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(2)|lung(2)|ovary(1)	6						AGAAGGAGAACACAGCCCTGC	0.587													56	80					0	0	1	0	0	T	41791868	C	T	41791868	2	4	291	1	0	0	0	0	0	0	0	1	15809	477	17	2		2	TEF	22	41791868	Silent	SNP	C	TCGA-HT-8011-01A-11D-2395-08		41791868	9512698	50	28731											
MAGEB16	139604	broad.mit.edu	37	X	35821247	35821247	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chrX:35821247G>T	ENST00000399989.1	+	2	1213	c.934G>T	c.(934-936)Gct>Tct	p.A312S	MAGEB16_ENST00000399987.1_Missense_Mutation_p.A312S|MAGEB16_ENST00000399988.1_Missense_Mutation_p.A312S|MAGEB16_ENST00000399992.1_Missense_Mutation_p.A344S|MAGEB16_ENST00000399985.1_Missense_Mutation_p.A312S	NM_001099921.1	NP_001093391.1	A2A368	MAGBG_HUMAN	melanoma antigen family B, 16	312	MAGE.									breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						GTATGCGGAAGCTCTGAAAGA	0.488													5	1					0.184627	0.184627	1	1	0	T	35821247	G	T	35821247	3	4	291	1	0	0	0	0	1	0	0	0	9224	971	34	4	936	4	MAGEB16	23	35821247	Missense_Mutation	SNP	G	TCGA-HT-8011-01A-11D-2395-08		35821247	119449313	51	28732											
STAG2	10735	broad.mit.edu	37	X	123179197	123179197	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chrX:123179197C>T	ENST00000371160.1	+	8	936	c.646C>T	c.(646-648)Cga>Tga	p.R216*	STAG2_ENST00000469481.1_Intron|STAG2_ENST00000218089.9_Nonsense_Mutation_p.R216*|STAG2_ENST00000371144.3_Nonsense_Mutation_p.R216*|STAG2_ENST00000354548.5_Nonsense_Mutation_p.R147*|STAG2_ENST00000371145.3_Nonsense_Mutation_p.R216*|STAG2_ENST00000371157.3_Nonsense_Mutation_p.R216*	NM_001282418.1	NP_001269347.1	Q8N3U4	STAG2_HUMAN	stromal antigen 2	216					cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						CAGAGCATTTCGACATACAAG	0.343													44	13					0	0	1	0	0	T	123179197	C	T	123179197	4	4	291	1	0	0	0	0	0	1	0	0	15299	876	31	1	668	1	STAG2	23	123179197	Nonsense_Mutation	SNP	C	TCGA-HT-8011-01A-11D-2395-08	87357950	123179197	32091363	52	28733											
CCDC27	148870	broad.mit.edu	37	1	3677958	3677958	+	Silent	SNP	C	C	G			TCGA-HT-8012-01A-11D-2395-08	TCGA-HT-8012-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1731d809-8fde-4539-82ab-4cdf461abb88	c2b420d7-bb63-411d-979d-d5b9bd30ebc3	g.chr1:3677958C>G	ENST00000294600.2	+	5	909	c.825C>G	c.(823-825)ggC>ggG	p.G275G		NM_152492.2	NP_689705.2	Q2M243	CCD27_HUMAN	coiled-coil domain containing 27	275										breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(2)|lung(17)|prostate(1)|skin(2)|urinary_tract(2)	36	all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218)	all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)		Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203)		TTCTGAAAGGCAAAGGCCAAG	0.567													4	53					0	0	1	0	0	G	3677958	C	G	3677958	2	3	292	1	0	0	0	0	0	0	0	1	2820	697	25	5		5	CCDC27	1	3677958	Silent	SNP	C	TCGA-HT-8012-01A-11D-2395-08		3677958	245572663	1	28734											
OMA1	115209	broad.mit.edu	37	1	58999969	58999969	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-8012-01A-11D-2395-08	TCGA-HT-8012-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1731d809-8fde-4539-82ab-4cdf461abb88	c2b420d7-bb63-411d-979d-d5b9bd30ebc3	g.chr1:58999969T>C	ENST00000371226.3	-	4	877	c.764A>G	c.(763-765)gAg>gGg	p.E255G	DAB1_ENST00000485760.1_Intron|OMA1_ENST00000467063.1_5'UTR|OMA1_ENST00000358603.2_Missense_Mutation_p.E255G	NM_145243.3	NP_660286.1	Q96E52	OMA1_HUMAN	OMA1 zinc metallopeptidase	255					proteolysis	integral to membrane|mitochondrial membrane	metal ion binding|metalloendopeptidase activity			NS(1)|breast(1)|large_intestine(6)|liver(2)|lung(6)|prostate(1)|skin(1)	18	all_cancers(7;6.54e-05)					GGCATCTTTCTCAGTTAGCAT	0.338													19	3					0	0	1	0	0	C	58999969	T	C	58999969	3	2	292	1	0	0	0	0	1	0	0	0	10912	1551	54	3	834	3	OMA1	1	58999969	Missense_Mutation	SNP	T	TCGA-HT-8012-01A-11D-2395-08	55322011	58999969	190250652	2	28735											
NTRK1	4914	broad.mit.edu	37	1	156841489	156841489	+	Silent	SNP	G	G	A			TCGA-HT-8012-01A-11D-2395-08	TCGA-HT-8012-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1731d809-8fde-4539-82ab-4cdf461abb88	c2b420d7-bb63-411d-979d-d5b9bd30ebc3	g.chr1:156841489G>A	ENST00000368196.3	+	7	912	c.792G>A	c.(790-792)acG>acA	p.T264T	NTRK1_ENST00000358660.3_Silent_p.T264T|NTRK1_ENST00000524377.1_Silent_p.T264T|NTRK1_ENST00000392302.2_Silent_p.T234T	NM_001012331.1	NP_001012331.1	P04629	NTRK1_HUMAN	neurotrophic tyrosine kinase, receptor, type 1	264	Ig-like C2-type 1.				activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Imatinib(DB00619)	AGAACGTGACGTGCTGGGCAG	0.592			T	"TPM3, TPR, TFG"	papillary thyroid					TSP Lung(10;0.080)			9	108					0	0	1	0	0	A	156841489	G	A	156841489	2	1	292	1	0	0	0	0	0	0	0	1	10754	1132	40	1		1	NTRK1	1	156841489	Silent	SNP	G	TCGA-HT-8012-01A-11D-2395-08	97841520	156841489	92409132	3	28736											
IL1RL1	9173	broad.mit.edu	37	2	102959762	102959762	+	Missense_Mutation	SNP	T	T	A			TCGA-HT-8012-01A-11D-2395-08	TCGA-HT-8012-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1731d809-8fde-4539-82ab-4cdf461abb88	c2b420d7-bb63-411d-979d-d5b9bd30ebc3	g.chr2:102959762T>A	ENST00000311734.2	+	8	1196	c.857T>A	c.(856-858)gTt>gAt	p.V286D	IL1RL1_ENST00000409584.1_Missense_Mutation_p.V272D|IL1RL1_ENST00000404917.2_Missense_Mutation_p.V169D|IL1RL1_ENST00000233954.1_Missense_Mutation_p.V286D	NM_001282408.1	NP_001269337.1	Q01638	ILRL1_HUMAN	interleukin 1 receptor-like 1	286	Ig-like C2-type 3.				innate immune response	integral to membrane	interleukin-1 receptor activity|receptor signaling protein activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1)	16						CTAGACATGGTTTTAAGAATA	0.453													45	130					0	0	1	0	0	A	102959762	T	A	102959762	3	1	292	1	0	0	0	0	1	0	0	0	7707	1725	60	5	883	5	IL1RL1	2	102959762	Missense_Mutation	SNP	T	TCGA-HT-8012-01A-11D-2395-08		102959762	140239611	4	28737											
TFCP2L1	29842	broad.mit.edu	37	2	122005806	122005806	+	Silent	SNP	G	G	A			TCGA-HT-8012-01A-11D-2395-08	TCGA-HT-8012-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1731d809-8fde-4539-82ab-4cdf461abb88	c2b420d7-bb63-411d-979d-d5b9bd30ebc3	g.chr2:122005806G>A	ENST00000263707.5	-	5	535	c.438C>T	c.(436-438)agC>agT	p.S146S		NM_014553.2	NP_055368.1	Q9NZI6	TF2L1_HUMAN	transcription factor CP2-like 1	146					female pregnancy|steroid biosynthetic process	mitochondrion|nucleolus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1)|pancreas(2)|skin(1)|stomach(1)	22	Renal(3;0.01)					GCTGGGTCGGGCTGGCCCTGG	0.527													3	35					0	0	1	0	0	A	122005806	G	A	122005806	2	1	292	1	0	0	0	0	0	0	0	1	15856	1194	42	2		2	TFCP2L1	2	122005806	Silent	SNP	G	TCGA-HT-8012-01A-11D-2395-08	19046044	122005806	121193567	5	28738											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-HT-8012-01A-11D-2395-08	TCGA-HT-8012-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1731d809-8fde-4539-82ab-4cdf461abb88	c2b420d7-bb63-411d-979d-d5b9bd30ebc3	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	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								27	37					0	0	1	0	0	T	209113112	C	T	209113112	3	4	292	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HT-8012-01A-11D-2395-08	87107306	209113112	34086261	6	28739											
CHRND	1144	broad.mit.edu	37	2	233393356	233393356	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8012-01A-11D-2395-08	TCGA-HT-8012-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1731d809-8fde-4539-82ab-4cdf461abb88	c2b420d7-bb63-411d-979d-d5b9bd30ebc3	g.chr2:233393356C>T	ENST00000258385.3	+	5	531	c.499C>T	c.(499-501)Ctc>Ttc	p.L167F	CHRND_ENST00000543200.1_Missense_Mutation_p.L152F|CHRND_ENST00000457943.2_Silent_p.P76P|CHRND_ENST00000536614.1_Missense_Mutation_p.L167F	NM_000751.2	NP_000742.1	Q07001	ACHD_HUMAN	cholinergic receptor, nicotinic, delta (muscle)	167					muscle contraction|musculoskeletal movement|neuromuscular process|skeletal muscle tissue growth|synaptic transmission	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)	34		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754)		GAACTGCTCCCTCAAGTTCAG	0.592													4	110					0	0	1	0	0	T	233393356	C	T	233393356	3	4	292	1	0	0	0	0	1	0	0	0	3416	681	24	2	517	2	CHRND	2	233393356	Missense_Mutation	SNP	C	TCGA-HT-8012-01A-11D-2395-08	24280244	233393356	9806017	7	28740											
NR3C2	4306	broad.mit.edu	37	4	149075976	149075976	+	Silent	SNP	T	T	G			TCGA-HT-8012-01A-11D-2395-08	TCGA-HT-8012-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1731d809-8fde-4539-82ab-4cdf461abb88	c2b420d7-bb63-411d-979d-d5b9bd30ebc3	g.chr4:149075976T>G	ENST00000355292.3	-	5	2465	c.2103A>C	c.(2101-2103)ccA>ccC	p.P701P	NR3C2_ENST00000503313.1_5'UTR|NR3C2_ENST00000344721.4_Silent_p.P697P|NR3C2_ENST00000358102.3_Silent_p.P697P|RP11-76G10.1_ENST00000514843.1_RNA|NR3C2_ENST00000512865.1_Intron|NR3C2_ENST00000511528.1_Silent_p.P701P			P08235	MCR_HUMAN	nuclear receptor subfamily 3, group C, member 2	697	Hinge.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	endoplasmic reticulum membrane|nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421)	ggggtgggggtgggggtgggg	0.527													4	14					0	0	1	0	0	G	149075976	T	G	149075976	2	3	292	1	0	0	0	0	0	0	0	1	10679	1683	59	5		5	NR3C2	4	149075976	Silent	SNP	T	TCGA-HT-8012-01A-11D-2395-08		149075976	42078300	8	28741											
PARK2	5071	broad.mit.edu	37	6	161781238	161781238	+	Splice_Site	SNP	C	C	T			TCGA-HT-8012-01A-11D-2395-08	TCGA-HT-8012-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1731d809-8fde-4539-82ab-4cdf461abb88	c2b420d7-bb63-411d-979d-d5b9bd30ebc3	g.chr6:161781238C>T	ENST00000366898.1	-	11	1270		c.e11-1		PARK2_ENST00000366894.1_Splice_Site|PARK2_ENST00000338468.3_Splice_Site|PARK2_ENST00000366896.1_Splice_Site|PARK2_ENST00000366897.1_Splice_Site	NM_004562.2	NP_004553.2	O60260	PRKN2_HUMAN	parkin RBR E3 ubiquitin protein ligase						aggresome assembly|central nervous system development|mitochondrion degradation|negative regulation of actin filament bundle assembly|negative regulation of cell death|negative regulation of protein phosphorylation|negative regulation of release of cytochrome c from mitochondria|neuron death|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein monoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of autophagy|regulation of reactive oxygen species metabolic process	aggresome|cytosol|endoplasmic reticulum|Golgi apparatus|mitochondrion|nucleus|perinuclear region of cytoplasm	chaperone binding|PDZ domain binding|protein kinase binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046)		CTCTGTAGGCCTGGGGAAACA	0.507													5	116					0	0	1	0	0	T	161781238	C	T	161781238	5	4	292	1	0	0	0	0	0	0	1	0	11496	695	24	2	238	2	PARK2	6	161781238	Splice_Site	SNP	C	TCGA-HT-8012-01A-11D-2395-08		161781238	9333829	9	28742											
PMPCB	9512	broad.mit.edu	37	7	102948108	102948109	+	Frame_Shift_Del	DEL	AA	AA	-	rs141254128		TCGA-HT-8012-01A-11D-2395-08	TCGA-HT-8012-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1731d809-8fde-4539-82ab-4cdf461abb88	c2b420d7-bb63-411d-979d-d5b9bd30ebc3	g.chr7:102948108_102948109delAA	ENST00000249269.4	+	7	840_841	c.802_803delAA	c.(802-804)aaafs	p.K268fs	PMPCB_ENST00000420236.2_Frame_Shift_Del_p.K163fs|PMPCB_ENST00000428154.1_Frame_Shift_Del_p.K268fs	NM_004279.2	NP_004270.2	O75439	MPPB_HUMAN	peptidase (mitochondrial processing) beta	268					proteolysis	mitochondrial matrix	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(9)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						ATGCACACACAAAGGAGAAATA	0.396													10	41	---	---	---	---						-	102948109	AA	-	102948108	7	5	292	1	0	1	0	1	0	0	0	0	12189	131	5	0	828	0	PMPCB	7	102948108	Frame_Shift_Del	DEL	AA	TCGA-HT-8012-01A-11D-2395-08		102948108	56190555	10	28743											
PTK2B	2185	broad.mit.edu	37	8	27310644	27310644	+	Silent	SNP	G	G	A			TCGA-HT-8012-01A-11D-2395-08	TCGA-HT-8012-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1731d809-8fde-4539-82ab-4cdf461abb88	c2b420d7-bb63-411d-979d-d5b9bd30ebc3	g.chr8:27310644G>A	ENST00000397501.1	+	33	3370	c.2562G>A	c.(2560-2562)ggG>ggA	p.G854G	PTK2B_ENST00000346049.5_Silent_p.G854G|PTK2B_ENST00000544172.1_Silent_p.G854G|PTK2B_ENST00000517339.1_Silent_p.G812G|PTK2B_ENST00000420218.2_Silent_p.G812G|PTK2B_ENST00000338238.4_Silent_p.G812G	NM_173174.2	NP_775266.1	Q14289	FAK2_HUMAN	protein tyrosine kinase 2 beta	854	Interaction with TGFB1I1 (By similarity).|Pro-rich.				apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Ovarian(32;2.72e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)		AGTTCACAGGGCCCCCACAGA	0.542													39	58					0	0	1	0	0	A	27310644	G	A	27310644	2	1	292	1	0	0	0	0	0	0	0	1	12813	1190	42	2		2	PTK2B	8	27310644	Silent	SNP	G	TCGA-HT-8012-01A-11D-2395-08		27310644	119053378	11	28744											
PCSK5	5125	broad.mit.edu	37	9	78790119	78790119	+	Silent	SNP	A	A	G			TCGA-HT-8012-01A-11D-2395-08	TCGA-HT-8012-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1731d809-8fde-4539-82ab-4cdf461abb88	c2b420d7-bb63-411d-979d-d5b9bd30ebc3	g.chr9:78790119A>G	ENST00000376767.3	+	14	2486	c.1974A>G	c.(1972-1974)agA>agG	p.R658R	PCSK5_ENST00000376752.4_Intron|PCSK5_ENST00000545128.1_Intron			Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	0	CRM (Cys-rich motif).				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						GGGAgaacagaatggaatgga	0.443													15	22					0	0	1	0	0	G	78790119	A	G	78790119	2	3	292	1	0	0	0	0	0	0	0	1	11650	261	9	3		3	PCSK5	9	78790119	Silent	SNP	A	TCGA-HT-8012-01A-11D-2395-08		78790119	62423312	12	28745											
NOTCH1	4851	broad.mit.edu	37	9	139413070	139413072	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-HT-8012-01A-11D-2395-08	TCGA-HT-8012-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1731d809-8fde-4539-82ab-4cdf461abb88	c2b420d7-bb63-411d-979d-d5b9bd30ebc3	g.chr9:139413070_139413072delAGA	ENST00000277541.6	-	6	1145_1147	c.1070_1072delTCT	c.(1069-1074)ttctac>tac	p.F357del		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	357	EGF-like 9; calcium-binding (Potential).				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	p.F357delF(4)		breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CACTCGCAGTAGAAGGAGGCCAC	0.655			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			8	43	---	---	---	---						-	139413072	AGA	-	139413070	7	5	292	1	0	1	0	1	0	0	0	0	10594	420	15	0	6711	0	NOTCH1	9	139413070	In_Frame_Del	DEL	AGA	TCGA-HT-8012-01A-11D-2395-08	60622951	139413070	1800361	13	28746											
DLG5	9231	broad.mit.edu	37	10	79601943	79601943	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8012-01A-11D-2395-08	TCGA-HT-8012-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1731d809-8fde-4539-82ab-4cdf461abb88	c2b420d7-bb63-411d-979d-d5b9bd30ebc3	g.chr10:79601943G>A	ENST00000372391.2	-	7	1138	c.1133C>T	c.(1132-1134)gCg>gTg	p.A378V	DLG5_ENST00000372388.2_Missense_Mutation_p.A378V	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	378					cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			ATGGTGGATCGCCTCAAACCT	0.652													53	60					0	0	1	0	0	A	79601943	G	A	79601943	3	1	292	1	0	0	0	0	1	0	0	0	4586	1087	38	1	4730	1	DLG5	10	79601943	Missense_Mutation	SNP	G	TCGA-HT-8012-01A-11D-2395-08		79601943	55932804	14	28747											
MUC5B	727897	broad.mit.edu	37	11	1264405	1264405	+	Missense_Mutation	SNP	A	A	C			TCGA-HT-8012-01A-11D-2395-08	TCGA-HT-8012-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1731d809-8fde-4539-82ab-4cdf461abb88	c2b420d7-bb63-411d-979d-d5b9bd30ebc3	g.chr11:1264405A>C	ENST00000447027.1	+	31	6362	c.6304A>C	c.(6304-6306)Acc>Ccc	p.T2102P	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000529681.1_Missense_Mutation_p.T2099P			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	2099	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.			A -> P (in Ref. 4; CAA96577).	cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CCCGGGGACCACCCACACCGC	0.632													12	19					0	0	1	0	0	C	1264405	A	C	1264405	3	2	292	1	0	0	0	0	1	0	0	0	10027	159	6	5	6426	5	MUC5B	11	1264405	Missense_Mutation	SNP	A	TCGA-HT-8012-01A-11D-2395-08		1264405	133742111	15	28748											
IGF2	3481	broad.mit.edu	37	11	2154242	2154242	+	Frame_Shift_Del	DEL	G	G	-	rs1050342		TCGA-HT-8012-01A-11D-2395-08	TCGA-HT-8012-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1731d809-8fde-4539-82ab-4cdf461abb88	c2b420d7-bb63-411d-979d-d5b9bd30ebc3	g.chr11:2154242delG	ENST00000416167.2	-	4	1684	c.518delC	c.(517-519)ccafs	p.P173fs	IGF2_ENST00000381406.4_Frame_Shift_Del_p.P176fs|IGF2_ENST00000381392.1_Frame_Shift_Del_p.P176fs|IGF2_ENST00000381395.1_Frame_Shift_Del_p.P173fs|IGF2_ENST00000434045.2_Frame_Shift_Del_p.P229fs|IGF2_ENST00000300632.5_Frame_Shift_Del_p.P173fs|IGF2_ENST00000381389.1_Frame_Shift_Del_p.P173fs|IGF2_ENST00000418738.2_Frame_Shift_Del_p.P173fs			P01344	IGF2_HUMAN	insulin-like growth factor 2 (somatomedin A)	173			P -> Q (in dbSNP:rs1050342).		glucose metabolic process|ossification|phosphatidylinositol 3-kinase cascade involved in insulin receptor signaling|positive regulation of activated T cell proliferation|positive regulation of cell division|positive regulation of glycogen (starch) synthase activity|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|skeletal system development	extracellular space	growth factor activity|hormone activity|insulin receptor binding|insulin-like growth factor receptor binding|protein serine/threonine kinase activator activity|receptor activator activity			central_nervous_system(1)|kidney(1)|lung(1)|pancreas(1)|skin(1)|urinary_tract(1)	6		all_epithelial(84;5.04e-06)|Breast(177;0.000777)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)	Colorectal(5;0.0179)|COAD - Colon adenocarcinoma(6;0.029)	BRCA - Breast invasive adenocarcinoma(625;1.09e-05)|LUSC - Lung squamous cell carcinoma(625;0.082)|Lung(200;0.153)		GGCCATCTCTGGGGGGGCGCC	0.657													7	298	---	---	---	---						-	2154242	G	-	2154242	7	5	292	1	0	1	0	1	0	0	0	0	7616	1348	47	0	28	0	IGF2	11	2154242	Frame_Shift_Del	DEL	G	TCGA-HT-8012-01A-11D-2395-08	889837	2154242	132852274	16	28749											
OR1S2	219958	broad.mit.edu	37	11	57970843	57970843	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8012-01A-11D-2395-08	TCGA-HT-8012-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1731d809-8fde-4539-82ab-4cdf461abb88	c2b420d7-bb63-411d-979d-d5b9bd30ebc3	g.chr11:57970843C>T	ENST00000302592.6	-	1	810	c.811G>A	c.(811-813)Gtg>Atg	p.V271M		NM_001004459.1	NP_001004459.1	Q8NGQ3	OR1S2_HUMAN	olfactory receptor, family 1, subfamily S, member 2	271					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(11)|kidney(1)|large_intestine(4)|lung(23)|ovary(2)|skin(2)|stomach(2)|urinary_tract(1)	46		Breast(21;0.0589)				AAAAAGTACACGCCTACAGTG	0.498													4	94					0	0	1	0	0	T	57970843	C	T	57970843	3	4	292	1	0	0	0	0	1	0	0	0	11021	536	19	1	169	1	OR1S2	11	57970843	Missense_Mutation	SNP	C	TCGA-HT-8012-01A-11D-2395-08	55816601	57970843	77035673	17	28750											
B4GALNT3	283358	broad.mit.edu	37	12	657235	657235	+	Missense_Mutation	SNP	G	G	C			TCGA-HT-8012-01A-11D-2395-08	TCGA-HT-8012-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1731d809-8fde-4539-82ab-4cdf461abb88	c2b420d7-bb63-411d-979d-d5b9bd30ebc3	g.chr12:657235G>C	ENST00000266383.5	+	8	766	c.753G>C	c.(751-753)caG>caC	p.Q251H	B4GALNT3_ENST00000544638.1_3'UTR	NM_173593.3	NP_775864.3	Q6L9W6	B4GN3_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 3	251						Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)			TGCACAAGCAGAATGAGGAGG	0.622													20	29					0	0	1	0	0	C	657235	G	C	657235	3	2	292	1	0	0	0	0	1	0	0	0	1266	933	33	4	783	4	B4GALNT3	12	657235	Missense_Mutation	SNP	G	TCGA-HT-8012-01A-11D-2395-08		657235	133194660	18	28751											
B4GALNT3	283358	broad.mit.edu	37	12	665815	665815	+	Silent	SNP	C	C	T	rs150429681	byFrequency	TCGA-HT-8012-01A-11D-2395-08	TCGA-HT-8012-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1731d809-8fde-4539-82ab-4cdf461abb88	c2b420d7-bb63-411d-979d-d5b9bd30ebc3	g.chr12:665815C>T	ENST00000266383.5	+	15	2176	c.2163C>T	c.(2161-2163)cgC>cgT	p.R721R		NM_173593.3	NP_775864.3	Q6L9W6	B4GN3_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 3	721						Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)			AAGGCCAGCGCGTGGTGCGGC	0.622													38	55					0	0	1	0	0	T	665815	C	T	665815	2	4	292	1	0	0	0	0	0	0	0	1	1266	755	27	1		1	B4GALNT3	12	665815	Silent	SNP	C	TCGA-HT-8012-01A-11D-2395-08	8580	665815	133186080	19	28752											
RNF17	56163	broad.mit.edu	37	13	25399896	25399896	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8012-01A-11D-2395-08	TCGA-HT-8012-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1731d809-8fde-4539-82ab-4cdf461abb88	c2b420d7-bb63-411d-979d-d5b9bd30ebc3	g.chr13:25399896G>A	ENST00000255324.5	+	16	2283	c.2231G>A	c.(2230-2232)cGa>cAa	p.R744Q	RNF17_ENST00000381921.1_Missense_Mutation_p.R744Q	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	744	Tudor 1.				multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		ATTTGGTACCGAGCAAAAGTT	0.378													17	81					0	0	1	0	0	A	25399896	G	A	25399896	3	1	292	1	0	0	0	0	1	0	0	0	13513	1058	37	1	2293	1	RNF17	13	25399896	Missense_Mutation	SNP	G	TCGA-HT-8012-01A-11D-2395-08		25399896	89769982	20	28753											
BEGAIN	57596	broad.mit.edu	37	14	101005290	101005290	+	Silent	SNP	C	C	T			TCGA-HT-8012-01A-11D-2395-08	TCGA-HT-8012-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1731d809-8fde-4539-82ab-4cdf461abb88	c2b420d7-bb63-411d-979d-d5b9bd30ebc3	g.chr14:101005290C>T	ENST00000556751.1	-	5	4010	c.606G>A	c.(604-606)gcG>gcA	p.A202A	BEGAIN_ENST00000443071.2_Silent_p.A266A|BEGAIN_ENST00000355173.2_Silent_p.A266A|CTD-2062F14.3_ENST00000553301.1_lincRNA			Q9BUH8	BEGIN_HUMAN	brain-enriched guanylate kinase-associated	266						cytoplasm|membrane	protein binding			cervix(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|stomach(1)	14		Melanoma(154;0.212)				CCTCCTCGGCCGCGCTGTCAG	0.726													11	27					0	0	1	0	0	T	101005290	C	T	101005290	2	4	292	1	0	0	0	0	0	0	0	1	1395	639	23	1		1	BEGAIN	14	101005290	Silent	SNP	C	TCGA-HT-8012-01A-11D-2395-08		101005290	6344250	21	28754											
POLR3K	51728	broad.mit.edu	37	16	97470	97470	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-8012-01A-11D-2395-08	TCGA-HT-8012-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1731d809-8fde-4539-82ab-4cdf461abb88	c2b420d7-bb63-411d-979d-d5b9bd30ebc3	g.chr16:97470T>C	ENST00000293860.5	-	3	328	c.287A>G	c.(286-288)aAg>aGg	p.K96R		NM_016310.3	NP_057394.2	Q9Y2Y1	RPC10_HUMAN	polymerase (RNA) III (DNA directed) polypeptide K, 12.3 kDa	96					innate immune response|response to virus|transcription from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity|zinc ion binding			central_nervous_system(1)|large_intestine(1)|skin(1)	3		all_cancers(16;9.01e-08)|all_epithelial(16;7.64e-07)|Hepatocellular(780;0.000325)|Lung NSC(18;0.0104)|all_lung(18;0.0239)				ATTGCAGCACTTGTAGAAGGT	0.557													44	61					0	0	1	0	0	C	97470	T	C	97470	3	2	292	1	0	0	0	0	1	0	0	0	12285	1609	56	3	43	3	POLR3K	16	97470	Missense_Mutation	SNP	T	TCGA-HT-8012-01A-11D-2395-08		97470	90257283	22	28755											
WWOX	51741	broad.mit.edu	37	16	78458905	78458905	+	Silent	SNP	C	C	T			TCGA-HT-8012-01A-11D-2395-08	TCGA-HT-8012-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1731d809-8fde-4539-82ab-4cdf461abb88	c2b420d7-bb63-411d-979d-d5b9bd30ebc3	g.chr16:78458905C>T	ENST00000566780.1	+	7	1110	c.744C>T	c.(742-744)tgC>tgT	p.C248C	WWOX_ENST00000408984.3_Silent_p.C248C|WWOX_ENST00000406884.2_Intron|WWOX_ENST00000539474.2_Intron|WWOX_ENST00000402655.2_Intron	NM_016373.2	NP_057457.1	Q9NZC7	WWOX_HUMAN	WW domain containing oxidoreductase	248	Interaction with MAPT (By similarity).|Mediates targeting to the mitochondria (By similarity).				apoptosis|negative regulation of Wnt receptor signaling pathway|steroid metabolic process|Wnt receptor signaling pathway	Golgi apparatus|mitochondrion|nucleus	coenzyme binding|oxidoreductase activity|protein dimerization activity	p.C248C(1)|p.A91V(1)		large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	7		all_cancers(2;1.97e-181)|all_epithelial(2;3.85e-160)|all_lung(2;2.03e-39)|Lung NSC(2;7.16e-35)|Colorectal(2;6.96e-21)|all_hematologic(2;1.13e-16)|Melanoma(2;5.16e-06)|all_neural(2;8.84e-06)|Renal(2;5.26e-05)|Medulloblastoma(2;0.00498)|Breast(2;0.00631)|Lung SC(2;0.0261)|Prostate(104;0.167)		UCEC - Uterine corpus endometrioid carcinoma (2;0.012)|Epithelial(1;2.65e-39)|all cancers(1;3.26e-34)|STAD - Stomach adenocarcinoma(1;5.1e-20)|COAD - Colon adenocarcinoma(1;1.04e-11)|Colorectal(1;3.4e-11)|OV - Ovarian serous cystadenocarcinoma(1;1.01e-10)|BRCA - Breast invasive adenocarcinoma(1;0.00196)|Kidney(780;0.232)		ATGTTTTGTGCCGCTCAGCTC	0.507													5	181					0	0	1	0	0	T	78458905	C	T	78458905	2	4	292	1	0	0	0	0	0	0	0	1	17474	747	26	2		2	WWOX	16	78458905	Silent	SNP	C	TCGA-HT-8012-01A-11D-2395-08	78361435	78458905	11895848	23	28756											
GEMIN4	50628	broad.mit.edu	37	17	650531	650531	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8012-01A-11D-2395-08	TCGA-HT-8012-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1731d809-8fde-4539-82ab-4cdf461abb88	c2b420d7-bb63-411d-979d-d5b9bd30ebc3	g.chr17:650531G>A	ENST00000576778.1	-	1	2060	c.719C>T	c.(718-720)gCg>gTg	p.A240V	GEMIN4_ENST00000319004.5_Missense_Mutation_p.A251V|GEMIN4_ENST00000437269.1_Intron			P57678	GEMI4_HUMAN	gem (nuclear organelle) associated protein 4	251					rRNA processing|spliceosomal snRNP assembly	Cajal body|cytosol|nucleolus|small nuclear ribonucleoprotein complex|spliceosomal complex	protein binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		Myeloproliferative disorder(207;0.204)		UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		CTCTGTCAGCGCAAACACAGT	0.607													6	195					0	0	1	0	0	A	650531	G	A	650531	3	1	292	1	0	0	0	0	1	0	0	0	6372	1087	38	1	2428	1	GEMIN4	17	650531	Missense_Mutation	SNP	G	TCGA-HT-8012-01A-11D-2395-08		650531	80544679	24	28757											
FASN	2194	broad.mit.edu	37	17	80051592	80051592	+	Silent	SNP	G	G	A			TCGA-HT-8012-01A-11D-2395-08	TCGA-HT-8012-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1731d809-8fde-4539-82ab-4cdf461abb88	c2b420d7-bb63-411d-979d-d5b9bd30ebc3	g.chr17:80051592G>A	ENST00000306749.2	-	4	554	c.336C>T	c.(334-336)agC>agT	p.S112S		NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	112	Beta-ketoacyl synthase (By similarity).				energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	cytosol|Golgi apparatus|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)	TCTCAGAGCCGCTCACGCCCA	0.657													36	59					0	0	1	0	0	A	80051592	G	A	80051592	2	1	292	1	0	0	0	0	0	0	0	1	5716	1078	38	1		1	FASN	17	80051592	Silent	SNP	G	TCGA-HT-8012-01A-11D-2395-08	79401061	80051592	1143618	25	28758											
CIC	23152	broad.mit.edu	37	19	42791207	42791208	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-HT-8012-01A-11D-2395-08	TCGA-HT-8012-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1731d809-8fde-4539-82ab-4cdf461abb88	c2b420d7-bb63-411d-979d-d5b9bd30ebc3	g.chr19:42791207_42791208delAG	ENST00000572681.2	+	4	3062_3063	c.2994_2995delAG	c.(2992-2997)acagggfs	p.G999fs	CIC_ENST00000575354.2_Frame_Shift_Del_p.G90fs|CIC_ENST00000160740.3_Frame_Shift_Del_p.G90fs			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	90	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CAGGTGGGACAGGGAGTGCTGA	0.649			"Mis, F, S"		oligodendroglioma								8	102	---	---	---	---						-	42791208	AG	-	42791207	7	5	292	1	0	1	0	1	0	0	0	0	3446	175	7	0	277	0	CIC	19	42791207	Frame_Shift_Del	DEL	AG	TCGA-HT-8012-01A-11D-2395-08		42791207	16337776	26	28759			1	31		3	3	5348	N	TG_CAGT_AG	1.92488e-05
CIC	23152	broad.mit.edu	37	19	42793215	42793218	+	Frame_Shift_Del	DEL	CAGT	CAGT	-			TCGA-HT-8012-01A-11D-2395-08	TCGA-HT-8012-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1731d809-8fde-4539-82ab-4cdf461abb88	c2b420d7-bb63-411d-979d-d5b9bd30ebc3	g.chr19:42793215_42793218delCAGT	ENST00000572681.2	+	8	3902_3905	c.3834_3837delCAGT	c.(3832-3837)gacagtfs	p.DS1278fs	CIC_ENST00000575354.2_Frame_Shift_Del_p.DS369fs|CIC_ENST00000160740.3_Frame_Shift_Del_p.DS369fs			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	369	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				GAGAAGTAGACAGTCAGGCGCTAC	0.667			"Mis, F, S"		oligodendroglioma								28	59	---	---	---	---						-	42793218	CAGT	-	42793215	7	5	292	1	0	1	0	1	0	0	0	0	3446	477	17	0	1133	0	CIC	19	42793215	Frame_Shift_Del	DEL	CAGT	TCGA-HT-8012-01A-11D-2395-08	2008	42793215	16335768	27	28760			1	31		3	3	5348	N	TG_CAGT_AG	1.92488e-05
CIC	23152	broad.mit.edu	37	19	42796554	42796555	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-HT-8012-01A-11D-2395-08	TCGA-HT-8012-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1731d809-8fde-4539-82ab-4cdf461abb88	c2b420d7-bb63-411d-979d-d5b9bd30ebc3	g.chr19:42796554_42796555delTG	ENST00000572681.2	+	14	5906_5907	c.5838_5839delTG	c.(5836-5841)tctgtafs	p.V1947fs	CIC_ENST00000575354.2_Frame_Shift_Del_p.V1038fs|CIC_ENST00000160740.3_Frame_Shift_Del_p.V1038fs			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	1038					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CCACGAGCTCTGTAGCTCTAGG	0.703			"Mis, F, S"		oligodendroglioma								11	46	---	---	---	---						-	42796555	TG	-	42796554	7	5	292	1	0	1	0	1	0	0	0	0	3446	1567	55	0	3161	0	CIC	19	42796554	Frame_Shift_Del	DEL	TG	TCGA-HT-8012-01A-11D-2395-08	3339	42796554	16332429	28	28761			1	31		3	3	5348	N	TG_CAGT_AG	1.92488e-05
MYH7B	57644	broad.mit.edu	37	20	33583356	33583358	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-HT-8012-01A-11D-2395-08	TCGA-HT-8012-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1731d809-8fde-4539-82ab-4cdf461abb88	c2b420d7-bb63-411d-979d-d5b9bd30ebc3	g.chr20:33583356_33583358delAGG	ENST00000262873.7	+	26	3136_3138	c.3044_3046delAGG	c.(3043-3048)aaggag>aag	p.E1016del		NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	974						membrane|myosin filament	actin binding|ATP binding|motor activity			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			AAAGCTGAGAAGGAGAAGCAAGC	0.645													19	29	---	---	---	---						-	33583358	AGG	-	33583356	7	5	292	1	0	1	0	1	0	0	0	0	10088	72	3	0	3146	0	MYH7B	20	33583356	In_Frame_Del	DEL	AGG	TCGA-HT-8012-01A-11D-2395-08		33583356	29442164	29	28762											
EYA2	2139	broad.mit.edu	37	20	45644820	45644820	+	Splice_Site	SNP	G	G	A			TCGA-HT-8012-01A-11D-2395-08	TCGA-HT-8012-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1731d809-8fde-4539-82ab-4cdf461abb88	c2b420d7-bb63-411d-979d-d5b9bd30ebc3	g.chr20:45644820G>A	ENST00000327619.5	+	5	673	c.299G>A	c.(298-300)aGc>aAc	p.S100N	EYA2_ENST00000317304.6_Splice_Site_p.S100N|EYA2_ENST00000357410.3_Splice_Site_p.S100N	NM_005244.4	NP_005235.3	O00167	EYA2_HUMAN	eyes absent homolog 2 (Drosophila)	100					DNA repair|histone dephosphorylation|mesodermal cell fate specification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	magnesium ion binding|protein binding|protein tyrosine phosphatase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0241)				TCCTTCAAAGGCATCAAGACA	0.507													6	156					0	0	1	0	0	A	45644820	G	A	45644820	5	1	292	1	0	0	0	0	0	0	1	0	5357	1217	42	2	313	2	EYA2	20	45644820	Splice_Site	SNP	G	TCGA-HT-8012-01A-11D-2395-08	12061464	45644820	17380700	30	28763											
BAGE2	85319	broad.mit.edu	37	21	11058183	11058183	+	RNA	SNP	G	G	A			TCGA-HT-8012-01A-11D-2395-08	TCGA-HT-8012-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1731d809-8fde-4539-82ab-4cdf461abb88	c2b420d7-bb63-411d-979d-d5b9bd30ebc3	g.chr21:11058183G>A	ENST00000470054.1	-	0	464									B melanoma antigen family, member 2															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)		CTTGGTCAATGTGTTCTGGAC	0.398													4	91					0	0	1	0	0	A	11058183	G	A	11058183	1	1	292	0	1	0	0	0	0	0	0	0	1290	1377	48	2		2	BAGE2	21	11058183	RNA	SNP	G	TCGA-HT-8012-01A-11D-2395-08		11058183	37071712	31	28764											
ARR3	407	broad.mit.edu	37	X	69500075	69500075	+	Silent	SNP	G	G	T			TCGA-HT-8012-01A-11D-2395-08	TCGA-HT-8012-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1731d809-8fde-4539-82ab-4cdf461abb88	c2b420d7-bb63-411d-979d-d5b9bd30ebc3	g.chrX:69500075G>T	ENST00000374495.3	+	13	1034	c.936G>T	c.(934-936)ctG>ctT	p.L312L	ARR3_ENST00000307959.8_Silent_p.L312L			P36575	ARRC_HUMAN	arrestin 3, retinal (X-arrestin)	312					signal transduction|visual perception	cytoplasm|soluble fraction				endometrium(3)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)	16						AAGAGCTGCTGGGGATCCTGG	0.502													51	79					2.84144e-21	3.11205e-21	1	1	0	T	69500075	G	T	69500075	2	4	292	1	0	0	0	0	0	0	0	1	978	1335	47	5		5	ARR3	23	69500075	Silent	SNP	G	TCGA-HT-8012-01A-11D-2395-08		69500075	85770485	32	28765											
TAF1	6872	broad.mit.edu	37	X	70679529	70679529	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-8012-01A-11D-2395-08	TCGA-HT-8012-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1731d809-8fde-4539-82ab-4cdf461abb88	c2b420d7-bb63-411d-979d-d5b9bd30ebc3	g.chrX:70679529G>T	ENST00000449580.1	+	37	5342	c.5291G>T	c.(5290-5292)aGt>aTt	p.S1764I	TAF1_ENST00000461764.1_3'UTR|TAF1_ENST00000276072.3_Missense_Mutation_p.S1751I|TAF1_ENST00000423759.1_Missense_Mutation_p.S1753I|TAF1_ENST00000373790.4_Missense_Mutation_p.S1730I			P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	1730	Asp/Glu-rich (acidic tail).|Protein kinase 2.				G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				GATGCTGGGAGTGATGAAGAA	0.468													5	124					0.00116845	0.00122156	1	1	0	T	70679529	G	T	70679529	3	4	292	1	0	0	0	0	1	0	0	0	15570	1029	36	4	5394	4	TAF1	23	70679529	Missense_Mutation	SNP	G	TCGA-HT-8012-01A-11D-2395-08	1179454	70679529	84591031	33	28766											
DOCK11	139818	broad.mit.edu	37	X	117752578	117752578	+	Missense_Mutation	SNP	C	C	A			TCGA-HT-8012-01A-11D-2395-08	TCGA-HT-8012-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1731d809-8fde-4539-82ab-4cdf461abb88	c2b420d7-bb63-411d-979d-d5b9bd30ebc3	g.chrX:117752578C>A	ENST00000276204.6	+	31	3432	c.3358C>A	c.(3358-3360)Ctg>Atg	p.L1120M	DOCK11_ENST00000276202.7_Missense_Mutation_p.L1120M			Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	1120					blood coagulation	cytosol	GTP binding			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						TGGTCTACTTCTGAGGGAAAC	0.333													4	101					0.00909568	0.00929781	1	1	0	A	117752578	C	A	117752578	3	1	292	1	0	0	0	0	1	0	0	0	4713	912	32	4	3480	4	DOCK11	23	117752578	Missense_Mutation	SNP	C	TCGA-HT-8012-01A-11D-2395-08	47073049	117752578	37517982	34	28767											
MAGEA10	4109	broad.mit.edu	37	X	151303906	151303908	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-HT-8012-01A-11D-2395-08	TCGA-HT-8012-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1731d809-8fde-4539-82ab-4cdf461abb88	c2b420d7-bb63-411d-979d-d5b9bd30ebc3	g.chrX:151303906_151303908delAGG	ENST00000370323.4	-	4	501_503	c.185_187delCCT	c.(184-189)tcctgc>tgc	p.S62del	MAGEA10_ENST00000244096.3_In_Frame_Del_p.S62del|RP11-1007I13.4_ENST00000509345.2_RNA	NM_001251828.1|NM_021048.4	NP_001238757.1|NP_066386	P43363	MAGAA_HUMAN	melanoma antigen family A, 10	62	Poly-Ser.									endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					AGAGGATAGCaggaggaggagga	0.562													7	193	---	---	---	---						-	151303908	AGG	-	151303906	7	5	292	1	0	1	0	1	0	0	0	0	9210	188	7	0	926	0	MAGEA10	23	151303906	In_Frame_Del	DEL	AGG	TCGA-HT-8012-01A-11D-2395-08	33551328	151303906	3966654	35	28768											
CTAG2	30848	broad.mit.edu	37	X	153881577	153881577	+	Silent	SNP	C	C	T	rs140132753		TCGA-HT-8012-01A-11D-2395-08	TCGA-HT-8012-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1731d809-8fde-4539-82ab-4cdf461abb88	c2b420d7-bb63-411d-979d-d5b9bd30ebc3	g.chrX:153881577C>T	ENST00000247306.4	-	1	276	c.213G>A	c.(211-213)gcG>gcA	p.A71A	CTAG2_ENST00000369585.3_Silent_p.A71A	NM_020994.3	NP_066274.2	O75638	CTAG2_HUMAN	cancer/testis antigen 2	71	Gly-rich.					centrosome				central_nervous_system(1)|endometrium(1)|lung(6)|ovary(1)|pancreas(1)	10	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TTCCATCCTGCGCAGAAGCGG	0.711													19	57					0	0	1	0	0	T	153881577	C	T	153881577	2	4	292	1	0	0	0	0	0	0	0	1	4016	755	27	1		1	CTAG2	23	153881577	Silent	SNP	C	TCGA-HT-8012-01A-11D-2395-08	2577671	153881577	1388983	36	28769											
KANK4	163782	broad.mit.edu	37	1	62728946	62728946	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8013-01A-11D-2395-08	TCGA-HT-8013-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	590efe82-cb5a-4e5e-943c-a8ebb1033776	da88f82c-7da0-4aec-97b0-11132dfb0ebb	g.chr1:62728946C>T	ENST00000371153.4	-	7	2735	c.2357G>A	c.(2356-2358)cGc>cAc	p.R786H	KANK4_ENST00000317477.4_5'UTR|KANK4_ENST00000354381.3_Missense_Mutation_p.R158H|KANK4_ENST00000371150.1_Missense_Mutation_p.R142H	NM_181712.4	NP_859063.3	Q5T7N3	KANK4_HUMAN	KN motif and ankyrin repeat domains 4	786				R -> H (in Ref. 1; BAC03774).						NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						GCTGGAGACGCGGAACCACTC	0.562													17	13					0	0	1	0	0	T	62728946	C	T	62728946	3	4	293	1	0	0	0	0	1	0	0	0	8023	768	27	1	646	1	KANK4	1	62728946	Missense_Mutation	SNP	C	TCGA-HT-8013-01A-11D-2395-08		62728946	186521675	1	28770											
RYR2	6262	broad.mit.edu	37	1	237730050	237730050	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8013-01A-11D-2395-08	TCGA-HT-8013-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	590efe82-cb5a-4e5e-943c-a8ebb1033776	da88f82c-7da0-4aec-97b0-11132dfb0ebb	g.chr1:237730050G>A	ENST00000366574.2	+	28	3715	c.3398G>A	c.(3397-3399)cGt>cAt	p.R1133H	RYR2_ENST00000542537.1_Missense_Mutation_p.R1117H|RYR2_ENST00000360064.6_Missense_Mutation_p.R1131H	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1133	4 X approximate repeats.|B30.2/SPRY 2.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TCAGATGAACGTGCCTTTGCC	0.527													88	126					0	0	1	0	0	A	237730050	G	A	237730050	3	1	293	1	0	0	0	0	1	0	0	0	13821	1145	40	1	3508	1	RYR2	1	237730050	Missense_Mutation	SNP	G	TCGA-HT-8013-01A-11D-2395-08	175001104	237730050	11520571	2	28771											
TTN	7273	broad.mit.edu	37	2	179443923	179443923	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8013-01A-11D-2395-08	TCGA-HT-8013-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	590efe82-cb5a-4e5e-943c-a8ebb1033776	da88f82c-7da0-4aec-97b0-11132dfb0ebb	g.chr2:179443923C>T	ENST00000589042.1	-	320	68058	c.67834G>A	c.(67834-67836)Gat>Aat	p.D22612N	TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D13739N|TTN_ENST00000591111.1_Missense_Mutation_p.D20971N|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D13672N|RP11-171I2.2_ENST00000603521.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D13547N|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D20044N|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	20971	Fibronectin type-III 64.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTTGGCAATCGTACACTATA	0.443													38	50					0	0	1	0	0	T	179443923	C	T	179443923	3	4	293	1	0	0	0	0	1	0	0	0	16797	884	31	1	40317	1	TTN	2	179443923	Missense_Mutation	SNP	C	TCGA-HT-8013-01A-11D-2395-08		179443923	63755450	3	28772											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-HT-8013-01A-11D-2395-08	TCGA-HT-8013-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	590efe82-cb5a-4e5e-943c-a8ebb1033776	da88f82c-7da0-4aec-97b0-11132dfb0ebb	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	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								30	33					0	0	1	0	0	T	209113112	C	T	209113112	3	4	293	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HT-8013-01A-11D-2395-08	29669189	209113112	34086261	4	28773											
ZCWPW2	152098	broad.mit.edu	37	3	28566121	28566121	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8013-01A-11D-2395-08	TCGA-HT-8013-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	590efe82-cb5a-4e5e-943c-a8ebb1033776	da88f82c-7da0-4aec-97b0-11132dfb0ebb	g.chr3:28566121G>A	ENST00000383768.2	+	10	1201	c.1013G>A	c.(1012-1014)tGt>tAt	p.C338Y	ZCWPW2_ENST00000421010.1_Missense_Mutation_p.C338Y			Q504Y3	ZCPW2_HUMAN	zinc finger, CW type with PWWP domain 2	338							zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(6)|ovary(2)	17						GCTGGAGAATGTATTGAGGAT	0.303													8	56					0	0	1	0	0	A	28566121	G	A	28566121	3	1	293	1	0	0	0	0	1	0	0	0	17656	1377	48	2	1043	2	ZCWPW2	3	28566121	Missense_Mutation	SNP	G	TCGA-HT-8013-01A-11D-2395-08		28566121	169456309	5	28774											
TKT	7086	broad.mit.edu	37	3	53276168	53276168	+	Silent	SNP	C	C	T			TCGA-HT-8013-01A-11D-2395-08	TCGA-HT-8013-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	590efe82-cb5a-4e5e-943c-a8ebb1033776	da88f82c-7da0-4aec-97b0-11132dfb0ebb	g.chr3:53276168C>T	ENST00000462138.1	-	2	286	c.198G>A	c.(196-198)ccG>ccA	p.P66P	TKT_ENST00000296289.6_Silent_p.P19P|TKT_ENST00000423525.2_Silent_p.P66P|TKT_ENST00000423516.1_Silent_p.P66P			P29401	TKT_HUMAN	transketolase	66					energy reserve metabolic process|xylulose biosynthetic process	cytosol	protein binding|transketolase activity			endometrium(5)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17		Prostate(884;0.0959)		BRCA - Breast invasive adenocarcinoma(193;0.000159)|OV - Ovarian serous cystadenocarcinoma(275;0.000314)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)	Thiamine(DB00152)	GGTCATTGTGCGGATTCCGGG	0.617													4	103					0	0	1	0	0	T	53276168	C	T	53276168	2	4	293	1	0	0	0	0	0	0	0	1	15994	755	27	1		1	TKT	3	53276168	Silent	SNP	C	TCGA-HT-8013-01A-11D-2395-08	24710047	53276168	144746262	6	28775											
POLQ	10721	broad.mit.edu	37	3	121158888	121158888	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8013-01A-11D-2395-08	TCGA-HT-8013-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	590efe82-cb5a-4e5e-943c-a8ebb1033776	da88f82c-7da0-4aec-97b0-11132dfb0ebb	g.chr3:121158888C>T	ENST00000264233.5	-	27	7468	c.7340G>A	c.(7339-7341)cGt>cAt	p.R2447H		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	2447					DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		CAAATATCTACGCCTTCCCAA	0.328								DNA polymerases (catalytic subunits)					19	32					0	0	1	0	0	T	121158888	C	T	121158888	3	4	293	1	0	0	0	0	1	0	0	0	12256	536	19	1	448	1	POLQ	3	121158888	Missense_Mutation	SNP	C	TCGA-HT-8013-01A-11D-2395-08	67882720	121158888	76863542	7	28776											
ESYT3	83850	broad.mit.edu	37	3	138192428	138192428	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8013-01A-11D-2395-08	TCGA-HT-8013-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	590efe82-cb5a-4e5e-943c-a8ebb1033776	da88f82c-7da0-4aec-97b0-11132dfb0ebb	g.chr3:138192428G>A	ENST00000389567.4	+	19	2474	c.2288G>A	c.(2287-2289)cGc>cAc	p.R763H	ESYT3_ENST00000460133.1_3'UTR	NM_031913.3	NP_114119.2	A0FGR9	ESYT3_HUMAN	extended synaptotagmin-like protein 3	763	C2 3.					integral to membrane|plasma membrane				breast(1)|endometrium(5)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	25						CTCACAGTGCGCTATGTGTGT	0.562													62	93					0	0	1	0	0	A	138192428	G	A	138192428	3	1	293	1	0	0	0	0	1	0	0	0	5294	1087	38	1	2362	1	ESYT3	3	138192428	Missense_Mutation	SNP	G	TCGA-HT-8013-01A-11D-2395-08	17033540	138192428	59830002	8	28777											
GLP1R	2740	broad.mit.edu	37	6	39046913	39046913	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-8013-01A-11D-2395-08	TCGA-HT-8013-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	590efe82-cb5a-4e5e-943c-a8ebb1033776	da88f82c-7da0-4aec-97b0-11132dfb0ebb	g.chr6:39046913T>C	ENST00000373256.4	+	10	1023	c.980T>C	c.(979-981)gTc>gCc	p.V327A		NM_002062.3	NP_002053.3	P43220	GLP1R_HUMAN	glucagon-like peptide 1 receptor	327					activation of adenylate cyclase activity|cAMP-mediated signaling|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	glucagon receptor activity|peptide receptor activity, G-protein coupled			breast(5)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	31					Exenatide(DB01276)|Glucagon recombinant(DB00040)	TTTGTTCGGGTCATCTGCATC	0.557													4	158					0	0	1	0	0	C	39046913	T	C	39046913	3	2	293	1	0	0	0	0	1	0	0	0	6494	1667	58	3	1018	3	GLP1R	6	39046913	Missense_Mutation	SNP	T	TCGA-HT-8013-01A-11D-2395-08		39046913	132068154	9	28778											
FAM71F2	346653	broad.mit.edu	37	7	128315777	128315777	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8013-01A-11D-2395-08	TCGA-HT-8013-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	590efe82-cb5a-4e5e-943c-a8ebb1033776	da88f82c-7da0-4aec-97b0-11132dfb0ebb	g.chr7:128315777G>A	ENST00000480462.1	+	2	335	c.229G>A	c.(229-231)Gtg>Atg	p.V77M	FAM71F2_ENST00000477515.1_Missense_Mutation_p.V77M|FAM71F2_ENST00000460349.1_3'UTR|FAM71F2_ENST00000378704.3_Missense_Mutation_p.V68M			Q6NXP2	F71F2_HUMAN	family with sequence similarity 71, member F2	77										NS(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(2)	7						GTCTGCCACCGTGATCCTCGG	0.582													3	44					0	0	1	0	0	A	128315777	G	A	128315777	3	1	293	1	0	0	0	0	1	0	0	0	5648	1145	40	1	235	1	FAM71F2	7	128315777	Missense_Mutation	SNP	G	TCGA-HT-8013-01A-11D-2395-08		128315777	30822886	10	28779											
CNTNAP2	26047	broad.mit.edu	37	7	146829342	146829342	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HT-8013-01A-11D-2395-08	TCGA-HT-8013-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	590efe82-cb5a-4e5e-943c-a8ebb1033776	da88f82c-7da0-4aec-97b0-11132dfb0ebb	g.chr7:146829342delT	ENST00000361727.3	+	8	1605	c.1089delT	c.(1087-1089)aatfs	p.N363fs		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	363	Laminin G-like 1.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			TACAGGGAAATTTGAGCTTTT	0.428										HNSCC(39;0.1)			64	54	---	---	---	---						-	146829342	T	-	146829342	7	5	293	1	0	1	0	1	0	0	0	0	3670	1490	52	0	1119	0	CNTNAP2	7	146829342	Frame_Shift_Del	DEL	T	TCGA-HT-8013-01A-11D-2395-08	18513565	146829342	12309321	11	28780											
RBM12B	389677	broad.mit.edu	37	8	94745679	94745679	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-8013-01A-11D-2395-08	TCGA-HT-8013-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	590efe82-cb5a-4e5e-943c-a8ebb1033776	da88f82c-7da0-4aec-97b0-11132dfb0ebb	g.chr8:94745679T>C	ENST00000399300.2	-	3	3173	c.2960A>G	c.(2959-2961)aAt>aGt	p.N987S	RP11-10N23.4_ENST00000517998.1_RNA|RBM12B_ENST00000520961.1_Intron|RBM12B_ENST00000517700.1_Missense_Mutation_p.N867S	NM_203390.2	NP_976324.2	Q8IXT5	RB12B_HUMAN	RNA binding motif protein 12B	987	RRM 4.						nucleotide binding|RNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			TGGCCTATCATTTAGATCTTT	0.378													23	29					0	0	1	0	0	C	94745679	T	C	94745679	3	2	293	1	0	0	0	0	1	0	0	0	13166	1493	52	3	49	3	RBM12B	8	94745679	Missense_Mutation	SNP	T	TCGA-HT-8013-01A-11D-2395-08		94745679	51618343	12	28781											
ZNF438	220929	broad.mit.edu	37	10	31134429	31134429	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-8013-01A-11D-2395-08	TCGA-HT-8013-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	590efe82-cb5a-4e5e-943c-a8ebb1033776	da88f82c-7da0-4aec-97b0-11132dfb0ebb	g.chr10:31134429C>G	ENST00000452305.1	-	9	2481	c.1918G>C	c.(1918-1920)Ggt>Cgt	p.G640R	ZNF438_ENST00000442986.1_Missense_Mutation_p.G650R|ZNF438_ENST00000444692.2_Missense_Mutation_p.G640R|ZNF438_ENST00000361310.3_Missense_Mutation_p.G650R|ZNF438_ENST00000436087.2_Missense_Mutation_p.G650R|ZNF438_ENST00000375311.1_Missense_Mutation_p.G214R|ZNF438_ENST00000538351.2_Missense_Mutation_p.G601R|ZNF438_ENST00000413025.1_Missense_Mutation_p.G650R|ZNF438_ENST00000331737.6_Missense_Mutation_p.G640R	NM_001143770.1	NP_001137242.1	Q7Z4V0	ZN438_HUMAN	zinc finger protein 438	650					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(15)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(175;0.0587)				TGACAACGACCACATTTGATT	0.393													29	62					0	0	1	0	0	G	31134429	C	G	31134429	3	3	293	1	0	0	0	0	1	0	0	0	17967	594	21	5	542	5	ZNF438	10	31134429	Missense_Mutation	SNP	C	TCGA-HT-8013-01A-11D-2395-08		31134429	104400318	13	28782											
STK32C	282974	broad.mit.edu	37	10	134021578	134021578	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-8013-01A-11D-2395-08	TCGA-HT-8013-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	590efe82-cb5a-4e5e-943c-a8ebb1033776	da88f82c-7da0-4aec-97b0-11132dfb0ebb	g.chr10:134021578T>C	ENST00000368622.1	-	12	1427	c.1046A>G	c.(1045-1047)gAc>gGc	p.D349G	STK32C_ENST00000368625.4_Missense_Mutation_p.D479G			Q86UX6	ST32C_HUMAN	serine/threonine kinase 32C	466	Protein kinase.						ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(1)|endometrium(2)|large_intestine(2)|lung(15)|ovary(2)|skin(1)	23		all_cancers(35;2.72e-11)|all_epithelial(44;2.33e-08)|Lung NSC(174;0.000855)|all_lung(145;0.00146)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.112)|Melanoma(40;0.124)|Glioma(114;0.203)		Epithelial(32;3.99e-05)|all cancers(32;5.58e-05)|OV - Ovarian serous cystadenocarcinoma(35;9.96e-05)|BRCA - Breast invasive adenocarcinoma(275;0.222)		TTCCGCCTCGTCCTCCACAGG	0.706													3	30					0	0	1	0	0	C	134021578	T	C	134021578	3	2	293	1	0	0	0	0	1	0	0	0	15355	1667	58	3	67	3	STK32C	10	134021578	Missense_Mutation	SNP	T	TCGA-HT-8013-01A-11D-2395-08	102887149	134021578	1513169	14	28783											
ZNF215	7762	broad.mit.edu	37	11	6977476	6977476	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8013-01A-11D-2395-08	TCGA-HT-8013-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	590efe82-cb5a-4e5e-943c-a8ebb1033776	da88f82c-7da0-4aec-97b0-11132dfb0ebb	g.chr11:6977476C>T	ENST00000278319.5	+	7	1856	c.1268C>T	c.(1267-1269)aCt>aTt	p.T423I	ZNF215_ENST00000529903.1_Intron|ZNF215_ENST00000414517.2_Missense_Mutation_p.T423I	NM_013250.2	NP_037382.2	Q9UL58	ZN215_HUMAN	zinc finger protein 215	423					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(4)	32				Epithelial(150;6.33e-08)|BRCA - Breast invasive adenocarcinoma(625;0.134)		ACAAACCTTACTAAGCATCAA	0.408													7	31					0	0	1	0	0	T	6977476	C	T	6977476	3	4	293	1	0	0	0	0	1	0	0	0	17829	565	20	2	1286	2	ZNF215	11	6977476	Missense_Mutation	SNP	C	TCGA-HT-8013-01A-11D-2395-08		6977476	128029040	15	28784											
PCNXL3	399909	broad.mit.edu	37	11	65397113	65397113	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-8013-01A-11D-2395-08	TCGA-HT-8013-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	590efe82-cb5a-4e5e-943c-a8ebb1033776	da88f82c-7da0-4aec-97b0-11132dfb0ebb	g.chr11:65397113G>T	ENST00000355703.3	+	26	4662	c.4123G>T	c.(4123-4125)Gtc>Ttc	p.V1375F		NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN	pecanex-like 3 (Drosophila)	1375						integral to membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						TGACTGCTTCGTCCTGGCCTC	0.617													7	14					0.00198382	0.00202056	1	1	0	T	65397113	G	T	65397113	3	4	293	1	0	0	0	0	1	0	0	0	11640	1145	40	5	4225	5	PCNXL3	11	65397113	Missense_Mutation	SNP	G	TCGA-HT-8013-01A-11D-2395-08	58419637	65397113	69609403	16	28785											
HTR3A	3359	broad.mit.edu	37	11	113856763	113856763	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8013-01A-11D-2395-08	TCGA-HT-8013-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	590efe82-cb5a-4e5e-943c-a8ebb1033776	da88f82c-7da0-4aec-97b0-11132dfb0ebb	g.chr11:113856763C>T	ENST00000504030.2	+	6	1016	c.571C>T	c.(571-573)Cgc>Tgc	p.R191C	HTR3A_ENST00000506841.2_Missense_Mutation_p.R191C|HTR3A_ENST00000355556.2_Missense_Mutation_p.R197C|HTR3A_ENST00000299961.5_Missense_Mutation_p.R176C|HTR3A_ENST00000375498.2_Missense_Mutation_p.R197C|HTR3A_ENST00000535865.1_Intron			P46098	5HT3A_HUMAN	5-hydroxytryptamine (serotonin) receptor 3A, ionotropic	191					digestion|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity	p.R191G(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199)	CTCTTTGTGGCGCTTGCCAGA	0.527													13	291					0	0	1	0	0	T	113856763	C	T	113856763	3	4	293	1	0	0	0	0	1	0	0	0	7488	768	27	1	637	1	HTR3A	11	113856763	Missense_Mutation	SNP	C	TCGA-HT-8013-01A-11D-2395-08	48459650	113856763	21149753	17	28786											
MON2	23041	broad.mit.edu	37	12	62986483	62986483	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-8013-01A-11D-2395-08	TCGA-HT-8013-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	590efe82-cb5a-4e5e-943c-a8ebb1033776	da88f82c-7da0-4aec-97b0-11132dfb0ebb	g.chr12:62986483A>G	ENST00000393630.3	+	36	5502	c.5111A>G	c.(5110-5112)gAt>gGt	p.D1704G	MON2_ENST00000551397.1_Missense_Mutation_p.D77G|MON2_ENST00000393632.2_Missense_Mutation_p.D1703G|MON2_ENST00000546600.1_3'UTR|MON2_ENST00000552738.1_Missense_Mutation_p.D1674G|MON2_ENST00000393629.2_Missense_Mutation_p.D1697G	NM_001278470.1|NM_001278472.1	NP_001265399.1|NP_001265401.1	Q7Z3U7	MON2_HUMAN	MON2 homolog (S. cerevisiae)	1704					Golgi to endosome transport|protein transport	cytoplasm	ARF guanyl-nucleotide exchange factor activity|binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(15)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	57			BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)		CCTTTTAAGGATTTCATGCAG	0.393													26	43					0	0	1	0	0	G	62986483	A	G	62986483	3	3	293	1	0	0	0	0	1	0	0	0	9749	333	12	3	5246	3	MON2	12	62986483	Missense_Mutation	SNP	A	TCGA-HT-8013-01A-11D-2395-08		62986483	70865412	18	28787											
SETD3	84193	broad.mit.edu	37	14	99865219	99865219	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8013-01A-11D-2395-08	TCGA-HT-8013-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	590efe82-cb5a-4e5e-943c-a8ebb1033776	da88f82c-7da0-4aec-97b0-11132dfb0ebb	g.chr14:99865219C>T	ENST00000331768.5	-	13	1741	c.1582G>A	c.(1582-1584)Gag>Aag	p.E528K		NM_032233.2	NP_115609.2	Q86TU7	SETD3_HUMAN	SET domain containing 3	528					peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|peptidyl-lysine trimethylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone methyltransferase activity (H3-K36 specific)|transcription coactivator activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25		all_cancers(154;0.224)|all_epithelial(191;0.0644)|Melanoma(154;0.0866)				CCAGCCTCCTCCTCGAGGTTT	0.532													69	92					0	0	1	0	0	T	99865219	C	T	99865219	3	4	293	1	0	0	0	0	1	0	0	0	14186	864	30	2	206	2	SETD3	14	99865219	Missense_Mutation	SNP	C	TCGA-HT-8013-01A-11D-2395-08		99865219	7484321	19	28788											
ERN2	10595	broad.mit.edu	37	16	23703565	23703565	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8013-01A-11D-2395-08	TCGA-HT-8013-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	590efe82-cb5a-4e5e-943c-a8ebb1033776	da88f82c-7da0-4aec-97b0-11132dfb0ebb	g.chr16:23703565G>A	ENST00000256797.4	-	18	2500	c.2332C>T	c.(2332-2334)Cgc>Tgc	p.R778C	ERN2_ENST00000457008.2_Missense_Mutation_p.R678C	NM_033266.3	NP_150296.3	Q76MJ5	ERN2_HUMAN	endoplasmic reticulum to nucleus signaling 2	730	Protein kinase.				apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity			large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		TTTGCCTGGCGATAAAGACTG	0.612													55	77					0	0	1	0	0	A	23703565	G	A	23703565	3	1	293	1	0	0	0	0	1	0	0	0	5266	1058	37	1	612	1	ERN2	16	23703565	Missense_Mutation	SNP	G	TCGA-HT-8013-01A-11D-2395-08		23703565	66651188	20	28789											
OR1A2	26189	broad.mit.edu	37	17	3100860	3100860	+	Silent	SNP	A	A	G			TCGA-HT-8013-01A-11D-2395-08	TCGA-HT-8013-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	590efe82-cb5a-4e5e-943c-a8ebb1033776	da88f82c-7da0-4aec-97b0-11132dfb0ebb	g.chr17:3100860A>G	ENST00000381951.1	+	1	48	c.48A>G	c.(46-48)ggA>ggG	p.G16G		NM_012352.1	NP_036484.1	Q9Y585	OR1A2_HUMAN	olfactory receptor, family 1, subfamily A, member 2	16					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(4)|stomach(2)	18						TTCTCCTGGGAGTTACTAGTC	0.398													52	62					0	0	1	0	0	G	3100860	A	G	3100860	2	3	293	1	0	0	0	0	0	0	0	1	10998	291	11	3		3	OR1A2	17	3100860	Silent	SNP	A	TCGA-HT-8013-01A-11D-2395-08		3100860	78094350	21	28790											
KIAA0753	9851	broad.mit.edu	37	17	6526324	6526324	+	Missense_Mutation	SNP	G	G	C			TCGA-HT-8013-01A-11D-2395-08	TCGA-HT-8013-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	590efe82-cb5a-4e5e-943c-a8ebb1033776	da88f82c-7da0-4aec-97b0-11132dfb0ebb	g.chr17:6526324G>C	ENST00000361413.3	-	6	1340	c.982C>G	c.(982-984)Cca>Gca	p.P328A	KIAA0753_ENST00000572370.1_Missense_Mutation_p.P29A|KIAA0753_ENST00000542606.1_Missense_Mutation_p.P29A	NM_014804.2	NP_055619.2	Q2KHM9	K0753_HUMAN	KIAA0753	328						centrosome				endometrium(4)|large_intestine(11)|lung(5)|prostate(4)	24				COAD - Colon adenocarcinoma(228;0.157)		GCAGGAAGTGGATGCTCCCCT	0.522													4	61					0	0	1	0	0	C	6526324	G	C	6526324	3	2	293	1	0	0	0	0	1	0	0	0	8233	1174	41	5	1977	5	KIAA0753	17	6526324	Missense_Mutation	SNP	G	TCGA-HT-8013-01A-11D-2395-08	3425464	6526324	74668886	22	28791											
TP53	7157	broad.mit.edu	37	17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	rs121913343		TCGA-HT-8013-01A-11D-2395-08	TCGA-HT-8013-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	590efe82-cb5a-4e5e-943c-a8ebb1033776	da88f82c-7da0-4aec-97b0-11132dfb0ebb	g.chr17:7577121G>A	ENST00000420246.2	-	8	949	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000269305.4_Missense_Mutation_p.R273C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	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).		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.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			10	13					0	0	1	0	0	A	7577121	G	A	7577121	3	1	293	1	0	0	0	0	1	0	0	0	16442	1087	38	1	469	1	TP53	17	7577121	Missense_Mutation	SNP	G	TCGA-HT-8013-01A-11D-2395-08	1050797	7577121	73618089	23	28792											
TP53	7157	broad.mit.edu	37	17	7577545	7577545	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-8013-01A-11D-2395-08	TCGA-HT-8013-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	590efe82-cb5a-4e5e-943c-a8ebb1033776	da88f82c-7da0-4aec-97b0-11132dfb0ebb	g.chr17:7577545T>C	ENST00000420246.2	-	7	868	c.736A>G	c.(736-738)Atg>Gtg	p.M246V	TP53_ENST00000413465.2_Missense_Mutation_p.M246V|TP53_ENST00000455263.2_Missense_Mutation_p.M246V|TP53_ENST00000445888.2_Missense_Mutation_p.M246V|TP53_ENST00000359597.4_Missense_Mutation_p.M246V|TP53_ENST00000269305.4_Missense_Mutation_p.M246V	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	246	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		M -> I (in sporadic cancers; somatic mutation).|M -> K (in sporadic cancers; somatic mutation).|M -> L (in sporadic cancers; somatic mutation).|M -> R (in sporadic cancers; somatic mutation).|M -> T (in sporadic cancers; somatic mutation).|M -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.M246V(34)|p.0?(8)|p.?(5)|p.M246L(3)|p.G244_M246>V(3)|p.M246fs*1(2)|p.M153V(2)|p.M246_P250delMNRRP(2)|p.G151_M153>V(1)|p.G244fs*17(1)|p.C242fs*98(1)|p.G245fs*17(1)|p.C242_M246>L(1)|p.C238_M246delCNSSCMGGM(1)|p.G245fs*14(1)|p.G245fs*16(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CTCCGGTTCATGCCGCCCATG	0.577		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)			25	50					0	0	1	0	0	C	7577545	T	C	7577545	3	2	293	1	0	0	0	0	1	0	0	0	16442	1464	51	3	554	3	TP53	17	7577545	Missense_Mutation	SNP	T	TCGA-HT-8013-01A-11D-2395-08	424	7577545	73617665	24	28793											
ANKRD24	170961	broad.mit.edu	37	19	4202046	4202046	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8013-01A-11D-2395-08	TCGA-HT-8013-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	590efe82-cb5a-4e5e-943c-a8ebb1033776	da88f82c-7da0-4aec-97b0-11132dfb0ebb	g.chr19:4202046G>A	ENST00000600132.1	+	6	643	c.367G>A	c.(367-369)Gcc>Acc	p.A123T	ANKRD24_ENST00000262970.5_Missense_Mutation_p.A213T|ANKRD24_ENST00000318934.4_Missense_Mutation_p.A123T	NM_133475.1	NP_597732.1	Q8TF21	ANR24_HUMAN	ankyrin repeat domain 24	123										endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	21				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181)		CCACCTGGCCGCCAAATACGG	0.522													4	87					0	0	1	0	0	A	4202046	G	A	4202046	3	1	293	1	0	0	0	0	1	0	0	0	649	1087	38	1	385	1	ANKRD24	19	4202046	Missense_Mutation	SNP	G	TCGA-HT-8013-01A-11D-2395-08		4202046	54926937	25	28794											
CYP4F2	8529	broad.mit.edu	37	19	16006353	16006353	+	Silent	SNP	G	G	A			TCGA-HT-8013-01A-11D-2395-08	TCGA-HT-8013-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	590efe82-cb5a-4e5e-943c-a8ebb1033776	da88f82c-7da0-4aec-97b0-11132dfb0ebb	g.chr19:16006353G>A	ENST00000221700.6	-	3	401	c.306C>T	c.(304-306)tgC>tgT	p.C102C	CYP4F2_ENST00000011989.7_Intron	NM_001082.3	NP_001073.3	P78329	CP4F2_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 2						leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding	p.C102C(1)		NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						TGTCGGGGTGGCACAAACTGA	0.597													5	251					0	0	1	0	0	A	16006353	G	A	16006353	2	1	293	1	0	0	0	0	0	0	0	1	4211	1195	42	2		2	CYP4F2	19	16006353	Silent	SNP	G	TCGA-HT-8013-01A-11D-2395-08	11804307	16006353	43122630	26	28795											
DBNDD2	55861	broad.mit.edu	37	20	44037441	44037441	+	Splice_Site	SNP	C	C	A			TCGA-HT-8013-01A-11D-2395-08	TCGA-HT-8013-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	590efe82-cb5a-4e5e-943c-a8ebb1033776	da88f82c-7da0-4aec-97b0-11132dfb0ebb	g.chr20:44037441C>A	ENST00000372712.2	+	3	721	c.140C>A	c.(139-141)cCc>cAc	p.P47H	DBNDD2_ENST00000372710.3_Splice_Site_p.P149H|SYS1-DBNDD2_ENST00000475242.1_3'UTR|DBNDD2_ENST00000372720.3_Splice_Site_p.P145H|DBNDD2_ENST00000372723.3_Splice_Site_p.P47H|DBNDD2_ENST00000372717.1_Splice_Site_p.P47H|DBNDD2_ENST00000357275.2_Splice_Site_p.P47H|SYS1-DBNDD2_ENST00000452133.1_3'UTR|DBNDD2_ENST00000360981.4_Splice_Site_p.P47H|DBNDD2_ENST00000372722.3_Splice_Site_p.P47H			Q9BQY9	DBND2_HUMAN	dysbindin (dystrobrevin binding protein 1) domain containing 2	145					negative regulation of protein kinase activity	cytoplasm	protein binding			breast(1)|lung(2)	3		Myeloproliferative disorder(115;0.0122)				TGATCCGCAGCCCCCATAGGT	0.517													17	21					3.45872e-05	3.58923e-05	1	1	0	A	44037441	C	A	44037441	5	1	293	1	0	0	0	0	0	0	1	0	4278	753	26	5	146	5	DBNDD2	20	44037441	Splice_Site	SNP	C	TCGA-HT-8013-01A-11D-2395-08		44037441	18988079	27	28796											
ATRX	546	broad.mit.edu	37	X	76939235	76939235	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HT-8013-01A-11D-2395-08	TCGA-HT-8013-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	590efe82-cb5a-4e5e-943c-a8ebb1033776	da88f82c-7da0-4aec-97b0-11132dfb0ebb	g.chrX:76939235C>A	ENST00000373344.5	-	9	1727	c.1513G>T	c.(1513-1515)Gaa>Taa	p.E505*	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Nonsense_Mutation_p.E467*	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	505					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)	TTGGCAGGTTCATATTGAGGT	0.383			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						112	172					1.45418e-49	1.53807e-49	1	1	0	A	76939235	C	A	76939235	4	1	293	1	0	0	0	0	0	1	0	0	1206	835	29	5	6073	5	ATRX	23	76939235	Nonsense_Mutation	SNP	C	TCGA-HT-8013-01A-11D-2395-08		76939235	78331325	28	28797											
PGK1	5230	broad.mit.edu	37	X	77380495	77380495	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8013-01A-11D-2395-08	TCGA-HT-8013-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	590efe82-cb5a-4e5e-943c-a8ebb1033776	da88f82c-7da0-4aec-97b0-11132dfb0ebb	g.chrX:77380495C>T	ENST00000373316.4	+	9	1228	c.1061C>T	c.(1060-1062)gCt>gTt	p.A354V	PGK1_ENST00000442431.1_Missense_Mutation_p.A218V|PGK1_ENST00000537456.1_Missense_Mutation_p.A326V|PGK1_ENST00000476531.1_3'UTR	NM_000291.3	NP_000282.1	P00558	PGK1_HUMAN	phosphoglycerate kinase 1	354					gluconeogenesis|glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	24						GGAACCAAAGCTCTCATGGAT	0.493													12	68					0	0	1	0	0	T	77380495	C	T	77380495	3	4	293	1	0	0	0	0	1	0	0	0	11838	797	28	2	1095	2	PGK1	23	77380495	Missense_Mutation	SNP	C	TCGA-HT-8013-01A-11D-2395-08	441260	77380495	77890065	29	28798											
MAMLD1	10046	broad.mit.edu	37	X	149638129	149638129	+	Missense_Mutation	SNP	T	T	A			TCGA-HT-8013-01A-11D-2395-08	TCGA-HT-8013-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	590efe82-cb5a-4e5e-943c-a8ebb1033776	da88f82c-7da0-4aec-97b0-11132dfb0ebb	g.chrX:149638129T>A	ENST00000370401.2	+	4	594	c.284T>A	c.(283-285)aTg>aAg	p.M95K	MAMLD1_ENST00000432680.2_Missense_Mutation_p.M70K|MAMLD1_ENST00000426613.2_Missense_Mutation_p.M70K|MAMLD1_ENST00000468306.1_3'UTR|MAMLD1_ENST00000262858.5_Missense_Mutation_p.M95K			Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	95					male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37	Acute lymphoblastic leukemia(192;6.56e-05)					ACCCTTGCAATGGGCCCAGGT	0.517													17	133					0	0	1	0	0	A	149638129	T	A	149638129	3	1	293	1	0	0	0	0	1	0	0	0	9258	1464	51	4	294	4	MAMLD1	23	149638129	Missense_Mutation	SNP	T	TCGA-HT-8013-01A-11D-2395-08	72257634	149638129	5632431	30	28799											
IL9R	3581	broad.mit.edu	37	X	155234153	155234153	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-8013-01A-11D-2395-08	TCGA-HT-8013-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	590efe82-cb5a-4e5e-943c-a8ebb1033776	da88f82c-7da0-4aec-97b0-11132dfb0ebb	g.chrX:155234153A>G	ENST00000424344.3	+	6	806	c.439A>G	c.(439-441)Atc>Gtc	p.I147V	IL9R_ENST00000540897.1_Missense_Mutation_p.I193V|IL9R_ENST00000369423.2_Missense_Mutation_p.I203V|IL9R_ENST00000244174.5_Missense_Mutation_p.I168V			Q01113	IL9R_HUMAN	interleukin 9 receptor	168					cell proliferation	extracellular space|integral to plasma membrane	interleukin-9 receptor activity			NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(12)|upper_aerodigestive_tract(1)	23	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					GACCTGGAGCATCAGTCCTGC	0.547													10	72					0	0	1	0	0	G	155234153	A	G	155234153	3	3	293	1	0	0	0	0	1	0	0	0	7752	217	8	3	520	3	IL9R	23	155234153	Missense_Mutation	SNP	A	TCGA-HT-8013-01A-11D-2395-08	5596024	155234153	36407	31	28800											
STK19	8859	broad.mit.edu	37	6	31939829	31939830	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HT-8015-01B-11D-A289-08	TCGA-HT-8015-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55afa04-bc32-4818-ba2e-58dd4092e082	dd28cfbb-397f-4b40-aa68-d769844fabc5	g.chr6:31939829_31939830insA	ENST00000375331.2	+	1	222_223	c.56_57insA	c.(55-60)gcaaacfs	p.N20fs	DXO_ENST00000375349.3_5'UTR|DXO_ENST00000478221.1_5'UTR|STK19_ENST00000375333.2_Frame_Shift_Ins_p.N20fs|DXO_ENST00000337523.5_5'UTR	NM_004197.1	NP_004188.1	P49842	STK19_HUMAN	serine/threonine kinase 19	20						nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			skin(5)|upper_aerodigestive_tract(2)	7						CAGTGGCGGGCAAACCCCTCCC	0.634													10	207	---	---	---	---						A	31939830	-	A	31939829	7	5	294	1	0	1	1	0	0	0	0	0	15348	710	25	0	58	0	STK19	6	31939829	Frame_Shift_Ins	INS	-	TCGA-HT-8015-01B-11D-A289-08		31939829	139175238	1	28801											
DAGLB	221955	broad.mit.edu	37	7	6449551	6449551	+	Missense_Mutation	SNP	G	G	A	rs138713047	by1000genomes	TCGA-HT-8015-01B-11D-A289-08	TCGA-HT-8015-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55afa04-bc32-4818-ba2e-58dd4092e082	dd28cfbb-397f-4b40-aa68-d769844fabc5	g.chr7:6449551G>A	ENST00000297056.6	-	15	2105	c.1936C>T	c.(1936-1938)Cgg>Tgg	p.R646W	DAGLB_ENST00000436575.1_Missense_Mutation_p.R605W|DAGLB_ENST00000425398.2_Missense_Mutation_p.R517W	NM_139179.3	NP_631918.3	Q8NCG7	DGLB_HUMAN	diacylglycerol lipase, beta	646					lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity	p.R646W(1)		breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|urinary_tract(2)	26		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.102)		TCCAAGGCCCGCATCAGGATG	0.587													4	117					0	0	1	0	0	A	6449551	G	A	6449551	3	1	294	1	0	0	0	0	1	0	0	0	4251	1086	38	1	86	1	DAGLB	7	6449551	Missense_Mutation	SNP	G	TCGA-HT-8015-01B-11D-A289-08		6449551	152689112	2	28802											
SCRN1	9805	broad.mit.edu	37	7	29983623	29983623	+	Missense_Mutation	SNP	C	C	A			TCGA-HT-8015-01B-11D-A289-08	TCGA-HT-8015-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55afa04-bc32-4818-ba2e-58dd4092e082	dd28cfbb-397f-4b40-aa68-d769844fabc5	g.chr7:29983623C>A	ENST00000426154.1	-	4	690	c.514G>T	c.(514-516)Ggg>Tgg	p.G172W	SCRN1_ENST00000416113.2_Missense_Mutation_p.G63W|SCRN1_ENST00000409497.1_Missense_Mutation_p.G172W|SCRN1_ENST00000434476.2_Missense_Mutation_p.G192W|SCRN1_ENST00000242059.5_Missense_Mutation_p.G172W|SCRN1_ENST00000425819.2_Missense_Mutation_p.G104W	NM_001145513.1	NP_001138985.1	Q12765	SCRN1_HUMAN	secernin 1	172					exocytosis|proteolysis	cytoplasm|nuclear membrane	dipeptidase activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|ovary(2)|prostate(2)|skin(2)	25						CAGTACTTCCCTATGGTCTCG	0.527													4	111					2.56e-06	2.89391e-06	1	1	0	A	29983623	C	A	29983623	3	1	294	1	0	0	0	0	1	0	0	0	13992	681	24	4	750	4	SCRN1	7	29983623	Missense_Mutation	SNP	C	TCGA-HT-8015-01B-11D-A289-08	23534072	29983623	129155040	3	28803											
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377		TCGA-HT-8015-01B-11D-A289-08	TCGA-HT-8015-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55afa04-bc32-4818-ba2e-58dd4092e082	dd28cfbb-397f-4b40-aa68-d769844fabc5	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				5	59					0	0	1	0	0	T	140453136	A	T	140453136	3	4	294	1	0	0	0	0	1	0	0	0	1498	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-HT-8015-01B-11D-A289-08	110469513	140453136	18685527	4	28804											
ARNT2	9915	broad.mit.edu	37	15	80845028	80845028	+	Silent	SNP	C	C	A			TCGA-HT-8015-01B-11D-A289-08	TCGA-HT-8015-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55afa04-bc32-4818-ba2e-58dd4092e082	dd28cfbb-397f-4b40-aa68-d769844fabc5	g.chr15:80845028C>A	ENST00000533983.1	+	11	1308	c.969C>A	c.(967-969)ccC>ccA	p.P323P	ARNT2_ENST00000303329.4_Silent_p.P334P|ARNT2_ENST00000527771.1_Silent_p.P323P			Q9HBZ2	ARNT2_HUMAN	aryl-hydrocarbon receptor nuclear translocator 2	334	PAS 2.				central nervous system development|in utero embryonic development|response to hypoxia		aryl hydrocarbon receptor binding|DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|pancreas(2)|prostate(2)|skin(1)	35			BRCA - Breast invasive adenocarcinoma(143;0.134)			TGTCGGTGCCCACAGAGTTCT	0.498													4	91					0.00024832	0.000258253	1	1	0	A	80845028	C	A	80845028	2	1	294	1	0	0	0	0	0	0	0	1	965	581	21	5		5	ARNT2	15	80845028	Silent	SNP	C	TCGA-HT-8015-01B-11D-A289-08		80845028	21686364	5	28805											
FLYWCH1	84256	broad.mit.edu	37	16	2983818	2983818	+	Missense_Mutation	SNP	A	A	C			TCGA-HT-8015-01B-11D-A289-08	TCGA-HT-8015-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55afa04-bc32-4818-ba2e-58dd4092e082	dd28cfbb-397f-4b40-aa68-d769844fabc5	g.chr16:2983818A>C	ENST00000399667.2	+	6	1714	c.1351A>C	c.(1351-1353)Acc>Ccc	p.T451P	FLYWCH1_ENST00000416288.2_Missense_Mutation_p.T450P|FLYWCH1_ENST00000253928.9_Missense_Mutation_p.T451P			Q4VC44	FWCH1_HUMAN	FLYWCH-type zinc finger 1	451						nucleus	DNA binding|metal ion binding			kidney(1)|lung(3)	4						GGTGTATTGGACCTGCCGGGA	0.692													4	12					0	0	1	0	0	C	2983818	A	C	2983818	3	2	294	1	0	0	0	0	1	0	0	0	5980	275	10	5	1362	5	FLYWCH1	16	2983818	Missense_Mutation	SNP	A	TCGA-HT-8015-01B-11D-A289-08		2983818	87370935	6	28806											
DNAH3	55567	broad.mit.edu	37	16	21073899	21073899	+	Missense_Mutation	SNP	C	C	A			TCGA-HT-8015-01B-11D-A289-08	TCGA-HT-8015-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55afa04-bc32-4818-ba2e-58dd4092e082	dd28cfbb-397f-4b40-aa68-d769844fabc5	g.chr16:21073899C>A	ENST00000261383.3	-	25	3623	c.3624G>T	c.(3622-3624)aaG>aaT	p.K1208N	DNAH3_ENST00000415178.1_Missense_Mutation_p.K1208N	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1208	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TAAACTCAAGCTTGGCAATTC	0.448													4	82					0.00024832	0.000258253	1	1	0	A	21073899	C	A	21073899	3	1	294	1	0	0	0	0	1	0	0	0	4631	796	28	4	8877	4	DNAH3	16	21073899	Missense_Mutation	SNP	C	TCGA-HT-8015-01B-11D-A289-08	18090081	21073899	69280854	7	28807											
HN1	51155	broad.mit.edu	37	17	73144759	73144759	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8015-01B-11D-A289-08	TCGA-HT-8015-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55afa04-bc32-4818-ba2e-58dd4092e082	dd28cfbb-397f-4b40-aa68-d769844fabc5	g.chr17:73144759G>A	ENST00000409753.3	-	2	349	c.64C>T	c.(64-66)Cgg>Tgg	p.R22W	HN1_ENST00000356033.4_Missense_Mutation_p.R22W|HN1_ENST00000465454.1_5'UTR|HN1_ENST00000482348.1_5'UTR|HN1_ENST00000470924.1_5'UTR|HN1_ENST00000392566.2_5'UTR|HN1_ENST00000476258.1_5'UTR|HN1_ENST00000581874.1_Missense_Mutation_p.R22W|HN1_ENST00000481647.1_5'UTR|HN1_ENST00000405458.3_5'UTR	NM_016185.2	NP_057269.1	Q9UK76	HN1_HUMAN	hematological and neurological expressed 1	22						nucleus			HN1/USH1G(2)	breast(1)	1	all_lung(278;0.14)|Lung NSC(278;0.168)					CCTGGAGGCCGCAAAACTCTG	0.393													3	33					0	0	1	0	0	A	73144759	G	A	73144759	3	1	294	1	0	0	0	0	1	0	0	0	7290	1086	38	1	516	1	HN1	17	73144759	Missense_Mutation	SNP	G	TCGA-HT-8015-01B-11D-A289-08		73144759	8050451	8	28808											
RNF126	55658	broad.mit.edu	37	19	649708	649708	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HT-8015-01B-11D-A289-08	TCGA-HT-8015-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55afa04-bc32-4818-ba2e-58dd4092e082	dd28cfbb-397f-4b40-aa68-d769844fabc5	g.chr19:649708delC	ENST00000292363.5	-	6	702	c.547delG	c.(547-549)gccfs	p.A183fs		NM_194460.2	NP_919442.1	Q9BV68	RN126_HUMAN	ring finger protein 126	183							protein binding|zinc ion binding			lung(1)	1		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)		AGGCCGTTGGCCCCCCAGGCG	0.672													4	7	---	---	---	---						-	649708	C	-	649708	7	5	294	1	0	1	0	1	0	0	0	0	13487	739	26	0	404	0	RNF126	19	649708	Frame_Shift_Del	DEL	C	TCGA-HT-8015-01B-11D-A289-08		649708	58479275	9	28809											
LRFN3	79414	broad.mit.edu	37	19	36430512	36430512	+	Missense_Mutation	SNP	C	C	A			TCGA-HT-8015-01B-11D-A289-08	TCGA-HT-8015-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55afa04-bc32-4818-ba2e-58dd4092e082	dd28cfbb-397f-4b40-aa68-d769844fabc5	g.chr19:36430512C>A	ENST00000588831.1	+	3	1239	c.185C>A	c.(184-186)gCc>gAc	p.A62D	LRFN3_ENST00000246529.3_Missense_Mutation_p.A62D			Q9BTN0	LRFN3_HUMAN	leucine rich repeat and fibronectin type III domain containing 3	62					cell adhesion	axon|cell junction|dendrite|integral to membrane|postsynaptic membrane|presynaptic membrane				cervix(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	12	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			CGCCGGGCAGCCGAGCTGCGG	0.701													4	64					1	1	1	1	0	A	36430512	C	A	36430512	3	1	294	1	0	0	0	0	1	0	0	0	8984	739	26	5	187	5	LRFN3	19	36430512	Missense_Mutation	SNP	C	TCGA-HT-8015-01B-11D-A289-08	35780804	36430512	22698471	10	28810											
ERCC2	2068	broad.mit.edu	37	19	45855771	45855771	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8015-01B-11D-A289-08	TCGA-HT-8015-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55afa04-bc32-4818-ba2e-58dd4092e082	dd28cfbb-397f-4b40-aa68-d769844fabc5	g.chr19:45855771G>A	ENST00000391945.4	-	21	2116	c.2039C>T	c.(2038-2040)gCc>gTc	p.A680V	ERCC2_ENST00000391944.3_Missense_Mutation_p.A602V	NM_000400.3	NP_000391.1	P18074	ERCC2_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 2	680					cell cycle checkpoint|chromosome segregation|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|UV protection|viral reproduction	cytoplasm|holo TFIIH complex|MMXD complex	5'-3' DNA helicase activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding|protein C-terminus binding|protein N-terminus binding			large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|stomach(1)	9		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		CACCTTGTCGGCAAAGACCAT	0.612			"Mis, N, F, S"			"skin basal cell, skin squamous cell, melanoma"		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				4	113					0	0	1	0	0	A	45855771	G	A	45855771	3	1	294	1	0	0	0	0	1	0	0	0	5241	1203	42	2	255	2	ERCC2	19	45855771	Missense_Mutation	SNP	G	TCGA-HT-8015-01B-11D-A289-08	9425259	45855771	13273212	11	28811											
SELENBP1	8991	broad.mit.edu	37	1	151338256	151338256	+	Missense_Mutation	SNP	G	G	C			TCGA-HT-8018-01A-11D-2395-08	TCGA-HT-8018-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e43ccfe7-fa40-4168-925e-cda8c41db3ca	90acc6c9-bfed-426d-b85b-590b0e9535d6	g.chr1:151338256G>C	ENST00000426705.2	-	8	1180	c.1036C>G	c.(1036-1038)Ccc>Gcc	p.P346A	SELENBP1_ENST00000435071.1_Missense_Mutation_p.P240A|SELENBP1_ENST00000447402.3_Missense_Mutation_p.P242A|SELENBP1_ENST00000368868.5_Missense_Mutation_p.P304A	NM_001258289.1	NP_001245218.1	Q13228	SBP1_HUMAN	selenium binding protein 1	304					protein transport	cytosol|membrane|nucleolus	protein binding|selenium binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|urinary_tract(1)	20	Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GGCATTTCGGGCAGCAGCCAG	0.577													11	275					0	0	1	0	0	C	151338256	G	C	151338256	3	2	295	1	0	0	0	0	1	0	0	0	14068	1203	42	5	528	5	SELENBP1	1	151338256	Missense_Mutation	SNP	G	TCGA-HT-8018-01A-11D-2395-08		151338256	97912365	1	28812											
KCNT2	343450	broad.mit.edu	37	1	196274364	196274364	+	Splice_Site	SNP	C	C	T			TCGA-HT-8018-01A-11D-2395-08	TCGA-HT-8018-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e43ccfe7-fa40-4168-925e-cda8c41db3ca	90acc6c9-bfed-426d-b85b-590b0e9535d6	g.chr1:196274364C>T	ENST00000367433.5	-	21	2624	c.2523G>A	c.(2521-2523)aaG>aaA	p.K841K	KCNT2_ENST00000294725.9_Splice_Site_p.K865K|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000451324.2_Intron|KCNT2_ENST00000367431.4_Splice_Site_p.K791K|KCNT2_ENST00000609185.1_Splice_Site_p.K791K	NM_198503.2	NP_940905.2	Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	865						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						GGGGTCTTACCTTTTCCAGTT	0.338													3	40					0	0	1	0	0	T	196274364	C	T	196274364	5	4	295	1	0	0	0	0	0	0	1	0	8136	695	24	2	840	2	KCNT2	1	196274364	Splice_Site	SNP	C	TCGA-HT-8018-01A-11D-2395-08	44936108	196274364	52976257	2	28813											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-HT-8018-01A-11D-2395-08	TCGA-HT-8018-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e43ccfe7-fa40-4168-925e-cda8c41db3ca	90acc6c9-bfed-426d-b85b-590b0e9535d6	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	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								14	80					0	0	1	0	0	T	209113112	C	T	209113112	3	4	295	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HT-8018-01A-11D-2395-08		209113112	34086261	3	28814											
RBMS3	27303	broad.mit.edu	37	3	29323193	29323193	+	Silent	SNP	G	G	A			TCGA-HT-8018-01A-11D-2395-08	TCGA-HT-8018-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e43ccfe7-fa40-4168-925e-cda8c41db3ca	90acc6c9-bfed-426d-b85b-590b0e9535d6	g.chr3:29323193G>A	ENST00000434693.2	+	1	721	c.21G>A	c.(19-21)caG>caA	p.Q7Q	RBMS3_ENST00000456853.1_Silent_p.Q7Q|RBMS3-AS3_ENST00000413430.1_RNA|RBMS3_ENST00000445033.1_Silent_p.Q7Q|RBMS3_ENST00000452462.1_Silent_p.Q7Q|RBMS3_ENST00000383766.2_Silent_p.Q7Q|RBMS3_ENST00000396583.3_Silent_p.Q7Q|RBMS3_ENST00000273139.9_Silent_p.Q7Q|RBMS3_ENST00000383767.2_Silent_p.Q7Q	NM_001003793.2	NP_001003793.1	Q6XE24	RBMS3_HUMAN	RNA binding motif, single stranded interacting protein 3	7						cytoplasm	nucleotide binding|RNA binding			breast(1)|central_nervous_system(1)|large_intestine(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	11		Ovarian(412;0.0956)				GCCTGGATCAGCCACAAATGT	0.522													9	67					0	0	1	0	0	A	29323193	G	A	29323193	2	1	295	1	0	0	0	0	0	0	0	1	13202	962	34	2		2	RBMS3	3	29323193	Silent	SNP	G	TCGA-HT-8018-01A-11D-2395-08		29323193	168699237	4	28815											
QRICH1	54870	broad.mit.edu	37	3	49070172	49070172	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-8018-01A-11D-2395-08	TCGA-HT-8018-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e43ccfe7-fa40-4168-925e-cda8c41db3ca	90acc6c9-bfed-426d-b85b-590b0e9535d6	g.chr3:49070172T>C	ENST00000395443.2	-	8	2402	c.1930A>G	c.(1930-1932)Aag>Gag	p.K644E	QRICH1_ENST00000424300.1_Missense_Mutation_p.K644E|QRICH1_ENST00000357496.2_Missense_Mutation_p.K644E	NM_198880.1	NP_942581.1	Q2TAL8	QRIC1_HUMAN	glutamine-rich 1	644										breast(2)|endometrium(5)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25				BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		AAGGCCAGCTTCATGTGCTGG	0.502													22	100					0	0	1	0	0	C	49070172	T	C	49070172	3	2	295	1	0	0	0	0	1	0	0	0	12931	1792	62	3	412	3	QRICH1	3	49070172	Missense_Mutation	SNP	T	TCGA-HT-8018-01A-11D-2395-08	19746979	49070172	148952258	5	28816											
RGS12	6002	broad.mit.edu	37	4	3319342	3319342	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8018-01A-11D-2395-08	TCGA-HT-8018-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e43ccfe7-fa40-4168-925e-cda8c41db3ca	90acc6c9-bfed-426d-b85b-590b0e9535d6	g.chr4:3319342G>A	ENST00000336727.3	+	2	2349	c.1445G>A	c.(1444-1446)gGg>gAg	p.G482E	RGS12_ENST00000344733.5_Missense_Mutation_p.G482E|RGS12_ENST00000543385.1_Missense_Mutation_p.G482E|RGS12_ENST00000382788.3_Missense_Mutation_p.G482E	NM_002926.3	NP_002917.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12	482						condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		GACCCCGAAGGGAGCCCCCCA	0.677													26	120					0	0	1	0	0	A	3319342	G	A	3319342	3	1	295	1	0	0	0	0	1	0	0	0	13345	1232	43	2	1447	2	RGS12	4	3319342	Missense_Mutation	SNP	G	TCGA-HT-8018-01A-11D-2395-08		3319342	187834934	6	28817											
SLC26A8	116369	broad.mit.edu	37	6	35960439	35960439	+	Missense_Mutation	SNP	C	C	T	rs150075304		TCGA-HT-8018-01A-11D-2395-08	TCGA-HT-8018-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e43ccfe7-fa40-4168-925e-cda8c41db3ca	90acc6c9-bfed-426d-b85b-590b0e9535d6	g.chr6:35960439C>T	ENST00000490799.1	-	6	993	c.640G>A	c.(640-642)Gta>Ata	p.V214I	SLC26A8_ENST00000355574.2_Missense_Mutation_p.V214I|SLC26A8_ENST00000394602.2_Intron	NM_052961.3	NP_443193.1	Q96RN1	S26A8_HUMAN	solute carrier family 26 (anion exchanger), member 8	214					cell differentiation|meiosis|multicellular organismal development|spermatogenesis	integral to membrane|plasma membrane	anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						AAACCCAATACGCCCATTATT	0.493													5	96					0	0	1	0	0	T	35960439	C	T	35960439	3	4	295	1	0	0	0	0	1	0	0	0	14578	536	19	1	2332	1	SLC26A8	6	35960439	Missense_Mutation	SNP	C	TCGA-HT-8018-01A-11D-2395-08		35960439	135154628	7	28818											
TMEM63B	55362	broad.mit.edu	37	6	44118317	44118317	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8018-01A-11D-2395-08	TCGA-HT-8018-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e43ccfe7-fa40-4168-925e-cda8c41db3ca	90acc6c9-bfed-426d-b85b-590b0e9535d6	g.chr6:44118317C>T	ENST00000259746.9	+	18	1807	c.1624C>T	c.(1624-1626)Cgc>Tgc	p.R542C	TMEM63B_ENST00000323267.6_Missense_Mutation_p.R542C			Q5T3F8	TM63B_HUMAN	transmembrane protein 63B	542						integral to membrane	nucleotide binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(2)|prostate(2)|stomach(4)	35	all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0215)			CCTCTTCTTCCGCTGGCTCTT	0.572													17	71					0	0	1	0	0	T	44118317	C	T	44118317	3	4	295	1	0	0	0	0	1	0	0	0	16251	652	23	1	1690	1	TMEM63B	6	44118317	Missense_Mutation	SNP	C	TCGA-HT-8018-01A-11D-2395-08	8157878	44118317	126996750	8	28819											
IFRD1	3475	broad.mit.edu	37	7	112112278	112112278	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8018-01A-11D-2395-08	TCGA-HT-8018-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e43ccfe7-fa40-4168-925e-cda8c41db3ca	90acc6c9-bfed-426d-b85b-590b0e9535d6	g.chr7:112112278G>A	ENST00000403825.3	+	10	1307	c.1046G>A	c.(1045-1047)cGg>cAg	p.R349Q	IFRD1_ENST00000005558.4_Missense_Mutation_p.R349Q|IFRD1_ENST00000535603.1_Missense_Mutation_p.R299Q	NM_001550.3	NP_001541.2	O00458	IFRD1_HUMAN	interferon-related developmental regulator 1	349					multicellular organismal development|myoblast cell fate determination		binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|urinary_tract(1)	15						GGTTAGGAACGGGATTTTCCA	0.383													18	67					0	0	1	0	0	A	112112278	G	A	112112278	3	1	295	1	0	0	0	0	1	0	0	0	7597	1116	39	1	1084	1	IFRD1	7	112112278	Missense_Mutation	SNP	G	TCGA-HT-8018-01A-11D-2395-08		112112278	47026385	9	28820											
CYP11B1	1584	broad.mit.edu	37	8	143960802	143960802	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-8018-01A-11D-2395-08	TCGA-HT-8018-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e43ccfe7-fa40-4168-925e-cda8c41db3ca	90acc6c9-bfed-426d-b85b-590b0e9535d6	g.chr8:143960802G>T	ENST00000377675.3	-	2	340	c.334C>A	c.(334-336)Ccc>Acc	p.P112T	CYP11B1_ENST00000292427.4_Intron|CYP11B1_ENST00000517471.1_Intron			P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 1	80					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process	mitochondrial inner membrane	electron carrier activity|steroid 11-beta-monooxygenase activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Mitotane(DB00648)	AGCGAGCTGGGATTTGCTCTG	0.602									Familial Hyperaldosteronism type I				8	36					2.74318e-10	2.9439e-10	1	1	0	T	143960802	G	T	143960802	3	4	295	1	0	0	0	0	1	0	0	0	4168	1189	41	5		5	CYP11B1	8	143960802	Missense_Mutation	SNP	G	TCGA-HT-8018-01A-11D-2395-08		143960802	2403220	10	28821											
NOS1	4842	broad.mit.edu	37	12	117724027	117724027	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-8018-01A-11D-2395-08	TCGA-HT-8018-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e43ccfe7-fa40-4168-925e-cda8c41db3ca	90acc6c9-bfed-426d-b85b-590b0e9535d6	g.chr12:117724027T>C	ENST00000317775.6	-	6	1857	c.1172A>G	c.(1171-1173)aAa>aGa	p.K391R	NOS1_ENST00000338101.4_Missense_Mutation_p.K391R|NOS1_ENST00000344089.3_3'UTR	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN	nitric oxide synthase 1 (neuronal)	391					multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	GTCGATCTCTTTGTTCACCTC	0.532													3	37					0	0	1	0	0	C	117724027	T	C	117724027	3	2	295	1	0	0	0	0	1	0	0	0	10588	1841	64	3	3228	3	NOS1	12	117724027	Missense_Mutation	SNP	T	TCGA-HT-8018-01A-11D-2395-08		117724027	16127868	11	28822											
NLGN2	57555	broad.mit.edu	37	17	7318355	7318355	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8018-01A-11D-2395-08	TCGA-HT-8018-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e43ccfe7-fa40-4168-925e-cda8c41db3ca	90acc6c9-bfed-426d-b85b-590b0e9535d6	g.chr17:7318355C>T	ENST00000302926.2	+	5	998	c.925C>T	c.(925-927)Cgg>Tgg	p.R309W	NLGN2_ENST00000575301.1_Missense_Mutation_p.R309W	NM_020795.2	NP_065846.1	Q8NFZ4	NLGN2_HUMAN	neuroligin 2	309					cell-cell junction maintenance|neuron cell-cell adhesion|positive regulation of synaptogenesis|regulation of inhibitory postsynaptic membrane potential|synapse assembly	cell surface|integral to plasma membrane|postsynaptic membrane	neurexin binding|receptor activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|prostate(2)|skin(3)	22		Prostate(122;0.157)				CAAGTACACGCGGCTGCTGGC	0.652													4	80					0	0	1	0	0	T	7318355	C	T	7318355	3	4	295	1	0	0	0	0	1	0	0	0	10509	759	27	1	943	1	NLGN2	17	7318355	Missense_Mutation	SNP	C	TCGA-HT-8018-01A-11D-2395-08		7318355	73876855	12	28823											
TP53	7157	broad.mit.edu	37	17	7577117	7577117	+	Missense_Mutation	SNP	A	A	C			TCGA-HT-8018-01A-11D-2395-08	TCGA-HT-8018-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e43ccfe7-fa40-4168-925e-cda8c41db3ca	90acc6c9-bfed-426d-b85b-590b0e9535d6	g.chr17:7577117A>C	ENST00000420246.2	-	8	953	c.821T>G	c.(820-822)gTt>gGt	p.V274G	TP53_ENST00000445888.2_Missense_Mutation_p.V274G|TP53_ENST00000359597.4_Missense_Mutation_p.V274G|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.V274G|TP53_ENST00000269305.4_Missense_Mutation_p.V274G	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	274	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		V -> A (in sporadic cancers; somatic mutation).|V -> D (in sporadic cancers; somatic mutation).|V -> F (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> I (in sporadic cancers; somatic mutation).|V -> L (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.V274A(19)|p.V274D(9)|p.V274G(8)|p.0?(8)|p.?(2)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.V274_P278del(1)|p.F270_D281del12(1)|p.V272_K292del21(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)		ACAGGCACAAACACGCACCTC	0.552		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)			13	42					0	0	1	0	0	C	7577117	A	C	7577117	3	2	295	1	0	0	0	0	1	0	0	0	16442	43	2	5	465	5	TP53	17	7577117	Missense_Mutation	SNP	A	TCGA-HT-8018-01A-11D-2395-08	258762	7577117	73618093	13	28824											
TP53	7157	broad.mit.edu	37	17	7578212	7578212	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HT-8018-01A-11D-2395-08	TCGA-HT-8018-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e43ccfe7-fa40-4168-925e-cda8c41db3ca	90acc6c9-bfed-426d-b85b-590b0e9535d6	g.chr17:7578212G>A	ENST00000420246.2	-	6	769	c.637C>T	c.(637-639)Cga>Tga	p.R213*	TP53_ENST00000445888.2_Nonsense_Mutation_p.R213*|TP53_ENST00000574684.1_Intron|TP53_ENST00000359597.4_Nonsense_Mutation_p.R213*|TP53_ENST00000413465.2_Nonsense_Mutation_p.R213*|TP53_ENST00000455263.2_Nonsense_Mutation_p.R213*|TP53_ENST00000269305.4_Nonsense_Mutation_p.R213*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	213	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (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.R213*(250)|p.R81*(21)|p.R120*(21)|p.0?(8)|p.?(5)|p.R213G(5)|p.R213fs*35(3)|p.R213fs*34(3)|p.D208_V216delDRNTFRHSV(1)|p.R120G(1)|p.D207_R213delDDRNTFR(1)|p.T211_S215delTFRHS(1)|p.R81fs*>11(1)|p.D208fs*1(1)|p.R120fs*35(1)|p.R81G(1)|p.R209_R213delRNTFR(1)|p.R213fs*2(1)|p.T211fs*28(1)|p.R213_S215>X(1)|p.D207_V216del10(1)|p.R213R(1)|p.R213fs*32(1)|p.R209fs*6(1)|p.R213W(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)		ACACTATGTCGAAAAGTGTTT	0.532		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)			6	35					0	0	1	0	0	A	7578212	G	A	7578212	4	1	295	1	0	0	0	0	0	1	0	0	16442	1066	37	1	657	1	TP53	17	7578212	Nonsense_Mutation	SNP	G	TCGA-HT-8018-01A-11D-2395-08	1095	7578212	73616998	14	28825											
NPHS1	4868	broad.mit.edu	37	19	36333388	36333388	+	Missense_Mutation	SNP	C	C	T	rs146400394		TCGA-HT-8018-01A-11D-2395-08	TCGA-HT-8018-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e43ccfe7-fa40-4168-925e-cda8c41db3ca	90acc6c9-bfed-426d-b85b-590b0e9535d6	g.chr19:36333388C>T	ENST00000378910.5	-	18	2398	c.2399G>A	c.(2398-2400)cGc>cAc	p.R800H	NPHS1_ENST00000353632.6_Missense_Mutation_p.R800H	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)	800	Ig-like C2-type 7.				cell adhesion|excretion|muscle organ development	integral to plasma membrane		p.R800H(1)		NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			AATCCGCAGGCGCCCCGTTGG	0.607													15	92					0	0	1	0	0	T	36333388	C	T	36333388	3	4	295	1	0	0	0	0	1	0	0	0	10629	768	27	1	1374	1	NPHS1	19	36333388	Missense_Mutation	SNP	C	TCGA-HT-8018-01A-11D-2395-08		36333388	22795595	15	28826											
PRX	57716	broad.mit.edu	37	19	40902431	40902431	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8018-01A-11D-2395-08	TCGA-HT-8018-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e43ccfe7-fa40-4168-925e-cda8c41db3ca	90acc6c9-bfed-426d-b85b-590b0e9535d6	g.chr19:40902431C>T	ENST00000324001.7	-	7	2098	c.1828G>A	c.(1828-1830)Gag>Aag	p.E610K	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	610	55 X 5 AA approximate tandem repeats of [LVMAG]-[PSREQC]-[EDKL]-[LIVMAP]- [AQKHRPE]; that may have a tripeptide spacer of [LV]-P-[KER].				axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			ACGGCCATCTCGGGCACCTTC	0.532													10	273					0	0	1	0	0	T	40902431	C	T	40902431	3	4	295	1	0	0	0	0	1	0	0	0	12691	893	31	1	2561	1	PRX	19	40902431	Missense_Mutation	SNP	C	TCGA-HT-8018-01A-11D-2395-08	4569043	40902431	18226552	16	28827											
SHKBP1	92799	broad.mit.edu	37	19	41094661	41094661	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8018-01A-11D-2395-08	TCGA-HT-8018-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e43ccfe7-fa40-4168-925e-cda8c41db3ca	90acc6c9-bfed-426d-b85b-590b0e9535d6	g.chr19:41094661G>A	ENST00000291842.5	+	14	1517	c.1468G>A	c.(1468-1470)Ggc>Agc	p.G490S	SHKBP1_ENST00000597649.1_3'UTR|SHKBP1_ENST00000600733.1_Missense_Mutation_p.G465S	NM_138392.3	NP_612401.2	Q8TBC3	SHKB1_HUMAN	SH3KBP1 binding protein 1	490						voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.G490S(1)		breast(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(3)|urinary_tract(1)	29			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TGGGCATGGCGGCTGCAGTGC	0.617													9	63					0	0	1	0	0	A	41094661	G	A	41094661	3	1	295	1	0	0	0	0	1	0	0	0	14339	1116	39	1	1522	1	SHKBP1	19	41094661	Missense_Mutation	SNP	G	TCGA-HT-8018-01A-11D-2395-08	192230	41094661	18034322	17	28828											
VPS16	64601	broad.mit.edu	37	20	2840757	2840759	+	In_Frame_Del	DEL	ATA	ATA	-			TCGA-HT-8018-01A-11D-2395-08	TCGA-HT-8018-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e43ccfe7-fa40-4168-925e-cda8c41db3ca	90acc6c9-bfed-426d-b85b-590b0e9535d6	g.chr20:2840757_2840759delATA	ENST00000380445.3	+	3	272_274	c.200_202delATA	c.(199-204)gatata>gta	p.67_68DI>V	VPS16_ENST00000380469.3_In_Frame_Del_p.67_68DI>V	NM_022575.2	NP_072097.2	Q9H269	VPS16_HUMAN	vacuolar protein sorting 16 homolog (S. cerevisiae)	67					intracellular protein transport	early endosome|HOPS complex|late endosome membrane|lysosomal membrane|recycling endosome				NS(3)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	37						CCAGTGCTCGATATATACTCTGC	0.591													22	88	---	---	---	---						-	2840759	ATA	-	2840757	7	5	295	1	0	1	0	1	0	0	0	0	17253	333	12	0	210	0	VPS16	20	2840757	In_Frame_Del	DEL	ATA	TCGA-HT-8018-01A-11D-2395-08		2840757	60184763	18	28829											
MYT1	4661	broad.mit.edu	37	20	62839768	62839768	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HT-8018-01A-11D-2395-08	TCGA-HT-8018-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e43ccfe7-fa40-4168-925e-cda8c41db3ca	90acc6c9-bfed-426d-b85b-590b0e9535d6	g.chr20:62839768C>T	ENST00000536311.1	+	7	1583	c.1219C>T	c.(1219-1221)Cag>Tag	p.Q407*	MYT1_ENST00000360149.4_Intron|MYT1_ENST00000328439.1_Nonsense_Mutation_p.Q407*			Q01538	MYT1_HUMAN	myelin transcription factor 1	407					cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					CGAGCAGAGCCAGCTGGGCCT	0.672													18	45					0	0	1	0	0	T	62839768	C	T	62839768	4	4	295	1	0	0	0	0	0	1	0	0	10154	595	21	2	1237	2	MYT1	20	62839768	Nonsense_Mutation	SNP	C	TCGA-HT-8018-01A-11D-2395-08	59999011	62839768	185752	19	28830											
GGT5	2687	broad.mit.edu	37	22	24622165	24622165	+	Missense_Mutation	SNP	C	C	A			TCGA-HT-8018-01A-11D-2395-08	TCGA-HT-8018-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e43ccfe7-fa40-4168-925e-cda8c41db3ca	90acc6c9-bfed-426d-b85b-590b0e9535d6	g.chr22:24622165C>A	ENST00000327365.4	-	8	1524	c.1108G>T	c.(1108-1110)Gac>Tac	p.D370Y	GGT5_ENST00000263112.7_Missense_Mutation_p.D338Y|GGT5_ENST00000418439.2_Missense_Mutation_p.D293Y|GGT5_ENST00000398292.3_Missense_Mutation_p.D370Y	NM_001099781.1|NM_004121.2	NP_001093251.1|NP_004112.2	P36269	GGT5_HUMAN	gamma-glutamyltransferase 5	370					glutathione biosynthetic process|hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process	integral to membrane|plasma membrane	acyltransferase activity|gamma-glutamyltransferase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(3)|skin(3)	28						AGCTGGTGGTCCCCCCGGCCA	0.697													10	45					0.00136819	0.00140001	1	1	0	A	24622165	C	A	24622165	3	1	295	1	0	0	0	0	1	0	0	0	6404	855	30	5	675	5	GGT5	22	24622165	Missense_Mutation	SNP	C	TCGA-HT-8018-01A-11D-2395-08		24622165	26682401	20	28831											
NHS	4810	broad.mit.edu	37	X	17743968	17743968	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-8018-01A-11D-2395-08	TCGA-HT-8018-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e43ccfe7-fa40-4168-925e-cda8c41db3ca	90acc6c9-bfed-426d-b85b-590b0e9535d6	g.chrX:17743968G>T	ENST00000380060.3	+	6	2017	c.1679G>T	c.(1678-1680)aGg>aTg	p.R560M	NHS_ENST00000398097.3_Missense_Mutation_p.R404M	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	560						nucleus				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					GAGAGGGGAAGGTCACGTCTG	0.597													5	111					0.184627	0.184627	1	1	0	T	17743968	G	T	17743968	3	4	295	1	0	0	0	0	1	0	0	0	10458	1000	35	4	1806	4	NHS	23	17743968	Missense_Mutation	SNP	G	TCGA-HT-8018-01A-11D-2395-08		17743968	137526592	21	28832											
VSIG4	11326	broad.mit.edu	37	X	65253439	65253439	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-8018-01A-11D-2395-08	TCGA-HT-8018-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e43ccfe7-fa40-4168-925e-cda8c41db3ca	90acc6c9-bfed-426d-b85b-590b0e9535d6	g.chrX:65253439A>G	ENST00000455586.2	-	2	415	c.289T>C	c.(289-291)Tcc>Ccc	p.S97P	VSIG4_ENST00000374737.4_Missense_Mutation_p.S97P|VSIG4_ENST00000412866.2_Missense_Mutation_p.S97P	NM_001184830.1	NP_001171759.1	Q9Y279	VSIG4_HUMAN	V-set and immunoglobulin domain containing 4	97	Ig-like 1.				complement activation, alternative pathway	integral to membrane	protein binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						AATTGGAGGGATACATCTCCT	0.537													9	205					0	0	1	0	0	G	65253439	A	G	65253439	3	3	295	1	0	0	0	0	1	0	0	0	17285	333	12	3	942	3	VSIG4	23	65253439	Missense_Mutation	SNP	A	TCGA-HT-8018-01A-11D-2395-08	47509471	65253439	90017121	22	28833											
ATRX	546	broad.mit.edu	37	X	76931745	76931745	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-8018-01A-11D-2395-08	TCGA-HT-8018-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e43ccfe7-fa40-4168-925e-cda8c41db3ca	90acc6c9-bfed-426d-b85b-590b0e9535d6	g.chrX:76931745T>C	ENST00000373344.5	-	10	3999	c.3785A>G	c.(3784-3786)gAt>gGt	p.D1262G	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.D1224G	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1262	Poly-Asp.				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)	ATTGTCGTCATCATCATCATC	0.373			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						6	93					0	0	1	0	0	C	76931745	T	C	76931745	3	2	295	1	0	0	0	0	1	0	0	0	1206	1435	50	3	3797	3	ATRX	23	76931745	Missense_Mutation	SNP	T	TCGA-HT-8018-01A-11D-2395-08	11678306	76931745	78338815	23	28834											
PCDH11X	27328	broad.mit.edu	37	X	91134295	91134295	+	Missense_Mutation	SNP	C	C	A			TCGA-HT-8018-01A-11D-2395-08	TCGA-HT-8018-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e43ccfe7-fa40-4168-925e-cda8c41db3ca	90acc6c9-bfed-426d-b85b-590b0e9535d6	g.chrX:91134295C>A	ENST00000361724.1	+	2	3901	c.3056C>A	c.(3055-3057)aCa>aAa	p.T1019K	PCDH11X_ENST00000373097.1_Intron|PCDH11X_ENST00000395337.2_Intron|PCDH11X_ENST00000504220.2_Intron|PCDH11X_ENST00000361655.2_Intron|PCDH11X_ENST00000298274.8_Intron|PCDH11X_ENST00000406881.1_Intron|PCDH11X_ENST00000373088.1_Intron|PCDH11X_ENST00000373094.1_Intron	NM_014522.1	NP_055337.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	0					homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						GTTTCTAACACAACTTTCTAA	0.378													5	123					0.00116845	0.00122409	1	1	0	A	91134295	C	A	91134295	3	1	295	1	0	0	0	0	1	0	0	0	11555	478	17	5	3062	5	PCDH11X	23	91134295	Missense_Mutation	SNP	C	TCGA-HT-8018-01A-11D-2395-08	14202550	91134295	64136265	24	28835											
TBC1D8B	54885	broad.mit.edu	37	X	106061970	106061970	+	Missense_Mutation	SNP	C	C	G	rs143630640	byFrequency	TCGA-HT-8018-01A-11D-2395-08	TCGA-HT-8018-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e43ccfe7-fa40-4168-925e-cda8c41db3ca	90acc6c9-bfed-426d-b85b-590b0e9535d6	g.chrX:106061970C>G	ENST00000357242.5	+	2	382	c.208C>G	c.(208-210)Cca>Gca	p.P70A	TBC1D8B_ENST00000276175.3_Missense_Mutation_p.P70A|TBC1D8B_ENST00000481617.2_Missense_Mutation_p.P70A|TBC1D8B_ENST00000310452.2_Missense_Mutation_p.P70A	NM_017752.2	NP_060222.2	Q0IIM8	TBC8B_HUMAN	TBC1 domain family, member 8B (with GRAM domain)	70						intracellular	calcium ion binding|Rab GTPase activator activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						ACACCAGACACCAGATTCTCA	0.363													5	120					0	0	1	0	0	G	106061970	C	G	106061970	3	3	295	1	0	0	0	0	1	0	0	0	15686	507	18	5	214	5	TBC1D8B	23	106061970	Missense_Mutation	SNP	C	TCGA-HT-8018-01A-11D-2395-08	14927675	106061970	49208590	25	28836											
PDZD4	57595	broad.mit.edu	37	X	153069212	153069212	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8018-01A-11D-2395-08	TCGA-HT-8018-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e43ccfe7-fa40-4168-925e-cda8c41db3ca	90acc6c9-bfed-426d-b85b-590b0e9535d6	g.chrX:153069212C>T	ENST00000164640.4	-	8	2097	c.1906G>A	c.(1906-1908)Gtg>Atg	p.V636M	PDZD4_ENST00000544474.1_Missense_Mutation_p.V527M|PDZD4_ENST00000393758.2_Missense_Mutation_p.V561M	NM_032512.2	NP_115901.2	Q76G19	PDZD4_HUMAN	PDZ domain containing 4	636						cell cortex				breast(3)|cervix(1)|endometrium(5)|lung(13)|skin(1)	23	all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CGCTTGGCCACGTAGCGGGTT	0.701													8	150					0	0	1	0	0	T	153069212	C	T	153069212	3	4	295	1	0	0	0	0	1	0	0	0	11750	536	19	1	407	1	PDZD4	23	153069212	Missense_Mutation	SNP	C	TCGA-HT-8018-01A-11D-2395-08	47007242	153069212	2201348	26	28837											
EXOC6	54536	broad.mit.edu	37	10	94700482	94700482	+	Splice_Site	SNP	A	A	T			TCGA-HT-8019-01A-21D-2395-08	TCGA-HT-8019-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02719fb3-2c30-4afa-b0e1-b51654332bdb	df62fbc1-7e1c-4a99-a231-47ec5ddfc1be	g.chr10:94700482A>T	ENST00000371552.4	+	13	1226		c.e13-1		EXOC6_ENST00000371547.4_Splice_Site|EXOC6_ENST00000260762.6_Splice_Site|EXOC6_ENST00000443748.2_Splice_Site	NM_001013848.2	NP_001013870.1	Q8TAG9	EXOC6_HUMAN	exocyst complex component 6						protein transport|vesicle docking involved in exocytosis	exocyst				cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	26		Colorectal(252;0.123)				TTTGTATTTTAGGGTTATGGT	0.313													4	26					0	0	1	0	0	T	94700482	A	T	94700482	5	4	296	1	0	0	0	0	0	0	1	0	5335	434	15	5	1351	5	EXOC6	10	94700482	Splice_Site	SNP	A	TCGA-HT-8019-01A-21D-2395-08		94700482	40834265	1	28838											
PLOD1	5351	broad.mit.edu	37	1	12024322	12024322	+	Silent	SNP	C	C	T			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr1:12024322C>T	ENST00000196061.4	+	12	1320	c.1293C>T	c.(1291-1293)tcC>tcT	p.S431S	PLOD1_ENST00000376369.3_Silent_p.S478S	NM_000302.3	NP_000293.2	Q02809	PLOD1_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1	431					epidermis development|hydroxylysine biosynthetic process|protein modification process|response to hypoxia	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein homodimerization activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000809)|KIRC - Kidney renal clear cell carcinoma(229;0.00267)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	Minoxidil(DB00350)|Succinic acid(DB00139)|Vitamin C(DB00126)	ATGCCCGTTCCGAGGACTACG	0.627													8	213					0	0	1	0	0	T	12024322	C	T	12024322	2	4	297	1	0	0	0	0	0	0	0	1	12149	639	23	1		1	PLOD1	1	12024322	Silent	SNP	C	TCGA-HT-8104-01A-11D-2395-08		12024322	237226299	1	28839											
ZNF683	257101	broad.mit.edu	37	1	26691676	26691676	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr1:26691676T>C	ENST00000436292.1	-	4	481	c.361A>G	c.(361-363)Aag>Gag	p.K121E	ZNF683_ENST00000374204.1_Missense_Mutation_p.K121E|ZNF683_ENST00000403843.1_Missense_Mutation_p.K121E|ZNF683_ENST00000349618.3_Missense_Mutation_p.K121E			Q8IZ20	ZN683_HUMAN	zinc finger protein 683	121					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1)	15		all_cancers(24;2.39e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.76e-26)|Colorectal(126;1.38e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00793)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.159)|LUSC - Lung squamous cell carcinoma(448;0.233)		GTGAATTTCTTGTCATCGGTG	0.577													4	9					0	0	1	0	0	C	26691676	T	C	26691676	3	2	297	1	0	0	0	0	1	0	0	0	18146	1821	63	3	1165	3	ZNF683	1	26691676	Missense_Mutation	SNP	T	TCGA-HT-8104-01A-11D-2395-08	14667354	26691676	222558945	2	28840											
C8A	731	broad.mit.edu	37	1	57378109	57378109	+	Missense_Mutation	SNP	A	A	T			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr1:57378109A>T	ENST00000361249.3	+	10	1510	c.1414A>T	c.(1414-1416)Agc>Tgc	p.S472C		NM_000562.2	NP_000553.1	P07357	CO8A_HUMAN	complement component 8, alpha polypeptide	472	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						GCGGCACACAAGCCTGGGGCC	0.602													36	70					0	0	1	0	0	T	57378109	A	T	57378109	3	4	297	1	0	0	0	0	1	0	0	0	2432	72	3	5	1452	5	C8A	1	57378109	Missense_Mutation	SNP	A	TCGA-HT-8104-01A-11D-2395-08	30686433	57378109	191872512	3	28841											
RPF1	80135	broad.mit.edu	37	1	84961976	84961976	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr1:84961976C>T	ENST00000370654.5	+	8	946	c.931C>T	c.(931-933)Cgt>Tgt	p.R311C		NM_025065.6	NP_079341.2	Q9H9Y2	RPF1_HUMAN	ribosome production factor 1 homolog (S. cerevisiae)	311	Brix.|RNA-binding (By similarity).				rRNA processing|translation	nucleolus	aminoacyl-tRNA ligase activity|ATP binding|rRNA binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(2)|prostate(1)	14						ACTTGGACCACGTTTTACCTT	0.328													34	40					0	0	1	0	0	T	84961976	C	T	84961976	3	4	297	1	0	0	0	0	1	0	0	0	13598	536	19	1	961	1	RPF1	1	84961976	Missense_Mutation	SNP	C	TCGA-HT-8104-01A-11D-2395-08	27583867	84961976	164288645	4	28842											
ATP1A2	477	broad.mit.edu	37	1	160099056	160099056	+	Splice_Site	SNP	C	C	T			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr1:160099056C>T	ENST00000361216.3	+	11	1416	c.1327C>T	c.(1327-1329)Cgg>Tgg	p.R443W	ATP1A2_ENST00000392233.3_Splice_Site_p.R443W	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	443					ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			CTTCTGGCAGCGGGACACAGC	0.557													84	163					0	0	1	0	0	T	160099056	C	T	160099056	5	4	297	1	0	0	0	0	0	0	1	0	1128	782	27	1	1369	1	ATP1A2	1	160099056	Splice_Site	SNP	C	TCGA-HT-8104-01A-11D-2395-08	75137080	160099056	89151565	5	28843											
FASLG	356	broad.mit.edu	37	1	172628551	172628551	+	Silent	SNP	C	C	A			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr1:172628551C>A	ENST00000367721.2	+	1	394	c.210C>A	c.(208-210)ccC>ccA	p.P70P	FASLG_ENST00000340030.3_Silent_p.P70P	NM_000639.1	NP_000630.1	P48023	TNFL6_HUMAN	Fas ligand (TNF superfamily, member 6)	70	Pro-rich.				activation of caspase activity|activation of pro-apoptotic gene products|cell-cell signaling|immune response|induction of necroptosis by extracellular signals|induction of necroptosis of activated-T cells|necrotic cell death|negative regulation of angiogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|signal transduction	extracellular space|integral to plasma membrane	cytokine activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|skin(1)	19						cgctgccaccCCTGAAGAAGA	0.617													9	20					3.86212e-05	3.98571e-05	1	1	0	A	172628551	C	A	172628551	2	1	297	1	0	0	0	0	0	0	0	1	5715	610	22	5		5	FASLG	1	172628551	Silent	SNP	C	TCGA-HT-8104-01A-11D-2395-08	12529495	172628551	76622070	6	28844											
MIA3	375056	broad.mit.edu	37	1	222835662	222835662	+	Silent	SNP	C	C	T			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr1:222835662C>T	ENST00000344922.5	+	26	5275	c.5250C>T	c.(5248-5250)ctC>ctT	p.L1750L	MIA3_ENST00000340535.7_Silent_p.L628L|MIA3_ENST00000344507.1_Intron|MIA3_ENST00000344441.6_Silent_p.L1750L	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	1750	Pro-rich.				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)		CCAGGGTACTCGATGAAGGCA	0.423													3	117					0	0	1	0	0	T	222835662	C	T	222835662	2	4	297	1	0	0	0	0	0	0	0	1	9614	871	31	1		1	MIA3	1	222835662	Silent	SNP	C	TCGA-HT-8104-01A-11D-2395-08	50207111	222835662	26414959	7	28845											
TRIM58	25893	broad.mit.edu	37	1	248039261	248039261	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr1:248039261C>T	ENST00000366481.3	+	6	979	c.931C>T	c.(931-933)Cgc>Tgc	p.R311C	OR2W3_ENST00000537741.1_5'UTR	NM_015431.3	NP_056246.3	Q8NG06	TRI58_HUMAN	tripartite motif containing 58	311	B30.2/SPRY.					intracellular	zinc ion binding	p.R311C(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			CGCCGACCTGCGCAGTGTGCA	0.572													3	64					0	0	1	0	0	T	248039261	C	T	248039261	3	4	297	1	0	0	0	0	1	0	0	0	16592	768	27	1	953	1	TRIM58	1	248039261	Missense_Mutation	SNP	C	TCGA-HT-8104-01A-11D-2395-08	25203599	248039261	1211360	8	28846											
OR2G6	391211	broad.mit.edu	37	1	248685544	248685544	+	Silent	SNP	C	C	T			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr1:248685544C>T	ENST00000343414.4	+	1	629	c.597C>T	c.(595-597)ctC>ctT	p.L199L		NM_001013355.1	NP_001013373.1	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G, member 6	199					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			AGGCAGAACTCTTTGTGGCCA	0.473													29	70					0	0	1	0	0	T	248685544	C	T	248685544	2	4	297	1	0	0	0	0	0	0	0	1	11048	900	32	2		2	OR2G6	1	248685544	Silent	SNP	C	TCGA-HT-8104-01A-11D-2395-08	646283	248685544	565077	9	28847											
TTC27	55622	broad.mit.edu	37	2	32858959	32858959	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr2:32858959C>G	ENST00000317907.4	+	3	514	c.283C>G	c.(283-285)Cta>Gta	p.L95V		NM_001193509.1|NM_017735.4	NP_001180438.1|NP_060205.3	Q6P3X3	TTC27_HUMAN	tetratricopeptide repeat domain 27	95							protein binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38						GTTGATATTTCTACTTGGTGT	0.368													22	97					0	0	1	0	0	G	32858959	C	G	32858959	3	3	297	1	0	0	0	0	1	0	0	0	16757	912	32	4	293	4	TTC27	2	32858959	Missense_Mutation	SNP	C	TCGA-HT-8104-01A-11D-2395-08		32858959	210340414	10	28848											
THSD7B	80731	broad.mit.edu	37	2	138378230	138378230	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr2:138378230G>A	ENST00000409968.1	+	20	3911	c.3733G>A	c.(3733-3735)Gtg>Atg	p.V1245M	THSD7B_ENST00000272643.3_Missense_Mutation_p.V1248M|THSD7B_ENST00000413152.2_Missense_Mutation_p.V1217M|THSD7B_ENST00000543459.1_Intron					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		GGTGGAATGCGTGGTCAACTG	0.468													59	104					0	0	1	0	0	A	138378230	G	A	138378230	3	1	297	1	0	0	0	0	1	0	0	0	15940	1145	40	1	3719	1	THSD7B	2	138378230	Missense_Mutation	SNP	G	TCGA-HT-8104-01A-11D-2395-08	105519271	138378230	104821143	11	28849											
LRP1B	53353	broad.mit.edu	37	2	141072598	141072598	+	Missense_Mutation	SNP	A	A	C			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr2:141072598A>C	ENST00000389484.3	-	83	13682	c.12711T>G	c.(12709-12711)tgT>tgG	p.C4237W		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4237	EGF-like 10.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GCCAACAGTGACACCTCAAAT	0.383										TSP Lung(27;0.18)			3	85					0	0	1	0	0	C	141072598	A	C	141072598	3	2	297	1	0	0	0	0	1	0	0	0	9000	273	10	5	1124	5	LRP1B	2	141072598	Missense_Mutation	SNP	A	TCGA-HT-8104-01A-11D-2395-08	2694368	141072598	102126775	12	28850											
EPC2	26122	broad.mit.edu	37	2	149528637	149528637	+	Silent	SNP	A	A	G			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr2:149528637A>G	ENST00000258484.6	+	10	1435	c.1401A>G	c.(1399-1401)acA>acG	p.T467T		NM_015630.3	NP_056445.3	Q52LR7	EPC2_HUMAN	enhancer of polycomb homolog 2 (Drosophila)	467					chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.0516)		GAATATCCACAGAACATGACC	0.383													18	22					0	0	1	0	0	G	149528637	A	G	149528637	2	3	297	1	0	0	0	0	0	0	0	1	5189	175	7	3		3	EPC2	2	149528637	Silent	SNP	A	TCGA-HT-8104-01A-11D-2395-08	8456039	149528637	93670736	13	28851											
LRP2	4036	broad.mit.edu	37	2	170038807	170038807	+	Missense_Mutation	SNP	G	G	A	rs144973875		TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr2:170038807G>A	ENST00000263816.3	-	51	10153	c.9868C>T	c.(9868-9870)Cgc>Tgc	p.R3290C	LRP2_ENST00000461418.1_5'UTR	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	3290					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	p.R3290C(1)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	CCATCCAGGCGGGCATCCAAC	0.502													30	104					0	0	1	0	0	A	170038807	G	A	170038807	3	1	297	1	0	0	0	0	1	0	0	0	9001	1116	39	1	4215	1	LRP2	2	170038807	Missense_Mutation	SNP	G	TCGA-HT-8104-01A-11D-2395-08	20510170	170038807	73160566	14	28852											
SF3B1	23451	broad.mit.edu	37	2	198267364	198267364	+	Missense_Mutation	SNP	T	T	A			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr2:198267364T>A	ENST00000335508.6	-	14	2084	c.1993A>T	c.(1993-1995)Att>Ttt	p.I665F		NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa						nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding			NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			ACAATCTTAATACCAGTGTGT	0.408			Mis		myelodysplastic syndrome								13	68					0	0	1	0	0	A	198267364	T	A	198267364	3	1	297	1	0	0	0	0	1	0	0	0	14203	1406	49	4	1969	4	SF3B1	2	198267364	Missense_Mutation	SNP	T	TCGA-HT-8104-01A-11D-2395-08	28228557	198267364	44932009	15	28853											
MAP2	4133	broad.mit.edu	37	2	210558554	210558554	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr2:210558554A>G	ENST00000360351.4	+	7	2166	c.1660A>G	c.(1660-1662)Aca>Gca	p.T554A	MAP2_ENST00000447185.1_Missense_Mutation_p.T550A|MAP2_ENST00000392194.1_Intron|MAP2_ENST00000199940.6_Intron|MAP2_ENST00000361559.4_Intron	NM_002374.3	NP_002365.3	P11137	MAP2_HUMAN	microtubule-associated protein 2	554					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	TGGAGCTGCAACATCAGCTGA	0.368													5	142					0	0	1	0	0	G	210558554	A	G	210558554	3	3	297	1	0	0	0	0	1	0	0	0	9285	43	2	3	1674	3	MAP2	2	210558554	Missense_Mutation	SNP	A	TCGA-HT-8104-01A-11D-2395-08	12291190	210558554	32640819	16	28854											
AP1S3	130340	broad.mit.edu	37	2	224629906	224629906	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr2:224629906C>T	ENST00000446015.2	-	4	486	c.453G>A	c.(451-453)atG>atA	p.M151I	AP1S3_ENST00000396653.2_3'UTR|AP1S3_ENST00000396654.2_Intron|AP1S3_ENST00000443700.1_Intron			Q96PC3	AP1S3_HUMAN	adaptor-related protein complex 1, sigma 3 subunit	151					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	coated pit|cytoplasmic vesicle membrane|cytosol|Golgi membrane|lysosomal membrane|membrane coat	protein transporter activity			NS(1)|breast(1)|lung(2)	4		Renal(207;0.0112)|Lung NSC(271;0.0186)|all_lung(227;0.0272)		Epithelial(121;7.6e-10)|all cancers(144;3.62e-07)|Lung(261;0.0086)|LUSC - Lung squamous cell carcinoma(224;0.00902)		atcTTTCTCCCATGGTTTGGG	0.373													30	52					0	0	1	0	0	T	224629906	C	T	224629906	3	4	297	1	0	0	0	0	1	0	0	0	734	609	21	2		2	AP1S3	2	224629906	Missense_Mutation	SNP	C	TCGA-HT-8104-01A-11D-2395-08	14071352	224629906	18569467	17	28855											
IQCA1	79781	broad.mit.edu	37	2	237308067	237308067	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr2:237308067T>C	ENST00000409907.3	-	9	1473	c.1199A>G	c.(1198-1200)aAc>aGc	p.N400S	IQCA1_ENST00000431676.2_Missense_Mutation_p.N359S|IQCA1_ENST00000309507.5_Missense_Mutation_p.N396S|IQCA1_ENST00000465621.1_5'UTR	NM_024726.4	NP_079002.3	Q86XH1	IQCA1_HUMAN	IQ motif containing with AAA domain 1	400	Lys-rich.						ATP binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)	26						TTTGTATGCGTTACATCCTTC	0.463													5	109					0	0	1	0	0	C	237308067	T	C	237308067	3	2	297	1	0	0	0	0	1	0	0	0	7846	1725	60	3	1313	3	IQCA1	2	237308067	Missense_Mutation	SNP	T	TCGA-HT-8104-01A-11D-2395-08	12678161	237308067	5891306	18	28856											
COL6A3	1293	broad.mit.edu	37	2	238274357	238274357	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr2:238274357G>A	ENST00000295550.4	-	12	6274	c.5822C>T	c.(5821-5823)tCg>tTg	p.S1941L	COL6A3_ENST00000472056.1_Missense_Mutation_p.S1334L|COL6A3_ENST00000409809.1_Missense_Mutation_p.S1735L|COL6A3_ENST00000347401.3_Missense_Mutation_p.S1740L|COL6A3_ENST00000353578.4_Missense_Mutation_p.S1735L|COL6A3_ENST00000346358.4_Missense_Mutation_p.S1741L	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1941	Nonhelical region.|VWFA 10.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GCTGTCCGGCGAGGACTGTCT	0.552													31	52					0	0	1	0	0	A	238274357	G	A	238274357	3	1	297	1	0	0	0	0	1	0	0	0	3724	1059	37	1	3843	1	COL6A3	2	238274357	Missense_Mutation	SNP	G	TCGA-HT-8104-01A-11D-2395-08	966290	238274357	4925016	19	28857											
HDLBP	3069	broad.mit.edu	37	2	242194885	242194885	+	Silent	SNP	G	G	A			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr2:242194885G>A	ENST00000391975.1	-	8	1211	c.984C>T	c.(982-984)tcC>tcT	p.S328S	HDLBP_ENST00000427183.2_Intron|HDLBP_ENST00000391976.2_Silent_p.S328S|HDLBP_ENST00000310931.4_Silent_p.S328S	NM_203346.3	NP_976221	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein	328	KH 3.				cholesterol metabolic process|lipid transport	cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane	lipid binding|protein binding|RNA binding			breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)		GGATCTCAACGGAAACTCCAG	0.473													4	150					0	0	1	0	0	A	242194885	G	A	242194885	2	1	297	1	0	0	0	0	0	0	0	1	7066	1103	39	1		1	HDLBP	2	242194885	Silent	SNP	G	TCGA-HT-8104-01A-11D-2395-08	3920528	242194885	1004488	20	28858											
GRK7	131890	broad.mit.edu	37	3	141497220	141497220	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr3:141497220C>T	ENST00000264952.2	+	1	231	c.94C>T	c.(94-96)Cgg>Tgg	p.R32W		NM_139209.2	NP_631948.1	Q8WTQ7	GRK7_HUMAN	G protein-coupled receptor kinase 7	32					visual perception	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26						AGAGCTGCAGCGGCGGCGGCG	0.682													15	47					0	0	1	0	0	T	141497220	C	T	141497220	3	4	297	1	0	0	0	0	1	0	0	0	6835	759	27	1	96	1	GRK7	3	141497220	Missense_Mutation	SNP	C	TCGA-HT-8104-01A-11D-2395-08		141497220	56525210	21	28859											
MCF2L2	23101	broad.mit.edu	37	3	183107495	183107495	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr3:183107495G>A	ENST00000328913.3	-	2	446	c.149C>T	c.(148-150)gCc>gTc	p.A50V	MCF2L2_ENST00000447025.2_Missense_Mutation_p.A50V|MCF2L2_ENST00000473233.1_Missense_Mutation_p.A50V|MCF2L2_ENST00000414362.2_Missense_Mutation_p.A50V	NM_015078.2	NP_055893	Q86YR7	MF2L2_HUMAN	MCF.2 cell line derived transforming sequence-like 2	50	CRAL-TRIO.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			TGAAAGAATGGCAAATTGTCT	0.433													3	93					0	0	1	0	0	A	183107495	G	A	183107495	3	1	297	1	0	0	0	0	1	0	0	0	9430	1203	42	2	3311	2	MCF2L2	3	183107495	Missense_Mutation	SNP	G	TCGA-HT-8104-01A-11D-2395-08	41610275	183107495	14914935	22	28860											
KIAA0232	9778	broad.mit.edu	37	4	6865324	6865324	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr4:6865324C>T	ENST00000307659.5	+	7	3670	c.3215C>T	c.(3214-3216)cCg>cTg	p.P1072L	KIAA0232_ENST00000425103.1_Missense_Mutation_p.P1072L	NM_014743.2	NP_055558.2	Q92628	K0232_HUMAN	KIAA0232	1072							ATP binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(12)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	41						AGTTTTAAACCGAAATCAATC	0.418													38	100					0	0	1	0	0	T	6865324	C	T	6865324	3	4	297	1	0	0	0	0	1	0	0	0	8205	652	23	1	3233	1	KIAA0232	4	6865324	Missense_Mutation	SNP	C	TCGA-HT-8104-01A-11D-2395-08		6865324	184288952	23	28861											
GABRA4	2557	broad.mit.edu	37	4	46995377	46995377	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr4:46995377C>T	ENST00000264318.3	-	1	1047	c.65G>A	c.(64-66)cGc>cAc	p.R22H	GABRA4_ENST00000509316.1_5'UTR	NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 4	22					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	GCACAGGAAGCGCAGGAGGGC	0.592													51	85					0	0	1	0	0	T	46995377	C	T	46995377	3	4	297	1	0	0	0	0	1	0	0	0	6198	768	27	1	1635	1	GABRA4	4	46995377	Missense_Mutation	SNP	C	TCGA-HT-8104-01A-11D-2395-08	40130053	46995377	144158899	24	28862											
LNX1	84708	broad.mit.edu	37	4	54327127	54327127	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr4:54327127G>A	ENST00000306888.2	-	10	2097	c.1846C>T	c.(1846-1848)Ctt>Ttt	p.L616F	FIP1L1_ENST00000507166.1_Intron|LNX1_ENST00000263925.7_Missense_Mutation_p.L712F	NM_032622.2	NP_116011.2	Q8TBB1	LNX1_HUMAN	ligand of numb-protein X 1, E3 ubiquitin protein ligase	712						cytoplasm	zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|endometrium(3)|large_intestine(11)|lung(6)|ovary(3)|urinary_tract(4)	32	all_neural(26;0.153)		GBM - Glioblastoma multiforme(3;8.2e-46)|LUSC - Lung squamous cell carcinoma(32;0.0134)			CTTCCTTTAAGTTCTTTCAGC	0.343													33	54					0	0	1	0	0	A	54327127	G	A	54327127	3	1	297	1	0	0	0	0	1	0	0	0	8906	1029	36	2	56	2	LNX1	4	54327127	Missense_Mutation	SNP	G	TCGA-HT-8104-01A-11D-2395-08	7331750	54327127	136827149	25	28863											
KDR	3791	broad.mit.edu	37	4	55961110	55961110	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr4:55961110G>A	ENST00000263923.4	-	21	3125	c.2830C>T	c.(2830-2832)Cga>Tga	p.R944*		NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	944	Protein kinase.				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity	p.R944R(1)		NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	TGACGGAATCGTGCCCCTTTG	0.433			Mis		"NSCLC, angiosarcoma"					TSP Lung(20;0.16)			31	61					0	0	1	0	0	A	55961110	G	A	55961110	4	1	297	1	0	0	0	0	0	1	0	0	8182	1153	40	1	1280	1	KDR	4	55961110	Nonsense_Mutation	SNP	G	TCGA-HT-8104-01A-11D-2395-08	1633983	55961110	135193166	26	28864											
ADH1B	125	broad.mit.edu	37	4	100237088	100237088	+	Silent	SNP	C	C	T	rs142861273		TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr4:100237088C>T	ENST00000305046.8	-	5	601	c.534G>A	c.(532-534)tcG>tcA	p.S178S	ADH1B_ENST00000394887.3_Silent_p.S138S			P00325	ADH1B_HUMAN	alcohol dehydrogenase 1B (class I), beta polypeptide	178					ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	33				OV - Ovarian serous cystadenocarcinoma(123;1.02e-07)	Fomepizole(DB01213)|NADH(DB00157)	CATAACCAGTCGAGAATCCAC	0.498													4	152					0	0	1	0	0	T	100237088	C	T	100237088	2	4	297	1	0	0	0	0	0	0	0	1	307	871	31	1		1	ADH1B	4	100237088	Silent	SNP	C	TCGA-HT-8104-01A-11D-2395-08	44275978	100237088	90917188	27	28865											
ADAMTS12	81792	broad.mit.edu	37	5	33683148	33683148	+	Missense_Mutation	SNP	C	C	T	rs61754760		TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr5:33683148C>T	ENST00000504830.1	-	5	1225	c.890G>A	c.(889-891)cGg>cAg	p.R297Q	ADAMTS12_ENST00000352040.3_Missense_Mutation_p.R297Q|ADAMTS12_ENST00000504582.1_5'UTR	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	297	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						TAGAATGAGCCGAACCACAAC	0.433										HNSCC(64;0.19)			21	49					0	0	1	0	0	T	33683148	C	T	33683148	3	4	297	1	0	0	0	0	1	0	0	0	256	652	23	1	3974	1	ADAMTS12	5	33683148	Missense_Mutation	SNP	C	TCGA-HT-8104-01A-11D-2395-08		33683148	147232112	28	28866											
SPEF2	79925	broad.mit.edu	37	5	35646854	35646854	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr5:35646854G>A	ENST00000440995.2	+	5	671	c.671G>A	c.(670-672)cGt>cAt	p.R224H	SPEF2_ENST00000282469.6_Missense_Mutation_p.R224H|SPEF2_ENST00000356031.3_Missense_Mutation_p.R224H|SPEF2_ENST00000509059.1_Missense_Mutation_p.R224H			Q9C093	SPEF2_HUMAN	sperm flagellar 2	224					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GCATCAAATCGTACTTTGAAA	0.333													42	81					0	0	1	0	0	A	35646854	G	A	35646854	3	1	297	1	0	0	0	0	1	0	0	0	15091	1145	40	1	689	1	SPEF2	5	35646854	Missense_Mutation	SNP	G	TCGA-HT-8104-01A-11D-2395-08	1963706	35646854	145268406	29	28867											
GZMK	3003	broad.mit.edu	37	5	54329739	54329739	+	Silent	SNP	G	G	A			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr5:54329739G>A	ENST00000231009.2	+	5	850	c.780G>A	c.(778-780)ccG>ccA	p.P260P	CTD-2313F11.1_ENST00000609699.1_RNA|CTD-2313F11.1_ENST00000595218.1_RNA	NM_002104.2	NP_002095.1	P49863	GRAK_HUMAN	granzyme K (granzyme 3; tryptase II)	260					proteolysis	extracellular region	serine-type endopeptidase activity	p.P260P(1)		autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)	15		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183)				ACCTTGTCCCGCCTCATACAA	0.408													17	47					0	0	1	0	0	A	54329739	G	A	54329739	2	1	297	1	0	0	0	0	0	0	0	1	6959	1074	38	1		1	GZMK	5	54329739	Silent	SNP	G	TCGA-HT-8104-01A-11D-2395-08	18682885	54329739	126585521	30	28868											
GPR98	84059	broad.mit.edu	37	5	89954001	89954001	+	Missense_Mutation	SNP	G	G	C			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr5:89954001G>C	ENST00000405460.2	+	21	4754	c.4658G>C	c.(4657-4659)cGt>cCt	p.R1553P		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	1553					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GGAGGAGCTCGTATTTCGGAA	0.348													37	83					0	0	1	0	0	C	89954001	G	C	89954001	3	2	297	1	0	0	0	0	1	0	0	0	6762	1145	40	5	4740	5	GPR98	5	89954001	Missense_Mutation	SNP	G	TCGA-HT-8104-01A-11D-2395-08	35624262	89954001	90961259	31	28869											
FBN2	2201	broad.mit.edu	37	5	127714467	127714467	+	Missense_Mutation	SNP	T	T	A			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr5:127714467T>A	ENST00000508053.1	-	18	2694	c.1720A>T	c.(1720-1722)Att>Ttt	p.I574F	FBN2_ENST00000508989.1_Missense_Mutation_p.I541F|FBN2_ENST00000262464.4_Missense_Mutation_p.I574F			P35556	FBN2_HUMAN	fibrillin 2	574	EGF-like 7; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		GCCTTACCAATGCATGCTTGC	0.363													4	139					0	0	1	0	0	A	127714467	T	A	127714467	3	1	297	1	0	0	0	0	1	0	0	0	5736	1464	51	4	7234	4	FBN2	5	127714467	Missense_Mutation	SNP	T	TCGA-HT-8104-01A-11D-2395-08	37760466	127714467	53200793	32	28870											
FAT2	2196	broad.mit.edu	37	5	150924339	150924339	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr5:150924339G>A	ENST00000261800.5	-	9	6361	c.6349C>T	c.(6349-6351)Cga>Tga	p.R2117*		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	2117	Cadherin 18.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	p.R2117*(1)		NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGGTCAATTCGGAAATATGTG	0.428													62	139					0	0	1	0	0	A	150924339	G	A	150924339	4	1	297	1	0	0	0	0	0	1	0	0	5723	1124	39	1	6760	1	FAT2	5	150924339	Nonsense_Mutation	SNP	G	TCGA-HT-8104-01A-11D-2395-08	23209872	150924339	29990921	33	28871											
FAM71B	153745	broad.mit.edu	37	5	156590151	156590151	+	Silent	SNP	C	C	T			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr5:156590151C>T	ENST00000302938.4	-	2	1220	c.1125G>A	c.(1123-1125)gcG>gcA	p.A375A		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	375						nucleus				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TGCCTGCAAACGCCGCACTCA	0.582													21	54					0	0	1	0	0	T	156590151	C	T	156590151	2	4	297	1	0	0	0	0	0	0	0	1	5643	523	19	1		1	FAM71B	5	156590151	Silent	SNP	C	TCGA-HT-8104-01A-11D-2395-08	5665812	156590151	24325109	34	28872											
EBF1	1879	broad.mit.edu	37	5	158158158	158158158	+	Silent	SNP	G	G	A	rs146276323		TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr5:158158158G>A	ENST00000313708.6	-	11	1326	c.1044C>T	c.(1042-1044)aaC>aaT	p.N348N	EBF1_ENST00000517373.1_Silent_p.N340N|EBF1_ENST00000518836.1_5'UTR|EBF1_ENST00000380654.4_Silent_p.N317N	NM_024007.3	NP_076870.1	Q9UH73	COE1_HUMAN	early B-cell factor 1	348					multicellular organismal development	nucleus	DNA binding|metal ion binding		HMGA2/EBF1(2)	breast(3)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TGGTGGGTTCGTTGAGCGCTG	0.448			T	HMGA2	lipoma								10	32					0	0	1	0	0	A	158158158	G	A	158158158	2	1	297	1	0	0	0	0	0	0	0	1	4906	1136	40	1		1	EBF1	5	158158158	Silent	SNP	G	TCGA-HT-8104-01A-11D-2395-08	1568007	158158158	22757102	35	28873											
TLX3	30012	broad.mit.edu	37	5	170738554	170738554	+	Missense_Mutation	SNP	C	C	A			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr5:170738554C>A	ENST00000296921.5	+	3	909	c.827C>A	c.(826-828)cCc>cAc	p.P276H		NM_021025.2	NP_066305.2	O43711	TLX3_HUMAN	T-cell leukemia homeobox 3	276						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)	1	Renal(175;0.000159)|Lung NSC(126;0.00576)|all_lung(126;0.00963)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			AATCTGCAGCCCTGGGAGGAG	0.637			T	BCL11B	T-ALL								11	15					4.3838e-07	4.67364e-07	1	1	0	A	170738554	C	A	170738554	3	1	297	1	0	0	0	0	1	0	0	0	16022	623	22	5	837	5	TLX3	5	170738554	Missense_Mutation	SNP	C	TCGA-HT-8104-01A-11D-2395-08	12580396	170738554	10176706	36	28874											
KHDRBS2	202559	broad.mit.edu	37	6	62611199	62611199	+	Silent	SNP	G	G	A			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr6:62611199G>A	ENST00000281156.4	-	5	839	c.561C>T	c.(559-561)ggC>ggT	p.G187G		NM_152688.2	NP_689901.2	Q5VWX1	KHDR2_HUMAN	KH domain containing, RNA binding, signal transduction associated 2	187					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	SH3 domain binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1)	49				BRCA - Breast invasive adenocarcinoma(397;0.149)		TAATACCTCTGCCACGACCAG	0.403													4	121					0	0	1	0	0	A	62611199	G	A	62611199	2	1	297	1	0	0	0	0	0	0	0	1	8189	1306	46	2		2	KHDRBS2	6	62611199	Silent	SNP	G	TCGA-HT-8104-01A-11D-2395-08		62611199	108503868	37	28875											
RNGTT	8732	broad.mit.edu	37	6	89511325	89511325	+	Missense_Mutation	SNP	T	T	G			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr6:89511325T>G	ENST00000369485.4	-	12	1482	c.1296A>C	c.(1294-1296)gaA>gaC	p.E432D	RNGTT_ENST00000538899.1_Intron|RNGTT_ENST00000369475.3_Missense_Mutation_p.E432D|RNGTT_ENST00000265607.6_Intron	NM_003800.3	NP_003791.3	O60942	MCE1_HUMAN	RNA guanylyltransferase and 5'-phosphatase	432	GTase.				interspecies interaction between organisms|mRNA capping|transcription from RNA polymerase II promoter|viral reproduction	nucleoplasm	GTP binding|mRNA guanylyltransferase activity|polynucleotide 5'-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	21		all_cancers(76;4.07e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;6.86e-05)		BRCA - Breast invasive adenocarcinoma(108;0.151)		CATGGCTCACTTCTTTGGCAA	0.323													3	57					0	0	1	0	0	G	89511325	T	G	89511325	3	3	297	1	0	0	0	0	1	0	0	0	13555	1606	56	5	517	5	RNGTT	6	89511325	Missense_Mutation	SNP	T	TCGA-HT-8104-01A-11D-2395-08	26900126	89511325	81603742	38	28876											
NMBR	4829	broad.mit.edu	37	6	142397176	142397176	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr6:142397176C>T	ENST00000258042.1	-	3	922	c.782G>A	c.(781-783)cGg>cAg	p.R261Q		NM_002511.2	NP_002502.2	P28336	NMBR_HUMAN	neuromedin B receptor	261					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	cytoplasm|integral to plasma membrane	bombesin receptor activity			breast(2)|central_nervous_system(3)|endometrium(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23	Breast(32;0.155)			OV - Ovarian serous cystadenocarcinoma(155;9.93e-06)|GBM - Glioblastoma multiforme(68;0.0013)		CAGGCGTTTCCGTGTTTCCAT	0.378													24	50					0	0	1	0	0	T	142397176	C	T	142397176	3	4	297	1	0	0	0	0	1	0	0	0	10534	652	23	1	394	1	NMBR	6	142397176	Missense_Mutation	SNP	C	TCGA-HT-8104-01A-11D-2395-08	52885851	142397176	28717891	39	28877											
EGFR	1956	broad.mit.edu	37	7	55241722	55241722	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr7:55241722G>A	ENST00000275493.2	+	18	2347	c.2170G>A	c.(2170-2172)Ggc>Agc	p.G724S	EGFR_ENST00000455089.1_Missense_Mutation_p.G679S|EGFR_ENST00000442591.1_Intron|EGFR_ENST00000454757.2_Missense_Mutation_p.G671S	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	724	Protein kinase.		G -> S (found in a lung cancer sample).		activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.G724S(3)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	CGGTGCGTTCGGCACGGTGTA	0.562		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			123	1881					0	0	1	0	0	A	55241722	G	A	55241722	3	1	297	1	0	0	0	0	1	0	0	0	4993	1116	39	1	2504	1	EGFR	7	55241722	Missense_Mutation	SNP	G	TCGA-HT-8104-01A-11D-2395-08		55241722	103896941	40	28878											
EGFR	1956	broad.mit.edu	37	7	55260473	55260473	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr7:55260473G>A	ENST00000275493.2	+	22	2817	c.2640G>A	c.(2638-2640)tgG>tgA	p.W880*	EGFR_ENST00000455089.1_Nonsense_Mutation_p.W835*|EGFR_ENST00000442591.1_Intron|EGFR_ENST00000454757.2_Nonsense_Mutation_p.W827*	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	880	Protein kinase.				activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	CTATCAAGTGGATGGCATTGG	0.433		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			44	1857					0	0	1	0	0	A	55260473	G	A	55260473	4	1	297	1	0	0	0	0	0	1	0	0	4993	1183	41	2	2990	2	EGFR	7	55260473	Nonsense_Mutation	SNP	G	TCGA-HT-8104-01A-11D-2395-08	18751	55260473	103878190	41	28879											
ZC3HAV1L	92092	broad.mit.edu	37	7	138713589	138713589	+	Missense_Mutation	SNP	A	A	T			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr7:138713589A>T	ENST00000275766.1	-	3	630	c.619T>A	c.(619-621)Tgc>Agc	p.C207S		NM_080660.3	NP_542391.2	Q96H79	ZCCHL_HUMAN	zinc finger CCCH-type, antiviral 1-like	207										NS(2)|endometrium(2)|large_intestine(1)|lung(4)|skin(1)	10						GACCGTTTGCAGGTCTGAAGT	0.433													3	87					0	0	1	0	0	T	138713589	A	T	138713589	3	4	297	1	0	0	0	0	1	0	0	0	17635	188	7	5	295	5	ZC3HAV1L	7	138713589	Missense_Mutation	SNP	A	TCGA-HT-8104-01A-11D-2395-08	83453116	138713589	20425074	42	28880											
RP1	6101	broad.mit.edu	37	8	55534023	55534023	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr8:55534023C>T	ENST00000220676.1	+	2	645	c.497C>T	c.(496-498)aCg>aTg	p.T166M		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	166	Doublecortin 2.				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	p.T166M(1)		NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			GACCCGAAGACGAGGCGTGCG	0.642													48	98					0	0	1	0	0	T	55534023	C	T	55534023	3	4	297	1	0	0	0	0	1	0	0	0	13584	536	19	1	499	1	RP1	8	55534023	Missense_Mutation	SNP	C	TCGA-HT-8104-01A-11D-2395-08		55534023	90829999	43	28881											
CA13	377677	broad.mit.edu	37	8	86180769	86180769	+	Silent	SNP	A	A	G	rs143754749		TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr8:86180769A>G	ENST00000321764.3	+	6	884	c.582A>G	c.(580-582)acA>acG	p.T194T	CA13_ENST00000517298.1_3'UTR	NM_198584.2	NP_940986.1	Q8N1Q1	CAH13_HUMAN	carbonic anhydrase XIII	194					one-carbon metabolic process		carbonate dehydratase activity|zinc ion binding			large_intestine(1)|lung(6)	7						ACTACTGGACATATCCTGGTT	0.403													7	137					0	0	1	0	0	G	86180769	A	G	86180769	2	3	297	1	0	0	0	0	0	0	0	1	2532	204	8	3		3	CA13	8	86180769	Silent	SNP	A	TCGA-HT-8104-01A-11D-2395-08	30646746	86180769	60183253	44	28882											
PARP10	84875	broad.mit.edu	37	8	145057683	145057683	+	Missense_Mutation	SNP	G	G	A	rs146697146	byFrequency	TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr8:145057683G>A	ENST00000313028.7	-	8	2168	c.2074C>T	c.(2074-2076)Ccg>Tcg	p.P692S	PARP10_ENST00000524918.1_Missense_Mutation_p.P683S|PARP10_ENST00000525773.1_Missense_Mutation_p.P704S	NM_032789.3	NP_116178.2	Q53GL7	PAR10_HUMAN	poly (ADP-ribose) polymerase family, member 10	692	Glu-rich.					Golgi apparatus|nucleolus	NAD+ ADP-ribosyltransferase activity|nucleotide binding			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(2)	27	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GCCTCCAACGGGGGCTGCTCC	0.677													6	23					0	0	1	0	0	A	145057683	G	A	145057683	3	1	297	1	0	0	0	0	1	0	0	0	11502	1232	43	2	1019	2	PARP10	8	145057683	Missense_Mutation	SNP	G	TCGA-HT-8104-01A-11D-2395-08	58876914	145057683	1306339	45	28883											
PGM5	5239	broad.mit.edu	37	9	70993121	70993121	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr9:70993121C>T	ENST00000396396.1	+	2	497	c.268C>T	c.(268-270)Cga>Tga	p.R90*	PGM5_ENST00000604870.2_3'UTR|PGM5_ENST00000396392.1_Nonsense_Mutation_p.R90*	NM_021965.3	NP_068800.2	Q15124	PGM5_HUMAN	phosphoglucomutase 5	90					cell adhesion|cellular calcium ion homeostasis|glucose metabolic process	costamere|dystrophin-associated glycoprotein complex|focal adhesion|intercalated disc|internal side of plasma membrane|sarcolemma|spot adherens junction|stress fiber|Z disc	intramolecular transferase activity, phosphotransferases|magnesium ion binding|structural molecule activity			endometrium(5)|kidney(1)|large_intestine(5)|liver(2)|lung(15)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	34						TTAGATTGGACGACTGATTAT	0.443													20	56					0	0	1	0	0	T	70993121	C	T	70993121	4	4	297	1	0	0	0	0	0	1	0	0	11849	528	19	1	274	1	PGM5	9	70993121	Nonsense_Mutation	SNP	C	TCGA-HT-8104-01A-11D-2395-08		70993121	70220310	46	28884											
ZBTB6	10773	broad.mit.edu	37	9	125674357	125674357	+	Translation_Start_Site	SNP	C	C	T			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr9:125674357C>T	ENST00000373659.3	-	0	83					NM_006626.5	NP_006617.1	Q15916	ZBTB6_HUMAN	zinc finger and BTB domain containing 6						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(1)|skin(1)	11						GCCATGATCACAATCTAAGCA	0.373													36	54					0	0	1	0	0	T	125674357	C	T	125674357	1	4	297	1	0	0	0	0	0	0	0	0	17611	493	17	2		2	ZBTB6	9	125674357	Translation_Start_Site	SNP	C	TCGA-HT-8104-01A-11D-2395-08	54681236	125674357	15539074	47	28885											
GOLGA2	2801	broad.mit.edu	37	9	131019389	131019390	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr9:131019389_131019390insA	ENST00000421699.2	-	26	2977_2978	c.2965_2966insT	c.(2965-2967)tacfs	p.Y989fs	GOLGA2_ENST00000609374.1_Frame_Shift_Ins_p.Y977fs	NM_004486.4	NP_004477.3	Q08379	GOGA2_HUMAN	golgin A2	989						Golgi cisterna membrane	protein binding	p.Y977fs*9(2)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34						GTCAGCCCGGTAAAAAAAAGGA	0.564													7	220	---	---	---	---						A	131019390	-	A	131019389	7	5	297	1	0	1	1	0	0	0	0	0	6594	1638	57	0	46	0	GOLGA2	9	131019389	Frame_Shift_Ins	INS	-	TCGA-HT-8104-01A-11D-2395-08	5345032	131019389	10194042	48	28886											
PTEN	5728	broad.mit.edu	37	10	89624301	89624301	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr10:89624301G>T	ENST00000371953.3	+	1	1432	c.75G>T	c.(73-75)ttG>ttT	p.L25F		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	25	Phosphatase tensin-type.				activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.?(13)|p.L25fs*28(1)|p.L25F(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		ACTTAGACTTGACCTGTATCC	0.458		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			38	28					1.30015e-28	1.44586e-28	1	1	0	T	89624301	G	T	89624301	3	4	297	1	0	0	0	0	1	0	0	0	12787	1281	45	5	77	5	PTEN	10	89624301	Missense_Mutation	SNP	G	TCGA-HT-8104-01A-11D-2395-08		89624301	45910446	49	28887											
DMBT1	1755	broad.mit.edu	37	10	124345695	124345695	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr10:124345695G>A	ENST00000338354.3	+	16	1685	c.1579G>A	c.(1579-1581)Gat>Aat	p.D527N	DMBT1_ENST00000344338.3_Missense_Mutation_p.D517N|DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000368955.3_Missense_Mutation_p.D517N|DMBT1_ENST00000368909.3_Missense_Mutation_p.D527N|DMBT1_ENST00000330163.4_Intron|DMBT1_ENST00000368956.2_Intron			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	527	SRCR 4.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding	p.D527Y(3)		breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				GGACACCAATGATGCCAATGT	0.612													6	323					0	0	1	0	0	A	124345695	G	A	124345695	3	1	297	1	0	0	0	0	1	0	0	0	4605	1290	45	2	1641	2	DMBT1	10	124345695	Missense_Mutation	SNP	G	TCGA-HT-8104-01A-11D-2395-08	34721394	124345695	11189052	50	28888											
MUC6	4588	broad.mit.edu	37	11	1026378	1026378	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr11:1026378G>A	ENST00000421673.2	-	20	2545	c.2495C>T	c.(2494-2496)tCg>tTg	p.S832L		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	832					maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GGAGACCCCCGAGAACTCACA	0.652													17	22					0	0	1	0	0	A	1026378	G	A	1026378	3	1	297	1	0	0	0	0	1	0	0	0	10028	1059	37	1	4880	1	MUC6	11	1026378	Missense_Mutation	SNP	G	TCGA-HT-8104-01A-11D-2395-08		1026378	133980138	51	28889											
ST3GAL4	6484	broad.mit.edu	37	11	126278294	126278294	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr11:126278294C>G	ENST00000526727.1	+	7	904	c.530C>G	c.(529-531)cCc>cGc	p.P177R	ST3GAL4_ENST00000444328.2_Missense_Mutation_p.P177R|ST3GAL4_ENST00000449406.2_Missense_Mutation_p.P166R|ST3GAL4_ENST00000534457.1_Missense_Mutation_p.P172R|ST3GAL4_ENST00000392669.2_Missense_Mutation_p.P177R|ST3GAL4_ENST00000356132.4_Missense_Mutation_p.P183R|ST3GAL4_ENST00000227495.6_Missense_Mutation_p.P173R|ST3GAL4_ENST00000532243.1_Missense_Mutation_p.P176R|ST3GAL4_ENST00000530591.1_Missense_Mutation_p.P173R|ST3GAL4_ENST00000534083.1_Missense_Mutation_p.P177R|ST3GAL4_ENST00000526756.1_3'UTR			Q11206	SIA4C_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 4	177					post-translational protein modification|protein N-linked glycosylation via asparagine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,3-sialyltransferase activity			endometrium(1)|large_intestine(2)|lung(5)|stomach(1)	9	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0739)|all_lung(97;0.0798)|all_neural(223;0.138)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0767)		CACTTCGACCCCAAAGTAGAA	0.532													3	91					0	0	1	0	0	G	126278294	C	G	126278294	3	3	297	1	0	0	0	0	1	0	0	0	15273	623	22	5	544	5	ST3GAL4	11	126278294	Missense_Mutation	SNP	C	TCGA-HT-8104-01A-11D-2395-08	125251916	126278294	8728222	52	28890											
CACNA2D4	93589	broad.mit.edu	37	12	1995491	1995491	+	Silent	SNP	G	G	A			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr12:1995491G>A	ENST00000382722.5	-	8	1253	c.891C>T	c.(889-891)gaC>gaT	p.D297D	CACNA2D4_ENST00000587995.1_Silent_p.D297D|CACNA2D4_ENST00000585708.1_Silent_p.D233D|CACNA2D4_ENST00000588077.1_Silent_p.D233D|CACNA2D4_ENST00000585732.1_Intron|CACNA2D4_ENST00000586184.1_Silent_p.D297D	NM_172364.4	NP_758952.4	Q7Z3S7	CA2D4_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 4	297	VWFA.					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		TGCCGCTCACGTCCACCAAAA	0.488													28	41					0	0	1	0	0	A	1995491	G	A	1995491	2	1	297	1	0	0	0	0	0	0	0	1	2569	1136	40	1		1	CACNA2D4	12	1995491	Silent	SNP	G	TCGA-HT-8104-01A-11D-2395-08		1995491	131856404	53	28891											
DIP2B	57609	broad.mit.edu	37	12	51086786	51086786	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr12:51086786G>A	ENST00000301180.5	+	14	1743	c.1709G>A	c.(1708-1710)gGc>gAc	p.G570D		NM_173602.2	NP_775873.2	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B (Drosophila)	570						nucleus	catalytic activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						CTGTGGCACGGCATGTTTGCG	0.388													3	64					0	0	1	0	0	A	51086786	G	A	51086786	3	1	297	1	0	0	0	0	1	0	0	0	4556	1203	42	2	1763	2	DIP2B	12	51086786	Missense_Mutation	SNP	G	TCGA-HT-8104-01A-11D-2395-08	49091295	51086786	82765109	54	28892											
TRHDE	29953	broad.mit.edu	37	12	72893328	72893328	+	Silent	SNP	C	C	T			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr12:72893328C>T	ENST00000261180.4	+	6	1596	c.1500C>T	c.(1498-1500)gaC>gaT	p.D500D		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	500					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	p.D500D(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						TGCTGCTGGACGGTTTGGCCA	0.458													34	50					0	0	1	0	0	T	72893328	C	T	72893328	2	4	297	1	0	0	0	0	0	0	0	1	16540	535	19	1		1	TRHDE	12	72893328	Silent	SNP	C	TCGA-HT-8104-01A-11D-2395-08	21806542	72893328	60958567	55	28893											
SLC6A15	55117	broad.mit.edu	37	12	85267059	85267059	+	Missense_Mutation	SNP	C	C	A			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr12:85267059C>A	ENST00000266682.5	-	7	1457	c.916G>T	c.(916-918)Gtg>Ttg	p.V306L	SLC6A15_ENST00000309283.7_Missense_Mutation_p.V14L|SLC6A15_ENST00000551388.1_Intron|SLC6A15_ENST00000552192.1_Missense_Mutation_p.V199L	NM_182767.5	NP_877499.1	Q9H2J7	S6A15_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 15	306					cellular nitrogen compound metabolic process|leucine transport|proline transport	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			kidney(1)|large_intestine(18)|lung(15)|ovary(1)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	44						GCAAAGAACACTTGAGTAGCA	0.403													5	158					0.217242	0.218939	1	1	0	A	85267059	C	A	85267059	3	1	297	1	0	0	0	0	1	0	0	0	14733	565	20	4	1300	4	SLC6A15	12	85267059	Missense_Mutation	SNP	C	TCGA-HT-8104-01A-11D-2395-08	12373731	85267059	48584836	56	28894											
WSCD2	9671	broad.mit.edu	37	12	108589925	108589925	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr12:108589925G>A	ENST00000332082.4	+	3	1134	c.316G>A	c.(316-318)Gac>Aac	p.D106N	WSCD2_ENST00000549903.1_Missense_Mutation_p.D106N|WSCD2_ENST00000547525.1_Missense_Mutation_p.D106N|WSCD2_ENST00000261400.3_Missense_Mutation_p.D106N			Q2TBF2	WSCD2_HUMAN	WSC domain containing 2	106						integral to membrane				breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	57						CAAGCTTGGCGACTACGGTGG	0.607													31	54					0	0	1	0	0	A	108589925	G	A	108589925	3	1	297	1	0	0	0	0	1	0	0	0	17467	1058	37	1	318	1	WSCD2	12	108589925	Missense_Mutation	SNP	G	TCGA-HT-8104-01A-11D-2395-08	23322866	108589925	25261970	57	28895											
FARP1	10160	broad.mit.edu	37	13	99083337	99083337	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr13:99083337A>G	ENST00000376586.2	+	18	2282	c.1946A>G	c.(1945-1947)gAg>gGg	p.E649G	FARP1_ENST00000595437.1_Missense_Mutation_p.E649G|FARP1_ENST00000319562.6_Missense_Mutation_p.E649G			Q9Y4F1	FARP1_HUMAN	FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)	649	DH.				regulation of Rho protein signal transduction	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity			breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			GAGGCCTTGGAGGCCCTGGAG	0.582													3	73					0	0	1	0	0	G	99083337	A	G	99083337	3	3	297	1	0	0	0	0	1	0	0	0	5709	304	11	3	2235	3	FARP1	13	99083337	Missense_Mutation	SNP	A	TCGA-HT-8104-01A-11D-2395-08		99083337	16086541	58	28896											
ADCY4	196883	broad.mit.edu	37	14	24793338	24793338	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr14:24793338C>T	ENST00000310677.4	-	17	2089	c.1976G>A	c.(1975-1977)cGa>cAa	p.R659Q	ADCY4_ENST00000396747.3_Missense_Mutation_p.R352Q|ADCY4_ENST00000554068.2_Missense_Mutation_p.R659Q|ADCY4_ENST00000418030.2_Missense_Mutation_p.R659Q	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	659					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding|protein binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(265;0.0192)		CAGTCCTGGTCGTGTGGCCAC	0.622													18	46					0	0	1	0	0	T	24793338	C	T	24793338	3	4	297	1	0	0	0	0	1	0	0	0	295	884	31	1	1297	1	ADCY4	14	24793338	Missense_Mutation	SNP	C	TCGA-HT-8104-01A-11D-2395-08		24793338	82556202	59	28897											
PML	5371	broad.mit.edu	37	15	74315324	74315324	+	Missense_Mutation	SNP	C	C	A			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr15:74315324C>A	ENST00000565898.1	+	3	842	c.758C>A	c.(757-759)gCc>gAc	p.A253D	PML_ENST00000435786.2_Missense_Mutation_p.A253D|PML_ENST00000268058.3_Missense_Mutation_p.A253D|PML_ENST00000569477.1_Missense_Mutation_p.A253D|PML_ENST00000436891.3_Missense_Mutation_p.A253D|PML_ENST00000395135.3_Missense_Mutation_p.A253D|PML_ENST00000268059.6_Missense_Mutation_p.A253D|PML_ENST00000569161.1_3'UTR|PML_ENST00000567543.1_Missense_Mutation_p.A253D|PML_ENST00000569965.1_Missense_Mutation_p.A253D|PML_ENST00000395132.2_Missense_Mutation_p.A253D|PML_ENST00000563500.1_Missense_Mutation_p.A253D|PML_ENST00000354026.6_Missense_Mutation_p.A253D|PML_ENST00000359928.4_Missense_Mutation_p.A253D|PML_ENST00000564428.1_Missense_Mutation_p.A253D			P29590	PML_HUMAN	promyelocytic leukemia	253					cell cycle arrest|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 resulting in induction of apoptosis|endoplasmic reticulum calcium ion homeostasis|induction of apoptosis|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|maintenance of protein location in nucleus|negative regulation of angiogenesis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of mitotic cell cycle|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|negative regulation of telomerase activity|negative regulation of telomere maintenance via telomerase|negative regulation of transcription, DNA-dependent|negative regulation of translation in response to oxidative stress|PML body organization|positive regulation of defense response to virus by host|positive regulation of histone deacetylation|protein complex assembly|protein stabilization|protein targeting|regulation of calcium ion transport into cytosol|regulation of protein phosphorylation|response to hypoxia|response to virus|transcription, DNA-dependent	cytoplasm|cytosol|early endosome membrane|extrinsic to endoplasmic reticulum membrane|insoluble fraction|nuclear matrix|nuclear membrane|nucleolus|nucleus|PML body	cobalt ion binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|SUMO binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	31						CAGGATAGTGCCTTTGGCGCG	0.687			T	"RARA, PAX5"	"APL, ALL"								13	20					4.3838e-07	4.67364e-07	1	1	0	A	74315324	C	A	74315324	3	1	297	1	0	0	0	0	1	0	0	0	12183	739	26	5	768	5	PML	15	74315324	Missense_Mutation	SNP	C	TCGA-HT-8104-01A-11D-2395-08		74315324	28216068	60	28898											
CYP1A2	1544	broad.mit.edu	37	15	75042332	75042332	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr15:75042332G>A	ENST00000343932.4	+	2	316	c.253G>A	c.(253-255)Gtg>Atg	p.V85M		NM_000761.3	NP_000752.2	P05177	CP1A2_HUMAN	cytochrome P450, family 1, subfamily A, polypeptide 2	85					alkaloid metabolic process|exogenous drug catabolic process|methylation|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative deethylation|oxidative demethylation|steroid catabolic process|toxin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|demethylase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33					Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Aciclovir(DB00787)|Alosetron(DB00969)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Anagrelide(DB00261)|Azelastine(DB00972)|Bortezomib(DB00188)|Caffeine(DB00201)|Carmustine(DB00262)|Chlordiazepoxide(DB00475)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Ciprofloxacin(DB00537)|Clomipramine(DB01242)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Desloratadine(DB00967)|Diazepam(DB00829)|Dibucaine(DB00527)|Diclofenac(DB00586)|Duloxetine(DB00476)|Enoxacin(DB00467)|Esomeprazole(DB00736)|Estradiol(DB00783)|Estrone(DB00655)|Fluorouracil(DB00544)|Flutamide(DB00499)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Grepafloxacin(DB00365)|Haloperidol(DB00502)|Hesperetin(DB01094)|Imipramine(DB00458)|Ketoconazole(DB01026)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Melatonin(DB01065)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mirtazapine(DB00370)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pefloxacin(DB00487)|Pimozide(DB01100)|Propafenone(DB01182)|Propranolol(DB00571)|Quinidine(DB00908)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifampin(DB01045)|Riluzole(DB00740)|Rofecoxib(DB00533)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Tacrine(DB00382)|Telithromycin(DB00976)|Terfenadine(DB00342)|Theophylline(DB00277)|Thiabendazole(DB00730)|Tizanidine(DB00697)|Tolbutamide(DB01124)|Verapamil(DB00661)|Warfarin(DB00682)|Zileuton(DB00744)|Zolmitriptan(DB00315)	CTCCACGCCCGTGCTGGTGCT	0.667													30	57					0	0	1	0	0	A	75042332	G	A	75042332	3	1	297	1	0	0	0	0	1	0	0	0	4173	1145	40	1	255	1	CYP1A2	15	75042332	Missense_Mutation	SNP	G	TCGA-HT-8104-01A-11D-2395-08	727008	75042332	27489060	61	28899											
IREB2	3658	broad.mit.edu	37	15	78778046	78778046	+	Splice_Site	SNP	G	G	A			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr15:78778046G>A	ENST00000258886.8	+	13	1722		c.e13-1			NM_004136.2	NP_004127	P48200	IREB2_HUMAN	iron-responsive element binding protein 2								4 iron, 4 sulfur cluster binding|metal ion binding|protein binding			central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	41				UCEC - Uterine corpus endometrioid carcinoma (272;0.232)		TGGCTGTGCAGGTCTTTTGGC	0.363													3	150					0	0	1	0	0	A	78778046	G	A	78778046	5	1	297	1	0	0	0	0	0	0	1	0	7870	1014	35	2	1623	2	IREB2	15	78778046	Splice_Site	SNP	G	TCGA-HT-8104-01A-11D-2395-08	3735714	78778046	23753346	62	28900											
ASB7	140460	broad.mit.edu	37	15	101170214	101170214	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr15:101170214C>T	ENST00000332783.7	+	5	1569	c.784C>T	c.(784-786)Cga>Tga	p.R262*	ASB7_ENST00000343276.4_Nonsense_Mutation_p.R262*|ASB7_ENST00000558747.1_Intron	NM_198243.2	NP_937886.1	Q9H672	ASB7_HUMAN	ankyrin repeat and SOCS box containing 7	262					intracellular signal transduction					breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)|skin(2)	16	Lung NSC(78;0.00121)|all_lung(78;0.00152)|Melanoma(26;0.00852)		OV - Ovarian serous cystadenocarcinoma(32;0.00168)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103)			TGGAAGTAGTCGACCATGTTT	0.358													30	46					0	0	1	0	0	T	101170214	C	T	101170214	4	4	297	1	0	0	0	0	0	1	0	0	1027	876	31	1	790	1	ASB7	15	101170214	Nonsense_Mutation	SNP	C	TCGA-HT-8104-01A-11D-2395-08	22392168	101170214	1361178	63	28901											
IFT140	9742	broad.mit.edu	37	16	1568282	1568282	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr16:1568282T>C	ENST00000426508.2	-	30	4480	c.4117A>G	c.(4117-4119)Atc>Gtc	p.I1373V	IFT140_ENST00000361339.5_Missense_Mutation_p.I567V	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN	intraflagellar transport 140 homolog (Chlamydomonas)	1373										breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				CCGATGCGGATGGTGCTGTCC	0.602													20	37					0	0	1	0	0	C	1568282	T	C	1568282	3	2	297	1	0	0	0	0	1	0	0	0	7600	1464	51	3	279	3	IFT140	16	1568282	Missense_Mutation	SNP	T	TCGA-HT-8104-01A-11D-2395-08		1568282	88786471	64	28902											
DNAH3	55567	broad.mit.edu	37	16	21049263	21049263	+	Silent	SNP	C	C	T			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr16:21049263C>T	ENST00000261383.3	-	34	4769	c.4770G>A	c.(4768-4770)tcG>tcA	p.S1590S	DNAH3_ENST00000415178.1_Silent_p.S1590S	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1590	AAA 1 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		ACAGTTGTTCCGAGCACAGGC	0.547													16	29					0	0	1	0	0	T	21049263	C	T	21049263	2	4	297	1	0	0	0	0	0	0	0	1	4631	639	23	1		1	DNAH3	16	21049263	Silent	SNP	C	TCGA-HT-8104-01A-11D-2395-08	19480981	21049263	69305490	65	28903											
HIRIP3	8479	broad.mit.edu	37	16	30006762	30006762	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr16:30006762G>A	ENST00000279392.3	-	2	918	c.88C>T	c.(88-90)Cgg>Tgg	p.R30W	INO80E_ENST00000563197.1_5'UTR|HIRIP3_ENST00000566471.1_Intron|HIRIP3_ENST00000564026.1_Missense_Mutation_p.R30W	NM_003609.4	NP_003600.2	Q9BW71	HIRP3_HUMAN	HIRA interacting protein 3	30					chromatin assembly or disassembly	nucleus	protein binding			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(9)	17						TACCTCCGCCGCACGATGGAA	0.652													3	85					0	0	1	0	0	A	30006762	G	A	30006762	3	1	297	1	0	0	0	0	1	0	0	0	7162	1086	38	1	1606	1	HIRIP3	16	30006762	Missense_Mutation	SNP	G	TCGA-HT-8104-01A-11D-2395-08	8957499	30006762	60347991	66	28904											
AMFR	267	broad.mit.edu	37	16	56396893	56396893	+	Silent	SNP	G	G	A			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr16:56396893G>A	ENST00000290649.5	-	14	2070	c.1860C>T	c.(1858-1860)gaC>gaT	p.D620D		NM_001144.5	NP_001135.3	Q9UKV5	AMFR2_HUMAN	autocrine motility factor receptor, E3 ubiquitin protein ligase	620					endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|protein oligomerization|protein polyubiquitination	integral to endoplasmic reticulum membrane|integral to membrane of membrane fraction	protein binding|receptor activity|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17						GGGTCACGGGGTCAGAGGACG	0.567													29	16					0	0	1	0	0	A	56396893	G	A	56396893	2	1	297	1	0	0	0	0	0	0	0	1	567	1252	44	2		2	AMFR	16	56396893	Silent	SNP	G	TCGA-HT-8104-01A-11D-2395-08	26390131	56396893	33957860	67	28905											
MYH13	8735	broad.mit.edu	37	17	10223518	10223518	+	Silent	SNP	G	G	A			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr17:10223518G>A	ENST00000418404.3	-	25	3463	c.3300C>T	c.(3298-3300)gaC>gaT	p.D1100D	MYH13_ENST00000252172.4_Silent_p.D1100D			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1100					muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						GGACTTGTTCGTCATCTATTT	0.388													6	11					0	0	1	0	0	A	10223518	G	A	10223518	2	1	297	1	0	0	0	0	0	0	0	1	10080	1136	40	1		1	MYH13	17	10223518	Silent	SNP	G	TCGA-HT-8104-01A-11D-2395-08		10223518	70971692	68	28906											
MYH13	8735	broad.mit.edu	37	17	10248554	10248554	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr17:10248554delT	ENST00000418404.3	-	14	1712	c.1549delA	c.(1549-1551)atgfs	p.M517fs	MYH13_ENST00000252172.4_Frame_Shift_Del_p.M517fs			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	517	Myosin head-like.				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						GCCAGGTCCATTCCGAAGTCA	0.522													13	181	---	---	---	---						-	10248554	T	-	10248554	7	5	297	1	0	1	0	1	0	0	0	0	10080	1493	52	0	4375	0	MYH13	17	10248554	Frame_Shift_Del	DEL	T	TCGA-HT-8104-01A-11D-2395-08	25036	10248554	70946656	69	28907											
SUZ12	23512	broad.mit.edu	37	17	30303572	30303572	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr17:30303572C>T	ENST00000322652.5	+	8	1085	c.856C>T	c.(856-858)Cga>Tga	p.R286*	SUZ12_ENST00000580398.1_Nonsense_Mutation_p.R263*	NM_015355.2	NP_056170.2	Q15022	SUZ12_HUMAN	SUZ12 polycomb repressive complex 2 subunit	286					negative regulation of cell differentiation|transcription, DNA-dependent	ESC/E(Z) complex	histone methyltransferase activity|methylated histone residue binding|zinc ion binding	p.R286*(1)	SSH2/SUZ12(2)|JAZF1/SUZ12(133)	breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(5)|skin(1)	21		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.041)|Ovarian(249;0.182)|Breast(31;0.231)				CAGAAGAAAACGAAATCGTGA	0.343			T	JAZF1	endometrial stromal tumours								3	49					0	0	1	0	0	T	30303572	C	T	30303572	4	4	297	1	0	0	0	0	0	1	0	0	15472	528	19	1	886	1	SUZ12	17	30303572	Nonsense_Mutation	SNP	C	TCGA-HT-8104-01A-11D-2395-08	20055018	30303572	50891638	70	28908											
KRT16	3868	broad.mit.edu	37	17	39768742	39768742	+	Missense_Mutation	SNP	C	C	T	rs62066634	byFrequency	TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr17:39768742C>T	ENST00000301653.4	-	1	263	c.199G>A	c.(199-201)Ggc>Agc	p.G67S		NM_005557.3	NP_005548.2	P08779	K1C16_HUMAN	keratin 16	67	Head.				cell proliferation|epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		Breast(137;0.000307)				CCGCCATAGCCGCCCCCCAGC	0.692													5	14					0	0	1	0	0	T	39768742	C	T	39768742	3	4	297	1	0	0	0	0	1	0	0	0	8496	652	23	1	1254	1	KRT16	17	39768742	Missense_Mutation	SNP	C	TCGA-HT-8104-01A-11D-2395-08	9465170	39768742	41426468	71	28909											
ARHGAP28	79822	broad.mit.edu	37	18	6873483	6873483	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr18:6873483C>T	ENST00000419673.2	+	7	770	c.553C>T	c.(553-555)Cgc>Tgc	p.R185C	ARHGAP28_ENST00000314319.3_Missense_Mutation_p.R185C|ARHGAP28_ENST00000532996.1_Missense_Mutation_p.R167C|RP11-146G7.2_ENST00000583659.1_RNA|ARHGAP28_ENST00000383472.4_Missense_Mutation_p.R344C|ARHGAP28_ENST00000418986.1_Missense_Mutation_p.R185C|ARHGAP28_ENST00000531294.1_Missense_Mutation_p.R180C|ARHGAP28_ENST00000400091.2_Missense_Mutation_p.R344C|ARHGAP28_ENST00000262227.3_Missense_Mutation_p.R292C	NM_001010000.2	NP_001010000.1	B4DXL2	B4DXL2_HUMAN	Rho GTPase activating protein 28	167					signal transduction	intracellular				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	37		Colorectal(10;0.168)				GAAGAAAATCCGCCATCTCTC	0.368													3	94					0	0	1	0	0	T	6873483	C	T	6873483	3	4	297	1	0	0	0	0	1	0	0	0	874	652	23	1	575	1	ARHGAP28	18	6873483	Missense_Mutation	SNP	C	TCGA-HT-8104-01A-11D-2395-08		6873483	71203765	72	28910											
GATA6	2627	broad.mit.edu	37	18	19751314	19751314	+	Missense_Mutation	SNP	C	C	A			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr18:19751314C>A	ENST00000269216.3	+	2	486	c.209C>A	c.(208-210)gCg>gAg	p.A70E	GATA6_ENST00000581694.1_Missense_Mutation_p.A70E	NM_005257.4	NP_005248.2	Q92908	GATA6_HUMAN	GATA binding protein 6	70					blood coagulation|cardiac vascular smooth muscle cell differentiation|cellular response to hypoxia|intestinal epithelial cell differentiation|male gonad development|negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor-beta1 production|negative regulation of transforming growth factor-beta2 production|outflow tract septum morphogenesis|positive regulation of angiogenesis|positive regulation of cell cycle arrest|positive regulation of transcription from RNA polymerase II promoter|response to drug|response to growth factor stimulus		protein binding|protein kinase binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	18	all_cancers(21;0.00271)|all_epithelial(16;7.31e-05)|Ovarian(2;0.116)|Lung NSC(20;0.123)|all_lung(20;0.246)		STAD - Stomach adenocarcinoma(5;0.106)			ACGGAGGCGGCGGCCGGACCC	0.761													6	17					5.9392e-07	6.27997e-07	1	1	0	A	19751314	C	A	19751314	3	1	297	1	0	0	0	0	1	0	0	0	6298	768	27	5	211	5	GATA6	18	19751314	Missense_Mutation	SNP	C	TCGA-HT-8104-01A-11D-2395-08	12877831	19751314	58325934	73	28911											
DSG2	1829	broad.mit.edu	37	18	29126335	29126335	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr18:29126335G>T	ENST00000261590.8	+	15	3195	c.2986G>T	c.(2986-2988)Ggg>Tgg	p.G996W	RP11-75N4.2_ENST00000583706.1_RNA	NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	desmoglein 2	996					cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			ACAGCCTCATGGGGGTGGATC	0.498													5	77					0.014758	0.0149904	1	1	0	T	29126335	G	T	29126335	3	4	297	1	0	0	0	0	1	0	0	0	4803	1348	47	5	3044	5	DSG2	18	29126335	Missense_Mutation	SNP	G	TCGA-HT-8104-01A-11D-2395-08	9375021	29126335	48950913	74	28912											
MKNK2	2872	broad.mit.edu	37	19	2043519	2043519	+	Silent	SNP	G	G	A			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr19:2043519G>A	ENST00000250896.3	-	6	646	c.402C>T	c.(400-402)taC>taT	p.Y134Y	MKNK2_ENST00000309340.7_Silent_p.Y134Y|MKNK2_ENST00000541165.1_Silent_p.Y3Y|MKNK2_ENST00000591601.1_Silent_p.Y134Y	NM_199054.2	NP_951009.1	Q9HBH9	MKNK2_HUMAN	MAP kinase interacting serine/threonine kinase 2	134	Protein kinase.				cell surface receptor linked signaling pathway|intracellular protein kinase cascade|regulation of translation		ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(1)|kidney(3)|large_intestine(3)|lung(3)	10		Ovarian(11;2.11e-07)|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)		CCTGGCACTGGTACAGCATCT	0.587													19	59					0	0	1	0	0	A	2043519	G	A	2043519	2	1	297	1	0	0	0	0	0	0	0	1	9653	1256	44	2		2	MKNK2	19	2043519	Silent	SNP	G	TCGA-HT-8104-01A-11D-2395-08		2043519	57085464	75	28913											
RNASEH2A	10535	broad.mit.edu	37	19	12920991	12920991	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr19:12920991C>T	ENST00000221486.4	+	5	612	c.518C>T	c.(517-519)cCg>cTg	p.P173L		NM_006397.2	NP_006388.2	O75792	RNH2A_HUMAN	ribonuclease H2, subunit A	173					DNA replication|RNA catabolic process	nucleus|ribonuclease H2 complex	metal ion binding|ribonuclease H activity|RNA binding			breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1)	14						GCCCTCTACCCGGTGGTTAGT	0.582													35	112					0	0	1	0	0	T	12920991	C	T	12920991	3	4	297	1	0	0	0	0	1	0	0	0	13464	652	23	1	536	1	RNASEH2A	19	12920991	Missense_Mutation	SNP	C	TCGA-HT-8104-01A-11D-2395-08	10877472	12920991	46207992	76	28914											
CYP2S1	29785	broad.mit.edu	37	19	41703792	41703792	+	Missense_Mutation	SNP	C	C	T	rs148695011		TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr19:41703792C>T	ENST00000310054.4	+	3	668	c.452C>T	c.(451-453)gCg>gTg	p.A151V	CYP2S1_ENST00000542619.1_Intron	NM_030622.6	NP_085125.1	Q96SQ9	CP2S1_HUMAN	cytochrome P450, family 2, subfamily S, polypeptide 1	151					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity			breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(2)	14						CTGATCCAGGCGGAGGCCCGG	0.622													9	44					0	0	1	0	0	T	41703792	C	T	41703792	3	4	297	1	0	0	0	0	1	0	0	0	4197	768	27	1	462	1	CYP2S1	19	41703792	Missense_Mutation	SNP	C	TCGA-HT-8104-01A-11D-2395-08	28782801	41703792	17425191	77	28915											
ZNF665	79788	broad.mit.edu	37	19	53668011	53668011	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr19:53668011C>G	ENST00000600412.1	-	2	1652	c.1537G>C	c.(1537-1539)Gca>Cca	p.A513P	ZNF665_ENST00000396424.3_Missense_Mutation_p.A578P			Q9H7R5	ZN665_HUMAN	zinc finger protein 665	513					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	35				GBM - Glioblastoma multiforme(134;0.0196)		ACACTAAATGCTTTGCCGCAC	0.398													24	164					0	0	1	0	0	G	53668011	C	G	53668011	3	3	297	1	0	0	0	0	1	0	0	0	18130	797	28	4	308	4	ZNF665	19	53668011	Missense_Mutation	SNP	C	TCGA-HT-8104-01A-11D-2395-08	11964219	53668011	5460972	78	28916											
NLRP11	204801	broad.mit.edu	37	19	56320376	56320376	+	Missense_Mutation	SNP	G	G	T	rs115243845	by1000genomes	TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr19:56320376G>T	ENST00000443188.1	-	5	2310	c.1600C>A	c.(1600-1602)Cgt>Agt	p.R534S	NLRP11_ENST00000589824.2_Missense_Mutation_p.R534S|NLRP11_ENST00000360133.3_Missense_Mutation_p.R534S|NLRP11_ENST00000589093.1_Missense_Mutation_p.R534S|NLRP11_ENST00000592953.1_Missense_Mutation_p.R435S	NM_145007.3	NP_659444.2	P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	534							ATP binding	p.R534C(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		TCCGGGTCACGGTCCAAATGT	0.448													4	312					3.59834e-05	3.74343e-05	1	1	0	T	56320376	G	T	56320376	3	4	297	1	0	0	0	0	1	0	0	0	10520	1116	39	5	1533	5	NLRP11	19	56320376	Missense_Mutation	SNP	G	TCGA-HT-8104-01A-11D-2395-08	2652365	56320376	2808607	79	28917	132	2									
NLRP11	204801	broad.mit.edu	37	19	56320377	56320377	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr19:56320377G>T	ENST00000443188.1	-	5	2309	c.1599C>A	c.(1597-1599)gaC>gaA	p.D533E	NLRP11_ENST00000589824.2_Missense_Mutation_p.D533E|NLRP11_ENST00000360133.3_Missense_Mutation_p.D533E|NLRP11_ENST00000589093.1_Missense_Mutation_p.D533E|NLRP11_ENST00000592953.1_Missense_Mutation_p.D434E	NM_145007.3	NP_659444.2	P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	533							ATP binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		CCGGGTCACGGTCCAAATGTT	0.448													4	316					3.59834e-05	3.74343e-05	1	1	0	T	56320377	G	T	56320377	3	4	297	1	0	0	0	0	1	0	0	0	10520	1252	44	5	1534	5	NLRP11	19	56320377	Missense_Mutation	SNP	G	TCGA-HT-8104-01A-11D-2395-08	1	56320377	2808606	80	28918	132	2									
NLRP11	204801	broad.mit.edu	37	19	56321356	56321356	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr19:56321356C>G	ENST00000443188.1	-	5	1330	c.620G>C	c.(619-621)tGg>tCg	p.W207S	NLRP11_ENST00000589824.2_Missense_Mutation_p.W207S|NLRP11_ENST00000360133.3_Missense_Mutation_p.W207S|NLRP11_ENST00000589093.1_Missense_Mutation_p.W207S|NLRP11_ENST00000592953.1_Missense_Mutation_p.W108S	NM_145007.3	NP_659444.2	P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	207	NACHT.						ATP binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		GCCGTCAGGCCAGTCCTTGGC	0.498													44	66					0	0	1	0	0	G	56321356	C	G	56321356	3	3	297	1	0	0	0	0	1	0	0	0	10520	595	21	5	2513	5	NLRP11	19	56321356	Missense_Mutation	SNP	C	TCGA-HT-8104-01A-11D-2395-08	979	56321356	2807627	81	28919											
ZNF551	90233	broad.mit.edu	37	19	58199100	58199100	+	Missense_Mutation	SNP	G	G	A	rs138423649		TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr19:58199100G>A	ENST00000282296.5	+	3	1642	c.1457G>A	c.(1456-1458)cGc>cAc	p.R486H	AC003006.7_ENST00000599221.1_Intron|AC003006.7_ENST00000594684.1_Intron|ZNF551_ENST00000596085.1_Intron|ZNF551_ENST00000356715.4_Missense_Mutation_p.R470H			Q7Z340	ZN551_HUMAN	zinc finger protein 551	486					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)	15		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		TCCTTTAGCCGCAAATTTATC	0.423													4	147					0	0	1	0	0	A	58199100	G	A	58199100	3	1	297	1	0	0	0	0	1	0	0	0	18040	1087	38	1	1419	1	ZNF551	19	58199100	Missense_Mutation	SNP	G	TCGA-HT-8104-01A-11D-2395-08	1877744	58199100	929883	82	28920											
AHCY	191	broad.mit.edu	37	20	32873405	32873405	+	Silent	SNP	G	G	A	rs139344907	byFrequency	TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr20:32873405G>A	ENST00000538132.1	-	9	1310	c.924C>T	c.(922-924)atC>atT	p.I308I	CTD-3216D2.5_ENST00000609218.1_RNA|AHCY_ENST00000217426.2_Silent_p.I336I	NM_001161766.1	NP_001155238.1	P23526	SAHH_HUMAN	adenosylhomocysteinase	336					methylation|xenobiotic metabolic process	cytosol|melanosome	adenosylhomocysteinase activity|protein binding			endometrium(6)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						CCAGCAGGATGATGCGGCGCC	0.632													9	134					0	0	1	0	0	A	32873405	G	A	32873405	2	1	297	1	0	0	0	0	0	0	0	1	406	1280	45	2		2	AHCY	20	32873405	Silent	SNP	G	TCGA-HT-8104-01A-11D-2395-08		32873405	30152115	83	28921											
RIPK4	54101	broad.mit.edu	37	21	43161012	43161012	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr21:43161012G>A	ENST00000352483.2	-	9	2549	c.2485C>T	c.(2485-2487)Cga>Tga	p.R829*	RIPK4_ENST00000542057.1_Nonsense_Mutation_p.R718*|RIPK4_ENST00000332512.3_Nonsense_Mutation_p.R781*|RIPK4_ENST00000544709.1_Nonsense_Mutation_p.R718*|AP001615.9_ENST00000423276.1_RNA			Q96T11	Q96T11_HUMAN	receptor-interacting serine-threonine kinase 4	781						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						GTCTTGCTTCGCCGCAGGAGC	0.672													15	40					0	0	1	0	0	A	43161012	G	A	43161012	4	1	297	1	0	0	0	0	0	1	0	0	13435	1095	38	1	17	1	RIPK4	21	43161012	Nonsense_Mutation	SNP	G	TCGA-HT-8104-01A-11D-2395-08		43161012	4968883	84	28922											
TRPM2	7226	broad.mit.edu	37	21	45846577	45846577	+	Missense_Mutation	SNP	C	C	T	rs113563173	byFrequency	TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr21:45846577C>T	ENST00000397928.1	+	26	4275	c.3830C>T	c.(3829-3831)aCg>aTg	p.T1277M	TRPM2_ENST00000300482.5_Missense_Mutation_p.T1277M|TRPM2_ENST00000300481.9_Missense_Mutation_p.T1257M|TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000397932.2_Missense_Mutation_p.T1327M	NM_003307.3	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	1277						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity	p.T1277M(1)		breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						CCCTTTTACACGGCAGAGAGG	0.602													18	107					0	0	1	0	0	T	45846577	C	T	45846577	3	4	297	1	0	0	0	0	1	0	0	0	16647	536	19	1	3932	1	TRPM2	21	45846577	Missense_Mutation	SNP	C	TCGA-HT-8104-01A-11D-2395-08	2685565	45846577	2283318	85	28923											
L3MBTL2	83746	broad.mit.edu	37	22	41620063	41620063	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr22:41620063C>T	ENST00000216237.5	+	9	1140	c.982C>T	c.(982-984)Cgg>Tgg	p.R328W		NM_031488.4	NP_113676.2	Q969R5	LMBL2_HUMAN	l(3)mbt-like 2 (Drosophila)	328					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	methylated histone residue binding|transcription corepressor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GCAGGGCATGCGGCTGGAAGT	0.597													3	76					0	0	1	0	0	T	41620063	C	T	41620063	3	4	297	1	0	0	0	0	1	0	0	0	8631	759	27	1	1016	1	L3MBTL2	22	41620063	Missense_Mutation	SNP	C	TCGA-HT-8104-01A-11D-2395-08		41620063	9684503	86	28924											
TUBGCP6	85378	broad.mit.edu	37	22	50656813	50656813	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr22:50656813G>A	ENST00000248846.5	-	23	5077	c.4973C>T	c.(4972-4974)gCc>gTc	p.A1658V	TUBGCP6_ENST00000491449.1_5'UTR|TUBGCP6_ENST00000439308.2_3'UTR			Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	1658					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		CACAGAGCCGGCCATGTGGCT	0.662													3	81					0	0	1	0	0	A	50656813	G	A	50656813	3	1	297	1	0	0	0	0	1	0	0	0	16832	1203	42	2	498	2	TUBGCP6	22	50656813	Missense_Mutation	SNP	G	TCGA-HT-8104-01A-11D-2395-08	9036750	50656813	647753	87	28925											
APEX2	27301	broad.mit.edu	37	X	55033742	55033742	+	Silent	SNP	G	G	T			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chrX:55033742G>T	ENST00000374987.3	+	6	1497	c.1431G>T	c.(1429-1431)gtG>gtT	p.V477V		NM_014481.2	NP_055296.2	Q9UBZ4	APEX2_HUMAN	APEX nuclease (apurinic/apyrimidinic endonuclease) 2	477					cell cycle|DNA recombination|DNA repair	nucleus	DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|endonuclease activity|exonuclease activity|zinc ion binding			breast(1)|endometrium(8)|large_intestine(4)|lung(6)|prostate(1)|urinary_tract(1)	21						AGCCATGTGTGATGCGTACTG	0.622								Other BER factors					21	37					2.37509e-13	2.5965e-13	1	1	0	T	55033742	G	T	55033742	2	4	297	1	0	0	0	0	0	0	0	1	766	1277	45	5		5	APEX2	23	55033742	Silent	SNP	G	TCGA-HT-8104-01A-11D-2395-08		55033742	100236818	88	28926											
ZMYM3	9203	broad.mit.edu	37	X	70464671	70464671	+	Missense_Mutation	SNP	G	G	C			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chrX:70464671G>C	ENST00000373998.1	-	19	3741	c.3044C>G	c.(3043-3045)aCt>aGt	p.T1015S	ZMYM3_ENST00000353904.2_Missense_Mutation_p.T1027S|ZMYM3_ENST00000373988.1_Missense_Mutation_p.T1029S|ZMYM3_ENST00000373984.3_Missense_Mutation_p.T1029S|ZMYM3_ENST00000314425.5_Missense_Mutation_p.T1027S|ZMYM3_ENST00000489332.1_5'UTR	NM_001171162.1	NP_001164633.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	1027					multicellular organismal development	nucleus	DNA binding|zinc ion binding	p.T1027fs*9(1)		breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					GTCTTGTTCAGTAGACACATC	0.478													8	27					0	0	1	0	0	C	70464671	G	C	70464671	3	2	297	1	0	0	0	0	1	0	0	0	17759	1029	36	4	1060	4	ZMYM3	23	70464671	Missense_Mutation	SNP	G	TCGA-HT-8104-01A-11D-2395-08	15430929	70464671	84805889	89	28927											
RPS4X	6191	broad.mit.edu	37	X	71493768	71493768	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chrX:71493768G>T	ENST00000316084.6	-	5	519	c.415C>A	c.(415-417)Ctg>Atg	p.L139M	RPS4X_ENST00000486733.1_5'UTR	NM_001007.4	NP_000998.1	P62701	RS4X_HUMAN	ribosomal protein S4, X-linked	139					endocrine pancreas development|positive regulation of cell proliferation|positive regulation of translation|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|polysome	rRNA binding|structural constituent of ribosome			NS(1)|large_intestine(1)	2	Renal(35;0.156)					TGAGTCACCAGATGAGGGATT	0.438													24	48					1.96895e-08	2.13441e-08	1	1	0	T	71493768	G	T	71493768	3	4	297	1	0	0	0	0	1	0	0	0	13697	933	33	4	388	4	RPS4X	23	71493768	Missense_Mutation	SNP	G	TCGA-HT-8104-01A-11D-2395-08	1029097	71493768	83776792	90	28928											
CYLC1	1538	broad.mit.edu	37	X	83129576	83129576	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chrX:83129576G>T	ENST00000329312.4	+	4	1897	c.1860G>T	c.(1858-1860)aaG>aaT	p.K620N		NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head cytoskeleton 1	620	Pro-rich.				cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						CATCACCAAAGGTCAGACGTC	0.433													32	51					3.86903e-22	4.26585e-22	1	1	0	T	83129576	G	T	83129576	3	4	297	1	0	0	0	0	1	0	0	0	4164	991	35	4	1874	4	CYLC1	23	83129576	Missense_Mutation	SNP	G	TCGA-HT-8104-01A-11D-2395-08	11635808	83129576	72140984	91	28929											
CPXCR1	53336	broad.mit.edu	37	X	88009269	88009269	+	Missense_Mutation	SNP	T	T	A			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chrX:88009269T>A	ENST00000276127.4	+	3	1113	c.854T>A	c.(853-855)tTt>tAt	p.F285Y	CPXCR1_ENST00000373111.1_Missense_Mutation_p.F285Y	NM_033048.5	NP_149037	Q8N123	CPXCR_HUMAN	CPX chromosome region, candidate 1	285						intracellular	zinc ion binding			NS(1)|cervix(1)|kidney(1)|large_intestine(11)|liver(1)|lung(20)|ovary(3)|upper_aerodigestive_tract(2)	40						GGAAGGCTTTTTAACACTTAC	0.303													26	37					0	0	1	0	0	A	88009269	T	A	88009269	3	1	297	1	0	0	0	0	1	0	0	0	3859	1841	64	5	856	5	CPXCR1	23	88009269	Missense_Mutation	SNP	T	TCGA-HT-8104-01A-11D-2395-08	4879693	88009269	67261291	92	28930											
NKRF	55922	broad.mit.edu	37	X	118724016	118724016	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chrX:118724016T>C	ENST00000371527.1	-	2	2024	c.1372A>G	c.(1372-1374)Aca>Gca	p.T458A	NKRF_ENST00000542113.1_Missense_Mutation_p.T473A|NKRF_ENST00000487600.1_Intron|NKRF_ENST00000304449.5_Missense_Mutation_p.T458A	NM_001173488.1	NP_001166959.1	O15226	NKRF_HUMAN	NFKB repressing factor	458					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|double-stranded RNA binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	30						AACTGAGCTGTGTCGTTCAGC	0.428													52	138					0	0	1	0	0	C	118724016	T	C	118724016	3	2	297	1	0	0	0	0	1	0	0	0	10494	1696	59	3	704	3	NKRF	23	118724016	Missense_Mutation	SNP	T	TCGA-HT-8104-01A-11D-2395-08	30714747	118724016	36546544	93	28931											
BCORL1	63035	broad.mit.edu	37	X	129147463	129147463	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chrX:129147463G>A	ENST00000540052.1	+	3	759	c.715G>A	c.(715-717)Gtc>Atc	p.V239I	BCORL1_ENST00000218147.7_Missense_Mutation_p.V239I|BCORL1_ENST00000359304.2_Missense_Mutation_p.V239I|BCORL1_ENST00000303743.5_Missense_Mutation_p.V239I	NM_021946.4	NP_068765	Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	239	Pro-rich.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						GCTTGTTCCAGTCCAAGTTGC	0.637													92	163					0	0	1	0	0	A	129147463	G	A	129147463	3	1	297	1	0	0	0	0	1	0	0	0	1385	1029	36	2	725	2	BCORL1	23	129147463	Missense_Mutation	SNP	G	TCGA-HT-8104-01A-11D-2395-08	10423447	129147463	26123097	94	28932											
SLC25A14	9016	broad.mit.edu	37	X	129498601	129498601	+	Splice_Site	SNP	G	G	A			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chrX:129498601G>A	ENST00000543953.1	+	7	538		c.e7-1		SLC25A14_ENST00000218197.5_Splice_Site|SLC25A14_ENST00000361980.5_Splice_Site|SLC25A14_ENST00000339231.3_Splice_Site|SLC25A14_ENST00000545805.1_Splice_Site|SLC25A14_ENST00000467496.1_Splice_Site			O95258	UCP5_HUMAN	solute carrier family 25 (mitochondrial carrier, brain), member 14						aerobic respiration|mitochondrial transport	integral to plasma membrane|mitochondrial inner membrane	binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)	22						GTGTTTCGTAGGGTGTGGTTC	0.408													36	89					0	0	1	0	0	A	129498601	G	A	129498601	5	1	297	1	0	0	0	0	0	0	1	0	14531	1014	35	2	620	2	SLC25A14	23	129498601	Splice_Site	SNP	G	TCGA-HT-8104-01A-11D-2395-08	351138	129498601	25771959	95	28933											
IGSF1	3547	broad.mit.edu	37	X	130413285	130413285	+	Silent	SNP	C	C	T			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chrX:130413285C>T	ENST00000370904.1	-	16	2560	c.1650G>A	c.(1648-1650)ggG>ggA	p.G550G	IGSF1_ENST00000370903.3_Silent_p.G559G|IGSF1_ENST00000370910.1_Silent_p.G550G|IGSF1_ENST00000361420.3_Silent_p.G559G			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	559					regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						GCATGGTGACCCCTTGAGCTG	0.617													25	56					0	0	1	0	0	T	130413285	C	T	130413285	2	4	297	1	0	0	0	0	0	0	0	1	7640	610	22	2		2	IGSF1	23	130413285	Silent	SNP	C	TCGA-HT-8104-01A-11D-2395-08	914684	130413285	24857275	96	28934											
IGSF1	3547	broad.mit.edu	37	X	130415782	130415782	+	Missense_Mutation	SNP	T	T	G			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chrX:130415782T>G	ENST00000370904.1	-	14	2266	c.1356A>C	c.(1354-1356)caA>caC	p.Q452H	IGSF1_ENST00000370903.3_Missense_Mutation_p.Q461H|IGSF1_ENST00000370910.1_Missense_Mutation_p.Q452H|IGSF1_ENST00000361420.3_Missense_Mutation_p.Q461H			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	461	Ig-like C2-type 5.				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						CTGAGAATTTTTGGAATGTTT	0.453													41	51					0	0	1	0	0	G	130415782	T	G	130415782	3	3	297	1	0	0	0	0	1	0	0	0	7640	1838	64	5	2694	5	IGSF1	23	130415782	Missense_Mutation	SNP	T	TCGA-HT-8104-01A-11D-2395-08	2497	130415782	24854778	97	28935											
AADACL4	343066	broad.mit.edu	37	1	12726312	12726312	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr1:12726312C>T	ENST00000376221.1	+	4	790	c.790C>T	c.(790-792)Cgt>Tgt	p.R264C		NM_001013630.1	NP_001013652.1	Q5VUY2	ADCL4_HUMAN	arylacetamide deacetylase-like 4	264						integral to membrane	carboxylesterase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)	17	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384)		CCTCTCCTGGCGTGACGCCAT	0.502													19	102					0	0	1	0	0	T	12726312	C	T	12726312	3	4	298	1	0	0	0	0	1	0	0	0	13	768	27	1	804	1	AADACL4	1	12726312	Missense_Mutation	SNP	C	TCGA-HT-8105-01A-11D-2395-08		12726312	236524309	1	28936											
ANGPTL3	27329	broad.mit.edu	37	1	63063515	63063517	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr1:63063515_63063517delAAG	ENST00000371129.3	+	1	358_360	c.278_280delAAG	c.(277-282)aaagaa>aaa	p.E96del	DOCK7_ENST00000404627.2_Intron|DOCK7_ENST00000340370.5_Intron|DOCK7_ENST00000251157.5_Intron	NM_014495.2	NP_055310.1	Q9Y5C1	ANGL3_HUMAN	angiopoietin-like 3	96					acylglycerol homeostasis|artery morphogenesis|cell-matrix adhesion|cholesterol homeostasis|cholesterol metabolic process|fatty acid metabolic process|glycerol metabolic process|integrin-mediated signaling pathway|lipid storage|negative regulation of lipoprotein lipase activity|negative regulation of phospholipase activity|phospholipid catabolic process|phospholipid homeostasis|positive regulation of angiogenesis|positive regulation of cell migration|positive regulation of lipid catabolic process|triglyceride homeostasis	extracellular space	cell surface binding|growth factor activity|integrin binding|phospholipase inhibitor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(3)|urinary_tract(1)	13						AGTGAAATCAAAGAAGAAGAAAA	0.325													24	14	---	---	---	---						-	63063517	AAG	-	63063515	7	5	298	1	0	1	0	1	0	0	0	0	611	14	1	0	280	0	ANGPTL3	1	63063515	In_Frame_Del	DEL	AAG	TCGA-HT-8105-01A-11D-2395-08	50337203	63063515	186187106	2	28937											
FUBP1	8880	broad.mit.edu	37	1	78428470	78428471	+	Frame_Shift_Del	DEL	TA	TA	-			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr1:78428470_78428471delTA	ENST00000370767.1	-	14	1415_1416	c.1328_1329delTA	c.(1327-1329)atafs	p.I443fs	FUBP1_ENST00000370768.2_Frame_Shift_Del_p.I443fs|FUBP1_ENST00000436586.2_Frame_Shift_Del_p.I464fs			Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1	443	KH 4.				transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						TCTTTTCTTCTATGAGTTGCCG	0.337			"F, N"		oligodendroglioma								30	9	---	---	---	---						-	78428471	TA	-	78428470	7	5	298	1	0	1	0	1	0	0	0	0	6127	1512	53	0	633	0	FUBP1	1	78428470	Frame_Shift_Del	DEL	TA	TCGA-HT-8105-01A-11D-2395-08	15364955	78428470	170822151	3	28938											
HSD3B2	3284	broad.mit.edu	37	1	119965057	119965057	+	Missense_Mutation	SNP	A	A	C			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr1:119965057A>C	ENST00000543831.1	+	4	1182	c.933A>C	c.(931-933)caA>caC	p.Q311H	HSD3B2_ENST00000369416.3_Missense_Mutation_p.Q311H	NM_001166120.1	NP_001159592.1	P26439	3BHS2_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2	311					androgen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process	integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(19)|ovary(2)|skin(1)	27	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.015)|LUSC - Lung squamous cell carcinoma(189;0.0836)	NADH(DB00157)|Trilostane(DB01108)	ACTCCTATCAACCCCCCTTCA	0.483													4	37					0	0	1	0	0	C	119965057	A	C	119965057	3	2	298	1	0	0	0	0	1	0	0	0	7432	40	2	5	943	5	HSD3B2	1	119965057	Missense_Mutation	SNP	A	TCGA-HT-8105-01A-11D-2395-08	41536587	119965057	129285564	4	28939											
FLG	2312	broad.mit.edu	37	1	152280704	152280704	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr1:152280704A>G	ENST00000368799.1	-	3	6693	c.6658T>C	c.(6658-6660)Tct>Cct	p.S2220P	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2220	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GAGTGTCTAGAGCTGTCGGCC	0.552									Ichthyosis				5	434					0	0	1	0	0	G	152280704	A	G	152280704	3	3	298	1	0	0	0	0	1	0	0	0	5955	304	11	3	5531	3	FLG	1	152280704	Missense_Mutation	SNP	A	TCGA-HT-8105-01A-11D-2395-08	32315647	152280704	96969917	5	28940											
SCYL3	57147	broad.mit.edu	37	1	169845143	169845146	+	Frame_Shift_Del	DEL	ACAA	ACAA	-			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr1:169845143_169845146delACAA	ENST00000367771.6	-	4	652_655	c.438_441delTTGT	c.(436-441)gtttgtfs	p.VC146fs	SCYL3_ENST00000470238.1_5'UTR|SCYL3_ENST00000367770.1_Frame_Shift_Del_p.VC146fs|SCYL3_ENST00000367772.4_Frame_Shift_Del_p.VC146fs	NM_020423.6	NP_065156.5	Q8IZE3	PACE1_HUMAN	SCY1-like 3 (S. cerevisiae)		Protein kinase.				cell migration	Golgi apparatus|lamellipodium	ATP binding|protein binding|protein kinase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					GAGAAACTTTACAAACAGTTTCCA	0.441													17	46	---	---	---	---						-	169845146	ACAA	-	169845143	7	5	298	1	0	1	0	1	0	0	0	0	14003	389	14	0	1831	0	SCYL3	1	169845143	Frame_Shift_Del	DEL	ACAA	TCGA-HT-8105-01A-11D-2395-08	17564439	169845143	79405478	6	28941											
CNTN2	6900	broad.mit.edu	37	1	205030440	205030440	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr1:205030440C>G	ENST00000331830.4	+	8	1149	c.865C>G	c.(865-867)Ccc>Gcc	p.P289A		NM_005076.3	NP_005067.1	Q02246	CNTN2_HUMAN	contactin 2 (axonal)	289	Ig-like C2-type 3.				axon guidance|clustering of voltage-gated potassium channels	anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part	identical protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			CACAGCTGAGCCCACCCTGCA	0.647											OREG0014144	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	61					0	0	1	0	0	G	205030440	C	G	205030440	3	3	298	1	0	0	0	0	1	0	0	0	3664	739	26	5	891	5	CNTN2	1	205030440	Missense_Mutation	SNP	C	TCGA-HT-8105-01A-11D-2395-08	35185297	205030440	44220181	7	28942											
C1orf131	128061	broad.mit.edu	37	1	231374902	231374904	+	In_Frame_Del	DEL	TCT	TCT	-			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr1:231374902_231374904delTCT	ENST00000318906.2	-	2	177_179	c.149_151delAGA	c.(148-153)aagatc>atc	p.K50del	C1orf131_ENST00000366649.2_In_Frame_Del_p.K50del|C1orf131_ENST00000471936.1_5'UTR|C1orf131_ENST00000366651.3_In_Frame_Del_p.K50del			Q8NDD1	CA131_HUMAN	chromosome 1 open reading frame 131	50										breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)	8	Breast(184;0.0871)	all_cancers(173;0.2)|Prostate(94;0.183)				TTCTTTATGATCTTCTTCTGTTC	0.424													10	65	---	---	---	---						-	231374904	TCT	-	231374902	7	5	298	1	0	1	0	1	0	0	0	0	2011	1435	50	0	754	0	C1orf131	1	231374902	In_Frame_Del	DEL	TCT	TCGA-HT-8105-01A-11D-2395-08	26344462	231374902	17875719	8	28943											
ALS2	57679	broad.mit.edu	37	2	202619251	202619251	+	Silent	SNP	G	G	A			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr2:202619251G>A	ENST00000264276.6	-	6	1987	c.1615C>T	c.(1615-1617)Ctg>Ttg	p.L539L		NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	539					cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size	centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle	protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						CCGTGCCCCAGCTGCCCTTCC	0.517													11	128					0	0	1	0	0	A	202619251	G	A	202619251	2	1	298	1	0	0	0	0	0	0	0	1	546	962	34	2		2	ALS2	2	202619251	Silent	SNP	G	TCGA-HT-8105-01A-11D-2395-08		202619251	40580122	9	28944											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	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	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								23	32					0	0	1	0	0	T	209113112	C	T	209113112	3	4	298	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HT-8105-01A-11D-2395-08	6493861	209113112	34086261	10	28945											
ARMC9	80210	broad.mit.edu	37	2	232079592	232079592	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr2:232079592G>T	ENST00000349938.4	+	4	420	c.226G>T	c.(226-228)Gat>Tat	p.D76Y	ARMC9_ENST00000483477.1_3'UTR	NM_001271466.1|NM_025139.4	NP_001258395.1|NP_079415	Q7Z3E5	ARMC9_HUMAN	armadillo repeat containing 9	76							binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		Renal(207;0.0112)|all_lung(227;0.0744)|all_hematologic(139;0.0749)|Acute lymphoblastic leukemia(138;0.167)|Medulloblastoma(418;0.184)|Lung NSC(271;0.205)		Epithelial(121;1.43e-10)|LUSC - Lung squamous cell carcinoma(224;0.017)|Lung(119;0.0189)		GGTGTTCTTCGATCTGTGGGA	0.453													20	52					7.41877e-09	7.70411e-09	1	1	0	T	232079592	G	T	232079592	3	4	298	1	0	0	0	0	1	0	0	0	957	1058	37	5	236	5	ARMC9	2	232079592	Missense_Mutation	SNP	G	TCGA-HT-8105-01A-11D-2395-08	22966480	232079592	11119781	11	28946											
GRM7	2917	broad.mit.edu	37	3	7503380	7503380	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr3:7503380G>A	ENST00000486284.1	+	7	1760	c.1486G>A	c.(1486-1488)Ggg>Agg	p.G496R	GRM7_ENST00000458641.2_3'UTR|GRM7_ENST00000402647.2_Missense_Mutation_p.G496R|GRM7_ENST00000389336.4_Missense_Mutation_p.G496R|GRM7_ENST00000357716.4_Missense_Mutation_p.G496R|GRM7_ENST00000403881.1_Missense_Mutation_p.G496R	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	496					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	CCGTCTGATCGGGCAGTGGAC	0.468													66	106					0	0	1	0	0	A	7503380	G	A	7503380	3	1	298	1	0	0	0	0	1	0	0	0	6843	1116	39	1	1512	1	GRM7	3	7503380	Missense_Mutation	SNP	G	TCGA-HT-8105-01A-11D-2395-08		7503380	190519050	12	28947											
GOLGA4	2803	broad.mit.edu	37	3	37402755	37402755	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr3:37402755A>G	ENST00000361924.2	+	23	7059	c.6685A>G	c.(6685-6687)Atc>Gtc	p.I2229V	GOLGA4_ENST00000356847.4_Intron|GOLGA4_ENST00000444882.1_Intron	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN	golgin A4	2229					Golgi to plasma membrane protein transport	Golgi membrane|trans-Golgi network	protein binding			NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						TCGCAGTGGTATCTTCTGAGT	0.353													9	57					0	0	1	0	0	G	37402755	A	G	37402755	3	3	298	1	0	0	0	0	1	0	0	0	6597	449	16	3	6845	3	GOLGA4	3	37402755	Missense_Mutation	SNP	A	TCGA-HT-8105-01A-11D-2395-08	29899375	37402755	160619675	13	28948											
CELSR3	1951	broad.mit.edu	37	3	48699364	48699365	+	Frame_Shift_Ins	INS	-	-	G			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr3:48699364_48699365insG	ENST00000544264.1	-	1	983_984	c.703_704insC	c.(703-705)cttfs	p.L235fs	CELSR3_ENST00000164024.4_Frame_Shift_Ins_p.L235fs			Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	235					homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GGCCCCTGGAAGACAGTTCCGC	0.658													69	120	---	---	---	---						G	48699365	-	G	48699364	7	5	298	1	0	1	1	0	0	0	0	0	3245	72	3	0	9374	0	CELSR3	3	48699364	Frame_Shift_Ins	INS	-	TCGA-HT-8105-01A-11D-2395-08	11296609	48699364	149323066	14	28949											
PDZRN3	23024	broad.mit.edu	37	3	73433161	73433161	+	Missense_Mutation	SNP	G	G	C			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr3:73433161G>C	ENST00000263666.4	-	10	2670	c.2556C>G	c.(2554-2556)agC>agG	p.S852R	PDZRN3_ENST00000535920.1_Missense_Mutation_p.S574R|PDZRN3_ENST00000479530.1_Missense_Mutation_p.S569R|PDZRN3_ENST00000466780.1_Missense_Mutation_p.S509R|PDZRN3_ENST00000462146.2_Missense_Mutation_p.S509R	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	852							ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		CCAGCTTCTGGCTGGGCGTGG	0.662													5	141					0	0	1	0	0	C	73433161	G	C	73433161	3	2	298	1	0	0	0	0	1	0	0	0	11756	1194	42	5	648	5	PDZRN3	3	73433161	Missense_Mutation	SNP	G	TCGA-HT-8105-01A-11D-2395-08	24733797	73433161	124589269	15	28950											
ROBO2	6092	broad.mit.edu	37	3	77595545	77595545	+	Missense_Mutation	SNP	G	G	C			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr3:77595545G>C	ENST00000461745.1	+	7	1891	c.991G>C	c.(991-993)Gtg>Ctg	p.V331L	ROBO2_ENST00000332191.8_Missense_Mutation_p.V331L|ROBO2_ENST00000487694.3_Missense_Mutation_p.V347L	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	331	Ig-like C2-type 4.				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		AGGTCGAACAGTGACATTTCC	0.433													4	269					0	0	1	0	0	C	77595545	G	C	77595545	3	2	298	1	0	0	0	0	1	0	0	0	13566	1029	36	4	1019	4	ROBO2	3	77595545	Missense_Mutation	SNP	G	TCGA-HT-8105-01A-11D-2395-08	4162384	77595545	120426885	16	28951											
OR5H14	403273	broad.mit.edu	37	3	97868537	97868537	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr3:97868537C>T	ENST00000437310.1	+	1	368	c.308C>T	c.(307-309)tCg>tTg	p.S103L		NM_001005514.1	NP_001005514.1	A6NHG9	O5H14_HUMAN	olfactory receptor, family 5, subfamily H, member 14	103					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S103L(1)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						CAGTTGTTTTCGTTTGCAATC	0.393													84	31					0	0	1	0	0	T	97868537	C	T	97868537	3	4	298	1	0	0	0	0	1	0	0	0	11207	893	31	1	310	1	OR5H14	3	97868537	Missense_Mutation	SNP	C	TCGA-HT-8105-01A-11D-2395-08	20272992	97868537	100153893	17	28952											
PLCH1	23007	broad.mit.edu	37	3	155200026	155200026	+	Silent	SNP	C	C	T			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr3:155200026C>T	ENST00000460012.1	-	23	4056	c.3699G>A	c.(3697-3699)acG>acA	p.T1233T	PLCH1_ENST00000447496.2_3'UTR|PLCH1_ENST00000334686.6_Silent_p.T1233T|PLCH1_ENST00000494598.1_Intron|PLCH1_ENST00000340059.7_Silent_p.T1271T|PLCH1_ENST00000414191.1_Silent_p.T1233T			Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	1271					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity	p.T1233T(1)|p.T1271T(1)		NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			AAACTGTGTTCGTTGCATGTT	0.468													74	90					0	0	1	0	0	T	155200026	C	T	155200026	2	4	298	1	0	0	0	0	0	0	0	1	12085	871	31	1		1	PLCH1	3	155200026	Silent	SNP	C	TCGA-HT-8105-01A-11D-2395-08	57331489	155200026	42822404	18	28953											
LRRC31	79782	broad.mit.edu	37	3	169558001	169558001	+	Silent	SNP	G	G	A			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr3:169558001G>A	ENST00000316428.5	-	9	1485	c.1428C>T	c.(1426-1428)aaC>aaT	p.N476N	LRRC31_ENST00000523069.1_3'UTR|LRRC31_ENST00000264676.5_Silent_p.N420N	NM_001277127.1|NM_024727.2	NP_001264056.1|NP_079003.2	Q6UY01	LRC31_HUMAN	leucine rich repeat containing 31	476										cervix(3)|endometrium(3)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	31	all_cancers(22;2.76e-22)|all_epithelial(15;4.73e-27)|all_lung(20;9.24e-17)|Lung NSC(18;3.85e-16)|Ovarian(172;0.000223)|Breast(254;0.197)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00943)			GGAACCGCACGTTTTGGCAGA	0.473													4	98					0	0	1	0	0	A	169558001	G	A	169558001	2	1	298	1	0	0	0	0	0	0	0	1	9031	1136	40	1		1	LRRC31	3	169558001	Silent	SNP	G	TCGA-HT-8105-01A-11D-2395-08	14357975	169558001	28464429	19	28954											
SLC6A3	6531	broad.mit.edu	37	5	1409222	1409222	+	Missense_Mutation	SNP	T	T	G			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr5:1409222T>G	ENST00000270349.9	-	11	1544	c.1417A>C	c.(1417-1419)Acg>Ccg	p.T473P	SLC6A3_ENST00000453492.2_Missense_Mutation_p.T473P	NM_001044.4	NP_001035.1	Q01959	SC6A3_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 3	473					cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body				breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)	TCCAGGAGCGTGAAGACGTAG	0.582													11	13					0	0	1	0	0	G	1409222	T	G	1409222	3	3	298	1	0	0	0	0	1	0	0	0	14740	1696	59	5	465	5	SLC6A3	5	1409222	Missense_Mutation	SNP	T	TCGA-HT-8105-01A-11D-2395-08		1409222	179506038	20	28955											
HIST1H1C	3006	broad.mit.edu	37	6	26056630	26056630	+	Silent	SNP	G	G	C			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr6:26056630G>C	ENST00000343677.2	-	1	69	c.27C>G	c.(25-27)ccC>ccG	p.P9P		NM_005319.3	NP_005310.1	P16403	H12_HUMAN	histone cluster 1, H1c	9					nucleosome assembly	nucleosome|nucleus	DNA binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	34						GCGCGGCAGCGGGAGCGGCAG	0.617													32	55					0	0	1	0	0	C	26056630	G	C	26056630	2	2	298	1	0	0	0	0	0	0	0	1	7165	1103	39	5		5	HIST1H1C	6	26056630	Silent	SNP	G	TCGA-HT-8105-01A-11D-2395-08		26056630	145058437	21	28956											
SIM1	6492	broad.mit.edu	37	6	100898211	100898211	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr6:100898211C>T	ENST00000369208.3	-	4	1062	c.280G>A	c.(280-282)Gtg>Atg	p.V94M	SIM1_ENST00000262901.4_Missense_Mutation_p.V94M			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	94	PAS 1.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		GGGGCTACCACGAAGATGAAG	0.527													59	114					0	0	1	0	0	T	100898211	C	T	100898211	3	4	298	1	0	0	0	0	1	0	0	0	14378	536	19	1	2056	1	SIM1	6	100898211	Missense_Mutation	SNP	C	TCGA-HT-8105-01A-11D-2395-08	74841581	100898211	70216856	22	28957											
LAMA2	3908	broad.mit.edu	37	6	129762070	129762072	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr6:129762070_129762072delGAA	ENST00000421865.2	+	43	6244_6246	c.6195_6197delGAA	c.(6193-6198)ctgaag>ctg	p.K2067del		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	2067	Domain II and I.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		TCGATGGCCTGAAGAAGAATTAC	0.438													21	41	---	---	---	---						-	129762072	GAA	-	129762070	7	5	298	1	0	1	0	1	0	0	0	0	8645	1277	45	0	6365	0	LAMA2	6	129762070	In_Frame_Del	DEL	GAA	TCGA-HT-8105-01A-11D-2395-08	28863859	129762070	41352997	23	28958											
C1GALT1	56913	broad.mit.edu	37	7	7278106	7278109	+	Frame_Shift_Del	DEL	AATT	AATT	-			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr7:7278106_7278109delAATT	ENST00000436587.2	+	3	664_667	c.441_444delAATT	c.(439-444)acaattfs	p.TI147fs	C1GALT1_ENST00000223122.3_Frame_Shift_Del_p.TI147fs|C1GALT1_ENST00000402468.3_Frame_Shift_Del_p.TI147fs	NM_020156.3	NP_064541.1	Q9NS00	C1GLT_HUMAN	core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase, 1	147					angiogenesis|cell differentiation|kidney development	integral to membrane	glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase activity|metal ion binding			breast(1)|kidney(1)|lung(3)|prostate(1)|urinary_tract(1)	7				UCEC - Uterine corpus endometrioid carcinoma (126;0.177)		ACTGGAAAACAATTAAAGCTTTTC	0.358													21	56	---	---	---	---						-	7278109	AATT	-	7278106	7	5	298	1	0	1	0	1	0	0	0	0	1965	117	5	0	447	0	C1GALT1	7	7278106	Frame_Shift_Del	DEL	AATT	TCGA-HT-8105-01A-11D-2395-08		7278106	151860557	24	28959											
JAZF1	221895	broad.mit.edu	37	7	27880482	27880482	+	Silent	SNP	G	G	A	rs142184731		TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr7:27880482G>A	ENST00000283928.5	-	4	555	c.390C>T	c.(388-390)agC>agT	p.S130S	JAZF1_ENST00000466516.1_5'UTR	NM_175061.3	NP_778231.2	Q86VZ6	JAZF1_HUMAN	JAZF zinc finger 1	130		Breakpoint for translocation to form JAZF1-SUZ12 oncogene.			negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	transcriptional repressor complex	nucleic acid binding|transcription corepressor activity|zinc ion binding		JAZF1/SUZ12(133)	endometrium(1)|large_intestine(1)|lung(4)	6						CGTCATACTCGCTGCCTGCAG	0.592			T	SUZ12	endometrial stromal tumours								4	113					0	0	1	0	0	A	27880482	G	A	27880482	2	1	298	1	0	0	0	0	0	0	0	1	7990	1078	38	1		1	JAZF1	7	27880482	Silent	SNP	G	TCGA-HT-8105-01A-11D-2395-08	20602376	27880482	131258181	25	28960											
WBSCR16	81554	broad.mit.edu	37	7	74486566	74486566	+	Silent	SNP	G	G	A			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr7:74486566G>A	ENST00000503250.2	-	2	411	c.342C>T	c.(340-342)tgC>tgT	p.C114C	WBSCR16_ENST00000329959.4_Silent_p.C114C|WBSCR16_ENST00000543840.1_Silent_p.C114C	NM_148842.2	NP_683682.1	Q96I51	WBS16_HUMAN	Williams-Beuren syndrome chromosome region 16	114										kidney(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	4						ATCCATAGCCGCAAGCAGCAG	0.423													4	115					0	0	1	0	0	A	74486566	G	A	74486566	2	1	298	1	0	0	0	0	0	0	0	1	17323	1079	38	1		1	WBSCR16	7	74486566	Silent	SNP	G	TCGA-HT-8105-01A-11D-2395-08	46606084	74486566	84652097	26	28961											
ABCB4	5244	broad.mit.edu	37	7	87053254	87053254	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr7:87053254C>T	ENST00000265723.4	-	17	2290	c.2179G>A	c.(2179-2181)Gca>Aca	p.A727T	ABCB4_ENST00000545634.1_Missense_Mutation_p.A727T|ABCB4_ENST00000453593.1_Missense_Mutation_p.A727T|ABCB4_ENST00000358400.3_Missense_Mutation_p.A727T|ABCB4_ENST00000359206.3_Missense_Mutation_p.A727T	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	727	ABC transmembrane type-1 2.				cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity			breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)					ACTGAAAATGCCGGCTGAAGC	0.458													4	164					0	0	1	0	0	T	87053254	C	T	87053254	3	4	298	1	0	0	0	0	1	0	0	0	43	739	26	2	1729	2	ABCB4	7	87053254	Missense_Mutation	SNP	C	TCGA-HT-8105-01A-11D-2395-08	12566688	87053254	72085409	27	28962											
TTC26	79989	broad.mit.edu	37	7	138822611	138822613	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr7:138822611_138822613delGAA	ENST00000464848.1	+	3	240_242	c.160_162delGAA	c.(160-162)gaadel	p.E57del	TTC26_ENST00000474035.2_In_Frame_Del_p.E57del|TTC26_ENST00000495038.1_In_Frame_Del_p.E57del|TTC26_ENST00000430935.1_In_Frame_Del_p.E57del|TTC26_ENST00000478836.2_In_Frame_Del_p.E57del|TTC26_ENST00000481482.1_3'UTR|TTC26_ENST00000343187.4_Intron			A0AVF1	TTC26_HUMAN	tetratricopeptide repeat domain 26	57							binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	24						TCATGTTGGGGAAGAAGAAGAGG	0.33													7	142	---	---	---	---						-	138822613	GAA	-	138822611	7	5	298	1	0	1	0	1	0	0	0	0	16756	1175	41	0	170	0	TTC26	7	138822611	In_Frame_Del	DEL	GAA	TCGA-HT-8105-01A-11D-2395-08	51769357	138822611	20316052	28	28963											
AGAP3	116988	broad.mit.edu	37	7	150840954	150840954	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr7:150840954C>T	ENST00000397238.2	+	18	2660	c.2660C>T	c.(2659-2661)gCg>gTg	p.A887V	AGAP3_ENST00000463381.1_Missense_Mutation_p.A556V	NM_031946.4	NP_114152.3	Q96P47	AGAP3_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 3	851					regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm|membrane	ARF GTPase activator activity|GTP binding|GTPase activity|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1)	28						TGTGGCTTAGCGCCTACCCCC	0.647													69	82					0	0	1	0	0	T	150840954	C	T	150840954	3	4	298	1	0	0	0	0	1	0	0	0	368	768	27	1	2797	1	AGAP3	7	150840954	Missense_Mutation	SNP	C	TCGA-HT-8105-01A-11D-2395-08	12018343	150840954	8297709	29	28964											
GPR124	25960	broad.mit.edu	37	8	37687461	37687461	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr8:37687461C>T	ENST00000315215.7	+	6	1010	c.647C>T	c.(646-648)aCg>aTg	p.T216M	GPR124_ENST00000412232.2_Missense_Mutation_p.T216M			Q96PE1	GP124_HUMAN	G protein-coupled receptor 124	216	LRRCT.				central nervous system development|endothelial cell migration|neuropeptide signaling pathway|regulation of angiogenesis|regulation of chemotaxis|sprouting angiogenesis	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37			BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			TCGGAACACACGCTCTGTGCT	0.662													3	36					0	0	1	0	0	T	37687461	C	T	37687461	3	4	298	1	0	0	0	0	1	0	0	0	6678	536	19	1	648	1	GPR124	8	37687461	Missense_Mutation	SNP	C	TCGA-HT-8105-01A-11D-2395-08		37687461	108676561	30	28965											
BHLHE22	27319	broad.mit.edu	37	8	65494021	65494023	+	In_Frame_Del	DEL	GCA	GCA	-	rs62519837		TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr8:65494021_65494023delGCA	ENST00000321870.1	+	1	1208_1210	c.674_676delGCA	c.(673-678)ggcagc>ggc	p.S234del	RP11-21C4.1_ENST00000517909.1_RNA	NM_152414.4	NP_689627.1	Q8NFJ8	BHE22_HUMAN	basic helix-loop-helix family, member e22	234	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		p.S234delS(1)|p.S226G(1)		NS(1)|central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	5						ggcagcggcggcagcagcagcag	0.709													5	8	---	---	---	---						-	65494023	GCA	-	65494021	7	5	298	1	0	1	0	1	0	0	0	0	1420	1203	42	0	676	0	BHLHE22	8	65494021	In_Frame_Del	DEL	GCA	TCGA-HT-8105-01A-11D-2395-08	27806560	65494021	80870001	31	28966											
CREB3	10488	broad.mit.edu	37	9	35736657	35736660	+	Frame_Shift_Del	DEL	AAGG	AAGG	-			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr9:35736657_35736660delAAGG	ENST00000353704.2	+	9	1488_1491	c.1050_1053delAAGG	c.(1048-1053)acaaggfs	p.TR350fs	CREB3_ENST00000486056.1_3'UTR	NM_006368.4	NP_006359.3	O43889	CREB3_HUMAN	cAMP responsive element binding protein 3	374	Pro-rich.				chemotaxis|induction of positive chemotaxis|interspecies interaction between organisms|negative regulation of cell cycle|positive regulation of calcium ion transport|positive regulation of cell migration|positive regulation of transcription, DNA-dependent|reactivation of latent virus|regulation of cell proliferation	cytosol|endoplasmic reticulum|endoplasmic reticulum membrane|Golgi apparatus|integral to membrane|nucleus	cAMP response element binding protein binding|CCR1 chemokine receptor binding|DNA binding|protein dimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|urinary_tract(1)	9	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)	GBM - Glioblastoma multiforme(74;0.0285)		CAAATCTCACAAGGAAGGGAGGAT	0.583											OREG0019176	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	65	224	---	---	---	---						-	35736660	AAGG	-	35736657	7	5	298	1	0	1	0	1	0	0	0	0	3878	117	5	0	1084	0	CREB3	9	35736657	Frame_Shift_Del	DEL	AAGG	TCGA-HT-8105-01A-11D-2395-08		35736657	105476774	32	28967											
MEGF9	1955	broad.mit.edu	37	9	123374758	123374760	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr9:123374758_123374760delCTT	ENST00000373930.3	-	4	1112_1114	c.1001_1003delAAG	c.(1000-1005)gaagga>gga	p.E334del	MEGF9_ENST00000426959.1_In_Frame_Del_p.E371del	NM_001080497.2	NP_001073966.2	Q9H1U4	MEGF9_HUMAN	multiple EGF-like-domains 9	334	Laminin EGF-like 3.					integral to membrane	calcium ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|upper_aerodigestive_tract(1)	16						TGATAAAATCCTTCTTTACATTC	0.374													13	27	---	---	---	---						-	123374760	CTT	-	123374758	7	5	298	1	0	1	0	1	0	0	0	0	9514	690	24	0	817	0	MEGF9	9	123374758	In_Frame_Del	DEL	CTT	TCGA-HT-8105-01A-11D-2395-08	87638101	123374758	17838673	33	28968											
ZER1	10444	broad.mit.edu	37	9	131512920	131512920	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr9:131512920C>T	ENST00000291900.2	-	8	1740	c.1334G>A	c.(1333-1335)gGc>gAc	p.G445D		NM_006336.2	NP_006327.2	Q7Z7L7	ZER1_HUMAN	zyg-11 related, cell cycle regulator	445					ATP hydrolysis coupled proton transport|regulation of ubiquitin-protein ligase activity	Cul2-RING ubiquitin ligase complex|vacuolar proton-transporting V-type ATPase, V1 domain	protein binding|proton-transporting ATPase activity, rotational mechanism|ubiquitin-protein ligase activity			endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	15						GGATTCCATGCCATTCAGCAC	0.627													38	32					0	0	1	0	0	T	131512920	C	T	131512920	3	4	298	1	0	0	0	0	1	0	0	0	17683	739	26	2	1002	2	ZER1	9	131512920	Missense_Mutation	SNP	C	TCGA-HT-8105-01A-11D-2395-08	8138162	131512920	9700511	34	28969											
SETX	23064	broad.mit.edu	37	9	135211887	135211887	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr9:135211887T>C	ENST00000372169.2	-	6	696	c.514A>G	c.(514-516)Atc>Gtc	p.I172V	SETX_ENST00000224140.5_Missense_Mutation_p.I172V|SETX_ENST00000393220.1_Missense_Mutation_p.I172V			Q7Z333	SETX_HUMAN	senataxin	172					cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		GCAGTCAAGATAGCCCAACGC	0.348													35	60					0	0	1	0	0	C	135211887	T	C	135211887	3	2	298	1	0	0	0	0	1	0	0	0	14195	1406	49	3	7603	3	SETX	9	135211887	Missense_Mutation	SNP	T	TCGA-HT-8105-01A-11D-2395-08	3698967	135211887	6001544	35	28970											
NOTCH1	4851	broad.mit.edu	37	9	139412725	139412727	+	In_Frame_Del	DEL	GTT	GTT	-			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr9:139412725_139412727delGTT	ENST00000277541.6	-	7	1192_1194	c.1117_1119delAAC	c.(1117-1119)aacdel	p.N373del		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	373	EGF-like 10.				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		TGCATGCGTCGTTGAGGTGGCAC	0.67			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			13	23	---	---	---	---						-	139412727	GTT	-	139412725	7	5	298	1	0	1	0	1	0	0	0	0	10594	1136	40	0	6660	0	NOTCH1	9	139412725	In_Frame_Del	DEL	GTT	TCGA-HT-8105-01A-11D-2395-08	4200838	139412725	1800706	36	28971											
KRTAP5-1	387264	broad.mit.edu	37	11	1606210	1606210	+	Silent	SNP	G	G	A			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr11:1606210G>A	ENST00000382171.2	-	1	303	c.270C>T	c.(268-270)ggC>ggT	p.G90G	KRTAP5-AS1_ENST00000424148.1_RNA|KRTAP5-AS1_ENST00000534077.1_RNA|KRTAP5-AS1_ENST00000532922.1_RNA|KRTAP5-AS1_ENST00000524947.1_RNA	NM_001005922.1	NP_001005922.1	Q6L8H4	KRA51_HUMAN	keratin associated protein 5-1	90	8 X 4 AA repeats of C-C-X-P.					keratin filament				endometrium(3)|kidney(1)|lung(9)|skin(2)|upper_aerodigestive_tract(1)	16		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		CCCCACAAGAGCCACAGCCCC	0.667													5	129					0	0	1	0	0	A	1606210	G	A	1606210	2	1	298	1	0	0	0	0	0	0	0	1	8598	958	34	2		2	KRTAP5-1	11	1606210	Silent	SNP	G	TCGA-HT-8105-01A-11D-2395-08		1606210	133400306	37	28972											
OR5T3	390154	broad.mit.edu	37	11	56020647	56020647	+	Missense_Mutation	SNP	C	C	A			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr11:56020647C>A	ENST00000303059.3	+	1	972	c.972C>A	c.(970-972)aaC>aaA	p.N324K		NM_001004747.1	NP_001004747.1	Q8NGG3	OR5T3_HUMAN	olfactory receptor, family 5, subfamily T, member 3	324					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	39	Esophageal squamous(21;0.00448)					GTTTGAGGAACAAAGAAGTAA	0.323													19	31					1.67942e-08	1.72193e-08	1	1	0	A	56020647	C	A	56020647	3	1	298	1	0	0	0	0	1	0	0	0	11230	477	17	5	974	5	OR5T3	11	56020647	Missense_Mutation	SNP	C	TCGA-HT-8105-01A-11D-2395-08	54414437	56020647	78985869	38	28973											
SERPING1	710	broad.mit.edu	37	11	57365774	57365776	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr11:57365774_57365776delCTG	ENST00000403558.1	+	1	499_501	c.133_135delCTG	c.(133-135)ctgdel	p.L49del	SERPING1_ENST00000378323.4_In_Frame_Del_p.L15del|SERPING1_ENST00000378324.2_Intron|SERPING1_ENST00000340687.6_In_Frame_Del_p.L15del|SERPING1_ENST00000278407.4_In_Frame_Del_p.L15del	NM_001032295.1	NP_001027466.1	P05155	IC1_HUMAN	serpin peptidase inhibitor, clade G (C1 inhibitor), member 1	15					blood circulation|blood coagulation, intrinsic pathway|complement activation, classical pathway|innate immune response|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation	extracellular space|platelet alpha granule lumen	protein binding|serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(1)	27						GCTGACCCTCCTGCTGCTGCTGC	0.714													3	5	---	---	---	---						-	57365776	CTG	-	57365774	7	5	298	1	0	1	0	1	0	0	0	0	14170	680	24	0	33	0	SERPING1	11	57365774	In_Frame_Del	DEL	CTG	TCGA-HT-8105-01A-11D-2395-08	1345127	57365774	77640742	39	28974											
NUDT22	84304	broad.mit.edu	37	11	63997567	63997567	+	RNA	DEL	A	A	-	rs11364788		TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr11:63997567delA	ENST00000534988.1	-	0	99																											GTGACTTGGGAAAAAAAAAAA	0.498													3	4	---	---	---	---						-	63997567	A	-	63997567	6	5	298	0	1	1	0	1	0	0	0	0	10787	261	9	0		0	NUDT22	11	63997567	RNA	DEL	A	TCGA-HT-8105-01A-11D-2395-08	6631793	63997567	71008949	40	28975											
PLEKHB1	58473	broad.mit.edu	37	11	73362876	73362877	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr11:73362876_73362877delTG	ENST00000354190.5	+	4	722_723	c.291_292delTG	c.(289-294)actgtgfs	p.V98fs	PLEKHB1_ENST00000543085.1_Frame_Shift_Del_p.V28fs|PLEKHB1_ENST00000398492.4_Frame_Shift_Del_p.V98fs|PLEKHB1_ENST00000535129.1_Frame_Shift_Del_p.V79fs|PLEKHB1_ENST00000398494.4_Frame_Shift_Del_p.V79fs|PLEKHB1_ENST00000227214.6_Frame_Shift_Del_p.V79fs|PLEKHB1_ENST00000544532.1_3'UTR	NM_021200.2	NP_067023.1	Q9UF11	PKHB1_HUMAN	pleckstrin homology domain containing, family B (evectins) member 1	98	PH.				multicellular organismal development|phototransduction	cytoplasm|integral to membrane	signal transducer activity			endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	7						GCCTGCTGACTGTGAACCTACG	0.624													22	35	---	---	---	---						-	73362877	TG	-	73362876	7	5	298	1	0	1	0	1	0	0	0	0	12112	1567	55	0	305	0	PLEKHB1	11	73362876	Frame_Shift_Del	DEL	TG	TCGA-HT-8105-01A-11D-2395-08	9365309	73362876	61643640	41	28976											
RSF1	51773	broad.mit.edu	37	11	77386296	77386296	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr11:77386296T>C	ENST00000308488.6	-	14	3649	c.3347A>G	c.(3346-3348)cAa>cGa	p.Q1116R	RSF1_ENST00000360355.2_Missense_Mutation_p.Q1085R|RSF1_ENST00000480887.1_Missense_Mutation_p.Q864R			Q96T23	RSF1_HUMAN	remodeling and spacing factor 1	1116					CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent	RSF complex	histone binding|protein binding|zinc ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)			AAACTCATCTTGAGATCTGTC	0.393													17	20					0	0	1	0	0	C	77386296	T	C	77386296	3	2	298	1	0	0	0	0	1	0	0	0	13751	1812	63	3	990	3	RSF1	11	77386296	Missense_Mutation	SNP	T	TCGA-HT-8105-01A-11D-2395-08	4023420	77386296	57620220	42	28977											
AMOTL1	154810	broad.mit.edu	37	11	94554698	94554698	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr11:94554698G>A	ENST00000433060.2	+	4	1265	c.1124G>A	c.(1123-1125)cGc>cAc	p.R375H	AMOTL1_ENST00000539727.1_3'UTR|AMOTL1_ENST00000317837.9_Missense_Mutation_p.R375H|AMOTL1_ENST00000317829.8_Missense_Mutation_p.R325H	NM_130847.2	NP_570899.1	Q8IY63	AMOL1_HUMAN	angiomotin like 1	375						cytoplasm|tight junction	identical protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	36		Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824)				CCTTGCAGCCGCCCATGCCAA	0.602													3	42					0	0	1	0	0	A	94554698	G	A	94554698	3	1	298	1	0	0	0	0	1	0	0	0	579	1087	38	1	1138	1	AMOTL1	11	94554698	Missense_Mutation	SNP	G	TCGA-HT-8105-01A-11D-2395-08	17168402	94554698	40451818	43	28978											
ABCC9	10060	broad.mit.edu	37	12	22069947	22069947	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr12:22069947C>T	ENST00000261200.4	-	4	496	c.497G>A	c.(496-498)cGt>cAt	p.R166H	ABCC9_ENST00000345162.2_Missense_Mutation_p.R166H|ABCC9_ENST00000261201.4_Missense_Mutation_p.R166H	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	166					defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	GATGCAGAAACGCAGGTTTGA	0.418													35	182					0	0	1	0	0	T	22069947	C	T	22069947	3	4	298	1	0	0	0	0	1	0	0	0	59	536	19	1	4434	1	ABCC9	12	22069947	Missense_Mutation	SNP	C	TCGA-HT-8105-01A-11D-2395-08		22069947	111781948	44	28979											
NAB2	4665	broad.mit.edu	37	12	57487287	57487287	+	Silent	SNP	A	A	G			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr12:57487287A>G	ENST00000300131.3	+	6	1752	c.1374A>G	c.(1372-1374)acA>acG	p.T458T	NAB2_ENST00000357680.4_3'UTR|NAB2_ENST00000342556.6_Intron	NM_005967.3	NP_005958.1	Q15742	NAB2_HUMAN	NGFI-A binding protein 2 (EGR1 binding protein 2)	458					cell proliferation|negative regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	nucleus	transcription corepressor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	20						TGCAGCAGACACTGATGGACG	0.687													6	8					0	0	1	0	0	G	57487287	A	G	57487287	2	3	298	1	0	0	0	0	0	0	0	1	10180	146	6	3		3	NAB2	12	57487287	Silent	SNP	A	TCGA-HT-8105-01A-11D-2395-08	35417340	57487287	76364608	45	28980											
CAPS2	84698	broad.mit.edu	37	12	75692508	75692508	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr12:75692508G>A	ENST00000393284.3	-	11	965	c.364C>T	c.(364-366)Cga>Tga	p.R122*	CAPS2_ENST00000409445.3_Nonsense_Mutation_p.R354*|CAPS2_ENST00000409799.1_Nonsense_Mutation_p.R272*|CAPS2_ENST00000409004.1_5'UTR|CAPS2_ENST00000442339.2_Intron			Q9BXY5	CAYP2_HUMAN	calcyphosine 2	354							calcium ion binding			endometrium(2)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	10						CCTTTTCTTCGTCCACACTGA	0.353													13	28					0	0	1	0	0	A	75692508	G	A	75692508	4	1	298	1	0	0	0	0	0	1	0	0	2656	1153	40	1	641	1	CAPS2	12	75692508	Nonsense_Mutation	SNP	G	TCGA-HT-8105-01A-11D-2395-08	18205221	75692508	58159387	46	28981											
DDX51	317781	broad.mit.edu	37	12	132626153	132626153	+	Splice_Site	SNP	T	T	C			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr12:132626153T>C	ENST00000397333.3	-	7	1034		c.e7-2			NM_175066.3	NP_778236.2	Q8N8A6	DDX51_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 51						rRNA processing	nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			endometrium(1)|lung(5)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	10	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.241)		OV - Ovarian serous cystadenocarcinoma(86;7.59e-08)|Epithelial(86;3.62e-07)|all cancers(50;2.13e-05)		CCATCAGCTCTACAGACCAGA	0.622													19	34					0	0	1	0	0	C	132626153	T	C	132626153	5	2	298	1	0	0	0	0	0	0	1	0	4392	1536	53	3	1042	3	DDX51	12	132626153	Splice_Site	SNP	T	TCGA-HT-8105-01A-11D-2395-08	56933645	132626153	1225742	47	28982											
SLITRK5	26050	broad.mit.edu	37	13	88329500	88329500	+	Silent	SNP	A	A	G			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr13:88329500A>G	ENST00000325089.6	+	2	2076	c.1857A>G	c.(1855-1857)gtA>gtG	p.V619V	SLITRK5_ENST00000400028.3_Silent_p.V378V	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	619						integral to membrane				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					CAGATGTAGTAGTTTCCACGC	0.592													18	202					0	0	1	0	0	G	88329500	A	G	88329500	2	3	298	1	0	0	0	0	0	0	0	1	14800	407	15	3		3	SLITRK5	13	88329500	Silent	SNP	A	TCGA-HT-8105-01A-11D-2395-08		88329500	26840378	48	28983											
TMTC4	84899	broad.mit.edu	37	13	101294549	101294549	+	Silent	SNP	C	C	T			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr13:101294549C>T	ENST00000342624.5	-	7	915	c.657G>A	c.(655-657)gcG>gcA	p.A219A	TMTC4_ENST00000462211.1_5'UTR|TMTC4_ENST00000328767.5_Silent_p.A89A|TMTC4_ENST00000376234.3_Silent_p.A200A	NM_032813.2	NP_116202.2	Q5T4D3	TMTC4_HUMAN	transmembrane and tetratricopeptide repeat containing 4	200						integral to membrane	binding			breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					TGGAAGAATGCGCTCCCTCCT	0.468													49	108					0	0	1	0	0	T	101294549	C	T	101294549	2	4	298	1	0	0	0	0	0	0	0	1	16323	755	27	1		1	TMTC4	13	101294549	Silent	SNP	C	TCGA-HT-8105-01A-11D-2395-08	12965049	101294549	13875329	49	28984											
TCF12	6938	broad.mit.edu	37	15	57484478	57484479	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr15:57484478_57484479delCT	ENST00000267811.5	+	7	817_818	c.513_514delCT	c.(511-516)gactctfs	p.S172fs	TCF12_ENST00000438423.2_Frame_Shift_Del_p.S172fs|TCF12_ENST00000333725.5_Frame_Shift_Del_p.S172fs|TCF12_ENST00000557843.1_Frame_Shift_Del_p.S172fs|TCF12_ENST00000452095.2_Frame_Shift_Del_p.S168fs	NM_003205.3|NM_207038.1	NP_003196.1|NP_996921.1	Q99081	HTF4_HUMAN	transcription factor 12	172					immune response|muscle organ development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity		TCF12/NR4A3(2)	breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	36		Colorectal(260;0.0907)		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)		CACTCCATGACTCTGCAGCGCT	0.46			T	TEC	extraskeletal myxoid chondrosarcoma								40	84	---	---	---	---						-	57484479	CT	-	57484478	7	5	298	1	0	1	0	1	0	0	0	0	15747	564	20	0	535	0	TCF12	15	57484478	Frame_Shift_Del	DEL	CT	TCGA-HT-8105-01A-11D-2395-08		57484478	45046914	50	28985											
CCDC33	80125	broad.mit.edu	37	15	74623086	74623086	+	Silent	SNP	G	G	A			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr15:74623086G>A	ENST00000321288.5	+	15	2148	c.2148G>A	c.(2146-2148)ctG>ctA	p.L716L	CCDC33_ENST00000398814.3_Silent_p.L513L|CCDC33_ENST00000268082.4_Silent_p.L106L|CCDC33_ENST00000558821.1_Silent_p.L106L			Q8N5R6	CCD33_HUMAN	coiled-coil domain containing 33	716							protein binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						AGAATGAGCTGATTCGAGTGA	0.567													31	45					0	0	1	0	0	A	74623086	G	A	74623086	2	1	298	1	0	0	0	0	0	0	0	1	2825	1277	45	2		2	CCDC33	15	74623086	Silent	SNP	G	TCGA-HT-8105-01A-11D-2395-08	17138608	74623086	27908306	51	28986											
WDR90	197335	broad.mit.edu	37	16	709106	709106	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr16:709106delC	ENST00000549091.1	+	25	3124	c.3032delC	c.(3031-3033)gccfs	p.A1011fs	WDR90_ENST00000293879.4_Frame_Shift_Del_p.A1011fs	NM_145294.4	NP_660337.3	Q96KV7	WDR90_HUMAN	WD repeat domain 90	1011										endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				TTCCCCGGGGCCCCCCCAGCC	0.657													7	148	---	---	---	---						-	709106	C	-	709106	7	5	298	1	0	1	0	1	0	0	0	0	17397	739	26	0	3130	0	WDR90	16	709106	Frame_Shift_Del	DEL	C	TCGA-HT-8105-01A-11D-2395-08		709106	89645647	52	28987											
MYH11	4629	broad.mit.edu	37	16	15820745	15820745	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr16:15820745C>T	ENST00000452625.2	-	29	3926	c.3839G>A	c.(3838-3840)cGg>cAg	p.R1280Q	MYH11_ENST00000396324.3_Missense_Mutation_p.R1280Q|MYH11_ENST00000300036.5_Missense_Mutation_p.R1273Q|MYH11_ENST00000576790.2_Missense_Mutation_p.R1273Q|AF001548.5_ENST00000574212.1_RNA	NM_001040113.1	NP_001035202.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	1273					axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						CGCCCGGGCCCGCTCCCCATC	0.647			T	CBFB	AML								87	105					0	0	1	0	0	T	15820745	C	T	15820745	3	4	298	1	0	0	0	0	1	0	0	0	10079	652	23	1	2191	1	MYH11	16	15820745	Missense_Mutation	SNP	C	TCGA-HT-8105-01A-11D-2395-08	15111639	15820745	74534008	53	28988											
CNGB1	1258	broad.mit.edu	37	16	57918281	57918281	+	Silent	SNP	G	G	A			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr16:57918281G>A	ENST00000564448.1	-	33	3585	c.3525C>T	c.(3523-3525)acC>acT	p.T1175T	CNGB1_ENST00000251102.8_Silent_p.T1181T			Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1	1181					sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						CGGGTGGGTCGGTGGCGGCCT	0.716													7	59					0	0	1	0	0	A	57918281	G	A	57918281	2	1	298	1	0	0	0	0	0	0	0	1	3623	1103	39	1		1	CNGB1	16	57918281	Silent	SNP	G	TCGA-HT-8105-01A-11D-2395-08	42097536	57918281	32436472	54	28989											
KCNG4	93107	broad.mit.edu	37	16	84270707	84270707	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr16:84270707C>T	ENST00000568181.1	-	2	505	c.385G>A	c.(385-387)Gcc>Acc	p.A129T	KCNG4_ENST00000308251.4_Missense_Mutation_p.A129T			Q8TDN1	KCNG4_HUMAN	potassium voltage-gated channel, subfamily G, member 4	129						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	31						AGCTTCCCGGCCGCCAGGAAG	0.637													28	57					0	0	1	0	0	T	84270707	C	T	84270707	3	4	298	1	0	0	0	0	1	0	0	0	8074	739	26	2	1180	2	KCNG4	16	84270707	Missense_Mutation	SNP	C	TCGA-HT-8105-01A-11D-2395-08	26352426	84270707	6084046	55	28990											
KCNG4	93107	broad.mit.edu	37	16	84270753	84270755	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr16:84270753_84270755delGAA	ENST00000568181.1	-	2	457_459	c.337_339delTTC	c.(337-339)ttcdel	p.F113del	KCNG4_ENST00000308251.4_In_Frame_Del_p.F113del			Q8TDN1	KCNG4_HUMAN	potassium voltage-gated channel, subfamily G, member 4	113						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	31						GGCTCCTGTCGAAGAAGAACTCC	0.626													28	73	---	---	---	---						-	84270755	GAA	-	84270753	7	5	298	1	0	1	0	1	0	0	0	0	8074	1049	37	0	1226	0	KCNG4	16	84270753	In_Frame_Del	DEL	GAA	TCGA-HT-8105-01A-11D-2395-08	46	84270753	6084000	56	28991											
TP53	7157	broad.mit.edu	37	17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	rs121913343		TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr17:7577121G>A	ENST00000420246.2	-	8	949	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron|TP53_ENST00000269305.4_Missense_Mutation_p.R273C|TP53_ENST00000455263.2_Missense_Mutation_p.R273C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	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).		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.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			14	26					0	0	1	0	0	A	7577121	G	A	7577121	3	1	298	1	0	0	0	0	1	0	0	0	16442	1087	38	1	469	1	TP53	17	7577121	Missense_Mutation	SNP	G	TCGA-HT-8105-01A-11D-2395-08		7577121	73618089	57	28992											
SREBF1	6720	broad.mit.edu	37	17	17717630	17717630	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr17:17717630T>C	ENST00000355815.4	-	17	3089	c.2920A>G	c.(2920-2922)Atc>Gtc	p.I974V	SREBF1_ENST00000395757.1_Missense_Mutation_p.I690V|SREBF1_ENST00000338854.5_Missense_Mutation_p.I944V|SREBF1_ENST00000261646.5_Missense_Mutation_p.I944V	NM_001005291.2	NP_001005291.1	P36956	SRBP1_HUMAN	sterol regulatory element binding transcription factor 1	944					cellular response to starvation|cholesterol metabolic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter	endoplasmic reticulum|endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleus	protein binding|sequence-specific DNA binding transcription factor activity|sterol response element binding			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	14						TTCTCACAGATGGTCAGGCTG	0.657													6	5					0	0	1	0	0	C	17717630	T	C	17717630	3	2	298	1	0	0	0	0	1	0	0	0	15197	1464	51	3	629	3	SREBF1	17	17717630	Missense_Mutation	SNP	T	TCGA-HT-8105-01A-11D-2395-08	10140509	17717630	63477580	58	28993			1	32		2	2	21	N	T_G	4.651545e-05
SREBF1	6720	broad.mit.edu	37	17	17717650	17717650	+	Missense_Mutation	SNP	G	G	C			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr17:17717650G>C	ENST00000355815.4	-	17	3069	c.2900C>G	c.(2899-2901)tCt>tGt	p.S967C	SREBF1_ENST00000395757.1_Missense_Mutation_p.S683C|SREBF1_ENST00000338854.5_Missense_Mutation_p.S937C|SREBF1_ENST00000261646.5_Missense_Mutation_p.S937C	NM_001005291.2	NP_001005291.1	P36956	SRBP1_HUMAN	sterol regulatory element binding transcription factor 1	937					cellular response to starvation|cholesterol metabolic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter	endoplasmic reticulum|endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleus	protein binding|sequence-specific DNA binding transcription factor activity|sterol response element binding			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	14						GGCTGGACCAGACTCTGCCTT	0.642													6	5					0	0	1	0	0	C	17717650	G	C	17717650	3	2	298	1	0	0	0	0	1	0	0	0	15197	942	33	4	649	4	SREBF1	17	17717650	Missense_Mutation	SNP	G	TCGA-HT-8105-01A-11D-2395-08	20	17717650	63477560	59	28994			1	32		2	2	21	N	T_G	4.651545e-05
SSH2	85464	broad.mit.edu	37	17	27975227	27975227	+	Silent	SNP	C	C	T			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr17:27975227C>T	ENST00000269033.3	-	13	1432	c.1281G>A	c.(1279-1281)acG>acA	p.T427T	SSH2_ENST00000540801.1_Silent_p.T454T|RP11-68I3.2_ENST00000581474.1_RNA	NM_001282129.1|NM_033389.2	NP_001269058.1|NP_203747.2	Q76I76	SSH2_HUMAN	slingshot protein phosphatase 2	427	Tyrosine-protein phosphatase.				actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity		SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GCTTGGTTACCGTTCGTCTTT	0.502													4	113					0	0	1	0	0	T	27975227	C	T	27975227	2	4	298	1	0	0	0	0	0	0	0	1	15241	639	23	1		1	SSH2	17	27975227	Silent	SNP	C	TCGA-HT-8105-01A-11D-2395-08	10257577	27975227	53219983	60	28995											
RPL23	9349	broad.mit.edu	37	17	37006642	37006642	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr17:37006642T>C	ENST00000479035.2	-	4	445	c.313A>G	c.(313-315)Ata>Gta	p.I105V	RPL23_ENST00000577407.1_Missense_Mutation_p.I105V|RPL23_ENST00000245857.5_Missense_Mutation_p.I46V|RPL23_ENST00000394333.1_Intron|RPL23_ENST00000394332.1_Missense_Mutation_p.I105V	NM_000978.3	NP_000969.1	P62829	RL23_HUMAN	ribosomal protein L23	105					endocrine pancreas development|ribosomal protein import into nucleus|translational elongation|translational termination|viral transcription	cytosol|ribosome	protein binding|structural constituent of ribosome			endometrium(2)|large_intestine(1)	3						TTGTTCACTATGACTCCTGCA	0.423													42	64					0	0	1	0	0	C	37006642	T	C	37006642	3	2	298	1	0	0	0	0	1	0	0	0	13622	1464	51	3	117	3	RPL23	17	37006642	Missense_Mutation	SNP	T	TCGA-HT-8105-01A-11D-2395-08	9031415	37006642	44188568	61	28996											
KRT37	8688	broad.mit.edu	37	17	39579137	39579137	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr17:39579137C>T	ENST00000225550.3	-	3	624	c.625G>A	c.(625-627)Ggg>Agg	p.G209R	AC003958.2_ENST00000432258.1_RNA	NM_003770.4	NP_003761.3	O76014	KRT37_HUMAN	keratin 37	209	Coil 1B.|Rod.					intermediate filament	structural molecule activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	25		Breast(137;0.000496)				TTCTGCGTCCCGCACTTGTCC	0.627													4	140					0	0	1	0	0	T	39579137	C	T	39579137	3	4	298	1	0	0	0	0	1	0	0	0	8517	652	23	1	744	1	KRT37	17	39579137	Missense_Mutation	SNP	C	TCGA-HT-8105-01A-11D-2395-08	2572495	39579137	41616073	62	28997											
NAGLU	4669	broad.mit.edu	37	17	40695939	40695939	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr17:40695939G>T	ENST00000225927.2	+	6	2016	c.1915G>T	c.(1915-1917)Gag>Tag	p.E639*	RP11-400F19.8_ENST00000585572.1_RNA	NM_000263.3	NP_000254.2	P54802	ANAG_HUMAN	N-acetylglucosaminidase, alpha	639						lysosome	alpha-N-acetylglucosaminidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(1)|ovary(2)|skin(1)	12		all_cancers(22;1.58e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)		BRCA - Breast invasive adenocarcinoma(366;0.13)	N-Acetyl-D-glucosamine(DB00141)	CGATTTCTACGAGCAGAACAG	0.617													5	12					0.0215528	0.0218222	1	1	0	T	40695939	G	T	40695939	4	4	298	1	0	0	0	0	0	1	0	0	10191	1059	37	5	1937	5	NAGLU	17	40695939	Nonsense_Mutation	SNP	G	TCGA-HT-8105-01A-11D-2395-08	1116802	40695939	40499271	63	28998											
G6PC	2538	broad.mit.edu	37	17	41063361	41063361	+	Missense_Mutation	SNP	C	C	T	rs149486847		TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr17:41063361C>T	ENST00000253801.2	+	5	1071	c.992C>T	c.(991-993)gCg>gTg	p.A331V	G6PC_ENST00000585489.1_3'UTR	NM_000151.3	NP_000142.2	P35575	G6PC_HUMAN	glucose-6-phosphatase, catalytic subunit	331					gluconeogenesis|glucose homeostasis|transmembrane transport	integral to endoplasmic reticulum membrane	glucose-6-phosphatase activity|phosphate binding	p.A331V(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)	23		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.113)		TGCAAGAGTGCGGTAGTGCCC	0.572													91	112					0	0	1	0	0	T	41063361	C	T	41063361	3	4	298	1	0	0	0	0	1	0	0	0	6178	768	27	1	1010	1	G6PC	17	41063361	Missense_Mutation	SNP	C	TCGA-HT-8105-01A-11D-2395-08	367422	41063361	40131849	64	28999											
EFTUD2	9343	broad.mit.edu	37	17	42949920	42949920	+	Missense_Mutation	SNP	C	C	A			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr17:42949920C>A	ENST00000426333.2	-	11	1185	c.888G>T	c.(886-888)gaG>gaT	p.E296D	EFTUD2_ENST00000592576.1_Missense_Mutation_p.E286D|EFTUD2_ENST00000591382.1_Missense_Mutation_p.E296D|EFTUD2_ENST00000402521.3_Missense_Mutation_p.E261D	NM_001142605.1|NM_001258354.1|NM_004247.3	NP_001136077.1|NP_001245283.1|NP_004238.3	Q15029	U5S1_HUMAN	elongation factor Tu GTP binding domain containing 2	296						Cajal body|catalytic step 2 spliceosome|cytoplasm|nuclear speck	GTP binding|GTPase activity|protein binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	32		Prostate(33;0.109)				GGATCAGGTTCTCATCAGTGG	0.562													94	145					9.15355e-43	9.75576e-43	1	1	0	A	42949920	C	A	42949920	3	1	298	1	0	0	0	0	1	0	0	0	4987	912	32	4	2102	4	EFTUD2	17	42949920	Missense_Mutation	SNP	C	TCGA-HT-8105-01A-11D-2395-08	1886559	42949920	38245290	65	29000											
LAMA3	3909	broad.mit.edu	37	18	21437924	21437924	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr18:21437924A>G	ENST00000313654.9	+	33	4494	c.4253A>G	c.(4252-4254)gAc>gGc	p.D1418G	LAMA3_ENST00000399516.3_Missense_Mutation_p.D1418G	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	1418	Domain III B.|Laminin EGF-like 12.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GGAGTGTGTGACCCAGGGACC	0.552													4	111					0	0	1	0	0	G	21437924	A	G	21437924	3	3	298	1	0	0	0	0	1	0	0	0	8646	275	10	3	4383	3	LAMA3	18	21437924	Missense_Mutation	SNP	A	TCGA-HT-8105-01A-11D-2395-08		21437924	56639324	66	29001											
ZNF521	25925	broad.mit.edu	37	18	22807299	22807299	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr18:22807299T>C	ENST00000361524.3	-	4	731	c.583A>G	c.(583-585)Act>Gct	p.T195A	ZNF521_ENST00000538137.2_Missense_Mutation_p.T195A|ZNF521_ENST00000584787.1_5'UTR	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	195					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					GACGTGTGAGTCTTTAAGTGG	0.468			T	PAX5	ALL								5	62					0	0	1	0	0	C	22807299	T	C	22807299	3	2	298	1	0	0	0	0	1	0	0	0	18022	1667	58	3	3372	3	ZNF521	18	22807299	Missense_Mutation	SNP	T	TCGA-HT-8105-01A-11D-2395-08	1369375	22807299	55269949	67	29002											
LMAN1	3998	broad.mit.edu	37	18	57006123	57006123	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr18:57006123G>A	ENST00000251047.5	-	9	1735	c.1018C>T	c.(1018-1020)Cgt>Tgt	p.R340C		NM_005570.3	NP_005561.1	P49257	LMAN1_HUMAN	lectin, mannose-binding, 1	340					blood coagulation|ER to Golgi vesicle-mediated transport|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|protein transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane	mannose binding|metal ion binding|unfolded protein binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16		Colorectal(73;0.0946)			Antihemophilic Factor(DB00025)	AGATGAATACGATTCTGTCCT	0.373													5	104					0	0	1	0	0	A	57006123	G	A	57006123	3	1	298	1	0	0	0	0	1	0	0	0	8877	1058	37	1	534	1	LMAN1	18	57006123	Missense_Mutation	SNP	G	TCGA-HT-8105-01A-11D-2395-08	34198824	57006123	21071125	68	29003											
OR7A5	26659	broad.mit.edu	37	19	14938184	14938184	+	Silent	SNP	A	A	G			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr19:14938184A>G	ENST00000322301.3	-	2	957	c.870T>C	c.(868-870)taT>taC	p.Y290Y	OR7A5_ENST00000601611.1_Intron|OR7A5_ENST00000594432.1_Silent_p.Y290Y			Q15622	OR7A5_HUMAN	olfactory receptor, family 7, subfamily A, member 5	290					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Y290Y(2)		breast(1)|central_nervous_system(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26						TCCTCAGACTATAGATAAAGG	0.478													4	105					0	0	1	0	0	G	14938184	A	G	14938184	2	3	298	1	0	0	0	0	0	0	0	1	11263	456	16	3		3	OR7A5	19	14938184	Silent	SNP	A	TCGA-HT-8105-01A-11D-2395-08		14938184	44190799	69	29004											
CIC	23152	broad.mit.edu	37	19	42794910	42794911	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr19:42794910_42794911delCT	ENST00000572681.2	+	11	4785_4786	c.4717_4718delCT	c.(4717-4719)ctgfs	p.L1573fs	CIC_ENST00000575354.2_Frame_Shift_Del_p.L664fs|CIC_ENST00000160740.3_Frame_Shift_Del_p.L664fs			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	664	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				AGCAGCTCCCCTGTCCCGTCCT	0.688			"Mis, F, S"		oligodendroglioma								17	9	---	---	---	---						-	42794911	CT	-	42794910	7	5	298	1	0	1	0	1	0	0	0	0	3446	680	24	0	2028	0	CIC	19	42794910	Frame_Shift_Del	DEL	CT	TCGA-HT-8105-01A-11D-2395-08	27856726	42794910	16334073	70	29005											
SIRPD	128646	broad.mit.edu	37	20	1517874	1517874	+	Silent	SNP	C	C	T			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr20:1517874C>T	ENST00000381623.3	-	3	1693	c.504G>A	c.(502-504)tcG>tcA	p.S168S	SIRPD_ENST00000381621.1_Silent_p.S169S			Q9H106	SIRPD_HUMAN	signal-regulatory protein delta	168						extracellular region				breast(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)	15						CAGGCAGGGCCGAGAGGCAGG	0.592													60	104					0	0	1	0	0	T	1517874	C	T	1517874	2	4	298	1	0	0	0	0	0	0	0	1	14390	639	23	1		1	SIRPD	20	1517874	Silent	SNP	C	TCGA-HT-8105-01A-11D-2395-08		1517874	61507646	71	29006											
CRLF2	64109	broad.mit.edu	37	X	1317467	1317467	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chrX:1317467G>T	ENST00000381567.3	-	5	597	c.598C>A	c.(598-600)Cca>Aca	p.P200T	CRLF2_ENST00000467626.1_Intron	NM_022148.2	NP_071431.2	Q9HC73	CRLF2_HUMAN	cytokine receptor-like factor 2	200	Fibronectin type-III.					extracellular region|integral to membrane|plasma membrane	receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(10)|lung(9)	20		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				CAGTCGCTTGGGTATGTGTCT	0.532			"Mis, T"	"P2RY8, IGH@"	"B-ALL, Downs associated ALL"								67	103					1.46168e-27	1.53761e-27	1	1	0	T	1317467	G	T	1317467	3	4	298	1	0	0	0	0	1	0	0	0	3910	1232	43	5	183	5	CRLF2	23	1317467	Missense_Mutation	SNP	G	TCGA-HT-8105-01A-11D-2395-08		1317467	153953093	72	29007											
MYCBP	26292	broad.mit.edu	37	1	39330370	39330370	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr1:39330370G>A	ENST00000397572.2	-	5	1083	c.284C>T	c.(283-285)cCa>cTa	p.P95L	RP5-864K19.4_ENST00000433671.2_RNA|MYCBP_ENST00000489803.1_5'UTR|GJA9_ENST00000454994.2_3'UTR|RP5-864K19.4_ENST00000456813.1_RNA	NM_012333.4	NP_036465.2	Q99417	MYCBP_HUMAN	MYC binding protein	95					regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	mitochondrion|nucleus	protein binding|transcription coactivator activity			large_intestine(1)|lung(1)|skin(1)	3	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)				CTCCTGAGGTGGTTCATACTG	0.328													9	47					0	0	1	0	0	A	39330370	G	A	39330370	3	1	299	1	0	0	0	0	1	0	0	0	10065	1348	47	2	31	2	MYCBP	1	39330370	Missense_Mutation	SNP	G	TCGA-HT-8106-01A-11D-2395-08		39330370	209920251	1	29008											
TIE1	7075	broad.mit.edu	37	1	43783268	43783268	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr1:43783268C>T	ENST00000372476.3	+	16	2733	c.2654C>T	c.(2653-2655)gCg>gTg	p.A885V	TIE1_ENST00000473014.1_3'UTR|TIE1_ENST00000433781.2_Missense_Mutation_p.A530V	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	885	Protein kinase.				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CGTGACTTTGCGGGAGAACTG	0.502													5	257					0	0	1	0	0	T	43783268	C	T	43783268	3	4	299	1	0	0	0	0	1	0	0	0	15953	768	27	1	2716	1	TIE1	1	43783268	Missense_Mutation	SNP	C	TCGA-HT-8106-01A-11D-2395-08	4452898	43783268	205467353	2	29009											
SCN1A	6323	broad.mit.edu	37	2	166897764	166897764	+	Missense_Mutation	SNP	T	T	A			TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr2:166897764T>A	ENST00000423058.2	-	13	2409	c.2392A>T	c.(2392-2394)Aat>Tat	p.N798Y	AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.N770Y|SCN1A_ENST00000303395.4_Missense_Mutation_p.N798Y|AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595268.1_RNA|SCN1A_ENST00000375405.3_Missense_Mutation_p.N787Y	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	798						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	GTAAGCACATTATTGAAATGG	0.363													18	60					0	0	1	0	0	A	166897764	T	A	166897764	3	1	299	1	0	0	0	0	1	0	0	0	13968	1754	61	5	3693	5	SCN1A	2	166897764	Missense_Mutation	SNP	T	TCGA-HT-8106-01A-11D-2395-08		166897764	76301609	3	29010											
TTN	7273	broad.mit.edu	37	2	179585690	179585690	+	Missense_Mutation	SNP	C	C	A			TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr2:179585690C>A	ENST00000589042.1	-	79	23280	c.23056G>T	c.(23056-23058)Ggt>Tgt	p.G7686C	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.G6442C|TTN_ENST00000591111.1_Missense_Mutation_p.G7369C|TTN_ENST00000342175.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	7369	Ig-like 59.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCACCAACACCATTATGAGCC	0.433													5	60					0.014758	0.014758	1	1	0	A	179585690	C	A	179585690	3	1	299	1	0	0	0	0	1	0	0	0	16797	594	21	5	81609	5	TTN	2	179585690	Missense_Mutation	SNP	C	TCGA-HT-8106-01A-11D-2395-08	12687926	179585690	63613683	4	29011											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	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	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								11	48					0	0	1	0	0	T	209113112	C	T	209113112	3	4	299	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HT-8106-01A-11D-2395-08	29527422	209113112	34086261	5	29012											
TRANK1	9881	broad.mit.edu	37	3	36875229	36875229	+	Silent	SNP	A	A	G			TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr3:36875229A>G	ENST00000301807.6	-	21	5960	c.4063T>C	c.(4063-4065)Tta>Cta	p.L1355L	TRANK1_ENST00000428977.2_Silent_p.L1355L|TRANK1_ENST00000429976.2_Silent_p.L1905L			O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	1905					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						GCTTCTGCTAAGCGTTTCCGA	0.512													8	107					0	0	1	0	0	G	36875229	A	G	36875229	2	3	299	1	0	0	0	0	0	0	0	1	16515	69	3	3		3	TRANK1	3	36875229	Silent	SNP	A	TCGA-HT-8106-01A-11D-2395-08		36875229	161147201	6	29013											
ITIH3	3699	broad.mit.edu	37	3	52836815	52836815	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr3:52836815G>A	ENST00000449956.2	+	13	1708	c.1702G>A	c.(1702-1704)Gag>Aag	p.E568K	ITIH3_ENST00000416872.2_Intron	NM_002217.3	NP_002208.3	Q06033	ITIH3_HUMAN	inter-alpha-trypsin inhibitor heavy chain 3	568					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(6)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		GCAGCTGCTGGAGAAGCGGTG	0.622													4	33					0	0	1	0	0	A	52836815	G	A	52836815	3	1	299	1	0	0	0	0	1	0	0	0	7949	1175	41	2	1752	2	ITIH3	3	52836815	Missense_Mutation	SNP	G	TCGA-HT-8106-01A-11D-2395-08	15961586	52836815	145185615	7	29014											
NKX3-2	579	broad.mit.edu	37	4	13543758	13543758	+	Silent	SNP	G	G	C			TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr4:13543758G>C	ENST00000382438.5	-	2	1496	c.861C>G	c.(859-861)cgC>cgG	p.R287R		NM_001189.3	NP_001180.1	P78367	NKX32_HUMAN	NK3 homeobox 2	287					negative regulation of chondrocyte differentiation|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|large_intestine(1)|lung(4)|prostate(1)	7						TCTGGTCGTCGCGCACCAGCA	0.647													7	19					0	0	1	0	0	C	13543758	G	C	13543758	2	2	299	1	0	0	0	0	0	0	0	1	10503	1074	38	5		5	NKX3-2	4	13543758	Silent	SNP	G	TCGA-HT-8106-01A-11D-2395-08		13543758	177610518	8	29015											
RBPJ	3516	broad.mit.edu	37	4	26432517	26432517	+	Missense_Mutation	SNP	A	A	G	rs1064404		TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr4:26432517A>G	ENST00000342320.4	+	11	1525	c.1349A>G	c.(1348-1350)aAt>aGt	p.N450S	RBPJ_ENST00000504907.1_3'UTR|RBPJ_ENST00000361572.6_Missense_Mutation_p.N464S|RBPJ_ENST00000348160.4_Missense_Mutation_p.N451S|RBPJ_ENST00000355476.3_Missense_Mutation_p.N450S|RBPJ_ENST00000345843.3_Missense_Mutation_p.N449S|RBPJ_ENST00000342295.1_Missense_Mutation_p.N464S|RBPJ_ENST00000507561.1_Missense_Mutation_p.N429S			Q06330	SUH_HUMAN	recombination signal binding protein for immunoglobulin kappa J region	464					DNA recombination|negative regulation of transcription, DNA-dependent|positive regulation of transcription of Notch receptor target	cytoplasm|nucleolus|nucleoplasm	DNA binding|protein binding|recombinase activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)	15		Breast(46;0.0503)				CTTCGAGCCAATTCAAGCCAG	0.498													8	84					0	0	1	0	0	G	26432517	A	G	26432517	3	3	299	1	0	0	0	0	1	0	0	0	13213	101	4	3	1496	3	RBPJ	4	26432517	Missense_Mutation	SNP	A	TCGA-HT-8106-01A-11D-2395-08	12888759	26432517	164721759	9	29016											
FAT4	79633	broad.mit.edu	37	4	126239282	126239282	+	Silent	SNP	C	C	G			TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr4:126239282C>G	ENST00000394329.3	+	1	1729	c.1716C>G	c.(1714-1716)ctC>ctG	p.L572L		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	572	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TAGTAACTCTCCTAGATGTGA	0.498											OREG0016317	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	58					0	0	1	0	0	G	126239282	C	G	126239282	2	3	299	1	0	0	0	0	0	0	0	1	5725	842	30	5		5	FAT4	4	126239282	Silent	SNP	C	TCGA-HT-8106-01A-11D-2395-08	99806765	126239282	64914994	10	29017											
DCLK2	166614	broad.mit.edu	37	4	151153981	151153981	+	Splice_Site	SNP	G	G	A			TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr4:151153981G>A	ENST00000296550.7	+	10	2320		c.e10+1		DCLK2_ENST00000506325.1_Splice_Site|DCLK2_ENST00000302176.8_Splice_Site	NM_001040260.3	NP_001035350.2	Q8N568	DCLK2_HUMAN	doublecortin-like kinase 2						intracellular signal transduction	cytoplasm|cytoskeleton	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					GAATCTCTTGGTATGTCATCC	0.438													9	112					0	0	1	0	0	A	151153981	G	A	151153981	5	1	299	1	0	0	0	0	0	0	1	0	4315	1275	44	2	1605	2	DCLK2	4	151153981	Splice_Site	SNP	G	TCGA-HT-8106-01A-11D-2395-08	24914699	151153981	40000295	11	29018											
CRHBP	1393	broad.mit.edu	37	5	76259212	76259212	+	Silent	SNP	G	G	A			TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr5:76259212G>A	ENST00000274368.4	+	6	1160	c.738G>A	c.(736-738)ctG>ctA	p.L246L	CRHBP_ENST00000514258.1_3'UTR	NM_001882.3	NP_001873.2	P24387	CRHBP_HUMAN	corticotropin releasing hormone binding protein	246					female pregnancy|learning or memory|signal transduction	soluble fraction				kidney(3)|large_intestine(4)|lung(6)|prostate(1)|skin(2)	16		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;2.17e-51)|Epithelial(54;8.79e-46)|all cancers(79;2.49e-41)		TTGTGGAGCTGCTGGGAGGAA	0.458													9	104					0	0	1	0	0	A	76259212	G	A	76259212	2	1	299	1	0	0	0	0	0	0	0	1	3893	1306	46	2		2	CRHBP	5	76259212	Silent	SNP	G	TCGA-HT-8106-01A-11D-2395-08		76259212	104656048	12	29019											
PCDHB3	56132	broad.mit.edu	37	5	140480508	140480508	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr5:140480508G>A	ENST00000231130.2	+	1	275	c.275G>A	c.(274-276)cGg>cAg	p.R92Q	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN		92	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AAATTGGACCGGGAGGAGCTA	0.483													10	104					0	0	1	0	0	A	140480508	G	A	140480508	3	1	299	1	0	0	0	0	1	0	0	0	11590	1116	39	1	277	1	PCDHB3	5	140480508	Missense_Mutation	SNP	G	TCGA-HT-8106-01A-11D-2395-08	64221296	140480508	40434752	13	29020											
LSM11	134353	broad.mit.edu	37	5	157178479	157178479	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr5:157178479A>G	ENST00000286307.5	+	2	586	c.530A>G	c.(529-531)aAg>aGg	p.K177R		NM_173491.2	NP_775762.1	P83369	LSM11_HUMAN	LSM11, U7 small nuclear RNA associated	177	SM 1.				histone mRNA 3'-end processing|S phase of mitotic cell cycle|termination of RNA polymerase II transcription	histone pre-mRNA 3'end processing complex|nucleoplasm|U7 snRNP	protein binding|U7 snRNA binding			breast(1)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)	7	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CGCACTTTCAAGGGACTTCGG	0.507													7	90					0	0	1	0	0	G	157178479	A	G	157178479	3	3	299	1	0	0	0	0	1	0	0	0	9097	72	3	3	536	3	LSM11	5	157178479	Missense_Mutation	SNP	A	TCGA-HT-8106-01A-11D-2395-08	16697971	157178479	23736781	14	29021											
CRISP1	167	broad.mit.edu	37	6	49814258	49814258	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr6:49814258T>C	ENST00000335847.4	-	5	511	c.410A>G	c.(409-411)gAc>gGc	p.D137G	CRISP1_ENST00000507853.1_Missense_Mutation_p.D137G|CRISP1_ENST00000505118.1_Missense_Mutation_p.D137G|CRISP1_ENST00000355791.2_Missense_Mutation_p.D137G|CRISP1_ENST00000536021.1_Missense_Mutation_p.D137G|CRISP1_ENST00000329411.5_Missense_Mutation_p.D137G	NM_001131.2	NP_001122.2	P54107	CRIS1_HUMAN	cysteine-rich secretory protein 1	137					fusion of sperm to egg plasma membrane	extracellular space				endometrium(1)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|upper_aerodigestive_tract(1)	27	Lung NSC(77;0.0358)					AGTAGTTATGTCATCATCCGT	0.403													6	79					0	0	1	0	0	C	49814258	T	C	49814258	3	2	299	1	0	0	0	0	1	0	0	0	3902	1667	58	3	355	3	CRISP1	6	49814258	Missense_Mutation	SNP	T	TCGA-HT-8106-01A-11D-2395-08		49814258	121300809	15	29022											
TINAG	27283	broad.mit.edu	37	6	54254705	54254705	+	Silent	SNP	G	G	A			TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr6:54254705G>A	ENST00000259782.4	+	11	1509	c.1413G>A	c.(1411-1413)acG>acA	p.T471T		NM_014464.3	NP_055279.3	Q9UJW2	TINAG_HUMAN	tubulointerstitial nephritis antigen	471					cell adhesion|immune response|Malpighian tubule morphogenesis|proteolysis	basement membrane	cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34	Lung NSC(77;0.0518)		LUSC - Lung squamous cell carcinoma(124;0.246)			GCCAACTGACGAGTTCTGATG	0.408													9	123					0	0	1	0	0	A	54254705	G	A	54254705	2	1	299	1	0	0	0	0	0	0	0	1	15981	1045	37	1		1	TINAG	6	54254705	Silent	SNP	G	TCGA-HT-8106-01A-11D-2395-08	4440447	54254705	116860362	16	29023											
C6orf165	154313	broad.mit.edu	37	6	88125415	88125415	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr6:88125415G>A	ENST00000507897.1	+	5	378	c.295G>A	c.(295-297)Gaa>Aaa	p.E99K	C6ORF165_ENST00000369562.4_Missense_Mutation_p.E99K			Q8IYR0	CF165_HUMAN	chromosome 6 open reading frame 165	99										NS(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0419)		GGAATTTCTCGAAGAACATCA	0.363													3	48					0	0	1	0	0	A	88125415	G	A	88125415	3	1	299	1	0	0	0	0	1	0	0	0	2355	1059	37	1	309	1	C6orf165	6	88125415	Missense_Mutation	SNP	G	TCGA-HT-8106-01A-11D-2395-08	33870710	88125415	82989652	17	29024											
TBP	6908	broad.mit.edu	37	6	170871040	170871040	+	Silent	SNP	A	A	G	rs10592950		TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr6:170871040A>G	ENST00000392092.2	+	3	495	c.216A>G	c.(214-216)caA>caG	p.Q72Q	TBP_ENST00000540980.1_Silent_p.Q52Q|TBP_ENST00000230354.6_Silent_p.Q72Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	72	Poly-Gln.				cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction	transcription factor TFIIA complex|transcription factor TFIID complex	repressing transcription factor binding|transcription regulatory region DNA binding	p.Q72del(3)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		agcagcagcaacagcaacagc	0.567													4	68					0	0	1	0	0	G	170871040	A	G	170871040	2	3	299	1	0	0	0	0	0	0	0	1	15704	40	2	3		3	TBP	6	170871040	Silent	SNP	A	TCGA-HT-8106-01A-11D-2395-08	82745625	170871040	244027	18	29025											
MUC17	140453	broad.mit.edu	37	7	100679992	100679992	+	Missense_Mutation	SNP	G	G	T	rs148096926	byFrequency	TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr7:100679992G>T	ENST00000306151.4	+	3	5359	c.5295G>T	c.(5293-5295)gaG>gaT	p.E1765D		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1765	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TCAGTTCTGAGGCTAGCACCC	0.502													87	416					3.62344e-47	4.03925e-47	1	1	0	T	100679992	G	T	100679992	3	4	299	1	0	0	0	0	1	0	0	0	10022	991	35	4	5305	4	MUC17	7	100679992	Missense_Mutation	SNP	G	TCGA-HT-8106-01A-11D-2395-08		100679992	58458671	19	29026											
ST18	9705	broad.mit.edu	37	8	53079464	53079464	+	Silent	SNP	C	C	T	rs73587538	by1000genomes	TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr8:53079464C>T	ENST00000276480.7	-	11	1835	c.1152G>A	c.(1150-1152)ccG>ccA	p.P384P		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)	384						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				TGCGGTGGTGCGGGTAGAGCC	0.557													5	106					0	0	1	0	0	T	53079464	C	T	53079464	2	4	299	1	0	0	0	0	0	0	0	1	15268	755	27	1		1	ST18	8	53079464	Silent	SNP	C	TCGA-HT-8106-01A-11D-2395-08		53079464	93284558	20	29027											
NCOA2	10499	broad.mit.edu	37	8	71044226	71044226	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr8:71044226C>T	ENST00000452400.2	-	16	3351	c.3170G>A	c.(3169-3171)gGc>gAc	p.G1057D	NCOA2_ENST00000267974.4_Missense_Mutation_p.G145D	NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	1057					cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity		PAX3/NCOA2(4)|HEY1/NCOA2(10)	NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			TGGAGAACTGCCAAATGGCTG	0.453			T	"RUNXBP2, HEY1"	"AML, Chondrosarcoma"								3	25					0	0	1	0	0	T	71044226	C	T	71044226	3	4	299	1	0	0	0	0	1	0	0	0	10276	739	26	2	1256	2	NCOA2	8	71044226	Missense_Mutation	SNP	C	TCGA-HT-8106-01A-11D-2395-08	17964762	71044226	75319796	21	29028											
ROR2	4920	broad.mit.edu	37	9	94486641	94486641	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr9:94486641G>A	ENST00000375708.3	-	9	2333	c.2135C>T	c.(2134-2136)cCt>cTt	p.P712L	ROR2_ENST00000375715.1_Missense_Mutation_p.P572L|ROR2_ENST00000550066.1_5'UTR	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	712	Protein kinase.				negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						ATCGGGGCAAGGCAGCACCTG	0.642													4	55					0	0	1	0	0	A	94486641	G	A	94486641	3	1	299	1	0	0	0	0	1	0	0	0	13579	1000	35	2	700	2	ROR2	9	94486641	Missense_Mutation	SNP	G	TCGA-HT-8106-01A-11D-2395-08		94486641	46726790	22	29029											
RNF183	138065	broad.mit.edu	37	9	116060197	116060197	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr9:116060197G>A	ENST00000478815.1	-	1	1848	c.268C>T	c.(268-270)Cat>Tat	p.H90Y	RNF183_ENST00000441031.3_Missense_Mutation_p.H90Y|RNF183_ENST00000416588.2_Missense_Mutation_p.H90Y|RNF183_ENST00000297894.5_Missense_Mutation_p.H90Y			Q96D59	RN183_HUMAN	ring finger protein 183	90						integral to membrane	zinc ion binding			lung(1)|prostate(1)|skin(1)	3						AGGATGACATGGTGGGGCTCC	0.652													4	122					0	0	1	0	0	A	116060197	G	A	116060197	3	1	299	1	0	0	0	0	1	0	0	0	13519	1348	47	2	314	2	RNF183	9	116060197	Missense_Mutation	SNP	G	TCGA-HT-8106-01A-11D-2395-08	21573556	116060197	25153234	23	29030											
GAPVD1	26130	broad.mit.edu	37	9	128094894	128094894	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr9:128094894A>G	ENST00000470056.1	+	13	2574	c.2414A>G	c.(2413-2415)gAt>gGt	p.D805G	GAPVD1_ENST00000394083.2_Missense_Mutation_p.D784G|GAPVD1_ENST00000495955.1_Missense_Mutation_p.D805G|GAPVD1_ENST00000312123.9_Missense_Mutation_p.D784G|GAPVD1_ENST00000265956.4_Missense_Mutation_p.D805G|GAPVD1_ENST00000394105.2_Missense_Mutation_p.D805G|GAPVD1_ENST00000394104.2_Missense_Mutation_p.D805G|GAPVD1_ENST00000297933.6_Missense_Mutation_p.D805G			Q14C86	GAPD1_HUMAN	GTPase activating protein and VPS9 domains 1	805					endocytosis|regulation of protein transport|regulation of small GTPase mediated signal transduction|signal transduction	cytosol|endosome|membrane	GTPase activating protein binding|GTPase activator activity|guanyl-nucleotide exchange factor activity			central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						CCAGACATGGATGAAATAACT	0.448													14	58					0	0	1	0	0	G	128094894	A	G	128094894	3	3	299	1	0	0	0	0	1	0	0	0	6279	333	12	3	2460	3	GAPVD1	9	128094894	Missense_Mutation	SNP	A	TCGA-HT-8106-01A-11D-2395-08	12034697	128094894	13118537	24	29031											
MAN1B1	11253	broad.mit.edu	37	9	139996094	139996094	+	Silent	SNP	C	C	T			TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr9:139996094C>T	ENST00000371589.4	+	8	1297	c.1224C>T	c.(1222-1224)ctC>ctT	p.L408L	MAN1B1_ENST00000474902.1_Silent_p.L111L	NM_016219.4	NP_057303.2	Q9UKM7	MA1B1_HUMAN	mannosidase, alpha, class 1B, member 1	408					oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|endoplasmic reticulum quality control compartment|integral to membrane	alpha-mannosidase activity|calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			autonomic_ganglia(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2)	14	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;3.08e-05)|Epithelial(140;0.000513)		TCCGGGAGCTCTCCCGTCTCA	0.597													5	18					0	0	1	0	0	T	139996094	C	T	139996094	2	4	299	1	0	0	0	0	0	0	0	1	9262	900	32	2		2	MAN1B1	9	139996094	Silent	SNP	C	TCGA-HT-8106-01A-11D-2395-08	11901200	139996094	1217337	25	29032											
EBF3	253738	broad.mit.edu	37	10	131671806	131671806	+	Missense_Mutation	SNP	T	T	G			TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr10:131671806T>G	ENST00000368648.3	-	8	763	c.691A>C	c.(691-693)Aac>Cac	p.N231H	EBF3_ENST00000355311.5_Missense_Mutation_p.N231H	NM_001005463.2	NP_001005463.1	Q9H4W6	COE3_HUMAN	early B-cell factor 3	231					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding|protein binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	44		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)		OV - Ovarian serous cystadenocarcinoma(35;0.00513)		ACAAACATGTTGTCTGACACG	0.512													4	47					0	0	1	0	0	G	131671806	T	G	131671806	3	3	299	1	0	0	0	0	1	0	0	0	4908	1812	63	5	1000	5	EBF3	10	131671806	Missense_Mutation	SNP	T	TCGA-HT-8106-01A-11D-2395-08		131671806	3862941	26	29033											
JAKMIP3	282973	broad.mit.edu	37	10	133967332	133967332	+	Splice_Site	SNP	G	G	T			TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr10:133967332G>T	ENST00000298622.4	+	17	2274		c.e17+1		JAKMIP3_ENST00000477275.1_Splice_Site	NM_001105521.2	NP_001098991.1			Janus kinase and microtubule interacting protein 3											breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	31		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)		GAGCGAGAAGGTTGGTGGCAC	0.592													12	178					2.80697e-09	3.07862e-09	1	1	0	T	133967332	G	T	133967332	5	4	299	1	0	0	0	0	0	0	1	0	7986	1275	44	5	2203	5	JAKMIP3	10	133967332	Splice_Site	SNP	G	TCGA-HT-8106-01A-11D-2395-08	2295526	133967332	1567415	27	29034											
TH	7054	broad.mit.edu	37	11	2190969	2190969	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr11:2190969C>T	ENST00000381178.1	-	3	334	c.316G>A	c.(316-318)Gag>Aag	p.E106K	TH_ENST00000333684.5_Missense_Mutation_p.E79K|TH_ENST00000381175.1_Missense_Mutation_p.E102K|TH_ENST00000352909.3_Missense_Mutation_p.E75K	NM_199292.2	NP_954986.2	P07101	TY3H_HUMAN	tyrosine hydroxylase	106					dopamine biosynthetic process from tyrosine|embryonic camera-type eye morphogenesis|epinephrine biosynthetic process|eye photoreceptor cell development|heart morphogenesis|hormone biosynthetic process|learning|locomotory behavior|memory|neurotransmitter biosynthetic process|neurotransmitter secretion|norepinephrine biosynthetic process|pigmentation|regulation of heart contraction|response to ethanol|response to hypoxia|synaptic transmission, dopaminergic|visual perception	cytosol|internal side of plasma membrane|melanosome membrane|nucleus|perikaryon|smooth endoplasmic reticulum	protein binding|tyrosine 3-monooxygenase activity			NS(1)|endometrium(1)|large_intestine(1)|lung(7)|skin(1)	11		all_epithelial(84;1.46e-23)|Lung NSC(207;4.44e-11)|all_lung(207;1.11e-09)|Ovarian(85;1.78e-06)|Breast(177;1.78e-05)|Medulloblastoma(188;0.0208)|all_neural(188;0.0416)	Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239)	BRCA - Breast invasive adenocarcinoma(625;8.45e-09)|Lung(200;0.000152)|LUSC - Lung squamous cell carcinoma(625;0.00154)	L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Metyrosine(DB00765)|Tetrahydrobiopterin(DB00360)	CCCTCCTTCTCCTCAAAGGCC	0.692													6	53					0	0	1	0	0	T	2190969	C	T	2190969	3	4	299	1	0	0	0	0	1	0	0	0	15898	864	30	2	1318	2	TH	11	2190969	Missense_Mutation	SNP	C	TCGA-HT-8106-01A-11D-2395-08		2190969	132815547	28	29035											
MMP26	56547	broad.mit.edu	37	11	5012621	5012621	+	Missense_Mutation	SNP	T	T	A			TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr11:5012621T>A	ENST00000380390.1	+	5	706	c.490T>A	c.(490-492)Ttt>Att	p.F164I	MMP26_ENST00000300762.1_Missense_Mutation_p.F164I			Q9NRE1	MMP26_HUMAN	matrix metallopeptidase 26	164					collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(3)|stomach(1)	22		Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227)		Epithelial(150;1.33e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0287)|LUSC - Lung squamous cell carcinoma(625;0.191)		TGGTTGGCCCTTTGATGGGCC	0.463													53	192					0	0	1	0	0	A	5012621	T	A	5012621	3	1	299	1	0	0	0	0	1	0	0	0	9712	1609	56	5	504	5	MMP26	11	5012621	Missense_Mutation	SNP	T	TCGA-HT-8106-01A-11D-2395-08	2821652	5012621	129993895	29	29036											
BEST1	7439	broad.mit.edu	37	11	61724345	61724345	+	Silent	SNP	T	T	C			TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr11:61724345T>C	ENST00000449131.2	+	4	417	c.331T>C	c.(331-333)Ttg>Ctg	p.L111L	BEST1_ENST00000378043.4_Silent_p.L171L|BEST1_ENST00000378042.3_Silent_p.L111L|BEST1_ENST00000435278.2_Silent_p.L171L|BEST1_ENST00000534553.1_Intron|BEST1_ENST00000301774.9_Intron|BEST1_ENST00000526988.1_Silent_p.L65L	NM_001139443.1	NP_001132915.1	O76090	BEST1_HUMAN	bestrophin 1	171					response to stimulus|transepithelial chloride transport|visual perception	basolateral plasma membrane|chloride channel complex|cytosol|membrane fraction	chloride channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|skin(2)|urinary_tract(2)	25						ACACAAGCAGTTGGAGAAACT	0.577													29	264					0	0	1	0	0	C	61724345	T	C	61724345	2	2	299	1	0	0	0	0	0	0	0	1	1402	1722	60	3		3	BEST1	11	61724345	Silent	SNP	T	TCGA-HT-8106-01A-11D-2395-08	56711724	61724345	73282171	30	29037											
GALNT6	11226	broad.mit.edu	37	12	51751986	51751986	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr12:51751986G>T	ENST00000543196.2	-	8	1633	c.1428C>A	c.(1426-1428)aaC>aaA	p.N476K	GALNT6_ENST00000356317.3_Missense_Mutation_p.N476K			Q8NCL4	GALT6_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 6 (GalNAc-T6)	476					protein O-linked glycosylation	Golgi membrane|integral to membrane|perinuclear region of cytoplasm	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			endometrium(2)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						ACCAGGAAAAGTTGTGACAGT	0.517													21	100					2.27731e-05	2.41964e-05	1	1	0	T	51751986	G	T	51751986	3	4	299	1	0	0	0	0	1	0	0	0	6257	1020	36	4	456	4	GALNT6	12	51751986	Missense_Mutation	SNP	G	TCGA-HT-8106-01A-11D-2395-08		51751986	82099909	31	29038											
STAB2	55576	broad.mit.edu	37	12	104099417	104099417	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr12:104099417A>G	ENST00000388887.2	+	37	4112	c.3908A>G	c.(3907-3909)gAg>gGg	p.E1303G		NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	1303					angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						CAGGGTAATGAGAAGAGGAGA	0.428													7	30					0	0	1	0	0	G	104099417	A	G	104099417	3	3	299	1	0	0	0	0	1	0	0	0	15294	304	11	3	4054	3	STAB2	12	104099417	Missense_Mutation	SNP	A	TCGA-HT-8106-01A-11D-2395-08	52347431	104099417	29752478	32	29039											
PCDH20	64881	broad.mit.edu	37	13	61987072	61987072	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr13:61987072C>T	ENST00000409186.1	-	5	3265	c.1160G>A	c.(1159-1161)gGa>gAa	p.G387E	PCDH20_ENST00000409204.4_Missense_Mutation_p.G387E			Q8N6Y1	PCD20_HUMAN	protocadherin 20	360	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		AACACTTCCTCCAATCTTACT	0.398													8	100					0	0	1	0	0	T	61987072	C	T	61987072	3	4	299	1	0	0	0	0	1	0	0	0	11562	855	30	2	1699	2	PCDH20	13	61987072	Missense_Mutation	SNP	C	TCGA-HT-8106-01A-11D-2395-08		61987072	53182806	33	29040											
MYCBP2	23077	broad.mit.edu	37	13	77862494	77862494	+	Missense_Mutation	SNP	A	A	T			TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr13:77862494A>T	ENST00000407578.2	-	3	662	c.396T>A	c.(394-396)aaT>aaA	p.N132K	MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000544440.2_Missense_Mutation_p.N94K|MYCBP2_ENST00000357337.6_Missense_Mutation_p.N94K	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	94					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		TGATTACTGTATTCTCTAAGT	0.323													6	39					0	0	1	0	0	T	77862494	A	T	77862494	3	4	299	1	0	0	0	0	1	0	0	0	10066	446	16	4	13964	4	MYCBP2	13	77862494	Missense_Mutation	SNP	A	TCGA-HT-8106-01A-11D-2395-08	15875422	77862494	37307384	34	29041											
AGBL1	123624	broad.mit.edu	37	15	86838484	86838484	+	Splice_Site	SNP	A	A	C			TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr15:86838484A>C	ENST00000441037.2	+	16	2177		c.e16-1		AGBL1_ENST00000389298.3_Splice_Site|AGBL1_ENST00000421325.2_Splice_Site	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1						C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						TTTCTGCTCCAGACTCATCTT	0.398													5	28					0	0	1	0	0	C	86838484	A	C	86838484	5	2	299	1	0	0	0	0	0	0	1	0	372	202	7	5	2139	5	AGBL1	15	86838484	Splice_Site	SNP	A	TCGA-HT-8106-01A-11D-2395-08		86838484	15692908	35	29042											
CIITA	4261	broad.mit.edu	37	16	11002910	11002910	+	Silent	SNP	G	G	A	rs148091568	byFrequency	TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr16:11002910G>A	ENST00000324288.8	+	12	2815	c.2682G>A	c.(2680-2682)gcG>gcA	p.A894A	CIITA_ENST00000537380.1_Intron|CIITA_ENST00000381835.5_Silent_p.A310A	NM_000246.3	NP_000237	P33076	C2TA_HUMAN	class II, major histocompatibility complex, transactivator	894					interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent	nucleus	activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding	p.A894A(1)		central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						ACACGGTGGCGCTGTGGGAGT	0.602			T	"FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"	"PMBL, Hodgkin Lymphona, "								7	56					0	0	1	0	0	A	11002910	G	A	11002910	2	1	299	1	0	0	0	0	0	0	0	1	3450	1074	38	1		1	CIITA	16	11002910	Silent	SNP	G	TCGA-HT-8106-01A-11D-2395-08		11002910	79351843	36	29043											
TP53	7157	broad.mit.edu	37	17	7577022	7577022	+	Nonsense_Mutation	SNP	G	G	A	rs121913344		TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr17:7577022G>A	ENST00000420246.2	-	8	1048	c.916C>T	c.(916-918)Cga>Tga	p.R306*	TP53_ENST00000269305.4_Nonsense_Mutation_p.R306*|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Nonsense_Mutation_p.R306*|TP53_ENST00000359597.4_Nonsense_Mutation_p.R306*|TP53_ENST00000455263.2_Nonsense_Mutation_p.R306*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	306	Interaction with CARM1.|Interaction with HIPK1 (By similarity).		R -> P (in LFS; germline mutation and in a sporadic cancer; somatic mutation).|R -> Q (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.R306*(133)|p.0?(8)|p.?(3)|p.R306fs*39(2)|p.K305fs*1(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)		TGCTTACCTCGCTTAGTGCTC	0.562	R306*(HCC1937_BREAST)|R306*(JURLMK1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R306*(MFE296_ENDOMETRIUM)|R306*(MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R306*(RCM1_LARGE_INTESTINE)	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)			27	64					0	0	1	0	0	A	7577022	G	A	7577022	4	1	299	1	0	0	0	0	0	1	0	0	16442	1095	38	1	370	1	TP53	17	7577022	Nonsense_Mutation	SNP	G	TCGA-HT-8106-01A-11D-2395-08		7577022	73618188	37	29044											
MYOCD	93649	broad.mit.edu	37	17	12655919	12655919	+	Silent	SNP	T	T	A			TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr17:12655919T>A	ENST00000425538.1	+	10	1514	c.1314T>A	c.(1312-1314)tcT>tcA	p.S438S	MYOCD_ENST00000343344.4_Silent_p.S438S|MYOCD_ENST00000395988.1_3'UTR|AC005358.1_ENST00000609971.1_Silent_p.S342S	NM_001146312.1|NM_153604.2	NP_001139784.1|NP_705832.1	Q8IZQ8	MYCD_HUMAN	myocardin	438	Ser-rich.				cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		CTTCCTCTTCTACCAGTGCCC	0.582													9	126					0	0	1	0	0	A	12655919	T	A	12655919	2	1	299	1	0	0	0	0	0	0	0	1	10135	1509	53	5		5	MYOCD	17	12655919	Silent	SNP	T	TCGA-HT-8106-01A-11D-2395-08	5078897	12655919	68539291	38	29045											
MAPK7	5598	broad.mit.edu	37	17	19285244	19285244	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr17:19285244delG	ENST00000308406.5	+	5	2014	c.1628delG	c.(1627-1629)cggfs	p.R543fs	MAPK7_ENST00000571657.1_Intron|MAPK7_ENST00000395604.3_Frame_Shift_Del_p.R543fs|MAPK7_ENST00000395602.4_Frame_Shift_Del_p.R543fs|MAPK7_ENST00000299612.7_Frame_Shift_Del_p.R404fs	NM_139033.2	NP_620602.2	Q13164	MK07_HUMAN	mitogen-activated protein kinase 7	543	Arg-rich.|May not be required for kinase activity; required to stimulate MEF2C activity (By similarity).|Pro-rich.				cell cycle|cell differentiation|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase activity|protein binding			autonomic_ganglia(1)|central_nervous_system(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(9)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	30	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)					cgaaaggaacggggggctggg	0.677													2	4	---	---	---	---						-	19285244	G	-	19285244	7	5	299	1	0	1	0	1	0	0	0	0	9332	1116	39	0	1642	0	MAPK7	17	19285244	Frame_Shift_Del	DEL	G	TCGA-HT-8106-01A-11D-2395-08	6629325	19285244	61909966	39	29046											
DDX52	11056	broad.mit.edu	37	17	35974371	35974371	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr17:35974371C>G	ENST00000349699.2	-	15	1813	c.1770G>C	c.(1768-1770)aaG>aaC	p.K590N	DDX52_ENST00000394367.3_Missense_Mutation_p.K482N	NM_007010.3	NP_008941.2	Q9Y2R4	DDX52_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 52	590	Lys-rich.					nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			biliary_tract(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(5)|ovary(1)|skin(3)	17		Breast(25;0.00637)|Ovarian(249;0.15)				CTACTTTCTTCTTGCTGTTCT	0.323													5	26					0	0	1	0	0	G	35974371	C	G	35974371	3	3	299	1	0	0	0	0	1	0	0	0	4393	912	32	4	33	4	DDX52	17	35974371	Missense_Mutation	SNP	C	TCGA-HT-8106-01A-11D-2395-08	16689127	35974371	45220839	40	29047											
GAST	2520	broad.mit.edu	37	17	39871798	39871798	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr17:39871798G>A	ENST00000329402.3	+	2	177	c.110G>A	c.(109-111)gGg>gAg	p.G37E	JUP_ENST00000540235.1_Intron	NM_000805.4	NP_000796.1	P01350	GAST_HUMAN	gastrin	37						extracellular region	hormone activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7		Breast(137;0.000307)	BRCA - Breast invasive adenocarcinoma(4;0.0677)			TTAGGTACAGGGGCCAACAGG	0.627													8	147					0	0	1	0	0	A	39871798	G	A	39871798	3	1	299	1	0	0	0	0	1	0	0	0	6292	1232	43	2	112	2	GAST	17	39871798	Missense_Mutation	SNP	G	TCGA-HT-8106-01A-11D-2395-08	3897427	39871798	41323412	41	29048											
GFAP	2670	broad.mit.edu	37	17	42989133	42989133	+	Missense_Mutation	SNP	G	G	C			TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr17:42989133G>C	ENST00000253408.5	-	5	878	c.813C>G	c.(811-813)aaC>aaG	p.N271K	GFAP_ENST00000588735.1_Intron|GFAP_ENST00000586793.1_Missense_Mutation_p.N271K|GFAP_ENST00000435360.2_Missense_Mutation_p.N271K	NM_002055.4	NP_002046.1	P14136	GFAP_HUMAN	glial fibrillary acidic protein	271	Coil 2B.|Rod.					cytoplasm|intermediate filament	structural constituent of cytoskeleton			endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(11)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23		Prostate(33;0.0959)				GCAGCTCCGCGTTGCGGGCAG	0.662													5	106					0	0	1	0	0	C	42989133	G	C	42989133	3	2	299	1	0	0	0	0	1	0	0	0	6379	1136	40	5	634	5	GFAP	17	42989133	Missense_Mutation	SNP	G	TCGA-HT-8106-01A-11D-2395-08	3117335	42989133	38206077	42	29049											
ASXL3	80816	broad.mit.edu	37	18	31323665	31323665	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr18:31323665A>G	ENST00000269197.5	+	12	3853	c.3853A>G	c.(3853-3855)Atc>Gtc	p.I1285V		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	1285	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						GTTAAAAACCATCCAGGGAAC	0.408													17	70					0	0	1	0	0	G	31323665	A	G	31323665	3	3	299	1	0	0	0	0	1	0	0	0	1067	217	8	3	3899	3	ASXL3	18	31323665	Missense_Mutation	SNP	A	TCGA-HT-8106-01A-11D-2395-08		31323665	46753583	43	29050											
MUC16	94025	broad.mit.edu	37	19	9069935	9069935	+	Silent	SNP	G	G	T			TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr19:9069935G>T	ENST00000397910.4	-	3	17714	c.17511C>A	c.(17509-17511)ccC>ccA	p.P5837P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5839	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGGAGATGTAGGGTGACATTT	0.473													11	119					1.58986e-06	1.71604e-06	1	1	0	T	9069935	G	T	9069935	2	4	299	1	0	0	0	0	0	0	0	1	10021	987	35	4		4	MUC16	19	9069935	Silent	SNP	G	TCGA-HT-8106-01A-11D-2395-08		9069935	50059048	44	29051											
FFAR2	2867	broad.mit.edu	37	19	35941277	35941277	+	Missense_Mutation	SNP	G	G	A	rs61746520	byFrequency	TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr19:35941277G>A	ENST00000599180.2	+	2	741	c.661G>A	c.(661-663)Gtg>Atg	p.V221M	FFAR2_ENST00000246549.2_Missense_Mutation_p.V221M|FFAR2_ENST00000601590.1_Intron			O15552	FFAR2_HUMAN	free fatty acid receptor 2							integral to plasma membrane	G-protein coupled receptor activity|lipid binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(6)|skin(1)|urinary_tract(1)	22	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			GCGCCGAGCCGTGGGGCTGGC	0.602													9	120					0	0	1	0	0	A	35941277	G	A	35941277	3	1	299	1	0	0	0	0	1	0	0	0	5861	1145	40	1	663	1	FFAR2	19	35941277	Missense_Mutation	SNP	G	TCGA-HT-8106-01A-11D-2395-08	26871342	35941277	23187706	45	29052											
BCAM	4059	broad.mit.edu	37	19	45322041	45322041	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr19:45322041C>T	ENST00000589651.1	+	10	1292	c.1238C>T	c.(1237-1239)tCt>tTt	p.S413F	BCAM_ENST00000270233.6_Missense_Mutation_p.S413F			P50895	BCAM_HUMAN	basal cell adhesion molecule (Lutheran blood group)		Ig-like C2-type 2.				cell-matrix adhesion	integral to plasma membrane	laminin binding|laminin receptor activity	p.S413F(1)		central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22	Lung NSC(12;0.000789)|all_lung(12;0.00218)	Ovarian(192;0.0728)|all_neural(266;0.112)				TCGCTCAGTTCTATCACCTTC	0.627													20	138					0	0	1	0	0	T	45322041	C	T	45322041	3	4	299	1	0	0	0	0	1	0	0	0	1342	913	32	2	1276	2	BCAM	19	45322041	Missense_Mutation	SNP	C	TCGA-HT-8106-01A-11D-2395-08	9380764	45322041	13806942	46	29053											
RBPJL	11317	broad.mit.edu	37	20	43945326	43945326	+	Splice_Site	SNP	G	G	A			TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr20:43945326G>A	ENST00000343694.3	+	12	1353	c.1281G>A	c.(1279-1281)agG>agA	p.R427R	RBPJL_ENST00000372743.1_Intron|RBPJL_ENST00000464504.1_3'UTR|RBPJL_ENST00000372741.3_Splice_Site_p.E431K	NM_001281448.1|NM_001281449.1|NM_014276.2	NP_001268377.1|NP_001268378.1|NP_055091.2	Q9UBG7	RBPJL_HUMAN	recombination signal binding protein for immunoglobulin kappa J region-like	427	IPT/TIG.				signal transduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Myeloproliferative disorder(115;0.0122)				CCACCCCCAGGAGCCCGCGGT	0.726													3	14					0	0	1	0	0	A	43945326	G	A	43945326	5	1	299	1	0	0	0	0	0	0	1	0	13214	1188	41	2	1327	2	RBPJL	20	43945326	Splice_Site	SNP	G	TCGA-HT-8106-01A-11D-2395-08		43945326	19080194	47	29054											
SMC1B	27127	broad.mit.edu	37	22	45779410	45779410	+	Silent	SNP	G	G	A			TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr22:45779410G>A	ENST00000357450.4	-	12	1994	c.1995C>T	c.(1993-1995)tgC>tgT	p.C665C	SMC1B_ENST00000404354.3_Silent_p.C665C	NM_148674.3	NP_683515.3	Q8NDV3	SMC1B_HUMAN	structural maintenance of chromosomes 1B	665	Flexible hinge.				chromosome organization|meiosis	chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus	ATP binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		TCTCATCCCAGCATCTAGCCT	0.343													8	41					0	0	1	0	0	A	45779410	G	A	45779410	2	1	299	1	0	0	0	0	0	0	0	1	14836	963	34	2		2	SMC1B	22	45779410	Silent	SNP	G	TCGA-HT-8106-01A-11D-2395-08		45779410	5525156	48	29055											
SPEG	10290	broad.mit.edu	37	2	220344809	220344809	+	Silent	SNP	T	T	C			TCGA-HT-8107-01A-13D-2395-08	TCGA-HT-8107-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e07af1d6-d90c-4b64-827a-dbeaaa3bb16a	8e649592-0ef3-47ac-8b96-f05a3785703d	g.chr2:220344809T>C	ENST00000312358.7	+	25	5421	c.5289T>C	c.(5287-5289)ttT>ttC	p.F1763F	SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	1763	Protein kinase 1.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		CACCTGAGTTTGTAGCACCCG	0.612													4	100					0	0	1	0	0	C	220344809	T	C	220344809	2	2	300	1	0	0	0	0	0	0	0	1	15092	1809	63	3		3	SPEG	2	220344809	Silent	SNP	T	TCGA-HT-8107-01A-13D-2395-08		220344809	22854564	1	29056											
GRM1	2911	broad.mit.edu	37	6	146480693	146480693	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8107-01A-13D-2395-08	TCGA-HT-8107-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e07af1d6-d90c-4b64-827a-dbeaaa3bb16a	8e649592-0ef3-47ac-8b96-f05a3785703d	g.chr6:146480693C>T	ENST00000392299.2	+	3	1380	c.910C>T	c.(910-912)Cgg>Tgg	p.R304W	GRM1_ENST00000355289.4_Missense_Mutation_p.R304W|GRM1_ENST00000282753.1_Missense_Mutation_p.R304W|GRM1_ENST00000507907.1_Missense_Mutation_p.R304W|GRM1_ENST00000492807.2_Missense_Mutation_p.R304W|GRM1_ENST00000361719.2_Missense_Mutation_p.R304W			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	304					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	GAGCGCCATGCGGCGCCTTGG	0.557													4	82					0	0	1	0	0	T	146480693	C	T	146480693	3	4	300	1	0	0	0	0	1	0	0	0	6837	759	27	1	916	1	GRM1	6	146480693	Missense_Mutation	SNP	C	TCGA-HT-8107-01A-13D-2395-08		146480693	24634374	2	29057											
AEBP1	165	broad.mit.edu	37	7	44153474	44153474	+	Missense_Mutation	SNP	G	G	A	rs146344486	byFrequency	TCGA-HT-8107-01A-13D-2395-08	TCGA-HT-8107-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e07af1d6-d90c-4b64-827a-dbeaaa3bb16a	8e649592-0ef3-47ac-8b96-f05a3785703d	g.chr7:44153474G>A	ENST00000223357.3	+	21	3396	c.3091G>A	c.(3091-3093)Gca>Aca	p.A1031T	AEBP1_ENST00000450684.2_Missense_Mutation_p.A606T	NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN	AE binding protein 1	1031	Interaction with MAPK1 and MAPK3 (By similarity).|Required for transcriptional repression (By similarity).				cell adhesion|muscle organ development|proteolysis|skeletal system development	cytoplasm|extracellular space|nucleus	DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						GCGGCTTCGGGCACAGATGCG	0.692													4	90					0	0	1	0	0	A	44153474	G	A	44153474	3	1	300	1	0	0	0	0	1	0	0	0	348	1203	42	2	3173	2	AEBP1	7	44153474	Missense_Mutation	SNP	G	TCGA-HT-8107-01A-13D-2395-08		44153474	114985189	3	29058											
EGFR	1956	broad.mit.edu	37	7	55211080	55211080	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8107-01A-13D-2395-08	TCGA-HT-8107-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e07af1d6-d90c-4b64-827a-dbeaaa3bb16a	8e649592-0ef3-47ac-8b96-f05a3785703d	g.chr7:55211080G>A	ENST00000275493.2	+	3	500	c.323G>A	c.(322-324)aGa>aAa	p.R108K	EGFR_ENST00000420316.2_Missense_Mutation_p.R108K|EGFR_ENST00000344576.2_Missense_Mutation_p.R108K|EGFR_ENST00000454757.2_Missense_Mutation_p.R55K|EGFR_ENST00000342916.3_Missense_Mutation_p.R108K|EGFR_ENST00000442591.1_Missense_Mutation_p.R108K|EGFR_ENST00000455089.1_Missense_Mutation_p.R108K	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	108					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.R108K(6)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	CAGATCATCAGAGGAAATATG	0.423		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			23	127					0	0	1	0	0	A	55211080	G	A	55211080	3	1	300	1	0	0	0	0	1	0	0	0	4993	942	33	2	333	2	EGFR	7	55211080	Missense_Mutation	SNP	G	TCGA-HT-8107-01A-13D-2395-08	11057606	55211080	103927583	4	29059											
AHNAK2	113146	broad.mit.edu	37	14	105420269	105420269	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8107-01A-13D-2395-08	TCGA-HT-8107-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e07af1d6-d90c-4b64-827a-dbeaaa3bb16a	8e649592-0ef3-47ac-8b96-f05a3785703d	g.chr14:105420269G>A	ENST00000333244.5	-	7	1638	c.1519C>T	c.(1519-1521)Cgc>Tgc	p.R507C		NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	507						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GTACTAAGGCGCCTTTCTCTT	0.532													5	117					0	0	1	0	0	A	105420269	G	A	105420269	3	1	300	1	0	0	0	0	1	0	0	0	412	1087	38	1	15872	1	AHNAK2	14	105420269	Missense_Mutation	SNP	G	TCGA-HT-8107-01A-13D-2395-08		105420269	1929271	5	29060											
TBXA2R	6915	broad.mit.edu	37	19	3600465	3600465	+	Silent	SNP	A	A	C			TCGA-HT-8107-01A-13D-2395-08	TCGA-HT-8107-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e07af1d6-d90c-4b64-827a-dbeaaa3bb16a	8e649592-0ef3-47ac-8b96-f05a3785703d	g.chr19:3600465A>C	ENST00000375190.4	-	2	561	c.168T>G	c.(166-168)ggT>ggG	p.G56G	TBXA2R_ENST00000411851.3_Silent_p.G56G|TBXA2R_ENST00000589966.1_Silent_p.G56G	NM_001060.5|NM_201636.2	NP_001051.1|NP_963998.2	P21731	TA2R_HUMAN	thromboxane A2 receptor	56					platelet activation	integral to plasma membrane	guanyl-nucleotide exchange factor activity|protein binding|thromboxane A2 receptor activity			kidney(1)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	8		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)	Ridogrel(DB01207)	GCGTGTGCGAACCCCCCTGCC	0.706													5	26					0	0	1	0	0	C	3600465	A	C	3600465	2	2	300	1	0	0	0	0	0	0	0	1	15723	30	2	5		5	TBXA2R	19	3600465	Silent	SNP	A	TCGA-HT-8107-01A-13D-2395-08		3600465	55528518	6	29061											
IL1R2	7850	broad.mit.edu	37	2	102641101	102641101	+	Silent	SNP	G	G	A			TCGA-HT-8108-01A-11D-2395-08	TCGA-HT-8108-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83398327-b05a-4e54-ae4b-1cffc6bde4da	657f8664-082c-411b-92f1-2e5e82ad5bd5	g.chr2:102641101G>A	ENST00000332549.3	+	7	1087	c.858G>A	c.(856-858)ccG>ccA	p.P286P	IL1R2_ENST00000485335.1_3'UTR|IL1R2_ENST00000393414.2_Silent_p.P286P|IL1R2_ENST00000441002.1_Silent_p.P286P	NM_004633.3	NP_004624.1	P27930	IL1R2_HUMAN	interleukin 1 receptor, type II	286	Ig-like C2-type 3.				immune response	integral to membrane|plasma membrane	interleukin-1, Type II, blocking receptor activity			breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)	28					Anakinra(DB00026)	GCGCCTACCCGGGAGGCCGCG	0.572													4	75					0	0	1	0	0	A	102641101	G	A	102641101	2	1	301	1	0	0	0	0	0	0	0	1	7703	1103	39	1		1	IL1R2	2	102641101	Silent	SNP	G	TCGA-HT-8108-01A-11D-2395-08		102641101	140558272	1	29062											
TTN	7273	broad.mit.edu	37	2	179593263	179593263	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8108-01A-11D-2395-08	TCGA-HT-8108-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83398327-b05a-4e54-ae4b-1cffc6bde4da	657f8664-082c-411b-92f1-2e5e82ad5bd5	g.chr2:179593263C>T	ENST00000589042.1	-	66	19614	c.19390G>A	c.(19390-19392)Gga>Aga	p.G6464R	TTN_ENST00000591111.1_Missense_Mutation_p.G6147R|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.G5220R|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	6147	Ig-like 46.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTACTGCTTCCGAAGTCATTT	0.398													5	14					0	0	1	0	0	T	179593263	C	T	179593263	3	4	301	1	0	0	0	0	1	0	0	0	16797	661	23	1	85327	1	TTN	2	179593263	Missense_Mutation	SNP	C	TCGA-HT-8108-01A-11D-2395-08	76952162	179593263	63606110	2	29063											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-HT-8108-01A-11D-2395-08	TCGA-HT-8108-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83398327-b05a-4e54-ae4b-1cffc6bde4da	657f8664-082c-411b-92f1-2e5e82ad5bd5	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	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								29	44					0	0	1	0	0	T	209113112	C	T	209113112	3	4	301	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HT-8108-01A-11D-2395-08	29519849	209113112	34086261	3	29064											
EIF4A2	1974	broad.mit.edu	37	3	186501406	186501406	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-8108-01A-11D-2395-08	TCGA-HT-8108-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83398327-b05a-4e54-ae4b-1cffc6bde4da	657f8664-082c-411b-92f1-2e5e82ad5bd5	g.chr3:186501406G>T	ENST00000323963.5	+	1	71	c.7G>T	c.(7-9)Ggt>Tgt	p.G3C	EIF4A2_ENST00000356531.5_5'UTR|EIF4A2_ENST00000440191.2_Missense_Mutation_p.G3C|RP11-573D15.9_ENST00000577781.1_RNA			Q14240	IF4A2_HUMAN	eukaryotic translation initiation factor 4A2	3					interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	ATP binding|ATP-dependent helicase activity|protein binding|translation initiation factor activity			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|urinary_tract(1)	28	all_cancers(143;2.68e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.07e-20)	GBM - Glioblastoma multiforme(93;0.0704)		GATCATGTCTGGTGGCTCCGC	0.572			T	BCL6	NHL								53	86					7.89702e-26	8.75075e-26	1	1	0	T	186501406	G	T	186501406	3	4	301	1	0	0	0	0	1	0	0	0	5053	1348	47	5	9	5	EIF4A2	3	186501406	Missense_Mutation	SNP	G	TCGA-HT-8108-01A-11D-2395-08		186501406	11521024	4	29065											
BBS7	55212	broad.mit.edu	37	4	122756377	122756377	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-8108-01A-11D-2395-08	TCGA-HT-8108-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83398327-b05a-4e54-ae4b-1cffc6bde4da	657f8664-082c-411b-92f1-2e5e82ad5bd5	g.chr4:122756377G>T	ENST00000264499.4	-	14	1616	c.1433C>A	c.(1432-1434)cCc>cAc	p.P478H	BBS7_ENST00000506636.1_Missense_Mutation_p.P478H	NM_176824.2	NP_789794.1	Q8IWZ6	BBS7_HUMAN	Bardet-Biedl syndrome 7	478					cilium morphogenesis|digestive tract morphogenesis|fat cell differentiation|heart looping|melanosome transport|pigment granule aggregation in cell center|response to stimulus|visual perception	BBSome|centrosome|cilium membrane	protein binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						ACAGGTTTTGGGTTGAATTCT	0.393									Bardet-Biedl syndrome				18	44					5.3912e-06	5.81683e-06	1	1	0	T	122756377	G	T	122756377	3	4	301	1	0	0	0	0	1	0	0	0	1339	1232	43	5	743	5	BBS7	4	122756377	Missense_Mutation	SNP	G	TCGA-HT-8108-01A-11D-2395-08		122756377	68397899	5	29066											
ROPN1L	83853	broad.mit.edu	37	5	10461352	10461352	+	Silent	SNP	C	C	T			TCGA-HT-8108-01A-11D-2395-08	TCGA-HT-8108-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83398327-b05a-4e54-ae4b-1cffc6bde4da	657f8664-082c-411b-92f1-2e5e82ad5bd5	g.chr5:10461352C>T	ENST00000503804.1	+	5	995	c.474C>T	c.(472-474)ggC>ggT	p.G158G	ROPN1L_ENST00000510520.1_3'UTR|ROPN1L_ENST00000274134.4_Silent_p.G158G			Q96C74	ROP1L_HUMAN	rhophilin associated tail protein 1-like	158					ciliary or flagellar motility|signal transduction	cytoplasm|motile cilium	cAMP-dependent protein kinase regulator activity|protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)	14						ATCCGGAGGGCGGGCCCGCTC	0.567													53	87					0	0	1	0	0	T	10461352	C	T	10461352	2	4	301	1	0	0	0	0	0	0	0	1	13577	755	27	1		1	ROPN1L	5	10461352	Silent	SNP	C	TCGA-HT-8108-01A-11D-2395-08		10461352	170453908	6	29067											
SIM1	6492	broad.mit.edu	37	6	100911318	100911318	+	Silent	SNP	C	C	T			TCGA-HT-8108-01A-11D-2395-08	TCGA-HT-8108-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83398327-b05a-4e54-ae4b-1cffc6bde4da	657f8664-082c-411b-92f1-2e5e82ad5bd5	g.chr6:100911318C>T	ENST00000369208.3	-	2	809	c.27G>A	c.(25-27)gcG>gcA	p.A9A	SIM1_ENST00000262901.4_Silent_p.A9A			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	9					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		TCCTAGTCCGCGCAGCATTTT	0.423													24	148					0	0	1	0	0	T	100911318	C	T	100911318	2	4	301	1	0	0	0	0	0	0	0	1	14378	755	27	1		1	SIM1	6	100911318	Silent	SNP	C	TCGA-HT-8108-01A-11D-2395-08		100911318	70203749	7	29068											
SYNE1	23345	broad.mit.edu	37	6	152485384	152485384	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8108-01A-11D-2395-08	TCGA-HT-8108-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83398327-b05a-4e54-ae4b-1cffc6bde4da	657f8664-082c-411b-92f1-2e5e82ad5bd5	g.chr6:152485384C>T	ENST00000367255.5	-	131	24305	c.23704G>A	c.(23704-23706)Gct>Act	p.A7902T	SYNE1_ENST00000356820.4_Missense_Mutation_p.A2426T|SYNE1_ENST00000423061.1_Missense_Mutation_p.A7831T|SYNE1_ENST00000265368.4_Missense_Mutation_p.A7902T|SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000448038.1_Missense_Mutation_p.A7831T|SYNE1_ENST00000354674.4_Missense_Mutation_p.A57T|SYNE1_ENST00000539504.1_Missense_Mutation_p.A57T|SYNE1_ENST00000341594.5_Missense_Mutation_p.A7514T	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	7902					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TCGATGTGAGCGAGCCAGGTC	0.502										HNSCC(10;0.0054)			58	25					0	0	1	0	0	T	152485384	C	T	152485384	3	4	301	1	0	0	0	0	1	0	0	0	15502	768	27	1	2826	1	SYNE1	6	152485384	Missense_Mutation	SNP	C	TCGA-HT-8108-01A-11D-2395-08	51574066	152485384	18629683	8	29069											
CYP2C9	1559	broad.mit.edu	37	10	96698494	96698494	+	Missense_Mutation	SNP	C	C	A	rs67807361		TCGA-HT-8108-01A-11D-2395-08	TCGA-HT-8108-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83398327-b05a-4e54-ae4b-1cffc6bde4da	657f8664-082c-411b-92f1-2e5e82ad5bd5	g.chr10:96698494C>A	ENST00000260682.6	+	1	67	c.55C>A	c.(55-57)Ctc>Atc	p.L19I	CYP2C9_ENST00000461906.1_3'UTR	NM_000771.3	NP_000762.2	P11712	CP2C9_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 9	19			L -> I (in allele CYP2C9*7).		exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		Colorectal(252;0.0902)		all cancers(201;6.93e-05)	Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)	TCTCCTTTCACTCTGGAGACA	0.473													5	119					3.59834e-05	3.78287e-05	1	1	0	A	96698494	C	A	96698494	3	1	301	1	0	0	0	0	1	0	0	0	4191	565	20	4	57	4	CYP2C9	10	96698494	Missense_Mutation	SNP	C	TCGA-HT-8108-01A-11D-2395-08		96698494	38836253	9	29070											
MS4A3	932	broad.mit.edu	37	11	59830060	59830060	+	Silent	SNP	G	G	A			TCGA-HT-8108-01A-11D-2395-08	TCGA-HT-8108-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83398327-b05a-4e54-ae4b-1cffc6bde4da	657f8664-082c-411b-92f1-2e5e82ad5bd5	g.chr11:59830060G>A	ENST00000278865.3	+	3	349	c.276G>A	c.(274-276)ccG>ccA	p.P92P	MS4A3_ENST00000395032.2_Intron|MS4A3_ENST00000358152.2_Intron|MS4A3_ENST00000534744.1_Intron	NM_006138.4	NP_006129.4	Q96HJ5	MS4A3_HUMAN	membrane-spanning 4-domains, subfamily A, member 3 (hematopoietic cell-specific)	92						endomembrane system|integral to membrane|perinuclear region of cytoplasm	protein binding|receptor activity			endometrium(4)|kidney(2)|lung(9)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21		all_epithelial(135;0.245)				CAGGCTACCCGATTTGGGGTG	0.423													47	57					0	0	1	0	0	A	59830060	G	A	59830060	2	1	301	1	0	0	0	0	0	0	0	1	9910	1045	37	1		1	MS4A3	11	59830060	Silent	SNP	G	TCGA-HT-8108-01A-11D-2395-08		59830060	75176456	10	29071											
IL18	3606	broad.mit.edu	37	11	112014361	112014361	+	Missense_Mutation	SNP	C	C	A			TCGA-HT-8108-01A-11D-2395-08	TCGA-HT-8108-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83398327-b05a-4e54-ae4b-1cffc6bde4da	657f8664-082c-411b-92f1-2e5e82ad5bd5	g.chr11:112014361C>A	ENST00000280357.7	-	6	759	c.540G>T	c.(538-540)ttG>ttT	p.L180F	IL18_ENST00000524595.1_Missense_Mutation_p.L176F|SDHD_ENST00000532699.1_Intron|IL18_ENST00000528832.1_Missense_Mutation_p.L180F	NM_001562.3	NP_001553.1	Q14116	IL18_HUMAN	interleukin 18 (interferon-gamma-inducing factor)	180					angiogenesis|cell-cell signaling|chemokine biosynthetic process|granulocyte macrophage colony-stimulating factor biosynthetic process|interferon-gamma biosynthetic process|interleukin-13 biosynthetic process|interleukin-2 biosynthetic process|positive regulation of activated T cell proliferation|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of interferon-gamma production|positive regulation of interleukin-17 production|positive regulation of natural killer cell proliferation|positive regulation of NK T cell proliferation|regulation of cell adhesion|sleep|T-helper 1 type immune response|type 2 immune response	cytosol|extracellular space	cytokine activity|signal transducer activity						all_cancers(61;5.7e-14)|all_epithelial(67;3.4e-08)|Melanoma(852;8.81e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;6.72e-07)|Epithelial(105;8.15e-07)|all cancers(92;1.43e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.055)		ATCTATCCCCCAATTCATCCT	0.388													6	10					0.0215528	0.0220916	1	1	0	A	112014361	C	A	112014361	3	1	301	1	0	0	0	0	1	0	0	0	7689	593	21	5	45	5	IL18	11	112014361	Missense_Mutation	SNP	C	TCGA-HT-8108-01A-11D-2395-08	52184301	112014361	22992155	11	29072											
CADM1	23705	broad.mit.edu	37	11	115109342	115109342	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-8108-01A-11D-2395-08	TCGA-HT-8108-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83398327-b05a-4e54-ae4b-1cffc6bde4da	657f8664-082c-411b-92f1-2e5e82ad5bd5	g.chr11:115109342T>C	ENST00000452722.3	-	3	322	c.302A>G	c.(301-303)aAt>aGt	p.N101S	CADM1_ENST00000536727.1_Missense_Mutation_p.N101S|CADM1_ENST00000542447.2_Missense_Mutation_p.N101S|CADM1_ENST00000537058.1_Missense_Mutation_p.N101S|CADM1_ENST00000331581.6_Missense_Mutation_p.N101S|CADM1_ENST00000537140.1_5'UTR	NM_014333.3	NP_055148.3	Q9BY67	CADM1_HUMAN	cell adhesion molecule 1		Ig-like V-type.				adherens junction organization|apoptosis|cell differentiation|cell junction assembly|cell recognition|detection of stimulus|heterophilic cell-cell adhesion|homophilic cell adhesion|multicellular organismal development|positive regulation of cytokine secretion|spermatogenesis|susceptibility to natural killer cell mediated cytotoxicity	basolateral plasma membrane|cell-cell junction|integral to membrane	PDZ domain binding|protein C-terminus binding|protein homodimerization activity|receptor binding			cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1)	32	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)		GCTAGAAAAATTCAGCAACTG	0.393													27	27					0	0	1	0	0	C	115109342	T	C	115109342	3	2	301	1	0	0	0	0	1	0	0	0	2584	1493	52	3	1058	3	CADM1	11	115109342	Missense_Mutation	SNP	T	TCGA-HT-8108-01A-11D-2395-08	3094981	115109342	19897174	12	29073											
KERA	11081	broad.mit.edu	37	12	91445220	91445220	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-8108-01A-11D-2395-08	TCGA-HT-8108-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83398327-b05a-4e54-ae4b-1cffc6bde4da	657f8664-082c-411b-92f1-2e5e82ad5bd5	g.chr12:91445220T>C	ENST00000266719.3	-	3	1209	c.962A>G	c.(961-963)cAt>cGt	p.H321R		NM_007035.3	NP_008966.1	O60938	KERA_HUMAN	keratocan	321					response to stimulus|visual perception	proteinaceous extracellular matrix				breast(2)|large_intestine(8)|lung(5)|prostate(2)|skin(2)	19						GTAGCGAAGATGAGGTCCATA	0.438													12	28					0	0	1	0	0	C	91445220	T	C	91445220	3	2	301	1	0	0	0	0	1	0	0	0	8186	1464	51	3	100	3	KERA	12	91445220	Missense_Mutation	SNP	T	TCGA-HT-8108-01A-11D-2395-08		91445220	42406675	13	29074											
LRRC43	254050	broad.mit.edu	37	12	122684844	122684844	+	Silent	SNP	G	G	A			TCGA-HT-8108-01A-11D-2395-08	TCGA-HT-8108-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83398327-b05a-4e54-ae4b-1cffc6bde4da	657f8664-082c-411b-92f1-2e5e82ad5bd5	g.chr12:122684844G>A	ENST00000339777.4	+	8	1486	c.1458G>A	c.(1456-1458)ctG>ctA	p.L486L	LRRC43_ENST00000425921.1_Silent_p.L301L	NM_152759.4	NP_689972.3	Q8N309	LRC43_HUMAN	leucine rich repeat containing 43	486										NS(1)|endometrium(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(2)	19	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225)		CCTTCCTGCTGGCGGGGACCA	0.627													6	108					0	0	1	0	0	A	122684844	G	A	122684844	2	1	301	1	0	0	0	0	0	0	0	1	9046	1335	47	2		2	LRRC43	12	122684844	Silent	SNP	G	TCGA-HT-8108-01A-11D-2395-08	31239624	122684844	11167051	14	29075											
CDK10	8558	broad.mit.edu	37	16	89755723	89755723	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8108-01A-11D-2395-08	TCGA-HT-8108-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83398327-b05a-4e54-ae4b-1cffc6bde4da	657f8664-082c-411b-92f1-2e5e82ad5bd5	g.chr16:89755723G>A	ENST00000353379.7	+	2	194	c.151G>A	c.(151-153)Ggc>Agc	p.G51S	CDK10_ENST00000505473.1_5'UTR|CDK10_ENST00000331006.8_Intron|CDK10_ENST00000514965.1_3'UTR	NM_001098533.2|NM_001160367.1|NM_052988.4	NP_001092003.2|NP_001153839.1|NP_443714.3	Q15131	CDK10_HUMAN	cyclin-dependent kinase 10	51	Protein kinase.				negative regulation of cell proliferation|traversing start control point of mitotic cell cycle		ATP binding|cyclin-dependent protein kinase activity|protein binding			ovary(1)	1		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0276)		GGGTACCTACGGCATTGTGTG	0.582													28	41					0	0	1	0	0	A	89755723	G	A	89755723	3	1	301	1	0	0	0	0	1	0	0	0	3147	1116	39	1	157	1	CDK10	16	89755723	Missense_Mutation	SNP	G	TCGA-HT-8108-01A-11D-2395-08		89755723	599030	15	29076											
TP53	7157	broad.mit.edu	37	17	7578471	7578471	+	Frame_Shift_Del	DEL	G	G	-	rs137852790		TCGA-HT-8108-01A-11D-2395-08	TCGA-HT-8108-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83398327-b05a-4e54-ae4b-1cffc6bde4da	657f8664-082c-411b-92f1-2e5e82ad5bd5	g.chr17:7578471delG	ENST00000420246.2	-	5	591	c.459delC	c.(457-459)cccfs	p.P153fs	TP53_ENST00000413465.2_Frame_Shift_Del_p.P153fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.P153fs|TP53_ENST00000269305.4_Frame_Shift_Del_p.P153fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.P153fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.P153fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	153	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		P -> A (in sporadic cancers; somatic mutation).|P -> F (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|P -> H (in a sporadic cancer; somatic mutation).|P -> L (in sporadic cancers; somatic mutation).|P -> R (in a sporadic cancer; somatic mutation).|P -> S (in sporadic cancers; somatic mutation).|P -> T (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.0?(8)|p.P153P(7)|p.T150fs*16(6)|p.?(5)|p.P152fs*14(5)|p.P153fs*26(2)|p.G154fs*27(2)|p.P153fs*22(2)|p.D148_T155delDSTPPPGT(1)|p.Q144_G154del11(1)|p.P151_V173del23(1)|p.P153_G154insX(1)|p.D148fs*23(1)|p.T150_P153delTPPP(1)|p.T18fs*16(1)|p.Q144fs*16(1)|p.S149fs*72(1)|p.T57fs*16(1)|p.P152fs*27(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)		CGCGGGTGCCGGGCGGGGGTG	0.612		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)			70	28	---	---	---	---						-	7578471	G	-	7578471	7	5	301	1	0	1	0	1	0	0	0	0	16442	1103	39	0	839	0	TP53	17	7578471	Frame_Shift_Del	DEL	G	TCGA-HT-8108-01A-11D-2395-08		7578471	73616739	16	29077											
GNAL	2774	broad.mit.edu	37	18	11880999	11880999	+	Silent	SNP	G	G	A			TCGA-HT-8108-01A-11D-2395-08	TCGA-HT-8108-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83398327-b05a-4e54-ae4b-1cffc6bde4da	657f8664-082c-411b-92f1-2e5e82ad5bd5	g.chr18:11880999G>A	ENST00000334049.6	+	12	1850	c.1242G>A	c.(1240-1242)acG>acA	p.T414T	GNAL_ENST00000269162.5_Silent_p.T337T|GNAL_ENST00000423027.3_Silent_p.T337T|GNAL_ENST00000602628.1_Silent_p.T130T|GNAL_ENST00000535121.1_Silent_p.T337T	NM_182978.3	NP_892023.1	P38405	GNAL_HUMAN	guanine nucleotide binding protein (G protein), alpha activating activity polypeptide, olfactory type	337					activation of adenylate cyclase activity by dopamine receptor signaling pathway|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception of smell|synaptic transmission	heterotrimeric G-protein complex	adenylate cyclase activity|G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(4)|ovary(1)	12						GGATCAGCACGGCCACCGGTG	0.622													26	47					0	0	1	0	0	A	11880999	G	A	11880999	2	1	301	1	0	0	0	0	0	0	0	1	6549	1103	39	1		1	GNAL	18	11880999	Silent	SNP	G	TCGA-HT-8108-01A-11D-2395-08		11880999	66196249	17	29078											
OPHN1	4983	broad.mit.edu	37	X	67414334	67414334	+	Missense_Mutation	SNP	G	G	C			TCGA-HT-8108-01A-11D-2395-08	TCGA-HT-8108-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83398327-b05a-4e54-ae4b-1cffc6bde4da	657f8664-082c-411b-92f1-2e5e82ad5bd5	g.chrX:67414334G>C	ENST00000355520.5	-	13	1752	c.1111C>G	c.(1111-1113)Cac>Gac	p.H371D	OPHN1_ENST00000540071.1_Missense_Mutation_p.H371D	NM_002547.2	NP_002538.1	O60890	OPHN1_HUMAN	oligophrenin 1	371					axon guidance|endocytosis|filopodium assembly|small GTPase mediated signal transduction|substrate-dependent cell migration, cell extension	axon|cell junction|cytosol|dendritic spine|synapse	cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|skin(2)	31						ATAGGGCTGTGGTAGATCTAC	0.348													19	25					0	0	1	0	0	C	67414334	G	C	67414334	3	2	301	1	0	0	0	0	1	0	0	0	10923	1348	47	5	1345	5	OPHN1	23	67414334	Missense_Mutation	SNP	G	TCGA-HT-8108-01A-11D-2395-08		67414334	87856226	18	29079											
RGAG4	340526	broad.mit.edu	37	X	71350844	71350844	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8108-01A-11D-2395-08	TCGA-HT-8108-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83398327-b05a-4e54-ae4b-1cffc6bde4da	657f8664-082c-411b-92f1-2e5e82ad5bd5	g.chrX:71350844C>T	ENST00000545866.1	-	1	914	c.547G>A	c.(547-549)Ggg>Agg	p.G183R	RGAG4_ENST00000609883.1_Missense_Mutation_p.G183R|NHSL2_ENST00000540800.1_Intron	NM_001024455.3	NP_001019626.1	Q5HYW3	RGAG4_HUMAN	retrotransposon gag domain containing 4	183										cervix(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|skin(1)	24	Renal(35;0.156)					TCGGCGCCCCCGGGGAAATGA	0.582													4	69					0	0	1	0	0	T	71350844	C	T	71350844	3	4	301	1	0	0	0	0	1	0	0	0	13327	652	23	1	1166	1	RGAG4	23	71350844	Missense_Mutation	SNP	C	TCGA-HT-8108-01A-11D-2395-08	3936510	71350844	83919716	19	29080											
ATRX	546	broad.mit.edu	37	X	76813062	76813063	+	Frame_Shift_Ins	INS	-	-	AG			TCGA-HT-8108-01A-11D-2395-08	TCGA-HT-8108-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83398327-b05a-4e54-ae4b-1cffc6bde4da	657f8664-082c-411b-92f1-2e5e82ad5bd5	g.chrX:76813062_76813063insAG	ENST00000373344.5	-	30	6772_6773	c.6558_6559insCT	c.(6556-6561)tcttttfs	p.F2187fs	ATRX_ENST00000395603.3_Frame_Shift_Ins_p.F2149fs|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	2187	Helicase C-terminal.				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)	ACAACTCGAAAAGACAGTGACT	0.347			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						65	100	---	---	---	---						AG	76813063	-	AG	76813062	7	5	301	1	0	1	1	0	0	0	0	0	1206	14	1	0	943	0	ATRX	23	76813062	Frame_Shift_Ins	INS	-	TCGA-HT-8108-01A-11D-2395-08	5462218	76813062	78457498	20	29081											
IRS4	8471	broad.mit.edu	37	X	107979043	107979043	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-8108-01A-11D-2395-08	TCGA-HT-8108-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83398327-b05a-4e54-ae4b-1cffc6bde4da	657f8664-082c-411b-92f1-2e5e82ad5bd5	g.chrX:107979043C>G	ENST00000372129.2	-	1	608	c.532G>C	c.(532-534)Gcg>Ccg	p.A178P		NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	178	PH.					plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						GCCACCATCGCGAAGTATTCG	0.612													27	68					0	0	1	0	0	G	107979043	C	G	107979043	3	3	301	1	0	0	0	0	1	0	0	0	7886	768	27	5	3245	5	IRS4	23	107979043	Missense_Mutation	SNP	C	TCGA-HT-8108-01A-11D-2395-08	31165981	107979043	47291517	21	29082											
RENBP	5973	broad.mit.edu	37	X	153208518	153208518	+	Missense_Mutation	SNP	T	T	G			TCGA-HT-8108-01A-11D-2395-08	TCGA-HT-8108-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83398327-b05a-4e54-ae4b-1cffc6bde4da	657f8664-082c-411b-92f1-2e5e82ad5bd5	g.chrX:153208518T>G	ENST00000393700.3	-	6	556	c.476A>C	c.(475-477)gAg>gCg	p.E159A	RENBP_ENST00000462086.1_5'UTR|RENBP_ENST00000412763.1_Missense_Mutation_p.E159A|RENBP_ENST00000369997.3_Missense_Mutation_p.E145A	NM_002910.5	NP_002901.2	P51606	RENBP_HUMAN	renin binding protein	159					mannose metabolic process|regulation of blood pressure		endopeptidase inhibitor activity|mannose-6-phosphate isomerase activity|N-acylglucosamine 2-epimerase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				N-Acetyl-D-glucosamine(DB00141)	ATCCATCATCTCCACCGCTTC	0.711													21	20					0	0	1	0	0	G	153208518	T	G	153208518	3	3	301	1	0	0	0	0	1	0	0	0	13277	1551	54	5	831	5	RENBP	23	153208518	Missense_Mutation	SNP	T	TCGA-HT-8108-01A-11D-2395-08	45229475	153208518	2062042	22	29083											
KTI12	112970	broad.mit.edu	37	1	52498859	52498865	+	Frame_Shift_Del	DEL	GAATCCG	GAATCCG	-	rs2783175	byFrequency	TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	g.chr1:52498859_52498865delGAATCCG	ENST00000371614.1	-	1	623_629	c.569_575delCGGATTC	c.(568-576)ccggattcafs	p.PDS190fs	TXNDC12_ENST00000371626.4_Intron	NM_138417.2	NP_612426.1	Q96EK9	KTI12_HUMAN	KTI12 homolog, chromatin associated (S. cerevisiae)	190							ATP binding	p.D191E(1)		central_nervous_system(2)|endometrium(1)|kidney(1)|lung(4)|ovary(1)|stomach(2)|urinary_tract(1)	12						AGATTTCTCTGAATCCGGAGTCACAAG	0.575													11	97	---	---	---	---						-	52498865	GAATCCG	-	52498859	7	5	302	1	0	1	0	1	0	0	0	0	8623	1294	45	0	493	0	KTI12	1	52498859	Frame_Shift_Del	DEL	GAATCCG	TCGA-HT-8109-01A-11D-2395-08		52498859	196751762	1	29084											
KCNA10	3744	broad.mit.edu	37	1	111060317	111060317	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	g.chr1:111060317C>T	ENST00000369771.2	-	1	1480	c.1093G>A	c.(1093-1095)Ggg>Agg	p.G365R		NM_005549.2	NP_005540.1	Q16322	KCA10_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 10	365						voltage-gated potassium channel complex	intracellular cyclic nucleotide activated cation channel activity|voltage-gated potassium channel activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(3)|skin(1)|urinary_tract(1)	35		all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134)		AGTGTTTGCCCGAGGATCTGC	0.557													73	59					0	0	1	0	0	T	111060317	C	T	111060317	3	4	302	1	0	0	0	0	1	0	0	0	8046	652	23	1	446	1	KCNA10	1	111060317	Missense_Mutation	SNP	C	TCGA-HT-8109-01A-11D-2395-08	58561458	111060317	138190304	2	29085											
DUSP27	92235	broad.mit.edu	37	1	167096396	167096396	+	Silent	SNP	G	G	A			TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	g.chr1:167096396G>A	ENST00000361200.2	+	6	2194	c.2028G>A	c.(2026-2028)acG>acA	p.T676T	DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000271385.5_Silent_p.T676T|DUSP27_ENST00000443333.1_Silent_p.T676T			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	676					protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						GGGACACGACGTCAGTACTGA	0.637													5	45					0	0	1	0	0	A	167096396	G	A	167096396	2	1	302	1	0	0	0	0	0	0	0	1	4850	1132	40	1		1	DUSP27	1	167096396	Silent	SNP	G	TCGA-HT-8109-01A-11D-2395-08	56036079	167096396	82154225	3	29086											
PRG4	10216	broad.mit.edu	37	1	186276487	186276487	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	g.chr1:186276487C>T	ENST00000445192.2	+	7	1681	c.1636C>T	c.(1636-1638)Ccc>Tcc	p.P546S	PRG4_ENST00000367486.3_Missense_Mutation_p.P503S|PRG4_ENST00000367483.4_Missense_Mutation_p.P505S|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367485.4_Missense_Mutation_p.P453S	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	546	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CAAGTCTGCACCCACCACTCC	0.642													42	81					0	0	1	0	0	T	186276487	C	T	186276487	3	4	302	1	0	0	0	0	1	0	0	0	12533	507	18	2	1658	2	PRG4	1	186276487	Missense_Mutation	SNP	C	TCGA-HT-8109-01A-11D-2395-08	19180091	186276487	62974134	4	29087											
ARID4B	51742	broad.mit.edu	37	1	235345238	235345244	+	Frame_Shift_Del	DEL	TCTTCAA	TCTTCAA	-			TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	g.chr1:235345238_235345244delTCTTCAA	ENST00000264183.3	-	20	3487_3493	c.2990_2996delTTGAAGA	c.(2989-2997)attgaagaafs	p.IEE997fs	ARID4B_ENST00000349213.3_Frame_Shift_Del_p.IEE911fs|ARID4B_ENST00000366603.2_Frame_Shift_Del_p.IEE997fs	NM_016374.5	NP_057458.4	Q4LE39	ARI4B_HUMAN	AT rich interactive domain 4B (RBP1-like)	997					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding			NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)			TACTGTTTTTTCTTCAATGGGTTTACT	0.444													53	84	---	---	---	---						-	235345244	TCTTCAA	-	235345238	7	5	302	1	0	1	0	1	0	0	0	0	917	1783	62	0	962	0	ARID4B	1	235345238	Frame_Shift_Del	DEL	TCTTCAA	TCGA-HT-8109-01A-11D-2395-08	49068751	235345238	13905383	5	29088											
OR13G1	441933	broad.mit.edu	37	1	247835570	247835570	+	Silent	SNP	G	G	T			TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	g.chr1:247835570G>T	ENST00000359688.2	-	1	795	c.774C>A	c.(772-774)cgC>cgA	p.R258R	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005487.1	NP_001005487.1	Q8NGZ3	O13G1_HUMAN	olfactory receptor, family 13, subfamily G, member 1	258					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(28)|skin(2)	35	all_cancers(71;3.24e-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)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			TGGAAGCAGGGCGGATATAGG	0.463													26	145					1.75199e-13	1.85504e-13	1	1	0	T	247835570	G	T	247835570	2	4	302	1	0	0	0	0	0	0	0	1	10990	1190	42	5		5	OR13G1	1	247835570	Silent	SNP	G	TCGA-HT-8109-01A-11D-2395-08	12490332	247835570	1415051	6	29089											
CYP26B1	56603	broad.mit.edu	37	2	72362274	72362274	+	Splice_Site	SNP	C	C	T			TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	g.chr2:72362274C>T	ENST00000001146.2	-	3	907	c.704G>A	c.(703-705)cGg>cAg	p.R235Q	CYP26B1_ENST00000412253.1_Splice_Site_p.R44Q|CYP26B1_ENST00000546307.1_Splice_Site_p.R160Q	NM_001277742.1|NM_019885.2	NP_001264671.1|NP_063938.1	Q9NR63	CP26B_HUMAN	cytochrome P450, family 26, subfamily B, polypeptide 1	235					cell fate determination|embryonic limb morphogenesis|male meiosis|negative regulation of retinoic acid receptor signaling pathway|proximal/distal pattern formation|retinoic acid catabolic process|spermatogenesis|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding			breast(1)|kidney(3)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)	28						GGTGCTCACCCGCCGGTAGCC	0.637													4	55					0	0	1	0	0	T	72362274	C	T	72362274	5	4	302	1	0	0	0	0	0	0	1	0	4179	666	23	1	850	1	CYP26B1	2	72362274	Splice_Site	SNP	C	TCGA-HT-8109-01A-11D-2395-08		72362274	170837099	7	29090											
FBLN7	129804	broad.mit.edu	37	2	112944825	112944825	+	Silent	SNP	C	C	T			TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	g.chr2:112944825C>T	ENST00000331203.2	+	8	1333	c.1062C>T	c.(1060-1062)ctC>ctT	p.L354L	FBLN7_ENST00000409450.3_Silent_p.L308L|FBLN7_ENST00000409903.1_Intron|FBLN7_ENST00000409667.3_Silent_p.L220L	NM_001128165.1|NM_153214.2	NP_001121637.1|NP_694946.2	Q53RD9	FBLN7_HUMAN	fibulin 7	354					cell adhesion	proteinaceous extracellular matrix	calcium ion binding|heparin binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						CCATCACGCTCTTCCGCATGG	0.647													15	176					0	0	1	0	0	T	112944825	C	T	112944825	2	4	302	1	0	0	0	0	0	0	0	1	5734	900	32	2		2	FBLN7	2	112944825	Silent	SNP	C	TCGA-HT-8109-01A-11D-2395-08	40582551	112944825	130254548	8	29091											
ZNF804A	91752	broad.mit.edu	37	2	185802239	185802239	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	g.chr2:185802239G>A	ENST00000302277.6	+	4	2710	c.2116G>A	c.(2116-2118)Gca>Aca	p.A706T		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	706						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						ACAATCAAATGCAACAATGAT	0.308													4	98					0	0	1	0	0	A	185802239	G	A	185802239	3	1	302	1	0	0	0	0	1	0	0	0	18219	1319	46	2	2130	2	ZNF804A	2	185802239	Missense_Mutation	SNP	G	TCGA-HT-8109-01A-11D-2395-08	72857414	185802239	57397134	9	29092											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	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	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								26	74					0	0	1	0	0	T	209113112	C	T	209113112	3	4	302	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HT-8109-01A-11D-2395-08	23310873	209113112	34086261	10	29093											
DNAH5	1767	broad.mit.edu	37	5	13919350	13919350	+	Silent	SNP	A	A	G			TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	g.chr5:13919350A>G	ENST00000265104.4	-	7	1014	c.910T>C	c.(910-912)Ttg>Ctg	p.L304L		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	304	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GGGCTTTTCAATTGTTCCAAA	0.507									Kartagener syndrome				28	218					0	0	1	0	0	G	13919350	A	G	13919350	2	3	302	1	0	0	0	0	0	0	0	1	4632	98	4	3		3	DNAH5	5	13919350	Silent	SNP	A	TCGA-HT-8109-01A-11D-2395-08		13919350	166995910	11	29094											
CWC27	10283	broad.mit.edu	37	5	64096085	64096085	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	g.chr5:64096085G>A	ENST00000508024.1	+	8	881	c.680G>A	c.(679-681)gGc>gAc	p.G227D	CWC27_ENST00000381070.3_Missense_Mutation_p.G227D			Q6UX04	CWC27_HUMAN	CWC27 spliceosome-associated protein homolog (S. cerevisiae)	227					protein folding	catalytic step 2 spliceosome	peptidyl-prolyl cis-trans isomerase activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(5)|prostate(1)	21						AGCATGAAGGGCAAAAGCAAA	0.358													4	94					0	0	1	0	0	A	64096085	G	A	64096085	3	1	302	1	0	0	0	0	1	0	0	0	4093	1203	42	2	710	2	CWC27	5	64096085	Missense_Mutation	SNP	G	TCGA-HT-8109-01A-11D-2395-08	50176735	64096085	116819175	12	29095											
ATP6AP1L	92270	broad.mit.edu	37	5	81608458	81608458	+	Missense_Mutation	SNP	T	T	G			TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	g.chr5:81608458T>G	ENST00000380167.4	+	9	1485	c.160T>G	c.(160-162)Tcc>Gcc	p.S54A	ATP6AP1L_ENST00000439350.1_Missense_Mutation_p.S54A|ATP6AP1L_ENST00000508366.1_3'UTR			Q52LC2	VAS1L_HUMAN	ATPase, H+ transporting, lysosomal accessory protein 1-like	54					ATP hydrolysis coupled proton transport	integral to membrane|proton-transporting V-type ATPase, V1 domain	hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	12						CAACAAGTTGTCCATCCAGAG	0.413											OREG0016689	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	17	213					0	0	1	0	0	G	81608458	T	G	81608458	3	3	302	1	0	0	0	0	1	0	0	0	1164	1667	58	5	170	5	ATP6AP1L	5	81608458	Missense_Mutation	SNP	T	TCGA-HT-8109-01A-11D-2395-08	17512373	81608458	99306802	13	29096											
HTR4	3360	broad.mit.edu	37	5	147889456	147889456	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	g.chr5:147889456G>T	ENST00000360693.3	-	6	777	c.639C>A	c.(637-639)taC>taA	p.Y213*	HTR4_ENST00000314512.6_Nonsense_Mutation_p.Y213*|HTR4_ENST00000362016.2_Nonsense_Mutation_p.Y227*|HTR4_ENST00000354217.2_Nonsense_Mutation_p.Y213*|HTR4_ENST00000521530.1_Nonsense_Mutation_p.Y213*|HTR4_ENST00000521735.1_Nonsense_Mutation_p.Y213*|HTR4_ENST00000377888.3_Nonsense_Mutation_p.Y213*|HTR4_ENST00000520514.1_Nonsense_Mutation_p.Y213*|HTR4_ENST00000517929.1_Nonsense_Mutation_p.Y213*	NM_001040173.2	NP_001035263.1	Q13639	5HT4R_HUMAN	5-hydroxytryptamine (serotonin) receptor 4, G protein-coupled	213					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cell proliferation	endosome|integral to plasma membrane|membrane fraction	serotonin receptor activity			endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Cisapride(DB00604)|Rizatriptan(DB00953)|Tegaserod(DB01079)|Zolmitriptan(DB00315)	CATAGATGCGGTAATAGGCCA	0.542													23	38					2.89027e-11	3.01593e-11	1	1	0	T	147889456	G	T	147889456	4	4	302	1	0	0	0	0	0	1	0	0	7493	1256	44	5	831	5	HTR4	5	147889456	Nonsense_Mutation	SNP	G	TCGA-HT-8109-01A-11D-2395-08	66280998	147889456	33025804	14	29097											
C6orf10	10665	broad.mit.edu	37	6	32261116	32261116	+	Missense_Mutation	SNP	T	T	G			TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	g.chr6:32261116T>G	ENST00000375015.4	-	26	1531	c.1331A>C	c.(1330-1332)aAg>aCg	p.K444T	C6orf10_ENST00000442822.2_Missense_Mutation_p.K436T|C6orf10_ENST00000533191.1_Missense_Mutation_p.K443T|C6orf10_ENST00000527965.1_Missense_Mutation_p.K429T|C6orf10_ENST00000447241.2_Missense_Mutation_p.K445T|C6orf10_ENST00000375007.4_Missense_Mutation_p.K443T			Q5SRN2	CF010_HUMAN	chromosome 6 open reading frame 10	445						integral to membrane				cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	25						TGCCTCACTCTTCTTTTCTTG	0.458													27	345					0	0	1	0	0	G	32261116	T	G	32261116	3	3	302	1	0	0	0	0	1	0	0	0	2331	1609	56	5	361	5	C6orf10	6	32261116	Missense_Mutation	SNP	T	TCGA-HT-8109-01A-11D-2395-08		32261116	138853951	15	29098											
FAM83B	222584	broad.mit.edu	37	6	54735129	54735129	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	g.chr6:54735129C>T	ENST00000306858.7	+	2	201	c.85C>T	c.(85-87)Cga>Tga	p.R29*		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	29										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					GGAATGGTATCGAGTAGCCAT	0.403													55	141					0	0	1	0	0	T	54735129	C	T	54735129	4	4	302	1	0	0	0	0	0	1	0	0	5666	876	31	1	87	1	FAM83B	6	54735129	Nonsense_Mutation	SNP	C	TCGA-HT-8109-01A-11D-2395-08	22474013	54735129	116379938	16	29099											
TACC1	6867	broad.mit.edu	37	8	38678119	38678119	+	Missense_Mutation	SNP	G	G	C			TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	g.chr8:38678119G>C	ENST00000379931.3	+	3	1736	c.1357G>C	c.(1357-1359)Gaa>Caa	p.E453Q	TACC1_ENST00000518415.1_Missense_Mutation_p.E408Q|TACC1_ENST00000520615.1_Missense_Mutation_p.E258Q|TACC1_ENST00000443286.2_Missense_Mutation_p.E469Q|TACC1_ENST00000522752.1_Intron|TACC1_ENST00000519416.1_Missense_Mutation_p.E258Q|TACC1_ENST00000317827.4_Missense_Mutation_p.E453Q|TACC1_ENST00000348567.4_Intron|TACC1_ENST00000520973.1_Missense_Mutation_p.E258Q|TACC1_ENST00000520611.1_5'UTR|TACC1_ENST00000520340.1_Missense_Mutation_p.E417Q|TACC1_ENST00000276520.8_Intron|TACC1_ENST00000330691.6_Intron			O75410	TACC1_HUMAN	transforming, acidic coiled-coil containing protein 1	453	SPAZ 2.				cell cycle|cell division	intermediate filament cytoskeleton|microtubule organizing center|nucleus	protein binding			breast(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(3)	17		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.065)	LUSC - Lung squamous cell carcinoma(45;1.7e-09)|COAD - Colon adenocarcinoma(9;0.235)			TGAAATCTTAGAATCACCCAA	0.453													104	212					0	0	1	0	0	C	38678119	G	C	38678119	3	2	302	1	0	0	0	0	1	0	0	0	15558	943	33	4	1367	4	TACC1	8	38678119	Missense_Mutation	SNP	G	TCGA-HT-8109-01A-11D-2395-08		38678119	107685903	17	29100											
KIF24	347240	broad.mit.edu	37	9	34257924	34257924	+	Missense_Mutation	SNP	G	G	A	rs144983593		TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	g.chr9:34257924G>A	ENST00000379166.2	-	11	1800	c.1681C>T	c.(1681-1683)Cgg>Tgg	p.R561W	KIF24_ENST00000379174.3_Missense_Mutation_p.R427W|KIF24_ENST00000345050.2_Missense_Mutation_p.R427W|KIF24_ENST00000402558.2_Missense_Mutation_p.R561W	NM_194313.2	NP_919289.2	Q5T7B8	KIF24_HUMAN	kinesin family member 24	561					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(13)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	32			LUSC - Lung squamous cell carcinoma(29;0.0107)			CCAGATGTCCGATTTCGACTG	0.398													112	56					0	0	1	0	0	A	34257924	G	A	34257924	3	1	302	1	0	0	0	0	1	0	0	0	8334	1057	37	1	2437	1	KIF24	9	34257924	Missense_Mutation	SNP	G	TCGA-HT-8109-01A-11D-2395-08		34257924	106955507	18	29101											
FAM120A	23196	broad.mit.edu	37	9	96324505	96324505	+	Silent	SNP	T	T	A			TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	g.chr9:96324505T>A	ENST00000277165.6	+	17	3158	c.2964T>A	c.(2962-2964)gtT>gtA	p.V988V	FAM120A_ENST00000333936.5_Silent_p.V1016V|FAM120A_ENST00000340893.4_Silent_p.V942V	NM_014612.3	NP_055427.2	Q9NZB2	F120A_HUMAN	family with sequence similarity 120A	988	RNA binding.					cytoplasm|plasma membrane	RNA binding			endometrium(5)|kidney(3)|large_intestine(8)|lung(12)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						CAAGAGGAGTTATTTCCACCC	0.368													18	46					0	0	1	0	0	A	96324505	T	A	96324505	2	1	302	1	0	0	0	0	0	0	0	1	5446	1741	61	5		5	FAM120A	9	96324505	Silent	SNP	T	TCGA-HT-8109-01A-11D-2395-08	62066581	96324505	44888926	19	29102											
GBGT1	26301	broad.mit.edu	37	9	136029281	136029281	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	g.chr9:136029281G>A	ENST00000372040.3	-	7	1038	c.727C>T	c.(727-729)Cgc>Tgc	p.R243C	GBGT1_ENST00000540636.1_Missense_Mutation_p.R226C|RALGDS_ENST00000542690.1_Intron|GBGT1_ENST00000372043.3_Silent_p.S236S|GBGT1_ENST00000472281.1_5'UTR	NM_001282629.1	NP_001269558.1			globoside alpha-1,3-N-acetylgalactosaminyltransferase 1											breast(2)|endometrium(1)|kidney(4)|lung(2)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(145;3.49e-06)|Epithelial(140;2.59e-05)		ACACGCCTGCGCTCATAGGGG	0.602													44	97					0	0	1	0	0	A	136029281	G	A	136029281	3	1	302	1	0	0	0	0	1	0	0	0	6312	1087	38	1	320	1	GBGT1	9	136029281	Missense_Mutation	SNP	G	TCGA-HT-8109-01A-11D-2395-08	39704776	136029281	5184150	20	29103											
OGDHL	55753	broad.mit.edu	37	10	50953529	50953529	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	g.chr10:50953529C>T	ENST00000374103.4	-	12	1575	c.1490G>A	c.(1489-1491)cGg>cAg	p.R497Q	OGDHL_ENST00000432695.1_Missense_Mutation_p.R288Q|OGDHL_ENST00000419399.1_Missense_Mutation_p.R440Q	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	497					glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						GTGGCCACGCCGGCGGTAACA	0.572													26	73					0	0	1	0	0	T	50953529	C	T	50953529	3	4	302	1	0	0	0	0	1	0	0	0	10888	652	23	1	1590	1	OGDHL	10	50953529	Missense_Mutation	SNP	C	TCGA-HT-8109-01A-11D-2395-08		50953529	84581218	21	29104											
ADK	132	broad.mit.edu	37	10	76360239	76360239	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	g.chr10:76360239A>G	ENST00000372734.3	+	9	1001	c.814A>G	c.(814-816)Ata>Gta	p.I272V	ADK_ENST00000541550.1_Missense_Mutation_p.I254V|ADK_ENST00000539909.1_Missense_Mutation_p.I232V|ADK_ENST00000286621.2_Missense_Mutation_p.I289V	NM_001123.3|NM_001202449.1	NP_001114.2|NP_001189378.1	P55263	ADK_HUMAN	adenosine kinase	289					purine base metabolic process|purine ribonucleoside salvage	cytosol	adenosine kinase activity|ATP binding|metal ion binding|phosphotransferase activity, alcohol group as acceptor			breast(1)|large_intestine(2)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	8	Prostate(51;0.0112)|Ovarian(15;0.148)				Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)|Pegademase bovine(DB00061)|Ribavirin(DB00811)	AGATGACACTATAATGGCTAC	0.348													7	33					0	0	1	0	0	G	76360239	A	G	76360239	3	3	302	1	0	0	0	0	1	0	0	0	319	449	16	3	917	3	ADK	10	76360239	Missense_Mutation	SNP	A	TCGA-HT-8109-01A-11D-2395-08	25406710	76360239	59174508	22	29105											
LOXL4	84171	broad.mit.edu	37	10	100013489	100013489	+	Silent	SNP	C	C	T			TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	g.chr10:100013489C>T	ENST00000260702.3	-	11	1806	c.1656G>A	c.(1654-1656)ccG>ccA	p.P552P	RP11-34A14.3_ENST00000433374.1_RNA	NM_032211.6	NP_115587.6	Q96JB6	LOXL4_HUMAN	lysyl oxidase-like 4	552	Lysyl-oxidase like.					extracellular space|membrane	copper ion binding|protein binding|scavenger receptor activity			breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(8)|ovary(4)|prostate(1)|skin(2)	26		Colorectal(252;0.234)		Epithelial(162;2.14e-11)|all cancers(201;2.49e-09)		GCTGGCTGAGCGGGCGGTCCT	0.627													23	49					0	0	1	0	0	T	100013489	C	T	100013489	2	4	302	1	0	0	0	0	0	0	0	1	8947	755	27	1		1	LOXL4	10	100013489	Silent	SNP	C	TCGA-HT-8109-01A-11D-2395-08	23653250	100013489	35521258	23	29106											
ADRBK1	156	broad.mit.edu	37	11	67046685	67046685	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	g.chr11:67046685C>G	ENST00000308595.5	+	3	495	c.205C>G	c.(205-207)Cga>Gga	p.R69G	ADRBK1_ENST00000526285.1_Missense_Mutation_p.R69G	NM_001619.3	NP_001610.2	P25098	ARBK1_HUMAN	adrenergic, beta, receptor kinase 1	69	N-terminal.|RGS.				activation of phospholipase C activity|cardiac muscle contraction|desensitization of G-protein coupled receptor protein signaling pathway|muscarinic acetylcholine receptor signaling pathway|negative regulation of striated muscle contraction|negative regulation of the force of heart contraction by chemical signal|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of catecholamine secretion|tachykinin receptor signaling pathway	cytosol|soluble fraction	alpha-2A adrenergic receptor binding|ATP binding|beta-adrenergic receptor kinase activity|Edg-2 lysophosphatidic acid receptor binding|G-protein coupled receptor kinase activity|signal transducer activity	p.R69R(1)		cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)	22			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		Adenosine triphosphate(DB00171)	CCTGCTCTTCCGAGACTTCTG	0.592													6	71					0	0	1	0	0	G	67046685	C	G	67046685	3	3	302	1	0	0	0	0	1	0	0	0	342	644	23	5	215	5	ADRBK1	11	67046685	Missense_Mutation	SNP	C	TCGA-HT-8109-01A-11D-2395-08		67046685	67959831	24	29107											
TAPBPL	55080	broad.mit.edu	37	12	6567822	6567822	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	g.chr12:6567822G>A	ENST00000266556.7	+	5	1081	c.916G>A	c.(916-918)Gta>Ata	p.V306I	TAPBPL_ENST00000545700.1_3'UTR|TAPBPL_ENST00000544021.1_3'UTR	NM_018009.4	NP_060479.3	Q9BX59	TPSNR_HUMAN	TAP binding protein-like	306	Ig-like C1-type.				antigen processing and presentation of endogenous peptide antigen via MHC class I	endoplasmic reticulum membrane|integral to membrane|microsome|plasma membrane				endometrium(2)|large_intestine(1)|skin(2)|upper_aerodigestive_tract(1)	6						TTCCCCTAAAGTACGACTGAG	0.522													11	145					0	0	1	0	0	A	6567822	G	A	6567822	3	1	302	1	0	0	0	0	1	0	0	0	15610	1029	36	2	934	2	TAPBPL	12	6567822	Missense_Mutation	SNP	G	TCGA-HT-8109-01A-11D-2395-08		6567822	127284073	25	29108											
ATF7IP	55729	broad.mit.edu	37	12	14634097	14634097	+	Silent	SNP	T	T	C			TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	g.chr12:14634097T>C	ENST00000544627.1	+	13	3602	c.3282T>C	c.(3280-3282)gtT>gtC	p.V1094V	ATF7IP_ENST00000261168.4_Silent_p.V1086V|ATF7IP_ENST00000543189.1_Silent_p.V1085V|ATF7IP_ENST00000536444.1_Silent_p.V1085V|ATF7IP_ENST00000540793.1_Silent_p.V1086V			Q6VMQ6	MCAF1_HUMAN	activating transcription factor 7 interacting protein	1086					DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent		protein binding			cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						CTCCTGCTGTTCGGCAGGTCA	0.453													7	132					0	0	1	0	0	C	14634097	T	C	14634097	2	2	302	1	0	0	0	0	0	0	0	1	1086	1770	62	3		3	ATF7IP	12	14634097	Silent	SNP	T	TCGA-HT-8109-01A-11D-2395-08	8066275	14634097	119217798	26	29109											
DDIT3	1649	broad.mit.edu	37	12	57911132	57911132	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	g.chr12:57911132C>T	ENST00000551116.1	-	3	394	c.127G>A	c.(127-129)Gcc>Acc	p.A43T	DDIT3_ENST00000547303.1_Missense_Mutation_p.A20T|DDIT3_ENST00000346473.3_Missense_Mutation_p.A20T|DDIT3_ENST00000552740.1_Missense_Mutation_p.A43T	NM_001195053.1|NM_001195054.1|NM_001195055.1|NM_001195056.1	NP_001181982.1|NP_001181983.1|NP_001181984.1|NP_001181985.1	P35638	DDIT3_HUMAN	DNA-damage-inducible transcript 3	20					cell cycle arrest|cell redox homeostasis|mRNA transcription from RNA polymerase II promoter|negative regulation of determination of dorsal identity|regulation of DNA-dependent transcription in response to stress|response to DNA damage stimulus	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription factor binding		EWSR1/DDIT3(45)|FUS/DDIT3(631)	central_nervous_system(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)|skin(1)	16						TCATACCAGGCTTCCAGCTCC	0.493			T	FUS	liposarcoma								22	39					0	0	1	0	0	T	57911132	C	T	57911132	3	4	302	1	0	0	0	0	1	0	0	0	4353	797	28	2	459	2	DDIT3	12	57911132	Missense_Mutation	SNP	C	TCGA-HT-8109-01A-11D-2395-08	43277035	57911132	75940763	27	29110											
FLT3	2322	broad.mit.edu	37	13	28609684	28609684	+	Silent	SNP	A	A	G			TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	g.chr13:28609684A>G	ENST00000380982.4	-	12	1626	c.1545T>C	c.(1543-1545)tgT>tgC	p.C515C	FLT3_ENST00000537084.1_Silent_p.C515C|FLT3_ENST00000241453.7_Silent_p.C515C			P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	515					positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Sorafenib(DB00398)|Sunitinib(DB01268)	AATTGTATGCACAGCACTTGA	0.438			"Mis, O"		"AML, ALL"								18	153					0	0	1	0	0	G	28609684	A	G	28609684	2	3	302	1	0	0	0	0	0	0	0	1	5975	157	6	3		3	FLT3	13	28609684	Silent	SNP	A	TCGA-HT-8109-01A-11D-2395-08		28609684	86560194	28	29111											
FLT3	2322	broad.mit.edu	37	13	28611413	28611413	+	Silent	SNP	A	A	G			TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	g.chr13:28611413A>G	ENST00000380982.4	-	10	1299	c.1218T>C	c.(1216-1218)ttT>ttC	p.F406F	FLT3_ENST00000537084.1_Silent_p.F406F|FLT3_ENST00000241453.7_Silent_p.F406F			P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	406					positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Sorafenib(DB00398)|Sunitinib(DB01268)	TATGATTGCAAAACTTGGATA	0.378			"Mis, O"		"AML, ALL"								9	75					0	0	1	0	0	G	28611413	A	G	28611413	2	3	302	1	0	0	0	0	0	0	0	1	5975	11	1	3		3	FLT3	13	28611413	Silent	SNP	A	TCGA-HT-8109-01A-11D-2395-08	1729	28611413	86558465	29	29112											
SDR39U1	56948	broad.mit.edu	37	14	24909494	24909494	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	g.chr14:24909494G>T	ENST00000554698.1	-	4	860	c.353C>A	c.(352-354)gCt>gAt	p.A118D	SDR39U1_ENST00000555365.1_Missense_Mutation_p.A59D|SDR39U1_ENST00000553930.1_Missense_Mutation_p.A101D|SDR39U1_ENST00000399390.1_Missense_Mutation_p.A131D|SDR39U1_ENST00000538105.2_Missense_Mutation_p.A144D|SDR39U1_ENST00000555561.1_5'UTR|SDR39U1_ENST00000399395.3_Missense_Mutation_p.A226D|KHNYN_ENST00000251343.5_3'UTR			Q9NRG7	D39U1_HUMAN	short chain dehydrogenase/reductase family 39U, member 1	252							binding			NS(1)|central_nervous_system(1)|large_intestine(2)|pancreas(1)	5						GGCAAACTCAGCATTAGTGGC	0.617													21	37					4.96729e-08	5.03725e-08	1	1	0	T	24909494	G	T	24909494	3	4	302	1	0	0	0	0	1	0	0	0	14026	971	34	4	208	4	SDR39U1	14	24909494	Missense_Mutation	SNP	G	TCGA-HT-8109-01A-11D-2395-08		24909494	82440046	30	29113											
DUOX2	50506	broad.mit.edu	37	15	45398797	45398797	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	g.chr15:45398797C>T	ENST00000389039.6	-	16	2259	c.1874G>A	c.(1873-1875)cGa>cAa	p.R625Q	DUOX2_ENST00000603300.1_Missense_Mutation_p.R625Q			Q9NRD8	DUOX2_HUMAN	dual oxidase 2	625					cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		CTTGTGTTCTCGGCCCCGGAA	0.557													31	165					0	0	1	0	0	T	45398797	C	T	45398797	3	4	302	1	0	0	0	0	1	0	0	0	4827	884	31	1	2848	1	DUOX2	15	45398797	Missense_Mutation	SNP	C	TCGA-HT-8109-01A-11D-2395-08		45398797	57132595	31	29114											
HERC1	8925	broad.mit.edu	37	15	63972937	63972937	+	Silent	SNP	C	C	T			TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	g.chr15:63972937C>T	ENST00000443617.2	-	35	6351	c.6264G>A	c.(6262-6264)acG>acA	p.T2088T	RP11-317G6.1_ENST00000559303.2_RNA	NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	2088	B30.2/SPRY.				protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						CTCCAACACACGTGCCTTCAT	0.373													23	168					0	0	1	0	0	T	63972937	C	T	63972937	2	4	302	1	0	0	0	0	0	0	0	1	7098	523	19	1		1	HERC1	15	63972937	Silent	SNP	C	TCGA-HT-8109-01A-11D-2395-08	18574140	63972937	38558455	32	29115											
MYO9A	4649	broad.mit.edu	37	15	72190411	72190411	+	Nonsense_Mutation	SNP	A	A	T			TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	g.chr15:72190411A>T	ENST00000356056.5	-	25	4905	c.4433T>A	c.(4432-4434)tTg>tAg	p.L1478*	MYO9A_ENST00000444904.1_Nonsense_Mutation_p.L1459*|MYO9A_ENST00000564571.1_Nonsense_Mutation_p.L1478*|MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000424560.1_Nonsense_Mutation_p.L1478*|MYO9A_ENST00000566885.1_Nonsense_Mutation_p.L1098*	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	1478	Tail.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						CTCTGTATTCAAAGAAGGAAC	0.393													10	114					0	0	1	0	0	T	72190411	A	T	72190411	4	4	302	1	0	0	0	0	0	1	0	0	10132	131	5	5	3285	5	MYO9A	15	72190411	Nonsense_Mutation	SNP	A	TCGA-HT-8109-01A-11D-2395-08	8217474	72190411	30340981	33	29116											
PALB2	79728	broad.mit.edu	37	16	23646265	23646265	+	Silent	SNP	A	A	G			TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	g.chr16:23646265A>G	ENST00000261584.4	-	4	1754	c.1602T>C	c.(1600-1602)tcT>tcC	p.S534S		NM_024675.3	NP_078951.2	Q86YC2	PALB2_HUMAN	partner and localizer of BRCA2	534					double-strand break repair via homologous recombination	nucleoplasm	DNA binding|protein binding			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(3)	55				GBM - Glioblastoma multiforme(48;0.0167)		TCGACAGGCTAGAAGTTGGCA	0.418			"F, N, Mis"			"Wilms tumor, medulloblastoma, AML ,breast"		Involved in tolerance or repair of DNA crosslinks					5	127					0	0	1	0	0	G	23646265	A	G	23646265	2	3	302	1	0	0	0	0	0	0	0	1	11453	407	15	3		3	PALB2	16	23646265	Silent	SNP	A	TCGA-HT-8109-01A-11D-2395-08		23646265	66708488	34	29117											
GDPD1	284161	broad.mit.edu	37	17	57348316	57348316	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	g.chr17:57348316A>G	ENST00000284116.4	+	8	867	c.730A>G	c.(730-732)Atg>Gtg	p.M244V	GDPD1_ENST00000581276.1_Missense_Mutation_p.M244V|GDPD1_ENST00000581140.1_Missense_Mutation_p.M244V	NM_182569.3	NP_872375.2	Q8N9F7	GDPD1_HUMAN	glycerophosphodiester phosphodiesterase domain containing 1	244	GDPD.				glycerol metabolic process|lipid metabolic process	cytoplasm|integral to membrane	glycerophosphodiester phosphodiesterase activity|metal ion binding			endometrium(1)|kidney(1)|liver(1)|lung(2)|upper_aerodigestive_tract(1)	6	all_neural(34;0.0837)|Medulloblastoma(34;0.0922)					ACCACACACCATGTCCAGAAG	0.279													34	76					0	0	1	0	0	G	57348316	A	G	57348316	3	3	302	1	0	0	0	0	1	0	0	0	6365	217	8	3	760	3	GDPD1	17	57348316	Missense_Mutation	SNP	A	TCGA-HT-8109-01A-11D-2395-08		57348316	23846894	35	29118											
SMARCD2	6603	broad.mit.edu	37	17	61911645	61911645	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	g.chr17:61911645C>T	ENST00000448276.2	-	8	1230	c.965G>A	c.(964-966)gGa>gAa	p.G322E	SMARCD2_ENST00000225742.9_Missense_Mutation_p.G247E|SMARCD2_ENST00000323347.10_Missense_Mutation_p.G274E	NM_001098426.1	NP_001091896.1	Q92925	SMRD2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 2	322	SWIB.				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	SWI/SNF complex	protein binding|transcription coactivator activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(1)	8						CGTGTGCACTCCCAGCAGCCT	0.567											OREG0024642	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	23					0	0	1	0	0	T	61911645	C	T	61911645	3	4	302	1	0	0	0	0	1	0	0	0	14832	855	30	2	654	2	SMARCD2	17	61911645	Missense_Mutation	SNP	C	TCGA-HT-8109-01A-11D-2395-08	4563329	61911645	19283565	36	29119											
SMARCA4	6597	broad.mit.edu	37	19	11135091	11135091	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	g.chr19:11135091G>T	ENST00000358026.2	+	21	3342	c.3058G>T	c.(3058-3060)Gat>Tat	p.D1020Y	SMARCA4_ENST00000429416.3_Missense_Mutation_p.D1020Y|SMARCA4_ENST00000344626.4_Missense_Mutation_p.D1020Y|SMARCA4_ENST00000589677.1_Missense_Mutation_p.D1020Y|SMARCA4_ENST00000444061.3_Missense_Mutation_p.D1020Y|SMARCA4_ENST00000413806.3_Missense_Mutation_p.D1020Y|SMARCA4_ENST00000541122.2_Missense_Mutation_p.D1020Y|SMARCA4_ENST00000590574.1_Missense_Mutation_p.D1020Y|SMARCA4_ENST00000450717.3_Missense_Mutation_p.D1020Y	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	1020					chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				GCTGCTGACTGATGGCTCCGA	0.627			"F, N, Mis"		NSCLC								18	33					9.16793e-09	9.42987e-09	1	1	0	T	11135091	G	T	11135091	3	4	302	1	0	0	0	0	1	0	0	0	14824	1290	45	5	3136	5	SMARCA4	19	11135091	Missense_Mutation	SNP	G	TCGA-HT-8109-01A-11D-2395-08		11135091	47993892	37	29120											
ZNF490	57474	broad.mit.edu	37	19	12692359	12692359	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	g.chr19:12692359G>A	ENST00000311437.6	-	5	652	c.530C>T	c.(529-531)tCt>tTt	p.S177F		NM_020714.2	NP_065765.1	Q9ULM2	ZN490_HUMAN	zinc finger protein 490	177					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	18						TTCAGTGTGAGATCTCATGTG	0.443													72	131					0	0	1	0	0	A	12692359	G	A	12692359	3	1	302	1	0	0	0	0	1	0	0	0	17998	942	33	2	1063	2	ZNF490	19	12692359	Missense_Mutation	SNP	G	TCGA-HT-8109-01A-11D-2395-08	1557268	12692359	46436624	38	29121											
IL27RA	9466	broad.mit.edu	37	19	14157294	14157294	+	Silent	SNP	G	G	A			TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	g.chr19:14157294G>A	ENST00000263379.2	+	8	1130	c.1005G>A	c.(1003-1005)acG>acA	p.T335T		NM_004843.3	NP_004834.1	Q6UWB1	I27RA_HUMAN	interleukin 27 receptor, alpha	335	Fibronectin type-III 2.				cell surface receptor linked signaling pathway|immune response	integral to plasma membrane	transmembrane receptor activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	26						CTGGGAGCACGGAGCTACTGG	0.627													14	203					0	0	1	0	0	A	14157294	G	A	14157294	2	1	302	1	0	0	0	0	0	0	0	1	7725	1103	39	1		1	IL27RA	19	14157294	Silent	SNP	G	TCGA-HT-8109-01A-11D-2395-08	1464935	14157294	44971689	39	29122											
ZNF681	148213	broad.mit.edu	37	19	23927189	23927189	+	Missense_Mutation	SNP	T	T	C	rs145416258	byFrequency	TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	g.chr19:23927189T>C	ENST00000402377.3	-	4	1304	c.1163A>G	c.(1162-1164)cAt>cGt	p.H388R	ZNF681_ENST00000395385.3_Missense_Mutation_p.H319R	NM_138286.2	NP_612143.2	Q96N22	ZN681_HUMAN	zinc finger protein 681	388					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3)	21		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				CTCTCCAGTATGAATTATCTT	0.398													30	56					0	0	1	0	0	C	23927189	T	C	23927189	3	2	302	1	0	0	0	0	1	0	0	0	18144	1464	51	3	778	3	ZNF681	19	23927189	Missense_Mutation	SNP	T	TCGA-HT-8109-01A-11D-2395-08	9769895	23927189	35201794	40	29123											
ZNF229	7772	broad.mit.edu	37	19	44932761	44932761	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	g.chr19:44932761C>T	ENST00000291187.4	-	6	2499	c.2177G>A	c.(2176-2178)aGa>aAa	p.R726K	ZNF229_ENST00000591289.1_Intron|ZNF229_ENST00000588931.1_Missense_Mutation_p.R732K|CTC-512J12.4_ENST00000588655.1_RNA	NM_001278510.1	NP_001265439.1	Q9UJW7	ZN229_HUMAN	zinc finger protein 229	732					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45		Prostate(69;0.0352)				AGTGTGCACTCTCTTATGACT	0.517													4	45					0	0	1	0	0	T	44932761	C	T	44932761	3	4	302	1	0	0	0	0	1	0	0	0	17840	913	32	2	286	2	ZNF229	19	44932761	Missense_Mutation	SNP	C	TCGA-HT-8109-01A-11D-2395-08	21005572	44932761	14196222	41	29124											
IQGAP3	128239	broad.mit.edu	37	1	156499981	156499981	+	Silent	SNP	G	G	C			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr1:156499981G>C	ENST00000361170.2	-	34	4330	c.4320C>G	c.(4318-4320)gtC>gtG	p.V1440V		NM_178229.4	NP_839943.2	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	1440					small GTPase mediated signal transduction	intracellular	calmodulin binding|Ras GTPase activator activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GGTTCCGCAGGACGCGCCGCT	0.647													6	11					0	0	1	0	0	C	156499981	G	C	156499981	2	2	303	1	0	0	0	0	0	0	0	1	7860	1161	41	5		5	IQGAP3	1	156499981	Silent	SNP	G	TCGA-HT-8110-01A-11D-2395-08		156499981	92750640	1	29125											
RXRG	6258	broad.mit.edu	37	1	165389159	165389159	+	Silent	SNP	G	G	A			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr1:165389159G>A	ENST00000359842.5	-	3	692	c.390C>T	c.(388-390)agC>agT	p.S130S	RXRG_ENST00000470566.1_5'UTR	NM_001256570.1|NM_006917.4	NP_001243499.1|NP_008848.1	P48443	RXRG_HUMAN	retinoid X receptor, gamma	130	Modulating (By similarity).				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			endometrium(1)|kidney(3)|large_intestine(6)|lung(22)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	38	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)				Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tretinoin(DB00755)	GAGATCCGGGGCTGGTGGATG	0.522													12	37					0	0	1	0	0	A	165389159	G	A	165389159	2	1	303	1	0	0	0	0	0	0	0	1	13817	1194	42	2		2	RXRG	1	165389159	Silent	SNP	G	TCGA-HT-8110-01A-11D-2395-08	8889178	165389159	83861462	2	29126											
H3F3A	3020	broad.mit.edu	37	1	226252059	226252059	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr1:226252059C>T	ENST00000366814.3	+	2	128	c.7C>T	c.(7-9)Cgt>Tgt	p.R3C	H3F3A_ENST00000366813.1_Missense_Mutation_p.R3C|H3F3A_ENST00000366816.1_Missense_Mutation_p.R3C|H3F3A_ENST00000366815.3_Missense_Mutation_p.R3C					H3 histone, family 3A									p.R3C(1)		central_nervous_system(116)|endometrium(2)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	123	Breast(184;0.179)			GBM - Glioblastoma multiforme(131;0.203)		TACCATGGCTCGTACAAAGCA	0.498			Mis		glioma						OREG0014293	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	18					0	0	1	0	0	T	226252059	C	T	226252059	3	4	303	1	0	0	0	0	1	0	0	0	6974	884	31	1	9	1	H3F3A	1	226252059	Missense_Mutation	SNP	C	TCGA-HT-8110-01A-11D-2395-08	60862900	226252059	22998562	3	29127											
OBSCN	84033	broad.mit.edu	37	1	228461596	228461596	+	Translation_Start_Site	SNP	G	G	A			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr1:228461596G>A	ENST00000366707.4	+	0	5307				RP5-1139B12.2_ENST00000602517.1_RNA|OBSCN_ENST00000359599.6_Missense_Mutation_p.D602N|OBSCN_ENST00000422127.1_Missense_Mutation_p.D1755N|OBSCN_ENST00000570156.2_Missense_Mutation_p.D2130N|OBSCN_ENST00000284548.11_Missense_Mutation_p.D1755N|OBSCN_ENST00000366709.4_De_novo_Start_OutOfFrame			Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF						apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CTGGCTCAAGGATGGTGTGGA	0.647													8	9					0	0	1	0	0	A	228461596	G	A	228461596	1	1	303	1	0	0	0	0	0	0	0	0	10860	1174	41	2		2	OBSCN	1	228461596	Translation_Start_Site	SNP	G	TCGA-HT-8110-01A-11D-2395-08	2209537	228461596	20789025	4	29128											
HEATR1	55127	broad.mit.edu	37	1	236744701	236744701	+	Missense_Mutation	SNP	T	T	A			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr1:236744701T>A	ENST00000366582.3	-	20	2690	c.2576A>T	c.(2575-2577)gAt>gTt	p.D859V	HEATR1_ENST00000366581.2_Missense_Mutation_p.D859V	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	859					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			CTGAAAAACATCTTCTAGATG	0.328													9	39					0	0	1	0	0	A	236744701	T	A	236744701	3	1	303	1	0	0	0	0	1	0	0	0	7068	1435	50	4	3962	4	HEATR1	1	236744701	Missense_Mutation	SNP	T	TCGA-HT-8110-01A-11D-2395-08	8283105	236744701	12505920	5	29129											
SRBD1	55133	broad.mit.edu	37	2	45620175	45620175	+	Silent	SNP	C	C	T			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr2:45620175C>T	ENST00000263736.4	-	20	2669	c.2607G>A	c.(2605-2607)gaG>gaA	p.E869E	SRBD1_ENST00000535761.1_Silent_p.E388E|SRBD1_ENST00000490133.1_5'UTR	NM_018079.4	NP_060549.4	Q8N5C6	SRBD1_HUMAN	S1 RNA binding domain 1	869					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		hydrolase activity, acting on ester bonds|RNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(13)|large_intestine(8)|lung(15)|skin(2)|stomach(1)|urinary_tract(1)	49		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)			CTGCAATTTTCTCCATTCCTT	0.403													26	40					0	0	1	0	0	T	45620175	C	T	45620175	2	4	303	1	0	0	0	0	0	0	0	1	15189	912	32	2		2	SRBD1	2	45620175	Silent	SNP	C	TCGA-HT-8110-01A-11D-2395-08		45620175	197579198	6	29130											
PDK1	5163	broad.mit.edu	37	2	173431601	173431601	+	Missense_Mutation	SNP	A	A	T	rs148646668		TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr2:173431601A>T	ENST00000282077.3	+	6	891	c.709A>T	c.(709-711)Agg>Tgg	p.R237W	PDK1_ENST00000544863.1_Missense_Mutation_p.R82W|PDK1_ENST00000392571.2_Missense_Mutation_p.R257W|PDK1_ENST00000410055.1_Missense_Mutation_p.R237W|PDK1_ENST00000543905.1_Missense_Mutation_p.R161W			Q15118	PDK1_HUMAN	pyruvate dehydrogenase kinase, isozyme 1		Histidine kinase.				glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate|small GTPase mediated signal transduction	mitochondrial matrix	ATP binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity			central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)	16			OV - Ovarian serous cystadenocarcinoma(117;0.12)			TGAAAATGCTAGGCGTCTGTG	0.323									Autosomal Dominant Polycystic Kidney Disease				3	16					0	0	1	0	0	T	173431601	A	T	173431601	3	4	303	1	0	0	0	0	1	0	0	0	11722	411	15	5	731	5	PDK1	2	173431601	Missense_Mutation	SNP	A	TCGA-HT-8110-01A-11D-2395-08	127811426	173431601	69767772	7	29131											
TTN	7273	broad.mit.edu	37	2	179443857	179443857	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr2:179443857C>G	ENST00000589042.1	-	320	68124	c.67900G>C	c.(67900-67902)Gga>Cga	p.G22634R	TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G13694R|TTN_ENST00000460472.2_Missense_Mutation_p.G13569R|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|RP11-171I2.2_ENST00000603521.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G20066R|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G13761R|TTN_ENST00000591111.1_Missense_Mutation_p.G20993R|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590932.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	20993	Fibronectin type-III 64.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GAGATAGTTCCTTCCTTGGTG	0.443													11	34					0	0	1	0	0	G	179443857	C	G	179443857	3	3	303	1	0	0	0	0	1	0	0	0	16797	690	24	4	40251	4	TTN	2	179443857	Missense_Mutation	SNP	C	TCGA-HT-8110-01A-11D-2395-08	6012256	179443857	63755516	8	29132											
IMPDH2	3615	broad.mit.edu	37	3	49065256	49065256	+	Missense_Mutation	SNP	A	A	T			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr3:49065256A>T	ENST00000326739.4	-	5	457	c.418T>A	c.(418-420)Tgc>Agc	p.C140S		NM_000884.2	NP_000875.2	P12268	IMDH2_HUMAN	IMP (inosine 5'-monophosphate) dehydrogenase 2	140	CBS 1.				GMP biosynthetic process|purine base metabolic process	cytosol|nucleus	IMP dehydrogenase activity|metal ion binding|nucleotide binding|protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(2)|stomach(1)|urinary_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|NADH(DB00157)	GGGATACCGCAGAAACCATGC	0.542													15	43					0	0	1	0	0	T	49065256	A	T	49065256	3	4	303	1	0	0	0	0	1	0	0	0	7771	188	7	5	1166	5	IMPDH2	3	49065256	Missense_Mutation	SNP	A	TCGA-HT-8110-01A-11D-2395-08		49065256	148957174	9	29133											
FAIM	55179	broad.mit.edu	37	3	138341217	138341217	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr3:138341217G>A	ENST00000338446.4	+	4	1084	c.401G>A	c.(400-402)tGg>tAg	p.W134*	FAIM_ENST00000464668.1_Nonsense_Mutation_p.W100*|FAIM_ENST00000393035.2_Nonsense_Mutation_p.W100*|FAIM_ENST00000393034.2_Nonsense_Mutation_p.W100*|FAIM_ENST00000360570.3_Nonsense_Mutation_p.W122*	NM_001033030.1	NP_001028202.1	Q9NVQ4	FAIM1_HUMAN	Fas apoptotic inhibitory molecule	100					apoptosis	cytoplasm				kidney(1)|upper_aerodigestive_tract(1)	2						ACCAATACTTGGGTATTACAC	0.333													14	24					0	0	1	0	0	A	138341217	G	A	138341217	4	1	303	1	0	0	0	0	0	1	0	0	5406	1357	47	2	459	2	FAIM	3	138341217	Nonsense_Mutation	SNP	G	TCGA-HT-8110-01A-11D-2395-08	89275961	138341217	59681213	10	29134											
SEL1L3	23231	broad.mit.edu	37	4	25835187	25835188	+	Frame_Shift_Del	DEL	TA	TA	-			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr4:25835187_25835188delTA	ENST00000399878.3	-	4	986_987	c.864_865delTA	c.(862-867)tttactfs	p.T289fs	SEL1L3_ENST00000502949.1_Frame_Shift_Del_p.T136fs|SEL1L3_ENST00000264868.5_Frame_Shift_Del_p.T254fs|SEL1L3_ENST00000513364.1_5'UTR	NM_015187.3	NP_056002.2	Q68CR1	SE1L3_HUMAN	sel-1 suppressor of lin-12-like 3 (C. elegans)	289						integral to membrane	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						AATGAAACAGTAAACCTATAAG	0.376													2	4	---	---	---	---						-	25835188	TA	-	25835187	7	5	303	1	0	1	0	1	0	0	0	0	14066	1638	57	0	2617	0	SEL1L3	4	25835187	Frame_Shift_Del	DEL	TA	TCGA-HT-8110-01A-11D-2395-08		25835187	165319089	11	29135											
HHIP	64399	broad.mit.edu	37	4	145636526	145636526	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr4:145636526G>A	ENST00000296575.3	+	10	2277	c.1622G>A	c.(1621-1623)gGg>gAg	p.G541E		NM_022475.2	NP_071920.1	Q96QV1	HHIP_HUMAN	hedgehog interacting protein	541						cytoplasm|extracellular region	catalytic activity|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0185)		GGCACTAGTGGGTCCTGTAGA	0.428													15	33					0	0	1	0	0	A	145636526	G	A	145636526	3	1	303	1	0	0	0	0	1	0	0	0	7133	1232	43	2	1660	2	HHIP	4	145636526	Missense_Mutation	SNP	G	TCGA-HT-8110-01A-11D-2395-08	119801339	145636526	45517750	12	29136											
RNF175	285533	broad.mit.edu	37	4	154636798	154636798	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr4:154636798C>T	ENST00000274068.4	-	6	639	c.263G>A	c.(262-264)cGg>cAg	p.R88Q	RNF175_ENST00000347063.4_Missense_Mutation_p.R216Q			Q8N4F7	RN175_HUMAN	ring finger protein 175	216						integral to membrane	zinc ion binding			breast(1)|endometrium(1)|large_intestine(5)|lung(1)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	13	all_hematologic(180;0.093)	Renal(120;0.118)				TGTAGGCAACCGGCTGACACT	0.502													10	18					0	0	1	0	0	T	154636798	C	T	154636798	3	4	303	1	0	0	0	0	1	0	0	0	13515	652	23	1	351	1	RNF175	4	154636798	Missense_Mutation	SNP	C	TCGA-HT-8110-01A-11D-2395-08	9000272	154636798	36517478	13	29137											
PRDM9	56979	broad.mit.edu	37	5	23522989	23522989	+	Missense_Mutation	SNP	T	T	A			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr5:23522989T>A	ENST00000296682.3	+	8	1059	c.877T>A	c.(877-879)Tgg>Agg	p.W293R		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	293	SET.				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						TGGATACTCCTGGCTGGTAAG	0.493										HNSCC(3;0.000094)			19	48					0	0	1	0	0	A	23522989	T	A	23522989	3	1	303	1	0	0	0	0	1	0	0	0	12515	1580	55	5	903	5	PRDM9	5	23522989	Missense_Mutation	SNP	T	TCGA-HT-8110-01A-11D-2395-08		23522989	157392271	14	29138											
PRICKLE4	29964	broad.mit.edu	37	6	41753227	41753227	+	Silent	SNP	C	C	T			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr6:41753227C>T	ENST00000359201.5	+	5	1120	c.531C>T	c.(529-531)tgC>tgT	p.C177C	PRICKLE4_ENST00000394263.1_Silent_p.C177C|PRICKLE4_ENST00000458694.1_Silent_p.C177C|PRICKLE4_ENST00000394260.1_Silent_p.C137C|PRICKLE4_ENST00000394259.1_Silent_p.C137C			Q2TBC4	PRIC4_HUMAN	prickle homolog 4 (Drosophila)	137	LIM zinc-binding 2.					nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	13	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			AACTCTACTGCGGCCGTCATC	0.622													18	46					0	0	1	0	0	T	41753227	C	T	41753227	2	4	303	1	0	0	0	0	0	0	0	1	12541	776	27	1		1	PRICKLE4	6	41753227	Silent	SNP	C	TCGA-HT-8110-01A-11D-2395-08		41753227	129361840	15	29139											
KIAA1244	57221	broad.mit.edu	37	6	138601169	138601169	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr6:138601169G>A	ENST00000251691.4	+	14	2495	c.2329G>A	c.(2329-2331)Gtg>Atg	p.V777M		NM_020340.4	NP_065073.3	Q5TH69	BIG3_HUMAN	KIAA1244	777	SEC7.				regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		GACCAGCGGCGTGCTGATGGT	0.547													17	26					0	0	1	0	0	A	138601169	G	A	138601169	3	1	303	1	0	0	0	0	1	0	0	0	8259	1145	40	1	2383	1	KIAA1244	6	138601169	Missense_Mutation	SNP	G	TCGA-HT-8110-01A-11D-2395-08	96847942	138601169	32513898	16	29140											
CDCA7L	55536	broad.mit.edu	37	7	21956473	21956473	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr7:21956473C>T	ENST00000406877.3	-	2	343	c.64G>A	c.(64-66)Gat>Aat	p.D22N	CDCA7L_ENST00000465490.1_5'UTR|CDCA7L_ENST00000373934.4_Missense_Mutation_p.D22N|CDCA7L_ENST00000356195.5_5'UTR	NM_018719.4	NP_061189.2	Q96GN5	CDA7L_HUMAN	cell division cycle associated 7-like	22					positive regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	29						TCTTCATCATCACTGGGGGCG	0.463													30	130					0	0	1	0	0	T	21956473	C	T	21956473	3	4	303	1	0	0	0	0	1	0	0	0	3113	826	29	2	1336	2	CDCA7L	7	21956473	Missense_Mutation	SNP	C	TCGA-HT-8110-01A-11D-2395-08		21956473	137182190	17	29141											
EGFR	1956	broad.mit.edu	37	7	55211080	55211080	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr7:55211080G>A	ENST00000275493.2	+	3	500	c.323G>A	c.(322-324)aGa>aAa	p.R108K	EGFR_ENST00000455089.1_Missense_Mutation_p.R108K|EGFR_ENST00000442591.1_Missense_Mutation_p.R108K|EGFR_ENST00000342916.3_Missense_Mutation_p.R108K|EGFR_ENST00000420316.2_Missense_Mutation_p.R108K|EGFR_ENST00000344576.2_Missense_Mutation_p.R108K|EGFR_ENST00000454757.2_Missense_Mutation_p.R55K	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	108					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.R108K(6)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	CAGATCATCAGAGGAAATATG	0.423		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			692	44					0	0	1	0	0	A	55211080	G	A	55211080	3	1	303	1	0	0	0	0	1	0	0	0	4993	942	33	2	333	2	EGFR	7	55211080	Missense_Mutation	SNP	G	TCGA-HT-8110-01A-11D-2395-08	33254607	55211080	103927583	18	29142											
CALN1	83698	broad.mit.edu	37	7	71571179	71571179	+	Silent	SNP	G	G	A	rs139754746		TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr7:71571179G>A	ENST00000395275.2	-	4	733	c.345C>T	c.(343-345)agC>agT	p.S115S	CALN1_ENST00000405452.2_Silent_p.S73S|CALN1_ENST00000412588.1_Silent_p.S115S|CALN1_ENST00000395276.2_Silent_p.S73S|CALN1_ENST00000431984.1_Silent_p.S73S|CALN1_ENST00000329008.5_Silent_p.S73S	NM_031468.3	NP_113656.2	Q9BXU9	CABP8_HUMAN	calneuron 1	73						Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane	calcium ion binding			biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(6)|lung(19)|skin(2)	32		all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161)				GCTCCACCTCGCTTGGCATGT	0.592													10	33					0	0	1	0	0	A	71571179	G	A	71571179	2	1	303	1	0	0	0	0	0	0	0	1	2609	1078	38	1		1	CALN1	7	71571179	Silent	SNP	G	TCGA-HT-8110-01A-11D-2395-08	16360099	71571179	87567484	19	29143											
LEP	3952	broad.mit.edu	37	7	127892092	127892092	+	Silent	SNP	C	C	T			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr7:127892092C>T	ENST00000308868.4	+	2	72	c.21C>T	c.(19-21)tgC>tgT	p.C7C		NM_000230.2	NP_000221.1	P41159	LEP_HUMAN	leptin	7					adult feeding behavior|energy reserve metabolic process|negative regulation of appetite|placenta development|positive regulation of developmental growth	extracellular space				endometrium(1)|large_intestine(2)|lung(5)	8						GAACCCTGTGCGGATTCTTGT	0.488													19	87					0	0	1	0	0	T	127892092	C	T	127892092	2	4	303	1	0	0	0	0	0	0	0	1	8766	776	27	1		1	LEP	7	127892092	Silent	SNP	C	TCGA-HT-8110-01A-11D-2395-08	56320913	127892092	31246571	20	29144											
B4GALT1	2683	broad.mit.edu	37	9	33135343	33135343	+	Silent	SNP	G	G	A			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr9:33135343G>A	ENST00000379731.4	-	2	678	c.492C>T	c.(490-492)ggC>ggT	p.G164G	B4GALT1_ENST00000535206.1_Silent_p.G164G	NM_001497.3	NP_001488.2	P15291	B4GT1_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1	164					oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	basolateral plasma membrane|brush border membrane|desmosome|external side of plasma membrane|extracellular region|glycocalyx|Golgi cisterna membrane|Golgi trans cisterna|integral to membrane	alpha-tubulin binding|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity|beta-tubulin binding|lactose synthase activity|metal ion binding|N-acetyllactosamine synthase activity|protein binding|protein homodimerization activity			endometrium(1)|large_intestine(7)|lung(4)|prostate(1)|skin(1)	14			LUSC - Lung squamous cell carcinoma(29;0.0084)	GBM - Glioblastoma multiforme(74;0.121)	N-Acetyl-D-glucosamine(DB00141)	CATAGCGGCCGCCCATCTTCA	0.557													12	32					0	0	1	0	0	A	33135343	G	A	33135343	2	1	303	1	0	0	0	0	0	0	0	1	1268	1074	38	1		1	B4GALT1	9	33135343	Silent	SNP	G	TCGA-HT-8110-01A-11D-2395-08		33135343	108078088	21	29145											
C5	727	broad.mit.edu	37	9	123812513	123812513	+	Silent	SNP	C	C	T	rs35352264	byFrequency	TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr9:123812513C>T	ENST00000223642.1	-	1	41	c.12G>A	c.(10-12)ttG>ttA	p.L4L		NM_001735.2	NP_001726.2	P01031	CO5_HUMAN	complement component 5	4					activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|G-protein coupled receptor protein signaling pathway|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production	extracellular space|membrane attack complex	chemokine activity|endopeptidase inhibitor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)	AAAGTATTCCCAAAAGGCCCA	0.373													19	44					0	0	1	0	0	T	123812513	C	T	123812513	2	4	303	1	0	0	0	0	0	0	0	1	2295	593	21	2		2	C5	9	123812513	Silent	SNP	C	TCGA-HT-8110-01A-11D-2395-08	90677170	123812513	17400918	22	29146											
RABEPK	10244	broad.mit.edu	37	9	127996226	127996226	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr9:127996226delC	ENST00000373538.3	+	8	1396	c.1086delC	c.(1084-1086)atcfs	p.I362fs	RABEPK_ENST00000394125.4_Frame_Shift_Del_p.I362fs|RABEPK_ENST00000394124.4_3'UTR|RABEPK_ENST00000259460.8_Frame_Shift_Del_p.I311fs	NM_005833.3	NP_005824.2	Q7Z6M1	RABEK_HUMAN	Rab9 effector protein with kelch motifs	362					receptor-mediated endocytosis|vesicle docking involved in exocytosis	endosome membrane|plasma membrane				NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15						AAGGGGAAATCTATGACGATT	0.388													32	90	---	---	---	---						-	127996226	C	-	127996226	7	5	303	1	0	1	0	1	0	0	0	0	13015	903	32	0	1112	0	RABEPK	9	127996226	Frame_Shift_Del	DEL	C	TCGA-HT-8110-01A-11D-2395-08	4183713	127996226	13217205	23	29147											
PTEN	5728	broad.mit.edu	37	10	89624228	89624228	+	Translation_Start_Site	SNP	T	T	A			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr10:89624228T>A	ENST00000371953.3	+	1	1359	c.2T>A	c.(1-3)aTg>aAg	p.M1K		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	1					activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.?(13)|p.M1fs*7(1)|p.M1fs*24(1)|p.M1T(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		CTCCCAGACATGACAGCCATC	0.507		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			11	19					0	0	1	0	0	A	89624228	T	A	89624228	1	1	303	1	0	0	0	0	0	0	0	0	12787	1464	51	4		4	PTEN	10	89624228	Translation_Start_Site	SNP	T	TCGA-HT-8110-01A-11D-2395-08		89624228	45910519	24	29148											
PLCE1	51196	broad.mit.edu	37	10	96053387	96053387	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr10:96053387delT	ENST00000371380.3	+	22	5393	c.5158delT	c.(5158-5160)tctfs	p.S1720fs	PLCE1_ENST00000371385.3_Frame_Shift_Del_p.S1412fs|PLCE1_ENST00000371375.1_Frame_Shift_Del_p.S1412fs|PLCE1_ENST00000260766.3_Frame_Shift_Del_p.S1720fs			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1		Required for activation by RHOA, RHOB, GNA12, GNA13 and G-beta gamma (By similarity).				activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				TAACAAAACATCTGGAAAAAG	0.388													11	25	---	---	---	---						-	96053387	T	-	96053387	7	5	303	1	0	1	0	1	0	0	0	0	12082	1435	50	0	5530	0	PLCE1	10	96053387	Frame_Shift_Del	DEL	T	TCGA-HT-8110-01A-11D-2395-08	6429159	96053387	39481360	25	29149											
IFITM1	8519	broad.mit.edu	37	11	314978	314978	+	Silent	SNP	C	C	T			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr11:314978C>T	ENST00000408968.3	+	2	561	c.243C>T	c.(241-243)acC>acT	p.T81T	IFITM1_ENST00000528780.1_Silent_p.T81T|IFITM1_ENST00000328221.5_Silent_p.T81T	NM_003641.3	NP_003632	P13164	IFM1_HUMAN	interferon induced transmembrane protein 1	81					negative regulation of cell proliferation|regulation of immune response|response to virus|type I interferon-mediated signaling pathway	integral to membrane|plasma membrane	protein binding|receptor signaling protein activity			large_intestine(1)|lung(3)	4		all_cancers(49;2e-09)|all_epithelial(84;3.36e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;8.85e-28)|Epithelial(43;5.52e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122)		ATGCCTCCACCGCCAAGTGCC	0.572													16	51					0	0	1	0	0	T	314978	C	T	314978	2	4	303	1	0	0	0	0	0	0	0	1	7570	639	23	1		1	IFITM1	11	314978	Silent	SNP	C	TCGA-HT-8110-01A-11D-2395-08		314978	134691538	26	29150											
NTN4	59277	broad.mit.edu	37	12	96181099	96181099	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr12:96181099G>A	ENST00000343702.4	-	2	651	c.203C>T	c.(202-204)aCg>aTg	p.T68M	NTN4_ENST00000553059.1_Missense_Mutation_p.T68M|NTN4_ENST00000344911.4_Missense_Mutation_p.T31M|NTN4_ENST00000538383.1_Missense_Mutation_p.T31M	NM_021229.3	NP_067052.2	Q9HB63	NET4_HUMAN	netrin 4	68	Laminin N-terminal.			T -> K (in Ref. 1; AAG30822).	axon guidance	basement membrane|plasma membrane				NS(2)|breast(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						AGTCAGATCCGTGTTCTCACT	0.537													11	39					0	0	1	0	0	A	96181099	G	A	96181099	3	1	303	1	0	0	0	0	1	0	0	0	10750	1145	40	1	1719	1	NTN4	12	96181099	Missense_Mutation	SNP	G	TCGA-HT-8110-01A-11D-2395-08		96181099	37670796	27	29151											
ACADS	35	broad.mit.edu	37	12	121176335	121176335	+	Splice_Site	SNP	G	G	A			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr12:121176335G>A	ENST00000242592.4	+	7	946		c.e7-1		ACADS_ENST00000411593.2_Splice_Site	NM_000017.2	NP_000008.1	P16219	ACADS_HUMAN	acyl-CoA dehydrogenase, C-2 to C-3 short chain							mitochondrial matrix	butyryl-CoA dehydrogenase activity			central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(3)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)	Lung NSC(355;0.163)			NADH(DB00157)	GGTCCCCACAGCAAACCCTGG	0.682													10	34					0	0	1	0	0	A	121176335	G	A	121176335	5	1	303	1	0	0	0	0	0	0	1	0	114	985	34	2	821	2	ACADS	12	121176335	Splice_Site	SNP	G	TCGA-HT-8110-01A-11D-2395-08	24995236	121176335	12675560	28	29152											
F7	2155	broad.mit.edu	37	13	113770051	113770051	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr13:113770051C>T	ENST00000375581.3	+	6	543	c.508C>T	c.(508-510)Cgc>Tgc	p.R170C	F7_ENST00000541084.1_Missense_Mutation_p.R101C|F7_ENST00000346342.3_Missense_Mutation_p.R148C	NM_000131.4	NP_000122.1	P08709	FA7_HUMAN	coagulation factor VII (serum prothrombin conversion accelerator)	170	EGF-like 2.				anti-apoptosis|blood coagulation, extrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of leukocyte chemotaxis|positive regulation of platelet-derived growth factor receptor signaling pathway|positive regulation of positive chemotaxis|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|Golgi lumen|plasma membrane	calcium ion binding|glycoprotein binding|serine-type endopeptidase activity			large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0364)|all_epithelial(44;0.0393)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0737)|Epithelial(84;0.213)|BRCA - Breast invasive adenocarcinoma(86;0.218)		Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Menadione(DB00170)	GGGCACCAAGCGCTCCTGTCG	0.617													8	27					0	0	1	0	0	T	113770051	C	T	113770051	3	4	303	1	0	0	0	0	1	0	0	0	5377	768	27	1	530	1	F7	13	113770051	Missense_Mutation	SNP	C	TCGA-HT-8110-01A-11D-2395-08		113770051	1399827	29	29153											
KCNK10	54207	broad.mit.edu	37	14	88652226	88652226	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr14:88652226G>A	ENST00000340700.5	-	7	1721	c.1270C>T	c.(1270-1272)Cgc>Tgc	p.R424C	KCNK10_ENST00000319231.5_Missense_Mutation_p.R429C|KCNK10_ENST00000312350.5_Missense_Mutation_p.R429C	NM_021161.4	NP_066984.1	P57789	KCNKA_HUMAN	potassium channel, subfamily K, member 10	424					signal transduction	integral to membrane	potassium channel activity|voltage-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						CCCTTCAGGCGCAGGTTGTTG	0.607													19	39					0	0	1	0	0	A	88652226	G	A	88652226	3	1	303	1	0	0	0	0	1	0	0	0	8103	1087	38	1	350	1	KCNK10	14	88652226	Missense_Mutation	SNP	G	TCGA-HT-8110-01A-11D-2395-08		88652226	18697314	30	29154											
TGM7	116179	broad.mit.edu	37	15	43574758	43574758	+	Silent	SNP	G	G	A			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr15:43574758G>A	ENST00000452443.2	-	8	1069	c.1065C>T	c.(1063-1065)aaC>aaT	p.N355N		NM_052955.2	NP_443187.1	Q96PF1	TGM7_HUMAN	transglutaminase 7	355					peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(2)|prostate(4)|skin(1)	39		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.14e-07)	L-Glutamine(DB00130)	CCTGCCACCCGTTGTATCCTG	0.562													3	6					0	0	1	0	0	A	43574758	G	A	43574758	2	1	303	1	0	0	0	0	0	0	0	1	15895	1136	40	1		1	TGM7	15	43574758	Silent	SNP	G	TCGA-HT-8110-01A-11D-2395-08		43574758	58956634	31	29155											
SCAPER	49855	broad.mit.edu	37	15	77064287	77064287	+	Silent	SNP	C	C	T			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr15:77064287C>T	ENST00000538941.2	-	10	1245	c.306G>A	c.(304-306)gtG>gtA	p.V102V	SCAPER_ENST00000563290.1_Silent_p.V348V|SCAPER_ENST00000324767.7_Silent_p.V348V	NM_001145923.1	NP_001139395.1	Q9BY12	SCAPE_HUMAN	S-phase cyclin A-associated protein in the ER	347						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						CCAATGTACTCACTGTGAACT	0.338													7	28					0	0	1	0	0	T	77064287	C	T	77064287	2	4	303	1	0	0	0	0	0	0	0	1	13931	813	29	2		2	SCAPER	15	77064287	Silent	SNP	C	TCGA-HT-8110-01A-11D-2395-08	33489529	77064287	25467105	32	29156											
CREBBP	1387	broad.mit.edu	37	16	3781375	3781375	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr16:3781375G>A	ENST00000262367.5	-	30	5799	c.4990C>T	c.(4990-4992)Cgc>Tgc	p.R1664C	CREBBP_ENST00000382070.3_Missense_Mutation_p.R1626C	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1664	Interaction with TRERF1.		R -> H (in RSTS1; abolishes acetyltransferase activity).		cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding	p.R1664C(1)		NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		AAGGCGTCGCGCCCATCCATG	0.642			"T, N, F, Mis, O"	"MLL, MORF, RUNXBP2"	"ALL, AML, DLBCL, B-NHL "		Rubinstein-Taybi syndrome						6	17					0	0	1	0	0	A	3781375	G	A	3781375	3	1	303	1	0	0	0	0	1	0	0	0	3884	1087	38	1	2346	1	CREBBP	16	3781375	Missense_Mutation	SNP	G	TCGA-HT-8110-01A-11D-2395-08		3781375	86573378	33	29157											
CACNG3	10368	broad.mit.edu	37	16	24373167	24373167	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr16:24373167C>T	ENST00000005284.3	+	4	2133	c.931C>T	c.(931-933)Cgc>Tgc	p.R311C		NM_006539.3	NP_006530.1	O60359	CCG3_HUMAN	calcium channel, voltage-dependent, gamma subunit 3	311					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.R311C(1)		NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2)	40				GBM - Glioblastoma multiforme(48;0.0809)		GGCCAACAGGCGCACCACGCC	0.562													13	41					0	0	1	0	0	T	24373167	C	T	24373167	3	4	303	1	0	0	0	0	1	0	0	0	2576	768	27	1	945	1	CACNG3	16	24373167	Missense_Mutation	SNP	C	TCGA-HT-8110-01A-11D-2395-08	20591792	24373167	65981586	34	29158											
ADCY7	113	broad.mit.edu	37	16	50325794	50325794	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr16:50325794C>T	ENST00000394697.2	+	4	863	c.523C>T	c.(523-525)Cgg>Tgg	p.R175W	ADCY7_ENST00000538642.1_Missense_Mutation_p.R175W|ADCY7_ENST00000564044.1_Intron|ADCY7_ENST00000254235.3_Missense_Mutation_p.R175W|ADCY7_ENST00000537579.1_Missense_Mutation_p.R175W|ADCY7_ENST00000566433.2_Missense_Mutation_p.R175W			P51828	ADCY7_HUMAN	adenylate cyclase 7	175					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to ethanol|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of cAMP biosynthetic process|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	35		all_cancers(37;0.0127)		GBM - Glioblastoma multiforme(240;0.195)	Bromocriptine(DB01200)	ACCCAGTGTCCGGGTGGGGCT	0.652													12	32					0	0	1	0	0	T	50325794	C	T	50325794	3	4	303	1	0	0	0	0	1	0	0	0	298	643	23	1	533	1	ADCY7	16	50325794	Missense_Mutation	SNP	C	TCGA-HT-8110-01A-11D-2395-08	25952627	50325794	40028959	35	29159											
CBFA2T3	863	broad.mit.edu	37	16	88967963	88967963	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr16:88967963G>A	ENST00000268679.4	-	2	649	c.253C>T	c.(253-255)Cct>Tct	p.P85S	CBFA2T3_ENST00000436887.2_Missense_Mutation_p.P85S|CBFA2T3_ENST00000448839.1_Intron|CBFA2T3_ENST00000360302.2_Missense_Mutation_p.P24S|CBFA2T3_ENST00000327483.5_Missense_Mutation_p.P24S	NM_005187.5	NP_005178.4	O75081	MTG16_HUMAN	core-binding factor, runt domain, alpha subunit 2; translocated to, 3	85	Mediates interaction with PDE7A (in isoform 2).|Mediates localization to the nucleus (By similarity).|Pro-rich.|Required for nucleolar targeting (in isoform 1).				cell proliferation|granulocyte differentiation	Golgi membrane|nucleolus|nucleoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17				BRCA - Breast invasive adenocarcinoma(80;0.0275)		GATGCGGCAGGCGGTGGGGGC	0.701			T	RUNX1	AML								16	35					0	0	1	0	0	A	88967963	G	A	88967963	3	1	303	1	0	0	0	0	1	0	0	0	2716	1203	42	2	1752	2	CBFA2T3	16	88967963	Missense_Mutation	SNP	G	TCGA-HT-8110-01A-11D-2395-08	38642169	88967963	1386790	36	29160											
NLRP1	22861	broad.mit.edu	37	17	5462410	5462410	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr17:5462410G>A	ENST00000345221.3	-	4	2160	c.1606C>T	c.(1606-1608)Cgg>Tgg	p.R536W	NLRP1_ENST00000262467.5_Missense_Mutation_p.R536W|NLRP1_ENST00000572272.1_Missense_Mutation_p.R536W|NLRP1_ENST00000269280.4_Missense_Mutation_p.R536W|NLRP1_ENST00000577119.1_Missense_Mutation_p.R536W|NLRP1_ENST00000354411.3_Missense_Mutation_p.R536W|NLRP1_ENST00000571307.1_5'UTR	NM_014922.4|NM_033004.3|NM_033007.3	NP_055737.1|NP_127497.1|NP_127500.1	Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	536	NACHT.				defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	cytoplasm|NALP1 inflammasome complex|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				TTTTCCTTCCGCTTCATCTGC	0.547													28	70					0	0	1	0	0	A	5462410	G	A	5462410	3	1	303	1	0	0	0	0	1	0	0	0	10518	1086	38	1	2946	1	NLRP1	17	5462410	Missense_Mutation	SNP	G	TCGA-HT-8110-01A-11D-2395-08		5462410	75732800	37	29161											
PIK3R5	23533	broad.mit.edu	37	17	8794082	8794082	+	Silent	SNP	G	G	A			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr17:8794082G>A	ENST00000447110.1	-	7	754	c.630C>T	c.(628-630)gaC>gaT	p.D210D	PIK3R5_ENST00000581552.1_Silent_p.D210D|PIK3R5_ENST00000584803.1_Silent_p.D210D	NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1	NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1	Q8WYR1	PI3R5_HUMAN	phosphoinositide-3-kinase, regulatory subunit 5	210					platelet activation	cytosol|membrane|nucleus				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						GGCCCGGGACGTCACAGTGGG	0.632													3	13					0	0	1	0	0	A	8794082	G	A	8794082	2	1	303	1	0	0	0	0	0	0	0	1	11970	1136	40	1		1	PIK3R5	17	8794082	Silent	SNP	G	TCGA-HT-8110-01A-11D-2395-08	3331672	8794082	72401128	38	29162											
GSDMB	55876	broad.mit.edu	37	17	38073447	38073447	+	Silent	SNP	C	C	T			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr17:38073447C>T	ENST00000394175.2	-	1	346	c.123G>A	c.(121-123)ggG>ggA	p.G41G	GSDMB_ENST00000394179.1_Silent_p.G41G|GSDMB_ENST00000520542.1_Silent_p.G41G|GSDMB_ENST00000360317.3_Silent_p.G41G|GSDMB_ENST00000309481.7_Silent_p.G41G|GSDMB_ENST00000418519.1_Silent_p.G41G	NM_018530.2	NP_061000.2	Q8TAX9	GSDMB_HUMAN	gasdermin B	41						cytoplasm				breast(2)|endometrium(3)|large_intestine(6)|lung(6)|pancreas(1)|prostate(1)|stomach(2)	21						TTCTCTTCTCCCCCACCAGAT	0.483													31	83					0	0	1	0	0	T	38073447	C	T	38073447	2	4	303	1	0	0	0	0	0	0	0	1	6858	610	22	2		2	GSDMB	17	38073447	Silent	SNP	C	TCGA-HT-8110-01A-11D-2395-08	29279365	38073447	43121763	39	29163											
SHD	56961	broad.mit.edu	37	19	4284902	4284902	+	Splice_Site	SNP	G	G	A			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr19:4284902G>A	ENST00000543264.2	+	4	2179		c.e4+1		SHD_ENST00000599689.1_Splice_Site|SHD_ENST00000600475.1_Splice_Site	NM_020209.3	NP_064594.3	Q96IW2	SHD_HUMAN	Src homology 2 domain containing transforming protein D											breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|stomach(1)	14				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0337)|STAD - Stomach adenocarcinoma(1328;0.18)		AGAAACAGCCGTGAGTGGGGA	0.587													23	43					0	0	1	0	0	A	4284902	G	A	4284902	5	1	303	1	0	0	0	0	0	0	1	0	14330	1159	40	1	731	1	SHD	19	4284902	Splice_Site	SNP	G	TCGA-HT-8110-01A-11D-2395-08		4284902	54844081	40	29164											
SPATA2	9825	broad.mit.edu	37	20	48522793	48522793	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr20:48522793G>A	ENST00000422556.1	-	3	1275	c.926C>T	c.(925-927)cCg>cTg	p.P309L	SPATA2_ENST00000289431.5_Missense_Mutation_p.P309L|SPATA2_ENST00000543716.1_Missense_Mutation_p.P172L	NM_001135773.1	NP_001129245.1	Q9UM82	SPAT2_HUMAN	spermatogenesis associated 2	309					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm|nucleus				central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	20	Hepatocellular(150;0.133)		BRCA - Breast invasive adenocarcinoma(9;4.03e-06)			AAGCACATCCGGGCTGCCGTG	0.637													30	65					0	0	1	0	0	A	48522793	G	A	48522793	3	1	303	1	0	0	0	0	1	0	0	0	15061	1116	39	1	640	1	SPATA2	20	48522793	Missense_Mutation	SNP	G	TCGA-HT-8110-01A-11D-2395-08		48522793	14502727	41	29165											
CBLN4	140689	broad.mit.edu	37	20	54579018	54579018	+	Silent	SNP	C	C	T			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr20:54579018C>T	ENST00000064571.2	-	1	1510	c.210G>A	c.(208-210)aaG>aaA	p.K70K		NM_080617.5	NP_542184.1	Q9NTU7	CBLN4_HUMAN	cerebellin 4 precursor	70	C1q.					cell junction|extracellular region|synapse				endometrium(2)|large_intestine(1)|lung(10)|ovary(3)|pancreas(1)	17			Colorectal(105;0.202)			AGAAGGCGACCTTGGAGTTGG	0.637													36	104					0	0	1	0	0	T	54579018	C	T	54579018	2	4	303	1	0	0	0	0	0	0	0	1	2725	680	24	2		2	CBLN4	20	54579018	Silent	SNP	C	TCGA-HT-8110-01A-11D-2395-08	6056225	54579018	8446502	42	29166											
LAMA5	3911	broad.mit.edu	37	20	60895628	60895628	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr20:60895628C>T	ENST00000252999.3	-	50	6812	c.6746G>A	c.(6745-6747)cGg>cAg	p.R2249Q		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	2249	Domain II and I.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GCCGCCTAGCCGCCGTGCGTC	0.687													4	6					0	0	1	0	0	T	60895628	C	T	60895628	3	4	303	1	0	0	0	0	1	0	0	0	8648	652	23	1	4465	1	LAMA5	20	60895628	Missense_Mutation	SNP	C	TCGA-HT-8110-01A-11D-2395-08	6316610	60895628	2129892	43	29167											
TRPM2	7226	broad.mit.edu	37	21	45817649	45817649	+	Missense_Mutation	SNP	C	C	T	rs149619816	byFrequency	TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr21:45817649C>T	ENST00000397928.1	+	13	2397	c.1952C>T	c.(1951-1953)gCg>gTg	p.A651V	TRPM2_ENST00000300481.9_Missense_Mutation_p.A631V|TRPM2_ENST00000397932.2_Missense_Mutation_p.A651V|TRPM2_ENST00000300482.5_Missense_Mutation_p.A651V|TRPM2_ENST00000498430.1_3'UTR	NM_003307.3	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	651						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						TGCATCGCAGCGGCCTTGGCC	0.622													7	17					0	0	1	0	0	T	45817649	C	T	45817649	3	4	303	1	0	0	0	0	1	0	0	0	16647	768	27	1	2002	1	TRPM2	21	45817649	Missense_Mutation	SNP	C	TCGA-HT-8110-01A-11D-2395-08		45817649	2312246	44	29168											
P2RX6	9127	broad.mit.edu	37	22	21380124	21380124	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr22:21380124delT	ENST00000413302.2	+	9	1069	c.921delT	c.(919-921)ggtfs	p.G307fs	P2RX6_ENST00000402329.3_3'UTR|P2RX6_ENST00000443995.3_Frame_Shift_Del_p.G254fs|P2RX6_ENST00000336296.2_Frame_Shift_Del_p.G297fs|P2RX6_ENST00000401443.1_Frame_Shift_Del_p.G281fs			O15547	P2RX6_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 6	307					muscle contraction|protein homooligomerization	cell junction|cytoplasm|integral to plasma membrane	ATP binding|extracellular ATP-gated cation channel activity|identical protein binding|purinergic nucleotide receptor activity										AGCAACCGGGTGTGGAGGCCC	0.657													2	4	---	---	---	---						-	21380124	T	-	21380124	7	5	303	1	0	1	0	1	0	0	0	0	11391	1683	59	0	955	0	P2RX6	22	21380124	Frame_Shift_Del	DEL	T	TCGA-HT-8110-01A-11D-2395-08		21380124	29924442	45	29169											
PCDH11X	27328	broad.mit.edu	37	X	91133712	91133712	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chrX:91133712G>A	ENST00000373094.1	+	2	3318	c.2473G>A	c.(2473-2475)Gtt>Att	p.V825I	PCDH11X_ENST00000395337.2_Missense_Mutation_p.V825I|PCDH11X_ENST00000373097.1_Missense_Mutation_p.V825I|PCDH11X_ENST00000298274.8_Missense_Mutation_p.V825I|PCDH11X_ENST00000504220.2_Missense_Mutation_p.V825I|PCDH11X_ENST00000406881.1_Missense_Mutation_p.V825I|PCDH11X_ENST00000361655.2_Missense_Mutation_p.V825I|PCDH11X_ENST00000373088.1_Missense_Mutation_p.V825I|PCDH11X_ENST00000361724.1_Missense_Mutation_p.V825I	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	825					homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						CATAACTGTCGTTGTAGTTAT	0.463													21	13					0	0	1	0	0	A	91133712	G	A	91133712	3	1	303	1	0	0	0	0	1	0	0	0	11555	1145	40	1	2479	1	PCDH11X	23	91133712	Missense_Mutation	SNP	G	TCGA-HT-8110-01A-11D-2395-08		91133712	64136848	46	29170											
IL22RA1	58985	broad.mit.edu	37	1	24460805	24460805	+	Missense_Mutation	SNP	G	G	C			TCGA-HT-8111-01A-11D-2395-08	TCGA-HT-8111-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dba9345-2d78-4d00-9509-c30b2e197e07	dbc20e74-6c64-49a3-ad8a-461ce0c26b71	g.chr1:24460805G>C	ENST00000270800.1	-	4	465	c.427C>G	c.(427-429)Ccc>Gcc	p.P143A		NM_021258.3	NP_067081.2	Q8N6P7	I22R1_HUMAN	interleukin 22 receptor, alpha 1	143	Fibronectin type-III 2.					integral to membrane	interferon receptor activity			breast(2)|endometrium(2)|large_intestine(4)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000992)|all_lung(284;0.00138)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-24)|Colorectal(126;6.43e-08)|COAD - Colon adenocarcinoma(152;3.51e-06)|GBM - Glioblastoma multiforme(114;5.06e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00911)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.148)		ATTGGCGTGGGGGTAGGATGA	0.522													12	48					0	0	1	0	0	C	24460805	G	C	24460805	3	2	304	1	0	0	0	0	1	0	0	0	7717	1232	43	5	1313	5	IL22RA1	1	24460805	Missense_Mutation	SNP	G	TCGA-HT-8111-01A-11D-2395-08		24460805	224789816	1	29171											
SPAG17	200162	broad.mit.edu	37	1	118554864	118554874	+	Frame_Shift_Del	DEL	ATCTGGCAGAA	ATCTGGCAGAA	-			TCGA-HT-8111-01A-11D-2395-08	TCGA-HT-8111-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dba9345-2d78-4d00-9509-c30b2e197e07	dbc20e74-6c64-49a3-ad8a-461ce0c26b71	g.chr1:118554864_118554874delATCTGGCAGAA	ENST00000336338.5	-	30	4474_4484	c.4409_4419delTTCTGCCAGAT	c.(4408-4419)attctgccagatfs	p.ILPD1470fs		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1470						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		TTTCTTGATCATCTGGCAGAATAATTTGATC	0.336													7	40	---	---	---	---						-	118554874	ATCTGGCAGAA	-	118554864	7	5	304	1	0	1	0	1	0	0	0	0	15035	214	8	0	2328	0	SPAG17	1	118554864	Frame_Shift_Del	DEL	ATCTGGCAGAA	TCGA-HT-8111-01A-11D-2395-08	94094059	118554864	130695757	2	29172											
ZNF281	23528	broad.mit.edu	37	1	200378559	200378559	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HT-8111-01A-11D-2395-08	TCGA-HT-8111-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dba9345-2d78-4d00-9509-c30b2e197e07	dbc20e74-6c64-49a3-ad8a-461ce0c26b71	g.chr1:200378559delG	ENST00000294740.3	-	2	399	c.275delC	c.(274-276)cctfs	p.P94fs	ZNF281_ENST00000367353.1_Frame_Shift_Del_p.P94fs|ZNF281_ENST00000367352.3_Frame_Shift_Del_p.P58fs	NM_001281293.1|NM_001281294.1|NM_012482.4	NP_001268222.1|NP_001268223.1|NP_036614.1	Q9Y2X9	ZN281_HUMAN	zinc finger protein 281		Poly-Pro.				negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	p.P93fs*34(1)		breast(4)|endometrium(3)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	27						GGCTGGCGGAGGGGGGGGCTC	0.706													2	4	---	---	---	---						-	200378559	G	-	200378559	7	5	304	1	0	1	0	1	0	0	0	0	17876	1000	35	0	2416	0	ZNF281	1	200378559	Frame_Shift_Del	DEL	G	TCGA-HT-8111-01A-11D-2395-08	81823695	200378559	48872062	3	29173											
NEB	4703	broad.mit.edu	37	2	152534214	152534214	+	Silent	SNP	G	G	A	rs74320183	by1000genomes	TCGA-HT-8111-01A-11D-2395-08	TCGA-HT-8111-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dba9345-2d78-4d00-9509-c30b2e197e07	dbc20e74-6c64-49a3-ad8a-461ce0c26b71	g.chr2:152534214G>A	ENST00000397345.3	-	34	3841	c.3639C>T	c.(3637-3639)gtC>gtT	p.V1213V	NEB_ENST00000172853.10_Silent_p.V1213V|NEB_ENST00000604864.1_Silent_p.V1213V|NEB_ENST00000409198.1_Silent_p.V1213V|NEB_ENST00000427231.2_Silent_p.V1213V|NEB_ENST00000603639.1_Silent_p.V1213V	NM_001164508.1	NP_001157980	P20929	NEBU_HUMAN	nebulin	1213					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TAACTTTTTCGACGTCGAGAC	0.458													26	208					0	0	1	0	0	A	152534214	G	A	152534214	2	1	304	1	0	0	0	0	0	0	0	1	10349	1045	37	1		1	NEB	2	152534214	Silent	SNP	G	TCGA-HT-8111-01A-11D-2395-08		152534214	90665159	4	29174											
SCN3A	6328	broad.mit.edu	37	2	166012411	166012411	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-8111-01A-11D-2395-08	TCGA-HT-8111-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dba9345-2d78-4d00-9509-c30b2e197e07	dbc20e74-6c64-49a3-ad8a-461ce0c26b71	g.chr2:166012411T>C	ENST00000360093.3	-	10	1525	c.1034A>G	c.(1033-1035)cAg>cGg	p.Q345R	SCN3A_ENST00000409101.3_Missense_Mutation_p.Q345R|SCN3A_ENST00000283254.7_Missense_Mutation_p.Q345R	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	345						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	TTCTGGACACTGGCTATAAGA	0.408													6	82					0	0	1	0	0	C	166012411	T	C	166012411	3	2	304	1	0	0	0	0	1	0	0	0	13972	1580	55	3	5044	3	SCN3A	2	166012411	Missense_Mutation	SNP	T	TCGA-HT-8111-01A-11D-2395-08	13478197	166012411	77186962	5	29175											
SSFA2	6744	broad.mit.edu	37	2	182780777	182780777	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-8111-01A-11D-2395-08	TCGA-HT-8111-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dba9345-2d78-4d00-9509-c30b2e197e07	dbc20e74-6c64-49a3-ad8a-461ce0c26b71	g.chr2:182780777C>G	ENST00000431877.2	+	11	2589	c.2410C>G	c.(2410-2412)Cca>Gca	p.P804A	SSFA2_ENST00000409136.1_Missense_Mutation_p.P313A|SSFA2_ENST00000320370.7_Missense_Mutation_p.P804A|SSFA2_ENST00000428267.2_Missense_Mutation_p.P651A|SSFA2_ENST00000409001.1_Missense_Mutation_p.P804A	NM_001130445.1	NP_001123917.1	P28290	SSFA2_HUMAN	sperm specific antigen 2	804						cytoplasm|plasma membrane	actin binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(18)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	38			OV - Ovarian serous cystadenocarcinoma(117;0.0856)			TTTCATCTCTCCATCATCTGT	0.502													3	56					0	0	1	0	0	G	182780777	C	G	182780777	3	3	304	1	0	0	0	0	1	0	0	0	15239	855	30	5	2452	5	SSFA2	2	182780777	Missense_Mutation	SNP	C	TCGA-HT-8111-01A-11D-2395-08	16768366	182780777	60418596	6	29176											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-HT-8111-01A-11D-2395-08	TCGA-HT-8111-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dba9345-2d78-4d00-9509-c30b2e197e07	dbc20e74-6c64-49a3-ad8a-461ce0c26b71	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								19	30					0	0	1	0	0	T	209113112	C	T	209113112	3	4	304	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HT-8111-01A-11D-2395-08	26332335	209113112	34086261	7	29177											
KIAA1109	84162	broad.mit.edu	37	4	123107220	123107220	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-8111-01A-11D-2395-08	TCGA-HT-8111-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dba9345-2d78-4d00-9509-c30b2e197e07	dbc20e74-6c64-49a3-ad8a-461ce0c26b71	g.chr4:123107220A>G	ENST00000264501.4	+	7	761	c.388A>G	c.(388-390)Aca>Gca	p.T130A	KIAA1109_ENST00000388738.3_Missense_Mutation_p.T130A|KIAA1109_ENST00000455637.1_Missense_Mutation_p.T130A			Q2LD37	K1109_HUMAN	KIAA1109	130					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						GTTATACATCACAGTCAATGA	0.333													16	56					0	0	1	0	0	G	123107220	A	G	123107220	3	3	304	1	0	0	0	0	1	0	0	0	8250	159	6	3	406	3	KIAA1109	4	123107220	Missense_Mutation	SNP	A	TCGA-HT-8111-01A-11D-2395-08		123107220	68047056	8	29178											
ADAD1	132612	broad.mit.edu	37	4	123336539	123336539	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8111-01A-11D-2395-08	TCGA-HT-8111-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dba9345-2d78-4d00-9509-c30b2e197e07	dbc20e74-6c64-49a3-ad8a-461ce0c26b71	g.chr4:123336539G>A	ENST00000296513.2	+	11	1440	c.1255G>A	c.(1255-1257)Ggg>Agg	p.G419R	ADAD1_ENST00000388725.2_Missense_Mutation_p.G401R|ADAD1_ENST00000388724.2_Missense_Mutation_p.G408R	NM_139243.3	NP_640336.1	Q96M93	ADAD1_HUMAN	adenosine deaminase domain containing 1 (testis-specific)	419	A to I editase.				multicellular organismal development|RNA processing	nucleus	adenosine deaminase activity|double-stranded RNA binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	35						TCTAGGTGATGGGAATTGCAG	0.348													9	59					0	0	1	0	0	A	123336539	G	A	123336539	3	1	304	1	0	0	0	0	1	0	0	0	230	1348	47	2	1289	2	ADAD1	4	123336539	Missense_Mutation	SNP	G	TCGA-HT-8111-01A-11D-2395-08	229319	123336539	67817737	9	29179											
ETFDH	2110	broad.mit.edu	37	4	159603573	159603573	+	Silent	SNP	G	G	A			TCGA-HT-8111-01A-11D-2395-08	TCGA-HT-8111-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dba9345-2d78-4d00-9509-c30b2e197e07	dbc20e74-6c64-49a3-ad8a-461ce0c26b71	g.chr4:159603573G>A	ENST00000511912.1	+	3	734	c.402G>A	c.(400-402)aaG>aaA	p.K134K	ETFDH_ENST00000307738.5_Silent_p.K87K	NM_001281738.1|NM_004453.2	NP_001268667.1|NP_004444.2	Q16134	ETFD_HUMAN	electron-transferring-flavoprotein dehydrogenase	134					fatty acid beta-oxidation using acyl-CoA dehydrogenase|respiratory electron transport chain|response to oxidative stress|transport	integral to mitochondrial inner membrane|mitochondrial matrix	4 iron, 4 sulfur cluster binding|electron carrier activity|electron-transferring-flavoprotein dehydrogenase activity|flavin adenine dinucleotide binding|metal ion binding|oxidoreductase activity, oxidizing metal ions with flavin as acceptor|ubiquinone binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|prostate(1)|skin(3)	28	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0172)		GGAAAGAGAAGGGGGTATGAA	0.388													21	55					0	0	1	0	0	A	159603573	G	A	159603573	2	1	304	1	0	0	0	0	0	0	0	1	5299	991	35	2		2	ETFDH	4	159603573	Silent	SNP	G	TCGA-HT-8111-01A-11D-2395-08	36267034	159603573	31550703	10	29180											
HTR1E	3354	broad.mit.edu	37	6	87725488	87725488	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8111-01A-11D-2395-08	TCGA-HT-8111-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dba9345-2d78-4d00-9509-c30b2e197e07	dbc20e74-6c64-49a3-ad8a-461ce0c26b71	g.chr6:87725488G>A	ENST00000305344.5	+	2	1139	c.436G>A	c.(436-438)Gtc>Atc	p.V146I		NM_000865.2	NP_000856.1	P28566	5HT1E_HUMAN	5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled						G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	protein binding|serotonin binding|serotonin receptor activity	p.V146I(2)		breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)		BRCA - Breast invasive adenocarcinoma(108;0.055)	Eletriptan(DB00216)	GATCCTTACCGTCTGGACCAT	0.582													8	124					0	0	1	0	0	A	87725488	G	A	87725488	3	1	304	1	0	0	0	0	1	0	0	0	7483	1145	40	1	438	1	HTR1E	6	87725488	Missense_Mutation	SNP	G	TCGA-HT-8111-01A-11D-2395-08		87725488	83389579	11	29181											
MOXD1	26002	broad.mit.edu	37	6	132722520	132722520	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HT-8111-01A-11D-2395-08	TCGA-HT-8111-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dba9345-2d78-4d00-9509-c30b2e197e07	dbc20e74-6c64-49a3-ad8a-461ce0c26b71	g.chr6:132722520delT	ENST00000367963.3	-	1	164	c.46delA	c.(46-48)acgfs	p.T16fs	MOXD1_ENST00000392401.3_Frame_Shift_Del_p.T16fs	NM_015529.2	NP_056344.2	Q6UVY6	MOXD1_HUMAN	monooxygenase, DBH-like 1	16					catecholamine metabolic process	endoplasmic reticulum membrane|integral to membrane	copper ion binding|dopamine beta-monooxygenase activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(3)|skin(1)	37	Breast(56;0.0495)			OV - Ovarian serous cystadenocarcinoma(155;0.0132)|GBM - Glioblastoma multiforme(226;0.0191)		CCCGCCGCCGTCCCGGGGAGC	0.746													2	4	---	---	---	---						-	132722520	T	-	132722520	7	5	304	1	0	1	0	1	0	0	0	0	9769	1667	58	0	1843	0	MOXD1	6	132722520	Frame_Shift_Del	DEL	T	TCGA-HT-8111-01A-11D-2395-08	44997032	132722520	38392547	12	29182											
TRPA1	8989	broad.mit.edu	37	8	72969169	72969169	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HT-8111-01A-11D-2395-08	TCGA-HT-8111-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dba9345-2d78-4d00-9509-c30b2e197e07	dbc20e74-6c64-49a3-ad8a-461ce0c26b71	g.chr8:72969169G>A	ENST00000262209.4	-	10	1384	c.1177C>T	c.(1177-1179)Cga>Tga	p.R393*		NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	393						integral to plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	AATTCAGGTCGCAGATTTTTT	0.294													7	10					0	0	1	0	0	A	72969169	G	A	72969169	4	1	304	1	0	0	0	0	0	1	0	0	16638	1095	38	1	2254	1	TRPA1	8	72969169	Nonsense_Mutation	SNP	G	TCGA-HT-8111-01A-11D-2395-08		72969169	73394853	13	29183											
WNK2	65268	broad.mit.edu	37	9	96051424	96051424	+	Missense_Mutation	SNP	C	C	A			TCGA-HT-8111-01A-11D-2395-08	TCGA-HT-8111-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dba9345-2d78-4d00-9509-c30b2e197e07	dbc20e74-6c64-49a3-ad8a-461ce0c26b71	g.chr9:96051424C>A	ENST00000297954.4	+	20	4499	c.4499C>A	c.(4498-4500)gCc>gAc	p.A1500D	WNK2_ENST00000349097.3_Missense_Mutation_p.A1112D|WNK2_ENST00000356055.3_5'UTR|WNK2_ENST00000427277.2_Missense_Mutation_p.A1075D|WNK2_ENST00000395477.2_Missense_Mutation_p.A1463D|WNK2_ENST00000395475.2_3'UTR	NM_001282394.1	NP_001269323.1	Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	1500					intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						CCAGAGGCTGCCTCAACCAGG	0.687													3	31					0.115264	0.115264	1	1	0	A	96051424	C	A	96051424	3	1	304	1	0	0	0	0	1	0	0	0	17438	739	26	5	4462	5	WNK2	9	96051424	Missense_Mutation	SNP	C	TCGA-HT-8111-01A-11D-2395-08		96051424	45162007	14	29184											
MTPAP	55149	broad.mit.edu	37	10	30653858	30653858	+	Silent	SNP	A	A	C			TCGA-HT-8111-01A-11D-2395-08	TCGA-HT-8111-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dba9345-2d78-4d00-9509-c30b2e197e07	dbc20e74-6c64-49a3-ad8a-461ce0c26b71	g.chr10:30653858A>C	ENST00000358107.4	-	2	323	c.324T>G	c.(322-324)ggT>ggG	p.G108G	MTPAP_ENST00000488290.1_5'UTR			Q9NVV4	PAPD1_HUMAN	mitochondrial poly(A) polymerase	0					cell death|histone mRNA catabolic process|mRNA polyadenylation|transcription, DNA-dependent	mitochondrion	ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|protein homodimerization activity|RNA binding|UTP binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						cacccaccccacccccacccc	0.642													5	13					0	0	1	0	0	C	30653858	A	C	30653858	2	2	304	1	0	0	0	0	0	0	0	1	10004	174	6	5		5	MTPAP	10	30653858	Silent	SNP	A	TCGA-HT-8111-01A-11D-2395-08		30653858	104880889	15	29185											
CALHM2	51063	broad.mit.edu	37	10	105209278	105209278	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8111-01A-11D-2395-08	TCGA-HT-8111-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dba9345-2d78-4d00-9509-c30b2e197e07	dbc20e74-6c64-49a3-ad8a-461ce0c26b71	g.chr10:105209278G>A	ENST00000393235.1	-	3	1618	c.421C>T	c.(421-423)Ctc>Ttc	p.L141F	CALHM2_ENST00000369788.3_Missense_Mutation_p.L141F|CALHM2_ENST00000260743.5_Missense_Mutation_p.L141F			Q9HA72	CAHM2_HUMAN	calcium homeostasis modulator 2	141						integral to membrane				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)|skin(1)	11						CTGGCCGTGAGTGAGGAAGGG	0.607													30	108					0	0	1	0	0	A	105209278	G	A	105209278	3	1	304	1	0	0	0	0	1	0	0	0	2601	1029	36	2	558	2	CALHM2	10	105209278	Missense_Mutation	SNP	G	TCGA-HT-8111-01A-11D-2395-08	74555420	105209278	30325469	16	29186											
ART1	417	broad.mit.edu	37	11	3681544	3681544	+	Silent	SNP	C	C	T			TCGA-HT-8111-01A-11D-2395-08	TCGA-HT-8111-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dba9345-2d78-4d00-9509-c30b2e197e07	dbc20e74-6c64-49a3-ad8a-461ce0c26b71	g.chr11:3681544C>T	ENST00000250693.1	+	3	896	c.795C>T	c.(793-795)taC>taT	p.Y265Y		NM_004314.2	NP_004305.2	P52961	NAR1_HUMAN	ADP-ribosyltransferase 1	265					protein ADP-ribosylation	anchored to membrane|integral to plasma membrane|sarcoplasmic reticulum membrane	NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity			endometrium(1)|large_intestine(2)|liver(1)|lung(3)|skin(1)	8		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0351)|LUSC - Lung squamous cell carcinoma(625;0.195)	Becaplermin(DB00102)	CCCGCATCTACCTCCGAGCCC	0.607													7	86					0	0	1	0	0	T	3681544	C	T	3681544	2	4	304	1	0	0	0	0	0	0	0	1	996	518	18	2		2	ART1	11	3681544	Silent	SNP	C	TCGA-HT-8111-01A-11D-2395-08		3681544	131324972	17	29187											
SPON1	10418	broad.mit.edu	37	11	14284600	14284601	+	RNA	DEL	AA	AA	-	rs79477301		TCGA-HT-8111-01A-11D-2395-08	TCGA-HT-8111-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dba9345-2d78-4d00-9509-c30b2e197e07	dbc20e74-6c64-49a3-ad8a-461ce0c26b71	g.chr11:14284600_14284601delAA	ENST00000310358.7	+	0	2795				RP11-21L19.1_ENST00000534587.1_RNA			Q9HCB6	SPON1_HUMAN	spondin 1, extracellular matrix protein						cell adhesion	extracellular space|proteinaceous extracellular matrix	protein binding			NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	21				Epithelial(150;0.00898)		GGACCTGTTTaaaaaaaaaaaa	0.465													3	5	---	---	---	---						-	14284601	AA	-	14284600	6	5	304	0	1	1	0	1	0	0	0	0	15138	377	13	0		0	SPON1	11	14284600	RNA	DEL	AA	TCGA-HT-8111-01A-11D-2395-08	10603056	14284600	120721916	18	29188											
KLHL28	54813	broad.mit.edu	37	14	45400708	45400708	+	Missense_Mutation	SNP	C	C	A			TCGA-HT-8111-01A-11D-2395-08	TCGA-HT-8111-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dba9345-2d78-4d00-9509-c30b2e197e07	dbc20e74-6c64-49a3-ad8a-461ce0c26b71	g.chr14:45400708C>A	ENST00000396128.4	-	4	1499	c.1380G>T	c.(1378-1380)gaG>gaT	p.E460D	KLHL28_ENST00000355081.2_Missense_Mutation_p.E474D	NM_017658.3	NP_060128.2	Q9NXS3	KLH28_HUMAN	kelch-like family member 28	460										breast(2)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						ATGCAACCATCTCCCAGGAGT	0.393													3	39					6.4e-05	6.78788e-05	1	1	0	A	45400708	C	A	45400708	3	1	304	1	0	0	0	0	1	0	0	0	8425	912	32	4	343	4	KLHL28	14	45400708	Missense_Mutation	SNP	C	TCGA-HT-8111-01A-11D-2395-08		45400708	61948832	19	29189											
TP53	7157	broad.mit.edu	37	17	7578449	7578449	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8111-01A-11D-2395-08	TCGA-HT-8111-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dba9345-2d78-4d00-9509-c30b2e197e07	dbc20e74-6c64-49a3-ad8a-461ce0c26b71	g.chr17:7578449C>T	ENST00000420246.2	-	5	613	c.481G>A	c.(481-483)Gcc>Acc	p.A161T	TP53_ENST00000269305.4_Missense_Mutation_p.A161T|TP53_ENST00000413465.2_Missense_Mutation_p.A161T|TP53_ENST00000359597.4_Missense_Mutation_p.A161T|TP53_ENST00000445888.2_Missense_Mutation_p.A161T|TP53_ENST00000455263.2_Missense_Mutation_p.A161T	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.0?(8)|p.A68T(3)|p.A29T(3)|p.A161fs*9(3)|p.R156_I162delRVRAMAI(2)|p.M160fs*10(2)|p.V157_C176del20(1)|p.A161fs*19(1)|p.R156_A161delRVRAMA(1)|p.P151_V173del23(1)|p.R156fs*18(1)|p.A161fs*10(1)|p.R156_A161del(1)|p.V157fs*9(1)|p.A161fs*20(1)|p.M160_A161>IS(1)|p.A161fs*8(1)|p.S149fs*72(1)|p.A161fs*7(1)|p.T155_A161delTRVRAMA(1)|p.R156fs*20(1)|p.A161S(1)|p.A161P(1)|p.V157_I162delVRAMAI(1)|p.A161F(1)|p.A159_Q167delAMAIYKQSQ(1)|p.R158fs*8(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)		TTGTAGATGGCCATGGCGCGG	0.632		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)			54	37					0	0	1	0	0	T	7578449	C	T	7578449	3	4	304	1	0	0	0	0	1	0	0	0	16442	739	26	2	817	2	TP53	17	7578449	Missense_Mutation	SNP	C	TCGA-HT-8111-01A-11D-2395-08		7578449	73616761	20	29190											
TRIOBP	11078	broad.mit.edu	37	22	38120965	38120965	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-8111-01A-11D-2395-08	TCGA-HT-8111-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dba9345-2d78-4d00-9509-c30b2e197e07	dbc20e74-6c64-49a3-ad8a-461ce0c26b71	g.chr22:38120965T>C	ENST00000406386.3	+	7	2657	c.2402T>C	c.(2401-2403)cTc>cCc	p.L801P		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	801					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho 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)					CGGGACAATCTCAGAGCCTCC	0.537													4	119					0	0	1	0	0	C	38120965	T	C	38120965	3	2	304	1	0	0	0	0	1	0	0	0	16614	1551	54	3	2420	3	TRIOBP	22	38120965	Missense_Mutation	SNP	T	TCGA-HT-8111-01A-11D-2395-08		38120965	13183601	21	29191											
AURKAIP1	54998	broad.mit.edu	37	1	1309600	1309600	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8113-01A-11D-2395-08	TCGA-HT-8113-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e19353f-7e6b-4f4c-bcf4-6cfa746e6f2d	fcc61745-3e32-4bb2-843c-73edb053d9cf	g.chr1:1309600C>T	ENST00000338370.3	-	2	678	c.278G>A	c.(277-279)gGg>gAg	p.G93E	AURKAIP1_ENST00000378853.3_Missense_Mutation_p.G93E|AURKAIP1_ENST00000321751.5_Missense_Mutation_p.G93E|AURKAIP1_ENST00000338338.5_Missense_Mutation_p.G93E			Q9NWT8	AKIP_HUMAN	aurora kinase A interacting protein 1	93					negative regulation of mitosis|positive regulation of proteolysis	mitochondrion|nucleus	protein binding			kidney(1)|lung(2)	3	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;5.82e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		AGCCACAGTCCCTGCGGTCCC	0.657													6	66					0	0	1	0	0	T	1309600	C	T	1309600	3	4	305	1	0	0	0	0	1	0	0	0	1220	623	22	2	329	2	AURKAIP1	1	1309600	Missense_Mutation	SNP	C	TCGA-HT-8113-01A-11D-2395-08		1309600	247941021	1	29192											
NRXN1	9378	broad.mit.edu	37	2	50723230	50723230	+	Nonsense_Mutation	SNP	G	G	C			TCGA-HT-8113-01A-11D-2395-08	TCGA-HT-8113-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e19353f-7e6b-4f4c-bcf4-6cfa746e6f2d	fcc61745-3e32-4bb2-843c-73edb053d9cf	g.chr2:50723230G>C	ENST00000404971.1	-	16	4342	c.3003C>G	c.(3001-3003)taC>taG	p.Y1001*	NRXN1_ENST00000401669.2_Nonsense_Mutation_p.Y961*|NRXN1_ENST00000406859.3_Nonsense_Mutation_p.Y961*|NRXN1_ENST00000406316.2_Nonsense_Mutation_p.Y961*|NRXN1_ENST00000402717.3_Nonsense_Mutation_p.Y953*|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000405472.3_Nonsense_Mutation_p.Y953*	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	961	Laminin G-like 5.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			CGTAATGTAAGTACCTGGGAA	0.353													4	11					0	0	1	0	0	C	50723230	G	C	50723230	4	2	305	1	0	0	0	0	0	1	0	0	10713	1024	36	4	1939	4	NRXN1	2	50723230	Nonsense_Mutation	SNP	G	TCGA-HT-8113-01A-11D-2395-08		50723230	192476143	2	29193											
MRPS5	64969	broad.mit.edu	37	2	95773974	95773974	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8113-01A-11D-2395-08	TCGA-HT-8113-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e19353f-7e6b-4f4c-bcf4-6cfa746e6f2d	fcc61745-3e32-4bb2-843c-73edb053d9cf	g.chr2:95773974C>T	ENST00000272418.2	-	5	791	c.583G>A	c.(583-585)Gga>Aga	p.G195R		NM_031902.3	NP_114108.1	P82675	RT05_HUMAN	mitochondrial ribosomal protein S5	195					translation	mitochondrion|ribosome	protein binding|RNA binding|structural constituent of ribosome			central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20						CATGAGTTTCCACTCCATCCT	0.532													14	89					0	0	1	0	0	T	95773974	C	T	95773974	3	4	305	1	0	0	0	0	1	0	0	0	9895	603	21	2	741	2	MRPS5	2	95773974	Missense_Mutation	SNP	C	TCGA-HT-8113-01A-11D-2395-08	45050744	95773974	147425399	3	29194											
SDPR	8436	broad.mit.edu	37	2	192700918	192700918	+	Missense_Mutation	SNP	G	G	A	rs115736105	byFrequency	TCGA-HT-8113-01A-11D-2395-08	TCGA-HT-8113-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e19353f-7e6b-4f4c-bcf4-6cfa746e6f2d	fcc61745-3e32-4bb2-843c-73edb053d9cf	g.chr2:192700918G>A	ENST00000304141.4	-	2	1338	c.1009C>T	c.(1009-1011)Cat>Tat	p.H337Y		NM_004657.5	NP_004648.1	O95810	SDPR_HUMAN	serum deprivation response	337						caveola|cytosol	phosphatidylserine binding|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3)	23			OV - Ovarian serous cystadenocarcinoma(117;0.0647)		Phosphatidylserine(DB00144)	GCTTCGGAATGACCCTCTGCA	0.567													7	146					0	0	1	0	0	A	192700918	G	A	192700918	3	1	305	1	0	0	0	0	1	0	0	0	14024	1290	45	2	272	2	SDPR	2	192700918	Missense_Mutation	SNP	G	TCGA-HT-8113-01A-11D-2395-08	96926944	192700918	50498455	4	29195											
ESYT3	83850	broad.mit.edu	37	3	138191379	138191379	+	Missense_Mutation	SNP	G	G	C	rs72976634	by1000genomes	TCGA-HT-8113-01A-11D-2395-08	TCGA-HT-8113-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e19353f-7e6b-4f4c-bcf4-6cfa746e6f2d	fcc61745-3e32-4bb2-843c-73edb053d9cf	g.chr3:138191379G>C	ENST00000389567.4	+	18	2101	c.1915G>C	c.(1915-1917)Gac>Cac	p.D639H		NM_031913.3	NP_114119.2	A0FGR9	ESYT3_HUMAN	extended synaptotagmin-like protein 3	639						integral to membrane|plasma membrane				breast(1)|endometrium(5)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	25						TGATACTAAGGACGTATCCAG	0.557													6	139					0	0	1	0	0	C	138191379	G	C	138191379	3	2	305	1	0	0	0	0	1	0	0	0	5294	1174	41	5	1985	5	ESYT3	3	138191379	Missense_Mutation	SNP	G	TCGA-HT-8113-01A-11D-2395-08		138191379	59831051	5	29196											
GYG1	2992	broad.mit.edu	37	3	148744693	148744693	+	Missense_Mutation	SNP	G	G	C			TCGA-HT-8113-01A-11D-2395-08	TCGA-HT-8113-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e19353f-7e6b-4f4c-bcf4-6cfa746e6f2d	fcc61745-3e32-4bb2-843c-73edb053d9cf	g.chr3:148744693G>C	ENST00000345003.4	+	8	1326	c.1026G>C	c.(1024-1026)aaG>aaC	p.K342N	GYG1_ENST00000296048.6_Missense_Mutation_p.K325N|GYG1_ENST00000484197.1_Missense_Mutation_p.R252T|GYG1_ENST00000479119.1_3'UTR	NM_004130.3	NP_004121.2	P46976	GLYG_HUMAN	glycogenin 1	342					glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	glycogenin glucosyltransferase activity|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|lung(3)|ovary(1)	8			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			ACAACATCAAGAGGAAACTTG	0.458													8	99					0	0	1	0	0	C	148744693	G	C	148744693	3	2	305	1	0	0	0	0	1	0	0	0	6946	942	33	4	1056	4	GYG1	3	148744693	Missense_Mutation	SNP	G	TCGA-HT-8113-01A-11D-2395-08	10553314	148744693	49277737	6	29197											
TLR6	10333	broad.mit.edu	37	4	38829218	38829218	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8113-01A-11D-2395-08	TCGA-HT-8113-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e19353f-7e6b-4f4c-bcf4-6cfa746e6f2d	fcc61745-3e32-4bb2-843c-73edb053d9cf	g.chr4:38829218C>T	ENST00000436693.2	-	2	1996	c.1877G>A	c.(1876-1878)cGc>cAc	p.R626H	TLR6_ENST00000381950.1_Missense_Mutation_p.R626H	NM_006068.4	NP_006059.2	Q9Y2C9	TLR6_HUMAN	toll-like receptor 6	626					activation of NF-kappaB-inducing kinase activity|cellular response to diacyl bacterial lipopeptide|defense response to bacterium|detection of diacyl bacterial lipopeptide|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-6 biosynthetic process|positive regulation of JUN kinase activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	integral to plasma membrane|phagocytic vesicle membrane	lipopeptide binding|transmembrane receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CCTGGCCCTGCGCCGAGTCTG	0.502													21	106					0	0	1	0	0	T	38829218	C	T	38829218	3	4	305	1	0	0	0	0	1	0	0	0	16015	768	27	1	517	1	TLR6	4	38829218	Missense_Mutation	SNP	C	TCGA-HT-8113-01A-11D-2395-08		38829218	152325058	7	29198											
N4BP2	55728	broad.mit.edu	37	4	40104251	40104252	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HT-8113-01A-11D-2395-08	TCGA-HT-8113-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e19353f-7e6b-4f4c-bcf4-6cfa746e6f2d	fcc61745-3e32-4bb2-843c-73edb053d9cf	g.chr4:40104251_40104252insA	ENST00000261435.6	+	4	1202_1203	c.786_787insA	c.(787-789)aatfs	p.N263fs		NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN	NEDD4 binding protein 2	263						cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding			breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						GTAGCAGTCTCAATCAAAAACA	0.411													12	51	---	---	---	---						A	40104252	-	A	40104251	7	5	305	1	0	1	1	0	0	0	0	0	10158	813	29	0	792	0	N4BP2	4	40104251	Frame_Shift_Ins	INS	-	TCGA-HT-8113-01A-11D-2395-08	1275033	40104251	151050025	8	29199											
PCDHA10	56139	broad.mit.edu	37	5	140237337	140237337	+	Silent	SNP	C	C	G	rs7725388	by1000genomes	TCGA-HT-8113-01A-11D-2395-08	TCGA-HT-8113-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e19353f-7e6b-4f4c-bcf4-6cfa746e6f2d	fcc61745-3e32-4bb2-843c-73edb053d9cf	g.chr5:140237337C>G	ENST00000307360.5	+	1	1704	c.1704C>G	c.(1702-1704)ccC>ccG	p.P568P	PCDHA4_ENST00000530339.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Intron	NM_018901.2	NP_061724.1														NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGCGTCTCCCGCTGGCAGCG	0.692													4	66					0	0	1	0	0	G	140237337	C	G	140237337	2	3	305	1	0	0	0	0	0	0	0	1	11567	639	23	5		5	PCDHA10	5	140237337	Silent	SNP	C	TCGA-HT-8113-01A-11D-2395-08		140237337	40677923	9	29200											
MLLT4	4301	broad.mit.edu	37	6	168352193	168352193	+	Missense_Mutation	SNP	G	G	A	rs78299900	byFrequency	TCGA-HT-8113-01A-11D-2395-08	TCGA-HT-8113-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e19353f-7e6b-4f4c-bcf4-6cfa746e6f2d	fcc61745-3e32-4bb2-843c-73edb053d9cf	g.chr6:168352193G>A	ENST00000366806.2	+	30	4280	c.4138G>A	c.(4138-4140)Gat>Aat	p.D1380N	MLLT4_ENST00000344191.4_Missense_Mutation_p.D1380N|MLLT4_ENST00000447894.2_Missense_Mutation_p.D1380N|MLLT4_ENST00000392108.3_Missense_Mutation_p.D1380N|MLLT4_ENST00000392112.1_Missense_Mutation_p.D1363N|MLLT4_ENST00000351017.4_Missense_Mutation_p.D1387N|MLLT4_ENST00000400822.3_Missense_Mutation_p.D1379N			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	1380	Pro-rich.				adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		CGGTGATTTCGATGGAATGTC	0.627			T	MLL	AL								6	134					0	0	1	0	0	A	168352193	G	A	168352193	3	1	305	1	0	0	0	0	1	0	0	0	9677	1058	37	1	4252	1	MLLT4	6	168352193	Missense_Mutation	SNP	G	TCGA-HT-8113-01A-11D-2395-08		168352193	2762874	10	29201											
HERPUD2	64224	broad.mit.edu	37	7	35707097	35707097	+	Silent	SNP	T	T	C			TCGA-HT-8113-01A-11D-2395-08	TCGA-HT-8113-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e19353f-7e6b-4f4c-bcf4-6cfa746e6f2d	fcc61745-3e32-4bb2-843c-73edb053d9cf	g.chr7:35707097T>C	ENST00000396081.1	-	4	1245	c.441A>G	c.(439-441)ccA>ccG	p.P147P	HERPUD2_ENST00000311350.3_Silent_p.P147P|HERPUD2_ENST00000426180.1_5'UTR	NM_022373.4	NP_071768.3	Q9BSE4	HERP2_HUMAN	HERPUD family member 2	147					response to unfolded protein	integral to membrane				kidney(3)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)	18						TTTGTGCTTGTGGAAGGGTAC	0.458													28	110					0	0	1	0	0	C	35707097	T	C	35707097	2	2	305	1	0	0	0	0	0	0	0	1	7105	1683	59	3		3	HERPUD2	7	35707097	Silent	SNP	T	TCGA-HT-8113-01A-11D-2395-08		35707097	123431566	11	29202											
PTCD1	26024	broad.mit.edu	37	7	99032678	99032678	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8113-01A-11D-2395-08	TCGA-HT-8113-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e19353f-7e6b-4f4c-bcf4-6cfa746e6f2d	fcc61745-3e32-4bb2-843c-73edb053d9cf	g.chr7:99032678G>A	ENST00000292478.4	-	2	438	c.188C>T	c.(187-189)aCg>aTg	p.T63M	PTCD1_ENST00000555673.1_Missense_Mutation_p.T112M|ATP5J2-PTCD1_ENST00000413834.1_Missense_Mutation_p.T112M|ATP5J2-PTCD1_ENST00000437572.1_5'UTR	NM_015545.3	NP_056360.2			pentatricopeptide repeat domain 1											endometrium(5)|large_intestine(3)|lung(16)|ovary(2)|skin(1)	27	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)			CAGGCTGCCCGTGTTTTCCTG	0.642													5	63					0	0	1	0	0	A	99032678	G	A	99032678	3	1	305	1	0	0	0	0	1	0	0	0	12776	1145	40	1	1942	1	PTCD1	7	99032678	Missense_Mutation	SNP	G	TCGA-HT-8113-01A-11D-2395-08	63325581	99032678	60105985	12	29203											
QSOX2	169714	broad.mit.edu	37	9	139118662	139118662	+	Silent	SNP	G	G	A			TCGA-HT-8113-01A-11D-2395-08	TCGA-HT-8113-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e19353f-7e6b-4f4c-bcf4-6cfa746e6f2d	fcc61745-3e32-4bb2-843c-73edb053d9cf	g.chr9:139118662G>A	ENST00000358701.5	-	2	424	c.387C>T	c.(385-387)gcC>gcT	p.A129A		NM_181701.3	NP_859052.3	Q6ZRP7	QSOX2_HUMAN	quiescin Q6 sulfhydryl oxidase 2	129	Thioredoxin.				cell redox homeostasis	extracellular region|integral to membrane|nuclear membrane|plasma membrane	thiol oxidase activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)	22		Myeloproliferative disorder(178;0.0511)		Epithelial(140;7.78e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.55e-07)		CATGGCACACGGCCTGGTTCT	0.562											OREG0019616	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	161					0	0	1	0	0	A	139118662	G	A	139118662	2	1	305	1	0	0	0	0	0	0	0	1	12936	1103	39	1		1	QSOX2	9	139118662	Silent	SNP	G	TCGA-HT-8113-01A-11D-2395-08		139118662	2094769	13	29204											
KIAA1462	57608	broad.mit.edu	37	10	30318651	30318651	+	Silent	SNP	G	G	A			TCGA-HT-8113-01A-11D-2395-08	TCGA-HT-8113-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e19353f-7e6b-4f4c-bcf4-6cfa746e6f2d	fcc61745-3e32-4bb2-843c-73edb053d9cf	g.chr10:30318651G>A	ENST00000375377.1	-	3	527	c.426C>T	c.(424-426)gcC>gcT	p.A142A		NM_020848.2	NP_065899.1	Q9P266	K1462_HUMAN	KIAA1462	142										breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						GCAGGCTGTGGGCTTGGGCCA	0.572													34	227					0	0	1	0	0	A	30318651	G	A	30318651	2	1	305	1	0	0	0	0	0	0	0	1	8276	1219	43	2		2	KIAA1462	10	30318651	Silent	SNP	G	TCGA-HT-8113-01A-11D-2395-08		30318651	105216096	14	29205											
NRAP	4892	broad.mit.edu	37	10	115380379	115380379	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8113-01A-11D-2395-08	TCGA-HT-8113-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e19353f-7e6b-4f4c-bcf4-6cfa746e6f2d	fcc61745-3e32-4bb2-843c-73edb053d9cf	g.chr10:115380379C>T	ENST00000369358.4	-	25	3126	c.2882G>A	c.(2881-2883)gGa>gAa	p.G961E	NRAP_ENST00000369360.3_Missense_Mutation_p.G926E|NRAP_ENST00000359988.3_Missense_Mutation_p.G953E|NRAP_ENST00000360478.3_Missense_Mutation_p.G918E			Q86VF7	NRAP_HUMAN	nebulin-related anchoring protein	953						fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		AATGAGTTCTCCTGCCTTCTT	0.498													8	102					0	0	1	0	0	T	115380379	C	T	115380379	3	4	305	1	0	0	0	0	1	0	0	0	10686	855	30	2	2406	2	NRAP	10	115380379	Missense_Mutation	SNP	C	TCGA-HT-8113-01A-11D-2395-08	85061728	115380379	20154368	15	29206											
EIF3A	8661	broad.mit.edu	37	10	120802275	120802275	+	Missense_Mutation	SNP	T	T	G			TCGA-HT-8113-01A-11D-2395-08	TCGA-HT-8113-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e19353f-7e6b-4f4c-bcf4-6cfa746e6f2d	fcc61745-3e32-4bb2-843c-73edb053d9cf	g.chr10:120802275T>G	ENST00000369144.3	-	19	2884	c.2757A>C	c.(2755-2757)agA>agC	p.R919S	EIF3A_ENST00000541549.1_Missense_Mutation_p.R885S	NM_003750.2	NP_003741.1	Q14152	EIF3A_HUMAN	eukaryotic translation initiation factor 3, subunit A	919					formation of translation initiation complex	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|structural molecule activity|translation initiation factor activity			endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3)	56		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0236)		CTTCTCCACGTCTCCACTCCC	0.423													9	144					0	0	1	0	0	G	120802275	T	G	120802275	3	3	305	1	0	0	0	0	1	0	0	0	5038	1664	58	5	1407	5	EIF3A	10	120802275	Missense_Mutation	SNP	T	TCGA-HT-8113-01A-11D-2395-08	5421896	120802275	14732472	16	29207											
ART5	116969	broad.mit.edu	37	11	3660100	3660100	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HT-8113-01A-11D-2395-08	TCGA-HT-8113-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e19353f-7e6b-4f4c-bcf4-6cfa746e6f2d	fcc61745-3e32-4bb2-843c-73edb053d9cf	g.chr11:3660100C>T	ENST00000397067.3	-	4	795	c.666G>A	c.(664-666)tgG>tgA	p.W222*	ART5_ENST00000359918.4_Intron|ART5_ENST00000397068.3_Intron			Q96L15	NAR5_HUMAN	ADP-ribosyltransferase 5	219						extracellular region	NAD(P)+-protein-arginine ADP-ribosyltransferase activity			breast(1)|central_nervous_system(1)|large_intestine(2)|lung(6)|ovary(1)	11		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0336)|LUSC - Lung squamous cell carcinoma(625;0.19)		GCAGAGTCTTCCAGGGGGGCA	0.612													3	25					0	0	1	0	0	T	3660100	C	T	3660100	4	4	305	1	0	0	0	0	0	1	0	0	999	870	30	2		2	ART5	11	3660100	Nonsense_Mutation	SNP	C	TCGA-HT-8113-01A-11D-2395-08		3660100	131346416	17	29208											
OR5M11	219487	broad.mit.edu	37	11	56310625	56310625	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8113-01A-11D-2395-08	TCGA-HT-8113-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e19353f-7e6b-4f4c-bcf4-6cfa746e6f2d	fcc61745-3e32-4bb2-843c-73edb053d9cf	g.chr11:56310625C>T	ENST00000528616.2	-	1	132	c.109G>A	c.(109-111)Gtc>Atc	p.V37I		NM_001005245.1	NP_001005245.1	Q96RB7	OR5MB_HUMAN	olfactory receptor, family 5, subfamily M, member 11	37					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)	18						AGCAGGGTGACGAGGTAAACA	0.473													5	103					0	0	1	0	0	T	56310625	C	T	56310625	3	4	305	1	0	0	0	0	1	0	0	0	11221	536	19	1	811	1	OR5M11	11	56310625	Missense_Mutation	SNP	C	TCGA-HT-8113-01A-11D-2395-08	52650525	56310625	78695891	18	29209											
ZFPL1	7542	broad.mit.edu	37	11	64855417	64855417	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8113-01A-11D-2395-08	TCGA-HT-8113-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e19353f-7e6b-4f4c-bcf4-6cfa746e6f2d	fcc61745-3e32-4bb2-843c-73edb053d9cf	g.chr11:64855417G>A	ENST00000294258.3	+	8	916	c.764G>A	c.(763-765)cGg>cAg	p.R255Q		NM_006782.3	NP_006773.2	O95159	ZFPL1_HUMAN	zinc finger protein-like 1	255					regulation of transcription, DNA-dependent|vesicle-mediated transport	Golgi apparatus|integral to membrane|nucleus	DNA binding|zinc ion binding			breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	11						GCTGGGTCTCGGAAGCGGCCG	0.697													12	73					0	0	1	0	0	A	64855417	G	A	64855417	3	1	305	1	0	0	0	0	1	0	0	0	17714	1116	39	1	790	1	ZFPL1	11	64855417	Missense_Mutation	SNP	G	TCGA-HT-8113-01A-11D-2395-08	8544792	64855417	70151099	19	29210											
SORL1	6653	broad.mit.edu	37	11	121358800	121358800	+	Silent	SNP	T	T	A			TCGA-HT-8113-01A-11D-2395-08	TCGA-HT-8113-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e19353f-7e6b-4f4c-bcf4-6cfa746e6f2d	fcc61745-3e32-4bb2-843c-73edb053d9cf	g.chr11:121358800T>A	ENST00000260197.7	+	4	717	c.588T>A	c.(586-588)acT>acA	p.T196T	SORL1_ENST00000532451.1_3'UTR	NM_003105.5	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	196					cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		TCTGCAACACTCTTCAAGGCT	0.517													64	275					0	0	1	0	0	A	121358800	T	A	121358800	2	1	305	1	0	0	0	0	0	0	0	1	14988	1538	54	5		5	SORL1	11	121358800	Silent	SNP	T	TCGA-HT-8113-01A-11D-2395-08	56503383	121358800	13647716	20	29211											
ACACB	32	broad.mit.edu	37	12	109690903	109690903	+	Silent	SNP	C	C	T			TCGA-HT-8113-01A-11D-2395-08	TCGA-HT-8113-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e19353f-7e6b-4f4c-bcf4-6cfa746e6f2d	fcc61745-3e32-4bb2-843c-73edb053d9cf	g.chr12:109690903C>T	ENST00000338432.7	+	43	6104	c.5985C>T	c.(5983-5985)acC>acT	p.T1995T	ACACB_ENST00000543201.1_Silent_p.T661T|ACACB_ENST00000377848.3_Silent_p.T1995T|ACACB_ENST00000377854.5_Silent_p.T1925T			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	1995	Carboxyltransferase.				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	CCCACATCACCGTGCCAGATG	0.512													33	241					0	0	1	0	0	T	109690903	C	T	109690903	2	4	305	1	0	0	0	0	0	0	0	1	107	639	23	1		1	ACACB	12	109690903	Silent	SNP	C	TCGA-HT-8113-01A-11D-2395-08		109690903	24160992	21	29212											
LATS2	26524	broad.mit.edu	37	13	21557659	21557659	+	Missense_Mutation	SNP	A	A	T			TCGA-HT-8113-01A-11D-2395-08	TCGA-HT-8113-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e19353f-7e6b-4f4c-bcf4-6cfa746e6f2d	fcc61745-3e32-4bb2-843c-73edb053d9cf	g.chr13:21557659A>T	ENST00000382592.4	-	5	2591	c.2186T>A	c.(2185-2187)gTc>gAc	p.V729D	LATS2_ENST00000542899.1_Missense_Mutation_p.V729D	NM_014572.2	NP_055387.2	Q9NRM7	LATS2_HUMAN	large tumor suppressor kinase 2	729	Protein kinase.				cell division|G1/S transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|intracellular protein kinase cascade|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity	microtubule organizing center|nucleus|spindle pole	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2)	45		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)		GTAGAGTTTGACCACCCACTC	0.537													13	172					0	0	1	0	0	T	21557659	A	T	21557659	3	4	305	1	0	0	0	0	1	0	0	0	8686	275	10	5	1096	5	LATS2	13	21557659	Missense_Mutation	SNP	A	TCGA-HT-8113-01A-11D-2395-08		21557659	93612219	22	29213											
IDH2	3418	broad.mit.edu	37	15	90631838	90631838	+	Missense_Mutation	SNP	C	C	T	rs121913503		TCGA-HT-8113-01A-11D-2395-08	TCGA-HT-8113-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e19353f-7e6b-4f4c-bcf4-6cfa746e6f2d	fcc61745-3e32-4bb2-843c-73edb053d9cf	g.chr15:90631838C>T	ENST00000330062.3	-	4	628	c.515G>A	c.(514-516)aGg>aAg	p.R172K	IDH2_ENST00000540499.2_Missense_Mutation_p.R120K|IDH2_ENST00000539790.1_Missense_Mutation_p.R42K|IDH2_ENST00000559482.1_Intron	NM_002168.2	NP_002159.2	P48735	IDHP_HUMAN	isocitrate dehydrogenase 2 (NADP+), mitochondrial	172					2-oxoglutarate metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding	p.R172K(116)|p.R172M(21)|p.R172N(1)		biliary_tract(11)|bone(19)|central_nervous_system(107)|endometrium(1)|haematopoietic_and_lymphoid_tissue(953)|large_intestine(8)|lung(5)|skin(5)	1109	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.106)			ATGGGCGTGCCTGCCAATGGT	0.632			M		GBM								15	66					0	0	1	0	0	T	90631838	C	T	90631838	3	4	305	1	0	0	0	0	1	0	0	0	7539	681	24	2	875	2	IDH2	15	90631838	Missense_Mutation	SNP	C	TCGA-HT-8113-01A-11D-2395-08		90631838	11899554	23	29214											
C16orf62	57020	broad.mit.edu	37	16	19580757	19580757	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HT-8113-01A-11D-2395-08	TCGA-HT-8113-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e19353f-7e6b-4f4c-bcf4-6cfa746e6f2d	fcc61745-3e32-4bb2-843c-73edb053d9cf	g.chr16:19580757delA	ENST00000438132.3	+	3	444	c.396delA	c.(394-396)tcafs	p.S132fs	C16orf62_ENST00000251143.5_Frame_Shift_Del_p.S43fs|C16orf62_ENST00000417362.2_Frame_Shift_Del_p.S43fs|C16orf62_ENST00000542263.1_Frame_Shift_Del_p.S132fs|C16orf62_ENST00000538853.1_Frame_Shift_Del_p.S132fs	NM_020314.5	NP_064710.4	Q7Z3J2	CP062_HUMAN	chromosome 16 open reading frame 62	43						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	36						TCACAGAGTCAAAGACAAAGA	0.527													8	50	---	---	---	---						-	19580757	A	-	19580757	7	5	305	1	0	1	0	1	0	0	0	0	1832	117	5	0	139	0	C16orf62	16	19580757	Frame_Shift_Del	DEL	A	TCGA-HT-8113-01A-11D-2395-08		19580757	70773996	24	29215											
ARMC5	79798	broad.mit.edu	37	16	31470908	31470908	+	Silent	SNP	G	G	A			TCGA-HT-8113-01A-11D-2395-08	TCGA-HT-8113-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e19353f-7e6b-4f4c-bcf4-6cfa746e6f2d	fcc61745-3e32-4bb2-843c-73edb053d9cf	g.chr16:31470908G>A	ENST00000457010.2	+	1	764	c.63G>A	c.(61-63)gcG>gcA	p.A21A	ARMC5_ENST00000268314.4_Silent_p.A21A|RP11-452L6.5_ENST00000564629.1_RNA|ARMC5_ENST00000408912.3_Silent_p.A116A|ARMC5_ENST00000563544.1_Silent_p.A21A|ARMC5_ENST00000538189.1_Silent_p.A53A	NM_024742.2	NP_079018.1	Q96C12	ARMC5_HUMAN	armadillo repeat containing 5	21							binding			central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						AGCTCGCGGCGGCGGCCGGGG	0.711													3	16					0	0	1	0	0	A	31470908	G	A	31470908	2	1	305	1	0	0	0	0	0	0	0	1	953	1103	39	1		1	ARMC5	16	31470908	Silent	SNP	G	TCGA-HT-8113-01A-11D-2395-08	11890151	31470908	58883845	25	29216											
TAF1C	9013	broad.mit.edu	37	16	84213255	84213255	+	Silent	SNP	G	G	A	rs145273391		TCGA-HT-8113-01A-11D-2395-08	TCGA-HT-8113-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e19353f-7e6b-4f4c-bcf4-6cfa746e6f2d	fcc61745-3e32-4bb2-843c-73edb053d9cf	g.chr16:84213255G>A	ENST00000567759.1	-	14	2084	c.1902C>T	c.(1900-1902)gcC>gcT	p.A634A	TAF1C_ENST00000566732.1_Silent_p.A608A|TAF1C_ENST00000378541.4_Silent_p.A634A|TAF1C_ENST00000341690.6_Silent_p.A540A|TAF1C_ENST00000541676.1_Silent_p.A541A|TAF1C_ENST00000570117.1_Silent_p.A302A	NM_005679.3	NP_005670	Q15572	TAF1C_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kDa	634					regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding			endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	26						GGCTGCAGCCGGCAGTGTCCT	0.662													4	37					0	0	1	0	0	A	84213255	G	A	84213255	2	1	305	1	0	0	0	0	0	0	0	1	15578	1103	39	1		1	TAF1C	16	84213255	Silent	SNP	G	TCGA-HT-8113-01A-11D-2395-08	52742347	84213255	6141498	26	29217											
MRPS7	51081	broad.mit.edu	37	17	73258504	73258504	+	Missense_Mutation	SNP	T	T	C	rs116366134	by1000genomes	TCGA-HT-8113-01A-11D-2395-08	TCGA-HT-8113-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e19353f-7e6b-4f4c-bcf4-6cfa746e6f2d	fcc61745-3e32-4bb2-843c-73edb053d9cf	g.chr17:73258504T>C	ENST00000579002.1	+	1	512	c.97T>C	c.(97-99)Tgc>Cgc	p.C33R	MRPS7_ENST00000579761.1_Intron|MRPS7_ENST00000245539.6_Intron			Q9Y2R9	RT07_HUMAN	mitochondrial ribosomal protein S7	0					translation	cytosolic small ribosomal subunit|mitochondrion	protein binding|RNA binding|structural constituent of ribosome			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)	6	all_cancers(13;1.25e-07)|all_epithelial(9;2.63e-08)|Breast(9;1.06e-07)		all cancers(21;3.02e-07)|Epithelial(20;2.92e-06)			TTGGCAGTCATGCCTATTGTT	0.587													6	132					0	0	1	0	0	C	73258504	T	C	73258504	3	2	305	1	0	0	0	0	1	0	0	0	9897	1479	51	3		3	MRPS7	17	73258504	Missense_Mutation	SNP	T	TCGA-HT-8113-01A-11D-2395-08		73258504	7936706	27	29218											
ZNF177	7730	broad.mit.edu	37	19	9492389	9492389	+	Missense_Mutation	SNP	T	T	G			TCGA-HT-8113-01A-11D-2395-08	TCGA-HT-8113-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e19353f-7e6b-4f4c-bcf4-6cfa746e6f2d	fcc61745-3e32-4bb2-843c-73edb053d9cf	g.chr19:9492389T>G	ENST00000541595.2	+	12	1531	c.902T>G	c.(901-903)tTt>tGt	p.F301C	ZNF177_ENST00000602738.1_Missense_Mutation_p.F301C|ZNF177_ENST00000589262.1_Missense_Mutation_p.F461C|ZNF177_ENST00000434737.2_Missense_Mutation_p.F461C|ZNF177_ENST00000446085.4_3'UTR|ZNF177_ENST00000590616.1_Intron|ZNF177_ENST00000343499.4_Missense_Mutation_p.F301C|ZNF177_ENST00000602856.1_3'UTR	NM_001172650.2	NP_001166121.1	Q13360	ZN177_HUMAN	zinc finger protein 177	301					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|stomach(2)	13						GAAAAAGCCTTTAGCACAAGC	0.448													32	151					0	0	1	0	0	G	9492389	T	G	9492389	3	3	305	1	0	0	0	0	1	0	0	0	17804	1841	64	5	1400	5	ZNF177	19	9492389	Missense_Mutation	SNP	T	TCGA-HT-8113-01A-11D-2395-08		9492389	49636594	28	29219											
KCNK6	9424	broad.mit.edu	37	19	38817239	38817239	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8113-01A-11D-2395-08	TCGA-HT-8113-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e19353f-7e6b-4f4c-bcf4-6cfa746e6f2d	fcc61745-3e32-4bb2-843c-73edb053d9cf	g.chr19:38817239G>A	ENST00000263372.3	+	2	436	c.329G>A	c.(328-330)gGg>gAg	p.G110E		NM_004823.1	NP_004814.1	Q9Y257	KCNK6_HUMAN	potassium channel, subfamily K, member 6	110						voltage-gated potassium channel complex	inward rectifier potassium channel activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)	17	all_cancers(60;5.83e-07)		Lung(45;0.00047)|LUSC - Lung squamous cell carcinoma(53;0.000613)		Ibutilide(DB00308)|Quinidine(DB00908)	CTAGGCTATGGGTACACAACG	0.572													8	134					0	0	1	0	0	A	38817239	G	A	38817239	3	1	305	1	0	0	0	0	1	0	0	0	8114	1232	43	2	335	2	KCNK6	19	38817239	Missense_Mutation	SNP	G	TCGA-HT-8113-01A-11D-2395-08	29324850	38817239	20311744	29	29220											
C19orf48	84798	broad.mit.edu	37	19	51301519	51301519	+	Missense_Mutation	SNP	G	G	C	rs144495841	byFrequency	TCGA-HT-8113-01A-11D-2395-08	TCGA-HT-8113-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e19353f-7e6b-4f4c-bcf4-6cfa746e6f2d	fcc61745-3e32-4bb2-843c-73edb053d9cf	g.chr19:51301519G>C	ENST00000598463.1	-	5	1285	c.187C>G	c.(187-189)Cta>Gta	p.L63V	C19orf48_ENST00000596655.1_Missense_Mutation_p.L63V|C19orf48_ENST00000345523.4_Missense_Mutation_p.L63V|C19orf48_ENST00000391812.1_Missense_Mutation_p.L63V			Q6RUI8	CS048_HUMAN	chromosome 19 open reading frame 48	63										endometrium(1)|kidney(1)|lung(1)|ovary(1)	4		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00531)|GBM - Glioblastoma multiforme(134;0.0145)		TCCTCCCCTAGCCTGCAGGAA	0.617													6	122					0	0	1	0	0	C	51301519	G	C	51301519	3	2	305	1	0	0	0	0	1	0	0	0	1943	962	34	4	170	4	C19orf48	19	51301519	Missense_Mutation	SNP	G	TCGA-HT-8113-01A-11D-2395-08	12484280	51301519	7827464	30	29221											
PCBP3	54039	broad.mit.edu	37	21	47333995	47333995	+	Missense_Mutation	SNP	A	A	C			TCGA-HT-8113-01A-11D-2395-08	TCGA-HT-8113-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e19353f-7e6b-4f4c-bcf4-6cfa746e6f2d	fcc61745-3e32-4bb2-843c-73edb053d9cf	g.chr21:47333995A>C	ENST00000400304.1	+	7	635	c.635A>C	c.(634-636)cAc>cCc	p.H212P	PCBP3_ENST00000400308.1_Intron|PCBP3_ENST00000400310.1_Intron|PCBP3_ENST00000400314.1_Intron|PCBP3_ENST00000449640.1_Intron|PCBP3_ENST00000400309.1_Intron			P57721	PCBP3_HUMAN	poly(rC) binding protein 3	225					mRNA metabolic process	cytosol|mitochondrion|nucleus|ribonucleoprotein complex	DNA binding|RNA binding			biliary_tract(1)|endometrium(3)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17	all_hematologic(128;0.24)			Colorectal(79;0.0411)|READ - Rectum adenocarcinoma(84;0.0649)		TTACTGCAGCACCCGCCGCTG	0.627													6	14					0	0	1	0	0	C	47333995	A	C	47333995	3	2	305	1	0	0	0	0	1	0	0	0	11549	174	6	5		5	PCBP3	21	47333995	Missense_Mutation	SNP	A	TCGA-HT-8113-01A-11D-2395-08		47333995	795900	31	29222											
WNK3	65267	broad.mit.edu	37	X	54335536	54335536	+	Missense_Mutation	SNP	C	C	A			TCGA-HT-8113-01A-11D-2395-08	TCGA-HT-8113-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e19353f-7e6b-4f4c-bcf4-6cfa746e6f2d	fcc61745-3e32-4bb2-843c-73edb053d9cf	g.chrX:54335536C>A	ENST00000354646.2	-	4	1361	c.923G>T	c.(922-924)aGt>aTt	p.S308I	WNK3_ENST00000375159.2_Missense_Mutation_p.S308I|WNK3_ENST00000375169.3_Missense_Mutation_p.S308I	NM_020922.4	NP_065973.2	Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3	308	Protein kinase.				intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation	adherens junction|tight junction	ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity			autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						ACCAATGACACTCTTAGCAAA	0.413													16	48					9.16793e-09	9.72695e-09	1	1	0	A	54335536	C	A	54335536	3	1	305	1	0	0	0	0	1	0	0	0	17439	565	20	4	4563	4	WNK3	23	54335536	Missense_Mutation	SNP	C	TCGA-HT-8113-01A-11D-2395-08		54335536	100935024	32	29223											
SAMD13	148418	broad.mit.edu	37	1	84764244	84764244	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8114-01A-11D-2395-08	TCGA-HT-8114-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787f4a0b-50dc-4321-be34-b6d5943d51bc	09e948c9-68d4-4b69-ad2d-ac1438f1e3b0	g.chr1:84764244C>T	ENST00000370673.3	+	1	196	c.4C>T	c.(4-6)Cgg>Tgg	p.R2W		NM_001010971.2	NP_001010971.1	Q5VXD3	SAM13_HUMAN	sterile alpha motif domain containing 13	0										lung(4)	4				all cancers(265;0.00667)|Epithelial(280;0.0219)|OV - Ovarian serous cystadenocarcinoma(397;0.136)		CGCGGCCATGCGGGGAGGTAA	0.706													2	3					0	0	1	0	0	T	84764244	C	T	84764244	3	4	306	1	0	0	0	0	1	0	0	0	13870	759	27	1	6	1	SAMD13	1	84764244	Missense_Mutation	SNP	C	TCGA-HT-8114-01A-11D-2395-08		84764244	164486377	1	29224											
PKLR	5313	broad.mit.edu	37	1	155265503	155265503	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8114-01A-11D-2395-08	TCGA-HT-8114-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787f4a0b-50dc-4321-be34-b6d5943d51bc	09e948c9-68d4-4b69-ad2d-ac1438f1e3b0	g.chr1:155265503C>T	ENST00000392414.3	-	3	348	c.235G>A	c.(235-237)Gcc>Acc	p.A79T	PKLR_ENST00000342741.4_Missense_Mutation_p.A110T	NM_181871.3	NP_870986.1	P30613	KPYR_HUMAN	pyruvate kinase, liver and RBC	110					endocrine pancreas development|energy reserve metabolic process|glycolysis|positive regulation of cellular metabolic process	cytosol	ATP binding|magnesium ion binding|potassium ion binding|pyruvate kinase activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(78;6.99e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;3.18e-10)|all cancers(21;7.9e-10)|BRCA - Breast invasive adenocarcinoma(34;0.00116)|LUSC - Lung squamous cell carcinoma(543;0.127)		Pyruvic acid(DB00119)	TTCATCCCGGCCTTGATCATC	0.627													4	67					0	0	1	0	0	T	155265503	C	T	155265503	3	4	306	1	0	0	0	0	1	0	0	0	12024	739	26	2	1432	2	PKLR	1	155265503	Missense_Mutation	SNP	C	TCGA-HT-8114-01A-11D-2395-08	70501259	155265503	93985118	2	29225											
C1D	10438	broad.mit.edu	37	2	68270036	68270036	+	Silent	SNP	T	T	G			TCGA-HT-8114-01A-11D-2395-08	TCGA-HT-8114-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787f4a0b-50dc-4321-be34-b6d5943d51bc	09e948c9-68d4-4b69-ad2d-ac1438f1e3b0	g.chr2:68270036T>G	ENST00000355848.3	-	5	458	c.411A>C	c.(409-411)ggA>ggC	p.G137G	C1D_ENST00000409302.1_Silent_p.G137G|C1D_ENST00000407324.1_Silent_p.G176G|C1D_ENST00000410067.3_Silent_p.G137G			Q13901	C1D_HUMAN	C1D nuclear receptor corepressor	137	Interaction with NCOR1 and NCOR2 (By similarity).				apoptosis|maturation of 5.8S rRNA|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nuclear exosome (RNase complex)|nucleolus	DNA binding|RNA binding			lung(2)|urinary_tract(1)	3						TTTTACTTTTTCCTTTATTGG	0.423													4	8					0	0	1	0	0	G	68270036	T	G	68270036	2	3	306	1	0	0	0	0	0	0	0	1	1964	1770	62	5		5	C1D	2	68270036	Silent	SNP	T	TCGA-HT-8114-01A-11D-2395-08		68270036	174929337	3	29226											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-HT-8114-01A-11D-2395-08	TCGA-HT-8114-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787f4a0b-50dc-4321-be34-b6d5943d51bc	09e948c9-68d4-4b69-ad2d-ac1438f1e3b0	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	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								42	47					0	0	1	0	0	T	209113112	C	T	209113112	3	4	306	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HT-8114-01A-11D-2395-08	140843076	209113112	34086261	4	29227											
GPR98	84059	broad.mit.edu	37	5	90086940	90086940	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8114-01A-11D-2395-08	TCGA-HT-8114-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787f4a0b-50dc-4321-be34-b6d5943d51bc	09e948c9-68d4-4b69-ad2d-ac1438f1e3b0	g.chr5:90086940C>T	ENST00000405460.2	+	70	14390	c.14294C>T	c.(14293-14295)gCc>gTc	p.A4765V	GPR98_ENST00000425867.2_Missense_Mutation_p.A426V	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	4765					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GGAGTATTTGCCCTGTATTCG	0.448													3	31					0	0	1	0	0	T	90086940	C	T	90086940	3	4	306	1	0	0	0	0	1	0	0	0	6762	739	26	2	14572	2	GPR98	5	90086940	Missense_Mutation	SNP	C	TCGA-HT-8114-01A-11D-2395-08		90086940	90828320	5	29228											
PCDH12	51294	broad.mit.edu	37	5	141325159	141325159	+	Missense_Mutation	SNP	G	G	C			TCGA-HT-8114-01A-11D-2395-08	TCGA-HT-8114-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787f4a0b-50dc-4321-be34-b6d5943d51bc	09e948c9-68d4-4b69-ad2d-ac1438f1e3b0	g.chr5:141325159G>C	ENST00000231484.3	-	4	4552	c.3342C>G	c.(3340-3342)agC>agG	p.S1114R		NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	protocadherin 12	1114					neuron recognition	integral to plasma membrane	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCAGCAGTGAGCTCATCTCCG	0.662													5	44					0	0	1	0	0	C	141325159	G	C	141325159	3	2	306	1	0	0	0	0	1	0	0	0	11557	962	34	4	216	4	PCDH12	5	141325159	Missense_Mutation	SNP	G	TCGA-HT-8114-01A-11D-2395-08	51238219	141325159	39590101	6	29229											
FAT2	2196	broad.mit.edu	37	5	150932869	150932869	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8114-01A-11D-2395-08	TCGA-HT-8114-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787f4a0b-50dc-4321-be34-b6d5943d51bc	09e948c9-68d4-4b69-ad2d-ac1438f1e3b0	g.chr5:150932869G>A	ENST00000261800.5	-	5	4037	c.4025C>T	c.(4024-4026)cCg>cTg	p.P1342L		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	1342	Cadherin 11.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GATGGAGGACGGCCGGGGCCA	0.582													21	50					0	0	1	0	0	A	150932869	G	A	150932869	3	1	306	1	0	0	0	0	1	0	0	0	5723	1116	39	1	9100	1	FAT2	5	150932869	Missense_Mutation	SNP	G	TCGA-HT-8114-01A-11D-2395-08	9607710	150932869	29982391	7	29230											
BCLAF1	9774	broad.mit.edu	37	6	136597485	136597486	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-HT-8114-01A-11D-2395-08	TCGA-HT-8114-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787f4a0b-50dc-4321-be34-b6d5943d51bc	09e948c9-68d4-4b69-ad2d-ac1438f1e3b0	g.chr6:136597485_136597486delTT	ENST00000531224.1	-	5	1429_1430	c.1177_1178delAA	c.(1177-1179)aagfs	p.K393fs	BCLAF1_ENST00000353331.4_Frame_Shift_Del_p.K391fs|BCLAF1_ENST00000530767.1_Intron|BCLAF1_ENST00000527759.1_Frame_Shift_Del_p.K391fs|BCLAF1_ENST00000392348.2_Frame_Shift_Del_p.K391fs|BCLAF1_ENST00000527536.1_Frame_Shift_Del_p.K393fs	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	393					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		ATCATTAAACTTTTGTTTTCCA	0.436													11	574	---	---	---	---						-	136597486	TT	-	136597485	7	5	306	1	0	1	0	1	0	0	0	0	1381	1609	56	0	1620	0	BCLAF1	6	136597485	Frame_Shift_Del	DEL	TT	TCGA-HT-8114-01A-11D-2395-08		136597485	34517582	8	29231											
MAP7	9053	broad.mit.edu	37	6	136682203	136682203	+	Silent	SNP	C	C	T			TCGA-HT-8114-01A-11D-2395-08	TCGA-HT-8114-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787f4a0b-50dc-4321-be34-b6d5943d51bc	09e948c9-68d4-4b69-ad2d-ac1438f1e3b0	g.chr6:136682203C>T	ENST00000354570.3	-	12	2051	c.1641G>A	c.(1639-1641)caG>caA	p.Q547Q	MAP7_ENST00000454590.1_Silent_p.Q569Q|MAP7_ENST00000544465.1_Silent_p.Q532Q|MAP7_ENST00000438100.2_Silent_p.Q532Q|MAP7_ENST00000432797.2_Silent_p.Q401Q	NM_001198616.1|NM_001198617.1|NM_001198619.1|NM_003980.4	NP_001185545.1|NP_001185546.1|NP_001185548.1|NP_003971.1	Q14244	MAP7_HUMAN	microtubule-associated protein 7	547					establishment or maintenance of cell polarity|microtubule cytoskeleton organization|protein localization in plasma membrane|response to osmotic stress	basolateral plasma membrane|microtubule|microtubule associated complex|nucleus|perinuclear region of cytoplasm	receptor binding|structural molecule activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(11)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643)		CCGCCTGCCGCTGCAGCTGCT	0.731													10	6					0	0	1	0	0	T	136682203	C	T	136682203	2	4	306	1	0	0	0	0	0	0	0	1	9316	796	28	2		2	MAP7	6	136682203	Silent	SNP	C	TCGA-HT-8114-01A-11D-2395-08	84718	136682203	34432864	9	29232											
ATAD2	29028	broad.mit.edu	37	8	124351613	124351613	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-8114-01A-11D-2395-08	TCGA-HT-8114-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787f4a0b-50dc-4321-be34-b6d5943d51bc	09e948c9-68d4-4b69-ad2d-ac1438f1e3b0	g.chr8:124351613T>C	ENST00000287394.5	-	20	2899	c.2792A>G	c.(2791-2793)aAa>aGa	p.K931R	ATAD2_ENST00000521903.1_Missense_Mutation_p.K249R	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	931					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			TTCAAAAAATTTTGTCCGTTC	0.274													11	24					0	0	1	0	0	C	124351613	T	C	124351613	3	2	306	1	0	0	0	0	1	0	0	0	1070	1841	64	3	1416	3	ATAD2	8	124351613	Missense_Mutation	SNP	T	TCGA-HT-8114-01A-11D-2395-08		124351613	22012409	10	29233											
ROM1	6094	broad.mit.edu	37	11	62380964	62380964	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8114-01A-11D-2395-08	TCGA-HT-8114-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787f4a0b-50dc-4321-be34-b6d5943d51bc	09e948c9-68d4-4b69-ad2d-ac1438f1e3b0	g.chr11:62380964G>A	ENST00000278833.3	+	1	752	c.211G>A	c.(211-213)Gcg>Acg	p.A71T	ROM1_ENST00000534093.1_Intron	NM_000327.3	NP_000318	Q03395	ROM1_HUMAN	retinal outer segment membrane protein 1	71					cell adhesion|visual perception	integral to plasma membrane				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	8						GGCAGCGGGCGCGGTGGCTCT	0.667													5	26					0	0	1	0	0	A	62380964	G	A	62380964	3	1	306	1	0	0	0	0	1	0	0	0	13573	1087	38	1	213	1	ROM1	11	62380964	Missense_Mutation	SNP	G	TCGA-HT-8114-01A-11D-2395-08		62380964	72625552	11	29234											
CRYAB	1410	broad.mit.edu	37	11	111780950	111780950	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-8114-01A-11D-2395-08	TCGA-HT-8114-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787f4a0b-50dc-4321-be34-b6d5943d51bc	09e948c9-68d4-4b69-ad2d-ac1438f1e3b0	g.chr11:111780950G>T	ENST00000533971.1	-	2	516	c.425C>A	c.(424-426)cCa>cAa	p.P142Q	CRYAB_ENST00000531198.1_Intron|CRYAB_ENST00000227251.3_Intron|CRYAB_ENST00000533475.1_Intron|CRYAB_ENST00000525823.1_Intron|CRYAB_ENST00000533280.1_Intron|CRYAB_ENST00000526180.1_Intron|CRYAB_ENST00000527950.1_Intron			P02511	CRYAB_HUMAN	crystallin, alpha B	0					anti-apoptosis|muscle contraction|negative regulation of intracellular transport|protein folding|protein homooligomerization|response to heat	cytoplasm|nucleus	protein homodimerization activity|structural constituent of eye lens|unfolded protein binding			endometrium(1)|large_intestine(1)|lung(2)|skin(4)	8		all_cancers(61;1.26e-15)|all_epithelial(67;9.52e-10)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;3.57e-07)|BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|all cancers(92;6.57e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.051)		GTTATGGCTTGGGACTGGAAT	0.418													5	16					5.9392e-07	6.59911e-07	1	1	0	T	111780950	G	T	111780950	3	4	306	1	0	0	0	0	1	0	0	0	3929	1363	47	5		5	CRYAB	11	111780950	Missense_Mutation	SNP	G	TCGA-HT-8114-01A-11D-2395-08	49399986	111780950	23225566	12	29235											
SRPR	6734	broad.mit.edu	37	11	126134414	126134414	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8114-01A-11D-2395-08	TCGA-HT-8114-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787f4a0b-50dc-4321-be34-b6d5943d51bc	09e948c9-68d4-4b69-ad2d-ac1438f1e3b0	g.chr11:126134414C>T	ENST00000332118.6	-	12	1700	c.1546G>A	c.(1546-1548)Gtg>Atg	p.V516M	SRPR_ENST00000532259.1_Missense_Mutation_p.V488M	NM_003139.3	NP_003130.2	P08240	SRPR_HUMAN	signal recognition particle receptor (docking protein)	516					SRP-dependent cotranslational protein targeting to membrane	integral to membrane|signal recognition particle receptor complex	GTP binding|GTPase activity|receptor activity|signal recognition particle binding			endometrium(7)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)	21	all_hematologic(175;0.145)			BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0736)		ACCAGCACCACGTCAAAGCCT	0.507													7	58					0	0	1	0	0	T	126134414	C	T	126134414	3	4	306	1	0	0	0	0	1	0	0	0	15218	536	19	1	382	1	SRPR	11	126134414	Missense_Mutation	SNP	C	TCGA-HT-8114-01A-11D-2395-08	14353464	126134414	8872102	13	29236											
GAS6	2621	broad.mit.edu	37	13	114531664	114531664	+	Silent	SNP	C	C	T			TCGA-HT-8114-01A-11D-2395-08	TCGA-HT-8114-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787f4a0b-50dc-4321-be34-b6d5943d51bc	09e948c9-68d4-4b69-ad2d-ac1438f1e3b0	g.chr13:114531664C>T	ENST00000357389.3	-	11	1445	c.1293G>A	c.(1291-1293)gcG>gcA	p.A431A	GAS6_ENST00000418959.3_Silent_p.A89A|GAS6_ENST00000327773.6_Silent_p.A388A|GAS6_ENST00000355761.4_Silent_p.A334A|GAS6-AS1_ENST00000458001.1_RNA|GAS6_ENST00000450766.1_Silent_p.A115A			Q14393	GAS6_HUMAN	growth arrest-specific 6	431	Laminin G-like 1.				cell proliferation|leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|post-translational protein modification|proteolysis|regulation of growth	endoplasmic reticulum lumen|extracellular space|Golgi lumen|platelet alpha granule lumen	calcium ion binding|receptor agonist activity			central_nervous_system(4)|ovary(1)	5	Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0176)|all_epithelial(44;0.0104)|all_lung(25;0.0249)|Lung NSC(25;0.0908)|Breast(118;0.188)				CCAGATTCCGCGCCAGCTCCT	0.537													13	71					0	0	1	0	0	T	114531664	C	T	114531664	2	4	306	1	0	0	0	0	0	0	0	1	6289	755	27	1		1	GAS6	13	114531664	Silent	SNP	C	TCGA-HT-8114-01A-11D-2395-08		114531664	638214	14	29237											
ZC3H14	79882	broad.mit.edu	37	14	89044401	89044401	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-8114-01A-11D-2395-08	TCGA-HT-8114-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787f4a0b-50dc-4321-be34-b6d5943d51bc	09e948c9-68d4-4b69-ad2d-ac1438f1e3b0	g.chr14:89044401T>C	ENST00000251038.5	+	9	1421	c.1196T>C	c.(1195-1197)gTc>gCc	p.V399A	ZC3H14_ENST00000336693.4_Missense_Mutation_p.V365A|ZC3H14_ENST00000557607.1_Missense_Mutation_p.V244A|ZC3H14_ENST00000555755.1_Missense_Mutation_p.V399A|ZC3H14_ENST00000359301.3_Missense_Mutation_p.V365A|ZC3H14_ENST00000302216.8_Missense_Mutation_p.V399A|ZC3H14_ENST00000393514.5_Missense_Mutation_p.V399A|ZC3H14_ENST00000556945.1_Missense_Mutation_p.V399A|ZC3H14_ENST00000557605.1_3'UTR	NM_001160103.1|NM_001160104.1|NM_024824.4	NP_001153575.1|NP_001153576.1|NP_079100.2	Q6PJT7	ZC3HE_HUMAN	zinc finger CCCH-type containing 14	399						cytoplasm|nuclear speck	protein binding|RNA binding|zinc ion binding			cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(2)	21						GCAGAAGTGGTCCAGGGACAA	0.388													27	73					0	0	1	0	0	C	89044401	T	C	89044401	3	2	306	1	0	0	0	0	1	0	0	0	17625	1667	58	3	1230	3	ZC3H14	14	89044401	Missense_Mutation	SNP	T	TCGA-HT-8114-01A-11D-2395-08		89044401	18305139	15	29238											
PPP2R5C	5527	broad.mit.edu	37	14	102323220	102323220	+	Missense_Mutation	SNP	A	A	G	rs142106753		TCGA-HT-8114-01A-11D-2395-08	TCGA-HT-8114-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787f4a0b-50dc-4321-be34-b6d5943d51bc	09e948c9-68d4-4b69-ad2d-ac1438f1e3b0	g.chr14:102323220A>G	ENST00000422945.2	+	4	481	c.385A>G	c.(385-387)Atg>Gtg	p.M129V	PPP2R5C_ENST00000334743.5_Missense_Mutation_p.M98V|PPP2R5C_ENST00000328724.5_Missense_Mutation_p.M153V|PPP2R5C_ENST00000445439.3_Missense_Mutation_p.M98V|PPP2R5C_ENST00000350249.3_Missense_Mutation_p.M98V|PPP2R5C_ENST00000557095.1_Missense_Mutation_p.M98V	NM_001161725.1	NP_001155197.1	Q13362	2A5G_HUMAN	protein phosphatase 2, regulatory subunit B', gamma	98					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|negative regulation of cell proliferation|proteasomal ubiquitin-dependent protein catabolic process|signal transduction	chromosome, centromeric region|nucleus|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20						AGTAGTCCATATGGTAAGTGA	0.418													5	94					0	0	1	0	0	G	102323220	A	G	102323220	3	3	306	1	0	0	0	0	1	0	0	0	12443	449	16	3	667	3	PPP2R5C	14	102323220	Missense_Mutation	SNP	A	TCGA-HT-8114-01A-11D-2395-08	13278819	102323220	5026320	16	29239											
TP53	7157	broad.mit.edu	37	17	7578291	7578291	+	Splice_Site	SNP	T	T	C			TCGA-HT-8114-01A-11D-2395-08	TCGA-HT-8114-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787f4a0b-50dc-4321-be34-b6d5943d51bc	09e948c9-68d4-4b69-ad2d-ac1438f1e3b0	g.chr17:7578291T>C	ENST00000420246.2	-	6	692		c.e6-2		TP53_ENST00000574684.1_Intron|TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000269305.4_Splice_Site	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53						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.?(16)|p.0?(8)|p.G187fs*16(2)|p.D186_P191delDGLAPP(1)|p.L188fs*19(1)|p.G187_L188delGL(1)|p.G187fs*22(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)		GGGCCAGACCTAAGAGCAATC	0.552		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			28	16					0	0	1	0	0	C	7578291	T	C	7578291	5	2	306	1	0	0	0	0	0	0	1	0	16442	1536	53	3	736	3	TP53	17	7578291	Splice_Site	SNP	T	TCGA-HT-8114-01A-11D-2395-08		7578291	73616919	17	29240			1	33		2	2	104	T		8.317708e-05
TP53	7157	broad.mit.edu	37	17	7578394	7578394	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-8114-01A-11D-2395-08	TCGA-HT-8114-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787f4a0b-50dc-4321-be34-b6d5943d51bc	09e948c9-68d4-4b69-ad2d-ac1438f1e3b0	g.chr17:7578394T>C	ENST00000420246.2	-	5	668	c.536A>G	c.(535-537)cAt>cGt	p.H179R	TP53_ENST00000574684.1_5'UTR|TP53_ENST00000413465.2_Missense_Mutation_p.H179R|TP53_ENST00000359597.4_Missense_Mutation_p.H179R|TP53_ENST00000455263.2_Missense_Mutation_p.H179R|TP53_ENST00000445888.2_Missense_Mutation_p.H179R|TP53_ENST00000269305.4_Missense_Mutation_p.H179R	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	179	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).|HH -> QS (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.H179R(108)|p.H179L(43)|p.P177_C182delPHHERC(8)|p.0?(8)|p.H47L(4)|p.H86L(4)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H179P(3)|p.H178_S183delHHERCS(3)|p.R175_E180delRCPHHE(3)|p.P177fs*3(2)|p.V173fs*59(2)|p.H86R(2)|p.H47R(2)|p.R174fs*1(2)|p.H179fs*68(1)|p.C176fs*65(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H46_S51delHHERCS(1)|p.H178fs*6(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.H85_S90delHHERCS(1)|p.E171fs*1(1)|p.R174fs*3(1)|p.E171fs*61(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)		GCAGCGCTCATGGTGGGGGCA	0.642		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)			10	56					0	0	1	0	0	C	7578394	T	C	7578394	3	2	306	1	0	0	0	0	1	0	0	0	16442	1464	51	3	762	3	TP53	17	7578394	Missense_Mutation	SNP	T	TCGA-HT-8114-01A-11D-2395-08	103	7578394	73616816	18	29241			1	33		2	2	104	T		8.317708e-05
ZNF235	9310	broad.mit.edu	37	19	44793178	44793178	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-8114-01A-11D-2395-08	TCGA-HT-8114-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787f4a0b-50dc-4321-be34-b6d5943d51bc	09e948c9-68d4-4b69-ad2d-ac1438f1e3b0	g.chr19:44793178T>C	ENST00000291182.4	-	5	512	c.410A>G	c.(409-411)cAt>cGt	p.H137R	ZNF235_ENST00000589248.1_Intron|ZNF235_ENST00000589799.1_Intron	NM_004234.4	NP_004225.3	Q14590	ZN235_HUMAN	zinc finger protein 235	137					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29		Prostate(69;0.0352)|all_neural(266;0.116)				GGGGGAATCATGGTGCTTGGG	0.438													9	113					0	0	1	0	0	C	44793178	T	C	44793178	3	2	306	1	0	0	0	0	1	0	0	0	17846	1464	51	3	1810	3	ZNF235	19	44793178	Missense_Mutation	SNP	T	TCGA-HT-8114-01A-11D-2395-08		44793178	14335805	19	29242											
PRNP	5621	broad.mit.edu	37	20	4680251	4680251	+	Missense_Mutation	SNP	A	A	G	rs1799990	byFrequency	TCGA-HT-8114-01A-11D-2395-08	TCGA-HT-8114-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787f4a0b-50dc-4321-be34-b6d5943d51bc	09e948c9-68d4-4b69-ad2d-ac1438f1e3b0	g.chr20:4680251A>G	ENST00000379440.4	+	2	672	c.385A>G	c.(385-387)Atg>Gtg	p.M129V	PRNP_ENST00000430350.2_Missense_Mutation_p.M129V	NM_000311.3|NM_001080121.1|NM_001080122.1|NM_001080123.1|NM_001271561.1|NM_183079.2	NP_000302.1|NP_001073590.1|NP_001073591.1|NP_001073592.1|NP_001258490.1|NP_898902.1	P04156	PRIO_HUMAN	prion protein	129	Interaction with GRB2, ERI3 and SYN1 (By similarity).		M -> V (polymorphism; determines the disease phenotype in patients who have a PrP mutation at position 178. Patients with M-129 develop FFI, those with V-129 develop CJD; dbSNP:rs1799990).		axon guidance|cell cycle arrest|cellular copper ion homeostasis|metabolic process|negative regulation of activated T cell proliferation|negative regulation of calcineurin-NFAT signaling pathway|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-2 production|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of T cell receptor signaling pathway|protein homooligomerization|response to oxidative stress	anchored to membrane|endoplasmic reticulum|extrinsic to membrane|Golgi apparatus|membrane raft|nucleus|plasma membrane	copper ion binding|identical protein binding|microtubule binding	p.M129V(2)		central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	14					Tetracycline(DB00759)	TGGCGGCTACATGCTGGGAAG	0.547													6	79					0	0	1	0	0	G	4680251	A	G	4680251	3	3	306	1	0	0	0	0	1	0	0	0	12596	217	8	3	387	3	PRNP	20	4680251	Missense_Mutation	SNP	A	TCGA-HT-8114-01A-11D-2395-08		4680251	58345269	20	29243											
ITSN1	6453	broad.mit.edu	37	21	35183494	35183494	+	Silent	SNP	G	G	A			TCGA-HT-8114-01A-11D-2395-08	TCGA-HT-8114-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787f4a0b-50dc-4321-be34-b6d5943d51bc	09e948c9-68d4-4b69-ad2d-ac1438f1e3b0	g.chr21:35183494G>A	ENST00000381318.3	+	21	2823	c.2535G>A	c.(2533-2535)acG>acA	p.T845T	AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000437442.2_Silent_p.T840T|ITSN1_ENST00000399355.2_Silent_p.T845T|ITSN1_ENST00000381285.4_Silent_p.T845T|ITSN1_ENST00000399326.3_Silent_p.T840T|ITSN1_ENST00000379960.5_Silent_p.T840T|ITSN1_ENST00000399353.1_Silent_p.T803T|ITSN1_ENST00000399338.4_Silent_p.T840T|ITSN1_ENST00000399367.3_Silent_p.T840T|ITSN1_ENST00000399352.1_Silent_p.T840T|ITSN1_ENST00000399349.1_Silent_p.T840T|ITSN1_ENST00000381291.4_Silent_p.T845T	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	845					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						AGCCCTCCACGACCCCTAATA	0.547													10	102					0	0	1	0	0	A	35183494	G	A	35183494	2	1	306	1	0	0	0	0	0	0	0	1	7970	1045	37	1		1	ITSN1	21	35183494	Silent	SNP	G	TCGA-HT-8114-01A-11D-2395-08		35183494	12946401	21	29244											
NAP1L2	4674	broad.mit.edu	37	X	72433664	72433666	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-HT-8114-01A-11D-2395-08	TCGA-HT-8114-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787f4a0b-50dc-4321-be34-b6d5943d51bc	09e948c9-68d4-4b69-ad2d-ac1438f1e3b0	g.chrX:72433664_72433666delTCC	ENST00000373517.3	-	1	1018_1020	c.663_665delGGA	c.(661-666)gaggac>gac	p.E221del	NAP1L2_ENST00000536638.1_In_Frame_Del_p.E79del	NM_021963.3	NP_068798.1	Q9ULW6	NP1L2_HUMAN	nucleosome assembly protein 1-like 2	221	Glu-rich (acidic).				nucleosome assembly	chromatin assembly complex				NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3)	29	Renal(35;0.156)					CTCAATGTCGtcctcctcctcct	0.424													7	42	---	---	---	---						-	72433666	TCC	-	72433664	7	5	306	1	0	1	0	1	0	0	0	0	10205	1667	58	0	721	0	NAP1L2	23	72433664	In_Frame_Del	DEL	TCC	TCGA-HT-8114-01A-11D-2395-08		72433664	82836896	22	29245											
ATRX	546	broad.mit.edu	37	X	76937602	76937603	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HT-8114-01A-11D-2395-08	TCGA-HT-8114-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787f4a0b-50dc-4321-be34-b6d5943d51bc	09e948c9-68d4-4b69-ad2d-ac1438f1e3b0	g.chrX:76937602_76937603insT	ENST00000373344.5	-	9	3359_3360	c.3145_3146insA	c.(3145-3147)atafs	p.I1049fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Ins_p.I1011fs	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1049					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)	TTTATCTCTTATTTTTTTACTT	0.327			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						36	45	---	---	---	---						T	76937603	-	T	76937602	7	5	306	1	0	1	1	0	0	0	0	0	1206	449	16	0	4440	0	ATRX	23	76937602	Frame_Shift_Ins	INS	-	TCGA-HT-8114-01A-11D-2395-08	4503938	76937602	78332958	23	29246											
ATRX	546	broad.mit.edu	37	X	76938089	76938092	+	Frame_Shift_Del	DEL	TCTC	TCTC	-	rs141180098		TCGA-HT-8114-01A-11D-2395-08	TCGA-HT-8114-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787f4a0b-50dc-4321-be34-b6d5943d51bc	09e948c9-68d4-4b69-ad2d-ac1438f1e3b0	g.chrX:76938089_76938092delTCTC	ENST00000373344.5	-	9	2870_2873	c.2656_2659delGAGA	c.(2656-2661)gagactfs	p.ET886fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.ET848fs	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	886					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.E886fs*18(1)|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)	GAAGAGAAAGTCTCTCTCTCTTGT	0.412			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						25	208	---	---	---	---						-	76938092	TCTC	-	76938089	7	5	306	1	0	1	0	1	0	0	0	0	1206	1667	58	0	4927	0	ATRX	23	76938089	Frame_Shift_Del	DEL	TCTC	TCGA-HT-8114-01A-11D-2395-08	487	76938089	78332471	24	29247											
HDX	139324	broad.mit.edu	37	X	83724060	83724060	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-8114-01A-11D-2395-08	TCGA-HT-8114-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787f4a0b-50dc-4321-be34-b6d5943d51bc	09e948c9-68d4-4b69-ad2d-ac1438f1e3b0	g.chrX:83724060G>T	ENST00000297977.5	-	3	782	c.671C>A	c.(670-672)cCa>cAa	p.P224Q	HDX_ENST00000373177.2_Missense_Mutation_p.P224Q|HDX_ENST00000506585.2_Missense_Mutation_p.P166Q	NM_001177479.1|NM_144657.4	NP_001170950.1|NP_653258.2	Q7Z353	HDX_HUMAN	highly divergent homeobox	224						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(12)|liver(1)|lung(19)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						AATCCCAACTGGTTCAATTTT	0.413													10	81					3.86212e-05	4.06539e-05	1	1	0	T	83724060	G	T	83724060	3	4	306	1	0	0	0	0	1	0	0	0	7067	1348	47	5	1433	5	HDX	23	83724060	Missense_Mutation	SNP	G	TCGA-HT-8114-01A-11D-2395-08	6785971	83724060	71546500	25	29248											
MRPS9	64965	broad.mit.edu	37	2	105708997	105708997	+	Missense_Mutation	SNP	G	G	A	rs147161518	byFrequency	TCGA-HT-8558-01A-21D-2395-08	TCGA-HT-8558-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39730eb2-7516-40fe-9d21-c44df7ac4c82	2c877cd5-7754-43f2-9b8e-d7179110ee18	g.chr2:105708997G>A	ENST00000258455.3	+	8	900	c.790G>A	c.(790-792)Gag>Aag	p.E264K		NM_182640.2	NP_872578.1	P82933	RT09_HUMAN	mitochondrial ribosomal protein S9	264					DNA damage response, detection of DNA damage|translation	mitochondrial small ribosomal subunit	protein binding|structural constituent of ribosome			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18						ACAGTATGATGAGCAAGGAAT	0.368													4	62					0	0	1	0	0	A	105708997	G	A	105708997	3	1	307	1	0	0	0	0	1	0	0	0	9898	1291	45	2	820	2	MRPS9	2	105708997	Missense_Mutation	SNP	G	TCGA-HT-8558-01A-21D-2395-08		105708997	137490376	1	29249											
EML5	161436	broad.mit.edu	37	14	89154773	89154773	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-8558-01A-21D-2395-08	TCGA-HT-8558-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39730eb2-7516-40fe-9d21-c44df7ac4c82	2c877cd5-7754-43f2-9b8e-d7179110ee18	g.chr14:89154773T>C	ENST00000554922.1	-	18	2832	c.2584A>G	c.(2584-2586)Aaa>Gaa	p.K862E	EML5_ENST00000380664.5_Missense_Mutation_p.K862E|EML5_ENST00000352093.5_Intron	NM_183387.2	NP_899243.1	Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like 5	862						cytoplasm|microtubule				breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						GTGTCATTTTTCCCCAGTGTG	0.388													10	174					0	0	1	0	0	C	89154773	T	C	89154773	3	2	307	1	0	0	0	0	1	0	0	0	5128	1792	62	3	3453	3	EML5	14	89154773	Missense_Mutation	SNP	T	TCGA-HT-8558-01A-21D-2395-08		89154773	18194767	2	29250											
ZNF682	91120	broad.mit.edu	37	19	20117231	20117231	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-8558-01A-21D-2395-08	TCGA-HT-8558-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39730eb2-7516-40fe-9d21-c44df7ac4c82	2c877cd5-7754-43f2-9b8e-d7179110ee18	g.chr19:20117231C>G	ENST00000397165.2	-	4	1240	c.1080G>C	c.(1078-1080)aaG>aaC	p.K360N	ZNF682_ENST00000596019.1_Intron|ZNF682_ENST00000358523.5_Missense_Mutation_p.K328N|ZNF682_ENST00000397162.1_Missense_Mutation_p.K328N|ZNF682_ENST00000595736.1_Missense_Mutation_p.K284N|ZNF682_ENST00000597972.1_Missense_Mutation_p.K366N	NM_033196.2	NP_149973.1	O95780	ZN682_HUMAN	zinc finger protein 682	360					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	14						TATGAATTACCTTATGTTCAG	0.363													5	37					0	0	1	0	0	G	20117231	C	G	20117231	3	3	307	1	0	0	0	0	1	0	0	0	18145	680	24	4	420	4	ZNF682	19	20117231	Missense_Mutation	SNP	C	TCGA-HT-8558-01A-21D-2395-08		20117231	39011752	3	29251											
SLC44A5	204962	broad.mit.edu	37	1	75685524	75685524	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-8563-01A-11D-2395-08	TCGA-HT-8563-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1bab17-40da-40e8-9739-c360d082f6bd	fde28c63-fec0-4e41-a02d-54bbb121fbc9	g.chr1:75685524A>G	ENST00000370855.5	-	15	1252	c.1139T>C	c.(1138-1140)tTg>tCg	p.L380S	SLC44A5_ENST00000535611.1_Missense_Mutation_p.L250S|SLC44A5_ENST00000370859.3_Missense_Mutation_p.L380S	NM_152697.4	NP_689910.2	Q8NCS7	CTL5_HUMAN	solute carrier family 44, member 5	380						integral to membrane|plasma membrane	choline transmembrane transporter activity			kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						GATTGAGAGCAAAATGAAAGT	0.368													7	35					0	0	1	0	0	G	75685524	A	G	75685524	3	3	308	1	0	0	0	0	1	0	0	0	14694	131	5	3	1171	3	SLC44A5	1	75685524	Missense_Mutation	SNP	A	TCGA-HT-8563-01A-11D-2395-08		75685524	173565097	1	29252											
ST6GALNAC3	256435	broad.mit.edu	37	1	77093225	77093225	+	Missense_Mutation	SNP	A	A	T			TCGA-HT-8563-01A-11D-2395-08	TCGA-HT-8563-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1bab17-40da-40e8-9739-c360d082f6bd	fde28c63-fec0-4e41-a02d-54bbb121fbc9	g.chr1:77093225A>T	ENST00000328299.3	+	4	860	c.712A>T	c.(712-714)Ata>Tta	p.I238L		NM_152996.2	NP_694541.2	Q8NDV1	SIA7C_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3	238					protein glycosylation	integral to Golgi membrane	sialyltransferase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|ovary(3)|prostate(1)|skin(2)	36						CTACGGGATGATAAATGACAC	0.413													36	148					0	0	1	0	0	T	77093225	A	T	77093225	3	4	308	1	0	0	0	0	1	0	0	0	15281	333	12	4	740	4	ST6GALNAC3	1	77093225	Missense_Mutation	SNP	A	TCGA-HT-8563-01A-11D-2395-08	1407701	77093225	172157396	2	29253											
OLFML2B	25903	broad.mit.edu	37	1	161967933	161967933	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8563-01A-11D-2395-08	TCGA-HT-8563-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1bab17-40da-40e8-9739-c360d082f6bd	fde28c63-fec0-4e41-a02d-54bbb121fbc9	g.chr1:161967933C>T	ENST00000294794.3	-	6	1579	c.1156G>A	c.(1156-1158)Gcc>Acc	p.A386T	OLFML2B_ENST00000367940.2_Missense_Mutation_p.A387T	NM_015441.1	NP_056256.1	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B	386										breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			GCATGGTTGGCGATGCTGGGA	0.612													46	157					0	0	1	0	0	T	161967933	C	T	161967933	3	4	308	1	0	0	0	0	1	0	0	0	10906	768	27	1	1108	1	OLFML2B	1	161967933	Missense_Mutation	SNP	C	TCGA-HT-8563-01A-11D-2395-08	84874708	161967933	87282688	3	29254											
MGAT5	4249	broad.mit.edu	37	2	135180442	135180442	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-8563-01A-11D-2395-08	TCGA-HT-8563-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1bab17-40da-40e8-9739-c360d082f6bd	fde28c63-fec0-4e41-a02d-54bbb121fbc9	g.chr2:135180442C>G	ENST00000409645.1	+	14	1998	c.1746C>G	c.(1744-1746)aaC>aaG	p.N582K	MGAT5_ENST00000281923.2_Missense_Mutation_p.N582K			Q09328	MGT5A_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase	582					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|pancreas(1)|skin(3)	36				BRCA - Breast invasive adenocarcinoma(221;0.0964)		TTGACCTCAACAATCAGGAGG	0.448													16	76					0	0	1	0	0	G	135180442	C	G	135180442	3	3	308	1	0	0	0	0	1	0	0	0	9598	477	17	5	1796	5	MGAT5	2	135180442	Missense_Mutation	SNP	C	TCGA-HT-8563-01A-11D-2395-08		135180442	108018931	4	29255											
TTN	7273	broad.mit.edu	37	2	179413638	179413638	+	Silent	SNP	G	G	A	rs140576051	by1000genomes	TCGA-HT-8563-01A-11D-2395-08	TCGA-HT-8563-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1bab17-40da-40e8-9739-c360d082f6bd	fde28c63-fec0-4e41-a02d-54bbb121fbc9	g.chr2:179413638G>A	ENST00000589042.1	-	339	92939	c.92715C>T	c.(92713-92715)ggC>ggT	p.G30905G	TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000591111.1_Silent_p.G29264G|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Silent_p.G21965G|TTN_ENST00000460472.2_Silent_p.G21840G|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000342992.6_Silent_p.G28337G|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|RP11-65L3.2_ENST00000603415.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Silent_p.G22032G	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	29264	Fibronectin type-III 125.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CACAGCTGTCGCCTTTTCCAG	0.423													21	77					0	0	1	0	0	A	179413638	G	A	179413638	2	1	308	1	0	0	0	0	0	0	0	1	16797	1074	38	1		1	TTN	2	179413638	Silent	SNP	G	TCGA-HT-8563-01A-11D-2395-08	44233196	179413638	63785735	5	29256											
DNAJC10	54431	broad.mit.edu	37	2	183593668	183593668	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HT-8563-01A-11D-2395-08	TCGA-HT-8563-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1bab17-40da-40e8-9739-c360d082f6bd	fde28c63-fec0-4e41-a02d-54bbb121fbc9	g.chr2:183593668C>T	ENST00000264065.7	+	7	995	c.580C>T	c.(580-582)Cga>Tga	p.R194*	DNAJC10_ENST00000537515.1_Nonsense_Mutation_p.R194*	NM_018981.1	NP_061854.1	Q8IXB1	DJC10_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 10		Thioredoxin 1.				apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|ER-associated protein catabolic process|glycerol ether metabolic process|negative regulation of protein phosphorylation|protein folding|response to endoplasmic reticulum stress	endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|extracellular region	ATPase activator activity|ATPase binding|chaperone binding|electron carrier activity|heat shock protein binding|misfolded protein binding|protein disulfide oxidoreductase activity|unfolded protein binding			breast(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(15)|ovary(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			AATGCTTTGCCGAATGAAAGG	0.378													17	94					0	0	1	0	0	T	183593668	C	T	183593668	4	4	308	1	0	0	0	0	0	1	0	0	4656	644	23	1	598	1	DNAJC10	2	183593668	Nonsense_Mutation	SNP	C	TCGA-HT-8563-01A-11D-2395-08	4180030	183593668	59605705	6	29257											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-HT-8563-01A-11D-2395-08	TCGA-HT-8563-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1bab17-40da-40e8-9739-c360d082f6bd	fde28c63-fec0-4e41-a02d-54bbb121fbc9	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	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								21	73					0	0	1	0	0	T	209113112	C	T	209113112	3	4	308	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HT-8563-01A-11D-2395-08	25519444	209113112	34086261	7	29258											
ZBTB20	26137	broad.mit.edu	37	3	114070216	114070216	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HT-8563-01A-11D-2395-08	TCGA-HT-8563-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1bab17-40da-40e8-9739-c360d082f6bd	fde28c63-fec0-4e41-a02d-54bbb121fbc9	g.chr3:114070216G>A	ENST00000462705.1	-	11	1311	c.490C>T	c.(490-492)Cag>Tag	p.Q164*	ZBTB20_ENST00000474710.1_Nonsense_Mutation_p.Q237*|ZBTB20_ENST00000357258.3_Nonsense_Mutation_p.Q164*|ZBTB20_ENST00000481632.1_Nonsense_Mutation_p.Q164*|ZBTB20_ENST00000464560.1_Nonsense_Mutation_p.Q164*|ZBTB20_ENST00000471418.1_Nonsense_Mutation_p.Q164*|ZBTB20_ENST00000393785.2_Nonsense_Mutation_p.Q164*	NM_001164343.1	NP_001157815.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	237	BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		ACGCTGTGCTGTGGGTGGCTC	0.657													33	85					0	0	1	0	0	A	114070216	G	A	114070216	4	1	308	1	0	0	0	0	0	1	0	0	17588	1386	48	2	1524	2	ZBTB20	3	114070216	Nonsense_Mutation	SNP	G	TCGA-HT-8563-01A-11D-2395-08		114070216	83952214	8	29259											
STK32B	55351	broad.mit.edu	37	4	5461892	5461892	+	Nonsense_Mutation	SNP	C	C	G			TCGA-HT-8563-01A-11D-2395-08	TCGA-HT-8563-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1bab17-40da-40e8-9739-c360d082f6bd	fde28c63-fec0-4e41-a02d-54bbb121fbc9	g.chr4:5461892C>G	ENST00000282908.5	+	9	1268	c.846C>G	c.(844-846)taC>taG	p.Y282*	STK32B_ENST00000508728.1_3'UTR|STK32B_ENST00000512636.1_Nonsense_Mutation_p.Y205*|STK32B_ENST00000510398.1_Nonsense_Mutation_p.Y235*	NM_018401.1	NP_060871.1	Q9NY57	ST32B_HUMAN	serine/threonine kinase 32B	282	Protein kinase.						ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	39						GCGTGCCCTACTTGGCCGACA	0.562											OREG0016061	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	120					0	0	1	0	0	G	5461892	C	G	5461892	4	3	308	1	0	0	0	0	0	1	0	0	15354	576	20	4	880	4	STK32B	4	5461892	Nonsense_Mutation	SNP	C	TCGA-HT-8563-01A-11D-2395-08		5461892	185692384	9	29260											
PPARGC1A	10891	broad.mit.edu	37	4	23815630	23815630	+	Silent	SNP	T	T	C			TCGA-HT-8563-01A-11D-2395-08	TCGA-HT-8563-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1bab17-40da-40e8-9739-c360d082f6bd	fde28c63-fec0-4e41-a02d-54bbb121fbc9	g.chr4:23815630T>C	ENST00000264867.2	-	8	1595	c.1476A>G	c.(1474-1476)gaA>gaG	p.E492E	PPARGC1A_ENST00000509702.1_5'UTR	NM_013261.3	NP_037393.1	Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 alpha	492					androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription cofactor activity|transcription factor binding			central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51		Breast(46;0.0503)				TGGAGAATTGTTCATTACTGA	0.458													30	112					0	0	1	0	0	C	23815630	T	C	23815630	2	2	308	1	0	0	0	0	0	0	0	1	12345	1722	60	3		3	PPARGC1A	4	23815630	Silent	SNP	T	TCGA-HT-8563-01A-11D-2395-08	18353738	23815630	167338646	10	29261											
MPP7	143098	broad.mit.edu	37	10	28414006	28414006	+	Silent	SNP	C	C	T			TCGA-HT-8563-01A-11D-2395-08	TCGA-HT-8563-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1bab17-40da-40e8-9739-c360d082f6bd	fde28c63-fec0-4e41-a02d-54bbb121fbc9	g.chr10:28414006C>T	ENST00000337532.5	-	8	738	c.462G>A	c.(460-462)aaG>aaA	p.K154K	MPP7_ENST00000375719.3_Silent_p.K154K|MPP7_ENST00000540098.1_Silent_p.K154K|MPP7_ENST00000445954.2_Silent_p.K29K|MPP7_ENST00000375732.1_Silent_p.K154K|MPP7_ENST00000481244.1_5'UTR	NM_173496.3	NP_775767.2	Q5T2T1	MPP7_HUMAN	membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7)	154	PDZ.				establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly	MPP7-DLG1-LIN7 complex|tight junction	protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	22						GTTCATCCTTCTTAATGGTAG	0.403													7	114					0	0	1	0	0	T	28414006	C	T	28414006	2	4	308	1	0	0	0	0	0	0	0	1	9788	912	32	2		2	MPP7	10	28414006	Silent	SNP	C	TCGA-HT-8563-01A-11D-2395-08		28414006	107120741	11	29262											
OR5AN1	390195	broad.mit.edu	37	11	59132063	59132063	+	Silent	SNP	C	C	T			TCGA-HT-8563-01A-11D-2395-08	TCGA-HT-8563-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1bab17-40da-40e8-9739-c360d082f6bd	fde28c63-fec0-4e41-a02d-54bbb121fbc9	g.chr11:59132063C>T	ENST00000313940.2	+	1	179	c.132C>T	c.(130-132)ctC>ctT	p.L44L		NM_001004729.1	NP_001004729.1	Q8NGI8	O5AN1_HUMAN	olfactory receptor, family 5, subfamily AN, member 1	44					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	21						CCTGGAACCTCTCCCTCATTG	0.428													49	182					0	0	1	0	0	T	59132063	C	T	59132063	2	4	308	1	0	0	0	0	0	0	0	1	11190	900	32	2		2	OR5AN1	11	59132063	Silent	SNP	C	TCGA-HT-8563-01A-11D-2395-08		59132063	75874453	12	29263											
MYO7A	4647	broad.mit.edu	37	11	76877199	76877199	+	Missense_Mutation	SNP	T	T	A			TCGA-HT-8563-01A-11D-2395-08	TCGA-HT-8563-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1bab17-40da-40e8-9739-c360d082f6bd	fde28c63-fec0-4e41-a02d-54bbb121fbc9	g.chr11:76877199T>A	ENST00000409709.3	+	15	2060	c.1788T>A	c.(1786-1788)gaT>gaA	p.D596E	MYO7A_ENST00000409619.2_Missense_Mutation_p.D585E|MYO7A_ENST00000409893.1_Missense_Mutation_p.D596E|MYO7A_ENST00000458637.2_Missense_Mutation_p.D596E	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	596	Myosin head-like.				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						TCCAGGCCGATGTCGCCATGG	0.587													12	38					0	0	1	0	0	A	76877199	T	A	76877199	3	1	308	1	0	0	0	0	1	0	0	0	10130	1461	51	4	1842	4	MYO7A	11	76877199	Missense_Mutation	SNP	T	TCGA-HT-8563-01A-11D-2395-08	17745136	76877199	58129317	13	29264											
LRRIQ1	84125	broad.mit.edu	37	12	85518292	85518292	+	Silent	SNP	A	A	G			TCGA-HT-8563-01A-11D-2395-08	TCGA-HT-8563-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1bab17-40da-40e8-9739-c360d082f6bd	fde28c63-fec0-4e41-a02d-54bbb121fbc9	g.chr12:85518292A>G	ENST00000393217.2	+	17	4063	c.4002A>G	c.(4000-4002)gaA>gaG	p.E1334E		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	1334										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		AGCCTAGTGAAAAAATGTAAG	0.323													50	93					0	0	1	0	0	G	85518292	A	G	85518292	2	3	308	1	0	0	0	0	0	0	0	1	9074	11	1	3		3	LRRIQ1	12	85518292	Silent	SNP	A	TCGA-HT-8563-01A-11D-2395-08		85518292	48333603	14	29265											
KSR2	283455	broad.mit.edu	37	12	118199044	118199044	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8563-01A-11D-2395-08	TCGA-HT-8563-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1bab17-40da-40e8-9739-c360d082f6bd	fde28c63-fec0-4e41-a02d-54bbb121fbc9	g.chr12:118199044C>T	ENST00000425217.1	-	4	725	c.671G>A	c.(670-672)cGg>cAg	p.R224Q	KSR2_ENST00000339824.5_Missense_Mutation_p.R253Q	NM_173598.4	NP_775869.3	Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	253	Pro-rich.				intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GTGCCGCTGCCGGGGCGATGG	0.716													83	102					0	0	1	0	0	T	118199044	C	T	118199044	3	4	308	1	0	0	0	0	1	0	0	0	8621	652	23	1	2162	1	KSR2	12	118199044	Missense_Mutation	SNP	C	TCGA-HT-8563-01A-11D-2395-08	32680752	118199044	15652851	15	29266											
ANAPC5	51433	broad.mit.edu	37	12	121790075	121790075	+	Silent	SNP	C	C	G			TCGA-HT-8563-01A-11D-2395-08	TCGA-HT-8563-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1bab17-40da-40e8-9739-c360d082f6bd	fde28c63-fec0-4e41-a02d-54bbb121fbc9	g.chr12:121790075C>G	ENST00000261819.3	-	1	190	c.69G>C	c.(67-69)gtG>gtC	p.V23V	ANAPC5_ENST00000541887.1_Silent_p.V23V	NM_016237.4	NP_057321.2	Q9UJX4	APC5_HUMAN	anaphase promoting complex subunit 5	23					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding|ubiquitin-protein ligase activity			breast(6)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(3)	31	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					TGATGCCGAACACATTGGCGT	0.632													17	84					0	0	1	0	0	G	121790075	C	G	121790075	2	3	308	1	0	0	0	0	0	0	0	1	601	465	17	5		5	ANAPC5	12	121790075	Silent	SNP	C	TCGA-HT-8563-01A-11D-2395-08	3591031	121790075	12061820	16	29267											
KDM2B	84678	broad.mit.edu	37	12	122012481	122012481	+	Missense_Mutation	SNP	A	A	C			TCGA-HT-8563-01A-11D-2395-08	TCGA-HT-8563-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1bab17-40da-40e8-9739-c360d082f6bd	fde28c63-fec0-4e41-a02d-54bbb121fbc9	g.chr12:122012481A>C	ENST00000377069.4	-	4	681	c.275T>G	c.(274-276)tTc>tGc	p.F92C	KDM2B_ENST00000538046.2_Missense_Mutation_p.F123C|KDM2B_ENST00000377071.4_Missense_Mutation_p.F123C|KDM2B_ENST00000536437.1_Missense_Mutation_p.F6C	NM_001005366.1	NP_001005366.1	Q8NHM5	KDM2B_HUMAN	lysine (K)-specific demethylase 2B	123					embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						TCGGACTGTGAAATCAGGGTC	0.567													31	81					0	0	1	0	0	C	122012481	A	C	122012481	3	2	308	1	0	0	0	0	1	0	0	0	8169	246	9	5	3774	5	KDM2B	12	122012481	Missense_Mutation	SNP	A	TCGA-HT-8563-01A-11D-2395-08	222406	122012481	11839414	17	29268											
SOS2	6655	broad.mit.edu	37	14	50655245	50655245	+	Missense_Mutation	SNP	A	A	C			TCGA-HT-8563-01A-11D-2395-08	TCGA-HT-8563-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1bab17-40da-40e8-9739-c360d082f6bd	fde28c63-fec0-4e41-a02d-54bbb121fbc9	g.chr14:50655245A>C	ENST00000216373.5	-	5	958	c.684T>G	c.(682-684)ttT>ttG	p.F228L	SOS2_ENST00000543680.1_Missense_Mutation_p.F228L	NM_006939.2	NP_008870.2	Q07890	SOS2_HUMAN	son of sevenless homolog 2 (Drosophila)	228	DH.				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	DNA binding|protein binding|Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1)	39	all_epithelial(31;0.000822)|Breast(41;0.0065)					TATCAGAAAGAAAGGCTTCTC	0.338													11	56					0	0	1	0	0	C	50655245	A	C	50655245	3	2	308	1	0	0	0	0	1	0	0	0	14991	243	9	5	3390	5	SOS2	14	50655245	Missense_Mutation	SNP	A	TCGA-HT-8563-01A-11D-2395-08		50655245	56694295	18	29269											
TSC2	7249	broad.mit.edu	37	16	2122981	2122981	+	Missense_Mutation	SNP	A	A	C			TCGA-HT-8563-01A-11D-2395-08	TCGA-HT-8563-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1bab17-40da-40e8-9739-c360d082f6bd	fde28c63-fec0-4e41-a02d-54bbb121fbc9	g.chr16:2122981A>C	ENST00000219476.3	+	21	2982	c.2352A>C	c.(2350-2352)aaA>aaC	p.K784N	TSC2_ENST00000401874.2_Missense_Mutation_p.K784N|TSC2_ENST00000350773.4_Missense_Mutation_p.K784N|TSC2_ENST00000382538.6_Missense_Mutation_p.K735N|TSC2_ENST00000439673.2_Missense_Mutation_p.K747N|TSC2_ENST00000353929.4_Missense_Mutation_p.K784N|TSC2_ENST00000568454.1_Missense_Mutation_p.K795N	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	784					cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex	GTPase activator activity|protein homodimerization activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				ACAAAACCAAACAGGTAGGAG	0.547			"D, Mis, N, F, S"			"hamartoma, renal cell"			Tuberous Sclerosis				12	45					0	0	1	0	0	C	2122981	A	C	2122981	3	2	308	1	0	0	0	0	1	0	0	0	16667	40	2	5	2430	5	TSC2	16	2122981	Missense_Mutation	SNP	A	TCGA-HT-8563-01A-11D-2395-08		2122981	88231772	19	29270											
ACSM2A	123876	broad.mit.edu	37	16	20492162	20492162	+	Silent	SNP	G	G	A			TCGA-HT-8563-01A-11D-2395-08	TCGA-HT-8563-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1bab17-40da-40e8-9739-c360d082f6bd	fde28c63-fec0-4e41-a02d-54bbb121fbc9	g.chr16:20492162G>A	ENST00000573854.1	+	12	1542	c.1428G>A	c.(1426-1428)tcG>tcA	p.S476S	ACSM2A_ENST00000536134.1_Silent_p.S248S|ACSM2A_ENST00000219054.6_Silent_p.S476S|ACSM2A_ENST00000575690.1_Silent_p.S476S|ACSM2A_ENST00000575558.1_3'UTR|ACSM2A_ENST00000396104.2_Silent_p.S476S|ACSM2A_ENST00000417235.2_Silent_p.S397S	NM_001010845.2	NP_001010845	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A	476					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						TTGGACCCTCGGAGGTAGAGA	0.567													23	95					0	0	1	0	0	A	20492162	G	A	20492162	2	1	308	1	0	0	0	0	0	0	0	1	183	1103	39	1		1	ACSM2A	16	20492162	Silent	SNP	G	TCGA-HT-8563-01A-11D-2395-08	18369181	20492162	69862591	20	29271											
POLR2C	5432	broad.mit.edu	37	16	57504925	57504925	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-8563-01A-11D-2395-08	TCGA-HT-8563-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1bab17-40da-40e8-9739-c360d082f6bd	fde28c63-fec0-4e41-a02d-54bbb121fbc9	g.chr16:57504925C>G	ENST00000219252.5	+	9	1060	c.722C>G	c.(721-723)cCt>cGt	p.P241R		NM_032940.2	NP_116558.1	P19387	RPB3_HUMAN	polymerase (RNA) II (DNA directed) polypeptide C, 33kDa	241					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|protein dimerization activity			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(2)|upper_aerodigestive_tract(1)	10						TCTCTGCGTCCTGAAACCATT	0.512													6	108					0	0	1	0	0	G	57504925	C	G	57504925	3	3	308	1	0	0	0	0	1	0	0	0	12264	681	24	4	756	4	POLR2C	16	57504925	Missense_Mutation	SNP	C	TCGA-HT-8563-01A-11D-2395-08	37012763	57504925	32849828	21	29272											
CCDC135	84229	broad.mit.edu	37	16	57741426	57741426	+	Missense_Mutation	SNP	G	G	A	rs114224823	byFrequency	TCGA-HT-8563-01A-11D-2395-08	TCGA-HT-8563-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1bab17-40da-40e8-9739-c360d082f6bd	fde28c63-fec0-4e41-a02d-54bbb121fbc9	g.chr16:57741426G>A	ENST00000360716.3	+	8	1134	c.913G>A	c.(913-915)Gtc>Atc	p.V305I	CCDC135_ENST00000336825.8_Missense_Mutation_p.V240I|CCDC135_ENST00000394337.4_Missense_Mutation_p.V305I			Q8IY82	CC135_HUMAN	coiled-coil domain containing 135	305						cytoplasm				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						GCACTCCTGGGTCCTTGTGCT	0.592													4	64					0	0	1	0	0	A	57741426	G	A	57741426	3	1	308	1	0	0	0	0	1	0	0	0	2787	1261	44	2	935	2	CCDC135	16	57741426	Missense_Mutation	SNP	G	TCGA-HT-8563-01A-11D-2395-08	236501	57741426	32613327	22	29273											
FAM65A	79567	broad.mit.edu	37	16	67578714	67578714	+	Silent	SNP	G	G	A	rs146173403		TCGA-HT-8563-01A-11D-2395-08	TCGA-HT-8563-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1bab17-40da-40e8-9739-c360d082f6bd	fde28c63-fec0-4e41-a02d-54bbb121fbc9	g.chr16:67578714G>A	ENST00000540839.3	+	17	3127	c.2907G>A	c.(2905-2907)ccG>ccA	p.P969P	FAM65A_ENST00000042381.4_Silent_p.P950P|FAM65A_ENST00000422602.2_Silent_p.P970P|FAM65A_ENST00000379312.3_Silent_p.P954P|FAM65A_ENST00000428437.2_Silent_p.P964P			Q6ZS17	FA65A_HUMAN	family with sequence similarity 65, member A	954						cytoplasm	binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)		GGGAGATCCCGGCCAGCTCTG	0.652													31	99					0	0	1	0	0	A	67578714	G	A	67578714	2	1	308	1	0	0	0	0	0	0	0	1	5634	1103	39	1		1	FAM65A	16	67578714	Silent	SNP	G	TCGA-HT-8563-01A-11D-2395-08	9837288	67578714	22776039	23	29274											
TP53	7157	broad.mit.edu	37	17	7577538	7577538	+	Missense_Mutation	SNP	C	C	T	rs11540652		TCGA-HT-8563-01A-11D-2395-08	TCGA-HT-8563-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1bab17-40da-40e8-9739-c360d082f6bd	fde28c63-fec0-4e41-a02d-54bbb121fbc9	g.chr17:7577538C>T	ENST00000420246.2	-	7	875	c.743G>A	c.(742-744)cGg>cAg	p.R248Q	TP53_ENST00000455263.2_Missense_Mutation_p.R248Q|TP53_ENST00000269305.4_Missense_Mutation_p.R248Q|TP53_ENST00000445888.2_Missense_Mutation_p.R248Q|TP53_ENST00000413465.2_Missense_Mutation_p.R248Q|TP53_ENST00000359597.4_Missense_Mutation_p.R248Q	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	248	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R248Q(580)|p.R248L(75)|p.R248P(19)|p.R155Q(18)|p.0?(8)|p.?(5)|p.R155L(3)|p.R155P(2)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248fs*>39(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(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)		GATGGGCCTCCGGTTCATGCC	0.572	R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	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)			12	66					0	0	1	0	0	T	7577538	C	T	7577538	3	4	308	1	0	0	0	0	1	0	0	0	16442	652	23	1	547	1	TP53	17	7577538	Missense_Mutation	SNP	C	TCGA-HT-8563-01A-11D-2395-08		7577538	73617672	24	29275											
TP53	7157	broad.mit.edu	37	17	7578475	7578475	+	Missense_Mutation	SNP	G	G	T	rs137852790		TCGA-HT-8563-01A-11D-2395-08	TCGA-HT-8563-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1bab17-40da-40e8-9739-c360d082f6bd	fde28c63-fec0-4e41-a02d-54bbb121fbc9	g.chr17:7578475G>T	ENST00000420246.2	-	5	587	c.455C>A	c.(454-456)cCg>cAg	p.P152Q	TP53_ENST00000455263.2_Missense_Mutation_p.P152Q|TP53_ENST00000269305.4_Missense_Mutation_p.P152Q|TP53_ENST00000445888.2_Missense_Mutation_p.P152Q|TP53_ENST00000413465.2_Missense_Mutation_p.P152Q|TP53_ENST00000359597.4_Missense_Mutation_p.P152Q	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	152	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		P -> A (in sporadic cancers; somatic mutation).|P -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|P -> Q (in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> S (in sporadic cancers; somatic mutation).|P -> T (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.P152L(66)|p.P152R(8)|p.0?(8)|p.T150fs*16(6)|p.?(5)|p.P153fs*28(5)|p.P152fs*18(5)|p.P152fs*14(5)|p.P152Q(4)|p.P59L(2)|p.P20L(2)|p.P153fs*16(1)|p.P151_V173del23(1)|p.P152_P153del(1)|p.P59R(1)|p.P20R(1)|p.P152fs*28(1)|p.T57fs*16(1)|p.D148_T155delDSTPPPGT(1)|p.T150_P153delTPPP(1)|p.D148fs*23(1)|p.S149fs*72(1)|p.S149fs*17(1)|p.P152fs*27(1)|p.Q144_G154del11(1)|p.Q144fs*16(1)|p.T18fs*16(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GGTGCCGGGCGGGGGTGTGGA	0.612		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)			19	59					2.94398e-08	3.04728e-08	1	1	0	T	7578475	G	T	7578475	3	4	308	1	0	0	0	0	1	0	0	0	16442	1116	39	5	843	5	TP53	17	7578475	Missense_Mutation	SNP	G	TCGA-HT-8563-01A-11D-2395-08	937	7578475	73616735	25	29276											
TMEM104	54868	broad.mit.edu	37	17	72832811	72832811	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-8563-01A-11D-2395-08	TCGA-HT-8563-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1bab17-40da-40e8-9739-c360d082f6bd	fde28c63-fec0-4e41-a02d-54bbb121fbc9	g.chr17:72832811C>G	ENST00000335464.5	+	10	1638	c.1476C>G	c.(1474-1476)agC>agG	p.S492R	TMEM104_ENST00000582773.1_Intron|TMEM104_ENST00000417024.2_Intron|TMEM104_ENST00000582330.1_Missense_Mutation_p.S492R	NM_017728.3	NP_060198.3	Q8NE00	TM104_HUMAN	transmembrane protein 104	492						integral to membrane				NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(5)|ovary(1)	19	all_lung(278;0.23)					TCATCCTCAGCGAGACCAAGC	0.602													14	41					0	0	1	0	0	G	72832811	C	G	72832811	3	3	308	1	0	0	0	0	1	0	0	0	16078	767	27	5	1510	5	TMEM104	17	72832811	Missense_Mutation	SNP	C	TCGA-HT-8563-01A-11D-2395-08	65254336	72832811	8362399	26	29277											
DERL3	91319	broad.mit.edu	37	22	24179853	24179853	+	Silent	SNP	G	G	A			TCGA-HT-8563-01A-11D-2395-08	TCGA-HT-8563-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1bab17-40da-40e8-9739-c360d082f6bd	fde28c63-fec0-4e41-a02d-54bbb121fbc9	g.chr22:24179853G>A	ENST00000406855.3	-	5	534	c.516C>T	c.(514-516)gaC>gaT	p.D172D	DERL3_ENST00000318109.7_Silent_p.D172D|DERL3_ENST00000476077.1_Silent_p.D172D|DERL3_ENST00000404056.1_Intron	NM_001002862.2|NM_001135751.1|NM_198440.3	NP_001002862.1|NP_001129223.1|NP_940842.2	Q96Q80	DERL3_HUMAN	derlin 3	172					endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process	integral to endoplasmic reticulum membrane	protein binding			ovary(1)|prostate(1)|skin(1)	3						CACCCAGCAGGTCCACGAGGA	0.642													8	30					0	0	1	0	0	A	24179853	G	A	24179853	2	1	308	1	0	0	0	0	0	0	0	1	4476	1252	44	2		2	DERL3	22	24179853	Silent	SNP	G	TCGA-HT-8563-01A-11D-2395-08		24179853	27124713	27	29278											
ATRX	546	broad.mit.edu	37	X	76890195	76890195	+	Splice_Site	SNP	C	C	G			TCGA-HT-8563-01A-11D-2395-08	TCGA-HT-8563-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1bab17-40da-40e8-9739-c360d082f6bd	fde28c63-fec0-4e41-a02d-54bbb121fbc9	g.chrX:76890195C>G	ENST00000373344.5	-	17	4914		c.e17-1		ATRX_ENST00000395603.3_Splice_Site|ATRX_ENST00000480283.1_Splice_Site	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked						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)	AACTGAACACCTAAAAATAAC	0.353			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						35	128					0	0	1	0	0	G	76890195	C	G	76890195	5	3	308	1	0	0	0	0	0	0	1	0	1206	695	24	4	2855	4	ATRX	23	76890195	Splice_Site	SNP	C	TCGA-HT-8563-01A-11D-2395-08		76890195	78380365	28	29279											
GPRASP2	114928	broad.mit.edu	37	X	101970909	101970909	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-8563-01A-11D-2395-08	TCGA-HT-8563-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1bab17-40da-40e8-9739-c360d082f6bd	fde28c63-fec0-4e41-a02d-54bbb121fbc9	g.chrX:101970909A>G	ENST00000543253.1	+	5	2031	c.1112A>G	c.(1111-1113)gAc>gGc	p.D371G	GPRASP2_ENST00000535209.1_Missense_Mutation_p.D371G|GPRASP2_ENST00000332262.5_Missense_Mutation_p.D371G	NM_001004051.3|NM_001184874.2|NM_001184876.2	NP_001004051.1|NP_001171803.1|NP_001171805.1			G protein-coupled receptor associated sorting protein 2											breast(3)|endometrium(5)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	30						AAAGATGTTGACAGTGATAGG	0.483													14	85					0	0	1	0	0	G	101970909	A	G	101970909	3	3	308	1	0	0	0	0	1	0	0	0	6764	275	10	3	1114	3	GPRASP2	23	101970909	Missense_Mutation	SNP	A	TCGA-HT-8563-01A-11D-2395-08	25080714	101970909	53299651	29	29280											
RAB33A	9363	broad.mit.edu	37	X	129318702	129318702	+	Silent	SNP	C	C	G			TCGA-HT-8563-01A-11D-2395-08	TCGA-HT-8563-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1bab17-40da-40e8-9739-c360d082f6bd	fde28c63-fec0-4e41-a02d-54bbb121fbc9	g.chrX:129318702C>G	ENST00000257017.4	+	2	1116	c.702C>G	c.(700-702)tcC>tcG	p.S234S		NM_004794.2	NP_004785.1	Q14088	RB33A_HUMAN	RAB33A, member RAS oncogene family	234					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(5)	11						GTAAAACTTCCTGTCCTTGTT	0.438													5	55					0	0	1	0	0	G	129318702	C	G	129318702	2	3	308	1	0	0	0	0	0	0	0	1	12974	668	24	4		4	RAB33A	23	129318702	Silent	SNP	C	TCGA-HT-8563-01A-11D-2395-08	27347793	129318702	25951858	30	29281											
MAGEC1	9947	broad.mit.edu	37	X	140995062	140995062	+	Silent	SNP	T	T	C			TCGA-HT-8563-01A-11D-2395-08	TCGA-HT-8563-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1bab17-40da-40e8-9739-c360d082f6bd	fde28c63-fec0-4e41-a02d-54bbb121fbc9	g.chrX:140995062T>C	ENST00000285879.4	+	4	2158	c.1872T>C	c.(1870-1872)tcT>tcC	p.S624S	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	624							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TCCAGTCTTCTCTCCAGAGCC	0.567										HNSCC(15;0.026)			142	401					0	0	1	0	0	C	140995062	T	C	140995062	2	2	308	1	0	0	0	0	0	0	0	1	9230	1538	54	3		3	MAGEC1	23	140995062	Silent	SNP	T	TCGA-HT-8563-01A-11D-2395-08	11676360	140995062	14275498	31	29282											
MMEL1	79258	broad.mit.edu	37	1	2541236	2541236	+	Silent	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:2541236C>T	ENST00000288709.6	-	5	540	c.300G>A	c.(298-300)acG>acA	p.T100T	MMEL1_ENST00000378412.3_Silent_p.T109T|MMEL1_ENST00000502556.1_Silent_p.T109T	NM_033467.3	NP_258428.2	Q495T6	MMEL1_HUMAN	membrane metallo-endopeptidase-like 1	109					proteolysis	extracellular region|integral to membrane|intracellular membrane-bounded organelle	metal ion binding|metalloendopeptidase activity			cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1)	27	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)		CACACGGTTCCGTGGTCGGGT	0.602													49	86					0	0	1	0	0	T	2541236	C	T	2541236	2	4	309	1	0	0	0	0	0	0	0	1	9694	639	23	1		1	MMEL1	1	2541236	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08		2541236	246709385	1	29283											
CHD5	26038	broad.mit.edu	37	1	6202326	6202326	+	Silent	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:6202326G>A	ENST00000262450.3	-	15	2397	c.2298C>T	c.(2296-2298)cgC>cgT	p.R766R	CHD5_ENST00000378021.1_5'UTR	NM_015557.2	NP_056372.1	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	766	Helicase ATP-binding.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		TCTCAAACTCGCGTTCCCAGT	0.607													69	106					0	0	1	0	0	A	6202326	G	A	6202326	2	1	309	1	0	0	0	0	0	0	0	1	3350	1074	38	1		1	CHD5	1	6202326	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	3661090	6202326	243048295	2	29284											
ICMT	23463	broad.mit.edu	37	1	6285295	6285295	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:6285295C>T	ENST00000343813.5	-	5	728	c.700G>A	c.(700-702)Gtc>Atc	p.V234I		NM_012405.3	NP_036537.1	O60725	ICMT_HUMAN	isoprenylcysteine carboxyl methyltransferase	234					protein targeting to membrane	endoplasmic reticulum membrane|integral to membrane|membrane fraction	protein C-terminal S-isoprenylcysteine carboxyl O-methyltransferase activity			NS(1)|endometrium(2)	3	Ovarian(185;0.0634)	all_cancers(23;5.85e-39)|all_epithelial(116;2.4e-22)|all_lung(118;2.65e-08)|Lung NSC(185;6.45e-07)|all_neural(13;3.18e-06)|all_hematologic(16;8.99e-06)|Acute lymphoblastic leukemia(12;0.000365)|Breast(487;0.000688)|Renal(390;0.0007)|Colorectal(325;0.00104)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)|Medulloblastoma(700;0.211)		Epithelial(90;5.52e-38)|GBM - Glioblastoma multiforme(13;6.51e-32)|OV - Ovarian serous cystadenocarcinoma(86;3.03e-19)|Colorectal(212;7.08e-08)|COAD - Colon adenocarcinoma(227;8.35e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(365;0.00109)|STAD - Stomach adenocarcinoma(132;0.00313)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.182)		GCATAGCTGACGCCGCAGATG	0.517													44	84					0	0	1	0	0	T	6285295	C	T	6285295	3	4	309	1	0	0	0	0	1	0	0	0	7529	536	19	1	158	1	ICMT	1	6285295	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	82969	6285295	242965326	3	29285											
ZBTB48	3104	broad.mit.edu	37	1	6647351	6647354	+	Splice_Site	DEL	AGTA	AGTA	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:6647351_6647354delAGTA	ENST00000377674.4	+	6	1382	c.1224delAGTA	c.(1222-1224)gca>gc	p.A408fs		NM_001278647.1|NM_001278648.1|NM_005341.2	NP_001265576.1|NP_001265577.1|NP_005332.1	P10074	ZBT48_HUMAN	zinc finger and BTB domain containing 48	408						cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	11	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;7.39e-28)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;1.35e-07)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(304;0.00109)|STAD - Stomach adenocarcinoma(132;0.017)|READ - Rectum adenocarcinoma(331;0.0642)		AGCCCCATGCAGTAAGTGACAGGG	0.564													9	66	---	---	---	---						-	6647354	AGTA	-	6647351	8	5	309	1	0	1	0	1	0	0	1	0	17608	202	7	0	1242	0	ZBTB48	1	6647351	Splice_Site	DEL	AGTA	TCGA-HT-8564-01A-11D-2395-08	362056	6647351	242603270	4	29286											
PHF13	148479	broad.mit.edu	37	1	6680127	6680128	+	Frame_Shift_Ins	INS	-	-	G			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:6680127_6680128insG	ENST00000377648.4	+	3	788_789	c.406_407insG	c.(406-408)aggfs	p.R136fs	PHF13_ENST00000495385.1_Intron	NM_153812.2	NP_722519.2	Q86YI8	PHF13_HUMAN	PHD finger protein 13	136					cell division|chromatin modification|mitotic chromosome condensation	nucleoplasm	chromatin binding|methylated histone residue binding|zinc ion binding			endometrium(3)|large_intestine(1)|lung(3)	7	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;1.46e-33)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.19e-07)|COAD - Colon adenocarcinoma(227;1.3e-05)|Kidney(185;4.88e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000501)|KIRC - Kidney renal clear cell carcinoma(229;0.000871)|STAD - Stomach adenocarcinoma(132;0.0165)|READ - Rectum adenocarcinoma(331;0.0642)		AGAGGGGTACAGGGGGGGCTTG	0.604													17	153	---	---	---	---						G	6680128	-	G	6680127	7	5	309	1	0	1	1	0	0	0	0	0	11872	179	7	0	416	0	PHF13	1	6680127	Frame_Shift_Ins	INS	-	TCGA-HT-8564-01A-11D-2395-08	32776	6680127	242570494	5	29287											
DNAJC11	55735	broad.mit.edu	37	1	6697342	6697342	+	Silent	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:6697342G>A	ENST00000377577.5	-	14	1563	c.1440C>T	c.(1438-1440)agC>agT	p.S480S	DNAJC11_ENST00000294401.7_Silent_p.S428S|DNAJC11_ENST00000465508.1_5'UTR|DNAJC11_ENST00000349363.6_Intron|DNAJC11_ENST00000542246.1_Silent_p.S442S|DNAJC11_ENST00000377573.5_Silent_p.S390S	NM_018198.3	NP_060668.2	Q9NVH1	DJC11_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 11	480					protein folding		heat shock protein binding|unfolded protein binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)|urinary_tract(1)	32	Ovarian(185;0.0265)|all_lung(157;0.154)	all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649)		TCACCTTCTCGCTCTTCCTGC	0.567													68	143					0	0	1	0	0	A	6697342	G	A	6697342	2	1	309	1	0	0	0	0	0	0	0	1	4657	1078	38	1		1	DNAJC11	1	6697342	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	17215	6697342	242553279	6	29288											
RERE	473	broad.mit.edu	37	1	8674675	8674675	+	Missense_Mutation	SNP	G	G	A	rs142313428		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:8674675G>A	ENST00000337907.3	-	5	1101	c.467C>T	c.(466-468)cCg>cTg	p.P156L	RERE_ENST00000400907.2_Missense_Mutation_p.P156L|RERE_ENST00000400908.2_Missense_Mutation_p.P156L	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	156	BAH.				multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		TGATGCCACCGGCAGAGAGCA	0.488													44	168					0	0	1	0	0	A	8674675	G	A	8674675	3	1	309	1	0	0	0	0	1	0	0	0	13283	1116	39	1	4313	1	RERE	1	8674675	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	1977333	8674675	240575946	7	29289											
DNAJC16	23341	broad.mit.edu	37	1	15874846	15874846	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:15874846C>T	ENST00000375847.3	+	7	1110	c.946C>T	c.(946-948)Cgg>Tgg	p.R316W	DNAJC16_ENST00000375849.1_Missense_Mutation_p.R316W|DNAJC16_ENST00000375838.1_Missense_Mutation_p.R316W	NM_015291.2	NP_056106.1	Q9Y2G8	DJC16_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 16	316					cell redox homeostasis|protein folding	integral to membrane	heat shock protein binding|unfolded protein binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(7)|urinary_tract(1)	18		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00173)|all_lung(284;0.00459)|Lung NSC(340;0.00499)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)		GATGACAAGGCGGTACAACAT	0.428													34	43					0	0	1	0	0	T	15874846	C	T	15874846	3	4	309	1	0	0	0	0	1	0	0	0	4662	759	27	1	968	1	DNAJC16	1	15874846	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	7200171	15874846	233375775	8	29290											
SPEN	23013	broad.mit.edu	37	1	16202978	16202978	+	Missense_Mutation	SNP	G	G	A	rs139125517		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:16202978G>A	ENST00000375759.3	+	3	890	c.686G>A	c.(685-687)cGa>cAa	p.R229Q	SPEN_ENST00000471538.1_3'UTR	NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	229	Arg-rich.				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		CGGGAGGTACGAGGCAGAAGG	0.542													45	95					0	0	1	0	0	A	16202978	G	A	16202978	3	1	309	1	0	0	0	0	1	0	0	0	15094	1058	37	1	696	1	SPEN	1	16202978	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	328132	16202978	233047643	9	29291											
UBR4	23352	broad.mit.edu	37	1	19501461	19501461	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:19501461C>T	ENST00000375267.2	-	21	2843	c.2840G>A	c.(2839-2841)cGa>cAa	p.R947Q	UBR4_ENST00000375217.2_Missense_Mutation_p.R947Q|UBR4_ENST00000375226.2_Missense_Mutation_p.R947Q|UBR4_ENST00000375254.3_Missense_Mutation_p.R947Q			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	947					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		AGAATCAAGTCGGTTCAAATC	0.438													51	103					0	0	1	0	0	T	19501461	C	T	19501461	3	4	309	1	0	0	0	0	1	0	0	0	16965	884	31	1	13055	1	UBR4	1	19501461	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	3298483	19501461	229749160	10	29292											
HSPG2	3339	broad.mit.edu	37	1	22166340	22166340	+	Silent	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:22166340C>T	ENST00000374695.3	-	72	9763	c.9684G>A	c.(9682-9684)acG>acA	p.T3228T		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	3228	Ig-like C2-type 18.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	GCAAGGTGGCCGTGTGTCCAG	0.627													84	102					0	0	1	0	0	T	22166340	C	T	22166340	2	4	309	1	0	0	0	0	0	0	0	1	7474	639	23	1		1	HSPG2	1	22166340	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	2664879	22166340	227084281	11	29293											
HSPG2	3339	broad.mit.edu	37	1	22168798	22168798	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:22168798C>T	ENST00000374695.3	-	68	9065	c.8986G>A	c.(8986-8988)Ggc>Agc	p.G2996S		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	2996	Ig-like C2-type 15.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	GGGCCTGGGCCGCTGGCTGCA	0.642													12	63					0	0	1	0	0	T	22168798	C	T	22168798	3	4	309	1	0	0	0	0	1	0	0	0	7474	652	23	1	4309	1	HSPG2	1	22168798	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	2458	22168798	227081823	12	29294											
KDM1A	23028	broad.mit.edu	37	1	23405541	23405541	+	Silent	SNP	C	C	T	rs145299191		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:23405541C>T	ENST00000400181.4	+	17	2030	c.1926C>T	c.(1924-1926)tgC>tgT	p.C642C	RP1-184J9.2_ENST00000427154.1_RNA|KDM1A_ENST00000542151.1_Silent_p.C642C|KDM1A_ENST00000356634.3_Silent_p.C618C	NM_001009999.2	NP_001009999.1	O60341	KDM1A_HUMAN	lysine (K)-specific demethylase 1A	618	Demethylase activity.				blood coagulation|muscle cell development|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of protein binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nuclear chromatin	androgen receptor binding|chromatin binding|enzyme binding|flavin adenine dinucleotide binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-K9 specific)|ligand-dependent nuclear receptor transcription coactivator activity|MyoD binding|oxidoreductase activity|p53 binding|transcription regulatory region DNA binding			breast(2)|central_nervous_system(2)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						TTTATAAATGCGACGCAGTTC	0.507													38	204					0	0	1	0	0	T	23405541	C	T	23405541	2	4	309	1	0	0	0	0	0	0	0	1	8166	776	27	1		1	KDM1A	1	23405541	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	1236743	23405541	225845080	13	29295											
HTR1D	3352	broad.mit.edu	37	1	23519885	23519885	+	Silent	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:23519885G>A	ENST00000374619.1	-	1	1337	c.828C>T	c.(826-828)caC>caT	p.H276H	HTR1D_ENST00000314113.3_Silent_p.H276H	NM_000864.4	NP_000855.1	P28221	5HT1D_HUMAN	5-hydroxytryptamine (serotonin) receptor 1D, G protein-coupled	276					G-protein signaling, coupled to cyclic nucleotide second messenger|intestine smooth muscle contraction|synaptic transmission	integral to plasma membrane	serotonin receptor activity			NS(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000779)|all_lung(284;0.00135)|Breast(348;0.0385)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0561)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;4.69e-27)|Colorectal(126;4.86e-08)|COAD - Colon adenocarcinoma(152;2.86e-06)|GBM - Glioblastoma multiforme(114;0.00012)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(1967;0.00122)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.083)|LUSC - Lung squamous cell carcinoma(448;0.185)	Almotriptan(DB00918)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Tegaserod(DB01079)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	TGATTTTCACGTGGTTGAAAA	0.567													83	103					0	0	1	0	0	A	23519885	G	A	23519885	2	1	309	1	0	0	0	0	0	0	0	1	7482	1136	40	1		1	HTR1D	1	23519885	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	114344	23519885	225730736	14	29296											
CLIC4	25932	broad.mit.edu	37	1	25167273	25167273	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:25167273delA	ENST00000374379.4	+	6	804	c.607delA	c.(607-609)aaafs	p.K204fs		NM_013943.2	NP_039234.1	Q9Y696	CLIC4_HUMAN	chloride intracellular channel 4	204	GST C-terminal.				cellular response to calcium ion|establishment or maintenance of apical/basal cell polarity|keratinocyte differentiation|negative regulation of cell migration|regulation of cytoskeleton organization	actin cytoskeleton|apical part of cell|cell surface|cell-cell junction|centrosome|chloride channel complex|cytoplasmic vesicle membrane|cytosol|microvillus|midbody|mitochondrion|nuclear matrix|perinuclear region of cytoplasm|soluble fraction	voltage-gated chloride channel activity			large_intestine(3)|lung(2)|skin(1)	6		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000778)|all_lung(284;0.00106)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0479)|OV - Ovarian serous cystadenocarcinoma(117;1.06e-24)|Colorectal(126;1.03e-07)|COAD - Colon adenocarcinoma(152;4.93e-06)|STAD - Stomach adenocarcinoma(196;0.000418)|GBM - Glioblastoma multiforme(114;0.000451)|BRCA - Breast invasive adenocarcinoma(304;0.00215)|KIRC - Kidney renal clear cell carcinoma(1967;0.00216)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.18)		GGTGGTGGCCAAAAAATATCG	0.373													63	108	---	---	---	---						-	25167273	A	-	25167273	7	5	309	1	0	1	0	1	0	0	0	0	3551	131	5	0	629	0	CLIC4	1	25167273	Frame_Shift_Del	DEL	A	TCGA-HT-8564-01A-11D-2395-08	1647388	25167273	224083348	15	29297											
EXTL1	2134	broad.mit.edu	37	1	26349416	26349416	+	Silent	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:26349416C>T	ENST00000374280.3	+	1	1146	c.279C>T	c.(277-279)ggC>ggT	p.G93G		NM_004455.2	NP_004446.2	Q92935	EXTL1_HUMAN	exostosin-like glycosyltransferase 1	93					skeletal system development	integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|stomach(1)|urinary_tract(1)	23		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;6.44e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00594)|READ - Rectum adenocarcinoma(331;0.0649)		AGTGCAGGGGCGATGGCCTTA	0.542													26	128					0	0	1	0	0	T	26349416	C	T	26349416	2	4	309	1	0	0	0	0	0	0	0	1	5353	755	27	1		1	EXTL1	1	26349416	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	1182143	26349416	222901205	16	29298											
TRIM63	84676	broad.mit.edu	37	1	26387782	26387782	+	Missense_Mutation	SNP	C	C	T	rs139426966		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:26387782C>T	ENST00000374272.3	-	3	514	c.376G>A	c.(376-378)Gaa>Aaa	p.E126K	TRIM63_ENST00000483052.1_5'UTR	NM_032588.3	NP_115977.2	Q969Q1	TRI63_HUMAN	tripartite motif containing 63, E3 ubiquitin protein ligase	126	Interaction with TTN.					cytoplasm|microtubule|nucleus	ligase activity|signal transducer activity|titin binding|zinc ion binding			kidney(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1)	5		Colorectal(325;3.46e-05)|Lung NSC(340;0.000154)|all_lung(284;0.00021)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;9.15e-26)|Colorectal(126;3.16e-08)|COAD - Colon adenocarcinoma(152;1.72e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000767)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)		TTCTCATCTTCGTGCTCCTTG	0.582													21	77					0	0	1	0	0	T	26387782	C	T	26387782	3	4	309	1	0	0	0	0	1	0	0	0	16599	893	31	1	713	1	TRIM63	1	26387782	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	38366	26387782	222862839	17	29299											
ARID1A	8289	broad.mit.edu	37	1	27088659	27088659	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:27088659delC	ENST00000324856.7	+	7	2639	c.2268delC	c.(2266-2268)aacfs	p.N756fs	ARID1A_ENST00000457599.2_Frame_Shift_Del_p.N756fs|ARID1A_ENST00000374152.2_Frame_Shift_Del_p.N373fs	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	756					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		TGCAGAGGAACCCCCAGATGC	0.512			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"								13	225	---	---	---	---						-	27088659	C	-	27088659	7	5	309	1	0	1	0	1	0	0	0	0	910	506	18	0	2294	0	ARID1A	1	27088659	Frame_Shift_Del	DEL	C	TCGA-HT-8564-01A-11D-2395-08	700877	27088659	222161962	18	29300											
PHC2	1912	broad.mit.edu	37	1	33837953	33837953	+	Silent	SNP	G	G	A	rs145356735		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:33837953G>A	ENST00000257118.5	-	2	323	c.270C>T	c.(268-270)acC>acT	p.T90T	PHC2_ENST00000419414.2_Silent_p.T90T|PHC2_ENST00000373416.1_5'UTR|PHC2_ENST00000431992.1_Silent_p.T90T	NM_198040.2	NP_932157.1	Q8IXK0	PHC2_HUMAN	polyhomeotic homolog 2 (Drosophila)	90	Gln-rich.				multicellular organismal development	PcG protein complex	DNA binding|identical protein binding|zinc ion binding			autonomic_ganglia(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				GGAGCGCCGCGGTCTGCAGCA	0.667													41	58					0	0	1	0	0	A	33837953	G	A	33837953	2	1	309	1	0	0	0	0	0	0	0	1	11865	1103	39	1		1	PHC2	1	33837953	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	6749294	33837953	215412668	19	29301											
CSMD2	114784	broad.mit.edu	37	1	34180250	34180250	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:34180250C>T	ENST00000373381.4	-	21	3519	c.3343G>A	c.(3343-3345)Gcc>Acc	p.A1115T		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1075	CUB 7.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GTGATGCGGGCGGTGCCCTCC	0.632													136	245					0	0	1	0	0	T	34180250	C	T	34180250	3	4	309	1	0	0	0	0	1	0	0	0	3970	768	27	1	7436	1	CSMD2	1	34180250	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	342297	34180250	215070371	20	29302											
DLGAP3	58512	broad.mit.edu	37	1	35365314	35365314	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:35365314delG	ENST00000373347.1	-	5	1610	c.1342delC	c.(1342-1344)cggfs	p.R448fs	DLGAP3_ENST00000235180.4_Frame_Shift_Del_p.R448fs			O95886	DLGP3_HUMAN	discs, large (Drosophila) homolog-associated protein 3	448					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)				ATGGAGCTCCGGGGGTGGATC	0.577													31	205	---	---	---	---						-	35365314	G	-	35365314	7	5	309	1	0	1	0	1	0	0	0	0	4589	1115	39	0	1629	0	DLGAP3	1	35365314	Frame_Shift_Del	DEL	G	TCGA-HT-8564-01A-11D-2395-08	1185064	35365314	213885307	21	29303											
ZNF691	51058	broad.mit.edu	37	1	43317024	43317024	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:43317024G>A	ENST00000372504.1	+	5	811	c.461G>A	c.(460-462)cGg>cAg	p.R154Q	ZNF691_ENST00000372507.1_Missense_Mutation_p.R132Q|ZNF691_ENST00000372508.3_Missense_Mutation_p.R132Q|ZNF691_ENST00000372506.1_Missense_Mutation_p.R132Q|ZNF691_ENST00000397044.3_Missense_Mutation_p.R163Q|ZNF691_ENST00000372502.1_Missense_Mutation_p.R154Q			Q5VV52	ZN691_HUMAN	zinc finger protein 691	163						nucleus	DNA binding|zinc ion binding			large_intestine(2)|lung(2)|ovary(2)|prostate(1)	7	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CGGCACGAGCGGATCCACCTG	0.562													40	62					0	0	1	0	0	A	43317024	G	A	43317024	3	1	309	1	0	0	0	0	1	0	0	0	18152	1116	39	1	397	1	ZNF691	1	43317024	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	7951710	43317024	205933597	22	29304											
TIE1	7075	broad.mit.edu	37	1	43779639	43779639	+	Splice_Site	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:43779639G>A	ENST00000372476.3	+	14	2488	c.2409G>A	c.(2407-2409)tcG>tcA	p.S803S	TIE1_ENST00000473014.1_3'UTR|TIE1_ENST00000433781.2_Splice_Site_p.S448S	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	803					mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				AGTCAGGCTCGGTCAGTGACC	0.577													27	44					0	0	1	0	0	A	43779639	G	A	43779639	5	1	309	1	0	0	0	0	0	0	1	0	15953	1130	39	1	2463	1	TIE1	1	43779639	Splice_Site	SNP	G	TCGA-HT-8564-01A-11D-2395-08	462615	43779639	205470982	23	29305											
PTPRF	5792	broad.mit.edu	37	1	44056971	44056971	+	Silent	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:44056971C>T	ENST00000359947.4	+	9	1618	c.1278C>T	c.(1276-1278)agC>agT	p.S426S	PTPRF_ENST00000372414.3_Silent_p.S426S|PTPRF_ENST00000438120.1_Silent_p.S426S|PTPRF_ENST00000372413.3_Silent_p.S426S	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	426	Fibronectin type-III 2.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GCATGCTGAGCGCCAGCACCA	0.726													6	6					0	0	1	0	0	T	44056971	C	T	44056971	2	4	309	1	0	0	0	0	0	0	0	1	12853	767	27	1		1	PTPRF	1	44056971	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	277332	44056971	205193650	24	29306											
RNF220	55182	broad.mit.edu	37	1	45110396	45110397	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:45110396_45110397delAA	ENST00000355387.2	+	9	1603_1604	c.1153_1154delAA	c.(1153-1155)aaafs	p.K385fs	RNF220_ENST00000361799.2_Frame_Shift_Del_p.K385fs|TMEM53_ENST00000372242.3_Intron|RNF220_ENST00000480686.1_3'UTR|RNF220_ENST00000372247.2_Frame_Shift_Del_p.K385fs|TMEM53_ENST00000372244.3_Intron|RNF220_ENST00000443020.2_Frame_Shift_Del_p.K172fs|TMEM53_ENST00000372243.3_Intron			Q5VTB9	RN220_HUMAN	ring finger protein 220	385					protein autoubiquitination	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding			endometrium(6)|kidney(1)|large_intestine(3)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	29						GTGCAGCGGCAAAGAGAACCCG	0.599													49	115	---	---	---	---						-	45110397	AA	-	45110396	7	5	309	1	0	1	0	1	0	0	0	0	13535	131	5	0	1183	0	RNF220	1	45110396	Frame_Shift_Del	DEL	AA	TCGA-HT-8564-01A-11D-2395-08	1053425	45110396	204140225	25	29307											
RAD54L	8438	broad.mit.edu	37	1	46739410	46739410	+	Missense_Mutation	SNP	G	G	A	rs144207599	byFrequency	TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:46739410G>A	ENST00000371975.4	+	14	2275	c.1601G>A	c.(1600-1602)cGt>cAt	p.R534H	RAD54L_ENST00000442598.1_Missense_Mutation_p.R534H	NM_003579.3	NP_003570.2	Q92698	RAD54_HUMAN	RAD54-like (S. cerevisiae)	534	Helicase C-terminal.		R -> C (in dbSNP:rs28363240).		meiosis	nucleus	ATP binding|DNA binding|helicase activity			breast(2)|cervix(1)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	25	Acute lymphoblastic leukemia(166;0.155)	Breast(1374;0.0634)		KIRC - Kidney renal clear cell carcinoma(1967;0.000896)		AAGCTGTGCCGTGCCCGAAGG	0.512								Direct reversal of damage;Homologous recombination					7	13					0	0	1	0	0	A	46739410	G	A	46739410	3	1	309	1	0	0	0	0	1	0	0	0	13045	1145	40	1	1655	1	RAD54L	1	46739410	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	1629014	46739410	202511211	26	29308											
DMRTB1	63948	broad.mit.edu	37	1	53925205	53925205	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:53925205G>A	ENST00000371445.3	+	1	134	c.79G>A	c.(79-81)Gcg>Acg	p.A27T		NM_033067.1	NP_149056.1	Q96MA1	DMRTB_HUMAN	DMRT-like family B with proline-rich C-terminal, 1	27					sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			large_intestine(3)|lung(5)|ovary(1)|skin(1)	10						CAAGGGACACGCGGGCAAATG	0.612													20	39					0	0	1	0	0	A	53925205	G	A	53925205	3	1	309	1	0	0	0	0	1	0	0	0	4618	1087	38	1	81	1	DMRTB1	1	53925205	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	7185795	53925205	195325416	27	29309											
DHCR24	1718	broad.mit.edu	37	1	55337128	55337128	+	Silent	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:55337128G>A	ENST00000371269.3	-	5	869	c.771C>T	c.(769-771)caC>caT	p.H257H	DHCR24_ENST00000537443.1_Silent_p.H89H|DHCR24_ENST00000535035.1_Silent_p.H216H	NM_014762.3	NP_055577.1	Q15392	DHC24_HUMAN	24-dehydrocholesterol reductase	257					anti-apoptosis|apoptosis|cell cycle arrest|cholesterol biosynthetic process|negative regulation of caspase activity|neuroprotection|response to oxidative stress|skin development	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus	delta24-sterol reductase activity|enzyme binding|flavin adenine dinucleotide binding|peptide antigen binding			large_intestine(2)|liver(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)	7						GCTGGGACTCGTGGGTGAACT	0.592													8	98					0	0	1	0	0	A	55337128	G	A	55337128	2	1	309	1	0	0	0	0	0	0	0	1	4504	1136	40	1		1	DHCR24	1	55337128	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	1411923	55337128	193913493	28	29310											
FAM73A	374986	broad.mit.edu	37	1	78280851	78280851	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:78280851G>A	ENST00000370791.3	+	7	862	c.830G>A	c.(829-831)cGt>cAt	p.R277H	FAM73A_ENST00000443751.2_Missense_Mutation_p.R239H	NM_001270384.1|NM_198549.3	NP_001257313.1|NP_940951.1	Q8NAN2	FA73A_HUMAN	family with sequence similarity 73, member A	277						integral to membrane				breast(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	19				Colorectal(170;0.226)		AGAGCCTATCGTCTCCAAGAG	0.368													9	66					0	0	1	0	0	A	78280851	G	A	78280851	3	1	309	1	0	0	0	0	1	0	0	0	5651	1145	40	1	856	1	FAM73A	1	78280851	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	22943723	78280851	170969770	29	29311											
LPHN2	23266	broad.mit.edu	37	1	82372829	82372829	+	Silent	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:82372829G>A	ENST00000370728.1	+	6	846	c.201G>A	c.(199-201)acG>acA	p.T67T	LPHN2_ENST00000370730.1_Silent_p.T67T|LPHN2_ENST00000370727.1_Silent_p.T67T|LPHN2_ENST00000370725.1_Silent_p.T67T|LPHN2_ENST00000359929.3_Silent_p.T67T|LPHN2_ENST00000319517.6_Silent_p.T67T|LPHN2_ENST00000370715.1_Silent_p.T67T|LPHN2_ENST00000335786.5_Silent_p.T67T|LPHN2_ENST00000370713.1_Silent_p.T67T|LPHN2_ENST00000370717.2_Silent_p.T67T|LPHN2_ENST00000370721.1_Silent_p.T67T|LPHN2_ENST00000394879.1_Silent_p.T67T|LPHN2_ENST00000370723.1_Silent_p.T67T|LPHN2_ENST00000469377.2_3'UTR|LPHN2_ENST00000271029.4_Silent_p.T67T			O95490	LPHN2_HUMAN	latrophilin 2	67	SUEL-type lectin.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		ATGGTCGGACGGATGACAAGA	0.453													7	215					0	0	1	0	0	A	82372829	G	A	82372829	2	1	309	1	0	0	0	0	0	0	0	1	8961	1103	39	1		1	LPHN2	1	82372829	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	4091978	82372829	166877792	30	29312											
LPAR3	23566	broad.mit.edu	37	1	85331490	85331490	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:85331490C>T	ENST00000440886.1	-	1	352	c.314G>A	c.(313-315)cGt>cAt	p.R105H	LPAR3_ENST00000370611.3_Missense_Mutation_p.R105H|LPAR3_ENST00000491034.1_5'UTR			Q9UBY5	LPAR3_HUMAN	lysophosphatidic acid receptor 3	105					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane|intracellular membrane-bounded organelle				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|urinary_tract(1)	24						AAGCCCCTGACGGAGAAACCA	0.502													155	211					0	0	1	0	0	T	85331490	C	T	85331490	3	4	309	1	0	0	0	0	1	0	0	0	8951	536	19	1	755	1	LPAR3	1	85331490	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	2958661	85331490	163919131	31	29313											
ZNF644	84146	broad.mit.edu	37	1	91382483	91382483	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:91382483G>A	ENST00000370440.1	-	6	4073	c.3856C>T	c.(3856-3858)Cga>Tga	p.R1286*	ZNF644_ENST00000467231.1_5'UTR|ZNF644_ENST00000337393.5_Nonsense_Mutation_p.R1286*|ZNF644_ENST00000361321.5_Nonsense_Mutation_p.R64*|ZNF644_ENST00000347275.5_Nonsense_Mutation_p.R64*			Q9H582	ZN644_HUMAN	zinc finger protein 644	1286					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	47		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		ACAATATGTCGTTGTAAGTGC	0.423													27	50					0	0	1	0	0	A	91382483	G	A	91382483	4	1	309	1	0	0	0	0	0	1	0	0	18117	1153	40	1	131	1	ZNF644	1	91382483	Nonsense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	6050993	91382483	157868138	32	29314											
ABCA4	24	broad.mit.edu	37	1	94512531	94512531	+	Silent	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:94512531G>A	ENST00000370225.3	-	19	2948	c.2862C>T	c.(2860-2862)taC>taT	p.Y954Y	ABCA4_ENST00000535735.1_Silent_p.Y880Y	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	954	ABC transporter 1.				phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		TCTGGTTCTCGTAGAAGGTGA	0.552													123	186					0	0	1	0	0	A	94512531	G	A	94512531	2	1	309	1	0	0	0	0	0	0	0	1	34	1140	40	1		1	ABCA4	1	94512531	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	3130048	94512531	154738090	33	29315											
ABCA4	24	broad.mit.edu	37	1	94574157	94574157	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:94574157G>A	ENST00000370225.3	-	4	504	c.418C>T	c.(418-420)Cgg>Tgg	p.R140W	ABCA4_ENST00000535735.1_Missense_Mutation_p.R140W	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	140					phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		GGGTGAGTCCGGAGGGTGTCC	0.493													6	150					0	0	1	0	0	A	94574157	G	A	94574157	3	1	309	1	0	0	0	0	1	0	0	0	34	1115	39	1	6591	1	ABCA4	1	94574157	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	61626	94574157	154676464	34	29316											
ALG14	199857	broad.mit.edu	37	1	95492780	95492780	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:95492780G>A	ENST00000370205.5	-	3	371	c.325C>T	c.(325-327)Cgg>Tgg	p.R109W		NM_144988.3	NP_659425.1	Q96F25	ALG14_HUMAN	ALG14, UDP-N-acetylglucosaminyltransferase subunit						dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity			endometrium(2)|large_intestine(1)|lung(2)|pancreas(1)	6		all_lung(203;0.0232)|Lung NSC(277;0.0739)		all cancers(265;0.0615)|Epithelial(280;0.139)		TGAACCTCCCGGCTTCTTGGA	0.453													31	57					0	0	1	0	0	A	95492780	G	A	95492780	3	1	309	1	0	0	0	0	1	0	0	0	513	1115	39	1	333	1	ALG14	1	95492780	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	918623	95492780	153757841	35	29317											
DBT	1629	broad.mit.edu	37	1	100684291	100684293	+	In_Frame_Del	DEL	TCT	TCT	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:100684291_100684293delTCT	ENST00000370132.4	-	5	457_459	c.444_446delAGA	c.(442-447)gaagat>gat	p.E148del	DBT_ENST00000370131.3_In_Frame_Del_p.E148del	NM_001918.3	NP_001909.3	P11182	ODB2_HUMAN	dihydrolipoamide branched chain transacylase E2						branched chain family amino acid catabolic process|fatty-acyl-CoA biosynthetic process	microtubule cytoskeleton|mitochondrial alpha-ketoglutarate dehydrogenase complex|mitochondrial nucleoid	acyltransferase activity|cofactor binding|dihydrolipoyllysine-residue (2-methylpropanoyl)transferase activity|protein binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(1)	19		all_epithelial(167;5.4e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.0739)|all cancers(265;0.123)|COAD - Colon adenocarcinoma(174;0.154)|Lung(183;0.199)		TTCAACAACATCTTCTTCTGAAT	0.384													69	136	---	---	---	---						-	100684293	TCT	-	100684291	7	5	309	1	0	1	0	1	0	0	0	0	4282	1435	50	0	1030	0	DBT	1	100684291	In_Frame_Del	DEL	TCT	TCGA-HT-8564-01A-11D-2395-08	5191511	100684291	148566330	36	29318											
CELSR2	1952	broad.mit.edu	37	1	109801232	109801232	+	Silent	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:109801232C>T	ENST00000271332.3	+	2	3550	c.3489C>T	c.(3487-3489)caC>caT	p.H1163H		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	1163					dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		CACCGGACCACGTGGTGGTCT	0.716													7	13					0	0	1	0	0	T	109801232	C	T	109801232	2	4	309	1	0	0	0	0	0	0	0	1	3244	535	19	1		1	CELSR2	1	109801232	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	9116941	109801232	139449389	37	29319											
CHIA	27159	broad.mit.edu	37	1	111857960	111857960	+	Missense_Mutation	SNP	G	G	A	rs140031055		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:111857960G>A	ENST00000369740.1	+	6	486	c.383G>A	c.(382-384)cGc>cAc	p.R128H	CHIA_ENST00000353665.6_Intron|CHIA_ENST00000343320.6_Missense_Mutation_p.R128H|CHIA_ENST00000451398.2_5'UTR|CHIA_ENST00000483391.1_Intron|CHIA_ENST00000430615.1_Missense_Mutation_p.R20H	NM_001258001.1|NM_201653.3	NP_001244930.1|NP_970615.2	Q9BZP6	CHIA_HUMAN	chitinase, acidic	128					apoptosis|cell wall chitin metabolic process|chitin catabolic process|digestion|immune response|positive regulation of chemokine secretion|production of molecular mediator involved in inflammatory response|response to acid|response to fungus	cytoplasm|extracellular space	cation binding|chitin binding|chitinase activity|kinase binding|lysozyme activity|sugar binding			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	23		all_cancers(81;3.23e-05)|all_epithelial(167;1.2e-05)|all_lung(203;0.000154)|Lung NSC(277;0.000304)		Colorectal(144;0.0115)|Lung(183;0.0292)|COAD - Colon adenocarcinoma(174;0.0314)|all cancers(265;0.0477)|Epithelial(280;0.0918)|LUSC - Lung squamous cell carcinoma(189;0.154)		AAATTCCTGCGCCAGTATGAG	0.547													86	165					0	0	1	0	0	A	111857960	G	A	111857960	3	1	309	1	0	0	0	0	1	0	0	0	3364	1087	38	1	401	1	CHIA	1	111857960	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	2056728	111857960	137392661	38	29320											
FAM46C	54855	broad.mit.edu	37	1	118166435	118166435	+	Silent	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:118166435C>T	ENST00000369448.3	+	2	1192	c.945C>T	c.(943-945)aaC>aaT	p.N315N		NM_017709.3	NP_060179.2	Q5VWP2	FA46C_HUMAN	family with sequence similarity 46, member C	315										endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	15	Lung SC(450;0.225)	all_cancers(81;0.000101)|all_lung(203;3.4e-06)|all_epithelial(167;4.98e-06)|Lung NSC(69;2.33e-05)		Lung(183;0.0576)|LUSC - Lung squamous cell carcinoma(189;0.192)|Colorectal(144;0.247)		GGGTGGTGAACGAGAGCACCG	0.527			"Mis, F, O"		MM					Multiple Myeloma(3;1.13e-06)			45	62					0	0	1	0	0	T	118166435	C	T	118166435	2	4	309	1	0	0	0	0	0	0	0	1	5603	535	19	1		1	FAM46C	1	118166435	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	6308475	118166435	131084186	39	29321											
ITGA10	8515	broad.mit.edu	37	1	145534934	145534934	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:145534934C>T	ENST00000369304.3	+	15	2012	c.1837C>T	c.(1837-1839)Cga>Tga	p.R613*	ITGA10_ENST00000538811.1_Nonsense_Mutation_p.R482*|ITGA10_ENST00000539363.1_Nonsense_Mutation_p.R470*	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN	integrin, alpha 10	613					cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity			NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CTACTTTGGCCGAAGTGTGGA	0.582													39	194					0	0	1	0	0	T	145534934	C	T	145534934	4	4	309	1	0	0	0	0	0	1	0	0	7917	644	23	1	1895	1	ITGA10	1	145534934	Nonsense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	27368499	145534934	103715687	40	29322											
ANXA9	8416	broad.mit.edu	37	1	150967084	150967084	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:150967084G>A	ENST00000368947.4	+	13	1360	c.884G>A	c.(883-885)cGc>cAc	p.R295H		NM_003568.2	NP_003559.2	O76027	ANXA9_HUMAN	annexin A9	295					cell-cell adhesion	cell surface|cytosol	acetylcholine receptor activity|calcium ion binding|calcium-dependent phospholipid binding|phosphatidylserine binding|protein homodimerization activity			endometrium(1)|large_intestine(1)|lung(4)|skin(2)	8	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			GTCCTGATTCGCATCCTTATC	0.468													117	201					0	0	1	0	0	A	150967084	G	A	150967084	3	1	309	1	0	0	0	0	1	0	0	0	721	1087	38	1	926	1	ANXA9	1	150967084	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	5432150	150967084	98283537	41	29323											
SEMA6C	10500	broad.mit.edu	37	1	151105813	151105813	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:151105813C>T	ENST00000341697.3	-	19	3631	c.1940G>A	c.(1939-1941)cGc>cAc	p.R647H				Q9H3T2	SEM6C_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C	647						integral to membrane	receptor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	28	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			GGAGAGAGGGCGCGGGAGCCC	0.726													11	25					0	0	1	0	0	T	151105813	C	T	151105813	3	4	309	1	0	0	0	0	1	0	0	0	14095	768	27	1	856	1	SEMA6C	1	151105813	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	138729	151105813	98144808	42	29324											
ZNF687	57592	broad.mit.edu	37	1	151261051	151261051	+	Silent	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:151261051C>T	ENST00000368879.2	+	3	2261	c.2163C>T	c.(2161-2163)agC>agT	p.S721S		NM_020832.1	NP_065883.1	Q8N1G0	ZN687_HUMAN	zinc finger protein 687	721					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	32	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GCAGCTTCAGCGCCCACCAGC	0.572													52	116					0	0	1	0	0	T	151261051	C	T	151261051	2	4	309	1	0	0	0	0	0	0	0	1	18148	767	27	1		1	ZNF687	1	151261051	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	155238	151261051	97989570	43	29325											
FLG	2312	broad.mit.edu	37	1	152282395	152282395	+	Missense_Mutation	SNP	C	C	T	rs139975241		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:152282395C>T	ENST00000368799.1	-	3	5002	c.4967G>A	c.(4966-4968)cGt>cAt	p.R1656H	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1656	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTCTGCATGACGAGTGCCTGA	0.567									Ichthyosis				236	448					0	0	1	0	0	T	152282395	C	T	152282395	3	4	309	1	0	0	0	0	1	0	0	0	5955	536	19	1	7222	1	FLG	1	152282395	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	1021344	152282395	96968226	44	29326											
LCE1A	353131	broad.mit.edu	37	1	152800020	152800020	+	Frame_Shift_Del	DEL	C	C	-	rs4990424		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:152800020delC	ENST00000335123.2	+	1	72	c.72delC	c.(70-72)tgcfs	p.C24fs		NM_178348.2	NP_848125.1	Q5T7P2	LCE1A_HUMAN	late cornified envelope 1A	24	Cys-rich.				keratinization					endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)|skin(1)	8	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			ctcccaagtgccccactccta	0.652													41	154	---	---	---	---						-	152800020	C	-	152800020	7	5	309	1	0	1	0	1	0	0	0	0	8698	747	26	0	74	0	LCE1A	1	152800020	Frame_Shift_Del	DEL	C	TCGA-HT-8564-01A-11D-2395-08	517625	152800020	96450601	45	29327											
PGLYRP3	114771	broad.mit.edu	37	1	153276410	153276410	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:153276410G>A	ENST00000290722.1	-	4	504	c.452C>T	c.(451-453)tCg>tTg	p.S151L		NM_052891.1	NP_443123.1	Q96LB9	PGRP3_HUMAN	peptidoglycan recognition protein 3	151					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(1)|liver(1)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	28	all_lung(78;3.35e-32)|Lung NSC(65;1.22e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			ATACCTGGGCGACAGGTGACC	0.552													55	58					0	0	1	0	0	A	153276410	G	A	153276410	3	1	309	1	0	0	0	0	1	0	0	0	11843	1059	37	1	589	1	PGLYRP3	1	153276410	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	476390	153276410	95974211	46	29328											
HCN3	57657	broad.mit.edu	37	1	155258080	155258081	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:155258080_155258081delCT	ENST00000368358.3	+	8	2159_2160	c.2151_2152delCT	c.(2149-2154)ccctctfs	p.S718fs	HCN3_ENST00000496230.1_3'UTR	NM_020897.2	NP_065948.1	Q9P1Z3	HCN3_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 3	718	Pro-rich.					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			CCTCCCAACCCTCTCTGCCTCA	0.698													13	50	---	---	---	---						-	155258081	CT	-	155258080	7	5	309	1	0	1	0	1	0	0	0	0	7039	668	24	0	2181	0	HCN3	1	155258080	Frame_Shift_Del	DEL	CT	TCGA-HT-8564-01A-11D-2395-08	1981670	155258080	93992541	47	29329											
SLAMF8	56833	broad.mit.edu	37	1	159802792	159802792	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:159802792G>A	ENST00000289707.5	+	3	643	c.494G>A	c.(493-495)cGa>cAa	p.R165Q	SLAMF8_ENST00000471286.1_3'UTR|SLAMF8_ENST00000368104.4_Missense_Mutation_p.R56Q	NM_020125.2	NP_064510.1	Q9P0V8	SLAF8_HUMAN	SLAM family member 8	165	Ig-like C2-type.					integral to membrane				endometrium(2)|large_intestine(4)|lung(6)	12	all_hematologic(112;0.0597)					TATAGCTGGCGACGGGAGACA	0.542													26	143					0	0	1	0	0	A	159802792	G	A	159802792	3	1	309	1	0	0	0	0	1	0	0	0	14425	1058	37	1	504	1	SLAMF8	1	159802792	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	4544712	159802792	89447829	48	29330											
DARS2	55157	broad.mit.edu	37	1	173826739	173826739	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:173826739G>A	ENST00000361951.4	+	17	2561	c.1834G>A	c.(1834-1836)Gac>Aac	p.D612N	DARS2_ENST00000239457.5_Missense_Mutation_p.D157N|DARS2_ENST00000471476.1_3'UTR	NM_018122.4	NP_060592.2	Q6PI48	SYDM_HUMAN	aspartyl-tRNA synthetase 2, mitochondrial	612					tRNA aminoacylation for protein translation	mitochondrial matrix|nucleus	aspartate-tRNA ligase activity|ATP binding|nucleic acid binding			breast(4)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|urinary_tract(1)	30					L-Aspartic Acid(DB00128)	CCGGGGACATGACCTCATGAG	0.483													31	122					0	0	1	0	0	A	173826739	G	A	173826739	3	1	309	1	0	0	0	0	1	0	0	0	4266	1290	45	2	1900	2	DARS2	1	173826739	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	14023947	173826739	75423882	49	29331											
TNN	63923	broad.mit.edu	37	1	175097740	175097740	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:175097740G>A	ENST00000239462.4	+	15	3301	c.3188G>A	c.(3187-3189)cGt>cAt	p.R1063H		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	1063	Fibrinogen C-terminal.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		GTTGGTGCCCGTTTCCCACAC	0.527													37	141					0	0	1	0	0	A	175097740	G	A	175097740	3	1	309	1	0	0	0	0	1	0	0	0	16383	1145	40	1	3242	1	TNN	1	175097740	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	1271001	175097740	74152881	50	29332											
SOAT1	6646	broad.mit.edu	37	1	179310292	179310292	+	Silent	SNP	C	C	G			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:179310292C>G	ENST00000367619.3	+	7	770	c.627C>G	c.(625-627)ggC>ggG	p.G209G	SOAT1_ENST00000539888.1_Silent_p.G144G|SOAT1_ENST00000535686.1_5'UTR|SOAT1_ENST00000540564.1_Silent_p.G151G	NM_003101.5	NP_003092.4	P35610	SOAT1_HUMAN	sterol O-acyltransferase 1	209					cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|cholesterol storage|macrophage derived foam cell differentiation|positive regulation of amyloid precursor protein biosynthetic process|very-low-density lipoprotein particle assembly	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol binding|cholesterol O-acyltransferase activity|fatty-acyl-CoA binding			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|stomach(1)	20					Ezetimibe(DB00973)|Hesperetin(DB01094)	GGGCCACTGGCTATAGCAAGA	0.428													98	183					0	0	1	0	0	G	179310292	C	G	179310292	2	3	309	1	0	0	0	0	0	0	0	1	14964	784	28	4		4	SOAT1	1	179310292	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	4212552	179310292	69940329	51	29333											
PTGS2	5743	broad.mit.edu	37	1	186645692	186645692	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:186645692G>A	ENST00000367468.5	-	7	1013	c.877C>T	c.(877-879)Cgg>Tgg	p.R293W	PTGS2_ENST00000490885.2_5'UTR	NM_000963.2	NP_000954.1	P35354	PGH2_HUMAN	prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)	293					cellular component movement|cyclooxygenase pathway|hormone biosynthetic process|positive regulation of brown fat cell differentiation|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of fever generation|positive regulation of fibroblast growth factor production|positive regulation of nitric oxide biosynthetic process|positive regulation of platelet-derived growth factor production|positive regulation of prostaglandin biosynthetic process|positive regulation of transforming growth factor-beta production|positive regulation vascular endothelial growth factor production|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|microsome|neuron projection|nucleus	enzyme binding|heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27					Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Carprofen(DB00821)|Celecoxib(DB00482)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Epoprostenol(DB01240)|Etodolac(DB00749)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Valdecoxib(DB00580)	TTGTGTTCCCGCAGCCAGATT	0.507													70	95					0	0	1	0	0	A	186645692	G	A	186645692	3	1	309	1	0	0	0	0	1	0	0	0	12806	1086	38	1	953	1	PTGS2	1	186645692	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	7335400	186645692	62604929	52	29334											
PTPRC	5788	broad.mit.edu	37	1	198671623	198671623	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:198671623C>T	ENST00000367376.2	+	6	712	c.541C>T	c.(541-543)Cgc>Tgc	p.R181C	PTPRC_ENST00000352140.3_Intron|PTPRC_ENST00000348564.6_Intron|PTPRC_ENST00000442510.2_Missense_Mutation_p.R183C|PTPRC_ENST00000391970.3_3'UTR|PTPRC_ENST00000594404.1_Intron	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	181					axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						CTTACCTGCACGCACCTCCAA	0.498													125	247					0	0	1	0	0	T	198671623	C	T	198671623	3	4	309	1	0	0	0	0	1	0	0	0	12849	536	19	1	570	1	PTPRC	1	198671623	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	12025931	198671623	50578998	53	29335											
IGFN1	91156	broad.mit.edu	37	1	201184276	201184276	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:201184276G>A	ENST00000335211.4	+	14	9119	c.8989G>A	c.(8989-8991)Gtc>Atc	p.V2997I	IGFN1_ENST00000295591.8_Missense_Mutation_p.V157I|IGFN1_ENST00000451870.2_Missense_Mutation_p.V540I	NM_001164586.1	NP_001158058.1			immunoglobulin-like and fibronectin type III domain containing 1											autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						CACCCTGACCGTCCAGGGTAA	0.587													26	37					0	0	1	0	0	A	201184276	G	A	201184276	3	1	309	1	0	0	0	0	1	0	0	0	7634	1145	40	1	9039	1	IGFN1	1	201184276	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	2512653	201184276	48066345	54	29336											
NAV1	89796	broad.mit.edu	37	1	201757608	201757608	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:201757608C>T	ENST00000367296.4	+	10	3428	c.3008C>T	c.(3007-3009)gCg>gTg	p.A1003V	NAV1_ENST00000295624.6_Missense_Mutation_p.A1003V|NAV1_ENST00000367302.1_Intron|NAV1_ENST00000469130.1_3'UTR|NAV1_ENST00000367297.4_Missense_Mutation_p.A1003V|NAV1_ENST00000367300.3_Intron|IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000367295.1_Missense_Mutation_p.A612V	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	1003					cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding			breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						AGTCCCACTGCGGCCACCACG	0.652													12	202					0	0	1	0	0	T	201757608	C	T	201757608	3	4	309	1	0	0	0	0	1	0	0	0	10231	768	27	1	3103	1	NAV1	1	201757608	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	573332	201757608	47493013	55	29337											
ELF3	1999	broad.mit.edu	37	1	201982319	201982319	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:201982319G>A	ENST00000359651.3	+	6	3890	c.698G>A	c.(697-699)cGt>cAt	p.R233H	ELF3_ENST00000367284.5_Missense_Mutation_p.R233H|RP11-510N19.5_ENST00000504773.1_RNA|ELF3_ENST00000367283.3_Missense_Mutation_p.R233H			P78545	ELF3_HUMAN	E74-like factor 3 (ets domain transcription factor, epithelial-specific )	233					epidermis development|epithelial cell differentiation|inflammatory response|mammary gland involution|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	20						GATGGTTTTCGTGACTGCAAG	0.597													44	58					0	0	1	0	0	A	201982319	G	A	201982319	3	1	309	1	0	0	0	0	1	0	0	0	5083	1145	40	1	720	1	ELF3	1	201982319	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	224711	201982319	47268302	56	29338											
ADIPOR1	51094	broad.mit.edu	37	1	202914187	202914187	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:202914187C>T	ENST00000340990.5	-	5	839	c.541G>A	c.(541-543)Gtg>Atg	p.V181M	ADIPOR1_ENST00000367254.3_Intron|ADIPOR1_ENST00000436244.1_Missense_Mutation_p.V181M	NM_015999.4	NP_057083.2	Q96A54	ADR1_HUMAN	adiponectin receptor 1	181					fatty acid oxidation|hormone-mediated signaling pathway	integral to membrane|plasma membrane	hormone binding|protein kinase binding|receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	16			BRCA - Breast invasive adenocarcinoma(75;0.141)			AGGCAGAGCACTGCACCCAAA	0.448													52	77					0	0	1	0	0	T	202914187	C	T	202914187	3	4	309	1	0	0	0	0	1	0	0	0	317	565	20	2	602	2	ADIPOR1	1	202914187	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	931868	202914187	46336434	57	29339											
FMOD	2331	broad.mit.edu	37	1	203311549	203311549	+	Silent	SNP	G	G	A	rs142981560	byFrequency	TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:203311549G>A	ENST00000354955.4	-	3	1516	c.1053C>T	c.(1051-1053)gaC>gaT	p.D351D	FMOD_ENST00000493296.1_5'UTR	NM_002023.4	NP_002014.2	Q06828	FMOD_HUMAN	fibromodulin	351					transforming growth factor beta receptor complex assembly	extracellular space|proteinaceous extracellular matrix				breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	17			BRCA - Breast invasive adenocarcinoma(75;0.171)			TCTCGTTCCCGTCCAGGCGCA	0.642											OREG0014119	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	32	50					0	0	1	0	0	A	203311549	G	A	203311549	2	1	309	1	0	0	0	0	0	0	0	1	5992	1136	40	1		1	FMOD	1	203311549	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	397362	203311549	45939072	58	29340											
DSTYK	25778	broad.mit.edu	37	1	205138721	205138721	+	Silent	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:205138721G>A	ENST00000367162.3	-	3	924	c.894C>T	c.(892-894)agC>agT	p.S298S	DSTYK_ENST00000367160.4_Silent_p.S298S|DSTYK_ENST00000367161.3_Silent_p.S298S	NM_015375.2	NP_056190.1	Q6XUX3	DUSTY_HUMAN	dual serine/threonine and tyrosine protein kinase	298						cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(2)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)	14						GTGATCTTTCGCTCTCCATTC	0.483													16	75					0	0	1	0	0	A	205138721	G	A	205138721	2	1	309	1	0	0	0	0	0	0	0	1	4811	1078	38	1		1	DSTYK	1	205138721	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	1827172	205138721	44111900	59	29341											
RAB7L1	8934	broad.mit.edu	37	1	205740772	205740772	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:205740772C>T	ENST00000367139.3	-	4	509	c.206G>A	c.(205-207)cGc>cAc	p.R69H	RAB7L1_ENST00000414729.1_Missense_Mutation_p.R69H|RAB7L1_ENST00000235932.4_Missense_Mutation_p.R69H|RAB7L1_ENST00000437324.2_5'UTR|RAB7L1_ENST00000446390.2_Missense_Mutation_p.R45H|RAB7L1_ENST00000468887.1_Intron	NM_003929.2	NP_003920.1	O14966	RAB7L_HUMAN	RAB7, member RAS oncogene family-like 1	69					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding			endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(1)	10	Breast(84;0.0799)		BRCA - Breast invasive adenocarcinoma(75;0.0194)			AGAGGTGAAGCGCTCCTGCCC	0.517													62	91					0	0	1	0	0	T	205740772	C	T	205740772	3	4	309	1	0	0	0	0	1	0	0	0	13007	768	27	1	417	1	RAB7L1	1	205740772	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	602051	205740772	43509849	60	29342											
CR1	1378	broad.mit.edu	37	1	207793265	207793265	+	Silent	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:207793265G>A	ENST00000367049.4	+	43	7107	c.7107G>A	c.(7105-7107)tcG>tcA	p.S2369S	CR1_ENST00000367052.1_Silent_p.S1919S|CR1_ENST00000367053.1_Silent_p.S1919S|CR1_ENST00000400960.2_Silent_p.S1919S|CR1_ENST00000367051.1_Silent_p.S1919S	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	1919					complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						ATGGAATCTCGAAGGAGTTAG	0.363													6	14					0	0	1	0	0	A	207793265	G	A	207793265	2	1	309	1	0	0	0	0	0	0	0	1	3863	1045	37	1		1	CR1	1	207793265	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	2052493	207793265	41457356	61	29343											
CR1	1378	broad.mit.edu	37	1	207793369	207793369	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:207793369C>T	ENST00000367049.4	+	43	7211	c.7211C>T	c.(7210-7212)gCg>gTg	p.A2404V	CR1_ENST00000367052.1_Missense_Mutation_p.A1954V|CR1_ENST00000367053.1_Missense_Mutation_p.A1954V|CR1_ENST00000400960.2_Missense_Mutation_p.A1954V|CR1_ENST00000367051.1_Missense_Mutation_p.A1954V	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	1954					complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						CAGTGCCAGGCGGATGACAGA	0.468											OREG0014194	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	24	34					0	0	1	0	0	T	207793369	C	T	207793369	3	4	309	1	0	0	0	0	1	0	0	0	3863	768	27	1	7381	1	CR1	1	207793369	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	104	207793369	41457252	62	29344											
IARS2	55699	broad.mit.edu	37	1	220307791	220307791	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:220307791delG	ENST00000366922.1	+	15	2000	c.1669delG	c.(1669-1671)gggfs	p.G558fs	IARS2_ENST00000302637.5_Frame_Shift_Del_p.G630fs			Q9NSE4	SYIM_HUMAN	isoleucyl-tRNA synthetase 2, mitochondrial	630					isoleucyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|isoleucine-tRNA ligase activity			NS(1)|breast(1)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(17)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51				GBM - Glioblastoma multiforme(131;0.0554)	L-Isoleucine(DB00167)	AGACCAGCTCGGGGGTTGGTT	0.383													8	147	---	---	---	---						-	220307791	G	-	220307791	7	5	309	1	0	1	0	1	0	0	0	0	7518	1116	39	0	1943	0	IARS2	1	220307791	Frame_Shift_Del	DEL	G	TCGA-HT-8564-01A-11D-2395-08	12514422	220307791	28942830	63	29345											
MARK1	4139	broad.mit.edu	37	1	220791991	220791991	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:220791991G>A	ENST00000402574.1	+	9	1400	c.398G>A	c.(397-399)cGa>cAa	p.R133Q	MARK1_ENST00000366918.4_Missense_Mutation_p.R246Q|MARK1_ENST00000366917.4_Missense_Mutation_p.R268Q	NM_018650.3	NP_061120.3	Q9P0L2	MARK1_HUMAN	MAP/microtubule affinity-regulating kinase 1	268	Protein kinase.				intracellular protein kinase cascade	cytoplasm|microtubule cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1)	63				GBM - Glioblastoma multiforme(131;0.0407)		CTGCGAGAGCGAGTTTTACGA	0.353													31	72					0	0	1	0	0	A	220791991	G	A	220791991	3	1	309	1	0	0	0	0	1	0	0	0	9362	1058	37	1	837	1	MARK1	1	220791991	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	484200	220791991	28458630	64	29346											
DISP1	84976	broad.mit.edu	37	1	223176292	223176293	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:223176292_223176293delTG	ENST00000284476.6	+	8	1717_1718	c.1553_1554delTG	c.(1552-1554)atgfs	p.M518fs		NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	518	SSD.				diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		CTTTTAGTTATGTGTGTCTACA	0.361													30	143	---	---	---	---						-	223176293	TG	-	223176292	7	5	309	1	0	1	0	1	0	0	0	0	4567	1464	51	0	1579	0	DISP1	1	223176292	Frame_Shift_Del	DEL	TG	TCGA-HT-8564-01A-11D-2395-08	2384301	223176292	26074329	65	29347											
CDC42BPA	8476	broad.mit.edu	37	1	227261695	227261695	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:227261695G>A	ENST00000366769.3	-	19	3896	c.2605C>T	c.(2605-2607)Cgt>Tgt	p.R869C	CDC42BPA_ENST00000488131.1_5'UTR|CDC42BPA_ENST00000366766.2_Missense_Mutation_p.R869C|CDC42BPA_ENST00000366765.3_Missense_Mutation_p.R869C|CDC42BPA_ENST00000334218.5_Missense_Mutation_p.R869C|CDC42BPA_ENST00000366767.3_Missense_Mutation_p.R788C|CDC42BPA_ENST00000366764.2_Missense_Mutation_p.R869C|CDC42BPA_ENST00000535525.1_Missense_Mutation_p.R869C	NM_003607.3	NP_003598.2	Q5VT25	MRCKA_HUMAN	CDC42 binding protein kinase alpha (DMPK-like)	869					actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77		all_cancers(173;0.156)|Prostate(94;0.0792)				GCAAAACGACGCATTTTCCAG	0.378													9	239					0	0	1	0	0	A	227261695	G	A	227261695	3	1	309	1	0	0	0	0	1	0	0	0	3094	1087	38	1	2626	1	CDC42BPA	1	227261695	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	4085403	227261695	21988926	66	29348											
OBSCN	84033	broad.mit.edu	37	1	228471282	228471282	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:228471282C>T	ENST00000570156.2	+	38	10177	c.10103C>T	c.(10102-10104)aCg>aTg	p.T3368M	OBSCN_ENST00000284548.11_Missense_Mutation_p.T2939M|OBSCN_ENST00000422127.1_Missense_Mutation_p.T2939M|OBSCN_ENST00000366709.4_Missense_Mutation_p.T58M|OBSCN_ENST00000366707.4_Missense_Mutation_p.T58M|OBSCN_ENST00000359599.6_Missense_Mutation_p.T1786M	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	2402	Ig-like 34.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				ACGTGCAAGACGGAGCACCCC	0.632													30	53					0	0	1	0	0	T	228471282	C	T	228471282	3	4	309	1	0	0	0	0	1	0	0	0	10860	536	19	1	8942	1	OBSCN	1	228471282	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	1209587	228471282	20779339	67	29349											
SIPA1L2	57568	broad.mit.edu	37	1	232574983	232574983	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:232574983G>A	ENST00000366630.1	-	14	4260	c.3902C>T	c.(3901-3903)gCc>gTc	p.A1301V	SIPA1L2_ENST00000262861.4_Missense_Mutation_p.A1301V|SIPA1L2_ENST00000308942.4_Missense_Mutation_p.A375V			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	1301					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				AGAGACGTCGGCAGCATCAGC	0.667													12	137					0	0	1	0	0	A	232574983	G	A	232574983	3	1	309	1	0	0	0	0	1	0	0	0	14385	1203	42	2	1302	2	SIPA1L2	1	232574983	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	4103701	232574983	16675638	68	29350											
KIF26B	55083	broad.mit.edu	37	1	245848743	245848743	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:245848743G>A	ENST00000366518.4	+	9	1419	c.1315G>A	c.(1315-1317)Gaa>Aaa	p.E439K	KIF26B_ENST00000407071.2_Missense_Mutation_p.E820K			Q2KJY2	KI26B_HUMAN	kinesin family member 26B	820					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			GAGCTCCTGCGAAGAAGGCCG	0.652													18	36					0	0	1	0	0	A	245848743	G	A	245848743	3	1	309	1	0	0	0	0	1	0	0	0	8337	1059	37	1	2504	1	KIF26B	1	245848743	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	13273760	245848743	3401878	69	29351											
AHCTF1	25909	broad.mit.edu	37	1	247021040	247021040	+	Silent	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:247021040C>T	ENST00000366508.1	-	30	4450	c.4314G>A	c.(4312-4314)ccG>ccA	p.P1438P	AHCTF1_ENST00000470300.1_5'UTR|AHCTF1_ENST00000391829.2_Silent_p.P1403P|AHCTF1_ENST00000326225.3_Silent_p.P1412P			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	1403	Necessary for nuclear localization (By similarity).				cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport	condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm	DNA binding			NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			TTCCTTGAACCGGGCTTAAGT	0.343													4	69					0	0	1	0	0	T	247021040	C	T	247021040	2	4	309	1	0	0	0	0	0	0	0	1	405	639	23	1		1	AHCTF1	1	247021040	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	1172297	247021040	2229581	70	29352											
PXDN	7837	broad.mit.edu	37	2	1684083	1684083	+	Silent	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:1684083C>T	ENST00000252804.4	-	7	662	c.612G>A	c.(610-612)gcG>gcA	p.A204A		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	204	LRRCT.				extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		TCAGCAAATCCGCCAACCACA	0.587													22	19					0	0	1	0	0	T	1684083	C	T	1684083	2	4	309	1	0	0	0	0	0	0	0	1	12899	639	23	1		1	PXDN	2	1684083	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08		1684083	241515290	71	29353											
ODC1	4953	broad.mit.edu	37	2	10582006	10582006	+	Silent	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:10582006G>A	ENST00000234111.4	-	10	1473	c.963C>T	c.(961-963)ggC>ggT	p.G321G	ODC1_ENST00000405333.1_Silent_p.G321G	NM_002539.1	NP_002530.1	P11926	DCOR_HUMAN	ornithine decarboxylase 1	321					polyamine biosynthetic process|regulation of cellular amino acid metabolic process|response to virus	cytosol	ornithine decarboxylase activity|protein binding			NS(1)|central_nervous_system(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|skin(3)	19	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.161)	Pyridoxal Phosphate(DB00114)|Spermine(DB00127)	ATCCATAGACGCCATCATTCA	0.378													34	236					0	0	1	0	0	A	10582006	G	A	10582006	2	1	309	1	0	0	0	0	0	0	0	1	10873	1074	38	1		1	ODC1	2	10582006	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	8897923	10582006	232617367	72	29354											
PFN4	375189	broad.mit.edu	37	2	24344101	24344103	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:24344101_24344103delCTT	ENST00000313213.4	-	3	556_558	c.185_187delAAG	c.(184-189)gaagga>gga	p.E62del	PFN4_ENST00000465360.1_5'UTR	NM_199346.1	NP_955378.1	Q8NHR9	PROF4_HUMAN	profilin family, member 4	62					actin cytoskeleton organization	actin cytoskeleton|cytoplasm	actin binding			breast(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	6	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AAATACAGTCCTTCTCTTCGGGC	0.453													93	103	---	---	---	---						-	24344103	CTT	-	24344101	7	5	309	1	0	1	0	1	0	0	0	0	11818	690	24	0	214	0	PFN4	2	24344101	In_Frame_Del	DEL	CTT	TCGA-HT-8564-01A-11D-2395-08	13762095	24344101	218855272	73	29355											
DNMT3A	1788	broad.mit.edu	37	2	25464537	25464537	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:25464537C>T	ENST00000264709.3	-	17	2313	c.1976G>A	c.(1975-1977)cGc>cAc	p.R659H	DNMT3A_ENST00000321117.5_Missense_Mutation_p.R659H|DNMT3A_ENST00000402667.1_Missense_Mutation_p.R436H|DNMT3A_ENST00000380746.4_Missense_Mutation_p.R470H|DNMT3A_ENST00000474887.1_5'UTR	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	659					regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding	p.R659H(1)|p.R470H(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGCAATGTAGCGGTCCACCTG	0.627			"Mis, F, N, S"		AML								31	28					0	0	1	0	0	T	25464537	C	T	25464537	3	4	309	1	0	0	0	0	1	0	0	0	4703	768	27	1	790	1	DNMT3A	2	25464537	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	1120436	25464537	217734836	74	29356											
HADHA	3030	broad.mit.edu	37	2	26414365	26414365	+	Silent	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:26414365C>T	ENST00000380649.3	-	19	2262	c.2133G>A	c.(2131-2133)ccG>ccA	p.P711P		NM_000182.4	NP_000173.2	P40939	ECHA_HUMAN	hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit	711					fatty acid beta-oxidation	fatty acid beta-oxidation multienzyme complex|mitochondrial nucleoid|nucleolus	3-hydroxyacyl-CoA dehydrogenase activity|acetyl-CoA C-acetyltransferase activity|coenzyme binding|enoyl-CoA hydratase activity|long-chain-3-hydroxyacyl-CoA dehydrogenase activity|protein binding			autonomic_ganglia(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(4)|skin(1)	30	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				NADH(DB00157)	CCAGACAAGGCGGGAAGCCAA	0.552													47	43					0	0	1	0	0	T	26414365	C	T	26414365	2	4	309	1	0	0	0	0	0	0	0	1	6984	755	27	1		1	HADHA	2	26414365	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	949828	26414365	216785008	75	29357											
OTOF	9381	broad.mit.edu	37	2	26700618	26700618	+	Splice_Site	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:26700618C>T	ENST00000272371.2	-	19	2341		c.e19-1		OTOF_ENST00000402415.3_Silent_p.Q48Q|OTOF_ENST00000403946.3_Splice_Site|OTOF_ENST00000338581.6_Splice_Site|OTOF_ENST00000339598.3_Splice_Site	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin						cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGCCTTCTTCCTGTGAATCAG	0.607													23	42					0	0	1	0	0	T	26700618	C	T	26700618	5	4	309	1	0	0	0	0	0	0	1	0	11350	695	24	2	4076	2	OTOF	2	26700618	Splice_Site	SNP	C	TCGA-HT-8564-01A-11D-2395-08	286253	26700618	216498755	76	29358											
TRIM54	57159	broad.mit.edu	37	2	27529116	27529116	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:27529116G>A	ENST00000296098.4	+	8	1298	c.1028G>A	c.(1027-1029)cGg>cAg	p.R343Q	TRIM54_ENST00000380075.2_Missense_Mutation_p.R301Q	NM_032546.3	NP_115935.3	Q9BYV2	TRI54_HUMAN	tripartite motif containing 54	301					cell differentiation|microtubule-based process|multicellular organismal development|negative regulation of microtubule depolymerization	microtubule|sarcomere	signal transducer activity|zinc ion binding			cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTGGCAGGGCGGCCGGAGCCA	0.642													51	111					0	0	1	0	0	A	27529116	G	A	27529116	3	1	309	1	0	0	0	0	1	0	0	0	16589	1116	39	1	1058	1	TRIM54	2	27529116	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	828498	27529116	215670257	77	29359											
PLB1	151056	broad.mit.edu	37	2	28785936	28785936	+	Silent	SNP	C	C	T	rs147698393		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:28785936C>T	ENST00000422425.2	+	18	1253	c.1209C>T	c.(1207-1209)aaC>aaT	p.N403N	PLB1_ENST00000327757.5_Silent_p.N392N|PLB1_ENST00000329020.6_Silent_p.N80N	NM_001170585.1	NP_001164056.1	Q6P1J6	PLB1_HUMAN	phospholipase B1	392	4 X 308-326 AA approximate repeats.				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					CTGACATCAACGTAATTGGAG	0.488													20	85					0	0	1	0	0	T	28785936	C	T	28785936	2	4	309	1	0	0	0	0	0	0	0	1	12072	535	19	1		1	PLB1	2	28785936	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	1256820	28785936	214413437	78	29360											
FAM179A	165186	broad.mit.edu	37	2	29240816	29240816	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:29240816G>A	ENST00000379558.4	+	10	1705	c.1354G>A	c.(1354-1356)Gcc>Acc	p.A452T	FAM179A_ENST00000465300.1_Intron|FAM179A_ENST00000403861.2_Intron	NM_199280.2	NP_954974.2	Q6ZUX3	F179A_HUMAN	family with sequence similarity 179, member A	452							binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						TGCCCGCCACGCCTCAGGTGG	0.672													9	21					0	0	1	0	0	A	29240816	G	A	29240816	3	1	309	1	0	0	0	0	1	0	0	0	5535	1087	38	1	1388	1	FAM179A	2	29240816	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	454880	29240816	213958557	79	29361											
SRBD1	55133	broad.mit.edu	37	2	45812861	45812861	+	Missense_Mutation	SNP	C	C	T	rs145594682		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:45812861C>T	ENST00000263736.4	-	5	763	c.701G>A	c.(700-702)cGt>cAt	p.R234H		NM_018079.4	NP_060549.4	Q8N5C6	SRBD1_HUMAN	S1 RNA binding domain 1	234					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		hydrolase activity, acting on ester bonds|RNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(13)|large_intestine(8)|lung(15)|skin(2)|stomach(1)|urinary_tract(1)	49		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)			ATTAAAGAGACGAATGATGTT	0.323													31	81					0	0	1	0	0	T	45812861	C	T	45812861	3	4	309	1	0	0	0	0	1	0	0	0	15189	536	19	1	2354	1	SRBD1	2	45812861	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	16572045	45812861	197386512	80	29362											
EPAS1	2034	broad.mit.edu	37	2	46574124	46574124	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:46574124G>A	ENST00000263734.3	+	2	649	c.139G>A	c.(139-141)Gtg>Atg	p.V47M	EPAS1_ENST00000467888.1_3'UTR	NM_001430.4	NP_001421.2	Q99814	EPAS1_HUMAN	endothelial PAS domain protein 1	47	Helix-loop-helix motif.				angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia	transcription factor complex	histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)			GCCCCACAGTGTGAGCTCCCA	0.617													13	214					0	0	1	0	0	A	46574124	G	A	46574124	3	1	309	1	0	0	0	0	1	0	0	0	5178	1377	48	2	145	2	EPAS1	2	46574124	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	761263	46574124	196625249	81	29363											
VPS54	51542	broad.mit.edu	37	2	64199337	64199339	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:64199337_64199339delAGG	ENST00000409558.4	-	4	536_538	c.382_384delCCT	c.(382-384)cctdel	p.P128del	VPS54_ENST00000354504.3_In_Frame_Del_p.P23del|VPS54_ENST00000272322.4_In_Frame_Del_p.P140del	NM_001005739.1|NM_016516.2	NP_001005739.1|NP_057600.2	Q9P1Q0	VPS54_HUMAN	vacuolar protein sorting 54 homolog (S. cerevisiae)						protein transport|retrograde transport, endosome to Golgi			p.P140T(1)		endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	27						AGGTATCTTTAGGAGGACAAATA	0.286													14	47	---	---	---	---						-	64199339	AGG	-	64199337	7	5	309	1	0	1	0	1	0	0	0	0	17276	407	15	0	2593	0	VPS54	2	64199337	In_Frame_Del	DEL	AGG	TCGA-HT-8564-01A-11D-2395-08	17625213	64199337	179000036	82	29364											
CLEC4F	165530	broad.mit.edu	37	2	71043766	71043766	+	Silent	SNP	G	G	A	rs142908853		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:71043766G>A	ENST00000272367.2	-	4	823	c.747C>T	c.(745-747)aaC>aaT	p.N249N	CLEC4F_ENST00000426626.1_Silent_p.N249N	NM_001258027.1|NM_173535.2	NP_001244956.1|NP_775806.2	Q8N1N0	CLC4F_HUMAN	C-type lectin domain family 4, member F	249					endocytosis	integral to membrane	receptor activity|sugar binding			endometrium(1)|large_intestine(5)|lung(18)|ovary(5)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	37						CAGCATTAGCGTTCTTTAAAC	0.418													31	88					0	0	1	0	0	A	71043766	G	A	71043766	2	1	309	1	0	0	0	0	0	0	0	1	3539	1136	40	1		1	CLEC4F	2	71043766	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	6844429	71043766	172155607	83	29365											
DYSF	8291	broad.mit.edu	37	2	71753455	71753455	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:71753455C>T	ENST00000258104.3	+	12	1436	c.1159C>T	c.(1159-1161)Cgg>Tgg	p.R387W	DYSF_ENST00000409651.1_Missense_Mutation_p.R419W|DYSF_ENST00000410041.1_Missense_Mutation_p.R419W|DYSF_ENST00000409744.1_Missense_Mutation_p.R388W|DYSF_ENST00000410020.3_Missense_Mutation_p.R419W|DYSF_ENST00000409762.1_Missense_Mutation_p.R418W|DYSF_ENST00000413539.2_Missense_Mutation_p.R418W|DYSF_ENST00000394120.2_Missense_Mutation_p.R388W|DYSF_ENST00000409366.1_Missense_Mutation_p.R388W|DYSF_ENST00000429174.2_Missense_Mutation_p.R387W|DYSF_ENST00000409582.3_Missense_Mutation_p.R418W	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	387	C2 3.		FRAED -> Y (in MMD1).			cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						GAAGGTCTTCCGGGCCGAGGA	0.672													83	246					0	0	1	0	0	T	71753455	C	T	71753455	3	4	309	1	0	0	0	0	1	0	0	0	4885	643	23	1	1397	1	DYSF	2	71753455	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	709689	71753455	171445918	84	29366											
CYP26B1	56603	broad.mit.edu	37	2	72359683	72359683	+	Silent	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:72359683G>A	ENST00000001146.2	-	6	1415	c.1212C>T	c.(1210-1212)ccC>ccT	p.P404P	CYP26B1_ENST00000412253.1_Silent_p.P213P|CYP26B1_ENST00000546307.1_Silent_p.P329P	NM_001277742.1|NM_019885.2	NP_001264671.1|NP_063938.1	Q9NR63	CP26B_HUMAN	cytochrome P450, family 26, subfamily B, polypeptide 1	404					cell fate determination|embryonic limb morphogenesis|male meiosis|negative regulation of retinoic acid receptor signaling pathway|proximal/distal pattern formation|retinoic acid catabolic process|spermatogenesis|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding			breast(1)|kidney(3)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)	28						CTTTGAACACGGGCGCTGTGT	0.612													23	37					0	0	1	0	0	A	72359683	G	A	72359683	2	1	309	1	0	0	0	0	0	0	0	1	4179	1103	39	1		1	CYP26B1	2	72359683	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	606228	72359683	170839690	85	29367											
ALMS1	7840	broad.mit.edu	37	2	73717091	73717091	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:73717091C>T	ENST00000264448.6	+	10	8113	c.8002C>T	c.(8002-8004)Cga>Tga	p.R2668*	ALMS1_ENST00000409009.1_Nonsense_Mutation_p.R2626*	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	2668					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						CAAAGGTCTTCGAATGCCATT	0.378													95	176					0	0	1	0	0	T	73717091	C	T	73717091	4	4	309	1	0	0	0	0	0	1	0	0	531	876	31	1	8040	1	ALMS1	2	73717091	Nonsense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	1357408	73717091	169482282	86	29368											
DCTN1	1639	broad.mit.edu	37	2	74595114	74595114	+	Silent	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:74595114G>A	ENST00000361874.3	-	17	2316	c.1999C>T	c.(1999-2001)Cta>Tta	p.L667L	DCTN1_ENST00000407639.2_Silent_p.L533L|DCTN1_ENST00000409868.1_Silent_p.L650L|DCTN1_ENST00000409438.1_Silent_p.L533L|DCTN1_ENST00000409567.3_Silent_p.L647L|DCTN1_ENST00000495643.1_5'UTR|DCTN1_ENST00000394003.3_Silent_p.L660L|DCTN1_ENST00000409240.1_Silent_p.L630L	NM_004082.4	NP_004073.2	Q14203	DCTN1_HUMAN	dynactin 1	667					cell death|G2/M transition of mitotic cell cycle|mitosis|nervous system development	centrosome|cytosol|kinetochore|microtubule|spindle pole	motor activity|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						TAGCGGTGTAGCGTGGCCTGC	0.607													25	94					0	0	1	0	0	A	74595114	G	A	74595114	2	1	309	1	0	0	0	0	0	0	0	1	4329	962	34	2		2	DCTN1	2	74595114	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	878023	74595114	168604259	87	29369											
TLX2	3196	broad.mit.edu	37	2	74742798	74742798	+	Missense_Mutation	SNP	C	C	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:74742798C>A	ENST00000233638.7	+	2	762	c.439C>A	c.(439-441)Cac>Aac	p.H147N		NM_016170.4	NP_057254.1	O43763	TLX2_HUMAN	T-cell leukemia homeobox 2	147						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|ovary(1)	2						CCGCATAGGCCACCCCTACCA	0.652													36	116					4.14481e-20	4.26486e-20	1	1	0	A	74742798	C	A	74742798	3	1	309	1	0	0	0	0	1	0	0	0	16021	594	21	5	445	5	TLX2	2	74742798	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	147684	74742798	168456575	88	29370											
HK2	3099	broad.mit.edu	37	2	75107689	75107689	+	Silent	SNP	C	C	T	rs144796715		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:75107689C>T	ENST00000290573.2	+	10	2163	c.1563C>T	c.(1561-1563)gaC>gaT	p.D521D	HK2_ENST00000409174.1_Silent_p.D493D	NM_000189.4	NP_000180.2	P52789	HXK2_HUMAN	hexokinase 2	521	Catalytic.				apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane	ATP binding|glucokinase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	43						CTACCCCGGACGGCACAGGTA	0.577													9	31					0	0	1	0	0	T	75107689	C	T	75107689	2	4	309	1	0	0	0	0	0	0	0	1	7232	535	19	1		1	HK2	2	75107689	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	364891	75107689	168091684	89	29371											
TCF7L1	83439	broad.mit.edu	37	2	85531438	85531438	+	Silent	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:85531438C>T	ENST00000282111.3	+	7	1097	c.822C>T	c.(820-822)ctC>ctT	p.L274L		NM_031283.2	NP_112573.1	Q9HCS4	TF7L1_HUMAN	transcription factor 7-like 1 (T-cell specific, HMG-box)	274	Pro-rich.				chromatin organization|regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|skin(4)|upper_aerodigestive_tract(1)	18						ACCCCGCCCTCGCCATGAACG	0.592													67	73					0	0	1	0	0	T	85531438	C	T	85531438	2	4	309	1	0	0	0	0	0	0	0	1	15757	871	31	1		1	TCF7L1	2	85531438	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	10423749	85531438	157667935	90	29372											
SMYD1	150572	broad.mit.edu	37	2	88387390	88387390	+	Silent	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:88387390G>A	ENST00000419482.2	+	3	409	c.324G>A	c.(322-324)gcG>gcA	p.A108A	SMYD1_ENST00000444564.2_Silent_p.A108A|SMYD1_ENST00000438570.1_Intron|SMYD1_ENST00000468008.1_3'UTR	NM_198274.3	NP_938015.1	Q8NB12	SMYD1_HUMAN	SET and MYND domain containing 1	108					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	41						GGCTGGCGGCGCGCATCATGT	0.607													14	18					0	0	1	0	0	A	88387390	G	A	88387390	2	1	309	1	0	0	0	0	0	0	0	1	14875	1074	38	1		1	SMYD1	2	88387390	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	2855952	88387390	154811983	91	29373											
FAHD2B	151313	broad.mit.edu	37	2	97749725	97749725	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:97749725delG	ENST00000414820.1	-	8	1112	c.842delC	c.(841-843)ccafs	p.P281fs	FAHD2B_ENST00000272610.3_Frame_Shift_Del_p.P281fs|FAHD2B_ENST00000440566.2_Frame_Shift_Del_p.P281fs			Q6P2I3	FAH2B_HUMAN	fumarylacetoacetate hydrolase domain containing 2B	281							hydrolase activity|metal ion binding			kidney(5)|large_intestine(2)|lung(3)|skin(2)	12						ACCGACACCTGGGGGGGTCCC	0.552													16	52	---	---	---	---						-	97749725	G	-	97749725	7	5	309	1	0	1	0	1	0	0	0	0	5405	1348	47	0	110	0	FAHD2B	2	97749725	Frame_Shift_Del	DEL	G	TCGA-HT-8564-01A-11D-2395-08	9362335	97749725	145449648	92	29374											
REV1	51455	broad.mit.edu	37	2	100022891	100022891	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:100022891C>T	ENST00000258428.3	-	16	2738	c.2510G>A	c.(2509-2511)cGc>cAc	p.R837H	REV1_ENST00000393445.3_Missense_Mutation_p.R836H|REV1_ENST00000465835.1_5'UTR	NM_001037872.1|NM_016316.2	NP_001032961.1|NP_057400.1	Q9UBZ9	REV1_HUMAN	REV1, polymerase (DNA directed)	837					DNA replication|error-prone translesion synthesis|response to UV	nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|magnesium ion binding|protein binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(12)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						AACTGATGGGCGACTGGGACA	0.453								Direct reversal of damage					22	41					0	0	1	0	0	T	100022891	C	T	100022891	3	4	309	1	0	0	0	0	1	0	0	0	13291	768	27	1	1277	1	REV1	2	100022891	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	2273166	100022891	143176482	93	29375											
IL18R1	8809	broad.mit.edu	37	2	103013337	103013337	+	Silent	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:103013337C>T	ENST00000409599.1	+	12	1973	c.1617C>T	c.(1615-1617)tcC>tcT	p.S539S	IL18R1_ENST00000233957.1_Silent_p.S539S			Q13478	IL18R_HUMAN	interleukin 18 receptor 1	539					innate immune response	integral to membrane|plasma membrane	interleukin-1 receptor activity			breast(1)|endometrium(3)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						CTGTTCTTTCCGAGTCTTAAT	0.413													20	42					0	0	1	0	0	T	103013337	C	T	103013337	2	4	309	1	0	0	0	0	0	0	0	1	7691	639	23	1		1	IL18R1	2	103013337	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	2990446	103013337	140186036	94	29376											
RANBP2	5903	broad.mit.edu	37	2	109383056	109383056	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:109383056G>A	ENST00000283195.6	+	20	6187	c.6061G>A	c.(6061-6063)Gaa>Aaa	p.E2021K		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	2021	RanBD1 2.				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						TCAAATGCCCGAAAAAGTAGA	0.388													325	373					0	0	1	0	0	A	109383056	G	A	109383056	3	1	309	1	0	0	0	0	1	0	0	0	13080	1059	37	1	6139	1	RANBP2	2	109383056	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	6369719	109383056	133816317	95	29377											
POLR1B	84172	broad.mit.edu	37	2	113322007	113322007	+	Silent	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:113322007C>T	ENST00000263331.5	+	10	2257	c.1677C>T	c.(1675-1677)gaC>gaT	p.D559D	POLR1B_ENST00000417433.2_Silent_p.D503D|POLR1B_ENST00000537335.1_Silent_p.D348D|POLR1B_ENST00000541869.1_Silent_p.D597D|POLR1B_ENST00000409894.3_Intron	NM_019014.4	NP_061887.2	Q9H9Y6	RPA2_HUMAN	polymerase (RNA) I polypeptide B, 128kDa	559					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding			breast(3)|endometrium(9)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42						TCCTGCTGGACGGTGTCATGG	0.502													74	135					0	0	1	0	0	T	113322007	C	T	113322007	2	4	309	1	0	0	0	0	0	0	0	1	12258	535	19	1		1	POLR1B	2	113322007	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	3938951	113322007	129877366	96	29378											
EN1	2019	broad.mit.edu	37	2	119600797	119600799	+	In_Frame_Del	DEL	TTC	TTC	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:119600797_119600799delTTC	ENST00000295206.6	-	2	1404_1406	c.894_896delGAA	c.(892-897)aagaac>aac	p.K298del		NM_001426.3	NP_001417.3	Q05925	HME1_HUMAN	engrailed homeobox 1	298					skeletal system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	9						CTCCTTCTCGTTCTTCTTCTTCT	0.68													6	11	---	---	---	---						-	119600799	TTC	-	119600797	7	5	309	1	0	1	0	1	0	0	0	0	5137	1725	60	0	286	0	EN1	2	119600797	In_Frame_Del	DEL	TTC	TCGA-HT-8564-01A-11D-2395-08	6278790	119600797	123598576	97	29379											
TMEM177	80775	broad.mit.edu	37	2	120439264	120439264	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:120439264G>A	ENST00000424086.1	+	2	1308	c.835G>A	c.(835-837)Gtc>Atc	p.V279I	TMEM177_ENST00000496203.1_Intron|TMEM177_ENST00000272521.6_Missense_Mutation_p.V279I|TMEM177_ENST00000409951.1_Intron|TMEM177_ENST00000401466.1_Missense_Mutation_p.V279I	NM_001105198.1	NP_001098668.1	Q53S58	TM177_HUMAN	transmembrane protein 177	279						integral to membrane				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	13	Colorectal(110;0.196)					CGGGAACATCGTCCCCAGACA	0.582													95	95					0	0	1	0	0	A	120439264	G	A	120439264	3	1	309	1	0	0	0	0	1	0	0	0	16154	1145	40	1	837	1	TMEM177	2	120439264	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	838467	120439264	122760109	98	29380											
POTEF	728378	broad.mit.edu	37	2	130872806	130872806	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:130872806delT	ENST00000357462.5	-	2	710	c.617delA	c.(616-618)aagfs	p.K206fs	POTEF_ENST00000361163.4_Frame_Shift_Del_p.K206fs|POTEF_ENST00000360967.5_Frame_Shift_Del_p.K206fs|POTEF_ENST00000409914.2_Frame_Shift_Del_p.K206fs			A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	206						cell cortex	ATP binding	p.K206R(2)		breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						AGCTGTCCTCTTTTTGTTGTC	0.403													28	86	---	---	---	---						-	130872806	T	-	130872806	7	5	309	1	0	1	0	1	0	0	0	0	12312	1609	56	0	2666	0	POTEF	2	130872806	Frame_Shift_Del	DEL	T	TCGA-HT-8564-01A-11D-2395-08	10433542	130872806	112326567	99	29381											
POTEE	445582	broad.mit.edu	37	2	132021077	132021078	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:132021077_132021078insA	ENST00000356920.5	+	15	2143_2144	c.2049_2050insA	c.(2050-2052)aaafs	p.K684fs	PLEKHB2_ENST00000404460.1_Intron|POTEE_ENST00000358087.5_3'UTR|PLEKHB2_ENST00000303908.3_Intron	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	684							ATP binding										TTGAAAGTGTGAAAAAAAAGAA	0.416													14	24	---	---	---	---						A	132021078	-	A	132021077	7	5	309	1	0	1	1	0	0	0	0	0	12311	1277	45	0	2107	0	POTEE	2	132021077	Frame_Shift_Ins	INS	-	TCGA-HT-8564-01A-11D-2395-08	1148271	132021077	111178296	100	29382											
R3HDM1	23518	broad.mit.edu	37	2	136481617	136481617	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:136481617C>T	ENST00000264160.4	+	26	3425	c.3055C>T	c.(3055-3057)Cgg>Tgg	p.R1019W	R3HDM1_ENST00000410054.1_Missense_Mutation_p.R964W|R3HDM1_ENST00000329971.3_Missense_Mutation_p.R890W|R3HDM1_ENST00000409606.1_Missense_Mutation_p.R1020W|R3HDM1_ENST00000409478.1_Missense_Mutation_p.R891W	NM_001282798.1|NM_015361.2	NP_001269727.1|NP_056176.2	Q15032	R3HD1_HUMAN	R3H domain containing 1	1019							nucleic acid binding			breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	38				BRCA - Breast invasive adenocarcinoma(221;0.127)		CCGGTGGCTCCGGGACCCCCA	0.542													93	80					0	0	1	0	0	T	136481617	C	T	136481617	3	4	309	1	0	0	0	0	1	0	0	0	12939	643	23	1	3149	1	R3HDM1	2	136481617	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	4460540	136481617	106717756	101	29383											
LRP1B	53353	broad.mit.edu	37	2	141816539	141816539	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:141816539G>A	ENST00000389484.3	-	9	2292	c.1321C>T	c.(1321-1323)Cga>Tga	p.R441*		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	441					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CCATTAAATCGGTTTATCCTT	0.328										TSP Lung(27;0.18)			7	89					0	0	1	0	0	A	141816539	G	A	141816539	4	1	309	1	0	0	0	0	0	1	0	0	9000	1124	39	1	12810	1	LRP1B	2	141816539	Nonsense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	5334922	141816539	101382834	102	29384											
LRP2	4036	broad.mit.edu	37	2	170022532	170022532	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:170022532G>A	ENST00000263816.3	-	62	11953	c.11668C>T	c.(11668-11670)Cgg>Tgg	p.R3890W		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	3890	LDL-receptor class A 35.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	TTGTCACACCGGAAACGGTTT	0.388													88	104					0	0	1	0	0	A	170022532	G	A	170022532	3	1	309	1	0	0	0	0	1	0	0	0	9001	1115	39	1	2371	1	LRP2	2	170022532	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	28205993	170022532	73176841	103	29385											
LRP2	4036	broad.mit.edu	37	2	170060607	170060607	+	Silent	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:170060607G>A	ENST00000263816.3	-	42	8175	c.7890C>T	c.(7888-7890)acC>acT	p.T2630T		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2630					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	GCAAATTTGTGGTCATTGCAA	0.448													69	294					0	0	1	0	0	A	170060607	G	A	170060607	2	1	309	1	0	0	0	0	0	0	0	1	9001	1335	47	2		2	LRP2	2	170060607	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	38075	170060607	73138766	104	29386											
TTN	7273	broad.mit.edu	37	2	179412628	179412628	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:179412628C>T	ENST00000589042.1	-	339	93949	c.93725G>A	c.(93724-93726)cGt>cAt	p.R31242H	TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R22302H|TTN_ENST00000460472.2_Missense_Mutation_p.R22177H|TTN_ENST00000342175.6_Missense_Mutation_p.R22369H|TTN_ENST00000591111.1_Missense_Mutation_p.R29601H|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R28674H	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	29601	Fibronectin type-III 127.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGGGGCAGGACGACCACTGAT	0.448													26	47					0	0	1	0	0	T	179412628	C	T	179412628	3	4	309	1	0	0	0	0	1	0	0	0	16797	536	19	1	14350	1	TTN	2	179412628	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	9352021	179412628	63786745	105	29387											
TTN	7273	broad.mit.edu	37	2	179430304	179430304	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:179430304C>T	ENST00000589042.1	-	326	80779	c.80555G>A	c.(80554-80556)cGt>cAt	p.R26852H	TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R17912H|TTN_ENST00000460472.2_Missense_Mutation_p.R17787H|TTN_ENST00000342175.6_Missense_Mutation_p.R17979H|TTN_ENST00000591111.1_Missense_Mutation_p.R25211H|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R24284H	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	25211	Fibronectin type-III 95.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGCCTTGACACGGAACTGATA	0.418													74	193					0	0	1	0	0	T	179430304	C	T	179430304	3	4	309	1	0	0	0	0	1	0	0	0	16797	536	19	1	27572	1	TTN	2	179430304	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	17676	179430304	63769069	106	29388											
TTN	7273	broad.mit.edu	37	2	179598102	179598102	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:179598102delT	ENST00000589042.1	-	54	16142	c.15918delA	c.(15916-15918)aaafs	p.K5306fs	TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Frame_Shift_Del_p.K4989fs|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000582847.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Frame_Shift_Del_p.K4062fs	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	4989	Ig-like 33.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTATTCGGTATTTTTTACTGG	0.468													86	109	---	---	---	---						-	179598102	T	-	179598102	7	5	309	1	0	1	0	1	0	0	0	0	16797	1490	52	0	88847	0	TTN	2	179598102	Frame_Shift_Del	DEL	T	TCGA-HT-8564-01A-11D-2395-08	167798	179598102	63601271	107	29389											
TTN	7273	broad.mit.edu	37	2	179604439	179604439	+	Missense_Mutation	SNP	C	C	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:179604439C>A	ENST00000589042.1	-	48	13745	c.13521G>T	c.(13519-13521)atG>atT	p.M4507I	TTN_ENST00000359218.5_Missense_Mutation_p.M4269I|TTN_ENST00000460472.2_Missense_Mutation_p.M4144I|TTN_ENST00000342175.6_Missense_Mutation_p.M4336I|TTN_ENST00000591111.1_Missense_Mutation_p.M4190I|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000342992.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	4190	Ig-like 25.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AAAAAGAATCCATTTCTTCTT	0.388													31	212					2.85442e-18	2.93262e-18	1	1	0	A	179604439	C	A	179604439	3	1	309	1	0	0	0	0	1	0	0	0	16797	594	21	5	91268	5	TTN	2	179604439	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	6337	179604439	63594934	108	29390											
HECW2	57520	broad.mit.edu	37	2	197183524	197183524	+	Missense_Mutation	SNP	G	G	A	rs139251909		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:197183524G>A	ENST00000260983.3	-	9	2272	c.2090C>T	c.(2089-2091)tCg>tTg	p.S697L	HECW2_ENST00000409111.1_Missense_Mutation_p.S341L	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2						protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						GGATTCCTGCGACCCTTCGGC	0.612													6	110					0	0	1	0	0	A	197183524	G	A	197183524	3	1	309	1	0	0	0	0	1	0	0	0	7084	1059	37	1	2712	1	HECW2	2	197183524	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	17579085	197183524	46015849	109	29391											
BZW1	9689	broad.mit.edu	37	2	201683504	201683504	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:201683504G>A	ENST00000409600.1	+	9	1301	c.846G>A	c.(844-846)atG>atA	p.M282I	BZW1_ENST00000409226.1_Missense_Mutation_p.M286I|BZW1_ENST00000452790.2_Missense_Mutation_p.M314I	NM_001207067.1|NM_014670.3	NP_001193996.1|NP_055485.2	Q7L1Q6	BZW1_HUMAN	basic leucine zipper and W2 domains 1	282	W2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm	protein binding			breast(1)|kidney(2)|large_intestine(1)|lung(2)	6						AGGAGGAGATGAAAAAAAACA	0.373													19	33					0	0	1	0	0	A	201683504	G	A	201683504	3	1	309	1	0	0	0	0	1	0	0	0	1581	1290	45	2	876	2	BZW1	2	201683504	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	4499980	201683504	41515869	110	29392											
CD28	940	broad.mit.edu	37	2	204599561	204599561	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:204599561C>T	ENST00000324106.8	+	4	738	c.589C>T	c.(589-591)Cgc>Tgc	p.R197C	CD28_ENST00000374481.3_Missense_Mutation_p.R113C|CD28_ENST00000374478.4_Missense_Mutation_p.R78C|CD28_ENST00000458610.2_Missense_Mutation_p.R211C	NM_001243077.1|NM_006139.3	NP_001230006.1|NP_006130.1	P10747	CD28_HUMAN	CD28 molecule						cell surface receptor linked signaling pathway|cytokine biosynthetic process|humoral immune response|positive regulation of anti-apoptosis|positive regulation of interleukin-2 biosynthetic process|positive regulation of mitosis|positive regulation of translation|positive regulation of viral genome replication|regulation of defense response to virus by virus|regulatory T cell differentiation|T cell costimulation|viral reproduction	cytosol|external side of plasma membrane|integral to plasma membrane	coreceptor activity|protease binding|SH3/SH2 adaptor activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	13						CATGACTCCCCGCCGCCCCGG	0.597													83	173					0	0	1	0	0	T	204599561	C	T	204599561	3	4	309	1	0	0	0	0	1	0	0	0	3015	652	23	1	603	1	CD28	2	204599561	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	2916057	204599561	38599812	111	29393											
ABCA12	26154	broad.mit.edu	37	2	215809802	215809802	+	Silent	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:215809802C>T	ENST00000272895.7	-	49	7485	c.7266G>A	c.(7264-7266)ccG>ccA	p.P2422P	AC072062.1_ENST00000607412.1_RNA|ABCA12_ENST00000389661.4_Silent_p.P2104P	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	2422	ABC transporter 2.				cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity	p.P2422P(1)		NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		GTTTCGACTTCGGATCCATGC	0.363													26	29					0	0	1	0	0	T	215809802	C	T	215809802	2	4	309	1	0	0	0	0	0	0	0	1	30	871	31	1		1	ABCA12	2	215809802	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	11210241	215809802	27389571	112	29394											
ATIC	471	broad.mit.edu	37	2	216209588	216209588	+	Silent	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:216209588C>T	ENST00000435675.1	+	12	1702	c.1311C>T	c.(1309-1311)aaC>aaT	p.N437N	ATIC_ENST00000540518.1_Silent_p.N379N|ATIC_ENST00000236959.9_Silent_p.N438N			P31939	PUR9_HUMAN	5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase	438					IMP biosynthetic process|purine base metabolic process	cytosol	IMP cyclohydrolase activity|phosphoribosylaminoimidazolecarboxamide formyltransferase activity|protein homodimerization activity		ATIC/ALK(24)	large_intestine(2)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	8		Renal(323;0.229)		Epithelial(149;2.02e-06)|all cancers(144;0.000316)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.0097)	Tetrahydrofolic acid(DB00116)	ACGCCAAGAACGGGCAGGTAA	0.488			T	ALK	ALCL								28	61					0	0	1	0	0	T	216209588	C	T	216209588	2	4	309	1	0	0	0	0	0	0	0	1	1104	535	19	1		1	ATIC	2	216209588	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	399786	216209588	26989785	113	29395											
SPEG	10290	broad.mit.edu	37	2	220334066	220334066	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:220334066G>A	ENST00000312358.7	+	13	3812	c.3680G>A	c.(3679-3681)cGc>cAc	p.R1227H	SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	1227	Ig-like 6.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		AATGGCCACCGCATCCAGAGC	0.642													36	37					0	0	1	0	0	A	220334066	G	A	220334066	3	1	309	1	0	0	0	0	1	0	0	0	15092	1087	38	1	3742	1	SPEG	2	220334066	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	4124478	220334066	22865307	114	29396											
CCL20	6364	broad.mit.edu	37	2	228678691	228678691	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:228678691G>A	ENST00000409189.3	+	1	134	c.64G>A	c.(64-66)Ggc>Agc	p.G22S	CCL20_ENST00000358813.4_Missense_Mutation_p.G22S	NM_001130046.1|NM_004591.2	NP_001123518.1|NP_004582.1	P78556	CCL20_HUMAN	chemokine (C-C motif) ligand 20	22					cell-cell signaling|chemotaxis|defense response to bacterium|immune response|inflammatory response|signal transduction	extracellular space	chemokine activity			cervix(1)|lung(2)	3		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;7.3e-11)|all cancers(144;4.13e-08)|Lung(261;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0115)		CCACCTCTGCGGCGAATCAGA	0.473													24	258					0	0	1	0	0	A	228678691	G	A	228678691	3	1	309	1	0	0	0	0	1	0	0	0	2912	1116	39	1	66	1	CCL20	2	228678691	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	8344625	228678691	14520682	115	29397											
HTR2B	3357	broad.mit.edu	37	2	231973400	231973401	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:231973400_231973401delTT	ENST00000258400.3	-	4	1788_1789	c.1276_1277delAA	c.(1276-1278)aagfs	p.K426fs	PSMD1_ENST00000409643.1_Intron|PSMD1_ENST00000488354.1_3'UTR|PSMD1_ENST00000373635.4_Intron|PSMD1_ENST00000308696.6_Intron	NM_000867.4	NP_000858.3	P41595	5HT2B_HUMAN	5-hydroxytryptamine (serotonin) receptor 2B, G protein-coupled	426					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cardiac muscle hypertrophy|cellular response to calcium ion|cellular response to temperature stimulus|cGMP biosynthetic process|embryonic morphogenesis|ERK1 and ERK2 cascade|G-protein coupled receptor internalization|heart morphogenesis|intestine smooth muscle contraction|negative regulation of apoptosis|negative regulation of autophagy|neural crest cell migration|phosphatidylinositol 3-kinase cascade|phosphatidylinositol biosynthetic process|phosphorylation|positive regulation of cell division|positive regulation of cytokine production|positive regulation of cytokine secretion|positive regulation of endothelial cell proliferation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAP kinase activity|positive regulation of nitric-oxide synthase activity|protein kinase C signaling cascade|regulation of behavior|release of sequestered calcium ion into cytosol|response to drug|vasoconstriction	cytoplasm|integral to membrane|plasma membrane	calcium channel activity|drug binding|G-protein alpha-subunit binding|phosphatidylinositol phospholipase C activity|Ras GTPase activator activity|serotonin binding|serotonin receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1)	11		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232)		Epithelial(121;4.48e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0141)	Chlorprothixene(DB01239)|Eletriptan(DB00216)|Fenfluramine(DB00574)|Methotrimeprazine(DB01403)|Minaprine(DB00805)|Quetiapine(DB01224)|Sumatriptan(DB00669)|Tegaserod(DB01079)|Triflupromazine(DB00508)	CTTGAAAAACTTAGAGTTCTCT	0.426													34	69	---	---	---	---						-	231973401	TT	-	231973400	7	5	309	1	0	1	0	1	0	0	0	0	7486	1609	56	0	172	0	HTR2B	2	231973400	Frame_Shift_Del	DEL	TT	TCGA-HT-8564-01A-11D-2395-08	3294709	231973400	11225973	116	29398											
DIS3L2	129563	broad.mit.edu	37	2	233128091	233128091	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:233128091G>A	ENST00000325385.7	+	13	1876	c.1600G>A	c.(1600-1602)Gga>Aga	p.G534R	DIS3L2_ENST00000409307.1_Missense_Mutation_p.G534R|DIS3L2_ENST00000273009.6_Intron	NM_152383.4	NP_689596.4	Q8IYB7	DI3L2_HUMAN	DIS3 mitotic control homolog (S. cerevisiae)-like 2	534							exonuclease activity|ribonuclease activity|RNA binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(2)|urinary_tract(1)	40		all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136)		Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149)		GAATCTCCACGGAATTGCCAA	0.522													17	121					0	0	1	0	0	A	233128091	G	A	233128091	3	1	309	1	0	0	0	0	1	0	0	0	4565	1117	39	1	1646	1	DIS3L2	2	233128091	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	1154691	233128091	10071282	117	29399											
CHRNG	1146	broad.mit.edu	37	2	233405401	233405401	+	Silent	SNP	G	G	A	rs149931943		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:233405401G>A	ENST00000389494.3	+	4	351	c.330G>A	c.(328-330)ccG>ccA	p.P110P	CHRNG_ENST00000389492.3_Silent_p.P110P	NM_005199.4	NP_005190.4	P07510	ACHG_HUMAN	cholinergic receptor, nicotinic, gamma (muscle)	110					muscle contraction	cell junction|postsynaptic membrane	acetylcholine receptor activity			breast(2)|endometrium(3)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;6.39e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00079)|LUSC - Lung squamous cell carcinoma(224;0.00757)|Lung(119;0.0086)		TGTGGCGGCCGGATATCGTGC	0.642													21	13					0	0	1	0	0	A	233405401	G	A	233405401	2	1	309	1	0	0	0	0	0	0	0	1	3418	1103	39	1		1	CHRNG	2	233405401	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	277310	233405401	9793972	118	29400											
DGKD	8527	broad.mit.edu	37	2	234371341	234371341	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:234371341G>A	ENST00000264057.2	+	26	3158	c.3146G>A	c.(3145-3147)cGc>cAc	p.R1049H	DGKD_ENST00000409813.3_Missense_Mutation_p.R1005H	NM_152879.2	NP_690618.2	Q16760	DGKD_HUMAN	diacylglycerol kinase, delta 130kDa	1049					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell growth|diacylglycerol metabolic process|endocytosis|epidermal growth factor receptor signaling pathway|multicellular organismal development|platelet activation|protein homooligomerization|protein transport|response to organic substance|second-messenger-mediated signaling	cytoplasm|cytoplasmic membrane-bounded vesicle|plasma membrane	ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1)	38		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	Phosphatidylserine(DB00144)	AGAGCTCTGCGCAGTGAGACG	0.597													38	249					0	0	1	0	0	A	234371341	G	A	234371341	3	1	309	1	0	0	0	0	1	0	0	0	4495	1087	38	1	3272	1	DGKD	2	234371341	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	965940	234371341	8828032	119	29401											
UGT1A1	54658	broad.mit.edu	37	2	234526381	234526381	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:234526381A>G	ENST00000373450.4	+	1	91	c.28A>G	c.(28-30)Att>Gtt	p.I10V		NM_019076.4	NP_061949.3	P22309	UD11_HUMAN							bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding			breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)	GACCAGCCCCATTCCCCTATG	0.572													57	64					0	0	1	0	0	G	234526381	A	G	234526381	3	3	309	1	0	0	0	0	1	0	0	0	17004	217	8	3		3	UGT1A1	2	234526381	Missense_Mutation	SNP	A	TCGA-HT-8564-01A-11D-2395-08	155040	234526381	8672992	120	29402											
HDAC4	9759	broad.mit.edu	37	2	239975226	239975226	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:239975226C>T	ENST00000345617.3	-	26	3936	c.3145G>A	c.(3145-3147)Gag>Aag	p.E1049K	HDAC4_ENST00000543185.1_Missense_Mutation_p.E633K	NM_006037.3	NP_006028.2	P56524	HDAC4_HUMAN	histone deacetylase 4	1049	Histone deacetylase.				B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent	histone deacetylase complex|transcriptional repressor complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|potassium ion binding|repressing transcription factor binding|zinc ion binding			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		TCTTCGTTCTCGCAAGTCTGA	0.662													53	63					0	0	1	0	0	T	239975226	C	T	239975226	3	4	309	1	0	0	0	0	1	0	0	0	7050	893	31	1	117	1	HDAC4	2	239975226	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	5448845	239975226	3224147	121	29403											
ANKMY1	51281	broad.mit.edu	37	2	241468876	241468876	+	Silent	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:241468876G>A	ENST00000391987.1	-	5	630	c.264C>T	c.(262-264)ccC>ccT	p.P88P	ANKMY1_ENST00000462004.1_Intron|ANKMY1_ENST00000536462.1_Intron|ANKMY1_ENST00000373320.4_Intron|ANKMY1_ENST00000272972.3_Silent_p.P88P|ANKMY1_ENST00000401804.1_Silent_p.P177P|ANKMY1_ENST00000373318.2_Intron|ANKMY1_ENST00000403283.1_Intron|ANKMY1_ENST00000405523.3_Intron|ANKMY1_ENST00000361678.4_Intron|ANKMY1_ENST00000405002.1_Intron|ANKMY1_ENST00000406958.1_Intron	NM_001282771.1	NP_001269700.1	Q9P2S6	ANKY1_HUMAN	ankyrin repeat and MYND domain containing 1	88							zinc ion binding			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	30		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476)		GGCTGCCATCGGGGTAGGTCT	0.602													27	50					0	0	1	0	0	A	241468876	G	A	241468876	2	1	309	1	0	0	0	0	0	0	0	1	630	1103	39	1		1	ANKMY1	2	241468876	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	1493650	241468876	1730497	122	29404											
GPR35	2859	broad.mit.edu	37	2	241570136	241570136	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:241570136G>A	ENST00000319838.5	+	6	1709	c.767G>A	c.(766-768)cGc>cAc	p.R256H	GPR35_ENST00000438013.2_Missense_Mutation_p.R287H|GPR35_ENST00000403859.1_Missense_Mutation_p.R256H|GPR35_ENST00000407714.1_Missense_Mutation_p.R256H|GPR35_ENST00000430267.1_Missense_Mutation_p.R256H	NM_001195381.1	NP_001182310.1	Q9HC97	GPR35_HUMAN	G protein-coupled receptor 35	256						integral to plasma membrane	G-protein coupled receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(1)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	17		all_epithelial(40;7.49e-12)|Breast(86;0.000148)|Renal(207;0.00571)|Ovarian(221;0.104)|all_neural(83;0.107)|all_hematologic(139;0.182)|all_lung(227;0.186)|Melanoma(123;0.238)		Epithelial(32;5.29e-32)|all cancers(36;1.38e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.02e-06)|Lung(119;0.00163)|Colorectal(34;0.00463)|LUSC - Lung squamous cell carcinoma(224;0.008)|COAD - Colon adenocarcinoma(134;0.031)		ACGATCCGTCGCGCCCTGTAC	0.622													124	145					0	0	1	0	0	A	241570136	G	A	241570136	3	1	309	1	0	0	0	0	1	0	0	0	6730	1087	38	1	769	1	GPR35	2	241570136	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	101260	241570136	1629237	123	29405											
KIF1A	547	broad.mit.edu	37	2	241680733	241680733	+	Silent	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:241680733G>A	ENST00000498729.2	-	35	3948	c.3702C>T	c.(3700-3702)taC>taT	p.Y1234Y	KIF1A_ENST00000320389.7_Silent_p.Y1133Y	NM_001244008.1	NP_001230937.1	Q12756	KIF1A_HUMAN	kinesin family member 1A	1133					anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		CCAGCAGGTCGTACTTGCAGT	0.662													11	14					0	0	1	0	0	A	241680733	G	A	241680733	2	1	309	1	0	0	0	0	0	0	0	1	8325	1140	40	1		1	KIF1A	2	241680733	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	110597	241680733	1518640	124	29406											
ANO7	50636	broad.mit.edu	37	2	242148714	242148714	+	Silent	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:242148714C>T	ENST00000274979.8	+	12	1357	c.1254C>T	c.(1252-1254)ttC>ttT	p.F418F	ANO7_ENST00000402430.3_Silent_p.F417F	NM_001001891.3	NP_001001891.2	Q6IWH7	ANO7_HUMAN	anoctamin 7	418						cell junction|chloride channel complex|cytosol	chloride channel activity			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	32						GCCGGCTGTTCGACCACGGCG	0.647													4	12					0	0	1	0	0	T	242148714	C	T	242148714	2	4	309	1	0	0	0	0	0	0	0	1	696	883	31	1		1	ANO7	2	242148714	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	467981	242148714	1050659	125	29407											
HDLBP	3069	broad.mit.edu	37	2	242169651	242169651	+	Missense_Mutation	SNP	C	C	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:242169651C>A	ENST00000391975.1	-	26	3735	c.3508G>T	c.(3508-3510)Gac>Tac	p.D1170Y	HDLBP_ENST00000310931.4_Missense_Mutation_p.D1170Y|HDLBP_ENST00000391976.2_Missense_Mutation_p.D1170Y|HDLBP_ENST00000427183.2_Missense_Mutation_p.D1137Y	NM_203346.3	NP_976221	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein	1170	KH 14.				cholesterol metabolic process|lipid transport	cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane	lipid binding|protein binding|RNA binding			breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)		CAGTTGGGGTCTGGGGCTCCG	0.557													5	118					0.00198382	0.00199564	1	1	0	A	242169651	C	A	242169651	3	1	309	1	0	0	0	0	1	0	0	0	7066	913	32	4	310	4	HDLBP	2	242169651	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	20937	242169651	1029722	126	29408											
STK25	10494	broad.mit.edu	37	2	242437037	242437037	+	Silent	SNP	G	G	A	rs67879108		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:242437037G>A	ENST00000316586.4	-	10	1447	c.1098C>T	c.(1096-1098)ttC>ttT	p.F366F	STK25_ENST00000535007.1_Silent_p.F272F|STK25_ENST00000403346.3_Silent_p.F366F|STK25_ENST00000478403.1_5'UTR|STK25_ENST00000405883.3_Silent_p.F289F|STK25_ENST00000401869.1_Silent_p.F366F|STK25_ENST00000543554.1_Silent_p.F272F|STK25_ENST00000405585.1_Silent_p.F289F	NM_001271977.1|NM_001271978.1|NM_001282308.1	NP_001258906.1|NP_001258907.1|NP_001269237.1	O00506	STK25_HUMAN	serine/threonine kinase 25	366					response to oxidative stress|signal transduction	Golgi apparatus	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			breast(1)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	10		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)		Epithelial(32;8.24e-34)|all cancers(36;3.46e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.6e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.1e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0839)		TCACCTCTCCGAAGACGGGCC	0.657													101	103					0	0	1	0	0	A	242437037	G	A	242437037	2	1	309	1	0	0	0	0	0	0	0	1	15350	1049	37	1		1	STK25	2	242437037	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	267386	242437037	762336	127	29409											
NR2C2	7182	broad.mit.edu	37	3	15065637	15065637	+	Silent	SNP	T	T	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr3:15065637T>A	ENST00000425241.1	+	7	1082	c.720T>A	c.(718-720)ctT>ctA	p.L240L	NR2C2_ENST00000323373.6_Silent_p.L259L|NR2C2_ENST00000393102.3_Silent_p.L240L|NR2C2_ENST00000406272.2_Silent_p.L240L			P49116	NR2C2_HUMAN	nuclear receptor subfamily 2, group C, member 2	240					cell differentiation|nervous system development|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|spermatogenesis	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding			breast(1)|endometrium(2)|large_intestine(5)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						CAGGTCTTCTTGATCCAGGGA	0.438													31	91					0	0	1	0	0	A	15065637	T	A	15065637	2	1	309	1	0	0	0	0	0	0	0	1	10671	1799	63	5		5	NR2C2	3	15065637	Silent	SNP	T	TCGA-HT-8564-01A-11D-2395-08		15065637	182956793	128	29410											
DCLK3	85443	broad.mit.edu	37	3	36779958	36779958	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr3:36779958C>T	ENST00000416516.2	-	2	683	c.193G>A	c.(193-195)Gaa>Aaa	p.E65K		NM_033403.1	NP_208382.1	Q9C098	DCLK3_HUMAN	doublecortin-like kinase 3	65						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	48						CCTGCAACTTCGCTGCAGCTC	0.612													180	45					0	0	1	0	0	T	36779958	C	T	36779958	3	4	309	1	0	0	0	0	1	0	0	0	4316	893	31	1	1769	1	DCLK3	3	36779958	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	21714321	36779958	161242472	129	29411											
MLH1	4292	broad.mit.edu	37	3	37038172	37038172	+	Missense_Mutation	SNP	A	A	C			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr3:37038172A>C	ENST00000231790.2	+	2	395	c.179A>C	c.(178-180)cAg>cCg	p.Q60P	MLH1_ENST00000492474.1_3'UTR|MLH1_ENST00000435176.1_5'UTR|MLH1_ENST00000455445.2_5'UTR|MLH1_ENST00000539477.1_5'UTR|MLH1_ENST00000536378.1_5'UTR|MLH1_ENST00000458205.2_5'UTR	NM_000249.3|NM_001258273.1	NP_000240.1|NP_001245202.1	P40692	MLH1_HUMAN	mutL homolog 1	60					mismatch repair|somatic hypermutation of immunoglobulin genes	chiasma|MutLalpha complex|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|protein binding			NS(1)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(54)|lung(13)|oesophagus(7)|ovary(6)|pancreas(5)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	127						AAGTTGATTCAGATCCAAGAC	0.413		1	"D, Mis, N, F, S"		"colorectal, endometrial, ovarian, CNS"	"colorectal, endometrial, ovarian, CNS"		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				51	11					0	0	1	0	0	C	37038172	A	C	37038172	3	2	309	1	0	0	0	0	1	0	0	0	9665	188	7	5	185	5	MLH1	3	37038172	Missense_Mutation	SNP	A	TCGA-HT-8564-01A-11D-2395-08	258214	37038172	160984258	130	29412											
PRSS50	29122	broad.mit.edu	37	3	46759103	46759103	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr3:46759103G>A	ENST00000460241.1	-	7	1801	c.131C>T	c.(130-132)cCg>cTg	p.P44L	PRSS50_ENST00000315170.7_Missense_Mutation_p.P44L			Q9UI38	TSP50_HUMAN	protease, serine, 50	44					proteolysis	endoplasmic reticulum	serine-type endopeptidase activity|threonine-type endopeptidase activity	p.P44L(1)		endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	11						CAGCGCCCCCGGGGCTTCCCC	0.706													36	13					0	0	1	0	0	A	46759103	G	A	46759103	3	1	309	1	0	0	0	0	1	0	0	0	12680	1116	39	1	1046	1	PRSS50	3	46759103	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	9720931	46759103	151263327	131	29413											
FBXW12	285231	broad.mit.edu	37	3	48422276	48422276	+	Missense_Mutation	SNP	G	G	A	rs144607752	byFrequency	TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr3:48422276G>A	ENST00000296438.5	+	8	1045	c.859G>A	c.(859-861)Gcc>Acc	p.A287T	FBXW12_ENST00000436231.1_Missense_Mutation_p.A130T|FBXW12_ENST00000415155.1_Missense_Mutation_p.A217T|FBXW12_ENST00000445170.1_Missense_Mutation_p.A268T|FBXW12_ENST00000468158.1_3'UTR	NM_207102.2	NP_996985.2	Q6X9E4	FBW12_HUMAN	F-box and WD repeat domain containing 12	287										breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		ATGTGCCAGCGCCTGCTGGAC	0.443													116	35					0	0	1	0	0	A	48422276	G	A	48422276	3	1	309	1	0	0	0	0	1	0	0	0	5798	1087	38	1	922	1	FBXW12	3	48422276	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	1663173	48422276	149600154	132	29414											
BSN	8927	broad.mit.edu	37	3	49699985	49699985	+	Silent	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr3:49699985C>T	ENST00000296452.4	+	6	10821	c.10707C>T	c.(10705-10707)tcC>tcT	p.S3569S		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	3569					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		GCGTGGTTTCCGACAGCGAAG	0.597													71	25					0	0	1	0	0	T	49699985	C	T	49699985	2	4	309	1	0	0	0	0	0	0	0	1	1532	639	23	1		1	BSN	3	49699985	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	1277709	49699985	148322445	133	29415											
SEMA3F	6405	broad.mit.edu	37	3	50224060	50224060	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr3:50224060G>A	ENST00000002829.3	+	18	2312	c.1828G>A	c.(1828-1830)Gtg>Atg	p.V610M	SEMA3F_ENST00000434342.1_Missense_Mutation_p.V579M|SEMA3F_ENST00000413852.1_Missense_Mutation_p.V511M	NM_004186.3	NP_004177.3	Q13275	SEM3F_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F	610	Ig-like C2-type.				axon guidance	extracellular space|membrane	chemorepellent activity|receptor activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2)	17				BRCA - Breast invasive adenocarcinoma(193;0.00013)|KIRC - Kidney renal clear cell carcinoma(197;0.00599)|Kidney(197;0.00688)		CAAGAATGCCGTGGAGTCTGT	0.627													22	68					0	0	1	0	0	A	50224060	G	A	50224060	3	1	309	1	0	0	0	0	1	0	0	0	14083	1145	40	1	1894	1	SEMA3F	3	50224060	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	524075	50224060	147798370	134	29416											
SLC38A3	10991	broad.mit.edu	37	3	50255683	50255683	+	RNA	DEL	C	C	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr3:50255683delC	ENST00000420502.1	+	0	1088							Q99624	S38A3_HUMAN	solute carrier family 38, member 3						cellular nitrogen compound metabolic process|sodium ion transport	integral to plasma membrane	antiporter activity|L-alanine transmembrane transporter activity|L-asparagine transmembrane transporter activity|L-glutamine transmembrane transporter activity|L-histidine transmembrane transporter activity|symporter activity			breast(1)|cervix(1)|endometrium(1)|lung(3)	6				BRCA - Breast invasive adenocarcinoma(193;0.000275)|KIRC - Kidney renal clear cell carcinoma(197;0.00548)|Kidney(197;0.00615)	L-Asparagine(DB00174)|L-Glutamine(DB00130)|L-Histidine(DB00117)	CCAACACCCACCCCCCCACTT	0.557													42	21	---	---	---	---						-	50255683	C	-	50255683	6	5	309	0	1	1	0	1	0	0	0	0	14660	522	18	0		0	SLC38A3	3	50255683	RNA	DEL	C	TCGA-HT-8564-01A-11D-2395-08	31623	50255683	147766747	135	29417											
IFRD2	7866	broad.mit.edu	37	3	50326252	50326252	+	Silent	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr3:50326252G>A	ENST00000436390.1	-	12	1499	c.1002C>T	c.(1000-1002)cgC>cgT	p.R334R	IFRD2_ENST00000336089.4_Silent_p.R500R|IFRD2_ENST00000417626.2_Silent_p.R334R|IFRD2_ENST00000429673.2_Silent_p.R398R			Q12894	IFRD2_HUMAN	interferon-related developmental regulator 2	398							binding			breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	14				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		GCAGCACGGCGCGGAAAGTAG	0.602													26	9					0	0	1	0	0	A	50326252	G	A	50326252	2	1	309	1	0	0	0	0	0	0	0	1	7598	1074	38	1		1	IFRD2	3	50326252	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	70569	50326252	147696178	136	29418											
DNAH1	25981	broad.mit.edu	37	3	52380763	52380763	+	Silent	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr3:52380763C>T	ENST00000420323.2	+	11	2193	c.1932C>T	c.(1930-1932)gaC>gaT	p.D644D		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	644	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		TCTGGGGTGACGACTTAATTA	0.602													25	7					0	0	1	0	0	T	52380763	C	T	52380763	2	4	309	1	0	0	0	0	0	0	0	1	4625	535	19	1		1	DNAH1	3	52380763	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	2054511	52380763	145641667	137	29419											
DNAH1	25981	broad.mit.edu	37	3	52407044	52407044	+	Silent	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr3:52407044C>T	ENST00000420323.2	+	44	7221	c.6960C>T	c.(6958-6960)ggC>ggT	p.G2320G		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	2320	AAA 3 (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		TGGACCACGGCGGCTGGTACG	0.612													10	44					0	0	1	0	0	T	52407044	C	T	52407044	2	4	309	1	0	0	0	0	0	0	0	1	4625	755	27	1		1	DNAH1	3	52407044	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	26281	52407044	145615386	138	29420											
FLNB	2317	broad.mit.edu	37	3	58108831	58108831	+	Silent	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr3:58108831C>T	ENST00000357272.4	+	21	3303	c.3138C>T	c.(3136-3138)caC>caT	p.H1046H	FLNB_ENST00000429972.2_Silent_p.H1046H|FLNB_ENST00000490882.1_Silent_p.H1046H|FLNB_ENST00000493452.1_Silent_p.H877H|FLNB_ENST00000358537.3_Silent_p.H1046H|FLNB_ENST00000419752.2_Silent_p.H877H|FLNB_ENST00000295956.4_Silent_p.H1046H|FLNB_ENST00000348383.5_Silent_p.H1046H			O75369	FLNB_HUMAN	filamin B, beta	1046					actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		TGAAGGCCCACGGTCCCGGCC	0.542													35	157					0	0	1	0	0	T	58108831	C	T	58108831	2	4	309	1	0	0	0	0	0	0	0	1	5967	535	19	1		1	FLNB	3	58108831	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	5701787	58108831	139913599	139	29421											
FAM107A	11170	broad.mit.edu	37	3	58552905	58552905	+	Silent	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr3:58552905C>T	ENST00000464064.1	-	3	441	c.357G>A	c.(355-357)acG>acA	p.T119T	FAM107A_ENST00000360997.2_Intron|FAM107A_ENST00000447756.2_Intron|FAM107A_ENST00000474531.1_Intron|FAM107A_ENST00000394481.1_Intron			O95990	F107A_HUMAN	family with sequence similarity 107, member A	119					regulation of cell growth	nucleus	protein binding			breast(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13				BRCA - Breast invasive adenocarcinoma(55;0.000189)|Kidney(10;0.000536)|KIRC - Kidney renal clear cell carcinoma(10;0.000716)|OV - Ovarian serous cystadenocarcinoma(275;0.154)		CTGGAGGATGCGTGGTCCCTG	0.617													12	58					0	0	1	0	0	T	58552905	C	T	58552905	2	4	309	1	0	0	0	0	0	0	0	1	5420	783	27	1		1	FAM107A	3	58552905	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	444074	58552905	139469525	140	29422											
ADAMTS9	56999	broad.mit.edu	37	3	64536656	64536656	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr3:64536656C>T	ENST00000498707.1	-	31	5123	c.4781G>A	c.(4780-4782)cGc>cAc	p.R1594H	ADAMTS9_ENST00000295903.4_Missense_Mutation_p.R1566H	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	1594	TSP type-1 13.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		CACGTCACAGCGTGCCCCATG	0.552													156	64					0	0	1	0	0	T	64536656	C	T	64536656	3	4	309	1	0	0	0	0	1	0	0	0	272	768	27	1	1062	1	ADAMTS9	3	64536656	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	5983751	64536656	133485774	141	29423											
ZBTB20	26137	broad.mit.edu	37	3	114058003	114058003	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr3:114058003delG	ENST00000462705.1	-	12	2677	c.1856delC	c.(1855-1857)cctfs	p.P619fs	ZBTB20_ENST00000464560.1_Frame_Shift_Del_p.P619fs|ZBTB20_ENST00000474710.1_Frame_Shift_Del_p.P692fs|ZBTB20_ENST00000481632.1_Frame_Shift_Del_p.P619fs|ZBTB20_ENST00000393785.2_Frame_Shift_Del_p.P619fs|ZBTB20_ENST00000471418.1_Frame_Shift_Del_p.P619fs|ZBTB20_ENST00000357258.3_Frame_Shift_Del_p.P619fs	NM_001164343.1	NP_001157815.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	692					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.P619fs*43(1)		breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		TGTGCCTGCAGGGGGGGTCCC	0.632													88	28	---	---	---	---						-	114058003	G	-	114058003	7	5	309	1	0	1	0	1	0	0	0	0	17588	1000	35	0	154	0	ZBTB20	3	114058003	Frame_Shift_Del	DEL	G	TCGA-HT-8564-01A-11D-2395-08	49521347	114058003	83964427	142	29424											
ADCY5	111	broad.mit.edu	37	3	123036943	123036943	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr3:123036943G>A	ENST00000462833.1	-	11	3490	c.2278C>T	c.(2278-2280)Cga>Tga	p.R760*	ADCY5_ENST00000491190.1_Nonsense_Mutation_p.R393*|ADCY5_ENST00000309879.5_Nonsense_Mutation_p.R410*	NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN	adenylate cyclase 5	760					activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		GCACCAAATCGGTCGTCTACC	0.602													40	11					0	0	1	0	0	A	123036943	G	A	123036943	4	1	309	1	0	0	0	0	0	1	0	0	296	1124	39	1	1551	1	ADCY5	3	123036943	Nonsense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	8978940	123036943	74985487	143	29425											
UROC1	131669	broad.mit.edu	37	3	126216983	126216983	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr3:126216983C>T	ENST00000290868.2	-	14	1402	c.1349G>A	c.(1348-1350)cGc>cAc	p.R450H	UROC1_ENST00000383579.3_Missense_Mutation_p.R510H	NM_144639.2	NP_653240.1	Q96N76	HUTU_HUMAN	urocanate hydratase 1	450			R -> C (in UROD; loss of activity).		histidine catabolic process	cytosol	urocanate hydratase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1)	39				GBM - Glioblastoma multiforme(114;0.17)		GCACACCCAGCGGAAAGGCCC	0.627													12	360					0	0	1	0	0	T	126216983	C	T	126216983	3	4	309	1	0	0	0	0	1	0	0	0	17088	768	27	1	709	1	UROC1	3	126216983	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	3180040	126216983	71805447	144	29426											
ACAD11	84129	broad.mit.edu	37	3	132361582	132361582	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr3:132361582A>G	ENST00000264990.6	-	3	1285	c.314T>C	c.(313-315)aTa>aCa	p.I105T	ACAD11_ENST00000489991.1_Intron|ACAD11_ENST00000545291.1_5'UTR|ACAD11_ENST00000481970.2_Missense_Mutation_p.I105T|ACAD11_ENST00000355458.3_Missense_Mutation_p.I105T	NM_032169.4	NP_115545			acyl-CoA dehydrogenase family, member 11											breast(2)|endometrium(6)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	36						GCAGTACAGTATAGGCTTGGG	0.328													107	31					0	0	1	0	0	G	132361582	A	G	132361582	3	3	309	1	0	0	0	0	1	0	0	0	109	449	16	3	2100	3	ACAD11	3	132361582	Missense_Mutation	SNP	A	TCGA-HT-8564-01A-11D-2395-08	6144599	132361582	65660848	145	29427											
NPHP3	27031	broad.mit.edu	37	3	132403500	132403502	+	In_Frame_Del	DEL	TTC	TTC	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr3:132403500_132403502delTTC	ENST00000337331.5	-	24	3552_3554	c.3466_3468delGAA	c.(3466-3468)gaadel	p.E1156del	NPHP3_ENST00000326682.8_3'UTR	NM_153240.4	NP_694972.3	Q7Z494	NPHP3_HUMAN	nephronophthisis 3 (adolescent)	1156					maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway|Wnt receptor signaling pathway	cilium	protein binding			NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TTTCATAAAGTTCTTCTGCTTTA	0.419													40	20	---	---	---	---						-	132403502	TTC	-	132403500	7	5	309	1	0	1	0	1	0	0	0	0	10627	1722	60	0	540	0	NPHP3	3	132403500	In_Frame_Del	DEL	TTC	TCGA-HT-8564-01A-11D-2395-08	41918	132403500	65618930	146	29428											
ZBTB38	253461	broad.mit.edu	37	3	141163946	141163946	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr3:141163946G>A	ENST00000514251.1	+	4	2995	c.2716G>A	c.(2716-2718)Gca>Aca	p.A906T	ZBTB38_ENST00000321464.5_Missense_Mutation_p.A907T|ZBTB38_ENST00000441582.2_Missense_Mutation_p.A906T			Q8NAP3	ZBT38_HUMAN	zinc finger and BTB domain containing 38	906					positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	41						GTTCGATGACGCAAGTGACCA	0.502													44	17					0	0	1	0	0	A	141163946	G	A	141163946	3	1	309	1	0	0	0	0	1	0	0	0	17598	1087	38	1	2718	1	ZBTB38	3	141163946	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	8760446	141163946	56858484	147	29429											
ZBTB38	253461	broad.mit.edu	37	3	141164403	141164403	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr3:141164403G>A	ENST00000514251.1	+	4	3452	c.3173G>A	c.(3172-3174)cGc>cAc	p.R1058H	ZBTB38_ENST00000321464.5_Missense_Mutation_p.R1059H|ZBTB38_ENST00000441582.2_Missense_Mutation_p.R1058H			Q8NAP3	ZBT38_HUMAN	zinc finger and BTB domain containing 38	1058					positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	41						AAACATGAACGCATCCACCTG	0.478													71	33					0	0	1	0	0	A	141164403	G	A	141164403	3	1	309	1	0	0	0	0	1	0	0	0	17598	1087	38	1	3175	1	ZBTB38	3	141164403	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	457	141164403	56858027	148	29430											
AADACL2	344752	broad.mit.edu	37	3	151461914	151461914	+	Missense_Mutation	SNP	C	C	T	rs145856421		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr3:151461914C>T	ENST00000356517.3	+	3	504	c.395C>T	c.(394-396)aCg>aTg	p.T132M		NM_207365.3	NP_997248.2	Q6P093	ADCL2_HUMAN	arylacetamide deacetylase-like 2	132						extracellular region|integral to membrane	carboxylesterase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(13)|skin(2)	24			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			AATAGATGGACGGCAAACACG	0.358													72	25					0	0	1	0	0	T	151461914	C	T	151461914	3	4	309	1	0	0	0	0	1	0	0	0	11	536	19	1	405	1	AADACL2	3	151461914	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	10297511	151461914	46560516	149	29431											
MCCC1	56922	broad.mit.edu	37	3	182740306	182740306	+	Missense_Mutation	SNP	A	A	G	rs143892743		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr3:182740306A>G	ENST00000492597.1	-	15	2143	c.1441T>C	c.(1441-1443)Tac>Cac	p.Y481H	MCCC1_ENST00000489909.1_5'UTR|MCCC1_ENST00000539926.1_3'UTR|MCCC1_ENST00000265594.4_Missense_Mutation_p.Y590H			Q96RQ3	MCCA_HUMAN	methylcrotonoyl-CoA carboxylase 1 (alpha)	590	Biotin carboxylation.				biotin metabolic process|leucine catabolic process	mitochondrial inner membrane|mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|methylcrotonoyl-CoA carboxylase activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(17)|ovary(1)|pancreas(2)|prostate(1)|skin(2)	40	all_cancers(143;1.84e-14)|Ovarian(172;0.0355)		all cancers(12;1.8e-44)|Epithelial(37;3.23e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;5.07e-21)		Biotin(DB00121)	CCCTCGCTGTAAAGATTACCA	0.313													15	57					0	0	1	0	0	G	182740306	A	G	182740306	3	3	309	1	0	0	0	0	1	0	0	0	9424	362	13	3	425	3	MCCC1	3	182740306	Missense_Mutation	SNP	A	TCGA-HT-8564-01A-11D-2395-08	31278392	182740306	15282124	150	29432											
DGKQ	1609	broad.mit.edu	37	4	960969	960969	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr4:960969G>A	ENST00000273814.3	-	9	1241	c.1168C>T	c.(1168-1170)Cgg>Tgg	p.R390W		NM_001347.3	NP_001338.2	P52824	DGKQ_HUMAN	diacylglycerol kinase, theta 110kDa	390					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|platelet activation|protein kinase C signaling cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to ATP|thrombin receptor signaling pathway	cytoskeleton|cytosol|nuclear speck|plasma membrane	activating transcription factor binding|ATP binding|diacylglycerol kinase activity|kinase binding|metal ion binding|phospholipase binding			breast(1)|endometrium(2)|kidney(2)|lung(2)|prostate(2)	9			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			GGCAGAGCCCGGATGACCCAG	0.711													3	19					0	0	1	0	0	A	960969	G	A	960969	3	1	309	1	0	0	0	0	1	0	0	0	4501	1115	39	1	1720	1	DGKQ	4	960969	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08		960969	190193307	151	29433											
ZFYVE28	57732	broad.mit.edu	37	4	2306942	2306942	+	Silent	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr4:2306942C>T	ENST00000290974.2	-	8	1464	c.1125G>A	c.(1123-1125)gcG>gcA	p.A375A	RP11-478C1.7_ENST00000510632.1_RNA|ZFYVE28_ENST00000511071.1_Silent_p.A345A|ZFYVE28_ENST00000515312.1_Silent_p.A305A	NM_020972.2	NP_066023.2	Q9HCC9	LST2_HUMAN	zinc finger, FYVE domain containing 28	375					negative regulation of epidermal growth factor receptor activity	cytosol|early endosome membrane	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	31						GGCTGCCCTCCGCTCCTGGCC	0.667													48	84					0	0	1	0	0	T	2306942	C	T	2306942	2	4	309	1	0	0	0	0	0	0	0	1	17728	639	23	1		1	ZFYVE28	4	2306942	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	1345973	2306942	188847334	152	29434											
NOP14	8602	broad.mit.edu	37	4	2943380	2943380	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr4:2943380C>T	ENST00000416614.2	-	15	2193	c.2128G>A	c.(2128-2130)Gcc>Acc	p.A710T	NOP14-AS1_ENST00000505731.1_RNA|NOP14-AS1_ENST00000503709.1_RNA|NOP14_ENST00000507120.1_5'UTR|NOP14_ENST00000398071.4_Missense_Mutation_p.A710T|NOP14-AS1_ENST00000512712.2_RNA|NOP14_ENST00000502735.1_Missense_Mutation_p.A710T|NOP14_ENST00000314262.6_Missense_Mutation_p.A710T|NOP14-AS1_ENST00000507702.1_RNA|NOP14-AS1_ENST00000515194.1_RNA			P78316	NOP14_HUMAN	NOP14 nucleolar protein	710					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	mitochondrion|Noc4p-Nop14p complex|small-subunit processome	snoRNA binding			NS(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(12)|pancreas(1)|skin(1)|urinary_tract(1)	30						CCCATGATGGCGTGGAAGGAT	0.662													19	33					0	0	1	0	0	T	2943380	C	T	2943380	3	4	309	1	0	0	0	0	1	0	0	0	10583	768	27	1	461	1	NOP14	4	2943380	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	636438	2943380	188210896	153	29435											
GRK4	2868	broad.mit.edu	37	4	3037185	3037185	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr4:3037185G>A	ENST00000398052.4	+	13	1685	c.1342G>A	c.(1342-1344)Gtg>Atg	p.V448M	GRK4_ENST00000509545.1_Intron|GRK4_ENST00000398051.4_Missense_Mutation_p.V416M|GRK4_ENST00000345167.6_Missense_Mutation_p.V416M|GRK4_ENST00000504933.1_Missense_Mutation_p.V448M	NM_182982.2	NP_892027.2	P32298	GRK4_HUMAN	G protein-coupled receptor kinase 4	448	Protein kinase.					cell cortex	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity			lung(1)|upper_aerodigestive_tract(1)	2				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		GCAGCACCCCGTGTTCAAGGA	0.582													67	121					0	0	1	0	0	A	3037185	G	A	3037185	3	1	309	1	0	0	0	0	1	0	0	0	6832	1145	40	1	1392	1	GRK4	4	3037185	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	93805	3037185	188117091	154	29436											
MSX1	4487	broad.mit.edu	37	4	4864532	4864532	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr4:4864532C>T	ENST00000382723.4	+	2	808	c.574C>T	c.(574-576)Cgc>Tgc	p.R192C	MSX1_ENST00000468421.1_3'UTR	NM_002448.3	NP_002439.2	P28360	MSX1_HUMAN	msh homeobox 1	186					apoptotic nuclear change|face morphogenesis|negative regulation of cell growth|odontogenesis of dentine-containing tooth|positive regulation of apoptosis|protein localization to nucleus|protein stabilization	nucleus	p53 binding|sequence-specific DNA binding transcription factor activity			endometrium(3)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	11				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		GCGCAAGTTCCGCCAGAAGCA	0.657													11	168					0	0	1	0	0	T	4864532	C	T	4864532	3	4	309	1	0	0	0	0	1	0	0	0	9943	652	23	1	580	1	MSX1	4	4864532	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	1827347	4864532	186289744	155	29437											
STK32B	55351	broad.mit.edu	37	4	5418644	5418644	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr4:5418644G>A	ENST00000282908.5	+	6	967	c.545G>A	c.(544-546)gGc>gAc	p.G182D	STK32B_ENST00000510398.1_Missense_Mutation_p.G135D|STK32B_ENST00000512636.1_Intron	NM_018401.1	NP_060871.1	Q9NY57	ST32B_HUMAN	serine/threonine kinase 32B	182	Protein kinase.						ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	39						TCCATGGCTGGCACCAAGCCC	0.493													3	27					0	0	1	0	0	A	5418644	G	A	5418644	3	1	309	1	0	0	0	0	1	0	0	0	15354	1203	42	2	567	2	STK32B	4	5418644	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	554112	5418644	185735632	156	29438											
JAKMIP1	152789	broad.mit.edu	37	4	6052396	6052397	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr4:6052396_6052397delCT	ENST00000409021.3	-	14	2265_2266	c.1816_1817delAG	c.(1816-1818)aggfs	p.R607fs	JAKMIP1_ENST00000409371.3_Frame_Shift_Del_p.R422fs	NM_001099433.1	NP_001092903.1	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein 1	379	Mediates interaction with TYK2 and GABBR1.				protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding			NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TGGCGACCTCCTCTCTCTCTCC	0.485													3	5	---	---	---	---						-	6052397	CT	-	6052396	7	5	309	1	0	1	0	1	0	0	0	0	7984	681	24	0	710	0	JAKMIP1	4	6052396	Frame_Shift_Del	DEL	CT	TCGA-HT-8564-01A-11D-2395-08	633752	6052396	185101880	157	29439											
MAN2B2	23324	broad.mit.edu	37	4	6588894	6588894	+	Splice_Site	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr4:6588894G>A	ENST00000285599.3	+	4	599	c.563G>A	c.(562-564)cGg>cAg	p.R188Q	MAN2B2_ENST00000504248.1_Splice_Site_p.R188Q	NM_015274.1	NP_056089.1	Q9Y2E5	MA2B2_HUMAN	mannosidase, alpha, class 2B, member 2	188					mannose metabolic process	extracellular region	alpha-mannosidase activity|carbohydrate binding|zinc ion binding			breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	30						CAGGAGGCCCGGGTGAGTGGT	0.642													22	42					0	0	1	0	0	A	6588894	G	A	6588894	5	1	309	1	0	0	0	0	0	0	1	0	9267	1130	39	1	577	1	MAN2B2	4	6588894	Splice_Site	SNP	G	TCGA-HT-8564-01A-11D-2395-08	536498	6588894	184565382	158	29440											
HTRA3	94031	broad.mit.edu	37	4	8293224	8293224	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr4:8293224G>A	ENST00000307358.2	+	4	1040	c.836G>A	c.(835-837)cGg>cAg	p.R279Q	HTRA3_ENST00000382512.3_Missense_Mutation_p.R279Q	NM_053044.3	NP_444272.1	P83110	HTRA3_HUMAN	HtrA serine peptidase 3	279	Serine protease.				proteolysis|regulation of cell growth	extracellular region	insulin-like growth factor binding|serine-type endopeptidase activity			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|prostate(1)|urinary_tract(1)	18						ACTGCCCAGCGGGAGGGCAGG	0.657													38	37					0	0	1	0	0	A	8293224	G	A	8293224	3	1	309	1	0	0	0	0	1	0	0	0	7499	1116	39	1	850	1	HTRA3	4	8293224	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	1704330	8293224	182861052	159	29441											
DRD5	1816	broad.mit.edu	37	4	9783925	9783925	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr4:9783925C>T	ENST00000304374.2	+	1	668	c.272C>T	c.(271-273)gCg>gTg	p.A91V		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5	91					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane				NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)	CTTTTCGTGGCGCTGCTGGTC	0.632													24	101					0	0	1	0	0	T	9783925	C	T	9783925	3	4	309	1	0	0	0	0	1	0	0	0	4786	768	27	1	274	1	DRD5	4	9783925	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	1490701	9783925	181370351	160	29442											
PACRGL	133015	broad.mit.edu	37	4	20715162	20715162	+	Splice_Site	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr4:20715162C>T	ENST00000360916.5	+	7	1000	c.609C>T	c.(607-609)agC>agT	p.S203S	PACRGL_ENST00000502938.1_Intron|PACRGL_ENST00000538990.1_Splice_Site_p.S105S|PACRGL_ENST00000513459.1_Splice_Site_p.S150S|PACRGL_ENST00000444671.2_Splice_Site_p.S105S|PACRGL_ENST00000507634.1_Splice_Site_p.S203S|PACRGL_ENST00000503585.1_Splice_Site_p.S203S|PACRGL_ENST00000295290.8_Splice_Site_p.S203S|PACRGL_ENST00000502374.1_Splice_Site_p.S150S	NM_145048.3	NP_659485.1	Q8N7B6	PACRL_HUMAN	PARK2 co-regulated-like	230							binding			endometrium(2)|lung(7)|prostate(1)	10						TGCTTACAAGCGTAAGTACTG	0.373													34	53					0	0	1	0	0	T	20715162	C	T	20715162	5	4	309	1	0	0	0	0	0	0	1	0	11418	782	27	1	631	1	PACRGL	4	20715162	Splice_Site	SNP	C	TCGA-HT-8564-01A-11D-2395-08	10931237	20715162	170439114	161	29443											
TMEM156	80008	broad.mit.edu	37	4	38990512	38990512	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr4:38990512C>T	ENST00000381938.3	-	4	805	c.698G>A	c.(697-699)cGc>cAc	p.R233H		NM_024943.1	NP_079219.1	Q8N614	TM156_HUMAN	transmembrane protein 156	233						integral to membrane				endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|stomach(1)	10						AAGTATTTTGCGGATAGTGAG	0.358													83	151					0	0	1	0	0	T	38990512	C	T	38990512	3	4	309	1	0	0	0	0	1	0	0	0	16133	768	27	1	204	1	TMEM156	4	38990512	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	18275350	38990512	152163764	162	29444											
STAP1	26228	broad.mit.edu	37	4	68447189	68447189	+	Splice_Site	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr4:68447189C>T	ENST00000265404.2	+	5	612	c.530C>T	c.(529-531)gCa>gTa	p.A177V	STAP1_ENST00000396225.1_Splice_Site_p.A177V	NM_012108.2	NP_036240.1	Q9ULZ2	STAP1_HUMAN	signal transducing adaptor family member 1	177	SH2.				cellular membrane fusion|intracellular protein transport	cytoplasm				NS(1)|large_intestine(1)|liver(1)|lung(7)|skin(1)|urinary_tract(1)	12						CCTATGCCAGCGTAAGTGCAC	0.393													56	131					0	0	1	0	0	T	68447189	C	T	68447189	5	4	309	1	0	0	0	0	0	0	1	0	15308	782	27	1	548	1	STAP1	4	68447189	Splice_Site	SNP	C	TCGA-HT-8564-01A-11D-2395-08	29456677	68447189	122707087	163	29445											
UGT2B11	10720	broad.mit.edu	37	4	70079942	70079942	+	Missense_Mutation	SNP	G	G	A	rs148268917		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr4:70079942G>A	ENST00000446444.1	-	1	507	c.499C>T	c.(499-501)Cgg>Tgg	p.R167W	RP11-704M14.1_ENST00000505646.1_RNA|RP11-704M14.1_ENST00000504301.1_RNA	NM_001073.1	NP_001064.1	O75310	UDB11_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B11	167					estrogen metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	p.R167R(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	42						TACACAAACCGTATGTTAAGT	0.418													51	93					0	0	1	0	0	A	70079942	G	A	70079942	3	1	309	1	0	0	0	0	1	0	0	0	17017	1144	40	1	1114	1	UGT2B11	4	70079942	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	1632753	70079942	121074334	164	29446											
SHROOM3	57619	broad.mit.edu	37	4	77662039	77662039	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr4:77662039C>T	ENST00000296043.6	+	5	3666	c.2713C>T	c.(2713-2715)Cgg>Tgg	p.R905W		NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	905					apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			GCCCGAGTGGCGGGACAGGCC	0.711													11	19					0	0	1	0	0	T	77662039	C	T	77662039	3	4	309	1	0	0	0	0	1	0	0	0	14350	759	27	1	2731	1	SHROOM3	4	77662039	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	7582097	77662039	113492237	165	29447											
BMP2K	55589	broad.mit.edu	37	4	79793824	79793824	+	Silent	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr4:79793824G>A	ENST00000335016.5	+	13	1831	c.1665G>A	c.(1663-1665)ccG>ccA	p.P555P	BMP2K_ENST00000502871.1_Silent_p.P555P	NM_198892.1	NP_942595.1	Q9NSY1	BMP2K_HUMAN	BMP2 inducible kinase	555	Gln/His-rich.					nucleus	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	13						AACATCAGCCGTCTCAACAAC	0.443													36	63					0	0	1	0	0	A	79793824	G	A	79793824	2	1	309	1	0	0	0	0	0	0	0	1	1459	1132	40	1		1	BMP2K	4	79793824	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	2131785	79793824	111360452	166	29448											
PRKG2	5593	broad.mit.edu	37	4	82026998	82026998	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr4:82026998G>A	ENST00000395578.1	-	16	2148	c.2032C>T	c.(2032-2034)Cga>Tga	p.R678*	PRKG2_ENST00000545647.1_Nonsense_Mutation_p.R258*|PRKG2_ENST00000264399.1_Nonsense_Mutation_p.R678*|PRKG2_ENST00000418486.2_Nonsense_Mutation_p.R649*|PRKG2_ENST00000509169.1_5'UTR			Q13237	KGP2_HUMAN	protein kinase, cGMP-dependent, type II	678	Protein kinase.				platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity			NS(1)|breast(4)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	37						TCCTCAGGTCGTCGTGTTATC	0.423													28	121					0	0	1	0	0	A	82026998	G	A	82026998	4	1	309	1	0	0	0	0	0	1	0	0	12575	1153	40	1	272	1	PRKG2	4	82026998	Nonsense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	2233174	82026998	109127278	167	29449											
EGF	1950	broad.mit.edu	37	4	110915913	110915913	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr4:110915913G>T	ENST00000265171.5	+	20	3327	c.2882G>T	c.(2881-2883)aGg>aTg	p.R961M	EGF_ENST00000503392.1_Missense_Mutation_p.R920M|EGF_ENST00000509793.1_Missense_Mutation_p.R919M	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN	epidermal growth factor	961					angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity			breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sulindac(DB00605)	CCTCACCTCAGGGAAGATGAC	0.428													35	152					1.90571e-15	1.95494e-15	1	1	0	T	110915913	G	T	110915913	3	4	309	1	0	0	0	0	1	0	0	0	4988	1000	35	4	2960	4	EGF	4	110915913	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	28888915	110915913	80238363	168	29450											
QRFPR	84109	broad.mit.edu	37	4	122301462	122301462	+	Splice_Site	DEL	C	C	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr4:122301462delC	ENST00000394427.2	-	1	752		c.e1+1		QRFPR_ENST00000334383.5_Splice_Site	NM_198179.2	NP_937822.2	Q96P65	QRFPR_HUMAN	pyroglutamylated RFamide peptide receptor							plasma membrane	neuropeptide Y receptor activity			endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(2)|skin(3)|stomach(1)	28						GCGACTCTTACCCCCCAGCCA	0.542													8	165	---	---	---	---						-	122301462	C	-	122301462	8	5	309	1	0	1	0	1	0	0	1	0	12930	521	18	0	978	0	QRFPR	4	122301462	Splice_Site	DEL	C	TCGA-HT-8564-01A-11D-2395-08	11385549	122301462	68852814	169	29451											
TRPC3	7222	broad.mit.edu	37	4	122835949	122835949	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr4:122835949C>T	ENST00000264811.5	-	3	1526	c.1108G>A	c.(1108-1110)Gca>Aca	p.A370T	TRPC3_ENST00000379645.3_Missense_Mutation_p.A443T|TRPC3_ENST00000513531.1_Intron	NM_003305.2	NP_003296.1	Q13507	TRPC3_HUMAN	transient receptor potential cation channel, subfamily C, member 3	358					axon guidance|phototransduction|platelet activation	integral to plasma membrane	protein binding|store-operated calcium channel activity			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						CTGCAAGGTGCGATCCAGTAG	0.483													29	46					0	0	1	0	0	T	122835949	C	T	122835949	3	4	309	1	0	0	0	0	1	0	0	0	16640	768	27	1	1474	1	TRPC3	4	122835949	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	534487	122835949	68318327	170	29452											
SLC25A31	83447	broad.mit.edu	37	4	128651877	128651877	+	Silent	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr4:128651877C>T	ENST00000281154.4	+	1	345	c.177C>T	c.(175-177)ccC>ccT	p.P59P		NM_031291.2	NP_112581.1	Q9H0C2	ADT4_HUMAN	solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 31	59					transmembrane transport	cilium|flagellum|integral to membrane|mitochondrial inner membrane	binding|transporter activity			NS(1)|breast(1)|large_intestine(10)|lung(8)|skin(2)	22						AGATCAGCCCCGAGGCGCGGT	0.701													37	50					0	0	1	0	0	T	128651877	C	T	128651877	2	4	309	1	0	0	0	0	0	0	0	1	14550	639	23	1		1	SLC25A31	4	128651877	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	5815928	128651877	62502399	171	29453											
LRBA	987	broad.mit.edu	37	4	151829999	151829999	+	Missense_Mutation	SNP	T	T	G			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr4:151829999T>G	ENST00000535741.1	-	10	1645	c.1172A>C	c.(1171-1173)aAa>aCa	p.K391T	LRBA_ENST00000510413.1_Missense_Mutation_p.K391T|LRBA_ENST00000357115.3_Missense_Mutation_p.K391T|LRBA_ENST00000507224.1_Missense_Mutation_p.K391T			P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	391						endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					TGCTTTGAATTTAAATGTACC	0.363													19	64					0	0	1	0	0	G	151829999	T	G	151829999	3	3	309	1	0	0	0	0	1	0	0	0	8976	1841	64	5	7615	5	LRBA	4	151829999	Missense_Mutation	SNP	T	TCGA-HT-8564-01A-11D-2395-08	23178122	151829999	39324277	172	29454											
LRBA	987	broad.mit.edu	37	4	151850067	151850067	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr4:151850067G>A	ENST00000535741.1	-	3	840	c.367C>T	c.(367-369)Cgg>Tgg	p.R123W	LRBA_ENST00000510413.1_Missense_Mutation_p.R123W|LRBA_ENST00000357115.3_Missense_Mutation_p.R123W|LRBA_ENST00000507224.1_Missense_Mutation_p.R123W			P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	123						endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					TGAAGATTCCGTATGCTTTTC	0.388													33	144					0	0	1	0	0	A	151850067	G	A	151850067	3	1	309	1	0	0	0	0	1	0	0	0	8976	1144	40	1	8448	1	LRBA	4	151850067	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	20068	151850067	39304209	173	29455											
SFRP2	6423	broad.mit.edu	37	4	154709690	154709690	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr4:154709690C>T	ENST00000274063.4	-	1	582	c.298G>A	c.(298-300)Gcc>Acc	p.A100T		NM_003013.2	NP_003004.1	Q96HF1	SFRP2_HUMAN	secreted frizzled-related protein 2	100	FZ.				brain development|cardiac left ventricle morphogenesis|cell-cell signaling|dermatome development|hemopoietic stem cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|negative regulation of cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of transcription, DNA-dependent|outflow tract morphogenesis|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell adhesion mediated by integrin|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of fat cell differentiation|positive regulation of peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of stem cell division|sclerotome development	cytoplasm|extracellular matrix|extracellular space|plasma membrane	fibronectin binding|integrin binding|PDZ domain binding|receptor agonist activity|Wnt receptor activity|Wnt-protein binding			breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(1)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	16	all_hematologic(180;0.093)	Renal(120;0.117)				CAGACGGGGGCGAAGAGCGAG	0.647													37	220					0	0	1	0	0	T	154709690	C	T	154709690	3	4	309	1	0	0	0	0	1	0	0	0	14216	768	27	1	601	1	SFRP2	4	154709690	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	2859623	154709690	36444586	174	29456											
FGB	2244	broad.mit.edu	37	4	155490927	155490927	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr4:155490927C>T	ENST00000302068.4	+	7	1283	c.1220C>T	c.(1219-1221)aCg>aTg	p.T407M	FGB_ENST00000509493.1_Missense_Mutation_p.T188M|FGB_ENST00000502545.1_Intron	NM_005141.4	NP_005132.2	P02675	FIBB_HUMAN	fibrinogen beta chain	407	Fibrinogen C-terminal.				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen|soluble fraction	chaperone binding|eukaryotic cell surface binding|protein binding, bridging|receptor binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(22)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	TTCTTCAGCACGTATGACAGA	0.423													46	76					0	0	1	0	0	T	155490927	C	T	155490927	3	4	309	1	0	0	0	0	1	0	0	0	5864	536	19	1	1246	1	FGB	4	155490927	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	781237	155490927	35663349	175	29457											
ACSL1	2180	broad.mit.edu	37	4	185724474	185724474	+	Splice_Site	SNP	C	C	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr4:185724474C>A	ENST00000515030.1	-	2	520	c.195G>T	c.(193-195)gcG>gcT	p.A65A	ACSL1_ENST00000513317.1_Splice_Site_p.A65A|ACSL1_ENST00000504342.1_Splice_Site_p.A65A|ACSL1_ENST00000437665.3_5'UTR|ACSL1_ENST00000281455.2_Splice_Site_p.A65A|ACSL1_ENST00000454703.2_Intron|ACSL1_ENST00000507295.1_Splice_Site_p.A65A|ACSL1_ENST00000504900.1_Splice_Site_p.A65A			P33121	ACSL1_HUMAN	acyl-CoA synthetase long-chain family member 1	65					digestion|fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|regulation of fatty acid oxidation|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(17)|ovary(2)|prostate(1)|skin(2)	38		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00172)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0315)|all_neural(102;0.107)|Medulloblastoma(177;0.146)		all cancers(43;1.33e-28)|Epithelial(43;5.3e-25)|OV - Ovarian serous cystadenocarcinoma(60;4.88e-11)|Colorectal(24;3.59e-06)|STAD - Stomach adenocarcinoma(60;2.72e-05)|GBM - Glioblastoma multiforme(59;2.83e-05)|BRCA - Breast invasive adenocarcinoma(30;7.66e-05)|COAD - Colon adenocarcinoma(29;0.000538)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.0419)	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	CTCCACTCACCGCCACTTCCA	0.557													12	15					7.03913e-09	7.16653e-09	1	1	0	A	185724474	C	A	185724474	5	1	309	1	0	0	0	0	0	0	1	0	177	666	23	5	1981	5	ACSL1	4	185724474	Splice_Site	SNP	C	TCGA-HT-8564-01A-11D-2395-08	30233547	185724474	5429802	176	29458											
CDH10	1008	broad.mit.edu	37	5	24491704	24491706	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr5:24491704_24491706delGAG	ENST00000264463.4	-	11	2362_2364	c.1855_1857delCTC	c.(1855-1857)ctcdel	p.L619del	CDH10_ENST00000502921.1_5'UTR	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	619					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		TGATGATGCAGAGGAGGATGGCG	0.483										HNSCC(23;0.051)			55	110	---	---	---	---						-	24491706	GAG	-	24491704	7	5	309	1	0	1	0	1	0	0	0	0	3118	929	33	0	517	0	CDH10	5	24491704	In_Frame_Del	DEL	GAG	TCGA-HT-8564-01A-11D-2395-08		24491704	156423556	177	29459											
NPR3	4883	broad.mit.edu	37	5	32739001	32739001	+	Silent	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr5:32739001C>T	ENST00000265074.8	+	3	1267	c.924C>T	c.(922-924)caC>caT	p.H308H	NPR3_ENST00000415685.2_Silent_p.H92H|NPR3_ENST00000434067.2_Silent_p.H92H|NPR3_ENST00000415167.2_Silent_p.H308H	NM_000908.3|NM_001204375.1	NP_000899.1|NP_001191304.1	P17342	ANPRC_HUMAN	natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C)	308					osteoclast proliferation|positive regulation of urine volume|regulation of blood pressure|regulation of osteoblast proliferation|skeletal system development	integral to membrane	hormone binding|natriuretic peptide receptor activity	p.H308H(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24					Nesiritide(DB04899)	GAGACAAACACGACTTTGAAG	0.428													49	90					0	0	1	0	0	T	32739001	C	T	32739001	2	4	309	1	0	0	0	0	0	0	0	1	10644	535	19	1		1	NPR3	5	32739001	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	8247297	32739001	148176259	178	29460											
AGXT2	64902	broad.mit.edu	37	5	34998924	34998924	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr5:34998924C>T	ENST00000231420.6	-	14	1645	c.1445G>A	c.(1444-1446)cGc>cAc	p.R482H		NM_031900.3	NP_114106.1	Q9BYV1	AGT2_HUMAN	alanine--glyoxylate aminotransferase 2	482					glyoxylate metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	mitochondrial matrix	(R)-3-amino-2-methylpropionate-pyruvate transaminase activity|alanine-glyoxylate transaminase activity|pyridoxal phosphate binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(18)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	41	all_lung(31;4.52e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)	GBM - Glioblastoma multiforme(108;0.181)	Glycine(DB00145)|L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)	GGGCGCAATGCGAAATGTCTG	0.368													26	37					0	0	1	0	0	T	34998924	C	T	34998924	3	4	309	1	0	0	0	0	1	0	0	0	402	768	27	1	103	1	AGXT2	5	34998924	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	2259923	34998924	145916336	179	29461											
CARD6	84674	broad.mit.edu	37	5	40854138	40854138	+	Missense_Mutation	SNP	G	G	C			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr5:40854138G>C	ENST00000254691.5	+	3	2903	c.2704G>C	c.(2704-2706)Gca>Cca	p.A902P	CARD6_ENST00000381677.3_Intron	NM_032587.3	NP_115976.2	Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	902					apoptosis|regulation of apoptosis	intracellular				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						CTTTCAACCAGCAGCAGCCAC	0.483													73	119					0	0	1	0	0	C	40854138	G	C	40854138	3	2	309	1	0	0	0	0	1	0	0	0	2668	971	34	4	2714	4	CARD6	5	40854138	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	5855214	40854138	140061122	180	29462											
C6	729	broad.mit.edu	37	5	41159281	41159281	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr5:41159281G>A	ENST00000263413.3	-	12	2023	c.1759C>T	c.(1759-1761)Cga>Tga	p.R587*	C6_ENST00000337836.5_Nonsense_Mutation_p.R587*	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	587	TSP type-1 3.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				TTGCATTCTCGGGTTCTCGAT	0.493													58	80					0	0	1	0	0	A	41159281	G	A	41159281	4	1	309	1	0	0	0	0	0	1	0	0	2329	1124	39	1	1073	1	C6	5	41159281	Nonsense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	305143	41159281	139755979	181	29463											
MIER3	166968	broad.mit.edu	37	5	56231270	56231270	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr5:56231270C>T	ENST00000381226.3	-	7	610	c.595G>A	c.(595-597)Gat>Aat	p.D199N	MIER3_ENST00000409421.1_Missense_Mutation_p.D131N|MIER3_ENST00000381199.3_Missense_Mutation_p.D194N|MIER3_ENST00000381213.3_Missense_Mutation_p.D194N			Q7Z3K6	MIER3_HUMAN	mesoderm induction early response 1, family member 3	194	ELM2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(2)|urinary_tract(1)	19		Lung NSC(810;4.65e-05)|Prostate(74;0.0253)|Breast(144;0.0503)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;1.24e-37)		TCATTACCATCGTACTCTCCA	0.313													26	121					0	0	1	0	0	T	56231270	C	T	56231270	3	4	309	1	0	0	0	0	1	0	0	0	9630	884	31	1	1097	1	MIER3	5	56231270	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	15071989	56231270	124683990	182	29464											
CENPK	64105	broad.mit.edu	37	5	64814369	64814369	+	Missense_Mutation	SNP	C	C	T	rs147863579		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr5:64814369C>T	ENST00000396679.1	-	11	957	c.743G>A	c.(742-744)cGt>cAt	p.R248H	CENPK_ENST00000242872.3_Missense_Mutation_p.R248H|CENPK_ENST00000508421.1_Missense_Mutation_p.R218H|CENPK_ENST00000510693.1_Missense_Mutation_p.R185H|CENPK_ENST00000514814.1_Missense_Mutation_p.R248H	NM_022145.4	NP_071428.2	Q9BS16	CENPK_HUMAN	centromere protein K	248					CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleoplasm				breast(1)|endometrium(1)|large_intestine(3)|lung(5)	10		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)		Lung(70;0.00466)		AATTCCATTACGCAGCAGCAG	0.353													35	77					0	0	1	0	0	T	64814369	C	T	64814369	3	4	309	1	0	0	0	0	1	0	0	0	3257	536	19	1	70	1	CENPK	5	64814369	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	8583099	64814369	116100891	183	29465											
ERBB2IP	55914	broad.mit.edu	37	5	65371013	65371014	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr5:65371013_65371014insC	ENST00000284037.5	+	23	4307_4308	c.3918_3919insC	c.(3919-3921)cccfs	p.P1307fs	ERBB2IP_ENST00000503913.1_Intron|ERBB2IP_ENST00000380938.2_Frame_Shift_Ins_p.P1266fs|ERBB2IP_ENST00000380936.1_Frame_Shift_Ins_p.P1266fs|ERBB2IP_ENST00000511297.1_Frame_Shift_Ins_p.P1262fs|ERBB2IP_ENST00000380939.2_Frame_Shift_Ins_p.P1255fs|ERBB2IP_ENST00000380935.1_Intron|ERBB2IP_ENST00000416865.2_Frame_Shift_Ins_p.P505fs|ERBB2IP_ENST00000380943.2_Frame_Shift_Ins_p.P1266fs|ERBB2IP_ENST00000508515.1_Intron|ERBB2IP_ENST00000506030.1_Frame_Shift_Ins_p.P1314fs	NM_001253697.1	NP_001240626.1	Q96RT1	LAP2_HUMAN	erbb2 interacting protein	1307					basal protein localization|cell adhesion|cell cycle|cell growth|epidermal growth factor receptor signaling pathway|establishment or maintenance of epithelial cell apical/basal polarity|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization	basement membrane|cytoplasm|hemidesmosome|nucleus	ErbB-2 class receptor binding|integrin binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2)	36		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)		CATATACACAGCCCCATTGTTC	0.421													27	230	---	---	---	---						C	65371014	-	C	65371013	7	5	309	1	0	1	1	0	0	0	0	0	5235	962	34	0	3873	0	ERBB2IP	5	65371013	Frame_Shift_Ins	INS	-	TCGA-HT-8564-01A-11D-2395-08	556644	65371013	115544247	184	29466											
SLC30A5	64924	broad.mit.edu	37	5	68413208	68413208	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr5:68413208G>A	ENST00000396591.3	+	11	2034	c.1424G>A	c.(1423-1425)cGg>cAg	p.R475Q	CTC-498J12.3_ENST00000504129.1_RNA	NM_022902.4	NP_075053.2	Q8TAD4	ZNT5_HUMAN	solute carrier family 30 (zinc transporter), member 5	475					cellular zinc ion homeostasis|cobalt ion transport|regulation of proton transport|response to zinc ion	apical plasma membrane|Golgi apparatus|integral to plasma membrane|membrane fraction|secretory granule membrane	zinc ion binding|zinc ion transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Lung NSC(167;0.000986)|Prostate(74;0.00809)|Colorectal(97;0.0508)|Ovarian(174;0.16)		OV - Ovarian serous cystadenocarcinoma(47;1.24e-56)|Epithelial(20;1.12e-52)|all cancers(19;2.63e-48)|Lung(70;0.0177)		AAAGCCACTCGGATTTTCTCC	0.413													65	93					0	0	1	0	0	A	68413208	G	A	68413208	3	1	309	1	0	0	0	0	1	0	0	0	14613	1116	39	1	1554	1	SLC30A5	5	68413208	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	3042195	68413208	112502052	185	29467											
MARVELD2	153562	broad.mit.edu	37	5	68716104	68716104	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr5:68716104G>A	ENST00000325631.5	+	2	966	c.892G>A	c.(892-894)Gtt>Att	p.V298I	MARVELD2_ENST00000413223.2_Intron	NM_001038603.2|NM_001244734.1	NP_001033692.2|NP_001231663.1	Q8N4S9	MALD2_HUMAN	MARVEL domain containing 2	298	MARVEL.				sensory perception of sound	integral to membrane|tight junction				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(4)|skin(1)|urinary_tract(1)	15		Lung NSC(167;0.000937)|Prostate(74;0.0187)|Ovarian(174;0.16)		OV - Ovarian serous cystadenocarcinoma(47;7.31e-57)|Epithelial(20;1.05e-52)|all cancers(19;2.63e-48)|Lung(70;0.0183)		TGGAATTAACGTTGCCTTGTT	0.423													56	112					0	0	1	0	0	A	68716104	G	A	68716104	3	1	309	1	0	0	0	0	1	0	0	0	9368	1145	40	1	894	1	MARVELD2	5	68716104	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	302896	68716104	112199156	186	29468											
PDE8B	8622	broad.mit.edu	37	5	76649192	76649192	+	Silent	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr5:76649192G>A	ENST00000264917.5	+	10	1173	c.1128G>A	c.(1126-1128)tcG>tcA	p.S376S	PDE8B_ENST00000342343.4_Silent_p.S356S|PDE8B_ENST00000340978.3_Silent_p.S329S|PDE8B_ENST00000333194.4_Silent_p.S376S|PDE8B_ENST00000346042.3_Intron	NM_003719.3	NP_003710.1	O95263	PDE8B_HUMAN	phosphodiesterase 8B	376					cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity		GMDS/PDE8B(2)	NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(15)|ovary(1)|prostate(2)|skin(3)	40		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)		ATTTTGTCTCGCTCAAGAAAC	0.368													24	43					0	0	1	0	0	A	76649192	G	A	76649192	2	1	309	1	0	0	0	0	0	0	0	1	11701	1074	38	1		1	PDE8B	5	76649192	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	7933088	76649192	104266068	187	29469											
ZCCHC9	84240	broad.mit.edu	37	5	80604490	80604490	+	Silent	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr5:80604490C>T	ENST00000254037.2	+	2	3650	c.495C>T	c.(493-495)caC>caT	p.H165H	ZCCHC9_ENST00000438268.2_Silent_p.H165H|ZCCHC9_ENST00000407610.3_Silent_p.H165H|ZCCHC9_ENST00000380199.5_Silent_p.H165H|ZCCHC9_ENST00000506458.1_3'UTR			Q8N567	ZCHC9_HUMAN	zinc finger, CCHC domain containing 9	165							nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)	13		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;8.18e-45)|Epithelial(54;2.72e-39)|all cancers(79;7.33e-34)		CCACAGAGCACGAAATAACCA	0.448													38	54					0	0	1	0	0	T	80604490	C	T	80604490	2	4	309	1	0	0	0	0	0	0	0	1	17653	535	19	1		1	ZCCHC9	5	80604490	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	3955298	80604490	100310770	188	29470											
PPIP5K2	23262	broad.mit.edu	37	5	102537324	102537324	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr5:102537324delA	ENST00000321521.9	+	30	4231	c.3658delA	c.(3658-3660)aaafs	p.K1222fs	PPIP5K2_ENST00000414217.1_Frame_Shift_Del_p.K1222fs|PPIP5K2_ENST00000358359.3_Frame_Shift_Del_p.K1243fs			O43314	VIP2_HUMAN	diphosphoinositol pentakisphosphate kinase 2	1243					inositol metabolic process	cytosol	acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						AAACACTGGGAAAAAGAAATG	0.313													13	15	---	---	---	---						-	102537324	A	-	102537324	7	5	309	1	0	1	0	1	0	0	0	0	12382	247	9	0	3772	0	PPIP5K2	5	102537324	Frame_Shift_Del	DEL	A	TCGA-HT-8564-01A-11D-2395-08	21932834	102537324	78377936	189	29471											
MCC	4163	broad.mit.edu	37	5	112363035	112363037	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr5:112363035_112363037delCTC	ENST00000302475.4	-	17	3015_3017	c.2452_2454delGAG	c.(2452-2454)gagdel	p.E818del	MCC_ENST00000514701.3_5'UTR|MCC_ENST00000515367.2_In_Frame_Del_p.E755del|MCC_ENST00000408903.3_In_Frame_Del_p.E1008del	NM_002387.2	NP_002378	P23508	CRCM_HUMAN	mutated in colorectal cancers	818					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane	protein binding|receptor activity			endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		GCCTGGAGTTCTCCTCCTCTAGC	0.507													52	90	---	---	---	---						-	112363037	CTC	-	112363035	7	5	309	1	0	1	0	1	0	0	0	0	9423	912	32	0	39	0	MCC	5	112363035	In_Frame_Del	DEL	CTC	TCGA-HT-8564-01A-11D-2395-08	9825711	112363035	68552225	190	29472											
KIF3A	11127	broad.mit.edu	37	5	132051569	132051569	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr5:132051569G>A	ENST00000378746.4	-	8	1227	c.1009C>T	c.(1009-1011)Cgg>Tgg	p.R337W	KIF3A_ENST00000403231.1_Missense_Mutation_p.R337W|KIF3A_ENST00000378735.1_Missense_Mutation_p.R337W|AC004237.1_ENST00000431165.1_RNA	NM_007054.5	NP_008985.3	Q9Y496	KIF3A_HUMAN	kinesin family member 3A	337	Kinesin-motor.				blood coagulation|organelle organization|plus-end-directed vesicle transport along microtubule	centrosome|cytosol|kinesin II complex|spindle microtubule	ATP binding|plus-end-directed microtubule motor activity|protein binding	p.R337W(2)		endometrium(1)|kidney(4)|large_intestine(8)|lung(3)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	25		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TTGGCATACCGTAATGTACTG	0.328													7	22					0	0	1	0	0	A	132051569	G	A	132051569	3	1	309	1	0	0	0	0	1	0	0	0	8342	1144	40	1	1130	1	KIF3A	5	132051569	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	19688534	132051569	48863691	191	29473											
KDM3B	51780	broad.mit.edu	37	5	137721747	137721749	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr5:137721747_137721749delAAG	ENST00000314358.5	+	7	1017_1019	c.817_819delAAG	c.(817-819)aagdel	p.K275del		NM_016604.3	NP_057688	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	275					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						TTCCAAAGGAAAGAAGAAGAGAG	0.419													65	142	---	---	---	---						-	137721749	AAG	-	137721747	7	5	309	1	0	1	0	1	0	0	0	0	8171	15	1	0	843	0	KDM3B	5	137721747	In_Frame_Del	DEL	AAG	TCGA-HT-8564-01A-11D-2395-08	5670178	137721747	43193513	192	29474											
PSD2	84249	broad.mit.edu	37	5	139189297	139189298	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr5:139189297_139189298delAA	ENST00000274710.3	+	2	477_478	c.272_273delAA	c.(271-273)gaafs	p.E91fs		NM_032289.2	NP_115665.1	Q9BQI7	PSD2_HUMAN	pleckstrin and Sec7 domain containing 2	91					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2)	38			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AACATTCTGGAAGATTCAGCGG	0.619													77	150	---	---	---	---						-	139189298	AA	-	139189297	7	5	309	1	0	1	0	1	0	0	0	0	12696	246	9	0	274	0	PSD2	5	139189297	Frame_Shift_Del	DEL	AA	TCGA-HT-8564-01A-11D-2395-08	1467550	139189297	41725963	193	29475											
TMCO6	55374	broad.mit.edu	37	5	140021557	140021557	+	Silent	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr5:140021557G>A	ENST00000394671.3	+	4	518	c.417G>A	c.(415-417)gaG>gaA	p.E139E	TMCO6_ENST00000252100.6_Silent_p.E139E|TMCO6_ENST00000537378.1_Intron|TMCO6_ENST00000511410.1_3'UTR|NDUFA2_ENST00000510680.1_Intron	NM_018502.3	NP_060972.3	Q96DC7	TMCO6_HUMAN	transmembrane and coiled-coil domains 6	139					protein import into nucleus	cytoplasm|nuclear pore	binding|protein transporter activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|urinary_tract(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCACTCCGAGCAGTCCACTG	0.617													36	167					0	0	1	0	0	A	140021557	G	A	140021557	2	1	309	1	0	0	0	0	0	0	0	1	16060	962	34	2		2	TMCO6	5	140021557	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	832260	140021557	40893703	194	29476											
PCDHA6	56142	broad.mit.edu	37	5	140209817	140209817	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr5:140209817C>T	ENST00000529310.1	+	1	2255	c.2141C>T	c.(2140-2142)aCg>aTg	p.T714M	PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018909.2|NM_031848.2|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1												p.T714M(2)		NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGGTCCTCACGCTACTGCTG	0.706													81	128					0	0	1	0	0	T	140209817	C	T	140209817	3	4	309	1	0	0	0	0	1	0	0	0	11575	536	19	1	2143	1	PCDHA6	5	140209817	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	188260	140209817	40705443	195	29477											
PCDHA12	56137	broad.mit.edu	37	5	140255597	140255601	+	Frame_Shift_Del	DEL	TAAAA	TAAAA	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr5:140255597_140255601delTAAAA	ENST00000398631.2	+	1	540_544	c.540_544delTAAAA	c.(538-546)cttaaaatafs	p.KI181fs	PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018903.2|NM_031864.2	NP_061726.1|NP_114070.1												p.L180L(1)		NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATTTTGAGCTTAAAATAAAAACAAA	0.366													20	82	---	---	---	---						-	140255601	TAAAA	-	140255597	7	5	309	1	0	1	0	1	0	0	0	0	11569	1741	61	0	542	0	PCDHA12	5	140255597	Frame_Shift_Del	DEL	TAAAA	TCGA-HT-8564-01A-11D-2395-08	45780	140255597	40659663	196	29478											
PCDHGB4	8641	broad.mit.edu	37	5	140769478	140769478	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr5:140769478G>A	ENST00000519479.1	+	1	2027	c.2027G>A	c.(2026-2028)cGc>cAc	p.R676H	PCDHGA4_ENST00000571252.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA7_ENST00000518325.1_Intron	NM_003736.2|NM_018925.2|NM_032098.1	NP_003727.1|NP_061748.1|NP_115269.1														endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2)	37			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATCACTGACCGCCCCGACCCC	0.617													15	279					0	0	1	0	0	A	140769478	G	A	140769478	3	1	309	1	0	0	0	0	1	0	0	0	11612	1087	38	1	2029	1	PCDHGB4	5	140769478	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	513881	140769478	40145782	197	29479											
ARAP3	64411	broad.mit.edu	37	5	141035270	141035270	+	Missense_Mutation	SNP	C	C	T	rs138515824	byFrequency	TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr5:141035270C>T	ENST00000239440.4	-	31	4093	c.4028G>A	c.(4027-4029)cGt>cAt	p.R1343H	ARAP3_ENST00000513878.1_Missense_Mutation_p.R1005H|ARAP3_ENST00000512390.1_5'UTR|ARAP3_ENST00000508305.1_Missense_Mutation_p.R1174H	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	1343					cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						AAACTTCTGACGGGCAAGGTC	0.597													41	70					0	0	1	0	0	T	141035270	C	T	141035270	3	4	309	1	0	0	0	0	1	0	0	0	837	536	19	1	618	1	ARAP3	5	141035270	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	265792	141035270	39879990	198	29480											
SYNPO	11346	broad.mit.edu	37	5	150029450	150029450	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr5:150029450G>A	ENST00000394243.1	+	3	2719	c.2345G>A	c.(2344-2346)cGg>cAg	p.R782Q	SYNPO_ENST00000307662.4_Missense_Mutation_p.R538Q|SYNPO_ENST00000522122.1_Missense_Mutation_p.R782Q|SYNPO_ENST00000519664.1_Missense_Mutation_p.R538Q	NM_001166208.1	NP_001159680.1	Q8N3V7	SYNPO_HUMAN	synaptopodin	782	Pro-rich.				positive regulation of actin filament bundle assembly|regulation of stress fiber assembly	actin cytoskeleton|cytoplasm|dendritic spine|perikaryon|postsynaptic density|postsynaptic membrane|tight junction	actin binding|protein binding			NS(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(4)|prostate(1)|urinary_tract(2)	18		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGCCCAGCCCGGACCCCGCCT	0.687													55	211					0	0	1	0	0	A	150029450	G	A	150029450	3	1	309	1	0	0	0	0	1	0	0	0	15513	1116	39	1	2351	1	SYNPO	5	150029450	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	8994180	150029450	30885810	199	29481											
SLC36A1	206358	broad.mit.edu	37	5	150856223	150856223	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr5:150856223G>A	ENST00000243389.3	+	9	1118	c.895G>A	c.(895-897)Gtc>Atc	p.V299I	SLC36A1_ENST00000520701.1_Missense_Mutation_p.V299I|SLC36A1_ENST00000521925.1_Missense_Mutation_p.V299I	NM_078483.2	NP_510968.2	Q7Z2H8	S36A1_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 1	299					cellular nitrogen compound metabolic process|ion transport	endoplasmic reticulum|integral to membrane|lysosomal membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity			endometrium(5)|kidney(9)|lung(8)|skin(2)|urinary_tract(1)	25		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)|all_neural(839;0.138)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Glycine(DB00145)|L-Alanine(DB00160)	CATGGTCATCGTCACCATCCT	0.517													54	82					0	0	1	0	0	A	150856223	G	A	150856223	3	1	309	1	0	0	0	0	1	0	0	0	14648	1145	40	1	925	1	SLC36A1	5	150856223	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	826773	150856223	30059037	200	29482											
HIGD2A	192286	broad.mit.edu	37	5	175815916	175815917	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr5:175815916_175815917delAG	ENST00000274787.2	+	1	169_170	c.96_97delAG	c.(94-99)ccagagfs	p.E33fs	NOP16_ENST00000389158.5_5'UTR	NM_138820.2	NP_620175.1	Q9BW72	HIG2A_HUMAN	HIG1 hypoxia inducible domain family, member 2A	33	HIG1.					integral to membrane				large_intestine(1)	1	all_cancers(89;0.00522)|Renal(175;0.000269)|Lung NSC(126;0.0105)|all_lung(126;0.0168)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Kidney(146;0.0965)		ACAGGAATCCAGAGAGTTTCAA	0.564													94	154	---	---	---	---						-	175815917	AG	-	175815916	7	5	309	1	0	1	0	1	0	0	0	0	7150	175	7	0	98	0	HIGD2A	5	175815916	Frame_Shift_Del	DEL	AG	TCGA-HT-8564-01A-11D-2395-08	24959693	175815916	5099344	201	29483											
GPRIN1	114787	broad.mit.edu	37	5	176025905	176025905	+	Nonsense_Mutation	SNP	C	C	A	rs147380779	byFrequency	TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr5:176025905C>A	ENST00000303991.4	-	2	1108	c.931G>T	c.(931-933)Gga>Tga	p.G311*		NM_052899.2	NP_443131.2	Q7Z2K8	GRIN1_HUMAN	G protein regulated inducer of neurite outgrowth 1	311						growth cone|plasma membrane				NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(89;0.00263)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TCTGTCTTTCCTGTGGACGCA	0.572													64	115					6.75472e-32	6.96097e-32	1	1	0	A	176025905	C	A	176025905	4	1	309	1	0	0	0	0	0	1	0	0	6770	690	24	4	2099	4	GPRIN1	5	176025905	Nonsense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	209989	176025905	4889355	202	29484											
SNCB	6620	broad.mit.edu	37	5	176056600	176056600	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr5:176056600G>A	ENST00000310112.3	-	3	306	c.56C>T	c.(55-57)gCg>gTg	p.A19V	SNCB_ENST00000510387.1_Missense_Mutation_p.A19V|SNCB_ENST00000393693.2_Missense_Mutation_p.A19V|SNCB_ENST00000506696.1_Missense_Mutation_p.A19V	NM_001001502.1	NP_001001502.1	Q16143	SYUB_HUMAN	synuclein, beta	19							calcium ion binding|phospholipase inhibitor activity			breast(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	10	all_cancers(89;0.00222)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.00498)|all_neural(177;0.0212)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGTTTTCTCCGCGGCTGCCAC	0.677													11	52					0	0	1	0	0	A	176056600	G	A	176056600	3	1	309	1	0	0	0	0	1	0	0	0	14896	1087	38	1	368	1	SNCB	5	176056600	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	30695	176056600	4858660	203	29485											
ADAMTS2	9509	broad.mit.edu	37	5	178566910	178566910	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr5:178566910G>A	ENST00000251582.7	-	11	1857	c.1756C>T	c.(1756-1758)Cgc>Tgc	p.R586C		NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	586	TSP type-1 1.				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		TCACACTGGCGGGTCCTGAAC	0.642													107	116					0	0	1	0	0	A	178566910	G	A	178566910	3	1	309	1	0	0	0	0	1	0	0	0	264	1116	39	1	1927	1	ADAMTS2	5	178566910	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	2510310	178566910	2348350	204	29486											
HNRNPH1	3187	broad.mit.edu	37	5	179043155	179043155	+	Silent	SNP	G	G	A	rs115293737	by1000genomes	TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr5:179043155G>A	ENST00000356731.5	-	11	2807	c.1272C>T	c.(1270-1272)taC>taT	p.Y424Y	HNRNPH1_ENST00000393432.4_Silent_p.Y424Y|HNRNPH1_ENST00000511300.2_Silent_p.Y134Y|HNRNPH1_ENST00000510411.1_Silent_p.Y404Y|HNRNPH1_ENST00000329433.6_Silent_p.Y424Y|HNRNPH1_ENST00000442819.2_Silent_p.Y424Y			P31943	HNRH1_HUMAN	heterogeneous nuclear ribonucleoprotein H1 (H)	424	2 X 16 AA Gly-rich approximate repeats.				regulation of RNA splicing	actin cytoskeleton|catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|poly(U) RNA binding|protein binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|skin(1)	14						TCTGGCCACCGTAGCCGCCTC	0.473													38	229					0	0	1	0	0	A	179043155	G	A	179043155	2	1	309	1	0	0	0	0	0	0	0	1	7307	1140	40	1		1	HNRNPH1	5	179043155	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	476245	179043155	1872105	205	29487											
MAPK9	5601	broad.mit.edu	37	5	179676062	179676062	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr5:179676062G>A	ENST00000452135.2	-	6	825	c.527C>T	c.(526-528)gCg>gTg	p.A176V	MAPK9_ENST00000397072.3_3'UTR|MAPK9_ENST00000425491.2_Missense_Mutation_p.A176V|MAPK9_ENST00000343111.6_Missense_Mutation_p.A176V|MAPK9_ENST00000347470.4_Missense_Mutation_p.A176V|MAPK9_ENST00000524170.1_5'UTR|MAPK9_ENST00000455781.1_Missense_Mutation_p.A176V|MAPK9_ENST00000393360.3_Missense_Mutation_p.A176V|MAPK9_ENST00000539014.1_Missense_Mutation_p.A176V			P45984	MK09_HUMAN	mitogen-activated protein kinase 9	176	Protein kinase.				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|JUN kinase activity|protein binding			central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(89;6.54e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0236)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GTTAGTGCACGCTGTCCGGGC	0.498													128	161					0	0	1	0	0	A	179676062	G	A	179676062	3	1	309	1	0	0	0	0	1	0	0	0	9337	1087	38	1	897	1	MAPK9	5	179676062	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	632907	179676062	1239198	206	29488											
FLT4	2324	broad.mit.edu	37	5	180046723	180046723	+	Silent	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr5:180046723G>A	ENST00000261937.6	-	18	2667	c.2589C>T	c.(2587-2589)tcC>tcT	p.S863S	FLT4_ENST00000393347.3_Silent_p.S863S|FLT4_ENST00000502649.1_Silent_p.S863S	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	863	Protein kinase.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	TGCCGAAAGCGGAGGCTTCCA	0.657													84	160					0	0	1	0	0	A	180046723	G	A	180046723	2	1	309	1	0	0	0	0	0	0	0	1	5977	1103	39	1		1	FLT4	5	180046723	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	370661	180046723	868537	207	29489											
DUSP22	56940	broad.mit.edu	37	6	348938	348938	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr6:348938C>T	ENST00000604971.1	+	4	1409	c.296C>T	c.(295-297)aCg>aTg	p.T99M	DUSP22_ENST00000419235.2_Missense_Mutation_p.T202M|DUSP22_ENST00000603453.1_Missense_Mutation_p.T99M|DUSP22_ENST00000344450.5_Intron|DUSP22_ENST00000605035.1_3'UTR|DUSP22_ENST00000605315.1_Missense_Mutation_p.T99M			Q9NRW4	DUS22_HUMAN	dual specificity phosphatase 22	0	Tyrosine-protein phosphatase.				apoptosis|cell proliferation|inactivation of MAPK activity|multicellular organismal development|positive regulation of JNK cascade|regulation of cell proliferation|transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(2)	26	all_hematologic(77;0.228)	Breast(5;0.0249)|all_hematologic(90;0.0489)		OV - Ovarian serous cystadenocarcinoma(45;0.0277)|BRCA - Breast invasive adenocarcinoma(62;0.0669)		GATAATTATACGACGGAGACC	0.622													12	13					0	0	1	0	0	T	348938	C	T	348938	3	4	309	1	0	0	0	0	1	0	0	0	4847	551	19	1		1	DUSP22	6	348938	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08		348938	170766129	208	29490											
TMEM14C	51522	broad.mit.edu	37	6	10725225	10725225	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr6:10725225G>A	ENST00000541412.1	+	3	437	c.52G>A	c.(52-54)Gca>Aca	p.A18T	TMEM14C_ENST00000229563.5_Missense_Mutation_p.A18T|TMEM14C_ENST00000467415.1_3'UTR	NM_001165258.1	NP_001158730.1	Q9P0S9	TM14C_HUMAN	transmembrane protein 14C	18					heme biosynthetic process	integral to membrane|mitochondrial membrane				large_intestine(2)|lung(3)	5	Ovarian(93;0.107)|Breast(50;0.137)	all_hematologic(90;0.135)	Epithelial(50;0.246)			CTTTGGCTACGCAGCACTGGT	0.448													87	278					0	0	1	0	0	A	10725225	G	A	10725225	3	1	309	1	0	0	0	0	1	0	0	0	16125	1087	38	1	58	1	TMEM14C	6	10725225	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	10376287	10725225	160389842	209	29491											
ABCF1	23	broad.mit.edu	37	6	30552327	30552327	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr6:30552327C>T	ENST00000326195.8	+	14	1487	c.1375C>T	c.(1375-1377)Cgt>Tgt	p.R459C	ABCF1_ENST00000376545.3_Missense_Mutation_p.R421C|ABCF1_ENST00000396515.4_Intron	NM_001025091.1	NP_001020262.1	Q8NE71	ABCF1_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 1	459	ABC transporter 1.				inflammatory response|translational initiation	nuclear envelope|nucleoplasm|polysomal ribosome	ATP binding|ATPase activity|protein binding|ribosome binding|translation activator activity|translation factor activity, nucleic acid binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|skin(2)	21						CTGGCGCATGCGTGTCTCCCT	0.612													38	34					0	0	1	0	0	T	30552327	C	T	30552327	3	4	309	1	0	0	0	0	1	0	0	0	65	768	27	1	1429	1	ABCF1	6	30552327	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	19827102	30552327	140562740	210	29492											
FGD2	221472	broad.mit.edu	37	6	36978766	36978766	+	Silent	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr6:36978766C>T	ENST00000274963.8	+	3	489	c.318C>T	c.(316-318)atC>atT	p.I106I		NM_173558.3	NP_775829.2	Q7Z6J4	FGD2_HUMAN	FYVE, RhoGEF and PH domain containing 2	106	DH.				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|early endosome membrane|Golgi apparatus|lamellipodium|nucleus|ruffle membrane	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	25						AGAAGAAGATCGTCCAGGAGC	0.612													12	72					0	0	1	0	0	T	36978766	C	T	36978766	2	4	309	1	0	0	0	0	0	0	0	1	5866	874	31	1		1	FGD2	6	36978766	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	6426439	36978766	134136301	211	29493											
PTK7	5754	broad.mit.edu	37	6	43044258	43044258	+	Missense_Mutation	SNP	C	C	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr6:43044258C>A	ENST00000230419.4	+	1	253	c.32C>A	c.(31-33)cCc>cAc	p.P11H	PTK7_ENST00000471863.1_Missense_Mutation_p.P11H|PTK7_ENST00000476760.1_Missense_Mutation_p.P11H|PTK7_ENST00000349241.2_Missense_Mutation_p.P11H|PTK7_ENST00000352931.2_Missense_Mutation_p.P11H|PTK7_ENST00000345201.2_Missense_Mutation_p.P11H	NM_002821.4	NP_002812.2	Q13308	PTK7_HUMAN	protein tyrosine kinase 7	11					actin cytoskeleton reorganization|canonical Wnt receptor signaling pathway|cell adhesion|cell migration	cell-cell junction|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			CCGGCCAGACCCCGCCGGTTG	0.736													19	9					1.15919e-05	1.17133e-05	1	1	0	A	43044258	C	A	43044258	3	1	309	1	0	0	0	0	1	0	0	0	12815	623	22	5	34	5	PTK7	6	43044258	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	6065492	43044258	128070809	212	29494											
TDRD6	221400	broad.mit.edu	37	6	46656282	46656282	+	Silent	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr6:46656282C>T	ENST00000544460.1	+	1	671	c.417C>T	c.(415-417)tgC>tgT	p.C139C	TDRD6_ENST00000316081.6_Silent_p.C139C	NM_001168359.1	NP_001161831.1	O60522	TDRD6_HUMAN	tudor domain containing 6	139					cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			CGGCAGGCTGCGGCGCGGGCT	0.711													4	19					0	0	1	0	0	T	46656282	C	T	46656282	2	4	309	1	0	0	0	0	0	0	0	1	15793	776	27	1		1	TDRD6	6	46656282	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	3612024	46656282	124458785	213	29495											
SNAP91	9892	broad.mit.edu	37	6	84417562	84417563	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr6:84417562_84417563insT	ENST00000428679.2	-	2	677_678	c.84_85insA	c.(82-87)aaagccfs	p.A29fs	SNAP91_ENST00000521485.1_Frame_Shift_Ins_p.A29fs|SNAP91_ENST00000369694.2_Frame_Shift_Ins_p.A29fs|SNAP91_ENST00000439399.2_Frame_Shift_Ins_p.A29fs|SNAP91_ENST00000520213.1_Frame_Shift_Ins_p.A29fs|SNAP91_ENST00000521743.1_Frame_Shift_Ins_p.A29fs|SNAP91_ENST00000195649.6_Frame_Shift_Ins_p.A29fs|SNAP91_ENST00000520302.1_Frame_Shift_Ins_p.A29fs|SNAP91_ENST00000437520.1_Frame_Shift_Ins_p.A29fs			O60641	AP180_HUMAN	synaptosomal-associated protein, 91kDa	29	ENTH.				clathrin coat assembly	clathrin coat|coated pit|plasma membrane	1-phosphatidylinositol binding|clathrin binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		TGAGTAGTGGCTTTGCAGACCG	0.559													98	57	---	---	---	---						T	84417563	-	T	84417562	7	5	309	1	0	1	1	0	0	0	0	0	14887	797	28	0	2746	0	SNAP91	6	84417562	Frame_Shift_Ins	INS	-	TCGA-HT-8564-01A-11D-2395-08	37761280	84417562	86697505	214	29496											
PEX3	8504	broad.mit.edu	37	6	143793364	143793364	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr6:143793364G>A	ENST00000367591.4	+	8	709	c.646G>A	c.(646-648)Gtt>Att	p.V216I		NM_003630.2	NP_003621.1	P56589	PEX3_HUMAN	peroxisomal biogenesis factor 3	216					protein import into peroxisome membrane|transmembrane transport	integral to peroxisomal membrane	protein binding			endometrium(1)|large_intestine(9)|lung(4)|ovary(2)|skin(2)	18				OV - Ovarian serous cystadenocarcinoma(155;5.73e-06)|GBM - Glioblastoma multiforme(68;0.0117)		CAGAAATCTCGTTGAGCAGCA	0.348													38	18					0	0	1	0	0	A	143793364	G	A	143793364	3	1	309	1	0	0	0	0	1	0	0	0	11795	1145	40	1	676	1	PEX3	6	143793364	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	59375802	143793364	27321703	215	29497											
LATS1	9113	broad.mit.edu	37	6	150005515	150005515	+	Frame_Shift_Del	DEL	G	G	-	rs56149740		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr6:150005515delG	ENST00000543571.1	-	4	1257	c.710delC	c.(709-711)ccafs	p.P240fs	LATS1_ENST00000392273.3_Frame_Shift_Del_p.P240fs|LATS1_ENST00000253339.5_Frame_Shift_Del_p.P240fs|LATS1_ENST00000542747.1_5'UTR	NM_004690.3	NP_004681.1	O95835	LATS1_HUMAN	large tumor suppressor kinase 1	240					cell division|cytoplasmic sequestering of protein|G2/M transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|positive regulation of peptidyl-serine phosphorylation|regulation of actin filament polymerization|sister chromatid segregation	microtubule organizing center|spindle pole	ATP binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity			central_nervous_system(1)|lung(5)	6		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)		AGGTGGTGGTGGGGGGTTCAC	0.532													18	149	---	---	---	---						-	150005515	G	-	150005515	7	5	309	1	0	1	0	1	0	0	0	0	8685	1348	47	0	2702	0	LATS1	6	150005515	Frame_Shift_Del	DEL	G	TCGA-HT-8564-01A-11D-2395-08	6212151	150005515	21109552	216	29498											
WTAP	9589	broad.mit.edu	37	6	160176453	160176453	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr6:160176453C>T	ENST00000358372.4	+	8	2758	c.1001C>T	c.(1000-1002)gCg>gTg	p.A334V	SOD2_ENST00000546087.1_Intron	NM_001270531.1|NM_004906.4	NP_001257460.1|NP_004897.2	Q15007	FL2D_HUMAN	Wilms tumor 1 associated protein	334					cell cycle|mRNA processing|RNA splicing	nuclear membrane|nucleolus				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	18		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.75e-18)|BRCA - Breast invasive adenocarcinoma(81;5.93e-06)		CAACTCAGTGCGGGGTATGAA	0.483													33	64					0	0	1	0	0	T	160176453	C	T	160176453	3	4	309	1	0	0	0	0	1	0	0	0	17469	768	27	1	1031	1	WTAP	6	160176453	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	10170938	160176453	10938614	217	29499											
FRMD1	79981	broad.mit.edu	37	6	168463623	168463623	+	Missense_Mutation	SNP	C	C	T	rs115999698	byFrequency	TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr6:168463623C>T	ENST00000283309.6	-	7	885	c.821G>A	c.(820-822)cGt>cAt	p.R274H	FRMD1_ENST00000432403.1_5'UTR|FRMD1_ENST00000440994.2_Missense_Mutation_p.R206H|FRMD1_ENST00000537786.1_Missense_Mutation_p.R45H	NM_024919.3	NP_079195.3	Q8N878	FRMD1_HUMAN	FERM domain containing 1	274	FERM.		R -> C (in dbSNP:rs902393).			cytoskeleton	binding			endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	19		Breast(66;1.07e-05)|Ovarian(120;0.0728)		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)		CACGGTGGGACGACCTTCCTT	0.622													29	58					0	0	1	0	0	T	168463623	C	T	168463623	3	4	309	1	0	0	0	0	1	0	0	0	6084	536	19	1	848	1	FRMD1	6	168463623	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	8287170	168463623	2651444	218	29500											
FAM120B	84498	broad.mit.edu	37	6	170626760	170626760	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr6:170626760G>T	ENST00000476287.1	+	2	390	c.282G>T	c.(280-282)gaG>gaT	p.E94D	FAM120B_ENST00000252510.9_Intron|FAM120B_ENST00000540480.1_Missense_Mutation_p.E106D|FAM120B_ENST00000537664.1_Missense_Mutation_p.E117D	NM_032448.1	NP_115824.1	Q96EK7	F120B_HUMAN	family with sequence similarity 120B	94					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(2)	44		Breast(66;0.000338)|Esophageal squamous(34;0.241)		OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899)		GCATGGTGGAGCAGGATAAGA	0.443													7	93					0.0293803	0.0294677	1	1	0	T	170626760	G	T	170626760	3	4	309	1	0	0	0	0	1	0	0	0	5448	962	34	4	284	4	FAM120B	6	170626760	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	2163137	170626760	488307	219	29501											
FBXL18	80028	broad.mit.edu	37	7	5540761	5540761	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr7:5540761G>A	ENST00000382368.3	-	3	1262	c.1139C>T	c.(1138-1140)gCg>gTg	p.A380V	FBXL18_ENST00000453700.3_Missense_Mutation_p.A380V	NM_024963.4	NP_079239.3	Q96ME1	FXL18_HUMAN	F-box and leucine-rich repeat protein 18	380									FBXL18/RNF216(2)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)	21		Ovarian(82;0.0607)		UCEC - Uterine corpus endometrioid carcinoma (126;0.181)|OV - Ovarian serous cystadenocarcinoma(56;3.64e-13)		GCAGCAGGACGCCACCAGAGT	0.687													20	105					0	0	1	0	0	A	5540761	G	A	5540761	3	1	309	1	0	0	0	0	1	0	0	0	5747	1087	38	1	1029	1	FBXL18	7	5540761	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08		5540761	153597902	220	29502											
HOXA1	3198	broad.mit.edu	37	7	27135248	27135248	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr7:27135248C>T	ENST00000343060.4	-	1	345	c.284G>A	c.(283-285)tGt>tAt	p.C95Y	HOXA1_ENST00000355633.5_Missense_Mutation_p.C95Y	NM_005522.4	NP_005513	P49639	HXA1_HUMAN	homeobox A1	95						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						GCTTGGACCACAACTTGAGTG	0.612											OREG0003750	type=REGULATORY REGION|Gene=BC031342|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	29	149					0	0	1	0	0	T	27135248	C	T	27135248	3	4	309	1	0	0	0	0	1	0	0	0	7329	478	17	2	731	2	HOXA1	7	27135248	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	21594487	27135248	132003415	221	29503											
GGCT	79017	broad.mit.edu	37	7	30538452	30538452	+	Silent	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr7:30538452G>A	ENST00000275428.4	-	3	524	c.390C>T	c.(388-390)taC>taT	p.Y130Y	GGCT_ENST00000598361.1_Silent_p.Y45Y|GGCT_ENST00000409390.1_Intron|GGCT_ENST00000409144.1_Intron|GGCT_ENST00000409436.1_Silent_p.Y130Y|GGCT_ENST00000005374.6_Intron	NM_024051.3	NP_076956.1	O75223	GGCT_HUMAN	gamma-glutamylcyclotransferase	130					release of cytochrome c from mitochondria	cytosol	acyltransferase activity|gamma-glutamylcyclotransferase activity|protein homodimerization activity	p.Y130*(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	8						GAGCACTTTCGTAATTTGTCA	0.338													63	94					0	0	1	0	0	A	30538452	G	A	30538452	2	1	309	1	0	0	0	0	0	0	0	1	6397	1140	40	1		1	GGCT	7	30538452	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	3403204	30538452	128600211	222	29504											
FKBP9	11328	broad.mit.edu	37	7	33014804	33014804	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr7:33014804delC	ENST00000242209.4	+	3	547	c.378delC	c.(376-378)atcfs	p.I126fs	FKBP9_ENST00000538336.1_Frame_Shift_Del_p.I179fs|AVL9_ENST00000404479.1_Intron|FKBP9_ENST00000538443.1_5'UTR	NM_001284343.1|NM_007270.3	NP_001271272.1|NP_009201.2	O95302	FKBP9_HUMAN	FK506 binding protein 9, 63 kDa	126	PPIase FKBP-type 1.				protein folding	endoplasmic reticulum|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity			central_nervous_system(13)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	39			GBM - Glioblastoma multiforme(11;0.0156)			CTGGTGTGATCCCCCCCAATT	0.443													33	71	---	---	---	---						-	33014804	C	-	33014804	7	5	309	1	0	1	0	1	0	0	0	0	5948	845	30	0	388	0	FKBP9	7	33014804	Frame_Shift_Del	DEL	C	TCGA-HT-8564-01A-11D-2395-08	2476352	33014804	126123859	223	29505											
HECW1	23072	broad.mit.edu	37	7	43484733	43484733	+	Silent	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr7:43484733C>T	ENST00000395891.2	+	11	2567	c.1962C>T	c.(1960-1962)acC>acT	p.T654T	HECW1_ENST00000453890.1_Silent_p.T654T	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1						protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						ACCCCAGCACCGGGAGCGAGA	0.716													33	47					0	0	1	0	0	T	43484733	C	T	43484733	2	4	309	1	0	0	0	0	0	0	0	1	7083	639	23	1		1	HECW1	7	43484733	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	10469929	43484733	115653930	224	29506											
FKBP6	8468	broad.mit.edu	37	7	72754699	72754699	+	Silent	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr7:72754699C>T	ENST00000252037.4	+	6	717	c.648C>T	c.(646-648)gcC>gcT	p.A216A	FKBP6_ENST00000413573.2_Silent_p.A186A|FKBP6_ENST00000431982.2_Silent_p.A211A	NM_003602.3	NP_003593.3	O75344	FKBP6_HUMAN	FK506 binding protein 6, 36kDa	216					protein folding	membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)	16		Lung NSC(55;0.0908)|all_lung(88;0.198)				TGGTGGAGGCCGCCAAGCTTC	0.572													24	112					0	0	1	0	0	T	72754699	C	T	72754699	2	4	309	1	0	0	0	0	0	0	0	1	5945	639	23	1		1	FKBP6	7	72754699	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	29269966	72754699	86383964	225	29507											
MLXIPL	51085	broad.mit.edu	37	7	73013863	73013863	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr7:73013863C>T	ENST00000313375.3	-	8	1111	c.1064G>A	c.(1063-1065)cGt>cAt	p.R355H	MLXIPL_ENST00000414749.2_Missense_Mutation_p.R355H|MLXIPL_ENST00000434326.1_Missense_Mutation_p.R262H|MLXIPL_ENST00000429400.2_Missense_Mutation_p.R355H|MLXIPL_ENST00000354613.1_Missense_Mutation_p.R355H|MLXIPL_ENST00000395189.1_Missense_Mutation_p.R262H	NM_032951.2|NM_032953.2	NP_116569.1|NP_116571.1	Q9NP71	WBS14_HUMAN	MLX interacting protein-like	355					anatomical structure morphogenesis|energy reserve metabolic process|glucose mediated signaling pathway|intracellular protein kinase cascade|negative regulation of cell cycle arrest|negative regulation of oxidative phosphorylation|negative regulation of peptidyl-serine phosphorylation|positive regulation of cell proliferation|positive regulation of fatty acid biosynthetic process|positive regulation of glycolysis|positive regulation of transcription from RNA polymerase II promoter|triglyceride homeostasis	cytosol|transcription factor complex	carbohydrate response element binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding			cervix(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	13		Lung NSC(55;0.0659)|all_lung(88;0.152)				CACCTGCAGACGGCTGTGTCC	0.632													47	90					0	0	1	0	0	T	73013863	C	T	73013863	3	4	309	1	0	0	0	0	1	0	0	0	9685	536	19	1	1534	1	MLXIPL	7	73013863	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	259164	73013863	86124800	226	29508											
ELN	2006	broad.mit.edu	37	7	73471784	73471784	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr7:73471784C>T	ENST00000358929.4	+	22	1521	c.1430C>T	c.(1429-1431)aCg>aTg	p.T477M	ELN_ENST00000320399.6_Intron|ELN_ENST00000380553.4_Intron|ELN_ENST00000380575.4_Intron|ELN_ENST00000380584.4_Intron|ELN_ENST00000380562.4_Intron|ELN_ENST00000380576.5_Intron|ELN_ENST00000429192.1_Intron|ELN_ENST00000414324.1_Intron|ELN_ENST00000445912.1_Intron|ELN_ENST00000458204.1_Intron|ELN_ENST00000357036.5_Intron|ELN_ENST00000252034.7_Intron|ELN_ENST00000320492.7_Intron	NM_001278939.1	NP_001265868.1	P15502	ELN_HUMAN	elastin	477	Ala-rich.				blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange	proteinaceous extracellular matrix	extracellular matrix constituent conferring elasticity|protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)			Rofecoxib(DB00533)	GTGCCGGGCACGGGAGGAGTG	0.617			T	PAX5	B-ALL		"Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"						10	31					0	0	1	0	0	T	73471784	C	T	73471784	3	4	309	1	0	0	0	0	1	0	0	0	5099	551	19	1		1	ELN	7	73471784	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	457921	73471784	85666879	227	29509											
PCLO	27445	broad.mit.edu	37	7	82584436	82584436	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr7:82584436G>A	ENST00000333891.9	-	5	6170	c.5833C>T	c.(5833-5835)Cct>Tct	p.P1945S	PCLO_ENST00000423517.2_Missense_Mutation_p.P1945S	NM_033026.5	NP_149015.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein						cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CCATACAAAGGCTCTTTTTCA	0.373													13	67					0	0	1	0	0	A	82584436	G	A	82584436	3	1	309	1	0	0	0	0	1	0	0	0	11630	1203	42	2	9696	2	PCLO	7	82584436	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	9112652	82584436	76554227	228	29510											
SEMA3A	10371	broad.mit.edu	37	7	83823817	83823817	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr7:83823817A>G	ENST00000265362.4	-	1	400	c.86T>C	c.(85-87)gTg>gCg	p.V29A	SEMA3A_ENST00000436949.1_Missense_Mutation_p.V29A	NM_006080.2	NP_006071.1	Q14563	SEM3A_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A						axon guidance	extracellular region|membrane	receptor activity			breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						CAGCCTTGGCACATTGTTCTT	0.418													29	210					0	0	1	0	0	G	83823817	A	G	83823817	3	3	309	1	0	0	0	0	1	0	0	0	14078	159	6	3	2297	3	SEMA3A	7	83823817	Missense_Mutation	SNP	A	TCGA-HT-8564-01A-11D-2395-08	1239381	83823817	75314846	229	29511											
AKAP9	10142	broad.mit.edu	37	7	91737807	91737807	+	Splice_Site	SNP	G	G	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr7:91737807G>T	ENST00000359028.2	+	49	11783		c.e49-1		AKAP9_ENST00000356239.3_Splice_Site|AKAP9_ENST00000358100.2_Splice_Site			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9						G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TAATCCTTTAGGTACCCAGGC	0.423			T	BRAF	papillary thyroid								15	98					1.67942e-08	1.70724e-08	1	1	0	T	91737807	G	T	91737807	5	4	309	1	0	0	0	0	0	0	1	0	456	1014	35	4	11740	4	AKAP9	7	91737807	Splice_Site	SNP	G	TCGA-HT-8564-01A-11D-2395-08	7913990	91737807	67400856	230	29512											
PON1	5444	broad.mit.edu	37	7	94931546	94931548	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr7:94931546_94931548delAGA	ENST00000222381.3	-	8	1109_1111	c.878_880delTCT	c.(877-882)ttctat>tat	p.F293del	PON1_ENST00000542556.1_In_Frame_Del_p.F293del	NM_000446.5	NP_000437.3	P27169	PON1_HUMAN	paraoxonase 1	293					aromatic compound catabolic process|carboxylic acid catabolic process|organophosphate catabolic process|phosphatidylcholine metabolic process|positive regulation of binding|positive regulation of cholesterol efflux|positive regulation of transporter activity|response to external stimulus	spherical high-density lipoprotein particle	aryldialkylphosphatase activity|arylesterase activity|calcium ion binding|phospholipid binding|protein homodimerization activity			autonomic_ganglia(1)|endometrium(2)|large_intestine(6)|lung(11)|pancreas(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	27	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		STAD - Stomach adenocarcinoma(171;0.0031)		Atorvastatin(DB01076)|Cefazolin(DB01327)	TCTGAGTCATAGAAGAAGATTTT	0.399													20	108	---	---	---	---						-	94931548	AGA	-	94931546	7	5	309	1	0	1	0	1	0	0	0	0	12296	420	15	0	195	0	PON1	7	94931546	In_Frame_Del	DEL	AGA	TCGA-HT-8564-01A-11D-2395-08	3193739	94931546	64207117	231	29513											
MCM7	4176	broad.mit.edu	37	7	99690987	99690989	+	In_Frame_Del	DEL	TCT	TCT	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr7:99690987_99690989delTCT	ENST00000303887.5	-	14	2529_2531	c.1884_1886delAGA	c.(1882-1887)gaagat>gat	p.E628del	MCM7_ENST00000354230.3_In_Frame_Del_p.E452del|MCM7_ENST00000343023.6_Intron	NM_005916.3	NP_005907.3	P33993	MCM7_HUMAN	minichromosome maintenance complex component 7	628	Interaction with ATRIP.				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of phosphorylation|response to DNA damage stimulus|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|protein binding			endometrium(1)|kidney(5)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	17	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)				Atorvastatin(DB01076)	TTCATTCACATCTTCTTTCTCCA	0.527													107	209	---	---	---	---						-	99690989	TCT	-	99690987	7	5	309	1	0	1	0	1	0	0	0	0	9442	1435	50	0	281	0	MCM7	7	99690987	In_Frame_Del	DEL	TCT	TCGA-HT-8564-01A-11D-2395-08	4759441	99690987	59447676	232	29514											
ZAN	7455	broad.mit.edu	37	7	100353038	100353039	+	RNA	INS	-	-	C			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr7:100353038_100353039insC	ENST00000542585.1	+	0	3457				ZAN_ENST00000538115.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000427578.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			TATGAGGTAAGCCCCCCGGGAT	0.545													9	179	---	---	---	---						C	100353039	-	C	100353038	6	5	309	0	1	1	1	0	0	0	0	0	17573	986	34	0		0	ZAN	7	100353038	RNA	INS	-	TCGA-HT-8564-01A-11D-2395-08	662051	100353038	58785625	233	29515											
ZAN	7455	broad.mit.edu	37	7	100390125	100390125	+	RNA	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr7:100390125C>T	ENST00000542585.1	+	0	7956				ZAN_ENST00000421100.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000427578.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			TGCCAGGAGGCGGGCGCTGCC	0.672													40	44					0	0	1	0	0	T	100390125	C	T	100390125	1	4	309	0	1	0	0	0	0	0	0	0	17573	768	27	1		1	ZAN	7	100390125	RNA	SNP	C	TCGA-HT-8564-01A-11D-2395-08	37087	100390125	58748538	234	29516											
FBXL13	222235	broad.mit.edu	37	7	102669158	102669158	+	Missense_Mutation	SNP	C	C	T	rs147832645	byFrequency	TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr7:102669158C>T	ENST00000393772.2	-	4	532	c.106G>A	c.(106-108)Gtc>Atc	p.V36I	FBXL13_ENST00000379306.3_Missense_Mutation_p.V36I|FBXL13_ENST00000471074.1_Intron|FBXL13_ENST00000455112.2_Missense_Mutation_p.V36I|FBXL13_ENST00000436908.1_Missense_Mutation_p.V36I|FBXL13_ENST00000379308.3_Missense_Mutation_p.V36I|FBXL13_ENST00000313221.4_Missense_Mutation_p.V36I|FBXL13_ENST00000456695.1_Missense_Mutation_p.V36I|FBXL13_ENST00000379305.3_Missense_Mutation_p.V36I			Q8NEE6	FXL13_HUMAN	F-box and leucine-rich repeat protein 13	36								p.V36F(1)		NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|skin(3)|stomach(1)	27						TCAGCCAGGACGACATTTTCA	0.343													29	41					0	0	1	0	0	T	102669158	C	T	102669158	3	4	309	1	0	0	0	0	1	0	0	0	5742	536	19	1	2169	1	FBXL13	7	102669158	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	2279033	102669158	56469505	235	29517											
TFEC	22797	broad.mit.edu	37	7	115590971	115590971	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr7:115590971G>A	ENST00000265440.7	-	6	652	c.472C>T	c.(472-474)Cga>Tga	p.R158*	TFEC_ENST00000393485.1_Nonsense_Mutation_p.R129*|TFEC_ENST00000320239.7_Nonsense_Mutation_p.R129*|TFEC_ENST00000457268.1_Nonsense_Mutation_p.R91*|TFEC_ENST00000484212.1_Nonsense_Mutation_p.R248*	NM_012252.3	NP_036384.1	O14948	TFEC_HUMAN	transcription factor EC	158	Helix-loop-helix motif.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity			NS(1)|kidney(1)|large_intestine(5)|lung(13)|prostate(2)|skin(1)|urinary_tract(2)	25			STAD - Stomach adenocarcinoma(10;0.00878)			TCCTTGATTCGGTAATTAATA	0.299													15	43					0	0	1	0	0	A	115590971	G	A	115590971	4	1	309	1	0	0	0	0	0	1	0	0	15862	1124	39	1	583	1	TFEC	7	115590971	Nonsense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	12921813	115590971	43547692	236	29518											
CADPS2	93664	broad.mit.edu	37	7	121965555	121965555	+	Silent	SNP	C	C	G			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr7:121965555C>G	ENST00000334010.7	-	27	4108	c.3687G>C	c.(3685-3687)ctG>ctC	p.L1229L	CADPS2_ENST00000412584.2_Silent_p.L1190L|CADPS2_ENST00000449022.2_Silent_p.L1231L|CADPS2_ENST00000313070.7_Silent_p.L1190L	NM_001167940.1	NP_001161412.1	Q86UW7	CAPS2_HUMAN	Ca++-dependent secretion activator 2	1231					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						TGAGCGTCTTCAGCTGGTAAA	0.398													8	15					0	0	1	0	0	G	121965555	C	G	121965555	2	3	309	1	0	0	0	0	0	0	0	1	2589	813	29	5		5	CADPS2	7	121965555	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	6374584	121965555	37173108	237	29519											
FLNC	2318	broad.mit.edu	37	7	128483620	128483620	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr7:128483620G>A	ENST00000325888.8	+	18	3061	c.2800G>A	c.(2800-2802)Gct>Act	p.A934T	FLNC_ENST00000346177.6_Missense_Mutation_p.A934T	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	934					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						CAAGTACACCGCTGTCCAGCA	0.612													43	79					0	0	1	0	0	A	128483620	G	A	128483620	3	1	309	1	0	0	0	0	1	0	0	0	5968	1087	38	1	2870	1	FLNC	7	128483620	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	6518065	128483620	30655043	238	29520											
SLC13A4	26266	broad.mit.edu	37	7	135375977	135375977	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr7:135375977delC	ENST00000354042.4	-	13	2104	c.1415delG	c.(1414-1416)ggafs	p.G473fs	C7orf73_ENST00000422968.1_Intron	NM_012450.2	NP_036582.2	Q9UKG4	S13A4_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 4	473						integral to plasma membrane	sodium:sulfate symporter activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	24						AGCATAGCCTCCCCCAACCAG	0.507													36	62	---	---	---	---						-	135375977	C	-	135375977	7	5	309	1	0	1	0	1	0	0	0	0	14449	855	30	0	481	0	SLC13A4	7	135375977	Frame_Shift_Del	DEL	C	TCGA-HT-8564-01A-11D-2395-08	6892357	135375977	23762686	239	29521											
MGAM	8972	broad.mit.edu	37	7	141724872	141724872	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr7:141724872C>T	ENST00000475668.2	+	8	959	c.905C>T	c.(904-906)gCg>gTg	p.A302V	MGAM_ENST00000549489.2_Missense_Mutation_p.A302V			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	302	Maltase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TTGTATGGTGCGCAGACATTC	0.398													19	44					0	0	1	0	0	T	141724872	C	T	141724872	3	4	309	1	0	0	0	0	1	0	0	0	9591	768	27	1	931	1	MGAM	7	141724872	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	6348895	141724872	17413791	240	29522											
EPHB6	2051	broad.mit.edu	37	7	142561447	142561448	+	Frame_Shift_Ins	INS	-	-	G			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr7:142561447_142561448insG	ENST00000392957.2	+	6	946_947	c.159_160insG	c.(160-162)gggfs	p.G54fs	EPHB6_ENST00000411471.2_Intron|EPHB6_ENST00000442129.1_Frame_Shift_Ins_p.G54fs	NM_004445.3	NP_004436.3	O15197	EPHB6_HUMAN	EPH receptor B6	54						extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					CCTACCCACCAGGGGGGGTGAG	0.574													7	165	---	---	---	---						G	142561448	-	G	142561447	7	5	309	1	0	1	1	0	0	0	0	0	5206	175	7	0	165	0	EPHB6	7	142561447	Frame_Shift_Ins	INS	-	TCGA-HT-8564-01A-11D-2395-08	836575	142561447	16577216	241	29523											
NOBOX	135935	broad.mit.edu	37	7	144096159	144096159	+	Silent	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr7:144096159G>A	ENST00000467773.1	-	8	1352	c.1353C>T	c.(1351-1353)gcC>gcT	p.A451A	NOBOX_ENST00000483238.1_Silent_p.A419A|NOBOX_ENST00000223140.5_Silent_p.A334A	NM_001080413.3	NP_001073882.3	O60393	NOBOX_HUMAN	NOBOX oogenesis homeobox	451	Pro-rich.				cell differentiation|oogenesis	nucleus	sequence-specific DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	26	Melanoma(164;0.14)					AAGGAAGATCGGCCCTTCGCA	0.632													11	25					0	0	1	0	0	A	144096159	G	A	144096159	2	1	309	1	0	0	0	0	0	0	0	1	10559	1103	39	1		1	NOBOX	7	144096159	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	1534712	144096159	15042504	242	29524											
CNTNAP2	26047	broad.mit.edu	37	7	147600796	147600796	+	Silent	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr7:147600796C>T	ENST00000361727.3	+	14	2754	c.2238C>T	c.(2236-2238)gaC>gaT	p.D746D		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	746	Fibrinogen C-terminal.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			GTAACTGCGACGCGGACTACA	0.537										HNSCC(39;0.1)			15	26					0	0	1	0	0	T	147600796	C	T	147600796	2	4	309	1	0	0	0	0	0	0	0	1	3670	535	19	1		1	CNTNAP2	7	147600796	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	3504637	147600796	11537867	243	29525											
SSPO	23145	broad.mit.edu	37	7	149506123	149506123	+	RNA	DEL	C	C	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr7:149506123delC	ENST00000378016.2	+	0	9121							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CTGGGCACCACCCCCAGGTCC	0.701													8	33	---	---	---	---						-	149506123	C	-	149506123	6	5	309	0	1	1	0	1	0	0	0	0	15245	522	18	0		0	SSPO	7	149506123	RNA	DEL	C	TCGA-HT-8564-01A-11D-2395-08	1905327	149506123	9632540	244	29526											
SLC4A2	6522	broad.mit.edu	37	7	150761737	150761737	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr7:150761737delG	ENST00000485713.1	+	4	1382	c.342delG	c.(340-342)ccgfs	p.P114fs	SLC4A2_ENST00000413384.2_Frame_Shift_Del_p.P114fs|SLC4A2_ENST00000310317.5_Frame_Shift_Del_p.P32fs|SLC4A2_ENST00000392826.2_Frame_Shift_Del_p.P105fs|SLC4A2_ENST00000461735.1_Frame_Shift_Del_p.P100fs	NM_001199692.1	NP_001186621.1	P04920	B3A2_HUMAN	solute carrier family 4 (anion exchanger), member 2	114	Pro-rich.				bicarbonate transport	integral to membrane|membrane fraction	inorganic anion exchanger activity			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(14)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GAGCCTCCCCGACTGGAGAAA	0.687													35	61	---	---	---	---						-	150761737	G	-	150761737	7	5	309	1	0	1	0	1	0	0	0	0	14709	1045	37	0	352	0	SLC4A2	7	150761737	Frame_Shift_Del	DEL	G	TCGA-HT-8564-01A-11D-2395-08	1255614	150761737	8376926	245	29527											
HTR5A	3361	broad.mit.edu	37	7	154862918	154862918	+	Silent	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr7:154862918C>T	ENST00000287907.2	+	1	885	c.309C>T	c.(307-309)tcC>tcT	p.S103S	HTR5A-AS1_ENST00000543018.1_Silent_p.P32P|HTR5A-AS1_ENST00000395731.2_Silent_p.P32P|HTR5A-AS1_ENST00000493904.1_5'UTR	NM_024012.3	NP_076917.1	P47898	5HT5A_HUMAN	5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled	103						integral to plasma membrane	serotonin receptor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)		ACGAGCTGTCCGGGCGCCGCT	0.677													41	58					0	0	1	0	0	T	154862918	C	T	154862918	2	4	309	1	0	0	0	0	0	0	0	1	7494	639	23	1		1	HTR5A	7	154862918	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	4101181	154862918	4275745	246	29528											
RBM33	155435	broad.mit.edu	37	7	155457901	155457901	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr7:155457901G>A	ENST00000401878.3	+	2	274	c.76G>A	c.(76-78)Gcg>Acg	p.A26T	RBM33_ENST00000287912.3_Missense_Mutation_p.A26T|RBM33_ENST00000392759.3_Missense_Mutation_p.A26T	NM_053043.2	NP_444271.2	Q96EV2	RBM33_HUMAN	RNA binding motif protein 33	26							nucleotide binding|RNA binding			breast(3)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	27	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)		TAAGCCTGGCGCGGAACGGTC	0.453													41	59					0	0	1	0	0	A	155457901	G	A	155457901	3	1	309	1	0	0	0	0	1	0	0	0	13182	1087	38	1	82	1	RBM33	7	155457901	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	594983	155457901	3680762	247	29529											
PRSS55	203074	broad.mit.edu	37	8	10383214	10383214	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr8:10383214G>A	ENST00000328655.3	+	1	159	c.119G>A	c.(118-120)cGc>cAc	p.R40H	PRSS51_ENST00000523024.1_RNA|PRSS55_ENST00000522210.1_Missense_Mutation_p.R40H	NM_198464.3	NP_940866.2	Q6UWB4	PRS55_HUMAN	protease, serine, 55	40					proteolysis	integral to membrane	serine-type endopeptidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)	31						GGAGCCCACCGCCCTCAGCCC	0.662													13	23					0	0	1	0	0	A	10383214	G	A	10383214	3	1	309	1	0	0	0	0	1	0	0	0	12683	1087	38	1	121	1	PRSS55	8	10383214	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08		10383214	135980808	248	29530											
FAM167A	83648	broad.mit.edu	37	8	11301958	11301958	+	Translation_Start_Site	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr8:11301958C>T	ENST00000284486.4	-	0	501				FAM167A_ENST00000528897.1_De_novo_Start_OutOfFrame|FAM167A_ENST00000534308.1_De_novo_Start_OutOfFrame	NM_053279.2	NP_444509.2	Q96KS9	F167A_HUMAN	family with sequence similarity 167, member A											breast(1)|endometrium(1)|large_intestine(4)|lung(2)|prostate(1)	9						TGCGAGGGCACGGGGGGCGCA	0.682													24	84					0	0	1	0	0	T	11301958	C	T	11301958	1	4	309	1	0	0	0	0	0	0	0	0	5513	551	19	1		1	FAM167A	8	11301958	Translation_Start_Site	SNP	C	TCGA-HT-8564-01A-11D-2395-08	918744	11301958	135062064	249	29531											
BMP1	649	broad.mit.edu	37	8	22037987	22037987	+	Silent	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr8:22037987C>T	ENST00000306385.5	+	8	1738	c.1068C>T	c.(1066-1068)ccC>ccT	p.P356P	BMP1_ENST00000397816.3_Silent_p.P356P|BMP1_ENST00000306349.8_Silent_p.P356P|BMP1_ENST00000354870.5_3'UTR|BMP1_ENST00000397814.3_Silent_p.P356P	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN	bone morphogenetic protein 1	356	CUB 1.				cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis	extracellular space	calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		CTGTCACACCCGGGGAGAAGG	0.612													51	83					0	0	1	0	0	T	22037987	C	T	22037987	2	4	309	1	0	0	0	0	0	0	0	1	1455	639	23	1		1	BMP1	8	22037987	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	10736029	22037987	124326035	250	29532											
CLU	1191	broad.mit.edu	37	8	27468075	27468076	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr8:27468075_27468076delAG	ENST00000316403.10	-	2	418_419	c.13_14delCT	c.(13-15)ctgfs	p.L7fs	CLU_ENST00000405140.3_Frame_Shift_Del_p.L7fs|CLU_ENST00000523500.1_Frame_Shift_Del_p.L7fs|CLU_ENST00000546343.1_Frame_Shift_Del_p.L18fs|CLU_ENST00000560366.1_Frame_Shift_Del_p.L59fs			P10909	CLUS_HUMAN	clusterin	7					chaperone-mediated protein folding|complement activation, classical pathway|innate immune response|lipid metabolic process|negative regulation of apoptosis|negative regulation of protein homooligomerization|platelet activation|platelet degranulation|positive regulation of NF-kappaB transcription factor activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|response to misfolded protein|response to virus|reverse cholesterol transport	chromaffin granule|cytosol|endoplasmic reticulum|microsome|mitochondrial membrane|nucleus|perinuclear region of cytoplasm|platelet alpha granule lumen|spherical high-density lipoprotein particle	misfolded protein binding|ubiquitin protein ligase binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)	21		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|Colorectal(74;0.132)		AAACAGCAGCAGAGTCTTCATC	0.584													28	41	---	---	---	---						-	27468076	AG	-	27468075	7	5	309	1	0	1	0	1	0	0	0	0	3591	188	7	0	1367	0	CLU	8	27468075	Frame_Shift_Del	DEL	AG	TCGA-HT-8564-01A-11D-2395-08	5430088	27468075	118895947	251	29533											
KIF13B	23303	broad.mit.edu	37	8	28989840	28989840	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr8:28989840C>T	ENST00000524189.1	-	23	2965	c.2927G>A	c.(2926-2928)cGt>cAt	p.R976H	CTD-2647L4.1_ENST00000523661.1_RNA	NM_015254.3	NP_056069.2	Q9NQT8	KI13B_HUMAN	kinesin family member 13B	976					microtubule-based movement|protein targeting|signal transduction|T cell activation	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein kinase binding			endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		CCGAAGACTACGTGTCTTTGC	0.388													30	70					0	0	1	0	0	T	28989840	C	T	28989840	3	4	309	1	0	0	0	0	1	0	0	0	8317	536	19	1	2625	1	KIF13B	8	28989840	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	1521765	28989840	117374182	252	29534											
HTRA4	203100	broad.mit.edu	37	8	38840023	38840023	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr8:38840023C>T	ENST00000302495.4	+	7	1221	c.1121C>T	c.(1120-1122)gCg>gTg	p.A374V		NM_153692.3	NP_710159.1	P83105	HTRA4_HUMAN	HtrA serine peptidase 4	374					proteolysis|regulation of cell growth	extracellular region	insulin-like growth factor binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)	11		all_lung(54;0.0344)|Hepatocellular(245;0.0512)|Lung NSC(58;0.0955)	LUSC - Lung squamous cell carcinoma(45;1.5e-07)			CCAGGAAAGGCGTTTTCAAAT	0.428													16	46					0	0	1	0	0	T	38840023	C	T	38840023	3	4	309	1	0	0	0	0	1	0	0	0	7500	768	27	1	1147	1	HTRA4	8	38840023	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	9850183	38840023	107523999	253	29535											
ANK1	286	broad.mit.edu	37	8	41554024	41554024	+	Silent	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr8:41554024C>T	ENST00000396942.1	-	26	2900	c.2817G>A	c.(2815-2817)ccG>ccA	p.P939P	ANK1_ENST00000396945.1_Silent_p.P939P|ANK1_ENST00000265709.8_Silent_p.P980P|ANK1_ENST00000379758.2_Silent_p.P939P|ANK1_ENST00000352337.4_Silent_p.P939P|ANK1_ENST00000347528.4_Silent_p.P939P|ANK1_ENST00000289734.7_Silent_p.P939P			P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	939	ZU5.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			ACGTCCGTGGCGGGATCACCA	0.677													25	45					0	0	1	0	0	T	41554024	C	T	41554024	2	4	309	1	0	0	0	0	0	0	0	1	616	755	27	1		1	ANK1	8	41554024	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	2714001	41554024	104809998	254	29536											
ANK1	286	broad.mit.edu	37	8	41577305	41577305	+	Silent	SNP	G	G	A	rs61758867	byFrequency	TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr8:41577305G>A	ENST00000396942.1	-	10	1064	c.981C>T	c.(979-981)taC>taT	p.Y327Y	ANK1_ENST00000396945.1_Silent_p.Y327Y|ANK1_ENST00000265709.8_Silent_p.Y360Y|ANK1_ENST00000379758.2_Silent_p.Y327Y|ANK1_ENST00000352337.4_Silent_p.Y327Y|ANK1_ENST00000347528.4_Silent_p.Y327Y|ANK1_ENST00000289734.7_Silent_p.Y327Y			P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	327	89 kDa domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			TCTCTGCGTCGTATTGCAACA	0.567													51	103					0	0	1	0	0	A	41577305	G	A	41577305	2	1	309	1	0	0	0	0	0	0	0	1	616	1140	40	1		1	ANK1	8	41577305	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	23281	41577305	104786717	255	29537											
MTFR1	9650	broad.mit.edu	37	8	66620197	66620197	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr8:66620197delA	ENST00000262146.4	+	7	1010	c.884delA	c.(883-885)gaafs	p.E295fs	MTFR1_ENST00000458689.2_Frame_Shift_Del_p.E262fs|MTFR1_ENST00000517944.1_3'UTR	NM_014637.3	NP_055452.3	Q15390	MTFR1_HUMAN	mitochondrial fission regulator 1	295						mitochondrion|plasma membrane				cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(1)|pancreas(1)|urinary_tract(1)	11			Epithelial(68;0.0526)|BRCA - Breast invasive adenocarcinoma(89;0.156)|all cancers(69;0.171)|OV - Ovarian serous cystadenocarcinoma(28;0.194)			GATGAAGTTGAAAAAGGAATT	0.443													43	125	---	---	---	---						-	66620197	A	-	66620197	7	5	309	1	0	1	0	1	0	0	0	0	9973	246	9	0	906	0	MTFR1	8	66620197	Frame_Shift_Del	DEL	A	TCGA-HT-8564-01A-11D-2395-08	25042892	66620197	79743825	256	29538											
PI15	51050	broad.mit.edu	37	8	75737579	75737579	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr8:75737579C>T	ENST00000260113.2	+	2	274	c.95C>T	c.(94-96)cCg>cTg	p.P32L	PI15_ENST00000523773.1_Missense_Mutation_p.P32L|RP11-758M4.4_ENST00000523860.1_RNA|RP11-758M4.4_ENST00000518128.1_RNA	NM_015886.3	NP_056970.1	O43692	PI15_HUMAN	peptidase inhibitor 15	32						extracellular region	peptidase inhibitor activity	p.P32Q(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|skin(1)	30	Breast(64;0.137)		BRCA - Breast invasive adenocarcinoma(89;0.104)|Epithelial(68;0.118)			GACTCATCCCCGCCAACCAAT	0.478													57	93					0	0	1	0	0	T	75737579	C	T	75737579	3	4	309	1	0	0	0	0	1	0	0	0	11916	652	23	1	97	1	PI15	8	75737579	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	9117382	75737579	70626443	257	29539											
CPNE3	8895	broad.mit.edu	37	8	87559941	87559941	+	Silent	SNP	T	T	C			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr8:87559941T>C	ENST00000521271.1	+	11	984	c.822T>C	c.(820-822)atT>atC	p.I274I	CPNE3_ENST00000198765.4_Silent_p.I274I	NM_003909.3	NP_003900.1	O75131	CPNE3_HUMAN	copine III	274					lipid metabolic process|vesicle-mediated transport	cytosol	calcium-dependent phospholipid binding|protein serine/threonine kinase activity|transporter activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	23						ATTTTTAGATTACAGTAGAAT	0.308													7	10					0	0	1	0	0	C	87559941	T	C	87559941	2	2	309	1	0	0	0	0	0	0	0	1	3836	1742	61	3		3	CPNE3	8	87559941	Silent	SNP	T	TCGA-HT-8564-01A-11D-2395-08	11822362	87559941	58804081	258	29540											
RUNX1T1	862	broad.mit.edu	37	8	92972726	92972726	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr8:92972726C>T	ENST00000523629.1	-	12	2013	c.1559G>A	c.(1558-1560)cGt>cAt	p.R520H	RUNX1T1_ENST00000265814.3_Missense_Mutation_p.R520H|RUNX1T1_ENST00000520724.1_Missense_Mutation_p.R483H|RUNX1T1_ENST00000518844.1_Missense_Mutation_p.R493H|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.R483H|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.R531H|RUNX1T1_ENST00000422361.2_Missense_Mutation_p.R483H|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.R493H	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	520					generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R483H(2)|p.R520H(2)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			ACTCGCTTTACGGCCACAATT	0.458													23	39					0	0	1	0	0	T	92972726	C	T	92972726	3	4	309	1	0	0	0	0	1	0	0	0	13799	536	19	1	259	1	RUNX1T1	8	92972726	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	5412785	92972726	53391296	259	29541											
VPS13B	157680	broad.mit.edu	37	8	100796702	100796702	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr8:100796702delC	ENST00000358544.2	+	43	8125	c.8014delC	c.(8014-8016)cagfs	p.Q2672fs	VPS13B_ENST00000357162.2_Frame_Shift_Del_p.Q2647fs|VPS13B_ENST00000395996.1_3'UTR	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	2672					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			CAAATCCCCACAGGTATTTGA	0.468													39	69	---	---	---	---						-	100796702	C	-	100796702	7	5	309	1	0	1	0	1	0	0	0	0	17250	479	17	0	8374	0	VPS13B	8	100796702	Frame_Shift_Del	DEL	C	TCGA-HT-8564-01A-11D-2395-08	7823976	100796702	45567320	260	29542											
GPR20	2843	broad.mit.edu	37	8	142367203	142367203	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr8:142367203G>A	ENST00000377741.3	-	2	911	c.821C>T	c.(820-822)aCg>aTg	p.T274M		NM_005293.2	NP_005284.2	Q99678	GPR20_HUMAN	G protein-coupled receptor 20	274						integral to plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(3)|lung(4)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	15	all_cancers(97;4.32e-16)|all_epithelial(106;6.61e-14)|Lung NSC(106;9.4e-06)|all_lung(105;1.35e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0415)			CACGAGGCTCGTGTGGTGTGG	0.637													11	45					0	0	1	0	0	A	142367203	G	A	142367203	3	1	309	1	0	0	0	0	1	0	0	0	6720	1145	40	1	259	1	GPR20	8	142367203	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	41570501	142367203	3996819	261	29543											
ARC	23237	broad.mit.edu	37	8	143694472	143694472	+	Silent	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr8:143694472G>A	ENST00000356613.2	-	1	2361	c.1161C>T	c.(1159-1161)tcC>tcT	p.S387S		NM_015193.4	NP_056008.1	Q7LC44	ARC_HUMAN	activity-regulated cytoskeleton-associated protein	387					endocytosis	acrosomal vesicle|cell junction|dendritic spine|endosome|postsynaptic density|postsynaptic membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	13	all_cancers(97;3.55e-12)|all_epithelial(106;1.03e-08)|Lung NSC(106;0.000353)|all_lung(105;0.00092)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.0279)				CACTGGCCACGGACTCGCTGT	0.701													11	11					0	0	1	0	0	A	143694472	G	A	143694472	2	1	309	1	0	0	0	0	0	0	0	1	838	1103	39	1		1	ARC	8	143694472	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	1327269	143694472	2669550	262	29544											
ZFP41	286128	broad.mit.edu	37	8	144332526	144332526	+	Silent	SNP	C	C	T	rs149671213		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr8:144332526C>T	ENST00000330701.4	+	2	882	c.513C>T	c.(511-513)taC>taT	p.Y171Y	ZFP41_ENST00000522452.1_Silent_p.Y171Y|ZFP41_ENST00000520584.1_Silent_p.Y171Y	NM_173832.4	NP_776193.1	Q8N8Y5	ZFP41_HUMAN	ZFP41 zinc finger protein	171					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|lung(4)|ovary(1)	8	all_cancers(97;1.01e-10)|all_epithelial(106;4.6e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)			AGAAGCCCTACGAATGCACGC	0.592													40	114					0	0	1	0	0	T	144332526	C	T	144332526	2	4	309	1	0	0	0	0	0	0	0	1	17707	547	19	1		1	ZFP41	8	144332526	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	638054	144332526	2031496	263	29545	133	2									
ZFP41	286128	broad.mit.edu	37	8	144332534	144332534	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr8:144332534C>T	ENST00000330701.4	+	2	890	c.521C>T	c.(520-522)aCg>aTg	p.T174M	ZFP41_ENST00000522452.1_Missense_Mutation_p.T174M|ZFP41_ENST00000520584.1_Missense_Mutation_p.T174M	NM_173832.4	NP_776193.1	Q8N8Y5	ZFP41_HUMAN	ZFP41 zinc finger protein	174					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|lung(4)|ovary(1)	8	all_cancers(97;1.01e-10)|all_epithelial(106;4.6e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)			TACGAATGCACGCACTGTGGG	0.592													42	112					0	0	1	0	0	T	144332534	C	T	144332534	3	4	309	1	0	0	0	0	1	0	0	0	17707	536	19	1	523	1	ZFP41	8	144332534	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	8	144332534	2031488	264	29546	133	2									
PLEC	5339	broad.mit.edu	37	8	144991396	144991396	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr8:144991396C>T	ENST00000322810.4	-	32	13173	c.13004G>A	c.(13003-13005)cGc>cAc	p.R4335H	PLEC_ENST00000527096.1_Missense_Mutation_p.R4221H|PLEC_ENST00000356346.3_Missense_Mutation_p.R4184H|PLEC_ENST00000354958.2_Missense_Mutation_p.R4176H|PLEC_ENST00000354589.3_Missense_Mutation_p.R4198H|PLEC_ENST00000357649.2_Missense_Mutation_p.R4202H|PLEC_ENST00000436759.2_Missense_Mutation_p.R4225H|PLEC_ENST00000398774.2_Missense_Mutation_p.R4166H|PLEC_ENST00000345136.3_Missense_Mutation_p.R4198H	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	4335	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GCGCCCGGAGCGGCGGTCGAT	0.637													21	47					0	0	1	0	0	T	144991396	C	T	144991396	3	4	309	1	0	0	0	0	1	0	0	0	12100	768	27	1	1054	1	PLEC	8	144991396	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	658862	144991396	1372626	265	29547											
PLEC	5339	broad.mit.edu	37	8	144999421	144999421	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr8:144999421C>T	ENST00000322810.4	-	31	5256	c.5087G>A	c.(5086-5088)cGa>cAa	p.R1696Q	PLEC_ENST00000527096.1_Missense_Mutation_p.R1582Q|PLEC_ENST00000356346.3_Missense_Mutation_p.R1545Q|PLEC_ENST00000354958.2_Missense_Mutation_p.R1537Q|PLEC_ENST00000354589.3_Missense_Mutation_p.R1559Q|PLEC_ENST00000357649.2_Missense_Mutation_p.R1563Q|PLEC_ENST00000436759.2_Missense_Mutation_p.R1586Q|PLEC_ENST00000398774.2_Missense_Mutation_p.R1527Q|PLEC_ENST00000345136.3_Missense_Mutation_p.R1559Q	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	1696	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CTGCCGCGCTCGCTCCACCTC	0.741													4	15					0	0	1	0	0	T	144999421	C	T	144999421	3	4	309	1	0	0	0	0	1	0	0	0	12100	884	31	1	8975	1	PLEC	8	144999421	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	8025	144999421	1364601	266	29548											
PARP10	84875	broad.mit.edu	37	8	145058234	145058234	+	Silent	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr8:145058234G>A	ENST00000313028.7	-	7	1813	c.1719C>T	c.(1717-1719)aaC>aaT	p.N573N	PARP10_ENST00000525773.1_Silent_p.N585N|PARP10_ENST00000524918.1_Silent_p.N573N	NM_032789.3	NP_116178.2	Q53GL7	PAR10_HUMAN	poly (ADP-ribose) polymerase family, member 10	573						Golgi apparatus|nucleolus	NAD+ ADP-ribosyltransferase activity|nucleotide binding			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(2)	27	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GGGTGTGGGCGTTGCCAGGGA	0.662													13	37					0	0	1	0	0	A	145058234	G	A	145058234	2	1	309	1	0	0	0	0	0	0	0	1	11502	1136	40	1		1	PARP10	8	145058234	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	58813	145058234	1305788	267	29549											
FOXD4	2298	broad.mit.edu	37	9	117366	117367	+	Frame_Shift_Ins	INS	-	-	G			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr9:117366_117367insG	ENST00000382500.2	-	1	1050_1051	c.753_754insC	c.(751-756)cccgggfs	p.G252fs		NM_207305.4	NP_997188.2	Q12950	FOXD4_HUMAN	forkhead box D4	252	Pro-rich.				axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			endometrium(5)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	14	all_lung(41;0.218)	all_cancers(5;0.0395)|Acute lymphoblastic leukemia(5;1.91e-07)|all_hematologic(5;1.95e-06)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		GGGCGTCTCCCGGGGCCGGTGT	0.728													8	69	---	---	---	---						G	117367	-	G	117366	7	5	309	1	0	1	1	0	0	0	0	0	6032	652	23	0	569	0	FOXD4	9	117366	Frame_Shift_Ins	INS	-	TCGA-HT-8564-01A-11D-2395-08		117366	141096065	268	29550											
KDM4C	23081	broad.mit.edu	37	9	6990511	6990511	+	Silent	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr9:6990511G>A	ENST00000381309.3	+	12	2338	c.1773G>A	c.(1771-1773)gcG>gcA	p.A591A	KDM4C_ENST00000535193.1_Silent_p.A613A|KDM4C_ENST00000442236.2_Intron|KDM4C_ENST00000381306.3_Silent_p.A591A|KDM4C_ENST00000536108.1_Silent_p.A410A|KDM4C_ENST00000543771.1_Silent_p.A591A|KDM4C_ENST00000428870.2_Silent_p.A278A	NM_015061.3	NP_055876.2	Q9H3R0	KDM4C_HUMAN	lysine (K)-specific demethylase 4C	591					positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	nuclear chromatin	androgen receptor binding|enzyme binding|histone demethylase activity (H3-K9 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43						AGCAGCAGGCGCCAAGTGATG	0.408													5	31					0	0	1	0	0	A	6990511	G	A	6990511	2	1	309	1	0	0	0	0	0	0	0	1	8174	1074	38	1		1	KDM4C	9	6990511	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	6873145	6990511	134222920	269	29551											
PTPRD	5789	broad.mit.edu	37	9	8636794	8636794	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr9:8636794C>T	ENST00000381196.4	-	10	658	c.115G>A	c.(115-117)Gga>Aga	p.G39R	PTPRD_ENST00000397611.3_Missense_Mutation_p.G39R|PTPRD_ENST00000486161.1_Missense_Mutation_p.G39R|PTPRD_ENST00000360074.4_Missense_Mutation_p.G39R|PTPRD_ENST00000397617.3_Missense_Mutation_p.G39R|PTPRD_ENST00000356435.5_Missense_Mutation_p.G39R|PTPRD_ENST00000358503.5_Missense_Mutation_p.G39R|PTPRD_ENST00000463477.1_Missense_Mutation_p.G39R|PTPRD_ENST00000537002.1_Missense_Mutation_p.G39R|PTPRD_ENST00000355233.5_Missense_Mutation_p.G39R|PTPRD_ENST00000540109.1_Missense_Mutation_p.G39R|PTPRD_ENST00000397606.3_Missense_Mutation_p.G39R	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	39	Ig-like C2-type 1.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.G39*(4)		NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		GAGGCAACTCCGCCAGAGACC	0.413										TSP Lung(15;0.13)			50	96					0	0	1	0	0	T	8636794	C	T	8636794	3	4	309	1	0	0	0	0	1	0	0	0	12851	661	23	1	5827	1	PTPRD	9	8636794	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	1646283	8636794	132576637	270	29552											
CCIN	881	broad.mit.edu	37	9	36170732	36170732	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr9:36170732delC	ENST00000335119.2	+	1	1344	c.1233delC	c.(1231-1233)atcfs	p.I411fs		NM_005893.2	NP_005884.2	Q13939	CALI_HUMAN	calicin	411					cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton			breast(3)|endometrium(2)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(4)	21			STAD - Stomach adenocarcinoma(86;0.228)			AGATGAGCATCCCCATGGATG	0.552													21	141	---	---	---	---						-	36170732	C	-	36170732	7	5	309	1	0	1	0	1	0	0	0	0	2898	845	30	0	1235	0	CCIN	9	36170732	Frame_Shift_Del	DEL	C	TCGA-HT-8564-01A-11D-2395-08	27533938	36170732	105042699	271	29553											
ZNF658	26149	broad.mit.edu	37	9	40774426	40774426	+	Silent	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr9:40774426G>A	ENST00000602553.1	-	5	1143	c.849C>T	c.(847-849)acC>acT	p.T283T	ZNF658_ENST00000441795.1_Silent_p.T281T|ZNF658_ENST00000377626.3_Silent_p.T283T			Q5TYW1	ZN658_HUMAN	zinc finger protein 658	283					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	46				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		ATTCAACAGCGGTGGTTTTGT	0.383													8	185					0	0	1	0	0	A	40774426	G	A	40774426	2	1	309	1	0	0	0	0	0	0	0	1	18126	1103	39	1		1	ZNF658	9	40774426	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	4603694	40774426	100439005	272	29554											
TRPM6	140803	broad.mit.edu	37	9	77376996	77376996	+	Missense_Mutation	SNP	G	G	A	rs141526694	byFrequency	TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr9:77376996G>A	ENST00000451710.3	-	26	4828	c.4591C>T	c.(4591-4593)Cgc>Tgc	p.R1531C	TRPM6_ENST00000376864.4_Missense_Mutation_p.R1531C|TRPM6_ENST00000360774.1_Missense_Mutation_p.R1531C|TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000361255.3_Missense_Mutation_p.R1526C|TRPM6_ENST00000449912.2_Missense_Mutation_p.R1526C|TRPM6_ENST00000376871.3_Intron			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1531					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						CTGTATCTGCGGAGAGGATTG	0.423													41	70					0	0	1	0	0	A	77376996	G	A	77376996	3	1	309	1	0	0	0	0	1	0	0	0	16651	1116	39	1	1533	1	TRPM6	9	77376996	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	36602570	77376996	63836435	273	29555											
TRPM6	140803	broad.mit.edu	37	9	77390827	77390827	+	Silent	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr9:77390827G>A	ENST00000451710.3	-	24	3612	c.3375C>T	c.(3373-3375)caC>caT	p.H1125H	TRPM6_ENST00000376864.4_Silent_p.H1125H|TRPM6_ENST00000360774.1_Silent_p.H1125H|TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000361255.3_Silent_p.H1120H|TRPM6_ENST00000449912.2_Silent_p.H1120H|TRPM6_ENST00000376871.3_Intron			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1125					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						CTTCTTGGTCGTGAGGAGCTC	0.537													68	108					0	0	1	0	0	A	77390827	G	A	77390827	2	1	309	1	0	0	0	0	0	0	0	1	16651	1136	40	1		1	TRPM6	9	77390827	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	13831	77390827	63822604	274	29556											
PCSK5	5125	broad.mit.edu	37	9	78943040	78943040	+	Silent	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr9:78943040C>T	ENST00000545128.1	+	32	4912	c.4374C>T	c.(4372-4374)tcC>tcT	p.S1458S		NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	676					anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity	p.S1458S(1)		NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						GCTCACCCTCCGAGTACTGGG	0.592													13	372					0	0	1	0	0	T	78943040	C	T	78943040	2	4	309	1	0	0	0	0	0	0	0	1	11650	667	23	1		1	PCSK5	9	78943040	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	1552213	78943040	62270391	275	29557											
KIF27	55582	broad.mit.edu	37	9	86465050	86465050	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr9:86465050C>T	ENST00000297814.2	-	16	3663	c.3520G>A	c.(3520-3522)Gaa>Aaa	p.E1174K	RP11-575L7.4_ENST00000586206.1_RNA|RP11-575L7.4_ENST00000589817.1_RNA|KIF27_ENST00000413982.1_Missense_Mutation_p.E1108K|RP11-575L7.4_ENST00000590813.1_RNA|RP11-575L7.4_ENST00000608866.1_RNA|RP11-575L7.4_ENST00000590368.1_RNA|KIF27_ENST00000334204.2_Missense_Mutation_p.E1077K|RP11-575L7.4_ENST00000591217.1_RNA	NM_017576.1	NP_060046.1	Q86VH2	KIF27_HUMAN	kinesin family member 27	1174					cilium assembly|microtubule-based movement	cilium|cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						ATCTTTTGTTCGTGTTCCTTT	0.423													38	161					0	0	1	0	0	T	86465050	C	T	86465050	3	4	309	1	0	0	0	0	1	0	0	0	8338	893	31	1	697	1	KIF27	9	86465050	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	7522010	86465050	54748381	276	29558											
ZCCHC6	79670	broad.mit.edu	37	9	88967854	88967854	+	Silent	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr9:88967854G>A	ENST00000375961.2	-	2	475	c.261C>T	c.(259-261)ccC>ccT	p.P87P	ZCCHC6_ENST00000277141.6_5'UTR|ZCCHC6_ENST00000375963.3_Silent_p.P87P|ZCCHC6_ENST00000375960.2_Silent_p.P87P			Q5VYS8	TUT7_HUMAN	zinc finger, CCHC domain containing 6	87					RNA 3'-end processing		nucleic acid binding|RNA uridylyltransferase activity|zinc ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	46						TCATCCAAGCGGGTTGACTGT	0.433													94	184					0	0	1	0	0	A	88967854	G	A	88967854	2	1	309	1	0	0	0	0	0	0	0	1	17650	1103	39	1		1	ZCCHC6	9	88967854	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	2502804	88967854	52245577	277	29559											
SEMA4D	10507	broad.mit.edu	37	9	91993634	91993634	+	Silent	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr9:91993634G>A	ENST00000450295.1	-	16	3350	c.2574C>T	c.(2572-2574)gaC>gaT	p.D858D	SEMA4D_ENST00000339861.4_Intron|SEMA4D_ENST00000438547.2_Silent_p.D858D|SEMA4D_ENST00000343780.4_Intron|SEMA4D_ENST00000455551.2_Intron|SEMA4D_ENST00000422704.2_Silent_p.D858D|SEMA4D_ENST00000356444.2_Silent_p.D858D|SEMA4D_ENST00000420987.1_Intron			Q92854	SEM4D_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4D	858					anti-apoptosis|axon guidance|cell adhesion|immune response	integral to membrane|plasma membrane	receptor activity|receptor binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(8)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34						CTCCATCTGCGTCTGAGTCAG	0.582													30	42					0	0	1	0	0	A	91993634	G	A	91993634	2	1	309	1	0	0	0	0	0	0	0	1	14088	1136	40	1		1	SEMA4D	9	91993634	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	3025780	91993634	49219797	278	29560											
FGD3	89846	broad.mit.edu	37	9	95738979	95738979	+	Silent	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr9:95738979C>T	ENST00000375482.3	+	3	937	c.441C>T	c.(439-441)gcC>gcT	p.A147A	FGD3_ENST00000416701.2_Silent_p.A147A|FGD3_ENST00000468206.1_3'UTR|FGD3_ENST00000337352.6_Silent_p.A147A	NM_001083536.1	NP_001077005.1	Q5JSP0	FGD3_HUMAN	FYVE, RhoGEF and PH domain containing 3	147					actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1)	17						ACAAGGATGCCGGCCTGGCCC	0.637													13	34					0	0	1	0	0	T	95738979	C	T	95738979	2	4	309	1	0	0	0	0	0	0	0	1	5867	639	23	1		1	FGD3	9	95738979	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	3745345	95738979	45474452	279	29561											
PTPN3	5774	broad.mit.edu	37	9	112166752	112166752	+	Silent	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr9:112166752G>A	ENST00000412145.1	-	14	4089	c.1536C>T	c.(1534-1536)agC>agT	p.S512S	PTPN3_ENST00000446349.1_Silent_p.S467S|PTPN3_ENST00000374541.2_Silent_p.S643S|PTPN3_ENST00000262539.3_Silent_p.S489S|PTPN3_ENST00000394827.3_Silent_p.S111S	NM_001145369.1|NM_001145371.1	NP_001138841.1|NP_001138843.1	P26045	PTN3_HUMAN	protein tyrosine phosphatase, non-receptor type 3	643	PDZ.				negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle	cytoplasm|cytoskeleton|internal side of plasma membrane	ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						GCACCGTCCCGCTTTCGAGGC	0.572													48	73					0	0	1	0	0	A	112166752	G	A	112166752	2	1	309	1	0	0	0	0	0	0	0	1	12841	1078	38	1		1	PTPN3	9	112166752	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	16427773	112166752	29046679	280	29562											
C9orf152	401546	broad.mit.edu	37	9	112963591	112963591	+	Silent	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr9:112963591C>T	ENST00000400613.4	-	2	966	c.357G>A	c.(355-357)acG>acA	p.T119T	C9orf152_ENST00000473442.1_Intron	NM_001012993.2	NP_001013011.2	Q5JTZ5	CI152_HUMAN	chromosome 9 open reading frame 152	119										NS(1)|endometrium(1)|large_intestine(1)|lung(1)|skin(1)|stomach(1)	6						TCTCCAGGTGCGTGTGCCATG	0.587													22	142					0	0	1	0	0	T	112963591	C	T	112963591	2	4	309	1	0	0	0	0	0	0	0	1	2481	755	27	1		1	C9orf152	9	112963591	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	796839	112963591	28249840	281	29563											
RGS3	5998	broad.mit.edu	37	9	116246504	116246506	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr9:116246504_116246506delCTT	ENST00000374140.2	+	7	821_823	c.612_614delCTT	c.(610-615)cacttc>cac	p.F207del	RGS3_ENST00000317613.6_In_Frame_Del_p.F95del|RGS3_ENST00000350696.5_In_Frame_Del_p.F207del	NM_001282923.1|NM_144488.4	NP_001269852.1|NP_652759.3	P49796	RGS3_HUMAN	regulator of G-protein signaling 3	207	C2.				inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	cytosol|nucleus|plasma membrane	GTPase activator activity|signal transducer activity			cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						TCCACGAGCACTTCTTCTTGTAA	0.473													38	77	---	---	---	---						-	116246506	CTT	-	116246504	7	5	309	1	0	1	0	1	0	0	0	0	13356	564	20	0	717	0	RGS3	9	116246504	In_Frame_Del	DEL	CTT	TCGA-HT-8564-01A-11D-2395-08	3282913	116246504	24966927	282	29564											
ZNF618	114991	broad.mit.edu	37	9	116811427	116811427	+	Silent	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr9:116811427C>T	ENST00000288466.7	+	14	1665	c.1566C>T	c.(1564-1566)taC>taT	p.Y522Y	ZNF618_ENST00000470105.1_3'UTR|ZNF618_ENST00000374126.5_Silent_p.Y615Y	NM_133374.2	NP_588615.2	Q5T7W0	ZN618_HUMAN	zinc finger protein 618	615					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|lung(10)|urinary_tract(1)	16						GGACAGTGTACGTGACGGATT	0.612													27	195					0	0	1	0	0	T	116811427	C	T	116811427	2	4	309	1	0	0	0	0	0	0	0	1	18099	547	19	1		1	ZNF618	9	116811427	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	564923	116811427	24402004	283	29565											
PAPPA	5069	broad.mit.edu	37	9	119097282	119097282	+	Silent	SNP	C	C	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr9:119097282C>A	ENST00000328252.3	+	13	3909	c.3540C>A	c.(3538-3540)tcC>tcA	p.S1180S	PAPPA_ENST00000534838.1_Silent_p.S218S	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	1180					cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						CCCTCCGTTCCTTCGACAACT	0.642													62	119					4.46356e-37	4.60688e-37	1	1	0	A	119097282	C	A	119097282	2	1	309	1	0	0	0	0	0	0	0	1	11479	668	24	4		4	PAPPA	9	119097282	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	2285855	119097282	22116149	284	29566											
TLR4	7099	broad.mit.edu	37	9	120476694	120476694	+	Missense_Mutation	SNP	G	G	A	rs5030723	byFrequency	TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr9:120476694G>A	ENST00000355622.6	+	3	2389	c.2288G>A	c.(2287-2289)cGt>cAt	p.R763H	TLR4_ENST00000394487.4_Missense_Mutation_p.R723H|TLR4_ENST00000472304.1_3'UTR	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	763	TIR.		R -> H (in dbSNP:rs5030723).		activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						CTGAGCAGTCGTGCTGGTATC	0.527													5	94					0	0	1	0	0	A	120476694	G	A	120476694	3	1	309	1	0	0	0	0	1	0	0	0	16013	1145	40	1	2298	1	TLR4	9	120476694	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	1379412	120476694	20736737	285	29567											
CDK5RAP2	55755	broad.mit.edu	37	9	123215886	123215886	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr9:123215886C>T	ENST00000349780.4	-	21	2820	c.2641G>A	c.(2641-2643)Gac>Aac	p.D881N	CDK5RAP2_ENST00000359309.3_Missense_Mutation_p.D881N|CDK5RAP2_ENST00000360190.4_Missense_Mutation_p.D881N|CDK5RAP2_ENST00000360822.3_Missense_Mutation_p.D849N	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	881					brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding			breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						CTCAGCAGGTCGCCCTCCGTG	0.552													101	158					0	0	1	0	0	T	123215886	C	T	123215886	3	4	309	1	0	0	0	0	1	0	0	0	3168	884	31	1	3112	1	CDK5RAP2	9	123215886	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	2739192	123215886	17997545	286	29568											
CDK5RAP2	55755	broad.mit.edu	37	9	123253597	123253597	+	Silent	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr9:123253597G>A	ENST00000349780.4	-	13	1649	c.1470C>T	c.(1468-1470)gaC>gaT	p.D490D	CDK5RAP2_ENST00000359309.3_Silent_p.D490D|CDK5RAP2_ENST00000360190.4_Silent_p.D490D|CDK5RAP2_ENST00000360822.3_Silent_p.D490D	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	490					brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding			breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						GAAGCAACACGTCCTTCTGAT	0.294													17	30					0	0	1	0	0	A	123253597	G	A	123253597	2	1	309	1	0	0	0	0	0	0	0	1	3168	1136	40	1		1	CDK5RAP2	9	123253597	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	37711	123253597	17959834	287	29569											
PHF19	26147	broad.mit.edu	37	9	123624994	123624996	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr9:123624994_123624996delCTT	ENST00000373896.3	-	11	1252_1254	c.1000_1002delAAG	c.(1000-1002)aagdel	p.K334del	PHF19_ENST00000487555.1_5'UTR|PHF19_ENST00000419155.1_In_Frame_Del_p.K125del	NM_015651.1	NP_056466.1	Q5T6S3	PHF19_HUMAN	PHD finger protein 19	334					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			NS(2)|breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GGAAGATGCACTTCTTCTTCTTG	0.606													64	374	---	---	---	---						-	123624996	CTT	-	123624994	7	5	309	1	0	1	0	1	0	0	0	0	11877	564	20	0	760	0	PHF19	9	123624994	In_Frame_Del	DEL	CTT	TCGA-HT-8564-01A-11D-2395-08	371397	123624994	17588437	288	29570											
OR5C1	392391	broad.mit.edu	37	9	125551233	125551233	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr9:125551233C>T	ENST00000373680.2	+	1	84	c.22C>T	c.(22-24)Cgg>Tgg	p.R8W		NM_001001923.1	NP_001001923.1	Q8NGR4	OR5C1_HUMAN	olfactory receptor, family 5, subfamily C, member 1	8					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(5)|skin(1)	20						GAACCTCACCCGGGCCGCGGT	0.582													30	139					0	0	1	0	0	T	125551233	C	T	125551233	3	4	309	1	0	0	0	0	1	0	0	0	11200	643	23	1	24	1	OR5C1	9	125551233	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	1926239	125551233	15662198	289	29571											
CRB2	286204	broad.mit.edu	37	9	126128637	126128637	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr9:126128637G>T	ENST00000373631.3	+	4	747	c.746G>T	c.(745-747)tGt>tTt	p.C249F	CRB2_ENST00000359999.3_Missense_Mutation_p.C249F	NM_173689.5	NP_775960.4	Q5IJ48	CRUM2_HUMAN	crumbs homolog 2 (Drosophila)	249	EGF-like 5.					extracellular region|integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						CGCTGCCTCTGTTGGCCAGGT	0.736													13	23					4.7546e-09	4.84797e-09	1	1	0	T	126128637	G	T	126128637	3	4	309	1	0	0	0	0	1	0	0	0	3872	1377	48	5	760	5	CRB2	9	126128637	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	577404	126128637	15084794	290	29572											
SH2D3C	10044	broad.mit.edu	37	9	130511902	130511902	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr9:130511902G>A	ENST00000314830.8	-	5	840	c.727C>T	c.(727-729)Cgg>Tgg	p.R243W	SH2D3C_ENST00000373277.4_Missense_Mutation_p.R86W|SH2D3C_ENST00000429553.1_5'UTR|SH2D3C_ENST00000471939.1_Intron|SH2D3C_ENST00000373276.3_Missense_Mutation_p.R175W|SH2D3C_ENST00000373274.3_Missense_Mutation_p.R83W|SH2D3C_ENST00000420366.1_Missense_Mutation_p.R85W	NM_170600.2	NP_733745.1	Q8N5H7	SH2D3_HUMAN	SH2 domain containing 3C	243	SH2.				JNK cascade|small GTPase mediated signal transduction	cytoplasm|membrane	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						AGTGAGTCCCGGATGAGGAAG	0.612													6	15					0	0	1	0	0	A	130511902	G	A	130511902	3	1	309	1	0	0	0	0	1	0	0	0	14288	1115	39	1	1887	1	SH2D3C	9	130511902	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	4383265	130511902	10701529	291	29573											
TRUB2	26995	broad.mit.edu	37	9	131072049	131072049	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr9:131072049C>T	ENST00000372890.4	-	8	1109	c.776G>A	c.(775-777)cGc>cAc	p.R259H	TRUB2_ENST00000546104.1_Missense_Mutation_p.R203H|TRUB2_ENST00000460320.1_5'UTR	NM_015679.1	NP_056494.1	O95900	TRUB2_HUMAN	TruB pseudouridine (psi) synthase family member 2	259					pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding			kidney(2)|large_intestine(2)|lung(3)|ovary(1)	8						GAAGCCGTCGCGCGTGCGCCG	0.582													27	54					0	0	1	0	0	T	131072049	C	T	131072049	3	4	309	1	0	0	0	0	1	0	0	0	16664	768	27	1	223	1	TRUB2	9	131072049	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	560147	131072049	10141382	292	29574											
SPTAN1	6709	broad.mit.edu	37	9	131388869	131388869	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr9:131388869G>A	ENST00000372739.3	+	49	6589	c.6479G>A	c.(6478-6480)cGc>cAc	p.R2160H	SPTAN1_ENST00000372731.4_Missense_Mutation_p.R2155H|SPTAN1_ENST00000358161.5_Missense_Mutation_p.R2160H	NM_001130438.2	NP_001123910.1	Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	2155					actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						GAGCTGGACCGCCAGATCAAG	0.582													14	62					0	0	1	0	0	A	131388869	G	A	131388869	3	1	309	1	0	0	0	0	1	0	0	0	15173	1087	38	1	6669	1	SPTAN1	9	131388869	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	316820	131388869	9824562	293	29575											
USP20	10868	broad.mit.edu	37	9	132631191	132631191	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr9:132631191G>A	ENST00000315480.4	+	12	1344	c.1186G>A	c.(1186-1188)Gtc>Atc	p.V396I	USP20_ENST00000358355.1_Missense_Mutation_p.V396I|USP20_ENST00000372429.3_Missense_Mutation_p.V396I			Q9Y2K6	UBP20_HUMAN	ubiquitin specific peptidase 20	396					endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|ubiquitin thiolesterase activity|zinc ion binding			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|urinary_tract(1)	11		Ovarian(14;0.00556)				CTGCAGCCCCGTCCACCACCA	0.672													15	96					0	0	1	0	0	A	132631191	G	A	132631191	3	1	309	1	0	0	0	0	1	0	0	0	17112	1145	40	1	1224	1	USP20	9	132631191	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	1242322	132631191	8582240	294	29576											
FIBCD1	84929	broad.mit.edu	37	9	133780652	133780652	+	Silent	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr9:133780652C>T	ENST00000372338.4	-	6	1337	c.1095G>A	c.(1093-1095)ccG>ccA	p.P365P	FIBCD1_ENST00000448616.1_Silent_p.P365P|FIBCD1_ENST00000253018.4_Intron|FIBCD1_ENST00000372337.2_Silent_p.P207P	NM_032843.4	NP_116232.3	Q8N539	FBCD1_HUMAN	fibrinogen C domain containing 1	365	Fibrinogen C-terminal.				signal transduction	extracellular space|integral to membrane	chitin binding|metal ion binding|receptor binding			kidney(1)|large_intestine(3)|lung(2)|prostate(5)|urinary_tract(1)	12	all_hematologic(7;0.0028)			OV - Ovarian serous cystadenocarcinoma(145;3.52e-05)|Epithelial(140;0.00019)		CCACGGTGAGCGGGTACCCGT	0.657													15	46					0	0	1	0	0	T	133780652	C	T	133780652	2	4	309	1	0	0	0	0	0	0	0	1	5917	755	27	1		1	FIBCD1	9	133780652	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	1149461	133780652	7432779	295	29577											
BRD3	8019	broad.mit.edu	37	9	136910513	136910513	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr9:136910513C>T	ENST00000303407.7	-	7	1302	c.1117G>A	c.(1117-1119)Gca>Aca	p.A373T	BRD3_ENST00000357885.2_Missense_Mutation_p.A373T|BRD3_ENST00000371834.2_Missense_Mutation_p.A373T	NM_007371.3	NP_031397.1	Q15059	BRD3_HUMAN	bromodomain containing 3	373	Bromo 2.					nucleus	protein binding	p.A373T(2)	BRD3/C15orf55(3)	kidney(1)|skin(1)|stomach(4)	6				OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07)		AAGCCCTGTGCGTCTGGGTAC	0.592			T	C15orf55	lethal midline carcinoma of young people								38	230					0	0	1	0	0	T	136910513	C	T	136910513	3	4	309	1	0	0	0	0	1	0	0	0	1505	768	27	1	1087	1	BRD3	9	136910513	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	3129861	136910513	4302918	296	29578											
NOTCH1	4851	broad.mit.edu	37	9	139401406	139401406	+	Silent	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr9:139401406G>A	ENST00000277541.6	-	23	3738	c.3663C>T	c.(3661-3663)aaC>aaT	p.N1221N		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1221	EGF-like 32; calcium-binding (Potential).				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		AGTCGTCCACGTTGATCTCAC	0.672			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			14	24					0	0	1	0	0	A	139401406	G	A	139401406	2	1	309	1	0	0	0	0	0	0	0	1	10594	1136	40	1		1	NOTCH1	9	139401406	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	2490893	139401406	1812025	297	29579											
CLIC3	9022	broad.mit.edu	37	9	139889178	139889178	+	Silent	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr9:139889178G>A	ENST00000494426.1	-	6	925	c.666C>T	c.(664-666)agC>agT	p.S222S	CLIC3_ENST00000480181.1_5'UTR	NM_004669.2	NP_004660.2	O95833	CLIC3_HUMAN	chloride intracellular channel 3	222	GST C-terminal.				signal transduction	chloride channel complex|cytoplasm|nucleus	protein binding|voltage-gated chloride channel activity			lung(1)|skin(1)	2	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		GGATCTCGGCGCTGTGCGGAC	0.677													21	24					0	0	1	0	0	A	139889178	G	A	139889178	2	1	309	1	0	0	0	0	0	0	0	1	3550	1078	38	1		1	CLIC3	9	139889178	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	487772	139889178	1324253	298	29580											
EHMT1	79813	broad.mit.edu	37	9	140706066	140706066	+	Splice_Site	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr9:140706066G>A	ENST00000460843.1	+	19	2893	c.2866G>A	c.(2866-2868)Gtc>Atc	p.V956I		NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	956					DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		CGACTGTGTCGTGTGAGTGCA	0.642													41	50					0	0	1	0	0	A	140706066	G	A	140706066	5	1	309	1	0	0	0	0	0	0	1	0	5009	1159	40	1	2989	1	EHMT1	9	140706066	Splice_Site	SNP	G	TCGA-HT-8564-01A-11D-2395-08	816888	140706066	507365	299	29581											
TAF3	83860	broad.mit.edu	37	10	8007427	8007427	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr10:8007427delC	ENST00000344293.5	+	3	2160	c.1954delC	c.(1954-1956)cccfs	p.P653fs		NM_031923.3	NP_114129.1	Q5VWG9	TAF3_HUMAN	TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa	653	Lys-rich.				maintenance of protein location in nucleus|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	transcription factor TFIID complex	protein binding|zinc ion binding			NS(2)|breast(4)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(3)|prostate(4)|skin(2)	40						AGCCCCAGCACCCCCACTGGT	0.488													61	85	---	---	---	---						-	8007427	C	-	8007427	7	5	309	1	0	1	0	1	0	0	0	0	15582	507	18	0	1964	0	TAF3	10	8007427	Frame_Shift_Del	DEL	C	TCGA-HT-8564-01A-11D-2395-08		8007427	127527320	300	29582											
DHTKD1	55526	broad.mit.edu	37	10	12142226	12142226	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr10:12142226C>T	ENST00000263035.4	+	9	1783	c.1721C>T	c.(1720-1722)gCg>gTg	p.A574V		NM_018706.5	NP_061176	Q96HY7	DHTK1_HUMAN	dehydrogenase E1 and transketolase domain containing 1	574					glycolysis	mitochondrion	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1)	44		Renal(717;0.228)	BRCA - Breast invasive adenocarcinoma(52;0.188)			TGGGCCACCGCGGAAGCTCTT	0.423													47	173					0	0	1	0	0	T	12142226	C	T	12142226	3	4	309	1	0	0	0	0	1	0	0	0	4528	768	27	1	1755	1	DHTKD1	10	12142226	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	4134799	12142226	123392521	301	29583											
MKX	283078	broad.mit.edu	37	10	28023587	28023587	+	Silent	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr10:28023587G>A	ENST00000375790.5	-	5	1068	c.636C>T	c.(634-636)taC>taT	p.Y212Y	MKX_ENST00000419761.1_Silent_p.Y212Y			Q8IYA7	MKX_HUMAN	mohawk homeobox	212					muscle organ development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2)	16						GGGGTGCCACGTAGTCCTCAC	0.488													88	59					0	0	1	0	0	A	28023587	G	A	28023587	2	1	309	1	0	0	0	0	0	0	0	1	9658	1140	40	1		1	MKX	10	28023587	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	15881361	28023587	107511160	302	29584											
SVIL	6840	broad.mit.edu	37	10	29760116	29760116	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr10:29760116delC	ENST00000375398.2	-	33	6035	c.5586delG	c.(5584-5586)gggfs	p.G1862fs	PTCHD3P1_ENST00000423223.1_RNA|SVIL_ENST00000355867.4_Frame_Shift_Del_p.G1862fs|SVIL_ENST00000375400.3_Frame_Shift_Del_p.G1436fs|PTCHD3P1_ENST00000414457.1_RNA|PTCHD3P1_ENST00000413405.1_RNA|PTCHD3P1_ENST00000446807.1_RNA|SVIL_ENST00000535393.1_Frame_Shift_Del_p.G776fs			O95425	SVIL_HUMAN	supervillin	1862					cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				GCACCACCATCCCCCCCTGGA	0.527													16	21	---	---	---	---						-	29760116	C	-	29760116	7	5	309	1	0	1	0	1	0	0	0	0	15477	842	30	0	1090	0	SVIL	10	29760116	Frame_Shift_Del	DEL	C	TCGA-HT-8564-01A-11D-2395-08	1736529	29760116	105774631	303	29585											
SVIL	6840	broad.mit.edu	37	10	29822002	29822004	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr10:29822002_29822004delCTT	ENST00000375398.2	-	10	1741_1743	c.1292_1294delAAG	c.(1291-1296)gaaggg>ggg	p.E431del	SVIL_ENST00000355867.4_In_Frame_Del_p.E431del|SVIL_ENST00000375400.3_Intron			O95425	SVIL_HUMAN	supervillin	431					cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				tctccttccccttcttcttcttc	0.498													12	48	---	---	---	---						-	29822004	CTT	-	29822002	7	5	309	1	0	1	0	1	0	0	0	0	15477	681	24	0	5474	0	SVIL	10	29822002	In_Frame_Del	DEL	CTT	TCGA-HT-8564-01A-11D-2395-08	61886	29822002	105712745	304	29586											
ARHGAP22	58504	broad.mit.edu	37	10	49687793	49687793	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr10:49687793G>A	ENST00000249601.4	-	4	633	c.337C>T	c.(337-339)Cgg>Tgg	p.R113W	ARHGAP22_ENST00000374170.1_Missense_Mutation_p.R23W|ARHGAP22_ENST00000417912.2_Missense_Mutation_p.R113W|ARHGAP22_ENST00000417247.2_Missense_Mutation_p.R23W|ARHGAP22_ENST00000374172.1_5'UTR|ARHGAP22_ENST00000435790.2_Missense_Mutation_p.R119W	NM_001256024.1|NM_021226.3	NP_001242953.1|NP_067049.2	Q7Z5H3	RHG22_HUMAN	Rho GTPase activating protein 22	113	PH.				angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol|nucleus	GTPase activator activity			endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						ACCTTCTCCCGCTCCCCGGCA	0.672													9	20					0	0	1	0	0	A	49687793	G	A	49687793	3	1	309	1	0	0	0	0	1	0	0	0	869	1086	38	1	1787	1	ARHGAP22	10	49687793	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	19865791	49687793	85846954	305	29587											
STOX1	219736	broad.mit.edu	37	10	70645798	70645798	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr10:70645798G>A	ENST00000298596.6	+	3	2329	c.2246G>A	c.(2245-2247)cGt>cAt	p.R749H	STOX1_ENST00000421961.2_Missense_Mutation_p.R639H|STOX1_ENST00000399165.4_Intron|STOX1_ENST00000399169.4_Missense_Mutation_p.R749H|STOX1_ENST00000399162.2_Intron	NM_152709.4	NP_689922.3	Q6ZVD7	STOX1_HUMAN	storkhead box 1	749						cytoplasm|nucleolus	DNA binding			breast(5)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|prostate(1)|skin(3)	28						GACGACTTACGTCAAATGCTG	0.438													28	78					0	0	1	0	0	A	70645798	G	A	70645798	3	1	309	1	0	0	0	0	1	0	0	0	15375	1145	40	1	2256	1	STOX1	10	70645798	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	20958005	70645798	64888949	306	29588											
TSPAN15	23555	broad.mit.edu	37	10	71258152	71258152	+	Splice_Site	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr10:71258152G>A	ENST00000373290.2	+	5	692	c.570G>A	c.(568-570)acG>acA	p.T190T	TSPAN15_ENST00000459981.1_3'UTR	NM_012339.3	NP_036471.1	O95858	TSN15_HUMAN	tetraspanin 15	190						integral to plasma membrane|membrane fraction				breast(1)|endometrium(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)	9						TCAGGAACACGGTAGACACTG	0.587													29	43					0	0	1	0	0	A	71258152	G	A	71258152	5	1	309	1	0	0	0	0	0	0	1	0	16700	1130	39	1	588	1	TSPAN15	10	71258152	Splice_Site	SNP	G	TCGA-HT-8564-01A-11D-2395-08	612354	71258152	64276595	307	29589											
CDH23	64072	broad.mit.edu	37	10	73461953	73461953	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr10:73461953G>A	ENST00000224721.6	+	22	2592	c.2587G>A	c.(2587-2589)Gtc>Atc	p.V863I	CDH23_ENST00000299366.7_Missense_Mutation_p.V903I	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	858	Cadherin 8.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						CAAAATCGTCGTCTCTGTTAC	0.657													40	178					0	0	1	0	0	A	73461953	G	A	73461953	3	1	309	1	0	0	0	0	1	0	0	0	3130	1145	40	1	2885	1	CDH23	10	73461953	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	2203801	73461953	62072794	308	29590											
ZMIZ1	57178	broad.mit.edu	37	10	80968196	80968196	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr10:80968196G>A	ENST00000334512.5	+	6	736	c.164G>A	c.(163-165)gGc>gAc	p.G55D		NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	55					transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			AGCCTGATGGGCTGTTTGACG	0.607													4	71					0	0	1	0	0	A	80968196	G	A	80968196	3	1	309	1	0	0	0	0	1	0	0	0	17754	1203	42	2	170	2	ZMIZ1	10	80968196	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	7506243	80968196	54566551	309	29591											
MYOF	26509	broad.mit.edu	37	10	95095762	95095762	+	Silent	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr10:95095762G>A	ENST00000371501.4	-	41	4601	c.4479C>T	c.(4477-4479)ggC>ggT	p.G1493G	MYOF_ENST00000358334.5_Silent_p.G1480G|MYOF_ENST00000371502.4_Silent_p.G1512G|MYOF_ENST00000359263.4_Silent_p.G1493G			Q9NZM1	MYOF_HUMAN	myoferlin	1493					blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						AGTCTGTCAGGCCCTCAAATT	0.383													7	148					0	0	1	0	0	A	95095762	G	A	95095762	2	1	309	1	0	0	0	0	0	0	0	1	10137	1190	42	2		2	MYOF	10	95095762	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	14127566	95095762	40438985	310	29592											
CYP2C18	1562	broad.mit.edu	37	10	96480238	96480238	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr10:96480238C>T	ENST00000285979.6	+	6	1104	c.905C>T	c.(904-906)aCg>aTg	p.T302M	CYP2C18_ENST00000339022.5_Missense_Mutation_p.T243M|CYP2C19_ENST00000464755.1_3'UTR	NM_000772.2	NP_000763.1			cytochrome P450, family 2, subfamily C, polypeptide 18											NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	26		Colorectal(252;0.09)		all cancers(201;2.8e-06)|KIRC - Kidney renal clear cell carcinoma(50;0.0646)|Kidney(138;0.0805)		ACAGAGACAACGAGCACCACT	0.423													19	78					0	0	1	0	0	T	96480238	C	T	96480238	3	4	309	1	0	0	0	0	1	0	0	0	4188	536	19	1	927	1	CYP2C18	10	96480238	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	1384476	96480238	39054509	311	29593											
DNTT	1791	broad.mit.edu	37	10	98064310	98064310	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr10:98064310C>T	ENST00000419175.1	+	1	226	c.56C>T	c.(55-57)aCg>aTg	p.T19M	RP11-35J23.1_ENST00000454484.2_RNA|DNTT_ENST00000371174.2_Missense_Mutation_p.T19M	NM_001017520.1|NM_004088.3	NP_001017520.1|NP_004079.3	P04053	TDT_HUMAN	DNA nucleotidylexotransferase	19					DNA modification	nucleus	DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding	p.T19M(1)		NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	27		Colorectal(252;0.0815)|all_hematologic(284;0.224)		Epithelial(162;7.97e-08)|all cancers(201;1.89e-06)		CCCCGGCAGACGGGTGCCTTG	0.567													21	84					0	0	1	0	0	T	98064310	C	T	98064310	3	4	309	1	0	0	0	0	1	0	0	0	4707	536	19	1	58	1	DNTT	10	98064310	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	1584072	98064310	37470437	312	29594											
CRTAC1	55118	broad.mit.edu	37	10	99696063	99696063	+	Silent	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr10:99696063G>A	ENST00000370597.3	-	3	640	c.285C>T	c.(283-285)atC>atT	p.I95I	CRTAC1_ENST00000370591.2_Silent_p.I95I|CRTAC1_ENST00000298819.4_Silent_p.I95I	NM_018058.6	NP_060528.3	Q9NQ79	CRAC1_HUMAN	cartilage acidic protein 1	95						proteinaceous extracellular matrix	calcium ion binding			autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(6)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	35		Colorectal(252;0.24)		Epithelial(162;2.18e-10)|all cancers(201;3.27e-09)		CATCGACCGCGATGTTCACCA	0.667													31	40					0	0	1	0	0	A	99696063	G	A	99696063	2	1	309	1	0	0	0	0	0	0	0	1	3919	1048	37	1		1	CRTAC1	10	99696063	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	1631753	99696063	35838684	313	29595											
GBF1	8729	broad.mit.edu	37	10	104141973	104141973	+	Silent	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr10:104141973C>T	ENST00000369983.3	+	40	5720	c.5460C>T	c.(5458-5460)ggC>ggT	p.G1820G		NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN	golgi brefeldin A resistant guanine nucleotide exchange factor 1	1820	Pro-rich.				COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		TGCAGGTGGGCGTGCCACCTA	0.682													50	158					0	0	1	0	0	T	104141973	C	T	104141973	2	4	309	1	0	0	0	0	0	0	0	1	6311	755	27	1		1	GBF1	10	104141973	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	4445910	104141973	31392774	314	29596											
PDCD11	22984	broad.mit.edu	37	10	105184818	105184818	+	Silent	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr10:105184818G>A	ENST00000369797.3	+	20	2935	c.2841G>A	c.(2839-2841)acG>acA	p.T947T	PDCD11_ENST00000490787.1_3'UTR	NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	947					mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		TGGTAGAGACGGGCCACCTGG	0.547													25	102					0	0	1	0	0	A	105184818	G	A	105184818	2	1	309	1	0	0	0	0	0	0	0	1	11664	1103	39	1		1	PDCD11	10	105184818	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	1042845	105184818	30349929	315	29597											
CALHM2	51063	broad.mit.edu	37	10	105209166	105209166	+	Missense_Mutation	SNP	C	C	T	rs139579411		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr10:105209166C>T	ENST00000393235.1	-	3	1730	c.533G>A	c.(532-534)cGc>cAc	p.R178H	CALHM2_ENST00000369788.3_Missense_Mutation_p.R178H|CALHM2_ENST00000260743.5_Missense_Mutation_p.R178H			Q9HA72	CAHM2_HUMAN	calcium homeostasis modulator 2	178						integral to membrane				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)|skin(1)	11						CCTGAGCCTGCGGCTGACCTC	0.592													33	123					0	0	1	0	0	T	105209166	C	T	105209166	3	4	309	1	0	0	0	0	1	0	0	0	2601	768	27	1	446	1	CALHM2	10	105209166	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	24348	105209166	30325581	316	29598											
SLK	9748	broad.mit.edu	37	10	105727509	105727511	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr10:105727509_105727511delCTT	ENST00000369755.3	+	1	551_553	c.6_8delCTT	c.(4-9)tccttc>tcc	p.F4del	SLK_ENST00000335753.4_In_Frame_Del_p.F4del	NM_014720.2	NP_055535.2	Q9H2G2	SLK_HUMAN	STE20-like kinase	4					apoptosis|nucleotide-excision repair	cytoplasm|plasma membrane	ATP binding|DNA binding|nuclease activity|protein serine/threonine kinase activity			kidney(1)|lung(1)|ovary(2)|skin(2)|stomach(2)	8		Colorectal(252;0.178)		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		GAAAAATGTCCTTCTTCAATTTC	0.483													41	157	---	---	---	---						-	105727511	CTT	-	105727509	7	5	309	1	0	1	0	1	0	0	0	0	14802	668	24	0	8	0	SLK	10	105727509	In_Frame_Del	DEL	CTT	TCGA-HT-8564-01A-11D-2395-08	518343	105727509	29807238	317	29599											
EIF3A	8661	broad.mit.edu	37	10	120796752	120796752	+	Silent	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr10:120796752G>A	ENST00000369144.3	-	21	3925	c.3798C>T	c.(3796-3798)gaC>gaT	p.D1266D	EIF3A_ENST00000541549.1_Silent_p.D1232D	NM_003750.2	NP_003741.1	Q14152	EIF3A_HUMAN	eukaryotic translation initiation factor 3, subunit A	1266	Asp-rich.				formation of translation initiation complex	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|structural molecule activity|translation initiation factor activity			endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3)	56		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0236)		TATCCCTATCGTCCCGGCGAC	0.547													36	136					0	0	1	0	0	A	120796752	G	A	120796752	2	1	309	1	0	0	0	0	0	0	0	1	5038	1136	40	1		1	EIF3A	10	120796752	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	15069243	120796752	14737995	318	29600											
GPR26	2849	broad.mit.edu	37	10	125426287	125426287	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr10:125426287G>A	ENST00000284674.1	+	1	417	c.364G>A	c.(364-366)Gac>Aac	p.D122N		NM_153442.3	NP_703143.1	Q8NDV2	GPR26_HUMAN	G protein-coupled receptor 26	122					activation of adenylate cyclase activity by G-protein signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	20		Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)				GCGCCTCCGCGACGCGGCGCT	0.701													8	16					0	0	1	0	0	A	125426287	G	A	125426287	3	1	309	1	0	0	0	0	1	0	0	0	6724	1058	37	1	366	1	GPR26	10	125426287	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	4629535	125426287	10108460	319	29601											
GPR26	2849	broad.mit.edu	37	10	125426409	125426409	+	Silent	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr10:125426409G>A	ENST00000284674.1	+	1	539	c.486G>A	c.(484-486)cgG>cgA	p.R162R		NM_153442.3	NP_703143.1	Q8NDV2	GPR26_HUMAN	G protein-coupled receptor 26	162					activation of adenylate cyclase activity by G-protein signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	20		Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)				GCAGCCGGCGGCCAGACGAGC	0.682													19	20					0	0	1	0	0	A	125426409	G	A	125426409	2	1	309	1	0	0	0	0	0	0	0	1	6724	1190	42	2		2	GPR26	10	125426409	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	122	125426409	10108338	320	29602											
CHST15	51363	broad.mit.edu	37	10	125804256	125804256	+	Silent	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr10:125804256G>A	ENST00000346248.5	-	3	1368	c.726C>T	c.(724-726)caC>caT	p.H242H	CHST15_ENST00000421115.1_Silent_p.H242H|CHST15_ENST00000435907.1_Silent_p.H242H	NM_015892.4	NP_056976.2	Q7LFX5	CHSTF_HUMAN	carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15	242					hexose biosynthetic process	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity			endometrium(4)|kidney(1)|large_intestine(11)|lung(6)|ovary(3)|stomach(1)	26						TCCCGTGCGCGTGCGCCAGGT	0.662													15	25					0	0	1	0	0	A	125804256	G	A	125804256	2	1	309	1	0	0	0	0	0	0	0	1	3425	1136	40	1		1	CHST15	10	125804256	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	377847	125804256	9730491	321	29603											
PWWP2B	170394	broad.mit.edu	37	10	134218375	134218375	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr10:134218375delC	ENST00000305233.5	+	2	430	c.371delC	c.(370-372)gccfs	p.A124fs	PWWP2B_ENST00000368609.4_Frame_Shift_Del_p.A124fs	NM_138499.3	NP_612508.3	Q6NUJ5	PWP2B_HUMAN	PWWP domain containing 2B	124	Pro-rich.									central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|urinary_tract(1)	9		all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224)		OV - Ovarian serous cystadenocarcinoma(35;7.49e-05)|Epithelial(32;0.00016)|all cancers(32;0.000186)		TTCGAAGGCGCCCCCTTCCCT	0.751													11	29	---	---	---	---						-	134218375	C	-	134218375	7	5	309	1	0	1	0	1	0	0	0	0	12898	739	26	0	377	0	PWWP2B	10	134218375	Frame_Shift_Del	DEL	C	TCGA-HT-8564-01A-11D-2395-08	8414119	134218375	1316372	322	29604											
TUBGCP2	10844	broad.mit.edu	37	10	135101799	135101799	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr10:135101799T>C	ENST00000368563.2	-	11	1912	c.1556A>G	c.(1555-1557)tAc>tGc	p.Y519C	TUBGCP2_ENST00000543663.1_Missense_Mutation_p.Y547C|TUBGCP2_ENST00000252936.3_Missense_Mutation_p.Y519C|TUBGCP2_ENST00000368562.1_Missense_Mutation_p.Y112C|TUBGCP2_ENST00000417178.2_Missense_Mutation_p.Y389C	NM_001256617.1|NM_006659.3	NP_001243546.1|NP_006650.1	Q9BSJ2	GCP2_HUMAN	tubulin, gamma complex associated protein 2	519					G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly	centrosome|cytoplasmic microtubule|cytosol|spindle pole	protein binding			breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	35		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.87e-06)|all cancers(32;8.98e-06)|Epithelial(32;1.15e-05)		CATGAGGAAGTAGCGCTTGAT	0.682													15	53					0	0	1	0	0	C	135101799	T	C	135101799	3	2	309	1	0	0	0	0	1	0	0	0	16828	1638	57	3	1184	3	TUBGCP2	10	135101799	Missense_Mutation	SNP	T	TCGA-HT-8564-01A-11D-2395-08	883424	135101799	432948	323	29605											
TUBGCP2	10844	broad.mit.edu	37	10	135103416	135103418	+	In_Frame_Del	DEL	GTT	GTT	-	rs141945979	byFrequency	TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr10:135103416_135103418delGTT	ENST00000368563.2	-	9	1626_1628	c.1270_1272delAAC	c.(1270-1272)aacdel	p.N424del	TUBGCP2_ENST00000417178.2_In_Frame_Del_p.N294del|TUBGCP2_ENST00000368562.1_In_Frame_Del_p.N17del|TUBGCP2_ENST00000252936.3_In_Frame_Del_p.N424del|TUBGCP2_ENST00000543663.1_In_Frame_Del_p.N452del	NM_001256617.1|NM_006659.3	NP_001243546.1|NP_006650.1	Q9BSJ2	GCP2_HUMAN	tubulin, gamma complex associated protein 2	424					G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly	centrosome|cytoplasmic microtubule|cytosol|spindle pole	protein binding			breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	35		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.87e-06)|all cancers(32;8.98e-06)|Epithelial(32;1.15e-05)		AGTACTTGTCGTTGTAATCCTCC	0.581													15	74	---	---	---	---						-	135103418	GTT	-	135103416	7	5	309	1	0	1	0	1	0	0	0	0	16828	1136	40	0	1476	0	TUBGCP2	10	135103416	In_Frame_Del	DEL	GTT	TCGA-HT-8564-01A-11D-2395-08	1617	135103416	431331	324	29606											
IFITM1	8519	broad.mit.edu	37	11	314210	314210	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:314210delC	ENST00000408968.3	+	1	358	c.40delC	c.(40-42)cccfs	p.P15fs	IFITM1_ENST00000328221.5_Frame_Shift_Del_p.P15fs|IFITM1_ENST00000528780.1_Frame_Shift_Del_p.P15fs	NM_003641.3	NP_003632	P13164	IFM1_HUMAN	interferon induced transmembrane protein 1	15					negative regulation of cell proliferation|regulation of immune response|response to virus|type I interferon-mediated signaling pathway	integral to membrane|plasma membrane	protein binding|receptor signaling protein activity			large_intestine(1)|lung(3)	4		all_cancers(49;2e-09)|all_epithelial(84;3.36e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;8.85e-28)|Epithelial(43;5.52e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122)		GCTGGGGCCACCCCCCAGCAC	0.562													22	136	---	---	---	---						-	314210	C	-	314210	7	5	309	1	0	1	0	1	0	0	0	0	7570	507	18	0	42	0	IFITM1	11	314210	Frame_Shift_Del	DEL	C	TCGA-HT-8564-01A-11D-2395-08		314210	134692306	325	29607											
DEAF1	10522	broad.mit.edu	37	11	654033	654033	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:654033C>T	ENST00000382409.3	-	11	2006	c.1522G>A	c.(1522-1524)Ggc>Agc	p.G508S	DEAF1_ENST00000525904.1_5'UTR|DEAF1_ENST00000338675.6_Missense_Mutation_p.G433S	NM_021008.2	NP_066288.2	O75398	DEAF1_HUMAN	DEAF1 transcription factor	508					embryonic skeletal system development|germ cell development|neural tube closure|regulation of mammary gland epithelial cell proliferation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|extracellular region|nucleus	protein binding|zinc ion binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;1.76e-27)|Epithelial(43;8.42e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.55e-21)|BRCA - Breast invasive adenocarcinoma(625;4.83e-05)|Lung(200;0.0259)|LUSC - Lung squamous cell carcinoma(625;0.075)		GCCTCCCGGCCGCAGTTAACG	0.622													12	53					0	0	1	0	0	T	654033	C	T	654033	3	4	309	1	0	0	0	0	1	0	0	0	4403	652	23	1	183	1	DEAF1	11	654033	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	339823	654033	134352483	326	29608											
MUC2	4583	broad.mit.edu	37	11	1080294	1080294	+	Silent	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:1080294C>T	ENST00000441003.2	+	8	1041	c.1014C>T	c.(1012-1014)gaC>gaT	p.D338D	MUC2_ENST00000359061.5_Silent_p.D338D	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	338	TIL.					inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	CCGTATATGACGACATCGGGG	0.647													5	18					0	0	1	0	0	T	1080294	C	T	1080294	2	4	309	1	0	0	0	0	0	0	0	1	10023	535	19	1		1	MUC2	11	1080294	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	426261	1080294	133926222	327	29609											
DUSP8	1850	broad.mit.edu	37	11	1578531	1578531	+	Silent	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:1578531C>T	ENST00000397374.3	-	7	1222	c.1095G>A	c.(1093-1095)ccG>ccA	p.P365P	DUSP8_ENST00000331588.4_Silent_p.P365P	NM_004420.2	NP_004411.2	Q13202	DUS8_HUMAN	dual specificity phosphatase 8	365	Pro-rich.|Tyrosine-protein phosphatase.				inactivation of MAPK activity	cytoplasm|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			endometrium(1)|lung(2)|prostate(1)|urinary_tract(1)	5		all_epithelial(84;0.000134)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000621)|Lung(200;0.0687)|LUSC - Lung squamous cell carcinoma(625;0.0825)		CGCTGGTcgccgggggcgtgg	0.731													6	4					0	0	1	0	0	T	1578531	C	T	1578531	2	4	309	1	0	0	0	0	0	0	0	1	4857	639	23	1		1	DUSP8	11	1578531	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	498237	1578531	133427985	328	29610											
TRPM5	29850	broad.mit.edu	37	11	2428525	2428525	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:2428525G>A	ENST00000452833.1	-	20	2956	c.2948C>T	c.(2947-2949)aCg>aTg	p.T983M	AC124057.5_ENST00000433035.1_RNA|TRPM5_ENST00000528453.1_Missense_Mutation_p.T981M|TRPM5_ENST00000533060.1_Missense_Mutation_p.T981M|TRPM5_ENST00000155858.6_Missense_Mutation_p.T981M			Q9NZQ8	TRPM5_HUMAN	transient receptor potential cation channel, subfamily M, member 5	981						integral to membrane|plasma membrane	receptor activity|voltage-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(4)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	23		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)		CACCTGGAACGTGTAGCTGCA	0.642													18	15					0	0	1	0	0	A	2428525	G	A	2428525	3	1	309	1	0	0	0	0	1	0	0	0	16650	1145	40	1	575	1	TRPM5	11	2428525	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	849994	2428525	132577991	329	29611											
OR51G1	79324	broad.mit.edu	37	11	4944910	4944910	+	Silent	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:4944910G>A	ENST00000321961.2	-	1	727	c.660C>T	c.(658-660)taC>taT	p.Y220Y	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001005237.1	NP_001005237.1	Q8NGK1	O51G1_HUMAN	olfactory receptor, family 51, subfamily G, member 1	220					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Y220*(1)		NS(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(4)|soft_tissue(1)	25		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		GGATGAGGGCGTATGAGAGAA	0.547													26	89					0	0	1	0	0	A	4944910	G	A	4944910	2	1	309	1	0	0	0	0	0	0	0	1	11146	1140	40	1		1	OR51G1	11	4944910	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	2516385	4944910	130061606	330	29612											
OR51B4	79339	broad.mit.edu	37	11	5322671	5322671	+	Missense_Mutation	SNP	C	C	T	rs115916434	by1000genomes	TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:5322671C>T	ENST00000380224.1	-	1	555	c.506G>A	c.(505-507)cGt>cAt	p.R169H	HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron	NM_033179.2	NP_149419.2	Q9Y5P0	O51B4_HUMAN	olfactory receptor, family 51, subfamily B, member 4	169					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	20		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAAGAGGGCACGGGAACCACA	0.423													52	70					0	0	1	0	0	T	5322671	C	T	5322671	3	4	309	1	0	0	0	0	1	0	0	0	11138	536	19	1	429	1	OR51B4	11	5322671	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	377761	5322671	129683845	331	29613											
ST5	6764	broad.mit.edu	37	11	8752647	8752647	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:8752647G>A	ENST00000534127.1	-	6	575	c.190C>T	c.(190-192)Cgg>Tgg	p.R64W	ST5_ENST00000530438.1_Intron|ST5_ENST00000526757.1_Intron|ST5_ENST00000313726.6_Missense_Mutation_p.R64W|ST5_ENST00000357665.1_Missense_Mutation_p.R64W	NM_005418.3	NP_005409.3	P78524	ST5_HUMAN	suppression of tumorigenicity 5	64	Pro-rich.				positive regulation of ERK1 and ERK2 cascade		protein binding			NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	39				Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)		AGGAGCACCCGGGAGCTGGAG	0.612													6	61					0	0	1	0	0	A	8752647	G	A	8752647	3	1	309	1	0	0	0	0	1	0	0	0	15276	1115	39	1	3295	1	ST5	11	8752647	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	3429976	8752647	126253869	332	29614											
ZNF143	7702	broad.mit.edu	37	11	9522711	9522711	+	Silent	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:9522711C>T	ENST00000396602.2	+	11	1160	c.1041C>T	c.(1039-1041)caC>caT	p.H347H	ZNF143_ENST00000396597.3_Silent_p.H316H|ZNF143_ENST00000299606.2_Silent_p.H319H|ZNF143_ENST00000530463.1_Silent_p.H346H|ZNF143_ENST00000396604.1_Silent_p.H346H	NM_001282656.1|NM_001282657.1|NM_003442.5	NP_001269585.1|NP_001269586.1|NP_003433.3	P52747	ZN143_HUMAN	zinc finger protein 143	347					regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding|zinc ion binding			endometrium(1)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	13				all cancers(16;4.12e-09)|Epithelial(150;2.29e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0212)		GAAAAGTGCACGTTAGGACAC	0.433													55	115					0	0	1	0	0	T	9522711	C	T	9522711	2	4	309	1	0	0	0	0	0	0	0	1	17790	535	19	1		1	ZNF143	11	9522711	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	770064	9522711	125483805	333	29615											
INSC	387755	broad.mit.edu	37	11	15197574	15197574	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:15197574G>A	ENST00000379554.3	+	3	531	c.485G>A	c.(484-486)cGc>cAc	p.R162H	INSC_ENST00000424273.1_Missense_Mutation_p.R115H|INSC_ENST00000528567.1_Missense_Mutation_p.R115H|INSC_ENST00000379556.3_Missense_Mutation_p.R115H|INSC_ENST00000530161.1_Missense_Mutation_p.R115H|INSC_ENST00000525218.1_Missense_Mutation_p.R115H	NM_001031853.3	NP_001027024.3	Q1MX18	INSC_HUMAN	inscuteable homolog (Drosophila)	162					cell differentiation|nervous system development	cytoplasm	binding			NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(3)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						TGCCATGCCCGCTCCATGGTC	0.622													6	10					0	0	1	0	0	A	15197574	G	A	15197574	3	1	309	1	0	0	0	0	1	0	0	0	7808	1087	38	1	495	1	INSC	11	15197574	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	5674863	15197574	119808942	334	29616											
TSG101	7251	broad.mit.edu	37	11	18503252	18503252	+	Silent	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:18503252G>A	ENST00000536719.1	-	9	1142	c.1008C>T	c.(1006-1008)aaC>aaT	p.N336N	TSG101_ENST00000251968.3_Silent_p.N336N|TSG101_ENST00000357193.3_Silent_p.N231N			Q99816	TS101_HUMAN	tumor susceptibility 101	336	SB.				cell division|cellular membrane organization|endosome transport|interspecies interaction between organisms|non-lytic virus budding|protein transport|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway	early endosome|late endosome membrane|multivesicular body|nucleolus|plasma membrane	calcium-dependent protein binding|DNA binding|transcription corepressor activity|ubiquitin binding|ubiquitin protein ligase binding			kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	22						CTTCAATAGCGTTTTCTTCTG	0.388													36	58					0	0	1	0	0	A	18503252	G	A	18503252	2	1	309	1	0	0	0	0	0	0	0	1	16677	1136	40	1		1	TSG101	11	18503252	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	3305678	18503252	116503264	335	29617											
TMEM86A	144110	broad.mit.edu	37	11	18723160	18723160	+	Silent	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:18723160G>A	ENST00000280734.2	+	3	423	c.327G>A	c.(325-327)tcG>tcA	p.S109S	TMEM86A_ENST00000527002.1_3'UTR	NM_153347.1	NP_699178.1	Q8N2M4	TM86A_HUMAN	transmembrane protein 86A	109						integral to membrane				endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|skin(2)	11						TCTACGCCTCGGCCTTTGGCA	0.587													92	91					0	0	1	0	0	A	18723160	G	A	18723160	2	1	309	1	0	0	0	0	0	0	0	1	16268	1103	39	1		1	TMEM86A	11	18723160	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	219908	18723160	116283356	336	29618											
ELP4	26610	broad.mit.edu	37	11	31805009	31805009	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:31805009C>T	ENST00000379163.5	+	11	1369	c.1354C>T	c.(1354-1356)Cgc>Tgc	p.R452C	ELP4_ENST00000395934.2_3'UTR|ELP4_ENST00000350638.5_Silent_p.S404S			Q96EB1	ELP4_HUMAN	elongator acetyltransferase complex subunit 4	349					histone acetylation|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|Elongator holoenzyme complex|transcription elongation factor complex	phosphorylase kinase regulator activity|protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)	20	Lung SC(675;0.225)					TGGCAGAATCCGCCAAGCGGC	0.522													42	125					0	0	1	0	0	T	31805009	C	T	31805009	3	4	309	1	0	0	0	0	1	0	0	0	5110	639	23	1	1250	1	ELP4	11	31805009	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	13081849	31805009	103201507	337	29619											
QSER1	79832	broad.mit.edu	37	11	32997894	32997895	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:32997894_32997895insA	ENST00000399302.2	+	13	5417_5418	c.5082_5083insA	c.(5083-5085)aaafs	p.K1695fs	QSER1_ENST00000527788.1_Frame_Shift_Ins_p.K1456fs	NM_001076786.1	NP_001070254.1	Q2KHR3	QSER1_HUMAN	glutamine and serine rich 1	1695										breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	48	Breast(20;0.158)					CTTCGGTGCAGAAAAAAAATGA	0.292													20	45	---	---	---	---						A	32997895	-	A	32997894	7	5	309	1	0	1	1	0	0	0	0	0	12934	933	33	0	5124	0	QSER1	11	32997894	Frame_Shift_Ins	INS	-	TCGA-HT-8564-01A-11D-2395-08	1192885	32997894	102008622	338	29620											
CSTF3	1479	broad.mit.edu	37	11	33120307	33120307	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:33120307G>A	ENST00000323959.4	-	13	1196	c.1057C>T	c.(1057-1059)Cgc>Tgc	p.R353C	TCP11L1_ENST00000324357.9_Intron	NM_001326.2	NP_001317.1	Q12996	CSTF3_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 3, 77kDa	353					mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	protein binding|RNA binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(1)|stomach(1)	19						TACTTCATGCGACTCTAAGGT	0.393													28	112					0	0	1	0	0	A	33120307	G	A	33120307	3	1	309	1	0	0	0	0	1	0	0	0	4011	1058	37	1	1132	1	CSTF3	11	33120307	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	122413	33120307	101886209	339	29621											
HIPK3	10114	broad.mit.edu	37	11	33308890	33308891	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:33308890_33308891insA	ENST00000303296.4	+	2	1235_1236	c.930_931insA	c.(931-933)aaafs	p.K311fs	HIPK3_ENST00000379016.3_Frame_Shift_Ins_p.K311fs|HIPK3_ENST00000456517.1_Frame_Shift_Ins_p.K311fs|HIPK3_ENST00000525975.1_Frame_Shift_Ins_p.K311fs	NM_005734.3	NP_005725.3	Q9H422	HIPK3_HUMAN	homeodomain interacting protein kinase 3	311	Protein kinase.				anti-apoptosis|apoptosis|negative regulation of JUN kinase activity|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm	ATP binding|protein serine/threonine kinase activity			endometrium(3)|kidney(3)|large_intestine(9)|liver(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	39						CCACTGCACTGAAAAAATTGAA	0.391													34	168	---	---	---	---						A	33308891	-	A	33308890	7	5	309	1	0	1	1	0	0	0	0	0	7159	1277	45	0	932	0	HIPK3	11	33308890	Frame_Shift_Ins	INS	-	TCGA-HT-8564-01A-11D-2395-08	188583	33308890	101697626	340	29622											
EXT2	2132	broad.mit.edu	37	11	44255740	44255740	+	Missense_Mutation	SNP	G	G	C			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:44255740G>C	ENST00000395673.3	+	12	2037	c.1981G>C	c.(1981-1983)Gat>Cat	p.D661H	EXT2_ENST00000358681.4_Missense_Mutation_p.D638H|EXT2_ENST00000343631.3_Missense_Mutation_p.D628H|EXT2_ENST00000533608.1_Missense_Mutation_p.D628H	NM_000401.3	NP_000392.3	Q93063	EXT2_HUMAN	exostosin glycosyltransferase 2	628					glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction	Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|lung(17)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	32						GAACTGTGAAGATATTGCCAT	0.428			"Mis, N, F, S"			"exostoses, osteosarcoma"			Hereditary Multiple Exostoses				17	41					0	0	1	0	0	C	44255740	G	C	44255740	3	2	309	1	0	0	0	0	1	0	0	0	5352	942	33	4	2124	4	EXT2	11	44255740	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	10946850	44255740	90750776	341	29623											
OR8H1	219469	broad.mit.edu	37	11	56058354	56058354	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:56058354delA	ENST00000313022.2	-	1	212	c.185delT	c.(184-186)ttcfs	p.F62fs		NM_001005199.1	NP_001005199.1	Q8NGG4	OR8H1_HUMAN	olfactory receptor, family 8, subfamily H, member 1	62					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Esophageal squamous(21;0.00448)					GTGAGTAAGGAAAAAATACAT	0.403													10	354	---	---	---	---						-	56058354	A	-	56058354	7	5	309	1	0	1	0	1	0	0	0	0	11284	246	9	0	752	0	OR8H1	11	56058354	Frame_Shift_Del	DEL	A	TCGA-HT-8564-01A-11D-2395-08	11802614	56058354	78948162	342	29624											
TCN1	6947	broad.mit.edu	37	11	59623424	59623424	+	Silent	SNP	G	G	A	rs72550759	byFrequency	TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:59623424G>A	ENST00000257264.3	-	6	959	c.855C>T	c.(853-855)aaC>aaT	p.N285N	TCN1_ENST00000532419.1_Intron	NM_001062.3	NP_001053.2	P20061	TCO1_HUMAN	transcobalamin I (vitamin B12 binding protein, R binder family)	285					cobalamin metabolic process|cobalamin transport|cobalt ion transport	extracellular region	cobalamin binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29		all_epithelial(135;0.198)			Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GGGCTGCAGCGTTTGGATTGC	0.413													5	126					0	0	1	0	0	A	59623424	G	A	59623424	2	1	309	1	0	0	0	0	0	0	0	1	15766	1136	40	1		1	TCN1	11	59623424	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	3565070	59623424	75383092	343	29625											
INCENP	3619	broad.mit.edu	37	11	61912746	61912746	+	Silent	SNP	C	C	T	rs141016037		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:61912746C>T	ENST00000394818.3	+	13	2023	c.1821C>T	c.(1819-1821)gaC>gaT	p.D607D	INCENP_ENST00000278849.4_Silent_p.D603D	NM_001040694.1	NP_001035784.1	Q9NQS7	INCE_HUMAN	inner centromere protein antigens 135/155kDa	607					chromosome segregation|cytokinesis|mitotic prometaphase	centromeric heterochromatin|condensed chromosome kinetochore|cytosol|microtubule|spindle	protein binding			breast(1)|endometrium(1)|kidney(6)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						CTCAGATCGACGAGAAGACTG	0.577													9	131					0	0	1	0	0	T	61912746	C	T	61912746	2	4	309	1	0	0	0	0	0	0	0	1	7777	535	19	1		1	INCENP	11	61912746	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	2289322	61912746	73093770	344	29626											
MTA2	9219	broad.mit.edu	37	11	62362913	62362916	+	Frame_Shift_Del	DEL	GAGA	GAGA	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:62362913_62362916delGAGA	ENST00000278823.2	-	14	1692_1695	c.1303_1306delTCTC	c.(1303-1308)tctcctfs	p.SP435fs	MTA2_ENST00000524902.1_Frame_Shift_Del_p.SP262fs|MTA2_ENST00000527204.1_Frame_Shift_Del_p.SP262fs	NM_004739.3	NP_004730.2	O94776	MTA2_HUMAN	metastasis associated 1 family, member 2	435					chromatin assembly or disassembly	NuRD complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	26						GTTGTGTAAGGAGAGAGACTTTGA	0.51													36	157	---	---	---	---						-	62362916	GAGA	-	62362913	7	5	309	1	0	1	0	1	0	0	0	0	9957	1174	41	0	720	0	MTA2	11	62362913	Frame_Shift_Del	DEL	GAGA	TCGA-HT-8564-01A-11D-2395-08	450167	62362913	72643603	345	29627											
GANAB	23193	broad.mit.edu	37	11	62397318	62397318	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:62397318G>A	ENST00000346178.4	-	15	1786	c.1771C>T	c.(1771-1773)Cgg>Tgg	p.R591W	GANAB_ENST00000356638.3_Missense_Mutation_p.R569W|GANAB_ENST00000540933.1_Missense_Mutation_p.R472W|GANAB_ENST00000534779.1_Missense_Mutation_p.R477W	NM_001278192.1|NM_198335.2	NP_001265121.1|NP_938149.2	Q14697	GANAB_HUMAN	glucosidase, alpha; neutral AB	569					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|Golgi apparatus|melanosome	carbohydrate binding|glucan 1,3-alpha-glucosidase activity|protein binding			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3)	35						TGCACATCCCGGTGCTCCCAG	0.522													5	120					0	0	1	0	0	A	62397318	G	A	62397318	3	1	309	1	0	0	0	0	1	0	0	0	6273	1115	39	1	1173	1	GANAB	11	62397318	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	34405	62397318	72609198	346	29628											
RASGRP2	10235	broad.mit.edu	37	11	64506852	64506852	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:64506852C>T	ENST00000377494.1	-	7	1715	c.793G>A	c.(793-795)Gtt>Att	p.V265I	RASGRP2_ENST00000354024.3_Missense_Mutation_p.V265I|RASGRP2_ENST00000394432.3_Missense_Mutation_p.V265I|RASGRP2_ENST00000377497.3_Missense_Mutation_p.V265I			Q7LDG7	GRP2_HUMAN	RAS guanyl releasing protein 2 (calcium and DAG-regulated)	265	Ras-GEF.				platelet activation|Ras protein signal transduction|regulation of cell growth|regulation of small GTPase mediated signal transduction	cell junction|cytosol|ruffle membrane|synapse|synaptosome	calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TCAGGGCTAACGTGGCTGTGG	0.642													11	66					0	0	1	0	0	T	64506852	C	T	64506852	3	4	309	1	0	0	0	0	1	0	0	0	13127	536	19	1	1072	1	RASGRP2	11	64506852	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	2109534	64506852	70499664	347	29629											
SF1	7536	broad.mit.edu	37	11	64532975	64532975	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:64532975G>A	ENST00000377387.1	-	13	2049	c.1973C>T	c.(1972-1974)gCg>gTg	p.A658V	SF1_ENST00000377390.3_3'UTR|SF1_ENST00000377394.3_Silent_p.G534G|SF1_ENST00000422298.2_Missense_Mutation_p.A418V|SF1_ENST00000227503.9_Missense_Mutation_p.A533V|SF1_ENST00000334944.5_Silent_p.G601G	NM_001178030.1	NP_001171501.1	Q15637	SF01_HUMAN	splicing factor 1	533					nuclear mRNA 3'-splice site recognition|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ribosome|spliceosomal complex	protein binding|RNA binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	31						GGCCATCGCCGCCGCGGGGAG	0.637													123	117					0	0	1	0	0	A	64532975	G	A	64532975	3	1	309	1	0	0	0	0	1	0	0	0	14199	1087	38	1	117	1	SF1	11	64532975	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	26123	64532975	70473541	348	29630											
EFEMP2	30008	broad.mit.edu	37	11	65635366	65635366	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:65635366C>T	ENST00000307998.6	-	10	1366	c.1136G>A	c.(1135-1137)cGt>cAt	p.R379H	EFEMP2_ENST00000528176.1_Missense_Mutation_p.R379H	NM_016938.4	NP_058634.4	O95967	FBLN4_HUMAN	EGF containing fibulin-like extracellular matrix protein 2	379					blood coagulation	basement membrane|membrane	calcium ion binding|extracellular matrix structural constituent|protein binding|transmembrane receptor activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21				READ - Rectum adenocarcinoma(159;0.169)		GTTTCCAGCACGGATCTGAAA	0.552													40	132					0	0	1	0	0	T	65635366	C	T	65635366	3	4	309	1	0	0	0	0	1	0	0	0	4968	536	19	1	203	1	EFEMP2	11	65635366	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	1102391	65635366	69371150	349	29631											
PELI3	246330	broad.mit.edu	37	11	66243521	66243521	+	Silent	SNP	C	C	A	rs139368303		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:66243521C>A	ENST00000349459.6	+	7	1505	c.1221C>A	c.(1219-1221)gcC>gcA	p.A407A	PELI3_ENST00000320740.7_Silent_p.A431A|CTD-3074O7.5_ENST00000533502.1_RNA|CTD-3074O7.5_ENST00000527092.1_RNA	NM_001098510.1	NP_001091980.1	Q8N2H9	PELI3_HUMAN	pellino E3 ubiquitin protein ligase family member 3	431						cytosol	protein binding			breast(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)	15						GCTACTGGGCCCAGACACCAC	0.672													10	18					2.17888e-05	2.19842e-05	1	1	0	A	66243521	C	A	66243521	2	1	309	1	0	0	0	0	0	0	0	1	11770	610	22	5		5	PELI3	11	66243521	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	608155	66243521	68762995	350	29632											
SPTBN2	6712	broad.mit.edu	37	11	66460877	66460877	+	Missense_Mutation	SNP	G	G	A	rs150801133	byFrequency	TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:66460877G>A	ENST00000533211.1	-	24	4965	c.4634C>T	c.(4633-4635)gCg>gTg	p.A1545V	SPTBN2_ENST00000309996.2_Missense_Mutation_p.A1545V|SPTBN2_ENST00000529997.1_Missense_Mutation_p.A1545V			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	1545					actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						CCTCAGGTCCGCGATCCGGGG	0.627													9	35					0	0	1	0	0	A	66460877	G	A	66460877	3	1	309	1	0	0	0	0	1	0	0	0	15176	1087	38	1	2598	1	SPTBN2	11	66460877	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	217356	66460877	68545639	351	29633											
RCE1	9986	broad.mit.edu	37	11	66612694	66612696	+	In_Frame_Del	DEL	TCT	TCT	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:66612694_66612696delTCT	ENST00000309657.3	+	6	721_723	c.677_679delTCT	c.(676-681)atcttc>atc	p.F227del	RCE1_ENST00000525356.1_In_Frame_Del_p.F104del|RCE1_ENST00000524506.1_In_Frame_Del_p.F227del	NM_001032279.1|NM_005133.2	NP_001027450.1|NP_005124.1	Q9Y256	FACE2_HUMAN	Ras converting CAAX endopeptidase 1	227					proteolysis	endoplasmic reticulum membrane|integral to plasma membrane	metalloendopeptidase activity			breast(2)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	10						GTGGGGAACATCTTCTTGTCTGC	0.527													30	52	---	---	---	---						-	66612696	TCT	-	66612694	7	5	309	1	0	1	0	1	0	0	0	0	13228	1435	50	0	699	0	RCE1	11	66612694	In_Frame_Del	DEL	TCT	TCGA-HT-8564-01A-11D-2395-08	151817	66612694	68393822	352	29634											
KDM2A	22992	broad.mit.edu	37	11	67012792	67012792	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:67012792C>T	ENST00000529006.2	+	14	2142	c.1696C>T	c.(1696-1698)Cgg>Tgg	p.R566W	KDM2A_ENST00000530342.1_Missense_Mutation_p.R127W|KDM2A_ENST00000398645.2_Missense_Mutation_p.R566W|KDM2A_ENST00000526258.1_3'UTR|KDM2A_ENST00000308783.5_Missense_Mutation_p.R24W	NM_012308.2	NP_036440.1	Q9Y2K7	KDM2A_HUMAN	lysine (K)-specific demethylase 2A	566					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|urinary_tract(2)	36						AGGAGCCAGACGGAGACGAGT	0.552													38	86					0	0	1	0	0	T	67012792	C	T	67012792	3	4	309	1	0	0	0	0	1	0	0	0	8168	527	19	1	1746	1	KDM2A	11	67012792	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	400098	67012792	67993724	353	29635											
TBX10	347853	broad.mit.edu	37	11	67402373	67402373	+	Frame_Shift_Del	DEL	G	G	-	rs144542807		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:67402373delG	ENST00000335385.3	-	3	378	c.291delC	c.(289-291)cccfs	p.P97fs		NM_005995.4	NP_005986.2	O75333	TBX10_HUMAN	T-box 10	97					anatomical structure morphogenesis|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|lung(4)|ovary(1)	7						TCACCTGGAAGGGGGGGAACA	0.677													43	58	---	---	---	---						-	67402373	G	-	67402373	7	5	309	1	0	1	0	1	0	0	0	0	15711	987	35	0	890	0	TBX10	11	67402373	Frame_Shift_Del	DEL	G	TCGA-HT-8564-01A-11D-2395-08	389581	67402373	67604143	354	29636											
SUV420H1	51111	broad.mit.edu	37	11	67925272	67925272	+	Silent	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:67925272G>A	ENST00000304363.4	-	11	2894	c.2541C>T	c.(2539-2541)gaC>gaT	p.D847D		NM_017635.3	NP_060105	Q4FZB7	SV421_HUMAN	suppressor of variegation 4-20 homolog 1 (Drosophila)	847					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						GAATAAAATCGTCTTCAAAGT	0.403													39	43					0	0	1	0	0	A	67925272	G	A	67925272	2	1	309	1	0	0	0	0	0	0	0	1	15470	1136	40	1		1	SUV420H1	11	67925272	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	522899	67925272	67081244	355	29637											
MRGPRD	116512	broad.mit.edu	37	11	68748335	68748335	+	Missense_Mutation	SNP	C	C	T	rs144924033		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:68748335C>T	ENST00000309106.3	-	1	120	c.121G>A	c.(121-123)Ggg>Agg	p.G41R		NM_198923.2	NP_944605.2	Q8TDS7	MRGRD_HUMAN	MAS-related GPR, member D	41						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2)	22			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			CCTGCCATCCCGCACAGGCAG	0.597													53	53					0	0	1	0	0	T	68748335	C	T	68748335	3	4	309	1	0	0	0	0	1	0	0	0	9812	652	23	1	847	1	MRGPRD	11	68748335	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	823063	68748335	66258181	356	29638											
PRCP	5547	broad.mit.edu	37	11	82550376	82550376	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:82550376G>A	ENST00000313010.3	-	7	1207	c.1013C>T	c.(1012-1014)tCg>tTg	p.S338L	PRCP_ENST00000535099.1_Missense_Mutation_p.S233L|PRCP_ENST00000525772.1_5'UTR|PRCP_ENST00000393399.2_Missense_Mutation_p.S359L	NM_005040.2	NP_005031.1	P42785	PCP_HUMAN	prolylcarboxypeptidase (angiotensinase C)	338					blood coagulation, intrinsic pathway|proteolysis	lysosome|plasma membrane	protein binding|serine-type carboxypeptidase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	17						CACCTGGCCCGAATAATTGTA	0.403													27	103					0	0	1	0	0	A	82550376	G	A	82550376	3	1	309	1	0	0	0	0	1	0	0	0	12501	1059	37	1	489	1	PRCP	11	82550376	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	13802041	82550376	52456140	357	29639											
PCF11	51585	broad.mit.edu	37	11	82877339	82877340	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:82877339_82877340delAG	ENST00000298281.4	+	5	1852_1853	c.1400_1401delAG	c.(1399-1401)cagfs	p.Q467fs		NM_015885.3	NP_056969.2	O94913	PCF11_HUMAN	PCF11 cleavage and polyadenylation factor subunit	467					mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage factor complex				cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						TCAGAAAAACAGGGGACAAAAC	0.411													11	18	---	---	---	---						-	82877340	AG	-	82877339	7	5	309	1	0	1	0	1	0	0	0	0	11620	188	7	0	1418	0	PCF11	11	82877339	Frame_Shift_Del	DEL	AG	TCGA-HT-8564-01A-11D-2395-08	326963	82877339	52129177	358	29640											
FAT3	120114	broad.mit.edu	37	11	92568224	92568224	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:92568224G>A	ENST00000298047.6	+	14	10077	c.10060G>A	c.(10060-10062)Gcc>Acc	p.A3354T	FAT3_ENST00000525166.1_Missense_Mutation_p.A3204T|FAT3_ENST00000409404.2_Missense_Mutation_p.A3354T			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3354	Cadherin 31.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CAGTGAAGACGCCTTGGTGGG	0.483										TCGA Ovarian(4;0.039)			3	33					0	0	1	0	0	A	92568224	G	A	92568224	3	1	309	1	0	0	0	0	1	0	0	0	5724	1087	38	1	10114	1	FAT3	11	92568224	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	9690885	92568224	42438292	359	29641											
AMOTL1	154810	broad.mit.edu	37	11	94554766	94554766	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:94554766G>A	ENST00000433060.2	+	4	1333	c.1192G>A	c.(1192-1194)Gcc>Acc	p.A398T	AMOTL1_ENST00000317829.8_Missense_Mutation_p.A348T|AMOTL1_ENST00000317837.9_Intron|AMOTL1_ENST00000539727.1_3'UTR	NM_130847.2	NP_570899.1	Q8IY63	AMOL1_HUMAN	angiomotin like 1	398						cytoplasm|tight junction	identical protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	36		Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824)				GACCTCTTCCGCCAGCGGGCC	0.662													18	25					0	0	1	0	0	A	94554766	G	A	94554766	3	1	309	1	0	0	0	0	1	0	0	0	579	1087	38	1	1206	1	AMOTL1	11	94554766	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	1986542	94554766	40451750	360	29642											
AASDHPPT	60496	broad.mit.edu	37	11	105967614	105967614	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:105967614C>T	ENST00000278618.4	+	6	1132	c.910C>T	c.(910-912)Cga>Tga	p.R304*	RP11-677I18.3_ENST00000527594.1_RNA|RP11-677I18.3_ENST00000532422.1_RNA	NM_015423.2	NP_056238.2	Q9NRN7	ADPPT_HUMAN	aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase	304					macromolecule biosynthetic process|pantothenate metabolic process	cytosol	holo-[acyl-carrier-protein] synthase activity|magnesium ion binding|protein binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)	17		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)		BRCA - Breast invasive adenocarcinoma(274;5.78e-05)|Epithelial(105;0.00622)|all cancers(92;0.041)		AATTCCAATACGAAATGGTAC	0.348													9	29					0	0	1	0	0	T	105967614	C	T	105967614	4	4	309	1	0	0	0	0	0	1	0	0	23	528	19	1	932	1	AASDHPPT	11	105967614	Nonsense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	11412848	105967614	29038902	361	29643											
PCSK7	9159	broad.mit.edu	37	11	117100140	117100140	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:117100140G>A	ENST00000320934.3	-	3	1051	c.421C>T	c.(421-423)Cgc>Tgc	p.R141C		NM_004716.2	NP_004707.2	Q16549	PCSK7_HUMAN	proprotein convertase subtilisin/kexin type 7	141		Cleavage; by autolysis (By similarity).			peptide hormone processing	integral to Golgi membrane	serine-type endopeptidase activity			NS(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	16	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|Epithelial(105;6.71e-05)|all cancers(92;0.000537)		TGGACGCTGCGCTTGGCCCGC	0.617			T	IGH@	MLCLS								48	170					0	0	1	0	0	A	117100140	G	A	117100140	3	1	309	1	0	0	0	0	1	0	0	0	11652	1087	38	1	1996	1	PCSK7	11	117100140	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	11132526	117100140	17906376	362	29644											
ABCG4	64137	broad.mit.edu	37	11	119029628	119029628	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:119029628G>A	ENST00000307417.3	+	12	1790	c.1426G>A	c.(1426-1428)Gtg>Atg	p.V476M	ABCG4_ENST00000449422.2_Missense_Mutation_p.V476M|ABCG4_ENST00000531739.1_Missense_Mutation_p.V476M	NM_022169.4	NP_071452.2	Q9H172	ABCG4_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 4	476	ABC transmembrane type-2.				cholesterol efflux	integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1)	44	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		CATGGCTGACGTGCCCTTTCA	0.542													47	136					0	0	1	0	0	A	119029628	G	A	119029628	3	1	309	1	0	0	0	0	1	0	0	0	70	1145	40	1	1468	1	ABCG4	11	119029628	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	1929488	119029628	15976888	363	29645											
ZNF202	7753	broad.mit.edu	37	11	123596990	123596990	+	Silent	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:123596990C>T	ENST00000336139.4	-	8	2024	c.1662G>A	c.(1660-1662)gcG>gcA	p.A554A	ZNF202_ENST00000530393.1_Silent_p.A554A|ZNF202_ENST00000529691.1_Silent_p.A554A			O95125	ZN202_HUMAN	zinc finger protein 202	554					lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.03)		TCTTCCGGTGCGCCAGGTACC	0.577													61	69					0	0	1	0	0	T	123596990	C	T	123596990	2	4	309	1	0	0	0	0	0	0	0	1	17821	755	27	1		1	ZNF202	11	123596990	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	4567362	123596990	11409526	364	29646											
OR10G7	390265	broad.mit.edu	37	11	123909049	123909049	+	Silent	SNP	G	G	A	rs12291067	byFrequency	TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:123909049G>A	ENST00000330487.5	-	1	668	c.660C>T	c.(658-660)atC>atT	p.I220I		NM_001004463.1	NP_001004463.1	Q8NGN6	O10G7_HUMAN	olfactory receptor, family 10, subfamily G, member 7	220					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1)	47		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		TGGAACAGACGATGGACACAT	0.557													31	106					0	0	1	0	0	A	123909049	G	A	123909049	2	1	309	1	0	0	0	0	0	0	0	1	10950	1048	37	1		1	OR10G7	11	123909049	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	312059	123909049	11097467	365	29647											
NINJ2	4815	broad.mit.edu	37	12	674455	674455	+	Silent	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr12:674455G>A	ENST00000305108.4	-	3	793	c.513C>T	c.(511-513)ttC>ttT	p.F171F	NINJ2_ENST00000397265.3_Silent_p.F118F|NINJ2_ENST00000542920.1_Silent_p.F89F	NM_016533.4	NP_057617.2	Q9NZG7	NINJ2_HUMAN	ninjurin 2	125					nervous system development|neuron cell-cell adhesion|tissue regeneration	integral to plasma membrane				large_intestine(3)|lung(1)|ovary(2)	6	all_cancers(10;0.0101)|all_epithelial(11;0.0174)|Ovarian(42;0.0512)|all_lung(10;0.103)|Lung NSC(10;0.185)		OV - Ovarian serous cystadenocarcinoma(31;3.26e-05)|BRCA - Breast invasive adenocarcinoma(9;0.0508)			TATGTGCCCCGAAGGCTGTAA	0.537													9	91					0	0	1	0	0	A	674455	G	A	674455	2	1	309	1	0	0	0	0	0	0	0	1	10466	1049	37	1		1	NINJ2	12	674455	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08		674455	133177440	366	29648											
KCNA1	3736	broad.mit.edu	37	12	5021390	5021390	+	Silent	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr12:5021390C>T	ENST00000382545.3	+	2	1953	c.846C>T	c.(844-846)ggC>ggT	p.G282G	KCNA1_ENST00000543874.2_Intron	NM_000217.2	NP_000208.2	Q09470	KCNA1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)	282					synaptic transmission	juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity			NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63					Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	ACCAGAAGGGCGAGCAGGCCA	0.517													54	94					0	0	1	0	0	T	5021390	C	T	5021390	2	4	309	1	0	0	0	0	0	0	0	1	8045	755	27	1		1	KCNA1	12	5021390	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	4346935	5021390	128830505	367	29649											
CLSTN3	9746	broad.mit.edu	37	12	7310123	7310123	+	Missense_Mutation	SNP	G	G	A	rs138735435		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr12:7310123G>A	ENST00000537408.1	+	16	3140	c.2602G>A	c.(2602-2604)Gtg>Atg	p.V868M	CLSTN3_ENST00000331148.5_3'UTR|CLSTN3_ENST00000266546.6_Missense_Mutation_p.V856M			Q9BQT9	CSTN3_HUMAN	calsyntenin 3	856					homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding	p.V856M(1)		NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1)	33						TGTGGTGTGCGTGGGCTTCCT	0.667													32	43					0	0	1	0	0	A	7310123	G	A	7310123	3	1	309	1	0	0	0	0	1	0	0	0	3586	1145	40	1	2632	1	CLSTN3	12	7310123	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	2288733	7310123	126541772	368	29650											
KLRC2	3822	broad.mit.edu	37	12	10584712	10584712	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr12:10584712T>C	ENST00000381902.2	-	5	583	c.577A>G	c.(577-579)Aaa>Gaa	p.K193E	KLRC2_ENST00000536833.2_Missense_Mutation_p.K134E|NKG2-E_ENST00000539033.1_Intron|KLRC2_ENST00000381901.1_Missense_Mutation_p.K193E	NM_002260.3	NP_002251.2	P26717	NKG2C_HUMAN	killer cell lectin-like receptor subfamily C, member 2	193	C-type lectin.				cellular defense response	integral to plasma membrane	sugar binding|transmembrane receptor activity			kidney(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)	11						TACTTATGTTTGAAAGCCAAA	0.313													12	51					0	0	1	0	0	C	10584712	T	C	10584712	3	2	309	1	0	0	0	0	1	0	0	0	8459	1821	63	3	126	3	KLRC2	12	10584712	Missense_Mutation	SNP	T	TCGA-HT-8564-01A-11D-2395-08	3274589	10584712	123267183	369	29651											
LRP6	4040	broad.mit.edu	37	12	12302045	12302045	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr12:12302045C>T	ENST00000261349.4	-	14	3113	c.3037G>A	c.(3037-3039)Gaa>Aaa	p.E1013K	LRP6_ENST00000543091.1_Missense_Mutation_p.E1013K	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	1013	Beta-propeller 4.				cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				GGTTGTATTTCCAGGTTCTGA	0.438													147	216					0	0	1	0	0	T	12302045	C	T	12302045	3	4	309	1	0	0	0	0	1	0	0	0	9007	864	30	2	1844	2	LRP6	12	12302045	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	1717333	12302045	121549850	370	29652											
CACNB3	784	broad.mit.edu	37	12	49221502	49221504	+	In_Frame_Del	DEL	GGA	GGA	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr12:49221502_49221504delGGA	ENST00000301050.2	+	13	1474_1476	c.1275_1277delGGA	c.(1273-1278)ctggag>ctg	p.E427del	CACNB3_ENST00000536187.2_In_Frame_Del_p.E426del|CACNB3_ENST00000547392.1_In_Frame_Del_p.E400del|CACNB3_ENST00000540990.1_In_Frame_Del_p.E414del|CACNB3_ENST00000547230.1_In_Frame_Del_p.E386del	NM_000725.3	NP_000716.2	P54284	CACB3_HUMAN	calcium channel, voltage-dependent, beta 3 subunit	427					axon guidance|membrane depolarization|synaptic transmission	cytosol|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			autonomic_ganglia(1)|breast(1)|large_intestine(5)|lung(4)|prostate(1)	12					Verapamil(DB00661)	CCCGCCACCTGGAGGAGGACTAT	0.631													33	148	---	---	---	---						-	49221504	GGA	-	49221502	7	5	309	1	0	1	0	1	0	0	0	0	2572	1335	47	0	1325	0	CACNB3	12	49221502	In_Frame_Del	DEL	GGA	TCGA-HT-8564-01A-11D-2395-08	36919457	49221502	84630393	371	29653											
DDN	23109	broad.mit.edu	37	12	49392947	49392947	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr12:49392947A>G	ENST00000421952.2	-	1	145	c.124T>C	c.(124-126)Tcc>Ccc	p.S42P	RP11-386G11.5_ENST00000547395.1_RNA|RP11-386G11.5_ENST00000552933.1_RNA|RP11-386G11.5_ENST00000547866.1_RNA|RP11-386G11.5_ENST00000552284.1_RNA	NM_015086.1	NP_055901.2	O94850	DEND_HUMAN	dendrin	42						dendritic spine membrane|endoplasmic reticulum membrane|nucleus|perikaryon				NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)	8						TAATGACAGGAAATAGTCTTC	0.607													27	44					0	0	1	0	0	G	49392947	A	G	49392947	3	3	309	1	0	0	0	0	1	0	0	0	4356	246	9	3	2019	3	DDN	12	49392947	Missense_Mutation	SNP	A	TCGA-HT-8564-01A-11D-2395-08	171445	49392947	84458948	372	29654											
KRT83	3889	broad.mit.edu	37	12	52713013	52713013	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr12:52713013C>T	ENST00000293670.3	-	2	582	c.520G>A	c.(520-522)Gtg>Atg	p.V174M		NM_002282.3	NP_002273.3	P78385	KRT83_HUMAN	keratin 83	174	Coil 1B.|Rod.				epidermis development	keratin filament	structural molecule activity			NS(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(4)|stomach(7)|upper_aerodigestive_tract(1)	32	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		TCAGCCTCCACGCACTCGGCC	0.612													81	169					0	0	1	0	0	T	52713013	C	T	52713013	3	4	309	1	0	0	0	0	1	0	0	0	8540	536	19	1	993	1	KRT83	12	52713013	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	3320066	52713013	81138882	373	29655											
ITGA7	3679	broad.mit.edu	37	12	56094110	56094110	+	Silent	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr12:56094110G>A	ENST00000257880.7	-	5	957	c.738C>T	c.(736-738)taC>taT	p.Y246Y	ITGA7_ENST00000452168.2_Silent_p.Y149Y|ITGA7_ENST00000555728.1_Silent_p.Y246Y|ITGA7_ENST00000394229.2_Intron|ITGA7_ENST00000257879.6_Intron|ITGA7_ENST00000394230.2_Silent_p.Y246Y|ITGA7_ENST00000347027.6_Intron|ITGA7_ENST00000553804.1_Silent_p.Y246Y			Q13683	ITA7_HUMAN	integrin, alpha 7	246					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						CCCCCGCCTCGTAGGGACCGT	0.662													24	54					0	0	1	0	0	A	56094110	G	A	56094110	2	1	309	1	0	0	0	0	0	0	0	1	7925	1140	40	1		1	ITGA7	12	56094110	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	3381097	56094110	77757785	374	29656											
SMARCC2	6601	broad.mit.edu	37	12	56568511	56568511	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr12:56568511G>A	ENST00000394023.3	-	16	1525	c.1420C>T	c.(1420-1422)Cga>Tga	p.R474*	SMARCC2_ENST00000347471.4_Nonsense_Mutation_p.R474*|SMARCC2_ENST00000550164.1_Nonsense_Mutation_p.R474*|RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000267064.4_Nonsense_Mutation_p.R474*	NM_001130420.1	NP_001123892.1	Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	474	SWIRM.				chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			GGGTTCAGTCGGTAAGTGTCA	0.468													30	166					0	0	1	0	0	A	56568511	G	A	56568511	4	1	309	1	0	0	0	0	0	1	0	0	14830	1124	39	1	2373	1	SMARCC2	12	56568511	Nonsense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	474401	56568511	77283384	375	29657											
TIMELESS	8914	broad.mit.edu	37	12	56815752	56815752	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr12:56815752C>T	ENST00000229201.4	-	21	2724	c.2570G>A	c.(2569-2571)cGa>cAa	p.R857Q	TIMELESS_ENST00000553532.1_Missense_Mutation_p.R858Q|TIMELESS_ENST00000554616.1_Missense_Mutation_p.R355Q	NM_003920.3	NP_003911.2	Q9UNS1	TIM_HUMAN	timeless circadian clock	858					cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent	nuclear chromatin				NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						CTTGCGTGTTCGAGGAACAGT	0.547													91	110					0	0	1	0	0	T	56815752	C	T	56815752	3	4	309	1	0	0	0	0	1	0	0	0	15964	884	31	1	1089	1	TIMELESS	12	56815752	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	247241	56815752	77036143	376	29658											
MARCH9	92979	broad.mit.edu	37	12	58152527	58152527	+	Silent	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr12:58152527G>A	ENST00000266643.5	+	4	1319	c.888G>A	c.(886-888)acG>acA	p.T296T	MARCH9_ENST00000548358.1_Silent_p.T183T	NM_138396.5	NP_612405.2	Q86YJ5	MARH9_HUMAN	membrane-associated ring finger (C3HC4) 9	296						Golgi membrane|Golgi stack|integral to membrane|lysosomal membrane|trans-Golgi network	ligase activity|zinc ion binding			autonomic_ganglia(1)|large_intestine(2)|lung(1)	4	all_cancers(7;4.96e-69)|Lung NSC(6;5.5e-25)|all_lung(6;3.87e-23)|all_epithelial(6;1.66e-15)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294)			CTGGGGCCACGAGCCGCCCCC	0.652													10	26					0	0	1	0	0	A	58152527	G	A	58152527	2	1	309	1	0	0	0	0	0	0	0	1	9358	1045	37	1		1	MARCH9	12	58152527	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	1336775	58152527	75699368	377	29659											
USP15	9958	broad.mit.edu	37	12	62715345	62715345	+	Silent	SNP	T	T	C			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr12:62715345T>C	ENST00000280377.5	+	5	634	c.576T>C	c.(574-576)aaT>aaC	p.N192N	USP15_ENST00000393654.3_Silent_p.N192N|USP15_ENST00000312635.6_Silent_p.N192N|USP15_ENST00000550632.1_3'UTR|USP15_ENST00000353364.3_Silent_p.N192N	NM_001252078.1	NP_001239007.1	Q9Y4E8	UBP15_HUMAN	ubiquitin specific peptidase 15	192					protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37			GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)		AACCACTGAATAAACCAGACA	0.333													24	33					0	0	1	0	0	C	62715345	T	C	62715345	2	2	309	1	0	0	0	0	0	0	0	1	17106	1403	49	3		3	USP15	12	62715345	Silent	SNP	T	TCGA-HT-8564-01A-11D-2395-08	4562818	62715345	71136550	378	29660											
XPOT	11260	broad.mit.edu	37	12	64811871	64811871	+	Silent	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr12:64811871G>A	ENST00000332707.5	+	5	775	c.246G>A	c.(244-246)acG>acA	p.T82T		NM_007235.4	NP_009166.2	O43592	XPOT_HUMAN	exportin, tRNA	82	Necessary for interaction with Ran, nuclear localization and nuclear import.				intracellular protein transport|tRNA export from nucleus	cytoplasm|nucleoplasm	protein transporter activity|tRNA binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				GBM - Glioblastoma multiforme(28;0.0404)		TTAGGGAGACGCTCATATCAT	0.323													32	71					0	0	1	0	0	A	64811871	G	A	64811871	2	1	309	1	0	0	0	0	0	0	0	1	17510	1074	38	1		1	XPOT	12	64811871	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	2096526	64811871	69040024	379	29661											
LEMD3	23592	broad.mit.edu	37	12	65637238	65637238	+	Silent	SNP	T	T	C			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr12:65637238T>C	ENST00000308330.2	+	10	2402	c.2376T>C	c.(2374-2376)ttT>ttC	p.F792F		NM_001167614.1|NM_014319.4	NP_001161086.1|NP_055134.2	Q9Y2U8	MAN1_HUMAN	LEM domain containing 3	792	Interaction with SMAD1, SMAD2, SMAD3 and SMAD5.				negative regulation of activin receptor signaling pathway|negative regulation of BMP signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway	integral to nuclear inner membrane|membrane fraction	DNA binding|nucleotide binding|protein binding			breast(1)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	36			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0104)		GGAATATGTTTGATCCCGTTA	0.318													41	62					0	0	1	0	0	C	65637238	T	C	65637238	2	2	309	1	0	0	0	0	0	0	0	1	8760	1809	63	3		3	LEMD3	12	65637238	Silent	SNP	T	TCGA-HT-8564-01A-11D-2395-08	825367	65637238	68214657	380	29662											
BEST3	144453	broad.mit.edu	37	12	70048984	70048984	+	Silent	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr12:70048984G>A	ENST00000330891.5	-	10	1936	c.1710C>T	c.(1708-1710)agC>agT	p.S570S	BEST3_ENST00000488961.1_Silent_p.S357S|BEST3_ENST00000331471.4_Intron|BEST3_ENST00000553096.1_Silent_p.S464S	NM_001282613.1|NM_032735.2	NP_001269542.1|NP_116124.2	Q8N1M1	BEST3_HUMAN	bestrophin 3	570						chloride channel complex|plasma membrane	chloride channel activity			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			TTTCCTCAGCGCTGGCTGAAA	0.557													22	77					0	0	1	0	0	A	70048984	G	A	70048984	2	1	309	1	0	0	0	0	0	0	0	1	1404	1078	38	1		1	BEST3	12	70048984	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	4411746	70048984	63802911	381	29663											
CCDC41	51134	broad.mit.edu	37	12	94769688	94769688	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr12:94769688G>A	ENST00000397809.5	-	8	1456	c.907C>T	c.(907-909)Cga>Tga	p.R303*	CCDC41_ENST00000547575.1_Nonsense_Mutation_p.R303*|CCDC41_ENST00000339839.5_Nonsense_Mutation_p.R303*|CCDC41_ENST00000397807.2_Nonsense_Mutation_p.R270*|CCDC41_ENST00000549352.1_5'UTR	NM_016122.2	NP_057206.2	Q9Y592	CCD41_HUMAN	coiled-coil domain containing 41	295										breast(1)|central_nervous_system(3)|kidney(3)|large_intestine(8)|lung(8)|prostate(2)|skin(2)	27						TTTATTTCTCGTTCAGCTTTA	0.259													5	18					0	0	1	0	0	A	94769688	G	A	94769688	4	1	309	1	0	0	0	0	0	1	0	0	2832	1153	40	1	1238	1	CCDC41	12	94769688	Nonsense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	24720704	94769688	39082207	382	29664											
NT5DC3	51559	broad.mit.edu	37	12	104208744	104208744	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr12:104208744C>T	ENST00000392876.3	-	2	404	c.364G>A	c.(364-366)Gca>Aca	p.A122T		NM_001031701.2	NP_001026871.1	Q86UY8	NT5D3_HUMAN	5'-nucleotidase domain containing 3	122							hydrolase activity|metal ion binding			NS(1)|breast(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(15)|ovary(2)|skin(1)|stomach(2)	30						AGGTCCCGTGCAGCATTAAAT	0.448													74	121					0	0	1	0	0	T	104208744	C	T	104208744	3	4	309	1	0	0	0	0	1	0	0	0	10740	710	25	2	1334	2	NT5DC3	12	104208744	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	9439056	104208744	29643151	383	29665											
TDG	6996	broad.mit.edu	37	12	104376688	104376688	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr12:104376688C>T	ENST00000392872.3	+	5	824	c.590C>T	c.(589-591)aCg>aTg	p.T197M	TDG_ENST00000542036.1_Missense_Mutation_p.R21C|TDG_ENST00000544861.1_Missense_Mutation_p.T54M|TDG_ENST00000266775.9_Missense_Mutation_p.T193M	NM_003211.4	NP_003202.3	Q13569	TDG_HUMAN	thymine-DNA glycosylase	197					depyrimidination|mismatch repair	nucleoplasm	damaged DNA binding|mismatched DNA binding|protein binding|pyrimidine-specific mismatch base pair DNA N-glycosylase activity			large_intestine(2)|lung(14)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(302;0.00114)		GAAAGGACCACGCCCGGCAGC	0.463								Base excision repair (BER), DNA glycosylases					63	118					0	0	1	0	0	T	104376688	C	T	104376688	3	4	309	1	0	0	0	0	1	0	0	0	15784	536	19	1	608	1	TDG	12	104376688	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	167944	104376688	29475207	384	29666											
KCTD10	83892	broad.mit.edu	37	12	109889453	109889453	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr12:109889453C>T	ENST00000228495.6	-	7	1170	c.889G>A	c.(889-891)Gtg>Atg	p.V297M	KCTD10_ENST00000538161.1_5'UTR|KCTD10_ENST00000424763.2_Missense_Mutation_p.V116M|KCTD10_ENST00000540411.1_Missense_Mutation_p.V271M|KCTD10_ENST00000540089.1_Missense_Mutation_p.V116M	NM_031954.3	NP_114160.1	Q9H3F6	BACD3_HUMAN	potassium channel tetramerization domain containing 10	297					proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination	Cul3-RING ubiquitin ligase complex|cytoplasm|nucleus|voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)	10						ATCCTCCGCACGCGCTCGATC	0.716													46	80					0	0	1	0	0	T	109889453	C	T	109889453	3	4	309	1	0	0	0	0	1	0	0	0	8141	536	19	1	56	1	KCTD10	12	109889453	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	5512765	109889453	23962442	385	29667											
OAS1	4938	broad.mit.edu	37	12	113354493	113354494	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr12:113354493_113354494insA	ENST00000452357.2	+	4	1024_1025	c.834_835insA	c.(835-837)aaafs	p.K279fs	OAS1_ENST00000551241.1_Frame_Shift_Ins_p.K279fs|RP1-71H24.1_ENST00000552784.1_RNA|OAS1_ENST00000202917.5_Frame_Shift_Ins_p.K279fs|OAS1_ENST00000445409.2_Frame_Shift_Ins_p.K279fs	NM_002534.2	NP_002525.2	P00973	OAS1_HUMAN	2'-5'-oligoadenylate synthetase 1, 40/46kDa	279					interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	endoplasmic reticulum|microsome|mitochondrion|nucleus	ATP binding|nucleotidyltransferase activity|RNA binding			cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2)|skin(1)	16						ATTATGACTTTAAAAACCCCAT	0.431													78	124	---	---	---	---						A	113354494	-	A	113354493	7	5	309	1	0	1	1	0	0	0	0	0	10847	1751	61	0	848	0	OAS1	12	113354493	Frame_Shift_Ins	INS	-	TCGA-HT-8564-01A-11D-2395-08	3465040	113354493	20497402	386	29668											
CIT	11113	broad.mit.edu	37	12	120128190	120128190	+	Silent	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr12:120128190C>T	ENST00000392521.2	-	47	6007	c.5952G>A	c.(5950-5952)gcG>gcA	p.A1984A	CIT_ENST00000537607.1_5'UTR|CIT_ENST00000261833.7_Silent_p.A1942A	NM_001206999.1	NP_001193928.1	O14578	CTRO_HUMAN	citron (rho-interacting, serine/threonine kinase 21)	1942					intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		CTTCGGGCGGCGCTGGGCTGG	0.706													13	22					0	0	1	0	0	T	120128190	C	T	120128190	2	4	309	1	0	0	0	0	0	0	0	1	3461	755	27	1		1	CIT	12	120128190	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	6773697	120128190	13723705	387	29669											
CIT	11113	broad.mit.edu	37	12	120189940	120189940	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr12:120189940G>A	ENST00000392521.2	-	23	2874	c.2819C>T	c.(2818-2820)gCg>gTg	p.A940V	CIT_ENST00000537607.1_5'UTR|CIT_ENST00000261833.7_Missense_Mutation_p.A898V	NM_001206999.1	NP_001193928.1	O14578	CTRO_HUMAN	citron (rho-interacting, serine/threonine kinase 21)	898					intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		CTCCAGGGCCGCCCGTGCAGC	0.627													30	58					0	0	1	0	0	A	120189940	G	A	120189940	3	1	309	1	0	0	0	0	1	0	0	0	3461	1087	38	1	3494	1	CIT	12	120189940	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	61750	120189940	13661955	388	29670											
RNF10	9921	broad.mit.edu	37	12	121000755	121000755	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr12:121000755A>G	ENST00000325954.4	+	8	1597	c.1136A>G	c.(1135-1137)gAa>gGa	p.E379G	RNF10_ENST00000413266.2_Missense_Mutation_p.E379G	NM_014868.4	NP_055683.3	Q8N5U6	RNF10_HUMAN	ring finger protein 10	379					negative regulation of Schwann cell proliferation|positive regulation of myelination|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|transcription regulatory region DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	27	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TAGACTCGGGAAGAGGCTCTG	0.547													31	66					0	0	1	0	0	G	121000755	A	G	121000755	3	3	309	1	0	0	0	0	1	0	0	0	13474	246	9	3	1166	3	RNF10	12	121000755	Missense_Mutation	SNP	A	TCGA-HT-8564-01A-11D-2395-08	810815	121000755	12851140	389	29671											
PITPNM2	57605	broad.mit.edu	37	12	123473364	123473364	+	Silent	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr12:123473364G>A	ENST00000280562.5	-	18	2974	c.2769C>T	c.(2767-2769)gaC>gaT	p.D923D	PITPNM2_ENST00000392428.1_Silent_p.D650D|PITPNM2_ENST00000542749.1_Silent_p.D929D|PITPNM2_ENST00000320201.4_Silent_p.D929D			Q9BZ72	PITM2_HUMAN	phosphatidylinositol transfer protein, membrane-associated 2	860	DDHD.				metabolic process|transport	endomembrane system|integral to membrane|intracellular membrane-bounded organelle	calcium ion binding|lipid binding			NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		CCGTGAGGGCGTCAGGGCAGT	0.642													6	15					0	0	1	0	0	A	123473364	G	A	123473364	2	1	309	1	0	0	0	0	0	0	0	1	11999	1136	40	1		1	PITPNM2	12	123473364	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	2472609	123473364	10378531	390	29672											
PITPNM2	57605	broad.mit.edu	37	12	123479976	123479976	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr12:123479976C>T	ENST00000280562.5	-	13	2219	c.2014G>A	c.(2014-2016)Gag>Aag	p.E672K	PITPNM2_ENST00000392428.1_Missense_Mutation_p.E393K|PITPNM2_ENST00000542749.1_Missense_Mutation_p.E672K|PITPNM2_ENST00000320201.4_Missense_Mutation_p.E672K			Q9BZ72	PITM2_HUMAN	phosphatidylinositol transfer protein, membrane-associated 2	672					metabolic process|transport	endomembrane system|integral to membrane|intracellular membrane-bounded organelle	calcium ion binding|lipid binding			NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		GTATCCAGCTCGTAGGTGGAT	0.647													27	124					0	0	1	0	0	T	123479976	C	T	123479976	3	4	309	1	0	0	0	0	1	0	0	0	11999	893	31	1	2087	1	PITPNM2	12	123479976	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	6612	123479976	10371919	391	29673											
NCOR2	9612	broad.mit.edu	37	12	124826571	124826571	+	Silent	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr12:124826571C>T	ENST00000356219.3	-	35	5162	c.5007G>A	c.(5005-5007)ccG>ccA	p.P1669P	NCOR2_ENST00000404621.1_Silent_p.P1652P|NCOR2_ENST00000397355.1_Silent_p.P1653P|NCOR2_ENST00000405201.1_Silent_p.P1662P|NCOR2_ENST00000404121.2_Silent_p.P1223P|NCOR2_ENST00000429285.2_Silent_p.P1652P	NM_006312.5	NP_006303.4	Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	1670					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		GGTACAGGTGCGGGTAGGTGG	0.652													24	55					0	0	1	0	0	T	124826571	C	T	124826571	2	4	309	1	0	0	0	0	0	0	0	1	10283	755	27	1		1	NCOR2	12	124826571	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	1346595	124826571	9025324	392	29674											
DHX37	57647	broad.mit.edu	37	12	125434988	125434988	+	Missense_Mutation	SNP	C	C	T	rs146274723	byFrequency	TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr12:125434988C>T	ENST00000308736.2	-	23	3190	c.3092G>A	c.(3091-3093)cGg>cAg	p.R1031Q	DHX37_ENST00000544745.1_Missense_Mutation_p.R818Q	NM_032656.3	NP_116045.2	Q8IY37	DHX37_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 37	1031							ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3)	65	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)		ACACAGCACCCGCCCCCGCTC	0.657													29	32					0	0	1	0	0	T	125434988	C	T	125434988	3	4	309	1	0	0	0	0	1	0	0	0	4538	652	23	1	401	1	DHX37	12	125434988	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	608417	125434988	8416907	393	29675											
TMEM132D	121256	broad.mit.edu	37	12	129566505	129566505	+	Silent	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr12:129566505G>A	ENST00000422113.2	-	7	2048	c.1722C>T	c.(1720-1722)caC>caT	p.H574H	TMEM132D_ENST00000389441.4_Silent_p.H112H	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	574						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		GCACCATGGCGTGCTGGTACT	0.657													46	79					0	0	1	0	0	A	129566505	G	A	129566505	2	1	309	1	0	0	0	0	0	0	0	1	16107	1136	40	1		1	TMEM132D	12	129566505	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	4131517	129566505	4285390	394	29676											
RIMBP2	23504	broad.mit.edu	37	12	130921520	130921520	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr12:130921520G>A	ENST00000261655.4	-	10	2085	c.1922C>T	c.(1921-1923)cCg>cTg	p.P641L	RIMBP2_ENST00000536002.1_Missense_Mutation_p.P549L|RIMBP2_ENST00000535703.1_Missense_Mutation_p.P549L	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	641	Pro-rich.					cell junction|synapse				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		GCCCACGGGCGGCTCCAGCAT	0.711													16	16					0	0	1	0	0	A	130921520	G	A	130921520	3	1	309	1	0	0	0	0	1	0	0	0	13413	1116	39	1	1276	1	RIMBP2	12	130921520	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	1355015	130921520	2930375	395	29677											
RIMBP2	23504	broad.mit.edu	37	12	130927121	130927121	+	Missense_Mutation	SNP	G	G	A	rs147881182	byFrequency	TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr12:130927121G>A	ENST00000261655.4	-	8	888	c.725C>T	c.(724-726)aCg>aTg	p.T242M	RIMBP2_ENST00000536002.1_Missense_Mutation_p.T150M|RIMBP2_ENST00000535703.1_Missense_Mutation_p.T150M	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	242						cell junction|synapse				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		GTTCCCCAGCGTGCTTGCCAA	0.592													30	118					0	0	1	0	0	A	130927121	G	A	130927121	3	1	309	1	0	0	0	0	1	0	0	0	13413	1145	40	1	2481	1	RIMBP2	12	130927121	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	5601	130927121	2924774	396	29678											
POLE	5426	broad.mit.edu	37	12	133214643	133214643	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr12:133214643G>A	ENST00000320574.5	-	41	5678	c.5635C>T	c.(5635-5637)Cgt>Tgt	p.R1879C	POLE_ENST00000535270.1_Missense_Mutation_p.R1852C|POLE_ENST00000434528.3_5'UTR	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	1879					base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		TCTTCCACACGGCGCTTCTTT	0.547								DNA polymerases (catalytic subunits)					21	129					0	0	1	0	0	A	133214643	G	A	133214643	3	1	309	1	0	0	0	0	1	0	0	0	12244	1116	39	1	1261	1	POLE	12	133214643	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	2287522	133214643	637252	397	29679											
POLE	5426	broad.mit.edu	37	12	133250239	133250239	+	Silent	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr12:133250239G>A	ENST00000320574.5	-	13	1324	c.1281C>T	c.(1279-1281)gcC>gcT	p.A427A	POLE_ENST00000535270.1_Silent_p.A400A	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	427					base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		TGGCCTTGGCGGCCGCCTTGA	0.582								DNA polymerases (catalytic subunits)					124	209					0	0	1	0	0	A	133250239	G	A	133250239	2	1	309	1	0	0	0	0	0	0	0	1	12244	1103	39	1		1	POLE	12	133250239	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	35596	133250239	601656	398	29680											
POLE	5426	broad.mit.edu	37	12	133254167	133254167	+	Silent	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr12:133254167G>A	ENST00000320574.5	-	7	760	c.717C>T	c.(715-717)caC>caT	p.H239H	POLE_ENST00000535270.1_Silent_p.H212H	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	239					base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		CACTCACCACGTGGATCTTCA	0.498								DNA polymerases (catalytic subunits)					26	57					0	0	1	0	0	A	133254167	G	A	133254167	2	1	309	1	0	0	0	0	0	0	0	1	12244	1136	40	1		1	POLE	12	133254167	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	3928	133254167	597728	399	29681											
CDC16	8881	broad.mit.edu	37	13	115016143	115016143	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr13:115016143T>C	ENST00000360383.3	+	12	1289	c.1091T>C	c.(1090-1092)aTg>aCg	p.M364T	CDC16_ENST00000375308.1_Missense_Mutation_p.M270T|CDC16_ENST00000252458.6_Missense_Mutation_p.M270T|CDC16_ENST00000252457.5_Missense_Mutation_p.M363T|CDC16_ENST00000356221.3_Missense_Mutation_p.M364T|CDC16_ENST00000375310.1_Missense_Mutation_p.M270T|CDC16_ENST00000375312.3_Missense_Mutation_p.M270T	NM_001078645.1|NM_003903.3	NP_001072113.1|NP_003894.3	Q13042	CDC16_HUMAN	cell division cycle 16	364					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cell proliferation|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	binding			endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238)	BRCA - Breast invasive adenocarcinoma(86;0.0886)			GCACAGCTGATGAAAGGGTAC	0.428													53	17					0	0	1	0	0	C	115016143	T	C	115016143	3	2	309	1	0	0	0	0	1	0	0	0	3080	1464	51	3	1137	3	CDC16	13	115016143	Missense_Mutation	SNP	T	TCGA-HT-8564-01A-11D-2395-08		115016143	153735	400	29682											
TEP1	7011	broad.mit.edu	37	14	20846220	20846220	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr14:20846220G>A	ENST00000262715.5	-	39	5724	c.5684C>T	c.(5683-5685)gCg>gTg	p.A1895V	TEP1_ENST00000545983.1_Missense_Mutation_p.A233V|TEP1_ENST00000556935.1_Missense_Mutation_p.A1787V	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	1895					telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		CTGGCAACCCGCATGCAGGAA	0.592													91	34					0	0	1	0	0	A	20846220	G	A	20846220	3	1	309	1	0	0	0	0	1	0	0	0	15818	1087	38	1	2267	1	TEP1	14	20846220	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08		20846220	86503320	401	29683											
NDRG2	57447	broad.mit.edu	37	14	21486616	21486616	+	Splice_Site	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr14:21486616C>T	ENST00000556147.1	-	13	1801	c.861G>A	c.(859-861)aaG>aaA	p.K287K	NDRG2_ENST00000397844.2_Intron|NDRG2_ENST00000298684.5_Splice_Site_p.K244K|NDRG2_ENST00000397858.1_Splice_Site_p.K287K|NDRG2_ENST00000553503.1_Splice_Site_p.K273K|NDRG2_ENST00000350792.3_Splice_Site_p.K273K|NDRG2_ENST00000397856.3_Intron|NDRG2_ENST00000554104.1_Splice_Site_p.K200K|NDRG2_ENST00000298687.5_Splice_Site_p.K287K|NDRG2_ENST00000554143.1_Splice_Site_p.K273K|NDRG2_ENST00000397851.2_Splice_Site_p.K287K|NDRG2_ENST00000360463.3_Splice_Site_p.K273K|NDRG2_ENST00000397847.2_Splice_Site_p.K276K|NDRG2_ENST00000403829.3_Splice_Site_p.K283K|NDRG2_ENST00000555158.1_Splice_Site_p.K273K|NDRG2_ENST00000397853.3_Splice_Site_p.K287K|NDRG2_ENST00000397855.3_Splice_Site_p.K244K			Q9UN36	NDRG2_HUMAN	NDRG family member 2	287					cell differentiation|nervous system development	centrosome|cytosol|Golgi apparatus|nucleus|perinuclear region of cytoplasm				breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	23	all_cancers(95;0.00185)		OV - Ovarian serous cystadenocarcinoma(11;6.85e-11)|Epithelial(56;9.49e-09)|all cancers(55;3.84e-08)	GBM - Glioblastoma multiforme(265;0.0191)		GGTTACTGACCTTGAGGAACG	0.572													5	37					0	0	1	0	0	T	21486616	C	T	21486616	5	4	309	1	0	0	0	0	0	0	1	0	10299	695	24	2	270	2	NDRG2	14	21486616	Splice_Site	SNP	C	TCGA-HT-8564-01A-11D-2395-08	640396	21486616	85862924	402	29684											
IRF9	10379	broad.mit.edu	37	14	24629769	24629769	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr14:24629769G>A	ENST00000558468.1	+	13	1631	c.1631G>A	c.(1630-1632)cGc>cAc	p.R544H	RNF31_ENST00000559275.1_Missense_Mutation_p.R918H|RNF31_ENST00000382687.3_Missense_Mutation_p.R918H|RNF31_ENST00000324103.6_Missense_Mutation_p.R1069H																							AGTATCCCCCGCAGGCGGAAG	0.562											OREG0022619	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	22	17					0	0	1	0	0	A	24629769	G	A	24629769	3	1	309	1	0	0	0	0	1	0	0	0	7881	1087	38	1		1	IRF9	14	24629769	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	3143153	24629769	82719771	403	29685											
RABGGTA	5875	broad.mit.edu	37	14	24737796	24737796	+	Silent	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr14:24737796G>A	ENST00000399409.3	-	9	1413	c.930C>T	c.(928-930)aaC>aaT	p.N310N	RABGGTA_ENST00000560777.1_Intron|RABGGTA_ENST00000216840.6_Silent_p.N310N	NM_004581.5	NP_004572.3	Q92696	PGTA_HUMAN	Rab geranylgeranyltransferase, alpha subunit	310					visual perception		Rab geranylgeranyltransferase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)	12				GBM - Glioblastoma multiforme(265;0.0184)		GCAACTGGTCGTTGAGGGAGG	0.552													46	21					0	0	1	0	0	A	24737796	G	A	24737796	2	1	309	1	0	0	0	0	0	0	0	1	13019	1136	40	1		1	RABGGTA	14	24737796	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	108027	24737796	82611744	404	29686											
KHNYN	23351	broad.mit.edu	37	14	24901644	24901644	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr14:24901644G>A	ENST00000251343.5	+	3	1316	c.1177G>A	c.(1177-1179)Gca>Aca	p.A393T	KHNYN_ENST00000553935.1_Missense_Mutation_p.A393T|KHNYN_ENST00000556842.1_Missense_Mutation_p.A393T			O15037	KHNYN_HUMAN	KH and NYN domain containing	393										kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(3)	24						GCAGGGCATGGCACGGGGTCG	0.667											OREG0022627	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	51					0	0	1	0	0	A	24901644	G	A	24901644	3	1	309	1	0	0	0	0	1	0	0	0	8192	1203	42	2	1183	2	KHNYN	14	24901644	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	163848	24901644	82447896	405	29687											
FBXO34	55030	broad.mit.edu	37	14	55818984	55818984	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr14:55818984C>T	ENST00000313833.4	+	2	2121	c.1876C>T	c.(1876-1878)Cgc>Tgc	p.R626C	FBXO34_ENST00000440021.1_Missense_Mutation_p.R626C	NM_017943.3	NP_060413.2	Q9NWN3	FBX34_HUMAN	F-box protein 34	626										breast(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(3)	22						TCGAGATCCACGCTATAGAGA	0.478													54	34					0	0	1	0	0	T	55818984	C	T	55818984	3	4	309	1	0	0	0	0	1	0	0	0	5777	536	19	1	1878	1	FBXO34	14	55818984	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	30917340	55818984	51530556	406	29688											
C14orf37	145407	broad.mit.edu	37	14	58605364	58605364	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr14:58605364C>T	ENST00000267485.7	-	2	907	c.713G>A	c.(712-714)gGt>gAt	p.G238D	C14orf37_ENST00000334342.5_5'UTR	NM_001001872.2	NP_001001872.2	Q86TY3	CN037_HUMAN	chromosome 14 open reading frame 37	238						integral to membrane	binding			breast(7)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|skin(1)	33						GGACTCAGCACCAGGAAAAGA	0.498													57	32					0	0	1	0	0	T	58605364	C	T	58605364	3	4	309	1	0	0	0	0	1	0	0	0	1777	507	18	2	1639	2	C14orf37	14	58605364	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	2786380	58605364	48744176	407	29689											
SPTB	6710	broad.mit.edu	37	14	65253771	65253771	+	Missense_Mutation	SNP	G	G	A	rs138556050		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr14:65253771G>A	ENST00000389722.3	-	15	2965	c.2912C>T	c.(2911-2913)aCg>aTg	p.T971M	SPTB_ENST00000389720.3_Missense_Mutation_p.T971M|SPTB_ENST00000389721.5_Missense_Mutation_p.T971M|SPTB_ENST00000556626.1_Missense_Mutation_p.T971M|SPTB_ENST00000542895.1_Missense_Mutation_p.T971M	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	971					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton	p.T971M(2)		breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		TGTCTTGTCCGTGATCCACTT	0.592													42	10					0	0	1	0	0	A	65253771	G	A	65253771	3	1	309	1	0	0	0	0	1	0	0	0	15174	1145	40	1	4227	1	SPTB	14	65253771	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	6648407	65253771	42095769	408	29690											
PAPLN	89932	broad.mit.edu	37	14	73726060	73726060	+	Missense_Mutation	SNP	G	G	A	rs151048072		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr14:73726060G>A	ENST00000427855.1	+	16	1894	c.1792G>A	c.(1792-1794)Gac>Aac	p.D598N	PAPLN_ENST00000340738.5_Missense_Mutation_p.D571N|PAPLN_ENST00000381166.3_Missense_Mutation_p.D598N|PAPLN_ENST00000555445.1_Missense_Mutation_p.D598N|PAPLN_ENST00000554301.1_Missense_Mutation_p.D598N			O95428	PPN_HUMAN	papilin, proteoglycan-like sulfated glycoprotein	598						proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3)	42				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)		CCCCAGGGGCGACCAAGGCAC	0.672													57	28					0	0	1	0	0	A	73726060	G	A	73726060	3	1	309	1	0	0	0	0	1	0	0	0	11475	1058	37	1	1765	1	PAPLN	14	73726060	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	8472289	73726060	33623480	409	29691											
ESRRB	2103	broad.mit.edu	37	14	76905826	76905826	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr14:76905826G>A	ENST00000380887.2	+	2	202	c.130G>A	c.(130-132)Ggc>Agc	p.G44S	ESRRB_ENST00000509242.1_Missense_Mutation_p.G44S|ESRRB_ENST00000556177.1_Missense_Mutation_p.G44S|ESRRB_ENST00000507951.1_3'UTR|ESRRB_ENST00000261532.7_Missense_Mutation_p.G44S			A2VDJ2	A2VDJ2_HUMAN	estrogen-related receptor beta	44						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(2)|large_intestine(4)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(234;0.0213)		CGCCAGCGGCGGCTTTGGCCT	0.692													50	20					0	0	1	0	0	A	76905826	G	A	76905826	3	1	309	1	0	0	0	0	1	0	0	0	5289	1116	39	1	132	1	ESRRB	14	76905826	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	3179766	76905826	30443714	410	29692											
CCDC88C	440193	broad.mit.edu	37	14	91806240	91806240	+	Silent	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr14:91806240G>A	ENST00000389857.6	-	7	698	c.612C>T	c.(610-612)gaC>gaT	p.D204D		NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	204					microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway	cytoplasm|insoluble fraction	microtubule binding|PDZ domain binding|protein self-association			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				CGGTGCACTCGTCCCGCTGGT	0.677													3	7					0	0	1	0	0	A	91806240	G	A	91806240	2	1	309	1	0	0	0	0	0	0	0	1	2885	1136	40	1		1	CCDC88C	14	91806240	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	14900414	91806240	15543300	411	29693											
RIN3	79890	broad.mit.edu	37	14	93118358	93118358	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr14:93118358G>A	ENST00000216487.7	+	6	1123	c.964G>A	c.(964-966)Gtc>Atc	p.V322I	RIN3_ENST00000418924.2_3'UTR	NM_024832.3	NP_079108.3	Q8TB24	RIN3_HUMAN	Ras and Rab interactor 3	322	Pro-rich.				endocytosis|signal transduction	cytoplasmic membrane-bounded vesicle|early endosome	GTPase activator activity|Ras GTPase binding			endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36		all_cancers(154;0.0701)				tgcccccCACGTCACACCCCA	0.711													12	5					0	0	1	0	0	A	93118358	G	A	93118358	3	1	309	1	0	0	0	0	1	0	0	0	13425	1145	40	1	986	1	RIN3	14	93118358	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	1312118	93118358	14231182	412	29694											
AK7	122481	broad.mit.edu	37	14	96864584	96864584	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr14:96864584C>T	ENST00000267584.4	+	2	322	c.278C>T	c.(277-279)gCg>gTg	p.A93V	AK7_ENST00000555570.1_Missense_Mutation_p.A93V|AK7_ENST00000554313.1_3'UTR	NM_152327.3	NP_689540.2	Q96M32	KAD7_HUMAN	adenylate kinase 7	93					cell projection organization	cytosol	adenylate kinase activity|ATP binding|cytidylate kinase activity			breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)		CCTGACTTTGCGGTGGAGACG	0.547													50	34					0	0	1	0	0	T	96864584	C	T	96864584	3	4	309	1	0	0	0	0	1	0	0	0	441	768	27	1	284	1	AK7	14	96864584	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	3746226	96864584	10484956	413	29695											
TDRD9	122402	broad.mit.edu	37	14	104490932	104490932	+	Missense_Mutation	SNP	C	C	T	rs139118201	by1000genomes	TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr14:104490932C>T	ENST00000409874.4	+	25	2681	c.2633C>T	c.(2632-2634)aCg>aTg	p.T878M	TDRD9_ENST00000339063.5_Missense_Mutation_p.T878M	NM_153046.2	NP_694591.2	Q8NDG6	TDRD9_HUMAN	tudor domain containing 9	878					cell differentiation|DNA methylation involved in gamete generation|fertilization|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	nucleus|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0768)				CAGAAGCAGACGGTAGATCCT	0.343													38	26					0	0	1	0	0	T	104490932	C	T	104490932	3	4	309	1	0	0	0	0	1	0	0	0	15795	536	19	1	2731	1	TDRD9	14	104490932	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	7626348	104490932	2858608	414	29696											
TJP1	7082	broad.mit.edu	37	15	30003072	30003072	+	Silent	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr15:30003072C>T	ENST00000346128.6	-	24	4809	c.4335G>A	c.(4333-4335)gcG>gcA	p.A1445A	TJP1_ENST00000356107.6_Silent_p.A1445A|TJP1_ENST00000545208.2_Silent_p.A1365A|TJP1_ENST00000400011.2_Silent_p.A1369A	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN	tight junction protein 1	1445					cell-cell junction assembly|cellular component disassembly involved in apoptosis	basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		TGTGGAGAGACGCGCTGGTGA	0.498													56	256					0	0	1	0	0	T	30003072	C	T	30003072	2	4	309	1	0	0	0	0	0	0	0	1	15989	523	19	1		1	TJP1	15	30003072	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08		30003072	72528320	415	29697											
ZNF770	54989	broad.mit.edu	37	15	35274621	35274621	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr15:35274621delT	ENST00000356321.4	-	3	1359	c.1015delA	c.(1015-1017)atcfs	p.I339fs		NM_014106.3	NP_054825.2	Q6IQ21	ZN770_HUMAN	zinc finger protein 770	339					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)	29		Lung NSC(122;4.59e-10)|all_lung(180;8.78e-09)		all cancers(64;1.97e-18)|GBM - Glioblastoma multiforme(113;2.11e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0643)		TTGGCCAAGATTTTTTTAACA	0.328													11	26	---	---	---	---						-	35274621	T	-	35274621	7	5	309	1	0	1	0	1	0	0	0	0	18193	1493	52	0	1064	0	ZNF770	15	35274621	Frame_Shift_Del	DEL	T	TCGA-HT-8564-01A-11D-2395-08	5271549	35274621	67256771	416	29698											
ZFYVE19	84936	broad.mit.edu	37	15	41102150	41102150	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr15:41102150C>T	ENST00000355341.4	+	4	1054	c.553C>T	c.(553-555)Cgc>Tgc	p.R185C	ZFYVE19_ENST00000570108.1_Missense_Mutation_p.R162C|ZFYVE19_ENST00000336455.5_Missense_Mutation_p.R175C|ZFYVE19_ENST00000564258.1_Missense_Mutation_p.R10C|ZFYVE19_ENST00000299173.10_Missense_Mutation_p.R185C	NM_001077268.1	NP_001070736.1	Q96K21	ZFY19_HUMAN	zinc finger, FYVE domain containing 19	185							zinc ion binding	p.R185C(3)		endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	9		all_cancers(109;3.31e-18)|all_epithelial(112;2.33e-15)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;2.76e-05)|COAD - Colon adenocarcinoma(120;0.151)|BRCA - Breast invasive adenocarcinoma(123;0.164)		AGCACGACTCCGCCAGGAGAA	0.602													45	72					0	0	1	0	0	T	41102150	C	T	41102150	3	4	309	1	0	0	0	0	1	0	0	0	17723	652	23	1	567	1	ZFYVE19	15	41102150	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	5827529	41102150	61429242	417	29699											
SQRDL	58472	broad.mit.edu	37	15	45974846	45974846	+	Silent	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr15:45974846C>T	ENST00000260324.7	+	7	1421	c.1035C>T	c.(1033-1035)acC>acT	p.T345T	SQRDL_ENST00000568606.1_Silent_p.T345T	NM_021199.3	NP_067022.1	Q9Y6N5	SQRD_HUMAN	sulfide quinone reductase-like (yeast)	345							oxidoreductase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	11		Lung NSC(122;0.000117)|all_lung(180;0.000737)|Melanoma(134;0.0417)		all cancers(107;5.89e-18)|GBM - Glioblastoma multiforme(94;1.21e-06)|COAD - Colon adenocarcinoma(120;0.17)|Colorectal(133;0.188)		CGTCAAAGACCGCTGCTGCAG	0.478													51	76					0	0	1	0	0	T	45974846	C	T	45974846	2	4	309	1	0	0	0	0	0	0	0	1	15185	639	23	1		1	SQRDL	15	45974846	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	4872696	45974846	56556546	418	29700											
PIGB	9488	broad.mit.edu	37	15	55647590	55647590	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr15:55647590G>A	ENST00000164305.5	+	12	1916	c.1625G>A	c.(1624-1626)cGg>cAg	p.R542Q	DYX1C1-CCPG1_ENST00000565113.1_RNA|CCPG1_ENST00000310958.6_3'UTR|CCPG1_ENST00000442196.3_3'UTR|PIGB_ENST00000539642.1_Missense_Mutation_p.R347Q	NM_004855.4	NP_004846.4	Q92521	PIGB_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class B	542					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	integral to membrane|intrinsic to endoplasmic reticulum membrane	glycolipid mannosyltransferase activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	11				all cancers(107;0.0255)		GTCTATGAACGGAAGTTAAAA	0.358													11	98					0	0	1	0	0	A	55647590	G	A	55647590	3	1	309	1	0	0	0	0	1	0	0	0	11933	1116	39	1	1671	1	PIGB	15	55647590	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	9672744	55647590	46883802	419	29701											
IQCH	64799	broad.mit.edu	37	15	67629360	67629360	+	Silent	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr15:67629360G>A	ENST00000335894.4	+	5	501	c.435G>A	c.(433-435)acG>acA	p.T145T	IQCH_ENST00000546225.1_5'UTR|IQCH_ENST00000358767.3_5'UTR	NM_001031715.2	NP_001026885	Q86VS3	IQCH_HUMAN	IQ motif containing H	145										NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1)	33				Colorectal(3;0.0856)		CCAGCCTCACGGTTCTGCCAT	0.383													8	134					0	0	1	0	0	A	67629360	G	A	67629360	2	1	309	1	0	0	0	0	0	0	0	1	7855	1103	39	1		1	IQCH	15	67629360	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	11981770	67629360	34902032	420	29702											
UACA	55075	broad.mit.edu	37	15	70991907	70991907	+	Silent	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr15:70991907C>T	ENST00000322954.6	-	2	356	c.171G>A	c.(169-171)aaG>aaA	p.K57K	UACA_ENST00000539319.1_Silent_p.K57K|UACA_ENST00000560441.1_Silent_p.K44K|UACA_ENST00000379983.2_Silent_p.K44K	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and ankyrin repeats	57						cytoskeleton|extracellular region				breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						GATTGACCCCCTTTTTAGCAA	0.403													65	90					0	0	1	0	0	T	70991907	C	T	70991907	2	4	309	1	0	0	0	0	0	0	0	1	16885	680	24	2		2	UACA	15	70991907	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	3362547	70991907	31539485	421	29703											
IL16	3603	broad.mit.edu	37	15	81592468	81592469	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr15:81592468_81592469insC	ENST00000394660.2	+	14	3161_3162	c.2801_2802insC	c.(2800-2805)ctccccfs	p.LP934fs	IL16_ENST00000394652.2_Frame_Shift_Ins_p.LP233fs|IL16_ENST00000302987.4_Frame_Shift_Ins_p.LP934fs	NM_001172128.1|NM_172217.3	NP_001165599.1|NP_757366.2	Q14005	IL16_HUMAN	interleukin 16	934				L -> F (in Ref. 1; AAD04636).	immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						CAGAAAACTCTCCCCCCTGGCC	0.644													10	157	---	---	---	---						C	81592469	-	C	81592468	7	5	309	1	0	1	1	0	0	0	0	0	7677	1551	54	0	2851	0	IL16	15	81592468	Frame_Shift_Ins	INS	-	TCGA-HT-8564-01A-11D-2395-08	10600561	81592468	20938924	422	29704											
ADAMTSL3	57188	broad.mit.edu	37	15	84651306	84651306	+	Missense_Mutation	SNP	G	G	A	rs150618994		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr15:84651306G>A	ENST00000286744.5	+	21	3150	c.2926G>A	c.(2926-2928)Gac>Aac	p.D976N	ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.D976N	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	976	Ig-like C2-type 1.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			TGCTGCCCCCGACATCGGCGT	0.567													68	116					0	0	1	0	0	A	84651306	G	A	84651306	3	1	309	1	0	0	0	0	1	0	0	0	275	1058	37	1	3004	1	ADAMTSL3	15	84651306	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	3058838	84651306	17880086	423	29705											
ALPK3	57538	broad.mit.edu	37	15	85382932	85382932	+	Splice_Site	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr15:85382932G>A	ENST00000258888.5	+	5	1195		c.e5-1			NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3						heart development	nucleus	ATP binding|protein serine/threonine kinase activity			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			CCTACCTCTAGGTGTCGAGAA	0.647													53	103					0	0	1	0	0	A	85382932	G	A	85382932	5	1	309	1	0	0	0	0	0	0	1	0	542	1014	35	2	1046	2	ALPK3	15	85382932	Splice_Site	SNP	G	TCGA-HT-8564-01A-11D-2395-08	731626	85382932	17148460	424	29706											
ALPK3	57538	broad.mit.edu	37	15	85403041	85403041	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr15:85403041G>A	ENST00000258888.5	+	8	4773	c.4606G>A	c.(4606-4608)Gtg>Atg	p.V1536M		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	1536	Ig-like 2.				heart development	nucleus	ATP binding|protein serine/threonine kinase activity			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			CTTGGCCATCGTGCAGGCCTC	0.657													36	42					0	0	1	0	0	A	85403041	G	A	85403041	3	1	309	1	0	0	0	0	1	0	0	0	542	1145	40	1	4636	1	ALPK3	15	85403041	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	20109	85403041	17128351	425	29707											
AGBL1	123624	broad.mit.edu	37	15	86800128	86800128	+	Silent	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr15:86800128G>A	ENST00000441037.2	+	7	737	c.642G>A	c.(640-642)gtG>gtA	p.V214V	AGBL1_ENST00000421325.2_Silent_p.V214V	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	214					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						TCTCTGTGGTGCTTCAGATCC	0.562													8	39					0	0	1	0	0	A	86800128	G	A	86800128	2	1	309	1	0	0	0	0	0	0	0	1	372	1306	46	2		2	AGBL1	15	86800128	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	1397087	86800128	15731264	426	29708											
KIF7	374654	broad.mit.edu	37	15	90176401	90176401	+	Missense_Mutation	SNP	C	C	T	rs149548398		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr15:90176401C>T	ENST00000394412.3	-	13	2765	c.2689G>A	c.(2689-2691)Ggc>Agc	p.G897S		NM_198525.2	NP_940927.2	Q2M1P5	KIF7_HUMAN	kinesin family member 7	897					microtubule-based movement|negative regulation of smoothened signaling pathway|positive regulation of smoothened signaling pathway	cilium	ATP binding|microtubule motor activity|protein binding			central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	25	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)			ACCACAGAGCCGTTGCTGCCA	0.622													6	20					0	0	1	0	0	T	90176401	C	T	90176401	3	4	309	1	0	0	0	0	1	0	0	0	8351	652	23	1	1370	1	KIF7	15	90176401	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	3376273	90176401	12354991	427	29709											
MAN2A2	4122	broad.mit.edu	37	15	91455396	91455396	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr15:91455396G>A	ENST00000360468.3	+	14	2251	c.2233G>A	c.(2233-2235)Gtc>Atc	p.V745I	MAN2A2_ENST00000559717.1_Missense_Mutation_p.V745I|MAN2A2_ENST00000431652.2_Missense_Mutation_p.V253I	NM_006122.2	NP_006113.2	P49641	MA2A2_HUMAN	mannosidase, alpha, class 2A, member 2	745					mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			GCAGCTGTCCGTCAGCAGGCA	0.647													45	170					0	0	1	0	0	A	91455396	G	A	91455396	3	1	309	1	0	0	0	0	1	0	0	0	9265	1145	40	1	2287	1	MAN2A2	15	91455396	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	1278995	91455396	11075996	428	29710											
CHD2	1106	broad.mit.edu	37	15	93489391	93489391	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr15:93489391T>C	ENST00000394196.4	+	12	2390	c.1322T>C	c.(1321-1323)aTt>aCt	p.I441T	CHD2_ENST00000557381.1_Missense_Mutation_p.I441T|CHD2_ENST00000420239.2_Missense_Mutation_p.I441T|CHD2_ENST00000536619.1_Missense_Mutation_p.I454T	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	441	Chromo 2.				regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			CAGAATTGCATTGACAGCTTC	0.418													49	67					0	0	1	0	0	C	93489391	T	C	93489391	3	2	309	1	0	0	0	0	1	0	0	0	3347	1493	52	3	1364	3	CHD2	15	93489391	Missense_Mutation	SNP	T	TCGA-HT-8564-01A-11D-2395-08	2033995	93489391	9042001	429	29711											
LRRK1	79705	broad.mit.edu	37	15	101567987	101567987	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr15:101567987G>A	ENST00000284395.5	+	20	3062	c.2662G>A	c.(2662-2664)Gag>Aag	p.E888K	LRRK1_ENST00000388948.3_Missense_Mutation_p.E891K			Q38SD2	LRRK1_HUMAN	leucine-rich repeat kinase 1	891					small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CAAGGACTACGAGGACCTGCA	0.617													5	10					0	0	1	0	0	A	101567987	G	A	101567987	3	1	309	1	0	0	0	0	1	0	0	0	9077	1059	37	1	2741	1	LRRK1	15	101567987	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	8078596	101567987	963405	430	29712											
MSLN	10232	broad.mit.edu	37	16	814961	814961	+	Silent	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr16:814961G>A	ENST00000566549.1	+	7	852	c.435G>A	c.(433-435)acG>acA	p.T145T	MSLN_ENST00000545450.2_Silent_p.T145T|MSLN_ENST00000563941.1_Silent_p.T145T|MSLN_ENST00000382862.3_Silent_p.T145T			Q13421	MSLN_HUMAN	mesothelin	145					cell adhesion	anchored to membrane|extracellular region|Golgi apparatus|plasma membrane				breast(2)|kidney(2)|lung(11)|pancreas(1)|prostate(1)|skin(3)	20		Hepatocellular(780;0.00335)				CCCGCATCACGAAGGCCAATG	0.701													11	34					0	0	1	0	0	A	814961	G	A	814961	2	1	309	1	0	0	0	0	0	0	0	1	9929	1045	37	1		1	MSLN	16	814961	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08		814961	89539792	431	29713											
RPUSD1	113000	broad.mit.edu	37	16	836114	836114	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr16:836114C>T	ENST00000561734.1	-	5	1018	c.775G>A	c.(775-777)Gac>Aac	p.D259N	RPUSD1_ENST00000007264.2_Missense_Mutation_p.D259N|RPUSD1_ENST00000565809.1_3'UTR|RPUSD1_ENST00000567114.1_Missense_Mutation_p.D130N			Q9UJJ7	RUSD1_HUMAN	RNA pseudouridylate synthase domain containing 1	259	Pro-rich.				pseudouridine synthesis		pseudouridine synthase activity|RNA binding			endometrium(3)|lung(2)|skin(2)	7		Hepatocellular(780;0.00335)				GGGTCAGGGTCGGGGGTGGCC	0.726													51	38					0	0	1	0	0	T	836114	C	T	836114	3	4	309	1	0	0	0	0	1	0	0	0	13718	884	31	1	167	1	RPUSD1	16	836114	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	21153	836114	89518639	432	29714											
PRR25	388199	broad.mit.edu	37	16	855739	855739	+	Silent	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr16:855739G>A	ENST00000301698.1	+	1	297	c.297G>A	c.(295-297)ccG>ccA	p.P99P		NM_001013638.1	NP_001013660.1	Q96S07	PRR25_HUMAN	proline rich 25	99										large_intestine(1)|lung(1)|skin(1)	3						CAGCGCAGCCGCTCGCAAATG	0.647													19	26					0	0	1	0	0	A	855739	G	A	855739	2	1	309	1	0	0	0	0	0	0	0	1	12647	1074	38	1		1	PRR25	16	855739	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	19625	855739	89499014	433	29715											
CACNA1H	8912	broad.mit.edu	37	16	1250283	1250283	+	Silent	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr16:1250283G>A	ENST00000348261.5	+	7	1079	c.831G>A	c.(829-831)ccG>ccA	p.P277P	CACNA1H_ENST00000358590.4_Silent_p.P277P|CACNA1H_ENST00000565831.1_Silent_p.P277P	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	277					aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	TCCTGCGGCCGTACTACCAGA	0.632													3	25					0	0	1	0	0	A	1250283	G	A	1250283	2	1	309	1	0	0	0	0	0	0	0	1	2563	1132	40	1		1	CACNA1H	16	1250283	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	394544	1250283	89104470	434	29716											
TPSAB1	7177	broad.mit.edu	37	16	1292148	1292148	+	Silent	SNP	C	C	T	rs147278526	byFrequency	TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr16:1292148C>T	ENST00000461509.2	+	5	950	c.756C>T	c.(754-756)ggC>ggT	p.G252G	TPSAB1_ENST00000338844.3_Silent_p.G245G			P20231	TRYB2_HUMAN	tryptase alpha/beta 1	245	Peptidase S1.				proteolysis	extracellular region	protein binding|serine-type endopeptidase activity			NS(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|skin(1)	10		Hepatocellular(780;0.00369)				TCAGCTGGGGCGAGGGCTGTG	0.657													11	36					0	0	1	0	0	T	1292148	C	T	1292148	2	4	309	1	0	0	0	0	0	0	0	1	16484	755	27	1		1	TPSAB1	16	1292148	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	41865	1292148	89062605	435	29717											
RAB26	25837	broad.mit.edu	37	16	2202854	2202854	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr16:2202854C>T	ENST00000210187.6	+	6	662	c.502C>T	c.(502-504)Cac>Tac	p.H168Y	RAB26_ENST00000541451.1_Missense_Mutation_p.H102Y	NM_014353.4	NP_055168.2	Q9ULW5	RAB26_HUMAN	RAB26, member RAS oncogene family	168					exocrine system development|protein transport|regulation of exocytosis|small GTPase mediated signal transduction	intrinsic to plasma membrane	GTP binding|protein binding			kidney(1)|large_intestine(1)|lung(3)	5						GTACGCCCAGCACGACGTGGC	0.687													17	47					0	0	1	0	0	T	2202854	C	T	2202854	3	4	309	1	0	0	0	0	1	0	0	0	12965	710	25	2	524	2	RAB26	16	2202854	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	910706	2202854	88151899	436	29718											
ABCA3	21	broad.mit.edu	37	16	2367755	2367755	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr16:2367755C>T	ENST00000301732.5	-	9	1584	c.884G>A	c.(883-885)cGc>cAc	p.R295H	ABCA3_ENST00000382381.3_Missense_Mutation_p.R295H	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	295					response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)				CCCCATCATGCGCATGTACTC	0.627													51	62					0	0	1	0	0	T	2367755	C	T	2367755	3	4	309	1	0	0	0	0	1	0	0	0	33	768	27	1	4330	1	ABCA3	16	2367755	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	164901	2367755	87986998	437	29719											
NTN3	4917	broad.mit.edu	37	16	2522004	2522004	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr16:2522004C>T	ENST00000293973.1	+	1	505	c.302C>T	c.(301-303)gCg>gTg	p.A101V		NM_006181.2	NP_006172.1	O00634	NET3_HUMAN	netrin 3	101	Laminin N-terminal.				axon guidance|muscle cell differentiation|positive regulation of muscle cell differentiation	proteinaceous extracellular matrix				breast(1)|central_nervous_system(2)|lung(3)|prostate(1)	7						CTGCCTCGGGCGCCCCTCAAC	0.706													15	53					0	0	1	0	0	T	2522004	C	T	2522004	3	4	309	1	0	0	0	0	1	0	0	0	10749	768	27	1	304	1	NTN3	16	2522004	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	154249	2522004	87832749	438	29720											
NTN3	4917	broad.mit.edu	37	16	2522180	2522180	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr16:2522180C>T	ENST00000293973.1	+	1	681	c.478C>T	c.(478-480)Cgt>Tgt	p.R160C		NM_006181.2	NP_006172.1	O00634	NET3_HUMAN	netrin 3	160	Laminin N-terminal.				axon guidance|muscle cell differentiation|positive regulation of muscle cell differentiation	proteinaceous extracellular matrix				breast(1)|central_nervous_system(2)|lung(3)|prostate(1)	7						GGACTATGGCCGTCTGCCTGC	0.697													18	44					0	0	1	0	0	T	2522180	C	T	2522180	3	4	309	1	0	0	0	0	1	0	0	0	10749	652	23	1	480	1	NTN3	16	2522180	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	176	2522180	87832573	439	29721											
ZNF205	7755	broad.mit.edu	37	16	3169669	3169669	+	Silent	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr16:3169669C>T	ENST00000382192.3	+	7	1213	c.1008C>T	c.(1006-1008)taC>taT	p.Y336Y	RP11-473M20.14_ENST00000575139.1_RNA|RP11-473M20.14_ENST00000576490.1_RNA|ZNF205_ENST00000219091.4_Silent_p.Y336Y	NM_001278158.1|NM_003456.2	NP_001265087.1|NP_003447.2	O95201	ZN205_HUMAN	zinc finger protein 205	336					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	20						AGAAGCCCTACGCCTGCACTG	0.682													86	89					0	0	1	0	0	T	3169669	C	T	3169669	2	4	309	1	0	0	0	0	0	0	0	1	17822	547	19	1		1	ZNF205	16	3169669	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	647489	3169669	87185084	440	29722											
ABAT	18	broad.mit.edu	37	16	8858658	8858658	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr16:8858658G>A	ENST00000396600.2	+	8	1449	c.511G>A	c.(511-513)Gcc>Acc	p.A171T	ABAT_ENST00000268251.8_Missense_Mutation_p.A171T|ABAT_ENST00000425191.2_Missense_Mutation_p.A171T|ABAT_ENST00000567812.1_Missense_Mutation_p.A186T|ABAT_ENST00000569156.1_Missense_Mutation_p.A171T	NM_000663.4	NP_000654.2	P80404	GABT_HUMAN	4-aminobutyrate aminotransferase	171				MSQLITMACGSCSNENA -> CPSSSPWPACPAPMKTT (in Ref. 2; AAB38510).	behavioral response to cocaine|gamma-aminobutyric acid catabolic process|neurotransmitter catabolic process|neurotransmitter secretion	4-aminobutyrate transaminase complex|mitochondrial matrix	(S)-3-amino-2-methylpropionate transaminase activity|4-aminobutyrate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|succinate-semialdehyde dehydrogenase binding	p.A171T(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	26					Divalproex sodium(DB00510)|Isoniazid(DB00951)|L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)|Tiagabine(DB00906)|Valproic Acid(DB00313)|Vigabatrin(DB01080)	CAATGAAAACGCCTTAAAGAC	0.592													25	97					0	0	1	0	0	A	8858658	G	A	8858658	3	1	309	1	0	0	0	0	1	0	0	0	27	1087	38	1	537	1	ABAT	16	8858658	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	5688989	8858658	81496095	441	29723											
KIAA0430	9665	broad.mit.edu	37	16	15711316	15711316	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr16:15711316G>A	ENST00000396368.3	-	14	3003	c.2797C>T	c.(2797-2799)Cgg>Tgg	p.R933W	KIAA0430_ENST00000344181.3_Missense_Mutation_p.R575W|KIAA0430_ENST00000551742.1_Missense_Mutation_p.R933W|KIAA0430_ENST00000540441.2_Missense_Mutation_p.R768W|KIAA0430_ENST00000602337.1_Missense_Mutation_p.R930W|KIAA0430_ENST00000548025.1_Missense_Mutation_p.R930W	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	LKAP_HUMAN	KIAA0430	932						peroxisome	nucleotide binding|RNA binding			breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						CACACCAGCCGTCCGTTTCCT	0.512													16	56					0	0	1	0	0	A	15711316	G	A	15711316	3	1	309	1	0	0	0	0	1	0	0	0	8219	1144	40	1	2487	1	KIAA0430	16	15711316	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	6852658	15711316	74643437	442	29724											
NDE1	54820	broad.mit.edu	37	16	15758701	15758701	+	Silent	SNP	G	G	A	rs143820142		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr16:15758701G>A	ENST00000396355.1	+	3	892	c.66G>A	c.(64-66)gcG>gcA	p.A22A	NDE1_ENST00000396354.1_Silent_p.A22A|NDE1_ENST00000396353.2_Silent_p.A22A|NDE1_ENST00000342673.5_Silent_p.A22A	NM_001143979.1	NP_001137451.1	Q9NXR1	NDE1_HUMAN	nudE neurodevelopment protein 1	22	Self-association (By similarity).				cell differentiation|cell division|centrosome duplication|establishment of chromosome localization|establishment of mitotic spindle orientation|G2/M transition of mitotic cell cycle|mitotic prometaphase|nervous system development	cleavage furrow|condensed chromosome kinetochore|cytosol|microtubule|spindle pole centrosome	microtubule binding			endometrium(3)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)	13						AAGATCTGGCGATGACCTACA	0.473													90	80					0	0	1	0	0	A	15758701	G	A	15758701	2	1	309	1	0	0	0	0	0	0	0	1	10290	1045	37	1		1	NDE1	16	15758701	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	47385	15758701	74596052	443	29725											
DNAH3	55567	broad.mit.edu	37	16	21049298	21049298	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr16:21049298C>T	ENST00000261383.3	-	34	4734	c.4735G>A	c.(4735-4737)Gcc>Acc	p.A1579T	DNAH3_ENST00000415178.1_Missense_Mutation_p.A1579T	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1579	AAA 1 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		ATCTTCTGGGCGAGACTAGAA	0.552													4	45					0	0	1	0	0	T	21049298	C	T	21049298	3	4	309	1	0	0	0	0	1	0	0	0	4631	768	27	1	7730	1	DNAH3	16	21049298	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	5290597	21049298	69305455	444	29726											
IL21R	50615	broad.mit.edu	37	16	27445714	27445714	+	Silent	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr16:27445714G>A	ENST00000337929.3	+	3	569	c.96G>A	c.(94-96)acG>acA	p.T32T	IL21R_ENST00000395755.1_Silent_p.T32T|IL21R_ENST00000395754.4_Silent_p.T32T|IL21R_ENST00000564089.1_Silent_p.T32T	NM_181078.2	NP_851564.1	Q9HBE5	IL21R_HUMAN	interleukin 21 receptor	32					natural killer cell activation	integral to membrane	interleukin-21 receptor activity			breast(2)|large_intestine(3)|lung(1)|ovary(2)	8						ACCTCCAGACGGTCATCTGCA	0.632			T	BCL6	NHL								46	43					0	0	1	0	0	A	27445714	G	A	27445714	2	1	309	1	0	0	0	0	0	0	0	1	7715	1103	39	1		1	IL21R	16	27445714	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	6396416	27445714	62909039	445	29727											
SEZ6L2	26470	broad.mit.edu	37	16	29900012	29900012	+	Silent	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr16:29900012C>T	ENST00000308713.5	-	6	1415	c.888G>A	c.(886-888)ccG>ccA	p.P296P	SEZ6L2_ENST00000562159.1_5'UTR|SEZ6L2_ENST00000350527.3_Silent_p.P226P|SEZ6L2_ENST00000537485.1_Silent_p.P252P|SEZ6L2_ENST00000346932.5_Silent_p.P182P	NM_001114099.2|NM_201575.3	NP_001107571.1|NP_963869.2	Q6UXD5	SE6L2_HUMAN	seizure related 6 homolog (mouse)-like 2	296	Sushi 1.					endoplasmic reticulum membrane|integral to membrane|plasma membrane				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CCCCATGGGCCGGCCGGGGAG	0.637													14	75					0	0	1	0	0	T	29900012	C	T	29900012	2	4	309	1	0	0	0	0	0	0	0	1	14198	639	23	1		1	SEZ6L2	16	29900012	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	2454298	29900012	60454741	446	29728											
C16orf92	146378	broad.mit.edu	37	16	30035371	30035371	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr16:30035371C>T	ENST00000300575.2	+	3	362	c.341C>T	c.(340-342)gCg>gTg	p.A114V		NM_001109659.1|NM_001109660.1	NP_001103129.1|NP_001103130.1	Q96LL3	CP092_HUMAN	chromosome 16 open reading frame 92	114						integral to membrane				breast(3)|lung(3)	6						CTGGTGGTGGCGTTCTTCTTT	0.582													63	74					0	0	1	0	0	T	30035371	C	T	30035371	3	4	309	1	0	0	0	0	1	0	0	0	1852	768	27	1	365	1	C16orf92	16	30035371	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	135359	30035371	60319382	447	29729											
TRIM72	493829	broad.mit.edu	37	16	31230620	31230620	+	Missense_Mutation	SNP	G	G	A	rs140684083	by1000genomes	TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr16:31230620G>A	ENST00000322122.3	+	4	781	c.497G>A	c.(496-498)cGt>cAt	p.R166H		NM_001008274.3	NP_001008275.2	Q6ZMU5	TRI72_HUMAN	tripartite motif containing 72	166					exocytosis|muscle organ development|muscle system process|plasma membrane repair|protein homooligomerization	cytoplasmic vesicle membrane|sarcolemma	phosphatidylserine binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(2)|lung(9)|skin(1)	15						GAGACAGTGCGTCAGTTCCGG	0.647													40	134					0	0	1	0	0	A	31230620	G	A	31230620	3	1	309	1	0	0	0	0	1	0	0	0	16606	1145	40	1	507	1	TRIM72	16	31230620	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	1195249	31230620	59124133	448	29730											
C16orf58	64755	broad.mit.edu	37	16	31512031	31512031	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr16:31512031C>T	ENST00000327237.2	-	3	476	c.437G>A	c.(436-438)cGc>cAc	p.R146H	C16orf58_ENST00000430477.2_Missense_Mutation_p.R4H|C16orf58_ENST00000567994.1_Missense_Mutation_p.R101H|C16orf58_ENST00000570164.1_Missense_Mutation_p.R146H			Q96GQ5	CP058_HUMAN	chromosome 16 open reading frame 58	146						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)	14						AAAGACGATGCGGCCCAGCAT	0.542													14	54					0	0	1	0	0	T	31512031	C	T	31512031	3	4	309	1	0	0	0	0	1	0	0	0	1829	768	27	1	1013	1	C16orf58	16	31512031	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	281411	31512031	58842722	449	29731											
CHD9	80205	broad.mit.edu	37	16	53190078	53190078	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr16:53190078C>T	ENST00000566029.1	+	2	286	c.77C>T	c.(76-78)gCa>gTa	p.A26V	CHD9_ENST00000447540.1_Missense_Mutation_p.A26V|CHD9_ENST00000398510.3_Missense_Mutation_p.A26V|CHD9_ENST00000564845.1_Missense_Mutation_p.A26V			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	26					cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				TCAGATGATGCATTTGTACAA	0.388													6	45					0	0	1	0	0	T	53190078	C	T	53190078	3	4	309	1	0	0	0	0	1	0	0	0	3354	710	25	2	79	2	CHD9	16	53190078	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	21678047	53190078	37164675	450	29732											
CHD9	80205	broad.mit.edu	37	16	53260306	53260307	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr16:53260306_53260307insA	ENST00000566029.1	+	5	2134_2135	c.1925_1926insA	c.(1924-1929)agaaaafs	p.RK642fs	CHD9_ENST00000398510.3_Frame_Shift_Ins_p.RK642fs|CHD9_ENST00000447540.1_Frame_Shift_Ins_p.RK642fs|CHD9_ENST00000564845.1_Frame_Shift_Ins_p.RK642fs			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	642	Lys-rich.				cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				CAAATTAAAAGAAAAAAATACG	0.292													8	28	---	---	---	---						A	53260307	-	A	53260306	7	5	309	1	0	1	1	0	0	0	0	0	3354	942	33	0	1939	0	CHD9	16	53260306	Frame_Shift_Ins	INS	-	TCGA-HT-8564-01A-11D-2395-08	70228	53260306	37094447	451	29733											
LPCAT2	54947	broad.mit.edu	37	16	55613052	55613052	+	Missense_Mutation	SNP	C	C	T	rs142090669	byFrequency	TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr16:55613052C>T	ENST00000262134.5	+	13	1530	c.1346C>T	c.(1345-1347)aCg>aTg	p.T449M	LPCAT2_ENST00000565056.1_3'UTR	NM_017839.4	NP_060309.2	Q7L5N7	PCAT2_HUMAN	lysophosphatidylcholine acyltransferase 2	449	EF-hand 2.				cellular membrane organization|platelet activating factor biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|Golgi stack|integral to membrane	1-acylglycerophosphocholine O-acyltransferase activity|1-alkylglycerophosphocholine O-acetyltransferase activity|calcium ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	12						GGCTACATAACGGAGGAAGAG	0.433													19	131					0	0	1	0	0	T	55613052	C	T	55613052	3	4	309	1	0	0	0	0	1	0	0	0	8956	536	19	1	1396	1	LPCAT2	16	55613052	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	2352746	55613052	34741701	452	29734											
CDH5	1003	broad.mit.edu	37	16	66424460	66424460	+	Silent	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr16:66424460C>T	ENST00000341529.3	+	6	1084	c.936C>T	c.(934-936)ccC>ccT	p.P312P	CDH5_ENST00000563425.2_Silent_p.P312P	NM_001795.3	NP_001786.2	P33151	CADH5_HUMAN	cadherin 5, type 2 (vascular endothelium)	312	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity	integral to membrane|membrane fraction	beta-catenin binding|calcium ion binding|ion channel binding|receptor binding			central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54		Ovarian(137;0.0955)		OV - Ovarian serous cystadenocarcinoma(108;0.107)		AGACAAACCCCGCCCACAACG	0.557													53	47					0	0	1	0	0	T	66424460	C	T	66424460	2	4	309	1	0	0	0	0	0	0	0	1	3135	639	23	1		1	CDH5	16	66424460	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	10811408	66424460	23930293	453	29735											
TRADD	8717	broad.mit.edu	37	16	67188655	67188655	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr16:67188655C>T	ENST00000345057.4	-	5	1304	c.836G>A	c.(835-837)cGc>cAc	p.R279H	TRADD_ENST00000486556.1_Missense_Mutation_p.R219H	NM_003789.3	NP_003780.1	Q15628	TRADD_HUMAN	TNFRSF1A-associated via death domain	279	Death.|Interaction with KRT14 and KRT18.				activation of caspase activity|activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|tumor necrosis factor-mediated signaling pathway	cytoskeleton|cytosol|receptor complex	binding, bridging|death domain binding|identical protein binding|kinase binding|signal transducer activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1)	11		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184)		CAGCGTGGCGCGGCGGCCCTC	0.706													7	19					0	0	1	0	0	T	67188655	C	T	67188655	3	4	309	1	0	0	0	0	1	0	0	0	16497	768	27	1	106	1	TRADD	16	67188655	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	764195	67188655	23166098	454	29736											
SLC9A5	6553	broad.mit.edu	37	16	67289369	67289369	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr16:67289369G>A	ENST00000299798.11	+	4	793	c.728G>A	c.(727-729)gGa>gAa	p.G243E	SLC9A5_ENST00000561472.2_3'UTR	NM_004594.2	NP_004585.1	Q14940	SL9A5_HUMAN	solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5	243					regulation of pH	integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)		TACCTGAAGGGAGTCGGTCAG	0.587													56	60					0	0	1	0	0	A	67289369	G	A	67289369	3	1	309	1	0	0	0	0	1	0	0	0	14772	1174	41	2	742	2	SLC9A5	16	67289369	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	100714	67289369	23065384	455	29737											
FAM65A	79567	broad.mit.edu	37	16	67572573	67572575	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr16:67572573_67572575delAGG	ENST00000379312.3	+	3	236_238	c.115_117delAGG	c.(115-117)aggdel	p.R39del	FAM65A_ENST00000422602.2_Splice_Site_p.K55del|FAM65A_ENST00000042381.4_Splice_Site_p.K35del|FAM65A_ENST00000540839.3_Splice_Site_p.K55del|FAM65A_ENST00000566522.1_Intron|FAM65A_ENST00000428437.2_Splice_Site_p.K49del|CTD-2012K14.2_ENST00000567122.1_RNA	NM_001193522.1|NM_024519.3	NP_001180451.1|NP_078795.2	Q6ZS17	FA65A_HUMAN	family with sequence similarity 65, member A	39						cytoplasm	binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)		CCTCTCCTTCAGGAGTTTCCCGG	0.66													87	91	---	---	---	---						-	67572575	AGG	-	67572573	7	5	309	1	0	1	0	1	0	0	0	0	5634	202	7	0	109	0	FAM65A	16	67572573	In_Frame_Del	DEL	AGG	TCGA-HT-8564-01A-11D-2395-08	283204	67572573	22782180	456	29738											
CENPT	80152	broad.mit.edu	37	16	67863714	67863714	+	Silent	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr16:67863714G>A	ENST00000562787.1	-	12	1688	c.1140C>T	c.(1138-1140)gaC>gaT	p.D380D	CENPT_ENST00000564817.1_Intron|CENPT_ENST00000440851.2_Silent_p.D380D|CENPT_ENST00000219172.3_Silent_p.D380D	NM_025082.3	NP_079358.3	Q96BT3	CENPT_HUMAN	centromere protein T	380					mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleus	DNA binding			NS(1)|breast(2)|lung(6)|urinary_tract(1)	10		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00429)|Epithelial(162;0.019)|all cancers(182;0.124)		CTCCTGGCCCGTCAGCCTCAG	0.612													57	149					0	0	1	0	0	A	67863714	G	A	67863714	2	1	309	1	0	0	0	0	0	0	0	1	3264	1136	40	1		1	CENPT	16	67863714	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	291141	67863714	22491039	457	29739											
DDX19A	55308	broad.mit.edu	37	16	70400563	70400563	+	Silent	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr16:70400563C>T	ENST00000302243.7	+	9	982	c.819C>T	c.(817-819)tcC>tcT	p.S273S	DDX19A_ENST00000417604.2_Silent_p.S242S|DDX19A_ENST00000443119.2_Silent_p.S183S	NM_018332.3	NP_060802.1			DEAD (Asp-Glu-Ala-Asp) box polypeptide 19A											breast(1)|endometrium(1)|large_intestine(5)|lung(3)|urinary_tract(1)	11		Ovarian(137;0.221)				TGCTTTTCTCCGCCACCTTTG	0.562													43	92					0	0	1	0	0	T	70400563	C	T	70400563	2	4	309	1	0	0	0	0	0	0	0	1	4369	639	23	1		1	DDX19A	16	70400563	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	2536849	70400563	19954190	458	29740											
MARVELD3	91862	broad.mit.edu	37	16	71674814	71674814	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr16:71674814G>A	ENST00000299952.4	+	3	1160	c.1117G>A	c.(1117-1119)Gcc>Acc	p.A373T	PHLPP2_ENST00000540628.1_3'UTR|MARVELD3_ENST00000561682.1_Intron|MARVELD3_ENST00000565261.1_3'UTR	NM_001017967.3|NM_001271329.1	NP_001017967.2|NP_001258258.1	Q96A59	MALD3_HUMAN	MARVEL domain containing 3	376	MARVEL.					integral to membrane				NS(1)|endometrium(3)|large_intestine(5)|lung(6)|skin(2)	17		Ovarian(137;0.125)				CATGTACGGCGCCAGCGTGGT	0.597													35	38					0	0	1	0	0	A	71674814	G	A	71674814	3	1	309	1	0	0	0	0	1	0	0	0	9369	1087	38	1	1742	1	MARVELD3	16	71674814	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	1274251	71674814	18679939	459	29741											
DHX38	9785	broad.mit.edu	37	16	72130788	72130788	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr16:72130788C>T	ENST00000268482.3	+	3	900	c.391C>T	c.(391-393)Cgc>Tgc	p.R131C	DHX38_ENST00000536867.1_Intron	NM_014003.3	NP_054722.2	Q92620	PRP16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 38	131					mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|nucleoplasm	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			endometrium(5)|kidney(1)|large_intestine(16)|lung(15)|pancreas(1)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	48		Ovarian(137;0.125)				GTTTTGGGAACGCAGTCGGCA	0.547													148	154					0	0	1	0	0	T	72130788	C	T	72130788	3	4	309	1	0	0	0	0	1	0	0	0	4539	536	19	1	397	1	DHX38	16	72130788	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	455974	72130788	18223965	460	29742											
DHX38	9785	broad.mit.edu	37	16	72133711	72133711	+	Silent	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr16:72133711C>T	ENST00000268482.3	+	8	1550	c.1041C>T	c.(1039-1041)taC>taT	p.Y347Y	DHX38_ENST00000536867.1_Intron	NM_014003.3	NP_054722.2	Q92620	PRP16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 38	347					mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|nucleoplasm	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			endometrium(5)|kidney(1)|large_intestine(16)|lung(15)|pancreas(1)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	48		Ovarian(137;0.125)				CCGAGGACTACGTGAGGAGGC	0.577											OREG0023926	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	31	19					0	0	1	0	0	T	72133711	C	T	72133711	2	4	309	1	0	0	0	0	0	0	0	1	4539	547	19	1		1	DHX38	16	72133711	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	2923	72133711	18221042	461	29743											
ATMIN	23300	broad.mit.edu	37	16	81076800	81076801	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr16:81076800_81076801delTG	ENST00000566488.1	+	3	1192_1193	c.229_230delTG	c.(229-231)tgtfs	p.C77fs	ATMIN_ENST00000564241.1_Frame_Shift_Del_p.C77fs|ATMIN_ENST00000539819.1_3'UTR|ATMIN_ENST00000299575.4_Frame_Shift_Del_p.C233fs			O43313	ATMIN_HUMAN	ATM interactor	233					response to DNA damage stimulus	nucleus	zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	20						AATGGAAAACTGTGCACAAAAC	0.376													22	70	---	---	---	---						-	81076801	TG	-	81076800	7	5	309	1	0	1	0	1	0	0	0	0	1109	1580	55	0	711	0	ATMIN	16	81076800	Frame_Shift_Del	DEL	TG	TCGA-HT-8564-01A-11D-2395-08	8943089	81076800	9277953	462	29744											
CDT1	81620	broad.mit.edu	37	16	88873762	88873762	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr16:88873762G>A	ENST00000301019.4	+	9	1968	c.1349G>A	c.(1348-1350)cGc>cAc	p.R450H		NM_030928.3	NP_112190.2	Q9H211	CDT1_HUMAN	chromatin licensing and DNA replication factor 1	450					DNA replication|DNA replication checkpoint|M/G1 transition of mitotic cell cycle|regulation of DNA-dependent DNA replication initiation|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle	cytosol|nucleoplasm	DNA binding|protein binding			central_nervous_system(1)|endometrium(2)|kidney(1)|lung(3)	7				BRCA - Breast invasive adenocarcinoma(80;0.0476)		CGGCTGCAGCGCTTAGAACGG	0.657													34	41					0	0	1	0	0	A	88873762	G	A	88873762	3	1	309	1	0	0	0	0	1	0	0	0	3202	1087	38	1	1383	1	CDT1	16	88873762	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	7796962	88873762	1480991	463	29745											
CBFA2T3	863	broad.mit.edu	37	16	88958664	88958664	+	Silent	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr16:88958664C>T	ENST00000268679.4	-	4	1005	c.609G>A	c.(607-609)gtG>gtA	p.V203V	CBFA2T3_ENST00000360302.2_Silent_p.V117V|CBFA2T3_ENST00000448839.1_Silent_p.V127V|CBFA2T3_ENST00000327483.5_Silent_p.V117V|CBFA2T3_ENST00000436887.2_Silent_p.V178V	NM_005187.5	NP_005178.4	O75081	MTG16_HUMAN	core-binding factor, runt domain, alpha subunit 2; translocated to, 3	203	Mediates interaction with PDE7A (in isoform 2).|Mediates localization to the nucleus (By similarity).|TAFH.				cell proliferation|granulocyte differentiation	Golgi membrane|nucleolus|nucleoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.V203V(1)		endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17				BRCA - Breast invasive adenocarcinoma(80;0.0275)		CCAGGCCCAGCACCAGTGTGC	0.627			T	RUNX1	AML								20	63					0	0	1	0	0	T	88958664	C	T	88958664	2	4	309	1	0	0	0	0	0	0	0	1	2716	697	25	2		2	CBFA2T3	16	88958664	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	84902	88958664	1396089	464	29746											
CDH15	1013	broad.mit.edu	37	16	89256813	89256813	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr16:89256813C>T	ENST00000289746.2	+	8	1206	c.1141C>T	c.(1141-1143)Cgg>Tgg	p.R381W		NM_004933.2	NP_004924.1	P55291	CAD15_HUMAN	cadherin 15, type 1, M-cadherin (myotubule)	381	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	calcium ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(80;0.0261)		GAACCCACTTCGGACCAGCCT	0.687													6	27					0	0	1	0	0	T	89256813	C	T	89256813	3	4	309	1	0	0	0	0	1	0	0	0	3122	875	31	1	1171	1	CDH15	16	89256813	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	298149	89256813	1097940	465	29747											
ANKRD11	29123	broad.mit.edu	37	16	89347172	89347172	+	Silent	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr16:89347172C>T	ENST00000301030.4	-	9	6238	c.5778G>A	c.(5776-5778)ccG>ccA	p.P1926P	ANKRD11_ENST00000378330.2_Silent_p.P1926P	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	1926	Pro-rich.					nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		AGCTGGGCTCCGGGGGGATGA	0.711													10	101					0	0	1	0	0	T	89347172	C	T	89347172	2	4	309	1	0	0	0	0	0	0	0	1	635	639	23	1		1	ANKRD11	16	89347172	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	90359	89347172	1007581	466	29748											
SPG7	6687	broad.mit.edu	37	16	89614459	89614459	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr16:89614459G>A	ENST00000268704.2	+	12	1616	c.1601G>A	c.(1600-1602)cGg>cAg	p.R534Q		NM_003119.2	NP_003110.1	Q9UQ90	SPG7_HUMAN	spastic paraplegia 7 (pure and complicated autosomal recessive)	534					cell death|nervous system development|protein catabolic process|proteolysis	integral to membrane|mitochondrial membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|urinary_tract(1)	20		all_hematologic(23;0.00824)|Colorectal(91;0.102)		all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015)		CACGCGGCGCGGGAGGGACAC	0.642													49	221					0	0	1	0	0	A	89614459	G	A	89614459	3	1	309	1	0	0	0	0	1	0	0	0	15100	1116	39	1	1797	1	SPG7	16	89614459	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	267287	89614459	740294	467	29749											
SGSM2	9905	broad.mit.edu	37	17	2265510	2265510	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr17:2265510C>T	ENST00000268989.3	+	4	581	c.404C>T	c.(403-405)gCg>gTg	p.A135V	SGSM2_ENST00000426855.2_Missense_Mutation_p.A135V|SGSM2_ENST00000574563.1_Missense_Mutation_p.A135V	NM_014853.2	NP_055668.2	O43147	SGSM2_HUMAN	small G protein signaling modulator 2	135	RUN.					intracellular	Rab GTPase activator activity			biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(2;5.15e-05)|READ - Rectum adenocarcinoma(2;0.000115)		GTACGCACGGCGCTCATCGAG	0.637													46	149					0	0	1	0	0	T	2265510	C	T	2265510	3	4	309	1	0	0	0	0	1	0	0	0	14277	768	27	1	418	1	SGSM2	17	2265510	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08		2265510	78929700	468	29750											
OR1D2	4991	broad.mit.edu	37	17	2995776	2995776	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr17:2995776C>T	ENST00000331459.1	-	1	514	c.515G>A	c.(514-516)cGa>cAa	p.R172Q		NM_002548.2	NP_002539.2	P34982	OR1D2_HUMAN	olfactory receptor, family 1, subfamily D, member 2	172					cellular component movement|chemotaxis|protein import into nucleus, translocation|sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity			kidney(2)|large_intestine(2)|lung(10)|ovary(1)	15						GTGGATTTTTCGTGACCCACA	0.468													52	17					0	0	1	0	0	T	2995776	C	T	2995776	3	4	309	1	0	0	0	0	1	0	0	0	11001	884	31	1	426	1	OR1D2	17	2995776	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	730266	2995776	78199434	469	29751											
ZZEF1	23140	broad.mit.edu	37	17	3999984	3999984	+	Silent	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr17:3999984C>T	ENST00000381638.2	-	10	1807	c.1683G>A	c.(1681-1683)acG>acA	p.T561T	ZZEF1_ENST00000574474.1_5'UTR	NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	561							calcium ion binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						TTCCAGTTTCCGTAAGAAAAC	0.368													89	27					0	0	1	0	0	T	3999984	C	T	3999984	2	4	309	1	0	0	0	0	0	0	0	1	18295	639	23	1		1	ZZEF1	17	3999984	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	1004208	3999984	77195226	470	29752											
GGT6	124975	broad.mit.edu	37	17	4461802	4461802	+	Silent	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr17:4461802G>A	ENST00000301395.3	-	3	953	c.894C>T	c.(892-894)tcC>tcT	p.S298S	GGT6_ENST00000574154.1_Silent_p.S330S|GGT6_ENST00000381550.3_Silent_p.S336S|GGT6_ENST00000573591.1_Silent_p.S182S	NM_153338.2	NP_699169.2	Q6P531	GGT6_HUMAN	gamma-glutamyltransferase 6	330					glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity			endometrium(2)|large_intestine(1)|lung(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						TGGGCGCCCCGGAGCGCAGGG	0.692													3	13					0	0	1	0	0	A	4461802	G	A	4461802	2	1	309	1	0	0	0	0	0	0	0	1	6405	1103	39	1		1	GGT6	17	4461802	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	461818	4461802	76733408	471	29753											
CHRNE	1145	broad.mit.edu	37	17	4804399	4804399	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr17:4804399C>T	ENST00000293780.4	-	7	698	c.688G>A	c.(688-690)Gtc>Atc	p.V230I	C17orf107_ENST00000381365.3_3'UTR|CHRNE_ENST00000575637.1_5'UTR	NM_000080.3	NP_000071.1	Q04844	ACHE_HUMAN	cholinergic receptor, nicotinic, epsilon (muscle)	230					muscle contraction|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	p.V230F(1)		central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(3)|prostate(1)	12						GAGTAGATGACGTCAGTCTCC	0.652													114	62					0	0	1	0	0	T	4804399	C	T	4804399	3	4	309	1	0	0	0	0	1	0	0	0	3417	536	19	1	817	1	CHRNE	17	4804399	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	342597	4804399	76390811	472	29754											
GPS2	2874	broad.mit.edu	37	17	7216932	7216935	+	Frame_Shift_Del	DEL	AGTG	AGTG	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr17:7216932_7216935delAGTG	ENST00000380728.2	-	7	886_889	c.586_589delCACT	c.(586-591)cactatfs	p.HY196fs	GPS2_ENST00000391950.3_Frame_Shift_Del_p.HY196fs|GPS2_ENST00000389167.5_Frame_Shift_Del_p.HY196fs|RP11-542C16.2_ENST00000575474.1_3'UTR			Q13227	GPS2_HUMAN	G protein pathway suppressor 2	196					cell cycle|inactivation of MAPK activity|JNK cascade|negative regulation of JNK cascade|negative regulation of transcription from RNA polymerase II promoter	transcriptional repressor complex	GTPase inhibitor activity|protein binding|transcription corepressor activity			breast(1)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(4)	24		Prostate(122;0.157)				GTGGGCCCATAGTGAGGTGGGGGC	0.574											OREG0024133	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	103	38	---	---	---	---						-	7216935	AGTG	-	7216932	7	5	309	1	0	1	0	1	0	0	0	0	6774	420	15	0	414	0	GPS2	17	7216932	Frame_Shift_Del	DEL	AGTG	TCGA-HT-8564-01A-11D-2395-08	2412533	7216932	73978278	473	29755											
TP53	7157	broad.mit.edu	37	17	7577138	7577138	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr17:7577138C>T	ENST00000420246.2	-	8	932	c.800G>A	c.(799-801)cGg>cAg	p.R267Q	TP53_ENST00000455263.2_Missense_Mutation_p.R267Q|TP53_ENST00000359597.4_Missense_Mutation_p.R267Q|TP53_ENST00000269305.4_Missense_Mutation_p.R267Q|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.R267Q	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	267	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> G (in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in sporadic cancers; somatic mutation; dbSNP:rs55832599).		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.R267P(17)|p.R267Q(10)|p.0?(8)|p.R267L(6)|p.N268fs*77(3)|p.?(3)|p.G262_F270delGNLLGRNSF(2)|p.G266_E271delGRNSFE(2)|p.G262_S269delGNLLGRNS(2)|p.G266fs*4(1)|p.L265_K305del41(1)|p.E258fs*71(1)|p.L265_R267delLGR(1)|p.G266_N268delGRN(1)|p.G262fs*2(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)		AAAGCTGTTCCGTCCCAGTAG	0.527		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)			40	14					0	0	1	0	0	T	7577138	C	T	7577138	3	4	309	1	0	0	0	0	1	0	0	0	16442	652	23	1	486	1	TP53	17	7577138	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	360206	7577138	73618072	474	29756											
TP53	7157	broad.mit.edu	37	17	7578463	7578463	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr17:7578463C>T	ENST00000420246.2	-	5	599	c.467G>A	c.(466-468)cGc>cAc	p.R156H	TP53_ENST00000455263.2_Missense_Mutation_p.R156H|TP53_ENST00000359597.4_Missense_Mutation_p.R156H|TP53_ENST00000269305.4_Missense_Mutation_p.R156H|TP53_ENST00000413465.2_Missense_Mutation_p.R156H|TP53_ENST00000445888.2_Missense_Mutation_p.R156H	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	156	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> 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.R156P(24)|p.R156H(10)|p.0?(8)|p.?(5)|p.R156L(3)|p.R156_I162delRVRAMAI(2)|p.T155fs*23(2)|p.P153fs*22(2)|p.T155_R156delTR(1)|p.R156_A161delRVRAMA(1)|p.P151_V173del23(1)|p.R156del(1)|p.R156_R158delRVR(1)|p.R156fs*12(1)|p.R156fs*14(1)|p.R156fs*18(1)|p.R156_A161del(1)|p.R156_V157del(1)|p.D148fs*23(1)|p.S149fs*72(1)|p.T155_A161delTRVRAMA(1)|p.G154fs*22(1)|p.R156fs*25(1)|p.G154_R156delGTR(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)		GGCGCGGACGCGGGTGCCGGG	0.612		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)			72	24					0	0	1	0	0	T	7578463	C	T	7578463	3	4	309	1	0	0	0	0	1	0	0	0	16442	768	27	1	831	1	TP53	17	7578463	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	1325	7578463	73616747	475	29757											
KCNAB3	9196	broad.mit.edu	37	17	7829255	7829255	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr17:7829255delC	ENST00000303790.2	-	6	487	c.488delG	c.(487-489)ggafs	p.G164fs	RP11-1099M24.7_ENST00000573621.1_3'UTR	NM_004732.3	NP_004723.2	O43448	KCAB3_HUMAN	potassium voltage-gated channel, shaker-related subfamily, beta member 3	164						cytoplasm|integral to membrane	oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity			breast(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)	8		Prostate(122;0.157)				TTACTGTCCTCCCCAAAAAAT	0.498													10	201	---	---	---	---						-	7829255	C	-	7829255	7	5	309	1	0	1	0	1	0	0	0	0	8055	855	30	0	762	0	KCNAB3	17	7829255	Frame_Shift_Del	DEL	C	TCGA-HT-8564-01A-11D-2395-08	250792	7829255	73365955	476	29758											
PFAS	5198	broad.mit.edu	37	17	8167651	8167651	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr17:8167651G>A	ENST00000314666.6	+	16	2046	c.1913G>A	c.(1912-1914)cGg>cAg	p.R638Q	PFAS_ENST00000545834.1_Missense_Mutation_p.R214Q	NM_012393.2	NP_036525.1	O15067	PUR4_HUMAN	phosphoribosylformylglycinamidine synthase	638					'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process	cytosol	ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding			central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	AAGATGCCTCGGAAGGTATGT	0.622													48	11					0	0	1	0	0	A	8167651	G	A	8167651	3	1	309	1	0	0	0	0	1	0	0	0	11802	1116	39	1	1971	1	PFAS	17	8167651	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	338396	8167651	73027559	477	29759											
MYH8	4626	broad.mit.edu	37	17	10299869	10299869	+	Splice_Site	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr17:10299869C>T	ENST00000403437.2	-	32	4623		c.e32+1		CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal						muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						TGAGGACTCACGTTGCAAGTT	0.463									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				33	14					0	0	1	0	0	T	10299869	C	T	10299869	5	4	309	1	0	0	0	0	0	0	1	0	10089	550	19	1	1320	1	MYH8	17	10299869	Splice_Site	SNP	C	TCGA-HT-8564-01A-11D-2395-08	2132218	10299869	70895341	478	29760											
DNAH9	1770	broad.mit.edu	37	17	11660881	11660881	+	Silent	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr17:11660881G>A	ENST00000262442.4	+	35	6935	c.6867G>A	c.(6865-6867)ccG>ccA	p.P2289P	DNAH9_ENST00000454412.2_Silent_p.P2289P	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9		AAA 2 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		ACATCAACCCGGCAGACTTGG	0.428													16	62					0	0	1	0	0	A	11660881	G	A	11660881	2	1	309	1	0	0	0	0	0	0	0	1	4635	1103	39	1		1	DNAH9	17	11660881	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	1361012	11660881	69534329	479	29761											
DNAH9	1770	broad.mit.edu	37	17	11711063	11711063	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr17:11711063G>A	ENST00000262442.4	+	44	8503	c.8435G>A	c.(8434-8436)cGc>cAc	p.R2812H	DNAH9_ENST00000454412.2_Missense_Mutation_p.R2812H	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9		AAA 4 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CATATCAATCGCATCTTGGAG	0.532													8	111					0	0	1	0	0	A	11711063	G	A	11711063	3	1	309	1	0	0	0	0	1	0	0	0	4635	1087	38	1	8609	1	DNAH9	17	11711063	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	50182	11711063	69484147	480	29762											
TRPV2	51393	broad.mit.edu	37	17	16336966	16336966	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr17:16336966G>A	ENST00000338560.7	+	13	2467	c.2068G>A	c.(2068-2070)Gtt>Att	p.V690I	TRPV2_ENST00000577397.1_Missense_Mutation_p.V260I	NM_016113.4	NP_057197.2	Q9Y5S1	TRPV2_HUMAN	transient receptor potential cation channel, subfamily V, member 2	690					sensory perception	integral to plasma membrane|melanosome	calcium channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|stomach(3)	28				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		GATGCTGACCGTTGGCACTAA	0.592													39	145					0	0	1	0	0	A	16336966	G	A	16336966	3	1	309	1	0	0	0	0	1	0	0	0	16657	1145	40	1	2114	1	TRPV2	17	16336966	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	4625903	16336966	64858244	481	29763											
ALDH3A1	218	broad.mit.edu	37	17	19641649	19641649	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr17:19641649delG	ENST00000457500.2	-	9	1663	c.1334delC	c.(1333-1335)ccgfs	p.P445fs	ALDH3A1_ENST00000494157.2_Frame_Shift_Del_p.P372fs|ALDH3A1_ENST00000444455.1_Frame_Shift_Del_p.P445fs|ALDH3A1_ENST00000225740.6_Frame_Shift_Del_p.P445fs|RP11-311F12.2_ENST00000580884.1_RNA|ALDH3A1_ENST00000395555.3_Frame_Shift_Del_p.P381fs	NM_001135168.1	NP_001128640.1	P30838	AL3A1_HUMAN	aldehyde dehydrogenase 3 family, member A1	445					cellular aldehyde metabolic process	cytosol|endoplasmic reticulum	alcohol dehydrogenase (NADP+) activity|aldehyde dehydrogenase|aldehyde dehydrogenase (NAD) activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|urinary_tract(1)	13	all_cancers(12;4.01e-05)|all_epithelial(12;0.00301)|Breast(13;0.186)			Colorectal(15;0.0829)	NADH(DB00157)	GGCCGGGCTCGGGGGGTATCT	0.627													139	68	---	---	---	---						-	19641649	G	-	19641649	7	5	309	1	0	1	0	1	0	0	0	0	494	1116	39	0	35	0	ALDH3A1	17	19641649	Frame_Shift_Del	DEL	G	TCGA-HT-8564-01A-11D-2395-08	3304683	19641649	61553561	482	29764											
KCNJ12	3768	broad.mit.edu	37	17	21319341	21319341	+	Silent	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr17:21319341C>T	ENST00000583088.1	+	3	1582	c.687C>T	c.(685-687)cgC>cgT	p.R229R	KCNJ12_ENST00000331718.5_Silent_p.R229R	NM_021012.4	NP_066292.2			potassium inwardly-rectifying channel, subfamily J, member 12									p.R229R(2)		NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)		CCCATGTGCGCGCGCAGCTCA	0.642										Prostate(3;0.18)			28	65					0	0	1	0	0	T	21319341	C	T	21319341	2	4	309	1	0	0	0	0	0	0	0	1	8090	755	27	1		1	KCNJ12	17	21319341	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	1677692	21319341	59875869	483	29765											
NEK8	284086	broad.mit.edu	37	17	27065189	27065189	+	Missense_Mutation	SNP	G	G	A	rs138066977		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr17:27065189G>A	ENST00000268766.6	+	8	1182	c.1148G>A	c.(1147-1149)cGt>cAt	p.R383H	AC010761.6_ENST00000584779.1_RNA	NM_178170.2	NP_835464.1	Q86SG6	NEK8_HUMAN	NIMA-related kinase 8	383						cytoplasm|primary cilium	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Lung NSC(42;0.0158)					TTCATCTCGCGTTTCCTGGAG	0.657													18	51					0	0	1	0	0	A	27065189	G	A	27065189	3	1	309	1	0	0	0	0	1	0	0	0	10377	1145	40	1	1178	1	NEK8	17	27065189	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	5745848	27065189	54130021	484	29766											
NF1	4763	broad.mit.edu	37	17	29562657	29562660	+	Frame_Shift_Del	DEL	TGTT	TGTT	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr17:29562657_29562660delTGTT	ENST00000358273.4	+	28	4120_4123	c.3737_3740delTGTT	c.(3736-3741)ctgtttfs	p.LF1246fs	NF1_ENST00000356175.3_Frame_Shift_Del_p.LF1246fs	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1246	Ras-GAP.				actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(4)|p.F1247fs*16(1)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		CTGGTTACTCTGTTTGATTCTCGG	0.412			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			236	87	---	---	---	---						-	29562660	TGTT	-	29562657	7	5	309	1	0	1	0	1	0	0	0	0	10403	1580	55	0	3908	0	NF1	17	29562657	Frame_Shift_Del	DEL	TGTT	TCGA-HT-8564-01A-11D-2395-08	2497468	29562657	51632553	485	29767											
FBXL20	84961	broad.mit.edu	37	17	37420470	37420471	+	Frame_Shift_Del	DEL	AT	AT	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr17:37420470_37420471delAT	ENST00000264658.6	-	14	1420_1421	c.1160_1161delAT	c.(1159-1161)tatfs	p.Y387fs	FBXL20_ENST00000394294.3_Frame_Shift_Del_p.Y355fs|FBXL20_ENST00000583610.1_Frame_Shift_Del_p.Y387fs|FBXL20_ENST00000577399.1_Frame_Shift_Del_p.Y389fs	NM_032875.2	NP_116264.2	Q96IG2	FXL20_HUMAN	F-box and leucine-rich repeat protein 20	387						cytoplasm				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22			LUAD - Lung adenocarcinoma(14;0.146)			GCTGGCAGTCATAGAGTTCTAT	0.48													166	77	---	---	---	---						-	37420471	AT	-	37420470	7	5	309	1	0	1	0	1	0	0	0	0	5750	224	8	0	157	0	FBXL20	17	37420470	Frame_Shift_Del	DEL	AT	TCGA-HT-8564-01A-11D-2395-08	7857813	37420470	43774740	486	29768											
ERBB2	2064	broad.mit.edu	37	17	37866098	37866098	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr17:37866098C>T	ENST00000406381.2	+	7	1027	c.517C>T	c.(517-519)Cgc>Tgc	p.R173C	ERBB2_ENST00000584450.1_Missense_Mutation_p.R203C|ERBB2_ENST00000269571.5_Missense_Mutation_p.R203C|ERBB2_ENST00000578199.1_Missense_Mutation_p.R173C|ERBB2_ENST00000445658.2_Intron|ERBB2_ENST00000584601.1_Missense_Mutation_p.R173C|ERBB2_ENST00000540147.1_Missense_Mutation_p.R173C|ERBB2_ENST00000541774.1_Missense_Mutation_p.R188C|ERBB2_ENST00000540042.1_Missense_Mutation_p.R173C	NM_001005862.1	NP_001005862.1	P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	203					cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)	TAAGGGCTCCCGCTGCTGGGG	0.597		1	"A, Mis, O"		"breast, ovarian, other tumour types, NSCLC, gastric"					TCGA GBM(5;<1E-08)			74	18					0	0	1	0	0	T	37866098	C	T	37866098	3	4	309	1	0	0	0	0	1	0	0	0	5234	652	23	1	625	1	ERBB2	17	37866098	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	445628	37866098	43329112	487	29769											
TUBG1	7283	broad.mit.edu	37	17	40766567	40766567	+	Silent	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr17:40766567G>A	ENST00000251413.3	+	10	1112	c.1050G>A	c.(1048-1050)ccG>ccA	p.P350P		NM_001070.4	NP_001061.2	P23258	TBG1_HUMAN	tubulin, gamma 1	350					G2/M transition of mitotic cell cycle|meiotic spindle organization|protein polymerization	condensed nuclear chromosome|cytosol|gamma-tubulin complex|polar microtubule	GTP binding|GTPase activity|protein binding|structural constituent of cytoskeleton			endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.129)		ACTTCATCCCGTGGGGCCCCG	0.652													108	25					0	0	1	0	0	A	40766567	G	A	40766567	2	1	309	1	0	0	0	0	0	0	0	1	16826	1132	40	1		1	TUBG1	17	40766567	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	2900469	40766567	40428643	488	29770											
PLEKHH3	79990	broad.mit.edu	37	17	40820242	40820244	+	In_Frame_Del	DEL	GGA	GGA	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr17:40820242_40820244delGGA	ENST00000293349.6	-	13	2704_2706	c.2274_2276delTCC	c.(2272-2277)cctcca>cca	p.758_759PP>P	PLEKHH3_ENST00000591022.1_In_Frame_Del_p.761_762PP>P|PLEKHH3_ENST00000412503.1_In_Frame_Del_p.584_585PP>P|PLEKHH3_ENST00000456950.2_5'UTR			Q7Z736	PKHH3_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 3	761	Poly-Ser.				signal transduction	cytoskeleton				endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|skin(2)	13		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.14)		GTCTTGGCATGGAGGAGAAGAGC	0.65													40	15	---	---	---	---						-	40820244	GGA	-	40820242	7	5	309	1	0	1	0	1	0	0	0	0	12126	1348	47	0	100	0	PLEKHH3	17	40820242	In_Frame_Del	DEL	GGA	TCGA-HT-8564-01A-11D-2395-08	53675	40820242	40374968	489	29771											
FMNL1	752	broad.mit.edu	37	17	43314943	43314943	+	Silent	SNP	G	G	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr17:43314943G>T	ENST00000331495.3	+	9	1167	c.831G>T	c.(829-831)gcG>gcT	p.A277A	FMNL1_ENST00000592006.1_3'UTR|FMNL1_ENST00000328118.3_Silent_p.A277A	NM_005892.3	NP_005883	O95466	FMNL_HUMAN	formin-like 1	277	GBD/FH3.				actin cytoskeleton organization		actin binding|Rho GTPase binding			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(12)|pancreas(1)|skin(1)|urinary_tract(2)	33						AGCTGCTGGCGGCCGTGTGCT	0.607													181	80					1.90661e-81	1.97085e-81	1	1	0	T	43314943	G	T	43314943	2	4	309	1	0	0	0	0	0	0	0	1	5984	1103	39	5		5	FMNL1	17	43314943	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	2494701	43314943	37880267	490	29772											
ITGA3	3675	broad.mit.edu	37	17	48157736	48157736	+	Silent	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr17:48157736C>T	ENST00000320031.8	+	22	3147	c.2817C>T	c.(2815-2817)atC>atT	p.I939I	ITGA3_ENST00000007722.7_Silent_p.I939I	NM_002204.2|NM_005501.2	NP_002195.1|NP_005492.1	P26006	ITA3_HUMAN	integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor)	939					blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|leukocyte migration	cell surface|integrin complex	protein binding|receptor activity			endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	31						GCACCTTCATCGAGGTCAGTG	0.602													11	30					0	0	1	0	0	T	48157736	C	T	48157736	2	4	309	1	0	0	0	0	0	0	0	1	7921	874	31	1		1	ITGA3	17	48157736	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	4842793	48157736	33037474	491	29773											
EPN3	55040	broad.mit.edu	37	17	48616601	48616601	+	Silent	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr17:48616601C>T	ENST00000268933.3	+	5	1395	c.816C>T	c.(814-816)gcC>gcT	p.A272A	EPN3_ENST00000537145.1_Silent_p.A300A|EPN3_ENST00000541226.1_Silent_p.A189A	NM_017957.2	NP_060427.2	Q9H201	EPN3_HUMAN	epsin 3	272						clathrin-coated vesicle|nucleus|perinuclear region of cytoplasm	lipid binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;2.88e-09)			GTGCAGGGGCCGTGGTCCACC	0.607													73	24					0	0	1	0	0	T	48616601	C	T	48616601	2	4	309	1	0	0	0	0	0	0	0	1	5215	639	23	1		1	EPN3	17	48616601	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	458865	48616601	32578609	492	29774											
USP32	84669	broad.mit.edu	37	17	58259033	58259033	+	Silent	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr17:58259033C>T	ENST00000300896.4	-	32	4394	c.4200G>A	c.(4198-4200)cgG>cgA	p.R1400R	USP32_ENST00000592339.1_Silent_p.R1070R	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	ubiquitin specific peptidase 32	1400					protein deubiquitination|ubiquitin-dependent protein catabolic process	Golgi apparatus|membrane	calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			TCCCCAAAGTCCGTGGGCTGC	0.483													16	56					0	0	1	0	0	T	58259033	C	T	58259033	2	4	309	1	0	0	0	0	0	0	0	1	17123	842	30	2		2	USP32	17	58259033	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	9642432	58259033	22936177	493	29775											
ERN1	2081	broad.mit.edu	37	17	62144066	62144066	+	Silent	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr17:62144066C>T	ENST00000433197.3	-	8	902	c.807G>A	c.(805-807)ccG>ccA	p.P269P		NM_001433.3	NP_001424.3	O75460	ERN1_HUMAN	endoplasmic reticulum to nucleus signaling 1						activation of signaling protein activity involved in unfolded protein response|apoptosis|cell cycle arrest|induction of apoptosis|mRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to endoplasmic reticulum membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(4)|kidney(1)|lung(2)|ovary(1)|stomach(1)	9						CCTTGGGGAACGGGTACTTCC	0.592													33	5					0	0	1	0	0	T	62144066	C	T	62144066	2	4	309	1	0	0	0	0	0	0	0	1	5265	523	19	1		1	ERN1	17	62144066	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	3885033	62144066	19051144	494	29776											
BTBD17	388419	broad.mit.edu	37	17	72353024	72353024	+	Silent	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr17:72353024G>A	ENST00000375366.3	-	3	1335	c.1209C>T	c.(1207-1209)gaC>gaT	p.D403D		NM_001080466.1	NP_001073935.1	A6NE02	BTBDH_HUMAN	BTB (POZ) domain containing 17	403						extracellular region				endometrium(1)|kidney(1)|lung(4)	6						CGCCCGCCGCGTCGCCGCCGC	0.771													10	4					0	0	1	0	0	A	72353024	G	A	72353024	2	1	309	1	0	0	0	0	0	0	0	1	1544	1136	40	1		1	BTBD17	17	72353024	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	10208958	72353024	8842186	495	29777											
BTBD17	388419	broad.mit.edu	37	17	72353354	72353354	+	Silent	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr17:72353354G>A	ENST00000375366.3	-	3	1005	c.879C>T	c.(877-879)caC>caT	p.H293H		NM_001080466.1	NP_001073935.1	A6NE02	BTBDH_HUMAN	BTB (POZ) domain containing 17	293						extracellular region				endometrium(1)|kidney(1)|lung(4)	6						GCGACGCGGCGTGGAACTGGT	0.731													16	3					0	0	1	0	0	A	72353354	G	A	72353354	2	1	309	1	0	0	0	0	0	0	0	1	1544	1136	40	1		1	BTBD17	17	72353354	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	330	72353354	8841856	496	29778											
QRICH2	84074	broad.mit.edu	37	17	74289330	74289330	+	Missense_Mutation	SNP	C	C	T	rs151086130	by1000genomes	TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr17:74289330C>T	ENST00000262765.5	-	4	1159	c.980G>A	c.(979-981)cGt>cAt	p.R327H		NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN	glutamine rich 2	327							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						TACACATCCACGCTGATCCAT	0.498													147	54					0	0	1	0	0	T	74289330	C	T	74289330	3	4	309	1	0	0	0	0	1	0	0	0	12932	536	19	1	4075	1	QRICH2	17	74289330	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	1935976	74289330	6905880	497	29779											
MGAT5B	146664	broad.mit.edu	37	17	74878237	74878237	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr17:74878237delG	ENST00000569840.2	+	3	760	c.186delG	c.(184-186)atgfs	p.M62fs	MGAT5B_ENST00000301618.4_Frame_Shift_Del_p.M62fs|MGAT5B_ENST00000374998.3_3'UTR|MGAT5B_ENST00000428789.2_Frame_Shift_Del_p.M73fs|MGAT5B_ENST00000565675.1_Frame_Shift_Del_p.M62fs	NM_001199172.1	NP_001186101.1	Q3V5L5	MGT5B_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B	62						Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity|metal ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(15)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CCACAGTGATGGGGGGCCCCG	0.662													7	79	---	---	---	---						-	74878237	G	-	74878237	7	5	309	1	0	1	0	1	0	0	0	0	9599	1348	47	0	297	0	MGAT5B	17	74878237	Frame_Shift_Del	DEL	G	TCGA-HT-8564-01A-11D-2395-08	588907	74878237	6316973	498	29780											
DNAH17	8632	broad.mit.edu	37	17	76558007	76558007	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr17:76558007G>A	ENST00000389840.5	-	12	1749	c.1625C>T	c.(1624-1626)gCg>gTg	p.A542V	DNAH17_ENST00000585328.1_Missense_Mutation_p.A542V					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			ATACCTGGGCGCCACCTCGGC	0.587													60	9					0	0	1	0	0	A	76558007	G	A	76558007	3	1	309	1	0	0	0	0	1	0	0	0	4629	1087	38	1	12043	1	DNAH17	17	76558007	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	1679770	76558007	4637203	499	29781											
SLC38A10	124565	broad.mit.edu	37	17	79256073	79256073	+	Silent	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr17:79256073C>T	ENST00000374759.3	-	5	800	c.417G>A	c.(415-417)ccG>ccA	p.P139P	SLC38A10_ENST00000288439.5_Silent_p.P139P	NM_001037984.1	NP_001033073.1	Q9HBR0	S38AA_HUMAN	solute carrier family 38, member 10	139					amino acid transport|sodium ion transport	integral to membrane				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			GCAGGCTGAGCGGGAGCACGA	0.662													10	58					0	0	1	0	0	T	79256073	C	T	79256073	2	4	309	1	0	0	0	0	0	0	0	1	14657	755	27	1		1	SLC38A10	17	79256073	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	2698066	79256073	1939137	500	29782											
HGS	9146	broad.mit.edu	37	17	79660715	79660717	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr17:79660715_79660717delAGG	ENST00000329138.4	+	10	908_910	c.773_775delAGG	c.(772-777)caggag>cag	p.E262del		NM_004712.4	NP_004703.1	O14964	HGS_HUMAN	hepatocyte growth factor-regulated tyrosine kinase substrate	262	Interaction with SNX1 (By similarity).				cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of JAK-STAT cascade|regulation of protein catabolic process	cytosol|early endosome membrane|multivesicular body membrane	metal ion binding|protein domain specific binding			endometrium(2)|kidney(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12	all_neural(118;0.0878)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)			ACGGCCCTGCAGGAGGAGGAGGA	0.729													6	5	---	---	---	---						-	79660717	AGG	-	79660715	7	5	309	1	0	1	0	1	0	0	0	0	7128	188	7	0	811	0	HGS	17	79660715	In_Frame_Del	DEL	AGG	TCGA-HT-8564-01A-11D-2395-08	404642	79660715	1534495	501	29783											
EPB41L3	23136	broad.mit.edu	37	18	5423406	5423406	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr18:5423406C>T	ENST00000341928.2	-	11	1650	c.1310G>A	c.(1309-1311)cGt>cAt	p.R437H	EPB41L3_ENST00000540638.2_Missense_Mutation_p.R437H|EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000544123.1_Missense_Mutation_p.R437H|EPB41L3_ENST00000342933.3_Missense_Mutation_p.R437H|EPB41L3_ENST00000400111.3_Missense_Mutation_p.R437H	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	437	Hydrophilic.				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						CATGGTATAACGTTTGCTGGA	0.478													32	26					0	0	1	0	0	T	5423406	C	T	5423406	3	4	309	1	0	0	0	0	1	0	0	0	5182	536	19	1	2001	1	EPB41L3	18	5423406	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08		5423406	72653842	502	29784											
NPC1	4864	broad.mit.edu	37	18	21114452	21114452	+	Silent	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr18:21114452G>A	ENST00000269228.5	-	23	4103	c.3549C>T	c.(3547-3549)cgC>cgT	p.R1183R	NPC1_ENST00000412552.2_Silent_p.R865R	NM_000271.4	NP_000262.2	O15118	NPC1_HUMAN	Niemann-Pick disease, type C1	1183					autophagy|bile acid metabolic process|cholesterol efflux|cholesterol homeostasis|lysosomal transport	endoplasmic reticulum|integral to plasma membrane|late endosome membrane|lysosomal membrane|nuclear envelope|perinuclear region of cytoplasm	hedgehog receptor activity|protein binding|sterol transporter activity			breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1)	38	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)					CGCGCTCCACGCGGCTGCCTT	0.587													26	19					0	0	1	0	0	A	21114452	G	A	21114452	2	1	309	1	0	0	0	0	0	0	0	1	10617	1074	38	1		1	NPC1	18	21114452	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	15691046	21114452	56962796	503	29785											
RNF125	54941	broad.mit.edu	37	18	29648291	29648291	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr18:29648291C>T	ENST00000217740.3	+	6	1135	c.643C>T	c.(643-645)Cga>Tga	p.R215*	RP11-53I6.2_ENST00000583184.1_RNA|RNF125_ENST00000583384.1_3'UTR	NM_017831.3	NP_060301.2	Q96EQ8	RN125_HUMAN	ring finger protein 125, E3 ubiquitin protein ligase	215					negative regulation of type I interferon production	intracellular	ligase activity|zinc ion binding			endometrium(1)|lung(4)|upper_aerodigestive_tract(1)	6						AGCTCTTATCCGAAGAGTCTT	0.338													30	26					0	0	1	0	0	T	29648291	C	T	29648291	4	4	309	1	0	0	0	0	0	1	0	0	13486	644	23	1	665	1	RNF125	18	29648291	Nonsense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	8533839	29648291	48428957	504	29786											
SERPINB11	89778	broad.mit.edu	37	18	61388269	61388270	+	RNA	INS	-	-	AC	rs147551453	by1000genomes	TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr18:61388269_61388270insAC	ENST00000544088.1	+	0	836				SERPINB11_ENST00000536691.1_RNA|SERPINB11_ENST00000382749.5_RNA|SERPINB11_ENST00000538847.1_RNA	NM_080475.2	NP_536723.2	Q96P15	SPB11_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 11 (gene/pseudogene)						regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			breast(1)|cervix(1)|kidney(1)|lung(3)	6		Esophageal squamous(42;0.129)				TGTGCATGTTAACACACACACA	0.386													4	5	---	---	---	---						AC	61388270	-	AC	61388269	6	5	309	0	1	1	1	0	0	0	0	0	14152	377	13	0		0	SERPINB11	18	61388269	RNA	INS	-	TCGA-HT-8564-01A-11D-2395-08	31739978	61388269	16688979	505	29787											
ZNF516	9658	broad.mit.edu	37	18	74153957	74153957	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr18:74153957C>T	ENST00000443185.2	-	3	1371	c.1054G>A	c.(1054-1056)Gcc>Acc	p.A352T	ZNF516_ENST00000524431.2_5'UTR	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN	zinc finger protein 516	352					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		GCATTGTGGGCGTTCAAGCTG	0.657													22	13					0	0	1	0	0	T	74153957	C	T	74153957	3	4	309	1	0	0	0	0	1	0	0	0	18017	768	27	1	2458	1	ZNF516	18	74153957	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	12765688	74153957	3923291	506	29788											
ADNP2	22850	broad.mit.edu	37	18	77896426	77896426	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr18:77896426delA	ENST00000262198.4	+	4	3585	c.3130delA	c.(3130-3132)aaafs	p.K1045fs		NM_014913.3	NP_055728.1	Q6IQ32	ADNP2_HUMAN	ADNP homeobox 2	1045					cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2)	42		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)		ATTAGATCCTAAAAAATATGA	0.358													34	29	---	---	---	---						-	77896426	A	-	77896426	7	5	309	1	0	1	0	1	0	0	0	0	323	363	13	0	3140	0	ADNP2	18	77896426	Frame_Shift_Del	DEL	A	TCGA-HT-8564-01A-11D-2395-08	3742469	77896426	180822	507	29789											
PALM	5064	broad.mit.edu	37	19	746408	746408	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:746408C>T	ENST00000264560.7	+	8	820	c.626C>T	c.(625-627)gCg>gTg	p.A209V	PALM_ENST00000593172.1_3'UTR|PALM_ENST00000338448.5_Missense_Mutation_p.A253V	NM_001040134.1	NP_001035224.1	O75781	PALM_HUMAN	paralemmin	253					cellular component movement|negative regulation of adenylate cyclase activity|negative regulation of dopamine receptor signaling pathway|positive regulation of filopodium assembly|regulation of cell shape	cytoplasmic membrane-bounded vesicle|filopodium membrane|integral to plasma membrane				endometrium(2)|large_intestine(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_epithelial(18;2.19e-21)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)|Lung(535;0.201)		ACGGCCGGGGCGGCAGAGACC	0.726													18	35					0	0	1	0	0	T	746408	C	T	746408	3	4	309	1	0	0	0	0	1	0	0	0	11455	768	27	1	792	1	PALM	19	746408	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08		746408	58382575	508	29790											
SHD	56961	broad.mit.edu	37	19	4290594	4290594	+	Silent	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:4290594G>A	ENST00000543264.2	+	6	2450	c.987G>A	c.(985-987)ctG>ctA	p.L329L	SHD_ENST00000599689.1_Silent_p.L289L	NM_020209.3	NP_064594.3	Q96IW2	SHD_HUMAN	Src homology 2 domain containing transforming protein D	329	SH2.									breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|stomach(1)	14				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0337)|STAD - Stomach adenocarcinoma(1328;0.18)		CCGAGCATCTGGCTCTGCTGT	0.662													36	86					0	0	1	0	0	A	4290594	G	A	4290594	2	1	309	1	0	0	0	0	0	0	0	1	14330	1335	47	2		2	SHD	19	4290594	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	3544186	4290594	54838389	509	29791											
PTPRS	5802	broad.mit.edu	37	19	5244109	5244109	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:5244109C>T	ENST00000372412.4	-	11	1609	c.1376G>A	c.(1375-1377)cGc>cAc	p.R459H	PTPRS_ENST00000348075.2_Missense_Mutation_p.R445H|PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000353284.2_Missense_Mutation_p.R445H|PTPRS_ENST00000357368.4_Missense_Mutation_p.R458H|PTPRS_ENST00000587303.1_Missense_Mutation_p.R458H|PTPRS_ENST00000262963.6_Missense_Mutation_p.R454H|PTPRS_ENST00000588012.1_Missense_Mutation_p.R445H|PTPRS_ENST00000592099.1_Missense_Mutation_p.R445H			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	458	Fibronectin type-III 2.				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)		GCGGTAGCCGCGGATCAGGCC	0.682													34	163					0	0	1	0	0	T	5244109	C	T	5244109	3	4	309	1	0	0	0	0	1	0	0	0	12863	768	27	1	4585	1	PTPRS	19	5244109	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	953515	5244109	53884874	510	29792											
DUS3L	56931	broad.mit.edu	37	19	5786850	5786850	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:5786850C>T	ENST00000309061.7	-	9	1492	c.1396G>A	c.(1396-1398)Ggc>Agc	p.G466S	DUS3L_ENST00000320699.8_Missense_Mutation_p.G224S	NM_020175.2	NP_064560.2	Q96G46	DUS3L_HUMAN	dihydrouridine synthase 3-like (S. cerevisiae)	466					tRNA processing		flavin adenine dinucleotide binding|nucleic acid binding|tRNA dihydrouridine synthase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(2)	14						CGAGAGCGGCCGTGGAGCTGG	0.642													11	20					0	0	1	0	0	T	5786850	C	T	5786850	3	4	309	1	0	0	0	0	1	0	0	0	4833	652	23	1	576	1	DUS3L	19	5786850	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	542741	5786850	53342133	511	29793											
VAV1	7409	broad.mit.edu	37	19	6772867	6772867	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:6772867C>G	ENST00000304076.2	+	1	143	c.49C>G	c.(49-51)Ctg>Gtg	p.L17V	VAV1_ENST00000602142.1_Missense_Mutation_p.L17V|VAV1_ENST00000596764.1_Missense_Mutation_p.L17V	NM_001258206.1	NP_001245135.1	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	17	CH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						GTGCCGGGTGCTGCCGCCCAG	0.677													15	80					0	0	1	0	0	G	6772867	C	G	6772867	3	3	309	1	0	0	0	0	1	0	0	0	17191	796	28	4	51	4	VAV1	19	6772867	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	986017	6772867	52356116	512	29794											
MCOLN1	57192	broad.mit.edu	37	19	7594070	7594072	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:7594070_7594072delCTT	ENST00000264079.6	+	10	1343_1345	c.1218_1220delCTT	c.(1216-1221)accttc>acc	p.F408del		NM_020533.2	NP_065394.1	Q9GZU1	MCLN1_HUMAN	mucolipin 1	408			Missing (in MLIV; mild psychomotor involvement; does not affect channel activity; affects channel inhibition by low pH; still localizes to late endosomes).		calcium ion transport|cellular iron ion homeostasis|transferrin transport	integral to plasma membrane|late endosome membrane|lysosomal membrane	cation channel activity|iron ion transmembrane transporter activity			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						GCTACCTGACCTTCTTCCACAAC	0.581													21	83	---	---	---	---						-	7594072	CTT	-	7594070	7	5	309	1	0	1	0	1	0	0	0	0	9445	668	24	0	1256	0	MCOLN1	19	7594070	In_Frame_Del	DEL	CTT	TCGA-HT-8564-01A-11D-2395-08	821203	7594070	51534913	513	29795											
PNPLA6	10908	broad.mit.edu	37	19	7619474	7619474	+	Silent	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:7619474C>T	ENST00000221249.6	+	24	2816	c.2385C>T	c.(2383-2385)gcC>gcT	p.A795A	PNPLA6_ENST00000600737.1_Silent_p.A833A|PNPLA6_ENST00000545201.2_Silent_p.A768A|PNPLA6_ENST00000450331.3_Silent_p.A795A|PNPLA6_ENST00000414982.3_Silent_p.A843A	NM_006702.4	NP_006693.3	Q8IY17	PLPL6_HUMAN	patatin-like phospholipase domain containing 6	834					cell death|lipid catabolic process|phosphatidylcholine metabolic process	endoplasmic reticulum membrane|integral to membrane	lysophospholipase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						GGTGGCTGGCCCAGCAGGAGG	0.652													26	76					0	0	1	0	0	T	7619474	C	T	7619474	2	4	309	1	0	0	0	0	0	0	0	1	12217	610	22	2		2	PNPLA6	19	7619474	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	25404	7619474	51509509	514	29796											
FBN3	84467	broad.mit.edu	37	19	8188415	8188415	+	Silent	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:8188415C>T	ENST00000600128.1	-	24	3429	c.3015G>A	c.(3013-3015)acG>acA	p.T1005T	FBN3_ENST00000601739.1_Silent_p.T1005T|FBN3_ENST00000270509.2_Silent_p.T1005T			Q75N90	FBN3_HUMAN	fibrillin 3	1005	EGF-like 12; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						AGCTGCCCACCGTGTTTCTGC	0.607													40	35					0	0	1	0	0	T	8188415	C	T	8188415	2	4	309	1	0	0	0	0	0	0	0	1	5737	639	23	1		1	FBN3	19	8188415	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	568941	8188415	50940568	515	29797											
FBN3	84467	broad.mit.edu	37	19	8201185	8201185	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:8201185C>T	ENST00000600128.1	-	12	1768	c.1354G>A	c.(1354-1356)Gaa>Aaa	p.E452K	FBN3_ENST00000601739.1_Missense_Mutation_p.E452K|FBN3_ENST00000270509.2_Missense_Mutation_p.E452K			Q75N90	FBN3_HUMAN	fibrillin 3	452	EGF-like 4; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						CTGGTGCATTCGTCTACATCT	0.677													37	103					0	0	1	0	0	T	8201185	C	T	8201185	3	4	309	1	0	0	0	0	1	0	0	0	5737	893	31	1	7287	1	FBN3	19	8201185	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	12770	8201185	50927798	516	29798											
MYO1F	4542	broad.mit.edu	37	19	8601249	8601249	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:8601249G>A	ENST00000338257.8	-	19	2197	c.1930C>T	c.(1930-1932)Cgg>Tgg	p.R644W		NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN	myosin IF	644	Myosin head-like.					unconventional myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						CCACGCCACCGCGGCCACGTC	0.647													59	78					0	0	1	0	0	A	8601249	G	A	8601249	3	1	309	1	0	0	0	0	1	0	0	0	10121	1086	38	1	1406	1	MYO1F	19	8601249	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	400064	8601249	50527734	517	29799											
ZNF559	84527	broad.mit.edu	37	19	9453655	9453655	+	Nonsense_Mutation	SNP	C	C	T	rs147456906	by1000genomes	TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:9453655C>T	ENST00000393883.2	+	6	2176	c.1528C>T	c.(1528-1530)Cga>Tga	p.R510*	ZNF559_ENST00000587557.1_Nonsense_Mutation_p.R574*|ZNF177_ENST00000602738.1_Intron|ZNF559_ENST00000586255.1_Intron|ZNF559_ENST00000317221.7_3'UTR|ZNF177_ENST00000446085.4_Intron|ZNF559_ENST00000603380.1_Nonsense_Mutation_p.R510*|ZNF177_ENST00000605471.1_Intron|ZNF177_ENST00000602856.1_Intron|ZNF559_ENST00000538743.1_Nonsense_Mutation_p.R430*|ZNF177_ENST00000541595.2_Intron	NM_001202412.1	NP_001189341.1	Q9BR84	ZN559_HUMAN	zinc finger protein 559	510					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|large_intestine(7)|lung(15)|ovary(1)|urinary_tract(1)	26						ATATCTTATTCGACATCTAAG	0.438													35	90					0	0	1	0	0	T	9453655	C	T	9453655	4	4	309	1	0	0	0	0	0	1	0	0	18047	876	31	1	1542	1	ZNF559	19	9453655	Nonsense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	852406	9453655	49675328	518	29800											
ZGLP1	100125288	broad.mit.edu	37	19	10419252	10419252	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:10419252G>A	ENST00000403903.3	-	1	1304	c.106C>T	c.(106-108)Cgt>Tgt	p.R36C	CTD-2369P2.10_ENST00000452032.2_Intron|ZGLP1_ENST00000403352.1_Intron|FDX1L_ENST00000541276.1_Intron	NM_001103167.1	NP_001096637.1	P0C6A0	ZGLP1_HUMAN	zinc finger, GATA-like protein 1	36					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(2)|ovary(1)	6						GTGGGGTCACGTTTTCTTGGG	0.617													12	23					0	0	1	0	0	A	10419252	G	A	10419252	3	1	309	1	0	0	0	0	1	0	0	0	17731	1145	40	1	725	1	ZGLP1	19	10419252	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	965597	10419252	48709731	519	29801											
CNN1	1264	broad.mit.edu	37	19	11660568	11660568	+	Silent	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:11660568C>T	ENST00000592923.1	+	8	1279	c.702C>T	c.(700-702)ccC>ccT	p.P234P	CNN1_ENST00000544952.1_Silent_p.P264P|CNN1_ENST00000535659.2_Silent_p.P234P|CNN1_ENST00000252456.2_Silent_p.P284P			P51911	CNN1_HUMAN	calponin 1, basic, smooth muscle	284					actomyosin structure organization|regulation of smooth muscle contraction	cytoskeleton	actin binding|calmodulin binding			breast(1)|endometrium(2)|large_intestine(4)|lung(2)	9						TGGGTGAGCCCGCCCACAACC	0.632													27	133					0	0	1	0	0	T	11660568	C	T	11660568	2	4	309	1	0	0	0	0	0	0	0	1	3632	639	23	1		1	CNN1	19	11660568	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	1241316	11660568	47468415	520	29802											
MAN2B1	4125	broad.mit.edu	37	19	12768302	12768302	+	Silent	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:12768302G>A	ENST00000456935.2	-	11	1417	c.1377C>T	c.(1375-1377)aaC>aaT	p.N459N	MAN2B1_ENST00000221363.4_Silent_p.N458N|MAN2B1_ENST00000495617.1_5'UTR	NM_000528.3|NM_001173498.1	NP_000519.2|NP_001166969.1	O00754	MA2B1_HUMAN	mannosidase, alpha, class 2B, member 1	459					protein deglycosylation	lysosome	alpha-mannosidase activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						GCGCGTAGTCGTTGGCCACGT	0.682													4	3					0	0	1	0	0	A	12768302	G	A	12768302	2	1	309	1	0	0	0	0	0	0	0	1	9266	1136	40	1		1	MAN2B1	19	12768302	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	1107734	12768302	46360681	521	29803											
TNPO2	30000	broad.mit.edu	37	19	12817117	12817117	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:12817117C>T	ENST00000425528.1	-	15	1918	c.1561G>A	c.(1561-1563)Gac>Aac	p.D521N	TNPO2_ENST00000588216.1_Missense_Mutation_p.D521N|TNPO2_ENST00000356861.5_Missense_Mutation_p.D521N|TNPO2_ENST00000450764.2_Missense_Mutation_p.D521N|TNPO2_ENST00000592287.1_Missense_Mutation_p.D521N|TNPO2_ENST00000441499.1_Missense_Mutation_p.D521N			O14787	TNPO2_HUMAN	transportin 2	521					intracellular protein transport	cytoplasm|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						ACAAGGGTGTCCAGGATGTAG	0.587													19	72					0	0	1	0	0	T	12817117	C	T	12817117	3	4	309	1	0	0	0	0	1	0	0	0	16396	855	30	2	1176	2	TNPO2	19	12817117	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	48815	12817117	46311866	522	29804											
SLC1A6	6511	broad.mit.edu	37	19	15072860	15072860	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:15072860C>T	ENST00000598504.1	-	8	2248	c.889G>A	c.(889-891)Gac>Aac	p.D297N	SLC1A6_ENST00000430939.2_Missense_Mutation_p.D233N|SLC1A6_ENST00000544886.2_Missense_Mutation_p.D297N|SLC1A6_ENST00000600144.1_Missense_Mutation_p.D297N|SLC1A6_ENST00000221742.3_Missense_Mutation_p.D297N	NM_001272087.1	NP_001259016.1	P48664	EAA4_HUMAN	solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6	297					synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42					L-Glutamic Acid(DB00142)	TTGAGGCTGTCGAAGAAGTCC	0.572													75	101					0	0	1	0	0	T	15072860	C	T	15072860	3	4	309	1	0	0	0	0	1	0	0	0	14491	884	31	1	825	1	SLC1A6	19	15072860	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	2255743	15072860	44056123	523	29805											
PGLYRP2	114770	broad.mit.edu	37	19	15580456	15580456	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:15580456G>A	ENST00000292609.4	-	4	1757	c.1628C>T	c.(1627-1629)cCg>cTg	p.P543L	PGLYRP2_ENST00000340880.4_Missense_Mutation_p.P543L			Q96PD5	PGRP2_HUMAN	peptidoglycan recognition protein 2	543					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptide amidation|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(2)|skin(3)|stomach(2)|urinary_tract(1)	28						GGTGAAGTGCGGCCAGGTGCG	0.721													12	13					0	0	1	0	0	A	15580456	G	A	15580456	3	1	309	1	0	0	0	0	1	0	0	0	11842	1116	39	1	110	1	PGLYRP2	19	15580456	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	507596	15580456	43548527	524	29806											
OR10H1	26539	broad.mit.edu	37	19	15918656	15918656	+	Silent	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:15918656G>A	ENST00000334920.2	-	1	280	c.192C>T	c.(190-192)tgC>tgT	p.C64C		NM_013940.2	NP_039228.1	Q9Y4A9	O10H1_HUMAN	olfactory receptor, family 10, subfamily H, member 1	64					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|skin(2)|urinary_tract(1)	29						CGGAGAGGGCGCACAGGAAGA	0.642													53	118					0	0	1	0	0	A	15918656	G	A	15918656	2	1	309	1	0	0	0	0	0	0	0	1	10953	1079	38	1		1	OR10H1	19	15918656	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	338200	15918656	43210327	525	29807											
KCNN1	3780	broad.mit.edu	37	19	18092920	18092920	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:18092920G>A	ENST00000222249.9	+	5	1220	c.901G>A	c.(901-903)Gtg>Atg	p.V301M		NM_002248.3	NP_002239.2	Q92952	KCNN1_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 1						synaptic transmission	voltage-gated potassium channel complex	calmodulin binding|small conductance calcium-activated potassium channel activity			endometrium(1)|kidney(1)|lung(5)|urinary_tract(1)	8						AGCCTGGACCGTGCGCGTCTG	0.652													12	7					0	0	1	0	0	A	18092920	G	A	18092920	3	1	309	1	0	0	0	0	1	0	0	0	8122	1145	40	1	911	1	KCNN1	19	18092920	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	2174264	18092920	41036063	526	29808											
TSSK6	83983	broad.mit.edu	37	19	19625703	19625703	+	Silent	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:19625703C>T	ENST00000360913.3	-	1	1135	c.534G>A	c.(532-534)gcG>gcA	p.A178A	TSSK6_ENST00000585580.3_Silent_p.A178A			Q9BXA6	TSSK6_HUMAN	testis-specific serine kinase 6	178	Protein kinase.				multicellular organismal development|sperm chromatin condensation		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	16						CCTCGGGTGACGCGTAGGCGG	0.662													8	48					0	0	1	0	0	T	19625703	C	T	19625703	2	4	309	1	0	0	0	0	0	0	0	1	16733	523	19	1		1	TSSK6	19	19625703	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	1532783	19625703	39503280	527	29809											
CILP2	148113	broad.mit.edu	37	19	19655182	19655182	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:19655182G>A	ENST00000586018.1	+	8	1948	c.1846G>A	c.(1846-1848)Gtg>Atg	p.V616M	CILP2_ENST00000291495.5_Missense_Mutation_p.V610M			Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	610						proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						GGTGACGTTCGTGGACCCCCG	0.692													77	175					0	0	1	0	0	A	19655182	G	A	19655182	3	1	309	1	0	0	0	0	1	0	0	0	3452	1145	40	1	1858	1	CILP2	19	19655182	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	29479	19655182	39473801	528	29810											
CD22	933	broad.mit.edu	37	19	35823774	35823774	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:35823774G>T	ENST00000085219.5	+	3	425	c.359G>T	c.(358-360)aGg>aTg	p.R120M	CD22_ENST00000536635.2_Missense_Mutation_p.R120M|CD22_ENST00000419549.2_5'UTR|CD22_ENST00000544992.2_Missense_Mutation_p.R120M|CD22_ENST00000595419.1_3'UTR|CD22_ENST00000270311.6_5'UTR|CD22_ENST00000594250.1_Missense_Mutation_p.R120M|CD22_ENST00000341773.6_Missense_Mutation_p.R120M	NM_001771.3	NP_001762.2	P20273	CD22_HUMAN	CD22 molecule	120	Ig-like V-type.				cell adhesion		protein binding|sugar binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		OspA lipoprotein(DB00045)	CTGGGGCTGAGGATGGAGTCC	0.542													18	71					0.000132079	0.000133065	1	1	0	T	35823774	G	T	35823774	3	4	309	1	0	0	0	0	1	0	0	0	3007	1000	35	4	365	4	CD22	19	35823774	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	16168592	35823774	23305209	529	29811											
GGN	199720	broad.mit.edu	37	19	38876366	38876366	+	Silent	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:38876366G>A	ENST00000334928.6	-	3	1668	c.1536C>T	c.(1534-1536)tcC>tcT	p.S512S	AC005789.9_ENST00000585411.1_RNA|GGN_ENST00000591809.1_Intron	NM_152657.3	NP_689870.3	Q86UU5	GGN_HUMAN	gametogenetin	512	Interactions with ZNF403/GGNBP2 and OAZ3 (By similarity).|Pro-rich.				cell differentiation|multicellular organismal development|spermatogenesis					breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24	all_cancers(60;3.4e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			gtgcgggcgcggacacaggcg	0.746													28	26					0	0	1	0	0	A	38876366	G	A	38876366	2	1	309	1	0	0	0	0	0	0	0	1	6400	1103	39	1		1	GGN	19	38876366	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	3052592	38876366	20252617	530	29812											
RYR1	6261	broad.mit.edu	37	19	38974156	38974156	+	Splice_Site	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:38974156G>A	ENST00000355481.4	+	33	5065	c.4934G>A	c.(4933-4935)cGg>cAg	p.R1645Q	RYR1_ENST00000359596.3_Splice_Site_p.R1645Q|RYR1_ENST00000360985.3_Splice_Site_p.R1645Q	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1645	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GAGGAGAACCGGTCAGGGCCA	0.687													5	5					0	0	1	0	0	A	38974156	G	A	38974156	5	1	309	1	0	0	0	0	0	0	1	0	13820	1130	39	1	5064	1	RYR1	19	38974156	Splice_Site	SNP	G	TCGA-HT-8564-01A-11D-2395-08	97790	38974156	20154827	531	29813											
LGALS4	3960	broad.mit.edu	37	19	39299582	39299582	+	Silent	SNP	G	G	A	rs140167180		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:39299582G>A	ENST00000307751.4	-	3	618	c.141C>T	c.(139-141)ttC>ttT	p.F47F	LGALS4_ENST00000597803.1_Intron	NM_006149.3	NP_006140.1	P56470	LEG4_HUMAN	lectin, galactoside-binding, soluble, 4	47	Galectin 1.				cell adhesion	cytosol|plasma membrane	sugar binding			NS(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17	all_cancers(60;1.02e-05)|Ovarian(47;0.0454)		Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)			CAAAGTTCACGAAGAACCTGG	0.642													7	19					0	0	1	0	0	A	39299582	G	A	39299582	2	1	309	1	0	0	0	0	0	0	0	1	8784	1049	37	1		1	LGALS4	19	39299582	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	325426	39299582	19829401	532	29814											
NCCRP1	342897	broad.mit.edu	37	19	39691350	39691350	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:39691350G>A	ENST00000339852.4	+	6	804	c.782G>A	c.(781-783)cGg>cAg	p.R261Q		NM_001001414.1	NP_001001414.1	Q6ZVX7	NCRP1_HUMAN	non-specific cytotoxic cell receptor protein 1 homolog (zebrafish)	261	FBA.				protein catabolic process					kidney(1)|large_intestine(2)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	10						GGGCTGCGGCGGACACGGGTG	0.632													196	246					0	0	1	0	0	A	39691350	G	A	39691350	3	1	309	1	0	0	0	0	1	0	0	0	10260	1116	39	1	804	1	NCCRP1	19	39691350	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	391768	39691350	19437633	533	29815											
PRX	57716	broad.mit.edu	37	19	40913824	40913824	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:40913824G>A	ENST00000291825.7	-	4	284	c.16C>T	c.(16-18)Cgg>Tgg	p.R6W	PRX_ENST00000599513.1_5'UTR|PRX_ENST00000324001.7_Missense_Mutation_p.R6W	NM_020956.2	NP_066007.1	Q9BXM0	PRAX_HUMAN	periaxin	6					axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TCGGCACTCCGGCTCCTGGCC	0.627													23	62					0	0	1	0	0	A	40913824	G	A	40913824	3	1	309	1	0	0	0	0	1	0	0	0	12691	1115	39	1	4448	1	PRX	19	40913824	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	1222474	40913824	18215159	534	29816											
LYPD4	147719	broad.mit.edu	37	19	42343292	42343292	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:42343292C>T	ENST00000601246.1	-	4	438	c.68G>A	c.(67-69)cGt>cAt	p.R23H	LYPD4_ENST00000330743.3_Splice_Site|LYPD4_ENST00000343055.4_Missense_Mutation_p.R23H			Q6UWN0	LYPD4_HUMAN	LY6/PLAUR domain containing 4	23						anchored to membrane|plasma membrane				breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(2)	12						ACAGGACATACGAGGCAGAGT	0.577													7	147					0	0	1	0	0	T	42343292	C	T	42343292	3	4	309	1	0	0	0	0	1	0	0	0	9158	550	19	1	688	1	LYPD4	19	42343292	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	1429468	42343292	16785691	535	29817											
LIPE	3991	broad.mit.edu	37	19	42912409	42912409	+	Silent	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:42912409G>A	ENST00000244289.4	-	3	1761	c.1485C>T	c.(1483-1485)caC>caT	p.H495H	LIPE-AS1_ENST00000597203.1_RNA|LIPE-AS1_ENST00000593491.2_RNA|LIPE-AS1_ENST00000594624.2_RNA|LIPE-AS1_ENST00000599276.1_RNA|LIPE_ENST00000602000.1_5'UTR	NM_005357.2	NP_005348.2	Q05469	LIPS_HUMAN	lipase, hormone-sensitive	495					cholesterol metabolic process|protein phosphorylation|triglyceride catabolic process	caveola|cytosol	hormone-sensitive lipase activity|protein binding			breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		Prostate(69;0.00682)				TGCGTTTGTAGTGCTCCCCGA	0.627													45	211					0	0	1	0	0	A	42912409	G	A	42912409	2	1	309	1	0	0	0	0	0	0	0	1	8862	1020	36	2		2	LIPE	19	42912409	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	569117	42912409	16216574	536	29818											
PSG8	440533	broad.mit.edu	37	19	43259265	43259265	+	Missense_Mutation	SNP	C	C	T	rs113087470		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:43259265C>T	ENST00000404209.4	-	4	959	c.863G>A	c.(862-864)cGa>cAa	p.R288Q	PSG8_ENST00000401467.2_Missense_Mutation_p.R195Q|PSG8_ENST00000306511.4_Missense_Mutation_p.R288Q|PSG8_ENST00000406636.3_Missense_Mutation_p.R166Q|PSG8_ENST00000600709.1_Intron	NM_001130167.1	NP_001123639.1	Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8	288	Ig-like C2-type 2.					extracellular region				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				TTCAATGGGTCGCTTTACCCT	0.468													63	213					0	0	1	0	0	T	43259265	C	T	43259265	3	4	309	1	0	0	0	0	1	0	0	0	12710	884	31	1	446	1	PSG8	19	43259265	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	346856	43259265	15869718	537	29819											
APOE	348	broad.mit.edu	37	19	45411904	45411904	+	Silent	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:45411904G>A	ENST00000252486.4	+	4	462	c.351G>A	c.(349-351)gcG>gcA	p.A117A		NM_000041.2	NP_000032.1	P02649	APOE_HUMAN	apolipoprotein E	117	8 X 22 AA approximate tandem repeats.		A -> T (in isoform E3*; dbSNP:rs28931577).		anti-apoptosis|Cdc42 protein signal transduction|cell death|cGMP-mediated signaling|cholesterol efflux|cholesterol homeostasis|chylomicron remnant clearance|cytoskeleton organization|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|high-density lipoprotein particle clearance|high-density lipoprotein particle remodeling|induction of apoptosis|intracellular transport|negative regulation of blood vessel endothelial cell migration|negative regulation of cholesterol biosynthetic process|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of platelet activation|nitric oxide mediated signal transduction|phospholipid efflux|positive regulation of cGMP biosynthetic process|positive regulation of cholesterol efflux|positive regulation of cholesterol esterification|positive regulation of low-density lipoprotein particle receptor catabolic process|positive regulation of membrane protein ectodomain proteolysis|positive regulation of nitric-oxide synthase activity|receptor-mediated endocytosis|regulation of axon extension|regulation of neuronal synaptic plasticity|response to reactive oxygen species|reverse cholesterol transport|synaptic transmission, cholinergic|triglyceride metabolic process|very-low-density lipoprotein particle clearance|very-low-density lipoprotein particle remodeling	chylomicron|dendrite|high-density lipoprotein particle|intermediate-density lipoprotein particle|low-density lipoprotein particle|neuronal cell body|very-low-density lipoprotein particle	antioxidant activity|beta-amyloid binding|heparin binding|low-density lipoprotein particle receptor binding|metal chelating activity|phosphatidylcholine-sterol O-acyltransferase activator activity|phospholipid binding|protein heterodimerization activity|protein homodimerization activity|tau protein binding|very-low-density lipoprotein particle receptor binding			large_intestine(1)|lung(2)|prostate(1)	4	Lung NSC(12;0.0018)|all_lung(12;0.00481)	Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00327)|Epithelial(262;0.174)	Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)	AGCTGCAGGCGGCGCAGGCCC	0.682													3	13					0	0	1	0	0	A	45411904	G	A	45411904	2	1	309	1	0	0	0	0	0	0	0	1	799	1103	39	1		1	APOE	19	45411904	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	2152639	45411904	13717079	538	29820											
PPP1R13L	10848	broad.mit.edu	37	19	45885827	45885827	+	Silent	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:45885827C>T	ENST00000418234.2	-	12	2484	c.2406G>A	c.(2404-2406)gcG>gcA	p.A802A	PPP1R13L_ENST00000360957.5_Silent_p.A802A	NM_001142502.1	NP_001135974.1	Q8WUF5	IASPP_HUMAN	protein phosphatase 1, regulatory subunit 13 like	802	SH3.				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	transcription corepressor activity|transcription factor binding	p.A802A(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0182)		GGCCGTGCAGCGCGGCCCACC	0.697													31	102					0	0	1	0	0	T	45885827	C	T	45885827	2	4	309	1	0	0	0	0	0	0	0	1	12407	755	27	1		1	PPP1R13L	19	45885827	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	473923	45885827	13243156	539	29821											
PGLYRP1	8993	broad.mit.edu	37	19	46522887	46522887	+	Silent	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:46522887G>A	ENST00000008938.4	-	2	349	c.306C>T	c.(304-306)gaC>gaT	p.D102D	CCDC61_ENST00000601763.1_Intron	NM_005091.2	NP_005082.1	O75594	PGRP1_HUMAN	peptidoglycan recognition protein 1	102					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region	bacterial cell surface binding|N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			endometrium(2)|large_intestine(3)|lung(3)|ovary(2)	10		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.0036)|GBM - Glioblastoma multiforme(486;0.022)|Epithelial(262;0.208)		ATACGAGCCCGTCTTCTCCAA	0.592													28	34					0	0	1	0	0	A	46522887	G	A	46522887	2	1	309	1	0	0	0	0	0	0	0	1	11841	1136	40	1		1	PGLYRP1	19	46522887	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	637060	46522887	12606096	540	29822											
GRIN2D	2906	broad.mit.edu	37	19	48908573	48908573	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:48908573G>A	ENST00000263269.3	+	3	1136	c.1048G>A	c.(1048-1050)Gcc>Acc	p.A350T		NM_000836.2	NP_000827.2	O15399	NMDE4_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2D	350						cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|protein binding			autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1)	37		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Orphenadrine(DB01173)	CGACTGTCGCGCCCAGAACCG	0.652													17	7					0	0	1	0	0	A	48908573	G	A	48908573	3	1	309	1	0	0	0	0	1	0	0	0	6823	1087	38	1	1054	1	GRIN2D	19	48908573	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	2385686	48908573	10220410	541	29823											
TSKS	60385	broad.mit.edu	37	19	50265270	50265270	+	Silent	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:50265270C>T	ENST00000246801.3	-	2	472	c.390G>A	c.(388-390)acG>acA	p.T130T		NM_021733.1	NP_068379.1	Q9UJT2	TSKS_HUMAN	testis-specific serine kinase substrate	130							protein binding			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		CCAGGATTTCCGTGATGTCTG	0.622													9	111					0	0	1	0	0	T	50265270	C	T	50265270	2	4	309	1	0	0	0	0	0	0	0	1	16687	639	23	1		1	TSKS	19	50265270	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	1356697	50265270	8863713	542	29824											
POLD1	5424	broad.mit.edu	37	19	50912844	50912844	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:50912844C>T	ENST00000440232.2	+	17	2128	c.2075C>T	c.(2074-2076)gCg>gTg	p.A692V	POLD1_ENST00000599857.1_Missense_Mutation_p.A692V|POLD1_ENST00000595904.1_Missense_Mutation_p.A718V	NM_001256849.1|NM_002691.3	NP_001243778.1|NP_002682.2	P28340	DPOD1_HUMAN	polymerase (DNA directed), delta 1, catalytic subunit	692					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|DNA synthesis involved in DNA repair|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|response to UV|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	delta DNA polymerase complex|nucleoplasm|nucleotide-excision repair complex	3'-5'-exodeoxyribonuclease activity|chromatin binding|DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_neural(266;0.0571)		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)		CGGCAGCTGGCGCTGAAGGTG	0.672								DNA polymerases (catalytic subunits)					10	194					0	0	1	0	0	T	50912844	C	T	50912844	3	4	309	1	0	0	0	0	1	0	0	0	12238	768	27	1	2137	1	POLD1	19	50912844	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	647574	50912844	8216139	543	29825											
SPIB	6689	broad.mit.edu	37	19	50926144	50926144	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:50926144G>A	ENST00000599632.1	+	8	592	c.592G>A	c.(592-594)Ggc>Agc	p.G198S	SPIB_ENST00000595883.1_Silent_p.P63P|SPIB_ENST00000439922.2_Intron|SPIB_ENST00000596074.1_Intron|SPIB_ENST00000270632.7_Silent_p.P63P|SPIB_ENST00000597855.1_Silent_p.P63P						64																	CCTTCGACCCGGCAGCAGCCG	0.662													50	136					0	0	1	0	0	A	50926144	G	A	50926144	3	1	309	1	0	0	0	0	1	0	0	0	15106	1103	39	1	203	1	SPIB	19	50926144	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	13300	50926144	8202839	544	29826											
LILRB4	11006	broad.mit.edu	37	19	55175317	55175317	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:55175317G>A	ENST00000391736.1	+	5	491	c.176G>A	c.(175-177)cGt>cAt	p.R59H	LILRB4_ENST00000430952.2_Missense_Mutation_p.R59H|LILRB4_ENST00000391734.3_Missense_Mutation_p.R59H|LILRB4_ENST00000391733.3_Missense_Mutation_p.R59H|LILRB4_ENST00000270452.2_Missense_Mutation_p.R59H	NM_001278426.2|NM_001278428.2|NM_001278429.2|NM_001278430.2	NP_001265355.1|NP_001265357.1|NP_001265358.1|NP_001265359.1	Q8NHJ6	LIRB4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4	59	Ig-like C2-type 1.					integral to membrane|plasma membrane	antigen binding|receptor activity			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	39				GBM - Glioblastoma multiforme(193;0.035)		CGGGAGTACCGTCTGGATAAA	0.587													85	117					0	0	1	0	0	A	55175317	G	A	55175317	3	1	309	1	0	0	0	0	1	0	0	0	8833	1145	40	1	186	1	LILRB4	19	55175317	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	4249173	55175317	3953666	545	29827											
NLRP7	199713	broad.mit.edu	37	19	55451430	55451430	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:55451430C>T	ENST00000588756.1	-	6	1243	c.757G>A	c.(757-759)Gat>Aat	p.D253N	NLRP7_ENST00000448121.2_Missense_Mutation_p.D253N|NLRP7_ENST00000340844.2_Missense_Mutation_p.D253N|NLRP7_ENST00000592784.1_Missense_Mutation_p.D253N|NLRP7_ENST00000590030.1_Missense_Mutation_p.D253N|NLRP7_ENST00000446217.1_Missense_Mutation_p.D281N|NLRP7_ENST00000328092.5_Missense_Mutation_p.D253N			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	253	NACHT.						ATP binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		TCAAGGCCATCGACCACGAAC	0.567													94	98					0	0	1	0	0	T	55451430	C	T	55451430	3	4	309	1	0	0	0	0	1	0	0	0	10529	884	31	1	2388	1	NLRP7	19	55451430	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	276113	55451430	3677553	546	29828											
NLRP2	55655	broad.mit.edu	37	19	55493635	55493635	+	Missense_Mutation	SNP	A	A	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:55493635A>T	ENST00000543010.1	+	6	712	c.569A>T	c.(568-570)aAg>aTg	p.K190M	NLRP2_ENST00000391721.4_Missense_Mutation_p.K166M|NLRP2_ENST00000263437.6_Missense_Mutation_p.K187M|NLRP2_ENST00000537859.1_Missense_Mutation_p.K168M|NLRP2_ENST00000339757.7_Missense_Mutation_p.K168M|NLRP2_ENST00000427260.2_Missense_Mutation_p.K167M|NLRP2_ENST00000538819.1_Missense_Mutation_p.K166M|NLRP2_ENST00000448584.2_Missense_Mutation_p.K190M	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	190					apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		GAGAGATACAAGATGCTGATC	0.542													56	168					0	0	1	0	0	T	55493635	A	T	55493635	3	4	309	1	0	0	0	0	1	0	0	0	10524	72	3	5	587	5	NLRP2	19	55493635	Missense_Mutation	SNP	A	TCGA-HT-8564-01A-11D-2395-08	42205	55493635	3635348	547	29829											
NLRP2	55655	broad.mit.edu	37	19	55494882	55494882	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:55494882C>T	ENST00000543010.1	+	6	1959	c.1816C>T	c.(1816-1818)Ctc>Ttc	p.L606F	NLRP2_ENST00000391721.4_Missense_Mutation_p.L582F|NLRP2_ENST00000263437.6_Missense_Mutation_p.L603F|NLRP2_ENST00000537859.1_Missense_Mutation_p.L584F|NLRP2_ENST00000339757.7_Missense_Mutation_p.L584F|NLRP2_ENST00000427260.2_Missense_Mutation_p.L583F|NLRP2_ENST00000538819.1_Missense_Mutation_p.L582F|NLRP2_ENST00000448584.2_Missense_Mutation_p.L606F	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	606					apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		GCAGGAGCTCCTCGGCTGTCT	0.517													31	39					0	0	1	0	0	T	55494882	C	T	55494882	3	4	309	1	0	0	0	0	1	0	0	0	10524	681	24	2	1834	2	NLRP2	19	55494882	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	1247	55494882	3634101	548	29830											
SBK2	646643	broad.mit.edu	37	19	56041301	56041301	+	Silent	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:56041301C>T	ENST00000413299.1	-	4	883	c.846G>A	c.(844-846)gcG>gcA	p.A282A	SBK2_ENST00000344158.3_Silent_p.A282A	NM_001101401.2	NP_001094871.2	P0C263	SBK2_HUMAN	SH3 domain binding kinase family, member 2	282	Protein kinase.						ATP binding|protein serine/threonine kinase activity			endometrium(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9						GCTGGCCCGACGCCTGCCAGA	0.731													4	6					0	0	1	0	0	T	56041301	C	T	56041301	2	4	309	1	0	0	0	0	0	0	0	1	13914	523	19	1		1	SBK2	19	56041301	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	546419	56041301	3087682	549	29831											
ZNF835	90485	broad.mit.edu	37	19	57176021	57176021	+	Silent	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:57176021C>T	ENST00000537055.2	-	2	777	c.546G>A	c.(544-546)gcG>gcA	p.A182A		NM_001005850.2	NP_001005850.2			zinc finger protein 835											endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						GCCAGTGGGACGCCAGGTACG	0.716													8	21					0	0	1	0	0	T	57176021	C	T	57176021	2	4	309	1	0	0	0	0	0	0	0	1	18233	523	19	1		1	ZNF835	19	57176021	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	1134720	57176021	1952962	550	29832											
ZNF416	55659	broad.mit.edu	37	19	58084870	58084870	+	Silent	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:58084870C>T	ENST00000196489.3	-	4	624	c.402G>A	c.(400-402)gcG>gcA	p.A134A		NM_017879.1	NP_060349.1	Q9BWM5	ZN416_HUMAN	zinc finger protein 416	134					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(5)|lung(12)|prostate(1)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259)		GGTGAAAGACCGCACATGCCC	0.502													14	51					0	0	1	0	0	T	58084870	C	T	58084870	2	4	309	1	0	0	0	0	0	0	0	1	17950	639	23	1		1	ZNF416	19	58084870	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	908849	58084870	1044113	551	29833											
ZSCAN18	65982	broad.mit.edu	37	19	58596148	58596148	+	Silent	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:58596148C>T	ENST00000240727.6	-	7	1836	c.1437G>A	c.(1435-1437)ccG>ccA	p.P479P	ZSCAN18_ENST00000601144.1_Silent_p.P479P|ZSCAN18_ENST00000600404.1_Silent_p.P535P|ZSCAN18_ENST00000421612.2_Silent_p.P343P	NM_023926.4	NP_076415.3	Q8TBC5	ZSC18_HUMAN	zinc finger and SCAN domain containing 18	479					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|skin(3)	19		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		CGCGGGTGGACGGTTGGGGGC	0.726													5	12					0	0	1	0	0	T	58596148	C	T	58596148	2	4	309	1	0	0	0	0	0	0	0	1	18271	523	19	1		1	ZSCAN18	19	58596148	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	511278	58596148	532835	552	29834											
ZNF324B	388569	broad.mit.edu	37	19	58967425	58967425	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:58967425G>A	ENST00000391696.1	+	3	2016	c.1084G>A	c.(1084-1086)Gca>Aca	p.A362T	ZNF324B_ENST00000336614.4_Missense_Mutation_p.A372T|ZNF324B_ENST00000545523.1_Missense_Mutation_p.A372T			Q6AW86	Z324B_HUMAN	zinc finger protein 324B	372					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		TTATGCTTGCGCACAGTGTGG	0.657													4	54					0	0	1	0	0	A	58967425	G	A	58967425	3	1	309	1	0	0	0	0	1	0	0	0	17902	1087	38	1	1124	1	ZNF324B	19	58967425	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	371277	58967425	161558	553	29835											
MAVS	57506	broad.mit.edu	37	20	3845039	3845041	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr20:3845039_3845041delCTC	ENST00000428216.2	+	6	890_892	c.762_764delCTC	c.(760-765)ttctcc>ttc	p.S258del	MAVS_ENST00000416600.2_In_Frame_Del_p.S117del|MAVS_ENST00000358134.6_3'UTR	NM_020746.4	NP_065797.2	Q7Z434	MAVS_HUMAN	mitochondrial antiviral signaling protein	258					activation of innate immune response|cellular response to exogenous dsRNA|defense response to bacterium|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of chemokine (C-C motif) ligand 5 production|positive regulation of defense response to virus by host|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interleukin-8 production|positive regulation of IP-10 production|positive regulation of protein import into nucleus, translocation|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of type I interferon-mediated signaling pathway|response to virus	integral to membrane|mitochondrial outer membrane	CARD domain binding|protein kinase binding|signal transducer activity			autonomic_ganglia(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						GCACCTCCTTCTCCTCCTCATCC	0.626													53	115	---	---	---	---						-	3845041	CTC	-	3845039	7	5	309	1	0	1	0	1	0	0	0	0	9388	912	32	0	780	0	MAVS	20	3845039	In_Frame_Del	DEL	CTC	TCGA-HT-8564-01A-11D-2395-08		3845039	59180481	554	29836											
BFSP1	631	broad.mit.edu	37	20	17489628	17489628	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr20:17489628G>A	ENST00000377873.3	-	5	680	c.641C>T	c.(640-642)aCg>aTg	p.T214M	BFSP1_ENST00000544874.1_Missense_Mutation_p.T75M|BFSP1_ENST00000536626.1_Missense_Mutation_p.T75M|BFSP1_ENST00000377868.2_Missense_Mutation_p.T89M	NM_001195.3	NP_001186.1	Q12934	BFSP1_HUMAN	beaded filament structural protein 1, filensin	214	Coil 2.|Rod.					cytoplasm|intermediate filament|membrane	structural constituent of cytoskeleton|structural constituent of eye lens			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)|stomach(1)	18						CTCCCGCTCCGTCAGGAGCTT	0.647													11	17					0	0	1	0	0	A	17489628	G	A	17489628	3	1	309	1	0	0	0	0	1	0	0	0	1414	1145	40	1	1372	1	BFSP1	20	17489628	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	13644589	17489628	45535892	555	29837											
PLAGL2	5326	broad.mit.edu	37	20	30789887	30789887	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr20:30789887C>T	ENST00000246229.4	-	2	359	c.95G>A	c.(94-96)cGg>cAg	p.R32Q		NM_002657.3	NP_002648.1	Q9UPG8	PLAL2_HUMAN	pleiomorphic adenoma gene-like 2	32						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(2)|kidney(2)|liver(1)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	21			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			CTCCGCCTCCCGGCCCCGAGG	0.567													30	111					0	0	1	0	0	T	30789887	C	T	30789887	3	4	309	1	0	0	0	0	1	0	0	0	12068	652	23	1	1403	1	PLAGL2	20	30789887	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	13300259	30789887	32235633	556	29838											
DNMT3B	1789	broad.mit.edu	37	20	31368261	31368261	+	Silent	SNP	G	G	A	rs138805251		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr20:31368261G>A	ENST00000328111.2	+	2	453	c.132G>A	c.(130-132)ccG>ccA	p.P44P	DNMT3B_ENST00000353855.2_Silent_p.P44P|DNMT3B_ENST00000443239.3_Silent_p.P44P|DNMT3B_ENST00000201963.3_Silent_p.P56P|DNMT3B_ENST00000375623.4_Silent_p.P44P|DNMT3B_ENST00000456297.2_Silent_p.P44P|DNMT3B_ENST00000348286.2_Silent_p.P44P|DNMT3B_ENST00000344505.4_Silent_p.P44P	NM_006892.3	NP_008823.1	Q9UBC3	DNM3B_HUMAN	DNA (cytosine-5-)-methyltransferase 3 beta	44	Interaction with DNMT1 and DNMT3A.				negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation		metal ion binding|protein binding|transcription corepressor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TCCGCACCCCGGAGATCAGAG	0.652													13	39					0	0	1	0	0	A	31368261	G	A	31368261	2	1	309	1	0	0	0	0	0	0	0	1	4704	1103	39	1		1	DNMT3B	20	31368261	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	578374	31368261	31657259	557	29839											
DYNLRB1	83658	broad.mit.edu	37	20	33122560	33122560	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr20:33122560C>T	ENST00000417166.2	+	3	241	c.208C>T	c.(208-210)Cga>Tga	p.R70*	DYNLRB1_ENST00000357156.2_Nonsense_Mutation_p.R70*|DYNLRB1_ENST00000374846.3_Nonsense_Mutation_p.R122*|DYNLRB1_ENST00000480759.1_3'UTR			Q9NP97	DLRB1_HUMAN	dynein, light chain, roadblock-type 1	70					microtubule-based movement|transport|visual behavior	centrosome|cytoplasmic dynein complex|microtubule	microtubule motor activity			endometrium(1)|large_intestine(1)|lung(1)	3						CACCTTCCTTCGAATTCGCTC	0.537													45	58					0	0	1	0	0	T	33122560	C	T	33122560	4	4	309	1	0	0	0	0	0	1	0	0	4876	876	31	1	218	1	DYNLRB1	20	33122560	Nonsense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	1754299	33122560	29902960	558	29840											
EPB41L1	2036	broad.mit.edu	37	20	34770234	34770234	+	Silent	SNP	G	G	A	rs139137163	byFrequency	TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr20:34770234G>A	ENST00000338074.2	+	6	692	c.531G>A	c.(529-531)ccG>ccA	p.P177P	EPB41L1_ENST00000373941.1_Silent_p.P177P|EPB41L1_ENST00000202028.5_Silent_p.P115P|EPB41L1_ENST00000373946.3_Silent_p.P146P|EPB41L1_ENST00000373950.2_Silent_p.P80P|EPB41L1_ENST00000441639.1_Silent_p.P115P	NM_001258329.1|NM_012156.2	NP_001245258.1|NP_036288.2	Q9H4G0	E41L1_HUMAN	erythrocyte membrane protein band 4.1-like 1	177	FERM.				cortical actin cytoskeleton organization|synaptic transmission	cytoskeleton|cytosol|extrinsic to membrane|plasma membrane	actin binding|structural molecule activity			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37	Breast(12;0.0239)					AGTTCTACCCGCCTGATCCTG	0.582													38	69					0	0	1	0	0	A	34770234	G	A	34770234	2	1	309	1	0	0	0	0	0	0	0	1	5180	1074	38	1		1	EPB41L1	20	34770234	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	1647674	34770234	28255286	559	29841											
DHX35	60625	broad.mit.edu	37	20	37659354	37659354	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr20:37659354C>T	ENST00000252011.3	+	20	1924	c.1891C>T	c.(1891-1893)Cgt>Tgt	p.R631C	DHX35_ENST00000373325.2_Intron|DHX35_ENST00000373323.4_Missense_Mutation_p.R600C	NM_021931.3	NP_068750.2	Q9H5Z1	DHX35_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 35	631						catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	40		Myeloproliferative disorder(115;0.00878)				AAGGACCATCCGTGATGACCA	0.438													40	100					0	0	1	0	0	T	37659354	C	T	37659354	3	4	309	1	0	0	0	0	1	0	0	0	4536	652	23	1	1969	1	DHX35	20	37659354	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	2889120	37659354	25366166	560	29842											
GTSF1L	149699	broad.mit.edu	37	20	42354972	42354972	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr20:42354972delA	ENST00000373003.1	-	1	666	c.363delT	c.(361-363)tttfs	p.F121fs	GTSF1L_ENST00000373005.2_Frame_Shift_Del_p.F96fs	NM_001008901.1|NM_176791.3	NP_001008901.1|NP_789761.1	Q9H1H1	GTSFL_HUMAN	gametocyte specific factor 1-like	121							metal ion binding			endometrium(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	5		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			CCTTTTGAGGAAAAAAAGTCT	0.493													18	112	---	---	---	---						-	42354972	A	-	42354972	7	5	309	1	0	1	0	1	0	0	0	0	6928	243	9	0	87	0	GTSF1L	20	42354972	Frame_Shift_Del	DEL	A	TCGA-HT-8564-01A-11D-2395-08	4695618	42354972	20670548	561	29843											
CDH22	64405	broad.mit.edu	37	20	44838993	44838993	+	Silent	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr20:44838993G>A	ENST00000372262.3	-	6	1639	c.1239C>T	c.(1237-1239)gtC>gtT	p.V413V	CDH22_ENST00000537909.1_Silent_p.V413V|CDH22_ENST00000474438.1_5'UTR	NM_021248.1	NP_067071.1	Q9UJ99	CAD22_HUMAN	cadherin 22, type 2	413	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44		Myeloproliferative disorder(115;0.0122)				TCACCACGCCGACCAGGGAGC	0.771													6	4					0	0	1	0	0	A	44838993	G	A	44838993	2	1	309	1	0	0	0	0	0	0	0	1	3129	1045	37	1		1	CDH22	20	44838993	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	2484021	44838993	18186527	562	29844											
SLC13A3	64849	broad.mit.edu	37	20	45217829	45217829	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr20:45217829C>T	ENST00000279027.4	-	7	1004	c.986G>A	c.(985-987)cGg>cAg	p.R329Q	SLC13A3_ENST00000413164.2_Missense_Mutation_p.R279Q|SLC13A3_ENST00000435032.1_5'UTR|SLC13A3_ENST00000396360.1_Missense_Mutation_p.R282Q|SLC13A3_ENST00000472148.1_Missense_Mutation_p.R282Q|SLC13A3_ENST00000372121.1_Missense_Mutation_p.R279Q|SLC13A3_ENST00000290317.5_Missense_Mutation_p.R282Q|SLC13A3_ENST00000495082.1_Missense_Mutation_p.R282Q	NM_001193342.1|NM_022829.5	NP_001180271.1|NP_073740.2	Q8WWT9	S13A3_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3	329						integral to membrane|plasma membrane	high affinity sodium:dicarboxylate symporter activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(115;0.0122)			Succinic acid(DB00139)	GTATTCTTCCCGAATTACAGC	0.502													24	130					0	0	1	0	0	T	45217829	C	T	45217829	3	4	309	1	0	0	0	0	1	0	0	0	14448	652	23	1	850	1	SLC13A3	20	45217829	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	378836	45217829	17807691	563	29845											
PREX1	57580	broad.mit.edu	37	20	47266679	47266679	+	Silent	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr20:47266679C>T	ENST00000396220.1	-	24	2905	c.2883G>A	c.(2881-2883)ccG>ccA	p.P961P	PREX1_ENST00000371941.3_Silent_p.P961P			Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	961					actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			GGCCACACAGCGGGTGGGGCT	0.592													78	163					0	0	1	0	0	T	47266679	C	T	47266679	2	4	309	1	0	0	0	0	0	0	0	1	12528	755	27	1		1	PREX1	20	47266679	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	2048850	47266679	15758841	564	29846											
SALL4	57167	broad.mit.edu	37	20	50400983	50400983	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr20:50400983delC	ENST00000217086.4	-	4	3094	c.2983delG	c.(2983-2985)gttfs	p.V995fs	SALL4_ENST00000371539.3_Frame_Shift_Del_p.V218fs|SALL4_ENST00000395997.3_Frame_Shift_Del_p.V558fs	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4	995					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						AGGGTAGGAACCCCCCCACTC	0.562													24	116	---	---	---	---						-	50400983	C	-	50400983	7	5	309	1	0	1	0	1	0	0	0	0	13865	507	18	0	182	0	SALL4	20	50400983	Frame_Shift_Del	DEL	C	TCGA-HT-8564-01A-11D-2395-08	3134304	50400983	12624537	565	29847											
ZNF831	128611	broad.mit.edu	37	20	57769140	57769140	+	Frame_Shift_Del	DEL	G	G	-	rs55786258	by1000genomes	TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr20:57769140delG	ENST00000371030.2	+	1	3066	c.3066delG	c.(3064-3066)ttgfs	p.L1022fs		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1022						intracellular	nucleic acid binding|zinc ion binding	p.D1025fs*9(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					GGGCACAGTTGGGGGGGGACA	0.682													18	57	---	---	---	---						-	57769140	G	-	57769140	7	5	309	1	0	1	0	1	0	0	0	0	18232	1339	47	0	3068	0	ZNF831	20	57769140	Frame_Shift_Del	DEL	G	TCGA-HT-8564-01A-11D-2395-08	7368157	57769140	5256380	566	29848											
CDH4	1002	broad.mit.edu	37	20	60503309	60503309	+	Silent	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr20:60503309C>T	ENST00000360469.5	+	12	1921	c.1833C>T	c.(1831-1833)aaC>aaT	p.N611N	CDH4_ENST00000543233.1_Silent_p.N537N	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	611	Cadherin 4.				adherens junction organization|cell junction assembly		calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			TCAACGACAACGCCCCTGAGC	0.627													82	354					0	0	1	0	0	T	60503309	C	T	60503309	2	4	309	1	0	0	0	0	0	0	0	1	3134	535	19	1		1	CDH4	20	60503309	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	2734169	60503309	2522211	567	29849											
CDH4	1002	broad.mit.edu	37	20	60504690	60504690	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr20:60504690C>T	ENST00000360469.5	+	13	2117	c.2029C>T	c.(2029-2031)Cgc>Tgc	p.R677C	CDH4_ENST00000543233.1_Missense_Mutation_p.R603C	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	677	Cadherin 5.				adherens junction organization|cell junction assembly		calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			ACTCAGCTTGCGCATCCTGTA	0.532													37	105					0	0	1	0	0	T	60504690	C	T	60504690	3	4	309	1	0	0	0	0	1	0	0	0	3134	768	27	1	2079	1	CDH4	20	60504690	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	1381	60504690	2520830	568	29850											
TAF4	6874	broad.mit.edu	37	20	60574065	60574065	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr20:60574065G>A	ENST00000252996.4	-	12	2886	c.2887C>T	c.(2887-2889)Cgg>Tgg	p.R963W		NM_003185.3	NP_003176.2	O00268	TAF4_HUMAN	TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa						interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(26;1e-08)		BRCA - Breast invasive adenocarcinoma(19;3.1e-07)			AGGATCTCCCGCTCCTGCTCA	0.557													178	279					0	0	1	0	0	A	60574065	G	A	60574065	3	1	309	1	0	0	0	0	1	0	0	0	15583	1086	38	1	386	1	TAF4	20	60574065	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	69375	60574065	2451455	569	29851											
LAMA5	3911	broad.mit.edu	37	20	60905854	60905854	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr20:60905854C>T	ENST00000252999.3	-	30	3863	c.3797G>A	c.(3796-3798)cGg>cAg	p.R1266Q		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	1266	Domain IV 1 (domain IV B).				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GGTGGGGGGCCGAGGTCGGGG	0.697													3	7					0	0	1	0	0	T	60905854	C	T	60905854	3	4	309	1	0	0	0	0	1	0	0	0	8648	652	23	1	7494	1	LAMA5	20	60905854	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	331789	60905854	2119666	570	29852											
SLCO4A1	28231	broad.mit.edu	37	20	61288352	61288352	+	Silent	SNP	G	G	A	rs147575435	by1000genomes	TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr20:61288352G>A	ENST00000217159.1	+	2	751	c.546G>A	c.(544-546)acG>acA	p.T182T	SLCO4A1_ENST00000370507.1_Silent_p.T182T	NM_016354.3	NP_057438.3	Q96BD0	SO4A1_HUMAN	solute carrier organic anion transporter family, member 4A1	182					sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(3)|prostate(2)	21	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;2.33e-06)			TTATGGGCACGGGGTCGCTGG	0.687													13	103					0	0	1	0	0	A	61288352	G	A	61288352	2	1	309	1	0	0	0	0	0	0	0	1	14784	1103	39	1		1	SLCO4A1	20	61288352	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	382498	61288352	1737168	571	29853											
TNFRSF6B	8771	broad.mit.edu	37	20	62328415	62328417	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr20:62328415_62328417delGAG	ENST00000369996.1	+	1	395_397	c.295_297delGAG	c.(295-297)gagdel	p.E101del	RTEL1-TNFRSF6B_ENST00000482936.1_Stop_Codon_Del|RTEL1_ENST00000318100.4_Stop_Codon_Del	NM_003823.3	NP_003814.1	O95407	TNF6B_HUMAN	tumor necrosis factor receptor superfamily, member 6b, decoy	101					anti-apoptosis|apoptosis	extracellular region|soluble fraction	protein binding|receptor activity			central_nervous_system(1)|lung(2)|skin(1)	4	all_cancers(38;4.66e-12)|all_epithelial(29;2.56e-13)|Lung NSC(23;1.06e-08)|all_lung(23;3.34e-08)		Epithelial(9;1.78e-08)|all cancers(9;7.89e-08)|OV - Ovarian serous cystadenocarcinoma(5;0.00504)			CGGGGAGCGTGAGGAGGAGGCAC	0.67													9	35	---	---	---	---						-	62328417	GAG	-	62328415	7	5	309	1	0	1	0	1	0	0	0	0	16358	1291	45	0	297	0	TNFRSF6B	20	62328415	In_Frame_Del	DEL	GAG	TCGA-HT-8564-01A-11D-2395-08	1040063	62328415	697105	572	29854											
SON	6651	broad.mit.edu	37	21	34923567	34923567	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr21:34923567C>T	ENST00000356577.4	+	3	2505	c.2030C>T	c.(2029-2031)tCg>tTg	p.S677L	SON_ENST00000381692.2_Intron|SON_ENST00000290239.6_Missense_Mutation_p.S677L|SON_ENST00000381679.4_Missense_Mutation_p.S677L|SON_ENST00000300278.4_Missense_Mutation_p.S677L	NM_138927.1	NP_620305	P18583	SON_HUMAN	SON DNA binding protein	677					anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding			breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						GAGGTGCCCTCGACGACAGCG	0.557													27	97					0	0	1	0	0	T	34923567	C	T	34923567	3	4	309	1	0	0	0	0	1	0	0	0	14980	893	31	1	2040	1	SON	21	34923567	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08		34923567	13206328	573	29855											
PRDM15	63977	broad.mit.edu	37	21	43230535	43230535	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr21:43230535C>T	ENST00000422911.1	-	22	2899	c.2798G>A	c.(2797-2799)cGa>cAa	p.R933Q	PRDM15_ENST00000398548.1_Missense_Mutation_p.R913Q|PRDM15_ENST00000470586.1_5'UTR|PRDM15_ENST00000538201.1_Missense_Mutation_p.R896Q|PRDM15_ENST00000269844.3_Missense_Mutation_p.R1242Q|PRDM15_ENST00000447207.2_Missense_Mutation_p.R876Q	NM_001282934.1	NP_001269863.1	P57071	PRD15_HUMAN	PR domain containing 15	1242					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						CCGCATGTGTCGGCTCATGGA	0.682													29	27					0	0	1	0	0	T	43230535	C	T	43230535	3	4	309	1	0	0	0	0	1	0	0	0	12508	884	31	1	814	1	PRDM15	21	43230535	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	8306968	43230535	4899360	574	29856											
ICOSLG	23308	broad.mit.edu	37	21	45651221	45651221	+	Silent	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr21:45651221G>A	ENST00000407780.3	-	5	931	c.804C>T	c.(802-804)gtC>gtT	p.V268V	ICOSLG_ENST00000344330.4_Silent_p.V268V|ICOSLG_ENST00000400379.3_Silent_p.V268V|ICOSLG_ENST00000400377.3_Silent_p.V151V	NM_001283052.1	NP_001269981.1	O75144	ICOSL_HUMAN	inducible T-cell co-stimulator ligand	268					B cell activation|defense response|hyperosmotic response|positive regulation of activated T cell proliferation|signal transduction|T cell activation|T cell costimulation		receptor binding			endometrium(2)|lung(1)|stomach(1)|urinary_tract(1)	5				Colorectal(79;0.0163)|READ - Rectum adenocarcinoma(84;0.0772)		CCACCGCCACGACCACAAGCA	0.567													52	72					0	0	1	0	0	A	45651221	G	A	45651221	2	1	309	1	0	0	0	0	0	0	0	1	7531	1045	37	1		1	ICOSLG	21	45651221	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	2420686	45651221	2478674	575	29857											
SLC19A1	6573	broad.mit.edu	37	21	46951531	46951531	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr21:46951531C>T	ENST00000311124.4	-	3	873	c.721G>A	c.(721-723)Gcc>Acc	p.A241T	SLC19A1_ENST00000485649.2_Missense_Mutation_p.A201T|SLC19A1_ENST00000380010.4_Missense_Mutation_p.A241T|SLC19A1_ENST00000567670.1_Missense_Mutation_p.A241T	NM_194255.2	NP_919231.1	P41440	S19A1_HUMAN	solute carrier family 19 (folate transporter), member 1	241					folic acid metabolic process	integral to plasma membrane|membrane fraction	folic acid binding|folic acid transporter activity|methotrexate transporter activity|reduced folate carrier activity			endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	10				Colorectal(79;0.0569)|READ - Rectum adenocarcinoma(84;0.172)		ACCCGCAGGGCGTGTCCCAGC	0.716													69	60					0	0	1	0	0	T	46951531	C	T	46951531	3	4	309	1	0	0	0	0	1	0	0	0	14483	768	27	1	1070	1	SLC19A1	21	46951531	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	1300310	46951531	1178364	576	29858											
SLC19A1	6573	broad.mit.edu	37	21	46951822	46951822	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr21:46951822C>T	ENST00000311124.4	-	3	582	c.430G>A	c.(430-432)Gtg>Atg	p.V144M	SLC19A1_ENST00000485649.2_Missense_Mutation_p.V104M|SLC19A1_ENST00000380010.4_Missense_Mutation_p.V144M|SLC19A1_ENST00000567670.1_Missense_Mutation_p.V144M	NM_194255.2	NP_919231.1	P41440	S19A1_HUMAN	solute carrier family 19 (folate transporter), member 1	144					folic acid metabolic process	integral to plasma membrane|membrane fraction	folic acid binding|folic acid transporter activity|methotrexate transporter activity|reduced folate carrier activity			endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	10				Colorectal(79;0.0569)|READ - Rectum adenocarcinoma(84;0.172)		GCGGGCCGCACGAGAGAGAAG	0.667													5	9					0	0	1	0	0	T	46951822	C	T	46951822	3	4	309	1	0	0	0	0	1	0	0	0	14483	536	19	1	1361	1	SLC19A1	21	46951822	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	291	46951822	1178073	577	29859											
COL6A1	1291	broad.mit.edu	37	21	47423450	47423450	+	Silent	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr21:47423450C>T	ENST00000361866.3	+	35	2724	c.2610C>T	c.(2608-2610)gaC>gaT	p.D870D	COL6A1_ENST00000498614.1_3'UTR	NM_001848.2	NP_001839.2	P12109	CO6A1_HUMAN	collagen, type VI, alpha 1	870	C-terminal globular domain.|VWFA 3.				axon guidance|cell adhesion|protein heterotrimerization	collagen type VI|protein complex	platelet-derived growth factor binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	all_hematologic(128;0.24)			Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)	Palifermin(DB00039)	CCGCCCACGACGTGCGGGTGG	0.711													21	65					0	0	1	0	0	T	47423450	C	T	47423450	2	4	309	1	0	0	0	0	0	0	0	1	3722	535	19	1		1	COL6A1	21	47423450	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	471628	47423450	706445	578	29860											
DIP2A	23181	broad.mit.edu	37	21	47916995	47916995	+	Silent	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr21:47916995G>A	ENST00000318711.7	+	4	561	c.378G>A	c.(376-378)tcG>tcA	p.S126S	DIP2A_ENST00000457905.3_Silent_p.S126S|DIP2A_ENST00000400274.1_Silent_p.S126S|DIP2A_ENST00000466639.1_Silent_p.S126S|DIP2A_ENST00000417564.2_Silent_p.S126S|DIP2A_ENST00000427143.2_Silent_p.S62S|DIP2A_ENST00000435722.3_Silent_p.S126S	NM_001146116.1|NM_015151.3	NP_001139588.1|NP_055966.2	Q14689	DIP2A_HUMAN	DIP2 disco-interacting protein 2 homolog A (Drosophila)	126					multicellular organismal development	nucleus	catalytic activity|transcription factor binding			cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		TTGTGCATTCGTCTGTGGAAA	0.453													17	18					0	0	1	0	0	A	47916995	G	A	47916995	2	1	309	1	0	0	0	0	0	0	0	1	4555	1132	40	1		1	DIP2A	21	47916995	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	493545	47916995	212900	579	29861											
DIP2A	23181	broad.mit.edu	37	21	47954526	47954527	+	Frame_Shift_Ins	INS	-	-	G			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr21:47954526_47954527insG	ENST00000318711.7	+	13	1754_1755	c.1571_1572insG	c.(1570-1575)gtggggfs	p.VG524fs	DIP2A_ENST00000427143.2_Frame_Shift_Ins_p.VG459fs|DIP2A_ENST00000435722.3_Frame_Shift_Ins_p.VG523fs|DIP2A_ENST00000466639.1_Frame_Shift_Ins_p.VG480fs|DIP2A_ENST00000457905.3_Frame_Shift_Ins_p.VG523fs|DIP2A_ENST00000400274.1_Frame_Shift_Ins_p.VG519fs|DIP2A_ENST00000417564.2_Frame_Shift_Ins_p.VG523fs	NM_001146116.1|NM_015151.3	NP_001139588.1|NP_055966.2	Q14689	DIP2A_HUMAN	DIP2 disco-interacting protein 2 homolog A (Drosophila)	523					multicellular organismal development	nucleus	catalytic activity|transcription factor binding			cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		GGCAGTACGGTGGGGGTCACAG	0.535													26	32	---	---	---	---						G	47954527	-	G	47954526	7	5	309	1	0	1	1	0	0	0	0	0	4555	1696	59	0	1618	0	DIP2A	21	47954526	Frame_Shift_Ins	INS	-	TCGA-HT-8564-01A-11D-2395-08	37531	47954526	175369	580	29862											
IL17RA	23765	broad.mit.edu	37	22	17589817	17589817	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr22:17589817G>A	ENST00000319363.6	+	13	1841	c.1708G>A	c.(1708-1710)Gcc>Acc	p.A570T		NM_014339.5	NP_055154.3	Q96F46	I17RA_HUMAN	interleukin 17 receptor A	570					fibroblast activation|positive regulation of interleukin-23 production	integral to plasma membrane	interleukin-17 receptor activity			endometrium(2)|large_intestine(8)|lung(16)|ovary(1)|skin(2)|stomach(1)	30		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)		Colorectal(9;0.241)		GCTCCGCGCCGCCCTGGACAG	0.677													7	32					0	0	1	0	0	A	17589817	G	A	17589817	3	1	309	1	0	0	0	0	1	0	0	0	7683	1087	38	1	1758	1	IL17RA	22	17589817	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08		17589817	33714749	581	29863											
MICAL3	57553	broad.mit.edu	37	22	18387494	18387494	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr22:18387494C>T	ENST00000441493.2	-	3	728	c.376G>A	c.(376-378)Gtc>Atc	p.V126I	MICAL3_ENST00000585038.1_Missense_Mutation_p.V126I|MICAL3_ENST00000429452.1_Missense_Mutation_p.V126I|MICAL3_ENST00000444520.1_Missense_Mutation_p.V126I|MICAL3_ENST00000207726.7_Missense_Mutation_p.V126I|MICAL3_ENST00000383094.3_Missense_Mutation_p.V126I|MICAL3_ENST00000400561.2_Missense_Mutation_p.V126I|MICAL3_ENST00000414725.2_Missense_Mutation_p.V126I	NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	126						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		AGATGCAAGACGTTGTTGCGG	0.522													36	254					0	0	1	0	0	T	18387494	C	T	18387494	3	4	309	1	0	0	0	0	1	0	0	0	9619	536	19	1	6489	1	MICAL3	22	18387494	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	797677	18387494	32917072	582	29864											
ARVCF	421	broad.mit.edu	37	22	19960526	19960526	+	Silent	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr22:19960526G>A	ENST00000263207.3	-	15	2763	c.2472C>T	c.(2470-2472)caC>caT	p.H824H	ARVCF_ENST00000344269.3_Silent_p.H761H|ARVCF_ENST00000406259.1_Silent_p.H818H|ARVCF_ENST00000401994.1_Silent_p.H761H|ARVCF_ENST00000406522.1_Silent_p.H755H	NM_001670.2	NP_001661.1	O00192	ARVC_HUMAN	armadillo repeat gene deleted in velocardiofacial syndrome	824					cell adhesion|multicellular organismal development		protein binding			NS(1)|cervix(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|urinary_tract(2)	13	Colorectal(54;0.0993)					TCTGCAGCACGTGTGACGCCG	0.672													49	164					0	0	1	0	0	A	19960526	G	A	19960526	2	1	309	1	0	0	0	0	0	0	0	1	1002	1136	40	1		1	ARVCF	22	19960526	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	1573032	19960526	31344040	583	29865											
PI4KA	5297	broad.mit.edu	37	22	21082106	21082106	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr22:21082106G>A	ENST00000255882.6	-	40	4815	c.4729C>T	c.(4729-4731)Cgg>Tgg	p.R1577W	PI4KA_ENST00000572273.1_Missense_Mutation_p.R1519W|PI4KA_ENST00000414196.3_Missense_Mutation_p.R329W	NM_058004.3	NP_477352.3	P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	1519					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			GGGTCCAACCGAACGAGACGG	0.547													46	77					0	0	1	0	0	A	21082106	G	A	21082106	3	1	309	1	0	0	0	0	1	0	0	0	11921	1057	37	1	1643	1	PI4KA	22	21082106	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	1121580	21082106	30222460	584	29866											
PPIL2	23759	broad.mit.edu	37	22	22048118	22048118	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr22:22048118C>T	ENST00000335025.8	+	16	1244	c.1153C>T	c.(1153-1155)Cgc>Tgc	p.R385C	PPIL2_ENST00000412327.1_Missense_Mutation_p.R385C|PPIL2_ENST00000446951.1_3'UTR|PPIL2_ENST00000456792.2_Missense_Mutation_p.R364C|PPIL2_ENST00000406385.1_Missense_Mutation_p.R385C|PPIL2_ENST00000492445.2_Missense_Mutation_p.R385C|PPIL2_ENST00000398831.3_Missense_Mutation_p.R385C			Q13356	PPIL2_HUMAN	peptidylprolyl isomerase (cyclophilin)-like 2		PPIase cyclophilin-type.				blood coagulation|leukocyte migration|protein folding|protein polyubiquitination	Golgi lumen|nucleus|ubiquitin ligase complex	peptidyl-prolyl cis-trans isomerase activity|ubiquitin-ubiquitin ligase activity			endometrium(4)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	17	Colorectal(54;0.105)					CATCACGTTTCGCTCCTGTGC	0.602													116	152					0	0	1	0	0	T	22048118	C	T	22048118	3	4	309	1	0	0	0	0	1	0	0	0	12376	884	31	1	1215	1	PPIL2	22	22048118	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	966012	22048118	29256448	585	29867											
CABIN1	23523	broad.mit.edu	37	22	24479228	24479228	+	Silent	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr22:24479228G>A	ENST00000398319.2	+	20	3181	c.2796G>A	c.(2794-2796)acG>acA	p.T932T	CABIN1_ENST00000405822.2_Silent_p.T882T|CABIN1_ENST00000263119.5_Silent_p.T932T	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	932					cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						CTGAAGACACGCACCCTTACA	0.582													40	50					0	0	1	0	0	A	24479228	G	A	24479228	2	1	309	1	0	0	0	0	0	0	0	1	2546	1074	38	1		1	CABIN1	22	24479228	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	2431110	24479228	26825338	586	29868											
SUSD2	56241	broad.mit.edu	37	22	24581087	24581087	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr22:24581087G>A	ENST00000358321.3	+	6	1069	c.808G>A	c.(808-810)Gac>Aac	p.D270N		NM_019601.3	NP_062547.1	Q9UGT4	SUSD2_HUMAN	sushi domain containing 2	270					immune response	integral to membrane	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26						CTGGACCAACGACCACGCACT	0.672													28	52					0	0	1	0	0	A	24581087	G	A	24581087	3	1	309	1	0	0	0	0	1	0	0	0	15464	1058	37	1	830	1	SUSD2	22	24581087	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	101859	24581087	26723479	587	29869											
ADRBK2	157	broad.mit.edu	37	22	26118335	26118335	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr22:26118335C>T	ENST00000324198.6	+	21	2177	c.1985C>T	c.(1984-1986)cCg>cTg	p.P662L		NM_005160.3	NP_005151.2	P35626	ARBK2_HUMAN	adrenergic, beta, receptor kinase 2								ATP binding|beta-adrenergic receptor kinase activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(2)|skin(3)|stomach(2)	32					Adenosine triphosphate(DB00171)	CGTCGTGCCCCGAAGTTCCTC	0.542													40	135					0	0	1	0	0	T	26118335	C	T	26118335	3	4	309	1	0	0	0	0	1	0	0	0	343	652	23	1	2067	1	ADRBK2	22	26118335	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	1537248	26118335	25186231	588	29870											
MYO18B	84700	broad.mit.edu	37	22	26164580	26164580	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr22:26164580A>G	ENST00000335473.7	+	4	947	c.697A>G	c.(697-699)Aaa>Gaa	p.K233E	MYO18B_ENST00000536101.1_Missense_Mutation_p.K233E|MYO18B_ENST00000407587.2_Missense_Mutation_p.K233E	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	233						nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						GGCACTGAAAAAAGGCGAGGA	0.617													4	16					0	0	1	0	0	G	26164580	A	G	26164580	3	3	309	1	0	0	0	0	1	0	0	0	10114	15	1	3	707	3	MYO18B	22	26164580	Missense_Mutation	SNP	A	TCGA-HT-8564-01A-11D-2395-08	46245	26164580	25139986	589	29871											
INPP5J	27124	broad.mit.edu	37	22	31522443	31522443	+	Silent	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr22:31522443C>T	ENST00000331075.5	+	3	1402	c.1353C>T	c.(1351-1353)gaC>gaT	p.D451D	INPP5J_ENST00000400294.2_Silent_p.D84D|INPP5J_ENST00000405300.1_Silent_p.D84D|INPP5J_ENST00000404390.3_Silent_p.D83D|INPP5J_ENST00000412277.2_Silent_p.D384D	NM_001284285.1	NP_001271214.1	Q15735	PI5PA_HUMAN	inositol polyphosphate-5-phosphatase J	451	Catalytic (Potential).					cytoplasm|ruffle	inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|SH3 domain binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)	12						GCGGTGGTGACGACAGCGACG	0.657													109	191					0	0	1	0	0	T	31522443	C	T	31522443	2	4	309	1	0	0	0	0	0	0	0	1	7803	535	19	1		1	INPP5J	22	31522443	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	5357863	31522443	19782123	590	29872											
SFI1	9814	broad.mit.edu	37	22	31976293	31976293	+	Silent	SNP	C	C	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr22:31976293C>A	ENST00000443326.1	+	10	1338	c.945C>A	c.(943-945)acC>acA	p.T315T	SFI1_ENST00000540643.1_Intron|SFI1_ENST00000432498.1_Intron|SFI1_ENST00000400289.1_Silent_p.T315T|SFI1_ENST00000443011.1_Silent_p.T244T|SFI1_ENST00000400288.2_Silent_p.T397T|SFI1_ENST00000414585.1_Silent_p.T244T	NM_001258326.1|NM_001258327.1	NP_001245255.1|NP_001245256.1	A8K8P3	SFI1_HUMAN	Sfi1 homolog, spindle assembly associated (yeast)	397					G2/M transition of mitotic cell cycle	centriole|cytosol				NS(2)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)	38						ACAATGTGACCCACGCTCATC	0.453													5	74					0.184627	0.184901	1	1	0	A	31976293	C	A	31976293	2	1	309	1	0	0	0	0	0	0	0	1	14210	610	22	5		5	SFI1	22	31976293	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	453850	31976293	19328273	591	29873											
SFI1	9814	broad.mit.edu	37	22	32000374	32000374	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr22:32000374C>T	ENST00000432498.1	+	18	2261	c.1868C>T	c.(1867-1869)gCg>gTg	p.A623V	SFI1_ENST00000540643.1_Missense_Mutation_p.A599V|SFI1_ENST00000443326.1_Missense_Mutation_p.A572V|SFI1_ENST00000400289.1_Missense_Mutation_p.A572V|SFI1_ENST00000443011.1_Missense_Mutation_p.A501V|SFI1_ENST00000400288.2_Missense_Mutation_p.A654V|SFI1_ENST00000414585.1_Missense_Mutation_p.A501V	NM_014775.3	NP_055590.2	A8K8P3	SFI1_HUMAN	Sfi1 homolog, spindle assembly associated (yeast)	654					G2/M transition of mitotic cell cycle	centriole|cytosol				NS(2)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)	38						CTGCACAGGGCGCTGCAGGCA	0.602											OREG0003526	type=REGULATORY REGION|Gene=SFI1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	3	7					0	0	1	0	0	T	32000374	C	T	32000374	3	4	309	1	0	0	0	0	1	0	0	0	14210	768	27	1	2031	1	SFI1	22	32000374	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	24081	32000374	19304192	592	29874											
YWHAH	7533	broad.mit.edu	37	22	32352168	32352170	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr22:32352168_32352170delCTC	ENST00000248975.5	+	2	403_405	c.130_132delCTC	c.(130-132)ctcdel	p.L45del	YWHAH_ENST00000471374.1_3'UTR|YWHAH_ENST00000397492.1_3'UTR	NM_003405.3	NP_003396.1	Q04917	1433F_HUMAN	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, eta polypeptide	45					glucocorticoid catabolic process|glucocorticoid receptor signaling pathway|intracellular protein transport|negative regulation of dendrite morphogenesis|positive regulation of transcription, DNA-dependent|regulation of synaptic plasticity	cytoplasm	enzyme binding|glucocorticoid receptor binding|insulin-like growth factor receptor binding|protein domain specific binding			breast(1)|central_nervous_system(1)|large_intestine(1)|upper_aerodigestive_tract(1)	4						AGATCGAAATCTCCTCTCTGTGG	0.438													18	118	---	---	---	---						-	32352170	CTC	-	32352168	7	5	309	1	0	1	0	1	0	0	0	0	17564	913	32	0	136	0	YWHAH	22	32352168	In_Frame_Del	DEL	CTC	TCGA-HT-8564-01A-11D-2395-08	351794	32352168	18952398	593	29875											
APOL5	80831	broad.mit.edu	37	22	36122590	36122590	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr22:36122590G>A	ENST00000249044.2	+	3	475	c.475G>A	c.(475-477)Gca>Aca	p.A159T		NM_030642.1	NP_085145.1	Q9BWW9	APOL5_HUMAN	apolipoprotein L, 5	159					lipid metabolic process|lipid transport|lipoprotein metabolic process	cytoplasm|extracellular region	high-density lipoprotein particle binding|lipid binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|skin(2)|urinary_tract(1)	19						TTTGGCCCTAGCACCTGTGAC	0.547													7	177					0	0	1	0	0	A	36122590	G	A	36122590	3	1	309	1	0	0	0	0	1	0	0	0	806	971	34	2	485	2	APOL5	22	36122590	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	3770422	36122590	15181976	594	29876											
CSF2RB	1439	broad.mit.edu	37	22	37333546	37333546	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr22:37333546delC	ENST00000262825.5	+	14	1931	c.1714delC	c.(1714-1716)cccfs	p.P573fs	CSF2RB_ENST00000536485.1_Frame_Shift_Del_p.P514fs|CSF2RB_ENST00000406230.1_Frame_Shift_Del_p.P573fs|CSF2RB_ENST00000403662.3_Frame_Shift_Del_p.P567fs	NM_000395.2	NP_000386.1	P32927	IL3RB_HUMAN	colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)	567					respiratory gaseous exchange	granulocyte macrophage colony-stimulating factor receptor complex	cytokine receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42					Sargramostim(DB00020)	CACAGAGCAGCCCCCCAGCCC	0.637													7	52	---	---	---	---						-	37333546	C	-	37333546	7	5	309	1	0	1	0	1	0	0	0	0	3960	739	26	0	1746	0	CSF2RB	22	37333546	Frame_Shift_Del	DEL	C	TCGA-HT-8564-01A-11D-2395-08	1210956	37333546	13971020	595	29877											
ELFN2	114794	broad.mit.edu	37	22	37770333	37770333	+	Silent	SNP	G	G	A	rs144585839		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr22:37770333G>A	ENST00000402918.2	-	3	2027	c.1242C>T	c.(1240-1242)gcC>gcT	p.A414A	RP1-63G5.5_ENST00000430883.1_RNA	NM_052906.3	NP_443138.2	Q5R3F8	LRFN6_HUMAN	extracellular leucine-rich repeat and fibronectin type III domain containing 2							cell surface|integral to membrane				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	35	Melanoma(58;0.0574)					AGTAGTACACGGCTCCCAGCA	0.607													56	115					0	0	1	0	0	A	37770333	G	A	37770333	2	1	309	1	0	0	0	0	0	0	0	1	5086	1103	39	1		1	ELFN2	22	37770333	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	436787	37770333	13534233	596	29878											
MFNG	4242	broad.mit.edu	37	22	37882079	37882079	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr22:37882079G>A	ENST00000356998.3	-	1	360	c.137C>T	c.(136-138)cCg>cTg	p.P46L	MFNG_ENST00000416983.3_Missense_Mutation_p.P46L	NM_002405.3	NP_002396.2	O00587	MFNG_HUMAN	MFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase	46					pattern specification process	extracellular space|integral to Golgi membrane	O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity			large_intestine(2)|lung(2)|skin(1)	5	Melanoma(58;0.0574)					AGGGGGCCCCGGGTTCGGCTG	0.632													22	111					0	0	1	0	0	A	37882079	G	A	37882079	3	1	309	1	0	0	0	0	1	0	0	0	9575	1116	39	1	867	1	MFNG	22	37882079	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	111746	37882079	13422487	597	29879											
SH3BP1	23616	broad.mit.edu	37	22	38051660	38051660	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr22:38051660G>A	ENST00000357436.4	+	18	2388	c.2075G>A	c.(2074-2076)cGc>cAc	p.R692H	SH3BP1_ENST00000599616.1_Intron|Z83844.1_ENST00000456099.1_RNA	NM_018957.3	NP_061830.3	Q9Y3L3	3BP1_HUMAN	SH3-domain binding protein 1	692					signal transduction	cytoplasm	GTPase activator activity|SH3 domain binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	Melanoma(58;0.0574)					CCTCAGCCCCGCCCCAGGAGC	0.677													8	7					0	0	1	0	0	A	38051660	G	A	38051660	3	1	309	1	0	0	0	0	1	0	0	0	14298	1087	38	1	2145	1	SH3BP1	22	38051660	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	169581	38051660	13252906	598	29880											
CACNA1I	8911	broad.mit.edu	37	22	40043868	40043868	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr22:40043868G>A	ENST00000336649.4	+	11	1504	c.1504G>A	c.(1504-1506)Gga>Aga	p.G502R	CACNA1I_ENST00000407673.1_Intron|CACNA1I_ENST00000402142.3_Missense_Mutation_p.G502R|CACNA1I_ENST00000401624.1_Missense_Mutation_p.G502R|CACNA1I_ENST00000400164.3_Intron|CACNA1I_ENST00000404898.1_Intron			Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	502					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	gaGACATCTCGGAAGCCGGCA	0.562													29	66					0	0	1	0	0	A	40043868	G	A	40043868	3	1	309	1	0	0	0	0	1	0	0	0	2564	1117	39	1	1538	1	CACNA1I	22	40043868	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	1992208	40043868	11260698	599	29881											
TNRC6B	23112	broad.mit.edu	37	22	40662440	40662440	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr22:40662440C>T	ENST00000454349.2	+	5	2417	c.2206C>T	c.(2206-2208)Cgc>Tgc	p.R736C	TNRC6B_ENST00000301923.9_Intron|TNRC6B_ENST00000402203.1_Intron|TNRC6B_ENST00000335727.9_Missense_Mutation_p.R736C	NM_001162501.1	NP_001155973.1	Q9UPQ9	TNR6B_HUMAN	trinucleotide repeat containing 6B	736					gene silencing by RNA|regulation of translation	cytoplasmic mRNA processing body	nucleotide binding|RNA binding			breast(1)	1						GGGAGGTGGACGCCAGCCCAA	0.502													9	21					0	0	1	0	0	T	40662440	C	T	40662440	3	4	309	1	0	0	0	0	1	0	0	0	16401	536	19	1	2345	1	TNRC6B	22	40662440	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	618572	40662440	10642126	600	29882											
SGSM3	27352	broad.mit.edu	37	22	40803287	40803287	+	Silent	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr22:40803287C>T	ENST00000248929.9	+	12	1512	c.1323C>T	c.(1321-1323)cgC>cgT	p.R441R	SGSM3_ENST00000454798.2_Silent_p.R374R	NM_015705.4	NP_056520.2	Q96HU1	SGSM3_HUMAN	small G protein signaling modulator 3	441					cell cycle arrest|Rap protein signal transduction	cytoplasm	Rab GTPase activator activity|Rab GTPase binding			cervix(1)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)	19						CCATCCTGCGCGTGGCACGCC	0.617													43	85					0	0	1	0	0	T	40803287	C	T	40803287	2	4	309	1	0	0	0	0	0	0	0	1	14278	755	27	1		1	SGSM3	22	40803287	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	140847	40803287	10501279	601	29883											
L3MBTL2	83746	broad.mit.edu	37	22	41620136	41620136	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr22:41620136G>A	ENST00000216237.5	+	9	1213	c.1055G>A	c.(1054-1056)cGc>cAc	p.R352H		NM_031488.4	NP_113676.2	Q969R5	LMBL2_HUMAN	l(3)mbt-like 2 (Drosophila)	352					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	methylated histone residue binding|transcription corepressor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						ATCGGGGGTCGCCTACGGCTC	0.607													45	88					0	0	1	0	0	A	41620136	G	A	41620136	3	1	309	1	0	0	0	0	1	0	0	0	8631	1087	38	1	1089	1	L3MBTL2	22	41620136	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	816849	41620136	9684430	602	29884											
FBLN1	2192	broad.mit.edu	37	22	45914668	45914668	+	Splice_Site	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr22:45914668G>A	ENST00000348697.2	+	2	332		c.e2+1		FBLN1_ENST00000442170.2_Splice_Site|FBLN1_ENST00000327858.6_Splice_Site|FBLN1_ENST00000402984.3_Splice_Site|FBLN1_ENST00000262722.7_Splice_Site|FBLN1_ENST00000340923.5_Splice_Site			P23142	FBLN1_HUMAN	fibulin 1						interspecies interaction between organisms	extracellular space|soluble fraction	calcium ion binding|extracellular matrix structural constituent|protein binding			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	30		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		AAGAATGCAGGTACGTTTGCC	0.567													14	14					0	0	1	0	0	A	45914668	G	A	45914668	5	1	309	1	0	0	0	0	0	0	1	0	5731	1275	44	2	192	2	FBLN1	22	45914668	Splice_Site	SNP	G	TCGA-HT-8564-01A-11D-2395-08	4294532	45914668	5389898	603	29885											
CELSR1	9620	broad.mit.edu	37	22	46776725	46776725	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr22:46776725G>A	ENST00000262738.3	-	22	7215	c.7216C>T	c.(7216-7218)Cga>Tga	p.R2406*		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	2406					central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		GGCTTGGTTCGCTCCTCCACC	0.667													23	102					0	0	1	0	0	A	46776725	G	A	46776725	4	1	309	1	0	0	0	0	0	1	0	0	3243	1095	38	1	1884	1	CELSR1	22	46776725	Nonsense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	862057	46776725	4527841	604	29886											
CELSR1	9620	broad.mit.edu	37	22	46806347	46806347	+	Silent	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr22:46806347G>A	ENST00000262738.3	-	7	4880	c.4881C>T	c.(4879-4881)gaC>gaT	p.D1627D		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	1627	Laminin G-like 1.				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		CATTTTTGCCGTCGACTGACA	0.632													76	132					0	0	1	0	0	A	46806347	G	A	46806347	2	1	309	1	0	0	0	0	0	0	0	1	3243	1136	40	1		1	CELSR1	22	46806347	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	29622	46806347	4498219	605	29887											
TYMP	1890	broad.mit.edu	37	22	50967656	50967656	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr22:50967656C>T	ENST00000252029.3	-	3	488	c.326G>A	c.(325-327)cGc>cAc	p.R109H	TYMP_ENST00000395678.3_Missense_Mutation_p.R109H|TYMP_ENST00000395680.1_Missense_Mutation_p.R109H|TYMP_ENST00000395681.1_Missense_Mutation_p.R109H	NM_001113755.2|NM_001113756.2|NM_001257988.1|NM_001257989.1|NM_001953.4	NP_001107227.1|NP_001107228.1|NP_001244917.1|NP_001244918.1|NP_001944.1	P19971	TYPH_HUMAN	thymidine phosphorylase	109					angiogenesis|cell differentiation|chemotaxis|DNA replication|mitochondrial genome maintenance|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage|pyrimidine nucleotide metabolic process	cytosol	growth factor activity|platelet-derived growth factor receptor binding|pyrimidine-nucleoside phosphorylase activity|thymidine phosphorylase activity			large_intestine(1)|lung(2)|ovary(1)|prostate(1)	5		all_cancers(38;4.58e-14)|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)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)	Capecitabine(DB01101)|Docetaxel(DB01248)|Floxuridine(DB00322)|Fluorouracil(DB00544)|Sulfasalazine(DB00795)|Tamoxifen(DB00675)	AAGCTGCTGGCGCCAGGCCTC	0.642													38	87					0	0	1	0	0	T	50967656	C	T	50967656	3	4	309	1	0	0	0	0	1	0	0	0	16873	768	27	1	1154	1	TYMP	22	50967656	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	4161309	50967656	336910	606	29888											
ASMTL	8623	broad.mit.edu	37	X	1536976	1536976	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chrX:1536976C>T	ENST00000534940.1	-	11	1463	c.1238G>A	c.(1237-1239)cGt>cAt	p.R413H	ASMTL_ENST00000416733.2_Missense_Mutation_p.R395H|ASMTL_ENST00000381333.4_Missense_Mutation_p.R455H|ASMTL_ENST00000381317.3_Missense_Mutation_p.R471H	NM_001173473.1	NP_001166944.1	O95671	ASML_HUMAN	acetylserotonin O-methyltransferase-like	471	ASMT-like.				melatonin biosynthetic process	cytoplasm	acetylserotonin O-methyltransferase activity			NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(9)|pancreas(1)|soft_tissue(1)	23		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				AGGGTACTCACGGGCCAGCTC	0.612													15	45					0	0	1	0	0	T	1536976	C	T	1536976	3	4	309	1	0	0	0	0	1	0	0	0	1045	536	19	1	465	1	ASMTL	23	1536976	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08		1536976	153733584	607	29889											
SHROOM2	357	broad.mit.edu	37	X	9900853	9900853	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chrX:9900853delC	ENST00000380913.3	+	6	3620	c.3530delC	c.(3529-3531)gccfs	p.A1177fs	SHROOM2_ENST00000493668.1_3'UTR|SHROOM2_ENST00000418909.2_Frame_Shift_Del_p.A12fs	NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN	shroom family member 2	1177					apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization	apical plasma membrane|cell-cell adherens junction|microtubule|tight junction	actin filament binding|beta-catenin binding|ligand-gated sodium channel activity			breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57		Hepatocellular(5;0.000888)				CCCCAGTTCGCCCCCCAGAAA	0.627													23	43	---	---	---	---						-	9900853	C	-	9900853	7	5	309	1	0	1	0	1	0	0	0	0	14349	739	26	0	3552	0	SHROOM2	23	9900853	Frame_Shift_Del	DEL	C	TCGA-HT-8564-01A-11D-2395-08	8363877	9900853	145369707	608	29890											
FANCB	2187	broad.mit.edu	37	X	14883271	14883271	+	Missense_Mutation	SNP	C	C	T	rs142289802	byFrequency	TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chrX:14883271C>T	ENST00000398334.1	-	3	629	c.362G>A	c.(361-363)cGt>cAt	p.R121H	FANCB_ENST00000324138.3_Missense_Mutation_p.R121H	NM_001018113.1	NP_001018123.1	Q8NB91	FANCB_HUMAN	Fanconi anemia, complementation group B	121					DNA repair	nucleoplasm				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24	Hepatocellular(33;0.183)					AAAACTCAAACGCATTTCAAA	0.313								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				20	7					0	0	1	0	0	T	14883271	C	T	14883271	3	4	309	1	0	0	0	0	1	0	0	0	5696	536	19	1	2249	1	FANCB	23	14883271	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	4982418	14883271	140387289	609	29891											
ACOT9	23597	broad.mit.edu	37	X	23723697	23723698	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chrX:23723697_23723698insA	ENST00000379303.5	-	13	1075_1076	c.947_948insT	c.(946-948)ttcfs	p.F316fs	ACOT9_ENST00000379295.1_Frame_Shift_Ins_p.F247fs|ACOT9_ENST00000336430.7_Frame_Shift_Ins_p.F307fs	NM_001037171.1	NP_001032248.1	Q9Y305	ACOT9_HUMAN	acyl-CoA thioesterase 9	307					acyl-CoA metabolic process	mitochondrion	acetyl-CoA hydrolase activity|carboxylesterase activity			breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(4)|pancreas(1)|skin(1)	15						AGATCCGATTGAAAATGTTCCG	0.401													97	36	---	---	---	---						A	23723698	-	A	23723697	7	5	309	1	0	1	1	0	0	0	0	0	157	1281	45	0	414	0	ACOT9	23	23723697	Frame_Shift_Ins	INS	-	TCGA-HT-8564-01A-11D-2395-08	8840426	23723697	131546863	610	29892											
MAGEB6	158809	broad.mit.edu	37	X	26212350	26212350	+	Silent	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chrX:26212350C>T	ENST00000379034.1	+	2	536	c.387C>T	c.(385-387)aaC>aaT	p.N129N		NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	129	Ser-rich.									breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						TGGCTGCCAACGGCCAAGATG	0.557													78	18					0	0	1	0	0	T	26212350	C	T	26212350	2	4	309	1	0	0	0	0	0	0	0	1	9229	535	19	1		1	MAGEB6	23	26212350	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	2488653	26212350	129058210	611	29893											
FAM47A	158724	broad.mit.edu	37	X	34149532	34149532	+	Silent	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chrX:34149532G>A	ENST00000346193.3	-	1	915	c.864C>T	c.(862-864)gaC>gaT	p.D288D		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	288										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						CTGTGGGTTCGTCAGTTGTCT	0.577													13	29					0	0	1	0	0	A	34149532	G	A	34149532	2	1	309	1	0	0	0	0	0	0	0	1	5605	1136	40	1		1	FAM47A	23	34149532	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	7937182	34149532	121121028	612	29894											
RGN	9104	broad.mit.edu	37	X	46951573	46951573	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chrX:46951573G>A	ENST00000397180.1	+	7	1777	c.808G>A	c.(808-810)Gag>Aag	p.E270K	RGN_ENST00000457380.1_Missense_Mutation_p.E198K|RGN_ENST00000336169.3_Missense_Mutation_p.E270K|RGN_ENST00000352078.4_Missense_Mutation_p.E270K	NM_152869.2	NP_690608.1	Q15493	RGN_HUMAN	regucalcin	270					cellular calcium ion homeostasis|positive regulation of ATPase activity|regulation of calcium-mediated signaling	cytoplasm|nucleus	calcium ion binding|enzyme regulator activity|gluconolactonase activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(2)|skin(1)|urinary_tract(1)	9						GATGGACCCCGAGGGTCTTTT	0.463													12	2					0	0	1	0	0	A	46951573	G	A	46951573	3	1	309	1	0	0	0	0	1	0	0	0	13334	1059	37	1	826	1	RGN	23	46951573	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	12802041	46951573	108318987	613	29895											
CACNA1F	778	broad.mit.edu	37	X	49088267	49088267	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chrX:49088267G>A	ENST00000376265.2	-	2	209	c.148C>T	c.(148-150)Cga>Tga	p.R50*	CACNA1F_ENST00000376251.1_Intron|CACNA1F_ENST00000323022.5_Nonsense_Mutation_p.R50*	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	50					axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Verapamil(DB00661)	TGGTTTCTTCGCTTAGGGGTC	0.652													6	17					0	0	1	0	0	A	49088267	G	A	49088267	4	1	309	1	0	0	0	0	0	1	0	0	2561	1095	38	1	5973	1	CACNA1F	23	49088267	Nonsense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	2136694	49088267	106182293	614	29896											
DGKK	139189	broad.mit.edu	37	X	50147116	50147116	+	RNA	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chrX:50147116G>A	ENST00000376025.2	-	0	1068							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					TGCTGGGTCCGGTGGCTGTAA	0.438													19	9					0	0	1	0	0	A	50147116	G	A	50147116	1	1	309	0	1	0	0	0	0	0	0	0	4500	1115	39	1		1	DGKK	23	50147116	RNA	SNP	G	TCGA-HT-8564-01A-11D-2395-08	1058849	50147116	105123444	615	29897											
ARHGEF9	23229	broad.mit.edu	37	X	62857963	62857963	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chrX:62857963C>T	ENST00000253401.6	-	10	2296	c.1496G>A	c.(1495-1497)cGc>cAc	p.R499H	ARHGEF9_ENST00000374872.1_Missense_Mutation_p.R478H|ARHGEF9_ENST00000433323.2_Missense_Mutation_p.R226H|ARHGEF9_ENST00000495564.1_5'UTR|ARHGEF9_ENST00000437457.2_Missense_Mutation_p.R446H|ARHGEF9_ENST00000374878.1_Intron|ARHGEF9_ENST00000374870.4_Missense_Mutation_p.R397H	NM_015185.2	NP_056000.1	O43307	ARHG9_HUMAN	Cdc42 guanine nucleotide exchange factor (GEF) 9	499					apoptosis|induction of apoptosis by extracellular signals|ion transmembrane transport|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol	Rho guanyl-nucleotide exchange factor activity	p.R497H(2)|p.R499H(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|skin(1)	35						TGACTGGCTGCGCTTGGGTTC	0.493													7	14					0	0	1	0	0	T	62857963	C	T	62857963	3	4	309	1	0	0	0	0	1	0	0	0	909	768	27	1	58	1	ARHGEF9	23	62857963	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	12710847	62857963	92412597	616	29898											
HEPH	9843	broad.mit.edu	37	X	65427138	65427138	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chrX:65427138G>A	ENST00000519389.1	+	14	2734	c.2555G>A	c.(2554-2556)cGg>cAg	p.R852Q	HEPH_ENST00000419594.1_Missense_Mutation_p.R609Q|HEPH_ENST00000343002.2_Missense_Mutation_p.R798Q|HEPH_ENST00000374727.3_Missense_Mutation_p.R801Q|HEPH_ENST00000441993.2_Missense_Mutation_p.R801Q|HEPH_ENST00000336279.5_Missense_Mutation_p.R531Q			Q9BQS7	HEPH_HUMAN	hephaestin	798	Plastocyanin-like 5.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						AGGATCCCTCGGCCAAGGACT	0.478													5	18					0	0	1	0	0	A	65427138	G	A	65427138	3	1	309	1	0	0	0	0	1	0	0	0	7095	1116	39	1	2609	1	HEPH	23	65427138	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	2569175	65427138	89843422	617	29899											
ZMYM3	9203	broad.mit.edu	37	X	70464210	70464210	+	Missense_Mutation	SNP	C	C	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chrX:70464210C>A	ENST00000373998.1	-	20	3883	c.3186G>T	c.(3184-3186)tgG>tgT	p.W1062C	ZMYM3_ENST00000373984.3_Missense_Mutation_p.W1076C|ZMYM3_ENST00000373988.1_Missense_Mutation_p.W1076C|ZMYM3_ENST00000353904.2_Missense_Mutation_p.W1074C|ZMYM3_ENST00000314425.5_Missense_Mutation_p.W1074C|ZMYM3_ENST00000489332.1_5'UTR	NM_001171162.1	NP_001164633.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	1074					multicellular organismal development	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					TTGACTGCACCCAGCACTTCC	0.557													19	22					4.96729e-08	5.04199e-08	1	1	0	A	70464210	C	A	70464210	3	1	309	1	0	0	0	0	1	0	0	0	17759	624	22	5	914	5	ZMYM3	23	70464210	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	5037072	70464210	84806350	618	29900											
POF1B	79983	broad.mit.edu	37	X	84563165	84563165	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chrX:84563165G>A	ENST00000262753.4	-	10	1160	c.1015C>T	c.(1015-1017)Cgg>Tgg	p.R339W	POF1B_ENST00000373145.3_Missense_Mutation_p.R339W	NM_024921.3	NP_079197.3	Q8WVV4	POF1B_HUMAN	premature ovarian failure, 1B	339							actin binding	p.R339R(1)		central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)	35						AGCTCCTCCCGTATGTTGCTA	0.358													46	11					0	0	1	0	0	A	84563165	G	A	84563165	3	1	309	1	0	0	0	0	1	0	0	0	12230	1144	40	1	786	1	POF1B	23	84563165	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	14098955	84563165	70707395	619	29901											
IL1RAPL2	26280	broad.mit.edu	37	X	104999270	104999270	+	Missense_Mutation	SNP	T	T	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chrX:104999270T>A	ENST00000372582.1	+	10	2048	c.1292T>A	c.(1291-1293)cTg>cAg	p.L431Q	IL1RAPL2_ENST00000344799.4_Missense_Mutation_p.L431Q|IL1RAPL2_ENST00000485671.1_3'UTR	NM_017416.1	NP_059112.1	Q9NP60	IRPL2_HUMAN	interleukin 1 receptor accessory protein-like 2	431	TIR.				central nervous system development|innate immune response	integral to membrane	interleukin-1, Type II, blocking receptor activity			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						CTTGAAGTACTGCCAGATGTC	0.378													30	101					0	0	1	0	0	A	104999270	T	A	104999270	3	1	309	1	0	0	0	0	1	0	0	0	7706	1580	55	5	1326	5	IL1RAPL2	23	104999270	Missense_Mutation	SNP	T	TCGA-HT-8564-01A-11D-2395-08	20436105	104999270	50271290	620	29902											
IRS4	8471	broad.mit.edu	37	X	107977802	107977803	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chrX:107977802_107977803insC	ENST00000372129.2	-	1	1848_1849	c.1772_1773insG	c.(1771-1773)ggcfs	p.G591fs		NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	591						plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						CTGAGCCTTTGCCCCCCCCAGA	0.545													8	564	---	---	---	---						C	107977803	-	C	107977802	7	5	309	1	0	1	1	0	0	0	0	0	7886	1306	46	0	2004	0	IRS4	23	107977802	Frame_Shift_Ins	INS	-	TCGA-HT-8564-01A-11D-2395-08	2978532	107977802	47292758	621	29903											
SLC6A14	11254	broad.mit.edu	37	X	115582769	115582770	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chrX:115582769_115582770insT	ENST00000371900.4	+	8	1181_1182	c.1093_1094insT	c.(1093-1095)attfs	p.I365fs		NM_007231.3	NP_009162.1	Q9UN76	S6A14_HUMAN	solute carrier family 6 (amino acid transporter), member 14	365					cellular amino acid metabolic process|response to toxin	integral to membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	23					L-Proline(DB00172)	TGGATTTGCTATTTTTTCTATA	0.332													157	49	---	---	---	---						T	115582770	-	T	115582769	7	5	309	1	0	1	1	0	0	0	0	0	14732	449	16	0	1123	0	SLC6A14	23	115582769	Frame_Shift_Ins	INS	-	TCGA-HT-8564-01A-11D-2395-08	7604967	115582769	39687791	622	29904											
USP26	83844	broad.mit.edu	37	X	132161205	132161205	+	Frame_Shift_Del	DEL	A	A	-	rs61758857		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chrX:132161205delA	ENST00000511190.1	-	6	1513	c.1044delT	c.(1042-1044)tttfs	p.F348fs	USP26_ENST00000406273.1_Frame_Shift_Del_p.F348fs|USP26_ENST00000370832.1_Frame_Shift_Del_p.F348fs	NM_031907.1	NP_114113.1	Q9BXU7	UBP26_HUMAN	ubiquitin specific peptidase 26	348					protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity	p.F348fs*7(1)		breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60	Acute lymphoblastic leukemia(192;0.000127)					AGGTATCTTTAAAAAAAAGTA	0.388													84	37	---	---	---	---						-	132161205	A	-	132161205	7	5	309	1	0	1	0	1	0	0	0	0	17117	359	13	0	1700	0	USP26	23	132161205	Frame_Shift_Del	DEL	A	TCGA-HT-8564-01A-11D-2395-08	16578436	132161205	23109355	623	29905											
ATP11C	286410	broad.mit.edu	37	X	138869332	138869334	+	Splice_Site	DEL	TCT	TCT	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chrX:138869332_138869334delTCT	ENST00000370557.1	-	15	2617_2619	c.1590_1592delAGA	c.(1588-1593)gaagaa>gaa	p.530_531EE>E	ATP11C_ENST00000359686.2_Splice_Site_p.533_534EE>E|ATP11C_ENST00000327569.3_Splice_Site_p.533_534EE>E|ATP11C_ENST00000460773.1_5'UTR|ATP11C_ENST00000361648.2_Splice_Site_p.533_534EE>E|ATP11C_ENST00000370543.1_Splice_Site_p.533_534EE>E			Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C	533					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)					AGCTACTTACTCTTCTATTTCTT	0.345													28	14	---	---	---	---						-	138869334	TCT	-	138869332	8	5	309	1	0	1	0	1	0	0	1	0	1120	1565	54	0	1924	0	ATP11C	23	138869332	Splice_Site	DEL	TCT	TCGA-HT-8564-01A-11D-2395-08	6708127	138869332	16401228	624	29906											
GDI1	2664	broad.mit.edu	37	X	153670771	153670771	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chrX:153670771G>A	ENST00000447750.2	+	10	1522	c.1187G>A	c.(1186-1188)aGc>aAc	p.S396N	GDI1_ENST00000465640.1_3'UTR	NM_001493.2	NP_001484.1	P31150	GDIA_HUMAN	GDP dissociation inhibitor 1	396					protein transport|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|midbody	GTPase activator activity|protein binding			autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	16	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GGTTGTGAGAGCCAGGTAAGC	0.612													131	31					0	0	1	0	0	A	153670771	G	A	153670771	3	1	309	1	0	0	0	0	1	0	0	0	6362	971	34	2	1225	2	GDI1	23	153670771	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	14801439	153670771	1599789	625	29907											
FAM50A	9130	broad.mit.edu	37	X	153678435	153678437	+	In_Frame_Del	DEL	GGA	GGA	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chrX:153678435_153678437delGGA	ENST00000393600.3	+	11	998_1000	c.888_890delGGA	c.(886-891)gtggag>gtg	p.E297del		NM_004699.3	NP_004690.1	Q14320	FA50A_HUMAN	family with sequence similarity 50, member A	297					spermatogenesis	nucleus		p.E297*(1)		breast(2)|central_nervous_system(1)|lung(9)|ovary(2)|skin(1)	15	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					ACGCCACTGTGGAGAAGGATGAG	0.616													93	63	---	---	---	---						-	153678437	GGA	-	153678435	7	5	309	1	0	1	0	1	0	0	0	0	5613	1335	47	0	930	0	FAM50A	23	153678435	In_Frame_Del	DEL	GGA	TCGA-HT-8564-01A-11D-2395-08	7664	153678435	1592125	626	29908											
RERE	473	broad.mit.edu	37	1	8415150	8415150	+	Missense_Mutation	SNP	T	T	G			TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr1:8415150T>G	ENST00000337907.3	-	24	5332	c.4698A>C	c.(4696-4698)ttA>ttC	p.L1566F	RERE_ENST00000400908.2_Missense_Mutation_p.L1566F|RERE_ENST00000377464.1_Missense_Mutation_p.L1298F|RERE_ENST00000476556.1_Missense_Mutation_p.L1012F|RERE_ENST00000400907.2_Missense_Mutation_p.L584F	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	1566					multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		AAATAACTTATAACTGCTTGT	0.438													17	14					0	0	1	0	0	G	8415150	T	G	8415150	3	3	310	1	0	0	0	0	1	0	0	0	13283	1403	49	4	6	4	RERE	1	8415150	Missense_Mutation	SNP	T	TCGA-HT-A4DS-01A-11D-A26M-08		8415150	240835471	1	29909											
EPHA8	2046	broad.mit.edu	37	1	22924293	22924293	+	Silent	SNP	G	G	A			TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr1:22924293G>A	ENST00000166244.3	+	11	2127	c.2055G>A	c.(2053-2055)gcG>gcA	p.A685A		NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	685	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		TGAGCGAGGCGTCCATCATGG	0.662													71	56					0	0	1	0	0	A	22924293	G	A	22924293	2	1	310	1	0	0	0	0	0	0	0	1	5201	1132	40	1		1	EPHA8	1	22924293	Silent	SNP	G	TCGA-HT-A4DS-01A-11D-A26M-08	14509143	22924293	226326328	2	29910											
RUNX3	864	broad.mit.edu	37	1	25228881	25228881	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr1:25228881G>A	ENST00000399916.1	-	6	1460	c.1022C>T	c.(1021-1023)cCg>cTg	p.P341L	RUNX3_ENST00000338888.3_Missense_Mutation_p.P341L|RUNX3_ENST00000540420.1_Missense_Mutation_p.P234L|RUNX3_ENST00000308873.6_Missense_Mutation_p.P327L	NM_001031680.2	NP_001026850.1	Q13761	RUNX3_HUMAN	runt-related transcription factor 3	327	Pro/Ser/Thr-rich.				cell proliferation|induction of apoptosis|negative regulation of cell cycle|negative regulation of epithelial cell proliferation|protein phosphorylation|transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(3)	18		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00131)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;2.85e-26)|Colorectal(126;4.35e-08)|COAD - Colon adenocarcinoma(152;1.92e-06)|GBM - Glioblastoma multiforme(114;0.000102)|STAD - Stomach adenocarcinoma(196;0.000766)|KIRC - Kidney renal clear cell carcinoma(1967;0.00148)|BRCA - Breast invasive adenocarcinoma(304;0.00173)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.136)		GTAGGGGGACGGGTTGGCCTG	0.692													10	34					0	0	1	0	0	A	25228881	G	A	25228881	3	1	310	1	0	0	0	0	1	0	0	0	13801	1116	39	1	271	1	RUNX3	1	25228881	Missense_Mutation	SNP	G	TCGA-HT-A4DS-01A-11D-A26M-08	2304588	25228881	224021740	3	29911											
IPO9	55705	broad.mit.edu	37	1	201824023	201824023	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr1:201824023T>C	ENST00000361565.4	+	8	952	c.883T>C	c.(883-885)Tgg>Cgg	p.W295R		NM_018085.4	NP_060555.2	Q96P70	IPO9_HUMAN	importin 9	295					protein import into nucleus	cytoplasm|nucleus	histone binding|protein transporter activity			cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	38						GCCTATTGTTTGGAACACCCT	0.448													13	63					0	0	1	0	0	C	201824023	T	C	201824023	3	2	310	1	0	0	0	0	1	0	0	0	7843	1812	63	3	913	3	IPO9	1	201824023	Missense_Mutation	SNP	T	TCGA-HT-A4DS-01A-11D-A26M-08	176595142	201824023	47426598	4	29912											
DYSF	8291	broad.mit.edu	37	2	71887771	71887771	+	Missense_Mutation	SNP	G	G	A	rs147056383	by1000genomes	TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr2:71887771G>A	ENST00000258104.3	+	44	5153	c.4876G>A	c.(4876-4878)Gta>Ata	p.V1626I	DYSF_ENST00000409582.3_Missense_Mutation_p.V1664I|DYSF_ENST00000409762.1_Missense_Mutation_p.V1643I|DYSF_ENST00000409744.1_Missense_Mutation_p.V1634I|DYSF_ENST00000409366.1_Missense_Mutation_p.V1648I|DYSF_ENST00000394120.2_Missense_Mutation_p.V1627I|DYSF_ENST00000409651.1_Missense_Mutation_p.V1658I|DYSF_ENST00000413539.2_Missense_Mutation_p.V1657I|DYSF_ENST00000410041.1_Missense_Mutation_p.V1644I|DYSF_ENST00000410020.3_Missense_Mutation_p.V1665I|DYSF_ENST00000429174.2_Missense_Mutation_p.V1647I|DYSF_ENST00000479049.2_3'UTR	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1626	C2 5.					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						GCTGGAGCCCGTATTTGGAAA	0.507													5	28					0	0	1	0	0	A	71887771	G	A	71887771	3	1	310	1	0	0	0	0	1	0	0	0	4885	1145	40	1	5309	1	DYSF	2	71887771	Missense_Mutation	SNP	G	TCGA-HT-A4DS-01A-11D-A26M-08		71887771	171311602	5	29913											
COL4A4	1286	broad.mit.edu	37	2	227876966	227876966	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr2:227876966C>T	ENST00000396625.3	-	45	4471	c.4264G>A	c.(4264-4266)Gtc>Atc	p.V1422I	COL4A4_ENST00000329662.7_Missense_Mutation_p.V1419I	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	1422	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		GACCCAGGGACGCCATCCACA	0.567													15	31					0	0	1	0	0	T	227876966	C	T	227876966	3	4	310	1	0	0	0	0	1	0	0	0	3716	536	19	1	824	1	COL4A4	2	227876966	Missense_Mutation	SNP	C	TCGA-HT-A4DS-01A-11D-A26M-08	155989195	227876966	15322407	6	29914											
SAG	6295	broad.mit.edu	37	2	234235841	234235841	+	Missense_Mutation	SNP	G	G	C			TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr2:234235841G>C	ENST00000409110.1	+	7	740	c.510G>C	c.(508-510)aaG>aaC	p.K170N	SAG_ENST00000449594.2_Missense_Mutation_p.K36N	NM_000541.4	NP_000532.2	P10523	ARRS_HUMAN	S-antigen; retina and pineal gland (arrestin)	170					rhodopsin mediated phototransduction|rhodopsin mediated signaling pathway		protein phosphatase inhibitor activity			cervix(1)|kidney(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	9		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.018)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.054)		Epithelial(121;2.86e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00608)|Lung(119;0.00714)|GBM - Glioblastoma multiforme(43;0.207)		AAATCCCCAAGAAGTAAGAGT	0.552													69	50					0	0	1	0	0	C	234235841	G	C	234235841	3	2	310	1	0	0	0	0	1	0	0	0	13860	933	33	4	532	4	SAG	2	234235841	Missense_Mutation	SNP	G	TCGA-HT-A4DS-01A-11D-A26M-08	6358875	234235841	8963532	7	29915											
TTLL3	26140	broad.mit.edu	37	3	9870897	9870897	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr3:9870897G>A	ENST00000383827.1	+	4	3017	c.736G>A	c.(736-738)Gtg>Atg	p.V246M	TTLL3_ENST00000547186.1_Missense_Mutation_p.V458M|TTLL3_ENST00000455274.1_Missense_Mutation_p.V246M|TTLL3_ENST00000427853.3_Missense_Mutation_p.V246M|TTLL3_ENST00000426895.4_Missense_Mutation_p.V601M|TTLL3_ENST00000397241.1_Missense_Mutation_p.V246M|ARPC4-TTLL3_ENST00000397256.1_Missense_Mutation_p.V519M|TTLL3_ENST00000430793.1_Missense_Mutation_p.V246M|TTLL3_ENST00000466245.1_3'UTR			Q9Y4R7	TTLL3_HUMAN	tubulin tyrosine ligase-like family, member 3	458	TTL.				axoneme assembly|cilium assembly|protein polyglycylation	cilium axoneme|cytoplasm|microtubule	protein-glycine ligase activity, initiating|tubulin-tyrosine ligase activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(2)|skin(1)	26	Medulloblastoma(99;0.227)					CGCTGACTTCGTGTTCGGGGA	0.617													33	21					0	0	1	0	0	A	9870897	G	A	9870897	3	1	310	1	0	0	0	0	1	0	0	0	16790	1145	40	1	1406	1	TTLL3	3	9870897	Missense_Mutation	SNP	G	TCGA-HT-A4DS-01A-11D-A26M-08		9870897	188151533	8	29916											
ZNF654	55279	broad.mit.edu	37	3	88189554	88189554	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr3:88189554T>C	ENST00000309495.5	+	1	1301	c.1094T>C	c.(1093-1095)gTt>gCt	p.V365A	CGGBP1_ENST00000462901.1_Intron	NM_018293.2	NP_060763.2	Q8IZM8	ZN654_HUMAN	zinc finger protein 654	365					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(3)	12		Lung NSC(201;0.0283)		UCEC - Uterine corpus endometrioid carcinoma (27;0.194)|LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00661)		AGTCTGCCAGTTTCTACTAGC	0.358													6	15					0	0	1	0	0	C	88189554	T	C	88189554	3	2	310	1	0	0	0	0	1	0	0	0	18124	1725	60	3	1096	3	ZNF654	3	88189554	Missense_Mutation	SNP	T	TCGA-HT-A4DS-01A-11D-A26M-08	78318657	88189554	109832876	9	29917											
HRG	3273	broad.mit.edu	37	3	186383868	186383868	+	Silent	SNP	G	G	A			TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr3:186383868G>A	ENST00000232003.4	+	1	128	c.48G>A	c.(46-48)tcG>tcA	p.S16S	HRG_ENST00000468154.1_3'UTR	NM_000412.2	NP_000403.1	P04196	HRG_HUMAN	histidine-rich glycoprotein	16					fibrinolysis|platelet activation|platelet degranulation	extracellular region|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(12)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0683)		TGCAGTATTCGTGTGCCGTGA	0.468													12	40					0	0	1	0	0	A	186383868	G	A	186383868	2	1	310	1	0	0	0	0	0	0	0	1	7395	1132	40	1		1	HRG	3	186383868	Silent	SNP	G	TCGA-HT-A4DS-01A-11D-A26M-08	98194314	186383868	11638562	10	29918											
SLC2A9	56606	broad.mit.edu	37	4	9987317	9987317	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr4:9987317G>A	ENST00000506583.1	-	6	641	c.424C>T	c.(424-426)Cgc>Tgc	p.R142C	SLC2A9_ENST00000309065.3_Missense_Mutation_p.R142C|SLC2A9_ENST00000264784.3_Missense_Mutation_p.R171C			Q9NRM0	GTR9_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 9	171					glucose transport|urate metabolic process	integral to membrane|plasma membrane	sugar:hydrogen symporter activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(1)	35						ATGATGAAGCGTCCCACGATG	0.517													12	29					0	0	1	0	0	A	9987317	G	A	9987317	3	1	310	1	0	0	0	0	1	0	0	0	14607	1145	40	1	1147	1	SLC2A9	4	9987317	Missense_Mutation	SNP	G	TCGA-HT-A4DS-01A-11D-A26M-08		9987317	181166959	11	29919											
MUC7	4589	broad.mit.edu	37	4	71347534	71347534	+	Missense_Mutation	SNP	G	G	A	rs145866670		TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr4:71347534G>A	ENST00000413702.1	+	4	1361	c.1073G>A	c.(1072-1074)cGa>cAa	p.R358Q	MUC7_ENST00000456088.1_Missense_Mutation_p.R358Q|MUC7_ENST00000304887.5_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	0.358													14	24					0	0	1	0	0	A	71347534	G	A	71347534	3	1	310	1	0	0	0	0	1	0	0	0	10029	1058	37	1	1079	1	MUC7	4	71347534	Missense_Mutation	SNP	G	TCGA-HT-A4DS-01A-11D-A26M-08	61360217	71347534	119806742	12	29920											
FRAS1	80144	broad.mit.edu	37	4	79387412	79387412	+	Silent	SNP	C	C	T			TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr4:79387412C>T	ENST00000264895.6	+	50	7520	c.7080C>T	c.(7078-7080)atC>atT	p.I2360I		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	2359					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						ATGGCACCATCGAGCGAACCA	0.547													24	54					0	0	1	0	0	T	79387412	C	T	79387412	2	4	310	1	0	0	0	0	0	0	0	1	6076	874	31	1		1	FRAS1	4	79387412	Silent	SNP	C	TCGA-HT-A4DS-01A-11D-A26M-08	8039878	79387412	111766864	13	29921											
SLC6A19	340024	broad.mit.edu	37	5	1217005	1217005	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr5:1217005C>T	ENST00000304460.10	+	8	1174	c.1118C>T	c.(1117-1119)gCg>gTg	p.A373V		NM_001003841.2	NP_001003841.1	Q695T7	S6A19_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 19	373					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	p.A373V(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			TCCGACCCCGCGGCCTACGCG	0.622													53	128					0	0	1	0	0	T	1217005	C	T	1217005	3	4	310	1	0	0	0	0	1	0	0	0	14737	768	27	1	1148	1	SLC6A19	5	1217005	Missense_Mutation	SNP	C	TCGA-HT-A4DS-01A-11D-A26M-08		1217005	179698255	14	29922											
ADAMTS16	170690	broad.mit.edu	37	5	5222929	5222929	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr5:5222929C>T	ENST00000274181.7	+	11	1771	c.1633C>T	c.(1633-1635)Cgt>Tgt	p.R545C	ADAMTS16_ENST00000511368.1_Missense_Mutation_p.R545C	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	545	Disintegrin.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						GTGGTGCCATCGTATTGGAAG	0.368													16	23					0	0	1	0	0	T	5222929	C	T	5222929	3	4	310	1	0	0	0	0	1	0	0	0	260	884	31	1	1675	1	ADAMTS16	5	5222929	Missense_Mutation	SNP	C	TCGA-HT-A4DS-01A-11D-A26M-08	4005924	5222929	175692331	15	29923											
PCDHA1	56147	broad.mit.edu	37	5	140166983	140166983	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr5:140166983G>A	ENST00000504120.2	+	1	1108	c.1108G>A	c.(1108-1110)Gcc>Acc	p.A370T	PCDHA1_ENST00000394633.3_Missense_Mutation_p.A370T|PCDHA1_ENST00000378133.3_Missense_Mutation_p.A370T	NM_018900.2	NP_061723.1														breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACCGTCATCGCCCTCATCAC	0.527													14	46					0	0	1	0	0	A	140166983	G	A	140166983	3	1	310	1	0	0	0	0	1	0	0	0	11566	1087	38	1	1110	1	PCDHA1	5	140166983	Missense_Mutation	SNP	G	TCGA-HT-A4DS-01A-11D-A26M-08	134944054	140166983	40748277	16	29924											
PCDHAC2	56134	broad.mit.edu	37	5	140348188	140348188	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr5:140348188G>A	ENST00000289269.5	+	1	2369	c.1837G>A	c.(1837-1839)Gac>Aac	p.D613N	PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHAC1_ENST00000253807.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000529310.1_Intron	NM_018899.5|NM_031883.2	NP_061722.1|NP_114089.1	Q9Y5I4	PCDC2_HUMAN		613	Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TATGGACTCAGACTCTGGGCA	0.512													3	32					0	0	1	0	0	A	140348188	G	A	140348188	3	1	310	1	0	0	0	0	1	0	0	0	11580	942	33	2	1839	2	PCDHAC2	5	140348188	Missense_Mutation	SNP	G	TCGA-HT-A4DS-01A-11D-A26M-08	181205	140348188	40567072	17	29925											
GABRA6	2559	broad.mit.edu	37	5	161113291	161113291	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr5:161113291G>A	ENST00000523217.1	+	2	336	c.94G>A	c.(94-96)Gtc>Atc	p.V32I	GABRA6_ENST00000522269.1_3'UTR|GABRA6_ENST00000274545.5_Missense_Mutation_p.V32I	NM_000811.2	NP_000802.2	Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	32					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	CTCAGAAAACGTCAGTCGGAT	0.488										TCGA Ovarian(5;0.080)			26	35					0	0	1	0	0	A	161113291	G	A	161113291	3	1	310	1	0	0	0	0	1	0	0	0	6200	1145	40	1	100	1	GABRA6	5	161113291	Missense_Mutation	SNP	G	TCGA-HT-A4DS-01A-11D-A26M-08	20765103	161113291	19801969	18	29926											
OR2V2	285659	broad.mit.edu	37	5	180582042	180582042	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr5:180582042G>A	ENST00000328275.1	+	1	100	c.100G>A	c.(100-102)Gcg>Acg	p.A34T		NM_206880.1	NP_996763.1	Q96R30	OR2V2_HUMAN	olfactory receptor, family 2, subfamily V, member 2	34			A -> V (in dbSNP:rs17617270).		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	all_cancers(89;8.26e-06)|all_epithelial(37;1.02e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.0103)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0652)|all_lung(500;0.149)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CGTGGTTATGGCGGTCTTCAC	0.537													38	84					0	0	1	0	0	A	180582042	G	A	180582042	3	1	310	1	0	0	0	0	1	0	0	0	11079	1203	42	2	102	2	OR2V2	5	180582042	Missense_Mutation	SNP	G	TCGA-HT-A4DS-01A-11D-A26M-08	19468751	180582042	333218	19	29927											
SOX4	6659	broad.mit.edu	37	6	21594838	21594838	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr6:21594838G>T	ENST00000244745.1	+	1	867	c.73G>T	c.(73-75)Ggc>Tgc	p.G25C	SOX4_ENST00000543472.1_Missense_Mutation_p.G25C	NM_003107.2	NP_003098.1	Q06945	SOX4_HUMAN	SRY (sex determining region Y)-box 4	25					canonical Wnt receptor signaling pathway|cardiac ventricle formation|cellular response to glucose stimulus|DNA damage response, detection of DNA damage|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|glial cell development|glial cell proliferation|limb bud formation|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of protein export from nucleus|negative regulation of protein ubiquitination|neural tube formation|neuroepithelial cell differentiation|noradrenergic neuron differentiation|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|positive regulation of insulin secretion|positive regulation of N-terminal peptidyl-lysine acetylation|positive regulation of translation|pro-B cell differentiation|protein stabilization|skeletal system development|spinal cord motor neuron differentiation|sympathetic nervous system development|T cell differentiation	mitochondrion|nucleus	core promoter sequence-specific DNA binding|protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|RNA polymerase II transcription coactivator activity			kidney(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	6	Ovarian(93;0.163)		all cancers(50;0.0751)|Epithelial(50;0.155)			CTCGGGCGCCGGCCTCGAGCT	0.731													4	18					0.014758	0.0152192	1	1	0	T	21594838	G	T	21594838	3	4	310	1	0	0	0	0	1	0	0	0	15007	1116	39	5	75	5	SOX4	6	21594838	Missense_Mutation	SNP	G	TCGA-HT-A4DS-01A-11D-A26M-08		21594838	149520229	20	29928											
MICB	4277	broad.mit.edu	37	6	31473467	31473467	+	Silent	SNP	G	G	A			TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr6:31473467G>A	ENST00000252229.6	+	2	223	c.144G>A	c.(142-144)gaG>gaA	p.E48E	MICB_ENST00000399150.3_Silent_p.E48E|MICB_ENST00000538442.1_Silent_p.E16E	NM_005931.3	NP_005922.2	Q29980	MICB_HUMAN	MHC class I polypeptide-related sequence B	48					antigen processing and presentation|cytolysis|gamma-delta T cell activation|immune response|immune response-activating cell surface receptor signaling pathway|interspecies interaction between organisms|negative regulation of defense response to virus by host|response to heat|response to oxidative stress|response to retinoic acid	integral to plasma membrane|MHC class I protein complex	natural killer cell lectin-like receptor binding			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)	13						TTCTCGCTGAGGGACATCTGG	0.557													25	21					0	0	1	0	0	A	31473467	G	A	31473467	2	1	310	1	0	0	0	0	0	0	0	1	9623	991	35	2		2	MICB	6	31473467	Silent	SNP	G	TCGA-HT-A4DS-01A-11D-A26M-08	9878629	31473467	139641600	21	29929											
SNAP91	9892	broad.mit.edu	37	6	84284808	84284808	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr6:84284808delT	ENST00000428679.2	-	26	2956	c.2363delA	c.(2362-2364)aagfs	p.K788fs	SNAP91_ENST00000520213.1_Frame_Shift_Del_p.K481fs|SNAP91_ENST00000521743.1_Frame_Shift_Del_p.K788fs|SNAP91_ENST00000369694.2_Frame_Shift_Del_p.K788fs|SNAP91_ENST00000437520.1_Frame_Shift_Del_p.K481fs|SNAP91_ENST00000521485.1_Frame_Shift_Del_p.K783fs|SNAP91_ENST00000439399.2_Frame_Shift_Del_p.K788fs|SNAP91_ENST00000195649.6_Frame_Shift_Del_p.K783fs|SNAP91_ENST00000520302.1_Frame_Shift_Del_p.K758fs			O60641	AP180_HUMAN	synaptosomal-associated protein, 91kDa	788					clathrin coat assembly	clathrin coat|coated pit|plasma membrane	1-phosphatidylinositol binding|clathrin binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		ACCAGTCAACTTTTTCTCTCC	0.453													2	4	---	---	---	---						-	84284808	T	-	84284808	7	5	310	1	0	1	0	1	0	0	0	0	14887	1609	56	0	376	0	SNAP91	6	84284808	Frame_Shift_Del	DEL	T	TCGA-HT-A4DS-01A-11D-A26M-08	52811341	84284808	86830259	22	29930											
PKD1L1	168507	broad.mit.edu	37	7	47851503	47851503	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr7:47851503G>A	ENST00000289672.2	-	50	7543	c.7493C>T	c.(7492-7494)aCg>aTg	p.T2498M	C7orf69_ENST00000418326.2_Intron|C7orf69_ENST00000258776.4_Intron	NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	2498					cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						GAGACTCCCCGTAGGGAGGAT	0.582													7	22					0	0	1	0	0	A	47851503	G	A	47851503	3	1	310	1	0	0	0	0	1	0	0	0	12012	1145	40	1	1088	1	PKD1L1	7	47851503	Missense_Mutation	SNP	G	TCGA-HT-A4DS-01A-11D-A26M-08		47851503	111287160	23	29931											
RP1L1	94137	broad.mit.edu	37	8	10470654	10470654	+	Silent	SNP	G	G	A			TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr8:10470654G>A	ENST00000382483.3	-	4	1177	c.954C>T	c.(952-954)gaC>gaT	p.D318D		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	318					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		ACAGGCTGCCGTCCTCATTCA	0.662													51	49					0	0	1	0	0	A	10470654	G	A	10470654	2	1	310	1	0	0	0	0	0	0	0	1	13585	1136	40	1		1	RP1L1	8	10470654	Silent	SNP	G	TCGA-HT-A4DS-01A-11D-A26M-08		10470654	135893368	24	29932											
LRRC32	2615	broad.mit.edu	37	11	76371628	76371628	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr11:76371628G>T	ENST00000407242.2	-	3	1251	c.1009C>A	c.(1009-1011)Cac>Aac	p.H337N	LRRC32_ENST00000404995.1_Missense_Mutation_p.H337N|LRRC32_ENST00000464145.1_Intron|AP001189.4_ENST00000447519.1_RNA|LRRC32_ENST00000260061.5_Missense_Mutation_p.H337N	NM_005512.2	NP_005503.1	Q14392	LRC32_HUMAN	leucine rich repeat containing 32	337						integral to plasma membrane				endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1)	31						GAGGTCAGGTGCTCAAGAAAG	0.587													9	17					0.00448238	0.00477157	1	1	0	T	76371628	G	T	76371628	3	4	310	1	0	0	0	0	1	0	0	0	9032	1319	46	5	983	5	LRRC32	11	76371628	Missense_Mutation	SNP	G	TCGA-HT-A4DS-01A-11D-A26M-08		76371628	58634888	25	29933											
LTA4H	4048	broad.mit.edu	37	12	96410892	96410892	+	Splice_Site	SNP	C	C	G			TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr12:96410892C>G	ENST00000228740.2	-	10	1018	c.877G>C	c.(877-879)Gtc>Ctc	p.V293L	LTA4H_ENST00000413268.2_Splice_Site_p.V269L|LTA4H_ENST00000552789.1_Splice_Site_p.V269L	NM_000895.2	NP_000886.1	P09960	LKHA4_HUMAN	leukotriene A4 hydrolase	293					hormone biosynthetic process|inflammatory response|leukotriene biosynthetic process|peptide catabolic process|prostanoid metabolic process|proteolysis	cytosol|nucleus	aminopeptidase activity|epoxide hydrolase activity|leukotriene-A4 hydrolase activity|metallopeptidase activity|protein binding|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|kidney(3)|lung(4)|skin(2)|stomach(1)	12						TGTGCAATGACCTAAAGAAAA	0.299													27	20					0	0	1	0	0	G	96410892	C	G	96410892	5	3	310	1	0	0	0	0	0	0	1	0	9114	521	18	5	998	5	LTA4H	12	96410892	Splice_Site	SNP	C	TCGA-HT-A4DS-01A-11D-A26M-08		96410892	37441003	26	29934											
TDG	6996	broad.mit.edu	37	12	104374741	104374741	+	Splice_Site	SNP	G	G	T			TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr12:104374741G>T	ENST00000392872.3	+	4	712		c.e4+1		TDG_ENST00000266775.9_Splice_Site|TDG_ENST00000542036.1_Splice_Site|TDG_ENST00000544861.1_Splice_Site	NM_003211.4	NP_003202.3	Q13569	TDG_HUMAN	thymine-DNA glycosylase						depyrimidination|mismatch repair	nucleoplasm	damaged DNA binding|mismatched DNA binding|protein binding|pyrimidine-specific mismatch base pair DNA N-glycosylase activity			large_intestine(2)|lung(14)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(302;0.00114)		AACCATTTTTGTAAGTGGTTA	0.318								Base excision repair (BER), DNA glycosylases					33	12					1.26612e-14	1.46603e-14	1	1	0	T	104374741	G	T	104374741	5	4	310	1	0	0	0	0	0	0	1	0	15784	1391	48	5	493	5	TDG	12	104374741	Splice_Site	SNP	G	TCGA-HT-A4DS-01A-11D-A26M-08	7963849	104374741	29477154	27	29935											
PCNX	22990	broad.mit.edu	37	14	71444691	71444691	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr14:71444691C>T	ENST00000304743.2	+	6	2083	c.1637C>T	c.(1636-1638)tCt>tTt	p.S546F	PCNX_ENST00000439984.3_Missense_Mutation_p.S546F|PCNX_ENST00000238570.5_Missense_Mutation_p.S546F	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	546						integral to membrane				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		CGACCTAAATCTTCTAGCGTA	0.468													22	22					0	0	1	0	0	T	71444691	C	T	71444691	3	4	310	1	0	0	0	0	1	0	0	0	11638	913	32	2	1659	2	PCNX	14	71444691	Missense_Mutation	SNP	C	TCGA-HT-A4DS-01A-11D-A26M-08		71444691	35904849	28	29936											
DYNC1H1	1778	broad.mit.edu	37	14	102474561	102474561	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr14:102474561G>T	ENST00000360184.4	+	29	6028	c.5864G>T	c.(5863-5865)gGc>gTc	p.G1955V		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	1955	AAA 1 (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						GGTGCCTGGGGCTGCTTTGAC	0.587													20	15					6.44725e-10	7.33653e-10	1	1	0	T	102474561	G	T	102474561	3	4	310	1	0	0	0	0	1	0	0	0	4867	1203	42	5	5978	5	DYNC1H1	14	102474561	Missense_Mutation	SNP	G	TCGA-HT-A4DS-01A-11D-A26M-08	31029870	102474561	4874979	29	29937											
OTUD7A	161725	broad.mit.edu	37	15	31776380	31776380	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr15:31776380C>T	ENST00000382902.1	-	11	2011	c.1919G>A	c.(1918-1920)cGc>cAc	p.R640H	OTUD7A_ENST00000307050.4_Missense_Mutation_p.R633H			Q8TE49	OTU7A_HUMAN	OTU domain containing 7A	633						cytoplasm|nucleus	cysteine-type peptidase activity|DNA binding|zinc ion binding			endometrium(7)|large_intestine(4)|lung(11)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	30		all_lung(180;1.6e-09)		all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208)		GATGAACTTGCGCTCCCCCTG	0.672													5	11					0	0	1	0	0	T	31776380	C	T	31776380	3	4	310	1	0	0	0	0	1	0	0	0	11365	768	27	1	886	1	OTUD7A	15	31776380	Missense_Mutation	SNP	C	TCGA-HT-A4DS-01A-11D-A26M-08		31776380	70755012	30	29938											
HIRIP3	8479	broad.mit.edu	37	16	30006466	30006466	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr16:30006466T>C	ENST00000279392.3	-	3	1089	c.259A>G	c.(259-261)Agc>Ggc	p.S87G	HIRIP3_ENST00000566471.1_Intron|HIRIP3_ENST00000564026.1_Missense_Mutation_p.S87G	NM_003609.4	NP_003600.2	Q9BW71	HIRP3_HUMAN	HIRA interacting protein 3	87					chromatin assembly or disassembly	nucleus	protein binding			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(9)	17						TCCGGGTCGCTACAAGGGGTG	0.552													9	109					0	0	1	0	0	C	30006466	T	C	30006466	3	2	310	1	0	0	0	0	1	0	0	0	7162	1522	53	3	1431	3	HIRIP3	16	30006466	Missense_Mutation	SNP	T	TCGA-HT-A4DS-01A-11D-A26M-08		30006466	60348287	31	29939											
SPNS3	201305	broad.mit.edu	37	17	4356345	4356345	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr17:4356345G>A	ENST00000355530.2	+	8	1238	c.958G>A	c.(958-960)Gtc>Atc	p.V320I	SPNS3_ENST00000333476.2_Missense_Mutation_p.V193I|SPNS3_ENST00000576069.1_3'UTR	NM_182538.4	NP_872344.3	Q6ZMD2	SPNS3_HUMAN	spinster homolog 3 (Drosophila)	320					lipid transport|transmembrane transport	integral to membrane		p.V320I(1)		NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(6)|stomach(2)	28						CATGACCGGCGTCATTGGGGT	0.572													36	18					0	0	1	0	0	A	4356345	G	A	4356345	3	1	310	1	0	0	0	0	1	0	0	0	15132	1145	40	1	988	1	SPNS3	17	4356345	Missense_Mutation	SNP	G	TCGA-HT-A4DS-01A-11D-A26M-08		4356345	76838865	32	29940											
TP53	7157	broad.mit.edu	37	17	7577120	7577120	+	Missense_Mutation	SNP	C	C	T	rs28934576	by1000genomes	TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr17:7577120C>T	ENST00000420246.2	-	8	950	c.818G>A	c.(817-819)cGt>cAt	p.R273H	TP53_ENST00000445888.2_Missense_Mutation_p.R273H|TP53_ENST00000269305.4_Missense_Mutation_p.R273H|TP53_ENST00000455263.2_Missense_Mutation_p.R273H|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.R273H	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	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).		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.R273H(521)|p.R273L(93)|p.R273P(32)|p.0?(8)|p.?(2)|p.R273fs*32(2)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273S(1)|p.E258fs*71(1)|p.R273fs*72(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.R273fs*33(1)|p.E271_R273delEVR(1)|p.V272_K292del21(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	0.542	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)			5	3					0	0	1	0	0	T	7577120	C	T	7577120	3	4	310	1	0	0	0	0	1	0	0	0	16442	536	19	1	468	1	TP53	17	7577120	Missense_Mutation	SNP	C	TCGA-HT-A4DS-01A-11D-A26M-08	3220775	7577120	73618090	33	29941											
NF1	4763	broad.mit.edu	37	17	29527568	29527569	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr17:29527568_29527569delCT	ENST00000358273.4	+	9	1400_1401	c.1017_1018delCT	c.(1015-1020)aactctfs	p.S340fs	NF1_ENST00000356175.3_Frame_Shift_Del_p.S340fs|NF1_ENST00000431387.4_Frame_Shift_Del_p.S340fs	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	340					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(6)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		GGGAAGATAACTCTGTCATTTT	0.381			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			17	8	---	---	---	---						-	29527569	CT	-	29527568	7	5	310	1	0	1	0	1	0	0	0	0	10403	564	20	0	1051	0	NF1	17	29527568	Frame_Shift_Del	DEL	CT	TCGA-HT-A4DS-01A-11D-A26M-08	21950448	29527568	51667642	34	29942											
LRRC59	55379	broad.mit.edu	37	17	48465454	48465454	+	Missense_Mutation	SNP	G	G	A	rs140038553		TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr17:48465454G>A	ENST00000225972.7	-	5	704	c.469C>T	c.(469-471)Cgg>Tgg	p.R157W		NM_018509.3	NP_060979.2	Q96AG4	LRC59_HUMAN	leucine rich repeat containing 59	157						endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial nucleoid	protein binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	13	Breast(11;5.62e-19)		BRCA - Breast invasive adenocarcinoma(22;2.43e-08)			TGCCTCTCCCGCTCCTGATCT	0.527													76	42					0	0	1	0	0	A	48465454	G	A	48465454	3	1	310	1	0	0	0	0	1	0	0	0	9060	1086	38	1	466	1	LRRC59	17	48465454	Missense_Mutation	SNP	G	TCGA-HT-A4DS-01A-11D-A26M-08	18937886	48465454	32729756	35	29943											
ST8SIA5	29906	broad.mit.edu	37	18	44260408	44260408	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr18:44260408G>A	ENST00000315087.7	-	7	1388	c.728C>T	c.(727-729)tCg>tTg	p.S243L	ST8SIA5_ENST00000536490.1_Missense_Mutation_p.S212L|ST8SIA5_ENST00000590497.1_5'UTR|ST8SIA5_ENST00000538168.1_Missense_Mutation_p.S279L	NM_013305.4	NP_037437.2	O15466	SIA8E_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5	243					glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane				kidney(1)|large_intestine(10)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	22						CAGCAGCACCGACGCGTTCTC	0.607													4	5					0	0	1	0	0	A	44260408	G	A	44260408	3	1	310	1	0	0	0	0	1	0	0	0	15291	1059	37	1	406	1	ST8SIA5	18	44260408	Missense_Mutation	SNP	G	TCGA-HT-A4DS-01A-11D-A26M-08		44260408	33816840	36	29944											
GRIN3B	116444	broad.mit.edu	37	19	1004802	1004802	+	Silent	SNP	C	C	T	rs139557341		TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr19:1004802C>T	ENST00000234389.3	+	3	1321	c.1302C>T	c.(1300-1302)gaC>gaT	p.D434D	GRIN3B_ENST00000588335.1_3'UTR	NM_138690.1	NP_619635.1	O60391	NMD3B_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3B	434					ionotropic glutamate receptor signaling pathway|protein insertion into membrane|regulation of calcium ion transport	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|ionotropic glutamate receptor activity|neurotransmitter receptor activity			breast(1)|kidney(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000226)|all_lung(49;0.000353)|Breast(49;0.00066)		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)	Glycine(DB00145)|L-Glutamic Acid(DB00142)|Orphenadrine(DB01173)	GTGATCCAGACGAAGACGGGC	0.677													4	73					0	0	1	0	0	T	1004802	C	T	1004802	2	4	310	1	0	0	0	0	0	0	0	1	6825	535	19	1		1	GRIN3B	19	1004802	Silent	SNP	C	TCGA-HT-A4DS-01A-11D-A26M-08		1004802	58124181	37	29945											
BEST2	54831	broad.mit.edu	37	19	12866569	12866569	+	Silent	SNP	C	C	T			TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr19:12866569C>T	ENST00000549706.1	+	7	1179	c.855C>T	c.(853-855)gcC>gcT	p.A285A	BEST2_ENST00000042931.1_Silent_p.A285A|BEST2_ENST00000553030.1_Silent_p.A285A			Q8NFU1	BEST2_HUMAN	bestrophin 2	285					membrane depolarization|sensory perception of smell	chloride channel complex|cilium|plasma membrane	chloride channel activity			breast(3)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)	12						TCTTCTACGCCGGCTGGCTCA	0.582													3	30					0	0	1	0	0	T	12866569	C	T	12866569	2	4	310	1	0	0	0	0	0	0	0	1	1403	639	23	1		1	BEST2	19	12866569	Silent	SNP	C	TCGA-HT-A4DS-01A-11D-A26M-08	11861767	12866569	46262414	38	29946											
ZNF536	9745	broad.mit.edu	37	19	31040264	31040264	+	Silent	SNP	G	G	A			TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr19:31040264G>A	ENST00000355537.3	+	4	3885	c.3738G>A	c.(3736-3738)gcG>gcA	p.A1246A		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	1246					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	p.A1246A(1)		NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					ACCCCTTGGCGGGCCTGCCAA	0.632													12	15					0	0	1	0	0	A	31040264	G	A	31040264	2	1	310	1	0	0	0	0	0	0	0	1	18031	1103	39	1		1	ZNF536	19	31040264	Silent	SNP	G	TCGA-HT-A4DS-01A-11D-A26M-08	18173695	31040264	28088719	39	29947											
DENND2C	163259	broad.mit.edu	37	1	115151483	115151483	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A4DV-01A-11D-A26M-08	TCGA-HT-A4DV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e51b8c-12e4-4a72-9412-8ecef2bd07b6	58d0d6e7-274b-47d4-bf28-aabce38ffaca	g.chr1:115151483G>A	ENST00000393274.1	-	10	2006	c.1381C>T	c.(1381-1383)Cgc>Tgc	p.R461C	DENND2C_ENST00000393277.1_Missense_Mutation_p.R461C|DENND2C_ENST00000393276.3_Missense_Mutation_p.R404C|DENND2C_ENST00000481894.1_5'UTR	NM_001256404.1	NP_001243333.1	Q68D51	DEN2C_HUMAN	DENN/MADD domain containing 2C	461										NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3)	37	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TGTGCTAAGCGTTTATGGCGA	0.438													7	21					0	0	1	0	0	A	115151483	G	A	115151483	3	1	311	1	0	0	0	0	1	0	0	0	4458	1145	40	1	1453	1	DENND2C	1	115151483	Missense_Mutation	SNP	G	TCGA-HT-A4DV-01A-11D-A26M-08		115151483	134099138	1	29948											
APOBEC4	403314	broad.mit.edu	37	1	183617594	183617594	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A4DV-01A-11D-A26M-08	TCGA-HT-A4DV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e51b8c-12e4-4a72-9412-8ecef2bd07b6	58d0d6e7-274b-47d4-bf28-aabce38ffaca	g.chr1:183617594G>A	ENST00000308641.4	-	2	594	c.323C>T	c.(322-324)gCc>gTc	p.A108V	RGL1_ENST00000536277.1_Intron|RGL1_ENST00000304685.4_Intron|APOBEC4_ENST00000481562.1_Intron	NM_203454.2	NP_982279.1	Q8WW27	ABEC4_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 4 (putative)	108					mRNA processing		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|zinc ion binding			NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(6)|skin(1)	21						ATTGTATATGGCTGAGTCAAG	0.408													7	50					0	0	1	0	0	A	183617594	G	A	183617594	3	1	311	1	0	0	0	0	1	0	0	0	793	1203	42	2	784	2	APOBEC4	1	183617594	Missense_Mutation	SNP	G	TCGA-HT-A4DV-01A-11D-A26M-08	68466111	183617594	65633027	2	29949											
ANKRD23	200539	broad.mit.edu	37	2	97506180	97506180	+	Silent	SNP	T	T	A			TCGA-HT-A4DV-01A-11D-A26M-08	TCGA-HT-A4DV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e51b8c-12e4-4a72-9412-8ecef2bd07b6	58d0d6e7-274b-47d4-bf28-aabce38ffaca	g.chr2:97506180T>A	ENST00000318357.4	-	5	539	c.498A>T	c.(496-498)gcA>gcT	p.A166A	ANKRD23_ENST00000476975.1_5'UTR|ANKRD23_ENST00000418232.1_Silent_p.A166A|ANKRD23_ENST00000331001.2_Silent_p.A124A	NM_144994.7	NP_659431.5	Q86SG2	ANR23_HUMAN	ankyrin repeat domain 23	166						nucleus				endometrium(2)|kidney(1)|lung(4)|ovary(1)|prostate(1)	9						CTGTGGCACCTGCCACCAGCA	0.622													6	20					0	0	1	0	0	A	97506180	T	A	97506180	2	1	311	1	0	0	0	0	0	0	0	1	648	1567	55	5		5	ANKRD23	2	97506180	Silent	SNP	T	TCGA-HT-A4DV-01A-11D-A26M-08		97506180	145693193	3	29950											
CNTNAP5	129684	broad.mit.edu	37	2	125204403	125204403	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HT-A4DV-01A-11D-A26M-08	TCGA-HT-A4DV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e51b8c-12e4-4a72-9412-8ecef2bd07b6	58d0d6e7-274b-47d4-bf28-aabce38ffaca	g.chr2:125204403G>A	ENST00000431078.1	+	6	1171	c.807G>A	c.(805-807)tgG>tgA	p.W269*		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	269	Laminin G-like 1.				cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		ACCAGCACTGGCACTCGGTCC	0.612													3	38					0	0	1	0	0	A	125204403	G	A	125204403	4	1	311	1	0	0	0	0	0	1	0	0	3673	1212	42	2	829	2	CNTNAP5	2	125204403	Nonsense_Mutation	SNP	G	TCGA-HT-A4DV-01A-11D-A26M-08	27698223	125204403	117994970	4	29951											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-HT-A4DV-01A-11D-A26M-08	TCGA-HT-A4DV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e51b8c-12e4-4a72-9412-8ecef2bd07b6	58d0d6e7-274b-47d4-bf28-aabce38ffaca	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								5	23					0	0	1	0	0	T	209113112	C	T	209113112	3	4	311	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HT-A4DV-01A-11D-A26M-08	83908709	209113112	34086261	5	29952											
HDLBP	3069	broad.mit.edu	37	2	242176036	242176036	+	Silent	SNP	A	A	C			TCGA-HT-A4DV-01A-11D-A26M-08	TCGA-HT-A4DV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e51b8c-12e4-4a72-9412-8ecef2bd07b6	58d0d6e7-274b-47d4-bf28-aabce38ffaca	g.chr2:242176036A>C	ENST00000391975.1	-	21	3125	c.2898T>G	c.(2896-2898)gcT>gcG	p.A966A	HDLBP_ENST00000391976.2_Silent_p.A966A|HDLBP_ENST00000310931.4_Silent_p.A966A|HDLBP_ENST00000427183.2_Silent_p.A933A	NM_203346.3	NP_976221	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein	966	KH 11.				cholesterol metabolic process|lipid transport	cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane	lipid binding|protein binding|RNA binding			breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)		ATACCTCCAGAGCTTCCTTGG	0.612													17	77					0	0	1	0	0	C	242176036	A	C	242176036	2	2	311	1	0	0	0	0	0	0	0	1	7066	291	11	5		5	HDLBP	2	242176036	Silent	SNP	A	TCGA-HT-A4DV-01A-11D-A26M-08	33062924	242176036	1023337	6	29953											
HSPA4L	22824	broad.mit.edu	37	4	128753891	128753891	+	Missense_Mutation	SNP	A	A	C			TCGA-HT-A4DV-01A-11D-A26M-08	TCGA-HT-A4DV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e51b8c-12e4-4a72-9412-8ecef2bd07b6	58d0d6e7-274b-47d4-bf28-aabce38ffaca	g.chr4:128753891A>C	ENST00000296464.4	+	19	2793	c.2382A>C	c.(2380-2382)gaA>gaC	p.E794D	HSPA4L_ENST00000508776.1_Missense_Mutation_p.E794D|HSPA4L_ENST00000505726.1_Missense_Mutation_p.E768D|HSPA4L_ENST00000439123.2_Missense_Mutation_p.E825D	NM_014278.2	NP_055093.2	O95757	HS74L_HUMAN	heat shock 70kDa protein 4-like						protein folding|response to unfolded protein	cytoplasm|nucleus	ATP binding|protein binding			central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						CAAAAGCAGAAGTTCCTGAAG	0.368													7	30					0	0	1	0	0	C	128753891	A	C	128753891	3	2	311	1	0	0	0	0	1	0	0	0	7456	69	3	5	2456	5	HSPA4L	4	128753891	Missense_Mutation	SNP	A	TCGA-HT-A4DV-01A-11D-A26M-08		128753891	62400385	7	29954											
MYOZ3	91977	broad.mit.edu	37	5	150050053	150050053	+	Silent	SNP	G	G	A			TCGA-HT-A4DV-01A-11D-A26M-08	TCGA-HT-A4DV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e51b8c-12e4-4a72-9412-8ecef2bd07b6	58d0d6e7-274b-47d4-bf28-aabce38ffaca	g.chr5:150050053G>A	ENST00000297130.4	+	3	268	c.69G>A	c.(67-69)acG>acA	p.T23T	MYOZ3_ENST00000517768.1_Silent_p.T23T	NM_001122853.2|NM_133371.4	NP_001116325.1|NP_588612.2	Q8TDC0	MYOZ3_HUMAN	myozenin 3	23						sarcomere	protein binding			large_intestine(2)|lung(1)|skin(2)	5		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CAGTCCCTACGCTGGACCTGG	0.602													3	31					0	0	1	0	0	A	150050053	G	A	150050053	2	1	311	1	0	0	0	0	0	0	0	1	10145	1074	38	1		1	MYOZ3	5	150050053	Silent	SNP	G	TCGA-HT-A4DV-01A-11D-A26M-08		150050053	30865207	8	29955											
SYNE1	23345	broad.mit.edu	37	6	152730807	152730807	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-A4DV-01A-11D-A26M-08	TCGA-HT-A4DV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e51b8c-12e4-4a72-9412-8ecef2bd07b6	58d0d6e7-274b-47d4-bf28-aabce38ffaca	g.chr6:152730807C>G	ENST00000367255.5	-	43	6869	c.6268G>C	c.(6268-6270)Gaa>Caa	p.E2090Q	SYNE1_ENST00000448038.1_Missense_Mutation_p.E2097Q|SYNE1_ENST00000265368.4_Missense_Mutation_p.E2090Q|SYNE1_ENST00000341594.5_Missense_Mutation_p.E2127Q|SYNE1_ENST00000423061.1_Missense_Mutation_p.E2097Q	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	2090					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TTCTGATATTCTCTCATTAAG	0.368										HNSCC(10;0.0054)			5	24					0	0	1	0	0	G	152730807	C	G	152730807	3	3	311	1	0	0	0	0	1	0	0	0	15502	922	32	4	20614	4	SYNE1	6	152730807	Missense_Mutation	SNP	C	TCGA-HT-A4DV-01A-11D-A26M-08		152730807	18384260	9	29956											
C7orf34	135927	broad.mit.edu	37	7	142636704	142636704	+	Missense_Mutation	SNP	T	T	C	rs11977017	by1000genomes	TCGA-HT-A4DV-01A-11D-A26M-08	TCGA-HT-A4DV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e51b8c-12e4-4a72-9412-8ecef2bd07b6	58d0d6e7-274b-47d4-bf28-aabce38ffaca	g.chr7:142636704T>C	ENST00000409607.3	+	1	102	c.61T>C	c.(61-63)Tgg>Cgg	p.W21R		NM_178829.4	NP_849151.2	Q96L11	CG034_HUMAN	chromosome 7 open reading frame 34	0						extracellular region				large_intestine(1)|lung(4)	5	Melanoma(164;0.059)					CCAAAGGCAGTGGGTGGGCAG	0.642													3	38					0	0	1	0	0	C	142636704	T	C	142636704	3	2	311	1	0	0	0	0	1	0	0	0	2405	1696	59	3	63	3	C7orf34	7	142636704	Missense_Mutation	SNP	T	TCGA-HT-A4DV-01A-11D-A26M-08		142636704	16501959	10	29957											
SLC4A2	6522	broad.mit.edu	37	7	150761619	150761619	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A4DV-01A-11D-A26M-08	TCGA-HT-A4DV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e51b8c-12e4-4a72-9412-8ecef2bd07b6	58d0d6e7-274b-47d4-bf28-aabce38ffaca	g.chr7:150761619G>A	ENST00000485713.1	+	4	1264	c.224G>A	c.(223-225)cGc>cAc	p.R75H	SLC4A2_ENST00000461735.1_Missense_Mutation_p.R61H|SLC4A2_ENST00000413384.2_Missense_Mutation_p.R75H|SLC4A2_ENST00000392826.2_Missense_Mutation_p.R66H|SLC4A2_ENST00000310317.5_Intron	NM_001199692.1	NP_001186621.1	P04920	B3A2_HUMAN	solute carrier family 4 (anion exchanger), member 2	75	Pro-rich.				bicarbonate transport	integral to membrane|membrane fraction	inorganic anion exchanger activity			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(14)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GCAGACCACCGCCAGTCCTCC	0.682													4	74					0	0	1	0	0	A	150761619	G	A	150761619	3	1	311	1	0	0	0	0	1	0	0	0	14709	1087	38	1	234	1	SLC4A2	7	150761619	Missense_Mutation	SNP	G	TCGA-HT-A4DV-01A-11D-A26M-08	8124915	150761619	8377044	11	29958											
HTRA4	203100	broad.mit.edu	37	8	38839229	38839229	+	Missense_Mutation	SNP	A	A	C			TCGA-HT-A4DV-01A-11D-A26M-08	TCGA-HT-A4DV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e51b8c-12e4-4a72-9412-8ecef2bd07b6	58d0d6e7-274b-47d4-bf28-aabce38ffaca	g.chr8:38839229A>C	ENST00000302495.4	+	6	1157	c.1057A>C	c.(1057-1059)Att>Ctt	p.I353L		NM_153692.3	NP_710159.1	P83105	HTRA4_HUMAN	HtrA serine peptidase 4	353	Serine protease.				proteolysis|regulation of cell growth	extracellular region	insulin-like growth factor binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)	11		all_lung(54;0.0344)|Hepatocellular(245;0.0512)|Lung NSC(58;0.0955)	LUSC - Lung squamous cell carcinoma(45;1.5e-07)			CTCCTTTGCAATTCCTTCAGA	0.428													6	39					0	0	1	0	0	C	38839229	A	C	38839229	3	2	311	1	0	0	0	0	1	0	0	0	7500	101	4	4	1079	4	HTRA4	8	38839229	Missense_Mutation	SNP	A	TCGA-HT-A4DV-01A-11D-A26M-08		38839229	107524793	12	29959											
SARDH	1757	broad.mit.edu	37	9	136578200	136578200	+	Silent	SNP	C	C	T			TCGA-HT-A4DV-01A-11D-A26M-08	TCGA-HT-A4DV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e51b8c-12e4-4a72-9412-8ecef2bd07b6	58d0d6e7-274b-47d4-bf28-aabce38ffaca	g.chr9:136578200C>T	ENST00000371872.4	-	9	1454	c.1197G>A	c.(1195-1197)gaG>gaA	p.E399E	SARDH_ENST00000422262.2_Silent_p.E231E|SARDH_ENST00000439388.1_Silent_p.E399E	NM_007101.3	NP_009032.2	Q9UL12	SARDH_HUMAN	sarcosine dehydrogenase	399					glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|sarcosine dehydrogenase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		ACCCTCGGAGCTCAGGTGCCT	0.612													3	16					0	0	1	0	0	T	136578200	C	T	136578200	2	4	311	1	0	0	0	0	0	0	0	1	13894	796	28	2		2	SARDH	9	136578200	Silent	SNP	C	TCGA-HT-A4DV-01A-11D-A26M-08		136578200	4635231	13	29960											
RAD52	5893	broad.mit.edu	37	12	1023236	1023236	+	Missense_Mutation	SNP	T	T	G			TCGA-HT-A4DV-01A-11D-A26M-08	TCGA-HT-A4DV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e51b8c-12e4-4a72-9412-8ecef2bd07b6	58d0d6e7-274b-47d4-bf28-aabce38ffaca	g.chr12:1023236T>G	ENST00000358495.3	-	11	1157	c.1019A>C	c.(1018-1020)gAt>gCt	p.D340A	RAD52_ENST00000539046.1_Missense_Mutation_p.D263A|RAD52_ENST00000430095.2_Missense_Mutation_p.D340A|RAD52_ENST00000535376.1_5'UTR	NM_134424.2	NP_602296.2	P43351	RAD52_HUMAN	RAD52 homolog (S. cerevisiae)	340					DNA recombinase assembly|mitotic recombination|reciprocal meiotic recombination	nucleoplasm	DNA binding|protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	all_cancers(10;0.0119)|all_epithelial(11;0.0171)|all_lung(10;0.0521)|Ovarian(42;0.0816)|Lung NSC(10;0.0987)		OV - Ovarian serous cystadenocarcinoma(31;0.00123)|BRCA - Breast invasive adenocarcinoma(9;0.0323)			GACCACACCATCCCCTGCATC	0.507								Homologous recombination					3	40					0	0	1	0	0	G	1023236	T	G	1023236	3	3	311	1	0	0	0	0	1	0	0	0	13043	1435	50	4	245	4	RAD52	12	1023236	Missense_Mutation	SNP	T	TCGA-HT-A4DV-01A-11D-A26M-08		1023236	132828659	14	29961											
FICD	11153	broad.mit.edu	37	12	108912361	108912361	+	Missense_Mutation	SNP	G	G	C			TCGA-HT-A4DV-01A-11D-A26M-08	TCGA-HT-A4DV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e51b8c-12e4-4a72-9412-8ecef2bd07b6	58d0d6e7-274b-47d4-bf28-aabce38ffaca	g.chr12:108912361G>C	ENST00000552695.1	+	3	721	c.486G>C	c.(484-486)ttG>ttC	p.L162F	FICD_ENST00000361549.2_3'UTR	NM_007076.2	NP_009007.2	Q9BVA6	FICD_HUMAN	FIC domain containing	162					negative regulation of Rho GTPase activity	integral to membrane	binding|protein adenylyltransferase activity			NS(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(1)|prostate(1)|upper_aerodigestive_tract(2)	15						CGGACTACTTGTACACCAGAG	0.537													5	46					0	0	1	0	0	C	108912361	G	C	108912361	3	2	311	1	0	0	0	0	1	0	0	0	5920	1368	48	5	492	5	FICD	12	108912361	Missense_Mutation	SNP	G	TCGA-HT-A4DV-01A-11D-A26M-08	107889125	108912361	24939534	15	29962											
FHOD1	29109	broad.mit.edu	37	16	67264254	67264254	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A4DV-01A-11D-A26M-08	TCGA-HT-A4DV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e51b8c-12e4-4a72-9412-8ecef2bd07b6	58d0d6e7-274b-47d4-bf28-aabce38ffaca	g.chr16:67264254C>T	ENST00000258201.4	-	19	3261	c.3014G>A	c.(3013-3015)cGt>cAt	p.R1005H		NM_013241.2	NP_037373.2	Q9Y613	FHOD1_HUMAN	formin homology 2 domain containing 1	1005	FH2.				actin cytoskeleton organization	cytoplasm|cytoskeleton|nucleus	actin binding			breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	34		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)		GTTGCGCTCACGGTATGTGGC	0.592													10	41					0	0	1	0	0	T	67264254	C	T	67264254	3	4	311	1	0	0	0	0	1	0	0	0	5915	536	19	1	496	1	FHOD1	16	67264254	Missense_Mutation	SNP	C	TCGA-HT-A4DV-01A-11D-A26M-08		67264254	23090499	16	29963											
CIC	23152	broad.mit.edu	37	19	42791872	42791872	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A4DV-01A-11D-A26M-08	TCGA-HT-A4DV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e51b8c-12e4-4a72-9412-8ecef2bd07b6	58d0d6e7-274b-47d4-bf28-aabce38ffaca	g.chr19:42791872C>T	ENST00000572681.2	+	6	3553	c.3485C>T	c.(3484-3486)gCc>gTc	p.A1162V	CIC_ENST00000575354.2_Missense_Mutation_p.A253V|CIC_ENST00000160740.3_Missense_Mutation_p.A253V			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	253	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CACGACCTGGCCTTCCAGGTA	0.622			"Mis, F, S"		oligodendroglioma								6	32					0	0	1	0	0	T	42791872	C	T	42791872	3	4	311	1	0	0	0	0	1	0	0	0	3446	739	26	2	776	2	CIC	19	42791872	Missense_Mutation	SNP	C	TCGA-HT-A4DV-01A-11D-A26M-08		42791872	16337111	17	29964											
U2AF2	11338	broad.mit.edu	37	19	56180480	56180480	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-A4DV-01A-11D-A26M-08	TCGA-HT-A4DV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e51b8c-12e4-4a72-9412-8ecef2bd07b6	58d0d6e7-274b-47d4-bf28-aabce38ffaca	g.chr19:56180480G>T	ENST00000450554.2	+	10	1936	c.977G>T	c.(976-978)gGg>gTg	p.G326V	U2AF2_ENST00000590551.1_Missense_Mutation_p.G162V|CTD-2537I9.12_ENST00000585940.1_RNA|U2AF2_ENST00000308924.4_Missense_Mutation_p.G326V|CTD-2537I9.12_ENST00000589456.1_RNA	NM_001012478.1|NM_007279.2	NP_001012496.1|NP_009210.1	P26368	U2AF2_HUMAN	U2 small nuclear RNA auxiliary factor 2	326	RRM 2.				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	nucleoplasm|spliceosomal complex	enzyme binding|nucleotide binding|RNA binding			biliary_tract(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(2)	21		Colorectal(82;0.00244)|Ovarian(87;0.133)	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)		ATGCAGCTGGGGGATAAGAAG	0.657													4	32					1.23904e-05	1.27659e-05	1	1	0	T	56180480	G	T	56180480	3	4	311	1	0	0	0	0	1	0	0	0	16884	1232	43	5	1015	5	U2AF2	19	56180480	Missense_Mutation	SNP	G	TCGA-HT-A4DV-01A-11D-A26M-08	13388608	56180480	2948503	18	29965											
PHKA2	5256	broad.mit.edu	37	X	18924631	18924631	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A4DV-01A-11D-A26M-08	TCGA-HT-A4DV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e51b8c-12e4-4a72-9412-8ecef2bd07b6	58d0d6e7-274b-47d4-bf28-aabce38ffaca	g.chrX:18924631G>A	ENST00000379942.4	-	25	3453	c.2788C>T	c.(2788-2790)Cgg>Tgg	p.R930W		NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	930					glucose metabolic process|glycogen catabolic process	cytosol|phosphorylase kinase complex|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61	Hepatocellular(33;0.183)					TTCAGGCTCCGTGCCAGCTCC	0.632													23	56					0	0	1	0	0	A	18924631	G	A	18924631	3	1	311	1	0	0	0	0	1	0	0	0	11892	1144	40	1	955	1	PHKA2	23	18924631	Missense_Mutation	SNP	G	TCGA-HT-A4DV-01A-11D-A26M-08		18924631	136345929	19	29966											
SYTL5	94122	broad.mit.edu	37	X	37969646	37969646	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A4DV-01A-11D-A26M-08	TCGA-HT-A4DV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e51b8c-12e4-4a72-9412-8ecef2bd07b6	58d0d6e7-274b-47d4-bf28-aabce38ffaca	g.chrX:37969646C>T	ENST00000357972.5	+	13	2053	c.1507C>T	c.(1507-1509)Cgt>Tgt	p.R503C	TM4SF2_ENST00000465127.1_Intron|SYTL5_ENST00000297875.2_Missense_Mutation_p.R503C|SYTL5_ENST00000456733.2_Missense_Mutation_p.R525C			Q8TDW5	SYTL5_HUMAN	synaptotagmin-like 5	503	C2 1.				intracellular protein transport	membrane	metal ion binding|Rab GTPase binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	44						TCGATTTGGACGTAATAGCTT	0.438													4	73					0	0	1	0	0	T	37969646	C	T	37969646	3	4	311	1	0	0	0	0	1	0	0	0	15543	536	19	1	1623	1	SYTL5	23	37969646	Missense_Mutation	SNP	C	TCGA-HT-A4DV-01A-11D-A26M-08	19045015	37969646	117300914	20	29967											
PLXNB3	5365	broad.mit.edu	37	X	153043475	153043475	+	Silent	SNP	T	T	C			TCGA-HT-A4DV-01A-11D-A26M-08	TCGA-HT-A4DV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e51b8c-12e4-4a72-9412-8ecef2bd07b6	58d0d6e7-274b-47d4-bf28-aabce38ffaca	g.chrX:153043475T>C	ENST00000538966.1	+	33	5674	c.5403T>C	c.(5401-5403)aaT>aaC	p.N1801N	SRPK3_ENST00000489426.1_5'UTR|PLXNB3_ENST00000538776.1_Silent_p.N1431N|PLXNB3_ENST00000361971.5_Silent_p.N1778N|PLXNB3_ENST00000485980.1_3'UTR	NM_001163257.1	NP_001156729.1	Q9ULL4	PLXB3_HUMAN	plexin B3	1778					axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity			central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					TGTCGGACAATGTGGACGCCA	0.602													3	36					0	0	1	0	0	C	153043475	T	C	153043475	2	2	311	1	0	0	0	0	0	0	0	1	12173	1461	51	3		3	PLXNB3	23	153043475	Silent	SNP	T	TCGA-HT-A4DV-01A-11D-A26M-08	115073829	153043475	2227085	21	29968											
DMBX1	127343	broad.mit.edu	37	1	46976622	46976622	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A5R5-01A-11D-A289-08	TCGA-HT-A5R5-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0686504d-9d1a-470d-bb1a-14fef0939d3f	c54b6c79-a24e-418f-a5f3-5bda53aebf79	g.chr1:46976622C>T	ENST00000371956.4	+	3	379	c.364C>T	c.(364-366)Cgc>Tgc	p.R122C	DMBX1_ENST00000360032.3_Missense_Mutation_p.R117C	NM_147192.2	NP_671725.1	Q8NFW5	DMBX1_HUMAN	diencephalon/mesencephalon homeobox 1	122	Interacts with OXT2 and is required for repressor activity (By similarity).				brain development|developmental growth|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Acute lymphoblastic leukemia(166;0.155)					GTTCAAGAACCGCCGGGCCAA	0.617													3	20					0	0	1	0	0	T	46976622	C	T	46976622	3	4	312	1	0	0	0	0	1	0	0	0	4606	652	23	1	374	1	DMBX1	1	46976622	Missense_Mutation	SNP	C	TCGA-HT-A5R5-01A-11D-A289-08		46976622	202273999	1	29969											
PLEKHO1	51177	broad.mit.edu	37	1	150131105	150131105	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A5R5-01A-11D-A289-08	TCGA-HT-A5R5-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0686504d-9d1a-470d-bb1a-14fef0939d3f	c54b6c79-a24e-418f-a5f3-5bda53aebf79	g.chr1:150131105G>A	ENST00000369124.4	+	6	895	c.617G>A	c.(616-618)aGc>aAc	p.S206N	PLEKHO1_ENST00000025469.6_Missense_Mutation_p.S172N|PLEKHO1_ENST00000479194.1_3'UTR|PLEKHO1_ENST00000369126.1_Missense_Mutation_p.S23N	NM_016274.4	NP_057358.2	Q53GL0	PKHO1_HUMAN	pleckstrin homology domain containing, family O member 1	206	Interaction with ATM, CKIP, IFP35 and NMI.					cytoplasm|nucleus|plasma membrane				breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|skin(2)	22	Lung NSC(24;7.78e-28)|Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			TGTGCTGAGAGCTTTCGGGTT	0.617													7	93					0	0	1	0	0	A	150131105	G	A	150131105	3	1	312	1	0	0	0	0	1	0	0	0	12132	971	34	2	639	2	PLEKHO1	1	150131105	Missense_Mutation	SNP	G	TCGA-HT-A5R5-01A-11D-A289-08	103154483	150131105	99119516	2	29970											
SCTR	6344	broad.mit.edu	37	2	120197767	120197767	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A5R5-01A-11D-A289-08	TCGA-HT-A5R5-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0686504d-9d1a-470d-bb1a-14fef0939d3f	c54b6c79-a24e-418f-a5f3-5bda53aebf79	g.chr2:120197767C>T	ENST00000019103.5	-	13	1516	c.1249G>A	c.(1249-1251)Gcc>Acc	p.A417T		NM_002980.2	NP_002971.2	P47872	SCTR_HUMAN	secretin receptor	417					digestion|excretion	integral to plasma membrane	secretin receptor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)	19					Secretin(DB00021)	CTGAAGGAGGCCACGGGGTGC	0.637													12	26					0	0	1	0	0	T	120197767	C	T	120197767	3	4	312	1	0	0	0	0	1	0	0	0	13997	739	26	2	77	2	SCTR	2	120197767	Missense_Mutation	SNP	C	TCGA-HT-A5R5-01A-11D-A289-08		120197767	123001606	3	29971											
PLEKHM3	389072	broad.mit.edu	37	2	208866024	208866024	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A5R5-01A-11D-A289-08	TCGA-HT-A5R5-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0686504d-9d1a-470d-bb1a-14fef0939d3f	c54b6c79-a24e-418f-a5f3-5bda53aebf79	g.chr2:208866024C>T	ENST00000457206.1	-	2	767	c.340G>A	c.(340-342)Gca>Aca	p.A114T	PLEKHM3_ENST00000427836.2_Missense_Mutation_p.A114T|PLEKHM3_ENST00000389247.4_Missense_Mutation_p.A114T			Q6ZWE6	PKHM3_HUMAN	pleckstrin homology domain containing, family M, member 3	114					intracellular signal transduction		metal ion binding			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						AAGGTTGATGCTTCCTTTTGT	0.453													16	79					0	0	1	0	0	T	208866024	C	T	208866024	3	4	312	1	0	0	0	0	1	0	0	0	12130	797	28	2	1973	2	PLEKHM3	2	208866024	Missense_Mutation	SNP	C	TCGA-HT-A5R5-01A-11D-A289-08	88668257	208866024	34333349	4	29972											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-HT-A5R5-01A-11D-A289-08	TCGA-HT-A5R5-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0686504d-9d1a-470d-bb1a-14fef0939d3f	c54b6c79-a24e-418f-a5f3-5bda53aebf79	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	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								14	30					0	0	1	0	0	T	209113112	C	T	209113112	3	4	312	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HT-A5R5-01A-11D-A289-08	247088	209113112	34086261	5	29973											
LHFPL4	375323	broad.mit.edu	37	3	9594261	9594261	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-A5R5-01A-11D-A289-08	TCGA-HT-A5R5-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0686504d-9d1a-470d-bb1a-14fef0939d3f	c54b6c79-a24e-418f-a5f3-5bda53aebf79	g.chr3:9594261T>C	ENST00000287585.6	-	2	388	c.103A>G	c.(103-105)Atc>Gtc	p.I35V		NM_198560.2	NP_940962.1	Q7Z7J7	LHPL4_HUMAN	lipoma HMGIC fusion partner-like 4	35						integral to membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(3)|skin(1)	10	Medulloblastoma(99;0.227)					ACGTTGATGATGGCGAAGCAG	0.632													5	70					0	0	1	0	0	C	9594261	T	C	9594261	3	2	312	1	0	0	0	0	1	0	0	0	8807	1464	51	3	652	3	LHFPL4	3	9594261	Missense_Mutation	SNP	T	TCGA-HT-A5R5-01A-11D-A289-08		9594261	188428169	6	29974											
MST1	4485	broad.mit.edu	37	3	49723304	49723304	+	Silent	SNP	C	C	T			TCGA-HT-A5R5-01A-11D-A289-08	TCGA-HT-A5R5-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0686504d-9d1a-470d-bb1a-14fef0939d3f	c54b6c79-a24e-418f-a5f3-5bda53aebf79	g.chr3:49723304C>T	ENST00000449682.2	-	10	1600	c.1239G>A	c.(1237-1239)ccG>ccA	p.P413P	MST1_ENST00000383728.3_3'UTR	NM_020998.3	NP_066278.3	P26927	HGFL_HUMAN	macrophage stimulating 1 (hepatocyte growth factor-like)	399	Kringle 4.				proteolysis	extracellular region	serine-type endopeptidase activity			NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2)	41				BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		GCGGCTTGTGCGGCGTCTCAG	0.682													5	121					0	0	1	0	0	T	49723304	C	T	49723304	2	4	312	1	0	0	0	0	0	0	0	1	9938	755	27	1		1	MST1	3	49723304	Silent	SNP	C	TCGA-HT-A5R5-01A-11D-A289-08	40129043	49723304	148299126	7	29975											
KIAA1524	57650	broad.mit.edu	37	3	108308132	108308132	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A5R5-01A-11D-A289-08	TCGA-HT-A5R5-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0686504d-9d1a-470d-bb1a-14fef0939d3f	c54b6c79-a24e-418f-a5f3-5bda53aebf79	g.chr3:108308132G>A	ENST00000295746.8	-	1	167	c.91C>T	c.(91-93)Cgg>Tgg	p.R31W	KIAA1524_ENST00000487834.1_5'UTR	NM_020890.2	NP_065941.2	Q8TCG1	CIP2A_HUMAN	KIAA1524	31						cytoplasm|integral to membrane	protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(21)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TCCAAGTGCCGCAAAAGCTGA	0.587													3	30					0	0	1	0	0	A	108308132	G	A	108308132	3	1	312	1	0	0	0	0	1	0	0	0	8281	1086	38	1	2710	1	KIAA1524	3	108308132	Missense_Mutation	SNP	G	TCGA-HT-A5R5-01A-11D-A289-08	58584828	108308132	89714298	8	29976											
ADPRH	141	broad.mit.edu	37	3	119305222	119305222	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A5R5-01A-11D-A289-08	TCGA-HT-A5R5-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0686504d-9d1a-470d-bb1a-14fef0939d3f	c54b6c79-a24e-418f-a5f3-5bda53aebf79	g.chr3:119305222G>A	ENST00000478399.1	+	3	1794	c.389G>A	c.(388-390)gGg>gAg	p.G130E	ADPRH_ENST00000357003.3_Missense_Mutation_p.G130E|ADPRH_ENST00000471850.1_3'UTR|ADPRH_ENST00000465513.1_Missense_Mutation_p.G130E|ADPRH_ENST00000478927.1_Missense_Mutation_p.G130E			P54922	ADPRH_HUMAN	ADP-ribosylarginine hydrolase	130					protein de-ADP-ribosylation		ADP-ribosylarginine hydrolase activity|magnesium ion binding			breast(1)|kidney(1)|lung(10)|ovary(1)	13		Lung NSC(201;0.0977)		GBM - Glioblastoma multiforme(114;0.23)		GGCGGCTGTGGGGCTGCCATG	0.612													9	150					0	0	1	0	0	A	119305222	G	A	119305222	3	1	312	1	0	0	0	0	1	0	0	0	330	1232	43	2	395	2	ADPRH	3	119305222	Missense_Mutation	SNP	G	TCGA-HT-A5R5-01A-11D-A289-08	10997090	119305222	78717208	9	29977											
TFRC	7037	broad.mit.edu	37	3	195803944	195803944	+	Missense_Mutation	SNP	G	G	C			TCGA-HT-A5R5-01A-11D-A289-08	TCGA-HT-A5R5-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0686504d-9d1a-470d-bb1a-14fef0939d3f	c54b6c79-a24e-418f-a5f3-5bda53aebf79	g.chr3:195803944G>C	ENST00000360110.4	-	2	196	c.27C>G	c.(25-27)ttC>ttG	p.F9L	TFRC_ENST00000420415.1_5'UTR|TFRC_ENST00000540528.1_Missense_Mutation_p.F8L|TFRC_ENST00000535031.1_5'UTR|TFRC_ENST00000392396.3_Missense_Mutation_p.F9L	NM_001128148.1	NP_001121620.1	P02786	TFR1_HUMAN	transferrin receptor	9	Mediates interaction with SH3BP4.				cellular iron ion homeostasis|endocytosis|interspecies interaction between organisms|proteolysis|transferrin transport|transmembrane transport	coated pit|endosome|integral to plasma membrane|melanosome	peptidase activity|transferrin receptor activity			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_cancers(143;1.94e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.36e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.17e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00233)		CCAAGTTAGAGAATGCTGATC	0.343			T	BCL6	NHL								14	34					0	0	1	0	0	C	195803944	G	C	195803944	3	2	312	1	0	0	0	0	1	0	0	0	15872	933	33	4	2327	4	TFRC	3	195803944	Missense_Mutation	SNP	G	TCGA-HT-A5R5-01A-11D-A289-08	76498722	195803944	2218486	10	29978											
DDX60L	91351	broad.mit.edu	37	4	169379129	169379129	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HT-A5R5-01A-11D-A289-08	TCGA-HT-A5R5-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0686504d-9d1a-470d-bb1a-14fef0939d3f	c54b6c79-a24e-418f-a5f3-5bda53aebf79	g.chr4:169379129delT	ENST00000511577.1	-	6	884	c.637delA	c.(637-639)agcfs	p.S213fs	DDX60L_ENST00000505890.1_Frame_Shift_Del_p.S213fs|DDX60L_ENST00000260184.7_Frame_Shift_Del_p.S213fs			Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	213							ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		TGTATGAGGCTTTTATATGCA	0.294													2	4	---	---	---	---						-	169379129	T	-	169379129	7	5	312	1	0	1	0	1	0	0	0	0	4402	1609	56	0	4615	0	DDX60L	4	169379129	Frame_Shift_Del	DEL	T	TCGA-HT-A5R5-01A-11D-A289-08		169379129	21775147	11	29979											
TERT	7015	broad.mit.edu	37	5	1264587	1264587	+	Silent	SNP	G	G	A	rs34528119		TCGA-HT-A5R5-01A-11D-A289-08	TCGA-HT-A5R5-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0686504d-9d1a-470d-bb1a-14fef0939d3f	c54b6c79-a24e-418f-a5f3-5bda53aebf79	g.chr5:1264587G>A	ENST00000310581.5	-	11	2832	c.2775C>T	c.(2773-2775)caC>caT	p.H925H	TERT_ENST00000334602.6_Intron|TERT_ENST00000296820.5_3'UTR	NM_001193376.1|NM_198253.2	NP_001180305.1|NP_937983.2	O14746	TERT_HUMAN	telomerase reverse transcriptase	925	Required for oligomerization.|Reverse transcriptase.				anti-apoptosis|DNA strand elongation|replicative senescence|telomere formation via telomerase|telomere maintenance via telomerase	cytoplasm|nucleolus|PML body|telomerase holoenzyme complex	protein homodimerization activity|telomeric DNA binding|telomeric RNA binding|telomeric template RNA reverse transcriptase activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	41	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			GGAATAGGCCGTGGGCCGGCA	0.627									TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis				20	44					0	0	1	0	0	A	1264587	G	A	1264587	2	1	312	1	0	0	0	0	0	0	0	1	15823	1136	40	1		1	TERT	5	1264587	Silent	SNP	G	TCGA-HT-A5R5-01A-11D-A289-08		1264587	179650673	12	29980											
CDH9	1007	broad.mit.edu	37	5	26906079	26906079	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A5R5-01A-11D-A289-08	TCGA-HT-A5R5-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0686504d-9d1a-470d-bb1a-14fef0939d3f	c54b6c79-a24e-418f-a5f3-5bda53aebf79	g.chr5:26906079C>T	ENST00000231021.4	-	5	972	c.800G>A	c.(799-801)cGa>cAa	p.R267Q		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	267	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.R267Q(1)		breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						CTGGGGAAATCGAGGAGGGTT	0.428													4	130					0	0	1	0	0	T	26906079	C	T	26906079	3	4	312	1	0	0	0	0	1	0	0	0	3139	884	31	1	1601	1	CDH9	5	26906079	Missense_Mutation	SNP	C	TCGA-HT-A5R5-01A-11D-A289-08	25641492	26906079	154009181	13	29981											
SKIV2L2	23517	broad.mit.edu	37	5	54720585	54720585	+	Silent	SNP	C	C	T			TCGA-HT-A5R5-01A-11D-A289-08	TCGA-HT-A5R5-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0686504d-9d1a-470d-bb1a-14fef0939d3f	c54b6c79-a24e-418f-a5f3-5bda53aebf79	g.chr5:54720585C>T	ENST00000230640.5	+	27	3368	c.3114C>T	c.(3112-3114)gcC>gcT	p.A1038A	SKIV2L2_ENST00000545714.1_Silent_p.A937A	NM_015360.4	NP_056175.3	P42285	SK2L2_HUMAN	superkiller viralicidic activity 2-like 2 (S. cerevisiae)	1038					maturation of 5.8S rRNA	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			NS(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194)				TGTTTGCTGCCAGCCTCTACT	0.378													4	38					0	0	1	0	0	T	54720585	C	T	54720585	2	4	312	1	0	0	0	0	0	0	0	1	14415	581	21	2		2	SKIV2L2	5	54720585	Silent	SNP	C	TCGA-HT-A5R5-01A-11D-A289-08	27814506	54720585	126194675	14	29982											
HARS	3035	broad.mit.edu	37	5	140070858	140070858	+	Missense_Mutation	SNP	A	A	T			TCGA-HT-A5R5-01A-11D-A289-08	TCGA-HT-A5R5-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0686504d-9d1a-470d-bb1a-14fef0939d3f	c54b6c79-a24e-418f-a5f3-5bda53aebf79	g.chr5:140070858A>T	ENST00000504156.1	-	1	751	c.32T>A	c.(31-33)gTg>gAg	p.V11E	HARS_ENST00000457527.2_Missense_Mutation_p.V11E|HARS_ENST00000307633.3_Missense_Mutation_p.V11E|HARS_ENST00000431330.2_Missense_Mutation_p.V11E|HARS_ENST00000438307.2_Missense_Mutation_p.V11E|HARS_ENST00000448240.1_5'UTR|HARS_ENST00000415192.2_Missense_Mutation_p.V11E	NM_002109.4	NP_002100.2	P12081	SYHC_HUMAN	histidyl-tRNA synthetase	11	WHEP-TRS.				histidyl-tRNA aminoacylation	cytosol	ATP binding|histidine-tRNA ligase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	19			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		L-Histidine(DB00117)	CTGAAGTTTCACCAGCTCCTC	0.652													11	29					0	0	1	0	0	T	140070858	A	T	140070858	3	4	312	1	0	0	0	0	1	0	0	0	7000	159	6	5	1549	5	HARS	5	140070858	Missense_Mutation	SNP	A	TCGA-HT-A5R5-01A-11D-A289-08	85350273	140070858	40844402	15	29983											
MUC21	394263	broad.mit.edu	37	6	30954806	30954806	+	Missense_Mutation	SNP	T	T	C	rs9262370		TCGA-HT-A5R5-01A-11D-A289-08	TCGA-HT-A5R5-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0686504d-9d1a-470d-bb1a-14fef0939d3f	c54b6c79-a24e-418f-a5f3-5bda53aebf79	g.chr6:30954806T>C	ENST00000376296.3	+	2	1095	c.854T>C	c.(853-855)gTc>gCc	p.V285A	MUC21_ENST00000486149.2_5'UTR	NM_001010909.2	NP_001010909.2	Q5SSG8	MUC21_HUMAN	mucin 21, cell surface associated	285	28 X 15 AA approximate tandem repeats.|Ser-rich.		V -> A (in dbSNP:rs9262370).			integral to membrane|plasma membrane				NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						ATCAGCACAGTCACCAATTCT	0.612													10	332					0	0	1	0	0	C	30954806	T	C	30954806	3	2	312	1	0	0	0	0	1	0	0	0	10025	1667	58	3	860	3	MUC21	6	30954806	Missense_Mutation	SNP	T	TCGA-HT-A5R5-01A-11D-A289-08		30954806	140160261	16	29984											
STK19	8859	broad.mit.edu	37	6	31939829	31939830	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HT-A5R5-01A-11D-A289-08	TCGA-HT-A5R5-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0686504d-9d1a-470d-bb1a-14fef0939d3f	c54b6c79-a24e-418f-a5f3-5bda53aebf79	g.chr6:31939829_31939830insA	ENST00000375331.2	+	1	222_223	c.56_57insA	c.(55-60)gcaaacfs	p.N20fs	DXO_ENST00000375349.3_5'UTR|DXO_ENST00000337523.5_5'UTR|STK19_ENST00000375333.2_Frame_Shift_Ins_p.N20fs|DXO_ENST00000478221.1_5'UTR	NM_004197.1	NP_004188.1	P49842	STK19_HUMAN	serine/threonine kinase 19	20						nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			skin(5)|upper_aerodigestive_tract(2)	7						CAGTGGCGGGCAAACCCCTCCC	0.634													8	155	---	---	---	---						A	31939830	-	A	31939829	7	5	312	1	0	1	1	0	0	0	0	0	15348	710	25	0	58	0	STK19	6	31939829	Frame_Shift_Ins	INS	-	TCGA-HT-A5R5-01A-11D-A289-08	985023	31939829	139175238	17	29985											
ITPR3	3710	broad.mit.edu	37	6	33660584	33660584	+	Missense_Mutation	SNP	T	T	G			TCGA-HT-A5R5-01A-11D-A289-08	TCGA-HT-A5R5-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0686504d-9d1a-470d-bb1a-14fef0939d3f	c54b6c79-a24e-418f-a5f3-5bda53aebf79	g.chr6:33660584T>G	ENST00000374316.5	+	56	8598	c.7538T>G	c.(7537-7539)tTt>tGt	p.F2513C	ITPR3_ENST00000605930.1_Missense_Mutation_p.F2513C			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	2513					activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						AACCTCATCTTTGGGGTAATC	0.517													4	92					0	0	1	0	0	G	33660584	T	G	33660584	3	3	312	1	0	0	0	0	1	0	0	0	7966	1841	64	5	7756	5	ITPR3	6	33660584	Missense_Mutation	SNP	T	TCGA-HT-A5R5-01A-11D-A289-08	1720755	33660584	137454483	18	29986											
PRSS35	167681	broad.mit.edu	37	6	84233254	84233254	+	Nonsense_Mutation	SNP	A	A	T			TCGA-HT-A5R5-01A-11D-A289-08	TCGA-HT-A5R5-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0686504d-9d1a-470d-bb1a-14fef0939d3f	c54b6c79-a24e-418f-a5f3-5bda53aebf79	g.chr6:84233254A>T	ENST00000536636.1	+	3	439	c.94A>T	c.(94-96)Aga>Tga	p.R32*	PRSS35_ENST00000369700.3_Nonsense_Mutation_p.R32*	NM_001170423.1	NP_001163894.1	Q8N3Z0	PRS35_HUMAN	protease, serine, 35	32					proteolysis	extracellular region	serine-type endopeptidase activity			breast(2)|endometrium(2)|large_intestine(12)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	32		all_cancers(76;0.000113)|Acute lymphoblastic leukemia(125;1.09e-08)|all_hematologic(105;3.12e-05)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0768)		GTGGCACTTGAGAAAGGTACC	0.448													9	105					0	0	1	0	0	T	84233254	A	T	84233254	4	4	312	1	0	0	0	0	0	1	0	0	12673	296	11	5	96	5	PRSS35	6	84233254	Nonsense_Mutation	SNP	A	TCGA-HT-A5R5-01A-11D-A289-08	50572670	84233254	86881813	19	29987											
FBXO30	84085	broad.mit.edu	37	6	146126348	146126348	+	Silent	SNP	A	A	G			TCGA-HT-A5R5-01A-11D-A289-08	TCGA-HT-A5R5-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0686504d-9d1a-470d-bb1a-14fef0939d3f	c54b6c79-a24e-418f-a5f3-5bda53aebf79	g.chr6:146126348A>G	ENST00000237281.4	-	2	1360	c.1194T>C	c.(1192-1194)tcT>tcC	p.S398S		NM_032145.4	NP_115521.3	Q8TB52	FBX30_HUMAN	F-box protein 30	398	F-box.						ubiquitin-protein ligase activity|zinc ion binding			NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26		Ovarian(120;0.0776)		OV - Ovarian serous cystadenocarcinoma(155;1.95e-07)|GBM - Glioblastoma multiforme(68;0.0149)		CCTTTGGTTTAGACCAACATG	0.388													48	91					0	0	1	0	0	G	146126348	A	G	146126348	2	3	312	1	0	0	0	0	0	0	0	1	5773	407	15	3		3	FBXO30	6	146126348	Silent	SNP	A	TCGA-HT-A5R5-01A-11D-A289-08	61893094	146126348	24988719	20	29988											
FOXK1	221937	broad.mit.edu	37	7	4798771	4798771	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HT-A5R5-01A-11D-A289-08	TCGA-HT-A5R5-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0686504d-9d1a-470d-bb1a-14fef0939d3f	c54b6c79-a24e-418f-a5f3-5bda53aebf79	g.chr7:4798771delC	ENST00000328914.4	+	6	1334	c.1334delC	c.(1333-1335)tccfs	p.S445fs	FOXK1_ENST00000446823.1_Frame_Shift_Del_p.S282fs	NM_001037165.1	NP_001032242.1	P85037	FOXK1_HUMAN	forkhead box K1	445				Missing (in Ref. 1; AK122663).	cell differentiation|embryo development|muscle organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|magnesium ion binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;7.43e-15)		CGGGAGGGCTCCCCCATTCCA	0.652													7	245	---	---	---	---						-	4798771	C	-	4798771	7	5	312	1	0	1	0	1	0	0	0	0	6048	855	30	0	1356	0	FOXK1	7	4798771	Frame_Shift_Del	DEL	C	TCGA-HT-A5R5-01A-11D-A289-08		4798771	154339892	21	29989											
ZNF394	84124	broad.mit.edu	37	7	99091497	99091497	+	Silent	SNP	G	G	A			TCGA-HT-A5R5-01A-11D-A289-08	TCGA-HT-A5R5-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0686504d-9d1a-470d-bb1a-14fef0939d3f	c54b6c79-a24e-418f-a5f3-5bda53aebf79	g.chr7:99091497G>A	ENST00000337673.6	-	3	1544	c.1341C>T	c.(1339-1341)tgC>tgT	p.C447C	ZNF789_ENST00000494186.1_Intron|ZNF394_ENST00000426306.2_3'UTR|ZNF789_ENST00000493485.1_Intron	NM_032164.2	NP_115540.2	Q53GI3	ZN394_HUMAN	zinc finger protein 394	447					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(5)|stomach(1)|urinary_tract(1)	16	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					AGGTTTCCCCGCATTCCTCAC	0.428													4	133					0	0	1	0	0	A	99091497	G	A	99091497	2	1	312	1	0	0	0	0	0	0	0	1	17937	1079	38	1		1	ZNF394	7	99091497	Silent	SNP	G	TCGA-HT-A5R5-01A-11D-A289-08	94292726	99091497	60047166	22	29990											
PLXNA4	91584	broad.mit.edu	37	7	131829883	131829889	+	Frame_Shift_Del	DEL	GCTCTTC	GCTCTTC	-			TCGA-HT-A5R5-01A-11D-A289-08	TCGA-HT-A5R5-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0686504d-9d1a-470d-bb1a-14fef0939d3f	c54b6c79-a24e-418f-a5f3-5bda53aebf79	g.chr7:131829883_131829889delGCTCTTC	ENST00000359827.3	-	29	6176_6182	c.5214_5220delGAAGAGC	c.(5212-5220)tggaagagcfs	p.WKS1738fs	PLXNA4_ENST00000321063.4_Frame_Shift_Del_p.WKS1738fs			Q9HCM2	PLXA4_HUMAN	plexin A4	1738						integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						CTCACCAATTGCTCTTCCAGGTATGGC	0.594													10	58	---	---	---	---						-	131829889	GCTCTTC	-	131829883	7	5	312	1	0	1	0	1	0	0	0	0	12170	1310	46	0	480	0	PLXNA4	7	131829883	Frame_Shift_Del	DEL	GCTCTTC	TCGA-HT-A5R5-01A-11D-A289-08	32738386	131829883	27308780	23	29991											
PTK2B	2185	broad.mit.edu	37	8	27279873	27279873	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A5R5-01A-11D-A289-08	TCGA-HT-A5R5-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0686504d-9d1a-470d-bb1a-14fef0939d3f	c54b6c79-a24e-418f-a5f3-5bda53aebf79	g.chr8:27279873C>T	ENST00000397501.1	+	10	1332	c.524C>T	c.(523-525)gCc>gTc	p.A175V	PTK2B_ENST00000544172.1_Missense_Mutation_p.A175V|PTK2B_ENST00000346049.5_Missense_Mutation_p.A175V|PTK2B_ENST00000420218.2_Missense_Mutation_p.A175V|PTK2B_ENST00000338238.4_Missense_Mutation_p.A175V|PTK2B_ENST00000517339.1_Missense_Mutation_p.A175V	NM_173174.2	NP_775266.1	Q14289	FAK2_HUMAN	protein tyrosine kinase 2 beta	175	FERM.				apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Ovarian(32;2.72e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)		GAGGGCATGGCCCTGCAGCTG	0.652													3	39					0	0	1	0	0	T	27279873	C	T	27279873	3	4	312	1	0	0	0	0	1	0	0	0	12813	739	26	2	538	2	PTK2B	8	27279873	Missense_Mutation	SNP	C	TCGA-HT-A5R5-01A-11D-A289-08		27279873	119084149	24	29992											
TRHR	7201	broad.mit.edu	37	8	110100140	110100140	+	Silent	SNP	C	C	G			TCGA-HT-A5R5-01A-11D-A289-08	TCGA-HT-A5R5-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0686504d-9d1a-470d-bb1a-14fef0939d3f	c54b6c79-a24e-418f-a5f3-5bda53aebf79	g.chr8:110100140C>G	ENST00000518632.1	+	2	750	c.399C>G	c.(397-399)gcC>gcG	p.A133A	TRHR_ENST00000311762.2_Silent_p.A133A			P34981	TRFR_HUMAN	thyrotropin-releasing hormone receptor	133						integral to plasma membrane	thyrotropin-releasing hormone receptor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(12)|prostate(4)|skin(4)|urinary_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(57;2.3e-11)			CCATCAAAGCCCAGTTTCTCT	0.413													20	33					0	0	1	0	0	G	110100140	C	G	110100140	2	3	312	1	0	0	0	0	0	0	0	1	16541	610	22	5		5	TRHR	8	110100140	Silent	SNP	C	TCGA-HT-A5R5-01A-11D-A289-08	82820267	110100140	36263882	25	29993											
RORB	6096	broad.mit.edu	37	9	77277523	77277523	+	Splice_Site	SNP	G	G	T			TCGA-HT-A5R5-01A-11D-A289-08	TCGA-HT-A5R5-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0686504d-9d1a-470d-bb1a-14fef0939d3f	c54b6c79-a24e-418f-a5f3-5bda53aebf79	g.chr9:77277523G>T	ENST00000376896.3	+	6	1504		c.e6+1		RORB_ENST00000396204.2_Splice_Site	NM_006914.3	NP_008845.2	Q92753	RORB_HUMAN	RAR-related orphan receptor B						eye photoreceptor cell development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|visual perception	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(2)|large_intestine(4)|lung(1)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	12						CTGAAGTCAGGTAAGCAAGAA	0.458													12	74					7.93312e-07	8.34345e-07	1	1	0	T	77277523	G	T	77277523	5	4	312	1	0	0	0	0	0	0	1	0	13581	1275	44	5	915	5	RORB	9	77277523	Splice_Site	SNP	G	TCGA-HT-A5R5-01A-11D-A289-08		77277523	63935908	26	29994											
BTAF1	9044	broad.mit.edu	37	10	93749186	93749186	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-A5R5-01A-11D-A289-08	TCGA-HT-A5R5-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0686504d-9d1a-470d-bb1a-14fef0939d3f	c54b6c79-a24e-418f-a5f3-5bda53aebf79	g.chr10:93749186A>G	ENST00000265990.6	+	20	3011	c.2703A>G	c.(2701-2703)atA>atG	p.I901M		NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa	901					negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				CTCAGTGCATAGCTAAACTCC	0.388													30	46					0	0	1	0	0	G	93749186	A	G	93749186	3	3	312	1	0	0	0	0	1	0	0	0	1538	410	15	3	2781	3	BTAF1	10	93749186	Missense_Mutation	SNP	A	TCGA-HT-A5R5-01A-11D-A289-08		93749186	41785561	27	29995											
PPRC1	23082	broad.mit.edu	37	10	103900414	103900414	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A5R5-01A-11D-A289-08	TCGA-HT-A5R5-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0686504d-9d1a-470d-bb1a-14fef0939d3f	c54b6c79-a24e-418f-a5f3-5bda53aebf79	g.chr10:103900414G>A	ENST00000278070.2	+	5	2188	c.2149G>A	c.(2149-2151)Gac>Aac	p.D717N	PPRC1_ENST00000413464.2_Missense_Mutation_p.D717N	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	717					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		AGAGTCCTTGGACCCACCAAA	0.537													4	96					0	0	1	0	0	A	103900414	G	A	103900414	3	1	312	1	0	0	0	0	1	0	0	0	12459	1174	41	2	2167	2	PPRC1	10	103900414	Missense_Mutation	SNP	G	TCGA-HT-A5R5-01A-11D-A289-08	10151228	103900414	31634333	28	29996											
DCHS1	8642	broad.mit.edu	37	11	6654108	6654108	+	Missense_Mutation	SNP	G	G	A	rs139750490		TCGA-HT-A5R5-01A-11D-A289-08	TCGA-HT-A5R5-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0686504d-9d1a-470d-bb1a-14fef0939d3f	c54b6c79-a24e-418f-a5f3-5bda53aebf79	g.chr11:6654108G>A	ENST00000299441.3	-	6	3046	c.2635C>T	c.(2635-2637)Cgg>Tgg	p.R879W	RP11-732A19.6_ENST00000526633.1_RNA	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	879	Cadherin 8.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACACGCACCCGAGCTACAGCG	0.597													7	38					0	0	1	0	0	A	6654108	G	A	6654108	3	1	312	1	0	0	0	0	1	0	0	0	4310	1057	37	1	7325	1	DCHS1	11	6654108	Missense_Mutation	SNP	G	TCGA-HT-A5R5-01A-11D-A289-08		6654108	128352408	29	29997											
IGSF22	283284	broad.mit.edu	37	11	18739488	18739488	+	Silent	SNP	G	G	A			TCGA-HT-A5R5-01A-11D-A289-08	TCGA-HT-A5R5-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0686504d-9d1a-470d-bb1a-14fef0939d3f	c54b6c79-a24e-418f-a5f3-5bda53aebf79	g.chr11:18739488G>A	ENST00000513874.1	-	9	1102	c.963C>T	c.(961-963)ctC>ctT	p.L321L	RP11-1081L13.4_ENST00000527285.1_RNA	NM_173588.3	NP_775859	Q8N9C0	IGS22_HUMAN	immunoglobulin superfamily, member 22	321	Ig-like 2.									NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						CCAGCACTGTGAGCTCTGCAC	0.542													15	69					0	0	1	0	0	A	18739488	G	A	18739488	2	1	312	1	0	0	0	0	0	0	0	1	7644	1277	45	2		2	IGSF22	11	18739488	Silent	SNP	G	TCGA-HT-A5R5-01A-11D-A289-08	12085380	18739488	116267028	30	29998											
TECTA	7007	broad.mit.edu	37	11	120996422	120996422	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-A5R5-01A-11D-A289-08	TCGA-HT-A5R5-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0686504d-9d1a-470d-bb1a-14fef0939d3f	c54b6c79-a24e-418f-a5f3-5bda53aebf79	g.chr11:120996422A>G	ENST00000392793.1	+	8	1886	c.1615A>G	c.(1615-1617)Act>Gct	p.T539A	TECTA_ENST00000264037.2_Missense_Mutation_p.T539A			O75443	TECTA_HUMAN	tectorin alpha	539	VWFD 1.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		GGAGTGTGGCACTGTCGTGGA	0.592													7	176					0	0	1	0	0	G	120996422	A	G	120996422	3	3	312	1	0	0	0	0	1	0	0	0	15806	159	6	3	1641	3	TECTA	11	120996422	Missense_Mutation	SNP	A	TCGA-HT-A5R5-01A-11D-A289-08	102256934	120996422	14010094	31	29999											
HSPA8	3312	broad.mit.edu	37	11	122931899	122931899	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A5R5-01A-11D-A289-08	TCGA-HT-A5R5-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0686504d-9d1a-470d-bb1a-14fef0939d3f	c54b6c79-a24e-418f-a5f3-5bda53aebf79	g.chr11:122931899G>A	ENST00000534624.1	-	2	410	c.134C>T	c.(133-135)aCg>aTg	p.T45M	HSPA8_ENST00000532636.1_Missense_Mutation_p.T45M|HSPA8_ENST00000526110.1_Missense_Mutation_p.T45M|HSPA8_ENST00000227378.3_Missense_Mutation_p.T45M|HSPA8_ENST00000533540.1_Missense_Mutation_p.T45M|HSPA8_ENST00000453788.2_Missense_Mutation_p.T45M	NM_006597.4	NP_006588.1	P11142	HSP7C_HUMAN	heat shock 70kDa protein 8	45					cellular membrane organization|interspecies interaction between organisms|mRNA metabolic process|negative regulation of transcription, DNA-dependent|neurotransmitter secretion|post-Golgi vesicle-mediated transport|protein folding|response to unfolded protein|transcription, DNA-dependent	cell surface|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|melanosome|plasma membrane|ribonucleoprotein complex	ATP binding|ATPase activity, coupled|protein binding			breast(1)|central_nervous_system(7)|endometrium(1)|kidney(9)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	36		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		TTCAGTGTCCGTAAAGGCGAC	0.463													3	43					0	0	1	0	0	A	122931899	G	A	122931899	3	1	312	1	0	0	0	0	1	0	0	0	7459	1145	40	1	1838	1	HSPA8	11	122931899	Missense_Mutation	SNP	G	TCGA-HT-A5R5-01A-11D-A289-08	1935477	122931899	12074617	32	30000											
STRAP	11171	broad.mit.edu	37	12	16050900	16050900	+	Silent	SNP	C	C	T			TCGA-HT-A5R5-01A-11D-A289-08	TCGA-HT-A5R5-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0686504d-9d1a-470d-bb1a-14fef0939d3f	c54b6c79-a24e-418f-a5f3-5bda53aebf79	g.chr12:16050900C>T	ENST00000419869.2	+	7	1036	c.723C>T	c.(721-723)ggC>ggT	p.G241G	STRAP_ENST00000538352.1_Silent_p.G147G|STRAP_ENST00000025399.6_Silent_p.G254G	NM_007178.3	NP_009109.3	Q9Y3F4	STRAP_HUMAN	serine/threonine kinase receptor associated protein	241					mRNA processing|RNA splicing	cell junction|mitochondrion|spliceosomal complex	identical protein binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(6)|skin(1)	15		Hepatocellular(102;0.121)				TTGTTGCAGGCGGTGAAGATT	0.343													19	34					0	0	1	0	0	T	16050900	C	T	16050900	2	4	312	1	0	0	0	0	0	0	0	1	15382	755	27	1		1	STRAP	12	16050900	Silent	SNP	C	TCGA-HT-A5R5-01A-11D-A289-08		16050900	117800995	33	30001											
NUAK1	9891	broad.mit.edu	37	12	106477695	106477695	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-A5R5-01A-11D-A289-08	TCGA-HT-A5R5-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0686504d-9d1a-470d-bb1a-14fef0939d3f	c54b6c79-a24e-418f-a5f3-5bda53aebf79	g.chr12:106477695G>T	ENST00000261402.2	-	4	1905	c.526C>A	c.(526-528)Cac>Aac	p.H176N		NM_014840.2	NP_055655.1	O60285	NUAK1_HUMAN	NUAK family, SNF1-like kinase, 1	176	Protein kinase.						ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37						AAGTCCCGGTGGACCACACCG	0.498													4	63					0.000602214	0.000612251	1	1	0	T	106477695	G	T	106477695	3	4	312	1	0	0	0	0	1	0	0	0	10760	1348	47	5	1475	5	NUAK1	12	106477695	Missense_Mutation	SNP	G	TCGA-HT-A5R5-01A-11D-A289-08	90426795	106477695	27374200	34	30002											
PRR14	78994	broad.mit.edu	37	16	30666113	30666113	+	Silent	SNP	A	A	C			TCGA-HT-A5R5-01A-11D-A289-08	TCGA-HT-A5R5-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0686504d-9d1a-470d-bb1a-14fef0939d3f	c54b6c79-a24e-418f-a5f3-5bda53aebf79	g.chr16:30666113A>C	ENST00000542965.2	+	7	1278	c.822A>C	c.(820-822)ccA>ccC	p.P274P	PRR14_ENST00000300835.4_Silent_p.P274P			Q9BWN1	PRR14_HUMAN	proline rich 14	274	Pro-rich.									breast(3)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	18			Colorectal(24;0.103)			CACAGCCCCCACCCCCGTCCC	0.652													4	21					0	0	1	0	0	C	30666113	A	C	30666113	2	2	312	1	0	0	0	0	0	0	0	1	12638	146	6	5		5	PRR14	16	30666113	Silent	SNP	A	TCGA-HT-A5R5-01A-11D-A289-08		30666113	59688640	35	30003											
CTCF	10664	broad.mit.edu	37	16	67663410	67663410	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-A5R5-01A-11D-A289-08	TCGA-HT-A5R5-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0686504d-9d1a-470d-bb1a-14fef0939d3f	c54b6c79-a24e-418f-a5f3-5bda53aebf79	g.chr16:67663410C>G	ENST00000264010.4	+	10	2255	c.1811C>G	c.(1810-1812)tCt>tGt	p.S604C	CTCF_ENST00000401394.1_Missense_Mutation_p.S276C	NM_006565.3	NP_006556.1	P49711	CTCF_HUMAN	CCCTC-binding factor (zinc finger protein)	604					chromatin modification|chromosome segregation|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|regulation of centromeric sister chromatid cohesion|regulation of molecular function, epigenetic	chromosome, centromeric region|condensed chromosome|nucleolus|nucleoplasm	chromatin insulator sequence binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding			breast(6)|central_nervous_system(2)|cervix(1)|endometrium(34)|haematopoietic_and_lymphoid_tissue(7)|kidney(3)|large_intestine(9)|liver(1)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	79		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)		AAGATGCGCTCTAAGAAAGAA	0.448													6	55					0	0	1	0	0	G	67663410	C	G	67663410	3	3	312	1	0	0	0	0	1	0	0	0	4024	913	32	4	1841	4	CTCF	16	67663410	Missense_Mutation	SNP	C	TCGA-HT-A5R5-01A-11D-A289-08	36997297	67663410	22691343	36	30004											
TSNAXIP1	55815	broad.mit.edu	37	16	67860104	67860104	+	Missense_Mutation	SNP	G	G	C			TCGA-HT-A5R5-01A-11D-A289-08	TCGA-HT-A5R5-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0686504d-9d1a-470d-bb1a-14fef0939d3f	c54b6c79-a24e-418f-a5f3-5bda53aebf79	g.chr16:67860104G>C	ENST00000388833.3	+	10	1409	c.1032G>C	c.(1030-1032)aaG>aaC	p.K344N	TSNAXIP1_ENST00000561639.1_Missense_Mutation_p.K398N|TSNAXIP1_ENST00000415766.3_Missense_Mutation_p.K329N	NM_018430.2	NP_060900.2	Q2TAA8	TXIP1_HUMAN	translin-associated factor X interacting protein 1	344					cell differentiation|multicellular organismal development|spermatogenesis	perinuclear region of cytoplasm				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|prostate(1)|soft_tissue(1)|urinary_tract(1)	22		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00432)|Epithelial(162;0.0192)|all cancers(182;0.125)		CTGAGGGCAAGAACAGCGACC	0.637													3	56					0	0	1	0	0	C	67860104	G	C	67860104	3	2	312	1	0	0	0	0	1	0	0	0	16693	933	33	4	1062	4	TSNAXIP1	16	67860104	Missense_Mutation	SNP	G	TCGA-HT-A5R5-01A-11D-A289-08	196694	67860104	22494649	37	30005											
TP53	7157	broad.mit.edu	37	17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	rs121913343		TCGA-HT-A5R5-01A-11D-A289-08	TCGA-HT-A5R5-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0686504d-9d1a-470d-bb1a-14fef0939d3f	c54b6c79-a24e-418f-a5f3-5bda53aebf79	g.chr17:7577121G>A	ENST00000420246.2	-	8	949	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000269305.4_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.R273C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	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).		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.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			24	7					0	0	1	0	0	A	7577121	G	A	7577121	3	1	312	1	0	0	0	0	1	0	0	0	16442	1087	38	1	469	1	TP53	17	7577121	Missense_Mutation	SNP	G	TCGA-HT-A5R5-01A-11D-A289-08		7577121	73618089	38	30006											
KRI1	65095	broad.mit.edu	37	19	10670353	10670353	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A5R5-01A-11D-A289-08	TCGA-HT-A5R5-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0686504d-9d1a-470d-bb1a-14fef0939d3f	c54b6c79-a24e-418f-a5f3-5bda53aebf79	g.chr19:10670353G>A	ENST00000312962.6	-	11	996	c.977C>T	c.(976-978)tCc>tTc	p.S326F	KRI1_ENST00000361821.5_Missense_Mutation_p.S322F	NM_023008.3	NP_075384.3	Q8N9T8	KRI1_HUMAN	KRI1 homolog (S. cerevisiae)	326	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)			ACGGCGCACGGAGGACGCGAT	0.622													13	45					0	0	1	0	0	A	10670353	G	A	10670353	3	1	312	1	0	0	0	0	1	0	0	0	8487	1174	41	2	1188	2	KRI1	19	10670353	Missense_Mutation	SNP	G	TCGA-HT-A5R5-01A-11D-A289-08		10670353	48458630	39	30007											
NUCB1	4924	broad.mit.edu	37	19	49422370	49422370	+	Silent	SNP	G	G	T			TCGA-HT-A5R5-01A-11D-A289-08	TCGA-HT-A5R5-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0686504d-9d1a-470d-bb1a-14fef0939d3f	c54b6c79-a24e-418f-a5f3-5bda53aebf79	g.chr19:49422370G>T	ENST00000405315.4	+	9	1234	c.900G>T	c.(898-900)gtG>gtT	p.V300V	NUCB1_ENST00000407032.1_Silent_p.V300V|NUCB1_ENST00000485798.1_Intron|NUCB1_ENST00000263273.5_Silent_p.V300V	NM_006184.5	NP_006175.2	Q02818	NUCB1_HUMAN	nucleobindin 1	300	Binds to GNAI2 and GNAI3 (By similarity).|EF-hand 2.			HV -> QL (in Ref. 1; AAA36383).		ER-Golgi intermediate compartment|extracellular space|Golgi apparatus|membrane|microtubule cytoskeleton	calcium ion binding|DNA binding			cervix(1)|endometrium(4)|large_intestine(4)|lung(8)	17		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000171)|all cancers(93;0.000333)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0244)		GGGAGCATGTGATGAAGAATG	0.622													4	39					0.000602214	0.000612251	1	1	0	T	49422370	G	T	49422370	2	4	312	1	0	0	0	0	0	0	0	1	10766	1277	45	5		5	NUCB1	19	49422370	Silent	SNP	G	TCGA-HT-A5R5-01A-11D-A289-08	38752017	49422370	9706613	40	30008											
NLRP8	126205	broad.mit.edu	37	19	56459540	56459540	+	Missense_Mutation	SNP	G	G	A	rs149738419		TCGA-HT-A5R5-01A-11D-A289-08	TCGA-HT-A5R5-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0686504d-9d1a-470d-bb1a-14fef0939d3f	c54b6c79-a24e-418f-a5f3-5bda53aebf79	g.chr19:56459540G>A	ENST00000291971.3	+	1	343	c.272G>A	c.(271-273)cGt>cAt	p.R91H	NLRP8_ENST00000590542.1_Missense_Mutation_p.R91H	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	91	DAPIN.					cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		TTGATAGAGCGTTTCCCTGGA	0.512													13	27					0	0	1	0	0	A	56459540	G	A	56459540	3	1	312	1	0	0	0	0	1	0	0	0	10530	1145	40	1	274	1	NLRP8	19	56459540	Missense_Mutation	SNP	G	TCGA-HT-A5R5-01A-11D-A289-08	7037170	56459540	2669443	41	30009											
SNRPB	6628	broad.mit.edu	37	20	2444499	2444499	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A5R5-01A-11D-A289-08	TCGA-HT-A5R5-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0686504d-9d1a-470d-bb1a-14fef0939d3f	c54b6c79-a24e-418f-a5f3-5bda53aebf79	g.chr20:2444499C>T	ENST00000339610.6	-	5	532	c.77G>A	c.(76-78)gGg>gAg	p.G26E	SNRPB_ENST00000381342.2_Missense_Mutation_p.G105E|SNRPB_ENST00000438552.2_Missense_Mutation_p.G105E			P14678	RSMB_HUMAN	small nuclear ribonucleoprotein polypeptides B and B1	105					histone mRNA metabolic process|ncRNA metabolic process|spliceosomal snRNP assembly|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nucleoplasm|U12-type spliceosomal complex|U7 snRNP	protein binding|RNA binding			kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	10						CCTGCCGATCCCTGGGCCCCC	0.587													5	135					0	0	1	0	0	T	2444499	C	T	2444499	3	4	312	1	0	0	0	0	1	0	0	0	14915	623	22	2	439	2	SNRPB	20	2444499	Missense_Mutation	SNP	C	TCGA-HT-A5R5-01A-11D-A289-08		2444499	60581021	42	30010											
PIWIL3	440822	broad.mit.edu	37	22	25119191	25119191	+	Nonsense_Mutation	SNP	G	G	A	rs147640812		TCGA-HT-A5R5-01A-11D-A289-08	TCGA-HT-A5R5-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0686504d-9d1a-470d-bb1a-14fef0939d3f	c54b6c79-a24e-418f-a5f3-5bda53aebf79	g.chr22:25119191G>A	ENST00000332271.5	-	19	2706	c.2290C>T	c.(2290-2292)Cga>Tga	p.R764*	PIWIL3_ENST00000532537.2_5'UTR|PIWIL3_ENST00000527701.1_Nonsense_Mutation_p.R646*|PIWIL3_ENST00000533313.1_Nonsense_Mutation_p.R646*	NM_001008496.3|NM_001255975.1	NP_001008496.2|NP_001242904.1	Q7Z3Z3	PIWL3_HUMAN	piwi-like RNA-mediated gene silencing 3	764	Piwi.				cell differentiation|gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatogenesis	cytoplasm	RNA binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						GTGTTTATTCGTTTCTTCACC	0.343													3	41					0	0	1	0	0	A	25119191	G	A	25119191	4	1	312	1	0	0	0	0	0	1	0	0	12007	1153	40	1	370	1	PIWIL3	22	25119191	Nonsense_Mutation	SNP	G	TCGA-HT-A5R5-01A-11D-A289-08		25119191	26185375	43	30011											
DMD	1756	broad.mit.edu	37	X	31747794	31747794	+	Silent	SNP	T	T	C			TCGA-HT-A5R5-01A-11D-A289-08	TCGA-HT-A5R5-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0686504d-9d1a-470d-bb1a-14fef0939d3f	c54b6c79-a24e-418f-a5f3-5bda53aebf79	g.chrX:31747794T>C	ENST00000357033.4	-	52	7820	c.7614A>G	c.(7612-7614)aaA>aaG	p.K2538K	DMD_ENST00000378707.3_Silent_p.K78K|DMD_ENST00000359836.1_Silent_p.K78K|DMD_ENST00000378677.2_Silent_p.K2534K|DMD_ENST00000541735.1_Silent_p.K78K|DMD_ENST00000474231.1_Silent_p.K78K|DMD_ENST00000343523.2_Silent_p.K78K	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	2538					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TGGTCTTGTTTTTCAAATTTT	0.413													48	84					0	0	1	0	0	C	31747794	T	C	31747794	2	2	312	1	0	0	0	0	0	0	0	1	4608	1838	64	3		3	DMD	23	31747794	Silent	SNP	T	TCGA-HT-A5R5-01A-11D-A289-08		31747794	123522766	44	30012											
ATRX	546	broad.mit.edu	37	X	76937081	76937081	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HT-A5R5-01A-11D-A289-08	TCGA-HT-A5R5-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0686504d-9d1a-470d-bb1a-14fef0939d3f	c54b6c79-a24e-418f-a5f3-5bda53aebf79	g.chrX:76937081C>A	ENST00000373344.5	-	9	3881	c.3667G>T	c.(3667-3669)Gaa>Taa	p.E1223*	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Nonsense_Mutation_p.E1185*	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1223					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.E1223Q(2)|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)	ATTTTCTGTTCATCGCTGCTT	0.343			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						17	54					2.48551e-13	2.65993e-13	1	1	0	A	76937081	C	A	76937081	4	1	312	1	0	0	0	0	0	1	0	0	1206	835	29	5	3919	5	ATRX	23	76937081	Nonsense_Mutation	SNP	C	TCGA-HT-A5R5-01A-11D-A289-08	45189287	76937081	78333479	45	30013											
ATRX	546	broad.mit.edu	37	X	76939554	76939554	+	Silent	SNP	C	C	G			TCGA-HT-A5R5-01A-11D-A289-08	TCGA-HT-A5R5-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0686504d-9d1a-470d-bb1a-14fef0939d3f	c54b6c79-a24e-418f-a5f3-5bda53aebf79	g.chrX:76939554C>G	ENST00000373344.5	-	9	1408	c.1194G>C	c.(1192-1194)gtG>gtC	p.V398V	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Silent_p.V360V	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	398					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)	TATCAGCCAACACAGACTTAA	0.363			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						5	333					0	0	1	0	0	G	76939554	C	G	76939554	2	3	312	1	0	0	0	0	0	0	0	1	1206	465	17	5		5	ATRX	23	76939554	Silent	SNP	C	TCGA-HT-A5R5-01A-11D-A289-08	2473	76939554	78331006	46	30014											
GAB3	139716	broad.mit.edu	37	X	153906497	153906497	+	Missense_Mutation	SNP	G	G	C			TCGA-HT-A5R5-01A-11D-A289-08	TCGA-HT-A5R5-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0686504d-9d1a-470d-bb1a-14fef0939d3f	c54b6c79-a24e-418f-a5f3-5bda53aebf79	g.chrX:153906497G>C	ENST00000369575.3	-	10	1750	c.1719C>G	c.(1717-1719)agC>agG	p.S573R	GAB3_ENST00000496390.1_5'UTR|GAB3_ENST00000424127.2_Missense_Mutation_p.S574R	NM_001081573.1|NM_080612.2	NP_001075042.1|NP_542179.1	Q8WWW8	GAB3_HUMAN	GRB2-associated binding protein 3	573										NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)	25	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					CCTGTTTTGTGCTCTGGAGAG	0.463													6	101					0	0	1	0	0	C	153906497	G	C	153906497	3	2	312	1	0	0	0	0	1	0	0	0	6185	1310	46	5	45	5	GAB3	23	153906497	Missense_Mutation	SNP	G	TCGA-HT-A5R5-01A-11D-A289-08	76966943	153906497	1364063	47	30015											
PPM1J	333926	broad.mit.edu	37	1	113257684	113257684	+	Silent	SNP	C	C	T			TCGA-HT-A5R7-01A-11D-A289-08	TCGA-HT-A5R7-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5	45ec553b-1e7a-4b3c-86a1-c3f1547c1b43	g.chr1:113257684C>T	ENST00000309276.6	-	1	415	c.240G>A	c.(238-240)ctG>ctA	p.L80L	PPM1J_ENST00000464951.1_5'UTR	NM_005167.5	NP_005158.5	Q5JR12	PPM1J_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1J	80										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	14	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CGGCGCGTCGCAGCCCCCCGG	0.741													3	15					0	0	1	0	0	T	113257684	C	T	113257684	2	4	313	1	0	0	0	0	0	0	0	1	12391	697	25	2		2	PPM1J	1	113257684	Silent	SNP	C	TCGA-HT-A5R7-01A-11D-A289-08		113257684	135992937	1	30016											
TEDDM1	127670	broad.mit.edu	37	1	182369551	182369551	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-A5R7-01A-11D-A289-08	TCGA-HT-A5R7-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5	45ec553b-1e7a-4b3c-86a1-c3f1547c1b43	g.chr1:182369551A>G	ENST00000367565.1	-	1	200	c.70T>C	c.(70-72)Tgg>Cgg	p.W24R		NM_172000.3	NP_741997.3	Q5T9Z0	TEDM1_HUMAN	transmembrane epididymal protein 1	24						integral to membrane				haematopoietic_and_lymphoid_tissue(1)|lung(4)|ovary(2)	7						GCTATTTTCCACAGCCTGGCA	0.463													6	95					0	0	1	0	0	G	182369551	A	G	182369551	3	3	313	1	0	0	0	0	1	0	0	0	15808	159	6	3	755	3	TEDDM1	1	182369551	Missense_Mutation	SNP	A	TCGA-HT-A5R7-01A-11D-A289-08	69111867	182369551	66881070	2	30017											
F13B	2165	broad.mit.edu	37	1	197031010	197031010	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A5R7-01A-11D-A289-08	TCGA-HT-A5R7-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5	45ec553b-1e7a-4b3c-86a1-c3f1547c1b43	g.chr1:197031010C>T	ENST00000367412.1	-	3	398	c.355G>A	c.(355-357)Gct>Act	p.A119T		NM_001994.2	NP_001985.2	P05160	F13B_HUMAN	coagulation factor XIII, B polypeptide	119	Sushi 2.				blood coagulation	extracellular region				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						TACCCTGAAGCGCAACCATAA	0.403													4	30					0	0	1	0	0	T	197031010	C	T	197031010	3	4	313	1	0	0	0	0	1	0	0	0	5369	768	27	1	1670	1	F13B	1	197031010	Missense_Mutation	SNP	C	TCGA-HT-A5R7-01A-11D-A289-08	14661459	197031010	52219611	3	30018											
RASGRP3	25780	broad.mit.edu	37	2	33745641	33745641	+	Silent	SNP	T	T	G			TCGA-HT-A5R7-01A-11D-A289-08	TCGA-HT-A5R7-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5	45ec553b-1e7a-4b3c-86a1-c3f1547c1b43	g.chr2:33745641T>G	ENST00000403687.3	+	6	998	c.258T>G	c.(256-258)ccT>ccG	p.P86P	RASGRP3_ENST00000407811.1_Silent_p.P86P|RASGRP3_ENST00000402538.3_Silent_p.P86P	NM_001139488.1	NP_001132960.1	Q8IV61	GRP3_HUMAN	RAS guanyl releasing protein 3 (calcium and DAG-regulated)	86	N-terminal Ras-GEF.				MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity|protein binding|Rap GTPase activator activity|signal transducer activity			large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|stomach(2)	11	all_hematologic(175;0.115)					TGAAGTTTCCTGCAGAGTTTA	0.398													9	208					0	0	1	0	0	G	33745641	T	G	33745641	2	3	313	1	0	0	0	0	0	0	0	1	13128	1567	55	5		5	RASGRP3	2	33745641	Silent	SNP	T	TCGA-HT-A5R7-01A-11D-A289-08		33745641	209453732	4	30019											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-HT-A5R7-01A-11D-A289-08	TCGA-HT-A5R7-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5	45ec553b-1e7a-4b3c-86a1-c3f1547c1b43	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	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								10	44					0	0	1	0	0	T	209113112	C	T	209113112	3	4	313	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HT-A5R7-01A-11D-A289-08	175367471	209113112	34086261	5	30020											
VIL1	7429	broad.mit.edu	37	2	219299258	219299258	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-A5R7-01A-11D-A289-08	TCGA-HT-A5R7-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5	45ec553b-1e7a-4b3c-86a1-c3f1547c1b43	g.chr2:219299258T>C	ENST00000248444.5	+	14	1598	c.1510T>C	c.(1510-1512)Tcc>Ccc	p.S504P	VIL1_ENST00000392114.2_Missense_Mutation_p.S193P	NM_007127.2	NP_009058.2	P09327	VILI_HUMAN	villin 1	504	Core.				actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium	actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle	actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Renal(207;0.0474)		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGGAGGCACCTCCCGAACTAA	0.607													11	85					0	0	1	0	0	C	219299258	T	C	219299258	3	2	313	1	0	0	0	0	1	0	0	0	17224	1551	54	3	1560	3	VIL1	2	219299258	Missense_Mutation	SNP	T	TCGA-HT-A5R7-01A-11D-A289-08	10186146	219299258	23900115	6	30021											
NUP210	23225	broad.mit.edu	37	3	13363258	13363258	+	Missense_Mutation	SNP	G	G	C			TCGA-HT-A5R7-01A-11D-A289-08	TCGA-HT-A5R7-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5	45ec553b-1e7a-4b3c-86a1-c3f1547c1b43	g.chr3:13363258G>C	ENST00000254508.5	-	36	5075	c.4993C>G	c.(4993-4995)Ctg>Gtg	p.L1665V		NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	1665					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					CTGACCACCAGAGCTGTCTTC	0.582													72	175					0	0	1	0	0	C	13363258	G	C	13363258	3	2	313	1	0	0	0	0	1	0	0	0	10808	933	33	4	690	4	NUP210	3	13363258	Missense_Mutation	SNP	G	TCGA-HT-A5R7-01A-11D-A289-08		13363258	184659172	7	30022											
FBLN2	2199	broad.mit.edu	37	3	13655525	13655525	+	Silent	SNP	C	C	T			TCGA-HT-A5R7-01A-11D-A289-08	TCGA-HT-A5R7-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5	45ec553b-1e7a-4b3c-86a1-c3f1547c1b43	g.chr3:13655525C>T	ENST00000404922.3	+	5	1709	c.1590C>T	c.(1588-1590)gcC>gcT	p.A530A	FBLN2_ENST00000295760.7_Silent_p.A530A|FBLN2_ENST00000492059.1_Silent_p.A530A|FBLN2_ENST00000535798.1_Silent_p.A556A	NM_001004019.1	NP_001004019.1	P98095	FBLN2_HUMAN	fibulin 2	530	Anaphylatoxin-like 3.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			GCGTGCGGGCCGAGGGCCAGT	0.597													13	36					0	0	1	0	0	T	13655525	C	T	13655525	2	4	313	1	0	0	0	0	0	0	0	1	5732	639	23	1		1	FBLN2	3	13655525	Silent	SNP	C	TCGA-HT-A5R7-01A-11D-A289-08	292267	13655525	184366905	8	30023											
TOMM70A	9868	broad.mit.edu	37	3	100096610	100096610	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-A5R7-01A-11D-A289-08	TCGA-HT-A5R7-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5	45ec553b-1e7a-4b3c-86a1-c3f1547c1b43	g.chr3:100096610T>C	ENST00000284320.5	-	6	1479	c.1031A>G	c.(1030-1032)aAt>aGt	p.N344S		NM_014820.4	NP_055635.3	O94826	TOM70_HUMAN	translocase of outer mitochondrial membrane 70 homolog A (S. cerevisiae)	344					protein targeting to mitochondrion	integral to membrane|mitochondrial outer membrane translocase complex	protein binding|protein transmembrane transporter activity			endometrium(11)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	32						TGCATTGGCATTGCCAATAAG	0.348													26	52					0	0	1	0	0	C	100096610	T	C	100096610	3	2	313	1	0	0	0	0	1	0	0	0	16423	1493	52	3	823	3	TOMM70A	3	100096610	Missense_Mutation	SNP	T	TCGA-HT-A5R7-01A-11D-A289-08	86441085	100096610	97925820	9	30024											
SEC31A	22872	broad.mit.edu	37	4	83742201	83742201	+	Silent	SNP	T	T	G			TCGA-HT-A5R7-01A-11D-A289-08	TCGA-HT-A5R7-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5	45ec553b-1e7a-4b3c-86a1-c3f1547c1b43	g.chr4:83742201T>G	ENST00000432794.1	-	27	3674	c.3511A>C	c.(3511-3513)Agg>Cgg	p.R1171R	SEC31A_ENST00000395310.2_Silent_p.R1158R|SEC31A_ENST00000509142.1_Silent_p.R1044R|SEC31A_ENST00000311785.7_Silent_p.R1044R|SEC31A_ENST00000355196.2_Silent_p.R1158R|SEC31A_ENST00000500777.2_Silent_p.R1005R|SEC31A_ENST00000505472.1_Silent_p.R1189R|SEC31A_ENST00000326950.5_Silent_p.R1119R|SEC31A_ENST00000505984.1_Silent_p.R1104R|SEC31A_ENST00000513858.1_Silent_p.R1005R|SEC31A_ENST00000508502.1_Silent_p.R1143R|SEC31A_ENST00000348405.4_Silent_p.R1119R|SEC31A_ENST00000443462.2_Silent_p.R1138R|SEC31A_ENST00000264405.5_Silent_p.R907R|SEC31A_ENST00000448323.1_Silent_p.R1158R			O94979	SC31A_HUMAN	SEC31 homolog A (S. cerevisiae)	1158					COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|response to calcium ion	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	calcium-dependent protein binding		SEC31A/ALK(3)|SEC31A/JAK2(4)	breast(1)	1		Hepatocellular(203;0.114)				GTCTGTTCCCTAAGTTTATCA	0.343													43	111					0	0	1	0	0	G	83742201	T	G	83742201	2	3	313	1	0	0	0	0	0	0	0	1	14052	1521	53	5		5	SEC31A	4	83742201	Silent	SNP	T	TCGA-HT-A5R7-01A-11D-A289-08		83742201	107412075	10	30025											
TMEM144	55314	broad.mit.edu	37	4	159138571	159138571	+	Splice_Site	SNP	A	A	G			TCGA-HT-A5R7-01A-11D-A289-08	TCGA-HT-A5R7-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5	45ec553b-1e7a-4b3c-86a1-c3f1547c1b43	g.chr4:159138571A>G	ENST00000514558.1	+	4	2127	c.331A>G	c.(331-333)Agg>Ggg	p.R111G	TMEM144_ENST00000296529.6_Splice_Site_p.R111G			Q7Z5S9	TM144_HUMAN	transmembrane protein 144	111						integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(7)|lung(9)|prostate(1)	19	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0539)		GGCAAGCTCAAGGTAATTCAA	0.378													3	44					0	0	1	0	0	G	159138571	A	G	159138571	5	3	313	1	0	0	0	0	0	0	1	0	16118	86	3	3	341	3	TMEM144	4	159138571	Splice_Site	SNP	A	TCGA-HT-A5R7-01A-11D-A289-08	75396370	159138571	32015705	11	30026											
FLT4	2324	broad.mit.edu	37	5	180056949	180056949	+	Missense_Mutation	SNP	T	T	A			TCGA-HT-A5R7-01A-11D-A289-08	TCGA-HT-A5R7-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5	45ec553b-1e7a-4b3c-86a1-c3f1547c1b43	g.chr5:180056949T>A	ENST00000261937.6	-	5	748	c.670A>T	c.(670-672)Atc>Ttc	p.I224F	FLT4_ENST00000393347.3_Missense_Mutation_p.I224F|FLT4_ENST00000424276.2_5'UTR|FLT4_ENST00000502649.1_Missense_Mutation_p.I224F	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	224	Ig-like C2-type 3.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	TTACCTGTGATGTGCACCAGG	0.622													4	61					0	0	1	0	0	A	180056949	T	A	180056949	3	1	313	1	0	0	0	0	1	0	0	0	5977	1464	51	4	3533	4	FLT4	5	180056949	Missense_Mutation	SNP	T	TCGA-HT-A5R7-01A-11D-A289-08		180056949	858311	12	30027											
BRPF3	27154	broad.mit.edu	37	6	36169409	36169409	+	Missense_Mutation	SNP	T	T	G			TCGA-HT-A5R7-01A-11D-A289-08	TCGA-HT-A5R7-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5	45ec553b-1e7a-4b3c-86a1-c3f1547c1b43	g.chr6:36169409T>G	ENST00000357641.6	+	2	1563	c.1310T>G	c.(1309-1311)gTg>gGg	p.V437G	BRPF3_ENST00000534400.1_Missense_Mutation_p.V437G|BRPF3_ENST00000534694.1_Missense_Mutation_p.V437G|BRPF3_ENST00000443324.2_Missense_Mutation_p.V437G|BRPF3_ENST00000543502.1_Missense_Mutation_p.V437G|BRPF3_ENST00000339717.7_Missense_Mutation_p.V437G	NM_015695.2	NP_056510.2	Q9ULD4	BRPF3_HUMAN	bromodomain and PHD finger containing, 3	437					histone H3 acetylation|platelet activation|platelet degranulation	cytosol|extracellular region|MOZ/MORF histone acetyltransferase complex	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	40						CAAGGCGGGGTGAGTGGCTCC	0.547													13	36					0	0	1	0	0	G	36169409	T	G	36169409	3	3	313	1	0	0	0	0	1	0	0	0	1523	1696	59	5	1312	5	BRPF3	6	36169409	Missense_Mutation	SNP	T	TCGA-HT-A5R7-01A-11D-A289-08		36169409	134945658	13	30028											
MED23	9439	broad.mit.edu	37	6	131913582	131913582	+	Silent	SNP	T	T	C			TCGA-HT-A5R7-01A-11D-A289-08	TCGA-HT-A5R7-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5	45ec553b-1e7a-4b3c-86a1-c3f1547c1b43	g.chr6:131913582T>C	ENST00000403834.3	-	25	3608	c.3435A>G	c.(3433-3435)agA>agG	p.R1145R	MED23_ENST00000368068.3_Silent_p.R1139R|MED23_ENST00000368058.1_Silent_p.R1145R|MED23_ENST00000545957.1_Silent_p.R780R|MED23_ENST00000479213.1_5'UTR|MED23_ENST00000354577.4_Silent_p.R1145R|MED23_ENST00000368060.3_Silent_p.R1139R			Q9ULK4	MED23_HUMAN	mediator complex subunit 23	1139					regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor complex	protein binding|transcription coactivator activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	44	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)		TAATGTTCTCTCTTGGCACTA	0.353													18	76					0	0	1	0	0	C	131913582	T	C	131913582	2	2	313	1	0	0	0	0	0	0	0	1	9491	1548	54	3		3	MED23	6	131913582	Silent	SNP	T	TCGA-HT-A5R7-01A-11D-A289-08	95744173	131913582	39201485	14	30029											
AKAP9	10142	broad.mit.edu	37	7	91732039	91732039	+	Frame_Shift_Del	DEL	G	G	-	rs143306820		TCGA-HT-A5R7-01A-11D-A289-08	TCGA-HT-A5R7-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5	45ec553b-1e7a-4b3c-86a1-c3f1547c1b43	g.chr7:91732039delG	ENST00000359028.2	+	46	11466	c.11241delG	c.(11239-11241)atgfs	p.M3747fs	AKAP9_ENST00000358100.2_Frame_Shift_Del_p.M3693fs|AKAP9_ENST00000356239.3_Frame_Shift_Del_p.M3743fs			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	3747					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TTGCCCGGATGGGGGGGCAGC	0.537			T	BRAF	papillary thyroid								8	1930	---	---	---	---						-	91732039	G	-	91732039	7	5	313	1	0	1	0	1	0	0	0	0	456	1348	47	0	11411	0	AKAP9	7	91732039	Frame_Shift_Del	DEL	G	TCGA-HT-A5R7-01A-11D-A289-08		91732039	67406624	15	30030											
MUC17	140453	broad.mit.edu	37	7	100684757	100684757	+	Missense_Mutation	SNP	A	A	T			TCGA-HT-A5R7-01A-11D-A289-08	TCGA-HT-A5R7-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5	45ec553b-1e7a-4b3c-86a1-c3f1547c1b43	g.chr7:100684757A>T	ENST00000306151.4	+	3	10124	c.10060A>T	c.(10060-10062)Agt>Tgt	p.S3354C		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3354	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GCCAGTGGTCAGTTCTGAGGC	0.483													30	456					0	0	1	0	0	T	100684757	A	T	100684757	3	4	313	1	0	0	0	0	1	0	0	0	10022	188	7	5	10070	5	MUC17	7	100684757	Missense_Mutation	SNP	A	TCGA-HT-A5R7-01A-11D-A289-08	8952718	100684757	58453906	16	30031											
GRHL2	79977	broad.mit.edu	37	8	102582593	102582593	+	Silent	SNP	T	T	G			TCGA-HT-A5R7-01A-11D-A289-08	TCGA-HT-A5R7-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5	45ec553b-1e7a-4b3c-86a1-c3f1547c1b43	g.chr8:102582593T>G	ENST00000251808.3	+	5	1043	c.705T>G	c.(703-705)gcT>gcG	p.A235A	GRHL2_ENST00000395927.1_Silent_p.A219A	NM_024915.3	NP_079191.2	Q6ISB3	GRHL2_HUMAN	grainyhead-like 2 (Drosophila)	235						cytoplasm|nucleus	DNA binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05)		Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213)			CAGTTGGGGCTGAGGAGTACA	0.343													5	80					0	0	1	0	0	G	102582593	T	G	102582593	2	3	313	1	0	0	0	0	0	0	0	1	6805	1567	55	5		5	GRHL2	8	102582593	Silent	SNP	T	TCGA-HT-A5R7-01A-11D-A289-08		102582593	43781429	17	30032											
GKAP1	80318	broad.mit.edu	37	9	86383805	86383821	+	Frame_Shift_Del	DEL	AATAAGAATTTTATGAA	AATAAGAATTTTATGAA	-			TCGA-HT-A5R7-01A-11D-A289-08	TCGA-HT-A5R7-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5	45ec553b-1e7a-4b3c-86a1-c3f1547c1b43	g.chr9:86383805_86383821delAATAAGAATTTTATGAA	ENST00000376371.2	-	8	1050_1066	c.650_666delTTCATAAAATTCTTATT	c.(649-666)gttcataaaattcttattfs	p.VHKILI217fs	GKAP1_ENST00000376365.3_Intron	NM_025211.3	NP_079487.2	Q5VSY0	GKAP1_HUMAN	G kinase anchoring protein 1	217					signal transduction	Golgi apparatus				endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)	14						GTTTTTCTCTAATAAGAATTTTATGAACATCATCTTC	0.318													8	35	---	---	---	---						-	86383821	AATAAGAATTTTATGAA	-	86383805	7	5	313	1	0	1	0	1	0	0	0	0	6465	358	13	0	458	0	GKAP1	9	86383805	Frame_Shift_Del	DEL	AATAAGAATTTTATGAA	TCGA-HT-A5R7-01A-11D-A289-08		86383805	54829626	18	30033											
S1PR3	1903	broad.mit.edu	37	9	91616909	91616909	+	Missense_Mutation	SNP	T	T	C	rs145125543	byFrequency	TCGA-HT-A5R7-01A-11D-A289-08	TCGA-HT-A5R7-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5	45ec553b-1e7a-4b3c-86a1-c3f1547c1b43	g.chr9:91616909T>C	ENST00000375846.3	+	1	5489	c.794T>C	c.(793-795)aTt>aCt	p.I265T	S1PR3_ENST00000358157.2_Missense_Mutation_p.I265T			Q99500	S1PR3_HUMAN	sphingosine-1-phosphate receptor 3	265					anatomical structure morphogenesis|elevation of cytosolic calcium ion concentration|inflammatory response|positive regulation of cell proliferation	integral to plasma membrane	lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity	p.I265T(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(1)	34						CTCTTCCTCATTGATGTGGCC	0.587													4	57					0	0	1	0	0	C	91616909	T	C	91616909	3	2	313	1	0	0	0	0	1	0	0	0	13847	1493	52	3	796	3	S1PR3	9	91616909	Missense_Mutation	SNP	T	TCGA-HT-A5R7-01A-11D-A289-08	5233104	91616909	49596522	19	30034											
MYEOV	26579	broad.mit.edu	37	11	69063311	69063311	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A5R7-01A-11D-A289-08	TCGA-HT-A5R7-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5	45ec553b-1e7a-4b3c-86a1-c3f1547c1b43	g.chr11:69063311C>T	ENST00000535407.1	+	2	863	c.220C>T	c.(220-222)Cgg>Tgg	p.R74W	MYEOV_ENST00000441339.2_Missense_Mutation_p.R132W|MYEOV_ENST00000308946.3_Missense_Mutation_p.R132W			Q96EZ4	MYEOV_HUMAN	myeloma overexpressed	132										endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|urinary_tract(1)	24	all_lung(4;2.21e-19)|Lung NSC(4;6.13e-19)|Melanoma(5;0.00128)		LUSC - Lung squamous cell carcinoma(11;3.33e-11)|STAD - Stomach adenocarcinoma(18;0.00654)|LUAD - Lung adenocarcinoma(13;0.0713)	Kidney(183;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(183;3.23e-08)|Lung(977;0.00361)|LUSC - Lung squamous cell carcinoma(976;0.0153)		GGACGTGTCCCGGGCCAGGAG	0.617													19	168					0	0	1	0	0	T	69063311	C	T	69063311	3	4	313	1	0	0	0	0	1	0	0	0	10073	643	23	1	400	1	MYEOV	11	69063311	Missense_Mutation	SNP	C	TCGA-HT-A5R7-01A-11D-A289-08		69063311	65943205	20	30035											
ANO2	57101	broad.mit.edu	37	12	5672710	5672710	+	Missense_Mutation	SNP	G	G	C			TCGA-HT-A5R7-01A-11D-A289-08	TCGA-HT-A5R7-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5	45ec553b-1e7a-4b3c-86a1-c3f1547c1b43	g.chr12:5672710G>C	ENST00000356134.5	-	27	2826	c.2755C>G	c.(2755-2757)Ctc>Gtc	p.L919V	ANO2_ENST00000327087.8_Missense_Mutation_p.L918V|ANO2_ENST00000546188.1_Missense_Mutation_p.L919V	NM_001278596.1	NP_001265525.1	Q9NQ90	ANO2_HUMAN	anoctamin 2	923						chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						CAGTCCACGAGGACGCTCAGG	0.552													9	121					0	0	1	0	0	C	5672710	G	C	5672710	3	2	313	1	0	0	0	0	1	0	0	0	691	1000	35	4	248	4	ANO2	12	5672710	Missense_Mutation	SNP	G	TCGA-HT-A5R7-01A-11D-A289-08		5672710	128179185	21	30036											
NUP107	57122	broad.mit.edu	37	12	69125432	69125432	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A5R7-01A-11D-A289-08	TCGA-HT-A5R7-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5	45ec553b-1e7a-4b3c-86a1-c3f1547c1b43	g.chr12:69125432G>A	ENST00000229179.4	+	22	2263	c.1931G>A	c.(1930-1932)cGa>cAa	p.R644Q	NUP107_ENST00000539906.1_Missense_Mutation_p.R615Q|NUP107_ENST00000378905.2_Intron	NM_020401.2	NP_065134.1	P57740	NU107_HUMAN	nucleoporin 107kDa	644					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding		NUP107/LGR5(2)	breast(3)|endometrium(4)|kidney(4)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(2)	39	Breast(13;6.25e-06)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)			GAGAATATTCGAAAGAAAGAT	0.353													4	47					0	0	1	0	0	A	69125432	G	A	69125432	3	1	313	1	0	0	0	0	1	0	0	0	10801	1058	37	1	2017	1	NUP107	12	69125432	Missense_Mutation	SNP	G	TCGA-HT-A5R7-01A-11D-A289-08	63452722	69125432	64726463	22	30037											
SLC5A8	160728	broad.mit.edu	37	12	101577988	101577988	+	Missense_Mutation	SNP	A	A	T			TCGA-HT-A5R7-01A-11D-A289-08	TCGA-HT-A5R7-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5	45ec553b-1e7a-4b3c-86a1-c3f1547c1b43	g.chr12:101577988A>T	ENST00000536262.2	-	8	1534	c.976T>A	c.(976-978)Ttg>Atg	p.L326M		NM_145913.3	NP_666018.3	Q8N695	SC5A8_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8	326					apoptosis|sodium ion transport	apical plasma membrane|integral to membrane	monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						TCCAGTACCAAATAAGGCATG	0.363													3	29					0	0	1	0	0	T	101577988	A	T	101577988	3	4	313	1	0	0	0	0	1	0	0	0	14726	11	1	5	888	5	SLC5A8	12	101577988	Missense_Mutation	SNP	A	TCGA-HT-A5R7-01A-11D-A289-08	32452556	101577988	32273907	23	30038											
CKMT1A	548596	broad.mit.edu	37	15	43991229	43991229	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A5R7-01A-11D-A289-08	TCGA-HT-A5R7-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5	45ec553b-1e7a-4b3c-86a1-c3f1547c1b43	g.chr15:43991229G>A	ENST00000413453.2	+	9	1720	c.1196G>A	c.(1195-1197)cGt>cAt	p.R399H	STRC_ENST00000541030.1_Intron|CKMT1A_ENST00000434505.1_Missense_Mutation_p.R399H			P12532	KCRU_HUMAN	creatine kinase, mitochondrial 1A	399	Phosphagen kinase C-terminal.				creatine metabolic process	mitochondrial inner membrane	ATP binding|creatine kinase activity			lung(4)	4		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)	Creatine(DB00148)	TGTGAACGGCGTCTGGAGAGA	0.493													6	137					0	0	1	0	0	A	43991229	G	A	43991229	3	1	313	1	0	0	0	0	1	0	0	0	3472	1145	40	1	1230	1	CKMT1A	15	43991229	Missense_Mutation	SNP	G	TCGA-HT-A5R7-01A-11D-A289-08		43991229	58540163	24	30039											
CIB1	10519	broad.mit.edu	37	15	90775542	90775542	+	Missense_Mutation	SNP	C	C	A			TCGA-HT-A5R7-01A-11D-A289-08	TCGA-HT-A5R7-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5	45ec553b-1e7a-4b3c-86a1-c3f1547c1b43	g.chr15:90775542C>A	ENST00000328649.6	-	3	265	c.104G>T	c.(103-105)tGt>tTt	p.C35F		NM_006384.3	NP_006375.2	Q99828	CIB1_HUMAN	calcium and integrin binding 1 (calmyrin)	35					apoptosis|cell adhesion|double-strand break repair	apical plasma membrane|endoplasmic reticulum|filopodium|nucleoplasm	calcium ion binding|protein binding			lung(1)|prostate(1)	2	Melanoma(11;0.00551)|Lung NSC(78;0.0141)|all_lung(78;0.0303)		BRCA - Breast invasive adenocarcinoma(143;0.00269)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.217)			AAGCAGCTCACAAAACCGCCT	0.587													6	38					6.53348e-20	6.87734e-20	1	1	0	A	90775542	C	A	90775542	3	1	313	1	0	0	0	0	1	0	0	0	3442	478	17	5	491	5	CIB1	15	90775542	Missense_Mutation	SNP	C	TCGA-HT-A5R7-01A-11D-A289-08	46784313	90775542	11755850	25	30040											
GRIN2A	2903	broad.mit.edu	37	16	10274071	10274071	+	Silent	SNP	G	G	A			TCGA-HT-A5R7-01A-11D-A289-08	TCGA-HT-A5R7-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5	45ec553b-1e7a-4b3c-86a1-c3f1547c1b43	g.chr16:10274071G>A	ENST00000396573.2	-	3	507	c.198C>T	c.(196-198)gaC>gaT	p.D66D	GRIN2A_ENST00000330684.3_Silent_p.D66D|GRIN2A_ENST00000396575.2_Silent_p.D66D|GRIN2A_ENST00000562109.1_Silent_p.D66D|GRIN2A_ENST00000404927.2_Silent_p.D66D	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	66					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	CCACGTTCACGTCCAGGGGCA	0.642													10	154					0	0	1	0	0	A	10274071	G	A	10274071	2	1	313	1	0	0	0	0	0	0	0	1	6820	1136	40	1		1	GRIN2A	16	10274071	Silent	SNP	G	TCGA-HT-A5R7-01A-11D-A289-08		10274071	80080682	26	30041											
NOL3	8996	broad.mit.edu	37	16	67208077	67208077	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A5R7-01A-11D-A289-08	TCGA-HT-A5R7-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5	45ec553b-1e7a-4b3c-86a1-c3f1547c1b43	g.chr16:67208077G>A	ENST00000432069.2	+	4	577	c.5G>A	c.(4-6)gGc>gAc	p.G2D	NOL3_ENST00000568146.1_Missense_Mutation_p.G2D|NOL3_ENST00000268605.7_Missense_Mutation_p.G2D|NOL3_ENST00000564053.1_Missense_Mutation_p.G64D	NM_001276309.1|NM_001276312.1|NM_001276319.1	NP_001263238.1|NP_001263241.1|NP_001263248.1	O60936	NOL3_HUMAN	nucleolar protein 3 (apoptosis repressor with CARD domain)	2					anti-apoptosis|apoptosis|mRNA processing|RNA splicing	cytosol|nucleolus	identical protein binding|RNA binding			ovary(1)	1		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184)		CCGACAATGGGCAACGCGCAG	0.672													11	29					0	0	1	0	0	A	67208077	G	A	67208077	3	1	313	1	0	0	0	0	1	0	0	0	10570	1203	42	2	7	2	NOL3	16	67208077	Missense_Mutation	SNP	G	TCGA-HT-A5R7-01A-11D-A289-08	56934006	67208077	23146676	27	30042											
FOXN1	8456	broad.mit.edu	37	17	26861989	26861989	+	Missense_Mutation	SNP	C	C	A			TCGA-HT-A5R7-01A-11D-A289-08	TCGA-HT-A5R7-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5	45ec553b-1e7a-4b3c-86a1-c3f1547c1b43	g.chr17:26861989C>A	ENST00000226247.2	+	7	1429	c.1400C>A	c.(1399-1401)cCc>cAc	p.P467H	FOXN1_ENST00000579795.1_Missense_Mutation_p.P467H	NM_003593.2	NP_003584.2	O15353	FOXN1_HUMAN	forkhead box N1	467					defense response|embryo development|epithelial cell proliferation|keratinocyte differentiation|organ morphogenesis|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|thymus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Lung NSC(42;0.00431)					CCTCCTGGACCCCCGCAGCCA	0.677													8	69					0.000157383	0.000157383	1	1	0	A	26861989	C	A	26861989	3	1	313	1	0	0	0	0	1	0	0	0	6053	623	22	5	1426	5	FOXN1	17	26861989	Missense_Mutation	SNP	C	TCGA-HT-A5R7-01A-11D-A289-08		26861989	54333221	28	30043											
BAIAP2	10458	broad.mit.edu	37	17	79059482	79059482	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A5R7-01A-11D-A289-08	TCGA-HT-A5R7-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5	45ec553b-1e7a-4b3c-86a1-c3f1547c1b43	g.chr17:79059482C>T	ENST00000321300.6	+	5	401	c.308C>T	c.(307-309)aCg>aTg	p.T103M	BAIAP2_ENST00000428708.2_Missense_Mutation_p.T103M|BAIAP2_ENST00000575712.1_Missense_Mutation_p.T103M|BAIAP2_ENST00000573894.1_3'UTR|BAIAP2_ENST00000575245.1_Missense_Mutation_p.T136M|BAIAP2_ENST00000392411.3_Missense_Mutation_p.T25M|BAIAP2_ENST00000321280.7_Missense_Mutation_p.T103M|BAIAP2_ENST00000435091.3_Missense_Mutation_p.T103M	NM_001144888.1|NM_017451.2	NP_001138360.1|NP_059345.1	Q9UQB8	BAIP2_HUMAN	BAI1-associated protein 2	103	IMD.				axonogenesis|filopodium assembly|insulin receptor signaling pathway|regulation of actin cytoskeleton organization|response to bacterium	cell junction|cytoskeleton|cytosol|filopodium|nucleus|ruffle	cytoskeletal adaptor activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)	18	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			GAGCTGCTTACGCAGCTGGAG	0.602													4	72					0	0	1	0	0	T	79059482	C	T	79059482	3	4	313	1	0	0	0	0	1	0	0	0	1299	536	19	1	326	1	BAIAP2	17	79059482	Missense_Mutation	SNP	C	TCGA-HT-A5R7-01A-11D-A289-08	52197493	79059482	2135728	29	30044											
DEDD2	162989	broad.mit.edu	37	19	42721095	42721095	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A5R7-01A-11D-A289-08	TCGA-HT-A5R7-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5	45ec553b-1e7a-4b3c-86a1-c3f1547c1b43	g.chr19:42721095C>T	ENST00000595337.1	-	2	152	c.65G>A	c.(64-66)gGg>gAg	p.G22E	DEDD2_ENST00000598727.1_Missense_Mutation_p.G22E|DEDD2_ENST00000336034.4_Missense_Mutation_p.G22E|DEDD2_ENST00000593804.1_Intron|DEDD2_ENST00000596251.1_Missense_Mutation_p.G22E	NM_001270614.1	NP_001257543.1	Q8WXF8	DEDD2_HUMAN	death effector domain containing 2	22					activation of pro-apoptotic gene products|apoptotic nuclear change|cellular homeostasis|induction of apoptosis via death domain receptors|intracellular signal transduction|negative regulation of transcription, DNA-dependent|RNA processing|rRNA catabolic process|transcription, DNA-dependent	nucleolus	DNA binding|receptor signaling complex scaffold activity			endometrium(1)|large_intestine(1)|ovary(1)|prostate(2)	5		Prostate(69;0.0704)				CGACAGCATCCCGTAGTAGTC	0.662													3	15					0	0	1	0	0	T	42721095	C	T	42721095	3	4	313	1	0	0	0	0	1	0	0	0	4408	623	22	2	931	2	DEDD2	19	42721095	Missense_Mutation	SNP	C	TCGA-HT-A5R7-01A-11D-A289-08		42721095	16407888	30	30045											
SIGLEC9	27180	broad.mit.edu	37	19	51628473	51628473	+	Missense_Mutation	SNP	G	G	A	rs151265101		TCGA-HT-A5R7-01A-11D-A289-08	TCGA-HT-A5R7-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5	45ec553b-1e7a-4b3c-86a1-c3f1547c1b43	g.chr19:51628473G>A	ENST00000440804.3	+	1	309	c.242G>A	c.(241-243)cGg>cAg	p.R81Q	SIGLEC9_ENST00000250360.3_Missense_Mutation_p.R81Q	NM_001198558.1	NP_001185487.1	Q9Y336	SIGL9_HUMAN	sialic acid binding Ig-like lectin 9	81	Ig-like V-type.				cell adhesion|cell surface receptor linked signaling pathway	integral to plasma membrane	sugar binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	45		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)		AACCCAGCTCGGGCAGTGTGG	0.572													26	67					0	0	1	0	0	A	51628473	G	A	51628473	3	1	313	1	0	0	0	0	1	0	0	0	14370	1116	39	1	244	1	SIGLEC9	19	51628473	Missense_Mutation	SNP	G	TCGA-HT-A5R7-01A-11D-A289-08	8907378	51628473	7500510	31	30046											
TMPRSS15	5651	broad.mit.edu	37	21	19647644	19647644	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-A5R7-01A-11D-A289-08	TCGA-HT-A5R7-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5	45ec553b-1e7a-4b3c-86a1-c3f1547c1b43	g.chr21:19647644G>T	ENST00000284885.3	-	24	2807	c.2774C>A	c.(2773-2775)gCa>gAa	p.A925E		NM_002772.2	NP_002763	P98073	ENTK_HUMAN	transmembrane protease, serine 15	925	Peptidase S1.				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						CAATATGTTTGCAGTAGTACC	0.398													6	59					0.000157383	0.000157383	1	1	0	T	19647644	G	T	19647644	3	4	313	1	0	0	0	0	1	0	0	0	16306	1319	46	5	293	5	TMPRSS15	21	19647644	Missense_Mutation	SNP	G	TCGA-HT-A5R7-01A-11D-A289-08		19647644	28482251	32	30047											
CACNA1I	8911	broad.mit.edu	37	22	40066233	40066233	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A5R7-01A-11D-A289-08	TCGA-HT-A5R7-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5	45ec553b-1e7a-4b3c-86a1-c3f1547c1b43	g.chr22:40066233G>A	ENST00000336649.4	+	28	4403	c.4403G>A	c.(4402-4404)cGg>cAg	p.R1468Q	CACNA1I_ENST00000407673.1_Missense_Mutation_p.R1427Q|CACNA1I_ENST00000400164.3_Missense_Mutation_p.R1427Q|CACNA1I_ENST00000404898.1_Missense_Mutation_p.R1427Q|CACNA1I_ENST00000402142.3_Missense_Mutation_p.R1462Q|CACNA1I_ENST00000401624.1_Missense_Mutation_p.R1462Q			Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	1462					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	AAGAAGCGCCGGAGTGAGTGG	0.667													4	62					0	0	1	0	0	A	40066233	G	A	40066233	3	1	313	1	0	0	0	0	1	0	0	0	2564	1116	39	1	4483	1	CACNA1I	22	40066233	Missense_Mutation	SNP	G	TCGA-HT-A5R7-01A-11D-A289-08		40066233	11238333	33	30048											
XG	7499	broad.mit.edu	37	X	2729413	2729413	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-A5R7-01A-11D-A289-08	TCGA-HT-A5R7-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5	45ec553b-1e7a-4b3c-86a1-c3f1547c1b43	g.chrX:2729413C>G	ENST00000426774.1	+	9	672	c.449C>G	c.(448-450)tCc>tGc	p.S150C	XG_ENST00000419513.2_Missense_Mutation_p.S164C|XG_ENST00000381174.5_Missense_Mutation_p.S149C	NM_001141920.1|NM_175569.2	NP_001135392.1|NP_780778.1	P55808	XG_HUMAN	Xg blood group	149						integral to membrane|plasma membrane				endometrium(1)|large_intestine(3)|lung(3)|ovary(1)	8		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				CCCATCGTATCCGTGGTGGTG	0.448													6	18					0	0	1	0	0	G	2729413	C	G	2729413	3	3	313	1	0	0	0	0	1	0	0	0	17487	855	30	5	532	5	XG	23	2729413	Missense_Mutation	SNP	C	TCGA-HT-A5R7-01A-11D-A289-08		2729413	152541147	34	30049											
FAM47B	170062	broad.mit.edu	37	X	34961355	34961355	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-A5R7-01A-11D-A289-08	TCGA-HT-A5R7-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5	45ec553b-1e7a-4b3c-86a1-c3f1547c1b43	g.chrX:34961355A>G	ENST00000329357.5	+	1	443	c.407A>G	c.(406-408)aAt>aGt	p.N136S		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	136										breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						ATGTACCCCAATCTGGGAAAA	0.567													8	77					0	0	1	0	0	G	34961355	A	G	34961355	3	3	313	1	0	0	0	0	1	0	0	0	5606	101	4	3	409	3	FAM47B	23	34961355	Missense_Mutation	SNP	A	TCGA-HT-A5R7-01A-11D-A289-08	32231942	34961355	120309205	35	30050											
ATRX	546	broad.mit.edu	37	X	76920179	76920180	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HT-A5R7-01A-11D-A289-08	TCGA-HT-A5R7-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5	45ec553b-1e7a-4b3c-86a1-c3f1547c1b43	g.chrX:76920179_76920180insC	ENST00000373344.5	-	11	4111_4112	c.3897_3898insG	c.(3895-3900)gggaaafs	p.K1300fs	ATRX_ENST00000395603.3_Frame_Shift_Ins_p.K1262fs|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1300					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)	GTTCTTTTTTTCCCTTCTTCTG	0.371			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						31	72	---	---	---	---						C	76920180	-	C	76920179	7	5	313	1	0	1	1	0	0	0	0	0	1206	1792	62	0	3680	0	ATRX	23	76920179	Frame_Shift_Ins	INS	-	TCGA-HT-A5R7-01A-11D-A289-08	41958824	76920179	78350381	36	30051											
ZNF280C	55609	broad.mit.edu	37	X	129354401	129354401	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-A5R7-01A-11D-A289-08	TCGA-HT-A5R7-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5	45ec553b-1e7a-4b3c-86a1-c3f1547c1b43	g.chrX:129354401C>G	ENST00000370978.4	-	13	1602	c.1449G>C	c.(1447-1449)aaG>aaC	p.K483N		NM_017666.4	NP_060136.1	Q8ND82	Z280C_HUMAN	zinc finger protein 280C	483					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(4)|large_intestine(9)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	26						CAGCTTTCTCCTTGCTGGTCA	0.383													5	108					0	0	1	0	0	G	129354401	C	G	129354401	3	3	313	1	0	0	0	0	1	0	0	0	17874	680	24	4	792	4	ZNF280C	23	129354401	Missense_Mutation	SNP	C	TCGA-HT-A5R7-01A-11D-A289-08	52434222	129354401	25916159	37	30052											
GPC4	2239	broad.mit.edu	37	X	132548972	132548972	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A5R7-01A-11D-A289-08	TCGA-HT-A5R7-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5	45ec553b-1e7a-4b3c-86a1-c3f1547c1b43	g.chrX:132548972C>T	ENST00000370828.3	-	1	546	c.22G>A	c.(22-24)Gcg>Acg	p.A8T		NM_001448.2	NP_001439.2	O75487	GPC4_HUMAN	glypican 4	8					anatomical structure morphogenesis|cell proliferation	anchored to membrane|external side of plasma membrane|extracellular space|insoluble fraction|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;0.000127)					CAGAGAAGCGCGGGCAAGCCG	0.687													5	56					0	0	1	0	0	T	132548972	C	T	132548972	3	4	313	1	0	0	0	0	1	0	0	0	6640	768	27	1	1684	1	GPC4	23	132548972	Missense_Mutation	SNP	C	TCGA-HT-A5R7-01A-11D-A289-08	3194571	132548972	22721588	38	30053											
PTPRF	5792	broad.mit.edu	37	1	44019524	44019524	+	Silent	SNP	G	G	A			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr1:44019524G>A	ENST00000359947.4	+	5	631	c.291G>A	c.(289-291)cgG>cgA	p.R97R	PTPRF_ENST00000372413.3_Silent_p.R97R|PTPRF_ENST00000372414.3_Silent_p.R97R|PTPRF_ENST00000438120.1_Silent_p.R97R	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	97	Ig-like C2-type 1.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				AGCCATTGCGGGTGCAGCGAG	0.542													3	39					0	0	1	0	0	A	44019524	G	A	44019524	2	1	314	1	0	0	0	0	0	0	0	1	12853	1219	43	2		2	PTPRF	1	44019524	Silent	SNP	G	TCGA-HT-A5R9-01A-11D-A289-08		44019524	205231097	1	30054											
OR6K2	81448	broad.mit.edu	37	1	158669721	158669721	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr1:158669721G>A	ENST00000359610.2	-	1	765	c.722C>T	c.(721-723)aCg>aTg	p.T241M		NM_001005279.1	NP_001005279.1	Q8NGY2	OR6K2_HUMAN	olfactory receptor, family 6, subfamily K, member 2	241					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	46	all_hematologic(112;0.0378)					AGAGACACACGTGGAAAATGC	0.463													40	46					0	0	1	0	0	A	158669721	G	A	158669721	3	1	314	1	0	0	0	0	1	0	0	0	11249	1145	40	1	256	1	OR6K2	1	158669721	Missense_Mutation	SNP	G	TCGA-HT-A5R9-01A-11D-A289-08	114650197	158669721	90580900	2	30055											
NOS1AP	9722	broad.mit.edu	37	1	162313698	162313698	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr1:162313698C>T	ENST00000361897.5	+	6	929	c.527C>T	c.(526-528)aCg>aTg	p.T176M	NOS1AP_ENST00000530878.1_Missense_Mutation_p.T171M	NM_001164757.1|NM_014697.2	NP_001158229.1|NP_055512.1	O75052	CAPON_HUMAN	nitric oxide synthase 1 (neuronal) adaptor protein	176	PID.				regulation of apoptosis|regulation of nitric oxide biosynthetic process|regulation of nitric-oxide synthase activity		nitric-oxide synthase binding|PDZ domain binding			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	32	all_hematologic(112;0.203)		BRCA - Breast invasive adenocarcinoma(70;0.0537)			CTGCAGCACACGCAGCAGAAT	0.582													49	73					0	0	1	0	0	T	162313698	C	T	162313698	3	4	314	1	0	0	0	0	1	0	0	0	10589	536	19	1	549	1	NOS1AP	1	162313698	Missense_Mutation	SNP	C	TCGA-HT-A5R9-01A-11D-A289-08	3643977	162313698	86936923	3	30056											
KDM5B	10765	broad.mit.edu	37	1	202705465	202705465	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr1:202705465C>T	ENST00000367265.3	-	21	4304	c.3140G>A	c.(3139-3141)cGa>cAa	p.R1047Q	KDM5B_ENST00000367264.2_Missense_Mutation_p.R1083Q	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B	1047					negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						GGGGATAGATCGGCCTCGTGT	0.428													10	63					0	0	1	0	0	T	202705465	C	T	202705465	3	4	314	1	0	0	0	0	1	0	0	0	8177	884	31	1	1522	1	KDM5B	1	202705465	Missense_Mutation	SNP	C	TCGA-HT-A5R9-01A-11D-A289-08	40391767	202705465	46545156	4	30057											
MAPKAPK2	9261	broad.mit.edu	37	1	206904037	206904037	+	Silent	SNP	A	A	C			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr1:206904037A>C	ENST00000367103.3	+	6	889	c.696A>C	c.(694-696)ccA>ccC	p.P232P	MAPKAPK2_ENST00000294981.4_Silent_p.P232P	NM_004759.4|NM_032960.3	NP_004750.1|NP_116584.2	P49137	MAPK2_HUMAN	mitogen-activated protein kinase-activated protein kinase 2	232	Protein kinase.				activation of MAPK activity|hormone biosynthetic process|innate immune response|leukotriene biosynthetic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|prostanoid metabolic process|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|signal transducer activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	19	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.211)			TTGCAGCTCCAGAAGTGCTGG	0.552													27	55					0	0	1	0	0	C	206904037	A	C	206904037	2	2	314	1	0	0	0	0	0	0	0	1	9339	175	7	5		5	MAPKAPK2	1	206904037	Silent	SNP	A	TCGA-HT-A5R9-01A-11D-A289-08	4198572	206904037	42346584	5	30058											
HTRA2	27429	broad.mit.edu	37	2	74757185	74757186	+	Frame_Shift_Ins	INS	-	-	G			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr2:74757185_74757186insG	ENST00000258080.3	+	1	682_683	c.52_53insG	c.(52-54)cggfs	p.R18fs	HTRA2_ENST00000467961.1_Intron|HTRA2_ENST00000352222.3_Frame_Shift_Ins_p.R18fs	NM_013247.4	NP_037379.1	O43464	HTRA2_HUMAN	HtrA serine peptidase 2	18					apoptosis|proteolysis|response to stress	CD40 receptor complex|endoplasmic reticulum membrane|internal side of plasma membrane|mitochondrial intermembrane space|mitochondrial membrane|nucleus	serine-type endopeptidase activity|unfolded protein binding			endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	12						TCGGGCATGGCGGGCTTTGGGG	0.718													17	141	---	---	---	---						G	74757186	-	G	74757185	7	5	314	1	0	1	1	0	0	0	0	0	7498	759	27	0	54	0	HTRA2	2	74757185	Frame_Shift_Ins	INS	-	TCGA-HT-A5R9-01A-11D-A289-08		74757185	168442188	6	30059											
REV1	51455	broad.mit.edu	37	2	100055074	100055076	+	In_Frame_Del	DEL	ACA	ACA	-			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr2:100055074_100055076delACA	ENST00000258428.3	-	6	1428_1430	c.1200_1202delTGT	c.(1198-1203)gttgta>gta	p.400_401VV>V	REV1_ENST00000465835.1_5'UTR|REV1_ENST00000393445.3_In_Frame_Del_p.400_401VV>V	NM_001037872.1|NM_016316.2	NP_001032961.1|NP_057400.1	Q9UBZ9	REV1_HUMAN	REV1, polymerase (DNA directed)	400					DNA replication|error-prone translesion synthesis|response to UV	nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|magnesium ion binding|protein binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(12)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TGTGTCAGTTACAACAAGTGCAG	0.335								Direct reversal of damage					26	48	---	---	---	---						-	100055076	ACA	-	100055074	7	5	314	1	0	1	0	1	0	0	0	0	13291	391	14	0	2625	0	REV1	2	100055074	In_Frame_Del	DEL	ACA	TCGA-HT-A5R9-01A-11D-A289-08	25297889	100055074	143144299	7	30060											
SMPD4	55627	broad.mit.edu	37	2	130930223	130930225	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr2:130930223_130930225delAAG	ENST00000409031.1	-	7	1745_1747	c.597_599delCTT	c.(595-600)ttcttt>ttt	p.199_200FF>F	SMPD4_ENST00000453750.1_Intron|SMPD4_ENST00000431183.2_In_Frame_Del_p.126_127FF>F|SMPD4_ENST00000443958.2_Intron|SMPD4_ENST00000351288.6_In_Frame_Del_p.199_200FF>F|SMPD4_ENST00000339679.7_In_Frame_Del_p.86_87FF>F|SMPD4_ENST00000473720.1_Intron|SMPD4_ENST00000426662.2_Intron|SMPD4_ENST00000452225.2_Intron	NM_017951.4	NP_060421.2	Q9NXE4	NSMA3_HUMAN	sphingomyelin phosphodiesterase 4, neutral membrane (neutral sphingomyelinase-3)	160					sphingomyelin catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|trans-Golgi network	metal ion binding|protein binding|sphingomyelin phosphodiesterase activity|sphingomyelin phosphodiesterase D activity			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(17)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29	Colorectal(110;0.1)				Phosphatidylserine(DB00144)	gctcaaggcaaagaagaatatgt	0.571													15	127	---	---	---	---						-	130930225	AAG	-	130930223	7	5	314	1	0	1	0	1	0	0	0	0	14861	14	1	0	2057	0	SMPD4	2	130930223	In_Frame_Del	DEL	AAG	TCGA-HT-A5R9-01A-11D-A289-08	30875149	130930223	112269150	8	30061											
DPP4	1803	broad.mit.edu	37	2	162851494	162851494	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr2:162851494C>T	ENST00000360534.3	-	25	2736	c.2176G>A	c.(2176-2178)Gtt>Att	p.V726I	DPP4_ENST00000491591.1_5'UTR	NM_001935.3	NP_001926.2	P27487	DPP4_HUMAN	dipeptidyl-peptidase 4	726					cell adhesion|endothelial cell migration|negative regulation of extracellular matrix disassembly|positive regulation of cell proliferation|proteolysis|regulation of cell-cell adhesion mediated by integrin|response to hypoxia|T cell activation|T cell costimulation	apical plasma membrane|cell surface|endocytic vesicle|extracellular region|integral to membrane|invadopodium membrane|lamellipodium membrane|membrane raft	aminopeptidase activity|dipeptidyl-peptidase activity|protease binding|protein homodimerization activity|receptor activity|receptor binding|serine-type endopeptidase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	48					Sitagliptin(DB01261)	TCCACTCCAACATCGACCAGG	0.453													4	69					0	0	1	0	0	T	162851494	C	T	162851494	3	4	314	1	0	0	0	0	1	0	0	0	4755	478	17	2	132	2	DPP4	2	162851494	Missense_Mutation	SNP	C	TCGA-HT-A5R9-01A-11D-A289-08	31921271	162851494	80347879	9	30062											
GIGYF2	26058	broad.mit.edu	37	2	233714984	233714984	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr2:233714984G>A	ENST00000373566.3	+	29	3960	c.3763G>A	c.(3763-3765)Ggg>Agg	p.G1255R	GIGYF2_ENST00000409480.1_Missense_Mutation_p.G1255R|GIGYF2_ENST00000373563.4_Missense_Mutation_p.G1233R|GIGYF2_ENST00000409451.3_Missense_Mutation_p.G1254R|GIGYF2_ENST00000409547.1_Missense_Mutation_p.G1233R|GIGYF2_ENST00000409196.3_Missense_Mutation_p.G1227R			Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	1233					cell death		protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		CTCTGTGTGGGGGATGAACCA	0.433													6	100					0	0	1	0	0	A	233714984	G	A	233714984	3	1	314	1	0	0	0	0	1	0	0	0	6420	1232	43	2	3869	2	GIGYF2	2	233714984	Missense_Mutation	SNP	G	TCGA-HT-A5R9-01A-11D-A289-08	70863490	233714984	9484389	10	30063											
GPR128	84873	broad.mit.edu	37	3	100373800	100373800	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr3:100373800G>A	ENST00000273352.3	+	12	1769	c.1501G>A	c.(1501-1503)Ggt>Agt	p.G501S	GPR128_ENST00000481506.1_3'UTR|GPR128_ENST00000475887.1_Missense_Mutation_p.G206S	NM_032787.2	NP_116176.2	Q96K78	GP128_HUMAN	G protein-coupled receptor 128	501					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						GACAAGTGATGGTGACATCAA	0.408													58	77					0	0	1	0	0	A	100373800	G	A	100373800	3	1	314	1	0	0	0	0	1	0	0	0	6681	1348	47	2	1547	2	GPR128	3	100373800	Missense_Mutation	SNP	G	TCGA-HT-A5R9-01A-11D-A289-08		100373800	97648630	11	30064											
GPR156	165829	broad.mit.edu	37	3	119885960	119885960	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr3:119885960delC	ENST00000464295.1	-	10	2809	c.2364delG	c.(2362-2364)gggfs	p.G788fs	GPR156_ENST00000461057.1_Frame_Shift_Del_p.G784fs|GPR156_ENST00000315843.3_Frame_Shift_Del_p.G788fs			Q8NFN8	GP156_HUMAN	G protein-coupled receptor 156	788						integral to membrane|plasma membrane	G-protein coupled receptor activity|GABA-B receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|prostate(1)|skin(1)	32				GBM - Glioblastoma multiforme(114;0.19)		AGGAAGCCAGCCCCCCAGTAG	0.552													9	466	---	---	---	---						-	119885960	C	-	119885960	7	5	314	1	0	1	0	1	0	0	0	0	6701	726	26	0	84	0	GPR156	3	119885960	Frame_Shift_Del	DEL	C	TCGA-HT-A5R9-01A-11D-A289-08	19512160	119885960	78136470	12	30065											
ACPP	55	broad.mit.edu	37	3	132086622	132086622	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr3:132086622C>T	ENST00000351273.7	+	11	1263	c.1213C>T	c.(1213-1215)Cgc>Tgc	p.R405C		NM_001134194.1	NP_001127666.1	P15309	PPAP_HUMAN	acid phosphatase, prostate	0						extracellular region|lysosomal membrane	5'-nucleotidase activity|acid phosphatase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(5)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	27						TATCCACATTCGCCGTGGACT	0.463													84	209					0	0	1	0	0	T	132086622	C	T	132086622	3	4	314	1	0	0	0	0	1	0	0	0	167	884	31	1	1278	1	ACPP	3	132086622	Missense_Mutation	SNP	C	TCGA-HT-A5R9-01A-11D-A289-08	12200662	132086622	65935808	13	30066											
RBPJ	3516	broad.mit.edu	37	4	26426014	26426017	+	Frame_Shift_Del	DEL	CAGA	CAGA	-			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr4:26426014_26426017delCAGA	ENST00000342320.4	+	6	720_723	c.544_547delCAGA	c.(544-549)cagacafs	p.QT182fs	RBPJ_ENST00000504907.1_Frame_Shift_Del_p.QT182fs|RBPJ_ENST00000348160.4_Frame_Shift_Del_p.QT183fs|RBPJ_ENST00000355476.3_Frame_Shift_Del_p.QT182fs|RBPJ_ENST00000361572.6_Frame_Shift_Del_p.QT196fs|RBPJ_ENST00000342295.1_Frame_Shift_Del_p.QT196fs|RBPJ_ENST00000507561.1_Frame_Shift_Del_p.QT161fs|RBPJ_ENST00000345843.3_Frame_Shift_Del_p.QT181fs			Q06330	SUH_HUMAN	recombination signal binding protein for immunoglobulin kappa J region	196					DNA recombination|negative regulation of transcription, DNA-dependent|positive regulation of transcription of Notch receptor target	cytoplasm|nucleolus|nucleoplasm	DNA binding|protein binding|recombinase activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)	15		Breast(46;0.0503)				ACTACGATCCCAGACAGTTAGTAC	0.422													41	31	---	---	---	---						-	26426017	CAGA	-	26426014	7	5	314	1	0	1	0	1	0	0	0	0	13213	595	21	0	671	0	RBPJ	4	26426014	Frame_Shift_Del	DEL	CAGA	TCGA-HT-A5R9-01A-11D-A289-08		26426014	164728262	14	30067											
DDX4	54514	broad.mit.edu	37	5	55075828	55075828	+	Missense_Mutation	SNP	C	C	T	rs137993034		TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr5:55075828C>T	ENST00000505374.1	+	8	523	c.431C>T	c.(430-432)cCa>cTa	p.P144L	DDX4_ENST00000354991.5_Intron|DDX4_ENST00000511853.1_Intron|DDX4_ENST00000514278.2_Missense_Mutation_p.P124L|DDX4_ENST00000353507.5_Intron	NM_024415.2	NP_077726.1	Q9NQI0	DDX4_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 4	144	Gly-rich.				multicellular organismal development|sperm motility	perinuclear region of cytoplasm|pi-body|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	24		Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223)				GCTTCAGGGCCATACAGAAGA	0.413													10	35					0	0	1	0	0	T	55075828	C	T	55075828	3	4	314	1	0	0	0	0	1	0	0	0	4383	594	21	2	498	2	DDX4	5	55075828	Missense_Mutation	SNP	C	TCGA-HT-A5R9-01A-11D-A289-08		55075828	125839432	15	30068											
HBEGF	1839	broad.mit.edu	37	5	139715486	139715489	+	Frame_Shift_Del	DEL	CAGA	CAGA	-			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr5:139715486_139715489delCAGA	ENST00000230990.6	-	4	824_827	c.522_525delTCTG	c.(520-525)tgtctgfs	p.CL174fs	HBEGF_ENST00000507104.1_Frame_Shift_Del_p.CL174fs	NM_001945.2	NP_001936.1	Q99075	HBEGF_HUMAN	heparin-binding EGF-like growth factor	174					epidermal growth factor receptor signaling pathway|muscle organ development|positive regulation of protein kinase B signaling cascade|positive regulation of wound healing	cell surface|extracellular space|integral to plasma membrane	epidermal growth factor receptor binding|eukaryotic cell surface binding|growth factor activity|heparin binding|receptor activity			breast(1)|kidney(1)|large_intestine(1)|lung(3)|stomach(1)	7			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGATGACCAGCAGACAGACAGATG	0.554													11	109	---	---	---	---						-	139715489	CAGA	-	139715486	7	5	314	1	0	1	0	1	0	0	0	0	7022	697	25	0	109	0	HBEGF	5	139715486	Frame_Shift_Del	DEL	CAGA	TCGA-HT-A5R9-01A-11D-A289-08	84639658	139715486	41199774	16	30069											
PCDHGA7	56108	broad.mit.edu	37	5	140763850	140763850	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr5:140763850G>A	ENST00000518325.1	+	1	1384	c.1384G>A	c.(1384-1386)Gct>Act	p.A462T	PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA5_ENST00000518069.1_Intron	NM_018920.2	NP_061743.1														NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGTCTACATCGCTGAGAACAA	0.522													4	60					0	0	1	0	0	A	140763850	G	A	140763850	3	1	314	1	0	0	0	0	1	0	0	0	11606	1087	38	1	1386	1	PCDHGA7	5	140763850	Missense_Mutation	SNP	G	TCGA-HT-A5R9-01A-11D-A289-08	1048364	140763850	40151410	17	30070											
PTPRK	5796	broad.mit.edu	37	6	128294828	128294828	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr6:128294828G>A	ENST00000368227.3	-	29	4531	c.4165C>T	c.(4165-4167)Cgg>Tgg	p.R1389W	PTPRK_ENST00000532331.1_Missense_Mutation_p.R1394W|PTPRK_ENST00000368207.3_Missense_Mutation_p.R1404W|PTPRK_ENST00000368210.3_Missense_Mutation_p.R1390W|PTPRK_ENST00000368215.3_Missense_Mutation_p.R1371W|PTPRK_ENST00000368226.4_Missense_Mutation_p.R1372W|PTPRK_ENST00000368213.5_Missense_Mutation_p.R1378W			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	1371	Tyrosine-protein phosphatase 2.				cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		ATAATCGTCCGGCCTTCCCCT	0.483													5	107					0	0	1	0	0	A	128294828	G	A	128294828	3	1	314	1	0	0	0	0	1	0	0	0	12857	1115	39	1	220	1	PTPRK	6	128294828	Missense_Mutation	SNP	G	TCGA-HT-A5R9-01A-11D-A289-08		128294828	42820239	18	30071											
NPY	4852	broad.mit.edu	37	7	24324984	24324984	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr7:24324984C>T	ENST00000407573.1	+	3	415	c.125C>T	c.(124-126)gCg>gTg	p.A42V	NPY_ENST00000405982.1_Missense_Mutation_p.A42V|NPY_ENST00000242152.2_Missense_Mutation_p.A42V			P01303	NPY_HUMAN	neuropeptide Y	42					adult feeding behavior|calcium ion transport|cell proliferation|cellular component movement|central nervous system neuron development|cerebral cortex development|digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|neuron projection development|neuropeptide signaling pathway|positive regulation of appetite|synaptic transmission	cell|extracellular space	calcium channel regulator activity|G-protein coupled receptor activity|neuropeptide hormone activity	p.A42V(1)		breast(1)|kidney(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	9						GACGCACCAGCGGAGGACATG	0.682													7	93					0	0	1	0	0	T	24324984	C	T	24324984	3	4	314	1	0	0	0	0	1	0	0	0	10655	768	27	1	127	1	NPY	7	24324984	Missense_Mutation	SNP	C	TCGA-HT-A5R9-01A-11D-A289-08		24324984	134813679	19	30072											
AUTS2	26053	broad.mit.edu	37	7	70229866	70229866	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr7:70229866T>C	ENST00000342771.4	+	8	1664	c.1343T>C	c.(1342-1344)cTc>cCc	p.L448P	AUTS2_ENST00000406775.2_Missense_Mutation_p.L448P	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	448										breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		acacccaccctccagcccccc	0.652													5	43					0	0	1	0	0	C	70229866	T	C	70229866	3	2	314	1	0	0	0	0	1	0	0	0	1223	1551	54	3	1518	3	AUTS2	7	70229866	Missense_Mutation	SNP	T	TCGA-HT-A5R9-01A-11D-A289-08	45904882	70229866	88908797	20	30073											
BAG4	9530	broad.mit.edu	37	8	38065246	38065246	+	Missense_Mutation	SNP	C	C	G	rs150045830	byFrequency	TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr8:38065246C>G	ENST00000287322.4	+	3	866	c.595C>G	c.(595-597)Cct>Gct	p.P199A	BAG4_ENST00000521282.1_3'UTR|BAG4_ENST00000432471.2_Missense_Mutation_p.P163A	NM_004874.3	NP_004865.1	O95429	BAG4_HUMAN	BCL2-associated athanogene 4	199					anti-apoptosis|apoptosis|protein folding	cytoplasm|nucleus	receptor signaling protein activity			breast(1)|kidney(2)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|urinary_tract(1)	11	Colorectal(12;0.000442)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.121)				TGAAGCACCCCCTCTTAGGGG	0.488													25	35					0	0	1	0	0	G	38065246	C	G	38065246	3	3	314	1	0	0	0	0	1	0	0	0	1287	623	22	5	605	5	BAG4	8	38065246	Missense_Mutation	SNP	C	TCGA-HT-A5R9-01A-11D-A289-08		38065246	108298776	21	30074											
LYPLA1	10434	broad.mit.edu	37	8	54963679	54963679	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr8:54963679G>A	ENST00000316963.3	-	8	725	c.532C>T	c.(532-534)Ccc>Tcc	p.P178S	LYPLA1_ENST00000343231.6_Missense_Mutation_p.P162S|LYPLA1_ENST00000522007.1_Silent_p.F57F	NM_001279360.1|NM_006330.2	NP_001266289.1|NP_006321.1	O75608	LYPA1_HUMAN	lysophospholipase I	178					fatty acid metabolic process|nitric oxide metabolic process|regulation of nitric-oxide synthase activity	cytosol	lysophospholipase activity|palmitoyl-(protein) hydrolase activity			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)	6		Lung NSC(129;0.109)|all_epithelial(80;0.11)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;8.48e-07)|Epithelial(17;9.29e-05)|all cancers(17;0.000689)			AACATCAGGGGAACCAAAGGG	0.413													5	88					0	0	1	0	0	A	54963679	G	A	54963679	3	1	314	1	0	0	0	0	1	0	0	0	9162	1174	41	2	168	2	LYPLA1	8	54963679	Missense_Mutation	SNP	G	TCGA-HT-A5R9-01A-11D-A289-08	16898433	54963679	91400343	22	30075											
HDHD3	81932	broad.mit.edu	37	9	116136465	116136465	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr9:116136465C>T	ENST00000238379.5	-	2	1067	c.170G>A	c.(169-171)aGc>aAc	p.S57N	HDHD3_ENST00000374180.3_Missense_Mutation_p.S57N|HDHD3_ENST00000485934.1_5'UTR	NM_031219.2	NP_112496.1	Q9BSH5	HDHD3_HUMAN	haloacid dehalogenase-like hydrolase domain containing 3	57							phosphoglycolate phosphatase activity|protein binding			large_intestine(2)|liver(1)	3						GAAGCTGTGGCTCTGAGCCCT	0.657													26	37					0	0	1	0	0	T	116136465	C	T	116136465	3	4	314	1	0	0	0	0	1	0	0	0	7065	797	28	2	589	2	HDHD3	9	116136465	Missense_Mutation	SNP	C	TCGA-HT-A5R9-01A-11D-A289-08		116136465	25076966	23	30076											
TCF7L2	6934	broad.mit.edu	37	10	114911515	114911517	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr10:114911515_114911517delAAG	ENST00000355995.4	+	10	1540_1542	c.1033_1035delAAG	c.(1033-1035)aagdel	p.K347del	TCF7L2_ENST00000369397.4_In_Frame_Del_p.K324del|TCF7L2_ENST00000369389.1_In_Frame_Del_p.K58del|TCF7L2_ENST00000369386.1_5'UTR|TCF7L2_ENST00000534894.1_In_Frame_Del_p.K347del|TCF7L2_ENST00000352065.5_In_Frame_Del_p.K324del|TCF7L2_ENST00000545257.1_In_Frame_Del_p.K347del|TCF7L2_ENST00000538897.1_In_Frame_Del_p.K347del|TCF7L2_ENST00000536810.1_In_Frame_Del_p.K347del|TCF7L2_ENST00000355717.4_In_Frame_Del_p.K371del|TCF7L2_ENST00000542695.1_In_Frame_Del_p.K63del|TCF7L2_ENST00000543371.1_In_Frame_Del_p.K347del			Q9NQB0	TF7L2_HUMAN	transcription factor 7-like 2 (T-cell specific, HMG-box)	347	Mediates interaction with MAD2L2.				anti-apoptosis|blood vessel development|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell cycle arrest|cell proliferation|fat cell differentiation|glucose homeostasis|maintenance of DNA repeat elements|myoblast cell fate commitment|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|pancreas development|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of insulin secretion|positive regulation of protein binding|positive regulation of protein export from nucleus|positive regulation of protein kinase B signaling cascade|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone metabolic process|regulation of smooth muscle cell proliferation|response to glucose stimulus	beta-catenin-TCF7L2 complex|PML body|protein-DNA complex	armadillo repeat domain binding|beta-catenin binding|gamma-catenin binding|nuclear hormone receptor binding|protein kinase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding		VTI1A/TCF7L2(8)	central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(24)|liver(2)|lung(8)|ovary(1)|skin(1)	41		Breast(234;0.058)|Colorectal(252;0.0615)		Epithelial(162;0.00554)|all cancers(201;0.02)		GGAAGAAGAAAAGAAGAAGCCCC	0.443			T	VTI1A	colorectal								19	56	---	---	---	---						-	114911517	AAG	-	114911515	7	5	314	1	0	1	0	1	0	0	0	0	15758	15	1	0	1216	0	TCF7L2	10	114911515	In_Frame_Del	DEL	AAG	TCGA-HT-A5R9-01A-11D-A289-08		114911515	20623232	24	30077											
TMEM216	51259	broad.mit.edu	37	11	61161357	61161357	+	Splice_Site	SNP	T	T	G			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr11:61161357T>G	ENST00000515837.2	+	3	1083	c.138T>G	c.(136-138)ggT>ggG	p.G46G	TMEM216_ENST00000398979.3_5'UTR|TMEM216_ENST00000334888.5_Splice_Site_p.G46G			Q9P0N5	TM216_HUMAN	transmembrane protein 216	39						integral to membrane		p.G46G(3)		endometrium(1)|large_intestine(2)|lung(1)|prostate(2)	6						TATTGGCAGGTGTCCTGCTAC	0.438													16	35					0	0	1	0	0	G	61161357	T	G	61161357	5	3	314	1	0	0	0	0	0	0	1	0	16199	1710	59	5	148	5	TMEM216	11	61161357	Splice_Site	SNP	T	TCGA-HT-A5R9-01A-11D-A289-08		61161357	73845159	25	30078											
NUMA1	4926	broad.mit.edu	37	11	71733448	71733448	+	Missense_Mutation	SNP	T	T	G			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr11:71733448T>G	ENST00000393695.3	-	7	640	c.309A>C	c.(307-309)ttA>ttC	p.L103F	NUMA1_ENST00000358965.6_Missense_Mutation_p.L103F|NUMA1_ENST00000351960.6_Missense_Mutation_p.L103F	NM_006185.2	NP_006176.2	Q14980	NUMA1_HUMAN	nuclear mitotic apparatus protein 1	103					G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						TAGAGTGGTATAAGAGCAGCA	0.522			T	RARA	APL								6	189					0	0	1	0	0	G	71733448	T	G	71733448	3	3	314	1	0	0	0	0	1	0	0	0	10798	1403	49	4	6122	4	NUMA1	11	71733448	Missense_Mutation	SNP	T	TCGA-HT-A5R9-01A-11D-A289-08	10572091	71733448	63273068	26	30079											
SERPINH1	871	broad.mit.edu	37	11	75277978	75277978	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr11:75277978C>T	ENST00000524558.1	+	2	2019	c.584C>T	c.(583-585)aCg>aTg	p.T195M	SERPINH1_ENST00000358171.3_Missense_Mutation_p.T195M|SERPINH1_ENST00000530284.1_Missense_Mutation_p.T195M|SERPINH1_ENST00000533603.1_Missense_Mutation_p.T195M			P50454	SERPH_HUMAN	serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1)	195					regulation of proteolysis|response to unfolded protein	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	collagen binding|serine-type endopeptidase inhibitor activity			endometrium(4)|large_intestine(3)|liver(1)|lung(4)|ovary(2)|stomach(1)	15	Ovarian(111;0.11)					GTGGAGCGCACGGACGGCGCC	0.662													28	85					0	0	1	0	0	T	75277978	C	T	75277978	3	4	314	1	0	0	0	0	1	0	0	0	14171	536	19	1	586	1	SERPINH1	11	75277978	Missense_Mutation	SNP	C	TCGA-HT-A5R9-01A-11D-A289-08	3544530	75277978	59728538	27	30080											
NFRKB	4798	broad.mit.edu	37	11	129758574	129758574	+	Missense_Mutation	SNP	C	C	A			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr11:129758574C>A	ENST00000446488.3	-	3	355	c.252G>T	c.(250-252)caG>caT	p.Q84H	NFRKB_ENST00000526940.1_Missense_Mutation_p.Q84H|NFRKB_ENST00000304521.5_Missense_Mutation_p.Q84H|NFRKB_ENST00000524746.1_Missense_Mutation_p.Q84H|NFRKB_ENST00000524794.1_Missense_Mutation_p.Q97H	NM_001143835.1	NP_001137307.1	Q6P4R8	NFRKB_HUMAN	nuclear factor related to kappaB binding protein	84					DNA recombination|DNA repair|inflammatory response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Ino80 complex	DNA binding|protease binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(13)|ovary(4)|skin(3)|urinary_tract(1)	32	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184)		GTTCATTCTGCTGCTCAGCAC	0.488													4	79					0.150653	0.150653	1	1	0	A	129758574	C	A	129758574	3	1	314	1	0	0	0	0	1	0	0	0	10431	796	28	4	3779	4	NFRKB	11	129758574	Missense_Mutation	SNP	C	TCGA-HT-A5R9-01A-11D-A289-08	54480596	129758574	5247942	28	30081											
ACSM4	341392	broad.mit.edu	37	12	7457055	7457055	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr12:7457055G>A	ENST00000399422.4	+	1	176	c.128G>A	c.(127-129)cGc>cAc	p.R43H		NM_001080454.1	NP_001073923.1	P0C7M7	ACSM4_HUMAN	acyl-CoA synthetase medium-chain family member 4	43					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			endometrium(6)|kidney(1)|lung(14)	21						GCCATAAATCGCTGTAACAGG	0.483													5	149					0	0	1	0	0	A	7457055	G	A	7457055	3	1	314	1	0	0	0	0	1	0	0	0	186	1087	38	1	130	1	ACSM4	12	7457055	Missense_Mutation	SNP	G	TCGA-HT-A5R9-01A-11D-A289-08		7457055	126394840	29	30082											
IPO4	79711	broad.mit.edu	37	14	24651580	24651580	+	Silent	SNP	G	G	A			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr14:24651580G>A	ENST00000354464.6	-	25	2678	c.2502C>T	c.(2500-2502)caC>caT	p.H834H	RP11-468E2.2_ENST00000561419.1_3'UTR	NM_024658.3	NP_078934.3	Q8TEX9	IPO4_HUMAN	importin 4	834					intracellular protein transport	cytoplasm|nucleus	protein binding|protein transporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|stomach(2)|urinary_tract(1)	33				GBM - Glioblastoma multiforme(265;0.0087)		CCTCTCCAGCGTGCTCCAGCA	0.622													17	27					0	0	1	0	0	A	24651580	G	A	24651580	2	1	314	1	0	0	0	0	0	0	0	1	7839	1136	40	1		1	IPO4	14	24651580	Silent	SNP	G	TCGA-HT-A5R9-01A-11D-A289-08		24651580	82697960	30	30083											
GZMB	3002	broad.mit.edu	37	14	25102230	25102230	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr14:25102230G>A	ENST00000216341.4	-	2	200	c.94C>T	c.(94-96)Cgc>Tgc	p.R32C	GZMB_ENST00000382542.1_Missense_Mutation_p.R66C|RP11-104E19.1_ENST00000555300.1_RNA|GZMB_ENST00000526004.1_Missense_Mutation_p.R32C|GZMB_ENST00000415355.3_Missense_Mutation_p.R20C|RP11-104E19.1_ENST00000557736.1_RNA|GZMB_ENST00000382540.1_Missense_Mutation_p.R32C			P10144	GRAB_HUMAN	granzyme B (granzyme 2, cytotoxic T-lymphocyte-associated serine esterase 1)	32	Peptidase S1.			RP -> PR (in Ref. 12; AA sequence).	activation of pro-apoptotic gene products|cleavage of lamin|cytolysis|induction of apoptosis by intracellular signals	cytosol|immunological synapse|nucleus	protein binding|serine-type endopeptidase activity			endometrium(2)|large_intestine(1)|lung(4)|stomach(4)|urinary_tract(2)	13				GBM - Glioblastoma multiforme(265;0.028)		ATGTAGGGGCGGGAGTGGGGC	0.562													6	200					0	0	1	0	0	A	25102230	G	A	25102230	3	1	314	1	0	0	0	0	1	0	0	0	6957	1116	39	1	665	1	GZMB	14	25102230	Missense_Mutation	SNP	G	TCGA-HT-A5R9-01A-11D-A289-08	450650	25102230	82247310	31	30084											
FKBP3	2287	broad.mit.edu	37	14	45590142	45590144	+	In_Frame_Del	DEL	TTC	TTC	-			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr14:45590142_45590144delTTC	ENST00000216330.3	-	6	878_880	c.468_470delGAA	c.(466-471)aagaaa>aaa	p.156_157KK>K	FKBP3_ENST00000396062.3_In_Frame_Del_p.156_157KK>K			Q00688	FKBP3_HUMAN	FK506 binding protein 3, 25kDa	156	PPIase FKBP-type.				protein folding	membrane|nucleus	FK506 binding|peptidyl-prolyl cis-trans isomerase activity|receptor activity			NS(1)|biliary_tract(1)|endometrium(1)|large_intestine(2)|lung(6)|skin(1)	12						CTTGGCATTTTTCTTCTTCTTTG	0.32													23	57	---	---	---	---						-	45590144	TTC	-	45590142	7	5	314	1	0	1	0	1	0	0	0	0	5942	1841	64	0	216	0	FKBP3	14	45590142	In_Frame_Del	DEL	TTC	TCGA-HT-A5R9-01A-11D-A289-08	20487912	45590142	61759398	32	30085											
BCL11B	64919	broad.mit.edu	37	14	99641424	99641424	+	Silent	SNP	C	C	T			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr14:99641424C>T	ENST00000345514.2	-	3	1802	c.1536G>A	c.(1534-1536)gcG>gcA	p.A512A	BCL11B_ENST00000357195.3_Silent_p.A583A|BCL11B_ENST00000443726.2_Silent_p.A389A	NM_001282238.1|NM_022898.1	NP_001269167.1|NP_075049.1	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B (zinc finger protein)	583						nucleus	zinc ion binding			NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		GCGCCTTggccgcgccgcccc	0.731			T	TLX3	T-ALL								25	26					0	0	1	0	0	T	99641424	C	T	99641424	2	4	314	1	0	0	0	0	0	0	0	1	1362	639	23	1		1	BCL11B	14	99641424	Silent	SNP	C	TCGA-HT-A5R9-01A-11D-A289-08	54051282	99641424	7708116	33	30086											
PML	5371	broad.mit.edu	37	15	74290533	74290533	+	Silent	SNP	C	C	T			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr15:74290533C>T	ENST00000565898.1	+	2	402	c.318C>T	c.(316-318)aaC>aaT	p.N106N	PML_ENST00000567543.1_Silent_p.N106N|PML_ENST00000569965.1_Silent_p.N106N|PML_ENST00000395132.2_Silent_p.N106N|PML_ENST00000563500.1_Silent_p.N106N|PML_ENST00000359928.4_Silent_p.N106N|PML_ENST00000564428.1_Silent_p.N106N|PML_ENST00000435786.2_Silent_p.N106N|PML_ENST00000395135.3_Silent_p.N106N|PML_ENST00000268059.6_Silent_p.N106N|PML_ENST00000268058.3_Silent_p.N106N|PML_ENST00000569477.1_Silent_p.N106N|PML_ENST00000354026.6_Silent_p.N106N|PML_ENST00000436891.3_Silent_p.N106N			P29590	PML_HUMAN	promyelocytic leukemia	106					cell cycle arrest|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 resulting in induction of apoptosis|endoplasmic reticulum calcium ion homeostasis|induction of apoptosis|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|maintenance of protein location in nucleus|negative regulation of angiogenesis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of mitotic cell cycle|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|negative regulation of telomerase activity|negative regulation of telomere maintenance via telomerase|negative regulation of transcription, DNA-dependent|negative regulation of translation in response to oxidative stress|PML body organization|positive regulation of defense response to virus by host|positive regulation of histone deacetylation|protein complex assembly|protein stabilization|protein targeting|regulation of calcium ion transport into cytosol|regulation of protein phosphorylation|response to hypoxia|response to virus|transcription, DNA-dependent	cytoplasm|cytosol|early endosome membrane|extrinsic to endoplasmic reticulum membrane|insoluble fraction|nuclear matrix|nuclear membrane|nucleolus|nucleus|PML body	cobalt ion binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|SUMO binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	31						CCCTGGATAACGTCTTTTTCG	0.642			T	"RARA, PAX5"	"APL, ALL"								5	77					0	0	1	0	0	T	74290533	C	T	74290533	2	4	314	1	0	0	0	0	0	0	0	1	12183	535	19	1		1	PML	15	74290533	Silent	SNP	C	TCGA-HT-A5R9-01A-11D-A289-08		74290533	28240859	34	30087											
IDH2	3418	broad.mit.edu	37	15	90631839	90631839	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr15:90631839T>C	ENST00000330062.3	-	4	627	c.514A>G	c.(514-516)Agg>Ggg	p.R172G	IDH2_ENST00000540499.2_Missense_Mutation_p.R120G|IDH2_ENST00000559482.1_Intron|IDH2_ENST00000539790.1_Missense_Mutation_p.R42G	NM_002168.2	NP_002159.2	P48735	IDHP_HUMAN	isocitrate dehydrogenase 2 (NADP+), mitochondrial	172					2-oxoglutarate metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding	p.R172W(12)|p.R172G(2)		biliary_tract(11)|bone(19)|central_nervous_system(107)|endometrium(1)|haematopoietic_and_lymphoid_tissue(953)|large_intestine(8)|lung(5)|skin(5)	1109	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.106)			TGGGCGTGCCTGCCAATGGTG	0.627			M		GBM								37	56					0	0	1	0	0	C	90631839	T	C	90631839	3	2	314	1	0	0	0	0	1	0	0	0	7539	1579	55	3	876	3	IDH2	15	90631839	Missense_Mutation	SNP	T	TCGA-HT-A5R9-01A-11D-A289-08	16341306	90631839	11899553	35	30088											
CIB1	10519	broad.mit.edu	37	15	90775542	90775542	+	Missense_Mutation	SNP	C	C	A			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr15:90775542C>A	ENST00000328649.6	-	3	265	c.104G>T	c.(103-105)tGt>tTt	p.C35F		NM_006384.3	NP_006375.2	Q99828	CIB1_HUMAN	calcium and integrin binding 1 (calmyrin)	35					apoptosis|cell adhesion|double-strand break repair	apical plasma membrane|endoplasmic reticulum|filopodium|nucleoplasm	calcium ion binding|protein binding			lung(1)|prostate(1)	2	Melanoma(11;0.00551)|Lung NSC(78;0.0141)|all_lung(78;0.0303)		BRCA - Breast invasive adenocarcinoma(143;0.00269)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.217)			AAGCAGCTCACAAAACCGCCT	0.587													7	39					9.80977e-26	1.07253e-25	1	1	0	A	90775542	C	A	90775542	3	1	314	1	0	0	0	0	1	0	0	0	3442	478	17	5	491	5	CIB1	15	90775542	Missense_Mutation	SNP	C	TCGA-HT-A5R9-01A-11D-A289-08	143703	90775542	11755850	36	30089											
MYO15A	51168	broad.mit.edu	37	17	18053797	18053797	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr17:18053797G>A	ENST00000205890.5	+	36	7605	c.7267G>A	c.(7267-7269)Ggt>Agt	p.G2423S		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	2423	Tail.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					AGGCCAGCCCGGTGGAGGCAG	0.617													33	64					0	0	1	0	0	A	18053797	G	A	18053797	3	1	314	1	0	0	0	0	1	0	0	0	10111	1116	39	1	7401	1	MYO15A	17	18053797	Missense_Mutation	SNP	G	TCGA-HT-A5R9-01A-11D-A289-08		18053797	63141413	37	30090											
LGALS9C	654346	broad.mit.edu	37	17	18387258	18387258	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr17:18387258G>A	ENST00000328114.6	+	2	190	c.109G>A	c.(109-111)Gtt>Att	p.V37I	LGALS9C_ENST00000584941.1_Missense_Mutation_p.V37I|LGALS9C_ENST00000578983.1_3'UTR|LGALS9C_ENST00000581545.1_Missense_Mutation_p.V37I|LGALS9C_ENST00000412421.2_Intron|LGALS9C_ENST00000583322.1_Missense_Mutation_p.V37I	NM_001040078.2	NP_001035167.2	Q6DKI2	LEG9C_HUMAN	lectin, galactoside-binding, soluble, 9C	37	Galectin 1.						sugar binding			NS(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(2)	7						CAATGGGGCCGTTCTCAGCTG	0.562													7	90					0	0	1	0	0	A	18387258	G	A	18387258	3	1	314	1	0	0	0	0	1	0	0	0	8790	1145	40	1	115	1	LGALS9C	17	18387258	Missense_Mutation	SNP	G	TCGA-HT-A5R9-01A-11D-A289-08	333461	18387258	62807952	38	30091											
KSR1	8844	broad.mit.edu	37	17	25783753	25783753	+	Silent	SNP	A	A	T			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr17:25783753A>T	ENST00000319524.6	+	1	84	c.84A>T	c.(82-84)ggA>ggT	p.G28G	KSR1_ENST00000509603.2_Silent_p.G28G			Q8IVT5	KSR1_HUMAN	kinase suppressor of ras 1	26					Ras protein signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	28	Lung NSC(42;0.00836)		BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		CCGCGGAGGGAGGCGCAGGGG	0.741													3	30					0	0	1	0	0	T	25783753	A	T	25783753	2	4	314	1	0	0	0	0	0	0	0	1	8620	319	11	5		5	KSR1	17	25783753	Silent	SNP	A	TCGA-HT-A5R9-01A-11D-A289-08	7396495	25783753	55411457	39	30092											
KCNH4	23415	broad.mit.edu	37	17	40322247	40322247	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr17:40322247C>T	ENST00000264661.3	-	8	1600	c.1268G>A	c.(1267-1269)cGc>cAc	p.R423H	KCNH4_ENST00000607371.1_Missense_Mutation_p.R423H	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 4	423					regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	two-component sensor activity|voltage-gated potassium channel activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		GTAGGCGCTGCGCCGTGATGG	0.622													20	35					0	0	1	0	0	T	40322247	C	T	40322247	3	4	314	1	0	0	0	0	1	0	0	0	8078	768	27	1	1821	1	KCNH4	17	40322247	Missense_Mutation	SNP	C	TCGA-HT-A5R9-01A-11D-A289-08	14538494	40322247	40872963	40	30093											
SP6	80320	broad.mit.edu	37	17	45925200	45925200	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr17:45925200G>A	ENST00000536300.1	-	2	927	c.596C>T	c.(595-597)tCt>tTt	p.S199F	SP6_ENST00000342234.2_Missense_Mutation_p.S199F	NM_001258248.1	NP_001245177.1	Q3SY56	SP6_HUMAN	Sp6 transcription factor	199					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|lung(5)|prostate(1)|skin(1)	8						CAGCCCTTGAGACTCCGGGGC	0.716													11	15					0	0	1	0	0	A	45925200	G	A	45925200	3	1	314	1	0	0	0	0	1	0	0	0	15022	942	33	2	538	2	SP6	17	45925200	Missense_Mutation	SNP	G	TCGA-HT-A5R9-01A-11D-A289-08	5602953	45925200	35270010	41	30094											
TRIM37	4591	broad.mit.edu	37	17	57153020	57153020	+	Missense_Mutation	SNP	C	C	A			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr17:57153020C>A	ENST00000376149.3	-	8	1115	c.306G>T	c.(304-306)gaG>gaT	p.E102D	TRIM37_ENST00000262294.7_Missense_Mutation_p.E224D|TRIM37_ENST00000393066.3_Missense_Mutation_p.E224D|TRIM37_ENST00000393065.2_Missense_Mutation_p.E190D			O94972	TRI37_HUMAN	tripartite motif containing 37	224						perinuclear region of cytoplasm|peroxisome	ligase activity|protein binding|zinc ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(13)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					GGTGCTCCACCTCCTGAAGTA	0.323									Mulibrey Nanism				3	39					0.00909568	0.00932307	1	1	0	A	57153020	C	A	57153020	3	1	314	1	0	0	0	0	1	0	0	0	16572	680	24	4	2298	4	TRIM37	17	57153020	Missense_Mutation	SNP	C	TCGA-HT-A5R9-01A-11D-A289-08	11227820	57153020	24042190	42	30095											
MYO5B	4645	broad.mit.edu	37	18	47566657	47566657	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr18:47566657G>A	ENST00000285039.7	-	3	465	c.166C>T	c.(166-168)Cgc>Tgc	p.R56C		NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	56	Myosin head-like.				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		AGCTGGTTGCGTTGTACATCA	0.423													121	225					0	0	1	0	0	A	47566657	G	A	47566657	3	1	314	1	0	0	0	0	1	0	0	0	10127	1145	40	1	5532	1	MYO5B	18	47566657	Missense_Mutation	SNP	G	TCGA-HT-A5R9-01A-11D-A289-08		47566657	30510591	43	30096											
SOCS6	9306	broad.mit.edu	37	18	67993430	67993430	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr18:67993430G>A	ENST00000397942.3	+	2	1842	c.1526G>A	c.(1525-1527)cGt>cAt	p.R509H	SOCS6_ENST00000582322.1_Missense_Mutation_p.R509H	NM_004232.3	NP_004223.2	O14544	SOCS6_HUMAN	suppressor of cytokine signaling 6	509	SOCS box.				defense response|JAK-STAT cascade|negative regulation of signal transduction|regulation of growth	cytoplasm				NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)	22		Esophageal squamous(42;0.129)|Colorectal(73;0.152)				TTTGTTATACGTCAGTATACC	0.468													34	51					0	0	1	0	0	A	67993430	G	A	67993430	3	1	314	1	0	0	0	0	1	0	0	0	14972	1145	40	1	1528	1	SOCS6	18	67993430	Missense_Mutation	SNP	G	TCGA-HT-A5R9-01A-11D-A289-08	20426773	67993430	10083818	44	30097											
TRMT1	55621	broad.mit.edu	37	19	13220750	13220750	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr19:13220750G>A	ENST00000592062.1	-	10	1655	c.1085C>T	c.(1084-1086)gCg>gTg	p.A362V	TRMT1_ENST00000221504.8_Intron|TRMT1_ENST00000437766.1_Missense_Mutation_p.A362V|TRMT1_ENST00000357720.4_Missense_Mutation_p.A362V			Q9NXH9	TRM1_HUMAN	tRNA methyltransferase 1 homolog (S. cerevisiae)	362							RNA binding|tRNA (guanine-N2-)-methyltransferase activity|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(19;6.08e-22)	GBM - Glioblastoma multiforme(1328;0.0356)		GACTCCTGACGCTTTGCCGAG	0.652													10	171					0	0	1	0	0	A	13220750	G	A	13220750	3	1	314	1	0	0	0	0	1	0	0	0	16622	1087	38	1	930	1	TRMT1	19	13220750	Missense_Mutation	SNP	G	TCGA-HT-A5R9-01A-11D-A289-08		13220750	45908233	45	30098											
NOTCH3	4854	broad.mit.edu	37	19	15271838	15271838	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr19:15271838G>A	ENST00000263388.2	-	33	6676	c.6601C>T	c.(6601-6603)Ccc>Tcc	p.P2201S		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	2201					Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			GGGGAGACGGGGGTCCCTGGG	0.741													7	6					0	0	1	0	0	A	15271838	G	A	15271838	3	1	314	1	0	0	0	0	1	0	0	0	10597	1232	43	2	368	2	NOTCH3	19	15271838	Missense_Mutation	SNP	G	TCGA-HT-A5R9-01A-11D-A289-08	2051088	15271838	43857145	46	30099											
NWD1	284434	broad.mit.edu	37	19	16860910	16860910	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr19:16860910C>T	ENST00000524140.2	+	6	1875	c.1457C>T	c.(1456-1458)cCg>cTg	p.P486L	NWD1_ENST00000552788.1_Missense_Mutation_p.P486L|NWD1_ENST00000549814.1_Missense_Mutation_p.P486L|NWD1_ENST00000523826.1_Missense_Mutation_p.P280L|NWD1_ENST00000339803.6_Missense_Mutation_p.P351L|NWD1_ENST00000379808.3_Missense_Mutation_p.P486L	NM_001007525.3	NP_001007526.3	Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	486	NACHT.						ATP binding			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CTCCTGGACCCGGAGGCCTAC	0.647													7	125					0	0	1	0	0	T	16860910	C	T	16860910	3	4	314	1	0	0	0	0	1	0	0	0	10829	652	23	1	1058	1	NWD1	19	16860910	Missense_Mutation	SNP	C	TCGA-HT-A5R9-01A-11D-A289-08	1589072	16860910	42268073	47	30100											
PDE4C	5143	broad.mit.edu	37	19	18337211	18337211	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr19:18337211delG	ENST00000262805.12	-	1	74	c.15delC	c.(13-15)cccfs	p.P5fs	PDE4C_ENST00000355502.3_Intron|PDE4C_ENST00000594465.3_Intron|PDE4C_ENST00000594617.3_Intron	NM_001098818.2	NP_001092288.1	Q08493	PDE4C_HUMAN	phosphodiesterase 4C, cAMP-specific						signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33					Dyphylline(DB00651)	gggcgggcgcgggggggcccT	0.761													2	4	---	---	---	---						-	18337211	G	-	18337211	7	5	314	1	0	1	0	1	0	0	0	0	11688	1103	39	0	2087	0	PDE4C	19	18337211	Frame_Shift_Del	DEL	G	TCGA-HT-A5R9-01A-11D-A289-08	1476301	18337211	40791772	48	30101											
CRTC1	23373	broad.mit.edu	37	19	18871031	18871031	+	Silent	SNP	C	C	T			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr19:18871031C>T	ENST00000338797.6	+	9	952	c.927C>T	c.(925-927)gcC>gcT	p.A309A	CRTC1_ENST00000601916.1_Silent_p.A218A|CRTC1_ENST00000594658.1_Silent_p.A252A|CRTC1_ENST00000321949.8_Silent_p.A293A	NM_001098482.1	NP_001091952.1	Q6UUV9	CRTC1_HUMAN	CREB regulated transcription coactivator 1	293	Ser-rich.				interspecies interaction between organisms|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	cAMP response element binding protein binding|protein binding		CRTC1/MAML2(516)	NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	19						TCGGTGGCGCCGGCCAGGGTA	0.667													9	17					0	0	1	0	0	T	18871031	C	T	18871031	2	4	314	1	0	0	0	0	0	0	0	1	3922	639	23	1		1	CRTC1	19	18871031	Silent	SNP	C	TCGA-HT-A5R9-01A-11D-A289-08	533820	18871031	40257952	49	30102											
UPF1	5976	broad.mit.edu	37	19	18968249	18968249	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr19:18968249C>T	ENST00000262803.5	+	15	2361	c.2089C>T	c.(2089-2091)Cgc>Tgc	p.R697C	UPF1_ENST00000599848.1_Missense_Mutation_p.R708C	NM_002911.3	NP_002902.2	Q92900	RENT1_HUMAN	UPF1 regulator of nonsense transcripts homolog (yeast)	708					cell cycle|DNA repair|DNA replication|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination	chromatin|cytoplasmic mRNA processing body|exon-exon junction complex	ATP binding|ATP-dependent RNA helicase activity|chromatin binding|DNA binding|protein binding|RNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						CCGGCCCATCCGCCTGCAGGT	0.642													43	54					0	0	1	0	0	T	18968249	C	T	18968249	3	4	314	1	0	0	0	0	1	0	0	0	17063	652	23	1	2147	1	UPF1	19	18968249	Missense_Mutation	SNP	C	TCGA-HT-A5R9-01A-11D-A289-08	97218	18968249	40160734	50	30103											
CIC	23152	broad.mit.edu	37	19	42799067	42799069	+	In_Frame_Del	DEL	GAT	GAT	-			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr19:42799067_42799069delGAT	ENST00000572681.2	+	21	7337_7339	c.7269_7271delGAT	c.(7267-7272)aagatc>aac	p.2423_2424KI>N	CIC_ENST00000575354.2_In_Frame_Del_p.1517_1518KI>N|CIC_ENST00000160740.3_In_Frame_Del_p.1515_1516KI>N			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	1517					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				TGCGCCAGAAGATCATGCAGGCT	0.65			"Mis, F, S"		oligodendroglioma								44	36	---	---	---	---						-	42799069	GAT	-	42799067	7	5	314	1	0	1	0	1	0	0	0	0	3446	933	33	0	4629	0	CIC	19	42799067	In_Frame_Del	DEL	GAT	TCGA-HT-A5R9-01A-11D-A289-08	23830818	42799067	16329916	51	30104											
NLRP7	199713	broad.mit.edu	37	19	55451739	55451739	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr19:55451739C>T	ENST00000446217.1	-	6	934	c.532G>A	c.(532-534)Gtc>Atc	p.V178I	NLRP7_ENST00000340844.2_Missense_Mutation_p.V150I|NLRP7_ENST00000328092.5_Missense_Mutation_p.V150I|NLRP7_ENST00000448121.2_Missense_Mutation_p.V150I|NLRP7_ENST00000590030.1_Missense_Mutation_p.V150I|NLRP7_ENST00000588756.1_Missense_Mutation_p.V150I|NLRP7_ENST00000592784.1_Missense_Mutation_p.V150I			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	150	NACHT.						ATP binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		CTCAGAGTGACGTCGTCATGG	0.498													144	70					0	0	1	0	0	T	55451739	C	T	55451739	3	4	314	1	0	0	0	0	1	0	0	0	10529	536	19	1	2697	1	NLRP7	19	55451739	Missense_Mutation	SNP	C	TCGA-HT-A5R9-01A-11D-A289-08	12652672	55451739	3677244	52	30105											
TRPM2	7226	broad.mit.edu	37	21	45774548	45774548	+	Silent	SNP	G	G	A			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr21:45774548G>A	ENST00000397928.1	+	2	628	c.183G>A	c.(181-183)tcG>tcA	p.S61S	TRPM2_ENST00000397932.2_Silent_p.S61S|TRPM2_ENST00000300482.5_Silent_p.S61S|TRPM2_ENST00000300481.9_Silent_p.S61S	NM_003307.3	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	61						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						GCCTCAGTTCGTGGATTCCTG	0.458													11	94					0	0	1	0	0	A	45774548	G	A	45774548	2	1	314	1	0	0	0	0	0	0	0	1	16647	1132	40	1		1	TRPM2	21	45774548	Silent	SNP	G	TCGA-HT-A5R9-01A-11D-A289-08		45774548	2355347	53	30106											
MID1	4281	broad.mit.edu	37	X	10417629	10417629	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chrX:10417629T>C	ENST00000317552.4	-	10	2183	c.1783A>G	c.(1783-1785)Att>Gtt	p.I595V	MID1_ENST00000380780.1_Missense_Mutation_p.I595V|MID1_ENST00000380779.1_Missense_Mutation_p.I595V|MID1_ENST00000380782.2_3'UTR|MID1_ENST00000453318.2_Missense_Mutation_p.I595V|MID1_ENST00000380785.1_Missense_Mutation_p.I595V|MID1_ENST00000380787.1_Missense_Mutation_p.I595V|MID1_ENST00000479925.1_5'UTR	NM_000381.3|NM_033289.1	NP_000372.1|NP_150631.1	O15344	TRI18_HUMAN	midline 1 (Opitz/BBB syndrome)	595	B30.2/SPRY.				microtubule cytoskeleton organization|pattern specification process|positive regulation of stress-activated MAPK cascade	cytoplasm|microtubule|microtubule associated complex|spindle	ligase activity|ubiquitin protein ligase binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	26						GCAGGCTCAATGGGGATTTCC	0.547													5	143					0	0	1	0	0	C	10417629	T	C	10417629	3	2	314	1	0	0	0	0	1	0	0	0	9624	1464	51	3	224	3	MID1	23	10417629	Missense_Mutation	SNP	T	TCGA-HT-A5R9-01A-11D-A289-08		10417629	144852931	54	30107											
RBBP7	5931	broad.mit.edu	37	X	16887194	16887197	+	Splice_Site	DEL	CTTA	CTTA	-			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chrX:16887194_16887197delCTTA	ENST00000380087.2	-	2	522		c.e2+1		RBBP7_ENST00000380084.4_Splice_Site|RBBP7_ENST00000404022.1_Splice_Site			Q16576	RBBP7_HUMAN	retinoblastoma binding protein 7						cell proliferation|cellular heat acclimation|CenH3-containing nucleosome assembly at centromere|DNA replication|multicellular organismal development|negative regulation of cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex|NuRD complex	protein binding			biliary_tract(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	25	Hepatocellular(33;0.0997)					GCCAGAAACCCTTACTTAGTCACT	0.392													37	52	---	---	---	---						-	16887197	CTTA	-	16887194	8	5	314	1	0	1	0	1	0	0	1	0	13156	696	24	0		0	RBBP7	23	16887194	Splice_Site	DEL	CTTA	TCGA-HT-A5R9-01A-11D-A289-08	6469565	16887194	138383366	55	30108											
PASD1	139135	broad.mit.edu	37	X	150793999	150793999	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chrX:150793999T>C	ENST00000370357.4	+	8	871	c.626T>C	c.(625-627)cTc>cCc	p.L209P		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	209						nucleus	signal transducer activity			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					GTGGGAGAGCTCAGGTGAGAG	0.333													70	217					0	0	1	0	0	C	150793999	T	C	150793999	3	2	314	1	0	0	0	0	1	0	0	0	11518	1551	54	3	652	3	PASD1	23	150793999	Missense_Mutation	SNP	T	TCGA-HT-A5R9-01A-11D-A289-08	133906805	150793999	4476561	56	30109											
PLEKHN1	84069	broad.mit.edu	37	1	906524	906524	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr1:906524G>A	ENST00000379409.2	+	6	830	c.800G>A	c.(799-801)gGg>gAg	p.G267E	PLEKHN1_ENST00000379407.3_Missense_Mutation_p.G227E|PLEKHN1_ENST00000379410.3_Missense_Mutation_p.G215E			Q494U1	PKHN1_HUMAN	pleckstrin homology domain containing, family N member 1	267										central_nervous_system(1)|endometrium(3)|kidney(1)|lung(2)|skin(1)|urinary_tract(1)	9	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.00095)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)		ACGGCGTCAGGGCACGAACCC	0.692													11	10					0	0	1	0	0	A	906524	G	A	906524	3	1	315	1	0	0	0	0	1	0	0	0	12131	1232	43	2	706	2	PLEKHN1	1	906524	Missense_Mutation	SNP	G	TCGA-HT-A5RA-01A-11D-A289-08		906524	248344097	1	30110											
CDK11B	984	broad.mit.edu	37	1	1571791	1571791	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr1:1571791G>A	ENST00000407249.3	-	19	1978	c.1979C>T	c.(1978-1980)gCa>gTa	p.A660V	CDK11B_ENST00000317673.7_Missense_Mutation_p.A658V|CDK11B_ENST00000341832.6_Missense_Mutation_p.A613V|CDK11B_ENST00000340677.5_Missense_Mutation_p.A647V			P21127	CD11B_HUMAN	cyclin-dependent kinase 11B	670	Protein kinase.				apoptosis|cell proliferation|mitosis|regulation of cell growth|regulation of mRNA processing|regulation of transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity|protein binding			endometrium(2)|large_intestine(3)|lung(4)|skin(1)|stomach(2)	12						CTTCTTGACTGCTGGGAGCTC	0.572													5	42					0	0	1	0	0	A	1571791	G	A	1571791	3	1	315	1	0	0	0	0	1	0	0	0	3149	1319	46	2	390	2	CDK11B	1	1571791	Missense_Mutation	SNP	G	TCGA-HT-A5RA-01A-11D-A289-08	665267	1571791	247678830	2	30111											
HSPB7	27129	broad.mit.edu	37	1	16343699	16343699	+	Missense_Mutation	SNP	C	C	T	rs143274675		TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr1:16343699C>T	ENST00000311890.9	-	2	1029	c.203G>A	c.(202-204)cGc>cAc	p.R68H	HSPB7_ENST00000487046.1_Missense_Mutation_p.R73H|HSPB7_ENST00000375718.4_Missense_Mutation_p.R143H|HSPB7_ENST00000406363.2_Missense_Mutation_p.R72H|HSPB7_ENST00000411503.1_Missense_Mutation_p.R68H	NM_014424.4	NP_055239.1	Q9UBY9	HSPB7_HUMAN	heat shock 27kDa protein family, member 7 (cardiovascular)	68	Required for localization to SC35 splicing speckles.				regulation of heart contraction|response to heat|response to unfolded protein	Cajal body	protein C-terminus binding			breast(1)|large_intestine(1)|liver(1)|lung(6)|skin(1)	10		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.21e-08)|COAD - Colon adenocarcinoma(227;5.5e-06)|BRCA - Breast invasive adenocarcinoma(304;9.08e-05)|Kidney(64;0.000162)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00656)|READ - Rectum adenocarcinoma(331;0.0649)		CCCACCGGGGCGGGCTGTGGG	0.627													77	115					0	0	1	0	0	T	16343699	C	T	16343699	3	4	315	1	0	0	0	0	1	0	0	0	7466	768	27	1	317	1	HSPB7	1	16343699	Missense_Mutation	SNP	C	TCGA-HT-A5RA-01A-11D-A289-08	14771908	16343699	232906922	3	30112											
HSPG2	3339	broad.mit.edu	37	1	22176934	22176934	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr1:22176934C>T	ENST00000374695.3	-	56	7295	c.7216G>A	c.(7216-7218)Gtg>Atg	p.V2406M	HSPG2_ENST00000430507.1_3'UTR	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	2406	Ig-like C2-type 9.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	ACTCGGCACACGTACTCGCCC	0.657													10	18					0	0	1	0	0	T	22176934	C	T	22176934	3	4	315	1	0	0	0	0	1	0	0	0	7474	536	19	1	6127	1	HSPG2	1	22176934	Missense_Mutation	SNP	C	TCGA-HT-A5RA-01A-11D-A289-08	5833235	22176934	227073687	4	30113											
PTPRU	10076	broad.mit.edu	37	1	29611340	29611340	+	Silent	SNP	C	C	T			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr1:29611340C>T	ENST00000373779.3	+	14	2406	c.2277C>T	c.(2275-2277)ctC>ctT	p.L759L	PTPRU_ENST00000428026.2_Silent_p.L759L|PTPRU_ENST00000356870.3_Silent_p.L759L|PTPRU_ENST00000415600.2_3'UTR|PTPRU_ENST00000460170.2_Silent_p.L759L|PTPRU_ENST00000345512.3_Silent_p.L759L|PTPRU_ENST00000323874.8_Silent_p.L759L	NM_001195001.1|NM_133178.3	NP_001181930.1|NP_573439.2	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	759					canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		TTGCTGTCCTCATCCTTCTCC	0.617													37	62					0	0	1	0	0	T	29611340	C	T	29611340	2	4	315	1	0	0	0	0	0	0	0	1	12865	813	29	2		2	PTPRU	1	29611340	Silent	SNP	C	TCGA-HT-A5RA-01A-11D-A289-08	7434406	29611340	219639281	5	30114											
MKNK1	8569	broad.mit.edu	37	1	47024299	47024299	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr1:47024299G>A	ENST00000371946.4	-	14	1509	c.1346C>T	c.(1345-1347)gCc>gTc	p.A449V	MKNK1_ENST00000341183.5_3'UTR|MKNK1_ENST00000371944.4_Missense_Mutation_p.A313V|MKNK1_ENST00000371945.4_Missense_Mutation_p.A408V|MKNK1-AS1_ENST00000602433.1_RNA	NM_003684.5	NP_003675.2	Q9BUB5	MKNK1_HUMAN	MAP kinase interacting serine/threonine kinase 1	449					intracellular protein kinase cascade|peptidyl-serine phosphorylation|regulation of translation	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	13	Acute lymphoblastic leukemia(166;0.155)					CTGGGCCAGGGCCCGTCTCCG	0.622													20	38					0	0	1	0	0	A	47024299	G	A	47024299	3	1	315	1	0	0	0	0	1	0	0	0	9652	1203	42	2	55	2	MKNK1	1	47024299	Missense_Mutation	SNP	G	TCGA-HT-A5RA-01A-11D-A289-08	17412959	47024299	202226322	6	30115											
C8B	732	broad.mit.edu	37	1	57411659	57411659	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr1:57411659G>A	ENST00000543257.1	-	8	1350	c.784C>T	c.(784-786)Cat>Tat	p.H262Y	C8B_ENST00000535057.1_Missense_Mutation_p.H252Y|C8B_ENST00000371237.4_Missense_Mutation_p.H314Y	NM_001278543.1	NP_001265472.1	P07358	CO8B_HUMAN	complement component 8, beta polypeptide	314	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						AACTCGTAATGGAGCATGAGG	0.468													32	38					0	0	1	0	0	A	57411659	G	A	57411659	3	1	315	1	0	0	0	0	1	0	0	0	2433	1348	47	2	859	2	C8B	1	57411659	Missense_Mutation	SNP	G	TCGA-HT-A5RA-01A-11D-A289-08	10387360	57411659	191838962	7	30116											
CELSR2	1952	broad.mit.edu	37	1	109805496	109805496	+	Missense_Mutation	SNP	G	G	A	rs148197539		TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr1:109805496G>A	ENST00000271332.3	+	7	4674	c.4613G>A	c.(4612-4614)cGa>cAa	p.R1538Q		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	1538	Laminin G-like 1.				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		TTCCCAGTCCGAATGCGGCAG	0.627													4	149					0	0	1	0	0	A	109805496	G	A	109805496	3	1	315	1	0	0	0	0	1	0	0	0	3244	1058	37	1	4639	1	CELSR2	1	109805496	Missense_Mutation	SNP	G	TCGA-HT-A5RA-01A-11D-A289-08	52393837	109805496	139445125	8	30117											
SNAPIN	23557	broad.mit.edu	37	1	153632019	153632021	+	In_Frame_Del	DEL	AAC	AAC	-			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr1:153632019_153632021delAAC	ENST00000368685.5	+	3	376_378	c.286_288delAAC	c.(286-288)aacdel	p.N97del	SNAPIN_ENST00000478558.1_3'UTR	NM_012437.5	NP_036569.1	O95295	SNAPN_HUMAN	SNAP-associated protein	97					intracellular protein transport|synaptic vesicle exocytosis	BLOC-1 complex|cell junction|perinuclear region of cytoplasm|synaptic vesicle membrane|synaptosome	SNARE binding			lung(3)	3	all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			TGTCTTGGTTAACAACATTCTAC	0.433													47	72	---	---	---	---						-	153632021	AAC	-	153632019	7	5	315	1	0	1	0	1	0	0	0	0	14893	362	13	0	296	0	SNAPIN	1	153632019	In_Frame_Del	DEL	AAC	TCGA-HT-A5RA-01A-11D-A289-08	43826523	153632019	95618602	9	30118											
PFKFB2	5208	broad.mit.edu	37	1	207252343	207252343	+	Silent	SNP	G	G	A	rs144692490		TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr1:207252343G>A	ENST00000367079.2	+	15	1468	c.1395G>A	c.(1393-1395)gcG>gcA	p.A465A	PFKFB2_ENST00000411990.2_Silent_p.A367A|PFKFB2_ENST00000473310.1_3'UTR|PFKFB2_ENST00000541914.1_Silent_p.A258A	NM_001018053.1	NP_001018063.1	O60825	F262_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 2	0	Fructose-2,6-bisphosphatase.				fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	20	Prostate(682;0.19)					CCTCCGCAGCGTCCCTCATGT	0.552													75	94					0	0	1	0	0	A	207252343	G	A	207252343	2	1	315	1	0	0	0	0	0	0	0	1	11809	1132	40	1		1	PFKFB2	1	207252343	Silent	SNP	G	TCGA-HT-A5RA-01A-11D-A289-08	53620324	207252343	41998278	10	30119											
SLC35F3	148641	broad.mit.edu	37	1	234367298	234367298	+	Missense_Mutation	SNP	C	C	T	rs141749628	by1000genomes	TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr1:234367298C>T	ENST00000366618.3	+	3	564	c.419C>T	c.(418-420)gCg>gTg	p.A140V	SLC35F3_ENST00000366617.3_Missense_Mutation_p.A71V	NM_173508.2	NP_775779.1	Q8IY50	S35F3_HUMAN	solute carrier family 35, member F3	71					transport	integral to membrane				breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|urinary_tract(1)	32	Ovarian(103;0.0454)	all_cancers(173;0.145)|Prostate(94;0.0885)	OV - Ovarian serous cystadenocarcinoma(106;0.00531)			TGGGGCGTGGCGGTCGTGCTG	0.697													4	165					0	0	1	0	0	T	234367298	C	T	234367298	3	4	315	1	0	0	0	0	1	0	0	0	14645	768	27	1	429	1	SLC35F3	1	234367298	Missense_Mutation	SNP	C	TCGA-HT-A5RA-01A-11D-A289-08	27114955	234367298	14883323	11	30120											
LTBP1	4052	broad.mit.edu	37	2	33525560	33525560	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr2:33525560A>G	ENST00000404816.2	+	21	3631	c.3278A>G	c.(3277-3279)cAg>cGg	p.Q1093R	LTBP1_ENST00000418533.2_Missense_Mutation_p.Q767R|LTBP1_ENST00000404525.1_Missense_Mutation_p.Q714R|LTBP1_ENST00000402934.1_Missense_Mutation_p.Q714R|LTBP1_ENST00000354476.3_Missense_Mutation_p.Q1094R|LTBP1_ENST00000390003.4_Missense_Mutation_p.Q768R|LTBP1_ENST00000498013.1_3'UTR|LTBP1_ENST00000407925.1_Missense_Mutation_p.Q767R|LTBP1_ENST00000272273.5_Missense_Mutation_p.Q33R			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	1093	EGF-like 9; calcium-binding (Potential).				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				GTAAACGGGCAGTGCAAAAAT	0.473													55	62					0	0	1	0	0	G	33525560	A	G	33525560	3	3	315	1	0	0	0	0	1	0	0	0	9118	188	7	3	3415	3	LTBP1	2	33525560	Missense_Mutation	SNP	A	TCGA-HT-A5RA-01A-11D-A289-08		33525560	209673813	12	30121											
MOGS	7841	broad.mit.edu	37	2	74689679	74689679	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr2:74689679G>A	ENST00000233616.4	-	4	1399	c.1237C>T	c.(1237-1239)Cca>Tca	p.P413S	MOGS_ENST00000409065.1_3'UTR|MOGS_ENST00000452063.2_Missense_Mutation_p.P307S	NM_006302.2	NP_006293.2	Q13724	MOGS_HUMAN	mannosyl-oligosaccharide glucosidase	413					oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane|membrane fraction	mannosyl-oligosaccharide glucosidase activity			cervix(1)|endometrium(6)|large_intestine(3)|lung(10)|prostate(1)|urinary_tract(2)	23						CCGATGTCTGGCAATACCAGC	0.597													5	240					0	0	1	0	0	A	74689679	G	A	74689679	3	1	315	1	0	0	0	0	1	0	0	0	9746	1203	42	2	1280	2	MOGS	2	74689679	Missense_Mutation	SNP	G	TCGA-HT-A5RA-01A-11D-A289-08	41164119	74689679	168509694	13	30122											
SLC16A14	151473	broad.mit.edu	37	2	230923895	230923895	+	Silent	SNP	G	G	A			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr2:230923895G>A	ENST00000295190.4	-	2	632	c.174C>T	c.(172-174)aaC>aaT	p.N58N		NM_152527.4	NP_689740.2	Q7RTX9	MOT14_HUMAN	solute carrier family 16, member 14	58						integral to membrane|plasma membrane	symporter activity			NS(1)|cervix(1)|endometrium(7)|large_intestine(7)|lung(3)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.149)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;7.31e-13)|all cancers(144;5.1e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00948)		GCCATTCCACGTTGAGGACAC	0.562													52	49					0	0	1	0	0	A	230923895	G	A	230923895	2	1	315	1	0	0	0	0	0	0	0	1	14462	1136	40	1		1	SLC16A14	2	230923895	Silent	SNP	G	TCGA-HT-A5RA-01A-11D-A289-08	156234216	230923895	12275478	14	30123											
MST1	4485	broad.mit.edu	37	3	49723596	49723596	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr3:49723596G>A	ENST00000449682.2	-	9	1407	c.1046C>T	c.(1045-1047)cCc>cTc	p.P349L	MST1_ENST00000383728.3_3'UTR	NM_020998.3	NP_066278.3	P26927	HGFL_HUMAN	macrophage stimulating 1 (hepatocyte growth factor-like)	335	Kringle 3.				proteolysis	extracellular region	serine-type endopeptidase activity	p.P335L(5)		NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2)	41				BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		TGAGCCGTCGGGGTTCCGGCA	0.667													3	27					0	0	1	0	0	A	49723596	G	A	49723596	3	1	315	1	0	0	0	0	1	0	0	0	9938	1232	43	2	1171	2	MST1	3	49723596	Missense_Mutation	SNP	G	TCGA-HT-A5RA-01A-11D-A289-08		49723596	148298834	15	30124											
CD200R1L	344807	broad.mit.edu	37	3	112546321	112546321	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr3:112546321G>A	ENST00000488794.1	-	5	849	c.260C>T	c.(259-261)tCg>tTg	p.S87L	CD200R1L_ENST00000448932.1_Missense_Mutation_p.S87L|CD200R1L_ENST00000398214.1_Missense_Mutation_p.S108L			Q6Q8B3	MO2R2_HUMAN	CD200 receptor 1-like	108	Ig-like V-type.					integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|urinary_tract(2)	19						CTGAAGGTCCGAATTCTGATC	0.463													47	65					0	0	1	0	0	A	112546321	G	A	112546321	3	1	315	1	0	0	0	0	1	0	0	0	3004	1059	37	1	508	1	CD200R1L	3	112546321	Missense_Mutation	SNP	G	TCGA-HT-A5RA-01A-11D-A289-08	62822725	112546321	85476109	16	30125											
MUC4	4585	broad.mit.edu	37	3	195488980	195488980	+	Silent	SNP	C	C	T			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr3:195488980C>T	ENST00000463781.3	-	14	14949	c.14490G>A	c.(14488-14490)caG>caA	p.Q4830Q	MUC4_ENST00000349607.4_Silent_p.Q543Q|MUC4_ENST00000475231.1_Silent_p.Q4778Q|MUC4_ENST00000346145.4_Silent_p.Q594Q	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	1587					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		CCGTGCGGTTCTGGTACTCGG	0.736													10	25					0	0	1	0	0	T	195488980	C	T	195488980	2	4	315	1	0	0	0	0	0	0	0	1	10026	912	32	2		2	MUC4	3	195488980	Silent	SNP	C	TCGA-HT-A5RA-01A-11D-A289-08	82942659	195488980	2533450	17	30126											
EXOC1	55763	broad.mit.edu	37	4	56734654	56734654	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr4:56734654G>T	ENST00000381295.2	+	5	916	c.568G>T	c.(568-570)Gaa>Taa	p.E190*	EXOC1_ENST00000346134.7_Nonsense_Mutation_p.E190*|EXOC1_ENST00000349598.6_Nonsense_Mutation_p.E190*	NM_001024924.1	NP_001020095.1	Q9NV70	EXOC1_HUMAN	exocyst complex component 1	190					exocytosis|protein transport	exocyst	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	35	Glioma(25;0.08)|all_neural(26;0.101)					AGCCTTTGCAGAAAAATTGTC	0.393													25	31					2.41591e-17	2.51352e-17	1	1	0	T	56734654	G	T	56734654	4	4	315	1	0	0	0	0	0	1	0	0	5328	943	33	4	582	4	EXOC1	4	56734654	Nonsense_Mutation	SNP	G	TCGA-HT-A5RA-01A-11D-A289-08		56734654	134419622	18	30127											
DCHS2	54798	broad.mit.edu	37	4	155176790	155176790	+	Silent	SNP	G	G	A			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr4:155176790G>A	ENST00000357232.4	-	21	5456	c.5457C>T	c.(5455-5457)aaC>aaT	p.N1819N		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2		Cadherin 16.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		CAATCAGGCCGTTCAAACCAC	0.408													22	18					0	0	1	0	0	A	155176790	G	A	155176790	2	1	315	1	0	0	0	0	0	0	0	1	4311	1136	40	1		1	DCHS2	4	155176790	Silent	SNP	G	TCGA-HT-A5RA-01A-11D-A289-08	98442136	155176790	35977486	19	30128											
NPY5R	4889	broad.mit.edu	37	4	164271443	164271443	+	Silent	SNP	C	C	T			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr4:164271443C>T	ENST00000515560.1	+	4	1540	c.18C>T	c.(16-18)gaC>gaT	p.D6D	NPY5R_ENST00000338566.3_Silent_p.D6D|NPY5R_ENST00000506953.1_Silent_p.D6D			Q15761	NPY5R_HUMAN	neuropeptide Y receptor Y5	6					cardiac left ventricle morphogenesis|outflow tract morphogenesis	integral to plasma membrane				NS(2)|biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(26)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_hematologic(180;0.166)	Prostate(90;0.109)				TAGAGCTCGACGAGTATTATA	0.358													23	36					0	0	1	0	0	T	164271443	C	T	164271443	2	4	315	1	0	0	0	0	0	0	0	1	10658	535	19	1		1	NPY5R	4	164271443	Silent	SNP	C	TCGA-HT-A5RA-01A-11D-A289-08	9094653	164271443	26882833	20	30129											
FAM81B	153643	broad.mit.edu	37	5	94749822	94749822	+	Silent	SNP	C	C	T			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr5:94749822C>T	ENST00000283357.5	+	4	511	c.465C>T	c.(463-465)ctC>ctT	p.L155L		NM_152548.2	NP_689761	Q96LP2	FA81B_HUMAN	family with sequence similarity 81, member B	155										central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_cancers(142;1.1e-06)|all_epithelial(76;1.48e-09)|all_lung(232;0.000696)|Lung NSC(167;0.000947)|Ovarian(225;0.00473)		all cancers(79;1.04e-16)		AGGAATCGCTCGCCAGGAAGT	0.463													39	46					0	0	1	0	0	T	94749822	C	T	94749822	2	4	315	1	0	0	0	0	0	0	0	1	5661	871	31	1		1	FAM81B	5	94749822	Silent	SNP	C	TCGA-HT-A5RA-01A-11D-A289-08		94749822	86165438	21	30130											
STK19	8859	broad.mit.edu	37	6	31939829	31939830	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr6:31939829_31939830insA	ENST00000375331.2	+	1	222_223	c.56_57insA	c.(55-60)gcaaacfs	p.N20fs	DXO_ENST00000337523.5_5'UTR|STK19_ENST00000375333.2_Frame_Shift_Ins_p.N20fs|DXO_ENST00000478221.1_5'UTR|DXO_ENST00000375349.3_5'UTR	NM_004197.1	NP_004188.1	P49842	STK19_HUMAN	serine/threonine kinase 19	20						nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			skin(5)|upper_aerodigestive_tract(2)	7						CAGTGGCGGGCAAACCCCTCCC	0.634													8	189	---	---	---	---						A	31939830	-	A	31939829	7	5	315	1	0	1	1	0	0	0	0	0	15348	710	25	0	58	0	STK19	6	31939829	Frame_Shift_Ins	INS	-	TCGA-HT-A5RA-01A-11D-A289-08		31939829	139175238	22	30131											
TULP4	56995	broad.mit.edu	37	6	158923248	158923248	+	Silent	SNP	G	G	C			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr6:158923248G>C	ENST00000367097.3	+	13	3910	c.2553G>C	c.(2551-2553)ccG>ccC	p.P851P	TULP4_ENST00000367094.2_Intron	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN	tubby like protein 4	851					intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity			endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		CAGCACCCCCGCCCCCTCTGC	0.657													6	17					0	0	1	0	0	C	158923248	G	C	158923248	2	2	315	1	0	0	0	0	0	0	0	1	16838	1074	38	5		5	TULP4	6	158923248	Silent	SNP	G	TCGA-HT-A5RA-01A-11D-A289-08	126983419	158923248	12191819	23	30132											
SEPT7	989	broad.mit.edu	37	7	35872445	35872445	+	Missense_Mutation	SNP	A	A	G	rs11538083		TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr7:35872445A>G	ENST00000494488.2	+	2	62	c.62A>G	c.(61-63)aAt>aGt	p.N21S	SEPT7_ENST00000399034.2_Missense_Mutation_p.N36S|SEPT7_ENST00000350320.6_Missense_Mutation_p.N34S|SEPT7_ENST00000475109.1_3'UTR|SEPT7_ENST00000469679.2_Missense_Mutation_p.N34S|SEPT7_ENST00000435235.1_5'UTR|SEPT7_ENST00000399035.3_Missense_Mutation_p.N34S			Q16181	SEPT7_HUMAN	septin 7	35					cilium morphogenesis|cytokinesis|mitosis|protein heterooligomerization|regulation of embryonic cell shape	cilium axoneme|cleavage furrow|condensed chromosome kinetochore|midbody|nucleus|septin complex|spindle|stress fiber	GTP binding|protein binding|structural molecule activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)	14						GGATTTGCCAATCTCCCAAAT	0.373													64	87					0	0	1	0	0	G	35872445	A	G	35872445	3	3	315	1	0	0	0	0	1	0	0	0	14123	101	4	3	108	3	SEPT7	7	35872445	Missense_Mutation	SNP	A	TCGA-HT-A5RA-01A-11D-A289-08		35872445	123266218	24	30133											
ZAN	7455	broad.mit.edu	37	7	100377162	100377162	+	RNA	SNP	C	C	T			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr7:100377162C>T	ENST00000542585.1	+	0	6557				ZAN_ENST00000421100.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000449052.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			CCGCAGGGCGCGGGAAAAGTG	0.642													10	28					0	0	1	0	0	T	100377162	C	T	100377162	1	4	315	0	1	0	0	0	0	0	0	0	17573	759	27	1		1	ZAN	7	100377162	RNA	SNP	C	TCGA-HT-A5RA-01A-11D-A289-08	64504717	100377162	58761501	25	30134											
GRM8	2918	broad.mit.edu	37	7	126173579	126173579	+	Silent	SNP	G	G	A			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr7:126173579G>A	ENST00000339582.2	-	9	2665	c.1857C>T	c.(1855-1857)cgC>cgT	p.R619R	GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000444921.2_Silent_p.R619R|GRM8_ENST00000358373.3_Silent_p.R619R			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	619					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane		p.R619R(1)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	AACTAAGTTCGCGTCCTGAAG	0.458										HNSCC(24;0.065)			33	74					0	0	1	0	0	A	126173579	G	A	126173579	2	1	315	1	0	0	0	0	0	0	0	1	6844	1074	38	1		1	GRM8	7	126173579	Silent	SNP	G	TCGA-HT-A5RA-01A-11D-A289-08	25796417	126173579	32965084	26	30135											
ADCK2	90956	broad.mit.edu	37	7	140373257	140373257	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr7:140373257C>G	ENST00000072869.4	+	1	305	c.127C>G	c.(127-129)Ctg>Gtg	p.L43V	ADCK2_ENST00000476491.1_Missense_Mutation_p.L43V	NM_052853.3	NP_443085.2	Q7Z695	ADCK2_HUMAN	aarF domain containing kinase 2	43						integral to membrane	ATP binding|protein serine/threonine kinase activity			cervix(1)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|skin(4)	15	Melanoma(164;0.00956)					CTGCTGGCTTCTGCTGGGCAC	0.682													19	34					0	0	1	0	0	G	140373257	C	G	140373257	3	3	315	1	0	0	0	0	1	0	0	0	288	912	32	4	129	4	ADCK2	7	140373257	Missense_Mutation	SNP	C	TCGA-HT-A5RA-01A-11D-A289-08	14199678	140373257	18765406	27	30136											
TRPV6	55503	broad.mit.edu	37	7	142573633	142573633	+	Missense_Mutation	SNP	G	G	A	rs146718533		TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr7:142573633G>A	ENST00000359396.3	-	7	1032	c.787C>T	c.(787-789)Cgg>Tgg	p.R263W	RP11-114L10.2_ENST00000438839.1_RNA	NM_018646.3	NP_061116	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel, subfamily V, member 6	263					regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					GTGTGCTTCCGCTTCTGCATC	0.522													78	170					0	0	1	0	0	A	142573633	G	A	142573633	3	1	315	1	0	0	0	0	1	0	0	0	16661	1086	38	1	1426	1	TRPV6	7	142573633	Missense_Mutation	SNP	G	TCGA-HT-A5RA-01A-11D-A289-08	2200376	142573633	16565030	28	30137											
TAS2R40	259286	broad.mit.edu	37	7	142919653	142919653	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr7:142919653C>T	ENST00000408947.3	+	1	524	c.482C>T	c.(481-483)tCg>tTg	p.S161L		NM_176882.1	NP_795363.1	P59535	T2R40_HUMAN	taste receptor, type 2, member 40	161					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	8	Melanoma(164;0.059)					TTTCCTCTCTCGAGAGATGTC	0.458													62	150					0	0	1	0	0	T	142919653	C	T	142919653	3	4	315	1	0	0	0	0	1	0	0	0	15635	893	31	1	484	1	TAS2R40	7	142919653	Missense_Mutation	SNP	C	TCGA-HT-A5RA-01A-11D-A289-08	346020	142919653	16219010	29	30138											
CNTNAP2	26047	broad.mit.edu	37	7	147259309	147259309	+	Silent	SNP	C	C	T			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr7:147259309C>T	ENST00000361727.3	+	12	2373	c.1857C>T	c.(1855-1857)agC>agT	p.S619S		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	619	Fibrinogen C-terminal.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			CTGATGGCAGCGGACCTCTGG	0.398										HNSCC(39;0.1)			42	94					0	0	1	0	0	T	147259309	C	T	147259309	2	4	315	1	0	0	0	0	0	0	0	1	3670	767	27	1		1	CNTNAP2	7	147259309	Silent	SNP	C	TCGA-HT-A5RA-01A-11D-A289-08	4339656	147259309	11879354	30	30139											
DEFA4	1669	broad.mit.edu	37	8	6793553	6793553	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr8:6793553G>A	ENST00000297435.2	-	3	407	c.283C>T	c.(283-285)Cgt>Tgt	p.R95C		NM_001925.1	NP_001916.1	P12838	DEF4_HUMAN	defensin, alpha 4, corticostatin	95					defense response to bacterium|defense response to fungus|killing of cells of other organism	extracellular space				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)	10				COAD - Colon adenocarcinoma(149;0.0572)|READ - Rectum adenocarcinoma(644;0.121)		TAATCGACACGCGTGCAGCAG	0.507													66	51					0	0	1	0	0	A	6793553	G	A	6793553	3	1	315	1	0	0	0	0	1	0	0	0	4414	1087	38	1	14	1	DEFA4	8	6793553	Missense_Mutation	SNP	G	TCGA-HT-A5RA-01A-11D-A289-08		6793553	139570469	31	30140											
FER1L6	654463	broad.mit.edu	37	8	125107242	125107242	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr8:125107242G>A	ENST00000522917.1	+	35	4864	c.4658G>A	c.(4657-4659)cGg>cAg	p.R1553Q	FER1L6-AS2_ENST00000520031.1_RNA|FER1L6_ENST00000399018.1_Missense_Mutation_p.R1553Q	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	1553						integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			ATAGAAACTCGGCCACTGTAC	0.478													14	39					0	0	1	0	0	A	125107242	G	A	125107242	3	1	315	1	0	0	0	0	1	0	0	0	5848	1116	39	1	4792	1	FER1L6	8	125107242	Missense_Mutation	SNP	G	TCGA-HT-A5RA-01A-11D-A289-08	118313689	125107242	21256780	32	30141											
EPPK1	83481	broad.mit.edu	37	8	144941624	144941624	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr8:144941624G>A	ENST00000525985.1	-	2	5869	c.5798C>T	c.(5797-5799)gCg>gTg	p.A1933V				P58107	EPIPL_HUMAN	epiplakin 1	1933						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)			GGCGGCCTGCGCCTCCAGCAG	0.667													35	64					0	0	1	0	0	A	144941624	G	A	144941624	3	1	315	1	0	0	0	0	1	0	0	0	5218	1087	38	1	1468	1	EPPK1	8	144941624	Missense_Mutation	SNP	G	TCGA-HT-A5RA-01A-11D-A289-08	19834382	144941624	1422398	33	30142											
PLEC	5339	broad.mit.edu	37	8	144990367	144990367	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr8:144990367delC	ENST00000322810.4	-	32	14202	c.14033delG	c.(14032-14034)ggcfs	p.G4678fs	PLEC_ENST00000354958.2_Frame_Shift_Del_p.G4519fs|PLEC_ENST00000398774.2_Frame_Shift_Del_p.G4509fs|PLEC_ENST00000345136.3_Frame_Shift_Del_p.G4541fs|PLEC_ENST00000356346.3_Frame_Shift_Del_p.G4527fs|PLEC_ENST00000354589.3_Frame_Shift_Del_p.G4541fs|PLEC_ENST00000357649.2_Frame_Shift_Del_p.G4545fs|PLEC_ENST00000436759.2_Frame_Shift_Del_p.G4568fs|PLEC_ENST00000527096.1_Frame_Shift_Del_p.G4564fs	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	4678	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						AGACTCAGGGCCCCCCAGGGA	0.716													2	4	---	---	---	---						-	144990367	C	-	144990367	7	5	315	1	0	1	0	1	0	0	0	0	12100	739	26	0	25	0	PLEC	8	144990367	Frame_Shift_Del	DEL	C	TCGA-HT-A5RA-01A-11D-A289-08	48743	144990367	1373655	34	30143											
ADAMTSL1	92949	broad.mit.edu	37	9	18906845	18906845	+	Missense_Mutation	SNP	A	A	T			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr9:18906845A>T	ENST00000380548.4	+	28	5456	c.5117A>T	c.(5116-5118)cAc>cTc	p.H1706L	ADAMTSL1_ENST00000380545.5_Missense_Mutation_p.H407L	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	1706	TSP type-1 9.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		GTGCCTGAGCACCTGTGCTCC	0.597													4	69					0	0	1	0	0	T	18906845	A	T	18906845	3	4	315	1	0	0	0	0	1	0	0	0	273	159	6	5	5231	5	ADAMTSL1	9	18906845	Missense_Mutation	SNP	A	TCGA-HT-A5RA-01A-11D-A289-08		18906845	122306586	35	30144											
RUSC2	9853	broad.mit.edu	37	9	35546640	35546640	+	Missense_Mutation	SNP	G	G	C			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr9:35546640G>C	ENST00000455600.1	+	2	691	c.122G>C	c.(121-123)aGa>aCa	p.R41T	RUSC2_ENST00000468041.1_3'UTR	NM_001135999.1	NP_001129471	Q8N2Y8	RUSC2_HUMAN	RUN and SH3 domain containing 2	41						cytosol				NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			GGGAGCACAAGACCTAATCCC	0.592													6	83					0	0	1	0	0	C	35546640	G	C	35546640	3	2	315	1	0	0	0	0	1	0	0	0	13803	942	33	4	124	4	RUSC2	9	35546640	Missense_Mutation	SNP	G	TCGA-HT-A5RA-01A-11D-A289-08	16639795	35546640	105666791	36	30145											
RUSC2	9853	broad.mit.edu	37	9	35548107	35548107	+	Missense_Mutation	SNP	C	C	A			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr9:35548107C>A	ENST00000455600.1	+	2	2158	c.1589C>A	c.(1588-1590)gCc>gAc	p.A530D		NM_001135999.1	NP_001129471	Q8N2Y8	RUSC2_HUMAN	RUN and SH3 domain containing 2	530						cytosol				NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			GGCCCTGCAGCCATGGCCGGG	0.667													15	36					1.5739e-10	1.62111e-10	1	1	0	A	35548107	C	A	35548107	3	1	315	1	0	0	0	0	1	0	0	0	13803	739	26	5	1591	5	RUSC2	9	35548107	Missense_Mutation	SNP	C	TCGA-HT-A5RA-01A-11D-A289-08	1467	35548107	105665324	37	30146											
PTAR1	375743	broad.mit.edu	37	9	72349082	72349082	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr9:72349082delC	ENST00000377200.5	-	2	177	c.175delG	c.(175-177)gaafs	p.E59fs	PTAR1_ENST00000340434.4_Frame_Shift_Del_p.E138fs			Q7Z6K3	PTAR1_HUMAN	protein prenyltransferase alpha subunit repeat containing 1	138					protein prenylation		protein prenyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)	5						ATCCATGTTTCTGGACTCTTT	0.388													16	17	---	---	---	---						-	72349082	C	-	72349082	7	5	315	1	0	1	0	1	0	0	0	0	12773	922	32	0	816	0	PTAR1	9	72349082	Frame_Shift_Del	DEL	C	TCGA-HT-A5RA-01A-11D-A289-08	36800975	72349082	68864349	38	30147											
WAPAL	23063	broad.mit.edu	37	10	88231975	88231975	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr10:88231975G>A	ENST00000298767.5	-	7	2492	c.2020C>T	c.(2020-2022)Cgt>Tgt	p.R674C		NM_015045.2	NP_055860.1	Q7Z5K2	WAPL_HUMAN	wings apart-like homolog (Drosophila)	674	WAPL.				cell division|interspecies interaction between organisms|mitosis|negative regulation of chromatin binding|negative regulation of DNA replication|negative regulation of sister chromatid cohesion|protein localization to chromatin|regulation of cohesin localization to chromatin	chromatin|cohesin complex|cytoplasm	protein binding			breast(2)|endometrium(2)|kidney(5)|large_intestine(6)|lung(13)|ovary(2)|stomach(1)	31						CTAAGGCAACGTGTGTTTAGA	0.333													16	6					0	0	1	0	0	A	88231975	G	A	88231975	3	1	315	1	0	0	0	0	1	0	0	0	17308	1145	40	1	1604	1	WAPAL	10	88231975	Missense_Mutation	SNP	G	TCGA-HT-A5RA-01A-11D-A289-08		88231975	47302772	39	30148											
PTEN	5728	broad.mit.edu	37	10	89692877	89692877	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr10:89692877G>A	ENST00000371953.3	+	5	1718	c.361G>A	c.(361-363)Gca>Aca	p.A121T		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	121	Phosphatase tensin-type.		A -> G (in HNSCC).|A -> P (in glioblastoma; loss of phosphatase activity towards Ins(1,3,4,5)P4).		activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.?(5)|p.R55fs*1(5)|p.A121P(3)|p.Y27fs*1(2)|p.A121_F145del(1)|p.F56fs*2(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TCATGTTGCAGCAATTCACTG	0.393		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			54	23					0	0	1	0	0	A	89692877	G	A	89692877	3	1	315	1	0	0	0	0	1	0	0	0	12787	971	34	2	379	2	PTEN	10	89692877	Missense_Mutation	SNP	G	TCGA-HT-A5RA-01A-11D-A289-08	1460902	89692877	45841870	40	30149											
TNNT3	7140	broad.mit.edu	37	11	1956135	1956135	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr11:1956135C>T	ENST00000381558.1	+	13	922	c.643C>T	c.(643-645)Cgc>Tgc	p.R215C	TNNT3_ENST00000381561.4_Missense_Mutation_p.R226C|TNNT3_ENST00000397304.2_Missense_Mutation_p.R204C|TNNT3_ENST00000446240.1_Missense_Mutation_p.R204C|TNNT3_ENST00000360603.3_Missense_Mutation_p.R217C|TNNT3_ENST00000381548.3_Missense_Mutation_p.R225C|TNNT3_ENST00000493234.1_3'UTR|TNNT3_ENST00000397301.1_Missense_Mutation_p.R234C|TNNT3_ENST00000278317.6_Missense_Mutation_p.R223C|TNNT3_ENST00000381549.3_Missense_Mutation_p.R215C|TNNT3_ENST00000381589.3_Missense_Mutation_p.R221C|TNNT3_ENST00000381579.3_Missense_Mutation_p.R215C			P45378	TNNT3_HUMAN	troponin T type 3 (skeletal, fast)	234					muscle filament sliding|regulation of ATPase activity|regulation of striated muscle contraction|skeletal muscle contraction	cytosol|troponin complex	calcium-dependent protein binding|tropomyosin binding|troponin C binding|troponin I binding	p.R223C(1)		breast(2)|endometrium(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(4)|stomach(1)	19		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00253)|Lung(200;0.0333)|LUSC - Lung squamous cell carcinoma(625;0.0826)		GAAGCTGAAACGCCAGAAATA	0.612													95	124					0	0	1	0	0	T	1956135	C	T	1956135	3	4	315	1	0	0	0	0	1	0	0	0	16392	536	19	1	758	1	TNNT3	11	1956135	Missense_Mutation	SNP	C	TCGA-HT-A5RA-01A-11D-A289-08		1956135	133050381	41	30150											
OR51T1	401665	broad.mit.edu	37	11	4903765	4903765	+	Silent	SNP	C	C	T	rs138268565		TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr11:4903765C>T	ENST00000380378.1	+	1	717	c.717C>T	c.(715-717)gaC>gaT	p.D239D	MMP26_ENST00000477339.1_Intron|OR51T1_ENST00000322049.1_Silent_p.D212D|MMP26_ENST00000380390.1_Intron	NM_001004759.1	NP_001004759.1	Q8NGJ9	O51T1_HUMAN	olfactory receptor, family 51, subfamily T, member 1	212					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		ATGGCACTGACGTATTGTTTA	0.443													39	49					0	0	1	0	0	T	4903765	C	T	4903765	2	4	315	1	0	0	0	0	0	0	0	1	11154	535	19	1		1	OR51T1	11	4903765	Silent	SNP	C	TCGA-HT-A5RA-01A-11D-A289-08	2947630	4903765	130102751	42	30151											
AHNAK	79026	broad.mit.edu	37	11	62287402	62287402	+	Silent	SNP	G	G	A	rs141073062		TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr11:62287402G>A	ENST00000378024.4	-	5	14761	c.14487C>T	c.(14485-14487)gaC>gaT	p.D4829D	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	4829					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TCAGTTTTGCGTCTGGACCTT	0.488													4	186					0	0	1	0	0	A	62287402	G	A	62287402	2	1	315	1	0	0	0	0	0	0	0	1	411	1136	40	1		1	AHNAK	11	62287402	Silent	SNP	G	TCGA-HT-A5RA-01A-11D-A289-08	57383637	62287402	72719114	43	30152											
SLC6A12	6539	broad.mit.edu	37	12	311930	311930	+	Missense_Mutation	SNP	T	T	G			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr12:311930T>G	ENST00000428720.1	-	5	1209	c.466A>C	c.(466-468)Acc>Ccc	p.T156P	SLC6A12_ENST00000359674.4_Missense_Mutation_p.T156P|SLC6A12_ENST00000536824.1_Missense_Mutation_p.T156P|SLC6A12_ENST00000424061.2_Missense_Mutation_p.T156P|SLC6A12_ENST00000538272.1_5'UTR|SLC6A12_ENST00000397296.2_Missense_Mutation_p.T156P	NM_001122848.2	NP_001116320.1	P48065	S6A12_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 12	156					cellular nitrogen compound metabolic process|neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0172)|all_epithelial(11;0.0283)|all_lung(10;0.0392)|Lung NSC(10;0.0567)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00227)			TTGTTGCAGGTCGTCCAGGGC	0.517													34	51					0	0	1	0	0	G	311930	T	G	311930	3	3	315	1	0	0	0	0	1	0	0	0	14730	1667	58	5	1426	5	SLC6A12	12	311930	Missense_Mutation	SNP	T	TCGA-HT-A5RA-01A-11D-A289-08		311930	133539965	44	30153											
KCNH3	23416	broad.mit.edu	37	12	49937975	49937975	+	Silent	SNP	G	G	T			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr12:49937975G>T	ENST00000257981.6	+	7	1259	c.999G>T	c.(997-999)ctG>ctT	p.L333L		NM_012284.1	NP_036416.1	Q9ULD8	KCNH3_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 3	333					regulation of transcription, DNA-dependent	integral to membrane	two-component sensor activity|voltage-gated potassium channel activity			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36						GGGCCCATCTGCTGAAGACGG	0.701													11	16					6.40141e-05	6.52817e-05	1	1	0	T	49937975	G	T	49937975	2	4	315	1	0	0	0	0	0	0	0	1	8077	1306	46	5		5	KCNH3	12	49937975	Silent	SNP	G	TCGA-HT-A5RA-01A-11D-A289-08	49626045	49937975	83913920	45	30154											
NACA	4666	broad.mit.edu	37	12	57112308	57112308	+	Silent	SNP	A	A	G			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr12:57112308A>G	ENST00000454682.1	-	3	3287	c.3006T>C	c.(3004-3006)acT>acC	p.T1002T	NACA_ENST00000552540.1_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000546392.1_Intron	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN	nascent polypeptide-associated complex alpha subunit	0					interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						TGGGGGATGGAGTAGCTGGAC	0.652			T	BCL6	NHL								9	140					0	0	1	0	0	G	57112308	A	G	57112308	2	3	315	1	0	0	0	0	0	0	0	1	10181	291	11	3		3	NACA	12	57112308	Silent	SNP	A	TCGA-HT-A5RA-01A-11D-A289-08	7174333	57112308	76739587	46	30155											
ACADS	35	broad.mit.edu	37	12	121176678	121176678	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr12:121176678G>A	ENST00000242592.4	+	8	1140	c.989G>A	c.(988-990)cGc>cAc	p.R330H	ACADS_ENST00000411593.2_Missense_Mutation_p.R326H	NM_000017.2	NP_000008.1	P16219	ACADS_HUMAN	acyl-CoA dehydrogenase, C-2 to C-3 short chain	330						mitochondrial matrix	butyryl-CoA dehydrogenase activity	p.R330H(2)		central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(3)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)	Lung NSC(355;0.163)			NADH(DB00157)	CTGACCTGGCGCGCTGCCATG	0.642													55	79					0	0	1	0	0	A	121176678	G	A	121176678	3	1	315	1	0	0	0	0	1	0	0	0	114	1087	38	1	1019	1	ACADS	12	121176678	Missense_Mutation	SNP	G	TCGA-HT-A5RA-01A-11D-A289-08	64064370	121176678	12675217	47	30156											
NPAS3	64067	broad.mit.edu	37	14	34263138	34263138	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr14:34263138C>T	ENST00000346562.2	+	9	1167	c.1093C>T	c.(1093-1095)Cgc>Tgc	p.R365C	NPAS3_ENST00000356141.4_Missense_Mutation_p.R397C|NPAS3_ENST00000548645.1_Missense_Mutation_p.R367C|NPAS3_ENST00000357798.5_Missense_Mutation_p.R384C|NPAS3_ENST00000551492.1_Missense_Mutation_p.R402C	NM_001164749.1|NM_001165893.1|NM_022123.2|NM_173159.2	NP_001158221.1|NP_001159365.1|NP_071406.1|NP_775182.1	Q8IXF0	NPAS3_HUMAN	neuronal PAS domain protein 3	397	PAC.|PAS 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)		AAAGTACTATCGCTGGATGCA	0.373													23	38					0	0	1	0	0	T	34263138	C	T	34263138	3	4	315	1	0	0	0	0	1	0	0	0	10611	884	31	1	1282	1	NPAS3	14	34263138	Missense_Mutation	SNP	C	TCGA-HT-A5RA-01A-11D-A289-08		34263138	73086402	48	30157											
TELO2	9894	broad.mit.edu	37	16	1552359	1552359	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr16:1552359G>A	ENST00000262319.6	+	13	1886	c.1607G>A	c.(1606-1608)cGg>cAg	p.R536Q	TELO2_ENST00000564507.1_3'UTR	NM_016111.3	NP_057195.2	Q9Y4R8	TELO2_HUMAN	telomere maintenance 2	536						chromosome, telomeric region|cytoplasm|membrane|nucleus	protein binding			NS(1)|endometrium(1)|kidney(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	19		Hepatocellular(780;0.219)				GCAGCCCTGCGGGCCCTTGAG	0.667													14	12					0	0	1	0	0	A	1552359	G	A	1552359	3	1	315	1	0	0	0	0	1	0	0	0	15816	1116	39	1	1653	1	TELO2	16	1552359	Missense_Mutation	SNP	G	TCGA-HT-A5RA-01A-11D-A289-08		1552359	88802394	49	30158											
PRSS27	83886	broad.mit.edu	37	16	2762757	2762757	+	Missense_Mutation	SNP	A	A	C			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr16:2762757A>C	ENST00000302641.3	-	6	791	c.737T>G	c.(736-738)gTg>gGg	p.V246G		NM_031948.3	NP_114154.1	Q9BQR3	PRS27_HUMAN	protease, serine 27	246	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	8						CCAGCTGATCACCCCCGCCTG	0.667													6	8					0	0	1	0	0	C	2762757	A	C	2762757	3	2	315	1	0	0	0	0	1	0	0	0	12670	159	6	5	139	5	PRSS27	16	2762757	Missense_Mutation	SNP	A	TCGA-HT-A5RA-01A-11D-A289-08	1210398	2762757	87591996	50	30159											
DNAH2	146754	broad.mit.edu	37	17	7637984	7637984	+	Silent	SNP	G	G	A			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr17:7637984G>A	ENST00000572933.1	+	7	2396	c.936G>A	c.(934-936)tcG>tcA	p.S312S	DNAH2_ENST00000570791.1_Silent_p.S312S|DNAH2_ENST00000082259.3_Silent_p.S312S|DNAH2_ENST00000389173.2_Silent_p.S312S			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	312	Stem (By similarity).		S -> T (in dbSNP:rs3744254).		ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.S312S(1)		NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TTGCCAAGTCGTCCTACTTGG	0.522													32	53					0	0	1	0	0	A	7637984	G	A	7637984	2	1	315	1	0	0	0	0	0	0	0	1	4630	1132	40	1		1	DNAH2	17	7637984	Silent	SNP	G	TCGA-HT-A5RA-01A-11D-A289-08		7637984	73557226	51	30160											
ARHGEF15	22899	broad.mit.edu	37	17	8216517	8216517	+	Silent	SNP	C	C	T			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr17:8216517C>T	ENST00000361926.3	+	3	989	c.879C>T	c.(877-879)ttC>ttT	p.F293F	ARHGEF15_ENST00000421050.1_Silent_p.F293F	NM_173728.3	NP_776089.2	O94989	ARHGF_HUMAN	Rho guanine nucleotide exchange factor (GEF) 15	293					negative regulation of synapse maturation|regulation of Rho protein signal transduction	dendrite|intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						CCACCATTTTCGGGGACCCCC	0.592													33	55					0	0	1	0	0	T	8216517	C	T	8216517	2	4	315	1	0	0	0	0	0	0	0	1	895	883	31	1		1	ARHGEF15	17	8216517	Silent	SNP	C	TCGA-HT-A5RA-01A-11D-A289-08	578533	8216517	72978693	52	30161											
MYH10	4628	broad.mit.edu	37	17	8379260	8379260	+	Silent	SNP	A	A	C			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr17:8379260A>C	ENST00000360416.3	-	43	6024	c.5886T>G	c.(5884-5886)ggT>ggG	p.G1962G	MYH10_ENST00000379980.4_Silent_p.G1947G|MYH10_ENST00000396239.1_Silent_p.G1952G|MYH10_ENST00000269243.4_Silent_p.G1931G|NDEL1_ENST00000299734.7_Intron	NM_001256012.1	NP_001242941.1	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	1931					actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						TGATGGGGCCACCCCGCCTGG	0.567													12	60					0	0	1	0	0	C	8379260	A	C	8379260	2	2	315	1	0	0	0	0	0	0	0	1	10078	146	6	5		5	MYH10	17	8379260	Silent	SNP	A	TCGA-HT-A5RA-01A-11D-A289-08	162743	8379260	72815950	53	30162											
SEC11C	90701	broad.mit.edu	37	18	56823020	56823020	+	Missense_Mutation	SNP	G	G	A	rs115898236	by1000genomes	TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr18:56823020G>A	ENST00000587834.1	+	4	920	c.448G>A	c.(448-450)Gtg>Atg	p.V150M	SEC11C_ENST00000588875.1_Missense_Mutation_p.V150M	NM_033280.2	NP_150596.1	Q9BY50	SC11C_HUMAN	SEC11 homolog C (S. cerevisiae)	150					energy reserve metabolic process|regulation of insulin secretion|signal peptide processing	endoplasmic reticulum membrane|integral to membrane|microsome	serine-type peptidase activity			endometrium(1)|large_intestine(4)|liver(2)|lung(2)	9		Colorectal(73;0.175)				AAAGAAGGACGTGGTGGGAAG	0.363													29	48					0	0	1	0	0	A	56823020	G	A	56823020	3	1	315	1	0	0	0	0	1	0	0	0	14033	1145	40	1	462	1	SEC11C	18	56823020	Missense_Mutation	SNP	G	TCGA-HT-A5RA-01A-11D-A289-08		56823020	21254228	54	30163											
CD22	933	broad.mit.edu	37	19	35831915	35831915	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr19:35831915G>A	ENST00000085219.5	+	7	1447	c.1381G>A	c.(1381-1383)Gcc>Acc	p.A461T	CD22_ENST00000544992.2_Missense_Mutation_p.A461T|CD22_ENST00000419549.2_Missense_Mutation_p.A289T|CD22_ENST00000536635.2_Missense_Mutation_p.A373T|CD22_ENST00000270311.6_Missense_Mutation_p.A341T|CD22_ENST00000594250.1_Missense_Mutation_p.A284T|CD22_ENST00000341773.6_Missense_Mutation_p.A284T	NM_001771.3	NP_001762.2	P20273	CD22_HUMAN	CD22 molecule	461	Ig-like C2-type 4.				cell adhesion		protein binding|sugar binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		OspA lipoprotein(DB00045)	ACCCCATGGCGCCTGGGAGGA	0.542													33	96					0	0	1	0	0	A	35831915	G	A	35831915	3	1	315	1	0	0	0	0	1	0	0	0	3007	1087	38	1	1403	1	CD22	19	35831915	Missense_Mutation	SNP	G	TCGA-HT-A5RA-01A-11D-A289-08		35831915	23297068	55	30164											
SIPA1L3	23094	broad.mit.edu	37	19	38572687	38572687	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr19:38572687G>A	ENST00000222345.6	+	3	991	c.482G>A	c.(481-483)aGg>aAg	p.R161K		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	161					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			TCCCCCGGCAGGGCCTTCCTC	0.711													71	153					0	0	1	0	0	A	38572687	G	A	38572687	3	1	315	1	0	0	0	0	1	0	0	0	14386	1000	35	2	484	2	SIPA1L3	19	38572687	Missense_Mutation	SNP	G	TCGA-HT-A5RA-01A-11D-A289-08	2740772	38572687	20556296	56	30165											
ZNF331	55422	broad.mit.edu	37	19	54081063	54081063	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr19:54081063G>A	ENST00000253144.9	+	7	2582	c.1249G>A	c.(1249-1251)Ggg>Agg	p.G417R	ZNF331_ENST00000449416.1_Missense_Mutation_p.G417R|ZNF331_ENST00000513999.1_Missense_Mutation_p.G417R|ZNF331_ENST00000511593.2_Missense_Mutation_p.G417R|ZNF331_ENST00000411977.2_Missense_Mutation_p.G417R|ZNF331_ENST00000511154.1_Missense_Mutation_p.G417R|ZNF331_ENST00000512387.1_Missense_Mutation_p.G417R	NM_001253801.1|NM_018555.5	NP_001240730.1|NP_061025.5	Q9NQX6	ZN331_HUMAN	zinc finger protein 331	417					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	10				GBM - Glioblastoma multiforme(134;0.00555)		TACAGAATGTGGGAAGAGCTT	0.473			T	?	follicular thyroid adenoma								17	50					0	0	1	0	0	A	54081063	G	A	54081063	3	1	315	1	0	0	0	0	1	0	0	0	17906	1348	47	2	1259	2	ZNF331	19	54081063	Missense_Mutation	SNP	G	TCGA-HT-A5RA-01A-11D-A289-08	15508376	54081063	5047920	57	30166											
LAMA5	3911	broad.mit.edu	37	20	60885876	60885876	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr20:60885876G>T	ENST00000252999.3	-	75	10357	c.10291C>A	c.(10291-10293)Cgc>Agc	p.R3431S		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	3431	Laminin G-like 4.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TTCTCCCAGCGCACGGAGACC	0.721													3	19					0.115264	0.116394	1	1	0	T	60885876	G	T	60885876	3	4	315	1	0	0	0	0	1	0	0	0	8648	1087	38	5	820	5	LAMA5	20	60885876	Missense_Mutation	SNP	G	TCGA-HT-A5RA-01A-11D-A289-08		60885876	2139644	58	30167											
GART	2618	broad.mit.edu	37	21	34911630	34911630	+	Splice_Site	SNP	C	C	T			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr21:34911630C>T	ENST00000381831.3	-	2	256		c.e2-1		GART_ENST00000361093.5_5'UTR|GART_ENST00000381839.3_5'UTR|GART_ENST00000381815.4_5'UTR	NM_001136005.1	NP_001129477.1	P22102	PUR2_HUMAN	phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase						'de novo' IMP biosynthetic process|purine base biosynthetic process	cytosol	ATP binding|metal ion binding|methyltransferase activity|phosphoribosylamine-glycine ligase activity|phosphoribosylformylglycinamidine cyclo-ligase activity|phosphoribosylglycinamide formyltransferase activity|protein binding			NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(13)|ovary(3)|prostate(5)|urinary_tract(1)	31					Pemetrexed(DB00642)	ATTGTTCTGTCTGTAAAGCAG	0.438													38	98					0	0	1	0	0	T	34911630	C	T	34911630	5	4	315	1	0	0	0	0	0	0	1	0	6283	927	32	2		2	GART	21	34911630	Splice_Site	SNP	C	TCGA-HT-A5RA-01A-11D-A289-08		34911630	13218265	59	30168											
PI4KA	5297	broad.mit.edu	37	22	21083938	21083938	+	Silent	SNP	C	C	T			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr22:21083938C>T	ENST00000255882.6	-	38	4556	c.4470G>A	c.(4468-4470)acG>acA	p.T1490T	PI4KA_ENST00000414196.3_Silent_p.T242T|PI4KA_ENST00000572273.1_Silent_p.T1432T	NM_058004.3	NP_477352.3	P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	1432					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			ACAGCAGCAGCGTCCTGCGCT	0.597													4	4					0	0	1	0	0	T	21083938	C	T	21083938	2	4	315	1	0	0	0	0	0	0	0	1	11921	755	27	1		1	PI4KA	22	21083938	Silent	SNP	C	TCGA-HT-A5RA-01A-11D-A289-08		21083938	30220628	60	30169											
KDM6A	7403	broad.mit.edu	37	X	44949046	44949046	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chrX:44949046G>A	ENST00000377967.4	+	25	3648	c.3607G>A	c.(3607-3609)Gca>Aca	p.A1203T	KDM6A_ENST00000382899.4_Missense_Mutation_p.A1210T|KDM6A_ENST00000543216.1_Missense_Mutation_p.A1124T|KDM6A_ENST00000536777.1_Missense_Mutation_p.A1158T	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	1203	JmjC.				histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.0?(6)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						TCTTTATGAAGCAAATGTTCC	0.373			"D, N, F, S"		"renal, oesophageal SCC, MM"								16	33					0	0	1	0	0	A	44949046	G	A	44949046	3	1	315	1	0	0	0	0	1	0	0	0	8180	971	34	2	3705	2	KDM6A	23	44949046	Missense_Mutation	SNP	G	TCGA-HT-A5RA-01A-11D-A289-08		44949046	110321514	61	30170											
ZNF41	7592	broad.mit.edu	37	X	47307146	47307146	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chrX:47307146G>A	ENST00000377065.4	-	5	2662	c.2023C>T	c.(2023-2025)Cga>Tga	p.R675*	ZNF41_ENST00000313116.7_Nonsense_Mutation_p.R675*|ZNF41_ENST00000397050.2_Nonsense_Mutation_p.R685*	NM_153380.2	NP_700359.1	P51814	ZNF41_HUMAN	zinc finger protein 41	717						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|upper_aerodigestive_tract(2)	24		all_lung(315;0.000129)				AGATTTGATCGGTCAGTGAAG	0.448													47	55					0	0	1	0	0	A	47307146	G	A	47307146	4	1	315	1	0	0	0	0	0	1	0	0	17946	1124	39	1	320	1	ZNF41	23	47307146	Nonsense_Mutation	SNP	G	TCGA-HT-A5RA-01A-11D-A289-08	2358100	47307146	107963414	62	30171											
TGIF2LX	90316	broad.mit.edu	37	X	89177102	89177102	+	Silent	SNP	C	C	T			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chrX:89177102C>T	ENST00000561129.2	+	1	148	c.18C>T	c.(16-18)gaC>gaT	p.D6D	TGIF2LX_ENST00000283891.5_Silent_p.D6D			Q8IUE1	TF2LX_HUMAN	TGFB-induced factor homeobox 2-like, X-linked	6						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.D6D(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(29)|ovary(1)|skin(3)|urinary_tract(1)	40						CCGCTGCGGACGGCCCGGCTG	0.517													34	47					0	0	1	0	0	T	89177102	C	T	89177102	2	4	315	1	0	0	0	0	0	0	0	1	15887	535	19	1		1	TGIF2LX	23	89177102	Silent	SNP	C	TCGA-HT-A5RA-01A-11D-A289-08	41869956	89177102	66093458	63	30172											
ZCCHC12	170261	broad.mit.edu	37	X	117960229	117960229	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chrX:117960229G>A	ENST00000310164.2	+	4	1529	c.1022G>A	c.(1021-1023)cGa>cAa	p.R341Q		NM_173798.2	NP_776159.1	Q6PEW1	ZCH12_HUMAN	zinc finger, CCHC domain containing 12	341					regulation of transcription, DNA-dependent|transcription, DNA-dependent		nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	22						GCCAGGAAGCGAAAACACACA	0.493													62	90					0	0	1	0	0	A	117960229	G	A	117960229	3	1	315	1	0	0	0	0	1	0	0	0	17640	1058	37	1	1024	1	ZCCHC12	23	117960229	Missense_Mutation	SNP	G	TCGA-HT-A5RA-01A-11D-A289-08	28783127	117960229	37310331	64	30173											
MAP7D3	79649	broad.mit.edu	37	X	135313709	135313709	+	Silent	SNP	A	A	G			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chrX:135313709A>G	ENST00000316077.9	-	8	1627	c.1407T>C	c.(1405-1407)gcT>gcC	p.A469A	MAP7D3_ENST00000370663.5_Silent_p.A451A|MAP7D3_ENST00000370661.1_Silent_p.A434A	NM_024597.3	NP_078873.2	Q8IWC1	MA7D3_HUMAN	MAP7 domain containing 3	469						cytoplasm|spindle				central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1)	44	Acute lymphoblastic leukemia(192;0.000127)					AAACCTTTGGAGCGTCTCTCG	0.423													65	91					0	0	1	0	0	G	135313709	A	G	135313709	2	3	315	1	0	0	0	0	0	0	0	1	9319	291	11	3		3	MAP7D3	23	135313709	Silent	SNP	A	TCGA-HT-A5RA-01A-11D-A289-08	17353480	135313709	19956851	65	30174											
MAMLD1	10046	broad.mit.edu	37	X	149638772	149638772	+	Silent	SNP	G	G	A			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chrX:149638772G>A	ENST00000370401.2	+	4	1237	c.927G>A	c.(925-927)gcG>gcA	p.A309A	MAMLD1_ENST00000426613.2_Silent_p.A284A|MAMLD1_ENST00000432680.2_Silent_p.A284A|MAMLD1_ENST00000262858.5_Silent_p.A309A			Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	309					male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		p.A236A(1)|p.A309A(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37	Acute lymphoblastic leukemia(192;6.56e-05)					AGCTGAAGGCGTTGGCAGCCA	0.632													59	78					0	0	1	0	0	A	149638772	G	A	149638772	2	1	315	1	0	0	0	0	0	0	0	1	9258	1132	40	1		1	MAMLD1	23	149638772	Silent	SNP	G	TCGA-HT-A5RA-01A-11D-A289-08	14325063	149638772	5631788	66	30175											
BGN	633	broad.mit.edu	37	X	152773771	152773771	+	Silent	SNP	C	C	T			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chrX:152773771C>T	ENST00000331595.4	+	8	1161	c.975C>T	c.(973-975)ttC>ttT	p.F325F	BGN_ENST00000480756.1_3'UTR	NM_001711.4	NP_001702.1	P21810	PGS1_HUMAN	biglycan	325						proteinaceous extracellular matrix|transport vesicle	extracellular matrix structural constituent			breast(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)	16	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCATGGGCTTCGGGGTGAAGC	0.617													164	164					0	0	1	0	0	T	152773771	C	T	152773771	2	4	315	1	0	0	0	0	0	0	0	1	1417	883	31	1		1	BGN	23	152773771	Silent	SNP	C	TCGA-HT-A5RA-01A-11D-A289-08	3134999	152773771	2496789	67	30176											
HTRA2	27429	broad.mit.edu	37	2	74757185	74757186	+	Frame_Shift_Ins	INS	-	-	G			TCGA-HT-A5RB-01A-11D-A289-08	TCGA-HT-A5RB-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	badfd81e-213a-4a00-b2a6-d3fc0ec351cf	abe3f148-9638-4601-9848-f309142fed65	g.chr2:74757185_74757186insG	ENST00000258080.3	+	1	682_683	c.52_53insG	c.(52-54)cggfs	p.R18fs	HTRA2_ENST00000467961.1_Intron|HTRA2_ENST00000352222.3_Frame_Shift_Ins_p.R18fs	NM_013247.4	NP_037379.1	O43464	HTRA2_HUMAN	HtrA serine peptidase 2	18					apoptosis|proteolysis|response to stress	CD40 receptor complex|endoplasmic reticulum membrane|internal side of plasma membrane|mitochondrial intermembrane space|mitochondrial membrane|nucleus	serine-type endopeptidase activity|unfolded protein binding			endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	12						TCGGGCATGGCGGGCTTTGGGG	0.718													8	144	---	---	---	---						G	74757186	-	G	74757185	7	5	316	1	0	1	1	0	0	0	0	0	7498	759	27	0	54	0	HTRA2	2	74757185	Frame_Shift_Ins	INS	-	TCGA-HT-A5RB-01A-11D-A289-08		74757185	168442188	1	30177											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-HT-A5RB-01A-11D-A289-08	TCGA-HT-A5RB-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	badfd81e-213a-4a00-b2a6-d3fc0ec351cf	abe3f148-9638-4601-9848-f309142fed65	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	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								21	53					0	0	1	0	0	T	209113112	C	T	209113112	3	4	316	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HT-A5RB-01A-11D-A289-08	134355927	209113112	34086261	2	30178											
FBN2	2201	broad.mit.edu	37	5	127640762	127640762	+	Missense_Mutation	SNP	C	C	A			TCGA-HT-A5RB-01A-11D-A289-08	TCGA-HT-A5RB-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	badfd81e-213a-4a00-b2a6-d3fc0ec351cf	abe3f148-9638-4601-9848-f309142fed65	g.chr5:127640762C>A	ENST00000508053.1	-	51	6661	c.5687G>T	c.(5686-5688)tGt>tTt	p.C1896F	FBN2_ENST00000262464.4_Missense_Mutation_p.C1896F			P35556	FBN2_HUMAN	fibrillin 2	1896	EGF-like 31; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		AATTTCTAAACATTCATTGCG	0.353													3	32					0.115264	0.115264	1	1	0	A	127640762	C	A	127640762	3	1	316	1	0	0	0	0	1	0	0	0	5736	478	17	5	3135	5	FBN2	5	127640762	Missense_Mutation	SNP	C	TCGA-HT-A5RB-01A-11D-A289-08		127640762	53274498	3	30179											
TGFBI	7045	broad.mit.edu	37	5	135382574	135382574	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-A5RB-01A-11D-A289-08	TCGA-HT-A5RB-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	badfd81e-213a-4a00-b2a6-d3fc0ec351cf	abe3f148-9638-4601-9848-f309142fed65	g.chr5:135382574T>C	ENST00000442011.2	+	5	655	c.494T>C	c.(493-495)aTt>aCt	p.I165T	TGFBI_ENST00000305126.8_Missense_Mutation_p.I165T	NM_000358.2	NP_000349.1	Q15582	BGH3_HUMAN	transforming growth factor, beta-induced, 68kDa	165	FAS1 1.				angiogenesis|cell adhesion|cell proliferation|negative regulation of cell adhesion|response to stimulus|visual perception	extracellular space|proteinaceous extracellular matrix	integrin binding			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			AATGTCAACATTGAGCTGCTC	0.537													3	34					0	0	1	0	0	C	135382574	T	C	135382574	3	2	316	1	0	0	0	0	1	0	0	0	15880	1493	52	3	512	3	TGFBI	5	135382574	Missense_Mutation	SNP	T	TCGA-HT-A5RB-01A-11D-A289-08	7741812	135382574	45532686	4	30180											
STK19	8859	broad.mit.edu	37	6	31939829	31939830	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HT-A5RB-01A-11D-A289-08	TCGA-HT-A5RB-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	badfd81e-213a-4a00-b2a6-d3fc0ec351cf	abe3f148-9638-4601-9848-f309142fed65	g.chr6:31939829_31939830insA	ENST00000375331.2	+	1	222_223	c.56_57insA	c.(55-60)gcaaacfs	p.N20fs	DXO_ENST00000337523.5_5'UTR|STK19_ENST00000375333.2_Frame_Shift_Ins_p.N20fs|DXO_ENST00000375349.3_5'UTR|DXO_ENST00000478221.1_5'UTR	NM_004197.1	NP_004188.1	P49842	STK19_HUMAN	serine/threonine kinase 19	20						nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			skin(5)|upper_aerodigestive_tract(2)	7						CAGTGGCGGGCAAACCCCTCCC	0.634													7	223	---	---	---	---						A	31939830	-	A	31939829	7	5	316	1	0	1	1	0	0	0	0	0	15348	710	25	0	58	0	STK19	6	31939829	Frame_Shift_Ins	INS	-	TCGA-HT-A5RB-01A-11D-A289-08		31939829	139175238	5	30181											
LIMK1	3984	broad.mit.edu	37	7	73520287	73520287	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-A5RB-01A-11D-A289-08	TCGA-HT-A5RB-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	badfd81e-213a-4a00-b2a6-d3fc0ec351cf	abe3f148-9638-4601-9848-f309142fed65	g.chr7:73520287A>G	ENST00000418310.1	+	6	883	c.781A>G	c.(781-783)Atc>Gtc	p.I261V	LIMK1_ENST00000538333.3_Missense_Mutation_p.I197V|LIMK1_ENST00000336180.2_Missense_Mutation_p.I231V			P53667	LIMK1_HUMAN	LIM domain kinase 1	231					actin cytoskeleton organization|axon guidance|negative regulation of ubiquitin-protein ligase activity|positive regulation of actin filament bundle assembly|positive regulation of axon extension|Rho protein signal transduction	cytosol|growth cone|nucleus	ATP binding|heat shock protein binding|protein serine/threonine kinase activity|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	21		Lung NSC(55;0.137)				TGGCACGCCCATCCGAAATGT	0.607													42	51					0	0	1	0	0	G	73520287	A	G	73520287	3	3	316	1	0	0	0	0	1	0	0	0	8841	217	8	3	713	3	LIMK1	7	73520287	Missense_Mutation	SNP	A	TCGA-HT-A5RB-01A-11D-A289-08		73520287	85618376	6	30182											
DPP6	1804	broad.mit.edu	37	7	154002608	154002608	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A5RB-01A-11D-A289-08	TCGA-HT-A5RB-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	badfd81e-213a-4a00-b2a6-d3fc0ec351cf	abe3f148-9638-4601-9848-f309142fed65	g.chr7:154002608C>T	ENST00000332007.3	+	1	414	c.29C>T	c.(28-30)tCg>tTg	p.S10L	DPP6_ENST00000404039.1_Intron|DPP6_ENST00000427557.1_Missense_Mutation_p.S10L|DPP6_ENST00000377770.3_Intron|DPP6_ENST00000406326.1_Intron|DPP6_ENST00000496611.1_3'UTR			P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	0					cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			CCAAGCGCTTCGGGGAAATCC	0.607													3	16					0	0	1	0	0	T	154002608	C	T	154002608	3	4	316	1	0	0	0	0	1	0	0	0	4756	893	31	1	333	1	DPP6	7	154002608	Missense_Mutation	SNP	C	TCGA-HT-A5RB-01A-11D-A289-08	80482321	154002608	5136055	7	30183											
UBE3C	9690	broad.mit.edu	37	7	156932027	156932027	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-A5RB-01A-11D-A289-08	TCGA-HT-A5RB-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	badfd81e-213a-4a00-b2a6-d3fc0ec351cf	abe3f148-9638-4601-9848-f309142fed65	g.chr7:156932027A>G	ENST00000348165.5	+	1	421	c.61A>G	c.(61-63)Agg>Ggg	p.R21G	UBE3C_ENST00000389103.4_Missense_Mutation_p.R21G	NM_014671.2	NP_055486.2	Q15386	UBE3C_HUMAN	ubiquitin protein ligase E3C	21	Cis-determinant of acceptor ubiquitin- binding.				protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity			central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1)	63		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)		CGGCGCGAGCAGGAAGGTGAG	0.751													4	45					0	0	1	0	0	G	156932027	A	G	156932027	3	3	316	1	0	0	0	0	1	0	0	0	16942	179	7	3	63	3	UBE3C	7	156932027	Missense_Mutation	SNP	A	TCGA-HT-A5RB-01A-11D-A289-08	2929419	156932027	2206636	8	30184											
TNKS	8658	broad.mit.edu	37	8	9588459	9588459	+	Silent	SNP	C	C	T			TCGA-HT-A5RB-01A-11D-A289-08	TCGA-HT-A5RB-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	badfd81e-213a-4a00-b2a6-d3fc0ec351cf	abe3f148-9638-4601-9848-f309142fed65	g.chr8:9588459C>T	ENST00000310430.6	+	14	2087	c.2061C>T	c.(2059-2061)ccC>ccT	p.P687P	TNKS_ENST00000518281.1_Silent_p.P450P	NM_003747.2	NP_003738.2	O95271	TNKS1_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase	687					mitotic spindle organization|mRNA transport|negative regulation of DNA binding|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of telomere maintenance via telomerase|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein poly-ADP-ribosylation|protein polyubiquitination|protein transport|spindle assembly|transmembrane transport|Wnt receptor signaling pathway	chromosome, centromeric region|Golgi membrane|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material	NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding			NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	49				COAD - Colon adenocarcinoma(149;0.0467)		ATTCCACGCCCTTACACTTCG	0.498													31	53					0	0	1	0	0	T	9588459	C	T	9588459	2	4	316	1	0	0	0	0	0	0	0	1	16379	668	24	2		2	TNKS	8	9588459	Silent	SNP	C	TCGA-HT-A5RB-01A-11D-A289-08		9588459	136775563	9	30185											
PDGFRL	5157	broad.mit.edu	37	8	17447012	17447012	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-A5RB-01A-11D-A289-08	TCGA-HT-A5RB-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	badfd81e-213a-4a00-b2a6-d3fc0ec351cf	abe3f148-9638-4601-9848-f309142fed65	g.chr8:17447012A>G	ENST00000541323.1	+	3	536	c.91A>G	c.(91-93)Aaa>Gaa	p.K31E	PDGFRL_ENST00000251630.6_Missense_Mutation_p.K31E|PDGFRL_ENST00000398074.3_Missense_Mutation_p.K31E	NM_006207.2	NP_006198.1	Q15198	PGFRL_HUMAN	platelet-derived growth factor receptor-like	31						extracellular region	platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)	9				Colorectal(111;0.0752)		CAAGCGTCCAAAAGAACCAGG	0.428													101	138					0	0	1	0	0	G	17447012	A	G	17447012	3	3	316	1	0	0	0	0	1	0	0	0	11710	15	1	3	97	3	PDGFRL	8	17447012	Missense_Mutation	SNP	A	TCGA-HT-A5RB-01A-11D-A289-08	7858553	17447012	128917010	10	30186											
ACER2	340485	broad.mit.edu	37	9	19435024	19435024	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-A5RB-01A-11D-A289-08	TCGA-HT-A5RB-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	badfd81e-213a-4a00-b2a6-d3fc0ec351cf	abe3f148-9638-4601-9848-f309142fed65	g.chr9:19435024A>G	ENST00000340967.2	+	4	471	c.445A>G	c.(445-447)Atc>Gtc	p.I149V	ACER2_ENST00000380376.1_Missense_Mutation_p.I100V	NM_001010887.2	NP_001010887.2	Q5QJU3	ACER2_HUMAN	alkaline ceramidase 2	149					ceramide metabolic process|negative regulation of cell adhesion mediated by integrin|negative regulation of cell-matrix adhesion|negative regulation of protein glycosylation in Golgi|positive regulation of cell proliferation|response to retinoic acid|sphingosine biosynthetic process	integral to Golgi membrane	ceramidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)	13						CATCAACAACATCTCTCTGAT	0.537													16	107					0	0	1	0	0	G	19435024	A	G	19435024	3	3	316	1	0	0	0	0	1	0	0	0	139	217	8	3	459	3	ACER2	9	19435024	Missense_Mutation	SNP	A	TCGA-HT-A5RB-01A-11D-A289-08		19435024	121778407	11	30187											
KCNT1	57582	broad.mit.edu	37	9	138676392	138676392	+	Silent	SNP	G	G	A			TCGA-HT-A5RB-01A-11D-A289-08	TCGA-HT-A5RB-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	badfd81e-213a-4a00-b2a6-d3fc0ec351cf	abe3f148-9638-4601-9848-f309142fed65	g.chr9:138676392G>A	ENST00000298480.5	+	26	3029	c.2955G>A	c.(2953-2955)aaG>aaA	p.K985K	KCNT1_ENST00000263604.3_Silent_p.K966K|KCNT1_ENST00000371757.2_Silent_p.K985K|KCNT1_ENST00000486577.2_Silent_p.K944K|KCNT1_ENST00000491806.2_Silent_p.K952K|KCNT1_ENST00000487664.1_Silent_p.K940K|KCNT1_ENST00000488444.2_Silent_p.K966K|KCNT1_ENST00000490355.2_Silent_p.K964K			B7ZVY4	B7ZVY4_HUMAN	potassium channel, subfamily T, member 1	985						membrane	binding|calcium-activated potassium channel activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		CCTTCGTGAAGGACTACATGA	0.697													10	6					0	0	1	0	0	A	138676392	G	A	138676392	2	1	316	1	0	0	0	0	0	0	0	1	8135	991	35	2		2	KCNT1	9	138676392	Silent	SNP	G	TCGA-HT-A5RB-01A-11D-A289-08	119241368	138676392	2537039	12	30188											
LRIT1	26103	broad.mit.edu	37	10	86001154	86001154	+	Silent	SNP	C	C	T			TCGA-HT-A5RB-01A-11D-A289-08	TCGA-HT-A5RB-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	badfd81e-213a-4a00-b2a6-d3fc0ec351cf	abe3f148-9638-4601-9848-f309142fed65	g.chr10:86001154C>T	ENST00000372105.3	-	1	63	c.42G>A	c.(40-42)gcG>gcA	p.A14A		NM_015613.2	NP_056428.1	Q9P2V4	LRIT1_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 1	14						integral to endoplasmic reticulum membrane		p.A14A(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|skin(1)	23						GGGGGGGCCACGCAAGGGCCA	0.672													16	22					0	0	1	0	0	T	86001154	C	T	86001154	2	4	316	1	0	0	0	0	0	0	0	1	8992	523	19	1		1	LRIT1	10	86001154	Silent	SNP	C	TCGA-HT-A5RB-01A-11D-A289-08		86001154	49533593	13	30189											
AGAP11	119385	broad.mit.edu	37	10	88767686	88767686	+	RNA	DEL	T	T	-	rs71019446		TCGA-HT-A5RB-01A-11D-A289-08	TCGA-HT-A5RB-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	badfd81e-213a-4a00-b2a6-d3fc0ec351cf	abe3f148-9638-4601-9848-f309142fed65	g.chr10:88767686delT	ENST00000444431.1	+	0	2711				RP11-96C23.5_ENST00000433214.2_RNA|RP11-96C23.14_ENST00000444180.3_RNA			Q8TF27	AGA11_HUMAN	ankyrin repeat and GTPase domain Arf GTPase activating protein 11						regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding										AAAATGTATCttttttttttt	0.413													3	4	---	---	---	---						-	88767686	T	-	88767686	6	5	316	0	1	1	0	1	0	0	0	0	366	1624	56	0		0	AGAP11	10	88767686	RNA	DEL	T	TCGA-HT-A5RB-01A-11D-A289-08	2766532	88767686	46767061	14	30190											
NAT10	55226	broad.mit.edu	37	11	34139764	34139764	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A5RB-01A-11D-A289-08	TCGA-HT-A5RB-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	badfd81e-213a-4a00-b2a6-d3fc0ec351cf	abe3f148-9638-4601-9848-f309142fed65	g.chr11:34139764G>A	ENST00000257829.3	+	7	801	c.595G>A	c.(595-597)Gtc>Atc	p.V199I	NAT10_ENST00000527971.1_Missense_Mutation_p.V199I|NAT10_ENST00000531159.2_Missense_Mutation_p.V127I	NM_024662.2	NP_078938	Q9H0A0	NAT10_HUMAN	N-acetyltransferase 10 (GCN5-related)	199						nucleolus	ATP binding|N-acetyltransferase activity|protein binding			endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(5;0.0119)|all_hematologic(20;0.0231)				GAAGTGTCTCGTCATTGATGA	0.532													43	49					0	0	1	0	0	A	34139764	G	A	34139764	3	1	316	1	0	0	0	0	1	0	0	0	10222	1145	40	1	617	1	NAT10	11	34139764	Missense_Mutation	SNP	G	TCGA-HT-A5RB-01A-11D-A289-08		34139764	100866752	15	30191											
OR5M8	219484	broad.mit.edu	37	11	56258374	56258374	+	Missense_Mutation	SNP	T	T	C	rs142719978		TCGA-HT-A5RB-01A-11D-A289-08	TCGA-HT-A5RB-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	badfd81e-213a-4a00-b2a6-d3fc0ec351cf	abe3f148-9638-4601-9848-f309142fed65	g.chr11:56258374T>C	ENST00000327216.2	-	1	497	c.473A>G	c.(472-474)gAg>gGg	p.E158G		NM_001005282.1	NP_001005282.1	Q8NGP6	OR5M8_HUMAN	olfactory receptor, family 5, subfamily M, member 8	158					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(22)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Esophageal squamous(21;0.00352)					CCACATGGTCTCCATCAGGCC	0.512													48	75					0	0	1	0	0	C	56258374	T	C	56258374	3	2	316	1	0	0	0	0	1	0	0	0	11223	1551	54	3	466	3	OR5M8	11	56258374	Missense_Mutation	SNP	T	TCGA-HT-A5RB-01A-11D-A289-08	22118610	56258374	78748142	16	30192											
OR11H6	122748	broad.mit.edu	37	14	20692401	20692401	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-A5RB-01A-11D-A289-08	TCGA-HT-A5RB-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	badfd81e-213a-4a00-b2a6-d3fc0ec351cf	abe3f148-9638-4601-9848-f309142fed65	g.chr14:20692401T>C	ENST00000315519.2	+	1	611	c.533T>C	c.(532-534)aTt>aCt	p.I178T		NM_001004480.1	NP_001004480.1	Q8NGC7	O11H6_HUMAN	olfactory receptor, family 11, subfamily H, member 6	178					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(13)|ovary(2)|prostate(1)|skin(2)	29	all_cancers(95;0.00108)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0143)		CCAGTCCCTATTGTTCTTATC	0.502													21	19					0	0	1	0	0	C	20692401	T	C	20692401	3	2	316	1	0	0	0	0	1	0	0	0	10977	1493	52	3	535	3	OR11H6	14	20692401	Missense_Mutation	SNP	T	TCGA-HT-A5RB-01A-11D-A289-08		20692401	86657139	17	30193											
NIPA1	123606	broad.mit.edu	37	15	23086365	23086367	+	In_Frame_Del	DEL	GCC	GCC	-			TCGA-HT-A5RB-01A-11D-A289-08	TCGA-HT-A5RB-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	badfd81e-213a-4a00-b2a6-d3fc0ec351cf	abe3f148-9638-4601-9848-f309142fed65	g.chr15:23086365_23086367delGCC	ENST00000337435.4	-	1	69_71	c.45_47delGGC	c.(43-48)gcggcc>gcc	p.15_16AA>A	NIPA1_ENST00000437912.2_Intron|NIPA1_ENST00000561183.1_Intron	NM_001142275.1|NM_144599.4	NP_001135747.1|NP_653200.2	Q7RTP0	NIPA1_HUMAN	non imprinted in Prader-Willi/Angelman syndrome 1	15					cell death	early endosome|integral to membrane|plasma membrane				endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|skin(1)	15		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;4.18e-06)|Epithelial(43;3.97e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00165)		CCCCTCCCCGgccgccgccgccg	0.818													2	4	---	---	---	---						-	23086367	GCC	-	23086365	7	5	316	1	0	1	0	1	0	0	0	0	10469	1203	42	0	962	0	NIPA1	15	23086365	In_Frame_Del	DEL	GCC	TCGA-HT-A5RB-01A-11D-A289-08		23086365	79445027	18	30194											
TMC3	342125	broad.mit.edu	37	15	81641895	81641895	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-A5RB-01A-11D-A289-08	TCGA-HT-A5RB-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	badfd81e-213a-4a00-b2a6-d3fc0ec351cf	abe3f148-9638-4601-9848-f309142fed65	g.chr15:81641895A>G	ENST00000558726.1	-	11	1235	c.1100T>C	c.(1099-1101)gTc>gCc	p.V367A	RP11-761I4.3_ENST00000559781.1_RNA|RP11-761I4.3_ENST00000560851.1_RNA|TMC3_ENST00000359440.5_Missense_Mutation_p.V366A			Q7Z5M5	TMC3_HUMAN	transmembrane channel-like 3	366						integral to membrane				autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						GACGAGGGAGACCACCACACT	0.552													8	14					0	0	1	0	0	G	81641895	A	G	81641895	3	3	316	1	0	0	0	0	1	0	0	0	16046	275	10	3	2253	3	TMC3	15	81641895	Missense_Mutation	SNP	A	TCGA-HT-A5RB-01A-11D-A289-08	58555530	81641895	20889497	19	30195											
TP53	7157	broad.mit.edu	37	17	7578235	7578235	+	Missense_Mutation	SNP	T	T	G			TCGA-HT-A5RB-01A-11D-A289-08	TCGA-HT-A5RB-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	badfd81e-213a-4a00-b2a6-d3fc0ec351cf	abe3f148-9638-4601-9848-f309142fed65	g.chr17:7578235T>G	ENST00000420246.2	-	6	746	c.614A>C	c.(613-615)tAt>tCt	p.Y205S	TP53_ENST00000445888.2_Missense_Mutation_p.Y205S|TP53_ENST00000359597.4_Missense_Mutation_p.Y205S|TP53_ENST00000455263.2_Missense_Mutation_p.Y205S|TP53_ENST00000413465.2_Missense_Mutation_p.Y205S|TP53_ENST00000574684.1_Intron|TP53_ENST00000269305.4_Missense_Mutation_p.Y205S	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	205	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Y -> C (in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in sporadic cancers; 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.Y205C(68)|p.Y205S(14)|p.Y205F(8)|p.0?(8)|p.Y112C(5)|p.?(5)|p.Y73C(5)|p.Y73S(1)|p.Y112S(1)|p.E204fs*39(1)|p.E204_N210delEYLDDRN(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)		GTCATCCAAATACTCCACACG	0.542		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)			57	9					0	0	1	0	0	G	7578235	T	G	7578235	3	3	316	1	0	0	0	0	1	0	0	0	16442	1406	49	4	680	4	TP53	17	7578235	Missense_Mutation	SNP	T	TCGA-HT-A5RB-01A-11D-A289-08		7578235	73616975	20	30196											
RAI1	10743	broad.mit.edu	37	17	17699246	17699246	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A5RB-01A-11D-A289-08	TCGA-HT-A5RB-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	badfd81e-213a-4a00-b2a6-d3fc0ec351cf	abe3f148-9638-4601-9848-f309142fed65	g.chr17:17699246G>A	ENST00000353383.1	+	3	3453	c.2984G>A	c.(2983-2985)gGc>gAc	p.G995D	RAI1_ENST00000261641.6_Missense_Mutation_p.G995D	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	995						cytoplasm|nucleus	zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		GTGCCACGGGGCAAAAGCTTA	0.662													3	37					0	0	1	0	0	A	17699246	G	A	17699246	3	1	316	1	0	0	0	0	1	0	0	0	13059	1203	42	2	2986	2	RAI1	17	17699246	Missense_Mutation	SNP	G	TCGA-HT-A5RB-01A-11D-A289-08	10121011	17699246	63495964	21	30197											
DSG2	1829	broad.mit.edu	37	18	29121270	29121270	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-A5RB-01A-11D-A289-08	TCGA-HT-A5RB-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	badfd81e-213a-4a00-b2a6-d3fc0ec351cf	abe3f148-9638-4601-9848-f309142fed65	g.chr18:29121270A>G	ENST00000261590.8	+	13	2203	c.1994A>G	c.(1993-1995)gAa>gGa	p.E665G		NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	desmoglein 2	665					cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			GCACCACCTGAAGACAAGGTC	0.473													9	39					0	0	1	0	0	G	29121270	A	G	29121270	3	3	316	1	0	0	0	0	1	0	0	0	4803	246	9	3	2044	3	DSG2	18	29121270	Missense_Mutation	SNP	A	TCGA-HT-A5RB-01A-11D-A289-08		29121270	48955978	22	30198											
MUC16	94025	broad.mit.edu	37	19	9088746	9088746	+	Silent	SNP	T	T	C			TCGA-HT-A5RB-01A-11D-A289-08	TCGA-HT-A5RB-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	badfd81e-213a-4a00-b2a6-d3fc0ec351cf	abe3f148-9638-4601-9848-f309142fed65	g.chr19:9088746T>C	ENST00000397910.4	-	1	3272	c.3069A>G	c.(3067-3069)acA>acG	p.T1023T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1023	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGGTCTCTGTTGTGAGGATGG	0.468													81	122					0	0	1	0	0	C	9088746	T	C	9088746	2	2	316	1	0	0	0	0	0	0	0	1	10021	1799	63	3		3	MUC16	19	9088746	Silent	SNP	T	TCGA-HT-A5RB-01A-11D-A289-08		9088746	50040237	23	30199											
MAP3K10	4294	broad.mit.edu	37	19	40719044	40719044	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-A5RB-01A-11D-A289-08	TCGA-HT-A5RB-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	badfd81e-213a-4a00-b2a6-d3fc0ec351cf	abe3f148-9638-4601-9848-f309142fed65	g.chr19:40719044T>C	ENST00000253055.3	+	8	2074	c.1786T>C	c.(1786-1788)Tcc>Ccc	p.S596P		NM_002446.3	NP_002437.2	Q02779	M3K10_HUMAN	mitogen-activated protein kinase kinase kinase 10	596					activation of JUN kinase activity|induction of apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of JNK cascade|protein autophosphorylation|smoothened signaling pathway	cytoplasm	ATP binding|bHLH transcription factor binding|JUN kinase kinase kinase activity|protein homodimerization activity|transcription corepressor activity			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						CCTGGGCAAGTCCCCCAAACA	0.612													7	9					0	0	1	0	0	C	40719044	T	C	40719044	3	2	316	1	0	0	0	0	1	0	0	0	9294	1667	58	3	1816	3	MAP3K10	19	40719044	Missense_Mutation	SNP	T	TCGA-HT-A5RB-01A-11D-A289-08	31630298	40719044	18409939	24	30200											
ZNF616	90317	broad.mit.edu	37	19	52618795	52618795	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-A5RB-01A-11D-A289-08	TCGA-HT-A5RB-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	badfd81e-213a-4a00-b2a6-d3fc0ec351cf	abe3f148-9638-4601-9848-f309142fed65	g.chr19:52618795C>G	ENST00000600228.1	-	4	1883	c.1622G>C	c.(1621-1623)aGa>aCa	p.R541T	ZNF616_ENST00000330123.5_3'UTR	NM_178523.3	NP_848618.2	Q08AN1	ZN616_HUMAN	zinc finger protein 616	541					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48				GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)		AGTATGAATTCTCCGATGCCT	0.443													35	61					0	0	1	0	0	G	52618795	C	G	52618795	3	3	316	1	0	0	0	0	1	0	0	0	18098	913	32	4	727	4	ZNF616	19	52618795	Missense_Mutation	SNP	C	TCGA-HT-A5RB-01A-11D-A289-08	11899751	52618795	6510188	25	30201											
FAM3B	54097	broad.mit.edu	37	21	42710402	42710402	+	Silent	SNP	C	C	T			TCGA-HT-A5RB-01A-11D-A289-08	TCGA-HT-A5RB-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	badfd81e-213a-4a00-b2a6-d3fc0ec351cf	abe3f148-9638-4601-9848-f309142fed65	g.chr21:42710402C>T	ENST00000398652.3	+	4	444	c.378C>T	c.(376-378)taC>taT	p.Y126Y	FAM3B_ENST00000398647.3_Silent_p.Y39Y|FAM3B_ENST00000479810.2_3'UTR|FAM3B_ENST00000398646.3_Silent_p.Y110Y|FAM3B_ENST00000357985.2_Silent_p.Y87Y			P58499	FAM3B_HUMAN	family with sequence similarity 3, member B	87					apoptosis|insulin secretion	extracellular space	cytokine activity			central_nervous_system(2)|endometrium(1)|lung(2)	5		Prostate(19;1.57e-07)|all_epithelial(19;0.0404)				GAAGCAAGTACGCCAAAATCT	0.502													38	56					0	0	1	0	0	T	42710402	C	T	42710402	2	4	316	1	0	0	0	0	0	0	0	1	5593	547	19	1		1	FAM3B	21	42710402	Silent	SNP	C	TCGA-HT-A5RB-01A-11D-A289-08		42710402	5419493	26	30202											
CSF2RA	1438	broad.mit.edu	37	X	1413343	1413343	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A5RB-01A-11D-A289-08	TCGA-HT-A5RB-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	badfd81e-213a-4a00-b2a6-d3fc0ec351cf	abe3f148-9638-4601-9848-f309142fed65	g.chrX:1413343G>A	ENST00000381524.3	+	8	955	c.769G>A	c.(769-771)Gtc>Atc	p.V257I	CSF2RA_ENST00000381509.3_Missense_Mutation_p.V257I|CSF2RA_ENST00000355805.2_Intron|CSF2RA_ENST00000501036.2_Missense_Mutation_p.V124I|CSF2RA_ENST00000355432.3_Missense_Mutation_p.V257I|CSF2RA_ENST00000381500.1_Missense_Mutation_p.V257I|CSF2RA_ENST00000494969.2_Intron|CSF2RA_ENST00000498153.1_3'UTR|CSF2RA_ENST00000417535.2_Missense_Mutation_p.V257I|CSF2RA_ENST00000432318.2_Missense_Mutation_p.V257I|CSF2RA_ENST00000361536.3_Missense_Mutation_p.V257I|CSF2RA_ENST00000381529.3_Missense_Mutation_p.V257I			P15509	CSF2R_HUMAN	colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)	257						extracellular region|integral to plasma membrane	cytokine receptor activity			central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	CCAGCTGGACGTCCACAGAAA	0.632													43	71					0	0	1	0	0	A	1413343	G	A	1413343	3	1	316	1	0	0	0	0	1	0	0	0	3959	1145	40	1	791	1	CSF2RA	23	1413343	Missense_Mutation	SNP	G	TCGA-HT-A5RB-01A-11D-A289-08		1413343	153857217	27	30203											
ATRX	546	broad.mit.edu	37	X	76814303	76814306	+	Frame_Shift_Del	DEL	ATAA	ATAA	-			TCGA-HT-A5RB-01A-11D-A289-08	TCGA-HT-A5RB-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	badfd81e-213a-4a00-b2a6-d3fc0ec351cf	abe3f148-9638-4601-9848-f309142fed65	g.chrX:76814303_76814306delATAA	ENST00000373344.5	-	29	6552_6555	c.6338_6341delTTAT	c.(6337-6342)tttatcfs	p.FI2113fs	ATRX_ENST00000395603.3_Frame_Shift_Del_p.FI2075fs|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	2113	Helicase C-terminal.				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.F2113fs*9(1)|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)	AGTAGAAATGATAAATAATCGTCC	0.289			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						29	3	---	---	---	---						-	76814306	ATAA	-	76814303	7	5	316	1	0	1	0	1	0	0	0	0	1206	333	12	0	1165	0	ATRX	23	76814303	Frame_Shift_Del	DEL	ATAA	TCGA-HT-A5RB-01A-11D-A289-08	75400960	76814303	78456257	28	30204											
PRAMEF1	65121	broad.mit.edu	37	1	12856042	12856042	+	Missense_Mutation	SNP	T	T	A			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr1:12856042T>A	ENST00000332296.7	+	4	1425	c.1322T>A	c.(1321-1323)cTg>cAg	p.L441Q	PRAMEF1_ENST00000400814.3_Missense_Mutation_p.L196Q	NM_023013.2	NP_075389.1	O95521	PRAM1_HUMAN	PRAME family member 1	441										cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		ATGTGTACACTGAGGGAAGTC	0.562													46	289					0	0	1	0	0	A	12856042	T	A	12856042	3	1	317	1	0	0	0	0	1	0	0	0	12474	1580	55	5	1332	5	PRAMEF1	1	12856042	Missense_Mutation	SNP	T	TCGA-HT-A5RC-01A-11D-A289-08		12856042	236394579	1	30205											
LUZP1	7798	broad.mit.edu	37	1	23418835	23418835	+	Silent	SNP	C	C	T			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr1:23418835C>T	ENST00000302291.4	-	4	2721	c.1920G>A	c.(1918-1920)ccG>ccA	p.P640P	LUZP1_ENST00000418342.1_Silent_p.P640P|LUZP1_ENST00000374623.3_Silent_p.P640P|LUZP1_ENST00000314174.5_Silent_p.P640P			Q86V48	LUZP1_HUMAN	leucine zipper protein 1	640						nucleus		p.P640P(2)		NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(2)	31		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)		AGGCTTCATGCGGACTGCTGT	0.468													4	155					0	0	1	0	0	T	23418835	C	T	23418835	2	4	317	1	0	0	0	0	0	0	0	1	9131	755	27	1		1	LUZP1	1	23418835	Silent	SNP	C	TCGA-HT-A5RC-01A-11D-A289-08	10562793	23418835	225831786	2	30206											
CSMD2	114784	broad.mit.edu	37	1	34258115	34258115	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr1:34258115C>T	ENST00000373381.4	-	11	1635	c.1459G>A	c.(1459-1461)Gcc>Acc	p.A487T	CSMD2_ENST00000338325.1_Missense_Mutation_p.A95T	NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	447	CUB 3.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TCCTCAAAGGCGAGCTTGATC	0.532													5	71					0	0	1	0	0	T	34258115	C	T	34258115	3	4	317	1	0	0	0	0	1	0	0	0	3970	768	27	1	9360	1	CSMD2	1	34258115	Missense_Mutation	SNP	C	TCGA-HT-A5RC-01A-11D-A289-08	10839280	34258115	214992506	3	30207											
CCDC30	728621	broad.mit.edu	37	1	43110444	43110444	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr1:43110444G>A	ENST00000428554.2	+	20	2999	c.1856G>A	c.(1855-1857)cGa>cAa	p.R619Q	CCDC30_ENST00000507855.1_Missense_Mutation_p.R408Q|CCDC30_ENST00000390640.4_Missense_Mutation_p.R408Q|CCDC30_ENST00000340612.4_Missense_Mutation_p.R619Q|CCDC30_ENST00000342022.4_Missense_Mutation_p.R619Q			Q5VVM6	CCD30_HUMAN	coiled-coil domain containing 30	619										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	30						TTCTTAGAGCGAATTATAAGG	0.428													22	47					0	0	1	0	0	A	43110444	G	A	43110444	3	1	317	1	0	0	0	0	1	0	0	0	2824	1058	37	1	1902	1	CCDC30	1	43110444	Missense_Mutation	SNP	G	TCGA-HT-A5RC-01A-11D-A289-08	8852329	43110444	206140177	4	30208											
GPBP1L1	60313	broad.mit.edu	37	1	46120391	46120391	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr1:46120391G>A	ENST00000355105.3	-	6	1661	c.301C>T	c.(301-303)Cga>Tga	p.R101*	GPBP1L1_ENST00000290795.3_Nonsense_Mutation_p.R101*	NM_021639.4	NP_067652.1	Q9HC44	GPBL1_HUMAN	GC-rich promoter binding protein 1-like 1	101					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding		GPBP1L1/MAST2_ENST00000361297(2)	breast(1)|endometrium(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|stomach(1)	21	Acute lymphoblastic leukemia(166;0.155)					TCATGACCTCGGGAAGAGCTA	0.557													26	34					0	0	1	0	0	A	46120391	G	A	46120391	4	1	317	1	0	0	0	0	0	1	0	0	6636	1124	39	1	1155	1	GPBP1L1	1	46120391	Nonsense_Mutation	SNP	G	TCGA-HT-A5RC-01A-11D-A289-08	3009947	46120391	203130230	5	30209											
C1orf173	127254	broad.mit.edu	37	1	75038487	75038487	+	Silent	SNP	A	A	C			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr1:75038487A>C	ENST00000326665.5	-	14	3125	c.2907T>G	c.(2905-2907)ggT>ggG	p.G969G	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	969	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						CCTCTTCAGAACCGTCCTCTC	0.522													44	76					0	0	1	0	0	C	75038487	A	C	75038487	2	2	317	1	0	0	0	0	0	0	0	1	2027	30	2	5		5	C1orf173	1	75038487	Silent	SNP	A	TCGA-HT-A5RC-01A-11D-A289-08	28918096	75038487	174212134	6	30210											
ELTD1	64123	broad.mit.edu	37	1	79470885	79470885	+	Silent	SNP	C	C	T			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr1:79470885C>T	ENST00000370742.3	-	2	105	c.42G>A	c.(40-42)ttG>ttA	p.L14L		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	14					neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		AGGAACAATTCAACAAAGTGG	0.333													9	23					0	0	1	0	0	T	79470885	C	T	79470885	2	4	317	1	0	0	0	0	0	0	0	1	5112	825	29	2		2	ELTD1	1	79470885	Silent	SNP	C	TCGA-HT-A5RC-01A-11D-A289-08	4432398	79470885	169779736	7	30211											
OTUD7B	56957	broad.mit.edu	37	1	149916850	149916850	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr1:149916850C>T	ENST00000369135.4	-	12	1732	c.1438G>A	c.(1438-1440)Gag>Aag	p.E480K		NM_020205.2	NP_064590.2	Q6GQQ9	OTU7B_HUMAN	OTU domain containing 7B						negative regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|microtubule cytoskeleton|nucleus	cysteine-type peptidase activity|DNA binding|protein binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247)			CGGCCGCCCTCGTTGCTGGTG	0.582													8	156					0	0	1	0	0	T	149916850	C	T	149916850	3	4	317	1	0	0	0	0	1	0	0	0	11366	893	31	1	1097	1	OTUD7B	1	149916850	Missense_Mutation	SNP	C	TCGA-HT-A5RC-01A-11D-A289-08	70445965	149916850	99333771	8	30212											
FLG	2312	broad.mit.edu	37	1	152282387	152282387	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr1:152282387C>T	ENST00000368799.1	-	3	5010	c.4975G>A	c.(4975-4977)Gag>Aag	p.E1659K	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1659	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GAGGAAGTCTCTGCATGACGA	0.562									Ichthyosis				167	315					0	0	1	0	0	T	152282387	C	T	152282387	3	4	317	1	0	0	0	0	1	0	0	0	5955	922	32	2	7214	2	FLG	1	152282387	Missense_Mutation	SNP	C	TCGA-HT-A5RC-01A-11D-A289-08	2365537	152282387	96968234	9	30213											
OBSCN	84033	broad.mit.edu	37	1	228548163	228548163	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr1:228548163C>T	ENST00000284548.11	+	81	19644	c.19570C>T	c.(19570-19572)Cga>Tga	p.R6524*	OBSCN_ENST00000366707.4_Intron|OBSCN_ENST00000570156.2_Intron|OBSCN_ENST00000366709.4_Nonsense_Mutation_p.R3643*|OBSCN_ENST00000422127.1_Intron	NM_052843.3	NP_443075.3	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	7545	Protein kinase 1.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				ACTGGGTCCCCGAGGCCCTCT	0.687													17	29					0	0	1	0	0	T	228548163	C	T	228548163	4	4	317	1	0	0	0	0	0	1	0	0	10860	644	23	1	19888	1	OBSCN	1	228548163	Nonsense_Mutation	SNP	C	TCGA-HT-A5RC-01A-11D-A289-08	76265776	228548163	20702458	10	30214											
HADHA	3030	broad.mit.edu	37	2	26457128	26457128	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr2:26457128A>G	ENST00000380649.3	-	5	539	c.410T>C	c.(409-411)aTt>aCt	p.I137T	HADHA_ENST00000457468.2_Missense_Mutation_p.I50T|HADHA_ENST00000461025.1_5'UTR	NM_000182.4	NP_000173.2	P40939	ECHA_HUMAN	hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit	137					fatty acid beta-oxidation	fatty acid beta-oxidation multienzyme complex|mitochondrial nucleoid|nucleolus	3-hydroxyacyl-CoA dehydrogenase activity|acetyl-CoA C-acetyltransferase activity|coenzyme binding|enoyl-CoA hydratase activity|long-chain-3-hydroxyacyl-CoA dehydrogenase activity|protein binding			autonomic_ganglia(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(4)|skin(1)	30	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				NADH(DB00157)	GGCAGCCACAATAGGCTTTGT	0.443													21	42					0	0	1	0	0	G	26457128	A	G	26457128	3	3	317	1	0	0	0	0	1	0	0	0	6984	101	4	3	1945	3	HADHA	2	26457128	Missense_Mutation	SNP	A	TCGA-HT-A5RC-01A-11D-A289-08		26457128	216742245	11	30215											
MYEOV2	150678	broad.mit.edu	37	2	241073371	241073371	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr2:241073371C>T	ENST00000307266.3	-	2	207	c.208G>A	c.(208-210)Gtt>Att	p.V70I	MYEOV2_ENST00000607357.1_Missense_Mutation_p.V39I|MYEOV2_ENST00000489698.1_5'UTR	NM_138336.1	NP_612209.1	Q8WXC6	MYOV2_HUMAN	myeloma overexpressed 2	39								p.V70F(1)		breast(1)|lung(5)|pancreas(1)	7		all_epithelial(40;1.56e-11)|Breast(86;0.0002)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;3.81e-30)|all cancers(36;1.1e-27)|OV - Ovarian serous cystadenocarcinoma(60;2.74e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;8.54e-06)|Lung(119;0.00361)|LUSC - Lung squamous cell carcinoma(224;0.0153)|Colorectal(34;0.0202)|COAD - Colon adenocarcinoma(134;0.143)		TCTGCATGAACGGCCTTTTCA	0.483													33	84					0	0	1	0	0	T	241073371	C	T	241073371	3	4	317	1	0	0	0	0	1	0	0	0	10074	536	19	1	570	1	MYEOV2	2	241073371	Missense_Mutation	SNP	C	TCGA-HT-A5RC-01A-11D-A289-08	214616243	241073371	2126002	12	30216											
LMCD1	29995	broad.mit.edu	37	3	8590552	8590552	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr3:8590552A>G	ENST00000157600.3	+	4	918	c.686A>G	c.(685-687)aAc>aGc	p.N229S	LMCD1-AS1_ENST00000439407.1_RNA|LMCD1_ENST00000454244.1_Missense_Mutation_p.N156S|LMCD1_ENST00000535732.1_Missense_Mutation_p.N229S|LMCD1_ENST00000397386.3_Missense_Mutation_p.N117S	NM_014583.2	NP_055398.1	Q9NZU5	LMCD1_HUMAN	LIM and cysteine-rich domains 1	229					positive regulation of calcineurin-NFAT signaling pathway|regulation of cardiac muscle hypertrophy|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus	transcription corepressor activity|zinc ion binding			breast(2)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)	16				OV - Ovarian serous cystadenocarcinoma(96;0.124)		GCTACCACCAACGGCAGTCTC	0.612													16	30					0	0	1	0	0	G	8590552	A	G	8590552	3	3	317	1	0	0	0	0	1	0	0	0	8885	43	2	3	700	3	LMCD1	3	8590552	Missense_Mutation	SNP	A	TCGA-HT-A5RC-01A-11D-A289-08		8590552	189431878	13	30217											
SCN5A	6331	broad.mit.edu	37	3	38674720	38674720	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr3:38674720G>A	ENST00000413689.1	-	2	272	c.79C>T	c.(79-81)Cgc>Tgc	p.R27C	SCN5A_ENST00000414099.2_Missense_Mutation_p.R27C|SCN5A_ENST00000425664.1_Missense_Mutation_p.R27C|SCN5A_ENST00000333535.4_Missense_Mutation_p.R27C|SCN5A_ENST00000451551.2_Missense_Mutation_p.R27C|SCN5A_ENST00000455624.2_Missense_Mutation_p.R27C|SCN5A_ENST00000423572.2_Missense_Mutation_p.R27C|SCN5A_ENST00000449557.2_Missense_Mutation_p.R27C|SCN5A_ENST00000443581.1_Missense_Mutation_p.R27C|SCN5A_ENST00000450102.2_Missense_Mutation_p.R27C	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	27			R -> H (in BRS1).		blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	TCTGCCATGCGCTTCTCGATG	0.647													19	45					0	0	1	0	0	A	38674720	G	A	38674720	3	1	317	1	0	0	0	0	1	0	0	0	13976	1087	38	1	6175	1	SCN5A	3	38674720	Missense_Mutation	SNP	G	TCGA-HT-A5RC-01A-11D-A289-08	30084168	38674720	159347710	14	30218											
COL7A1	1294	broad.mit.edu	37	3	48629342	48629342	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr3:48629342C>T	ENST00000328333.8	-	10	1453	c.1346G>A	c.(1345-1347)cGg>cAg	p.R449Q	COL7A1_ENST00000454817.1_Missense_Mutation_p.R449Q	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	449	Fibronectin type-III 3.|Nonhelical region (NC1).				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		AGTCTCACGCCGCCATTCCAA	0.632													99	77					0	0	1	0	0	T	48629342	C	T	48629342	3	4	317	1	0	0	0	0	1	0	0	0	3727	652	23	1	7924	1	COL7A1	3	48629342	Missense_Mutation	SNP	C	TCGA-HT-A5RC-01A-11D-A289-08	9954622	48629342	149393088	15	30219											
ITIH1	3697	broad.mit.edu	37	3	52824844	52824844	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr3:52824844C>T	ENST00000273283.2	+	20	2425	c.2401C>T	c.(2401-2403)Cga>Tga	p.R801*	ITIH1_ENST00000405128.3_Nonsense_Mutation_p.R167*|ITIH1_ENST00000537050.1_Nonsense_Mutation_p.R513*|ITIH1_ENST00000542827.1_3'UTR|ITIH1_ENST00000540715.1_Nonsense_Mutation_p.R659*	NM_002215.3	NP_002206.2	P19827	ITIH1_HUMAN	inter-alpha-trypsin inhibitor heavy chain 1	801	Hyaluronan-binding.				hyaluronan metabolic process|leukocyte activation	extracellular region	calcium ion binding|serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	52				BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)		TGTTTTGCACCGAGTGTGGAA	0.612													7	224					0	0	1	0	0	T	52824844	C	T	52824844	4	4	317	1	0	0	0	0	0	1	0	0	7947	644	23	1	2479	1	ITIH1	3	52824844	Nonsense_Mutation	SNP	C	TCGA-HT-A5RC-01A-11D-A289-08	4195502	52824844	145197586	16	30220											
STXBP5L	9515	broad.mit.edu	37	3	121097685	121097685	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr3:121097685G>T	ENST00000273666.6	+	22	2642	c.2371G>T	c.(2371-2373)Gcc>Tcc	p.A791S	STXBP5L_ENST00000471454.1_Missense_Mutation_p.A767S|STXBP5L_ENST00000497029.1_Intron|STXBP5L_ENST00000472879.1_Missense_Mutation_p.A767S|STXBP5L_ENST00000492541.1_Missense_Mutation_p.A791S	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	791					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		ATTTCGAAAGGCCCAGTCAGC	0.388													15	29					4.7546e-09	4.80465e-09	1	1	0	T	121097685	G	T	121097685	3	4	317	1	0	0	0	0	1	0	0	0	15413	1203	42	5	2453	5	STXBP5L	3	121097685	Missense_Mutation	SNP	G	TCGA-HT-A5RC-01A-11D-A289-08	68272841	121097685	76924745	17	30221											
MFI2	4241	broad.mit.edu	37	3	196730813	196730813	+	Missense_Mutation	SNP	G	G	A	rs143354088		TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr3:196730813G>A	ENST00000296350.5	-	15	2209	c.2096C>T	c.(2095-2097)gCg>gTg	p.A699V	MFI2-AS1_ENST00000415244.1_RNA|MFI2-AS1_ENST00000424769.1_RNA|MFI2-AS1_ENST00000414354.1_RNA|MFI2-AS1_ENST00000437064.1_RNA	NM_005929.5	NP_005920.2	P08582	TRFM_HUMAN	antigen p97 (melanoma associated) identified by monoclonal antibodies 133.2 and 96.5	699	Transferrin-like 2.				cellular iron ion homeostasis|iron ion transport	anchored to membrane|extracellular region|integral to plasma membrane	ferric iron binding|protein binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(1)	20	all_cancers(143;3.95e-09)|Ovarian(172;0.0634)|Breast(254;0.0838)		Epithelial(36;4.55e-24)|all cancers(36;2.87e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00536)		TTCCAGCGCCGCCACGTAGTC	0.647													94	178					0	0	1	0	0	A	196730813	G	A	196730813	3	1	317	1	0	0	0	0	1	0	0	0	9572	1087	38	1	128	1	MFI2	3	196730813	Missense_Mutation	SNP	G	TCGA-HT-A5RC-01A-11D-A289-08	75633128	196730813	1291617	18	30222											
UGT2B7	7364	broad.mit.edu	37	4	69972927	69972927	+	Missense_Mutation	SNP	C	C	A			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr4:69972927C>A	ENST00000305231.7	+	4	1083	c.1037C>A	c.(1036-1038)aCc>aAc	p.T346N	UGT2B7_ENST00000509763.1_3'UTR|UGT2B7_ENST00000508661.1_Missense_Mutation_p.T346N	NM_001074.2	NP_001065.2	P16662	UD2B7_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B7	346					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						AAACCAGATACCTTAGGTCTC	0.358													29	91					9.80977e-26	1.02363e-25	1	1	0	A	69972927	C	A	69972927	3	1	317	1	0	0	0	0	1	0	0	0	17022	507	18	5	1051	5	UGT2B7	4	69972927	Missense_Mutation	SNP	C	TCGA-HT-A5RC-01A-11D-A289-08		69972927	121181349	19	30223											
BMP3	651	broad.mit.edu	37	4	81967784	81967784	+	Silent	SNP	C	C	T			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr4:81967784C>T	ENST00000282701.2	+	2	1529	c.1209C>T	c.(1207-1209)tgC>tgT	p.C403C		NM_001201.2	NP_001192.2	P12645	BMP3_HUMAN	bone morphogenetic protein 3	403					cartilage development|cell differentiation|cell-cell signaling|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	29						CTGGAGCATGCCAGTTCCCCA	0.448													5	217					0	0	1	0	0	T	81967784	C	T	81967784	2	4	317	1	0	0	0	0	0	0	0	1	1460	747	26	2		2	BMP3	4	81967784	Silent	SNP	C	TCGA-HT-A5RC-01A-11D-A289-08	11994857	81967784	109186492	20	30224											
PRDM9	56979	broad.mit.edu	37	5	23509638	23509638	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr5:23509638G>T	ENST00000296682.3	+	3	311	c.129G>T	c.(127-129)atG>atT	p.M43I		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	43	KRAB-related.				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						GGGCAGAGATGGGAGACTGGG	0.433										HNSCC(3;0.000094)			6	165					5.9392e-07	5.9392e-07	1	1	0	T	23509638	G	T	23509638	3	4	317	1	0	0	0	0	1	0	0	0	12515	1348	47	5	135	5	PRDM9	5	23509638	Missense_Mutation	SNP	G	TCGA-HT-A5RC-01A-11D-A289-08		23509638	157405622	21	30225											
MTMR12	54545	broad.mit.edu	37	5	32235068	32235068	+	Splice_Site	SNP	C	C	T			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr5:32235068C>T	ENST00000382142.3	-	14	1682	c.1512G>A	c.(1510-1512)atG>atA	p.M504I	MTMR12_ENST00000264934.5_Intron|MTMR12_ENST00000280285.5_Splice_Site_p.M504I	NM_001040446.1	NP_001035536.1	Q9C0I1	MTMRC_HUMAN	myotubularin related protein 12	504	Interaction with MTM1.|Myotubularin phosphatase.					cytoplasm	phosphatase activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						GGACTCTTACCATGTTAGTAT	0.378													13	33					0	0	1	0	0	T	32235068	C	T	32235068	5	4	317	1	0	0	0	0	0	0	1	0	9989	608	21	2	743	2	MTMR12	5	32235068	Splice_Site	SNP	C	TCGA-HT-A5RC-01A-11D-A289-08	8725430	32235068	148680192	22	30226											
ABLIM3	22885	broad.mit.edu	37	5	148622095	148622095	+	Missense_Mutation	SNP	C	C	T	rs139404389	byFrequency	TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr5:148622095C>T	ENST00000506113.1	+	14	1827	c.1345C>T	c.(1345-1347)Cgg>Tgg	p.R449W	ABLIM3_ENST00000326685.7_Missense_Mutation_p.R354W|ABLIM3_ENST00000356541.3_Intron|ABLIM3_ENST00000309868.7_Missense_Mutation_p.R449W|RP11-331K21.1_ENST00000512647.2_RNA|ABLIM3_ENST00000508983.1_Missense_Mutation_p.R416W|ABLIM3_ENST00000504238.1_Intron|RP11-331K21.1_ENST00000522685.1_RNA|AC012613.2_ENST00000523176.1_RNA			O94929	ABLM3_HUMAN	actin binding LIM protein family, member 3	449					axon guidance|cytoskeleton organization	cytoplasm	actin binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GATCTACAAACGGCATGGTAT	0.572													12	130					0	0	1	0	0	T	148622095	C	T	148622095	3	4	317	1	0	0	0	0	1	0	0	0	96	527	19	1	1399	1	ABLIM3	5	148622095	Missense_Mutation	SNP	C	TCGA-HT-A5RC-01A-11D-A289-08	116387027	148622095	32293165	23	30227											
ATP10B	23120	broad.mit.edu	37	5	160039781	160039781	+	Silent	SNP	G	G	A			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr5:160039781G>A	ENST00000327245.5	-	18	3651	c.2805C>T	c.(2803-2805)acC>acT	p.T935T		NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	935					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AAACAGTGTCGGTCTGATTTA	0.493													12	50					0	0	1	0	0	A	160039781	G	A	160039781	2	1	317	1	0	0	0	0	0	0	0	1	1116	1103	39	1		1	ATP10B	5	160039781	Silent	SNP	G	TCGA-HT-A5RC-01A-11D-A289-08	11417686	160039781	20875479	24	30228											
RREB1	6239	broad.mit.edu	37	6	7229901	7229901	+	Silent	SNP	G	G	C			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr6:7229901G>C	ENST00000379938.2	+	10	2106	c.1569G>C	c.(1567-1569)acG>acC	p.T523T	RREB1_ENST00000379933.3_Silent_p.T523T|RREB1_ENST00000334984.6_Silent_p.T523T|RREB1_ENST00000349384.6_Silent_p.T523T	NM_001003699.3|NM_001003700.1	NP_001003699.1|NP_001003700.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	523	Pro-rich.				multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				CCACCTCCACGCCCCCGCCTC	0.687													9	103					0	0	1	0	0	C	7229901	G	C	7229901	2	2	317	1	0	0	0	0	0	0	0	1	13731	1074	38	5		5	RREB1	6	7229901	Silent	SNP	G	TCGA-HT-A5RC-01A-11D-A289-08		7229901	163885166	25	30229											
STK19	8859	broad.mit.edu	37	6	31939829	31939830	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr6:31939829_31939830insA	ENST00000375331.2	+	1	222_223	c.56_57insA	c.(55-60)gcaaacfs	p.N20fs	DXO_ENST00000478221.1_5'UTR|DXO_ENST00000337523.5_5'UTR|DXO_ENST00000375349.3_5'UTR|STK19_ENST00000375333.2_Frame_Shift_Ins_p.N20fs	NM_004197.1	NP_004188.1	P49842	STK19_HUMAN	serine/threonine kinase 19	20						nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			skin(5)|upper_aerodigestive_tract(2)	7						CAGTGGCGGGCAAACCCCTCCC	0.634													8	213	---	---	---	---						A	31939830	-	A	31939829	7	5	317	1	0	1	1	0	0	0	0	0	15348	710	25	0	58	0	STK19	6	31939829	Frame_Shift_Ins	INS	-	TCGA-HT-A5RC-01A-11D-A289-08	24709928	31939829	139175238	26	30230											
EGFL8	80864	broad.mit.edu	37	6	32135153	32135153	+	Missense_Mutation	SNP	G	G	T	rs149576421		TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr6:32135153G>T	ENST00000395512.1	+	7	733	c.628G>T	c.(628-630)Gct>Tct	p.A210S	PPT2-EGFL8_ENST00000422437.1_3'UTR|EGFL8_ENST00000333845.6_Missense_Mutation_p.A210S			Q99944	EGFL8_HUMAN	EGF-like-domain, multiple 8	210						extracellular region|integral to membrane	calcium ion binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|urinary_tract(1)	10						AGATGAGCGCGCTCTGAAGCA	0.652													36	44					3.76114e-14	3.84116e-14	1	1	0	T	32135153	G	T	32135153	3	4	317	1	0	0	0	0	1	0	0	0	4991	1087	38	5	650	5	EGFL8	6	32135153	Missense_Mutation	SNP	G	TCGA-HT-A5RC-01A-11D-A289-08	195324	32135153	138979914	27	30231											
PPP2R5D	5528	broad.mit.edu	37	6	42975186	42975186	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr6:42975186C>T	ENST00000485511.1	+	6	847	c.668C>T	c.(667-669)tCt>tTt	p.S223F	PPP2R5D_ENST00000394110.3_Missense_Mutation_p.S191F|PPP2R5D_ENST00000472118.1_Missense_Mutation_p.S215F|PPP2R5D_ENST00000461010.1_Missense_Mutation_p.S117F	NM_001270476.1|NM_006245.3	NP_001257405.1|NP_006236.1	Q14738	2A5D_HUMAN	protein phosphatase 2, regulatory subunit B', delta	223					nervous system development|signal transduction	cytoplasm|nucleus|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	25			Colorectal(64;0.00237)|all cancers(41;0.00411)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0664)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			TTCCTTGAGTCTCCTGATTTC	0.512													45	82					0	0	1	0	0	T	42975186	C	T	42975186	3	4	317	1	0	0	0	0	1	0	0	0	12444	913	32	2	690	2	PPP2R5D	6	42975186	Missense_Mutation	SNP	C	TCGA-HT-A5RC-01A-11D-A289-08	10840033	42975186	128139881	28	30232											
MEP1A	4224	broad.mit.edu	37	6	46800871	46800871	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr6:46800871G>A	ENST00000230588.4	+	11	1214	c.1205G>A	c.(1204-1206)cGc>cAc	p.R402H		NM_005588.2	NP_005579.2	Q16819	MEP1A_HUMAN	meprin A, alpha (PABA peptide hydrolase)	402	MAM.				digestion|proteolysis	extracellular space|integral to plasma membrane|soluble fraction	metalloendopeptidase activity|zinc ion binding	p.R402H(1)		NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42			Lung(136;0.192)			CAGAAGTTTCGCTACCTTTTC	0.507													34	73					0	0	1	0	0	A	46800871	G	A	46800871	3	1	317	1	0	0	0	0	1	0	0	0	9525	1087	38	1	1247	1	MEP1A	6	46800871	Missense_Mutation	SNP	G	TCGA-HT-A5RC-01A-11D-A289-08	3825685	46800871	124314196	29	30233											
EEF1A1	1915	broad.mit.edu	37	6	74228912	74228914	+	In_Frame_Del	DEL	CAC	CAC	-			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr6:74228912_74228914delCAC	ENST00000316292.9	-	3	1353_1355	c.362_364delGTG	c.(361-366)ggtgaa>gaa	p.G121del	EEF1A1_ENST00000491404.1_5'UTR|EEF1A1_ENST00000331523.2_In_Frame_Del_p.G121del|EEF1A1_ENST00000309268.6_In_Frame_Del_p.G121del	NM_001402.5	NP_001393.1	P68104	EF1A1_HUMAN	eukaryotic translation elongation factor 1 alpha 1	121						cytosol|eukaryotic translation elongation factor 1 complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|prostate(2)|skin(3)	18						GCTTCAAATTCACCAACACCAGC	0.448											OREG0003891	type=REGULATORY REGION|Gene=EEF1A1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	11	31	---	---	---	---						-	74228914	CAC	-	74228912	7	5	317	1	0	1	0	1	0	0	0	0	4949	835	29	0	1044	0	EEF1A1	6	74228912	In_Frame_Del	DEL	CAC	TCGA-HT-A5RC-01A-11D-A289-08	27428041	74228912	96886155	30	30234											
TIAM2	26230	broad.mit.edu	37	6	155578065	155578065	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr6:155578065C>G	ENST00000461783.3	+	29	6189	c.4916C>G	c.(4915-4917)gCc>gGc	p.A1639G	TIAM2_ENST00000456144.1_Missense_Mutation_p.A1668G|TIAM2_ENST00000360366.4_Missense_Mutation_p.A1663G|TIAM2_ENST00000529824.2_Missense_Mutation_p.A1668G|TIAM2_ENST00000528391.2_Missense_Mutation_p.A983G|TIAM2_ENST00000275246.7_Missense_Mutation_p.A564G|TIAM2_ENST00000456877.2_Missense_Mutation_p.A951G|TIAM2_ENST00000318981.5_Missense_Mutation_p.A1639G|TIAM2_ENST00000367174.2_Missense_Mutation_p.A1015G			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	1639				A -> T (in Ref. 7; BAC86170).	apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		AAACGAAAAGCCAACAGCACC	0.567													23	31					0	0	1	0	0	G	155578065	C	G	155578065	3	3	317	1	0	0	0	0	1	0	0	0	15951	739	26	5	5010	5	TIAM2	6	155578065	Missense_Mutation	SNP	C	TCGA-HT-A5RC-01A-11D-A289-08	81349153	155578065	15537002	31	30235											
GLI3	2737	broad.mit.edu	37	7	42006178	42006178	+	Silent	SNP	G	G	A			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr7:42006178G>A	ENST00000395925.3	-	15	2577	c.2493C>T	c.(2491-2493)agC>agT	p.S831S	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	831					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.S831S(1)		NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						CAGAGAGGTCGCTTCTGCCCG	0.602									Pallister-Hall syndrome;Greig Cephalopolysyndactyly				46	138					0	0	1	0	0	A	42006178	G	A	42006178	2	1	317	1	0	0	0	0	0	0	0	1	6481	1078	38	1		1	GLI3	7	42006178	Silent	SNP	G	TCGA-HT-A5RC-01A-11D-A289-08		42006178	117132485	32	30236											
EGFR	1956	broad.mit.edu	37	7	55233043	55233043	+	Missense_Mutation	SNP	G	G	T	rs139236063		TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr7:55233043G>T	ENST00000275493.2	+	15	1970	c.1793G>T	c.(1792-1794)gGa>gTa	p.G598V	EGFR_ENST00000454757.2_Missense_Mutation_p.G545V|EGFR_ENST00000442591.1_Missense_Mutation_p.G598V|EGFR_ENST00000342916.3_Missense_Mutation_p.G598V|EGFR_ENST00000455089.1_Missense_Mutation_p.G553V|EGFR_ENST00000344576.2_Missense_Mutation_p.G598V	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	598					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.G598V(15)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	TGCCCGGCAGGAGTCATGGGA	0.567		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			1305	1732					1.82951e-191	1.95147e-191	1	1	0	T	55233043	G	T	55233043	3	4	317	1	0	0	0	0	1	0	0	0	4993	1174	41	5	1862	5	EGFR	7	55233043	Missense_Mutation	SNP	G	TCGA-HT-A5RC-01A-11D-A289-08	13226865	55233043	103905620	33	30237											
ZAN	7455	broad.mit.edu	37	7	100349991	100349991	+	RNA	SNP	T	T	C			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr7:100349991T>C	ENST00000542585.1	+	0	2411				ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546292.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		p.S755P(5)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			ACCCACCATCTCCCCAGAAAA	0.517													10	172					0	0	1	0	0	C	100349991	T	C	100349991	1	2	317	0	1	0	0	0	0	0	0	0	17573	1551	54	3		3	ZAN	7	100349991	RNA	SNP	T	TCGA-HT-A5RC-01A-11D-A289-08	45116948	100349991	58788672	34	30238											
PUS7	54517	broad.mit.edu	37	7	105142878	105142878	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr7:105142878T>C	ENST00000356362.2	-	5	933	c.719A>G	c.(718-720)aAg>aGg	p.K240R	PUS7_ENST00000469408.1_Missense_Mutation_p.K240R	NM_019042.3	NP_061915.2	Q96PZ0	PUS7_HUMAN	pseudouridylate synthase 7 homolog (S. cerevisiae)	240					pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|pancreas(1)|skin(1)	23						TGCCAAAGCCTTTTTCCCAGC	0.537													4	171					0	0	1	0	0	C	105142878	T	C	105142878	3	2	317	1	0	0	0	0	1	0	0	0	12885	1609	56	3	1314	3	PUS7	7	105142878	Missense_Mutation	SNP	T	TCGA-HT-A5RC-01A-11D-A289-08	4792887	105142878	53995785	35	30239											
SLC13A1	6561	broad.mit.edu	37	7	122759134	122759134	+	Splice_Site	SNP	C	C	T			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr7:122759134C>T	ENST00000194130.2	-	13	1552		c.e13+1		SLC13A1_ENST00000539873.1_Splice_Site	NM_022444.3	NP_071889.2	Q9BZW2	S13A1_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 1							integral to membrane|plasma membrane	sodium:sulfate symporter activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	45					Succinic acid(DB00139)	GAGATACTCACCAATGGAGAT	0.383													10	45					0	0	1	0	0	T	122759134	C	T	122759134	5	4	317	1	0	0	0	0	0	0	1	0	14446	521	18	2	286	2	SLC13A1	7	122759134	Splice_Site	SNP	C	TCGA-HT-A5RC-01A-11D-A289-08	17616256	122759134	36379529	36	30240											
DLC1	10395	broad.mit.edu	37	8	12957624	12957624	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr8:12957624C>G	ENST00000276297.4	-	9	2631	c.2222G>C	c.(2221-2223)aGc>aCc	p.S741T	DLC1_ENST00000358919.2_Missense_Mutation_p.S304T|DLC1_ENST00000520226.1_Missense_Mutation_p.S230T|DLC1_ENST00000512044.2_Missense_Mutation_p.S338T	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1	741	Poly-Ser.				actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						GCTGCTGCTGCTGGTCTGCGT	0.627													4	62					0	0	1	0	0	G	12957624	C	G	12957624	3	3	317	1	0	0	0	0	1	0	0	0	4578	797	28	4	2404	4	DLC1	8	12957624	Missense_Mutation	SNP	C	TCGA-HT-A5RC-01A-11D-A289-08		12957624	133406398	37	30241											
ZHX1	11244	broad.mit.edu	37	8	124267666	124267666	+	Missense_Mutation	SNP	G	G	A	rs35951597	byFrequency	TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr8:124267666G>A	ENST00000395571.3	-	3	1138	c.521C>T	c.(520-522)tCg>tTg	p.S174L	ZHX1_ENST00000522655.1_Missense_Mutation_p.S174L|ZHX1-C8ORF76_ENST00000357082.4_Intron|ZHX1_ENST00000297857.2_Missense_Mutation_p.S174L	NM_001017926.2|NM_007222.4	NP_001017926.1|NP_009153.3	Q9UKY1	ZHX1_HUMAN	zinc fingers and homeoboxes 1	174					negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		STAD - Stomach adenocarcinoma(47;0.00527)			AGATATTCCCGAAGAAGAAAC	0.343													14	59					0	0	1	0	0	A	124267666	G	A	124267666	3	1	317	1	0	0	0	0	1	0	0	0	17733	1059	37	1	2104	1	ZHX1	8	124267666	Missense_Mutation	SNP	G	TCGA-HT-A5RC-01A-11D-A289-08	111310042	124267666	22096356	38	30242											
PPP3R2	5535	broad.mit.edu	37	9	104356877	104356877	+	Silent	SNP	G	G	A			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr9:104356877G>A	ENST00000374806.1	-	1	406	c.336C>T	c.(334-336)aaC>aaT	p.N112N	GRIN3A_ENST00000361820.3_Intron	NM_147180.2	NP_671709.1	Q96LZ3	CANB2_HUMAN	protein phosphatase 3, regulatory subunit B, beta	109	EF-hand 3.						calcium ion binding			breast(1)|endometrium(2)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	22		Acute lymphoblastic leukemia(62;0.0527)			Cyclosporine(DB00091)	AGAGCTCCCCGTTGGAAATGT	0.542													33	68					0	0	1	0	0	A	104356877	G	A	104356877	2	1	317	1	0	0	0	0	0	0	0	1	12450	1136	40	1		1	PPP3R2	9	104356877	Silent	SNP	G	TCGA-HT-A5RC-01A-11D-A289-08		104356877	36856554	39	30243											
DNM1	1759	broad.mit.edu	37	9	130988317	130988317	+	Silent	SNP	G	G	A			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr9:130988317G>A	ENST00000393594.3	+	10	1254	c.1200G>A	c.(1198-1200)acG>acA	p.T400T	DNM1_ENST00000341179.7_Intron|DNM1_ENST00000475805.1_Silent_p.T400T|DNM1_ENST00000372923.3_Intron|DNM1_ENST00000486160.1_Silent_p.T400T			Q05193	DYN1_HUMAN	dynamin 1	400					receptor-mediated endocytosis	microtubule	GTP binding|GTPase activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(15)|lung(6)|ovary(2)|urinary_tract(2)	32						GGTGCAGGACGGGCCTCTTCA	0.582													12	85					0	0	1	0	0	A	130988317	G	A	130988317	2	1	317	1	0	0	0	0	0	0	0	1	4697	1131	39	1		1	DNM1	9	130988317	Silent	SNP	G	TCGA-HT-A5RC-01A-11D-A289-08	26631440	130988317	10225114	40	30244											
CALML3	810	broad.mit.edu	37	10	5567140	5567140	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr10:5567140G>A	ENST00000315238.1	+	1	217	c.92G>A	c.(91-93)cGc>cAc	p.R31H	CALML3-AS1_ENST00000545372.1_RNA|CALML3-AS1_ENST00000542093.1_RNA|RP11-116G8.5_ENST00000442008.2_RNA	NM_005185.2	NP_005176.1	P27482	CALL3_HUMAN	calmodulin-like 3	31	EF-hand 1.						calcium ion binding			endometrium(3)|lung(2)	5						ATCACCACCCGCGAGCTGGGC	0.647													18	22					0	0	1	0	0	A	5567140	G	A	5567140	3	1	317	1	0	0	0	0	1	0	0	0	2605	1087	38	1	94	1	CALML3	10	5567140	Missense_Mutation	SNP	G	TCGA-HT-A5RC-01A-11D-A289-08		5567140	129967607	41	30245											
TRDMT1	1787	broad.mit.edu	37	10	17204201	17204201	+	Missense_Mutation	SNP	G	G	C	rs143074583		TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr10:17204201G>C	ENST00000377799.3	-	4	334	c.287C>G	c.(286-288)aCg>aGg	p.T96R	TRDMT1_ENST00000488990.1_Intron|TRDMT1_ENST00000452380.2_5'UTR|TRDMT1_ENST00000412821.3_Intron|TRDMT1_ENST00000358282.7_Intron|TRDMT1_ENST00000351358.4_Intron|TRDMT1_ENST00000457442.2_Missense_Mutation_p.T37R|TRDMT1_ENST00000377766.5_Intron	NM_004412.5	NP_004403.1	O14717	TRDMT_HUMAN	tRNA aspartic acid methyltransferase 1	96					tRNA processing	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|RNA binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(4)|ovary(1)|prostate(1)	18						GAAGCTATTCGTCCTTGAATC	0.343													33	34					0	0	1	0	0	C	17204201	G	C	17204201	3	2	317	1	0	0	0	0	1	0	0	0	16528	1145	40	5	920	5	TRDMT1	10	17204201	Missense_Mutation	SNP	G	TCGA-HT-A5RC-01A-11D-A289-08	11637061	17204201	118330546	42	30246											
CTNNA3	29119	broad.mit.edu	37	10	68040315	68040315	+	Missense_Mutation	SNP	A	A	C			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr10:68040315A>C	ENST00000433211.2	-	13	1971	c.1797T>G	c.(1795-1797)aaT>aaG	p.N599K	CTNNA3_ENST00000373744.4_Missense_Mutation_p.N599K	NM_013266.2	NP_037398.2	Q9UI47	CTNA3_HUMAN	catenin (cadherin-associated protein), alpha 3						cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						CATCCAACACATTCAATGAGC	0.338													24	21					0	0	1	0	0	C	68040315	A	C	68040315	3	2	317	1	0	0	0	0	1	0	0	0	4038	214	8	4	914	4	CTNNA3	10	68040315	Missense_Mutation	SNP	A	TCGA-HT-A5RC-01A-11D-A289-08	50836114	68040315	67494432	43	30247											
KRTAP5-1	387264	broad.mit.edu	37	11	1606265	1606265	+	Missense_Mutation	SNP	G	G	C			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr11:1606265G>C	ENST00000382171.2	-	1	248	c.215C>G	c.(214-216)tCt>tGt	p.S72C	KRTAP5-AS1_ENST00000534077.1_RNA|KRTAP5-AS1_ENST00000524947.1_RNA|KRTAP5-AS1_ENST00000532922.1_RNA|KRTAP5-AS1_ENST00000424148.1_RNA	NM_001005922.1	NP_001005922.1	Q6L8H4	KRA51_HUMAN	keratin associated protein 5-1	72	8 X 4 AA repeats of C-C-X-P.					keratin filament				endometrium(3)|kidney(1)|lung(9)|skin(2)|upper_aerodigestive_tract(1)	16		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		GGAGCCCCCAGAAGAGCCACA	0.677													6	281					0	0	1	0	0	C	1606265	G	C	1606265	3	2	317	1	0	0	0	0	1	0	0	0	8598	942	33	4	625	4	KRTAP5-1	11	1606265	Missense_Mutation	SNP	G	TCGA-HT-A5RC-01A-11D-A289-08		1606265	133400251	44	30248											
OR8J3	81168	broad.mit.edu	37	11	55904472	55904472	+	Silent	SNP	G	G	A			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr11:55904472G>A	ENST00000301529.1	-	1	722	c.723C>T	c.(721-723)tgC>tgT	p.C241C		NM_001004064.1	NP_001004064.1	Q8NGG0	OR8J3_HUMAN	olfactory receptor, family 8, subfamily J, member 3	241					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	59	Esophageal squamous(21;0.00693)					TATGCGAAGCGCAGGTGGAAA	0.388													25	39					0	0	1	0	0	A	55904472	G	A	55904472	2	1	317	1	0	0	0	0	0	0	0	1	11289	1079	38	1		1	OR8J3	11	55904472	Silent	SNP	G	TCGA-HT-A5RC-01A-11D-A289-08	54298207	55904472	79102044	45	30249											
TMPRSS13	84000	broad.mit.edu	37	11	117774318	117774318	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr11:117774318C>T	ENST00000445164.2	-	12	1802	c.1729G>A	c.(1729-1731)Ggt>Agt	p.G577S	TMPRSS13_ENST00000524993.1_Intron|TMPRSS13_ENST00000430170.2_Intron|TMPRSS13_ENST00000528626.1_Intron			Q9BYE2	TMPSD_HUMAN	transmembrane protease, serine 13	572					proteolysis	integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|pancreas(1)|prostate(1)|urinary_tract(1)	20	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.00106)		GGGTCCCCACCTGAGGAAGTT	0.577													6	21					0	0	1	0	0	T	117774318	C	T	117774318	3	4	317	1	0	0	0	0	1	0	0	0	16305	696	24	2		2	TMPRSS13	11	117774318	Missense_Mutation	SNP	C	TCGA-HT-A5RC-01A-11D-A289-08	61869846	117774318	17232198	46	30250											
CD163L1	283316	broad.mit.edu	37	12	7527057	7527057	+	Silent	SNP	G	G	A			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr12:7527057G>A	ENST00000313599.3	-	13	3447	c.3390C>T	c.(3388-3390)gaC>gaT	p.D1130D	CD163L1_ENST00000396630.1_Silent_p.D1130D|CD163L1_ENST00000416109.2_Silent_p.D1140D			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	1130	SRCR 10.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						TGACCCCTGCGTCCTCCTTGT	0.567													44	73					0	0	1	0	0	A	7527057	G	A	7527057	2	1	317	1	0	0	0	0	0	0	0	1	2990	1136	40	1		1	CD163L1	12	7527057	Silent	SNP	G	TCGA-HT-A5RC-01A-11D-A289-08		7527057	126324838	47	30251											
NACA	4666	broad.mit.edu	37	12	57112308	57112308	+	Silent	SNP	A	A	G			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr12:57112308A>G	ENST00000454682.1	-	3	3287	c.3006T>C	c.(3004-3006)acT>acC	p.T1002T	NACA_ENST00000552540.1_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000551793.1_Intron	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN	nascent polypeptide-associated complex alpha subunit	0					interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						TGGGGGATGGAGTAGCTGGAC	0.652			T	BCL6	NHL								7	120					0	0	1	0	0	G	57112308	A	G	57112308	2	3	317	1	0	0	0	0	0	0	0	1	10181	291	11	3		3	NACA	12	57112308	Silent	SNP	A	TCGA-HT-A5RC-01A-11D-A289-08	49585251	57112308	76739587	48	30252											
KERA	11081	broad.mit.edu	37	12	91449551	91449551	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr12:91449551G>T	ENST00000266719.3	-	2	755	c.508C>A	c.(508-510)Ctt>Att	p.L170I		NM_007035.3	NP_008966.1	O60938	KERA_HUMAN	keratocan	170					response to stimulus|visual perception	proteinaceous extracellular matrix				breast(2)|large_intestine(8)|lung(5)|prostate(2)|skin(2)	19						AGGTCAAGAAGGGTCAGGTTC	0.403													42	100					2.77807e-22	2.86768e-22	1	1	0	T	91449551	G	T	91449551	3	4	317	1	0	0	0	0	1	0	0	0	8186	1000	35	4	558	4	KERA	12	91449551	Missense_Mutation	SNP	G	TCGA-HT-A5RC-01A-11D-A289-08	34337243	91449551	42402344	49	30253											
FAM71C	196472	broad.mit.edu	37	12	100043170	100043170	+	Silent	SNP	G	G	A			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr12:100043170G>A	ENST00000324341.1	+	2	1142	c.720G>A	c.(718-720)gaG>gaA	p.E240E	ANKS1B_ENST00000547776.2_Intron|ANKS1B_ENST00000329257.7_Intron|ANKS1B_ENST00000547010.1_Intron	NM_153364.3	NP_699195.1	Q8NEG0	FA71C_HUMAN	family with sequence similarity 71, member C	240										breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(2;0.00733)|Epithelial(2;0.0385)|all cancers(2;0.19)		ATACAATAGAGATATGAATCC	0.413													32	59					0	0	1	0	0	A	100043170	G	A	100043170	2	1	317	1	0	0	0	0	0	0	0	1	5644	933	33	2		2	FAM71C	12	100043170	Silent	SNP	G	TCGA-HT-A5RC-01A-11D-A289-08	8593619	100043170	33808725	50	30254											
HSPA2	3306	broad.mit.edu	37	14	65007730	65007730	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr14:65007730G>A	ENST00000247207.6	+	1	545	c.163G>A	c.(163-165)Gcc>Acc	p.A55T	HSPA2_ENST00000394709.1_Missense_Mutation_p.A55T|HSPA2_ENST00000554883.1_Intron	NM_021979.3	NP_068814.2	P54652	HSP72_HUMAN	heat shock 70kDa protein 2	55					response to unfolded protein|spermatid development	cell surface	ATP binding|unfolded protein binding			breast(1)|endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	22				all cancers(60;0.00515)|OV - Ovarian serous cystadenocarcinoma(108;0.00584)|BRCA - Breast invasive adenocarcinoma(234;0.045)		CATCGGCGACGCCGCCAAGAA	0.597													22	72					0	0	1	0	0	A	65007730	G	A	65007730	3	1	317	1	0	0	0	0	1	0	0	0	7454	1087	38	1	165	1	HSPA2	14	65007730	Missense_Mutation	SNP	G	TCGA-HT-A5RC-01A-11D-A289-08		65007730	42341810	51	30255											
TGM5	9333	broad.mit.edu	37	15	43545044	43545044	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr15:43545044C>G	ENST00000220420.5	-	6	782	c.775G>C	c.(775-777)Gtg>Ctg	p.V259L	TGM5_ENST00000349114.4_Missense_Mutation_p.V177L	NM_201631.3	NP_963925.2	O43548	TGM5_HUMAN	transglutaminase 5	259					epidermis development|peptide cross-linking	cytoplasm	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1)	44		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;4e-07)	L-Glutamine(DB00130)	AGGATGGCCACGCTGCCCGTC	0.567													43	87					0	0	1	0	0	G	43545044	C	G	43545044	3	3	317	1	0	0	0	0	1	0	0	0	15893	536	19	5	1419	5	TGM5	15	43545044	Missense_Mutation	SNP	C	TCGA-HT-A5RC-01A-11D-A289-08		43545044	58986348	52	30256											
ACSBG1	23205	broad.mit.edu	37	15	78466000	78466000	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr15:78466000C>T	ENST00000258873.4	-	13	2229	c.2024G>A	c.(2023-2025)cGg>cAg	p.R675Q	ACSBG1_ENST00000560817.1_Missense_Mutation_p.R433Q|ACSBG1_ENST00000541759.1_Missense_Mutation_p.R433Q	NM_001199377.1|NM_015162.4	NP_001186306.1|NP_055977.3	Q96GR2	ACBG1_HUMAN	acyl-CoA synthetase bubblegum family member 1	675					long-chain fatty acid metabolic process|myelination|very long-chain fatty acid metabolic process	cytoplasmic membrane-bounded vesicle|endoplasmic reticulum|microsome	ATP binding|long-chain fatty acid-CoA ligase activity|very long-chain fatty acid-CoA ligase activity			endometrium(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	37						GTGGTAGGGCCGGGCCGCCGC	0.562													34	48					0	0	1	0	0	T	78466000	C	T	78466000	3	4	317	1	0	0	0	0	1	0	0	0	173	652	23	1	158	1	ACSBG1	15	78466000	Missense_Mutation	SNP	C	TCGA-HT-A5RC-01A-11D-A289-08	34920956	78466000	24065392	53	30257											
LAT	27040	broad.mit.edu	37	16	28996764	28996764	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr16:28996764G>A	ENST00000395456.2	+	1	348	c.26G>A	c.(25-27)tGc>tAc	p.C9Y	RP11-264B17.3_ENST00000569969.1_RNA|LAT_ENST00000454369.2_Missense_Mutation_p.C9Y|LAT_ENST00000354453.4_Missense_Mutation_p.C9Y|LAT_ENST00000566177.1_Missense_Mutation_p.C9Y|LAT_ENST00000563964.1_3'UTR|LAT_ENST00000360872.5_Missense_Mutation_p.C9Y|LAT_ENST00000395461.3_Missense_Mutation_p.C45Y|LAT_ENST00000564277.1_Missense_Mutation_p.C9Y	NM_001014987.1|NM_001014988.1|NM_014387.3	NP_001014987.1|NP_001014988.1|NP_055202.1	O43561	LAT_HUMAN	linker for activation of T cells	9					calcium-mediated signaling|integrin-mediated signaling pathway|mast cell degranulation|platelet activation|Ras protein signal transduction|regulation of T cell activation|T cell receptor signaling pathway	immunological synapse|integral to membrane|intracellular|membrane raft	SH3/SH2 adaptor activity			large_intestine(2)|lung(3)|urinary_tract(1)	6		Hepatocellular(780;0.244)				CTGGTCCCCTGCGTGCTGGGG	0.642													26	52					0	0	1	0	0	A	28996764	G	A	28996764	3	1	317	1	0	0	0	0	1	0	0	0	8683	1319	46	2	140	2	LAT	16	28996764	Missense_Mutation	SNP	G	TCGA-HT-A5RC-01A-11D-A289-08		28996764	61357989	54	30258											
PIK3R6	146850	broad.mit.edu	37	17	8741186	8741186	+	Silent	SNP	C	C	T	rs149242502	by1000genomes	TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr17:8741186C>T	ENST00000311434.9	-	5	431	c.192G>A	c.(190-192)gcG>gcA	p.A64A	PIK3R6_ENST00000434064.2_5'UTR	NM_001010855.2	NP_001010855.1	Q5UE93	PI3R6_HUMAN	phosphoinositide-3-kinase, regulatory subunit 6	64					platelet activation	cytosol											CCTGGCTTTCCGCCTGGAAAA	0.582													27	56					0	0	1	0	0	T	8741186	C	T	8741186	2	4	317	1	0	0	0	0	0	0	0	1	11971	639	23	1		1	PIK3R6	17	8741186	Silent	SNP	C	TCGA-HT-A5RC-01A-11D-A289-08		8741186	72454024	55	30259											
EPN3	55040	broad.mit.edu	37	17	48613860	48613860	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr17:48613860G>A	ENST00000537145.1	+	2	327	c.190G>A	c.(190-192)Gcc>Acc	p.A64T	EPN3_ENST00000268933.3_5'UTR|EPN3_ENST00000541226.1_5'UTR			Q9H201	EPN3_HUMAN	epsin 3	225	ENTH.					clathrin-coated vesicle|nucleus|perinuclear region of cytoplasm	lipid binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;2.88e-09)			CGCCACAGTGGCCCTCAGCCC	0.647													30	61					0	0	1	0	0	A	48613860	G	A	48613860	3	1	317	1	0	0	0	0	1	0	0	0	5215	1218	42	2		2	EPN3	17	48613860	Missense_Mutation	SNP	G	TCGA-HT-A5RC-01A-11D-A289-08	39872674	48613860	32581350	56	30260											
MED13	9969	broad.mit.edu	37	17	60111221	60111221	+	Silent	SNP	C	C	T			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr17:60111221C>T	ENST00000397786.2	-	5	817	c.741G>A	c.(739-741)aaG>aaA	p.K247K		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	247					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						CAGACATCTCCTTCAAGCAAC	0.383													6	55					0	0	1	0	0	T	60111221	C	T	60111221	2	4	317	1	0	0	0	0	0	0	0	1	9480	680	24	2		2	MED13	17	60111221	Silent	SNP	C	TCGA-HT-A5RC-01A-11D-A289-08	11497361	60111221	21083989	57	30261											
SETBP1	26040	broad.mit.edu	37	18	42532027	42532027	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr18:42532027G>A	ENST00000282030.5	+	4	3018	c.2722G>A	c.(2722-2724)Gac>Aac	p.D908N		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	908						nucleus	DNA binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		CATTCCGTCCGACACCAGCAC	0.532									Schinzel-Giedion syndrome				17	33					0	0	1	0	0	A	42532027	G	A	42532027	3	1	317	1	0	0	0	0	1	0	0	0	14183	1058	37	1	2925	1	SETBP1	18	42532027	Missense_Mutation	SNP	G	TCGA-HT-A5RC-01A-11D-A289-08		42532027	35545221	58	30262											
SALL3	27164	broad.mit.edu	37	18	76752248	76752248	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr18:76752248C>T	ENST00000575389.2	+	2	257	c.257C>T	c.(256-258)gCg>gTg	p.A86V	SALL3_ENST00000537592.2_Missense_Mutation_p.A86V|SALL3_ENST00000536229.3_5'UTR			Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	86					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		CACGAGGACGCGCCCGCGCCG	0.726													10	20					0	0	1	0	0	T	76752248	C	T	76752248	3	4	317	1	0	0	0	0	1	0	0	0	13864	768	27	1	263	1	SALL3	18	76752248	Missense_Mutation	SNP	C	TCGA-HT-A5RC-01A-11D-A289-08	34220221	76752248	1325000	59	30263											
HCN2	610	broad.mit.edu	37	19	613254	613254	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr19:613254G>A	ENST00000251287.2	+	6	1644	c.1591G>A	c.(1591-1593)Gtc>Atc	p.V531I		NM_001194.3	NP_001185.3	Q9UL51	HCN2_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 2	531					cell-cell signaling|muscle contraction	voltage-gated potassium channel complex	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity			endometrium(5)|lung(4)	9		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)		GCAGGAGATCGTCAACTTCAA	0.672													17	32					0	0	1	0	0	A	613254	G	A	613254	3	1	317	1	0	0	0	0	1	0	0	0	7038	1145	40	1	1613	1	HCN2	19	613254	Missense_Mutation	SNP	G	TCGA-HT-A5RC-01A-11D-A289-08		613254	58515729	60	30264											
KIAA1683	80726	broad.mit.edu	37	19	18377437	18377437	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr19:18377437C>T	ENST00000392413.4	-	3	1128	c.913G>A	c.(913-915)Gca>Aca	p.A305T	KIAA1683_ENST00000600359.3_Missense_Mutation_p.A259T|KIAA1683_ENST00000600328.3_Missense_Mutation_p.A305T	NM_001145304.1	NP_001138776.1	Q9H0B3	K1683_HUMAN	KIAA1683							mitochondrion				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						CTCGTAACTGCCTGGTCATAC	0.567													41	138					0	0	1	0	0	T	18377437	C	T	18377437	3	4	317	1	0	0	0	0	1	0	0	0	8293	739	26	2	3198	2	KIAA1683	19	18377437	Missense_Mutation	SNP	C	TCGA-HT-A5RC-01A-11D-A289-08	17764183	18377437	40751546	61	30265											
TMEM91	641649	broad.mit.edu	37	19	41889651	41889651	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr19:41889651A>G	ENST00000392002.2	+	4	1052	c.392A>G	c.(391-393)cAg>cGg	p.Q131R	TMEM91_ENST00000542945.1_3'UTR|TMEM91_ENST00000539627.1_3'UTR|TMEM91_ENST00000436170.2_Intron|TMEM91_ENST00000356385.4_3'UTR|TMEM91_ENST00000544232.1_Intron|TMEM91_ENST00000413014.2_Intron|CTC-435M10.3_ENST00000540732.1_Intron|TMEM91_ENST00000604123.1_Intron|CTC-435M10.3_ENST00000604424.1_Intron|TMEM91_ENST00000447302.2_Intron|BCKDHA_ENST00000595085.1_Intron	NM_001098821.1	NP_001092291.1			transmembrane protein 91											lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	5						GGGGACATCCAGGGGGCAGGG	0.706													5	64					0	0	1	0	0	G	41889651	A	G	41889651	3	3	317	1	0	0	0	0	1	0	0	0	16280	188	7	3	466	3	TMEM91	19	41889651	Missense_Mutation	SNP	A	TCGA-HT-A5RC-01A-11D-A289-08	23512214	41889651	17239332	62	30266											
MYH7B	57644	broad.mit.edu	37	20	33568534	33568534	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr20:33568534C>T	ENST00000262873.7	+	6	714	c.622C>T	c.(622-624)Cgc>Tgc	p.R208C	MYH7B_ENST00000481922.1_3'UTR	NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	166	Myosin head-like.					membrane|myosin filament	actin binding|ATP binding|motor activity			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			CGACATGCTGCGCAGTAAGGG	0.652													41	86					0	0	1	0	0	T	33568534	C	T	33568534	3	4	317	1	0	0	0	0	1	0	0	0	10088	768	27	1	644	1	MYH7B	20	33568534	Missense_Mutation	SNP	C	TCGA-HT-A5RC-01A-11D-A289-08		33568534	29456986	63	30267											
BAGE2	85319	broad.mit.edu	37	21	11058353	11058353	+	RNA	SNP	T	T	C	rs79433933	by1000genomes	TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr21:11058353T>C	ENST00000470054.1	-	0	324									B melanoma antigen family, member 2															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)		GAAATCTCTTTATAAAACCTT	0.343													6	87					0	0	1	0	0	C	11058353	T	C	11058353	1	2	317	0	1	0	0	0	0	0	0	0	1290	1769	61	3		3	BAGE2	21	11058353	RNA	SNP	T	TCGA-HT-A5RC-01A-11D-A289-08		11058353	37071542	64	30268											
SYN3	8224	broad.mit.edu	37	22	32937651	32937651	+	Missense_Mutation	SNP	C	C	T	rs141167959		TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr22:32937651C>T	ENST00000358763.2	-	8	1065	c.823G>A	c.(823-825)Gcc>Acc	p.A275T	SYN3_ENST00000332840.5_Missense_Mutation_p.A275T	NM_001135774.1	NP_001129246.1	O14994	SYN3_HUMAN	synapsin III	275	C; actin-binding and synaptic-vesicle binding.				neurotransmitter secretion	cell junction|synaptic vesicle membrane	ATP binding|ligase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						TTGGCCATGGCGACCACGCTG	0.542													15	29					0	0	1	0	0	T	32937651	C	T	32937651	3	4	317	1	0	0	0	0	1	0	0	0	15499	768	27	1	947	1	SYN3	22	32937651	Missense_Mutation	SNP	C	TCGA-HT-A5RC-01A-11D-A289-08		32937651	18366915	65	30269											
TMPRSS6	164656	broad.mit.edu	37	22	37471260	37471260	+	Silent	SNP	G	G	A			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr22:37471260G>A	ENST00000381792.2	-	11	1397	c.1257C>T	c.(1255-1257)gcC>gcT	p.A419A	TMPRSS6_ENST00000346753.3_Silent_p.A428A|TMPRSS6_ENST00000406725.1_Silent_p.A419A|TMPRSS6_ENST00000406856.1_Silent_p.A419A			Q8IU80	TMPS6_HUMAN	transmembrane protease, serine 6	428	CUB 2.				angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis	integral to membrane|intracellular|plasma membrane	serine-type endopeptidase activity			breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						TGGTGATCCCGGCCGTGGCCA	0.652													50	78					0	0	1	0	0	A	37471260	G	A	37471260	2	1	317	1	0	0	0	0	0	0	0	1	16311	1103	39	1		1	TMPRSS6	22	37471260	Silent	SNP	G	TCGA-HT-A5RC-01A-11D-A289-08	4533609	37471260	13833306	66	30270											
CD99	4267	broad.mit.edu	37	X	2656284	2656284	+	Silent	SNP	C	C	T			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chrX:2656284C>T	ENST00000381192.3	+	9	701	c.519C>T	c.(517-519)aaC>aaT	p.N173N	CD99_ENST00000381187.3_Silent_p.N157N	NM_001277710.1|NM_002414.3	NP_001264639.1|NP_002405.1	P14209	CD99_HUMAN	CD99 molecule	173			N -> I (in dbSNP:rs4717).		cell adhesion	cytoplasm|integral to plasma membrane				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)	11						GGAATGCCAACGCAGAGCCAG	0.527													6	219					0	0	1	0	0	T	2656284	C	T	2656284	2	4	317	1	0	0	0	0	0	0	0	1	3072	535	19	1		1	CD99	23	2656284	Silent	SNP	C	TCGA-HT-A5RC-01A-11D-A289-08		2656284	152614276	67	30271											
MID1	4281	broad.mit.edu	37	X	10534972	10534972	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chrX:10534972C>T	ENST00000317552.4	-	2	1016	c.616G>A	c.(616-618)Gat>Aat	p.D206N	MID1_ENST00000380779.1_Missense_Mutation_p.D206N|MID1_ENST00000453318.2_Missense_Mutation_p.D206N|MID1_ENST00000380782.2_Missense_Mutation_p.D206N|MID1_ENST00000380785.1_Missense_Mutation_p.D206N|MID1_ENST00000380787.1_Missense_Mutation_p.D206N|MID1_ENST00000380780.1_Missense_Mutation_p.D206N	NM_000381.3|NM_033289.1	NP_000372.1|NP_150631.1	O15344	TRI18_HUMAN	midline 1 (Opitz/BBB syndrome)	206					microtubule cytoskeleton organization|pattern specification process|positive regulation of stress-activated MAPK cascade	cytoplasm|microtubule|microtubule associated complex|spindle	ligase activity|ubiquitin protein ligase binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	26						ACCTGATGATCGCGGTGCCGC	0.488													25	57					0	0	1	0	0	T	10534972	C	T	10534972	3	4	317	1	0	0	0	0	1	0	0	0	9624	884	31	1	1423	1	MID1	23	10534972	Missense_Mutation	SNP	C	TCGA-HT-A5RC-01A-11D-A289-08	7878688	10534972	144735588	68	30272											
GPR64	10149	broad.mit.edu	37	X	19031906	19031906	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chrX:19031906G>A	ENST00000354791.3	-	15	1190	c.949C>T	c.(949-951)Cat>Tat	p.H317Y	GPR64_ENST00000379876.1_Missense_Mutation_p.H309Y|GPR64_ENST00000340581.3_Missense_Mutation_p.H303Y|GPR64_ENST00000379873.2_Missense_Mutation_p.H333Y|GPR64_ENST00000379869.3_Missense_Mutation_p.H333Y|GPR64_ENST00000357991.3_Missense_Mutation_p.H330Y|GPR64_ENST00000360279.4_Missense_Mutation_p.H311Y|GPR64_ENST00000357544.3_Missense_Mutation_p.H303Y|GPR64_ENST00000356606.4_Missense_Mutation_p.H319Y|GPR64_ENST00000379878.3_Missense_Mutation_p.H317Y			Q8IZP9	GPR64_HUMAN	G protein-coupled receptor 64	333					neuropeptide signaling pathway|spermatogenesis	cytoplasm|integral to plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(18)|stomach(1)|urinary_tract(1)	42	Hepatocellular(33;0.183)					CCGGAGACATGGGTTTGGGGC	0.582													88	168					0	0	1	0	0	A	19031906	G	A	19031906	3	1	317	1	0	0	0	0	1	0	0	0	6745	1348	47	2	2112	2	GPR64	23	19031906	Missense_Mutation	SNP	G	TCGA-HT-A5RC-01A-11D-A289-08	8496934	19031906	136238654	69	30273											
DCAF12L1	139170	broad.mit.edu	37	X	125686253	125686253	+	Silent	SNP	G	G	A			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chrX:125686253G>A	ENST00000371126.1	-	1	581	c.339C>T	c.(337-339)tgC>tgT	p.C113C		NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	113										breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						ACTTGGTGCCGCACACCACCT	0.637													4	124					0	0	1	0	0	A	125686253	G	A	125686253	2	1	317	1	0	0	0	0	0	0	0	1	4288	1079	38	1		1	DCAF12L1	23	125686253	Silent	SNP	G	TCGA-HT-A5RC-01A-11D-A289-08	106654347	125686253	29584307	70	30274											
PNMA5	114824	broad.mit.edu	37	X	152159280	152159280	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chrX:152159280C>T	ENST00000439251.1	-	2	1301	c.863G>A	c.(862-864)cGt>cAt	p.R288H	PNMA5_ENST00000361887.5_Missense_Mutation_p.R288H|PNMA5_ENST00000452693.1_Missense_Mutation_p.R288H|PNMA5_ENST00000535214.1_Missense_Mutation_p.R288H	NM_001103150.1	NP_001096620.1	Q96PV4	PNMA5_HUMAN	paraneoplastic Ma antigen family member 5	288					apoptosis					breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	Acute lymphoblastic leukemia(192;6.56e-05)					ATGTTTCAGACGAATCATGTC	0.562													42	91					0	0	1	0	0	T	152159280	C	T	152159280	3	4	317	1	0	0	0	0	1	0	0	0	12204	536	19	1	487	1	PNMA5	23	152159280	Missense_Mutation	SNP	C	TCGA-HT-A5RC-01A-11D-A289-08	26473027	152159280	3111280	71	30275											
RAVER2	55225	broad.mit.edu	37	1	65268729	65268729	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr1:65268729G>T	ENST00000294428.3	+	6	1254	c.1176G>T	c.(1174-1176)ttG>ttT	p.L392F	RAVER2_ENST00000371072.4_Missense_Mutation_p.L392F|RAVER2_ENST00000430964.2_Missense_Mutation_p.L98F			Q9HCJ3	RAVR2_HUMAN	ribonucleoprotein, PTB-binding 2	392						cytoplasm|nucleus	nucleotide binding|RNA binding	p.L392F(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	24						TTTTACATTTGAATAAAGCAC	0.323													10	54					7.03913e-09	7.51636e-09	1	1	0	T	65268729	G	T	65268729	3	4	318	1	0	0	0	0	1	0	0	0	13147	1281	45	5	1198	5	RAVER2	1	65268729	Missense_Mutation	SNP	G	TCGA-HT-A614-01A-11D-A29Q-08		65268729	183981892	1	30276											
SLC35D1	23169	broad.mit.edu	37	1	67517761	67517761	+	Splice_Site	SNP	G	G	A			TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr1:67517761G>A	ENST00000235345.5	-	4	411	c.326C>T	c.(325-327)aCg>aTg	p.T109M	SLC35D1_ENST00000506472.2_Splice_Site_p.T30M	NM_015139.2	NP_055954.1	Q9NTN3	S35D1_HUMAN	solute carrier family 35 (UDP-GlcA/UDP-GalNAc transporter), member D1	109					chondroitin sulfate biosynthetic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process	integral to endoplasmic reticulum membrane	UDP-glucuronic acid transmembrane transporter activity|UDP-N-acetylgalactosamine transmembrane transporter activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(4)	10					Lorazepam(DB00186)	TAGTGGAAACGTCTAGAAAAT	0.299													22	32					0	0	1	0	0	A	67517761	G	A	67517761	5	1	318	1	0	0	0	0	0	0	1	0	14636	1159	40	1	777	1	SLC35D1	1	67517761	Splice_Site	SNP	G	TCGA-HT-A614-01A-11D-A29Q-08	2249032	67517761	181732860	2	30277											
CRTC2	200186	broad.mit.edu	37	1	153924630	153924630	+	Silent	SNP	C	C	A			TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr1:153924630C>A	ENST00000368633.1	-	10	988	c.861G>T	c.(859-861)ctG>ctT	p.L287L	CRTC2_ENST00000368630.3_Intron	NM_181715.2	NP_859066.1	Q53ET0	CRTC2_HUMAN	CREB regulated transcription coactivator 2	287					interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding			NS(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	27	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GGGGGGTGGGCAGTGGTGGGG	0.612													4	97					0.00909568	0.00924238	1	1	0	A	153924630	C	A	153924630	2	1	318	1	0	0	0	0	0	0	0	1	3923	697	25	5		5	CRTC2	1	153924630	Silent	SNP	C	TCGA-HT-A614-01A-11D-A29Q-08	86406869	153924630	95325991	3	30278											
AQP10	89872	broad.mit.edu	37	1	154295506	154295506	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr1:154295506G>A	ENST00000484864.1	+	3	317	c.281G>A	c.(280-282)cGc>cAc	p.R94H	AQP10_ENST00000355197.4_3'UTR|AQP10_ENST00000324978.3_Missense_Mutation_p.R94H			Q96PS8	AQP10_HUMAN	aquaporin 10	94					response to toxin|transmembrane transport|water transport	integral to membrane|plasma membrane	transporter activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|stomach(2)|upper_aerodigestive_tract(1)	23	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			ATCGTTGGACGCCTCCCCTGG	0.532													9	82					0	0	1	0	0	A	154295506	G	A	154295506	3	1	318	1	0	0	0	0	1	0	0	0	819	1087	38	1	291	1	AQP10	1	154295506	Missense_Mutation	SNP	G	TCGA-HT-A614-01A-11D-A29Q-08	370876	154295506	94955115	4	30279											
APOB	338	broad.mit.edu	37	2	21230419	21230419	+	Silent	SNP	G	G	A	rs72653101		TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr2:21230419G>A	ENST00000233242.1	-	26	9448	c.9321C>T	c.(9319-9321)aaC>aaT	p.N3107N		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	3107					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TAATGTTCTCGTTGTTTCCAG	0.403													33	46					0	0	1	0	0	A	21230419	G	A	21230419	2	1	318	1	0	0	0	0	0	0	0	1	782	1136	40	1		1	APOB	2	21230419	Silent	SNP	G	TCGA-HT-A614-01A-11D-A29Q-08		21230419	221968954	5	30280											
WDR54	84058	broad.mit.edu	37	2	74652340	74652340	+	Silent	SNP	G	G	A			TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr2:74652340G>A	ENST00000348227.4	+	8	862	c.774G>A	c.(772-774)ctG>ctA	p.L258L	WDR54_ENST00000461531.1_3'UTR|WDR54_ENST00000409791.1_Silent_p.L206L	NM_032118.2	NP_115494.1	Q9H977	WDR54_HUMAN	WD repeat domain 54	258										breast(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	9						TCTGCGCCCTGGACCTGGCTT	0.527													34	61					0	0	1	0	0	A	74652340	G	A	74652340	2	1	318	1	0	0	0	0	0	0	0	1	17366	1335	47	2		2	WDR54	2	74652340	Silent	SNP	G	TCGA-HT-A614-01A-11D-A29Q-08	53421921	74652340	168547033	6	30281											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	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	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								9	26					0	0	1	0	0	T	209113112	C	T	209113112	3	4	318	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HT-A614-01A-11D-A29Q-08	134460772	209113112	34086261	7	30282											
ZNF385D	79750	broad.mit.edu	37	3	21606071	21606071	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr3:21606071A>G	ENST00000281523.2	-	3	789	c.271T>C	c.(271-273)Tct>Cct	p.S91P	ZNF385D_ENST00000494118.1_5'UTR|ZNF385D-AS1_ENST00000412369.1_RNA	NM_024697.2	NP_078973.1	Q9H6B1	Z385D_HUMAN	zinc finger protein 385D	91						nucleus	nucleic acid binding|zinc ion binding			NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						CTTACATCAGAATTAAATCTC	0.343													3	38					0	0	1	0	0	G	21606071	A	G	21606071	3	3	318	1	0	0	0	0	1	0	0	0	17935	246	9	3	940	3	ZNF385D	3	21606071	Missense_Mutation	SNP	A	TCGA-HT-A614-01A-11D-A29Q-08		21606071	176416359	8	30283											
SMARCC1	6599	broad.mit.edu	37	3	47704025	47704025	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr3:47704025T>C	ENST00000254480.5	-	20	2076	c.1957A>G	c.(1957-1959)Act>Gct	p.T653A	SMARCC1_ENST00000425518.1_5'UTR	NM_003074.3	NP_003065.3	Q92922	SMRC1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1	653	SANT.				chromatin remodeling|nervous system development|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex|WINAC complex	DNA binding|protein N-terminus binding|transcription coactivator activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33				BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)		TCATCCTGAGTACGACTTCCA	0.458													3	37					0	0	1	0	0	C	47704025	T	C	47704025	3	2	318	1	0	0	0	0	1	0	0	0	14829	1638	57	3	1396	3	SMARCC1	3	47704025	Missense_Mutation	SNP	T	TCGA-HT-A614-01A-11D-A29Q-08	26097954	47704025	150318405	9	30284											
TMEM129	92305	broad.mit.edu	37	4	1722422	1722422	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr4:1722422delA	ENST00000382936.3	-	1	636	c.143delT	c.(142-144)ttcfs	p.F48fs	TMEM129_ENST00000536901.1_Frame_Shift_Del_p.F48fs|TMEM129_ENST00000303277.2_Frame_Shift_Del_p.F48fs	NM_001127266.1	NP_001120738.1	A0AVI4	TM129_HUMAN	transmembrane protein 129	48						integral to membrane				lung(2)	2			OV - Ovarian serous cystadenocarcinoma(23;0.00765)			GAAGGGCACGAAGGCGGCGTC	0.711													2	4	---	---	---	---						-	1722422	A	-	1722422	7	5	318	1	0	1	0	1	0	0	0	0	16102	246	9	0	961	0	TMEM129	4	1722422	Frame_Shift_Del	DEL	A	TCGA-HT-A614-01A-11D-A29Q-08		1722422	189431854	10	30285											
CCDC149	91050	broad.mit.edu	37	4	24875312	24875312	+	Silent	SNP	T	T	C			TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr4:24875312T>C	ENST00000504487.1	-	3	261	c.255A>G	c.(253-255)aaA>aaG	p.K85K	CCDC149_ENST00000428116.2_Silent_p.K30K|CCDC149_ENST00000389609.4_Silent_p.K85K|CCDC149_ENST00000502801.1_Silent_p.K85K	NM_001130726.2	NP_001124198.1	B4DZG3	B4DZG3_HUMAN	coiled-coil domain containing 149	85										cervix(1)|endometrium(1)|large_intestine(2)|lung(3)	7		Breast(46;0.173)				CCTGTTTCCTTTTTTCAGGAG	0.343													7	9					0	0	1	0	0	C	24875312	T	C	24875312	2	2	318	1	0	0	0	0	0	0	0	1	2801	1838	64	3		3	CCDC149	4	24875312	Silent	SNP	T	TCGA-HT-A614-01A-11D-A29Q-08	23152890	24875312	166278964	11	30286											
YTHDC1	91746	broad.mit.edu	37	4	69189859	69189859	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr4:69189859G>A	ENST00000344157.4	-	10	1767	c.1432C>T	c.(1432-1434)Cag>Tag	p.Q478*	YTHDC1_ENST00000355665.3_Nonsense_Mutation_p.Q460*|YTHDC1_ENST00000579690.1_Nonsense_Mutation_p.Q478*	NM_001031732.2	NP_001026902.1	Q96MU7	YTDC1_HUMAN	YTH domain containing 1	478	YTH.									NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	30						CCACAAACCTGTCCATCACGT	0.353													6	42					0	0	1	0	0	A	69189859	G	A	69189859	4	1	318	1	0	0	0	0	0	1	0	0	17556	1386	48	2	783	2	YTHDC1	4	69189859	Nonsense_Mutation	SNP	G	TCGA-HT-A614-01A-11D-A29Q-08	44314547	69189859	121964417	12	30287											
ADH7	131	broad.mit.edu	37	4	100349018	100349018	+	Missense_Mutation	SNP	T	T	A			TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr4:100349018T>A	ENST00000437033.2	-	5	979	c.476A>T	c.(475-477)aAg>aTg	p.K159M	ADH7_ENST00000482593.1_Missense_Mutation_p.K102M|ADH7_ENST00000476959.1_Missense_Mutation_p.K179M|ADH7_ENST00000209665.4_Missense_Mutation_p.K171M			P40394	ADH7_HUMAN	alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide	171					ethanol oxidation|fatty acid omega-oxidation|response to bacterium|response to ethanol|xenobiotic metabolic process	cytosol|soluble fraction	alcohol dehydrogenase activity, zinc-dependent|aldehyde oxidase activity|ethanol binding|receptor antagonist activity|retinol binding|retinol dehydrogenase activity			breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)	19				OV - Ovarian serous cystadenocarcinoma(123;1.75e-08)	NADH(DB00157)	ATCATCAATCTTAGCAACAGA	0.463													7	49					0	0	1	0	0	A	100349018	T	A	100349018	3	1	318	1	0	0	0	0	1	0	0	0	312	1609	56	5	668	5	ADH7	4	100349018	Missense_Mutation	SNP	T	TCGA-HT-A614-01A-11D-A29Q-08	31159159	100349018	90805258	13	30288											
DCHS2	54798	broad.mit.edu	37	4	155241554	155241554	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr4:155241554G>A	ENST00000357232.4	-	14	3631	c.3632C>T	c.(3631-3633)aCg>aTg	p.T1211M		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2		Cadherin 10.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		TAGCATAAACGTCATGTTTTC	0.408													22	46					0	0	1	0	0	A	155241554	G	A	155241554	3	1	318	1	0	0	0	0	1	0	0	0	4311	1145	40	1	5166	1	DCHS2	4	155241554	Missense_Mutation	SNP	G	TCGA-HT-A614-01A-11D-A29Q-08	54892536	155241554	35912722	14	30289											
SLC6A18	348932	broad.mit.edu	37	5	1243683	1243683	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr5:1243683C>T	ENST00000324642.3	+	9	1268	c.1145C>T	c.(1144-1146)cCg>cTg	p.P382L	SLC6A18_ENST00000296821.4_Missense_Mutation_p.P311L	NM_182632.2	NP_872438.2	Q96N87	S6A18_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 18	382					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1)	34	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			GCCTCGGGCCCGGGCCTGGCC	0.647													7	34					0	0	1	0	0	T	1243683	C	T	1243683	3	4	318	1	0	0	0	0	1	0	0	0	14736	652	23	1	1179	1	SLC6A18	5	1243683	Missense_Mutation	SNP	C	TCGA-HT-A614-01A-11D-A29Q-08		1243683	179671577	15	30290											
DAP	1611	broad.mit.edu	37	5	10748365	10748365	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr5:10748365C>T	ENST00000230895.6	-	2	277	c.74G>A	c.(73-75)cGa>cAa	p.R25Q	DAP_ENST00000432074.2_Missense_Mutation_p.R25Q|DAP_ENST00000510546.1_5'UTR	NM_004394.2	NP_004385.1	P51397	DAP1_HUMAN	death-associated protein	25					activation of caspase activity|cellular response to amino acid starvation|induction of apoptosis by extracellular signals|negative regulation of autophagy|negative regulation of NF-kappaB transcription factor activity|negative regulation of transcription, DNA-dependent		death domain binding	p.R25Q(1)		endometrium(1)|large_intestine(1)|lung(1)	3		Ovarian(839;1.34e-05)|Breast(839;0.0634)|Lung NSC(810;0.0804)				CTGCACAATTCGCATTCCACC	0.502													14	24					0	0	1	0	0	T	10748365	C	T	10748365	3	4	318	1	0	0	0	0	1	0	0	0	4257	884	31	1	246	1	DAP	5	10748365	Missense_Mutation	SNP	C	TCGA-HT-A614-01A-11D-A29Q-08	9504682	10748365	170166895	16	30291											
PCDHAC2	56134	broad.mit.edu	37	5	140347873	140347873	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr5:140347873C>T	ENST00000289269.5	+	1	2054	c.1522C>T	c.(1522-1524)Ctt>Ttt	p.L508F	PCDHA7_ENST00000525929.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHAC1_ENST00000253807.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA4_ENST00000512229.2_Intron	NM_018899.5|NM_031883.2	NP_061722.1|NP_114089.1	Q9Y5I4	PCDC2_HUMAN		508	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACCTACTCCCTTCTGGAGAG	0.488													4	97					0	0	1	0	0	T	140347873	C	T	140347873	3	4	318	1	0	0	0	0	1	0	0	0	11580	681	24	2	1524	2	PCDHAC2	5	140347873	Missense_Mutation	SNP	C	TCGA-HT-A614-01A-11D-A29Q-08	129599508	140347873	40567387	17	30292											
RNF145	153830	broad.mit.edu	37	5	158601111	158601111	+	Missense_Mutation	SNP	A	A	C			TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr5:158601111A>C	ENST00000424310.2	-	6	1036	c.677T>G	c.(676-678)gTa>gGa	p.V226G	RNF145_ENST00000519865.1_Missense_Mutation_p.V226G|RNF145_ENST00000521606.2_Missense_Mutation_p.V243G|RNF145_ENST00000518802.1_Missense_Mutation_p.V256G|RNF145_ENST00000520638.1_Missense_Mutation_p.V240G|RNF145_ENST00000274542.2_Missense_Mutation_p.V254G	NM_001199383.1	NP_001186312.1	Q96MT1	RN145_HUMAN	ring finger protein 145	226						integral to membrane	zinc ion binding			endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AACAGGGACTACCAGTTGATT	0.433													7	17					0	0	1	0	0	C	158601111	A	C	158601111	3	2	318	1	0	0	0	0	1	0	0	0	13499	391	14	5	1338	5	RNF145	5	158601111	Missense_Mutation	SNP	A	TCGA-HT-A614-01A-11D-A29Q-08	18253238	158601111	22314149	18	30293											
ARID1B	57492	broad.mit.edu	37	6	157522460	157522460	+	Missense_Mutation	SNP	A	A	G	rs139214813		TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr6:157522460A>G	ENST00000346085.5	+	18	4733	c.4732A>G	c.(4732-4734)Atg>Gtg	p.M1578V	ARID1B_ENST00000350026.5_Missense_Mutation_p.M1565V|ARID1B_ENST00000275248.4_Missense_Mutation_p.M1560V|ARID1B_ENST00000367148.1_Missense_Mutation_p.M1618V	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1565	Pro-rich.				chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		TCTGCCGTCTATGAAGATGCA	0.602													6	126					0	0	1	0	0	G	157522460	A	G	157522460	3	3	318	1	0	0	0	0	1	0	0	0	911	449	16	3	4802	3	ARID1B	6	157522460	Missense_Mutation	SNP	A	TCGA-HT-A614-01A-11D-A29Q-08		157522460	13592607	19	30294											
ADCY1	107	broad.mit.edu	37	7	45717491	45717491	+	Silent	SNP	G	G	A			TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr7:45717491G>A	ENST00000297323.7	+	9	1651	c.1629G>A	c.(1627-1629)tcG>tcA	p.S543S		NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	543					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)	GAACAGCCTCGGAAAAACTCA	0.498													4	125					0	0	1	0	0	A	45717491	G	A	45717491	2	1	318	1	0	0	0	0	0	0	0	1	291	1103	39	1		1	ADCY1	7	45717491	Silent	SNP	G	TCGA-HT-A614-01A-11D-A29Q-08		45717491	113421172	20	30295											
TAS2R41	259287	broad.mit.edu	37	7	143175752	143175752	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr7:143175752G>A	ENST00000408916.1	+	1	787	c.787G>A	c.(787-789)Gac>Aac	p.D263N	EPHA1-AS1_ENST00000429289.1_RNA	NM_176883.2	NP_795364.2	P59536	T2R41_HUMAN	taste receptor, type 2, member 41	263					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			endometrium(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(2)|skin(1)	18	Melanoma(164;0.15)					CATGCAGAACGACTTTTACTG	0.473													4	67					0	0	1	0	0	A	143175752	G	A	143175752	3	1	318	1	0	0	0	0	1	0	0	0	15636	1058	37	1	789	1	TAS2R41	7	143175752	Missense_Mutation	SNP	G	TCGA-HT-A614-01A-11D-A29Q-08	97458261	143175752	15962911	21	30296											
TYRP1	7306	broad.mit.edu	37	9	12702411	12702414	+	Frame_Shift_Del	DEL	ACAA	ACAA	-			TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr9:12702411_12702414delACAA	ENST00000388918.5	+	5	1183_1186	c.1054_1057delACAA	c.(1054-1059)acaaacfs	p.TN352fs	RP11-3L8.3_ENST00000417638.1_RNA|TYRP1_ENST00000381136.2_Frame_Shift_Del_p.TN62fs|TYRP1_ENST00000381137.2_Frame_Shift_Del_p.TN62fs	NM_000550.2	NP_000541.1	P17643	TYRP1_HUMAN	tyrosinase-related protein 1	352					melanin biosynthetic process	clathrin-coated endocytic vesicle membrane|endosome membrane|integral to membrane|melanosome membrane	copper ion binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, another compound as one donor, and incorporation of one atom of oxygen|protein heterodimerization activity|protein homodimerization activity	p.N353fs*31(2)		NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|stomach(1)	22		all_cancers(3;3.1e-05)|all_lung(3;1.7e-06)|Lung NSC(3;2.09e-06)|all_epithelial(3;0.000695)|all_hematologic(3;0.0033)|Acute lymphoblastic leukemia(23;0.0744)		GBM - Glioblastoma multiforme(50;9.85e-06)		TTCCAACTCTACAAACAGTTTCCG	0.387									Oculocutaneous Albinism				14	4	---	---	---	---						-	12702414	ACAA	-	12702411	7	5	318	1	0	1	0	1	0	0	0	0	16878	391	14	0	1068	0	TYRP1	9	12702411	Frame_Shift_Del	DEL	ACAA	TCGA-HT-A614-01A-11D-A29Q-08		12702411	128511020	22	30297											
PPP6C	5537	broad.mit.edu	37	9	127933438	127933438	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr9:127933438C>T	ENST00000451402.1	-	3	428	c.208G>A	c.(208-210)Gac>Aac	p.D70N	PPP6C_ENST00000373546.3_5'UTR|PPP6C_ENST00000373547.4_Missense_Mutation_p.D33N|PPP6C_ENST00000415905.1_Missense_Mutation_p.D33N	NM_001123355.1	NP_001116827.1	O00743	PPP6_HUMAN	protein phosphatase 6, catalytic subunit	33					G1/S transition of mitotic cell cycle|protein dephosphorylation	cytosol	metal ion binding|protein binding|protein serine/threonine phosphatase activity			NS(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(2)|ovary(1)|skin(3)	14						AAGAGGAGGTCACAAACGTAG	0.328													32	49					0	0	1	0	0	T	127933438	C	T	127933438	3	4	318	1	0	0	0	0	1	0	0	0	12456	826	29	2	844	2	PPP6C	9	127933438	Missense_Mutation	SNP	C	TCGA-HT-A614-01A-11D-A29Q-08	115231027	127933438	13279993	23	30298											
NUP188	23511	broad.mit.edu	37	9	131768629	131768629	+	Silent	SNP	G	G	A			TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr9:131768629G>A	ENST00000372577.2	+	43	5076	c.5055G>A	c.(5053-5055)caG>caA	p.Q1685Q		NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	1685					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						GGATGAAGCAGGAGCTCAGCT	0.592											OREG0019528	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	22	237					0	0	1	0	0	A	131768629	G	A	131768629	2	1	318	1	0	0	0	0	0	0	0	1	10806	991	35	2		2	NUP188	9	131768629	Silent	SNP	G	TCGA-HT-A614-01A-11D-A29Q-08	3835191	131768629	9444802	24	30299											
KIAA1462	57608	broad.mit.edu	37	10	30318281	30318281	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr10:30318281C>T	ENST00000375377.1	-	3	897	c.796G>A	c.(796-798)Gca>Aca	p.A266T		NM_020848.2	NP_065899.1	Q9P266	K1462_HUMAN	KIAA1462	266	Pro-rich.									breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						AAATTTGGTGCGCAAGTGGGA	0.522													6	61					0	0	1	0	0	T	30318281	C	T	30318281	3	4	318	1	0	0	0	0	1	0	0	0	8276	768	27	1	3291	1	KIAA1462	10	30318281	Missense_Mutation	SNP	C	TCGA-HT-A614-01A-11D-A29Q-08		30318281	105216466	25	30300											
HK1	3098	broad.mit.edu	37	10	71160766	71160766	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr10:71160766C>T	ENST00000448642.2	+	23	3123	c.2734C>T	c.(2734-2736)Cag>Tag	p.Q912*	HK1_ENST00000298649.3_Nonsense_Mutation_p.Q876*|HK1_ENST00000360289.2_Nonsense_Mutation_p.Q865*|HK1_ENST00000359426.6_Nonsense_Mutation_p.Q877*|HK1_ENST00000404387.2_Nonsense_Mutation_p.Q881*			P19367	HXK1_HUMAN	hexokinase 1	877	Catalytic.				glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane|nucleus	ATP binding|glucokinase activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(1)|urinary_tract(2)	35						AATCATGCACCAGACGGTGAA	0.552													21	43					0	0	1	0	0	T	71160766	C	T	71160766	4	4	318	1	0	0	0	0	0	1	0	0	7231	595	21	2	2877	2	HK1	10	71160766	Nonsense_Mutation	SNP	C	TCGA-HT-A614-01A-11D-A29Q-08	40842485	71160766	64373981	26	30301											
AMBRA1	55626	broad.mit.edu	37	11	46431879	46431879	+	Silent	SNP	C	C	G			TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr11:46431879C>G	ENST00000458649.2	-	16	3574	c.3156G>C	c.(3154-3156)ctG>ctC	p.L1052L	AMBRA1_ENST00000534300.1_Silent_p.L992L|AMBRA1_ENST00000426438.1_Silent_p.L1023L|AMBRA1_ENST00000528950.1_Silent_p.L1023L|AMBRA1_ENST00000298834.3_Silent_p.L992L|AMBRA1_ENST00000533727.1_Silent_p.L933L|AMBRA1_ENST00000314845.3_Silent_p.L962L			Q9C0C7	AMRA1_HUMAN	autophagy/beclin-1 regulator 1	1052					autophagy|cell differentiation|nervous system development	autophagic vacuole|cytoplasmic vesicle				NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		CCGTCTCGTTCAGCTGGTCCC	0.532													7	103					0	0	1	0	0	G	46431879	C	G	46431879	2	3	318	1	0	0	0	0	0	0	0	1	561	813	29	5		5	AMBRA1	11	46431879	Silent	SNP	C	TCGA-HT-A614-01A-11D-A29Q-08		46431879	88574637	27	30302											
FNBP4	23360	broad.mit.edu	37	11	47753113	47753113	+	Splice_Site	SNP	C	C	T			TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr11:47753113C>T	ENST00000263773.5	-	12	1833	c.1821G>A	c.(1819-1821)agG>agA	p.R607R		NM_015308.2	NP_056123.2	Q8N3X1	FNBP4_HUMAN	formin binding protein 4	607	WW 2.									NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	44						GTCTATGATCCCTAAATTACA	0.438													24	28					0	0	1	0	0	T	47753113	C	T	47753113	5	4	318	1	0	0	0	0	0	0	1	0	6000	637	22	2	1256	2	FNBP4	11	47753113	Splice_Site	SNP	C	TCGA-HT-A614-01A-11D-A29Q-08	1321234	47753113	87253403	28	30303											
OR4C13	283092	broad.mit.edu	37	11	49974773	49974773	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr11:49974773A>G	ENST00000555099.1	+	1	831	c.799A>G	c.(799-801)Aaa>Gaa	p.K267E		NM_001001955.2	NP_001001955.2	Q8NGP0	OR4CD_HUMAN	olfactory receptor, family 4, subfamily C, member 13	267					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	43						ACCCATTGATAAAGCAGTTGC	0.393													4	91					0	0	1	0	0	G	49974773	A	G	49974773	3	3	318	1	0	0	0	0	1	0	0	0	11095	363	13	3	801	3	OR4C13	11	49974773	Missense_Mutation	SNP	A	TCGA-HT-A614-01A-11D-A29Q-08	2221660	49974773	85031743	29	30304											
MS4A3	932	broad.mit.edu	37	11	59831748	59831748	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr11:59831748G>A	ENST00000278865.3	+	4	381	c.308G>A	c.(307-309)gGa>gAa	p.G103E	MS4A3_ENST00000534744.1_Missense_Mutation_p.G57E|MS4A3_ENST00000358152.2_Missense_Mutation_p.G57E|MS4A3_ENST00000395032.2_5'UTR	NM_006138.4	NP_006129.4	Q96HJ5	MS4A3_HUMAN	membrane-spanning 4-domains, subfamily A, member 3 (hematopoietic cell-specific)	103						endomembrane system|integral to membrane|perinuclear region of cytoplasm	protein binding|receptor activity			endometrium(4)|kidney(2)|lung(9)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21		all_epithelial(135;0.245)				TGTAGTTCAGGAACCTTGTCT	0.363													3	29					0	0	1	0	0	A	59831748	G	A	59831748	3	1	318	1	0	0	0	0	1	0	0	0	9910	1174	41	2	318	2	MS4A3	11	59831748	Missense_Mutation	SNP	G	TCGA-HT-A614-01A-11D-A29Q-08	9856975	59831748	75174768	30	30305											
ARNTL2	56938	broad.mit.edu	37	12	27553705	27553705	+	Missense_Mutation	SNP	A	A	T			TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr12:27553705A>T	ENST00000544915.1	+	9	1275	c.1056A>T	c.(1054-1056)caA>caT	p.Q352H	RP11-165P7.1_ENST00000500498.2_RNA|ARNTL2_ENST00000266503.5_Missense_Mutation_p.Q386H|ARNTL2_ENST00000395901.2_Missense_Mutation_p.Q349H|ARNTL2_ENST00000546179.1_Missense_Mutation_p.Q349H|ARNTL2_ENST00000311001.5_Missense_Mutation_p.Q372H|ARNTL2_ENST00000261178.5_Missense_Mutation_p.Q338H|ARNTL2_ENST00000542388.1_Missense_Mutation_p.Q301H	NM_020183.4	NP_064568.3	Q8WYA1	BMAL2_HUMAN	aryl hydrocarbon receptor nuclear translocator-like 2	386					circadian rhythm|entrainment of circadian clock|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1)	21	Colorectal(261;0.0847)|Lung SC(9;0.184)					ATGTAGATCAAAGGTAAACAT	0.323													21	20					0	0	1	0	0	T	27553705	A	T	27553705	3	4	318	1	0	0	0	0	1	0	0	0	967	11	1	5	1196	5	ARNTL2	12	27553705	Missense_Mutation	SNP	A	TCGA-HT-A614-01A-11D-A29Q-08		27553705	106298190	31	30306											
DNAJC14	85406	broad.mit.edu	37	12	56222131	56222131	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr12:56222131G>T	ENST00000357606.3	-	3	601	c.312C>A	c.(310-312)gaC>gaA	p.D104E	DNAJC14_ENST00000317269.3_Missense_Mutation_p.D104E|DNAJC14_ENST00000317287.5_Missense_Mutation_p.D104E			Q6Y2X3	DJC14_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 14	104					protein folding|protein transport	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|unfolded protein binding			breast(2)|kidney(1)|large_intestine(8)|lung(7)|ovary(3)|prostate(1)|skin(1)	23						AGAGTTCCTGGTCCACTCCTG	0.527													9	300					0.000274275	0.000287989	1	1	0	T	56222131	G	T	56222131	3	4	318	1	0	0	0	0	1	0	0	0	4660	1252	44	5	1820	5	DNAJC14	12	56222131	Missense_Mutation	SNP	G	TCGA-HT-A614-01A-11D-A29Q-08	28668426	56222131	77629764	32	30307											
NCOR2	9612	broad.mit.edu	37	12	124810104	124810104	+	Silent	SNP	G	G	A			TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr12:124810104G>A	ENST00000356219.3	-	48	7565	c.7410C>T	c.(7408-7410)ccC>ccT	p.P2470P	NCOR2_ENST00000404621.1_Silent_p.P2407P|NCOR2_ENST00000397355.1_Silent_p.P2408P|NCOR2_ENST00000405201.1_Silent_p.P2463P|NCOR2_ENST00000429285.2_Silent_p.P2453P|NCOR2_ENST00000404121.2_Silent_p.P2024P	NM_006312.5	NP_006303.4	Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	2474					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		GCATGATCAGGGGGTTGTAGG	0.721													3	1					0	0	1	0	0	A	124810104	G	A	124810104	2	1	318	1	0	0	0	0	0	0	0	1	10283	1219	43	2		2	NCOR2	12	124810104	Silent	SNP	G	TCGA-HT-A614-01A-11D-A29Q-08	68587973	124810104	9041791	33	30308											
AKAP13	11214	broad.mit.edu	37	15	86076938	86076938	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr15:86076938T>C	ENST00000394518.2	+	4	400	c.305T>C	c.(304-306)tTc>tCc	p.F102S	AKAP13_ENST00000560302.1_Missense_Mutation_p.F102S|AKAP13_ENST00000361243.2_Missense_Mutation_p.F102S	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	102					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						GCAGCTCAATTCCTAGCAACC	0.493													37	46					0	0	1	0	0	C	86076938	T	C	86076938	3	2	318	1	0	0	0	0	1	0	0	0	446	1783	62	3	315	3	AKAP13	15	86076938	Missense_Mutation	SNP	T	TCGA-HT-A614-01A-11D-A29Q-08		86076938	16454454	34	30309											
USP10	9100	broad.mit.edu	37	16	84778248	84778248	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr16:84778248A>G	ENST00000219473.7	+	4	274	c.161A>G	c.(160-162)tAt>tGt	p.Y54C	USP10_ENST00000562743.1_3'UTR|USP10_ENST00000570191.1_Missense_Mutation_p.Y58C	NM_001272075.1|NM_005153.2	NP_001259004.1|NP_005144.2	Q14694	UBP10_HUMAN	ubiquitin specific peptidase 10	54	Interaction with p53/TP53.				DNA damage response, signal transduction by p53 class mediator|DNA repair|protein deubiquitination|ubiquitin-dependent protein catabolic process	early endosome|intermediate filament cytoskeleton|nucleus	cystic fibrosis transmembrane conductance regulator binding|p53 binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			endometrium(3)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|stomach(1)|urinary_tract(1)	17						GGACAAGAATATCAGAGAATT	0.393													3	28					0	0	1	0	0	G	84778248	A	G	84778248	3	3	318	1	0	0	0	0	1	0	0	0	17101	449	16	3	175	3	USP10	16	84778248	Missense_Mutation	SNP	A	TCGA-HT-A614-01A-11D-A29Q-08		84778248	5576505	35	30310											
TP53	7157	broad.mit.edu	37	17	7577120	7577120	+	Missense_Mutation	SNP	C	C	A	rs28934576	by1000genomes	TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr17:7577120C>A	ENST00000420246.2	-	8	950	c.818G>T	c.(817-819)cGt>cTt	p.R273L	TP53_ENST00000359597.4_Missense_Mutation_p.R273L|TP53_ENST00000445888.2_Missense_Mutation_p.R273L|TP53_ENST00000413465.2_Intron|TP53_ENST00000269305.4_Missense_Mutation_p.R273L|TP53_ENST00000455263.2_Missense_Mutation_p.R273L	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	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).		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.R273H(521)|p.R273L(93)|p.R273P(32)|p.0?(8)|p.?(2)|p.R273fs*32(2)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273S(1)|p.E258fs*71(1)|p.R273fs*72(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.R273fs*33(1)|p.E271_R273delEVR(1)|p.V272_K292del21(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	0.542	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)			18	7					6.94344e-10	7.54202e-10	1	1	0	A	7577120	C	A	7577120	3	1	318	1	0	0	0	0	1	0	0	0	16442	536	19	5	468	5	TP53	17	7577120	Missense_Mutation	SNP	C	TCGA-HT-A614-01A-11D-A29Q-08		7577120	73618090	36	30311											
MYH4	4622	broad.mit.edu	37	17	10370011	10370011	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr17:10370011G>A	ENST00000255381.2	-	3	162	c.52C>T	c.(52-54)Cga>Tga	p.R18*	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	18	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TCAGACTTTCGGAGGAAAGGA	0.478													14	83					0	0	1	0	0	A	10370011	G	A	10370011	4	1	318	1	0	0	0	0	0	1	0	0	10085	1124	39	1	5919	1	MYH4	17	10370011	Nonsense_Mutation	SNP	G	TCGA-HT-A614-01A-11D-A29Q-08	2792891	10370011	70825199	37	30312											
PIGS	94005	broad.mit.edu	37	17	26890508	26890508	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr17:26890508G>T	ENST00000308360.7	-	5	784	c.409C>A	c.(409-411)Caa>Aaa	p.Q137K	PIGS_ENST00000395346.2_Missense_Mutation_p.Q129K|PIGS_ENST00000465444.1_5'UTR|PIGS_ENST00000543734.1_Missense_Mutation_p.Q76K	NM_033198.3	NP_149975.1	Q96S52	PIGS_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class S	137					attachment of GPI anchor to protein|C-terminal protein lipidation	GPI-anchor transamidase complex	protein binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Lung NSC(42;0.00431)					CCCTCCGCTTGTTCCTGAGGC	0.527													21	34					1.55795e-14	1.75269e-14	1	1	0	T	26890508	G	T	26890508	3	4	318	1	0	0	0	0	1	0	0	0	11946	1386	48	5	1290	5	PIGS	17	26890508	Missense_Mutation	SNP	G	TCGA-HT-A614-01A-11D-A29Q-08	16520497	26890508	54304702	38	30313											
CSF3	1440	broad.mit.edu	37	17	38172560	38172560	+	Silent	SNP	C	C	T			TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr17:38172560C>T	ENST00000331769.2	+	2	474	c.258C>T	c.(256-258)ccC>ccT	p.P86P	CSF3_ENST00000394148.3_Intron|CSF3_ENST00000225474.2_Silent_p.P93P|CSF3_ENST00000577675.1_Intron|CSF3_ENST00000394149.3_Silent_p.P90P			P09919	CSF3_HUMAN	colony stimulating factor 3 (granulocyte)	93					cytokine-mediated signaling pathway|granulocyte differentiation|immune response|positive regulation of cell proliferation	extracellular space	cytokine activity|enzyme binding|granulocyte colony-stimulating factor receptor binding|growth factor activity			endometrium(1)|ovary(1)|prostate(1)	3	Colorectal(19;0.000442)	Myeloproliferative disorder(1115;0.0255)			Filgrastim(DB00099)|Pegfilgrastim(DB00019)	CCTGGGCTCCCCTGAGCAGCT	0.632													8	9					0	0	1	0	0	T	38172560	C	T	38172560	2	4	318	1	0	0	0	0	0	0	0	1	3961	610	22	2		2	CSF3	17	38172560	Silent	SNP	C	TCGA-HT-A614-01A-11D-A29Q-08	11282052	38172560	43022650	39	30314											
CD300LF	146722	broad.mit.edu	37	17	72699245	72699245	+	Silent	SNP	C	C	G			TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr17:72699245C>G	ENST00000361254.4	-	3	428	c.429G>C	c.(427-429)acG>acC	p.T143T	CD300LF_ENST00000301573.9_Intron|RAB37_ENST00000402449.4_Intron|CD300LF_ENST00000343125.4_Intron|CD300LF_ENST00000326165.6_Intron|CD300LF_ENST00000581500.1_Silent_p.T143T|RAB37_ENST00000340415.3_Intron|CD300LF_ENST00000469092.1_Intron|CD300LF_ENST00000583937.1_Silent_p.T140T|CD300LF_ENST00000464910.1_Intron			Q8TDQ1	CLM1_HUMAN	CD300 molecule-like family member f	127						integral to membrane|plasma membrane	receptor activity			endometrium(2)|large_intestine(1)|lung(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						GTGCTGTAAACGTAGTGGAGG	0.572													9	33					0	0	1	0	0	G	72699245	C	G	72699245	2	3	318	1	0	0	0	0	0	0	0	1	3023	551	19	5		5	CD300LF	17	72699245	Silent	SNP	C	TCGA-HT-A614-01A-11D-A29Q-08	34526685	72699245	8495965	40	30315											
SMARCA4	6597	broad.mit.edu	37	19	11095998	11095998	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr19:11095998A>G	ENST00000358026.2	+	3	556	c.272A>G	c.(271-273)aAc>aGc	p.N91S	SMARCA4_ENST00000589677.1_Missense_Mutation_p.N91S|SMARCA4_ENST00000450717.3_Missense_Mutation_p.N91S|SMARCA4_ENST00000429416.3_Missense_Mutation_p.N91S|SMARCA4_ENST00000590574.1_Missense_Mutation_p.N91S|SMARCA4_ENST00000541122.2_Missense_Mutation_p.N91S|SMARCA4_ENST00000344626.4_Missense_Mutation_p.N91S|SMARCA4_ENST00000413806.3_Missense_Mutation_p.N91S|SMARCA4_ENST00000444061.3_Missense_Mutation_p.N91S	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	91	Necessary for interaction with SS18L1/CREST (By similarity).				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				CCGCGCTACAACCAGATGAAA	0.632			"F, N, Mis"		NSCLC								15	37					0	0	1	0	0	G	11095998	A	G	11095998	3	3	318	1	0	0	0	0	1	0	0	0	14824	43	2	3	278	3	SMARCA4	19	11095998	Missense_Mutation	SNP	A	TCGA-HT-A614-01A-11D-A29Q-08		11095998	48032985	41	30316											
SCAF1	58506	broad.mit.edu	37	19	50154597	50154597	+	Silent	SNP	C	C	T			TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr19:50154597C>T	ENST00000360565.3	+	7	1075	c.951C>T	c.(949-951)gaC>gaT	p.D317D		NM_021228.2	NP_067051.2	Q9H7N4	SFR19_HUMAN	SR-related CTD-associated factor 1	317					mRNA processing|RNA splicing	nucleus	RNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	20		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)		TCCCAGGTGACGAGAGCCCCC	0.697													3	14					0	0	1	0	0	T	50154597	C	T	50154597	2	4	318	1	0	0	0	0	0	0	0	1	13921	535	19	1		1	SCAF1	19	50154597	Silent	SNP	C	TCGA-HT-A614-01A-11D-A29Q-08	39058599	50154597	8974386	42	30317											
KLK15	55554	broad.mit.edu	37	19	51330985	51330985	+	Missense_Mutation	SNP	G	G	A	rs140896741	byFrequency	TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr19:51330985G>A	ENST00000326856.4	-	3	256	c.127C>T	c.(127-129)Cgc>Tgc	p.R43C	KLK15_ENST00000301421.2_Missense_Mutation_p.R44C|KLK15_ENST00000416184.1_Missense_Mutation_p.R44C|KLK15_ENST00000596931.1_Missense_Mutation_p.R43C|KLK15_ENST00000598239.1_Missense_Mutation_p.R44C	NM_001277081.1	NP_001264010.1	Q9H2R5	KLK15_HUMAN	kallikrein-related peptidase 15	44	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.0143)		CAGTTAAAGCGTCCACGCTCG	0.612													17	29					0	0	1	0	0	A	51330985	G	A	51330985	3	1	318	1	0	0	0	0	1	0	0	0	8446	1145	40	1	656	1	KLK15	19	51330985	Missense_Mutation	SNP	G	TCGA-HT-A614-01A-11D-A29Q-08	1176388	51330985	7797998	43	30318											
EIF2S2	8894	broad.mit.edu	37	20	32684527	32684527	+	Missense_Mutation	SNP	G	G	C			TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr20:32684527G>C	ENST00000374980.2	-	6	840	c.619C>G	c.(619-621)Cca>Gca	p.P207A		NM_003908.3	NP_003899.2	P20042	IF2B_HUMAN	eukaryotic translation initiation factor 2, subunit 2 beta, 38kDa	207						cytosol|eukaryotic translation initiation factor 2 complex	metal ion binding|protein binding|translation initiation factor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|prostate(3)|upper_aerodigestive_tract(1)	11						ACGACTTGTGGAGGTTTCATG	0.388													4	106					0	0	1	0	0	C	32684527	G	C	32684527	3	2	318	1	0	0	0	0	1	0	0	0	5036	1174	41	5	398	5	EIF2S2	20	32684527	Missense_Mutation	SNP	G	TCGA-HT-A614-01A-11D-A29Q-08		32684527	30340993	44	30319											
UBE2G2	7327	broad.mit.edu	37	21	46207992	46207992	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr21:46207992G>A	ENST00000345496.2	-	2	332	c.62C>T	c.(61-63)cCg>cTg	p.P21L	UBE2G2_ENST00000477954.1_5'UTR|UBE2G2_ENST00000330942.5_5'UTR	NM_003343.5	NP_003334.2	P60604	UB2G2_HUMAN	ubiquitin-conjugating enzyme E2G 2	21					protein K48-linked ubiquitination	cytosol	ATP binding|protein binding|ubiquitin-protein ligase activity			breast(3)|central_nervous_system(1)|lung(1)	5				Colorectal(79;0.0638)		AATTCCTTCCGGAGGATTCAG	0.269													12	19					0	0	1	0	0	A	46207992	G	A	46207992	3	1	318	1	0	0	0	0	1	0	0	0	16918	1116	39	1	455	1	UBE2G2	21	46207992	Missense_Mutation	SNP	G	TCGA-HT-A614-01A-11D-A29Q-08		46207992	1921903	45	30320											
FAAH2	158584	broad.mit.edu	37	X	57358192	57358192	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chrX:57358192C>T	ENST00000374900.4	+	4	694	c.574C>T	c.(574-576)Cga>Tga	p.R192*		NM_174912.3	NP_777572.2	Q6GMR7	FAAH2_HUMAN	fatty acid amide hydrolase 2	192						integral to membrane	carbon-nitrogen ligase activity, with glutamine as amido-N-donor|hydrolase activity			endometrium(2)|large_intestine(4)|lung(10)|ovary(3)|upper_aerodigestive_tract(3)	22						GATCTATGGCCGATCAAACAA	0.403										HNSCC(52;0.14)			43	12					0	0	1	0	0	T	57358192	C	T	57358192	4	4	318	1	0	0	0	0	0	1	0	0	5385	644	23	1	588	1	FAAH2	23	57358192	Nonsense_Mutation	SNP	C	TCGA-HT-A614-01A-11D-A29Q-08		57358192	97912368	46	30321											
ATRX	546	broad.mit.edu	37	X	76938920	76938920	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chrX:76938920G>A	ENST00000373344.5	-	9	2042	c.1828C>T	c.(1828-1830)Caa>Taa	p.Q610*	ATRX_ENST00000395603.3_Nonsense_Mutation_p.Q572*|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	610					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)	TCTTTATCTTGTGGAACTTCC	0.358			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						102	36					0	0	1	0	0	A	76938920	G	A	76938920	4	1	318	1	0	0	0	0	0	1	0	0	1206	1386	48	2	5758	2	ATRX	23	76938920	Nonsense_Mutation	SNP	G	TCGA-HT-A614-01A-11D-A29Q-08	19580728	76938920	78331640	47	30322											
SPEN	23013	broad.mit.edu	37	1	16174599	16174599	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HT-A615-01A-11D-A29Q-08	TCGA-HT-A615-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb574e00-e564-4dda-972c-dc25f4b07540	c83749e7-fee4-46ed-8263-ae642aee2429	g.chr1:16174599delT	ENST00000375759.3	+	1	241	c.37delT	c.(37-39)ttafs	p.L13fs	RP11-169K16.9_ENST00000317122.1_RNA	NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	13	RRM 1.				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		GGTGGGCAACTTACCCGAGAA	0.687													2	4	---	---	---	---						-	16174599	T	-	16174599	7	5	319	1	0	1	0	1	0	0	0	0	15094	1606	56	0	39	0	SPEN	1	16174599	Frame_Shift_Del	DEL	T	TCGA-HT-A615-01A-11D-A29Q-08		16174599	233076022	1	30323											
FUBP1	8880	broad.mit.edu	37	1	78444597	78444597	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HT-A615-01A-11D-A29Q-08	TCGA-HT-A615-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb574e00-e564-4dda-972c-dc25f4b07540	c83749e7-fee4-46ed-8263-ae642aee2429	g.chr1:78444597delA	ENST00000370767.1	-	1	179	c.92delT	c.(91-93)ttcfs	p.F31fs	FUBP1_ENST00000370768.2_Frame_Shift_Del_p.F31fs|FUBP1_ENST00000436586.2_Frame_Shift_Del_p.F31fs			Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1	31					transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						TGCATCTTTGAAAGCGTCGTT	0.612			"F, N"		oligodendroglioma								77	72	---	---	---	---						-	78444597	A	-	78444597	7	5	319	1	0	1	0	1	0	0	0	0	6127	246	9	0	1922	0	FUBP1	1	78444597	Frame_Shift_Del	DEL	A	TCGA-HT-A615-01A-11D-A29Q-08	62269998	78444597	170806024	2	30324											
INTS3	65123	broad.mit.edu	37	1	153730172	153730172	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-A615-01A-11D-A29Q-08	TCGA-HT-A615-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb574e00-e564-4dda-972c-dc25f4b07540	c83749e7-fee4-46ed-8263-ae642aee2429	g.chr1:153730172A>G	ENST00000456435.1	+	10	1650	c.464A>G	c.(463-465)aAt>aGt	p.N155S	INTS3_ENST00000476843.1_3'UTR|INTS3_ENST00000435409.2_Missense_Mutation_p.N361S|INTS3_ENST00000512605.1_Missense_Mutation_p.N155S|INTS3_ENST00000318967.2_Missense_Mutation_p.N361S			Q68E01	INT3_HUMAN	integrator complex subunit 3	362					DNA repair|G2/M transition checkpoint|response to ionizing radiation|snRNA processing	integrator complex|SOSS complex	protein binding			breast(1)|cervix(4)|endometrium(10)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CACCCTTCTAATGAAGTACTG	0.527													7	90					0	0	1	0	0	G	153730172	A	G	153730172	3	3	319	1	0	0	0	0	1	0	0	0	7823	101	4	3	1120	3	INTS3	1	153730172	Missense_Mutation	SNP	A	TCGA-HT-A615-01A-11D-A29Q-08	75285575	153730172	95520449	3	30325											
SPTA1	6708	broad.mit.edu	37	1	158612230	158612230	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A615-01A-11D-A29Q-08	TCGA-HT-A615-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb574e00-e564-4dda-972c-dc25f4b07540	c83749e7-fee4-46ed-8263-ae642aee2429	g.chr1:158612230C>T	ENST00000368147.4	-	33	4888	c.4708G>A	c.(4708-4710)Gct>Act	p.A1570T		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)					Missing (in Ref. 1; AAA60577/AAA60994 and 7; AAA60569).	actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CCATCACAAGCGCTACACTCA	0.453													21	75					0	0	1	0	0	T	158612230	C	T	158612230	3	4	319	1	0	0	0	0	1	0	0	0	15172	768	27	1	2631	1	SPTA1	1	158612230	Missense_Mutation	SNP	C	TCGA-HT-A615-01A-11D-A29Q-08	4882058	158612230	90638391	4	30326											
HMCN1	83872	broad.mit.edu	37	1	186106054	186106054	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A615-01A-11D-A29Q-08	TCGA-HT-A615-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb574e00-e564-4dda-972c-dc25f4b07540	c83749e7-fee4-46ed-8263-ae642aee2429	g.chr1:186106054C>T	ENST00000271588.4	+	87	13796	c.13567C>T	c.(13567-13569)Cca>Tca	p.P4523S	HMCN1_ENST00000367492.2_Missense_Mutation_p.P4523S	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	4523	Ig-like C2-type 44.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TGTCAGAGTGCCAGTCATAGT	0.398													4	122					0	0	1	0	0	T	186106054	C	T	186106054	3	4	319	1	0	0	0	0	1	0	0	0	7261	739	26	2	13913	2	HMCN1	1	186106054	Missense_Mutation	SNP	C	TCGA-HT-A615-01A-11D-A29Q-08	27493824	186106054	63144567	5	30327											
CDC73	79577	broad.mit.edu	37	1	193111017	193111017	+	Missense_Mutation	SNP	G	G	C			TCGA-HT-A615-01A-11D-A29Q-08	TCGA-HT-A615-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb574e00-e564-4dda-972c-dc25f4b07540	c83749e7-fee4-46ed-8263-ae642aee2429	g.chr1:193111017G>C	ENST00000367435.3	+	7	734	c.550G>C	c.(550-552)Gca>Cca	p.A184P		NM_024529.4	NP_078805.3	Q6P1J9	CDC73_HUMAN	cell division cycle 73	184				AIKA -> CNQT (in Ref. 2; BAB15608).	cell cycle|histone H2B ubiquitination|histone monoubiquitination|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(14)|ovary(1)|pancreas(1)|parathyroid(51)|skin(1)|upper_aerodigestive_tract(1)	87						AAAAATTGCTGCAATCAAAGC	0.348													8	11					0	0	1	0	0	C	193111017	G	C	193111017	3	2	319	1	0	0	0	0	1	0	0	0	3107	1319	46	5	576	5	CDC73	1	193111017	Missense_Mutation	SNP	G	TCGA-HT-A615-01A-11D-A29Q-08	7004963	193111017	56139604	6	30328											
URB2	9816	broad.mit.edu	37	1	229772950	229772950	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-A615-01A-11D-A29Q-08	TCGA-HT-A615-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb574e00-e564-4dda-972c-dc25f4b07540	c83749e7-fee4-46ed-8263-ae642aee2429	g.chr1:229772950A>G	ENST00000258243.2	+	4	2726	c.2590A>G	c.(2590-2592)Ata>Gta	p.I864V		NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	864						nucleolus				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						ACCCGAAGGTATAGAACCTAG	0.502													39	70					0	0	1	0	0	G	229772950	A	G	229772950	3	3	319	1	0	0	0	0	1	0	0	0	17085	449	16	3	2600	3	URB2	1	229772950	Missense_Mutation	SNP	A	TCGA-HT-A615-01A-11D-A29Q-08	36661933	229772950	19477671	7	30329											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-HT-A615-01A-11D-A29Q-08	TCGA-HT-A615-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb574e00-e564-4dda-972c-dc25f4b07540	c83749e7-fee4-46ed-8263-ae642aee2429	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	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								19	37					0	0	1	0	0	T	209113112	C	T	209113112	3	4	319	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HT-A615-01A-11D-A29Q-08		209113112	34086261	8	30330											
STK36	27148	broad.mit.edu	37	2	219544418	219544418	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A615-01A-11D-A29Q-08	TCGA-HT-A615-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb574e00-e564-4dda-972c-dc25f4b07540	c83749e7-fee4-46ed-8263-ae642aee2429	g.chr2:219544418C>T	ENST00000295709.3	+	8	1193	c.914C>T	c.(913-915)gCc>gTc	p.A305V	STK36_ENST00000392105.3_Missense_Mutation_p.A305V|STK36_ENST00000440309.1_Missense_Mutation_p.A305V|STK36_ENST00000392106.2_Missense_Mutation_p.A305V	NM_015690.4	NP_056505.2	Q9NRP7	STK36_HUMAN	serine/threonine kinase 36	305					cilium assembly|positive regulation of hh target transcription factor activity|positive regulation of smoothened signaling pathway|post-embryonic development	aggresome|cytoplasm|focal adhesion|intermediate filament cytoskeleton|nucleus	ATP binding|protein serine/threonine kinase activity|transcription factor binding			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(20)|ovary(4)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	52		Renal(207;0.0915)		Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984)		TTGACTCAGGCCTATAAACGC	0.557													19	48					0	0	1	0	0	T	219544418	C	T	219544418	3	4	319	1	0	0	0	0	1	0	0	0	15358	739	26	2	940	2	STK36	2	219544418	Missense_Mutation	SNP	C	TCGA-HT-A615-01A-11D-A29Q-08	10431306	219544418	23654955	9	30331											
ARMC9	80210	broad.mit.edu	37	2	232135764	232135764	+	Missense_Mutation	SNP	G	G	C			TCGA-HT-A615-01A-11D-A29Q-08	TCGA-HT-A615-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb574e00-e564-4dda-972c-dc25f4b07540	c83749e7-fee4-46ed-8263-ae642aee2429	g.chr2:232135764G>C	ENST00000349938.4	+	13	1383	c.1189G>C	c.(1189-1191)Gct>Cct	p.A397P	ARMC9_ENST00000483477.1_3'UTR	NM_001271466.1|NM_025139.4	NP_001258395.1|NP_079415	Q7Z3E5	ARMC9_HUMAN	armadillo repeat containing 9	397							binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		Renal(207;0.0112)|all_lung(227;0.0744)|all_hematologic(139;0.0749)|Acute lymphoblastic leukemia(138;0.167)|Medulloblastoma(418;0.184)|Lung NSC(271;0.205)		Epithelial(121;1.43e-10)|LUSC - Lung squamous cell carcinoma(224;0.017)|Lung(119;0.0189)		GCTCATCAATGCTTTTGCGTC	0.493													12	33					0	0	1	0	0	C	232135764	G	C	232135764	3	2	319	1	0	0	0	0	1	0	0	0	957	1319	46	5	1235	5	ARMC9	2	232135764	Missense_Mutation	SNP	G	TCGA-HT-A615-01A-11D-A29Q-08	12591346	232135764	11063609	10	30332											
CD96	10225	broad.mit.edu	37	3	111319659	111319659	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A615-01A-11D-A29Q-08	TCGA-HT-A615-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb574e00-e564-4dda-972c-dc25f4b07540	c83749e7-fee4-46ed-8263-ae642aee2429	g.chr3:111319659C>T	ENST00000352690.4	+	7	1225	c.985C>T	c.(985-987)Cca>Tca	p.P329S	CD96_ENST00000283285.5_Missense_Mutation_p.P345S|CD96_ENST00000438817.2_Missense_Mutation_p.P329S	NM_005816.4	NP_005807.1	P40200	TACT_HUMAN	CD96 molecule	345	Ig-like C2-type.				cell adhesion|immune response|regulation of immune response	integral to plasma membrane				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(4)|liver(2)|lung(14)|skin(5)	35						TAGTAATAAACCAGCCCAATC	0.378									Opitz Trigonocephaly syndrome				18	42					0	0	1	0	0	T	111319659	C	T	111319659	3	4	319	1	0	0	0	0	1	0	0	0	3070	507	18	2	1063	2	CD96	3	111319659	Missense_Mutation	SNP	C	TCGA-HT-A615-01A-11D-A29Q-08		111319659	86702771	11	30333											
PPM1L	151742	broad.mit.edu	37	3	160786805	160786805	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HT-A615-01A-11D-A29Q-08	TCGA-HT-A615-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb574e00-e564-4dda-972c-dc25f4b07540	c83749e7-fee4-46ed-8263-ae642aee2429	g.chr3:160786805C>T	ENST00000498165.1	+	4	1044	c.943C>T	c.(943-945)Cga>Tga	p.R315*	PPM1L_ENST00000295839.9_Nonsense_Mutation_p.R188*|PPM1L_ENST00000464260.1_Nonsense_Mutation_p.R136*|PPM1L_ENST00000480117.1_3'UTR	NM_139245.2	NP_640338.2	Q5SGD2	PPM1L_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1L	315	PP2C-like.				protein dephosphorylation|sphingolipid metabolic process	endoplasmic reticulum membrane|integral to membrane|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity	p.R315*(2)|p.R136*(2)		breast(1)|endometrium(1)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13			Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216)			AGAAGCAGTTCGATTCATCAA	0.473													4	96					0	0	1	0	0	T	160786805	C	T	160786805	4	4	319	1	0	0	0	0	0	1	0	0	12393	876	31	1	957	1	PPM1L	3	160786805	Nonsense_Mutation	SNP	C	TCGA-HT-A615-01A-11D-A29Q-08	49467146	160786805	37235625	12	30334											
SLIT2	9353	broad.mit.edu	37	4	20618726	20618726	+	Silent	SNP	G	G	A			TCGA-HT-A615-01A-11D-A29Q-08	TCGA-HT-A615-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb574e00-e564-4dda-972c-dc25f4b07540	c83749e7-fee4-46ed-8263-ae642aee2429	g.chr4:20618726G>A	ENST00000504154.1	+	35	4293	c.4041G>A	c.(4039-4041)caG>caA	p.Q1347Q	SLIT2_ENST00000273739.5_Silent_p.Q1360Q|SLIT2_ENST00000503837.1_Silent_p.Q1343Q|SLIT2_ENST00000503823.1_Silent_p.Q1339Q	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	1347	EGF-like 7.				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						GCACATGCCAGCCCAGCAGCC	0.577													7	72					0	0	1	0	0	A	20618726	G	A	20618726	2	1	319	1	0	0	0	0	0	0	0	1	14794	962	34	2		2	SLIT2	4	20618726	Silent	SNP	G	TCGA-HT-A615-01A-11D-A29Q-08		20618726	170535550	13	30335											
ATP8A1	10396	broad.mit.edu	37	4	42414962	42414962	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-A615-01A-11D-A29Q-08	TCGA-HT-A615-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb574e00-e564-4dda-972c-dc25f4b07540	c83749e7-fee4-46ed-8263-ae642aee2429	g.chr4:42414962T>C	ENST00000381668.5	-	37	3697	c.3466A>G	c.(3466-3468)Acc>Gcc	p.T1156A	ATP8A1_ENST00000264449.10_Missense_Mutation_p.T1141A	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	1156					ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	TGTTTCGTGGTATCATATGCT	0.463													10	38					0	0	1	0	0	C	42414962	T	C	42414962	3	2	319	1	0	0	0	0	1	0	0	0	1190	1638	57	3	32	3	ATP8A1	4	42414962	Missense_Mutation	SNP	T	TCGA-HT-A615-01A-11D-A29Q-08	21796236	42414962	148739314	14	30336											
FAT4	79633	broad.mit.edu	37	4	126373545	126373545	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A615-01A-11D-A29Q-08	TCGA-HT-A615-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb574e00-e564-4dda-972c-dc25f4b07540	c83749e7-fee4-46ed-8263-ae642aee2429	g.chr4:126373545C>T	ENST00000394329.3	+	9	11387	c.11374C>T	c.(11374-11376)Cgg>Tgg	p.R3792W	FAT4_ENST00000335110.5_Missense_Mutation_p.R2090W	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3792					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GATCCTTCTCCGGCAGAGTGG	0.483													18	55					0	0	1	0	0	T	126373545	C	T	126373545	3	4	319	1	0	0	0	0	1	0	0	0	5725	643	23	1	11408	1	FAT4	4	126373545	Missense_Mutation	SNP	C	TCGA-HT-A615-01A-11D-A29Q-08	83958583	126373545	64780731	15	30337											
TERT	7015	broad.mit.edu	37	5	1294250	1294250	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A615-01A-11D-A29Q-08	TCGA-HT-A615-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb574e00-e564-4dda-972c-dc25f4b07540	c83749e7-fee4-46ed-8263-ae642aee2429	g.chr5:1294250C>T	ENST00000310581.5	-	2	808	c.751G>A	c.(751-753)Gtt>Att	p.V251I	TERT_ENST00000334602.6_Missense_Mutation_p.V251I|TERT_ENST00000296820.5_Missense_Mutation_p.V251I|TERT_ENST00000508104.2_Missense_Mutation_p.V251I	NM_001193376.1|NM_198253.2	NP_001180305.1|NP_937983.2	O14746	TERT_HUMAN	telomerase reverse transcriptase	251	Linker.				anti-apoptosis|DNA strand elongation|replicative senescence|telomere formation via telomerase|telomere maintenance via telomerase	cytoplasm|nucleolus|PML body|telomerase holoenzyme complex	protein homodimerization activity|telomeric DNA binding|telomeric RNA binding|telomeric template RNA reverse transcriptase activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	41	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			CCCTGCCCAACGGGCGTCCGC	0.726									TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis				6	8					0	0	1	0	0	T	1294250	C	T	1294250	3	4	319	1	0	0	0	0	1	0	0	0	15823	536	19	1	2707	1	TERT	5	1294250	Missense_Mutation	SNP	C	TCGA-HT-A615-01A-11D-A29Q-08		1294250	179621010	16	30338											
KIF4B	285643	broad.mit.edu	37	5	154395557	154395557	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A615-01A-11D-A29Q-08	TCGA-HT-A615-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb574e00-e564-4dda-972c-dc25f4b07540	c83749e7-fee4-46ed-8263-ae642aee2429	g.chr5:154395557G>A	ENST00000435029.4	+	1	2298	c.2138G>A	c.(2137-2139)cGa>cAa	p.R713Q		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	713	Interaction with PRC1 (By similarity).				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity	p.G748V(2)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			GCCAACAAGCGACTCAAGGAT	0.483													28	72					0	0	1	0	0	A	154395557	G	A	154395557	3	1	319	1	0	0	0	0	1	0	0	0	8346	1058	37	1	2140	1	KIF4B	5	154395557	Missense_Mutation	SNP	G	TCGA-HT-A615-01A-11D-A29Q-08	153101307	154395557	26519703	17	30339											
GPRC6A	222545	broad.mit.edu	37	6	117130562	117130562	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A615-01A-11D-A29Q-08	TCGA-HT-A615-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb574e00-e564-4dda-972c-dc25f4b07540	c83749e7-fee4-46ed-8263-ae642aee2429	g.chr6:117130562G>A	ENST00000310357.3	-	2	434	c.413C>T	c.(412-414)cCa>cTa	p.P138L	GPRC6A_ENST00000368549.3_Missense_Mutation_p.P138L|GPRC6A_ENST00000530250.1_Missense_Mutation_p.P138L	NM_148963.2	NP_683766.2	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, family C, group 6, member A	138					response to amino acid stimulus		G-protein coupled receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		CTTAACTCTTGGCATGTAGCT	0.443													13	37					0	0	1	0	0	A	117130562	G	A	117130562	3	1	319	1	0	0	0	0	1	0	0	0	6769	1348	47	2	2387	2	GPRC6A	6	117130562	Missense_Mutation	SNP	G	TCGA-HT-A615-01A-11D-A29Q-08		117130562	53984505	18	30340											
CLIP2	7461	broad.mit.edu	37	7	73770855	73770855	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A615-01A-11D-A29Q-08	TCGA-HT-A615-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb574e00-e564-4dda-972c-dc25f4b07540	c83749e7-fee4-46ed-8263-ae642aee2429	g.chr7:73770855G>A	ENST00000223398.6	+	5	1246	c.919G>A	c.(919-921)Ggt>Agt	p.G307S	CLIP2_ENST00000361545.5_Missense_Mutation_p.G307S|CLIP2_ENST00000395060.1_Missense_Mutation_p.G307S	NM_003388.4	NP_003379	Q9UDT6	CLIP2_HUMAN	CAP-GLY domain containing linker protein 2	307						microtubule associated complex				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						TATGGCCATGGGTGTGTCAGC	0.617													26	66					0	0	1	0	0	A	73770855	G	A	73770855	3	1	319	1	0	0	0	0	1	0	0	0	3556	1232	43	2	933	2	CLIP2	7	73770855	Missense_Mutation	SNP	G	TCGA-HT-A615-01A-11D-A29Q-08		73770855	85367808	19	30341											
BLK	640	broad.mit.edu	37	8	11400849	11400849	+	Missense_Mutation	SNP	C	C	T	rs142352008	byFrequency	TCGA-HT-A615-01A-11D-A29Q-08	TCGA-HT-A615-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb574e00-e564-4dda-972c-dc25f4b07540	c83749e7-fee4-46ed-8263-ae642aee2429	g.chr8:11400849C>T	ENST00000259089.4	+	2	708	c.116C>T	c.(115-117)cCg>cTg	p.P39L	BLK_ENST00000529894.1_Intron	NM_001715.2	NP_001706.2	P51451	BLK_HUMAN	B lymphoid tyrosine kinase	39					intracellular protein kinase cascade|positive regulation of insulin secretion		ATP binding|non-membrane spanning protein tyrosine kinase activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(4)|stomach(1)	27			STAD - Stomach adenocarcinoma(15;0.00391)	COAD - Colon adenocarcinoma(149;0.207)		CCGCCACTGCCGCCCCTGGTG	0.532													17	17					0	0	1	0	0	T	11400849	C	T	11400849	3	4	319	1	0	0	0	0	1	0	0	0	1443	652	23	1	118	1	BLK	8	11400849	Missense_Mutation	SNP	C	TCGA-HT-A615-01A-11D-A29Q-08		11400849	134963173	20	30342											
API5	8539	broad.mit.edu	37	11	43343605	43343605	+	Silent	SNP	C	C	T			TCGA-HT-A615-01A-11D-A29Q-08	TCGA-HT-A615-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb574e00-e564-4dda-972c-dc25f4b07540	c83749e7-fee4-46ed-8263-ae642aee2429	g.chr11:43343605C>T	ENST00000378852.3	+	5	587	c.462C>T	c.(460-462)ttC>ttT	p.F154F	API5_ENST00000534695.1_Intron|API5_ENST00000455725.2_Silent_p.F143F|API5_ENST00000531273.1_Silent_p.F154F|API5_ENST00000420461.2_Silent_p.F100F|API5_ENST00000534600.1_Silent_p.F154F	NM_001142930.1|NM_006595.3	NP_001136402.1|NP_006586.1	Q9BZZ5	API5_HUMAN	apoptosis inhibitor 5	154					anti-apoptosis|apoptosis	cytoplasm|spliceosomal complex	fibroblast growth factor binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	20						CAATTAAATTCCTTTCTACAA	0.378													20	46					0	0	1	0	0	T	43343605	C	T	43343605	2	4	319	1	0	0	0	0	0	0	0	1	769	854	30	2		2	API5	11	43343605	Silent	SNP	C	TCGA-HT-A615-01A-11D-A29Q-08		43343605	91662911	21	30343											
CRY2	1408	broad.mit.edu	37	11	45891723	45891723	+	Silent	SNP	C	C	T			TCGA-HT-A615-01A-11D-A29Q-08	TCGA-HT-A615-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb574e00-e564-4dda-972c-dc25f4b07540	c83749e7-fee4-46ed-8263-ae642aee2429	g.chr11:45891723C>T	ENST00000443527.2	+	8	1399	c.1377C>T	c.(1375-1377)ggC>ggT	p.G459G	CRY2_ENST00000417225.2_Silent_p.G377G	NM_021117.3	NP_066940.2	Q49AN0	CRY2_HUMAN	cryptochrome 2 (photolyase-like)	438	FAD-binding.|Required for inhibition of CLOCK-ARNTL- mediated transcription (By similarity).				DNA repair|protein-chromophore linkage|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	blue light photoreceptor activity|damaged DNA binding|DNA photolyase activity|nucleotide binding|protein binding|single-stranded DNA binding	p.G438G(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(2)	15						TGGGCTTTGGCCGTCGCACGG	0.587													4	101					0	0	1	0	0	T	45891723	C	T	45891723	2	4	319	1	0	0	0	0	0	0	0	1	3927	726	26	2		2	CRY2	11	45891723	Silent	SNP	C	TCGA-HT-A615-01A-11D-A29Q-08	2548118	45891723	89114793	22	30344											
OR4X1	390113	broad.mit.edu	37	11	48285528	48285528	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A615-01A-11D-A29Q-08	TCGA-HT-A615-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb574e00-e564-4dda-972c-dc25f4b07540	c83749e7-fee4-46ed-8263-ae642aee2429	g.chr11:48285528G>A	ENST00000320048.1	+	1	116	c.116G>A	c.(115-117)gGc>gAc	p.G39D		NM_001004726.1	NP_001004726.1	Q8NH49	OR4X1_HUMAN	olfactory receptor, family 4, subfamily X, member 1 (gene/pseudogene)	39					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	28						GTTGTGCTGGGCAATGGCCTC	0.463													11	30					0	0	1	0	0	A	48285528	G	A	48285528	3	1	319	1	0	0	0	0	1	0	0	0	11132	1203	42	2	118	2	OR4X1	11	48285528	Missense_Mutation	SNP	G	TCGA-HT-A615-01A-11D-A29Q-08	2393805	48285528	86720988	23	30345											
MYO7A	4647	broad.mit.edu	37	11	76873968	76873968	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-A615-01A-11D-A29Q-08	TCGA-HT-A615-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb574e00-e564-4dda-972c-dc25f4b07540	c83749e7-fee4-46ed-8263-ae642aee2429	g.chr11:76873968A>G	ENST00000409709.3	+	14	1896	c.1624A>G	c.(1624-1626)Aag>Gag	p.K542E	MYO7A_ENST00000409893.1_Missense_Mutation_p.K542E|MYO7A_ENST00000409619.2_Missense_Mutation_p.K531E|MYO7A_ENST00000458637.2_Missense_Mutation_p.K542E	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	542	Myosin head-like.				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						CATCCCCCCCAAGAACAACCA	0.567													97	156					0	0	1	0	0	G	76873968	A	G	76873968	3	3	319	1	0	0	0	0	1	0	0	0	10130	131	5	3	1674	3	MYO7A	11	76873968	Missense_Mutation	SNP	A	TCGA-HT-A615-01A-11D-A29Q-08	28588440	76873968	58132548	24	30346											
SSH1	54434	broad.mit.edu	37	12	109183011	109183011	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-A615-01A-11D-A29Q-08	TCGA-HT-A615-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb574e00-e564-4dda-972c-dc25f4b07540	c83749e7-fee4-46ed-8263-ae642aee2429	g.chr12:109183011T>C	ENST00000326495.5	-	15	1996	c.1903A>G	c.(1903-1905)Ata>Gta	p.I635V	SSH1_ENST00000360239.3_Missense_Mutation_p.I323V	NM_018984.3	NP_061857.3	Q8WYL5	SSH1_HUMAN	slingshot protein phosphatase 1	635					actin cytoskeleton organization|cell morphogenesis|cellular response to ATP|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of cellular protein metabolic process|regulation of lamellipodium assembly	cleavage furrow|cytoplasm|cytoskeleton|lamellipodium|midbody|plasma membrane	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						ATCCCAAATATAGCATCATCC	0.547													4	12					0	0	1	0	0	C	109183011	T	C	109183011	3	2	319	1	0	0	0	0	1	0	0	0	15240	1406	49	3	1250	3	SSH1	12	109183011	Missense_Mutation	SNP	T	TCGA-HT-A615-01A-11D-A29Q-08		109183011	24668884	25	30347											
POSTN	10631	broad.mit.edu	37	13	38171320	38171320	+	Splice_Site	SNP	C	C	T			TCGA-HT-A615-01A-11D-A29Q-08	TCGA-HT-A615-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb574e00-e564-4dda-972c-dc25f4b07540	c83749e7-fee4-46ed-8263-ae642aee2429	g.chr13:38171320C>T	ENST00000379747.4	-	2	336		c.e2+1		POSTN_ENST00000379742.4_Splice_Site|POSTN_ENST00000379749.4_Splice_Site|POSTN_ENST00000379743.4_Splice_Site|POSTN_ENST00000541179.1_Splice_Site|POSTN_ENST00000541481.1_Splice_Site	NM_006475.2	NP_006466.2	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor						cell adhesion|skeletal system development	proteinaceous extracellular matrix	heparin binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		AAGAGACTTACGTTTTCTGTC	0.378													10	13					0	0	1	0	0	T	38171320	C	T	38171320	5	4	319	1	0	0	0	0	0	0	1	0	12307	550	19	1	2379	1	POSTN	13	38171320	Splice_Site	SNP	C	TCGA-HT-A615-01A-11D-A29Q-08		38171320	76998558	26	30348											
SYNM	23336	broad.mit.edu	37	15	99673043	99673043	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A615-01A-11D-A29Q-08	TCGA-HT-A615-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb574e00-e564-4dda-972c-dc25f4b07540	c83749e7-fee4-46ed-8263-ae642aee2429	g.chr15:99673043C>T	ENST00000336292.6	+	5	4595	c.4475C>T	c.(4474-4476)gCg>gTg	p.A1492V	SYNM_ENST00000560674.1_Missense_Mutation_p.A895V|SYNM_ENST00000561323.1_3'UTR|SYNM_ENST00000328642.7_Missense_Mutation_p.A1180V	NM_145728.2	NP_663780.2	O15061	SYNEM_HUMAN	synemin, intermediate filament protein	1493	Interaction with DMD and UTRN.|Tail.				intermediate filament cytoskeleton organization	adherens junction|costamere|intermediate filament|neurofilament cytoskeleton	intermediate filament binding|structural constituent of cytoskeleton|structural constituent of muscle|vinculin binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(6)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	29						TGGAGAGACGCGGACAGTAGG	0.572													4	125					0	0	1	0	0	T	99673043	C	T	99673043	3	4	319	1	0	0	0	0	1	0	0	0	15512	768	27	1	4491	1	SYNM	15	99673043	Missense_Mutation	SNP	C	TCGA-HT-A615-01A-11D-A29Q-08		99673043	2858349	27	30349											
PPL	5493	broad.mit.edu	37	16	4944606	4944606	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A615-01A-11D-A29Q-08	TCGA-HT-A615-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb574e00-e564-4dda-972c-dc25f4b07540	c83749e7-fee4-46ed-8263-ae642aee2429	g.chr16:4944606C>T	ENST00000345988.2	-	12	1345	c.1256G>A	c.(1255-1257)cGg>cAg	p.R419Q	PPL_ENST00000590782.2_Missense_Mutation_p.R417Q	NM_002705.4	NP_002696	O60437	PEPL_HUMAN	periplakin	419					keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						GCTGTAGCCCCGCGAGATCAG	0.647													18	45					0	0	1	0	0	T	4944606	C	T	4944606	3	4	319	1	0	0	0	0	1	0	0	0	12383	652	23	1	4058	1	PPL	16	4944606	Missense_Mutation	SNP	C	TCGA-HT-A615-01A-11D-A29Q-08		4944606	85410147	28	30350											
CDYL2	124359	broad.mit.edu	37	16	80718589	80718589	+	Silent	SNP	G	G	A	rs140729164		TCGA-HT-A615-01A-11D-A29Q-08	TCGA-HT-A615-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb574e00-e564-4dda-972c-dc25f4b07540	c83749e7-fee4-46ed-8263-ae642aee2429	g.chr16:80718589G>A	ENST00000570137.2	-	2	617	c.462C>T	c.(460-462)aaC>aaT	p.N154N	CDYL2_ENST00000562812.1_Silent_p.N154N|CDYL2_ENST00000566173.1_Silent_p.N154N|CDYL2_ENST00000563890.1_Silent_p.N154N|CDYL2_ENST00000562753.1_5'UTR	NM_152342.2	NP_689555.2	Q8N8U2	CDYL2_HUMAN	chromodomain protein, Y-like 2							nucleus	catalytic activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	21						TTTCCATCCCGTTCTGAGACT	0.532													23	73					0	0	1	0	0	A	80718589	G	A	80718589	2	1	319	1	0	0	0	0	0	0	0	1	3208	1136	40	1		1	CDYL2	16	80718589	Silent	SNP	G	TCGA-HT-A615-01A-11D-A29Q-08	75773983	80718589	9636164	29	30351											
MRM1	79922	broad.mit.edu	37	17	34958397	34958397	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-A615-01A-11D-A29Q-08	TCGA-HT-A615-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb574e00-e564-4dda-972c-dc25f4b07540	c83749e7-fee4-46ed-8263-ae642aee2429	g.chr17:34958397T>C	ENST00000250156.7	+	1	397	c.158T>C	c.(157-159)tTt>tCt	p.F53S	MRM1_ENST00000585770.1_5'UTR	NM_024864.3	NP_079140.2	Q6IN84	MRM1_HUMAN	mitochondrial rRNA methyltransferase 1 homolog (S. cerevisiae)	53					RNA processing	mitochondrion	RNA binding|RNA methyltransferase activity			NS(1)|endometrium(1)|large_intestine(2)|lung(1)	5		Breast(25;0.00957)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0184)		GAGCTTCTGTTTGGCATGACC	0.692													45	102					0	0	1	0	0	C	34958397	T	C	34958397	3	2	319	1	0	0	0	0	1	0	0	0	9820	1841	64	3	160	3	MRM1	17	34958397	Missense_Mutation	SNP	T	TCGA-HT-A615-01A-11D-A29Q-08		34958397	46236813	30	30352											
CBLC	23624	broad.mit.edu	37	19	45284225	45284225	+	Silent	SNP	C	C	T			TCGA-HT-A615-01A-11D-A29Q-08	TCGA-HT-A615-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb574e00-e564-4dda-972c-dc25f4b07540	c83749e7-fee4-46ed-8263-ae642aee2429	g.chr19:45284225C>T	ENST00000270279.3	+	2	480	c.417C>T	c.(415-417)ttC>ttT	p.F139F	CBLC_ENST00000341505.4_Silent_p.F139F	NM_012116.3	NP_036248.3	Q9ULV8	CBLC_HUMAN	Cbl proto-oncogene C, E3 ubiquitin protein ligase	139	4H.|Cbl-PTB.				cell surface receptor linked signaling pathway|negative regulation of epidermal growth factor receptor activity|negative regulation of MAP kinase activity|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	calcium ion binding|epidermal growth factor receptor binding|phosphotyrosine binding|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|kidney(1)|lung(6)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Lung NSC(12;0.00136)|all_lung(12;0.00371)	Ovarian(192;0.231)				ACGCACTCTTCCCCGGGGGAA	0.617			M		AML								28	31					0	0	1	0	0	T	45284225	C	T	45284225	2	4	319	1	0	0	0	0	0	0	0	1	2720	854	30	2		2	CBLC	19	45284225	Silent	SNP	C	TCGA-HT-A615-01A-11D-A29Q-08		45284225	13844758	31	30353											
NLRP5	126206	broad.mit.edu	37	19	56515295	56515295	+	Silent	SNP	C	C	T			TCGA-HT-A615-01A-11D-A29Q-08	TCGA-HT-A615-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb574e00-e564-4dda-972c-dc25f4b07540	c83749e7-fee4-46ed-8263-ae642aee2429	g.chr19:56515295C>T	ENST00000390649.3	+	2	276	c.276C>T	c.(274-276)acC>acT	p.T92T		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	92	DAPIN.					mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		CAGAATCGACCACATGCTCTA	0.453													17	18					0	0	1	0	0	T	56515295	C	T	56515295	2	4	319	1	0	0	0	0	0	0	0	1	10527	581	21	2		2	NLRP5	19	56515295	Silent	SNP	C	TCGA-HT-A615-01A-11D-A29Q-08	11231070	56515295	2613688	32	30354											
ARHGAP6	395	broad.mit.edu	37	X	11174686	11174686	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A615-01A-11D-A29Q-08	TCGA-HT-A615-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb574e00-e564-4dda-972c-dc25f4b07540	c83749e7-fee4-46ed-8263-ae642aee2429	g.chrX:11174686C>T	ENST00000337414.4	-	10	2742	c.1870G>A	c.(1870-1872)Gtg>Atg	p.V624M	ARHGAP6_ENST00000380732.3_Missense_Mutation_p.V656M|ARHGAP6_ENST00000380718.1_Missense_Mutation_p.V624M|ARHGAP6_ENST00000534860.1_Missense_Mutation_p.V449M|ARHGAP6_ENST00000380736.1_Missense_Mutation_p.V421M|ARHGAP6_ENST00000303025.6_Missense_Mutation_p.V421M|ARHGAP6_ENST00000413512.3_Missense_Mutation_p.V433M	NM_013427.2	NP_038286.2	O43182	RHG06_HUMAN	Rho GTPase activating protein 6	624					actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly|Rho protein signal transduction	actin filament|cytosol	phospholipase activator activity|phospholipase binding|Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						AAATAGTCCACGACATCAGGA	0.443													11	23					0	0	1	0	0	T	11174686	C	T	11174686	3	4	319	1	0	0	0	0	1	0	0	0	884	536	19	1	1192	1	ARHGAP6	23	11174686	Missense_Mutation	SNP	C	TCGA-HT-A615-01A-11D-A29Q-08		11174686	144095874	33	30355											
GRPR	2925	broad.mit.edu	37	X	16142351	16142351	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A615-01A-11D-A29Q-08	TCGA-HT-A615-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb574e00-e564-4dda-972c-dc25f4b07540	c83749e7-fee4-46ed-8263-ae642aee2429	g.chrX:16142351C>T	ENST00000380289.2	+	1	673	c.275C>T	c.(274-276)aCg>aTg	p.T92M		NM_005314.2	NP_005305.1	P30550	GRPR_HUMAN	gastrin-releasing peptide receptor	92					cell proliferation	integral to plasma membrane	bombesin receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(3)|stomach(1)|upper_aerodigestive_tract(3)	25	Hepatocellular(33;0.183)					CTCCTAATAACGTGTGCTCCA	0.488											OREG0019682	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	54	98					0	0	1	0	0	T	16142351	C	T	16142351	3	4	319	1	0	0	0	0	1	0	0	0	6849	536	19	1	277	1	GRPR	23	16142351	Missense_Mutation	SNP	C	TCGA-HT-A615-01A-11D-A29Q-08	4967665	16142351	139128209	34	30356											
ZNF645	158506	broad.mit.edu	37	X	22291550	22291550	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A615-01A-11D-A29Q-08	TCGA-HT-A615-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb574e00-e564-4dda-972c-dc25f4b07540	c83749e7-fee4-46ed-8263-ae642aee2429	g.chrX:22291550G>A	ENST00000323684.1	+	1	486	c.442G>A	c.(442-444)Gct>Act	p.A148T		NM_152577.3	NP_689790.1	Q8N7E2	ZN645_HUMAN	zinc finger protein 645	148						intracellular	zinc ion binding			cervix(1)|endometrium(4)|large_intestine(8)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1)	27						AGTTACCAGCGCTTCGCTTGA	0.438													39	55					0	0	1	0	0	A	22291550	G	A	22291550	3	1	319	1	0	0	0	0	1	0	0	0	18118	1087	38	1	444	1	ZNF645	23	22291550	Missense_Mutation	SNP	G	TCGA-HT-A615-01A-11D-A29Q-08	6149199	22291550	132979010	35	30357											
GPR34	2857	broad.mit.edu	37	X	41555137	41555137	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A615-01A-11D-A29Q-08	TCGA-HT-A615-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb574e00-e564-4dda-972c-dc25f4b07540	c83749e7-fee4-46ed-8263-ae642aee2429	g.chrX:41555137G>A	ENST00000378142.4	+	3	535	c.251G>A	c.(250-252)cGt>cAt	p.R84H	CASK_ENST00000378154.1_Intron|CASK_ENST00000442742.2_Intron|CASK_ENST00000361962.4_Intron|CASK_ENST00000318588.9_Intron|CASK_ENST00000378166.4_Intron|CASK_ENST00000378158.1_Intron|CASK_ENST00000421587.2_Intron|GPR34_ENST00000378138.5_Missense_Mutation_p.R84H|CASK_ENST00000378163.1_Intron	NM_001097579.1|NM_005300.3	NP_001091048.1|NP_005291.1	Q9UPC5	GPR34_HUMAN	G protein-coupled receptor 34	84						integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	p.R84H(1)		breast(1)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	14						GGTATTCACCGTAAAAGAAAT	0.383													4	126					0	0	1	0	0	A	41555137	G	A	41555137	3	1	319	1	0	0	0	0	1	0	0	0	6729	1145	40	1	253	1	GPR34	23	41555137	Missense_Mutation	SNP	G	TCGA-HT-A615-01A-11D-A29Q-08	19263587	41555137	113715423	36	30358											
GRIPAP1	56850	broad.mit.edu	37	X	48830666	48830666	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A615-01A-11D-A29Q-08	TCGA-HT-A615-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb574e00-e564-4dda-972c-dc25f4b07540	c83749e7-fee4-46ed-8263-ae642aee2429	g.chrX:48830666C>T	ENST00000376441.1	-	26	2499	c.2465G>A	c.(2464-2466)cGg>cAg	p.R822Q	GRIPAP1_ENST00000376444.3_Missense_Mutation_p.R777Q|GRIPAP1_ENST00000376425.3_Missense_Mutation_p.R791Q	NM_020137.3	NP_064522.3	Q4V328	GRAP1_HUMAN	GRIP1 associated protein 1	822						early endosome		p.R465Q(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(2)	10						CTTGCTGAGCCGCACAATTTC	0.567													9	24					0	0	1	0	0	T	48830666	C	T	48830666	3	4	319	1	0	0	0	0	1	0	0	0	6830	652	23	1	64	1	GRIPAP1	23	48830666	Missense_Mutation	SNP	C	TCGA-HT-A615-01A-11D-A29Q-08	7275529	48830666	106439894	37	30359											
ZC4H2	55906	broad.mit.edu	37	X	64139085	64139085	+	Splice_Site	SNP	C	C	A			TCGA-HT-A615-01A-11D-A29Q-08	TCGA-HT-A615-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb574e00-e564-4dda-972c-dc25f4b07540	c83749e7-fee4-46ed-8263-ae642aee2429	g.chrX:64139085C>A	ENST00000545618.1	-	5	947		c.e5-1		ZC4H2_ENST00000447788.2_Intron|ZC4H2_ENST00000374839.3_Splice_Site|ZC4H2_ENST00000488608.1_5'UTR|ZC4H2_ENST00000337990.2_Splice_Site			Q9NQZ6	ZC4H2_HUMAN	zinc finger, C4H2 domain containing								metal ion binding|protein binding			endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						CTCAAAGTAACTTTGGAGATG	0.532													21	49					7.87624e-14	8.0221e-14	1	1	0	A	64139085	C	A	64139085	5	1	319	1	0	0	0	0	0	0	1	0	17637	579	20	4	303	4	ZC4H2	23	64139085	Splice_Site	SNP	C	TCGA-HT-A615-01A-11D-A29Q-08	15308419	64139085	91131475	38	30360											
DLG3	1741	broad.mit.edu	37	X	69669655	69669655	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HT-A615-01A-11D-A29Q-08	TCGA-HT-A615-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb574e00-e564-4dda-972c-dc25f4b07540	c83749e7-fee4-46ed-8263-ae642aee2429	g.chrX:69669655C>T	ENST00000194900.4	+	5	1044	c.703C>T	c.(703-705)Cga>Tga	p.R235*	DLG3_ENST00000374360.3_Nonsense_Mutation_p.R217*			Q92796	DLG3_HUMAN	discs, large homolog 3 (Drosophila)	217	PDZ 2.				axon guidance|negative regulation of cell proliferation|synaptic transmission	plasma membrane	guanylate kinase activity			endometrium(4)|kidney(1)|large_intestine(10)|lung(5)|pancreas(1)|urinary_tract(1)	22	Renal(35;0.156)					GGTGCGGAGGCGACAGCCTCC	0.662													8	16					0	0	1	0	0	T	69669655	C	T	69669655	4	4	319	1	0	0	0	0	0	1	0	0	4584	760	27	1	663	1	DLG3	23	69669655	Nonsense_Mutation	SNP	C	TCGA-HT-A615-01A-11D-A29Q-08	5530570	69669655	85600905	39	30361											
TMEM164	84187	broad.mit.edu	37	X	109416566	109416566	+	Missense_Mutation	SNP	A	A	C			TCGA-HT-A615-01A-11D-A29Q-08	TCGA-HT-A615-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb574e00-e564-4dda-972c-dc25f4b07540	c83749e7-fee4-46ed-8263-ae642aee2429	g.chrX:109416566A>C	ENST00000372073.1	+	7	1117	c.781A>C	c.(781-783)Act>Cct	p.T261P	TMEM164_ENST00000372068.2_Missense_Mutation_p.T261P|TMEM164_ENST00000288381.4_Missense_Mutation_p.T222P|TMEM164_ENST00000372072.3_Missense_Mutation_p.T112P|TMEM164_ENST00000464177.1_3'UTR			Q5U3C3	TM164_HUMAN	transmembrane protein 164	261						integral to membrane				cervix(1)|endometrium(1)|large_intestine(5)|lung(6)|skin(1)	14						GGGACACCAGACTCTCATGAC	0.552													28	68					0	0	1	0	0	C	109416566	A	C	109416566	3	2	319	1	0	0	0	0	1	0	0	0	16139	275	10	5	803	5	TMEM164	23	109416566	Missense_Mutation	SNP	A	TCGA-HT-A615-01A-11D-A29Q-08	39746911	109416566	45853994	40	30362											
CUL4B	8450	broad.mit.edu	37	X	119669687	119669687	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-A615-01A-11D-A29Q-08	TCGA-HT-A615-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb574e00-e564-4dda-972c-dc25f4b07540	c83749e7-fee4-46ed-8263-ae642aee2429	g.chrX:119669687C>G	ENST00000371322.5	-	16	2219	c.2158G>C	c.(2158-2160)Gag>Cag	p.E720Q	CUL4B_ENST00000404115.3_Missense_Mutation_p.E738Q|CUL4B_ENST00000336592.6_Missense_Mutation_p.E725Q	NM_001079872.1	NP_001073341.1	Q13620	CUL4B_HUMAN	cullin 4B	738					cell cycle|DNA repair|ubiquitin-dependent protein catabolic process	Cul4B-RING ubiquitin ligase complex|nucleus	protein binding|ubiquitin protein ligase binding	p.E720Q(1)|p.E738Q(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						CCACTTACCTCTTTAAATTCT	0.353													44	119					0	0	1	0	0	G	119669687	C	G	119669687	3	3	319	1	0	0	0	0	1	0	0	0	4081	922	32	4	549	4	CUL4B	23	119669687	Missense_Mutation	SNP	C	TCGA-HT-A615-01A-11D-A29Q-08	10253121	119669687	35600873	41	30363											
CSAG1	158511	broad.mit.edu	37	X	151908875	151908875	+	Missense_Mutation	SNP	G	G	C			TCGA-HT-A615-01A-11D-A29Q-08	TCGA-HT-A615-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb574e00-e564-4dda-972c-dc25f4b07540	c83749e7-fee4-46ed-8263-ae642aee2429	g.chrX:151908875G>C	ENST00000370291.2	+	4	394	c.114G>C	c.(112-114)agG>agC	p.R38S	CSAG1_ENST00000452779.2_Missense_Mutation_p.R38S|CSAG1_ENST00000370287.3_Missense_Mutation_p.R38S			Q6PB30	CSAG1_HUMAN	chondrosarcoma associated gene 1	38										central_nervous_system(1)|kidney(1)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	7	Acute lymphoblastic leukemia(192;6.56e-05)					AGATGTCCAGGAAACCACGAG	0.572													21	359					0	0	1	0	0	C	151908875	G	C	151908875	3	2	319	1	0	0	0	0	1	0	0	0	3949	1165	41	5	120	5	CSAG1	23	151908875	Missense_Mutation	SNP	G	TCGA-HT-A615-01A-11D-A29Q-08	32239188	151908875	3361685	42	30364											
PLXNA3	55558	broad.mit.edu	37	X	153688564	153688565	+	Frame_Shift_Ins	INS	-	-	G			TCGA-HT-A615-01A-11D-A29Q-08	TCGA-HT-A615-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb574e00-e564-4dda-972c-dc25f4b07540	c83749e7-fee4-46ed-8263-ae642aee2429	g.chrX:153688564_153688565insG	ENST00000369682.3	+	2	216_217	c.41_42insG	c.(40-45)gtggggfs	p.VG14fs		NM_017514.3	NP_059984.3	P51805	PLXA3_HUMAN	plexin A3	14					axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity	p.A17fs*39(1)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TTCCTTGCCGTGGGGGGGGCCC	0.683													8	94	---	---	---	---						G	153688565	-	G	153688564	7	5	319	1	0	1	1	0	0	0	0	0	12169	1696	59	0	43	0	PLXNA3	23	153688564	Frame_Shift_Ins	INS	-	TCGA-HT-A615-01A-11D-A29Q-08	1779689	153688564	1581996	43	30365											
KHDRBS1	10657	broad.mit.edu	37	1	32479677	32479677	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HT-A616-01A-11D-A29Q-08	TCGA-HT-A616-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e41fcb0-82bf-4e09-99ba-ff6f56d6f18c	eb5310fc-1426-4b59-b41b-47302c259a6a	g.chr1:32479677delC	ENST00000327300.7	+	1	248	c.81delC	c.(79-81)cacfs	p.H27fs	KHDRBS1_ENST00000492989.1_Frame_Shift_Del_p.H27fs|KHDRBS1_ENST00000307714.8_3'UTR	NM_006559.1	NP_006550.1	Q07666	KHDR1_HUMAN	KH domain containing, RNA binding, signal transduction associated 1	27					cell cycle arrest|cell proliferation|cell surface receptor linked signaling pathway|G2/M transition of mitotic cell cycle|mRNA processing|negative regulation of transcription, DNA-dependent|regulation of RNA export from nucleus|transcription, DNA-dependent	membrane|nucleus	DNA binding|RNA binding|SH3 domain binding|SH3/SH2 adaptor activity			endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	14		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				CCGGTGCCCACCCCTCGGTGC	0.771													2	4	---	---	---	---						-	32479677	C	-	32479677	7	5	320	1	0	1	0	1	0	0	0	0	8188	506	18	0	83	0	KHDRBS1	1	32479677	Frame_Shift_Del	DEL	C	TCGA-HT-A616-01A-11D-A29Q-08		32479677	216770944	1	30366											
KIAA1324	57535	broad.mit.edu	37	1	109741239	109741239	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-A616-01A-11D-A29Q-08	TCGA-HT-A616-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e41fcb0-82bf-4e09-99ba-ff6f56d6f18c	eb5310fc-1426-4b59-b41b-47302c259a6a	g.chr1:109741239C>G	ENST00000369939.3	+	18	2627	c.2444C>G	c.(2443-2445)aCc>aGc	p.T815S	KIAA1324_ENST00000369938.1_3'UTR|KIAA1324_ENST00000529753.1_Missense_Mutation_p.T728S	NM_020775.4	NP_065826	Q6UXG2	K1324_HUMAN	KIAA1324	815					macroautophagy|positive regulation of vacuole organization|regulation of apoptosis	integral to plasma membrane				NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063)		Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249)		AGATCAACCACCATCCGCGTC	0.532													3	16					0	0	1	0	0	G	109741239	C	G	109741239	3	3	320	1	0	0	0	0	1	0	0	0	8265	507	18	5	2514	5	KIAA1324	1	109741239	Missense_Mutation	SNP	C	TCGA-HT-A616-01A-11D-A29Q-08	77261562	109741239	139509382	2	30367											
FLG	2312	broad.mit.edu	37	1	152282001	152282001	+	Silent	SNP	T	T	C			TCGA-HT-A616-01A-11D-A29Q-08	TCGA-HT-A616-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e41fcb0-82bf-4e09-99ba-ff6f56d6f18c	eb5310fc-1426-4b59-b41b-47302c259a6a	g.chr1:152282001T>C	ENST00000368799.1	-	3	5396	c.5361A>G	c.(5359-5361)ggA>ggG	p.G1787G	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1787	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTTGTCTTCCTCCAGTGCTGG	0.597									Ichthyosis				7	392					0	0	1	0	0	C	152282001	T	C	152282001	2	2	320	1	0	0	0	0	0	0	0	1	5955	1538	54	3		3	FLG	1	152282001	Silent	SNP	T	TCGA-HT-A616-01A-11D-A29Q-08	42540762	152282001	96968620	3	30368											
FLG	2312	broad.mit.edu	37	1	152283229	152283229	+	Missense_Mutation	SNP	G	G	C	rs144375884		TCGA-HT-A616-01A-11D-A29Q-08	TCGA-HT-A616-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e41fcb0-82bf-4e09-99ba-ff6f56d6f18c	eb5310fc-1426-4b59-b41b-47302c259a6a	g.chr1:152283229G>C	ENST00000368799.1	-	3	4168	c.4133C>G	c.(4132-4134)gCt>gGt	p.A1378G	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1378	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGCAGATGAAGCTTGTCTGTG	0.532									Ichthyosis				16	555					0	0	1	0	0	C	152283229	G	C	152283229	3	2	320	1	0	0	0	0	1	0	0	0	5955	971	34	4	8056	4	FLG	1	152283229	Missense_Mutation	SNP	G	TCGA-HT-A616-01A-11D-A29Q-08	1228	152283229	96967392	4	30369											
SIPA1L2	57568	broad.mit.edu	37	1	232650368	232650368	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-A616-01A-11D-A29Q-08	TCGA-HT-A616-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e41fcb0-82bf-4e09-99ba-ff6f56d6f18c	eb5310fc-1426-4b59-b41b-47302c259a6a	g.chr1:232650368T>C	ENST00000366630.1	-	2	1076	c.718A>G	c.(718-720)Atc>Gtc	p.I240V	SIPA1L2_ENST00000262861.4_Missense_Mutation_p.I240V			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	240					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				CTCGGAGAGATTGCAGGGTCA	0.473													5	104					0	0	1	0	0	C	232650368	T	C	232650368	3	2	320	1	0	0	0	0	1	0	0	0	14385	1493	52	3	4534	3	SIPA1L2	1	232650368	Missense_Mutation	SNP	T	TCGA-HT-A616-01A-11D-A29Q-08	80367139	232650368	16600253	5	30370											
TTN	7273	broad.mit.edu	37	2	179453926	179453926	+	Silent	SNP	A	A	G			TCGA-HT-A616-01A-11D-A29Q-08	TCGA-HT-A616-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e41fcb0-82bf-4e09-99ba-ff6f56d6f18c	eb5310fc-1426-4b59-b41b-47302c259a6a	g.chr2:179453926A>G	ENST00000589042.1	-	304	62750	c.62526T>C	c.(62524-62526)taT>taC	p.Y20842Y	TTN_ENST00000359218.5_Silent_p.Y11902Y|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Silent_p.Y11969Y|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000591111.1_Silent_p.Y19201Y|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Silent_p.Y18274Y|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Silent_p.Y11777Y|TTN-AS1_ENST00000456053.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	19201	Fibronectin type-III 51.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCGTAACTACATATTTACCCC	0.413													51	64					0	0	1	0	0	G	179453926	A	G	179453926	2	3	320	1	0	0	0	0	0	0	0	1	16797	224	8	3		3	TTN	2	179453926	Silent	SNP	A	TCGA-HT-A616-01A-11D-A29Q-08		179453926	63745447	6	30371											
TTN	7273	broad.mit.edu	37	2	179579894	179579894	+	Silent	SNP	G	G	A			TCGA-HT-A616-01A-11D-A29Q-08	TCGA-HT-A616-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e41fcb0-82bf-4e09-99ba-ff6f56d6f18c	eb5310fc-1426-4b59-b41b-47302c259a6a	g.chr2:179579894G>A	ENST00000589042.1	-	90	26243	c.26019C>T	c.(26017-26019)caC>caT	p.H8673H	TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Silent_p.H8356H|TTN_ENST00000342992.6_Silent_p.H7429H|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	8356	Ig-like 69.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACCAAGAAACGTGAAATGGGG	0.443													62	98					0	0	1	0	0	A	179579894	G	A	179579894	2	1	320	1	0	0	0	0	0	0	0	1	16797	1136	40	1		1	TTN	2	179579894	Silent	SNP	G	TCGA-HT-A616-01A-11D-A29Q-08	125968	179579894	63619479	7	30372											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-HT-A616-01A-11D-A29Q-08	TCGA-HT-A616-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e41fcb0-82bf-4e09-99ba-ff6f56d6f18c	eb5310fc-1426-4b59-b41b-47302c259a6a	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	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								16	44					0	0	1	0	0	T	209113112	C	T	209113112	3	4	320	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HT-A616-01A-11D-A29Q-08	29533218	209113112	34086261	8	30373											
CHCHD4	131474	broad.mit.edu	37	3	14157999	14157999	+	Silent	SNP	G	G	A			TCGA-HT-A616-01A-11D-A29Q-08	TCGA-HT-A616-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e41fcb0-82bf-4e09-99ba-ff6f56d6f18c	eb5310fc-1426-4b59-b41b-47302c259a6a	g.chr3:14157999G>A	ENST00000295767.5	-	3	411	c.87C>T	c.(85-87)acC>acT	p.T29T	CHCHD4_ENST00000396914.3_Silent_p.T16T	NM_144636.2	NP_653237.1	Q8N4Q1	MIA40_HUMAN	coiled-coil-helix-coiled-coil-helix domain containing 4	16					protein transport|transmembrane transport	mitochondrial intermembrane space				kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5						GATCTTCTTTGGTTACAAATA	0.468													4	159					0	0	1	0	0	A	14157999	G	A	14157999	2	1	320	1	0	0	0	0	0	0	0	1	3340	1335	47	2		2	CHCHD4	3	14157999	Silent	SNP	G	TCGA-HT-A616-01A-11D-A29Q-08		14157999	183864431	9	30374											
CCDC54	84692	broad.mit.edu	37	3	107096617	107096617	+	Silent	SNP	C	C	T	rs144553244		TCGA-HT-A616-01A-11D-A29Q-08	TCGA-HT-A616-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e41fcb0-82bf-4e09-99ba-ff6f56d6f18c	eb5310fc-1426-4b59-b41b-47302c259a6a	g.chr3:107096617C>T	ENST00000261058.1	+	1	430	c.183C>T	c.(181-183)gaC>gaT	p.D61D		NM_032600.2	NP_115989.1	Q8NEL0	CCD54_HUMAN	coiled-coil domain containing 54	61								p.D61D(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	19						ATAGTTATGACGGAAAAATGA	0.363													29	81					0	0	1	0	0	T	107096617	C	T	107096617	2	4	320	1	0	0	0	0	0	0	0	1	2844	535	19	1		1	CCDC54	3	107096617	Silent	SNP	C	TCGA-HT-A616-01A-11D-A29Q-08	92938618	107096617	90925813	10	30375											
FAT2	2196	broad.mit.edu	37	5	150917494	150917494	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-A616-01A-11D-A29Q-08	TCGA-HT-A616-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e41fcb0-82bf-4e09-99ba-ff6f56d6f18c	eb5310fc-1426-4b59-b41b-47302c259a6a	g.chr5:150917494C>G	ENST00000261800.5	-	11	9065	c.9053G>C	c.(9052-9054)gGc>gCc	p.G3018A		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	3018	Cadherin 27.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ATGAACCTTGCCAGTATAGAG	0.458													3	52					0	0	1	0	0	G	150917494	C	G	150917494	3	3	320	1	0	0	0	0	1	0	0	0	5723	739	26	5	4048	5	FAT2	5	150917494	Missense_Mutation	SNP	C	TCGA-HT-A616-01A-11D-A29Q-08		150917494	29997766	11	30376											
CAPN11	11131	broad.mit.edu	37	6	44143857	44143857	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A616-01A-11D-A29Q-08	TCGA-HT-A616-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e41fcb0-82bf-4e09-99ba-ff6f56d6f18c	eb5310fc-1426-4b59-b41b-47302c259a6a	g.chr6:44143857G>A	ENST00000542245.1	+	8	922	c.884G>A	c.(883-885)gGg>gAg	p.G295E	CAPN11_ENST00000398776.1_Missense_Mutation_p.G295E			Q9UMQ6	CAN11_HUMAN	calpain 11	295	Calpain catalytic.				proteolysis	acrosomal vesicle	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			breast(3)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	36	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CTGGTGAGAGGGCACGCTTAC	0.557													8	23					0	0	1	0	0	A	44143857	G	A	44143857	3	1	320	1	0	0	0	0	1	0	0	0	2642	1232	43	2	914	2	CAPN11	6	44143857	Missense_Mutation	SNP	G	TCGA-HT-A616-01A-11D-A29Q-08		44143857	126971210	12	30377											
NOTCH1	4851	broad.mit.edu	37	9	139402727	139402727	+	Missense_Mutation	SNP	G	G	C			TCGA-HT-A616-01A-11D-A29Q-08	TCGA-HT-A616-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e41fcb0-82bf-4e09-99ba-ff6f56d6f18c	eb5310fc-1426-4b59-b41b-47302c259a6a	g.chr9:139402727G>C	ENST00000277541.6	-	20	3357	c.3282C>G	c.(3280-3282)tgC>tgG	p.C1094W		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1094	EGF-like 28.				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		TGGGCACGTCGCAGTAAAGGC	0.662			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			4	142					0	0	1	0	0	C	139402727	G	C	139402727	3	2	320	1	0	0	0	0	1	0	0	0	10594	1079	38	5	4445	5	NOTCH1	9	139402727	Missense_Mutation	SNP	G	TCGA-HT-A616-01A-11D-A29Q-08		139402727	1810704	13	30378											
CCAR1	55749	broad.mit.edu	37	10	70513778	70513779	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HT-A616-01A-11D-A29Q-08	TCGA-HT-A616-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e41fcb0-82bf-4e09-99ba-ff6f56d6f18c	eb5310fc-1426-4b59-b41b-47302c259a6a	g.chr10:70513778_70513779insA	ENST00000265872.6	+	11	1407_1408	c.1288_1289insA	c.(1288-1290)gaafs	p.E430fs	CCAR1_ENST00000543719.1_Frame_Shift_Ins_p.E415fs|CCAR1_ENST00000535016.1_Frame_Shift_Ins_p.E415fs	NM_001282959.1|NM_001282960.1|NM_018237.2	NP_001269888.1|NP_001269889.1|NP_060707.2	Q8IX12	CCAR1_HUMAN	cell division cycle and apoptosis regulator 1	430					apoptosis|cell cycle|nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm|perinuclear region of cytoplasm	calcium ion binding|nucleic acid binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(7)|skin(3)	56						AGAGTCCTTAGAAAAAAATATG	0.381													32	68	---	---	---	---						A	70513779	-	A	70513778	7	5	320	1	0	1	1	0	0	0	0	0	2748	943	33	0	1326	0	CCAR1	10	70513778	Frame_Shift_Ins	INS	-	TCGA-HT-A616-01A-11D-A29Q-08		70513778	65020969	14	30379											
TMX2	51075	broad.mit.edu	37	11	57480129	57480129	+	Silent	SNP	G	G	A			TCGA-HT-A616-01A-11D-A29Q-08	TCGA-HT-A616-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e41fcb0-82bf-4e09-99ba-ff6f56d6f18c	eb5310fc-1426-4b59-b41b-47302c259a6a	g.chr11:57480129G>A	ENST00000278422.4	+	1	51	c.39G>A	c.(37-39)tcG>tcA	p.S13S	TMX2-CTNND1_ENST00000528395.1_Silent_p.S13S|TMX2_ENST00000378312.4_Silent_p.S13S	NM_015959.3	NP_057043.1	Q9Y320	TMX2_HUMAN	thioredoxin-related transmembrane protein 2	13					cell redox homeostasis	integral to membrane				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(2)	12						TCGTGTATTCGGTGCCGCGAC	0.627													7	38					0	0	1	0	0	A	57480129	G	A	57480129	2	1	320	1	0	0	0	0	0	0	0	1	16327	1103	39	1		1	TMX2	11	57480129	Silent	SNP	G	TCGA-HT-A616-01A-11D-A29Q-08		57480129	77526387	15	30380											
OR5A1	219982	broad.mit.edu	37	11	59211152	59211152	+	Missense_Mutation	SNP	T	T	A			TCGA-HT-A616-01A-11D-A29Q-08	TCGA-HT-A616-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e41fcb0-82bf-4e09-99ba-ff6f56d6f18c	eb5310fc-1426-4b59-b41b-47302c259a6a	g.chr11:59211152T>A	ENST00000302030.2	+	1	536	c.511T>A	c.(511-513)Ttt>Att	p.F171I		NM_001004728.1	NP_001004728.1	Q8NGJ0	OR5A1_HUMAN	olfactory receptor, family 5, subfamily A, member 1	171					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	28						TAGGCTTCACTTTTGCGGACC	0.532													8	374					0	0	1	0	0	A	59211152	T	A	59211152	3	1	320	1	0	0	0	0	1	0	0	0	11186	1609	56	5	513	5	OR5A1	11	59211152	Missense_Mutation	SNP	T	TCGA-HT-A616-01A-11D-A29Q-08	1731023	59211152	75795364	16	30381											
AVPR1A	552	broad.mit.edu	37	12	63543861	63543861	+	Silent	SNP	C	C	T			TCGA-HT-A616-01A-11D-A29Q-08	TCGA-HT-A616-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e41fcb0-82bf-4e09-99ba-ff6f56d6f18c	eb5310fc-1426-4b59-b41b-47302c259a6a	g.chr12:63543861C>T	ENST00000299178.2	-	1	861	c.756G>A	c.(754-756)gcG>gcA	p.A252A		NM_000706.4	NP_000697.1	P37288	V1AR_HUMAN	arginine vasopressin receptor 1A	252					activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|generation of precursor metabolites and energy	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|prostate(2)|skin(1)	26			BRCA - Breast invasive adenocarcinoma(9;0.193)	GBM - Glioblastoma multiforme(28;0.0569)	Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Vasopressin(DB00067)	TCTGGCGCGACGCCGTCTTCC	0.622													7	190					0	0	1	0	0	T	63543861	C	T	63543861	2	4	320	1	0	0	0	0	0	0	0	1	1229	523	19	1		1	AVPR1A	12	63543861	Silent	SNP	C	TCGA-HT-A616-01A-11D-A29Q-08		63543861	70308034	17	30382											
ATG2B	55102	broad.mit.edu	37	14	96777876	96777877	+	Splice_Site	DEL	CA	CA	-			TCGA-HT-A616-01A-11D-A29Q-08	TCGA-HT-A616-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e41fcb0-82bf-4e09-99ba-ff6f56d6f18c	eb5310fc-1426-4b59-b41b-47302c259a6a	g.chr14:96777876_96777877delCA	ENST00000359933.4	-	27	4884		c.e27+1			NM_018036.5	NP_060506	Q96BY7	ATG2B_HUMAN	autophagy related 2B											breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		TTTAATAACTCACTTGCTCTCC	0.277													14	26	---	---	---	---						-	96777877	CA	-	96777876	8	5	320	1	0	1	0	1	0	0	1	0	1093	841	29	0		0	ATG2B	14	96777876	Splice_Site	DEL	CA	TCGA-HT-A616-01A-11D-A29Q-08		96777876	10571664	18	30383											
THBS1	7057	broad.mit.edu	37	15	39884880	39884880	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HT-A616-01A-11D-A29Q-08	TCGA-HT-A616-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e41fcb0-82bf-4e09-99ba-ff6f56d6f18c	eb5310fc-1426-4b59-b41b-47302c259a6a	g.chr15:39884880C>T	ENST00000260356.5	+	17	2809	c.2644C>T	c.(2644-2646)Cag>Tag	p.Q882*		NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN	thrombospondin 1	882					activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	Becaplermin(DB00102)	CAATGCCAACCAGGCTGACCA	0.502													18	36					0	0	1	0	0	T	39884880	C	T	39884880	4	4	320	1	0	0	0	0	0	1	0	0	15913	595	21	2	2706	2	THBS1	15	39884880	Nonsense_Mutation	SNP	C	TCGA-HT-A616-01A-11D-A29Q-08		39884880	62646512	19	30384											
SPINT1	6692	broad.mit.edu	37	15	41146276	41146276	+	Missense_Mutation	SNP	G	G	A	rs138167951		TCGA-HT-A616-01A-11D-A29Q-08	TCGA-HT-A616-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e41fcb0-82bf-4e09-99ba-ff6f56d6f18c	eb5310fc-1426-4b59-b41b-47302c259a6a	g.chr15:41146276G>A	ENST00000344051.4	+	6	1214	c.980G>A	c.(979-981)cGc>cAc	p.R327H	SPINT1_ENST00000431806.1_Missense_Mutation_p.R311H|SPINT1_ENST00000562057.1_Missense_Mutation_p.R311H			O43278	SPIT1_HUMAN	serine peptidase inhibitor, Kunitz type 1	327						extracellular region|membrane fraction	protein binding|serine-type endopeptidase inhibitor activity			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	16		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;2.91e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166)		ATGGAAAGGCGCCATCCAGGT	0.592													48	114					0	0	1	0	0	A	41146276	G	A	41146276	3	1	320	1	0	0	0	0	1	0	0	0	15124	1087	38	1	998	1	SPINT1	15	41146276	Missense_Mutation	SNP	G	TCGA-HT-A616-01A-11D-A29Q-08	1261396	41146276	61385116	20	30385											
VPS13C	54832	broad.mit.edu	37	15	62300864	62300864	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-A616-01A-11D-A29Q-08	TCGA-HT-A616-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e41fcb0-82bf-4e09-99ba-ff6f56d6f18c	eb5310fc-1426-4b59-b41b-47302c259a6a	g.chr15:62300864C>G	ENST00000261517.5	-	14	1181	c.1108G>C	c.(1108-1110)Ggt>Cgt	p.G370R	VPS13C_ENST00000249837.3_Missense_Mutation_p.G327R|VPS13C_ENST00000395896.4_Missense_Mutation_p.G370R|VPS13C_ENST00000395898.3_Missense_Mutation_p.G327R	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13 homolog C (S. cerevisiae)	370					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						CATCGTCGACCATTGGTATGA	0.338													5	8					0	0	1	0	0	G	62300864	C	G	62300864	3	3	320	1	0	0	0	0	1	0	0	0	17251	594	21	5	10469	5	VPS13C	15	62300864	Missense_Mutation	SNP	C	TCGA-HT-A616-01A-11D-A29Q-08	21154588	62300864	40230528	21	30386											
CNOT1	23019	broad.mit.edu	37	16	58581553	58581553	+	Missense_Mutation	SNP	A	A	C			TCGA-HT-A616-01A-11D-A29Q-08	TCGA-HT-A616-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e41fcb0-82bf-4e09-99ba-ff6f56d6f18c	eb5310fc-1426-4b59-b41b-47302c259a6a	g.chr16:58581553A>C	ENST00000317147.5	-	26	3888	c.3556T>G	c.(3556-3558)Ttc>Gtc	p.F1186V	CNOT1_ENST00000245138.4_Intron|CNOT1_ENST00000569240.1_Missense_Mutation_p.F1181V|CNOT1_ENST00000441024.2_Missense_Mutation_p.F1186V	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	1186					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		CGATCTGAGAAATTGGCTGCA	0.358													11	28					0	0	1	0	0	C	58581553	A	C	58581553	3	2	320	1	0	0	0	0	1	0	0	0	3640	14	1	5	3892	5	CNOT1	16	58581553	Missense_Mutation	SNP	A	TCGA-HT-A616-01A-11D-A29Q-08		58581553	31773200	22	30387											
C16orf70	80262	broad.mit.edu	37	16	67168278	67168278	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A616-01A-11D-A29Q-08	TCGA-HT-A616-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e41fcb0-82bf-4e09-99ba-ff6f56d6f18c	eb5310fc-1426-4b59-b41b-47302c259a6a	g.chr16:67168278G>A	ENST00000219139.3	+	8	757	c.569G>A	c.(568-570)aGc>aAc	p.S190N	C16orf70_ENST00000569683.1_3'UTR|C16orf70_ENST00000569600.1_Missense_Mutation_p.S190N	NM_025187.3	NP_079463.2	Q9BSU1	CP070_HUMAN	chromosome 16 open reading frame 70	190										cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|skin(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0017)|Epithelial(162;0.00655)|all cancers(182;0.0579)		ATGCCTCTGAGCTGTTTCCTG	0.532													9	470					0	0	1	0	0	A	67168278	G	A	67168278	3	1	320	1	0	0	0	0	1	0	0	0	1836	971	34	2	599	2	C16orf70	16	67168278	Missense_Mutation	SNP	G	TCGA-HT-A616-01A-11D-A29Q-08	8586725	67168278	23186475	23	30388											
PRDM7	11105	broad.mit.edu	37	16	90124772	90124772	+	Missense_Mutation	SNP	G	G	A	rs144617453	byFrequency	TCGA-HT-A616-01A-11D-A29Q-08	TCGA-HT-A616-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e41fcb0-82bf-4e09-99ba-ff6f56d6f18c	eb5310fc-1426-4b59-b41b-47302c259a6a	g.chr16:90124772G>A	ENST00000407825.1	-	9	1140	c.503C>T	c.(502-504)gCg>gTg	p.A168V	PRDM7_ENST00000325921.6_Missense_Mutation_p.A168V|PRDM7_ENST00000449207.2_Silent_p.S468S			Q9NQW5	PRDM7_HUMAN	PR domain containing 7	0						chromosome|nucleus	nucleic acid binding			lung(2)|ovary(2)|stomach(1)	5		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		GAATATTGCCGCTCCTGATTC	0.468													4	115					0	0	1	0	0	A	90124772	G	A	90124772	3	1	320	1	0	0	0	0	1	0	0	0	12513	1087	38	1	78	1	PRDM7	16	90124772	Missense_Mutation	SNP	G	TCGA-HT-A616-01A-11D-A29Q-08	22956494	90124772	229981	24	30389											
ANKRD13B	124930	broad.mit.edu	37	17	27939276	27939276	+	Missense_Mutation	SNP	T	T	G			TCGA-HT-A616-01A-11D-A29Q-08	TCGA-HT-A616-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e41fcb0-82bf-4e09-99ba-ff6f56d6f18c	eb5310fc-1426-4b59-b41b-47302c259a6a	g.chr17:27939276T>G	ENST00000394859.3	+	11	1397	c.1243T>G	c.(1243-1245)Ttc>Gtc	p.F415V	RP11-68I3.2_ENST00000581474.1_RNA	NM_152345.4	NP_689558.4	Q86YJ7	AN13B_HUMAN	ankyrin repeat domain 13B	415										cervix(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2)	16						GCCTCCTGGCTTCCCAGTTAA	0.622													32	74					0	0	1	0	0	G	27939276	T	G	27939276	3	3	320	1	0	0	0	0	1	0	0	0	638	1609	56	5	1285	5	ANKRD13B	17	27939276	Missense_Mutation	SNP	T	TCGA-HT-A616-01A-11D-A29Q-08		27939276	53255934	25	30390											
ABCA9	10350	broad.mit.edu	37	17	66982397	66982397	+	Silent	SNP	C	C	T			TCGA-HT-A616-01A-11D-A29Q-08	TCGA-HT-A616-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e41fcb0-82bf-4e09-99ba-ff6f56d6f18c	eb5310fc-1426-4b59-b41b-47302c259a6a	g.chr17:66982397C>T	ENST00000340001.4	-	32	4327	c.4116G>A	c.(4114-4116)gcG>gcA	p.A1372A	ABCA9_ENST00000370732.2_Silent_p.A1372A|ABCA9_ENST00000453985.2_Silent_p.A1334A	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	1372	ABC transporter 2.				transport	integral to membrane	ATP binding|ATPase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					TGGGCCACAGCGCATTCTCCT	0.547													8	116					0	0	1	0	0	T	66982397	C	T	66982397	2	4	320	1	0	0	0	0	0	0	0	1	39	755	27	1		1	ABCA9	17	66982397	Silent	SNP	C	TCGA-HT-A616-01A-11D-A29Q-08	39043121	66982397	14212813	26	30391											
DSG2	1829	broad.mit.edu	37	18	29126141	29126141	+	Missense_Mutation	SNP	G	G	C			TCGA-HT-A616-01A-11D-A29Q-08	TCGA-HT-A616-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e41fcb0-82bf-4e09-99ba-ff6f56d6f18c	eb5310fc-1426-4b59-b41b-47302c259a6a	g.chr18:29126141G>C	ENST00000261590.8	+	15	3001	c.2792G>C	c.(2791-2793)aGa>aCa	p.R931T	RP11-75N4.2_ENST00000583706.1_RNA	NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	desmoglein 2	931					cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			ATGGCTTCTAGAAATGTGATA	0.473													65	76					0	0	1	0	0	C	29126141	G	C	29126141	3	2	320	1	0	0	0	0	1	0	0	0	4803	942	33	4	2850	4	DSG2	18	29126141	Missense_Mutation	SNP	G	TCGA-HT-A616-01A-11D-A29Q-08		29126141	48951107	27	30392											
RTTN	25914	broad.mit.edu	37	18	67695981	67695981	+	Silent	SNP	A	A	C			TCGA-HT-A616-01A-11D-A29Q-08	TCGA-HT-A616-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e41fcb0-82bf-4e09-99ba-ff6f56d6f18c	eb5310fc-1426-4b59-b41b-47302c259a6a	g.chr18:67695981A>C	ENST00000255674.6	-	43	6088	c.5802T>G	c.(5800-5802)ctT>ctG	p.L1934L	RTTN_ENST00000579986.1_5'UTR|RTTN_ENST00000454359.1_3'UTR	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	1934				L -> P (in Ref. 4; AAH46222).			binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				CATTTTGATAAAGACAGTTTC	0.308													5	16					0	0	1	0	0	C	67695981	A	C	67695981	2	2	320	1	0	0	0	0	0	0	0	1	13789	1	1	5		5	RTTN	18	67695981	Silent	SNP	A	TCGA-HT-A616-01A-11D-A29Q-08	38569840	67695981	10381267	28	30393											
PRODH2	58510	broad.mit.edu	37	19	36293163	36293163	+	Silent	SNP	G	G	T			TCGA-HT-A616-01A-11D-A29Q-08	TCGA-HT-A616-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e41fcb0-82bf-4e09-99ba-ff6f56d6f18c	eb5310fc-1426-4b59-b41b-47302c259a6a	g.chr19:36293163G>T	ENST00000301175.3	-	10	1373	c.1356C>A	c.(1354-1356)ggC>ggA	p.G452G		NM_021232.1	NP_067055.1	Q9UF12	PROD2_HUMAN	proline dehydrogenase (oxidase) 2	452					glutamate biosynthetic process|proline catabolic process		proline dehydrogenase activity			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CCAGAGGAATGCCCAGCTCCC	0.542													10	136					1.5842e-08	1.61467e-08	1	1	0	T	36293163	G	T	36293163	2	4	320	1	0	0	0	0	0	0	0	1	12601	1306	46	5		5	PRODH2	19	36293163	Silent	SNP	G	TCGA-HT-A616-01A-11D-A29Q-08		36293163	22835820	29	30394											
KCNA7	3743	broad.mit.edu	37	19	49573516	49573516	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-A616-01A-11D-A29Q-08	TCGA-HT-A616-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e41fcb0-82bf-4e09-99ba-ff6f56d6f18c	eb5310fc-1426-4b59-b41b-47302c259a6a	g.chr19:49573516A>G	ENST00000221444.1	-	2	1530	c.1175T>C	c.(1174-1176)gTc>gCc	p.V392A		NM_031886.2	NP_114092.2	Q96RP8	KCNA7_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 7	392						voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|skin(2)	11		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_epithelial(76;3.83e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000397)|OV - Ovarian serous cystadenocarcinoma(262;0.000519)|GBM - Glioblastoma multiforme(486;0.00541)|Epithelial(262;0.0441)		GGAGACAATGACGGGCACTGG	0.567													26	43					0	0	1	0	0	G	49573516	A	G	49573516	3	3	320	1	0	0	0	0	1	0	0	0	8052	275	10	3	199	3	KCNA7	19	49573516	Missense_Mutation	SNP	A	TCGA-HT-A616-01A-11D-A29Q-08	13280353	49573516	9555467	30	30395											
PRR12	57479	broad.mit.edu	37	19	50123629	50123629	+	Silent	SNP	C	C	T			TCGA-HT-A616-01A-11D-A29Q-08	TCGA-HT-A616-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e41fcb0-82bf-4e09-99ba-ff6f56d6f18c	eb5310fc-1426-4b59-b41b-47302c259a6a	g.chr19:50123629C>T	ENST00000418929.2	+	10	5530	c.5518C>T	c.(5518-5520)Ctg>Ttg	p.L1840L		NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN	proline rich 12	1019							DNA binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		ACCTGGGCGTCTGCTCAAAAC	0.567													6	15					0	0	1	0	0	T	50123629	C	T	50123629	2	4	320	1	0	0	0	0	0	0	0	1	12636	912	32	2		2	PRR12	19	50123629	Silent	SNP	C	TCGA-HT-A616-01A-11D-A29Q-08	550113	50123629	9005354	31	30396											
TXN2	25828	broad.mit.edu	37	22	36872905	36872905	+	Splice_Site	SNP	T	T	A			TCGA-HT-A616-01A-11D-A29Q-08	TCGA-HT-A616-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e41fcb0-82bf-4e09-99ba-ff6f56d6f18c	eb5310fc-1426-4b59-b41b-47302c259a6a	g.chr22:36872905T>A	ENST00000216185.2	-	3	730		c.e3-2		TXN2_ENST00000403313.1_Splice_Site|TXN2_ENST00000487725.1_Splice_Site|TXN2_ENST00000416967.1_Splice_Site			Q99757	THIOM_HUMAN	thioredoxin 2						cell redox homeostasis|electron transport chain|glycerol ether metabolic process|transport	mitochondrion|nucleolus	electron carrier activity			breast(1)|lung(1)|prostate(1)	3						CCACACCACCTCAAAAGGCGA	0.537													5	146					0	0	1	0	0	A	36872905	T	A	36872905	5	1	320	1	0	0	0	0	0	0	1	0	16853	1565	54	5	246	5	TXN2	22	36872905	Splice_Site	SNP	T	TCGA-HT-A616-01A-11D-A29Q-08		36872905	14431661	32	30397											
MAGEB4	4115	broad.mit.edu	37	X	30260295	30260295	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A616-01A-11D-A29Q-08	TCGA-HT-A616-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e41fcb0-82bf-4e09-99ba-ff6f56d6f18c	eb5310fc-1426-4b59-b41b-47302c259a6a	g.chrX:30260295C>T	ENST00000378982.2	+	1	239	c.43C>T	c.(43-45)Cgc>Tgc	p.R15C		NM_002367.3	NP_002358.1	O15481	MAGB4_HUMAN	melanoma antigen family B, 4	15										breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27						CCGTGAGAAACGCCAGCGGAC	0.567													13	46					0	0	1	0	0	T	30260295	C	T	30260295	3	4	320	1	0	0	0	0	1	0	0	0	9228	536	19	1	45	1	MAGEB4	23	30260295	Missense_Mutation	SNP	C	TCGA-HT-A616-01A-11D-A29Q-08		30260295	125010265	33	30398											
GAGE2A	729447	broad.mit.edu	37	X	49355893	49355893	+	Missense_Mutation	SNP	C	C	G	rs147803166	by1000genomes	TCGA-HT-A616-01A-11D-A29Q-08	TCGA-HT-A616-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e41fcb0-82bf-4e09-99ba-ff6f56d6f18c	eb5310fc-1426-4b59-b41b-47302c259a6a	g.chrX:49355893C>G	ENST00000362097.1	+	3	258	c.175C>G	c.(175-177)Cag>Gag	p.Q59E		NM_001127212.1	NP_001120684.1			G antigen 2A									p.Q59E(8)		endometrium(4)	4	Ovarian(276;0.236)					TCAGGAGGGACAGGATGAGGG	0.562													5	479					0	0	1	0	0	G	49355893	C	G	49355893	3	3	320	1	0	0	0	0	1	0	0	0	6226	479	17	5	1282	5	GAGE2A	23	49355893	Missense_Mutation	SNP	C	TCGA-HT-A616-01A-11D-A29Q-08	19095598	49355893	105914667	34	30399											
NUDT10	170685	broad.mit.edu	37	X	51076024	51076024	+	Silent	SNP	G	G	A	rs143435240	byFrequency	TCGA-HT-A616-01A-11D-A29Q-08	TCGA-HT-A616-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e41fcb0-82bf-4e09-99ba-ff6f56d6f18c	eb5310fc-1426-4b59-b41b-47302c259a6a	g.chrX:51076024G>A	ENST00000376006.3	+	2	427	c.207G>A	c.(205-207)gaG>gaA	p.E69E	NUDT10_ENST00000356450.2_Silent_p.E69E	NM_153183.2	NP_694853.1	Q8NFP7	NUD10_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 10	69	Nudix hydrolase.					cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding	p.E69E(8)		cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(1)|prostate(3)|upper_aerodigestive_tract(1)	16	Ovarian(276;0.236)					TGTACGAAGAGGCGGGAGTCA	0.657													3	49					0	0	1	0	0	A	51076024	G	A	51076024	2	1	320	1	0	0	0	0	0	0	0	1	10774	991	35	2		2	NUDT10	23	51076024	Silent	SNP	G	TCGA-HT-A616-01A-11D-A29Q-08	1720131	51076024	104194536	35	30400											
ATRX	546	broad.mit.edu	37	X	76939697	76939697	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HT-A616-01A-11D-A29Q-08	TCGA-HT-A616-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e41fcb0-82bf-4e09-99ba-ff6f56d6f18c	eb5310fc-1426-4b59-b41b-47302c259a6a	g.chrX:76939697C>A	ENST00000373344.5	-	9	1265	c.1051G>T	c.(1051-1053)Gag>Tag	p.E351*	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Nonsense_Mutation_p.E313*	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	351					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)	TTAATCATCTCTTTGGGCACA	0.353			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						39	69					2.75727e-19	2.8654e-19	1	1	0	A	76939697	C	A	76939697	4	1	320	1	0	0	0	0	0	1	0	0	1206	922	32	4	6535	4	ATRX	23	76939697	Nonsense_Mutation	SNP	C	TCGA-HT-A616-01A-11D-A29Q-08	25863673	76939697	78330863	36	30401											
RGAG1	57529	broad.mit.edu	37	X	109694050	109694050	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-A616-01A-11D-A29Q-08	TCGA-HT-A616-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e41fcb0-82bf-4e09-99ba-ff6f56d6f18c	eb5310fc-1426-4b59-b41b-47302c259a6a	g.chrX:109694050C>G	ENST00000465301.2	+	3	451	c.205C>G	c.(205-207)Cca>Gca	p.P69A	RGAG1_ENST00000540313.1_Missense_Mutation_p.P69A	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	69										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						GATGACATCTCCAGTCTTTGA	0.517											OREG0019909	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	25	303					0	0	1	0	0	G	109694050	C	G	109694050	3	3	320	1	0	0	0	0	1	0	0	0	13326	855	30	5	207	5	RGAG1	23	109694050	Missense_Mutation	SNP	C	TCGA-HT-A616-01A-11D-A29Q-08	32754353	109694050	45576510	37	30402											
GPR112	139378	broad.mit.edu	37	X	135429890	135429890	+	Missense_Mutation	SNP	C	C	A			TCGA-HT-A616-01A-11D-A29Q-08	TCGA-HT-A616-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e41fcb0-82bf-4e09-99ba-ff6f56d6f18c	eb5310fc-1426-4b59-b41b-47302c259a6a	g.chrX:135429890C>A	ENST00000394143.1	+	6	4316	c.4025C>A	c.(4024-4026)aCc>aAc	p.T1342N	GPR112_ENST00000412101.1_Missense_Mutation_p.T1137N|GPR112_ENST00000370652.1_Missense_Mutation_p.T1342N|GPR112_ENST00000287534.4_Missense_Mutation_p.T1279N|GPR112_ENST00000394141.1_Missense_Mutation_p.T1137N	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1342					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					ATTACACCAACCTTGACCTCA	0.463													6	131					0.217242	0.217242	1	1	0	A	135429890	C	A	135429890	3	1	320	1	0	0	0	0	1	0	0	0	6669	507	18	5	4035	5	GPR112	23	135429890	Missense_Mutation	SNP	C	TCGA-HT-A616-01A-11D-A29Q-08	25735840	135429890	19840670	38	30403											
MCF2	4168	broad.mit.edu	37	X	138711938	138711938	+	Missense_Mutation	SNP	T	T	A			TCGA-HT-A616-01A-11D-A29Q-08	TCGA-HT-A616-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e41fcb0-82bf-4e09-99ba-ff6f56d6f18c	eb5310fc-1426-4b59-b41b-47302c259a6a	g.chrX:138711938T>A	ENST00000520602.1	-	7	819	c.534A>T	c.(532-534)gaA>gaT	p.E178D	MCF2_ENST00000370573.4_Missense_Mutation_p.E118D|MCF2_ENST00000536274.1_Missense_Mutation_p.E79D|MCF2_ENST00000370578.4_Missense_Mutation_p.E263D|MCF2_ENST00000370576.4_Missense_Mutation_p.E118D|MCF2_ENST00000338585.6_Missense_Mutation_p.E118D|MCF2_ENST00000414978.1_Missense_Mutation_p.E178D|MCF2_ENST00000519895.1_Missense_Mutation_p.E178D			P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence	118					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|membrane|membrane fraction	protein binding|Rho guanyl-nucleotide exchange factor activity			NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62	Acute lymphoblastic leukemia(192;0.000127)					TCTCAGCCAGTTCAGTTCCAA	0.398													76	134					0	0	1	0	0	A	138711938	T	A	138711938	3	1	320	1	0	0	0	0	1	0	0	0	9428	1722	60	5	2591	5	MCF2	23	138711938	Missense_Mutation	SNP	T	TCGA-HT-A616-01A-11D-A29Q-08	3282048	138711938	16558622	39	30404											
CD99L2	83692	broad.mit.edu	37	X	149938823	149938823	+	Silent	SNP	G	G	A	rs147156476	byFrequency	TCGA-HT-A616-01A-11D-A29Q-08	TCGA-HT-A616-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e41fcb0-82bf-4e09-99ba-ff6f56d6f18c	eb5310fc-1426-4b59-b41b-47302c259a6a	g.chrX:149938823G>A	ENST00000370377.3	-	10	792	c.675C>T	c.(673-675)taC>taT	p.Y225Y	CD99L2_ENST00000355149.3_Silent_p.Y153Y|CD99L2_ENST00000346693.4_5'UTR|CD99L2_ENST00000466436.1_Silent_p.Y176Y|CD99L2_ENST00000437787.2_Silent_p.Y152Y	NM_001242614.1|NM_031462.3	NP_001229543.1|NP_113650.2	Q8TCZ2	C99L2_HUMAN	CD99 molecule-like 2	225					cell adhesion	cell junction|integral to membrane				endometrium(4)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					CTCCCTTCACGTAGTCTGCGT	0.537													19	35					0	0	1	0	0	A	149938823	G	A	149938823	2	1	320	1	0	0	0	0	0	0	0	1	3073	1140	40	1		1	CD99L2	23	149938823	Silent	SNP	G	TCGA-HT-A616-01A-11D-A29Q-08	11226885	149938823	5331737	40	30405											
HMGB3	3149	broad.mit.edu	37	X	150156360	150156360	+	Silent	SNP	G	G	A			TCGA-HT-A616-01A-11D-A29Q-08	TCGA-HT-A616-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e41fcb0-82bf-4e09-99ba-ff6f56d6f18c	eb5310fc-1426-4b59-b41b-47302c259a6a	g.chrX:150156360G>A	ENST00000325307.7	+	5	672	c.576G>A	c.(574-576)gaG>gaA	p.E192E	HMGB3_ENST00000448905.2_Silent_p.E192E	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN	high mobility group box 3	192	Asp/Glu-rich (acidic).				DNA recombination|multicellular organismal development	chromosome|nucleus	DNA bending activity|double-stranded DNA binding	p.E192E(1)		endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8	Acute lymphoblastic leukemia(192;6.56e-05)					aggaagaagaggaggaggagg	0.443													5	62					0	0	1	0	0	A	150156360	G	A	150156360	2	1	320	1	0	0	0	0	0	0	0	1	7268	991	35	2		2	HMGB3	23	150156360	Silent	SNP	G	TCGA-HT-A616-01A-11D-A29Q-08	217537	150156360	5114200	41	30406											
NAA10	8260	broad.mit.edu	37	X	153195525	153195525	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-A616-01A-11D-A29Q-08	TCGA-HT-A616-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e41fcb0-82bf-4e09-99ba-ff6f56d6f18c	eb5310fc-1426-4b59-b41b-47302c259a6a	g.chrX:153195525T>C	ENST00000464845.1	-	8	941	c.623A>G	c.(622-624)gAc>gGc	p.D208G	NAA10_ENST00000370009.1_Missense_Mutation_p.D193G|NAA10_ENST00000393712.3_3'UTR|NAA10_ENST00000370015.4_3'UTR	NM_001256120.1|NM_003491.3	NP_001243049.1|NP_003482.1	P41227	NAA10_HUMAN	N(alpha)-acetyltransferase 10, NatA catalytic subunit	208					DNA packaging|internal protein amino acid acetylation|N-terminal protein amino acid acetylation	cytoplasm|nucleus	peptide alpha-N-acetyltransferase activity|protein binding			breast(1)|endometrium(3)|kidney(1)|lung(3)|ovary(1)|prostate(1)	10						GTCCTTGCTGTCCCCACCACT	0.617													4	95					0	0	1	0	0	C	153195525	T	C	153195525	3	2	320	1	0	0	0	0	1	0	0	0	10164	1667	58	3	88	3	NAA10	23	153195525	Missense_Mutation	SNP	T	TCGA-HT-A616-01A-11D-A29Q-08	3039165	153195525	2075035	42	30407											
KIAA1324	57535	broad.mit.edu	37	1	109716150	109716150	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A617-01A-11D-A29Q-08	TCGA-HT-A617-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98008bb2-3c35-4a4f-b0a0-b80858eb1e21	9197147d-0b09-40ac-b6f3-ecaeb806034c	g.chr1:109716150G>A	ENST00000369939.3	+	6	934	c.751G>A	c.(751-753)Gta>Ata	p.V251I	KIAA1324_ENST00000529753.1_Missense_Mutation_p.V251I	NM_020775.4	NP_065826	Q6UXG2	K1324_HUMAN	KIAA1324	251					macroautophagy|positive regulation of vacuole organization|regulation of apoptosis	integral to plasma membrane				NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063)		Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249)		AGCCTTCTCAGTATGGACCAA	0.453													13	72					0	0	1	0	0	A	109716150	G	A	109716150	3	1	321	1	0	0	0	0	1	0	0	0	8265	1029	36	2	773	2	KIAA1324	1	109716150	Missense_Mutation	SNP	G	TCGA-HT-A617-01A-11D-A29Q-08		109716150	139534471	1	30408											
SEC22B	9554	broad.mit.edu	37	1	145109975	145109976	+	RNA	INS	-	-	C	rs67257307		TCGA-HT-A617-01A-11D-A29Q-08	TCGA-HT-A617-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98008bb2-3c35-4a4f-b0a0-b80858eb1e21	9197147d-0b09-40ac-b6f3-ecaeb806034c	g.chr1:145109975_145109976insC	ENST00000453618.1	+	0	673							O75396	SC22B_HUMAN	SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)						ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome	protein binding										CAGGAACTTTGCTAAAGATCTA	0.386													2	4	---	---	---	---						C	145109976	-	C	145109975	6	5	321	0	1	1	1	0	0	0	0	0	14043	1334	46	0		0	SEC22B	1	145109975	RNA	INS	-	TCGA-HT-A617-01A-11D-A29Q-08	35393825	145109975	104140646	2	30409											
FCRL5	83416	broad.mit.edu	37	1	157490931	157490931	+	Silent	SNP	C	C	T			TCGA-HT-A617-01A-11D-A29Q-08	TCGA-HT-A617-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98008bb2-3c35-4a4f-b0a0-b80858eb1e21	9197147d-0b09-40ac-b6f3-ecaeb806034c	g.chr1:157490931C>T	ENST00000361835.3	-	11	2548	c.2391G>A	c.(2389-2391)tcG>tcA	p.S797S	FCRL5_ENST00000461387.1_5'UTR|FCRL5_ENST00000356953.4_Silent_p.S797S	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	797	Ig-like C2-type 8.					integral to membrane|plasma membrane	receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				CAGAGGGGGACGACCTATTTC	0.592													28	107					0	0	1	0	0	T	157490931	C	T	157490931	2	4	321	1	0	0	0	0	0	0	0	1	5831	523	19	1		1	FCRL5	1	157490931	Silent	SNP	C	TCGA-HT-A617-01A-11D-A29Q-08	12380956	157490931	91759690	3	30410											
PEA15	8682	broad.mit.edu	37	1	160181386	160181386	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HT-A617-01A-11D-A29Q-08	TCGA-HT-A617-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98008bb2-3c35-4a4f-b0a0-b80858eb1e21	9197147d-0b09-40ac-b6f3-ecaeb806034c	g.chr1:160181386G>T	ENST00000368076.1	+	4	463	c.115G>T	c.(115-117)Gaa>Taa	p.E39*	PEA15_ENST00000368077.1_Nonsense_Mutation_p.E18*|PEA15_ENST00000488858.1_3'UTR|PEA15_ENST00000360472.4_Nonsense_Mutation_p.E18*			Q15121	PEA15_HUMAN	phosphoprotein enriched in astrocytes 15	18	DED.				anti-apoptosis|apoptosis|carbohydrate transport|negative regulation of glucose import	cytoplasm|microtubule associated complex	protein binding			large_intestine(1)|lung(4)	5	all_cancers(52;3.11e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CATCACCCTTGAAGATCTAGA	0.532													14	112					8.60227e-14	9.60254e-14	1	1	0	T	160181386	G	T	160181386	4	4	321	1	0	0	0	0	0	1	0	0	11758	1291	45	5	54	5	PEA15	1	160181386	Nonsense_Mutation	SNP	G	TCGA-HT-A617-01A-11D-A29Q-08	2690455	160181386	89069235	4	30411											
DENND1B	163486	broad.mit.edu	37	1	197611924	197611924	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A617-01A-11D-A29Q-08	TCGA-HT-A617-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98008bb2-3c35-4a4f-b0a0-b80858eb1e21	9197147d-0b09-40ac-b6f3-ecaeb806034c	g.chr1:197611924C>T	ENST00000235453.4	-	10	776	c.499G>A	c.(499-501)Gtg>Atg	p.V167M	DENND1B_ENST00000367396.3_Missense_Mutation_p.V197M|DENND1B_ENST00000400967.2_Missense_Mutation_p.V167M			Q6P3S1	DEN1B_HUMAN	DENN/MADD domain containing 1B	197	DENN.					clathrin-coated vesicle|cytosol	guanyl-nucleotide exchange factor activity			NS(2)|breast(2)|kidney(2)|large_intestine(3)|lung(12)|upper_aerodigestive_tract(1)	22						TTCACATCCACGGCAACAAAA	0.373													4	20					0	0	1	0	0	T	197611924	C	T	197611924	3	4	321	1	0	0	0	0	1	0	0	0	4455	536	19	1	1835	1	DENND1B	1	197611924	Missense_Mutation	SNP	C	TCGA-HT-A617-01A-11D-A29Q-08	37430538	197611924	51638697	5	30412											
PCBP1	5093	broad.mit.edu	37	2	70315908	70315908	+	Missense_Mutation	SNP	G	G	C			TCGA-HT-A617-01A-11D-A29Q-08	TCGA-HT-A617-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98008bb2-3c35-4a4f-b0a0-b80858eb1e21	9197147d-0b09-40ac-b6f3-ecaeb806034c	g.chr2:70315908G>C	ENST00000303577.5	+	1	1324	c.1033G>C	c.(1033-1035)Gcc>Ccc	p.A345P	PCBP1-AS1_ENST00000596028.1_RNA	NM_006196.3	NP_006187.2	Q15365	PCBP1_HUMAN	poly(rC) binding protein 1	345					nuclear mRNA splicing, via spliceosome	cytoplasm|nucleoplasm|ribonucleoprotein complex	protein binding|RNA binding|single-stranded DNA binding			endometrium(2)|kidney(1)|large_intestine(6)|lung(2)|skin(1)	12						TCTAATCAATGCCAGGCTTTC	0.498													13	37					0	0	1	0	0	C	70315908	G	C	70315908	3	2	321	1	0	0	0	0	1	0	0	0	11547	1319	46	5	1035	5	PCBP1	2	70315908	Missense_Mutation	SNP	G	TCGA-HT-A617-01A-11D-A29Q-08		70315908	172883465	6	30413											
MYO7B	4648	broad.mit.edu	37	2	128389239	128389239	+	Missense_Mutation	SNP	C	C	A			TCGA-HT-A617-01A-11D-A29Q-08	TCGA-HT-A617-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98008bb2-3c35-4a4f-b0a0-b80858eb1e21	9197147d-0b09-40ac-b6f3-ecaeb806034c	g.chr2:128389239C>A	ENST00000389524.4	+	37	5138	c.5085C>A	c.(5083-5085)gaC>gaA	p.D1695E	MYO7B_ENST00000428314.1_Missense_Mutation_p.D1694E|MYO7B_ENST00000409816.2_Missense_Mutation_p.D1694E|MYO7B_ENST00000409090.1_Missense_Mutation_p.D547E			Q6PIF6	MYO7B_HUMAN	myosin VIIB	1694	MyTH4 2.					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		AGCTCACCGACCAGATCTTCA	0.647													4	56					0.014758	0.015072	1	1	0	A	128389239	C	A	128389239	3	1	321	1	0	0	0	0	1	0	0	0	10131	506	18	5	5224	5	MYO7B	2	128389239	Missense_Mutation	SNP	C	TCGA-HT-A617-01A-11D-A29Q-08	58073331	128389239	114810134	7	30414											
TTN	7273	broad.mit.edu	37	2	179500810	179500810	+	Missense_Mutation	SNP	C	C	T	rs149059189	by1000genomes	TCGA-HT-A617-01A-11D-A29Q-08	TCGA-HT-A617-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98008bb2-3c35-4a4f-b0a0-b80858eb1e21	9197147d-0b09-40ac-b6f3-ecaeb806034c	g.chr2:179500810C>T	ENST00000589042.1	-	226	41712	c.41488G>A	c.(41488-41490)Gtc>Atc	p.V13830I	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V11262I|TTN_ENST00000460472.2_Missense_Mutation_p.V4765I|TTN_ENST00000342175.6_Missense_Mutation_p.V4957I|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.V12189I|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V4890I	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	12189	Ig-like 94.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AAGCCAATGACGCCTGGCACA	0.512													17	75					0	0	1	0	0	T	179500810	C	T	179500810	3	4	321	1	0	0	0	0	1	0	0	0	16797	536	19	1	66753	1	TTN	2	179500810	Missense_Mutation	SNP	C	TCGA-HT-A617-01A-11D-A29Q-08	51111571	179500810	63698563	8	30415											
AOX1	316	broad.mit.edu	37	2	201478596	201478596	+	Silent	SNP	G	G	A			TCGA-HT-A617-01A-11D-A29Q-08	TCGA-HT-A617-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98008bb2-3c35-4a4f-b0a0-b80858eb1e21	9197147d-0b09-40ac-b6f3-ecaeb806034c	g.chr2:201478596G>A	ENST00000374700.2	+	15	1759	c.1518G>A	c.(1516-1518)tcG>tcA	p.S506S	AOX1_ENST00000485106.1_3'UTR	NM_001159.3	NP_001150.3	Q06278	ADO_HUMAN	aldehyde oxidase 1	506					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			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)	TTTTGGGCTCGGCGCCAGGTG	0.473													11	35					0	0	1	0	0	A	201478596	G	A	201478596	2	1	321	1	0	0	0	0	0	0	0	1	725	1103	39	1		1	AOX1	2	201478596	Silent	SNP	G	TCGA-HT-A617-01A-11D-A29Q-08	21977786	201478596	41720777	9	30416											
NRP2	8828	broad.mit.edu	37	2	206605324	206605324	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A617-01A-11D-A29Q-08	TCGA-HT-A617-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98008bb2-3c35-4a4f-b0a0-b80858eb1e21	9197147d-0b09-40ac-b6f3-ecaeb806034c	g.chr2:206605324C>T	ENST00000360409.3	+	8	2019	c.1228C>T	c.(1228-1230)Cgc>Tgc	p.R410C	NRP2_ENST00000272849.3_Missense_Mutation_p.R410C|NRP2_ENST00000355117.4_Missense_Mutation_p.R410C|NRP2_ENST00000417189.1_Missense_Mutation_p.R410C|NRP2_ENST00000357785.5_Missense_Mutation_p.R410C|NRP2_ENST00000357118.4_Missense_Mutation_p.R410C|NRP2_ENST00000540841.1_Missense_Mutation_p.R410C|NRP2_ENST00000412873.2_Missense_Mutation_p.R410C|NRP2_ENST00000540178.1_Missense_Mutation_p.R410C	NM_003872.2|NM_201266.1|NM_201279.1	NP_003863.2|NP_957718|NP_958436.1	O60462	NRP2_HUMAN	neuropilin 2	410	F5/8 type C 1.				angiogenesis|axon guidance|cell adhesion	integral to membrane|membrane fraction|plasma membrane	heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity	p.R410C(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						TGTTAGAATCCGCCCTCAGAC	0.557													20	69					0	0	1	0	0	T	206605324	C	T	206605324	3	4	321	1	0	0	0	0	1	0	0	0	10709	652	23	1	1258	1	NRP2	2	206605324	Missense_Mutation	SNP	C	TCGA-HT-A617-01A-11D-A29Q-08	5126728	206605324	36594049	10	30417											
ALPP	250	broad.mit.edu	37	2	233246473	233246475	+	In_Frame_Del	DEL	CTG	CTG	-	rs1048998		TCGA-HT-A617-01A-11D-A29Q-08	TCGA-HT-A617-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98008bb2-3c35-4a4f-b0a0-b80858eb1e21	9197147d-0b09-40ac-b6f3-ecaeb806034c	g.chr2:233246473_233246475delCTG	ENST00000392027.2	+	11	1845_1847	c.1576_1578delCTG	c.(1576-1578)ctgdel	p.L529del		NM_001632.3	NP_001623.3	P05187	PPB1_HUMAN	alkaline phosphatase, placental	529						anchored to membrane|cell surface|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)		GGCCGGGACCCTGCTGCTGCTGG	0.734													2	4	---	---	---	---						-	233246475	CTG	-	233246473	7	5	321	1	0	1	0	1	0	0	0	0	544	680	24	0	1618	0	ALPP	2	233246473	In_Frame_Del	DEL	CTG	TCGA-HT-A617-01A-11D-A29Q-08	26641149	233246473	9952900	11	30418											
CYP8B1	1582	broad.mit.edu	37	3	42916689	42916689	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A617-01A-11D-A29Q-08	TCGA-HT-A617-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98008bb2-3c35-4a4f-b0a0-b80858eb1e21	9197147d-0b09-40ac-b6f3-ecaeb806034c	g.chr3:42916689C>T	ENST00000316161.4	-	1	944	c.620G>A	c.(619-621)cGc>cAc	p.R207H	RP11-141M3.5_ENST00000471537.1_RNA|CYP8B1_ENST00000437102.1_Missense_Mutation_p.R207H|KRBOX1_ENST00000426937.1_Intron	NM_004391.2	NP_004382.2	Q9UNU6	CP8B1_HUMAN	cytochrome P450, family 8, subfamily B, polypeptide 1	207					bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	7alpha-hydroxycholest-4-en-3-one 12alpha-hydroxylase activity|electron carrier activity|heme binding|oxygen binding|sterol 12-alpha-hydroxylase activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|prostate(2)|skin(5)	23				KIRC - Kidney renal clear cell carcinoma(284;0.213)|Kidney(284;0.249)		GTCAAACTTGCGGAACTCCAT	0.527													5	98					0	0	1	0	0	T	42916689	C	T	42916689	3	4	321	1	0	0	0	0	1	0	0	0	4221	768	27	1	889	1	CYP8B1	3	42916689	Missense_Mutation	SNP	C	TCGA-HT-A617-01A-11D-A29Q-08		42916689	155105741	12	30419											
NISCH	11188	broad.mit.edu	37	3	52489675	52489675	+	Silent	SNP	C	C	T			TCGA-HT-A617-01A-11D-A29Q-08	TCGA-HT-A617-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98008bb2-3c35-4a4f-b0a0-b80858eb1e21	9197147d-0b09-40ac-b6f3-ecaeb806034c	g.chr3:52489675C>T	ENST00000345716.4	+	1	152	c.18C>T	c.(16-18)acC>acT	p.T6T	NISCH_ENST00000420808.2_Silent_p.T6T|NISCH_ENST00000488380.1_Silent_p.T6T|NISCH_ENST00000479054.1_Silent_p.T6T	NM_007184.3	NP_009115	Q9Y2I1	NISCH_HUMAN	nischarin	6	Necessary for binding to phosphoinositide-3-P; not sufficient for targeting to endosomes.				apoptosis|cell communication	cytosol|early endosome|plasma membrane|recycling endosome	phosphatidylinositol binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)		CCGCGCGCACCTTCGGGCCCG	0.746													4	10					0	0	1	0	0	T	52489675	C	T	52489675	2	4	321	1	0	0	0	0	0	0	0	1	10479	668	24	2		2	NISCH	3	52489675	Silent	SNP	C	TCGA-HT-A617-01A-11D-A29Q-08	9572986	52489675	145532755	13	30420											
GRAMD1C	54762	broad.mit.edu	37	3	113563352	113563352	+	Silent	SNP	G	G	T			TCGA-HT-A617-01A-11D-A29Q-08	TCGA-HT-A617-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98008bb2-3c35-4a4f-b0a0-b80858eb1e21	9197147d-0b09-40ac-b6f3-ecaeb806034c	g.chr3:113563352G>T	ENST00000358160.4	+	2	522	c.30G>T	c.(28-30)gtG>gtT	p.V10V	GRAMD1C_ENST00000479212.1_3'UTR|GRAMD1C_ENST00000452134.2_5'UTR	NM_017577.4	NP_060047.3	Q8IYS0	GRM1C_HUMAN	GRAM domain containing 1C	10						integral to membrane				NS(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	26						GTTTCCAGGTGATGAATGAAG	0.318													4	71					1	1	1	1	0	T	113563352	G	T	113563352	2	4	321	1	0	0	0	0	0	0	0	1	6790	1277	45	5		5	GRAMD1C	3	113563352	Silent	SNP	G	TCGA-HT-A617-01A-11D-A29Q-08	61073677	113563352	84459078	14	30421											
ADD1	118	broad.mit.edu	37	4	2877687	2877687	+	Silent	SNP	G	G	A	rs140936293		TCGA-HT-A617-01A-11D-A29Q-08	TCGA-HT-A617-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98008bb2-3c35-4a4f-b0a0-b80858eb1e21	9197147d-0b09-40ac-b6f3-ecaeb806034c	g.chr4:2877687G>A	ENST00000355842.3	+	3	908	c.45G>A	c.(43-45)ccG>ccA	p.P15P	ADD1_ENST00000264758.7_Silent_p.P15P|ADD1_ENST00000446856.1_Silent_p.P15P|ADD1_ENST00000513328.2_Silent_p.P15P|ADD1_ENST00000398129.1_Silent_p.P15P|ADD1_ENST00000398123.2_Silent_p.P15P|ADD1_ENST00000503455.2_Silent_p.P15P|ADD1_ENST00000398125.1_Silent_p.P15P			P35611	ADDA_HUMAN	adducin 1 (alpha)	15					actin filament bundle assembly|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|positive regulation of protein binding	cytosol|F-actin capping protein complex|nucleus|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding|transcription factor binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CACCACCCCCGACCACAGCCC	0.478													24	146					0	0	1	0	0	A	2877687	G	A	2877687	2	1	321	1	0	0	0	0	0	0	0	1	303	1045	37	1		1	ADD1	4	2877687	Silent	SNP	G	TCGA-HT-A617-01A-11D-A29Q-08		2877687	188276589	15	30422											
NFXL1	152518	broad.mit.edu	37	4	47850315	47850315	+	Silent	SNP	A	A	T			TCGA-HT-A617-01A-11D-A29Q-08	TCGA-HT-A617-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98008bb2-3c35-4a4f-b0a0-b80858eb1e21	9197147d-0b09-40ac-b6f3-ecaeb806034c	g.chr4:47850315A>T	ENST00000507489.1	-	23	2777	c.2601T>A	c.(2599-2601)cgT>cgA	p.R867R	NFXL1_ENST00000381538.3_Silent_p.R867R	NM_001278624.1	NP_001265553.1	Q6ZNB6	NFXL1_HUMAN	nuclear transcription factor, X-box binding-like 1	867						integral to membrane|nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(4)	27						TCTTCTTCCGACGACCCTTCA	0.348													7	29					0	0	1	0	0	T	47850315	A	T	47850315	2	4	321	1	0	0	0	0	0	0	0	1	10435	262	10	5		5	NFXL1	4	47850315	Silent	SNP	A	TCGA-HT-A617-01A-11D-A29Q-08	44972628	47850315	143303961	16	30423											
TMEM150C	441027	broad.mit.edu	37	4	83417256	83417256	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A617-01A-11D-A29Q-08	TCGA-HT-A617-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98008bb2-3c35-4a4f-b0a0-b80858eb1e21	9197147d-0b09-40ac-b6f3-ecaeb806034c	g.chr4:83417256C>T	ENST00000515780.2	-	6	532	c.328G>A	c.(328-330)Gct>Act	p.A110T	TMEM150C_ENST00000449862.2_Missense_Mutation_p.A110T|TMEM150C_ENST00000508701.1_Missense_Mutation_p.A110T|RP11-791G16.2_ENST00000488045.1_RNA			B9EJG8	T150C_HUMAN	transmembrane protein 150C							integral to membrane				ovary(1)	1						CCGAAGGAAGCCAGACACAGA	0.453													13	90					0	0	1	0	0	T	83417256	C	T	83417256	3	4	321	1	0	0	0	0	1	0	0	0	16129	739	26	2	433	2	TMEM150C	4	83417256	Missense_Mutation	SNP	C	TCGA-HT-A617-01A-11D-A29Q-08	35566941	83417256	107737020	17	30424											
DCLK2	166614	broad.mit.edu	37	4	151153904	151153904	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-A617-01A-11D-A29Q-08	TCGA-HT-A617-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98008bb2-3c35-4a4f-b0a0-b80858eb1e21	9197147d-0b09-40ac-b6f3-ecaeb806034c	g.chr4:151153904A>G	ENST00000296550.7	+	10	2244	c.1490A>G	c.(1489-1491)tAc>tGc	p.Y497C	DCLK2_ENST00000302176.8_Missense_Mutation_p.Y514C|DCLK2_ENST00000506325.1_Missense_Mutation_p.Y496C	NM_001040260.3	NP_001035350.2	Q8N568	DCLK2_HUMAN	doublecortin-like kinase 2	497	Protein kinase.				intracellular signal transduction	cytoplasm|cytoskeleton	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					GCCATGGTGTACAACTTAGCC	0.448													28	147					0	0	1	0	0	G	151153904	A	G	151153904	3	3	321	1	0	0	0	0	1	0	0	0	4315	391	14	3	1528	3	DCLK2	4	151153904	Missense_Mutation	SNP	A	TCGA-HT-A617-01A-11D-A29Q-08	67736648	151153904	40000372	18	30425											
RELN	5649	broad.mit.edu	37	7	103132428	103132428	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A617-01A-11D-A29Q-08	TCGA-HT-A617-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98008bb2-3c35-4a4f-b0a0-b80858eb1e21	9197147d-0b09-40ac-b6f3-ecaeb806034c	g.chr7:103132428C>T	ENST00000424685.2	-	58	9574	c.9415G>A	c.(9415-9417)Gta>Ata	p.V3139I	RELN_ENST00000428762.1_Missense_Mutation_p.V3139I|CTB-107G13.1_ENST00000422488.1_RNA|RELN_ENST00000343529.5_Missense_Mutation_p.V3139I			P78509	RELN_HUMAN	reelin	3139					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		TCCAGCATTACGGAATGAAGG	0.368													4	27					0	0	1	0	0	T	103132428	C	T	103132428	3	4	321	1	0	0	0	0	1	0	0	0	13272	536	19	1	999	1	RELN	7	103132428	Missense_Mutation	SNP	C	TCGA-HT-A617-01A-11D-A29Q-08		103132428	56006235	19	30426											
AGAP3	116988	broad.mit.edu	37	7	150840451	150840451	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A617-01A-11D-A29Q-08	TCGA-HT-A617-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98008bb2-3c35-4a4f-b0a0-b80858eb1e21	9197147d-0b09-40ac-b6f3-ecaeb806034c	g.chr7:150840451G>A	ENST00000397238.2	+	17	2297	c.2297G>A	c.(2296-2298)cGg>cAg	p.R766Q	AGAP3_ENST00000463381.1_Missense_Mutation_p.R435Q	NM_031946.4	NP_114152.3	Q96P47	AGAP3_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 3	730					regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm|membrane	ARF GTPase activator activity|GTP binding|GTPase activity|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1)	28						CGCTGGATACGGGCCAAGTAT	0.627													14	75					0	0	1	0	0	A	150840451	G	A	150840451	3	1	321	1	0	0	0	0	1	0	0	0	368	1116	39	1	2430	1	AGAP3	7	150840451	Missense_Mutation	SNP	G	TCGA-HT-A617-01A-11D-A29Q-08	47708023	150840451	8298212	20	30427											
KCNU1	157855	broad.mit.edu	37	8	36671862	36671862	+	Silent	SNP	G	G	T			TCGA-HT-A617-01A-11D-A29Q-08	TCGA-HT-A617-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98008bb2-3c35-4a4f-b0a0-b80858eb1e21	9197147d-0b09-40ac-b6f3-ecaeb806034c	g.chr8:36671862G>T	ENST00000399881.3	+	8	907	c.870G>T	c.(868-870)cgG>cgT	p.R290R		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	290						voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		CCTTAGGACGGACCTTCATCA	0.353													10	18					3.07112e-06	3.35031e-06	1	1	0	T	36671862	G	T	36671862	2	4	321	1	0	0	0	0	0	0	0	1	8137	1161	41	5		5	KCNU1	8	36671862	Silent	SNP	G	TCGA-HT-A617-01A-11D-A29Q-08		36671862	109692160	21	30428											
PKHD1L1	93035	broad.mit.edu	37	8	110468612	110468612	+	Silent	SNP	A	A	G			TCGA-HT-A617-01A-11D-A29Q-08	TCGA-HT-A617-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98008bb2-3c35-4a4f-b0a0-b80858eb1e21	9197147d-0b09-40ac-b6f3-ecaeb806034c	g.chr8:110468612A>G	ENST00000378402.5	+	46	7100	c.6996A>G	c.(6994-6996)acA>acG	p.T2332T		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2332					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TTGCAAGCACAGGACACAGGT	0.368										HNSCC(38;0.096)			3	9					0	0	1	0	0	G	110468612	A	G	110468612	2	3	321	1	0	0	0	0	0	0	0	1	12020	175	7	3		3	PKHD1L1	8	110468612	Silent	SNP	A	TCGA-HT-A617-01A-11D-A29Q-08	73796750	110468612	35895410	22	30429											
COL5A1	1289	broad.mit.edu	37	9	137704486	137704486	+	Silent	SNP	C	C	T	rs150591401	byFrequency	TCGA-HT-A617-01A-11D-A29Q-08	TCGA-HT-A617-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98008bb2-3c35-4a4f-b0a0-b80858eb1e21	9197147d-0b09-40ac-b6f3-ecaeb806034c	g.chr9:137704486C>T	ENST00000371817.3	+	48	4194	c.3780C>T	c.(3778-3780)tcC>tcT	p.S1260S		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	1260	Triple-helical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		GAGGACCCTCCGGAGCTCCAG	0.637													4	10					0	0	1	0	0	T	137704486	C	T	137704486	2	4	321	1	0	0	0	0	0	0	0	1	3719	639	23	1		1	COL5A1	9	137704486	Silent	SNP	C	TCGA-HT-A617-01A-11D-A29Q-08		137704486	3508945	23	30430											
ABTB2	25841	broad.mit.edu	37	11	34184211	34184211	+	Silent	SNP	G	G	A			TCGA-HT-A617-01A-11D-A29Q-08	TCGA-HT-A617-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98008bb2-3c35-4a4f-b0a0-b80858eb1e21	9197147d-0b09-40ac-b6f3-ecaeb806034c	g.chr11:34184211G>A	ENST00000435224.2	-	10	2554	c.2130C>T	c.(2128-2130)agC>agT	p.S710S	ABTB2_ENST00000298992.2_Silent_p.S524S	NM_145804.2	NP_665803.2	A8K6S9	A8K6S9_HUMAN	ankyrin repeat and BTB (POZ) domain containing 2	524							DNA binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(20;0.0691)				TGCGGGTCCGGCTCAGCCGCA	0.662													4	70					0	0	1	0	0	A	34184211	G	A	34184211	2	1	321	1	0	0	0	0	0	0	0	1	103	1194	42	2		2	ABTB2	11	34184211	Silent	SNP	G	TCGA-HT-A617-01A-11D-A29Q-08		34184211	100822305	24	30431											
ATF7IP2	80063	broad.mit.edu	37	16	10524502	10524502	+	Missense_Mutation	SNP	C	C	T	rs140651559		TCGA-HT-A617-01A-11D-A29Q-08	TCGA-HT-A617-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98008bb2-3c35-4a4f-b0a0-b80858eb1e21	9197147d-0b09-40ac-b6f3-ecaeb806034c	g.chr16:10524502C>T	ENST00000396560.2	+	3	252	c.25C>T	c.(25-27)Cgg>Tgg	p.R9W	ATF7IP2_ENST00000356427.2_Missense_Mutation_p.R9W|ATF7IP2_ENST00000324570.5_Missense_Mutation_p.R9W|ATF7IP2_ENST00000543967.1_Intron|ATF7IP2_ENST00000396559.1_Missense_Mutation_p.R9W	NM_024997.3	NP_079273.2	Q5U623	MCAF2_HUMAN	activating transcription factor 7 interacting protein 2	9					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				large_intestine(3)	3						TAGAAGTAAACGGAAGATATT	0.348													9	41					0	0	1	0	0	T	10524502	C	T	10524502	3	4	321	1	0	0	0	0	1	0	0	0	1087	527	19	1	27	1	ATF7IP2	16	10524502	Missense_Mutation	SNP	C	TCGA-HT-A617-01A-11D-A29Q-08		10524502	79830251	25	30432											
CDH1	999	broad.mit.edu	37	16	68846137	68846137	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A617-01A-11D-A29Q-08	TCGA-HT-A617-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98008bb2-3c35-4a4f-b0a0-b80858eb1e21	9197147d-0b09-40ac-b6f3-ecaeb806034c	g.chr16:68846137G>A	ENST00000261769.5	+	8	1299	c.1108G>A	c.(1108-1110)Gat>Aat	p.D370N	CDH1_ENST00000422392.2_Missense_Mutation_p.D370N|CDH1_ENST00000562836.1_3'UTR	NM_004360.3	NP_004351.1	P12830	CADH1_HUMAN	cadherin 1, type 1, E-cadherin (epithelial)	370	Cadherin 2.		D -> A (in a diffuse gastric cancer sample).		adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|positive regulation of transcription, DNA-dependent|regulation of immune response	actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|endosome|focal adhesion|Golgi apparatus|integral to membrane|internal side of plasma membrane|lateral plasma membrane|perinuclear region of cytoplasm	cell adhesion molecule binding|gamma-catenin binding	p.D370H(3)|p.S337_T379del(1)|p.?(1)		NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	311		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		TGACACCAACGATAATCCTCC	0.458			"Mis, N, F, S"		"lobular breast, gastric"	gastric			Hereditary Diffuse Gastric Cancer				18	63					0	0	1	0	0	A	68846137	G	A	68846137	3	1	321	1	0	0	0	0	1	0	0	0	3117	1058	37	1	1138	1	CDH1	16	68846137	Missense_Mutation	SNP	G	TCGA-HT-A617-01A-11D-A29Q-08	58321635	68846137	21508616	26	30433											
PKD1L2	114780	broad.mit.edu	37	16	81155068	81155069	+	RNA	INS	-	-	A			TCGA-HT-A617-01A-11D-A29Q-08	TCGA-HT-A617-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98008bb2-3c35-4a4f-b0a0-b80858eb1e21	9197147d-0b09-40ac-b6f3-ecaeb806034c	g.chr16:81155068_81155069insA	ENST00000534142.1	-	0	1000				PKD1L2_ENST00000533478.1_RNA|PKD1L2_ENST00000525539.1_RNA			Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						gactccatctcaaaaaaaaaaa	0.525													2	4	---	---	---	---						A	81155069	-	A	81155068	6	5	321	0	1	1	1	0	0	0	0	0	12013	841	29	0		0	PKD1L2	16	81155068	RNA	INS	-	TCGA-HT-A617-01A-11D-A29Q-08	12308931	81155068	9199685	27	30434											
MED1	5469	broad.mit.edu	37	17	37565209	37565209	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A617-01A-11D-A29Q-08	TCGA-HT-A617-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98008bb2-3c35-4a4f-b0a0-b80858eb1e21	9197147d-0b09-40ac-b6f3-ecaeb806034c	g.chr17:37565209C>T	ENST00000300651.6	-	17	3488	c.3265G>A	c.(3265-3267)Gtg>Atg	p.V1089M	MED1_ENST00000394287.3_Intron	NM_004774.3	NP_004765.2	Q15648	MED1_HUMAN	mediator complex subunit 1	1089	Ser-rich.				androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		GAGGAAGACACAGAACCACTG	0.488										HNSCC(31;0.082)			21	73					0	0	1	0	0	T	37565209	C	T	37565209	3	4	321	1	0	0	0	0	1	0	0	0	9475	478	17	2	1484	2	MED1	17	37565209	Missense_Mutation	SNP	C	TCGA-HT-A617-01A-11D-A29Q-08		37565209	43630001	28	30435											
C22orf42	150297	broad.mit.edu	37	22	32550285	32550285	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A617-01A-11D-A29Q-08	TCGA-HT-A617-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98008bb2-3c35-4a4f-b0a0-b80858eb1e21	9197147d-0b09-40ac-b6f3-ecaeb806034c	g.chr22:32550285G>A	ENST00000382097.3	-	2	325	c.253C>T	c.(253-255)Cgc>Tgc	p.R85C		NM_001010859.1	NP_001010859.1	Q6IC83	CV042_HUMAN	chromosome 22 open reading frame 42	85										NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(2)	24						TTTAACCAGCGCTTGGAGCGG	0.393													9	56					0	0	1	0	0	A	32550285	G	A	32550285	3	1	321	1	0	0	0	0	1	0	0	0	2163	1087	38	1	534	1	C22orf42	22	32550285	Missense_Mutation	SNP	G	TCGA-HT-A617-01A-11D-A29Q-08		32550285	18754281	29	30436											
SHROOM2	357	broad.mit.edu	37	X	9900906	9900906	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-A617-01A-11D-A29Q-08	TCGA-HT-A617-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98008bb2-3c35-4a4f-b0a0-b80858eb1e21	9197147d-0b09-40ac-b6f3-ecaeb806034c	g.chrX:9900906A>G	ENST00000380913.3	+	6	3673	c.3583A>G	c.(3583-3585)Acc>Gcc	p.T1195A	SHROOM2_ENST00000418909.2_Missense_Mutation_p.T30A|SHROOM2_ENST00000493668.1_3'UTR	NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN	shroom family member 2	1195					apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization	apical plasma membrane|cell-cell adherens junction|microtubule|tight junction	actin filament binding|beta-catenin binding|ligand-gated sodium channel activity			breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57		Hepatocellular(5;0.000888)				TGAGGATTCAACCAGGTACTG	0.627													14	23					0	0	1	0	0	G	9900906	A	G	9900906	3	3	321	1	0	0	0	0	1	0	0	0	14349	43	2	3	3605	3	SHROOM2	23	9900906	Missense_Mutation	SNP	A	TCGA-HT-A617-01A-11D-A29Q-08		9900906	145369654	30	30437											
ABCA4	24	broad.mit.edu	37	1	94480119	94480119	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HT-A618-01A-11D-A29Q-08	TCGA-HT-A618-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49fd71af-f8af-43dd-a5d6-caa20d4f82e4	193f9709-5167-4fb6-a1dd-b1c102d01e77	g.chr1:94480119C>A	ENST00000370225.3	-	38	5526	c.5440G>T	c.(5440-5442)Gaa>Taa	p.E1814*	ABCA4_ENST00000536513.1_Nonsense_Mutation_p.E84*	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	1814					phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		TCAAATAATTCCAAGATGAAG	0.438													32	169					6.00712e-18	6.82628e-18	1	1	0	A	94480119	C	A	94480119	4	1	322	1	0	0	0	0	0	1	0	0	34	864	30	5	1433	5	ABCA4	1	94480119	Nonsense_Mutation	SNP	C	TCGA-HT-A618-01A-11D-A29Q-08		94480119	154770502	1	30438	134	2									
ABCA4	24	broad.mit.edu	37	1	94480120	94480120	+	Missense_Mutation	SNP	C	C	A			TCGA-HT-A618-01A-11D-A29Q-08	TCGA-HT-A618-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49fd71af-f8af-43dd-a5d6-caa20d4f82e4	193f9709-5167-4fb6-a1dd-b1c102d01e77	g.chr1:94480120C>A	ENST00000370225.3	-	38	5525	c.5439G>T	c.(5437-5439)ttG>ttT	p.L1813F	ABCA4_ENST00000536513.1_Missense_Mutation_p.L83F	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	1813					phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		CAAATAATTCCAAGATGAAGG	0.438													32	172					6.00712e-18	6.82628e-18	1	1	0	A	94480120	C	A	94480120	3	1	322	1	0	0	0	0	1	0	0	0	34	593	21	5	1434	5	ABCA4	1	94480120	Missense_Mutation	SNP	C	TCGA-HT-A618-01A-11D-A29Q-08	1	94480120	154770501	2	30439	134	2									
FLG	2312	broad.mit.edu	37	1	152282080	152282080	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A618-01A-11D-A29Q-08	TCGA-HT-A618-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49fd71af-f8af-43dd-a5d6-caa20d4f82e4	193f9709-5167-4fb6-a1dd-b1c102d01e77	g.chr1:152282080C>T	ENST00000368799.1	-	3	5317	c.5282G>A	c.(5281-5283)cGt>cAt	p.R1761H	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1761	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGACCCTGAACGTCCAGACCT	0.602									Ichthyosis				36	394					0	0	1	0	0	T	152282080	C	T	152282080	3	4	322	1	0	0	0	0	1	0	0	0	5955	536	19	1	6907	1	FLG	1	152282080	Missense_Mutation	SNP	C	TCGA-HT-A618-01A-11D-A29Q-08	57801960	152282080	96968541	3	30440											
MUC1	4582	broad.mit.edu	37	1	155161799	155161799	+	Missense_Mutation	SNP	T	T	G			TCGA-HT-A618-01A-11D-A29Q-08	TCGA-HT-A618-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49fd71af-f8af-43dd-a5d6-caa20d4f82e4	193f9709-5167-4fb6-a1dd-b1c102d01e77	g.chr1:155161799T>G	ENST00000368395.1	-	2	405	c.334A>C	c.(334-336)Acc>Ccc	p.T112P	MUC1_ENST00000368389.2_Intron|MUC1_ENST00000342482.4_Intron|MUC1_ENST00000337604.5_Intron|MUC1_ENST00000368398.3_Intron|MUC1_ENST00000438413.1_Intron|MUC1_ENST00000462215.1_Intron|MUC1_ENST00000368390.3_Intron|MUC1_ENST00000368396.4_Intron|MUC1_ENST00000338684.5_Intron|MUC1_ENST00000368392.3_Intron|MUC1_ENST00000368393.3_Intron|MUC1_ENST00000343256.5_Intron|MUC1_ENST00000457295.2_Intron	NM_001204285.1|NM_001204286.1	NP_001191214.1|NP_001191215.1	P15941	MUC1_HUMAN	mucin 1, cell surface associated	892						apical plasma membrane|cell surface|cytoplasm|extracellular region|integral to plasma membrane|nucleus	protein binding			breast(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|skin(2)	10	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;5.31e-10)|all cancers(21;2.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			GCTGGCGGGGTGGTGGAGCCC	0.711			T	IGH@	B-NHL								11	17					0	0	1	0	0	G	155161799	T	G	155161799	3	3	322	1	0	0	0	0	1	0	0	0	10018	1711	59	5		5	MUC1	1	155161799	Missense_Mutation	SNP	T	TCGA-HT-A618-01A-11D-A29Q-08	2879719	155161799	94088822	4	30441											
PRG4	10216	broad.mit.edu	37	1	186276640	186276640	+	Missense_Mutation	SNP	A	A	C			TCGA-HT-A618-01A-11D-A29Q-08	TCGA-HT-A618-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49fd71af-f8af-43dd-a5d6-caa20d4f82e4	193f9709-5167-4fb6-a1dd-b1c102d01e77	g.chr1:186276640A>C	ENST00000445192.2	+	7	1834	c.1789A>C	c.(1789-1791)Acc>Ccc	p.T597P	PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367485.4_Missense_Mutation_p.T504P|PRG4_ENST00000367483.4_Missense_Mutation_p.T556P|PRG4_ENST00000367486.3_Missense_Mutation_p.T554P	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	597	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	p.T597P(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						ACCCACCACCACCAAGAAGCC	0.652													8	146					0	0	1	0	0	C	186276640	A	C	186276640	3	2	322	1	0	0	0	0	1	0	0	0	12533	159	6	5	1811	5	PRG4	1	186276640	Missense_Mutation	SNP	A	TCGA-HT-A618-01A-11D-A29Q-08	31114841	186276640	62973981	5	30442											
OR2M2	391194	broad.mit.edu	37	1	248343709	248343709	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-A618-01A-11D-A29Q-08	TCGA-HT-A618-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49fd71af-f8af-43dd-a5d6-caa20d4f82e4	193f9709-5167-4fb6-a1dd-b1c102d01e77	g.chr1:248343709G>T	ENST00000359682.2	+	1	422	c.422G>T	c.(421-423)tGt>tTt	p.C141F		NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M, member 2	141					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			CCTAAAATTTGTGGACTTATG	0.423													12	283					2.27111e-07	2.52346e-07	1	1	0	T	248343709	G	T	248343709	3	4	322	1	0	0	0	0	1	0	0	0	11058	1377	48	5	424	5	OR2M2	1	248343709	Missense_Mutation	SNP	G	TCGA-HT-A618-01A-11D-A29Q-08	62067069	248343709	906912	6	30443											
APOB	338	broad.mit.edu	37	2	21228468	21228468	+	Missense_Mutation	SNP	C	C	A			TCGA-HT-A618-01A-11D-A29Q-08	TCGA-HT-A618-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49fd71af-f8af-43dd-a5d6-caa20d4f82e4	193f9709-5167-4fb6-a1dd-b1c102d01e77	g.chr2:21228468C>A	ENST00000233242.1	-	26	11399	c.11272G>T	c.(11272-11274)Gtt>Ttt	p.V3758F		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	3758					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	CACGATGGAACCTGAAGATCT	0.388													28	138					2.4375e-19	2.90178e-19	1	1	0	A	21228468	C	A	21228468	3	1	322	1	0	0	0	0	1	0	0	0	782	507	18	5	2435	5	APOB	2	21228468	Missense_Mutation	SNP	C	TCGA-HT-A618-01A-11D-A29Q-08		21228468	221970905	7	30444											
CGREF1	10669	broad.mit.edu	37	2	27325300	27325300	+	Splice_Site	SNP	T	T	C			TCGA-HT-A618-01A-11D-A29Q-08	TCGA-HT-A618-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49fd71af-f8af-43dd-a5d6-caa20d4f82e4	193f9709-5167-4fb6-a1dd-b1c102d01e77	g.chr2:27325300T>C	ENST00000402394.1	-	4	415		c.e4-2		CGREF1_ENST00000405600.1_Splice_Site|CGREF1_ENST00000260595.5_Splice_Site|CGREF1_ENST00000404694.3_Splice_Site|CGREF1_ENST00000402550.1_Splice_Site|CGREF1_ENST00000452318.2_Splice_Site|CGREF1_ENST00000312734.4_Splice_Site	NM_006569.5	NP_006560.3	Q99674	CGRE1_HUMAN	cell growth regulator with EF-hand domain 1						cell adhesion|cell cycle arrest|negative regulation of cell proliferation|response to stress	extracellular region	calcium ion binding			kidney(1)|lung(4)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGCAGAAGTCTGTCAGAAAAG	0.617													4	55					0	0	1	0	0	C	27325300	T	C	27325300	5	2	322	1	0	0	0	0	0	0	1	0	3327	1594	55	3	1015	3	CGREF1	2	27325300	Splice_Site	SNP	T	TCGA-HT-A618-01A-11D-A29Q-08	6096832	27325300	215874073	8	30445											
TTN	7273	broad.mit.edu	37	2	179430063	179430063	+	Silent	SNP	A	A	T			TCGA-HT-A618-01A-11D-A29Q-08	TCGA-HT-A618-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49fd71af-f8af-43dd-a5d6-caa20d4f82e4	193f9709-5167-4fb6-a1dd-b1c102d01e77	g.chr2:179430063A>T	ENST00000589042.1	-	326	81020	c.80796T>A	c.(80794-80796)gcT>gcA	p.A26932A	TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000591111.1_Silent_p.A25291A|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000359218.5_Silent_p.A17992A|TTN_ENST00000342175.6_Silent_p.A18059A|TTN_ENST00000342992.6_Silent_p.A24364A|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000460472.2_Silent_p.A17867A|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586831.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	25291	Fibronectin type-III 96.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAGTTGAGGTAGCTGTTTCTT	0.398													4	127					0	0	1	0	0	T	179430063	A	T	179430063	2	4	322	1	0	0	0	0	0	0	0	1	16797	407	15	5		5	TTN	2	179430063	Silent	SNP	A	TCGA-HT-A618-01A-11D-A29Q-08	152104763	179430063	63769310	9	30446											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-HT-A618-01A-11D-A29Q-08	TCGA-HT-A618-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49fd71af-f8af-43dd-a5d6-caa20d4f82e4	193f9709-5167-4fb6-a1dd-b1c102d01e77	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								5	40					0	0	1	0	0	T	209113112	C	T	209113112	3	4	322	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HT-A618-01A-11D-A29Q-08	29683049	209113112	34086261	10	30447											
POLN	353497	broad.mit.edu	37	4	2073954	2073954	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A618-01A-11D-A29Q-08	TCGA-HT-A618-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49fd71af-f8af-43dd-a5d6-caa20d4f82e4	193f9709-5167-4fb6-a1dd-b1c102d01e77	g.chr4:2073954G>A	ENST00000511885.2	-	26	2943	c.2590C>T	c.(2590-2592)Cct>Tct	p.P864S	POLN_ENST00000382865.1_Missense_Mutation_p.P864S			Q7Z5Q5	DPOLN_HUMAN	polymerase (DNA directed) nu	864					DNA repair|DNA replication	nucleus	DNA binding|DNA-directed DNA polymerase activity			kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(2)|skin(4)|urinary_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(23;0.0955)			CCTGGCGGAGGGCCCCAGGCC	0.692								DNA polymerases (catalytic subunits)					8	64					0	0	1	0	0	A	2073954	G	A	2073954	3	1	322	1	0	0	0	0	1	0	0	0	12255	1232	43	2	116	2	POLN	4	2073954	Missense_Mutation	SNP	G	TCGA-HT-A618-01A-11D-A29Q-08		2073954	189080322	11	30448											
SH3BP2	6452	broad.mit.edu	37	4	2834097	2834097	+	Missense_Mutation	SNP	T	T	A			TCGA-HT-A618-01A-11D-A29Q-08	TCGA-HT-A618-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49fd71af-f8af-43dd-a5d6-caa20d4f82e4	193f9709-5167-4fb6-a1dd-b1c102d01e77	g.chr4:2834097T>A	ENST00000442312.2	+	11	1709	c.1530T>A	c.(1528-1530)gaT>gaA	p.D510E	SH3BP2_ENST00000452765.2_Missense_Mutation_p.D482E|SH3BP2_ENST00000435136.2_Missense_Mutation_p.D482E|SH3BP2_ENST00000503393.2_Missense_Mutation_p.D539E|SH3BP2_ENST00000356331.5_Missense_Mutation_p.D482E|SH3BP2_ENST00000511747.1_Missense_Mutation_p.D482E	NM_001145855.1	NP_001139327.1	P78314	3BP2_HUMAN	SH3-domain binding protein 2	482	SH2.				signal transduction		SH3 domain binding|SH3/SH2 adaptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	20				UCEC - Uterine corpus endometrioid carcinoma (64;0.164)		AGCCCCAGGATGGACTCTACT	0.592									Cherubism				7	178					0	0	1	0	0	A	2834097	T	A	2834097	3	1	322	1	0	0	0	0	1	0	0	0	14299	1461	51	4	1743	4	SH3BP2	4	2834097	Missense_Mutation	SNP	T	TCGA-HT-A618-01A-11D-A29Q-08	760143	2834097	188320179	12	30449											
FBXW7	55294	broad.mit.edu	37	4	153244137	153244137	+	Missense_Mutation	SNP	G	G	A	rs140856583	byFrequency	TCGA-HT-A618-01A-11D-A29Q-08	TCGA-HT-A618-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49fd71af-f8af-43dd-a5d6-caa20d4f82e4	193f9709-5167-4fb6-a1dd-b1c102d01e77	g.chr4:153244137G>A	ENST00000281708.4	-	12	3249	c.2020C>T	c.(2020-2022)Cgg>Tgg	p.R674W	FBXW7_ENST00000603841.1_Missense_Mutation_p.R674W|FBXW7_ENST00000263981.5_Missense_Mutation_p.R594W|FBXW7_ENST00000603548.1_Missense_Mutation_p.R674W|FBXW7_ENST00000296555.5_Missense_Mutation_p.R556W|FBXW7_ENST00000393956.3_Missense_Mutation_p.R498W	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	674					interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleoplasm|SCF ubiquitin ligase complex	protein binding	p.?(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				GCTCTGATCCGCCACACAACT	0.493			"Mis, N, D, F"		"colorectal, endometrial, T-ALL"								49	109					0	0	1	0	0	A	153244137	G	A	153244137	3	1	322	1	0	0	0	0	1	0	0	0	5802	1086	38	1	107	1	FBXW7	4	153244137	Missense_Mutation	SNP	G	TCGA-HT-A618-01A-11D-A29Q-08	150410040	153244137	37910139	13	30450											
TBP	6908	broad.mit.edu	37	6	170871040	170871040	+	Silent	SNP	A	A	G	rs10592950		TCGA-HT-A618-01A-11D-A29Q-08	TCGA-HT-A618-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49fd71af-f8af-43dd-a5d6-caa20d4f82e4	193f9709-5167-4fb6-a1dd-b1c102d01e77	g.chr6:170871040A>G	ENST00000392092.2	+	3	495	c.216A>G	c.(214-216)caA>caG	p.Q72Q	TBP_ENST00000230354.6_Silent_p.Q72Q|TBP_ENST00000540980.1_Silent_p.Q52Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	72	Poly-Gln.				cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction	transcription factor TFIIA complex|transcription factor TFIID complex	repressing transcription factor binding|transcription regulatory region DNA binding	p.Q72del(3)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		agcagcagcaacagcaacagc	0.567													5	95					0	0	1	0	0	G	170871040	A	G	170871040	2	3	322	1	0	0	0	0	0	0	0	1	15704	40	2	3		3	TBP	6	170871040	Silent	SNP	A	TCGA-HT-A618-01A-11D-A29Q-08		170871040	244027	14	30451	135	2									
TBP	6908	broad.mit.edu	37	6	170871046	170871046	+	Silent	SNP	A	A	G	rs10592951		TCGA-HT-A618-01A-11D-A29Q-08	TCGA-HT-A618-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49fd71af-f8af-43dd-a5d6-caa20d4f82e4	193f9709-5167-4fb6-a1dd-b1c102d01e77	g.chr6:170871046A>G	ENST00000392092.2	+	3	501	c.222A>G	c.(220-222)caA>caG	p.Q74Q	TBP_ENST00000230354.6_Silent_p.Q74Q|TBP_ENST00000540980.1_Silent_p.Q54Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	74	Poly-Gln.				cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction	transcription factor TFIIA complex|transcription factor TFIID complex	repressing transcription factor binding|transcription regulatory region DNA binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		agcaacagcaacagcagcagc	0.567													6	90					0	0	1	0	0	G	170871046	A	G	170871046	2	3	322	1	0	0	0	0	0	0	0	1	15704	40	2	3		3	TBP	6	170871046	Silent	SNP	A	TCGA-HT-A618-01A-11D-A29Q-08	6	170871046	244021	15	30452	135	2									
PCLO	27445	broad.mit.edu	37	7	82583285	82583285	+	Silent	SNP	G	G	A			TCGA-HT-A618-01A-11D-A29Q-08	TCGA-HT-A618-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49fd71af-f8af-43dd-a5d6-caa20d4f82e4	193f9709-5167-4fb6-a1dd-b1c102d01e77	g.chr7:82583285G>A	ENST00000333891.9	-	5	7321	c.6984C>T	c.(6982-6984)gcC>gcT	p.A2328A	PCLO_ENST00000423517.2_Silent_p.A2328A	NM_033026.5	NP_149015.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein		Pro-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	p.A2328A(2)|p.A2259A(1)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TTGTTCGTTCGGCCTCCAACT	0.413													22	135					0	0	1	0	0	A	82583285	G	A	82583285	2	1	322	1	0	0	0	0	0	0	0	1	11630	1103	39	1		1	PCLO	7	82583285	Silent	SNP	G	TCGA-HT-A618-01A-11D-A29Q-08		82583285	76555378	16	30453											
EPHB4	2050	broad.mit.edu	37	7	100421497	100421497	+	Silent	SNP	C	C	A			TCGA-HT-A618-01A-11D-A29Q-08	TCGA-HT-A618-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49fd71af-f8af-43dd-a5d6-caa20d4f82e4	193f9709-5167-4fb6-a1dd-b1c102d01e77	g.chr7:100421497C>A	ENST00000358173.3	-	3	648	c.180G>T	c.(178-180)gtG>gtT	p.V60V	EPHB4_ENST00000477446.1_5'UTR|EPHB4_ENST00000360620.3_Silent_p.V60V	NM_004444.4	NP_004435.3	P54760	EPHB4_HUMAN	EPH receptor B4	60					cell proliferation|organ morphogenesis|regulation of angiogenesis	cell surface|integral to plasma membrane	ATP binding|ephrin receptor activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47	Lung NSC(181;0.041)|all_lung(186;0.0581)					GCACGTCACACACTTCGTAGG	0.682													10	34					2.17888e-05	2.31795e-05	1	1	0	A	100421497	C	A	100421497	2	1	322	1	0	0	0	0	0	0	0	1	5205	465	17	5		5	EPHB4	7	100421497	Silent	SNP	C	TCGA-HT-A618-01A-11D-A29Q-08	17838212	100421497	58717166	17	30454											
PI15	51050	broad.mit.edu	37	8	75756325	75756325	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A618-01A-11D-A29Q-08	TCGA-HT-A618-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49fd71af-f8af-43dd-a5d6-caa20d4f82e4	193f9709-5167-4fb6-a1dd-b1c102d01e77	g.chr8:75756325G>A	ENST00000260113.2	+	3	562	c.383G>A	c.(382-384)cGc>cAc	p.R128H	RP11-758M4.4_ENST00000518128.1_RNA|PI15_ENST00000523773.1_Missense_Mutation_p.R128H|RP11-758M4.4_ENST00000523860.1_RNA	NM_015886.3	NP_056970.1	O43692	PI15_HUMAN	peptidase inhibitor 15	128						extracellular region	peptidase inhibitor activity	p.R128H(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|skin(1)	30	Breast(64;0.137)		BRCA - Breast invasive adenocarcinoma(89;0.104)|Epithelial(68;0.118)			CTATCTGTACGCACTGGAAGG	0.408													14	149					0	0	1	0	0	A	75756325	G	A	75756325	3	1	322	1	0	0	0	0	1	0	0	0	11916	1087	38	1	389	1	PI15	8	75756325	Missense_Mutation	SNP	G	TCGA-HT-A618-01A-11D-A29Q-08		75756325	70607697	18	30455											
KCNQ3	3786	broad.mit.edu	37	8	133192522	133192522	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-A618-01A-11D-A29Q-08	TCGA-HT-A618-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49fd71af-f8af-43dd-a5d6-caa20d4f82e4	193f9709-5167-4fb6-a1dd-b1c102d01e77	g.chr8:133192522T>C	ENST00000388996.4	-	4	1079	c.659A>G	c.(658-660)aAt>aGt	p.N220S	KCNQ3_ENST00000521134.1_Missense_Mutation_p.N100S|KCNQ3_ENST00000519445.1_Missense_Mutation_p.N220S	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	220					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			GGCCAGAACATTGCCTTGGTT	0.597													11	123					0	0	1	0	0	C	133192522	T	C	133192522	3	2	322	1	0	0	0	0	1	0	0	0	8128	1493	52	3	2007	3	KCNQ3	8	133192522	Missense_Mutation	SNP	T	TCGA-HT-A618-01A-11D-A29Q-08	57436197	133192522	13171500	19	30456											
ADAMTSL1	92949	broad.mit.edu	37	9	18829917	18829917	+	Silent	SNP	G	G	A			TCGA-HT-A618-01A-11D-A29Q-08	TCGA-HT-A618-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49fd71af-f8af-43dd-a5d6-caa20d4f82e4	193f9709-5167-4fb6-a1dd-b1c102d01e77	g.chr9:18829917G>A	ENST00000380548.4	+	23	4530	c.4191G>A	c.(4189-4191)gtG>gtA	p.V1397V	ADAMTSL1_ENST00000380545.5_Silent_p.V98V	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	1397	Ig-like C2-type 4.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		TTCCTTCAGTGCTGACGTCTC	0.572													6	46					0	0	1	0	0	A	18829917	G	A	18829917	2	1	322	1	0	0	0	0	0	0	0	1	273	1306	46	2		2	ADAMTSL1	9	18829917	Silent	SNP	G	TCGA-HT-A618-01A-11D-A29Q-08		18829917	122383514	20	30457											
LRIT2	340745	broad.mit.edu	37	10	85984831	85984832	+	Frame_Shift_Ins	INS	-	-	G			TCGA-HT-A618-01A-11D-A29Q-08	TCGA-HT-A618-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49fd71af-f8af-43dd-a5d6-caa20d4f82e4	193f9709-5167-4fb6-a1dd-b1c102d01e77	g.chr10:85984831_85984832insG	ENST00000372113.4	-	2	154_155	c.149_150insC	c.(148-150)cctfs	p.P50fs	LRIT2_ENST00000538192.1_Frame_Shift_Ins_p.P50fs	NM_001017924.2	NP_001017924.1	A6NDA9	LRIT2_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 2	50	LRRNT.					integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|prostate(6)|urinary_tract(1)	32						AAAGGTTCCCAGGGATCTTTCC	0.455													18	76	---	---	---	---						G	85984832	-	G	85984831	7	5	322	1	0	1	1	0	0	0	0	0	8993	175	7	0	1510	0	LRIT2	10	85984831	Frame_Shift_Ins	INS	-	TCGA-HT-A618-01A-11D-A29Q-08		85984831	49549916	21	30458											
OR4A15	81328	broad.mit.edu	37	11	55136013	55136013	+	Silent	SNP	C	C	A			TCGA-HT-A618-01A-11D-A29Q-08	TCGA-HT-A618-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49fd71af-f8af-43dd-a5d6-caa20d4f82e4	193f9709-5167-4fb6-a1dd-b1c102d01e77	g.chr11:55136013C>A	ENST00000314706.3	+	1	654	c.654C>A	c.(652-654)acC>acA	p.T218T		NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A, member 15	218					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						TTGCTTGCACCAATACCTATG	0.413													4	84					1	1	1	1	0	A	55136013	C	A	55136013	2	1	322	1	0	0	0	0	0	0	0	1	11088	581	21	5		5	OR4A15	11	55136013	Silent	SNP	C	TCGA-HT-A618-01A-11D-A29Q-08		55136013	79870503	22	30459											
OR5M11	219487	broad.mit.edu	37	11	56310051	56310051	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-A618-01A-11D-A29Q-08	TCGA-HT-A618-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49fd71af-f8af-43dd-a5d6-caa20d4f82e4	193f9709-5167-4fb6-a1dd-b1c102d01e77	g.chr11:56310051T>C	ENST00000528616.2	-	1	706	c.683A>G	c.(682-684)aAa>aGa	p.K228R		NM_001005245.1	NP_001005245.1	Q96RB7	OR5MB_HUMAN	olfactory receptor, family 5, subfamily M, member 11	228					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)	18						CTCTGCTGATTTGATCCGGAG	0.498													28	62					0	0	1	0	0	C	56310051	T	C	56310051	3	2	322	1	0	0	0	0	1	0	0	0	11221	1841	64	3	237	3	OR5M11	11	56310051	Missense_Mutation	SNP	T	TCGA-HT-A618-01A-11D-A29Q-08	1174038	56310051	78696465	23	30460											
APLNR	187	broad.mit.edu	37	11	57003704	57003704	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-A618-01A-11D-A29Q-08	TCGA-HT-A618-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49fd71af-f8af-43dd-a5d6-caa20d4f82e4	193f9709-5167-4fb6-a1dd-b1c102d01e77	g.chr11:57003704G>T	ENST00000606794.1	-	1	971	c.775C>A	c.(775-777)Ctg>Atg	p.L259M		NM_005161.4	NP_005152.1	P35414	APJ_HUMAN	apelin receptor	259						integral to plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						ATCCAGCACAGGGCAAAGGTC	0.612													7	66					2.0095e-06	2.18424e-06	1	1	0	T	57003704	G	T	57003704	3	4	322	1	0	0	0	0	1	0	0	0	774	991	35	4	371	4	APLNR	11	57003704	Missense_Mutation	SNP	G	TCGA-HT-A618-01A-11D-A29Q-08	693653	57003704	78002812	24	30461											
SIPA1	6494	broad.mit.edu	37	11	65408860	65408860	+	Silent	SNP	G	G	A			TCGA-HT-A618-01A-11D-A29Q-08	TCGA-HT-A618-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49fd71af-f8af-43dd-a5d6-caa20d4f82e4	193f9709-5167-4fb6-a1dd-b1c102d01e77	g.chr11:65408860G>A	ENST00000394224.3	+	2	764	c.468G>A	c.(466-468)tcG>tcA	p.S156S	SIPA1_ENST00000534313.1_Silent_p.S156S|SIPA1_ENST00000527525.1_Silent_p.S156S|SIPA1_ENST00000394227.3_Silent_p.S156S	NM_153253.29	NP_694985.29	Q96FS4	SIPA1_HUMAN	signal-induced proliferation-associated 1	156					cell proliferation|cytoskeleton organization|intracellular signal transduction|negative regulation of cell adhesion|negative regulation of cell cycle|negative regulation of cell growth	cytosol|endomembrane system|membrane|perinuclear region of cytoplasm	Rap GTPase activator activity			cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	10						CTGCCAGCTCGGACCTGCTGC	0.667													33	83					0	0	1	0	0	A	65408860	G	A	65408860	2	1	322	1	0	0	0	0	0	0	0	1	14383	1103	39	1		1	SIPA1	11	65408860	Silent	SNP	G	TCGA-HT-A618-01A-11D-A29Q-08	8405156	65408860	69597656	25	30462											
USP44	84101	broad.mit.edu	37	12	95914959	95914959	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HT-A618-01A-11D-A29Q-08	TCGA-HT-A618-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49fd71af-f8af-43dd-a5d6-caa20d4f82e4	193f9709-5167-4fb6-a1dd-b1c102d01e77	g.chr12:95914959G>A	ENST00000258499.3	-	5	2041	c.1753C>T	c.(1753-1755)Cga>Tga	p.R585*	USP44_ENST00000537435.2_Nonsense_Mutation_p.R585*|USP44_ENST00000552440.1_Intron|USP44_ENST00000393091.2_Nonsense_Mutation_p.R585*	NM_001278393.1|NM_032147.2	NP_001265322.1|NP_115523.2	Q9H0E7	UBP44_HUMAN	ubiquitin specific peptidase 44	585					anaphase|cell division|mitosis|negative regulation of mitotic anaphase-promoting complex activity|protein deubiquitination|regulation of spindle checkpoint|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(5)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	36						ATCTTCTCTCGGTTATTACGT	0.423													18	55					0	0	1	0	0	A	95914959	G	A	95914959	4	1	322	1	0	0	0	0	0	1	0	0	17135	1124	39	1	393	1	USP44	12	95914959	Nonsense_Mutation	SNP	G	TCGA-HT-A618-01A-11D-A29Q-08		95914959	37936936	26	30463											
PCNX	22990	broad.mit.edu	37	14	71443880	71443880	+	Nonsense_Mutation	SNP	A	A	T			TCGA-HT-A618-01A-11D-A29Q-08	TCGA-HT-A618-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49fd71af-f8af-43dd-a5d6-caa20d4f82e4	193f9709-5167-4fb6-a1dd-b1c102d01e77	g.chr14:71443880A>T	ENST00000304743.2	+	6	1272	c.826A>T	c.(826-828)Aaa>Taa	p.K276*	PCNX_ENST00000238570.5_Nonsense_Mutation_p.K276*|PCNX_ENST00000439984.3_Nonsense_Mutation_p.K276*	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	276						integral to membrane				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		CTCTTATAGAAAAGACCACCG	0.493													19	55					0	0	1	0	0	T	71443880	A	T	71443880	4	4	322	1	0	0	0	0	0	1	0	0	11638	15	1	5	848	5	PCNX	14	71443880	Nonsense_Mutation	SNP	A	TCGA-HT-A618-01A-11D-A29Q-08		71443880	35905660	27	30464											
THSD4	79875	broad.mit.edu	37	15	72040864	72040864	+	Silent	SNP	G	G	A			TCGA-HT-A618-01A-11D-A29Q-08	TCGA-HT-A618-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49fd71af-f8af-43dd-a5d6-caa20d4f82e4	193f9709-5167-4fb6-a1dd-b1c102d01e77	g.chr15:72040864G>A	ENST00000355327.3	+	14	2480	c.2346G>A	c.(2344-2346)ccG>ccA	p.P782P	THSD4_ENST00000567838.1_3'UTR|THSD4_ENST00000261862.6_Silent_p.P782P|THSD4_ENST00000357769.4_Silent_p.P422P			Q6ZMP0	THSD4_HUMAN	thrombospondin, type I, domain containing 4	782	TSP type-1 3.					proteinaceous extracellular matrix	metalloendopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						AGCTCCGGCCGAATGACATTG	0.597													12	49					0	0	1	0	0	A	72040864	G	A	72040864	2	1	322	1	0	0	0	0	0	0	0	1	15938	1045	37	1		1	THSD4	15	72040864	Silent	SNP	G	TCGA-HT-A618-01A-11D-A29Q-08		72040864	30490528	28	30465											
ARRDC4	91947	broad.mit.edu	37	15	98504133	98504133	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HT-A618-01A-11D-A29Q-08	TCGA-HT-A618-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49fd71af-f8af-43dd-a5d6-caa20d4f82e4	193f9709-5167-4fb6-a1dd-b1c102d01e77	g.chr15:98504133delG	ENST00000268042.6	+	1	206	c.42delG	c.(40-42)gagfs	p.E14fs	ARRDC4_ENST00000538249.1_Intron	NM_183376.2	NP_899232.2	Q8NCT1	ARRD4_HUMAN	arrestin domain containing 4	14					signal transduction					breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|skin(3)	16	Melanoma(26;0.00539)|Lung NSC(78;0.0125)|all_lung(78;0.0222)		OV - Ovarian serous cystadenocarcinoma(32;0.0417)			TGGGTGCCGAGGGCCGCGTGA	0.741													2	4	---	---	---	---						-	98504133	G	-	98504133	7	5	322	1	0	1	0	1	0	0	0	0	984	991	35	0	44	0	ARRDC4	15	98504133	Frame_Shift_Del	DEL	G	TCGA-HT-A618-01A-11D-A29Q-08	26463269	98504133	4027259	29	30466											
CDH8	1006	broad.mit.edu	37	16	61891032	61891032	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A618-01A-11D-A29Q-08	TCGA-HT-A618-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49fd71af-f8af-43dd-a5d6-caa20d4f82e4	193f9709-5167-4fb6-a1dd-b1c102d01e77	g.chr16:61891032G>A	ENST00000577390.1	-	4	1612	c.658C>T	c.(658-660)Cct>Tct	p.P220S	CDH8_ENST00000584337.1_Missense_Mutation_p.P220S|CDH8_ENST00000299345.6_Missense_Mutation_p.P220S|CDH8_ENST00000577730.1_Missense_Mutation_p.P220S	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	220	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		CCTGTTTCAGGCTCAATGGAA	0.393													28	45					0	0	1	0	0	A	61891032	G	A	61891032	3	1	322	1	0	0	0	0	1	0	0	0	3138	1203	42	2	1777	2	CDH8	16	61891032	Missense_Mutation	SNP	G	TCGA-HT-A618-01A-11D-A29Q-08		61891032	28463721	30	30467											
TP53	7157	broad.mit.edu	37	17	7577094	7577094	+	Missense_Mutation	SNP	G	G	A	rs28934574		TCGA-HT-A618-01A-11D-A29Q-08	TCGA-HT-A618-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49fd71af-f8af-43dd-a5d6-caa20d4f82e4	193f9709-5167-4fb6-a1dd-b1c102d01e77	g.chr17:7577094G>A	ENST00000420246.2	-	8	976	c.844C>T	c.(844-846)Cgg>Tgg	p.R282W	TP53_ENST00000269305.4_Missense_Mutation_p.R282W|TP53_ENST00000445888.2_Missense_Mutation_p.R282W|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.R282W|TP53_ENST00000455263.2_Missense_Mutation_p.R282W	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	282	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		DR -> EW (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934574).		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.R282W(401)|p.R282G(29)|p.0?(8)|p.R282fs*24(4)|p.R282R(3)|p.?(2)|p.D281fs*63(2)|p.D281_R282>EW(2)|p.A276_R283delACPGRDRR(1)|p.D281_R282insXX(1)|p.C275fs*20(1)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.D281_R282delDR(1)|p.G279fs*59(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.R282fs*63(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(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)		TCTGTGCGCCGGTCTCTCCCA	0.557		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)			44	14					0	0	1	0	0	A	7577094	G	A	7577094	3	1	322	1	0	0	0	0	1	0	0	0	16442	1115	39	1	442	1	TP53	17	7577094	Missense_Mutation	SNP	G	TCGA-HT-A618-01A-11D-A29Q-08		7577094	73618116	31	30468											
ITGB4	3691	broad.mit.edu	37	17	73736512	73736512	+	Silent	SNP	C	C	T			TCGA-HT-A618-01A-11D-A29Q-08	TCGA-HT-A618-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49fd71af-f8af-43dd-a5d6-caa20d4f82e4	193f9709-5167-4fb6-a1dd-b1c102d01e77	g.chr17:73736512C>T	ENST00000200181.3	+	21	2707	c.2520C>T	c.(2518-2520)tgC>tgT	p.C840C	ITGB4_ENST00000579662.1_Silent_p.C840C|ITGB4_ENST00000450894.3_Silent_p.C840C|ITGB4_ENST00000584558.1_3'UTR|ITGB4_ENST00000339591.3_Silent_p.C840C|ITGB4_ENST00000449880.2_Silent_p.C840C	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	840					cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			CTCGGGAGTGCGCCCAGCTGC	0.662													4	66					0	0	1	0	0	T	73736512	C	T	73736512	2	4	322	1	0	0	0	0	0	0	0	1	7941	776	27	1		1	ITGB4	17	73736512	Silent	SNP	C	TCGA-HT-A618-01A-11D-A29Q-08	66159418	73736512	7458698	32	30469											
TNRC6C	57690	broad.mit.edu	37	17	76047335	76047335	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HT-A618-01A-11D-A29Q-08	TCGA-HT-A618-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49fd71af-f8af-43dd-a5d6-caa20d4f82e4	193f9709-5167-4fb6-a1dd-b1c102d01e77	g.chr17:76047335delG	ENST00000335749.4	+	3	2761	c.2192delG	c.(2191-2193)tggfs	p.W731fs	TNRC6C_ENST00000588061.1_Frame_Shift_Del_p.W731fs|TNRC6C_ENST00000301624.4_Frame_Shift_Del_p.W731fs|TNRC6C_ENST00000544502.1_Frame_Shift_Del_p.W731fs|TNRC6C_ENST00000541771.1_Frame_Shift_Del_p.W731fs|TNRC6C_ENST00000588847.1_Frame_Shift_Del_p.W731fs	NM_001142640.1	NP_001136112.1	Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C	731	Sufficient for interaction with argonaute family proteins.				gene silencing by RNA|regulation of translation		nucleotide binding|RNA binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			ACCTCAGCTTGGGGGGACCCA	0.507													2	4	---	---	---	---						-	76047335	G	-	76047335	7	5	322	1	0	1	0	1	0	0	0	0	16402	1357	47	0	2194	0	TNRC6C	17	76047335	Frame_Shift_Del	DEL	G	TCGA-HT-A618-01A-11D-A29Q-08	2310823	76047335	5147875	33	30470											
RFX2	5990	broad.mit.edu	37	19	6013017	6013017	+	Silent	SNP	C	C	T			TCGA-HT-A618-01A-11D-A29Q-08	TCGA-HT-A618-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49fd71af-f8af-43dd-a5d6-caa20d4f82e4	193f9709-5167-4fb6-a1dd-b1c102d01e77	g.chr19:6013017C>T	ENST00000303657.5	-	8	1028	c.879G>A	c.(877-879)caG>caA	p.Q293Q	RFX2_ENST00000592546.1_Silent_p.Q268Q|RFX2_ENST00000359161.3_Silent_p.Q293Q|CTC-232P5.1_ENST00000587836.1_RNA	NM_000635.3	NP_000626.2	P48378	RFX2_HUMAN	regulatory factor X, 2 (influences HLA class II expression)	293					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						GGTGCATGGGCTGCTGCCGCA	0.612													34	160					0	0	1	0	0	T	6013017	C	T	6013017	2	4	322	1	0	0	0	0	0	0	0	1	13315	796	28	2		2	RFX2	19	6013017	Silent	SNP	C	TCGA-HT-A618-01A-11D-A29Q-08		6013017	53115966	34	30471											
CDH4	1002	broad.mit.edu	37	20	60503304	60503304	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A618-01A-11D-A29Q-08	TCGA-HT-A618-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49fd71af-f8af-43dd-a5d6-caa20d4f82e4	193f9709-5167-4fb6-a1dd-b1c102d01e77	g.chr20:60503304G>A	ENST00000360469.5	+	12	1916	c.1828G>A	c.(1828-1830)Gac>Aac	p.D610N	CDH4_ENST00000543233.1_Missense_Mutation_p.D536N	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	610	Cadherin 4.				adherens junction organization|cell junction assembly		calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			TGACATCAACGACAACGCCCC	0.622													10	286					0	0	1	0	0	A	60503304	G	A	60503304	3	1	322	1	0	0	0	0	1	0	0	0	3134	1058	37	1	1874	1	CDH4	20	60503304	Missense_Mutation	SNP	G	TCGA-HT-A618-01A-11D-A29Q-08		60503304	2522216	35	30472											
ATRX	546	broad.mit.edu	37	X	76939387	76939387	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HT-A618-01A-11D-A29Q-08	TCGA-HT-A618-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49fd71af-f8af-43dd-a5d6-caa20d4f82e4	193f9709-5167-4fb6-a1dd-b1c102d01e77	g.chrX:76939387delT	ENST00000373344.5	-	9	1575	c.1361delA	c.(1360-1362)aagfs	p.K455fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.K417fs	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	455					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)	AATATCCTTCTTTTCCAAAGC	0.343			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						97	98	---	---	---	---						-	76939387	T	-	76939387	7	5	322	1	0	1	0	1	0	0	0	0	1206	1609	56	0	6225	0	ATRX	23	76939387	Frame_Shift_Del	DEL	T	TCGA-HT-A618-01A-11D-A29Q-08		76939387	78331173	36	30473											
ST3GAL3	6487	broad.mit.edu	37	1	44363948	44363948	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr1:44363948C>T	ENST00000262915.3	+	8	823	c.646C>T	c.(646-648)Cgc>Tgc	p.R216C	ST3GAL3_ENST00000461375.1_3'UTR|ST3GAL3_ENST00000372362.2_Intron|ST3GAL3_ENST00000361400.4_Missense_Mutation_p.R131C|ST3GAL3_ENST00000531451.1_Intron|ST3GAL3_ENST00000351035.3_Missense_Mutation_p.R185C|ST3GAL3_ENST00000330208.2_Intron|ST3GAL3_ENST00000372368.2_Missense_Mutation_p.R201C|ST3GAL3_ENST00000545417.1_Intron|ST3GAL3_ENST00000372369.1_Missense_Mutation_p.R147C|ST3GAL3_ENST00000332628.6_Missense_Mutation_p.R116C|ST3GAL3_ENST00000372374.2_Missense_Mutation_p.R116C|ST3GAL3_ENST00000533933.1_Missense_Mutation_p.R147C|ST3GAL3_ENST00000531816.1_Intron|ST3GAL3_ENST00000361392.4_Missense_Mutation_p.R147C|ST3GAL3_ENST00000361812.4_Intron|ST3GAL3_ENST00000372377.4_Intron|ST3GAL3_ENST00000361746.4_Missense_Mutation_p.R216C|ST3GAL3_ENST00000528371.1_Missense_Mutation_p.R131C|ST3GAL3_ENST00000335430.6_Missense_Mutation_p.R131C|ST3GAL3_ENST00000372365.1_Missense_Mutation_p.R147C|ST3GAL3_ENST00000531993.1_Missense_Mutation_p.R131C|ST3GAL3_ENST00000347631.2_Missense_Mutation_p.R162C|ST3GAL3_ENST00000372372.2_Missense_Mutation_p.R185C|ST3GAL3_ENST00000372366.1_Missense_Mutation_p.R146C|ST3GAL3_ENST00000372375.2_Missense_Mutation_p.R201C|ST3GAL3_ENST00000353126.3_Missense_Mutation_p.R147C|ST3GAL3_ENST00000372367.1_Missense_Mutation_p.R146C	NM_174963.3	NP_777623.2	Q11203	SIAT6_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 3	147					protein glycosylation	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	N-acetyllactosaminide alpha-2,3-sialyltransferase activity			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(3)|skin(1)	19	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0518)				CAAAGAGTACCGCCTGACCCC	0.537													48	12					0	0	1	0	0	T	44363948	C	T	44363948	3	4	323	1	0	0	0	0	1	0	0	0	15272	652	23	1	672	1	ST3GAL3	1	44363948	Missense_Mutation	SNP	C	TCGA-HT-A619-01A-11D-A29Q-08		44363948	204886673	1	30474											
CFHR3	10878	broad.mit.edu	37	1	196748322	196748322	+	Missense_Mutation	SNP	A	A	C			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr1:196748322A>C	ENST00000471440.2	+	2	163	c.89A>C	c.(88-90)cAt>cCt	p.H30P	CFHR3_ENST00000367425.4_Missense_Mutation_p.H30P|CFHR3_ENST00000391985.3_Missense_Mutation_p.H30P					complement factor H-related 3											breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	18						GACATTAAACATGGAGGTCTA	0.289													18	35					0	0	1	0	0	C	196748322	A	C	196748322	3	2	323	1	0	0	0	0	1	0	0	0	3308	217	8	4	95	4	CFHR3	1	196748322	Missense_Mutation	SNP	A	TCGA-HT-A619-01A-11D-A29Q-08	152384374	196748322	52502299	2	30475											
SLC4A1AP	22950	broad.mit.edu	37	2	27898498	27898498	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr2:27898498G>A	ENST00000326019.6	+	6	1727	c.1445G>A	c.(1444-1446)cGt>cAt	p.R482H		NM_018158.2	NP_060628.2	Q9BWU0	NADAP_HUMAN	solute carrier family 4 (anion exchanger), member 1, adaptor protein	482						cytoplasm|nucleus	double-stranded RNA binding|protein binding			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(172;0.155)					GAGAAGAAGCGTCTGAACAGA	0.398													52	63					0	0	1	0	0	A	27898498	G	A	27898498	3	1	323	1	0	0	0	0	1	0	0	0	14708	1145	40	1	1467	1	SLC4A1AP	2	27898498	Missense_Mutation	SNP	G	TCGA-HT-A619-01A-11D-A29Q-08		27898498	215300875	3	30476											
HEATR5B	54497	broad.mit.edu	37	2	37268400	37268400	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr2:37268400C>T	ENST00000233099.5	-	19	2827	c.2732G>A	c.(2731-2733)gGt>gAt	p.G911D	HEATR5B_ENST00000354531.2_Missense_Mutation_p.G911D	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	911							binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				CAATGAATGACCAGTCCTAGA	0.388													24	71					0	0	1	0	0	T	37268400	C	T	37268400	3	4	323	1	0	0	0	0	1	0	0	0	7073	507	18	2	3555	2	HEATR5B	2	37268400	Missense_Mutation	SNP	C	TCGA-HT-A619-01A-11D-A29Q-08	9369902	37268400	205930973	4	30477											
REG1B	5968	broad.mit.edu	37	2	79312681	79312681	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr2:79312681A>G	ENST00000305089.3	-	5	450	c.370T>C	c.(370-372)Tgg>Cgg	p.W124R		NM_006507.3	NP_006498.1	P48304	REG1B_HUMAN	regenerating islet-derived 1 beta	124	C-type lectin.				cell proliferation	extracellular region	sugar binding			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(40)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	51						CCAGTGTCCCAGGACTTGTAG	0.542													28	55					0	0	1	0	0	G	79312681	A	G	79312681	3	3	323	1	0	0	0	0	1	0	0	0	13263	188	7	3	138	3	REG1B	2	79312681	Missense_Mutation	SNP	A	TCGA-HT-A619-01A-11D-A29Q-08	42044281	79312681	163886692	5	30478											
CNNM4	26504	broad.mit.edu	37	2	97427110	97427110	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr2:97427110G>A	ENST00000377075.2	+	1	472	c.374G>A	c.(373-375)cGc>cAc	p.R125H		NM_020184.3	NP_064569.3	Q6P4Q7	CNNM4_HUMAN	cyclin M4	125					biomineral tissue development|ion transport|response to stimulus|visual perception	integral to membrane|plasma membrane				breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	20						AACGTGAGCCGCGGGAACACG	0.652													4	149					0	0	1	0	0	A	97427110	G	A	97427110	3	1	323	1	0	0	0	0	1	0	0	0	3638	1087	38	1	376	1	CNNM4	2	97427110	Missense_Mutation	SNP	G	TCGA-HT-A619-01A-11D-A29Q-08	18114429	97427110	145772263	6	30479											
LRP2	4036	broad.mit.edu	37	2	170101367	170101367	+	Missense_Mutation	SNP	C	C	T	rs143115109		TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr2:170101367C>T	ENST00000263816.3	-	22	3551	c.3266G>A	c.(3265-3267)cGc>cAc	p.R1089H	LRP2_ENST00000443831.1_Missense_Mutation_p.R952H	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	1089	LDL-receptor class A 9.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	ACAGTCGTTGCGTTTGTCACA	0.517													77	114					0	0	1	0	0	T	170101367	C	T	170101367	3	4	323	1	0	0	0	0	1	0	0	0	9001	768	27	1	10933	1	LRP2	2	170101367	Missense_Mutation	SNP	C	TCGA-HT-A619-01A-11D-A29Q-08	72674257	170101367	73098006	7	30480											
TTN	7273	broad.mit.edu	37	2	179456396	179456396	+	Silent	SNP	T	T	C			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr2:179456396T>C	ENST00000589042.1	-	303	60374	c.60150A>G	c.(60148-60150)gtA>gtG	p.V20050V	TTN_ENST00000342992.6_Silent_p.V17482V|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000591111.1_Silent_p.V18409V|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342175.6_Silent_p.V11177V|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000359218.5_Silent_p.V11110V|TTN_ENST00000460472.2_Silent_p.V10985V|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590932.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	18409	Fibronectin type-III 45.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTCAGCTTTTACACGGAATC	0.393													4	295					0	0	1	0	0	C	179456396	T	C	179456396	2	2	323	1	0	0	0	0	0	0	0	1	16797	1741	61	3		3	TTN	2	179456396	Silent	SNP	T	TCGA-HT-A619-01A-11D-A29Q-08	9355029	179456396	63742977	8	30481											
NCKAP1	10787	broad.mit.edu	37	2	183843586	183843586	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr2:183843586T>C	ENST00000361354.4	-	14	1771	c.1399A>G	c.(1399-1401)Atg>Gtg	p.M467V	NCKAP1_ENST00000360982.2_Missense_Mutation_p.M473V	NM_013436.3	NP_038464.1	Q9Y2A7	NCKP1_HUMAN	NCK-associated protein 1						apoptosis|central nervous system development	integral to membrane|lamellipodium membrane	protein binding			breast(3)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(11)|lung(16)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			AGGGAAGTCATAGTGTTAACA	0.279													13	21					0	0	1	0	0	C	183843586	T	C	183843586	3	2	323	1	0	0	0	0	1	0	0	0	10268	1406	49	3	2059	3	NCKAP1	2	183843586	Missense_Mutation	SNP	T	TCGA-HT-A619-01A-11D-A29Q-08	4387190	183843586	59355787	9	30482											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								31	41					0	0	1	0	0	T	209113112	C	T	209113112	3	4	323	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HT-A619-01A-11D-A29Q-08	25269526	209113112	34086261	10	30483											
NCL	4691	broad.mit.edu	37	2	232320164	232320164	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr2:232320164delA	ENST00000322723.4	-	13	2244	c.2004delT	c.(2002-2004)ggtfs	p.G669fs		NM_005381.2	NP_005372.2	P19338	NUCL_HUMAN	nucleolin	669	Arg/Gly/Phe-rich.				angiogenesis	cell cortex|nucleolus|ribonucleoprotein complex	nucleotide binding|protein C-terminus binding|RNA binding|telomeric DNA binding			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(3)	35		Ovarian(221;1.34e-05)|Renal(207;0.0112)|Lung NSC(271;0.0339)|all_lung(227;0.0616)|all_hematologic(139;0.0748)|Hepatocellular(293;0.137)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.65e-111)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)|COAD - Colon adenocarcinoma(134;0.141)|STAD - Stomach adenocarcinoma(1183;0.18)		CTCCTCTACCACCACCTCGTC	0.567													8	539	---	---	---	---						-	232320164	A	-	232320164	7	5	323	1	0	1	0	1	0	0	0	0	10273	146	6	0	136	0	NCL	2	232320164	Frame_Shift_Del	DEL	A	TCGA-HT-A619-01A-11D-A29Q-08	23207052	232320164	10879209	11	30484											
EPHA3	2042	broad.mit.edu	37	3	89259601	89259601	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr3:89259601G>A	ENST00000336596.2	+	3	970	c.745G>A	c.(745-747)Gaa>Aaa	p.E249K	EPHA3_ENST00000452448.2_Missense_Mutation_p.E249K|EPHA3_ENST00000494014.1_Missense_Mutation_p.E249K	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	249	Cys-rich.					extracellular region|integral to plasma membrane	ATP binding	p.E249K(1)		NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		TACAGAAGGCGAATGGCTTGT	0.473										TSP Lung(6;0.00050)			133	182					0	0	1	0	0	A	89259601	G	A	89259601	3	1	323	1	0	0	0	0	1	0	0	0	5196	1059	37	1	755	1	EPHA3	3	89259601	Missense_Mutation	SNP	G	TCGA-HT-A619-01A-11D-A29Q-08		89259601	108762829	12	30485											
PVRL3	25945	broad.mit.edu	37	3	110831116	110831116	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr3:110831116A>G	ENST00000485303.1	+	2	675	c.400A>G	c.(400-402)Act>Gct	p.T134A	PVRL3_ENST00000488016.1_3'UTR|PVRL3_ENST00000493615.1_Missense_Mutation_p.T111A|PVRL3_ENST00000319792.3_Missense_Mutation_p.T134A	NM_001243286.1|NM_015480.2	NP_001230215.1|NP_056295.1	Q9NQS3	PVRL3_HUMAN	poliovirus receptor-related 3	134	Ig-like V-type.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane	cell adhesion molecule binding|protein homodimerization activity			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(3)	19						TGCAACAATTACTCTGCATAA	0.393													43	41					0	0	1	0	0	G	110831116	A	G	110831116	3	3	323	1	0	0	0	0	1	0	0	0	12893	391	14	3	406	3	PVRL3	3	110831116	Missense_Mutation	SNP	A	TCGA-HT-A619-01A-11D-A29Q-08	21571515	110831116	87191314	13	30486											
PHLDB2	90102	broad.mit.edu	37	3	111685531	111685531	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr3:111685531C>T	ENST00000431670.2	+	14	3560	c.3149C>T	c.(3148-3150)aCg>aTg	p.T1050M	PHLDB2_ENST00000393923.3_Missense_Mutation_p.T1034M|PHLDB2_ENST00000495180.1_Missense_Mutation_p.T541M|PHLDB2_ENST00000481953.1_Missense_Mutation_p.T1007M|PHLDB2_ENST00000470699.2_3'UTR|PHLDB2_ENST00000393925.3_Missense_Mutation_p.T1050M|PHLDB2_ENST00000412622.1_Missense_Mutation_p.T1007M	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	1050						cytoplasm|intermediate filament cytoskeleton|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						GCAGAAAAGACGCGGCTGCTC	0.478													58	41					0	0	1	0	0	T	111685531	C	T	111685531	3	4	323	1	0	0	0	0	1	0	0	0	11900	536	19	1	3284	1	PHLDB2	3	111685531	Missense_Mutation	SNP	C	TCGA-HT-A619-01A-11D-A29Q-08	854415	111685531	86336899	14	30487											
ZNF148	7707	broad.mit.edu	37	3	124953096	124953096	+	Missense_Mutation	SNP	G	G	C			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr3:124953096G>C	ENST00000360647.4	-	8	1230	c.745C>G	c.(745-747)Cat>Gat	p.H249D	ZNF148_ENST00000544464.1_Intron|ZNF148_ENST00000485866.1_Missense_Mutation_p.H249D|SLC12A8_ENST00000423114.2_Intron|ZNF148_ENST00000468369.1_Intron|ZNF148_ENST00000484491.1_Missense_Mutation_p.H249D|ZNF148_ENST00000492394.1_Missense_Mutation_p.H249D|ZNF148_ENST00000497929.1_5'UTR	NM_021964.2	NP_068799.2	Q9UQR1	ZN148_HUMAN	zinc finger protein 148	249					cellular defense response|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|zinc ion binding			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)	28						TCTCCACTATGAGTTCTCTTA	0.303													31	42					0	0	1	0	0	C	124953096	G	C	124953096	3	2	323	1	0	0	0	0	1	0	0	0	17792	1290	45	5	1647	5	ZNF148	3	124953096	Missense_Mutation	SNP	G	TCGA-HT-A619-01A-11D-A29Q-08	13267565	124953096	73069334	15	30488											
CCDC109B	55013	broad.mit.edu	37	4	110581405	110581405	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr4:110581405C>G	ENST00000394650.4	+	3	363	c.230C>G	c.(229-231)tCt>tGt	p.S77C	CCDC109B_ENST00000515114.1_3'UTR	NM_017918.4	NP_060388.2	Q9NWR8	C109B_HUMAN	coiled-coil domain containing 109B	77						integral to membrane				breast(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(1)	9				OV - Ovarian serous cystadenocarcinoma(123;6.65e-06)		ACCTTGCCATCTAGAAAAGAA	0.328													12	8					0	0	1	0	0	G	110581405	C	G	110581405	3	3	323	1	0	0	0	0	1	0	0	0	2763	913	32	4	240	4	CCDC109B	4	110581405	Missense_Mutation	SNP	C	TCGA-HT-A619-01A-11D-A29Q-08		110581405	80572871	16	30489											
EGF	1950	broad.mit.edu	37	4	110884445	110884445	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr4:110884445G>A	ENST00000265171.5	+	9	1874	c.1429G>A	c.(1429-1431)Gca>Aca	p.A477T	EGF_ENST00000503392.1_Missense_Mutation_p.A477T|EGF_ENST00000509793.1_Missense_Mutation_p.A435T	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN	epidermal growth factor	477	EGF-like 4.				angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity			breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sulindac(DB00605)	AAAAAGCTGTGCAGCTTCAGG	0.423													62	94					0	0	1	0	0	A	110884445	G	A	110884445	3	1	323	1	0	0	0	0	1	0	0	0	4988	1319	46	2	1463	2	EGF	4	110884445	Missense_Mutation	SNP	G	TCGA-HT-A619-01A-11D-A29Q-08	303040	110884445	80269831	17	30490											
DCHS2	54798	broad.mit.edu	37	4	155287390	155287390	+	Silent	SNP	C	C	T	rs78251264	byFrequency	TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr4:155287390C>T	ENST00000357232.4	-	5	665	c.666G>A	c.(664-666)tcG>tcA	p.S222S	DCHS2_ENST00000339452.1_Silent_p.S816S	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2		Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		TAAAAAGGGACGACACGTTTC	0.448													20	38					0	0	1	0	0	T	155287390	C	T	155287390	2	4	323	1	0	0	0	0	0	0	0	1	4311	523	19	1		1	DCHS2	4	155287390	Silent	SNP	C	TCGA-HT-A619-01A-11D-A29Q-08	44402945	155287390	35866886	18	30491											
CEP72	55722	broad.mit.edu	37	5	620335	620335	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr5:620335G>A	ENST00000264935.5	+	3	452	c.362G>A	c.(361-363)cGc>cAc	p.R121H	CEP72_ENST00000444221.1_Missense_Mutation_p.R121H	NM_018140.3	NP_060610.2	Q9P209	CEP72_HUMAN	centrosomal protein 72kDa	121	LRRCT.				G2/M transition of mitotic cell cycle|gamma-tubulin complex localization|spindle organization	centrosome|cytosol				autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(5)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	20			Epithelial(17;0.000339)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|Lung(60;0.0863)			CCTGACTACCGCCTTTTTGTT	0.602													48	77					0	0	1	0	0	A	620335	G	A	620335	3	1	323	1	0	0	0	0	1	0	0	0	3282	1087	38	1	372	1	CEP72	5	620335	Missense_Mutation	SNP	G	TCGA-HT-A619-01A-11D-A29Q-08		620335	180294925	19	30492											
SLC6A19	340024	broad.mit.edu	37	5	1219196	1219196	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr5:1219196C>T	ENST00000304460.10	+	9	1408	c.1352C>T	c.(1351-1353)cCg>cTg	p.P451L		NM_001003841.2	NP_001003841.1	Q695T7	S6A19_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 19	451					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			GTCATCCCCCCGAAGTGGCCC	0.607													3	38					0	0	1	0	0	T	1219196	C	T	1219196	3	4	323	1	0	0	0	0	1	0	0	0	14737	652	23	1	1386	1	SLC6A19	5	1219196	Missense_Mutation	SNP	C	TCGA-HT-A619-01A-11D-A29Q-08	598861	1219196	179696064	20	30493											
MYO10	4651	broad.mit.edu	37	5	16689996	16689996	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr5:16689996C>T	ENST00000513610.1	-	28	4287	c.3833G>A	c.(3832-3834)gGg>gAg	p.G1278E	MYO10_ENST00000515803.1_Missense_Mutation_p.G617E|MYO10_ENST00000505695.1_Missense_Mutation_p.G617E|MYO10_ENST00000274203.9_Missense_Mutation_p.G635E|MYO10_ENST00000427430.2_Missense_Mutation_p.G635E	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	1278	PH 1.				axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						GATGTCGATCCCATTCTCCTT	0.463													11	49					0	0	1	0	0	T	16689996	C	T	16689996	3	4	323	1	0	0	0	0	1	0	0	0	10110	623	22	2	2399	2	MYO10	5	16689996	Missense_Mutation	SNP	C	TCGA-HT-A619-01A-11D-A29Q-08	15470800	16689996	164225264	21	30494											
NIPBL	25836	broad.mit.edu	37	5	36985704	36985704	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr5:36985704C>T	ENST00000282516.8	+	10	2921	c.2422C>T	c.(2422-2424)Cga>Tga	p.R808*	NIPBL_ENST00000504430.1_3'UTR|NIPBL_ENST00000448238.2_Nonsense_Mutation_p.R808*	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	808					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			ACCTGATGGGCGATCTGTTTC	0.428													32	45					0	0	1	0	0	T	36985704	C	T	36985704	4	4	323	1	0	0	0	0	0	1	0	0	10475	760	27	1	2456	1	NIPBL	5	36985704	Nonsense_Mutation	SNP	C	TCGA-HT-A619-01A-11D-A29Q-08	20295708	36985704	143929556	22	30495											
MAP1B	4131	broad.mit.edu	37	5	71495073	71495073	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr5:71495073C>G	ENST00000296755.7	+	5	6189	c.5891C>G	c.(5890-5892)aCc>aGc	p.T1964S		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1964						microtubule|microtubule associated complex	structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		GAAAAGACCACCAGCCCCCCC	0.473													6	83					0	0	1	0	0	G	71495073	C	G	71495073	3	3	323	1	0	0	0	0	1	0	0	0	9278	507	18	5	5909	5	MAP1B	5	71495073	Missense_Mutation	SNP	C	TCGA-HT-A619-01A-11D-A29Q-08	34509369	71495073	109420187	23	30496											
PCDHA2	56146	broad.mit.edu	37	5	140176038	140176038	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr5:140176038C>T	ENST00000526136.1	+	1	1489	c.1489C>T	c.(1489-1491)Cgg>Tgg	p.R497W	PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000378132.1_Missense_Mutation_p.R497W|PCDHA2_ENST00000520672.2_Missense_Mutation_p.R497W	NM_018905.2	NP_061728.1														NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTGGTGGAGCGGCGGGTGGG	0.672													6	148					0	0	1	0	0	T	140176038	C	T	140176038	3	4	323	1	0	0	0	0	1	0	0	0	11571	759	27	1	1491	1	PCDHA2	5	140176038	Missense_Mutation	SNP	C	TCGA-HT-A619-01A-11D-A29Q-08	68680965	140176038	40739222	24	30497											
PCDHA3	56145	broad.mit.edu	37	5	140182696	140182696	+	Silent	SNP	C	C	T			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr5:140182696C>T	ENST00000522353.2	+	1	1914	c.1914C>T	c.(1912-1914)gaC>gaT	p.D638D	PCDHA3_ENST00000532566.2_Silent_p.D638D|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000520672.2_Intron	NM_018906.2	NP_061729.1														NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGCCCTGGACGAGGTGGACG	0.667													11	143					0	0	1	0	0	T	140182696	C	T	140182696	2	4	323	1	0	0	0	0	0	0	0	1	11572	535	19	1		1	PCDHA3	5	140182696	Silent	SNP	C	TCGA-HT-A619-01A-11D-A29Q-08	6658	140182696	40732564	25	30498											
SPRY4	81848	broad.mit.edu	37	5	141693969	141693969	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr5:141693969C>T	ENST00000344120.4	-	3	960	c.774G>A	c.(772-774)tgG>tgA	p.W258*	SPRY4_ENST00000434127.2_Nonsense_Mutation_p.W235*	NM_030964.3	NP_112226.2	Q9C004	SPY4_HUMAN	sprouty homolog 4 (Drosophila)	235	Cys-rich.|SPR.				multicellular organismal development	cytoplasm|ruffle membrane	protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(7)|ovary(1)	18		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCATGAAGGACCAGCGGGCGC	0.662									Testicular Cancer, Familial Clustering of				29	28					0	0	1	0	0	T	141693969	C	T	141693969	4	4	323	1	0	0	0	0	0	1	0	0	15164	508	18	2	198	2	SPRY4	5	141693969	Nonsense_Mutation	SNP	C	TCGA-HT-A619-01A-11D-A29Q-08	1511273	141693969	39221291	26	30499											
ABCB5	340273	broad.mit.edu	37	7	20767947	20767947	+	Silent	SNP	G	G	A			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr7:20767947G>A	ENST00000404938.2	+	23	3388	c.2736G>A	c.(2734-2736)tcG>tcA	p.S912S	ABCB5_ENST00000258738.6_Silent_p.S467S	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	467					regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						GAAATACCTCGAAGAAAGCAC	0.353													52	145					0	0	1	0	0	A	20767947	G	A	20767947	2	1	323	1	0	0	0	0	0	0	0	1	44	1045	37	1		1	ABCB5	7	20767947	Silent	SNP	G	TCGA-HT-A619-01A-11D-A29Q-08		20767947	138370716	27	30500											
DNAH11	8701	broad.mit.edu	37	7	21721268	21721268	+	Silent	SNP	C	C	T			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr7:21721268C>T	ENST00000328843.6	+	31	5479	c.5448C>T	c.(5446-5448)gaC>gaT	p.D1816D	DNAH11_ENST00000409508.3_Silent_p.D1811D			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1816	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						ATGCCAGAGACGTGGTGGCAA	0.398									Kartagener syndrome				4	121					0	0	1	0	0	T	21721268	C	T	21721268	2	4	323	1	0	0	0	0	0	0	0	1	4627	535	19	1		1	DNAH11	7	21721268	Silent	SNP	C	TCGA-HT-A619-01A-11D-A29Q-08	953321	21721268	137417395	28	30501											
FBXL13	222235	broad.mit.edu	37	7	102453840	102453840	+	Missense_Mutation	SNP	T	T	G	rs141623741		TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr7:102453840T>G	ENST00000393772.2	-	19	2499	c.2073A>C	c.(2071-2073)ttA>ttC	p.L691F	FBXL13_ENST00000313221.4_Missense_Mutation_p.L719F|FBXL13_ENST00000456695.1_Missense_Mutation_p.L437F|FBXL13_ENST00000455112.2_Missense_Mutation_p.L674F|FBXL13_ENST00000379308.3_Missense_Mutation_p.L674F|FBXL13_ENST00000379305.3_Missense_Mutation_p.L691F|FBXL13_ENST00000379306.3_Missense_Mutation_p.L437F|FBXL13_ENST00000436908.1_Missense_Mutation_p.L719F			Q8NEE6	FXL13_HUMAN	F-box and leucine-rich repeat protein 13	719										NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|skin(3)|stomach(1)	27						CTGTTAATTCTAAGGCTCCTT	0.418													44	98					0	0	1	0	0	G	102453840	T	G	102453840	3	3	323	1	0	0	0	0	1	0	0	0	5742	1519	53	5	54	5	FBXL13	7	102453840	Missense_Mutation	SNP	T	TCGA-HT-A619-01A-11D-A29Q-08	80732572	102453840	56684823	29	30502											
WNT16	51384	broad.mit.edu	37	7	120969426	120969426	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr7:120969426delC	ENST00000222462.2	+	1	370	c.80delC	c.(79-81)gccfs	p.A27fs	WNT16_ENST00000361301.2_Intron	NM_057168.1	NP_476509.1	Q9UBV4	WNT16_HUMAN	wingless-type MMTV integration site family, member 16	27					anterior/posterior pattern formation|axis specification|axonogenesis|canonical Wnt receptor signaling pathway|keratinocyte differentiation|keratinocyte proliferation|negative regulation of cell death|optic cup formation involved in camera-type eye development|oxidative stress-induced premature senescence|positive regulation of gene expression|positive regulation of JNK cascade|positive regulation of phosphatidylinositol 3-kinase cascade|replicative senescence|Wnt receptor signaling pathway, calcium modulating pathway	cytoplasm|extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled binding|signal transducer activity			breast(1)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)	18	all_neural(327;0.117)					CCCTACGGAGCCCAAGGAAAC	0.647													33	25	---	---	---	---						-	120969426	C	-	120969426	7	5	323	1	0	1	0	1	0	0	0	0	17445	739	26	0	151	0	WNT16	7	120969426	Frame_Shift_Del	DEL	C	TCGA-HT-A619-01A-11D-A29Q-08	18515586	120969426	38169237	30	30503											
ASB15	142685	broad.mit.edu	37	7	123269087	123269088	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr7:123269087_123269088delGA	ENST00000451558.1	+	12	1560_1561	c.1039_1040delGA	c.(1039-1041)gacfs	p.D348fs	ASB15_ENST00000275699.3_Frame_Shift_Del_p.D348fs|ASB15_ENST00000434204.1_Frame_Shift_Del_p.D348fs|ASB15_ENST00000540573.1_Frame_Shift_Del_p.D348fs|ASB15_ENST00000451215.1_Frame_Shift_Del_p.D348fs			Q8WXK1	ASB15_HUMAN	ankyrin repeat and SOCS box containing 15	348					intracellular signal transduction					breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3)	12						CCAGAGCTATGACGATGAGAGG	0.455													55	162	---	---	---	---						-	123269088	GA	-	123269087	7	5	323	1	0	1	0	1	0	0	0	0	1018	1290	45	0	1065	0	ASB15	7	123269087	Frame_Shift_Del	DEL	GA	TCGA-HT-A619-01A-11D-A29Q-08	2299661	123269087	35869576	31	30504											
EPHB6	2051	broad.mit.edu	37	7	142561054	142561054	+	Silent	SNP	G	G	T			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr7:142561054G>T	ENST00000392957.2	+	5	856	c.69G>T	c.(67-69)ctG>ctT	p.L23L	EPHB6_ENST00000411471.2_Intron|EPHB6_ENST00000442129.1_Silent_p.L23L	NM_004445.3	NP_004436.3	O15197	EPHB6_HUMAN	EPH receptor B6	23						extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					TATGGGTGCTGCTCCTGGTGT	0.587													9	95					0.000274275	0.00028058	1	1	0	T	142561054	G	T	142561054	2	4	323	1	0	0	0	0	0	0	0	1	5206	1306	46	5		5	EPHB6	7	142561054	Silent	SNP	G	TCGA-HT-A619-01A-11D-A29Q-08	19291967	142561054	16577609	32	30505											
SSPO	23145	broad.mit.edu	37	7	149516518	149516518	+	RNA	SNP	G	G	A			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr7:149516518G>A	ENST00000378016.2	+	0	11921							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CGGGCATACCGTCCCCCTGGG	0.711													8	47					0	0	1	0	0	A	149516518	G	A	149516518	1	1	323	0	1	0	0	0	0	0	0	0	15245	1145	40	1		1	SSPO	7	149516518	RNA	SNP	G	TCGA-HT-A619-01A-11D-A29Q-08	6955464	149516518	9622145	33	30506											
ADAM28	10863	broad.mit.edu	37	8	24187513	24187513	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr8:24187513C>T	ENST00000265769.4	+	11	1098	c.988C>T	c.(988-990)Ctt>Ttt	p.L330F	ADAM28_ENST00000540823.1_Missense_Mutation_p.L97F|RP11-624C23.1_ENST00000523700.1_RNA|ADAM28_ENST00000397649.3_Missense_Mutation_p.L77F|RP11-624C23.1_ENST00000518988.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA|ADAM28_ENST00000437154.2_Missense_Mutation_p.L330F|ADAM28_ENST00000518516.1_3'UTR	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28	330	Peptidase M12B.				proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		CAGCGATAATCTTCTTAGAGT	0.388													7	128					0	0	1	0	0	T	24187513	C	T	24187513	3	4	323	1	0	0	0	0	1	0	0	0	245	913	32	2	1030	2	ADAM28	8	24187513	Missense_Mutation	SNP	C	TCGA-HT-A619-01A-11D-A29Q-08		24187513	122176509	34	30507											
PPP2R2A	5520	broad.mit.edu	37	8	26227744	26227761	+	In_Frame_Del	DEL	AAGCCTCGCACAGTTCTG	AAGCCTCGCACAGTTCTG	-			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr8:26227744_26227761delAAGCCTCGCACAGTTCTG	ENST00000380737.3	+	10	1488_1505	c.1159_1176delAAGCCTCGCACAGTTCTG	c.(1159-1176)aagcctcgcacagttctgdel	p.KPRTVL387del	PPP2R2A_ENST00000315985.7_In_Frame_Del_p.KPRTVL397del	NM_002717.3	NP_002708.1			protein phosphatase 2, regulatory subunit B, alpha									p.R389H(1)|p.R389R(1)		kidney(1)|large_intestine(2)|ovary(1)	4		all_cancers(63;0.086)|Ovarian(32;2.61e-05)|all_epithelial(46;0.0514)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.000754)|Epithelial(17;3.02e-15)|all cancers(2;1.52e-13)|OV - Ovarian serous cystadenocarcinoma(2;1.89e-10)|Colorectal(74;0.155)		GGAAAACAATAAGCCTCGCACAGTTCTGAAGCCTCGCA	0.431													18	37	---	---	---	---						-	26227761	AAGCCTCGCACAGTTCTG	-	26227744	7	5	323	1	0	1	0	1	0	0	0	0	12433	363	13	0	1238	0	PPP2R2A	8	26227744	In_Frame_Del	DEL	AAGCCTCGCACAGTTCTG	TCGA-HT-A619-01A-11D-A29Q-08	2040231	26227744	120136278	35	30508											
PXDNL	137902	broad.mit.edu	37	8	52233389	52233389	+	Silent	SNP	G	G	A			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr8:52233389G>A	ENST00000356297.4	-	22	4315	c.4215C>T	c.(4213-4215)gcC>gcT	p.A1405A	PXDNL_ENST00000543296.1_3'UTR|RP11-401H2.1_ENST00000521294.1_RNA	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	1405	VWFC.				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				AGCGCTCCTCGGCCTTCCTTG	0.527													115	115					0	0	1	0	0	A	52233389	G	A	52233389	2	1	323	1	0	0	0	0	0	0	0	1	12900	1103	39	1		1	PXDNL	8	52233389	Silent	SNP	G	TCGA-HT-A619-01A-11D-A29Q-08	26005645	52233389	94130633	36	30509											
ARHGAP39	80728	broad.mit.edu	37	8	145773361	145773361	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr8:145773361T>C	ENST00000276826.5	-	4	1310	c.1109A>G	c.(1108-1110)cAg>cGg	p.Q370R	ARHGAP39_ENST00000540274.1_Missense_Mutation_p.Q370R|ARHGAP39_ENST00000377307.2_Missense_Mutation_p.Q370R			Q9C0H5	RHG39_HUMAN	Rho GTPase activating protein 39	370					axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|nucleus	GTPase activator activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						GAGCACCAGCTGCTGGCAGGG	0.706													13	15					0	0	1	0	0	C	145773361	T	C	145773361	3	2	323	1	0	0	0	0	1	0	0	0	881	1580	55	3	2267	3	ARHGAP39	8	145773361	Missense_Mutation	SNP	T	TCGA-HT-A619-01A-11D-A29Q-08	93539972	145773361	590661	37	30510											
RGS3	5998	broad.mit.edu	37	9	116356592	116356592	+	Silent	SNP	C	C	T			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr9:116356592C>T	ENST00000462403.1	+	1	827	c.393C>T	c.(391-393)aaC>aaT	p.N131N	RGS3_ENST00000342620.5_Intron|RGS3_ENST00000394646.3_Intron|RGS3_ENST00000343817.5_Intron|RGS3_ENST00000374140.2_Intron|RGS3_ENST00000350696.5_Intron|RGS3_ENST00000462143.1_Intron|RGS3_ENST00000374134.3_Intron	NM_144489.2	NP_652760.2	P49796	RGS3_HUMAN	regulator of G-protein signaling 3	0					inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	cytosol|nucleus|plasma membrane	GTPase activator activity|signal transducer activity			cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						GCAACGGGAACCTGCAGAGGC	0.622													76	97					0	0	1	0	0	T	116356592	C	T	116356592	2	4	323	1	0	0	0	0	0	0	0	1	13356	506	18	2		2	RGS3	9	116356592	Silent	SNP	C	TCGA-HT-A619-01A-11D-A29Q-08		116356592	24856839	38	30511											
OLFML2A	169611	broad.mit.edu	37	9	127572206	127572206	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr9:127572206C>T	ENST00000373580.3	+	8	1474	c.1474C>T	c.(1474-1476)Cgg>Tgg	p.R492W	OLFML2A_ENST00000288815.5_Missense_Mutation_p.R278W	NM_182487.2	NP_872293.2	Q68BL7	OLM2A_HUMAN	olfactomedin-like 2A	492	Olfactomedin-like.									endometrium(5)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	25						GTACGACCTACGGCAGCGCTT	0.592													60	90					0	0	1	0	0	T	127572206	C	T	127572206	3	4	323	1	0	0	0	0	1	0	0	0	10905	527	19	1	1504	1	OLFML2A	9	127572206	Missense_Mutation	SNP	C	TCGA-HT-A619-01A-11D-A29Q-08	11215614	127572206	13641225	39	30512											
GTF3C4	9329	broad.mit.edu	37	9	135546108	135546108	+	Silent	SNP	G	G	T			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr9:135546108G>T	ENST00000372146.4	+	1	687	c.123G>T	c.(121-123)ccG>ccT	p.P41P	GTF3C4_ENST00000483873.2_Silent_p.P41P	NM_012204.2	NP_036336.2	Q9UKN8	TF3C4_HUMAN	general transcription factor IIIC, polypeptide 4, 90kDa	41					transcription initiation from RNA polymerase III promoter	transcription factor TFIIIC complex	DNA binding|enzyme activator activity|histone acetyltransferase activity|protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;8.15e-07)|Epithelial(140;2.6e-05)		ACGCGGCCCCGGGGCCCAGCG	0.761													3	0					0.150653	0.150653	1	1	0	T	135546108	G	T	135546108	2	4	323	1	0	0	0	0	0	0	0	1	6916	1103	39	5		5	GTF3C4	9	135546108	Silent	SNP	G	TCGA-HT-A619-01A-11D-A29Q-08	7973902	135546108	5667323	40	30513	136	2									
GTF3C4	9329	broad.mit.edu	37	9	135546109	135546109	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr9:135546109G>A	ENST00000372146.4	+	1	688	c.124G>A	c.(124-126)Ggg>Agg	p.G42R	GTF3C4_ENST00000483873.2_Missense_Mutation_p.G42R	NM_012204.2	NP_036336.2	Q9UKN8	TF3C4_HUMAN	general transcription factor IIIC, polypeptide 4, 90kDa	42					transcription initiation from RNA polymerase III promoter	transcription factor TFIIIC complex	DNA binding|enzyme activator activity|histone acetyltransferase activity|protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;8.15e-07)|Epithelial(140;2.6e-05)		CGCGGCCCCGGGGCCCAGCGC	0.756													3	0					0	0	1	0	0	A	135546109	G	A	135546109	3	1	323	1	0	0	0	0	1	0	0	0	6916	1232	43	2	126	2	GTF3C4	9	135546109	Missense_Mutation	SNP	G	TCGA-HT-A619-01A-11D-A29Q-08	1	135546109	5667322	41	30514	136	2									
DBH	1621	broad.mit.edu	37	9	136507441	136507441	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr9:136507441C>G	ENST00000393056.2	+	3	611	c.599C>G	c.(598-600)cCc>cGc	p.P200R		NM_000787.3	NP_000778.3	P09172	DOPO_HUMAN	dopamine beta-hydroxylase (dopamine beta-monooxygenase)	200					hormone biosynthetic process	chromaffin granule lumen|chromaffin granule membrane|extracellular region|integral to membrane|membrane fraction|soluble fraction|transport vesicle membrane	dopamine beta-monooxygenase activity|L-ascorbic acid binding			central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	36				OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	Dopamine(DB00988)|Vitamin C(DB00126)	CTCCTGAAGCCCAATATCCCC	0.622													26	47					0	0	1	0	0	G	136507441	C	G	136507441	3	3	323	1	0	0	0	0	1	0	0	0	4274	623	22	5	609	5	DBH	9	136507441	Missense_Mutation	SNP	C	TCGA-HT-A619-01A-11D-A29Q-08	961332	136507441	4705990	42	30515											
CELF2	10659	broad.mit.edu	37	10	11363187	11363187	+	Missense_Mutation	SNP	G	G	C			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr10:11363187G>C	ENST00000379261.4	+	11	1185	c.1093G>C	c.(1093-1095)Gga>Cga	p.G365R	CELF2_ENST00000354440.2_Missense_Mutation_p.G347R|CELF2_ENST00000417956.2_Missense_Mutation_p.G345R|CELF2_ENST00000537122.1_Missense_Mutation_p.G260R|CELF2_ENST00000608830.1_Missense_Mutation_p.G345R|CELF2_ENST00000609692.1_Missense_Mutation_p.G345R|CELF2_ENST00000399850.3_Missense_Mutation_p.G347R|CELF2_ENST00000416382.2_Missense_Mutation_p.G365R|CELF2_ENST00000354897.3_Missense_Mutation_p.G359R|CELF2_ENST00000427450.1_Missense_Mutation_p.G347R|CELF2_ENST00000450189.1_Missense_Mutation_p.G378R|CELF2_ENST00000542579.1_Missense_Mutation_p.G378R|CELF2_ENST00000315874.4_Missense_Mutation_p.G347R	NM_001025077.2	NP_001020248.1	O95319	CELF2_HUMAN	CUGBP, Elav-like family member 2	365	Ala-rich.|Necessary for RNA-binding, TNNT2 exon 5 and NMDA R1 exon 21 inclusion.				mRNA processing|regulation of heart contraction	cytoplasm|nucleus	nucleotide binding|protein binding|RNA binding			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	16						GGCTCTGAATGGAGGACTTGG	0.517													35	68					0	0	1	0	0	C	11363187	G	C	11363187	3	2	323	1	0	0	0	0	1	0	0	0	3238	1349	47	5	1243	5	CELF2	10	11363187	Missense_Mutation	SNP	G	TCGA-HT-A619-01A-11D-A29Q-08		11363187	124171560	43	30516											
MUC2	4583	broad.mit.edu	37	11	1083749	1083749	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr11:1083749G>A	ENST00000441003.2	+	18	2308	c.2281G>A	c.(2281-2283)Gcc>Acc	p.A761T	MUC2_ENST00000359061.5_Missense_Mutation_p.A761T	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	761						inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	AGGCTGCACGGCCCCAAAGAT	0.701													12	26					0	0	1	0	0	A	1083749	G	A	1083749	3	1	323	1	0	0	0	0	1	0	0	0	10023	1203	42	2	2351	2	MUC2	11	1083749	Missense_Mutation	SNP	G	TCGA-HT-A619-01A-11D-A29Q-08		1083749	133922767	44	30517											
TSPAN32	10077	broad.mit.edu	37	11	2337873	2337874	+	Frame_Shift_Ins	INS	-	-	G			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr11:2337873_2337874insG	ENST00000182290.4	+	8	832_833	c.695_696insG	c.(694-699)aagggcfs	p.KG232fs	TSPAN32_ENST00000451520.2_Frame_Shift_Ins_p.KG221fs|TSPAN32_ENST00000381121.3_Frame_Shift_Ins_p.KG232fs	NM_139022.2	NP_620591.3	Q96QS1	TSN32_HUMAN	tetraspanin 32	232					cell-cell signaling	integral to membrane				breast(1)|central_nervous_system(1)|lung(4)|ovary(1)|skin(1)	8		all_epithelial(84;4.89e-05)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.00791)|Lung NSC(207;0.209)		BRCA - Breast invasive adenocarcinoma(625;0.000533)|LUSC - Lung squamous cell carcinoma(625;0.082)|Lung(200;0.153)		TTGGACCGCAAGGGCAAATACA	0.658													75	78	---	---	---	---						G	2337874	-	G	2337873	7	5	323	1	0	1	1	0	0	0	0	0	16708	72	3	0	725	0	TSPAN32	11	2337873	Frame_Shift_Ins	INS	-	TCGA-HT-A619-01A-11D-A29Q-08	1254124	2337873	132668643	45	30518											
AHNAK	79026	broad.mit.edu	37	11	62289071	62289071	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr11:62289071C>G	ENST00000378024.4	-	5	13092	c.12818G>C	c.(12817-12819)gGt>gCt	p.G4273A	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	4273					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				ATCCACATCACCCTTCACCTT	0.493													7	346					0	0	1	0	0	G	62289071	C	G	62289071	3	3	323	1	0	0	0	0	1	0	0	0	411	507	18	5	4974	5	AHNAK	11	62289071	Missense_Mutation	SNP	C	TCGA-HT-A619-01A-11D-A29Q-08	59951198	62289071	72717445	46	30519											
SLCO2B1	11309	broad.mit.edu	37	11	74904334	74904335	+	Frame_Shift_Ins	INS	-	-	TG			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr11:74904334_74904335insTG	ENST00000289575.5	+	9	1542_1543	c.1147_1148insTG	c.(1147-1149)ttgfs	p.L383fs	SLCO2B1_ENST00000532236.1_Frame_Shift_Ins_p.L267fs|SLCO2B1_ENST00000341411.4_Frame_Shift_Ins_p.L156fs|SLCO2B1_ENST00000525650.1_Frame_Shift_Ins_p.L239fs|SLCO2B1_ENST00000454962.2_Frame_Shift_Ins_p.L156fs|SLCO2B1_ENST00000531756.1_Frame_Shift_Ins_p.L128fs|SLCO2B1_ENST00000428359.2_Frame_Shift_Ins_p.L361fs	NM_007256.4	NP_009187	O94956	SO2B1_HUMAN	solute carrier organic anion transporter family, member 2B1	383					sodium-independent organic anion transport	integral to membrane	sodium-independent organic anion transmembrane transporter activity			breast(2)|endometrium(1)|large_intestine(7)|lung(20)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	39					Ergoloid mesylate(DB01049)	CCAGGTATGCTTGTCATCCATG	0.624													71	91	---	---	---	---						TG	74904335	-	TG	74904334	7	5	323	1	0	1	1	0	0	0	0	0	14782	1606	56	0	1181	0	SLCO2B1	11	74904334	Frame_Shift_Ins	INS	-	TCGA-HT-A619-01A-11D-A29Q-08	12615263	74904334	60102182	47	30520											
MMP12	4321	broad.mit.edu	37	11	102745470	102745473	+	RNA	DEL	CAAA	CAAA	-	rs28360358		TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr11:102745470_102745473delCAAA	ENST00000532855.1	-	0	199							P39900	MMP12_HUMAN	matrix metallopeptidase 12 (macrophage elastase)						positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.014)	Acetohydroxamic Acid(DB00551)	TACGTAAaagcaaacaaacaaaca	0.324													5	6	---	---	---	---						-	102745473	CAAA	-	102745470	6	5	323	0	1	1	0	1	0	0	0	0	9699	725	25	0		0	MMP12	11	102745470	RNA	DEL	CAAA	TCGA-HT-A619-01A-11D-A29Q-08	27841136	102745470	32261046	48	30521											
PRPF40B	25766	broad.mit.edu	37	12	50037528	50037528	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr12:50037528A>G	ENST00000261897.1	+	23	2884	c.2333A>G	c.(2332-2334)cAc>cGc	p.H778R	PRPF40B_ENST00000548825.2_Missense_Mutation_p.H812R|PRPF40B_ENST00000380281.1_Missense_Mutation_p.H791R|FMNL3_ENST00000335154.5_3'UTR			Q6NWY9	PR40B_HUMAN	PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae)	791					mRNA processing|RNA splicing	nuclear speck		p.H791R(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34						AAGAGAAGACACAAGTCGGTG	0.463													27	22					0	0	1	0	0	G	50037528	A	G	50037528	3	3	323	1	0	0	0	0	1	0	0	0	12624	159	6	3	2462	3	PRPF40B	12	50037528	Missense_Mutation	SNP	A	TCGA-HT-A619-01A-11D-A29Q-08		50037528	83814367	49	30522											
CIT	11113	broad.mit.edu	37	12	120151065	120151065	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr12:120151065T>C	ENST00000392521.2	-	35	4577	c.4522A>G	c.(4522-4524)Aag>Gag	p.K1508E	CIT_ENST00000261833.7_Missense_Mutation_p.K1466E|CIT_ENST00000537607.1_5'UTR	NM_001206999.1	NP_001193928.1	O14578	CTRO_HUMAN	citron (rho-interacting, serine/threonine kinase 21)	1466	PH.				intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		ACAATGTACTTCCTGTCCCAG	0.443													131	154					0	0	1	0	0	C	120151065	T	C	120151065	3	2	323	1	0	0	0	0	1	0	0	0	3461	1792	62	3	1743	3	CIT	12	120151065	Missense_Mutation	SNP	T	TCGA-HT-A619-01A-11D-A29Q-08	70113537	120151065	13700830	50	30523											
WASF3	10810	broad.mit.edu	37	13	27239244	27239244	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr13:27239244C>G	ENST00000361042.4	+	4	438	c.213C>G	c.(211-213)gaC>gaG	p.D71E	WASF3_ENST00000335327.5_Missense_Mutation_p.D71E|WASF3_ENST00000496788.1_3'UTR			Q9UPY6	WASF3_HUMAN	WAS protein family, member 3	71					actin filament polymerization	cytoplasm|cytoskeleton	actin binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|skin(2)	22	Colorectal(5;0.000247)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155)		CTCTTCAAGACAGAATTGATC	0.408													15	42					0	0	1	0	0	G	27239244	C	G	27239244	3	3	323	1	0	0	0	0	1	0	0	0	17314	477	17	5	219	5	WASF3	13	27239244	Missense_Mutation	SNP	C	TCGA-HT-A619-01A-11D-A29Q-08		27239244	87930634	51	30524											
OLFM4	10562	broad.mit.edu	37	13	53624246	53624246	+	Silent	SNP	G	G	A	rs147184057		TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr13:53624246G>A	ENST00000219022.2	+	5	951	c.873G>A	c.(871-873)gcG>gcA	p.A291A		NM_006418.4	NP_006409.3	Q6UX06	OLFM4_HUMAN	olfactomedin 4	291	Olfactomedin-like.				cell adhesion	extracellular space				breast(2)|endometrium(4)|kidney(4)|large_intestine(5)|lung(20)|skin(3)|urinary_tract(1)	39		Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.13e-08)		ATTGGGTGGCGCCATTGAATA	0.448													49	61					0	0	1	0	0	A	53624246	G	A	53624246	2	1	323	1	0	0	0	0	0	0	0	1	10903	1074	38	1		1	OLFM4	13	53624246	Silent	SNP	G	TCGA-HT-A619-01A-11D-A29Q-08	26385002	53624246	61545632	52	30525											
UGGT2	55757	broad.mit.edu	37	13	96592232	96592232	+	Silent	SNP	A	A	G			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr13:96592232A>G	ENST00000376747.3	-	16	1861	c.1791T>C	c.(1789-1791)tcT>tcC	p.S597S		NM_020121.3	NP_064506.3	Q9NYU1	UGGG2_HUMAN	UDP-glucose glycoprotein glucosyltransferase 2	597					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2)	60						CATCATATTTAGAATGAATTC	0.358													14	28					0	0	1	0	0	G	96592232	A	G	96592232	2	3	323	1	0	0	0	0	0	0	0	1	17002	407	15	3		3	UGGT2	13	96592232	Silent	SNP	A	TCGA-HT-A619-01A-11D-A29Q-08	42967986	96592232	18577646	53	30526											
PELI2	57161	broad.mit.edu	37	14	56763754	56763754	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr14:56763754C>G	ENST00000267460.4	+	6	1419	c.1133C>G	c.(1132-1134)gCa>gGa	p.A378G		NM_021255.2	NP_067078.1	Q9HAT8	PELI2_HUMAN	pellino E3 ubiquitin protein ligase family member 2	378					innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of protein phosphorylation|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	protein binding			kidney(6)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	22						GAGAAGTCTGCAAAATACTGG	0.532													39	85					0	0	1	0	0	G	56763754	C	G	56763754	3	3	323	1	0	0	0	0	1	0	0	0	11769	710	25	5	1155	5	PELI2	14	56763754	Missense_Mutation	SNP	C	TCGA-HT-A619-01A-11D-A29Q-08		56763754	50585786	54	30527											
VPS18	57617	broad.mit.edu	37	15	41193149	41193149	+	Silent	SNP	C	C	T	rs12914973	byFrequency	TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr15:41193149C>T	ENST00000220509.5	+	4	2472	c.2133C>T	c.(2131-2133)cgC>cgT	p.R711R	VPS18_ENST00000558474.1_Intron	NM_020857.2	NP_065908.1	Q9P253	VPS18_HUMAN	vacuolar protein sorting 18 homolog (S. cerevisiae)	711					endosome organization|lysosome organization|protein transport	HOPS complex|late endosome membrane|lysosomal membrane	metal ion binding|protein binding			autonomic_ganglia(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	28		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)		GCCACCACCGCGCTTGTGTCC	0.632													51	12					0	0	1	0	0	T	41193149	C	T	41193149	2	4	323	1	0	0	0	0	0	0	0	1	17254	755	27	1		1	VPS18	15	41193149	Silent	SNP	C	TCGA-HT-A619-01A-11D-A29Q-08		41193149	61338243	55	30528											
AP4E1	23431	broad.mit.edu	37	15	51289979	51289979	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr15:51289979T>C	ENST00000261842.5	+	18	2909	c.2803T>C	c.(2803-2805)Tgg>Cgg	p.W935R	AP4E1_ENST00000560508.1_Missense_Mutation_p.W860R|AP4E1_ENST00000561397.1_3'UTR	NM_001252127.1|NM_007347.4	NP_001239056.1|NP_031373.2	Q9UPM8	AP4E1_HUMAN	adaptor-related protein complex 4, epsilon 1 subunit	935					intracellular protein transport|vesicle-mediated transport	COPI vesicle coat	binding|structural molecule activity			breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(5)|skin(2)	27				all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364)		TTATAAAATTTGGAAAGATGA	0.308													5	23					0	0	1	0	0	C	51289979	T	C	51289979	3	2	323	1	0	0	0	0	1	0	0	0	748	1812	63	3	2873	3	AP4E1	15	51289979	Missense_Mutation	SNP	T	TCGA-HT-A619-01A-11D-A29Q-08	10096830	51289979	51241413	56	30529											
HERC1	8925	broad.mit.edu	37	15	63935628	63935628	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr15:63935628C>T	ENST00000443617.2	-	58	11393	c.11306G>A	c.(11305-11307)gGg>gAg	p.G3769E		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	3769					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						GTTCATGAGCCCACCTAGTCC	0.418													19	1					0	0	1	0	0	T	63935628	C	T	63935628	3	4	323	1	0	0	0	0	1	0	0	0	7098	623	22	2	3363	2	HERC1	15	63935628	Missense_Mutation	SNP	C	TCGA-HT-A619-01A-11D-A29Q-08	12645649	63935628	38595764	57	30530											
THOC6	79228	broad.mit.edu	37	16	3075763	3075763	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr16:3075763G>A	ENST00000326266.8	+	2	390	c.94G>A	c.(94-96)Gtc>Atc	p.V32I	THOC6_ENST00000574549.1_Missense_Mutation_p.V8I|THOC6_ENST00000575576.1_Missense_Mutation_p.V8I|THOC6_ENST00000253952.9_Missense_Mutation_p.V32I	NM_024339.3	NP_077315.2	Q86W42	THOC6_HUMAN	THO complex 6 homolog (Drosophila)	32					intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	RNA binding			central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	13						CTCCCAGAGCGTCTCACCATG	0.567													20	92					0	0	1	0	0	A	3075763	G	A	3075763	3	1	323	1	0	0	0	0	1	0	0	0	15929	1145	40	1	100	1	THOC6	16	3075763	Missense_Mutation	SNP	G	TCGA-HT-A619-01A-11D-A29Q-08		3075763	87278990	58	30531											
RLTPR	146206	broad.mit.edu	37	16	67690171	67690171	+	Silent	SNP	G	G	A			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr16:67690171G>A	ENST00000334583.6	+	34	4111	c.3783G>A	c.(3781-3783)tcG>tcA	p.S1261S	RLTPR_ENST00000545661.1_Silent_p.S1225S	NM_001013838.1	NP_001013860.1	Q6F5E8	LR16C_HUMAN	RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing	1261										breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		CTCCCATCTCGATCAAGTCCC	0.582													11	169					0	0	1	0	0	A	67690171	G	A	67690171	2	1	323	1	0	0	0	0	0	0	0	1	13446	1045	37	1		1	RLTPR	16	67690171	Silent	SNP	G	TCGA-HT-A619-01A-11D-A29Q-08	64614408	67690171	22664582	59	30532											
MLKL	197259	broad.mit.edu	37	16	74725174	74725174	+	Splice_Site	SNP	C	C	T	rs144019045	byFrequency	TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr16:74725174C>T	ENST00000308807.7	-	4	1186		c.e4+1		MLKL_ENST00000306247.7_Intron	NM_152649.2	NP_689862.1	Q8NB16	MLKL_HUMAN	mixed lineage kinase domain-like								ATP binding|protein binding|protein kinase activity	p.?(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(6)|skin(1)|stomach(2)	19						aaacaacttacgcaatgcTGC	0.438													132	154					0	0	1	0	0	T	74725174	C	T	74725174	5	4	323	1	0	0	0	0	0	0	1	0	9667	550	19	1	755	1	MLKL	16	74725174	Splice_Site	SNP	C	TCGA-HT-A619-01A-11D-A29Q-08	7035003	74725174	15629579	60	30533											
MYOCD	93649	broad.mit.edu	37	17	12655844	12655844	+	Silent	SNP	G	G	A	rs150316964	byFrequency	TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr17:12655844G>A	ENST00000425538.1	+	10	1439	c.1239G>A	c.(1237-1239)ccG>ccA	p.P413P	MYOCD_ENST00000395988.1_3'UTR|AC005358.1_ENST00000609971.1_Silent_p.P317P|MYOCD_ENST00000343344.4_Silent_p.P413P	NM_001146312.1|NM_153604.2	NP_001139784.1|NP_705832.1	Q8IZQ8	MYCD_HUMAN	myocardin	413					cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding	p.P413P(2)		breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		ACCCAGTGCCGAACTTTGGGG	0.552													55	76					0	0	1	0	0	A	12655844	G	A	12655844	2	1	323	1	0	0	0	0	0	0	0	1	10135	1045	37	1		1	MYOCD	17	12655844	Silent	SNP	G	TCGA-HT-A619-01A-11D-A29Q-08		12655844	68539366	61	30534											
TAOK1	57551	broad.mit.edu	37	17	27849514	27849514	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr17:27849514C>T	ENST00000261716.3	+	17	2644	c.2125C>T	c.(2125-2127)Cga>Tga	p.R709*	TAOK1_ENST00000536202.1_Intron	NM_020791.2	NP_065842.1	Q7L7X3	TAOK1_HUMAN	TAO kinase 1	709					mitotic prometaphase	cytosol|intracellular membrane-bounded organelle	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28			Colorectal(6;0.198)			CATGGAAGTTCGACAACAGCC	0.398													52	71					0	0	1	0	0	T	27849514	C	T	27849514	4	4	323	1	0	0	0	0	0	1	0	0	15604	876	31	1	2187	1	TAOK1	17	27849514	Nonsense_Mutation	SNP	C	TCGA-HT-A619-01A-11D-A29Q-08	15193670	27849514	53345696	62	30535											
SYNRG	11276	broad.mit.edu	37	17	35913795	35913795	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr17:35913795C>T	ENST00000339208.6	-	14	2170	c.2030G>A	c.(2029-2031)gGg>gAg	p.G677E	SYNRG_ENST00000588194.1_5'UTR|SYNRG_ENST00000502449.2_Missense_Mutation_p.G599E|SYNRG_ENST00000394378.2_Missense_Mutation_p.G599E|SYNRG_ENST00000346661.4_Missense_Mutation_p.G677E|SYNRG_ENST00000585472.1_Missense_Mutation_p.G598E|SYNRG_ENST00000591288.1_Missense_Mutation_p.G516E|SYNRG_ENST00000345615.4_Missense_Mutation_p.G599E	NM_001163544.1|NM_001163545.1|NM_007247.4	NP_001157016.1|NP_001157017.1|NP_009178.3	Q9UMZ2	SYNRG_HUMAN	synergin, gamma	677	Interaction with A1P1G1 and A1P1G2.				endocytosis|intracellular protein transport	AP-1 adaptor complex	calcium ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						AGAATATTCCCCAAAAAGGCT	0.433													39	58					0	0	1	0	0	T	35913795	C	T	35913795	3	4	323	1	0	0	0	0	1	0	0	0	15517	623	22	2	2023	2	SYNRG	17	35913795	Missense_Mutation	SNP	C	TCGA-HT-A619-01A-11D-A29Q-08	8064281	35913795	45281415	63	30536											
KRT38	8687	broad.mit.edu	37	17	39595476	39595476	+	Silent	SNP	G	G	C			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr17:39595476G>C	ENST00000246646.3	-	3	710	c.711C>G	c.(709-711)tcC>tcG	p.S237S		NM_006771.3	NP_006762.3	O76015	KRT38_HUMAN	keratin 38	237	Coil 1B.|Rod.					intermediate filament	structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	29		Breast(137;0.000496)				TGCTCTTGAGGGAGAGCTGCT	0.657													30	40					0	0	1	0	0	C	39595476	G	C	39595476	2	2	323	1	0	0	0	0	0	0	0	1	8518	1219	43	5		5	KRT38	17	39595476	Silent	SNP	G	TCGA-HT-A619-01A-11D-A29Q-08	3681681	39595476	41599734	64	30537											
MUC16	94025	broad.mit.edu	37	19	9084076	9084076	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr19:9084076G>T	ENST00000397910.4	-	1	7942	c.7739C>A	c.(7738-7740)aCa>aAa	p.T2580K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2580	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGAGGTGGGTGTAGTTGGGGT	0.483													15	120					1.15088e-07	1.20504e-07	1	1	0	T	9084076	G	T	9084076	3	4	323	1	0	0	0	0	1	0	0	0	10021	1377	48	5	36120	5	MUC16	19	9084076	Missense_Mutation	SNP	G	TCGA-HT-A619-01A-11D-A29Q-08		9084076	50044907	65	30538											
CRTC1	23373	broad.mit.edu	37	19	18879357	18879357	+	Silent	SNP	G	G	A			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr19:18879357G>A	ENST00000338797.6	+	11	1147	c.1122G>A	c.(1120-1122)gcG>gcA	p.A374A	CRTC1_ENST00000601916.1_Intron|CRTC1_ENST00000321949.8_Silent_p.A358A|CRTC1_ENST00000594658.1_Silent_p.A317A	NM_001098482.1	NP_001091952.1	Q6UUV9	CRTC1_HUMAN	CREB regulated transcription coactivator 1	358					interspecies interaction between organisms|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	cAMP response element binding protein binding|protein binding		CRTC1/MAML2(516)	NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	19						TCACCCAGGCGGGCTCCCAGC	0.751													8	17					0	0	1	0	0	A	18879357	G	A	18879357	2	1	323	1	0	0	0	0	0	0	0	1	3922	1103	39	1		1	CRTC1	19	18879357	Silent	SNP	G	TCGA-HT-A619-01A-11D-A29Q-08	9795281	18879357	40249626	66	30539											
CIC	23152	broad.mit.edu	37	19	42795608	42795609	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr19:42795608_42795609insC	ENST00000572681.2	+	11	5483_5484	c.5415_5416insC	c.(5416-5418)cccfs	p.P1806fs	CIC_ENST00000575354.2_Frame_Shift_Ins_p.P897fs|CIC_ENST00000160740.3_Frame_Shift_Ins_p.P897fs			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	897					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CCTCCGCCCCACCCCCCAAAGG	0.609			"Mis, F, S"		oligodendroglioma								88	17	---	---	---	---						C	42795609	-	C	42795608	7	5	323	1	0	1	1	0	0	0	0	0	3446	146	6	0	2726	0	CIC	19	42795608	Frame_Shift_Ins	INS	-	TCGA-HT-A619-01A-11D-A29Q-08	23916251	42795608	16333375	67	30540											
COX4I2	84701	broad.mit.edu	37	20	30231298	30231298	+	Silent	SNP	T	T	C			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr20:30231298T>C	ENST00000376075.3	+	4	414	c.339T>C	c.(337-339)atT>atC	p.I113I	COX4I2_ENST00000490030.1_Intron	NM_032609.2	NP_115998.2	Q96KJ9	COX42_HUMAN	cytochrome c oxidase subunit IV isoform 2 (lung)	113					cellular respiration		cytochrome-c oxidase activity			breast(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)	11	all_cancers(5;7.12e-06)|Lung NSC(7;3.95e-06)|all_epithelial(3;4.36e-06)|all_lung(7;6.68e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Epithelial(4;1.01e-05)|all cancers(5;9.46e-05)|OV - Ovarian serous cystadenocarcinoma(3;0.00121)|Colorectal(19;0.0055)|COAD - Colon adenocarcinoma(19;0.0264)			TCTTCTTCATTGGATTCGCAG	0.562													26	93					0	0	1	0	0	C	30231298	T	C	30231298	2	2	323	1	0	0	0	0	0	0	0	1	3793	1800	63	3		3	COX4I2	20	30231298	Silent	SNP	T	TCGA-HT-A619-01A-11D-A29Q-08		30231298	32794222	68	30541											
CRYBB3	1417	broad.mit.edu	37	22	25603098	25603098	+	Silent	SNP	C	C	T	rs140985147		TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr22:25603098C>T	ENST00000215855.2	+	6	635	c.555C>T	c.(553-555)gaC>gaT	p.D185D	CRYBB3_ENST00000404334.1_3'UTR	NM_004076.3	NP_004067.1	P26998	CRBB3_HUMAN	crystallin, beta B3	185	Beta/gamma crystallin 'Greek key' 4.				visual perception		protein binding|structural constituent of eye lens			large_intestine(2)|lung(2)|prostate(1)	5						ATGAGTGGGACGCCAGCCAGC	0.652													6	69					0	0	1	0	0	T	25603098	C	T	25603098	2	4	323	1	0	0	0	0	0	0	0	1	3935	535	19	1		1	CRYBB3	22	25603098	Silent	SNP	C	TCGA-HT-A619-01A-11D-A29Q-08		25603098	25701468	69	30542											
ACE2	59272	broad.mit.edu	37	X	15609937	15609937	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chrX:15609937C>T	ENST00000427411.1	-	5	698	c.482G>A	c.(481-483)aGg>aAg	p.R161K	ACE2_ENST00000252519.3_Missense_Mutation_p.R161K	NM_021804.2	NP_068576.1	Q9BYF1	ACE2_HUMAN	angiotensin I converting enzyme 2	161					angiotensin-mediated drinking behavior|proteolysis|receptor biosynthetic process|regulation of cell proliferation|virion attachment, binding of host cell surface receptor	cell surface|extracellular space|integral to membrane|membrane raft|plasma membrane	carboxypeptidase activity|glycoprotein binding|metallopeptidase activity|peptidyl-dipeptidase activity|viral receptor activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	32	Hepatocellular(33;0.183)				Moexipril(DB00691)	AGCCCAGAGCCTCTCATTGTA	0.398													6	277					0	0	1	0	0	T	15609937	C	T	15609937	3	4	323	1	0	0	0	0	1	0	0	0	137	681	24	2	1995	2	ACE2	23	15609937	Missense_Mutation	SNP	C	TCGA-HT-A619-01A-11D-A29Q-08		15609937	139660623	70	30543											
HMCN1	83872	broad.mit.edu	37	1	186084409	186084409	+	Silent	SNP	G	G	A			TCGA-HT-A61A-01A-11D-A29Q-08	TCGA-HT-A61A-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c19bfe8-48ac-4daa-a501-207daba21c54	c405c276-2fbb-43f3-8810-d309682f8196	g.chr1:186084409G>A	ENST00000271588.4	+	75	11653	c.11424G>A	c.(11422-11424)ccG>ccA	p.P3808P	HMCN1_ENST00000367492.2_Silent_p.P3808P	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	3808	Ig-like C2-type 37.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CTATTGCTCCGGGTCCTACCA	0.398													11	94					0	0	1	0	0	A	186084409	G	A	186084409	2	1	324	1	0	0	0	0	0	0	0	1	7261	1103	39	1		1	HMCN1	1	186084409	Silent	SNP	G	TCGA-HT-A61A-01A-11D-A29Q-08		186084409	63166212	1	30544											
GALNT14	79623	broad.mit.edu	37	2	31178596	31178596	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A61A-01A-11D-A29Q-08	TCGA-HT-A61A-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c19bfe8-48ac-4daa-a501-207daba21c54	c405c276-2fbb-43f3-8810-d309682f8196	g.chr2:31178596C>T	ENST00000349752.5	-	6	1181	c.542G>A	c.(541-543)cGg>cAg	p.R181Q	GALNT14_ENST00000420311.2_Missense_Mutation_p.R146Q|GALNT14_ENST00000324589.5_Missense_Mutation_p.R186Q|GALNT14_ENST00000406653.1_Missense_Mutation_p.R161Q|GALNT14_ENST00000356174.3_Missense_Mutation_p.R148Q	NM_024572.3	NP_078848.2	Q96FL9	GLT14_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14)	181	Catalytic subdomain A.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)	43	Acute lymphoblastic leukemia(172;0.155)					AATCCGGGACCGGACCAGACC	0.602													10	89					0	0	1	0	0	T	31178596	C	T	31178596	3	4	324	1	0	0	0	0	1	0	0	0	6252	652	23	1	1156	1	GALNT14	2	31178596	Missense_Mutation	SNP	C	TCGA-HT-A61A-01A-11D-A29Q-08		31178596	212020777	2	30545											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-HT-A61A-01A-11D-A29Q-08	TCGA-HT-A61A-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c19bfe8-48ac-4daa-a501-207daba21c54	c405c276-2fbb-43f3-8810-d309682f8196	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	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								5	66					0	0	1	0	0	T	209113112	C	T	209113112	3	4	324	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HT-A61A-01A-11D-A29Q-08	177934516	209113112	34086261	3	30546											
CEP72	55722	broad.mit.edu	37	5	620298	620298	+	Missense_Mutation	SNP	C	C	T	rs148249239		TCGA-HT-A61A-01A-11D-A29Q-08	TCGA-HT-A61A-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c19bfe8-48ac-4daa-a501-207daba21c54	c405c276-2fbb-43f3-8810-d309682f8196	g.chr5:620298C>T	ENST00000264935.5	+	3	415	c.325C>T	c.(325-327)Cgg>Tgg	p.R109W	CEP72_ENST00000444221.1_Missense_Mutation_p.R109W	NM_018140.3	NP_060610.2	Q9P209	CEP72_HUMAN	centrosomal protein 72kDa	109					G2/M transition of mitotic cell cycle|gamma-tubulin complex localization|spindle organization	centrosome|cytosol				autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(5)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	20			Epithelial(17;0.000339)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|Lung(60;0.0863)			TGTGGACTTCCGGCTGAACCC	0.572													4	111					0	0	1	0	0	T	620298	C	T	620298	3	4	324	1	0	0	0	0	1	0	0	0	3282	643	23	1	335	1	CEP72	5	620298	Missense_Mutation	SNP	C	TCGA-HT-A61A-01A-11D-A29Q-08		620298	180294962	4	30547											
GHR	2690	broad.mit.edu	37	5	42699991	42699991	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-A61A-01A-11D-A29Q-08	TCGA-HT-A61A-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c19bfe8-48ac-4daa-a501-207daba21c54	c405c276-2fbb-43f3-8810-d309682f8196	g.chr5:42699991G>T	ENST00000230882.4	+	6	695	c.505G>T	c.(505-507)Gca>Tca	p.A169S	GHR_ENST00000357703.3_Missense_Mutation_p.A147S|GHR_ENST00000537449.1_5'UTR	NM_000163.4|NM_001242399.2|NM_001242400.2|NM_001242401.3|NM_001242402.2|NM_001242403.2|NM_001242404.2|NM_001242405.2|NM_001242406.2	NP_000154.1|NP_001229328.1|NP_001229329.1|NP_001229330.1|NP_001229331.1|NP_001229332.1|NP_001229333.1|NP_001229334.1|NP_001229335.1	P10912	GHR_HUMAN	growth hormone receptor	169	Fibronectin type-III.				2-oxoglutarate metabolic process|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|JAK-STAT cascade|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane	growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding			NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39		Myeloproliferative disorder(839;0.00878)			Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	TGGGATTCATGCAGATATCCA	0.428													8	63					0.000274275	0.000287989	1	1	0	T	42699991	G	T	42699991	3	4	324	1	0	0	0	0	1	0	0	0	6413	1319	46	5	523	5	GHR	5	42699991	Missense_Mutation	SNP	G	TCGA-HT-A61A-01A-11D-A29Q-08	42079693	42699991	138215269	5	30548											
TNFAIP3	7128	broad.mit.edu	37	6	138201287	138201287	+	Silent	SNP	C	C	T			TCGA-HT-A61A-01A-11D-A29Q-08	TCGA-HT-A61A-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c19bfe8-48ac-4daa-a501-207daba21c54	c405c276-2fbb-43f3-8810-d309682f8196	g.chr6:138201287C>T	ENST00000237289.4	+	8	2052	c.1986C>T	c.(1984-1986)tgC>tgT	p.C662C		NM_001270507.1|NM_001270508.1|NM_006290.3	NP_001257436.1|NP_001257437.1|NP_006281.1	P21580	TNAP3_HUMAN	tumor necrosis factor, alpha-induced protein 3	662	Interaction with NAF1 (By similarity).				anti-apoptosis|apoptosis|B-1 B cell homeostasis|negative regulation of B cell activation|negative regulation of bone resorption|negative regulation of CD40 signaling pathway|negative regulation of endothelial cell apoptosis|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of inflammatory response|negative regulation of interleukin-2 production|negative regulation of interleukin-6 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of osteoclast proliferation|negative regulation of protein ubiquitination|negative regulation of smooth muscle cell proliferation|negative regulation of toll-like receptor 2 signaling pathway|negative regulation of toll-like receptor 3 signaling pathway|negative regulation of tumor necrosis factor production|negative regulation of type I interferon production|positive regulation of protein catabolic process|protein K48-linked ubiquitination|protein K63-linked deubiquitination|protein oligomerization|regulation of defense response to virus by host|regulation of germinal center formation|regulation of vascular wound healing|tolerance induction to lipopolysaccharide	centrosome|cytosol|nucleus	caspase inhibitor activity|DNA binding|protease binding|protein self-association|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-protein ligase activity|ubiquitin-specific protease activity|zinc ion binding	p.0?(25)|p.C662fs*36(1)		breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(196)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	225	Breast(32;0.135)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000849)|OV - Ovarian serous cystadenocarcinoma(155;0.00468)		GGAGGGAATGCGGCACCCTTG	0.502			"D, N, F"		"marginal zone B-cell lymphomas, Hodgkin's lymphoma, primary mediastinal B cell lymphoma"								4	75					0	0	1	0	0	T	138201287	C	T	138201287	2	4	324	1	0	0	0	0	0	0	0	1	16334	776	27	1		1	TNFAIP3	6	138201287	Silent	SNP	C	TCGA-HT-A61A-01A-11D-A29Q-08		138201287	32913780	6	30549											
POLR3A	11128	broad.mit.edu	37	10	79777419	79777419	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-A61A-01A-11D-A29Q-08	TCGA-HT-A61A-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c19bfe8-48ac-4daa-a501-207daba21c54	c405c276-2fbb-43f3-8810-d309682f8196	g.chr10:79777419T>C	ENST00000372371.3	-	10	1482	c.1345A>G	c.(1345-1347)Atc>Gtc	p.I449V	POLR3A_ENST00000484760.1_5'UTR	NM_007055.3	NP_008986.2	O14802	RPC1_HUMAN	polymerase (RNA) III (DNA directed) polypeptide A, 155kDa	449					innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding			breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)			CTCTCTACGATGTCACCATAC	0.448													14	82					0	0	1	0	0	C	79777419	T	C	79777419	3	2	324	1	0	0	0	0	1	0	0	0	12276	1464	51	3	2915	3	POLR3A	10	79777419	Missense_Mutation	SNP	T	TCGA-HT-A61A-01A-11D-A29Q-08		79777419	55757328	7	30550											
LTBP3	4054	broad.mit.edu	37	11	65306608	65306608	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HT-A61A-01A-11D-A29Q-08	TCGA-HT-A61A-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c19bfe8-48ac-4daa-a501-207daba21c54	c405c276-2fbb-43f3-8810-d309682f8196	g.chr11:65306608delT	ENST00000301873.5	-	28	4123	c.3855delA	c.(3853-3855)aaafs	p.K1285fs	LTBP3_ENST00000530785.1_Frame_Shift_Del_p.K288fs|LTBP3_ENST00000532932.1_Frame_Shift_Del_p.K715fs|LTBP3_ENST00000536982.1_Frame_Shift_Del_p.K864fs|LTBP3_ENST00000322147.4_Frame_Shift_Del_p.K1238fs|LTBP3_ENST00000529189.1_Frame_Shift_Del_p.K241fs	NM_001130144.2	NP_001123616.1	Q9NS15	LTBP3_HUMAN	latent transforming growth factor beta binding protein 3	1285	EGF-like 13; calcium-binding (Potential).					extracellular region	calcium ion binding|growth factor binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(3)	23						CGAAGCCGGCTTTGCAGACGC	0.706													2	4	---	---	---	---						-	65306608	T	-	65306608	7	5	324	1	0	1	0	1	0	0	0	0	9120	1606	56	0	60	0	LTBP3	11	65306608	Frame_Shift_Del	DEL	T	TCGA-HT-A61A-01A-11D-A29Q-08		65306608	69699908	8	30551											
BRCA2	675	broad.mit.edu	37	13	32907165	32907165	+	Missense_Mutation	SNP	A	A	G	rs80358439		TCGA-HT-A61A-01A-11D-A29Q-08	TCGA-HT-A61A-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c19bfe8-48ac-4daa-a501-207daba21c54	c405c276-2fbb-43f3-8810-d309682f8196	g.chr13:32907165A>G	ENST00000544455.1	+	10	1777	c.1550A>G	c.(1549-1551)aAt>aGt	p.N517S	BRCA2_ENST00000380152.3_Missense_Mutation_p.N517S	NM_000059.3	NP_000050	P51587	BRCA2_HUMAN	breast cancer 2, early onset	517					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		GAGACTTTCAATGCAAGTTTT	0.373			"D, Mis, N, F, S"		"breast, ovarian, pancreatic"	"breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			10	119					0	0	1	0	0	G	32907165	A	G	32907165	3	3	324	1	0	0	0	0	1	0	0	0	1501	101	4	3	1584	3	BRCA2	13	32907165	Missense_Mutation	SNP	A	TCGA-HT-A61A-01A-11D-A29Q-08		32907165	82262713	9	30552											
ALDH6A1	4329	broad.mit.edu	37	14	74535667	74535667	+	Missense_Mutation	SNP	C	C	A			TCGA-HT-A61A-01A-11D-A29Q-08	TCGA-HT-A61A-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c19bfe8-48ac-4daa-a501-207daba21c54	c405c276-2fbb-43f3-8810-d309682f8196	g.chr14:74535667C>A	ENST00000553458.1	-	7	846	c.748G>T	c.(748-750)Gat>Tat	p.D250Y	ALDH6A1_ENST00000555126.1_5'UTR|ALDH6A1_ENST00000350259.4_Missense_Mutation_p.D237Y|AC005484.5_ENST00000492026.1_RNA|CCDC176_ENST00000553773.1_Intron	NM_001278593.1|NM_005589.2	NP_001265522.1|NP_005580.1	Q02252	MMSA_HUMAN	aldehyde dehydrogenase 6 family, member A1	250						mitochondrial matrix|nucleus	fatty-acyl-CoA binding|malonate-semialdehyde dehydrogenase (acetylating) activity|methylmalonate-semialdehyde dehydrogenase (acylating) activity			NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(3)|skin(3)	21				BRCA - Breast invasive adenocarcinoma(234;0.00354)	NADH(DB00157)	TCCGGATGATCGCAAATAAAA	0.418													5	27					0.014758	0.014758	1	1	0	A	74535667	C	A	74535667	3	1	324	1	0	0	0	0	1	0	0	0	500	884	31	5	883	5	ALDH6A1	14	74535667	Missense_Mutation	SNP	C	TCGA-HT-A61A-01A-11D-A29Q-08		74535667	32813873	10	30553											
SPG11	80208	broad.mit.edu	37	15	44858098	44858098	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A61A-01A-11D-A29Q-08	TCGA-HT-A61A-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c19bfe8-48ac-4daa-a501-207daba21c54	c405c276-2fbb-43f3-8810-d309682f8196	g.chr15:44858098C>T	ENST00000261866.7	-	38	6969	c.6953G>A	c.(6952-6954)cGc>cAc	p.R2318H	SPG11_ENST00000535302.2_Missense_Mutation_p.R2205H|SPG11_ENST00000427534.2_Intron	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	2318					cell death	cytosol|integral to membrane|nucleus	protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		CAGCTTGTGGCGGCCCAAGTT	0.527													3	34					0	0	1	0	0	T	44858098	C	T	44858098	3	4	324	1	0	0	0	0	1	0	0	0	15097	768	27	1	390	1	SPG11	15	44858098	Missense_Mutation	SNP	C	TCGA-HT-A61A-01A-11D-A29Q-08		44858098	57673294	11	30554											
MYBBP1A	10514	broad.mit.edu	37	17	4445773	4445773	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A61A-01A-11D-A29Q-08	TCGA-HT-A61A-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c19bfe8-48ac-4daa-a501-207daba21c54	c405c276-2fbb-43f3-8810-d309682f8196	g.chr17:4445773G>A	ENST00000254718.4	-	22	3379	c.3073C>T	c.(3073-3075)Cgg>Tgg	p.R1025W	MYBBP1A_ENST00000381556.2_Missense_Mutation_p.R1025W			Q9BQG0	MBB1A_HUMAN	MYB binding protein (P160) 1a	1025					nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NLS-dependent protein nuclear import complex|nucleolus	DNA binding|DNA-directed DNA polymerase activity|transcription factor binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)	24						TGACGGGGCCGCACCGGGCCC	0.617													4	132					0	0	1	0	0	A	4445773	G	A	4445773	3	1	324	1	0	0	0	0	1	0	0	0	10056	1086	38	1	973	1	MYBBP1A	17	4445773	Missense_Mutation	SNP	G	TCGA-HT-A61A-01A-11D-A29Q-08		4445773	76749437	12	30555											
EPN2	22905	broad.mit.edu	37	17	19213263	19213263	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-A61A-01A-11D-A29Q-08	TCGA-HT-A61A-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c19bfe8-48ac-4daa-a501-207daba21c54	c405c276-2fbb-43f3-8810-d309682f8196	g.chr17:19213263C>G	ENST00000314728.5	+	5	1316	c.832C>G	c.(832-834)Ctt>Gtt	p.L278V	EPN2_ENST00000395618.3_5'UTR|EPN2_ENST00000395626.1_Missense_Mutation_p.L278V|EPN2_ENST00000571254.1_Missense_Mutation_p.L221V|EPN2_ENST00000347697.2_Missense_Mutation_p.L221V|EPN2_ENST00000575595.1_5'UTR|EPN2_ENST00000395620.2_Missense_Mutation_p.L221V	NM_014964.4	NP_055779.2	O95208	EPN2_HUMAN	epsin 2	278					endocytosis		lipid binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	19	all_cancers(12;3.11e-05)|all_epithelial(12;0.00121)|Hepatocellular(7;0.00345)|Breast(13;0.143)					AGAAGAGGAGCTTCAGCTGCA	0.597													9	104					0	0	1	0	0	G	19213263	C	G	19213263	3	3	324	1	0	0	0	0	1	0	0	0	5214	797	28	4	842	4	EPN2	17	19213263	Missense_Mutation	SNP	C	TCGA-HT-A61A-01A-11D-A29Q-08	14767490	19213263	61981947	13	30556											
ZSCAN5B	342933	broad.mit.edu	37	19	56704284	56704284	+	Silent	SNP	A	A	G			TCGA-HT-A61A-01A-11D-A29Q-08	TCGA-HT-A61A-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c19bfe8-48ac-4daa-a501-207daba21c54	c405c276-2fbb-43f3-8810-d309682f8196	g.chr19:56704284A>G	ENST00000586855.2	-	2	451	c.138T>C	c.(136-138)aaT>aaC	p.N46N	ZSCAN5B_ENST00000358992.3_Silent_p.N46N			A6NJL1	ZSA5B_HUMAN	zinc finger and SCAN domain containing 5B	46	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.N46N(2)		breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						ACATCCTGAAATTCATGTGCC	0.577													3	36					0	0	1	0	0	G	56704284	A	G	56704284	2	3	324	1	0	0	0	0	0	0	0	1	18279	98	4	3		3	ZSCAN5B	19	56704284	Silent	SNP	A	TCGA-HT-A61A-01A-11D-A29Q-08		56704284	2424699	14	30557											
FTCD	10841	broad.mit.edu	37	21	47572855	47572855	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HT-A61A-01A-11D-A29Q-08	TCGA-HT-A61A-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c19bfe8-48ac-4daa-a501-207daba21c54	c405c276-2fbb-43f3-8810-d309682f8196	g.chr21:47572855delA	ENST00000397748.1	-	3	376	c.333delT	c.(331-333)tttfs	p.F111fs	FTCD_ENST00000359679.2_Frame_Shift_Del_p.F111fs|FTCD_ENST00000355384.2_Frame_Shift_Del_p.F111fs|FTCD_ENST00000397746.3_Frame_Shift_Del_p.F111fs|FTCD_ENST00000498355.2_5'UTR|FTCD_ENST00000397743.1_Frame_Shift_Del_p.F111fs|FTCD_ENST00000291670.5_Frame_Shift_Del_p.F111fs			O95954	FTCD_HUMAN	formimidoyltransferase cyclodeaminase	111	Formiminotransferase N-subdomain (By similarity).				folic acid-containing compound metabolic process|histidine catabolic process	centriole|cytosol|Golgi apparatus	folic acid binding|formimidoyltetrahydrofolate cyclodeaminase activity|glutamate formimidoyltransferase activity			endometrium(1)|large_intestine(2)|lung(9)|pancreas(1)|prostate(3)|skin(3)	19	Breast(49;0.214)			Colorectal(79;0.235)	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116)	GCCTCTGGCCAAAGGCCTGGG	0.672													2	4	---	---	---	---						-	47572855	A	-	47572855	7	5	324	1	0	1	0	1	0	0	0	0	6116	127	5	0	1340	0	FTCD	21	47572855	Frame_Shift_Del	DEL	A	TCGA-HT-A61A-01A-11D-A29Q-08		47572855	557040	15	30558											
MEGF6	1953	broad.mit.edu	37	1	3428609	3428609	+	Missense_Mutation	SNP	C	C	A			TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr1:3428609C>A	ENST00000356575.4	-	8	1163	c.937G>T	c.(937-939)Gcg>Tcg	p.A313S	MEGF6_ENST00000294599.4_Missense_Mutation_p.A208S	NM_001409.3	NP_001400.3	O75095	MEGF6_HUMAN	multiple EGF-like-domains 6	313	EGF-like 5; calcium-binding (Potential).		A -> V (in dbSNP:rs11585362).			extracellular region	calcium ion binding			cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)		TCATAGCCCGCGTGACACACG	0.667													70	72					3.89499e-28	4.2091e-28	1	1	0	A	3428609	C	A	3428609	3	1	325	1	0	0	0	0	1	0	0	0	9512	768	27	5	3808	5	MEGF6	1	3428609	Missense_Mutation	SNP	C	TCGA-HT-A61B-01A-11D-A29Q-08		3428609	245822012	1	30559											
FAM43B	163933	broad.mit.edu	37	1	20880268	20880270	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr1:20880268_20880270delGAG	ENST00000332947.4	+	1	1337_1339	c.802_804delGAG	c.(802-804)gagdel	p.E272del		NM_207334.2	NP_997217.1	Q6ZT52	FA43B_HUMAN	family with sequence similarity 43, member B	272										large_intestine(1)|lung(2)	3		Colorectal(325;0.000147)|Renal(390;0.000469)|Lung NSC(340;0.00412)|all_lung(284;0.00419)|Breast(348;0.00979)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|COAD - Colon adenocarcinoma(152;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000132)|Kidney(64;0.00016)|GBM - Glioblastoma multiforme(114;0.000399)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.195)		ggaggaggacgaggaggaggagg	0.744													3	4	---	---	---	---						-	20880270	GAG	-	20880268	7	5	325	1	0	1	0	1	0	0	0	0	5599	1059	37	0	804	0	FAM43B	1	20880268	In_Frame_Del	DEL	GAG	TCGA-HT-A61B-01A-11D-A29Q-08	17451659	20880268	228370353	2	30560											
KCNA2	3737	broad.mit.edu	37	1	111146564	111146564	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr1:111146564C>T	ENST00000485317.1	-	3	1514	c.841G>A	c.(841-843)Gct>Act	p.A281T	KCNA2_ENST00000369770.3_Missense_Mutation_p.A281T|KCNA2_ENST00000440270.1_Missense_Mutation_p.A281T|KCNA2_ENST00000316361.4_Missense_Mutation_p.A281T			P16389	KCNA2_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 2	281						juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity			endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		all_cancers(81;5.55e-06)|all_epithelial(167;1.87e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Colorectal(144;0.00878)|Lung(183;0.0234)|all cancers(265;0.0492)|Epithelial(280;0.0529)|COAD - Colon adenocarcinoma(174;0.131)|LUSC - Lung squamous cell carcinoma(189;0.133)|READ - Rectum adenocarcinoma(129;0.191)		CCTTGCTGAGCGTCCTCTGGC	0.522													6	174					0	0	1	0	0	T	111146564	C	T	111146564	3	4	325	1	0	0	0	0	1	0	0	0	8047	768	27	1	662	1	KCNA2	1	111146564	Missense_Mutation	SNP	C	TCGA-HT-A61B-01A-11D-A29Q-08	90266296	111146564	138104057	3	30561											
IPO9	55705	broad.mit.edu	37	1	201841994	201841994	+	Missense_Mutation	SNP	A	A	G	rs141172151		TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr1:201841994A>G	ENST00000361565.4	+	20	2684	c.2615A>G	c.(2614-2616)aAt>aGt	p.N872S		NM_018085.4	NP_060555.2	Q96P70	IPO9_HUMAN	importin 9	872					protein import into nucleus	cytoplasm|nucleus	histone binding|protein transporter activity			cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	38						CATGGCATCAATGCAGATGAC	0.527													20	82					0	0	1	0	0	G	201841994	A	G	201841994	3	3	325	1	0	0	0	0	1	0	0	0	7843	101	4	3	2693	3	IPO9	1	201841994	Missense_Mutation	SNP	A	TCGA-HT-A61B-01A-11D-A29Q-08	90695430	201841994	47408627	4	30562											
OR2T12	127064	broad.mit.edu	37	1	248458438	248458438	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr1:248458438A>G	ENST00000317996.1	-	1	442	c.443T>C	c.(442-444)cTc>cCc	p.L148P		NM_001004692.1	NP_001004692.1	Q8NG77	O2T12_HUMAN	olfactory receptor, family 2, subfamily T, member 12	148					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L148H(1)		endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0201)			TGCACCCAGGAGCCAGGACGA	0.612													63	71					0	0	1	0	0	G	248458438	A	G	248458438	3	3	325	1	0	0	0	0	1	0	0	0	11067	304	11	3	522	3	OR2T12	1	248458438	Missense_Mutation	SNP	A	TCGA-HT-A61B-01A-11D-A29Q-08	46616444	248458438	792183	5	30563											
C2orf53	339779	broad.mit.edu	37	2	27360157	27360157	+	Silent	SNP	G	G	A			TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr2:27360157G>A	ENST00000335524.3	-	3	1566	c.1041C>T	c.(1039-1041)gcC>gcT	p.A347A		NM_178553.3	NP_848648.2	Q53SZ7	CB053_HUMAN	chromosome 2 open reading frame 53	347										cervix(1)|endometrium(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGACTGGGTCGGCCCGGGCCT	0.637													38	106					0	0	1	0	0	A	27360157	G	A	27360157	2	1	325	1	0	0	0	0	0	0	0	1	2188	1103	39	1		1	C2orf53	2	27360157	Silent	SNP	G	TCGA-HT-A61B-01A-11D-A29Q-08		27360157	215839216	6	30564											
FAM126B	285172	broad.mit.edu	37	2	201876188	201876188	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr2:201876188G>A	ENST00000418596.3	-	6	528	c.341C>T	c.(340-342)gCt>gTt	p.A114V		NM_173822.3	NP_776183.1	Q8IXS8	F126B_HUMAN	family with sequence similarity 126, member B							intracellular				endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16						ATCTTTATCAGCGATTTCCTA	0.303													7	10					0	0	1	0	0	A	201876188	G	A	201876188	3	1	325	1	0	0	0	0	1	0	0	0	5461	971	34	2	1279	2	FAM126B	2	201876188	Missense_Mutation	SNP	G	TCGA-HT-A61B-01A-11D-A29Q-08	174516031	201876188	41323185	7	30565											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	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	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								14	38					0	0	1	0	0	T	209113112	C	T	209113112	3	4	325	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HT-A61B-01A-11D-A29Q-08	7236924	209113112	34086261	8	30566											
CCDC108	255101	broad.mit.edu	37	2	219868765	219868765	+	Missense_Mutation	SNP	A	A	T			TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr2:219868765A>T	ENST00000341552.5	-	33	5547	c.5464T>A	c.(5464-5466)Tcc>Acc	p.S1822T	CCDC108_ENST00000453220.1_Missense_Mutation_p.S1822T|CCDC108_ENST00000441968.1_Missense_Mutation_p.S1822T|AC097468.4_ENST00000441450.1_RNA	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	1822	Glu-rich.					integral to membrane	structural molecule activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GACTCCTGGGACTCAGGCTGT	0.577													133	137					0	0	1	0	0	T	219868765	A	T	219868765	3	4	325	1	0	0	0	0	1	0	0	0	2761	275	10	5	325	5	CCDC108	2	219868765	Missense_Mutation	SNP	A	TCGA-HT-A61B-01A-11D-A29Q-08	10755653	219868765	23330608	9	30567											
ESPNL	339768	broad.mit.edu	37	2	239040177	239040177	+	Missense_Mutation	SNP	G	G	A	rs143407493		TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr2:239040177G>A	ENST00000343063.3	+	9	3085	c.2822G>A	c.(2821-2823)cGc>cAc	p.R941H	ESPNL_ENST00000409169.1_Missense_Mutation_p.R897H|ESPNL_ENST00000409506.1_Missense_Mutation_p.R573H|ESPNL_ENST00000477241.1_3'UTR	NM_194312.2	NP_919288.2	Q6ZVH7	ESPNL_HUMAN	espin-like	941										endometrium(1)|lung(8)|pancreas(2)|skin(2)	13		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		GAGCCTGGCCGCAAGTCAGGT	0.731													3	33					0	0	1	0	0	A	239040177	G	A	239040177	3	1	325	1	0	0	0	0	1	0	0	0	5283	1087	38	1	2856	1	ESPNL	2	239040177	Missense_Mutation	SNP	G	TCGA-HT-A61B-01A-11D-A29Q-08	19171412	239040177	4159196	10	30568											
ITPR1	3708	broad.mit.edu	37	3	4699950	4699950	+	Missense_Mutation	SNP	G	G	A	rs6766212		TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr3:4699950G>A	ENST00000302640.8	+	12	1444	c.1094G>A	c.(1093-1095)aGc>aAc	p.S365N	ITPR1_ENST00000456211.2_Missense_Mutation_p.S365N|ITPR1_ENST00000443694.2_Missense_Mutation_p.S365N|ITPR1_ENST00000354582.6_Missense_Mutation_p.S380N|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000357086.4_Missense_Mutation_p.S380N|ITPR1_ENST00000423119.2_Missense_Mutation_p.S380N	NM_001168272.1	NP_001161744.1	Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	380	MIR 4.				activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		GGAGGTGACAGCCTTGTCCCA	0.493													8	56					0	0	1	0	0	A	4699950	G	A	4699950	3	1	325	1	0	0	0	0	1	0	0	0	7964	971	34	2	1181	2	ITPR1	3	4699950	Missense_Mutation	SNP	G	TCGA-HT-A61B-01A-11D-A29Q-08		4699950	193322480	11	30569											
GOLGA4	2803	broad.mit.edu	37	3	37396655	37396655	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr3:37396655G>T	ENST00000361924.2	+	22	7014	c.6640G>T	c.(6640-6642)Gaa>Taa	p.E2214*	GOLGA4_ENST00000356847.4_Nonsense_Mutation_p.E2229*|GOLGA4_ENST00000444882.1_Intron	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN	golgin A4	2214	GRIP.				Golgi to plasma membrane protein transport	Golgi membrane|trans-Golgi network	protein binding	p.L2213_E2214>F*(2)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						GAAAATTTTGGAAAGAGAAGA	0.383													27	52					2.25844e-05	2.32793e-05	1	1	0	T	37396655	G	T	37396655	4	4	325	1	0	0	0	0	0	1	0	0	6597	1175	41	5	6796	5	GOLGA4	3	37396655	Nonsense_Mutation	SNP	G	TCGA-HT-A61B-01A-11D-A29Q-08	32696705	37396655	160625775	12	30570											
DNASE1L3	1776	broad.mit.edu	37	3	58190566	58190566	+	Missense_Mutation	SNP	G	G	C			TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr3:58190566G>C	ENST00000483681.1	-	6	944	c.363C>G	c.(361-363)gaC>gaG	p.D121E	DNASE1L3_ENST00000394549.2_Missense_Mutation_p.D121E|DNASE1L3_ENST00000486455.1_Missense_Mutation_p.D91E|DNASE1L3_ENST00000318316.3_Missense_Mutation_p.D121E			Q13609	DNSL3_HUMAN	deoxyribonuclease I-like 3	121					apoptosis|DNA catabolic process	nucleus	calcium ion binding|DNA binding|endodeoxyribonuclease activity, producing 5'-phosphomonoesters			breast(2)|large_intestine(4)|lung(6)	12				BRCA - Breast invasive adenocarcinoma(55;0.00021)|KIRC - Kidney renal clear cell carcinoma(284;0.0445)|Kidney(284;0.0556)|OV - Ovarian serous cystadenocarcinoma(275;0.202)		CATCCTGATAGTCATGGTAGT	0.493													12	54					0	0	1	0	0	C	58190566	G	C	58190566	3	2	325	1	0	0	0	0	1	0	0	0	4690	1020	36	4	574	4	DNASE1L3	3	58190566	Missense_Mutation	SNP	G	TCGA-HT-A61B-01A-11D-A29Q-08	20793911	58190566	139831864	13	30571											
TP63	8626	broad.mit.edu	37	3	189604292	189604292	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr3:189604292C>T	ENST00000264731.3	+	11	1548	c.1459C>T	c.(1459-1461)Cgc>Tgc	p.R487C	TP63_ENST00000382063.4_Missense_Mutation_p.R402C|TP63_ENST00000449992.1_Missense_Mutation_p.R308C|TP63_ENST00000456148.1_Missense_Mutation_p.R389C|TP63_ENST00000354600.5_Missense_Mutation_p.R393C|TP63_ENST00000440651.2_Missense_Mutation_p.R483C|TP63_ENST00000392460.3_Missense_Mutation_p.R487C|TP63_ENST00000392461.3_Missense_Mutation_p.R393C|TP63_ENST00000320472.5_Missense_Mutation_p.R487C|TP63_ENST00000392463.2_Missense_Mutation_p.R393C	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	487					anti-apoptosis|cellular response to UV|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|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		CCCTCAGCAGCGCAACGCCCT	0.502										HNSCC(45;0.13)			24	57					0	0	1	0	0	T	189604292	C	T	189604292	3	4	325	1	0	0	0	0	1	0	0	0	16453	768	27	1	1666	1	TP63	3	189604292	Missense_Mutation	SNP	C	TCGA-HT-A61B-01A-11D-A29Q-08	131413726	189604292	8418138	14	30572											
TMPRSS11F	389208	broad.mit.edu	37	4	68935722	68935722	+	Missense_Mutation	SNP	A	A	C			TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr4:68935722A>C	ENST00000356291.2	-	6	577	c.518T>G	c.(517-519)aTt>aGt	p.I173S	UBA6-AS1_ENST00000499180.2_RNA|UBA6-AS1_ENST00000500538.2_RNA|UBA6-AS1_ENST00000511571.1_RNA	NM_207407.2	NP_997290.2	Q6ZWK6	TM11F_HUMAN	transmembrane protease, serine 11F	173	SEA.				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(4)	39						TTTGCTGTCAATAGCTGGAAT	0.313													31	79					0	0	1	0	0	C	68935722	A	C	68935722	3	2	325	1	0	0	0	0	1	0	0	0	16303	101	4	4	818	4	TMPRSS11F	4	68935722	Missense_Mutation	SNP	A	TCGA-HT-A61B-01A-11D-A29Q-08		68935722	122218554	15	30573											
MMAA	166785	broad.mit.edu	37	4	146560298	146560298	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr4:146560298A>G	ENST00000281317.5	+	2	1217	c.7A>G	c.(7-9)Atg>Gtg	p.M3V	MMAA_ENST00000541599.1_5'UTR	NM_172250.2	NP_758454.1	Q8IVH4	MMAA_HUMAN	methylmalonic aciduria (cobalamin deficiency) cblA type	3						mitochondrion	GTP binding|nucleoside-triphosphatase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)	17	all_hematologic(180;0.151)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GAATATGCCCATGCTGCTACC	0.423													69	97					0	0	1	0	0	G	146560298	A	G	146560298	3	3	325	1	0	0	0	0	1	0	0	0	9687	217	8	3	9	3	MMAA	4	146560298	Missense_Mutation	SNP	A	TCGA-HT-A61B-01A-11D-A29Q-08	77624576	146560298	44593978	16	30574											
SDHA	6389	broad.mit.edu	37	5	256470	256470	+	Missense_Mutation	SNP	G	G	A	rs3211483		TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr5:256470G>A	ENST00000264932.6	+	15	2045	c.1930G>A	c.(1930-1932)Gtg>Atg	p.V644M	SDHA_ENST00000507522.1_3'UTR|SDHA_ENST00000510361.1_Missense_Mutation_p.V596M|SDHA_ENST00000504309.1_Missense_Mutation_p.V563M	NM_004168.2	NP_004159.2	P31040	DHSA_HUMAN	succinate dehydrogenase complex, subunit A, flavoprotein (Fp)	644					nervous system development|respiratory electron transport chain|succinate metabolic process|transport|tricarboxylic acid cycle	mitochondrial respiratory chain complex II	electron carrier activity|flavin adenine dinucleotide binding|protein binding|succinate dehydrogenase (ubiquinone) activity			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|liver(2)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	40			Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		Succinic acid(DB00139)	ATATAGACCCGTGATCGACAA	0.428									Familial Paragangliomas				5	177					0	0	1	0	0	A	256470	G	A	256470	3	1	325	1	0	0	0	0	1	0	0	0	14017	1145	40	1	1988	1	SDHA	5	256470	Missense_Mutation	SNP	G	TCGA-HT-A61B-01A-11D-A29Q-08		256470	180658790	17	30575											
CDH12	1010	broad.mit.edu	37	5	21752319	21752319	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr5:21752319G>A	ENST00000382254.1	-	15	2998	c.1912C>T	c.(1912-1914)Cga>Tga	p.R638*	CDH12_ENST00000504376.2_Nonsense_Mutation_p.R638*|CDH12_ENST00000521384.1_5'UTR|RP11-804N13.1_ENST00000522350.1_RNA|CDH12_ENST00000522262.1_Nonsense_Mutation_p.R598*	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	638					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						TTCTGCCTTCGCAGTGCTACA	0.398										HNSCC(59;0.17)			34	11					0	0	1	0	0	A	21752319	G	A	21752319	4	1	325	1	0	0	0	0	0	1	0	0	3120	1095	38	1	476	1	CDH12	5	21752319	Nonsense_Mutation	SNP	G	TCGA-HT-A61B-01A-11D-A29Q-08	21495849	21752319	159162941	18	30576											
MRPS27	23107	broad.mit.edu	37	5	71593520	71593520	+	Missense_Mutation	SNP	G	G	C			TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr5:71593520G>C	ENST00000261413.5	-	3	200	c.161C>G	c.(160-162)gCa>gGa	p.A54G	MRPS27_ENST00000513900.1_Missense_Mutation_p.A54G|MRPS27_ENST00000522095.1_Missense_Mutation_p.A54G|MRPS27_ENST00000515404.1_5'UTR|MRPS27_ENST00000457646.4_5'UTR	NM_015084.2	NP_055899.2	Q92552	RT27_HUMAN	mitochondrial ribosomal protein S27	54						mitochondrion|ribosome				breast(1)|endometrium(1)|large_intestine(2)|lung(2)	6		Lung NSC(167;0.00237)|Ovarian(174;0.0175)|Prostate(461;0.141)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.46e-53)		CATTAAAGATGCAAGATCAGC	0.294													4	14					0	0	1	0	0	C	71593520	G	C	71593520	3	2	325	1	0	0	0	0	1	0	0	0	9887	1319	46	5	1119	5	MRPS27	5	71593520	Missense_Mutation	SNP	G	TCGA-HT-A61B-01A-11D-A29Q-08	49841201	71593520	109321740	19	30577											
PCDHA1	56147	broad.mit.edu	37	5	140167485	140167485	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr5:140167485C>T	ENST00000504120.2	+	1	1610	c.1610C>T	c.(1609-1611)gCg>gTg	p.A537V	PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000378133.3_Missense_Mutation_p.A537V	NM_018900.2	NP_061723.1														breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGGTGAGCGCGCGGGATGCG	0.677													16	296					0	0	1	0	0	T	140167485	C	T	140167485	3	4	325	1	0	0	0	0	1	0	0	0	11566	768	27	1	1612	1	PCDHA1	5	140167485	Missense_Mutation	SNP	C	TCGA-HT-A61B-01A-11D-A29Q-08	68573965	140167485	40747775	20	30578											
PCDHA2	56146	broad.mit.edu	37	5	140176511	140176511	+	Silent	SNP	C	C	T			TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr5:140176511C>T	ENST00000526136.1	+	1	1962	c.1962C>T	c.(1960-1962)caC>caT	p.H654H	PCDHA2_ENST00000378132.1_Silent_p.H654H|PCDHA2_ENST00000520672.2_Silent_p.H654H|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018905.2	NP_061728.1														NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGAAGGACCACGGCGAACCAG	0.667													4	141					0	0	1	0	0	T	140176511	C	T	140176511	2	4	325	1	0	0	0	0	0	0	0	1	11571	535	19	1		1	PCDHA2	5	140176511	Silent	SNP	C	TCGA-HT-A61B-01A-11D-A29Q-08	9026	140176511	40738749	21	30579											
STK32A	202374	broad.mit.edu	37	5	146657719	146657719	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr5:146657719A>G	ENST00000397936.3	+	3	418	c.85A>G	c.(85-87)Att>Gtt	p.I29V	STK32A_ENST00000398523.3_Missense_Mutation_p.I29V|STK32A_ENST00000541094.1_Missense_Mutation_p.I29V|STK32A_ENST00000398521.3_Missense_Mutation_p.I29V	NM_001112724.1	NP_001106195.1	Q8WU08	ST32A_HUMAN	serine/threonine kinase 32A	29	Protein kinase.						ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTTGCGAGCCATTGGGAAAGG	0.358													5	11					0	0	1	0	0	G	146657719	A	G	146657719	3	3	325	1	0	0	0	0	1	0	0	0	15353	217	8	3	91	3	STK32A	5	146657719	Missense_Mutation	SNP	A	TCGA-HT-A61B-01A-11D-A29Q-08	6481208	146657719	34257541	22	30580											
FAT2	2196	broad.mit.edu	37	5	150947117	150947117	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr5:150947117T>C	ENST00000261800.5	-	1	1388	c.1376A>G	c.(1375-1377)aAc>aGc	p.N459S		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	459	Cadherin 4.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGAAGACCTGTTGAAGAGGGG	0.537													56	91					0	0	1	0	0	C	150947117	T	C	150947117	3	2	325	1	0	0	0	0	1	0	0	0	5723	1725	60	3	11765	3	FAT2	5	150947117	Missense_Mutation	SNP	T	TCGA-HT-A61B-01A-11D-A29Q-08	4289398	150947117	29968143	23	30581											
RUFY1	80230	broad.mit.edu	37	5	178996303	178996303	+	Splice_Site	SNP	C	C	T	rs141995707		TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr5:178996303C>T	ENST00000377001.2	+	5	705	c.705C>T	c.(703-705)agC>agT	p.S235S	RUFY1_ENST00000319449.4_Splice_Site_p.S235S|RUFY1_ENST00000437570.2_Splice_Site_p.S127S|RUFY1_ENST00000393438.2_Splice_Site_p.S127S			Q96T51	RUFY1_HUMAN	RUN and FYVE domain containing 1	235	RUN.				endocytosis|protein transport	early endosome membrane	lipid binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	26	all_cancers(89;0.00018)|all_epithelial(37;8.37e-05)|Renal(175;0.000159)|Lung NSC(126;0.00108)|all_lung(126;0.00195)	all_cancers(40;0.0322)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TCTCTTTCAGCGAGTTCTATG	0.527										HNSCC(44;0.11)			6	173					0	0	1	0	0	T	178996303	C	T	178996303	5	4	325	1	0	0	0	0	0	0	1	0	13790	782	27	1	723	1	RUFY1	5	178996303	Splice_Site	SNP	C	TCGA-HT-A61B-01A-11D-A29Q-08	28049186	178996303	1918957	24	30582											
LRRC16A	55604	broad.mit.edu	37	6	25517626	25517626	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr6:25517626A>G	ENST00000329474.6	+	22	2225	c.1857A>G	c.(1855-1857)atA>atG	p.I619M		NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN	leucine rich repeat containing 16A	619					actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process	cytosol|lamellipodium|nucleus				breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						TTCAGGATATAGCTGTTGCTA	0.313													23	41					0	0	1	0	0	G	25517626	A	G	25517626	3	3	325	1	0	0	0	0	1	0	0	0	9016	410	15	3	1943	3	LRRC16A	6	25517626	Missense_Mutation	SNP	A	TCGA-HT-A61B-01A-11D-A29Q-08		25517626	145597441	25	30583											
SLC17A5	26503	broad.mit.edu	37	6	74331529	74331529	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr6:74331529C>G	ENST00000355773.5	-	7	1244	c.976G>C	c.(976-978)Gag>Cag	p.E326Q	SLC17A5_ENST00000393019.3_3'UTR	NM_012434.4	NP_036566.1	Q9NRA2	S17A5_HUMAN	solute carrier family 17 (acidic sugar transporter), member 5	326					anion transport	integral to plasma membrane|lysosomal membrane|membrane fraction	sialic acid:hydrogen symporter activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TTTCTTACCTCTTGAACATTG	0.308													7	19					0	0	1	0	0	G	74331529	C	G	74331529	3	3	325	1	0	0	0	0	1	0	0	0	14475	922	32	4	531	4	SLC17A5	6	74331529	Missense_Mutation	SNP	C	TCGA-HT-A61B-01A-11D-A29Q-08	48813903	74331529	96783538	26	30584											
FAM188B	84182	broad.mit.edu	37	7	30898919	30898919	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr7:30898919T>C	ENST00000265299.6	+	13	1801	c.1724T>C	c.(1723-1725)aTc>aCc	p.I575T	INMT-FAM188B_ENST00000458257.1_3'UTR|AQP1_ENST00000509504.1_Missense_Mutation_p.I38T|AQP1_ENST00000434909.2_5'UTR	NM_032222.2	NP_115598.2	Q4G0A6	F188B_HUMAN	family with sequence similarity 188, member B	575										endometrium(1)|large_intestine(5)|lung(19)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CTTTCTGCCATCCTGTCCAGG	0.567													16	63					0	0	1	0	0	C	30898919	T	C	30898919	3	2	325	1	0	0	0	0	1	0	0	0	5546	1435	50	3	1774	3	FAM188B	7	30898919	Missense_Mutation	SNP	T	TCGA-HT-A61B-01A-11D-A29Q-08		30898919	128239744	27	30585											
ZAN	7455	broad.mit.edu	37	7	100363082	100363082	+	RNA	SNP	G	G	T			TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr7:100363082G>T	ENST00000542585.1	+	0	4523				ZAN_ENST00000348028.3_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000538115.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			GTGCGTGGAGGCCTGTGAATG	0.612													13	36					0.000151284	0.000153577	1	1	0	T	100363082	G	T	100363082	1	4	325	0	1	0	0	0	0	0	0	0	17573	1203	42	5		5	ZAN	7	100363082	RNA	SNP	G	TCGA-HT-A61B-01A-11D-A29Q-08	69464163	100363082	58775581	28	30586											
NOS3	4846	broad.mit.edu	37	7	150704000	150704000	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr7:150704000G>A	ENST00000297494.3	+	16	2201	c.1844G>A	c.(1843-1845)aGc>aAc	p.S615N	NOS3_ENST00000461406.1_Missense_Mutation_p.S409N	NM_000603.4	NP_000594.2	P29474	NOS3_HUMAN	nitric oxide synthase 3 (endothelial cell)	615	Flavodoxin-like.				anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	caveola|cytoskeleton|cytosol|Golgi membrane	actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)	CGCTTCAACAGCATCTCCTGC	0.607													4	171					0	0	1	0	0	A	150704000	G	A	150704000	3	1	325	1	0	0	0	0	1	0	0	0	10591	971	34	2	2184	2	NOS3	7	150704000	Missense_Mutation	SNP	G	TCGA-HT-A61B-01A-11D-A29Q-08	50340918	150704000	8434663	29	30587											
TG	7038	broad.mit.edu	37	8	134145854	134145854	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr8:134145854C>G	ENST00000220616.4	+	47	8178	c.8138C>G	c.(8137-8139)gCc>gGc	p.A2713G	TG_ENST00000542445.1_Missense_Mutation_p.A1083G|TG_ENST00000519543.1_Missense_Mutation_p.A846G|TG_ENST00000377869.1_Missense_Mutation_p.A2656G	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	2713					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		CTGAAGAAAGCCGACTGCTCC	0.547													11	43					0	0	1	0	0	G	134145854	C	G	134145854	3	3	325	1	0	0	0	0	1	0	0	0	15873	739	26	5	8324	5	TG	8	134145854	Missense_Mutation	SNP	C	TCGA-HT-A61B-01A-11D-A29Q-08		134145854	12218168	30	30588											
ST3GAL1	6482	broad.mit.edu	37	8	134488257	134488257	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr8:134488257A>G	ENST00000319914.5	-	4	1038	c.11T>C	c.(10-12)cTg>cCg	p.L4P	ST3GAL1_ENST00000521180.1_Missense_Mutation_p.L4P|ST3GAL1_ENST00000399640.2_Missense_Mutation_p.L4P|ST3GAL1_ENST00000522652.1_Missense_Mutation_p.L4P			Q11201	SIA4A_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 1	4					protein glycosylation	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,3-sialyltransferase activity			endometrium(3)|large_intestine(2)|lung(11)|prostate(1)	17	all_epithelial(106;1.53e-23)|Lung NSC(106;3.15e-07)|all_lung(105;1.26e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.00721)			CCTCTTCCGCAGGGTCACCAT	0.552													35	70					0	0	1	0	0	G	134488257	A	G	134488257	3	3	325	1	0	0	0	0	1	0	0	0	15270	188	7	3	1035	3	ST3GAL1	8	134488257	Missense_Mutation	SNP	A	TCGA-HT-A61B-01A-11D-A29Q-08	342403	134488257	11875765	31	30589											
GBA2	57704	broad.mit.edu	37	9	35741041	35741041	+	Silent	SNP	T	T	C			TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr9:35741041T>C	ENST00000378094.4	-	5	1320	c.807A>G	c.(805-807)ggA>ggG	p.G269G	GBA2_ENST00000378103.3_Silent_p.G269G|GBA2_ENST00000545786.1_Silent_p.G275G|GBA2_ENST00000467252.1_5'UTR			Q9HCG7	GBA2_HUMAN	glucosidase, beta (bile acid) 2	269					bile acid metabolic process|glucosylceramide catabolic process|O-glycoside catabolic process	integral to membrane|microsome|plasma membrane|smooth endoplasmic reticulum	beta-glucosidase activity|glucosylceramidase activity			NS(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(4)|skin(3)	21	all_epithelial(49;0.167)		Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			ACACAAAGACTCCTACAGGCA	0.567													19	64					0	0	1	0	0	C	35741041	T	C	35741041	2	2	325	1	0	0	0	0	0	0	0	1	6307	1538	54	3		3	GBA2	9	35741041	Silent	SNP	T	TCGA-HT-A61B-01A-11D-A29Q-08		35741041	105472390	32	30590											
TTF1	7270	broad.mit.edu	37	9	135275446	135275446	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr9:135275446G>A	ENST00000334270.2	-	3	1606	c.1567C>T	c.(1567-1569)Cgg>Tgg	p.R523W		NM_001205296.1|NM_007344.3	NP_001192225.1|NP_031370.2	Q15361	TTF1_HUMAN	transcription termination factor, RNA polymerase I	523					negative regulation of DNA replication|regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription	nucleolus|nucleoplasm	DNA binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)		TCCTTAAACCGTTCCAAGTCG	0.468													24	114					0	0	1	0	0	A	135275446	G	A	135275446	3	1	325	1	0	0	0	0	1	0	0	0	16780	1144	40	1	1186	1	TTF1	9	135275446	Missense_Mutation	SNP	G	TCGA-HT-A61B-01A-11D-A29Q-08	99534405	135275446	5937985	33	30591											
HNRNPF	3185	broad.mit.edu	37	10	43882166	43882166	+	Silent	SNP	G	G	A			TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr10:43882166G>A	ENST00000443950.2	-	3	1653	c.1167C>T	c.(1165-1167)taC>taT	p.Y389Y	HNRNPF_ENST00000544000.1_Silent_p.Y389Y|HNRNPF_ENST00000356053.3_Silent_p.Y389Y|HNRNPF_ENST00000337970.3_Silent_p.Y389Y|HNRNPF_ENST00000357065.4_Silent_p.Y389Y	NM_001098208.1	NP_001091678.1	P52597	HNRPF_HUMAN	heterogeneous nuclear ribonucleoprotein F	389					regulation of RNA splicing	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding	p.Y389Y(4)		breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|urinary_tract(1)	19						CCAGGCCACTGTAAGTGGCCT	0.537													113	141					0	0	1	0	0	A	43882166	G	A	43882166	2	1	325	1	0	0	0	0	0	0	0	1	7306	1372	48	2		2	HNRNPF	10	43882166	Silent	SNP	G	TCGA-HT-A61B-01A-11D-A29Q-08		43882166	91652581	34	30592											
PAX2	5076	broad.mit.edu	37	10	102541110	102541110	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr10:102541110A>G	ENST00000370296.2	+	5	1154	c.604A>G	c.(604-606)Aaa>Gaa	p.K202E	PAX2_ENST00000355243.3_Missense_Mutation_p.K202E|PAX2_ENST00000428433.1_Missense_Mutation_p.K202E|PAX2_ENST00000556085.1_Missense_Mutation_p.K201E|PAX2_ENST00000361791.3_Missense_Mutation_p.K202E|PAX2_ENST00000553492.1_3'UTR			Q02962	PAX2_HUMAN	paired box 2	202					anti-apoptosis|axonogenesis|brain morphogenesis|branching involved in ureteric bud morphogenesis|cell fate determination|cellular response to glucose stimulus|cellular response to hydrogen peroxide|cellular response to retinoic acid|cochlea development|glial cell differentiation|inner ear morphogenesis|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesodermal cell fate specification|mesonephros development|metanephric collecting duct development|metanephric distal convoluted tubule development|metanephric mesenchymal cell differentiation|metanephric nephron tubule formation|negative regulation of caspase activity|negative regulation of cytolysis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|negative regulation of reactive oxygen species metabolic process|negative regulation of transcription, DNA-dependent|nephric duct formation|neural tube closure|optic chiasma development|optic cup morphogenesis involved in camera-type eye development|optic nerve structural organization|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of metanephric glomerulus development|positive regulation of optic nerve formation|positive regulation of transcription from RNA polymerase II promoter|pronephric field specification|protein kinase B signaling cascade|reactive oxygen species metabolic process|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of metanephros size|retinal pigment epithelium development|stem cell differentiation|transcription from RNA polymerase II promoter|ureter maturation|vestibulocochlear nerve formation|visual perception	centriolar satellite|nucleus|protein complex|protein-DNA complex	core promoter proximal region sequence-specific DNA binding|superoxide-generating NADPH oxidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	18		Colorectal(252;0.234)		Epithelial(162;1.32e-08)|all cancers(201;7.32e-07)		TGAGAAGAGGAAACGTGATGA	0.587													26	178					0	0	1	0	0	G	102541110	A	G	102541110	3	3	325	1	0	0	0	0	1	0	0	0	11526	247	9	3	622	3	PAX2	10	102541110	Missense_Mutation	SNP	A	TCGA-HT-A61B-01A-11D-A29Q-08	58658944	102541110	32993637	35	30593											
PWWP2B	170394	broad.mit.edu	37	10	134219372	134219372	+	Silent	SNP	G	G	A			TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr10:134219372G>A	ENST00000305233.5	+	2	1427	c.1368G>A	c.(1366-1368)tcG>tcA	p.S456S	PWWP2B_ENST00000368609.4_Silent_p.S456S	NM_138499.3	NP_612508.3	Q6NUJ5	PWP2B_HUMAN	PWWP domain containing 2B	456										central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|urinary_tract(1)	9		all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224)		OV - Ovarian serous cystadenocarcinoma(35;7.49e-05)|Epithelial(32;0.00016)|all cancers(32;0.000186)		CAGCGCCCTCGGTGTCCAGAG	0.701													34	58					0	0	1	0	0	A	134219372	G	A	134219372	2	1	325	1	0	0	0	0	0	0	0	1	12898	1103	39	1		1	PWWP2B	10	134219372	Silent	SNP	G	TCGA-HT-A61B-01A-11D-A29Q-08	31678262	134219372	1315375	36	30594											
OR51Q1	390061	broad.mit.edu	37	11	5444223	5444223	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr11:5444223C>T	ENST00000300778.4	+	1	883	c.793C>T	c.(793-795)Cgc>Tgc	p.R265C	HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron	NM_001004757.2	NP_001004757.1	Q8NH59	O51Q1_HUMAN	olfactory receptor, family 51, subfamily Q, member 1 (gene/pseudogene)	265					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(2)|large_intestine(3)|liver(2)|lung(21)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	37		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TATGACTCATCGCTTTGCCAA	0.517													26	47					0	0	1	0	0	T	5444223	C	T	5444223	3	4	325	1	0	0	0	0	1	0	0	0	11152	884	31	1	795	1	OR51Q1	11	5444223	Missense_Mutation	SNP	C	TCGA-HT-A61B-01A-11D-A29Q-08		5444223	129562293	37	30595											
FLRT1	23769	broad.mit.edu	37	11	63884997	63884997	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr11:63884997C>T	ENST00000246841.3	+	2	2301	c.1258C>T	c.(1258-1260)Cgc>Tgc	p.R420C	MACROD1_ENST00000255681.6_Intron	NM_013280.4	NP_037412.2	Q9NZU1	FLRT1_HUMAN	fibronectin leucine rich transmembrane protein 1	392	Fibronectin type-III.				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			breast(1)|endometrium(3)|large_intestine(6)|lung(2)|prostate(1)|urinary_tract(1)	14						GCCAGGGCTGCGCCTCCCCGA	0.652													5	26					0	0	1	0	0	T	63884997	C	T	63884997	3	4	325	1	0	0	0	0	1	0	0	0	5971	768	27	1	1260	1	FLRT1	11	63884997	Missense_Mutation	SNP	C	TCGA-HT-A61B-01A-11D-A29Q-08	58440774	63884997	71121519	38	30596											
STK38L	23012	broad.mit.edu	37	12	27467498	27467498	+	Silent	SNP	C	C	T			TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr12:27467498C>T	ENST00000389032.3	+	7	748	c.579C>T	c.(577-579)taC>taT	p.Y193Y	STK38L_ENST00000539577.1_Silent_p.Y100Y	NM_015000.3	NP_055815.1	Q9Y2H1	ST38L_HUMAN	serine/threonine kinase 38 like	193	Protein kinase.				intracellular protein kinase cascade|regulation of cellular component organization	actin cytoskeleton|cytoplasm	actin binding|ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)	12	Colorectal(261;0.0847)					CACAGTTCTACATTTCAGAGA	0.383													9	43					0	0	1	0	0	T	27467498	C	T	27467498	2	4	325	1	0	0	0	0	0	0	0	1	15360	489	17	2		2	STK38L	12	27467498	Silent	SNP	C	TCGA-HT-A61B-01A-11D-A29Q-08		27467498	106384397	39	30597											
TMEM132B	114795	broad.mit.edu	37	12	126135302	126135302	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr12:126135302G>A	ENST00000299308.3	+	7	1710	c.1702G>A	c.(1702-1704)Gcc>Acc	p.A568T	TMEM132B_ENST00000535886.1_Missense_Mutation_p.A80T	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	568						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		GTACCAGCACGCCACAGTGCG	0.587													9	67					0	0	1	0	0	A	126135302	G	A	126135302	3	1	325	1	0	0	0	0	1	0	0	0	16106	1087	38	1	1728	1	TMEM132B	12	126135302	Missense_Mutation	SNP	G	TCGA-HT-A61B-01A-11D-A29Q-08	98667804	126135302	7716593	40	30598											
EAPP	55837	broad.mit.edu	37	14	35008834	35008834	+	Translation_Start_Site	SNP	T	T	C			TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr14:35008834T>C	ENST00000250454.3	-	1	82	c.1A>G	c.(1-3)Atg>Gtg	p.M1V		NM_018453.3	NP_060923.2	Q56P03	EAPP_HUMAN	E2F-associated phosphoprotein	1					negative regulation of transcription elongation from RNA polymerase II promoter|positive regulation of cell proliferation|positive regulation of transcription elongation from RNA polymerase II promoter	Golgi apparatus|nucleus|plasma membrane				breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2)	12	Breast(36;0.0473)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00342)|Epithelial(34;0.18)	GBM - Glioblastoma multiforme(112;0.0196)		AGCCGGTTCATGGTGGCCTGC	0.637													16	55					0	0	1	0	0	C	35008834	T	C	35008834	1	2	325	1	0	0	0	0	0	0	0	0	4903	1464	51	3		3	EAPP	14	35008834	Translation_Start_Site	SNP	T	TCGA-HT-A61B-01A-11D-A29Q-08		35008834	72340706	41	30599											
INF2	64423	broad.mit.edu	37	14	105174270	105174271	+	Frame_Shift_Ins	INS	-	-	G			TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr14:105174270_105174271insG	ENST00000392634.4	+	8	1778_1779	c.1666_1667insG	c.(1666-1668)cggfs	p.R556fs	INF2_ENST00000330634.7_Frame_Shift_Ins_p.R556fs	NM_022489.3	NP_071934.3	Q27J81	INF2_HUMAN	inverted formin, FH2 and WH2 domain containing	556	FH2.				actin cytoskeleton organization	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm	actin binding|Rho GTPase binding			large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)		CAGCCATCGGCGGGTGAACCCA	0.663													11	127	---	---	---	---						G	105174271	-	G	105174270	7	5	325	1	0	1	1	0	0	0	0	0	7778	759	27	0	1696	0	INF2	14	105174270	Frame_Shift_Ins	INS	-	TCGA-HT-A61B-01A-11D-A29Q-08	70165436	105174270	2175270	42	30600											
GSPT1	2935	broad.mit.edu	37	16	11981588	11981589	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr16:11981588_11981589insT	ENST00000434724.2	-	7	994_995	c.795_796insA	c.(793-798)ttagacfs	p.D266fs	GSPT1_ENST00000439887.2_Frame_Shift_Ins_p.D265fs|RP11-166B2.8_ENST00000574364.1_RNA|GSPT1_ENST00000563468.1_Frame_Shift_Ins_p.D128fs|GSPT1_ENST00000420576.2_Frame_Shift_Ins_p.D128fs	NM_001130006.1|NM_002094.3	NP_001123478.1|NP_002085	P15170	ERF3A_HUMAN	G1 to S phase transition 1	128					G1/S transition of mitotic cell cycle|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|protein methylation	intracellular	GTP binding|GTPase activity|protein binding|translation release factor activity			breast(1)|central_nervous_system(1)|kidney(4)|lung(4)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	14						TGATTTGTGTCTAAGGCCCAAG	0.356													33	100	---	---	---	---						T	11981589	-	T	11981588	7	5	325	1	0	1	1	0	0	0	0	0	6867	913	32	0	1153	0	GSPT1	16	11981588	Frame_Shift_Ins	INS	-	TCGA-HT-A61B-01A-11D-A29Q-08		11981588	78373165	43	30601											
SRCAP	10847	broad.mit.edu	37	16	30736149	30736149	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr16:30736149G>A	ENST00000262518.4	+	25	5789	c.5404G>A	c.(5404-5406)Gca>Aca	p.A1802T	SRCAP_ENST00000344771.4_Missense_Mutation_p.A1644T|SRCAP_ENST00000395059.2_Missense_Mutation_p.A1740T	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	1802	Pro-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			gggcccggccgcagctcagac	0.637													4	72					0	0	1	0	0	A	30736149	G	A	30736149	3	1	325	1	0	0	0	0	1	0	0	0	15191	1087	38	1	5494	1	SRCAP	16	30736149	Missense_Mutation	SNP	G	TCGA-HT-A61B-01A-11D-A29Q-08	18754561	30736149	59618604	44	30602											
SPG7	6687	broad.mit.edu	37	16	89620236	89620236	+	Silent	SNP	C	C	T	rs140356355		TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr16:89620236C>T	ENST00000268704.2	+	15	1986	c.1971C>T	c.(1969-1971)atC>atT	p.I657I		NM_003119.2	NP_003110.1	Q9UQ90	SPG7_HUMAN	spastic paraplegia 7 (pure and complicated autosomal recessive)	657					cell death|nervous system development|protein catabolic process|proteolysis	integral to membrane|mitochondrial membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|urinary_tract(1)	20		all_hematologic(23;0.00824)|Colorectal(91;0.102)		all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015)		TCACCCGCATCGCCTACTCCA	0.677													34	115					0	0	1	0	0	T	89620236	C	T	89620236	2	4	325	1	0	0	0	0	0	0	0	1	15100	874	31	1		1	SPG7	16	89620236	Silent	SNP	C	TCGA-HT-A61B-01A-11D-A29Q-08	58884087	89620236	734517	45	30603											
TP53	7157	broad.mit.edu	37	17	7578190	7578190	+	Missense_Mutation	SNP	T	T	C	rs121912666		TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr17:7578190T>C	ENST00000420246.2	-	6	791	c.659A>G	c.(658-660)tAt>tGt	p.Y220C	TP53_ENST00000574684.1_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.Y220C|TP53_ENST00000269305.4_Missense_Mutation_p.Y220C|TP53_ENST00000359597.4_Missense_Mutation_p.Y220C|TP53_ENST00000445888.2_Missense_Mutation_p.Y220C|TP53_ENST00000413465.2_Missense_Mutation_p.Y220C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	220	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 a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.Y220C(278)|p.Y127C(24)|p.Y220S(12)|p.?(11)|p.0?(8)|p.D208fs*1(1)|p.Y220_P223delYEPP(1)|p.V218_E224delVPYEPPE(1)|p.V218_E221delVPYE(1)|p.Y127S(1)|p.V218_Y220delVPY(1)|p.Y220fs*25(1)|p.V216_Y220delVVVPY(1)|p.Y220fs*2(1)|p.V218fs*26(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)		AGGCGGCTCATAGGGCACCAC	0.557		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)			45	5					0	0	1	0	0	C	7578190	T	C	7578190	3	2	325	1	0	0	0	0	1	0	0	0	16442	1406	49	3	635	3	TP53	17	7578190	Missense_Mutation	SNP	T	TCGA-HT-A61B-01A-11D-A29Q-08		7578190	73617020	46	30604											
ELP2	55250	broad.mit.edu	37	18	33738840	33738840	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr18:33738840G>T	ENST00000358232.6	+	14	1570	c.1507G>T	c.(1507-1509)Gga>Tga	p.G503*	ELP2_ENST00000351393.6_Nonsense_Mutation_p.G477*|ELP2_ENST00000423854.2_Nonsense_Mutation_p.G433*|ELP2_ENST00000542050.1_3'UTR|ELP2_ENST00000350494.6_Nonsense_Mutation_p.G498*|ELP2_ENST00000542824.1_Nonsense_Mutation_p.G433*|ELP2_ENST00000442325.2_Nonsense_Mutation_p.G568*	NM_018255.2	NP_060725.1	Q6IA86	ELP2_HUMAN	elongator acetyltransferase complex subunit 2	503					regulation of transcription from RNA polymerase II promoter	Golgi apparatus|transcription elongation factor complex				NS(1)|breast(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|urinary_tract(2)	30						CCCTGCATTGGGATTATCAAA	0.333													23	20					9.80776e-20	1.04305e-19	1	1	0	T	33738840	G	T	33738840	4	4	325	1	0	0	0	0	0	1	0	0	5108	1233	43	5	1561	5	ELP2	18	33738840	Nonsense_Mutation	SNP	G	TCGA-HT-A61B-01A-11D-A29Q-08		33738840	44338408	47	30605											
ZNF560	147741	broad.mit.edu	37	19	9577986	9577986	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr19:9577986C>T	ENST00000301480.4	-	10	1850	c.1637G>A	c.(1636-1638)tGt>tAt	p.C546Y		NM_152476.2	NP_689689.2	Q96MR9	ZN560_HUMAN	zinc finger protein 560	546					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						ACATTTCTTACATTGATAGAG	0.398													58	72					0	0	1	0	0	T	9577986	C	T	9577986	3	4	325	1	0	0	0	0	1	0	0	0	18048	478	17	2	739	2	ZNF560	19	9577986	Missense_Mutation	SNP	C	TCGA-HT-A61B-01A-11D-A29Q-08		9577986	49550997	48	30606											
PPAN-P2RY11	692312	broad.mit.edu	37	19	10220614	10220614	+	Missense_Mutation	SNP	G	G	A	rs149200523	byFrequency	TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr19:10220614G>A	ENST00000428358.1	+	7	788	c.616G>A	c.(616-618)Gcg>Acg	p.A206T	PPAN_ENST00000393793.1_Missense_Mutation_p.A153T|PPAN_ENST00000253107.7_Missense_Mutation_p.A206T|PPAN_ENST00000556468.1_Missense_Mutation_p.A206T|PPAN-P2RY11_ENST00000393796.4_Missense_Mutation_p.A206T	NM_001040664.2|NM_001198690.1	NP_001035754.1|NP_001185619.1	Q9NQ55	SSF1_HUMAN		206	Brix.				RNA splicing	nucleolus	protein binding			breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	31			OV - Ovarian serous cystadenocarcinoma(20;2.19e-08)|Epithelial(33;1.76e-05)|all cancers(31;3.54e-05)			TCCTGTGGGCGCGAGTCGCGG	0.627													7	280					0	0	1	0	0	A	10220614	G	A	10220614	3	1	325	1	0	0	0	0	1	0	0	0	12334	1087	38	1	642	1	PPAN-P2RY11	19	10220614	Missense_Mutation	SNP	G	TCGA-HT-A61B-01A-11D-A29Q-08	642628	10220614	48908369	49	30607											
IL12RB1	3594	broad.mit.edu	37	19	18184406	18184406	+	Missense_Mutation	SNP	T	T	G			TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr19:18184406T>G	ENST00000600835.2	-	9	1002	c.704A>C	c.(703-705)aAc>aCc	p.N235T	IL12RB1_ENST00000593993.2_Missense_Mutation_p.N235T|IL12RB1_ENST00000322153.7_Missense_Mutation_p.N235T			P42701	I12R1_HUMAN	interleukin 12 receptor, beta 1		Fibronectin type-III 2.				cellular response to interferon-gamma|interleukin-12-mediated signaling pathway|positive regulation of activated T cell proliferation|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response	interleukin-12 receptor complex|interleukin-23 receptor complex	cytokine receptor activity			endometrium(1)|kidney(1)|lung(3)|pancreas(1)|skin(2)	8						CTGTGGGGGGTTTTCTGCAAT	0.512													7	28					0	0	1	0	0	G	18184406	T	G	18184406	3	3	325	1	0	0	0	0	1	0	0	0	7670	1725	60	5	1453	5	IL12RB1	19	18184406	Missense_Mutation	SNP	T	TCGA-HT-A61B-01A-11D-A29Q-08	7963792	18184406	40944577	50	30608											
ATP4A	495	broad.mit.edu	37	19	36049963	36049963	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr19:36049963C>T	ENST00000262623.3	-	8	1215	c.1187G>A	c.(1186-1188)cGc>cAc	p.R396H		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	396					ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)	CACAGTCATGCGGTTCTGAGT	0.592													5	244					0	0	1	0	0	T	36049963	C	T	36049963	3	4	325	1	0	0	0	0	1	0	0	0	1144	768	27	1	1980	1	ATP4A	19	36049963	Missense_Mutation	SNP	C	TCGA-HT-A61B-01A-11D-A29Q-08	17865557	36049963	23079020	51	30609											
KIR2DL3	3804	broad.mit.edu	37	19	55255285	55255285	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr19:55255285C>T	ENST00000342376.3	+	4	444	c.413C>T	c.(412-414)aCg>aTg	p.T138M	KIR3DL1_ENST00000538269.1_Intron|KIR3DL1_ENST00000402254.2_Intron|KIR3DL1_ENST00000541392.1_Intron|CTB-61M7.1_ENST00000400864.3_RNA|KIR2DL3_ENST00000434419.2_Missense_Mutation_p.T138M|KIR2DL4_ENST00000396284.2_Intron	NM_015868.2	NP_056952.2			killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 3											breast(1)|cervix(1)|large_intestine(1)|lung(11)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1)	21				GBM - Glioblastoma multiforme(193;0.0192)		CCGGGCCCCACGGTTCTGGCA	0.567													30	13					0	0	1	0	0	T	55255285	C	T	55255285	3	4	325	1	0	0	0	0	1	0	0	0	8360	536	19	1	427	1	KIR2DL3	19	55255285	Missense_Mutation	SNP	C	TCGA-HT-A61B-01A-11D-A29Q-08	19205322	55255285	3873698	52	30610											
AMMECR1	9949	broad.mit.edu	37	X	109561058	109561060	+	In_Frame_Del	DEL	CCG	CCG	-			TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chrX:109561058_109561060delCCG	ENST00000262844.5	-	1	407_409	c.240_242delCGG	c.(238-243)ggcggg>ggg	p.80_81GG>G	AMMECR1_ENST00000372059.2_In_Frame_Del_p.80_81GG>G|AMMECR1_ENST00000372057.1_5'UTR	NM_015365.2	NP_056180.1	Q9Y4X0	AMER1_HUMAN	Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1	80	Gly/Ser-rich.									large_intestine(1)|lung(4)|ovary(1)|stomach(1)	7						GGCGATCCCCCCGCCGCCGCCGC	0.734													2	4	---	---	---	---						-	109561060	CCG	-	109561058	7	5	325	1	0	1	0	1	0	0	0	0	574	623	22	0	783	0	AMMECR1	23	109561058	In_Frame_Del	DEL	CCG	TCGA-HT-A61B-01A-11D-A29Q-08		109561058	45709502	53	30611											
CUL4B	8450	broad.mit.edu	37	X	119694140	119694140	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chrX:119694140C>G	ENST00000371322.5	-	1	415	c.354G>C	c.(352-354)gaG>gaC	p.E118D	CUL4B_ENST00000404115.3_Missense_Mutation_p.E136D|CUL4B_ENST00000336592.6_Missense_Mutation_p.E123D	NM_001079872.1	NP_001073341.1	Q13620	CUL4B_HUMAN	cullin 4B	136	Ser-rich.				cell cycle|DNA repair|ubiquitin-dependent protein catabolic process	Cul4B-RING ubiquitin ligase complex|nucleus	protein binding|ubiquitin protein ligase binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						aggaggaTTCCTCAGCCATCT	0.488													10	32					0	0	1	0	0	G	119694140	C	G	119694140	3	3	325	1	0	0	0	0	1	0	0	0	4081	680	24	4	2413	4	CUL4B	23	119694140	Missense_Mutation	SNP	C	TCGA-HT-A61B-01A-11D-A29Q-08	10133082	119694140	35576420	54	30612											
IGFN1	91156	broad.mit.edu	37	1	201186507	201186507	+	Missense_Mutation	SNP	G	G	A	rs146376343		TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr1:201186507G>A	ENST00000335211.4	+	17	9818	c.9688G>A	c.(9688-9690)Gcc>Acc	p.A3230T	IGFN1_ENST00000295591.8_Missense_Mutation_p.A390T	NM_001164586.1	NP_001158058.1			immunoglobulin-like and fibronectin type III domain containing 1											autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						CCCCGGCAGCGCCCACATCCT	0.662													71	83					0	0	1	0	0	A	201186507	G	A	201186507	3	1	326	1	0	0	0	0	1	0	0	0	7634	1087	38	1	9750	1	IGFN1	1	201186507	Missense_Mutation	SNP	G	TCGA-HT-A61C-01A-11D-A29Q-08		201186507	48064114	1	30613											
CR2	1380	broad.mit.edu	37	1	207640156	207640156	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr1:207640156C>T	ENST00000367057.3	+	2	533	c.344C>T	c.(343-345)aCa>aTa	p.T115I	CR2_ENST00000458541.2_Missense_Mutation_p.T115I|CR2_ENST00000367058.3_Missense_Mutation_p.T115I|CR2_ENST00000367059.3_Missense_Mutation_p.T115I	NM_001006658.2	NP_001006659.1	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	115	Sushi 2.				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						GATTCTGTGACATTTGCCTGT	0.423													25	52					0	0	1	0	0	T	207640156	C	T	207640156	3	4	326	1	0	0	0	0	1	0	0	0	3865	478	17	2	350	2	CR2	1	207640156	Missense_Mutation	SNP	C	TCGA-HT-A61C-01A-11D-A29Q-08	6453649	207640156	41610465	2	30614											
EXOC8	149371	broad.mit.edu	37	1	231472849	231472851	+	In_Frame_Del	DEL	CCA	CCA	-	rs142526535		TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr1:231472849_231472851delCCA	ENST00000366645.1	-	1	747_749	c.629_631delTGG	c.(628-633)gtggct>gct	p.V210del	SPRTN_ENST00000391858.4_5'UTR|EXOC8_ENST00000360394.2_In_Frame_Del_p.V214del			Q8IYI6	EXOC8_HUMAN	exocyst complex component 8	214	PH.				exocytosis|protein transport	growth cone|nucleus	protein binding			cervix(2)|endometrium(1)|large_intestine(2)|liver(1)|lung(5)|prostate(1)|skin(1)|stomach(1)	14	Breast(184;0.0871)	all_cancers(173;0.151)|Prostate(94;0.183)				AGCCAGGTAGCCACCAACAAGCA	0.547													43	73	---	---	---	---						-	231472851	CCA	-	231472849	7	5	326	1	0	1	0	1	0	0	0	0	5338	739	26	0	1538	0	EXOC8	1	231472849	In_Frame_Del	DEL	CCA	TCGA-HT-A61C-01A-11D-A29Q-08	23832693	231472849	17777772	3	30615											
HEATR5B	54497	broad.mit.edu	37	2	37289163	37289163	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr2:37289163G>A	ENST00000233099.5	-	11	1710	c.1615C>T	c.(1615-1617)Cga>Tga	p.R539*	HEATR5B_ENST00000354531.2_Nonsense_Mutation_p.R539*	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	539							binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				GCAGCAGTTCGTAAAAGATCT	0.348													30	51					0	0	1	0	0	A	37289163	G	A	37289163	4	1	326	1	0	0	0	0	0	1	0	0	7073	1153	40	1	4704	1	HEATR5B	2	37289163	Nonsense_Mutation	SNP	G	TCGA-HT-A61C-01A-11D-A29Q-08		37289163	205910210	4	30616											
SPRED2	200734	broad.mit.edu	37	2	65541089	65541089	+	Missense_Mutation	SNP	T	T	G			TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr2:65541089T>G	ENST00000356388.4	-	6	992	c.803A>C	c.(802-804)tAc>tCc	p.Y268S	SPRED2_ENST00000443619.2_Missense_Mutation_p.Y265S	NM_181784.2	NP_861449.2	Q7Z698	SPRE2_HUMAN	sprouty-related, EVH1 domain containing 2	268					inactivation of MAPK activity|multicellular organismal development	transport vesicle membrane	stem cell factor receptor binding			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(7)|ovary(2)|upper_aerodigestive_tract(3)	34						GGAGTCCACGTAGGGGTAGTT	0.677													55	96					0	0	1	0	0	G	65541089	T	G	65541089	3	3	326	1	0	0	0	0	1	0	0	0	15149	1638	57	5	457	5	SPRED2	2	65541089	Missense_Mutation	SNP	T	TCGA-HT-A61C-01A-11D-A29Q-08	28251926	65541089	177658284	5	30617											
MYO7B	4648	broad.mit.edu	37	2	128384765	128384765	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr2:128384765G>A	ENST00000389524.4	+	32	4315	c.4262G>A	c.(4261-4263)cGc>cAc	p.R1421H	MYO7B_ENST00000428314.1_Missense_Mutation_p.R1421H|MYO7B_ENST00000409816.2_Missense_Mutation_p.R1421H|MYO7B_ENST00000409090.1_Missense_Mutation_p.R274H			Q6PIF6	MYO7B_HUMAN	myosin VIIB	1421	FERM 1.					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		CCAGGCCCCCGCCTGCCCAAG	0.617													6	13					0	0	1	0	0	A	128384765	G	A	128384765	3	1	326	1	0	0	0	0	1	0	0	0	10131	1087	38	1	4384	1	MYO7B	2	128384765	Missense_Mutation	SNP	G	TCGA-HT-A61C-01A-11D-A29Q-08	62843676	128384765	114814608	6	30618											
TTN	7273	broad.mit.edu	37	2	179468882	179468882	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr2:179468882G>A	ENST00000589042.1	-	282	54756	c.54532C>T	c.(54532-54534)Cgc>Tgc	p.R18178C	TTN_ENST00000460472.2_Missense_Mutation_p.R9113C|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R9238C|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R16537C|TTN_ENST00000342992.6_Missense_Mutation_p.R15610C|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R9305C|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000419746.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	16537	Ig-like 105.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.R9113C(1)|p.R9238C(1)|p.R9305C(1)|p.R15610C(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCTTTGGTGCGTGCCAAAACT	0.453													47	80					0	0	1	0	0	A	179468882	G	A	179468882	3	1	326	1	0	0	0	0	1	0	0	0	16797	1145	40	1	53485	1	TTN	2	179468882	Missense_Mutation	SNP	G	TCGA-HT-A61C-01A-11D-A29Q-08	51084117	179468882	63730491	7	30619											
COL3A1	1281	broad.mit.edu	37	2	189873767	189873767	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr2:189873767G>A	ENST00000304636.3	+	48	3813	c.3643G>A	c.(3643-3645)Ggt>Agt	p.G1215S	COL3A1_ENST00000317840.5_Missense_Mutation_p.G912S	NM_000090.3	NP_000081	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	1215					axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	AAAAGCTGGCGGTTTTGCCCC	0.507													4	110					0	0	1	0	0	A	189873767	G	A	189873767	3	1	326	1	0	0	0	0	1	0	0	0	3711	1116	39	1	3833	1	COL3A1	2	189873767	Missense_Mutation	SNP	G	TCGA-HT-A61C-01A-11D-A29Q-08	10404885	189873767	53325606	8	30620											
NAB1	4664	broad.mit.edu	37	2	191537858	191537858	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr2:191537858C>G	ENST00000337386.5	+	6	1446	c.985C>G	c.(985-987)Cca>Gca	p.P329A	NAB1_ENST00000409641.1_Missense_Mutation_p.P329A|NAB1_ENST00000484774.1_Intron|NAB1_ENST00000545490.1_Missense_Mutation_p.P99A|NAB1_ENST00000357215.5_Missense_Mutation_p.P329A|NAB1_ENST00000409581.1_Missense_Mutation_p.P329A	NM_005966.3	NP_005957.2	Q13506	NAB1_HUMAN	NGFI-A binding protein 1 (EGR1 binding protein 1)	329	Necessary for nuclear localization (By similarity).				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				kidney(2)|large_intestine(2)|lung(1)|prostate(1)|skin(1)	7			OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0405)|all cancers(119;0.109)			TGAATTATCCCCAAAGAGAAT	0.318													10	22					0	0	1	0	0	G	191537858	C	G	191537858	3	3	326	1	0	0	0	0	1	0	0	0	10179	623	22	5	995	5	NAB1	2	191537858	Missense_Mutation	SNP	C	TCGA-HT-A61C-01A-11D-A29Q-08	1664091	191537858	51661515	9	30621											
TRANK1	9881	broad.mit.edu	37	3	36875111	36875111	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr3:36875111T>C	ENST00000301807.6	-	21	6078	c.4181A>G	c.(4180-4182)cAg>cGg	p.Q1394R	TRANK1_ENST00000429976.2_Missense_Mutation_p.Q1944R|TRANK1_ENST00000428977.2_Missense_Mutation_p.Q1394R			O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	1944					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						ACATGAGGCCTGGAAGTCCTT	0.572													12	22					0	0	1	0	0	C	36875111	T	C	36875111	3	2	326	1	0	0	0	0	1	0	0	0	16515	1580	55	3	2958	3	TRANK1	3	36875111	Missense_Mutation	SNP	T	TCGA-HT-A61C-01A-11D-A29Q-08		36875111	161147319	10	30622											
KCNMB2	10242	broad.mit.edu	37	3	178543531	178543531	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr3:178543531G>A	ENST00000432997.1	+	3	564	c.212G>A	c.(211-213)cGc>cAc	p.R71H	KCNMB2_ENST00000358316.3_Missense_Mutation_p.R71H|RP11-385J1.2_ENST00000425330.1_RNA|KCNMB2_ENST00000420517.2_Missense_Mutation_p.R71H|RP11-385J1.2_ENST00000432385.1_RNA|KCNMB2_ENST00000452583.1_Missense_Mutation_p.R71H|RP11-385J1.2_ENST00000451742.1_RNA|RP11-385J1.2_ENST00000437488.1_RNA	NM_001278911.1	NP_001265840.1	Q9Y691	KCMB2_HUMAN	potassium large conductance calcium-activated channel, subfamily M, beta member 2	71					detection of calcium ion|platelet activation|regulation of action potential in neuron|regulation of vasoconstriction	voltage-gated potassium channel complex	calcium-activated potassium channel activity|ion channel inhibitor activity|potassium channel regulator activity			NS(2)|endometrium(4)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	12	all_cancers(143;5.38e-18)|Ovarian(172;0.00769)|Breast(254;0.125)		OV - Ovarian serous cystadenocarcinoma(80;1.32e-27)|GBM - Glioblastoma multiforme(14;0.0321)|BRCA - Breast invasive adenocarcinoma(182;0.0841)			ACACTCCTGCGCTCATACATG	0.532													74	120					0	0	1	0	0	A	178543531	G	A	178543531	3	1	326	1	0	0	0	0	1	0	0	0	8119	1087	38	1	218	1	KCNMB2	3	178543531	Missense_Mutation	SNP	G	TCGA-HT-A61C-01A-11D-A29Q-08	141668420	178543531	19478899	11	30623											
SLIT2	9353	broad.mit.edu	37	4	20525656	20525659	+	Frame_Shift_Del	DEL	TTTA	TTTA	-			TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr4:20525656_20525659delTTTA	ENST00000504154.1	+	14	1546_1549	c.1294_1297delTTTA	c.(1294-1299)tttattfs	p.FI432fs	SLIT2_ENST00000503823.1_Frame_Shift_Del_p.FI432fs|SLIT2_ENST00000503837.1_Frame_Shift_Del_p.FI436fs|SLIT2_ENST00000273739.5_Frame_Shift_Del_p.FI436fs	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	432	LRRCT 2.				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						CCAGAACCCCTTTATTTGTGACTG	0.485													59	111	---	---	---	---						-	20525659	TTTA	-	20525656	7	5	326	1	0	1	0	1	0	0	0	0	14794	1609	56	0	1348	0	SLIT2	4	20525656	Frame_Shift_Del	DEL	TTTA	TCGA-HT-A61C-01A-11D-A29Q-08		20525656	170628620	12	30624											
RFC1	5981	broad.mit.edu	37	4	39325012	39325014	+	In_Frame_Del	DEL	TCA	TCA	-			TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr4:39325012_39325014delTCA	ENST00000381897.1	-	7	799_801	c.666_668delTGA	c.(664-669)gatgaa>gaa	p.D222del	RFC1_ENST00000418436.1_5'UTR|RFC1_ENST00000349703.2_In_Frame_Del_p.D222del	NM_001204747.1|NM_002913.4	NP_001191676.1|NP_002904.3	P35251	RFC1_HUMAN	replication factor C (activator 1) 1, 145kDa	222					DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|telomere maintenance via telomerase|transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|enzyme activator activity|protein binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						GGCAAACTCTTCATCTTCATGCA	0.379													16	36	---	---	---	---						-	39325014	TCA	-	39325012	7	5	326	1	0	1	0	1	0	0	0	0	13296	1783	62	0	2851	0	RFC1	4	39325012	In_Frame_Del	DEL	TCA	TCGA-HT-A61C-01A-11D-A29Q-08	18799356	39325012	151829264	13	30625											
UGT2B11	10720	broad.mit.edu	37	4	70070287	70070287	+	Missense_Mutation	SNP	C	C	A	rs113129893		TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr4:70070287C>A	ENST00000446444.1	-	5	1179	c.1171G>T	c.(1171-1173)Gtg>Ttg	p.V391L	RP11-704M14.1_ENST00000504301.1_RNA|RP11-704M14.1_ENST00000505646.1_RNA	NM_001073.1	NP_001064.1	O75310	UDB11_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B11	391					estrogen metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	42						GGAATGCCCACCATAGGGATC	0.428													13	136					6.72482e-11	7.20517e-11	1	1	0	A	70070287	C	A	70070287	3	1	326	1	0	0	0	0	1	0	0	0	17017	507	18	5	426	5	UGT2B11	4	70070287	Missense_Mutation	SNP	C	TCGA-HT-A61C-01A-11D-A29Q-08	30745275	70070287	121083989	14	30626											
PROL1	58503	broad.mit.edu	37	4	71275670	71275670	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr4:71275670G>A	ENST00000399575.2	+	3	799	c.625G>A	c.(625-627)Gcc>Acc	p.A209T		NM_021225.4	NP_067048.4	Q99935	PROL1_HUMAN	proline rich, lacrimal 1	209	Thr-rich.				regulation of sensory perception of pain	extracellular region	endopeptidase inhibitor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)	15		all_hematologic(202;0.196)				TCAAATTCTCGCCAACCGTCC	0.463													39	87					0	0	1	0	0	A	71275670	G	A	71275670	3	1	326	1	0	0	0	0	1	0	0	0	12606	1087	38	1	631	1	PROL1	4	71275670	Missense_Mutation	SNP	G	TCGA-HT-A61C-01A-11D-A29Q-08	1205383	71275670	119878606	15	30627											
PARM1	25849	broad.mit.edu	37	4	75938016	75938016	+	Missense_Mutation	SNP	C	C	A			TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr4:75938016C>A	ENST00000307428.7	+	2	637	c.425C>A	c.(424-426)gCt>gAt	p.A142D	RP11-44F21.2_ENST00000513770.1_RNA|PARM1_ENST00000513238.1_Intron	NM_015393.3	NP_056208.2	Q6UWI2	PARM1_HUMAN	prostate androgen-regulated mucin-like protein 1	142					positive regulation of telomerase activity	early endosome|endosome membrane|Golgi membrane|integral to membrane|late endosome|plasma membrane				cervix(1)|endometrium(2)|lung(4)|ovary(1)	8						TCGCAGTCCGCTGCTGAGCCT	0.572													22	245					4.35082e-09	4.57981e-09	1	1	0	A	75938016	C	A	75938016	3	1	326	1	0	0	0	0	1	0	0	0	11499	797	28	4	431	4	PARM1	4	75938016	Missense_Mutation	SNP	C	TCGA-HT-A61C-01A-11D-A29Q-08	4662346	75938016	115216260	16	30628											
TRAM1L1	133022	broad.mit.edu	37	4	118006209	118006209	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr4:118006209G>A	ENST00000310754.4	-	1	527	c.341C>T	c.(340-342)gCg>gTg	p.A114V		NM_152402.2	NP_689615.2	Q8N609	TR1L1_HUMAN	translocation associated membrane protein 1-like 1	114					protein transport|transmembrane transport	endoplasmic reticulum membrane|integral to membrane		p.A114E(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22						GTTTTGTTTCGCTTTGGTGAA	0.373													12	31					0	0	1	0	0	A	118006209	G	A	118006209	3	1	326	1	0	0	0	0	1	0	0	0	16513	1087	38	1	772	1	TRAM1L1	4	118006209	Missense_Mutation	SNP	G	TCGA-HT-A61C-01A-11D-A29Q-08	42068193	118006209	73148067	17	30629											
TMEM184C	55751	broad.mit.edu	37	4	148555479	148555479	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr4:148555479C>T	ENST00000296582.3	+	10	1785	c.1211C>T	c.(1210-1212)aCt>aTt	p.T404I	TMEM184C_ENST00000508208.1_Intron	NM_018241.2	NP_060711.2	Q9NVA4	T184C_HUMAN	transmembrane protein 184C	404						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(2)|prostate(1)	16						TTTGGACACACTGTGACTCCC	0.408													29	47					0	0	1	0	0	T	148555479	C	T	148555479	3	4	326	1	0	0	0	0	1	0	0	0	16166	565	20	2	1249	2	TMEM184C	4	148555479	Missense_Mutation	SNP	C	TCGA-HT-A61C-01A-11D-A29Q-08	30549270	148555479	42598797	18	30630											
ADAMTS19	171019	broad.mit.edu	37	5	129070795	129070795	+	Silent	SNP	C	C	G			TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr5:129070795C>G	ENST00000274487.4	+	22	3610	c.3465C>G	c.(3463-3465)ccC>ccG	p.P1155P	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	1155					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		TAACATCACCCAGACTGGGTA	0.338													21	44					0	0	1	0	0	G	129070795	C	G	129070795	2	3	326	1	0	0	0	0	0	0	0	1	263	581	21	5		5	ADAMTS19	5	129070795	Silent	SNP	C	TCGA-HT-A61C-01A-11D-A29Q-08		129070795	51844465	19	30631											
ANXA6	309	broad.mit.edu	37	5	150488109	150488109	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr5:150488109A>G	ENST00000354546.5	-	23	1914	c.1687T>C	c.(1687-1689)Ttc>Ctc	p.F563L	ANXA6_ENST00000523714.1_Missense_Mutation_p.F531L|ANXA6_ENST00000521512.1_Missense_Mutation_p.F350L|ANXA6_ENST00000377751.5_Missense_Mutation_p.F220L|ANXA6_ENST00000356496.5_Missense_Mutation_p.F557L	NM_001155.4	NP_001146.2	P08133	ANXA6_HUMAN	annexin A6	563						melanosome	calcium ion binding|calcium-dependent phospholipid binding|protein binding			endometrium(2)|kidney(1)|lung(9)	12		Medulloblastoma(196;0.0912)|all_hematologic(541;0.208)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AACTCCTGGAAGACTGGCCAC	0.582													64	105					0	0	1	0	0	G	150488109	A	G	150488109	3	3	326	1	0	0	0	0	1	0	0	0	716	72	3	3	350	3	ANXA6	5	150488109	Missense_Mutation	SNP	A	TCGA-HT-A61C-01A-11D-A29Q-08	21417314	150488109	30427151	20	30632											
EGFR	1956	broad.mit.edu	37	7	55221743	55221743	+	Missense_Mutation	SNP	A	A	C			TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr7:55221743A>C	ENST00000275493.2	+	7	964	c.787A>C	c.(787-789)Acc>Ccc	p.T263P	EGFR_ENST00000342916.3_Missense_Mutation_p.T263P|EGFR_ENST00000442591.1_Missense_Mutation_p.T263P|EGFR_ENST00000455089.1_Missense_Mutation_p.T218P|EGFR_ENST00000344576.2_Missense_Mutation_p.T263P|EGFR_ENST00000454757.2_Missense_Mutation_p.T210P|EGFR_ENST00000420316.2_Missense_Mutation_p.T263P	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	263					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.T263P(4)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	GTGCAAGGACACCTGCCCCCC	0.577		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			38	119					0	0	1	0	0	C	55221743	A	C	55221743	3	2	326	1	0	0	0	0	1	0	0	0	4993	159	6	5	813	5	EGFR	7	55221743	Missense_Mutation	SNP	A	TCGA-HT-A61C-01A-11D-A29Q-08		55221743	103916920	21	30633											
MET	4233	broad.mit.edu	37	7	116395440	116395440	+	Missense_Mutation	SNP	G	G	C			TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr7:116395440G>C	ENST00000397752.3	+	6	1933	c.1733G>C	c.(1732-1734)gGg>gCg	p.G578A	MET_ENST00000495962.1_3'UTR|MET_ENST00000436117.2_Missense_Mutation_p.G578A|MET_ENST00000318493.6_Missense_Mutation_p.G578A	NM_000245.2|NM_001127500.1	NP_000236.2|NP_001120972.1	P08581	MET_HUMAN	met proto-oncogene	578	IPT/TIG 1.				axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			CTTGAAGGAGGGACAAGGCTG	0.368			Mis		"papillary renal, head-neck squamous cell "	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)				434	995					0	0	1	0	0	C	116395440	G	C	116395440	3	2	326	1	0	0	0	0	1	0	0	0	9535	1232	43	5	1751	5	MET	7	116395440	Missense_Mutation	SNP	G	TCGA-HT-A61C-01A-11D-A29Q-08	61173697	116395440	42743223	22	30634											
MET	4233	broad.mit.edu	37	7	116412045	116412045	+	Splice_Site	SNP	T	T	A			TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr7:116412045T>A	ENST00000397752.3	+	14	3228		c.e14+2		MET_ENST00000318493.6_Splice_Site	NM_000245.2|NM_001127500.1	NP_000236.2|NP_001120972.1	P08581	MET_HUMAN	met proto-oncogene						axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding	p.?(3)|p.982_1028del47(1)		NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			TTCCAGAAGGTATATTTCAGT	0.343			Mis		"papillary renal, head-neck squamous cell "	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)				29	847					0	0	1	0	0	A	116412045	T	A	116412045	5	1	326	1	0	0	0	0	0	0	1	0	9535	1652	57	5	3134	5	MET	7	116412045	Splice_Site	SNP	T	TCGA-HT-A61C-01A-11D-A29Q-08	16605	116412045	42726618	23	30635											
KCND2	3751	broad.mit.edu	37	7	120381623	120381623	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr7:120381623C>G	ENST00000331113.4	+	3	2279	c.1314C>G	c.(1312-1314)agC>agG	p.S438R		NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	438					regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)					CAGCCAAAAGCGGAAGCGCAA	0.373													14	52					0	0	1	0	0	G	120381623	C	G	120381623	3	3	326	1	0	0	0	0	1	0	0	0	8063	767	27	5	1324	5	KCND2	7	120381623	Missense_Mutation	SNP	C	TCGA-HT-A61C-01A-11D-A29Q-08	3969578	120381623	38757040	24	30636											
FSCN3	29999	broad.mit.edu	37	7	127240253	127240253	+	Missense_Mutation	SNP	G	G	C			TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr7:127240253G>C	ENST00000265825.5	+	6	1516	c.1297G>C	c.(1297-1299)Ggg>Cgg	p.G433R	FSCN3_ENST00000420086.2_Splice_Site_p.G297A	NM_020369.2	NP_065102.1	Q9NQT6	FSCN3_HUMAN	fascin homolog 3, actin-bundling protein, testicular (Strongylocentrotus purpuratus)	433						actin cytoskeleton|cytoplasm	actin filament binding|protein binding, bridging			endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30						TCCAGCACAGGGGGGATCCTT	0.572													18	70					0	0	1	0	0	C	127240253	G	C	127240253	3	2	326	1	0	0	0	0	1	0	0	0	6104	1232	43	5	1319	5	FSCN3	7	127240253	Missense_Mutation	SNP	G	TCGA-HT-A61C-01A-11D-A29Q-08	6858630	127240253	31898410	25	30637											
GFRA2	2675	broad.mit.edu	37	8	21608324	21608324	+	Silent	SNP	C	C	T			TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr8:21608324C>T	ENST00000524240.1	-	4	1220	c.570G>A	c.(568-570)tcG>tcA	p.S190S	GFRA2_ENST00000517328.1_Silent_p.S190S|GFRA2_ENST00000518077.1_Silent_p.S57S|GFRA2_ENST00000400782.4_Silent_p.S85S	NM_001495.4	NP_001486.4	O00451	GFRA2_HUMAN	GDNF family receptor alpha 2	190						anchored to membrane|extrinsic to membrane|plasma membrane	glial cell-derived neurotrophic factor receptor activity			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|prostate(1)|skin(1)	7				Colorectal(74;0.0189)|COAD - Colon adenocarcinoma(73;0.0727)		GCTCGGTGGGCGAGATCTCGC	0.607													36	52					0	0	1	0	0	T	21608324	C	T	21608324	2	4	326	1	0	0	0	0	0	0	0	1	6390	755	27	1		1	GFRA2	8	21608324	Silent	SNP	C	TCGA-HT-A61C-01A-11D-A29Q-08		21608324	124755698	26	30638											
ASPH	444	broad.mit.edu	37	8	62556552	62556552	+	Missense_Mutation	SNP	C	C	A			TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr8:62556552C>A	ENST00000541428.1	-	8	734	c.574G>T	c.(574-576)Gac>Tac	p.D192Y	ASPH_ENST00000522835.1_Missense_Mutation_p.D164Y|ASPH_ENST00000356457.5_Missense_Mutation_p.D221Y|ASPH_ENST00000518068.1_Missense_Mutation_p.D178Y|ASPH_ENST00000445642.3_Missense_Mutation_p.D207Y|ASPH_ENST00000517903.1_Missense_Mutation_p.D207Y|ASPH_ENST00000522919.1_Missense_Mutation_p.D34Y|ASPH_ENST00000379454.4_Missense_Mutation_p.D221Y|ASPH_ENST00000517847.2_Missense_Mutation_p.D207Y	NM_001164750.1	NP_001158222.1	Q12797	ASPH_HUMAN	aspartate beta-hydroxylase	221	Glu-rich.				muscle contraction	integral to endoplasmic reticulum membrane	calcium ion binding|electron carrier activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity|structural constituent of muscle			breast(1)|cervix(1)|endometrium(5)|large_intestine(5)|lung(16)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	Lung SC(2;0.153)	Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101)			L-Aspartic Acid(DB00128)|Succinic acid(DB00139)	TGATTACAGTCTTGTGAAACT	0.318													5	14					0.014758	0.0150081	1	1	0	A	62556552	C	A	62556552	3	1	326	1	0	0	0	0	1	0	0	0	1052	913	32	4	1699	4	ASPH	8	62556552	Missense_Mutation	SNP	C	TCGA-HT-A61C-01A-11D-A29Q-08	40948228	62556552	83807470	27	30639											
TMEM67	91147	broad.mit.edu	37	8	94828614	94828614	+	Silent	SNP	C	C	T			TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr8:94828614C>T	ENST00000453321.3	+	28	2980	c.2922C>T	c.(2920-2922)atC>atT	p.I974I	TMEM67_ENST00000409623.3_Silent_p.I893I	NM_153704.5	NP_714915.3	Q5HYA8	MKS3_HUMAN	transmembrane protein 67	974					cilium assembly|ER-associated protein catabolic process|negative regulation of centrosome duplication	centrosome|cilium membrane|cytoplasmic vesicle membrane|endoplasmic reticulum membrane|integral to membrane|microtubule basal body	unfolded protein binding			breast(3)|endometrium(8)|kidney(5)|large_intestine(4)|liver(2)|lung(15)|ovary(2)|skin(1)|urinary_tract(1)	41	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.00896)			TTAGATATATCCGTAATACAG	0.259													8	23					0	0	1	0	0	T	94828614	C	T	94828614	2	4	326	1	0	0	0	0	0	0	0	1	16256	845	30	2		2	TMEM67	8	94828614	Silent	SNP	C	TCGA-HT-A61C-01A-11D-A29Q-08	32272062	94828614	51535408	28	30640											
COL27A1	85301	broad.mit.edu	37	9	117005792	117005792	+	Missense_Mutation	SNP	G	G	C			TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr9:117005792G>C	ENST00000356083.3	+	23	3277	c.2886G>C	c.(2884-2886)caG>caC	p.Q962H		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	962	Collagen-like 6.|Pro-rich.|Triple-helical region.				cell adhesion		extracellular matrix structural constituent			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						TGCAGGGTCAGCCTGGCAGGA	0.627													15	22					0	0	1	0	0	C	117005792	G	C	117005792	3	2	326	1	0	0	0	0	1	0	0	0	3708	962	34	4	2976	4	COL27A1	9	117005792	Missense_Mutation	SNP	G	TCGA-HT-A61C-01A-11D-A29Q-08		117005792	24207639	29	30641											
TRAF2	7186	broad.mit.edu	37	9	139815579	139815579	+	Silent	SNP	C	C	T			TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr9:139815579C>T	ENST00000359662.3	+	9	1251	c.1206C>T	c.(1204-1206)taC>taT	p.Y402Y	TRAF2_ENST00000536468.1_Silent_p.Y350Y|TRAF2_ENST00000247668.2_Silent_p.Y350Y			Q12933	TRAF2_HUMAN	TNF receptor-associated factor 2	350	MATH.				activation of caspase activity|activation of NF-kappaB-inducing kinase activity|activation of pro-apoptotic gene products|cellular protein complex assembly|induction of apoptosis by extracellular signals|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|protein autoubiquitination|protein homotrimerization|protein K63-linked ubiquitination|tumor necrosis factor-mediated signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane	CD40 receptor binding|enzyme binding|protein binding|signal transducer activity|sphingolipid binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.229)	OV - Ovarian serous cystadenocarcinoma(145;4.48e-06)|Epithelial(140;9.55e-06)		CATCCACCTACGATGGGGTCT	0.602													38	44					0	0	1	0	0	T	139815579	C	T	139815579	2	4	326	1	0	0	0	0	0	0	0	1	16499	547	19	1		1	TRAF2	9	139815579	Silent	SNP	C	TCGA-HT-A61C-01A-11D-A29Q-08	22809787	139815579	1397852	30	30642											
OR56A4	120793	broad.mit.edu	37	11	6023641	6023641	+	Silent	SNP	G	G	A			TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr11:6023641G>A	ENST00000330728.4	-	1	783	c.738C>T	c.(736-738)gaC>gaT	p.D246D		NM_001005179.2	NP_001005179.2	Q8NGH8	O56A4_HUMAN	olfactory receptor, family 56, subfamily A, member 4	194					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	32		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGAAAGTGATGTCATCACAAG	0.428													17	25					0	0	1	0	0	A	6023641	G	A	6023641	2	1	326	1	0	0	0	0	0	0	0	1	11183	1368	48	2		2	OR56A4	11	6023641	Silent	SNP	G	TCGA-HT-A61C-01A-11D-A29Q-08		6023641	128982875	31	30643											
LDHA	3939	broad.mit.edu	37	11	18424533	18424533	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr11:18424533G>T	ENST00000422447.3	+	5	838	c.565G>T	c.(565-567)Gtc>Ttc	p.V189F	LDHA_ENST00000396222.2_Missense_Mutation_p.V189F|LDHA_ENST00000540430.1_Missense_Mutation_p.V218F|LDHA_ENST00000542179.1_Missense_Mutation_p.V189F|LDHA_ENST00000227157.4_Missense_Mutation_p.V189F|LDHA_ENST00000379412.5_Missense_Mutation_p.V189F|LDHA_ENST00000430553.2_Missense_Mutation_p.V131F	NM_001135239.1|NM_005566.3	NP_001128711.1|NP_005557.1	P00338	LDHA_HUMAN	lactate dehydrogenase A	189					glycolysis|pyruvate metabolic process	cytosol	L-lactate dehydrogenase activity|protein binding			central_nervous_system(3)|endometrium(1)|large_intestine(4)|lung(4)	12					NADH(DB00157)	TCATGGGTGGGTCCTTGGGGA	0.408													4	76					0.000602214	0.00062298	1	1	0	T	18424533	G	T	18424533	3	4	326	1	0	0	0	0	1	0	0	0	8737	1261	44	5	670	5	LDHA	11	18424533	Missense_Mutation	SNP	G	TCGA-HT-A61C-01A-11D-A29Q-08	12400892	18424533	116581983	32	30644											
OR8K1	390157	broad.mit.edu	37	11	56113534	56113534	+	Missense_Mutation	SNP	A	A	T			TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr11:56113534A>T	ENST00000279783.2	+	1	114	c.20A>T	c.(19-21)cAc>cTc	p.H7L		NM_001002907.1	NP_001002907.1	Q8NGG5	OR8K1_HUMAN	olfactory receptor, family 8, subfamily K, member 1	7					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(8)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33	Esophageal squamous(21;0.00448)					GTGGTAAAACACAATCACACG	0.363										HNSCC(65;0.19)			16	33					0	0	1	0	0	T	56113534	A	T	56113534	3	4	326	1	0	0	0	0	1	0	0	0	11290	159	6	5	22	5	OR8K1	11	56113534	Missense_Mutation	SNP	A	TCGA-HT-A61C-01A-11D-A29Q-08	37689001	56113534	78892982	33	30645											
PGM2L1	283209	broad.mit.edu	37	11	74085469	74085469	+	Silent	SNP	C	C	T			TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr11:74085469C>T	ENST00000298198.4	-	2	581	c.270G>A	c.(268-270)caG>caA	p.Q90Q		NM_173582.3	NP_775853.2	Q6PCE3	PGM2L_HUMAN	phosphoglucomutase 2-like 1	90					glucose 1-phosphate metabolic process	cytosol	glucose-1,6-bisphosphate synthase activity|phosphoglucomutase activity			NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	Breast(11;3.32e-06)					CCTGTGTTGACTGTATTACTG	0.463													11	19					0	0	1	0	0	T	74085469	C	T	74085469	2	4	326	1	0	0	0	0	0	0	0	1	11847	564	20	2		2	PGM2L1	11	74085469	Silent	SNP	C	TCGA-HT-A61C-01A-11D-A29Q-08	17971935	74085469	60921047	34	30646											
CAPZA3	93661	broad.mit.edu	37	12	18891867	18891867	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr12:18891867C>T	ENST00000317658.3	+	1	823	c.665C>T	c.(664-666)gCt>gTt	p.A222V		NM_033328.2	NP_201585.1	Q96KX2	CAZA3_HUMAN	capping protein (actin filament) muscle Z-line, alpha 3	222					actin cytoskeleton organization|actin filament capping	F-actin capping protein complex	actin binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)	19	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)	Hepatocellular(102;0.194)				GCTCAACTGGCTCTAAGTTTT	0.393													10	26					0	0	1	0	0	T	18891867	C	T	18891867	3	4	326	1	0	0	0	0	1	0	0	0	2660	797	28	2	667	2	CAPZA3	12	18891867	Missense_Mutation	SNP	C	TCGA-HT-A61C-01A-11D-A29Q-08		18891867	114960028	35	30647											
SLC15A4	121260	broad.mit.edu	37	12	129283824	129283824	+	Missense_Mutation	SNP	A	A	T			TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr12:129283824A>T	ENST00000266771.5	-	7	1592	c.1553T>A	c.(1552-1554)aTg>aAg	p.M518K	SLC15A4_ENST00000545031.1_Missense_Mutation_p.M35K|SLC15A4_ENST00000544112.1_Missense_Mutation_p.M181K	NM_145648.3	NP_663623.1	Q8N697	S15A4_HUMAN	solute carrier family 15 (oligopeptide transporter), member 4	518					oligopeptide transport|protein transport	integral to membrane|lysosomal membrane	peptide:hydrogen symporter activity			endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|skin(1)	22	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.69e-06)|Epithelial(86;1.17e-05)|all cancers(50;5.07e-05)		GTGACTGCTCATCCATCCGAT	0.542													51	74					0	0	1	0	0	T	129283824	A	T	129283824	3	4	326	1	0	0	0	0	1	0	0	0	14456	217	8	4	188	4	SLC15A4	12	129283824	Missense_Mutation	SNP	A	TCGA-HT-A61C-01A-11D-A29Q-08	110391957	129283824	4568071	36	30648											
CHD8	57680	broad.mit.edu	37	14	21884050	21884050	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr14:21884050C>T	ENST00000399982.2	-	5	1797	c.1733G>A	c.(1732-1734)cGc>cAc	p.R578H	CHD8_ENST00000557364.1_Missense_Mutation_p.R578H|CHD8_ENST00000555962.1_Intron|CHD8_ENST00000430710.3_Missense_Mutation_p.R299H	NM_001170629.1	NP_001164100.1	Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	578					ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding	p.R578H(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		CTTAACTTGGCGGTTTGAGCG	0.378													26	25					0	0	1	0	0	T	21884050	C	T	21884050	3	4	326	1	0	0	0	0	1	0	0	0	3353	768	27	1	6144	1	CHD8	14	21884050	Missense_Mutation	SNP	C	TCGA-HT-A61C-01A-11D-A29Q-08		21884050	85465490	37	30649											
EIF5	1983	broad.mit.edu	37	14	103802435	103802435	+	Silent	SNP	G	G	A			TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr14:103802435G>A	ENST00000216554.3	+	4	811	c.135G>A	c.(133-135)gcG>gcA	p.A45A	EIF5_ENST00000560200.1_Intron|EIF5_ENST00000558506.1_Silent_p.A45A|EIF5_ENST00000392715.2_Silent_p.A45A	NM_001969.4	NP_001960.2	P55010	IF5_HUMAN	eukaryotic translation initiation factor 5	45					regulation of translational initiation|RNA metabolic process	cytosol	GTP binding|GTPase activity|translation initiation factor activity			breast(3)|kidney(2)|large_intestine(3)|lung(5)|pancreas(2)|skin(2)|upper_aerodigestive_tract(1)	18		Melanoma(154;0.155)	Epithelial(46;0.182)			TTGCAAAGGCGCTTAATCGGC	0.408													18	6					0	0	1	0	0	A	103802435	G	A	103802435	2	1	326	1	0	0	0	0	0	0	0	1	5068	1074	38	1		1	EIF5	14	103802435	Silent	SNP	G	TCGA-HT-A61C-01A-11D-A29Q-08	81918385	103802435	3547105	38	30650											
RYR3	6263	broad.mit.edu	37	15	34150114	34150114	+	Splice_Site	SNP	C	C	T			TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr15:34150114C>T	ENST00000389232.4	+	99	14211	c.14141C>T	c.(14140-14142)aCg>aTg	p.T4714M	RYR3_ENST00000415757.3_Splice_Site_p.T4709M	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	4714					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GACATGATGACGGTGAGAGCC	0.582													26	32					0	0	1	0	0	T	34150114	C	T	34150114	5	4	326	1	0	0	0	0	0	0	1	0	13822	550	19	1	14535	1	RYR3	15	34150114	Splice_Site	SNP	C	TCGA-HT-A61C-01A-11D-A29Q-08		34150114	68381278	39	30651											
PCSK6	5046	broad.mit.edu	37	15	101938646	101938646	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr15:101938646C>T	ENST00000348070.1	-	8	955	c.956G>A	c.(955-957)cGa>cAa	p.R319Q	PCSK6_ENST00000561177.1_5'UTR|PCSK6_ENST00000358417.3_Missense_Mutation_p.R319Q|PCSK6_ENST00000398181.2_Missense_Mutation_p.R319Q|PCSK6_ENST00000344273.2_Missense_Mutation_p.R319Q|PCSK6_ENST00000331826.7_Missense_Mutation_p.R154Q	NM_002570.3|NM_138320.1	NP_002561.1|NP_612193.1	P29122	PCSK6_HUMAN	proprotein convertase subtilisin/kexin type 6	320	Catalytic.				glycoprotein metabolic process|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|regulation of BMP signaling pathway|secretion by cell	cell surface|endomembrane system|endoplasmic reticulum|extracellular matrix|extracellular space|Golgi lumen|membrane|soluble fraction	eukaryotic cell surface binding|heparin binding|nerve growth factor binding|serine-type endopeptidase activity			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CTTAGCCAGTCGGCCGGGCCC	0.567													90	139					0	0	1	0	0	T	101938646	C	T	101938646	3	4	326	1	0	0	0	0	1	0	0	0	11651	884	31	1	2493	1	PCSK6	15	101938646	Missense_Mutation	SNP	C	TCGA-HT-A61C-01A-11D-A29Q-08	67788532	101938646	592746	40	30652											
MYH11	4629	broad.mit.edu	37	16	15870006	15870006	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr16:15870006C>T	ENST00000452625.2	-	9	926	c.839G>A	c.(838-840)cGc>cAc	p.R280H	MYH11_ENST00000396324.3_Missense_Mutation_p.R280H|MYH11_ENST00000300036.5_Missense_Mutation_p.R273H|MYH11_ENST00000576790.2_Missense_Mutation_p.R273H	NM_001040113.1	NP_001035202.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	273	Myosin head-like.				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						TCTGGCTTGGCGAATTGCCCG	0.488			T	CBFB	AML								68	111					0	0	1	0	0	T	15870006	C	T	15870006	3	4	326	1	0	0	0	0	1	0	0	0	10079	768	27	1	5271	1	MYH11	16	15870006	Missense_Mutation	SNP	C	TCGA-HT-A61C-01A-11D-A29Q-08		15870006	74484747	41	30653											
MYH2	4620	broad.mit.edu	37	17	10432347	10432347	+	Missense_Mutation	SNP	C	C	T	rs151164070		TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr17:10432347C>T	ENST00000245503.5	-	27	3788	c.3404G>A	c.(3403-3405)cGg>cAg	p.R1135Q	MYH2_ENST00000397183.2_Missense_Mutation_p.R1135Q|MYH2_ENST00000532183.2_Intron|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1135					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						TGCTTTGGCCCGGGAGGCCCG	0.592													36	69					0	0	1	0	0	T	10432347	C	T	10432347	3	4	326	1	0	0	0	0	1	0	0	0	10083	652	23	1	2477	1	MYH2	17	10432347	Missense_Mutation	SNP	C	TCGA-HT-A61C-01A-11D-A29Q-08		10432347	70762863	42	30654											
MUC16	94025	broad.mit.edu	37	19	9076533	9076533	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr19:9076533A>G	ENST00000397910.4	-	3	11116	c.10913T>C	c.(10912-10914)aTt>aCt	p.I3638T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3639	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GCTGGTTCCAATGACAGTTAT	0.448													30	38					0	0	1	0	0	G	9076533	A	G	9076533	3	3	326	1	0	0	0	0	1	0	0	0	10021	101	4	3	32938	3	MUC16	19	9076533	Missense_Mutation	SNP	A	TCGA-HT-A61C-01A-11D-A29Q-08		9076533	50052450	43	30655											
LILRA6	79168	broad.mit.edu	37	19	54742930	54742930	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr19:54742930T>C	ENST00000396365.2	-	8	1384	c.1345A>G	c.(1345-1347)Atc>Gtc	p.I449V	LILRA6_ENST00000245621.5_Missense_Mutation_p.I432V|LILRB3_ENST00000407860.2_Intron|LILRA6_ENST00000440558.2_Intron|LILRA6_ENST00000419410.2_Intron|LILRA6_ENST00000270464.5_Intron|LILRA6_ENST00000391735.3_Intron	NM_024318.2	NP_077294			leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6											central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(20)|ovary(3)|skin(2)|urinary_tract(2)	38	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CCCATGCGGATGAGATTCTCC	0.582													32	84					0	0	1	0	0	C	54742930	T	C	54742930	3	2	326	1	0	0	0	0	1	0	0	0	8829	1464	51	3	104	3	LILRA6	19	54742930	Missense_Mutation	SNP	T	TCGA-HT-A61C-01A-11D-A29Q-08	45666397	54742930	4386053	44	30656											
CDC25B	994	broad.mit.edu	37	20	3782703	3782703	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr20:3782703C>T	ENST00000245960.5	+	10	1751	c.1054C>T	c.(1054-1056)Cgg>Tgg	p.R352W	CDC25B_ENST00000340833.4_Missense_Mutation_p.R311W|CDC25B_ENST00000467519.1_3'UTR|CDC25B_ENST00000379598.5_Missense_Mutation_p.R261W|CDC25B_ENST00000439880.2_Missense_Mutation_p.R338W|CDC25B_ENST00000344256.6_Missense_Mutation_p.R288W	NM_004358.3|NM_021872.2|NM_021873.2	NP_004349.1|NP_068658.1|NP_068659.1	P30305	MPIP2_HUMAN	cell division cycle 25B	352					cell division|G2/M transition of mitotic cell cycle|mitosis|positive regulation of cell proliferation	cytosol|microtubule organizing center|nucleoplasm	protein binding|protein tyrosine phosphatase activity			NS(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(1)	18						TAAGCGGAGGCGGAGCGTGAC	0.657													7	9					0	0	1	0	0	T	3782703	C	T	3782703	3	4	326	1	0	0	0	0	1	0	0	0	3085	759	27	1	1092	1	CDC25B	20	3782703	Missense_Mutation	SNP	C	TCGA-HT-A61C-01A-11D-A29Q-08		3782703	59242817	45	30657											
NAA20	51126	broad.mit.edu	37	20	19998065	19998065	+	Missense_Mutation	SNP	T	T	A			TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr20:19998065T>A	ENST00000334982.4	+	1	306	c.25T>A	c.(25-27)Tgc>Agc	p.C9S	NAA20_ENST00000398602.2_5'UTR|NAA20_ENST00000310450.4_Missense_Mutation_p.C9S|NAA20_ENST00000484480.1_3'UTR	NM_016100.4	NP_057184.1	P61599	NAA20_HUMAN	N(alpha)-acetyltransferase 20, NatB catalytic subunit	9	N-acetyltransferase.					cytoplasm|nucleus	peptide alpha-N-acetyltransferase activity			endometrium(3)|lung(2)|prostate(1)	6						GGCCTTTACCTGCGACGACCT	0.716													11	27					0	0	1	0	0	A	19998065	T	A	19998065	3	1	326	1	0	0	0	0	1	0	0	0	10168	1580	55	5	27	5	NAA20	20	19998065	Missense_Mutation	SNP	T	TCGA-HT-A61C-01A-11D-A29Q-08	16215362	19998065	43027455	46	30658											
EPHA8	2046	broad.mit.edu	37	1	22923871	22923871	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A74H-01A-11D-A32B-08	TCGA-HT-A74H-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c03738-63f8-41c8-9dfc-4dcf447f2b95	f03d1a78-0b2f-4725-8dd3-d31d00507dcd	g.chr1:22923871C>T	ENST00000166244.3	+	10	1904	c.1832C>T	c.(1831-1833)gCg>gTg	p.A611V		NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	611						integral to plasma membrane	ATP binding|ephrin receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		CAGTTCTATGCGGAACCCCAC	0.652													21	120					0	0	1	0	0	T	22923871	C	T	22923871	3	4	327	1	0	0	0	0	1	0	0	0	5201	768	27	1	2043	1	EPHA8	1	22923871	Missense_Mutation	SNP	C	TCGA-HT-A74H-01A-11D-A32B-08		22923871	226326750	1	30659											
OSBPL9	114883	broad.mit.edu	37	1	52252272	52252272	+	Silent	SNP	C	C	T			TCGA-HT-A74H-01A-11D-A32B-08	TCGA-HT-A74H-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c03738-63f8-41c8-9dfc-4dcf447f2b95	f03d1a78-0b2f-4725-8dd3-d31d00507dcd	g.chr1:52252272C>T	ENST00000371710.3	+	22	2219	c.2037C>T	c.(2035-2037)aaC>aaT	p.N679N	OSBPL9_ENST00000486942.1_Silent_p.N483N|OSBPL9_ENST00000531828.1_Silent_p.N496N|OSBPL9_ENST00000447887.1_Silent_p.N671N|OSBPL9_ENST00000462759.1_Silent_p.N483N|OSBPL9_ENST00000337809.4_Silent_p.N666N|OSBPL9_ENST00000371714.1_Silent_p.N648N|OSBPL9_ENST00000530544.1_Silent_p.N580N|OSBPL9_ENST00000435686.2_Silent_p.N496N|OSBPL9_ENST00000453295.1_Silent_p.N644N|OSBPL9_ENST00000361556.5_Silent_p.N551N|OSBPL9_ENST00000428468.1_Silent_p.N661N	NM_024586.5|NM_148906.2	NP_078862.4|NP_683704.2	Q96SU4	OSBL9_HUMAN	oxysterol binding protein-like 9	661					lipid transport		lipid binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|pancreas(1)|prostate(3)|skin(1)	18						AAGATCAGAACGAGTATGAAT	0.438													9	34					0	0	1	0	0	T	52252272	C	T	52252272	2	4	327	1	0	0	0	0	0	0	0	1	11331	535	19	1		1	OSBPL9	1	52252272	Silent	SNP	C	TCGA-HT-A74H-01A-11D-A32B-08	29328401	52252272	196998349	2	30660											
ANKRD13C	81573	broad.mit.edu	37	1	70779456	70779456	+	Silent	SNP	T	T	C			TCGA-HT-A74H-01A-11D-A32B-08	TCGA-HT-A74H-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c03738-63f8-41c8-9dfc-4dcf447f2b95	f03d1a78-0b2f-4725-8dd3-d31d00507dcd	g.chr1:70779456T>C	ENST00000370944.4	-	5	994	c.681A>G	c.(679-681)ctA>ctG	p.L227L	ANKRD13C_ENST00000262346.6_Silent_p.L192L	NM_030816.4	NP_110443.3	Q8N6S4	AN13C_HUMAN	ankyrin repeat domain 13C	227					protein retention in ER lumen|regulation of anoikis|regulation of receptor biosynthetic process	endoplasmic reticulum membrane|perinuclear region of cytoplasm	receptor binding			endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	19						AGTGAAGTTCTAGATAAAAGT	0.289													16	65					0	0	1	0	0	C	70779456	T	C	70779456	2	2	327	1	0	0	0	0	0	0	0	1	639	1509	53	3		3	ANKRD13C	1	70779456	Silent	SNP	T	TCGA-HT-A74H-01A-11D-A32B-08	18527184	70779456	178471165	3	30661											
FLG2	388698	broad.mit.edu	37	1	152326021	152326021	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-A74H-01A-11D-A32B-08	TCGA-HT-A74H-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c03738-63f8-41c8-9dfc-4dcf447f2b95	f03d1a78-0b2f-4725-8dd3-d31d00507dcd	g.chr1:152326021G>T	ENST00000388718.5	-	3	4313	c.4241C>A	c.(4240-4242)tCc>tAc	p.S1414Y	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1414							calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGTTGTCCTGGACCCTCTCTG	0.512													49	215					9.22156e-22	9.89961e-22	1	1	0	T	152326021	G	T	152326021	3	4	327	1	0	0	0	0	1	0	0	0	5956	1174	41	5	2938	5	FLG2	1	152326021	Missense_Mutation	SNP	G	TCGA-HT-A74H-01A-11D-A32B-08	81546565	152326021	96924600	4	30662											
LAMB3	3914	broad.mit.edu	37	1	209788707	209788707	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A74H-01A-11D-A32B-08	TCGA-HT-A74H-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c03738-63f8-41c8-9dfc-4dcf447f2b95	f03d1a78-0b2f-4725-8dd3-d31d00507dcd	g.chr1:209788707C>T	ENST00000391911.1	-	22	3817	c.3428G>A	c.(3427-3429)cGc>cAc	p.R1143H	LAMB3_ENST00000367030.3_Missense_Mutation_p.R1143H|LAMB3_ENST00000356082.4_Missense_Mutation_p.R1143H	NM_001017402.1	NP_001017402.1	Q13751	LAMB3_HUMAN	laminin, beta 3	1143	Domain I.				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		GTCCGCTGAGCGCAGCATGAT	0.587													13	44					0	0	1	0	0	T	209788707	C	T	209788707	3	4	327	1	0	0	0	0	1	0	0	0	8651	768	27	1	94	1	LAMB3	1	209788707	Missense_Mutation	SNP	C	TCGA-HT-A74H-01A-11D-A32B-08	57462686	209788707	39461914	5	30663											
RYR2	6262	broad.mit.edu	37	1	237777418	237777418	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A74H-01A-11D-A32B-08	TCGA-HT-A74H-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c03738-63f8-41c8-9dfc-4dcf447f2b95	f03d1a78-0b2f-4725-8dd3-d31d00507dcd	g.chr1:237777418G>A	ENST00000366574.2	+	37	5307	c.4990G>A	c.(4990-4992)Gtc>Atc	p.V1664I	RYR2_ENST00000360064.6_Missense_Mutation_p.V1662I|RYR2_ENST00000542537.1_Missense_Mutation_p.V1648I	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1664	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.V1662L(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CTACTCAGCCGTCTGTGCTCT	0.517													10	22					0	0	1	0	0	A	237777418	G	A	237777418	3	1	327	1	0	0	0	0	1	0	0	0	13821	1145	40	1	5136	1	RYR2	1	237777418	Missense_Mutation	SNP	G	TCGA-HT-A74H-01A-11D-A32B-08	27988711	237777418	11473203	6	30664											
LRP2	4036	broad.mit.edu	37	2	170093742	170093742	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A74H-01A-11D-A32B-08	TCGA-HT-A74H-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c03738-63f8-41c8-9dfc-4dcf447f2b95	f03d1a78-0b2f-4725-8dd3-d31d00507dcd	g.chr2:170093742C>T	ENST00000263816.3	-	28	4847	c.4562G>A	c.(4561-4563)cGt>cAt	p.R1521H		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	1521					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	GTAAAGATTACGACCTACCCA	0.363													15	49					0	0	1	0	0	T	170093742	C	T	170093742	3	4	327	1	0	0	0	0	1	0	0	0	9001	536	19	1	9613	1	LRP2	2	170093742	Missense_Mutation	SNP	C	TCGA-HT-A74H-01A-11D-A32B-08		170093742	73105631	7	30665											
NEU2	4759	broad.mit.edu	37	2	233899438	233899438	+	Missense_Mutation	SNP	T	T	G			TCGA-HT-A74H-01A-11D-A32B-08	TCGA-HT-A74H-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c03738-63f8-41c8-9dfc-4dcf447f2b95	f03d1a78-0b2f-4725-8dd3-d31d00507dcd	g.chr2:233899438T>G	ENST00000233840.3	+	2	814	c.814T>G	c.(814-816)Tgc>Ggc	p.C272G		NM_005383.2	NP_005374.2	Q9Y3R4	NEUR2_HUMAN	sialidase 2 (cytosolic sialidase)	272							exo-alpha-sialidase activity			endometrium(3)|large_intestine(2)|lung(10)|skin(2)|urinary_tract(1)	18		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0271)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0839)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0488)		GCCCCAGGGCTGCCAGGGGAG	0.682													6	18					0	0	1	0	0	G	233899438	T	G	233899438	3	3	327	1	0	0	0	0	1	0	0	0	10389	1580	55	5	820	5	NEU2	2	233899438	Missense_Mutation	SNP	T	TCGA-HT-A74H-01A-11D-A32B-08	63805696	233899438	9299935	8	30666											
SETD2	29072	broad.mit.edu	37	3	47161888	47161891	+	Frame_Shift_Del	DEL	CTCT	CTCT	-			TCGA-HT-A74H-01A-11D-A32B-08	TCGA-HT-A74H-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c03738-63f8-41c8-9dfc-4dcf447f2b95	f03d1a78-0b2f-4725-8dd3-d31d00507dcd	g.chr3:47161888_47161891delCTCT	ENST00000409792.3	-	3	4277_4280	c.4235_4238delAGAG	c.(4234-4239)gagagtfs	p.ES1412fs		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	1412					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		TTCAGAATCACTCTCTATTTCCTG	0.412			"N, F, S, Mis"		clear cell renal carcinoma								12	54	---	---	---	---						-	47161891	CTCT	-	47161888	7	5	327	1	0	1	0	1	0	0	0	0	14185	565	20	0	3532	0	SETD2	3	47161888	Frame_Shift_Del	DEL	CTCT	TCGA-HT-A74H-01A-11D-A32B-08		47161888	150860542	9	30667											
ZPLD1	131368	broad.mit.edu	37	3	102187849	102187849	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A74H-01A-11D-A32B-08	TCGA-HT-A74H-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c03738-63f8-41c8-9dfc-4dcf447f2b95	f03d1a78-0b2f-4725-8dd3-d31d00507dcd	g.chr3:102187849G>A	ENST00000306176.1	+	8	951	c.851G>A	c.(850-852)cGa>cAa	p.R284Q	ZPLD1_ENST00000466937.1_Missense_Mutation_p.R268Q|ZPLD1_ENST00000491959.1_Missense_Mutation_p.R268Q	NM_175056.1	NP_778226.1	Q8TCW7	ZPLD1_HUMAN	zona pellucida-like domain containing 1	268	ZP.					integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(18)|ovary(2)|skin(3)	35						GAGAATGGCCGAAGCCAGCGG	0.478													8	46					0	0	1	0	0	A	102187849	G	A	102187849	3	1	327	1	0	0	0	0	1	0	0	0	18263	1058	37	1	881	1	ZPLD1	3	102187849	Missense_Mutation	SNP	G	TCGA-HT-A74H-01A-11D-A32B-08	55025961	102187849	95834581	10	30668											
PLXNA1	5361	broad.mit.edu	37	3	126749159	126749159	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A74H-01A-11D-A32B-08	TCGA-HT-A74H-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c03738-63f8-41c8-9dfc-4dcf447f2b95	f03d1a78-0b2f-4725-8dd3-d31d00507dcd	g.chr3:126749159C>T	ENST00000393409.2	+	28	5135	c.5135C>T	c.(5134-5136)cCg>cTg	p.P1712L	PLXNA1_ENST00000251772.4_Missense_Mutation_p.P1689L	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	1712					axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		TCAGCCCTGCCGCTGGCCATC	0.602													22	80					0	0	1	0	0	T	126749159	C	T	126749159	3	4	327	1	0	0	0	0	1	0	0	0	12167	652	23	1	5245	1	PLXNA1	3	126749159	Missense_Mutation	SNP	C	TCGA-HT-A74H-01A-11D-A32B-08	24561310	126749159	71273271	11	30669											
ATP8A1	10396	broad.mit.edu	37	4	42626599	42626600	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-HT-A74H-01A-11D-A32B-08	TCGA-HT-A74H-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c03738-63f8-41c8-9dfc-4dcf447f2b95	f03d1a78-0b2f-4725-8dd3-d31d00507dcd	g.chr4:42626599_42626600delAA	ENST00000381668.5	-	4	547_548	c.316_317delTT	c.(316-318)ttafs	p.L106fs	ATP8A1_ENST00000264449.10_Frame_Shift_Del_p.L106fs	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	106					ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	TAAAATAAATAAGAGAGGAACC	0.292													9	38	---	---	---	---						-	42626600	AA	-	42626599	7	5	327	1	0	1	0	1	0	0	0	0	1190	372	13	0	3391	0	ATP8A1	4	42626599	Frame_Shift_Del	DEL	AA	TCGA-HT-A74H-01A-11D-A32B-08		42626599	148527677	12	30670											
SHROOM3	57619	broad.mit.edu	37	4	77661986	77661986	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A74H-01A-11D-A32B-08	TCGA-HT-A74H-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c03738-63f8-41c8-9dfc-4dcf447f2b95	f03d1a78-0b2f-4725-8dd3-d31d00507dcd	g.chr4:77661986G>A	ENST00000296043.6	+	5	3613	c.2660G>A	c.(2659-2661)cGt>cAt	p.R887H		NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	887					apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			CGGCTCCTCCGTAGCCAGAGC	0.711													5	15					0	0	1	0	0	A	77661986	G	A	77661986	3	1	327	1	0	0	0	0	1	0	0	0	14350	1145	40	1	2678	1	SHROOM3	4	77661986	Missense_Mutation	SNP	G	TCGA-HT-A74H-01A-11D-A32B-08	35035387	77661986	113492290	13	30671											
FAT4	79633	broad.mit.edu	37	4	126355498	126355498	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-A74H-01A-11D-A32B-08	TCGA-HT-A74H-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c03738-63f8-41c8-9dfc-4dcf447f2b95	f03d1a78-0b2f-4725-8dd3-d31d00507dcd	g.chr4:126355498A>G	ENST00000394329.3	+	7	7130	c.7117A>G	c.(7117-7119)Att>Gtt	p.I2373V	FAT4_ENST00000335110.5_Missense_Mutation_p.I671V	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2373	Cadherin 23.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TTTCACAACAATTCCTGAGGA	0.413													23	84					0	0	1	0	0	G	126355498	A	G	126355498	3	3	327	1	0	0	0	0	1	0	0	0	5725	101	4	3	7143	3	FAT4	4	126355498	Missense_Mutation	SNP	A	TCGA-HT-A74H-01A-11D-A32B-08	48693512	126355498	64798778	14	30672											
AHRR	57491	broad.mit.edu	37	5	413482	413482	+	Silent	SNP	C	C	T			TCGA-HT-A74H-01A-11D-A32B-08	TCGA-HT-A74H-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c03738-63f8-41c8-9dfc-4dcf447f2b95	f03d1a78-0b2f-4725-8dd3-d31d00507dcd	g.chr5:413482C>T	ENST00000316418.5	+	5	431	c.387C>T	c.(385-387)gtC>gtT	p.V129V	AHRR_ENST00000505113.1_Silent_p.V129V|AHRR_ENST00000512529.1_5'UTR	NM_020731.4	NP_065782.2	A9YTQ3	AHRR_HUMAN	aryl-hydrocarbon receptor repressor	129	PAS.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1)	20			Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)			TTGCTCTGGTCGTGAGTGCAG	0.398													21	76					0	0	1	0	0	T	413482	C	T	413482	2	4	327	1	0	0	0	0	0	0	0	1	414	871	31	1		1	AHRR	5	413482	Silent	SNP	C	TCGA-HT-A74H-01A-11D-A32B-08		413482	180501778	15	30673											
DDX46	9879	broad.mit.edu	37	5	134102743	134102743	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A74H-01A-11D-A32B-08	TCGA-HT-A74H-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c03738-63f8-41c8-9dfc-4dcf447f2b95	f03d1a78-0b2f-4725-8dd3-d31d00507dcd	g.chr5:134102743G>A	ENST00000452510.2	+	3	501	c.343G>A	c.(343-345)Gag>Aag	p.E115K	DDX46_ENST00000354283.4_Missense_Mutation_p.E115K	NM_014829.2	NP_055644.2	Q7L014	DDX46_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 46	115					mRNA processing|RNA splicing	Cajal body|nuclear speck	ATP binding|ATP-dependent helicase activity|RNA binding			NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CAAGAAAACTGAGAATAGGTA	0.468													3	35					0	0	1	0	0	A	134102743	G	A	134102743	3	1	327	1	0	0	0	0	1	0	0	0	4387	1291	45	2	353	2	DDX46	5	134102743	Missense_Mutation	SNP	G	TCGA-HT-A74H-01A-11D-A32B-08	133689261	134102743	46812517	16	30674											
PCDHA7	56141	broad.mit.edu	37	5	140215578	140215578	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A74H-01A-11D-A32B-08	TCGA-HT-A74H-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c03738-63f8-41c8-9dfc-4dcf447f2b95	f03d1a78-0b2f-4725-8dd3-d31d00507dcd	g.chr5:140215578C>T	ENST00000525929.1	+	1	1610	c.1610C>T	c.(1609-1611)gCg>gTg	p.A537V	PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000378125.3_Missense_Mutation_p.A537V|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron	NM_018910.2	NP_061733.1														NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGGTGAGCGCGCGCGATGCG	0.677													38	130					0	0	1	0	0	T	140215578	C	T	140215578	3	4	327	1	0	0	0	0	1	0	0	0	11576	768	27	1	1612	1	PCDHA7	5	140215578	Missense_Mutation	SNP	C	TCGA-HT-A74H-01A-11D-A32B-08	6112835	140215578	40699682	17	30675											
RANBP17	64901	broad.mit.edu	37	5	170345766	170345766	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A74H-01A-11D-A32B-08	TCGA-HT-A74H-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c03738-63f8-41c8-9dfc-4dcf447f2b95	f03d1a78-0b2f-4725-8dd3-d31d00507dcd	g.chr5:170345766G>A	ENST00000523189.1	+	10	1168	c.1004G>A	c.(1003-1005)cGt>cAt	p.R335H		NM_022897.3	NP_075048.1	Q9H2T7	RBP17_HUMAN	RAN binding protein 17	335					mRNA transport|protein import into nucleus|transmembrane transport	cytoplasm|nuclear pore	GTP binding|protein transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	50	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TTTTTGGCTCGTTTAAAGACA	0.338			T	TRD@	ALL								9	39					0	0	1	0	0	A	170345766	G	A	170345766	3	1	327	1	0	0	0	0	1	0	0	0	13079	1145	40	1	1042	1	RANBP17	5	170345766	Missense_Mutation	SNP	G	TCGA-HT-A74H-01A-11D-A32B-08	30130188	170345766	10569494	18	30676											
LTV1	84946	broad.mit.edu	37	6	144167303	144167303	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HT-A74H-01A-11D-A32B-08	TCGA-HT-A74H-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c03738-63f8-41c8-9dfc-4dcf447f2b95	f03d1a78-0b2f-4725-8dd3-d31d00507dcd	g.chr6:144167303C>A	ENST00000367576.5	+	3	385	c.251C>A	c.(250-252)tCa>tAa	p.S84*		NM_032860.3	NP_116249.2	Q96GA3	LTV1_HUMAN	LTV1 homolog (S. cerevisiae)	84										breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)	13				OV - Ovarian serous cystadenocarcinoma(155;2.72e-06)|GBM - Glioblastoma multiforme(68;0.0372)		CTTATTCCCTCAAGTACCTTC	0.463													4	32					0.150653	0.150653	1	1	0	A	144167303	C	A	144167303	4	1	327	1	0	0	0	0	0	1	0	0	9126	838	29	5	261	5	LTV1	6	144167303	Nonsense_Mutation	SNP	C	TCGA-HT-A74H-01A-11D-A32B-08		144167303	26947764	19	30677											
IKZF1	10320	broad.mit.edu	37	7	50468070	50468070	+	Silent	SNP	C	C	T			TCGA-HT-A74H-01A-11D-A32B-08	TCGA-HT-A74H-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c03738-63f8-41c8-9dfc-4dcf447f2b95	f03d1a78-0b2f-4725-8dd3-d31d00507dcd	g.chr7:50468070C>T	ENST00000331340.3	+	8	1460	c.1305C>T	c.(1303-1305)taC>taT	p.Y435Y	IKZF1_ENST00000438033.1_Silent_p.Y348Y|IKZF1_ENST00000439701.1_Silent_p.Y393Y|IKZF1_ENST00000349824.4_Silent_p.Y292Y|IKZF1_ENST00000440768.2_3'UTR|IKZF1_ENST00000346667.4_Silent_p.Y205Y|IKZF1_ENST00000343574.5_Silent_p.Y348Y|IKZF1_ENST00000359197.5_Silent_p.Y393Y|IKZF1_ENST00000357364.4_Silent_p.Y348Y	NM_001220769.1|NM_001220772.1|NM_001220773.1|NM_001220775.1|NM_006060.4	NP_001207698.1|NP_001207701.1|NP_001207702.1|NP_001207704.1|NP_006051.1	Q13422	IKZF1_HUMAN	IKAROS family zinc finger 1 (Ikaros)	435					cell cycle|chromatin modification|mesoderm development	cytoplasm|nucleus	zinc ion binding	p.?(28)		haematopoietic_and_lymphoid_tissue(275)|lung(1)	276	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)				ACCGCGCCTACGACCTGCTGC	0.672			"D,T"	BCL6	"ALL, DLBCL"								7	34					0	0	1	0	0	T	50468070	C	T	50468070	2	4	327	1	0	0	0	0	0	0	0	1	7658	547	19	1		1	IKZF1	7	50468070	Silent	SNP	C	TCGA-HT-A74H-01A-11D-A32B-08		50468070	108670593	20	30678											
DLX6	1750	broad.mit.edu	37	7	96635420	96635421	+	In_Frame_Ins	INS	-	-	GCC			TCGA-HT-A74H-01A-11D-A32B-08	TCGA-HT-A74H-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c03738-63f8-41c8-9dfc-4dcf447f2b95	f03d1a78-0b2f-4725-8dd3-d31d00507dcd	g.chr7:96635420_96635421insGCC	ENST00000518156.2	+	1	561_562	c.131_132insGCC	c.(130-135)cagccg>caGCCgccg	p.53_54insP	DLX6-AS1_ENST00000437541.1_RNA|DLX6-AS1_ENST00000458352.2_RNA|DLX6-AS1_ENST00000452769.2_RNA|DLX6-AS1_ENST00000605417.1_RNA|DLX6-AS1_ENST00000437331.2_RNA|DLX6-AS1_ENST00000430404.2_RNA|DLX6_ENST00000007660.5_Intron|DLX6-AS1_ENST00000430027.3_RNA			P56179	DLX6_HUMAN	distal-less homeobox 6	0					nervous system development|skeletal system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(2)|lung(4)|ovary(2)|urinary_tract(1)	12	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)					caacagcaacagccgccgccgc	0.698													2	4	---	---	---	---						GCC	96635421	-	GCC	96635420	7	5	327	1	0	1	1	0	0	0	0	0	4603	188	7	0	133	0	DLX6	7	96635420	In_Frame_Ins	INS	-	TCGA-HT-A74H-01A-11D-A32B-08	46167350	96635420	62503243	21	30679											
MUC17	140453	broad.mit.edu	37	7	100681032	100681032	+	Missense_Mutation	SNP	C	C	T	rs138732859		TCGA-HT-A74H-01A-11D-A32B-08	TCGA-HT-A74H-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c03738-63f8-41c8-9dfc-4dcf447f2b95	f03d1a78-0b2f-4725-8dd3-d31d00507dcd	g.chr7:100681032C>T	ENST00000306151.4	+	3	6399	c.6335C>T	c.(6334-6336)aCg>aTg	p.T2112M		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2112	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CTCAGCACCACGCCGGTGGCC	0.498													46	298					0	0	1	0	0	T	100681032	C	T	100681032	3	4	327	1	0	0	0	0	1	0	0	0	10022	536	19	1	6345	1	MUC17	7	100681032	Missense_Mutation	SNP	C	TCGA-HT-A74H-01A-11D-A32B-08	4045612	100681032	58457631	22	30680											
EXOC4	60412	broad.mit.edu	37	7	133602453	133602453	+	Silent	SNP	G	G	A			TCGA-HT-A74H-01A-11D-A32B-08	TCGA-HT-A74H-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c03738-63f8-41c8-9dfc-4dcf447f2b95	f03d1a78-0b2f-4725-8dd3-d31d00507dcd	g.chr7:133602453G>A	ENST00000253861.4	+	13	2018	c.1989G>A	c.(1987-1989)caG>caA	p.Q663Q	EXOC4_ENST00000460346.1_3'UTR|EXOC4_ENST00000545148.1_Silent_p.Q273Q|EXOC4_ENST00000539845.1_Silent_p.Q562Q	NM_021807.3	NP_068579.3	Q96A65	EXOC4_HUMAN	exocyst complex component 4	663					vesicle docking involved in exocytosis	exocyst	protein N-terminus binding			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	50		Esophageal squamous(399;0.129)				AACCCAAACAGCTGAGGCCAA	0.398													17	86					0	0	1	0	0	A	133602453	G	A	133602453	2	1	327	1	0	0	0	0	0	0	0	1	5333	962	34	2		2	EXOC4	7	133602453	Silent	SNP	G	TCGA-HT-A74H-01A-11D-A32B-08	32921421	133602453	25536210	23	30681											
KIAA1549	57670	broad.mit.edu	37	7	138603696	138603696	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A74H-01A-11D-A32B-08	TCGA-HT-A74H-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c03738-63f8-41c8-9dfc-4dcf447f2b95	f03d1a78-0b2f-4725-8dd3-d31d00507dcd	g.chr7:138603696C>T	ENST00000440172.1	-	2	724	c.676G>A	c.(676-678)Gcc>Acc	p.A226T	KIAA1549_ENST00000242365.4_Missense_Mutation_p.A176T|KIAA1549_ENST00000422774.1_Missense_Mutation_p.A226T	NM_001164665.1|NM_020910.2	NP_001158137.1|NP_065961.2	Q9HCM3	K1549_HUMAN	KIAA1549	226						integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						AAATGACTGGCGGACTCAGCA	0.498			O	BRAF	pilocytic astrocytoma								15	119					0	0	1	0	0	T	138603696	C	T	138603696	3	4	327	1	0	0	0	0	1	0	0	0	8286	768	27	1	5252	1	KIAA1549	7	138603696	Missense_Mutation	SNP	C	TCGA-HT-A74H-01A-11D-A32B-08	5001243	138603696	20534967	24	30682											
CSMD3	114788	broad.mit.edu	37	8	113353895	113353895	+	Missense_Mutation	SNP	T	T	A			TCGA-HT-A74H-01A-11D-A32B-08	TCGA-HT-A74H-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c03738-63f8-41c8-9dfc-4dcf447f2b95	f03d1a78-0b2f-4725-8dd3-d31d00507dcd	g.chr8:113353895T>A	ENST00000297405.5	-	42	6707	c.6463A>T	c.(6463-6465)Aat>Tat	p.N2155Y	CSMD3_ENST00000455883.2_Missense_Mutation_p.N2051Y|CSMD3_ENST00000343508.3_Missense_Mutation_p.N2115Y|CSMD3_ENST00000352409.3_Missense_Mutation_p.N2085Y	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2155	CUB 12.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GTAGAAAAATTTACAAACTGG	0.353										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			8	17					0	0	1	0	0	A	113353895	T	A	113353895	3	1	327	1	0	0	0	0	1	0	0	0	3971	1841	64	5	4780	5	CSMD3	8	113353895	Missense_Mutation	SNP	T	TCGA-HT-A74H-01A-11D-A32B-08		113353895	33010127	25	30683											
SPATC1	375686	broad.mit.edu	37	8	145094826	145094826	+	Silent	SNP	G	G	A			TCGA-HT-A74H-01A-11D-A32B-08	TCGA-HT-A74H-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c03738-63f8-41c8-9dfc-4dcf447f2b95	f03d1a78-0b2f-4725-8dd3-d31d00507dcd	g.chr8:145094826G>A	ENST00000377470.3	+	2	330	c.228G>A	c.(226-228)ccG>ccA	p.P76P	SPATC1_ENST00000447830.2_Silent_p.P76P	NM_198572.2	NP_940974.2	Q76KD6	SPERI_HUMAN	spermatogenesis and centriole associated 1	76	Necessary for targeting centrosomes (By similarity).									NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.67e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TCCTGCCCCCGTCCCCAGCAG	0.632													21	73					0	0	1	0	0	A	145094826	G	A	145094826	2	1	327	1	0	0	0	0	0	0	0	1	15073	1132	40	1		1	SPATC1	8	145094826	Silent	SNP	G	TCGA-HT-A74H-01A-11D-A32B-08	31740931	145094826	1269196	26	30684											
ZNF658	26149	broad.mit.edu	37	9	40789482	40789483	+	Splice_Site	INS	-	-	A			TCGA-HT-A74H-01A-11D-A32B-08	TCGA-HT-A74H-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c03738-63f8-41c8-9dfc-4dcf447f2b95	f03d1a78-0b2f-4725-8dd3-d31d00507dcd	g.chr9:40789482_40789483insA	ENST00000602553.1	-	2	94		c.e2-2		ZNF658_ENST00000441795.1_Splice_Site|ZNF658_ENST00000377626.3_Intron			Q5TYW1	ZN658_HUMAN	zinc finger protein 658						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	46				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		TTCATGTGCCTAAAAAAAAAAA	0.426													3	5	---	---	---	---						A	40789483	-	A	40789482	8	5	327	1	0	1	1	0	0	0	1	0	18126	1537	53	0		0	ZNF658	9	40789482	Splice_Site	INS	-	TCGA-HT-A74H-01A-11D-A32B-08		40789482	100423949	27	30685											
PRUNE2	158471	broad.mit.edu	37	9	79318298	79318298	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-A74H-01A-11D-A32B-08	TCGA-HT-A74H-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c03738-63f8-41c8-9dfc-4dcf447f2b95	f03d1a78-0b2f-4725-8dd3-d31d00507dcd	g.chr9:79318298T>C	ENST00000428286.1	-	9	8354	c.7154A>G	c.(7153-7155)gAg>gGg	p.E2385G	PRUNE2_ENST00000376718.3_Missense_Mutation_p.E2744G			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	2744					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						GAACTCTGTCTCCTCCTCCAT	0.423													3	35					0	0	1	0	0	C	79318298	T	C	79318298	3	2	327	1	0	0	0	0	1	0	0	0	12690	1551	54	3	1079	3	PRUNE2	9	79318298	Missense_Mutation	SNP	T	TCGA-HT-A74H-01A-11D-A32B-08	38528816	79318298	61895133	28	30686											
PITRM1	10531	broad.mit.edu	37	10	3189439	3189439	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A74H-01A-11D-A32B-08	TCGA-HT-A74H-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c03738-63f8-41c8-9dfc-4dcf447f2b95	f03d1a78-0b2f-4725-8dd3-d31d00507dcd	g.chr10:3189439G>A	ENST00000380989.2	-	20	2280	c.2242C>T	c.(2242-2244)Cgg>Tgg	p.R748W	PITRM1-AS1_ENST00000598280.1_RNA|PITRM1-AS1_ENST00000601046.1_RNA|PITRM1_ENST00000464395.1_5'UTR|PITRM1_ENST00000224949.4_Missense_Mutation_p.R747W|PITRM1_ENST00000451104.2_Missense_Mutation_p.R649W|PITRM1_ENST00000380994.1_Missense_Mutation_p.R305W	NM_001242307.1|NM_014889.3	NP_001229236.1|NP_055704.2	E7ES23	E7ES23_HUMAN	pitrilysin metallopeptidase 1	649					proteolysis		metalloendopeptidase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|urinary_tract(3)	33						TTCATCAGCCGCACCTAAGCC	0.498													3	40					0	0	1	0	0	A	3189439	G	A	3189439	3	1	327	1	0	0	0	0	1	0	0	0	12001	1086	38	1	906	1	PITRM1	10	3189439	Missense_Mutation	SNP	G	TCGA-HT-A74H-01A-11D-A32B-08		3189439	132345308	29	30687											
GHITM	27069	broad.mit.edu	37	10	85903820	85903820	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-A74H-01A-11D-A32B-08	TCGA-HT-A74H-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c03738-63f8-41c8-9dfc-4dcf447f2b95	f03d1a78-0b2f-4725-8dd3-d31d00507dcd	g.chr10:85903820G>T	ENST00000372134.3	+	4	492	c.299G>T	c.(298-300)gGc>gTc	p.G100V		NM_014394.2	NP_055209.2	Q9H3K2	GHITM_HUMAN	growth hormone inducible transmembrane protein	100					apoptosis	integral to membrane|mitochondrial inner membrane				breast(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(2)	10						TGCTACTATGGCTTGGGACTG	0.413													17	62					3.99206e-14	4.22348e-14	1	1	0	T	85903820	G	T	85903820	3	4	327	1	0	0	0	0	1	0	0	0	6412	1203	42	5	309	5	GHITM	10	85903820	Missense_Mutation	SNP	G	TCGA-HT-A74H-01A-11D-A32B-08	82714381	85903820	49630927	30	30688											
OR4C6	219432	broad.mit.edu	37	11	55433101	55433101	+	Silent	SNP	C	C	T	rs144378683		TCGA-HT-A74H-01A-11D-A32B-08	TCGA-HT-A74H-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c03738-63f8-41c8-9dfc-4dcf447f2b95	f03d1a78-0b2f-4725-8dd3-d31d00507dcd	g.chr11:55433101C>T	ENST00000314259.3	+	1	488	c.459C>T	c.(457-459)caC>caT	p.H153H		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	153					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.H153H(1)		breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						GATTTATGCACGCAATGATAC	0.463													20	66					0	0	1	0	0	T	55433101	C	T	55433101	2	4	327	1	0	0	0	0	0	0	0	1	11100	535	19	1		1	OR4C6	11	55433101	Silent	SNP	C	TCGA-HT-A74H-01A-11D-A32B-08		55433101	79573415	31	30689											
ZDHHC5	25921	broad.mit.edu	37	11	57457663	57457663	+	Missense_Mutation	SNP	G	G	A	rs141814126		TCGA-HT-A74H-01A-11D-A32B-08	TCGA-HT-A74H-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c03738-63f8-41c8-9dfc-4dcf447f2b95	f03d1a78-0b2f-4725-8dd3-d31d00507dcd	g.chr11:57457663G>A	ENST00000287169.3	+	5	1907	c.545G>A	c.(544-546)cGc>cAc	p.R182H	ZDHHC5_ENST00000527985.1_Missense_Mutation_p.R129H	NM_015457.2	NP_056272.2	Q9C0B5	ZDHC5_HUMAN	zinc finger, DHHC-type containing 5	182						integral to membrane	acyltransferase activity|zinc ion binding			endometrium(6)|kidney(3)|large_intestine(3)|lung(5)|skin(1)	18						TCAGGGGTCCGCACGGCTGTC	0.517													4	91					0	0	1	0	0	A	57457663	G	A	57457663	3	1	327	1	0	0	0	0	1	0	0	0	17676	1087	38	1	559	1	ZDHHC5	11	57457663	Missense_Mutation	SNP	G	TCGA-HT-A74H-01A-11D-A32B-08	2024562	57457663	77548853	32	30690											
PRB4	5545	broad.mit.edu	37	12	11461396	11461396	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A74H-01A-11D-A32B-08	TCGA-HT-A74H-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c03738-63f8-41c8-9dfc-4dcf447f2b95	f03d1a78-0b2f-4725-8dd3-d31d00507dcd	g.chr12:11461396C>T	ENST00000279575.1	-	3	554	c.521G>A	c.(520-522)cGa>cAa	p.R174Q	PRB4_ENST00000535904.1_Missense_Mutation_p.R174Q|PRB4_ENST00000445719.2_Intron	NM_001261399.1|NM_002723.4	NP_001248328.1|NP_002714.2	P10163	PRB4_HUMAN	proline-rich protein BstNI subfamily 4	237	9.5 X 21 AA tandem repeats of K-P-[EQ]- [GR]-[PR]-[PR]-P-Q-G-G-N-Q-[PS]-[QH]- [RG]-[PT]-P-P-[PH]-P-G.		Missing (in allele S).	Missing (in Ref. 7; CAA30542).		extracellular region		p.R174Q(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|skin(4)|upper_aerodigestive_tract(3)	30						TCGGGCACTTCGGGACTTGTT	0.597										HNSCC(22;0.051)			73	232					0	0	1	0	0	T	11461396	C	T	11461396	3	4	327	1	0	0	0	0	1	0	0	0	12497	884	31	1	226	1	PRB4	12	11461396	Missense_Mutation	SNP	C	TCGA-HT-A74H-01A-11D-A32B-08		11461396	122390499	33	30691											
SLC2A13	114134	broad.mit.edu	37	12	40345131	40345131	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A74H-01A-11D-A32B-08	TCGA-HT-A74H-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c03738-63f8-41c8-9dfc-4dcf447f2b95	f03d1a78-0b2f-4725-8dd3-d31d00507dcd	g.chr12:40345131G>A	ENST00000280871.4	-	4	1012	c.962C>T	c.(961-963)cCa>cTa	p.P321L	SLC2A13_ENST00000380858.1_Missense_Mutation_p.P321L	NM_052885.3	NP_443117.3	Q96QE2	MYCT_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 13	321						integral to membrane|plasma membrane	myo-inositol:hydrogen symporter activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	29		Lung NSC(34;0.105)|all_lung(34;0.123)				TCGGCGAGTTGGGGGATAACT	0.373										HNSCC(50;0.14)			6	45					0	0	1	0	0	A	40345131	G	A	40345131	3	1	327	1	0	0	0	0	1	0	0	0	14597	1348	47	2	1012	2	SLC2A13	12	40345131	Missense_Mutation	SNP	G	TCGA-HT-A74H-01A-11D-A32B-08	28883735	40345131	93506764	34	30692											
LRP1	4035	broad.mit.edu	37	12	57556127	57556127	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A74H-01A-11D-A32B-08	TCGA-HT-A74H-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c03738-63f8-41c8-9dfc-4dcf447f2b95	f03d1a78-0b2f-4725-8dd3-d31d00507dcd	g.chr12:57556127C>T	ENST00000243077.3	+	14	2696	c.2230C>T	c.(2230-2232)Cac>Tac	p.H744Y		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	744					aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	TGAGCTGAACCACGCCTTTGG	0.527													26	100					0	0	1	0	0	T	57556127	C	T	57556127	3	4	327	1	0	0	0	0	1	0	0	0	8996	594	21	2	2284	2	LRP1	12	57556127	Missense_Mutation	SNP	C	TCGA-HT-A74H-01A-11D-A32B-08	17210996	57556127	76295768	35	30693											
NTN4	59277	broad.mit.edu	37	12	96180767	96180767	+	Missense_Mutation	SNP	C	C	T	rs142996736		TCGA-HT-A74H-01A-11D-A32B-08	TCGA-HT-A74H-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c03738-63f8-41c8-9dfc-4dcf447f2b95	f03d1a78-0b2f-4725-8dd3-d31d00507dcd	g.chr12:96180767C>T	ENST00000343702.4	-	2	983	c.535G>A	c.(535-537)Gct>Act	p.A179T	NTN4_ENST00000553059.1_Missense_Mutation_p.A179T|NTN4_ENST00000344911.4_Missense_Mutation_p.A142T|NTN4_ENST00000538383.1_Missense_Mutation_p.A142T	NM_021229.3	NP_067052.2	Q9HB63	NET4_HUMAN	netrin 4	179	Laminin N-terminal.				axon guidance	basement membrane|plasma membrane				NS(2)|breast(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						GTACAAATAGCGCCCTTCTTG	0.438													12	66					0	0	1	0	0	T	96180767	C	T	96180767	3	4	327	1	0	0	0	0	1	0	0	0	10750	768	27	1	1387	1	NTN4	12	96180767	Missense_Mutation	SNP	C	TCGA-HT-A74H-01A-11D-A32B-08	38624640	96180767	37671128	36	30694											
SIAH3	283514	broad.mit.edu	37	13	46357873	46357873	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A74H-01A-11D-A32B-08	TCGA-HT-A74H-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c03738-63f8-41c8-9dfc-4dcf447f2b95	f03d1a78-0b2f-4725-8dd3-d31d00507dcd	g.chr13:46357873G>A	ENST00000400405.2	-	2	561	c.455C>T	c.(454-456)gCg>gTg	p.A152V		NM_198849.2	NP_942146.2	Q8IW03	SIAH3_HUMAN	siah E3 ubiquitin protein ligase family member 3	152					multicellular organismal development|ubiquitin-dependent protein catabolic process	nucleus	metal ion binding			large_intestine(3)|lung(7)|ovary(1)|skin(1)	12						ATCAGCCGGCGCGGGGAGGTG	0.617													13	26					0	0	1	0	0	A	46357873	G	A	46357873	3	1	327	1	0	0	0	0	1	0	0	0	14356	1087	38	1	358	1	SIAH3	13	46357873	Missense_Mutation	SNP	G	TCGA-HT-A74H-01A-11D-A32B-08		46357873	68812005	37	30695											
OR10G2	26534	broad.mit.edu	37	14	22102278	22102278	+	Missense_Mutation	SNP	G	G	A	rs137944778		TCGA-HT-A74H-01A-11D-A32B-08	TCGA-HT-A74H-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c03738-63f8-41c8-9dfc-4dcf447f2b95	f03d1a78-0b2f-4725-8dd3-d31d00507dcd	g.chr14:22102278G>A	ENST00000542433.1	-	1	818	c.721C>T	c.(721-723)Cgg>Tgg	p.R241W		NM_001005466.1	NP_001005466.1	Q8NGC3	O10G2_HUMAN	olfactory receptor, family 10, subfamily G, member 2	241					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(2)	22	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0142)		GAGAAGGCCCGGCGCCTCCCA	0.552													4	32					0	0	1	0	0	A	22102278	G	A	22102278	3	1	327	1	0	0	0	0	1	0	0	0	10947	1115	39	1	214	1	OR10G2	14	22102278	Missense_Mutation	SNP	G	TCGA-HT-A74H-01A-11D-A32B-08		22102278	85247262	38	30696											
JAG2	3714	broad.mit.edu	37	14	105622205	105622205	+	Silent	SNP	G	G	A			TCGA-HT-A74H-01A-11D-A32B-08	TCGA-HT-A74H-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c03738-63f8-41c8-9dfc-4dcf447f2b95	f03d1a78-0b2f-4725-8dd3-d31d00507dcd	g.chr14:105622205G>A	ENST00000331782.3	-	4	1000	c.597C>T	c.(595-597)gaC>gaT	p.D199D	RP11-44N21.4_ENST00000548203.1_RNA|JAG2_ENST00000347004.2_Silent_p.D199D	NM_002226.4	NP_002217.3	Q9Y219	JAG2_HUMAN	jagged 2	199	DSL.				auditory receptor cell fate commitment|cell communication|cell cycle|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation|spermatogenesis|thymic T cell selection	integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5)	22		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		AGTAGTTCTCGTCGCAGCGCA	0.627													4	18					0	0	1	0	0	A	105622205	G	A	105622205	2	1	327	1	0	0	0	0	0	0	0	1	7979	1136	40	1		1	JAG2	14	105622205	Silent	SNP	G	TCGA-HT-A74H-01A-11D-A32B-08	83519927	105622205	1727335	39	30697											
ZNRF1	84937	broad.mit.edu	37	16	75127493	75127493	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-A74H-01A-11D-A32B-08	TCGA-HT-A74H-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c03738-63f8-41c8-9dfc-4dcf447f2b95	f03d1a78-0b2f-4725-8dd3-d31d00507dcd	g.chr16:75127493A>G	ENST00000335325.4	+	2	1090	c.448A>G	c.(448-450)Aag>Gag	p.K150E	ZNRF1_ENST00000566250.1_Missense_Mutation_p.K150E|ZNRF1_ENST00000320619.6_Missense_Mutation_p.K150E|ZNRF1_ENST00000564320.1_3'UTR|ZNRF1_ENST00000567962.1_Missense_Mutation_p.K150E	NM_032268.4	NP_115644.1	Q8ND25	ZNRF1_HUMAN	zinc and ring finger 1, E3 ubiquitin protein ligase	150						cell junction|endosome|lysosome|synaptic vesicle membrane	ligase activity|protein binding|zinc ion binding			breast(1)	1						CATTTGCTCCAAGTCTGTGGC	0.483													21	60					0	0	1	0	0	G	75127493	A	G	75127493	3	3	327	1	0	0	0	0	1	0	0	0	18253	131	5	3	454	3	ZNRF1	16	75127493	Missense_Mutation	SNP	A	TCGA-HT-A74H-01A-11D-A32B-08		75127493	15227260	40	30698											
BCAR1	9564	broad.mit.edu	37	16	75271148	75271148	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HT-A74H-01A-11D-A32B-08	TCGA-HT-A74H-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c03738-63f8-41c8-9dfc-4dcf447f2b95	f03d1a78-0b2f-4725-8dd3-d31d00507dcd	g.chr16:75271148delG	ENST00000546196.1	-	3	2293	c.641delC	c.(640-642)ccgfs	p.P214fs	BCAR1_ENST00000393422.2_Frame_Shift_Del_p.P261fs|BCAR1_ENST00000393420.6_Frame_Shift_Del_p.P243fs|BCAR1_ENST00000535626.2_Frame_Shift_Del_p.P95fs|BCAR1_ENST00000418647.3_Frame_Shift_Del_p.P289fs|BCAR1_ENST00000542031.2_Frame_Shift_Del_p.P241fs|BCAR1_ENST00000162330.5_Frame_Shift_Del_p.P243fs|BCAR1_ENST00000420641.3_Frame_Shift_Del_p.P261fs|BCAR1_ENST00000566982.1_5'UTR|BCAR1_ENST00000538440.2_Frame_Shift_Del_p.P243fs			P56945	BCAR1_HUMAN	breast cancer anti-estrogen resistance 1	243	Substrate for kinases (By similarity).				actin filament organization|B cell receptor signaling pathway|blood coagulation|cell adhesion|cell division|cell migration|cell proliferation|epidermal growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|integrin-mediated signaling pathway|nerve growth factor receptor signaling pathway|platelet-derived growth factor receptor signaling pathway|positive regulation of cell migration|regulation of apoptosis|regulation of cell growth|T cell receptor signaling pathway	cytosol|focal adhesion|membrane fraction|ruffle	protein kinase binding|protein phosphatase binding|SH3 domain binding|signal transducer activity			breast(2)|central_nervous_system(5)|endometrium(1)|kidney(6)|large_intestine(1)|liver(1)|lung(13)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	35				BRCA - Breast invasive adenocarcinoma(221;0.169)		CTGTGGCCCCGGGGCCAGCAG	0.697													2	4	---	---	---	---						-	75271148	G	-	75271148	7	5	327	1	0	1	0	1	0	0	0	0	1346	1116	39	0	1958	0	BCAR1	16	75271148	Frame_Shift_Del	DEL	G	TCGA-HT-A74H-01A-11D-A32B-08	143655	75271148	15083605	41	30699											
MYOCD	93649	broad.mit.edu	37	17	12666860	12666860	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A74H-01A-11D-A32B-08	TCGA-HT-A74H-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c03738-63f8-41c8-9dfc-4dcf447f2b95	f03d1a78-0b2f-4725-8dd3-d31d00507dcd	g.chr17:12666860G>A	ENST00000425538.1	+	14	3060	c.2860G>A	c.(2860-2862)Gcc>Acc	p.A954T	RP11-1090M7.1_ENST00000584772.1_RNA|MYOCD_ENST00000343344.4_Missense_Mutation_p.A906T	NM_001146312.1|NM_153604.2	NP_001139784.1|NP_705832.1	Q8IZQ8	MYCD_HUMAN	myocardin	906					cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding	p.A906T(1)		breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		AGGCTTTAGCGCCCTCACCAC	0.517													11	41					0	0	1	0	0	A	12666860	G	A	12666860	3	1	327	1	0	0	0	0	1	0	0	0	10135	1087	38	1	2926	1	MYOCD	17	12666860	Missense_Mutation	SNP	G	TCGA-HT-A74H-01A-11D-A32B-08		12666860	68528350	42	30700											
SLC13A2	9058	broad.mit.edu	37	17	26816242	26816242	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A74H-01A-11D-A32B-08	TCGA-HT-A74H-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c03738-63f8-41c8-9dfc-4dcf447f2b95	f03d1a78-0b2f-4725-8dd3-d31d00507dcd	g.chr17:26816242G>A	ENST00000444914.3	+	2	533	c.113G>A	c.(112-114)tGc>tAc	p.C38Y	SLC13A2_ENST00000537681.1_5'UTR|SLC13A2_ENST00000545060.1_Intron|SLC13A2_ENST00000314669.5_Missense_Mutation_p.C38Y	NM_001145975.1	NP_001139447.1	Q13183	S13A2_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2	38						integral to plasma membrane|membrane fraction	low affinity sodium:dicarboxylate symporter activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_lung(13;0.000871)|Lung NSC(42;0.0027)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	Succinic acid(DB00139)	GAGGCCTACTGCGCGTATGCC	0.602													12	37					0	0	1	0	0	A	26816242	G	A	26816242	3	1	327	1	0	0	0	0	1	0	0	0	14447	1319	46	2	119	2	SLC13A2	17	26816242	Missense_Mutation	SNP	G	TCGA-HT-A74H-01A-11D-A32B-08	14149382	26816242	54378968	43	30701											
SLFN13	146857	broad.mit.edu	37	17	33767661	33767661	+	Missense_Mutation	SNP	T	T	A			TCGA-HT-A74H-01A-11D-A32B-08	TCGA-HT-A74H-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c03738-63f8-41c8-9dfc-4dcf447f2b95	f03d1a78-0b2f-4725-8dd3-d31d00507dcd	g.chr17:33767661T>A	ENST00000285013.6	-	6	2922	c.2647A>T	c.(2647-2649)Atc>Ttc	p.I883F	SLFN13_ENST00000526861.1_Missense_Mutation_p.I883F|SLFN13_ENST00000533791.1_Missense_Mutation_p.I883F|SLFN13_ENST00000360502.2_Missense_Mutation_p.I565F|SLFN13_ENST00000534689.1_Missense_Mutation_p.I565F|SLFN13_ENST00000542635.1_Missense_Mutation_p.I883F	NM_144682.5	NP_653283.3	Q68D06	SLN13_HUMAN	schlafen family member 13	883						intracellular	ATP binding			NS(1)|breast(1)|endometrium(1)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	31				UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		GCCAGACAGATCAGAATATTG	0.448													24	110					0	0	1	0	0	A	33767661	T	A	33767661	3	1	327	1	0	0	0	0	1	0	0	0	14790	1435	50	4	50	4	SLFN13	17	33767661	Missense_Mutation	SNP	T	TCGA-HT-A74H-01A-11D-A32B-08	6951419	33767661	47427549	44	30702											
KRT27	342574	broad.mit.edu	37	17	38933308	38933308	+	Silent	SNP	A	A	C			TCGA-HT-A74H-01A-11D-A32B-08	TCGA-HT-A74H-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c03738-63f8-41c8-9dfc-4dcf447f2b95	f03d1a78-0b2f-4725-8dd3-d31d00507dcd	g.chr17:38933308A>C	ENST00000301656.3	-	8	1363	c.1323T>G	c.(1321-1323)acT>acG	p.T441T	KRT27_ENST00000540723.1_5'UTR	NM_181537.3	NP_853515.2	Q7Z3Y8	K1C27_HUMAN	keratin 27	441	Tail.					cytoplasm|intermediate filament	structural molecule activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(3)|skin(1)|stomach(1)	21		Breast(137;0.000812)				TCTCTTCCACAGTGTGAACTC	0.413													21	61					0	0	1	0	0	C	38933308	A	C	38933308	2	2	327	1	0	0	0	0	0	0	0	1	8507	175	7	5		5	KRT27	17	38933308	Silent	SNP	A	TCGA-HT-A74H-01A-11D-A32B-08	5165647	38933308	42261902	45	30703											
G6PC	2538	broad.mit.edu	37	17	41063169	41063169	+	Missense_Mutation	SNP	C	C	T	rs145296477	byFrequency	TCGA-HT-A74H-01A-11D-A32B-08	TCGA-HT-A74H-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c03738-63f8-41c8-9dfc-4dcf447f2b95	f03d1a78-0b2f-4725-8dd3-d31d00507dcd	g.chr17:41063169C>T	ENST00000253801.2	+	5	879	c.800C>T	c.(799-801)aCg>aTg	p.T267M	G6PC_ENST00000592383.1_3'UTR|G6PC_ENST00000585489.1_3'UTR	NM_000151.3	NP_000142.2	P35575	G6PC_HUMAN	glucose-6-phosphatase, catalytic subunit	267					gluconeogenesis|glucose homeostasis|transmembrane transport	integral to endoplasmic reticulum membrane	glucose-6-phosphatase activity|phosphate binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)	23		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.113)		AACCTGGGCACGCTCTTTGGC	0.582													6	34					0	0	1	0	0	T	41063169	C	T	41063169	3	4	327	1	0	0	0	0	1	0	0	0	6178	536	19	1	818	1	G6PC	17	41063169	Missense_Mutation	SNP	C	TCGA-HT-A74H-01A-11D-A32B-08	2129861	41063169	40132041	46	30704											
ERN1	2081	broad.mit.edu	37	17	62131666	62131666	+	Missense_Mutation	SNP	T	T	G			TCGA-HT-A74H-01A-11D-A32B-08	TCGA-HT-A74H-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c03738-63f8-41c8-9dfc-4dcf447f2b95	f03d1a78-0b2f-4725-8dd3-d31d00507dcd	g.chr17:62131666T>G	ENST00000433197.3	-	15	1992	c.1897A>C	c.(1897-1899)Aag>Cag	p.K633Q		NM_001433.3	NP_001424.3	O75460	ERN1_HUMAN	endoplasmic reticulum to nucleus signaling 1		Protein kinase.				activation of signaling protein activity involved in unfolded protein response|apoptosis|cell cycle arrest|induction of apoptosis|mRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to endoplasmic reticulum membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(4)|kidney(1)|lung(2)|ovary(1)|stomach(1)	9						TGCCGGTCCTTCTCCGTGCAG	0.488													5	16					0	0	1	0	0	G	62131666	T	G	62131666	3	3	327	1	0	0	0	0	1	0	0	0	5265	1792	62	5	1068	5	ERN1	17	62131666	Missense_Mutation	SNP	T	TCGA-HT-A74H-01A-11D-A32B-08	21068497	62131666	19063544	47	30705											
BAIAP2	10458	broad.mit.edu	37	17	79059507	79059507	+	Silent	SNP	G	G	A			TCGA-HT-A74H-01A-11D-A32B-08	TCGA-HT-A74H-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c03738-63f8-41c8-9dfc-4dcf447f2b95	f03d1a78-0b2f-4725-8dd3-d31d00507dcd	g.chr17:79059507G>A	ENST00000321300.6	+	5	426	c.333G>A	c.(331-333)ctG>ctA	p.L111L	BAIAP2_ENST00000435091.3_Silent_p.L111L|BAIAP2_ENST00000575712.1_Silent_p.L111L|BAIAP2_ENST00000575245.1_Silent_p.L144L|BAIAP2_ENST00000573894.1_3'UTR|BAIAP2_ENST00000392411.3_Silent_p.L33L|BAIAP2_ENST00000428708.2_Silent_p.L111L|BAIAP2_ENST00000321280.7_Silent_p.L111L	NM_001144888.1|NM_017451.2	NP_001138360.1|NP_059345.1	Q9UQB8	BAIP2_HUMAN	BAI1-associated protein 2	111	IMD.				axonogenesis|filopodium assembly|insulin receptor signaling pathway|regulation of actin cytoskeleton organization|response to bacterium	cell junction|cytoskeleton|cytosol|filopodium|nucleus|ruffle	cytoskeletal adaptor activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)	18	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			AGGTGGAGCTGGACTCCAGGT	0.587													17	43					0	0	1	0	0	A	79059507	G	A	79059507	2	1	327	1	0	0	0	0	0	0	0	1	1299	1335	47	2		2	BAIAP2	17	79059507	Silent	SNP	G	TCGA-HT-A74H-01A-11D-A32B-08	16927841	79059507	2135703	48	30706											
MC5R	4161	broad.mit.edu	37	18	13826283	13826283	+	Silent	SNP	C	C	T			TCGA-HT-A74H-01A-11D-A32B-08	TCGA-HT-A74H-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c03738-63f8-41c8-9dfc-4dcf447f2b95	f03d1a78-0b2f-4725-8dd3-d31d00507dcd	g.chr18:13826283C>T	ENST00000324750.3	+	1	741	c.519C>T	c.(517-519)tgC>tgT	p.C173C		NM_005913.2	NP_005904.1	P33032	MC5R_HUMAN	melanocortin 5 receptor	173					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocortin receptor activity|protein binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|upper_aerodigestive_tract(1)	41						GCACGGGCTGCGGCATTGTCT	0.567													102	373					0	0	1	0	0	T	13826283	C	T	13826283	2	4	327	1	0	0	0	0	0	0	0	1	9417	776	27	1		1	MC5R	18	13826283	Silent	SNP	C	TCGA-HT-A74H-01A-11D-A32B-08		13826283	64250965	49	30707											
MC2R	4158	broad.mit.edu	37	18	13884771	13884771	+	Silent	SNP	G	G	T			TCGA-HT-A74H-01A-11D-A32B-08	TCGA-HT-A74H-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c03738-63f8-41c8-9dfc-4dcf447f2b95	f03d1a78-0b2f-4725-8dd3-d31d00507dcd	g.chr18:13884771G>T	ENST00000327606.3	-	2	927	c.747C>A	c.(745-747)ccC>ccA	p.P249P		NM_000529.2	NP_000520.1	Q01718	ACTHR_HUMAN	melanocortin 2 receptor (adrenocorticotropic hormone)	249					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	corticotropin receptor activity|protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(8)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30					Corticotropin(DB01285)|Cosyntropin(DB01284)	AGGCGCAGTAGGGGTTACTTG	0.542													8	37					7.48243e-07	7.8031e-07	1	1	0	T	13884771	G	T	13884771	2	4	327	1	0	0	0	0	0	0	0	1	9414	987	35	4		4	MC2R	18	13884771	Silent	SNP	G	TCGA-HT-A74H-01A-11D-A32B-08	58488	13884771	64192477	50	30708											
MUC16	94025	broad.mit.edu	37	19	9075892	9075892	+	Silent	SNP	T	T	G			TCGA-HT-A74H-01A-11D-A32B-08	TCGA-HT-A74H-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c03738-63f8-41c8-9dfc-4dcf447f2b95	f03d1a78-0b2f-4725-8dd3-d31d00507dcd	g.chr19:9075892T>G	ENST00000397910.4	-	3	11757	c.11554A>C	c.(11554-11556)Aga>Cga	p.R3852R		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3853	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGCCCTTGTCTCTGAAAAGTT	0.493													4	55					0	0	1	0	0	G	9075892	T	G	9075892	2	3	327	1	0	0	0	0	0	0	0	1	10021	1559	54	5		5	MUC16	19	9075892	Silent	SNP	T	TCGA-HT-A74H-01A-11D-A32B-08		9075892	50053091	51	30709											
PPAN	56342	broad.mit.edu	37	19	10224746	10224746	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A74H-01A-11D-A32B-08	TCGA-HT-A74H-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c03738-63f8-41c8-9dfc-4dcf447f2b95	f03d1a78-0b2f-4725-8dd3-d31d00507dcd	g.chr19:10224746G>A	ENST00000556468.1	+	13	1744	c.1717G>A	c.(1717-1719)Ggc>Agc	p.G573S	PPAN-P2RY11_ENST00000393796.4_Missense_Mutation_p.G573S|PPAN-P2RY11_ENST00000428358.1_3'UTR|P2RY11_ENST00000321826.4_Missense_Mutation_p.G153S					peter pan homolog (Drosophila)											endometrium(3)|liver(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	15			OV - Ovarian serous cystadenocarcinoma(20;2.19e-08)|Epithelial(33;1.76e-05)|all cancers(31;3.54e-05)			GAGCGCTGCCGGCTGGGTCCT	0.697													8	28					0	0	1	0	0	A	10224746	G	A	10224746	3	1	327	1	0	0	0	0	1	0	0	0	12333	1116	39	1		1	PPAN	19	10224746	Missense_Mutation	SNP	G	TCGA-HT-A74H-01A-11D-A32B-08	1148854	10224746	48904237	52	30710											
PDE4C	5143	broad.mit.edu	37	19	18337154	18337154	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HT-A74H-01A-11D-A32B-08	TCGA-HT-A74H-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c03738-63f8-41c8-9dfc-4dcf447f2b95	f03d1a78-0b2f-4725-8dd3-d31d00507dcd	g.chr19:18337154delG	ENST00000262805.12	-	1	131	c.72delC	c.(70-72)cccfs	p.P24fs	PDE4C_ENST00000594465.3_Intron|PDE4C_ENST00000355502.3_Intron|PDE4C_ENST00000594617.3_Intron	NM_001098818.2	NP_001092288.1	Q08493	PDE4C_HUMAN	phosphodiesterase 4C, cAMP-specific						signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33					Dyphylline(DB00651)	TGAAGAGCCCGGGGGAGCCGC	0.741													2	4	---	---	---	---						-	18337154	G	-	18337154	7	5	327	1	0	1	0	1	0	0	0	0	11688	1103	39	0	2030	0	PDE4C	19	18337154	Frame_Shift_Del	DEL	G	TCGA-HT-A74H-01A-11D-A32B-08	8112408	18337154	40791829	53	30711											
FBL	2091	broad.mit.edu	37	19	40331409	40331409	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HT-A74H-01A-11D-A32B-08	TCGA-HT-A74H-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c03738-63f8-41c8-9dfc-4dcf447f2b95	f03d1a78-0b2f-4725-8dd3-d31d00507dcd	g.chr19:40331409delC	ENST00000221801.3	-	2	142	c.29delG	c.(28-30)ggtfs	p.G11fs		NM_001436.3	NP_001427.2	P22087	FBRL_HUMAN	fibrillarin	11	DMA/Gly-rich.				rRNA processing|tRNA processing	box C/D snoRNP complex|Cajal body	methyltransferase activity|protein binding|RNA binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)	9	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)	Renal(1328;0.000518)|Hepatocellular(1079;0.0893)	Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)	GBM - Glioblastoma multiforme(1328;0.000826)|STAD - Stomach adenocarcinoma(1328;0.138)		GCCAAAGCCACCCCCACGGGG	0.607													2	4	---	---	---	---						-	40331409	C	-	40331409	7	5	327	1	0	1	0	1	0	0	0	0	5729	507	18	0	968	0	FBL	19	40331409	Frame_Shift_Del	DEL	C	TCGA-HT-A74H-01A-11D-A32B-08	21994255	40331409	18797574	54	30712											
PRX	57716	broad.mit.edu	37	19	40900052	40900052	+	Missense_Mutation	SNP	C	C	T	rs139051512		TCGA-HT-A74H-01A-11D-A32B-08	TCGA-HT-A74H-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c03738-63f8-41c8-9dfc-4dcf447f2b95	f03d1a78-0b2f-4725-8dd3-d31d00507dcd	g.chr19:40900052C>T	ENST00000324001.7	-	7	4477	c.4207G>A	c.(4207-4209)Gtc>Atc	p.V1403I	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	1403					axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding	p.V1403I(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TTCTCTCTGACGGGGGACTTG	0.692													14	74					0	0	1	0	0	T	40900052	C	T	40900052	3	4	327	1	0	0	0	0	1	0	0	0	12691	536	19	1	182	1	PRX	19	40900052	Missense_Mutation	SNP	C	TCGA-HT-A74H-01A-11D-A32B-08	568643	40900052	18228931	55	30713											
NLRP7	199713	broad.mit.edu	37	19	55451248	55451248	+	Silent	SNP	C	C	T			TCGA-HT-A74H-01A-11D-A32B-08	TCGA-HT-A74H-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c03738-63f8-41c8-9dfc-4dcf447f2b95	f03d1a78-0b2f-4725-8dd3-d31d00507dcd	g.chr19:55451248C>T	ENST00000446217.1	-	6	1425	c.1023G>A	c.(1021-1023)gcG>gcA	p.A341A	NLRP7_ENST00000448121.2_Silent_p.A313A|NLRP7_ENST00000592784.1_Silent_p.A313A|NLRP7_ENST00000590030.1_Silent_p.A313A|NLRP7_ENST00000340844.2_Silent_p.A313A|NLRP7_ENST00000588756.1_Silent_p.A313A|NLRP7_ENST00000328092.5_Silent_p.A313A			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	313	NACHT.						ATP binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		TCGGCTGCTGCGCCAGGAGCT	0.622													6	28					0	0	1	0	0	T	55451248	C	T	55451248	2	4	327	1	0	0	0	0	0	0	0	1	10529	755	27	1		1	NLRP7	19	55451248	Silent	SNP	C	TCGA-HT-A74H-01A-11D-A32B-08	14551196	55451248	3677735	56	30714											
NLRP11	204801	broad.mit.edu	37	19	56307589	56307589	+	Silent	SNP	G	G	A	rs116391886	by1000genomes	TCGA-HT-A74H-01A-11D-A32B-08	TCGA-HT-A74H-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c03738-63f8-41c8-9dfc-4dcf447f2b95	f03d1a78-0b2f-4725-8dd3-d31d00507dcd	g.chr19:56307589G>A	ENST00000443188.1	-	8	2909	c.2199C>T	c.(2197-2199)agC>agT	p.S733S	NLRP11_ENST00000589093.1_Silent_p.S733S|NLRP11_ENST00000360133.3_Silent_p.S679S|NLRP11_ENST00000589824.2_Silent_p.S679S|NLRP11_ENST00000592953.1_Silent_p.S634S	NM_145007.3	NP_659444.2	P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	733							ATP binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		CTTCACATTCGCTGGCTCGCA	0.443													12	52					0	0	1	0	0	A	56307589	G	A	56307589	2	1	327	1	0	0	0	0	0	0	0	1	10520	1078	38	1		1	NLRP11	19	56307589	Silent	SNP	G	TCGA-HT-A74H-01A-11D-A32B-08	856341	56307589	2821394	57	30715											
ZNF460	10794	broad.mit.edu	37	19	57802451	57802451	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-A74H-01A-11D-A32B-08	TCGA-HT-A74H-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c03738-63f8-41c8-9dfc-4dcf447f2b95	f03d1a78-0b2f-4725-8dd3-d31d00507dcd	g.chr19:57802451G>T	ENST00000360338.3	+	3	864	c.542G>T	c.(541-543)tGc>tTc	p.C181F	ZNF460_ENST00000537645.1_Missense_Mutation_p.C140F	NM_006635.3	NP_006626.3	Q14592	ZN460_HUMAN	zinc finger protein 460	181					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		AATGAGAATTGCTTCCTTGTT	0.433													17	76					3.45872e-05	3.50676e-05	1	1	0	T	57802451	G	T	57802451	3	4	327	1	0	0	0	0	1	0	0	0	17981	1319	46	5	552	5	ZNF460	19	57802451	Missense_Mutation	SNP	G	TCGA-HT-A74H-01A-11D-A32B-08	1494862	57802451	1326532	58	30716											
HSF2BP	11077	broad.mit.edu	37	21	44949704	44949704	+	Missense_Mutation	SNP	C	C	T	rs140530326	byFrequency	TCGA-HT-A74H-01A-11D-A32B-08	TCGA-HT-A74H-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c03738-63f8-41c8-9dfc-4dcf447f2b95	f03d1a78-0b2f-4725-8dd3-d31d00507dcd	g.chr21:44949704C>T	ENST00000291560.2	-	9	1266	c.935G>A	c.(934-936)cGc>cAc	p.R312H	HSF2BP_ENST00000542962.1_Missense_Mutation_p.R237H	NM_007031.1	NP_008962.1	O75031	HSF2B_HUMAN	heat shock transcription factor 2 binding protein	312					spermatogenesis|transcription from RNA polymerase II promoter	cytosol	binding			kidney(2)|large_intestine(3)|prostate(1)|skin(1)	7				STAD - Stomach adenocarcinoma(101;0.18)		GCGGGGGTTGCGGCTCTTGGA	0.592													28	58					0	0	1	0	0	T	44949704	C	T	44949704	3	4	327	1	0	0	0	0	1	0	0	0	7438	768	27	1	73	1	HSF2BP	21	44949704	Missense_Mutation	SNP	C	TCGA-HT-A74H-01A-11D-A32B-08		44949704	3180191	59	30717											
EIF4ENIF1	56478	broad.mit.edu	37	22	31845480	31845480	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A74H-01A-11D-A32B-08	TCGA-HT-A74H-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c03738-63f8-41c8-9dfc-4dcf447f2b95	f03d1a78-0b2f-4725-8dd3-d31d00507dcd	g.chr22:31845480G>A	ENST00000397525.1	-	12	1845	c.1622C>T	c.(1621-1623)tCc>tTc	p.S541F	EIF4ENIF1_ENST00000397523.1_Missense_Mutation_p.S517F|EIF4ENIF1_ENST00000344710.5_Missense_Mutation_p.S366F|EIF4ENIF1_ENST00000382180.2_Missense_Mutation_p.S196F|EIF4ENIF1_ENST00000330125.5_Missense_Mutation_p.S541F	NM_001164501.1	NP_001157973.1	Q9NRA8	4ET_HUMAN	eukaryotic translation initiation factor 4E nuclear import factor 1	541						nucleus	protein binding|protein transporter activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						CAGAAGATTGGAAGAAGCAGG	0.478													9	73					0	0	1	0	0	A	31845480	G	A	31845480	3	1	327	1	0	0	0	0	1	0	0	0	5063	1174	41	2	1370	2	EIF4ENIF1	22	31845480	Missense_Mutation	SNP	G	TCGA-HT-A74H-01A-11D-A32B-08		31845480	19459086	60	30718											
TUBGCP6	85378	broad.mit.edu	37	22	50659379	50659379	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A74H-01A-11D-A32B-08	TCGA-HT-A74H-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c03738-63f8-41c8-9dfc-4dcf447f2b95	f03d1a78-0b2f-4725-8dd3-d31d00507dcd	g.chr22:50659379C>T	ENST00000439308.2	-	16	3901	c.3409G>A	c.(3409-3411)Gtg>Atg	p.V1137M	TUBGCP6_ENST00000491449.1_5'UTR|TUBGCP6_ENST00000248846.5_Missense_Mutation_p.V1137M	NM_020461.3	NP_065194.2	Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	1137	9 X 27 AA tandem repeats.				G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		GCGTTGGACACGTGCCCGTGG	0.622													25	102					0	0	1	0	0	T	50659379	C	T	50659379	3	4	327	1	0	0	0	0	1	0	0	0	16832	536	19	1	2090	1	TUBGCP6	22	50659379	Missense_Mutation	SNP	C	TCGA-HT-A74H-01A-11D-A32B-08	18813899	50659379	645187	61	30719											
VCX3A	51481	broad.mit.edu	37	X	6451822	6451822	+	Missense_Mutation	SNP	A	A	T			TCGA-HT-A74H-01A-11D-A32B-08	TCGA-HT-A74H-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c03738-63f8-41c8-9dfc-4dcf447f2b95	f03d1a78-0b2f-4725-8dd3-d31d00507dcd	g.chrX:6451822A>T	ENST00000381089.3	-	3	831	c.525T>A	c.(523-525)agT>agA	p.S175R	VCX3A_ENST00000398729.1_Missense_Mutation_p.S155R	NM_016379.3	NP_057463.2	Q9NNX9	VCX3_HUMAN	variable charge, X-linked 3A	175	8 X 10 AA tandem repeats of L-S-Q-E-S- [EQ]-V-E-E-P.|Glu-rich.				brain development	nucleolus				NS(1)|lung(2)|pancreas(1)	4						CGCTCTCCTGACTCAGTGGTT	0.587													26	77					0	0	1	0	0	T	6451822	A	T	6451822	3	4	327	1	0	0	0	0	1	0	0	0	17204	272	10	5	39	5	VCX3A	23	6451822	Missense_Mutation	SNP	A	TCGA-HT-A74H-01A-11D-A32B-08		6451822	148818738	62	30720											
MAGEE1	57692	broad.mit.edu	37	X	75649650	75649650	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A74H-01A-11D-A32B-08	TCGA-HT-A74H-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c03738-63f8-41c8-9dfc-4dcf447f2b95	f03d1a78-0b2f-4725-8dd3-d31d00507dcd	g.chrX:75649650G>A	ENST00000361470.2	+	1	1605	c.1327G>A	c.(1327-1329)Gtg>Atg	p.V443M		NM_020932.2	NP_065983.1	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	443						dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						CAAGGCCTCCGTGGACTCAGA	0.537													8	8					0	0	1	0	0	A	75649650	G	A	75649650	3	1	327	1	0	0	0	0	1	0	0	0	9235	1145	40	1	1329	1	MAGEE1	23	75649650	Missense_Mutation	SNP	G	TCGA-HT-A74H-01A-11D-A32B-08	69197828	75649650	79620910	63	30721											
MAGEA10	4109	broad.mit.edu	37	X	151303923	151303923	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A74H-01A-11D-A32B-08	TCGA-HT-A74H-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c03738-63f8-41c8-9dfc-4dcf447f2b95	f03d1a78-0b2f-4725-8dd3-d31d00507dcd	g.chrX:151303923G>A	ENST00000370323.4	-	4	486	c.170C>T	c.(169-171)tCt>tTt	p.S57F	RP11-1007I13.4_ENST00000509345.2_RNA|MAGEA10_ENST00000244096.3_Missense_Mutation_p.S57F	NM_001251828.1|NM_021048.4	NP_001238757.1|NP_066386	P43363	MAGAA_HUMAN	melanoma antigen family A, 10	57	Poly-Ser.									endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					ggaggaggaagaggaggagga	0.562													18	23					0	0	1	0	0	A	151303923	G	A	151303923	3	1	327	1	0	0	0	0	1	0	0	0	9210	942	33	2	943	2	MAGEA10	23	151303923	Missense_Mutation	SNP	G	TCGA-HT-A74H-01A-11D-A32B-08	75654273	151303923	3966637	64	30722											
USP48	84196	broad.mit.edu	37	1	22016507	22016507	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A74J-01A-12D-A32B-08	TCGA-HT-A74J-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d03da9a-4470-4f2d-b91c-846d869faa35	ec1475ec-7774-4f79-9d19-86805702d592	g.chr1:22016507C>T	ENST00000308271.9	-	24	3617	c.2969G>A	c.(2968-2970)gGc>gAc	p.G990D	USP48_ENST00000374732.3_Missense_Mutation_p.G476D|USP48_ENST00000529637.1_Missense_Mutation_p.G1002D|USP48_ENST00000400301.1_Missense_Mutation_p.G938D	NM_032236.5	NP_115612.4	Q86UV5	UBP48_HUMAN	ubiquitin specific peptidase 48	990	Ubiquitin-like.				ubiquitin-dependent protein catabolic process	mitochondrion|nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(14)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;4.66e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|OV - Ovarian serous cystadenocarcinoma(117;4.74e-26)|COAD - Colon adenocarcinoma(152;1.3e-05)|GBM - Glioblastoma multiforme(114;1.86e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000614)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00711)|Lung(427;0.0327)|READ - Rectum adenocarcinoma(331;0.0657)|LUSC - Lung squamous cell carcinoma(448;0.0753)		GCCAAGGGTGCCTAGGGTGGC	0.383													36	38					0	0	1	0	0	T	22016507	C	T	22016507	3	4	328	1	0	0	0	0	1	0	0	0	17139	739	26	2	154	2	USP48	1	22016507	Missense_Mutation	SNP	C	TCGA-HT-A74J-01A-12D-A32B-08		22016507	227234114	1	30723											
GPR61	83873	broad.mit.edu	37	1	110085791	110085791	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A74J-01A-12D-A32B-08	TCGA-HT-A74J-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d03da9a-4470-4f2d-b91c-846d869faa35	ec1475ec-7774-4f79-9d19-86805702d592	g.chr1:110085791G>A	ENST00000527748.1	+	2	830	c.147G>A	c.(145-147)atG>atA	p.M49I	RP5-1160K1.8_ENST00000526411.1_RNA	NM_031936.4	NP_114142.3	Q9BZJ8	GPR61_HUMAN	G protein-coupled receptor 61	49						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1)	23		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0426)|Colorectal(144;0.11)|Epithelial(280;0.128)|all cancers(265;0.132)|LUSC - Lung squamous cell carcinoma(189;0.228)		TCTTCTTCATGCTCCTGCTGG	0.602													4	72					0	0	1	0	0	A	110085791	G	A	110085791	3	1	328	1	0	0	0	0	1	0	0	0	6742	1319	46	2	149	2	GPR61	1	110085791	Missense_Mutation	SNP	G	TCGA-HT-A74J-01A-12D-A32B-08	88069284	110085791	139164830	2	30724											
MIA3	375056	broad.mit.edu	37	1	222827800	222827800	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-A74J-01A-12D-A32B-08	TCGA-HT-A74J-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d03da9a-4470-4f2d-b91c-846d869faa35	ec1475ec-7774-4f79-9d19-86805702d592	g.chr1:222827800T>C	ENST00000344922.5	+	17	4472	c.4447T>C	c.(4447-4449)Tcc>Ccc	p.S1483P	MIA3_ENST00000340535.7_Missense_Mutation_p.S361P|MIA3_ENST00000344507.1_Intron|MIA3_ENST00000344441.6_Missense_Mutation_p.S1483P	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	1483					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)		AGCCTCCGTGTCCACTAAATG	0.373													16	34					0	0	1	0	0	C	222827800	T	C	222827800	3	2	328	1	0	0	0	0	1	0	0	0	9614	1667	58	3	4513	3	MIA3	1	222827800	Missense_Mutation	SNP	T	TCGA-HT-A74J-01A-12D-A32B-08	112742009	222827800	26422821	3	30725											
NOP58	51602	broad.mit.edu	37	2	203165048	203165048	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-A74J-01A-12D-A32B-08	TCGA-HT-A74J-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d03da9a-4470-4f2d-b91c-846d869faa35	ec1475ec-7774-4f79-9d19-86805702d592	g.chr2:203165048A>G	ENST00000264279.5	+	13	1586	c.1360A>G	c.(1360-1362)Att>Gtt	p.I454V		NM_015934.3	NP_057018.1	Q9Y2X3	NOP58_HUMAN	NOP58 ribonucleoprotein	454	Lys-rich.				cell growth|rRNA processing|snRNP protein import into nucleus	box C/D snoRNP complex|Cajal body|cytoplasm|pre-snoRNP complex	protein binding|snoRNA binding			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(4)|prostate(2)	16						AGAGGATGAAATTACTGAAAA	0.333													9	89					0	0	1	0	0	G	203165048	A	G	203165048	3	3	328	1	0	0	0	0	1	0	0	0	10587	101	4	3	1410	3	NOP58	2	203165048	Missense_Mutation	SNP	A	TCGA-HT-A74J-01A-12D-A32B-08		203165048	40034325	4	30726											
ZDBF2	57683	broad.mit.edu	37	2	207173877	207173877	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-A74J-01A-12D-A32B-08	TCGA-HT-A74J-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d03da9a-4470-4f2d-b91c-846d869faa35	ec1475ec-7774-4f79-9d19-86805702d592	g.chr2:207173877A>G	ENST00000374423.3	+	5	5011	c.4625A>G	c.(4624-4626)gAt>gGt	p.D1542G		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	1542							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						GTAATTTCAGATGATATTCCC	0.398													6	13					0	0	1	0	0	G	207173877	A	G	207173877	3	3	328	1	0	0	0	0	1	0	0	0	17657	333	12	3	4635	3	ZDBF2	2	207173877	Missense_Mutation	SNP	A	TCGA-HT-A74J-01A-12D-A32B-08	4008829	207173877	36025496	5	30727											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-HT-A74J-01A-12D-A32B-08	TCGA-HT-A74J-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d03da9a-4470-4f2d-b91c-846d869faa35	ec1475ec-7774-4f79-9d19-86805702d592	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								27	25					0	0	1	0	0	T	209113112	C	T	209113112	3	4	328	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HT-A74J-01A-12D-A32B-08	1939235	209113112	34086261	6	30728											
SETD5	55209	broad.mit.edu	37	3	9476055	9476055	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A74J-01A-12D-A32B-08	TCGA-HT-A74J-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d03da9a-4470-4f2d-b91c-846d869faa35	ec1475ec-7774-4f79-9d19-86805702d592	g.chr3:9476055C>T	ENST00000402198.1	+	5	650	c.215C>T	c.(214-216)tCg>tTg	p.S72L	SETD5_ENST00000302463.6_5'UTR|SETD5_ENST00000406341.1_Missense_Mutation_p.S72L|SETD5_ENST00000407969.1_Missense_Mutation_p.S91L|SETD5_ENST00000402466.1_5'UTR	NM_001080517.1	NP_001073986.1	Q9C0A6	SETD5_HUMAN	SET domain containing 5	72										NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		GGCCTGCCGTCGCCTGTAGAG	0.552													4	41					0	0	1	0	0	T	9476055	C	T	9476055	3	4	328	1	0	0	0	0	1	0	0	0	14188	893	31	1	225	1	SETD5	3	9476055	Missense_Mutation	SNP	C	TCGA-HT-A74J-01A-12D-A32B-08		9476055	188546375	7	30729											
CTNNB1	1499	broad.mit.edu	37	3	41274830	41274830	+	Splice_Site	SNP	A	A	G			TCGA-HT-A74J-01A-12D-A32B-08	TCGA-HT-A74J-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d03da9a-4470-4f2d-b91c-846d869faa35	ec1475ec-7774-4f79-9d19-86805702d592	g.chr3:41274830A>G	ENST00000349496.5	+	8	1361		c.e8-1		CTNNB1_ENST00000396183.3_Splice_Site|CTNNB1_ENST00000396185.3_Splice_Site|CTNNB1_ENST00000405570.1_Splice_Site|CTNNB1_ENST00000453024.1_Splice_Site	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa						adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens	alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding		CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	Lithium(DB01356)	TTAATTTTCTAGGTGGAATGC	0.408		15	"H, Mis, T"	PLAG1	"colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"				Pilomatrixoma, Familial Clustering of				8	54					0	0	1	0	0	G	41274830	A	G	41274830	5	3	328	1	0	0	0	0	0	0	1	0	4040	434	15	3	1106	3	CTNNB1	3	41274830	Splice_Site	SNP	A	TCGA-HT-A74J-01A-12D-A32B-08	31798775	41274830	156747600	8	30730											
MAP4	4134	broad.mit.edu	37	3	47957593	47957593	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-A74J-01A-12D-A32B-08	TCGA-HT-A74J-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d03da9a-4470-4f2d-b91c-846d869faa35	ec1475ec-7774-4f79-9d19-86805702d592	g.chr3:47957593T>C	ENST00000426837.2	-	8	1862	c.1775A>G	c.(1774-1776)gAt>gGt	p.D592G	MAP4_ENST00000395734.3_Missense_Mutation_p.D575G|MAP4_ENST00000360240.6_Missense_Mutation_p.D575G|MAP4_ENST00000383737.4_Intron			P27816	MAP4_HUMAN	microtubule-associated protein 4	575					negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(2)	32				BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736)		TGGTGGAACATCTTTGGCTGG	0.483													72	116					0	0	1	0	0	C	47957593	T	C	47957593	3	2	328	1	0	0	0	0	1	0	0	0	9308	1435	50	3	3145	3	MAP4	3	47957593	Missense_Mutation	SNP	T	TCGA-HT-A74J-01A-12D-A32B-08	6682763	47957593	150064837	9	30731											
PDLIM3	27295	broad.mit.edu	37	4	186444599	186444599	+	Splice_Site	SNP	C	C	T			TCGA-HT-A74J-01A-12D-A32B-08	TCGA-HT-A74J-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d03da9a-4470-4f2d-b91c-846d869faa35	ec1475ec-7774-4f79-9d19-86805702d592	g.chr4:186444599C>T	ENST00000284767.5	-	3	314	c.247G>A	c.(247-249)Gga>Aga	p.G83R	PDLIM3_ENST00000284770.5_Splice_Site_p.G83R|PDLIM3_ENST00000284771.6_Splice_Site_p.G83R			Q53GG5	PDLI3_HUMAN	PDZ and LIM domain 3	83	PDZ.					sarcomere	zinc ion binding			breast(2)|endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	17		all_lung(41;1.03e-13)|Lung NSC(41;2.49e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.00996)|Colorectal(36;0.0161)|all_hematologic(60;0.0592)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.4e-10)|BRCA - Breast invasive adenocarcinoma(30;8.64e-05)|GBM - Glioblastoma multiforme(59;0.000167)|STAD - Stomach adenocarcinoma(60;0.000828)|LUSC - Lung squamous cell carcinoma(40;0.00984)|COAD - Colon adenocarcinoma(29;0.0115)|READ - Rectum adenocarcinoma(43;0.171)		TGAGTTTCTCCCCTGGAAATA	0.343													6	17					0	0	1	0	0	T	186444599	C	T	186444599	5	4	328	1	0	0	0	0	0	0	1	0	11728	637	22	2	1063	2	PDLIM3	4	186444599	Splice_Site	SNP	C	TCGA-HT-A74J-01A-12D-A32B-08		186444599	4709677	10	30732											
PDE10A	10846	broad.mit.edu	37	6	165863791	165863791	+	Silent	SNP	C	C	G	rs144686330		TCGA-HT-A74J-01A-12D-A32B-08	TCGA-HT-A74J-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d03da9a-4470-4f2d-b91c-846d869faa35	ec1475ec-7774-4f79-9d19-86805702d592	g.chr6:165863791C>G	ENST00000366882.1	-	5	409	c.255G>C	c.(253-255)cgG>cgC	p.R85R	PDE10A_ENST00000539869.2_Silent_p.R95R|PDE10A_ENST00000354448.4_Silent_p.R85R			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A	85					platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding	p.R85R(1)		breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Dipyridamole(DB00975)	CTGTGTCCAACCGTTGTTCTA	0.348													61	91					0	0	1	0	0	G	165863791	C	G	165863791	2	3	328	1	0	0	0	0	0	0	0	1	11677	494	18	5		5	PDE10A	6	165863791	Silent	SNP	C	TCGA-HT-A74J-01A-12D-A32B-08		165863791	5251276	11	30733											
TRIM56	81844	broad.mit.edu	37	7	100732118	100732118	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A74J-01A-12D-A32B-08	TCGA-HT-A74J-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d03da9a-4470-4f2d-b91c-846d869faa35	ec1475ec-7774-4f79-9d19-86805702d592	g.chr7:100732118C>T	ENST00000306085.6	+	3	1822	c.1525C>T	c.(1525-1527)Cgg>Tgg	p.R509W		NM_030961.1	NP_112223.1	Q9BRZ2	TRI56_HUMAN	tripartite motif containing 56	509					defense response to virus|interferon-beta production|protein K63-linked ubiquitination|response to type I interferon	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	Lung NSC(181;0.136)|all_lung(186;0.182)					GCGGTCCCCCCGGATCACCGG	0.652													48	95					0	0	1	0	0	T	100732118	C	T	100732118	3	4	328	1	0	0	0	0	1	0	0	0	16591	643	23	1	1527	1	TRIM56	7	100732118	Missense_Mutation	SNP	C	TCGA-HT-A74J-01A-12D-A32B-08		100732118	58406545	12	30734											
PLXNA4	91584	broad.mit.edu	37	7	131866888	131866888	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A74J-01A-12D-A32B-08	TCGA-HT-A74J-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d03da9a-4470-4f2d-b91c-846d869faa35	ec1475ec-7774-4f79-9d19-86805702d592	g.chr7:131866888G>A	ENST00000359827.3	-	17	4182	c.3220C>T	c.(3220-3222)Cgt>Tgt	p.R1074C	PLXNA4_ENST00000321063.4_Missense_Mutation_p.R1074C			Q9HCM2	PLXA4_HUMAN	plexin A4	1074	IPT/TIG 3.					integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						TGCTTGGCACGGATCTGGGGG	0.542													6	96					0	0	1	0	0	A	131866888	G	A	131866888	3	1	328	1	0	0	0	0	1	0	0	0	12170	1116	39	1	2528	1	PLXNA4	7	131866888	Missense_Mutation	SNP	G	TCGA-HT-A74J-01A-12D-A32B-08	31134770	131866888	27271775	13	30735											
ANKRD46	157567	broad.mit.edu	37	8	101542045	101542045	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-A74J-01A-12D-A32B-08	TCGA-HT-A74J-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d03da9a-4470-4f2d-b91c-846d869faa35	ec1475ec-7774-4f79-9d19-86805702d592	g.chr8:101542045A>G	ENST00000520311.1	-	3	820	c.17T>C	c.(16-18)gTa>gCa	p.V6A	ANKRD46_ENST00000519316.1_Missense_Mutation_p.V6A|ANKRD46_ENST00000335659.3_Missense_Mutation_p.V6A|ANKRD46_ENST00000519597.1_Missense_Mutation_p.V6A|ANKRD46_ENST00000520552.1_Missense_Mutation_p.V6A	NM_001270378.1	NP_001257307.1	Q86W74	ANR46_HUMAN	ankyrin repeat domain 46	6						integral to membrane				kidney(1)|large_intestine(2)|lung(4)	7	all_cancers(14;5.07e-05)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000353)|all_lung(17;0.000998)		Epithelial(11;2.61e-11)|all cancers(13;5.03e-09)|OV - Ovarian serous cystadenocarcinoma(57;4.49e-06)|STAD - Stomach adenocarcinoma(118;0.0957)			AGAATCATTTACAAAAACATA	0.408													4	64					0	0	1	0	0	G	101542045	A	G	101542045	3	3	328	1	0	0	0	0	1	0	0	0	668	391	14	3	681	3	ANKRD46	8	101542045	Missense_Mutation	SNP	A	TCGA-HT-A74J-01A-12D-A32B-08		101542045	44821977	14	30736											
UHRF2	115426	broad.mit.edu	37	9	6499916	6499916	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-A74J-01A-12D-A32B-08	TCGA-HT-A74J-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d03da9a-4470-4f2d-b91c-846d869faa35	ec1475ec-7774-4f79-9d19-86805702d592	g.chr9:6499916A>G	ENST00000276893.5	+	13	2158	c.1990A>G	c.(1990-1992)Agg>Ggg	p.R664G	UHRF2_ENST00000485617.2_3'UTR	NM_152896.2	NP_690856.1	Q96PU4	UHRF2_HUMAN	ubiquitin-like with PHD and ring finger domains 2, E3 ubiquitin protein ligase	664					cell cycle|cell differentiation|cell proliferation|protein autoubiquitination|regulation of cell cycle|ubiquitin-dependent protein catabolic process	nucleus	DNA binding|histone binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(2)|endometrium(2)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)	17		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0392)|Lung(218;0.129)		AACCACAAAAAGGCCAATTTC	0.433													7	10					0	0	1	0	0	G	6499916	A	G	6499916	3	3	328	1	0	0	0	0	1	0	0	0	17030	63	3	3	2040	3	UHRF2	9	6499916	Missense_Mutation	SNP	A	TCGA-HT-A74J-01A-12D-A32B-08		6499916	134713515	15	30737											
AGAP7	653268	broad.mit.edu	37	10	51465603	51465603	+	Missense_Mutation	SNP	A	A	C			TCGA-HT-A74J-01A-12D-A32B-08	TCGA-HT-A74J-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d03da9a-4470-4f2d-b91c-846d869faa35	ec1475ec-7774-4f79-9d19-86805702d592	g.chr10:51465603A>C	ENST00000374095.5	-	7	978	c.853T>G	c.(853-855)Tgt>Ggt	p.C285G		NM_001077685.1	NP_001071153.1	Q5VUJ5	AGAP7_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 7	285	PH.				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	11						CCATTGGAACACAGGGTGACG	0.433													28	325					0	0	1	0	0	C	51465603	A	C	51465603	3	2	328	1	0	0	0	0	1	0	0	0	370	159	6	5	1142	5	AGAP7	10	51465603	Missense_Mutation	SNP	A	TCGA-HT-A74J-01A-12D-A32B-08		51465603	84069144	16	30738											
CTSW	1521	broad.mit.edu	37	11	65650804	65650804	+	Missense_Mutation	SNP	A	A	C			TCGA-HT-A74J-01A-12D-A32B-08	TCGA-HT-A74J-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d03da9a-4470-4f2d-b91c-846d869faa35	ec1475ec-7774-4f79-9d19-86805702d592	g.chr11:65650804A>C	ENST00000528419.1	+	9	933	c.929A>C	c.(928-930)gAg>gCg	p.E310A	CTSW_ENST00000307886.3_Missense_Mutation_p.E310A			P56202	CATW_HUMAN	cathepsin W	310					immune response|proteolysis		cysteine-type endopeptidase activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(5)	9				READ - Rectum adenocarcinoma(159;0.168)		ATATGGGCAGAGACAGTCTCA	0.597													34	57					0	0	1	0	0	C	65650804	A	C	65650804	3	2	328	1	0	0	0	0	1	0	0	0	4066	304	11	5	963	5	CTSW	11	65650804	Missense_Mutation	SNP	A	TCGA-HT-A74J-01A-12D-A32B-08		65650804	69355712	17	30739											
DHCR7	1717	broad.mit.edu	37	11	71152482	71152482	+	Silent	SNP	A	A	C			TCGA-HT-A74J-01A-12D-A32B-08	TCGA-HT-A74J-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d03da9a-4470-4f2d-b91c-846d869faa35	ec1475ec-7774-4f79-9d19-86805702d592	g.chr11:71152482A>C	ENST00000355527.3	-	6	693	c.417T>G	c.(415-417)gtT>gtG	p.V139V	DHCR7_ENST00000407721.2_Silent_p.V139V	NM_001163817.1|NM_001360.2	NP_001157289.1|NP_001351.2	Q9UBM7	DHCR7_HUMAN	7-dehydrocholesterol reductase	139					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|nuclear outer membrane	7-dehydrocholesterol reductase activity|protein binding			endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(1)|skin(1)	19					NADH(DB00157)	ACTTGTTCACAACCCCTGCAG	0.572									Smith-Lemli-Opitz syndrome				3	7					0	0	1	0	0	C	71152482	A	C	71152482	2	2	328	1	0	0	0	0	0	0	0	1	4505	117	5	5		5	DHCR7	11	71152482	Silent	SNP	A	TCGA-HT-A74J-01A-12D-A32B-08	5501678	71152482	63854034	18	30740											
ST3GAL4	6484	broad.mit.edu	37	11	126283484	126283484	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A74J-01A-12D-A32B-08	TCGA-HT-A74J-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d03da9a-4470-4f2d-b91c-846d869faa35	ec1475ec-7774-4f79-9d19-86805702d592	g.chr11:126283484G>A	ENST00000526727.1	+	9	1230	c.856G>A	c.(856-858)Gcc>Acc	p.A286T	ST3GAL4_ENST00000444328.2_Missense_Mutation_p.A286T|ST3GAL4_ENST00000532243.1_Missense_Mutation_p.A285T|ST3GAL4_ENST00000530591.1_Missense_Mutation_p.A282T|ST3GAL4_ENST00000356132.4_Missense_Mutation_p.A292T|ST3GAL4_ENST00000227495.6_Missense_Mutation_p.A282T|ST3GAL4_ENST00000449406.2_Missense_Mutation_p.A275T|ST3GAL4_ENST00000534083.1_Missense_Mutation_p.A286T|ST3GAL4_ENST00000534457.1_Missense_Mutation_p.A281T|ST3GAL4_ENST00000392669.2_Missense_Mutation_p.A286T			Q11206	SIA4C_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 4	286					post-translational protein modification|protein N-linked glycosylation via asparagine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,3-sialyltransferase activity			endometrium(1)|large_intestine(2)|lung(5)|stomach(1)	9	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0739)|all_lung(97;0.0798)|all_neural(223;0.138)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0767)		CTACCCAGACGCCTACAACAA	0.592													20	23					0	0	1	0	0	A	126283484	G	A	126283484	3	1	328	1	0	0	0	0	1	0	0	0	15273	1087	38	1	878	1	ST3GAL4	11	126283484	Missense_Mutation	SNP	G	TCGA-HT-A74J-01A-12D-A32B-08	55131002	126283484	8723032	19	30741											
LRRC43	254050	broad.mit.edu	37	12	122685179	122685179	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A74J-01A-12D-A32B-08	TCGA-HT-A74J-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d03da9a-4470-4f2d-b91c-846d869faa35	ec1475ec-7774-4f79-9d19-86805702d592	g.chr12:122685179C>T	ENST00000339777.4	+	9	1620	c.1592C>T	c.(1591-1593)aCg>aTg	p.T531M	LRRC43_ENST00000537733.1_3'UTR|LRRC43_ENST00000425921.1_Missense_Mutation_p.T346M	NM_152759.4	NP_689972.3	Q8N309	LRC43_HUMAN	leucine rich repeat containing 43	531	Lys-rich.									NS(1)|endometrium(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(2)	19	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225)		aaagacaggacggggaaagga	0.582													11	39					0	0	1	0	0	T	122685179	C	T	122685179	3	4	328	1	0	0	0	0	1	0	0	0	9046	536	19	1	1626	1	LRRC43	12	122685179	Missense_Mutation	SNP	C	TCGA-HT-A74J-01A-12D-A32B-08		122685179	11166716	20	30742											
NEK5	341676	broad.mit.edu	37	13	52676316	52676316	+	Missense_Mutation	SNP	T	T	G			TCGA-HT-A74J-01A-12D-A32B-08	TCGA-HT-A74J-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d03da9a-4470-4f2d-b91c-846d869faa35	ec1475ec-7774-4f79-9d19-86805702d592	g.chr13:52676316T>G	ENST00000355568.4	-	10	861	c.722A>C	c.(721-723)cAa>cCa	p.Q241P		NM_199289.1	NP_954983.1	Q6P3R8	NEK5_HUMAN	NIMA-related kinase 5	241	Protein kinase.						ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;3.7e-08)		AGGAGATACTTGAAAGAGCTG	0.413													20	252					0	0	1	0	0	G	52676316	T	G	52676316	3	3	328	1	0	0	0	0	1	0	0	0	10374	1812	63	5	1456	5	NEK5	13	52676316	Missense_Mutation	SNP	T	TCGA-HT-A74J-01A-12D-A32B-08		52676316	62493562	21	30743											
TP53	7157	broad.mit.edu	37	17	7578212	7578212	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HT-A74J-01A-12D-A32B-08	TCGA-HT-A74J-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d03da9a-4470-4f2d-b91c-846d869faa35	ec1475ec-7774-4f79-9d19-86805702d592	g.chr17:7578212G>A	ENST00000420246.2	-	6	769	c.637C>T	c.(637-639)Cga>Tga	p.R213*	TP53_ENST00000455263.2_Nonsense_Mutation_p.R213*|TP53_ENST00000445888.2_Nonsense_Mutation_p.R213*|TP53_ENST00000269305.4_Nonsense_Mutation_p.R213*|TP53_ENST00000359597.4_Nonsense_Mutation_p.R213*|TP53_ENST00000413465.2_Nonsense_Mutation_p.R213*|TP53_ENST00000574684.1_Intron	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	213	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (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.R213*(250)|p.R81*(21)|p.R120*(21)|p.0?(8)|p.?(5)|p.R213G(5)|p.R213fs*35(3)|p.R213fs*34(3)|p.D208_V216delDRNTFRHSV(1)|p.R120G(1)|p.D207_R213delDDRNTFR(1)|p.T211_S215delTFRHS(1)|p.R81fs*>11(1)|p.D208fs*1(1)|p.R120fs*35(1)|p.R81G(1)|p.R209_R213delRNTFR(1)|p.R213fs*2(1)|p.T211fs*28(1)|p.R213_S215>X(1)|p.D207_V216del10(1)|p.R213R(1)|p.R213fs*32(1)|p.R209fs*6(1)|p.R213W(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)		ACACTATGTCGAAAAGTGTTT	0.532		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)			21	7					0	0	1	0	0	A	7578212	G	A	7578212	4	1	328	1	0	0	0	0	0	1	0	0	16442	1066	37	1	657	1	TP53	17	7578212	Nonsense_Mutation	SNP	G	TCGA-HT-A74J-01A-12D-A32B-08		7578212	73616998	22	30744											
CACNA1G	8913	broad.mit.edu	37	17	48703526	48703526	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A74J-01A-12D-A32B-08	TCGA-HT-A74J-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d03da9a-4470-4f2d-b91c-846d869faa35	ec1475ec-7774-4f79-9d19-86805702d592	g.chr17:48703526G>A	ENST00000352832.5	+	34	6539	c.6167G>A	c.(6166-6168)aGc>aAc	p.S2056N	CACNA1G_ENST00000358244.5_Intron|CACNA1G_ENST00000507510.2_Missense_Mutation_p.S2138N|CACNA1G_ENST00000515765.1_Missense_Mutation_p.S2127N|CACNA1G_ENST00000514181.1_Missense_Mutation_p.S2065N|CACNA1G_ENST00000512389.1_Missense_Mutation_p.S2079N|CACNA1G_ENST00000510366.1_Missense_Mutation_p.S2038N|CACNA1G_ENST00000514079.1_Missense_Mutation_p.S2097N|CACNA1G_ENST00000515165.1_Missense_Mutation_p.S2090N|CACNA1G_ENST00000507609.1_Missense_Mutation_p.S2083N|CACNA1G_ENST00000502264.1_Missense_Mutation_p.S2112N|CACNA1G_ENST00000505165.1_Intron|CACNA1G_ENST00000513689.2_Missense_Mutation_p.S2093N|CACNA1G_ENST00000442258.2_Missense_Mutation_p.S2049N|CACNA1G_ENST00000354983.4_Missense_Mutation_p.S2149N|CACNA1G_ENST00000507336.1_Missense_Mutation_p.S2172N|CACNA1G_ENST00000510115.1_Missense_Mutation_p.S2104N|CACNA1G_ENST00000359106.5_Missense_Mutation_p.S2183N|CACNA1G_ENST00000503485.1_Missense_Mutation_p.S2056N|CACNA1G_ENST00000515411.1_Missense_Mutation_p.S2120N|CACNA1G_ENST00000514717.1_Missense_Mutation_p.S2033N|CACNA1G_ENST00000429973.2_Missense_Mutation_p.S2072N|CACNA1G_ENST00000360761.4_Missense_Mutation_p.S2067N|CACNA1G_ENST00000513964.1_Missense_Mutation_p.S2045N|CACNA1G_ENST00000507896.1_Intron	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	2183					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	CACTCCCGCAGCCACAGCAAG	0.657											OREG0024569	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	25					0	0	1	0	0	A	48703526	G	A	48703526	3	1	328	1	0	0	0	0	1	0	0	0	2562	971	34	2	6965	2	CACNA1G	17	48703526	Missense_Mutation	SNP	G	TCGA-HT-A74J-01A-12D-A32B-08	41125314	48703526	32491684	23	30745											
BZRAP1	9256	broad.mit.edu	37	17	56395723	56395723	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A74J-01A-12D-A32B-08	TCGA-HT-A74J-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d03da9a-4470-4f2d-b91c-846d869faa35	ec1475ec-7774-4f79-9d19-86805702d592	g.chr17:56395723G>A	ENST00000355701.3	-	14	2660	c.1790C>T	c.(1789-1791)aCa>aTa	p.T597I	BZRAP1_ENST00000343736.4_Missense_Mutation_p.T597I|BZRAP1_ENST00000268893.6_Missense_Mutation_p.T537I	NM_001261835.1|NM_004758.3	NP_001248764.1|NP_004749.2	O95153	RIMB1_HUMAN	benzodiazapine receptor (peripheral) associated protein 1	597						mitochondrion	benzodiazepine receptor binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CTTCTTGGCTGTCCTTCGAGG	0.617													3	43					0	0	1	0	0	A	56395723	G	A	56395723	3	1	328	1	0	0	0	0	1	0	0	0	1580	1377	48	2	3855	2	BZRAP1	17	56395723	Missense_Mutation	SNP	G	TCGA-HT-A74J-01A-12D-A32B-08	7692197	56395723	24799487	24	30746											
HNF4A	3172	broad.mit.edu	37	20	43042409	43042409	+	Missense_Mutation	SNP	C	C	T	rs147342965	by1000genomes	TCGA-HT-A74J-01A-12D-A32B-08	TCGA-HT-A74J-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d03da9a-4470-4f2d-b91c-846d869faa35	ec1475ec-7774-4f79-9d19-86805702d592	g.chr20:43042409C>T	ENST00000316099.4	+	4	550	c.461C>T	c.(460-462)gCg>gTg	p.A154V	HNF4A_ENST00000443598.2_Missense_Mutation_p.A154V|HNF4A_ENST00000415691.2_Missense_Mutation_p.A154V|HNF4A_ENST00000457232.1_Missense_Mutation_p.A132V|HNF4A_ENST00000316673.4_Missense_Mutation_p.A132V|HNF4A_ENST00000609795.1_Missense_Mutation_p.A132V	NM_000457.4|NM_001258355.1|NM_178849.2	NP_000448.3|NP_001245284.1|NP_849180.1	P41235	HNF4A_HUMAN	hepatocyte nuclear factor 4, alpha						blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process	cytoplasm	activating transcription factor binding|protein homodimerization activity|receptor binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	34		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			TCCATCAATGCGCTCCTGCAG	0.632													3	9					0	0	1	0	0	T	43042409	C	T	43042409	3	4	328	1	0	0	0	0	1	0	0	0	7294	768	27	1	528	1	HNF4A	20	43042409	Missense_Mutation	SNP	C	TCGA-HT-A74J-01A-12D-A32B-08		43042409	19983111	25	30747											
ARFGEF2	10564	broad.mit.edu	37	20	47648590	47648590	+	Missense_Mutation	SNP	T	T	C	rs148821408	byFrequency	TCGA-HT-A74J-01A-12D-A32B-08	TCGA-HT-A74J-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d03da9a-4470-4f2d-b91c-846d869faa35	ec1475ec-7774-4f79-9d19-86805702d592	g.chr20:47648590T>C	ENST00000371917.4	+	38	5068	c.5068T>C	c.(5068-5070)Tgc>Cgc	p.C1690R		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	1690					exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			TTCTAGTGTTTGCAGTGAAGC	0.383													28	258					0	0	1	0	0	C	47648590	T	C	47648590	3	2	328	1	0	0	0	0	1	0	0	0	850	1812	63	3	5218	3	ARFGEF2	20	47648590	Missense_Mutation	SNP	T	TCGA-HT-A74J-01A-12D-A32B-08	4606181	47648590	15376930	26	30748											
ZNF831	128611	broad.mit.edu	37	20	57829214	57829214	+	Missense_Mutation	SNP	C	C	A			TCGA-HT-A74J-01A-12D-A32B-08	TCGA-HT-A74J-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d03da9a-4470-4f2d-b91c-846d869faa35	ec1475ec-7774-4f79-9d19-86805702d592	g.chr20:57829214C>A	ENST00000371030.2	+	5	4450	c.4450C>A	c.(4450-4452)Cat>Aat	p.H1484N		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1484						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					TTTTCCCCACCATGACATTGC	0.493													4	96					0.00909568	0.00909568	1	1	0	A	57829214	C	A	57829214	3	1	328	1	0	0	0	0	1	0	0	0	18232	594	21	5	4468	5	ZNF831	20	57829214	Missense_Mutation	SNP	C	TCGA-HT-A74J-01A-12D-A32B-08	10180624	57829214	5196306	27	30749											
ACO2	50	broad.mit.edu	37	22	41919937	41919937	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-A74J-01A-12D-A32B-08	TCGA-HT-A74J-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d03da9a-4470-4f2d-b91c-846d869faa35	ec1475ec-7774-4f79-9d19-86805702d592	g.chr22:41919937T>C	ENST00000396512.3	+	12	1566	c.1549T>C	c.(1549-1551)Tcc>Ccc	p.S517P	ACO2_ENST00000216254.4_Missense_Mutation_p.S492P			Q99798	ACON_HUMAN	aconitase 2, mitochondrial	492				T -> K (in Ref. 1; AAB38416).	citrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleus	4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron ion binding|isocitrate hydro-lyase (cis-aconitate-forming) activity			breast(3)|endometrium(5)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	23						CTTTGTCACGTCCCCAGAGGT	0.617													13	12					0	0	1	0	0	C	41919937	T	C	41919937	3	2	328	1	0	0	0	0	1	0	0	0	147	1667	58	3	1520	3	ACO2	22	41919937	Missense_Mutation	SNP	T	TCGA-HT-A74J-01A-12D-A32B-08		41919937	9384629	28	30750											
PHKA2	5256	broad.mit.edu	37	X	18913286	18913286	+	Silent	SNP	A	A	T			TCGA-HT-A74J-01A-12D-A32B-08	TCGA-HT-A74J-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d03da9a-4470-4f2d-b91c-846d869faa35	ec1475ec-7774-4f79-9d19-86805702d592	g.chrX:18913286A>T	ENST00000379942.4	-	31	3971	c.3306T>A	c.(3304-3306)ggT>ggA	p.G1102G	PHKA2_ENST00000481718.1_5'UTR	NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	1102					glucose metabolic process|glycogen catabolic process	cytosol|phosphorylase kinase complex|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61	Hepatocellular(33;0.183)					GGAGGACATAACCATCGATGG	0.537													19	45					0	0	1	0	0	T	18913286	A	T	18913286	2	4	328	1	0	0	0	0	0	0	0	1	11892	30	2	5		5	PHKA2	23	18913286	Silent	SNP	A	TCGA-HT-A74J-01A-12D-A32B-08		18913286	136357274	29	30751											
ATRX	546	broad.mit.edu	37	X	76938029	76938029	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HT-A74J-01A-12D-A32B-08	TCGA-HT-A74J-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d03da9a-4470-4f2d-b91c-846d869faa35	ec1475ec-7774-4f79-9d19-86805702d592	g.chrX:76938029G>A	ENST00000373344.5	-	9	2933	c.2719C>T	c.(2719-2721)Cga>Tga	p.R907*	ATRX_ENST00000395603.3_Nonsense_Mutation_p.R869*|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	907					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)|p.R907*(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)	TTAGGAAGTCGATCTCTTAAT	0.418			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						139	28					0	0	1	0	0	A	76938029	G	A	76938029	4	1	328	1	0	0	0	0	0	1	0	0	1206	1066	37	1	4867	1	ATRX	23	76938029	Nonsense_Mutation	SNP	G	TCGA-HT-A74J-01A-12D-A32B-08	58024743	76938029	78332531	30	30752											
DNAJC6	9829	broad.mit.edu	37	1	65871611	65871611	+	Silent	SNP	G	G	A			TCGA-HT-A74K-01A-11D-A32B-08	TCGA-HT-A74K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f448f47-6b2f-403e-a474-bb14061167ad	808487c7-959f-429c-a322-da3d1f6c07c8	g.chr1:65871611G>A	ENST00000395325.3	+	16	2272	c.2115G>A	c.(2113-2115)ccG>ccA	p.P705P	DNAJC6_ENST00000371069.4_Silent_p.P762P|DNAJC6_ENST00000263441.7_Silent_p.P692P	NM_014787.3	NP_055602.1	O75061	AUXI_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 6	705	Pro-rich.				cellular membrane organization|post-Golgi vesicle-mediated transport	cytosol	heat shock protein binding|protein tyrosine phosphatase activity|SH3 domain binding			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(22)|ovary(1)|prostate(2)|skin(1)	39						GAGGATTCCCGCCTCTCAGCT	0.537													19	6					0	0	1	0	0	A	65871611	G	A	65871611	2	1	329	1	0	0	0	0	0	0	0	1	4680	1074	38	1		1	DNAJC6	1	65871611	Silent	SNP	G	TCGA-HT-A74K-01A-11D-A32B-08		65871611	183379010	1	30753											
CELSR2	1952	broad.mit.edu	37	1	109815272	109815272	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A74K-01A-11D-A32B-08	TCGA-HT-A74K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f448f47-6b2f-403e-a474-bb14061167ad	808487c7-959f-429c-a322-da3d1f6c07c8	g.chr1:109815272G>A	ENST00000271332.3	+	30	8126	c.8065G>A	c.(8065-8067)Gca>Aca	p.A2689T	CELSR2_ENST00000498157.1_3'UTR	NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	2689					dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		GGAGGAGTCCGCACTGAACCC	0.647													3	23					0	0	1	0	0	A	109815272	G	A	109815272	3	1	329	1	0	0	0	0	1	0	0	0	3244	1087	38	1	8183	1	CELSR2	1	109815272	Missense_Mutation	SNP	G	TCGA-HT-A74K-01A-11D-A32B-08	43943661	109815272	139435349	2	30754											
PTGFRN	5738	broad.mit.edu	37	1	117487361	117487361	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HT-A74K-01A-11D-A32B-08	TCGA-HT-A74K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f448f47-6b2f-403e-a474-bb14061167ad	808487c7-959f-429c-a322-da3d1f6c07c8	g.chr1:117487361delG	ENST00000393203.2	+	3	626	c.479delG	c.(478-480)cggfs	p.R160fs		NM_020440.2	NP_065173.2	Q9P2B2	FPRP_HUMAN	prostaglandin F2 receptor inhibitor	160	Ig-like C2-type 2.					endoplasmic reticulum membrane|Golgi apparatus|integral to membrane	protein binding			NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)	46	Lung SC(450;0.225)	all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446)		Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248)		CTGAGCCTGCGGGAGGGGGAG	0.751													2	4	---	---	---	---						-	117487361	G	-	117487361	7	5	329	1	0	1	0	1	0	0	0	0	12800	1116	39	0	489	0	PTGFRN	1	117487361	Frame_Shift_Del	DEL	G	TCGA-HT-A74K-01A-11D-A32B-08	7672089	117487361	131763260	3	30755											
OR10R2	343406	broad.mit.edu	37	1	158450457	158450457	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A74K-01A-11D-A32B-08	TCGA-HT-A74K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f448f47-6b2f-403e-a474-bb14061167ad	808487c7-959f-429c-a322-da3d1f6c07c8	g.chr1:158450457C>T	ENST00000368152.1	+	1	790	c.790C>T	c.(790-792)Cac>Tac	p.H264Y	RP11-144L1.4_ENST00000426251.1_RNA|RP11-144L1.4_ENST00000419738.1_RNA	NM_001004472.1	NP_001004472.1	Q8NGX6	O10R2_HUMAN	olfactory receptor, family 10, subfamily R, member 2	264					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(26)|pancreas(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	41	all_hematologic(112;0.0378)					CTGCGCCTCTCACCTCAGTGT	0.478													22	39					0	0	1	0	0	T	158450457	C	T	158450457	3	4	329	1	0	0	0	0	1	0	0	0	10965	826	29	2	792	2	OR10R2	1	158450457	Missense_Mutation	SNP	C	TCGA-HT-A74K-01A-11D-A32B-08	40963096	158450457	90800164	4	30756											
ITLN1	55600	broad.mit.edu	37	1	160851959	160851959	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-A74K-01A-11D-A32B-08	TCGA-HT-A74K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f448f47-6b2f-403e-a474-bb14061167ad	808487c7-959f-429c-a322-da3d1f6c07c8	g.chr1:160851959T>C	ENST00000326245.3	-	4	308	c.193A>G	c.(193-195)Atc>Gtc	p.I65V		NM_017625.2	NP_060095.2	Q8WWA0	ITLN1_HUMAN	intelectin 1 (galactofuranose binding)	65	Fibrinogen C-terminal.				positive regulation of glucose import|positive regulation of protein phosphorylation|response to nematode|signal transduction	anchored to membrane|brush border membrane|extracellular region|membrane raft	receptor binding|sugar binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	21	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			GTCTGGTAGATAACACCATTC	0.577													4	37					0	0	1	0	0	C	160851959	T	C	160851959	3	2	329	1	0	0	0	0	1	0	0	0	7954	1406	49	3	768	3	ITLN1	1	160851959	Missense_Mutation	SNP	T	TCGA-HT-A74K-01A-11D-A32B-08	2401502	160851959	88398662	5	30757											
RASAL2	9462	broad.mit.edu	37	1	178427644	178427644	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-A74K-01A-11D-A32B-08	TCGA-HT-A74K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f448f47-6b2f-403e-a474-bb14061167ad	808487c7-959f-429c-a322-da3d1f6c07c8	g.chr1:178427644A>G	ENST00000448150.3	+	14	4002	c.3184A>G	c.(3184-3186)Aaa>Gaa	p.K1062E	RASAL2_ENST00000367649.3_Missense_Mutation_p.K1073E|RASAL2_ENST00000462775.1_Missense_Mutation_p.K932E	NM_170692.2	NP_733793.2	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2	932					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity			biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						CCCTGTTCCCAAAGTTAGAGC	0.562													22	35					0	0	1	0	0	G	178427644	A	G	178427644	3	3	329	1	0	0	0	0	1	0	0	0	13116	131	5	3	3309	3	RASAL2	1	178427644	Missense_Mutation	SNP	A	TCGA-HT-A74K-01A-11D-A32B-08	17575685	178427644	70822977	6	30758											
DISP1	84976	broad.mit.edu	37	1	223178729	223178729	+	Silent	SNP	G	G	A			TCGA-HT-A74K-01A-11D-A32B-08	TCGA-HT-A74K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f448f47-6b2f-403e-a474-bb14061167ad	808487c7-959f-429c-a322-da3d1f6c07c8	g.chr1:223178729G>A	ENST00000284476.6	+	8	4154	c.3990G>A	c.(3988-3990)acG>acA	p.T1330T		NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	1330					diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity	p.T1330T(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		ACCCCATCACGCACATCCACC	0.557													8	38					0	0	1	0	0	A	223178729	G	A	223178729	2	1	329	1	0	0	0	0	0	0	0	1	4567	1074	38	1		1	DISP1	1	223178729	Silent	SNP	G	TCGA-HT-A74K-01A-11D-A32B-08	44751085	223178729	26071892	7	30759											
OBSCN	84033	broad.mit.edu	37	1	228511247	228511247	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A74K-01A-11D-A32B-08	TCGA-HT-A74K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f448f47-6b2f-403e-a474-bb14061167ad	808487c7-959f-429c-a322-da3d1f6c07c8	g.chr1:228511247C>T	ENST00000570156.2	+	67	18537	c.18463C>T	c.(18463-18465)Cgc>Tgc	p.R6155C	OBSCN_ENST00000366709.4_Missense_Mutation_p.R2317C|OBSCN_ENST00000366707.4_Missense_Mutation_p.R2832C|OBSCN_ENST00000422127.1_Missense_Mutation_p.R5198C|OBSCN_ENST00000284548.11_Missense_Mutation_p.R5198C	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	5198	Ig-like 53.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GGGCGTCTACCGCTGCCTGGC	0.572													7	5					0	0	1	0	0	T	228511247	C	T	228511247	3	4	329	1	0	0	0	0	1	0	0	0	10860	652	23	1	15810	1	OBSCN	1	228511247	Missense_Mutation	SNP	C	TCGA-HT-A74K-01A-11D-A32B-08	5332518	228511247	20739374	8	30760											
OR2T3	343173	broad.mit.edu	37	1	248637377	248637377	+	Silent	SNP	C	C	T			TCGA-HT-A74K-01A-11D-A32B-08	TCGA-HT-A74K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f448f47-6b2f-403e-a474-bb14061167ad	808487c7-959f-429c-a322-da3d1f6c07c8	g.chr1:248637377C>T	ENST00000359594.2	+	1	751	c.726C>T	c.(724-726)gcC>gcT	p.A242A		NM_001005495.1	NP_001005495.1	Q8NH03	OR2T3_HUMAN	olfactory receptor, family 2, subfamily T, member 3	242					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3)	31	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			ACAGGAAGGCCTTGGCCACCT	0.567													79	108					0	0	1	0	0	T	248637377	C	T	248637377	2	4	329	1	0	0	0	0	0	0	0	1	11071	668	24	2		2	OR2T3	1	248637377	Silent	SNP	C	TCGA-HT-A74K-01A-11D-A32B-08	20126130	248637377	613244	9	30761											
MSGN1	343930	broad.mit.edu	37	2	17998326	17998326	+	Missense_Mutation	SNP	C	C	A			TCGA-HT-A74K-01A-11D-A32B-08	TCGA-HT-A74K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f448f47-6b2f-403e-a474-bb14061167ad	808487c7-959f-429c-a322-da3d1f6c07c8	g.chr2:17998326C>A	ENST00000281047.3	+	1	564	c.541C>A	c.(541-543)Ctc>Atc	p.L181I		NM_001105569.1	NP_001099039.1	A6NI15	MSGN1_HUMAN	mesogenin 1	181					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	11	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					ACTCACAGACCTCCTTAACCG	0.577													21	22					0.00229938	0.00234728	1	1	0	A	17998326	C	A	17998326	3	1	329	1	0	0	0	0	1	0	0	0	9918	681	24	4	543	4	MSGN1	2	17998326	Missense_Mutation	SNP	C	TCGA-HT-A74K-01A-11D-A32B-08		17998326	225201047	10	30762											
DYSF	8291	broad.mit.edu	37	2	71871141	71871141	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A74K-01A-11D-A32B-08	TCGA-HT-A74K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f448f47-6b2f-403e-a474-bb14061167ad	808487c7-959f-429c-a322-da3d1f6c07c8	g.chr2:71871141G>A	ENST00000258104.3	+	41	4734	c.4457G>A	c.(4456-4458)gGg>gAg	p.G1486E	DYSF_ENST00000409762.1_Missense_Mutation_p.G1503E|DYSF_ENST00000429174.2_Missense_Mutation_p.G1507E|DYSF_ENST00000410020.3_Missense_Mutation_p.G1525E|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000409651.1_Missense_Mutation_p.G1518E|DYSF_ENST00000394120.2_Missense_Mutation_p.G1487E|DYSF_ENST00000409582.3_Missense_Mutation_p.G1524E|DYSF_ENST00000409366.1_Missense_Mutation_p.G1508E|DYSF_ENST00000410041.1_Missense_Mutation_p.G1504E|DYSF_ENST00000413539.2_Missense_Mutation_p.G1517E|DYSF_ENST00000409744.1_Missense_Mutation_p.G1494E	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1486						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						GCCTCCATAGGGGAGAGGGAA	0.512													4	9					0	0	1	0	0	A	71871141	G	A	71871141	3	1	329	1	0	0	0	0	1	0	0	0	4885	1232	43	2	4878	2	DYSF	2	71871141	Missense_Mutation	SNP	G	TCGA-HT-A74K-01A-11D-A32B-08	53872815	71871141	171328232	11	30763											
DCTN1	1639	broad.mit.edu	37	2	74595107	74595107	+	Missense_Mutation	SNP	C	C	T	rs140523637		TCGA-HT-A74K-01A-11D-A32B-08	TCGA-HT-A74K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f448f47-6b2f-403e-a474-bb14061167ad	808487c7-959f-429c-a322-da3d1f6c07c8	g.chr2:74595107C>T	ENST00000361874.3	-	17	2323	c.2006G>A	c.(2005-2007)cGc>cAc	p.R669H	DCTN1_ENST00000409438.1_Missense_Mutation_p.R535H|DCTN1_ENST00000495643.1_5'UTR|DCTN1_ENST00000409567.3_Missense_Mutation_p.R649H|DCTN1_ENST00000407639.2_Missense_Mutation_p.R535H|DCTN1_ENST00000394003.3_Missense_Mutation_p.R662H|DCTN1_ENST00000409240.1_Missense_Mutation_p.R632H|DCTN1_ENST00000409868.1_Missense_Mutation_p.R652H	NM_004082.4	NP_004073.2	Q14203	DCTN1_HUMAN	dynactin 1	669					cell death|G2/M transition of mitotic cell cycle|mitosis|nervous system development	centrosome|cytosol|kinetochore|microtubule|spindle pole	motor activity|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						CTGCTCATAGCGGTGTAGCGT	0.617													7	24					0	0	1	0	0	T	74595107	C	T	74595107	3	4	329	1	0	0	0	0	1	0	0	0	4329	768	27	1	1894	1	DCTN1	2	74595107	Missense_Mutation	SNP	C	TCGA-HT-A74K-01A-11D-A32B-08	2723966	74595107	168604266	12	30764											
DPP4	1803	broad.mit.edu	37	2	162881325	162881325	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-A74K-01A-11D-A32B-08	TCGA-HT-A74K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f448f47-6b2f-403e-a474-bb14061167ad	808487c7-959f-429c-a322-da3d1f6c07c8	g.chr2:162881325T>C	ENST00000360534.3	-	11	1572	c.1012A>G	c.(1012-1014)Aac>Gac	p.N338D		NM_001935.3	NP_001926.2	P27487	DPP4_HUMAN	dipeptidyl-peptidase 4	338					cell adhesion|endothelial cell migration|negative regulation of extracellular matrix disassembly|positive regulation of cell proliferation|proteolysis|regulation of cell-cell adhesion mediated by integrin|response to hypoxia|T cell activation|T cell costimulation	apical plasma membrane|cell surface|endocytic vesicle|extracellular region|integral to membrane|invadopodium membrane|lamellipodium membrane|membrane raft	aminopeptidase activity|dipeptidyl-peptidase activity|protease binding|protein homodimerization activity|receptor activity|receptor binding|serine-type endopeptidase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	48					Sitagliptin(DB01261)	ACTAAGCAGTTCCATCTTCCA	0.463													84	113					0	0	1	0	0	C	162881325	T	C	162881325	3	2	329	1	0	0	0	0	1	0	0	0	4755	1783	62	3	1352	3	DPP4	2	162881325	Missense_Mutation	SNP	T	TCGA-HT-A74K-01A-11D-A32B-08	88286218	162881325	80318048	13	30765											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-HT-A74K-01A-11D-A32B-08	TCGA-HT-A74K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f448f47-6b2f-403e-a474-bb14061167ad	808487c7-959f-429c-a322-da3d1f6c07c8	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	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								20	44					0	0	1	0	0	T	209113112	C	T	209113112	3	4	329	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HT-A74K-01A-11D-A32B-08	46231787	209113112	34086261	14	30766											
OR5AC2	81050	broad.mit.edu	37	3	97806631	97806631	+	Silent	SNP	T	T	A			TCGA-HT-A74K-01A-11D-A32B-08	TCGA-HT-A74K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f448f47-6b2f-403e-a474-bb14061167ad	808487c7-959f-429c-a322-da3d1f6c07c8	g.chr3:97806631T>A	ENST00000358642.2	+	1	615	c.615T>A	c.(613-615)ggT>ggA	p.G205G		NM_054106.1	NP_473447.1	Q9NZP5	O5AC2_HUMAN	olfactory receptor, family 5, subfamily AC, member 2	205					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	28						TTATTTTTGGTGCTTTTATAC	0.299													17	19					0	0	1	0	0	A	97806631	T	A	97806631	2	1	329	1	0	0	0	0	0	0	0	1	11188	1683	59	5		5	OR5AC2	3	97806631	Silent	SNP	T	TCGA-HT-A74K-01A-11D-A32B-08		97806631	100215799	15	30767											
NDUFB5	4711	broad.mit.edu	37	3	179336258	179336258	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-A74K-01A-11D-A32B-08	TCGA-HT-A74K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f448f47-6b2f-403e-a474-bb14061167ad	808487c7-959f-429c-a322-da3d1f6c07c8	g.chr3:179336258A>G	ENST00000493866.1	+	3	267	c.242A>G	c.(241-243)tAt>tGt	p.Y81C	NDUFB5_ENST00000259037.3_Missense_Mutation_p.Y133C|NDUFB5_ENST00000472629.1_Missense_Mutation_p.Y121C|NDUFB5_ENST00000473500.1_3'UTR	NM_001199957.1	NP_001186886.1	O43674	NDUB5_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 5, 16kDa	133					mitochondrial electron transport, NADH to ubiquinone|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			endometrium(1)|lung(6)|skin(1)	8	all_cancers(143;9.62e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.18)		NADH(DB00157)	GAAAAGATATATGAAAGAACA	0.378													9	25					0	0	1	0	0	G	179336258	A	G	179336258	3	3	329	1	0	0	0	0	1	0	0	0	10331	449	16	3	416	3	NDUFB5	3	179336258	Missense_Mutation	SNP	A	TCGA-HT-A74K-01A-11D-A32B-08	81529627	179336258	18686172	16	30768											
UGT2B17	7367	broad.mit.edu	37	4	69433683	69433683	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A74K-01A-11D-A32B-08	TCGA-HT-A74K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f448f47-6b2f-403e-a474-bb14061167ad	808487c7-959f-429c-a322-da3d1f6c07c8	g.chr4:69433683G>A	ENST00000317746.2	-	1	562	c.520C>T	c.(520-522)Cgc>Tgc	p.R174C		NM_001077.3	NP_001068.1	O75795	UDB17_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B17	174					steroid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(14)|ovary(2)|prostate(1)	30						ACAGAGAAGCGGAGACTGTAC	0.438													10	180					0	0	1	0	0	A	69433683	G	A	69433683	3	1	329	1	0	0	0	0	1	0	0	0	17019	1116	39	1	1096	1	UGT2B17	4	69433683	Missense_Mutation	SNP	G	TCGA-HT-A74K-01A-11D-A32B-08		69433683	121720593	17	30769											
NPR3	4883	broad.mit.edu	37	5	32724855	32724855	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A74K-01A-11D-A32B-08	TCGA-HT-A74K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f448f47-6b2f-403e-a474-bb14061167ad	808487c7-959f-429c-a322-da3d1f6c07c8	g.chr5:32724855C>T	ENST00000265074.8	+	2	1164	c.821C>T	c.(820-822)gCg>gTg	p.A274V	NPR3_ENST00000434067.2_Missense_Mutation_p.A58V|NPR3_ENST00000415685.2_Missense_Mutation_p.A58V|NPR3_ENST00000415167.2_Missense_Mutation_p.A274V	NM_000908.3|NM_001204375.1	NP_000899.1|NP_001191304.1	P17342	ANPRC_HUMAN	natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C)	274					osteoclast proliferation|positive regulation of urine volume|regulation of blood pressure|regulation of osteoblast proliferation|skeletal system development	integral to membrane	hormone binding|natriuretic peptide receptor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24					Nesiritide(DB04899)	ATGCTGGTGGCGCACAGGCAT	0.532													23	25					0	0	1	0	0	T	32724855	C	T	32724855	3	4	329	1	0	0	0	0	1	0	0	0	10644	768	27	1	827	1	NPR3	5	32724855	Missense_Mutation	SNP	C	TCGA-HT-A74K-01A-11D-A32B-08		32724855	148190405	18	30770											
PIK3R1	5295	broad.mit.edu	37	5	67589156	67589158	+	In_Frame_Del	DEL	AAA	AAA	-			TCGA-HT-A74K-01A-11D-A32B-08	TCGA-HT-A74K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f448f47-6b2f-403e-a474-bb14061167ad	808487c7-959f-429c-a322-da3d1f6c07c8	g.chr5:67589156_67589158delAAA	ENST00000521381.1	+	10	1760_1762	c.1144_1146delAAA	c.(1144-1146)aaadel	p.K382del	PIK3R1_ENST00000396611.1_In_Frame_Del_p.K382del|PIK3R1_ENST00000521657.1_In_Frame_Del_p.K382del|PIK3R1_ENST00000320694.8_In_Frame_Del_p.K82del|PIK3R1_ENST00000274335.5_In_Frame_Del_p.K382del|PIK3R1_ENST00000523872.1_In_Frame_Del_p.K19del|PIK3R1_ENST00000336483.5_In_Frame_Del_p.K112del	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	382	SH2 1.				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	CAAATTAATCAAAATATTTCATC	0.32			"Mis, F, O"		"gliobastoma, ovarian, colorectal"					TCGA GBM(4;<1E-08)			32	84	---	---	---	---						-	67589158	AAA	-	67589156	7	5	329	1	0	1	0	1	0	0	0	0	11966	131	5	0	1308	0	PIK3R1	5	67589156	In_Frame_Del	DEL	AAA	TCGA-HT-A74K-01A-11D-A32B-08	34864301	67589156	113326104	19	30771											
HUS1B	135458	broad.mit.edu	37	6	656483	656483	+	Silent	SNP	G	G	A			TCGA-HT-A74K-01A-11D-A32B-08	TCGA-HT-A74K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f448f47-6b2f-403e-a474-bb14061167ad	808487c7-959f-429c-a322-da3d1f6c07c8	g.chr6:656483G>A	ENST00000380907.2	-	1	480	c.462C>T	c.(460-462)gaC>gaT	p.D154D	EXOC2_ENST00000448181.3_Intron|EXOC2_ENST00000230449.4_Intron	NM_148959.3	NP_683762.2	Q8NHY5	HUS1B_HUMAN	HUS1 checkpoint homolog b (S. pombe)	154										endometrium(3)|large_intestine(1)|lung(7)	11	Ovarian(93;0.0733)	Breast(5;0.00139)|all_lung(73;0.0691)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.041)|BRCA - Breast invasive adenocarcinoma(62;0.0965)		GGATGCTCGCGTCGGAGGCGC	0.701													18	57					0	0	1	0	0	A	656483	G	A	656483	2	1	329	1	0	0	0	0	0	0	0	1	7504	1136	40	1		1	HUS1B	6	656483	Silent	SNP	G	TCGA-HT-A74K-01A-11D-A32B-08		656483	170458584	20	30772											
PHF3	23469	broad.mit.edu	37	6	64404570	64404570	+	Missense_Mutation	SNP	C	C	T	rs139681301		TCGA-HT-A74K-01A-11D-A32B-08	TCGA-HT-A74K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f448f47-6b2f-403e-a474-bb14061167ad	808487c7-959f-429c-a322-da3d1f6c07c8	g.chr6:64404570C>T	ENST00000262043.3	+	6	2936	c.2596C>T	c.(2596-2598)Cgg>Tgg	p.R866W	PHF3_ENST00000393387.1_Missense_Mutation_p.R866W			Q92576	PHF3_HUMAN	PHD finger protein 3	866					multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding	p.R866R(1)		breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			AGTTTTACCTCGGAGATCCTC	0.403													6	168					0	0	1	0	0	T	64404570	C	T	64404570	3	4	329	1	0	0	0	0	1	0	0	0	11884	875	31	1	2614	1	PHF3	6	64404570	Missense_Mutation	SNP	C	TCGA-HT-A74K-01A-11D-A32B-08	63748087	64404570	106710497	21	30773											
VGLL2	245806	broad.mit.edu	37	6	117593623	117593623	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A74K-01A-11D-A32B-08	TCGA-HT-A74K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f448f47-6b2f-403e-a474-bb14061167ad	808487c7-959f-429c-a322-da3d1f6c07c8	g.chr6:117593623G>A	ENST00000326274.5	+	4	1110	c.920G>A	c.(919-921)cGt>cAt	p.R307H	VGLL2_ENST00000352536.3_Missense_Mutation_p.R133H	NM_182645.3	NP_872586.1	Q8N8G2	VGLL2_HUMAN	vestigial like 2 (Drosophila)	307					transcription, DNA-dependent	nucleus				central_nervous_system(1)|kidney(1)|lung(3)	5				GBM - Glioblastoma multiforme(226;0.0254)|all cancers(137;0.0676)|OV - Ovarian serous cystadenocarcinoma(136;0.0757)		GCAGCTCGTCGTTATTCCCTC	0.532													102	206					0	0	1	0	0	A	117593623	G	A	117593623	3	1	329	1	0	0	0	0	1	0	0	0	17219	1145	40	1	934	1	VGLL2	6	117593623	Missense_Mutation	SNP	G	TCGA-HT-A74K-01A-11D-A32B-08	53189053	117593623	53521444	22	30774											
ECT2L	345930	broad.mit.edu	37	6	139186182	139186182	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-A74K-01A-11D-A32B-08	TCGA-HT-A74K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f448f47-6b2f-403e-a474-bb14061167ad	808487c7-959f-429c-a322-da3d1f6c07c8	g.chr6:139186182C>G	ENST00000423192.1	+	11	1502	c.1341C>G	c.(1339-1341)atC>atG	p.I447M	ECT2L_ENST00000541398.1_Missense_Mutation_p.I378M|ECT2L_ENST00000495970.1_3'UTR|ECT2L_ENST00000367682.2_Missense_Mutation_p.I447M			Q008S8	ECT2L_HUMAN	epithelial cell transforming sequence 2 oncogene-like	447					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(1)	30						CCTCTTCCATCTACTTCTGCG	0.453			"N, Splice, Mis"		ETP ALL								9	27					0	0	1	0	0	G	139186182	C	G	139186182	3	3	329	1	0	0	0	0	1	0	0	0	4928	903	32	4	1379	4	ECT2L	6	139186182	Missense_Mutation	SNP	C	TCGA-HT-A74K-01A-11D-A32B-08	21592559	139186182	31928885	23	30775											
NPC1L1	29881	broad.mit.edu	37	7	44575860	44575860	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A74K-01A-11D-A32B-08	TCGA-HT-A74K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f448f47-6b2f-403e-a474-bb14061167ad	808487c7-959f-429c-a322-da3d1f6c07c8	g.chr7:44575860C>T	ENST00000289547.4	-	4	1904	c.1849G>A	c.(1849-1851)Gct>Act	p.A617T	NPC1L1_ENST00000546276.1_Missense_Mutation_p.A617T|NPC1L1_ENST00000423141.1_Missense_Mutation_p.A617T|NPC1L1_ENST00000381160.3_Missense_Mutation_p.A617T	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	617					cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	CCTACCTCAGCCATGAACGTG	0.637													4	68					0	0	1	0	0	T	44575860	C	T	44575860	3	4	329	1	0	0	0	0	1	0	0	0	10618	739	26	2	2298	2	NPC1L1	7	44575860	Missense_Mutation	SNP	C	TCGA-HT-A74K-01A-11D-A32B-08		44575860	114562803	24	30776											
LMTK2	22853	broad.mit.edu	37	7	97821950	97821950	+	Missense_Mutation	SNP	T	T	G			TCGA-HT-A74K-01A-11D-A32B-08	TCGA-HT-A74K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f448f47-6b2f-403e-a474-bb14061167ad	808487c7-959f-429c-a322-da3d1f6c07c8	g.chr7:97821950T>G	ENST00000297293.5	+	11	2466	c.2173T>G	c.(2173-2175)Ttt>Gtt	p.F725V		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	725					early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					AAACTTTTTATTTCTTCAAGA	0.328													12	59					0	0	1	0	0	G	97821950	T	G	97821950	3	3	329	1	0	0	0	0	1	0	0	0	8900	1493	52	4	2215	4	LMTK2	7	97821950	Missense_Mutation	SNP	T	TCGA-HT-A74K-01A-11D-A32B-08	53246090	97821950	61316713	25	30777											
BRD3	8019	broad.mit.edu	37	9	136901336	136901336	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-A74K-01A-11D-A32B-08	TCGA-HT-A74K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f448f47-6b2f-403e-a474-bb14061167ad	808487c7-959f-429c-a322-da3d1f6c07c8	g.chr9:136901336T>C	ENST00000303407.7	-	10	1939	c.1754A>G	c.(1753-1755)aAc>aGc	p.N585S	BRD3_ENST00000473349.1_5'UTR|BRD3_ENST00000371834.2_3'UTR	NM_007371.3	NP_031397.1	Q15059	BRD3_HUMAN	bromodomain containing 3	585						nucleus	protein binding		BRD3/C15orf55(3)	kidney(1)|skin(1)|stomach(4)	6				OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07)		GGGCAGCCGGTTGATGTCCAG	0.592			T	C15orf55	lethal midline carcinoma of young people								9	20					0	0	1	0	0	C	136901336	T	C	136901336	3	2	329	1	0	0	0	0	1	0	0	0	1505	1725	60	3	438	3	BRD3	9	136901336	Missense_Mutation	SNP	T	TCGA-HT-A74K-01A-11D-A32B-08		136901336	4312095	26	30778											
CUBN	8029	broad.mit.edu	37	10	16941019	16941019	+	Silent	SNP	T	T	C			TCGA-HT-A74K-01A-11D-A32B-08	TCGA-HT-A74K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f448f47-6b2f-403e-a474-bb14061167ad	808487c7-959f-429c-a322-da3d1f6c07c8	g.chr10:16941019T>C	ENST00000377833.4	-	54	8639	c.8574A>G	c.(8572-8574)ggA>ggG	p.G2858G		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	2858	CUB 21.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TCTGACATTGTCCATCACCGC	0.403													38	73					0	0	1	0	0	C	16941019	T	C	16941019	2	2	329	1	0	0	0	0	0	0	0	1	4074	1654	58	3		3	CUBN	10	16941019	Silent	SNP	T	TCGA-HT-A74K-01A-11D-A32B-08		16941019	118593728	27	30779											
MRGPRX3	117195	broad.mit.edu	37	11	18158872	18158872	+	Silent	SNP	G	G	A			TCGA-HT-A74K-01A-11D-A32B-08	TCGA-HT-A74K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f448f47-6b2f-403e-a474-bb14061167ad	808487c7-959f-429c-a322-da3d1f6c07c8	g.chr11:18158872G>A	ENST00000396275.2	+	3	484	c.123G>A	c.(121-123)gcG>gcA	p.A41A		NM_054031.3	NP_473372.3	Q96LB0	MRGX3_HUMAN	MAS-related GPR, member X3	41						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						CCCTTGTCGCGCTGACAGGAA	0.592													4	110					0	0	1	0	0	A	18158872	G	A	18158872	2	1	329	1	0	0	0	0	0	0	0	1	9817	1074	38	1		1	MRGPRX3	11	18158872	Silent	SNP	G	TCGA-HT-A74K-01A-11D-A32B-08		18158872	116847644	28	30780											
OR8H3	390152	broad.mit.edu	37	11	55890648	55890648	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A74K-01A-11D-A32B-08	TCGA-HT-A74K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f448f47-6b2f-403e-a474-bb14061167ad	808487c7-959f-429c-a322-da3d1f6c07c8	g.chr11:55890648C>T	ENST00000313472.3	+	1	800	c.800C>T	c.(799-801)tCc>tTc	p.S267F		NM_001005201.1	NP_001005201.1	Q8N146	OR8H3_HUMAN	olfactory receptor, family 8, subfamily H, member 3	267					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42	Esophageal squamous(21;0.00693)					AAGTCTTATTCCTTGGGAAGA	0.378													29	108					0	0	1	0	0	T	55890648	C	T	55890648	3	4	329	1	0	0	0	0	1	0	0	0	11286	855	30	2	802	2	OR8H3	11	55890648	Missense_Mutation	SNP	C	TCGA-HT-A74K-01A-11D-A32B-08	37731776	55890648	79115868	29	30781											
DAK	26007	broad.mit.edu	37	11	61109956	61109956	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A74K-01A-11D-A32B-08	TCGA-HT-A74K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f448f47-6b2f-403e-a474-bb14061167ad	808487c7-959f-429c-a322-da3d1f6c07c8	g.chr11:61109956C>T	ENST00000394900.3	+	8	908	c.679C>T	c.(679-681)Cgc>Tgc	p.R227C		NM_015533.3	NP_056348.2	Q3LXA3	DHAK_HUMAN	dihydroxyacetone kinase 2 homolog (S. cerevisiae)	227	DhaK.				glycerol metabolic process	cytosol	ATP binding|FAD-AMP lyase (cyclizing) activity|glycerone kinase activity|metal ion binding			NS(1)|breast(3)|endometrium(3)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	23						AGCTGGTGTGCGCCGGATAAA	0.592													4	120					0	0	1	0	0	T	61109956	C	T	61109956	3	4	329	1	0	0	0	0	1	0	0	0	4252	768	27	1	705	1	DAK	11	61109956	Missense_Mutation	SNP	C	TCGA-HT-A74K-01A-11D-A32B-08	5219308	61109956	73896560	30	30782											
ACSS3	79611	broad.mit.edu	37	12	81503360	81503360	+	Silent	SNP	C	C	T			TCGA-HT-A74K-01A-11D-A32B-08	TCGA-HT-A74K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f448f47-6b2f-403e-a474-bb14061167ad	808487c7-959f-429c-a322-da3d1f6c07c8	g.chr12:81503360C>T	ENST00000548058.1	+	2	1243	c.333C>T	c.(331-333)aaC>aaT	p.N111N	RP11-543H12.1_ENST00000547123.1_RNA|ACSS3_ENST00000261206.3_Silent_p.N110N			Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3	111						mitochondrion	acetate-CoA ligase activity|ATP binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						GAATGCTTAACATTTGTTACA	0.313													16	24					0	0	1	0	0	T	81503360	C	T	81503360	2	4	329	1	0	0	0	0	0	0	0	1	190	477	17	2		2	ACSS3	12	81503360	Silent	SNP	C	TCGA-HT-A74K-01A-11D-A32B-08		81503360	52348535	31	30783											
CLIP1	6249	broad.mit.edu	37	12	122812878	122812878	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-A74K-01A-11D-A32B-08	TCGA-HT-A74K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f448f47-6b2f-403e-a474-bb14061167ad	808487c7-959f-429c-a322-da3d1f6c07c8	g.chr12:122812878T>C	ENST00000358808.2	-	15	3084	c.2930A>G	c.(2929-2931)cAg>cGg	p.Q977R	CLIP1_ENST00000361654.4_Missense_Mutation_p.Q866R|CLIP1_ENST00000545889.1_Missense_Mutation_p.Q563R|CLIP1_ENST00000537178.1_Missense_Mutation_p.Q942R|CLIP1_ENST00000540338.1_Missense_Mutation_p.Q988R|CLIP1_ENST00000302528.7_Missense_Mutation_p.Q977R	NM_001247997.1|NM_002956.2	NP_001234926.1|NP_002947.1	P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1	988					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)		TTGCTGGCTCTGTTCAGCTTT	0.403													106	143					0	0	1	0	0	C	122812878	T	C	122812878	3	2	329	1	0	0	0	0	1	0	0	0	3555	1580	55	3	1397	3	CLIP1	12	122812878	Missense_Mutation	SNP	T	TCGA-HT-A74K-01A-11D-A32B-08	41309518	122812878	11039017	32	30784											
BRCA2	675	broad.mit.edu	37	13	32907209	32907209	+	Missense_Mutation	SNP	G	G	A	rs138734772		TCGA-HT-A74K-01A-11D-A32B-08	TCGA-HT-A74K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f448f47-6b2f-403e-a474-bb14061167ad	808487c7-959f-429c-a322-da3d1f6c07c8	g.chr13:32907209G>A	ENST00000544455.1	+	10	1821	c.1594G>A	c.(1594-1596)Gaa>Aaa	p.E532K	BRCA2_ENST00000380152.3_Missense_Mutation_p.E532K	NM_000059.3	NP_000050	P51587	BRCA2_HUMAN	breast cancer 2, early onset	532					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		CTTTAAAAAAGAAACTGAAGC	0.368			"D, Mis, N, F, S"		"breast, ovarian, pancreatic"	"breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			36	105					0	0	1	0	0	A	32907209	G	A	32907209	3	1	329	1	0	0	0	0	1	0	0	0	1501	943	33	2	1628	2	BRCA2	13	32907209	Missense_Mutation	SNP	G	TCGA-HT-A74K-01A-11D-A32B-08		32907209	82262669	33	30785											
HNF1B	6928	broad.mit.edu	37	17	36104728	36104728	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-A74K-01A-11D-A32B-08	TCGA-HT-A74K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f448f47-6b2f-403e-a474-bb14061167ad	808487c7-959f-429c-a322-da3d1f6c07c8	g.chr17:36104728G>T	ENST00000225893.4	-	1	509	c.148C>A	c.(148-150)Cct>Act	p.P50T	HNF1B_ENST00000561193.1_Missense_Mutation_p.P50T|HNF1B_ENST00000427275.2_Missense_Mutation_p.P50T|HNF1B_ENST00000560016.1_Missense_Mutation_p.P50T	NM_000458.2|NM_001165923.1	NP_000449.1|NP_001159395.1	P35680	HNF1B_HUMAN	HNF1 homeobox B	50					endocrine pancreas development|genitalia development|kidney development|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric nephron tubule development|regulation of pronephros size	nucleus	DNA binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(3)|large_intestine(2)|liver(1)|lung(3)|ovary(3)|prostate(1)|skin(2)	28		Breast(25;0.00765)|Ovarian(249;0.15)	STAD - Stomach adenocarcinoma(1;0.0142)			CCGCTGCCAGGGGACAGGGGC	0.682													10	25					7.48243e-07	7.97041e-07	1	1	0	T	36104728	G	T	36104728	3	4	329	1	0	0	0	0	1	0	0	0	7293	1232	43	5	1561	5	HNF1B	17	36104728	Missense_Mutation	SNP	G	TCGA-HT-A74K-01A-11D-A32B-08		36104728	45090482	34	30786											
ZNF91	7644	broad.mit.edu	37	19	23544148	23544148	+	Missense_Mutation	SNP	G	G	C			TCGA-HT-A74K-01A-11D-A32B-08	TCGA-HT-A74K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f448f47-6b2f-403e-a474-bb14061167ad	808487c7-959f-429c-a322-da3d1f6c07c8	g.chr19:23544148G>C	ENST00000300619.7	-	4	1838	c.1633C>G	c.(1633-1635)Ccc>Gcc	p.P545A	ZNF91_ENST00000397082.2_Missense_Mutation_p.P513A|ZNF91_ENST00000599743.1_Intron	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	545						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding						all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				CATTTGTAGGGTTTCTCTCTA	0.328													11	30					0	0	1	0	0	C	23544148	G	C	23544148	3	2	329	1	0	0	0	0	1	0	0	0	18242	1261	44	5	1946	5	ZNF91	19	23544148	Missense_Mutation	SNP	G	TCGA-HT-A74K-01A-11D-A32B-08		23544148	35584835	35	30787											
GRWD1	83743	broad.mit.edu	37	19	48953645	48953645	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A74K-01A-11D-A32B-08	TCGA-HT-A74K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f448f47-6b2f-403e-a474-bb14061167ad	808487c7-959f-429c-a322-da3d1f6c07c8	g.chr19:48953645C>T	ENST00000253237.5	+	4	777	c.544C>T	c.(544-546)Cgg>Tgg	p.R182W		NM_031485.3	NP_113673.3	Q9BQ67	GRWD1_HUMAN	glutamate-rich WD repeat containing 1	182						nucleolus				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|stomach(1)	19		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000206)|all cancers(93;0.000207)|Epithelial(262;0.0125)|GBM - Glioblastoma multiforme(486;0.0222)		TGCGCTGCGGCGGCTTCTGCA	0.647													10	21					0	0	1	0	0	T	48953645	C	T	48953645	3	4	329	1	0	0	0	0	1	0	0	0	6852	759	27	1	558	1	GRWD1	19	48953645	Missense_Mutation	SNP	C	TCGA-HT-A74K-01A-11D-A32B-08	25409497	48953645	10175338	36	30788											
TPTE	7179	broad.mit.edu	37	21	10943011	10943011	+	Missense_Mutation	SNP	A	A	T			TCGA-HT-A74K-01A-11D-A32B-08	TCGA-HT-A74K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f448f47-6b2f-403e-a474-bb14061167ad	808487c7-959f-429c-a322-da3d1f6c07c8	g.chr21:10943011A>T	ENST00000298232.7	-	11	889	c.522T>A	c.(520-522)caT>caA	p.H174Q	TPTE_ENST00000342420.5_Missense_Mutation_p.H154Q|TPTE_ENST00000361285.4_Missense_Mutation_p.H192Q|TPTE_ENST00000415664.2_5'UTR	NM_199259.2	NP_954868	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	192					signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			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)		GTCGAAGTAAATGTGTCCATC	0.328													10	64					0	0	1	0	0	T	10943011	A	T	10943011	3	4	329	1	0	0	0	0	1	0	0	0	16491	98	4	4	1131	4	TPTE	21	10943011	Missense_Mutation	SNP	A	TCGA-HT-A74K-01A-11D-A32B-08		10943011	37186884	37	30789											
HMGXB4	10042	broad.mit.edu	37	22	35659135	35659136	+	Frame_Shift_Ins	INS	-	-	A	rs79846609		TCGA-HT-A74K-01A-11D-A32B-08	TCGA-HT-A74K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f448f47-6b2f-403e-a474-bb14061167ad	808487c7-959f-429c-a322-da3d1f6c07c8	g.chr22:35659135_35659136insA	ENST00000216106.5	+	3	224_225	c.96_97insA	c.(97-99)aaafs	p.K33fs	HMGXB4_ENST00000444518.2_5'UTR	NM_001003681.2	NP_001003681.1	Q9UGU5	HMGX4_HUMAN	HMG box domain containing 4	33					endosome to lysosome transport|negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	NURF complex	DNA binding			breast(1)|endometrium(1)|large_intestine(6)|liver(1)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GCCAACGAGAGAAAAAACGTTC	0.401													14	50	---	---	---	---						A	35659136	-	A	35659135	7	5	329	1	0	1	1	0	0	0	0	0	7280	933	33	0	102	0	HMGXB4	22	35659135	Frame_Shift_Ins	INS	-	TCGA-HT-A74K-01A-11D-A32B-08		35659135	15645431	38	30790											
DNAJB7	150353	broad.mit.edu	37	22	41257114	41257115	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HT-A74K-01A-11D-A32B-08	TCGA-HT-A74K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f448f47-6b2f-403e-a474-bb14061167ad	808487c7-959f-429c-a322-da3d1f6c07c8	g.chr22:41257114_41257115insT	ENST00000307221.4	-	1	1015_1016	c.884_885insA	c.(883-885)aagfs	p.K295fs	XPNPEP3_ENST00000357137.4_Intron|XPNPEP3_ENST00000541156.1_Intron|XPNPEP3_ENST00000482652.1_Intron|XPNPEP3_ENST00000414396.1_Intron	NM_145174.1	NP_660157.1	Q7Z6W7	DNJB7_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 7	295	Poly-Lys.				protein folding		heat shock protein binding|unfolded protein binding			breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	10						CTTTACGCTTCTTTTTTTTCCT	0.381													29	85	---	---	---	---						T	41257115	-	T	41257114	7	5	329	1	0	1	1	0	0	0	0	0	4652	912	32	0	48	0	DNAJB7	22	41257114	Frame_Shift_Ins	INS	-	TCGA-HT-A74K-01A-11D-A32B-08	5597979	41257114	10047452	39	30791											
TBC1D22A	25771	broad.mit.edu	37	22	47287286	47287286	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A74K-01A-11D-A32B-08	TCGA-HT-A74K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f448f47-6b2f-403e-a474-bb14061167ad	808487c7-959f-429c-a322-da3d1f6c07c8	g.chr22:47287286G>A	ENST00000337137.4	+	6	999	c.833G>A	c.(832-834)aGg>aAg	p.R278K	TBC1D22A_ENST00000407381.3_Missense_Mutation_p.R219K|TBC1D22A_ENST00000406733.1_Missense_Mutation_p.R231K|TBC1D22A_ENST00000355704.3_Missense_Mutation_p.R200K|TBC1D22A_ENST00000380995.1_Missense_Mutation_p.R231K	NM_001284304.1|NM_001284305.1|NM_014346.2	NP_001271233.1|NP_001271234.1|NP_055161.1	Q8WUA7	TB22A_HUMAN	TBC1 domain family, member 22A	278	Rab-GAP TBC.					intracellular	protein homodimerization activity|Rab GTPase activator activity			breast(1)|endometrium(3)|large_intestine(10)|lung(5)|ovary(2)|prostate(1)	22		all_cancers(38;4.44e-05)|all_epithelial(38;0.000507)|Breast(42;0.0488)|all_lung(38;0.0682)|Ovarian(80;0.0731)|all_neural(38;0.0966)|Glioma(61;0.222)|Lung SC(80;0.236)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0347)|BRCA - Breast invasive adenocarcinoma(115;0.231)		GACACATACAGGCAGGTGGGA	0.403													4	90					0	0	1	0	0	A	47287286	G	A	47287286	3	1	329	1	0	0	0	0	1	0	0	0	15668	1000	35	2	855	2	TBC1D22A	22	47287286	Missense_Mutation	SNP	G	TCGA-HT-A74K-01A-11D-A32B-08	6030172	47287286	4017280	40	30792											
ACSL4	2182	broad.mit.edu	37	X	108911384	108911384	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-A74K-01A-11D-A32B-08	TCGA-HT-A74K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f448f47-6b2f-403e-a474-bb14061167ad	808487c7-959f-429c-a322-da3d1f6c07c8	g.chrX:108911384T>C	ENST00000340800.2	-	12	1888	c.1384A>G	c.(1384-1386)Att>Gtt	p.I462V	ACSL4_ENST00000469796.2_Missense_Mutation_p.I462V|ACSL4_ENST00000348502.6_Missense_Mutation_p.I421V	NM_022977.2	NP_075266.1	O60488	ACSL4_HUMAN	acyl-CoA synthetase long-chain family member 4	462					fatty acid metabolic process|learning or memory|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)	22					Icosapent(DB00159)|Troglitazone(DB00197)	CCCTGGCCAATTGGGCAGCAG	0.498													5	104					0	0	1	0	0	C	108911384	T	C	108911384	3	2	329	1	0	0	0	0	1	0	0	0	179	1493	52	3	775	3	ACSL4	23	108911384	Missense_Mutation	SNP	T	TCGA-HT-A74K-01A-11D-A32B-08		108911384	46359176	41	30793											
KIAA1522	57648	broad.mit.edu	37	1	33235364	33235364	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A74L-01A-11D-A32B-08	TCGA-HT-A74L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a858a98-7ba6-482e-ae4b-0d55b308b392	a88c4c8f-c82c-433b-acae-b00d5623e077	g.chr1:33235364C>T	ENST00000401073.2	+	5	747	c.677C>T	c.(676-678)cCg>cTg	p.P226L	KIAA1522_ENST00000373480.1_Missense_Mutation_p.P167L|KIAA1522_ENST00000294521.3_Intron|KIAA1522_ENST00000373481.3_Missense_Mutation_p.P178L	NM_020888.2	NP_065939.2	Q9P206	K1522_HUMAN	KIAA1522	167										breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				CTGGGACTCCCGCAGCATGTG	0.657													6	4					0	0	1	0	0	T	33235364	C	T	33235364	3	4	330	1	0	0	0	0	1	0	0	0	8280	652	23	1	695	1	KIAA1522	1	33235364	Missense_Mutation	SNP	C	TCGA-HT-A74L-01A-11D-A32B-08		33235364	216015257	1	30794											
MACF1	23499	broad.mit.edu	37	1	39924150	39924150	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A74L-01A-11D-A32B-08	TCGA-HT-A74L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a858a98-7ba6-482e-ae4b-0d55b308b392	a88c4c8f-c82c-433b-acae-b00d5623e077	g.chr1:39924150C>T	ENST00000564288.1	+	90	21961	c.21184C>T	c.(21184-21186)Cgc>Tgc	p.R7062C	MACF1_ENST00000289893.4_Missense_Mutation_p.R5505C|MACF1_ENST00000539005.1_Missense_Mutation_p.R4873C|MACF1_ENST00000317713.7_Missense_Mutation_p.R5003C|MACF1_ENST00000567887.1_Missense_Mutation_p.R7099C|MACF1_ENST00000372915.3_Missense_Mutation_p.R6961C|MACF1_ENST00000361689.2_Missense_Mutation_p.R5003C|MACF1_ENST00000545844.1_Missense_Mutation_p.R5003C			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	6961	EF-hand 1.				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	p.R5505S(1)|p.R5003S(1)		breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AGAGAAATCCCGCAGCGGAGG	0.468													16	2					0	0	1	0	0	T	39924150	C	T	39924150	3	4	330	1	0	0	0	0	1	0	0	0	9190	652	23	1	21500	1	MACF1	1	39924150	Missense_Mutation	SNP	C	TCGA-HT-A74L-01A-11D-A32B-08	6688786	39924150	209326471	2	30795											
LY9	4063	broad.mit.edu	37	1	160786485	160786485	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A74L-01A-11D-A32B-08	TCGA-HT-A74L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a858a98-7ba6-482e-ae4b-0d55b308b392	a88c4c8f-c82c-433b-acae-b00d5623e077	g.chr1:160786485G>A	ENST00000368037.5	+	5	1288	c.1174G>A	c.(1174-1176)Gtc>Atc	p.V392I	LY9_ENST00000263285.6_Missense_Mutation_p.V392I|LY9_ENST00000368040.1_Missense_Mutation_p.V44I|LY9_ENST00000368041.2_Intron|LY9_ENST00000341032.4_Intron|LY9_ENST00000392203.4_Intron	NM_001261456.1|NM_002348.3	NP_001248385.1|NP_002339.2	Q9HBG7	LY9_HUMAN	lymphocyte antigen 9		Ig-like C2-type 2.				cell adhesion|immunoglobulin mediated immune response	integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			GGGAAACACTGTCATGTACAC	0.557													3	33					0	0	1	0	0	A	160786485	G	A	160786485	3	1	330	1	0	0	0	0	1	0	0	0	9147	1377	48	2	1324	2	LY9	1	160786485	Missense_Mutation	SNP	G	TCGA-HT-A74L-01A-11D-A32B-08	120862335	160786485	88464136	3	30796											
MYO3B	140469	broad.mit.edu	37	2	171259406	171259406	+	Silent	SNP	C	C	T			TCGA-HT-A74L-01A-11D-A32B-08	TCGA-HT-A74L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a858a98-7ba6-482e-ae4b-0d55b308b392	a88c4c8f-c82c-433b-acae-b00d5623e077	g.chr2:171259406C>T	ENST00000334231.6	+	19	2205	c.2205C>T	c.(2203-2205)ttC>ttT	p.F735F	MYO3B_ENST00000409044.3_Silent_p.F726F|MYO3B_ENST00000408978.4_Silent_p.F726F|MYO3B_ENST00000602629.1_3'UTR			Q8WXR4	MYO3B_HUMAN	myosin IIIB	726	Myosin head-like.				response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						TCTTTGGATTCGAGAATTTTC	0.418													40	52					0	0	1	0	0	T	171259406	C	T	171259406	2	4	330	1	0	0	0	0	0	0	0	1	10125	883	31	1		1	MYO3B	2	171259406	Silent	SNP	C	TCGA-HT-A74L-01A-11D-A32B-08		171259406	71939967	4	30797											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-HT-A74L-01A-11D-A32B-08	TCGA-HT-A74L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a858a98-7ba6-482e-ae4b-0d55b308b392	a88c4c8f-c82c-433b-acae-b00d5623e077	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	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								15	28					0	0	1	0	0	T	209113112	C	T	209113112	3	4	330	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HT-A74L-01A-11D-A32B-08	37853706	209113112	34086261	5	30798											
SLC22A13	9390	broad.mit.edu	37	3	38317561	38317561	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-A74L-01A-11D-A32B-08	TCGA-HT-A74L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a858a98-7ba6-482e-ae4b-0d55b308b392	a88c4c8f-c82c-433b-acae-b00d5623e077	g.chr3:38317561G>T	ENST00000311856.4	+	7	1260	c.1211G>T	c.(1210-1212)tGt>tTt	p.C404F	SLC22A13_ENST00000450935.2_3'UTR	NM_004256.3	NP_004247.2	Q9Y226	S22AD_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 13	404						integral to plasma membrane	organic cation transmembrane transporter activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|urinary_tract(1)	20				KIRC - Kidney renal clear cell carcinoma(284;0.0533)|Kidney(284;0.067)		GGCCTGATGTGTATCATCATC	0.597													7	6					5.4927e-09	6.12648e-09	1	1	0	T	38317561	G	T	38317561	3	4	330	1	0	0	0	0	1	0	0	0	14499	1377	48	5	1237	5	SLC22A13	3	38317561	Missense_Mutation	SNP	G	TCGA-HT-A74L-01A-11D-A32B-08		38317561	159704869	6	30799											
SMC4	10051	broad.mit.edu	37	3	160149454	160149454	+	Silent	SNP	T	T	A			TCGA-HT-A74L-01A-11D-A32B-08	TCGA-HT-A74L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a858a98-7ba6-482e-ae4b-0d55b308b392	a88c4c8f-c82c-433b-acae-b00d5623e077	g.chr3:160149454T>A	ENST00000357388.3	+	21	3589	c.3138T>A	c.(3136-3138)ccT>ccA	p.P1046P	RP11-432B6.3_ENST00000483754.1_Intron|SMC4_ENST00000462787.1_Silent_p.P988P|SMC4_ENST00000469762.1_Silent_p.P1021P|SMC4_ENST00000360111.2_Silent_p.P988P|SMC4_ENST00000344722.5_Silent_p.P1046P	NM_001002800.1	NP_001002800.1	Q9NTJ3	SMC4_HUMAN	structural maintenance of chromosomes 4	1046					cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	ATP binding|protein heterodimerization activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			CACTGCATCCTATAGAAGATA	0.313													18	24					0	0	1	0	0	A	160149454	T	A	160149454	2	1	330	1	0	0	0	0	0	0	0	1	14839	1509	53	5		5	SMC4	3	160149454	Silent	SNP	T	TCGA-HT-A74L-01A-11D-A32B-08	121831893	160149454	37872976	7	30800											
GPR125	166647	broad.mit.edu	37	4	22390767	22390767	+	Silent	SNP	G	G	A	rs138178541	byFrequency	TCGA-HT-A74L-01A-11D-A32B-08	TCGA-HT-A74L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a858a98-7ba6-482e-ae4b-0d55b308b392	a88c4c8f-c82c-433b-acae-b00d5623e077	g.chr4:22390767G>A	ENST00000334304.5	-	18	2936	c.2667C>T	c.(2665-2667)tgC>tgT	p.C889C	GPR125_ENST00000282943.5_5'UTR	NM_145290.3	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	889					neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity	p.C889C(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				CAGTTATGCCGCAAACAATGA	0.423													4	186					0	0	1	0	0	A	22390767	G	A	22390767	2	1	330	1	0	0	0	0	0	0	0	1	6679	1079	38	1		1	GPR125	4	22390767	Silent	SNP	G	TCGA-HT-A74L-01A-11D-A32B-08		22390767	168763509	8	30801											
ELOVL6	79071	broad.mit.edu	37	4	110972670	110972670	+	Missense_Mutation	SNP	T	T	G			TCGA-HT-A74L-01A-11D-A32B-08	TCGA-HT-A74L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a858a98-7ba6-482e-ae4b-0d55b308b392	a88c4c8f-c82c-433b-acae-b00d5623e077	g.chr4:110972670T>G	ENST00000394607.3	-	5	785	c.622A>C	c.(622-624)Atg>Ctg	p.M208L	ELOVL6_ENST00000302274.3_Missense_Mutation_p.M208L			Q9H5J4	ELOV6_HUMAN	ELOVL fatty acid elongase 6	208					fatty acid elongation, saturated fatty acid|long-chain fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process		fatty acid elongase activity|protein binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	8				OV - Ovarian serous cystadenocarcinoma(123;0.00462)		ACACAGCCCATCAGCATCTGA	0.522													18	29					0	0	1	0	0	G	110972670	T	G	110972670	3	3	330	1	0	0	0	0	1	0	0	0	5106	1435	50	4	179	4	ELOVL6	4	110972670	Missense_Mutation	SNP	T	TCGA-HT-A74L-01A-11D-A32B-08	88581903	110972670	80181606	9	30802											
NPR2	4882	broad.mit.edu	37	9	35801065	35801065	+	Splice_Site	SNP	A	A	G			TCGA-HT-A74L-01A-11D-A32B-08	TCGA-HT-A74L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a858a98-7ba6-482e-ae4b-0d55b308b392	a88c4c8f-c82c-433b-acae-b00d5623e077	g.chr9:35801065A>G	ENST00000342694.2	+	7	1606		c.e7-1			NM_003995.3	NP_003986.2	P20594	ANPRB_HUMAN	natriuretic peptide receptor B/guanylate cyclase B (atrionatriuretic peptide receptor B)						intracellular signal transduction|ossification|receptor guanylyl cyclase signaling pathway|regulation of blood pressure	integral to membrane|plasma membrane	GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|protein kinase activity|transmembrane receptor activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)	TTTCCCCTTCAGCTCCACTTT	0.507													43	61					0	0	1	0	0	G	35801065	A	G	35801065	5	3	330	1	0	0	0	0	0	0	1	0	10643	202	7	3	1376	3	NPR2	9	35801065	Splice_Site	SNP	A	TCGA-HT-A74L-01A-11D-A32B-08		35801065	105412366	10	30803											
PRKG1	5592	broad.mit.edu	37	10	53893606	53893606	+	Silent	SNP	T	T	C			TCGA-HT-A74L-01A-11D-A32B-08	TCGA-HT-A74L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a858a98-7ba6-482e-ae4b-0d55b308b392	a88c4c8f-c82c-433b-acae-b00d5623e077	g.chr10:53893606T>C	ENST00000373980.4	+	8	1359	c.942T>C	c.(940-942)gaT>gaC	p.D314D	PRKG1_ENST00000373975.2_Silent_p.D17D|PRKG1_ENST00000373985.1_Silent_p.D287D|PRKG1_ENST00000401604.2_Silent_p.D299D	NM_006258.3	NP_006249.1	Q13976	KGP1_HUMAN	protein kinase, cGMP-dependent, type I	299					actin cytoskeleton organization|platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	53		all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173)		all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606)		ATAGGGAAGATGTGAGAACAG	0.318													12	19					0	0	1	0	0	C	53893606	T	C	53893606	2	2	330	1	0	0	0	0	0	0	0	1	12574	1461	51	3		3	PRKG1	10	53893606	Silent	SNP	T	TCGA-HT-A74L-01A-11D-A32B-08		53893606	81641141	11	30804											
SPOCK2	9806	broad.mit.edu	37	10	73827469	73827469	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-A74L-01A-11D-A32B-08	TCGA-HT-A74L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a858a98-7ba6-482e-ae4b-0d55b308b392	a88c4c8f-c82c-433b-acae-b00d5623e077	g.chr10:73827469A>G	ENST00000373109.2	-	7	1055	c.611T>C	c.(610-612)cTg>cCg	p.L204P	SPOCK2_ENST00000536168.1_Missense_Mutation_p.L204P|SPOCK2_ENST00000317376.4_Missense_Mutation_p.L204P|SPOCK2_ENST00000460053.1_5'UTR	NM_001244950.1	NP_001231879.1	Q92563	TICN2_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 2	204					extracellular matrix organization|regulation of cell differentiation|signal transduction|synapse assembly	proteinaceous extracellular matrix	calcium ion binding			endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						CAGGTCAGCCAGGTCCTGACC	0.612													4	3					0	0	1	0	0	G	73827469	A	G	73827469	3	3	330	1	0	0	0	0	1	0	0	0	15136	188	7	3	683	3	SPOCK2	10	73827469	Missense_Mutation	SNP	A	TCGA-HT-A74L-01A-11D-A32B-08	19933863	73827469	61707278	12	30805											
VWA2	340706	broad.mit.edu	37	10	116049184	116049184	+	Silent	SNP	C	C	T			TCGA-HT-A74L-01A-11D-A32B-08	TCGA-HT-A74L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a858a98-7ba6-482e-ae4b-0d55b308b392	a88c4c8f-c82c-433b-acae-b00d5623e077	g.chr10:116049184C>T	ENST00000603594.1	+	12	2379	c.2058C>T	c.(2056-2058)atC>atT	p.I686I	VWA2_ENST00000392982.3_Silent_p.I686I	NM_001272046.1	NP_001258975.1	Q5GFL6	VWA2_HUMAN	von Willebrand factor A domain containing 2	686	VWFA 3.					extracellular region				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26				Epithelial(162;0.036)|all cancers(201;0.0793)		ATTCCCTGATCCACGTGGCAG	0.627													14	28					0	0	1	0	0	T	116049184	C	T	116049184	2	4	330	1	0	0	0	0	0	0	0	1	17299	845	30	2		2	VWA2	10	116049184	Silent	SNP	C	TCGA-HT-A74L-01A-11D-A32B-08	42221715	116049184	19485563	13	30806											
OR5R1	219479	broad.mit.edu	37	11	56185335	56185335	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A74L-01A-11D-A32B-08	TCGA-HT-A74L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a858a98-7ba6-482e-ae4b-0d55b308b392	a88c4c8f-c82c-433b-acae-b00d5623e077	g.chr11:56185335G>A	ENST00000312253.1	-	1	373	c.374C>T	c.(373-375)gCc>gTc	p.A125V		NM_001004744.1	NP_001004744.1	Q8NH85	OR5R1_HUMAN	olfactory receptor, family 5, subfamily R, member 1	125					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(17)|ovary(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(21;0.00448)					ACTACAGATGGCGACATAGCA	0.463													24	32					0	0	1	0	0	A	56185335	G	A	56185335	3	1	330	1	0	0	0	0	1	0	0	0	11227	1203	42	2	602	2	OR5R1	11	56185335	Missense_Mutation	SNP	G	TCGA-HT-A74L-01A-11D-A32B-08		56185335	78821181	14	30807											
NOS1	4842	broad.mit.edu	37	12	117701762	117701762	+	Silent	SNP	C	C	T			TCGA-HT-A74L-01A-11D-A32B-08	TCGA-HT-A74L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a858a98-7ba6-482e-ae4b-0d55b308b392	a88c4c8f-c82c-433b-acae-b00d5623e077	g.chr12:117701762C>T	ENST00000317775.6	-	13	2839	c.2154G>A	c.(2152-2154)acG>acA	p.T718T	NOS1_ENST00000338101.4_Silent_p.T718T|NOS1_ENST00000344089.3_3'UTR	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN	nitric oxide synthase 1 (neuronal)	718					multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	TCCAGACATGCGTGTTCCAGG	0.592													3	56					0	0	1	0	0	T	117701762	C	T	117701762	2	4	330	1	0	0	0	0	0	0	0	1	10588	755	27	1		1	NOS1	12	117701762	Silent	SNP	C	TCGA-HT-A74L-01A-11D-A32B-08		117701762	16150133	15	30808											
USP14	9097	broad.mit.edu	37	18	197675	197675	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-A74L-01A-11D-A32B-08	TCGA-HT-A74L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a858a98-7ba6-482e-ae4b-0d55b308b392	a88c4c8f-c82c-433b-acae-b00d5623e077	g.chr18:197675A>G	ENST00000261601.7	+	8	745	c.654A>G	c.(652-654)atA>atG	p.I218M	USP14_ENST00000383589.2_Missense_Mutation_p.I172M|USP14_ENST00000582707.1_Missense_Mutation_p.I183M|USP14_ENST00000400266.3_Missense_Mutation_p.I207M	NM_005151.3	NP_005142.1	P54578	UBP14_HUMAN	ubiquitin specific peptidase 14 (tRNA-guanine transglycosylase)						regulation of chemotaxis|regulation of proteasomal protein catabolic process|ubiquitin-dependent protein catabolic process	cell surface|cytoplasmic membrane-bounded vesicle|plasma membrane|proteasome complex	cysteine-type endopeptidase activity|endopeptidase inhibitor activity|proteasome binding|tRNA guanylyltransferase activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|skin(2)	11		all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412)				TGGAAGCAATAGAGGATGATT	0.308													3	39					0	0	1	0	0	G	197675	A	G	197675	3	3	330	1	0	0	0	0	1	0	0	0	17105	410	15	3	684	3	USP14	18	197675	Missense_Mutation	SNP	A	TCGA-HT-A74L-01A-11D-A32B-08		197675	77879573	16	30809											
APCDD1	147495	broad.mit.edu	37	18	10487787	10487787	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A74L-01A-11D-A32B-08	TCGA-HT-A74L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a858a98-7ba6-482e-ae4b-0d55b308b392	a88c4c8f-c82c-433b-acae-b00d5623e077	g.chr18:10487787G>A	ENST00000355285.5	+	5	1651	c.1297G>A	c.(1297-1299)Ggg>Agg	p.G433R		NM_153000.4	NP_694545.1	Q8J025	APCD1_HUMAN	adenomatosis polyposis coli down-regulated 1						hair follicle development|negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to plasma membrane	Wnt-protein binding			NS(1)|breast(1)|endometrium(3)|large_intestine(5)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22				READ - Rectum adenocarcinoma(15;0.08)		GGATGCCCGGGGGCGCTATCT	0.597													23	14					0	0	1	0	0	A	10487787	G	A	10487787	3	1	330	1	0	0	0	0	1	0	0	0	761	1232	43	2	1315	2	APCDD1	18	10487787	Missense_Mutation	SNP	G	TCGA-HT-A74L-01A-11D-A32B-08	10290112	10487787	67589461	17	30810											
MUC16	94025	broad.mit.edu	37	19	9089879	9089879	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A74L-01A-11D-A32B-08	TCGA-HT-A74L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a858a98-7ba6-482e-ae4b-0d55b308b392	a88c4c8f-c82c-433b-acae-b00d5623e077	g.chr19:9089879C>T	ENST00000397910.4	-	1	2139	c.1936G>A	c.(1936-1938)Ggt>Agt	p.G646S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	646	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.G646S(2)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ACTGGGACACCGTTCGTGGCC	0.562													32	52					0	0	1	0	0	T	9089879	C	T	9089879	3	4	330	1	0	0	0	0	1	0	0	0	10021	652	23	1	41923	1	MUC16	19	9089879	Missense_Mutation	SNP	C	TCGA-HT-A74L-01A-11D-A32B-08		9089879	50039104	18	30811											
YWHAB	7529	broad.mit.edu	37	20	43532703	43532703	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-A74L-01A-11D-A32B-08	TCGA-HT-A74L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a858a98-7ba6-482e-ae4b-0d55b308b392	a88c4c8f-c82c-433b-acae-b00d5623e077	g.chr20:43532703A>G	ENST00000372839.3	+	4	644	c.370A>G	c.(370-372)Aaa>Gaa	p.K124E	YWHAB_ENST00000479421.1_3'UTR|YWHAB_ENST00000353703.4_Missense_Mutation_p.K124E	NM_003404.3	NP_003395.1	P31946	1433B_HUMAN	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, beta polypeptide	124					activation of MAPKK activity|activation of pro-apoptotic gene products|axon guidance|cytoplasmic sequestering of protein|epidermal growth factor receptor signaling pathway|induction of apoptosis by intracellular signals|insulin receptor signaling pathway|mRNA metabolic process|negative regulation of protein dephosphorylation|nerve growth factor receptor signaling pathway|Ras protein signal transduction	centrosome|cytosol|melanosome|perinuclear region of cytoplasm	histone deacetylase binding|phosphoserine binding|protein domain specific binding			breast(1)|kidney(5)|large_intestine(2)|lung(2)|ovary(1)|urinary_tract(1)	12		Myeloproliferative disorder(115;0.0122)				CTTGAAAATGAAAGGAGATTA	0.328													22	40					0	0	1	0	0	G	43532703	A	G	43532703	3	3	330	1	0	0	0	0	1	0	0	0	17561	247	9	3	376	3	YWHAB	20	43532703	Missense_Mutation	SNP	A	TCGA-HT-A74L-01A-11D-A32B-08		43532703	19492817	19	30812											
PLP1	5354	broad.mit.edu	37	X	103045489	103045489	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A74L-01A-11D-A32B-08	TCGA-HT-A74L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a858a98-7ba6-482e-ae4b-0d55b308b392	a88c4c8f-c82c-433b-acae-b00d5623e077	g.chrX:103045489C>T	ENST00000418604.1	+	8	1077	c.797C>T	c.(796-798)gCc>gTc	p.A266V	PLP1_ENST00000361621.2_Missense_Mutation_p.A231V|PLP1_ENST00000466486.1_3'UTR|PLP1_ENST00000303958.2_Missense_Mutation_p.A266V	NM_001128834.1	NP_001122306.1	P60201	MYPR_HUMAN	proteolipid protein 1	266					cell death|synaptic transmission	integral to membrane				breast(1)|endometrium(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	17						TACAACTTTGCCGTCCTTAAA	0.488													4	231					0	0	1	0	0	T	103045489	C	T	103045489	3	4	330	1	0	0	0	0	1	0	0	0	12152	739	26	2	823	2	PLP1	23	103045489	Missense_Mutation	SNP	C	TCGA-HT-A74L-01A-11D-A32B-08		103045489	52225071	20	30813											
HIVEP3	59269	broad.mit.edu	37	1	42048550	42048550	+	Missense_Mutation	SNP	C	C	A			TCGA-HT-A74O-01A-11D-A32B-08	TCGA-HT-A74O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d4fc290-2f99-4fcc-9698-b8523c6a7435	8f3e1444-e64e-4d48-9726-9314c1f85cd5	g.chr1:42048550C>A	ENST00000372584.1	-	3	2933	c.1919G>T	c.(1918-1920)gGg>gTg	p.G640V	HIVEP3_ENST00000429157.2_Missense_Mutation_p.G640V|HIVEP3_ENST00000372583.1_Missense_Mutation_p.G640V|HIVEP3_ENST00000247584.5_Missense_Mutation_p.G640V	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	640	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)				GTAGATCACCCCTTTTGTTTT	0.473													7	120					0.00307968	0.00326084	1	1	0	A	42048550	C	A	42048550	3	1	331	1	0	0	0	0	1	0	0	0	7229	623	22	5	5325	5	HIVEP3	1	42048550	Missense_Mutation	SNP	C	TCGA-HT-A74O-01A-11D-A32B-08		42048550	207202071	1	30814											
TTC13	79573	broad.mit.edu	37	1	231079620	231079620	+	Missense_Mutation	SNP	G	G	C			TCGA-HT-A74O-01A-11D-A32B-08	TCGA-HT-A74O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d4fc290-2f99-4fcc-9698-b8523c6a7435	8f3e1444-e64e-4d48-9726-9314c1f85cd5	g.chr1:231079620G>C	ENST00000366661.4	-	6	611	c.604C>G	c.(604-606)Ctg>Gtg	p.L202V	TTC13_ENST00000366662.4_Intron|TTC13_ENST00000414259.1_Intron	NM_024525.4	NP_078801.3	Q8NBP0	TTC13_HUMAN	tetratricopeptide repeat domain 13	202							binding			central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	39	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)		COAD - Colon adenocarcinoma(196;0.243)		AGTTCGAACAGAGCAAGCTCA	0.413													7	77					0	0	1	0	0	C	231079620	G	C	231079620	3	2	331	1	0	0	0	0	1	0	0	0	16742	933	33	4	2050	4	TTC13	1	231079620	Missense_Mutation	SNP	G	TCGA-HT-A74O-01A-11D-A32B-08	189031070	231079620	18171001	2	30815											
IDH1	3417	broad.mit.edu	37	2	209113113	209113113	+	Missense_Mutation	SNP	G	G	C	rs121913499		TCGA-HT-A74O-01A-11D-A32B-08	TCGA-HT-A74O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d4fc290-2f99-4fcc-9698-b8523c6a7435	8f3e1444-e64e-4d48-9726-9314c1f85cd5	g.chr2:209113113G>C	ENST00000415913.1	-	4	775	c.394C>G	c.(394-396)Cgt>Ggt	p.R132G	IDH1_ENST00000446179.1_Missense_Mutation_p.R132G|IDH1_ENST00000345146.2_Missense_Mutation_p.R132G	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		TAAGCATGACGACCTATGATG	0.398			Mis		gliobastoma								18	21					0	0	1	0	0	C	209113113	G	C	209113113	3	2	331	1	0	0	0	0	1	0	0	0	7538	1058	37	5	878	5	IDH1	2	209113113	Missense_Mutation	SNP	G	TCGA-HT-A74O-01A-11D-A32B-08		209113113	34086260	3	30816											
CACNA2D2	9254	broad.mit.edu	37	3	50405102	50405102	+	Silent	SNP	G	G	A			TCGA-HT-A74O-01A-11D-A32B-08	TCGA-HT-A74O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d4fc290-2f99-4fcc-9698-b8523c6a7435	8f3e1444-e64e-4d48-9726-9314c1f85cd5	g.chr3:50405102G>A	ENST00000435965.1	-	27	2462	c.2289C>T	c.(2287-2289)gaC>gaT	p.D763D	CACNA2D2_ENST00000479441.1_Silent_p.D763D|CACNA2D2_ENST00000395083.1_Silent_p.D756D|CACNA2D2_ENST00000266039.3_Silent_p.D756D|CACNA2D2_ENST00000360963.3_Silent_p.D687D|XXcos-LUCA11.5_ENST00000606589.1_Intron|XXcos-LUCA11.4_ENST00000607362.1_RNA|XXcos-LUCA11.4_ENST00000607121.1_RNA|XXcos-LUCA11.4_ENST00000606259.1_RNA|XXcos-LUCA11.4_ENST00000606665.1_RNA|CACNA2D2_ENST00000424201.2_Silent_p.D756D|CACNA2D2_ENST00000423994.2_Silent_p.D763D|XXcos-LUCA11.4_ENST00000607088.1_RNA|CACNA2D2_ENST00000429770.1_Silent_p.D756D			Q9NY47	CA2D2_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 2	763					energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			breast(3)|cervix(1)|endometrium(4)|large_intestine(4)|lung(8)|ovary(2)|prostate(4)|skin(4)|urinary_tract(1)	31				BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	Gabapentin(DB00996)	TGATGCCACCGTCTGTGGCAG	0.642													13	11					0	0	1	0	0	A	50405102	G	A	50405102	2	1	331	1	0	0	0	0	0	0	0	1	2567	1136	40	1		1	CACNA2D2	3	50405102	Silent	SNP	G	TCGA-HT-A74O-01A-11D-A32B-08		50405102	147617328	4	30817											
C3orf58	205428	broad.mit.edu	37	3	143708448	143708448	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A74O-01A-11D-A32B-08	TCGA-HT-A74O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d4fc290-2f99-4fcc-9698-b8523c6a7435	8f3e1444-e64e-4d48-9726-9314c1f85cd5	g.chr3:143708448G>A	ENST00000315691.3	+	3	1593	c.1058G>A	c.(1057-1059)cGt>cAt	p.R353H	C3orf58_ENST00000441925.2_Missense_Mutation_p.R115H|C3orf58_ENST00000495414.1_Missense_Mutation_p.R144H|C3orf58_ENST00000493396.1_Intron	NM_173552.3	NP_775823.1	Q8NDZ4	CC058_HUMAN	chromosome 3 open reading frame 58	353						COPI vesicle coat|extracellular region				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CTTTGTGCTCGTGCCACTGTG	0.433													5	58					0	0	1	0	0	A	143708448	G	A	143708448	3	1	331	1	0	0	0	0	1	0	0	0	2250	1145	40	1	1102	1	C3orf58	3	143708448	Missense_Mutation	SNP	G	TCGA-HT-A74O-01A-11D-A32B-08	93303346	143708448	54313982	5	30818											
ZDHHC19	131540	broad.mit.edu	37	3	195935376	195935376	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A74O-01A-11D-A32B-08	TCGA-HT-A74O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d4fc290-2f99-4fcc-9698-b8523c6a7435	8f3e1444-e64e-4d48-9726-9314c1f85cd5	g.chr3:195935376C>T	ENST00000296326.3	-	4	543	c.464G>A	c.(463-465)cGc>cAc	p.R155H	ZDHHC19_ENST00000488508.1_5'UTR	NM_001039617.1	NP_001034706.1	Q8WVZ1	ZDH19_HUMAN	zinc finger, DHHC-type containing 19	155						integral to membrane	acyltransferase activity|zinc ion binding			breast(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(7)|ovary(3)	14	all_cancers(143;1.68e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.89e-25)|all cancers(36;1.46e-23)|OV - Ovarian serous cystadenocarcinoma(49;2.1e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0022)		CATGAAGAAGCGGAAGTTGCG	0.597													20	27					0	0	1	0	0	T	195935376	C	T	195935376	3	4	331	1	0	0	0	0	1	0	0	0	17667	768	27	1	481	1	ZDHHC19	3	195935376	Missense_Mutation	SNP	C	TCGA-HT-A74O-01A-11D-A32B-08	52226928	195935376	2087054	6	30819											
GABRG1	2565	broad.mit.edu	37	4	46053576	46053576	+	Silent	SNP	C	C	T	rs143206194	byFrequency	TCGA-HT-A74O-01A-11D-A32B-08	TCGA-HT-A74O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d4fc290-2f99-4fcc-9698-b8523c6a7435	8f3e1444-e64e-4d48-9726-9314c1f85cd5	g.chr4:46053576C>T	ENST00000295452.4	-	8	1163	c.996G>A	c.(994-996)gcG>gcA	p.A332A		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	332					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)		AGAGATCCATCGCAGTCACAT	0.378													3	45					0	0	1	0	0	T	46053576	C	T	46053576	2	4	331	1	0	0	0	0	0	0	0	1	6206	871	31	1		1	GABRG1	4	46053576	Silent	SNP	C	TCGA-HT-A74O-01A-11D-A32B-08		46053576	145100700	7	30820											
CPVL	54504	broad.mit.edu	37	7	29160567	29160567	+	Silent	SNP	T	T	C			TCGA-HT-A74O-01A-11D-A32B-08	TCGA-HT-A74O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d4fc290-2f99-4fcc-9698-b8523c6a7435	8f3e1444-e64e-4d48-9726-9314c1f85cd5	g.chr7:29160567T>C	ENST00000409850.1	-	6	757	c.111A>G	c.(109-111)ggA>ggG	p.G37G	CPVL_ENST00000396276.3_Silent_p.G37G|CPVL_ENST00000488891.2_5'UTR|CPVL_ENST00000265394.5_Silent_p.G37G			Q9H3G5	CPVL_HUMAN	carboxypeptidase, vitellogenic-like	37					proteolysis		protein binding|serine-type carboxypeptidase activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)	28						GTCCTGAGTCTCCCTTAGGTG	0.463													4	68					0	0	1	0	0	C	29160567	T	C	29160567	2	2	331	1	0	0	0	0	0	0	0	1	3858	1538	54	3		3	CPVL	7	29160567	Silent	SNP	T	TCGA-HT-A74O-01A-11D-A32B-08		29160567	129978096	8	30821											
SEMA3C	10512	broad.mit.edu	37	7	80457916	80457916	+	Silent	SNP	A	A	G			TCGA-HT-A74O-01A-11D-A32B-08	TCGA-HT-A74O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d4fc290-2f99-4fcc-9698-b8523c6a7435	8f3e1444-e64e-4d48-9726-9314c1f85cd5	g.chr7:80457916A>G	ENST00000265361.3	-	3	810	c.249T>C	c.(247-249)agT>agC	p.S83S	SEMA3C_ENST00000419255.2_Silent_p.S83S|SEMA3C_ENST00000536800.1_Intron|SEMA3C_ENST00000544525.1_Silent_p.S101S	NM_006379.3	NP_006370.1	Q99985	SEM3C_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C	83	Sema.				immune response|response to drug	membrane	receptor activity			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						AAGCTTCTTGACTTATATTGT	0.313													25	27					0	0	1	0	0	G	80457916	A	G	80457916	2	3	331	1	0	0	0	0	0	0	0	1	14080	272	10	3		3	SEMA3C	7	80457916	Silent	SNP	A	TCGA-HT-A74O-01A-11D-A32B-08	51297349	80457916	78680747	9	30822											
MGAM	8972	broad.mit.edu	37	7	141795497	141795497	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A74O-01A-11D-A32B-08	TCGA-HT-A74O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d4fc290-2f99-4fcc-9698-b8523c6a7435	8f3e1444-e64e-4d48-9726-9314c1f85cd5	g.chr7:141795497C>T	ENST00000475668.2	+	64	7645	c.7591C>T	c.(7591-7593)Cgg>Tgg	p.R2531W	MGAM_ENST00000549489.2_Missense_Mutation_p.R1635W			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1635					polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CACTGTTGTGCGGCCTCTGCT	0.468													5	189					0	0	1	0	0	T	141795497	C	T	141795497	3	4	331	1	0	0	0	0	1	0	0	0	9591	759	27	1	5061	1	MGAM	7	141795497	Missense_Mutation	SNP	C	TCGA-HT-A74O-01A-11D-A32B-08	61337581	141795497	17343166	10	30823											
PREX2	80243	broad.mit.edu	37	8	69009322	69009322	+	Missense_Mutation	SNP	C	C	A			TCGA-HT-A74O-01A-11D-A32B-08	TCGA-HT-A74O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d4fc290-2f99-4fcc-9698-b8523c6a7435	8f3e1444-e64e-4d48-9726-9314c1f85cd5	g.chr8:69009322C>A	ENST00000288368.4	+	22	2716	c.2439C>A	c.(2437-2439)gaC>gaA	p.D813E	PREX2_ENST00000529398.1_3'UTR	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	813					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						TGACAGTGGACAATGTCCACC	0.438													5	59					1.23904e-05	1.39392e-05	1	1	0	A	69009322	C	A	69009322	3	1	331	1	0	0	0	0	1	0	0	0	12529	477	17	5	2525	5	PREX2	8	69009322	Missense_Mutation	SNP	C	TCGA-HT-A74O-01A-11D-A32B-08		69009322	77354700	11	30824											
SPIN1	10927	broad.mit.edu	37	9	91090141	91090141	+	Missense_Mutation	SNP	G	G	C			TCGA-HT-A74O-01A-11D-A32B-08	TCGA-HT-A74O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d4fc290-2f99-4fcc-9698-b8523c6a7435	8f3e1444-e64e-4d48-9726-9314c1f85cd5	g.chr9:91090141G>C	ENST00000375859.3	+	6	1016	c.738G>C	c.(736-738)aaG>aaC	p.K246N	SPIN1_ENST00000469017.2_3'UTR|SPIN1_ENST00000541629.1_Missense_Mutation_p.K246N	NM_006717.2	NP_006708.2	Q9Y657	SPIN1_HUMAN	spindlin 1	246					cell cycle|gamete generation|multicellular organismal development	nucleus	methylated histone residue binding			endometrium(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	4						ATTTCATCAAGTTTGATGATG	0.383													26	36					0	0	1	0	0	C	91090141	G	C	91090141	3	2	331	1	0	0	0	0	1	0	0	0	15108	1020	36	4	756	4	SPIN1	9	91090141	Missense_Mutation	SNP	G	TCGA-HT-A74O-01A-11D-A32B-08		91090141	50123290	12	30825											
HIATL1	84641	broad.mit.edu	37	9	97177508	97177508	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-A74O-01A-11D-A32B-08	TCGA-HT-A74O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d4fc290-2f99-4fcc-9698-b8523c6a7435	8f3e1444-e64e-4d48-9726-9314c1f85cd5	g.chr9:97177508G>T	ENST00000375344.3	+	2	446	c.177G>T	c.(175-177)tgG>tgT	p.W59C	HIATL1_ENST00000428393.2_5'UTR	NM_032558.2	NP_115947.2	Q5SR56	HIAL1_HUMAN	hippocampus abundant transcript-like 1	59					transmembrane transport	integral to membrane|plasma membrane	protein binding|transporter activity			endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)	11		Acute lymphoblastic leukemia(62;0.136)				TCTTTGCGTGGGGCCTGTTGA	0.393													40	93					3.4345e-17	3.98845e-17	1	1	0	T	97177508	G	T	97177508	3	4	331	1	0	0	0	0	1	0	0	0	7139	1241	43	5	183	5	HIATL1	9	97177508	Missense_Mutation	SNP	G	TCGA-HT-A74O-01A-11D-A32B-08	6087367	97177508	44035923	13	30826											
OR8H3	390152	broad.mit.edu	37	11	55889935	55889935	+	Missense_Mutation	SNP	T	T	A			TCGA-HT-A74O-01A-11D-A32B-08	TCGA-HT-A74O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d4fc290-2f99-4fcc-9698-b8523c6a7435	8f3e1444-e64e-4d48-9726-9314c1f85cd5	g.chr11:55889935T>A	ENST00000313472.3	+	1	87	c.87T>A	c.(85-87)ttT>ttA	p.F29L		NM_001005201.1	NP_001005201.1	Q8N146	OR8H3_HUMAN	olfactory receptor, family 8, subfamily H, member 3	29					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42	Esophageal squamous(21;0.00693)					TGGCTCTGTTTATGCTATTTC	0.453													61	110					0	0	1	0	0	A	55889935	T	A	55889935	3	1	331	1	0	0	0	0	1	0	0	0	11286	1751	61	5	89	5	OR8H3	11	55889935	Missense_Mutation	SNP	T	TCGA-HT-A74O-01A-11D-A32B-08		55889935	79116581	14	30827											
VWA5A	4013	broad.mit.edu	37	11	123988900	123988900	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A74O-01A-11D-A32B-08	TCGA-HT-A74O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d4fc290-2f99-4fcc-9698-b8523c6a7435	8f3e1444-e64e-4d48-9726-9314c1f85cd5	g.chr11:123988900G>A	ENST00000456829.2	+	5	502	c.251G>A	c.(250-252)cGc>cAc	p.R84H	VWA5A_ENST00000361352.5_Missense_Mutation_p.R84H|VWA5A_ENST00000392744.4_Missense_Mutation_p.R100H|VWA5A_ENST00000449321.1_Missense_Mutation_p.R84H|VWA5A_ENST00000392748.1_Missense_Mutation_p.R84H|VWA5A_ENST00000360334.4_Missense_Mutation_p.R84H	NM_001130142.1	NP_001123614.1	O00534	VMA5A_HUMAN	von Willebrand factor A domain containing 5A	84	VIT.									autonomic_ganglia(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						TCTCAGGCCCGCACCAACTAT	0.552													3	47					0	0	1	0	0	A	123988900	G	A	123988900	3	1	331	1	0	0	0	0	1	0	0	0	17302	1087	38	1	261	1	VWA5A	11	123988900	Missense_Mutation	SNP	G	TCGA-HT-A74O-01A-11D-A32B-08	68098965	123988900	11017616	15	30828											
LRTM2	654429	broad.mit.edu	37	12	1940299	1940299	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A74O-01A-11D-A32B-08	TCGA-HT-A74O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d4fc290-2f99-4fcc-9698-b8523c6a7435	8f3e1444-e64e-4d48-9726-9314c1f85cd5	g.chr12:1940299C>T	ENST00000543818.1	+	4	1108	c.266C>T	c.(265-267)gCc>gTc	p.A89V	CACNA2D4_ENST00000585708.1_Intron|CACNA2D4_ENST00000588077.1_Intron|LRTM2_ENST00000535041.1_Missense_Mutation_p.A89V|LRTM2_ENST00000543730.1_Intron|CACNA2D4_ENST00000585732.1_Intron|CACNA2D4_ENST00000382722.5_Intron|LRTM2_ENST00000299194.1_Missense_Mutation_p.A89V|CACNA2D4_ENST00000586184.1_Intron|CACNA2D4_ENST00000587995.1_Intron	NM_001039029.2|NM_001163925.1|NM_001163926.1	NP_001034118.1|NP_001157397.1|NP_001157398.1	Q8N967	LRTM2_HUMAN	leucine-rich repeats and transmembrane domains 2	89						integral to membrane				NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	20	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.000834)			TGGGCTTTCGCCAACCTCTCC	0.622													4	110					0	0	1	0	0	T	1940299	C	T	1940299	3	4	331	1	0	0	0	0	1	0	0	0	9090	739	26	2	272	2	LRTM2	12	1940299	Missense_Mutation	SNP	C	TCGA-HT-A74O-01A-11D-A32B-08		1940299	131911596	16	30829											
GLIPR1L1	256710	broad.mit.edu	37	12	75763881	75763881	+	Missense_Mutation	SNP	G	G	C			TCGA-HT-A74O-01A-11D-A32B-08	TCGA-HT-A74O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d4fc290-2f99-4fcc-9698-b8523c6a7435	8f3e1444-e64e-4d48-9726-9314c1f85cd5	g.chr12:75763881G>C	ENST00000312442.2	+	5	673	c.627G>C	c.(625-627)aaG>aaC	p.K209N	GLIPR1L1_ENST00000378695.4_Missense_Mutation_p.K218N|CAPS2_ENST00000442339.2_Intron|GLIPR1L1_ENST00000548623.1_3'UTR	NM_152779.2	NP_689992.1	Q6UWM5	GPRL1_HUMAN	GLI pathogenesis-related 1 like 1	218						extracellular region				endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)	10						CATTTCTGAAGCCAACGGGGA	0.318													18	33					0	0	1	0	0	C	75763881	G	C	75763881	3	2	331	1	0	0	0	0	1	0	0	0	6484	962	34	4	645	4	GLIPR1L1	12	75763881	Missense_Mutation	SNP	G	TCGA-HT-A74O-01A-11D-A32B-08	73823582	75763881	58088014	17	30830											
KIAA0895L	653319	broad.mit.edu	37	16	67210813	67210813	+	Silent	SNP	G	G	A			TCGA-HT-A74O-01A-11D-A32B-08	TCGA-HT-A74O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d4fc290-2f99-4fcc-9698-b8523c6a7435	8f3e1444-e64e-4d48-9726-9314c1f85cd5	g.chr16:67210813G>A	ENST00000290881.7	-	8	2243	c.1317C>T	c.(1315-1317)caC>caT	p.H439H	KIAA0895L_ENST00000563902.1_Silent_p.H439H|KIAA0895L_ENST00000561621.1_3'UTR|KIAA0895L_ENST00000563831.2_5'UTR			Q68EN5	K895L_HUMAN	KIAA0895-like	439										breast(2)|endometrium(5)|kidney(2)|large_intestine(3)|lung(2)|prostate(2)|skin(1)	17						CCTGCATGAAGTGGGGCACCC	0.632													8	96					0	0	1	0	0	A	67210813	G	A	67210813	2	1	331	1	0	0	0	0	0	0	0	1	8240	1020	36	2		2	KIAA0895L	16	67210813	Silent	SNP	G	TCGA-HT-A74O-01A-11D-A32B-08		67210813	23143940	18	30831											
TP53	7157	broad.mit.edu	37	17	7578547	7578549	+	In_Frame_Del	DEL	GGG	GGG	-			TCGA-HT-A74O-01A-11D-A32B-08	TCGA-HT-A74O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d4fc290-2f99-4fcc-9698-b8523c6a7435	8f3e1444-e64e-4d48-9726-9314c1f85cd5	g.chr17:7578547_7578549delGGG	ENST00000420246.2	-	5	513_515	c.381_383delCCC	c.(379-384)tcccct>tct	p.P128del	TP53_ENST00000445888.2_In_Frame_Del_p.P128del|TP53_ENST00000359597.4_In_Frame_Del_p.P128del|TP53_ENST00000269305.4_In_Frame_Del_p.P128del|TP53_ENST00000413465.2_In_Frame_Del_p.P128del|TP53_ENST00000455263.2_In_Frame_Del_p.P128del	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	128	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		P -> A (in sporadic cancers; somatic mutation).|P -> L (in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> 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.0?(8)|p.P128S(7)|p.Y126_K132delYSPALNK(6)|p.Y126_N131delYSPALN(3)|p.P128L(3)|p.P128fs*42(3)|p.S127F(2)|p.V73fs*9(1)|p.S127fs*36(1)|p.P128fs*18(1)|p.P128del(1)|p.Y126fs*11(1)|p.S127S(1)|p.S127_Q136del10(1)|p.P13fs*18(1)|p.P128A(1)|p.?(1)|p.S127fs*42(1)|p.Y126fs*18(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)		GTTGAGGGCAGGGGAGTACTGTA	0.557		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)			19	11	---	---	---	---						-	7578549	GGG	-	7578547	7	5	331	1	0	1	0	1	0	0	0	0	16442	1000	35	0	915	0	TP53	17	7578547	In_Frame_Del	DEL	GGG	TCGA-HT-A74O-01A-11D-A32B-08		7578547	73616663	19	30832											
LLGL2	3993	broad.mit.edu	37	17	73567853	73567853	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A74O-01A-11D-A32B-08	TCGA-HT-A74O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d4fc290-2f99-4fcc-9698-b8523c6a7435	8f3e1444-e64e-4d48-9726-9314c1f85cd5	g.chr17:73567853G>A	ENST00000392550.3	+	18	2399	c.2282G>A	c.(2281-2283)cGg>cAg	p.R761Q	LLGL2_ENST00000167462.5_Missense_Mutation_p.R761Q|LLGL2_ENST00000577200.1_Missense_Mutation_p.R761Q	NM_001031803.1	NP_001026973.1	Q6P1M3	L2GL2_HUMAN	lethal giant larvae homolog 2 (Drosophila)	761					cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity	cytoplasm|intracellular membrane-bounded organelle	PDZ domain binding			NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)			GAGCCTGTGCGGGCAGAGCAG	0.697													9	17					0	0	1	0	0	A	73567853	G	A	73567853	3	1	331	1	0	0	0	0	1	0	0	0	8875	1116	39	1	2383	1	LLGL2	17	73567853	Missense_Mutation	SNP	G	TCGA-HT-A74O-01A-11D-A32B-08	65989306	73567853	7627357	20	30833											
PTBP1	5725	broad.mit.edu	37	19	804864	804864	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-A74O-01A-11D-A32B-08	TCGA-HT-A74O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d4fc290-2f99-4fcc-9698-b8523c6a7435	8f3e1444-e64e-4d48-9726-9314c1f85cd5	g.chr19:804864C>G	ENST00000356948.6	+	7	1065	c.642C>G	c.(640-642)atC>atG	p.I214M	PTBP1_ENST00000349038.4_Missense_Mutation_p.I214M|PTBP1_ENST00000350092.4_Intron|PTBP1_ENST00000394601.4_Missense_Mutation_p.I214M	NM_002819.4	NP_002810.1	P26599	PTBP1_HUMAN	polypyrimidine tract binding protein 1	214	RRM 2.				negative regulation of muscle cell differentiation|nuclear mRNA splicing, via spliceosome|regulation of alternative nuclear mRNA splicing, via spliceosome	heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	mRNA binding|nucleotide binding|poly-pyrimidine tract binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(4)	19		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)		TGAAGATCATCACCTTCACCA	0.652													7	82					0	0	1	0	0	G	804864	C	G	804864	3	3	331	1	0	0	0	0	1	0	0	0	12774	816	29	5	668	5	PTBP1	19	804864	Missense_Mutation	SNP	C	TCGA-HT-A74O-01A-11D-A32B-08		804864	58324119	21	30834											
C3	718	broad.mit.edu	37	19	6702552	6702552	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A74O-01A-11D-A32B-08	TCGA-HT-A74O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d4fc290-2f99-4fcc-9698-b8523c6a7435	8f3e1444-e64e-4d48-9726-9314c1f85cd5	g.chr19:6702552C>T	ENST00000245907.6	-	18	2376	c.2284G>A	c.(2284-2286)Gtt>Att	p.V762I		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	762					complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		CTTCGGGAAACGATGTTCTCT	0.532													4	84					0	0	1	0	0	T	6702552	C	T	6702552	3	4	331	1	0	0	0	0	1	0	0	0	2218	536	19	1	2803	1	C3	19	6702552	Missense_Mutation	SNP	C	TCGA-HT-A74O-01A-11D-A32B-08	5897688	6702552	52426431	22	30835											
C3	718	broad.mit.edu	37	19	6718337	6718337	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-A74O-01A-11D-A32B-08	TCGA-HT-A74O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d4fc290-2f99-4fcc-9698-b8523c6a7435	8f3e1444-e64e-4d48-9726-9314c1f85cd5	g.chr19:6718337C>G	ENST00000245907.6	-	3	446	c.354G>C	c.(352-354)gaG>gaC	p.E118D		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	118					complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		GCACCACCTTCTCCACCACTT	0.612													3	53					0	0	1	0	0	G	6718337	C	G	6718337	3	3	331	1	0	0	0	0	1	0	0	0	2218	912	32	4	4793	4	C3	19	6718337	Missense_Mutation	SNP	C	TCGA-HT-A74O-01A-11D-A32B-08	15785	6718337	52410646	23	30836											
MUC16	94025	broad.mit.edu	37	19	9057506	9057506	+	Missense_Mutation	SNP	C	C	A			TCGA-HT-A74O-01A-11D-A32B-08	TCGA-HT-A74O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d4fc290-2f99-4fcc-9698-b8523c6a7435	8f3e1444-e64e-4d48-9726-9314c1f85cd5	g.chr19:9057506C>A	ENST00000397910.4	-	3	30143	c.29940G>T	c.(29938-29940)ttG>ttT	p.L9980F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9982	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGGTCCTTGCCAAGGGGGCTG	0.463													10	165					0.000673444	0.000734666	1	1	0	A	9057506	C	A	9057506	3	1	331	1	0	0	0	0	1	0	0	0	10021	593	21	5	13911	5	MUC16	19	9057506	Missense_Mutation	SNP	C	TCGA-HT-A74O-01A-11D-A32B-08	2339169	9057506	50071477	24	30837											
ZNF536	9745	broad.mit.edu	37	19	30935438	30935438	+	Silent	SNP	C	C	T			TCGA-HT-A74O-01A-11D-A32B-08	TCGA-HT-A74O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d4fc290-2f99-4fcc-9698-b8523c6a7435	8f3e1444-e64e-4d48-9726-9314c1f85cd5	g.chr19:30935438C>T	ENST00000355537.3	+	2	1116	c.969C>T	c.(967-969)caC>caT	p.H323H		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	323					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					AGAAGGCACACATCACGGCCG	0.657													6	169					0	0	1	0	0	T	30935438	C	T	30935438	2	4	331	1	0	0	0	0	0	0	0	1	18031	477	17	2		2	ZNF536	19	30935438	Silent	SNP	C	TCGA-HT-A74O-01A-11D-A32B-08	21877932	30935438	28193545	25	30838											
PHF20	51230	broad.mit.edu	37	20	34451082	34451082	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HT-A74O-01A-11D-A32B-08	TCGA-HT-A74O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d4fc290-2f99-4fcc-9698-b8523c6a7435	8f3e1444-e64e-4d48-9726-9314c1f85cd5	g.chr20:34451082C>T	ENST00000374012.3	+	6	697	c.568C>T	c.(568-570)Cga>Tga	p.R190*	PHF20_ENST00000439301.1_Nonsense_Mutation_p.R190*|PHF20_ENST00000481202.1_3'UTR			Q9BVI0	PHF20_HUMAN	PHD finger protein 20	190	Lys-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	MLL1 complex	DNA binding|zinc ion binding			breast(5)|endometrium(1)|kidney(7)|large_intestine(6)|lung(11)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(12;0.00631)|all_lung(11;0.0145)					GACAGAAAAGCGACCCAAGCA	0.383													14	73					0	0	1	0	0	T	34451082	C	T	34451082	4	4	331	1	0	0	0	0	0	1	0	0	11879	760	27	1	586	1	PHF20	20	34451082	Nonsense_Mutation	SNP	C	TCGA-HT-A74O-01A-11D-A32B-08		34451082	28574438	26	30839											
BAGE2	85319	broad.mit.edu	37	21	11098732	11098732	+	RNA	SNP	C	C	T	rs73891536		TCGA-HT-A74O-01A-11D-A32B-08	TCGA-HT-A74O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d4fc290-2f99-4fcc-9698-b8523c6a7435	8f3e1444-e64e-4d48-9726-9314c1f85cd5	g.chr21:11098732C>T	ENST00000470054.1	-	0	193									B melanoma antigen family, member 2															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)		ctgctccggccgccatcttac	0.632													6	183					0	0	1	0	0	T	11098732	C	T	11098732	1	4	331	0	1	0	0	0	0	0	0	0	1290	639	23	1		1	BAGE2	21	11098732	RNA	SNP	C	TCGA-HT-A74O-01A-11D-A32B-08		11098732	37031163	27	30840											
ATRX	546	broad.mit.edu	37	X	76888722	76888725	+	Frame_Shift_Del	DEL	TTTC	TTTC	-			TCGA-HT-A74O-01A-11D-A32B-08	TCGA-HT-A74O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d4fc290-2f99-4fcc-9698-b8523c6a7435	8f3e1444-e64e-4d48-9726-9314c1f85cd5	g.chrX:76888722_76888725delTTTC	ENST00000373344.5	-	19	5318_5321	c.5104_5107delGAAA	c.(5104-5109)gaaatafs	p.EI1702fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.EI1664fs	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1702	Helicase ATP-binding.				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)	TTGTTAAATATTTCTTTAAGTTTC	0.338			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						91	31	---	---	---	---						-	76888725	TTTC	-	76888722	7	5	331	1	0	1	0	1	0	0	0	0	1206	1493	52	0	2439	0	ATRX	23	76888722	Frame_Shift_Del	DEL	TTTC	TCGA-HT-A74O-01A-11D-A32B-08		76888722	78381838	28	30841											
SKI	6497	broad.mit.edu	37	1	2161050	2161050	+	Missense_Mutation	SNP	G	G	A			TCGA-HW-7486-01A-11D-2024-08	TCGA-HW-7486-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67f88cd9-ab77-4227-a8d7-5512246f9772	41e3896b-9b23-4a4d-b3b1-61c60c2638b0	g.chr1:2161050G>A	ENST00000378536.4	+	1	917	c.845G>A	c.(844-846)cGg>cAg	p.R282Q		NM_003036.3	NP_003027.1	P12755	SKI_HUMAN	v-ski avian sarcoma viral oncogene homolog	282					anterior/posterior axis specification|BMP signaling pathway|bone morphogenesis|cell motility|cell proliferation|embryonic limb morphogenesis|face morphogenesis|lens morphogenesis in camera-type eye|myelination in peripheral nervous system|myotube differentiation|negative regulation of activin receptor signaling pathway|negative regulation of BMP signaling pathway|negative regulation of fibroblast proliferation|negative regulation of osteoblast differentiation|negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|neural tube closure|nose morphogenesis|olfactory bulb development|palate development|positive regulation of DNA binding|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|protein homotrimerization|regulation of apoptosis|retina development in camera-type eye|skeletal muscle fiber development|SMAD protein signal transduction|somatic stem cell maintenance|transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|PML body|transcription factor complex|transcriptional repressor complex	histone deacetylase inhibitor activity|nucleotide binding|protein domain specific binding|protein kinase binding|repressing transcription factor binding|SMAD binding|transcription corepressor activity|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(1)|kidney(2)|lung(5)|prostate(1)|stomach(1)	10	all_cancers(77;0.000139)|all_epithelial(69;4.45e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)			Epithelial(90;2.14e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.72e-29)|GBM - Glioblastoma multiforme(42;2.45e-08)|Colorectal(212;5.33e-05)|COAD - Colon adenocarcinoma(227;0.000228)|Kidney(185;0.00268)|BRCA - Breast invasive adenocarcinoma(365;0.00471)|STAD - Stomach adenocarcinoma(132;0.0147)|KIRC - Kidney renal clear cell carcinoma(229;0.0385)|Lung(427;0.207)		GCCAACTGGCGGGCCTACATC	0.642													5	12					0	0	0.00308	0	0	A	2161050	G	A	2161050	3	1	332	1	0	0	0	0	1	0	0	0	14412	1116	39	1	847	1	SKI	1	2161050	Missense_Mutation	SNP	G	TCGA-HW-7486-01A-11D-2024-08		2161050	247089571	1	30842											
C1orf168	199920	broad.mit.edu	37	1	57185712	57185712	+	Silent	SNP	A	A	G			TCGA-HW-7486-01A-11D-2024-08	TCGA-HW-7486-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67f88cd9-ab77-4227-a8d7-5512246f9772	41e3896b-9b23-4a4d-b3b1-61c60c2638b0	g.chr1:57185712A>G	ENST00000343433.6	-	19	2228	c.2148T>C	c.(2146-2148)atT>atC	p.I716I		NM_001004303.4	NP_001004303.3	Q5VWT5	CA168_HUMAN	chromosome 1 open reading frame 168	716										NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2)	46						CTAGATGTTCAATGAGCACAT	0.259													8	27					0	0	0.004482	0	0	G	57185712	A	G	57185712	2	3	332	1	0	0	0	0	0	0	0	1	2025	126	5	3		3	C1orf168	1	57185712	Silent	SNP	A	TCGA-HW-7486-01A-11D-2024-08	55024662	57185712	192064909	2	30843											
SIX2	10736	broad.mit.edu	37	2	45236135	45236135	+	Missense_Mutation	SNP	C	C	T			TCGA-HW-7486-01A-11D-2024-08	TCGA-HW-7486-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67f88cd9-ab77-4227-a8d7-5512246f9772	41e3896b-9b23-4a4d-b3b1-61c60c2638b0	g.chr2:45236135C>T	ENST00000303077.6	-	1	434	c.115G>A	c.(115-117)Gcc>Acc	p.A39T		NM_016932.4	NP_058628.3	Q9NPC8	SIX2_HUMAN	SIX homeobox 2	39						nucleus	sequence-specific DNA binding transcription factor activity			endometrium(6)|large_intestine(3)|lung(8)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	22		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				TGCTCGCAGGCGGGCAGCGAC	0.647													3	22					0	0	0.009096	0	0	T	45236135	C	T	45236135	3	4	332	1	0	0	0	0	1	0	0	0	14402	768	27	1	768	1	SIX2	2	45236135	Missense_Mutation	SNP	C	TCGA-HW-7486-01A-11D-2024-08		45236135	197963238	3	30844											
TTN	7273	broad.mit.edu	37	2	179611497	179611497	+	Silent	SNP	T	T	C			TCGA-HW-7486-01A-11D-2024-08	TCGA-HW-7486-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67f88cd9-ab77-4227-a8d7-5512246f9772	41e3896b-9b23-4a4d-b3b1-61c60c2638b0	g.chr2:179611497T>C	ENST00000360870.5	-	46	15852	c.15630A>G	c.(15628-15630)ccA>ccG	p.P5210P	TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000589042.1_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Intron	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	8729	Ig-like 32.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CACCAGGAACTGGAAGACCTT	0.368													33	85					0	0	0.010818	0	0	C	179611497	T	C	179611497	2	2	332	1	0	0	0	0	0	0	0	1	16797	1567	55	3		3	TTN	2	179611497	Silent	SNP	T	TCGA-HW-7486-01A-11D-2024-08	134375362	179611497	63587876	4	30845											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-HW-7486-01A-11D-2024-08	TCGA-HW-7486-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67f88cd9-ab77-4227-a8d7-5512246f9772	41e3896b-9b23-4a4d-b3b1-61c60c2638b0	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	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								10	51					0	0	0.006214	0	0	T	209113112	C	T	209113112	3	4	332	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HW-7486-01A-11D-2024-08	29501615	209113112	34086261	5	30846											
XRCC5	7520	broad.mit.edu	37	2	216983868	216983868	+	Silent	SNP	T	T	C			TCGA-HW-7486-01A-11D-2024-08	TCGA-HW-7486-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67f88cd9-ab77-4227-a8d7-5512246f9772	41e3896b-9b23-4a4d-b3b1-61c60c2638b0	g.chr2:216983868T>C	ENST00000392133.3	+	7	932	c.471T>C	c.(469-471)tgT>tgC	p.C157C	XRCC5_ENST00000392132.2_Silent_p.C157C			P13010	XRCC5_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining)	157	Leucine-zipper.				double-strand break repair via nonhomologous end joining|initiation of viral infection|negative regulation of transcription, DNA-dependent|provirus integration|telomere maintenance|transcription, DNA-dependent	Ku70:Ku80 complex|nonhomologous end joining complex|nuclear telomere cap complex|nucleoplasm	ATP binding|ATP-dependent DNA helicase activity|double-stranded DNA binding|protein C-terminus binding|telomeric DNA binding|transcription regulatory region DNA binding			endometrium(1)|kidney(3)|large_intestine(8)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		Renal(323;0.0328)		Epithelial(149;9.78e-06)|all cancers(144;0.000632)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.0117)		TGAAGAAATGTGACATCTCCC	0.368								Non-homologous end-joining					3	31					0	0	0.004672	0	0	C	216983868	T	C	216983868	2	2	332	1	0	0	0	0	0	0	0	1	17516	1702	59	3		3	XRCC5	2	216983868	Silent	SNP	T	TCGA-HW-7486-01A-11D-2024-08	7870756	216983868	26215505	6	30847											
GSK3B	2932	broad.mit.edu	37	3	119720905	119720905	+	Silent	SNP	G	G	A			TCGA-HW-7486-01A-11D-2024-08	TCGA-HW-7486-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67f88cd9-ab77-4227-a8d7-5512246f9772	41e3896b-9b23-4a4d-b3b1-61c60c2638b0	g.chr3:119720905G>A	ENST00000264235.8	-	2	1252	c.270C>T	c.(268-270)gaC>gaT	p.D90D	GSK3B_ENST00000316626.5_Silent_p.D90D	NM_001146156.1|NM_002093.3	NP_001139628.1|NP_002084.2	P49841	GSK3B_HUMAN	glycogen synthase kinase 3 beta	90	Protein kinase.				axon guidance|epithelial to mesenchymal transition|ER overload response|glycogen metabolic process|hippocampus development|negative regulation of apoptosis|negative regulation of protein binding|negative regulation of protein complex assembly|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|positive regulation of cell-matrix adhesion|positive regulation of protein complex assembly|positive regulation of protein export from nucleus|positive regulation of Rac GTPase activity|regulation of microtubule-based process|superior temporal gyrus development	Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|nucleus|plasma membrane	ATP binding|beta-catenin binding|NF-kappaB binding|p53 binding|protein kinase A catalytic subunit binding|protein serine/threonine kinase activity|RNA polymerase II transcription factor binding|tau-protein kinase activity|ubiquitin protein ligase binding			endometrium(1)|large_intestine(8)|lung(7)|prostate(2)	18				GBM - Glioblastoma multiforme(114;0.24)	Lithium(DB01356)	TAAATCTCTTGTCCTGCAATA	0.338													20	90					0	0	0.008871	0	0	A	119720905	G	A	119720905	2	1	332	1	0	0	0	0	0	0	0	1	6865	1368	48	2		2	GSK3B	3	119720905	Silent	SNP	G	TCGA-HW-7486-01A-11D-2024-08		119720905	78301525	7	30848											
CASR	846	broad.mit.edu	37	3	122003579	122003579	+	Silent	SNP	G	G	A			TCGA-HW-7486-01A-11D-2024-08	TCGA-HW-7486-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67f88cd9-ab77-4227-a8d7-5512246f9772	41e3896b-9b23-4a4d-b3b1-61c60c2638b0	g.chr3:122003579G>A	ENST00000498619.1	+	7	3246	c.2808G>A	c.(2806-2808)caG>caA	p.Q936Q	CASR_ENST00000296154.5_Silent_p.Q926Q|CASR_ENST00000490131.1_Silent_p.Q926Q	NM_001178065.1	NP_001171536	P41180	CASR_HUMAN	calcium-sensing receptor	926					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	CATTCCCACAGCCCGAGAGGC	0.647													8	37					0	0	0.00308	0	0	A	122003579	G	A	122003579	2	1	332	1	0	0	0	0	0	0	0	1	2700	962	34	2		2	CASR	3	122003579	Silent	SNP	G	TCGA-HW-7486-01A-11D-2024-08	2282674	122003579	76018851	8	30849											
TLR1	7096	broad.mit.edu	37	4	38799739	38799739	+	Silent	SNP	C	C	T	rs146940675		TCGA-HW-7486-01A-11D-2024-08	TCGA-HW-7486-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67f88cd9-ab77-4227-a8d7-5512246f9772	41e3896b-9b23-4a4d-b3b1-61c60c2638b0	g.chr4:38799739C>T	ENST00000308979.2	-	4	987	c.714G>A	c.(712-714)gcG>gcA	p.A238A	TLR1_ENST00000502213.2_Silent_p.A238A	NM_003263.3	NP_003254.2	Q15399	TLR1_HUMAN	toll-like receptor 1	238					cellular response to triacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|inflammatory response|innate immune response|macrophage activation|positive regulation of interleukin-6 biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	integral to plasma membrane|phagocytic vesicle membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex	protein heterodimerization activity|transmembrane receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(2)	28						TTTGAAGTTTCGCCAGAATAC	0.343													4	47					0	0	0.009096	0	0	T	38799739	C	T	38799739	2	4	332	1	0	0	0	0	0	0	0	1	16009	871	31	1		1	TLR1	4	38799739	Silent	SNP	C	TCGA-HW-7486-01A-11D-2024-08		38799739	152354537	9	30850											
RASA1	5921	broad.mit.edu	37	5	86675592	86675592	+	Missense_Mutation	SNP	C	C	A			TCGA-HW-7486-01A-11D-2024-08	TCGA-HW-7486-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67f88cd9-ab77-4227-a8d7-5512246f9772	41e3896b-9b23-4a4d-b3b1-61c60c2638b0	g.chr5:86675592C>A	ENST00000456692.2	+	19	2112	c.1997C>A	c.(1996-1998)aCt>aAt	p.T666N	RASA1_ENST00000512763.1_Missense_Mutation_p.T676N|RASA1_ENST00000274376.6_Missense_Mutation_p.T843N|RASA1_ENST00000506290.1_Missense_Mutation_p.T677N	NM_022650.2	NP_072179.1	P20936	RASA1_HUMAN	RAS p21 protein activator (GTPase activating protein) 1	843	C2.				cytokinesis|embryo development|intracellular signal transduction|negative regulation of cell-matrix adhesion|negative regulation of neuron apoptosis|negative regulation of Ras protein signal transduction|positive regulation of anti-apoptosis|regulation of actin filament polymerization|regulation of cell shape|regulation of RNA metabolic process|vasculogenesis	cytosol|intrinsic to internal side of plasma membrane	glycoprotein binding|GTPase binding|potassium channel inhibitor activity|Ras GTPase activator activity|receptor binding			NS(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(12)|lung(13)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	48		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)		GATGTGAACACTAATTTAACA	0.313													4	64					0.00024832	0.000264875	0.009096	1	0	A	86675592	C	A	86675592	3	1	332	1	0	0	0	0	1	0	0	0	13112	565	20	4	2614	4	RASA1	5	86675592	Missense_Mutation	SNP	C	TCGA-HW-7486-01A-11D-2024-08		86675592	94239668	10	30851											
PCDHGC5	56097	broad.mit.edu	37	5	140869610	140869610	+	Missense_Mutation	SNP	A	A	G			TCGA-HW-7486-01A-11D-2024-08	TCGA-HW-7486-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67f88cd9-ab77-4227-a8d7-5512246f9772	41e3896b-9b23-4a4d-b3b1-61c60c2638b0	g.chr5:140869610A>G	ENST00000252087.1	+	1	803	c.803A>G	c.(802-804)gAt>gGt	p.D268G	PCDHGB4_ENST00000519479.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGC4_ENST00000306593.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron	NM_018929.2|NM_032403.2|NM_032407.1	NP_061752.1|NP_115779.1|NP_115783.1	Q9Y5F6	PCDGM_HUMAN		268	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)			AATGCCACTGATCCAGACGAG	0.527													41	108					0	0	0.00874	0	0	G	140869610	A	G	140869610	3	3	332	1	0	0	0	0	1	0	0	0	11618	333	12	3	805	3	PCDHGC5	5	140869610	Missense_Mutation	SNP	A	TCGA-HW-7486-01A-11D-2024-08	54194018	140869610	40045650	11	30852											
COL21A1	81578	broad.mit.edu	37	6	56044619	56044619	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HW-7486-01A-11D-2024-08	TCGA-HW-7486-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67f88cd9-ab77-4227-a8d7-5512246f9772	41e3896b-9b23-4a4d-b3b1-61c60c2638b0	g.chr6:56044619G>A	ENST00000244728.5	-	3	794	c.397C>T	c.(397-399)Cga>Tga	p.R133*	COL21A1_ENST00000370819.1_Nonsense_Mutation_p.R133*|COL21A1_ENST00000535941.1_Nonsense_Mutation_p.R133*	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	133	VWFA.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			GTCAGAAATCGTGAGGACTTG	0.448													8	26					0	0	0.00308	0	0	A	56044619	G	A	56044619	4	1	332	1	0	0	0	0	0	1	0	0	3703	1153	40	1	2588	1	COL21A1	6	56044619	Nonsense_Mutation	SNP	G	TCGA-HW-7486-01A-11D-2024-08		56044619	115070448	12	30853											
ALDH8A1	64577	broad.mit.edu	37	6	135239871	135239871	+	Silent	SNP	C	C	T			TCGA-HW-7486-01A-11D-2024-08	TCGA-HW-7486-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67f88cd9-ab77-4227-a8d7-5512246f9772	41e3896b-9b23-4a4d-b3b1-61c60c2638b0	g.chr6:135239871C>T	ENST00000265605.2	-	7	1214	c.1146G>A	c.(1144-1146)aaG>aaA	p.K382K	ALDH8A1_ENST00000367845.2_Silent_p.K328K|ALDH8A1_ENST00000367847.2_Silent_p.K332K	NM_022568.3	NP_072090.1	Q9H2A2	AL8A1_HUMAN	aldehyde dehydrogenase 8 family, member A1	382					retinal metabolic process	cytoplasm	retinal dehydrogenase activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	36	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00401)|GBM - Glioblastoma multiforme(68;0.0058)		AGGATTCATCCTTAATGTCTG	0.498													24	84					0	0	0.003954	0	0	T	135239871	C	T	135239871	2	4	332	1	0	0	0	0	0	0	0	1	502	680	24	2		2	ALDH8A1	6	135239871	Silent	SNP	C	TCGA-HW-7486-01A-11D-2024-08	79195252	135239871	35875196	13	30854											
ENOSF1	55556	broad.mit.edu	37	18	706562	706562	+	Missense_Mutation	SNP	T	T	C			TCGA-HW-7486-01A-11D-2024-08	TCGA-HW-7486-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67f88cd9-ab77-4227-a8d7-5512246f9772	41e3896b-9b23-4a4d-b3b1-61c60c2638b0	g.chr18:706562T>C	ENST00000251101.7	-	2	189	c.101A>G	c.(100-102)tAc>tGc	p.Y34C	ENOSF1_ENST00000383578.3_5'UTR|ENOSF1_ENST00000539164.1_Missense_Mutation_p.Y34C|ENOSF1_ENST00000580982.1_Missense_Mutation_p.Y34C|ENOSF1_ENST00000340116.7_Missense_Mutation_p.Y55C|RP11-806L2.6_ENST00000580007.1_RNA	NM_017512.5	NP_059982.2	Q7L5Y1	ENOF1_HUMAN	enolase superfamily member 1	34					cellular amino acid catabolic process	mitochondrion	isomerase activity|metal ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	10						GGCAGCCGAGTAGTCAGGGTC	0.498													8	61					0	0	0.004007	0	0	C	706562	T	C	706562	3	2	332	1	0	0	0	0	1	0	0	0	5153	1638	57	3	1290	3	ENOSF1	18	706562	Missense_Mutation	SNP	T	TCGA-HW-7486-01A-11D-2024-08		706562	77370686	14	30855											
CDKN2C	1031	broad.mit.edu	37	1	51439758	51439758	+	Missense_Mutation	SNP	A	A	G			TCGA-HW-7487-01A-11D-2024-08	TCGA-HW-7487-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1abb741-4fcd-4161-b057-c7efd619cc99	eadcce99-923f-4b79-8c99-3656d412ea5a	g.chr1:51439758A>G	ENST00000262662.1	+	4	2357	c.323A>G	c.(322-324)cAc>cGc	p.H108R	CDKN2C_ENST00000396148.1_Missense_Mutation_p.H108R|CDKN2C_ENST00000371761.3_Missense_Mutation_p.H108R			P42773	CDN2C_HUMAN	cyclin-dependent kinase inhibitor 2C (p18, inhibits CDK4)	108					cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|regulation of cyclin-dependent protein kinase activity	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|protein kinase binding	p.0?(11)|p.?(1)		central_nervous_system(8)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|thyroid(1)	23				GBM - Glioblastoma multiforme(3;3.61e-13)|all cancers(3;0.00151)		CTGCCCTTGCACTTGGCTGCC	0.552			D		"glioma, MM"								9	9					0	0	0.307466	0	0	G	51439758	A	G	51439758	3	3	333	1	0	0	0	0	1	0	0	0	3187	159	6	3	329	3	CDKN2C	1	51439758	Missense_Mutation	SNP	A	TCGA-HW-7487-01A-11D-2024-08		51439758	197810863	1	30856											
RAVER2	55225	broad.mit.edu	37	1	65268661	65268661	+	Missense_Mutation	SNP	G	G	A			TCGA-HW-7487-01A-11D-2024-08	TCGA-HW-7487-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1abb741-4fcd-4161-b057-c7efd619cc99	eadcce99-923f-4b79-8c99-3656d412ea5a	g.chr1:65268661G>A	ENST00000294428.3	+	6	1186	c.1108G>A	c.(1108-1110)Gtt>Att	p.V370I	RAVER2_ENST00000371072.4_Missense_Mutation_p.V370I|RAVER2_ENST00000430964.2_Missense_Mutation_p.V76I			Q9HCJ3	RAVR2_HUMAN	ribonucleoprotein, PTB-binding 2	370						cytoplasm|nucleus	nucleotide binding|RNA binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	24						tCTCAAAGCCGTTCTTGGAAC	0.299													3	38					0	0	0.115264	0	0	A	65268661	G	A	65268661	3	1	333	1	0	0	0	0	1	0	0	0	13147	1145	40	1	1130	1	RAVER2	1	65268661	Missense_Mutation	SNP	G	TCGA-HW-7487-01A-11D-2024-08	13828903	65268661	183981960	2	30857											
FUBP1	8880	broad.mit.edu	37	1	78426058	78426059	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HW-7487-01A-11D-2024-08	TCGA-HW-7487-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1abb741-4fcd-4161-b057-c7efd619cc99	eadcce99-923f-4b79-8c99-3656d412ea5a	g.chr1:78426058_78426059insT	ENST00000370767.1	-	15	1553_1554	c.1466_1467insA	c.(1465-1467)tatfs	p.Y489fs	FUBP1_ENST00000370768.2_Frame_Shift_Ins_p.Y489fs|FUBP1_ENST00000436586.2_Frame_Shift_Ins_p.Y510fs			Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1	489	Pro-rich.				transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						GTCCAGGATTATAAGGTGCAGG	0.545			"F, N"		oligodendroglioma								13	6	---	---	---	---						T	78426059	-	T	78426058	7	5	333	1	0	1	1	0	0	0	0	0	6127	456	16	0	491	0	FUBP1	1	78426058	Frame_Shift_Ins	INS	-	TCGA-HW-7487-01A-11D-2024-08	13157397	78426058	170824563	3	30858											
TTN	7273	broad.mit.edu	37	2	179433152	179433152	+	Missense_Mutation	SNP	C	C	T			TCGA-HW-7487-01A-11D-2024-08	TCGA-HW-7487-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1abb741-4fcd-4161-b057-c7efd619cc99	eadcce99-923f-4b79-8c99-3656d412ea5a	g.chr2:179433152C>T	ENST00000589042.1	-	326	77931	c.77707G>A	c.(77707-77709)Gtc>Atc	p.V25903I	TTN_ENST00000342992.6_Missense_Mutation_p.V23335I|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V16963I|TTN_ENST00000460472.2_Missense_Mutation_p.V16838I|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V17030I|TTN_ENST00000591111.1_Missense_Mutation_p.V24262I|TTN-AS1_ENST00000590807.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	24262	Fibronectin type-III 88.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCAGCACTGACGTCATCAAAT	0.403													8	40					0	0	0.27861	0	0	T	179433152	C	T	179433152	3	4	333	1	0	0	0	0	1	0	0	0	16797	536	19	1	30420	1	TTN	2	179433152	Missense_Mutation	SNP	C	TCGA-HW-7487-01A-11D-2024-08		179433152	63766221	4	30859											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-HW-7487-01A-11D-2024-08	TCGA-HW-7487-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1abb741-4fcd-4161-b057-c7efd619cc99	eadcce99-923f-4b79-8c99-3656d412ea5a	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								19	63					0	0	0.592651	0	0	T	209113112	C	T	209113112	3	4	333	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HW-7487-01A-11D-2024-08	29679960	209113112	34086261	5	30860											
ITPR1	3708	broad.mit.edu	37	3	4725122	4725122	+	Missense_Mutation	SNP	C	C	T			TCGA-HW-7487-01A-11D-2024-08	TCGA-HW-7487-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1abb741-4fcd-4161-b057-c7efd619cc99	eadcce99-923f-4b79-8c99-3656d412ea5a	g.chr3:4725122C>T	ENST00000302640.8	+	26	3519	c.3169C>T	c.(3169-3171)Cgt>Tgt	p.R1057C	ITPR1_ENST00000423119.2_Missense_Mutation_p.R1063C|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000456211.2_Missense_Mutation_p.R1048C|ITPR1_ENST00000443694.2_Missense_Mutation_p.R1057C|ITPR1_ENST00000357086.4_Missense_Mutation_p.R1063C|ITPR1_ENST00000354582.6_Missense_Mutation_p.R1072C	NM_001168272.1	NP_001161744.1	Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	1072					activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		AACCTTTCTCCGTGTCCTGCT	0.582													63	129					0	0	0.870114	0	0	T	4725122	C	T	4725122	3	4	333	1	0	0	0	0	1	0	0	0	7964	652	23	1	3312	1	ITPR1	3	4725122	Missense_Mutation	SNP	C	TCGA-HW-7487-01A-11D-2024-08		4725122	193297308	6	30861											
MYLK	4638	broad.mit.edu	37	3	123419711	123419711	+	Silent	SNP	G	G	A			TCGA-HW-7487-01A-11D-2024-08	TCGA-HW-7487-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1abb741-4fcd-4161-b057-c7efd619cc99	eadcce99-923f-4b79-8c99-3656d412ea5a	g.chr3:123419711G>A	ENST00000360772.3	-	19	2982	c.2604C>T	c.(2602-2604)gaC>gaT	p.D868D	MYLK_ENST00000360304.3_Silent_p.D868D|MYLK_ENST00000346322.5_Silent_p.D799D|MYLK_ENST00000475616.1_Silent_p.D868D|MYLK_ENST00000359169.1_Silent_p.D868D			Q15746	MYLK_HUMAN	myosin light chain kinase	868	5 X 28 AA approximate tandem repeats.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		CCCCTCGCACGTCCTCGCCGT	0.652													31	74					0	0	0.804634	0	0	A	123419711	G	A	123419711	2	1	333	1	0	0	0	0	0	0	0	1	10104	1136	40	1		1	MYLK	3	123419711	Silent	SNP	G	TCGA-HW-7487-01A-11D-2024-08	118694589	123419711	74602719	7	30862											
MARCH1	55016	broad.mit.edu	37	4	164450155	164450155	+	Silent	SNP	G	G	C			TCGA-HW-7487-01A-11D-2024-08	TCGA-HW-7487-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1abb741-4fcd-4161-b057-c7efd619cc99	eadcce99-923f-4b79-8c99-3656d412ea5a	g.chr4:164450155G>C	ENST00000503008.1	-	8	1591	c.615C>G	c.(613-615)gcC>gcG	p.A205A	MARCH1_ENST00000274056.7_Silent_p.A205A|MARCH1_ENST00000514618.1_Silent_p.A461A|MARCH1_ENST00000339875.5_Silent_p.A188A	NM_001166373.1	NP_001159845.1	Q8TCQ1	MARH1_HUMAN	membrane-associated ring finger (C3HC4) 1, E3 ubiquitin protein ligase	205					antigen processing and presentation of peptide antigen via MHC class II|immune response	cytoplasmic vesicle membrane|early endosome membrane|Golgi apparatus|integral to membrane|late endosome membrane|lysosomal membrane|plasma membrane	MHC protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(3)|lung(20)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	36	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				TGAAGCCAATGGCTACCACAA	0.438													3	45					0	0	0.150653	0	0	C	164450155	G	C	164450155	2	2	333	1	0	0	0	0	0	0	0	1	9348	1335	47	5		5	MARCH1	4	164450155	Silent	SNP	G	TCGA-HW-7487-01A-11D-2024-08		164450155	26704121	8	30863											
TIFAB	497189	broad.mit.edu	37	5	134785348	134785348	+	Silent	SNP	C	C	T			TCGA-HW-7487-01A-11D-2024-08	TCGA-HW-7487-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1abb741-4fcd-4161-b057-c7efd619cc99	eadcce99-923f-4b79-8c99-3656d412ea5a	g.chr5:134785348C>T	ENST00000537858.1	-	2	482	c.282G>A	c.(280-282)ctG>ctA	p.L94L		NM_001099221.1	NP_001092691.1	Q6ZNK6	TIFAB_HUMAN	TRAF-interacting protein with forkhead-associated domain, family member B	94										breast(1)|endometrium(1)|liver(1)|lung(5)	8			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GGACCTGCTCCAGGTACCTCA	0.607													49	108					0	0	0.870114	0	0	T	134785348	C	T	134785348	2	4	333	1	0	0	0	0	0	0	0	1	15955	581	21	2		2	TIFAB	5	134785348	Silent	SNP	C	TCGA-HW-7487-01A-11D-2024-08		134785348	46129912	9	30864											
TRPC7	57113	broad.mit.edu	37	5	135693009	135693009	+	Missense_Mutation	SNP	G	G	A			TCGA-HW-7487-01A-11D-2024-08	TCGA-HW-7487-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1abb741-4fcd-4161-b057-c7efd619cc99	eadcce99-923f-4b79-8c99-3656d412ea5a	g.chr5:135693009G>A	ENST00000513104.1	-	2	349	c.67C>T	c.(67-69)Cgc>Tgc	p.R23C	TRPC7_ENST00000426057.2_Missense_Mutation_p.R23C|TRPC7_ENST00000355180.3_Missense_Mutation_p.R23C	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	23					axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			ATGGCCTGGCGACGGCCCTTC	0.587													37	52					0	0	0.779181	0	0	A	135693009	G	A	135693009	3	1	333	1	0	0	0	0	1	0	0	0	16645	1058	37	1	2565	1	TRPC7	5	135693009	Missense_Mutation	SNP	G	TCGA-HW-7487-01A-11D-2024-08	907661	135693009	45222251	10	30865											
SSPO	23145	broad.mit.edu	37	7	149486800	149486800	+	RNA	SNP	C	C	T			TCGA-HW-7487-01A-11D-2024-08	TCGA-HW-7487-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1abb741-4fcd-4161-b057-c7efd619cc99	eadcce99-923f-4b79-8c99-3656d412ea5a	g.chr7:149486800C>T	ENST00000378016.2	+	0	4574							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GATGAGGGGCCGGGACACTGC	0.682													13	28					0	0	0.457914	0	0	T	149486800	C	T	149486800	1	4	333	0	1	0	0	0	0	0	0	0	15245	652	23	1		1	SSPO	7	149486800	RNA	SNP	C	TCGA-HW-7487-01A-11D-2024-08		149486800	9651863	11	30866											
ADCY8	114	broad.mit.edu	37	8	131922058	131922058	+	Silent	SNP	G	G	A	rs150100724		TCGA-HW-7487-01A-11D-2024-08	TCGA-HW-7487-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1abb741-4fcd-4161-b057-c7efd619cc99	eadcce99-923f-4b79-8c99-3656d412ea5a	g.chr8:131922058G>A	ENST00000286355.5	-	6	3628	c.1536C>T	c.(1534-1536)tcC>tcT	p.S512S	ADCY8_ENST00000377928.3_Silent_p.S512S	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	512					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			GCACCGAGCCGGAGTGGATTC	0.473										HNSCC(32;0.087)			5	113					0	0	0.184627	0	0	A	131922058	G	A	131922058	2	1	333	1	0	0	0	0	0	0	0	1	299	1103	39	1		1	ADCY8	8	131922058	Silent	SNP	G	TCGA-HW-7487-01A-11D-2024-08		131922058	14441964	12	30867											
IDI1	3422	broad.mit.edu	37	10	1089327	1089327	+	Missense_Mutation	SNP	A	A	G			TCGA-HW-7487-01A-11D-2024-08	TCGA-HW-7487-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1abb741-4fcd-4161-b057-c7efd619cc99	eadcce99-923f-4b79-8c99-3656d412ea5a	g.chr10:1089327A>G	ENST00000381344.3	-	3	486	c.320T>C	c.(319-321)tTg>tCg	p.L107S	IDI2-AS1_ENST00000536039.1_RNA|IDI2-AS1_ENST00000437374.1_RNA|IDI2-AS1_ENST00000428780.2_RNA|IDI2-AS1_ENST00000420381.1_RNA|IDI1_ENST00000491735.1_5'UTR	NM_004508.2	NP_004499.2	Q13907	IDI1_HUMAN	isopentenyl-diphosphate delta isomerase 1	50	Nudix hydrolase.				carotenoid biosynthetic process|cholesterol biosynthetic process	cytosol|peroxisome	hydrolase activity|isopentenyl-diphosphate delta-isomerase activity|metal ion binding			large_intestine(3)|lung(2)|prostate(1)	6		all_epithelial(10;0.107)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.221)	Epithelial(11;0.0972)		AGCTCGATGCAATAATCCTGA	0.348													19	27					0	0	0.592651	0	0	G	1089327	A	G	1089327	3	3	333	1	0	0	0	0	1	0	0	0	7543	131	5	3	546	3	IDI1	10	1089327	Missense_Mutation	SNP	A	TCGA-HW-7487-01A-11D-2024-08		1089327	134445420	13	30868											
DAO	1610	broad.mit.edu	37	12	109294236	109294236	+	Silent	SNP	C	C	T			TCGA-HW-7487-01A-11D-2024-08	TCGA-HW-7487-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1abb741-4fcd-4161-b057-c7efd619cc99	eadcce99-923f-4b79-8c99-3656d412ea5a	g.chr12:109294236C>T	ENST00000228476.3	+	11	1173	c.969C>T	c.(967-969)gcC>gcT	p.A323A	DAO_ENST00000551281.1_Silent_p.A257A	NM_001917.4	NP_001908.3	P14920	OXDA_HUMAN	D-amino-acid oxidase	323					glyoxylate metabolic process	peroxisomal matrix	binding|D-amino-acid oxidase activity			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|skin(1)	26						GGGGATGTGCCCTGGAGGCAG	0.572													18	90					0	0	0.539581	0	0	T	109294236	C	T	109294236	2	4	333	1	0	0	0	0	0	0	0	1	4255	610	22	2		2	DAO	12	109294236	Silent	SNP	C	TCGA-HW-7487-01A-11D-2024-08		109294236	24557659	14	30869											
DIAPH3	81624	broad.mit.edu	37	13	60582733	60582734	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HW-7487-01A-11D-2024-08	TCGA-HW-7487-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1abb741-4fcd-4161-b057-c7efd619cc99	eadcce99-923f-4b79-8c99-3656d412ea5a	g.chr13:60582733_60582734insT	ENST00000400324.4	-	9	1178_1179	c.958_959insA	c.(958-960)attfs	p.I320fs	DIAPH3_ENST00000465066.1_5'UTR|DIAPH3_ENST00000400319.1_Frame_Shift_Ins_p.I250fs|DIAPH3_ENST00000400320.1_Frame_Shift_Ins_p.I274fs|DIAPH3_ENST00000377908.2_Frame_Shift_Ins_p.I309fs|DIAPH3_ENST00000267215.4_Frame_Shift_Ins_p.I320fs|DIAPH3_ENST00000400330.1_Frame_Shift_Ins_p.I320fs	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN	diaphanous-related formin 3	320	GBD/FH3.				actin cytoskeleton organization		actin binding|Rho GTPase binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		AAATCTGTCAATTTTTTTTTCT	0.322													7	143	---	---	---	---						T	60582734	-	T	60582733	7	5	333	1	0	1	1	0	0	0	0	0	4548	101	4	0	2722	0	DIAPH3	13	60582733	Frame_Shift_Ins	INS	-	TCGA-HW-7487-01A-11D-2024-08		60582733	54587145	15	30870											
OR4K15	81127	broad.mit.edu	37	14	20444378	20444378	+	Missense_Mutation	SNP	C	C	T			TCGA-HW-7487-01A-11D-2024-08	TCGA-HW-7487-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1abb741-4fcd-4161-b057-c7efd619cc99	eadcce99-923f-4b79-8c99-3656d412ea5a	g.chr14:20444378C>T	ENST00000305051.5	+	1	776	c.701C>T	c.(700-702)tCc>tTc	p.S234F		NM_001005486.1	NP_001005486.1	Q8NH41	OR4KF_HUMAN	olfactory receptor, family 4, subfamily K, member 15	234					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|ovary(1)|prostate(2)|skin(1)|stomach(1)	39	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;3.58e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TCTCTGAGTTCCTTTCTCCTC	0.453													42	97					0	0	0.834066	0	0	T	20444378	C	T	20444378	3	4	333	1	0	0	0	0	1	0	0	0	11118	855	30	2	703	2	OR4K15	14	20444378	Missense_Mutation	SNP	C	TCGA-HW-7487-01A-11D-2024-08		20444378	86905162	16	30871											
CHD8	57680	broad.mit.edu	37	14	21868155	21868155	+	Missense_Mutation	SNP	C	C	T			TCGA-HW-7487-01A-11D-2024-08	TCGA-HW-7487-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1abb741-4fcd-4161-b057-c7efd619cc99	eadcce99-923f-4b79-8c99-3656d412ea5a	g.chr14:21868155C>T	ENST00000399982.2	-	24	4866	c.4802G>A	c.(4801-4803)gGg>gAg	p.G1601E	CHD8_ENST00000430710.3_Missense_Mutation_p.G1322E|CHD8_ENST00000557364.1_Missense_Mutation_p.G1601E|CHD8_ENST00000555962.1_5'UTR	NM_001170629.1	NP_001164100.1	Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	1601					ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		AATCGCACCCCCTAACACCTT	0.423													71	180					0	0	0.870114	0	0	T	21868155	C	T	21868155	3	4	333	1	0	0	0	0	1	0	0	0	3353	623	22	2	2999	2	CHD8	14	21868155	Missense_Mutation	SNP	C	TCGA-HW-7487-01A-11D-2024-08	1423777	21868155	85481385	17	30872											
AHNAK2	113146	broad.mit.edu	37	14	105420366	105420366	+	Silent	SNP	G	G	A			TCGA-HW-7487-01A-11D-2024-08	TCGA-HW-7487-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1abb741-4fcd-4161-b057-c7efd619cc99	eadcce99-923f-4b79-8c99-3656d412ea5a	g.chr14:105420366G>A	ENST00000333244.5	-	7	1541	c.1422C>T	c.(1420-1422)ggC>ggT	p.G474G		NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	474						nucleus		p.G474G(1)		cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CAATCTGTGTGCCTCCTTCGG	0.522													8	48					0	0	0.307466	0	0	A	105420366	G	A	105420366	2	1	333	1	0	0	0	0	0	0	0	1	412	1306	46	2		2	AHNAK2	14	105420366	Silent	SNP	G	TCGA-HW-7487-01A-11D-2024-08	83552211	105420366	1929174	18	30873											
SPTBN5	51332	broad.mit.edu	37	15	42164528	42164528	+	Missense_Mutation	SNP	G	G	A			TCGA-HW-7487-01A-11D-2024-08	TCGA-HW-7487-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1abb741-4fcd-4161-b057-c7efd619cc99	eadcce99-923f-4b79-8c99-3656d412ea5a	g.chr15:42164528G>A	ENST00000320955.6	-	27	5364	c.5137C>T	c.(5137-5139)Cgg>Tgg	p.R1713W		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	1713					actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		TGCAGTGCCCGCAGCTGCTCC	0.637													8	16					0	0	0.27861	0	0	A	42164528	G	A	42164528	3	1	333	1	0	0	0	0	1	0	0	0	15178	1086	38	1	6055	1	SPTBN5	15	42164528	Missense_Mutation	SNP	G	TCGA-HW-7487-01A-11D-2024-08		42164528	60366864	19	30874											
RNF151	146310	broad.mit.edu	37	16	2018730	2018730	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HW-7487-01A-11D-2024-08	TCGA-HW-7487-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1abb741-4fcd-4161-b057-c7efd619cc99	eadcce99-923f-4b79-8c99-3656d412ea5a	g.chr16:2018730delC	ENST00000569714.1	+	4	550	c.542delC	c.(541-543)tccfs	p.S181fs	RNF151_ENST00000569210.2_3'UTR|RNF151_ENST00000321392.3_Frame_Shift_Del_p.S180fs	NM_174903.4	NP_777563.2	Q2KHN1	RN151_HUMAN	ring finger protein 151	181					cell differentiation|spermatogenesis	cytoplasm|nucleus	ubiquitin-protein ligase activity|zinc ion binding			kidney(1)|lung(1)	2						CTGCTGCTGTCCCTCCTGCGG	0.687													2	4	---	---	---	---						-	2018730	C	-	2018730	7	5	333	1	0	1	0	1	0	0	0	0	13504	855	30	0	556	0	RNF151	16	2018730	Frame_Shift_Del	DEL	C	TCGA-HW-7487-01A-11D-2024-08		2018730	88336023	20	30875											
LAMA3	3909	broad.mit.edu	37	18	21330907	21330907	+	Missense_Mutation	SNP	G	G	A			TCGA-HW-7487-01A-11D-2024-08	TCGA-HW-7487-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1abb741-4fcd-4161-b057-c7efd619cc99	eadcce99-923f-4b79-8c99-3656d412ea5a	g.chr18:21330907G>A	ENST00000313654.9	+	5	951	c.710G>A	c.(709-711)cGt>cAt	p.R237H	LAMA3_ENST00000399516.3_Missense_Mutation_p.R237H	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	237	Laminin N-terminal.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	ATAAACGGTCGTCCAGGTGCA	0.393													51	81					0	0	0.870114	0	0	A	21330907	G	A	21330907	3	1	333	1	0	0	0	0	1	0	0	0	8646	1145	40	1	728	1	LAMA3	18	21330907	Missense_Mutation	SNP	G	TCGA-HW-7487-01A-11D-2024-08		21330907	56746341	21	30876											
CIC	23152	broad.mit.edu	37	19	42791758	42791758	+	Missense_Mutation	SNP	G	G	A			TCGA-HW-7487-01A-11D-2024-08	TCGA-HW-7487-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1abb741-4fcd-4161-b057-c7efd619cc99	eadcce99-923f-4b79-8c99-3656d412ea5a	g.chr19:42791758G>A	ENST00000572681.2	+	6	3439	c.3371G>A	c.(3370-3372)cGg>cAg	p.R1124Q	CIC_ENST00000575354.2_Missense_Mutation_p.R215Q|CIC_ENST00000160740.3_Missense_Mutation_p.R215Q			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	215	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	p.R215Q(2)		autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				AAGCGGCACCGGGCCCTGGTC	0.612			"Mis, F, S"		oligodendroglioma								21	15					0	0	0.592651	0	0	A	42791758	G	A	42791758	3	1	333	1	0	0	0	0	1	0	0	0	3446	1116	39	1	662	1	CIC	19	42791758	Missense_Mutation	SNP	G	TCGA-HW-7487-01A-11D-2024-08		42791758	16337225	22	30877											
NLRP9	338321	broad.mit.edu	37	19	56249567	56249567	+	Silent	SNP	C	C	A			TCGA-HW-7487-01A-11D-2024-08	TCGA-HW-7487-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1abb741-4fcd-4161-b057-c7efd619cc99	eadcce99-923f-4b79-8c99-3656d412ea5a	g.chr19:56249567C>A	ENST00000332836.2	-	1	201	c.174G>T	c.(172-174)ctG>ctT	p.L58L		NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	58	DAPIN.					cytoplasm	ATP binding			NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		GTTTGTCCAGCAGCTTTGCTA	0.458													173	158					2.1706e-81	2.27396e-81	0.870114	1	0	A	56249567	C	A	56249567	2	1	333	1	0	0	0	0	0	0	0	1	10531	697	25	5		5	NLRP9	19	56249567	Silent	SNP	C	TCGA-HW-7487-01A-11D-2024-08	13457809	56249567	2879416	23	30878											
UMODL1	89766	broad.mit.edu	37	21	43519136	43519136	+	Silent	SNP	C	C	T			TCGA-HW-7487-01A-11D-2024-08	TCGA-HW-7487-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1abb741-4fcd-4161-b057-c7efd619cc99	eadcce99-923f-4b79-8c99-3656d412ea5a	g.chr21:43519136C>T	ENST00000400424.2	+	7	1212	c.816C>T	c.(814-816)gtC>gtT	p.V272V	UMODL1_ENST00000400427.1_Silent_p.V272V|UMODL1_ENST00000408989.2_Silent_p.V344V|UMODL1_ENST00000408910.2_Silent_p.V344V	NM_001199528.2	NP_001186457	Q5DID0	UROL1_HUMAN	uromodulin-like 1		EGF-like 1; calcium-binding (Potential).					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						CTTTCCATGTCCGGGTTTACC	0.542													32	59					0	0	0.750413	0	0	T	43519136	C	T	43519136	2	4	333	1	0	0	0	0	0	0	0	1	17040	842	30	2		2	UMODL1	21	43519136	Silent	SNP	C	TCGA-HW-7487-01A-11D-2024-08		43519136	4610759	24	30879											
CR1L	1379	broad.mit.edu	37	1	207890949	207890949	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HW-7489-01A-11D-2024-08	TCGA-HW-7489-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b715d3c6-d531-4459-b0c6-af666fee4ba0	33621334-7062-489b-933b-411706720ca0	g.chr1:207890949G>T	ENST00000508064.2	+	11	1615	c.1555G>T	c.(1555-1557)Gag>Tag	p.E519*		NM_175710.1	NP_783641.1	Q2VPA4	CR1L_HUMAN	complement component (3b/4b) receptor 1-like	519	Sushi 8.					cytoplasm|extracellular region|membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						CCTCATTGGGGAGAGCACCAT	0.542													9	165					1.76689e-08	2.06979e-08	1	1	0	T	207890949	G	T	207890949	4	4	334	1	0	0	0	0	0	1	0	0	3864	1175	41	5	1597	5	CR1L	1	207890949	Nonsense_Mutation	SNP	G	TCGA-HW-7489-01A-11D-2024-08		207890949	41359672	1	30880											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-HW-7489-01A-11D-2024-08	TCGA-HW-7489-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b715d3c6-d531-4459-b0c6-af666fee4ba0	33621334-7062-489b-933b-411706720ca0	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								17	52					0	0	1	0	0	T	209113112	C	T	209113112	3	4	334	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HW-7489-01A-11D-2024-08		209113112	34086261	2	30881											
IGSF10	285313	broad.mit.edu	37	3	151164878	151164878	+	Missense_Mutation	SNP	G	G	T			TCGA-HW-7489-01A-11D-2024-08	TCGA-HW-7489-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b715d3c6-d531-4459-b0c6-af666fee4ba0	33621334-7062-489b-933b-411706720ca0	g.chr3:151164878G>T	ENST00000282466.3	-	4	2890	c.2891C>A	c.(2890-2892)cCc>cAc	p.P964H		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	964					cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			ATTGTGCCTGGGTTCACTCAC	0.418													8	169					0.000157383	0.000169808	1	1	0	T	151164878	G	T	151164878	3	4	334	1	0	0	0	0	1	0	0	0	7641	1232	43	5	5040	5	IGSF10	3	151164878	Missense_Mutation	SNP	G	TCGA-HW-7489-01A-11D-2024-08		151164878	46857552	3	30882											
MECOM	2122	broad.mit.edu	37	3	168834410	168834410	+	Missense_Mutation	SNP	G	G	A			TCGA-HW-7489-01A-11D-2024-08	TCGA-HW-7489-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b715d3c6-d531-4459-b0c6-af666fee4ba0	33621334-7062-489b-933b-411706720ca0	g.chr3:168834410G>A	ENST00000464456.1	-	7	1886	c.686C>T	c.(685-687)aCg>aTg	p.T229M	MECOM_ENST00000392736.3_Missense_Mutation_p.T229M|MECOM_ENST00000433243.2_Missense_Mutation_p.T230M|MECOM_ENST00000264674.3_Missense_Mutation_p.T294M|MECOM_ENST00000472280.1_Missense_Mutation_p.T230M|MECOM_ENST00000468789.1_Missense_Mutation_p.T229M|MECOM_ENST00000494292.1_Missense_Mutation_p.T417M|MECOM_ENST00000460814.1_Missense_Mutation_p.T229M	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0							sequence-specific DNA binding transcription factor activity	p.T229R(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						TAAGGAAGACGTAGTGCTGAA	0.453													16	125					0	0	1	0	0	A	168834410	G	A	168834410	3	1	334	1	0	0	0	0	1	0	0	0	9472	1145	40	1	2509	1	MECOM	3	168834410	Missense_Mutation	SNP	G	TCGA-HW-7489-01A-11D-2024-08	17669532	168834410	29188020	4	30883											
FAM193A	8603	broad.mit.edu	37	4	2696820	2696820	+	Silent	SNP	C	C	T			TCGA-HW-7489-01A-11D-2024-08	TCGA-HW-7489-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b715d3c6-d531-4459-b0c6-af666fee4ba0	33621334-7062-489b-933b-411706720ca0	g.chr4:2696820C>T	ENST00000324666.5	+	15	2718	c.2367C>T	c.(2365-2367)tgC>tgT	p.C789C	FAM193A_ENST00000382839.3_Silent_p.C789C|FAM193A_ENST00000502458.1_Silent_p.C811C|FAM193A_ENST00000545951.1_Silent_p.C789C|FAM193A_ENST00000505311.1_Silent_p.C789C	NM_001256666.1	NP_001243595.1	P78312	F193A_HUMAN	family with sequence similarity 193, member A	789										NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	40						GCAAGTACTGCGACTGCTGCT	0.582													5	50					0	0	1	0	0	T	2696820	C	T	2696820	2	4	334	1	0	0	0	0	0	0	0	1	5556	776	27	1		1	FAM193A	4	2696820	Silent	SNP	C	TCGA-HW-7489-01A-11D-2024-08		2696820	188457456	5	30884											
KDM3B	51780	broad.mit.edu	37	5	137708439	137708439	+	Missense_Mutation	SNP	T	T	A			TCGA-HW-7489-01A-11D-2024-08	TCGA-HW-7489-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b715d3c6-d531-4459-b0c6-af666fee4ba0	33621334-7062-489b-933b-411706720ca0	g.chr5:137708439T>A	ENST00000314358.5	+	2	469	c.269T>A	c.(268-270)cTt>cAt	p.L90H		NM_016604.3	NP_057688	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	90					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						GTTATCGTGCTTCTGCTGGAA	0.507													35	59					0	0	1	0	0	A	137708439	T	A	137708439	3	1	334	1	0	0	0	0	1	0	0	0	8171	1609	56	5	275	5	KDM3B	5	137708439	Missense_Mutation	SNP	T	TCGA-HW-7489-01A-11D-2024-08		137708439	43206821	6	30885											
GRK6	2870	broad.mit.edu	37	5	176857877	176857877	+	Silent	SNP	C	C	T			TCGA-HW-7489-01A-11D-2024-08	TCGA-HW-7489-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b715d3c6-d531-4459-b0c6-af666fee4ba0	33621334-7062-489b-933b-411706720ca0	g.chr5:176857877C>T	ENST00000355472.5	+	2	225	c.57C>T	c.(55-57)ggC>ggT	p.G19G	GRK6_ENST00000528793.1_Silent_p.G19G|GRK6_ENST00000355958.5_Silent_p.G19G|GRK6_ENST00000393576.3_Silent_p.G19G|GRK6_ENST00000507633.1_Silent_p.G19G	NM_001004106.2|NM_002082.3	NP_001004106.1|NP_002073.2	P43250	GRK6_HUMAN	G protein-coupled receptor kinase 6	19	N-terminal.				regulation of G-protein coupled receptor protein signaling pathway	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity			breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(5)|stomach(1)	25	all_cancers(89;1.15e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCACAGGTGGCGGTGGAAATC	0.612													9	24					0	0	1	0	0	T	176857877	C	T	176857877	2	4	334	1	0	0	0	0	0	0	0	1	6834	755	27	1		1	GRK6	5	176857877	Silent	SNP	C	TCGA-HW-7489-01A-11D-2024-08	39149438	176857877	4057383	7	30886											
ADAMTSL1	92949	broad.mit.edu	37	9	18776969	18776969	+	Silent	SNP	C	C	T			TCGA-HW-7489-01A-11D-2024-08	TCGA-HW-7489-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b715d3c6-d531-4459-b0c6-af666fee4ba0	33621334-7062-489b-933b-411706720ca0	g.chr9:18776969C>T	ENST00000380548.4	+	19	3081	c.2742C>T	c.(2740-2742)gaC>gaT	p.D914D		NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	914	Ig-like C2-type 1.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		GGGAGAAGGACGGCCAGCACC	0.677													17	42					0	0	1	0	0	T	18776969	C	T	18776969	2	4	334	1	0	0	0	0	0	0	0	1	273	535	19	1		1	ADAMTSL1	9	18776969	Silent	SNP	C	TCGA-HW-7489-01A-11D-2024-08		18776969	122436462	8	30887											
MCM10	55388	broad.mit.edu	37	10	13231079	13231079	+	Splice_Site	SNP	A	A	G			TCGA-HW-7489-01A-11D-2024-08	TCGA-HW-7489-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b715d3c6-d531-4459-b0c6-af666fee4ba0	33621334-7062-489b-933b-411706720ca0	g.chr10:13231079A>G	ENST00000378694.1	+	9	1489	c.1414A>G	c.(1414-1416)Att>Gtt	p.I472V	MCM10_ENST00000378714.3_Splice_Site_p.I472V|MCM10_ENST00000484800.2_Splice_Site_p.I473V			Q7L590	MCM10_HUMAN	minichromosome maintenance complex component 10	473					cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle	nucleoplasm	metal ion binding|protein binding			central_nervous_system(1)|large_intestine(4)|ovary(2)|skin(1)|stomach(1)	9						TGCAGCTTCAATGTAAGACGT	0.478													11	68					0	0	1	0	0	G	13231079	A	G	13231079	5	3	334	1	0	0	0	0	0	0	1	0	9435	115	4	3	1451	3	MCM10	10	13231079	Splice_Site	SNP	A	TCGA-HW-7489-01A-11D-2024-08		13231079	122303668	9	30888											
TCF7L2	6934	broad.mit.edu	37	10	114912156	114912156	+	Missense_Mutation	SNP	T	T	G			TCGA-HW-7489-01A-11D-2024-08	TCGA-HW-7489-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b715d3c6-d531-4459-b0c6-af666fee4ba0	33621334-7062-489b-933b-411706720ca0	g.chr10:114912156T>G	ENST00000545257.1	+	11	1733	c.1226T>G	c.(1225-1227)cTt>cGt	p.L409R	TCF7L2_ENST00000369386.1_Missense_Mutation_p.L52R|TCF7L2_ENST00000466338.1_3'UTR|TCF7L2_ENST00000542695.1_Missense_Mutation_p.L125R|TCF7L2_ENST00000369389.1_Missense_Mutation_p.L120R|TCF7L2_ENST00000352065.5_Missense_Mutation_p.L386R|TCF7L2_ENST00000534894.1_Missense_Mutation_p.L409R|TCF7L2_ENST00000355717.4_Missense_Mutation_p.L433R|TCF7L2_ENST00000536810.1_Missense_Mutation_p.L409R|TCF7L2_ENST00000355995.4_Missense_Mutation_p.L409R|TCF7L2_ENST00000369397.4_Missense_Mutation_p.L386R|TCF7L2_ENST00000543371.1_Missense_Mutation_p.L409R|TCF7L2_ENST00000538897.1_Missense_Mutation_p.L409R			Q9NQB0	TF7L2_HUMAN	transcription factor 7-like 2 (T-cell specific, HMG-box)	409					anti-apoptosis|blood vessel development|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell cycle arrest|cell proliferation|fat cell differentiation|glucose homeostasis|maintenance of DNA repeat elements|myoblast cell fate commitment|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|pancreas development|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of insulin secretion|positive regulation of protein binding|positive regulation of protein export from nucleus|positive regulation of protein kinase B signaling cascade|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone metabolic process|regulation of smooth muscle cell proliferation|response to glucose stimulus	beta-catenin-TCF7L2 complex|PML body|protein-DNA complex	armadillo repeat domain binding|beta-catenin binding|gamma-catenin binding|nuclear hormone receptor binding|protein kinase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding		VTI1A/TCF7L2(8)	central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(24)|liver(2)|lung(8)|ovary(1)|skin(1)	41		Breast(234;0.058)|Colorectal(252;0.0615)		Epithelial(162;0.00554)|all cancers(201;0.02)		GAGCGACAGCTTCATATGCAA	0.527			T	VTI1A	colorectal								21	204					0	0	1	0	0	G	114912156	T	G	114912156	3	3	334	1	0	0	0	0	1	0	0	0	15758	1609	56	5	1413	5	TCF7L2	10	114912156	Missense_Mutation	SNP	T	TCGA-HW-7489-01A-11D-2024-08	101681077	114912156	20622591	10	30889											
FADS2	9415	broad.mit.edu	37	11	61630533	61630533	+	Missense_Mutation	SNP	C	C	G			TCGA-HW-7489-01A-11D-2024-08	TCGA-HW-7489-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b715d3c6-d531-4459-b0c6-af666fee4ba0	33621334-7062-489b-933b-411706720ca0	g.chr11:61630533C>G	ENST00000278840.4	+	8	1602	c.972C>G	c.(970-972)aaC>aaG	p.N324K	FADS2_ENST00000257261.6_Missense_Mutation_p.N302K|FADS2_ENST00000521849.1_Missense_Mutation_p.N324K|FADS2_ENST00000522056.1_Missense_Mutation_p.N293K	NM_004265.2	NP_004256.1	O95864	FADS2_HUMAN	fatty acid desaturase 2	324					electron transport chain|transport|unsaturated fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction	heme binding			breast(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	20					Alpha-Linolenic Acid(DB00132)	TTTTCCTCAACTTCATCAGGT	0.577													4	79					0	0	1	0	0	G	61630533	C	G	61630533	3	3	334	1	0	0	0	0	1	0	0	0	5397	564	20	4	1002	4	FADS2	11	61630533	Missense_Mutation	SNP	C	TCGA-HW-7489-01A-11D-2024-08		61630533	73375983	11	30890											
FAT3	120114	broad.mit.edu	37	11	92600243	92600243	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HW-7489-01A-11D-2024-08	TCGA-HW-7489-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b715d3c6-d531-4459-b0c6-af666fee4ba0	33621334-7062-489b-933b-411706720ca0	g.chr11:92600243C>T	ENST00000298047.6	+	21	12012	c.11995C>T	c.(11995-11997)Cag>Tag	p.Q3999*	FAT3_ENST00000409404.2_Nonsense_Mutation_p.Q3999*|FAT3_ENST00000525166.1_Nonsense_Mutation_p.Q3849*|FAT3_ENST00000533797.1_Nonsense_Mutation_p.Q334*			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3999	Laminin G-like.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GCTGCCGCTGCAGAACAAGCG	0.637										TCGA Ovarian(4;0.039)			6	5					0	0	1	0	0	T	92600243	C	T	92600243	4	4	334	1	0	0	0	0	0	1	0	0	5724	711	25	2	12077	2	FAT3	11	92600243	Nonsense_Mutation	SNP	C	TCGA-HW-7489-01A-11D-2024-08	30969710	92600243	42406273	12	30891											
SLCO1B1	10599	broad.mit.edu	37	12	21392093	21392093	+	Silent	SNP	T	T	C			TCGA-HW-7489-01A-11D-2024-08	TCGA-HW-7489-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b715d3c6-d531-4459-b0c6-af666fee4ba0	33621334-7062-489b-933b-411706720ca0	g.chr12:21392093T>C	ENST00000256958.2	+	15	2142	c.2046T>C	c.(2044-2046)tcT>tcC	p.S682S		NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family, member 1B1	682					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)	TTGTCCCTTCTGCTGGGGCAG	0.343													22	96					0	0	1	0	0	C	21392093	T	C	21392093	2	2	334	1	0	0	0	0	0	0	0	1	14778	1567	55	3		3	SLCO1B1	12	21392093	Silent	SNP	T	TCGA-HW-7489-01A-11D-2024-08		21392093	112459802	13	30892											
ANO6	196527	broad.mit.edu	37	12	45797221	45797221	+	Splice_Site	SNP	G	G	T			TCGA-HW-7489-01A-11D-2024-08	TCGA-HW-7489-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b715d3c6-d531-4459-b0c6-af666fee4ba0	33621334-7062-489b-933b-411706720ca0	g.chr12:45797221G>T	ENST00000320560.8	+	15	1984		c.e15-1		ANO6_ENST00000425752.2_Splice_Site|ANO6_ENST00000423947.3_Splice_Site|ANO6_ENST00000441606.2_Splice_Site|ANO6_ENST00000435642.1_Splice_Site|ANO6_ENST00000426898.2_Splice_Site	NM_001025356.2	NP_001020527.2	Q4KMQ2	ANO6_HUMAN	anoctamin 6						activation of blood coagulation via clotting cascade|phosphatidylserine exposure on blood platelet	chloride channel complex|plasma membrane	chloride channel activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						TAACCTTCTAGTGTGACCCAG	0.338													8	93					0.0381472	0.0401035	1	1	0	T	45797221	G	T	45797221	5	4	334	1	0	0	0	0	0	0	1	0	695	1043	36	4	1860	4	ANO6	12	45797221	Splice_Site	SNP	G	TCGA-HW-7489-01A-11D-2024-08	24405128	45797221	88054674	14	30893											
TRIM13	10206	broad.mit.edu	37	13	50586070	50586070	+	Splice_Site	SNP	G	G	A			TCGA-HW-7489-01A-11D-2024-08	TCGA-HW-7489-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b715d3c6-d531-4459-b0c6-af666fee4ba0	33621334-7062-489b-933b-411706720ca0	g.chr13:50586070G>A	ENST00000378182.3	+	2	732		c.e2-1		TRIM13_ENST00000356017.4_Splice_Site|TRIM13_ENST00000457662.2_Splice_Site|TRIM13_ENST00000420995.2_Splice_Site|TRIM13_ENST00000298772.5_Splice_Site|TRIM13_ENST00000478111.1_Intron	NM_001007278.1|NM_005798.3|NM_052811.2|NM_213590.1	NP_001007279.1|NP_005789.2|NP_434698.1|NP_998755.1	O60858	TRI13_HUMAN	tripartite motif containing 13						anatomical structure morphogenesis|ER-associated protein catabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination	cytoplasm|endoplasmic reticulum membrane|integral to membrane	protein binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			large_intestine(5)|lung(2)|ovary(2)|upper_aerodigestive_tract(1)	10		Acute lymphoblastic leukemia(7;3.41e-06)|Lung NSC(96;3.08e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;1.53e-10)|COAD - Colon adenocarcinoma(199;0.205)		TTTTCTGGTAGGATGTGATGG	0.373													26	65					0	0	1	0	0	A	50586070	G	A	50586070	5	1	334	1	0	0	0	0	0	0	1	0	16549	1014	35	2	9	2	TRIM13	13	50586070	Splice_Site	SNP	G	TCGA-HW-7489-01A-11D-2024-08		50586070	64583808	15	30894											
CD276	80381	broad.mit.edu	37	15	73992059	73992059	+	Splice_Site	SNP	G	G	A			TCGA-HW-7489-01A-11D-2024-08	TCGA-HW-7489-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b715d3c6-d531-4459-b0c6-af666fee4ba0	33621334-7062-489b-933b-411706720ca0	g.chr15:73992059G>A	ENST00000318443.5	+	2	381	c.79G>A	c.(79-81)Gga>Aga	p.G27R	CD276_ENST00000318424.5_Splice_Site_p.G27R|CD276_ENST00000537340.2_Intron|CD276_ENST00000561213.1_Splice_Site_p.G27R|CD276_ENST00000564751.1_Splice_Site_p.G27R	NM_001024736.1	NP_001019907.1	Q5ZPR3	CD276_HUMAN	CD276 molecule	27					cell proliferation|immune response|positive regulation of interferon-gamma biosynthetic process|positive regulation of T cell proliferation|regulation of immune response|T cell activation	external side of plasma membrane|integral to membrane	receptor binding			endometrium(3)|lung(5)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	13						CTGCCTCACAGGTGAGGGTAG	0.662													5	35					0	0	1	0	0	A	73992059	G	A	73992059	5	1	334	1	0	0	0	0	0	0	1	0	3014	1014	35	2	81	2	CD276	15	73992059	Splice_Site	SNP	G	TCGA-HW-7489-01A-11D-2024-08		73992059	28539333	16	30895											
TELO2	9894	broad.mit.edu	37	16	1552970	1552970	+	Missense_Mutation	SNP	C	C	A			TCGA-HW-7489-01A-11D-2024-08	TCGA-HW-7489-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b715d3c6-d531-4459-b0c6-af666fee4ba0	33621334-7062-489b-933b-411706720ca0	g.chr16:1552970C>A	ENST00000262319.6	+	15	2088	c.1809C>A	c.(1807-1809)aaC>aaA	p.N603K	TELO2_ENST00000564507.1_3'UTR	NM_016111.3	NP_057195.2	Q9Y4R8	TELO2_HUMAN	telomere maintenance 2	603						chromosome, telomeric region|cytoplasm|membrane|nucleus	protein binding			NS(1)|endometrium(1)|kidney(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	19		Hepatocellular(780;0.219)				ATGCCCTCAACTACAGCCTCC	0.642													6	142					5.18039e-06	5.89989e-06	1	1	0	A	1552970	C	A	1552970	3	1	334	1	0	0	0	0	1	0	0	0	15816	564	20	4	1863	4	TELO2	16	1552970	Missense_Mutation	SNP	C	TCGA-HW-7489-01A-11D-2024-08		1552970	88801783	17	30896											
CPPED1	55313	broad.mit.edu	37	16	12798613	12798613	+	Missense_Mutation	SNP	G	G	A			TCGA-HW-7489-01A-11D-2024-08	TCGA-HW-7489-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b715d3c6-d531-4459-b0c6-af666fee4ba0	33621334-7062-489b-933b-411706720ca0	g.chr16:12798613G>A	ENST00000381774.4	-	3	823	c.583C>T	c.(583-585)Cgg>Tgg	p.R195W	CPPED1_ENST00000261660.4_Intron|CPPED1_ENST00000433677.2_Intron	NM_018340.2	NP_060810.2	Q9BRF8	CPPED_HUMAN	calcineurin-like phosphoesterase domain containing 1	195							hydrolase activity|metal ion binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|urinary_tract(1)	18						TGGCAGTGCCGCTGCCTCGCG	0.602													20	74					0	0	1	0	0	A	12798613	G	A	12798613	3	1	334	1	0	0	0	0	1	0	0	0	3845	1086	38	1	369	1	CPPED1	16	12798613	Missense_Mutation	SNP	G	TCGA-HW-7489-01A-11D-2024-08	11245643	12798613	77556140	18	30897											
CDH16	1014	broad.mit.edu	37	16	66950067	66950067	+	Missense_Mutation	SNP	G	G	A			TCGA-HW-7489-01A-11D-2024-08	TCGA-HW-7489-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b715d3c6-d531-4459-b0c6-af666fee4ba0	33621334-7062-489b-933b-411706720ca0	g.chr16:66950067G>A	ENST00000299752.4	-	5	518	c.325C>T	c.(325-327)Cca>Tca	p.P109S	CDH16_ENST00000565796.1_Missense_Mutation_p.P109S|CDH16_ENST00000568632.1_Missense_Mutation_p.P109S|CDH16_ENST00000570262.1_Missense_Mutation_p.P29S|CDH16_ENST00000394055.3_Missense_Mutation_p.P109S	NM_001204744.1|NM_001204745.1|NM_004062.3	NP_001191673.1|NP_001191674.1|NP_004053.1	O75309	CAD16_HUMAN	cadherin 16, KSP-cadherin	109	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)		ACAGGCTGTGGACCCCACAAG	0.612													19	80					0	0	1	0	0	A	66950067	G	A	66950067	3	1	334	1	0	0	0	0	1	0	0	0	3123	1174	41	2	2220	2	CDH16	16	66950067	Missense_Mutation	SNP	G	TCGA-HW-7489-01A-11D-2024-08	54151454	66950067	23404686	19	30898											
TP53	7157	broad.mit.edu	37	17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	rs121913343		TCGA-HW-7489-01A-11D-2024-08	TCGA-HW-7489-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b715d3c6-d531-4459-b0c6-af666fee4ba0	33621334-7062-489b-933b-411706720ca0	g.chr17:7577121G>A	ENST00000420246.2	-	8	949	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000269305.4_Missense_Mutation_p.R273C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	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).		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.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			16	12					0	0	1	0	0	A	7577121	G	A	7577121	3	1	334	1	0	0	0	0	1	0	0	0	16442	1087	38	1	469	1	TP53	17	7577121	Missense_Mutation	SNP	G	TCGA-HW-7489-01A-11D-2024-08		7577121	73618089	20	30899											
C17orf103	256302	broad.mit.edu	37	17	21147493	21147493	+	Missense_Mutation	SNP	G	G	A			TCGA-HW-7489-01A-11D-2024-08	TCGA-HW-7489-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b715d3c6-d531-4459-b0c6-af666fee4ba0	33621334-7062-489b-933b-411706720ca0	g.chr17:21147493G>A	ENST00000399011.2	-	3	149	c.148C>T	c.(148-150)Cgg>Tgg	p.R50W	C17orf103_ENST00000468196.1_Silent_p.S50S	NM_152914.2	NP_690878.2	Q8N6N6	GTL3B_HUMAN	chromosome 17 open reading frame 103	51										endometrium(1)|kidney(2)|large_intestine(1)|lung(2)	6						TCCACGATCCGCTTGCCCACG	0.632													3	37					0	0	1	0	0	A	21147493	G	A	21147493	3	1	334	1	0	0	0	0	1	0	0	0	1857	1086	38	1	77	1	C17orf103	17	21147493	Missense_Mutation	SNP	G	TCGA-HW-7489-01A-11D-2024-08	13570372	21147493	60047717	21	30900											
C3	718	broad.mit.edu	37	19	6709693	6709693	+	Splice_Site	SNP	A	A	G			TCGA-HW-7489-01A-11D-2024-08	TCGA-HW-7489-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b715d3c6-d531-4459-b0c6-af666fee4ba0	33621334-7062-489b-933b-411706720ca0	g.chr19:6709693A>G	ENST00000245907.6	-	14	1938		c.e14+1			NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3						complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		ACTGGCCCTTACCTTACTCTG	0.627													26	181					0	0	1	0	0	G	6709693	A	G	6709693	5	3	334	1	0	0	0	0	0	0	1	0	2218	405	14	3	3256	3	C3	19	6709693	Splice_Site	SNP	A	TCGA-HW-7489-01A-11D-2024-08		6709693	52419290	22	30901											
CYP4F22	126410	broad.mit.edu	37	19	15648459	15648459	+	Missense_Mutation	SNP	G	G	A			TCGA-HW-7489-01A-11D-2024-08	TCGA-HW-7489-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b715d3c6-d531-4459-b0c6-af666fee4ba0	33621334-7062-489b-933b-411706720ca0	g.chr19:15648459G>A	ENST00000269703.3	+	6	734	c.535G>A	c.(535-537)Gct>Act	p.A179T	CYP4F22_ENST00000601005.2_Missense_Mutation_p.A179T	NM_173483.3	NP_775754.2	Q6NT55	CP4FN_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 22							endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen			endometrium(6)|large_intestine(9)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	37						CAACCAGAGCGCTGACATTAT	0.547													5	144					0	0	1	0	0	A	15648459	G	A	15648459	3	1	334	1	0	0	0	0	1	0	0	0	4212	1087	38	1	549	1	CYP4F22	19	15648459	Missense_Mutation	SNP	G	TCGA-HW-7489-01A-11D-2024-08	8938766	15648459	43480524	23	30902											
SIM2	6493	broad.mit.edu	37	21	38098527	38098527	+	Silent	SNP	G	G	A			TCGA-HW-7489-01A-11D-2024-08	TCGA-HW-7489-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b715d3c6-d531-4459-b0c6-af666fee4ba0	33621334-7062-489b-933b-411706720ca0	g.chr21:38098527G>A	ENST00000290399.6	+	6	1264	c.651G>A	c.(649-651)ctG>ctA	p.L217L	SIM2_ENST00000430056.3_Silent_p.L217L	NM_005069.3	NP_005060.1	Q14190	SIM2_HUMAN	single-minded family bHLH transcription factor 2	217					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(2)	16						GCCAGTCGCTGCCACCCAGTG	0.542													26	61					0	0	1	0	0	A	38098527	G	A	38098527	2	1	334	1	0	0	0	0	0	0	0	1	14379	1306	46	2		2	SIM2	21	38098527	Silent	SNP	G	TCGA-HW-7489-01A-11D-2024-08		38098527	10031368	24	30903											
PRR5-ARHGAP8	553158	broad.mit.edu	37	22	45221460	45221460	+	Missense_Mutation	SNP	G	G	A	rs140257857		TCGA-HW-7489-01A-11D-2024-08	TCGA-HW-7489-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b715d3c6-d531-4459-b0c6-af666fee4ba0	33621334-7062-489b-933b-411706720ca0	g.chr22:45221460G>A	ENST00000352766.7	+	12	1213	c.1213G>A	c.(1213-1215)Gtc>Atc	p.V405I	ARHGAP8_ENST00000336963.4_Missense_Mutation_p.V195I|ARHGAP8_ENST00000389773.5_Missense_Mutation_p.V317I|ARHGAP8_ENST00000356099.6_Missense_Mutation_p.V195I|ARHGAP8_ENST00000389774.2_Missense_Mutation_p.V226I|ARHGAP8_ENST00000517296.3_Missense_Mutation_p.V405I|PRR5-ARHGAP8_ENST00000361473.5_Missense_Mutation_p.V326I																breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(10)|prostate(1)|skin(8)	30						GCAGTTTGGCGTCAGTCTGCA	0.642													3	28					0	0	1	0	0	A	45221460	G	A	45221460	3	1	334	1	0	0	0	0	1	0	0	0	12651	1145	40	1	987	1	PRR5-ARHGAP8	22	45221460	Missense_Mutation	SNP	G	TCGA-HW-7489-01A-11D-2024-08		45221460	6083106	25	30904											
FRMPD4	9758	broad.mit.edu	37	X	12734264	12734264	+	Silent	SNP	C	C	T			TCGA-HW-7489-01A-11D-2024-08	TCGA-HW-7489-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b715d3c6-d531-4459-b0c6-af666fee4ba0	33621334-7062-489b-933b-411706720ca0	g.chrX:12734264C>T	ENST00000380682.1	+	15	2192	c.1686C>T	c.(1684-1686)ggC>ggT	p.G562G		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	562					positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						CCTTTATTGGCGAAGGGGAAC	0.468													9	75					0	0	1	0	0	T	12734264	C	T	12734264	2	4	334	1	0	0	0	0	0	0	0	1	6094	755	27	1		1	FRMPD4	23	12734264	Silent	SNP	C	TCGA-HW-7489-01A-11D-2024-08		12734264	142536296	26	30905											
ATRX	546	broad.mit.edu	37	X	76938654	76938655	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HW-7489-01A-11D-2024-08	TCGA-HW-7489-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b715d3c6-d531-4459-b0c6-af666fee4ba0	33621334-7062-489b-933b-411706720ca0	g.chrX:76938654_76938655insT	ENST00000373344.5	-	9	2307_2308	c.2093_2094insA	c.(2092-2094)aagfs	p.K698fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Ins_p.K660fs	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	698					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)	TACGCTTATCCTTTTTTCTCAC	0.356			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						77	55	---	---	---	---						T	76938655	-	T	76938654	7	5	334	1	0	1	1	0	0	0	0	0	1206	680	24	0	5492	0	ATRX	23	76938654	Frame_Shift_Ins	INS	-	TCGA-HW-7489-01A-11D-2024-08	64204390	76938654	78331906	27	30906											
SAMD11	148398	broad.mit.edu	37	1	861308	861308	+	Missense_Mutation	SNP	G	G	C			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr1:861308G>C	ENST00000598827.1	-	6	291	c.292C>G	c.(292-294)Ctt>Gtt	p.L98V	SAMD11_ENST00000342066.3_5'UTR																							GCAGGGAAAAGTCTGAAGACG	0.662													11	49					0	0	0.000978159	0	0	C	861308	G	C	861308	3	2	335	1	0	0	0	0	1	0	0	0	13868	1044	36	4		4	SAMD11	1	861308	Missense_Mutation	SNP	G	TCGA-HW-7490-01A-11D-2024-08		861308	248389313	1	30907											
ARHGEF10L	55160	broad.mit.edu	37	1	17961457	17961457	+	Missense_Mutation	SNP	G	G	C			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr1:17961457G>C	ENST00000361221.3	+	18	2032	c.1873G>C	c.(1873-1875)Gtg>Ctg	p.V625L	ARHGEF10L_ENST00000375408.3_Missense_Mutation_p.V398L|ARHGEF10L_ENST00000375420.3_Missense_Mutation_p.V383L|ARHGEF10L_ENST00000452522.1_Missense_Mutation_p.V586L|ARHGEF10L_ENST00000469726.1_3'UTR|ARHGEF10L_ENST00000434513.1_Missense_Mutation_p.V620L|ARHGEF10L_ENST00000167825.4_Missense_Mutation_p.V328L|ARHGEF10L_ENST00000375415.1_Missense_Mutation_p.V586L	NM_018125.3	NP_060595	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10-like	625					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		CAAGGACAATGTGCTCATCCA	0.642													3	43					0	0	0.00024832	0	0	C	17961457	G	C	17961457	3	2	335	1	0	0	0	0	1	0	0	0	892	1377	48	5	1939	5	ARHGEF10L	1	17961457	Missense_Mutation	SNP	G	TCGA-HW-7490-01A-11D-2024-08	17100149	17961457	231289164	2	30908											
ARID1A	8289	broad.mit.edu	37	1	27057848	27057848	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr1:27057848delC	ENST00000324856.7	+	3	1927	c.1556delC	c.(1555-1557)tccfs	p.S519fs	ARID1A_ENST00000457599.2_Frame_Shift_Del_p.S519fs|ARID1A_ENST00000374152.2_Frame_Shift_Del_p.S136fs	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	519					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CCTCCATACTCCCAGCAGCCA	0.632			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"								25	245	---	---	---	---						-	27057848	C	-	27057848	7	5	335	1	0	1	0	1	0	0	0	0	910	855	30	0	1566	0	ARID1A	1	27057848	Frame_Shift_Del	DEL	C	TCGA-HW-7490-01A-11D-2024-08	9096391	27057848	222192773	3	30909											
S1PR1	1901	broad.mit.edu	37	1	101705575	101705575	+	Silent	SNP	C	C	T			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr1:101705575C>T	ENST00000305352.6	+	2	1410	c.1035C>T	c.(1033-1035)atC>atT	p.I345I		NM_001400.4	NP_001391.2	P21453	S1PR1_HUMAN	sphingosine-1-phosphate receptor 1	345					cell adhesion	integral to membrane	lysosphingolipid and lysophosphatidic acid receptor activity			NS(1)|autonomic_ganglia(1)|breast(1)|large_intestine(7)|lung(23)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	43						GACCCATCATCGCCGGCATGG	0.557													7	154					0	0	0.00198382	0	0	T	101705575	C	T	101705575	2	4	335	1	0	0	0	0	0	0	0	1	13845	874	31	1		1	S1PR1	1	101705575	Silent	SNP	C	TCGA-HW-7490-01A-11D-2024-08	74647727	101705575	147545046	4	30910											
ASPM	259266	broad.mit.edu	37	1	197070598	197070599	+	Frame_Shift_Del	DEL	TC	TC	-	rs144088344	by1000genomes	TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr1:197070598_197070599delTC	ENST00000367409.4	-	18	8038_8039	c.7782_7783delGA	c.(7780-7785)cagaaafs	p.K2595fs	ASPM_ENST00000294732.7_Intron|ASPM_ENST00000367408.1_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	2595					mitosis	cytoplasm|nucleus	calmodulin binding	p.Q2594Q(1)		breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						TGAAATACTTTCTGTTTCTTTT	0.356													12	33	---	---	---	---						-	197070599	TC	-	197070598	7	5	335	1	0	1	0	1	0	0	0	0	1055	1792	62	0	2694	0	ASPM	1	197070598	Frame_Shift_Del	DEL	TC	TCGA-HW-7490-01A-11D-2024-08	95365023	197070598	52180023	5	30911											
USH2A	7399	broad.mit.edu	37	1	215914869	215914869	+	Silent	SNP	T	T	C			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr1:215914869T>C	ENST00000366943.2	-	60	11945	c.11559A>G	c.(11557-11559)ggA>ggG	p.G3853G	USH2A_ENST00000307340.3_Silent_p.G3853G			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3853	Fibronectin type-III 23.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TACTGCTAACTCCACAACTTC	0.358										HNSCC(13;0.011)			7	63					0	0	0.000442599	0	0	C	215914869	T	C	215914869	2	2	335	1	0	0	0	0	0	0	0	1	17096	1538	54	3		3	USH2A	1	215914869	Silent	SNP	T	TCGA-HW-7490-01A-11D-2024-08	18844271	215914869	33335752	6	30912											
OR2M5	127059	broad.mit.edu	37	1	248308952	248308952	+	Missense_Mutation	SNP	A	A	G			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr1:248308952A>G	ENST00000366476.1	+	1	503	c.503A>G	c.(502-504)tAc>tGc	p.Y168C		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	168					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			TCCTTCTCCTACTGTGGGTCT	0.443													12	318					0	0	0.00185496	0	0	G	248308952	A	G	248308952	3	3	335	1	0	0	0	0	1	0	0	0	11061	391	14	3	505	3	OR2M5	1	248308952	Missense_Mutation	SNP	A	TCGA-HW-7490-01A-11D-2024-08	32394083	248308952	941669	7	30913											
OR2M7	391196	broad.mit.edu	37	1	248487368	248487368	+	Missense_Mutation	SNP	T	T	C			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr1:248487368T>C	ENST00000317965.2	-	1	531	c.503A>G	c.(502-504)tAc>tGc	p.Y168C		NM_001004691.1	NP_001004691.1	Q8NG81	OR2M7_HUMAN	olfactory receptor, family 2, subfamily M, member 7	168					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(6)|large_intestine(3)|lung(29)|skin(3)	42	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			AGACCCACAGTAGGAGAAGGA	0.448													108	174					0	0	0.00361006	0	0	C	248487368	T	C	248487368	3	2	335	1	0	0	0	0	1	0	0	0	11062	1638	57	3	438	3	OR2M7	1	248487368	Missense_Mutation	SNP	T	TCGA-HW-7490-01A-11D-2024-08	178416	248487368	763253	8	30914											
ELMOD3	84173	broad.mit.edu	37	2	85617291	85617291	+	Silent	SNP	C	C	T			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr2:85617291C>T	ENST00000315658.7	+	11	1105	c.846C>T	c.(844-846)ccC>ccT	p.P282P	ELMOD3_ENST00000409344.3_Silent_p.P282P|ELMOD3_ENST00000409013.3_Silent_p.P282P|ELMOD3_ENST00000409890.2_Silent_p.P282P|ELMOD3_ENST00000490508.1_3'UTR|ELMOD3_ENST00000393852.4_Silent_p.P282P	NM_032213.4	NP_115589.2	Q96FG2	ELMD3_HUMAN	ELMO/CED-12 domain containing 3	282	ELMO.				phagocytosis	cytoskeleton				endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)	12						AGGTCATCCCCGTGGTGAACA	0.567													23	40					0	0	0.000720815	0	0	T	85617291	C	T	85617291	2	4	335	1	0	0	0	0	0	0	0	1	5098	639	23	1		1	ELMOD3	2	85617291	Silent	SNP	C	TCGA-HW-7490-01A-11D-2024-08		85617291	157582082	9	30915											
GPR39	2863	broad.mit.edu	37	2	133175296	133175296	+	Silent	SNP	C	C	T			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr2:133175296C>T	ENST00000329321.3	+	1	1150	c.681C>T	c.(679-681)gcC>gcT	p.A227A		NM_001508.2	NP_001499.1	O43194	GPR39_HUMAN	G protein-coupled receptor 39	227						integral to plasma membrane	G-protein coupled receptor activity|metal ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TCTTCGGCGCCTTCGTGGTCT	0.612													30	46					0	0	0.001512	0	0	T	133175296	C	T	133175296	2	4	335	1	0	0	0	0	0	0	0	1	6733	668	24	2		2	GPR39	2	133175296	Silent	SNP	C	TCGA-HW-7490-01A-11D-2024-08	47558005	133175296	110024077	10	30916											
TANK	10010	broad.mit.edu	37	2	162087893	162087893	+	Missense_Mutation	SNP	C	C	T			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr2:162087893C>T	ENST00000392749.2	+	7	1171	c.932C>T	c.(931-933)cCc>cTc	p.P311L	AC009299.2_ENST00000445372.1_RNA|TANK_ENST00000406287.1_Intron|TANK_ENST00000402568.1_Intron|AC009299.2_ENST00000421122.2_RNA|TANK_ENST00000405852.1_Missense_Mutation_p.P311L|TANK_ENST00000259075.2_Missense_Mutation_p.P311L	NM_001199135.1	NP_001186064.1	Q92844	TANK_HUMAN	TRAF family member-associated NFKB activator	311						cytosol	metal ion binding|protein binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)	21						AAAACAAAGCCCTCAAATCTC	0.383													9	106					0	0	0.000673444	0	0	T	162087893	C	T	162087893	3	4	335	1	0	0	0	0	1	0	0	0	15603	623	22	2	987	2	TANK	2	162087893	Missense_Mutation	SNP	C	TCGA-HW-7490-01A-11D-2024-08	28912597	162087893	81111480	11	30917											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								19	53					0	0	0.00229938	0	0	T	209113112	C	T	209113112	3	4	335	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HW-7490-01A-11D-2024-08	47025219	209113112	34086261	12	30918											
CCDC108	255101	broad.mit.edu	37	2	219868814	219868814	+	Silent	SNP	C	C	T	rs73089095	byFrequency	TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr2:219868814C>T	ENST00000341552.5	-	33	5498	c.5415G>A	c.(5413-5415)aaG>aaA	p.K1805K	CCDC108_ENST00000441968.1_Silent_p.K1805K|CCDC108_ENST00000453220.1_Silent_p.K1805K|AC097468.4_ENST00000441450.1_RNA	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	1805	Glu-rich.					integral to membrane	structural molecule activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CTTTctcttccttctcatccc	0.557													5	121					0	0	0.000602214	0	0	T	219868814	C	T	219868814	2	4	335	1	0	0	0	0	0	0	0	1	2761	680	24	2		2	CCDC108	2	219868814	Silent	SNP	C	TCGA-HW-7490-01A-11D-2024-08	10755702	219868814	23330559	13	30919											
SLC6A11	6538	broad.mit.edu	37	3	10885932	10885932	+	Missense_Mutation	SNP	G	G	C			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr3:10885932G>C	ENST00000254488.2	+	5	723	c.657G>C	c.(655-657)gaG>gaC	p.E219D		NM_014229.1	NP_055044.1	P48066	S6A11_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 11	219					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(13)|ovary(1)|skin(4)	35				OV - Ovarian serous cystadenocarcinoma(96;0.229)		ACGGGATCGAGCACATCGGGA	0.587													3	41					0	0	0.00024832	0	0	C	10885932	G	C	10885932	3	2	335	1	0	0	0	0	1	0	0	0	14729	962	34	4	675	4	SLC6A11	3	10885932	Missense_Mutation	SNP	G	TCGA-HW-7490-01A-11D-2024-08		10885932	187136498	14	30920											
AMOTL2	51421	broad.mit.edu	37	3	134078153	134078155	+	In_Frame_Del	DEL	TGT	TGT	-			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr3:134078153_134078155delTGT	ENST00000514516.1	-	8	2426_2428	c.2248_2250delACA	c.(2248-2250)acadel	p.T750del	AMOTL2_ENST00000422605.2_In_Frame_Del_p.T692del|AMOTL2_ENST00000513145.1_In_Frame_Del_p.T690del|AMOTL2_ENST00000249883.5_In_Frame_Del_p.T692del	NM_001278683.1	NP_001265612.1	Q9Y2J4	AMOL2_HUMAN	angiomotin like 2	692										endometrium(8)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	19						GGGCGTCTGCTGTTTGTCGCTCA	0.596													21	67	---	---	---	---						-	134078155	TGT	-	134078153	7	5	335	1	0	1	0	1	0	0	0	0	580	1567	55	0	278	0	AMOTL2	3	134078153	In_Frame_Del	DEL	TGT	TCGA-HW-7490-01A-11D-2024-08	123192221	134078153	63944277	15	30921											
MAN2B2	23324	broad.mit.edu	37	4	6612960	6612960	+	Silent	SNP	C	C	T			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr4:6612960C>T	ENST00000285599.3	+	15	2554	c.2518C>T	c.(2518-2520)Ctg>Ttg	p.L840L	MAN2B2_ENST00000504248.1_Silent_p.L789L	NM_015274.1	NP_056089.1	Q9Y2E5	MA2B2_HUMAN	mannosidase, alpha, class 2B, member 2	840					mannose metabolic process	extracellular region	alpha-mannosidase activity|carbohydrate binding|zinc ion binding			breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	30						GAGGAGCGCACTGGCGCTGCA	0.627													15	21					0	0	0.00316338	0	0	T	6612960	C	T	6612960	2	4	335	1	0	0	0	0	0	0	0	1	9267	564	20	2		2	MAN2B2	4	6612960	Silent	SNP	C	TCGA-HW-7490-01A-11D-2024-08		6612960	184541316	16	30922											
SLIT2	9353	broad.mit.edu	37	4	20598163	20598163	+	Missense_Mutation	SNP	C	C	T			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr4:20598163C>T	ENST00000504154.1	+	32	3698	c.3446C>T	c.(3445-3447)cCt>cTt	p.P1149L	SLIT2_ENST00000503823.1_Missense_Mutation_p.P1141L|SLIT2_ENST00000503837.1_Missense_Mutation_p.P1145L|SLIT2_ENST00000273739.5_Missense_Mutation_p.P1162L	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	1149	EGF-like 6.				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						CAGTGTTTGCCTGGCTATCAG	0.433													4	66					0	0	0.00024832	0	0	T	20598163	C	T	20598163	3	4	335	1	0	0	0	0	1	0	0	0	14794	681	24	2	3572	2	SLIT2	4	20598163	Missense_Mutation	SNP	C	TCGA-HW-7490-01A-11D-2024-08	13985203	20598163	170556113	17	30923											
COL25A1	84570	broad.mit.edu	37	4	109805344	109805344	+	Missense_Mutation	SNP	G	G	A			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr4:109805344G>A	ENST00000399132.1	-	19	1540	c.1010C>T	c.(1009-1011)cCg>cTg	p.P337L	COL25A1_ENST00000399126.1_Missense_Mutation_p.P337L|COL25A1_ENST00000399127.1_Missense_Mutation_p.P333L	NM_198721.2	NP_942014.1	Q9BXS0	COPA1_HUMAN	collagen, type XXV, alpha 1	337	Collagen-like 4.					collagen|extracellular space	beta-amyloid binding|heparin binding			NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		CTTTATCCCCGGAAGTCCAGG	0.413													21	43					0	0	0.00278032	0	0	A	109805344	G	A	109805344	3	1	335	1	0	0	0	0	1	0	0	0	3707	1116	39	1	1118	1	COL25A1	4	109805344	Missense_Mutation	SNP	G	TCGA-HW-7490-01A-11D-2024-08	89207181	109805344	81348932	18	30924											
KLKB1	3818	broad.mit.edu	37	4	187158067	187158067	+	Missense_Mutation	SNP	C	C	T			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr4:187158067C>T	ENST00000264690.6	+	5	648	c.461C>T	c.(460-462)aCg>aTg	p.T154M	KLKB1_ENST00000513864.1_Missense_Mutation_p.T154M	NM_000892.3	NP_000883.2	P03952	KLKB1_HUMAN	kallikrein B, plasma (Fletcher factor) 1	154	Apple 2.				blood coagulation, intrinsic pathway|Factor XII activation|fibrinolysis|plasminogen activation|positive regulation of fibrinolysis	cytoplasm|extracellular space|plasma membrane	serine-type endopeptidase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	40		all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168)		TCATATGCCACGCAAACATTT	0.408													5	58					0	0	0.00198382	0	0	T	187158067	C	T	187158067	3	4	335	1	0	0	0	0	1	0	0	0	8455	536	19	1	475	1	KLKB1	4	187158067	Missense_Mutation	SNP	C	TCGA-HW-7490-01A-11D-2024-08	77352723	187158067	3996209	19	30925											
TNIP1	10318	broad.mit.edu	37	5	150425452	150425454	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr5:150425452_150425454delCTT	ENST00000389378.2	-	9	1492_1494	c.904_906delAAG	c.(904-906)aagdel	p.K302del	TNIP1_ENST00000523200.1_In_Frame_Del_p.K302del|TNIP1_ENST00000521423.1_Intron|TNIP1_ENST00000522226.1_In_Frame_Del_p.K302del|TNIP1_ENST00000523338.1_In_Frame_Del_p.K302del|TNIP1_ENST00000315050.7_In_Frame_Del_p.K302del|TNIP1_ENST00000520931.1_In_Frame_Del_p.K249del|TNIP1_ENST00000524280.1_In_Frame_Del_p.K302del|TNIP1_ENST00000521591.1_In_Frame_Del_p.K302del|TNIP1_ENST00000518977.1_In_Frame_Del_p.K302del	NM_001252385.1|NM_001252393.1|NM_001258454.1|NM_006058.4	NP_001239314.1|NP_001239322.1|NP_001245383.1|NP_006049.3	Q15025	TNIP1_HUMAN	TNFAIP3 interacting protein 1	302	Interacts with Nef.				defense response|glycoprotein biosynthetic process|negative regulation of viral genome replication|translation	cytoplasm|nucleus	protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(5)|ovary(2)|prostate(2)|skin(3)	23		Medulloblastoma(196;0.0911)|all_hematologic(541;0.207)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GCATCTTCACCTTCTTCTCGGCT	0.601													14	96	---	---	---	---						-	150425454	CTT	-	150425452	7	5	335	1	0	1	0	1	0	0	0	0	16374	680	24	0	1044	0	TNIP1	5	150425452	In_Frame_Del	DEL	CTT	TCGA-HW-7490-01A-11D-2024-08		150425452	30489808	20	30926											
SCAND3	114821	broad.mit.edu	37	6	28540794	28540794	+	Missense_Mutation	SNP	A	A	G			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr6:28540794A>G	ENST00000452236.2	-	4	3489	c.2872T>C	c.(2872-2874)Tgt>Cgt	p.C958R		NM_052923.1	NP_443155.1	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	958					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						tccaaaccacatttgttaaca	0.353													9	45					0	0	0.000274275	0	0	G	28540794	A	G	28540794	3	3	335	1	0	0	0	0	1	0	0	0	13929	217	8	3	1109	3	SCAND3	6	28540794	Missense_Mutation	SNP	A	TCGA-HW-7490-01A-11D-2024-08		28540794	142574273	21	30927											
KIAA1009	22832	broad.mit.edu	37	6	84896099	84896100	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr6:84896099_84896100insA	ENST00000403245.3	-	12	1465_1466	c.1351_1352insT	c.(1351-1353)aaafs	p.K451fs	KIAA1009_ENST00000461137.1_5'UTR|KIAA1009_ENST00000257766.4_Frame_Shift_Ins_p.K375fs	NM_014895.2	NP_055710.2	Q5TB80	QN1_HUMAN	KIAA1009	451					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)		AACAGTTATTTTTTTCCTCAAA	0.307													19	54	---	---	---	---						A	84896100	-	A	84896099	7	5	335	1	0	1	1	0	0	0	0	0	8245	1841	64	0	2923	0	KIAA1009	6	84896099	Frame_Shift_Ins	INS	-	TCGA-HW-7490-01A-11D-2024-08	56355305	84896099	86218968	22	30928	137	2									
KIAA1009	22832	broad.mit.edu	37	6	84896105	84896105	+	Missense_Mutation	SNP	C	C	A			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr6:84896105C>A	ENST00000403245.3	-	12	1460	c.1346G>T	c.(1345-1347)aGg>aTg	p.R449M	KIAA1009_ENST00000461137.1_5'UTR|KIAA1009_ENST00000257766.4_Missense_Mutation_p.R373M	NM_014895.2	NP_055710.2	Q5TB80	QN1_HUMAN	KIAA1009	449					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)		TATTTTTTTCCTCAAAATATT	0.308													24	56					9.95505e-16	3.13339e-15	0.00229938	1	0	A	84896105	C	A	84896105	3	1	335	1	0	0	0	0	1	0	0	0	8245	681	24	4	2929	4	KIAA1009	6	84896105	Missense_Mutation	SNP	C	TCGA-HW-7490-01A-11D-2024-08	6	84896105	86218962	23	30929	137	2									
CDK14	5218	broad.mit.edu	37	7	90613505	90613505	+	Silent	SNP	T	T	A			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr7:90613505T>A	ENST00000406263.1	+	9	1294	c.852T>A	c.(850-852)gcT>gcA	p.A284A	CDK14_ENST00000265741.3_Silent_p.A312A|CDK14_ENST00000380050.3_Silent_p.A330A|CDK14_ENST00000436577.2_Silent_p.A201A			O94921	CDK14_HUMAN	cyclin-dependent kinase 14	330	Protein kinase.				cell division|G2/M transition of mitotic cell cycle|regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytoplasmic cyclin-dependent protein kinase holoenzyme complex|nucleus|plasma membrane	ATP binding|cyclin binding|cyclin-dependent protein kinase activity			breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(12)|ovary(1)|skin(4)	32						AAGGAGTTGCTGCTTTTCCAG	0.348													38	100					0	0	0.00148497	0	0	A	90613505	T	A	90613505	2	1	335	1	0	0	0	0	0	0	0	1	3152	1567	55	5		5	CDK14	7	90613505	Silent	SNP	T	TCGA-HW-7490-01A-11D-2024-08		90613505	68525158	24	30930											
CYP3A7	1551	broad.mit.edu	37	7	99312223	99312224	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr7:99312223_99312224delTT	ENST00000336374.2	-	8	754_755	c.752_753delAA	c.(751-753)aaafs	p.K251fs		NM_000765.3	NP_000756.2	P24462	CP3A7_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 7	251					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			autonomic_ganglia(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	32	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)					GTTTTACAGATTTTGTTAGAAA	0.312													19	90	---	---	---	---						-	99312224	TT	-	99312223	7	5	335	1	0	1	0	1	0	0	0	0	4204	1490	52	0	782	0	CYP3A7	7	99312223	Frame_Shift_Del	DEL	TT	TCGA-HW-7490-01A-11D-2024-08	8698718	99312223	59826440	25	30931											
GIGYF1	64599	broad.mit.edu	37	7	100280314	100280314	+	Silent	SNP	G	G	A			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr7:100280314G>A	ENST00000275732.5	-	20	3708	c.2499C>T	c.(2497-2499)ggC>ggT	p.G833G		NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN	GRB10 interacting GYF protein 1	833										central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					CGCTGCTGCCGCCCCCACTCT	0.697													5	16					0	0	0.00198382	0	0	A	100280314	G	A	100280314	2	1	335	1	0	0	0	0	0	0	0	1	6419	1074	38	1		1	GIGYF1	7	100280314	Silent	SNP	G	TCGA-HW-7490-01A-11D-2024-08	968091	100280314	58858349	26	30932											
XKR9	389668	broad.mit.edu	37	8	71646066	71646066	+	Missense_Mutation	SNP	T	T	C			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr8:71646066T>C	ENST00000408926.3	+	5	1063	c.529T>C	c.(529-531)Tgg>Cgg	p.W177R	XKR9_ENST00000520030.1_Missense_Mutation_p.W177R|XKR9_ENST00000520273.1_Intron	NM_001011720.1	NP_001011720.1	Q5GH70	XKR9_HUMAN	XK, Kell blood group complex subunit-related family, member 9	177						integral to membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(4)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19	Breast(64;0.0716)		Epithelial(68;0.00301)|all cancers(69;0.0165)|OV - Ovarian serous cystadenocarcinoma(28;0.0524)|BRCA - Breast invasive adenocarcinoma(89;0.166)			TGCTATTTCTTGGTCAACTGT	0.299													5	47					0	0	0.00116845	0	0	C	71646066	T	C	71646066	3	2	335	1	0	0	0	0	1	0	0	0	17498	1812	63	3	539	3	XKR9	8	71646066	Missense_Mutation	SNP	T	TCGA-HW-7490-01A-11D-2024-08		71646066	74717956	27	30933											
RUNX1T1	862	broad.mit.edu	37	8	93026829	93026829	+	Missense_Mutation	SNP	C	C	T			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr8:93026829C>T	ENST00000523629.1	-	4	900	c.446G>A	c.(445-447)cGc>cAc	p.R149H	RUNX1T1_ENST00000422361.2_Missense_Mutation_p.R112H|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.R149H|RUNX1T1_ENST00000521553.1_Missense_Mutation_p.R112H|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.R122H|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.R160H|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.R112H|RUNX1T1_ENST00000520724.1_Missense_Mutation_p.R112H|RUNX1T1_ENST00000518844.1_Missense_Mutation_p.R122H	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	149	TAFH.				generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R160H(1)|p.R112H(1)|p.R149H(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			AACGAGGGTGCGAACTCTTTC	0.507													12	83					0	0	0.00136819	0	0	T	93026829	C	T	93026829	3	4	335	1	0	0	0	0	1	0	0	0	13799	768	27	1	1404	1	RUNX1T1	8	93026829	Missense_Mutation	SNP	C	TCGA-HW-7490-01A-11D-2024-08	21380763	93026829	53337193	28	30934											
CDH17	1015	broad.mit.edu	37	8	95182644	95182644	+	Silent	SNP	G	G	A			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr8:95182644G>A	ENST00000027335.3	-	9	1171	c.1047C>T	c.(1045-1047)gtC>gtT	p.V349V	CDH17_ENST00000441892.2_Intron|CDH17_ENST00000450165.2_Silent_p.V349V	NM_004063.3	NP_004054.3	Q12864	CAD17_HUMAN	cadherin 17, LI cadherin (liver-intestine)	349	Cadherin 4.					integral to membrane	calcium ion binding			NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			CATTCTCCTGGACCTCAAATA	0.438													60	86					0	0	0.00361006	0	0	A	95182644	G	A	95182644	2	1	335	1	0	0	0	0	0	0	0	1	3124	1161	41	2		2	CDH17	8	95182644	Silent	SNP	G	TCGA-HW-7490-01A-11D-2024-08	2155815	95182644	51181378	29	30935											
RANBP6	26953	broad.mit.edu	37	9	6013101	6013102	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr9:6013101_6013102delAG	ENST00000259569.5	-	1	2516_2517	c.2506_2507delCT	c.(2506-2508)ctgfs	p.L836fs		NM_001243202.1|NM_001243203.1|NM_012416.3	NP_001230131.1|NP_001230132.1|NP_036548.1	O60518	RNBP6_HUMAN	RAN binding protein 6	836					protein transport	cytoplasm|nucleus	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(5)|large_intestine(8)|lung(9)|ovary(7)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)		CTCATCTTGCAGAGACATCTCA	0.337													24	99	---	---	---	---						-	6013102	AG	-	6013101	7	5	335	1	0	1	0	1	0	0	0	0	13083	188	7	0	814	0	RANBP6	9	6013101	Frame_Shift_Del	DEL	AG	TCGA-HW-7490-01A-11D-2024-08		6013101	135200330	30	30936											
UHRF2	115426	broad.mit.edu	37	9	6497275	6497278	+	Frame_Shift_Del	DEL	CAGT	CAGT	-			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr9:6497275_6497278delCAGT	ENST00000276893.5	+	11	1850_1853	c.1682_1685delCAGT	c.(1681-1686)ccagtcfs	p.PV561fs	UHRF2_ENST00000485617.2_3'UTR	NM_152896.2	NP_690856.1	Q96PU4	UHRF2_HUMAN	ubiquitin-like with PHD and ring finger domains 2, E3 ubiquitin protein ligase	561	Methyl-CpG binding and interaction with HDAC1.|YDG.				cell cycle|cell differentiation|cell proliferation|protein autoubiquitination|regulation of cell cycle|ubiquitin-dependent protein catabolic process	nucleus	DNA binding|histone binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(2)|endometrium(2)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)	17		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0392)|Lung(218;0.129)		GCTGGTAAGCCAGTCAGAGTGATA	0.426													16	43	---	---	---	---						-	6497278	CAGT	-	6497275	7	5	335	1	0	1	0	1	0	0	0	0	17030	594	21	0	1724	0	UHRF2	9	6497275	Frame_Shift_Del	DEL	CAGT	TCGA-HW-7490-01A-11D-2024-08	484174	6497275	134716156	31	30937											
FAM78A	286336	broad.mit.edu	37	9	134136482	134136482	+	Silent	SNP	C	C	T			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr9:134136482C>T	ENST00000372271.3	-	2	946	c.579G>A	c.(577-579)ctG>ctA	p.L193L	FAM78A_ENST00000372269.3_Silent_p.L190L|FAM78A_ENST00000247295.4_5'UTR	NM_033387.3	NP_203745.2	Q5JUQ0	FA78A_HUMAN	family with sequence similarity 78, member A	193										NS(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.15e-05)|Epithelial(140;0.000267)		TGGTGGCCACCAGCCAGGTGG	0.617													27	44					0	0	0.00127121	0	0	T	134136482	C	T	134136482	2	4	335	1	0	0	0	0	0	0	0	1	5658	581	21	2		2	FAM78A	9	134136482	Silent	SNP	C	TCGA-HW-7490-01A-11D-2024-08	127639207	134136482	7076949	32	30938											
NELL1	4745	broad.mit.edu	37	11	21135210	21135210	+	Missense_Mutation	SNP	G	G	A			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr11:21135210G>A	ENST00000298925.5	+	14	1613	c.1460G>A	c.(1459-1461)cGc>cAc	p.R487H	NELL1_ENST00000325319.5_Missense_Mutation_p.R402H|NELL1_ENST00000532434.1_Missense_Mutation_p.R459H|NELL1_ENST00000357134.5_Missense_Mutation_p.R459H			Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	459	EGF-like 3.				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity			NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						GGGTTATATCGCTGTGACTGT	0.398													6	99					0	0	0.00116845	0	0	A	21135210	G	A	21135210	3	1	335	1	0	0	0	0	1	0	0	0	10380	1087	38	1	1426	1	NELL1	11	21135210	Missense_Mutation	SNP	G	TCGA-HW-7490-01A-11D-2024-08		21135210	113871306	33	30939											
OR4A15	81328	broad.mit.edu	37	11	55136122	55136122	+	Missense_Mutation	SNP	A	A	T			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr11:55136122A>T	ENST00000314706.3	+	1	763	c.763A>T	c.(763-765)Act>Tct	p.T255S		NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A, member 15	255					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						CTCTCTTAAGACTCAGAGTTT	0.438													62	74					0	0	0.00361006	0	0	T	55136122	A	T	55136122	3	4	335	1	0	0	0	0	1	0	0	0	11088	275	10	5	765	5	OR4A15	11	55136122	Missense_Mutation	SNP	A	TCGA-HW-7490-01A-11D-2024-08	34000912	55136122	79870394	34	30940											
OR5D16	390144	broad.mit.edu	37	11	55606760	55606760	+	Missense_Mutation	SNP	A	A	G			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr11:55606760A>G	ENST00000378396.1	+	1	533	c.533A>G	c.(532-534)cAt>cGt	p.H178R		NM_001005496.1	NP_001005496.1	Q8NGK9	OR5DG_HUMAN	olfactory receptor, family 5, subfamily D, member 16	178					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_epithelial(135;0.208)				ACAATCAATCATTTCTTCTGT	0.423													5	52					0	0	0.000602214	0	0	G	55606760	A	G	55606760	3	3	335	1	0	0	0	0	1	0	0	0	11203	217	8	3	535	3	OR5D16	11	55606760	Missense_Mutation	SNP	A	TCGA-HW-7490-01A-11D-2024-08	470638	55606760	79399756	35	30941											
NPAS4	266743	broad.mit.edu	37	11	66192121	66192121	+	Missense_Mutation	SNP	C	C	T	rs142965018	byFrequency	TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr11:66192121C>T	ENST00000311034.2	+	7	1936	c.1760C>T	c.(1759-1761)aCg>aTg	p.T587M		NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	587					transcription, DNA-dependent		DNA binding|signal transducer activity			breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						GGGGACTGCACGCTCTTGGCC	0.607													15	173					0	0	0.00316338	0	0	T	66192121	C	T	66192121	3	4	335	1	0	0	0	0	1	0	0	0	10612	536	19	1	1786	1	NPAS4	11	66192121	Missense_Mutation	SNP	C	TCGA-HW-7490-01A-11D-2024-08	10585361	66192121	68814395	36	30942											
MMP1	4312	broad.mit.edu	37	11	102666337	102666337	+	Splice_Site	SNP	C	C	T			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr11:102666337C>T	ENST00000315274.6	-	5	694	c.627G>A	c.(625-627)gaG>gaA	p.E209E	WTAPP1_ENST00000525739.2_RNA	NM_001145938.1|NM_002421.3	NP_001139410.1|NP_002412.1	P03956	MMP1_HUMAN	matrix metallopeptidase 1 (interstitial collagenase)	209	Metalloprotease.				blood coagulation|collagen catabolic process|interspecies interaction between organisms|leukocyte migration|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(1)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	30	all_epithelial(12;0.0127)	all_neural(303;0.000318)|all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.072)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.233)	OV - Ovarian serous cystadenocarcinoma(223;1.82e-07)|Epithelial(105;1.51e-06)|BRCA - Breast invasive adenocarcinoma(274;0.014)		GTAAGTTGTACTCTAAAAAGG	0.368													11	29					0	0	0.000673444	0	0	T	102666337	C	T	102666337	5	4	335	1	0	0	0	0	0	0	1	0	9696	579	20	2	806	2	MMP1	11	102666337	Splice_Site	SNP	C	TCGA-HW-7490-01A-11D-2024-08	36474216	102666337	32340179	37	30943											
ZNF259	8882	broad.mit.edu	37	11	116656309	116656309	+	Missense_Mutation	SNP	T	T	C			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr11:116656309T>C	ENST00000227322.3	-	6	685	c.626A>G	c.(625-627)cAt>cGt	p.H209R		NM_003904.3	NP_003895.1	O75312	ZPR1_HUMAN	zinc finger protein 259	209					cell proliferation|signal transduction	cytoplasm|nucleolus				breast(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	9	all_hematologic(175;0.0487)	all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.61e-06)|all cancers(92;0.000139)|OV - Ovarian serous cystadenocarcinoma(223;0.153)		CTGAGGAGCATGTGGGTTTTC	0.458													6	97					0	0	0.00116845	0	0	C	116656309	T	C	116656309	3	2	335	1	0	0	0	0	1	0	0	0	17859	1464	51	3	789	3	ZNF259	11	116656309	Missense_Mutation	SNP	T	TCGA-HW-7490-01A-11D-2024-08	13989972	116656309	18350207	38	30944											
GRIN2B	2904	broad.mit.edu	37	12	13716801	13716801	+	Missense_Mutation	SNP	C	C	T			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr12:13716801C>T	ENST00000609686.1	-	13	3580	c.3371G>A	c.(3370-3372)aGg>aAg	p.R1124K		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B						response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TTCCTTGTCCCTGAAGTAGCG	0.617													20	25					0	0	0.00152264	0	0	T	13716801	C	T	13716801	3	4	335	1	0	0	0	0	1	0	0	0	6821	681	24	2	1087	2	GRIN2B	12	13716801	Missense_Mutation	SNP	C	TCGA-HW-7490-01A-11D-2024-08		13716801	120135094	39	30945											
KRT84	3890	broad.mit.edu	37	12	52777394	52777394	+	Silent	SNP	G	G	A			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr12:52777394G>A	ENST00000257951.3	-	2	801	c.735C>T	c.(733-735)gtC>gtT	p.V245V	RP3-416H24.4_ENST00000547174.1_RNA	NM_033045.3	NP_149034.2	Q9NSB2	KRT84_HUMAN	keratin 84	245	Coil 1B.|Rod.					keratin filament	structural constituent of epidermis			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(10)|skin(3)	27	all_hematologic(5;0.12)			BRCA - Breast invasive adenocarcinoma(357;0.189)		AGCCCTCTAGGACATCCTGCA	0.577													15	17					0	0	0.00074312	0	0	A	52777394	G	A	52777394	2	1	335	1	0	0	0	0	0	0	0	1	8541	1161	41	2		2	KRT84	12	52777394	Silent	SNP	G	TCGA-HW-7490-01A-11D-2024-08	39060593	52777394	81074501	40	30946											
ACAD10	80724	broad.mit.edu	37	12	112193513	112193513	+	Missense_Mutation	SNP	G	G	A			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr12:112193513G>A	ENST00000546840.2	+	2	68	c.68G>A	c.(67-69)cGt>cAt	p.R23H	ACAD10_ENST00000455480.2_Silent_p.P1032P|ACAD10_ENST00000313698.4_Silent_p.P1001P																							TGGTCGCCCCGTCCATGGCCT	0.517													16	112					0	0	0.00074312	0	0	A	112193513	G	A	112193513	3	1	335	1	0	0	0	0	1	0	0	0	108	1132	40	1	3174	1	ACAD10	12	112193513	Missense_Mutation	SNP	G	TCGA-HW-7490-01A-11D-2024-08	59416119	112193513	21658382	41	30947											
FRY	10129	broad.mit.edu	37	13	32852686	32852686	+	Splice_Site	SNP	G	G	C			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr13:32852686G>C	ENST00000380250.3	+	58	8965		c.e58+1		FRY_ENST00000542859.1_Splice_Site	NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)						regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		CGAAGAAAAGGTAATAAAAGC	0.443													16	95					0	0	0.000566183	0	0	C	32852686	G	C	32852686	5	2	335	1	0	0	0	0	0	0	1	0	6098	1275	44	5	8700	5	FRY	13	32852686	Splice_Site	SNP	G	TCGA-HW-7490-01A-11D-2024-08		32852686	82317192	42	30948											
GPX2	2877	broad.mit.edu	37	14	65406296	65406296	+	Silent	SNP	C	C	T	rs17885748		TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr14:65406296C>T	ENST00000389614.5	-	2	569	c.483G>A	c.(481-483)ccG>ccA	p.P161P	FNTB_ENST00000542227.1_Intron|FNTB_ENST00000447296.2_Intron|CHURC1-FNTB_ENST00000549987.1_Intron	NM_002083.3	NP_002074.2	P18283	GPX2_HUMAN	glutathione peroxidase 2 (gastrointestinal)	161					response to oxidative stress	cytoplasm	electron carrier activity|glutathione peroxidase activity			large_intestine(2)|ovary(1)|skin(1)	4				all cancers(60;0.00117)|OV - Ovarian serous cystadenocarcinoma(108;0.00557)|BRCA - Breast invasive adenocarcinoma(234;0.00971)	Glutathione(DB00143)	GCTCTCCCTCCGGCCCTATGA	0.537													22	103					0	0	0.00229938	0	0	T	65406296	C	T	65406296	2	4	335	1	0	0	0	0	0	0	0	1	6781	639	23	1		1	GPX2	14	65406296	Silent	SNP	C	TCGA-HW-7490-01A-11D-2024-08		65406296	41943244	43	30949											
RAB27A	5873	broad.mit.edu	37	15	55497820	55497820	+	Missense_Mutation	SNP	C	C	T	rs141362723	by1000genomes	TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr15:55497820C>T	ENST00000396307.2	-	6	802	c.551G>A	c.(550-552)cGa>cAa	p.R184Q	RAB27A_ENST00000569493.1_Missense_Mutation_p.R184Q|RAB27A_ENST00000564609.1_Missense_Mutation_p.R184Q|RAB27A_ENST00000336787.1_Missense_Mutation_p.R184Q	NM_004580.4	NP_004571.2	P51159	RB27A_HUMAN	RAB27A, member RAS oncogene family	184					small GTPase mediated signal transduction	dendrite|exocytic vesicle|late endosome|lysosome|melanosome	GTP binding|GTPase activity			endometrium(1)|large_intestine(2)|liver(1)|lung(3)|ovary(1)|skin(1)	9				all cancers(107;0.0273)|GBM - Glioblastoma multiforme(80;0.0993)		CCGTTCCATTCGCTTCATTAT	0.463													63	77					0	0	0.00361006	0	0	T	55497820	C	T	55497820	3	4	335	1	0	0	0	0	1	0	0	0	12966	884	31	1	118	1	RAB27A	15	55497820	Missense_Mutation	SNP	C	TCGA-HW-7490-01A-11D-2024-08		55497820	47033572	44	30950											
BTBD1	53339	broad.mit.edu	37	15	83718894	83718895	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr15:83718894_83718895delAA	ENST00000261721.4	-	3	796_797	c.594_595delTT	c.(592-597)ctttgtfs	p.C199fs	RP11-382A20.7_ENST00000570202.1_RNA|BTBD1_ENST00000379403.2_Frame_Shift_Del_p.C199fs|RP11-382A20.6_ENST00000568441.1_RNA|RP11-382A20.5_ENST00000566841.1_RNA	NM_001011885.1|NM_025238.3	NP_001011885.1|NP_079514.1	Q9H0C5	BTBD1_HUMAN	BTB (POZ) domain containing 1	199						cytoplasmic mRNA processing body|protein complex	protein binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)	10				all cancers(203;0.000186)		GTATCTAGACAAAGACTAGCAA	0.312													9	51	---	---	---	---						-	83718895	AA	-	83718894	7	5	335	1	0	1	0	1	0	0	0	0	1539	130	5	0	877	0	BTBD1	15	83718894	Frame_Shift_Del	DEL	AA	TCGA-HW-7490-01A-11D-2024-08	28221074	83718894	18812498	45	30951											
HSDL1	83693	broad.mit.edu	37	16	84163854	84163854	+	Missense_Mutation	SNP	G	G	A			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr16:84163854G>A	ENST00000219439.4	-	4	579	c.403C>T	c.(403-405)Cca>Tca	p.P135S	HSDL1_ENST00000434463.3_Intron	NM_001146051.1|NM_031463.4	NP_001139523.1|NP_113651.4	Q3SXM5	HSDL1_HUMAN	hydroxysteroid dehydrogenase like 1	135						mitochondrion	oxidoreductase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7						TCTCGAATTGGAAGGTAGATC	0.473													16	141					0	0	0.00400662	0	0	A	84163854	G	A	84163854	3	1	335	1	0	0	0	0	1	0	0	0	7434	1174	41	2	601	2	HSDL1	16	84163854	Missense_Mutation	SNP	G	TCGA-HW-7490-01A-11D-2024-08		84163854	6190899	46	30952											
APRT	353	broad.mit.edu	37	16	88876924	88876924	+	Silent	SNP	G	G	A			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr16:88876924G>A	ENST00000378364.3	-	3	272	c.228C>T	c.(226-228)gcC>gcT	p.A76A	APRT_ENST00000563655.1_Intron|APRT_ENST00000426324.2_Silent_p.A76A	NM_000485.2	NP_000476.1	P07741	APT_HUMAN	adenine phosphoribosyltransferase	76					purine ribonucleoside salvage	cytosol|nucleus	adenine phosphoribosyltransferase activity|AMP binding|protein binding			cervix(1)|endometrium(1)|liver(1)	3				BRCA - Breast invasive adenocarcinoma(80;0.0477)	Adenine(DB00173)|Adenosine monophosphate(DB00131)	CAAGCTCCTGGGCCAGGGAGG	0.637													3	22					0	0	6.4e-05	0	0	A	88876924	G	A	88876924	2	1	335	1	0	0	0	0	0	0	0	1	816	1219	43	2		2	APRT	16	88876924	Silent	SNP	G	TCGA-HW-7490-01A-11D-2024-08	4713070	88876924	1477829	47	30953											
PHF23	79142	broad.mit.edu	37	17	7139547	7139547	+	Silent	SNP	T	T	C			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr17:7139547T>C	ENST00000320316.3	-	4	925	c.699A>G	c.(697-699)ccA>ccG	p.P233P	PHF23_ENST00000571362.1_Silent_p.P166P|PHF23_ENST00000454255.2_Silent_p.P229P|PHF23_ENST00000576955.1_Silent_p.P103P	NM_001284518.1|NM_024297.2	NP_001271447.1|NP_077273.2	Q9BUL5	PHF23_HUMAN	PHD finger protein 23	233							zinc ion binding			breast(4)|kidney(2)|large_intestine(6)|lung(3)	15						GCCCAGGAGGTGGGAGTCTAT	0.552													39	76					0	0	0.0025221	0	0	C	7139547	T	C	7139547	2	2	335	1	0	0	0	0	0	0	0	1	11883	1683	59	3		3	PHF23	17	7139547	Silent	SNP	T	TCGA-HW-7490-01A-11D-2024-08		7139547	74055663	48	30954											
TP53	7157	broad.mit.edu	37	17	7577120	7577120	+	Missense_Mutation	SNP	C	C	T	rs28934576	by1000genomes	TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr17:7577120C>T	ENST00000420246.2	-	8	950	c.818G>A	c.(817-819)cGt>cAt	p.R273H	TP53_ENST00000445888.2_Missense_Mutation_p.R273H|TP53_ENST00000269305.4_Missense_Mutation_p.R273H|TP53_ENST00000455263.2_Missense_Mutation_p.R273H|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.R273H	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	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).		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.R273H(521)|p.R273L(93)|p.R273P(32)|p.0?(8)|p.?(2)|p.R273fs*32(2)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273S(1)|p.E258fs*71(1)|p.R273fs*72(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.R273fs*33(1)|p.E271_R273delEVR(1)|p.V272_K292del21(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	0.542	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)			27	3					0	0	0.00127121	0	0	T	7577120	C	T	7577120	3	4	335	1	0	0	0	0	1	0	0	0	16442	536	19	1	468	1	TP53	17	7577120	Missense_Mutation	SNP	C	TCGA-HW-7490-01A-11D-2024-08	437573	7577120	73618090	49	30955											
MYO18A	399687	broad.mit.edu	37	17	27430667	27430667	+	Missense_Mutation	SNP	G	G	C			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr17:27430667G>C	ENST00000527372.1	-	21	3637	c.3457C>G	c.(3457-3459)Ctg>Gtg	p.L1153V	MYO18A_ENST00000354329.4_Missense_Mutation_p.L1153V|MYO18A_ENST00000531253.1_Missense_Mutation_p.L1153V|MYO18A_ENST00000533112.1_Missense_Mutation_p.L1153V	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	1153	Myosin head-like.				anti-apoptosis|DNA metabolic process	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity			NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			AAGCACTCCAGCAGCTCCTCC	0.667													3	44					0	0	6.4e-05	0	0	C	27430667	G	C	27430667	3	2	335	1	0	0	0	0	1	0	0	0	10113	962	34	4	2795	4	MYO18A	17	27430667	Missense_Mutation	SNP	G	TCGA-HW-7490-01A-11D-2024-08	19853547	27430667	53764543	50	30956											
KIF2B	84643	broad.mit.edu	37	17	51900882	51900882	+	Missense_Mutation	SNP	G	G	A			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr17:51900882G>A	ENST00000268919.4	+	1	644	c.488G>A	c.(487-489)cGc>cAc	p.R163H		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	163					blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						CGGGAAAAGCGCAGGCGGCTG	0.547													8	85					0	0	0.000442599	0	0	A	51900882	G	A	51900882	3	1	335	1	0	0	0	0	1	0	0	0	8340	1087	38	1	490	1	KIF2B	17	51900882	Missense_Mutation	SNP	G	TCGA-HW-7490-01A-11D-2024-08	24470215	51900882	29294328	51	30957											
AKAP8	10270	broad.mit.edu	37	19	15471767	15471769	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr19:15471767_15471769delGAA	ENST00000269701.2	-	12	1477_1479	c.1417_1419delTTC	c.(1417-1419)ttcdel	p.F473del		NM_005858.3	NP_005849.1	O43823	AKAP8_HUMAN	A kinase (PRKA) anchor protein 8	473					signal transduction	nuclear matrix				breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)	26						CGATCTTCTTGAAGAAGTGCTCC	0.571													10	21	---	---	---	---						-	15471769	GAA	-	15471767	7	5	335	1	0	1	0	1	0	0	0	0	454	1281	45	0	671	0	AKAP8	19	15471767	In_Frame_Del	DEL	GAA	TCGA-HW-7490-01A-11D-2024-08		15471767	43657216	52	30958											
CEACAM4	1089	broad.mit.edu	37	19	42128032	42128032	+	Missense_Mutation	SNP	C	C	A			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr19:42128032C>A	ENST00000221954.2	-	3	644	c.534G>T	c.(532-534)agG>agT	p.R178S	CEACAM4_ENST00000600925.1_Missense_Mutation_p.R178S	NM_001817.2	NP_001808.2	O75871	CEAM4_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 4	178						integral to plasma membrane|membrane fraction				NS(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(3)|skin(3)|urinary_tract(1)	16						ACCTTCCAGTCCTGGAGAGAA	0.652													7	27					0.00307968	0.0090969	0.00307968	1	0	A	42128032	C	A	42128032	3	1	335	1	0	0	0	0	1	0	0	0	3216	854	30	5	220	5	CEACAM4	19	42128032	Missense_Mutation	SNP	C	TCGA-HW-7490-01A-11D-2024-08	26656265	42128032	17000951	53	30959											
LENG9	94059	broad.mit.edu	37	19	54973460	54973461	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr19:54973460_54973461delTG	ENST00000333834.4	-	1	1433_1434	c.1315_1316delCA	c.(1315-1317)cagfs	p.Q439fs		NM_198988.1	NP_945339.2	Q96B70	LENG9_HUMAN	leukocyte receptor cluster (LRC) member 9	439					RNA metabolic process	intracellular	catalytic activity|nucleic acid binding|zinc ion binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)	11	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.134)		CCCTGGAGACTGTAGTGTACTC	0.644													44	54	---	---	---	---						-	54973461	TG	-	54973460	7	5	335	1	0	1	0	1	0	0	0	0	8764	1580	55	0	193	0	LENG9	19	54973460	Frame_Shift_Del	DEL	TG	TCGA-HW-7490-01A-11D-2024-08	12845428	54973460	4155523	54	30960											
EPB41L1	2036	broad.mit.edu	37	20	34761743	34761745	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr20:34761743_34761745delAGG	ENST00000338074.2	+	2	205_207	c.44_46delAGG	c.(43-48)caggag>cag	p.E17del	EPB41L1_ENST00000373941.1_In_Frame_Del_p.E17del|EPB41L1_ENST00000373950.2_Intron|EPB41L1_ENST00000373946.3_Intron|EPB41L1_ENST00000202028.5_Intron|EPB41L1_ENST00000441639.1_Intron	NM_001258329.1|NM_012156.2	NP_001245258.1|NP_036288.2	Q9H4G0	E41L1_HUMAN	erythrocyte membrane protein band 4.1-like 1	17					cortical actin cytoskeleton organization|synaptic transmission	cytoskeleton|cytosol|extrinsic to membrane|plasma membrane	actin binding|structural molecule activity			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37	Breast(12;0.0239)					AAGAAAGCTCAGGAGGAGGCCCC	0.626													7	38	---	---	---	---						-	34761745	AGG	-	34761743	7	5	335	1	0	1	0	1	0	0	0	0	5180	188	7	0	46	0	EPB41L1	20	34761743	In_Frame_Del	DEL	AGG	TCGA-HW-7490-01A-11D-2024-08		34761743	28263777	55	30961											
USP9X	8239	broad.mit.edu	37	X	41088882	41088884	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chrX:41088882_41088884delAAG	ENST00000324545.8	+	43	7914_7916	c.7281_7283delAAG	c.(7279-7284)gaaaga>gaa	p.R2429del	USP9X_ENST00000378308.2_In_Frame_Del_p.R2429del	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked						BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						ATGAACTTGAAAGAAGACCATAT	0.404													15	35	---	---	---	---						-	41088884	AAG	-	41088882	7	5	335	1	0	1	0	1	0	0	0	0	17150	11	1	0	7447	0	USP9X	23	41088882	In_Frame_Del	DEL	AAG	TCGA-HW-7490-01A-11D-2024-08		41088882	114181678	56	30962											
ATRX	546	broad.mit.edu	37	X	76918976	76918977	+	Frame_Shift_Del	DEL	TA	TA	-			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chrX:76918976_76918977delTA	ENST00000373344.5	-	12	4228_4229	c.4014_4015delTA	c.(4012-4017)cataggfs	p.HR1338fs	ATRX_ENST00000395603.3_Frame_Shift_Del_p.HR1300fs|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1338					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)	CGCAAAAGCCTATGTCTGTATC	0.356			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						21	5	---	---	---	---						-	76918977	TA	-	76918976	7	5	335	1	0	1	0	1	0	0	0	0	1206	1521	53	0	3559	0	ATRX	23	76918976	Frame_Shift_Del	DEL	TA	TCGA-HW-7490-01A-11D-2024-08	35830094	76918976	78351584	57	30963											
LAMP2	3920	broad.mit.edu	37	X	119573053	119573053	+	Missense_Mutation	SNP	C	C	T			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chrX:119573053C>T	ENST00000371335.4	-	9	1325	c.1189G>A	c.(1189-1191)Gta>Ata	p.V397I	LAMP2_ENST00000200639.4_Intron|LAMP2_ENST00000538785.1_Intron|LAMP2_ENST00000540603.1_Missense_Mutation_p.V350I|LAMP2_ENST00000434600.2_Intron	NM_013995.2	NP_054701.1	P13473	LAMP2_HUMAN	lysosomal-associated membrane protein 2	397					platelet activation|platelet degranulation	endosome membrane|integral to membrane|late endosome|lysosomal membrane|membrane fraction|plasma membrane|platelet dense granule membrane		p.V397I(1)		endometrium(4)|large_intestine(2)|lung(5)|ovary(2)|urinary_tract(2)	15						CTGCCAATTACGTAAGCAATC	0.383													5	57					0	0	0.000602214	0	0	T	119573053	C	T	119573053	3	4	335	1	0	0	0	0	1	0	0	0	8657	536	19	1	338	1	LAMP2	23	119573053	Missense_Mutation	SNP	C	TCGA-HW-7490-01A-11D-2024-08	42654077	119573053	35697507	58	30964											
FRMD7	90167	broad.mit.edu	37	X	131214037	131214037	+	Silent	SNP	T	T	C			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chrX:131214037T>C	ENST00000298542.4	-	11	1222	c.1047A>G	c.(1045-1047)aaA>aaG	p.K349K	FRMD7_ENST00000370879.1_Silent_p.K229K|FRMD7_ENST00000464296.1_Silent_p.K334K	NM_194277.2	NP_919253.1	Q6ZUT3	FRMD7_HUMAN	FERM domain containing 7	349					regulation of neuron projection development	cytoskeleton|growth cone|neuronal cell body	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Acute lymphoblastic leukemia(192;0.000127)					ACCTTACTTGTTTTGACACAT	0.398													78	27					0	0	0.00361006	0	0	C	131214037	T	C	131214037	2	2	335	1	0	0	0	0	0	0	0	1	6090	1722	60	3		3	FRMD7	23	131214037	Silent	SNP	T	TCGA-HW-7490-01A-11D-2024-08	11640984	131214037	24056523	59	30965											
RPS4Y2	140032	broad.mit.edu	37	Y	22930744	22930744	+	Missense_Mutation	SNP	C	C	A			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chrY:22930744C>A	ENST00000288666.5	+	5	414	c.414C>A	c.(412-414)caC>caA	p.H138Q		NM_001039567.2	NP_001034656.1	Q8TD47	RS4Y2_HUMAN	ribosomal protein S4, Y-linked 2	138					translation	ribosome	rRNA binding|structural constituent of ribosome			lung(2)	2						GAATTCCACACCTGGTGACTC	0.438													22	25					2.89027e-11	8.80844e-11	0.00229938	1	0	A	22930744	C	A	22930744	3	1	335	1	0	0	0	0	1	0	0	0	13699	506	18	5	432	5	RPS4Y2	24	22930744	Missense_Mutation	SNP	C	TCGA-HW-7490-01A-11D-2024-08		22930744	36442822	60	30966											
PADI6	353238	broad.mit.edu	37	1	17723476	17723477	+	RNA	INS	-	-	CA	rs67024576	by1000genomes	TCGA-HW-7491-01A-11D-2024-08	TCGA-HW-7491-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c29c663-c1ec-468e-9e86-74a2b70da59e	0ba3d269-712a-4990-a51b-7288d4f2adbb	g.chr1:17723476_17723477insCA	ENST00000434762.2	+	0	1669							Q6TGC4	PADI6_HUMAN	peptidyl arginine deiminase, type VI						peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	AGGAATGCACCCAGGTGGCTGG	0.629													5	1	---	---	---	---						CA	17723477	-	CA	17723476	6	5	336	0	1	1	1	0	0	0	0	0	11428	638	22	0		0	PADI6	1	17723476	RNA	INS	-	TCGA-HW-7491-01A-11D-2024-08		17723476	231527145	1	30967											
PSMD4	5710	broad.mit.edu	37	1	151237660	151237660	+	Missense_Mutation	SNP	C	C	T			TCGA-HW-7491-01A-11D-2024-08	TCGA-HW-7491-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c29c663-c1ec-468e-9e86-74a2b70da59e	0ba3d269-712a-4990-a51b-7288d4f2adbb	g.chr1:151237660C>T	ENST00000368884.3	+	5	468	c.388C>T	c.(388-390)Cgc>Tgc	p.R130C	PSMD4_ENST00000368881.4_Missense_Mutation_p.R130C	NM_002810.2	NP_002801.1	P55036	PSMD4_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 4	130	VWFA.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|viral reproduction	proteasome complex	protein binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|lung(7)	11	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			ACTGGCTAAACGCCTCAAGAA	0.443													4	19					0	0	1	0	0	T	151237660	C	T	151237660	3	4	336	1	0	0	0	0	1	0	0	0	12749	536	19	1	406	1	PSMD4	1	151237660	Missense_Mutation	SNP	C	TCGA-HW-7491-01A-11D-2024-08	133514184	151237660	98012961	2	30968											
TTC7A	57217	broad.mit.edu	37	2	47220609	47220609	+	Missense_Mutation	SNP	G	G	A			TCGA-HW-7491-01A-11D-2024-08	TCGA-HW-7491-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c29c663-c1ec-468e-9e86-74a2b70da59e	0ba3d269-712a-4990-a51b-7288d4f2adbb	g.chr2:47220609G>A	ENST00000319190.5	+	6	1153	c.785G>A	c.(784-786)aGa>aAa	p.R262K	TTC7A_ENST00000263737.6_5'UTR|TTC7A_ENST00000409245.1_Missense_Mutation_p.R228K|TTC7A_ENST00000394850.2_Missense_Mutation_p.R262K|TTC7A_ENST00000461601.1_3'UTR	NM_020458.2	NP_065191.2	Q9ULT0	TTC7A_HUMAN	tetratricopeptide repeat domain 7A	262							binding			breast(4)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)			AAGGGCATGAGAGAGCTCCGG	0.547													46	47					0	0	1	0	0	A	47220609	G	A	47220609	3	1	336	1	0	0	0	0	1	0	0	0	16774	942	33	2	807	2	TTC7A	2	47220609	Missense_Mutation	SNP	G	TCGA-HW-7491-01A-11D-2024-08		47220609	195978764	3	30969											
AGPS	8540	broad.mit.edu	37	2	178386040	178386040	+	Missense_Mutation	SNP	T	T	G			TCGA-HW-7491-01A-11D-2024-08	TCGA-HW-7491-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c29c663-c1ec-468e-9e86-74a2b70da59e	0ba3d269-712a-4990-a51b-7288d4f2adbb	g.chr2:178386040T>G	ENST00000264167.4	+	18	1887	c.1741T>G	c.(1741-1743)Ttt>Gtt	p.F581V	AGPS_ENST00000409888.1_Intron	NM_003659.3	NP_003650.1	O00116	ADAS_HUMAN	alkylglycerone phosphate synthase	581					ether lipid biosynthetic process	peroxisomal matrix|peroxisomal membrane|plasma membrane	alkylglycerone-phosphate synthase activity|flavin adenine dinucleotide binding|oxidoreductase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0018)|Epithelial(96;0.00919)|all cancers(119;0.0358)			CTACTTCTATTTTGCCTTTAA	0.383													33	67					0	0	1	0	0	G	178386040	T	G	178386040	3	3	336	1	0	0	0	0	1	0	0	0	391	1841	64	5	1811	5	AGPS	2	178386040	Missense_Mutation	SNP	T	TCGA-HW-7491-01A-11D-2024-08	131165431	178386040	64813333	4	30970											
SCN10A	6336	broad.mit.edu	37	3	38739794	38739794	+	Silent	SNP	G	G	A	rs142804903		TCGA-HW-7491-01A-11D-2024-08	TCGA-HW-7491-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c29c663-c1ec-468e-9e86-74a2b70da59e	0ba3d269-712a-4990-a51b-7288d4f2adbb	g.chr3:38739794G>A	ENST00000449082.2	-	27	4916	c.4917C>T	c.(4915-4917)gaC>gaT	p.D1639D		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1639					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	TGAACATGTCGTCGATGCCAG	0.547													71	69					0	0	1	0	0	A	38739794	G	A	38739794	2	1	336	1	0	0	0	0	0	0	0	1	13966	1136	40	1		1	SCN10A	3	38739794	Silent	SNP	G	TCGA-HW-7491-01A-11D-2024-08		38739794	159282636	5	30971											
PIK3CA	5290	broad.mit.edu	37	3	178916938	178916940	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-HW-7491-01A-11D-2024-08	TCGA-HW-7491-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c29c663-c1ec-468e-9e86-74a2b70da59e	0ba3d269-712a-4990-a51b-7288d4f2adbb	g.chr3:178916938_178916940delGAA	ENST00000263967.3	+	2	482_484	c.325_327delGAA	c.(325-327)gaadel	p.E110del		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	110					epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E109del(3)|p.G106_R108del(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			AGGCAACCGTGAAGAAAAGATCC	0.34		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			44	54	---	---	---	---						-	178916940	GAA	-	178916938	7	5	336	1	0	1	0	1	0	0	0	0	11961	1291	45	0	327	0	PIK3CA	3	178916938	In_Frame_Del	DEL	GAA	TCGA-HW-7491-01A-11D-2024-08	140177144	178916938	19105492	6	30972											
TINAG	27283	broad.mit.edu	37	6	54191662	54191662	+	Missense_Mutation	SNP	G	G	A			TCGA-HW-7491-01A-11D-2024-08	TCGA-HW-7491-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c29c663-c1ec-468e-9e86-74a2b70da59e	0ba3d269-712a-4990-a51b-7288d4f2adbb	g.chr6:54191662G>A	ENST00000259782.4	+	4	668	c.572G>A	c.(571-573)cGc>cAc	p.R191H	TINAG_ENST00000370869.3_Missense_Mutation_p.R187H|TINAG_ENST00000370864.3_Missense_Mutation_p.R173H	NM_014464.3	NP_055279.3	Q9UJW2	TINAG_HUMAN	tubulointerstitial nephritis antigen	191					cell adhesion|immune response|Malpighian tubule morphogenesis|proteolysis	basement membrane	cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity	p.R191H(1)|p.R191L(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34	Lung NSC(77;0.0518)		LUSC - Lung squamous cell carcinoma(124;0.246)			TTTAAATTTCGCCTTGGCACT	0.373													30	54					0	0	1	0	0	A	54191662	G	A	54191662	3	1	336	1	0	0	0	0	1	0	0	0	15981	1087	38	1	586	1	TINAG	6	54191662	Missense_Mutation	SNP	G	TCGA-HW-7491-01A-11D-2024-08		54191662	116923405	7	30973											
LAMB4	22798	broad.mit.edu	37	7	107748127	107748127	+	Missense_Mutation	SNP	G	G	T			TCGA-HW-7491-01A-11D-2024-08	TCGA-HW-7491-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c29c663-c1ec-468e-9e86-74a2b70da59e	0ba3d269-712a-4990-a51b-7288d4f2adbb	g.chr7:107748127G>T	ENST00000388781.3	-	6	623	c.540C>A	c.(538-540)gaC>gaA	p.D180E	LAMB4_ENST00000418464.1_Missense_Mutation_p.D180E|LAMB4_ENST00000414450.2_Missense_Mutation_p.D180E|LAMB4_ENST00000205386.4_Missense_Mutation_p.D180E|LAMB4_ENST00000388780.3_Missense_Mutation_p.D180E	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	180	Laminin N-terminal.				cell adhesion	basement membrane				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						CACAAACAATGTCTCCCACTC	0.398													26	34					3.80469e-20	4.01035e-20	1	1	0	T	107748127	G	T	107748127	3	4	336	1	0	0	0	0	1	0	0	0	8652	1368	48	5	4861	5	LAMB4	7	107748127	Missense_Mutation	SNP	G	TCGA-HW-7491-01A-11D-2024-08		107748127	51390536	8	30974											
SLC37A3	84255	broad.mit.edu	37	7	140058508	140058508	+	Silent	SNP	G	G	A	rs142313913	byFrequency	TCGA-HW-7491-01A-11D-2024-08	TCGA-HW-7491-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c29c663-c1ec-468e-9e86-74a2b70da59e	0ba3d269-712a-4990-a51b-7288d4f2adbb	g.chr7:140058508G>A	ENST00000326232.9	-	6	656	c.453C>T	c.(451-453)aaC>aaT	p.N151N	SLC37A3_ENST00000340308.3_Silent_p.N151N|SLC37A3_ENST00000447932.2_Silent_p.N151N|SLC37A3_ENST00000461089.1_5'UTR|SLC37A3_ENST00000429996.2_Intron	NM_207113.1	NP_996996.1	Q8NCC5	SPX3_HUMAN	solute carrier family 37, member 3	151					carbohydrate transport|transmembrane transport	integral to membrane				endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|stomach(3)	24	Melanoma(164;0.0142)					GCAGCAGGCCGTTCACAATCC	0.512													61	92					0	0	1	0	0	A	140058508	G	A	140058508	2	1	336	1	0	0	0	0	0	0	0	1	14654	1136	40	1		1	SLC37A3	7	140058508	Silent	SNP	G	TCGA-HW-7491-01A-11D-2024-08	32310381	140058508	19080155	9	30975											
VPS13A	23230	broad.mit.edu	37	9	79936584	79936584	+	Missense_Mutation	SNP	G	G	A			TCGA-HW-7491-01A-11D-2024-08	TCGA-HW-7491-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c29c663-c1ec-468e-9e86-74a2b70da59e	0ba3d269-712a-4990-a51b-7288d4f2adbb	g.chr9:79936584G>A	ENST00000360280.3	+	44	6012	c.5752G>A	c.(5752-5754)Gat>Aat	p.D1918N	VPS13A_ENST00000357409.5_Missense_Mutation_p.D1918N|VPS13A_ENST00000376634.4_Missense_Mutation_p.D1918N|VPS13A_ENST00000376636.3_Missense_Mutation_p.D1879N	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	1918					Golgi to endosome transport|protein transport	intracellular	protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						TTTAAGTATGGATTATATCCG	0.338													24	35					0	0	1	0	0	A	79936584	G	A	79936584	3	1	336	1	0	0	0	0	1	0	0	0	17249	1174	41	2	5926	2	VPS13A	9	79936584	Missense_Mutation	SNP	G	TCGA-HW-7491-01A-11D-2024-08		79936584	61276847	10	30976											
NR4A3	8013	broad.mit.edu	37	9	102590616	102590618	+	In_Frame_Del	DEL	CAC	CAC	-			TCGA-HW-7491-01A-11D-2024-08	TCGA-HW-7491-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c29c663-c1ec-468e-9e86-74a2b70da59e	0ba3d269-712a-4990-a51b-7288d4f2adbb	g.chr9:102590616_102590618delCAC	ENST00000330847.1	+	2	369_371	c.325_327delCAC	c.(325-327)cacdel	p.H119del	NR4A3_ENST00000338488.4_In_Frame_Del_p.H108del|NR4A3_ENST00000395097.2_In_Frame_Del_p.H108del			Q92570	NR4A3_HUMAN	nuclear receptor subfamily 4, group A, member 3	108					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor		steroid hormone receptor activity|thyroid hormone receptor activity|zinc ion binding		TCF12/NR4A3(2)|TAF15/NR4A3(33)|EWSR1/NR4A3(146)|TFG/NR4A3(2)				Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189)				ccatcaccatcaccaccaccacc	0.616			T	EWSR1	extraskeletal myxoid chondrosarcoma								8	58	---	---	---	---						-	102590618	CAC	-	102590616	7	5	336	1	0	1	0	1	0	0	0	0	10682	826	29	0	331	0	NR4A3	9	102590616	In_Frame_Del	DEL	CAC	TCGA-HW-7491-01A-11D-2024-08	22654032	102590616	38622815	11	30977											
OR6Q1	219952	broad.mit.edu	37	11	57799000	57799000	+	Silent	SNP	G	G	A			TCGA-HW-7491-01A-11D-2024-08	TCGA-HW-7491-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c29c663-c1ec-468e-9e86-74a2b70da59e	0ba3d269-712a-4990-a51b-7288d4f2adbb	g.chr11:57799000G>A	ENST00000302622.3	+	1	599	c.576G>A	c.(574-576)tcG>tcA	p.S192S	OR9Q1_ENST00000335397.3_Intron	NM_001005186.2	NP_001005186.2	Q8NGQ2	OR6Q1_HUMAN	olfactory receptor, family 6, subfamily Q, member 1	192					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			biliary_tract(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(21;0.0707)|all_epithelial(135;0.142)				TAGCCTTGTCGTGCTCAGATG	0.498													65	61					0	0	1	0	0	A	57799000	G	A	57799000	2	1	336	1	0	0	0	0	0	0	0	1	11255	1132	40	1		1	OR6Q1	11	57799000	Silent	SNP	G	TCGA-HW-7491-01A-11D-2024-08		57799000	77207516	12	30978											
CRYAB	1410	broad.mit.edu	37	11	111780950	111780950	+	Missense_Mutation	SNP	G	G	T			TCGA-HW-7491-01A-11D-2024-08	TCGA-HW-7491-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c29c663-c1ec-468e-9e86-74a2b70da59e	0ba3d269-712a-4990-a51b-7288d4f2adbb	g.chr11:111780950G>T	ENST00000533971.1	-	2	516	c.425C>A	c.(424-426)cCa>cAa	p.P142Q	CRYAB_ENST00000533280.1_Intron|CRYAB_ENST00000527950.1_Intron|CRYAB_ENST00000227251.3_Intron|CRYAB_ENST00000533475.1_Intron|CRYAB_ENST00000531198.1_Intron|CRYAB_ENST00000526180.1_Intron|CRYAB_ENST00000525823.1_Intron			P02511	CRYAB_HUMAN	crystallin, alpha B	0					anti-apoptosis|muscle contraction|negative regulation of intracellular transport|protein folding|protein homooligomerization|response to heat	cytoplasm|nucleus	protein homodimerization activity|structural constituent of eye lens|unfolded protein binding			endometrium(1)|large_intestine(1)|lung(2)|skin(4)	8		all_cancers(61;1.26e-15)|all_epithelial(67;9.52e-10)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;3.57e-07)|BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|all cancers(92;6.57e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.051)		GTTATGGCTTGGGACTGGAAT	0.418													6	16					0.00198382	0.00198382	1	1	0	T	111780950	G	T	111780950	3	4	336	1	0	0	0	0	1	0	0	0	3929	1363	47	5		5	CRYAB	11	111780950	Missense_Mutation	SNP	G	TCGA-HW-7491-01A-11D-2024-08	53981950	111780950	23225566	13	30979											
CMKLR1	1240	broad.mit.edu	37	12	108685742	108685742	+	Missense_Mutation	SNP	C	C	T			TCGA-HW-7491-01A-11D-2024-08	TCGA-HW-7491-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c29c663-c1ec-468e-9e86-74a2b70da59e	0ba3d269-712a-4990-a51b-7288d4f2adbb	g.chr12:108685742C>T	ENST00000312143.7	-	3	1361	c.998G>A	c.(997-999)cGc>cAc	p.R333H	CMKLR1_ENST00000552995.1_Missense_Mutation_p.R331H|CMKLR1_ENST00000550402.1_Missense_Mutation_p.R333H|CMKLR1_ENST00000397688.2_Missense_Mutation_p.R331H|CMKLR1_ENST00000412676.1_Missense_Mutation_p.R333H	NM_001142344.1|NM_004072.2	NP_001135816.1|NP_004063.1	Q99788	CML1_HUMAN	chemokine-like receptor 1	333					chemotaxis|immune response|negative regulation of interleukin-12 production|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage chemotaxis|regulation of calcium-mediated signaling|skeletal system development	integral to plasma membrane	chemokine receptor activity			endometrium(5)|large_intestine(3)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	37						ATTGACCAGGCGAGAGAAGAG	0.483													29	54					0	0	1	0	0	T	108685742	C	T	108685742	3	4	336	1	0	0	0	0	1	0	0	0	3602	768	27	1	127	1	CMKLR1	12	108685742	Missense_Mutation	SNP	C	TCGA-HW-7491-01A-11D-2024-08		108685742	25166153	14	30980											
UTP14C	9724	broad.mit.edu	37	13	52605154	52605154	+	Nonsense_Mutation	SNP	C	C	G	rs141049018	byFrequency	TCGA-HW-7491-01A-11D-2024-08	TCGA-HW-7491-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c29c663-c1ec-468e-9e86-74a2b70da59e	0ba3d269-712a-4990-a51b-7288d4f2adbb	g.chr13:52605154C>G	ENST00000521776.2	+	2	2947	c.2214C>G	c.(2212-2214)taC>taG	p.Y738*		NM_021645.5	NP_067677.4	Q5TAP6	UT14C_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein, homolog C (yeast)	738					cell differentiation|meiosis|multicellular organismal development|rRNA processing|spermatogenesis	nucleolus|small-subunit processome				breast(4)|cervix(1)|endometrium(1)|large_intestine(10)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	32		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.3e-08)		ATGTGGGCTACCAGTCTTCCT	0.483													4	72					0	0	1	0	0	G	52605154	C	G	52605154	4	3	336	1	0	0	0	0	0	1	0	0	17156	518	18	5	2216	5	UTP14C	13	52605154	Nonsense_Mutation	SNP	C	TCGA-HW-7491-01A-11D-2024-08		52605154	62564724	15	30981											
SLITRK6	84189	broad.mit.edu	37	13	86370348	86370348	+	Missense_Mutation	SNP	T	T	C			TCGA-HW-7491-01A-11D-2024-08	TCGA-HW-7491-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c29c663-c1ec-468e-9e86-74a2b70da59e	0ba3d269-712a-4990-a51b-7288d4f2adbb	g.chr13:86370348T>C	ENST00000400286.2	-	2	894	c.296A>G	c.(295-297)aAt>aGt	p.N99S		NM_032229.2	NP_115605.2	Q9H5Y7	SLIK6_HUMAN	SLIT and NTRK-like family, member 6	99						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		ATCTGCAATATTGTTAAATCC	0.353													73	20					0	0	1	0	0	C	86370348	T	C	86370348	3	2	336	1	0	0	0	0	1	0	0	0	14801	1493	52	3	2233	3	SLITRK6	13	86370348	Missense_Mutation	SNP	T	TCGA-HW-7491-01A-11D-2024-08	33765194	86370348	28799530	16	30982											
TRIM9	114088	broad.mit.edu	37	14	51448645	51448645	+	Missense_Mutation	SNP	G	G	C			TCGA-HW-7491-01A-11D-2024-08	TCGA-HW-7491-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c29c663-c1ec-468e-9e86-74a2b70da59e	0ba3d269-712a-4990-a51b-7288d4f2adbb	g.chr14:51448645G>C	ENST00000298355.3	-	8	2901	c.1780C>G	c.(1780-1782)Cct>Gct	p.P594A	TRIM9_ENST00000338969.5_Missense_Mutation_p.P675A	NM_015163.5	NP_055978.4	Q9C026	TRIM9_HUMAN	tripartite motif containing 9	594	B30.2/SPRY.				proteasomal ubiquitin-dependent protein catabolic process	cell junction|cytoskeleton|dendrite|synaptic vesicle	protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_epithelial(31;0.00418)|Breast(41;0.148)					CCAAAGGCAGGATCAGGGTGG	0.517													41	53					0	0	1	0	0	C	51448645	G	C	51448645	3	2	336	1	0	0	0	0	1	0	0	0	16610	1174	41	5	364	5	TRIM9	14	51448645	Missense_Mutation	SNP	G	TCGA-HW-7491-01A-11D-2024-08		51448645	55900895	17	30983											
IDH2	3418	broad.mit.edu	37	15	90631838	90631838	+	Missense_Mutation	SNP	C	C	T	rs121913503		TCGA-HW-7491-01A-11D-2024-08	TCGA-HW-7491-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c29c663-c1ec-468e-9e86-74a2b70da59e	0ba3d269-712a-4990-a51b-7288d4f2adbb	g.chr15:90631838C>T	ENST00000330062.3	-	4	628	c.515G>A	c.(514-516)aGg>aAg	p.R172K	IDH2_ENST00000559482.1_Intron|IDH2_ENST00000540499.2_Missense_Mutation_p.R120K|IDH2_ENST00000539790.1_Missense_Mutation_p.R42K	NM_002168.2	NP_002159.2	P48735	IDHP_HUMAN	isocitrate dehydrogenase 2 (NADP+), mitochondrial	172					2-oxoglutarate metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding	p.R172K(116)|p.R172M(21)|p.R172N(1)		biliary_tract(11)|bone(19)|central_nervous_system(107)|endometrium(1)|haematopoietic_and_lymphoid_tissue(953)|large_intestine(8)|lung(5)|skin(5)	1109	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.106)			ATGGGCGTGCCTGCCAATGGT	0.632			M		GBM								34	30					0	0	1	0	0	T	90631838	C	T	90631838	3	4	336	1	0	0	0	0	1	0	0	0	7539	681	24	2	875	2	IDH2	15	90631838	Missense_Mutation	SNP	C	TCGA-HW-7491-01A-11D-2024-08		90631838	11899554	18	30984											
GLIS2	84662	broad.mit.edu	37	16	4383346	4383346	+	Splice_Site	SNP	A	A	G			TCGA-HW-7491-01A-11D-2024-08	TCGA-HW-7491-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c29c663-c1ec-468e-9e86-74a2b70da59e	0ba3d269-712a-4990-a51b-7288d4f2adbb	g.chr16:4383346A>G	ENST00000262366.3	+	4	993		c.e4-1		GLIS2_ENST00000433375.1_Splice_Site|PAM16_ENST00000577031.1_Intron			Q9BZE0	GLIS2_HUMAN	GLIS family zinc finger 2						cell differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development	cytoplasm|nuclear speck	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|transcription regulatory region DNA binding|zinc ion binding			breast(1)|cervix(4)|endometrium(1)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	11						CCTCTCCCTCAGGCTTCCTGC	0.612													3	40					0	0	1	0	0	G	4383346	A	G	4383346	5	3	336	1	0	0	0	0	0	0	1	0	6488	202	7	3	177	3	GLIS2	16	4383346	Splice_Site	SNP	A	TCGA-HW-7491-01A-11D-2024-08		4383346	85971407	19	30985											
VASN	114990	broad.mit.edu	37	16	4431389	4431391	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-HW-7491-01A-11D-2024-08	TCGA-HW-7491-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c29c663-c1ec-468e-9e86-74a2b70da59e	0ba3d269-712a-4990-a51b-7288d4f2adbb	g.chr16:4431389_4431391delCTG	ENST00000304735.3	+	2	666_668	c.511_513delCTG	c.(511-513)ctgdel	p.L174del	CORO7_ENST00000539968.1_Intron|CORO7-PAM16_ENST00000572467.1_Intron|CORO7_ENST00000574025.1_Intron|CORO7_ENST00000423908.2_Intron|CORO7_ENST00000537233.2_Intron|CORO7_ENST00000251166.4_Intron	NM_138440.2	NP_612449.2	Q6EMK4	VASN_HUMAN	vasorin	174						extracellular region|integral to membrane				breast(1)|lung(3)|prostate(1)|skin(1)	6						CCTGCCCCGCCTGCTGCTGCTGG	0.704													2	4	---	---	---	---						-	4431391	CTG	-	4431389	7	5	336	1	0	1	0	1	0	0	0	0	17187	680	24	0	513	0	VASN	16	4431389	In_Frame_Del	DEL	CTG	TCGA-HW-7491-01A-11D-2024-08	48043	4431389	85923364	20	30986											
SLC12A4	6560	broad.mit.edu	37	16	67986327	67986340	+	Splice_Site	DEL	GTCTGAAACAAGAA	GTCTGAAACAAGAA	-			TCGA-HW-7491-01A-11D-2024-08	TCGA-HW-7491-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c29c663-c1ec-468e-9e86-74a2b70da59e	0ba3d269-712a-4990-a51b-7288d4f2adbb	g.chr16:67986327_67986340delGTCTGAAACAAGAA	ENST00000422611.2	-	6	721_722	c.682_683delTTCTTGTTTCAGAC	c.(682-684)ttc>c	p.F228fs	SLC12A4_ENST00000537830.2_Splice_Site_p.F220fs|SLC12A4_ENST00000576616.1_Splice_Site_p.F226fs|SLC12A4_ENST00000338335.3_Splice_Site_p.F226fs|SLC12A4_ENST00000572010.1_5'UTR|SLC12A4_ENST00000572037.1_Splice_Site_p.F178fs|SLC12A4_ENST00000541864.2_Splice_Site_p.F195fs|SLC12A4_ENST00000316341.3_Splice_Site_p.F226fs	NM_001145962.1	NP_001139434.1	Q9UP95	S12A4_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 4	226					cell volume homeostasis|potassium ion transport|sodium ion transport	integral to plasma membrane|membrane fraction	potassium:chloride symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3)	29		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	GGCAATGTAGGTCTGAAACAAGAAGATGGATAAG	0.449													17	100	---	---	---	---						-	67986340	GTCTGAAACAAGAA	-	67986327	8	5	336	1	0	1	0	1	0	0	1	0	14440	1275	44	0	2652	0	SLC12A4	16	67986327	Splice_Site	DEL	GTCTGAAACAAGAA	TCGA-HW-7491-01A-11D-2024-08	63554938	67986327	22368426	21	30987											
DVL2	1856	broad.mit.edu	37	17	7132713	7132713	+	Silent	SNP	T	T	C			TCGA-HW-7491-01A-11D-2024-08	TCGA-HW-7491-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c29c663-c1ec-468e-9e86-74a2b70da59e	0ba3d269-712a-4990-a51b-7288d4f2adbb	g.chr17:7132713T>C	ENST00000005340.5	-	7	1083	c.801A>G	c.(799-801)acA>acG	p.T267T	DVL2_ENST00000574642.1_5'UTR|DVL2_ENST00000575458.1_Silent_p.T261T	NM_004422.2	NP_004413.1	O14641	DVL2_HUMAN	dishevelled segment polarity protein 2	267	PDZ.				canonical Wnt receptor signaling pathway involved in regulation of cell proliferation|intracellular signal transduction|neural tube closure|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|segment specification|transcription from RNA polymerase II promoter	cytosol|nucleus|plasma membrane	frizzled binding|identical protein binding|signal transducer activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(7)|skin(1)	25						TTAGCGTGACTGTGATGATAT	0.567													37	55					0	0	1	0	0	C	7132713	T	C	7132713	2	2	336	1	0	0	0	0	0	0	0	1	4862	1567	55	3		3	DVL2	17	7132713	Silent	SNP	T	TCGA-HW-7491-01A-11D-2024-08		7132713	74062497	22	30988											
PLCD3	113026	broad.mit.edu	37	17	43198453	43198453	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HW-7491-01A-11D-2024-08	TCGA-HW-7491-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c29c663-c1ec-468e-9e86-74a2b70da59e	0ba3d269-712a-4990-a51b-7288d4f2adbb	g.chr17:43198453delC	ENST00000322765.5	-	3	483	c.370delG	c.(370-372)gagfs	p.E124fs	PLCD3_ENST00000540511.1_5'UTR	NM_133373.3	NP_588614.1	Q8N3E9	PLCD3_HUMAN	phospholipase C, delta 3	124	PH.				intracellular signal transduction|lipid catabolic process	cleavage furrow|cytoplasm|membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(2)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)|stomach(2)|urinary_tract(2)	17					Phosphatidylserine(DB00144)	CGCAGGCCCTCGGACTGGTGG	0.736													2	4	---	---	---	---						-	43198453	C	-	43198453	7	5	336	1	0	1	0	1	0	0	0	0	12080	893	31	0	2050	0	PLCD3	17	43198453	Frame_Shift_Del	DEL	C	TCGA-HW-7491-01A-11D-2024-08	36065740	43198453	37996757	23	30989											
FUT5	2527	broad.mit.edu	37	19	5867346	5867347	+	Frame_Shift_Ins	INS	-	-	GG	rs111394159		TCGA-HW-7491-01A-11D-2024-08	TCGA-HW-7491-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c29c663-c1ec-468e-9e86-74a2b70da59e	0ba3d269-712a-4990-a51b-7288d4f2adbb	g.chr19:5867346_5867347insGG	ENST00000252675.5	-	5	952_953	c.390_391insCC	c.(388-393)cccagtfs	p.S131fs	FUT5_ENST00000588525.1_Frame_Shift_Ins_p.S131fs			Q11128	FUT5_HUMAN	fucosyltransferase 5 (alpha (1,3) fucosyltransferase)	131					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity|alpha(1,3)-fucosyltransferase activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	12						AGGTTGGCACTGGGGTTGTACA	0.663													25	39	---	---	---	---						GG	5867347	-	GG	5867346	7	5	336	1	0	1	1	0	0	0	0	0	6142	1580	55	0	737	0	FUT5	19	5867346	Frame_Shift_Ins	INS	-	TCGA-HW-7491-01A-11D-2024-08		5867346	53261637	24	30990											
CIC	23152	broad.mit.edu	37	19	42791757	42791757	+	Missense_Mutation	SNP	C	C	T			TCGA-HW-7491-01A-11D-2024-08	TCGA-HW-7491-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c29c663-c1ec-468e-9e86-74a2b70da59e	0ba3d269-712a-4990-a51b-7288d4f2adbb	g.chr19:42791757C>T	ENST00000572681.2	+	6	3438	c.3370C>T	c.(3370-3372)Cgg>Tgg	p.R1124W	CIC_ENST00000160740.3_Missense_Mutation_p.R215W|CIC_ENST00000575354.2_Missense_Mutation_p.R215W			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	215	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	p.R215W(4)		autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CAAGCGGCACCGGGCCCTGGT	0.612			"Mis, F, S"		oligodendroglioma								36	10					0	0	1	0	0	T	42791757	C	T	42791757	3	4	336	1	0	0	0	0	1	0	0	0	3446	643	23	1	661	1	CIC	19	42791757	Missense_Mutation	SNP	C	TCGA-HW-7491-01A-11D-2024-08	36924411	42791757	16337226	25	30991											
PRAMEF2	65122	broad.mit.edu	37	1	12921405	12921405	+	Missense_Mutation	SNP	G	G	A	rs143742734	byFrequency	TCGA-HW-7495-01A-11D-2024-08	TCGA-HW-7495-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a47122-c2cd-4688-99b9-64b2350ef155	af2a33f3-7c62-409d-b291-570872c2612c	g.chr1:12921405G>A	ENST00000240189.2	+	4	1283	c.1196G>A	c.(1195-1197)cGc>cAc	p.R399H		NM_023014.1	NP_075390.1	O60811	PRAM2_HUMAN	PRAME family member 2	399										breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GACCTGCTGCGCCACACCAGT	0.557													7	106					0	0	0.004482	0	0	A	12921405	G	A	12921405	3	1	337	1	0	0	0	0	1	0	0	0	12484	1087	38	1	1206	1	PRAMEF2	1	12921405	Missense_Mutation	SNP	G	TCGA-HW-7495-01A-11D-2024-08		12921405	236329216	1	30992											
CELSR2	1952	broad.mit.edu	37	1	109805553	109805553	+	Missense_Mutation	SNP	A	A	G			TCGA-HW-7495-01A-11D-2024-08	TCGA-HW-7495-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a47122-c2cd-4688-99b9-64b2350ef155	af2a33f3-7c62-409d-b291-570872c2612c	g.chr1:109805553A>G	ENST00000271332.3	+	7	4731	c.4670A>G	c.(4669-4671)gAc>gGc	p.D1557G		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	1557	Laminin G-like 1.				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		CGGCACATAGACATGGCTGAC	0.647													3	30					0	0	0.001168	0	0	G	109805553	A	G	109805553	3	3	337	1	0	0	0	0	1	0	0	0	3244	275	10	3	4696	3	CELSR2	1	109805553	Missense_Mutation	SNP	A	TCGA-HW-7495-01A-11D-2024-08	96884148	109805553	139445068	2	30993											
WDR26	80232	broad.mit.edu	37	1	224619390	224619390	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HW-7495-01A-11D-2024-08	TCGA-HW-7495-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a47122-c2cd-4688-99b9-64b2350ef155	af2a33f3-7c62-409d-b291-570872c2612c	g.chr1:224619390C>T	ENST00000414423.2	-	2	709	c.516G>A	c.(514-516)tgG>tgA	p.W172*	WDR26_ENST00000366852.2_Nonsense_Mutation_p.W172*|WDR26_ENST00000295024.6_Nonsense_Mutation_p.W25*	NM_001115113.2|NM_025160.6	NP_001108585.2|NP_079436.4	Q9H7D7	WDR26_HUMAN	WD repeat domain 26	172	CTLH.					cytoplasm|nucleus				biliary_tract(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)	18				GBM - Glioblastoma multiforme(131;0.0104)		TTACCTTATCCCAGTCTCCTT	0.403													3	45					0	0	0.004672	0	0	T	224619390	C	T	224619390	4	4	337	1	0	0	0	0	0	1	0	0	17343	624	22	2	1521	2	WDR26	1	224619390	Nonsense_Mutation	SNP	C	TCGA-HW-7495-01A-11D-2024-08	114813837	224619390	24631231	3	30994											
STAMBP	10617	broad.mit.edu	37	2	74074536	74074536	+	Missense_Mutation	SNP	C	C	T			TCGA-HW-7495-01A-11D-2024-08	TCGA-HW-7495-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a47122-c2cd-4688-99b9-64b2350ef155	af2a33f3-7c62-409d-b291-570872c2612c	g.chr2:74074536C>T	ENST00000394070.2	+	5	901	c.398C>T	c.(397-399)gCc>gTc	p.A133V	STAMBP_ENST00000339566.3_Missense_Mutation_p.A133V|STAMBP_ENST00000536064.1_Missense_Mutation_p.A133V|STAMBP_ENST00000409707.1_Missense_Mutation_p.A133V|STAMBP_ENST00000394073.1_Missense_Mutation_p.A133V	NM_213622.2	NP_998787.1	O95630	STABP_HUMAN	STAM binding protein	133	Glu-rich.				JAK-STAT cascade|positive regulation of cell proliferation	early endosome|membrane|nucleus	metal ion binding|metallopeptidase activity|protein binding			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	18						GAGGAATTGGCCCGGAACATG	0.463													3	51					0	0	0.009096	0	0	T	74074536	C	T	74074536	3	4	337	1	0	0	0	0	1	0	0	0	15306	739	26	2	412	2	STAMBP	2	74074536	Missense_Mutation	SNP	C	TCGA-HW-7495-01A-11D-2024-08		74074536	169124837	4	30995											
CTNNA2	1496	broad.mit.edu	37	2	80808942	80808942	+	Missense_Mutation	SNP	C	C	T			TCGA-HW-7495-01A-11D-2024-08	TCGA-HW-7495-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a47122-c2cd-4688-99b9-64b2350ef155	af2a33f3-7c62-409d-b291-570872c2612c	g.chr2:80808942C>T	ENST00000466387.1	+	18	2729	c.2005C>T	c.(2005-2007)Cgg>Tgg	p.R669W	AC008067.2_ENST00000430876.1_RNA|CTNNA2_ENST00000496558.1_Missense_Mutation_p.R669W|CTNNA2_ENST00000540488.1_Missense_Mutation_p.R669W|CTNNA2_ENST00000343114.3_Missense_Mutation_p.R348W|CTNNA2_ENST00000402739.4_Missense_Mutation_p.R669W|AC008067.2_ENST00000609950.1_RNA|AC008067.2_ENST00000596887.1_RNA|CTNNA2_ENST00000541047.1_Missense_Mutation_p.R669W|CTNNA2_ENST00000361291.4_Missense_Mutation_p.R703W			P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	669					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton	p.R669W(1)		breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						GCAGAGCGCACGGGTGAGTGG	0.493													20	30					0	0	0.008871	0	0	T	80808942	C	T	80808942	3	4	337	1	0	0	0	0	1	0	0	0	4037	527	19	1	1847	1	CTNNA2	2	80808942	Missense_Mutation	SNP	C	TCGA-HW-7495-01A-11D-2024-08	6734406	80808942	162390431	5	30996											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-HW-7495-01A-11D-2024-08	TCGA-HW-7495-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a47122-c2cd-4688-99b9-64b2350ef155	af2a33f3-7c62-409d-b291-570872c2612c	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								21	43					0	0	0.021523	0	0	T	209113112	C	T	209113112	3	4	337	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HW-7495-01A-11D-2024-08	128304170	209113112	34086261	6	30997											
ARL13B	200894	broad.mit.edu	37	3	93714764	93714764	+	Missense_Mutation	SNP	G	G	A	rs139780924	by1000genomes	TCGA-HW-7495-01A-11D-2024-08	TCGA-HW-7495-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a47122-c2cd-4688-99b9-64b2350ef155	af2a33f3-7c62-409d-b291-570872c2612c	g.chr3:93714764G>A	ENST00000394222.3	+	2	381	c.106G>A	c.(106-108)Gca>Aca	p.A36T	ARL13B_ENST00000486562.1_3'UTR|ARL13B_ENST00000303097.7_Intron|ARL13B_ENST00000539730.1_5'UTR|ARL13B_ENST00000535334.1_Intron|ARL13B_ENST00000471138.1_Missense_Mutation_p.A36T	NM_001174150.1	NP_001167621.1	Q3SXY8	AR13B_HUMAN	ADP-ribosylation factor-like 13B	36							GTP binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(2)	10						TGGTAAAACCGCAACAGCAAA	0.299													13	22					0	0	0.020292	0	0	A	93714764	G	A	93714764	3	1	337	1	0	0	0	0	1	0	0	0	926	1087	38	1	112	1	ARL13B	3	93714764	Missense_Mutation	SNP	G	TCGA-HW-7495-01A-11D-2024-08		93714764	104307666	7	30998											
BOC	91653	broad.mit.edu	37	3	112998818	112998818	+	Missense_Mutation	SNP	C	C	T			TCGA-HW-7495-01A-11D-2024-08	TCGA-HW-7495-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a47122-c2cd-4688-99b9-64b2350ef155	af2a33f3-7c62-409d-b291-570872c2612c	g.chr3:112998818C>T	ENST00000495514.1	+	13	2872	c.2168C>T	c.(2167-2169)gCg>gTg	p.A723V	BOC_ENST00000355385.3_Missense_Mutation_p.A723V|BOC_ENST00000273395.4_Missense_Mutation_p.A724V			Q9BWV1	BOC_HUMAN	BOC cell adhesion associated, oncogene regulated	723	Fibronectin type-III 3.				cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation	integral to membrane|plasma membrane	protein binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	68			Epithelial(53;0.227)			TTCACGGATGCGGTCAATGAG	0.632													3	41					0	0	0.009096	0	0	T	112998818	C	T	112998818	3	4	337	1	0	0	0	0	1	0	0	0	1480	768	27	1	2210	1	BOC	3	112998818	Missense_Mutation	SNP	C	TCGA-HW-7495-01A-11D-2024-08	19284054	112998818	85023612	8	30999											
HTT	3064	broad.mit.edu	37	4	3230369	3230369	+	Missense_Mutation	SNP	A	A	G			TCGA-HW-7495-01A-11D-2024-08	TCGA-HW-7495-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a47122-c2cd-4688-99b9-64b2350ef155	af2a33f3-7c62-409d-b291-570872c2612c	g.chr4:3230369A>G	ENST00000355072.5	+	58	8021	c.7876A>G	c.(7876-7878)Aac>Gac	p.N2626D		NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin	2626					establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		GTGGCTGGGGAACAGCATCAC	0.642													4	45					0	0	0.004482	0	0	G	3230369	A	G	3230369	3	3	337	1	0	0	0	0	1	0	0	0	7501	246	9	3	8106	3	HTT	4	3230369	Missense_Mutation	SNP	A	TCGA-HW-7495-01A-11D-2024-08		3230369	187923907	9	31000											
TRIO	7204	broad.mit.edu	37	5	14406753	14406753	+	Missense_Mutation	SNP	C	C	T	rs55687522		TCGA-HW-7495-01A-11D-2024-08	TCGA-HW-7495-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a47122-c2cd-4688-99b9-64b2350ef155	af2a33f3-7c62-409d-b291-570872c2612c	g.chr5:14406753C>T	ENST00000344204.4	+	33	4955	c.4931C>T	c.(4930-4932)aCg>aTg	p.T1644M	TRIO_ENST00000537187.1_Missense_Mutation_p.T1644M	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	1644			T -> M (in dbSNP:rs55687522).		apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	p.T1644M(1)		NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					GCCTCACGGACGTCTCAGAAC	0.567													31	66					0	0	0.010818	0	0	T	14406753	C	T	14406753	3	4	337	1	0	0	0	0	1	0	0	0	16613	536	19	1	5061	1	TRIO	5	14406753	Missense_Mutation	SNP	C	TCGA-HW-7495-01A-11D-2024-08		14406753	166508507	10	31001											
PCDHB7	56129	broad.mit.edu	37	5	140552718	140552718	+	Missense_Mutation	SNP	C	C	T	rs139238267		TCGA-HW-7495-01A-11D-2024-08	TCGA-HW-7495-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a47122-c2cd-4688-99b9-64b2350ef155	af2a33f3-7c62-409d-b291-570872c2612c	g.chr5:140552718C>T	ENST00000231137.3	+	1	476	c.302C>T	c.(301-303)cCc>cTc	p.P101L		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN		101	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.P101H(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCCAGAGAGCCCTGTGTGCTG	0.443													4	102					0	0	0.001168	0	0	T	140552718	C	T	140552718	3	4	337	1	0	0	0	0	1	0	0	0	11594	623	22	2	304	2	PCDHB7	5	140552718	Missense_Mutation	SNP	C	TCGA-HW-7495-01A-11D-2024-08	126145965	140552718	40362542	11	31002											
RREB1	6239	broad.mit.edu	37	6	7240706	7240706	+	Missense_Mutation	SNP	T	T	A			TCGA-HW-7495-01A-11D-2024-08	TCGA-HW-7495-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a47122-c2cd-4688-99b9-64b2350ef155	af2a33f3-7c62-409d-b291-570872c2612c	g.chr6:7240706T>A	ENST00000379938.2	+	11	4381	c.3844T>A	c.(3844-3846)Ttc>Atc	p.F1282I	RREB1_ENST00000349384.6_Intron|RREB1_ENST00000379933.3_Intron|RREB1_ENST00000334984.6_Missense_Mutation_p.F1282I	NM_001003699.3|NM_001003700.1	NP_001003699.1|NP_001003700.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	1272					multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				ATGCGATGCCTTCTTTTCTAC	0.423													31	92					0	0	0.019004	0	0	A	7240706	T	A	7240706	3	1	337	1	0	0	0	0	1	0	0	0	13731	1609	56	5	3874	5	RREB1	6	7240706	Missense_Mutation	SNP	T	TCGA-HW-7495-01A-11D-2024-08		7240706	163874361	12	31003											
DNAH11	8701	broad.mit.edu	37	7	21639635	21639635	+	Silent	SNP	G	G	A			TCGA-HW-7495-01A-11D-2024-08	TCGA-HW-7495-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a47122-c2cd-4688-99b9-64b2350ef155	af2a33f3-7c62-409d-b291-570872c2612c	g.chr7:21639635G>A	ENST00000328843.6	+	15	2929	c.2898G>A	c.(2896-2898)ggG>ggA	p.G966G	DNAH11_ENST00000409508.3_Silent_p.G966G			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	966	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						GAGAGGCTGGGGATGGCTTCT	0.393									Kartagener syndrome				4	46					0	0	0.009096	0	0	A	21639635	G	A	21639635	2	1	337	1	0	0	0	0	0	0	0	1	4627	1219	43	2		2	DNAH11	7	21639635	Silent	SNP	G	TCGA-HW-7495-01A-11D-2024-08		21639635	137499028	13	31004											
AEBP1	165	broad.mit.edu	37	7	44153669	44153669	+	Missense_Mutation	SNP	G	G	A	rs146155697		TCGA-HW-7495-01A-11D-2024-08	TCGA-HW-7495-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a47122-c2cd-4688-99b9-64b2350ef155	af2a33f3-7c62-409d-b291-570872c2612c	g.chr7:44153669G>A	ENST00000223357.3	+	21	3591	c.3286G>A	c.(3286-3288)Gag>Aag	p.E1096K	AEBP1_ENST00000450684.2_Missense_Mutation_p.E671K	NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN	AE binding protein 1	1096	Glu-rich.|Interaction with MAPK1 and MAPK3 (By similarity).|Required for transcriptional repression (By similarity).				cell adhesion|muscle organ development|proteolysis|skeletal system development	cytoplasm|extracellular space|nucleus	DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						GTTTGGGACCGAGGTGGAGCC	0.597													4	53					0	0	0.014758	0	0	A	44153669	G	A	44153669	3	1	337	1	0	0	0	0	1	0	0	0	348	1059	37	1	3368	1	AEBP1	7	44153669	Missense_Mutation	SNP	G	TCGA-HW-7495-01A-11D-2024-08	22514034	44153669	114984994	14	31005											
CADPS2	93664	broad.mit.edu	37	7	122130306	122130306	+	Missense_Mutation	SNP	C	C	A			TCGA-HW-7495-01A-11D-2024-08	TCGA-HW-7495-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a47122-c2cd-4688-99b9-64b2350ef155	af2a33f3-7c62-409d-b291-570872c2612c	g.chr7:122130306C>A	ENST00000334010.7	-	11	2102	c.1681G>T	c.(1681-1683)Gct>Tct	p.A561S	CADPS2_ENST00000412584.2_Missense_Mutation_p.A561S|CADPS2_ENST00000313070.7_Missense_Mutation_p.A561S|CADPS2_ENST00000449022.2_Missense_Mutation_p.A561S	NM_001167940.1	NP_001161412.1	Q86UW7	CAPS2_HUMAN	Ca++-dependent secretion activator 2	561	PH.				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						TCTTTAACAGCATTAAAGAAC	0.378													16	160					2.94398e-08	3.06926e-08	0.007413	1	0	A	122130306	C	A	122130306	3	1	337	1	0	0	0	0	1	0	0	0	2589	710	25	5	2333	5	CADPS2	7	122130306	Missense_Mutation	SNP	C	TCGA-HW-7495-01A-11D-2024-08	77976637	122130306	37008357	15	31006											
DOCK8	81704	broad.mit.edu	37	9	289509	289509	+	Splice_Site	SNP	G	G	A			TCGA-HW-7495-01A-11D-2024-08	TCGA-HW-7495-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a47122-c2cd-4688-99b9-64b2350ef155	af2a33f3-7c62-409d-b291-570872c2612c	g.chr9:289509G>A	ENST00000432829.2	+	4	444		c.e4-1		DOCK8_ENST00000469391.1_Splice_Site|DOCK8_ENST00000453981.1_Splice_Site	NM_203447.3	NP_982272.2	Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8						blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		TACCTCATTAGGGTTGAACTG	0.388													4	30					0	0	0.014758	0	0	A	289509	G	A	289509	5	1	337	1	0	0	0	0	0	0	1	0	4720	1014	35	2	346	2	DOCK8	9	289509	Splice_Site	SNP	G	TCGA-HW-7495-01A-11D-2024-08		289509	140923922	16	31007											
MUC2	4583	broad.mit.edu	37	11	1103827	1103827	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HW-7495-01A-11D-2024-08	TCGA-HW-7495-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a47122-c2cd-4688-99b9-64b2350ef155	af2a33f3-7c62-409d-b291-570872c2612c	g.chr11:1103827delC	ENST00000441003.2	+	48	8153	c.8126delC	c.(8125-8127)accfs	p.T2709fs		NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	5071						inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	CGCAATGAGACCAGGGTGCCC	0.672													2	4	---	---	---	---						-	1103827	C	-	1103827	7	5	337	1	0	1	0	1	0	0	0	0	10023	507	18	0	8308	0	MUC2	11	1103827	Frame_Shift_Del	DEL	C	TCGA-HW-7495-01A-11D-2024-08		1103827	133902689	17	31008											
TRIM22	10346	broad.mit.edu	37	11	5730667	5730667	+	Missense_Mutation	SNP	C	C	T			TCGA-HW-7495-01A-11D-2024-08	TCGA-HW-7495-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a47122-c2cd-4688-99b9-64b2350ef155	af2a33f3-7c62-409d-b291-570872c2612c	g.chr11:5730667C>T	ENST00000379965.3	+	8	1563	c.1286C>T	c.(1285-1287)cCc>cTc	p.P429L	TRIM5_ENST00000380027.1_Intron	NM_001199573.1|NM_006074.4	NP_001186502.1|NP_006065.2	Q8IYM9	TRI22_HUMAN	tripartite motif containing 22	429	B30.2/SPRY.				immune response|interspecies interaction between organisms|protein trimerization|response to virus	Cajal body|Golgi apparatus|nuclear speck	ligase activity|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			kidney(3)|large_intestine(8)|lung(9)|prostate(1)|stomach(2)	23		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;7.54e-09)|BRCA - Breast invasive adenocarcinoma(625;0.14)		TCTTCTGATCCCAAGGTTTTG	0.413													5	153					0	0	0.014758	0	0	T	5730667	C	T	5730667	3	4	337	1	0	0	0	0	1	0	0	0	16557	623	22	2	1312	2	TRIM22	11	5730667	Missense_Mutation	SNP	C	TCGA-HW-7495-01A-11D-2024-08	4626840	5730667	129275849	18	31009											
PRDM10	56980	broad.mit.edu	37	11	129817095	129817095	+	Silent	SNP	C	C	T			TCGA-HW-7495-01A-11D-2024-08	TCGA-HW-7495-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a47122-c2cd-4688-99b9-64b2350ef155	af2a33f3-7c62-409d-b291-570872c2612c	g.chr11:129817095C>T	ENST00000358825.5	-	5	696	c.465G>A	c.(463-465)acG>acA	p.T155T	PRDM10_ENST00000360871.3_Silent_p.T155T|PRDM10_ENST00000526082.1_Silent_p.T69T|PRDM10_ENST00000304538.6_Silent_p.T69T|PRDM10_ENST00000528746.1_Silent_p.T129T|PRDM10_ENST00000423662.2_Silent_p.T69T	NM_020228.2	NP_064613.2	Q9NQV6	PRD10_HUMAN	PR domain containing 10	155					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.T155T(1)		breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)		CATCCAGATCCGTGTCCTCAC	0.597													25	64					0	0	0.005443	0	0	T	129817095	C	T	129817095	2	4	337	1	0	0	0	0	0	0	0	1	12503	639	23	1		1	PRDM10	11	129817095	Silent	SNP	C	TCGA-HW-7495-01A-11D-2024-08	124086428	129817095	5189421	19	31010											
KCNH5	27133	broad.mit.edu	37	14	63269245	63269245	+	Missense_Mutation	SNP	G	G	A			TCGA-HW-7495-01A-11D-2024-08	TCGA-HW-7495-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a47122-c2cd-4688-99b9-64b2350ef155	af2a33f3-7c62-409d-b291-570872c2612c	g.chr14:63269245G>A	ENST00000322893.7	-	9	1892	c.1624C>T	c.(1624-1626)Cgg>Tgg	p.R542W	KCNH5_ENST00000420622.2_Missense_Mutation_p.R542W|KCNH5_ENST00000394968.1_Missense_Mutation_p.R484W	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	542					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		AAAACCTTCCGGTTTAGATGA	0.493													5	62					0	0	0.001984	0	0	A	63269245	G	A	63269245	3	1	337	1	0	0	0	0	1	0	0	0	8079	1115	39	1	1388	1	KCNH5	14	63269245	Missense_Mutation	SNP	G	TCGA-HW-7495-01A-11D-2024-08		63269245	44080295	20	31011											
CRLF3	51379	broad.mit.edu	37	17	29112983	29112983	+	Silent	SNP	T	T	C			TCGA-HW-7495-01A-11D-2024-08	TCGA-HW-7495-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a47122-c2cd-4688-99b9-64b2350ef155	af2a33f3-7c62-409d-b291-570872c2612c	g.chr17:29112983T>C	ENST00000324238.6	-	7	1150	c.1026A>G	c.(1024-1026)ggA>ggG	p.G342G	CRLF3_ENST00000544695.1_Silent_p.G226G|CRLF3_ENST00000577725.1_Intron	NM_015986.3	NP_057070.3	Q8IUI8	CRLF3_HUMAN	cytokine receptor-like factor 3	342					negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|positive regulation of cell cycle arrest|positive regulation of JAK-STAT cascade|positive regulation of transcription from RNA polymerase II promoter	cytoplasm				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	17		all_hematologic(16;0.014)|Acute lymphoblastic leukemia(14;0.0236)|Myeloproliferative disorder(56;0.0255)				GAGAGTCATATCCATCCTGTT	0.363													12	104					0	0	0.016723	0	0	C	29112983	T	C	29112983	2	2	337	1	0	0	0	0	0	0	0	1	3911	1422	50	3		3	CRLF3	17	29112983	Silent	SNP	T	TCGA-HW-7495-01A-11D-2024-08		29112983	52082227	21	31012											
NWD1	284434	broad.mit.edu	37	19	16874671	16874671	+	Silent	SNP	G	G	A	rs117965437	by1000genomes	TCGA-HW-7495-01A-11D-2024-08	TCGA-HW-7495-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a47122-c2cd-4688-99b9-64b2350ef155	af2a33f3-7c62-409d-b291-570872c2612c	g.chr19:16874671G>A	ENST00000524140.2	+	9	2584	c.2166G>A	c.(2164-2166)acG>acA	p.T722T	NWD1_ENST00000523826.1_Silent_p.T516T|NWD1_ENST00000549814.1_Silent_p.T722T|NWD1_ENST00000339803.6_Silent_p.T587T|NWD1_ENST00000379808.3_Silent_p.T722T|NWD1_ENST00000552788.1_Silent_p.T722T	NM_001007525.3	NP_001007526.3	Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	722							ATP binding			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						TCTCACATACGGTTGCAAACC	0.592													4	57					0	0	0.014758	0	0	A	16874671	G	A	16874671	2	1	337	1	0	0	0	0	0	0	0	1	10829	1103	39	1		1	NWD1	19	16874671	Silent	SNP	G	TCGA-HW-7495-01A-11D-2024-08		16874671	42254312	22	31013											
BAX	581	broad.mit.edu	37	19	49459501	49459501	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HW-7495-01A-11D-2024-08	TCGA-HW-7495-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a47122-c2cd-4688-99b9-64b2350ef155	af2a33f3-7c62-409d-b291-570872c2612c	g.chr19:49459501C>T	ENST00000293288.8	+	4	280	c.280C>T	c.(280-282)Cga>Tga	p.R94*	BAX_ENST00000345358.7_Nonsense_Mutation_p.R94*|BAX_ENST00000391871.3_3'UTR|BAX_ENST00000539787.1_Nonsense_Mutation_p.R94*|BAX_ENST00000415969.2_Nonsense_Mutation_p.R94*|BAX_ENST00000354470.3_Nonsense_Mutation_p.R45*	NM_004324.3	NP_004315.1	Q07812	BAX_HUMAN	BCL2-associated X protein	94					activation of caspase activity by cytochrome c|activation of pro-apoptotic gene products|B cell apoptosis|cleavage of lamin|DNA fragmentation involved in apoptotic nuclear change|establishment or maintenance of transmembrane electrochemical gradient|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|induction of retinal programmed cell death|mitochondrial fragmentation involved in apoptosis|mitochondrial fusion|negative regulation of protein binding|negative regulation of survival gene product expression|nuclear fragmentation involved in apoptotic nuclear change|positive regulation of neuron apoptosis|protein homooligomerization|regulation of mitochondrial membrane potential|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|release of cytochrome c from mitochondria|release of matrix enzymes from mitochondria|response to toxin|transformed cell apoptosis	cytosol|endoplasmic reticulum membrane|mitochondrial outer membrane|mitochondrial permeability transition pore complex|nucleus	BH3 domain binding|channel activity|lipid binding|protein heterodimerization activity|protein homodimerization activity	p.R94*(1)		central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(7)|skin(2)|urinary_tract(4)	17		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000159)|all cancers(93;0.00047)|GBM - Glioblastoma multiforme(486;0.018)|Epithelial(262;0.0279)		GGTCTTTTTCCGAGTGGCAGC	0.587													10	79					0	0	0.008291	0	0	T	49459501	C	T	49459501	4	4	337	1	0	0	0	0	0	1	0	0	1326	644	23	1	294	1	BAX	19	49459501	Nonsense_Mutation	SNP	C	TCGA-HW-7495-01A-11D-2024-08	32584830	49459501	9669482	23	31014											
ZNF579	163033	broad.mit.edu	37	19	56090218	56090218	+	Missense_Mutation	SNP	G	G	A			TCGA-HW-7495-01A-11D-2024-08	TCGA-HW-7495-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a47122-c2cd-4688-99b9-64b2350ef155	af2a33f3-7c62-409d-b291-570872c2612c	g.chr19:56090218G>A	ENST00000325421.4	-	2	816	c.788C>T	c.(787-789)cCc>cTc	p.P263L		NM_152600.2	NP_689813.2	Q8NAF0	ZN579_HUMAN	zinc finger protein 579	263					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.106)		GCGTGGCGGGGGCCCCCCTTC	0.716													5	3					0	0	0.014758	0	0	A	56090218	G	A	56090218	3	1	337	1	0	0	0	0	1	0	0	0	18068	1232	43	2	904	2	ZNF579	19	56090218	Missense_Mutation	SNP	G	TCGA-HW-7495-01A-11D-2024-08	6630717	56090218	3038765	24	31015											
SH3KBP1	30011	broad.mit.edu	37	X	19764444	19764444	+	Missense_Mutation	SNP	T	T	A			TCGA-HW-7495-01A-11D-2024-08	TCGA-HW-7495-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a47122-c2cd-4688-99b9-64b2350ef155	af2a33f3-7c62-409d-b291-570872c2612c	g.chrX:19764444T>A	ENST00000397821.3	-	3	568	c.278A>T	c.(277-279)aAt>aTt	p.N93I	SH3KBP1_ENST00000379697.3_Missense_Mutation_p.N93I|SH3KBP1_ENST00000379698.4_Missense_Mutation_p.N56I	NM_031892.2	NP_114098.1	Q96B97	SH3K1_HUMAN	SH3-domain kinase binding protein 1	93					apoptosis|cell-cell signaling|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	cytoplasmic vesicle membrane|cytoskeleton|cytosol|focal adhesion|nucleus|synapse|synaptosome	SH3 domain binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(4)	29						ACCTCTCTTATTGGTTCTTAA	0.423													55	75					0	0	0.01441	0	0	A	19764444	T	A	19764444	3	1	337	1	0	0	0	0	1	0	0	0	14310	1493	52	4	1799	4	SH3KBP1	23	19764444	Missense_Mutation	SNP	T	TCGA-HW-7495-01A-11D-2024-08		19764444	135506116	25	31016											
WDR44	54521	broad.mit.edu	37	X	117527112	117527112	+	Missense_Mutation	SNP	G	G	A			TCGA-HW-7495-01A-11D-2024-08	TCGA-HW-7495-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a47122-c2cd-4688-99b9-64b2350ef155	af2a33f3-7c62-409d-b291-570872c2612c	g.chrX:117527112G>A	ENST00000254029.3	+	4	1099	c.704G>A	c.(703-705)cGc>cAc	p.R235H	WDR44_ENST00000371822.5_Missense_Mutation_p.R210H|WDR44_ENST00000493448.1_3'UTR|WDR44_ENST00000371825.3_Missense_Mutation_p.R235H	NM_019045.4	NP_061918.3	Q5JSH3	WDR44_HUMAN	WD repeat domain 44	235	Pro-rich.					cytosol|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm				breast(4)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	33						GTTCCAGCACGCCCACCTCCT	0.522													91	191					0	0	0.01441	0	0	A	117527112	G	A	117527112	3	1	337	1	0	0	0	0	1	0	0	0	17356	1087	38	1	718	1	WDR44	23	117527112	Missense_Mutation	SNP	G	TCGA-HW-7495-01A-11D-2024-08	97762668	117527112	37743448	26	31017											
IGSF1	3547	broad.mit.edu	37	X	130412511	130412511	+	Silent	SNP	G	G	A	rs150559043		TCGA-HW-7495-01A-11D-2024-08	TCGA-HW-7495-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a47122-c2cd-4688-99b9-64b2350ef155	af2a33f3-7c62-409d-b291-570872c2612c	g.chrX:130412511G>A	ENST00000370904.1	-	18	2848	c.1938C>T	c.(1936-1938)acC>acT	p.T646T	IGSF1_ENST00000370903.3_Silent_p.T660T|IGSF1_ENST00000361420.3_Silent_p.T655T|IGSF1_ENST00000370910.1_Silent_p.T646T			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	655	Ig-like C2-type 6.				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						GGTAGCTCCCGGTGTGGCTCT	0.627													5	120					0	0	0.014758	0	0	A	130412511	G	A	130412511	2	1	337	1	0	0	0	0	0	0	0	1	7640	1103	39	1		1	IGSF1	23	130412511	Silent	SNP	G	TCGA-HW-7495-01A-11D-2024-08	12885399	130412511	24858049	27	31018											
HIVEP3	59269	broad.mit.edu	37	1	41978828	41978828	+	Missense_Mutation	SNP	C	C	T			TCGA-HW-8319-01A-11D-2395-08	TCGA-HW-8319-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb65935e-13c0-445a-aa77-e8dde888957e	cc240084-66ac-4c53-a3ee-12444b168db2	g.chr1:41978828C>T	ENST00000372584.1	-	7	7078	c.6064G>A	c.(6064-6066)Ggc>Agc	p.G2022S	HIVEP3_ENST00000429157.2_Missense_Mutation_p.G2022S|HIVEP3_ENST00000460604.1_5'UTR|HIVEP3_ENST00000247584.5_Missense_Mutation_p.G2022S|HIVEP3_ENST00000372583.1_Missense_Mutation_p.G2022S	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	2022					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)				GGGAGAGCGCCCATGCCCCTT	0.632													31	38					0	0	1	0	0	T	41978828	C	T	41978828	3	4	338	1	0	0	0	0	1	0	0	0	7229	623	22	2	1164	2	HIVEP3	1	41978828	Missense_Mutation	SNP	C	TCGA-HW-8319-01A-11D-2395-08		41978828	207271793	1	31019											
CD1E	913	broad.mit.edu	37	1	158325319	158325319	+	Silent	SNP	G	G	A			TCGA-HW-8319-01A-11D-2395-08	TCGA-HW-8319-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb65935e-13c0-445a-aa77-e8dde888957e	cc240084-66ac-4c53-a3ee-12444b168db2	g.chr1:158325319G>A	ENST00000444681.2	+	2	581	c.288G>A	c.(286-288)gcG>gcA	p.A96A	CD1E_ENST00000368155.3_Intron|CD1E_ENST00000368156.1_Intron|CD1E_ENST00000452291.2_Intron|CD1E_ENST00000368165.3_Intron|CD1E_ENST00000368157.1_Intron|CD1E_ENST00000368154.1_Intron|CD1E_ENST00000434258.1_Silent_p.A193A|CD1E_ENST00000368167.3_Silent_p.A195A|CD1E_ENST00000368164.3_Intron|CD1E_ENST00000368166.3_Intron|CD1E_ENST00000368160.3_Silent_p.A195A|CD1E_ENST00000368161.3_Silent_p.A195A|CD1E_ENST00000368163.3_Silent_p.A195A	NM_001185114.1	NP_001172043.1	P15812	CD1E_HUMAN	CD1e molecule	195					antigen processing and presentation|immune response	early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen				breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					GATTTCTAGCGGGGCTCATGG	0.478													3	31					0	0	1	0	0	A	158325319	G	A	158325319	2	1	338	1	0	0	0	0	0	0	0	1	3000	1103	39	1		1	CD1E	1	158325319	Silent	SNP	G	TCGA-HW-8319-01A-11D-2395-08	116346491	158325319	90925302	2	31020											
OR2T1	26696	broad.mit.edu	37	1	248570030	248570030	+	Silent	SNP	C	C	T	rs148427102		TCGA-HW-8319-01A-11D-2395-08	TCGA-HW-8319-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb65935e-13c0-445a-aa77-e8dde888957e	cc240084-66ac-4c53-a3ee-12444b168db2	g.chr1:248570030C>T	ENST00000366474.1	+	1	735	c.735C>T	c.(733-735)taC>taT	p.Y245Y		NM_030904.1	NP_112166.1	O43869	OR2T1_HUMAN	olfactory receptor, family 2, subfamily T, member 1	245					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	39	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CAGCCCTCTACGAGACAGTGA	0.493													33	45					0	0	1	0	0	T	248570030	C	T	248570030	2	4	338	1	0	0	0	0	0	0	0	1	11064	547	19	1		1	OR2T1	1	248570030	Silent	SNP	C	TCGA-HW-8319-01A-11D-2395-08	90244711	248570030	680591	3	31021											
APOB	338	broad.mit.edu	37	2	21226157	21226157	+	Missense_Mutation	SNP	C	C	T	rs149273387		TCGA-HW-8319-01A-11D-2395-08	TCGA-HW-8319-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb65935e-13c0-445a-aa77-e8dde888957e	cc240084-66ac-4c53-a3ee-12444b168db2	g.chr2:21226157C>T	ENST00000233242.1	-	29	12264	c.12137G>A	c.(12136-12138)cGg>cAg	p.R4046Q		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	4046					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	ATCAGATTCCCGGACCCTCAA	0.408													110	214					0	0	1	0	0	T	21226157	C	T	21226157	3	4	338	1	0	0	0	0	1	0	0	0	782	652	23	1	1558	1	APOB	2	21226157	Missense_Mutation	SNP	C	TCGA-HW-8319-01A-11D-2395-08		21226157	221973216	4	31022											
SCN2A	6326	broad.mit.edu	37	2	166211024	166211024	+	Missense_Mutation	SNP	G	G	C			TCGA-HW-8319-01A-11D-2395-08	TCGA-HW-8319-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb65935e-13c0-445a-aa77-e8dde888957e	cc240084-66ac-4c53-a3ee-12444b168db2	g.chr2:166211024G>C	ENST00000375437.2	+	17	3532	c.3242G>C	c.(3241-3243)aGt>aCt	p.S1081T	SCN2A_ENST00000283256.6_Missense_Mutation_p.S1081T|SCN2A_ENST00000357398.3_Missense_Mutation_p.S1081T|SCN2A_ENST00000375427.2_Missense_Mutation_p.S1081T	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	1081					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	ATAGGCAGCAGTGTAGAAAAA	0.388													29	49					0	0	1	0	0	C	166211024	G	C	166211024	3	2	338	1	0	0	0	0	1	0	0	0	13970	1029	36	4	3400	4	SCN2A	2	166211024	Missense_Mutation	SNP	G	TCGA-HW-8319-01A-11D-2395-08	144984867	166211024	76988349	5	31023											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-HW-8319-01A-11D-2395-08	TCGA-HW-8319-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb65935e-13c0-445a-aa77-e8dde888957e	cc240084-66ac-4c53-a3ee-12444b168db2	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	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								26	44					0	0	1	0	0	T	209113112	C	T	209113112	3	4	338	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HW-8319-01A-11D-2395-08	42902088	209113112	34086261	6	31024											
ANKRD28	23243	broad.mit.edu	37	3	15719776	15719776	+	Missense_Mutation	SNP	C	C	T			TCGA-HW-8319-01A-11D-2395-08	TCGA-HW-8319-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb65935e-13c0-445a-aa77-e8dde888957e	cc240084-66ac-4c53-a3ee-12444b168db2	g.chr3:15719776C>T	ENST00000399451.2	-	24	2924	c.2557G>A	c.(2557-2559)Gac>Aac	p.D853N	ANKRD28_ENST00000383777.1_Missense_Mutation_p.D886N|ANKRD28_ENST00000497037.1_5'UTR	NM_001195098.1|NM_001195099.1|NM_015199.3	NP_001182027.1|NP_001182028.1|NP_056014.2	O15084	ANR28_HUMAN	ankyrin repeat domain 28	853						nucleoplasm	protein binding			breast(2)|endometrium(1)|large_intestine(2)|prostate(1)	6						CCTGTAGAGTCCACAGAATTG	0.398													16	16					0	0	1	0	0	T	15719776	C	T	15719776	3	4	338	1	0	0	0	0	1	0	0	0	652	855	30	2	624	2	ANKRD28	3	15719776	Missense_Mutation	SNP	C	TCGA-HW-8319-01A-11D-2395-08		15719776	182302654	7	31025											
SATB1	6304	broad.mit.edu	37	3	18435971	18435971	+	Missense_Mutation	SNP	C	C	A			TCGA-HW-8319-01A-11D-2395-08	TCGA-HW-8319-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb65935e-13c0-445a-aa77-e8dde888957e	cc240084-66ac-4c53-a3ee-12444b168db2	g.chr3:18435971C>A	ENST00000338745.6	-	7	2923	c.1189G>T	c.(1189-1191)Gct>Tct	p.A397S	TBC1D5_ENST00000414318.2_Intron|SATB1_ENST00000454909.2_Missense_Mutation_p.A397S|SATB1_ENST00000417717.2_Missense_Mutation_p.A397S	NM_002971.4	NP_002962.1	Q01826	SATB1_HUMAN	SATB homeobox 1	397					cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter	nuclear matrix|PML body	double-stranded DNA binding|sequence-specific DNA binding			NS(2)|breast(2)|endometrium(6)|large_intestine(4)|lung(10)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	32						CTGTTAAAAGCCACACGTGCA	0.433													46	92					1.61004e-24	1.68794e-24	1	1	0	A	18435971	C	A	18435971	3	1	338	1	0	0	0	0	1	0	0	0	13906	739	26	5	1122	5	SATB1	3	18435971	Missense_Mutation	SNP	C	TCGA-HW-8319-01A-11D-2395-08	2716195	18435971	179586459	8	31026											
SLC4A7	9497	broad.mit.edu	37	3	27439832	27439832	+	Missense_Mutation	SNP	G	G	C			TCGA-HW-8319-01A-11D-2395-08	TCGA-HW-8319-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb65935e-13c0-445a-aa77-e8dde888957e	cc240084-66ac-4c53-a3ee-12444b168db2	g.chr3:27439832G>C	ENST00000295736.5	-	17	2483	c.2413C>G	c.(2413-2415)Ctt>Gtt	p.L805V	SLC4A7_ENST00000445684.1_Missense_Mutation_p.L801V|SLC4A7_ENST00000428386.1_Missense_Mutation_p.L681V|SLC4A7_ENST00000388777.4_Missense_Mutation_p.L355V|SLC4A7_ENST00000425128.2_3'UTR|SLC4A7_ENST00000446700.1_Missense_Mutation_p.L797V|SLC4A7_ENST00000440156.1_Missense_Mutation_p.L801V|SLC4A7_ENST00000455077.1_Missense_Mutation_p.L686V|SLC4A7_ENST00000454389.1_Missense_Mutation_p.L814V|SLC4A7_ENST00000435667.2_Missense_Mutation_p.L690V|SLC4A7_ENST00000437179.1_Missense_Mutation_p.L686V	NM_003615.4	NP_003606.3	Q9Y6M7	S4A7_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 7	805						apical plasma membrane|basolateral plasma membrane|integral to membrane|stereocilium	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38						ACACCACGAAGTTTTTTACAT	0.363													43	43					0	0	1	0	0	C	27439832	G	C	27439832	3	2	338	1	0	0	0	0	1	0	0	0	14713	1029	36	4	1267	4	SLC4A7	3	27439832	Missense_Mutation	SNP	G	TCGA-HW-8319-01A-11D-2395-08	9003861	27439832	170582598	9	31027											
MYH15	22989	broad.mit.edu	37	3	108195254	108195254	+	Missense_Mutation	SNP	G	G	A			TCGA-HW-8319-01A-11D-2395-08	TCGA-HW-8319-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb65935e-13c0-445a-aa77-e8dde888957e	cc240084-66ac-4c53-a3ee-12444b168db2	g.chr3:108195254G>A	ENST00000273353.3	-	13	1339	c.1283C>T	c.(1282-1284)aCt>aTt	p.T428I		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	428	Myosin head-like.					myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						CTGTTCTATAGTTTGACCTCT	0.338													26	23					0	0	1	0	0	A	108195254	G	A	108195254	3	1	338	1	0	0	0	0	1	0	0	0	10082	1029	36	2	4677	2	MYH15	3	108195254	Missense_Mutation	SNP	G	TCGA-HW-8319-01A-11D-2395-08	80755422	108195254	89827176	10	31028											
HCN1	348980	broad.mit.edu	37	5	45262407	45262407	+	Silent	SNP	C	C	T			TCGA-HW-8319-01A-11D-2395-08	TCGA-HW-8319-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb65935e-13c0-445a-aa77-e8dde888957e	cc240084-66ac-4c53-a3ee-12444b168db2	g.chr5:45262407C>T	ENST00000303230.4	-	8	2346	c.2289G>A	c.(2287-2289)ccG>ccA	p.P763P		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	763						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						CTTCATTTTTCGGCGTGGAGC	0.652													29	31					0	0	1	0	0	T	45262407	C	T	45262407	2	4	338	1	0	0	0	0	0	0	0	1	7037	871	31	1		1	HCN1	5	45262407	Silent	SNP	C	TCGA-HW-8319-01A-11D-2395-08		45262407	135652853	11	31029											
ERAP2	64167	broad.mit.edu	37	5	96215430	96215430	+	Missense_Mutation	SNP	C	C	T			TCGA-HW-8319-01A-11D-2395-08	TCGA-HW-8319-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb65935e-13c0-445a-aa77-e8dde888957e	cc240084-66ac-4c53-a3ee-12444b168db2	g.chr5:96215430C>T	ENST00000437043.3	+	2	752	c.41C>T	c.(40-42)cCa>cTa	p.P14L	ERAP2_ENST00000379904.4_Missense_Mutation_p.P14L|CTD-2260A17.2_ENST00000501338.1_Intron|ERAP2_ENST00000510309.1_Missense_Mutation_p.P14L	NM_001130140.1|NM_022350.3	NP_001123612.1|NP_071745.1	Q6P179	ERAP2_HUMAN	endoplasmic reticulum aminopeptidase 2	14					antigen processing and presentation of endogenous peptide antigen via MHC class I|proteolysis|regulation of blood pressure	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24		all_cancers(142;0.000311)|all_epithelial(76;1.54e-06)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0596)|Ovarian(225;0.105)		COAD - Colon adenocarcinoma(37;0.0703)		CACAGAAAACCAATGTTTAAC	0.373													6	82					0	0	1	0	0	T	96215430	C	T	96215430	3	4	338	1	0	0	0	0	1	0	0	0	5232	594	21	2	43	2	ERAP2	5	96215430	Missense_Mutation	SNP	C	TCGA-HW-8319-01A-11D-2395-08	50953023	96215430	84699830	12	31030											
LIMK1	3984	broad.mit.edu	37	7	73511062	73511062	+	Missense_Mutation	SNP	C	C	G			TCGA-HW-8319-01A-11D-2395-08	TCGA-HW-8319-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb65935e-13c0-445a-aa77-e8dde888957e	cc240084-66ac-4c53-a3ee-12444b168db2	g.chr7:73511062C>G	ENST00000418310.1	+	3	455	c.353C>G	c.(352-354)tCt>tGt	p.S118C	LIMK1_ENST00000336180.2_Missense_Mutation_p.S88C|LIMK1_ENST00000538333.3_Missense_Mutation_p.S54C|LIMK1_ENST00000491052.1_3'UTR			P53667	LIMK1_HUMAN	LIM domain kinase 1	88	LIM zinc-binding 2.				actin cytoskeleton organization|axon guidance|negative regulation of ubiquitin-protein ligase activity|positive regulation of actin filament bundle assembly|positive regulation of axon extension|Rho protein signal transduction	cytosol|growth cone|nucleus	ATP binding|heat shock protein binding|protein serine/threonine kinase activity|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	21		Lung NSC(55;0.137)				CATGGGTGCTCTGAGCAAATC	0.597													18	34					0	0	1	0	0	G	73511062	C	G	73511062	3	3	338	1	0	0	0	0	1	0	0	0	8841	913	32	4	273	4	LIMK1	7	73511062	Missense_Mutation	SNP	C	TCGA-HW-8319-01A-11D-2395-08		73511062	85627601	13	31031											
LRRCC1	85444	broad.mit.edu	37	8	86021973	86021973	+	Missense_Mutation	SNP	T	T	G			TCGA-HW-8319-01A-11D-2395-08	TCGA-HW-8319-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb65935e-13c0-445a-aa77-e8dde888957e	cc240084-66ac-4c53-a3ee-12444b168db2	g.chr8:86021973T>G	ENST00000414626.2	+	1	1077	c.188T>G	c.(187-189)cTa>cGa	p.L63R	LRRCC1_ENST00000360375.3_Missense_Mutation_p.L83R			Q9C099	LRCC1_HUMAN	leucine rich repeat and coiled-coil centrosomal protein 1	83					cell division|mitosis	centriole|nucleus				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						ATTGAAGGACTAAACACACTG	0.323													9	11					0	0	1	0	0	G	86021973	T	G	86021973	3	3	338	1	0	0	0	0	1	0	0	0	9071	1522	53	5	254	5	LRRCC1	8	86021973	Missense_Mutation	SNP	T	TCGA-HW-8319-01A-11D-2395-08		86021973	60342049	14	31032											
RASEF	158158	broad.mit.edu	37	9	85607825	85607825	+	Missense_Mutation	SNP	G	G	C			TCGA-HW-8319-01A-11D-2395-08	TCGA-HW-8319-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb65935e-13c0-445a-aa77-e8dde888957e	cc240084-66ac-4c53-a3ee-12444b168db2	g.chr9:85607825G>C	ENST00000376447.3	-	15	2296	c.2036C>G	c.(2035-2037)gCc>gGc	p.A679G		NM_152573.2	NP_689786.2	Q8IZ41	RASEF_HUMAN	RAS and EF-hand domain containing	679					protein transport|small GTPase mediated signal transduction	perinuclear region of cytoplasm	calcium ion binding|GTP binding			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(4)|liver(1)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						TCTTACCATGGCCAGTTTCTC	0.473													76	156					0	0	1	0	0	C	85607825	G	C	85607825	3	2	338	1	0	0	0	0	1	0	0	0	13120	1203	42	5	198	5	RASEF	9	85607825	Missense_Mutation	SNP	G	TCGA-HW-8319-01A-11D-2395-08		85607825	55605606	15	31033											
ZNF189	7743	broad.mit.edu	37	9	104170609	104170609	+	Missense_Mutation	SNP	C	C	T			TCGA-HW-8319-01A-11D-2395-08	TCGA-HW-8319-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb65935e-13c0-445a-aa77-e8dde888957e	cc240084-66ac-4c53-a3ee-12444b168db2	g.chr9:104170609C>T	ENST00000374861.3	+	3	801	c.517C>T	c.(517-519)Cgc>Tgc	p.R173C	ZNF189_ENST00000259395.4_Missense_Mutation_p.R145C|ZNF189_ENST00000339664.2_Missense_Mutation_p.R187C	NM_001278231.1|NM_001278232.1|NM_003452.2	NP_001265160.1|NP_001265161.1|NP_003443.2	O75820	ZN189_HUMAN	zinc finger protein 189	187					negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	26		Acute lymphoblastic leukemia(62;0.0559)				AAGTTTTAGTCGCAGTTCATT	0.413													37	107					0	0	1	0	0	T	104170609	C	T	104170609	3	4	338	1	0	0	0	0	1	0	0	0	17812	884	31	1	569	1	ZNF189	9	104170609	Missense_Mutation	SNP	C	TCGA-HW-8319-01A-11D-2395-08	18562784	104170609	37042822	16	31034											
CAMSAP1	157922	broad.mit.edu	37	9	138713009	138713009	+	Silent	SNP	G	G	A			TCGA-HW-8319-01A-11D-2395-08	TCGA-HW-8319-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb65935e-13c0-445a-aa77-e8dde888957e	cc240084-66ac-4c53-a3ee-12444b168db2	g.chr9:138713009G>A	ENST00000389532.4	-	11	3562	c.3498C>T	c.(3496-3498)ttC>ttT	p.F1166F	CAMSAP1_ENST00000312405.6_Silent_p.F888F|CAMSAP1_ENST00000483991.1_5'UTR|CAMSAP1_ENST00000409386.3_Silent_p.F1177F	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein 1	1166						cytoplasm|microtubule				breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		TGTAACTGTCGAAGAGACACT	0.567													105	108					0	0	1	0	0	A	138713009	G	A	138713009	2	1	338	1	0	0	0	0	0	0	0	1	2629	1049	37	1		1	CAMSAP1	9	138713009	Silent	SNP	G	TCGA-HW-8319-01A-11D-2395-08	34542400	138713009	2500422	17	31035											
MPP7	143098	broad.mit.edu	37	10	28345529	28345529	+	Silent	SNP	T	T	C			TCGA-HW-8319-01A-11D-2395-08	TCGA-HW-8319-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb65935e-13c0-445a-aa77-e8dde888957e	cc240084-66ac-4c53-a3ee-12444b168db2	g.chr10:28345529T>C	ENST00000337532.5	-	17	1707	c.1431A>G	c.(1429-1431)ctA>ctG	p.L477L	MPP7_ENST00000375719.3_Silent_p.L477L|MPP7_ENST00000445954.2_3'UTR|MPP7_ENST00000540098.1_Silent_p.L477L|MPP7_ENST00000375732.1_Silent_p.L477L	NM_173496.3	NP_775767.2	Q5T2T1	MPP7_HUMAN	membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7)	477	Guanylate kinase-like.				establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly	MPP7-DLG1-LIN7 complex|tight junction	protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	22						GCTTAAATTCTAGTGTCCTTA	0.333													49	49					0	0	1	0	0	C	28345529	T	C	28345529	2	2	338	1	0	0	0	0	0	0	0	1	9788	1509	53	3		3	MPP7	10	28345529	Silent	SNP	T	TCGA-HW-8319-01A-11D-2395-08		28345529	107189218	18	31036											
DMBT1	1755	broad.mit.edu	37	10	124348622	124348622	+	Missense_Mutation	SNP	C	C	T			TCGA-HW-8319-01A-11D-2395-08	TCGA-HW-8319-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb65935e-13c0-445a-aa77-e8dde888957e	cc240084-66ac-4c53-a3ee-12444b168db2	g.chr10:124348622C>T	ENST00000368909.3	+	17	2052	c.1946C>T	c.(1945-1947)aCg>aTg	p.T649M	DMBT1_ENST00000344338.3_Missense_Mutation_p.T639M|DMBT1_ENST00000368955.3_Missense_Mutation_p.T639M|DMBT1_ENST00000330163.4_Intron|DMBT1_ENST00000338354.3_Missense_Mutation_p.T649M|DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000368956.2_Intron	NM_007329.2	NP_015568.2	Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	649	SRCR 5.		T -> M.		epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				GGCTGGGCCACGTCAGCCCCA	0.612													12	194					0	0	1	0	0	T	124348622	C	T	124348622	3	4	338	1	0	0	0	0	1	0	0	0	4605	536	19	1	2012	1	DMBT1	10	124348622	Missense_Mutation	SNP	C	TCGA-HW-8319-01A-11D-2395-08	96003093	124348622	11186125	19	31037											
OR52I2	143502	broad.mit.edu	37	11	4608789	4608789	+	Missense_Mutation	SNP	C	C	G			TCGA-HW-8319-01A-11D-2395-08	TCGA-HW-8319-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb65935e-13c0-445a-aa77-e8dde888957e	cc240084-66ac-4c53-a3ee-12444b168db2	g.chr11:4608789C>G	ENST00000312614.4	+	1	769	c.747C>G	c.(745-747)atC>atG	p.I249M		NM_001005170.2	NP_001005170.1	Q8NH67	O52I2_HUMAN	olfactory receptor, family 52, subfamily I, member 2	249					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|pancreas(1)|skin(1)	19		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		CCTCCTATATCTTAATTCTCA	0.488													64	44					0	0	1	0	0	G	4608789	C	G	4608789	3	3	338	1	0	0	0	0	1	0	0	0	11169	903	32	4	749	4	OR52I2	11	4608789	Missense_Mutation	SNP	C	TCGA-HW-8319-01A-11D-2395-08		4608789	130397727	20	31038											
OR51L1	119682	broad.mit.edu	37	11	5021019	5021019	+	Silent	SNP	T	T	C			TCGA-HW-8319-01A-11D-2395-08	TCGA-HW-8319-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb65935e-13c0-445a-aa77-e8dde888957e	cc240084-66ac-4c53-a3ee-12444b168db2	g.chr11:5021019T>C	ENST00000321543.1	+	1	807	c.807T>C	c.(805-807)caT>caC	p.H269H		NM_001004755.1	NP_001004755.1	Q8NGJ5	O51L1_HUMAN	olfactory receptor, family 51, subfamily L, member 1	269					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(19)|skin(2)|stomach(1)	31		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		TTGGGAAGCATCTGTCTCCCA	0.463													5	34					0	0	1	0	0	C	5021019	T	C	5021019	2	2	338	1	0	0	0	0	0	0	0	1	11150	1432	50	3		3	OR51L1	11	5021019	Silent	SNP	T	TCGA-HW-8319-01A-11D-2395-08	412230	5021019	129985497	21	31039											
MRGPRX3	117195	broad.mit.edu	37	11	18159642	18159642	+	Missense_Mutation	SNP	C	C	T			TCGA-HW-8319-01A-11D-2395-08	TCGA-HW-8319-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb65935e-13c0-445a-aa77-e8dde888957e	cc240084-66ac-4c53-a3ee-12444b168db2	g.chr11:18159642C>T	ENST00000396275.2	+	3	1254	c.893C>T	c.(892-894)aCg>aTg	p.T298M		NM_054031.3	NP_473372.3	Q96LB0	MRGX3_HUMAN	MAS-related GPR, member X3	298						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.T298M(1)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						CTGCAGGACACGCCTGAGGTG	0.562													28	11					0	0	1	0	0	T	18159642	C	T	18159642	3	4	338	1	0	0	0	0	1	0	0	0	9817	536	19	1	895	1	MRGPRX3	11	18159642	Missense_Mutation	SNP	C	TCGA-HW-8319-01A-11D-2395-08	13138623	18159642	116846874	22	31040											
OR9G4	283189	broad.mit.edu	37	11	56510829	56510829	+	Silent	SNP	G	G	A	rs149257582		TCGA-HW-8319-01A-11D-2395-08	TCGA-HW-8319-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb65935e-13c0-445a-aa77-e8dde888957e	cc240084-66ac-4c53-a3ee-12444b168db2	g.chr11:56510829G>A	ENST00000302957.3	-	1	458	c.459C>T	c.(457-459)acC>acT	p.T153T		NM_001005284.1	NP_001005284.1	Q8NGQ1	OR9G4_HUMAN	olfactory receptor, family 9, subfamily G, member 4	153					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						TACAGAGGGCGGTGGACATGG	0.478													13	175					0	0	1	0	0	A	56510829	G	A	56510829	2	1	338	1	0	0	0	0	0	0	0	1	11298	1103	39	1		1	OR9G4	11	56510829	Silent	SNP	G	TCGA-HW-8319-01A-11D-2395-08	38351187	56510829	78495687	23	31041											
SH2B3	10019	broad.mit.edu	37	12	111885310	111885310	+	Missense_Mutation	SNP	G	G	A	rs72650673	byFrequency	TCGA-HW-8319-01A-11D-2395-08	TCGA-HW-8319-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb65935e-13c0-445a-aa77-e8dde888957e	cc240084-66ac-4c53-a3ee-12444b168db2	g.chr12:111885310G>A	ENST00000341259.2	+	6	1555	c.1198G>A	c.(1198-1200)Gaa>Aaa	p.E400K	SH2B3_ENST00000538307.1_Missense_Mutation_p.E198K	NM_005475.2	NP_005466.1	Q9UQQ2	SH2B3_HUMAN	SH2B adaptor protein 3	400	SH2.				blood coagulation	cytosol	signal transducer activity			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	10						GCGGCGTGGGGAATACGTGCT	0.632													5	93					0	0	1	0	0	A	111885310	G	A	111885310	3	1	338	1	0	0	0	0	1	0	0	0	14283	1175	41	2	1216	2	SH2B3	12	111885310	Missense_Mutation	SNP	G	TCGA-HW-8319-01A-11D-2395-08		111885310	21966585	24	31042											
AKAP5	9495	broad.mit.edu	37	14	64936370	64936374	+	Frame_Shift_Del	DEL	AATAA	AATAA	-			TCGA-HW-8319-01A-11D-2395-08	TCGA-HW-8319-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb65935e-13c0-445a-aa77-e8dde888957e	cc240084-66ac-4c53-a3ee-12444b168db2	g.chr14:64936370_64936374delAATAA	ENST00000394718.4	+	2	1636_1640	c.1258_1262delAATAA	c.(1258-1263)aataaafs	p.NK420fs	ZBTB25_ENST00000555220.1_Intron|ZBTB25_ENST00000555424.1_Intron|AKAP5_ENST00000320636.5_Frame_Shift_Del_p.NK420fs	NM_004857.3	NP_004848.3	P24588	AKAP5_HUMAN	A kinase (PRKA) anchor protein 5						energy reserve metabolic process|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting|regulation of insulin secretion|signal transduction|synaptic transmission	cytosol	adenylate cyclase binding|calmodulin binding			endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|stomach(1)	13				all cancers(60;0.00749)|OV - Ovarian serous cystadenocarcinoma(108;0.0095)|BRCA - Breast invasive adenocarcinoma(234;0.0449)		CTCTGATGATAATAAAATAAACAAT	0.341													21	86	---	---	---	---						-	64936374	AATAA	-	64936370	7	5	338	1	0	1	0	1	0	0	0	0	451	362	13	0	1260	0	AKAP5	14	64936370	Frame_Shift_Del	DEL	AATAA	TCGA-HW-8319-01A-11D-2395-08		64936370	42413170	25	31043											
PTGR2	145482	broad.mit.edu	37	14	74347933	74347933	+	Missense_Mutation	SNP	A	A	G			TCGA-HW-8319-01A-11D-2395-08	TCGA-HW-8319-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb65935e-13c0-445a-aa77-e8dde888957e	cc240084-66ac-4c53-a3ee-12444b168db2	g.chr14:74347933A>G	ENST00000555661.1	+	8	1022	c.877A>G	c.(877-879)Aaa>Gaa	p.K293E	PTGR2_ENST00000553813.1_Missense_Mutation_p.K159E|RP5-1021I20.4_ENST00000556551.2_Missense_Mutation_p.K223E|PTGR2_ENST00000555228.1_Missense_Mutation_p.K293E|PTGR2_ENST00000267568.4_Missense_Mutation_p.K293E			Q8N8N7	PTGR2_HUMAN	prostaglandin reductase 2	293					prostaglandin metabolic process		15-oxoprostaglandin 13-oxidase activity|zinc ion binding			NS(1)|large_intestine(3)|lung(2)|prostate(1)|skin(2)	9						ATTAAATTATAAAGACAAATT	0.358													48	55					0	0	1	0	0	G	74347933	A	G	74347933	3	3	338	1	0	0	0	0	1	0	0	0	12804	363	13	3	903	3	PTGR2	14	74347933	Missense_Mutation	SNP	A	TCGA-HW-8319-01A-11D-2395-08	9411563	74347933	33001607	26	31044											
VASH1	22846	broad.mit.edu	37	14	77239567	77239567	+	Silent	SNP	A	A	G	rs2075772	by1000genomes	TCGA-HW-8319-01A-11D-2395-08	TCGA-HW-8319-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb65935e-13c0-445a-aa77-e8dde888957e	cc240084-66ac-4c53-a3ee-12444b168db2	g.chr14:77239567A>G	ENST00000554237.1	+	4	1036	c.543A>G	c.(541-543)tcA>tcG	p.S181S	VASH1_ENST00000556038.1_Intron|VASH1_ENST00000167106.4_Intron			Q7L8A9	VASH1_HUMAN	vasohibin 1	0					cell cycle arrest|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of endothelial cell proliferation	endoplasmic reticulum|extracellular space		p.S181S(1)		breast(2)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)|urinary_tract(3)	10			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0283)		ATCCTTCCTCACCTGAAGGGG	0.582													5	38					0	0	1	0	0	G	77239567	A	G	77239567	2	3	338	1	0	0	0	0	0	0	0	1	17185	174	6	3		3	VASH1	14	77239567	Silent	SNP	A	TCGA-HW-8319-01A-11D-2395-08	2891634	77239567	30109973	27	31045											
ISLR	3671	broad.mit.edu	37	15	74467824	74467824	+	Missense_Mutation	SNP	G	G	A			TCGA-HW-8319-01A-11D-2395-08	TCGA-HW-8319-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb65935e-13c0-445a-aa77-e8dde888957e	cc240084-66ac-4c53-a3ee-12444b168db2	g.chr15:74467824G>A	ENST00000249842.3	+	2	982	c.625G>A	c.(625-627)Gcc>Acc	p.A209T	ISLR_ENST00000395118.1_Missense_Mutation_p.A209T|RP11-665J16.1_ENST00000561647.1_RNA	NM_005545.3	NP_005536.1	O14498	ISLR_HUMAN	immunoglobulin superfamily containing leucine-rich repeat	209	LRRCT.				cell adhesion	extracellular region				central_nervous_system(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	20						GGACAACATCGCCTGCACCTC	0.652													12	48					0	0	1	0	0	A	74467824	G	A	74467824	3	1	338	1	0	0	0	0	1	0	0	0	7902	1087	38	1	627	1	ISLR	15	74467824	Missense_Mutation	SNP	G	TCGA-HW-8319-01A-11D-2395-08		74467824	28063568	28	31046											
CRAMP1L	57585	broad.mit.edu	37	16	1706072	1706072	+	Silent	SNP	C	C	T			TCGA-HW-8319-01A-11D-2395-08	TCGA-HW-8319-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb65935e-13c0-445a-aa77-e8dde888957e	cc240084-66ac-4c53-a3ee-12444b168db2	g.chr16:1706072C>T	ENST00000397412.3	+	10	1413	c.1314C>T	c.(1312-1314)gaC>gaT	p.D438D	CRAMP1L_ENST00000436138.3_Silent_p.D435D|CRAMP1L_ENST00000293925.5_Silent_p.D438D|LA16c-431H6.6_ENST00000454337.1_Intron|CRAMP1L_ENST00000262317.4_Intron			Q96RY5	CRML_HUMAN	Crm, cramped-like (Drosophila)	438						nucleus	DNA binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)	22						GTGCCAAGGACGCCCACGTGC	0.706													10	16					0	0	1	0	0	T	1706072	C	T	1706072	2	4	338	1	0	0	0	0	0	0	0	1	3869	535	19	1		1	CRAMP1L	16	1706072	Silent	SNP	C	TCGA-HW-8319-01A-11D-2395-08		1706072	88648681	29	31047											
TP53	7157	broad.mit.edu	37	17	7577538	7577538	+	Missense_Mutation	SNP	C	C	T	rs11540652		TCGA-HW-8319-01A-11D-2395-08	TCGA-HW-8319-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb65935e-13c0-445a-aa77-e8dde888957e	cc240084-66ac-4c53-a3ee-12444b168db2	g.chr17:7577538C>T	ENST00000420246.2	-	7	875	c.743G>A	c.(742-744)cGg>cAg	p.R248Q	TP53_ENST00000269305.4_Missense_Mutation_p.R248Q|TP53_ENST00000455263.2_Missense_Mutation_p.R248Q|TP53_ENST00000413465.2_Missense_Mutation_p.R248Q|TP53_ENST00000359597.4_Missense_Mutation_p.R248Q|TP53_ENST00000445888.2_Missense_Mutation_p.R248Q	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	248	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R248Q(580)|p.R248L(75)|p.R248P(19)|p.R155Q(18)|p.0?(8)|p.?(5)|p.R155L(3)|p.R155P(2)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248fs*>39(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(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)		GATGGGCCTCCGGTTCATGCC	0.572	R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	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)			24	36					0	0	1	0	0	T	7577538	C	T	7577538	3	4	338	1	0	0	0	0	1	0	0	0	16442	652	23	1	547	1	TP53	17	7577538	Missense_Mutation	SNP	C	TCGA-HW-8319-01A-11D-2395-08		7577538	73617672	30	31048											
TP53	7157	broad.mit.edu	37	17	7578263	7578263	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HW-8319-01A-11D-2395-08	TCGA-HW-8319-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb65935e-13c0-445a-aa77-e8dde888957e	cc240084-66ac-4c53-a3ee-12444b168db2	g.chr17:7578263G>A	ENST00000420246.2	-	6	718	c.586C>T	c.(586-588)Cga>Tga	p.R196*	TP53_ENST00000269305.4_Nonsense_Mutation_p.R196*|TP53_ENST00000455263.2_Nonsense_Mutation_p.R196*|TP53_ENST00000413465.2_Nonsense_Mutation_p.R196*|TP53_ENST00000574684.1_Intron|TP53_ENST00000359597.4_Nonsense_Mutation_p.R196*|TP53_ENST00000445888.2_Nonsense_Mutation_p.R196*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	196	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (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.R196*(167)|p.R64*(14)|p.R103*(14)|p.0?(8)|p.R196fs*51(7)|p.?(5)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.R196R(2)|p.I195fs*50(1)|p.R64fs*>27(1)|p.R103fs*51(1)|p.P191fs*6(1)|p.I195_G199delIRVEG(1)|p.P98_E105>Q(1)|p.I195fs*12(1)|p.P59_E66>Q(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)		CCTTCCACTCGGATAAGATGC	0.552		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)			24	22					0	0	1	0	0	A	7578263	G	A	7578263	4	1	338	1	0	0	0	0	0	1	0	0	16442	1124	39	1	708	1	TP53	17	7578263	Nonsense_Mutation	SNP	G	TCGA-HW-8319-01A-11D-2395-08	725	7578263	73616947	31	31049											
CANT1	124583	broad.mit.edu	37	17	76991172	76991172	+	Missense_Mutation	SNP	C	C	T			TCGA-HW-8319-01A-11D-2395-08	TCGA-HW-8319-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb65935e-13c0-445a-aa77-e8dde888957e	cc240084-66ac-4c53-a3ee-12444b168db2	g.chr17:76991172C>T	ENST00000302345.2	-	3	1257	c.763G>A	c.(763-765)Ggc>Agc	p.G255S	CANT1_ENST00000591773.1_Missense_Mutation_p.G255S|CANT1_ENST00000392446.5_Missense_Mutation_p.G255S	NM_001159773.1|NM_138793.3	NP_001153245.1|NP_620148.1	Q8WVQ1	CANT1_HUMAN	calcium activated nucleotidase 1	255					positive regulation of I-kappaB kinase/NF-kappaB cascade	endoplasmic reticulum membrane|Golgi cisterna membrane|integral to membrane	calcium ion binding|nucleoside-diphosphatase activity|signal transducer activity		CANT1/ETV4(3)	cervix(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)	16			BRCA - Breast invasive adenocarcinoma(99;0.0362)|OV - Ovarian serous cystadenocarcinoma(97;0.139)			TCCACGCTGCCCTTGTAGCCC	0.652			T	ETV4	prostate								3	3					0	0	1	0	0	T	76991172	C	T	76991172	3	4	338	1	0	0	0	0	1	0	0	0	2635	623	22	2	450	2	CANT1	17	76991172	Missense_Mutation	SNP	C	TCGA-HW-8319-01A-11D-2395-08	69412909	76991172	4204038	32	31050											
ZC3H4	23211	broad.mit.edu	37	19	47570840	47570840	+	Silent	SNP	G	G	A			TCGA-HW-8319-01A-11D-2395-08	TCGA-HW-8319-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb65935e-13c0-445a-aa77-e8dde888957e	cc240084-66ac-4c53-a3ee-12444b168db2	g.chr19:47570840G>A	ENST00000253048.5	-	15	2722	c.2685C>T	c.(2683-2685)gcC>gcT	p.A895A	ZC3H4_ENST00000594019.1_Intron	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	895							nucleic acid binding|zinc ion binding			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		AGGTGGGCAGGGCGCGAGCCA	0.701													13	19					0	0	1	0	0	A	47570840	G	A	47570840	2	1	338	1	0	0	0	0	0	0	0	1	17629	1219	43	2		2	ZC3H4	19	47570840	Silent	SNP	G	TCGA-HW-8319-01A-11D-2395-08		47570840	11558143	33	31051											
MYH7B	57644	broad.mit.edu	37	20	33581234	33581234	+	Missense_Mutation	SNP	G	G	A			TCGA-HW-8319-01A-11D-2395-08	TCGA-HW-8319-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb65935e-13c0-445a-aa77-e8dde888957e	cc240084-66ac-4c53-a3ee-12444b168db2	g.chr20:33581234G>A	ENST00000262873.7	+	24	2623	c.2531G>A	c.(2530-2532)cGc>cAc	p.R844H		NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	802						membrane|myosin filament	actin binding|ATP binding|motor activity			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			AGCCGTGGCCGCCTCATGCGC	0.672													14	18					0	0	1	0	0	A	33581234	G	A	33581234	3	1	338	1	0	0	0	0	1	0	0	0	10088	1087	38	1	2625	1	MYH7B	20	33581234	Missense_Mutation	SNP	G	TCGA-HW-8319-01A-11D-2395-08		33581234	29444286	34	31052											
DGCR2	9993	broad.mit.edu	37	22	19026633	19026633	+	Splice_Site	SNP	G	G	A	rs146027196		TCGA-HW-8319-01A-11D-2395-08	TCGA-HW-8319-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb65935e-13c0-445a-aa77-e8dde888957e	cc240084-66ac-4c53-a3ee-12444b168db2	g.chr22:19026633G>A	ENST00000263196.7	-	10	1645	c.1398C>T	c.(1396-1398)gaC>gaT	p.D466D	DGCR2_ENST00000537045.1_Splice_Site_p.D425D|DGCR2_ENST00000545799.1_3'UTR	NM_001184781.1|NM_005137.2	NP_001171710.1|NP_005128.1	P98153	IDD_HUMAN	DiGeorge syndrome critical region gene 2	466					cell adhesion|organ morphogenesis	integral to membrane	receptor activity|sugar binding	p.D466D(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)	18	Colorectal(54;0.0993)					AAGCATCATCGTCTGCAGGAA	0.622													12	31					0	0	1	0	0	A	19026633	G	A	19026633	5	1	338	1	0	0	0	0	0	0	1	0	4489	1159	40	1	258	1	DGCR2	22	19026633	Splice_Site	SNP	G	TCGA-HW-8319-01A-11D-2395-08		19026633	32277933	35	31053											
ATRX	546	broad.mit.edu	37	X	76940431	76940431	+	Splice_Site	SNP	C	C	T			TCGA-HW-8319-01A-11D-2395-08	TCGA-HW-8319-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb65935e-13c0-445a-aa77-e8dde888957e	cc240084-66ac-4c53-a3ee-12444b168db2	g.chrX:76940431C>T	ENST00000373344.5	-	8	876	c.662G>A	c.(661-663)aGg>aAg	p.R221K	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Splice_Site_p.R183K	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	221	ADD.				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)	TATTACCTACCTACATTGTTC	0.328			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						36	62					0	0	1	0	0	T	76940431	C	T	76940431	5	4	338	1	0	0	0	0	0	0	1	0	1206	695	24	2	6928	2	ATRX	23	76940431	Splice_Site	SNP	C	TCGA-HW-8319-01A-11D-2395-08		76940431	78330129	36	31054											
PLS3	5358	broad.mit.edu	37	X	114882253	114882253	+	Missense_Mutation	SNP	T	T	G			TCGA-HW-8319-01A-11D-2395-08	TCGA-HW-8319-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb65935e-13c0-445a-aa77-e8dde888957e	cc240084-66ac-4c53-a3ee-12444b168db2	g.chrX:114882253T>G	ENST00000420625.2	+	15	1810	c.1676T>G	c.(1675-1677)aTt>aGt	p.I559S	PLS3_ENST00000539310.1_Missense_Mutation_p.I514S|PLS3_ENST00000543070.1_Missense_Mutation_p.I153S|PLS3_ENST00000289290.3_Missense_Mutation_p.I523S|PLS3_ENST00000355899.3_Missense_Mutation_p.I559S|PLS3_ENST00000537301.1_Missense_Mutation_p.I546S	NM_001136025.3|NM_001172335.1|NM_001282338.1	NP_001129497.1|NP_001165806.1|NP_001269267.1	P13797	PLST_HUMAN	plastin 3	559	Actin-binding 2.|CH 4.					cytoplasm	actin binding|calcium ion binding			NS(2)|breast(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)	26						GTGGATTTAATTGATGCCATC	0.403													61	94					0	0	1	0	0	G	114882253	T	G	114882253	3	3	338	1	0	0	0	0	1	0	0	0	12156	1493	52	4	1730	4	PLS3	23	114882253	Missense_Mutation	SNP	T	TCGA-HW-8319-01A-11D-2395-08	37941822	114882253	40388307	37	31055											
ZNF275	10838	broad.mit.edu	37	X	152612569	152612569	+	Silent	SNP	G	G	A			TCGA-HW-8319-01A-11D-2395-08	TCGA-HW-8319-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb65935e-13c0-445a-aa77-e8dde888957e	cc240084-66ac-4c53-a3ee-12444b168db2	g.chrX:152612569G>A	ENST00000421401.3	+	4	603	c.426G>A	c.(424-426)gcG>gcA	p.A142A	ZNF275_ENST00000440091.1_Silent_p.A172A|ZNF275_ENST00000370251.3_Silent_p.A142A|ZNF275_ENST00000370249.2_Silent_p.A89A			A6NFS0	A6NFS0_HUMAN	zinc finger protein 275	142						intracellular	nucleic acid binding|zinc ion binding			endometrium(5)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	16	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GGGGGGTGGCGGAGTTTAATG	0.607													16	18					0	0	1	0	0	A	152612569	G	A	152612569	2	1	338	1	0	0	0	0	0	0	0	1	17868	1103	39	1		1	ZNF275	23	152612569	Silent	SNP	G	TCGA-HW-8319-01A-11D-2395-08	37730316	152612569	2657991	38	31056											
SLC2A7	155184	broad.mit.edu	37	1	9085133	9085133	+	Splice_Site	SNP	G	G	A			TCGA-HW-8320-01A-11D-2395-08	TCGA-HW-8320-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25810971-a72b-4635-a466-98bfda6e656a	e934d4ae-b158-4ffd-8151-ee7d7ded6e56	g.chr1:9085133G>A	ENST00000400906.1	-	2	51	c.52C>T	c.(52-54)Cgg>Tgg	p.R18W		NM_207420.2	NP_997303.2	Q6PXP3	GTR7_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 7	18						integral to membrane|plasma membrane	sugar transmembrane transporter activity	p.R18W(1)		NS(1)|breast(1)|endometrium(4)|large_intestine(10)|lung(4)|prostate(2)|skin(2)	24	Ovarian(185;0.112)|all_lung(157;0.185)	all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.04e-07)|COAD - Colon adenocarcinoma(227;7.66e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642)		GGCTGGAGCCGCTGTAGGAGA	0.652													6	44					0	0	1	0	0	A	9085133	G	A	9085133	5	1	339	1	0	0	0	0	0	0	1	0	14605	1101	38	1	1530	1	SLC2A7	1	9085133	Splice_Site	SNP	G	TCGA-HW-8320-01A-11D-2395-08		9085133	240165488	1	31057											
MED18	54797	broad.mit.edu	37	1	28661302	28661302	+	Missense_Mutation	SNP	C	C	T			TCGA-HW-8320-01A-11D-2395-08	TCGA-HW-8320-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25810971-a72b-4635-a466-98bfda6e656a	e934d4ae-b158-4ffd-8151-ee7d7ded6e56	g.chr1:28661302C>T	ENST00000373842.4	+	3	657	c.448C>T	c.(448-450)Cgc>Tgc	p.R150C	MED18_ENST00000398997.2_Missense_Mutation_p.R150C|MED18_ENST00000479574.1_3'UTR	NM_001127350.1|NM_017638.2	NP_001120822.1|NP_060108.2	Q9BUE0	MED18_HUMAN	mediator complex subunit 18	150					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex	identical protein binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7		Colorectal(325;0.000147)|Lung NSC(340;0.000818)|all_lung(284;0.000996)|Renal(390;0.00357)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|all_neural(195;0.0557)|Ovarian(437;0.113)		OV - Ovarian serous cystadenocarcinoma(117;2.36e-22)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0141)|READ - Rectum adenocarcinoma(331;0.0649)		CAAGATTTTCCGCATCCTGGT	0.502													4	84					0	0	1	0	0	T	28661302	C	T	28661302	3	4	339	1	0	0	0	0	1	0	0	0	9486	652	23	1	454	1	MED18	1	28661302	Missense_Mutation	SNP	C	TCGA-HW-8320-01A-11D-2395-08	19576169	28661302	220589319	2	31058											
CLCA1	1179	broad.mit.edu	37	1	86957002	86957002	+	Missense_Mutation	SNP	C	C	T			TCGA-HW-8320-01A-11D-2395-08	TCGA-HW-8320-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25810971-a72b-4635-a466-98bfda6e656a	e934d4ae-b158-4ffd-8151-ee7d7ded6e56	g.chr1:86957002C>T	ENST00000234701.3	+	10	1763	c.1412C>T	c.(1411-1413)gCt>gTt	p.A471V	CLCA1_ENST00000394711.1_Missense_Mutation_p.A471V			A8K7I4	CLCA1_HUMAN	chloride channel accessory 1	471	VWFA.				calcium ion transport	extracellular space|integral to plasma membrane	chloride channel activity			NS(1)|breast(3)|endometrium(1)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Lung NSC(277;0.239)		all cancers(265;0.0249)|Epithelial(280;0.0476)		CTCATTGATGCTTTTGGGGCC	0.383													5	41					0	0	1	0	0	T	86957002	C	T	86957002	3	4	339	1	0	0	0	0	1	0	0	0	3480	797	28	2	1446	2	CLCA1	1	86957002	Missense_Mutation	SNP	C	TCGA-HW-8320-01A-11D-2395-08	58295700	86957002	162293619	3	31059											
HMCN1	83872	broad.mit.edu	37	1	186056428	186056428	+	Silent	SNP	C	C	T			TCGA-HW-8320-01A-11D-2395-08	TCGA-HW-8320-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25810971-a72b-4635-a466-98bfda6e656a	e934d4ae-b158-4ffd-8151-ee7d7ded6e56	g.chr1:186056428C>T	ENST00000271588.4	+	59	9355	c.9126C>T	c.(9124-9126)ggC>ggT	p.G3042G	HMCN1_ENST00000367492.2_Silent_p.G3042G	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	3042	Ig-like C2-type 28.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						ATCAAGCTGGCGAAAGCAAGA	0.348													39	39					0	0	1	0	0	T	186056428	C	T	186056428	2	4	339	1	0	0	0	0	0	0	0	1	7261	755	27	1		1	HMCN1	1	186056428	Silent	SNP	C	TCGA-HW-8320-01A-11D-2395-08	99099426	186056428	63194193	4	31060											
CD55	1604	broad.mit.edu	37	1	207500166	207500166	+	Silent	SNP	G	G	A	rs146687590	byFrequency	TCGA-HW-8320-01A-11D-2395-08	TCGA-HW-8320-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25810971-a72b-4635-a466-98bfda6e656a	e934d4ae-b158-4ffd-8151-ee7d7ded6e56	g.chr1:207500166G>A	ENST00000367064.3	+	5	906	c.648G>A	c.(646-648)ccG>ccA	p.P216P	CD55_ENST00000391921.4_Silent_p.P152P|CD55_ENST00000367065.5_Silent_p.P216P|CD55_ENST00000391920.4_Silent_p.P216P|CD55_ENST00000314754.8_Silent_p.P216P|CD55_ENST00000465534.1_3'UTR|CD55_ENST00000367067.4_3'UTR|CD55_ENST00000367063.2_Silent_p.P216P|CD55_ENST00000367062.4_Silent_p.P216P	NM_000574.3	NP_000565.1	P08174	DAF_HUMAN	CD55 molecule, decay accelerating factor for complement (Cromer blood group)	216	Sushi 3.				complement activation, classical pathway|elevation of cytosolic calcium ion concentration|innate immune response|respiratory burst	anchored to membrane|extracellular region|integral to plasma membrane|membrane raft|soluble fraction	receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	16					Chloramphenicol(DB00446)	GGAGTGACCCGTTGCCAGAGT	0.398													4	92					0	0	1	0	0	A	207500166	G	A	207500166	2	1	339	1	0	0	0	0	0	0	0	1	3046	1132	40	1		1	CD55	1	207500166	Silent	SNP	G	TCGA-HW-8320-01A-11D-2395-08	21443738	207500166	41750455	5	31061											
USH2A	7399	broad.mit.edu	37	1	216062131	216062131	+	Silent	SNP	G	G	A			TCGA-HW-8320-01A-11D-2395-08	TCGA-HW-8320-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25810971-a72b-4635-a466-98bfda6e656a	e934d4ae-b158-4ffd-8151-ee7d7ded6e56	g.chr1:216062131G>A	ENST00000366943.2	-	41	8246	c.7860C>T	c.(7858-7860)ctC>ctT	p.L2620L	USH2A_ENST00000307340.3_Silent_p.L2620L|RP5-1111A8.3_ENST00000414995.1_RNA			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2620					maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GTGCCCCTGGGAGTGTCCATA	0.502										HNSCC(13;0.011)			21	47					0	0	1	0	0	A	216062131	G	A	216062131	2	1	339	1	0	0	0	0	0	0	0	1	17096	1161	41	2		2	USH2A	1	216062131	Silent	SNP	G	TCGA-HW-8320-01A-11D-2395-08	8561965	216062131	33188490	6	31062											
OR2T3	343173	broad.mit.edu	37	1	248637583	248637583	+	Missense_Mutation	SNP	A	A	G			TCGA-HW-8320-01A-11D-2395-08	TCGA-HW-8320-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25810971-a72b-4635-a466-98bfda6e656a	e934d4ae-b158-4ffd-8151-ee7d7ded6e56	g.chr1:248637583A>G	ENST00000359594.2	+	1	957	c.932A>G	c.(931-933)cAg>cGg	p.Q311R		NM_001005495.1	NP_001005495.1	Q8NH03	OR2T3_HUMAN	olfactory receptor, family 2, subfamily T, member 3	311					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3)	31	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			AGCATGATGCAGTCAAGAATG	0.473													6	259					0	0	1	0	0	G	248637583	A	G	248637583	3	3	339	1	0	0	0	0	1	0	0	0	11071	188	7	3	934	3	OR2T3	1	248637583	Missense_Mutation	SNP	A	TCGA-HW-8320-01A-11D-2395-08	32575452	248637583	613038	7	31063											
SNTG2	54221	broad.mit.edu	37	2	1079270	1079270	+	Missense_Mutation	SNP	C	C	G			TCGA-HW-8320-01A-11D-2395-08	TCGA-HW-8320-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25810971-a72b-4635-a466-98bfda6e656a	e934d4ae-b158-4ffd-8151-ee7d7ded6e56	g.chr2:1079270C>G	ENST00000308624.5	+	2	268	c.139C>G	c.(139-141)Ctg>Gtg	p.L47V	SNTG2_ENST00000407292.1_Missense_Mutation_p.L47V	NM_018968.3	NP_061841.2	Q9NY99	SNTG2_HUMAN	syntrophin, gamma 2	47					central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	actin binding|PDZ domain binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		CCGGCTGAAGCTGACGAAAGA	0.463													4	92					0	0	1	0	0	G	1079270	C	G	1079270	3	3	339	1	0	0	0	0	1	0	0	0	14929	796	28	4	145	4	SNTG2	2	1079270	Missense_Mutation	SNP	C	TCGA-HW-8320-01A-11D-2395-08		1079270	242120103	8	31064											
BIRC6	57448	broad.mit.edu	37	2	32819095	32819095	+	Missense_Mutation	SNP	C	C	T			TCGA-HW-8320-01A-11D-2395-08	TCGA-HW-8320-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25810971-a72b-4635-a466-98bfda6e656a	e934d4ae-b158-4ffd-8151-ee7d7ded6e56	g.chr2:32819095C>T	ENST00000421745.2	+	67	13603	c.13469C>T	c.(13468-13470)gCa>gTa	p.A4490V		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	4490					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					ATAGTTTATGCAGCCACCACC	0.388													4	47					0	0	1	0	0	T	32819095	C	T	32819095	3	4	339	1	0	0	0	0	1	0	0	0	1437	710	25	2	13735	2	BIRC6	2	32819095	Missense_Mutation	SNP	C	TCGA-HW-8320-01A-11D-2395-08	31739825	32819095	210380278	9	31065											
KLF7	8609	broad.mit.edu	37	2	207988530	207988530	+	Missense_Mutation	SNP	G	G	T			TCGA-HW-8320-01A-11D-2395-08	TCGA-HW-8320-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25810971-a72b-4635-a466-98bfda6e656a	e934d4ae-b158-4ffd-8151-ee7d7ded6e56	g.chr2:207988530G>T	ENST00000309446.6	-	2	1077	c.701C>A	c.(700-702)tCc>tAc	p.S234Y	KLF7_ENST00000467833.1_Intron|KLF7_ENST00000412414.2_Missense_Mutation_p.S206Y|KLF7_ENST00000423015.1_Intron|KLF7_ENST00000458272.1_Intron|KLF7_ENST00000421199.1_Missense_Mutation_p.S201Y	NM_003709.3	NP_003700.1	O75840	KLF7_HUMAN	Kruppel-like factor 7 (ubiquitous)	234					regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|zinc ion binding			breast(1)|central_nervous_system(1)|large_intestine(3)|liver(1)|lung(4)|skin(1)	11				LUSC - Lung squamous cell carcinoma(261;0.0856)|Lung(261;0.166)|Epithelial(149;0.173)		CTTTAAGTGGGAGCTTTTTGT	0.542													4	115					2.56e-06	2.60267e-06	1	1	0	T	207988530	G	T	207988530	3	4	339	1	0	0	0	0	1	0	0	0	8394	1174	41	5	219	5	KLF7	2	207988530	Missense_Mutation	SNP	G	TCGA-HW-8320-01A-11D-2395-08	175169435	207988530	35210843	10	31066											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-HW-8320-01A-11D-2395-08	TCGA-HW-8320-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25810971-a72b-4635-a466-98bfda6e656a	e934d4ae-b158-4ffd-8151-ee7d7ded6e56	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	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								29	41					0	0	1	0	0	T	209113112	C	T	209113112	3	4	339	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HW-8320-01A-11D-2395-08	1124582	209113112	34086261	11	31067											
ALPPL2	251	broad.mit.edu	37	2	233274354	233274354	+	Silent	SNP	G	G	A			TCGA-HW-8320-01A-11D-2395-08	TCGA-HW-8320-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25810971-a72b-4635-a466-98bfda6e656a	e934d4ae-b158-4ffd-8151-ee7d7ded6e56	g.chr2:233274354G>A	ENST00000295453.3	+	11	1423	c.1371G>A	c.(1369-1371)gcG>gcA	p.A457A		NM_031313.2	NP_112603.2	P10696	PPBN_HUMAN	alkaline phosphatase, placental-like 2	457					phosphorylation	anchored to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			breast(2)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(1)	13		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	Amifostine(DB01143)|Levamisole(DB00848)	AGGACGTGGCGGTGTTCGCGC	0.667													14	15					0	0	1	0	0	A	233274354	G	A	233274354	2	1	339	1	0	0	0	0	0	0	0	1	545	1103	39	1		1	ALPPL2	2	233274354	Silent	SNP	G	TCGA-HW-8320-01A-11D-2395-08	24161242	233274354	9925019	12	31068											
CELSR3	1951	broad.mit.edu	37	3	48699299	48699299	+	Missense_Mutation	SNP	C	C	T			TCGA-HW-8320-01A-11D-2395-08	TCGA-HW-8320-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25810971-a72b-4635-a466-98bfda6e656a	e934d4ae-b158-4ffd-8151-ee7d7ded6e56	g.chr3:48699299C>T	ENST00000544264.1	-	1	1049	c.769G>A	c.(769-771)Gca>Aca	p.A257T	CELSR3_ENST00000164024.4_Missense_Mutation_p.A257T			Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	257					homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GAACCTGATGCAGGAGCTGTC	0.701													10	105					0	0	1	0	0	T	48699299	C	T	48699299	3	4	339	1	0	0	0	0	1	0	0	0	3245	710	25	2	9309	2	CELSR3	3	48699299	Missense_Mutation	SNP	C	TCGA-HW-8320-01A-11D-2395-08		48699299	149323131	13	31069											
VPS8	23355	broad.mit.edu	37	3	184714255	184714255	+	Missense_Mutation	SNP	C	C	T			TCGA-HW-8320-01A-11D-2395-08	TCGA-HW-8320-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25810971-a72b-4635-a466-98bfda6e656a	e934d4ae-b158-4ffd-8151-ee7d7ded6e56	g.chr3:184714255C>T	ENST00000287546.4	+	43	3973	c.3802C>T	c.(3802-3804)Cgc>Tgc	p.R1268C	VPS8_ENST00000437079.3_Missense_Mutation_p.R1268C|VPS8_ENST00000446204.2_Missense_Mutation_p.R1176C|VPS8_ENST00000436792.2_Missense_Mutation_p.R1266C	NM_015303.3	NP_056118.2	Q8N3P4	VPS8_HUMAN	vacuolar protein sorting 8 homolog (S. cerevisiae)	1268							zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22)			GTACAAGAGACGCCAAGAAAT	0.413													8	39					0	0	1	0	0	T	184714255	C	T	184714255	3	4	339	1	0	0	0	0	1	0	0	0	17278	536	19	1	3968	1	VPS8	3	184714255	Missense_Mutation	SNP	C	TCGA-HW-8320-01A-11D-2395-08	136014956	184714255	13308175	14	31070											
TBC1D19	55296	broad.mit.edu	37	4	26640408	26640408	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HW-8320-01A-11D-2395-08	TCGA-HW-8320-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25810971-a72b-4635-a466-98bfda6e656a	e934d4ae-b158-4ffd-8151-ee7d7ded6e56	g.chr4:26640408C>T	ENST00000264866.4	+	6	663	c.385C>T	c.(385-387)Cag>Tag	p.Q129*	TBC1D19_ENST00000511789.1_Nonsense_Mutation_p.Q64*|TBC1D19_ENST00000515568.1_3'UTR	NM_018317.2	NP_060787.2	Q8N5T2	TBC19_HUMAN	TBC1 domain family, member 19	129						intracellular	Rab GTPase activator activity			breast(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	17		Breast(46;0.0503)				AGTTGGAGAACAGAAAGAACT	0.308													22	30					0	0	1	0	0	T	26640408	C	T	26640408	4	4	339	1	0	0	0	0	0	1	0	0	15664	479	17	2	407	2	TBC1D19	4	26640408	Nonsense_Mutation	SNP	C	TCGA-HW-8320-01A-11D-2395-08		26640408	164513868	15	31071											
ENPEP	2028	broad.mit.edu	37	4	111397908	111397908	+	Missense_Mutation	SNP	A	A	G			TCGA-HW-8320-01A-11D-2395-08	TCGA-HW-8320-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25810971-a72b-4635-a466-98bfda6e656a	e934d4ae-b158-4ffd-8151-ee7d7ded6e56	g.chr4:111397908A>G	ENST00000265162.5	+	1	680	c.338A>G	c.(337-339)gAc>gGc	p.D113G		NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	113					cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)	TTGGAGGAGGACACCTACACG	0.622													24	170					0	0	1	0	0	G	111397908	A	G	111397908	3	3	339	1	0	0	0	0	1	0	0	0	5156	275	10	3	340	3	ENPEP	4	111397908	Missense_Mutation	SNP	A	TCGA-HW-8320-01A-11D-2395-08	84757500	111397908	79756368	16	31072											
NPY2R	4887	broad.mit.edu	37	4	156135956	156135956	+	Missense_Mutation	SNP	C	C	T			TCGA-HW-8320-01A-11D-2395-08	TCGA-HW-8320-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25810971-a72b-4635-a466-98bfda6e656a	e934d4ae-b158-4ffd-8151-ee7d7ded6e56	g.chr4:156135956C>T	ENST00000329476.3	+	2	1354	c.865C>T	c.(865-867)Ctt>Ttt	p.L289F	NPY2R_ENST00000506608.1_Missense_Mutation_p.L289F	NM_000910.2	NP_000901.1	P49146	NPY2R_HUMAN	neuropeptide Y receptor Y2	289					cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis	integral to plasma membrane	calcium channel regulator activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1)	36	all_hematologic(180;0.24)	Renal(120;0.0854)				TGCCTTCCAGCTTGCCGTTGA	0.517													10	38					0	0	1	0	0	T	156135956	C	T	156135956	3	4	339	1	0	0	0	0	1	0	0	0	10657	797	28	2	867	2	NPY2R	4	156135956	Missense_Mutation	SNP	C	TCGA-HW-8320-01A-11D-2395-08	44738048	156135956	35018320	17	31073											
PLEKHG4B	153478	broad.mit.edu	37	5	182353	182353	+	Missense_Mutation	SNP	C	C	T			TCGA-HW-8320-01A-11D-2395-08	TCGA-HW-8320-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25810971-a72b-4635-a466-98bfda6e656a	e934d4ae-b158-4ffd-8151-ee7d7ded6e56	g.chr5:182353C>T	ENST00000283426.6	+	18	3781	c.3731C>T	c.(3730-3732)cCa>cTa	p.P1244L		NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4B	1244					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		GAAGATGAGCCAGAGCCAGAA	0.652													7	39					0	0	1	0	0	T	182353	C	T	182353	3	4	339	1	0	0	0	0	1	0	0	0	12120	594	21	2	3801	2	PLEKHG4B	5	182353	Missense_Mutation	SNP	C	TCGA-HW-8320-01A-11D-2395-08		182353	180732907	18	31074											
ADAM28	10863	broad.mit.edu	37	8	24193003	24193003	+	Silent	SNP	C	C	T			TCGA-HW-8320-01A-11D-2395-08	TCGA-HW-8320-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25810971-a72b-4635-a466-98bfda6e656a	e934d4ae-b158-4ffd-8151-ee7d7ded6e56	g.chr8:24193003C>T	ENST00000265769.4	+	14	1526	c.1416C>T	c.(1414-1416)tgC>tgT	p.C472C	RP11-624C23.1_ENST00000519689.1_RNA|ADAM28_ENST00000437154.2_Silent_p.C472C|RP11-624C23.1_ENST00000518988.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000523700.1_RNA|ADAM28_ENST00000397649.3_Silent_p.C219C|ADAM28_ENST00000540823.1_Silent_p.C239C	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28	472	Disintegrin.				proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		AAGATGAGTGCGACCTGCCTG	0.433													8	31					0	0	1	0	0	T	24193003	C	T	24193003	2	4	339	1	0	0	0	0	0	0	0	1	245	776	27	1		1	ADAM28	8	24193003	Silent	SNP	C	TCGA-HW-8320-01A-11D-2395-08		24193003	122171019	19	31075											
ZFHX4	79776	broad.mit.edu	37	8	77616608	77616608	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HW-8320-01A-11D-2395-08	TCGA-HW-8320-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25810971-a72b-4635-a466-98bfda6e656a	e934d4ae-b158-4ffd-8151-ee7d7ded6e56	g.chr8:77616608delC	ENST00000521891.2	+	2	733	c.285delC	c.(283-285)tacfs	p.Y95fs	ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000518282.1_Frame_Shift_Del_p.Y95fs|ZFHX4_ENST00000050961.6_Frame_Shift_Del_p.Y95fs|ZFHX4_ENST00000455469.2_Frame_Shift_Del_p.Y95fs	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	95						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TACAGAAATACATGGAACACC	0.498										HNSCC(33;0.089)			94	165	---	---	---	---						-	77616608	C	-	77616608	7	5	339	1	0	1	0	1	0	0	0	0	17693	489	17	0	287	0	ZFHX4	8	77616608	Frame_Shift_Del	DEL	C	TCGA-HW-8320-01A-11D-2395-08	53423605	77616608	68747414	20	31076											
ANGPT1	284	broad.mit.edu	37	8	108306212	108306212	+	Silent	SNP	A	A	G			TCGA-HW-8320-01A-11D-2395-08	TCGA-HW-8320-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25810971-a72b-4635-a466-98bfda6e656a	e934d4ae-b158-4ffd-8151-ee7d7ded6e56	g.chr8:108306212A>G	ENST00000520734.1	-	5	675	c.390T>C	c.(388-390)cgT>cgC	p.R130R	ANGPT1_ENST00000518386.1_5'UTR|ANGPT1_ENST00000520052.1_Silent_p.R129R			Q15389	ANGP1_HUMAN	angiopoietin 1	330					activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|blood coagulation|cell differentiation|heparin biosynthetic process|leukocyte migration|negative regulation of cell adhesion|negative regulation of endothelial cell apoptosis|negative regulation of vascular permeability|positive chemotaxis|positive regulation of blood vessel endothelial cell migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|positive regulation of receptor internalization|protein localization at cell surface|regulation of satellite cell proliferation|sprouting angiogenesis|Tie receptor signaling pathway	extracellular space|membrane raft|microvillus|plasma membrane	receptor tyrosine kinase binding			NS(1)|breast(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(13)|ovary(4)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	43	Breast(1;5.06e-08)		OV - Ovarian serous cystadenocarcinoma(57;5.53e-09)			TTCCATCTTCACGATGTTGTA	0.343													17	70					0	0	1	0	0	G	108306212	A	G	108306212	2	3	339	1	0	0	0	0	0	0	0	1	606	146	6	3		3	ANGPT1	8	108306212	Silent	SNP	A	TCGA-HW-8320-01A-11D-2395-08	30689604	108306212	38057810	21	31077											
EPPK1	83481	broad.mit.edu	37	8	144940776	144940776	+	Missense_Mutation	SNP	C	C	T			TCGA-HW-8320-01A-11D-2395-08	TCGA-HW-8320-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25810971-a72b-4635-a466-98bfda6e656a	e934d4ae-b158-4ffd-8151-ee7d7ded6e56	g.chr8:144940776C>T	ENST00000525985.1	-	2	6717	c.6646G>A	c.(6646-6648)Gtc>Atc	p.V2216I				P58107	EPIPL_HUMAN	epiplakin 1	2216						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)			TAGCGCTTGACGCGGTCGTCC	0.627													41	175					0	0	1	0	0	T	144940776	C	T	144940776	3	4	339	1	0	0	0	0	1	0	0	0	5218	536	19	1	620	1	EPPK1	8	144940776	Missense_Mutation	SNP	C	TCGA-HW-8320-01A-11D-2395-08	36634564	144940776	1423246	22	31078											
SPAG8	26206	broad.mit.edu	37	9	35811425	35811425	+	Silent	SNP	G	G	A			TCGA-HW-8320-01A-11D-2395-08	TCGA-HW-8320-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25810971-a72b-4635-a466-98bfda6e656a	e934d4ae-b158-4ffd-8151-ee7d7ded6e56	g.chr9:35811425G>A	ENST00000340291.2	-	2	742	c.618C>T	c.(616-618)gaC>gaT	p.D206D	SPAG8_ENST00000396638.2_Silent_p.D206D|SPAG8_ENST00000484764.1_Silent_p.D204D	NM_172312.1	NP_758516.1	Q99932	SPAG8_HUMAN	sperm associated antigen 8	206						acrosomal vesicle|membrane				NS(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)			TGAGCTCAGAGTCAGGGCCAG	0.627													32	133					0	0	1	0	0	A	35811425	G	A	35811425	2	1	339	1	0	0	0	0	0	0	0	1	15040	1020	36	2		2	SPAG8	9	35811425	Silent	SNP	G	TCGA-HW-8320-01A-11D-2395-08		35811425	105402006	23	31079											
PALM2-AKAP2	445815	broad.mit.edu	37	9	112898643	112898643	+	Silent	SNP	C	C	T			TCGA-HW-8320-01A-11D-2395-08	TCGA-HW-8320-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25810971-a72b-4635-a466-98bfda6e656a	e934d4ae-b158-4ffd-8151-ee7d7ded6e56	g.chr9:112898643C>T	ENST00000374530.3	+	8	999	c.819C>T	c.(817-819)caC>caT	p.H273H	PALM2-AKAP2_ENST00000302798.7_Silent_p.H273H|AKAP2_ENST00000434623.2_Silent_p.H131H|AKAP2_ENST00000374525.1_Silent_p.H131H|AKAP2_ENST00000510514.5_Silent_p.H273H|AKAP2_ENST00000259318.7_Silent_p.H42H|AKAP2_ENST00000555236.1_Silent_p.H273H	NM_007203.4|NM_147150.2	NP_009134.1|NP_671492.1	Q9Y2D5	AKAP2_HUMAN		42							enzyme binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	44						CTGATCACCACGAATCCCTGG	0.493													92	104					0	0	1	0	0	T	112898643	C	T	112898643	2	4	339	1	0	0	0	0	0	0	0	1	11457	535	19	1		1	PALM2-AKAP2	9	112898643	Silent	SNP	C	TCGA-HW-8320-01A-11D-2395-08	77087218	112898643	28314788	24	31080											
ZNF33B	7582	broad.mit.edu	37	10	43088769	43088769	+	Silent	SNP	A	A	G			TCGA-HW-8320-01A-11D-2395-08	TCGA-HW-8320-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25810971-a72b-4635-a466-98bfda6e656a	e934d4ae-b158-4ffd-8151-ee7d7ded6e56	g.chr10:43088769A>G	ENST00000359467.3	-	5	1743	c.1629T>C	c.(1627-1629)caT>caC	p.H543H	ZNF33B_ENST00000486187.1_RNA	NM_006955.1	NP_008886.1	Q06732	ZN33B_HUMAN	zinc finger protein 33B	543						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(15)|skin(1)|stomach(1)	29						GCGTTCTCTGATGTATTGTGA	0.428													23	110					0	0	1	0	0	G	43088769	A	G	43088769	2	3	339	1	0	0	0	0	0	0	0	1	17912	330	12	3		3	ZNF33B	10	43088769	Silent	SNP	A	TCGA-HW-8320-01A-11D-2395-08		43088769	92445978	25	31081											
RPS24	6229	broad.mit.edu	37	10	79793660	79793660	+	Translation_Start_Site	SNP	A	A	C			TCGA-HW-8320-01A-11D-2395-08	TCGA-HW-8320-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25810971-a72b-4635-a466-98bfda6e656a	e934d4ae-b158-4ffd-8151-ee7d7ded6e56	g.chr10:79793660A>C	ENST00000440692.1	+	1	143	c.1A>C	c.(1-3)Atg>Ctg	p.M1L	RPS24_ENST00000476545.1_3'UTR|RPS24_ENST00000435275.1_Start_Codon_SNP_p.M1L|RPS24_ENST00000372360.3_Start_Codon_SNP_p.M1L|RPS24_ENST00000360830.4_Start_Codon_SNP_p.M1L	NM_001142285.1	NP_001135757.1	P62847	RS24_HUMAN	ribosomal protein S24	1					endocrine pancreas development|erythrocyte homeostasis|maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleolus	nucleotide binding|structural constituent of ribosome|translation initiation factor binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(2)|skin(1)	5	all_cancers(46;0.0343)|all_epithelial(25;0.000959)|Breast(12;0.00113)|Prostate(51;0.0095)		Epithelial(14;0.00128)|OV - Ovarian serous cystadenocarcinoma(4;0.00248)|all cancers(16;0.00428)			GATCGCCATCATGGTGAGTCT	0.607													11	136					0	0	1	0	0	C	79793660	A	C	79793660	1	2	339	1	0	0	0	0	0	0	0	0	13687	217	8	4		4	RPS24	10	79793660	Translation_Start_Site	SNP	A	TCGA-HW-8320-01A-11D-2395-08	36704891	79793660	55741087	26	31082											
MRPL43	84545	broad.mit.edu	37	10	102739072	102739072	+	Missense_Mutation	SNP	T	T	C			TCGA-HW-8320-01A-11D-2395-08	TCGA-HW-8320-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25810971-a72b-4635-a466-98bfda6e656a	e934d4ae-b158-4ffd-8151-ee7d7ded6e56	g.chr10:102739072T>C	ENST00000318325.2	-	5	639	c.586A>G	c.(586-588)Atg>Gtg	p.M196V	MRPL43_ENST00000370241.3_Intron|SEMA4G_ENST00000210633.3_Intron|MRPL43_ENST00000370242.4_Missense_Mutation_p.Y238C|SEMA4G_ENST00000517724.1_Intron|SEMA4G_ENST00000370250.4_Intron	NM_176792.2	NP_789762.1	Q8N983	RM43_HUMAN	mitochondrial ribosomal protein L43	196					translation	mitochondrial ribosome	protein binding|structural constituent of ribosome			endometrium(1)|skin(2)|upper_aerodigestive_tract(1)	4		Colorectal(252;0.234)		Epithelial(162;6.21e-09)|all cancers(201;3.14e-07)		GCGGACAGCATAGGGGCTGGA	0.502													54	58					0	0	1	0	0	C	102739072	T	C	102739072	3	2	339	1	0	0	0	0	1	0	0	0	9856	1406	49	3	65	3	MRPL43	10	102739072	Missense_Mutation	SNP	T	TCGA-HW-8320-01A-11D-2395-08	22945412	102739072	32795675	27	31083											
PACSIN3	29763	broad.mit.edu	37	11	47202192	47202192	+	Silent	SNP	C	C	T			TCGA-HW-8320-01A-11D-2395-08	TCGA-HW-8320-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25810971-a72b-4635-a466-98bfda6e656a	e934d4ae-b158-4ffd-8151-ee7d7ded6e56	g.chr11:47202192C>T	ENST00000539589.1	-	5	603	c.261G>A	c.(259-261)gcG>gcA	p.A87A	PACSIN3_ENST00000298838.6_Silent_p.A87A	NM_001184975.1	NP_001171904.1	Q9UKS6	PACN3_HUMAN	protein kinase C and casein kinase substrate in neurons 3	87					endocytosis|negative regulation of endocytosis|positive regulation of membrane protein ectodomain proteolysis	cytoplasm|plasma membrane	cytoskeletal protein binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)	11						GCCGCTCAGCCGCCGTGAAAA	0.677													7	71					0	0	1	0	0	T	47202192	C	T	47202192	2	4	339	1	0	0	0	0	0	0	0	1	11423	639	23	1		1	PACSIN3	11	47202192	Silent	SNP	C	TCGA-HW-8320-01A-11D-2395-08		47202192	87804324	28	31084											
SLC22A6	9356	broad.mit.edu	37	11	62749448	62749448	+	Silent	SNP	G	G	A			TCGA-HW-8320-01A-11D-2395-08	TCGA-HW-8320-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25810971-a72b-4635-a466-98bfda6e656a	e934d4ae-b158-4ffd-8151-ee7d7ded6e56	g.chr11:62749448G>A	ENST00000377871.3	-	4	929	c.663C>T	c.(661-663)tgC>tgT	p.C221C	SLC22A6_ENST00000360421.4_Silent_p.C221C|SLC22A6_ENST00000421062.2_Silent_p.C221C|SLC22A6_ENST00000458333.2_Silent_p.C221C|SLC22A6_ENST00000537349.1_5'UTR	NM_004790.4|NM_153278.2	NP_004781.2|NP_695010.1	Q4U2R8	S22A6_HUMAN	solute carrier family 22 (organic anion transporter), member 6	221					alpha-ketoglutarate transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(18)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						AGGTGCCCACGCAGGCCCGTG	0.607													5	45					0	0	1	0	0	A	62749448	G	A	62749448	2	1	339	1	0	0	0	0	0	0	0	1	14513	1079	38	1		1	SLC22A6	11	62749448	Silent	SNP	G	TCGA-HW-8320-01A-11D-2395-08	15547256	62749448	72257068	29	31085											
ZFPL1	7542	broad.mit.edu	37	11	64855533	64855533	+	Missense_Mutation	SNP	G	G	A			TCGA-HW-8320-01A-11D-2395-08	TCGA-HW-8320-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25810971-a72b-4635-a466-98bfda6e656a	e934d4ae-b158-4ffd-8151-ee7d7ded6e56	g.chr11:64855533G>A	ENST00000294258.3	+	8	1032	c.880G>A	c.(880-882)Gat>Aat	p.D294N		NM_006782.3	NP_006773.2	O95159	ZFPL1_HUMAN	zinc finger protein-like 1	294					regulation of transcription, DNA-dependent|vesicle-mediated transport	Golgi apparatus|integral to membrane|nucleus	DNA binding|zinc ion binding			breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	11						AGCTGACAGCGATCCCAACCT	0.662													20	161					0	0	1	0	0	A	64855533	G	A	64855533	3	1	339	1	0	0	0	0	1	0	0	0	17714	1058	37	1	906	1	ZFPL1	11	64855533	Missense_Mutation	SNP	G	TCGA-HW-8320-01A-11D-2395-08	2106085	64855533	70150983	30	31086											
DDX51	317781	broad.mit.edu	37	12	132625414	132625414	+	Missense_Mutation	SNP	C	C	T			TCGA-HW-8320-01A-11D-2395-08	TCGA-HW-8320-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25810971-a72b-4635-a466-98bfda6e656a	e934d4ae-b158-4ffd-8151-ee7d7ded6e56	g.chr12:132625414C>T	ENST00000397333.3	-	9	1440	c.1402G>A	c.(1402-1404)Ggg>Agg	p.G468R		NM_175066.3	NP_778236.2	Q8N8A6	DDX51_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 51	468					rRNA processing	nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			endometrium(1)|lung(5)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	10	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.241)		OV - Ovarian serous cystadenocarcinoma(86;7.59e-08)|Epithelial(86;3.62e-07)|all cancers(50;2.13e-05)		CCCGAATCCCCGTCCCCATCT	0.617													8	124					0	0	1	0	0	T	132625414	C	T	132625414	3	4	339	1	0	0	0	0	1	0	0	0	4392	652	23	1	626	1	DDX51	12	132625414	Missense_Mutation	SNP	C	TCGA-HW-8320-01A-11D-2395-08		132625414	1226481	31	31087											
CPSF2	53981	broad.mit.edu	37	14	92625466	92625466	+	Missense_Mutation	SNP	A	A	G			TCGA-HW-8320-01A-11D-2395-08	TCGA-HW-8320-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25810971-a72b-4635-a466-98bfda6e656a	e934d4ae-b158-4ffd-8151-ee7d7ded6e56	g.chr14:92625466A>G	ENST00000298875.4	+	14	2246	c.1961A>G	c.(1960-1962)aAg>aGg	p.K654R		NM_017437.2	NP_059133.1	Q9P2I0	CPSF2_HUMAN	cleavage and polyadenylation specific factor 2, 100kDa	654				K -> R (in Ref. 3; AAH70095).	histone mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	hydrolase activity|protein binding|RNA binding			breast(2)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	24		all_cancers(154;0.0766)		COAD - Colon adenocarcinoma(157;0.222)		GGAGAACTAAAGGATGATGGA	0.413													4	85					0	0	1	0	0	G	92625466	A	G	92625466	3	3	339	1	0	0	0	0	1	0	0	0	3848	72	3	3	2007	3	CPSF2	14	92625466	Missense_Mutation	SNP	A	TCGA-HW-8320-01A-11D-2395-08		92625466	14724074	32	31088											
ITGAE	3682	broad.mit.edu	37	17	3664729	3664729	+	Missense_Mutation	SNP	C	C	T			TCGA-HW-8320-01A-11D-2395-08	TCGA-HW-8320-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25810971-a72b-4635-a466-98bfda6e656a	e934d4ae-b158-4ffd-8151-ee7d7ded6e56	g.chr17:3664729C>T	ENST00000263087.4	-	5	499	c.401G>A	c.(400-402)cGt>cAt	p.R134H		NM_002208.4	NP_002199.3	P38570	ITAE_HUMAN	integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide)	134					cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		AGCCTGGGGACGGAGGTCAGG	0.557													8	98					0	0	1	0	0	T	3664729	C	T	3664729	3	4	339	1	0	0	0	0	1	0	0	0	7929	536	19	1	3246	1	ITGAE	17	3664729	Missense_Mutation	SNP	C	TCGA-HW-8320-01A-11D-2395-08		3664729	77530481	33	31089											
TP53	7157	broad.mit.edu	37	17	7577576	7577582	+	Frame_Shift_Del	DEL	GTTGTAG	GTTGTAG	-	rs144340710		TCGA-HW-8320-01A-11D-2395-08	TCGA-HW-8320-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25810971-a72b-4635-a466-98bfda6e656a	e934d4ae-b158-4ffd-8151-ee7d7ded6e56	g.chr17:7577576_7577582delGTTGTAG	ENST00000420246.2	-	7	831_837	c.699_705delCTACAAC	c.(697-705)cactacaacfs	p.HYN233fs	TP53_ENST00000269305.4_Frame_Shift_Del_p.HYN233fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.HYN233fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.HYN233fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.HYN233fs|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000455263.2_Frame_Shift_Del_p.HYN233fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	233	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		H -> D (in LFS; germline mutation and in a sporadic cancer; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> P (in a sporadic cancer; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (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.Y234C(94)|p.Y234H(20)|p.Y234N(14)|p.N235S(14)|p.Y234S(9)|p.Y141C(8)|p.0?(8)|p.N235D(7)|p.Y234D(6)|p.?(5)|p.N235I(4)|p.Y234*(4)|p.Y234del(3)|p.N235T(3)|p.N235fs*5(2)|p.N235Y(2)|p.H233Q(2)|p.N235fs*12(2)|p.Y141S(2)|p.C229_H233delCTTIH(2)|p.H233fs*6(2)|p.N235del(2)|p.N235fs*6(1)|p.Y234fs*2(1)|p.V225fs*23(1)|p.Y236fs*4(1)|p.Y234fs*5(1)|p.Y234fs*4(1)|p.T230_Y234delTTIHY(1)|p.Y141N(1)|p.Y234Y(1)|p.D228fs*12(1)|p.Y234F(1)|p.I232fs*5(1)|p.Y141H(1)|p.I232_Y236delIHYNY(1)|p.Y141D(1)|p.N235>XX(1)|p.N235M(1)|p.Y234R(1)|p.N235H(1)|p.H233_C242del10(1)|p.N235_Y236delNY(1)|p.Y234_N235insX(1)|p.H233del(1)|p.Y236fs*5(1)|p.Y234fs*6(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)		TACACATGTAGTTGTAGTGGATGGTGG	0.57		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)			51	10	---	---	---	---						-	7577582	GTTGTAG	-	7577576	7	5	339	1	0	1	0	1	0	0	0	0	16442	1020	36	0	585	0	TP53	17	7577576	Frame_Shift_Del	DEL	GTTGTAG	TCGA-HW-8320-01A-11D-2395-08	3912847	7577576	73617634	34	31090											
RNF112	7732	broad.mit.edu	37	17	19316087	19316087	+	Silent	SNP	T	T	A	rs68012060		TCGA-HW-8320-01A-11D-2395-08	TCGA-HW-8320-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25810971-a72b-4635-a466-98bfda6e656a	e934d4ae-b158-4ffd-8151-ee7d7ded6e56	g.chr17:19316087T>A	ENST00000461366.1	+	3	587	c.372T>A	c.(370-372)ccT>ccA	p.P124P	CTB-187M2.2_ENST00000579897.1_RNA|RNF112_ENST00000580109.1_3'UTR	NM_007148.4	NP_009079.2	Q7Z5V9	Q7Z5V9_HUMAN	ring finger protein 112	124							GTP binding|GTPase activity|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|urinary_tract(1)	12						CGCTGCCCCCTGCACTGCAGG	0.627													4	42					0	0	1	0	0	A	19316087	T	A	19316087	2	1	339	1	0	0	0	0	0	0	0	1	13478	1567	55	5		5	RNF112	17	19316087	Silent	SNP	T	TCGA-HW-8320-01A-11D-2395-08	11738511	19316087	61879123	35	31091											
CNTD1	124817	broad.mit.edu	37	17	40956252	40956252	+	Silent	SNP	A	A	T			TCGA-HW-8320-01A-11D-2395-08	TCGA-HW-8320-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25810971-a72b-4635-a466-98bfda6e656a	e934d4ae-b158-4ffd-8151-ee7d7ded6e56	g.chr17:40956252A>T	ENST00000588408.1	+	3	531	c.255A>T	c.(253-255)gtA>gtT	p.V85V	CNTD1_ENST00000588527.1_Silent_p.V2V	NM_173478.2	NP_775749.2	Q8N815	CNTD1_HUMAN	cyclin N-terminal domain containing 1	85	Cyclin N-terminal.									central_nervous_system(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	10		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		GGTTTATGGTAAAACAGGCAG	0.438													29	35					0	0	1	0	0	T	40956252	A	T	40956252	2	4	339	1	0	0	0	0	0	0	0	1	3658	349	13	5		5	CNTD1	17	40956252	Silent	SNP	A	TCGA-HW-8320-01A-11D-2395-08	21640165	40956252	40238958	36	31092	138	2									
CNTD1	124817	broad.mit.edu	37	17	40956254	40956254	+	Missense_Mutation	SNP	A	A	T			TCGA-HW-8320-01A-11D-2395-08	TCGA-HW-8320-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25810971-a72b-4635-a466-98bfda6e656a	e934d4ae-b158-4ffd-8151-ee7d7ded6e56	g.chr17:40956254A>T	ENST00000588408.1	+	3	533	c.257A>T	c.(256-258)aAa>aTa	p.K86I	CNTD1_ENST00000588527.1_Missense_Mutation_p.K3I	NM_173478.2	NP_775749.2	Q8N815	CNTD1_HUMAN	cyclin N-terminal domain containing 1	86	Cyclin N-terminal.									central_nervous_system(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	10		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		TTTATGGTAAAACAGGCAGAG	0.438													27	36					0	0	1	0	0	T	40956254	A	T	40956254	3	4	339	1	0	0	0	0	1	0	0	0	3658	14	1	5	267	5	CNTD1	17	40956254	Missense_Mutation	SNP	A	TCGA-HW-8320-01A-11D-2395-08	2	40956254	40238956	37	31093	138	2									
CARD14	79092	broad.mit.edu	37	17	78169012	78169012	+	Missense_Mutation	SNP	G	G	A			TCGA-HW-8320-01A-11D-2395-08	TCGA-HW-8320-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25810971-a72b-4635-a466-98bfda6e656a	e934d4ae-b158-4ffd-8151-ee7d7ded6e56	g.chr17:78169012G>A	ENST00000573882.1	+	12	1915	c.1379G>A	c.(1378-1380)aGt>aAt	p.S460N	CARD14_ENST00000573754.1_3'UTR|CARD14_ENST00000344227.2_Missense_Mutation_p.S460N|CARD14_ENST00000392434.2_Missense_Mutation_p.S223N|CARD14_ENST00000570421.1_Missense_Mutation_p.S460N			Q9BXL6	CAR14_HUMAN	caspase recruitment domain family, member 14	460					activation of NF-kappaB-inducing kinase activity|positive regulation of protein phosphorylation|regulation of apoptosis	aggresome|cytoplasm|plasma membrane	CARD domain binding			NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(5)|prostate(1)|skin(1)	23	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.017)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			TCGGACCTGAGTGCCACGTCC	0.677													14	58					0	0	1	0	0	A	78169012	G	A	78169012	3	1	339	1	0	0	0	0	1	0	0	0	2664	1029	36	2	1413	2	CARD14	17	78169012	Missense_Mutation	SNP	G	TCGA-HW-8320-01A-11D-2395-08	37212758	78169012	3026198	38	31094											
HGS	9146	broad.mit.edu	37	17	79653396	79653396	+	Silent	SNP	C	C	T			TCGA-HW-8320-01A-11D-2395-08	TCGA-HW-8320-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25810971-a72b-4635-a466-98bfda6e656a	e934d4ae-b158-4ffd-8151-ee7d7ded6e56	g.chr17:79653396C>T	ENST00000329138.4	+	3	312	c.177C>T	c.(175-177)caC>caT	p.H59H		NM_004712.4	NP_004703.1	O14964	HGS_HUMAN	hepatocyte growth factor-regulated tyrosine kinase substrate	59	VHS.				cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of JAK-STAT cascade|regulation of protein catabolic process	cytosol|early endosome membrane|multivesicular body membrane	metal ion binding|protein domain specific binding			endometrium(2)|kidney(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12	all_neural(118;0.0878)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)			AGAACCCACACGTCGCCTTGT	0.483													3	47					0	0	1	0	0	T	79653396	C	T	79653396	2	4	339	1	0	0	0	0	0	0	0	1	7128	535	19	1		1	HGS	17	79653396	Silent	SNP	C	TCGA-HW-8320-01A-11D-2395-08	1484384	79653396	1541814	39	31095											
PAK4	10298	broad.mit.edu	37	19	39664275	39664275	+	Missense_Mutation	SNP	G	G	C			TCGA-HW-8320-01A-11D-2395-08	TCGA-HW-8320-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25810971-a72b-4635-a466-98bfda6e656a	e934d4ae-b158-4ffd-8151-ee7d7ded6e56	g.chr19:39664275G>C	ENST00000599386.1	+	4	445	c.264G>C	c.(262-264)caG>caC	p.Q88H	PAK4_ENST00000599470.1_Missense_Mutation_p.Q88H|PAK4_ENST00000593690.1_Missense_Mutation_p.Q241H|PAK4_ENST00000358301.3_Missense_Mutation_p.Q241H|PAK4_ENST00000435673.2_Missense_Mutation_p.Q241H|PAK4_ENST00000360442.3_Missense_Mutation_p.Q241H|PAK4_ENST00000321944.4_Missense_Mutation_p.Q151H	NM_001014835.1	NP_001014835.1	O96013	PAK4_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 4	241	Linker.				cellular component movement|signal transduction	Golgi apparatus	ATP binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	13	all_cancers(60;1.03e-07)|all_epithelial(25;9.66e-08)|all_lung(34;1.58e-07)|Lung NSC(34;1.88e-07)|Ovarian(47;0.0454)		Epithelial(26;4.82e-25)|all cancers(26;2.94e-22)|Lung(45;0.000797)|LUSC - Lung squamous cell carcinoma(53;0.00113)			CCATCCCCCAGTCCTCCTCCT	0.701													3	29					0	0	1	0	0	C	39664275	G	C	39664275	3	2	339	1	0	0	0	0	1	0	0	0	11450	1020	36	4	733	4	PAK4	19	39664275	Missense_Mutation	SNP	G	TCGA-HW-8320-01A-11D-2395-08		39664275	19464708	40	31096											
CTNNBL1	56259	broad.mit.edu	37	20	36431347	36431347	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HW-8320-01A-11D-2395-08	TCGA-HW-8320-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25810971-a72b-4635-a466-98bfda6e656a	e934d4ae-b158-4ffd-8151-ee7d7ded6e56	g.chr20:36431347C>A	ENST00000405275.2	+	12	1272	c.1029C>A	c.(1027-1029)tgC>tgA	p.C343*	CTNNBL1_ENST00000373473.1_Nonsense_Mutation_p.C183*|CTNNBL1_ENST00000361383.6_Nonsense_Mutation_p.C370*|CTNNBL1_ENST00000473857.1_3'UTR|CTNNBL1_ENST00000373469.1_Nonsense_Mutation_p.C118*	NM_001281495.1	NP_001268424.1	Q8WYA6	CTBL1_HUMAN	catenin, beta like 1	370					apoptosis|positive regulation of apoptosis|somatic diversification of immunoglobulins	nucleus	enzyme binding			autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(6)|lung(6)|ovary(3)|urinary_tract(1)	28		Myeloproliferative disorder(115;0.00878)				CAGACAACTGCCATAAGTTTG	0.478													5	82					1.23904e-05	1.23904e-05	1	1	0	A	36431347	C	A	36431347	4	1	339	1	0	0	0	0	0	1	0	0	4042	747	26	5	1152	5	CTNNBL1	20	36431347	Nonsense_Mutation	SNP	C	TCGA-HW-8320-01A-11D-2395-08		36431347	26594173	41	31097											
TPTE	7179	broad.mit.edu	37	21	10907011	10907011	+	Missense_Mutation	SNP	T	T	A			TCGA-HW-8320-01A-11D-2395-08	TCGA-HW-8320-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25810971-a72b-4635-a466-98bfda6e656a	e934d4ae-b158-4ffd-8151-ee7d7ded6e56	g.chr21:10907011T>A	ENST00000298232.7	-	23	1863	c.1496A>T	c.(1495-1497)aAt>aTt	p.N499I	TPTE_ENST00000342420.5_Missense_Mutation_p.N479I|TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000361285.4_Missense_Mutation_p.N517I	NM_199259.2	NP_954868	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	517	C2 tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			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)		TTTATGTAGATTATCCAATTC	0.368													4	91					0	0	1	0	0	A	10907011	T	A	10907011	3	1	339	1	0	0	0	0	1	0	0	0	16491	1493	52	4	109	4	TPTE	21	10907011	Missense_Mutation	SNP	T	TCGA-HW-8320-01A-11D-2395-08		10907011	37222884	42	31098											
DOCK11	139818	broad.mit.edu	37	X	117695460	117695460	+	Missense_Mutation	SNP	G	G	A			TCGA-HW-8320-01A-11D-2395-08	TCGA-HW-8320-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25810971-a72b-4635-a466-98bfda6e656a	e934d4ae-b158-4ffd-8151-ee7d7ded6e56	g.chrX:117695460G>A	ENST00000276204.6	+	7	747	c.673G>A	c.(673-675)Gcc>Acc	p.A225T	DOCK11_ENST00000276202.7_Missense_Mutation_p.A225T			Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	225	PH.				blood coagulation	cytosol	GTP binding			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						CTACTTGGACGCCTGCATTGA	0.378													16	32					0	0	1	0	0	A	117695460	G	A	117695460	3	1	339	1	0	0	0	0	1	0	0	0	4713	1087	38	1	699	1	DOCK11	23	117695460	Missense_Mutation	SNP	G	TCGA-HW-8320-01A-11D-2395-08		117695460	37575100	43	31099											
C8B	732	broad.mit.edu	37	1	57422478	57422478	+	Missense_Mutation	SNP	G	G	C			TCGA-HW-8321-01A-11D-2395-08	TCGA-HW-8321-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6d82338-1b8a-4120-9ce1-f50906ed4540	1b40ef43-8209-45a5-9a71-467c400c19e0	g.chr1:57422478G>C	ENST00000543257.1	-	4	765	c.199C>G	c.(199-201)Caa>Gaa	p.Q67E	C8B_ENST00000371237.4_Missense_Mutation_p.Q119E|C8B_ENST00000535057.1_Missense_Mutation_p.Q57E	NM_001278543.1	NP_001265472.1	P07358	CO8B_HUMAN	complement component 8, beta polypeptide	119	TSP type-1 1.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						CATCGCACTTGACTTCCGCAT	0.478													16	422					0	0	1	0	0	C	57422478	G	C	57422478	3	2	340	1	0	0	0	0	1	0	0	0	2433	1299	45	5	1460	5	C8B	1	57422478	Missense_Mutation	SNP	G	TCGA-HW-8321-01A-11D-2395-08		57422478	191828143	1	31100											
ASPM	259266	broad.mit.edu	37	1	197111767	197111768	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HW-8321-01A-11D-2395-08	TCGA-HW-8321-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6d82338-1b8a-4120-9ce1-f50906ed4540	1b40ef43-8209-45a5-9a71-467c400c19e0	g.chr1:197111767_197111768insT	ENST00000367409.4	-	3	1870_1871	c.1614_1615insA	c.(1612-1617)aaagaafs	p.E539fs	ASPM_ENST00000294732.7_Frame_Shift_Ins_p.E539fs	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	539					mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						TGAAAATCTTCTTTTTCCTTTT	0.322													19	125	---	---	---	---						T	197111768	-	T	197111767	7	5	340	1	0	1	1	0	0	0	0	0	1055	922	32	0	8922	0	ASPM	1	197111767	Frame_Shift_Ins	INS	-	TCGA-HW-8321-01A-11D-2395-08	139689289	197111767	52138854	2	31101											
DNMT3A	1788	broad.mit.edu	37	2	25457209	25457209	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HW-8321-01A-11D-2395-08	TCGA-HW-8321-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6d82338-1b8a-4120-9ce1-f50906ed4540	1b40ef43-8209-45a5-9a71-467c400c19e0	g.chr2:25457209C>T	ENST00000264709.3	-	23	3015	c.2678G>A	c.(2677-2679)tGg>tAg	p.W893*	DNMT3A_ENST00000402667.1_Nonsense_Mutation_p.W670*|DNMT3A_ENST00000321117.5_Nonsense_Mutation_p.W893*|DNMT3A_ENST00000380746.4_Nonsense_Mutation_p.W704*	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	893					regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding	p.W893S(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGGCACGCTCCATGACCGGCC	0.557			"Mis, F, N, S"		AML								22	48					0	0	1	0	0	T	25457209	C	T	25457209	4	4	340	1	0	0	0	0	0	1	0	0	4703	595	21	2	64	2	DNMT3A	2	25457209	Nonsense_Mutation	SNP	C	TCGA-HW-8321-01A-11D-2395-08		25457209	217742164	3	31102											
KIAA1841	84542	broad.mit.edu	37	2	61310289	61310289	+	Splice_Site	SNP	G	G	C			TCGA-HW-8321-01A-11D-2395-08	TCGA-HW-8321-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6d82338-1b8a-4120-9ce1-f50906ed4540	1b40ef43-8209-45a5-9a71-467c400c19e0	g.chr2:61310289G>C	ENST00000402291.1	+	8	971	c.730G>C	c.(730-732)Gtt>Ctt	p.V244L	KIAA1841_ENST00000482513.1_3'UTR|KIAA1841_ENST00000356719.2_Splice_Site_p.V244L|KIAA1841_ENST00000453873.1_Splice_Site_p.V244L|KIAA1841_ENST00000295031.5_Splice_Site_p.V244L	NM_001129993.1	NP_001123465.1	Q6NSI8	K1841_HUMAN	KIAA1841	244										breast(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	25			Epithelial(17;0.193)			GATTTTTTAGGTTGAACAGTG	0.318													15	41					0	0	1	0	0	C	61310289	G	C	61310289	5	2	340	1	0	0	0	0	0	0	1	0	8303	1275	44	5	752	5	KIAA1841	2	61310289	Splice_Site	SNP	G	TCGA-HW-8321-01A-11D-2395-08	35853080	61310289	181889084	4	31103											
IL1RL2	8808	broad.mit.edu	37	2	102835531	102835531	+	Silent	SNP	A	A	G			TCGA-HW-8321-01A-11D-2395-08	TCGA-HW-8321-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6d82338-1b8a-4120-9ce1-f50906ed4540	1b40ef43-8209-45a5-9a71-467c400c19e0	g.chr2:102835531A>G	ENST00000264257.2	+	7	969	c.843A>G	c.(841-843)agA>agG	p.R281R	IL1RL2_ENST00000441515.2_Silent_p.R163R|IL1RL2_ENST00000539491.1_Silent_p.R281R|IL1RL2_ENST00000481806.1_3'UTR	NM_003854.2	NP_003845.2	Q9HB29	ILRL2_HUMAN	interleukin 1 receptor-like 2	281	Ig-like C2-type 3.				cellular defense response|innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|liver(2)|lung(8)|ovary(2)|prostate(1)	26						AACGAATCAGAGAAGGGGTGG	0.403													43	91					0	0	1	0	0	G	102835531	A	G	102835531	2	3	340	1	0	0	0	0	0	0	0	1	7708	301	11	3		3	IL1RL2	2	102835531	Silent	SNP	A	TCGA-HW-8321-01A-11D-2395-08	41525242	102835531	140363842	5	31104											
ST6GAL2	84620	broad.mit.edu	37	2	107446647	107446647	+	Missense_Mutation	SNP	C	C	T	rs144935783		TCGA-HW-8321-01A-11D-2395-08	TCGA-HW-8321-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6d82338-1b8a-4120-9ce1-f50906ed4540	1b40ef43-8209-45a5-9a71-467c400c19e0	g.chr2:107446647C>T	ENST00000409382.3	-	5	1803	c.1193G>A	c.(1192-1194)cGt>cAt	p.R398H	ST6GAL2_ENST00000361686.4_Missense_Mutation_p.R398H|ST6GAL2_ENST00000409087.3_Missense_Mutation_p.R398H	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	398					growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity	p.R398H(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						GTTTCTCTGACGATGCTGAAT	0.353													13	150					0	0	1	0	0	T	107446647	C	T	107446647	3	4	340	1	0	0	0	0	1	0	0	0	15278	536	19	1	491	1	ST6GAL2	2	107446647	Missense_Mutation	SNP	C	TCGA-HW-8321-01A-11D-2395-08	4611116	107446647	135752726	6	31105											
ZNF804A	91752	broad.mit.edu	37	2	185801555	185801555	+	Missense_Mutation	SNP	C	C	G			TCGA-HW-8321-01A-11D-2395-08	TCGA-HW-8321-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6d82338-1b8a-4120-9ce1-f50906ed4540	1b40ef43-8209-45a5-9a71-467c400c19e0	g.chr2:185801555C>G	ENST00000302277.6	+	4	2026	c.1432C>G	c.(1432-1434)Cca>Gca	p.P478A		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	478						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						TAAAAATAAGCCAGACTTAAA	0.343													18	130					0	0	1	0	0	G	185801555	C	G	185801555	3	3	340	1	0	0	0	0	1	0	0	0	18219	739	26	5	1446	5	ZNF804A	2	185801555	Missense_Mutation	SNP	C	TCGA-HW-8321-01A-11D-2395-08	78354908	185801555	57397818	7	31106											
FZD5	7855	broad.mit.edu	37	2	208632020	208632020	+	Missense_Mutation	SNP	G	G	T			TCGA-HW-8321-01A-11D-2395-08	TCGA-HW-8321-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6d82338-1b8a-4120-9ce1-f50906ed4540	1b40ef43-8209-45a5-9a71-467c400c19e0	g.chr2:208632020G>T	ENST00000295417.3	-	2	1997	c.1444C>A	c.(1444-1446)Ctc>Atc	p.L482I		NM_003468.3	NP_003459.2	Q13467	FZD5_HUMAN	frizzled family receptor 5	482					angiogenesis|anterior/posterior axis specification, embryo|axonogenesis|brain development|canonical Wnt receptor signaling pathway|cellular response to molecule of bacterial origin|embryonic camera-type eye development|gonad development|labyrinthine layer blood vessel development|positive regulation of interferon-gamma production|positive regulation of transcription from RNA polymerase II promoter|post-embryonic camera-type eye development|Spemann organizer formation|T cell differentiation in thymus|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell projection|cell surface|Golgi membrane|integral to membrane|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|protein kinase binding|Wnt-protein binding			NS(1)|kidney(1)|lung(1)|ovary(2)|prostate(1)|skin(1)	7				LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.13)|Lung(261;0.134)		GCGCAGGTGAGCGCCGCCTCC	0.667													7	30					8.12818e-05	8.2845e-05	1	1	0	T	208632020	G	T	208632020	3	4	340	1	0	0	0	0	1	0	0	0	6168	971	34	4	317	4	FZD5	2	208632020	Missense_Mutation	SNP	G	TCGA-HW-8321-01A-11D-2395-08	22830465	208632020	34567353	8	31107											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-HW-8321-01A-11D-2395-08	TCGA-HW-8321-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6d82338-1b8a-4120-9ce1-f50906ed4540	1b40ef43-8209-45a5-9a71-467c400c19e0	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	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								29	65					0	0	1	0	0	T	209113112	C	T	209113112	3	4	340	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HW-8321-01A-11D-2395-08	481092	209113112	34086261	9	31108											
TMEM40	55287	broad.mit.edu	37	3	12779642	12779642	+	Silent	SNP	T	T	G			TCGA-HW-8321-01A-11D-2395-08	TCGA-HW-8321-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6d82338-1b8a-4120-9ce1-f50906ed4540	1b40ef43-8209-45a5-9a71-467c400c19e0	g.chr3:12779642T>G	ENST00000314124.7	-	7	773	c.417A>C	c.(415-417)ccA>ccC	p.P139P	TMEM40_ENST00000476331.1_5'UTR|TMEM40_ENST00000435218.2_Silent_p.P109P|TMEM40_ENST00000435575.1_Silent_p.P63P|TMEM40_ENST00000431022.2_Silent_p.P155P|TMEM40_ENST00000264728.8_Silent_p.P139P	NM_001284406.1|NM_018306.2	NP_001271335.1|NP_060776.2	Q8WWA1	TMM40_HUMAN	transmembrane protein 40	139						integral to membrane				breast(1)|large_intestine(3)|lung(5)|urinary_tract(1)	10						TACCACTTGCTGGGTCAGAGC	0.557													10	26					0	0	1	0	0	G	12779642	T	G	12779642	2	3	340	1	0	0	0	0	0	0	0	1	16223	1567	55	5		5	TMEM40	3	12779642	Silent	SNP	T	TCGA-HW-8321-01A-11D-2395-08		12779642	185242788	10	31109											
CMTM7	112616	broad.mit.edu	37	3	32483476	32483476	+	Missense_Mutation	SNP	G	G	A			TCGA-HW-8321-01A-11D-2395-08	TCGA-HW-8321-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6d82338-1b8a-4120-9ce1-f50906ed4540	1b40ef43-8209-45a5-9a71-467c400c19e0	g.chr3:32483476G>A	ENST00000334983.5	+	2	540	c.304G>A	c.(304-306)Gtg>Atg	p.V102M	CMTM7_ENST00000349718.4_Missense_Mutation_p.V102M	NM_138410.2	NP_612419.1	Q96FZ5	CKLF7_HUMAN	CKLF-like MARVEL transmembrane domain containing 7	102	MARVEL.				chemotaxis	extracellular space|integral to membrane	cytokine activity			endometrium(1)|large_intestine(1)|lung(2)	4						CTTCTACCGCGTGCTCACCTG	0.537													10	116					0	0	1	0	0	A	32483476	G	A	32483476	3	1	340	1	0	0	0	0	1	0	0	0	3611	1145	40	1	310	1	CMTM7	3	32483476	Missense_Mutation	SNP	G	TCGA-HW-8321-01A-11D-2395-08	19703834	32483476	165538954	11	31110											
DAG1	1605	broad.mit.edu	37	3	49569023	49569023	+	Missense_Mutation	SNP	A	A	G			TCGA-HW-8321-01A-11D-2395-08	TCGA-HW-8321-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6d82338-1b8a-4120-9ce1-f50906ed4540	1b40ef43-8209-45a5-9a71-467c400c19e0	g.chr3:49569023A>G	ENST00000545947.1	+	6	1801	c.1079A>G	c.(1078-1080)gAt>gGt	p.D360G	DAG1_ENST00000515359.2_Missense_Mutation_p.D360G|DAG1_ENST00000538711.1_Missense_Mutation_p.D360G|DAG1_ENST00000308775.2_Missense_Mutation_p.D360G|DAG1_ENST00000541308.1_Missense_Mutation_p.D360G|DAG1_ENST00000539901.1_Missense_Mutation_p.D360G	NM_001177634.2	NP_001171105	Q14118	DAG1_HUMAN	dystroglycan 1 (dystrophin-associated glycoprotein 1)	360	Mucin-like domain.|Required for laminin recognition.|Thr-rich.				cytoskeletal anchoring at plasma membrane|interspecies interaction between organisms|microtubule anchoring|negative regulation of cell migration|negative regulation of MAPKKK cascade|negative regulation of protein kinase B signaling cascade	basement membrane|contractile ring|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|extracellular space|filopodium|integral to membrane|integral to membrane of membrane fraction|lamellipodium|nucleoplasm	actin binding|alpha-actinin binding|calcium ion binding|laminin-1 binding|receptor activity|structural constituent of muscle|tubulin binding|vinculin binding			NS(1)|autonomic_ganglia(2)|breast(2)|endometrium(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)|skin(1)	23				BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.00241)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		CCAGTCAGGGATCCTGTTCCT	0.602													35	191					0	0	1	0	0	G	49569023	A	G	49569023	3	3	340	1	0	0	0	0	1	0	0	0	4249	333	12	3	1085	3	DAG1	3	49569023	Missense_Mutation	SNP	A	TCGA-HW-8321-01A-11D-2395-08	17085547	49569023	148453407	12	31111											
CDHR4	389118	broad.mit.edu	37	3	49836253	49836253	+	Missense_Mutation	SNP	G	G	A			TCGA-HW-8321-01A-11D-2395-08	TCGA-HW-8321-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6d82338-1b8a-4120-9ce1-f50906ed4540	1b40ef43-8209-45a5-9a71-467c400c19e0	g.chr3:49836253G>A	ENST00000343366.4	-	3	599	c.577C>T	c.(577-579)Ccc>Tcc	p.P193S	CDHR4_ENST00000487256.1_Silent_p.S167S|CDHR4_ENST00000412678.2_Intron			A6H8M9	CDHR4_HUMAN	cadherin-related family member 4	0					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(3)	11						CATGTTCTGGGCTTACCTGCG	0.597													9	23					0	0	1	0	0	A	49836253	G	A	49836253	3	1	340	1	0	0	0	0	1	0	0	0	3143	1218	42	2		2	CDHR4	3	49836253	Missense_Mutation	SNP	G	TCGA-HW-8321-01A-11D-2395-08	267230	49836253	148186177	13	31112											
ARMC8	25852	broad.mit.edu	37	3	137982663	137982663	+	Splice_Site	SNP	G	G	C			TCGA-HW-8321-01A-11D-2395-08	TCGA-HW-8321-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6d82338-1b8a-4120-9ce1-f50906ed4540	1b40ef43-8209-45a5-9a71-467c400c19e0	g.chr3:137982663G>C	ENST00000469044.1	+	13	1488	c.1217G>C	c.(1216-1218)aGa>aCa	p.R406T	ARMC8_ENST00000485396.1_Splice_Site_p.R333T|ARMC8_ENST00000491704.1_Splice_Site_p.R364T|NME9_ENST00000484930.1_Intron|NME9_ENST00000383180.2_Intron|ARMC8_ENST00000481646.1_Splice_Site_p.R392T|NME9_ENST00000536478.1_Intron|NME9_ENST00000341790.5_Intron|NME9_ENST00000317876.4_Intron|ARMC8_ENST00000393058.3_Splice_Site_p.R396T|ARMC8_ENST00000461822.1_Splice_Site_p.R339T|ARMC8_ENST00000538260.1_Splice_Site_p.R375T	NM_001267041.1|NM_001267042.1	NP_001253970.1|NP_001253971.1	Q8IUR7	ARMC8_HUMAN	armadillo repeat containing 8	406							binding			endometrium(2)|kidney(1)|large_intestine(7)|lung(5)|upper_aerodigestive_tract(1)	16						GCTGCCGTCAGGTATGAGCTT	0.398													6	131					0	0	1	0	0	C	137982663	G	C	137982663	5	2	340	1	0	0	0	0	0	0	1	0	956	1014	35	4	1291	4	ARMC8	3	137982663	Splice_Site	SNP	G	TCGA-HW-8321-01A-11D-2395-08	88146410	137982663	60039767	14	31113											
AP2M1	1173	broad.mit.edu	37	3	183898930	183898930	+	Missense_Mutation	SNP	G	G	C			TCGA-HW-8321-01A-11D-2395-08	TCGA-HW-8321-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6d82338-1b8a-4120-9ce1-f50906ed4540	1b40ef43-8209-45a5-9a71-467c400c19e0	g.chr3:183898930G>C	ENST00000382456.3	+	6	931	c.617G>C	c.(616-618)gGc>gCc	p.G206A	AP2M1_ENST00000461733.1_3'UTR|EIF2B5_ENST00000444495.1_Intron|AP2M1_ENST00000439647.1_Missense_Mutation_p.G206A|AP2M1_ENST00000292807.5_Missense_Mutation_p.G208A|AP2M1_ENST00000411763.2_Missense_Mutation_p.G233A	NM_001025205.1	NP_001020376.1	Q96CW1	AP2M1_HUMAN	adaptor-related protein complex 2, mu 1 subunit	208	MHD.				axon guidance|cellular membrane organization|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|vesicle-mediated transport|viral reproduction	clathrin adaptor complex|clathrin coat of coated pit|cytosol|endocytic vesicle membrane|peroxisomal membrane	lipid binding|protein binding|transporter activity			endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	18	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.92e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TACCTGAGTGGCATGCCTGAA	0.537													35	199					0	0	1	0	0	C	183898930	G	C	183898930	3	2	340	1	0	0	0	0	1	0	0	0	738	1203	42	5	642	5	AP2M1	3	183898930	Missense_Mutation	SNP	G	TCGA-HW-8321-01A-11D-2395-08	45916267	183898930	14123500	15	31114											
FGFR4	2264	broad.mit.edu	37	5	176517585	176517585	+	Missense_Mutation	SNP	G	G	T			TCGA-HW-8321-01A-11D-2395-08	TCGA-HW-8321-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6d82338-1b8a-4120-9ce1-f50906ed4540	1b40ef43-8209-45a5-9a71-467c400c19e0	g.chr5:176517585G>T	ENST00000292408.4	+	3	531	c.286G>T	c.(286-288)Gct>Tct	p.A96S	FGFR4_ENST00000292410.3_Missense_Mutation_p.A96S|FGFR4_ENST00000502906.1_Missense_Mutation_p.A96S|FGFR4_ENST00000393648.2_Missense_Mutation_p.A96S|FGFR4_ENST00000393637.1_Missense_Mutation_p.A96S	NM_002011.3|NM_213647.1	NP_002002.3|NP_998812.1	P22455	FGFR4_HUMAN	fibroblast growth factor receptor 4	96	Ig-like C2-type 1.				insulin receptor signaling pathway|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	34	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Palifermin(DB00039)	ACCTGAGGATGCTGGCCGCTA	0.607										TSP Lung(9;0.080)			22	86					3.62473e-10	3.76688e-10	1	1	0	T	176517585	G	T	176517585	3	4	340	1	0	0	0	0	1	0	0	0	5901	1319	46	5	292	5	FGFR4	5	176517585	Missense_Mutation	SNP	G	TCGA-HW-8321-01A-11D-2395-08		176517585	4397675	16	31115											
TRIM15	89870	broad.mit.edu	37	6	30134981	30134981	+	Missense_Mutation	SNP	T	T	C			TCGA-HW-8321-01A-11D-2395-08	TCGA-HW-8321-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6d82338-1b8a-4120-9ce1-f50906ed4540	1b40ef43-8209-45a5-9a71-467c400c19e0	g.chr6:30134981T>C	ENST00000376694.4	+	2	879	c.410T>C	c.(409-411)cTg>cCg	p.L137P	TRIM15_ENST00000376688.1_Intron	NM_033229.2	NP_150232.2	Q9C019	TRI15_HUMAN	tripartite motif containing 15	137					mesodermal cell fate determination	intracellular	zinc ion binding			large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	14						CTGGAAGCTCTGAGCACGGAG	0.453													15	69					0	0	1	0	0	C	30134981	T	C	30134981	3	2	340	1	0	0	0	0	1	0	0	0	16551	1580	55	3	416	3	TRIM15	6	30134981	Missense_Mutation	SNP	T	TCGA-HW-8321-01A-11D-2395-08		30134981	140980086	17	31116											
TNXB	7148	broad.mit.edu	37	6	32018082	32018082	+	Silent	SNP	G	G	A			TCGA-HW-8321-01A-11D-2395-08	TCGA-HW-8321-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6d82338-1b8a-4120-9ce1-f50906ed4540	1b40ef43-8209-45a5-9a71-467c400c19e0	g.chr6:32018082G>A	ENST00000375244.3	-	27	9333	c.9132C>T	c.(9130-9132)gcC>gcT	p.A3044A	TNXB_ENST00000375247.2_Silent_p.A3042A			P22105	TENX_HUMAN	tenascin XB	3089	Fibronectin type-III 22.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GGGTGGTCTCGGCTTCATCCT	0.597													37	63					0	0	1	0	0	A	32018082	G	A	32018082	2	1	340	1	0	0	0	0	0	0	0	1	16406	1103	39	1		1	TNXB	6	32018082	Silent	SNP	G	TCGA-HW-8321-01A-11D-2395-08	1883101	32018082	139096985	18	31117											
GPR63	81491	broad.mit.edu	37	6	97246405	97246405	+	Silent	SNP	C	C	T			TCGA-HW-8321-01A-11D-2395-08	TCGA-HW-8321-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6d82338-1b8a-4120-9ce1-f50906ed4540	1b40ef43-8209-45a5-9a71-467c400c19e0	g.chr6:97246405C>T	ENST00000229955.3	-	2	1548	c.1203G>A	c.(1201-1203)aaG>aaA	p.K401K	GPR63_ENST00000417980.1_Silent_p.K401K	NM_001143957.2|NM_030784.3	NP_001137429.1|NP_110411.1	Q9BZJ6	GPR63_HUMAN	G protein-coupled receptor 63	401						integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			kidney(1)|large_intestine(5)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(76;6.89e-05)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.0618)|Colorectal(196;0.0721)		BRCA - Breast invasive adenocarcinoma(108;0.0912)		GTATCCGTCGCTTTGTGTGAC	0.478													35	64					0	0	1	0	0	T	97246405	C	T	97246405	2	4	340	1	0	0	0	0	0	0	0	1	6744	796	28	2		2	GPR63	6	97246405	Silent	SNP	C	TCGA-HW-8321-01A-11D-2395-08	65228323	97246405	73868662	19	31118											
ELN	2006	broad.mit.edu	37	7	73471779	73471779	+	Silent	SNP	G	G	A			TCGA-HW-8321-01A-11D-2395-08	TCGA-HW-8321-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6d82338-1b8a-4120-9ce1-f50906ed4540	1b40ef43-8209-45a5-9a71-467c400c19e0	g.chr7:73471779G>A	ENST00000358929.4	+	22	1516	c.1425G>A	c.(1423-1425)ccG>ccA	p.P475P	ELN_ENST00000445912.1_Intron|ELN_ENST00000380553.4_Intron|ELN_ENST00000380575.4_Intron|ELN_ENST00000380562.4_Intron|ELN_ENST00000380576.5_Intron|ELN_ENST00000320399.6_Intron|ELN_ENST00000320492.7_Intron|ELN_ENST00000458204.1_Intron|ELN_ENST00000252034.7_Intron|ELN_ENST00000357036.5_Intron|ELN_ENST00000380584.4_Intron|ELN_ENST00000429192.1_Intron|ELN_ENST00000414324.1_Intron	NM_001278939.1	NP_001265868.1	P15502	ELN_HUMAN	elastin	475	Ala-rich.				blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange	proteinaceous extracellular matrix	extracellular matrix constituent conferring elasticity|protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)			Rofecoxib(DB00533)	CAGGTGTGCCGGGCACGGGAG	0.637			T	PAX5	B-ALL		"Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"						6	13					0	0	1	0	0	A	73471779	G	A	73471779	2	1	340	1	0	0	0	0	0	0	0	1	5099	1131	39	1		1	ELN	7	73471779	Silent	SNP	G	TCGA-HW-8321-01A-11D-2395-08		73471779	85666884	20	31119											
ZNF804B	219578	broad.mit.edu	37	7	88964578	88964578	+	Missense_Mutation	SNP	A	A	C			TCGA-HW-8321-01A-11D-2395-08	TCGA-HW-8321-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6d82338-1b8a-4120-9ce1-f50906ed4540	1b40ef43-8209-45a5-9a71-467c400c19e0	g.chr7:88964578A>C	ENST00000333190.4	+	4	2891	c.2282A>C	c.(2281-2283)aAc>aCc	p.N761T		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	761						intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			CTAAAGCACAACTGCTTCTAC	0.383										HNSCC(36;0.09)			24	43					0	0	1	0	0	C	88964578	A	C	88964578	3	2	340	1	0	0	0	0	1	0	0	0	18220	43	2	5	2296	5	ZNF804B	7	88964578	Missense_Mutation	SNP	A	TCGA-HW-8321-01A-11D-2395-08	15492799	88964578	70174085	21	31120											
BAIAP2L1	55971	broad.mit.edu	37	7	97941545	97941545	+	Missense_Mutation	SNP	C	C	T			TCGA-HW-8321-01A-11D-2395-08	TCGA-HW-8321-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6d82338-1b8a-4120-9ce1-f50906ed4540	1b40ef43-8209-45a5-9a71-467c400c19e0	g.chr7:97941545C>T	ENST00000005260.8	-	8	886	c.671G>A	c.(670-672)cGg>cAg	p.R224Q	BAIAP2L1_ENST00000462558.1_5'UTR	NM_018842.4	NP_061330.2	Q9UHR4	BI2L1_HUMAN	BAI1-associated protein 2-like 1	224	IMD.				filopodium assembly|positive regulation of actin cytoskeleton reorganization|positive regulation of actin filament polymerization|response to bacterium|signal transduction	cell junction|cytoskeleton|cytosol|nucleus	actin binding|cytoskeletal adaptor activity|proline-rich region binding|SH3 domain binding			NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)	23	all_cancers(62;4.34e-10)|all_epithelial(64;5e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0113)|all_lung(186;0.0126)		STAD - Stomach adenocarcinoma(171;0.215)			CTCCTGCCACCGAGGCAGCTT	0.448													17	215					0	0	1	0	0	T	97941545	C	T	97941545	3	4	340	1	0	0	0	0	1	0	0	0	1300	652	23	1	892	1	BAIAP2L1	7	97941545	Missense_Mutation	SNP	C	TCGA-HW-8321-01A-11D-2395-08	8976967	97941545	61197118	22	31121											
MYO3A	53904	broad.mit.edu	37	10	26285470	26285470	+	Missense_Mutation	SNP	G	G	A			TCGA-HW-8321-01A-11D-2395-08	TCGA-HW-8321-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6d82338-1b8a-4120-9ce1-f50906ed4540	1b40ef43-8209-45a5-9a71-467c400c19e0	g.chr10:26285470G>A	ENST00000265944.5	+	5	521	c.355G>A	c.(355-357)Ggt>Agt	p.G119S	MYO3A_ENST00000543632.1_Missense_Mutation_p.G119S|MYO3A_ENST00000376302.1_Missense_Mutation_p.G119S|MYO3A_ENST00000376301.1_Missense_Mutation_p.G119S	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	119	Protein kinase.				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						TCTGAAGAGGGGTGAAAGAAT	0.353													11	85					0	0	1	0	0	A	26285470	G	A	26285470	3	1	340	1	0	0	0	0	1	0	0	0	10124	1232	43	2	365	2	MYO3A	10	26285470	Missense_Mutation	SNP	G	TCGA-HW-8321-01A-11D-2395-08		26285470	109249277	23	31122											
CABP4	57010	broad.mit.edu	37	11	67222946	67222946	+	Missense_Mutation	SNP	C	C	T			TCGA-HW-8321-01A-11D-2395-08	TCGA-HW-8321-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6d82338-1b8a-4120-9ce1-f50906ed4540	1b40ef43-8209-45a5-9a71-467c400c19e0	g.chr11:67222946C>T	ENST00000325656.5	+	1	129	c.52C>T	c.(52-54)Cgt>Tgt	p.R18C	CABP4_ENST00000438189.2_Intron|CABP4_ENST00000542025.2_3'UTR	NM_145200.3	NP_660201.1	P57796	CABP4_HUMAN	calcium binding protein 4	18					visual perception	cytoplasm|extracellular region|terminal button	calcium ion binding			central_nervous_system(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(2)	11			BRCA - Breast invasive adenocarcinoma(15;8.18e-06)			GGCCATTGGCCGTCAGAAGCC	0.642													20	15					0	0	1	0	0	T	67222946	C	T	67222946	3	4	340	1	0	0	0	0	1	0	0	0	2551	652	23	1	54	1	CABP4	11	67222946	Missense_Mutation	SNP	C	TCGA-HW-8321-01A-11D-2395-08		67222946	67783570	24	31123											
DPPA3	359787	broad.mit.edu	37	12	7867804	7867804	+	Silent	SNP	G	G	A			TCGA-HW-8321-01A-11D-2395-08	TCGA-HW-8321-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6d82338-1b8a-4120-9ce1-f50906ed4540	1b40ef43-8209-45a5-9a71-467c400c19e0	g.chr12:7867804G>A	ENST00000345088.2	+	2	225	c.108G>A	c.(106-108)acG>acA	p.T36T		NM_199286.2	NP_954980.1	Q6W0C5	DPPA3_HUMAN	developmental pluripotency associated 3	36						cytoplasm|nucleus				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(2)	8				Kidney(36;0.0887)		CCTCCGAGACGTTGATAAAGA	0.453													59	106					0	0	1	0	0	A	7867804	G	A	7867804	2	1	340	1	0	0	0	0	0	0	0	1	4761	1132	40	1		1	DPPA3	12	7867804	Silent	SNP	G	TCGA-HW-8321-01A-11D-2395-08		7867804	125984091	25	31124											
FMNL3	91010	broad.mit.edu	37	12	50044648	50044648	+	Missense_Mutation	SNP	T	T	A			TCGA-HW-8321-01A-11D-2395-08	TCGA-HW-8321-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6d82338-1b8a-4120-9ce1-f50906ed4540	1b40ef43-8209-45a5-9a71-467c400c19e0	g.chr12:50044648T>A	ENST00000335154.5	-	17	2044	c.1811A>T	c.(1810-1812)gAt>gTt	p.D604V	FMNL3_ENST00000550488.1_Missense_Mutation_p.D604V|FMNL3_ENST00000293590.5_Missense_Mutation_p.D604V|FMNL3_ENST00000352151.5_Missense_Mutation_p.D553V	NM_175736.4	NP_783863.4	Q8IVF7	FMNL3_HUMAN	formin-like 3	604	FH2.				actin cytoskeleton organization		actin binding|Rho GTPase binding			breast(4)|endometrium(7)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|stomach(1)	39						TTCAAACTTATCAAGATCCAG	0.512													14	56					0	0	1	0	0	A	50044648	T	A	50044648	3	1	340	1	0	0	0	0	1	0	0	0	5986	1435	50	4	1312	4	FMNL3	12	50044648	Missense_Mutation	SNP	T	TCGA-HW-8321-01A-11D-2395-08	42176844	50044648	83807247	26	31125											
SOAT2	8435	broad.mit.edu	37	12	53517583	53517583	+	Missense_Mutation	SNP	T	T	A			TCGA-HW-8321-01A-11D-2395-08	TCGA-HW-8321-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6d82338-1b8a-4120-9ce1-f50906ed4540	1b40ef43-8209-45a5-9a71-467c400c19e0	g.chr12:53517583T>A	ENST00000301466.3	+	14	1504	c.1444T>A	c.(1444-1446)Ttt>Att	p.F482I		NM_003578.3	NP_003569.1	O75908	SOAT2_HUMAN	sterol O-acyltransferase 2	482					cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|macrophage derived foam cell differentiation|very-low-density lipoprotein particle assembly	brush border|endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol binding|cholesterol O-acyltransferase activity|fatty-acyl-CoA binding			endometrium(5)|kidney(3)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|skin(1)	18						GACCATGCTGTTTCTAGGCCA	0.577													23	55					0	0	1	0	0	A	53517583	T	A	53517583	3	1	340	1	0	0	0	0	1	0	0	0	14965	1725	60	5	1498	5	SOAT2	12	53517583	Missense_Mutation	SNP	T	TCGA-HW-8321-01A-11D-2395-08	3472935	53517583	80334312	27	31126											
TRHDE	29953	broad.mit.edu	37	12	73012760	73012760	+	Missense_Mutation	SNP	G	G	A			TCGA-HW-8321-01A-11D-2395-08	TCGA-HW-8321-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6d82338-1b8a-4120-9ce1-f50906ed4540	1b40ef43-8209-45a5-9a71-467c400c19e0	g.chr12:73012760G>A	ENST00000261180.4	+	13	2372	c.2276G>A	c.(2275-2277)cGa>cAa	p.R759Q		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	759					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						GCTGCCAGCCGAGCTCTTTAT	0.368													22	61					0	0	1	0	0	A	73012760	G	A	73012760	3	1	340	1	0	0	0	0	1	0	0	0	16540	1058	37	1	2326	1	TRHDE	12	73012760	Missense_Mutation	SNP	G	TCGA-HW-8321-01A-11D-2395-08	19495177	73012760	60839135	28	31127											
USP12	219333	broad.mit.edu	37	13	27680004	27680004	+	Silent	SNP	C	C	T	rs142426104		TCGA-HW-8321-01A-11D-2395-08	TCGA-HW-8321-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6d82338-1b8a-4120-9ce1-f50906ed4540	1b40ef43-8209-45a5-9a71-467c400c19e0	g.chr13:27680004C>T	ENST00000282344.6	-	3	463	c.207G>A	c.(205-207)gcG>gcA	p.A69A		NM_182488.3	NP_872294.2	O75317	UBP12_HUMAN	ubiquitin specific peptidase 12	69					protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Lung SC(185;0.0161)		all cancers(112;0.0508)|GBM - Glioblastoma multiforme(144;0.168)|Epithelial(112;0.244)|OV - Ovarian serous cystadenocarcinoma(117;0.246)		GACTCTTATACGCAAGAACTT	0.393													19	70					0	0	1	0	0	T	27680004	C	T	27680004	2	4	340	1	0	0	0	0	0	0	0	1	17103	523	19	1		1	USP12	13	27680004	Silent	SNP	C	TCGA-HW-8321-01A-11D-2395-08		27680004	87489874	29	31128											
ACOT4	122970	broad.mit.edu	37	14	74062179	74062179	+	Missense_Mutation	SNP	G	G	A			TCGA-HW-8321-01A-11D-2395-08	TCGA-HW-8321-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6d82338-1b8a-4120-9ce1-f50906ed4540	1b40ef43-8209-45a5-9a71-467c400c19e0	g.chr14:74062179G>A	ENST00000326303.4	+	3	1341	c.1087G>A	c.(1087-1089)Gag>Aag	p.E363K		NM_152331.3	NP_689544.3	Q8N9L9	ACOT4_HUMAN	acyl-CoA thioesterase 4	363					acyl-CoA metabolic process|dicarboxylic acid metabolic process|long-chain fatty acid metabolic process|saturated monocarboxylic acid metabolic process|short-chain fatty acid metabolic process|succinyl-CoA metabolic process|unsaturated monocarboxylic acid metabolic process|very long-chain fatty acid metabolic process	peroxisome	carboxylesterase activity|palmitoyl-CoA hydrolase activity			endometrium(1)|large_intestine(3)|lung(4)	8				BRCA - Breast invasive adenocarcinoma(234;0.00331)		GCATTACATCGAGCCTCCTTA	0.517													5	124					0	0	1	0	0	A	74062179	G	A	74062179	3	1	340	1	0	0	0	0	1	0	0	0	153	1059	37	1	1097	1	ACOT4	14	74062179	Missense_Mutation	SNP	G	TCGA-HW-8321-01A-11D-2395-08		74062179	33287361	30	31129											
THSD4	79875	broad.mit.edu	37	15	71535120	71535120	+	Silent	SNP	C	C	T			TCGA-HW-8321-01A-11D-2395-08	TCGA-HW-8321-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6d82338-1b8a-4120-9ce1-f50906ed4540	1b40ef43-8209-45a5-9a71-467c400c19e0	g.chr15:71535120C>T	ENST00000355327.3	+	5	731	c.597C>T	c.(595-597)tcC>tcT	p.S199S	THSD4_ENST00000261862.6_Silent_p.S199S			Q6ZMP0	THSD4_HUMAN	thrombospondin, type I, domain containing 4	199	TSP type-1 1.					proteinaceous extracellular matrix	metalloendopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						CCCGCCATTCCAGGTCCCAGG	0.567													11	114					0	0	1	0	0	T	71535120	C	T	71535120	2	4	340	1	0	0	0	0	0	0	0	1	15938	581	21	2		2	THSD4	15	71535120	Silent	SNP	C	TCGA-HW-8321-01A-11D-2395-08		71535120	30996272	31	31130											
WDR81	124997	broad.mit.edu	37	17	1639495	1639495	+	Missense_Mutation	SNP	G	G	A	rs145853218		TCGA-HW-8321-01A-11D-2395-08	TCGA-HW-8321-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6d82338-1b8a-4120-9ce1-f50906ed4540	1b40ef43-8209-45a5-9a71-467c400c19e0	g.chr17:1639495G>A	ENST00000409644.1	+	9	5488	c.5488G>A	c.(5488-5490)Gac>Aac	p.D1830N	WDR81_ENST00000419248.1_Missense_Mutation_p.D603N|WDR81_ENST00000545662.1_Missense_Mutation_p.D461N|RP11-961A15.1_ENST00000576540.1_RNA|WDR81_ENST00000437219.2_Missense_Mutation_p.D627N|WDR81_ENST00000309182.5_Missense_Mutation_p.D779N|WDR81_ENST00000446363.1_Missense_Mutation_p.D469N	NM_001163809.1	NP_001157281.1	B3KXU1	B3KXU1_HUMAN	WD repeat domain 81	603										cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		CCACGAGGGGGACATTCTGCA	0.677													4	70					0	0	1	0	0	A	1639495	G	A	1639495	3	1	340	1	0	0	0	0	1	0	0	0	17390	1174	41	2	5584	2	WDR81	17	1639495	Missense_Mutation	SNP	G	TCGA-HW-8321-01A-11D-2395-08		1639495	79555715	32	31131											
TP53	7157	broad.mit.edu	37	17	7577548	7577548	+	Missense_Mutation	SNP	C	C	T	rs28934575		TCGA-HW-8321-01A-11D-2395-08	TCGA-HW-8321-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6d82338-1b8a-4120-9ce1-f50906ed4540	1b40ef43-8209-45a5-9a71-467c400c19e0	g.chr17:7577548C>T	ENST00000420246.2	-	7	865	c.733G>A	c.(733-735)Ggc>Agc	p.G245S	TP53_ENST00000359597.4_Missense_Mutation_p.G245S|TP53_ENST00000413465.2_Missense_Mutation_p.G245S|TP53_ENST00000269305.4_Missense_Mutation_p.G245S|TP53_ENST00000445888.2_Missense_Mutation_p.G245S|TP53_ENST00000455263.2_Missense_Mutation_p.G245S	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	245	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		G -> A (in sporadic cancers; somatic mutation).|G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> E (in a sporadic cancer; somatic mutation).|G -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|G -> L (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934575).|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.G245S(304)|p.G245C(59)|p.G245R(10)|p.G152S(8)|p.0?(8)|p.?(5)|p.G152C(4)|p.G244_M246>V(3)|p.G245N(2)|p.G245fs*2(2)|p.G245H(1)|p.G245L(1)|p.G244fs*17(1)|p.G245F(1)|p.C242_M246>L(1)|p.C238_M246delCNSSCMGGM(1)|p.G245fs*22(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.M243fs*18(1)|p.G151_M153>V(1)|p.G245del(1)|p.G245fs*14(1)|p.G245fs*17(1)|p.G245fs*16(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CGGTTCATGCCGCCCATGCAG	0.577	G245S(LS1034_LARGE_INTESTINE)|G245S(NUGC2_STOMACH)|G245S(PANC0403_PANCREAS)|G245S(SKLMS1_SOFT_TISSUE)|G245S(SKMEL2_SKIN)	111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			46	16					0	0	1	0	0	T	7577548	C	T	7577548	3	4	340	1	0	0	0	0	1	0	0	0	16442	652	23	1	557	1	TP53	17	7577548	Missense_Mutation	SNP	C	TCGA-HW-8321-01A-11D-2395-08	5938053	7577548	73617662	33	31132											
USP43	124739	broad.mit.edu	37	17	9631874	9631874	+	Missense_Mutation	SNP	A	A	T			TCGA-HW-8321-01A-11D-2395-08	TCGA-HW-8321-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6d82338-1b8a-4120-9ce1-f50906ed4540	1b40ef43-8209-45a5-9a71-467c400c19e0	g.chr17:9631874A>T	ENST00000285199.7	+	15	3035	c.2939A>T	c.(2938-2940)gAc>gTc	p.D980V	USP43_ENST00000570475.1_Missense_Mutation_p.D975V|USP43_ENST00000570827.2_3'UTR	NM_001267576.1|NM_153210.4	NP_001254505.1|NP_694942.3	Q70EL4	UBP43_HUMAN	ubiquitin specific peptidase 43						ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	26						AACAGCAAAGACAGTCGCCGA	0.572													12	31					0	0	1	0	0	T	9631874	A	T	9631874	3	4	340	1	0	0	0	0	1	0	0	0	17134	275	10	5	2997	5	USP43	17	9631874	Missense_Mutation	SNP	A	TCGA-HW-8321-01A-11D-2395-08	2054326	9631874	71563336	34	31133											
DBF4B	80174	broad.mit.edu	37	17	42828250	42828250	+	Missense_Mutation	SNP	C	C	G			TCGA-HW-8321-01A-11D-2395-08	TCGA-HW-8321-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6d82338-1b8a-4120-9ce1-f50906ed4540	1b40ef43-8209-45a5-9a71-467c400c19e0	g.chr17:42828250C>G	ENST00000315005.3	+	14	1615	c.1477C>G	c.(1477-1479)Cca>Gca	p.P493A	DBF4B_ENST00000393547.2_Intron	NM_145663.2	NP_663696.1	Q8NFT6	DBF4B_HUMAN	DBF4 homolog B (S. cerevisiae)	493					cell cycle	nucleus	nucleic acid binding|zinc ion binding			kidney(1)|large_intestine(1)|lung(5)	7		Prostate(33;0.0322)				TGTTAAGGGCCCACTCCTCTT	0.592													49	103					0	0	1	0	0	G	42828250	C	G	42828250	3	3	340	1	0	0	0	0	1	0	0	0	4273	623	22	5	1576	5	DBF4B	17	42828250	Missense_Mutation	SNP	C	TCGA-HW-8321-01A-11D-2395-08	33196376	42828250	38366960	35	31134											
ZNF334	55713	broad.mit.edu	37	20	45131229	45131229	+	Missense_Mutation	SNP	G	G	A			TCGA-HW-8321-01A-11D-2395-08	TCGA-HW-8321-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6d82338-1b8a-4120-9ce1-f50906ed4540	1b40ef43-8209-45a5-9a71-467c400c19e0	g.chr20:45131229G>A	ENST00000457685.2	-	6	1958	c.635C>T	c.(634-636)tCt>tTt	p.S212F	ZNF334_ENST00000347606.4_Missense_Mutation_p.S250F|ZNF334_ENST00000593880.1_Missense_Mutation_p.S273F			Q9HCZ1	ZN334_HUMAN	zinc finger protein 334	250					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)				AATGAGGGTAGATCTCTTAGA	0.398													52	101					0	0	1	0	0	A	45131229	G	A	45131229	3	1	340	1	0	0	0	0	1	0	0	0	17908	942	33	2	1297	2	ZNF334	20	45131229	Missense_Mutation	SNP	G	TCGA-HW-8321-01A-11D-2395-08		45131229	17894291	36	31135											
MED14	9282	broad.mit.edu	37	X	40534573	40534573	+	Missense_Mutation	SNP	C	C	T			TCGA-HW-8321-01A-11D-2395-08	TCGA-HW-8321-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6d82338-1b8a-4120-9ce1-f50906ed4540	1b40ef43-8209-45a5-9a71-467c400c19e0	g.chrX:40534573C>T	ENST00000324817.1	-	22	3039	c.2921G>A	c.(2920-2922)cGa>cAa	p.R974Q	MED14_ENST00000496531.2_5'UTR	NM_004229.3	NP_004220.2	O60244	MED14_HUMAN	mediator complex subunit 14	974					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			NS(2)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						AGACCTTCTTCGAGCATCCTG	0.383													3	31					0	0	1	0	0	T	40534573	C	T	40534573	3	4	340	1	0	0	0	0	1	0	0	0	9482	884	31	1	1483	1	MED14	23	40534573	Missense_Mutation	SNP	C	TCGA-HW-8321-01A-11D-2395-08		40534573	114735987	37	31136											
TAS1R3	83756	broad.mit.edu	37	1	1267913	1267913	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HW-8322-01A-11D-2395-08	TCGA-HW-8322-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbb7361c-879c-4964-b6c8-07b5d8d4da46	088c5f2e-ee43-4263-9962-ef89954380a7	g.chr1:1267913delC	ENST00000339381.5	+	3	1034	c.1002delC	c.(1000-1002)ttcfs	p.F334fs		NM_152228.1	NP_689414	Q7RTX0	TS1R3_HUMAN	taste receptor, type 1, member 3	334					detection of chemical stimulus involved in sensory perception of sweet taste|sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity			kidney(2)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.88e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.146)	Aspartame(DB00168)	TGCACGAGTTCCCCCAGTACG	0.692													15	29	---	---	---	---						-	1267913	C	-	1267913	7	5	341	1	0	1	0	1	0	0	0	0	15621	854	30	0	1012	0	TAS1R3	1	1267913	Frame_Shift_Del	DEL	C	TCGA-HW-8322-01A-11D-2395-08		1267913	247982708	1	31137											
IPO13	9670	broad.mit.edu	37	1	44423086	44423086	+	Missense_Mutation	SNP	C	C	A			TCGA-HW-8322-01A-11D-2395-08	TCGA-HW-8322-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbb7361c-879c-4964-b6c8-07b5d8d4da46	088c5f2e-ee43-4263-9962-ef89954380a7	g.chr1:44423086C>A	ENST00000372343.3	+	7	2067	c.1405C>A	c.(1405-1407)Ctc>Atc	p.L469I	IPO13_ENST00000492152.1_3'UTR	NM_014652.3	NP_055467.3	O94829	IPO13_HUMAN	importin 13	469					protein import into nucleus	cytoplasm|nucleus	protein binding|protein transporter activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)				CACAGAGGCCCTCCTCTACGG	0.572													4	84					0.150653	0.150653	1	1	0	A	44423086	C	A	44423086	3	1	341	1	0	0	0	0	1	0	0	0	7838	681	24	4	1431	4	IPO13	1	44423086	Missense_Mutation	SNP	C	TCGA-HW-8322-01A-11D-2395-08	43155173	44423086	204827535	2	31138											
C8B	732	broad.mit.edu	37	1	57417781	57417781	+	Silent	SNP	C	C	T	rs34438223	byFrequency	TCGA-HW-8322-01A-11D-2395-08	TCGA-HW-8322-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbb7361c-879c-4964-b6c8-07b5d8d4da46	088c5f2e-ee43-4263-9962-ef89954380a7	g.chr1:57417781C>T	ENST00000543257.1	-	6	1016	c.450G>A	c.(448-450)ccG>ccA	p.P150P	C8B_ENST00000535057.1_Silent_p.P140P|C8B_ENST00000371237.4_Silent_p.P202P	NM_001278543.1	NP_001265472.1	P07358	CO8B_HUMAN	complement component 8, beta polypeptide	202	LDL-receptor class A.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex		p.P202P(1)		breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						GGATGTAATGCGGGGAGCATC	0.507													5	104					0	0	1	0	0	T	57417781	C	T	57417781	2	4	341	1	0	0	0	0	0	0	0	1	2433	755	27	1		1	C8B	1	57417781	Silent	SNP	C	TCGA-HW-8322-01A-11D-2395-08	12994695	57417781	191832840	3	31139											
KCNT2	343450	broad.mit.edu	37	1	196250118	196250118	+	Splice_Site	SNP	T	T	C			TCGA-HW-8322-01A-11D-2395-08	TCGA-HW-8322-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbb7361c-879c-4964-b6c8-07b5d8d4da46	088c5f2e-ee43-4263-9962-ef89954380a7	g.chr1:196250118T>C	ENST00000367433.5	-	24	2811	c.2710A>G	c.(2710-2712)Atg>Gtg	p.M904V	KCNT2_ENST00000609185.1_Splice_Site_p.M854V|KCNT2_ENST00000294725.9_Splice_Site_p.M928V|KCNT2_ENST00000451324.2_3'UTR|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000367431.4_Splice_Site_p.M854V	NM_198503.2	NP_940905.2	Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	928						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						GTGATTTTCATCTATAACACA	0.348													9	16					0	0	1	0	0	C	196250118	T	C	196250118	5	2	341	1	0	0	0	0	0	0	1	0	8136	1449	50	3	641	3	KCNT2	1	196250118	Splice_Site	SNP	T	TCGA-HW-8322-01A-11D-2395-08	138832337	196250118	53000503	4	31140											
C1orf186	440712	broad.mit.edu	37	1	206243208	206243208	+	Silent	SNP	G	G	A			TCGA-HW-8322-01A-11D-2395-08	TCGA-HW-8322-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbb7361c-879c-4964-b6c8-07b5d8d4da46	088c5f2e-ee43-4263-9962-ef89954380a7	g.chr1:206243208G>A	ENST00000331555.5	-	3	692	c.54C>T	c.(52-54)tcC>tcT	p.S18S		NM_001007544.1	NP_001007545.1	Q6ZWK4	CA186_HUMAN	chromosome 1 open reading frame 186	18						integral to membrane				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	9			BRCA - Breast invasive adenocarcinoma(75;0.0754)			GCAGGAAGAGGGACACCACCG	0.527													31	47					0	0	1	0	0	A	206243208	G	A	206243208	2	1	341	1	0	0	0	0	0	0	0	1	2033	1219	43	2		2	C1orf186	1	206243208	Silent	SNP	G	TCGA-HW-8322-01A-11D-2395-08	9993090	206243208	43007413	5	31141											
MIA3	375056	broad.mit.edu	37	1	222805521	222805521	+	Missense_Mutation	SNP	C	C	T			TCGA-HW-8322-01A-11D-2395-08	TCGA-HW-8322-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbb7361c-879c-4964-b6c8-07b5d8d4da46	088c5f2e-ee43-4263-9962-ef89954380a7	g.chr1:222805521C>T	ENST00000344922.5	+	5	3209	c.3184C>T	c.(3184-3186)Cat>Tat	p.H1062Y	MIA3_ENST00000470521.1_3'UTR|MIA3_ENST00000344507.1_Intron|MIA3_ENST00000344441.6_Missense_Mutation_p.H1062Y	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	1062					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)		GCAACCACTGCATGAAGATAA	0.498													16	99					0	0	1	0	0	T	222805521	C	T	222805521	3	4	341	1	0	0	0	0	1	0	0	0	9614	710	25	2	3202	2	MIA3	1	222805521	Missense_Mutation	SNP	C	TCGA-HW-8322-01A-11D-2395-08	16562313	222805521	26445100	6	31142											
SPR	6697	broad.mit.edu	37	2	73114723	73114723	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HW-8322-01A-11D-2395-08	TCGA-HW-8322-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbb7361c-879c-4964-b6c8-07b5d8d4da46	088c5f2e-ee43-4263-9962-ef89954380a7	g.chr2:73114723delG	ENST00000234454.5	+	1	235	c.162delG	c.(160-162)ctgfs	p.L54fs	SPR_ENST00000498749.1_3'UTR	NM_003124.4	NP_003115.1	P35270	SPRE_HUMAN	sepiapterin reductase (7,8-dihydrobiopterin:NADP+ oxidoreductase)	54					nitric oxide biosynthetic process|tetrahydrobiopterin biosynthetic process	cytoplasm	aldo-keto reductase (NADP) activity|NADP binding|sepiapterin reductase activity			lung(4)|ovary(2)	6						AGGCCGAGCTGGGCGCCGAGC	0.771													2	4	---	---	---	---						-	73114723	G	-	73114723	7	5	341	1	0	1	0	1	0	0	0	0	15147	1335	47	0	164	0	SPR	2	73114723	Frame_Shift_Del	DEL	G	TCGA-HW-8322-01A-11D-2395-08		73114723	170084650	7	31143											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-HW-8322-01A-11D-2395-08	TCGA-HW-8322-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbb7361c-879c-4964-b6c8-07b5d8d4da46	088c5f2e-ee43-4263-9962-ef89954380a7	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	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								28	47					0	0	1	0	0	T	209113112	C	T	209113112	3	4	341	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HW-8322-01A-11D-2395-08	135998389	209113112	34086261	8	31144											
NEU2	4759	broad.mit.edu	37	2	233898908	233898909	+	Frame_Shift_Ins	INS	-	-	G			TCGA-HW-8322-01A-11D-2395-08	TCGA-HW-8322-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbb7361c-879c-4964-b6c8-07b5d8d4da46	088c5f2e-ee43-4263-9962-ef89954380a7	g.chr2:233898908_233898909insG	ENST00000233840.3	+	2	284_285	c.284_285insG	c.(283-288)acggggfs	p.TG95fs		NM_005383.2	NP_005374.2	Q9Y3R4	NEUR2_HUMAN	sialidase 2 (cytosolic sialidase)	95							exo-alpha-sialidase activity			endometrium(3)|large_intestine(2)|lung(10)|skin(2)|urinary_tract(1)	18		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0271)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0839)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0488)		GACGCGCAGACGGGGACCCTCT	0.619													32	157	---	---	---	---						G	233898909	-	G	233898908	7	5	341	1	0	1	1	0	0	0	0	0	10389	536	19	0	290	0	NEU2	2	233898908	Frame_Shift_Ins	INS	-	TCGA-HW-8322-01A-11D-2395-08	24785796	233898908	9300465	9	31145											
ROBO1	6091	broad.mit.edu	37	3	78685111	78685111	+	Missense_Mutation	SNP	C	C	T			TCGA-HW-8322-01A-11D-2395-08	TCGA-HW-8322-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbb7361c-879c-4964-b6c8-07b5d8d4da46	088c5f2e-ee43-4263-9962-ef89954380a7	g.chr3:78685111C>T	ENST00000436010.2	-	21	4065	c.3068G>A	c.(3067-3069)cGt>cAt	p.R1023H	ROBO1_ENST00000495273.1_Missense_Mutation_p.R1017H|ROBO1_ENST00000467549.1_Intron|ROBO1_ENST00000464233.1_Missense_Mutation_p.R1062H			Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	1062					activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding	p.R1039H(1)		breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		ATTGACAAAACGCCCATCCTT	0.473													60	70					0	0	1	0	0	T	78685111	C	T	78685111	3	4	341	1	0	0	0	0	1	0	0	0	13565	536	19	1	1806	1	ROBO1	3	78685111	Missense_Mutation	SNP	C	TCGA-HW-8322-01A-11D-2395-08		78685111	119337319	10	31146											
ARL6	84100	broad.mit.edu	37	3	97487028	97487028	+	Missense_Mutation	SNP	A	A	G			TCGA-HW-8322-01A-11D-2395-08	TCGA-HW-8322-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbb7361c-879c-4964-b6c8-07b5d8d4da46	088c5f2e-ee43-4263-9962-ef89954380a7	g.chr3:97487028A>G	ENST00000463745.1	+	2	554	c.77A>G	c.(76-78)gAt>gGt	p.D26G	ARL6_ENST00000335979.2_Missense_Mutation_p.D26G|ARL6_ENST00000394206.1_Missense_Mutation_p.D26G|ARL6_ENST00000496713.1_3'UTR	NM_001278293.1	NP_001265222.1	Q9H0F7	ARL6_HUMAN	ADP-ribosylation factor-like 6	26					cilium assembly|determination of left/right symmetry|melanosome transport|protein polymerization|protein targeting to membrane|small GTPase mediated signal transduction|visual perception|Wnt receptor signaling pathway	axonemal microtubule|cilium axoneme|cilium membrane|membrane coat|microtubule basal body	GTP binding|metal ion binding|phospholipid binding|protein binding			large_intestine(1)|lung(4)	5		Lung NSC(201;0.0193)|Prostate(884;0.174)		LUSC - Lung squamous cell carcinoma(29;0.0118)|Lung(72;0.0189)		CTTGGGCTAGATAATAGTGGC	0.338													9	47					0	0	1	0	0	G	97487028	A	G	97487028	3	3	341	1	0	0	0	0	1	0	0	0	940	333	12	3	79	3	ARL6	3	97487028	Missense_Mutation	SNP	A	TCGA-HW-8322-01A-11D-2395-08	18801917	97487028	100535402	11	31147											
RAD17	5884	broad.mit.edu	37	5	68689027	68689027	+	Missense_Mutation	SNP	T	T	C			TCGA-HW-8322-01A-11D-2395-08	TCGA-HW-8322-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbb7361c-879c-4964-b6c8-07b5d8d4da46	088c5f2e-ee43-4263-9962-ef89954380a7	g.chr5:68689027T>C	ENST00000509734.1	+	13	1946	c.1268T>C	c.(1267-1269)tTa>tCa	p.L423S	RAD17_ENST00000282891.6_Missense_Mutation_p.L326S|RAD17_ENST00000354868.5_Missense_Mutation_p.L412S|RAD17_ENST00000345306.6_Missense_Mutation_p.L412S|RAD17_ENST00000504177.1_Intron|RAD17_ENST00000354312.3_Missense_Mutation_p.L412S|RAD17_ENST00000305138.4_Missense_Mutation_p.L412S|RAD17_ENST00000380774.3_Missense_Mutation_p.L423S|RAD17_ENST00000521422.1_Missense_Mutation_p.L247S|RAD17_ENST00000358030.2_Missense_Mutation_p.L247S|RAD17_ENST00000361732.2_Missense_Mutation_p.L412S			O75943	RAD17_HUMAN	RAD17 homolog (S. pombe)	423					cell cycle|DNA damage checkpoint|DNA repair|DNA replication|DNA replication checkpoint|mitotic cell cycle checkpoint|negative regulation of DNA replication|regulation of phosphorylation	nucleoplasm	ATP binding|nucleoside-triphosphatase activity|protein binding						Lung NSC(167;5.19e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;9.36e-57)|Epithelial(20;1.21e-52)|all cancers(19;3.34e-48)|Lung(70;0.0183)		CCCTCTCATTTATCAGAATAT	0.313								Other conserved DNA damage response genes					13	20					0	0	1	0	0	C	68689027	T	C	68689027	3	2	341	1	0	0	0	0	1	0	0	0	13031	1764	61	3	1323	3	RAD17	5	68689027	Missense_Mutation	SNP	T	TCGA-HW-8322-01A-11D-2395-08		68689027	112226233	12	31148											
KCNN2	3781	broad.mit.edu	37	5	113698887	113698887	+	Missense_Mutation	SNP	C	C	T			TCGA-HW-8322-01A-11D-2395-08	TCGA-HW-8322-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbb7361c-879c-4964-b6c8-07b5d8d4da46	088c5f2e-ee43-4263-9962-ef89954380a7	g.chr5:113698887C>T	ENST00000512097.3	+	2	1433	c.415C>T	c.(415-417)Ctc>Ttc	p.L139F	KCNN2_ENST00000507750.1_3'UTR|KCNN2_ENST00000264773.3_Missense_Mutation_p.L139F			Q9H2S1	KCNN2_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2	139						integral to membrane	calmodulin binding|small conductance calcium-activated potassium channel activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)		CGACTACGCGCTCATCTTCGG	0.597													17	51					0	0	1	0	0	T	113698887	C	T	113698887	3	4	341	1	0	0	0	0	1	0	0	0	8123	797	28	2	417	2	KCNN2	5	113698887	Missense_Mutation	SNP	C	TCGA-HW-8322-01A-11D-2395-08	45009860	113698887	67216373	13	31149											
GPR6	2830	broad.mit.edu	37	6	110301179	110301179	+	Silent	SNP	C	C	T			TCGA-HW-8322-01A-11D-2395-08	TCGA-HW-8322-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbb7361c-879c-4964-b6c8-07b5d8d4da46	088c5f2e-ee43-4263-9962-ef89954380a7	g.chr6:110301179C>T	ENST00000414000.2	+	3	1148	c.909C>T	c.(907-909)ttC>ttT	p.F303F	GPR6_ENST00000275169.3_Silent_p.F288F			P46095	GPR6_HUMAN	G protein-coupled receptor 6	288						integral to plasma membrane				breast(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)	18		all_cancers(87;1.64e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;2.83e-05)|all_lung(197;0.00016)|Lung NSC(302;0.000318)|Colorectal(196;0.0488)		BRCA - Breast invasive adenocarcinoma(108;8.01e-05)|Epithelial(106;8.76e-05)|all cancers(137;0.000197)|OV - Ovarian serous cystadenocarcinoma(136;0.0307)		TGGGCACTTTCGGCGCCAGCT	0.657													4	77					0	0	1	0	0	T	110301179	C	T	110301179	2	4	341	1	0	0	0	0	0	0	0	1	6741	883	31	1		1	GPR6	6	110301179	Silent	SNP	C	TCGA-HW-8322-01A-11D-2395-08		110301179	60813888	14	31150											
TBRG4	9238	broad.mit.edu	37	7	45144244	45144244	+	Missense_Mutation	SNP	G	G	A	rs146485929	byFrequency	TCGA-HW-8322-01A-11D-2395-08	TCGA-HW-8322-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbb7361c-879c-4964-b6c8-07b5d8d4da46	088c5f2e-ee43-4263-9962-ef89954380a7	g.chr7:45144244G>A	ENST00000258770.3	-	4	921	c.800C>T	c.(799-801)gCt>gTt	p.A267V	TBRG4_ENST00000494076.1_Missense_Mutation_p.A267V|TBRG4_ENST00000395655.4_Intron|TBRG4_ENST00000361278.3_Intron	NM_004749.3	NP_004740.2	Q969Z0	TBRG4_HUMAN	transforming growth factor beta regulator 4	267					apoptosis|cell cycle arrest|cellular respiration|G1 phase of mitotic cell cycle|positive regulation of cell proliferation	mitochondrion	ATP binding|protein binding|protein kinase activity			cervix(1)|endometrium(3)|large_intestine(2)|lung(8)|skin(1)|stomach(2)	17						CCGGCTCTGAGCTGCCAGCAT	0.612													4	68					0	0	1	0	0	A	45144244	G	A	45144244	3	1	341	1	0	0	0	0	1	0	0	0	15709	971	34	2	1127	2	TBRG4	7	45144244	Missense_Mutation	SNP	G	TCGA-HW-8322-01A-11D-2395-08		45144244	113994419	15	31151											
SERPINE1	5054	broad.mit.edu	37	7	100779018	100779018	+	Silent	SNP	G	G	A			TCGA-HW-8322-01A-11D-2395-08	TCGA-HW-8322-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbb7361c-879c-4964-b6c8-07b5d8d4da46	088c5f2e-ee43-4263-9962-ef89954380a7	g.chr7:100779018G>A	ENST00000223095.4	+	7	1180	c.1023G>A	c.(1021-1023)gcG>gcA	p.A341A	SERPINE1_ENST00000445463.2_Silent_p.A326A	NM_000602.4	NP_000593.1	P05121	PAI1_HUMAN	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	341					angiogenesis|cellular response to chemical stimulus|cellular response to lipopolysaccharide|chronological cell aging|defense response to Gram-negative bacterium|fibrinolysis|negative regulation of apoptosis|negative regulation of cell adhesion mediated by integrin|negative regulation of fibrinolysis|negative regulation of plasminogen activation|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell-matrix adhesion|negative regulation of vascular wound healing|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of interleukin-8 production|positive regulation of leukotriene production involved in inflammatory response|positive regulation of monocyte chemotaxis|positive regulation of receptor-mediated endocytosis|regulation of receptor activity	extracellular matrix|extracellular space|plasma membrane|platelet alpha granule lumen	protease binding|serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)	20	Lung NSC(181;0.136)|all_lung(186;0.182)				Atorvastatin(DB01076)|Dimethyl sulfoxide(DB01093)|Drotrecogin alfa(DB00055)|Simvastatin(DB00641)|Tenecteplase(DB00031)|Troglitazone(DB00197)|Urokinase(DB00013)	TCCACGTCGCGCAGGCGCTGC	0.587													33	95					0	0	1	0	0	A	100779018	G	A	100779018	2	1	341	1	0	0	0	0	0	0	0	1	14165	1074	38	1		1	SERPINE1	7	100779018	Silent	SNP	G	TCGA-HW-8322-01A-11D-2395-08	55634774	100779018	58359645	16	31152											
NOTCH1	4851	broad.mit.edu	37	9	139395301	139395301	+	Splice_Site	SNP	T	T	G			TCGA-HW-8322-01A-11D-2395-08	TCGA-HW-8322-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbb7361c-879c-4964-b6c8-07b5d8d4da46	088c5f2e-ee43-4263-9962-ef89954380a7	g.chr9:139395301T>G	ENST00000277541.6	-	31	5714		c.e31-2			NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1						aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		TGAAGCCATCTGCAGAGGCAG	0.701			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			3	30					0	0	1	0	0	G	139395301	T	G	139395301	5	3	341	1	0	0	0	0	0	0	1	0	10594	1594	55	5	2046	5	NOTCH1	9	139395301	Splice_Site	SNP	T	TCGA-HW-8322-01A-11D-2395-08		139395301	1818130	17	31153											
NOTCH1	4851	broad.mit.edu	37	9	139399848	139399848	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HW-8322-01A-11D-2395-08	TCGA-HW-8322-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbb7361c-879c-4964-b6c8-07b5d8d4da46	088c5f2e-ee43-4263-9962-ef89954380a7	g.chr9:139399848delG	ENST00000277541.6	-	25	4575	c.4500delC	c.(4498-4500)ttcfs	p.F1500fs		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1500					aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GGCCGTCACTGAAGTACTTCC	0.617			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			18	21	---	---	---	---						-	139399848	G	-	139399848	7	5	341	1	0	1	0	1	0	0	0	0	10594	1281	45	0	3207	0	NOTCH1	9	139399848	Frame_Shift_Del	DEL	G	TCGA-HW-8322-01A-11D-2395-08	4547	139399848	1813583	18	31154											
BRAP	8315	broad.mit.edu	37	12	112110475	112110475	+	Missense_Mutation	SNP	T	T	C	rs150096881		TCGA-HW-8322-01A-11D-2395-08	TCGA-HW-8322-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbb7361c-879c-4964-b6c8-07b5d8d4da46	088c5f2e-ee43-4263-9962-ef89954380a7	g.chr12:112110475T>C	ENST00000419234.4	-	5	930	c.737A>G	c.(736-738)aAa>aGa	p.K246R	BRAP_ENST00000327551.6_Missense_Mutation_p.K216R|BRAP_ENST00000539060.1_Intron	NM_006768.3	NP_006759.3	Q7Z569	BRAP_HUMAN	BRCA1 associated protein	246					MAPKKK cascade|negative regulation of signal transduction|Ras protein signal transduction	cytoplasm|ubiquitin ligase complex	identical protein binding|nuclear localization sequence binding|nucleotide binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	20						ATCTTCAGATTTGAGCACTTC	0.363													27	46					0	0	1	0	0	C	112110475	T	C	112110475	3	2	341	1	0	0	0	0	1	0	0	0	1499	1841	64	3	1073	3	BRAP	12	112110475	Missense_Mutation	SNP	T	TCGA-HW-8322-01A-11D-2395-08		112110475	21741420	19	31155											
REC8	9985	broad.mit.edu	37	14	24642224	24642224	+	Missense_Mutation	SNP	A	A	G			TCGA-HW-8322-01A-11D-2395-08	TCGA-HW-8322-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbb7361c-879c-4964-b6c8-07b5d8d4da46	088c5f2e-ee43-4263-9962-ef89954380a7	g.chr14:24642224A>G	ENST00000311457.3	+	4	841	c.242A>G	c.(241-243)tAt>tGt	p.Y81C	REC8_ENST00000559919.1_Missense_Mutation_p.Y81C			O95072	REC8_HUMAN	REC8 meiotic recombination protein	81					mitotic metaphase/anaphase transition|mitotic prometaphase|reciprocal meiotic recombination|sister chromatid cohesion	nucleoplasm				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15				GBM - Glioblastoma multiforme(265;0.00839)		ATCCGCGTCTATTCTCAACAA	0.617													52	78					0	0	1	0	0	G	24642224	A	G	24642224	3	3	341	1	0	0	0	0	1	0	0	0	13251	449	16	3	252	3	REC8	14	24642224	Missense_Mutation	SNP	A	TCGA-HW-8322-01A-11D-2395-08		24642224	82707316	20	31156											
EML5	161436	broad.mit.edu	37	14	89160703	89160703	+	Silent	SNP	A	A	T			TCGA-HW-8322-01A-11D-2395-08	TCGA-HW-8322-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbb7361c-879c-4964-b6c8-07b5d8d4da46	088c5f2e-ee43-4263-9962-ef89954380a7	g.chr14:89160703A>T	ENST00000554922.1	-	17	2735	c.2487T>A	c.(2485-2487)ccT>ccA	p.P829P	EML5_ENST00000380664.5_Silent_p.P829P|EML5_ENST00000352093.5_Silent_p.P829P	NM_183387.2	NP_899243.1	Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like 5	829						cytoplasm|microtubule				breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						TTAGTTTATCAGGCACATAGG	0.308													2	4					0	0	1	0	0	T	89160703	A	T	89160703	2	4	341	1	0	0	0	0	0	0	0	1	5128	175	7	5		5	EML5	14	89160703	Silent	SNP	A	TCGA-HW-8322-01A-11D-2395-08	64518479	89160703	18188837	21	31157											
ADSSL1	122622	broad.mit.edu	37	14	105209429	105209429	+	Missense_Mutation	SNP	G	G	A			TCGA-HW-8322-01A-11D-2395-08	TCGA-HW-8322-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbb7361c-879c-4964-b6c8-07b5d8d4da46	088c5f2e-ee43-4263-9962-ef89954380a7	g.chr14:105209429G>A	ENST00000332972.5	+	10	1262	c.1103G>A	c.(1102-1104)cGc>cAc	p.R368H	ADSSL1_ENST00000330877.2_Missense_Mutation_p.R325H	NM_199165.1	NP_954634.1	Q8N142	PURA1_HUMAN	adenylosuccinate synthase like 1	325					AMP biosynthetic process|immune system process|purine base metabolic process	cytosol	adenylosuccinate synthase activity|GTP binding|magnesium ion binding|phosphate binding			central_nervous_system(1)|cervix(1)|kidney(1)|lung(5)|ovary(2)|prostate(1)	11		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00153)|OV - Ovarian serous cystadenocarcinoma(23;0.0148)|Epithelial(46;0.0396)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.18)	L-Aspartic Acid(DB00128)	CTGCAGACCCGCGGCCACGAG	0.612													44	66					0	0	1	0	0	A	105209429	G	A	105209429	3	1	341	1	0	0	0	0	1	0	0	0	347	1087	38	1	1337	1	ADSSL1	14	105209429	Missense_Mutation	SNP	G	TCGA-HW-8322-01A-11D-2395-08	16048726	105209429	2140111	22	31158											
MYH3	4621	broad.mit.edu	37	17	10536939	10536939	+	Missense_Mutation	SNP	G	G	C			TCGA-HW-8322-01A-11D-2395-08	TCGA-HW-8322-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbb7361c-879c-4964-b6c8-07b5d8d4da46	088c5f2e-ee43-4263-9962-ef89954380a7	g.chr17:10536939G>C	ENST00000583535.1	-	33	4703	c.4616C>G	c.(4615-4617)gCt>gGt	p.A1539G	MYH3_ENST00000226209.7_Missense_Mutation_p.A1539G	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	1539					muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						CTGGATATCAGCCTTTTCCAG	0.527													5	94					0	0	1	0	0	C	10536939	G	C	10536939	3	2	341	1	0	0	0	0	1	0	0	0	10084	971	34	4	1242	4	MYH3	17	10536939	Missense_Mutation	SNP	G	TCGA-HW-8322-01A-11D-2395-08		10536939	70658271	23	31159											
PIP4K2B	8396	broad.mit.edu	37	17	36936783	36936783	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HW-8322-01A-11D-2395-08	TCGA-HW-8322-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbb7361c-879c-4964-b6c8-07b5d8d4da46	088c5f2e-ee43-4263-9962-ef89954380a7	g.chr17:36936783delG	ENST00000269554.3	-	4	909	c.429delC	c.(427-429)tacfs	p.Y143fs	PIP4K2B_ENST00000311500.6_5'UTR	NM_003559.4	NP_003550.1	P78356	PI42B_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type II, beta	143	PIPK.				cell surface receptor linked signaling pathway	endoplasmic reticulum membrane|plasma membrane	1-phosphatidylinositol-4-phosphate 5-kinase activity|1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding|receptor signaling protein activity			endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)	19						AGCGCCGGTCGTAGGTGGTGA	0.552													10	166	---	---	---	---						-	36936783	G	-	36936783	7	5	341	1	0	1	0	1	0	0	0	0	11985	1140	40	0	849	0	PIP4K2B	17	36936783	Frame_Shift_Del	DEL	G	TCGA-HW-8322-01A-11D-2395-08	26399844	36936783	44258427	24	31160											
SMARCA4	6597	broad.mit.edu	37	19	11143994	11143994	+	Missense_Mutation	SNP	G	G	A			TCGA-HW-8322-01A-11D-2395-08	TCGA-HW-8322-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbb7361c-879c-4964-b6c8-07b5d8d4da46	088c5f2e-ee43-4263-9962-ef89954380a7	g.chr19:11143994G>A	ENST00000358026.2	+	26	3859	c.3575G>A	c.(3574-3576)cGc>cAc	p.R1192H	SMARCA4_ENST00000429416.3_Missense_Mutation_p.R1192H|SMARCA4_ENST00000444061.3_Missense_Mutation_p.R1192H|SMARCA4_ENST00000590574.1_Missense_Mutation_p.R1192H|SMARCA4_ENST00000344626.4_Missense_Mutation_p.R1192H|SMARCA4_ENST00000413806.3_Missense_Mutation_p.R1192H|SMARCA4_ENST00000589677.1_Missense_Mutation_p.R1192H|SMARCA4_ENST00000450717.3_Missense_Mutation_p.R1192H|SMARCA4_ENST00000541122.2_Missense_Mutation_p.R1192H	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	1192	Helicase C-terminal.				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				CGAGCCCACCGCATCGGGCAG	0.612			"F, N, Mis"		NSCLC								33	70					0	0	1	0	0	A	11143994	G	A	11143994	3	1	341	1	0	0	0	0	1	0	0	0	14824	1087	38	1	3673	1	SMARCA4	19	11143994	Missense_Mutation	SNP	G	TCGA-HW-8322-01A-11D-2395-08		11143994	47984989	25	31161											
GIPC1	10755	broad.mit.edu	37	19	14591417	14591417	+	Silent	SNP	G	G	A			TCGA-HW-8322-01A-11D-2395-08	TCGA-HW-8322-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbb7361c-879c-4964-b6c8-07b5d8d4da46	088c5f2e-ee43-4263-9962-ef89954380a7	g.chr19:14591417G>A	ENST00000393033.4	-	5	731	c.462C>T	c.(460-462)taC>taT	p.Y154Y	GIPC1_ENST00000345425.2_Silent_p.Y154Y|GIPC1_ENST00000586027.1_Silent_p.Y154Y|GIPC1_ENST00000393029.3_Silent_p.Y57Y|GIPC1_ENST00000591349.1_Silent_p.Y57Y|GIPC1_ENST00000393028.1_Silent_p.Y57Y	NM_005716.3	NP_005707.1	O14908	GIPC1_HUMAN	GIPC PDZ domain containing family, member 1	154	PDZ.				endothelial cell migration|G-protein coupled receptor protein signaling pathway|glutamate secretion|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|protein targeting|regulation of protein stability|regulation of synaptic plasticity|synaptic transmission	cell cortex|dendritic shaft|dendritic spine|membrane fraction|soluble fraction|synaptic vesicle|vesicle membrane	actin binding|myosin binding|protein homodimerization activity|receptor binding			endometrium(1)|lung(4)|upper_aerodigestive_tract(1)	6						TGATGAAGGCGTAGCCAGCCC	0.657											OREG0025316	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	53	60					0	0	1	0	0	A	14591417	G	A	14591417	2	1	341	1	0	0	0	0	0	0	0	1	6434	1140	40	1		1	GIPC1	19	14591417	Silent	SNP	G	TCGA-HW-8322-01A-11D-2395-08	3447423	14591417	44537566	26	31162											
TFPT	29844	broad.mit.edu	37	19	54611508	54611508	+	Missense_Mutation	SNP	G	G	A			TCGA-HW-8322-01A-11D-2395-08	TCGA-HW-8322-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbb7361c-879c-4964-b6c8-07b5d8d4da46	088c5f2e-ee43-4263-9962-ef89954380a7	g.chr19:54611508G>A	ENST00000391759.1	-	5	872	c.467C>T	c.(466-468)gCg>gTg	p.A156V	TFPT_ENST00000391757.1_Missense_Mutation_p.R144W|TFPT_ENST00000391758.1_Missense_Mutation_p.A147V|NDUFA3_ENST00000391764.3_Intron	NM_013342.3	NP_037474.1	P0C1Z6	TFPT_HUMAN	TCF3 (E2A) fusion partner (in childhood Leukemia)	156					apoptosis|DNA recombination|DNA repair|induction of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|Ino80 complex	DNA binding|protein binding			large_intestine(2)|lung(2)	4	all_cancers(19;0.004)|all_epithelial(19;0.00195)|all_lung(19;0.0193)|Lung NSC(19;0.0358)|Breast(117;0.137)|Ovarian(34;0.19)					CTCATTCTCCGCATTGCCTGG	0.677			T	TCF3	pre-B ALL								10	9					0	0	1	0	0	A	54611508	G	A	54611508	3	1	341	1	0	0	0	0	1	0	0	0	15870	1087	38	1	302	1	TFPT	19	54611508	Missense_Mutation	SNP	G	TCGA-HW-8322-01A-11D-2395-08	40020091	54611508	4517475	27	31163											
HUNK	30811	broad.mit.edu	37	21	33371363	33371363	+	Missense_Mutation	SNP	A	A	C			TCGA-HW-8322-01A-11D-2395-08	TCGA-HW-8322-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbb7361c-879c-4964-b6c8-07b5d8d4da46	088c5f2e-ee43-4263-9962-ef89954380a7	g.chr21:33371363A>C	ENST00000270112.2	+	11	2371	c.2011A>C	c.(2011-2013)Atg>Ctg	p.M671L		NM_014586.1	NP_055401.1	P57058	HUNK_HUMAN	hormonally up-regulated Neu-associated kinase	671					multicellular organismal development|signal transduction		ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(2)|stomach(1)	30						CATCGGACAGATGTTAAGGAA	0.617													5	122					0	0	1	0	0	C	33371363	A	C	33371363	3	2	341	1	0	0	0	0	1	0	0	0	7502	333	12	4	2053	4	HUNK	21	33371363	Missense_Mutation	SNP	A	TCGA-HW-8322-01A-11D-2395-08		33371363	14758532	28	31164											
TTC3	7267	broad.mit.edu	37	21	38568034	38568035	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HW-8322-01A-11D-2395-08	TCGA-HW-8322-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbb7361c-879c-4964-b6c8-07b5d8d4da46	088c5f2e-ee43-4263-9962-ef89954380a7	g.chr21:38568034_38568035insT	ENST00000399017.2	+	42	8023_8024	c.5276_5277insT	c.(5275-5280)tctgcafs	p.A1760fs	TTC3_ENST00000355666.1_Frame_Shift_Ins_p.A1760fs|TTC3_ENST00000479930.1_3'UTR|TTC3_ENST00000354749.2_Frame_Shift_Ins_p.A1760fs	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	1760					protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				CTTGTGACTTCTGCAAGCGACG	0.569													7	344	---	---	---	---						T	38568035	-	T	38568034	7	5	341	1	0	1	1	0	0	0	0	0	16759	913	32	0	5438	0	TTC3	21	38568034	Frame_Shift_Ins	INS	-	TCGA-HW-8322-01A-11D-2395-08	5196671	38568034	9561861	29	31165											
BCR	613	broad.mit.edu	37	22	23523557	23523557	+	Missense_Mutation	SNP	C	C	T			TCGA-HW-8322-01A-11D-2395-08	TCGA-HW-8322-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbb7361c-879c-4964-b6c8-07b5d8d4da46	088c5f2e-ee43-4263-9962-ef89954380a7	g.chr22:23523557C>T	ENST00000305877.8	+	1	1161	c.410C>T	c.(409-411)gCc>gTc	p.A137V	BCR_ENST00000398512.5_Missense_Mutation_p.A137V|BCR_ENST00000359540.3_Missense_Mutation_p.A137V	NM_004327.3	NP_004318.3	P11274	BCR_HUMAN	breakpoint cluster region	137	Kinase.				regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	ATP binding|GTPase activator activity|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity		BCR/JAK2(6)	central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	35						CCCGGGGCAGCCGCGTCGGGG	0.801			T	"ABL1,  FGFR1, JAK2 "	"CML, ALL, AML"								3	37					0	0	1	0	0	T	23523557	C	T	23523557	3	4	341	1	0	0	0	0	1	0	0	0	1386	739	26	2	412	2	BCR	22	23523557	Missense_Mutation	SNP	C	TCGA-HW-8322-01A-11D-2395-08		23523557	27781009	30	31166											
APOL1	8542	broad.mit.edu	37	22	36661324	36661324	+	Missense_Mutation	SNP	A	A	G			TCGA-HW-8322-01A-11D-2395-08	TCGA-HW-8322-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbb7361c-879c-4964-b6c8-07b5d8d4da46	088c5f2e-ee43-4263-9962-ef89954380a7	g.chr22:36661324A>G	ENST00000319136.4	+	7	757	c.490A>G	c.(490-492)Aaa>Gaa	p.K164E	APOL1_ENST00000397279.4_Missense_Mutation_p.K148E|APOL1_ENST00000440669.2_3'UTR|APOL1_ENST00000426053.1_Missense_Mutation_p.K130E|APOL1_ENST00000347595.7_Missense_Mutation_p.K27E|APOL1_ENST00000397278.3_Missense_Mutation_p.K148E|APOL1_ENST00000422706.1_Missense_Mutation_p.K148E	NM_145343.2	NP_663318.1	O14791	APOL1_HUMAN	apolipoprotein L, 1	148					cholesterol metabolic process|cytolysis|innate immune response|killing of cells of other organism|lipid transport|lipoprotein metabolic process	high-density lipoprotein particle|very-low-density lipoprotein particle	chloride channel activity|lipid binding|protein binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	14						TCCTCGGTTGAAAAGTGAGCT	0.478													62	93					0	0	1	0	0	G	36661324	A	G	36661324	3	3	341	1	0	0	0	0	1	0	0	0	802	247	9	3	512	3	APOL1	22	36661324	Missense_Mutation	SNP	A	TCGA-HW-8322-01A-11D-2395-08	13137767	36661324	14643242	31	31167											
VCX3B	425054	broad.mit.edu	37	X	8434346	8434346	+	Silent	SNP	G	G	A	rs808146		TCGA-HW-8322-01A-11D-2395-08	TCGA-HW-8322-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbb7361c-879c-4964-b6c8-07b5d8d4da46	088c5f2e-ee43-4263-9962-ef89954380a7	g.chrX:8434346G>A	ENST00000381032.1	+	3	970	c.663G>A	c.(661-663)gaG>gaA	p.E221E	VCX3B_ENST00000444481.1_Silent_p.E191E|VCX3B_ENST00000381029.4_Silent_p.E189E|VCX3B_ENST00000440654.2_Silent_p.E171E|VCX3B_ENST00000453306.1_Intron	NM_001001888.3	NP_001001888.3	Q9H321	VCX3B_HUMAN	variable charge, X-linked 3B	0						nucleolus				NS(1)|large_intestine(1)|lung(2)|prostate(1)|skin(3)|urinary_tract(3)	11						GCCAGGTGGAGGAACCACTGA	0.557													6	90					0	0	1	0	0	A	8434346	G	A	8434346	2	1	341	1	0	0	0	0	0	0	0	1	17205	991	35	2		2	VCX3B	23	8434346	Silent	SNP	G	TCGA-HW-8322-01A-11D-2395-08		8434346	146836214	32	31168											
LRRC8B	23507	broad.mit.edu	37	1	90049110	90049110	+	Missense_Mutation	SNP	C	C	T			TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr1:90049110C>T	ENST00000330947.2	+	5	1261	c.901C>T	c.(901-903)Cgc>Tgc	p.R301C	LRRC8B_ENST00000439853.1_Missense_Mutation_p.R301C|LRRC8B_ENST00000358200.4_Missense_Mutation_p.R301C|RP5-1007M22.2_ENST00000443562.1_RNA	NM_001134476.1	NP_001127948.1	Q6P9F7	LRC8B_HUMAN	leucine rich repeat containing 8 family, member B	301						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	26		all_lung(203;0.17)		all cancers(265;0.00515)|Epithelial(280;0.0241)		AGGATATAAGCGCTACCAGTG	0.383													49	30					0	0	1	0	0	T	90049110	C	T	90049110	3	4	342	1	0	0	0	0	1	0	0	0	9067	768	27	1	903	1	LRRC8B	1	90049110	Missense_Mutation	SNP	C	TCGA-HW-A5KJ-01A-12D-A27K-08		90049110	159201511	1	31169											
PI4KB	5298	broad.mit.edu	37	1	151265460	151265461	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr1:151265460_151265461delTT	ENST00000368875.2	-	13	2934_2935	c.2354_2355delAA	c.(2353-2355)aaafs	p.K785fs	PI4KB_ENST00000271657.5_Frame_Shift_Del_p.K785fs|PI4KB_ENST00000368874.4_Frame_Shift_Del_p.K758fs|PI4KB_ENST00000368872.1_Frame_Shift_Del_p.K758fs|PI4KB_ENST00000529142.1_Frame_Shift_Del_p.K441fs|PI4KB_ENST00000368873.1_Frame_Shift_Del_p.K773fs	NM_002651.2	NP_002642.1	Q9UBF8	PI4KB_HUMAN	phosphatidylinositol 4-kinase, catalytic, beta	773					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|receptor-mediated endocytosis	endosome|Golgi apparatus|mitochondrial outer membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum membrane	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			breast(3)|endometrium(5)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GGAACCTCTCTTTGAGGTTTCG	0.564													46	55	---	---	---	---						-	151265461	TT	-	151265460	7	5	342	1	0	1	0	1	0	0	0	0	11922	1606	56	0	135	0	PI4KB	1	151265460	Frame_Shift_Del	DEL	TT	TCGA-HW-A5KJ-01A-12D-A27K-08	61216350	151265460	97985161	2	31170											
FLG	2312	broad.mit.edu	37	1	152281299	152281299	+	Silent	SNP	G	G	A			TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr1:152281299G>A	ENST00000368799.1	-	3	6098	c.6063C>T	c.(6061-6063)ggC>ggT	p.G2021G	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2021	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CATGCCCAATGCCTGAGTGTC	0.547									Ichthyosis				25	1025					0	0	1	0	0	A	152281299	G	A	152281299	2	1	342	1	0	0	0	0	0	0	0	1	5955	1306	46	2		2	FLG	1	152281299	Silent	SNP	G	TCGA-HW-A5KJ-01A-12D-A27K-08	1015839	152281299	96969322	3	31171											
NAV1	89796	broad.mit.edu	37	1	201752572	201752577	+	In_Frame_Del	DEL	CCAATC	CCAATC	-	rs150728227		TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr1:201752572_201752577delCCAATC	ENST00000367296.4	+	7	2816_2821	c.2396_2401delCCAATC	c.(2395-2403)gccaatctt>gtt	p.799_801ANL>V	NAV1_ENST00000367297.4_In_Frame_Del_p.799_801ANL>V|NAV1_ENST00000367300.3_In_Frame_Del_p.799_801ANL>V|NAV1_ENST00000367302.1_In_Frame_Del_p.812_814ANL>V|NAV1_ENST00000367295.1_In_Frame_Del_p.408_410ANL>V|NAV1_ENST00000469130.1_3'UTR|IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000295624.6_In_Frame_Del_p.799_801ANL>V	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	799					cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding			breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						CCCTCACTAGCCAATCTTGACAAGGT	0.456													9	508	---	---	---	---						-	201752577	CCAATC	-	201752572	7	5	342	1	0	1	0	1	0	0	0	0	10231	739	26	0	2479	0	NAV1	1	201752572	In_Frame_Del	DEL	CCAATC	TCGA-HW-A5KJ-01A-12D-A27K-08	49471273	201752572	47498049	4	31172											
OR14A16	284532	broad.mit.edu	37	1	247978839	247978840	+	Frame_Shift_Del	DEL	AT	AT	-			TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr1:247978839_247978840delAT	ENST00000357627.1	-	1	191_192	c.192_193delAT	c.(190-195)ctatctfs	p.S65fs		NM_001001966.1	NP_001001966.1	Q8NHC5	O14AG_HUMAN	olfactory receptor, family 14, subfamily A, member 16	65					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(32)|skin(2)|stomach(1)	45						TCCAAGAAAGATAGATTCTTCA	0.421													29	45	---	---	---	---						-	247978840	AT	-	247978839	7	5	342	1	0	1	0	1	0	0	0	0	10993	333	12	0	740	0	OR14A16	1	247978839	Frame_Shift_Del	DEL	AT	TCGA-HW-A5KJ-01A-12D-A27K-08	46226267	247978839	1271782	5	31173											
BRE	9577	broad.mit.edu	37	2	28550157	28550158	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr2:28550157_28550158delAG	ENST00000344773.2	+	12	1243_1244	c.1105_1106delAG	c.(1105-1107)agafs	p.R369fs	BRE_ENST00000379624.1_Intron|BRE_ENST00000361704.2_Intron|BRE_ENST00000379632.2_Intron|BRE_ENST00000342045.2_Intron	NM_004899.4	NP_004890.2	Q9NXR7	BRE_HUMAN	brain and reproductive organ-expressed (TNFRSF1A modulator)	0					apoptosis|chromatin modification|double-strand break repair|G2/M transition DNA damage checkpoint|positive regulation of anti-apoptosis|positive regulation of DNA repair|response to ionizing radiation|signal transduction	BRCA1-A complex|BRISC complex|cytoplasm|nuclear ubiquitin ligase complex	peroxisome targeting sequence binding|polyubiquitin binding|tumor necrosis factor receptor binding	p.R369K(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(2)	23	Acute lymphoblastic leukemia(172;0.155)					CCAAGGGAGCAGAGATGCCTGC	0.609													57	135	---	---	---	---						-	28550158	AG	-	28550157	7	5	342	1	0	1	0	1	0	0	0	0	1511	180	7	0	1194	0	BRE	2	28550157	Frame_Shift_Del	DEL	AG	TCGA-HW-A5KJ-01A-12D-A27K-08		28550157	214649216	6	31174											
RAB3GAP1	22930	broad.mit.edu	37	2	135920344	135920346	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr2:135920344_135920346delAAG	ENST00000264158.8	+	21	2456_2458	c.2413_2415delAAG	c.(2413-2415)aagdel	p.K806del	RAB3GAP1_ENST00000487003.1_3'UTR|RAB3GAP1_ENST00000539493.1_In_Frame_Del_p.K762del|RAB3GAP1_ENST00000442034.1_In_Frame_Del_p.K806del|ZRANB3_ENST00000412849.1_Intron	NM_012233.2	NP_036365.1	Q15042	RB3GP_HUMAN	RAB3 GTPase activating protein subunit 1 (catalytic)	806						centrosome|nucleus|soluble fraction	Rab GTPase activator activity|Rab GTPase binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32				BRCA - Breast invasive adenocarcinoma(221;0.117)		TTCTTCAGTTAAGAAGATCATAA	0.315													29	75	---	---	---	---						-	135920346	AAG	-	135920344	7	5	342	1	0	1	0	1	0	0	0	0	12987	363	13	0	2495	0	RAB3GAP1	2	135920344	In_Frame_Del	DEL	AAG	TCGA-HW-A5KJ-01A-12D-A27K-08	107370187	135920344	107279029	7	31175											
SCN2A	6326	broad.mit.edu	37	2	166245292	166245292	+	Missense_Mutation	SNP	C	C	A			TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr2:166245292C>A	ENST00000357398.3	+	27	5266	c.4976C>A	c.(4975-4977)gCg>gAg	p.A1659E	SCN2A_ENST00000375437.2_Missense_Mutation_p.A1659E|SCN2A_ENST00000375427.2_Missense_Mutation_p.A1659E|SCN2A_ENST00000283256.6_Missense_Mutation_p.A1659E			Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	1659					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	TCCCTTCCTGCGTTGTTTAAC	0.493													49	97					3.39706e-21	3.68014e-21	1	1	0	A	166245292	C	A	166245292	3	1	342	1	0	0	0	0	1	0	0	0	13970	768	27	5	5174	5	SCN2A	2	166245292	Missense_Mutation	SNP	C	TCGA-HW-A5KJ-01A-12D-A27K-08	30324948	166245292	76954081	8	31176											
SP3	6670	broad.mit.edu	37	2	174774916	174774917	+	Frame_Shift_Del	DEL	AT	AT	-			TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr2:174774916_174774917delAT	ENST00000310015.6	-	7	2628_2629	c.2098_2099delAT	c.(2098-2100)attfs	p.I700fs	SP3_ENST00000455789.2_Frame_Shift_Del_p.I647fs|SP3_ENST00000418194.2_Frame_Shift_Del_p.I632fs	NM_001172712.1|NM_003111.4	NP_001166183.1|NP_003102.1	Q02447	SP3_HUMAN	Sp3 transcription factor	700					negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	protein binding|zinc ion binding		EWSR1/SP3(3)	NS(2)|large_intestine(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.185)			GTGTGTTTTAATATGTTTGGCA	0.376													42	54	---	---	---	---						-	174774917	AT	-	174774916	7	5	342	1	0	1	0	1	0	0	0	0	15019	101	4	0	250	0	SP3	2	174774916	Frame_Shift_Del	DEL	AT	TCGA-HW-A5KJ-01A-12D-A27K-08	8529624	174774916	68424457	9	31177											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								36	46					0	0	1	0	0	T	209113112	C	T	209113112	3	4	342	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HW-A5KJ-01A-12D-A27K-08	34338196	209113112	34086261	10	31178											
ZBTB20	26137	broad.mit.edu	37	3	114058229	114058231	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr3:114058229_114058231delAGG	ENST00000462705.1	-	12	2449_2451	c.1628_1630delCCT	c.(1627-1632)tcctta>tta	p.S543del	ZBTB20_ENST00000474710.1_In_Frame_Del_p.S616del|ZBTB20_ENST00000471418.1_In_Frame_Del_p.S543del|ZBTB20_ENST00000393785.2_In_Frame_Del_p.S543del|ZBTB20_ENST00000481632.1_In_Frame_Del_p.S543del|ZBTB20_ENST00000357258.3_In_Frame_Del_p.S543del|ZBTB20_ENST00000464560.1_In_Frame_Del_p.S543del	NM_001164343.1	NP_001157815.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	616				S -> F (in Ref. 5; AAH29041).	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		TAATCCTTTAAGGAGAAGGAGCG	0.507													26	51	---	---	---	---						-	114058231	AGG	-	114058229	7	5	342	1	0	1	0	1	0	0	0	0	17588	69	3	0	380	0	ZBTB20	3	114058229	In_Frame_Del	DEL	AGG	TCGA-HW-A5KJ-01A-12D-A27K-08		114058229	83964201	11	31179											
CCDC96	257236	broad.mit.edu	37	4	7044489	7044489	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr4:7044489delT	ENST00000310085.4	-	1	239	c.177delA	c.(175-177)ggafs	p.G60fs	RP11-367J11.2_ENST00000500031.1_RNA	NM_153376.2	NP_699207.1	Q2M329	CCD96_HUMAN	coiled-coil domain containing 96	60	Glu-rich.									endometrium(3)|kidney(1)|large_intestine(3)|lung(2)|skin(1)|urinary_tract(1)	11						CGGCGGTGCCTCCCTGCGAAG	0.736													2	4	---	---	---	---						-	7044489	T	-	7044489	7	5	342	1	0	1	0	1	0	0	0	0	2894	1538	54	0	1494	0	CCDC96	4	7044489	Frame_Shift_Del	DEL	T	TCGA-HW-A5KJ-01A-12D-A27K-08		7044489	184109787	12	31180											
GALNTL6	442117	broad.mit.edu	37	4	173961139	173961141	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr4:173961139_173961141delAGA	ENST00000506823.1	+	13	2351_2353	c.1694_1696delAGA	c.(1693-1698)gagaag>gag	p.K567del	GALNTL6_ENST00000508122.1_In_Frame_Del_p.K550del	NM_001034845.2	NP_001030017.2	Q49A17	GLTL6_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6	567	Ricin B-type lectin.					Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.K567delK(1)		breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(2)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	45						AACCCCGCAGAGAAGAAGATTTT	0.424													25	61	---	---	---	---						-	173961141	AGA	-	173961139	7	5	342	1	0	1	0	1	0	0	0	0	6265	304	11	0	1740	0	GALNTL6	4	173961139	In_Frame_Del	DEL	AGA	TCGA-HW-A5KJ-01A-12D-A27K-08	166916650	173961139	17193137	13	31181											
SLC36A1	206358	broad.mit.edu	37	5	150867793	150867793	+	Missense_Mutation	SNP	A	A	G	rs140057648		TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr5:150867793A>G	ENST00000243389.3	+	11	1632	c.1409A>G	c.(1408-1410)aAt>aGt	p.N470S	SLC36A1_ENST00000520701.1_Missense_Mutation_p.N470S	NM_078483.2	NP_510968.2	Q7Z2H8	S36A1_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 1	470					cellular nitrogen compound metabolic process|ion transport	endoplasmic reticulum|integral to membrane|lysosomal membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity			endometrium(5)|kidney(9)|lung(8)|skin(2)|urinary_tract(1)	25		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)|all_neural(839;0.138)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Glycine(DB00145)|L-Alanine(DB00160)	ATCTTCATCAATTCCACCTGT	0.567													26	43					0	0	1	0	0	G	150867793	A	G	150867793	3	3	342	1	0	0	0	0	1	0	0	0	14648	101	4	3	1447	3	SLC36A1	5	150867793	Missense_Mutation	SNP	A	TCGA-HW-A5KJ-01A-12D-A27K-08		150867793	30047467	14	31182											
SLIT3	6586	broad.mit.edu	37	5	168093480	168093480	+	Silent	SNP	G	G	A			TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr5:168093480G>A	ENST00000519560.1	-	36	4970	c.4551C>T	c.(4549-4551)tgC>tgT	p.C1517C	SLIT3_ENST00000332966.8_Silent_p.C1524C|CTC-558O2.2_ENST00000520041.1_RNA	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	1517	CTCK.				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CGAGGCAGCCGCACTCTAAGT	0.627													11	22					0	0	1	0	0	A	168093480	G	A	168093480	2	1	342	1	0	0	0	0	0	0	0	1	14795	1079	38	1		1	SLIT3	5	168093480	Silent	SNP	G	TCGA-HW-A5KJ-01A-12D-A27K-08	17225687	168093480	12821780	15	31183											
HLA-DRB5	3127	broad.mit.edu	37	6	32486344	32486344	+	Missense_Mutation	SNP	T	T	C	rs116408738	by1000genomes	TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr6:32486344T>C	ENST00000374975.3	-	4	814	c.752A>G	c.(751-753)aAg>aGg	p.K251R		NM_002125.3	NP_002116.2	Q30154	DRB5_HUMAN	major histocompatibility complex, class II, DR beta 5	251					antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|immune response	endoplasmic reticulum membrane|Golgi apparatus|integral to membrane|late endosome membrane|lysosomal membrane|MHC class II protein complex				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|stomach(2)	10						TTTCTGATTCTTGAAGTAGAT	0.517													3	35					0	0	1	0	0	C	32486344	T	C	32486344	3	2	342	1	0	0	0	0	1	0	0	0	7250	1609	56	3	60	3	HLA-DRB5	6	32486344	Missense_Mutation	SNP	T	TCGA-HW-A5KJ-01A-12D-A27K-08		32486344	138628723	16	31184											
EPB41L2	2037	broad.mit.edu	37	6	131277495	131277497	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr6:131277495_131277497delTCC	ENST00000337057.3	-	2	310_312	c.129_131delGGA	c.(127-132)gaggaa>gaa	p.43_44EE>E	EPB41L2_ENST00000527659.1_In_Frame_Del_p.43_44EE>E|EPB41L2_ENST00000530481.1_In_Frame_Del_p.43_44EE>E|EPB41L2_ENST00000528282.1_In_Frame_Del_p.43_44EE>E|EPB41L2_ENST00000392427.3_In_Frame_Del_p.43_44EE>E|EPB41L2_ENST00000525193.1_In_Frame_Del_p.43_44EE>E|EPB41L2_ENST00000529208.1_In_Frame_Del_p.43_44EE>E|EPB41L2_ENST00000368128.2_In_Frame_Del_p.43_44EE>E|EPB41L2_ENST00000530148.1_Intron|EPB41L2_ENST00000527411.1_In_Frame_Del_p.43_44EE>E|EPB41L2_ENST00000445890.2_In_Frame_Del_p.43_44EE>E|EPB41L2_ENST00000525271.1_In_Frame_Del_p.43_44EE>E	NM_001431.3	NP_001422.1	O43491	E41L2_HUMAN	erythrocyte membrane protein band 4.1-like 2	43					cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		GGAACCTTTTTCCTCCTCTGGAT	0.483													36	85	---	---	---	---						-	131277497	TCC	-	131277495	7	5	342	1	0	1	0	1	0	0	0	0	5181	1783	62	0	2958	0	EPB41L2	6	131277495	In_Frame_Del	DEL	TCC	TCGA-HW-A5KJ-01A-12D-A27K-08	98791151	131277495	39837572	17	31185											
PCLO	27445	broad.mit.edu	37	7	82784381	82784381	+	Missense_Mutation	SNP	A	A	G			TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr7:82784381A>G	ENST00000333891.9	-	2	1913	c.1576T>C	c.(1576-1578)Tca>Cca	p.S526P	PCLO_ENST00000423517.2_Missense_Mutation_p.S526P	NM_033026.5	NP_149015.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein		Pro-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GGTTTTGTTGAGCCAGGCTGT	0.567													8	503					0	0	1	0	0	G	82784381	A	G	82784381	3	3	342	1	0	0	0	0	1	0	0	0	11630	304	11	3	13965	3	PCLO	7	82784381	Missense_Mutation	SNP	A	TCGA-HW-A5KJ-01A-12D-A27K-08		82784381	76354282	18	31186											
KLHDC10	23008	broad.mit.edu	37	7	129761996	129761996	+	Missense_Mutation	SNP	A	A	G			TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr7:129761996A>G	ENST00000335420.5	+	5	867	c.733A>G	c.(733-735)Aca>Gca	p.T245A		NM_014997.3	NP_055812.1	Q6PID8	KLD10_HUMAN	kelch domain containing 10	245										breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|liver(2)|lung(10)|prostate(1)	17						CAGAGAGTGGACACAACTGAA	0.423													62	49					0	0	1	0	0	G	129761996	A	G	129761996	3	3	342	1	0	0	0	0	1	0	0	0	8398	275	10	3	751	3	KLHDC10	7	129761996	Missense_Mutation	SNP	A	TCGA-HW-A5KJ-01A-12D-A27K-08	46977615	129761996	29376667	19	31187											
NEFL	4747	broad.mit.edu	37	8	24813443	24813443	+	RNA	SNP	C	C	T			TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr8:24813443C>T	ENST00000221169.5	-	0	1181							P07196	NFL_HUMAN	neurofilament, light polypeptide						anterograde axon cargo transport|axon transport of mitochondrion|neurofilament bundle assembly|retrograde axon cargo transport|synaptic transmission	cytosol|neurofilament	identical protein binding|protein C-terminus binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)	21		Ovarian(32;0.00965)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		GGCGCCTTTGCGCGCTTCCAT	0.647													3	36					0	0	1	0	0	T	24813443	C	T	24813443	1	4	342	0	1	0	0	0	0	0	0	0	10362	768	27	1		1	NEFL	8	24813443	RNA	SNP	C	TCGA-HW-A5KJ-01A-12D-A27K-08		24813443	121550579	20	31188											
FAM91A1	157769	broad.mit.edu	37	8	124789562	124789563	+	Splice_Site	DEL	TG	TG	-			TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr8:124789562_124789563delTG	ENST00000334705.7	+	4	613	c.367delTG	c.(367-369)tgg>gg	p.W123fs	FAM91A1_ENST00000521166.1_Splice_Site_p.W123fs	NM_144963.2	NP_659400	Q658Y4	F91A1_HUMAN	family with sequence similarity 91, member A1	123										breast(4)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28	Lung NSC(37;8.76e-13)|Ovarian(258;0.00744)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00192)			TGCTGCTGACTGTAAGTATTTA	0.302													17	53	---	---	---	---						-	124789563	TG	-	124789562	8	5	342	1	0	1	0	1	0	0	1	0	5684	1594	55	0	381	0	FAM91A1	8	124789562	Splice_Site	DEL	TG	TCGA-HW-A5KJ-01A-12D-A27K-08	99976119	124789562	21574460	21	31189											
RUSC2	9853	broad.mit.edu	37	9	35560631	35560633	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr9:35560631_35560633delGAG	ENST00000455600.1	+	10	4563_4565	c.3994_3996delGAG	c.(3994-3996)gagdel	p.E1333del		NM_001135999.1	NP_001129471	Q8N2Y8	RUSC2_HUMAN	RUN and SH3 domain containing 2	1333						cytosol				NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			CCCTGCCTCTGAGGAGGCCCTGG	0.7													10	15	---	---	---	---						-	35560633	GAG	-	35560631	7	5	342	1	0	1	0	1	0	0	0	0	13803	1291	45	0	4028	0	RUSC2	9	35560631	In_Frame_Del	DEL	GAG	TCGA-HW-A5KJ-01A-12D-A27K-08		35560631	105652800	22	31190											
NOTCH1	4851	broad.mit.edu	37	9	139397632	139397635	+	Splice_Site	DEL	ACTC	ACTC	-			TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr9:139397632_139397635delACTC	ENST00000277541.6	-	27	5241_5243	c.5166_5168delGAGT	c.(5164-5169)cagagt>cat	p.QS1722fs		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1722					aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	p.?(2)		breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GGCCACACTTACTCTGCACGGCCT	0.662			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			19	73	---	---	---	---						-	139397635	ACTC	-	139397632	8	5	342	1	0	1	0	1	0	0	1	0	10594	405	14	0	2530	0	NOTCH1	9	139397632	Splice_Site	DEL	ACTC	TCGA-HW-A5KJ-01A-12D-A27K-08	103837001	139397632	1815799	23	31191											
NOTCH1	4851	broad.mit.edu	37	9	139413073	139413075	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr9:139413073_139413075delAGG	ENST00000277541.6	-	6	1142_1144	c.1067_1069delCCT	c.(1066-1071)tccttc>ttc	p.S356del		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	356	EGF-like 9; calcium-binding (Potential).				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	p.S356del(1)		breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		TCGCAGTAGAAGGAGGCCACACG	0.65			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			24	25	---	---	---	---						-	139413075	AGG	-	139413073	7	5	342	1	0	1	0	1	0	0	0	0	10594	72	3	0	6714	0	NOTCH1	9	139413073	In_Frame_Del	DEL	AGG	TCGA-HW-A5KJ-01A-12D-A27K-08	15441	139413073	1800358	24	31192											
SLIT1	6585	broad.mit.edu	37	10	98797514	98797514	+	Silent	SNP	G	G	A	rs141130521	byFrequency	TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr10:98797514G>A	ENST00000266058.4	-	22	2552	c.2307C>T	c.(2305-2307)gaC>gaT	p.D769D	ARHGAP19-SLIT1_ENST00000453547.2_3'UTR|SLIT1_ENST00000371070.4_Silent_p.D769D	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	769					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)		ACTGGTTCCCGTCCAAATAGC	0.597											OREG0020406	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	20	26					0	0	1	0	0	A	98797514	G	A	98797514	2	1	342	1	0	0	0	0	0	0	0	1	14793	1136	40	1		1	SLIT1	10	98797514	Silent	SNP	G	TCGA-HW-A5KJ-01A-12D-A27K-08		98797514	36737233	25	31193											
MS4A12	54860	broad.mit.edu	37	11	60268575	60268575	+	Missense_Mutation	SNP	A	A	G			TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr11:60268575A>G	ENST00000016913.4	+	3	391	c.334A>G	c.(334-336)Ata>Gta	p.I112V	MS4A12_ENST00000537076.1_Intron	NM_017716.2	NP_060186.2	Q9NXJ0	M4A12_HUMAN	membrane-spanning 4-domains, subfamily A, member 12	112						integral to membrane	receptor activity			breast(1)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)	17						TTTGTGTTTAATATCCTTCTC	0.373													9	165					0	0	1	0	0	G	60268575	A	G	60268575	3	3	342	1	0	0	0	0	1	0	0	0	9905	101	4	3	340	3	MS4A12	11	60268575	Missense_Mutation	SNP	A	TCGA-HW-A5KJ-01A-12D-A27K-08		60268575	74737941	26	31194											
CCDC88B	283234	broad.mit.edu	37	11	64111866	64111866	+	Missense_Mutation	SNP	A	A	C	rs142814776		TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr11:64111866A>C	ENST00000356786.5	+	14	1897	c.1853A>C	c.(1852-1854)cAg>cCg	p.Q618P	CCDC88B_ENST00000301897.4_5'UTR|CCDC88B_ENST00000463837.1_3'UTR	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN	coiled-coil domain containing 88B	618					microtubule cytoskeleton organization	cytoplasm	microtubule binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CAGGCCCCGCAGTTGCTGGGA	0.647													16	42					0	0	1	0	0	C	64111866	A	C	64111866	3	2	342	1	0	0	0	0	1	0	0	0	2884	188	7	5	1907	5	CCDC88B	11	64111866	Missense_Mutation	SNP	A	TCGA-HW-A5KJ-01A-12D-A27K-08	3843291	64111866	70894650	27	31195											
RCE1	9986	broad.mit.edu	37	11	66610961	66610961	+	Missense_Mutation	SNP	T	T	C			TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr11:66610961T>C	ENST00000309657.3	+	1	79	c.35T>C	c.(34-36)cTg>cCg	p.L12P	C11orf80_ENST00000360962.4_3'UTR|RCE1_ENST00000524506.1_Missense_Mutation_p.L12P	NM_001032279.1|NM_005133.2	NP_001027450.1|NP_005124.1	Q9Y256	FACE2_HUMAN	Ras converting CAAX endopeptidase 1	12					proteolysis	endoplasmic reticulum membrane|integral to plasma membrane	metalloendopeptidase activity			breast(2)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	10						CTGCGACTGCTGTCGGTGTCG	0.756													3	1					0	0	1	0	0	C	66610961	T	C	66610961	3	2	342	1	0	0	0	0	1	0	0	0	13228	1580	55	3	37	3	RCE1	11	66610961	Missense_Mutation	SNP	T	TCGA-HW-A5KJ-01A-12D-A27K-08	2499095	66610961	68395555	28	31196											
FAM181B	220382	broad.mit.edu	37	11	82444076	82444078	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr11:82444076_82444078delGAA	ENST00000329203.3	-	1	828_830	c.694_696delTTC	c.(694-696)ttcdel	p.F232del		NM_175885.3	NP_787081.2	A6NEQ2	F181B_HUMAN	family with sequence similarity 181, member B	232	Gly-rich.									large_intestine(1)|lung(2)|prostate(1)	4						ACGGCTCCGTGAAGAAGGACGGA	0.754													8	10	---	---	---	---						-	82444078	GAA	-	82444076	7	5	342	1	0	1	0	1	0	0	0	0	5540	1281	45	0	588	0	FAM181B	11	82444076	In_Frame_Del	DEL	GAA	TCGA-HW-A5KJ-01A-12D-A27K-08	15833115	82444076	52562440	29	31197											
C11orf82	220042	broad.mit.edu	37	11	82643883	82643883	+	Silent	SNP	A	A	T			TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr11:82643883A>T	ENST00000533655.1	+	6	1715	c.1503A>T	c.(1501-1503)ggA>ggT	p.G501G	C11orf82_ENST00000329143.3_Silent_p.G200G|C11orf82_ENST00000525361.1_Intron|C11orf82_ENST00000430323.2_Silent_p.G501G|C11orf82_ENST00000528759.1_3'UTR	NM_145018.3	NP_659455.3	Q8IXT1	NOXIN_HUMAN	chromosome 11 open reading frame 82	501					apoptosis|cell cycle arrest	cytoplasm|nucleus				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	33						ACTGTAAAGGAAATCTAAGTC	0.368													17	23					0	0	1	0	0	T	82643883	A	T	82643883	2	4	342	1	0	0	0	0	0	0	0	1	1670	233	9	5		5	C11orf82	11	82643883	Silent	SNP	A	TCGA-HW-A5KJ-01A-12D-A27K-08	199807	82643883	52362633	30	31198											
CLEC9A	283420	broad.mit.edu	37	12	10205309	10205321	+	Frame_Shift_Del	DEL	CCTCTCTTCAGTG	CCTCTCTTCAGTG	-			TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr12:10205309_10205321delCCTCTCTTCAGTG	ENST00000355819.1	+	4	636_648	c.23_35delCCTCTCTTCAGTG	c.(22-36)acctctcttcagtggfs	p.TSLQW8fs	CLEC9A_ENST00000544751.1_3'UTR	NM_207345.2	NP_997228.1	Q6UXN8	CLC9A_HUMAN	C-type lectin domain family 9, member A	8					positive regulation of cytokine secretion|receptor-mediated endocytosis	cell surface|integral to membrane	receptor activity|sugar binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	22						GAAATATACACCTCTCTTCAGTGGGATAGCCCA	0.441													11	54	---	---	---	---						-	10205321	CCTCTCTTCAGTG	-	10205309	7	5	342	1	0	1	0	1	0	0	0	0	3545	507	18	0	25	0	CLEC9A	12	10205309	Frame_Shift_Del	DEL	CCTCTCTTCAGTG	TCGA-HW-A5KJ-01A-12D-A27K-08		10205309	123646586	31	31199											
IRAK4	51135	broad.mit.edu	37	12	44180218	44180218	+	Missense_Mutation	SNP	A	A	C			TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr12:44180218A>C	ENST00000431837.1	+	10	1141	c.833A>C	c.(832-834)gAa>gCa	p.E278A	IRAK4_ENST00000440781.2_Missense_Mutation_p.E278A|IRAK4_ENST00000551736.1_Missense_Mutation_p.E402A|IRAK4_ENST00000448290.2_Missense_Mutation_p.E402A	NM_001145256.1|NM_001145257.1	NP_001138728.1|NP_001138729.1	Q9NWZ3	IRAK4_HUMAN	interleukin-1 receptor-associated kinase 4	402	Protein kinase.				innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity					all_cancers(12;0.00149)	Lung NSC(34;0.0804)|all_lung(34;0.181)		GBM - Glioblastoma multiforme(48;0.04)		ATTAAAGAAGAAATTGAAGAT	0.249													3	47					0	0	1	0	0	C	44180218	A	C	44180218	3	2	342	1	0	0	0	0	1	0	0	0	7869	246	9	5	1243	5	IRAK4	12	44180218	Missense_Mutation	SNP	A	TCGA-HW-A5KJ-01A-12D-A27K-08	33974909	44180218	89671677	32	31200											
RASSF9	9182	broad.mit.edu	37	12	86199470	86199470	+	Silent	SNP	C	C	T			TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr12:86199470C>T	ENST00000361228.3	-	2	686	c.318G>A	c.(316-318)gaG>gaA	p.E106E		NM_005447.3	NP_005438.2	O75901	RASF9_HUMAN	Ras association (RalGDS/AF-6) domain family (N-terminal) member 9	106	Ras-associating.				endosome transport|protein targeting|signal transduction	cytosol|endosome|trans-Golgi network transport vesicle membrane	protein binding|transporter activity			endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TATTGGGCTGCTCATCTCCCC	0.448													13	123					0	0	1	0	0	T	86199470	C	T	86199470	2	4	342	1	0	0	0	0	0	0	0	1	13145	796	28	2		2	RASSF9	12	86199470	Silent	SNP	C	TCGA-HW-A5KJ-01A-12D-A27K-08	42019252	86199470	47652425	33	31201											
UHRF1BP1L	23074	broad.mit.edu	37	12	100478361	100478361	+	Missense_Mutation	SNP	T	T	C			TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr12:100478361T>C	ENST00000279907.7	-	10	1393	c.1181A>G	c.(1180-1182)cAt>cGt	p.H394R	UHRF1BP1L_ENST00000545232.2_Missense_Mutation_p.H44R|UHRF1BP1L_ENST00000356828.3_Missense_Mutation_p.H394R	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN	UHRF1 binding protein 1-like	394										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						CTCAAATTCATGCAATAACTC	0.393													29	56					0	0	1	0	0	C	100478361	T	C	100478361	3	2	342	1	0	0	0	0	1	0	0	0	17029	1464	51	3	3285	3	UHRF1BP1L	12	100478361	Missense_Mutation	SNP	T	TCGA-HW-A5KJ-01A-12D-A27K-08	14278891	100478361	33373534	34	31202											
ALDH1L2	160428	broad.mit.edu	37	12	105464505	105464507	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr12:105464505_105464507delCTT	ENST00000258494.9	-	3	409_411	c.269_271delAAG	c.(268-273)gaagtg>gtg	p.E90del	ALDH1L2_ENST00000424857.2_In_Frame_Del_p.E90del	NM_001034173.3	NP_001029345.2	Q3SY69	AL1L2_HUMAN	aldehyde dehydrogenase 1 family, member L2	90	GART.				10-formyltetrahydrofolate catabolic process|biosynthetic process	mitochondrion	acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity|phosphopantetheine binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|prostate(2)|skin(3)|stomach(2)	35						GCTTCTGCCACTTCTTTGATGGT	0.463													20	86	---	---	---	---						-	105464507	CTT	-	105464505	7	5	342	1	0	1	0	1	0	0	0	0	492	565	20	0	2584	0	ALDH1L2	12	105464505	In_Frame_Del	DEL	CTT	TCGA-HW-A5KJ-01A-12D-A27K-08	4986144	105464505	28387390	35	31203											
BRMS1L	84312	broad.mit.edu	37	14	36295747	36295749	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr14:36295747_36295749delAAG	ENST00000216807.7	+	1	224_226	c.25_27delAAG	c.(25-27)aagdel	p.K10del	RP11-317N8.5_ENST00000555918.1_RNA|BRMS1L_ENST00000543183.1_5'UTR	NM_032352.3	NP_115728.2	Q5PSV4	BRM1L_HUMAN	breast cancer metastasis-suppressor 1-like	10					regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|cervix(1)|endometrium(2)|kidney(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9	Breast(36;0.137)|Hepatocellular(127;0.158)		Lung(8;1.7e-07)|LUAD - Lung adenocarcinoma(9;3e-07)|Epithelial(34;0.00467)|all cancers(34;0.0157)|BRCA - Breast invasive adenocarcinoma(188;0.158)	GBM - Glioblastoma multiforme(112;0.0333)		CCGAGGGGATAAGAAGGAGACCA	0.631													11	9	---	---	---	---						-	36295749	AAG	-	36295747	7	5	342	1	0	1	0	1	0	0	0	0	1519	363	13	0	27	0	BRMS1L	14	36295747	In_Frame_Del	DEL	AAG	TCGA-HW-A5KJ-01A-12D-A27K-08		36295747	71053793	36	31204											
BAHD1	22893	broad.mit.edu	37	15	40751367	40751367	+	Missense_Mutation	SNP	G	G	A	rs150307966		TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr15:40751367G>A	ENST00000561234.1	+	2	963	c.704G>A	c.(703-705)cGc>cAc	p.R235H	BAHD1_ENST00000560846.1_Missense_Mutation_p.R235H|BAHD1_ENST00000416165.1_Missense_Mutation_p.R235H			Q8TBE0	BAHD1_HUMAN	bromo adjacent homology domain containing 1	235					heterochromatin formation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin silencing complex|chromosome	chromatin binding|DNA binding|protein binding			NS(1)|endometrium(6)|kidney(3)|large_intestine(3)|lung(10)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	28		all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08)		GTAGATGGGCGCTCCACTGAG	0.627													27	38					0	0	1	0	0	A	40751367	G	A	40751367	3	1	342	1	0	0	0	0	1	0	0	0	1295	1087	38	1	706	1	BAHD1	15	40751367	Missense_Mutation	SNP	G	TCGA-HW-A5KJ-01A-12D-A27K-08		40751367	61780025	37	31205											
CA5A	763	broad.mit.edu	37	16	87938397	87938397	+	Missense_Mutation	SNP	C	C	T			TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr16:87938397C>T	ENST00000309893.2	-	3	519	c.454G>A	c.(454-456)Gca>Aca	p.A152T		NM_001739.1	NP_001730.1	P35218	CAH5A_HUMAN	carbonic anhydrase VA, mitochondrial	152					one-carbon metabolic process	mitochondrial matrix	carbonate dehydratase activity|zinc ion binding			large_intestine(4)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	16				BRCA - Breast invasive adenocarcinoma(80;0.0513)		CAAACCTCTGCGGGGTACGCG	0.577													43	101					0	0	1	0	0	T	87938397	C	T	87938397	3	4	342	1	0	0	0	0	1	0	0	0	2537	768	27	1	483	1	CA5A	16	87938397	Missense_Mutation	SNP	C	TCGA-HW-A5KJ-01A-12D-A27K-08		87938397	2416356	38	31206											
KSR1	8844	broad.mit.edu	37	17	25932772	25932772	+	Missense_Mutation	SNP	C	C	T			TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr17:25932772C>T	ENST00000398988.3	+	16	2027	c.1582C>T	c.(1582-1584)Cgg>Tgg	p.R528W	KSR1_ENST00000268763.6_Missense_Mutation_p.R528W|KSR1_ENST00000509603.2_Missense_Mutation_p.R643W|KSR1_ENST00000319524.6_Missense_Mutation_p.R665W	NM_014238.1	NP_055053.1	Q8IVT5	KSR1_HUMAN	kinase suppressor of ras 1	663					Ras protein signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	28	Lung NSC(42;0.00836)		BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		CCGGCAGACGCGGCATGAGAA	0.597													19	26					0	0	1	0	0	T	25932772	C	T	25932772	3	4	342	1	0	0	0	0	1	0	0	0	8620	759	27	1	1628	1	KSR1	17	25932772	Missense_Mutation	SNP	C	TCGA-HW-A5KJ-01A-12D-A27K-08		25932772	55262438	39	31207											
PIGW	284098	broad.mit.edu	37	17	34893506	34893508	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr17:34893506_34893508delAGG	ENST00000592983.1	+	2	1136_1138	c.556_558delAGG	c.(556-558)aggdel	p.R188del	MYO19_ENST00000590081.1_Intron|PIGW_ENST00000328396.2_In_Frame_Del_p.R188del			Q7Z7B1	PIGW_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class W	188					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	O-acyltransferase activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		TCTAGAGGTCAGGAGGAGAAAAT	0.424													50	141	---	---	---	---						-	34893508	AGG	-	34893506	7	5	342	1	0	1	0	1	0	0	0	0	11950	179	7	0	558	0	PIGW	17	34893506	In_Frame_Del	DEL	AGG	TCGA-HW-A5KJ-01A-12D-A27K-08	8960734	34893506	46301704	40	31208											
ADAM11	4185	broad.mit.edu	37	17	42855353	42855353	+	Missense_Mutation	SNP	C	C	A			TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr17:42855353C>A	ENST00000200557.6	+	24	2273	c.2104C>A	c.(2104-2106)Cca>Aca	p.P702T	ADAM11_ENST00000535346.1_Missense_Mutation_p.P502T	NM_002390.4	NP_002381.2	O75078	ADA11_HUMAN	ADAM metallopeptidase domain 11	702	EGF-like.				integrin-mediated signaling pathway|proteolysis	integral to membrane|plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Prostate(33;0.0959)				CATCTGTCAGCCAGACTGGAC	0.612													5	287					0.0215528	0.0215528	1	1	0	A	42855353	C	A	42855353	3	1	342	1	0	0	0	0	1	0	0	0	234	739	26	5	2198	5	ADAM11	17	42855353	Missense_Mutation	SNP	C	TCGA-HW-A5KJ-01A-12D-A27K-08	7961847	42855353	38339857	41	31209											
UNC13A	23025	broad.mit.edu	37	19	17752258	17752258	+	Missense_Mutation	SNP	C	C	A			TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr19:17752258C>A	ENST00000428389.2	-	22	2843	c.2844G>T	c.(2842-2844)gaG>gaT	p.E948D	UNC13A_ENST00000550896.1_Missense_Mutation_p.E858D|UNC13A_ENST00000551649.1_Missense_Mutation_p.E860D|UNC13A_ENST00000519716.2_Missense_Mutation_p.E860D|UNC13A_ENST00000252773.7_Missense_Mutation_p.E860D|UNC13A_ENST00000552293.1_Missense_Mutation_p.E860D			Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	860					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						CGTCCACAATCTCCTGGGCTG	0.567													30	49					5.77227e-19	6.12568e-19	1	1	0	A	17752258	C	A	17752258	3	1	342	1	0	0	0	0	1	0	0	0	17044	912	32	4	2623	4	UNC13A	19	17752258	Missense_Mutation	SNP	C	TCGA-HW-A5KJ-01A-12D-A27K-08		17752258	41376725	42	31210											
ZNF614	80110	broad.mit.edu	37	19	52519785	52519785	+	Missense_Mutation	SNP	G	G	A			TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr19:52519785G>A	ENST00000270649.6	-	5	1610	c.1066C>T	c.(1066-1068)Cgc>Tgc	p.R356C	ZNF614_ENST00000356322.6_Intron	NM_025040.3	NP_079316.2	Q8N883	ZN614_HUMAN	zinc finger protein 614	356					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	24		all_neural(266;0.0505)		GBM - Glioblastoma multiforme(134;0.00513)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		ACAAGATAGCGCTTCATGGTG	0.428													11	68					0	0	1	0	0	A	52519785	G	A	52519785	3	1	342	1	0	0	0	0	1	0	0	0	18096	1087	38	1	695	1	ZNF614	19	52519785	Missense_Mutation	SNP	G	TCGA-HW-A5KJ-01A-12D-A27K-08	34767527	52519785	6609198	43	31211											
MAVS	57506	broad.mit.edu	37	20	3841977	3841977	+	Splice_Site	SNP	A	A	G			TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr20:3841977A>G	ENST00000428216.2	+	4	420		c.e4-1		MAVS_ENST00000358134.6_Intron|MAVS_ENST00000416600.2_Splice_Site	NM_020746.4	NP_065797.2	Q7Z434	MAVS_HUMAN	mitochondrial antiviral signaling protein						activation of innate immune response|cellular response to exogenous dsRNA|defense response to bacterium|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of chemokine (C-C motif) ligand 5 production|positive regulation of defense response to virus by host|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interleukin-8 production|positive regulation of IP-10 production|positive regulation of protein import into nucleus, translocation|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of type I interferon-mediated signaling pathway|response to virus	integral to membrane|mitochondrial outer membrane	CARD domain binding|protein kinase binding|signal transducer activity			autonomic_ganglia(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						TTTGTCCTCTAGGGACCTCGG	0.602													48	86					0	0	1	0	0	G	3841977	A	G	3841977	5	3	342	1	0	0	0	0	0	0	1	0	9388	434	15	3	301	3	MAVS	20	3841977	Splice_Site	SNP	A	TCGA-HW-A5KJ-01A-12D-A27K-08		3841977	59183543	44	31212											
CTCFL	140690	broad.mit.edu	37	20	56078504	56078504	+	Missense_Mutation	SNP	C	C	T	rs142170954	byFrequency	TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr20:56078504C>T	ENST00000608263.1	-	9	2489	c.1828G>A	c.(1828-1830)Gcg>Acg	p.A610T	CTCFL_ENST00000502686.2_Missense_Mutation_p.A348T|CTCFL_ENST00000608440.1_Missense_Mutation_p.A610T|CTCFL_ENST00000371196.2_Missense_Mutation_p.A610T|CTCFL_ENST00000429804.3_Missense_Mutation_p.A560T|CTCFL_ENST00000243914.3_Missense_Mutation_p.A610T|CTCFL_ENST00000423479.3_Missense_Mutation_p.A610T|CTCFL_ENST00000433949.3_Missense_Mutation_p.A405T|CTCFL_ENST00000609232.1_Missense_Mutation_p.A610T	NM_001269041.1	NP_001255970.1	Q8NI51	CTCFL_HUMAN	CCCTC-binding factor (zinc finger protein)-like						cell cycle|DNA methylation involved in gamete generation|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent	cytoplasm|nucleus	histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			TCTCCGTTCGCGGCTTCCTTC	0.502													4	151					0	0	1	0	0	T	56078504	C	T	56078504	3	4	342	1	0	0	0	0	1	0	0	0	4025	768	27	1	171	1	CTCFL	20	56078504	Missense_Mutation	SNP	C	TCGA-HW-A5KJ-01A-12D-A27K-08	52236527	56078504	6947016	45	31213											
ADAMTS1	9510	broad.mit.edu	37	21	28210518	28210518	+	Missense_Mutation	SNP	T	T	A			TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr21:28210518T>A	ENST00000284984.3	-	9	2738	c.2284A>T	c.(2284-2286)Agg>Tgg	p.R762W		NM_006988.3	NP_008919.3	Q9UHI8	ATS1_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 1		Spacer.				integrin-mediated signaling pathway|negative regulation of cell proliferation|proteolysis		heparin binding|zinc ion binding			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(20)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	42		Breast(209;0.000962)		Lung(58;0.215)		CCATTGTTCCTGGATCCCCTC	0.448													22	27					0	0	1	0	0	A	28210518	T	A	28210518	3	1	342	1	0	0	0	0	1	0	0	0	254	1579	55	5	623	5	ADAMTS1	21	28210518	Missense_Mutation	SNP	T	TCGA-HW-A5KJ-01A-12D-A27K-08		28210518	19919377	46	31214											
ERG	2078	broad.mit.edu	37	21	39774503	39774503	+	Missense_Mutation	SNP	G	G	A			TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr21:39774503G>A	ENST00000442448.1	-	7	941	c.670C>T	c.(670-672)Cgg>Tgg	p.R224W	ERG_ENST00000398911.1_Missense_Mutation_p.R224W|ERG_ENST00000417133.2_Missense_Mutation_p.R224W|ERG_ENST00000398910.1_Missense_Mutation_p.R224W|ERG_ENST00000398897.1_Missense_Mutation_p.R125W|ERG_ENST00000398907.1_Missense_Mutation_p.R217W|ERG_ENST00000288319.7_Missense_Mutation_p.R217W|ERG_ENST00000429727.2_Intron|ERG_ENST00000398905.1_Missense_Mutation_p.R217W|ERG_ENST00000398919.2_Missense_Mutation_p.R224W|ERG_ENST00000453032.2_Missense_Mutation_p.R125W	NM_004449.4	NP_004440.1	P11308	ERG_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog	224					cell proliferation|multicellular organismal development|protein phosphorylation	cytoplasm|nucleus|ribonucleoprotein complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity		EWSR1/ERG(178)|NDRG1/ERG(5)|TMPRSS2/ERG(3582)|FUS/ERG(167)|SLC45A3/ERG(50)	lung(2)|ovary(1)|skin(1)	4		Prostate(19;3.6e-06)				TGCATTAACCGTGGAGAGTTT	0.438			T	"EWSR1, TMPRSS2, ELF4, FUS, HERPUD1, NDRG1"	"Ewing sarcoma, prostate, AML"								12	36					0	0	1	0	0	A	39774503	G	A	39774503	3	1	342	1	0	0	0	0	1	0	0	0	5250	1144	40	1	814	1	ERG	21	39774503	Missense_Mutation	SNP	G	TCGA-HW-A5KJ-01A-12D-A27K-08	11563985	39774503	8355392	47	31215											
ZNF280A	129025	broad.mit.edu	37	22	22869694	22869694	+	Silent	SNP	C	C	T	rs150360634		TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr22:22869694C>T	ENST00000302097.3	-	2	513	c.261G>A	c.(259-261)tcG>tcA	p.S87S		NM_080740.3	NP_542778.1	P59817	Z280A_HUMAN	zinc finger protein 280A	87					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	18	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		TTGCAGGCTGCGACACGTGAG	0.468													59	97					0	0	1	0	0	T	22869694	C	T	22869694	2	4	342	1	0	0	0	0	0	0	0	1	17872	755	27	1		1	ZNF280A	22	22869694	Silent	SNP	C	TCGA-HW-A5KJ-01A-12D-A27K-08		22869694	28434872	48	31216											
SOX10	6663	broad.mit.edu	37	22	38379483	38379483	+	Silent	SNP	G	G	A			TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr22:38379483G>A	ENST00000396884.2	-	2	591	c.309C>T	c.(307-309)caC>caT	p.H103H	POLR2F_ENST00000405557.1_Intron|SOX10_ENST00000360880.2_Silent_p.H103H|POLR2F_ENST00000407936.1_Intron|SOX10_ENST00000470555.1_Intron	NM_006941.3	NP_008872.1	P56693	SOX10_HUMAN	SRY (sex determining region Y)-box 10	103						cytoplasm|nucleus	DNA binding|identical protein binding|transcription coactivator activity			NS(6)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|skin(2)	20	Melanoma(58;0.045)					GCCGCTTGACGTGCGGCTTGC	0.662													3	29					0	0	1	0	0	A	38379483	G	A	38379483	2	1	342	1	0	0	0	0	0	0	0	1	14995	1136	40	1		1	SOX10	22	38379483	Silent	SNP	G	TCGA-HW-A5KJ-01A-12D-A27K-08	15509789	38379483	12925083	49	31217											
PRR5	55615	broad.mit.edu	37	22	45127647	45127649	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr22:45127647_45127649delCTT	ENST00000403581.1	+	7	1038_1040	c.429_431delCTT	c.(427-432)gacttc>gac	p.F146del	PRR5_ENST00000006251.7_In_Frame_Del_p.F114del|PRR5-ARHGAP8_ENST00000361473.5_Intron|PRR5_ENST00000336985.6_In_Frame_Del_p.F123del|ARHGAP8_ENST00000389773.5_Intron|PRR5-ARHGAP8_ENST00000352766.7_In_Frame_Del_p.F123del|PRR5_ENST00000477331.1_3'UTR|ARHGAP8_ENST00000517296.3_In_Frame_Del_p.F123del	NM_001198721.1	NP_001185650.1			proline rich 5 (renal)											central_nervous_system(1)|endometrium(2)|lung(6)|prostate(1)|skin(1)	11		all_neural(38;0.00409)|Ovarian(80;0.024)|Glioma(61;0.0647)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)		AGACCTGGGACTTCTTCTTCAGT	0.66													12	102	---	---	---	---						-	45127649	CTT	-	45127647	7	5	342	1	0	1	0	1	0	0	0	0	12650	564	20	0	378	0	PRR5	22	45127647	In_Frame_Del	DEL	CTT	TCGA-HW-A5KJ-01A-12D-A27K-08	6748164	45127647	6176919	50	31218											
BCOR	54880	broad.mit.edu	37	X	39934072	39934075	+	Frame_Shift_Del	DEL	TGTT	TGTT	-			TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chrX:39934072_39934075delTGTT	ENST00000342274.4	-	4	886_889	c.524_527delAACA	c.(523-528)aaacagfs	p.KQ175fs	BCOR_ENST00000378444.4_Frame_Shift_Del_p.KQ175fs|BCOR_ENST00000378455.4_Frame_Shift_Del_p.KQ175fs|BCOR_ENST00000397354.3_Frame_Shift_Del_p.KQ175fs	NM_001123383.1	NP_001116855.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	175					heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						GAGAGGGCTCTGTTTGTCGCTGGC	0.539			"F, N, S, T"	RARA	"retinoblastoma, AML, APL(translocation)"		oculo-facio-cardio-dental genetic						7	80	---	---	---	---						-	39934075	TGTT	-	39934072	7	5	342	1	0	1	0	1	0	0	0	0	1384	1580	55	0	4788	0	BCOR	23	39934072	Frame_Shift_Del	DEL	TGTT	TCGA-HW-A5KJ-01A-12D-A27K-08		39934072	115336488	51	31219											
EXTL1	2134	broad.mit.edu	37	1	26360306	26360306	+	Silent	SNP	C	C	T	rs137944707	byFrequency	TCGA-HW-A5KK-01A-11D-A27K-08	TCGA-HW-A5KK-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b22eb7-4e33-40b3-876c-70db5f2803d1	255ac70b-b68b-4384-be0e-057217146e1e	g.chr1:26360306C>T	ENST00000374280.3	+	9	2505	c.1638C>T	c.(1636-1638)aaC>aaT	p.N546N		NM_004455.2	NP_004446.2	Q92935	EXTL1_HUMAN	exostosin-like glycosyltransferase 1	546					skeletal system development	integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|stomach(1)|urinary_tract(1)	23		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;6.44e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00594)|READ - Rectum adenocarcinoma(331;0.0649)		AGAGGACCAACGAATTCTCCA	0.597													17	78					0	0	1	0	0	T	26360306	C	T	26360306	2	4	343	1	0	0	0	0	0	0	0	1	5353	535	19	1		1	EXTL1	1	26360306	Silent	SNP	C	TCGA-HW-A5KK-01A-11D-A27K-08		26360306	222890315	1	31220											
KIAA0754	643314	broad.mit.edu	37	1	39876726	39876726	+	Silent	SNP	A	A	G			TCGA-HW-A5KK-01A-11D-A27K-08	TCGA-HW-A5KK-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b22eb7-4e33-40b3-876c-70db5f2803d1	255ac70b-b68b-4384-be0e-057217146e1e	g.chr1:39876726A>G	ENST00000530275.1	+	1	576	c.381A>G	c.(379-381)acA>acG	p.T127T	MACF1_ENST00000564288.1_Intron|MACF1_ENST00000372915.3_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000289893.4_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000567887.1_Intron	NM_015038.1	NP_055853.1	O94854	K0754_HUMAN	KIAA0754	127										central_nervous_system(1)|large_intestine(6)|skin(1)	8	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CGAGGGCCACAAAAAGTTTAG	0.512											OREG0013393	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	29					0	0	1	0	0	G	39876726	A	G	39876726	2	3	343	1	0	0	0	0	0	0	0	1	8234	117	5	3		3	KIAA0754	1	39876726	Silent	SNP	A	TCGA-HW-A5KK-01A-11D-A27K-08	13516420	39876726	209373895	2	31221											
CACNA1E	777	broad.mit.edu	37	1	181724388	181724388	+	Missense_Mutation	SNP	G	G	A			TCGA-HW-A5KK-01A-11D-A27K-08	TCGA-HW-A5KK-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b22eb7-4e33-40b3-876c-70db5f2803d1	255ac70b-b68b-4384-be0e-057217146e1e	g.chr1:181724388G>A	ENST00000526775.1	+	27	3952	c.3787G>A	c.(3787-3789)Gta>Ata	p.V1263I	CACNA1E_ENST00000358338.5_Missense_Mutation_p.V1214I|CACNA1E_ENST00000367573.2_Missense_Mutation_p.V1282I|CACNA1E_ENST00000367570.1_Missense_Mutation_p.V1282I|CACNA1E_ENST00000357570.5_Missense_Mutation_p.V1233I|CACNA1E_ENST00000367567.4_Missense_Mutation_p.V889I|CACNA1E_ENST00000360108.3_Missense_Mutation_p.V1263I	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1282					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						CTTCGACTGCGTAGTGACCTC	0.502													13	62					0	0	1	0	0	A	181724388	G	A	181724388	3	1	343	1	0	0	0	0	1	0	0	0	2560	1145	40	1	3954	1	CACNA1E	1	181724388	Missense_Mutation	SNP	G	TCGA-HW-A5KK-01A-11D-A27K-08	141847662	181724388	67526233	3	31222											
OBSCN	84033	broad.mit.edu	37	1	228430986	228430986	+	Missense_Mutation	SNP	C	C	T			TCGA-HW-A5KK-01A-11D-A27K-08	TCGA-HW-A5KK-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b22eb7-4e33-40b3-876c-70db5f2803d1	255ac70b-b68b-4384-be0e-057217146e1e	g.chr1:228430986C>T	ENST00000570156.2	+	11	3382	c.3308C>T	c.(3307-3309)aCg>aTg	p.T1103M	OBSCN_ENST00000284548.11_Missense_Mutation_p.T1011M|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000422127.1_Missense_Mutation_p.T1011M	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	38	Ig-like 11.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CAGGCCCAGACGGAGGTGATG	0.622													7	55					0	0	1	0	0	T	228430986	C	T	228430986	3	4	343	1	0	0	0	0	1	0	0	0	10860	536	19	1	3066	1	OBSCN	1	228430986	Missense_Mutation	SNP	C	TCGA-HW-A5KK-01A-11D-A27K-08	46706598	228430986	20819635	4	31223											
VAMP5	10791	broad.mit.edu	37	2	85818866	85818866	+	Missense_Mutation	SNP	C	C	T			TCGA-HW-A5KK-01A-11D-A27K-08	TCGA-HW-A5KK-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b22eb7-4e33-40b3-876c-70db5f2803d1	255ac70b-b68b-4384-be0e-057217146e1e	g.chr2:85818866C>T	ENST00000306384.4	+	2	105	c.22C>T	c.(22-24)Cgg>Tgg	p.R8W		NM_006634.2	NP_006625.1	O95183	VAMP5_HUMAN	vesicle-associated membrane protein 5	8	v-SNARE coiled-coil homology.				cell differentiation|vesicle-mediated transport	endomembrane system		p.R8W(1)		NS(1)|large_intestine(3)|lung(1)	5						AGAGTTGGAGCGGTGCCAGCA	0.602													19	98					0	0	1	0	0	T	85818866	C	T	85818866	3	4	343	1	0	0	0	0	1	0	0	0	17176	759	27	1	28	1	VAMP5	2	85818866	Missense_Mutation	SNP	C	TCGA-HW-A5KK-01A-11D-A27K-08		85818866	157380507	5	31224											
PGAP1	80055	broad.mit.edu	37	2	197708797	197708797	+	Silent	SNP	A	A	G			TCGA-HW-A5KK-01A-11D-A27K-08	TCGA-HW-A5KK-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b22eb7-4e33-40b3-876c-70db5f2803d1	255ac70b-b68b-4384-be0e-057217146e1e	g.chr2:197708797A>G	ENST00000354764.4	-	25	2454	c.2340T>C	c.(2338-2340)aaT>aaC	p.N780N		NM_024989.3	NP_079265.2	Q75T13	PGAP1_HUMAN	post-GPI attachment to proteins 1						attachment of GPI anchor to protein|C-terminal protein lipidation|intracellular protein transport|myo-inositol transport	integral to membrane|intrinsic to endoplasmic reticulum membrane	nuclease activity|phosphoric ester hydrolase activity			breast(4)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|ovary(6)|stomach(1)|urinary_tract(1)	40						AGTGTTTGGGATTCTATAAAA	0.303													4	21					0	0	1	0	0	G	197708797	A	G	197708797	2	3	343	1	0	0	0	0	0	0	0	1	11825	330	12	3		3	PGAP1	2	197708797	Silent	SNP	A	TCGA-HW-A5KK-01A-11D-A27K-08	111889931	197708797	45490576	6	31225											
FN1	2335	broad.mit.edu	37	2	216288193	216288193	+	Missense_Mutation	SNP	G	G	C			TCGA-HW-A5KK-01A-11D-A27K-08	TCGA-HW-A5KK-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b22eb7-4e33-40b3-876c-70db5f2803d1	255ac70b-b68b-4384-be0e-057217146e1e	g.chr2:216288193G>C	ENST00000354785.4	-	9	1642	c.1273C>G	c.(1273-1275)Cta>Gta	p.L425V	FN1_ENST00000336916.4_Missense_Mutation_p.L425V|FN1_ENST00000359671.1_Missense_Mutation_p.L425V|FN1_ENST00000346544.3_Missense_Mutation_p.L425V|FN1_ENST00000357009.2_Missense_Mutation_p.L425V|FN1_ENST00000421182.1_Missense_Mutation_p.L425V|FN1_ENST00000446046.1_Missense_Mutation_p.L425V|FN1_ENST00000323926.6_Missense_Mutation_p.L425V|FN1_ENST00000426059.1_Missense_Mutation_p.L425V|FN1_ENST00000432072.2_Missense_Mutation_p.L425V|FN1_ENST00000356005.4_Missense_Mutation_p.L425V|FN1_ENST00000345488.5_Missense_Mutation_p.L425V|FN1_ENST00000357867.4_Missense_Mutation_p.L425V|FN1_ENST00000443816.1_Missense_Mutation_p.L425V			P02751	FINC_HUMAN	fibronectin 1	425	Collagen-binding.|Fibronectin type-II 2.				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TTGTTGTATAGGAAGGGGAAG	0.463													6	54					0	0	1	0	0	C	216288193	G	C	216288193	3	2	343	1	0	0	0	0	1	0	0	0	5995	991	35	4	6345	4	FN1	2	216288193	Missense_Mutation	SNP	G	TCGA-HW-A5KK-01A-11D-A27K-08	18579396	216288193	26911180	7	31226	139	2									
FN1	2335	broad.mit.edu	37	2	216288199	216288199	+	Missense_Mutation	SNP	G	G	T			TCGA-HW-A5KK-01A-11D-A27K-08	TCGA-HW-A5KK-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b22eb7-4e33-40b3-876c-70db5f2803d1	255ac70b-b68b-4384-be0e-057217146e1e	g.chr2:216288199G>T	ENST00000354785.4	-	9	1636	c.1267C>A	c.(1267-1269)Ccc>Acc	p.P423T	FN1_ENST00000336916.4_Missense_Mutation_p.P423T|FN1_ENST00000359671.1_Missense_Mutation_p.P423T|FN1_ENST00000346544.3_Missense_Mutation_p.P423T|FN1_ENST00000357009.2_Missense_Mutation_p.P423T|FN1_ENST00000421182.1_Missense_Mutation_p.P423T|FN1_ENST00000446046.1_Missense_Mutation_p.P423T|FN1_ENST00000323926.6_Missense_Mutation_p.P423T|FN1_ENST00000426059.1_Missense_Mutation_p.P423T|FN1_ENST00000432072.2_Missense_Mutation_p.P423T|FN1_ENST00000356005.4_Missense_Mutation_p.P423T|FN1_ENST00000345488.5_Missense_Mutation_p.P423T|FN1_ENST00000357867.4_Missense_Mutation_p.P423T|FN1_ENST00000443816.1_Missense_Mutation_p.P423T			P02751	FINC_HUMAN	fibronectin 1	423	Collagen-binding.|Fibronectin type-II 2.				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TATAGGAAGGGGAAGTGGCAC	0.463													6	57					0.0215528	0.0215528	1	1	0	T	216288199	G	T	216288199	3	4	343	1	0	0	0	0	1	0	0	0	5995	1232	43	5	6351	5	FN1	2	216288199	Missense_Mutation	SNP	G	TCGA-HW-A5KK-01A-11D-A27K-08	6	216288199	26911174	8	31227	139	2									
RARB	5915	broad.mit.edu	37	3	25470378	25470378	+	Splice_Site	SNP	A	A	G			TCGA-HW-A5KK-01A-11D-A27K-08	TCGA-HW-A5KK-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b22eb7-4e33-40b3-876c-70db5f2803d1	255ac70b-b68b-4384-be0e-057217146e1e	g.chr3:25470378A>G	ENST00000330688.4	+	1	577	c.156A>G	c.(154-156)caA>caG	p.Q52Q	RARB_ENST00000404969.1_Intron|RARB_ENST00000437042.2_Intron|RARB_ENST00000462272.1_3'UTR	NM_000965.3	NP_000956.2	P10826	RARB_HUMAN	retinoic acid receptor, beta	0	Modulating.				embryonic digestive tract development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	protein binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(3)|kidney(1)|large_intestine(10)|lung(11)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	28					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tamibarotene(DB04942)|Tazarotene(DB00799)	ACACTGCTCAATGTAGGTTTA	0.433													6	37					0	0	1	0	0	G	25470378	A	G	25470378	5	3	343	1	0	0	0	0	0	0	1	0	13105	115	4	3	158	3	RARB	3	25470378	Splice_Site	SNP	A	TCGA-HW-A5KK-01A-11D-A27K-08		25470378	172552052	9	31228											
CELSR3	1951	broad.mit.edu	37	3	48678778	48678778	+	Missense_Mutation	SNP	G	G	A			TCGA-HW-A5KK-01A-11D-A27K-08	TCGA-HW-A5KK-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b22eb7-4e33-40b3-876c-70db5f2803d1	255ac70b-b68b-4384-be0e-057217146e1e	g.chr3:48678778G>A	ENST00000544264.1	-	34	9299	c.9019C>T	c.(9019-9021)Cgg>Tgg	p.R3007W	CELSR3_ENST00000164024.4_Missense_Mutation_p.R3002W			Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	3002					homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CGCTGGGCCCGGCCCAGAGAA	0.652													23	110					0	0	1	0	0	A	48678778	G	A	48678778	3	1	343	1	0	0	0	0	1	0	0	0	3245	1115	39	1	946	1	CELSR3	3	48678778	Missense_Mutation	SNP	G	TCGA-HW-A5KK-01A-11D-A27K-08	23208400	48678778	149343652	10	31229											
COPB2	9276	broad.mit.edu	37	3	139085462	139085462	+	Missense_Mutation	SNP	G	G	A			TCGA-HW-A5KK-01A-11D-A27K-08	TCGA-HW-A5KK-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b22eb7-4e33-40b3-876c-70db5f2803d1	255ac70b-b68b-4384-be0e-057217146e1e	g.chr3:139085462G>A	ENST00000333188.5	-	15	2013	c.1832C>T	c.(1831-1833)cCt>cTt	p.P611L	COPB2_ENST00000507777.1_Missense_Mutation_p.P582L	NM_004766.2	NP_004757.1	P35606	COPB2_HUMAN	coatomer protein complex, subunit beta 2 (beta prime)	611					COPI coating of Golgi vesicle|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol	protein binding|structural molecule activity			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	24						TGGAATGGTAGGAAGGACCTT	0.398													9	43					0	0	1	0	0	A	139085462	G	A	139085462	3	1	343	1	0	0	0	0	1	0	0	0	3752	1000	35	2	920	2	COPB2	3	139085462	Missense_Mutation	SNP	G	TCGA-HW-A5KK-01A-11D-A27K-08	90406684	139085462	58936968	11	31230											
BMPR1B	658	broad.mit.edu	37	4	96046194	96046194	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HW-A5KK-01A-11D-A27K-08	TCGA-HW-A5KK-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b22eb7-4e33-40b3-876c-70db5f2803d1	255ac70b-b68b-4384-be0e-057217146e1e	g.chr4:96046194delC	ENST00000515059.1	+	8	790	c.507delC	c.(505-507)tacfs	p.Y169fs	BMPR1B_ENST00000264568.4_Frame_Shift_Del_p.Y169fs|BMPR1B_ENST00000440890.2_Frame_Shift_Del_p.Y199fs|BMPR1B_ENST00000394931.1_Frame_Shift_Del_p.Y169fs	NM_001203.2	NP_001194.1	O00238	BMR1B_HUMAN	bone morphogenetic protein receptor, type IB	169					BMP signaling pathway|cartilage condensation|eye development|limb morphogenesis|ovarian cumulus expansion|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	receptor complex	ATP binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta receptor activity			breast(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.51e-07)		ATGAAACTTACATTCCTCCTG	0.408													15	50	---	---	---	---						-	96046194	C	-	96046194	7	5	343	1	0	1	0	1	0	0	0	0	1469	489	17	0	525	0	BMPR1B	4	96046194	Frame_Shift_Del	DEL	C	TCGA-HW-A5KK-01A-11D-A27K-08		96046194	95108082	12	31231											
DNAJB14	79982	broad.mit.edu	37	4	100822294	100822294	+	Missense_Mutation	SNP	T	T	C			TCGA-HW-A5KK-01A-11D-A27K-08	TCGA-HW-A5KK-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b22eb7-4e33-40b3-876c-70db5f2803d1	255ac70b-b68b-4384-be0e-057217146e1e	g.chr4:100822294T>C	ENST00000442697.2	-	8	1185	c.1031A>G	c.(1030-1032)tAt>tGt	p.Y344C		NM_001031723.2|NM_001278310.1	NP_001026893.1|NP_001265239.1	Q8TBM8	DJB14_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 14	344					protein folding	integral to membrane	heat shock protein binding|unfolded protein binding			kidney(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	5				OV - Ovarian serous cystadenocarcinoma(123;4.59e-09)		TTTTGCTGCATACTGCATATC	0.373													7	53					0	0	1	0	0	C	100822294	T	C	100822294	3	2	343	1	0	0	0	0	1	0	0	0	4646	1406	49	3	112	3	DNAJB14	4	100822294	Missense_Mutation	SNP	T	TCGA-HW-A5KK-01A-11D-A27K-08	4776100	100822294	90331982	13	31232											
ELL2	22936	broad.mit.edu	37	5	95233957	95233961	+	Frame_Shift_Del	DEL	TGGAC	TGGAC	-			TCGA-HW-A5KK-01A-11D-A27K-08	TCGA-HW-A5KK-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b22eb7-4e33-40b3-876c-70db5f2803d1	255ac70b-b68b-4384-be0e-057217146e1e	g.chr5:95233957_95233961delTGGAC	ENST00000237853.4	-	8	1857_1861	c.1508_1512delGTCCA	c.(1507-1512)agtccafs	p.SP503fs	ELL2_ENST00000431061.2_Frame_Shift_Del_p.SP253fs	NM_012081.5	NP_036213.2	O00472	ELL2_HUMAN	elongation factor, RNA polymerase II, 2	503					regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter	transcription elongation factor complex				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)	24		all_cancers(142;2.04e-06)|all_epithelial(76;3.1e-09)|all_lung(232;0.00309)|Lung NSC(167;0.00454)|Ovarian(225;0.0165)|Colorectal(57;0.0343)|Breast(839;0.198)		all cancers(79;2.16e-15)		CACTGGAATTTGGACTGGAGTTATT	0.346													8	89	---	---	---	---						-	95233961	TGGAC	-	95233957	7	5	343	1	0	1	0	1	0	0	0	0	5091	1799	63	0	430	0	ELL2	5	95233957	Frame_Shift_Del	DEL	TGGAC	TCGA-HW-A5KK-01A-11D-A27K-08		95233957	85681303	14	31233											
ABLIM3	22885	broad.mit.edu	37	5	148617131	148617131	+	Missense_Mutation	SNP	T	T	C			TCGA-HW-A5KK-01A-11D-A27K-08	TCGA-HW-A5KK-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b22eb7-4e33-40b3-876c-70db5f2803d1	255ac70b-b68b-4384-be0e-057217146e1e	g.chr5:148617131T>C	ENST00000506113.1	+	10	1491	c.1009T>C	c.(1009-1011)Tcc>Ccc	p.S337P	ABLIM3_ENST00000508983.1_Missense_Mutation_p.S337P|AC012613.2_ENST00000523176.1_RNA|ABLIM3_ENST00000326685.7_Intron|RP11-331K21.1_ENST00000512647.2_RNA|RP11-331K21.1_ENST00000522685.1_RNA|ABLIM3_ENST00000309868.7_Missense_Mutation_p.S337P|ABLIM3_ENST00000519549.1_3'UTR|ABLIM3_ENST00000356541.3_Intron|ABLIM3_ENST00000504238.1_Intron			O94929	ABLM3_HUMAN	actin binding LIM protein family, member 3	337					axon guidance|cytoskeleton organization	cytoplasm	actin binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGATACATGTCCGACGAGAT	0.522													23	108					0	0	1	0	0	C	148617131	T	C	148617131	3	2	343	1	0	0	0	0	1	0	0	0	96	1667	58	3	1047	3	ABLIM3	5	148617131	Missense_Mutation	SNP	T	TCGA-HW-A5KK-01A-11D-A27K-08	53383174	148617131	32298129	15	31234											
ATP10B	23120	broad.mit.edu	37	5	160049524	160049524	+	Silent	SNP	G	G	T			TCGA-HW-A5KK-01A-11D-A27K-08	TCGA-HW-A5KK-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b22eb7-4e33-40b3-876c-70db5f2803d1	255ac70b-b68b-4384-be0e-057217146e1e	g.chr5:160049524G>T	ENST00000327245.5	-	14	2535	c.1689C>A	c.(1687-1689)acC>acA	p.T563T	CTC-348L5.1_ENST00000523598.1_RNA	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	563					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TGTCTGACAAGGTCTCCAACC	0.488													17	78					1.02788e-11	1.11214e-11	1	1	0	T	160049524	G	T	160049524	2	4	343	1	0	0	0	0	0	0	0	1	1116	987	35	4		4	ATP10B	5	160049524	Silent	SNP	G	TCGA-HW-A5KK-01A-11D-A27K-08	11432393	160049524	20865736	16	31235											
PKHD1	5314	broad.mit.edu	37	6	51897876	51897876	+	Missense_Mutation	SNP	A	A	T			TCGA-HW-A5KK-01A-11D-A27K-08	TCGA-HW-A5KK-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b22eb7-4e33-40b3-876c-70db5f2803d1	255ac70b-b68b-4384-be0e-057217146e1e	g.chr6:51897876A>T	ENST00000371117.3	-	29	3591	c.3316T>A	c.(3316-3318)Tta>Ata	p.L1106I	PKHD1_ENST00000340994.4_Missense_Mutation_p.L1106I	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	1106					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)					ACTGGATTTAAGGAAGAGACA	0.383													6	55					0	0	1	0	0	T	51897876	A	T	51897876	3	4	343	1	0	0	0	0	1	0	0	0	12019	69	3	5	9103	5	PKHD1	6	51897876	Missense_Mutation	SNP	A	TCGA-HW-A5KK-01A-11D-A27K-08		51897876	119217191	17	31236											
MAP7	9053	broad.mit.edu	37	6	136710581	136710581	+	Nonsense_Mutation	SNP	T	T	A			TCGA-HW-A5KK-01A-11D-A27K-08	TCGA-HW-A5KK-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b22eb7-4e33-40b3-876c-70db5f2803d1	255ac70b-b68b-4384-be0e-057217146e1e	g.chr6:136710581T>A	ENST00000354570.3	-	4	729	c.319A>T	c.(319-321)Aag>Tag	p.K107*	MAP7_ENST00000438100.2_Nonsense_Mutation_p.K129*|MAP7_ENST00000432797.2_5'UTR|MAP7_ENST00000454590.1_Nonsense_Mutation_p.K129*|MAP7_ENST00000544465.1_Nonsense_Mutation_p.K92*	NM_001198616.1|NM_001198617.1|NM_001198619.1|NM_003980.4	NP_001185545.1|NP_001185546.1|NP_001185548.1|NP_003971.1	Q14244	MAP7_HUMAN	microtubule-associated protein 7	107					establishment or maintenance of cell polarity|microtubule cytoskeleton organization|protein localization in plasma membrane|response to osmotic stress	basolateral plasma membrane|microtubule|microtubule associated complex|nucleus|perinuclear region of cytoplasm	receptor binding|structural molecule activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(11)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643)		AACCTCTTCTTCCGCTCTTCC	0.542													22	128					0	0	1	0	0	A	136710581	T	A	136710581	4	1	343	1	0	0	0	0	0	1	0	0	9316	1792	62	5	1990	5	MAP7	6	136710581	Nonsense_Mutation	SNP	T	TCGA-HW-A5KK-01A-11D-A27K-08	84812705	136710581	34404486	18	31237											
SYNE1	23345	broad.mit.edu	37	6	152651648	152651648	+	Silent	SNP	C	C	T			TCGA-HW-A5KK-01A-11D-A27K-08	TCGA-HW-A5KK-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b22eb7-4e33-40b3-876c-70db5f2803d1	255ac70b-b68b-4384-be0e-057217146e1e	g.chr6:152651648C>T	ENST00000367255.5	-	78	14773	c.14172G>A	c.(14170-14172)gcG>gcA	p.A4724A	SYNE1_ENST00000265368.4_Silent_p.A4724A|SYNE1_ENST00000448038.1_Silent_p.A4653A|SYNE1_ENST00000341594.5_Silent_p.A4471A|SYNE1_ENST00000423061.1_Silent_p.A4653A	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	4724					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CCCCAAGGCCCGCCACCTCGT	0.552										HNSCC(10;0.0054)			10	57					0	0	1	0	0	T	152651648	C	T	152651648	2	4	343	1	0	0	0	0	0	0	0	1	15502	639	23	1		1	SYNE1	6	152651648	Silent	SNP	C	TCGA-HW-A5KK-01A-11D-A27K-08	15941067	152651648	18463419	19	31238											
TCP10	6953	broad.mit.edu	37	6	167786722	167786722	+	Missense_Mutation	SNP	C	C	T			TCGA-HW-A5KK-01A-11D-A27K-08	TCGA-HW-A5KK-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b22eb7-4e33-40b3-876c-70db5f2803d1	255ac70b-b68b-4384-be0e-057217146e1e	g.chr6:167786722C>T	ENST00000397829.4	-	8	1083	c.916G>A	c.(916-918)Ggt>Agt	p.G306S	TCP10_ENST00000366827.2_Intron	NM_004610.3	NP_004601.3	Q12799	TCP10_HUMAN	t-complex 10	333						cytosol				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(6)	18		Breast(66;1.53e-05)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)|GBM - Glioblastoma multiforme(31;0.0386)		CTCGGGAAACCGGACCGCCGG	0.557													6	69					0	0	1	0	0	T	167786722	C	T	167786722	3	4	343	1	0	0	0	0	1	0	0	0	15770	652	23	1	68	1	TCP10	6	167786722	Missense_Mutation	SNP	C	TCGA-HW-A5KK-01A-11D-A27K-08	15135074	167786722	3328345	20	31239											
CDK13	8621	broad.mit.edu	37	7	40102644	40102644	+	Missense_Mutation	SNP	A	A	G			TCGA-HW-A5KK-01A-11D-A27K-08	TCGA-HW-A5KK-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b22eb7-4e33-40b3-876c-70db5f2803d1	255ac70b-b68b-4384-be0e-057217146e1e	g.chr7:40102644A>G	ENST00000181839.4	+	9	3330	c.2725A>G	c.(2725-2727)Act>Gct	p.T909A	CDK13_ENST00000484589.1_3'UTR|CDK13_ENST00000340829.5_Missense_Mutation_p.T909A	NM_003718.4|NM_031267.3	NP_003709.3|NP_112557.2	Q14004	CDK13_HUMAN	cyclin-dependent kinase 13	909	Protein kinase.				alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1)	49						CGAACTCTTCACTAAAAAACC	0.333													14	66					0	0	1	0	0	G	40102644	A	G	40102644	3	3	343	1	0	0	0	0	1	0	0	0	3151	159	6	3	2759	3	CDK13	7	40102644	Missense_Mutation	SNP	A	TCGA-HW-A5KK-01A-11D-A27K-08		40102644	119036019	21	31240											
POM121L12	285877	broad.mit.edu	37	7	53103839	53103839	+	Missense_Mutation	SNP	C	C	T			TCGA-HW-A5KK-01A-11D-A27K-08	TCGA-HW-A5KK-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b22eb7-4e33-40b3-876c-70db5f2803d1	255ac70b-b68b-4384-be0e-057217146e1e	g.chr7:53103839C>T	ENST00000408890.4	+	1	491	c.475C>T	c.(475-477)Cgc>Tgc	p.R159C		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	159										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						ACAGAGAgcccgccccgcagg	0.721													10	45					0	0	1	0	0	T	53103839	C	T	53103839	3	4	343	1	0	0	0	0	1	0	0	0	12289	652	23	1	477	1	POM121L12	7	53103839	Missense_Mutation	SNP	C	TCGA-HW-A5KK-01A-11D-A27K-08	13001195	53103839	106034824	22	31241											
VDAC3	7419	broad.mit.edu	37	8	42259491	42259491	+	Missense_Mutation	SNP	C	C	T			TCGA-HW-A5KK-01A-11D-A27K-08	TCGA-HW-A5KK-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b22eb7-4e33-40b3-876c-70db5f2803d1	255ac70b-b68b-4384-be0e-057217146e1e	g.chr8:42259491C>T	ENST00000392935.3	+	7	655	c.512C>T	c.(511-513)gCc>gTc	p.A171V	VDAC3_ENST00000022615.4_Missense_Mutation_p.A170V|VDAC3_ENST00000522572.1_Intron|VDAC3_ENST00000521158.1_Missense_Mutation_p.A171V	NM_001135694.2|NM_005662.6	NP_001129166.1|NP_005653.3	Q9Y277	VDAC3_HUMAN	voltage-dependent anion channel 3	170					adenine transport	mitochondrial outer membrane|pore complex	nucleotide binding|porin activity|protein binding|voltage-gated anion channel activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	7	all_cancers(6;3.86e-23)|all_lung(13;6.47e-12)|Lung NSC(13;1.08e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	BRCA - Breast invasive adenocarcinoma(8;3.48e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00266)|Lung(22;0.00849)|LUSC - Lung squamous cell carcinoma(45;0.024)		Dihydroxyaluminium(DB01375)	AATAATTTCGCCCTGGGTTAC	0.463													8	55					0	0	1	0	0	T	42259491	C	T	42259491	3	4	343	1	0	0	0	0	1	0	0	0	17208	739	26	2	530	2	VDAC3	8	42259491	Missense_Mutation	SNP	C	TCGA-HW-A5KK-01A-11D-A27K-08		42259491	104104531	23	31242											
GSDMD	79792	broad.mit.edu	37	8	144642132	144642132	+	Missense_Mutation	SNP	C	C	T			TCGA-HW-A5KK-01A-11D-A27K-08	TCGA-HW-A5KK-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b22eb7-4e33-40b3-876c-70db5f2803d1	255ac70b-b68b-4384-be0e-057217146e1e	g.chr8:144642132C>T	ENST00000526406.1	+	6	1286	c.403C>T	c.(403-405)Cat>Tat	p.H135Y	GSDMD_ENST00000262580.4_Missense_Mutation_p.H135Y|GSDMD_ENST00000533063.1_Missense_Mutation_p.H183Y	NM_001166237.1	NP_001159709.1	P57764	GSDMD_HUMAN	gasdermin D	135										breast(1)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	12						GACTCTGCTCCATGAGAGGTG	0.537													8	50					0	0	1	0	0	T	144642132	C	T	144642132	3	4	343	1	0	0	0	0	1	0	0	0	6860	594	21	2	409	2	GSDMD	8	144642132	Missense_Mutation	SNP	C	TCGA-HW-A5KK-01A-11D-A27K-08	102382641	144642132	1721890	24	31243											
GSDMD	79792	broad.mit.edu	37	8	144645068	144645068	+	Silent	SNP	C	C	A			TCGA-HW-A5KK-01A-11D-A27K-08	TCGA-HW-A5KK-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b22eb7-4e33-40b3-876c-70db5f2803d1	255ac70b-b68b-4384-be0e-057217146e1e	g.chr8:144645068C>A	ENST00000526406.1	+	14	2332	c.1449C>A	c.(1447-1449)ccC>ccA	p.P483P	GSDMD_ENST00000262580.4_Silent_p.P483P|GSDMD_ENST00000533063.1_Silent_p.P531P	NM_001166237.1	NP_001159709.1	P57764	GSDMD_HUMAN	gasdermin D	483				SGMLVPELAIPVVYLLGALTMLSETQHKLLAEALESQTLLG PLELVGSLLEQSAPWQERSTMSLPPGLLGNSWGEGAPAWVL LDECGLELGEDTPHVCWEPQAQGRMCALYASLALLSGLSQE P -> PECWCRNSLSLLSTCWG (in Ref. 1; AAG22861).						breast(1)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	12						GCCAGGAGCCCCACTAGCCTG	0.667													5	29					0.00116845	0.00122409	1	1	0	A	144645068	C	A	144645068	2	1	343	1	0	0	0	0	0	0	0	1	6860	610	22	5		5	GSDMD	8	144645068	Silent	SNP	C	TCGA-HW-A5KK-01A-11D-A27K-08	2936	144645068	1718954	25	31244											
SLC24A2	25769	broad.mit.edu	37	9	19786146	19786146	+	Missense_Mutation	SNP	C	C	G			TCGA-HW-A5KK-01A-11D-A27K-08	TCGA-HW-A5KK-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b22eb7-4e33-40b3-876c-70db5f2803d1	255ac70b-b68b-4384-be0e-057217146e1e	g.chr9:19786146C>G	ENST00000341998.2	-	1	780	c.719G>C	c.(718-720)cGa>cCa	p.R240P	SLC24A2_ENST00000286344.3_Missense_Mutation_p.R240P	NM_001193288.2|NM_020344.3	NP_001180217.1|NP_065077.1	Q9UI40	NCKX2_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 2	240					visual perception	integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			endometrium(3)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33				GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443)		AGACACATCTCGAAAGAGCGG	0.393													10	82					0	0	1	0	0	G	19786146	C	G	19786146	3	3	343	1	0	0	0	0	1	0	0	0	14521	884	31	5	1306	5	SLC24A2	9	19786146	Missense_Mutation	SNP	C	TCGA-HW-A5KK-01A-11D-A27K-08		19786146	121427285	26	31245											
GLE1	2733	broad.mit.edu	37	9	131298722	131298722	+	Missense_Mutation	SNP	G	G	A			TCGA-HW-A5KK-01A-11D-A27K-08	TCGA-HW-A5KK-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b22eb7-4e33-40b3-876c-70db5f2803d1	255ac70b-b68b-4384-be0e-057217146e1e	g.chr9:131298722G>A	ENST00000309971.4	+	12	1841	c.1735G>A	c.(1735-1737)Gct>Act	p.A579T	GLE1_ENST00000539582.1_Missense_Mutation_p.A325T|RP11-216B9.6_ENST00000434999.1_RNA|GLE1_ENST00000372770.4_Missense_Mutation_p.A579T	NM_001003722.1	NP_001003722.1	Q53GS7	GLE1_HUMAN	GLE1 RNA export mediator	579					poly(A)+ mRNA export from nucleus|protein transport|transmembrane transport	cytoplasm|nuclear pore	protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	16						TCTCTACGCTGCTATCATCCA	0.468													4	55					0	0	1	0	0	A	131298722	G	A	131298722	3	1	343	1	0	0	0	0	1	0	0	0	6477	1319	46	2	1781	2	GLE1	9	131298722	Missense_Mutation	SNP	G	TCGA-HW-A5KK-01A-11D-A27K-08	111512576	131298722	9914709	27	31246											
NANOS1	340719	broad.mit.edu	37	10	120789635	120789637	+	In_Frame_Del	DEL	GAC	GAC	-			TCGA-HW-A5KK-01A-11D-A27K-08	TCGA-HW-A5KK-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b22eb7-4e33-40b3-876c-70db5f2803d1	255ac70b-b68b-4384-be0e-057217146e1e	g.chr10:120789635_120789637delGAC	ENST00000425699.1	+	1	408_410	c.322_324delGAC	c.(322-324)gacdel	p.D112del		NM_199461.2	NP_955631.1	Q8WY41	NANO1_HUMAN	nanos homolog 1 (Drosophila)	112					epithelial cell migration	perinuclear region of cytoplasm	protein binding|RNA binding|translation repressor activity|zinc ion binding			lung(1)	1		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0193)		ctacgacgaggacgacgacgacg	0.788													2	4	---	---	---	---						-	120789637	GAC	-	120789635	7	5	343	1	0	1	0	1	0	0	0	0	10199	1174	41	0	324	0	NANOS1	10	120789635	In_Frame_Del	DEL	GAC	TCGA-HW-A5KK-01A-11D-A27K-08		120789635	14745112	28	31247											
NAV2	89797	broad.mit.edu	37	11	19970369	19970369	+	Silent	SNP	C	C	T			TCGA-HW-A5KK-01A-11D-A27K-08	TCGA-HW-A5KK-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b22eb7-4e33-40b3-876c-70db5f2803d1	255ac70b-b68b-4384-be0e-057217146e1e	g.chr11:19970369C>T	ENST00000396085.1	+	10	2749	c.2388C>T	c.(2386-2388)gaC>gaT	p.D796D	NAV2_ENST00000360655.4_Silent_p.D732D|NAV2_ENST00000527559.2_Silent_p.D748D|NAV2_ENST00000349880.4_Silent_p.D796D|NAV2_ENST00000540292.1_Silent_p.D750D|NAV2_ENST00000396087.3_Silent_p.D819D	NM_182964.5	NP_892009.3	Q8IVL1	NAV2_HUMAN	neuron navigator 2	819						nucleus	ATP binding|helicase activity	p.D819D(1)		NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						AAGCAGGAGACGCCCCCTCAA	0.617													11	73					0	0	1	0	0	T	19970369	C	T	19970369	2	4	343	1	0	0	0	0	0	0	0	1	10232	535	19	1		1	NAV2	11	19970369	Silent	SNP	C	TCGA-HW-A5KK-01A-11D-A27K-08		19970369	115036147	29	31248											
ADAMTS15	170689	broad.mit.edu	37	11	130332501	130332501	+	Silent	SNP	C	C	T			TCGA-HW-A5KK-01A-11D-A27K-08	TCGA-HW-A5KK-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b22eb7-4e33-40b3-876c-70db5f2803d1	255ac70b-b68b-4384-be0e-057217146e1e	g.chr11:130332501C>T	ENST00000299164.2	+	4	1368	c.1368C>T	c.(1366-1368)tcC>tcT	p.S456S		NM_139055.2	NP_620686.1	Q8TE58	ATS15_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 15	456	Disintegrin.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1)	36	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)		GCGTGGGCTCCAAGCCCTGTC	0.647													17	121					0	0	1	0	0	T	130332501	C	T	130332501	2	4	343	1	0	0	0	0	0	0	0	1	259	581	21	2		2	ADAMTS15	11	130332501	Silent	SNP	C	TCGA-HW-A5KK-01A-11D-A27K-08	110362132	130332501	4674015	30	31249											
PRB3	5544	broad.mit.edu	37	12	11420209	11420209	+	Missense_Mutation	SNP	G	G	A			TCGA-HW-A5KK-01A-11D-A27K-08	TCGA-HW-A5KK-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b22eb7-4e33-40b3-876c-70db5f2803d1	255ac70b-b68b-4384-be0e-057217146e1e	g.chr12:11420209G>A	ENST00000381842.3	-	5	884	c.847C>T	c.(847-849)Ccc>Tcc	p.P283S	PRB3_ENST00000279573.7_3'UTR|PRB3_ENST00000538488.1_Missense_Mutation_p.P283S|PRB3_ENST00000440870.3_5'UTR	NM_006249.4	NP_006240.4	Q04118	PRB3_HUMAN	proline-rich protein BstNI subfamily 3	283	Pro-rich.					extracellular region	Gram-negative bacterial cell surface binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5)	25			OV - Ovarian serous cystadenocarcinoma(49;0.201)			TTTCCAGCGGGAGGTGGCAGA	0.622													36	208					0	0	1	0	0	A	11420209	G	A	11420209	3	1	343	1	0	0	0	0	1	0	0	0	12496	1174	41	2	86	2	PRB3	12	11420209	Missense_Mutation	SNP	G	TCGA-HW-A5KK-01A-11D-A27K-08		11420209	122431686	31	31250											
SPRYD3	84926	broad.mit.edu	37	12	53468957	53468957	+	Missense_Mutation	SNP	A	A	C			TCGA-HW-A5KK-01A-11D-A27K-08	TCGA-HW-A5KK-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b22eb7-4e33-40b3-876c-70db5f2803d1	255ac70b-b68b-4384-be0e-057217146e1e	g.chr12:53468957A>C	ENST00000301463.4	-	4	379	c.293T>G	c.(292-294)cTg>cGg	p.L98R	SPRYD3_ENST00000547837.1_Missense_Mutation_p.L135R	NM_032840.2	NP_116229.1	Q8NCJ5	SPRY3_HUMAN	SPRY domain containing 3	98	B30.2/SPRY.									central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	17						CTGAGGGACCAGCCCCACAGC	0.562													27	167					0	0	1	0	0	C	53468957	A	C	53468957	3	2	343	1	0	0	0	0	1	0	0	0	15165	188	7	5	1067	5	SPRYD3	12	53468957	Missense_Mutation	SNP	A	TCGA-HW-A5KK-01A-11D-A27K-08	42048748	53468957	80382938	32	31251											
MGAT4C	25834	broad.mit.edu	37	12	86374059	86374059	+	Missense_Mutation	SNP	G	G	A			TCGA-HW-A5KK-01A-11D-A27K-08	TCGA-HW-A5KK-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b22eb7-4e33-40b3-876c-70db5f2803d1	255ac70b-b68b-4384-be0e-057217146e1e	g.chr12:86374059G>A	ENST00000604798.1	-	8	1649	c.445C>T	c.(445-447)Cgt>Tgt	p.R149C	MGAT4C_ENST00000552435.2_Intron|MGAT4C_ENST00000393205.2_Missense_Mutation_p.R178C|MGAT4C_ENST00000548651.1_Missense_Mutation_p.R149C|MGAT4C_ENST00000552808.2_Missense_Mutation_p.R149C|MGAT4C_ENST00000549405.2_Missense_Mutation_p.R149C|MGAT4C_ENST00000332156.1_Missense_Mutation_p.R149C			Q9UBM8	MGT4C_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative)	149					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						ATGGCATCACGCCAGGAAGAA	0.398													12	72					0	0	1	0	0	A	86374059	G	A	86374059	3	1	343	1	0	0	0	0	1	0	0	0	9597	1087	38	1	995	1	MGAT4C	12	86374059	Missense_Mutation	SNP	G	TCGA-HW-A5KK-01A-11D-A27K-08	32905102	86374059	47477836	33	31252											
NCOR2	9612	broad.mit.edu	37	12	124829298	124829298	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HW-A5KK-01A-11D-A27K-08	TCGA-HW-A5KK-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b22eb7-4e33-40b3-876c-70db5f2803d1	255ac70b-b68b-4384-be0e-057217146e1e	g.chr12:124829298delC	ENST00000356219.3	-	33	4735	c.4580delG	c.(4579-4581)ggcfs	p.G1527fs	NCOR2_ENST00000429285.2_Frame_Shift_Del_p.G1510fs|NCOR2_ENST00000404621.1_Frame_Shift_Del_p.G1510fs|NCOR2_ENST00000404121.2_Frame_Shift_Del_p.G1081fs|NCOR2_ENST00000405201.1_Frame_Shift_Del_p.G1520fs|NCOR2_ENST00000397355.1_Frame_Shift_Del_p.G1511fs	NM_006312.5	NP_006303.4	Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	1528					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		CGCAATGGAGCCCCCCGAGCT	0.706													2	4	---	---	---	---						-	124829298	C	-	124829298	7	5	343	1	0	1	0	1	0	0	0	0	10283	739	26	0	3049	0	NCOR2	12	124829298	Frame_Shift_Del	DEL	C	TCGA-HW-A5KK-01A-11D-A27K-08	38455239	124829298	9022597	34	31253											
OR11H12	440153	broad.mit.edu	37	14	19378084	19378084	+	Missense_Mutation	SNP	G	G	T			TCGA-HW-A5KK-01A-11D-A27K-08	TCGA-HW-A5KK-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b22eb7-4e33-40b3-876c-70db5f2803d1	255ac70b-b68b-4384-be0e-057217146e1e	g.chr14:19378084G>T	ENST00000550708.1	+	1	563	c.491G>T	c.(490-492)tGg>tTg	p.W164L		NM_001013354.1|NM_001197287.1	NP_001013372.1|NP_001184216.1	B2RN74	O11HC_HUMAN	olfactory receptor, family 11, subfamily H, member 12	164					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		ATACTGTGCTGGGTTTGTGGA	0.488													9	580					0.00621372	0.00640789	1	1	0	T	19378084	G	T	19378084	3	4	343	1	0	0	0	0	1	0	0	0	10975	1357	47	5	493	5	OR11H12	14	19378084	Missense_Mutation	SNP	G	TCGA-HW-A5KK-01A-11D-A27K-08		19378084	87971456	35	31254											
SPTB	6710	broad.mit.edu	37	14	65239642	65239642	+	Missense_Mutation	SNP	G	G	A	rs149727354		TCGA-HW-A5KK-01A-11D-A27K-08	TCGA-HW-A5KK-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b22eb7-4e33-40b3-876c-70db5f2803d1	255ac70b-b68b-4384-be0e-057217146e1e	g.chr14:65239642G>A	ENST00000389722.3	-	25	5262	c.5209C>T	c.(5209-5211)Cgg>Tgg	p.R1737W	SPTB_ENST00000556626.1_Missense_Mutation_p.R1737W|SPTB_ENST00000389720.3_Missense_Mutation_p.R1737W|SPTB_ENST00000542895.1_Missense_Mutation_p.R1737W|SPTB_ENST00000389721.5_Missense_Mutation_p.R1737W	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	1737					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		CCGGTCTCCCGGGCAAAGTCC	0.622													5	42					0	0	1	0	0	A	65239642	G	A	65239642	3	1	343	1	0	0	0	0	1	0	0	0	15174	1115	39	1	1890	1	SPTB	14	65239642	Missense_Mutation	SNP	G	TCGA-HW-A5KK-01A-11D-A27K-08	45861558	65239642	42109898	36	31255											
FHOD1	29109	broad.mit.edu	37	16	67268290	67268290	+	Missense_Mutation	SNP	C	C	T			TCGA-HW-A5KK-01A-11D-A27K-08	TCGA-HW-A5KK-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b22eb7-4e33-40b3-876c-70db5f2803d1	255ac70b-b68b-4384-be0e-057217146e1e	g.chr16:67268290C>T	ENST00000258201.4	-	12	1652	c.1405G>A	c.(1405-1407)Gcc>Acc	p.A469T		NM_013241.2	NP_037373.2	Q9Y613	FHOD1_HUMAN	formin homology 2 domain containing 1	469					actin cytoskeleton organization	cytoplasm|cytoskeleton|nucleus	actin binding			breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	34		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)		TTGGGCATGGCCCCGGCAAGT	0.642													3	31					0	0	1	0	0	T	67268290	C	T	67268290	3	4	343	1	0	0	0	0	1	0	0	0	5915	739	26	2	2133	2	FHOD1	16	67268290	Missense_Mutation	SNP	C	TCGA-HW-A5KK-01A-11D-A27K-08		67268290	23086463	37	31256											
SLC13A2	9058	broad.mit.edu	37	17	26817446	26817446	+	Missense_Mutation	SNP	C	C	T			TCGA-HW-A5KK-01A-11D-A27K-08	TCGA-HW-A5KK-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b22eb7-4e33-40b3-876c-70db5f2803d1	255ac70b-b68b-4384-be0e-057217146e1e	g.chr17:26817446C>T	ENST00000444914.3	+	3	773	c.353C>T	c.(352-354)cCg>cTg	p.P118L	SLC13A2_ENST00000537681.1_Intron|SLC13A2_ENST00000314669.5_Intron|SLC13A2_ENST00000545060.1_Intron	NM_001145975.1	NP_001139447.1	Q13183	S13A2_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2	69						integral to plasma membrane|membrane fraction	low affinity sodium:dicarboxylate symporter activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_lung(13;0.000871)|Lung NSC(42;0.0027)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	Succinic acid(DB00139)	GTCTTCCCGCCGCTCAGCCAT	0.612													36	194					0	0	1	0	0	T	26817446	C	T	26817446	3	4	343	1	0	0	0	0	1	0	0	0	14447	652	23	1	363	1	SLC13A2	17	26817446	Missense_Mutation	SNP	C	TCGA-HW-A5KK-01A-11D-A27K-08		26817446	54377764	38	31257											
LRRC37B	114659	broad.mit.edu	37	17	30349672	30349672	+	Missense_Mutation	SNP	G	G	A			TCGA-HW-A5KK-01A-11D-A27K-08	TCGA-HW-A5KK-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b22eb7-4e33-40b3-876c-70db5f2803d1	255ac70b-b68b-4384-be0e-057217146e1e	g.chr17:30349672G>A	ENST00000327564.7	+	1	1649	c.1588G>A	c.(1588-1590)Gtg>Atg	p.V530M	LRRC37B_ENST00000394713.3_Missense_Mutation_p.V503M|LRRC37B_ENST00000543378.2_Missense_Mutation_p.V421M|LRRC37B_ENST00000341671.7_Missense_Mutation_p.V503M|LRRC37B_ENST00000581786.1_3'UTR|LRRC37B_ENST00000584368.1_Missense_Mutation_p.V515M			Q96QE4	LR37B_HUMAN	leucine rich repeat containing 37B	503						integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	29		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)				GGATTCATTGGTGCAGTCTGA	0.507													23	111					0	0	1	0	0	A	30349672	G	A	30349672	3	1	343	1	0	0	0	0	1	0	0	0	9039	1261	44	2	1509	2	LRRC37B	17	30349672	Missense_Mutation	SNP	G	TCGA-HW-A5KK-01A-11D-A27K-08	3532226	30349672	50845538	39	31258											
ZNF521	25925	broad.mit.edu	37	18	22805969	22805969	+	Missense_Mutation	SNP	T	T	G			TCGA-HW-A5KK-01A-11D-A27K-08	TCGA-HW-A5KK-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b22eb7-4e33-40b3-876c-70db5f2803d1	255ac70b-b68b-4384-be0e-057217146e1e	g.chr18:22805969T>G	ENST00000361524.3	-	4	2061	c.1913A>C	c.(1912-1914)cAa>cCa	p.Q638P	ZNF521_ENST00000584787.1_Missense_Mutation_p.Q418P|ZNF521_ENST00000538137.2_Missense_Mutation_p.Q638P	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	638					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					AGCACCACATTGATTACAGAT	0.478			T	PAX5	ALL								23	136					0	0	1	0	0	G	22805969	T	G	22805969	3	3	343	1	0	0	0	0	1	0	0	0	18022	1812	63	5	2042	5	ZNF521	18	22805969	Missense_Mutation	SNP	T	TCGA-HW-A5KK-01A-11D-A27K-08		22805969	55271279	40	31259											
SERPINB2	5055	broad.mit.edu	37	18	61569789	61569789	+	Missense_Mutation	SNP	C	C	G			TCGA-HW-A5KK-01A-11D-A27K-08	TCGA-HW-A5KK-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b22eb7-4e33-40b3-876c-70db5f2803d1	255ac70b-b68b-4384-be0e-057217146e1e	g.chr18:61569789C>G	ENST00000457692.1	+	8	1163	c.830C>G	c.(829-831)aCt>aGt	p.T277S	SERPINB2_ENST00000299502.4_Missense_Mutation_p.T277S	NM_001143818.1	NP_001137290.1	P05120	PAI2_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 2	277					anti-apoptosis|blood coagulation|fibrinolysis|regulation of proteolysis	extracellular space|Golgi apparatus|plasma membrane	serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|liver(1)|lung(12)|prostate(2)|skin(2)|stomach(1)	32		Esophageal squamous(42;0.131)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)	GATGTGTCCACTGGCTTGGAG	0.418													9	118					0	0	1	0	0	G	61569789	C	G	61569789	3	3	343	1	0	0	0	0	1	0	0	0	14155	565	20	4	852	4	SERPINB2	18	61569789	Missense_Mutation	SNP	C	TCGA-HW-A5KK-01A-11D-A27K-08	38763820	61569789	16507459	41	31260											
ZNF426	79088	broad.mit.edu	37	19	9646905	9646905	+	Missense_Mutation	SNP	C	C	T			TCGA-HW-A5KK-01A-11D-A27K-08	TCGA-HW-A5KK-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b22eb7-4e33-40b3-876c-70db5f2803d1	255ac70b-b68b-4384-be0e-057217146e1e	g.chr19:9646905C>T	ENST00000535489.1	-	1	340	c.4G>A	c.(4-6)Gca>Aca	p.A2T	ZNF426_ENST00000593003.1_5'UTR|ZNF426_ENST00000253115.2_Missense_Mutation_p.A2T|ZNF426_ENST00000589289.1_Missense_Mutation_p.A2T			Q9BUY5	ZN426_HUMAN	zinc finger protein 426	2					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	20						TCAGCAGCTGCCATCCCGCGA	0.463													10	66					0	0	1	0	0	T	9646905	C	T	9646905	3	4	343	1	0	0	0	0	1	0	0	0	17957	739	26	2	1684	2	ZNF426	19	9646905	Missense_Mutation	SNP	C	TCGA-HW-A5KK-01A-11D-A27K-08		9646905	49482078	42	31261											
EHD2	30846	broad.mit.edu	37	19	48229108	48229108	+	Missense_Mutation	SNP	G	G	A			TCGA-HW-A5KK-01A-11D-A27K-08	TCGA-HW-A5KK-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b22eb7-4e33-40b3-876c-70db5f2803d1	255ac70b-b68b-4384-be0e-057217146e1e	g.chr19:48229108G>A	ENST00000263277.3	+	4	793	c.542G>A	c.(541-543)cGc>cAc	p.R181H	EHD2_ENST00000538399.1_Missense_Mutation_p.R45H|CTD-2571L23.8_ENST00000599924.1_lincRNA	NM_014601.3	NP_055416.2	Q9NZN4	EHD2_HUMAN	EH-domain containing 2	181					blood coagulation|endocytic recycling	nucleus|plasma membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding			endometrium(3)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	19		all_cancers(25;6.74e-07)|all_lung(116;2.02e-05)|Lung NSC(112;3.77e-05)|all_epithelial(76;4.89e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		OV - Ovarian serous cystadenocarcinoma(262;0.000336)|all cancers(93;0.000415)|Epithelial(262;0.0132)|GBM - Glioblastoma multiforme(486;0.0537)		TTCGCGGAGCGCGTGGACCTC	0.637													10	43					0	0	1	0	0	A	48229108	G	A	48229108	3	1	343	1	0	0	0	0	1	0	0	0	5004	1087	38	1	552	1	EHD2	19	48229108	Missense_Mutation	SNP	G	TCGA-HW-A5KK-01A-11D-A27K-08	38582203	48229108	10899875	43	31262											
CEP250	11190	broad.mit.edu	37	20	34059913	34059913	+	Silent	SNP	T	T	C			TCGA-HW-A5KK-01A-11D-A27K-08	TCGA-HW-A5KK-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b22eb7-4e33-40b3-876c-70db5f2803d1	255ac70b-b68b-4384-be0e-057217146e1e	g.chr20:34059913T>C	ENST00000397527.1	+	11	1707	c.987T>C	c.(985-987)tcT>tcC	p.S329S	CEP250_ENST00000342580.4_Silent_p.S329S	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	329					centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			ATGAAGCATCTCTTAGTAGGA	0.423													25	166					0	0	1	0	0	C	34059913	T	C	34059913	2	2	343	1	0	0	0	0	0	0	0	1	3274	1538	54	3		3	CEP250	20	34059913	Silent	SNP	T	TCGA-HW-A5KK-01A-11D-A27K-08		34059913	28965607	44	31263											
YTHDF1	54915	broad.mit.edu	37	20	61833842	61833842	+	Missense_Mutation	SNP	C	C	T			TCGA-HW-A5KK-01A-11D-A27K-08	TCGA-HW-A5KK-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b22eb7-4e33-40b3-876c-70db5f2803d1	255ac70b-b68b-4384-be0e-057217146e1e	g.chr20:61833842C>T	ENST00000370339.3	-	4	1791	c.1450G>A	c.(1450-1452)Gta>Ata	p.V484I	YTHDF1_ENST00000370334.4_Intron|YTHDF1_ENST00000370333.4_Missense_Mutation_p.V434I	NM_017798.3	NP_060268.2	Q9BYJ9	YTHD1_HUMAN	YTH domain family, member 1	484	YTH.									NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)	24						TTATTGGGTACATCCTTAACA	0.537													15	81					0	0	1	0	0	T	61833842	C	T	61833842	3	4	343	1	0	0	0	0	1	0	0	0	17558	478	17	2	237	2	YTHDF1	20	61833842	Missense_Mutation	SNP	C	TCGA-HW-A5KK-01A-11D-A27K-08	27773929	61833842	1191678	45	31264											
LZTR1	8216	broad.mit.edu	37	22	21347144	21347144	+	Missense_Mutation	SNP	G	G	A			TCGA-HW-A5KK-01A-11D-A27K-08	TCGA-HW-A5KK-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b22eb7-4e33-40b3-876c-70db5f2803d1	255ac70b-b68b-4384-be0e-057217146e1e	g.chr22:21347144G>A	ENST00000215739.8	+	11	1570	c.1211G>A	c.(1210-1212)gGg>gAg	p.G404E	LZTR1_ENST00000479606.1_3'UTR|LZTR1_ENST00000389355.3_Missense_Mutation_p.G385E	NM_006767.3	NP_006758.2	Q8N653	LZTR1_HUMAN	leucine-zipper-like transcription regulator 1	404					anatomical structure morphogenesis		sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			TACATCTTCGGGGGCACGGTG	0.652													4	12					0	0	1	0	0	A	21347144	G	A	21347144	3	1	343	1	0	0	0	0	1	0	0	0	9183	1232	43	2	1253	2	LZTR1	22	21347144	Missense_Mutation	SNP	G	TCGA-HW-A5KK-01A-11D-A27K-08		21347144	29957422	46	31265											
RAC2	5880	broad.mit.edu	37	22	37637140	37637140	+	Silent	SNP	C	C	T			TCGA-HW-A5KK-01A-11D-A27K-08	TCGA-HW-A5KK-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b22eb7-4e33-40b3-876c-70db5f2803d1	255ac70b-b68b-4384-be0e-057217146e1e	g.chr22:37637140C>T	ENST00000401529.3	-	3	273	c.174G>A	c.(172-174)gcG>gcA	p.A58A	RAC2_ENST00000405484.1_Intron|RAC2_ENST00000406508.1_Intron|RAC2_ENST00000249071.6_Intron			P15153	RAC2_HUMAN	ras-related C3 botulinum toxin substrate 2 (rho family, small GTP binding protein Rac2)	0					axon guidance|platelet activation|regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding|GTPase activity|protein binding			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(2)|upper_aerodigestive_tract(1)	12						GACACCAACACGCTCCCTCCA	0.647													4	20					0	0	1	0	0	T	37637140	C	T	37637140	2	4	343	1	0	0	0	0	0	0	0	1	13027	551	19	1		1	RAC2	22	37637140	Silent	SNP	C	TCGA-HW-A5KK-01A-11D-A27K-08	16289996	37637140	13667426	47	31266											
SLC22A15	55356	broad.mit.edu	37	1	116577849	116577849	+	Missense_Mutation	SNP	C	C	T			TCGA-HW-A5KL-01A-11D-A27K-08	TCGA-HW-A5KL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6e34202-c506-416d-bc41-de772c33295e	31928eee-d7e5-4671-950d-0defa8244100	g.chr1:116577849C>T	ENST00000369503.4	+	7	1116	c.986C>T	c.(985-987)gCg>gTg	p.A329V	SLC22A15_ENST00000481127.1_3'UTR	NM_018420.2	NP_060890.2	Q8IZD6	S22AF_HUMAN	solute carrier family 22, member 15	329					ion transport	integral to membrane	transmembrane transporter activity			endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|urinary_tract(1)	17	Lung SC(450;0.184)	all_cancers(81;3.17e-06)|all_epithelial(167;2.32e-06)|all_lung(203;9.81e-06)|Lung NSC(69;5.94e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		ACTCTGAGTGCGGGTGATCTA	0.453													4	78					0	0	1	0	0	T	116577849	C	T	116577849	3	4	344	1	0	0	0	0	1	0	0	0	14501	768	27	1	1012	1	SLC22A15	1	116577849	Missense_Mutation	SNP	C	TCGA-HW-A5KL-01A-11D-A27K-08		116577849	132672772	1	31267											
ASPM	259266	broad.mit.edu	37	1	197060134	197060134	+	Missense_Mutation	SNP	A	A	G			TCGA-HW-A5KL-01A-11D-A27K-08	TCGA-HW-A5KL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6e34202-c506-416d-bc41-de772c33295e	31928eee-d7e5-4671-950d-0defa8244100	g.chr1:197060134A>G	ENST00000367409.4	-	23	9738	c.9482T>C	c.(9481-9483)aTt>aCt	p.I3161T	ASPM_ENST00000294732.7_Missense_Mutation_p.I1576T|ASPM_ENST00000367408.1_Missense_Mutation_p.I826T	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	3161					mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						ATATTTCTGAATAAATCTCTT	0.328													3	37					0	0	1	0	0	G	197060134	A	G	197060134	3	3	344	1	0	0	0	0	1	0	0	0	1055	101	4	3	975	3	ASPM	1	197060134	Missense_Mutation	SNP	A	TCGA-HW-A5KL-01A-11D-A27K-08	80482285	197060134	52190487	2	31268											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-HW-A5KL-01A-11D-A27K-08	TCGA-HW-A5KL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6e34202-c506-416d-bc41-de772c33295e	31928eee-d7e5-4671-950d-0defa8244100	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	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								18	40					0	0	1	0	0	T	209113112	C	T	209113112	3	4	344	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HW-A5KL-01A-11D-A27K-08		209113112	34086261	3	31269											
GRIP2	80852	broad.mit.edu	37	3	14535207	14535207	+	RNA	SNP	C	C	T			TCGA-HW-A5KL-01A-11D-A27K-08	TCGA-HW-A5KL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6e34202-c506-416d-bc41-de772c33295e	31928eee-d7e5-4671-950d-0defa8244100	g.chr3:14535207C>T	ENST00000273083.3	-	0	3162							Q9C0E4	GRIP2_HUMAN	glutamate receptor interacting protein 2						synaptic transmission	cytosol|plasma membrane	protein binding			endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25						GCCTGGCGATCGGGGGGCCCG	0.672													9	9					0	0	1	0	0	T	14535207	C	T	14535207	1	4	344	0	1	0	0	0	0	0	0	0	6829	884	31	1		1	GRIP2	3	14535207	RNA	SNP	C	TCGA-HW-A5KL-01A-11D-A27K-08		14535207	183487223	4	31270											
HGFAC	3083	broad.mit.edu	37	4	3443797	3443797	+	Silent	SNP	C	C	G			TCGA-HW-A5KL-01A-11D-A27K-08	TCGA-HW-A5KL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6e34202-c506-416d-bc41-de772c33295e	31928eee-d7e5-4671-950d-0defa8244100	g.chr4:3443797C>G	ENST00000382774.3	+	1	184	c.69C>G	c.(67-69)ctC>ctG	p.L23L	HGFAC_ENST00000511533.1_Silent_p.L23L	NM_001528.2	NP_001519.1	Q04756	HGFA_HUMAN	HGF activator	23					proteolysis	extracellular space	protein binding|serine-type endopeptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		TCCTCCTCCTCCTGCTGCTGC	0.716													3	60					0	0	1	0	0	G	3443797	C	G	3443797	2	3	344	1	0	0	0	0	0	0	0	1	7127	842	30	5		5	HGFAC	4	3443797	Silent	SNP	C	TCGA-HW-A5KL-01A-11D-A27K-08		3443797	187710479	5	31271											
SLC6A3	6531	broad.mit.edu	37	5	1411405	1411405	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HW-A5KL-01A-11D-A27K-08	TCGA-HW-A5KL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6e34202-c506-416d-bc41-de772c33295e	31928eee-d7e5-4671-950d-0defa8244100	g.chr5:1411405delC	ENST00000270349.9	-	9	1349	c.1222delG	c.(1222-1224)gccfs	p.A408fs	SLC6A3_ENST00000453492.2_Frame_Shift_Del_p.A408fs	NM_001044.4	NP_001035.1	Q01959	SC6A3_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 3	408					cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body				breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)	AAGACCACGGCCCAGGCTGAG	0.637													2	4	---	---	---	---						-	1411405	C	-	1411405	7	5	344	1	0	1	0	1	0	0	0	0	14740	739	26	0	668	0	SLC6A3	5	1411405	Frame_Shift_Del	DEL	C	TCGA-HW-A5KL-01A-11D-A27K-08		1411405	179503855	6	31272											
ARSK	153642	broad.mit.edu	37	5	94918697	94918697	+	Missense_Mutation	SNP	G	G	A			TCGA-HW-A5KL-01A-11D-A27K-08	TCGA-HW-A5KL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6e34202-c506-416d-bc41-de772c33295e	31928eee-d7e5-4671-950d-0defa8244100	g.chr5:94918697G>A	ENST00000380009.4	+	4	699	c.494G>A	c.(493-495)cGt>cAt	p.R165H		NM_198150.2	NP_937793.1	Q6UWY0	ARSK_HUMAN	arylsulfatase family, member K	165						extracellular region	arylsulfatase activity|metal ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(1)	16		all_cancers(142;3.38e-06)|all_epithelial(76;6.57e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473)		all cancers(79;6.5e-16)		AATCTTATCCGTAACAGGACT	0.418													4	124					0	0	1	0	0	A	94918697	G	A	94918697	3	1	344	1	0	0	0	0	1	0	0	0	995	1145	40	1	508	1	ARSK	5	94918697	Missense_Mutation	SNP	G	TCGA-HW-A5KL-01A-11D-A27K-08	93507292	94918697	85996563	7	31273											
RUNX2	860	broad.mit.edu	37	6	45390466	45390466	+	Silent	SNP	A	A	G			TCGA-HW-A5KL-01A-11D-A27K-08	TCGA-HW-A5KL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6e34202-c506-416d-bc41-de772c33295e	31928eee-d7e5-4671-950d-0defa8244100	g.chr6:45390466A>G	ENST00000371438.1	+	2	553	c.195A>G	c.(193-195)caA>caG	p.Q65Q	RUNX2_ENST00000371432.3_Silent_p.Q51Q|RUNX2_ENST00000359524.5_Silent_p.Q51Q|RUNX2_ENST00000465038.2_Silent_p.Q65Q|RUNX2_ENST00000352853.5_Silent_p.Q133Q|RUNX2_ENST00000371436.6_Silent_p.Q65Q|RUNX2_ENST00000576263.1_Silent_p.Q65Q|RUNX2_ENST00000541979.1_Silent_p.Q133Q	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	65	Poly-Gln.				negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						agcagcagcaacagcagcagc	0.731													5	51					0	0	1	0	0	G	45390466	A	G	45390466	2	3	344	1	0	0	0	0	0	0	0	1	13800	40	2	3		3	RUNX2	6	45390466	Silent	SNP	A	TCGA-HW-A5KL-01A-11D-A27K-08		45390466	125724601	8	31274											
EIF3B	8662	broad.mit.edu	37	7	2414229	2414229	+	Missense_Mutation	SNP	C	C	T			TCGA-HW-A5KL-01A-11D-A27K-08	TCGA-HW-A5KL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6e34202-c506-416d-bc41-de772c33295e	31928eee-d7e5-4671-950d-0defa8244100	g.chr7:2414229C>T	ENST00000360876.4	+	13	1933	c.1877C>T	c.(1876-1878)gCg>gTg	p.A626V	EIF3B_ENST00000397011.2_Missense_Mutation_p.A626V	NM_001037283.1	NP_001032360.1	P55884	EIF3B_HUMAN	eukaryotic translation initiation factor 3, subunit B	626					regulation of translational initiation	cytosol|eukaryotic translation initiation factor 3 complex	nucleotide binding|protein complex scaffold|translation initiation factor activity			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	24		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;7.76e-14)		GTGGTGTTGGCGGGCCTGAGG	0.627													4	134					0	0	1	0	0	T	2414229	C	T	2414229	3	4	344	1	0	0	0	0	1	0	0	0	5039	768	27	1	1927	1	EIF3B	7	2414229	Missense_Mutation	SNP	C	TCGA-HW-A5KL-01A-11D-A27K-08		2414229	156724434	9	31275											
FAM180A	389558	broad.mit.edu	37	7	135418932	135418932	+	Missense_Mutation	SNP	G	G	A			TCGA-HW-A5KL-01A-11D-A27K-08	TCGA-HW-A5KL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6e34202-c506-416d-bc41-de772c33295e	31928eee-d7e5-4671-950d-0defa8244100	g.chr7:135418932G>A	ENST00000338588.3	-	3	578	c.313C>T	c.(313-315)Cgc>Tgc	p.R105C	FAM180A_ENST00000415751.1_Missense_Mutation_p.R105C|FAM180A_ENST00000435869.1_Intron	NM_205855.3	NP_995327.1	Q6UWF9	F180A_HUMAN	family with sequence similarity 180, member A	105						extracellular region				endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)	14						CTGAGCCGGCGGATGTCTGGG	0.602													12	195					0	0	1	0	0	A	135418932	G	A	135418932	3	1	344	1	0	0	0	0	1	0	0	0	5537	1116	39	1	212	1	FAM180A	7	135418932	Missense_Mutation	SNP	G	TCGA-HW-A5KL-01A-11D-A27K-08	133004703	135418932	23719731	10	31276											
TTC17	55761	broad.mit.edu	37	11	43423074	43423074	+	Missense_Mutation	SNP	G	G	A			TCGA-HW-A5KL-01A-11D-A27K-08	TCGA-HW-A5KL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6e34202-c506-416d-bc41-de772c33295e	31928eee-d7e5-4671-950d-0defa8244100	g.chr11:43423074G>A	ENST00000039989.4	+	10	1312	c.1298G>A	c.(1297-1299)cGt>cAt	p.R433H	TTC17_ENST00000526774.1_3'UTR|TTC17_ENST00000299240.6_Missense_Mutation_p.R433H	NM_018259.5	NP_060729.2	Q96AE7	TTC17_HUMAN	tetratricopeptide repeat domain 17	433							binding			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						CGCTATCATCGTGGAGATATC	0.373													10	20					0	0	1	0	0	A	43423074	G	A	43423074	3	1	344	1	0	0	0	0	1	0	0	0	16746	1145	40	1	1336	1	TTC17	11	43423074	Missense_Mutation	SNP	G	TCGA-HW-A5KL-01A-11D-A27K-08		43423074	91583442	11	31277											
IPO8	10526	broad.mit.edu	37	12	30827606	30827606	+	Missense_Mutation	SNP	G	G	A			TCGA-HW-A5KL-01A-11D-A27K-08	TCGA-HW-A5KL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6e34202-c506-416d-bc41-de772c33295e	31928eee-d7e5-4671-950d-0defa8244100	g.chr12:30827606G>A	ENST00000256079.4	-	7	1149	c.811C>T	c.(811-813)Cgg>Tgg	p.R271W	IPO8_ENST00000544829.1_Missense_Mutation_p.R66W	NM_006390.3	NP_006381.2	O15397	IPO8_HUMAN	importin 8	271					intracellular protein transport|signal transduction	cytoplasm|nucleus	protein transporter activity|Ran GTPase binding	p.R271W(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(16)|liver(1)|lung(22)|prostate(2)|skin(2)|urinary_tract(2)	52	all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					TCAAAGAGCCGAGCTACAATA	0.418													73	119					0	0	1	0	0	A	30827606	G	A	30827606	3	1	344	1	0	0	0	0	1	0	0	0	7842	1057	37	1	2378	1	IPO8	12	30827606	Missense_Mutation	SNP	G	TCGA-HW-A5KL-01A-11D-A27K-08		30827606	103024289	12	31278											
FANCM	57697	broad.mit.edu	37	14	45645153	45645153	+	Missense_Mutation	SNP	C	C	G			TCGA-HW-A5KL-01A-11D-A27K-08	TCGA-HW-A5KL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6e34202-c506-416d-bc41-de772c33295e	31928eee-d7e5-4671-950d-0defa8244100	g.chr14:45645153C>G	ENST00000267430.5	+	14	3281	c.3196C>G	c.(3196-3198)Ctt>Gtt	p.L1066V	FANCM_ENST00000542564.2_Missense_Mutation_p.L1040V	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	1066					DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						AAAAAGTTGCCTTTATGATAT	0.303								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				4	31					0	0	1	0	0	G	45645153	C	G	45645153	3	3	344	1	0	0	0	0	1	0	0	0	5704	681	24	4	3250	4	FANCM	14	45645153	Missense_Mutation	SNP	C	TCGA-HW-A5KL-01A-11D-A27K-08		45645153	61704387	13	31279											
PPP2R5E	5529	broad.mit.edu	37	14	63858726	63858730	+	Frame_Shift_Del	DEL	TACTA	TACTA	-			TCGA-HW-A5KL-01A-11D-A27K-08	TCGA-HW-A5KL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6e34202-c506-416d-bc41-de772c33295e	31928eee-d7e5-4671-950d-0defa8244100	g.chr14:63858726_63858730delTACTA	ENST00000337537.3	-	9	1465_1469	c.863_867delTAGTA	c.(862-867)atagtafs	p.IV288fs	PPP2R5E_ENST00000422769.2_Frame_Shift_Del_p.IV212fs|PPP2R5E_ENST00000555899.1_Frame_Shift_Del_p.IV288fs|PPP2R5E_ENST00000553266.1_5'UTR	NM_001282179.1|NM_001282180.1|NM_001282181.1|NM_001282182.1|NM_006246.2	NP_001269108.1|NP_001269109.1|NP_001269110.1|NP_001269111.1|NP_006237.1	Q16537	2A5E_HUMAN	protein phosphatase 2, regulatory subunit B', epsilon isoform	288					signal transduction	cytoplasm|intracellular membrane-bounded organelle|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)	15				OV - Ovarian serous cystadenocarcinoma(108;0.00197)|all cancers(60;0.0153)|BRCA - Breast invasive adenocarcinoma(234;0.128)		CCAGAAACTGTACTATACAATATGC	0.293													8	15	---	---	---	---						-	63858730	TACTA	-	63858726	7	5	344	1	0	1	0	1	0	0	0	0	12445	1625	57	0	560	0	PPP2R5E	14	63858726	Frame_Shift_Del	DEL	TACTA	TCGA-HW-A5KL-01A-11D-A27K-08	18213573	63858726	43490814	14	31280											
CRAMP1L	57585	broad.mit.edu	37	16	1718033	1718033	+	Missense_Mutation	SNP	C	C	T			TCGA-HW-A5KL-01A-11D-A27K-08	TCGA-HW-A5KL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6e34202-c506-416d-bc41-de772c33295e	31928eee-d7e5-4671-950d-0defa8244100	g.chr16:1718033C>T	ENST00000397412.3	+	18	3272	c.3173C>T	c.(3172-3174)tCc>tTc	p.S1058F	CRAMP1L_ENST00000293925.5_Missense_Mutation_p.S1058F|LA16c-431H6.6_ENST00000454337.1_3'UTR|CRAMP1L_ENST00000262317.4_Missense_Mutation_p.S436F|CRAMP1L_ENST00000436138.3_Missense_Mutation_p.S1055F			Q96RY5	CRML_HUMAN	Crm, cramped-like (Drosophila)	1058						nucleus	DNA binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)	22						ATACCGCTGTCCTCGTCAGAG	0.602													22	43					0	0	1	0	0	T	1718033	C	T	1718033	3	4	344	1	0	0	0	0	1	0	0	0	3869	855	30	2	3239	2	CRAMP1L	16	1718033	Missense_Mutation	SNP	C	TCGA-HW-A5KL-01A-11D-A27K-08		1718033	88636720	15	31281											
XYLT1	64131	broad.mit.edu	37	16	17202869	17202869	+	Missense_Mutation	SNP	C	C	T			TCGA-HW-A5KL-01A-11D-A27K-08	TCGA-HW-A5KL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6e34202-c506-416d-bc41-de772c33295e	31928eee-d7e5-4671-950d-0defa8244100	g.chr16:17202869C>T	ENST00000261381.6	-	12	2647	c.2563G>A	c.(2563-2565)Gca>Aca	p.A855T		NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	855					glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						AGCTTCAGTGCCTCCTCTGAA	0.562													48	38					0	0	1	0	0	T	17202869	C	T	17202869	3	4	344	1	0	0	0	0	1	0	0	0	17523	739	26	2	320	2	XYLT1	16	17202869	Missense_Mutation	SNP	C	TCGA-HW-A5KL-01A-11D-A27K-08	15484836	17202869	73151884	16	31282											
OR1D2	4991	broad.mit.edu	37	17	2995927	2995927	+	Missense_Mutation	SNP	G	G	A	rs73300984	byFrequency	TCGA-HW-A5KL-01A-11D-A27K-08	TCGA-HW-A5KL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6e34202-c506-416d-bc41-de772c33295e	31928eee-d7e5-4671-950d-0defa8244100	g.chr17:2995927G>A	ENST00000331459.1	-	1	363	c.364C>T	c.(364-366)Cgc>Tgc	p.R122C		NM_002548.2	NP_002539.2	P34982	OR1D2_HUMAN	olfactory receptor, family 1, subfamily D, member 2	122					cellular component movement|chemotaxis|protein import into nucleus, translocation|sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity			kidney(2)|large_intestine(2)|lung(10)|ovary(1)	15						GCCACATAGCGGTCATATGCC	0.537													22	103					0	0	1	0	0	A	2995927	G	A	2995927	3	1	344	1	0	0	0	0	1	0	0	0	11001	1116	39	1	577	1	OR1D2	17	2995927	Missense_Mutation	SNP	G	TCGA-HW-A5KL-01A-11D-A27K-08		2995927	78199283	17	31283											
TP53	7157	broad.mit.edu	37	17	7577586	7577586	+	Missense_Mutation	SNP	A	A	C			TCGA-HW-A5KL-01A-11D-A27K-08	TCGA-HW-A5KL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6e34202-c506-416d-bc41-de772c33295e	31928eee-d7e5-4671-950d-0defa8244100	g.chr17:7577586A>C	ENST00000420246.2	-	7	827	c.695T>G	c.(694-696)aTc>aGc	p.I232S	TP53_ENST00000445888.2_Missense_Mutation_p.I232S|TP53_ENST00000359597.4_Missense_Mutation_p.I232S|TP53_ENST00000455263.2_Missense_Mutation_p.I232S|TP53_ENST00000269305.4_Missense_Mutation_p.I232S|TP53_ENST00000413465.2_Missense_Mutation_p.I232S|TP53_ENST00000574684.1_5'UTR	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	232	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		I -> F (in sporadic cancers; somatic mutation).|I -> L (in sporadic cancers; somatic mutation).|I -> N (in sporadic cancers; somatic mutation).|I -> S (in sporadic cancers; somatic mutation).|I -> T (in sporadic cancers; somatic mutation).|I -> V (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.0?(8)|p.I232T(8)|p.I232N(6)|p.?(5)|p.I232_H233insG(3)|p.I232S(2)|p.T230fs*6(2)|p.C229_H233delCTTIH(2)|p.I232_Y236delIHYNY(1)|p.T230_Y234delTTIHY(1)|p.C229_I232del(1)|p.I139T(1)|p.V225fs*23(1)|p.D228fs*12(1)|p.I139_H140insG(1)|p.I232fs*5(1)|p.S227_I232delSDCTTI(1)|p.I232fs*8(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)		GTTGTAGTGGATGGTGGTACA	0.552		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)			40	9					0	0	1	0	0	C	7577586	A	C	7577586	3	2	344	1	0	0	0	0	1	0	0	0	16442	333	12	4	595	4	TP53	17	7577586	Missense_Mutation	SNP	A	TCGA-HW-A5KL-01A-11D-A27K-08	4581659	7577586	73617624	18	31284											
PLVAP	83483	broad.mit.edu	37	19	17476154	17476154	+	Missense_Mutation	SNP	G	G	C			TCGA-HW-A5KL-01A-11D-A27K-08	TCGA-HW-A5KL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6e34202-c506-416d-bc41-de772c33295e	31928eee-d7e5-4671-950d-0defa8244100	g.chr19:17476154G>C	ENST00000252590.4	-	3	1181	c.1120C>G	c.(1120-1122)Cag>Gag	p.Q374E		NM_031310.1	NP_112600.1	Q9BX97	PLVAP_HUMAN	plasmalemma vesicle associated protein	374						caveola|integral to membrane|perinuclear region of cytoplasm				cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						ATCCTGAGCTGCTCCGCCTCC	0.622													40	67					0	0	1	0	0	C	17476154	G	C	17476154	3	2	344	1	0	0	0	0	1	0	0	0	12164	1328	46	5	224	5	PLVAP	19	17476154	Missense_Mutation	SNP	G	TCGA-HW-A5KL-01A-11D-A27K-08		17476154	41652829	19	31285											
CYP2B6	1555	broad.mit.edu	37	19	41515236	41515236	+	Missense_Mutation	SNP	G	G	A			TCGA-HW-A5KL-01A-11D-A27K-08	TCGA-HW-A5KL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6e34202-c506-416d-bc41-de772c33295e	31928eee-d7e5-4671-950d-0defa8244100	g.chr19:41515236G>A	ENST00000324071.4	+	5	765	c.758G>A	c.(757-759)cGt>cAt	p.R253H	CYP2B6_ENST00000330446.5_Intron|CYP2B6_ENST00000593831.1_Intron	NM_000767.4	NP_000758.1	P20813	CP2B6_HUMAN	cytochrome P450, family 2, subfamily B, polypeptide 6	253					cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(20;0.00322)		Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361)	GAGAAGCACCGTGAAACCCTG	0.527													63	129					0	0	1	0	0	A	41515236	G	A	41515236	3	1	344	1	0	0	0	0	1	0	0	0	4187	1145	40	1	776	1	CYP2B6	19	41515236	Missense_Mutation	SNP	G	TCGA-HW-A5KL-01A-11D-A27K-08	24039082	41515236	17613747	20	31286											
TMEM143	55260	broad.mit.edu	37	19	48837278	48837278	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HW-A5KL-01A-11D-A27K-08	TCGA-HW-A5KL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6e34202-c506-416d-bc41-de772c33295e	31928eee-d7e5-4671-950d-0defa8244100	g.chr19:48837278delT	ENST00000293261.3	-	7	1468	c.1152delA	c.(1150-1152)caafs	p.Q384fs	TMEM143_ENST00000435956.3_Frame_Shift_Del_p.Q349fs|TMEM143_ENST00000436660.2_Frame_Shift_Del_p.Q319fs|TMEM143_ENST00000377431.2_Frame_Shift_Del_p.Q284fs|TMEM143_ENST00000541566.1_Frame_Shift_Del_p.Q274fs	NM_018273.2	NP_060743.2	Q96AN5	TM143_HUMAN	transmembrane protein 143	384						integral to membrane|mitochondrion				endometrium(2)|kidney(1)|large_intestine(2)|lung(9)	14		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000149)|all cancers(93;0.000198)|Epithelial(262;0.0151)|GBM - Glioblastoma multiforme(486;0.0157)		CGGGCGAGCCTTGAGTGCCCC	0.751											OREG0025605	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2	4	---	---	---	---						-	48837278	T	-	48837278	7	5	344	1	0	1	0	1	0	0	0	0	16117	1606	56	0	235	0	TMEM143	19	48837278	Frame_Shift_Del	DEL	T	TCGA-HW-A5KL-01A-11D-A27K-08	7322042	48837278	10291705	21	31287											
ERG	2078	broad.mit.edu	37	21	39755828	39755828	+	Missense_Mutation	SNP	G	G	A			TCGA-HW-A5KL-01A-11D-A27K-08	TCGA-HW-A5KL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6e34202-c506-416d-bc41-de772c33295e	31928eee-d7e5-4671-950d-0defa8244100	g.chr21:39755828G>A	ENST00000442448.1	-	11	1157	c.886C>T	c.(886-888)Ctt>Ttt	p.L296F	ERG_ENST00000453032.2_Missense_Mutation_p.L221F|ERG_ENST00000398897.1_Missense_Mutation_p.L197F|ERG_ENST00000398907.1_Missense_Mutation_p.L290F|ERG_ENST00000398911.1_Missense_Mutation_p.L296F|ERG_ENST00000288319.7_Missense_Mutation_p.L313F|ERG_ENST00000398919.2_Missense_Mutation_p.L320F|ERG_ENST00000398905.1_Missense_Mutation_p.L289F|ERG_ENST00000417133.2_Missense_Mutation_p.L320F|ERG_ENST00000398910.1_Missense_Mutation_p.L297F	NM_004449.4	NP_004440.1	P11308	ERG_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog	320					cell proliferation|multicellular organismal development|protein phosphorylation	cytoplasm|nucleus|ribonucleoprotein complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity		EWSR1/ERG(178)|NDRG1/ERG(5)|TMPRSS2/ERG(3582)|FUS/ERG(167)|SLC45A3/ERG(50)	lung(2)|ovary(1)|skin(1)	4		Prostate(19;3.6e-06)				AACTGCCAAAGCTGGATCTGG	0.572			T	"EWSR1, TMPRSS2, ELF4, FUS, HERPUD1, NDRG1"	"Ewing sarcoma, prostate, AML"								5	86					0	0	1	0	0	A	39755828	G	A	39755828	3	1	344	1	0	0	0	0	1	0	0	0	5250	971	34	2	506	2	ERG	21	39755828	Missense_Mutation	SNP	G	TCGA-HW-A5KL-01A-11D-A27K-08		39755828	8374067	22	31288											
EFHC2	80258	broad.mit.edu	37	X	44120532	44120532	+	Missense_Mutation	SNP	C	C	T			TCGA-HW-A5KL-01A-11D-A27K-08	TCGA-HW-A5KL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6e34202-c506-416d-bc41-de772c33295e	31928eee-d7e5-4671-950d-0defa8244100	g.chrX:44120532C>T	ENST00000420999.1	-	4	478	c.395G>A	c.(394-396)cGg>cAg	p.R132Q		NM_025184.3	NP_079460.2	Q5JST6	EFHC2_HUMAN	EF-hand domain (C-terminal) containing 2	132	DM10 1.						calcium ion binding			NS(1)|breast(7)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	29						CCGATGACGCCGGATAGAAGT	0.413													23	31					0	0	1	0	0	T	44120532	C	T	44120532	3	4	344	1	0	0	0	0	1	0	0	0	4973	652	23	1	1902	1	EFHC2	23	44120532	Missense_Mutation	SNP	C	TCGA-HW-A5KL-01A-11D-A27K-08		44120532	111150028	23	31289											
FAM120C	54954	broad.mit.edu	37	X	54209302	54209303	+	In_Frame_Ins	INS	-	-	GGCGGC			TCGA-HW-A5KL-01A-11D-A27K-08	TCGA-HW-A5KL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6e34202-c506-416d-bc41-de772c33295e	31928eee-d7e5-4671-950d-0defa8244100	g.chrX:54209302_54209303insGGCGGC	ENST00000375180.2	-	1	385_386	c.329_330insGCCGCC	c.(328-330)ccc>ccGCCGCCc	p.110_110P>PPP	FAM120C_ENST00000328235.4_In_Frame_Ins_p.110_110P>PPP|FAM120C_ENST00000477084.1_In_Frame_Ins_p.110_110P>PPP	NM_017848.4	NP_060318.3	Q9NX05	F120C_HUMAN	family with sequence similarity 120C	110										breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						GCAGCTGAGGGGGCGGCGGCGG	0.748													5	10	---	---	---	---						GGCGGC	54209303	-	GGCGGC	54209302	7	5	344	1	0	1	1	0	0	0	0	0	5449	1219	43	0	3046	0	FAM120C	23	54209302	In_Frame_Ins	INS	-	TCGA-HW-A5KL-01A-11D-A27K-08	10088770	54209302	101061258	24	31290											
ALAS2	212	broad.mit.edu	37	X	55052378	55052378	+	Missense_Mutation	SNP	G	G	A			TCGA-HW-A5KL-01A-11D-A27K-08	TCGA-HW-A5KL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6e34202-c506-416d-bc41-de772c33295e	31928eee-d7e5-4671-950d-0defa8244100	g.chrX:55052378G>A	ENST00000330807.5	-	2	193	c.56C>T	c.(55-57)aCa>aTa	p.T19I	ALAS2_ENST00000396198.3_Missense_Mutation_p.T43I|ALAS2_ENST00000335854.4_Missense_Mutation_p.T19I	NM_000032.4	NP_000023.2	P22557	HEM0_HUMAN	aminolevulinate, delta-, synthase 2	19					cellular iron ion homeostasis|erythrocyte differentiation|heme biosynthetic process|hemoglobin biosynthetic process|oxygen homeostasis|response to hypoxia	mitochondrial inner membrane|mitochondrial matrix	5-aminolevulinate synthase activity|coenzyme binding|glycine binding|protein binding|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)	17					Glycine(DB00145)	TAGGAGGCTTGTGGGGCCCCG	0.542													14	62					0	0	1	0	0	A	55052378	G	A	55052378	3	1	344	1	0	0	0	0	1	0	0	0	482	1377	48	2	1747	2	ALAS2	23	55052378	Missense_Mutation	SNP	G	TCGA-HW-A5KL-01A-11D-A27K-08	843076	55052378	100218182	25	31291											
UBQLN2	29978	broad.mit.edu	37	X	56590705	56590705	+	Silent	SNP	C	C	T			TCGA-HW-A5KL-01A-11D-A27K-08	TCGA-HW-A5KL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6e34202-c506-416d-bc41-de772c33295e	31928eee-d7e5-4671-950d-0defa8244100	g.chrX:56590705C>T	ENST00000338222.5	+	1	680	c.399C>T	c.(397-399)tcC>tcT	p.S133S		NM_013444.3	NP_038472.2	Q9UHD9	UBQL2_HUMAN	ubiquilin 2	133						cytoplasm|nucleus|plasma membrane	binding			breast(2)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)	21						GGAGTAACTCCACACCTATTT	0.572													7	56					0	0	1	0	0	T	56590705	C	T	56590705	2	4	344	1	0	0	0	0	0	0	0	1	16958	581	21	2		2	UBQLN2	23	56590705	Silent	SNP	C	TCGA-HW-A5KL-01A-11D-A27K-08	1538327	56590705	98679855	26	31292											
RLIM	51132	broad.mit.edu	37	X	73812199	73812200	+	Frame_Shift_Ins	INS	-	-	G	rs61752449		TCGA-HW-A5KL-01A-11D-A27K-08	TCGA-HW-A5KL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6e34202-c506-416d-bc41-de772c33295e	31928eee-d7e5-4671-950d-0defa8244100	g.chrX:73812199_73812200insG	ENST00000332687.6	-	4	1168_1169	c.950_951insC	c.(949-951)ccafs	p.P317fs	RLIM_ENST00000349225.2_Frame_Shift_Ins_p.P317fs	NM_016120.3	NP_057204.2	Q9NVW2	RNF12_HUMAN	ring finger protein, LIM domain interacting	317					random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|transcriptional repressor complex	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GGACTATGGTTGGAGGTCTCTG	0.48													30	34	---	---	---	---						G	73812200	-	G	73812199	7	5	344	1	0	1	1	0	0	0	0	0	13442	1799	63	0	927	0	RLIM	23	73812199	Frame_Shift_Ins	INS	-	TCGA-HW-A5KL-01A-11D-A27K-08	17221494	73812199	81458361	27	31293											
ATRX	546	broad.mit.edu	37	X	76939961	76939961	+	Missense_Mutation	SNP	A	A	G			TCGA-HW-A5KL-01A-11D-A27K-08	TCGA-HW-A5KL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6e34202-c506-416d-bc41-de772c33295e	31928eee-d7e5-4671-950d-0defa8244100	g.chrX:76939961A>G	ENST00000373344.5	-	9	1001	c.787T>C	c.(787-789)Tgg>Cgg	p.W263R	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.W225R	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	263	ADD.				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)	TAGCAATACCATTGGTTGTTT	0.393			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						111	98					0	0	1	0	0	G	76939961	A	G	76939961	3	3	344	1	0	0	0	0	1	0	0	0	1206	217	8	3	6799	3	ATRX	23	76939961	Missense_Mutation	SNP	A	TCGA-HW-A5KL-01A-11D-A27K-08	3127762	76939961	78330599	28	31294											
DCAF12L2	340578	broad.mit.edu	37	X	125299672	125299672	+	Missense_Mutation	SNP	G	G	A			TCGA-HW-A5KL-01A-11D-A27K-08	TCGA-HW-A5KL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6e34202-c506-416d-bc41-de772c33295e	31928eee-d7e5-4671-950d-0defa8244100	g.chrX:125299672G>A	ENST00000538699.1	-	2	316	c.236C>T	c.(235-237)gCc>gTc	p.A79V	DCAF12L2_ENST00000360028.2_Missense_Mutation_p.A79V	NM_001013628.2	NP_001013650.1	Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	79										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						CCTCTGGACGGCGTAGCCCCG	0.706													27	56					0	0	1	0	0	A	125299672	G	A	125299672	3	1	344	1	0	0	0	0	1	0	0	0	4289	1203	42	2	1159	2	DCAF12L2	23	125299672	Missense_Mutation	SNP	G	TCGA-HW-A5KL-01A-11D-A27K-08	48359711	125299672	29970888	29	31295											
SPANXD	64648	broad.mit.edu	37	X	140785839	140785839	+	Missense_Mutation	SNP	G	G	A			TCGA-HW-A5KL-01A-11D-A27K-08	TCGA-HW-A5KL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6e34202-c506-416d-bc41-de772c33295e	31928eee-d7e5-4671-950d-0defa8244100	g.chrX:140785839G>A	ENST00000370515.3	-	2	410	c.77C>T	c.(76-78)cCg>cTg	p.P26L		NM_032417.2|NM_145665.1	NP_115793.1|NP_663698.1			SPANX family, member D											breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	9	Acute lymphoblastic leukemia(192;7.65e-05)					CGAGGTCTCCGGCATCTGTTA	0.493													7	165					0	0	1	0	0	A	140785839	G	A	140785839	3	1	344	1	0	0	0	0	1	0	0	0	15044	1116	39	1	220	1	SPANXD	23	140785839	Missense_Mutation	SNP	G	TCGA-HW-A5KL-01A-11D-A27K-08	15486167	140785839	14484721	30	31296											
PLXNB3	5365	broad.mit.edu	37	X	153039467	153039467	+	Missense_Mutation	SNP	C	C	A			TCGA-HW-A5KL-01A-11D-A27K-08	TCGA-HW-A5KL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6e34202-c506-416d-bc41-de772c33295e	31928eee-d7e5-4671-950d-0defa8244100	g.chrX:153039467C>A	ENST00000538966.1	+	21	3773	c.3502C>A	c.(3502-3504)Cag>Aag	p.Q1168K	PLXNB3_ENST00000361971.5_Missense_Mutation_p.Q1145K|PLXNB3_ENST00000538282.1_Missense_Mutation_p.Q755K|PLXNB3_ENST00000538776.1_Missense_Mutation_p.Q798K	NM_001163257.1	NP_001156729.1	Q9ULL4	PLXB3_HUMAN	plexin B3	1145	IPT/TIG 4.				axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity			central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					CTTCCTGTACCAGCCCAACCC	0.672													29	64					9.39395e-14	9.67024e-14	1	1	0	A	153039467	C	A	153039467	3	1	344	1	0	0	0	0	1	0	0	0	12173	595	21	5	3625	5	PLXNB3	23	153039467	Missense_Mutation	SNP	C	TCGA-HW-A5KL-01A-11D-A27K-08	12253628	153039467	2231093	31	31297											
SYCP1	6847	broad.mit.edu	37	1	115453058	115453058	+	Missense_Mutation	SNP	A	A	G			TCGA-HW-A5KM-01A-11D-A27K-08	TCGA-HW-A5KM-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	326e0c99-d749-4f8f-8edd-1d0a5c82e07e	c9aec61a-d7df-402c-9734-1e35cd5f6c43	g.chr1:115453058A>G	ENST00000369522.3	+	17	1601	c.1361A>G	c.(1360-1362)gAg>gGg	p.E454G	SYCP1_ENST00000369518.1_Missense_Mutation_p.E454G	NM_001282541.1|NM_003176.2	NP_001269470.1|NP_003167.2	Q15431	SYCP1_HUMAN	synaptonemal complex protein 1	454					cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding		RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		AAACAATTTGAGAAGATTGCT	0.284													25	47					0	0	1	0	0	G	115453058	A	G	115453058	3	3	345	1	0	0	0	0	1	0	0	0	15488	304	11	3	1423	3	SYCP1	1	115453058	Missense_Mutation	SNP	A	TCGA-HW-A5KM-01A-11D-A27K-08		115453058	133797563	1	31298											
TADA1	117143	broad.mit.edu	37	1	166831463	166831463	+	Missense_Mutation	SNP	A	A	C			TCGA-HW-A5KM-01A-11D-A27K-08	TCGA-HW-A5KM-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	326e0c99-d749-4f8f-8edd-1d0a5c82e07e	c9aec61a-d7df-402c-9734-1e35cd5f6c43	g.chr1:166831463A>C	ENST00000367874.4	-	5	610	c.517T>G	c.(517-519)Tca>Gca	p.S173A	TADA1_ENST00000467021.1_5'UTR	NM_053053.3	NP_444281.1	Q96BN2	TADA1_HUMAN	transcriptional adaptor 1	173					histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)	11						ACAACAGCTGAAACAGCCTCC	0.468													40	83					0	0	1	0	0	C	166831463	A	C	166831463	3	2	345	1	0	0	0	0	1	0	0	0	15566	246	9	5	506	5	TADA1	1	166831463	Missense_Mutation	SNP	A	TCGA-HW-A5KM-01A-11D-A27K-08	51378405	166831463	82419158	2	31299											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-HW-A5KM-01A-11D-A27K-08	TCGA-HW-A5KM-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	326e0c99-d749-4f8f-8edd-1d0a5c82e07e	c9aec61a-d7df-402c-9734-1e35cd5f6c43	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	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								17	31					0	0	1	0	0	T	209113112	C	T	209113112	3	4	345	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HW-A5KM-01A-11D-A27K-08		209113112	34086261	3	31300											
TIGIT	201633	broad.mit.edu	37	3	114014405	114014405	+	Silent	SNP	C	C	G			TCGA-HW-A5KM-01A-11D-A27K-08	TCGA-HW-A5KM-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	326e0c99-d749-4f8f-8edd-1d0a5c82e07e	c9aec61a-d7df-402c-9734-1e35cd5f6c43	g.chr3:114014405C>G	ENST00000481065.1	+	3	2891	c.276C>G	c.(274-276)ggC>ggG	p.G92G	TIGIT_ENST00000383671.3_Silent_p.G25G|TIGIT_ENST00000486257.1_Silent_p.G25G			Q495A1	TIGIT_HUMAN	T cell immunoreceptor with Ig and ITIM domains	25	Ig-like V-type.				negative regulation of interleukin-12 production|negative regulation of T cell activation|positive regulation of interleukin-10 production	cell surface|integral to membrane|plasma membrane	protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|prostate(1)	17						TGATGACAGGCACAATAGAAA	0.502													81	188					0	0	1	0	0	G	114014405	C	G	114014405	2	3	345	1	0	0	0	0	0	0	0	1	15962	697	25	5		5	TIGIT	3	114014405	Silent	SNP	C	TCGA-HW-A5KM-01A-11D-A27K-08		114014405	84008025	4	31301											
ENPEP	2028	broad.mit.edu	37	4	111464025	111464025	+	Silent	SNP	G	G	A			TCGA-HW-A5KM-01A-11D-A27K-08	TCGA-HW-A5KM-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	326e0c99-d749-4f8f-8edd-1d0a5c82e07e	c9aec61a-d7df-402c-9734-1e35cd5f6c43	g.chr4:111464025G>A	ENST00000265162.5	+	12	2268	c.1926G>A	c.(1924-1926)gcG>gcA	p.A642A		NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	642					cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)	TAGCTACAGCGCTCTCCTTGA	0.343													8	84					0	0	1	0	0	A	111464025	G	A	111464025	2	1	345	1	0	0	0	0	0	0	0	1	5156	1074	38	1		1	ENPEP	4	111464025	Silent	SNP	G	TCGA-HW-A5KM-01A-11D-A27K-08		111464025	79690251	5	31302											
LAMB4	22798	broad.mit.edu	37	7	107692592	107692592	+	Missense_Mutation	SNP	A	A	G			TCGA-HW-A5KM-01A-11D-A27K-08	TCGA-HW-A5KM-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	326e0c99-d749-4f8f-8edd-1d0a5c82e07e	c9aec61a-d7df-402c-9734-1e35cd5f6c43	g.chr7:107692592A>G	ENST00000388781.3	-	26	3949	c.3866T>C	c.(3865-3867)cTt>cCt	p.L1289P	LAMB4_ENST00000388780.3_Missense_Mutation_p.L1289P|LAMB4_ENST00000205386.4_Missense_Mutation_p.L1289P	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	1289	Domain II.				cell adhesion	basement membrane				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						TTCTTCCTGAAGGTCTTCAAG	0.363													47	81					0	0	1	0	0	G	107692592	A	G	107692592	3	3	345	1	0	0	0	0	1	0	0	0	8652	72	3	3	1455	3	LAMB4	7	107692592	Missense_Mutation	SNP	A	TCGA-HW-A5KM-01A-11D-A27K-08		107692592	51446071	6	31303											
IFRD1	3475	broad.mit.edu	37	7	112112895	112112897	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-HW-A5KM-01A-11D-A27K-08	TCGA-HW-A5KM-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	326e0c99-d749-4f8f-8edd-1d0a5c82e07e	c9aec61a-d7df-402c-9734-1e35cd5f6c43	g.chr7:112112895_112112897delGAA	ENST00000403825.3	+	11	1506_1508	c.1245_1247delGAA	c.(1243-1248)atgaag>atg	p.K416del	IFRD1_ENST00000535603.1_In_Frame_Del_p.K366del|IFRD1_ENST00000005558.4_In_Frame_Del_p.K416del	NM_001550.3	NP_001541.2	O00458	IFRD1_HUMAN	interferon-related developmental regulator 1	416					multicellular organismal development|myoblast cell fate determination		binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|urinary_tract(1)	15						TTAAAACGATGAAGATTTCTCGT	0.374													24	80	---	---	---	---						-	112112897	GAA	-	112112895	7	5	345	1	0	1	0	1	0	0	0	0	7597	1290	45	0	1287	0	IFRD1	7	112112895	In_Frame_Del	DEL	GAA	TCGA-HW-A5KM-01A-11D-A27K-08	4420303	112112895	47025768	7	31304											
ZNF169	169841	broad.mit.edu	37	9	97063233	97063233	+	Missense_Mutation	SNP	C	C	T			TCGA-HW-A5KM-01A-11D-A27K-08	TCGA-HW-A5KM-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	326e0c99-d749-4f8f-8edd-1d0a5c82e07e	c9aec61a-d7df-402c-9734-1e35cd5f6c43	g.chr9:97063233C>T	ENST00000395395.2	+	5	1483	c.1393C>T	c.(1393-1395)Cgt>Tgt	p.R465C	ZNF169_ENST00000340911.4_3'UTR	NM_194320.2	NP_919301.2	Q14929	ZN169_HUMAN	zinc finger protein 169	465						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	24		Acute lymphoblastic leukemia(62;0.136)				TGATTGTGGGCGTGGCTTTGG	0.577													35	63					0	0	1	0	0	T	97063233	C	T	97063233	3	4	345	1	0	0	0	0	1	0	0	0	17800	768	27	1	1407	1	ZNF169	9	97063233	Missense_Mutation	SNP	C	TCGA-HW-A5KM-01A-11D-A27K-08		97063233	44150198	8	31305											
SLC6A5	9152	broad.mit.edu	37	11	20628628	20628628	+	Missense_Mutation	SNP	G	G	A			TCGA-HW-A5KM-01A-11D-A27K-08	TCGA-HW-A5KM-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	326e0c99-d749-4f8f-8edd-1d0a5c82e07e	c9aec61a-d7df-402c-9734-1e35cd5f6c43	g.chr11:20628628G>A	ENST00000525748.1	+	4	1028	c.755G>A	c.(754-756)gGc>gAc	p.G252D		NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 5	252					synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	GTGTCGCTGGGCCAGTTTGCC	0.567													26	52					0	0	1	0	0	A	20628628	G	A	20628628	3	1	345	1	0	0	0	0	1	0	0	0	14742	1203	42	2	769	2	SLC6A5	11	20628628	Missense_Mutation	SNP	G	TCGA-HW-A5KM-01A-11D-A27K-08		20628628	114377888	9	31306											
TPTE2	93492	broad.mit.edu	37	13	20077367	20077367	+	Missense_Mutation	SNP	T	T	C			TCGA-HW-A5KM-01A-11D-A27K-08	TCGA-HW-A5KM-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	326e0c99-d749-4f8f-8edd-1d0a5c82e07e	c9aec61a-d7df-402c-9734-1e35cd5f6c43	g.chr13:20077367T>C	ENST00000400230.2	-	1	52	c.8A>G	c.(7-9)gAa>gGa	p.E3G	TPTE2_ENST00000382975.4_Missense_Mutation_p.E3G|TPTE2_ENST00000382977.4_Missense_Mutation_p.E3G|TPTE2_ENST00000457266.2_Missense_Mutation_p.E3G|TPTE2_ENST00000382978.1_Missense_Mutation_p.E3G|TPTE2_ENST00000400103.2_Missense_Mutation_p.E3G|TPTE2_ENST00000255310.6_Missense_Mutation_p.E3G|TPTE2_ENST00000390680.2_Missense_Mutation_p.E3G			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	3						endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		AACTCACCTTTCATTCATACG	0.368													3	31					0	0	1	0	0	C	20077367	T	C	20077367	3	2	345	1	0	0	0	0	1	0	0	0	16492	1783	62	3	1640	3	TPTE2	13	20077367	Missense_Mutation	SNP	T	TCGA-HW-A5KM-01A-11D-A27K-08		20077367	95092511	10	31307											
ABCC4	10257	broad.mit.edu	37	13	95840746	95840746	+	Silent	SNP	G	G	A	rs150945397		TCGA-HW-A5KM-01A-11D-A27K-08	TCGA-HW-A5KM-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	326e0c99-d749-4f8f-8edd-1d0a5c82e07e	c9aec61a-d7df-402c-9734-1e35cd5f6c43	g.chr13:95840746G>A	ENST00000376887.4	-	10	1428	c.1314C>T	c.(1312-1314)ggC>ggT	p.G438G	ABCC4_ENST00000431522.1_Silent_p.G438G|ABCC4_ENST00000538287.1_3'UTR|ABCC4_ENST00000412704.1_Silent_p.G438G|ABCC4_ENST00000536256.1_Silent_p.G363G	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 4	438	ABC transporter 1.				platelet activation|platelet degranulation	integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Cefazolin(DB01327)	CTAACAATTCGCCAGGTCTGA	0.453													50	92					0	0	1	0	0	A	95840746	G	A	95840746	2	1	345	1	0	0	0	0	0	0	0	1	55	1074	38	1		1	ABCC4	13	95840746	Silent	SNP	G	TCGA-HW-A5KM-01A-11D-A27K-08	75763379	95840746	19329132	11	31308											
ATP10A	57194	broad.mit.edu	37	15	25963417	25963417	+	Missense_Mutation	SNP	C	C	G			TCGA-HW-A5KM-01A-11D-A27K-08	TCGA-HW-A5KM-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	326e0c99-d749-4f8f-8edd-1d0a5c82e07e	c9aec61a-d7df-402c-9734-1e35cd5f6c43	g.chr15:25963417C>G	ENST00000356865.6	-	8	1604	c.1493G>C	c.(1492-1494)aGc>aCc	p.S498T		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	498					ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		GGACTTGGTGCTCTGGGTTCT	0.687													28	40					0	0	1	0	0	G	25963417	C	G	25963417	3	3	345	1	0	0	0	0	1	0	0	0	1115	797	28	4	3062	4	ATP10A	15	25963417	Missense_Mutation	SNP	C	TCGA-HW-A5KM-01A-11D-A27K-08		25963417	76567975	12	31309											
TP53	7157	broad.mit.edu	37	17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	rs121913343		TCGA-HW-A5KM-01A-11D-A27K-08	TCGA-HW-A5KM-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	326e0c99-d749-4f8f-8edd-1d0a5c82e07e	c9aec61a-d7df-402c-9734-1e35cd5f6c43	g.chr17:7577121G>A	ENST00000420246.2	-	8	949	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000269305.4_Missense_Mutation_p.R273C|TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.R273C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	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).		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.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			33	11					0	0	1	0	0	A	7577121	G	A	7577121	3	1	345	1	0	0	0	0	1	0	0	0	16442	1087	38	1	469	1	TP53	17	7577121	Missense_Mutation	SNP	G	TCGA-HW-A5KM-01A-11D-A27K-08		7577121	73618089	13	31310											
TBC1D3B	414059	broad.mit.edu	37	17	34499227	34499227	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HW-A5KM-01A-11D-A27K-08	TCGA-HW-A5KM-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	326e0c99-d749-4f8f-8edd-1d0a5c82e07e	c9aec61a-d7df-402c-9734-1e35cd5f6c43	g.chr17:34499227G>A	ENST00000454519.3	-	7	633	c.484C>T	c.(484-486)Cga>Tga	p.R162*	CTB-91J4.1_ENST00000592460.1_RNA|TBC1D3B_ENST00000398801.3_Nonsense_Mutation_p.R162*	NM_001001417.5	NP_001001417.5	A6NDS4	TBC3B_HUMAN	TBC1 domain family, member 3B	162	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			endometrium(2)|lung(3)|pancreas(1)	6		Breast(25;0.102)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GTTCCGTATCGATCCCTGAAG	0.562													100	748					0	0	1	0	0	A	34499227	G	A	34499227	4	1	345	1	0	0	0	0	0	1	0	0	15678	1066	37	1	1197	1	TBC1D3B	17	34499227	Nonsense_Mutation	SNP	G	TCGA-HW-A5KM-01A-11D-A27K-08	26922106	34499227	46695983	14	31311											
FMNL1	752	broad.mit.edu	37	17	43323638	43323640	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-HW-A5KM-01A-11D-A27K-08	TCGA-HW-A5KM-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	326e0c99-d749-4f8f-8edd-1d0a5c82e07e	c9aec61a-d7df-402c-9734-1e35cd5f6c43	g.chr17:43323638_43323640delAGA	ENST00000331495.3	+	25	3488_3490	c.3152_3154delAGA	c.(3151-3156)cagaag>cag	p.K1052del	FMNL1_ENST00000587489.1_In_Frame_Del_p.K630del|FMNL1_ENST00000328118.3_In_Frame_Del_p.K1052del|CTD-2020K17.4_ENST00000420431.2_RNA	NM_005892.3	NP_005883	O95466	FMNL_HUMAN	formin-like 1	1052					actin cytoskeleton organization		actin binding|Rho GTPase binding			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(12)|pancreas(1)|skin(1)|urinary_tract(2)	33						CGGAGGCAGCAGAAGGAGCCACT	0.567													64	127	---	---	---	---						-	43323640	AGA	-	43323638	7	5	345	1	0	1	0	1	0	0	0	0	5984	188	7	0	3250	0	FMNL1	17	43323638	In_Frame_Del	DEL	AGA	TCGA-HW-A5KM-01A-11D-A27K-08	8824411	43323638	37871572	15	31312											
FIZ1	84922	broad.mit.edu	37	19	56109002	56109002	+	Missense_Mutation	SNP	C	C	T			TCGA-HW-A5KM-01A-11D-A27K-08	TCGA-HW-A5KM-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	326e0c99-d749-4f8f-8edd-1d0a5c82e07e	c9aec61a-d7df-402c-9734-1e35cd5f6c43	g.chr19:56109002C>T	ENST00000221665.3	-	2	319	c.230G>A	c.(229-231)cGg>cAg	p.R77Q	FIZ1_ENST00000592585.1_Intron	NM_032836.2	NP_116225.2	Q96SL8	FIZ1_HUMAN	FLT3-interacting zinc finger 1	77					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein kinase binding|receptor binding|zinc ion binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)	11			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)		GCGGTAGGGCCGCTCCCCGGT	0.692													41	51					0	0	1	0	0	T	56109002	C	T	56109002	3	4	345	1	0	0	0	0	1	0	0	0	5933	652	23	1	1268	1	FIZ1	19	56109002	Missense_Mutation	SNP	C	TCGA-HW-A5KM-01A-11D-A27K-08		56109002	3019981	16	31313											
TPTE	7179	broad.mit.edu	37	21	10973726	10973726	+	Missense_Mutation	SNP	T	T	C			TCGA-HW-A5KM-01A-11D-A27K-08	TCGA-HW-A5KM-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	326e0c99-d749-4f8f-8edd-1d0a5c82e07e	c9aec61a-d7df-402c-9734-1e35cd5f6c43	g.chr21:10973726T>C	ENST00000298232.7	-	4	375	c.8A>G	c.(7-9)gAa>gGa	p.E3G	TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000361285.4_Missense_Mutation_p.E3G|TPTE_ENST00000342420.5_Missense_Mutation_p.E3G	NM_199259.2	NP_954868	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	3					signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			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)		AACTCACCTTTCATTCATACG	0.378													20	79					0	0	1	0	0	C	10973726	T	C	10973726	3	2	345	1	0	0	0	0	1	0	0	0	16491	1783	62	3	1731	3	TPTE	21	10973726	Missense_Mutation	SNP	T	TCGA-HW-A5KM-01A-11D-A27K-08		10973726	37156169	17	31314											
ATRX	546	broad.mit.edu	37	X	76937664	76937697	+	Frame_Shift_Del	DEL	AAAATGACAAATTTCTTCTCGCTCAGGTAACTTT	AAAATGACAAATTTCTTCTCGCTCAGGTAACTTT	-			TCGA-HW-A5KM-01A-11D-A27K-08	TCGA-HW-A5KM-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	326e0c99-d749-4f8f-8edd-1d0a5c82e07e	c9aec61a-d7df-402c-9734-1e35cd5f6c43	g.chrX:76937664_76937697delAAAATGACAAATTTCTTCTCGCTCAGGTAACTTT	ENST00000373344.5	-	9	3265_3298	c.3051_3084delAAAGTTACCTGAGCGAGAAGAAATTTGTCATTTT	c.(3049-3084)gaaaagttacctgagcgagaagaaatttgtcattttfs	p.EKLPEREEICHF1017fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.EKLPEREEICHF979fs	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1017					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)	TGCCCTTAGGAAAATGACAAATTTCTTCTCGCTCAGGTAACTTTTCAGTGCCAT	0.303			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						7	10	---	---	---	---						-	76937697	AAAATGACAAATTTCTTCTCGCTCAGGTAACTTT	-	76937664	7	5	345	1	0	1	0	1	0	0	0	0	1206	243	9	0	4502	0	ATRX	23	76937664	Frame_Shift_Del	DEL	AAAATGACAAATTTCTTCTCGCTCAGGTAACTTT	TCGA-HW-A5KM-01A-11D-A27K-08		76937664	78332896	18	31315											
NOTCH2	4853	broad.mit.edu	37	1	120468319	120468319	+	Missense_Mutation	SNP	A	A	T			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr1:120468319A>T	ENST00000256646.2	-	25	4339	c.4120T>A	c.(4120-4122)Tgc>Agc	p.C1374S		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	1374	EGF-like 35.				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)		CCTGACTCGCAGTCCCGGGGA	0.642			"N, F, Mis"		"marginal zone lymphoma, DLBCL"				Alagille Syndrome				22	18					0	0	1	0	0	T	120468319	A	T	120468319	3	4	346	1	0	0	0	0	1	0	0	0	10595	188	7	5	3335	5	NOTCH2	1	120468319	Missense_Mutation	SNP	A	TCGA-IK-7675-01A-11D-2086-08		120468319	128782302	1	31316											
SFT2D2	375035	broad.mit.edu	37	1	168205989	168205989	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr1:168205989C>T	ENST00000271375.4	+	6	466	c.394C>T	c.(394-396)Cag>Tag	p.Q132*	SFT2D2_ENST00000367825.3_Silent_p.C104C|SFT2D2_ENST00000471981.1_3'UTR|SFT2D2_ENST00000367829.1_Silent_p.C104C	NM_199344.2	NP_955376.1	O95562	SFT2B_HUMAN	SFT2 domain containing 2						protein transport|vesicle-mediated transport	integral to membrane				lung(3)|skin(1)	4	all_hematologic(923;0.215)					CTGCATTTTGCAGTCTTTGGC	0.403													112	148					0	0	1	0	0	T	168205989	C	T	168205989	4	4	346	1	0	0	0	0	0	1	0	0	14240	711	25	2	416	2	SFT2D2	1	168205989	Nonsense_Mutation	SNP	C	TCGA-IK-7675-01A-11D-2086-08	47737670	168205989	81044632	2	31317											
TPR	7175	broad.mit.edu	37	1	186292829	186292829	+	Missense_Mutation	SNP	G	G	A			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr1:186292829G>A	ENST00000367478.4	-	43	6582	c.6286C>T	c.(6286-6288)Cca>Tca	p.P2096S		NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein						carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity			autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		TGAACTGGTGGTCCCAACTCC	0.463			T	NTRK1	papillary thyroid								80	133					0	0	1	0	0	A	186292829	G	A	186292829	3	1	346	1	0	0	0	0	1	0	0	0	16477	1261	44	2	841	2	TPR	1	186292829	Missense_Mutation	SNP	G	TCGA-IK-7675-01A-11D-2086-08	18086840	186292829	62957792	3	31318											
SPATA17	128153	broad.mit.edu	37	1	217915355	217915355	+	Missense_Mutation	SNP	A	A	G			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr1:217915355A>G	ENST00000366933.4	+	6	489	c.434A>G	c.(433-435)gAa>gGa	p.E145G		NM_138796.2	NP_620151.1	Q96L03	SPT17_HUMAN	spermatogenesis associated 17	145						cytoplasm	calmodulin binding			endometrium(1)|kidney(1)|large_intestine(9)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(81;0.0516)|all cancers(67;0.0891)|GBM - Glioblastoma multiforme(131;0.117)		AAAGAAAGAGAAGAGAAGAAG	0.403													32	28					0	0	1	0	0	G	217915355	A	G	217915355	3	3	346	1	0	0	0	0	1	0	0	0	15058	246	9	3	456	3	SPATA17	1	217915355	Missense_Mutation	SNP	A	TCGA-IK-7675-01A-11D-2086-08	31622526	217915355	31335266	4	31319											
TRIM58	25893	broad.mit.edu	37	1	248039522	248039522	+	Missense_Mutation	SNP	C	C	T			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr1:248039522C>T	ENST00000366481.3	+	6	1240	c.1192C>T	c.(1192-1194)Cca>Tca	p.P398S	OR2W3_ENST00000537741.1_Intron	NM_015431.3	NP_056246.3	Q8NG06	TRI58_HUMAN	tripartite motif containing 58	398	B30.2/SPRY.					intracellular	zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			CCTTGCCTCCCCATCAGTGCC	0.512													24	165					0	0	1	0	0	T	248039522	C	T	248039522	3	4	346	1	0	0	0	0	1	0	0	0	16592	623	22	2	1214	2	TRIM58	1	248039522	Missense_Mutation	SNP	C	TCGA-IK-7675-01A-11D-2086-08	30124167	248039522	1211099	5	31320											
OR2L2	26246	broad.mit.edu	37	1	248202456	248202456	+	Missense_Mutation	SNP	T	T	C			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr1:248202456T>C	ENST00000366479.2	+	1	983	c.887T>C	c.(886-888)gTg>gCg	p.V296A	OR2L13_ENST00000366478.2_Intron	NM_001004686.2	NP_001004686.1	Q8NH16	OR2L2_HUMAN	olfactory receptor, family 2, subfamily L, member 2	296					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1)	42	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			AACAAGGAGGTGATGGGGGCC	0.463													60	73					0	0	1	0	0	C	248202456	T	C	248202456	3	2	346	1	0	0	0	0	1	0	0	0	11055	1696	59	3	889	3	OR2L2	1	248202456	Missense_Mutation	SNP	T	TCGA-IK-7675-01A-11D-2086-08	162934	248202456	1048165	6	31321											
COL5A2	1290	broad.mit.edu	37	2	189933563	189933563	+	Silent	SNP	C	C	T			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr2:189933563C>T	ENST00000374866.3	-	19	1480	c.1206G>A	c.(1204-1206)ggG>ggA	p.G402G		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	402					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			CACCTCTCTGCCCCTGAGGAC	0.502													17	26					0	0	1	0	0	T	189933563	C	T	189933563	2	4	346	1	0	0	0	0	0	0	0	1	3720	726	26	2		2	COL5A2	2	189933563	Silent	SNP	C	TCGA-IK-7675-01A-11D-2086-08		189933563	53265810	7	31322											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								54	52					0	0	1	0	0	T	209113112	C	T	209113112	3	4	346	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-IK-7675-01A-11D-2086-08	19179549	209113112	34086261	8	31323											
IRS1	3667	broad.mit.edu	37	2	227661149	227661149	+	Missense_Mutation	SNP	C	C	T			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr2:227661149C>T	ENST00000305123.5	-	1	3326	c.2306G>A	c.(2305-2307)aGa>aAa	p.R769K		NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1						fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		CTTAAAGGATCTTGGCAATGA	0.627													142	173					0	0	1	0	0	T	227661149	C	T	227661149	3	4	346	1	0	0	0	0	1	0	0	0	7884	913	32	2	1426	2	IRS1	2	227661149	Missense_Mutation	SNP	C	TCGA-IK-7675-01A-11D-2086-08	18548037	227661149	15538224	9	31324											
SCN10A	6336	broad.mit.edu	37	3	38768259	38768259	+	Silent	SNP	T	T	C			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr3:38768259T>C	ENST00000449082.2	-	16	2924	c.2925A>G	c.(2923-2925)caA>caG	p.Q975Q		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	975					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	CTCTGGGAGCTTGGAGCCCTC	0.577													27	34					0	0	1	0	0	C	38768259	T	C	38768259	2	2	346	1	0	0	0	0	0	0	0	1	13966	1606	56	3		3	SCN10A	3	38768259	Silent	SNP	T	TCGA-IK-7675-01A-11D-2086-08		38768259	159254171	10	31325											
FGFRL1	53834	broad.mit.edu	37	4	1018108	1018108	+	Missense_Mutation	SNP	G	G	A			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr4:1018108G>A	ENST00000398484.2	+	7	1308	c.728G>A	c.(727-729)cGt>cAt	p.R243H	FGFRL1_ENST00000510644.1_Missense_Mutation_p.R243H|FGFRL1_ENST00000264748.6_Missense_Mutation_p.R243H|FGFRL1_ENST00000504138.1_Missense_Mutation_p.R243H			Q8N441	FGRL1_HUMAN	fibroblast growth factor receptor-like 1	243					regulation of cell growth	integral to membrane|plasma membrane	fibroblast growth factor receptor activity|heparin binding	p.R213L(2)|p.R243L(2)		endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	13			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			GAGCGGACCCGTTCCAAGCCC	0.711													36	46					0	0	1	0	0	A	1018108	G	A	1018108	3	1	346	1	0	0	0	0	1	0	0	0	5902	1145	40	1	746	1	FGFRL1	4	1018108	Missense_Mutation	SNP	G	TCGA-IK-7675-01A-11D-2086-08		1018108	190136168	11	31326											
EVC2	132884	broad.mit.edu	37	4	5586352	5586352	+	Missense_Mutation	SNP	G	G	A	rs139610006		TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr4:5586352G>A	ENST00000310917.2	-	17	3546	c.2815C>T	c.(2815-2817)Cgg>Tgg	p.R939W	EVC2_ENST00000344938.1_Missense_Mutation_p.R1019W|EVC2_ENST00000344408.5_Missense_Mutation_p.R1019W	NM_001166136.1	NP_001159608.1	Q86UK5	LBN_HUMAN	Ellis van Creveld syndrome 2	1019						integral to membrane				NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						GCACTCACCCGGCTGTGCGAC	0.602													11	10					0	0	1	0	0	A	5586352	G	A	5586352	3	1	346	1	0	0	0	0	1	0	0	0	5314	1115	39	1	895	1	EVC2	4	5586352	Missense_Mutation	SNP	G	TCGA-IK-7675-01A-11D-2086-08	4568244	5586352	185567924	12	31327											
AFP	174	broad.mit.edu	37	4	74316388	74316388	+	Missense_Mutation	SNP	C	C	T			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr4:74316388C>T	ENST00000395792.2	+	11	1446	c.1346C>T	c.(1345-1347)gCc>gTc	p.A449V	AFP_ENST00000226359.2_Missense_Mutation_p.A449V	NM_001134.1	NP_001125.1	P02771	FETA_HUMAN	alpha-fetoprotein	449	Albumin 3.				transport		metal ion binding			breast(1)|endometrium(2)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|urinary_tract(1)	22	Breast(15;0.00102)		Epithelial(6;2.42e-05)|all cancers(17;0.000268)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GAGCTGATGGCCATCACCAGA	0.507									Alpha-Fetoprotein, Hereditary Persistence of				37	40					0	0	1	0	0	T	74316388	C	T	74316388	3	4	346	1	0	0	0	0	1	0	0	0	362	739	26	2	1388	2	AFP	4	74316388	Missense_Mutation	SNP	C	TCGA-IK-7675-01A-11D-2086-08	68730036	74316388	116837888	13	31328											
HLA-DOA	3111	broad.mit.edu	37	6	32974943	32974943	+	Silent	SNP	A	A	G			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr6:32974943A>G	ENST00000229829.5	-	4	738	c.663T>C	c.(661-663)tgT>tgC	p.C221C	HLA-DOA_ENST00000450833.2_Intron	NM_002119.3	NP_002110.1	P06340	DOA_HUMAN	major histocompatibility complex, class II, DO alpha	221					antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endosome membrane|integral to membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity			NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1)	9						GGCCCAGGGCACAGACCAGGG	0.577													43	71					0	0	1	0	0	G	32974943	A	G	32974943	2	3	346	1	0	0	0	0	0	0	0	1	7241	157	6	3		3	HLA-DOA	6	32974943	Silent	SNP	A	TCGA-IK-7675-01A-11D-2086-08		32974943	138140124	14	31329											
PKHD1	5314	broad.mit.edu	37	6	51892645	51892645	+	Missense_Mutation	SNP	A	A	G			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr6:51892645A>G	ENST00000371117.3	-	31	3885	c.3610T>C	c.(3610-3612)Tgc>Cgc	p.C1204R	PKHD1_ENST00000340994.4_Missense_Mutation_p.C1204R	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	1204	IPT/TIG 7.		C -> Y.		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)					GACCCACAGCAAGGCTCGATG	0.413													30	52					0	0	1	0	0	G	51892645	A	G	51892645	3	3	346	1	0	0	0	0	1	0	0	0	12019	130	5	3	8801	3	PKHD1	6	51892645	Missense_Mutation	SNP	A	TCGA-IK-7675-01A-11D-2086-08	18917702	51892645	119222422	15	31330											
TWISTNB	221830	broad.mit.edu	37	7	19738111	19738113	+	In_Frame_Del	DEL	TTC	TTC	-			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr7:19738111_19738113delTTC	ENST00000222567.5	-	4	913_915	c.843_845delGAA	c.(841-846)aagaaa>aaa	p.281_282KK>K		NM_001002926.1	NP_001002926.1	Q3B726	RPA43_HUMAN	TWIST neighbor	281	Lys-rich.					microtubule cytoskeleton|nucleolus	DNA-directed RNA polymerase activity			kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	20						CTGGTGCTTTTTCTTCTTCTTCT	0.433													7	504	---	---	---	---						-	19738113	TTC	-	19738111	7	5	346	1	0	1	0	1	0	0	0	0	16846	1841	64	0	175	0	TWISTNB	7	19738111	In_Frame_Del	DEL	TTC	TCGA-IK-7675-01A-11D-2086-08		19738111	139400552	16	31331											
WBSCR17	64409	broad.mit.edu	37	7	71135022	71135022	+	Missense_Mutation	SNP	G	G	C			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr7:71135022G>C	ENST00000333538.5	+	8	1966	c.1332G>C	c.(1330-1332)aaG>aaC	p.K444N	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	444						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)				TAAAGTGTAAGAATTTCCAGT	0.438													67	110					0	0	1	0	0	C	71135022	G	C	71135022	3	2	346	1	0	0	0	0	1	0	0	0	17324	933	33	4	1362	4	WBSCR17	7	71135022	Missense_Mutation	SNP	G	TCGA-IK-7675-01A-11D-2086-08	51396911	71135022	88003641	17	31332											
ADAM28	10863	broad.mit.edu	37	8	24151678	24151678	+	Missense_Mutation	SNP	C	C	G			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr8:24151678C>G	ENST00000265769.4	+	1	126	c.16C>G	c.(16-18)Ctg>Gtg	p.L6V	ADAM28_ENST00000437154.2_Missense_Mutation_p.L6V|ADAM28_ENST00000397649.3_5'UTR|ADAM28_ENST00000540823.1_5'UTR	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28	6					proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		GCAAGGTCTCCTGCCAGTCAG	0.498													75	80					0	0	1	0	0	G	24151678	C	G	24151678	3	3	346	1	0	0	0	0	1	0	0	0	245	680	24	4	18	4	ADAM28	8	24151678	Missense_Mutation	SNP	C	TCGA-IK-7675-01A-11D-2086-08		24151678	122212344	18	31333											
HAUS6	54801	broad.mit.edu	37	9	19093229	19093229	+	Missense_Mutation	SNP	G	G	A	rs151253216		TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr9:19093229G>A	ENST00000380502.3	-	4	843	c.376C>T	c.(376-378)Cat>Tat	p.H126Y		NM_001270890.1|NM_017645.4	NP_001257819.1|NP_060115.3	Q7Z4H7	HAUS6_HUMAN	HAUS augmin-like complex, subunit 6	126					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|nucleus|spindle		p.H126Y(1)		autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TACATCAGATGAATAAACTTA	0.294													4	26					0	0	1	0	0	A	19093229	G	A	19093229	3	1	346	1	0	0	0	0	1	0	0	0	7011	1290	45	2	2547	2	HAUS6	9	19093229	Missense_Mutation	SNP	G	TCGA-IK-7675-01A-11D-2086-08		19093229	122120202	19	31334			1	34		2	2	36	G		5.992052e-05
HAUS6	54801	broad.mit.edu	37	9	19093264	19093264	+	Nonsense_Mutation	SNP	G	G	C			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr9:19093264G>C	ENST00000380502.3	-	4	808	c.341C>G	c.(340-342)tCa>tGa	p.S114*		NM_001270890.1|NM_017645.4	NP_001257819.1|NP_060115.3	Q7Z4H7	HAUS6_HUMAN	HAUS augmin-like complex, subunit 6	114					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|nucleus|spindle				autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						AAGAAATAGTGAACCAACAAC	0.313													6	31					0	0	1	0	0	C	19093264	G	C	19093264	4	2	346	1	0	0	0	0	0	1	0	0	7011	1294	45	5	2582	5	HAUS6	9	19093264	Nonsense_Mutation	SNP	G	TCGA-IK-7675-01A-11D-2086-08	35	19093264	122120167	20	31335			1	34		2	2	36	G		5.992052e-05
CNTNAP3	79937	broad.mit.edu	37	9	39140572	39140572	+	Missense_Mutation	SNP	A	A	C			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr9:39140572A>C	ENST00000297668.6	-	12	1893	c.1820T>G	c.(1819-1821)aTt>aGt	p.I607S	CNTNAP3_ENST00000358144.2_Missense_Mutation_p.I519S|CNTNAP3_ENST00000323947.7_Missense_Mutation_p.I514S|CNTNAP3_ENST00000377656.2_Missense_Mutation_p.I607S|CNTNAP3_ENST00000377659.1_Missense_Mutation_p.I607S	NM_033655.3	NP_387504.2	Q9BZ76	CNTP3_HUMAN	contactin associated protein-like 3	607	Fibrinogen C-terminal.				cell adhesion|cell recognition|signal transduction	extracellular region|integral to membrane|plasma membrane	receptor binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		ATCTGCATCAATATAGTAAAG	0.453													38	40					0	0	1	0	0	C	39140572	A	C	39140572	3	2	346	1	0	0	0	0	1	0	0	0	3671	101	4	4	2098	4	CNTNAP3	9	39140572	Missense_Mutation	SNP	A	TCGA-IK-7675-01A-11D-2086-08	20047308	39140572	102072859	21	31336											
SVEP1	79987	broad.mit.edu	37	9	113275228	113275228	+	Silent	SNP	G	G	A			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr9:113275228G>A	ENST00000401783.2	-	5	1617	c.1281C>T	c.(1279-1281)tcC>tcT	p.S427S	SVEP1_ENST00000374461.1_Silent_p.S404S|SVEP1_ENST00000374469.1_Silent_p.S404S|SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000302728.8_Silent_p.S427S	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	427	Sushi 1.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						TCTCTGAACCGGACCACAAAC	0.443													31	54					0	0	1	0	0	A	113275228	G	A	113275228	2	1	346	1	0	0	0	0	0	0	0	1	15476	1103	39	1		1	SVEP1	9	113275228	Silent	SNP	G	TCGA-IK-7675-01A-11D-2086-08	74134656	113275228	27938203	22	31337											
OR1N2	138882	broad.mit.edu	37	9	125316257	125316257	+	Missense_Mutation	SNP	G	G	T			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr9:125316257G>T	ENST00000373688.2	+	1	867	c.809G>T	c.(808-810)gGg>gTg	p.G270V		NM_001004457.1	NP_001004457.1	Q8NGR9	OR1N2_HUMAN	olfactory receptor, family 1, subfamily N, member 2	270					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3)	26						CTCTTCTATGGGTCTCTTATG	0.473													49	49					4.25531e-23	4.67387e-23	1	1	0	T	125316257	G	T	125316257	3	4	346	1	0	0	0	0	1	0	0	0	11018	1232	43	5	811	5	OR1N2	9	125316257	Missense_Mutation	SNP	G	TCGA-IK-7675-01A-11D-2086-08	12041029	125316257	15897174	23	31338											
HPSE2	60495	broad.mit.edu	37	10	100401630	100401630	+	Missense_Mutation	SNP	A	A	G			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr10:100401630A>G	ENST00000370552.3	-	7	1131	c.1072T>C	c.(1072-1074)Tct>Cct	p.S358P	HPSE2_ENST00000404542.1_Missense_Mutation_p.S246P|HPSE2_ENST00000370549.1_Missense_Mutation_p.S300P|HPSE2_ENST00000370546.1_Missense_Mutation_p.S358P	NM_021828.4	NP_068600.4	Q8WWQ2	HPSE2_HUMAN	heparanase 2	358					carbohydrate metabolic process	intracellular|membrane	cation binding|heparanase activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	40				Epithelial(162;1.8e-09)|all cancers(201;4.72e-07)		ATCTGGTCAGAGAGTGTGTCT	0.413													6	228					0	0	1	0	0	G	100401630	A	G	100401630	3	3	346	1	0	0	0	0	1	0	0	0	7386	304	11	3	768	3	HPSE2	10	100401630	Missense_Mutation	SNP	A	TCGA-IK-7675-01A-11D-2086-08		100401630	35133117	24	31339											
AMBRA1	55626	broad.mit.edu	37	11	46456428	46456429	+	Frame_Shift_Ins	INS	-	-	GGTTATGGGG			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr11:46456428_46456429insGGTTATGGGG	ENST00000458649.2	-	13	3209_3210	c.2791_2792insCCCCATAACC	c.(2791-2793)ctgfs	p.L931fs	AMBRA1_ENST00000534300.1_Frame_Shift_Ins_p.L871fs|AMBRA1_ENST00000314845.3_Frame_Shift_Ins_p.L841fs|AMBRA1_ENST00000533727.1_Frame_Shift_Ins_p.L812fs|AMBRA1_ENST00000426438.1_Frame_Shift_Ins_p.L902fs|AMBRA1_ENST00000528950.1_Frame_Shift_Ins_p.L902fs|AMBRA1_ENST00000298834.3_Frame_Shift_Ins_p.L871fs			Q9C0C7	AMRA1_HUMAN	autophagy/beclin-1 regulator 1	931					autophagy|cell differentiation|nervous system development	autophagic vacuole|cytoplasmic vesicle				NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		CATTTCGCCCAGGTTATGGGGG	0.569													8	14	---	---	---	---						GGTTATGGGG	46456429	-	GGTTATGGGG	46456428	7	5	346	1	0	1	1	0	0	0	0	0	561	188	7	0	1128	0	AMBRA1	11	46456428	Frame_Shift_Ins	INS	-	TCGA-IK-7675-01A-11D-2086-08		46456428	88550088	25	31340											
OR9G1	390174	broad.mit.edu	37	11	56468238	56468238	+	Silent	SNP	C	C	T			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr11:56468238C>T	ENST00000312153.1	+	1	375	c.375C>T	c.(373-375)atC>atT	p.I125I		NM_001005213.1	NP_001005213.1			olfactory receptor, family 9, subfamily G, member 1									p.I125I(1)		breast(2)|kidney(1)|lung(25)|stomach(2)|upper_aerodigestive_tract(1)	31						ACGTGGCCATCTCCAAGCCCC	0.522													6	149					0	0	1	0	0	T	56468238	C	T	56468238	2	4	346	1	0	0	0	0	0	0	0	1	11297	903	32	2		2	OR9G1	11	56468238	Silent	SNP	C	TCGA-IK-7675-01A-11D-2086-08	10011810	56468238	78538278	26	31341											
PCNXL3	399909	broad.mit.edu	37	11	65403262	65403262	+	Missense_Mutation	SNP	G	G	A			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr11:65403262G>A	ENST00000355703.3	+	32	5986	c.5447G>A	c.(5446-5448)cGc>cAc	p.R1816H		NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN	pecanex-like 3 (Drosophila)	1816						integral to membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						TGGCTCCTGCGCACCTGGGAG	0.687													7	7					0	0	1	0	0	A	65403262	G	A	65403262	3	1	346	1	0	0	0	0	1	0	0	0	11640	1087	38	1	5573	1	PCNXL3	11	65403262	Missense_Mutation	SNP	G	TCGA-IK-7675-01A-11D-2086-08	8935024	65403262	69603254	27	31342											
FOLH1B	219595	broad.mit.edu	37	11	89395322	89395322	+	RNA	SNP	C	C	T			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr11:89395322C>T	ENST00000532352.1	+	0	720							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B						proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						TTTCAGAATACGCTTATAGGC	0.343													3	60					0	0	1	0	0	T	89395322	C	T	89395322	1	4	346	0	1	0	0	0	0	0	0	0	6013	551	19	1		1	FOLH1B	11	89395322	RNA	SNP	C	TCGA-IK-7675-01A-11D-2086-08	23992060	89395322	45611194	28	31343											
PLEKHA5	54477	broad.mit.edu	37	12	19475547	19475547	+	Silent	SNP	T	T	C			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr12:19475547T>C	ENST00000538714.1	+	17	2263	c.2259T>C	c.(2257-2259)gaT>gaC	p.D753D	PLEKHA5_ENST00000429027.2_Silent_p.D798D|PLEKHA5_ENST00000539256.1_Silent_p.D453D|PLEKHA5_ENST00000424268.1_Silent_p.D626D|PLEKHA5_ENST00000317589.4_Silent_p.D695D|PLEKHA5_ENST00000299275.6_Silent_p.D695D|PLEKHA5_ENST00000359180.3_Silent_p.D695D|PLEKHA5_ENST00000355397.3_Silent_p.D753D|PLEKHA5_ENST00000543806.1_Silent_p.D614D	NM_001143821.2	NP_001137293.2	Q9HAU0	PKHA5_HUMAN	pleckstrin homology domain containing, family A member 5	695							1-phosphatidylinositol binding|protein binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)					TACAAAGGGATGATTTACAAA	0.408													56	56					0	0	1	0	0	C	19475547	T	C	19475547	2	2	346	1	0	0	0	0	0	0	0	1	12107	1461	51	3		3	PLEKHA5	12	19475547	Silent	SNP	T	TCGA-IK-7675-01A-11D-2086-08		19475547	114376348	29	31344											
KRT3	3850	broad.mit.edu	37	12	53189414	53189431	+	In_Frame_Del	DEL	CCAAAGCCACCAGCCCCT	CCAAAGCCACCAGCCCCT	-	rs142692092	by1000genomes	TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr12:53189414_53189431delCCAAAGCCACCAGCCCCT	ENST00000417996.2	-	1	470_487	c.396_413delAGGGGCTGGTGGCTTTGG	c.(394-414)ggaggggctggtggctttggt>ggt	p.132_138GGAGGFG>G	KRT3_ENST00000309505.3_In_Frame_Del_p.132_138GGAGGFG>G	NM_057088.2	NP_476429.2	P12035	K2C3_HUMAN	keratin 3	132	Gly-rich.|Head.				epithelial cell differentiation|intermediate filament cytoskeleton organization	keratin filament	structural molecule activity			NS(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|skin(1)	23						accaggaccaccaaagccaccagcccctccaaagccac	0.633													4	4	---	---	---	---						-	53189431	CCAAAGCCACCAGCCCCT	-	53189414	7	5	346	1	0	1	0	1	0	0	0	0	8509	507	18	0	1509	0	KRT3	12	53189414	In_Frame_Del	DEL	CCAAAGCCACCAGCCCCT	TCGA-IK-7675-01A-11D-2086-08	33713867	53189414	80662481	30	31345											
APBA2	321	broad.mit.edu	37	15	29346413	29346413	+	Missense_Mutation	SNP	G	G	A			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr15:29346413G>A	ENST00000558402.1	+	5	925	c.326G>A	c.(325-327)aGc>aAc	p.S109N	APBA2_ENST00000558259.1_Missense_Mutation_p.S109N|APBA2_ENST00000558330.1_Missense_Mutation_p.S109N|APBA2_ENST00000411764.1_Missense_Mutation_p.S109N|APBA2_ENST00000561069.1_Missense_Mutation_p.S109N			Q99767	APBA2_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 2	109					nervous system development|protein transport		protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		GAGGACGACAGCTACCTAGAG	0.607													4	178					0	0	1	0	0	A	29346413	G	A	29346413	3	1	346	1	0	0	0	0	1	0	0	0	753	971	34	2	328	2	APBA2	15	29346413	Missense_Mutation	SNP	G	TCGA-IK-7675-01A-11D-2086-08		29346413	73184979	31	31346											
ZNF609	23060	broad.mit.edu	37	15	64966267	64966267	+	Missense_Mutation	SNP	C	C	G			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr15:64966267C>G	ENST00000326648.3	+	4	1342	c.1214C>G	c.(1213-1215)gCc>gGc	p.A405G	ZNF609_ENST00000559364.1_3'UTR	NM_015042.1	NP_055857.1	O15014	ZN609_HUMAN	zinc finger protein 609	405						nucleus	zinc ion binding			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CGGGCAGGAGCCAATAGCAAA	0.567													67	104					0	0	1	0	0	G	64966267	C	G	64966267	3	3	346	1	0	0	0	0	1	0	0	0	18092	739	26	5	1228	5	ZNF609	15	64966267	Missense_Mutation	SNP	C	TCGA-IK-7675-01A-11D-2086-08	35619854	64966267	37565125	32	31347											
GGA2	23062	broad.mit.edu	37	16	23491094	23491094	+	Missense_Mutation	SNP	G	G	T			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr16:23491094G>T	ENST00000309859.4	-	11	1203	c.1121C>A	c.(1120-1122)gCa>gAa	p.A374E	GGA2_ENST00000569182.1_5'UTR|GGA2_ENST00000567468.1_Intron	NM_015044.4	NP_055859.1	Q9UJY4	GGA2_HUMAN	golgi-associated, gamma adaptin ear containing, ARF binding protein 2	374	Unstructured hinge.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|clathrin-coated vesicle|endosome membrane|trans-Golgi network	ADP-ribosylation factor binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(4)|ovary(1)	21				GBM - Glioblastoma multiforme(48;0.0386)		ACCCAAGGCTGCCAGGTCCTG	0.612													11	73					0.000566183	0.000574762	1	1	0	T	23491094	G	T	23491094	3	4	346	1	0	0	0	0	1	0	0	0	6395	1319	46	5	748	5	GGA2	16	23491094	Missense_Mutation	SNP	G	TCGA-IK-7675-01A-11D-2086-08		23491094	66863659	33	31348											
ABCC12	94160	broad.mit.edu	37	16	48145730	48145730	+	Missense_Mutation	SNP	C	C	T			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr16:48145730C>T	ENST00000311303.3	-	14	2426	c.2081G>A	c.(2080-2082)cGc>cAc	p.R694H	ABCC12_ENST00000416054.1_3'UTR|ABCC12_ENST00000448542.1_Missense_Mutation_p.R694H	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	694	ABC transporter 1.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				TTTTGCATAGCGCCCTCTCTC	0.463													33	65					0	0	1	0	0	T	48145730	C	T	48145730	3	4	346	1	0	0	0	0	1	0	0	0	52	768	27	1	2062	1	ABCC12	16	48145730	Missense_Mutation	SNP	C	TCGA-IK-7675-01A-11D-2086-08	24654636	48145730	42209023	34	31349											
SLC6A2	6530	broad.mit.edu	37	16	55734096	55734096	+	Missense_Mutation	SNP	G	G	A			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr16:55734096G>A	ENST00000379906.2	+	12	1891	c.1636G>A	c.(1636-1638)Gac>Aac	p.D546N	SLC6A2_ENST00000566163.1_Missense_Mutation_p.D501N|SLC6A2_ENST00000561820.1_Missense_Mutation_p.D546N|SLC6A2_ENST00000219833.8_Missense_Mutation_p.D546N|SLC6A2_ENST00000567238.1_Missense_Mutation_p.D441N|SLC6A2_ENST00000414754.3_Intron|SLC6A2_ENST00000568943.1_Missense_Mutation_p.D546N	NM_001043.3	NP_001034.1	P23975	SC6A2_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 2	546					synaptic transmission	integral to plasma membrane|membrane fraction	norepinephrine:sodium symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(3)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267)	Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Atomoxetine(DB00289)|Bethanidine(DB00217)|Bupropion(DB01156)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Diethylpropion(DB00937)|Doxepin(DB01142)|Duloxetine(DB00476)|Ergotamine(DB00696)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Maprotiline(DB00934)|Mazindol(DB00579)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)	ACTCACCTACGACGACTACAT	0.547													5	138					0	0	1	0	0	A	55734096	G	A	55734096	3	1	346	1	0	0	0	0	1	0	0	0	14738	1058	37	1	1773	1	SLC6A2	16	55734096	Missense_Mutation	SNP	G	TCGA-IK-7675-01A-11D-2086-08	7588366	55734096	34620657	35	31350											
WDR81	124997	broad.mit.edu	37	17	1637326	1637326	+	Silent	SNP	C	C	T	rs143987787		TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr17:1637326C>T	ENST00000409644.1	+	7	4995	c.4995C>T	c.(4993-4995)agC>agT	p.S1665S	WDR81_ENST00000545662.1_Silent_p.S296S|RP11-961A15.1_ENST00000576540.1_RNA|WDR81_ENST00000419248.1_Silent_p.S438S|WDR81_ENST00000446363.1_Silent_p.S304S|WDR81_ENST00000437219.2_Silent_p.S462S|WDR81_ENST00000309182.5_Silent_p.S614S	NM_001163809.1	NP_001157281.1	B3KXU1	B3KXU1_HUMAN	WD repeat domain 81	438										cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		TCTTCCTGAGCGGCAGCAAGG	0.657													44	67					0	0	1	0	0	T	1637326	C	T	1637326	2	4	346	1	0	0	0	0	0	0	0	1	17390	767	27	1		1	WDR81	17	1637326	Silent	SNP	C	TCGA-IK-7675-01A-11D-2086-08		1637326	79557884	36	31351											
RABEP1	9135	broad.mit.edu	37	17	5257698	5257698	+	Silent	SNP	A	A	G			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr17:5257698A>G	ENST00000262477.6	+	8	1232	c.1008A>G	c.(1006-1008)aaA>aaG	p.K336K	RABEP1_ENST00000408982.2_Silent_p.K336K|RABEP1_ENST00000537505.1_Silent_p.K293K|RABEP1_ENST00000341923.6_Silent_p.K336K|RABEP1_ENST00000546142.2_Silent_p.K336K	NM_004703.4	NP_004694.2	Q15276	RABE1_HUMAN	rabaptin, RAB GTPase binding effector protein 1	336					apoptosis|cellular membrane fusion|endocytosis|protein transport	centrosome|early endosome|endocytic vesicle|recycling endosome	growth factor activity|GTPase activator activity|protein homodimerization activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	8						AGGATCACAAAAAAGCAGATG	0.338													25	24					0	0	1	0	0	G	5257698	A	G	5257698	2	3	346	1	0	0	0	0	0	0	0	1	13013	11	1	3		3	RABEP1	17	5257698	Silent	SNP	A	TCGA-IK-7675-01A-11D-2086-08	3620372	5257698	75937512	37	31352											
TP53	7157	broad.mit.edu	37	17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	rs121913343		TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr17:7577121G>A	ENST00000420246.2	-	8	949	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000269305.4_Missense_Mutation_p.R273C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	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).		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.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			23	4					0	0	1	0	0	A	7577121	G	A	7577121	3	1	346	1	0	0	0	0	1	0	0	0	16442	1087	38	1	469	1	TP53	17	7577121	Missense_Mutation	SNP	G	TCGA-IK-7675-01A-11D-2086-08	2319423	7577121	73618089	38	31353											
CASC3	22794	broad.mit.edu	37	17	38320314	38320314	+	Missense_Mutation	SNP	G	G	T			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr17:38320314G>T	ENST00000264645.7	+	7	1592	c.1366G>T	c.(1366-1368)Gat>Tat	p.D456Y		NM_007359.4	NP_031385.2	O15234	CASC3_HUMAN	cancer susceptibility candidate 3	456	Necessary for localization in cytoplasmic stress granules.				mRNA processing|mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|response to stress|RNA splicing	exon-exon junction complex|nuclear speck|perinuclear region of cytoplasm	identical protein binding|RNA binding|ubiquitin protein ligase binding			endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2)	16						AGCTCCGGTGGATTCTAGTAC	0.542													29	34					9.17885e-22	9.91908e-22	1	1	0	T	38320314	G	T	38320314	3	4	346	1	0	0	0	0	1	0	0	0	2679	1174	41	5	1392	5	CASC3	17	38320314	Missense_Mutation	SNP	G	TCGA-IK-7675-01A-11D-2086-08	30743193	38320314	42874896	39	31354											
G6PC	2538	broad.mit.edu	37	17	41059590	41059590	+	Missense_Mutation	SNP	G	G	A			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr17:41059590G>A	ENST00000253801.2	+	3	470	c.391G>A	c.(391-393)Gtc>Atc	p.V131I	G6PC_ENST00000592383.1_Intron|G6PC_ENST00000585489.1_Missense_Mutation_p.V131I	NM_000151.3	NP_000142.2	P35575	G6PC_HUMAN	glucose-6-phosphatase, catalytic subunit	131					gluconeogenesis|glucose homeostasis|transmembrane transport	integral to endoplasmic reticulum membrane	glucose-6-phosphatase activity|phosphate binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)	23		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.113)		CTACGTGATGGTCACATCTAC	0.517													21	45					0	0	1	0	0	A	41059590	G	A	41059590	3	1	346	1	0	0	0	0	1	0	0	0	6178	1261	44	2	401	2	G6PC	17	41059590	Missense_Mutation	SNP	G	TCGA-IK-7675-01A-11D-2086-08	2739276	41059590	40135620	40	31355											
ZNF709	163051	broad.mit.edu	37	19	12575498	12575498	+	Missense_Mutation	SNP	G	G	A			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr19:12575498G>A	ENST00000397732.3	-	4	1409	c.1238C>T	c.(1237-1239)aCt>aTt	p.T413I	ZNF709_ENST00000428311.1_Missense_Mutation_p.T413I|CTD-3105H18.18_ENST00000598753.1_Intron	NM_152601.3	NP_689814.1	Q8N972	ZN709_HUMAN	zinc finger protein 709	413					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.T413I(2)		large_intestine(3)|upper_aerodigestive_tract(3)	6						TCCAGTGTGAGTTCTTTCATG	0.418													4	175					0	0	1	0	0	A	12575498	G	A	12575498	3	1	346	1	0	0	0	0	1	0	0	0	18169	1029	36	2	691	2	ZNF709	19	12575498	Missense_Mutation	SNP	G	TCGA-IK-7675-01A-11D-2086-08		12575498	46553485	41	31356											
RFX1	5989	broad.mit.edu	37	19	14077272	14077272	+	Missense_Mutation	SNP	T	T	C			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr19:14077272T>C	ENST00000254325.4	-	14	2156	c.1922A>G	c.(1921-1923)tAc>tGc	p.Y641C		NM_002918.4	NP_002909.4	P22670	RFX1_HUMAN	regulatory factor X, 1 (influences HLA class II expression)	641					immune response	nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(19;6.67e-23)			GCTGAGGTTGTACCTCCAGAA	0.642													22	25					0	0	1	0	0	C	14077272	T	C	14077272	3	2	346	1	0	0	0	0	1	0	0	0	13314	1638	57	3	1049	3	RFX1	19	14077272	Missense_Mutation	SNP	T	TCGA-IK-7675-01A-11D-2086-08	1501774	14077272	45051711	42	31357											
RASIP1	54922	broad.mit.edu	37	19	49227649	49227649	+	Missense_Mutation	SNP	C	C	T			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr19:49227649C>T	ENST00000222145.4	-	10	2693	c.2489G>A	c.(2488-2490)cGg>cAg	p.R830Q		NM_017805.2	NP_060275.2	Q5U651	RAIN_HUMAN	Ras interacting protein 1	830	Dilute.				signal transduction	Golgi stack|perinuclear region of cytoplasm				central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	21		all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000272)|Epithelial(262;0.0155)|GBM - Glioblastoma multiforme(486;0.0222)		GGAGAGTTTCCGGAAGAACTC	0.572													53	66					0	0	1	0	0	T	49227649	C	T	49227649	3	4	346	1	0	0	0	0	1	0	0	0	13130	652	23	1	414	1	RASIP1	19	49227649	Missense_Mutation	SNP	C	TCGA-IK-7675-01A-11D-2086-08	35150377	49227649	9901334	43	31358											
ZNF761	388561	broad.mit.edu	37	19	53958983	53958983	+	RNA	SNP	A	A	C			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr19:53958983A>C	ENST00000454407.1	+	0	1675							Q86XN6	ZN761_HUMAN	zinc finger protein 761						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		TACTGGAGAGAAACCTTACAA	0.368													4	229					0	0	1	0	0	C	53958983	A	C	53958983	1	2	346	0	1	0	0	0	0	0	0	0	18186	247	9	5		5	ZNF761	19	53958983	RNA	SNP	A	TCGA-IK-7675-01A-11D-2086-08	4731334	53958983	5170000	44	31359											
JPH2	57158	broad.mit.edu	37	20	42788430	42788430	+	Missense_Mutation	SNP	C	C	T			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr20:42788430C>T	ENST00000372980.3	-	2	1869	c.997G>A	c.(997-999)Gac>Aac	p.D333N		NM_020433.4	NP_065166.2	Q9BR39	JPH2_HUMAN	junctophilin 2	333					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane				NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			CGGTGGCCGTCGGGCAGCGTG	0.662													37	26					0	0	1	0	0	T	42788430	C	T	42788430	3	4	346	1	0	0	0	0	1	0	0	0	8005	884	31	1	1109	1	JPH2	20	42788430	Missense_Mutation	SNP	C	TCGA-IK-7675-01A-11D-2086-08		42788430	20237090	45	31360											
KRTAP20-2	337976	broad.mit.edu	37	21	32007647	32007647	+	Missense_Mutation	SNP	A	A	G			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr21:32007647A>G	ENST00000330798.2	+	1	93	c.65A>G	c.(64-66)tAt>tGt	p.Y22C		NM_181616.1	NP_853647.1	Q3LI61	KR202_HUMAN	keratin associated protein 20-2	22						intermediate filament				central_nervous_system(1)|endometrium(3)|kidney(1)|lung(2)|ovary(1)	8						GGCGGTGGCTATGGCTGTGGC	0.562													62	64					0	0	1	0	0	G	32007647	A	G	32007647	3	3	346	1	0	0	0	0	1	0	0	0	8580	449	16	3	67	3	KRTAP20-2	21	32007647	Missense_Mutation	SNP	A	TCGA-IK-7675-01A-11D-2086-08		32007647	16122248	46	31361											
MN1	4330	broad.mit.edu	37	22	28195603	28195605	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr22:28195603_28195605delTGC	ENST00000302326.4	-	1	1881_1883	c.927_929delGCA	c.(925-930)cagcat>cat	p.Q309del		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	309							binding			NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						GAACACACCAtgctgctgctgct	0.64			T	ETV6	"AML, meningioma"								2	4	---	---	---	---						-	28195605	TGC	-	28195603	7	5	346	1	0	1	0	1	0	0	0	0	9722	1464	51	0	3041	0	MN1	22	28195603	In_Frame_Del	DEL	TGC	TCGA-IK-7675-01A-11D-2086-08		28195603	23108963	47	31362			2	35		2	2	23	N	TGC_GCT	3.766475e-05
MN1	4330	broad.mit.edu	37	22	28195625	28195627	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr22:28195625_28195627delGCT	ENST00000302326.4	-	1	1859_1861	c.905_907delAGC	c.(904-909)cagccc>ccc	p.Q302del		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	302	Poly-Gln.						binding			NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						tgctgctggggctgctgctgctg	0.66			T	ETV6	"AML, meningioma"								2	4	---	---	---	---						-	28195627	GCT	-	28195625	7	5	346	1	0	1	0	1	0	0	0	0	9722	1203	42	0	3063	0	MN1	22	28195625	In_Frame_Del	DEL	GCT	TCGA-IK-7675-01A-11D-2086-08	22	28195625	23108941	48	31363			2	35		2	2	23	N	TGC_GCT	3.766475e-05
TUBGCP6	85378	broad.mit.edu	37	22	50659166	50659166	+	Missense_Mutation	SNP	T	T	C	rs145066767		TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr22:50659166T>C	ENST00000439308.2	-	16	4114	c.3622A>G	c.(3622-3624)Acc>Gcc	p.T1208A	TUBGCP6_ENST00000248846.5_Missense_Mutation_p.T1208A|TUBGCP6_ENST00000491449.1_5'UTR	NM_020461.3	NP_065194.2	Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	1208	9 X 27 AA tandem repeats.				G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		CGTGGCCGGGTGGGAGCCATG	0.622													4	119					0	0	1	0	0	C	50659166	T	C	50659166	3	2	346	1	0	0	0	0	1	0	0	0	16832	1696	59	3	1877	3	TUBGCP6	22	50659166	Missense_Mutation	SNP	T	TCGA-IK-7675-01A-11D-2086-08	22463541	50659166	645400	49	31364			3	36	22463541	2	2	47	N	T_A	7.875194e-05
TUBGCP6	85378	broad.mit.edu	37	22	50659212	50659212	+	Silent	SNP	A	A	G	rs141527317		TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr22:50659212A>G	ENST00000439308.2	-	16	4068	c.3576T>C	c.(3574-3576)tcT>tcC	p.S1192S	TUBGCP6_ENST00000248846.5_Silent_p.S1192S|TUBGCP6_ENST00000491449.1_5'UTR	NM_020461.3	NP_065194.2	Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	1192	9 X 27 AA tandem repeats.				G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		TGCTGGCATCAGACACGTGTC	0.617													6	128					0	0	1	0	0	G	50659212	A	G	50659212	2	3	346	1	0	0	0	0	0	0	0	1	16832	175	7	3		3	TUBGCP6	22	50659212	Silent	SNP	A	TCGA-IK-7675-01A-11D-2086-08	46	50659212	645354	50	31365			3	36	22463541	2	2	47	N	T_A	7.875194e-05
FANCB	2187	broad.mit.edu	37	X	14863149	14863149	+	Missense_Mutation	SNP	G	G	A			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chrX:14863149G>A	ENST00000398334.1	-	8	2023	c.1756C>T	c.(1756-1758)Cca>Tca	p.P586S	FANCB_ENST00000324138.3_Missense_Mutation_p.P586S	NM_001018113.1	NP_001018123.1	Q8NB91	FANCB_HUMAN	Fanconi anemia, complementation group B	586					DNA repair	nucleoplasm				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24	Hepatocellular(33;0.183)					GTTAAAAGTGGTGAAAGAGAT	0.388								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				78	13					0	0	1	0	0	A	14863149	G	A	14863149	3	1	346	1	0	0	0	0	1	0	0	0	5696	1261	44	2	835	2	FANCB	23	14863149	Missense_Mutation	SNP	G	TCGA-IK-7675-01A-11D-2086-08		14863149	140407411	51	31366											
GRPR	2925	broad.mit.edu	37	X	16170454	16170454	+	Missense_Mutation	SNP	C	C	A			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chrX:16170454C>A	ENST00000380289.2	+	3	1239	c.841C>A	c.(841-843)Cat>Aat	p.H281N		NM_005314.2	NP_005305.1	P30550	GRPR_HUMAN	gastrin-releasing peptide receptor	281					cell proliferation	integral to plasma membrane	bombesin receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(3)|stomach(1)|upper_aerodigestive_tract(3)	25	Hepatocellular(33;0.183)					GCTCCCCAATCATGTCATCTA	0.547													149	19					4.26566e-80	4.76332e-80	1	1	0	A	16170454	C	A	16170454	3	1	346	1	0	0	0	0	1	0	0	0	6849	826	29	5	851	5	GRPR	23	16170454	Missense_Mutation	SNP	C	TCGA-IK-7675-01A-11D-2086-08	1307305	16170454	139100106	52	31367											
ATRX	546	broad.mit.edu	37	X	76937611	76937615	+	Frame_Shift_Del	DEL	CTTTT	CTTTT	-			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chrX:76937611_76937615delCTTTT	ENST00000373344.5	-	9	3347_3351	c.3133_3137delAAAAG	c.(3133-3138)aaaagtfs	p.KS1045fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.KS1007fs	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1045					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)	TATTTTTTTACTTTTCTTTTCTCCA	0.337			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						35	19	---	---	---	---						-	76937615	CTTTT	-	76937611	7	5	346	1	0	1	0	1	0	0	0	0	1206	565	20	0	4449	0	ATRX	23	76937611	Frame_Shift_Del	DEL	CTTTT	TCGA-IK-7675-01A-11D-2086-08	60767157	76937611	78332949	53	31368											
HFM1	164045	broad.mit.edu	37	1	91781979	91781980	+	Frame_Shift_Ins	INS	-	-	T			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr1:91781979_91781980insT	ENST00000370425.3	-	26	2964_2965	c.2866_2867insA	c.(2866-2868)atafs	p.I956fs	HFM1_ENST00000370424.3_Frame_Shift_Ins_p.I635fs|HFM1_ENST00000294696.5_Frame_Shift_Ins_p.I188fs|HFM1_ENST00000462405.1_5'UTR	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	956	SEC63.						ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		TGTCTCTTCTATTTTTTTAAAG	0.292													29	20	---	---	---	---						T	91781980	-	T	91781979	7	5	347	1	0	1	1	0	0	0	0	0	7124	449	16	0	1496	0	HFM1	1	91781979	Frame_Shift_Ins	INS	-	TCGA-IK-8125-01A-11D-2253-08		91781979	157468642	1	31369											
KPRP	448834	broad.mit.edu	37	1	152733157	152733157	+	Missense_Mutation	SNP	G	G	A			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr1:152733157G>A	ENST00000368773.1	+	2	1151	c.1093G>A	c.(1093-1095)Gcc>Acc	p.A365T	KPRP_ENST00000606109.1_Missense_Mutation_p.A365T	NM_001025231.1	NP_001020402.1	Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	365	Pro-rich.					cytoplasm		p.A365T(1)		NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTCCTGGGGCGCCTCCTGCCC	0.662													13	75					0	0	1	0	0	A	152733157	G	A	152733157	3	1	347	1	0	0	0	0	1	0	0	0	8479	1087	38	1	1095	1	KPRP	1	152733157	Missense_Mutation	SNP	G	TCGA-IK-8125-01A-11D-2253-08	60951178	152733157	96517464	2	31370											
CHRM3	1131	broad.mit.edu	37	1	240070879	240070879	+	Missense_Mutation	SNP	C	C	T			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr1:240070879C>T	ENST00000255380.4	+	5	907	c.128C>T	c.(127-129)tCt>tTt	p.S43F		NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	43					cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity	p.S43Y(1)		breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)	TACAATGTTTCTCGAGCAGCT	0.562													6	108					0	0	1	0	0	T	240070879	C	T	240070879	3	4	347	1	0	0	0	0	1	0	0	0	3400	913	32	2	130	2	CHRM3	1	240070879	Missense_Mutation	SNP	C	TCGA-IK-8125-01A-11D-2253-08	87337722	240070879	9179742	3	31371											
THSD7B	80731	broad.mit.edu	37	2	137814593	137814593	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr2:137814593G>A	ENST00000409968.1	+	3	921	c.743G>A	c.(742-744)tGg>tAg	p.W248*	THSD7B_ENST00000413152.2_Nonsense_Mutation_p.W217*|THSD7B_ENST00000543459.1_Nonsense_Mutation_p.W107*|THSD7B_ENST00000272643.3_Nonsense_Mutation_p.W248*					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		GTTGGACCATGGAGTAAATGC	0.413													37	55					0	0	1	0	0	A	137814593	G	A	137814593	4	1	347	1	0	0	0	0	0	1	0	0	15940	1357	47	2	656	2	THSD7B	2	137814593	Nonsense_Mutation	SNP	G	TCGA-IK-8125-01A-11D-2253-08		137814593	105384780	4	31372											
TTN	7273	broad.mit.edu	37	2	179634978	179634978	+	Missense_Mutation	SNP	C	C	G			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr2:179634978C>G	ENST00000589042.1	-	36	8674	c.8450G>C	c.(8449-8451)aGt>aCt	p.S2817T	TTN_ENST00000342175.6_Missense_Mutation_p.S2771T|TTN-AS1_ENST00000610005.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.S2817T|TTN_ENST00000342992.6_Missense_Mutation_p.S2817T|TTN_ENST00000359218.5_Missense_Mutation_p.S2771T|TTN_ENST00000360870.5_Missense_Mutation_p.S2817T|TTN_ENST00000460472.2_Missense_Mutation_p.S2771T	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	2555							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATGGGAAACACTAACTTCAAA	0.408													8	84					0	0	1	0	0	G	179634978	C	G	179634978	3	3	347	1	0	0	0	0	1	0	0	0	16797	565	20	4	102846	4	TTN	2	179634978	Missense_Mutation	SNP	C	TCGA-IK-8125-01A-11D-2253-08	41820385	179634978	63564395	5	31373											
CCDC141	285025	broad.mit.edu	37	2	179720137	179720137	+	Missense_Mutation	SNP	T	T	G			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr2:179720137T>G	ENST00000420890.2	-	19	3114	c.2997A>C	c.(2995-2997)aaA>aaC	p.K999N	CCDC141_ENST00000295723.5_Missense_Mutation_p.K424N	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	424							protein binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			CTGTCACAACTTTGTCAAAGT	0.353													4	35					0	0	1	0	0	G	179720137	T	G	179720137	3	3	347	1	0	0	0	0	1	0	0	0	2793	1606	56	5	1375	5	CCDC141	2	179720137	Missense_Mutation	SNP	T	TCGA-IK-8125-01A-11D-2253-08	85159	179720137	63479236	6	31374											
MYO1B	4430	broad.mit.edu	37	2	192257829	192257829	+	Missense_Mutation	SNP	C	C	T			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr2:192257829C>T	ENST00000392318.3	+	20	2354	c.2107C>T	c.(2107-2109)Cgc>Tgc	p.R703C	MYO1B_ENST00000392316.1_Missense_Mutation_p.R703C|MYO1B_ENST00000339514.4_Missense_Mutation_p.R703C|MYO1B_ENST00000439065.2_5'UTR|MYO1B_ENST00000304164.4_Missense_Mutation_p.R703C	NM_001130158.1	NP_001123630.1	O43795	MYO1B_HUMAN	myosin IB	703						myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|central_nervous_system(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(19)|ovary(1)	55			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)			GAGGAAGCAACGCCTGGAGGA	0.413													3	50					0	0	1	0	0	T	192257829	C	T	192257829	3	4	347	1	0	0	0	0	1	0	0	0	10117	536	19	1	2181	1	MYO1B	2	192257829	Missense_Mutation	SNP	C	TCGA-IK-8125-01A-11D-2253-08	12537692	192257829	50941544	7	31375											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	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	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								16	49					0	0	1	0	0	T	209113112	C	T	209113112	3	4	347	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-IK-8125-01A-11D-2253-08	16855283	209113112	34086261	8	31376											
NGEF	25791	broad.mit.edu	37	2	233759484	233759484	+	Missense_Mutation	SNP	A	A	G			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr2:233759484A>G	ENST00000264051.3	-	6	1249	c.971T>C	c.(970-972)gTg>gCg	p.V324A	NGEF_ENST00000539537.1_Missense_Mutation_p.V47A|NGEF_ENST00000373552.4_Missense_Mutation_p.V232A|NGEF_ENST00000409079.1_Missense_Mutation_p.V232A	NM_019850.2	NP_062824.2	Q8N5V2	NGEF_HUMAN	neuronal guanine nucleotide exchange factor	324	DH.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|growth cone|plasma membrane	Rho guanyl-nucleotide exchange factor activity			central_nervous_system(4)|endometrium(8)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|skin(4)	35		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604)		GACAGCCAGCACGTCCAGGAC	0.602													30	64					0	0	1	0	0	G	233759484	A	G	233759484	3	3	347	1	0	0	0	0	1	0	0	0	10441	159	6	3	1201	3	NGEF	2	233759484	Missense_Mutation	SNP	A	TCGA-IK-8125-01A-11D-2253-08	24646372	233759484	9439889	9	31377											
FLNB	2317	broad.mit.edu	37	3	58097875	58097875	+	Splice_Site	SNP	G	G	A			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr3:58097875G>A	ENST00000357272.4	+	18	2740		c.e18-1		FLNB_ENST00000295956.4_Splice_Site|FLNB_ENST00000429972.2_Splice_Site|FLNB_ENST00000348383.5_Splice_Site|FLNB_ENST00000358537.3_Splice_Site|FLNB_ENST00000419752.2_Splice_Site|FLNB_ENST00000493452.1_Splice_Site|FLNB_ENST00000490882.1_Splice_Site			O75369	FLNB_HUMAN	filamin B, beta						actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		TATCTTTCCAGGTGTGGAAAA	0.522													66	106					0	0	1	0	0	A	58097875	G	A	58097875	5	1	347	1	0	0	0	0	0	0	1	0	5967	1014	35	2	2645	2	FLNB	3	58097875	Splice_Site	SNP	G	TCGA-IK-8125-01A-11D-2253-08		58097875	139924555	10	31378											
CRYBG3	131544	broad.mit.edu	37	3	97596597	97596597	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr3:97596597C>T	ENST00000182096.4	+	1	779	c.715C>T	c.(715-717)Cag>Tag	p.Q239*		NM_153605.3	NP_705833.3			beta-gamma crystallin domain containing 3											breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(10)|stomach(1)|upper_aerodigestive_tract(2)	32						CCCTGATGACCAGGAGAGCGT	0.468													10	20					0	0	1	0	0	T	97596597	C	T	97596597	4	4	347	1	0	0	0	0	0	1	0	0	3936	595	21	2	717	2	CRYBG3	3	97596597	Nonsense_Mutation	SNP	C	TCGA-IK-8125-01A-11D-2253-08	39498722	97596597	100425833	11	31379											
ABI3BP	25890	broad.mit.edu	37	3	100523693	100523693	+	Missense_Mutation	SNP	G	G	A			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr3:100523693G>A	ENST00000471714.1	-	51	3830	c.3721C>T	c.(3721-3723)Cgt>Tgt	p.R1241C	ABI3BP_ENST00000383691.4_Missense_Mutation_p.R518C|ABI3BP_ENST00000284322.5_Missense_Mutation_p.R564C			Q7Z7G0	TARSH_HUMAN	ABI family, member 3 (NESH) binding protein	564						extracellular space				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						GCAGTAACACGCTGGGGCACC	0.398													13	33					0	0	1	0	0	A	100523693	G	A	100523693	3	1	347	1	0	0	0	0	1	0	0	0	91	1087	38	1	1601	1	ABI3BP	3	100523693	Missense_Mutation	SNP	G	TCGA-IK-8125-01A-11D-2253-08	2927096	100523693	97498737	12	31380											
ENAM	10117	broad.mit.edu	37	4	71508741	71508741	+	Missense_Mutation	SNP	C	C	T			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr4:71508741C>T	ENST00000396073.3	+	9	1879	c.1598C>T	c.(1597-1599)aCt>aTt	p.T533I	ENAM_ENST00000472903.1_Intron	NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	533					bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel			haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			GAATCAGAAACTAATCAGTCA	0.413													27	52					0	0	1	0	0	T	71508741	C	T	71508741	3	4	347	1	0	0	0	0	1	0	0	0	5140	565	20	2	1628	2	ENAM	4	71508741	Missense_Mutation	SNP	C	TCGA-IK-8125-01A-11D-2253-08		71508741	119645535	13	31381											
NAF1	92345	broad.mit.edu	37	4	164050323	164050323	+	Missense_Mutation	SNP	T	T	C			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr4:164050323T>C	ENST00000274054.2	-	8	1404	c.1211A>G	c.(1210-1212)cAg>cGg	p.Q404R	NAF1_ENST00000509434.1_Intron|NAF1_ENST00000422287.2_Intron	NM_138386.2	NP_612395.2	Q96HR8	NAF1_HUMAN	nuclear assembly factor 1 ribonucleoprotein	404					rRNA processing|snRNA pseudouridine synthesis	cytoplasm|nucleus|small nucleolar ribonucleoprotein complex	protein binding|snoRNA binding			NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(10)|ovary(2)	21	all_hematologic(180;0.166)	Prostate(90;0.109)				TGAAGTCTCCTGAGATACCAT	0.458													9	42					0	0	1	0	0	C	164050323	T	C	164050323	3	2	347	1	0	0	0	0	1	0	0	0	10188	1580	55	3	418	3	NAF1	4	164050323	Missense_Mutation	SNP	T	TCGA-IK-8125-01A-11D-2253-08	92541582	164050323	27103953	14	31382											
FAT1	2195	broad.mit.edu	37	4	187521295	187521295	+	Missense_Mutation	SNP	C	C	T			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr4:187521295C>T	ENST00000441802.2	-	22	12069	c.11860G>A	c.(11860-11862)Ggc>Agc	p.G3954S		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	3954	Laminin G-like.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						CGGATGTGGCCACCAAAAAAC	0.483										HNSCC(5;0.00058)			5	41					0	0	1	0	0	T	187521295	C	T	187521295	3	4	347	1	0	0	0	0	1	0	0	0	5722	594	21	2	1930	2	FAT1	4	187521295	Missense_Mutation	SNP	C	TCGA-IK-8125-01A-11D-2253-08	23470972	187521295	3632981	15	31383											
PCDHGA9	56107	broad.mit.edu	37	5	140783264	140783264	+	Missense_Mutation	SNP	G	G	A			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr5:140783264G>A	ENST00000573521.1	+	1	745	c.745G>A	c.(745-747)Gtt>Att	p.V249I	PCDHGA5_ENST00000518069.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron	NM_018921.2|NM_032089.1	NP_061744.1|NP_114478.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GATTTACCGAGTTAAAGTCCT	0.537													4	72					0	0	1	0	0	A	140783264	G	A	140783264	3	1	347	1	0	0	0	0	1	0	0	0	11608	1029	36	2	747	2	PCDHGA9	5	140783264	Missense_Mutation	SNP	G	TCGA-IK-8125-01A-11D-2253-08		140783264	40131996	16	31384											
MAML1	9794	broad.mit.edu	37	5	179192669	179192669	+	Missense_Mutation	SNP	C	C	T			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr5:179192669C>T	ENST00000292599.3	+	2	921	c.658C>T	c.(658-660)Cct>Tct	p.P220S	MAML1_ENST00000503050.1_3'UTR	NM_014757.4	NP_055572.1	Q92585	MAML1_HUMAN	mastermind-like 1 (Drosophila)	220					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	peptide antigen binding|protein kinase binding|transcription coactivator activity			central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	36	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GAAGCAGGAGCCTGTCGAAGA	0.517													4	40					0	0	1	0	0	T	179192669	C	T	179192669	3	4	347	1	0	0	0	0	1	0	0	0	9255	739	26	2	664	2	MAML1	5	179192669	Missense_Mutation	SNP	C	TCGA-IK-8125-01A-11D-2253-08	38409405	179192669	1722591	17	31385											
FAM50B	26240	broad.mit.edu	37	6	3850550	3850550	+	Missense_Mutation	SNP	C	C	A			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr6:3850550C>A	ENST00000380274.1	+	1	931	c.505C>A	c.(505-507)Ctg>Atg	p.L169M	FAM50B_ENST00000380272.3_Missense_Mutation_p.L169M			Q9Y247	FA50B_HUMAN	family with sequence similarity 50, member B	169						nucleus				cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(3)|urinary_tract(3)	17	Ovarian(93;0.0925)	all_hematologic(90;0.108)				CCGAGAGGAGCTGCGCCAAGA	0.687													6	25					1	1	1	1	0	A	3850550	C	A	3850550	3	1	347	1	0	0	0	0	1	0	0	0	5614	796	28	4	507	4	FAM50B	6	3850550	Missense_Mutation	SNP	C	TCGA-IK-8125-01A-11D-2253-08		3850550	167264517	18	31386											
NOTCH4	4855	broad.mit.edu	37	6	32166813	32166813	+	Silent	SNP	G	G	A			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr6:32166813G>A	ENST00000375023.3	-	24	4563	c.4425C>T	c.(4423-4425)cgC>cgT	p.R1475R		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	1475	Poly-Arg.				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						CATGCTCTCGGCGTCGACGCC	0.677													32	41					0	0	1	0	0	A	32166813	G	A	32166813	2	1	347	1	0	0	0	0	0	0	0	1	10598	1190	42	2		2	NOTCH4	6	32166813	Silent	SNP	G	TCGA-IK-8125-01A-11D-2253-08	28316263	32166813	138948254	19	31387											
NOTCH4	4855	broad.mit.edu	37	6	32190325	32190325	+	Silent	SNP	C	C	T			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr6:32190325C>T	ENST00000375023.3	-	3	552	c.414G>A	c.(412-414)tcG>tcA	p.S138S		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	138	EGF-like 3.				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						GTGGGCGGCCCGAGGCCTGGA	0.647													5	57					0	0	1	0	0	T	32190325	C	T	32190325	2	4	347	1	0	0	0	0	0	0	0	1	10598	639	23	1		1	NOTCH4	6	32190325	Silent	SNP	C	TCGA-IK-8125-01A-11D-2253-08	23512	32190325	138924742	20	31388											
PNPLA1	285848	broad.mit.edu	37	6	36262065	36262065	+	Silent	SNP	C	C	A			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr6:36262065C>A	ENST00000394571.2	+	4	603	c.603C>A	c.(601-603)ccC>ccA	p.P201P	PNPLA1_ENST00000312917.5_Silent_p.P115P|PNPLA1_ENST00000388715.3_Silent_p.P106P	NM_001145717.1	NP_001139189.2	Q8N8W4	PLPL1_HUMAN	patatin-like phospholipase domain containing 1	201					lipid catabolic process		hydrolase activity			breast(1)|kidney(1)|large_intestine(4)|lung(9)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	22						ACATCTGTCCCCGGGACTGCC	0.607													22	112					9.57634e-11	9.70575e-11	1	1	0	A	36262065	C	A	36262065	2	1	347	1	0	0	0	0	0	0	0	1	12212	610	22	5		5	PNPLA1	6	36262065	Silent	SNP	C	TCGA-IK-8125-01A-11D-2253-08	4071740	36262065	134853002	21	31389											
PPP2R5D	5528	broad.mit.edu	37	6	42974286	42974286	+	Missense_Mutation	SNP	C	C	T			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr6:42974286C>T	ENST00000485511.1	+	3	370	c.191C>T	c.(190-192)cCg>cTg	p.P64L	PPP2R5D_ENST00000394110.3_Missense_Mutation_p.P64L|PPP2R5D_ENST00000461010.1_Intron|PPP2R5D_ENST00000472118.1_Missense_Mutation_p.P56L	NM_001270476.1|NM_006245.3	NP_001257405.1|NP_006236.1	Q14738	2A5D_HUMAN	protein phosphatase 2, regulatory subunit B', delta	64					nervous system development|signal transduction	cytoplasm|nucleus|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	25			Colorectal(64;0.00237)|all cancers(41;0.00411)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0664)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			AATAGCACGCCGCCCCCCACG	0.622													58	97					0	0	1	0	0	T	42974286	C	T	42974286	3	4	347	1	0	0	0	0	1	0	0	0	12444	652	23	1	201	1	PPP2R5D	6	42974286	Missense_Mutation	SNP	C	TCGA-IK-8125-01A-11D-2253-08	6712221	42974286	128140781	22	31390											
TTBK1	84630	broad.mit.edu	37	6	43251409	43251409	+	Silent	SNP	G	G	A			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr6:43251409G>A	ENST00000259750.4	+	14	3014	c.2931G>A	c.(2929-2931)gcG>gcA	p.A977A		NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	977						cell junction|cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			GGGCCCGAGCGCCCCTGGAGA	0.697													25	31					0	0	1	0	0	A	43251409	G	A	43251409	2	1	347	1	0	0	0	0	0	0	0	1	16738	1074	38	1		1	TTBK1	6	43251409	Silent	SNP	G	TCGA-IK-8125-01A-11D-2253-08	277123	43251409	127863658	23	31391											
CRIP3	401262	broad.mit.edu	37	6	43275627	43275627	+	Missense_Mutation	SNP	C	C	T			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr6:43275627C>T	ENST00000372569.3	-	3	150	c.146G>A	c.(145-147)gGg>gAg	p.G49E	CRIP3_ENST00000274990.4_Missense_Mutation_p.G49E|ZNF318_ENST00000607252.1_5'UTR	NM_206922.2	NP_996805.2	Q6Q6R5	CRIP3_HUMAN	cysteine-rich protein 3	49	LIM zinc-binding 1.					cytoplasm	zinc ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)			GTATGGCCTCCCATTGTGCTG	0.607													3	30					0	0	1	0	0	T	43275627	C	T	43275627	3	4	347	1	0	0	0	0	1	0	0	0	3899	623	22	2	492	2	CRIP3	6	43275627	Missense_Mutation	SNP	C	TCGA-IK-8125-01A-11D-2253-08	24218	43275627	127839440	24	31392											
ZNF292	23036	broad.mit.edu	37	6	87943087	87943087	+	Missense_Mutation	SNP	A	A	G			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr6:87943087A>G	ENST00000369577.3	+	5	626	c.583A>G	c.(583-585)Aga>Gga	p.R195G	ZNF292_ENST00000339907.4_Missense_Mutation_p.R190G	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	195					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		GTTGGATATGAGAATTAAACA	0.308													8	21					0	0	1	0	0	G	87943087	A	G	87943087	3	3	347	1	0	0	0	0	1	0	0	0	17883	296	11	3	601	3	ZNF292	6	87943087	Missense_Mutation	SNP	A	TCGA-IK-8125-01A-11D-2253-08	44667460	87943087	83171980	25	31393											
KIAA1147	57189	broad.mit.edu	37	7	141362626	141362626	+	Frame_Shift_Del	DEL	T	T	-			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr7:141362626delT	ENST00000536163.1	-	9	1197	c.1198delA	c.(1198-1200)atafs	p.I400fs	KIAA1147_ENST00000482493.1_Frame_Shift_Del_p.I296fs	NM_001080392.1	NP_001073861.1	A4D1U4	LCHN_HUMAN	KIAA1147	400										breast(3)|endometrium(4)|kidney(2)|large_intestine(1)|ovary(1)|skin(1)	12	Melanoma(164;0.0171)					GTCTGAAATATCCGGTTGTTT	0.502													10	3	---	---	---	---						-	141362626	T	-	141362626	7	5	347	1	0	1	0	1	0	0	0	0	8252	1435	50	0	173	0	KIAA1147	7	141362626	Frame_Shift_Del	DEL	T	TCGA-IK-8125-01A-11D-2253-08		141362626	17776037	26	31394											
RUNX1T1	862	broad.mit.edu	37	8	92972658	92972658	+	Missense_Mutation	SNP	C	C	G			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr8:92972658C>G	ENST00000523629.1	-	12	2081	c.1627G>C	c.(1627-1629)Gac>Cac	p.D543H	RUNX1T1_ENST00000422361.2_Missense_Mutation_p.D506H|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.D506H|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.D554H|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.D516H|RUNX1T1_ENST00000518844.1_Missense_Mutation_p.D516H|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.D543H|RUNX1T1_ENST00000520724.1_Missense_Mutation_p.D506H	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	543					generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			TTCTCCCAGTCTTTGTGCTGG	0.567													9	36					0	0	1	0	0	G	92972658	C	G	92972658	3	3	347	1	0	0	0	0	1	0	0	0	13799	913	32	4	191	4	RUNX1T1	8	92972658	Missense_Mutation	SNP	C	TCGA-IK-8125-01A-11D-2253-08		92972658	53391364	27	31395											
PLEC	5339	broad.mit.edu	37	8	144995732	144995732	+	Missense_Mutation	SNP	C	C	T			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr8:144995732C>T	ENST00000322810.4	-	32	8837	c.8668G>A	c.(8668-8670)Gct>Act	p.A2890T	PLEC_ENST00000398774.2_Missense_Mutation_p.A2721T|PLEC_ENST00000436759.2_Missense_Mutation_p.A2780T|PLEC_ENST00000345136.3_Missense_Mutation_p.A2753T|PLEC_ENST00000357649.2_Missense_Mutation_p.A2757T|PLEC_ENST00000527096.1_Missense_Mutation_p.A2776T|PLEC_ENST00000354589.3_Missense_Mutation_p.A2753T|PLEC_ENST00000354958.2_Missense_Mutation_p.A2731T|PLEC_ENST00000356346.3_Missense_Mutation_p.A2739T	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2890	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						TCCTTCACAGCCTCGTTGACG	0.687													26	36					0	0	1	0	0	T	144995732	C	T	144995732	3	4	347	1	0	0	0	0	1	0	0	0	12100	739	26	2	5390	2	PLEC	8	144995732	Missense_Mutation	SNP	C	TCGA-IK-8125-01A-11D-2253-08	52023074	144995732	1368290	28	31396											
SPINK4	27290	broad.mit.edu	37	9	33221060	33221060	+	Silent	SNP	G	G	A			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr9:33221060G>A	ENST00000379725.1	+	2	206	c.84G>A	c.(82-84)tcG>tcA	p.S28S	SPINK4_ENST00000379723.1_Silent_p.S28S			O60575	ISK4_HUMAN	serine peptidase inhibitor, Kazal type 4	0						extracellular region	serine-type endopeptidase inhibitor activity			lung(1)	1			LUSC - Lung squamous cell carcinoma(29;0.00506)			GGGATGCTTCGCACACAGACC	0.517													4	42					0	0	1	0	0	A	33221060	G	A	33221060	2	1	347	1	0	0	0	0	0	0	0	1	15117	1102	38	1		1	SPINK4	9	33221060	Silent	SNP	G	TCGA-IK-8125-01A-11D-2253-08		33221060	107992371	29	31397											
GNE	10020	broad.mit.edu	37	9	36249251	36249251	+	Silent	SNP	G	G	A	rs147290887		TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr9:36249251G>A	ENST00000396594.3	-	2	306	c.195C>T	c.(193-195)acC>acT	p.T65T	GNE_ENST00000377902.5_Silent_p.T34T|GNE_ENST00000543356.2_Intron|GNE_ENST00000539208.1_Intron|GNE_ENST00000539815.1_Silent_p.T34T|GNE_ENST00000447283.2_Silent_p.T34T	NM_001128227.2	NP_001121699.1	Q9Y223	GLCNE_HUMAN	glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase	34					cell adhesion|lipopolysaccharide biosynthetic process|N-acetylneuraminate metabolic process|UDP-N-acetylglucosamine metabolic process		ATP binding|N-acylmannosamine kinase activity|UDP-N-acetylglucosamine 2-epimerase activity			endometrium(8)|kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			STAD - Stomach adenocarcinoma(86;0.228)			ACTCAGGTTCGGTTTTAATGC	0.408													8	52					0	0	1	0	0	A	36249251	G	A	36249251	2	1	347	1	0	0	0	0	0	0	0	1	6564	1103	39	1		1	GNE	9	36249251	Silent	SNP	G	TCGA-IK-8125-01A-11D-2253-08	3028191	36249251	104964180	30	31398											
FPGS	2356	broad.mit.edu	37	9	130570869	130570869	+	Silent	SNP	C	C	G			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr9:130570869C>G	ENST00000373225.3	+	10	914	c.705C>G	c.(703-705)gcC>gcG	p.A235A	FPGS_ENST00000373245.1_Intron|FPGS_ENST00000373247.2_Silent_p.A285A|FPGS_ENST00000393706.2_Silent_p.A259A|FPGS_ENST00000460181.1_3'UTR	NM_001018078.1	NP_001018088.1	Q05932	FOLC_HUMAN	folylpolyglutamate synthase	285					folic acid metabolic process|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|one-carbon metabolic process	cytosol|mitochondrial matrix	ATP binding|tetrahydrofolylpolyglutamate synthase activity			endometrium(2)|kidney(1)|lung(3)|ovary(1)	7					L-Glutamic Acid(DB00142)	TGCTGGAGGCCCTCGAGGAAG	0.687													17	20					0	0	1	0	0	G	130570869	C	G	130570869	2	3	347	1	0	0	0	0	0	0	0	1	6070	610	22	5		5	FPGS	9	130570869	Silent	SNP	C	TCGA-IK-8125-01A-11D-2253-08	94321618	130570869	10642562	31	31399											
NOTCH1	4851	broad.mit.edu	37	9	139412597	139412597	+	Missense_Mutation	SNP	C	C	A			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr9:139412597C>A	ENST00000277541.6	-	7	1322	c.1247G>T	c.(1246-1248)tGc>tTc	p.C416F		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	416	EGF-like 11; calcium-binding (Potential).				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		ACCCAGCGAGCACTCATCCAC	0.672			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			6	6					5.68852e-11	5.84437e-11	1	1	0	A	139412597	C	A	139412597	3	1	347	1	0	0	0	0	1	0	0	0	10594	710	25	5	6532	5	NOTCH1	9	139412597	Missense_Mutation	SNP	C	TCGA-IK-8125-01A-11D-2253-08	8841728	139412597	1800834	32	31400											
KIAA1217	56243	broad.mit.edu	37	10	24832988	24832988	+	Nonsense_Mutation	SNP	A	A	T			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr10:24832988A>T	ENST00000376451.2	+	14	4098	c.3838A>T	c.(3838-3840)Aag>Tag	p.K1280*	KIAA1217_ENST00000396446.1_Intron|KIAA1217_ENST00000396445.1_Intron|KIAA1217_ENST00000458595.1_Intron|KIAA1217_ENST00000376454.3_Nonsense_Mutation_p.K1597*|KIAA1217_ENST00000376462.1_Intron|KIAA1217_ENST00000307544.6_Intron|KIAA1217_ENST00000376452.3_Intron			Q5T5P2	SKT_HUMAN	KIAA1217	1597					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						TAAAACAGGGAAGAAGACTTT	0.463													11	91					0	0	1	0	0	T	24832988	A	T	24832988	4	4	347	1	0	0	0	0	0	1	0	0	8258	247	9	5	4863	5	KIAA1217	10	24832988	Nonsense_Mutation	SNP	A	TCGA-IK-8125-01A-11D-2253-08		24832988	110701759	33	31401											
HELLS	3070	broad.mit.edu	37	10	96352241	96352241	+	Silent	SNP	G	G	A			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr10:96352241G>A	ENST00000348459.5	+	17	2046	c.1941G>A	c.(1939-1941)ggG>ggA	p.G647G	HELLS_ENST00000394036.1_3'UTR|HELLS_ENST00000394045.1_Silent_p.G549G|HELLS_ENST00000371332.4_Silent_p.G693G|RP11-119K6.6_ENST00000432120.1_RNA|HELLS_ENST00000239026.6_3'UTR	NM_018063.3	NP_060533.2	Q9NRZ9	HELLS_HUMAN	helicase, lymphoid-specific	647	Helicase C-terminal.				cell division|centromeric heterochromatin formation|lymphocyte proliferation|maintenance of DNA methylation|methylation-dependent chromatin silencing|mitosis|transcription, DNA-dependent	centromeric heterochromatin|nucleus	ATP binding|DNA binding|helicase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22		Colorectal(252;0.0429)		all cancers(201;2.13e-05)		GGCTTGATGGGTCCATGTCTT	0.343													8	31					0	0	1	0	0	A	96352241	G	A	96352241	2	1	347	1	0	0	0	0	0	0	0	1	7087	1248	44	2		2	HELLS	10	96352241	Silent	SNP	G	TCGA-IK-8125-01A-11D-2253-08	71519253	96352241	39182506	34	31402											
SLIT1	6585	broad.mit.edu	37	10	98764460	98764460	+	Missense_Mutation	SNP	C	C	T			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr10:98764460C>T	ENST00000266058.4	-	33	3945	c.3700G>A	c.(3700-3702)Gcc>Acc	p.A1234T	ARHGAP19-SLIT1_ENST00000453547.2_3'UTR|SLIT1_ENST00000371070.4_Missense_Mutation_p.A1234T	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	1234	Laminin G-like.				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)		CTGTAGATGGCAGAGCTGGGG	0.602													14	49					0	0	1	0	0	T	98764460	C	T	98764460	3	4	347	1	0	0	0	0	1	0	0	0	14793	710	25	2	924	2	SLIT1	10	98764460	Missense_Mutation	SNP	C	TCGA-IK-8125-01A-11D-2253-08	2412219	98764460	36770287	35	31403											
DIXDC1	85458	broad.mit.edu	37	11	111835363	111835363	+	Missense_Mutation	SNP	C	C	T			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr11:111835363C>T	ENST00000440460.2	+	2	448	c.151C>T	c.(151-153)Cgg>Tgg	p.R51W	DIXDC1_ENST00000389821.4_3'UTR|DIXDC1_ENST00000531396.1_Missense_Mutation_p.R51W|DIXDC1_ENST00000529225.1_Missense_Mutation_p.R50W	NM_001037954.2	NP_001033043.1	Q155Q3	DIXC1_HUMAN	DIX domain containing 1	51	CH.				multicellular organismal development|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytosol|focal adhesion	actin binding|gamma-tubulin binding|signal transducer activity			cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	17		all_cancers(61;7.58e-15)|all_epithelial(67;5.42e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;2.99e-07)|BRCA - Breast invasive adenocarcinoma(274;6.72e-07)|all cancers(92;6.25e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0548)		ACAAGATCTCCGGGATGGGGT	0.517													7	9					0	0	1	0	0	T	111835363	C	T	111835363	3	4	347	1	0	0	0	0	1	0	0	0	4569	643	23	1	157	1	DIXDC1	11	111835363	Missense_Mutation	SNP	C	TCGA-IK-8125-01A-11D-2253-08		111835363	23171153	36	31404											
TTC12	54970	broad.mit.edu	37	11	113215006	113215006	+	Missense_Mutation	SNP	G	G	A			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr11:113215006G>A	ENST00000393020.1	+	13	1403	c.998G>A	c.(997-999)cGt>cAt	p.R333H	TTC12_ENST00000314756.3_Missense_Mutation_p.R333H|TTC12_ENST00000483239.2_Missense_Mutation_p.R339H|TTC12_ENST00000478125.1_3'UTR|TTC12_ENST00000529221.1_Missense_Mutation_p.R333H			Q9H892	TTC12_HUMAN	tetratricopeptide repeat domain 12	333							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		all_cancers(61;2.73e-16)|all_epithelial(67;8.64e-10)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.183)|Renal(330;0.187)		BRCA - Breast invasive adenocarcinoma(274;5.3e-06)|Epithelial(105;8.37e-05)|all cancers(92;0.000694)		GAAAACCAGCGTGTGCTAGTG	0.532													69	113					0	0	1	0	0	A	113215006	G	A	113215006	3	1	347	1	0	0	0	0	1	0	0	0	16741	1145	40	1	1044	1	TTC12	11	113215006	Missense_Mutation	SNP	G	TCGA-IK-8125-01A-11D-2253-08	1379643	113215006	21791510	37	31405											
GLB1L2	89944	broad.mit.edu	37	11	134228963	134228988	+	Frame_Shift_Del	DEL	GACCGTGGCATTGTGGAACTGCTCCT	GACCGTGGCATTGTGGAACTGCTCCT	-			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr11:134228963_134228988delGACCGTGGCATTGTGGAACTGCTCCT	ENST00000535456.2	+	7	849_874	c.661_686delGACCGTGGCATTGTGGAACTGCTCCT	c.(661-687)gaccgtggcattgtggaactgctcctgfs	p.DRGIVELLL221fs	GLB1L2_ENST00000339772.7_Frame_Shift_Del_p.DRGIVELLL221fs|GLB1L2_ENST00000389881.3_Frame_Shift_Del_p.DRGIVELLL221fs|GLB1L2_ENST00000529077.1_3'UTR	NM_138342.3	NP_612351.2	Q8IW92	GLBL2_HUMAN	galactosidase, beta 1-like 2	221					carbohydrate metabolic process	extracellular region	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds	p.L228I(1)|p.V225L(1)|p.R222H(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41	all_hematologic(175;0.127)	all_cancers(12;2.85e-18)|all_epithelial(12;1.21e-12)|all_lung(97;0.000276)|Lung NSC(97;0.000518)|Breast(109;0.00122)|Medulloblastoma(222;0.0399)|all_neural(223;0.0412)|Esophageal squamous(93;0.0844)		Epithelial(10;1.37e-11)|all cancers(11;2.2e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000885)|Lung(977;0.223)		GGCACTGGAGGACCGTGGCATTGTGGAACTGCTCCTGACTTCAGAC	0.606													16	204	---	---	---	---						-	134228988	GACCGTGGCATTGTGGAACTGCTCCT	-	134228963	7	5	347	1	0	1	0	1	0	0	0	0	6471	1174	41	0	687	0	GLB1L2	11	134228963	Frame_Shift_Del	DEL	GACCGTGGCATTGTGGAACTGCTCCT	TCGA-IK-8125-01A-11D-2253-08	21013957	134228963	777553	38	31406											
MAP3K12	7786	broad.mit.edu	37	12	53877509	53877509	+	Splice_Site	SNP	T	T	A			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr12:53877509T>A	ENST00000267079.2	-	10	1485		c.e10-2		MAP3K12_ENST00000547035.1_Splice_Site|MAP3K12_ENST00000547488.1_Splice_Site	NM_001193511.1|NM_006301.3	NP_001180440.1|NP_006292.3	Q12852	M3K12_HUMAN	mitogen-activated protein kinase kinase kinase 12						histone phosphorylation|JNK cascade|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation	cytosol|membrane fraction|plasma membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding			NS(2)|breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	37						AGGGCGTGTCTGCAACGGGCA	0.507													8	50					0	0	1	0	0	A	53877509	T	A	53877509	5	1	347	1	0	0	0	0	0	0	1	0	9296	1594	55	5	1345	5	MAP3K12	12	53877509	Splice_Site	SNP	T	TCGA-IK-8125-01A-11D-2253-08		53877509	79974386	39	31407											
SMUG1	23583	broad.mit.edu	37	12	54577582	54577582	+	Missense_Mutation	SNP	G	G	A	rs149806805	byFrequency	TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr12:54577582G>A	ENST00000505128.1	-	3	265	c.143C>T	c.(142-144)tCg>tTg	p.S48L	SMUG1_ENST00000506595.1_Missense_Mutation_p.S48L|SMUG1_ENST00000514196.1_Missense_Mutation_p.S48L|SMUG1_ENST00000508394.2_Missense_Mutation_p.S48L|SMUG1_ENST00000505662.1_5'UTR|SMUG1_ENST00000243112.5_Missense_Mutation_p.S48L|SMUG1_ENST00000401977.2_Missense_Mutation_p.S48L|SMUG1_ENST00000513838.1_Missense_Mutation_p.S48L|SMUG1_ENST00000514685.1_Missense_Mutation_p.S48L|SMUG1_ENST00000337581.3_Missense_Mutation_p.S48L			Q53HV7	SMUG1_HUMAN	single-strand-selective monofunctional uracil-DNA glycosylase 1	48				S -> L (in Ref. 3; BAC03670).	depyrimidination	nucleolus|nucleoplasm	DNA binding|protein binding|single-strand selective uracil DNA N-glycosylase activity			kidney(1)|large_intestine(4)|lung(1)	6						CACAGGCTCCGAAAACTGCAG	0.597								Base excision repair (BER), DNA glycosylases					4	43					0	0	1	0	0	A	54577582	G	A	54577582	3	1	347	1	0	0	0	0	1	0	0	0	14872	1059	37	1	677	1	SMUG1	12	54577582	Missense_Mutation	SNP	G	TCGA-IK-8125-01A-11D-2253-08	700073	54577582	79274313	40	31408											
TBX5	6910	broad.mit.edu	37	12	114793348	114793348	+	Missense_Mutation	SNP	C	C	T			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr12:114793348C>T	ENST00000310346.4	-	9	2212	c.1546G>A	c.(1546-1548)Gac>Aac	p.D516N	TBX5_ENST00000349716.5_Missense_Mutation_p.D466N|TBX5_ENST00000405440.2_Missense_Mutation_p.D516N	NM_000192.3	NP_000183.2	Q99593	TBX5_HUMAN	T-box 5	516				PRTLSPHQYHSVHGVGMVPEWSDNS -> QGLYPLISTTLC TELAWCRVERQ (in Ref. 1; CAA70592).	cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		TAGCTATTGTCGCTCCACTCT	0.517													7	45					0	0	1	0	0	T	114793348	C	T	114793348	3	4	347	1	0	0	0	0	1	0	0	0	15721	884	31	1	14	1	TBX5	12	114793348	Missense_Mutation	SNP	C	TCGA-IK-8125-01A-11D-2253-08	60215766	114793348	19058547	41	31409											
TRPM1	4308	broad.mit.edu	37	15	31359319	31359319	+	Missense_Mutation	SNP	C	C	T			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr15:31359319C>T	ENST00000542188.1	-	5	929	c.616G>A	c.(616-618)Gga>Aga	p.G206R	TRPM1_ENST00000397795.2_Missense_Mutation_p.G167R|TRPM1_ENST00000256552.6_Missense_Mutation_p.G189R	NM_001252020.1	NP_001238949.1	Q7Z4N2	TRPM1_HUMAN	transient receptor potential cation channel, subfamily M, member 1	167					cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		GGAGCAATTCCTATAGCACAA	0.453													44	57					0	0	1	0	0	T	31359319	C	T	31359319	3	4	347	1	0	0	0	0	1	0	0	0	16646	690	24	2	4404	2	TRPM1	15	31359319	Missense_Mutation	SNP	C	TCGA-IK-8125-01A-11D-2253-08		31359319	71172073	42	31410											
SPPL2A	84888	broad.mit.edu	37	15	51017471	51017471	+	Missense_Mutation	SNP	C	C	G			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr15:51017471C>G	ENST00000261854.5	-	12	1470	c.1196G>C	c.(1195-1197)aGt>aCt	p.S399T	SPPL2A_ENST00000559293.1_5'UTR	NM_032802.3	NP_116191.2	Q8TCT8	PSL2_HUMAN	signal peptide peptidase like 2A	399						integral to membrane	aspartic-type endopeptidase activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	15				all cancers(107;0.000712)|GBM - Glioblastoma multiforme(94;0.00314)		GAGGCACACACTCATTACTGA	0.313													36	79					0	0	1	0	0	G	51017471	C	G	51017471	3	3	347	1	0	0	0	0	1	0	0	0	15144	565	20	4	382	4	SPPL2A	15	51017471	Missense_Mutation	SNP	C	TCGA-IK-8125-01A-11D-2253-08	19658152	51017471	51513921	43	31411											
UNC13C	440279	broad.mit.edu	37	15	54825250	54825250	+	Frame_Shift_Del	DEL	T	T	-			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr15:54825250delT	ENST00000545554.1	+	25	5682	c.5682delT	c.(5680-5682)gatfs	p.D1894fs	UNC13C_ENST00000260323.11_Frame_Shift_Del_p.D1894fs|UNC13C_ENST00000537900.1_Frame_Shift_Del_p.D1892fs			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1894	MHD2.				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		CTCTTATGGATTTTTTGGACA	0.343													2	4	---	---	---	---						-	54825250	T	-	54825250	7	5	347	1	0	1	0	1	0	0	0	0	17046	1490	52	0	5776	0	UNC13C	15	54825250	Frame_Shift_Del	DEL	T	TCGA-IK-8125-01A-11D-2253-08	3807779	54825250	47706142	44	31412											
TPM1	7168	broad.mit.edu	37	15	63336271	63336271	+	Missense_Mutation	SNP	G	G	A	rs104894505		TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr15:63336271G>A	ENST00000357980.4	+	3	365	c.286G>A	c.(286-288)Gaa>Aaa	p.E96K	TPM1_ENST00000267996.7_Intron|TPM1_ENST00000403994.3_Missense_Mutation_p.E54K|TPM1_ENST00000358278.3_Missense_Mutation_p.E54K|TPM1_ENST00000560445.1_Missense_Mutation_p.E54K|TPM1_ENST00000559556.1_Missense_Mutation_p.E54K|TPM1_ENST00000288398.6_Missense_Mutation_p.E54K|TPM1_ENST00000559397.1_Intron			P09493	TPM1_HUMAN	tropomyosin 1 (alpha)	54					cardiac muscle contraction|cellular component movement|cellular response to reactive oxygen species|muscle filament sliding|negative regulation of cell migration|positive regulation of ATPase activity|positive regulation of cell adhesion|positive regulation of heart rate by epinephrine|positive regulation of stress fiber assembly|regulation of muscle contraction|ruffle organization|sarcomere organization|ventricular cardiac muscle tissue morphogenesis|wound healing	bleb|cytosol|muscle thin filament tropomyosin|ruffle membrane|stress fiber	actin binding|structural constituent of cytoskeleton|structural constituent of muscle			endometrium(1)|large_intestine(1)|lung(2)	4						CAAGGGCACCGAAGATGAACT	0.562													9	24					0	0	1	0	0	A	63336271	G	A	63336271	3	1	347	1	0	0	0	0	1	0	0	0	16466	1059	37	1	296	1	TPM1	15	63336271	Missense_Mutation	SNP	G	TCGA-IK-8125-01A-11D-2253-08	8511021	63336271	39195121	45	31413											
NEO1	4756	broad.mit.edu	37	15	73428355	73428355	+	Missense_Mutation	SNP	G	G	C			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr15:73428355G>C	ENST00000339362.5	+	6	1449	c.1002G>C	c.(1000-1002)gaG>gaC	p.E334D	NEO1_ENST00000560262.1_Missense_Mutation_p.E334D|NEO1_ENST00000261908.6_Missense_Mutation_p.E334D|NEO1_ENST00000558964.1_Missense_Mutation_p.E334D			Q92859	NEO1_HUMAN	neogenin 1	334	Ig-like C2-type 3.				axon guidance|cell adhesion|positive regulation of muscle cell differentiation	Golgi apparatus|integral to plasma membrane|nucleus				NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	57						CTCAAGCAGAGCTTACAGTGC	0.373													11	23					0	0	1	0	0	C	73428355	G	C	73428355	3	2	347	1	0	0	0	0	1	0	0	0	10383	962	34	4	1020	4	NEO1	15	73428355	Missense_Mutation	SNP	G	TCGA-IK-8125-01A-11D-2253-08	10092084	73428355	29103037	46	31414											
SPATA22	84690	broad.mit.edu	37	17	3366004	3366004	+	Missense_Mutation	SNP	G	G	A			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr17:3366004G>A	ENST00000573128.1	-	4	713	c.230C>T	c.(229-231)aCc>aTc	p.T77I	SPATA22_ENST00000268981.5_Missense_Mutation_p.T77I|SPATA22_ENST00000575375.1_Missense_Mutation_p.T77I|SPATA22_ENST00000572969.1_Missense_Mutation_p.T77I|SPATA22_ENST00000541913.1_Missense_Mutation_p.T61I|SPATA22_ENST00000355380.4_Missense_Mutation_p.T34I|SPATA22_ENST00000397168.3_Missense_Mutation_p.T77I			Q8NHS9	SPT22_HUMAN	spermatogenesis associated 22	77										breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|skin(2)	19						CACATACCCGGTGTCCACTGT	0.363													5	113					0	0	1	0	0	A	3366004	G	A	3366004	3	1	347	1	0	0	0	0	1	0	0	0	15064	1261	44	2	885	2	SPATA22	17	3366004	Missense_Mutation	SNP	G	TCGA-IK-8125-01A-11D-2253-08		3366004	77829206	47	31415											
SMAD2	4087	broad.mit.edu	37	18	45422914	45422914	+	Missense_Mutation	SNP	T	T	C			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr18:45422914T>C	ENST00000402690.2	-	2	608	c.214A>G	c.(214-216)Act>Gct	p.T72A	SMAD2_ENST00000262160.6_Missense_Mutation_p.T72A|SMAD2_ENST00000586040.1_Missense_Mutation_p.T72A|SMAD2_ENST00000356825.4_Missense_Mutation_p.T72A|SMAD2_ENST00000591214.1_Missense_Mutation_p.T72A	NM_001003652.3	NP_001003652.1	Q15796	SMAD2_HUMAN	SMAD family member 2	72	MH1.				anterior/posterior pattern formation|cell fate commitment|common-partner SMAD protein phosphorylation|intracellular signal transduction|mesoderm formation|negative regulation of transcription, DNA-dependent|palate development|paraxial mesoderm morphogenesis|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|primary miRNA processing|regulation of binding|regulation of transforming growth factor beta receptor signaling pathway|response to cholesterol|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway|zygotic specification of dorsal/ventral axis	activin responsive factor complex|cytosol	activating transcription factor binding|co-SMAD binding|double-stranded DNA binding|I-SMAD binding|R-SMAD binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|type I transforming growth factor beta receptor binding|ubiquitin protein ligase binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(21)|liver(1)|lung(8)|prostate(2)|urinary_tract(1)	43						ACACATTTAGTATTACAGTTT	0.368													6	70					0	0	1	0	0	C	45422914	T	C	45422914	3	2	347	1	0	0	0	0	1	0	0	0	14812	1638	57	3	1229	3	SMAD2	18	45422914	Missense_Mutation	SNP	T	TCGA-IK-8125-01A-11D-2253-08		45422914	32654334	48	31416											
DAPK3	1613	broad.mit.edu	37	19	3964722	3964722	+	Silent	SNP	C	C	T			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr19:3964722C>T	ENST00000545797.2	-	3	573	c.330G>A	c.(328-330)tcG>tcA	p.S110S	DAPK3_ENST00000301264.3_Silent_p.S110S			O43293	DAPK3_HUMAN	death-associated protein kinase 3	110	Protein kinase.				apoptosis|chromatin modification|induction of apoptosis|intracellular protein kinase cascade	cytoplasm|PML body	ATP binding|leucine zipper domain binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(2)	21		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)		CCTCCGTCAGCGACTCCTTCT	0.592													17	110					0	0	1	0	0	T	3964722	C	T	3964722	2	4	347	1	0	0	0	0	0	0	0	1	4261	755	27	1		1	DAPK3	19	3964722	Silent	SNP	C	TCGA-IK-8125-01A-11D-2253-08		3964722	55164261	49	31417											
C3	718	broad.mit.edu	37	19	6718386	6718386	+	Missense_Mutation	SNP	C	C	T			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr19:6718386C>T	ENST00000245907.6	-	3	397	c.305G>A	c.(304-306)cGc>cAc	p.R102H		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	102			R -> G (in allele C3F; associated with ARMD9; dbSNP:rs2230199).		complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		GAACTTGTTGCGCCCCTTTTC	0.607													9	122					0	0	1	0	0	T	6718386	C	T	6718386	3	4	347	1	0	0	0	0	1	0	0	0	2218	768	27	1	4842	1	C3	19	6718386	Missense_Mutation	SNP	C	TCGA-IK-8125-01A-11D-2253-08	2753664	6718386	52410597	50	31418											
ZNF878	729747	broad.mit.edu	37	19	12154973	12154973	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr19:12154973G>A	ENST00000602107.1	-	5	1383	c.1384C>T	c.(1384-1386)Cga>Tga	p.R462*	CTD-2006C1.2_ENST00000591898.1_RNA|CTD-2006C1.2_ENST00000591838.1_RNA|ZNF878_ENST00000547628.1_Nonsense_Mutation_p.R415*|CTD-2006C1.2_ENST00000476474.1_RNA|CTD-2006C1.10_ENST00000547473.1_Intron			C9JN71	ZN878_HUMAN	zinc finger protein 878	415					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						GTGTGAGTTCGTATGTGCTTT	0.433													11	29					0	0	1	0	0	A	12154973	G	A	12154973	4	1	347	1	0	0	0	0	0	1	0	0	18239	1153	40	1	356	1	ZNF878	19	12154973	Nonsense_Mutation	SNP	G	TCGA-IK-8125-01A-11D-2253-08	5436587	12154973	46974010	51	31419											
NOTCH3	4854	broad.mit.edu	37	19	15299837	15299837	+	Silent	SNP	G	G	A			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr19:15299837G>A	ENST00000263388.2	-	8	1416	c.1341C>T	c.(1339-1341)ctC>ctT	p.L447L		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	447	EGF-like 11; calcium-binding (Potential).				Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			CTATGCGGTCGAGGCACGTGG	0.667													7	31					0	0	1	0	0	A	15299837	G	A	15299837	2	1	347	1	0	0	0	0	0	0	0	1	10597	1045	37	1		1	NOTCH3	19	15299837	Silent	SNP	G	TCGA-IK-8125-01A-11D-2253-08	3144864	15299837	43829146	52	31420											
CIC	23152	broad.mit.edu	37	19	42797750	42797750	+	Frame_Shift_Del	DEL	A	A	-			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr19:42797750delA	ENST00000572681.2	+	17	6591	c.6523delA	c.(6523-6525)aaafs	p.K2175fs	CIC_ENST00000575354.2_Frame_Shift_Del_p.K1268fs|CIC_ENST00000160740.3_Frame_Shift_Del_p.K1266fs			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	1268					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CCAGGCCAGCAAATTCCCCAG	0.637			"Mis, F, S"		oligodendroglioma								25	21	---	---	---	---						-	42797750	A	-	42797750	7	5	347	1	0	1	0	1	0	0	0	0	3446	131	5	0	3864	0	CIC	19	42797750	Frame_Shift_Del	DEL	A	TCGA-IK-8125-01A-11D-2253-08	27497913	42797750	16331233	53	31421											
ZNF223	7766	broad.mit.edu	37	19	44571252	44571252	+	Missense_Mutation	SNP	G	G	A			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr19:44571252G>A	ENST00000591793.1	+	7	1684	c.1601G>A	c.(1600-1602)cGa>cAa	p.R534Q	ZNF223_ENST00000434772.3_Missense_Mutation_p.R424Q			Q9UK11	ZN223_HUMAN	zinc finger protein 223	424					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18		Prostate(69;0.0352)				CTCCATTGCCGAAAAAAACCA	0.413													3	42					0	0	1	0	0	A	44571252	G	A	44571252	3	1	347	1	0	0	0	0	1	0	0	0	17835	1058	37	1	1285	1	ZNF223	19	44571252	Missense_Mutation	SNP	G	TCGA-IK-8125-01A-11D-2253-08	1773502	44571252	14557731	54	31422											
TEAD2	8463	broad.mit.edu	37	19	49845721	49845721	+	Missense_Mutation	SNP	C	C	T			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr19:49845721C>T	ENST00000377214.4	-	10	1575	c.1213G>A	c.(1213-1215)Gtc>Atc	p.V405I	TEAD2_ENST00000593945.1_Missense_Mutation_p.V406I|TEAD2_ENST00000539846.1_Missense_Mutation_p.V274I|TEAD2_ENST00000601519.1_Missense_Mutation_p.V405I|TEAD2_ENST00000311227.2_Missense_Mutation_p.V402I|TEAD2_ENST00000598810.1_Missense_Mutation_p.V406I			Q15562	TEAD2_HUMAN	TEA domain family member 2	402	Transcriptional activation (Potential).				hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	29		all_lung(116;7.65e-05)|Lung NSC(112;0.000132)|all_neural(266;0.0506)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00093)|GBM - Glioblastoma multiforme(486;0.0467)		TTTTCCAGGACGCTGTTCATC	0.572													26	30					0	0	1	0	0	T	49845721	C	T	49845721	3	4	347	1	0	0	0	0	1	0	0	0	15798	536	19	1	147	1	TEAD2	19	49845721	Missense_Mutation	SNP	C	TCGA-IK-8125-01A-11D-2253-08	5274469	49845721	9283262	55	31423											
U2AF2	11338	broad.mit.edu	37	19	56175034	56175034	+	Missense_Mutation	SNP	G	G	C			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr19:56175034G>C	ENST00000450554.2	+	7	1625	c.666G>C	c.(664-666)caG>caC	p.Q222H	CTD-2537I9.12_ENST00000585940.1_RNA|U2AF2_ENST00000308924.4_Missense_Mutation_p.Q222H|CTD-2537I9.12_ENST00000589456.1_RNA|U2AF2_ENST00000590551.1_Missense_Mutation_p.Q58H	NM_001012478.1|NM_007279.2	NP_001012496.1|NP_009210.1	P26368	U2AF2_HUMAN	U2 small nuclear RNA auxiliary factor 2	222	RRM 1.				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	nucleoplasm|spliceosomal complex	enzyme binding|nucleotide binding|RNA binding			biliary_tract(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(2)	21		Colorectal(82;0.00244)|Ovarian(87;0.133)	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)		TCCAGGGCCAGTCACTAAAGA	0.567													10	95					0	0	1	0	0	C	56175034	G	C	56175034	3	2	347	1	0	0	0	0	1	0	0	0	16884	1020	36	4	692	4	U2AF2	19	56175034	Missense_Mutation	SNP	G	TCGA-IK-8125-01A-11D-2253-08	6329313	56175034	2953949	56	31424											
COL18A1	80781	broad.mit.edu	37	21	46909433	46909433	+	Missense_Mutation	SNP	A	A	G			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr21:46909433A>G	ENST00000359759.4	+	18	3223	c.3202A>G	c.(3202-3204)Aag>Gag	p.K1068E	COL18A1_ENST00000400337.2_Missense_Mutation_p.K653E|COL18A1_ENST00000355480.5_Missense_Mutation_p.K833E			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	1068	Triple-helical region 4 (COL4).				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		GCCGGGGGCGAAGGTAAGCGC	0.706													10	10					0	0	1	0	0	G	46909433	A	G	46909433	3	3	347	1	0	0	0	0	1	0	0	0	3698	247	9	3	3386	3	COL18A1	21	46909433	Missense_Mutation	SNP	A	TCGA-IK-8125-01A-11D-2253-08		46909433	1220462	57	31425											
PARVB	29780	broad.mit.edu	37	22	44489821	44489821	+	Silent	SNP	G	G	A			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr22:44489821G>A	ENST00000338758.7	+	2	189	c.126G>A	c.(124-126)caG>caA	p.Q42Q	PARVB_ENST00000477795.1_3'UTR|PARVB_ENST00000406477.3_Silent_p.Q75Q|PARVB_ENST00000404989.1_Silent_p.Q5Q	NM_013327.4	NP_037459.2	Q9HBI1	PARVB_HUMAN	parvin, beta						cell adhesion|cell junction assembly	cytoskeleton|cytosol|focal adhesion	actin binding			NS(1)|breast(1)|endometrium(3)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	25		Ovarian(80;0.0246)|all_neural(38;0.0423)				GTGACCTGCAGGAAGAAGGCA	0.547													42	84					0	0	1	0	0	A	44489821	G	A	44489821	2	1	347	1	0	0	0	0	0	0	0	1	11516	991	35	2		2	PARVB	22	44489821	Silent	SNP	G	TCGA-IK-8125-01A-11D-2253-08		44489821	6814745	58	31426											
FAM47C	442444	broad.mit.edu	37	X	37028425	37028425	+	Missense_Mutation	SNP	A	A	G	rs145580328	byFrequency	TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chrX:37028425A>G	ENST00000358047.3	+	1	1994	c.1942A>G	c.(1942-1944)Aat>Gat	p.N648D		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	648								p.N648D(7)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						GGAGCCTCCCAATACTGGAGT	0.642													4	110					0	0	1	0	0	G	37028425	A	G	37028425	3	3	347	1	0	0	0	0	1	0	0	0	5607	130	5	3	1944	3	FAM47C	23	37028425	Missense_Mutation	SNP	A	TCGA-IK-8125-01A-11D-2253-08		37028425	118242135	59	31427											
FTSJ1	24140	broad.mit.edu	37	X	48339829	48339829	+	Missense_Mutation	SNP	G	G	T			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chrX:48339829G>T	ENST00000019019.2	+	9	913	c.484G>T	c.(484-486)Gat>Tat	p.D162Y	FTSJ1_ENST00000348411.2_Missense_Mutation_p.D162Y|FTSJ1_ENST00000456787.1_Missense_Mutation_p.D162Y|FTSJ1_ENST00000396894.4_Missense_Mutation_p.D25Y|FTSJ1_ENST00000496365.1_3'UTR	NM_177439.1	NP_803188.1	Q9UET6	RRMJ1_HUMAN	FtsJ RNA methyltransferase homolog 1 (E. coli)	162					RNA methylation|rRNA processing		methyltransferase activity|nucleic acid binding			breast(1)|central_nervous_system(1)|lung(4)|skin(1)	7						CCGAGGCCGGGATGTGACGCT	0.602													29	8					3.99451e-17	4.16095e-17	1	1	0	T	48339829	G	T	48339829	3	4	347	1	0	0	0	0	1	0	0	0	6122	1174	41	5	510	5	FTSJ1	23	48339829	Missense_Mutation	SNP	G	TCGA-IK-8125-01A-11D-2253-08	11311404	48339829	106930731	60	31428											
LHFPL1	340596	broad.mit.edu	37	X	111914414	111914414	+	Missense_Mutation	SNP	G	G	A			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chrX:111914414G>A	ENST00000371968.3	-	2	444	c.205C>T	c.(205-207)Cgc>Tgc	p.R69C	LHFPL1_ENST00000536453.1_Missense_Mutation_p.R69C|LHFPL1_ENST00000478229.1_Intron	NM_178175.3	NP_835469.1	Q86WI0	LHPL1_HUMAN	lipoma HMGIC fusion partner-like 1	69						integral to membrane				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)	13						CTGGCATAGCGCCCACATTCT	0.592													33	61					0	0	1	0	0	A	111914414	G	A	111914414	3	1	347	1	0	0	0	0	1	0	0	0	8804	1087	38	1	469	1	LHFPL1	23	111914414	Missense_Mutation	SNP	G	TCGA-IK-8125-01A-11D-2253-08	63574585	111914414	43356146	61	31429											
NSDHL	50814	broad.mit.edu	37	X	152037637	152037637	+	Missense_Mutation	SNP	C	C	T			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chrX:152037637C>T	ENST00000370274.3	+	8	1293	c.1099C>T	c.(1099-1101)Cgc>Tgc	p.R367C	NSDHL_ENST00000440023.1_Missense_Mutation_p.R367C	NM_015922.2	NP_057006.1	Q15738	NSDHL_HUMAN	NAD(P) dependent steroid dehydrogenase-like	367					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|C-3 sterol dehydrogenase (C-4 sterol decarboxylase) activity|sterol-4-alpha-carboxylate 3-dehydrogenase (decarboxylating) activity			NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(5)	15	Acute lymphoblastic leukemia(192;6.56e-05)				NADH(DB00157)	GCAGAGCTTTCGCCACCTGCG	0.552													7	21					0	0	1	0	0	T	152037637	C	T	152037637	3	4	347	1	0	0	0	0	1	0	0	0	10718	884	31	1	1125	1	NSDHL	23	152037637	Missense_Mutation	SNP	C	TCGA-IK-8125-01A-11D-2253-08	40123223	152037637	3232923	62	31430											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-KT-A74X-01A-11D-A32B-08	TCGA-KT-A74X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a77fe08f-c159-4135-a722-a811e62197e4	39a20f83-87e5-4f70-a8b8-c470c6ba2ef3	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								15	30					0	0	1	0	0	T	209113112	C	T	209113112	3	4	348	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-KT-A74X-01A-11D-A32B-08		209113112	34086261	1	31431											
KBTBD8	84541	broad.mit.edu	37	3	67054339	67054339	+	Silent	SNP	A	A	G			TCGA-KT-A74X-01A-11D-A32B-08	TCGA-KT-A74X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a77fe08f-c159-4135-a722-a811e62197e4	39a20f83-87e5-4f70-a8b8-c470c6ba2ef3	g.chr3:67054339A>G	ENST00000295568.4	+	3	1001	c.870A>G	c.(868-870)aaA>aaG	p.K290K	KBTBD8_ENST00000417314.2_Silent_p.K316K|KBTBD8_ENST00000460576.1_Intron	NM_032505.2	NP_115894.2	Q8NFY9	KBTB8_HUMAN	kelch repeat and BTB (POZ) domain containing 8	316										breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)	20		Lung NSC(201;0.0765)		BRCA - Breast invasive adenocarcinoma(55;6.02e-06)|KIRC - Kidney renal clear cell carcinoma(39;0.105)|Kidney(39;0.125)		GGGTGTTTAAACTATGCAAAC	0.433													4	165					0	0	1	0	0	G	67054339	A	G	67054339	2	3	348	1	0	0	0	0	0	0	0	1	8043	40	2	3		3	KBTBD8	3	67054339	Silent	SNP	A	TCGA-KT-A74X-01A-11D-A32B-08		67054339	130968091	2	31432											
CRIPAK	285464	broad.mit.edu	37	4	1388930	1388931	+	Frame_Shift_Ins	INS	-	-	CA	rs71299249		TCGA-KT-A74X-01A-11D-A32B-08	TCGA-KT-A74X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a77fe08f-c159-4135-a722-a811e62197e4	39a20f83-87e5-4f70-a8b8-c470c6ba2ef3	g.chr4:1388930_1388931insCA	ENST00000324803.4	+	1	3591_3592	c.631_632insCA	c.(631-633)tcafs	p.S211fs		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	211					ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus	endoplasmic reticulum|nucleus|plasma membrane	protein binding			NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			GCCTGCCTGCTCACACGTGCCC	0.663													7	196	---	---	---	---						CA	1388931	-	CA	1388930	7	5	348	1	0	1	1	0	0	0	0	0	3900	1551	54	0	633	0	CRIPAK	4	1388930	Frame_Shift_Ins	INS	-	TCGA-KT-A74X-01A-11D-A32B-08		1388930	189765346	3	31433											
PIK3R1	5295	broad.mit.edu	37	5	67589623	67589634	+	In_Frame_Del	DEL	ATATGATAGATT	ATATGATAGATT	-			TCGA-KT-A74X-01A-11D-A32B-08	TCGA-KT-A74X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a77fe08f-c159-4135-a722-a811e62197e4	39a20f83-87e5-4f70-a8b8-c470c6ba2ef3	g.chr5:67589623_67589634delATATGATAGATT	ENST00000521381.1	+	11	2002_2013	c.1386_1397delATATGATAGATT	c.(1384-1398)gaatatgatagatta>gaa	p.YDRL463del	PIK3R1_ENST00000320694.8_In_Frame_Del_p.YDRL163del|PIK3R1_ENST00000523872.1_In_Frame_Del_p.YDRL100del|PIK3R1_ENST00000396611.1_In_Frame_Del_p.YDRL463del|PIK3R1_ENST00000521657.1_In_Frame_Del_p.YDRL463del|PIK3R1_ENST00000336483.5_In_Frame_Del_p.YDRL193del|PIK3R1_ENST00000274335.5_In_Frame_Del_p.YDRL463del	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	463					epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.D464fs*2(1)|p.Y193C(1)|p.0?(1)|p.?(1)|p.D464H(1)|p.Y463fs*1(1)|p.E462_R465delEYDR(1)|p.Y463C(1)|p.Y463_L466del(1)|p.T454_D464del(1)|p.Y163C(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	AAAGTCGAGAATATGATAGATTATATGAAGAA	0.283			"Mis, F, O"		"gliobastoma, ovarian, colorectal"					TCGA GBM(4;<1E-08)			14	28	---	---	---	---						-	67589634	ATATGATAGATT	-	67589623	7	5	348	1	0	1	0	1	0	0	0	0	11966	98	4	0	1554	0	PIK3R1	5	67589623	In_Frame_Del	DEL	ATATGATAGATT	TCGA-KT-A74X-01A-11D-A32B-08		67589623	113325637	4	31434											
HSD17B8	7923	broad.mit.edu	37	6	33172796	33172796	+	Missense_Mutation	SNP	G	G	A			TCGA-KT-A74X-01A-11D-A32B-08	TCGA-KT-A74X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a77fe08f-c159-4135-a722-a811e62197e4	39a20f83-87e5-4f70-a8b8-c470c6ba2ef3	g.chr6:33172796G>A	ENST00000374662.3	+	2	197	c.170G>A	c.(169-171)gGg>gAg	p.G57E	HSD17B8_ENST00000469186.1_3'UTR	NM_014234.4	NP_055049.1	Q92506	DHB8_HUMAN	hydroxysteroid (17-beta) dehydrogenase 8	57					estrogen biosynthetic process|fatty acid biosynthetic process	mitochondrial matrix	3-hydroxyacyl-CoA dehydrogenase activity|estradiol 17-beta-dehydrogenase activity|protein binding|testosterone 17-beta-dehydrogenase (NAD+) activity			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(1)|urinary_tract(2)	9					NADH(DB00157)	CTGCTGGGCGGGCCAGGGAGC	0.721													3	7					0	0	1	0	0	A	33172796	G	A	33172796	3	1	348	1	0	0	0	0	1	0	0	0	7430	1232	43	2	176	2	HSD17B8	6	33172796	Missense_Mutation	SNP	G	TCGA-KT-A74X-01A-11D-A32B-08		33172796	137942271	5	31435											
SLC26A8	116369	broad.mit.edu	37	6	35980123	35980123	+	Missense_Mutation	SNP	C	C	T			TCGA-KT-A74X-01A-11D-A32B-08	TCGA-KT-A74X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a77fe08f-c159-4135-a722-a811e62197e4	39a20f83-87e5-4f70-a8b8-c470c6ba2ef3	g.chr6:35980123C>T	ENST00000490799.1	-	3	568	c.215G>A	c.(214-216)tGc>tAc	p.C72Y	SLC26A8_ENST00000355574.2_Missense_Mutation_p.C72Y|SLC26A8_ENST00000394602.2_Missense_Mutation_p.C72Y	NM_052961.3	NP_443193.1	Q96RN1	S26A8_HUMAN	solute carrier family 26 (anion exchanger), member 8	72					cell differentiation|meiosis|multicellular organismal development|spermatogenesis	integral to membrane|plasma membrane	anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						TGTAAGCACGCATCGTAGGAA	0.458													37	59					0	0	1	0	0	T	35980123	C	T	35980123	3	4	348	1	0	0	0	0	1	0	0	0	14578	710	25	2	2769	2	SLC26A8	6	35980123	Missense_Mutation	SNP	C	TCGA-KT-A74X-01A-11D-A32B-08	2807327	35980123	135134944	6	31436											
GPR111	222611	broad.mit.edu	37	6	47647929	47647929	+	Silent	SNP	T	T	C			TCGA-KT-A74X-01A-11D-A32B-08	TCGA-KT-A74X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a77fe08f-c159-4135-a722-a811e62197e4	39a20f83-87e5-4f70-a8b8-c470c6ba2ef3	g.chr6:47647929T>C	ENST00000398742.2	+	4	439	c.390T>C	c.(388-390)atT>atC	p.I130I	GPR111_ENST00000296862.1_Silent_p.I198I|GPR111_ENST00000507065.1_Silent_p.I130I			Q8IZF7	GP111_HUMAN	G protein-coupled receptor 111	198					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(15)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						CTTGTGTAATTAGAAACATTC	0.383													37	51					0	0	1	0	0	C	47647929	T	C	47647929	2	2	348	1	0	0	0	0	0	0	0	1	6668	1742	61	3		3	GPR111	6	47647929	Silent	SNP	T	TCGA-KT-A74X-01A-11D-A32B-08	11667806	47647929	123467138	7	31437											
SEMA3E	9723	broad.mit.edu	37	7	83029362	83029362	+	Missense_Mutation	SNP	C	C	T			TCGA-KT-A74X-01A-11D-A32B-08	TCGA-KT-A74X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a77fe08f-c159-4135-a722-a811e62197e4	39a20f83-87e5-4f70-a8b8-c470c6ba2ef3	g.chr7:83029362C>T	ENST00000307792.3	-	11	1815	c.1348G>A	c.(1348-1350)Gtc>Atc	p.V450I	SEMA3E_ENST00000427262.1_Missense_Mutation_p.V390I	NM_012431.2	NP_036563.1	O15041	SEM3E_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E	450	Sema.				axon guidance	extracellular space|membrane	receptor activity			breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				ATAAACAAGACGTCATATTGG	0.333													5	146					0	0	1	0	0	T	83029362	C	T	83029362	3	4	348	1	0	0	0	0	1	0	0	0	14082	536	19	1	1007	1	SEMA3E	7	83029362	Missense_Mutation	SNP	C	TCGA-KT-A74X-01A-11D-A32B-08		83029362	76109301	8	31438											
PUS7	54517	broad.mit.edu	37	7	105148879	105148879	+	Silent	SNP	A	A	G			TCGA-KT-A74X-01A-11D-A32B-08	TCGA-KT-A74X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a77fe08f-c159-4135-a722-a811e62197e4	39a20f83-87e5-4f70-a8b8-c470c6ba2ef3	g.chr7:105148879A>G	ENST00000356362.2	-	2	295	c.81T>C	c.(79-81)gtT>gtC	p.V27V	PUS7_ENST00000469408.1_Silent_p.V27V	NM_019042.3	NP_061915.2	Q96PZ0	PUS7_HUMAN	pseudouridylate synthase 7 homolog (S. cerevisiae)	27					pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|pancreas(1)|skin(1)	23						TTGTCTCTTCAACTGGGACTC	0.473													50	51					0	0	1	0	0	G	105148879	A	G	105148879	2	3	348	1	0	0	0	0	0	0	0	1	12885	117	5	3		3	PUS7	7	105148879	Silent	SNP	A	TCGA-KT-A74X-01A-11D-A32B-08	22119517	105148879	53989784	9	31439											
CNOT4	4850	broad.mit.edu	37	7	135073582	135073582	+	Silent	SNP	T	T	C			TCGA-KT-A74X-01A-11D-A32B-08	TCGA-KT-A74X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a77fe08f-c159-4135-a722-a811e62197e4	39a20f83-87e5-4f70-a8b8-c470c6ba2ef3	g.chr7:135073582T>C	ENST00000428680.2	-	11	1962	c.1683A>G	c.(1681-1683)ggA>ggG	p.G561G	CNOT4_ENST00000315544.5_Silent_p.G564G|CNOT4_ENST00000361528.4_Intron|CNOT4_ENST00000423368.2_Intron|CNOT4_ENST00000356162.4_Intron|CNOT4_ENST00000451834.1_Intron|CNOT4_ENST00000414802.1_Intron|CNOT4_ENST00000541284.1_Intron	NM_001008225.2	NP_001008226.1	O95628	CNOT4_HUMAN	CCR4-NOT transcription complex, subunit 4	564					nuclear-transcribed mRNA poly(A) tail shortening|protein autoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	nucleotide binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	22						TAGGCTGCTGTCCTTGTTGTA	0.488													21	20					0	0	1	0	0	C	135073582	T	C	135073582	2	2	348	1	0	0	0	0	0	0	0	1	3644	1654	58	3		3	CNOT4	7	135073582	Silent	SNP	T	TCGA-KT-A74X-01A-11D-A32B-08	29924703	135073582	24065081	10	31440											
RAD54B	25788	broad.mit.edu	37	8	95403999	95403999	+	Silent	SNP	G	G	A			TCGA-KT-A74X-01A-11D-A32B-08	TCGA-KT-A74X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a77fe08f-c159-4135-a722-a811e62197e4	39a20f83-87e5-4f70-a8b8-c470c6ba2ef3	g.chr8:95403999G>A	ENST00000336148.5	-	10	1771	c.1647C>T	c.(1645-1647)tgC>tgT	p.C549C		NM_012415.3	NP_036547.1	O95073	FSBP_HUMAN	RAD54 homolog B (S. cerevisiae)	0					double-strand break repair via homologous recombination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA translocase activity|protein binding	p.C549C(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(10)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(36;4.5e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00217)			CTCCTGGTCGGCAAAAGACAA	0.398								Direct reversal of damage;Homologous recombination					4	201					0	0	1	0	0	A	95403999	G	A	95403999	2	1	348	1	0	0	0	0	0	0	0	1	13044	1195	42	2		2	RAD54B	8	95403999	Silent	SNP	G	TCGA-KT-A74X-01A-11D-A32B-08		95403999	50960023	11	31441											
DHTKD1	55526	broad.mit.edu	37	10	12131003	12131003	+	Nonsense_Mutation	SNP	C	C	T			TCGA-KT-A74X-01A-11D-A32B-08	TCGA-KT-A74X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a77fe08f-c159-4135-a722-a811e62197e4	39a20f83-87e5-4f70-a8b8-c470c6ba2ef3	g.chr10:12131003C>T	ENST00000263035.4	+	5	798	c.736C>T	c.(736-738)Cga>Tga	p.R246*	DHTKD1_ENST00000465617.1_Intron	NM_018706.5	NP_061176	Q96HY7	DHTK1_HUMAN	dehydrogenase E1 and transketolase domain containing 1	246					glycolysis	mitochondrion	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1)	44		Renal(717;0.228)	BRCA - Breast invasive adenocarcinoma(52;0.188)			CCGTAAAATGCGAGGCTTAAG	0.458													4	94					0	0	1	0	0	T	12131003	C	T	12131003	4	4	348	1	0	0	0	0	0	1	0	0	4528	760	27	1	754	1	DHTKD1	10	12131003	Nonsense_Mutation	SNP	C	TCGA-KT-A74X-01A-11D-A32B-08		12131003	123403744	12	31442											
ARMC3	219681	broad.mit.edu	37	10	23326258	23326258	+	Silent	SNP	G	G	A			TCGA-KT-A74X-01A-11D-A32B-08	TCGA-KT-A74X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a77fe08f-c159-4135-a722-a811e62197e4	39a20f83-87e5-4f70-a8b8-c470c6ba2ef3	g.chr10:23326258G>A	ENST00000298032.5	+	19	2553	c.2469G>A	c.(2467-2469)gcG>gcA	p.A823A	ARMC3_ENST00000376528.4_Silent_p.A560A|ARMC3_ENST00000409983.3_Silent_p.A816A	NM_173081.3	NP_775104.2	Q5W041	ARMC3_HUMAN	armadillo repeat containing 3	823							binding			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						ACGGTAGAGCGTGGAATGAAG	0.542													4	65					0	0	1	0	0	A	23326258	G	A	23326258	2	1	348	1	0	0	0	0	0	0	0	1	951	1132	40	1		1	ARMC3	10	23326258	Silent	SNP	G	TCGA-KT-A74X-01A-11D-A32B-08	11195255	23326258	112208489	13	31443											
KCNMA1	3778	broad.mit.edu	37	10	79397261	79397263	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-KT-A74X-01A-11D-A32B-08	TCGA-KT-A74X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a77fe08f-c159-4135-a722-a811e62197e4	39a20f83-87e5-4f70-a8b8-c470c6ba2ef3	g.chr10:79397261_79397263delGAA	ENST00000286627.5	-	1	1090_1092	c.138_140delTTC	c.(136-141)tcttcc>tcc	p.46_47SS>S	KCNMA1_ENST00000404857.1_In_Frame_Del_p.46_47SS>S|KCNMA1_ENST00000372440.1_In_Frame_Del_p.46_47SS>S|KCNMA1_ENST00000372443.1_In_Frame_Del_p.46_47SS>S|KCNMA1_ENST00000480683.1_In_Frame_Del_p.46_47SS>S|KCNMA1_ENST00000481070.1_In_Frame_Del_p.46_47SS>S|KCNMA1_ENST00000404771.3_In_Frame_Del_p.46_47SS>S|KCNMA1_ENST00000286628.8_In_Frame_Del_p.46_47SS>S|KCNMA1_ENST00000406533.3_In_Frame_Del_p.46_47SS>S|KCNMA1_ENST00000354353.5_In_Frame_Del_p.46_47SS>S	NM_001271519.1|NM_002247.3	NP_001258448.1|NP_002238.2	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1	46	Poly-Ser.				cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity			breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)	agaagaagaggaagaggaggagg	0.616													5	8	---	---	---	---						-	79397263	GAA	-	79397261	7	5	348	1	0	1	0	1	0	0	0	0	8117	1174	41	0	3854	0	KCNMA1	10	79397261	In_Frame_Del	DEL	GAA	TCGA-KT-A74X-01A-11D-A32B-08	56071003	79397261	56137486	14	31444											
LMO1	4004	broad.mit.edu	37	11	8252034	8252034	+	Missense_Mutation	SNP	C	C	T			TCGA-KT-A74X-01A-11D-A32B-08	TCGA-KT-A74X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a77fe08f-c159-4135-a722-a811e62197e4	39a20f83-87e5-4f70-a8b8-c470c6ba2ef3	g.chr11:8252034C>T	ENST00000335790.3	-	2	538	c.43G>A	c.(43-45)Gtc>Atc	p.V15I	LMO1_ENST00000428101.2_Missense_Mutation_p.V14I|LMO1_ENST00000534484.1_Missense_Mutation_p.V4I	NM_002315.2	NP_002306.1	P25800	RBTN1_HUMAN	LIM domain only 1 (rhombotin 1)	15					cell proliferation|multicellular organismal development|positive regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|skin(1)	5				Epithelial(150;1.59e-07)|BRCA - Breast invasive adenocarcinoma(625;0.203)		TTGGGCTGGACGGAGAGCATC	0.592			"T, A"	TRD@	"T-ALL, neuroblastoma"	neuroblastoma							16	86					0	0	1	0	0	T	8252034	C	T	8252034	3	4	348	1	0	0	0	0	1	0	0	0	8892	536	19	1	439	1	LMO1	11	8252034	Missense_Mutation	SNP	C	TCGA-KT-A74X-01A-11D-A32B-08		8252034	126754482	15	31445											
NEK3	4752	broad.mit.edu	37	13	52725327	52725327	+	Frame_Shift_Del	DEL	A	A	-			TCGA-KT-A74X-01A-11D-A32B-08	TCGA-KT-A74X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a77fe08f-c159-4135-a722-a811e62197e4	39a20f83-87e5-4f70-a8b8-c470c6ba2ef3	g.chr13:52725327delA	ENST00000400357.2	-	6	1795	c.502delT	c.(502-504)tatfs	p.Y168fs	NEK3_ENST00000339406.3_Frame_Shift_Del_p.Y168fs|NEK3_ENST00000378101.2_Frame_Shift_Del_p.Y168fs|NEK3_ENST00000452082.2_Frame_Shift_Del_p.Y189fs			P51956	NEK3_HUMAN	NIMA-related kinase 3	168	Interaction with VAV2.|Protein kinase.				cell division|mitosis	nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|stomach(2)	18		Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.034)|Hepatocellular(98;0.065)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.81e-08)		GGAGGCACATAATAAGGAGTT	0.393													2	4	---	---	---	---						-	52725327	A	-	52725327	7	5	348	1	0	1	0	1	0	0	0	0	10372	362	13	0	1058	0	NEK3	13	52725327	Frame_Shift_Del	DEL	A	TCGA-KT-A74X-01A-11D-A32B-08		52725327	62444551	16	31446											
WDR25	79446	broad.mit.edu	37	14	100934452	100934452	+	Missense_Mutation	SNP	G	G	A			TCGA-KT-A74X-01A-11D-A32B-08	TCGA-KT-A74X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a77fe08f-c159-4135-a722-a811e62197e4	39a20f83-87e5-4f70-a8b8-c470c6ba2ef3	g.chr14:100934452G>A	ENST00000335290.6	+	3	1143	c.917G>A	c.(916-918)cGc>cAc	p.R306H	WDR25_ENST00000402312.3_Missense_Mutation_p.R306H|WDR25_ENST00000554998.1_Missense_Mutation_p.R306H|WDR25_ENST00000542471.2_Missense_Mutation_p.R49H	NM_024515.4	NP_078791.3	Q64LD2	WDR25_HUMAN	WD repeat domain 25	306										central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|skin(1)	20		Melanoma(154;0.212)				TGTGGCCGGCGCATCCTCAGT	0.637													4	175					0	0	1	0	0	A	100934452	G	A	100934452	3	1	348	1	0	0	0	0	1	0	0	0	17342	1087	38	1	923	1	WDR25	14	100934452	Missense_Mutation	SNP	G	TCGA-KT-A74X-01A-11D-A32B-08		100934452	6415088	17	31447											
NOTCH3	4854	broad.mit.edu	37	19	15298084	15298084	+	Missense_Mutation	SNP	G	G	A	rs75068032		TCGA-KT-A74X-01A-11D-A32B-08	TCGA-KT-A74X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a77fe08f-c159-4135-a722-a811e62197e4	39a20f83-87e5-4f70-a8b8-c470c6ba2ef3	g.chr19:15298084G>A	ENST00000263388.2	-	11	1747	c.1672C>T	c.(1672-1674)Cgc>Tgc	p.R558C		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	558	EGF-like 14; calcium-binding (Potential).		R -> C (in CADASIL).		Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			TCCACGCAGCGACCATGGTGG	0.652													3	39					0	0	1	0	0	A	15298084	G	A	15298084	3	1	348	1	0	0	0	0	1	0	0	0	10597	1058	37	1	5385	1	NOTCH3	19	15298084	Missense_Mutation	SNP	G	TCGA-KT-A74X-01A-11D-A32B-08		15298084	43830899	18	31448											
CIC	23152	broad.mit.edu	37	19	42791758	42791758	+	Missense_Mutation	SNP	G	G	A			TCGA-KT-A74X-01A-11D-A32B-08	TCGA-KT-A74X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a77fe08f-c159-4135-a722-a811e62197e4	39a20f83-87e5-4f70-a8b8-c470c6ba2ef3	g.chr19:42791758G>A	ENST00000572681.2	+	6	3439	c.3371G>A	c.(3370-3372)cGg>cAg	p.R1124Q	CIC_ENST00000575354.2_Missense_Mutation_p.R215Q|CIC_ENST00000160740.3_Missense_Mutation_p.R215Q			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	215	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	p.R215Q(2)		autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				AAGCGGCACCGGGCCCTGGTC	0.612			"Mis, F, S"		oligodendroglioma								34	12					0	0	1	0	0	A	42791758	G	A	42791758	3	1	348	1	0	0	0	0	1	0	0	0	3446	1116	39	1	662	1	CIC	19	42791758	Missense_Mutation	SNP	G	TCGA-KT-A74X-01A-11D-A32B-08	27493674	42791758	16337225	19	31449											
NSFL1C	55968	broad.mit.edu	37	20	1433682	1433682	+	Missense_Mutation	SNP	C	C	T			TCGA-KT-A74X-01A-11D-A32B-08	TCGA-KT-A74X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a77fe08f-c159-4135-a722-a811e62197e4	39a20f83-87e5-4f70-a8b8-c470c6ba2ef3	g.chr20:1433682C>T	ENST00000216879.4	-	6	1508	c.641G>A	c.(640-642)cGc>cAc	p.R214H	NSFL1C_ENST00000350991.4_Missense_Mutation_p.R216H|NSFL1C_ENST00000381658.4_Missense_Mutation_p.R103H|NSFL1C_ENST00000476071.1_Missense_Mutation_p.R216H|NSFL1C_ENST00000353088.2_Missense_Mutation_p.R183H|NSFL1C_ENST00000461211.1_5'UTR	NM_016143.4	NP_057227.2	Q9UNZ2	NSF1C_HUMAN	NSFL1 (p97) cofactor (p47)	214	SEP.					chromosome|Golgi stack|nucleus	lipid binding|protein binding			breast(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	16						TCACCCTCTGCGGATAGACTC	0.458													5	171					0	0	1	0	0	T	1433682	C	T	1433682	3	4	348	1	0	0	0	0	1	0	0	0	10720	768	27	1	487	1	NSFL1C	20	1433682	Missense_Mutation	SNP	C	TCGA-KT-A74X-01A-11D-A32B-08		1433682	61591838	20	31450											
ASIP	434	broad.mit.edu	37	20	32856864	32856864	+	Missense_Mutation	SNP	G	G	T			TCGA-KT-A74X-01A-11D-A32B-08	TCGA-KT-A74X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a77fe08f-c159-4135-a722-a811e62197e4	39a20f83-87e5-4f70-a8b8-c470c6ba2ef3	g.chr20:32856864G>T	ENST00000568305.1	+	4	492	c.290G>T	c.(289-291)cGc>cTc	p.R97L	RP4-785G19.5_ENST00000512005.1_RNA|ASIP_ENST00000374954.3_Missense_Mutation_p.R97L			P42127	ASIP_HUMAN	agouti signaling protein	97	Agouti.				cell-cell signaling|generation of precursor metabolites and energy|hormone-mediated signaling pathway	extracellular space				central_nervous_system(1)|lung(2)	3						GTGGCCACCCGCAACAGCTGC	0.701													3	7					0.004672	0.004672	1	1	0	T	32856864	G	T	32856864	3	4	348	1	0	0	0	0	1	0	0	0	1042	1087	38	5	300	5	ASIP	20	32856864	Missense_Mutation	SNP	G	TCGA-KT-A74X-01A-11D-A32B-08	31423182	32856864	30168656	21	31451											
BRWD1	54014	broad.mit.edu	37	21	40670456	40670456	+	Missense_Mutation	SNP	C	C	T			TCGA-KT-A74X-01A-11D-A32B-08	TCGA-KT-A74X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a77fe08f-c159-4135-a722-a811e62197e4	39a20f83-87e5-4f70-a8b8-c470c6ba2ef3	g.chr21:40670456C>T	ENST00000342449.3	-	5	329	c.251G>A	c.(250-252)cGc>cAc	p.R84H	BRWD1_ENST00000470108.1_5'UTR|BRWD1_ENST00000333229.2_Missense_Mutation_p.R84H|BRWD1_ENST00000380800.3_Missense_Mutation_p.R84H|BRWD1_ENST00000341322.4_Missense_Mutation_p.R84H	NM_033656.3	NP_387505.1	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	84					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				AGGACCGATGCGCTGGCAGAT	0.408													4	142					0	0	1	0	0	T	40670456	C	T	40670456	3	4	348	1	0	0	0	0	1	0	0	0	1527	768	27	1	7116	1	BRWD1	21	40670456	Missense_Mutation	SNP	C	TCGA-KT-A74X-01A-11D-A32B-08		40670456	7459439	22	31452											
TRPM2	7226	broad.mit.edu	37	21	45861581	45861581	+	Missense_Mutation	SNP	C	C	T			TCGA-KT-A74X-01A-11D-A32B-08	TCGA-KT-A74X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a77fe08f-c159-4135-a722-a811e62197e4	39a20f83-87e5-4f70-a8b8-c470c6ba2ef3	g.chr21:45861581C>T	ENST00000397928.1	+	32	4838	c.4393C>T	c.(4393-4395)Cac>Tac	p.H1465Y	TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000300481.9_Missense_Mutation_p.H1411Y|TRPM2_ENST00000397932.2_Missense_Mutation_p.H1515Y|TRPM2_ENST00000300482.5_Missense_Mutation_p.H1465Y	NM_003307.3	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	1465	Nudix hydrolase.					integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						CCAGAACCTGCACGCCTGCGA	0.662													3	21					0	0	1	0	0	T	45861581	C	T	45861581	3	4	348	1	0	0	0	0	1	0	0	0	16647	710	25	2	4519	2	TRPM2	21	45861581	Missense_Mutation	SNP	C	TCGA-KT-A74X-01A-11D-A32B-08	5191125	45861581	2268314	23	31453											
MN1	4330	broad.mit.edu	37	22	28194895	28194900	+	In_Frame_Del	DEL	TGCTGT	TGCTGT	-	rs75719175		TCGA-KT-A74X-01A-11D-A32B-08	TCGA-KT-A74X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a77fe08f-c159-4135-a722-a811e62197e4	39a20f83-87e5-4f70-a8b8-c470c6ba2ef3	g.chr22:28194895_28194900delTGCTGT	ENST00000302326.4	-	1	2586_2591	c.1632_1637delACAGCA	c.(1630-1638)caacagcag>cag	p.544_546QQQ>Q		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	544	Poly-Gln.						binding			NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						ctgctgctgctgctgttgctgttgct	0.646			T	ETV6	"AML, meningioma"								7	6	---	---	---	---						-	28194900	TGCTGT	-	28194895	7	5	348	1	0	1	0	1	0	0	0	0	9722	1580	55	0	2333	0	MN1	22	28194895	In_Frame_Del	DEL	TGCTGT	TCGA-KT-A74X-01A-11D-A32B-08		28194895	23109671	24	31454											
SATL1	340562	broad.mit.edu	37	X	84362997	84362997	+	Silent	SNP	C	C	T			TCGA-KT-A74X-01A-11D-A32B-08	TCGA-KT-A74X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a77fe08f-c159-4135-a722-a811e62197e4	39a20f83-87e5-4f70-a8b8-c470c6ba2ef3	g.chrX:84362997C>T	ENST00000509231.1	-	1	1057	c.978G>A	c.(976-978)agG>agA	p.R326R	SATL1_ENST00000395409.3_Silent_p.R139R|SATL1_ENST00000332921.5_Silent_p.R139R			Q86VE3	SATL1_HUMAN	spermidine/spermine N1-acetyl transferase-like 1	139	Gln-rich.						N-acetyltransferase activity			NS(1)|breast(5)|endometrium(2)|large_intestine(3)|lung(13)|skin(3)|stomach(1)|urinary_tract(1)	29						CTGGTTGGCTCCTACCTAATT	0.527													28	7					0	0	1	0	0	T	84362997	C	T	84362997	2	4	348	1	0	0	0	0	0	0	0	1	13908	854	30	2		2	SATL1	23	84362997	Silent	SNP	C	TCGA-KT-A74X-01A-11D-A32B-08		84362997	70907563	25	31455											
PTPRC	5788	broad.mit.edu	37	1	198676002	198676002	+	Silent	SNP	A	A	G			TCGA-KT-A7W1-01A-11D-A34A-08	TCGA-KT-A7W1-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a253047-19f9-4c91-8ed2-685834f35809	df20f47a-d634-43f1-a0ce-cb055ecb4537	g.chr1:198676002A>G	ENST00000367376.2	+	9	990	c.819A>G	c.(817-819)gaA>gaG	p.E273E	PTPRC_ENST00000352140.3_Silent_p.E225E|PTPRC_ENST00000442510.2_Silent_p.E275E|PTPRC_ENST00000594404.1_Silent_p.E112E|PTPRC_ENST00000348564.6_Silent_p.E114E	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	273					axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						ACCTTACAGAATGTAAAAATG	0.318													54	93					0	0	1	0	0	G	198676002	A	G	198676002	2	3	349	1	0	0	0	0	0	0	0	1	12849	98	4	3		3	PTPRC	1	198676002	Silent	SNP	A	TCGA-KT-A7W1-01A-11D-A34A-08		198676002	50574619	1	31456											
KCNH1	3756	broad.mit.edu	37	1	211307260	211307260	+	Silent	SNP	G	G	A			TCGA-KT-A7W1-01A-11D-A34A-08	TCGA-KT-A7W1-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a253047-19f9-4c91-8ed2-685834f35809	df20f47a-d634-43f1-a0ce-cb055ecb4537	g.chr1:211307260G>A	ENST00000367007.4	-	1	197	c.28C>T	c.(28-30)Cta>Tta	p.L10L	KCNH1_ENST00000271751.4_Silent_p.L10L	NM_002238.3|NM_172362.2	NP_002229.1|NP_758872.1	O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1	10					myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		GGGGCCACTAGTCCCCTCCTG	0.607											OREG0014229	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	30	52					0	0	1	0	0	A	211307260	G	A	211307260	2	1	349	1	0	0	0	0	0	0	0	1	8075	1020	36	2		2	KCNH1	1	211307260	Silent	SNP	G	TCGA-KT-A7W1-01A-11D-A34A-08	12631258	211307260	37943361	2	31457											
C2orf48	348738	broad.mit.edu	37	2	10350625	10350625	+	Missense_Mutation	SNP	G	G	A			TCGA-KT-A7W1-01A-11D-A34A-08	TCGA-KT-A7W1-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a253047-19f9-4c91-8ed2-685834f35809	df20f47a-d634-43f1-a0ce-cb055ecb4537	g.chr2:10350625G>A	ENST00000381786.3	+	4	671	c.382G>A	c.(382-384)Gcg>Acg	p.A128T		NM_182626.2	NP_872432.1	Q96LS8	CB048_HUMAN	chromosome 2 open reading frame 48	128										endometrium(1)|lung(7)	8	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.188)		TGCACAGAGGGCGCTGGGCTC	0.587													23	48					0	0	1	0	0	A	10350625	G	A	10350625	3	1	349	1	0	0	0	0	1	0	0	0	2184	1203	42	2	392	2	C2orf48	2	10350625	Missense_Mutation	SNP	G	TCGA-KT-A7W1-01A-11D-A34A-08		10350625	232848748	3	31458											
TTN	7273	broad.mit.edu	37	2	179473345	179473345	+	Missense_Mutation	SNP	T	T	C			TCGA-KT-A7W1-01A-11D-A34A-08	TCGA-KT-A7W1-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a253047-19f9-4c91-8ed2-685834f35809	df20f47a-d634-43f1-a0ce-cb055ecb4537	g.chr2:179473345T>C	ENST00000589042.1	-	274	52617	c.52393A>G	c.(52393-52395)Aaa>Gaa	p.K17465E	TTN_ENST00000342992.6_Missense_Mutation_p.K14897E|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.K8592E|TTN_ENST00000591111.1_Missense_Mutation_p.K15824E|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.K8400E|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.K8525E|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	15824	Ig-like 103.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AATGGATCTTTAGCCACAAGT	0.363													8	13					0	0	1	0	0	C	179473345	T	C	179473345	3	2	349	1	0	0	0	0	1	0	0	0	16797	1763	61	3	55656	3	TTN	2	179473345	Missense_Mutation	SNP	T	TCGA-KT-A7W1-01A-11D-A34A-08	169122720	179473345	63726028	4	31459											
TTN	7273	broad.mit.edu	37	2	179495965	179495965	+	Missense_Mutation	SNP	T	T	A			TCGA-KT-A7W1-01A-11D-A34A-08	TCGA-KT-A7W1-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a253047-19f9-4c91-8ed2-685834f35809	df20f47a-d634-43f1-a0ce-cb055ecb4537	g.chr2:179495965T>A	ENST00000589042.1	-	237	44034	c.43810A>T	c.(43810-43812)Att>Ttt	p.I14604F	TTN_ENST00000342992.6_Missense_Mutation_p.I12036F|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.I5731F|TTN_ENST00000591111.1_Missense_Mutation_p.I12963F|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.I5539F|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.I5664F|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	12963	Fibronectin type-III 5.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CACTGTAGAATAACTTCATCT	0.353													16	26					0	0	1	0	0	A	179495965	T	A	179495965	3	1	349	1	0	0	0	0	1	0	0	0	16797	1406	49	4	64387	4	TTN	2	179495965	Missense_Mutation	SNP	T	TCGA-KT-A7W1-01A-11D-A34A-08	22620	179495965	63703408	5	31460											
PIK3CA	5290	broad.mit.edu	37	3	178947827	178947827	+	Missense_Mutation	SNP	G	G	T			TCGA-KT-A7W1-01A-11D-A34A-08	TCGA-KT-A7W1-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a253047-19f9-4c91-8ed2-685834f35809	df20f47a-d634-43f1-a0ce-cb055ecb4537	g.chr3:178947827G>T	ENST00000263967.3	+	19	2859	c.2702G>T	c.(2701-2703)tGt>tTt	p.C901F		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	901	PI3K/PI4K.				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.C901F(7)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			ACACGTTCATGTGCTGGATAC	0.388		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			83	112					9.90312e-32	1.07171e-31	1	1	0	T	178947827	G	T	178947827	3	4	349	1	0	0	0	0	1	0	0	0	11961	1377	48	5	2772	5	PIK3CA	3	178947827	Missense_Mutation	SNP	G	TCGA-KT-A7W1-01A-11D-A34A-08		178947827	19074603	6	31461											
RBM47	54502	broad.mit.edu	37	4	40440525	40440525	+	Missense_Mutation	SNP	C	C	T			TCGA-KT-A7W1-01A-11D-A34A-08	TCGA-KT-A7W1-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a253047-19f9-4c91-8ed2-685834f35809	df20f47a-d634-43f1-a0ce-cb055ecb4537	g.chr4:40440525C>T	ENST00000319592.4	-	4	1095	c.386G>A	c.(385-387)cGt>cAt	p.R129H	RBM47_ENST00000381793.2_Missense_Mutation_p.R129H|RBM47_ENST00000381795.6_Missense_Mutation_p.R129H|RBM47_ENST00000515809.1_Intron|RBM47_ENST00000295971.7_Missense_Mutation_p.R129H|RBM47_ENST00000514014.1_Missense_Mutation_p.R91H			A0AV96	RBM47_HUMAN	RNA binding motif protein 47	129	RRM 1.					nucleus	nucleotide binding|RNA binding			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						GTTGAGCTCACGCACTGCGCG	0.627													33	37					0	0	1	0	0	T	40440525	C	T	40440525	3	4	349	1	0	0	0	0	1	0	0	0	13193	536	19	1	1411	1	RBM47	4	40440525	Missense_Mutation	SNP	C	TCGA-KT-A7W1-01A-11D-A34A-08		40440525	150713751	7	31462											
IBSP	3381	broad.mit.edu	37	4	88732645	88732645	+	Silent	SNP	C	C	A			TCGA-KT-A7W1-01A-11D-A34A-08	TCGA-KT-A7W1-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a253047-19f9-4c91-8ed2-685834f35809	df20f47a-d634-43f1-a0ce-cb055ecb4537	g.chr4:88732645C>A	ENST00000226284.5	+	7	604	c.537C>A	c.(535-537)acC>acA	p.T179T		NM_004967.3	NP_004958.2	P21815	SIAL_HUMAN	integrin-binding sialoprotein	179					biomineral tissue development|cell adhesion|ossification					breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)	21		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000333)|COAD - Colon adenocarcinoma(81;0.154)		TAAACGGCACCAGTACCAACA	0.483													17	17					0.000566183	0.000573442	1	1	0	A	88732645	C	A	88732645	2	1	349	1	0	0	0	0	0	0	0	1	7519	581	21	5		5	IBSP	4	88732645	Silent	SNP	C	TCGA-KT-A7W1-01A-11D-A34A-08	48292120	88732645	102421631	8	31463											
TKTL2	84076	broad.mit.edu	37	4	164394265	164394265	+	Nonsense_Mutation	SNP	C	C	A			TCGA-KT-A7W1-01A-11D-A34A-08	TCGA-KT-A7W1-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a253047-19f9-4c91-8ed2-685834f35809	df20f47a-d634-43f1-a0ce-cb055ecb4537	g.chr4:164394265C>A	ENST00000280605.3	-	1	782	c.622G>T	c.(622-624)Gaa>Taa	p.E208*		NM_032136.4	NP_115512.3	Q9H0I9	TKTL2_HUMAN	transketolase-like 2	208						cytoplasm	metal ion binding|transketolase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				CCAAAGGCTTCACAGCAATTC	0.517													36	66					1.69901e-12	1.78963e-12	1	1	0	A	164394265	C	A	164394265	4	1	349	1	0	0	0	0	0	1	0	0	15996	835	29	5	1262	5	TKTL2	4	164394265	Nonsense_Mutation	SNP	C	TCGA-KT-A7W1-01A-11D-A34A-08	75661620	164394265	26760011	9	31464											
TRIML1	339976	broad.mit.edu	37	4	189068385	189068385	+	Silent	SNP	C	C	T	rs145647080	byFrequency	TCGA-KT-A7W1-01A-11D-A34A-08	TCGA-KT-A7W1-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a253047-19f9-4c91-8ed2-685834f35809	df20f47a-d634-43f1-a0ce-cb055ecb4537	g.chr4:189068385C>T	ENST00000332517.3	+	6	1406	c.1266C>T	c.(1264-1266)aaC>aaT	p.N422N	TRIML1_ENST00000507581.1_3'UTR	NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	422	B30.2/SPRY.				multicellular organismal development		ligase activity|zinc ion binding			NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		CATTCTACAACGGGACGGATG	0.517													60	61					0	0	1	0	0	T	189068385	C	T	189068385	2	4	349	1	0	0	0	0	0	0	0	1	16611	535	19	1		1	TRIML1	4	189068385	Silent	SNP	C	TCGA-KT-A7W1-01A-11D-A34A-08	24674120	189068385	2085891	10	31465											
ADCY2	108	broad.mit.edu	37	5	7626306	7626306	+	Missense_Mutation	SNP	C	C	G			TCGA-KT-A7W1-01A-11D-A34A-08	TCGA-KT-A7W1-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a253047-19f9-4c91-8ed2-685834f35809	df20f47a-d634-43f1-a0ce-cb055ecb4537	g.chr5:7626306C>G	ENST00000338316.4	+	4	686	c.597C>G	c.(595-597)atC>atG	p.I199M		NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	199				VWQILANVIIFICGNLAGAY -> GLADPGQCDHFHLWEPG XTN (in Ref. 1; AAP97285).	activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						TCATTTTCATCTGTGGGAACC	0.448													55	85					0	0	1	0	0	G	7626306	C	G	7626306	3	3	349	1	0	0	0	0	1	0	0	0	293	903	32	4	611	4	ADCY2	5	7626306	Missense_Mutation	SNP	C	TCGA-KT-A7W1-01A-11D-A34A-08		7626306	173288954	11	31466											
FST	10468	broad.mit.edu	37	5	52779405	52779405	+	Missense_Mutation	SNP	G	G	A			TCGA-KT-A7W1-01A-11D-A34A-08	TCGA-KT-A7W1-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a253047-19f9-4c91-8ed2-685834f35809	df20f47a-d634-43f1-a0ce-cb055ecb4537	g.chr5:52779405G>A	ENST00000396947.3	+	3	515	c.349G>A	c.(349-351)Gtc>Atc	p.V117I	FST_ENST00000256759.3_Missense_Mutation_p.V117I	NM_006350.3	NP_006341.1	P19883	FST_HUMAN	follistatin	117	Follistatin-like 1.|Kazal-like 1.				hemopoietic progenitor cell differentiation|negative regulation of activin receptor signaling pathway|negative regulation of follicle-stimulating hormone secretion|negative regulation of transcription from RNA polymerase II promoter|positive regulation of hair follicle development	extracellular region	activin binding|protein binding|signal transducer activity			breast(1)|endometrium(1)|large_intestine(4)|lung(7)|prostate(1)|urinary_tract(1)	15		Ovarian(174;1.78e-06)|Lung NSC(810;3.55e-06)|Breast(144;4.08e-05)				ACCCCGCTGCGTCTGCGCCCC	0.507													10	41					0	0	1	0	0	A	52779405	G	A	52779405	3	1	349	1	0	0	0	0	1	0	0	0	6111	1145	40	1	359	1	FST	5	52779405	Missense_Mutation	SNP	G	TCGA-KT-A7W1-01A-11D-A34A-08	45153099	52779405	128135855	12	31467											
PCDHGA3	56112	broad.mit.edu	37	5	140725296	140725296	+	Missense_Mutation	SNP	G	G	A			TCGA-KT-A7W1-01A-11D-A34A-08	TCGA-KT-A7W1-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a253047-19f9-4c91-8ed2-685834f35809	df20f47a-d634-43f1-a0ce-cb055ecb4537	g.chr5:140725296G>A	ENST00000253812.6	+	1	1696	c.1696G>A	c.(1696-1698)Gcc>Acc	p.A566T	PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1														breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTGTACCCCGCCCTCCCCAC	0.667													86	111					0	0	1	0	0	A	140725296	G	A	140725296	3	1	349	1	0	0	0	0	1	0	0	0	11602	1087	38	1	1698	1	PCDHGA3	5	140725296	Missense_Mutation	SNP	G	TCGA-KT-A7W1-01A-11D-A34A-08	87945891	140725296	40189964	13	31468											
EGFR	1956	broad.mit.edu	37	7	55221822	55221822	+	Missense_Mutation	SNP	C	C	T	rs149840192		TCGA-KT-A7W1-01A-11D-A34A-08	TCGA-KT-A7W1-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a253047-19f9-4c91-8ed2-685834f35809	df20f47a-d634-43f1-a0ce-cb055ecb4537	g.chr7:55221822C>T	ENST00000275493.2	+	7	1043	c.866C>T	c.(865-867)gCc>gTc	p.A289V	EGFR_ENST00000342916.3_Missense_Mutation_p.A289V|EGFR_ENST00000454757.2_Missense_Mutation_p.A236V|EGFR_ENST00000420316.2_Missense_Mutation_p.A289V|EGFR_ENST00000455089.1_Missense_Mutation_p.A244V|EGFR_ENST00000442591.1_Missense_Mutation_p.A289V|EGFR_ENST00000344576.2_Missense_Mutation_p.A289V	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	289					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.A289V(20)|p.A289D(3)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	AGCTTTGGTGCCACCTGCGTG	0.592		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			25	1388					0	0	1	0	0	T	55221822	C	T	55221822	3	4	349	1	0	0	0	0	1	0	0	0	4993	739	26	2	892	2	EGFR	7	55221822	Missense_Mutation	SNP	C	TCGA-KT-A7W1-01A-11D-A34A-08		55221822	103916841	14	31469											
EGFR	1956	broad.mit.edu	37	7	55241677	55241677	+	Missense_Mutation	SNP	G	G	A			TCGA-KT-A7W1-01A-11D-A34A-08	TCGA-KT-A7W1-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a253047-19f9-4c91-8ed2-685834f35809	df20f47a-d634-43f1-a0ce-cb055ecb4537	g.chr7:55241677G>A	ENST00000275493.2	+	18	2302	c.2125G>A	c.(2125-2127)Gaa>Aaa	p.E709K	EGFR_ENST00000454757.2_Missense_Mutation_p.E656K|EGFR_ENST00000455089.1_Missense_Mutation_p.E664K|EGFR_ENST00000442591.1_Intron	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	709			E -> A (found in a lung cancer sample).|E -> K (found in a lung cancer sample).		activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.E709K(16)|p.E709H(2)|p.E709fs*1(1)|p.E709Q(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	GATCTTGAAGGAAACTGAATT	0.567		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			546	2133					0	0	1	0	0	A	55241677	G	A	55241677	3	1	349	1	0	0	0	0	1	0	0	0	4993	1175	41	2	2459	2	EGFR	7	55241677	Missense_Mutation	SNP	G	TCGA-KT-A7W1-01A-11D-A34A-08	19855	55241677	103896986	15	31470			1	37		2	2	32	G		5.20713e-05
EGFR	1956	broad.mit.edu	37	7	55241708	55241708	+	Missense_Mutation	SNP	G	G	A	rs121913428		TCGA-KT-A7W1-01A-11D-A34A-08	TCGA-KT-A7W1-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a253047-19f9-4c91-8ed2-685834f35809	df20f47a-d634-43f1-a0ce-cb055ecb4537	g.chr7:55241708G>A	ENST00000275493.2	+	18	2333	c.2156G>A	c.(2155-2157)gGc>gAc	p.G719D	EGFR_ENST00000454757.2_Missense_Mutation_p.G666D|EGFR_ENST00000455089.1_Missense_Mutation_p.G674D|EGFR_ENST00000442591.1_Intron	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	719	Protein kinase.		G -> A (found in a lung cancer sample).|G -> C (found in a lung cancer sample; dbSNP:rs28929495).|G -> D (found in a lung cancer sample).|G -> S (found in a lung cancer sample; somatic mutation; strongly increased kinase activity).		activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.G719A(27)|p.G719D(4)|p.G719fs*29(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	AAAGTGCTGGGCTCCGGTGCG	0.582		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			385	1641					0	0	1	0	0	A	55241708	G	A	55241708	3	1	349	1	0	0	0	0	1	0	0	0	4993	1203	42	2	2490	2	EGFR	7	55241708	Missense_Mutation	SNP	G	TCGA-KT-A7W1-01A-11D-A34A-08	31	55241708	103896955	16	31471			1	37		2	2	32	G		5.20713e-05
PLXNA4	91584	broad.mit.edu	37	7	131844257	131844257	+	Silent	SNP	C	C	T			TCGA-KT-A7W1-01A-11D-A34A-08	TCGA-KT-A7W1-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a253047-19f9-4c91-8ed2-685834f35809	df20f47a-d634-43f1-a0ce-cb055ecb4537	g.chr7:131844257C>T	ENST00000359827.3	-	25	5597	c.4635G>A	c.(4633-4635)cgG>cgA	p.R1545R	PLXNA4_ENST00000321063.4_Silent_p.R1545R			Q9HCM2	PLXA4_HUMAN	plexin A4	1545						integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						CAGCTTTGGGCCGGTGGGAGC	0.557													5	307					0	0	1	0	0	T	131844257	C	T	131844257	2	4	349	1	0	0	0	0	0	0	0	1	12170	726	26	2		2	PLXNA4	7	131844257	Silent	SNP	C	TCGA-KT-A7W1-01A-11D-A34A-08	76602549	131844257	27294406	17	31472											
OPRK1	4986	broad.mit.edu	37	8	54142151	54142151	+	Silent	SNP	G	G	A			TCGA-KT-A7W1-01A-11D-A34A-08	TCGA-KT-A7W1-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a253047-19f9-4c91-8ed2-685834f35809	df20f47a-d634-43f1-a0ce-cb055ecb4537	g.chr8:54142151G>A	ENST00000265572.3	-	4	1146	c.849C>T	c.(847-849)ttC>ttT	p.F283F	OPRK1_ENST00000524278.1_Silent_p.F194F|OPRK1_ENST00000520287.1_Silent_p.F283F|RP11-162D9.3_ENST00000524425.1_RNA	NM_000912.3	NP_000903.2	P41145	OPRK_HUMAN	opioid receptor, kappa 1	283					behavior|immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception|synaptic transmission|viral genome replication	integral to plasma membrane	kappa-opioid receptor activity|protein binding			NS(2)|breast(3)|endometrium(3)|kidney(12)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	43		all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136)			Buprenorphine(DB00921)|Butorphanol(DB00611)|Cocaine(DB00907)|Codeine(DB00318)|Dezocine(DB01209)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Meperidine(DB00454)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Tramadol(DB00193)	AGCAGACGACGAAGACTGCCA	0.577													20	18					0	0	1	0	0	A	54142151	G	A	54142151	2	1	349	1	0	0	0	0	0	0	0	1	10933	1049	37	1		1	OPRK1	8	54142151	Silent	SNP	G	TCGA-KT-A7W1-01A-11D-A34A-08		54142151	92221871	18	31473											
SEC16A	9919	broad.mit.edu	37	9	139371999	139371999	+	Silent	SNP	G	G	A			TCGA-KT-A7W1-01A-11D-A34A-08	TCGA-KT-A7W1-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a253047-19f9-4c91-8ed2-685834f35809	df20f47a-d634-43f1-a0ce-cb055ecb4537	g.chr9:139371999G>A	ENST00000313050.7	-	1	142	c.69C>T	c.(67-69)agC>agT	p.S23S		NM_014866.1	NP_055681.1	O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	1999					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		CCCAGAACACGCTCCGAGGAT	0.597													12	23					0	0	1	0	0	A	139371999	G	A	139371999	2	1	349	1	0	0	0	0	0	0	0	1	14040	1078	38	1		1	SEC16A	9	139371999	Silent	SNP	G	TCGA-KT-A7W1-01A-11D-A34A-08		139371999	1841432	19	31474											
OR51E2	81285	broad.mit.edu	37	11	4703280	4703280	+	Missense_Mutation	SNP	A	A	G			TCGA-KT-A7W1-01A-11D-A34A-08	TCGA-KT-A7W1-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a253047-19f9-4c91-8ed2-685834f35809	df20f47a-d634-43f1-a0ce-cb055ecb4537	g.chr11:4703280A>G	ENST00000396950.3	-	2	901	c.662T>C	c.(661-663)aTa>aCa	p.I221T		NM_030774.3	NP_110401.1	Q9H255	O51E2_HUMAN	olfactory receptor, family 51, subfamily E, member 2	221					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(3)	23		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;3e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00476)|LUSC - Lung squamous cell carcinoma(625;0.2)		AACCGTTCGTATTATCAGAAA	0.488													18	37					0	0	1	0	0	G	4703280	A	G	4703280	3	3	349	1	0	0	0	0	1	0	0	0	11143	449	16	3	304	3	OR51E2	11	4703280	Missense_Mutation	SNP	A	TCGA-KT-A7W1-01A-11D-A34A-08		4703280	130303236	20	31475											
OR4S1	256148	broad.mit.edu	37	11	48328178	48328178	+	Missense_Mutation	SNP	A	A	G			TCGA-KT-A7W1-01A-11D-A34A-08	TCGA-KT-A7W1-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a253047-19f9-4c91-8ed2-685834f35809	df20f47a-d634-43f1-a0ce-cb055ecb4537	g.chr11:48328178A>G	ENST00000319988.1	+	1	404	c.404A>G	c.(403-405)gAt>gGt	p.D135G		NM_001004725.1	NP_001004725.1	Q8NGB4	OR4S1_HUMAN	olfactory receptor, family 4, subfamily S, member 1	135					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|skin(3)	21						GCCATCATGGATTGCCGGAAG	0.582													41	37					0	0	1	0	0	G	48328178	A	G	48328178	3	3	349	1	0	0	0	0	1	0	0	0	11130	333	12	3	406	3	OR4S1	11	48328178	Missense_Mutation	SNP	A	TCGA-KT-A7W1-01A-11D-A34A-08	43624898	48328178	86678338	21	31476											
EHD1	10938	broad.mit.edu	37	11	64622120	64622120	+	Silent	SNP	G	G	A			TCGA-KT-A7W1-01A-11D-A34A-08	TCGA-KT-A7W1-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a253047-19f9-4c91-8ed2-685834f35809	df20f47a-d634-43f1-a0ce-cb055ecb4537	g.chr11:64622120G>A	ENST00000320631.3	-	5	1544	c.1290C>T	c.(1288-1290)gcC>gcT	p.A430A	EHD1_ENST00000488711.1_5'UTR|EHD1_ENST00000359393.2_Silent_p.A430A	NM_001282445.1|NM_006795.2	NP_001269374.1|NP_006786.2	Q9H4M9	EHD1_HUMAN	EH-domain containing 1	430					blood coagulation|cholesterol homeostasis|endocytic recycling|intracellular protein transport|low-density lipoprotein particle clearance|positive regulation of cholesterol storage|protein homooligomerization	early endosome membrane|lipid particle|plasma membrane|platelet dense tubular network membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	12						TGCCCTCGCCGGCCCCCTCGC	0.662													4	122					0	0	1	0	0	A	64622120	G	A	64622120	2	1	349	1	0	0	0	0	0	0	0	1	5003	1103	39	1		1	EHD1	11	64622120	Silent	SNP	G	TCGA-KT-A7W1-01A-11D-A34A-08	16293942	64622120	70384396	22	31477											
DCUN1D5	84259	broad.mit.edu	37	11	102937266	102937266	+	Silent	SNP	T	T	C			TCGA-KT-A7W1-01A-11D-A34A-08	TCGA-KT-A7W1-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a253047-19f9-4c91-8ed2-685834f35809	df20f47a-d634-43f1-a0ce-cb055ecb4537	g.chr11:102937266T>C	ENST00000260247.5	-	5	714	c.372A>G	c.(370-372)aaA>aaG	p.K124K	DCUN1D5_ENST00000531543.1_Silent_p.K39K	NM_032299.3	NP_115675.1	Q9BTE7	DCNL5_HUMAN	DCN1, defective in cullin neddylation 1, domain containing 5	124	DCUN1.									NS(1)|central_nervous_system(1)|endometrium(2)	4		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.00032)|Epithelial(105;0.0689)|all cancers(92;0.186)		AAAAGTCAAATTTGTTTTGTA	0.303													31	37					0	0	1	0	0	C	102937266	T	C	102937266	2	2	349	1	0	0	0	0	0	0	0	1	4340	1490	52	3		3	DCUN1D5	11	102937266	Silent	SNP	T	TCGA-KT-A7W1-01A-11D-A34A-08	38315146	102937266	32069250	23	31478											
MDM2	4193	broad.mit.edu	37	12	69222647	69222647	+	Missense_Mutation	SNP	T	T	A			TCGA-KT-A7W1-01A-11D-A34A-08	TCGA-KT-A7W1-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a253047-19f9-4c91-8ed2-685834f35809	df20f47a-d634-43f1-a0ce-cb055ecb4537	g.chr12:69222647T>A	ENST00000462284.1	+	8	922	c.620T>A	c.(619-621)gTa>gAa	p.V207E	MDM2_ENST00000393412.3_Intron|MDM2_ENST00000540827.1_Intron|MDM2_ENST00000258148.7_Missense_Mutation_p.V152E|MDM2_ENST00000350057.5_Missense_Mutation_p.V176E|MDM2_ENST00000544561.1_Intron|MDM2_ENST00000478070.1_Intron|MDM2_ENST00000348801.2_Intron|MDM2_ENST00000517852.1_Intron|MDM2_ENST00000428863.2_Intron|MDM2_ENST00000356290.4_Intron|MDM2_ENST00000393410.1_Intron|MDM2_ENST00000360430.2_Intron|MDM2_ENST00000545204.1_Intron|MDM2_ENST00000258149.5_Missense_Mutation_p.V146E|MDM2_ENST00000393413.3_Intron|MDM2_ENST00000299252.4_Intron	NM_002392.4	NP_002383.2	Q00987	MDM2_HUMAN	MDM2 oncogene, E3 ubiquitin protein ligase	201	Interaction with MTBP (By similarity).|Interaction with PYHIN1.				cellular response to hypoxia|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|establishment of protein localization|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell cycle arrest|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mitotic cell cycle|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein complex assembly|protein destabilization|protein localization to nucleus|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to antibiotic|synaptic transmission	cytosol|endocytic vesicle membrane|insoluble fraction|nucleolus|nucleoplasm|plasma membrane|protein complex	enzyme binding|identical protein binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(8)|prostate(1)|urinary_tract(1)	19	all_cancers(1;8.46e-121)|all_epithelial(5;3.21e-36)|Lung NSC(4;2.16e-33)|all_lung(4;3.03e-31)|Glioma(1;1.9e-09)|Breast(13;1.59e-06)|all_neural(1;1.03e-05)|Melanoma(1;0.0171)|Renal(347;0.0684)		all cancers(2;8.67e-65)|GBM - Glioblastoma multiforme(2;8.89e-62)|BRCA - Breast invasive adenocarcinoma(5;2.43e-08)|Lung(24;1.5e-05)|LUAD - Lung adenocarcinoma(15;8.5e-05)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)			GCTCTGTGTGTAATAAGGGAG	0.403			A		"sarcoma, glioma, colorectal, other"								53	57					0	0	1	0	0	A	69222647	T	A	69222647	3	1	349	1	0	0	0	0	1	0	0	0	9463	1638	57	5	650	5	MDM2	12	69222647	Missense_Mutation	SNP	T	TCGA-KT-A7W1-01A-11D-A34A-08		69222647	64629248	24	31479											
TMEM132D	121256	broad.mit.edu	37	12	130184803	130184803	+	Nonsense_Mutation	SNP	G	G	A			TCGA-KT-A7W1-01A-11D-A34A-08	TCGA-KT-A7W1-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a253047-19f9-4c91-8ed2-685834f35809	df20f47a-d634-43f1-a0ce-cb055ecb4537	g.chr12:130184803G>A	ENST00000422113.2	-	2	846	c.520C>T	c.(520-522)Cga>Tga	p.R174*		NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	174						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		CGGGTCTCTCGGAAAGCAAAG	0.682													16	13					0	0	1	0	0	A	130184803	G	A	130184803	4	1	349	1	0	0	0	0	0	1	0	0	16107	1124	39	1	2811	1	TMEM132D	12	130184803	Nonsense_Mutation	SNP	G	TCGA-KT-A7W1-01A-11D-A34A-08	60962156	130184803	3667092	25	31480											
C1QTNF9B	387911	broad.mit.edu	37	13	24465957	24465957	+	Missense_Mutation	SNP	C	C	A			TCGA-KT-A7W1-01A-11D-A34A-08	TCGA-KT-A7W1-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a253047-19f9-4c91-8ed2-685834f35809	df20f47a-d634-43f1-a0ce-cb055ecb4537	g.chr13:24465957C>A	ENST00000382137.3	-	3	541	c.473G>T	c.(472-474)gGa>gTa	p.G158V	C1QTNF9B-AS1_ENST00000417034.1_RNA|C1QTNF9B_ENST00000382145.1_Intron|C1QTNF9B_ENST00000382140.2_Missense_Mutation_p.G158V|C1QTNF9B-AS1_ENST00000435039.2_RNA|C1QTNF9B-AS1_ENST00000382133.4_RNA|C1QTNF9B_ENST00000556521.1_Intron|C1QTNF9B_ENST00000382057.3_Intron	NM_001007537.1	NP_001007538.1	B2RNN3	C1T9B_HUMAN	C1q and tumor necrosis factor related protein 9B	158	Collagen-like 3.					collagen				breast(1)|central_nervous_system(1)|large_intestine(3)|lung(1)	6						ACCAGGCTTTCCAATAGGGCC	0.627													12	38					2.80697e-09	2.87988e-09	1	1	0	A	24465957	C	A	24465957	3	1	349	1	0	0	0	0	1	0	0	0	1984	855	30	5	531	5	C1QTNF9B	13	24465957	Missense_Mutation	SNP	C	TCGA-KT-A7W1-01A-11D-A34A-08		24465957	90703921	26	31481											
ELF1	1997	broad.mit.edu	37	13	41517272	41517272	+	Missense_Mutation	SNP	T	T	C			TCGA-KT-A7W1-01A-11D-A34A-08	TCGA-KT-A7W1-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a253047-19f9-4c91-8ed2-685834f35809	df20f47a-d634-43f1-a0ce-cb055ecb4537	g.chr13:41517272T>C	ENST00000239882.3	-	7	936	c.622A>G	c.(622-624)Att>Gtt	p.I208V	ELF1_ENST00000498824.1_5'UTR|ELF1_ENST00000442101.1_Missense_Mutation_p.I184V	NM_172373.3	NP_758961.1	P32519	ELF1_HUMAN	E74-like factor 1 (ets domain transcription factor)	208					positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37		Lung NSC(96;8.3e-05)|Prostate(109;0.0233)|Breast(139;0.0296)|Lung SC(185;0.0367)		all cancers(112;1.87e-08)|Epithelial(112;8.45e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000202)|GBM - Glioblastoma multiforme(144;0.00266)|BRCA - Breast invasive adenocarcinoma(63;0.072)		CAAAGATAAATTGTGTTTCCT	0.343													28	35					0	0	1	0	0	C	41517272	T	C	41517272	3	2	349	1	0	0	0	0	1	0	0	0	5081	1493	52	3	1249	3	ELF1	13	41517272	Missense_Mutation	SNP	T	TCGA-KT-A7W1-01A-11D-A34A-08	17051315	41517272	73652606	27	31482											
RBM25	58517	broad.mit.edu	37	14	73577739	73577739	+	Silent	SNP	C	C	T			TCGA-KT-A7W1-01A-11D-A34A-08	TCGA-KT-A7W1-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a253047-19f9-4c91-8ed2-685834f35809	df20f47a-d634-43f1-a0ce-cb055ecb4537	g.chr14:73577739C>T	ENST00000261973.7	+	15	2178	c.1893C>T	c.(1891-1893)ggC>ggT	p.G631G	RBM25_ENST00000527432.1_Silent_p.G631G|RBM25_ENST00000532483.1_3'UTR	NM_021239.2	NP_067062.1	P49756	RBM25_HUMAN	RNA binding motif protein 25	631	Necessary for nuclear speckle localization.				apoptosis|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|RNA splicing	cytoplasm|nuclear speck	mRNA binding|nucleotide binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(6)|ovary(2)|pancreas(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688)		CTGCCAGTGGCAATGCAACAC	0.498													4	31					0	0	1	0	0	T	73577739	C	T	73577739	2	4	349	1	0	0	0	0	0	0	0	1	13177	697	25	2		2	RBM25	14	73577739	Silent	SNP	C	TCGA-KT-A7W1-01A-11D-A34A-08		73577739	33771801	28	31483											
BAIAP3	8938	broad.mit.edu	37	16	1396250	1396250	+	Missense_Mutation	SNP	G	G	A			TCGA-KT-A7W1-01A-11D-A34A-08	TCGA-KT-A7W1-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a253047-19f9-4c91-8ed2-685834f35809	df20f47a-d634-43f1-a0ce-cb055ecb4537	g.chr16:1396250G>A	ENST00000324385.5	+	25	2644	c.2486G>A	c.(2485-2487)gGg>gAg	p.G829E	BAIAP3_ENST00000397488.2_Missense_Mutation_p.G811E|BAIAP3_ENST00000397489.1_Missense_Mutation_p.G811E|BAIAP3_ENST00000568887.1_Missense_Mutation_p.G766E|BAIAP3_ENST00000562208.1_Missense_Mutation_p.G771E|BAIAP3_ENST00000426824.3_Missense_Mutation_p.G794E|BAIAP3_ENST00000421665.2_Missense_Mutation_p.G758E|BAIAP3_ENST00000564213.1_3'UTR	NM_003933.4	NP_003924.2	O94812	BAIP3_HUMAN	BAI1-associated protein 3	829					G-protein coupled receptor protein signaling pathway|neurotransmitter secretion		protein C-terminus binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(25)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42		Hepatocellular(780;0.0893)				TGGCCAGAGGGGGCCACGGGG	0.692													10	9					0	0	1	0	0	A	1396250	G	A	1396250	3	1	349	1	0	0	0	0	1	0	0	0	1302	1232	43	2	2584	2	BAIAP3	16	1396250	Missense_Mutation	SNP	G	TCGA-KT-A7W1-01A-11D-A34A-08		1396250	88958503	29	31484											
GRIN2A	2903	broad.mit.edu	37	16	9857178	9857178	+	Missense_Mutation	SNP	G	G	A			TCGA-KT-A7W1-01A-11D-A34A-08	TCGA-KT-A7W1-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a253047-19f9-4c91-8ed2-685834f35809	df20f47a-d634-43f1-a0ce-cb055ecb4537	g.chr16:9857178G>A	ENST00000396573.2	-	14	4532	c.4223C>T	c.(4222-4224)aCg>aTg	p.T1408M	GRIN2A_ENST00000562109.1_3'UTR|GRIN2A_ENST00000396575.2_Missense_Mutation_p.T1408M|GRIN2A_ENST00000330684.3_Missense_Mutation_p.T1408M|GRIN2A_ENST00000535259.1_3'UTR|GRIN2A_ENST00000404927.2_3'UTR	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	1408					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GTACGATGCCGTTGACCTCAA	0.493													24	38					0	0	1	0	0	A	9857178	G	A	9857178	3	1	349	1	0	0	0	0	1	0	0	0	6820	1145	40	1	175	1	GRIN2A	16	9857178	Missense_Mutation	SNP	G	TCGA-KT-A7W1-01A-11D-A34A-08	8460928	9857178	80497575	30	31485											
GPR139	124274	broad.mit.edu	37	16	20043248	20043248	+	Missense_Mutation	SNP	G	G	A			TCGA-KT-A7W1-01A-11D-A34A-08	TCGA-KT-A7W1-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a253047-19f9-4c91-8ed2-685834f35809	df20f47a-d634-43f1-a0ce-cb055ecb4537	g.chr16:20043248G>A	ENST00000570682.1	-	2	1171	c.871C>T	c.(871-873)Cgg>Tgg	p.R291W		NM_001002911.2	NP_001002911.1	Q6DWJ6	GP139_HUMAN	G protein-coupled receptor 139	291						integral to membrane|plasma membrane		p.R291W(1)		autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	30						GTGCGGAACCGCTTGCTGATG	0.502													56	65					0	0	1	0	0	A	20043248	G	A	20043248	3	1	349	1	0	0	0	0	1	0	0	0	6688	1086	38	1	194	1	GPR139	16	20043248	Missense_Mutation	SNP	G	TCGA-KT-A7W1-01A-11D-A34A-08	10186070	20043248	70311505	31	31486											
DDX19A	55308	broad.mit.edu	37	16	70404224	70404224	+	Silent	SNP	G	G	A			TCGA-KT-A7W1-01A-11D-A34A-08	TCGA-KT-A7W1-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a253047-19f9-4c91-8ed2-685834f35809	df20f47a-d634-43f1-a0ce-cb055ecb4537	g.chr16:70404224G>A	ENST00000302243.7	+	10	1282	c.1119G>A	c.(1117-1119)gcG>gcA	p.A373A	DDX19A_ENST00000443119.2_Silent_p.A283A|DDX19A_ENST00000417604.2_Silent_p.A342A	NM_018332.3	NP_060802.1			DEAD (Asp-Glu-Ala-Asp) box polypeptide 19A											breast(1)|endometrium(1)|large_intestine(5)|lung(3)|urinary_tract(1)	11		Ovarian(137;0.221)				AGAGGGCTGCGGTGATTGAGC	0.597													13	26					0	0	1	0	0	A	70404224	G	A	70404224	2	1	349	1	0	0	0	0	0	0	0	1	4369	1103	39	1		1	DDX19A	16	70404224	Silent	SNP	G	TCGA-KT-A7W1-01A-11D-A34A-08	50360976	70404224	19950529	32	31487											
RNF167	26001	broad.mit.edu	37	17	4848111	4848111	+	Nonsense_Mutation	SNP	G	G	T			TCGA-KT-A7W1-01A-11D-A34A-08	TCGA-KT-A7W1-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a253047-19f9-4c91-8ed2-685834f35809	df20f47a-d634-43f1-a0ce-cb055ecb4537	g.chr17:4848111G>T	ENST00000262482.6	+	10	1509	c.853G>T	c.(853-855)Gag>Tag	p.E285*	RNF167_ENST00000576229.1_Nonsense_Mutation_p.E250*|RNF167_ENST00000575111.1_Nonsense_Mutation_p.E285*|RNF167_ENST00000571816.1_Nonsense_Mutation_p.E285*|RNF167_ENST00000572430.1_Nonsense_Mutation_p.E285*	NM_015528.1	NP_056343.1	Q9H6Y7	RN167_HUMAN	ring finger protein 167	285					negative regulation of cell cycle|protein polyubiquitination	cytoplasm|endomembrane system|integral to membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|large_intestine(2)|lung(1)	4						CGAAGACCAAGAGGAAGAAAC	0.602													10	93					0.000978159	0.000978159	1	1	0	T	4848111	G	T	4848111	4	4	349	1	0	0	0	0	0	1	0	0	13510	943	33	4	887	4	RNF167	17	4848111	Nonsense_Mutation	SNP	G	TCGA-KT-A7W1-01A-11D-A34A-08		4848111	76347099	33	31488											
KRT19	3880	broad.mit.edu	37	17	39680190	39680190	+	Silent	SNP	C	C	T			TCGA-KT-A7W1-01A-11D-A34A-08	TCGA-KT-A7W1-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a253047-19f9-4c91-8ed2-685834f35809	df20f47a-d634-43f1-a0ce-cb055ecb4537	g.chr17:39680190C>T	ENST00000361566.3	-	6	1068	c.1008G>A	c.(1006-1008)gcG>gcA	p.A336A		NM_002276.4	NP_002267.2			keratin 19											breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)	12		Breast(137;0.00038)				CCTGGATATGCGCCAGCTGGG	0.592													31	41					0	0	1	0	0	T	39680190	C	T	39680190	2	4	349	1	0	0	0	0	0	0	0	1	8499	755	27	1		1	KRT19	17	39680190	Silent	SNP	C	TCGA-KT-A7W1-01A-11D-A34A-08	34832079	39680190	41515020	34	31489											
TCEB3B	51224	broad.mit.edu	37	18	44561077	44561077	+	Missense_Mutation	SNP	C	C	T	rs149522210		TCGA-KT-A7W1-01A-11D-A34A-08	TCGA-KT-A7W1-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a253047-19f9-4c91-8ed2-685834f35809	df20f47a-d634-43f1-a0ce-cb055ecb4537	g.chr18:44561077C>T	ENST00000332567.4	-	1	911	c.559G>A	c.(559-561)Gct>Act	p.A187T	KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000592005.1_Intron	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN	transcription elongation factor B polypeptide 3B (elongin A2)	187					regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding			breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						CCGGGCGCAGCGGGCTCAGGG	0.692													25	31					0	0	1	0	0	T	44561077	C	T	44561077	3	4	349	1	0	0	0	0	1	0	0	0	15742	768	27	1	1706	1	TCEB3B	18	44561077	Missense_Mutation	SNP	C	TCGA-KT-A7W1-01A-11D-A34A-08		44561077	33516171	35	31490											
ZNF700	90592	broad.mit.edu	37	19	12059661	12059661	+	Silent	SNP	G	G	A			TCGA-KT-A7W1-01A-11D-A34A-08	TCGA-KT-A7W1-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a253047-19f9-4c91-8ed2-685834f35809	df20f47a-d634-43f1-a0ce-cb055ecb4537	g.chr19:12059661G>A	ENST00000482090.1	+	3	1186	c.768G>A	c.(766-768)ggG>ggA	p.G256G	ZNF763_ENST00000591944.1_Intron|ZNF700_ENST00000254321.5_Silent_p.G274G|CTD-2006C1.12_ENST00000586394.1_RNA|ZNF763_ENST00000538752.1_Intron|ZNF763_ENST00000590798.1_Intron			Q9H0M5	ZN700_HUMAN	zinc finger protein 700	274					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding		ZNF700/MAST1_ENST00000251472(2)	breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	33						CTCACACTGGGGAGAAGCCCT	0.368													20	50					0	0	1	0	0	A	12059661	G	A	12059661	2	1	349	1	0	0	0	0	0	0	0	1	18160	1219	43	2		2	ZNF700	19	12059661	Silent	SNP	G	TCGA-KT-A7W1-01A-11D-A34A-08		12059661	47069322	36	31491											
MAST3	23031	broad.mit.edu	37	19	18245714	18245714	+	Missense_Mutation	SNP	G	G	A			TCGA-KT-A7W1-01A-11D-A34A-08	TCGA-KT-A7W1-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a253047-19f9-4c91-8ed2-685834f35809	df20f47a-d634-43f1-a0ce-cb055ecb4537	g.chr19:18245714G>A	ENST00000262811.6	+	16	1705	c.1705G>A	c.(1705-1707)Gtc>Atc	p.V569I		NM_015016.1	NP_055831.1	O60307	MAST3_HUMAN	microtubule associated serine/threonine kinase 3		Protein kinase.						ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1)	31						CATGGGCGTCGTCCTCTATGA	0.632													31	109					0	0	1	0	0	A	18245714	G	A	18245714	3	1	349	1	0	0	0	0	1	0	0	0	9376	1145	40	1	1767	1	MAST3	19	18245714	Missense_Mutation	SNP	G	TCGA-KT-A7W1-01A-11D-A34A-08	6186053	18245714	40883269	37	31492											
UPF1	5976	broad.mit.edu	37	19	18958595	18958596	+	Frame_Shift_Ins	INS	-	-	A			TCGA-KT-A7W1-01A-11D-A34A-08	TCGA-KT-A7W1-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a253047-19f9-4c91-8ed2-685834f35809	df20f47a-d634-43f1-a0ce-cb055ecb4537	g.chr19:18958595_18958596insA	ENST00000262803.5	+	3	686_687	c.414_415insA	c.(415-417)accfs	p.T139fs	UPF1_ENST00000599848.1_Frame_Shift_Ins_p.T139fs	NM_002911.3	NP_002902.2	Q92900	RENT1_HUMAN	UPF1 regulator of nonsense transcripts homolog (yeast)	139	Sufficient for interaction with RENT2.				cell cycle|DNA repair|DNA replication|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination	chromatin|cytoplasmic mRNA processing body|exon-exon junction complex	ATP binding|ATP-dependent RNA helicase activity|chromatin binding|DNA binding|protein binding|RNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						TTTACTGTAATACCAGCAAGAA	0.436											OREG0025373	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	47	88	---	---	---	---						A	18958596	-	A	18958595	7	5	349	1	0	1	1	0	0	0	0	0	17063	1403	49	0	424	0	UPF1	19	18958595	Frame_Shift_Ins	INS	-	TCGA-KT-A7W1-01A-11D-A34A-08	712881	18958595	40170388	38	31493											
PSG9	5678	broad.mit.edu	37	19	43773549	43773549	+	Missense_Mutation	SNP	C	C	T	rs142118461		TCGA-KT-A7W1-01A-11D-A34A-08	TCGA-KT-A7W1-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a253047-19f9-4c91-8ed2-685834f35809	df20f47a-d634-43f1-a0ce-cb055ecb4537	g.chr19:43773549C>T	ENST00000244293.7	-	1	101	c.35G>A	c.(34-36)cGc>cAc	p.R12H	PSG9_ENST00000291752.5_Missense_Mutation_p.R12H|PSG9_ENST00000593948.1_Missense_Mutation_p.R12H|PSG9_ENST00000443718.3_Missense_Mutation_p.R12H|PSG9_ENST00000596730.1_Missense_Mutation_p.R12H|PSG9_ENST00000270077.3_Missense_Mutation_p.R12H|PSG9_ENST00000418820.2_Missense_Mutation_p.R12H			Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 9	12					female pregnancy	extracellular region		p.R12H(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Prostate(69;0.00682)				CCAGGTGATGCGCTGTGTGCA	0.622													5	224					0	0	1	0	0	T	43773549	C	T	43773549	3	4	349	1	0	0	0	0	1	0	0	0	12711	768	27	1	1269	1	PSG9	19	43773549	Missense_Mutation	SNP	C	TCGA-KT-A7W1-01A-11D-A34A-08	24814954	43773549	15355434	39	31494											
ZNF283	284349	broad.mit.edu	37	19	44352638	44352638	+	Missense_Mutation	SNP	C	C	T	rs111879759		TCGA-KT-A7W1-01A-11D-A34A-08	TCGA-KT-A7W1-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a253047-19f9-4c91-8ed2-685834f35809	df20f47a-d634-43f1-a0ce-cb055ecb4537	g.chr19:44352638C>T	ENST00000324461.7	+	7	2182	c.1885C>T	c.(1885-1887)Cgt>Tgt	p.R629C	ZNF283_ENST00000588797.1_Missense_Mutation_p.R490C	NM_181845.1	NP_862828.1	Q8N7M2	ZN283_HUMAN	zinc finger protein 283	629			R -> H (in dbSNP:rs1061768).		regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(3)|lung(4)	8		Prostate(69;0.0352)				GCTTTATCAACGTAAGGAATT	0.393													7	95					0	0	1	0	0	T	44352638	C	T	44352638	3	4	349	1	0	0	0	0	1	0	0	0	17878	536	19	1	1899	1	ZNF283	19	44352638	Missense_Mutation	SNP	C	TCGA-KT-A7W1-01A-11D-A34A-08	579089	44352638	14776345	40	31495											
ERCC2	2068	broad.mit.edu	37	19	45858101	45858101	+	Missense_Mutation	SNP	G	G	A			TCGA-KT-A7W1-01A-11D-A34A-08	TCGA-KT-A7W1-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a253047-19f9-4c91-8ed2-685834f35809	df20f47a-d634-43f1-a0ce-cb055ecb4537	g.chr19:45858101G>A	ENST00000391945.4	-	17	1629	c.1552C>T	c.(1552-1554)Cgg>Tgg	p.R518W	ERCC2_ENST00000391944.3_Missense_Mutation_p.R440W	NM_000400.3	NP_000391.1	P18074	ERCC2_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 2	518	Mediates interaction with MMS19.				cell cycle checkpoint|chromosome segregation|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|UV protection|viral reproduction	cytoplasm|holo TFIIH complex|MMXD complex	5'-3' DNA helicase activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding|protein C-terminus binding|protein N-terminus binding			large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|stomach(1)	9		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		CCATAGTTCCGGATCACAGCT	0.587			"Mis, N, F, S"			"skin basal cell, skin squamous cell, melanoma"		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				31	96					0	0	1	0	0	A	45858101	G	A	45858101	3	1	349	1	0	0	0	0	1	0	0	0	5241	1115	39	1	758	1	ERCC2	19	45858101	Missense_Mutation	SNP	G	TCGA-KT-A7W1-01A-11D-A34A-08	1505463	45858101	13270882	41	31496											
TMEM143	55260	broad.mit.edu	37	19	48863392	48863392	+	Silent	SNP	C	C	T			TCGA-KT-A7W1-01A-11D-A34A-08	TCGA-KT-A7W1-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a253047-19f9-4c91-8ed2-685834f35809	df20f47a-d634-43f1-a0ce-cb055ecb4537	g.chr19:48863392C>T	ENST00000293261.3	-	3	622	c.306G>A	c.(304-306)gcG>gcA	p.A102A	TMEM143_ENST00000541566.1_Intron|TMEM143_ENST00000435956.3_Intron|TMEM143_ENST00000377431.2_Intron|TMEM143_ENST00000436660.2_Silent_p.A102A	NM_018273.2	NP_060743.2	Q96AN5	TM143_HUMAN	transmembrane protein 143	102						integral to membrane|mitochondrion				endometrium(2)|kidney(1)|large_intestine(2)|lung(9)	14		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000149)|all cancers(93;0.000198)|Epithelial(262;0.0151)|GBM - Glioblastoma multiforme(486;0.0157)		GGGCCGAGAACGCCTCCAAAG	0.592													19	43					0	0	1	0	0	T	48863392	C	T	48863392	2	4	349	1	0	0	0	0	0	0	0	1	16117	523	19	1		1	TMEM143	19	48863392	Silent	SNP	C	TCGA-KT-A7W1-01A-11D-A34A-08	3005291	48863392	10265591	42	31497											
CACNG2	10369	broad.mit.edu	37	22	36960617	36960617	+	Silent	SNP	G	G	A			TCGA-KT-A7W1-01A-11D-A34A-08	TCGA-KT-A7W1-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a253047-19f9-4c91-8ed2-685834f35809	df20f47a-d634-43f1-a0ce-cb055ecb4537	g.chr22:36960617G>A	ENST00000300105.6	-	4	1734	c.753C>T	c.(751-753)gaC>gaT	p.D251D		NM_006078.3	NP_006069.1	Q9Y698	CCG2_HUMAN	calcium channel, voltage-dependent, gamma subunit 2	251					membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	18						CGGGGGAGGCGTCCCTGGAGT	0.687													11	126					0	0	1	0	0	A	36960617	G	A	36960617	2	1	349	1	0	0	0	0	0	0	0	1	2575	1136	40	1		1	CACNG2	22	36960617	Silent	SNP	G	TCGA-KT-A7W1-01A-11D-A34A-08		36960617	14343949	43	31498											
L3MBTL2	83746	broad.mit.edu	37	22	41621067	41621067	+	Missense_Mutation	SNP	G	G	A			TCGA-KT-A7W1-01A-11D-A34A-08	TCGA-KT-A7W1-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a253047-19f9-4c91-8ed2-685834f35809	df20f47a-d634-43f1-a0ce-cb055ecb4537	g.chr22:41621067G>A	ENST00000216237.5	+	11	1506	c.1348G>A	c.(1348-1350)Gtc>Atc	p.V450I		NM_031488.4	NP_113676.2	Q969R5	LMBL2_HUMAN	l(3)mbt-like 2 (Drosophila)	450					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	methylated histone residue binding|transcription corepressor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CGTGGCAACTGTCTGTAAGGT	0.602													20	29					0	0	1	0	0	A	41621067	G	A	41621067	3	1	349	1	0	0	0	0	1	0	0	0	8631	1377	48	2	1390	2	L3MBTL2	22	41621067	Missense_Mutation	SNP	G	TCGA-KT-A7W1-01A-11D-A34A-08	4660450	41621067	9683499	44	31499											
DMD	1756	broad.mit.edu	37	X	32834682	32834682	+	Nonsense_Mutation	SNP	G	G	A	rs128626235		TCGA-KT-A7W1-01A-11D-A34A-08	TCGA-KT-A7W1-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a253047-19f9-4c91-8ed2-685834f35809	df20f47a-d634-43f1-a0ce-cb055ecb4537	g.chrX:32834682G>A	ENST00000357033.4	-	6	639	c.433C>T	c.(433-435)Cga>Tga	p.R145*	DMD_ENST00000288447.4_Nonsense_Mutation_p.R137*|DMD_ENST00000378677.2_Nonsense_Mutation_p.R141*	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	145	Actin-binding.|CH 2.				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				GTTGATTGTCGGACCCAGCTC	0.393													50	80					0	0	1	0	0	A	32834682	G	A	32834682	4	1	349	1	0	0	0	0	0	1	0	0	4608	1124	39	1	11163	1	DMD	23	32834682	Nonsense_Mutation	SNP	G	TCGA-KT-A7W1-01A-11D-A34A-08		32834682	122435878	45	31500											
SLC9A7	84679	broad.mit.edu	37	X	46466458	46466458	+	Missense_Mutation	SNP	G	G	T			TCGA-KT-A7W1-01A-11D-A34A-08	TCGA-KT-A7W1-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a253047-19f9-4c91-8ed2-685834f35809	df20f47a-d634-43f1-a0ce-cb055ecb4537	g.chrX:46466458G>T	ENST00000328306.4	-	17	2132	c.2107C>A	c.(2107-2109)Ctg>Atg	p.L703M	SLC9A7_ENST00000464933.1_5'UTR	NM_001257291.1|NM_032591.2	NP_001244220.1|NP_115980.1	Q96T83	SL9A7_HUMAN	solute carrier family 9, subfamily A (NHE7, cation proton antiporter 7), member 7	703					regulation of pH	Golgi membrane|integral to membrane|recycling endosome membrane|trans-Golgi network	potassium:hydrogen antiporter activity|protein homodimerization activity|sodium:hydrogen antiporter activity			breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)|skin(1)	21						CCCATTCCCAGGTCTCGCTCC	0.612													22	20					9.57634e-11	9.95435e-11	1	1	0	T	46466458	G	T	46466458	3	4	349	1	0	0	0	0	1	0	0	0	14774	991	35	4	74	4	SLC9A7	23	46466458	Missense_Mutation	SNP	G	TCGA-KT-A7W1-01A-11D-A34A-08	13631776	46466458	108804102	46	31501											
GLUD2	2747	broad.mit.edu	37	X	120181769	120181769	+	Silent	SNP	C	C	T			TCGA-KT-A7W1-01A-11D-A34A-08	TCGA-KT-A7W1-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a253047-19f9-4c91-8ed2-685834f35809	df20f47a-d634-43f1-a0ce-cb055ecb4537	g.chrX:120181769C>T	ENST00000328078.1	+	1	308	c.231C>T	c.(229-231)ggC>ggT	p.G77G		NM_012084.3	NP_036216.2	P49448	DHE4_HUMAN	glutamate dehydrogenase 2	77					glutamate biosynthetic process|glutamate catabolic process	mitochondrial matrix	ADP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|leucine binding	p.G77G(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|urinary_tract(1)	38					L-Glutamic Acid(DB00142)|NADH(DB00157)	TCGATCGCGGCGCCAGCATCG	0.642													46	50					0	0	1	0	0	T	120181769	C	T	120181769	2	4	349	1	0	0	0	0	0	0	0	1	6519	755	27	1		1	GLUD2	23	120181769	Silent	SNP	C	TCGA-KT-A7W1-01A-11D-A34A-08	73715311	120181769	35088791	47	31502											
UTP14A	10813	broad.mit.edu	37	X	129060251	129060251	+	Missense_Mutation	SNP	A	A	T			TCGA-KT-A7W1-01A-11D-A34A-08	TCGA-KT-A7W1-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a253047-19f9-4c91-8ed2-685834f35809	df20f47a-d634-43f1-a0ce-cb055ecb4537	g.chrX:129060251A>T	ENST00000394422.3	+	14	2007	c.1979A>T	c.(1978-1980)aAa>aTa	p.K660I	RP4-537K23.4_ENST00000432062.1_RNA|UTP14A_ENST00000425117.2_Missense_Mutation_p.K608I|UTP14A_ENST00000371051.5_Missense_Mutation_p.K606I|UTP14A_ENST00000371042.3_Missense_Mutation_p.K492I	NM_006649.3	NP_006640.2	Q9BVJ6	UT14A_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein, homolog A (yeast)	660					rRNA processing	nucleolus|small-subunit processome	protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(16)|ovary(3)|urinary_tract(1)	32						CCTCCAAGAAAAGATAAGAAT	0.453											OREG0019920	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	35	60					0	0	1	0	0	T	129060251	A	T	129060251	3	4	349	1	0	0	0	0	1	0	0	0	17155	14	1	5	2033	5	UTP14A	23	129060251	Missense_Mutation	SNP	A	TCGA-KT-A7W1-01A-11D-A34A-08	8878482	129060251	26210309	48	31503											
ARHGEF6	9459	broad.mit.edu	37	X	135825938	135825938	+	Missense_Mutation	SNP	G	G	A	rs144171880	byFrequency	TCGA-KT-A7W1-01A-11D-A34A-08	TCGA-KT-A7W1-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a253047-19f9-4c91-8ed2-685834f35809	df20f47a-d634-43f1-a0ce-cb055ecb4537	g.chrX:135825938G>A	ENST00000250617.6	-	5	1672	c.467C>T	c.(466-468)aCg>aTg	p.T156M	ARHGEF6_ENST00000370622.1_Missense_Mutation_p.T2M|ARHGEF6_ENST00000370620.1_Missense_Mutation_p.T2M|ARHGEF6_ENST00000535227.1_Missense_Mutation_p.T2M	NM_004840.2	NP_004831.1	Q15052	ARHG6_HUMAN	Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6	156					apoptosis|cell junction assembly|induction of apoptosis by extracellular signals|JNK cascade|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(1)|lung(14)|prostate(1)	38	Acute lymphoblastic leukemia(192;0.000127)					TCCATTTTCCGTCATCTCCTA	0.393													39	40					0	0	1	0	0	A	135825938	G	A	135825938	3	1	349	1	0	0	0	0	1	0	0	0	907	1145	40	1	1935	1	ARHGEF6	23	135825938	Missense_Mutation	SNP	G	TCGA-KT-A7W1-01A-11D-A34A-08	6765687	135825938	19444622	49	31504											
PDZD4	57595	broad.mit.edu	37	X	153069356	153069356	+	Missense_Mutation	SNP	C	C	T			TCGA-KT-A7W1-01A-11D-A34A-08	TCGA-KT-A7W1-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a253047-19f9-4c91-8ed2-685834f35809	df20f47a-d634-43f1-a0ce-cb055ecb4537	g.chrX:153069356C>T	ENST00000164640.4	-	8	1953	c.1762G>A	c.(1762-1764)Gcc>Acc	p.A588T	PDZD4_ENST00000544474.1_Missense_Mutation_p.A479T|PDZD4_ENST00000393758.2_Missense_Mutation_p.A513T	NM_032512.2	NP_115901.2	Q76G19	PDZD4_HUMAN	PDZ domain containing 4	588						cell cortex				breast(3)|cervix(1)|endometrium(5)|lung(13)|skin(1)	23	all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CGCGTCGGGGCCAGCTGCACG	0.756													4	8					0	0	1	0	0	T	153069356	C	T	153069356	3	4	349	1	0	0	0	0	1	0	0	0	11750	739	26	2	551	2	PDZD4	23	153069356	Missense_Mutation	SNP	C	TCGA-KT-A7W1-01A-11D-A34A-08	17243418	153069356	2201204	50	31505											
ARHGAP4	393	broad.mit.edu	37	X	153173283	153173283	+	Missense_Mutation	SNP	C	C	T	rs34514067		TCGA-KT-A7W1-01A-11D-A34A-08	TCGA-KT-A7W1-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a253047-19f9-4c91-8ed2-685834f35809	df20f47a-d634-43f1-a0ce-cb055ecb4537	g.chrX:153173283C>T	ENST00000370028.3	-	23	2918	c.2861G>A	c.(2860-2862)cGc>cAc	p.R954H	ARHGAP4_ENST00000350060.5_Missense_Mutation_p.R914H|ARHGAP4_ENST00000537206.1_Missense_Mutation_p.R891H|ARHGAP4_ENST00000370016.1_Missense_Mutation_p.R893H|ARHGAP4_ENST00000393721.1_Missense_Mutation_p.R736H	NM_001164741.1	NP_001158213.1	P98171	RHG04_HUMAN	Rho GTPase activating protein 4	914					apoptosis|cytoskeleton organization|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|Rho protein signal transduction	cytosol|focal adhesion|nucleus	Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCTGCCCAGGCGGCTGCTGGG	0.687													35	19					0	0	1	0	0	T	153173283	C	T	153173283	3	4	349	1	0	0	0	0	1	0	0	0	882	768	27	1	103	1	ARHGAP4	23	153173283	Missense_Mutation	SNP	C	TCGA-KT-A7W1-01A-11D-A34A-08	103927	153173283	2097277	51	31506											
HCFC1	3054	broad.mit.edu	37	X	153217982	153217982	+	Missense_Mutation	SNP	G	G	A			TCGA-KT-A7W1-01A-11D-A34A-08	TCGA-KT-A7W1-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a253047-19f9-4c91-8ed2-685834f35809	df20f47a-d634-43f1-a0ce-cb055ecb4537	g.chrX:153217982G>A	ENST00000310441.7	-	19	5891	c.4925C>T	c.(4924-4926)gCg>gTg	p.A1642V	HCFC1_ENST00000369984.4_Missense_Mutation_p.A1686V|HCFC1_ENST00000354233.3_Missense_Mutation_p.A1573V	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1 (VP16-accessory protein)	1642					cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GGCCTGCTGCGCGGCCTGGAG	0.716													16	16					0	0	1	0	0	A	153217982	G	A	153217982	3	1	349	1	0	0	0	0	1	0	0	0	7032	1087	38	1	1214	1	HCFC1	23	153217982	Missense_Mutation	SNP	G	TCGA-KT-A7W1-01A-11D-A34A-08	44699	153217982	2052578	52	31507											
NEB	4703	broad.mit.edu	37	2	152409936	152409936	+	Silent	SNP	C	C	T			TCGA-P5-A5ET-01A-11D-A27K-08	TCGA-P5-A5ET-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	236fee8c-7daa-4486-9f81-62c185c37644	01325296-d7a6-46e7-bd59-30809d85a1cf	g.chr2:152409936C>T	ENST00000397345.3	-	127	19909	c.19707G>A	c.(19705-19707)aaG>aaA	p.K6569K	NEB_ENST00000604864.1_Silent_p.K6569K|NEB_ENST00000409198.1_Silent_p.K4868K|NEB_ENST00000603639.1_Silent_p.K6569K|NEB_ENST00000427231.2_Silent_p.K6569K|NEB_ENST00000172853.10_Silent_p.K4868K	NM_001164508.1	NP_001157980	P20929	NEBU_HUMAN	nebulin	4868	Interaction with SVIL.				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CATAAGCATGCTTGGCATGGA	0.398													26	48					0	0	1	0	0	T	152409936	C	T	152409936	2	4	350	1	0	0	0	0	0	0	0	1	10349	796	28	2		2	NEB	2	152409936	Silent	SNP	C	TCGA-P5-A5ET-01A-11D-A27K-08		152409936	90789437	1	31508											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-P5-A5ET-01A-11D-A27K-08	TCGA-P5-A5ET-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	236fee8c-7daa-4486-9f81-62c185c37644	01325296-d7a6-46e7-bd59-30809d85a1cf	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	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								20	35					0	0	1	0	0	T	209113112	C	T	209113112	3	4	350	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-P5-A5ET-01A-11D-A27K-08	56703176	209113112	34086261	2	31509											
TREX1	11277	broad.mit.edu	37	3	48508260	48508261	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-P5-A5ET-01A-11D-A27K-08	TCGA-P5-A5ET-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	236fee8c-7daa-4486-9f81-62c185c37644	01325296-d7a6-46e7-bd59-30809d85a1cf	g.chr3:48508260_48508261delTG	ENST00000296443.9	+	3	1093_1094	c.206_207delTG	c.(205-207)ctgfs	p.L69fs	TREX1_ENST00000492235.1_3'UTR|TREX1_ENST00000456089.1_Intron|TREX1_ENST00000436480.2_Frame_Shift_Del_p.L69fs|TREX1_ENST00000444177.1_Frame_Shift_Del_p.L59fs|TREX1_ENST00000422277.2_Frame_Shift_Del_p.L124fs|TREX1_ENST00000433541.1_5'UTR			Q9NSU2	TREX1_HUMAN	three prime repair exonuclease 1	124					cell death|DNA recombination|DNA replication|mismatch repair	nuclear envelope	3'-5'-exodeoxyribonuclease activity|exodeoxyribonuclease III activity|metal ion binding|MutLalpha complex binding|MutSalpha complex binding|protein homodimerization activity|single-stranded DNA binding			breast(1)|kidney(1)|large_intestine(1)|lung(3)|skin(3)	9				BRCA - Breast invasive adenocarcinoma(193;0.000286)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		AAGCTCTCCCTGTGTGTGGCTC	0.634													67	146	---	---	---	---						-	48508261	TG	-	48508260	7	5	350	1	0	1	0	1	0	0	0	0	16537	1580	55	0	373	0	TREX1	3	48508260	Frame_Shift_Del	DEL	TG	TCGA-P5-A5ET-01A-11D-A27K-08		48508260	149514170	3	31510											
ZBTB20	26137	broad.mit.edu	37	3	114058232	114058234	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-P5-A5ET-01A-11D-A27K-08	TCGA-P5-A5ET-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	236fee8c-7daa-4486-9f81-62c185c37644	01325296-d7a6-46e7-bd59-30809d85a1cf	g.chr3:114058232_114058234delAGA	ENST00000462705.1	-	12	2446_2448	c.1625_1627delTCT	c.(1624-1629)ttctcc>tcc	p.F542del	ZBTB20_ENST00000474710.1_In_Frame_Del_p.F615del|ZBTB20_ENST00000393785.2_In_Frame_Del_p.F542del|ZBTB20_ENST00000471418.1_In_Frame_Del_p.F542del|ZBTB20_ENST00000481632.1_In_Frame_Del_p.F542del|ZBTB20_ENST00000357258.3_In_Frame_Del_p.F542del|ZBTB20_ENST00000464560.1_In_Frame_Del_p.F542del	NM_001164343.1	NP_001157815.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	615					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		TCCTTTAAGGAGAAGGAGCGCCA	0.502													28	68	---	---	---	---						-	114058234	AGA	-	114058232	7	5	350	1	0	1	0	1	0	0	0	0	17588	304	11	0	383	0	ZBTB20	3	114058232	In_Frame_Del	DEL	AGA	TCGA-P5-A5ET-01A-11D-A27K-08	65549972	114058232	83964198	4	31511											
MBD4	8930	broad.mit.edu	37	3	129155397	129155399	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-P5-A5ET-01A-11D-A27K-08	TCGA-P5-A5ET-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	236fee8c-7daa-4486-9f81-62c185c37644	01325296-d7a6-46e7-bd59-30809d85a1cf	g.chr3:129155397_129155399delCTT	ENST00000429544.2	-	3	1283_1285	c.1088_1090delAAG	c.(1087-1092)gaagtt>gtt	p.E363del	MBD4_ENST00000507208.1_In_Frame_Del_p.E363del|MBD4_ENST00000503197.1_In_Frame_Del_p.E363del|MBD4_ENST00000393278.2_Intron|MBD4_ENST00000249910.1_In_Frame_Del_p.E363del|MBD4_ENST00000509587.1_Intron	NM_001276270.1	NP_001263199.1	O95243	MBD4_HUMAN	methyl-CpG binding domain protein 4	363					depyrimidination	nucleoplasm	DNA N-glycosylase activity|endodeoxyribonuclease activity|protein binding|satellite DNA binding			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)	22						CTTTCCACAACTTCTACTTTTGT	0.384								Base excision repair (BER), DNA glycosylases					24	53	---	---	---	---						-	129155399	CTT	-	129155397	7	5	350	1	0	1	0	1	0	0	0	0	9396	565	20	0	676	0	MBD4	3	129155397	In_Frame_Del	DEL	CTT	TCGA-P5-A5ET-01A-11D-A27K-08	15097165	129155397	68867033	5	31512											
EIF4G1	1981	broad.mit.edu	37	3	184042726	184042726	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A5ET-01A-11D-A27K-08	TCGA-P5-A5ET-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	236fee8c-7daa-4486-9f81-62c185c37644	01325296-d7a6-46e7-bd59-30809d85a1cf	g.chr3:184042726C>T	ENST00000342981.4	+	17	3097	c.2683C>T	c.(2683-2685)Cgc>Tgc	p.R895C	EIF4G1_ENST00000414031.1_Missense_Mutation_p.R854C|EIF4G1_ENST00000352767.3_Missense_Mutation_p.R901C|EIF4G1_ENST00000382330.3_Missense_Mutation_p.R901C|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000434061.2_Missense_Mutation_p.R699C|EIF4G1_ENST00000441154.1_Missense_Mutation_p.R731C|EIF4G1_ENST00000392537.2_Missense_Mutation_p.R807C|EIF4G1_ENST00000411531.1_Missense_Mutation_p.R855C|EIF4G1_ENST00000350481.5_Missense_Mutation_p.R730C|EIF4G1_ENST00000424196.1_Missense_Mutation_p.R901C|EIF4G1_ENST00000319274.6_Missense_Mutation_p.R894C|EIF4G1_ENST00000346169.2_Missense_Mutation_p.R894C|EIF4G1_ENST00000435046.2_Missense_Mutation_p.R698C|EIF4G1_ENST00000427845.1_Missense_Mutation_p.R808C	NM_182917.4	NP_886553	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	894	eIF3/EIF4A-binding.				insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			AGCCCGGCGGCGCTCTTTAGG	0.478													4	140					0	0	1	0	0	T	184042726	C	T	184042726	3	4	350	1	0	0	0	0	1	0	0	0	5064	768	27	1	2742	1	EIF4G1	3	184042726	Missense_Mutation	SNP	C	TCGA-P5-A5ET-01A-11D-A27K-08	54887329	184042726	13979704	6	31513											
IL6ST	3572	broad.mit.edu	37	5	55259245	55259245	+	Missense_Mutation	SNP	T	T	G			TCGA-P5-A5ET-01A-11D-A27K-08	TCGA-P5-A5ET-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	236fee8c-7daa-4486-9f81-62c185c37644	01325296-d7a6-46e7-bd59-30809d85a1cf	g.chr5:55259245T>G	ENST00000381298.2	-	7	1060	c.748A>C	c.(748-750)Aag>Cag	p.K250Q	IL6ST_ENST00000381287.4_Missense_Mutation_p.K250Q|IL6ST_ENST00000522633.2_Missense_Mutation_p.K250Q|IL6ST_ENST00000336909.5_Missense_Mutation_p.K250Q|IL6ST_ENST00000381286.3_Intron|IL6ST_ENST00000502326.3_Missense_Mutation_p.K250Q|IL6ST_ENST00000381293.2_Missense_Mutation_p.K84Q|IL6ST_ENST00000381294.3_Missense_Mutation_p.K250Q|IL6ST_ENST00000536319.1_Missense_Mutation_p.K250Q	NM_001190981.1|NM_002184.3|NM_175767.2	NP_001177910.1|NP_002175.2|NP_786943.1	P40189	IL6RB_HUMAN	interleukin 6 signal transducer (gp130, oncostatin M receptor)	250	Fibronectin type-III 2.				interleukin-6-mediated signaling pathway|leukemia inhibitory factor signaling pathway|negative regulation of interleukin-6-mediated signaling pathway|positive regulation of anti-apoptosis|positive regulation of cardiac muscle hypertrophy|positive regulation of osteoblast differentiation|positive regulation of T cell proliferation|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation vascular endothelial growth factor production	ciliary neurotrophic factor receptor complex|extracellular region|extracellular space|interleukin-6 receptor complex|oncostatin-M receptor complex	ciliary neurotrophic factor receptor activity|ciliary neurotrophic factor receptor binding|growth factor binding|protein homodimerization activity			breast(2)|endometrium(5)|kidney(5)|large_intestine(4)|liver(2)|lung(1)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223)				ATAACACTCTTAATACTTGGG	0.343			O		hepatocellular ca								5	38					0	0	1	0	0	G	55259245	T	G	55259245	3	3	350	1	0	0	0	0	1	0	0	0	7747	1763	61	5	2052	5	IL6ST	5	55259245	Missense_Mutation	SNP	T	TCGA-P5-A5ET-01A-11D-A27K-08		55259245	125656015	7	31514											
DST	667	broad.mit.edu	37	6	56336894	56336896	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-P5-A5ET-01A-11D-A27K-08	TCGA-P5-A5ET-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	236fee8c-7daa-4486-9f81-62c185c37644	01325296-d7a6-46e7-bd59-30809d85a1cf	g.chr6:56336894_56336896delCTT	ENST00000370754.5	-	94	22025_22027	c.22026_22028delAAG	c.(22024-22029)agaagg>agg	p.7342_7343RR>R	DST_ENST00000370788.2_In_Frame_Del_p.4967_4968RR>R|DST_ENST00000446842.2_In_Frame_Del_p.6838_6839RR>R|DST_ENST00000421834.2_Intron|DST_ENST00000370769.4_In_Frame_Del_p.7164_7165RR>R|DST_ENST00000244364.6_In_Frame_Del_p.4750_4751RR>R|DST_ENST00000312431.6_3'UTR|DST_ENST00000361203.3_In_Frame_Del_p.7053_7054RR>R			Q03001	DYST_HUMAN	dystonin	7162	GAR.				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			GAGTTTCCTCCTTCTTTCCAACG	0.453													47	103	---	---	---	---						-	56336896	CTT	-	56336894	7	5	350	1	0	1	0	1	0	0	0	0	4809	681	24	0	1303	0	DST	6	56336894	In_Frame_Del	DEL	CTT	TCGA-P5-A5ET-01A-11D-A27K-08		56336894	114778173	8	31515											
MYO6	4646	broad.mit.edu	37	6	76604544	76604544	+	Frame_Shift_Del	DEL	C	C	-			TCGA-P5-A5ET-01A-11D-A27K-08	TCGA-P5-A5ET-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	236fee8c-7daa-4486-9f81-62c185c37644	01325296-d7a6-46e7-bd59-30809d85a1cf	g.chr6:76604544delC	ENST00000369981.3	+	29	3403	c.3124delC	c.(3124-3126)ccgfs	p.P1042fs	MYO6_ENST00000369985.4_Intron|MYO6_ENST00000369977.3_Intron|MYO6_ENST00000369975.1_Intron			Q9UM54	MYO6_HUMAN	myosin VI	1042					actin filament-based movement|DNA damage response, signal transduction by p53 class mediator|endocytosis|intracellular protein transport|positive regulation of transcription from RNA polymerase II promoter|regulation of secretion|sensory perception of sound|synaptic transmission	cell cortex|clathrin coated vesicle membrane|coated pit|cytosol|DNA-directed RNA polymerase II, holoenzyme|filamentous actin|Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|ruffle membrane|unconventional myosin complex	actin filament binding|ADP binding|ATP binding|calmodulin binding|minus-end directed microfilament motor activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	58		all_hematologic(105;0.189)		BRCA - Breast invasive adenocarcinoma(397;0.223)		GGATTCCTATCCGGTAACTTC	0.289													2	4	---	---	---	---						-	76604544	C	-	76604544	7	5	350	1	0	1	0	1	0	0	0	0	10129	870	30	0		0	MYO6	6	76604544	Frame_Shift_Del	DEL	C	TCGA-P5-A5ET-01A-11D-A27K-08	20267650	76604544	94510523	9	31516											
MAP3K4	4216	broad.mit.edu	37	6	161528964	161528964	+	Missense_Mutation	SNP	T	T	G			TCGA-P5-A5ET-01A-11D-A27K-08	TCGA-P5-A5ET-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	236fee8c-7daa-4486-9f81-62c185c37644	01325296-d7a6-46e7-bd59-30809d85a1cf	g.chr6:161528964T>G	ENST00000392142.4	+	21	4230	c.4082T>G	c.(4081-4083)aTc>aGc	p.I1361S	MAP3K4_ENST00000348824.7_Missense_Mutation_p.I1307S|MAP3K4_ENST00000366919.2_Missense_Mutation_p.I1311S|MAP3K4_ENST00000366920.2_Missense_Mutation_p.I1357S	NM_005922.2	NP_005913	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	1361	Protein kinase.				activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		TACACCTGCATCAGCGTCGAC	0.552													6	71					0	0	1	0	0	G	161528964	T	G	161528964	3	3	350	1	0	0	0	0	1	0	0	0	9302	1435	50	4	4164	4	MAP3K4	6	161528964	Missense_Mutation	SNP	T	TCGA-P5-A5ET-01A-11D-A27K-08	84924420	161528964	9586103	10	31517											
DLL1	28514	broad.mit.edu	37	6	170594119	170594119	+	Silent	SNP	A	A	C			TCGA-P5-A5ET-01A-11D-A27K-08	TCGA-P5-A5ET-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	236fee8c-7daa-4486-9f81-62c185c37644	01325296-d7a6-46e7-bd59-30809d85a1cf	g.chr6:170594119A>C	ENST00000366756.3	-	8	1470	c.1137T>G	c.(1135-1137)ggT>ggG	p.G379G		NM_005618.3	NP_005609.3	O00548	DLL1_HUMAN	delta-like 1 (Drosophila)	379	EGF-like 5.				cell communication|cell fate determination|hemopoiesis|Notch receptor processing|Notch signaling pathway|regulation of cell adhesion	extracellular region|integral to plasma membrane	calcium ion binding|Notch binding			NS(2)|breast(1)|endometrium(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	33		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;6.71e-23)|BRCA - Breast invasive adenocarcinoma(81;4.81e-06)|GBM - Glioblastoma multiforme(31;0.0584)		CTGAGCACCGACCCCCGTTAA	0.577													6	89					0	0	1	0	0	C	170594119	A	C	170594119	2	2	350	1	0	0	0	0	0	0	0	1	4594	262	10	5		5	DLL1	6	170594119	Silent	SNP	A	TCGA-P5-A5ET-01A-11D-A27K-08	9065155	170594119	520948	11	31518											
ABCB1	5243	broad.mit.edu	37	7	87170760	87170762	+	In_Frame_Del	DEL	ATC	ATC	-			TCGA-P5-A5ET-01A-11D-A27K-08	TCGA-P5-A5ET-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	236fee8c-7daa-4486-9f81-62c185c37644	01325296-d7a6-46e7-bd59-30809d85a1cf	g.chr7:87170760_87170762delATC	ENST00000265724.3	-	19	2647_2649	c.2230_2232delGAT	c.(2230-2232)gatdel	p.D744del	ABCB1_ENST00000543898.1_In_Frame_Del_p.D680del	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	744	ABC transmembrane type-1 2.				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	TTGTTTCAGGATCATCAATTCTT	0.355													10	79	---	---	---	---						-	87170762	ATC	-	87170760	7	5	350	1	0	1	0	1	0	0	0	0	40	330	12	0	1654	0	ABCB1	7	87170760	In_Frame_Del	DEL	ATC	TCGA-P5-A5ET-01A-11D-A27K-08		87170760	71967903	12	31519											
HBP1	26959	broad.mit.edu	37	7	106836571	106836571	+	Missense_Mutation	SNP	C	C	G			TCGA-P5-A5ET-01A-11D-A27K-08	TCGA-P5-A5ET-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	236fee8c-7daa-4486-9f81-62c185c37644	01325296-d7a6-46e7-bd59-30809d85a1cf	g.chr7:106836571C>G	ENST00000222574.4	+	9	1546	c.1360C>G	c.(1360-1362)Cag>Gag	p.Q454E	HBP1_ENST00000468410.1_Missense_Mutation_p.Q454E|HBP1_ENST00000461963.1_3'UTR|HBP1_ENST00000485846.1_Missense_Mutation_p.Q454E	NM_012257.3	NP_036389.2	O60381	HBP1_HUMAN	HMG-box transcription factor 1	454					cell cycle arrest|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	DNA binding			large_intestine(4)|lung(3)|prostate(1)|skin(2)	10						TGAATATACTCAGATGTATCC	0.363													20	31					0	0	1	0	0	G	106836571	C	G	106836571	3	3	350	1	0	0	0	0	1	0	0	0	7026	827	29	5	1390	5	HBP1	7	106836571	Missense_Mutation	SNP	C	TCGA-P5-A5ET-01A-11D-A27K-08	19665811	106836571	52302092	13	31520											
DOK2	9046	broad.mit.edu	37	8	21769438	21769438	+	Frame_Shift_Del	DEL	T	T	-			TCGA-P5-A5ET-01A-11D-A27K-08	TCGA-P5-A5ET-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	236fee8c-7daa-4486-9f81-62c185c37644	01325296-d7a6-46e7-bd59-30809d85a1cf	g.chr8:21769438delT	ENST00000276420.4	-	3	665	c.407delA	c.(406-408)aatfs	p.N136fs	DOK2_ENST00000544659.1_Intron	NM_003974.2	NP_003965.2	O60496	DOK2_HUMAN	docking protein 2, 56kDa	136					blood coagulation|leukocyte migration	cytosol	identical protein binding|insulin receptor binding			NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(3)|skin(1)	26				Colorectal(74;0.0145)|COAD - Colon adenocarcinoma(73;0.0608)		GTACAATTCATTTTCCTCCAT	0.667													2	4	---	---	---	---						-	21769438	T	-	21769438	7	5	350	1	0	1	0	1	0	0	0	0	4724	1493	52	0	843	0	DOK2	8	21769438	Frame_Shift_Del	DEL	T	TCGA-P5-A5ET-01A-11D-A27K-08		21769438	124594584	14	31521											
EFR3A	23167	broad.mit.edu	37	8	132968053	132968055	+	In_Frame_Del	DEL	AAG	AAG	-	rs138896182		TCGA-P5-A5ET-01A-11D-A27K-08	TCGA-P5-A5ET-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	236fee8c-7daa-4486-9f81-62c185c37644	01325296-d7a6-46e7-bd59-30809d85a1cf	g.chr8:132968053_132968055delAAG	ENST00000254624.5	+	7	902_904	c.677_679delAAG	c.(676-681)aaagaa>aaa	p.E228del	EFR3A_ENST00000519656.1_In_Frame_Del_p.E192del|EFR3A_ENST00000334503.4_In_Frame_Del_p.E228del	NM_015137.4	NP_055952.2	Q14156	EFR3A_HUMAN	EFR3 homolog A (S. cerevisiae)	228						plasma membrane	binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|skin(1)|stomach(2)	35	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102)			GCAACTGACAAAGAAGAGAATCC	0.384													35	107	---	---	---	---						-	132968055	AAG	-	132968053	7	5	350	1	0	1	0	1	0	0	0	0	4984	14	1	0	703	0	EFR3A	8	132968053	In_Frame_Del	DEL	AAG	TCGA-P5-A5ET-01A-11D-A27K-08	111198615	132968053	13395969	15	31522											
MAPK15	225689	broad.mit.edu	37	8	144803509	144803509	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A5ET-01A-11D-A27K-08	TCGA-P5-A5ET-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	236fee8c-7daa-4486-9f81-62c185c37644	01325296-d7a6-46e7-bd59-30809d85a1cf	g.chr8:144803509C>T	ENST00000338033.4	+	11	1251	c.1132C>T	c.(1132-1134)Cct>Tct	p.P378S		NM_139021.2	NP_620590.2	Q8TD08	MK15_HUMAN	mitogen-activated protein kinase 15	378					protein autophosphorylation	extracellular region	ATP binding|MAP kinase activity|SH3 domain binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|stomach(1)	12	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			CCCTCAGCTGCCTTCTAGGAC	0.672													63	95					0	0	1	0	0	T	144803509	C	T	144803509	3	4	350	1	0	0	0	0	1	0	0	0	9327	739	26	2	1174	2	MAPK15	8	144803509	Missense_Mutation	SNP	C	TCGA-P5-A5ET-01A-11D-A27K-08	11835456	144803509	1560513	16	31523											
NOTCH1	4851	broad.mit.edu	37	9	139413129	139413131	+	In_Frame_Del	DEL	TCA	TCA	-			TCGA-P5-A5ET-01A-11D-A27K-08	TCGA-P5-A5ET-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	236fee8c-7daa-4486-9f81-62c185c37644	01325296-d7a6-46e7-bd59-30809d85a1cf	g.chr9:139413129_139413131delTCA	ENST00000277541.6	-	6	1086_1088	c.1011_1013delTGA	c.(1009-1014)gatgac>gac	p.337_338DD>D		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	337	EGF-like 9; calcium-binding (Potential).				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GCTGGCACAGTCATCAATGTTCT	0.631			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			14	46	---	---	---	---						-	139413131	TCA	-	139413129	7	5	350	1	0	1	0	1	0	0	0	0	10594	1667	58	0	6770	0	NOTCH1	9	139413129	In_Frame_Del	DEL	TCA	TCGA-P5-A5ET-01A-11D-A27K-08		139413129	1800302	17	31524											
PRKCQ	5588	broad.mit.edu	37	10	6472890	6472890	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A5ET-01A-11D-A27K-08	TCGA-P5-A5ET-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	236fee8c-7daa-4486-9f81-62c185c37644	01325296-d7a6-46e7-bd59-30809d85a1cf	g.chr10:6472890C>T	ENST00000263125.5	-	17	1946	c.1847G>A	c.(1846-1848)cGa>cAa	p.R616Q	PRKCQ_ENST00000539722.1_Missense_Mutation_p.R491Q|PRKCQ_ENST00000397176.2_Missense_Mutation_p.R553Q	NM_001282644.1|NM_006257.3	NP_001269573.1|NP_006248.1	Q04759	KPCT_HUMAN	protein kinase C, theta	616	Protein kinase.				axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth|T cell receptor signaling pathway	cytosol	ATP binding|metal ion binding|protein binding|protein kinase C activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2)	45						CTCAGGTTCTCGCACGAAGAG	0.587													20	36					0	0	1	0	0	T	6472890	C	T	6472890	3	4	350	1	0	0	0	0	1	0	0	0	12567	884	31	1	281	1	PRKCQ	10	6472890	Missense_Mutation	SNP	C	TCGA-P5-A5ET-01A-11D-A27K-08		6472890	129061857	18	31525											
JMJD1C	221037	broad.mit.edu	37	10	64968101	64968101	+	Missense_Mutation	SNP	G	G	T			TCGA-P5-A5ET-01A-11D-A27K-08	TCGA-P5-A5ET-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	236fee8c-7daa-4486-9f81-62c185c37644	01325296-d7a6-46e7-bd59-30809d85a1cf	g.chr10:64968101G>T	ENST00000399262.2	-	10	3546	c.3328C>A	c.(3328-3330)Cca>Aca	p.P1110T	JMJD1C_ENST00000399251.1_Missense_Mutation_p.P891T|JMJD1C_ENST00000402544.1_Missense_Mutation_p.P891T|JMJD1C_ENST00000542921.1_Missense_Mutation_p.P928T	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	1110					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					TCTTTGGATGGGTATGATCTT	0.383													4	185					0.150653	0.150653	1	1	0	T	64968101	G	T	64968101	3	4	350	1	0	0	0	0	1	0	0	0	7994	1232	43	5	4362	5	JMJD1C	10	64968101	Missense_Mutation	SNP	G	TCGA-P5-A5ET-01A-11D-A27K-08	58495211	64968101	70566646	19	31526											
ATG2A	23130	broad.mit.edu	37	11	64665787	64665787	+	Silent	SNP	C	C	T			TCGA-P5-A5ET-01A-11D-A27K-08	TCGA-P5-A5ET-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	236fee8c-7daa-4486-9f81-62c185c37644	01325296-d7a6-46e7-bd59-30809d85a1cf	g.chr11:64665787C>T	ENST00000421419.2	-	33	4839	c.4725G>A	c.(4723-4725)ggG>ggA	p.G1575G	ATG2A_ENST00000377264.3_Silent_p.G1573G			Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	1573							protein binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						AGCACTCAGGCCCACCCAGGT	0.637											OREG0004029	type=REGULATORY REGION|Gene=BC033850|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	15	16					0	0	1	0	0	T	64665787	C	T	64665787	2	4	350	1	0	0	0	0	0	0	0	1	1092	726	26	2		2	ATG2A	11	64665787	Silent	SNP	C	TCGA-P5-A5ET-01A-11D-A27K-08		64665787	70340729	20	31527											
SPTBN2	6712	broad.mit.edu	37	11	66454995	66454995	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A5ET-01A-11D-A27K-08	TCGA-P5-A5ET-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	236fee8c-7daa-4486-9f81-62c185c37644	01325296-d7a6-46e7-bd59-30809d85a1cf	g.chr11:66454995G>A	ENST00000533211.1	-	35	6956	c.6625C>T	c.(6625-6627)Ccg>Tcg	p.P2209S	SPTBN2_ENST00000309996.2_Missense_Mutation_p.P2209S|SPTBN2_ENST00000529997.1_Missense_Mutation_p.P2209S			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	2209					actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						CCTCGAGGCGGCAGGGTGGCA	0.672													5	120					0	0	1	0	0	A	66454995	G	A	66454995	3	1	350	1	0	0	0	0	1	0	0	0	15176	1203	42	2	563	2	SPTBN2	11	66454995	Missense_Mutation	SNP	G	TCGA-P5-A5ET-01A-11D-A27K-08	1789208	66454995	68551521	21	31528											
TCIRG1	10312	broad.mit.edu	37	11	67816587	67816587	+	Silent	SNP	G	G	T			TCGA-P5-A5ET-01A-11D-A27K-08	TCGA-P5-A5ET-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	236fee8c-7daa-4486-9f81-62c185c37644	01325296-d7a6-46e7-bd59-30809d85a1cf	g.chr11:67816587G>T	ENST00000265686.3	+	15	1821	c.1713G>T	c.(1711-1713)ctG>ctT	p.L571L	TCIRG1_ENST00000532635.1_Silent_p.L355L	NM_006019.3	NP_006010.2	Q13488	VPP3_HUMAN	T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3	571					ATP hydrolysis coupled proton transport|cellular defense response|cellular iron ion homeostasis|insulin receptor signaling pathway|positive regulation of cell proliferation|transferrin transport	apical plasma membrane|endosome membrane|integral to plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	hydrogen ion transmembrane transporter activity			breast(1)|endometrium(4)|large_intestine(3)|lung(4)|ovary(3)|prostate(1)	16						TGGAGACGCTGCCGGAGCTCA	0.667													5	185					0.00116845	0.00119766	1	1	0	T	67816587	G	T	67816587	2	4	350	1	0	0	0	0	0	0	0	1	15763	1306	46	5		5	TCIRG1	11	67816587	Silent	SNP	G	TCGA-P5-A5ET-01A-11D-A27K-08	1361592	67816587	67189929	22	31529											
ARHGEF12	23365	broad.mit.edu	37	11	120312904	120312904	+	Missense_Mutation	SNP	G	G	T			TCGA-P5-A5ET-01A-11D-A27K-08	TCGA-P5-A5ET-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	236fee8c-7daa-4486-9f81-62c185c37644	01325296-d7a6-46e7-bd59-30809d85a1cf	g.chr11:120312904G>T	ENST00000397843.2	+	15	1461	c.1295G>T	c.(1294-1296)cGa>cTa	p.R432L	ARHGEF12_ENST00000356641.3_Missense_Mutation_p.R413L|ARHGEF12_ENST00000532993.1_Missense_Mutation_p.R329L	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	432	RGSL.				apoptosis|axon guidance|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		TTTCTAGATCGATCAGCAGTA	0.388			T	MLL	AML								10	16					0.000673444	0.00070798	1	1	0	T	120312904	G	T	120312904	3	4	350	1	0	0	0	0	1	0	0	0	894	1058	37	5	1353	5	ARHGEF12	11	120312904	Missense_Mutation	SNP	G	TCGA-P5-A5ET-01A-11D-A27K-08	52496317	120312904	14693612	23	31530											
LDHB	3945	broad.mit.edu	37	12	21797028	21797028	+	Missense_Mutation	SNP	C	C	T	rs145369309		TCGA-P5-A5ET-01A-11D-A27K-08	TCGA-P5-A5ET-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	236fee8c-7daa-4486-9f81-62c185c37644	01325296-d7a6-46e7-bd59-30809d85a1cf	g.chr12:21797028C>T	ENST00000396076.1	-	4	594	c.262G>A	c.(262-264)Gcc>Acc	p.A88T	LDHB_ENST00000350669.1_Missense_Mutation_p.A88T	NM_001174097.1	NP_001167568.1	P07195	LDHB_HUMAN	lactate dehydrogenase B	88					glycolysis|pyruvate metabolic process	cytosol	L-lactate dehydrogenase activity			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	26					NADH(DB00157)	TTAGAATTGGCAGTCACAGAA	0.373													3	49					0	0	1	0	0	T	21797028	C	T	21797028	3	4	350	1	0	0	0	0	1	0	0	0	8740	710	25	2	762	2	LDHB	12	21797028	Missense_Mutation	SNP	C	TCGA-P5-A5ET-01A-11D-A27K-08		21797028	112054867	24	31531											
EP400	57634	broad.mit.edu	37	12	132547108	132547108	+	Silent	SNP	G	G	A			TCGA-P5-A5ET-01A-11D-A27K-08	TCGA-P5-A5ET-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	236fee8c-7daa-4486-9f81-62c185c37644	01325296-d7a6-46e7-bd59-30809d85a1cf	g.chr12:132547108G>A	ENST00000333577.4	+	48	8413	c.8304G>A	c.(8302-8304)caG>caA	p.Q2768Q	EP400_ENST00000330386.6_Silent_p.Q2651Q|EP400_ENST00000332482.4_Silent_p.Q2695Q|EP400_ENST00000389561.2_Silent_p.Q2732Q|EP400_ENST00000389562.2_Silent_p.Q2731Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2768	Interaction with ZNF42 (By similarity).|Poly-Gln.				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcagcagcagcagcagc	0.587													4	67					0	0	1	0	0	A	132547108	G	A	132547108	2	1	350	1	0	0	0	0	0	0	0	1	5177	962	34	2		2	EP400	12	132547108	Silent	SNP	G	TCGA-P5-A5ET-01A-11D-A27K-08	110750080	132547108	1304787	25	31532											
JPH3	57338	broad.mit.edu	37	16	87678405	87678405	+	Silent	SNP	G	G	A			TCGA-P5-A5ET-01A-11D-A27K-08	TCGA-P5-A5ET-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	236fee8c-7daa-4486-9f81-62c185c37644	01325296-d7a6-46e7-bd59-30809d85a1cf	g.chr16:87678405G>A	ENST00000284262.2	+	2	1166	c.924G>A	c.(922-924)ggG>ggA	p.G308G		NM_020655.2	NP_065706.2	Q8WXH2	JPH3_HUMAN	junctophilin 3	308					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(80;0.0287)		GCTCGGACGGGCTCAAGTACG	0.642													4	101					0	0	1	0	0	A	87678405	G	A	87678405	2	1	350	1	0	0	0	0	0	0	0	1	8006	1190	42	2		2	JPH3	16	87678405	Silent	SNP	G	TCGA-P5-A5ET-01A-11D-A27K-08		87678405	2676348	26	31533											
MLLT6	4302	broad.mit.edu	37	17	36872811	36872811	+	Missense_Mutation	SNP	T	T	A			TCGA-P5-A5ET-01A-11D-A27K-08	TCGA-P5-A5ET-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	236fee8c-7daa-4486-9f81-62c185c37644	01325296-d7a6-46e7-bd59-30809d85a1cf	g.chr17:36872811T>A	ENST00000325718.7	+	10	1319	c.1228T>A	c.(1228-1230)Tcc>Acc	p.S410T	CTB-58E17.9_ENST00000579499.1_RNA	NM_005937.3	NP_005928	P55198	AF17_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6	410					regulation of transcription, DNA-dependent	nucleus	protein binding|zinc ion binding			breast(3)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8	Breast(7;4.43e-21)					CATGCGCTTCTCCACCACCAC	0.662			T	MLL	AL								38	78					0	0	1	0	0	A	36872811	T	A	36872811	3	1	350	1	0	0	0	0	1	0	0	0	9678	1551	54	5	1266	5	MLLT6	17	36872811	Missense_Mutation	SNP	T	TCGA-P5-A5ET-01A-11D-A27K-08		36872811	44322399	27	31534											
COIL	8161	broad.mit.edu	37	17	55038183	55038183	+	Missense_Mutation	SNP	C	C	G			TCGA-P5-A5ET-01A-11D-A27K-08	TCGA-P5-A5ET-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	236fee8c-7daa-4486-9f81-62c185c37644	01325296-d7a6-46e7-bd59-30809d85a1cf	g.chr17:55038183C>G	ENST00000240316.4	-	1	232	c.198G>C	c.(196-198)ttG>ttC	p.L66F		NM_004645.2	NP_004636.1	P38432	COIL_HUMAN	coilin	66						Cajal body|nucleolus	protein C-terminus binding			NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	15	Breast(9;6.15e-08)					CGGCGGGGGGCAAGAGCCCCC	0.697													7	10					0	0	1	0	0	G	55038183	C	G	55038183	3	3	350	1	0	0	0	0	1	0	0	0	3688	709	25	5	1560	5	COIL	17	55038183	Missense_Mutation	SNP	C	TCGA-P5-A5ET-01A-11D-A27K-08	18165372	55038183	26157027	28	31535											
TANC2	26115	broad.mit.edu	37	17	61498201	61498201	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A5ET-01A-11D-A27K-08	TCGA-P5-A5ET-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	236fee8c-7daa-4486-9f81-62c185c37644	01325296-d7a6-46e7-bd59-30809d85a1cf	g.chr17:61498201C>T	ENST00000424789.2	+	25	4862	c.4858C>T	c.(4858-4860)Cca>Tca	p.P1620S	RP11-269G24.3_ENST00000583552.1_RNA|TANC2_ENST00000389520.4_Missense_Mutation_p.P1630S	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	1620							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						CCAGCCCAGCCCAGCCGTCCA	0.577													44	110					0	0	1	0	0	T	61498201	C	T	61498201	3	4	350	1	0	0	0	0	1	0	0	0	15602	623	22	2	4956	2	TANC2	17	61498201	Missense_Mutation	SNP	C	TCGA-P5-A5ET-01A-11D-A27K-08	6460018	61498201	19697009	29	31536											
AMZ2	51321	broad.mit.edu	37	17	66246612	66246612	+	Splice_Site	SNP	G	G	A			TCGA-P5-A5ET-01A-11D-A27K-08	TCGA-P5-A5ET-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	236fee8c-7daa-4486-9f81-62c185c37644	01325296-d7a6-46e7-bd59-30809d85a1cf	g.chr17:66246612G>A	ENST00000359904.3	+	2	1415		c.e2+1		AMZ2_ENST00000577985.1_Splice_Site|AMZ2_ENST00000580753.1_Splice_Site|AMZ2_ENST00000392720.2_Splice_Site|AMZ2_ENST00000359783.4_Splice_Site|AMZ2_ENST00000577866.1_Splice_Site|AMZ2_ENST00000585050.1_Splice_Site|AMZ2_ENST00000577273.1_Splice_Site	NM_016627.4	NP_057711.3	Q86W34	AMZ2_HUMAN	archaelysin family metallopeptidase 2								metallopeptidase activity|zinc ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	9	all_cancers(12;1.12e-09)		BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)			CAGTCCATTGGTAAATACTGG	0.463													13	145					0	0	1	0	0	A	66246612	G	A	66246612	5	1	350	1	0	0	0	0	0	0	1	0	593	1275	44	2	286	2	AMZ2	17	66246612	Splice_Site	SNP	G	TCGA-P5-A5ET-01A-11D-A27K-08	4748411	66246612	14948598	30	31537											
SLC38A10	124565	broad.mit.edu	37	17	79219799	79219799	+	Nonsense_Mutation	SNP	G	G	A			TCGA-P5-A5ET-01A-11D-A27K-08	TCGA-P5-A5ET-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	236fee8c-7daa-4486-9f81-62c185c37644	01325296-d7a6-46e7-bd59-30809d85a1cf	g.chr17:79219799G>A	ENST00000374759.3	-	16	3300	c.2917C>T	c.(2917-2919)Cag>Tag	p.Q973*		NM_001037984.1	NP_001033073.1	Q9HBR0	S38AA_HUMAN	solute carrier family 38, member 10	973					amino acid transport|sodium ion transport	integral to membrane				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			CGGTGGCCCTGCTGTCCACCC	0.692													34	48					0	0	1	0	0	A	79219799	G	A	79219799	4	1	350	1	0	0	0	0	0	1	0	0	14657	1328	46	2	446	2	SLC38A10	17	79219799	Nonsense_Mutation	SNP	G	TCGA-P5-A5ET-01A-11D-A27K-08	12973187	79219799	1975411	31	31538											
DOT1L	84444	broad.mit.edu	37	19	2226268	2226268	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A5ET-01A-11D-A27K-08	TCGA-P5-A5ET-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	236fee8c-7daa-4486-9f81-62c185c37644	01325296-d7a6-46e7-bd59-30809d85a1cf	g.chr19:2226268G>A	ENST00000398665.3	+	27	3784	c.3748G>A	c.(3748-3750)Gac>Aac	p.D1250N		NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN	DOT1-like histone H3K79 methyltransferase	1250						nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42		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)		GCCCATCTCCGACATCGGCCT	0.677													3	31					0	0	1	0	0	A	2226268	G	A	2226268	3	1	350	1	0	0	0	0	1	0	0	0	4736	1058	37	1	3854	1	DOT1L	19	2226268	Missense_Mutation	SNP	G	TCGA-P5-A5ET-01A-11D-A27K-08		2226268	56902715	32	31539											
PRR19	284338	broad.mit.edu	37	19	42814088	42814088	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A5ET-01A-11D-A27K-08	TCGA-P5-A5ET-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	236fee8c-7daa-4486-9f81-62c185c37644	01325296-d7a6-46e7-bd59-30809d85a1cf	g.chr19:42814088C>T	ENST00000499536.2	+	1	1163	c.352C>T	c.(352-354)Cca>Tca	p.P118S	PRR19_ENST00000341747.3_Missense_Mutation_p.P118S|PRR19_ENST00000598490.1_Missense_Mutation_p.P118S			A6NJB7	PRR19_HUMAN	proline rich 19	118										NS(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	10		Prostate(69;0.00682)				GGAACCAGCCCCACGGTCCAG	0.672													5	22					0	0	1	0	0	T	42814088	C	T	42814088	3	4	350	1	0	0	0	0	1	0	0	0	12643	623	22	2	354	2	PRR19	19	42814088	Missense_Mutation	SNP	C	TCGA-P5-A5ET-01A-11D-A27K-08	40587820	42814088	16314895	33	31540											
GATSL3	652968	broad.mit.edu	37	22	30683477	30683477	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A5ET-01A-11D-A27K-08	TCGA-P5-A5ET-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	236fee8c-7daa-4486-9f81-62c185c37644	01325296-d7a6-46e7-bd59-30809d85a1cf	g.chr22:30683477C>T	ENST00000407689.3	-	3	386	c.257G>A	c.(256-258)gGt>gAt	p.G86D	GATSL3_ENST00000404953.3_Missense_Mutation_p.G86D|RP1-130H16.18_ENST00000447976.1_3'UTR	NM_001037666.2	NP_001032755.1			GATS protein-like 3											breast(1)|endometrium(1)|lung(1)	3						CACTGCCGCACCGCTGTGAGA	0.627											OREG0026457	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	21	35					0	0	1	0	0	T	30683477	C	T	30683477	3	4	350	1	0	0	0	0	1	0	0	0	6305	507	18	2	760	2	GATSL3	22	30683477	Missense_Mutation	SNP	C	TCGA-P5-A5ET-01A-11D-A27K-08		30683477	20621089	34	31541											
ZBED1	9189	broad.mit.edu	37	X	2406764	2406764	+	Missense_Mutation	SNP	T	T	C			TCGA-P5-A5ET-01A-11D-A27K-08	TCGA-P5-A5ET-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	236fee8c-7daa-4486-9f81-62c185c37644	01325296-d7a6-46e7-bd59-30809d85a1cf	g.chrX:2406764T>C	ENST00000381223.4	-	2	2200	c.1997A>G	c.(1996-1998)gAg>gGg	p.E666G	DHRSX_ENST00000334651.5_Intron|ZBED1_ENST00000381222.2_Missense_Mutation_p.E666G|ZBED1_ENST00000381218.3_Missense_Mutation_p.E666G|ZBED1_ENST00000515319.1_Intron	NM_001171135.1|NM_001171136.1|NM_004729.3	NP_001164606.1|NP_001164607.1|NP_004720.1	O96006	ZBED1_HUMAN	zinc finger, BED-type containing 1	666						nuclear chromosome	DNA binding|metal ion binding|protein dimerization activity|transposase activity			endometrium(8)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	25		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CAGGCCCCACTCCCCCTCGTC	0.647													4	144					0	0	1	0	0	C	2406764	T	C	2406764	3	2	350	1	0	0	0	0	1	0	0	0	17577	1551	54	3	91	3	ZBED1	23	2406764	Missense_Mutation	SNP	T	TCGA-P5-A5ET-01A-11D-A27K-08		2406764	152863796	35	31542											
C8A	731	broad.mit.edu	37	1	57341750	57341750	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A5EU-01A-11D-A27K-08	TCGA-P5-A5EU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090094cb-6e22-4409-938a-11d3107c33ef	f66ea56c-7053-4147-bb40-9cab955d5957	g.chr1:57341750G>A	ENST00000361249.3	+	4	428	c.332G>A	c.(331-333)cGc>cAc	p.R111H		NM_000562.2	NP_000553.1	P07357	CO8A_HUMAN	complement component 8, alpha polypeptide	111	LDL-receptor class A.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						TGCCTGAAACGCCACCTTGTG	0.542													16	38					0	0	1	0	0	A	57341750	G	A	57341750	3	1	351	1	0	0	0	0	1	0	0	0	2432	1087	38	1	346	1	C8A	1	57341750	Missense_Mutation	SNP	G	TCGA-P5-A5EU-01A-11D-A27K-08		57341750	191908871	1	31543											
RPE65	6121	broad.mit.edu	37	1	68904625	68904625	+	Splice_Site	SNP	C	C	A			TCGA-P5-A5EU-01A-11D-A27K-08	TCGA-P5-A5EU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090094cb-6e22-4409-938a-11d3107c33ef	f66ea56c-7053-4147-bb40-9cab955d5957	g.chr1:68904625C>A	ENST00000262340.5	-	9	1051	c.998G>T	c.(997-999)gGa>gTa	p.G333V		NM_000329.2	NP_000320.1	Q16518	RPE65_HUMAN	retinal pigment epithelium-specific protein 65kDa	333					visual perception	cytoplasm|plasma membrane	all-trans-retinyl-palmitate hydrolase activity|metal ion binding|retinol isomerase activity			central_nervous_system(1)|kidney(3)|large_intestine(12)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	35						CCTTTCTTACCCTTTCCAGCA	0.423													124	190					6.74356e-53	7.30552e-53	1	1	0	A	68904625	C	A	68904625	5	1	351	1	0	0	0	0	0	0	1	0	13597	637	22	5	627	5	RPE65	1	68904625	Splice_Site	SNP	C	TCGA-P5-A5EU-01A-11D-A27K-08	11562875	68904625	180345996	2	31544											
RSBN1	54665	broad.mit.edu	37	1	114308980	114308980	+	Silent	SNP	G	G	A			TCGA-P5-A5EU-01A-11D-A27K-08	TCGA-P5-A5EU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090094cb-6e22-4409-938a-11d3107c33ef	f66ea56c-7053-4147-bb40-9cab955d5957	g.chr1:114308980G>A	ENST00000261441.5	-	7	2094	c.2031C>T	c.(2029-2031)ttC>ttT	p.F677F	RSBN1_ENST00000369581.2_5'UTR	NM_018364.3	NP_060834.2	Q5VWQ0	RSBN1_HUMAN	round spermatid basic protein 1	677						nucleus		p.F677F(1)		breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(3)|urinary_tract(2)	29	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TTCTAGGGATGAAGTAGATAT	0.443													39	62					0	0	1	0	0	A	114308980	G	A	114308980	2	1	351	1	0	0	0	0	0	0	0	1	13748	1281	45	2		2	RSBN1	1	114308980	Silent	SNP	G	TCGA-P5-A5EU-01A-11D-A27K-08	45404355	114308980	134941641	3	31545											
MPZ	4359	broad.mit.edu	37	1	161275672	161275672	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A5EU-01A-11D-A27K-08	TCGA-P5-A5EU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090094cb-6e22-4409-938a-11d3107c33ef	f66ea56c-7053-4147-bb40-9cab955d5957	g.chr1:161275672C>T	ENST00000336559.4	-	7	806	c.740G>A	c.(739-741)aGa>aAa	p.R247K	MPZ_ENST00000526189.1_5'UTR|MPZ_ENST00000491222.2_Silent_p.K51K|MPZ_ENST00000533357.1_Silent_p.K247K|MPZ_ENST00000360451.6_Silent_p.K257K			P25189	MYP0_HUMAN	myelin protein zero	0					synaptic transmission	integral to plasma membrane	structural molecule activity			central_nervous_system(1)|large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	10	all_cancers(52;6.96e-17)|all_hematologic(112;0.093)	Breast(1374;0.181)	BRCA - Breast invasive adenocarcinoma(70;0.00376)			ACCGCTATTTCTTATCCTTGC	0.592													44	58					0	0	1	0	0	T	161275672	C	T	161275672	3	4	351	1	0	0	0	0	1	0	0	0	9797	912	32	2	9	2	MPZ	1	161275672	Missense_Mutation	SNP	C	TCGA-P5-A5EU-01A-11D-A27K-08	46966692	161275672	87974949	4	31546											
APOB	338	broad.mit.edu	37	2	21225141	21225141	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A5EU-01A-11D-A27K-08	TCGA-P5-A5EU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090094cb-6e22-4409-938a-11d3107c33ef	f66ea56c-7053-4147-bb40-9cab955d5957	g.chr2:21225141G>A	ENST00000233242.1	-	29	13280	c.13153C>T	c.(13153-13155)Cgt>Tgt	p.R4385C		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	4385					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TATTCTTCACGAAGGGCCATA	0.363													24	42					0	0	1	0	0	A	21225141	G	A	21225141	3	1	351	1	0	0	0	0	1	0	0	0	782	1058	37	1	542	1	APOB	2	21225141	Missense_Mutation	SNP	G	TCGA-P5-A5EU-01A-11D-A27K-08		21225141	221974232	5	31547											
ZAP70	7535	broad.mit.edu	37	2	98354121	98354121	+	Missense_Mutation	SNP	A	A	G			TCGA-P5-A5EU-01A-11D-A27K-08	TCGA-P5-A5EU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090094cb-6e22-4409-938a-11d3107c33ef	f66ea56c-7053-4147-bb40-9cab955d5957	g.chr2:98354121A>G	ENST00000264972.5	+	11	1690	c.1475A>G	c.(1474-1476)tAc>tGc	p.Y492C	ZAP70_ENST00000463643.1_3'UTR|ZAP70_ENST00000451498.2_Missense_Mutation_p.Y185C|ZAP70_ENST00000442208.1_Missense_Mutation_p.Y366C	NM_001079.3	NP_001070.2	P43403	ZAP70_HUMAN	zeta-chain (TCR) associated protein kinase 70kDa	492	Protein kinase.				immune response|intracellular protein kinase cascade|positive thymic T cell selection|T cell receptor signaling pathway	cytosol|T cell receptor complex	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	29						GACGACAGCTACTACACTGTA	0.637													30	46					0	0	1	0	0	G	98354121	A	G	98354121	3	3	351	1	0	0	0	0	1	0	0	0	17574	391	14	3	1509	3	ZAP70	2	98354121	Missense_Mutation	SNP	A	TCGA-P5-A5EU-01A-11D-A27K-08	77128980	98354121	144845252	6	31548											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-P5-A5EU-01A-11D-A27K-08	TCGA-P5-A5EU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090094cb-6e22-4409-938a-11d3107c33ef	f66ea56c-7053-4147-bb40-9cab955d5957	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	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								30	48					0	0	1	0	0	T	209113112	C	T	209113112	3	4	351	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-P5-A5EU-01A-11D-A27K-08	110758991	209113112	34086261	7	31549											
OTOS	150677	broad.mit.edu	37	2	241079506	241079506	+	Splice_Site	SNP	C	C	T			TCGA-P5-A5EU-01A-11D-A27K-08	TCGA-P5-A5EU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090094cb-6e22-4409-938a-11d3107c33ef	f66ea56c-7053-4147-bb40-9cab955d5957	g.chr2:241079506C>T	ENST00000391989.2	-	4	289		c.e4-1		OTOS_ENST00000319460.1_Splice_Site			Q8NHW6	OTOSP_HUMAN	otospiralin							extracellular region				endometrium(2)|large_intestine(1)|lung(3)	6		all_epithelial(40;2.79e-15)|Breast(86;3.04e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0396)|Lung NSC(271;0.128)|Hepatocellular(293;0.148)|all_hematologic(139;0.158)|Melanoma(123;0.16)		Epithelial(32;2.56e-30)|all cancers(36;7.18e-28)|OV - Ovarian serous cystadenocarcinoma(60;2.37e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;8.07e-06)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)|Colorectal(34;0.019)|COAD - Colon adenocarcinoma(134;0.141)		GGCTTGGCCCCTGCAAAGGAA	0.572													23	8					0	0	1	0	0	T	241079506	C	T	241079506	5	4	351	1	0	0	0	0	0	0	1	0	11356	695	24	2	219	2	OTOS	2	241079506	Splice_Site	SNP	C	TCGA-P5-A5EU-01A-11D-A27K-08	31966394	241079506	2119867	8	31550											
RTP2	344892	broad.mit.edu	37	3	187416395	187416395	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A5EU-01A-11D-A27K-08	TCGA-P5-A5EU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090094cb-6e22-4409-938a-11d3107c33ef	f66ea56c-7053-4147-bb40-9cab955d5957	g.chr3:187416395G>A	ENST00000358241.1	-	2	997	c.569C>T	c.(568-570)gCg>gTg	p.A190V		NM_001004312.2	NP_001004312.2	Q5QGT7	RTP2_HUMAN	receptor (chemosensory) transporter protein 2	190					protein insertion into membrane	cell surface|integral to membrane|plasma membrane	olfactory receptor binding			large_intestine(3)|lung(14)|skin(1)	18	all_cancers(143;4.06e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0515)		GCCGGATCCCGCCTGGGCCCT	0.612													47	75					0	0	1	0	0	A	187416395	G	A	187416395	3	1	351	1	0	0	0	0	1	0	0	0	13786	1087	38	1	112	1	RTP2	3	187416395	Missense_Mutation	SNP	G	TCGA-P5-A5EU-01A-11D-A27K-08		187416395	10606035	9	31551											
GPR78	27201	broad.mit.edu	37	4	8583134	8583134	+	Missense_Mutation	SNP	T	T	G			TCGA-P5-A5EU-01A-11D-A27K-08	TCGA-P5-A5EU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090094cb-6e22-4409-938a-11d3107c33ef	f66ea56c-7053-4147-bb40-9cab955d5957	g.chr4:8583134T>G	ENST00000382487.4	+	1	842	c.425T>G	c.(424-426)cTt>cGt	p.L142R	GPR78_ENST00000509216.1_Intron	NM_080819.4	NP_543009.2	Q96P69	GPR78_HUMAN	G protein-coupled receptor 78	142					activation of adenylate cyclase activity by G-protein signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.L142H(1)		central_nervous_system(4)|kidney(4)|large_intestine(1)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26						GGCGCTGCACTTGGCTGCTCG	0.711													13	20					0	0	1	0	0	G	8583134	T	G	8583134	3	3	351	1	0	0	0	0	1	0	0	0	6750	1609	56	5	427	5	GPR78	4	8583134	Missense_Mutation	SNP	T	TCGA-P5-A5EU-01A-11D-A27K-08		8583134	182571142	10	31552											
CDH6	1004	broad.mit.edu	37	5	31318075	31318075	+	Silent	SNP	C	C	T			TCGA-P5-A5EU-01A-11D-A27K-08	TCGA-P5-A5EU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090094cb-6e22-4409-938a-11d3107c33ef	f66ea56c-7053-4147-bb40-9cab955d5957	g.chr5:31318075C>T	ENST00000514738.1	+	11	2191	c.1761C>T	c.(1759-1761)ggC>ggT	p.G587G	CDH6_ENST00000265071.2_Intron			P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	0	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						TGGTGAGGGGCTCACACTGTT	0.522													35	47					0	0	1	0	0	T	31318075	C	T	31318075	2	4	351	1	0	0	0	0	0	0	0	1	3136	812	28	2		2	CDH6	5	31318075	Silent	SNP	C	TCGA-P5-A5EU-01A-11D-A27K-08		31318075	149597185	11	31553											
PIK3R1	5295	broad.mit.edu	37	5	67591097	67591097	+	Missense_Mutation	SNP	A	A	G			TCGA-P5-A5EU-01A-11D-A27K-08	TCGA-P5-A5EU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090094cb-6e22-4409-938a-11d3107c33ef	f66ea56c-7053-4147-bb40-9cab955d5957	g.chr5:67591097A>G	ENST00000521381.1	+	13	2306	c.1690A>G	c.(1690-1692)Aac>Gac	p.N564D	PIK3R1_ENST00000274335.5_Missense_Mutation_p.N564D|PIK3R1_ENST00000336483.5_Missense_Mutation_p.N294D|PIK3R1_ENST00000521657.1_Missense_Mutation_p.N564D|PIK3R1_ENST00000523872.1_Missense_Mutation_p.N201D|PIK3R1_ENST00000320694.8_Missense_Mutation_p.N264D|PIK3R1_ENST00000396611.1_Missense_Mutation_p.N564D	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	564					epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.N564D(4)|p.D560_S565del(1)|p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	CAAACGTATGAACAGCATTAA	0.373			"Mis, F, O"		"gliobastoma, ovarian, colorectal"					TCGA GBM(4;<1E-08)			52	51					0	0	1	0	0	G	67591097	A	G	67591097	3	3	351	1	0	0	0	0	1	0	0	0	11966	246	9	3	1866	3	PIK3R1	5	67591097	Missense_Mutation	SNP	A	TCGA-P5-A5EU-01A-11D-A27K-08	36273022	67591097	113324163	12	31554											
ANKRD34B	340120	broad.mit.edu	37	5	79854526	79854526	+	Missense_Mutation	SNP	T	T	C			TCGA-P5-A5EU-01A-11D-A27K-08	TCGA-P5-A5EU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090094cb-6e22-4409-938a-11d3107c33ef	f66ea56c-7053-4147-bb40-9cab955d5957	g.chr5:79854526T>C	ENST00000338682.3	-	5	1985	c.1313A>G	c.(1312-1314)gAt>gGt	p.D438G		NM_001004441.2	NP_001004441.2	A5PLL1	AN34B_HUMAN	ankyrin repeat domain 34B	438						cytoplasm|nucleus				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	28		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;2.17e-46)|Epithelial(54;5.64e-41)|all cancers(79;3.24e-36)		AACACTGTGATCTAAAGGGAA	0.453													75	109					0	0	1	0	0	C	79854526	T	C	79854526	3	2	351	1	0	0	0	0	1	0	0	0	658	1435	50	3	235	3	ANKRD34B	5	79854526	Missense_Mutation	SNP	T	TCGA-P5-A5EU-01A-11D-A27K-08	12263429	79854526	101060734	13	31555											
STX11	8676	broad.mit.edu	37	6	144508400	144508400	+	Silent	SNP	C	C	T			TCGA-P5-A5EU-01A-11D-A27K-08	TCGA-P5-A5EU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090094cb-6e22-4409-938a-11d3107c33ef	f66ea56c-7053-4147-bb40-9cab955d5957	g.chr6:144508400C>T	ENST00000367568.4	+	2	819	c.636C>T	c.(634-636)cgC>cgT	p.R212R		NM_003764.3	NP_003755.2	O75558	STX11_HUMAN	syntaxin 11	212	t-SNARE coiled-coil homology.			ARAALNEIESRHRELLRLESR -> RGPPTTRSRAATANCC AWRAA (in Ref. 2; AAC24031).	cellular membrane fusion|intracellular protein transport|vesicle-mediated transport	Golgi apparatus|membrane	SNAP receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	12				OV - Ovarian serous cystadenocarcinoma(155;2.17e-06)|GBM - Glioblastoma multiforme(68;0.0492)		GCCGCCACCGCGAACTGCTGC	0.637									Familial Hemophagocytic Lymphohistiocytosis				40	14					0	0	1	0	0	T	144508400	C	T	144508400	2	4	351	1	0	0	0	0	0	0	0	1	15393	755	27	1		1	STX11	6	144508400	Silent	SNP	C	TCGA-P5-A5EU-01A-11D-A27K-08		144508400	26606667	14	31556											
AEBP1	165	broad.mit.edu	37	7	44151920	44151920	+	Splice_Site	SNP	G	G	A			TCGA-P5-A5EU-01A-11D-A27K-08	TCGA-P5-A5EU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090094cb-6e22-4409-938a-11d3107c33ef	f66ea56c-7053-4147-bb40-9cab955d5957	g.chr7:44151920G>A	ENST00000223357.3	+	17	2522	c.2217G>A	c.(2215-2217)acG>acA	p.T739T	AEBP1_ENST00000450684.2_Splice_Site_p.T314T	NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN	AE binding protein 1	739	Interaction with PTEN (By similarity).				cell adhesion|muscle organ development|proteolysis|skeletal system development	cytoplasm|extracellular space|nucleus	DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						CAGATGCCACGGTGAGGCTAC	0.622													4	75					0	0	1	0	0	A	44151920	G	A	44151920	5	1	351	1	0	0	0	0	0	0	1	0	348	1130	39	1	2283	1	AEBP1	7	44151920	Splice_Site	SNP	G	TCGA-P5-A5EU-01A-11D-A27K-08		44151920	114986743	15	31557											
MUC17	140453	broad.mit.edu	37	7	100679199	100679199	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A5EU-01A-11D-A27K-08	TCGA-P5-A5EU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090094cb-6e22-4409-938a-11d3107c33ef	f66ea56c-7053-4147-bb40-9cab955d5957	g.chr7:100679199G>A	ENST00000306151.4	+	3	4566	c.4502G>A	c.(4501-4503)gGt>gAt	p.G1501D		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1501	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CCTGCTGAAGGTACCAGCATA	0.478													6	337					0	0	1	0	0	A	100679199	G	A	100679199	3	1	351	1	0	0	0	0	1	0	0	0	10022	1261	44	2	4512	2	MUC17	7	100679199	Missense_Mutation	SNP	G	TCGA-P5-A5EU-01A-11D-A27K-08	56527279	100679199	58459464	16	31558											
PCM1	5108	broad.mit.edu	37	8	17829972	17829972	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A5EU-01A-11D-A27K-08	TCGA-P5-A5EU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090094cb-6e22-4409-938a-11d3107c33ef	f66ea56c-7053-4147-bb40-9cab955d5957	g.chr8:17829972G>A	ENST00000325083.8	+	23	4158	c.3719G>A	c.(3718-3720)cGc>cAc	p.R1240H	PCM1_ENST00000524226.1_Missense_Mutation_p.R1241H|PCM1_ENST00000519253.1_Missense_Mutation_p.R1240H	NM_006197.3	NP_006188	Q15154	PCM1_HUMAN	pericentriolar material 1	1240					centrosome organization|cilium assembly|G2/M transition of mitotic cell cycle|interkinetic nuclear migration|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome	centriolar satellite|cytosol|nuclear membrane|pericentriolar material	identical protein binding		PCM1/JAK2(30)	breast(4)|endometrium(8)|kidney(5)|large_intestine(16)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	48				Colorectal(111;0.0789)		AGTAGTAACCGCAAAAATCAA	0.383			T	"RET, JAK2"	"papillary thyroid, CML, MPD"								3	52					0	0	1	0	0	A	17829972	G	A	17829972	3	1	351	1	0	0	0	0	1	0	0	0	11631	1087	38	1	3801	1	PCM1	8	17829972	Missense_Mutation	SNP	G	TCGA-P5-A5EU-01A-11D-A27K-08		17829972	128534050	17	31559											
TOP1MT	116447	broad.mit.edu	37	8	144392244	144392244	+	Missense_Mutation	SNP	A	A	G			TCGA-P5-A5EU-01A-11D-A27K-08	TCGA-P5-A5EU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090094cb-6e22-4409-938a-11d3107c33ef	f66ea56c-7053-4147-bb40-9cab955d5957	g.chr8:144392244A>G	ENST00000523676.1	-	14	1808	c.1403T>C	c.(1402-1404)aTt>aCt	p.I468T	TOP1MT_ENST00000521193.1_Missense_Mutation_p.I468T|TOP1MT_ENST00000329245.4_Missense_Mutation_p.I566T|TOP1MT_ENST00000519148.1_Missense_Mutation_p.I468T			Q969P6	TOP1M_HUMAN	topoisomerase (DNA) I, mitochondrial	566					DNA topological change	chromosome|mitochondrial nucleoid	ATP binding|chromatin DNA binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity			endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	23	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)		Irinotecan(DB00762)|Topotecan(DB01030)	GCACCAGGCAATGCTGATCCT	0.627													47	79					0	0	1	0	0	G	144392244	A	G	144392244	3	3	351	1	0	0	0	0	1	0	0	0	16425	101	4	3	116	3	TOP1MT	8	144392244	Missense_Mutation	SNP	A	TCGA-P5-A5EU-01A-11D-A27K-08	126562272	144392244	1971778	18	31560											
EPPK1	83481	broad.mit.edu	37	8	144942913	144942913	+	Silent	SNP	G	G	A			TCGA-P5-A5EU-01A-11D-A27K-08	TCGA-P5-A5EU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090094cb-6e22-4409-938a-11d3107c33ef	f66ea56c-7053-4147-bb40-9cab955d5957	g.chr8:144942913G>A	ENST00000525985.1	-	2	4580	c.4509C>T	c.(4507-4509)agC>agT	p.S1503S				P58107	EPIPL_HUMAN	epiplakin 1	1503						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)			TGGTGACTGCGCTGACCACCT	0.687													4	8					0	0	1	0	0	A	144942913	G	A	144942913	2	1	351	1	0	0	0	0	0	0	0	1	5218	1078	38	1		1	EPPK1	8	144942913	Silent	SNP	G	TCGA-P5-A5EU-01A-11D-A27K-08	550669	144942913	1421109	19	31561											
OR4C13	283092	broad.mit.edu	37	11	49974106	49974106	+	Silent	SNP	G	G	T			TCGA-P5-A5EU-01A-11D-A27K-08	TCGA-P5-A5EU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090094cb-6e22-4409-938a-11d3107c33ef	f66ea56c-7053-4147-bb40-9cab955d5957	g.chr11:49974106G>T	ENST00000555099.1	+	1	164	c.132G>T	c.(130-132)gtG>gtT	p.V44V		NM_001001955.2	NP_001001955.2	Q8NGP0	OR4CD_HUMAN	olfactory receptor, family 4, subfamily C, member 13	44					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	43						TGCTCATTGTGGTCACCATCA	0.428													120	155					8.41509e-73	9.31031e-73	1	1	0	T	49974106	G	T	49974106	2	4	351	1	0	0	0	0	0	0	0	1	11095	1335	47	5		5	OR4C13	11	49974106	Silent	SNP	G	TCGA-P5-A5EU-01A-11D-A27K-08		49974106	85032410	20	31562											
DAGLA	747	broad.mit.edu	37	11	61504678	61504678	+	Missense_Mutation	SNP	C	C	G			TCGA-P5-A5EU-01A-11D-A27K-08	TCGA-P5-A5EU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090094cb-6e22-4409-938a-11d3107c33ef	f66ea56c-7053-4147-bb40-9cab955d5957	g.chr11:61504678C>G	ENST00000257215.5	+	14	1512	c.1396C>G	c.(1396-1398)Ctg>Gtg	p.L466V		NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN	diacylglycerol lipase, alpha	466					cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		ACACTACGGCCTGATTGTGGT	0.637													135	177					0	0	1	0	0	G	61504678	C	G	61504678	3	3	351	1	0	0	0	0	1	0	0	0	4250	680	24	4	1446	4	DAGLA	11	61504678	Missense_Mutation	SNP	C	TCGA-P5-A5EU-01A-11D-A27K-08	11530572	61504678	73501838	21	31563											
GXYLT1	283464	broad.mit.edu	37	12	42512817	42512817	+	Silent	SNP	A	A	G	rs115323055	by1000genomes	TCGA-P5-A5EU-01A-11D-A27K-08	TCGA-P5-A5EU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090094cb-6e22-4409-938a-11d3107c33ef	f66ea56c-7053-4147-bb40-9cab955d5957	g.chr12:42512817A>G	ENST00000398675.3	-	3	703	c.471T>C	c.(469-471)caT>caC	p.H157H	GXYLT1_ENST00000280876.6_Silent_p.H126H	NM_001099650.1|NM_173601.1	NP_001093120.1|NP_775872.1	Q4G148	GXLT1_HUMAN	glucoside xylosyltransferase 1	157					O-glycan processing	integral to membrane	UDP-xylosyltransferase activity			kidney(2)|large_intestine(4)|liver(3)|lung(8)	17						CTTTAAAGCTATGATGTAGCT	0.323													4	25					0	0	1	0	0	G	42512817	A	G	42512817	2	3	351	1	0	0	0	0	0	0	0	1	6944	446	16	3		3	GXYLT1	12	42512817	Silent	SNP	A	TCGA-P5-A5EU-01A-11D-A27K-08		42512817	91339078	22	31564											
AMIGO2	347902	broad.mit.edu	37	12	47471391	47471391	+	Missense_Mutation	SNP	T	T	A			TCGA-P5-A5EU-01A-11D-A27K-08	TCGA-P5-A5EU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090094cb-6e22-4409-938a-11d3107c33ef	f66ea56c-7053-4147-bb40-9cab955d5957	g.chr12:47471391T>A	ENST00000266581.4	-	2	1861	c.1395A>T	c.(1393-1395)agA>agT	p.R465S	AMIGO2_ENST00000429635.1_Missense_Mutation_p.R465S|AMIGO2_ENST00000321382.3_Missense_Mutation_p.R465S|AMIGO2_ENST00000550413.1_Missense_Mutation_p.R465S	NM_181847.4	NP_862830.1	Q86SJ2	AMGO2_HUMAN	adhesion molecule with Ig-like domain 2	465					heterophilic cell-cell adhesion|homophilic cell adhesion	integral to membrane|nucleus|plasma membrane				endometrium(2)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	Renal(347;0.138)|Lung SC(27;0.192)					AAAACACCACTCTTTTACCTG	0.522													28	7					0	0	1	0	0	A	47471391	T	A	47471391	3	1	351	1	0	0	0	0	1	0	0	0	572	1548	54	5	177	5	AMIGO2	12	47471391	Missense_Mutation	SNP	T	TCGA-P5-A5EU-01A-11D-A27K-08	4958574	47471391	86380504	23	31565											
PLCB2	5330	broad.mit.edu	37	15	40584082	40584082	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A5EU-01A-11D-A27K-08	TCGA-P5-A5EU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090094cb-6e22-4409-938a-11d3107c33ef	f66ea56c-7053-4147-bb40-9cab955d5957	g.chr15:40584082C>T	ENST00000260402.3	-	24	2819	c.2570G>A	c.(2569-2571)gGg>gAg	p.G857E	PLCB2_ENST00000456256.2_Missense_Mutation_p.G857E|PLCB2_ENST00000557821.1_Missense_Mutation_p.G853E	NM_001284297.1|NM_004573.2	NP_001271226.1|NP_004564.2	Q00722	PLCB2_HUMAN	phospholipase C, beta 2	857					activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)		GGCCAACGCCCCATTGACCTG	0.622													22	12					0	0	1	0	0	T	40584082	C	T	40584082	3	4	351	1	0	0	0	0	1	0	0	0	12076	623	22	2	1023	2	PLCB2	15	40584082	Missense_Mutation	SNP	C	TCGA-P5-A5EU-01A-11D-A27K-08		40584082	61947310	24	31566											
TP53	7157	broad.mit.edu	37	17	7578280	7578280	+	Missense_Mutation	SNP	G	G	C			TCGA-P5-A5EU-01A-11D-A27K-08	TCGA-P5-A5EU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090094cb-6e22-4409-938a-11d3107c33ef	f66ea56c-7053-4147-bb40-9cab955d5957	g.chr17:7578280G>C	ENST00000420246.2	-	6	701	c.569C>G	c.(568-570)cCt>cGt	p.P190R	TP53_ENST00000359597.4_Missense_Mutation_p.P190R|TP53_ENST00000445888.2_Missense_Mutation_p.P190R|TP53_ENST00000455263.2_Missense_Mutation_p.P190R|TP53_ENST00000413465.2_Missense_Mutation_p.P190R|TP53_ENST00000574684.1_Intron|TP53_ENST00000269305.4_Missense_Mutation_p.P190R	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	190	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		P -> A (in sporadic cancers; somatic mutation).|P -> H (in a sporadic cancer; somatic mutation).|P -> L (in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> S (in sporadic cancers; somatic mutation).|P -> T (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.P190L(21)|p.0?(8)|p.?(7)|p.P190fs*57(6)|p.P190del(6)|p.A189_V197delAPPQHLIRV(4)|p.P190R(2)|p.G187fs*16(2)|p.P190F(2)|p.D186_P191delDGLAPP(1)|p.P190H(1)|p.P58fs*>33(1)|p.P191fs*18(1)|p.A189_Q192>E(1)|p.L188_P191del(1)|p.A189_P190>X(1)|p.P97fs*57(1)|p.A189fs*53(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)		ATGCTGAGGAGGGGCCAGACC	0.552		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)			57	10					0	0	1	0	0	C	7578280	G	C	7578280	3	2	351	1	0	0	0	0	1	0	0	0	16442	1000	35	4	725	4	TP53	17	7578280	Missense_Mutation	SNP	G	TCGA-P5-A5EU-01A-11D-A27K-08		7578280	73616930	25	31567											
SLFN12	55106	broad.mit.edu	37	17	33738559	33738559	+	Nonsense_Mutation	SNP	A	A	C			TCGA-P5-A5EU-01A-11D-A27K-08	TCGA-P5-A5EU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090094cb-6e22-4409-938a-11d3107c33ef	f66ea56c-7053-4147-bb40-9cab955d5957	g.chr17:33738559A>C	ENST00000394562.1	-	6	2058	c.1535T>G	c.(1534-1536)tTa>tGa	p.L512*	SLFN12_ENST00000452764.3_Nonsense_Mutation_p.L512*|SLFN12_ENST00000304905.5_Nonsense_Mutation_p.L512*|SLFN12_ENST00000460530.1_5'UTR			Q8IYM2	SLN12_HUMAN	schlafen family member 12	512							ATP binding			breast(1)|kidney(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		TTGCGACCTTAAATCATACTG	0.393													4	92					0	0	1	0	0	C	33738559	A	C	33738559	4	2	351	1	0	0	0	0	0	1	0	0	14789	372	13	5	205	5	SLFN12	17	33738559	Nonsense_Mutation	SNP	A	TCGA-P5-A5EU-01A-11D-A27K-08	26160279	33738559	47456651	26	31568											
KRT15	3866	broad.mit.edu	37	17	39673389	39673389	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A5EU-01A-11D-A27K-08	TCGA-P5-A5EU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090094cb-6e22-4409-938a-11d3107c33ef	f66ea56c-7053-4147-bb40-9cab955d5957	g.chr17:39673389C>T	ENST00000254043.3	-	2	4112	c.527G>A	c.(526-528)cGg>cAg	p.R176Q	KRT15_ENST00000393976.2_Missense_Mutation_p.R176Q|KRT15_ENST00000393981.3_Intron|KRT15_ENST00000393974.3_Intron	NM_002275.3	NP_002266	P19012	K1C15_HUMAN	keratin 15	176	Coil 1B.|Rod.				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16		Breast(137;0.000286)				CAGGATGACCCGGGAGTTGTC	0.597													60	113					0	0	1	0	0	T	39673389	C	T	39673389	3	4	351	1	0	0	0	0	1	0	0	0	8495	652	23	1	871	1	KRT15	17	39673389	Missense_Mutation	SNP	C	TCGA-P5-A5EU-01A-11D-A27K-08	5934830	39673389	41521821	27	31569											
NT5C	30833	broad.mit.edu	37	17	73127345	73127345	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A5EU-01A-11D-A27K-08	TCGA-P5-A5EU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090094cb-6e22-4409-938a-11d3107c33ef	f66ea56c-7053-4147-bb40-9cab955d5957	g.chr17:73127345C>T	ENST00000245552.2	-	2	293	c.206G>A	c.(205-207)gGc>gAc	p.G69D	NT5C_ENST00000582160.1_5'UTR|NT5C_ENST00000579082.1_5'UTR|NT5C_ENST00000578337.1_5'UTR|NT5C_ENST00000582170.1_Missense_Mutation_p.G69D	NM_014595.2	NP_055410.1	Q8TCD5	NT5C_HUMAN	5', 3'-nucleotidase, cytosolic	69					purine base metabolic process|purine nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine deoxyribonucleotide catabolic process|pyrimidine nucleoside catabolic process	cytosol|nucleus	5'-nucleotidase activity|metal ion binding|pyrimidine nucleotide binding					all_lung(278;0.14)|Lung NSC(278;0.168)		LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)			CAGGAAAAAGCCCGGGGCTTC	0.652													49	63					0	0	1	0	0	T	73127345	C	T	73127345	3	4	351	1	0	0	0	0	1	0	0	0	10732	739	26	2	415	2	NT5C	17	73127345	Missense_Mutation	SNP	C	TCGA-P5-A5EU-01A-11D-A27K-08	33453956	73127345	8067865	28	31570											
DSG4	147409	broad.mit.edu	37	18	28993042	28993042	+	Silent	SNP	T	T	A			TCGA-P5-A5EU-01A-11D-A27K-08	TCGA-P5-A5EU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090094cb-6e22-4409-938a-11d3107c33ef	f66ea56c-7053-4147-bb40-9cab955d5957	g.chr18:28993042T>A	ENST00000359747.4	+	15	2693	c.2664T>A	c.(2662-2664)ccT>ccA	p.P888P	DSG4_ENST00000308128.4_Silent_p.P869P|RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000578477.1_RNA	NM_001134453.1	NP_001127925.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	869					homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			CTGACCTCCCTTTGCTCGGAC	0.418													71	100					0	0	1	0	0	A	28993042	T	A	28993042	2	1	351	1	0	0	0	0	0	0	0	1	4805	1596	56	5		5	DSG4	18	28993042	Silent	SNP	T	TCGA-P5-A5EU-01A-11D-A27K-08		28993042	49084206	29	31571											
TSHZ2	128553	broad.mit.edu	37	20	51872176	51872176	+	Missense_Mutation	SNP	T	T	C	rs35790657		TCGA-P5-A5EU-01A-11D-A27K-08	TCGA-P5-A5EU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090094cb-6e22-4409-938a-11d3107c33ef	f66ea56c-7053-4147-bb40-9cab955d5957	g.chr20:51872176T>C	ENST00000371497.5	+	2	3066	c.2179T>C	c.(2179-2181)Tcc>Ccc	p.S727P	TSHZ2_ENST00000603338.2_Missense_Mutation_p.S724P|TSHZ2_ENST00000329613.6_Missense_Mutation_p.S724P	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	727					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			AAGCACAATTTCCATGTTCCA	0.562													35	36					0	0	1	0	0	C	51872176	T	C	51872176	3	2	351	1	0	0	0	0	1	0	0	0	16685	1783	62	3	2185	3	TSHZ2	20	51872176	Missense_Mutation	SNP	T	TCGA-P5-A5EU-01A-11D-A27K-08		51872176	11153344	30	31572											
GGT5	2687	broad.mit.edu	37	22	24628809	24628809	+	Frame_Shift_Del	DEL	A	A	-			TCGA-P5-A5EU-01A-11D-A27K-08	TCGA-P5-A5EU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090094cb-6e22-4409-938a-11d3107c33ef	f66ea56c-7053-4147-bb40-9cab955d5957	g.chr22:24628809delA	ENST00000327365.4	-	4	994	c.578delT	c.(577-579)ttgfs	p.L193fs	GGT5_ENST00000418439.2_Frame_Shift_Del_p.L117fs|GGT5_ENST00000398292.3_Frame_Shift_Del_p.L193fs|GGT5_ENST00000263112.7_Frame_Shift_Del_p.L161fs	NM_001099781.1|NM_004121.2	NP_001093251.1|NP_004112.2	P36269	GGT5_HUMAN	gamma-glutamyltransferase 5	193					glutathione biosynthetic process|hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process	integral to membrane|plasma membrane	acyltransferase activity|gamma-glutamyltransferase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(3)|skin(3)	28						TGACGCCTGCAAGGAAGGCCG	0.662													2	4	---	---	---	---						-	24628809	A	-	24628809	7	5	351	1	0	1	0	1	0	0	0	0	6404	131	5	0	1221	0	GGT5	22	24628809	Frame_Shift_Del	DEL	A	TCGA-P5-A5EU-01A-11D-A27K-08		24628809	26675757	31	31573											
LGALS2	3957	broad.mit.edu	37	22	37966744	37966744	+	Splice_Site	SNP	T	T	C			TCGA-P5-A5EU-01A-11D-A27K-08	TCGA-P5-A5EU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090094cb-6e22-4409-938a-11d3107c33ef	f66ea56c-7053-4147-bb40-9cab955d5957	g.chr22:37966744T>C	ENST00000215886.4	-	3	264		c.e3-2			NM_006498.2	NP_006489.1	P05162	LEG2_HUMAN	lectin, galactoside-binding, soluble, 2											breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|stomach(1)	11	Melanoma(58;0.0574)					ATTACAAAGCTGCAGGAGAAG	0.527													45	59					0	0	1	0	0	C	37966744	T	C	37966744	5	2	351	1	0	0	0	0	0	0	1	0	8781	1594	55	3	318	3	LGALS2	22	37966744	Splice_Site	SNP	T	TCGA-P5-A5EU-01A-11D-A27K-08	13337935	37966744	13337822	32	31574											
ATRX	546	broad.mit.edu	37	X	76919034	76919035	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-P5-A5EU-01A-11D-A27K-08	TCGA-P5-A5EU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090094cb-6e22-4409-938a-11d3107c33ef	f66ea56c-7053-4147-bb40-9cab955d5957	g.chrX:76919034_76919035delTT	ENST00000373344.5	-	12	4170_4171	c.3956_3957delAA	c.(3955-3957)caafs	p.Q1319fs	ATRX_ENST00000395603.3_Frame_Shift_Del_p.Q1281fs|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1319					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)	CAGAATTGACTTGATTTTTTGC	0.361			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						9	2	---	---	---	---						-	76919035	TT	-	76919034	7	5	351	1	0	1	0	1	0	0	0	0	1206	1606	56	0	3617	0	ATRX	23	76919034	Frame_Shift_Del	DEL	TT	TCGA-P5-A5EU-01A-11D-A27K-08		76919034	78351526	33	31575											
NADK	65220	broad.mit.edu	37	1	1686109	1686109	+	Silent	SNP	C	C	T			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr1:1686109C>T	ENST00000344463.4	-	10	1373	c.1152G>A	c.(1150-1152)cgG>cgA	p.R384R	NADK_ENST00000341991.3_Silent_p.R239R|NADK_ENST00000341426.5_Silent_p.R239R|NADK_ENST00000378625.1_Silent_p.R384R|NADK_ENST00000342348.5_Silent_p.R207R			O95544	NADK_HUMAN	NAD kinase	239					ATP metabolic process|NAD metabolic process|water-soluble vitamin metabolic process	cytosol	ATP binding|metal ion binding|NAD+ kinase activity|protein binding			NS(1)|autonomic_ganglia(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|stomach(1)|urinary_tract(1)	17	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.61e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;8.75e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.33e-23)|GBM - Glioblastoma multiforme(42;1.35e-07)|Colorectal(212;0.000203)|COAD - Colon adenocarcinoma(227;0.000225)|Kidney(185;0.00265)|STAD - Stomach adenocarcinoma(132;0.00655)|BRCA - Breast invasive adenocarcinoma(365;0.00855)|KIRC - Kidney renal clear cell carcinoma(229;0.0382)|Lung(427;0.207)		TGACCTTCAGCCGACTCCGGA	0.647													5	229					0	0	1	0	0	T	1686109	C	T	1686109	2	4	352	1	0	0	0	0	0	0	0	1	10185	726	26	2		2	NADK	1	1686109	Silent	SNP	C	TCGA-P5-A5EV-01A-11D-A27K-08		1686109	247564512	1	31576											
MTF1	4520	broad.mit.edu	37	1	38281148	38281148	+	Missense_Mutation	SNP	G	G	C			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr1:38281148G>C	ENST00000373036.4	-	11	2062	c.1922C>G	c.(1921-1923)tCt>tGt	p.S641C		NM_005955.2	NP_005946.2	Q14872	MTF1_HUMAN	metal-regulatory transcription factor 1	641						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|zinc ion binding			endometrium(3)|kidney(5)|large_intestine(6)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)	31	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				CTCCTTTGCAGAGTCCCGGCA	0.612													5	66					0	0	1	0	0	C	38281148	G	C	38281148	3	2	352	1	0	0	0	0	1	0	0	0	9970	942	33	4	343	4	MTF1	1	38281148	Missense_Mutation	SNP	G	TCGA-P5-A5EV-01A-11D-A27K-08	36595039	38281148	210969473	2	31577											
MACF1	23499	broad.mit.edu	37	1	39835815	39835815	+	Missense_Mutation	SNP	C	C	G			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr1:39835815C>G	ENST00000564288.1	+	51	13829	c.13052C>G	c.(13051-13053)tCt>tGt	p.S4351C	MACF1_ENST00000539005.1_Missense_Mutation_p.S2289C|MACF1_ENST00000317713.7_Missense_Mutation_p.S2289C|MACF1_ENST00000545844.1_Missense_Mutation_p.S2289C|MACF1_ENST00000361689.2_Missense_Mutation_p.S2289C|MACF1_ENST00000289893.4_Missense_Mutation_p.S2791C|MACF1_ENST00000372915.3_Missense_Mutation_p.S4356C|MACF1_ENST00000567887.1_Missense_Mutation_p.S4388C|MACF1_ENST00000476350.1_3'UTR			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	4356					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			ACGGAAACTTCTATGAGTGCT	0.438													14	30					0	0	1	0	0	G	39835815	C	G	39835815	3	3	352	1	0	0	0	0	1	0	0	0	9190	913	32	4	13199	4	MACF1	1	39835815	Missense_Mutation	SNP	C	TCGA-P5-A5EV-01A-11D-A27K-08	1554667	39835815	209414806	3	31578											
MACF1	23499	broad.mit.edu	37	1	39852993	39852993	+	Missense_Mutation	SNP	G	G	C			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr1:39852993G>C	ENST00000564288.1	+	58	15256	c.14479G>C	c.(14479-14481)Gag>Cag	p.E4827Q	MACF1_ENST00000539005.1_Missense_Mutation_p.E2744Q|MACF1_ENST00000317713.7_Missense_Mutation_p.E2765Q|MACF1_ENST00000545844.1_Missense_Mutation_p.E2765Q|MACF1_ENST00000361689.2_Missense_Mutation_p.E2765Q|MACF1_ENST00000289893.4_Missense_Mutation_p.E3267Q|MACF1_ENST00000372915.3_Missense_Mutation_p.E4832Q|MACF1_ENST00000567887.1_Missense_Mutation_p.E4864Q			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	4832					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TGCAAAATTGGAGCGGCTACA	0.453													88	175					0	0	1	0	0	C	39852993	G	C	39852993	3	2	352	1	0	0	0	0	1	0	0	0	9190	1175	41	5	14654	5	MACF1	1	39852993	Missense_Mutation	SNP	G	TCGA-P5-A5EV-01A-11D-A27K-08	17178	39852993	209397628	4	31579											
LRRC7	57554	broad.mit.edu	37	1	70144065	70144065	+	Splice_Site	SNP	A	A	G			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr1:70144065A>G	ENST00000370958.1	+	2	194	c.4A>G	c.(4-6)Atg>Gtg	p.M2V	LRRC7_ENST00000310961.5_5'UTR			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	0						centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						CTCTTATAGGATGGAGAACCT	0.393													7	3					0	0	1	0	0	G	70144065	A	G	70144065	5	3	352	1	0	0	0	0	0	0	1	0	9065	348	12	3		3	LRRC7	1	70144065	Splice_Site	SNP	A	TCGA-P5-A5EV-01A-11D-A27K-08	30291072	70144065	179106556	5	31580											
CD58	965	broad.mit.edu	37	1	117113546	117113546	+	Missense_Mutation	SNP	C	C	G			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr1:117113546C>G	ENST00000457047.2	-	1	102	c.49G>C	c.(49-51)Gtc>Ctc	p.V17L	CD58_ENST00000369487.3_Missense_Mutation_p.V17L|CD58_ENST00000369489.5_Missense_Mutation_p.V17L	NM_001144822.1	NP_001138294.1	P19256	LFA3_HUMAN	CD58 molecule	17					blood coagulation|cell-cell adhesion|leukocyte migration	anchored to membrane|integral to plasma membrane	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(3)|urinary_tract(1)	9	Lung SC(450;0.225)	all_cancers(81;0.000363)|all_lung(203;0.000118)|all_epithelial(167;0.000149)|Lung NSC(69;0.000577)		Lung(183;0.0086)|LUSC - Lung squamous cell carcinoma(189;0.0528)|Colorectal(144;0.0775)|all cancers(265;0.109)|Epithelial(280;0.118)|COAD - Colon adenocarcinoma(174;0.121)		AGCAGGCAGACCACGCTGAGG	0.741													3	5					0	0	1	0	0	G	117113546	C	G	117113546	3	3	352	1	0	0	0	0	1	0	0	0	3047	507	18	5	731	5	CD58	1	117113546	Missense_Mutation	SNP	C	TCGA-P5-A5EV-01A-11D-A27K-08	46969481	117113546	132137075	6	31581											
ZNF697	90874	broad.mit.edu	37	1	120166640	120166640	+	Missense_Mutation	SNP	G	G	C			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr1:120166640G>C	ENST00000421812.2	-	3	445	c.326C>G	c.(325-327)tCt>tGt	p.S109C		NM_001080470.1	NP_001073939.1	Q5TEC3	ZN697_HUMAN	zinc finger protein 697	109					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2	all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0266)		Lung(183;0.011)|LUSC - Lung squamous cell carcinoma(189;0.0577)		TATGCTGTCAGACTCAGACAG	0.622													13	30					0	0	1	0	0	C	120166640	G	C	120166640	3	2	352	1	0	0	0	0	1	0	0	0	18156	942	33	4	1315	4	ZNF697	1	120166640	Missense_Mutation	SNP	G	TCGA-P5-A5EV-01A-11D-A27K-08	3053094	120166640	129083981	7	31582											
OAZ3	51686	broad.mit.edu	37	1	151742722	151742722	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr1:151742722G>A	ENST00000479764.1	+	3	3523	c.7G>A	c.(7-9)Gga>Aga	p.G3R	OAZ3_ENST00000321531.5_Missense_Mutation_p.R140Q|OAZ3_ENST00000315067.8_Missense_Mutation_p.R140Q|OAZ3_ENST00000453029.2_Missense_Mutation_p.R153Q|OAZ3_ENST00000400999.1_Missense_Mutation_p.G3R			Q9UMX2	OAZ3_HUMAN	ornithine decarboxylase antizyme 3	0					cellular nitrogen compound metabolic process|regulation of cellular amino acid metabolic process|spermatogenesis	cytosol|nucleus	ornithine decarboxylase inhibitor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(4)	9	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)		L-Ornithine(DB00129)	CAGAATGATCGGAACGACAGA	0.473													11	311					0	0	1	0	0	A	151742722	G	A	151742722	3	1	352	1	0	0	0	0	1	0	0	0	10854	1116	39	1	605	1	OAZ3	1	151742722	Missense_Mutation	SNP	G	TCGA-P5-A5EV-01A-11D-A27K-08	31576082	151742722	97507899	8	31583											
POU2F1	5451	broad.mit.edu	37	1	167384943	167384943	+	Missense_Mutation	SNP	C	C	G			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr1:167384943C>G	ENST00000367862.5	+	16	2399	c.2164C>G	c.(2164-2166)Cac>Gac	p.H722D	POU2F1_ENST00000367866.2_Missense_Mutation_p.H733D|POU2F1_ENST00000367865.1_3'UTR|POU2F1_ENST00000429375.2_Missense_Mutation_p.H670D|POU2F1_ENST00000541643.3_Missense_Mutation_p.H710D|POU2F1_ENST00000420254.3_Intron	NM_001198783.1	NP_001185712.1	P14859	PO2F1_HUMAN	POU class 2 homeobox 1	710					negative regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	30						AGCCAGCCTTCACGCCACCTC	0.617													13	363					0	0	1	0	0	G	167384943	C	G	167384943	3	3	352	1	0	0	0	0	1	0	0	0	12317	826	29	5	2186	5	POU2F1	1	167384943	Missense_Mutation	SNP	C	TCGA-P5-A5EV-01A-11D-A27K-08	15642221	167384943	81865678	9	31584											
FMN2	56776	broad.mit.edu	37	1	240370340	240370340	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr1:240370340C>T	ENST00000319653.9	+	5	2458	c.2228C>T	c.(2227-2229)tCg>tTg	p.S743L		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	743					actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			GAGGCGAAATCGATACAGACT	0.572													13	30					0	0	1	0	0	T	240370340	C	T	240370340	3	4	352	1	0	0	0	0	1	0	0	0	5983	893	31	1	2246	1	FMN2	1	240370340	Missense_Mutation	SNP	C	TCGA-P5-A5EV-01A-11D-A27K-08	72985397	240370340	8880281	10	31585											
PXDN	7837	broad.mit.edu	37	2	1652144	1652144	+	Missense_Mutation	SNP	G	G	C			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr2:1652144G>C	ENST00000252804.4	-	17	3458	c.3408C>G	c.(3406-3408)aaC>aaG	p.N1136K		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	1136					extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		TGAGCTCCGTGTTCAGCAGCT	0.652													21	71					0	0	1	0	0	C	1652144	G	C	1652144	3	2	352	1	0	0	0	0	1	0	0	0	12899	1368	48	5	1059	5	PXDN	2	1652144	Missense_Mutation	SNP	G	TCGA-P5-A5EV-01A-11D-A27K-08		1652144	241547229	11	31586											
MYCN	4613	broad.mit.edu	37	2	16086010	16086010	+	Missense_Mutation	SNP	G	G	C			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr2:16086010G>C	ENST00000281043.3	+	3	1483	c.1186G>C	c.(1186-1188)Gac>Cac	p.D396H		NM_005378.4	NP_005369.2	P04198	MYCN_HUMAN	v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog	396	Helix-loop-helix motif.				regulation of transcription from RNA polymerase II promoter	chromatin|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	31	all_cancers(1;1.35e-08)|all_neural(1;2.92e-24)|Lung SC(1;3.26e-07)|Medulloblastoma(1;6.9e-06)|all_lung(1;1.26e-05)|Glioma(3;0.135)|Acute lymphoblastic leukemia(172;0.155)|all_epithelial(1;0.169)|all_hematologic(175;0.197)		GBM - Glioblastoma multiforme(3;0.000332)			GCGCCGCAACGACCTTCGGTC	0.572			A		neuroblastoma								5	225					0	0	1	0	0	C	16086010	G	C	16086010	3	2	352	1	0	0	0	0	1	0	0	0	10069	1058	37	5	1192	5	MYCN	2	16086010	Missense_Mutation	SNP	G	TCGA-P5-A5EV-01A-11D-A27K-08	14433866	16086010	227113363	12	31587											
UCN	7349	broad.mit.edu	37	2	27530422	27530422	+	Missense_Mutation	SNP	C	C	G			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr2:27530422C>G	ENST00000296099.2	-	2	640	c.342G>C	c.(340-342)caG>caC	p.Q114H		NM_003353.2	NP_003344.1	P55089	UCN1_HUMAN	urocortin	114						extracellular region	neuropeptide hormone activity			lung(1)|skin(1)	2	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGATGCGGTTCTGCTCGGCGC	0.647													38	46					0	0	1	0	0	G	27530422	C	G	27530422	3	3	352	1	0	0	0	0	1	0	0	0	16987	912	32	4	36	4	UCN	2	27530422	Missense_Mutation	SNP	C	TCGA-P5-A5EV-01A-11D-A27K-08	11444412	27530422	215668951	13	31588											
PSME4	23198	broad.mit.edu	37	2	54128608	54128608	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr2:54128608G>A	ENST00000404125.1	-	28	3219	c.3164C>T	c.(3163-3165)gCg>gTg	p.A1055V	PSME4_ENST00000421748.2_Missense_Mutation_p.A199V	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4	1055					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			AGAAACAATCGCTGGCCACGT	0.443													8	114					0	0	1	0	0	A	54128608	G	A	54128608	3	1	352	1	0	0	0	0	1	0	0	0	12758	1087	38	1	2443	1	PSME4	2	54128608	Missense_Mutation	SNP	G	TCGA-P5-A5EV-01A-11D-A27K-08	26598186	54128608	189070765	14	31589											
ALMS1	7840	broad.mit.edu	37	2	73613031	73613032	+	In_Frame_Ins	INS	-	-	GGA	rs55889738		TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr2:73613031_73613032insGGA	ENST00000264448.6	+	1	146_147	c.35_36insGGA	c.(34-39)ctggag>ctGGAggag	p.28_29insE	ALMS1_ENST00000377715.1_In_Frame_Ins_p.28_29insE|ALMS1_ENST00000409009.1_In_Frame_Ins_p.28_29insE	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	28	Glu-rich.				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole		p.E27_E28delEE(1)|p.E28_A29insE(1)		breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						CCGGGCGAGCTggaggaggagg	0.698													3	3	---	---	---	---						GGA	73613032	-	GGA	73613031	7	5	352	1	0	1	1	0	0	0	0	0	531	1580	55	0	37	0	ALMS1	2	73613031	In_Frame_Ins	INS	-	TCGA-P5-A5EV-01A-11D-A27K-08	19484423	73613031	169586342	15	31590											
TTN	7273	broad.mit.edu	37	2	179615597	179615597	+	Missense_Mutation	SNP	C	C	G			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr2:179615597C>G	ENST00000360870.5	-	46	11752	c.11530G>C	c.(11530-11532)Gcc>Ccc	p.A3844P	TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000591111.1_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000578746.1_RNA	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	9679							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTAGTATTGGCCATAATTTCT	0.373													24	70					0	0	1	0	0	G	179615597	C	G	179615597	3	3	352	1	0	0	0	0	1	0	0	0	16797	739	26	5	98767	5	TTN	2	179615597	Missense_Mutation	SNP	C	TCGA-P5-A5EV-01A-11D-A27K-08	106002566	179615597	63583776	16	31591											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	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	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								23	33					0	0	1	0	0	T	209113112	C	T	209113112	3	4	352	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-P5-A5EV-01A-11D-A27K-08	29497515	209113112	34086261	17	31592											
USP40	55230	broad.mit.edu	37	2	234434186	234434186	+	Missense_Mutation	SNP	T	T	C			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr2:234434186T>C	ENST00000251722.6	-	14	1862	c.1745A>G	c.(1744-1746)gAc>gGc	p.D582G	USP40_ENST00000450966.1_Missense_Mutation_p.D594G|USP40_ENST00000427112.2_Missense_Mutation_p.D582G			Q9NVE5	UBP40_HUMAN	ubiquitin specific peptidase 40	582					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(1)|endometrium(6)|kidney(5)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539)		Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646)		AAGAACCATGTCTCCTTCCCA	0.373													26	64					0	0	1	0	0	C	234434186	T	C	234434186	3	2	352	1	0	0	0	0	1	0	0	0	17132	1667	58	3	2038	3	USP40	2	234434186	Missense_Mutation	SNP	T	TCGA-P5-A5EV-01A-11D-A27K-08	25321074	234434186	8765187	18	31593											
LRRC2	79442	broad.mit.edu	37	3	46574300	46574300	+	Missense_Mutation	SNP	C	C	A			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr3:46574300C>A	ENST00000395905.3	-	5	982	c.590G>T	c.(589-591)tGt>tTt	p.C197F	LRRC2_ENST00000296144.3_Missense_Mutation_p.C197F	NM_024512.4	NP_078788.2	Q9BYS8	LRRC2_HUMAN	leucine rich repeat containing 2	197										breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	17		Ovarian(412;0.0563)		OV - Ovarian serous cystadenocarcinoma(275;6.37e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00133)|KIRC - Kidney renal clear cell carcinoma(197;0.0214)|Kidney(197;0.0254)		ATTTCCAGAACAATCCAGTCT	0.368													5	94					3.59834e-05	3.64507e-05	1	1	0	A	46574300	C	A	46574300	3	1	352	1	0	0	0	0	1	0	0	0	9021	478	17	5	545	5	LRRC2	3	46574300	Missense_Mutation	SNP	C	TCGA-P5-A5EV-01A-11D-A27K-08		46574300	151448130	19	31594											
COL7A1	1294	broad.mit.edu	37	3	48628163	48628163	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr3:48628163C>T	ENST00000328333.8	-	13	1830	c.1723G>A	c.(1723-1725)Gtg>Atg	p.V575M	COL7A1_ENST00000454817.1_Missense_Mutation_p.V575M	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	575	Fibronectin type-III 4.|Nonhelical region (NC1).				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CGAGCAGACACCCGCACAGTG	0.612													28	99					0	0	1	0	0	T	48628163	C	T	48628163	3	4	352	1	0	0	0	0	1	0	0	0	3727	507	18	2	7535	2	COL7A1	3	48628163	Missense_Mutation	SNP	C	TCGA-P5-A5EV-01A-11D-A27K-08	2053863	48628163	149394267	20	31595											
POU1F1	5449	broad.mit.edu	37	3	87313619	87313619	+	Missense_Mutation	SNP	C	C	G	rs142837047		TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr3:87313619C>G	ENST00000350375.2	-	3	382	c.258G>C	c.(256-258)ttG>ttC	p.L86F	POU1F1_ENST00000344265.3_Missense_Mutation_p.L112F|POU1F1_ENST00000560656.1_Missense_Mutation_p.L86F	NM_000306.2	NP_000297.1	P28069	PIT1_HUMAN	POU class 1 homeobox 1	86					negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(2)	18	all_cancers(8;0.104)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00229)|Lung(72;0.00677)		ATCCATGACTCAAGGTGTGGT	0.413													29	54					0	0	1	0	0	G	87313619	C	G	87313619	3	3	352	1	0	0	0	0	1	0	0	0	12315	825	29	5	633	5	POU1F1	3	87313619	Missense_Mutation	SNP	C	TCGA-P5-A5EV-01A-11D-A27K-08	38685456	87313619	110708811	21	31596											
HGD	3081	broad.mit.edu	37	3	120347254	120347254	+	Missense_Mutation	SNP	G	G	T			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr3:120347254G>T	ENST00000283871.5	-	14	1770	c.1311C>A	c.(1309-1311)aaC>aaA	p.N437K		NM_000187.3	NP_000178.2	Q93099	HGD_HUMAN	homogentisate 1,2-dioxygenase	437					L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	homogentisate 1,2-dioxygenase activity|metal ion binding			cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)	25				GBM - Glioblastoma multiforme(114;0.158)		GGTTCCTGGAGTTGGGAGTGA	0.468													39	147					3.09479e-21	3.21858e-21	1	1	0	T	120347254	G	T	120347254	3	4	352	1	0	0	0	0	1	0	0	0	7125	1020	36	4	30	4	HGD	3	120347254	Missense_Mutation	SNP	G	TCGA-P5-A5EV-01A-11D-A27K-08	33033635	120347254	77675176	22	31597											
PRR23B	389151	broad.mit.edu	37	3	138739058	138739058	+	Missense_Mutation	SNP	G	G	C			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr3:138739058G>C	ENST00000329447.5	-	1	710	c.446C>G	c.(445-447)gCc>gGc	p.A149G	MRPS22_ENST00000495075.1_Intron	NM_001013650.2	NP_001013672.1	Q6ZRT6	PR23B_HUMAN	proline rich 23B	149										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TTCCTGGGCGGCGATCTCTGG	0.662													6	93					0	0	1	0	0	C	138739058	G	C	138739058	3	2	352	1	0	0	0	0	1	0	0	0	12646	1203	42	5	355	5	PRR23B	3	138739058	Missense_Mutation	SNP	G	TCGA-P5-A5EV-01A-11D-A27K-08	18391804	138739058	59283372	23	31598											
PCDH7	5099	broad.mit.edu	37	4	30723437	30723437	+	Silent	SNP	C	C	G			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr4:30723437C>G	ENST00000361762.2	+	1	1401	c.393C>G	c.(391-393)gtC>gtG	p.V131V	PCDH7_ENST00000543491.1_Silent_p.V131V	NM_002589.2	NP_002580.2	O60245	PCDH7_HUMAN	protocadherin 7	131	Cadherin 1.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						AGGGTCAGGTCATCGTGCTTG	0.602													9	13					0	0	1	0	0	G	30723437	C	G	30723437	2	3	352	1	0	0	0	0	0	0	0	1	11563	813	29	5		5	PCDH7	4	30723437	Silent	SNP	C	TCGA-P5-A5EV-01A-11D-A27K-08		30723437	160430839	24	31599											
TBC1D1	23216	broad.mit.edu	37	4	38091702	38091702	+	Silent	SNP	C	C	T			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr4:38091702C>T	ENST00000261439.4	+	13	2555	c.2200C>T	c.(2200-2202)Ctg>Ttg	p.L734L	TBC1D1_ENST00000508802.1_Silent_p.L828L	NM_001253914.1|NM_001253915.1|NM_015173.3	NP_001240843.1|NP_001240844.1|NP_055988.2	Q86TI0	TBCD1_HUMAN	TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1	734						nucleus	Rab GTPase activator activity			NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						ACAGATACTGCTGCTTAGAAT	0.468													6	130					0	0	1	0	0	T	38091702	C	T	38091702	2	4	352	1	0	0	0	0	0	0	0	1	15654	796	28	2		2	TBC1D1	4	38091702	Silent	SNP	C	TCGA-P5-A5EV-01A-11D-A27K-08	7368265	38091702	153062574	25	31600											
SLC12A7	10723	broad.mit.edu	37	5	1079603	1079603	+	Missense_Mutation	SNP	C	C	G			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr5:1079603C>G	ENST00000264930.5	-	10	1349	c.1306G>C	c.(1306-1308)Gcg>Ccg	p.A436P		NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 7	436					potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	TTTGAACCCGCCATGATACCT	0.557													3	63					0	0	1	0	0	G	1079603	C	G	1079603	3	3	352	1	0	0	0	0	1	0	0	0	14443	739	26	5	2005	5	SLC12A7	5	1079603	Missense_Mutation	SNP	C	TCGA-P5-A5EV-01A-11D-A27K-08		1079603	179835657	26	31601											
LMBRD2	92255	broad.mit.edu	37	5	36122537	36122537	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr5:36122537C>T	ENST00000296603.4	-	9	1427	c.965G>A	c.(964-966)cGa>cAa	p.R322Q		NM_001007527.1	NP_001007528.1	Q68DH5	LMBD2_HUMAN	LMBR1 domain containing 2	322						integral to membrane				breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(31;0.000146)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TACTTGAGTTCGACGGTGTCT	0.408													21	37					0	0	1	0	0	T	36122537	C	T	36122537	3	4	352	1	0	0	0	0	1	0	0	0	8884	884	31	1	1162	1	LMBRD2	5	36122537	Missense_Mutation	SNP	C	TCGA-P5-A5EV-01A-11D-A27K-08	35042934	36122537	144792723	27	31602											
PCDHA6	56142	broad.mit.edu	37	5	140209248	140209248	+	Missense_Mutation	SNP	C	C	G			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr5:140209248C>G	ENST00000529310.1	+	1	1686	c.1572C>G	c.(1570-1572)gaC>gaG	p.D524E	PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Missense_Mutation_p.D524E|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron	NM_018909.2|NM_031848.2|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1														NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCCGCTGGACCACGAGGAGC	0.687													87	213					0	0	1	0	0	G	140209248	C	G	140209248	3	3	352	1	0	0	0	0	1	0	0	0	11575	506	18	5	1574	5	PCDHA6	5	140209248	Missense_Mutation	SNP	C	TCGA-P5-A5EV-01A-11D-A27K-08	104086711	140209248	40706012	28	31603											
PCDHA10	56139	broad.mit.edu	37	5	140237506	140237506	+	Missense_Mutation	SNP	C	C	G			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr5:140237506C>G	ENST00000307360.5	+	1	1873	c.1873C>G	c.(1873-1875)Ctg>Gtg	p.L625V	PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron	NM_018901.2	NP_061724.1														NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCGCGTGGGGCTGTACACGGG	0.632													13	49					0	0	1	0	0	G	140237506	C	G	140237506	3	3	352	1	0	0	0	0	1	0	0	0	11567	796	28	4	1875	4	PCDHA10	5	140237506	Missense_Mutation	SNP	C	TCGA-P5-A5EV-01A-11D-A27K-08	28258	140237506	40677754	29	31604											
FAM71B	153745	broad.mit.edu	37	5	156593086	156593086	+	Silent	SNP	A	A	G			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr5:156593086A>G	ENST00000302938.4	-	1	189	c.94T>C	c.(94-96)Ttg>Ctg	p.L32L		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	32						nucleus				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CTGTTGTACAATTGTCGTTGC	0.403													4	123					0	0	1	0	0	G	156593086	A	G	156593086	2	3	352	1	0	0	0	0	0	0	0	1	5643	98	4	3		3	FAM71B	5	156593086	Silent	SNP	A	TCGA-P5-A5EV-01A-11D-A27K-08	16355580	156593086	24322174	30	31605											
BTNL8	79908	broad.mit.edu	37	5	180374587	180374587	+	Missense_Mutation	SNP	G	G	C			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr5:180374587G>C	ENST00000231229.4	+	4	983	c.749G>C	c.(748-750)gGc>gCc	p.G250A	BTNL8_ENST00000533815.2_Missense_Mutation_p.G66A|BTNL8_ENST00000340184.4_Missense_Mutation_p.G250A|BTNL8_ENST00000508408.1_Missense_Mutation_p.G250A|BTNL8_ENST00000505126.1_Missense_Mutation_p.G43A|BTNL8_ENST00000511704.1_Missense_Mutation_p.G134A|BTNL8_ENST00000400707.3_Missense_Mutation_p.G125A	NM_001159708.1|NM_024850.2	NP_001153180.1|NP_079126.1	Q6UX41	BTNL8_HUMAN	butyrophilin-like 8	250						integral to membrane				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	28	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTATTTTTTGGCATTGTTGGA	0.458													108	168					0	0	1	0	0	C	180374587	G	C	180374587	3	2	352	1	0	0	0	0	1	0	0	0	1570	1203	42	5	789	5	BTNL8	5	180374587	Missense_Mutation	SNP	G	TCGA-P5-A5EV-01A-11D-A27K-08	23781501	180374587	540673	31	31606											
NUP153	9972	broad.mit.edu	37	6	17629745	17629745	+	Silent	SNP	C	C	T			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr6:17629745C>T	ENST00000262077.2	-	18	2684	c.2685G>A	c.(2683-2685)tcG>tcA	p.S895S	NUP153_ENST00000537253.1_Silent_p.S926S	NM_005124.2	NP_005115.2	P49790	NU153_HUMAN	nucleoporin 153kDa	895					carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm	DNA binding|protein binding|transporter activity|zinc ion binding			NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)			CTGCTGAGTTCGAAGATGAGG	0.388													32	40					0	0	1	0	0	T	17629745	C	T	17629745	2	4	352	1	0	0	0	0	0	0	0	1	10803	871	31	1		1	NUP153	6	17629745	Silent	SNP	C	TCGA-P5-A5EV-01A-11D-A27K-08		17629745	153485322	32	31607											
HIST1H3B	8358	broad.mit.edu	37	6	26032175	26032175	+	Missense_Mutation	SNP	C	C	G			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr6:26032175C>G	ENST00000244661.2	-	1	113	c.114G>C	c.(112-114)aaG>aaC	p.K38N		NM_003537.3	NP_003528.1	P68431	H31_HUMAN	histone cluster 1, H3b	38					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			breast(3)|central_nervous_system(10)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	25						AACGGTGAGGCTTTTTCACGC	0.642													7	240					0	0	1	0	0	G	26032175	C	G	26032175	3	3	352	1	0	0	0	0	1	0	0	0	7197	796	28	4	300	4	HIST1H3B	6	26032175	Missense_Mutation	SNP	C	TCGA-P5-A5EV-01A-11D-A27K-08	8402430	26032175	145082892	33	31608											
RUNX2	860	broad.mit.edu	37	6	45390354	45390355	+	Frame_Shift_Ins	INS	-	-	C			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr6:45390354_45390355insC	ENST00000371438.1	+	2	441_442	c.83_84insC	c.(82-87)agccccfs	p.SP28fs	RUNX2_ENST00000371436.6_Frame_Shift_Ins_p.SP28fs|RUNX2_ENST00000371432.3_Frame_Shift_Ins_p.SP14fs|RUNX2_ENST00000576263.1_Frame_Shift_Ins_p.SP28fs|RUNX2_ENST00000352853.5_Frame_Shift_Ins_p.SP96fs|RUNX2_ENST00000541979.1_Frame_Shift_Ins_p.SP96fs|RUNX2_ENST00000359524.5_Frame_Shift_Ins_p.SP14fs|RUNX2_ENST00000465038.2_Frame_Shift_Ins_p.SP28fs	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	28					negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						CGGCGCTTCAGCCCCCCCTCCA	0.649													39	181	---	---	---	---						C	45390355	-	C	45390354	7	5	352	1	0	1	1	0	0	0	0	0	13800	971	34	0	105	0	RUNX2	6	45390354	Frame_Shift_Ins	INS	-	TCGA-P5-A5EV-01A-11D-A27K-08	19358179	45390354	125724713	34	31609											
GPR116	221395	broad.mit.edu	37	6	46830772	46830772	+	Missense_Mutation	SNP	C	C	G			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr6:46830772C>G	ENST00000283296.7	-	15	2340	c.2052G>C	c.(2050-2052)caG>caC	p.Q684H	GPR116_ENST00000456426.2_Missense_Mutation_p.Q542H|GPR116_ENST00000362015.4_Missense_Mutation_p.Q684H|GPR116_ENST00000265417.7_Missense_Mutation_p.Q684H|GPR116_ENST00000545669.1_Missense_Mutation_p.Q113H	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	684					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			GGCATAGCTTCTGGATGACTT	0.507													35	60					0	0	1	0	0	G	46830772	C	G	46830772	3	3	352	1	0	0	0	0	1	0	0	0	6673	912	32	4	2016	4	GPR116	6	46830772	Missense_Mutation	SNP	C	TCGA-P5-A5EV-01A-11D-A27K-08	1440418	46830772	124284295	35	31610											
CTGF	1490	broad.mit.edu	37	6	132271980	132271980	+	Frame_Shift_Del	DEL	T	T	-	rs6934749	by1000genomes	TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr6:132271980delT	ENST00000367976.3	-	2	419	c.219delA	c.(217-219)ccafs	p.P73fs		NM_001901.2	NP_001892	P29279	CTGF_HUMAN	connective tissue growth factor	73	IGFBP N-terminal.				cellular lipid metabolic process|DNA replication|epidermis development|regulation of cell growth|response to wounding	plasma membrane|proteinaceous extracellular matrix	heparin binding|insulin-like growth factor binding			breast(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	13	Breast(56;0.0602)			GBM - Glioblastoma multiforme(226;0.015)|OV - Ovarian serous cystadenocarcinoma(155;0.0169)		GCGGGTCGCATGGGTCGCGCT	0.716													2	4	---	---	---	---						-	132271980	T	-	132271980	7	5	352	1	0	1	0	1	0	0	0	0	4032	1451	51	0	846	0	CTGF	6	132271980	Frame_Shift_Del	DEL	T	TCGA-P5-A5EV-01A-11D-A27K-08	85441208	132271980	38843087	36	31611											
UTRN	7402	broad.mit.edu	37	6	145149966	145149966	+	Missense_Mutation	SNP	G	G	C			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr6:145149966G>C	ENST00000367545.3	+	68	9640	c.9640G>C	c.(9640-9642)Gat>Cat	p.D3214H	UTRN_ENST00000367526.4_Missense_Mutation_p.D769H	NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	3214					muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		TTTTCTCACTGATAGCAGCTC	0.423													5	28					0	0	1	0	0	C	145149966	G	C	145149966	3	2	352	1	0	0	0	0	1	0	0	0	17163	1290	45	5	9910	5	UTRN	6	145149966	Missense_Mutation	SNP	G	TCGA-P5-A5EV-01A-11D-A27K-08	12877986	145149966	25965101	37	31612			1	38		2	2	27	G		9.658181e-05
UTRN	7402	broad.mit.edu	37	6	145149992	145149992	+	Splice_Site	SNP	G	G	C			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr6:145149992G>C	ENST00000367545.3	+	68	9665		c.e68+1		UTRN_ENST00000367526.4_Splice_Site	NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin						muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		CAGGAAGTGTGTAAGTAAATC	0.423													3	25					0	0	1	0	0	C	145149992	G	C	145149992	5	2	352	1	0	0	0	0	0	0	1	0	17163	1391	48	5	9936	5	UTRN	6	145149992	Splice_Site	SNP	G	TCGA-P5-A5EV-01A-11D-A27K-08	26	145149992	25965075	38	31613			1	38		2	2	27	G		9.658181e-05
FOXK1	221937	broad.mit.edu	37	7	4796718	4796718	+	Missense_Mutation	SNP	G	G	C			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr7:4796718G>C	ENST00000328914.4	+	5	1144	c.1144G>C	c.(1144-1146)Gac>Cac	p.D382H	FOXK1_ENST00000446823.1_Missense_Mutation_p.D219H	NM_001037165.1	NP_001032242.1	P85037	FOXK1_HUMAN	forkhead box K1	382					cell differentiation|embryo development|muscle organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|magnesium ion binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;7.43e-15)		TTGGCGAATAGACCCTGCCTC	0.572													5	198					0	0	1	0	0	C	4796718	G	C	4796718	3	2	352	1	0	0	0	0	1	0	0	0	6048	942	33	4	1162	4	FOXK1	7	4796718	Missense_Mutation	SNP	G	TCGA-P5-A5EV-01A-11D-A27K-08		4796718	154341945	39	31614											
ADCY1	107	broad.mit.edu	37	7	45699747	45699747	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr7:45699747G>A	ENST00000297323.7	+	7	1436	c.1414G>A	c.(1414-1416)Gaa>Aaa	p.E472K	ADCY1_ENST00000432715.1_Missense_Mutation_p.E247K	NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	472					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)	TCATAACATCGAAACCTTTTT	0.483													17	48					0	0	1	0	0	A	45699747	G	A	45699747	3	1	352	1	0	0	0	0	1	0	0	0	291	1059	37	1	1440	1	ADCY1	7	45699747	Missense_Mutation	SNP	G	TCGA-P5-A5EV-01A-11D-A27K-08	40903029	45699747	113438916	40	31615											
ADAM22	53616	broad.mit.edu	37	7	87792427	87792427	+	Missense_Mutation	SNP	C	C	G			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr7:87792427C>G	ENST00000398204.4	+	23	2331	c.2008C>G	c.(2008-2010)Cct>Gct	p.P670A	ADAM22_ENST00000315984.7_Missense_Mutation_p.P670A|ADAM22_ENST00000398209.3_Missense_Mutation_p.P670A|ADAM22_ENST00000398201.4_Missense_Mutation_p.P670A|ADAM22_ENST00000265727.7_Missense_Mutation_p.P670A	NM_016351.4|NM_021723.3	NP_057435.2|NP_068369.1	Q9P0K1	ADA22_HUMAN	ADAM metallopeptidase domain 22	670	Cys-rich.				cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis	integral to membrane	integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding			endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3)	53	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)			CAGGTGTCTTCCTGTGGCTTC	0.428													35	96					0	0	1	0	0	G	87792427	C	G	87792427	3	3	352	1	0	0	0	0	1	0	0	0	243	855	30	5	2098	5	ADAM22	7	87792427	Missense_Mutation	SNP	C	TCGA-P5-A5EV-01A-11D-A27K-08	42092680	87792427	71346236	41	31616											
COL1A2	1278	broad.mit.edu	37	7	94038891	94038891	+	Missense_Mutation	SNP	A	A	T			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr7:94038891A>T	ENST00000297268.6	+	18	1378	c.907A>T	c.(907-909)Aac>Tac	p.N303Y		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	303					axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	TCCTGGAGCAAACGGCCTTAC	0.433										HNSCC(75;0.22)			4	118					0	0	1	0	0	T	94038891	A	T	94038891	3	4	352	1	0	0	0	0	1	0	0	0	3701	14	1	5	977	5	COL1A2	7	94038891	Missense_Mutation	SNP	A	TCGA-P5-A5EV-01A-11D-A27K-08	6246464	94038891	65099772	42	31617											
CYP3A4	1576	broad.mit.edu	37	7	99359851	99359851	+	Missense_Mutation	SNP	G	G	C			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr7:99359851G>C	ENST00000354593.2	-	6	719	c.616C>G	c.(616-618)Ctt>Gtt	p.L206V	CYP3A4_ENST00000336411.2_Missense_Mutation_p.L356V			P08684	CP3A4_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 4	356					alkaloid catabolic process|androgen metabolic process|exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid catabolic process|xenobiotic metabolic process	cell surface|endoplasmic reticulum membrane|integral to membrane|microsome	albendazole monooxygenase activity|caffeine oxidase activity|electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding|quinine 3-monooxygenase activity|steroid binding|taurochenodeoxycholate 6alpha-hydroxylase activity|testosterone 6-beta-hydroxylase activity|vitamin D 24-hydroxylase activity|vitamin D3 25-hydroxylase activity			breast(3)|central_nervous_system(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|skin(2)	18	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)				Albendazole(DB00518)|Alclometasone(DB00240)|Alfentanil(DB00802)|Alfuzosin(DB00346)|Aliskiren(DB01258)|Almotriptan(DB00918)|Alosetron(DB00969)|Alprazolam(DB00404)|Amlodipine(DB00381)|Amprenavir(DB00701)|Aprepitant(DB00673)|Aripiprazole(DB01238)|Astemizole(DB00637)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Benazepril(DB00542)|Bepridil(DB01244)|Betamethasone(DB00443)|Bexarotene(DB00307)|Bortezomib(DB00188)|Bosentan(DB00559)|Bromocriptine(DB01200)|Budesonide(DB01222)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Buspirone(DB00490)|Busulfan(DB01008)|Carbamazepine(DB00564)|Cevimeline(DB00185)|Chlorpheniramine(DB01114)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cinacalcet(DB01012)|Cisapride(DB00604)|Clarithromycin(DB01211)|Clindamycin(DB01190)|Clofibrate(DB00636)|Clonazepam(DB01068)|Clopidogrel(DB00758)|Cocaine(DB00907)|Conivaptan(DB00872)|Conjugated Estrogens(DB00286)|Cyproterone(DB04839)|Darifenacin(DB00496)|Darunavir(DB01264)|Dasatinib(DB01254)|Delavirdine(DB00705)|Desogestrel(DB00304)|Dexamethasone(DB01234)|Diazepam(DB00829)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dofetilide(DB00204)|Dolasetron(DB00757)|Domperidone(DB01184)|Donepezil(DB00843)|Doxorubicin(DB00997)|Drospirenone(DB01395)|Dutasteride(DB01126)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enalapril(DB00584)|Epirubicin(DB00445)|Eplerenone(DB00700)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethinyl Estradiol(DB00977)|Ethosuximide(DB00593)|Etonogestrel(DB00294)|Etoposide(DB00773)|Etoricoxib(DB01628)|Exemestane(DB00990)|Felodipine(DB01023)|Fentanyl(DB00813)|Fexofenadine(DB00950)|Finasteride(DB01216)|Fluconazole(DB00196)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Fosamprenavir(DB01319)|Fulvestrant(DB00947)|Galantamine(DB00674)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Granisetron(DB00889)|Grepafloxacin(DB00365)|Halofantrine(DB01218)|Hydrocodone(DB00956)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Hydromorphone(DB00327)|Imatinib(DB00619)|Indinavir(DB00224)|Ipratropium(DB00332)|Irinotecan(DB00762)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Isradipine(DB00270)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lercanidipine(DB00528)|Letrozole(DB01006)|Levobupivacaine(DB01002)|Levomethadyl Acetate(DB01227)|Levothyroxine(DB00451)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Maraviroc(DB04835)|Marinol(DB00470)|Mebendazole(DB00643)|Medroxyprogesterone(DB00603)|Methadone(DB00333)|Methylprednisolone(DB00959)|Metyrapone(DB01011)|Mibefradil(DB01388)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirtazapine(DB00370)|Modafinil(DB00745)|Mometasone(DB00764)|Montelukast(DB00471)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Norethindrone(DB00717)|Norgestrel(DB00506)|Nystatin(DB00646)|Ondansetron(DB00904)|Oxybutynin(DB01062)|Paclitaxel(DB01229)|Paliperidone(DB01267)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Paricalcitol(DB00910)|Phenmetrazine(DB00830)|Pimecrolimus(DB00337)|Pimozide(DB01100)|Pioglitazone(DB01132)|Posaconazole(DB01263)|Pranlukast(DB01411)|Prednisolone(DB00860)|Prednisone(DB00635)|Prochlorperazine(DB00433)|Quetiapine(DB01224)|Quinapril(DB00881)|Quinine(DB00468)|Rabeprazole(DB01129)|Ranolazine(DB00243)|Reboxetine(DB00234)|Retapamulin(DB01256)|Rifabutin(DB00615)|Rifampin(DB01045)|Rimonabant(DB06155)|Ritonavir(DB00503)|Rofecoxib(DB00533)|Roxithromycin(DB00778)|Salmeterol(DB00938)|Saquinavir(DB01232)|Sertindole(DB06144)|Sibutramine(DB01105)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|Solifenacin(DB01591)|Sorafenib(DB00398)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tadalafil(DB00820)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Terconazole(DB00251)|Terfenadine(DB00342)|Testosterone(DB00624)|Tiagabine(DB00906)|Ticlopidine(DB00208)|Tinidazole(DB00911)|Tiotropium(DB01409)|Tipranavir(DB00932)|Toremifene(DB00539)|Triazolam(DB00897)|Trimetrexate(DB01157)|Troglitazone(DB00197)|Valdecoxib(DB00580)|Vardenafil(DB00862)|Vinblastine(DB00570)|Vincristine(DB00541)|Vindesine(DB00309)|Vinorelbine(DB00361)|Voriconazole(DB00582)|Zaleplon(DB00962)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolpidem(DB00425)|Zonisamide(DB00909)	ACCATGTCAAGATACTCCATC	0.398													5	86					0	0	1	0	0	C	99359851	G	C	99359851	3	2	352	1	0	0	0	0	1	0	0	0	4201	942	33	4	457	4	CYP3A4	7	99359851	Missense_Mutation	SNP	G	TCGA-P5-A5EV-01A-11D-A27K-08	5320960	99359851	59778812	43	31618											
GIGYF1	64599	broad.mit.edu	37	7	100281867	100281867	+	Missense_Mutation	SNP	C	C	G			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr7:100281867C>G	ENST00000275732.5	-	14	2932	c.1723G>C	c.(1723-1725)Gtc>Ctc	p.V575L		NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN	GRB10 interacting GYF protein 1	575	Gln-rich.									central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					TACCTGCTGACCAGCTGGAGA	0.657													25	18					0	0	1	0	0	G	100281867	C	G	100281867	3	3	352	1	0	0	0	0	1	0	0	0	6419	507	18	5	1428	5	GIGYF1	7	100281867	Missense_Mutation	SNP	C	TCGA-P5-A5EV-01A-11D-A27K-08	922016	100281867	58856796	44	31619											
SLC26A3	1811	broad.mit.edu	37	7	107423255	107423255	+	Missense_Mutation	SNP	G	G	T			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr7:107423255G>T	ENST00000340010.5	-	11	1482	c.1298C>A	c.(1297-1299)gCg>gAg	p.A433E	SLC26A3_ENST00000422236.2_Missense_Mutation_p.A398E	NM_000111.2	NP_000102.1	P40879	S26A3_HUMAN	solute carrier family 26 (anion exchanger), member 3	433					excretion	integral to membrane|membrane fraction	inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						TTGTAGAGGCGCCAGGAGAAA	0.413													9	140					0.010729	0.0107983	1	1	0	T	107423255	G	T	107423255	3	4	352	1	0	0	0	0	1	0	0	0	14573	1087	38	5	1040	5	SLC26A3	7	107423255	Missense_Mutation	SNP	G	TCGA-P5-A5EV-01A-11D-A27K-08	7141388	107423255	51715408	45	31620											
EXOC4	60412	broad.mit.edu	37	7	133692502	133692502	+	Missense_Mutation	SNP	C	C	G			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr7:133692502C>G	ENST00000253861.4	+	17	2630	c.2601C>G	c.(2599-2601)atC>atG	p.I867M	EXOC4_ENST00000539845.1_Missense_Mutation_p.I766M|EXOC4_ENST00000541309.1_Missense_Mutation_p.I155M|EXOC4_ENST00000545148.1_Missense_Mutation_p.I477M	NM_021807.3	NP_068579.3	Q96A65	EXOC4_HUMAN	exocyst complex component 4	867					vesicle docking involved in exocytosis	exocyst	protein N-terminus binding			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	50		Esophageal squamous(399;0.129)				AGTCTGGCATCAAGAAAATGT	0.522													10	51					0	0	1	0	0	G	133692502	C	G	133692502	3	3	352	1	0	0	0	0	1	0	0	0	5333	816	29	5	2676	5	EXOC4	7	133692502	Missense_Mutation	SNP	C	TCGA-P5-A5EV-01A-11D-A27K-08	26269247	133692502	25446161	46	31621											
TAS2R4	50832	broad.mit.edu	37	7	141478741	141478741	+	Missense_Mutation	SNP	C	C	G			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr7:141478741C>G	ENST00000247881.2	+	1	500	c.453C>G	c.(451-453)agC>agG	p.S151R	SSBP1_ENST00000465582.1_Intron	NM_016944.1	NP_058640.1	Q9NYW5	TA2R4_HUMAN	taste receptor, type 2, member 4	151					sensory perception of taste	cilium membrane	taste receptor activity			endometrium(1)|large_intestine(4)|lung(2)	7	Melanoma(164;0.0171)			BRCA - Breast invasive adenocarcinoma(188;0.196)		TCACGCTTAGCCAGGCATCAC	0.468													7	342					0	0	1	0	0	G	141478741	C	G	141478741	3	3	352	1	0	0	0	0	1	0	0	0	15634	738	26	5	455	5	TAS2R4	7	141478741	Missense_Mutation	SNP	C	TCGA-P5-A5EV-01A-11D-A27K-08	7786239	141478741	17659922	47	31622											
CDH17	1015	broad.mit.edu	37	8	95143113	95143113	+	Missense_Mutation	SNP	A	A	G			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr8:95143113A>G	ENST00000027335.3	-	16	2399	c.2275T>C	c.(2275-2277)Tct>Cct	p.S759P	CDH17_ENST00000450165.2_Missense_Mutation_p.S759P|CDH17_ENST00000441892.2_Missense_Mutation_p.S545P	NM_004063.3	NP_004054.3	Q12864	CAD17_HUMAN	cadherin 17, LI cadherin (liver-intestine)	759	Cadherin 7.					integral to membrane	calcium ion binding			NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			CCTGGTAAAGAAACAATGCCT	0.493													5	114					0	0	1	0	0	G	95143113	A	G	95143113	3	3	352	1	0	0	0	0	1	0	0	0	3124	246	9	3	235	3	CDH17	8	95143113	Missense_Mutation	SNP	A	TCGA-P5-A5EV-01A-11D-A27K-08		95143113	51220909	48	31623											
VPS13B	157680	broad.mit.edu	37	8	100829810	100829810	+	Missense_Mutation	SNP	C	C	G			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr8:100829810C>G	ENST00000358544.2	+	45	8326	c.8215C>G	c.(8215-8217)Caa>Gaa	p.Q2739E	VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Missense_Mutation_p.Q2714E	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	2739					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TTACTTGTCTCAAAGCATAGA	0.373													24	54					0	0	1	0	0	G	100829810	C	G	100829810	3	3	352	1	0	0	0	0	1	0	0	0	17250	827	29	5	8583	5	VPS13B	8	100829810	Missense_Mutation	SNP	C	TCGA-P5-A5EV-01A-11D-A27K-08	5686697	100829810	45534212	49	31624											
SCRIB	23513	broad.mit.edu	37	8	144895232	144895232	+	Missense_Mutation	SNP	G	G	C			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr8:144895232G>C	ENST00000356994.2	-	7	616	c.610C>G	c.(610-612)Ctt>Gtt	p.L204V	SCRIB_ENST00000320476.3_Missense_Mutation_p.L204V|SCRIB_ENST00000377533.3_Missense_Mutation_p.L123V	NM_182706.4	NP_874365	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	204	Sufficient for targeting to adherens junction and to inhibit cell proliferation.				activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	cell-cell adherens junction|Scrib-APC-beta-catenin complex	protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			TTCCGGTCAAGCCACAGCTCC	0.627													5	14					0	0	1	0	0	C	144895232	G	C	144895232	3	2	352	1	0	0	0	0	1	0	0	0	13991	971	34	4	4481	4	SCRIB	8	144895232	Missense_Mutation	SNP	G	TCGA-P5-A5EV-01A-11D-A27K-08	44065422	144895232	1468790	50	31625											
KIAA1161	57462	broad.mit.edu	37	9	34372002	34372002	+	Nonsense_Mutation	SNP	G	G	A			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr9:34372002G>A	ENST00000297625.7	-	2	1063	c.838C>T	c.(838-840)Cga>Tga	p.R280*		NM_020702.3	NP_065753.2	Q6NSJ0	K1161_HUMAN	KIAA1161	314					carbohydrate metabolic process	integral to membrane	hydrolase activity, hydrolyzing O-glycosyl compounds			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.126)		ATGGGGTCTCGGAAGGCCTCG	0.612													8	53					0	0	1	0	0	A	34372002	G	A	34372002	4	1	352	1	0	0	0	0	0	1	0	0	8253	1124	39	1	1208	1	KIAA1161	9	34372002	Nonsense_Mutation	SNP	G	TCGA-P5-A5EV-01A-11D-A27K-08		34372002	106841429	51	31626											
C9orf24	84688	broad.mit.edu	37	9	34381050	34381050	+	Silent	SNP	G	G	A			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr9:34381050G>A	ENST00000297623.2	-	5	750	c.552C>T	c.(550-552)tgC>tgT	p.C184C	C9orf24_ENST00000379124.1_Silent_p.C49C|C9orf24_ENST00000379127.1_Silent_p.C49C|C9orf24_ENST00000379133.3_Silent_p.C49C|C9orf24_ENST00000379126.3_Intron	NM_032596.3	NP_115985.2	Q8NCR6	CI024_HUMAN	chromosome 9 open reading frame 24	184										endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	5			LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.123)		GCGGGTCCACGCACCCGCATC	0.677													3	23					0	0	1	0	0	A	34381050	G	A	34381050	2	1	352	1	0	0	0	0	0	0	0	1	2493	1079	38	1		1	C9orf24	9	34381050	Silent	SNP	G	TCGA-P5-A5EV-01A-11D-A27K-08	9048	34381050	106832381	52	31627											
COL27A1	85301	broad.mit.edu	37	9	116930987	116930987	+	Frame_Shift_Del	DEL	C	C	-			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr9:116930987delC	ENST00000356083.3	+	3	1543	c.1152delC	c.(1150-1152)agcfs	p.S384fs		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	384	Pro-rich.				cell adhesion		extracellular matrix structural constituent			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						CCATCAAAAGCCCCCATCCTA	0.532													12	218	---	---	---	---						-	116930987	C	-	116930987	7	5	352	1	0	1	0	1	0	0	0	0	3708	738	26	0	1162	0	COL27A1	9	116930987	Frame_Shift_Del	DEL	C	TCGA-P5-A5EV-01A-11D-A27K-08	82549937	116930987	24282444	53	31628											
TNFSF8	944	broad.mit.edu	37	9	117666521	117666521	+	Missense_Mutation	SNP	A	A	G			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr9:117666521A>G	ENST00000223795.2	-	4	508	c.395T>C	c.(394-396)gTg>gCg	p.V132A	TNFSF8_ENST00000474301.1_5'UTR	NM_001244.3	NP_001235.1	P32971	TNFL8_HUMAN	tumor necrosis factor (ligand) superfamily, member 8	132					cell proliferation|cell-cell signaling|immune response|induction of apoptosis|signal transduction	extracellular space|integral to plasma membrane	cytokine activity|tumor necrosis factor receptor binding			endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|skin(3)|urinary_tract(1)	12						GAATTGGATCACCAGATTCCC	0.408													4	132					0	0	1	0	0	G	117666521	A	G	117666521	3	3	352	1	0	0	0	0	1	0	0	0	16371	159	6	3	313	3	TNFSF8	9	117666521	Missense_Mutation	SNP	A	TCGA-P5-A5EV-01A-11D-A27K-08	735534	117666521	23546910	54	31629											
PFKFB3	5209	broad.mit.edu	37	10	6257194	6257194	+	Silent	SNP	C	C	G			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr10:6257194C>G	ENST00000379775.4	+	3	543	c.213C>G	c.(211-213)gtC>gtG	p.V71V	PFKFB3_ENST00000379789.4_Silent_p.V51V|PFKFB3_ENST00000379782.3_Silent_p.V71V|PFKFB3_ENST00000379785.1_Silent_p.V71V|PFKFB3_ENST00000540253.1_Silent_p.V85V|PFKFB3_ENST00000360521.2_Silent_p.V71V|PFKFB3_ENST00000536985.1_Silent_p.V51V|PFKFB3_ENST00000317350.4_Silent_p.V71V	NM_004566.3	NP_004557.1	Q16875	F263_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3	71	6-phosphofructo-2-kinase.				fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|liver(2)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)	22						TGTTCAACGTCGGGGAGTATC	0.577													13	35					0	0	1	0	0	G	6257194	C	G	6257194	2	3	352	1	0	0	0	0	0	0	0	1	11810	871	31	5		5	PFKFB3	10	6257194	Silent	SNP	C	TCGA-P5-A5EV-01A-11D-A27K-08		6257194	129277553	55	31630											
ANXA7	310	broad.mit.edu	37	10	75148122	75148122	+	Missense_Mutation	SNP	G	G	C			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr10:75148122G>C	ENST00000372921.5	-	6	542	c.486C>G	c.(484-486)aaC>aaG	p.N162K	ANXA7_ENST00000535178.1_Missense_Mutation_p.N32K|ANXA7_ENST00000492380.1_5'UTR	NM_001156.3	NP_001147.1	P20073	ANXA7_HUMAN	annexin A7								calcium ion binding|calcium-dependent phospholipid binding|calcium-dependent protein binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	26	Prostate(51;0.0119)					TAGCATCGAAGTTGGCAGCTG	0.378													21	46					0	0	1	0	0	C	75148122	G	C	75148122	3	2	352	1	0	0	0	0	1	0	0	0	717	1020	36	4	946	4	ANXA7	10	75148122	Missense_Mutation	SNP	G	TCGA-P5-A5EV-01A-11D-A27K-08	68890928	75148122	60386625	56	31631											
DLG5	9231	broad.mit.edu	37	10	79589994	79589994	+	Missense_Mutation	SNP	T	T	A			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr10:79589994T>A	ENST00000372391.2	-	11	1995	c.1990A>T	c.(1990-1992)Att>Ttt	p.I664F	DLG5_ENST00000372388.2_Missense_Mutation_p.I664F	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	664	PDZ 1.				cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			CCATCAGCAATGCTTCCTTTG	0.542													32	76					0	0	1	0	0	A	79589994	T	A	79589994	3	1	352	1	0	0	0	0	1	0	0	0	4586	1464	51	4	3857	4	DLG5	10	79589994	Missense_Mutation	SNP	T	TCGA-P5-A5EV-01A-11D-A27K-08	4441872	79589994	55944753	57	31632											
GHITM	27069	broad.mit.edu	37	10	85901358	85901358	+	Missense_Mutation	SNP	G	G	C			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr10:85901358G>C	ENST00000372134.3	+	2	295	c.102G>C	c.(100-102)aaG>aaC	p.K34N		NM_014394.2	NP_055209.2	Q9H3K2	GHITM_HUMAN	growth hormone inducible transmembrane protein	34					apoptosis	integral to membrane|mitochondrial inner membrane				breast(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(2)	10						CCATCACGAAGAATCAATGGC	0.448													33	77					0	0	1	0	0	C	85901358	G	C	85901358	3	2	352	1	0	0	0	0	1	0	0	0	6412	933	33	4	104	4	GHITM	10	85901358	Missense_Mutation	SNP	G	TCGA-P5-A5EV-01A-11D-A27K-08	6311364	85901358	49633389	58	31633											
CD151	977	broad.mit.edu	37	11	837606	837606	+	Missense_Mutation	SNP	C	C	G			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr11:837606C>G	ENST00000397420.3	+	7	852	c.603C>G	c.(601-603)atC>atG	p.I201M	CD151_ENST00000322008.4_Missense_Mutation_p.I201M|CD151_ENST00000397421.1_Missense_Mutation_p.I201M|CD151_ENST00000528011.1_Missense_Mutation_p.I201M			P48509	CD151_HUMAN	CD151 molecule (Raph blood group)	201					cell adhesion|hemidesmosome assembly	cytosol|integral to plasma membrane|membrane fraction	protein binding			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	3		all_cancers(49;2.31e-08)|all_epithelial(84;3.72e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.179)|all_lung(207;0.227)		all cancers(45;1.54e-25)|Epithelial(43;1.22e-24)|OV - Ovarian serous cystadenocarcinoma(40;6.91e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CCTCCAACATCTACAAGGTGG	0.642													5	66					0	0	1	0	0	G	837606	C	G	837606	3	3	352	1	0	0	0	0	1	0	0	0	2987	903	32	4	621	4	CD151	11	837606	Missense_Mutation	SNP	C	TCGA-P5-A5EV-01A-11D-A27K-08		837606	134168910	59	31634											
MUC5B	727897	broad.mit.edu	37	11	1265832	1265832	+	Silent	SNP	C	C	G			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr11:1265832C>G	ENST00000447027.1	+	31	7789	c.7731C>G	c.(7729-7731)gtC>gtG	p.V2577V	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000529681.1_Silent_p.V2574V			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	2574	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398).	cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CAGAGACTGTCCACACCTCCA	0.652													77	204					0	0	1	0	0	G	1265832	C	G	1265832	2	3	352	1	0	0	0	0	0	0	0	1	10027	842	30	5		5	MUC5B	11	1265832	Silent	SNP	C	TCGA-P5-A5EV-01A-11D-A27K-08	428226	1265832	133740684	60	31635											
LGR4	55366	broad.mit.edu	37	11	27389533	27389533	+	Missense_Mutation	SNP	C	C	G			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr11:27389533C>G	ENST00000379214.4	-	18	3180	c.2737G>C	c.(2737-2739)Gat>Cat	p.D913H	LGR4_ENST00000389858.4_Missense_Mutation_p.D889H	NM_018490.2	NP_060960.2	Q9BXB1	LGR4_HUMAN	leucine-rich repeat containing G protein-coupled receptor 4	913						integral to membrane|plasma membrane	protein-hormone receptor activity			NS(3)|breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(10)|ovary(1)	32						ACAAAGGAATCTTCTTCATCT	0.532													4	136					0	0	1	0	0	G	27389533	C	G	27389533	3	3	352	1	0	0	0	0	1	0	0	0	8796	913	32	4	122	4	LGR4	11	27389533	Missense_Mutation	SNP	C	TCGA-P5-A5EV-01A-11D-A27K-08	26123701	27389533	107616983	61	31636											
PTPMT1	114971	broad.mit.edu	37	11	47587461	47587461	+	Missense_Mutation	SNP	G	G	C			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr11:47587461G>C	ENST00000534775.1	+	1	452	c.287G>C	c.(286-288)gGt>gCt	p.G96A	PTPMT1_ENST00000426530.2_Missense_Mutation_p.G96A|NDUFS3_ENST00000533507.1_3'UTR|PTPMT1_ENST00000527079.2_3'UTR|PTPMT1_ENST00000326674.9_Missense_Mutation_p.V60L|PTPMT1_ENST00000326656.8_Missense_Mutation_p.V60L			Q8WUK0	PTPM1_HUMAN	protein tyrosine phosphatase, mitochondrial 1	0					inositol phosphate dephosphorylation	mitochondrial inner membrane	phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			breast(1)|kidney(1)|large_intestine(2)|lung(1)|skin(1)	6						TCGGCAGCTGGTACAGGACGA	0.682													3	59					0	0	1	0	0	C	47587461	G	C	47587461	3	2	352	1	0	0	0	0	1	0	0	0	12828	1261	44	5	289	5	PTPMT1	11	47587461	Missense_Mutation	SNP	G	TCGA-P5-A5EV-01A-11D-A27K-08	20197928	47587461	87419055	62	31637											
OR5I1	10798	broad.mit.edu	37	11	55703522	55703522	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr11:55703522C>T	ENST00000301532.3	-	1	354	c.355G>A	c.(355-357)Gcc>Acc	p.A119T		NM_006637.1	NP_006628.1	Q13606	OR5I1_HUMAN	olfactory receptor, family 5, subfamily I, member 1	119					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A119T(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(34)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						TAGGCCATGGCGGCCAGGATG	0.433													5	61					0	0	1	0	0	T	55703522	C	T	55703522	3	4	352	1	0	0	0	0	1	0	0	0	11211	768	27	1	592	1	OR5I1	11	55703522	Missense_Mutation	SNP	C	TCGA-P5-A5EV-01A-11D-A27K-08	8116061	55703522	79302994	63	31638											
MS4A4A	51338	broad.mit.edu	37	11	60068530	60068530	+	Splice_Site	SNP	G	G	C			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr11:60068530G>C	ENST00000355131.3	+	5	553	c.330G>C	c.(328-330)ctG>ctC	p.L110L	MS4A4A_ENST00000337908.4_Splice_Site_p.L129L|MS4A4A_ENST00000395016.3_Splice_Site_p.L110L|MS4A4A_ENST00000532114.1_Splice_Site_p.L129L	NM_024021.3	NP_076926.2	Q96JQ5	M4A4A_HUMAN	membrane-spanning 4-domains, subfamily A, member 4A	129						integral to membrane	receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(12)|prostate(1)|skin(4)	23						CAAAAGGCCTGGTGAGTAATA	0.299													8	11					0	0	1	0	0	C	60068530	G	C	60068530	5	2	352	1	0	0	0	0	0	0	1	0	9911	1362	47	5	401	5	MS4A4A	11	60068530	Splice_Site	SNP	G	TCGA-P5-A5EV-01A-11D-A27K-08	4365008	60068530	74937986	64	31639											
NAA40	79829	broad.mit.edu	37	11	63721927	63721927	+	Silent	SNP	G	G	C			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr11:63721927G>C	ENST00000377793.4	+	8	791	c.690G>C	c.(688-690)ggG>ggC	p.G230G	NAA40_ENST00000539656.1_Silent_p.G117G|NAA40_ENST00000456907.2_Silent_p.G190G|NAA40_ENST00000542163.1_Silent_p.G209G	NM_024771.2	NP_079047.2	Q86UY6	NAA40_HUMAN	N(alpha)-acetyltransferase 40, NatD catalytic subunit	230							N-acetyltransferase activity			NS(1)|endometrium(1)|lung(2)|prostate(1)	5						ACGCGGGTGGGCACTGTGGTG	0.582													12	73					0	0	1	0	0	C	63721927	G	C	63721927	2	2	352	1	0	0	0	0	0	0	0	1	10173	1190	42	5		5	NAA40	11	63721927	Silent	SNP	G	TCGA-P5-A5EV-01A-11D-A27K-08	3653397	63721927	71284589	65	31640											
DDI1	414301	broad.mit.edu	37	11	103908169	103908169	+	Missense_Mutation	SNP	G	G	C			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr11:103908169G>C	ENST00000302259.3	+	1	862	c.619G>C	c.(619-621)Gat>Cat	p.D207H	PDGFD_ENST00000393158.2_Intron|PDGFD_ENST00000302251.5_Intron	NM_001001711.2	NP_001001711.1	Q8WTU0	DDI1_HUMAN	DNA-damage inducible 1 homolog 1 (S. cerevisiae)	207					proteolysis		aspartic-type endopeptidase activity			central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)		CGACCCACTGGATCGGGAAGC	0.502													64	94					0	0	1	0	0	C	103908169	G	C	103908169	3	2	352	1	0	0	0	0	1	0	0	0	4351	1174	41	5	621	5	DDI1	11	103908169	Missense_Mutation	SNP	G	TCGA-P5-A5EV-01A-11D-A27K-08	40186242	103908169	31098347	66	31641											
PHB2	11331	broad.mit.edu	37	12	7077734	7077734	+	Missense_Mutation	SNP	A	A	T			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr12:7077734A>T	ENST00000535923.1	-	4	598	c.317T>A	c.(316-318)cTg>cAg	p.L106Q	PHB2_ENST00000440277.1_Missense_Mutation_p.L106Q|PHB2_ENST00000399433.2_Missense_Mutation_p.L106Q|PHB2_ENST00000542912.1_Missense_Mutation_p.L106Q|PHB2_ENST00000546111.1_Intron|PHB2_ENST00000544134.1_5'UTR	NM_001144831.1	NP_001138303.1	Q99623	PHB2_HUMAN	prohibitin 2	106					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial inner membrane|nucleus	estrogen receptor binding|receptor activity			ovary(2)|pancreas(1)	3						CAACACTCGCAGGGAGATATT	0.532													13	38					0	0	1	0	0	T	7077734	A	T	7077734	3	4	352	1	0	0	0	0	1	0	0	0	11863	188	7	5	606	5	PHB2	12	7077734	Missense_Mutation	SNP	A	TCGA-P5-A5EV-01A-11D-A27K-08		7077734	126774161	67	31642											
CD163L1	283316	broad.mit.edu	37	12	7526162	7526162	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr12:7526162C>T	ENST00000313599.3	-	14	3541	c.3484G>A	c.(3484-3486)Ggg>Agg	p.G1162R	CD163L1_ENST00000416109.2_Missense_Mutation_p.G1172R|CD163L1_ENST00000396630.1_Missense_Mutation_p.G1162R			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	1162	SRCR 11.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						CCCCAGGTCCCGTTATAGAAG	0.517													126	186					0	0	1	0	0	T	7526162	C	T	7526162	3	4	352	1	0	0	0	0	1	0	0	0	2990	652	23	1	901	1	CD163L1	12	7526162	Missense_Mutation	SNP	C	TCGA-P5-A5EV-01A-11D-A27K-08	448428	7526162	126325733	68	31643											
HEBP1	50865	broad.mit.edu	37	12	13128274	13128274	+	Missense_Mutation	SNP	G	G	A	rs76698360	by1000genomes	TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr12:13128274G>A	ENST00000014930.4	-	4	696	c.538C>T	c.(538-540)Cgg>Tgg	p.R180W	RP11-392P7.6_ENST00000545914.1_RNA|HEBP1_ENST00000540916.1_5'UTR|RP11-392P7.6_ENST00000543515.2_RNA|RP11-392P7.6_ENST00000542078.1_RNA|RP11-392P7.6_ENST00000536029.1_RNA	NM_015987.4	NP_057071.2	Q9NRV9	HEBP1_HUMAN	heme binding protein 1	180					circadian rhythm	extracellular region				breast(1)|endometrium(1)|large_intestine(3)|lung(1)|urinary_tract(1)	7		Prostate(47;0.183)		BRCA - Breast invasive adenocarcinoma(232;0.153)		TCATTGCGCCGTCCGTAGGGC	0.587													35	119					0	0	1	0	0	A	13128274	G	A	13128274	3	1	352	1	0	0	0	0	1	0	0	0	7077	1144	40	1	35	1	HEBP1	12	13128274	Missense_Mutation	SNP	G	TCGA-P5-A5EV-01A-11D-A27K-08	5602112	13128274	120723621	69	31644											
CCDC91	55297	broad.mit.edu	37	12	28544295	28544295	+	Missense_Mutation	SNP	C	C	G			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr12:28544295C>G	ENST00000545336.1	+	11	1132	c.713C>G	c.(712-714)tCt>tGt	p.S238C	CCDC91_ENST00000539107.1_Intron|CCDC91_ENST00000381259.1_Missense_Mutation_p.S238C|CCDC91_ENST00000381256.1_Intron|CCDC91_ENST00000306172.5_Missense_Mutation_p.S208C|CCDC91_ENST00000540401.1_3'UTR			Q7Z6B0	CCD91_HUMAN	coiled-coil domain containing 91	238	Homodimerization.				protein transport	Golgi apparatus|membrane		p.S238F(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|skin(1)	22	Acute lymphoblastic leukemia(23;0.00718)|all_hematologic(23;0.0113)|Lung SC(9;0.184)					CAGTACATTTCTGCAATTGAG	0.368													27	48					0	0	1	0	0	G	28544295	C	G	28544295	3	3	352	1	0	0	0	0	1	0	0	0	2890	913	32	4	739	4	CCDC91	12	28544295	Missense_Mutation	SNP	C	TCGA-P5-A5EV-01A-11D-A27K-08	15416021	28544295	105307600	70	31645											
SYT10	341359	broad.mit.edu	37	12	33529816	33529816	+	Silent	SNP	A	A	G			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr12:33529816A>G	ENST00000228567.3	-	7	1817	c.1521T>C	c.(1519-1521)agT>agC	p.S507S	SYT10_ENST00000535526.1_Silent_p.S326S	NM_198992.3	NP_945343.1	Q6XYQ8	SYT10_HUMAN	synaptotagmin X	507						cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					GACTATCAAAACTGGTCGCCC	0.413													35	61					0	0	1	0	0	G	33529816	A	G	33529816	2	3	352	1	0	0	0	0	0	0	0	1	15523	40	2	3		3	SYT10	12	33529816	Silent	SNP	A	TCGA-P5-A5EV-01A-11D-A27K-08	4985521	33529816	100322079	71	31646											
MYF5	4617	broad.mit.edu	37	12	81111280	81111280	+	Silent	SNP	T	T	C			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr12:81111280T>C	ENST00000228644.3	+	1	590	c.438T>C	c.(436-438)taT>taC	p.Y146Y		NM_005593.2	NP_005584.2	P13349	MYF5_HUMAN	myogenic factor 5	146					muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1)	30						AGAACTACTATAGCCTGCCGG	0.577													102	172					0	0	1	0	0	C	81111280	T	C	81111280	2	2	352	1	0	0	0	0	0	0	0	1	10075	1413	49	3		3	MYF5	12	81111280	Silent	SNP	T	TCGA-P5-A5EV-01A-11D-A27K-08	47581464	81111280	52740615	72	31647											
TMTC2	160335	broad.mit.edu	37	12	83289967	83289967	+	Missense_Mutation	SNP	T	T	C			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr12:83289967T>C	ENST00000549919.1	+	4	2812	c.1007T>C	c.(1006-1008)gTa>gCa	p.V336A	TMTC2_ENST00000321196.3_Missense_Mutation_p.V342A|TMTC2_ENST00000548305.1_Missense_Mutation_p.V342A			Q8N394	TMTC2_HUMAN	transmembrane and tetratricopeptide repeat containing 2	342						endoplasmic reticulum|integral to membrane	binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1)	39						GGGAAAACTGTAACAAATGGC	0.448													6	141					0	0	1	0	0	C	83289967	T	C	83289967	3	2	352	1	0	0	0	0	1	0	0	0	16321	1638	57	3	1035	3	TMTC2	12	83289967	Missense_Mutation	SNP	T	TCGA-P5-A5EV-01A-11D-A27K-08	2178687	83289967	50561928	73	31648											
CUX2	23316	broad.mit.edu	37	12	111786107	111786107	+	Missense_Mutation	SNP	A	A	T			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr12:111786107A>T	ENST00000261726.6	+	22	4593	c.4439A>T	c.(4438-4440)gAg>gTg	p.E1480V		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	1480						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						AATCGGGAGGAGGCCCTGGAG	0.572													5	186					0	0	1	0	0	T	111786107	A	T	111786107	3	4	352	1	0	0	0	0	1	0	0	0	4088	304	11	5	4525	5	CUX2	12	111786107	Missense_Mutation	SNP	A	TCGA-P5-A5EV-01A-11D-A27K-08	28496140	111786107	22065788	74	31649											
PLBD2	196463	broad.mit.edu	37	12	113824841	113824841	+	Silent	SNP	C	C	T			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr12:113824841C>T	ENST00000280800.3	+	10	1417	c.1386C>T	c.(1384-1386)ttC>ttT	p.F462F	PLBD2_ENST00000545182.2_Silent_p.F430F	NM_173542.3	NP_775813.2	Q8NHP8	PLBL2_HUMAN	phospholipase B domain containing 2	462					lipid catabolic process	lysosomal lumen	hydrolase activity			breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						CCCAGATCTTCCGGCGGAACC	0.607													14	162					0	0	1	0	0	T	113824841	C	T	113824841	2	4	352	1	0	0	0	0	0	0	0	1	12074	854	30	2		2	PLBD2	12	113824841	Silent	SNP	C	TCGA-P5-A5EV-01A-11D-A27K-08	2038734	113824841	20027054	75	31650	140	3									
PLBD2	196463	broad.mit.edu	37	12	113824842	113824842	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr12:113824842C>T	ENST00000280800.3	+	10	1418	c.1387C>T	c.(1387-1389)Cgg>Tgg	p.R463W	PLBD2_ENST00000545182.2_Missense_Mutation_p.R431W	NM_173542.3	NP_775813.2	Q8NHP8	PLBL2_HUMAN	phospholipase B domain containing 2	463					lipid catabolic process	lysosomal lumen	hydrolase activity	p.R463R(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						CCAGATCTTCCGGCGGAACCA	0.607													14	161					0	0	1	0	0	T	113824842	C	T	113824842	3	4	352	1	0	0	0	0	1	0	0	0	12074	643	23	1	1425	1	PLBD2	12	113824842	Missense_Mutation	SNP	C	TCGA-P5-A5EV-01A-11D-A27K-08	1	113824842	20027053	76	31651	140	3									
PLBD2	196463	broad.mit.edu	37	12	113824843	113824843	+	Missense_Mutation	SNP	G	G	T			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr12:113824843G>T	ENST00000280800.3	+	10	1419	c.1388G>T	c.(1387-1389)cGg>cTg	p.R463L	PLBD2_ENST00000545182.2_Missense_Mutation_p.R431L	NM_173542.3	NP_775813.2	Q8NHP8	PLBL2_HUMAN	phospholipase B domain containing 2	463					lipid catabolic process	lysosomal lumen	hydrolase activity			breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						CAGATCTTCCGGCGGAACCAG	0.602													14	158					3.41278e-10	3.4797e-10	1	1	0	T	113824843	G	T	113824843	3	4	352	1	0	0	0	0	1	0	0	0	12074	1116	39	5	1426	5	PLBD2	12	113824843	Missense_Mutation	SNP	G	TCGA-P5-A5EV-01A-11D-A27K-08	1	113824843	20027052	77	31652	140	3									
ATP12A	479	broad.mit.edu	37	13	25268628	25268628	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr13:25268628C>T	ENST00000218548.6	+	11	1775	c.1442C>T	c.(1441-1443)tCa>tTa	p.S481L	ATP12A_ENST00000381946.3_Missense_Mutation_p.S475L	NM_001185085.1|NM_001676.5	NP_001172014.1|NP_001667.4	P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	475					ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding			breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)	TTAAAATTCTCAGAGGTCATT	0.353											OREG0022298	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	49	78					0	0	1	0	0	T	25268628	C	T	25268628	3	4	352	1	0	0	0	0	1	0	0	0	1121	838	29	2	1484	2	ATP12A	13	25268628	Missense_Mutation	SNP	C	TCGA-P5-A5EV-01A-11D-A27K-08		25268628	89901250	78	31653											
LNX2	222484	broad.mit.edu	37	13	28155696	28155696	+	Missense_Mutation	SNP	C	C	G			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr13:28155696C>G	ENST00000316334.3	-	2	274	c.145G>C	c.(145-147)Gtc>Ctc	p.V49L		NM_153371.3	NP_699202.1	Q8N448	LNX2_HUMAN	ligand of numb-protein X 2	49							zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	31		Lung SC(185;0.0156)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.113)|all cancers(112;0.127)|Epithelial(112;0.248)		ATATGGCAGACTAGGTCATCA	0.443													4	109					0	0	1	0	0	G	28155696	C	G	28155696	3	3	352	1	0	0	0	0	1	0	0	0	8907	565	20	4	1963	4	LNX2	13	28155696	Missense_Mutation	SNP	C	TCGA-P5-A5EV-01A-11D-A27K-08	2887068	28155696	87014182	79	31654											
KL	9365	broad.mit.edu	37	13	33591133	33591133	+	Silent	SNP	G	G	C			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr13:33591133G>C	ENST00000380099.3	+	1	563	c.555G>C	c.(553-555)gtG>gtC	p.V185V	KL_ENST00000487852.1_3'UTR|KL_ENST00000426690.2_Intron	NM_004795.3	NP_004786.2	Q9UEF7	KLOT_HUMAN	klotho	185	Glycosyl hydrolase-1 1.				aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		AGCTGGGCGTGCAGCCCGTGG	0.736													8	6					0	0	1	0	0	C	33591133	G	C	33591133	2	2	352	1	0	0	0	0	0	0	0	1	8374	1306	46	5		5	KL	13	33591133	Silent	SNP	G	TCGA-P5-A5EV-01A-11D-A27K-08	5435437	33591133	81578745	80	31655											
FARP1	10160	broad.mit.edu	37	13	99098434	99098434	+	Missense_Mutation	SNP	G	G	C			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr13:99098434G>C	ENST00000376586.2	+	26	3308	c.2972G>C	c.(2971-2973)tGc>tCc	p.C991S	FARP1_ENST00000595437.1_Missense_Mutation_p.C991S|FARP1_ENST00000319562.6_Missense_Mutation_p.C960S			Q9Y4F1	FARP1_HUMAN	FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)	960	PH 2.				regulation of Rho protein signal transduction	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity			breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			ACAAACTTCTGCCTGTTCTTC	0.562											OREG0022474	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	61					0	0	1	0	0	C	99098434	G	C	99098434	3	2	352	1	0	0	0	0	1	0	0	0	5709	1319	46	5	3196	5	FARP1	13	99098434	Missense_Mutation	SNP	G	TCGA-P5-A5EV-01A-11D-A27K-08	65507301	99098434	16071444	81	31656											
LIG4	3981	broad.mit.edu	37	13	108861247	108861247	+	Silent	SNP	T	T	C			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr13:108861247T>C	ENST00000356922.4	-	2	2642	c.2370A>G	c.(2368-2370)gaA>gaG	p.E790E	LIG4_ENST00000442234.1_Silent_p.E790E|LIG4_ENST00000405925.1_Silent_p.E790E	NM_002312.3|NM_206937.1	NP_002303.2|NP_996820.1	P49917	DNLI4_HUMAN	ligase IV, DNA, ATP-dependent	790					cell cycle|cell division|cell proliferation|central nervous system development|chromosome organization|DNA ligation involved in DNA recombination|DNA ligation involved in DNA repair|DNA replication|double-strand break repair via nonhomologous end joining|in utero embryonic development|initiation of viral infection|isotype switching|negative regulation of neuron apoptosis|neuron apoptosis|nucleotide-excision repair, DNA gap filling|positive regulation of fibroblast proliferation|positive regulation of neurogenesis|pro-B cell differentiation|provirus integration|response to gamma radiation|response to X-ray|single strand break repair|somatic stem cell maintenance|T cell differentiation in thymus|T cell receptor V(D)J recombination	condensed chromosome|cytoplasm|DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|focal adhesion|nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding|protein C-terminus binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)					AAGCCATTTCTTCAGGAGTCT	0.388								Non-homologous end-joining					17	36					0	0	1	0	0	C	108861247	T	C	108861247	2	2	352	1	0	0	0	0	0	0	0	1	8823	1606	56	3		3	LIG4	13	108861247	Silent	SNP	T	TCGA-P5-A5EV-01A-11D-A27K-08	9762813	108861247	6308631	82	31657											
HECTD1	25831	broad.mit.edu	37	14	31582665	31582665	+	Missense_Mutation	SNP	G	G	C			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr14:31582665G>C	ENST00000399332.1	-	33	6370	c.5882C>G	c.(5881-5883)tCt>tGt	p.S1961C	HECTD1_ENST00000553700.1_Missense_Mutation_p.S1961C	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	1961					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		GTTTAACCCAGACTTTGTTCC	0.363													4	211					0	0	1	0	0	C	31582665	G	C	31582665	3	2	352	1	0	0	0	0	1	0	0	0	7080	942	33	4	1994	4	HECTD1	14	31582665	Missense_Mutation	SNP	G	TCGA-P5-A5EV-01A-11D-A27K-08		31582665	75766875	83	31658	141	2									
HECTD1	25831	broad.mit.edu	37	14	31582671	31582671	+	Missense_Mutation	SNP	G	G	C			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr14:31582671G>C	ENST00000399332.1	-	33	6364	c.5876C>G	c.(5875-5877)aCa>aGa	p.T1959R	HECTD1_ENST00000553700.1_Missense_Mutation_p.T1959R	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	1959					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		CCCAGACTTTGTTCCATGCTC	0.358													4	199					0	0	1	0	0	C	31582671	G	C	31582671	3	2	352	1	0	0	0	0	1	0	0	0	7080	1377	48	5	2000	5	HECTD1	14	31582671	Missense_Mutation	SNP	G	TCGA-P5-A5EV-01A-11D-A27K-08	6	31582671	75766869	84	31659	141	2									
TECPR2	9895	broad.mit.edu	37	14	102891386	102891386	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr14:102891386C>T	ENST00000359520.7	+	6	935	c.709C>T	c.(709-711)Cgg>Tgg	p.R237W	TECPR2_ENST00000561228.1_3'UTR|TECPR2_ENST00000558678.1_Missense_Mutation_p.R237W	NM_014844.3	NP_055659.2	O15040	TCPR2_HUMAN	tectonin beta-propeller repeat containing 2	237							protein binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	50						GTATGCGTCACGGCCCGGGCT	0.448													5	68					0	0	1	0	0	T	102891386	C	T	102891386	3	4	352	1	0	0	0	0	1	0	0	0	15803	527	19	1	727	1	TECPR2	14	102891386	Missense_Mutation	SNP	C	TCGA-P5-A5EV-01A-11D-A27K-08	71308715	102891386	4458154	85	31660											
ATP10A	57194	broad.mit.edu	37	15	25940187	25940187	+	Missense_Mutation	SNP	G	G	C			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr15:25940187G>C	ENST00000356865.6	-	14	2978	c.2867C>G	c.(2866-2868)tCt>tGt	p.S956C		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	956					ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		TGGGCAGAGAGAGGAGAACCT	0.607													26	116					0	0	1	0	0	C	25940187	G	C	25940187	3	2	352	1	0	0	0	0	1	0	0	0	1115	942	33	4	1664	4	ATP10A	15	25940187	Missense_Mutation	SNP	G	TCGA-P5-A5EV-01A-11D-A27K-08		25940187	76591205	86	31661											
GCOM1	145781	broad.mit.edu	37	15	57976627	57976627	+	Silent	SNP	G	G	C	rs148332683		TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr15:57976627G>C	ENST00000574161.1	+	13	1451	c.1332G>C	c.(1330-1332)gtG>gtC	p.V444V	GCOM1_ENST00000484300.1_3'UTR|MYZAP_ENST00000380565.4_Silent_p.V416V|GCOM1_ENST00000380560.2_Silent_p.V375V|GCOM1_ENST00000396180.1_Silent_p.V413V|GCOM1_ENST00000572390.1_Silent_p.V416V|GCOM1_ENST00000380568.3_Intron|GCOM1_ENST00000380561.2_Intron|MYZAP_ENST00000267853.5_Silent_p.V444V|GCOM1_ENST00000380569.2_Intron|GCOM1_ENST00000587652.1_Intron|POLR2M_ENST00000380563.2_5'UTR	NM_001018100.3	NP_001018110.1	P0CAP1	GCOM1_HUMAN		444					intracellular signal transduction	extrinsic to internal side of plasma membrane|I band				endometrium(1)|kidney(2)|large_intestine(9)|liver(1)|lung(1)|ovary(1)|skin(2)|stomach(1)	18						GTGAAATTGTGATGCCTTCTA	0.433													4	164					0	0	1	0	0	C	57976627	G	C	57976627	2	2	352	1	0	0	0	0	0	0	0	1	6345	1277	45	5		5	GCOM1	15	57976627	Silent	SNP	G	TCGA-P5-A5EV-01A-11D-A27K-08	32036440	57976627	44554765	87	31662											
PDCD7	10081	broad.mit.edu	37	15	65425278	65425278	+	Missense_Mutation	SNP	C	C	G			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr15:65425278C>G	ENST00000204549.4	-	1	896	c.842G>C	c.(841-843)tGt>tCt	p.C281S		NM_005707.1	NP_005698.1	Q8N8D1	PDCD7_HUMAN	programmed cell death 7	281					apoptosis|induction of apoptosis|response to glucocorticoid stimulus	U12-type spliceosomal complex				endometrium(4)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	7						CTCCTGCACACACTTCACCCT	0.667													4	75					0	0	1	0	0	G	65425278	C	G	65425278	3	3	352	1	0	0	0	0	1	0	0	0	11672	478	17	5	635	5	PDCD7	15	65425278	Missense_Mutation	SNP	C	TCGA-P5-A5EV-01A-11D-A27K-08	7448651	65425278	37106114	88	31663											
ARID3B	10620	broad.mit.edu	37	15	74888092	74888092	+	Missense_Mutation	SNP	C	C	G			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr15:74888092C>G	ENST00000346246.5	+	9	1891	c.1660C>G	c.(1660-1662)Ccc>Gcc	p.P554A		NM_006465.2	NP_006456.1	Q8IVW6	ARI3B_HUMAN	AT rich interactive domain 3B (BRIGHT-like)	555	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(2)	14						CAGCGCAGAGCCCTCCACCAG	0.617													6	93					0	0	1	0	0	G	74888092	C	G	74888092	3	3	352	1	0	0	0	0	1	0	0	0	914	739	26	5	1690	5	ARID3B	15	74888092	Missense_Mutation	SNP	C	TCGA-P5-A5EV-01A-11D-A27K-08	9462814	74888092	27643300	89	31664											
CHSY1	22856	broad.mit.edu	37	15	101718744	101718744	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr15:101718744C>T	ENST00000254190.3	-	3	1733	c.1258G>A	c.(1258-1260)Gcc>Acc	p.A420T	CHSY1_ENST00000543813.1_5'UTR	NM_014918.4	NP_055733.2	Q86X52	CHSS1_HUMAN	chondroitin sulfate synthase 1	420					chondroitin sulfate biosynthetic process	Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(5)|skin(1)	24	Lung NSC(78;0.00217)|all_lung(78;0.00271)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CTGGTCTTGGCGTTGGCATTG	0.577													22	71					0	0	1	0	0	T	101718744	C	T	101718744	3	4	352	1	0	0	0	0	1	0	0	0	3434	768	27	1	1154	1	CHSY1	15	101718744	Missense_Mutation	SNP	C	TCGA-P5-A5EV-01A-11D-A27K-08	26830652	101718744	812648	90	31665											
C16orf11	146325	broad.mit.edu	37	16	615104	615104	+	Missense_Mutation	SNP	G	G	C			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr16:615104G>C	ENST00000409413.3	+	3	1792	c.1513G>C	c.(1513-1515)Ggc>Cgc	p.G505R		NM_145270.2	NP_660313.1	P0CG20	CP011_HUMAN	chromosome 16 open reading frame 11	505										central_nervous_system(1)|endometrium(1)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	10						CGGCATGCTGGGCCCTGCAGC	0.741													22	31					0	0	1	0	0	C	615104	G	C	615104	3	2	352	1	0	0	0	0	1	0	0	0	1817	1232	43	5	1519	5	C16orf11	16	615104	Missense_Mutation	SNP	G	TCGA-P5-A5EV-01A-11D-A27K-08		615104	89739649	91	31666											
TSC2	7249	broad.mit.edu	37	16	2138115	2138115	+	Missense_Mutation	SNP	C	C	G	rs137854136		TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr16:2138115C>G	ENST00000219476.3	+	40	5765	c.5135C>G	c.(5134-5136)gCc>gGc	p.A1712G	TSC2_ENST00000568454.1_Missense_Mutation_p.A1656G|TSC2_ENST00000382538.6_Missense_Mutation_p.A1597G|TSC2_ENST00000350773.4_Missense_Mutation_p.A1689G|TSC2_ENST00000353929.4_Missense_Mutation_p.A1669G|TSC2_ENST00000401874.2_Missense_Mutation_p.A1645G|TSC2_ENST00000439673.2_Missense_Mutation_p.A1609G	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	1712	Rap-GAP.		A -> E (in TSC2).		cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex	GTPase activator activity|protein homodimerization activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				CCCTTCGTGGCCCGCCAGATG	0.662			"D, Mis, N, F, S"			"hamartoma, renal cell"			Tuberous Sclerosis				71	107					0	0	1	0	0	G	2138115	C	G	2138115	3	3	352	1	0	0	0	0	1	0	0	0	16667	739	26	5	5289	5	TSC2	16	2138115	Missense_Mutation	SNP	C	TCGA-P5-A5EV-01A-11D-A27K-08	1523011	2138115	88216638	92	31667											
ZFHX3	463	broad.mit.edu	37	16	72991939	72991939	+	Silent	SNP	G	G	C			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr16:72991939G>C	ENST00000268489.5	-	2	2778	c.2106C>G	c.(2104-2106)gtC>gtG	p.V702V	ZFHX3_ENST00000397992.5_Intron	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	702					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				TTTTGCAGTAGACACAGGAGC	0.597													13	164					0	0	1	0	0	C	72991939	G	C	72991939	2	2	352	1	0	0	0	0	0	0	0	1	17692	929	33	4		4	ZFHX3	16	72991939	Silent	SNP	G	TCGA-P5-A5EV-01A-11D-A27K-08	70853824	72991939	17362814	93	31668											
MAF	4094	broad.mit.edu	37	16	79633769	79633769	+	Missense_Mutation	SNP	C	C	G			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr16:79633769C>G	ENST00000393350.1	-	1	842	c.31G>C	c.(31-33)Gac>Cac	p.D11H	MAF_ENST00000326043.4_Missense_Mutation_p.D11H|MAF_ENST00000569649.1_Missense_Mutation_p.D11H	NM_001031804.2	NP_001026974.1	O75444	MAF_HUMAN	v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog	11					transcription from RNA polymerase II promoter	chromatin|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)	10		all_epithelial(2;0.139)|Lung NSC(2;0.186)|Melanoma(2;0.211)		UCEC - Uterine corpus endometrioid carcinoma (2;0.0178)		GTGGGCAGGTCGGAGTTGCTC	0.612			T	IGH@	MM								30	68					0	0	1	0	0	G	79633769	C	G	79633769	3	3	352	1	0	0	0	0	1	0	0	0	9201	884	31	5	1192	5	MAF	16	79633769	Missense_Mutation	SNP	C	TCGA-P5-A5EV-01A-11D-A27K-08	6641830	79633769	10720984	94	31669											
AIPL1	23746	broad.mit.edu	37	17	6331637	6331637	+	Splice_Site	SNP	C	C	T			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr17:6331637C>T	ENST00000381129.3	-	3	546		c.e3+1		AIPL1_ENST00000571740.1_Splice_Site|AIPL1_ENST00000575265.1_Splice_Site|AIPL1_ENST00000250087.5_Intron|AIPL1_ENST00000576776.1_Splice_Site|AIPL1_ENST00000576307.1_Splice_Site|AIPL1_ENST00000570466.1_Splice_Site|AIPL1_ENST00000574506.1_Splice_Site	NM_001033055.1|NM_014336.3	NP_001028227.1|NP_055151.3	Q9NZN9	AIPL1_HUMAN	aryl hydrocarbon receptor interacting protein-like 1						protein farnesylation|protein folding|visual perception	cytoplasm|nucleus	farnesylated protein binding|unfolded protein binding			NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|skin(1)	12				COAD - Colon adenocarcinoma(228;0.141)		CCCAGCCCCACCTGCAGCAGC	0.657													53	19					0	0	1	0	0	T	6331637	C	T	6331637	5	4	352	1	0	0	0	0	0	0	1	0	433	521	18	2	704	2	AIPL1	17	6331637	Splice_Site	SNP	C	TCGA-P5-A5EV-01A-11D-A27K-08		6331637	74863573	95	31670											
TP53	7157	broad.mit.edu	37	17	7577144	7577144	+	Missense_Mutation	SNP	A	A	G			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr17:7577144A>G	ENST00000420246.2	-	8	926	c.794T>C	c.(793-795)cTg>cCg	p.L265P	TP53_ENST00000269305.4_Missense_Mutation_p.L265P|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.L265P|TP53_ENST00000455263.2_Missense_Mutation_p.L265P|TP53_ENST00000359597.4_Missense_Mutation_p.L265P	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	265	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		L -> M (in sporadic cancers; somatic mutation).|L -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|L -> Q (in sporadic cancers; somatic mutation).|L -> R (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.L265P(15)|p.0?(8)|p.L265R(5)|p.?(3)|p.G262_F270delGNLLGRNSF(2)|p.G262_S269delGNLLGRNS(2)|p.N263fs*5(1)|p.L265del(1)|p.L265_K305del41(1)|p.E258fs*71(1)|p.L265_R267delLGR(1)|p.L265Q(1)|p.G262fs*2(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)		GTTCCGTCCCAGTAGATTACC	0.522		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)			27	4					0	0	1	0	0	G	7577144	A	G	7577144	3	3	352	1	0	0	0	0	1	0	0	0	16442	188	7	3	492	3	TP53	17	7577144	Missense_Mutation	SNP	A	TCGA-P5-A5EV-01A-11D-A27K-08	1245507	7577144	73618066	96	31671											
MYH4	4622	broad.mit.edu	37	17	10363541	10363541	+	Frame_Shift_Del	DEL	G	G	-			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr17:10363541delG	ENST00000255381.2	-	13	1355	c.1245delC	c.(1243-1245)accfs	p.T415fs	RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	415	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TCTGGCCTTTGGTTACGAACT	0.428													29	108	---	---	---	---						-	10363541	G	-	10363541	7	5	352	1	0	1	0	1	0	0	0	0	10085	1335	47	0	4686	0	MYH4	17	10363541	Frame_Shift_Del	DEL	G	TCGA-P5-A5EV-01A-11D-A27K-08	2786397	10363541	70831669	97	31672											
IKZF3	22806	broad.mit.edu	37	17	37947817	37947817	+	Silent	SNP	A	A	G			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr17:37947817A>G	ENST00000346872.3	-	5	505	c.444T>C	c.(442-444)tgT>tgC	p.C148C	IKZF3_ENST00000346243.3_Silent_p.C148C|IKZF3_ENST00000439016.2_Intron|IKZF3_ENST00000467757.1_Intron|IKZF3_ENST00000394189.2_Intron|IKZF3_ENST00000350532.3_Silent_p.C148C|IKZF3_ENST00000377958.2_Silent_p.C61C|IKZF3_ENST00000439167.2_Silent_p.C114C|IKZF3_ENST00000535189.1_Silent_p.C114C|IKZF3_ENST00000377945.3_Intron|IKZF3_ENST00000377944.3_Intron|IKZF3_ENST00000351680.3_Silent_p.C148C|IKZF3_ENST00000377952.2_Intron	NM_012481.4	NP_036613.2	Q9UKT9	IKZF3_HUMAN	IKAROS family zinc finger 3 (Aiolos)	148					B cell activation|mesoderm development|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(6)|large_intestine(4)|liver(1)|lung(13)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42	Breast(7;4.5e-103)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			CACACTGATTACACTGGAATG	0.438													4	142					0	0	1	0	0	G	37947817	A	G	37947817	2	3	352	1	0	0	0	0	0	0	0	1	7660	389	14	3		3	IKZF3	17	37947817	Silent	SNP	A	TCGA-P5-A5EV-01A-11D-A27K-08	27584276	37947817	43247393	98	31673											
HOXB5	3215	broad.mit.edu	37	17	46669799	46669799	+	Silent	SNP	C	C	G			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr17:46669799C>G	ENST00000239151.5	-	2	860	c.582G>C	c.(580-582)ggG>ggC	p.G194G	HOXB-AS3_ENST00000480872.1_RNA|HOXB-AS3_ENST00000474040.1_RNA|HOXB-AS3_ENST00000492897.3_RNA|HOXB-AS3_ENST00000467155.2_RNA|HOXB3_ENST00000552000.2_Intron|HOXB-AS3_ENST00000487849.3_RNA|HOXB-AS3_ENST00000465846.2_RNA|HOXB-AS3_ENST00000429755.4_RNA|HOXB-AS3_ENST00000476204.1_RNA	NM_002147.3	NP_002138.1	P09067	HXB5_HUMAN	homeobox B5	194						nucleus	sequence-specific DNA binding			large_intestine(1)|lung(2)	3						GGGCCCTTTTCCCGTCCGGCC	0.632													40	47					0	0	1	0	0	G	46669799	C	G	46669799	2	3	352	1	0	0	0	0	0	0	0	1	7345	842	30	5		5	HOXB5	17	46669799	Silent	SNP	C	TCGA-P5-A5EV-01A-11D-A27K-08	8721982	46669799	34525411	99	31674											
ABCA6	23460	broad.mit.edu	37	17	67111542	67111542	+	Silent	SNP	A	A	G			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr17:67111542A>G	ENST00000284425.2	-	12	1755	c.1581T>C	c.(1579-1581)ctT>ctC	p.L527L		NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	527	ABC transporter 1.				transport	integral to membrane	ATP binding|ATPase activity			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					ACAATCCATTAAGAATATTTA	0.368													40	65					0	0	1	0	0	G	67111542	A	G	67111542	2	3	352	1	0	0	0	0	0	0	0	1	36	349	13	3		3	ABCA6	17	67111542	Silent	SNP	A	TCGA-P5-A5EV-01A-11D-A27K-08	20441743	67111542	14083668	100	31675											
GPRC5C	55890	broad.mit.edu	37	17	72443103	72443103	+	Missense_Mutation	SNP	C	C	T	rs144073326		TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr17:72443103C>T	ENST00000392627.1	+	4	2523	c.1397C>T	c.(1396-1398)gCg>gTg	p.A466V	GPRC5C_ENST00000342648.5_Missense_Mutation_p.A106V|GPRC5C_ENST00000481232.1_3'UTR|GPRC5C_ENST00000582873.1_3'UTR|GPRC5C_ENST00000392629.2_Missense_Mutation_p.A433V	NM_022036.2	NP_071319.2	Q9NQ84	GPC5C_HUMAN	G protein-coupled receptor, family C, group 5, member C	421						cytoplasmic vesicle membrane|integral to plasma membrane	G-protein coupled receptor activity|protein binding			central_nervous_system(1)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	17						AGCCACCAGGCGGCCACACCG	0.637													12	179					0	0	1	0	0	T	72443103	C	T	72443103	3	4	352	1	0	0	0	0	1	0	0	0	6767	768	27	1	1419	1	GPRC5C	17	72443103	Missense_Mutation	SNP	C	TCGA-P5-A5EV-01A-11D-A27K-08	5331561	72443103	8752107	101	31676											
LAMA3	3909	broad.mit.edu	37	18	21438713	21438713	+	Missense_Mutation	SNP	G	G	C			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr18:21438713G>C	ENST00000313654.9	+	34	4583	c.4342G>C	c.(4342-4344)Gcc>Ccc	p.A1448P	LAMA3_ENST00000399516.3_Missense_Mutation_p.A1448P	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	1448	Domain III B.|Laminin EGF-like 12.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TTTGGACCCAGCCAATCTCAA	0.413													4	111					0	0	1	0	0	C	21438713	G	C	21438713	3	2	352	1	0	0	0	0	1	0	0	0	8646	971	34	4	4476	4	LAMA3	18	21438713	Missense_Mutation	SNP	G	TCGA-P5-A5EV-01A-11D-A27K-08		21438713	56638535	102	31677											
MYO5B	4645	broad.mit.edu	37	18	47383224	47383224	+	Silent	SNP	T	T	G			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr18:47383224T>G	ENST00000285039.7	-	30	4280	c.3981A>C	c.(3979-3981)ggA>ggC	p.G1327G	MYO5B_ENST00000324581.6_Intron	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	1327					protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		AGCCGAGTTCTCCATCTTCAT	0.488													23	35					0	0	1	0	0	G	47383224	T	G	47383224	2	3	352	1	0	0	0	0	0	0	0	1	10127	1538	54	5		5	MYO5B	18	47383224	Silent	SNP	T	TCGA-P5-A5EV-01A-11D-A27K-08	25944511	47383224	30694024	103	31678											
SALL3	27164	broad.mit.edu	37	18	76753213	76753213	+	Missense_Mutation	SNP	G	G	C			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr18:76753213G>C	ENST00000536229.3	+	1	1532	c.823G>C	c.(823-825)Gag>Cag	p.E275Q	SALL3_ENST00000575389.2_Missense_Mutation_p.E408Q|SALL3_ENST00000537592.2_Missense_Mutation_p.E408Q			Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	408					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		GTCGGTGTTCGAGCCCAAAGC	0.657													9	20					0	0	1	0	0	C	76753213	G	C	76753213	3	2	352	1	0	0	0	0	1	0	0	0	13864	1059	37	5	1228	5	SALL3	18	76753213	Missense_Mutation	SNP	G	TCGA-P5-A5EV-01A-11D-A27K-08	29369989	76753213	1324035	104	31679											
TXNL4A	10907	broad.mit.edu	37	18	77748273	77748273	+	Missense_Mutation	SNP	C	C	G			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr18:77748273C>G	ENST00000269601.5	-	1	320	c.120G>C	c.(118-120)aaG>aaC	p.K40N	TXNL4A_ENST00000591711.1_Missense_Mutation_p.K40N|TXNL4A_ENST00000585474.1_Intron|TXNL4A_ENST00000588162.1_Missense_Mutation_p.K40N|TXNL4A_ENST00000592957.1_Intron	NM_006701.2	NP_006692.1	P83876	TXN4A_HUMAN	thioredoxin-like 4A	40					cell division|mitosis|spliceosome assembly	nucleoplasm|spliceosomal complex	protein binding			breast(1)|large_intestine(1)|lung(3)	5		all_cancers(4;1.15e-12)|all_epithelial(4;8.61e-09)|all_lung(4;0.00366)|Lung NSC(4;0.00683)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0646)|Melanoma(33;0.2)		OV - Ovarian serous cystadenocarcinoma(15;7.36e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0249)		CCTCGTCCATCTTCATGCACG	0.667													7	18					0	0	1	0	0	G	77748273	C	G	77748273	3	3	352	1	0	0	0	0	1	0	0	0	16867	912	32	4	320	4	TXNL4A	18	77748273	Missense_Mutation	SNP	C	TCGA-P5-A5EV-01A-11D-A27K-08	995060	77748273	328975	105	31680											
MYO1F	4542	broad.mit.edu	37	19	8617006	8617006	+	Missense_Mutation	SNP	C	C	G			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr19:8617006C>G	ENST00000338257.8	-	7	814	c.547G>C	c.(547-549)Gat>Cat	p.D183H		NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN	myosin IF	183	Myosin head-like.					unconventional myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						TTGCCCCCATCTGGCTCCCCA	0.552													78	124					0	0	1	0	0	G	8617006	C	G	8617006	3	3	352	1	0	0	0	0	1	0	0	0	10121	913	32	4	2837	4	MYO1F	19	8617006	Missense_Mutation	SNP	C	TCGA-P5-A5EV-01A-11D-A27K-08		8617006	50511977	106	31681											
MUC16	94025	broad.mit.edu	37	19	9065338	9065338	+	Missense_Mutation	SNP	G	G	C			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr19:9065338G>C	ENST00000397910.4	-	3	22311	c.22108C>G	c.(22108-22110)Ctt>Gtt	p.L7370V		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7372	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTACTCACAAGAGTGGTTATC	0.493													5	50					0	0	1	0	0	C	9065338	G	C	9065338	3	2	352	1	0	0	0	0	1	0	0	0	10021	942	33	4	21743	4	MUC16	19	9065338	Missense_Mutation	SNP	G	TCGA-P5-A5EV-01A-11D-A27K-08	448332	9065338	50063645	107	31682											
MUC16	94025	broad.mit.edu	37	19	9070563	9070563	+	Missense_Mutation	SNP	G	G	C			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr19:9070563G>C	ENST00000397910.4	-	3	17086	c.16883C>G	c.(16882-16884)aCc>aGc	p.T5628S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5630	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CCCAGAGCTGGTTTCTTCCAC	0.537													3	47					0	0	1	0	0	C	9070563	G	C	9070563	3	2	352	1	0	0	0	0	1	0	0	0	10021	1261	44	5	26968	5	MUC16	19	9070563	Missense_Mutation	SNP	G	TCGA-P5-A5EV-01A-11D-A27K-08	5225	9070563	50058420	108	31683											
SIGLEC6	946	broad.mit.edu	37	19	52034681	52034681	+	Missense_Mutation	SNP	G	G	T			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr19:52034681G>T	ENST00000346477.3	-	2	228	c.160C>A	c.(160-162)Ccc>Acc	p.P54T	SIGLEC6_ENST00000343300.4_Missense_Mutation_p.P54T|SIGLEC6_ENST00000359982.4_Missense_Mutation_p.P54T|SIGLEC6_ENST00000436458.1_Intron|SIGLEC6_ENST00000425629.3_Missense_Mutation_p.P54T|SIGLEC6_ENST00000391797.3_Missense_Mutation_p.P54T	NM_198845.4	NP_942142.3	O43699	SIGL6_HUMAN	sialic acid binding Ig-like lectin 6	54	Ig-like V-type.				cell adhesion|cell-cell signaling	cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus				endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1)	28		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)		AGGGTAGTGGGCAATCTGCAG	0.597													32	27					3.99451e-17	4.12678e-17	1	1	0	T	52034681	G	T	52034681	3	4	352	1	0	0	0	0	1	0	0	0	14367	1203	42	5	1262	5	SIGLEC6	19	52034681	Missense_Mutation	SNP	G	TCGA-P5-A5EV-01A-11D-A27K-08	42964118	52034681	7094302	109	31684											
ZNF71	58491	broad.mit.edu	37	19	57133977	57133977	+	Missense_Mutation	SNP	G	G	C			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr19:57133977G>C	ENST00000328070.6	+	3	1556	c.1322G>C	c.(1321-1323)gGc>gCc	p.G441A		NM_021216.4	NP_067039.1	Q9NQZ8	ZNF71_HUMAN	zinc finger protein 71	441						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)		TACAGGTGCGGCCAGTGCGGG	0.647													5	63					0	0	1	0	0	C	57133977	G	C	57133977	3	2	352	1	0	0	0	0	1	0	0	0	18170	1203	42	5	1324	5	ZNF71	19	57133977	Missense_Mutation	SNP	G	TCGA-P5-A5EV-01A-11D-A27K-08	5099296	57133977	1995006	110	31685											
NKX2-2	4821	broad.mit.edu	37	20	21492707	21492707	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr20:21492707C>T	ENST00000377142.4	-	2	1032	c.676G>A	c.(676-678)Gcc>Acc	p.A226T	NKX2-2-AS1_ENST00000549659.1_RNA	NM_002509.3	NP_002500.1	O95096	NKX22_HUMAN	NK2 homeobox 2	226					brain development|positive regulation of sequence-specific DNA binding transcription factor activity	nucleus	chromatin binding|core promoter proximal region DNA binding|transcription coactivator activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						TGGAAGGTGGCGGCTGCCAGG	0.677													4	109					0	0	1	0	0	T	21492707	C	T	21492707	3	4	352	1	0	0	0	0	1	0	0	0	10497	768	27	1	149	1	NKX2-2	20	21492707	Missense_Mutation	SNP	C	TCGA-P5-A5EV-01A-11D-A27K-08		21492707	41532813	111	31686											
ZNFX1	57169	broad.mit.edu	37	20	47887262	47887262	+	Missense_Mutation	SNP	C	C	G			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr20:47887262C>G	ENST00000396105.1	-	3	1333	c.1087G>C	c.(1087-1089)Gac>Cac	p.D363H	ZNFX1_ENST00000371752.1_Missense_Mutation_p.D363H|ZNFX1_ENST00000371754.4_Missense_Mutation_p.D363H	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	363							metal ion binding			cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			GCAGTGCTGTCGTATTTTCCA	0.473													10	166					0	0	1	0	0	G	47887262	C	G	47887262	3	3	352	1	0	0	0	0	1	0	0	0	18247	884	31	5	4717	5	ZNFX1	20	47887262	Missense_Mutation	SNP	C	TCGA-P5-A5EV-01A-11D-A27K-08	26394555	47887262	15138258	112	31687											
IFNAR1	3454	broad.mit.edu	37	21	34713352	34713352	+	Missense_Mutation	SNP	C	C	G			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr21:34713352C>G	ENST00000270139.3	+	3	400	c.248C>G	c.(247-249)aCt>aGt	p.T83S	IFNAR1_ENST00000442357.2_Missense_Mutation_p.T83S|IFNAR1_ENST00000416947.2_Missense_Mutation_p.T14S	NM_000629.2	NP_000620.2	P17181	INAR1_HUMAN	interferon (alpha, beta and omega) receptor 1	83					JAK-STAT cascade|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	integral to plasma membrane	type I interferon receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|skin(2)	14					Interferon Alfa-2a, Recombinant(DB00034)|Interferon Alfa-2b, Recombinant(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1b(DB00068)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)	CAGAATATTACTAGTACCAAA	0.308													3	28					0	0	1	0	0	G	34713352	C	G	34713352	3	3	352	1	0	0	0	0	1	0	0	0	7588	565	20	4	258	4	IFNAR1	21	34713352	Missense_Mutation	SNP	C	TCGA-P5-A5EV-01A-11D-A27K-08		34713352	13416543	113	31688											
SON	6651	broad.mit.edu	37	21	34927038	34927038	+	Missense_Mutation	SNP	A	A	G			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr21:34927038A>G	ENST00000356577.4	+	3	5976	c.5501A>G	c.(5500-5502)cAc>cGc	p.H1834R	SON_ENST00000300278.4_Missense_Mutation_p.H1834R|SON_ENST00000381679.4_Missense_Mutation_p.H1834R|SON_ENST00000381692.2_Intron|SON_ENST00000290239.6_Missense_Mutation_p.H1834R	NM_138927.1	NP_620305	P18583	SON_HUMAN	SON DNA binding protein	1834					anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding			breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						TCTTCTGAACACAAATCACGC	0.423													4	71					0	0	1	0	0	G	34927038	A	G	34927038	3	3	352	1	0	0	0	0	1	0	0	0	14980	159	6	3	5511	3	SON	21	34927038	Missense_Mutation	SNP	A	TCGA-P5-A5EV-01A-11D-A27K-08	213686	34927038	13202857	114	31689											
MCAT	27349	broad.mit.edu	37	22	43529109	43529109	+	Silent	SNP	G	G	A	rs139106285	byFrequency	TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr22:43529109G>A	ENST00000290429.6	-	4	1158	c.1113C>T	c.(1111-1113)gcC>gcT	p.A371A	MCAT_ENST00000327555.5_3'UTR	NM_173467.4	NP_775738.3	Q8IVS2	FABD_HUMAN	malonyl CoA:ACP acyltransferase (mitochondrial)						fatty acid biosynthetic process	mitochondrion	[acyl-carrier-protein] S-malonyltransferase activity|binding			breast(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(1)|urinary_tract(1)	11		Ovarian(80;0.0694)				GCACATCCACGGCGCTGTAGG	0.617													5	240					0	0	1	0	0	A	43529109	G	A	43529109	2	1	352	1	0	0	0	0	0	0	0	1	9422	1103	39	1		1	MCAT	22	43529109	Silent	SNP	G	TCGA-P5-A5EV-01A-11D-A27K-08		43529109	7775457	115	31690											
BRD1	23774	broad.mit.edu	37	22	50217117	50217117	+	Missense_Mutation	SNP	C	C	G			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr22:50217117C>G	ENST00000216267.8	-	1	1335	c.849G>C	c.(847-849)aaG>aaC	p.K283N	BRD1_ENST00000457780.2_Missense_Mutation_p.K283N|BRD1_ENST00000404034.1_Missense_Mutation_p.K283N|BRD1_ENST00000404760.1_Missense_Mutation_p.K283N	NM_014577.1	NP_055392.1	O95696	BRD1_HUMAN	bromodomain containing 1	283					histone H3 acetylation	MOZ/MORF histone acetyltransferase complex	zinc ion binding			endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	37		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)		CGTCATCTGTCTTTTTGAAGG	0.647													8	108					0	0	1	0	0	G	50217117	C	G	50217117	3	3	352	1	0	0	0	0	1	0	0	0	1503	912	32	4	2375	4	BRD1	22	50217117	Missense_Mutation	SNP	C	TCGA-P5-A5EV-01A-11D-A27K-08	6688008	50217117	1087449	116	31691											
PANX2	56666	broad.mit.edu	37	22	50609371	50609371	+	Missense_Mutation	SNP	C	C	G			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr22:50609371C>G	ENST00000395842.2	+	1	212	c.212C>G	c.(211-213)aCc>aGc	p.T71S	PANX2_ENST00000159647.5_Missense_Mutation_p.T71S	NM_052839.3	NP_443071.2	Q96RD6	PANX2_HUMAN	pannexin 2	71					protein hexamerization|synaptic transmission	gap junction|integral to membrane	gap junction hemi-channel activity|ion channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(1)|skin(1)	7		all_cancers(38;1.14e-10)|all_epithelial(38;2.12e-09)|all_lung(38;7.01e-05)|Breast(42;0.000523)|Lung NSC(38;0.0018)|Ovarian(80;0.0365)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.105)		CTGGTCTTCACCAAGAACTTC	0.731													3	10					0	0	1	0	0	G	50609371	C	G	50609371	3	3	352	1	0	0	0	0	1	0	0	0	11468	507	18	5	214	5	PANX2	22	50609371	Missense_Mutation	SNP	C	TCGA-P5-A5EV-01A-11D-A27K-08	392254	50609371	695195	117	31692											
ATRX	546	broad.mit.edu	37	X	76937038	76937038	+	Nonsense_Mutation	SNP	G	G	C			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chrX:76937038G>C	ENST00000373344.5	-	9	3924	c.3710C>G	c.(3709-3711)tCa>tGa	p.S1237*	ATRX_ENST00000395603.3_Nonsense_Mutation_p.S1199*|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1237					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)	TCCAGTATGTGAAGACAGCAC	0.338			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						43	14					0	0	1	0	0	C	76937038	G	C	76937038	4	2	352	1	0	0	0	0	0	1	0	0	1206	1294	45	5	3876	5	ATRX	23	76937038	Nonsense_Mutation	SNP	G	TCGA-P5-A5EV-01A-11D-A27K-08		76937038	78333522	118	31693											
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	ENST00000358024.3	+	2	597	c.208A>G	c.(208-210)Aaa>Gaa	p.K70E	TMCC2_ENST00000545499.1_5'UTR|TMCC2_ENST00000495538.1_3'UTR	NM_014858.3	NP_055673.2	O75069	TMCC2_HUMAN	transmembrane and coiled-coil domain family 2	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	0.557													34	33					0	0	1	0	0	G	205210633	A	G	205210633	5	3	353	1	0	0	0	0	0	0	1	0	16053	260	9	3	214	3	TMCC2	1	205210633	Splice_Site	SNP	A	TCGA-P5-A5EW-01A-11D-A27K-08		205210633	44039988	1	31694											
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	ENST00000318749.6	-	1	543	c.520G>A	c.(520-522)Ggg>Agg	p.G174R		NM_001004492.1	NP_001004492.1	Q5JQS5	OR2BB_HUMAN	olfactory receptor, family 2, subfamily B, member 11	174					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G174R(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	0.597													4	52					0	0	1	0	0	T	247614765	C	T	247614765	3	4	353	1	0	0	0	0	1	0	0	0	11036	652	23	1	436	1	OR2B11	1	247614765	Missense_Mutation	SNP	C	TCGA-P5-A5EW-01A-11D-A27K-08	42404132	247614765	1635856	2	31695											
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	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	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								23	29					0	0	1	0	0	T	209113112	C	T	209113112	3	4	353	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-P5-A5EW-01A-11D-A27K-08		209113112	34086261	3	31696											
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	ENST00000296129.1	-	9	2563	c.2429A>G	c.(2428-2430)cAt>cGt	p.H810R		NM_022842.3	NP_073753.3	Q9H5V8	CDCP1_HUMAN	CUB domain containing protein 1	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	0.552													12	140					0	0	1	0	0	C	45127212	T	C	45127212	3	2	353	1	0	0	0	0	1	0	0	0	3115	1464	51	3	85	3	CDCP1	3	45127212	Missense_Mutation	SNP	T	TCGA-P5-A5EW-01A-11D-A27K-08		45127212	152895218	4	31697											
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	ENST00000319340.2	+	3	975	c.925C>T	c.(925-927)Cgg>Tgg	p.R309W		NM_152889.2	NP_690849.1	Q8NET6	CHSTD_HUMAN	carbohydrate (chondroitin 4) sulfotransferase 13	309					chondroitin sulfate biosynthetic process	Golgi membrane|integral to membrane	chondroitin 4-sulfotransferase activity|N-acetylgalactosamine 4-O-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	0.692													4	13					0	0	1	0	0	T	126261320	C	T	126261320	3	4	353	1	0	0	0	0	1	0	0	0	3423	643	23	1	935	1	CHST13	3	126261320	Missense_Mutation	SNP	C	TCGA-P5-A5EW-01A-11D-A27K-08	81134108	126261320	71761110	5	31698											
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	ENST00000274473.6	+	19	2597	c.2330G>A	c.(2329-2331)cGc>cAc	p.R777H	MEGF10_ENST00000503335.2_Missense_Mutation_p.R777H	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10	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	0.468													4	122					0	0	1	0	0	A	126776527	G	A	126776527	3	1	353	1	0	0	0	0	1	0	0	0	9510	1087	38	1	2396	1	MEGF10	5	126776527	Missense_Mutation	SNP	G	TCGA-P5-A5EW-01A-11D-A27K-08		126776527	54138733	6	31699											
PCDHGA1	56114	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	ENST00000517417.1	+	1	1005	c.1005C>A	c.(1003-1005)atC>atA	p.I335I	PCDHGA1_ENST00000378105.3_Silent_p.I335I	NM_018912.2	NP_061735.1														breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGTACTGATCAAAGTTTTGG	0.418													34	58					3.86903e-22	4.2873e-22	1	1	0	A	140711256	C	A	140711256	2	1	353	1	0	0	0	0	0	0	0	1	11597	816	29	5		5	PCDHGA1	5	140711256	Silent	SNP	C	TCGA-P5-A5EW-01A-11D-A27K-08	13934729	140711256	40204004	7	31700											
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	ENST00000518525.1	+	10	1308	c.844G>A	c.(844-846)Gtg>Atg	p.V282M	GABRP_ENST00000519598.1_Missense_Mutation_p.V282M|GABRP_ENST00000265294.4_Missense_Mutation_p.V282M|GABRP_ENST00000519385.1_Intron			O00591	GBRP_HUMAN	gamma-aminobutyric acid (GABA) A receptor, pi	282						cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor 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	0.517											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	A	170236583	G	A	170236583	3	1	353	1	0	0	0	0	1	0	0	0	6209	1145	40	1	874	1	GABRP	5	170236583	Missense_Mutation	SNP	G	TCGA-P5-A5EW-01A-11D-A27K-08	29525327	170236583	10678677	8	31701											
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	ENST00000275016.2	-	12	1573	c.1370C>T	c.(1369-1371)cCg>cTg	p.P457L		NM_016593.3	NP_057677.2	Q9NYL5	CP39A_HUMAN	cytochrome P450, family 39, subfamily A, polypeptide 1	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	0.458													18	38					0	0	1	0	0	A	46518143	G	A	46518143	3	1	353	1	0	0	0	0	1	0	0	0	4200	1116	39	1	43	1	CYP39A1	6	46518143	Missense_Mutation	SNP	G	TCGA-P5-A5EW-01A-11D-A27K-08		46518143	124596924	9	31702											
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	ENST00000331890.5	-	7	1117	c.1053C>T	c.(1051-1053)ccC>ccT	p.P351P	FBXL6_ENST00000455319.2_Silent_p.P345P|FBXL6_ENST00000526524.1_5'UTR	NM_012162.2	NP_036294.2	Q8N531	FBXL6_HUMAN	F-box and leucine-rich repeat protein 6	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	0.652													59	58					0	0	1	0	0	A	145580132	G	A	145580132	2	1	353	1	0	0	0	0	0	0	0	1	5756	1103	39	1		1	FBXL6	8	145580132	Silent	SNP	G	TCGA-P5-A5EW-01A-11D-A27K-08		145580132	783890	10	31703											
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	ENST00000407242.2	-	3	1869	c.1627C>T	c.(1627-1629)Ctg>Ttg	p.L543L	LRRC32_ENST00000260061.5_Silent_p.L543L|AP001189.4_ENST00000447519.1_RNA|LRRC32_ENST00000404995.1_Silent_p.L543L|LRRC32_ENST00000464145.1_Intron	NM_005512.2	NP_005503.1	Q14392	LRC32_HUMAN	leucine rich repeat containing 32	543						integral to plasma membrane				endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1)	31						TTGTTTCGCAGGTCCAGCACC	0.637													14	66					0	0	1	0	0	A	76371010	G	A	76371010	2	1	353	1	0	0	0	0	0	0	0	1	9032	991	35	2		2	LRRC32	11	76371010	Silent	SNP	G	TCGA-P5-A5EW-01A-11D-A27K-08		76371010	58635506	11	31704											
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	ENST00000303562.4	+	4	901	c.692C>T	c.(691-693)gCc>gTc	p.A231V	FOS_ENST00000555347.1_Missense_Mutation_p.A83V|FOS_ENST00000555686.1_Missense_Mutation_p.A117V|FOS_ENST00000535987.1_Missense_Mutation_p.A195V	NM_005252.3	NP_005243.1	P01100	FOS_HUMAN	FBJ murine osteosarcoma viral oncogene homolog	231					cellular response to reactive oxygen species|DNA methylation|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|regulation of sequence-specific DNA binding transcription factor activity|SMAD protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|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		protein dimerization activity|R-SMAD binding|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	0.607													4	153					0	0	1	0	0	T	75747676	C	T	75747676	3	4	353	1	0	0	0	0	1	0	0	0	6018	739	26	2	706	2	FOS	14	75747676	Missense_Mutation	SNP	C	TCGA-P5-A5EW-01A-11D-A27K-08		75747676	31601864	12	31705											
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	ENST00000307144.4	+	1	751	c.653G>A	c.(652-654)cGt>cAt	p.R218H	MYO1E_ENST00000288235.4_Intron	NM_033195.2	NP_149972.1	Q9BYZ2	LDH6B_HUMAN	lactate dehydrogenase A-like 6B	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	0.438													5	124					0	0	1	0	0	A	59499792	G	A	59499792	3	1	353	1	0	0	0	0	1	0	0	0	8739	1145	40	1	655	1	LDHAL6B	15	59499792	Missense_Mutation	SNP	G	TCGA-P5-A5EW-01A-11D-A27K-08		59499792	43031600	13	31706											
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	ENST00000563290.1	-	8	736	c.641G>A	c.(640-642)cGt>cAt	p.R214H	SCAPER_ENST00000324767.7_Missense_Mutation_p.R214H|SCAPER_ENST00000562890.1_5'UTR|SCAPER_ENST00000538941.2_5'UTR			Q9BY12	SCAPE_HUMAN	S-phase cyclin A-associated protein in the ER	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	0.418													4	58					0	0	1	0	0	T	77087752	C	T	77087752	3	4	353	1	0	0	0	0	1	0	0	0	13931	536	19	1	3699	1	SCAPER	15	77087752	Missense_Mutation	SNP	C	TCGA-P5-A5EW-01A-11D-A27K-08	17587960	77087752	25443640	14	31707											
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	ENST00000420246.2	-	8	950	c.818G>A	c.(817-819)cGt>cAt	p.R273H	TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.R273H|TP53_ENST00000269305.4_Missense_Mutation_p.R273H|TP53_ENST00000359597.4_Missense_Mutation_p.R273H|TP53_ENST00000455263.2_Missense_Mutation_p.R273H	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	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).		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.R273H(521)|p.R273L(93)|p.R273P(32)|p.0?(8)|p.?(2)|p.R273fs*32(2)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273S(1)|p.E258fs*71(1)|p.R273fs*72(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.R273fs*33(1)|p.E271_R273delEVR(1)|p.V272_K292del21(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	0.542	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	T	7577120	C	T	7577120	3	4	353	1	0	0	0	0	1	0	0	0	16442	536	19	1	468	1	TP53	17	7577120	Missense_Mutation	SNP	C	TCGA-P5-A5EW-01A-11D-A27K-08		7577120	73618090	15	31708											
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	ENST00000263094.6	+	34	4882	c.4651G>A	c.(4651-4653)Gcc>Acc	p.A1551T	ABCA7_ENST00000435683.2_Missense_Mutation_p.A1413T|ABCA7_ENST00000433129.1_Missense_Mutation_p.A1551T	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	1551					phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity			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	0.592													4	144					0	0	1	0	0	A	1056970	G	A	1056970	3	1	353	1	0	0	0	0	1	0	0	0	37	1203	42	2	4781	2	ABCA7	19	1056970	Missense_Mutation	SNP	G	TCGA-P5-A5EW-01A-11D-A27K-08		1056970	58072013	16	31709											
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	ENST00000245817.3	+	1	140_142	c.102_104delGCT	c.(100-105)gggctg>ggg	p.L41del		NM_003811.3	NP_003802.1	P41273	TNFL9_HUMAN	tumor necrosis factor (ligand) superfamily, member 9	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	---	---	---	---						-	6531151	GCT	-	6531149	7	5	353	1	0	1	0	1	0	0	0	0	16372	1190	42	0	104	0	TNFSF9	19	6531149	In_Frame_Del	DEL	GCT	TCGA-P5-A5EW-01A-11D-A27K-08	5474179	6531149	52597834	17	31710											
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	ENST00000312962.6	-	13	1246	c.1227C>T	c.(1225-1227)gaC>gaT	p.D409D	KRI1_ENST00000361821.5_Silent_p.D405D	NM_023008.3	NP_075384.3	Q8N9T8	KRI1_HUMAN	KRI1 homolog (S. cerevisiae)	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	0.602													20	66					0	0	1	0	0	A	10668901	G	A	10668901	2	1	353	1	0	0	0	0	0	0	0	1	8487	1136	40	1		1	KRI1	19	10668901	Silent	SNP	G	TCGA-P5-A5EW-01A-11D-A27K-08	4137752	10668901	48460082	18	31711											
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	ENST00000292574.3	+	7	1353	c.1271G>T	c.(1270-1272)tGc>tTc	p.C424F		NM_173482.2	NP_775753.2	Q8IYK2	CC105_HUMAN	coiled-coil domain containing 105	424					microtubule cytoskeleton organization	microtubule				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(4)|skin(2)	23						AAGCTGCAGTGCCACATCACG	0.617													9	14					3.09899e-07	3.25791e-07	1	1	0	T	15133702	G	T	15133702	3	4	353	1	0	0	0	0	1	0	0	0	2758	1319	46	5	1297	5	CCDC105	19	15133702	Missense_Mutation	SNP	G	TCGA-P5-A5EW-01A-11D-A27K-08	4464801	15133702	43995281	19	31712											
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	ENST00000407800.2	+	2	436	c.95C>T	c.(94-96)aCc>aTc	p.T32I	SARS2_ENST00000448145.2_Intron|MRPS12_ENST00000402029.3_Missense_Mutation_p.T32I|MRPS12_ENST00000308018.4_Missense_Mutation_p.T32I|CTC-360G5.8_ENST00000599996.1_Intron	NM_021107.1	NP_066930.1	O15235	RT12_HUMAN	mitochondrial ribosomal protein S12	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	0.652													6	193					0	0	1	0	0	T	39423018	C	T	39423018	3	4	353	1	0	0	0	0	1	0	0	0	9872	507	18	2	101	2	MRPS12	19	39423018	Missense_Mutation	SNP	C	TCGA-P5-A5EW-01A-11D-A27K-08	24289316	39423018	19705965	20	31713											
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	ENST00000255136.3	+	8	1250	c.1168C>T	c.(1168-1170)Cgg>Tgg	p.R390W	PABPC1L_ENST00000537323.1_3'UTR|PABPC1L_ENST00000217073.2_Missense_Mutation_p.R390W|PABPC1L_ENST00000490798.1_3'UTR|PABPC1L_ENST00000217074.4_3'UTR	NM_001124756.1	NP_001118228.1	Q4VXU2	PAP1L_HUMAN	poly(A) binding protein, cytoplasmic 1-like	390							nucleotide binding|RNA binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	20						CTCCACCATGCGGACCCTGAG	0.647													8	389					0	0	1	0	0	T	43559296	C	T	43559296	3	4	353	1	0	0	0	0	1	0	0	0	11411	759	27	1	1198	1	PABPC1L	20	43559296	Missense_Mutation	SNP	C	TCGA-P5-A5EW-01A-11D-A27K-08		43559296	19466224	21	31714											
BAGE2	85319	broad.mit.edu	37	21	11058322	11058322	+	RNA	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	ENST00000470054.1	-	0	325									B melanoma antigen family, member 2															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	0.383													8	144					0	0	1	0	0	T	11058322	C	T	11058322	1	4	353	0	1	0	0	0	0	0	0	0	1290	898	31	1		1	BAGE2	21	11058322	RNA	SNP	C	TCGA-P5-A5EW-01A-11D-A27K-08		11058322	37071573	22	31715											
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	ENST00000376006.3	+	2	427	c.207G>A	c.(205-207)gaG>gaA	p.E69E	NUDT10_ENST00000356450.2_Silent_p.E69E	NM_153183.2	NP_694853.1	Q8NFP7	NUD10_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 10	69	Nudix hydrolase.					cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding	p.E69E(8)		cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(1)|prostate(3)|upper_aerodigestive_tract(1)	16	Ovarian(276;0.236)					TGTACGAAGAGGCGGGAGTCA	0.657													3	46					0	0	1	0	0	A	51076024	G	A	51076024	2	1	353	1	0	0	0	0	0	0	0	1	10774	991	35	2		2	NUDT10	23	51076024	Silent	SNP	G	TCGA-P5-A5EW-01A-11D-A27K-08		51076024	104194536	23	31716											
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	ENST00000355520.5	-	14	1780		c.e14-2		OPHN1_ENST00000540071.1_Splice_Site	NM_002547.2	NP_002538.1	O60890	OPHN1_HUMAN	oligophrenin 1						axon guidance|endocytosis|filopodium assembly|small GTPase mediated signal transduction|substrate-dependent cell migration, cell extension	axon|cell junction|cytosol|dendritic spine|synapse	cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|skin(2)	31						TTAGCTCCACTGTTTCAAGCA	0.408													14	32					0	0	1	0	0	C	67413796	T	C	67413796	5	2	353	1	0	0	0	0	0	0	1	0	10923	1594	55	3	1315	3	OPHN1	23	67413796	Splice_Site	SNP	T	TCGA-P5-A5EW-01A-11D-A27K-08	16337772	67413796	87856764	24	31717											
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	ENST00000253577.3	-	9	1117	c.1093G>T	c.(1093-1095)Gag>Tag	p.E365*	ABCB7_ENST00000534570.1_5'UTR|ABCB7_ENST00000339447.4_Nonsense_Mutation_p.E324*|ABCB7_ENST00000373394.3_Nonsense_Mutation_p.E364*	NM_001271696.1|NM_004299.3	NP_001258625.1|NP_004290.2	O75027	ABCB7_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 7	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	0.333													23	38					1.50039e-11	1.61884e-11	1	1	0	A	74291461	C	A	74291461	4	1	353	1	0	0	0	0	0	1	0	0	46	835	29	5	1200	5	ABCB7	23	74291461	Nonsense_Mutation	SNP	C	TCGA-P5-A5EW-01A-11D-A27K-08	6877665	74291461	80979099	25	31718											
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	ENST00000373344.5	-	9	1200_1204	c.986_990delAGAAA	c.(985-990)aagaaafs	p.KK329fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.KK291fs	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	329					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)	AATCATCTAATTTCTTTTCTTCTCC	0.341			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						23	38	---	---	---	---						-	76939762	TTTCT	-	76939758	7	5	353	1	0	1	0	1	0	0	0	0	1206	1490	52	0	6596	0	ATRX	23	76939758	Frame_Shift_Del	DEL	TTTCT	TCGA-P5-A5EW-01A-11D-A27K-08	2648297	76939758	78330802	26	31719											
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	ENST00000304778.7	+	3	1219	c.1056C>A	c.(1054-1056)gaC>gaA	p.D352E	LONRF3_ENST00000422289.2_Missense_Mutation_p.D137E|LONRF3_ENST00000472173.1_3'UTR|LONRF3_ENST00000371628.3_Missense_Mutation_p.D393E	NM_024778.4	NP_079054.3	Q496Y0	LONF3_HUMAN	LON peptidase N-terminal domain and ring finger 3	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	0.507													4	51					0.150653	0.150653	1	1	0	A	118123490	C	A	118123490	3	1	353	1	0	0	0	0	1	0	0	0	8941	506	18	5	1193	5	LONRF3	23	118123490	Missense_Mutation	SNP	C	TCGA-P5-A5EW-01A-11D-A27K-08	41183732	118123490	37147070	27	31720											
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	ENST00000329342.5	+	3	926	c.701delG	c.(700-702)aggfs	p.R234fs		NM_005363.2	NP_005354.1	P43360	MAGA6_HUMAN	melanoma antigen family A, 6	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	---	---	---	---						-	151870011	G	-	151870011	7	5	353	1	0	1	0	1	0	0	0	0	9218	1000	35	0	703	0	MAGEA6	23	151870011	Frame_Shift_Del	DEL	G	TCGA-P5-A5EW-01A-11D-A27K-08	33746521	151870011	3400549	28	31721											
KCND3	3752	broad.mit.edu	37	1	112524444	112524445	+	Frame_Shift_Ins	INS	-	-	G			TCGA-P5-A5EX-01A-12D-A289-08	TCGA-P5-A5EX-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42140289-18f9-445b-9f13-4f62850e9d4c	469cfe62-ab1f-4fc4-b38e-bd8c8c9bc1b1	g.chr1:112524444_112524445insG	ENST00000369697.1	-	1	973_974	c.904_905insC	c.(904-906)cgcfs	p.R302fs	KCND3_ENST00000302127.4_Frame_Shift_Ins_p.R302fs|KCND3_ENST00000315987.2_Frame_Shift_Ins_p.R302fs			Q9UK17	KCND3_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 3	302						sarcolemma|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	49		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)		CTGGGAGTGGCGGGAAAACTTG	0.579													9	69	---	---	---	---						G	112524445	-	G	112524444	7	5	354	1	0	1	1	0	0	0	0	0	8064	768	27	0	1090	0	KCND3	1	112524444	Frame_Shift_Ins	INS	-	TCGA-P5-A5EX-01A-12D-A289-08		112524444	136726177	1	31722											
ZC3H6	376940	broad.mit.edu	37	2	113089666	113089666	+	Silent	SNP	A	A	G			TCGA-P5-A5EX-01A-12D-A289-08	TCGA-P5-A5EX-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42140289-18f9-445b-9f13-4f62850e9d4c	469cfe62-ab1f-4fc4-b38e-bd8c8c9bc1b1	g.chr2:113089666A>G	ENST00000409871.1	+	12	3572	c.3171A>G	c.(3169-3171)tcA>tcG	p.S1057S	ZC3H6_ENST00000343936.4_Silent_p.S1057S	NM_198581.2	NP_940983.2	P61129	ZC3H6_HUMAN	zinc finger CCCH-type containing 6	1057							nucleic acid binding|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(4)|prostate(2)	35						ACGGTTCATCATCCACATCAG	0.443													16	23					0	0	1	0	0	G	113089666	A	G	113089666	2	3	354	1	0	0	0	0	0	0	0	1	17630	204	8	3		3	ZC3H6	2	113089666	Silent	SNP	A	TCGA-P5-A5EX-01A-12D-A289-08		113089666	130109707	2	31723											
TTN	7273	broad.mit.edu	37	2	179410161	179410161	+	Silent	SNP	A	A	G			TCGA-P5-A5EX-01A-12D-A289-08	TCGA-P5-A5EX-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42140289-18f9-445b-9f13-4f62850e9d4c	469cfe62-ab1f-4fc4-b38e-bd8c8c9bc1b1	g.chr2:179410161A>G	ENST00000589042.1	-	344	95900	c.95676T>C	c.(95674-95676)agT>agC	p.S31892S	TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Silent_p.S23019S|TTN_ENST00000591111.1_Silent_p.S30251S|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342992.6_Silent_p.S29324S|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Silent_p.S22952S|TTN_ENST00000460472.2_Silent_p.S22827S|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	30251	Ig-like 141.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CGCTGGGCTCACTGTTACCAG	0.468													50	90					0	0	1	0	0	G	179410161	A	G	179410161	2	3	354	1	0	0	0	0	0	0	0	1	16797	156	6	3		3	TTN	2	179410161	Silent	SNP	A	TCGA-P5-A5EX-01A-12D-A289-08	66320495	179410161	63789212	3	31724											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-P5-A5EX-01A-12D-A289-08	TCGA-P5-A5EX-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42140289-18f9-445b-9f13-4f62850e9d4c	469cfe62-ab1f-4fc4-b38e-bd8c8c9bc1b1	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	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								15	48					0	0	1	0	0	T	209113112	C	T	209113112	3	4	354	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-P5-A5EX-01A-12D-A289-08	29702951	209113112	34086261	4	31725											
CLDN11	5010	broad.mit.edu	37	3	170141061	170141061	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A5EX-01A-12D-A289-08	TCGA-P5-A5EX-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42140289-18f9-445b-9f13-4f62850e9d4c	469cfe62-ab1f-4fc4-b38e-bd8c8c9bc1b1	g.chr3:170141061G>A	ENST00000064724.3	+	2	539	c.337G>A	c.(337-339)Ggt>Agt	p.G113S	CLDN11_ENST00000486975.1_Missense_Mutation_p.G113S|CLDN11_ENST00000451576.1_Missense_Mutation_p.G113S|CLDN11_ENST00000489485.1_3'UTR	NM_005602.5	NP_005593.2	O75508	CLD11_HUMAN	claudin 11	113					calcium-independent cell-cell adhesion	integral to membrane|tight junction	identical protein binding|structural molecule activity			central_nervous_system(2)|endometrium(2)|large_intestine(1)|liver(2)|lung(3)|ovary(2)	12	all_cancers(22;5.62e-23)|all_epithelial(15;7.54e-28)|all_lung(20;2.51e-17)|Lung NSC(18;1.02e-16)|Ovarian(172;0.000567)|Breast(254;0.137)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)			CCAGGAGCCCGGTGTGGCTAA	0.602													52	106					0	0	1	0	0	A	170141061	G	A	170141061	3	1	354	1	0	0	0	0	1	0	0	0	3496	1116	39	1	343	1	CLDN11	3	170141061	Missense_Mutation	SNP	G	TCGA-P5-A5EX-01A-12D-A289-08		170141061	27881369	5	31726											
HTT	3064	broad.mit.edu	37	4	3076604	3076609	+	In_Frame_Del	DEL	CAGCAG	CAGCAG	-	rs71180116		TCGA-P5-A5EX-01A-12D-A289-08	TCGA-P5-A5EX-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42140289-18f9-445b-9f13-4f62850e9d4c	469cfe62-ab1f-4fc4-b38e-bd8c8c9bc1b1	g.chr4:3076604_3076609delCAGCAG	ENST00000355072.5	+	1	197_202	c.52_57delCAGCAG	c.(52-57)cagcagdel	p.QQ36del		NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin	36	Poly-Gln.				establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		CAAGTCCTTCcagcagcagcagcagc	0.704													3	3	---	---	---	---						-	3076609	CAGCAG	-	3076604	7	5	354	1	0	1	0	1	0	0	0	0	7501	595	21	0	54	0	HTT	4	3076604	In_Frame_Del	DEL	CAGCAG	TCGA-P5-A5EX-01A-12D-A289-08		3076604	188077672	6	31727											
RREB1	6239	broad.mit.edu	37	6	7229901	7229901	+	Silent	SNP	G	G	C			TCGA-P5-A5EX-01A-12D-A289-08	TCGA-P5-A5EX-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42140289-18f9-445b-9f13-4f62850e9d4c	469cfe62-ab1f-4fc4-b38e-bd8c8c9bc1b1	g.chr6:7229901G>C	ENST00000379938.2	+	10	2106	c.1569G>C	c.(1567-1569)acG>acC	p.T523T	RREB1_ENST00000334984.6_Silent_p.T523T|RREB1_ENST00000379933.3_Silent_p.T523T|RREB1_ENST00000349384.6_Silent_p.T523T	NM_001003699.3|NM_001003700.1	NP_001003699.1|NP_001003700.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	523	Pro-rich.				multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				CCACCTCCACGCCCCCGCCTC	0.687													9	119					0	0	1	0	0	C	7229901	G	C	7229901	2	2	354	1	0	0	0	0	0	0	0	1	13731	1074	38	5		5	RREB1	6	7229901	Silent	SNP	G	TCGA-P5-A5EX-01A-12D-A289-08		7229901	163885166	7	31728											
NMBR	4829	broad.mit.edu	37	6	142397180	142397180	+	Missense_Mutation	SNP	T	T	A			TCGA-P5-A5EX-01A-12D-A289-08	TCGA-P5-A5EX-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42140289-18f9-445b-9f13-4f62850e9d4c	469cfe62-ab1f-4fc4-b38e-bd8c8c9bc1b1	g.chr6:142397180T>A	ENST00000258042.1	-	3	918	c.778A>T	c.(778-780)Aca>Tca	p.T260S		NM_002511.2	NP_002502.2	P28336	NMBR_HUMAN	neuromedin B receptor	260					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	cytoplasm|integral to plasma membrane	bombesin receptor activity			breast(2)|central_nervous_system(3)|endometrium(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23	Breast(32;0.155)			OV - Ovarian serous cystadenocarcinoma(155;9.93e-06)|GBM - Glioblastoma multiforme(68;0.0013)		CGTTTCCGTGTTTCCATCTGC	0.388													25	51					0	0	1	0	0	A	142397180	T	A	142397180	3	1	354	1	0	0	0	0	1	0	0	0	10534	1725	60	5	398	5	NMBR	6	142397180	Missense_Mutation	SNP	T	TCGA-P5-A5EX-01A-12D-A289-08	135167279	142397180	28717887	8	31729											
WIPI2	26100	broad.mit.edu	37	7	5256804	5256804	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A5EX-01A-12D-A289-08	TCGA-P5-A5EX-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42140289-18f9-445b-9f13-4f62850e9d4c	469cfe62-ab1f-4fc4-b38e-bd8c8c9bc1b1	g.chr7:5256804G>A	ENST00000288828.4	+	6	794	c.562G>A	c.(562-564)Gat>Aat	p.D188N	WIPI2_ENST00000401525.3_Missense_Mutation_p.D170N|WIPI2_ENST00000404704.3_Missense_Mutation_p.D188N|WIPI2_ENST00000382384.2_Missense_Mutation_p.D170N|WIPI2_ENST00000484262.1_Missense_Mutation_p.D129N	NM_001033518.1|NM_001278299.1|NM_015610.3	NP_001028690.1|NP_001265228.1|NP_056425.1	Q9Y4P8	WIPI2_HUMAN	WD repeat domain, phosphoinositide interacting 2	188					autophagic vacuole assembly	cytosol|PAS complex|pre-autophagosomal structure membrane	phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)	16		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0925)|OV - Ovarian serous cystadenocarcinoma(56;2.59e-14)		GCAGGTCTTCGATACCATTAA	0.527													17	34					0	0	1	0	0	A	5256804	G	A	5256804	3	1	354	1	0	0	0	0	1	0	0	0	17431	1058	37	1	618	1	WIPI2	7	5256804	Missense_Mutation	SNP	G	TCGA-P5-A5EX-01A-12D-A289-08		5256804	153881859	9	31730											
CROT	54677	broad.mit.edu	37	7	87005181	87005181	+	Missense_Mutation	SNP	T	T	C			TCGA-P5-A5EX-01A-12D-A289-08	TCGA-P5-A5EX-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42140289-18f9-445b-9f13-4f62850e9d4c	469cfe62-ab1f-4fc4-b38e-bd8c8c9bc1b1	g.chr7:87005181T>C	ENST00000331536.3	+	9	973	c.788T>C	c.(787-789)tTg>tCg	p.L263S	CROT_ENST00000419147.2_Missense_Mutation_p.L291S|CROT_ENST00000442291.1_Missense_Mutation_p.L263S	NM_021151.3	NP_066974.2	Q9UKG9	OCTC_HUMAN	carnitine O-octanoyltransferase	263					fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|transport	peroxisomal matrix	carnitine O-octanoyltransferase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				L-Carnitine(DB00583)	CCAGAGAACTTGGCTTTGTTA	0.368													11	39					0	0	1	0	0	C	87005181	T	C	87005181	3	2	354	1	0	0	0	0	1	0	0	0	3917	1821	63	3	902	3	CROT	7	87005181	Missense_Mutation	SNP	T	TCGA-P5-A5EX-01A-12D-A289-08	81748377	87005181	72133482	10	31731											
FOXP2	93986	broad.mit.edu	37	7	114294061	114294061	+	Missense_Mutation	SNP	A	A	T			TCGA-P5-A5EX-01A-12D-A289-08	TCGA-P5-A5EX-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42140289-18f9-445b-9f13-4f62850e9d4c	469cfe62-ab1f-4fc4-b38e-bd8c8c9bc1b1	g.chr7:114294061A>T	ENST00000393500.3	+	16	1858	c.1038A>T	c.(1036-1038)aaA>aaT	p.K346N	FOXP2_ENST00000393489.3_Missense_Mutation_p.K329N|FOXP2_ENST00000393491.3_Missense_Mutation_p.K329N|FOXP2_ENST00000390668.3_Missense_Mutation_p.K445N|FOXP2_ENST00000350908.4_Missense_Mutation_p.K421N|FOXP2_ENST00000393498.2_Missense_Mutation_p.K400N|FOXP2_ENST00000408937.3_Missense_Mutation_p.K446N|FOXP2_ENST00000360232.4_Missense_Mutation_p.K421N|FOXP2_ENST00000393494.2_Missense_Mutation_p.K421N|FOXP2_ENST00000403559.4_Missense_Mutation_p.K438N			O15409	FOXP2_HUMAN	forkhead box P2	421					camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding			breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						CATCTCCCAAACCtgtaagtg	0.393													29	73					0	0	1	0	0	T	114294061	A	T	114294061	3	4	354	1	0	0	0	0	1	0	0	0	6061	40	2	5	1431	5	FOXP2	7	114294061	Missense_Mutation	SNP	A	TCGA-P5-A5EX-01A-12D-A289-08	27288880	114294061	44844602	11	31732											
KEL	3792	broad.mit.edu	37	7	142638440	142638440	+	Nonsense_Mutation	SNP	G	G	A			TCGA-P5-A5EX-01A-12D-A289-08	TCGA-P5-A5EX-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42140289-18f9-445b-9f13-4f62850e9d4c	469cfe62-ab1f-4fc4-b38e-bd8c8c9bc1b1	g.chr7:142638440G>A	ENST00000355265.2	-	19	2572	c.2098C>T	c.(2098-2100)Cga>Tga	p.R700*		NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	700					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)					CCGTGGACTCGGAGGTGTGGA	0.622													57	133					0	0	1	0	0	A	142638440	G	A	142638440	4	1	354	1	0	0	0	0	0	1	0	0	8185	1124	39	1	104	1	KEL	7	142638440	Nonsense_Mutation	SNP	G	TCGA-P5-A5EX-01A-12D-A289-08	28344379	142638440	16500223	12	31733											
KIAA1429	25962	broad.mit.edu	37	8	95541443	95541445	+	In_Frame_Del	DEL	TTG	TTG	-			TCGA-P5-A5EX-01A-12D-A289-08	TCGA-P5-A5EX-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42140289-18f9-445b-9f13-4f62850e9d4c	469cfe62-ab1f-4fc4-b38e-bd8c8c9bc1b1	g.chr8:95541443_95541445delTTG	ENST00000297591.5	-	7	808_810	c.733_735delCAA	c.(733-735)caadel	p.Q245del	KIAA1429_ENST00000421249.2_In_Frame_Del_p.Q245del|KIAA1429_ENST00000437199.1_In_Frame_Del_p.Q245del	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	245	Glu-rich.				mRNA processing|RNA splicing	nucleus				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			ctccttcttcttgttgttcctct	0.438													10	28	---	---	---	---						-	95541445	TTG	-	95541443	7	5	354	1	0	1	0	1	0	0	0	0	8273	1606	56	0	4829	0	KIAA1429	8	95541443	In_Frame_Del	DEL	TTG	TCGA-P5-A5EX-01A-12D-A289-08		95541443	50822579	13	31734											
BARX1	56033	broad.mit.edu	37	9	96714489	96714489	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A5EX-01A-12D-A289-08	TCGA-P5-A5EX-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42140289-18f9-445b-9f13-4f62850e9d4c	469cfe62-ab1f-4fc4-b38e-bd8c8c9bc1b1	g.chr9:96714489G>A	ENST00000253968.6	-	4	947	c.722C>T	c.(721-723)gCg>gTg	p.A241V	BARX1_ENST00000401724.1_Missense_Mutation_p.A87V	NM_021570.3	NP_067545.3	Q9HBU1	BARX1_HUMAN	BARX homeobox 1	241						nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)	1						CGGCACCTCCGCCGGTTTCTC	0.682													15	28					0	0	1	0	0	A	96714489	G	A	96714489	3	1	354	1	0	0	0	0	1	0	0	0	1313	1087	38	1	46	1	BARX1	9	96714489	Missense_Mutation	SNP	G	TCGA-P5-A5EX-01A-12D-A289-08		96714489	44498942	14	31735											
NUP98	4928	broad.mit.edu	37	11	3697451	3697451	+	Missense_Mutation	SNP	T	T	C			TCGA-P5-A5EX-01A-12D-A289-08	TCGA-P5-A5EX-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42140289-18f9-445b-9f13-4f62850e9d4c	469cfe62-ab1f-4fc4-b38e-bd8c8c9bc1b1	g.chr11:3697451T>C	ENST00000324932.7	-	33	5761	c.5341A>G	c.(5341-5343)Atg>Gtg	p.M1781V	NUP98_ENST00000359171.4_3'UTR|NUP98_ENST00000355260.3_Missense_Mutation_p.M1707V	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN	nucleoporin 98kDa	1798					carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex	protein binding|structural constituent of nuclear pore|transporter activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		AGTTCGTCCATGGCATAGTCC	0.582			T	"HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"	AML								11	124					0	0	1	0	0	C	3697451	T	C	3697451	3	2	354	1	0	0	0	0	1	0	0	0	10821	1464	51	3	65	3	NUP98	11	3697451	Missense_Mutation	SNP	T	TCGA-P5-A5EX-01A-12D-A289-08		3697451	131309065	15	31736											
CREBZF	58487	broad.mit.edu	37	11	85375242	85375244	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-P5-A5EX-01A-12D-A289-08	TCGA-P5-A5EX-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42140289-18f9-445b-9f13-4f62850e9d4c	469cfe62-ab1f-4fc4-b38e-bd8c8c9bc1b1	g.chr11:85375242_85375244delCTT	ENST00000527447.1	-	1	902_904	c.676_678delAAG	c.(676-678)aagdel	p.K226del	CREBZF_ENST00000398294.2_In_Frame_Del_p.K144del|CREBZF_ENST00000531515.1_Intron|CREBZF_ENST00000534224.1_Intron	NM_001039618.2	NP_001034707.1	Q9NS37	ZHANG_HUMAN	CREB/ATF bZIP transcription factor	226					negative regulation of gene expression, epigenetic|negative regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|response to virus	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.K226delK(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	9		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)				TCACGTACTCCTTCTTCTTCAGT	0.665											OREG0021274	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	23	254	---	---	---	---						-	85375244	CTT	-	85375242	7	5	354	1	0	1	0	1	0	0	0	0	3886	680	24	0	390	0	CREBZF	11	85375242	In_Frame_Del	DEL	CTT	TCGA-P5-A5EX-01A-12D-A289-08	81677791	85375242	49631274	16	31737											
FBXL3	26224	broad.mit.edu	37	13	77581815	77581815	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A5EX-01A-12D-A289-08	TCGA-P5-A5EX-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42140289-18f9-445b-9f13-4f62850e9d4c	469cfe62-ab1f-4fc4-b38e-bd8c8c9bc1b1	g.chr13:77581815C>T	ENST00000355619.5	-	5	1076	c.752G>A	c.(751-753)cGa>cAa	p.R251Q	FBXL3_ENST00000477982.1_Intron	NM_012158.2	NP_036290.1	Q9UKT7	FBXL3_HUMAN	F-box and leucine-rich repeat protein 3	251					regulation of circadian rhythm|rhythmic process|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|SCF ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|urinary_tract(1)	16		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.218)		GBM - Glioblastoma multiforme(99;0.0521)		ATGTTCTAATCGAACATGTTT	0.418													23	42					0	0	1	0	0	T	77581815	C	T	77581815	3	4	354	1	0	0	0	0	1	0	0	0	5753	884	31	1	538	1	FBXL3	13	77581815	Missense_Mutation	SNP	C	TCGA-P5-A5EX-01A-12D-A289-08		77581815	37588063	17	31738											
KIAA1024	23251	broad.mit.edu	37	15	79749239	79749239	+	Silent	SNP	C	C	T			TCGA-P5-A5EX-01A-12D-A289-08	TCGA-P5-A5EX-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42140289-18f9-445b-9f13-4f62850e9d4c	469cfe62-ab1f-4fc4-b38e-bd8c8c9bc1b1	g.chr15:79749239C>T	ENST00000305428.3	+	2	825	c.750C>T	c.(748-750)gtC>gtT	p.V250V		NM_015206.2	NP_056021.1	Q9UPX6	K1024_HUMAN	KIAA1024	250						integral to membrane				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						CATTTGTGGTCCAGTCCTGTG	0.473													27	76					0	0	1	0	0	T	79749239	C	T	79749239	2	4	354	1	0	0	0	0	0	0	0	1	8247	842	30	2		2	KIAA1024	15	79749239	Silent	SNP	C	TCGA-P5-A5EX-01A-12D-A289-08		79749239	22782153	18	31739											
MPRIP	23164	broad.mit.edu	37	17	17046885	17046886	+	Frame_Shift_Ins	INS	-	-	C			TCGA-P5-A5EX-01A-12D-A289-08	TCGA-P5-A5EX-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42140289-18f9-445b-9f13-4f62850e9d4c	469cfe62-ab1f-4fc4-b38e-bd8c8c9bc1b1	g.chr17:17046885_17046886insC	ENST00000395811.5	+	9	1140_1141	c.1051_1052insC	c.(1051-1053)gccfs	p.A351fs	MPRIP_ENST00000395804.3_Frame_Shift_Ins_p.A351fs|MPRIP_ENST00000444976.1_Intron|MPRIP_ENST00000341712.4_Frame_Shift_Ins_p.A351fs	NM_015134.3|NM_201274.3	NP_055949.2|NP_958431.2	Q6WCQ1	MPRIP_HUMAN	myosin phosphatase Rho interacting protein	351	Interaction with F-actin (By similarity).					cytoplasm|cytoskeleton	actin binding			biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						CACCAATGAAGCCCCCCCAGCT	0.649													18	52	---	---	---	---						C	17046886	-	C	17046885	7	5	354	1	0	1	1	0	0	0	0	0	9792	971	34	0	1085	0	MPRIP	17	17046885	Frame_Shift_Ins	INS	-	TCGA-P5-A5EX-01A-12D-A289-08		17046885	64148325	19	31740											
BZRAP1	9256	broad.mit.edu	37	17	56388978	56388978	+	Missense_Mutation	SNP	T	T	C			TCGA-P5-A5EX-01A-12D-A289-08	TCGA-P5-A5EX-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42140289-18f9-445b-9f13-4f62850e9d4c	469cfe62-ab1f-4fc4-b38e-bd8c8c9bc1b1	g.chr17:56388978T>C	ENST00000355701.3	-	18	3905	c.3035A>G	c.(3034-3036)aAc>aGc	p.N1012S	BZRAP1_ENST00000268893.6_Missense_Mutation_p.N952S|BZRAP1_ENST00000343736.4_Missense_Mutation_p.N1012S	NM_001261835.1|NM_004758.3	NP_001248764.1|NP_004749.2	O95153	RIMB1_HUMAN	benzodiazapine receptor (peripheral) associated protein 1	1012	Fibronectin type-III 3.					mitochondrion	benzodiazepine receptor binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CCGGACACCGTTGGATGTGCC	0.602													37	87					0	0	1	0	0	C	56388978	T	C	56388978	3	2	354	1	0	0	0	0	1	0	0	0	1580	1725	60	3	2594	3	BZRAP1	17	56388978	Missense_Mutation	SNP	T	TCGA-P5-A5EX-01A-12D-A289-08	39342093	56388978	24806232	20	31741											
ZNF24	7572	broad.mit.edu	37	18	32917323	32917323	+	Missense_Mutation	SNP	C	C	A			TCGA-P5-A5EX-01A-12D-A289-08	TCGA-P5-A5EX-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42140289-18f9-445b-9f13-4f62850e9d4c	469cfe62-ab1f-4fc4-b38e-bd8c8c9bc1b1	g.chr18:32917323C>A	ENST00000261332.6	-	4	1159	c.980G>T	c.(979-981)aGa>aTa	p.R327I	ZNF24_ENST00000399061.3_Missense_Mutation_p.R327I|ZNF24_ENST00000589881.1_3'UTR	NM_006965.2	NP_008896.2	P17028	ZNF24_HUMAN	zinc finger protein 24	327					myelination|negative regulation of transcription, DNA-dependent|viral reproduction	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R327I(1)		endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	15						AGTATGGATTCTCTGATGATT	0.413													4	50					0.184627	0.189486	1	1	0	A	32917323	C	A	32917323	3	1	354	1	0	0	0	0	1	0	0	0	17850	913	32	4	130	4	ZNF24	18	32917323	Missense_Mutation	SNP	C	TCGA-P5-A5EX-01A-12D-A289-08		32917323	45159925	21	31742											
PRX	57716	broad.mit.edu	37	19	40901791	40901791	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A5EX-01A-12D-A289-08	TCGA-P5-A5EX-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42140289-18f9-445b-9f13-4f62850e9d4c	469cfe62-ab1f-4fc4-b38e-bd8c8c9bc1b1	g.chr19:40901791G>A	ENST00000324001.7	-	7	2738	c.2468C>T	c.(2467-2469)gCg>gTg	p.A823V	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	823					axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding	p.A823V(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CTCAGCACCCGCCTCGCCTGG	0.587													9	79					0	0	1	0	0	A	40901791	G	A	40901791	3	1	354	1	0	0	0	0	1	0	0	0	12691	1087	38	1	1921	1	PRX	19	40901791	Missense_Mutation	SNP	G	TCGA-P5-A5EX-01A-12D-A289-08		40901791	18227192	22	31743											
MYBPC2	4606	broad.mit.edu	37	19	50965235	50965235	+	Missense_Mutation	SNP	G	G	T			TCGA-P5-A5EX-01A-12D-A289-08	TCGA-P5-A5EX-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42140289-18f9-445b-9f13-4f62850e9d4c	469cfe62-ab1f-4fc4-b38e-bd8c8c9bc1b1	g.chr19:50965235G>T	ENST00000357701.5	+	26	3221	c.3170G>T	c.(3169-3171)cGc>cTc	p.R1057L		NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type	1057	Ig-like C2-type 7.				cell adhesion|muscle filament sliding	cytosol|myosin filament	actin binding|structural constituent of muscle			breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		CTCATAGACCGCGTGGTCGTG	0.592											OREG0025636	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2	0					1	1	1	1	0	T	50965235	G	T	50965235	3	4	354	1	0	0	0	0	1	0	0	0	10060	1087	38	5	3272	5	MYBPC2	19	50965235	Missense_Mutation	SNP	G	TCGA-P5-A5EX-01A-12D-A289-08	10063444	50965235	8163748	23	31744											
ZNF551	90233	broad.mit.edu	37	19	58197953	58197953	+	Missense_Mutation	SNP	A	A	G			TCGA-P5-A5EX-01A-12D-A289-08	TCGA-P5-A5EX-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42140289-18f9-445b-9f13-4f62850e9d4c	469cfe62-ab1f-4fc4-b38e-bd8c8c9bc1b1	g.chr19:58197953A>G	ENST00000282296.5	+	3	495	c.310A>G	c.(310-312)Agt>Ggt	p.S104G	ZNF551_ENST00000596085.1_Intron|ZNF551_ENST00000599402.1_3'UTR|AC003006.7_ENST00000594684.1_Intron|ZNF551_ENST00000356715.4_Missense_Mutation_p.S88G|AC003006.7_ENST00000599221.1_Intron			Q7Z340	ZN551_HUMAN	zinc finger protein 551	104					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)	15		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		AACTCACCTCAGTGAGATTAA	0.478													59	51					0	0	1	0	0	G	58197953	A	G	58197953	3	3	354	1	0	0	0	0	1	0	0	0	18040	188	7	3	272	3	ZNF551	19	58197953	Missense_Mutation	SNP	A	TCGA-P5-A5EX-01A-12D-A289-08	7232718	58197953	931030	24	31745											
MAGEB1	4112	broad.mit.edu	37	X	30269583	30269583	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A5EX-01A-12D-A289-08	TCGA-P5-A5EX-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42140289-18f9-445b-9f13-4f62850e9d4c	469cfe62-ab1f-4fc4-b38e-bd8c8c9bc1b1	g.chrX:30269583C>T	ENST00000378981.3	+	4	1294	c.973C>T	c.(973-975)Cgt>Tgt	p.R325C	MAGEB1_ENST00000397550.1_Missense_Mutation_p.R325C|MAGEB1_ENST00000397548.2_Missense_Mutation_p.R325C	NM_002363.4	NP_002354.2	P43366	MAGB1_HUMAN	melanoma antigen family B, 1	325								p.R325C(1)		NS(2)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	32						TAGAGCCAGGCGTCGCACTAC	0.527													41	89					0	0	1	0	0	T	30269583	C	T	30269583	3	4	354	1	0	0	0	0	1	0	0	0	9222	768	27	1	975	1	MAGEB1	23	30269583	Missense_Mutation	SNP	C	TCGA-P5-A5EX-01A-12D-A289-08		30269583	125000977	25	31746											
KIF4A	24137	broad.mit.edu	37	X	69615591	69615591	+	Missense_Mutation	SNP	T	T	G			TCGA-P5-A5EX-01A-12D-A289-08	TCGA-P5-A5EX-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42140289-18f9-445b-9f13-4f62850e9d4c	469cfe62-ab1f-4fc4-b38e-bd8c8c9bc1b1	g.chrX:69615591T>G	ENST00000374403.3	+	21	2385	c.2303T>G	c.(2302-2304)cTt>cGt	p.L768R	KIF4A_ENST00000374388.3_Missense_Mutation_p.L768R	NM_012310.4	NP_036442.3	O95239	KIF4A_HUMAN	kinesin family member 4A	768	Interaction with PRC1.				anterograde axon cargo transport|axon guidance|blood coagulation|organelle organization	chromosome|cytosol|midbody|nuclear matrix|spindle microtubule	ATP binding|DNA binding|microtubule motor activity|protein binding			breast(6)|endometrium(9)|kidney(3)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	51						AATGACCTCCTTGAAGATAGA	0.438													41	55					0	0	1	0	0	G	69615591	T	G	69615591	3	3	354	1	0	0	0	0	1	0	0	0	8345	1609	56	5	2381	5	KIF4A	23	69615591	Missense_Mutation	SNP	T	TCGA-P5-A5EX-01A-12D-A289-08	39346008	69615591	85654969	26	31747											
BRWD3	254065	broad.mit.edu	37	X	79942476	79942476	+	Silent	SNP	A	A	G			TCGA-P5-A5EX-01A-12D-A289-08	TCGA-P5-A5EX-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42140289-18f9-445b-9f13-4f62850e9d4c	469cfe62-ab1f-4fc4-b38e-bd8c8c9bc1b1	g.chrX:79942476A>G	ENST00000373275.4	-	35	4107	c.3891T>C	c.(3889-3891)tcT>tcC	p.S1297S	BRWD3_ENST00000473691.1_5'UTR	NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	1297										breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						TACACTTTAAAGACTGTCTTC	0.383													12	38					0	0	1	0	0	G	79942476	A	G	79942476	2	3	354	1	0	0	0	0	0	0	0	1	1528	59	3	3		3	BRWD3	23	79942476	Silent	SNP	A	TCGA-P5-A5EX-01A-12D-A289-08	10326885	79942476	75328084	27	31748											
OR2T35	403244	broad.mit.edu	37	1	248801912	248801912	+	Silent	SNP	C	C	G	rs146851066	by1000genomes	TCGA-P5-A5EY-01A-11D-A27K-08	TCGA-P5-A5EY-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a5a3795-2b25-41ac-8a9c-36873f0a1a8d	5778bee3-f152-40e1-9e56-d72dc9591de0	g.chr1:248801912C>G	ENST00000317450.3	-	1	647	c.648G>C	c.(646-648)gtG>gtC	p.V216V		NM_001001827.1	NP_001001827.1	Q8NGX2	O2T35_HUMAN	olfactory receptor, family 2, subfamily T, member 35	216					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V216V(1)		endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|skin(1)	6	all_cancers(71;2.04e-05)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.237)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GCGTGTAGGACACAGAGATGA	0.542													3	33					0	0	1	0	0	G	248801912	C	G	248801912	2	3	355	1	0	0	0	0	0	0	0	1	11074	465	17	5		5	OR2T35	1	248801912	Silent	SNP	C	TCGA-P5-A5EY-01A-11D-A27K-08		248801912	448709	1	31749											
BRAF	673	broad.mit.edu	37	7	140477790	140477791	+	Splice_Site	INS	-	-	CTGAGTACT			TCGA-P5-A5EY-01A-11D-A27K-08	TCGA-P5-A5EY-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a5a3795-2b25-41ac-8a9c-36873f0a1a8d	5778bee3-f152-40e1-9e56-d72dc9591de0	g.chr7:140477790_140477791insCTGAGTACT	ENST00000288602.6	-	12	1577_1578		c.e12+1			NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B						activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding		SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	CACAAGCTCACCTGAGTACTCC	0.386		61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				10	44	---	---	---	---						CTGAGTACT	140477791	-	CTGAGTACT	140477790	8	5	355	1	0	1	1	0	0	0	1	0	1498	521	18	0	810	0	BRAF	7	140477790	Splice_Site	INS	-	TCGA-P5-A5EY-01A-11D-A27K-08		140477790	18660873	2	31750											
MYH6	4624	broad.mit.edu	37	14	23851755	23851755	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A5EY-01A-11D-A27K-08	TCGA-P5-A5EY-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a5a3795-2b25-41ac-8a9c-36873f0a1a8d	5778bee3-f152-40e1-9e56-d72dc9591de0	g.chr14:23851755G>A	ENST00000405093.3	-	38	5748	c.5678C>T	c.(5677-5679)aCc>aTc	p.T1893I	MYH6_ENST00000356287.3_Missense_Mutation_p.T1893I	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	1893					adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		GGACAGGTTGGTGTTGGCTTG	0.592													6	152					0	0	1	0	0	A	23851755	G	A	23851755	3	1	355	1	0	0	0	0	1	0	0	0	10086	1261	44	2	149	2	MYH6	14	23851755	Missense_Mutation	SNP	G	TCGA-P5-A5EY-01A-11D-A27K-08		23851755	83497785	3	31751											
SLC6A4	6532	broad.mit.edu	37	17	28548857	28548857	+	Silent	SNP	G	G	A	rs145558656		TCGA-P5-A5EY-01A-11D-A27K-08	TCGA-P5-A5EY-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a5a3795-2b25-41ac-8a9c-36873f0a1a8d	5778bee3-f152-40e1-9e56-d72dc9591de0	g.chr17:28548857G>A	ENST00000401766.2	-	2	632	c.120C>T	c.(118-120)tcC>tcT	p.S40S	SLC6A4_ENST00000261707.3_Silent_p.S40S			P31645	SC6A4_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 4	40					response to toxin|serotonin uptake|thalamus development	cytosol|endomembrane system|endosome membrane|membrane raft	actin filament binding|Rab GTPase binding|serotonin transmembrane transporter activity|serotonin:sodium symporter activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(4)	25					Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Doxepin(DB01142)|Duloxetine(DB00476)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Minaprine(DB00805)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phentermine(DB00191)|Protriptyline(DB00344)|Sertraline(DB01104)|Sibutramine(DB01105)|Tegaserod(DB01079)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Zimelidine(DB04832)	ATATTTGCCCGGACTCCACTT	0.537													4	181					0	0	1	0	0	A	28548857	G	A	28548857	2	1	355	1	0	0	0	0	0	0	0	1	14741	1103	39	1		1	SLC6A4	17	28548857	Silent	SNP	G	TCGA-P5-A5EY-01A-11D-A27K-08		28548857	52646353	4	31752											
IRF3	3661	broad.mit.edu	37	19	50163010	50163010	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A5EY-01A-11D-A27K-08	TCGA-P5-A5EY-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a5a3795-2b25-41ac-8a9c-36873f0a1a8d	5778bee3-f152-40e1-9e56-d72dc9591de0	g.chr19:50163010C>T	ENST00000600911.1	-	6	1455	c.1063G>A	c.(1063-1065)Gca>Aca	p.A355T	IRF3_ENST00000377135.4_Silent_p.L266L|IRF3_ENST00000309877.7_Silent_p.L393L|IRF3_ENST00000599223.1_Silent_p.L266L|IRF3_ENST00000600022.1_Silent_p.L120L|IRF3_ENST00000599680.1_5'UTR|IRF3_ENST00000598808.1_Silent_p.L247L|IRF3_ENST00000596765.1_Silent_p.L120L|IRF3_ENST00000593922.1_Silent_p.L247L|IRF3_ENST00000599144.1_Silent_p.L247L|IRF3_ENST00000596822.1_Missense_Mutation_p.A82T|IRF3_ENST00000597198.1_Silent_p.L393L|IRF3_ENST00000601291.1_Missense_Mutation_p.A399T|IRF3_ENST00000377139.3_Silent_p.L393L			Q14653	IRF3_HUMAN	interferon regulatory factor 3	115	Involved in HERC5 binding.				interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|response to virus|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytosol|endosome membrane|nucleoplasm|plasma membrane	DNA binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			breast(1)|large_intestine(2)|lung(4)|ovary(2)|stomach(1)	10		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.02)		TGGAAATGTGCAGGTCCACAG	0.617													4	143					0	0	1	0	0	T	50163010	C	T	50163010	3	4	355	1	0	0	0	0	1	0	0	0	7875	697	25	2	108	2	IRF3	19	50163010	Missense_Mutation	SNP	C	TCGA-P5-A5EY-01A-11D-A27K-08		50163010	8965973	5	31753											
FPR3	2359	broad.mit.edu	37	19	52327322	52327322	+	Silent	SNP	C	C	A			TCGA-P5-A5EY-01A-11D-A27K-08	TCGA-P5-A5EY-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a5a3795-2b25-41ac-8a9c-36873f0a1a8d	5778bee3-f152-40e1-9e56-d72dc9591de0	g.chr19:52327322C>A	ENST00000339223.4	+	2	500	c.321C>A	c.(319-321)atC>atA	p.I107I	FPR3_ENST00000595991.1_Silent_p.I107I	NM_002030.3	NP_002021.3	P25089	FPR3_HUMAN	formyl peptide receptor 3	107					cellular component movement|chemotaxis	integral to membrane|plasma membrane	N-formyl peptide receptor activity			NS(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)	35						TGATAGACATCAACCTGTTTG	0.478													7	84					0.00198382	0.00210781	1	1	0	A	52327322	C	A	52327322	2	1	355	1	0	0	0	0	0	0	0	1	6074	816	29	5		5	FPR3	19	52327322	Silent	SNP	C	TCGA-P5-A5EY-01A-11D-A27K-08	2164312	52327322	6801661	6	31754											
PRAMEF10	343071	broad.mit.edu	37	1	12954492	12954492	+	Missense_Mutation	SNP	A	A	G			TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr1:12954492A>G	ENST00000235347.4	-	3	870	c.791T>C	c.(790-792)cTc>cCc	p.L264P		NM_001039361.3	NP_001034450.2	O60809	PRA10_HUMAN	PRAME family member 10	264										NS(2)|breast(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	12	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GTACAGGCAGAGGAATGGAGA	0.463													68	112					0	0	1	0	0	G	12954492	A	G	12954492	3	3	356	1	0	0	0	0	1	0	0	0	12475	304	11	3	641	3	PRAMEF10	1	12954492	Missense_Mutation	SNP	A	TCGA-P5-A5EZ-01A-11D-A27K-08		12954492	236296129	1	31755											
DCAF8	50717	broad.mit.edu	37	1	160209956	160209956	+	Missense_Mutation	SNP	C	C	A			TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr1:160209956C>A	ENST00000368073.3	-	4	688	c.254G>T	c.(253-255)gGt>gTt	p.G85V	DCAF8_ENST00000608310.1_Missense_Mutation_p.G239V|DCAF8_ENST00000326837.2_Missense_Mutation_p.G85V|DCAF8_ENST00000556710.1_Missense_Mutation_p.G239V|DCAF8_ENST00000368074.1_Missense_Mutation_p.G85V|DCAF8_ENST00000610139.1_Missense_Mutation_p.G85V|DCAF8_ENST00000475733.1_Missense_Mutation_p.G85V			Q5TAQ9	DCAF8_HUMAN	DDB1 and CUL4 associated factor 8	85						CUL4 RING ubiquitin ligase complex	protein binding			cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(16)|skin(3)|upper_aerodigestive_tract(1)	33						GGAGTAATGACCAGTGTCCTC	0.537													8	21					0.000157383	0.000171435	1	1	0	A	160209956	C	A	160209956	3	1	356	1	0	0	0	0	1	0	0	0	4300	507	18	5	1583	5	DCAF8	1	160209956	Missense_Mutation	SNP	C	TCGA-P5-A5EZ-01A-11D-A27K-08	147255464	160209956	89040665	2	31756											
CNTN2	6900	broad.mit.edu	37	1	205042816	205042816	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr1:205042816C>T	ENST00000331830.4	+	23	3330	c.3046C>T	c.(3046-3048)Cgc>Tgc	p.R1016C		NM_005076.3	NP_005067.1	Q02246	CNTN2_HUMAN	contactin 2 (axonal)	1016					axon guidance|clustering of voltage-gated potassium channels	anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part	identical protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			CATGGCAGTCCGCCCAGCACC	0.607													8	69					0	0	1	0	0	T	205042816	C	T	205042816	3	4	356	1	0	0	0	0	1	0	0	0	3664	652	23	1	3132	1	CNTN2	1	205042816	Missense_Mutation	SNP	C	TCGA-P5-A5EZ-01A-11D-A27K-08	44832860	205042816	44207805	3	31757											
APOB	338	broad.mit.edu	37	2	21241933	21241933	+	Missense_Mutation	SNP	C	C	T	rs149357946	by1000genomes	TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr2:21241933C>T	ENST00000233242.1	-	20	3179	c.3052G>A	c.(3052-3054)Gca>Aca	p.A1018T		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	1018					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TCATAGGTTGCGCTGACAGAA	0.453													41	77					0	0	1	0	0	T	21241933	C	T	21241933	3	4	356	1	0	0	0	0	1	0	0	0	782	768	27	1	10679	1	APOB	2	21241933	Missense_Mutation	SNP	C	TCGA-P5-A5EZ-01A-11D-A27K-08		21241933	221957440	4	31758											
OTOF	9381	broad.mit.edu	37	2	26688866	26688866	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr2:26688866G>A	ENST00000272371.2	-	37	4705	c.4579C>T	c.(4579-4581)Cgc>Tgc	p.R1527C	OTOF_ENST00000403946.3_Missense_Mutation_p.R1527C|OTOF_ENST00000339598.3_Missense_Mutation_p.R760C|OTOF_ENST00000402415.3_Missense_Mutation_p.R837C|OTOF_ENST00000338581.6_Missense_Mutation_p.R760C	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	1527	C2 4.				cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCCTTGTCGCGGATGTCAGTC	0.587													9	81					0	0	1	0	0	A	26688866	G	A	26688866	3	1	356	1	0	0	0	0	1	0	0	0	11350	1116	39	1	1639	1	OTOF	2	26688866	Missense_Mutation	SNP	G	TCGA-P5-A5EZ-01A-11D-A27K-08	5446933	26688866	216510507	5	31759											
ABCG5	64240	broad.mit.edu	37	2	44050052	44050052	+	Silent	SNP	G	G	A	rs139361486		TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr2:44050052G>A	ENST00000543989.1	-	6	1867	c.162C>T	c.(160-162)agC>agT	p.S54S	ABCG5_ENST00000260645.1_Silent_p.S449S|ABCG5_ENST00000405322.1_Silent_p.S278S			Q9H222	ABCG5_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 5	449	ABC transporter.				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity			breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				TCTCCTGGTCGCTGACAGCTC	0.567													15	23					0	0	1	0	0	A	44050052	G	A	44050052	2	1	356	1	0	0	0	0	0	0	0	1	71	1078	38	1		1	ABCG5	2	44050052	Silent	SNP	G	TCGA-P5-A5EZ-01A-11D-A27K-08	17361186	44050052	199149321	6	31760											
SLC1A4	6509	broad.mit.edu	37	2	65248050	65248050	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr2:65248050C>T	ENST00000234256.3	+	8	1612	c.1369C>T	c.(1369-1371)Cgg>Tgg	p.R457W	SLC1A4_ENST00000531327.1_Missense_Mutation_p.R159W	NM_003038.4	NP_003029.2	P43007	SATT_HUMAN	solute carrier family 1 (glutamate/neutral amino acid transporter), member 4	457					cellular nitrogen compound metabolic process|cognition|synaptic transmission, glutamatergic	intermediate filament|melanosome	chloride channel activity|L-alanine transmembrane transporter activity|L-cystine transmembrane transporter activity|L-hydroxyproline transmembrane transporter activity|L-proline transmembrane transporter activity|L-serine transmembrane transporter activity|L-threonine transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|urinary_tract(1)	13					L-Alanine(DB00160)	CACCAGGGACCGGACCACCAC	0.552													38	101					0	0	1	0	0	T	65248050	C	T	65248050	3	4	356	1	0	0	0	0	1	0	0	0	14489	643	23	1	1399	1	SLC1A4	2	65248050	Missense_Mutation	SNP	C	TCGA-P5-A5EZ-01A-11D-A27K-08	21197998	65248050	177951323	7	31761											
SLC35F5	80255	broad.mit.edu	37	2	114480706	114480706	+	Missense_Mutation	SNP	A	A	G			TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr2:114480706A>G	ENST00000245680.2	-	13	1729	c.1316T>C	c.(1315-1317)aTa>aCa	p.I439T	SLC35F5_ENST00000470204.2_5'UTR	NM_025181.2	NP_079457.2	Q8WV83	S35F5_HUMAN	solute carrier family 35, member F5	439					transport	integral to membrane				endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|ovary(2)|prostate(3)|skin(1)	20						GTCAGCTATTATGGACAGAGG	0.308													36	89					0	0	1	0	0	G	114480706	A	G	114480706	3	3	356	1	0	0	0	0	1	0	0	0	14647	449	16	3	267	3	SLC35F5	2	114480706	Missense_Mutation	SNP	A	TCGA-P5-A5EZ-01A-11D-A27K-08	49232656	114480706	128718667	8	31762											
IDH1	3417	broad.mit.edu	37	2	209113113	209113113	+	Missense_Mutation	SNP	G	G	A	rs121913499		TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr2:209113113G>A	ENST00000415913.1	-	4	775	c.394C>T	c.(394-396)Cgt>Tgt	p.R132C	IDH1_ENST00000446179.1_Missense_Mutation_p.R132C|IDH1_ENST00000345146.2_Missense_Mutation_p.R132C	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		TAAGCATGACGACCTATGATG	0.398			Mis		gliobastoma								18	53					0	0	1	0	0	A	209113113	G	A	209113113	3	1	356	1	0	0	0	0	1	0	0	0	7538	1058	37	1	878	1	IDH1	2	209113113	Missense_Mutation	SNP	G	TCGA-P5-A5EZ-01A-11D-A27K-08	94632407	209113113	34086260	9	31763											
CXCR2	3579	broad.mit.edu	37	2	219000218	219000218	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr2:219000218G>A	ENST00000318507.2	+	3	1121	c.694G>A	c.(694-696)Gga>Aga	p.G232R		NM_001557.3	NP_001548.1	P25025	CXCR2_HUMAN	chemokine (C-X-C motif) receptor 2	232					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular defense response|dendritic cell chemotaxis|inflammatory response|neutrophil activation|neutrophil chemotaxis|positive regulation of cell proliferation	cell surface|integral to plasma membrane|mast cell granule	interleukin-8 receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(11)|skin(1)|stomach(1)	22						GTTCTGCTACGGATTCACCCT	0.567													93	224					0	0	1	0	0	A	219000218	G	A	219000218	3	1	356	1	0	0	0	0	1	0	0	0	4114	1117	39	1	696	1	CXCR2	2	219000218	Missense_Mutation	SNP	G	TCGA-P5-A5EZ-01A-11D-A27K-08	9887105	219000218	24199155	10	31764											
PLCD4	84812	broad.mit.edu	37	2	219500985	219500985	+	Silent	SNP	G	G	C			TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr2:219500985G>C	ENST00000450993.2	+	15	2391	c.2052G>C	c.(2050-2052)ggG>ggC	p.G684G	PLCD4_ENST00000417849.1_Silent_p.G684G|PLCD4_ENST00000432688.1_Silent_p.G716G	NM_032726.3	NP_116115.1	Q9BRC7	PLCD4_HUMAN	phospholipase C, delta 4	684	C2.				intracellular signal transduction|lipid catabolic process	endoplasmic reticulum|membrane|nucleus	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|urinary_tract(3)	23		Renal(207;0.0915)		Epithelial(149;5.11e-07)|all cancers(144;0.000104)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		CATACTGGGGGCAGACACTAT	0.418													74	161					0	0	1	0	0	C	219500985	G	C	219500985	2	2	356	1	0	0	0	0	0	0	0	1	12081	1190	42	5		5	PLCD4	2	219500985	Silent	SNP	G	TCGA-P5-A5EZ-01A-11D-A27K-08	500767	219500985	23698388	11	31765											
IRS1	3667	broad.mit.edu	37	2	227660233	227660233	+	Silent	SNP	C	C	T			TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr2:227660233C>T	ENST00000305123.5	-	1	4242	c.3222G>A	c.(3220-3222)cgG>cgA	p.R1074R		NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1						fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		TGAGGTTCACCCGGGTGAAGG	0.647													44	91					0	0	1	0	0	T	227660233	C	T	227660233	2	4	356	1	0	0	0	0	0	0	0	1	7884	610	22	2		2	IRS1	2	227660233	Silent	SNP	C	TCGA-P5-A5EZ-01A-11D-A27K-08	8159248	227660233	15539140	12	31766											
HRH1	3269	broad.mit.edu	37	3	11300958	11300958	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr3:11300958G>A	ENST00000397056.1	+	3	426	c.235G>A	c.(235-237)Gtc>Atc	p.V79I	HRH1_ENST00000438284.2_Missense_Mutation_p.V79I|HRH1_ENST00000431010.2_Missense_Mutation_p.V79I	NM_000861.3|NM_001098211.1	NP_000852.1|NP_001091681.1	P35367	HRH1_HUMAN	histamine receptor H1	79					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|inflammatory response	cytoplasm|integral to plasma membrane|nucleus	histamine receptor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25					Aceprometazine(DB01615)|Astemizole(DB00637)|Azatadine(DB00719)|Azelastine(DB00972)|Benzquinamide(DB00767)|Bepotastine(DB04890)|Bromodiphenhydramine(DB01237)|Brompheniramine(DB00835)|Buclizine(DB00354)|Carbinoxamine(DB00748)|Cetirizine(DB00341)|Chlophedianol(DB04837)|Chlorpheniramine(DB01114)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clemastine(DB00283)|Clozapine(DB00363)|Cyclizine(DB01176)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexbrompheniramine(DB00405)|Dimenhydrinate(DB00985)|Diphenhydramine(DB01075)|Diphenylpyraline(DB01146)|Doxepin(DB01142)|Doxylamine(DB00366)|Emedastine(DB01084)|Epinastine(DB00751)|Fexofenadine(DB00950)|Flunarizine(DB04841)|Histamine Phosphate(DB00667)|Hydroxyzine(DB00557)|Ketotifen(DB00920)|Levocabastine(DB01106)|Loratadine(DB00455)|Maprotiline(DB00934)|Meclizine(DB00737)|Mequitazine(DB01071)|Methdilazine(DB00902)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Nedocromil(DB00716)|Olanzapine(DB00334)|Olopatadine(DB00768)|Orphenadrine(DB01173)|Pemirolast(DB00885)|Phenindamine(DB01619)|Pheniramine(DB01620)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Terfenadine(DB00342)|Thiethylperazine(DB00372)|Trazodone(DB00656)|Trimeprazine(DB01246)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Ziprasidone(DB00246)	CGTGGGTGCCGTCGTCATGCC	0.582													6	99					0	0	1	0	0	A	11300958	G	A	11300958	3	1	356	1	0	0	0	0	1	0	0	0	7396	1145	40	1	237	1	HRH1	3	11300958	Missense_Mutation	SNP	G	TCGA-P5-A5EZ-01A-11D-A27K-08		11300958	186721472	13	31767											
SENP2	59343	broad.mit.edu	37	3	185316806	185316806	+	Missense_Mutation	SNP	A	A	G			TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr3:185316806A>G	ENST00000296257.5	+	4	592	c.352A>G	c.(352-354)Aaa>Gaa	p.K118E	SENP2_ENST00000427465.2_Intron|SENP2_ENST00000465201.1_3'UTR|SENP2_ENST00000545472.1_Missense_Mutation_p.K108E	NM_021627.2	NP_067640.2	Q9HC62	SENP2_HUMAN	SUMO1/sentrin/SMT3 specific peptidase 2	118					mRNA transport|protein desumoylation|protein transport|proteolysis|regulation of Wnt receptor signaling pathway|transmembrane transport|Wnt receptor signaling pathway	cytoplasm|nuclear membrane|nuclear pore	protein binding|SUMO-specific protease activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(3)	12	all_cancers(143;1.28e-10)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)			CAACATGCTGAAACTGGGTGA	0.368													14	35					0	0	1	0	0	G	185316806	A	G	185316806	3	3	356	1	0	0	0	0	1	0	0	0	14101	247	9	3	366	3	SENP2	3	185316806	Missense_Mutation	SNP	A	TCGA-P5-A5EZ-01A-11D-A27K-08	174015848	185316806	12705624	14	31768											
TP63	8626	broad.mit.edu	37	3	189586404	189586404	+	Missense_Mutation	SNP	G	G	T	rs121908841		TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr3:189586404G>T	ENST00000264731.3	+	8	1117	c.1028G>T	c.(1027-1029)cGg>cTg	p.R343L	TP63_ENST00000392463.2_Missense_Mutation_p.R249L|TP63_ENST00000456148.1_Missense_Mutation_p.R249L|TP63_ENST00000440651.2_Missense_Mutation_p.R343L|TP63_ENST00000392460.3_Missense_Mutation_p.R343L|TP63_ENST00000382063.4_Missense_Mutation_p.R258L|TP63_ENST00000418709.2_Missense_Mutation_p.R343L|TP63_ENST00000354600.5_Missense_Mutation_p.R249L|TP63_ENST00000392461.3_Missense_Mutation_p.R249L|TP63_ENST00000320472.5_Missense_Mutation_p.R343L|TP63_ENST00000437221.1_Missense_Mutation_p.R249L|TP63_ENST00000449992.1_Missense_Mutation_p.R164L	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	343			R -> Q (in EEC3).|R -> W (in EEC3).		anti-apoptosis|cellular response to UV|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|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.R343Q(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		TTTGAGGCCCGGATCTGTGCT	0.488										HNSCC(45;0.13)			7	72					0.0381472	0.038783	1	1	0	T	189586404	G	T	189586404	3	4	356	1	0	0	0	0	1	0	0	0	16453	1116	39	5	1104	5	TP63	3	189586404	Missense_Mutation	SNP	G	TCGA-P5-A5EZ-01A-11D-A27K-08	4269598	189586404	8436026	15	31769											
KLF3	51274	broad.mit.edu	37	4	38690343	38690343	+	Silent	SNP	G	G	A			TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr4:38690343G>A	ENST00000261438.5	+	3	500	c.195G>A	c.(193-195)acG>acA	p.T65T	KLF3_ENST00000514033.1_Silent_p.T65T	NM_016531.5	NP_057615.3	P57682	KLF3_HUMAN	Kruppel-like factor 3 (basic)	65	Pro-rich.|Repressor domain.				multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(5)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	18						TGGACCTCACGGTGAACAAGC	0.567													9	78					0	0	1	0	0	A	38690343	G	A	38690343	2	1	356	1	0	0	0	0	0	0	0	1	8390	1103	39	1		1	KLF3	4	38690343	Silent	SNP	G	TCGA-P5-A5EZ-01A-11D-A27K-08		38690343	152463933	16	31770											
SPATA18	132671	broad.mit.edu	37	4	52951155	52951155	+	Missense_Mutation	SNP	G	G	C			TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr4:52951155G>C	ENST00000295213.4	+	11	1927	c.1553G>C	c.(1552-1554)gGt>gCt	p.G518A	SPATA18_ENST00000419395.2_Missense_Mutation_p.G486A	NM_145263.2	NP_660306.1	Q8TC71	MIEAP_HUMAN	spermatogenesis associated 18	518					mitochondrial protein catabolic process|mitochondrion degradation by induced vacuole formation|response to DNA damage stimulus	mitochondrial outer membrane	protein binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)			AGCCAAATTGGTTTAAACACG	0.363													4	44					0	0	1	0	0	C	52951155	G	C	52951155	3	2	356	1	0	0	0	0	1	0	0	0	15059	1261	44	5	1595	5	SPATA18	4	52951155	Missense_Mutation	SNP	G	TCGA-P5-A5EZ-01A-11D-A27K-08	14260812	52951155	138203121	17	31771											
ADH1C	126	broad.mit.edu	37	4	100264168	100264168	+	RNA	SNP	G	G	A	rs78113489		TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr4:100264168G>A	ENST00000510055.1	-	0	786				ADH1C_ENST00000515683.1_RNA			P00326	ADH1G_HUMAN	alcohol dehydrogenase 1C (class I), gamma polypeptide						ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|zinc ion binding								OV - Ovarian serous cystadenocarcinoma(123;1.08e-07)	Fomepizole(DB01213)|NADH(DB00157)	CAGATAGGCCGACCCCTCCCA	0.438													13	286					0	0	1	0	0	A	100264168	G	A	100264168	1	1	356	0	1	0	0	0	0	0	0	0	308	1045	37	1		1	ADH1C	4	100264168	RNA	SNP	G	TCGA-P5-A5EZ-01A-11D-A27K-08	47313013	100264168	90890108	18	31772											
PDZD2	23037	broad.mit.edu	37	5	32072325	32072325	+	Missense_Mutation	SNP	C	C	G			TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr5:32072325C>G	ENST00000438447.1	+	17	3015	c.2627C>G	c.(2626-2628)cCc>cGc	p.P876R	PDZD2_ENST00000282493.3_Missense_Mutation_p.P876R			O15018	PDZD2_HUMAN	PDZ domain containing 2	876					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						GTCCCTGGCCCCTTGTCAGAC	0.547													12	125					0	0	1	0	0	G	32072325	C	G	32072325	3	3	356	1	0	0	0	0	1	0	0	0	11748	623	22	5	2689	5	PDZD2	5	32072325	Missense_Mutation	SNP	C	TCGA-P5-A5EZ-01A-11D-A27K-08		32072325	148842935	19	31773											
PCDHGA7	56108	broad.mit.edu	37	5	140762775	140762775	+	Silent	SNP	G	G	A			TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr5:140762775G>A	ENST00000518325.1	+	1	309	c.309G>A	c.(307-309)ctG>ctA	p.L103L	PCDHGA6_ENST00000517434.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018920.2	NP_061743.1														NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCGGTGTCTGGTAAACTTTA	0.483													9	86					0	0	1	0	0	A	140762775	G	A	140762775	2	1	356	1	0	0	0	0	0	0	0	1	11606	1335	47	2		2	PCDHGA7	5	140762775	Silent	SNP	G	TCGA-P5-A5EZ-01A-11D-A27K-08	108690450	140762775	40152485	20	31774											
GUCA1A	2978	broad.mit.edu	37	6	42146546	42146546	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr6:42146546C>T	ENST00000394237.1	+	5	1334	c.358C>T	c.(358-360)Cgc>Tgc	p.R120C	GUCA1A_ENST00000053469.4_Missense_Mutation_p.R120C|GUCA1A_ENST00000372958.1_Missense_Mutation_p.R120C|GUCA1A_ENST00000541991.1_Missense_Mutation_p.R120C			P43080	GUC1A_HUMAN	guanylate cyclase activator 1A (retina)	120	EF-hand 3.				signal transduction|visual perception	membrane	calcium ion binding|calcium sensitive guanylate cyclase activator activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)	7	Colorectal(47;0.196)		STAD - Stomach adenocarcinoma(11;5.54e-05)|Epithelial(12;0.000167)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CCAGGCCATTCGCGCCATTAA	0.582													34	359					0	0	1	0	0	T	42146546	C	T	42146546	3	4	356	1	0	0	0	0	1	0	0	0	6929	884	31	1	368	1	GUCA1A	6	42146546	Missense_Mutation	SNP	C	TCGA-P5-A5EZ-01A-11D-A27K-08		42146546	128968521	21	31775											
SLC17A5	26503	broad.mit.edu	37	6	74325149	74325149	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr6:74325149G>A	ENST00000355773.5	-	8	1268	c.1000C>T	c.(1000-1002)Cct>Tct	p.P334S	SLC17A5_ENST00000393019.3_3'UTR	NM_012434.4	NP_036566.1	Q9NRA2	S17A5_HUMAN	solute carrier family 17 (acidic sugar transporter), member 5	334			P -> R (in ISSD).		anion transport	integral to plasma membrane|lysosomal membrane|membrane fraction	sialic acid:hydrogen symporter activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CCTAAATAAGGCAATGAAGAT	0.353													5	36					0	0	1	0	0	A	74325149	G	A	74325149	3	1	356	1	0	0	0	0	1	0	0	0	14475	1203	42	2	503	2	SLC17A5	6	74325149	Missense_Mutation	SNP	G	TCGA-P5-A5EZ-01A-11D-A27K-08	32178603	74325149	96789918	22	31776											
ROS1	6098	broad.mit.edu	37	6	117706989	117706989	+	Missense_Mutation	SNP	C	C	G			TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr6:117706989C>G	ENST00000368508.3	-	15	2359	c.2161G>C	c.(2161-2163)Gac>Cac	p.D721H	ROS1_ENST00000368507.3_Missense_Mutation_p.D716H|GOPC_ENST00000467125.1_Intron	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	721					transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		CCTTTCGTGTCACTGTAGTAG	0.403			T	"GOPC, SDC4, SLC34A2, EZR, LRIG3"	"glioblastoma, NSCLC"								4	54					0	0	1	0	0	G	117706989	C	G	117706989	3	3	356	1	0	0	0	0	1	0	0	0	13583	826	29	5	4998	5	ROS1	6	117706989	Missense_Mutation	SNP	C	TCGA-P5-A5EZ-01A-11D-A27K-08	43381840	117706989	53408078	23	31777											
ZDHHC14	79683	broad.mit.edu	37	6	158066844	158066844	+	Silent	SNP	C	C	T			TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr6:158066844C>T	ENST00000359775.5	+	6	1717	c.828C>T	c.(826-828)atC>atT	p.I276I	ZDHHC14_ENST00000341375.8_3'UTR|ZDHHC14_ENST00000414563.2_Silent_p.I276I			Q8IZN3	ZDH14_HUMAN	zinc finger, DHHC-type containing 14	276						integral to membrane	acyltransferase activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1)	17		Breast(66;0.00586)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;2.9e-17)|BRCA - Breast invasive adenocarcinoma(81;5.8e-05)		CCTACTTGATCAGCTCCAACC	0.527													6	24					0	0	1	0	0	T	158066844	C	T	158066844	2	4	356	1	0	0	0	0	0	0	0	1	17662	816	29	2		2	ZDHHC14	6	158066844	Silent	SNP	C	TCGA-P5-A5EZ-01A-11D-A27K-08	40359855	158066844	13048223	24	31778											
DNAH11	8701	broad.mit.edu	37	7	21640731	21640731	+	Missense_Mutation	SNP	T	T	C			TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr7:21640731T>C	ENST00000328843.6	+	17	3390	c.3359T>C	c.(3358-3360)tTg>tCg	p.L1120S	DNAH11_ENST00000409508.3_Missense_Mutation_p.L1120S			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1120	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						AAAGTGAGCTTGTTAACCATA	0.353									Kartagener syndrome				13	36					0	0	1	0	0	C	21640731	T	C	21640731	3	2	356	1	0	0	0	0	1	0	0	0	4627	1821	63	3	3425	3	DNAH11	7	21640731	Missense_Mutation	SNP	T	TCGA-P5-A5EZ-01A-11D-A27K-08		21640731	137497932	25	31779											
AUTS2	26053	broad.mit.edu	37	7	70227916	70227916	+	Missense_Mutation	SNP	T	T	C			TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr7:70227916T>C	ENST00000342771.4	+	7	1124	c.803T>C	c.(802-804)gTc>gCc	p.V268A	AUTS2_ENST00000406775.2_Missense_Mutation_p.V268A	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	268										breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		GGGCCGATTGTCCCCAAGATA	0.537													18	282					0	0	1	0	0	C	70227916	T	C	70227916	3	2	356	1	0	0	0	0	1	0	0	0	1223	1667	58	3	974	3	AUTS2	7	70227916	Missense_Mutation	SNP	T	TCGA-P5-A5EZ-01A-11D-A27K-08	48587185	70227916	88910747	26	31780											
ESRP1	54845	broad.mit.edu	37	8	95680362	95680362	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr8:95680362G>A	ENST00000433389.2	+	10	1307	c.1117G>A	c.(1117-1119)Gct>Act	p.A373T	ESRP1_ENST00000358397.5_Missense_Mutation_p.A373T|ESRP1_ENST00000454170.2_Missense_Mutation_p.A373T|ESRP1_ENST00000423620.2_Missense_Mutation_p.A373T	NM_001034915.2|NM_017697.3	NP_001030087.2|NP_060167.2	Q6NXG1	ESRP1_HUMAN	epithelial splicing regulatory protein 1	373	RRM 2.				mRNA processing|regulation of RNA splicing|RNA splicing	nucleus|plasma membrane	mRNA binding|nucleotide binding		ESRP1/RAF1(4)	NS(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(2)	20						AACAGGGGACGCTTTTGTCCT	0.483													7	90					0	0	1	0	0	A	95680362	G	A	95680362	3	1	356	1	0	0	0	0	1	0	0	0	5286	1087	38	1	1155	1	ESRP1	8	95680362	Missense_Mutation	SNP	G	TCGA-P5-A5EZ-01A-11D-A27K-08		95680362	50683660	27	31781											
ELAVL2	1993	broad.mit.edu	37	9	23701564	23701564	+	Nonsense_Mutation	SNP	G	G	A			TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr9:23701564G>A	ENST00000397312.2	-	5	800	c.526C>T	c.(526-528)Cga>Tga	p.R176*	ELAVL2_ENST00000544538.1_Nonsense_Mutation_p.R176*|ELAVL2_ENST00000380110.4_Nonsense_Mutation_p.R205*|ELAVL2_ENST00000223951.6_Nonsense_Mutation_p.R176*|ELAVL2_ENST00000380117.1_Nonsense_Mutation_p.R176*	NM_004432.3	NP_004423.2	Q12926	ELAV2_HUMAN	ELAV like neuron-specific RNA binding protein 2	176	RRM 2.				regulation of transcription, DNA-dependent		mRNA 3'-UTR binding|nucleotide binding|protein binding	p.R176*(1)		breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19)		GCCTCAATTCGCTTGTCAAAT	0.443													10	127					0	0	1	0	0	A	23701564	G	A	23701564	4	1	356	1	0	0	0	0	0	1	0	0	5078	1095	38	1	565	1	ELAVL2	9	23701564	Nonsense_Mutation	SNP	G	TCGA-P5-A5EZ-01A-11D-A27K-08		23701564	117511867	28	31782											
FBXW4	6468	broad.mit.edu	37	10	103433381	103433381	+	Frame_Shift_Del	DEL	C	C	-			TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr10:103433381delC	ENST00000331272.7	-	3	1024	c.406delG	c.(406-408)gctfs	p.A136fs		NM_022039.3	NP_071322.1	P57775	FBXW4_HUMAN	F-box and WD repeat domain containing 4	136					ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	ubiquitin ligase complex				breast(3)|endometrium(2)|large_intestine(4)|lung(4)|skin(1)|stomach(1)	15		Colorectal(252;0.123)		Epithelial(162;4.35e-08)|all cancers(201;1.92e-06)		ATGAAATTAGCCTGGGATATG	0.458													10	80	---	---	---	---						-	103433381	C	-	103433381	7	5	356	1	0	1	0	1	0	0	0	0	5800	739	26	0	860	0	FBXW4	10	103433381	Frame_Shift_Del	DEL	C	TCGA-P5-A5EZ-01A-11D-A27K-08		103433381	32101366	29	31783											
KNDC1	85442	broad.mit.edu	37	10	135024204	135024204	+	Missense_Mutation	SNP	A	A	G			TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr10:135024204A>G	ENST00000304613.3	+	21	3905	c.3884A>G	c.(3883-3885)gAc>gGc	p.D1295G	KNDC1_ENST00000368572.2_Missense_Mutation_p.D1297G			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	1295	N-terminal Ras-GEF.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction					NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		TTCCTCCTCGACCGCATCAAC	0.627													9	165					0	0	1	0	0	G	135024204	A	G	135024204	3	3	356	1	0	0	0	0	1	0	0	0	8469	275	10	3	3966	3	KNDC1	10	135024204	Missense_Mutation	SNP	A	TCGA-P5-A5EZ-01A-11D-A27K-08	31590823	135024204	510543	30	31784											
TTC17	55761	broad.mit.edu	37	11	43515339	43515339	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr11:43515339C>T	ENST00000039989.4	+	24	3325	c.3311C>T	c.(3310-3312)gCa>gTa	p.A1104V		NM_018259.5	NP_060729.2	Q96AE7	TTC17_HUMAN	tetratricopeptide repeat domain 17	1104							binding			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						TTTGAAAAAGCACTGGTGTGG	0.463													62	172					0	0	1	0	0	T	43515339	C	T	43515339	3	4	356	1	0	0	0	0	1	0	0	0	16746	710	25	2	3405	2	TTC17	11	43515339	Missense_Mutation	SNP	C	TCGA-P5-A5EZ-01A-11D-A27K-08		43515339	91491177	31	31785											
OR9G1	390174	broad.mit.edu	37	11	56468248	56468248	+	Missense_Mutation	SNP	C	C	G			TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr11:56468248C>G	ENST00000312153.1	+	1	385	c.385C>G	c.(385-387)Ctg>Gtg	p.L129V		NM_001005213.1	NP_001005213.1			olfactory receptor, family 9, subfamily G, member 1											breast(2)|kidney(1)|lung(25)|stomach(2)|upper_aerodigestive_tract(1)	31						CTCCAAGCCCCTGCTTTATGC	0.512													11	184					0	0	1	0	0	G	56468248	C	G	56468248	3	3	356	1	0	0	0	0	1	0	0	0	11297	680	24	4	387	4	OR9G1	11	56468248	Missense_Mutation	SNP	C	TCGA-P5-A5EZ-01A-11D-A27K-08	12952909	56468248	78538268	32	31786											
TTC12	54970	broad.mit.edu	37	11	113211422	113211422	+	Missense_Mutation	SNP	T	T	A			TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr11:113211422T>A	ENST00000393020.1	+	11	1268	c.863T>A	c.(862-864)tTt>tAt	p.F288Y	TTC12_ENST00000483239.2_Missense_Mutation_p.F294Y|TTC12_ENST00000529221.1_Missense_Mutation_p.F288Y|TTC12_ENST00000314756.3_Missense_Mutation_p.F288Y			Q9H892	TTC12_HUMAN	tetratricopeptide repeat domain 12	288							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		all_cancers(61;2.73e-16)|all_epithelial(67;8.64e-10)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.183)|Renal(330;0.187)		BRCA - Breast invasive adenocarcinoma(274;5.3e-06)|Epithelial(105;8.37e-05)|all cancers(92;0.000694)		CACAATGGATTTAGTATCATC	0.438													7	63					0	0	1	0	0	A	113211422	T	A	113211422	3	1	356	1	0	0	0	0	1	0	0	0	16741	1841	64	5	901	5	TTC12	11	113211422	Missense_Mutation	SNP	T	TCGA-P5-A5EZ-01A-11D-A27K-08	56743174	113211422	21795094	33	31787											
WNK1	65125	broad.mit.edu	37	12	993858	993859	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr12:993858_993859delCT	ENST00000537687.1	+	19	5311_5312	c.4668_4669delCT	c.(4666-4671)cactctfs	p.S1557fs	WNK1_ENST00000340908.4_Frame_Shift_Del_p.S890fs|WNK1_ENST00000535572.1_Frame_Shift_Del_p.S1050fs|WNK1_ENST00000315939.6_Frame_Shift_Del_p.S1297fs|WNK1_ENST00000530271.2_Frame_Shift_Del_p.S1795fs	NM_001184985.1|NM_213655.4	NP_001171914.1|NP_998820.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	1297					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			ACTTGTCTCACTCTGCATCATC	0.431													11	151	---	---	---	---						-	993859	CT	-	993858	7	5	356	1	0	1	0	1	0	0	0	0	17437	564	20	0	5464	0	WNK1	12	993858	Frame_Shift_Del	DEL	CT	TCGA-P5-A5EZ-01A-11D-A27K-08		993858	132858037	34	31788											
NCAPD2	9918	broad.mit.edu	37	12	6635636	6635636	+	Silent	SNP	C	C	G			TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr12:6635636C>G	ENST00000315579.5	+	21	3388	c.2589C>G	c.(2587-2589)ctC>ctG	p.L863L	NCAPD2_ENST00000545962.1_Silent_p.L818L|NCAPD2_ENST00000542492.1_3'UTR	NM_014865.3	NP_055680.3	Q15021	CND1_HUMAN	non-SMC condensin I complex, subunit D2	863					cell division|mitotic chromosome condensation	condensin core heterodimer|cytoplasm	histone binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	48						CAGACCCACTCTGGATCCCAT	0.552													9	121					0	0	1	0	0	G	6635636	C	G	6635636	2	3	356	1	0	0	0	0	0	0	0	1	10252	900	32	4		4	NCAPD2	12	6635636	Silent	SNP	C	TCGA-P5-A5EZ-01A-11D-A27K-08	5641778	6635636	127216259	35	31789											
RCBTB1	55213	broad.mit.edu	37	13	50134077	50134077	+	Missense_Mutation	SNP	T	T	C	rs147650879	byFrequency	TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr13:50134077T>C	ENST00000378302.2	-	5	681	c.421A>G	c.(421-423)Atg>Gtg	p.M141V	RCBTB1_ENST00000546015.1_Missense_Mutation_p.M141V|RCBTB1_ENST00000258646.3_Missense_Mutation_p.M141V	NM_018191.3	NP_060661.3	Q8NDN9	RCBT1_HUMAN	regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 1	141					cell cycle|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|urinary_tract(1)	16		Lung NSC(96;2.1e-05)|Breast(56;0.00015)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;4.7e-09)		GCCAGAGCCATTGAATGATGT	0.413													53	126					0	0	1	0	0	C	50134077	T	C	50134077	3	2	356	1	0	0	0	0	1	0	0	0	13223	1493	52	3	1210	3	RCBTB1	13	50134077	Missense_Mutation	SNP	T	TCGA-P5-A5EZ-01A-11D-A27K-08		50134077	65035801	36	31790											
TEP1	7011	broad.mit.edu	37	14	20854643	20854643	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr14:20854643G>A	ENST00000262715.5	-	19	2864	c.2824C>T	c.(2824-2826)Cgc>Tgc	p.R942C	TEP1_ENST00000556935.1_Missense_Mutation_p.R834C	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	942					telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		ACGCCCCAGCGGAGGTCGATT	0.657													7	43					0	0	1	0	0	A	20854643	G	A	20854643	3	1	356	1	0	0	0	0	1	0	0	0	15818	1116	39	1	5207	1	TEP1	14	20854643	Missense_Mutation	SNP	G	TCGA-P5-A5EZ-01A-11D-A27K-08		20854643	86494897	37	31791											
PRMT5	10419	broad.mit.edu	37	14	23395475	23395475	+	Missense_Mutation	SNP	T	T	C			TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr14:23395475T>C	ENST00000324366.8	-	7	867	c.644A>G	c.(643-645)aAt>aGt	p.N215S	PRMT5_ENST00000553641.1_5'UTR|PRMT5_ENST00000397440.4_Intron|PRMT5_ENST00000397441.2_Missense_Mutation_p.N198S|PRMT5_ENST00000553897.1_Missense_Mutation_p.N171S|PRMT5-AS1_ENST00000595662.1_RNA|PRMT5-AS1_ENST00000590290.1_RNA|PRMT5-AS1_ENST00000587245.2_RNA|PRMT5-AS1_ENST00000599580.2_RNA|PRMT5_ENST00000216350.8_Missense_Mutation_p.N154S|PRMT5_ENST00000538452.1_Missense_Mutation_p.N109S	NM_006109.3	NP_006100.2	O14744	ANM5_HUMAN	protein arginine methyltransferase 5	215					cell proliferation|histone H4-R3 methylation|ncRNA metabolic process|regulation of mitosis|spliceosomal snRNP assembly|transcription, DNA-dependent	cytosol|nucleus	histone-arginine N-methyltransferase activity|protein binding|protein-arginine omega-N symmetric methyltransferase activity|ribonucleoprotein binding			endometrium(4)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	25	all_cancers(95;2.76e-05)			GBM - Glioblastoma multiforme(265;0.0126)		AATGACATGATTAGATGGGAG	0.473													10	91					0	0	1	0	0	C	23395475	T	C	23395475	3	2	356	1	0	0	0	0	1	0	0	0	12591	1493	52	3	1313	3	PRMT5	14	23395475	Missense_Mutation	SNP	T	TCGA-P5-A5EZ-01A-11D-A27K-08	2540832	23395475	83954065	38	31792											
SERPINA3	12	broad.mit.edu	37	14	95085593	95085593	+	Missense_Mutation	SNP	G	G	C			TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr14:95085593G>C	ENST00000467132.1	+	3	1853	c.705G>C	c.(703-705)aaG>aaC	p.K235N	SERPINA3_ENST00000393080.4_Missense_Mutation_p.K235N|SERPINA3_ENST00000482740.1_Missense_Mutation_p.K17N|RP11-986E7.7_ENST00000553947.1_3'UTR|SERPINA3_ENST00000393078.3_Missense_Mutation_p.K235N			P01011	AACT_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3	235					acute-phase response|maintenance of gastrointestinal epithelium|regulation of lipid metabolic process|regulation of proteolysis	extracellular region|nucleus	DNA binding|protein binding|serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(17)|ovary(2)|pancreas(1)|skin(3)|stomach(1)	40		all_cancers(154;0.0525)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228)		ACTTGAGCAAGAAAAAGTGGG	0.507													38	38					0	0	1	0	0	C	95085593	G	C	95085593	3	2	356	1	0	0	0	0	1	0	0	0	14144	933	33	4	711	4	SERPINA3	14	95085593	Missense_Mutation	SNP	G	TCGA-P5-A5EZ-01A-11D-A27K-08	71690118	95085593	12263947	39	31793											
CDH13	1012	broad.mit.edu	37	16	83251008	83251009	+	Frame_Shift_Del	DEL	AT	AT	-			TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr16:83251008_83251009delAT	ENST00000566620.1	+	5	832_833	c.542_543delAT	c.(541-543)gatfs	p.D181fs	CDH13_ENST00000569454.1_3'UTR|CDH13_ENST00000428848.3_Frame_Shift_Del_p.D142fs|CDH13_ENST00000268613.10_Frame_Shift_Del_p.D228fs	NM_001220488.1|NM_001220489.1|NM_001220490.1|NM_001257.4	NP_001207417.1|NP_001207418.1|NP_001207419.1|NP_001248.1	P55290	CAD13_HUMAN	cadherin 13	181	Cadherin 1.				adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|Rac protein signal transduction|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|Rho protein signal transduction|sprouting angiogenesis	anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection	adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding			large_intestine(1)	1		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)		COAD - Colon adenocarcinoma(5;0.0268)		AAGGGAGTGGATCAAGAGCCTA	0.455													8	125	---	---	---	---						-	83251009	AT	-	83251008	7	5	356	1	0	1	0	1	0	0	0	0	3121	333	12	0	560	0	CDH13	16	83251008	Frame_Shift_Del	DEL	AT	TCGA-P5-A5EZ-01A-11D-A27K-08		83251008	7103745	40	31794											
TP53	7157	broad.mit.edu	37	17	7578213	7578213	+	Frame_Shift_Del	DEL	A	A	-			TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr17:7578213delA	ENST00000420246.2	-	6	768	c.636delT	c.(634-636)tttfs	p.F212fs	TP53_ENST00000413465.2_Frame_Shift_Del_p.F212fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.F212fs|TP53_ENST00000574684.1_Intron|TP53_ENST00000359597.4_Frame_Shift_Del_p.F212fs|TP53_ENST00000269305.4_Frame_Shift_Del_p.F212fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.F212fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	212	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		F -> I (in sporadic cancers; somatic mutation).|F -> L (in sporadic cancers; somatic mutation).|F -> S (in sporadic cancers; somatic mutation).|F -> V (in a sporadic cancer; somatic mutation).|F -> Y (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.0?(8)|p.F212fs*3(6)|p.?(5)|p.R213fs*35(3)|p.F212L(2)|p.D208fs*1(1)|p.R209_R213delRNTFR(1)|p.F119fs*3(1)|p.T211fs*28(1)|p.D207_R213delDDRNTFR(1)|p.D207_V216del10(1)|p.T211_S215delTFRHS(1)|p.F80fs*3(1)|p.R120fs*35(1)|p.R209fs*6(1)|p.R81fs*>11(1)|p.D208_V216delDRNTFRHSV(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)		CACTATGTCGAAAAGTGTTTC	0.532		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)			45	32	---	---	---	---						-	7578213	A	-	7578213	7	5	356	1	0	1	0	1	0	0	0	0	16442	243	9	0	658	0	TP53	17	7578213	Frame_Shift_Del	DEL	A	TCGA-P5-A5EZ-01A-11D-A27K-08		7578213	73616997	41	31795											
CCR7	1236	broad.mit.edu	37	17	38711204	38711204	+	Silent	SNP	G	G	A			TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr17:38711204G>A	ENST00000246657.2	-	3	989	c.927C>T	c.(925-927)gaC>gaT	p.D309D	CCR7_ENST00000579344.1_Silent_p.D303D	NM_001838.3	NP_001829.1	P32248	CCR7_HUMAN	chemokine (C-C motif) receptor 7	309					cell maturation|immunological synapse formation|inflammatory response|interleukin-12 secretion|lymphocyte migration into lymph node|positive regulation of dendritic cell antigen processing and presentation|positive regulation of glycoprotein biosynthetic process|positive regulation of humoral immune response|positive regulation of hypersensitivity|positive regulation of interleukin-12 production|positive regulation of neutrophil chemotaxis|regulation of interferon-gamma production|regulation of interleukin-1 beta secretion|T cell costimulation	integral to membrane|intracellular	C-C chemokine receptor activity|chemokine (C-C motif) ligand 19 binding|chemokine (C-C motif) ligand 21 binding			breast(1)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		Breast(137;0.000496)				TGTAGGTGACGTCGTAGGCGA	0.567													8	89					0	0	1	0	0	A	38711204	G	A	38711204	2	1	356	1	0	0	0	0	0	0	0	1	2968	1136	40	1		1	CCR7	17	38711204	Silent	SNP	G	TCGA-P5-A5EZ-01A-11D-A27K-08	31132991	38711204	42484006	42	31796											
KRT37	8688	broad.mit.edu	37	17	39579137	39579137	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr17:39579137C>T	ENST00000225550.3	-	3	624	c.625G>A	c.(625-627)Ggg>Agg	p.G209R	AC003958.2_ENST00000432258.1_RNA	NM_003770.4	NP_003761.3	O76014	KRT37_HUMAN	keratin 37	209	Coil 1B.|Rod.					intermediate filament	structural molecule activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	25		Breast(137;0.000496)				TTCTGCGTCCCGCACTTGTCC	0.627													29	128					0	0	1	0	0	T	39579137	C	T	39579137	3	4	356	1	0	0	0	0	1	0	0	0	8517	652	23	1	744	1	KRT37	17	39579137	Missense_Mutation	SNP	C	TCGA-P5-A5EZ-01A-11D-A27K-08	867933	39579137	41616073	43	31797											
TJP3	27134	broad.mit.edu	37	19	3730650	3730650	+	Missense_Mutation	SNP	G	G	T			TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr19:3730650G>T	ENST00000541714.2	+	5	1021	c.559G>T	c.(559-561)Gac>Tac	p.D187Y	TJP3_ENST00000587686.1_Missense_Mutation_p.D206Y|TJP3_ENST00000262968.9_Missense_Mutation_p.D206Y|TJP3_ENST00000382008.3_Missense_Mutation_p.D187Y|TJP3_ENST00000539908.2_Missense_Mutation_p.D151Y|TJP3_ENST00000589378.1_Missense_Mutation_p.D196Y	NM_001267560.1	NP_001254489.1	O95049	ZO3_HUMAN	tight junction protein 3	187						tight junction	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)		GCCACGGCAGGACGTGCAGAT	0.657													6	82					0.00116845	0.00122888	1	1	0	T	3730650	G	T	3730650	3	4	356	1	0	0	0	0	1	0	0	0	15991	1174	41	5	630	5	TJP3	19	3730650	Missense_Mutation	SNP	G	TCGA-P5-A5EZ-01A-11D-A27K-08		3730650	55398333	44	31798											
MUC16	94025	broad.mit.edu	37	19	9075050	9075050	+	Silent	SNP	T	T	A			TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr19:9075050T>A	ENST00000397910.4	-	3	12599	c.12396A>T	c.(12394-12396)tcA>tcT	p.S4132S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4134	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGGTCTTCTCTGAGTATGTAA	0.517													10	111					0	0	1	0	0	A	9075050	T	A	9075050	2	1	356	1	0	0	0	0	0	0	0	1	10021	1567	55	5		5	MUC16	19	9075050	Silent	SNP	T	TCGA-P5-A5EZ-01A-11D-A27K-08	5344400	9075050	50053933	45	31799											
C20orf26	26074	broad.mit.edu	37	20	20056252	20056252	+	Missense_Mutation	SNP	A	A	C			TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr20:20056252A>C	ENST00000245957.5	+	6	635	c.559A>C	c.(559-561)Aaa>Caa	p.K187Q	C20orf26_ENST00000377306.1_Missense_Mutation_p.K187Q|C20orf26_ENST00000377309.2_5'UTR|C20orf26_ENST00000389656.3_5'UTR|C20orf26_ENST00000451767.2_Missense_Mutation_p.K187Q	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN	chromosome 20 open reading frame 26	187										NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		GCACGTTCGCAAAGCCAGGTA	0.478													7	104					0	0	1	0	0	C	20056252	A	C	20056252	3	2	356	1	0	0	0	0	1	0	0	0	2120	131	5	5	577	5	C20orf26	20	20056252	Missense_Mutation	SNP	A	TCGA-P5-A5EZ-01A-11D-A27K-08		20056252	42969268	46	31800											
HCK	3055	broad.mit.edu	37	20	30659555	30659555	+	Silent	SNP	C	C	T	rs112610391		TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr20:30659555C>T	ENST00000534862.1	+	3	456	c.93C>T	c.(91-93)taC>taT	p.Y31Y	HCK_ENST00000520553.1_Silent_p.Y30Y|HCK_ENST00000375862.2_Silent_p.Y51Y|HCK_ENST00000375852.2_Silent_p.Y51Y|HCK_ENST00000538448.1_Silent_p.Y30Y|HCK_ENST00000518730.1_Silent_p.Y30Y	NM_001172132.1	NP_001165603.1	P08631	HCK_HUMAN	hemopoietic cell kinase	51					interspecies interaction between organisms|mesoderm development|regulation of defense response to virus by virus|viral reproduction	caveola|cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(4)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			GTCCTGTGTACGTGCCGGATC	0.582													9	74					0	0	1	0	0	T	30659555	C	T	30659555	2	4	356	1	0	0	0	0	0	0	0	1	7035	547	19	1		1	HCK	20	30659555	Silent	SNP	C	TCGA-P5-A5EZ-01A-11D-A27K-08	10603303	30659555	32365965	47	31801											
HIRA	7290	broad.mit.edu	37	22	19365445	19365445	+	Missense_Mutation	SNP	C	C	G			TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr22:19365445C>G	ENST00000263208.5	-	14	1816	c.1560G>C	c.(1558-1560)gaG>gaC	p.E520D	HIRA_ENST00000541063.1_Missense_Mutation_p.E476D|HIRA_ENST00000546308.1_Missense_Mutation_p.E476D|HIRA_ENST00000340170.4_Missense_Mutation_p.E520D	NM_003325.3	NP_003316.3	P54198	HIRA_HUMAN	histone cell cycle regulator	520	Interaction with CCNA1.				chromatin modification|regulation of transcription from RNA polymerase II promoter	PML body	chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1)	37	Colorectal(54;0.0993)					CCACCACAGGCTCTGTGCAAG	0.582													82	154					0	0	1	0	0	G	19365445	C	G	19365445	3	3	356	1	0	0	0	0	1	0	0	0	7161	796	28	4	1541	4	HIRA	22	19365445	Missense_Mutation	SNP	C	TCGA-P5-A5EZ-01A-11D-A27K-08		19365445	31939121	48	31802											
LIMK2	3985	broad.mit.edu	37	22	31663038	31663038	+	Silent	SNP	G	G	A			TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr22:31663038G>A	ENST00000331728.4	+	9	1224	c.1110G>A	c.(1108-1110)caG>caA	p.Q370Q	LIMK2_ENST00000340552.4_Silent_p.Q349Q|LIMK2_ENST00000444929.2_Silent_p.Q124Q|LIMK2_ENST00000333611.4_Silent_p.Q349Q|LIMK2_ENST00000406516.1_Silent_p.Q292Q	NM_005569.3	NP_005560.1	P53671	LIMK2_HUMAN	LIM domain kinase 2	370	Protein kinase.					mitochondrion|nucleus	ATP binding|protein serine/threonine kinase activity|zinc ion binding			endometrium(7)|kidney(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(4)|skin(1)	29						AGGAGACCCAGAAAACTTTTC	0.473													3	12					0	0	1	0	0	A	31663038	G	A	31663038	2	1	356	1	0	0	0	0	0	0	0	1	8842	933	33	2		2	LIMK2	22	31663038	Silent	SNP	G	TCGA-P5-A5EZ-01A-11D-A27K-08	12297593	31663038	19641528	49	31803											
HRNR	388697	broad.mit.edu	37	1	152191766	152191766	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A5F0-01A-11D-A289-08	TCGA-P5-A5F0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edcbd6b-d64f-453b-8e9e-c1fbf6d99cf4	a5d89ce8-081f-4b72-993d-47b28b7bf6e3	g.chr1:152191766C>T	ENST00000368801.2	-	3	2414	c.2339G>A	c.(2338-2340)cGa>cAa	p.R780Q	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	780					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGACCCATGTCGGACACGGCT	0.602													35	79					0	0	1	0	0	T	152191766	C	T	152191766	3	4	357	1	0	0	0	0	1	0	0	0	7400	884	31	1	6217	1	HRNR	1	152191766	Missense_Mutation	SNP	C	TCGA-P5-A5F0-01A-11D-A289-08		152191766	97058855	1	31804											
MUC1	4582	broad.mit.edu	37	1	155161799	155161799	+	Missense_Mutation	SNP	T	T	G			TCGA-P5-A5F0-01A-11D-A289-08	TCGA-P5-A5F0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edcbd6b-d64f-453b-8e9e-c1fbf6d99cf4	a5d89ce8-081f-4b72-993d-47b28b7bf6e3	g.chr1:155161799T>G	ENST00000368395.1	-	2	405	c.334A>C	c.(334-336)Acc>Ccc	p.T112P	MUC1_ENST00000342482.4_Intron|MUC1_ENST00000343256.5_Intron|MUC1_ENST00000368393.3_Intron|MUC1_ENST00000457295.2_Intron|MUC1_ENST00000438413.1_Intron|MUC1_ENST00000338684.5_Intron|MUC1_ENST00000337604.5_Intron|MUC1_ENST00000462215.1_Intron|MUC1_ENST00000368398.3_Intron|MUC1_ENST00000368396.4_Intron|MUC1_ENST00000368392.3_Intron|MUC1_ENST00000368389.2_Intron|MUC1_ENST00000368390.3_Intron	NM_001204285.1|NM_001204286.1	NP_001191214.1|NP_001191215.1	P15941	MUC1_HUMAN	mucin 1, cell surface associated	892						apical plasma membrane|cell surface|cytoplasm|extracellular region|integral to plasma membrane|nucleus	protein binding			breast(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|skin(2)	10	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;5.31e-10)|all cancers(21;2.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			GCTGGCGGGGTGGTGGAGCCC	0.711			T	IGH@	B-NHL								11	25					0	0	1	0	0	G	155161799	T	G	155161799	3	3	357	1	0	0	0	0	1	0	0	0	10018	1711	59	5		5	MUC1	1	155161799	Missense_Mutation	SNP	T	TCGA-P5-A5F0-01A-11D-A289-08	2970033	155161799	94088822	2	31805											
SEC16B	89866	broad.mit.edu	37	1	177936856	177936856	+	Silent	SNP	G	G	A			TCGA-P5-A5F0-01A-11D-A289-08	TCGA-P5-A5F0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edcbd6b-d64f-453b-8e9e-c1fbf6d99cf4	a5d89ce8-081f-4b72-993d-47b28b7bf6e3	g.chr1:177936856G>A	ENST00000308284.6	-	2	350	c.261C>T	c.(259-261)gaC>gaT	p.D87D	SEC16B_ENST00000464631.2_Silent_p.D87D|RP4-798P15.3_ENST00000354921.3_RNA	NM_033127.2	NP_149118.2	Q96JE7	SC16B_HUMAN	SEC16 homolog B (S. cerevisiae)	87	Required for endoplasmic reticulum localization.				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						CTTCGTAATAGTCAACTCCAG	0.517													7	64					0	0	1	0	0	A	177936856	G	A	177936856	2	1	357	1	0	0	0	0	0	0	0	1	14041	1020	36	2		2	SEC16B	1	177936856	Silent	SNP	G	TCGA-P5-A5F0-01A-11D-A289-08	22775057	177936856	71313765	3	31806											
NLRP3	114548	broad.mit.edu	37	1	247588165	247588165	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A5F0-01A-11D-A289-08	TCGA-P5-A5F0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edcbd6b-d64f-453b-8e9e-c1fbf6d99cf4	a5d89ce8-081f-4b72-993d-47b28b7bf6e3	g.chr1:247588165G>A	ENST00000366497.2	+	4	2200	c.1420G>A	c.(1420-1422)Gca>Aca	p.A474T	NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000348069.2_Missense_Mutation_p.A474T|NLRP3_ENST00000391827.2_Missense_Mutation_p.A474T|NLRP3_ENST00000366496.2_Missense_Mutation_p.A474T|NLRP3_ENST00000336119.3_Missense_Mutation_p.A474T|NLRP3_ENST00000391828.3_Missense_Mutation_p.A474T	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	474	NACHT.				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			CTCTTTGGCTGCAGATGGAAT	0.582													11	29					0	0	1	0	0	A	247588165	G	A	247588165	3	1	357	1	0	0	0	0	1	0	0	0	10525	1319	46	2	1430	2	NLRP3	1	247588165	Missense_Mutation	SNP	G	TCGA-P5-A5F0-01A-11D-A289-08	69651309	247588165	1662456	4	31807											
HADHA	3030	broad.mit.edu	37	2	26426943	26426943	+	Missense_Mutation	SNP	T	T	A			TCGA-P5-A5F0-01A-11D-A289-08	TCGA-P5-A5F0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edcbd6b-d64f-453b-8e9e-c1fbf6d99cf4	a5d89ce8-081f-4b72-993d-47b28b7bf6e3	g.chr2:26426943T>A	ENST00000380649.3	-	12	1337	c.1208A>T	c.(1207-1209)cAa>cTa	p.Q403L		NM_000182.4	NP_000173.2	P40939	ECHA_HUMAN	hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit	403					fatty acid beta-oxidation	fatty acid beta-oxidation multienzyme complex|mitochondrial nucleoid|nucleolus	3-hydroxyacyl-CoA dehydrogenase activity|acetyl-CoA C-acetyltransferase activity|coenzyme binding|enoyl-CoA hydratase activity|long-chain-3-hydroxyacyl-CoA dehydrogenase activity|protein binding			autonomic_ganglia(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(4)|skin(1)	30	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				NADH(DB00157)	TTTGAACACTTGTTGCTGTCC	0.483													159	313					0	0	1	0	0	A	26426943	T	A	26426943	3	1	357	1	0	0	0	0	1	0	0	0	6984	1812	63	5	1119	5	HADHA	2	26426943	Missense_Mutation	SNP	T	TCGA-P5-A5F0-01A-11D-A289-08		26426943	216772430	5	31808											
USP39	10713	broad.mit.edu	37	2	85843529	85843529	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A5F0-01A-11D-A289-08	TCGA-P5-A5F0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edcbd6b-d64f-453b-8e9e-c1fbf6d99cf4	a5d89ce8-081f-4b72-993d-47b28b7bf6e3	g.chr2:85843529C>T	ENST00000323701.6	+	1	221	c.211C>T	c.(211-213)Cgg>Tgg	p.R71W	USP39_ENST00000459775.1_Intron|USP39_ENST00000450066.2_Intron|USP39_ENST00000409470.1_Missense_Mutation_p.R71W|USP39_ENST00000409025.1_Missense_Mutation_p.R71W|USP39_ENST00000409766.3_Missense_Mutation_p.R71W	NM_006590.3	NP_006581.2	Q53GS9	SNUT2_HUMAN	ubiquitin specific peptidase 39	71	Arg-rich.				spliceosome assembly|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin thiolesterase activity|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	19						CCCGTTTGTGCGGGTGAAGCG	0.726													3	29					0	0	1	0	0	T	85843529	C	T	85843529	3	4	357	1	0	0	0	0	1	0	0	0	17130	759	27	1	213	1	USP39	2	85843529	Missense_Mutation	SNP	C	TCGA-P5-A5F0-01A-11D-A289-08	59416586	85843529	157355844	6	31809											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-P5-A5F0-01A-11D-A289-08	TCGA-P5-A5F0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edcbd6b-d64f-453b-8e9e-c1fbf6d99cf4	a5d89ce8-081f-4b72-993d-47b28b7bf6e3	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								19	43					0	0	1	0	0	T	209113112	C	T	209113112	3	4	357	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-P5-A5F0-01A-11D-A289-08	123269583	209113112	34086261	7	31810											
EPHA4	2043	broad.mit.edu	37	2	222301821	222301821	+	Missense_Mutation	SNP	G	G	T			TCGA-P5-A5F0-01A-11D-A289-08	TCGA-P5-A5F0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edcbd6b-d64f-453b-8e9e-c1fbf6d99cf4	a5d89ce8-081f-4b72-993d-47b28b7bf6e3	g.chr2:222301821G>T	ENST00000281821.2	-	12	2137	c.2096C>A	c.(2095-2097)aCa>aAa	p.T699K	EPHA4_ENST00000409854.1_Missense_Mutation_p.T699K|EPHA4_ENST00000392071.4_Missense_Mutation_p.T648K|EPHA4_ENST00000409938.1_Missense_Mutation_p.T699K	NM_004438.3	NP_004429.1	P54764	EPHA4_HUMAN	EPH receptor A4	699	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		CATGTACTCTGTTATGATCAT	0.378													33	53					3.86903e-22	4.00972e-22	1	1	0	T	222301821	G	T	222301821	3	4	357	1	0	0	0	0	1	0	0	0	5197	1377	48	5	888	5	EPHA4	2	222301821	Missense_Mutation	SNP	G	TCGA-P5-A5F0-01A-11D-A289-08	13188709	222301821	20897552	8	31811											
GPR15	2838	broad.mit.edu	37	3	98251295	98251295	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A5F0-01A-11D-A289-08	TCGA-P5-A5F0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edcbd6b-d64f-453b-8e9e-c1fbf6d99cf4	a5d89ce8-081f-4b72-993d-47b28b7bf6e3	g.chr3:98251295G>A	ENST00000284311.3	+	1	553	c.418G>A	c.(418-420)Gta>Ata	p.V140I		NM_005290.1	NP_005281.1	P49685	GPR15_HUMAN	G protein-coupled receptor 15	140						integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Lung NSC(201;7.93e-06)|all_neural(597;0.00172)|Hepatocellular(537;0.00825)|Myeloproliferative disorder(1037;0.0255)		Lung(72;0.246)		GTGGCCAGTCGTATCCAGGAA	0.522													8	62					0	0	1	0	0	A	98251295	G	A	98251295	3	1	357	1	0	0	0	0	1	0	0	0	6695	1145	40	1	420	1	GPR15	3	98251295	Missense_Mutation	SNP	G	TCGA-P5-A5F0-01A-11D-A289-08		98251295	99771135	9	31812											
CEP63	80254	broad.mit.edu	37	3	134277174	134277174	+	Missense_Mutation	SNP	A	A	T			TCGA-P5-A5F0-01A-11D-A289-08	TCGA-P5-A5F0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edcbd6b-d64f-453b-8e9e-c1fbf6d99cf4	a5d89ce8-081f-4b72-993d-47b28b7bf6e3	g.chr3:134277174A>T	ENST00000337090.3	+	13	1831	c.1658A>T	c.(1657-1659)aAg>aTg	p.K553M	CEP63_ENST00000513612.2_Missense_Mutation_p.K553M|CEP63_ENST00000383229.3_Intron|CEP63_ENST00000606977.1_Missense_Mutation_p.K553M|CEP63_ENST00000354446.3_Intron|CEP63_ENST00000332047.5_Intron			Q96MT8	CEP63_HUMAN	centrosomal protein 63kDa	553					cell division|DNA damage checkpoint|G2/M transition of mitotic cell cycle|mitosis|signal transduction in response to DNA damage|spindle assembly	centrosome|cytosol|spindle pole	protein binding			kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						ACTGAGTTCAAGAATACAGAG	0.289													9	36					0	0	1	0	0	T	134277174	A	T	134277174	3	4	357	1	0	0	0	0	1	0	0	0	3279	72	3	5	1704	5	CEP63	3	134277174	Missense_Mutation	SNP	A	TCGA-P5-A5F0-01A-11D-A289-08	36025879	134277174	63745256	10	31813											
PIK3CA	5290	broad.mit.edu	37	3	178917478	178917478	+	Splice_Site	SNP	G	G	A			TCGA-P5-A5F0-01A-11D-A289-08	TCGA-P5-A5F0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edcbd6b-d64f-453b-8e9e-c1fbf6d99cf4	a5d89ce8-081f-4b72-993d-47b28b7bf6e3	g.chr3:178917478G>A	ENST00000263967.3	+	3	510	c.353G>A	c.(352-354)gGt>gAt	p.G118D		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	118					epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.G118D(26)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TTTATTAAAGGTTTTGCTATC	0.338		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			32	38					0	0	1	0	0	A	178917478	G	A	178917478	5	1	357	1	0	0	0	0	0	0	1	0	11961	1275	44	2	359	2	PIK3CA	3	178917478	Splice_Site	SNP	G	TCGA-P5-A5F0-01A-11D-A289-08	44640304	178917478	19104952	11	31814											
TSSK1B	83942	broad.mit.edu	37	5	112770050	112770050	+	Missense_Mutation	SNP	G	G	A	rs139028259	by1000genomes	TCGA-P5-A5F0-01A-11D-A289-08	TCGA-P5-A5F0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edcbd6b-d64f-453b-8e9e-c1fbf6d99cf4	a5d89ce8-081f-4b72-993d-47b28b7bf6e3	g.chr5:112770050G>A	ENST00000390666.3	-	1	678	c.487C>T	c.(487-489)Cgg>Tgg	p.R163W	CTD-2201G3.1_ENST00000416046.2_RNA|CTD-2201G3.1_ENST00000383058.4_RNA|MCC_ENST00000408903.3_Intron	NM_032028.3	NP_114417.1	Q9BXA7	TSSK1_HUMAN	testis-specific serine kinase 1B	163	Protein kinase.				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			large_intestine(8)|ovary(2)|skin(2)|stomach(1)	13		all_cancers(142;0.0138)|all_epithelial(76;0.000445)|Colorectal(10;0.00814)|Prostate(80;0.0115)|Ovarian(225;0.156)		Epithelial(69;4.15e-08)|OV - Ovarian serous cystadenocarcinoma(64;4.49e-08)|all cancers(49;3.2e-06)|COAD - Colon adenocarcinoma(37;0.0371)|Colorectal(14;0.0449)		CTGTCATCCCGCAGGCAGCGC	0.577													4	65					0	0	1	0	0	A	112770050	G	A	112770050	3	1	357	1	0	0	0	0	1	0	0	0	16729	1086	38	1	620	1	TSSK1B	5	112770050	Missense_Mutation	SNP	G	TCGA-P5-A5F0-01A-11D-A289-08		112770050	68145210	12	31815											
SEMA6A	57556	broad.mit.edu	37	5	115813739	115813739	+	Silent	SNP	G	G	A			TCGA-P5-A5F0-01A-11D-A289-08	TCGA-P5-A5F0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edcbd6b-d64f-453b-8e9e-c1fbf6d99cf4	a5d89ce8-081f-4b72-993d-47b28b7bf6e3	g.chr5:115813739G>A	ENST00000343348.6	-	14	2326	c.1539C>T	c.(1537-1539)ggC>ggT	p.G513G	CTB-118N6.3_ENST00000508640.1_RNA|CTB-118N6.3_ENST00000510682.1_RNA|SEMA6A_ENST00000510263.1_Silent_p.G513G|CTB-118N6.3_ENST00000514214.1_RNA|SEMA6A_ENST00000282394.6_Silent_p.G45G|SEMA6A_ENST00000257414.8_Silent_p.G513G	NM_020796.3	NP_065847	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A	513					apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis	axon|integral to membrane|plasma membrane	receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)		GTTCACACCGGCCAAGGGGAA	0.463													4	158					0	0	1	0	0	A	115813739	G	A	115813739	2	1	357	1	0	0	0	0	0	0	0	1	14093	1190	42	2		2	SEMA6A	5	115813739	Silent	SNP	G	TCGA-P5-A5F0-01A-11D-A289-08	3043689	115813739	65101521	13	31816											
PCDHAC1	56135	broad.mit.edu	37	5	140306487	140306487	+	Missense_Mutation	SNP	T	T	C			TCGA-P5-A5F0-01A-11D-A289-08	TCGA-P5-A5F0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edcbd6b-d64f-453b-8e9e-c1fbf6d99cf4	a5d89ce8-081f-4b72-993d-47b28b7bf6e3	g.chr5:140306487T>C	ENST00000253807.2	+	1	10	c.10T>C	c.(10-12)Tgt>Cgt	p.C4R	PCDHA13_ENST00000289272.2_Intron|PCDHAC1_ENST00000409700.3_Missense_Mutation_p.C4R|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA3_ENST00000522353.2_Intron	NM_018898.3	NP_061721.2														NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	65			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GATGGTGGGCTGTGGGGTGGC	0.647													12	59					0	0	1	0	0	C	140306487	T	C	140306487	3	2	357	1	0	0	0	0	1	0	0	0	11579	1580	55	3	12	3	PCDHAC1	5	140306487	Missense_Mutation	SNP	T	TCGA-P5-A5F0-01A-11D-A289-08	24492748	140306487	40608773	14	31817											
HIST1H3G	8355	broad.mit.edu	37	6	26271605	26271605	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A5F0-01A-11D-A289-08	TCGA-P5-A5F0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edcbd6b-d64f-453b-8e9e-c1fbf6d99cf4	a5d89ce8-081f-4b72-993d-47b28b7bf6e3	g.chr6:26271605C>T	ENST00000305910.3	-	1	7	c.8G>A	c.(7-9)cGc>cAc	p.R3H		NM_003534.2	NP_003525.1	P68431	H31_HUMAN	histone cluster 1, H3g	3					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	12						CTGCTTGGTGCGGGCCATCTC	0.562													4	63					0	0	1	0	0	T	26271605	C	T	26271605	3	4	357	1	0	0	0	0	1	0	0	0	7202	768	27	1	406	1	HIST1H3G	6	26271605	Missense_Mutation	SNP	C	TCGA-P5-A5F0-01A-11D-A289-08		26271605	144843462	15	31818											
UTRN	7402	broad.mit.edu	37	6	144835787	144835787	+	Splice_Site	SNP	G	G	T			TCGA-P5-A5F0-01A-11D-A289-08	TCGA-P5-A5F0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edcbd6b-d64f-453b-8e9e-c1fbf6d99cf4	a5d89ce8-081f-4b72-993d-47b28b7bf6e3	g.chr6:144835787G>T	ENST00000367545.3	+	36	5075	c.5075G>T	c.(5074-5076)cGt>cTt	p.R1692L		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	1692	Interaction with SYNM.				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		TATAATTAGCGTTTAGTATCT	0.388													11	108					3.07112e-06	3.07112e-06	1	1	0	T	144835787	G	T	144835787	5	4	357	1	0	0	0	0	0	0	1	0	17163	1159	40	5	5217	5	UTRN	6	144835787	Splice_Site	SNP	G	TCGA-P5-A5F0-01A-11D-A289-08	118564182	144835787	26279280	16	31819											
PSPH	5723	broad.mit.edu	37	7	56084931	56084931	+	Missense_Mutation	SNP	A	A	C			TCGA-P5-A5F0-01A-11D-A289-08	TCGA-P5-A5F0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edcbd6b-d64f-453b-8e9e-c1fbf6d99cf4	a5d89ce8-081f-4b72-993d-47b28b7bf6e3	g.chr7:56084931A>C	ENST00000395471.3	-	6	1222	c.417T>G	c.(415-417)ttT>ttG	p.F139L	PSPH_ENST00000275605.3_Missense_Mutation_p.F139L|PSPH_ENST00000459834.1_Intron			P78330	SERB_HUMAN	phosphoserine phosphatase	139					L-serine biosynthetic process	cytoplasm	calcium ion binding|magnesium ion binding|phosphoserine phosphatase activity|protein homodimerization activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(1)|skin(1)	11	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			TCTTACCGTTAAAGTAGAATT	0.383													38	31					0	0	1	0	0	C	56084931	A	C	56084931	3	2	357	1	0	0	0	0	1	0	0	0	12766	359	13	5	272	5	PSPH	7	56084931	Missense_Mutation	SNP	A	TCGA-P5-A5F0-01A-11D-A289-08		56084931	103053732	17	31820											
GNAI1	2770	broad.mit.edu	37	7	79842082	79842082	+	Missense_Mutation	SNP	G	G	C			TCGA-P5-A5F0-01A-11D-A289-08	TCGA-P5-A5F0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edcbd6b-d64f-453b-8e9e-c1fbf6d99cf4	a5d89ce8-081f-4b72-993d-47b28b7bf6e3	g.chr7:79842082G>C	ENST00000351004.3	+	7	1144	c.771G>C	c.(769-771)aaG>aaC	p.K257N	GNAI1_ENST00000457358.2_Missense_Mutation_p.K205N	NM_002069.5	NP_002060.4	P63096	GNAI1_HUMAN	guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 1	257					cell cycle|cell division|inhibition of adenylate cyclase activity by G-protein signaling pathway|platelet activation|synaptic transmission	centrosome|heterotrimeric G-protein complex|midbody|nucleus	G-protein beta/gamma-subunit complex binding|GTP binding|metabotropic serotonin receptor binding|signal transducer activity			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	19						GTAACAACAAGTGGTTTACAG	0.323													4	79					0	0	1	0	0	C	79842082	G	C	79842082	3	2	357	1	0	0	0	0	1	0	0	0	6546	1020	36	4	797	4	GNAI1	7	79842082	Missense_Mutation	SNP	G	TCGA-P5-A5F0-01A-11D-A289-08	23757151	79842082	79296581	18	31821											
PKN3	29941	broad.mit.edu	37	9	131479035	131479035	+	Missense_Mutation	SNP	C	C	G			TCGA-P5-A5F0-01A-11D-A289-08	TCGA-P5-A5F0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edcbd6b-d64f-453b-8e9e-c1fbf6d99cf4	a5d89ce8-081f-4b72-993d-47b28b7bf6e3	g.chr9:131479035C>G	ENST00000291906.4	+	16	2211	c.1818C>G	c.(1816-1818)tgC>tgG	p.C606W	PKN3_ENST00000485301.1_3'UTR	NM_013355.3	NP_037487.2	Q6P5Z2	PKN3_HUMAN	protein kinase N3	606	Protein kinase.				signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm	ATP binding|protein binding|protein kinase C activity			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24						GCCTGTACTGCGAGAAGCGGA	0.602													16	150					0	0	1	0	0	G	131479035	C	G	131479035	3	3	357	1	0	0	0	0	1	0	0	0	12029	776	27	5	1880	5	PKN3	9	131479035	Missense_Mutation	SNP	C	TCGA-P5-A5F0-01A-11D-A289-08		131479035	9734396	19	31822											
NOTCH1	4851	broad.mit.edu	37	9	139412283	139412285	+	In_Frame_Del	DEL	GTT	GTT	-			TCGA-P5-A5F0-01A-11D-A289-08	TCGA-P5-A5F0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edcbd6b-d64f-453b-8e9e-c1fbf6d99cf4	a5d89ce8-081f-4b72-993d-47b28b7bf6e3	g.chr9:139412283_139412285delGTT	ENST00000277541.6	-	8	1435_1437	c.1360_1362delAAC	c.(1360-1362)aacdel	p.N454del		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	454	EGF-like 12; calcium-binding (Potential).				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	p.N454delN(2)		breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		AGACGCACTCGTTGACGTCGATC	0.66			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			13	113	---	---	---	---						-	139412285	GTT	-	139412283	7	5	357	1	0	1	0	1	0	0	0	0	10594	1136	40	0	6413	0	NOTCH1	9	139412283	In_Frame_Del	DEL	GTT	TCGA-P5-A5F0-01A-11D-A289-08	7933248	139412283	1801148	20	31823											
ITIH5	80760	broad.mit.edu	37	10	7679258	7679258	+	Silent	SNP	C	C	T			TCGA-P5-A5F0-01A-11D-A289-08	TCGA-P5-A5F0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edcbd6b-d64f-453b-8e9e-c1fbf6d99cf4	a5d89ce8-081f-4b72-993d-47b28b7bf6e3	g.chr10:7679258C>T	ENST00000256861.6	-	5	663	c.585G>A	c.(583-585)gcG>gcA	p.A195A	ITIH5_ENST00000446830.2_5'UTR|ITIH5_ENST00000434980.1_5'UTR|ITIH5_ENST00000397146.2_Silent_p.A195A|ITIH5_ENST00000397145.2_Silent_p.A195A	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	195					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						ATGCGATGCCCGCGCTCTCCA	0.657													61	120					0	0	1	0	0	T	7679258	C	T	7679258	2	4	357	1	0	0	0	0	0	0	0	1	7951	639	23	1		1	ITIH5	10	7679258	Silent	SNP	C	TCGA-P5-A5F0-01A-11D-A289-08		7679258	127855489	21	31824											
TEAD1	7003	broad.mit.edu	37	11	12883803	12883803	+	Missense_Mutation	SNP	A	A	G			TCGA-P5-A5F0-01A-11D-A289-08	TCGA-P5-A5F0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edcbd6b-d64f-453b-8e9e-c1fbf6d99cf4	a5d89ce8-081f-4b72-993d-47b28b7bf6e3	g.chr11:12883803A>G	ENST00000361905.4	+	4	829	c.164A>G	c.(163-165)aAt>aGt	p.N55S	TEAD1_ENST00000334310.6_Missense_Mutation_p.N55S|TEAD1_ENST00000361985.2_Missense_Mutation_p.N70S|TEAD1_ENST00000527636.1_Missense_Mutation_p.N70S|TEAD1_ENST00000527575.1_Missense_Mutation_p.N70S	NM_021961.5	NP_068780.2	P28347	TEAD1_HUMAN	TEA domain family member 1 (SV40 transcriptional enhancer factor)	70					hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)	17				Epithelial(150;0.00223)|BRCA - Breast invasive adenocarcinoma(625;0.236)		TCAGGTAGGAATGAATTGATA	0.403													5	54					0	0	1	0	0	G	12883803	A	G	12883803	3	3	357	1	0	0	0	0	1	0	0	0	15797	101	4	3	215	3	TEAD1	11	12883803	Missense_Mutation	SNP	A	TCGA-P5-A5F0-01A-11D-A289-08		12883803	122122713	22	31825											
OR4C16	219428	broad.mit.edu	37	11	55339694	55339694	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A5F0-01A-11D-A289-08	TCGA-P5-A5F0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edcbd6b-d64f-453b-8e9e-c1fbf6d99cf4	a5d89ce8-081f-4b72-993d-47b28b7bf6e3	g.chr11:55339694C>T	ENST00000314634.3	+	1	91	c.91C>T	c.(91-93)Cgt>Tgt	p.R31C		NM_001004701.2	NP_001004701.2	Q8NGL9	OR4CG_HUMAN	olfactory receptor, family 4, subfamily C, member 16 (gene/pseudogene)	31					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41		all_epithelial(135;0.0748)				TATTTTTTTGCGTCTCTACTT	0.373													47	87					0	0	1	0	0	T	55339694	C	T	55339694	3	4	357	1	0	0	0	0	1	0	0	0	11097	768	27	1	93	1	OR4C16	11	55339694	Missense_Mutation	SNP	C	TCGA-P5-A5F0-01A-11D-A289-08	42455891	55339694	79666822	23	31826											
MMP10	4319	broad.mit.edu	37	11	102649942	102649942	+	Splice_Site	SNP	A	A	G			TCGA-P5-A5F0-01A-11D-A289-08	TCGA-P5-A5F0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edcbd6b-d64f-453b-8e9e-c1fbf6d99cf4	a5d89ce8-081f-4b72-993d-47b28b7bf6e3	g.chr11:102649942A>G	ENST00000279441.4	-	3	533		c.e3+1			NM_002425.2	NP_002416.1	P09238	MMP10_HUMAN	matrix metallopeptidase 10 (stromelysin 2)						collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|liver(2)|lung(6)	22	all_epithelial(12;0.00961)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0303)|Lung(13;0.0828)|all cancers(10;0.116)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0145)		TTATTTGATTACCTTTAACTG	0.373													5	109					0	0	1	0	0	G	102649942	A	G	102649942	5	3	357	1	0	0	0	0	0	0	1	0	9697	405	14	3	964	3	MMP10	11	102649942	Splice_Site	SNP	A	TCGA-P5-A5F0-01A-11D-A289-08	47310248	102649942	32356574	24	31827											
POU2AF1	5450	broad.mit.edu	37	11	111229622	111229622	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A5F0-01A-11D-A289-08	TCGA-P5-A5F0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edcbd6b-d64f-453b-8e9e-c1fbf6d99cf4	a5d89ce8-081f-4b72-993d-47b28b7bf6e3	g.chr11:111229622G>A	ENST00000393067.3	-	2	552	c.38C>T	c.(37-39)cCa>cTa	p.P13L		NM_006235.2	NP_006226.2	Q16633	OBF1_HUMAN	POU class 2 associating factor 1	13					humoral immune response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity			breast(1)|kidney(2)|lung(2)	5		all_cancers(61;1.36e-12)|all_epithelial(67;1.87e-07)|Melanoma(852;1.46e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|all_neural(223;0.0146)|Medulloblastoma(222;0.0245)|Breast(348;0.0389)		Epithelial(105;1.01e-06)|BRCA - Breast invasive adenocarcinoma(274;3.12e-06)|all cancers(92;1.8e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0364)		GGCCGGGGCTGGGGCTTGCTC	0.632			T	BCL6	NHL								18	28					0	0	1	0	0	A	111229622	G	A	111229622	3	1	357	1	0	0	0	0	1	0	0	0	12316	1348	47	2	748	2	POU2AF1	11	111229622	Missense_Mutation	SNP	G	TCGA-P5-A5F0-01A-11D-A289-08	8579680	111229622	23776894	25	31828											
CD163L1	283316	broad.mit.edu	37	12	7526163	7526163	+	Silent	SNP	G	G	A			TCGA-P5-A5F0-01A-11D-A289-08	TCGA-P5-A5F0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edcbd6b-d64f-453b-8e9e-c1fbf6d99cf4	a5d89ce8-081f-4b72-993d-47b28b7bf6e3	g.chr12:7526163G>A	ENST00000313599.3	-	14	3540	c.3483C>T	c.(3481-3483)aaC>aaT	p.N1161N	CD163L1_ENST00000396630.1_Silent_p.N1161N|CD163L1_ENST00000416109.2_Silent_p.N1171N			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	1161	SRCR 11.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						CCCAGGTCCCGTTATAGAAGA	0.512													9	301					0	0	1	0	0	A	7526163	G	A	7526163	2	1	357	1	0	0	0	0	0	0	0	1	2990	1136	40	1		1	CD163L1	12	7526163	Silent	SNP	G	TCGA-P5-A5F0-01A-11D-A289-08		7526163	126325732	26	31829											
A2ML1	144568	broad.mit.edu	37	12	8976368	8976368	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A5F0-01A-11D-A289-08	TCGA-P5-A5F0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edcbd6b-d64f-453b-8e9e-c1fbf6d99cf4	a5d89ce8-081f-4b72-993d-47b28b7bf6e3	g.chr12:8976368G>A	ENST00000299698.7	+	3	479	c.299G>A	c.(298-300)gGa>gAa	p.G100E	A2ML1-AS1_ENST00000537288.1_RNA	NM_001282424.1|NM_144670.4	NP_001269353.1|NP_653271	B3KVV6	B3KVV6_HUMAN	alpha-2-macroglobulin-like 1	0						extracellular space	endopeptidase inhibitor activity			NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						CGGGTGTCGGGAGTTGGAAAT	0.527													75	121					0	0	1	0	0	A	8976368	G	A	8976368	3	1	357	1	0	0	0	0	1	0	0	0	5	1174	41	2	309	2	A2ML1	12	8976368	Missense_Mutation	SNP	G	TCGA-P5-A5F0-01A-11D-A289-08	1450205	8976368	124875527	27	31830											
SPATA13	221178	broad.mit.edu	37	13	24858319	24858319	+	Missense_Mutation	SNP	C	C	G			TCGA-P5-A5F0-01A-11D-A289-08	TCGA-P5-A5F0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edcbd6b-d64f-453b-8e9e-c1fbf6d99cf4	a5d89ce8-081f-4b72-993d-47b28b7bf6e3	g.chr13:24858319C>G	ENST00000424834.2	+	7	2684	c.2211C>G	c.(2209-2211)aaC>aaG	p.N737K	RP11-307N16.6_ENST00000382141.4_Missense_Mutation_p.N615K|SPATA13_ENST00000382108.3_Missense_Mutation_p.N737K|SPATA13_ENST00000343003.6_Missense_Mutation_p.N56K|SPATA13_ENST00000409126.1_Missense_Mutation_p.N34K|SPATA13_ENST00000382095.4_Missense_Mutation_p.N112K|SPATA13_ENST00000399949.2_Missense_Mutation_p.N34K			Q96N96	SPT13_HUMAN	spermatogenesis associated 13	112					cell migration|filopodium assembly|lamellipodium assembly|regulation of cell migration|regulation of Rho protein signal transduction	cytoplasm|filopodium|lamellipodium|ruffle membrane	protein binding|Rac guanyl-nucleotide exchange factor activity			breast(4)|endometrium(2)|large_intestine(9)|lung(4)|ovary(1)|prostate(1)|skin(2)	23		all_cancers(29;4.05e-15)|all_lung(29;2.77e-14)|all_epithelial(30;7.77e-13)|Lung SC(185;0.0279)		all cancers(112;0.00616)|Epithelial(112;0.0195)|OV - Ovarian serous cystadenocarcinoma(117;0.0705)|Lung(94;0.231)		TGGATGACAACGgtagtgagg	0.493													19	12					0	0	1	0	0	G	24858319	C	G	24858319	3	3	357	1	0	0	0	0	1	0	0	0	15056	535	19	5	2225	5	SPATA13	13	24858319	Missense_Mutation	SNP	C	TCGA-P5-A5F0-01A-11D-A289-08		24858319	90311559	28	31831											
USP8	9101	broad.mit.edu	37	15	50769066	50769066	+	Silent	SNP	G	G	C			TCGA-P5-A5F0-01A-11D-A289-08	TCGA-P5-A5F0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edcbd6b-d64f-453b-8e9e-c1fbf6d99cf4	a5d89ce8-081f-4b72-993d-47b28b7bf6e3	g.chr15:50769066G>C	ENST00000433963.1	+	10	1370	c.870G>C	c.(868-870)ctG>ctC	p.L290L	USP8_ENST00000307179.4_Silent_p.L290L|USP8_ENST00000425032.3_Silent_p.L213L|USP8_ENST00000396444.3_Silent_p.L290L			P40818	UBP8_HUMAN	ubiquitin specific peptidase 8	290	Rhodanese.				cell cycle|cell proliferation|endosome organization|protein K48-linked deubiquitination|protein K63-linked deubiquitination|ubiquitin-dependent protein catabolic process	cytosol|early endosome|extrinsic to plasma membrane|nucleus	cysteine-type endopeptidase activity|SH3 domain binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)		AAACTGTCCTGCGCAATGAGC	0.393													29	67					0	0	1	0	0	C	50769066	G	C	50769066	2	2	357	1	0	0	0	0	0	0	0	1	17149	1306	46	5		5	USP8	15	50769066	Silent	SNP	G	TCGA-P5-A5F0-01A-11D-A289-08		50769066	51762326	29	31832											
PLK1	5347	broad.mit.edu	37	16	23695207	23695207	+	Missense_Mutation	SNP	C	C	G			TCGA-P5-A5F0-01A-11D-A289-08	TCGA-P5-A5F0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edcbd6b-d64f-453b-8e9e-c1fbf6d99cf4	a5d89ce8-081f-4b72-993d-47b28b7bf6e3	g.chr16:23695207C>G	ENST00000300093.4	+	5	944	c.833C>G	c.(832-834)gCc>gGc	p.A278G		NM_005030.3	NP_005021.2	P53350	PLK1_HUMAN	polo-like kinase 1	278	Protein kinase.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|G2/M transition DNA damage checkpoint|G2/M transition of mitotic cell cycle|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic prophase|negative regulation of cyclin-dependent protein kinase activity|peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|protein localization to chromatin|protein ubiquitination|regulation of mitotic anaphase|regulation of protein binding	centrosome|condensed nuclear chromosome outer kinetochore|cytosol|nucleoplasm|spindle microtubule|spindle midzone|spindle pole	anaphase-promoting complex binding|ATP binding|polo kinase kinase activity|protein kinase binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				GBM - Glioblastoma multiforme(48;0.0156)		AACCCCGTGGCCGCCTCCCTC	0.557													53	494					0	0	1	0	0	G	23695207	C	G	23695207	3	3	357	1	0	0	0	0	1	0	0	0	12142	739	26	5	851	5	PLK1	16	23695207	Missense_Mutation	SNP	C	TCGA-P5-A5F0-01A-11D-A289-08		23695207	66659546	30	31833											
PKD1L2	114780	broad.mit.edu	37	16	81155068	81155069	+	RNA	INS	-	-	A			TCGA-P5-A5F0-01A-11D-A289-08	TCGA-P5-A5F0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edcbd6b-d64f-453b-8e9e-c1fbf6d99cf4	a5d89ce8-081f-4b72-993d-47b28b7bf6e3	g.chr16:81155068_81155069insA	ENST00000525539.1	-	0	6611				PKD1L2_ENST00000534142.1_RNA|PKD1L2_ENST00000533478.1_RNA	NM_052892.3	NP_443124.3	Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						gactccatctcaaaaaaaaaaa	0.525													2	4	---	---	---	---						A	81155069	-	A	81155068	6	5	357	0	1	1	1	0	0	0	0	0	12013	841	29	0		0	PKD1L2	16	81155068	RNA	INS	-	TCGA-P5-A5F0-01A-11D-A289-08	57459861	81155068	9199685	31	31834											
NACA2	342538	broad.mit.edu	37	17	59668211	59668211	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A5F0-01A-11D-A289-08	TCGA-P5-A5F0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edcbd6b-d64f-453b-8e9e-c1fbf6d99cf4	a5d89ce8-081f-4b72-993d-47b28b7bf6e3	g.chr17:59668211C>T	ENST00000521764.1	-	1	352	c.331G>A	c.(331-333)Gtc>Atc	p.V111I		NM_199290.3	NP_954984.1	Q9H009	NACA2_HUMAN	nascent polypeptide-associated complex alpha subunit 2	111	NAC-A/B.				protein transport	cytoplasm|nucleus				large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	12	all_epithelial(1;3.12e-14)					CTCTTGTAGACGTCCAGTTTT	0.443													80	198					0	0	1	0	0	T	59668211	C	T	59668211	3	4	357	1	0	0	0	0	1	0	0	0	10182	536	19	1	320	1	NACA2	17	59668211	Missense_Mutation	SNP	C	TCGA-P5-A5F0-01A-11D-A289-08		59668211	21526999	32	31835											
GRAMD1A	57655	broad.mit.edu	37	19	35504508	35504508	+	Silent	SNP	C	C	T			TCGA-P5-A5F0-01A-11D-A289-08	TCGA-P5-A5F0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edcbd6b-d64f-453b-8e9e-c1fbf6d99cf4	a5d89ce8-081f-4b72-993d-47b28b7bf6e3	g.chr19:35504508C>T	ENST00000599564.1	+	10	1115	c.1044C>T	c.(1042-1044)gaC>gaT	p.D348D	GRAMD1A_ENST00000317991.5_Silent_p.D261D|GRAMD1A_ENST00000411896.2_Silent_p.D254D|GRAMD1A_ENST00000504615.2_Silent_p.D27D			Q96CP6	GRM1A_HUMAN	GRAM domain containing 1A	261						integral to membrane				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	19	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			GGGCAGCTGACCGCAGCCAGG	0.662													26	24					0	0	1	0	0	T	35504508	C	T	35504508	2	4	357	1	0	0	0	0	0	0	0	1	6788	506	18	2		2	GRAMD1A	19	35504508	Silent	SNP	C	TCGA-P5-A5F0-01A-11D-A289-08		35504508	23624475	33	31836											
CIC	23152	broad.mit.edu	37	19	42791828	42791828	+	Nonsense_Mutation	SNP	G	G	A			TCGA-P5-A5F0-01A-11D-A289-08	TCGA-P5-A5F0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edcbd6b-d64f-453b-8e9e-c1fbf6d99cf4	a5d89ce8-081f-4b72-993d-47b28b7bf6e3	g.chr19:42791828G>A	ENST00000572681.2	+	6	3509	c.3441G>A	c.(3439-3441)tgG>tgA	p.W1147*	CIC_ENST00000575354.2_Nonsense_Mutation_p.W238*|CIC_ENST00000160740.3_Nonsense_Mutation_p.W238*			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	238	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				GCGAGTGGTGGTATGCCCTGG	0.617			"Mis, F, S"		oligodendroglioma								32	47					0	0	1	0	0	A	42791828	G	A	42791828	4	1	357	1	0	0	0	0	0	1	0	0	3446	1270	44	2	732	2	CIC	19	42791828	Nonsense_Mutation	SNP	G	TCGA-P5-A5F0-01A-11D-A289-08	7287320	42791828	16337155	34	31837			1	39		3	3	5052	N	G_C_A	2.120113e-05
CIC	23152	broad.mit.edu	37	19	42795615	42795615	+	Frame_Shift_Del	DEL	A	A	-			TCGA-P5-A5F0-01A-11D-A289-08	TCGA-P5-A5F0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edcbd6b-d64f-453b-8e9e-c1fbf6d99cf4	a5d89ce8-081f-4b72-993d-47b28b7bf6e3	g.chr19:42795615delA	ENST00000572681.2	+	11	5490	c.5422delA	c.(5422-5424)aaafs	p.K1808fs	CIC_ENST00000160740.3_Frame_Shift_Del_p.K899fs|CIC_ENST00000575354.2_Frame_Shift_Del_p.K899fs			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	899					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CCCACCCCCCAAAGGTGAGAC	0.617			"Mis, F, S"		oligodendroglioma								18	120	---	---	---	---						-	42795615	A	-	42795615	7	5	357	1	0	1	0	1	0	0	0	0	3446	131	5	0	2733	0	CIC	19	42795615	Frame_Shift_Del	DEL	A	TCGA-P5-A5F0-01A-11D-A289-08	3787	42795615	16333368	35	31838			1	39		3	3	5052	N	G_C_A	2.120113e-05
CIC	23152	broad.mit.edu	37	19	42796879	42796879	+	Nonsense_Mutation	SNP	C	C	T			TCGA-P5-A5F0-01A-11D-A289-08	TCGA-P5-A5F0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edcbd6b-d64f-453b-8e9e-c1fbf6d99cf4	a5d89ce8-081f-4b72-993d-47b28b7bf6e3	g.chr19:42796879C>T	ENST00000572681.2	+	15	6129	c.6061C>T	c.(6061-6063)Cag>Tag	p.Q2021*	CIC_ENST00000575354.2_Nonsense_Mutation_p.Q1113*|CIC_ENST00000160740.3_Nonsense_Mutation_p.Q1112*			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	1113					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CCAGCCATCCCAGGCCCCCCC	0.682			"Mis, F, S"		oligodendroglioma								6	79					0	0	1	0	0	T	42796879	C	T	42796879	4	4	357	1	0	0	0	0	0	1	0	0	3446	595	21	2	3391	2	CIC	19	42796879	Nonsense_Mutation	SNP	C	TCGA-P5-A5F0-01A-11D-A289-08	1264	42796879	16332104	36	31839			1	39		3	3	5052	N	G_C_A	2.120113e-05
ZNF285	26974	broad.mit.edu	37	19	44892085	44892085	+	Missense_Mutation	SNP	T	T	A	rs79240579	by1000genomes	TCGA-P5-A5F0-01A-11D-A289-08	TCGA-P5-A5F0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edcbd6b-d64f-453b-8e9e-c1fbf6d99cf4	a5d89ce8-081f-4b72-993d-47b28b7bf6e3	g.chr19:44892085T>A	ENST00000330997.4	-	4	386	c.322A>T	c.(322-324)Agt>Tgt	p.S108C	ZNF285_ENST00000544719.2_Missense_Mutation_p.S108C|ZNF285_ENST00000591679.1_Missense_Mutation_p.S115C|CTC-512J12.6_ENST00000588212.1_Intron	NM_152354.3	NP_689567.3			zinc finger protein 285											breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						CACTCTTCACTGAGGGAAACA	0.393													4	84					0	0	1	0	0	A	44892085	T	A	44892085	3	1	357	1	0	0	0	0	1	0	0	0	17880	1580	55	5	1454	5	ZNF285	19	44892085	Missense_Mutation	SNP	T	TCGA-P5-A5F0-01A-11D-A289-08	2095206	44892085	14236898	37	31840											
FGF21	26291	broad.mit.edu	37	19	49261318	49261318	+	Silent	SNP	A	A	C			TCGA-P5-A5F0-01A-11D-A289-08	TCGA-P5-A5F0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edcbd6b-d64f-453b-8e9e-c1fbf6d99cf4	a5d89ce8-081f-4b72-993d-47b28b7bf6e3	g.chr19:49261318A>C	ENST00000593756.1	+	4	1043	c.471A>C	c.(469-471)gcA>gcC	p.A157A	FGF21_ENST00000222157.3_Silent_p.A157A			Q9NSA1	FGF21_HUMAN	fibroblast growth factor 21	157					cell-cell signaling|positive regulation of ERK1 and ERK2 cascade|positive regulation of glucose import	extracellular region|soluble fraction	growth factor activity			breast(1)|cervix(2)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	8		all_lung(116;1.7e-06)|all_epithelial(76;3.52e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000348)|Epithelial(262;0.019)|GBM - Glioblastoma multiforme(486;0.022)		GGGACCCTGCACCCCGAGGAC	0.682													12	42					0	0	1	0	0	C	49261318	A	C	49261318	2	2	357	1	0	0	0	0	0	0	0	1	5883	146	6	5		5	FGF21	19	49261318	Silent	SNP	A	TCGA-P5-A5F0-01A-11D-A289-08	4369233	49261318	9867665	38	31841											
CCT8L2	150160	broad.mit.edu	37	22	17072572	17072576	+	Frame_Shift_Del	DEL	ATTCC	ATTCC	-			TCGA-P5-A5F0-01A-11D-A289-08	TCGA-P5-A5F0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edcbd6b-d64f-453b-8e9e-c1fbf6d99cf4	a5d89ce8-081f-4b72-993d-47b28b7bf6e3	g.chr22:17072572_17072576delATTCC	ENST00000359963.3	-	1	1124_1128	c.865_869delGGAAT	c.(865-870)ggaattfs	p.GI289fs		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	289					cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity			breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				TGCCACATTAATTCCTGCAGCTGCT	0.507													16	278	---	---	---	---						-	17072576	ATTCC	-	17072572	7	5	357	1	0	1	0	1	0	0	0	0	2983	101	4	0	808	0	CCT8L2	22	17072572	Frame_Shift_Del	DEL	ATTCC	TCGA-P5-A5F0-01A-11D-A289-08		17072572	34231994	39	31842											
ZFX	7543	broad.mit.edu	37	X	24229107	24229109	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-P5-A5F0-01A-11D-A289-08	TCGA-P5-A5F0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edcbd6b-d64f-453b-8e9e-c1fbf6d99cf4	a5d89ce8-081f-4b72-993d-47b28b7bf6e3	g.chrX:24229107_24229109delAAG	ENST00000379177.1	+	11	2459_2461	c.2032_2034delAAG	c.(2032-2034)aagdel	p.K679del	ZFX_ENST00000540034.1_In_Frame_Del_p.K718del|ZFX_ENST00000539115.1_In_Frame_Del_p.K450del|ZFX_ENST00000379188.3_In_Frame_Del_p.K679del|ZFX_ENST00000338565.3_In_Frame_Del_p.K629del|ZFX_ENST00000304543.5_In_Frame_Del_p.K679del	NM_001178085.1|NM_003410.3	NP_001171556.1|NP_003401.2	P17010	ZFX_HUMAN	zinc finger protein, X-linked	679					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|prostate(1)	24						TTCAGAACTCAAGAAACACGTGG	0.424													15	52	---	---	---	---						-	24229109	AAG	-	24229107	7	5	357	1	0	1	0	1	0	0	0	0	17719	131	5	0	2117	0	ZFX	23	24229107	In_Frame_Del	DEL	AAG	TCGA-P5-A5F0-01A-11D-A289-08		24229107	131041453	40	31843											
CR1	1378	broad.mit.edu	37	1	207679428	207679428	+	Splice_Site	SNP	C	C	T			TCGA-P5-A5F1-01A-11D-A289-08	TCGA-P5-A5F1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f0a2f-39d4-4860-84b8-3c17e94a5fc7	30685d26-2709-4406-8937-9c326bf8164e	g.chr1:207679428C>T	ENST00000367049.4	+	2	301	c.301C>T	c.(301-303)Cgt>Tgt	p.R101C	CR1_ENST00000400960.2_Splice_Site_p.R101C|CR1_ENST00000367050.4_3'UTR|CR1_ENST00000367052.1_Splice_Site_p.R101C|CR1_ENST00000367053.1_Splice_Site_p.R101C|CR1_ENST00000367051.1_Splice_Site_p.R101C	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	101	Sushi 1.				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						CAGGTGCAGACGTAAGTAACT	0.418													10	117					0	0	1	0	0	T	207679428	C	T	207679428	5	4	358	1	0	0	0	0	0	0	1	0	3863	550	19	1	307	1	CR1	1	207679428	Splice_Site	SNP	C	TCGA-P5-A5F1-01A-11D-A289-08		207679428	41571193	1	31844											
HTRA2	27429	broad.mit.edu	37	2	74757185	74757186	+	Frame_Shift_Ins	INS	-	-	G			TCGA-P5-A5F1-01A-11D-A289-08	TCGA-P5-A5F1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f0a2f-39d4-4860-84b8-3c17e94a5fc7	30685d26-2709-4406-8937-9c326bf8164e	g.chr2:74757185_74757186insG	ENST00000258080.3	+	1	682_683	c.52_53insG	c.(52-54)cggfs	p.R18fs	HTRA2_ENST00000467961.1_Intron|HTRA2_ENST00000352222.3_Frame_Shift_Ins_p.R18fs	NM_013247.4	NP_037379.1	O43464	HTRA2_HUMAN	HtrA serine peptidase 2	18					apoptosis|proteolysis|response to stress	CD40 receptor complex|endoplasmic reticulum membrane|internal side of plasma membrane|mitochondrial intermembrane space|mitochondrial membrane|nucleus	serine-type endopeptidase activity|unfolded protein binding			endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	12						TCGGGCATGGCGGGCTTTGGGG	0.718													11	139	---	---	---	---						G	74757186	-	G	74757185	7	5	358	1	0	1	1	0	0	0	0	0	7498	759	27	0	54	0	HTRA2	2	74757185	Frame_Shift_Ins	INS	-	TCGA-P5-A5F1-01A-11D-A289-08		74757185	168442188	2	31845											
TTN	7273	broad.mit.edu	37	2	179412203	179412203	+	Missense_Mutation	SNP	T	T	G			TCGA-P5-A5F1-01A-11D-A289-08	TCGA-P5-A5F1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f0a2f-39d4-4860-84b8-3c17e94a5fc7	30685d26-2709-4406-8937-9c326bf8164e	g.chr2:179412203T>G	ENST00000589042.1	-	339	94374	c.94150A>C	c.(94150-94152)Agt>Cgt	p.S31384R	TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.S22511R|TTN_ENST00000591111.1_Missense_Mutation_p.S29743R|TTN_ENST00000460472.2_Missense_Mutation_p.S22319R|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.S22444R|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S28816R|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	29743	Fibronectin type-III 129.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCTCTGAACTGACACGGAAA	0.383													5	12					0	0	1	0	0	G	179412203	T	G	179412203	3	3	358	1	0	0	0	0	1	0	0	0	16797	1580	55	5	13925	5	TTN	2	179412203	Missense_Mutation	SNP	T	TCGA-P5-A5F1-01A-11D-A289-08	104655018	179412203	63787170	3	31846											
RAPH1	65059	broad.mit.edu	37	2	204304519	204304519	+	Missense_Mutation	SNP	G	G	A	rs146219972	byFrequency	TCGA-P5-A5F1-01A-11D-A289-08	TCGA-P5-A5F1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f0a2f-39d4-4860-84b8-3c17e94a5fc7	30685d26-2709-4406-8937-9c326bf8164e	g.chr2:204304519G>A	ENST00000319170.5	-	14	3693	c.3394C>T	c.(3394-3396)Cgc>Tgc	p.R1132C	RAPH1_ENST00000374493.3_Missense_Mutation_p.R1184C|ABI2_ENST00000295851.5_3'UTR|RAPH1_ENST00000457812.1_Intron	NM_213589.1	NP_998754.1	Q70E73	RAPH1_HUMAN	Ras association (RalGDS/AF-6) and pleckstrin homology domains 1	1132					cell-matrix adhesion|signal transduction	cytoplasm|cytoskeleton|filopodium|lamellipodium|nucleus|plasma membrane				breast(5)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TGAGTGAGGCGGGTGCTATCA	0.517													44	54					0	0	1	0	0	A	204304519	G	A	204304519	3	1	358	1	0	0	0	0	1	0	0	0	13102	1116	39	1	362	1	RAPH1	2	204304519	Missense_Mutation	SNP	G	TCGA-P5-A5F1-01A-11D-A289-08	24892316	204304519	38894854	4	31847											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-P5-A5F1-01A-11D-A289-08	TCGA-P5-A5F1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f0a2f-39d4-4860-84b8-3c17e94a5fc7	30685d26-2709-4406-8937-9c326bf8164e	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								22	45					0	0	1	0	0	T	209113112	C	T	209113112	3	4	358	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-P5-A5F1-01A-11D-A289-08	4808593	209113112	34086261	5	31848											
MAGI1	9223	broad.mit.edu	37	3	65346835	65346835	+	Missense_Mutation	SNP	T	T	C			TCGA-P5-A5F1-01A-11D-A289-08	TCGA-P5-A5F1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f0a2f-39d4-4860-84b8-3c17e94a5fc7	30685d26-2709-4406-8937-9c326bf8164e	g.chr3:65346835T>C	ENST00000483466.1	-	23	4001	c.3760A>G	c.(3760-3762)Atg>Gtg	p.M1254V	MAGI1_ENST00000330909.8_Intron|MAGI1_ENST00000497477.2_Missense_Mutation_p.M1158V|MAGI1_ENST00000402939.2_Intron	NM_004742.2	NP_004733.2	Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	0					cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		CATGGAGTCATGCCAGGGAAG	0.483													19	60					0	0	1	0	0	C	65346835	T	C	65346835	3	2	358	1	0	0	0	0	1	0	0	0	9240	1464	51	3	866	3	MAGI1	3	65346835	Missense_Mutation	SNP	T	TCGA-P5-A5F1-01A-11D-A289-08		65346835	132675595	6	31849											
PCDH10	57575	broad.mit.edu	37	4	134072551	134072551	+	Frame_Shift_Del	DEL	C	C	-			TCGA-P5-A5F1-01A-11D-A289-08	TCGA-P5-A5F1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f0a2f-39d4-4860-84b8-3c17e94a5fc7	30685d26-2709-4406-8937-9c326bf8164e	g.chr4:134072551delC	ENST00000264360.5	+	1	2082	c.1256delC	c.(1255-1257)gccfs	p.A419fs		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10		Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		GTTACCGAAGCCCCCCTGGAC	0.592													7	429	---	---	---	---						-	134072551	C	-	134072551	7	5	358	1	0	1	0	1	0	0	0	0	11554	739	26	0	1258	0	PCDH10	4	134072551	Frame_Shift_Del	DEL	C	TCGA-P5-A5F1-01A-11D-A289-08		134072551	57081725	7	31850											
NR3C2	4306	broad.mit.edu	37	4	149075976	149075976	+	Silent	SNP	T	T	G			TCGA-P5-A5F1-01A-11D-A289-08	TCGA-P5-A5F1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f0a2f-39d4-4860-84b8-3c17e94a5fc7	30685d26-2709-4406-8937-9c326bf8164e	g.chr4:149075976T>G	ENST00000355292.3	-	5	2465	c.2103A>C	c.(2101-2103)ccA>ccC	p.P701P	NR3C2_ENST00000358102.3_Silent_p.P697P|NR3C2_ENST00000511528.1_Silent_p.P701P|NR3C2_ENST00000512865.1_Intron|NR3C2_ENST00000344721.4_Silent_p.P697P|NR3C2_ENST00000503313.1_5'UTR|RP11-76G10.1_ENST00000514843.1_RNA			P08235	MCR_HUMAN	nuclear receptor subfamily 3, group C, member 2	697	Hinge.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	endoplasmic reticulum membrane|nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421)	ggggtgggggtgggggtgggg	0.527													4	9					0	0	1	0	0	G	149075976	T	G	149075976	2	3	358	1	0	0	0	0	0	0	0	1	10679	1683	59	5		5	NR3C2	4	149075976	Silent	SNP	T	TCGA-P5-A5F1-01A-11D-A289-08	15003425	149075976	42078300	8	31851											
FAM81B	153643	broad.mit.edu	37	5	94749873	94749873	+	Silent	SNP	A	A	G			TCGA-P5-A5F1-01A-11D-A289-08	TCGA-P5-A5F1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f0a2f-39d4-4860-84b8-3c17e94a5fc7	30685d26-2709-4406-8937-9c326bf8164e	g.chr5:94749873A>G	ENST00000283357.5	+	4	562	c.516A>G	c.(514-516)aaA>aaG	p.K172K		NM_152548.2	NP_689761	Q96LP2	FA81B_HUMAN	family with sequence similarity 81, member B	172										central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_cancers(142;1.1e-06)|all_epithelial(76;1.48e-09)|all_lung(232;0.000696)|Lung NSC(167;0.000947)|Ovarian(225;0.00473)		all cancers(79;1.04e-16)		GCATCGTCAAAAAACTCAGCC	0.418													4	92					0	0	1	0	0	G	94749873	A	G	94749873	2	3	358	1	0	0	0	0	0	0	0	1	5661	11	1	3		3	FAM81B	5	94749873	Silent	SNP	A	TCGA-P5-A5F1-01A-11D-A289-08		94749873	86165387	9	31852											
STK19	8859	broad.mit.edu	37	6	31939829	31939830	+	Frame_Shift_Ins	INS	-	-	A			TCGA-P5-A5F1-01A-11D-A289-08	TCGA-P5-A5F1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f0a2f-39d4-4860-84b8-3c17e94a5fc7	30685d26-2709-4406-8937-9c326bf8164e	g.chr6:31939829_31939830insA	ENST00000375331.2	+	1	222_223	c.56_57insA	c.(55-60)gcaaacfs	p.N20fs	DXO_ENST00000478221.1_5'UTR|STK19_ENST00000375333.2_Frame_Shift_Ins_p.N20fs|DXO_ENST00000337523.5_5'UTR|DXO_ENST00000375349.3_5'UTR	NM_004197.1	NP_004188.1	P49842	STK19_HUMAN	serine/threonine kinase 19	20						nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			skin(5)|upper_aerodigestive_tract(2)	7						CAGTGGCGGGCAAACCCCTCCC	0.634													12	193	---	---	---	---						A	31939830	-	A	31939829	7	5	358	1	0	1	1	0	0	0	0	0	15348	710	25	0	58	0	STK19	6	31939829	Frame_Shift_Ins	INS	-	TCGA-P5-A5F1-01A-11D-A289-08		31939829	139175238	10	31853											
BRPF3	27154	broad.mit.edu	37	6	36169409	36169409	+	Missense_Mutation	SNP	T	T	G			TCGA-P5-A5F1-01A-11D-A289-08	TCGA-P5-A5F1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f0a2f-39d4-4860-84b8-3c17e94a5fc7	30685d26-2709-4406-8937-9c326bf8164e	g.chr6:36169409T>G	ENST00000357641.6	+	2	1563	c.1310T>G	c.(1309-1311)gTg>gGg	p.V437G	BRPF3_ENST00000543502.1_Missense_Mutation_p.V437G|BRPF3_ENST00000534694.1_Missense_Mutation_p.V437G|BRPF3_ENST00000534400.1_Missense_Mutation_p.V437G|BRPF3_ENST00000339717.7_Missense_Mutation_p.V437G|BRPF3_ENST00000443324.2_Missense_Mutation_p.V437G	NM_015695.2	NP_056510.2	Q9ULD4	BRPF3_HUMAN	bromodomain and PHD finger containing, 3	437					histone H3 acetylation|platelet activation|platelet degranulation	cytosol|extracellular region|MOZ/MORF histone acetyltransferase complex	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	40						CAAGGCGGGGTGAGTGGCTCC	0.547													8	35					0	0	1	0	0	G	36169409	T	G	36169409	3	3	358	1	0	0	0	0	1	0	0	0	1523	1696	59	5	1312	5	BRPF3	6	36169409	Missense_Mutation	SNP	T	TCGA-P5-A5F1-01A-11D-A289-08	4229580	36169409	134945658	11	31854											
COL17A1	1308	broad.mit.edu	37	10	105836081	105836081	+	Silent	SNP	G	G	A			TCGA-P5-A5F1-01A-11D-A289-08	TCGA-P5-A5F1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f0a2f-39d4-4860-84b8-3c17e94a5fc7	30685d26-2709-4406-8937-9c326bf8164e	g.chr10:105836081G>A	ENST00000353479.5	-	5	599	c.309C>T	c.(307-309)caC>caT	p.H103H	COL17A1_ENST00000369733.3_Silent_p.H103H|COL17A1_ENST00000393211.3_Silent_p.H103H	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN	collagen, type XVII, alpha 1	103	Nonhelical region (NC16).				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		GGCGGGTAACGTGAGTTTTCC	0.507													6	156					0	0	1	0	0	A	105836081	G	A	105836081	2	1	358	1	0	0	0	0	0	0	0	1	3697	1136	40	1		1	COL17A1	10	105836081	Silent	SNP	G	TCGA-P5-A5F1-01A-11D-A289-08		105836081	29698666	12	31855											
MKI67	4288	broad.mit.edu	37	10	129905566	129905566	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A5F1-01A-11D-A289-08	TCGA-P5-A5F1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f0a2f-39d4-4860-84b8-3c17e94a5fc7	30685d26-2709-4406-8937-9c326bf8164e	g.chr10:129905566C>T	ENST00000368654.3	-	13	4913	c.4538G>A	c.(4537-4539)aGa>aAa	p.R1513K	MKI67_ENST00000368653.3_Missense_Mutation_p.R1153K	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1513	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				CCTGAGACTTCTCTTGGACTG	0.498													27	332					0	0	1	0	0	T	129905566	C	T	129905566	3	4	358	1	0	0	0	0	1	0	0	0	9646	913	32	2	5244	2	MKI67	10	129905566	Missense_Mutation	SNP	C	TCGA-P5-A5F1-01A-11D-A289-08	24069485	129905566	5629181	13	31856											
TRIM6	117854	broad.mit.edu	37	11	5624532	5624532	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A5F1-01A-11D-A289-08	TCGA-P5-A5F1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f0a2f-39d4-4860-84b8-3c17e94a5fc7	30685d26-2709-4406-8937-9c326bf8164e	g.chr11:5624532G>A	ENST00000380097.3	+	2	316	c.74G>A	c.(73-75)aGa>aAa	p.R25K	TRIM6_ENST00000507320.1_Intron|AC015691.13_ENST00000394793.2_RNA|TRIM6_ENST00000380107.1_5'UTR|HBG2_ENST00000380259.2_Intron|TRIM6-TRIM34_ENST00000354852.5_Missense_Mutation_p.R25K|TRIM6_ENST00000515022.1_Intron|TRIM6_ENST00000445329.1_Intron|TRIM6_ENST00000506134.1_Intron|TRIM6_ENST00000278302.5_5'UTR	NM_001003818.2|NM_001198644.1|NM_001198645.1	NP_001003818.1|NP_001185573.1|NP_001185574.1			tripartite motif containing 6											breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|prostate(2)|stomach(1)	22		Lung NSC(207;2.23e-07)|all_lung(207;1.81e-06)|Medulloblastoma(188;0.00225)|Breast(177;0.0101)|all_neural(188;0.0212)		Epithelial(150;1.12e-45)|BRCA - Breast invasive adenocarcinoma(625;0.00101)|LUSC - Lung squamous cell carcinoma(625;0.192)		GGAGCCAGGAGAGTAGCTACA	0.483													11	40					0	0	1	0	0	A	5624532	G	A	5624532	3	1	358	1	0	0	0	0	1	0	0	0	16594	942	33	2	80	2	TRIM6	11	5624532	Missense_Mutation	SNP	G	TCGA-P5-A5F1-01A-11D-A289-08		5624532	129381984	14	31857											
LRFN4	78999	broad.mit.edu	37	11	66627620	66627620	+	Frame_Shift_Del	DEL	G	G	-			TCGA-P5-A5F1-01A-11D-A289-08	TCGA-P5-A5F1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f0a2f-39d4-4860-84b8-3c17e94a5fc7	30685d26-2709-4406-8937-9c326bf8164e	g.chr11:66627620delG	ENST00000309602.4	+	2	2105	c.1862delG	c.(1861-1863)cggfs	p.R621fs	PC_ENST00000393960.1_Intron|PC_ENST00000393958.2_Intron|LRFN4_ENST00000393952.3_Intron|PC_ENST00000393955.2_Intron	NM_024036.4	NP_076941.2	Q6PJG9	LRFN4_HUMAN	leucine rich repeat and fibronectin type III domain containing 4	621						integral to membrane				breast(1)|lung(1)|prostate(1)	3						GCAGGGTGCCGGGGGGTAGGA	0.692													2	4	---	---	---	---						-	66627620	G	-	66627620	7	5	358	1	0	1	0	1	0	0	0	0	8985	1116	39	0	1868	0	LRFN4	11	66627620	Frame_Shift_Del	DEL	G	TCGA-P5-A5F1-01A-11D-A289-08	61003088	66627620	68378896	15	31858											
FAM90A1	55138	broad.mit.edu	37	12	8376067	8376067	+	Missense_Mutation	SNP	G	G	A	rs150256213		TCGA-P5-A5F1-01A-11D-A289-08	TCGA-P5-A5F1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f0a2f-39d4-4860-84b8-3c17e94a5fc7	30685d26-2709-4406-8937-9c326bf8164e	g.chr12:8376067G>A	ENST00000538603.1	-	6	968	c.410C>T	c.(409-411)aCg>aTg	p.T137M	FAM90A1_ENST00000307435.6_Missense_Mutation_p.T137M	NM_018088.3	NP_060558.3	Q86YD7	F90A1_HUMAN	family with sequence similarity 90, member A1	137							nucleic acid binding|zinc ion binding			endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	25				Kidney(36;0.0866)		AGAAGATTCCGTGGATCCTTT	0.527													22	50					0	0	1	0	0	A	8376067	G	A	8376067	3	1	358	1	0	0	0	0	1	0	0	0	5681	1145	40	1	992	1	FAM90A1	12	8376067	Missense_Mutation	SNP	G	TCGA-P5-A5F1-01A-11D-A289-08		8376067	125475828	16	31859											
NYNRIN	57523	broad.mit.edu	37	14	24884572	24884572	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A5F1-01A-11D-A289-08	TCGA-P5-A5F1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f0a2f-39d4-4860-84b8-3c17e94a5fc7	30685d26-2709-4406-8937-9c326bf8164e	g.chr14:24884572G>A	ENST00000382554.3	+	9	3935	c.3617G>A	c.(3616-3618)gGt>gAt	p.G1206D		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	1206					DNA integration	integral to membrane	DNA binding			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						CAGTCAGGGGGTGACAGCCCC	0.617													63	96					0	0	1	0	0	A	24884572	G	A	24884572	3	1	358	1	0	0	0	0	1	0	0	0	10844	1261	44	2	3647	2	NYNRIN	14	24884572	Missense_Mutation	SNP	G	TCGA-P5-A5F1-01A-11D-A289-08		24884572	82464968	17	31860											
TFAP4	7023	broad.mit.edu	37	16	4308138	4308138	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A5F1-01A-11D-A289-08	TCGA-P5-A5F1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f0a2f-39d4-4860-84b8-3c17e94a5fc7	30685d26-2709-4406-8937-9c326bf8164e	g.chr16:4308138G>A	ENST00000204517.6	-	7	1263	c.935C>T	c.(934-936)aCc>aTc	p.T312I		NM_003223.2	NP_003214.1	Q01664	TFAP4_HUMAN	transcription factor AP-4 (activating enhancer binding protein 4)	312					DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation by host of viral transcription|negative regulation of cell cycle arrest|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|regulation of S phase of mitotic cell cycle	transcriptional repressor complex	E-box binding|histone deacetylase binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|endometrium(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	14						GTCGGAGGCGGTGTCAGAGGT	0.692													5	85					0	0	1	0	0	A	4308138	G	A	4308138	3	1	358	1	0	0	0	0	1	0	0	0	15852	1261	44	2	85	2	TFAP4	16	4308138	Missense_Mutation	SNP	G	TCGA-P5-A5F1-01A-11D-A289-08		4308138	86046615	18	31861											
TNRC6A	27327	broad.mit.edu	37	16	24800571	24800571	+	Nonsense_Mutation	SNP	C	C	G			TCGA-P5-A5F1-01A-11D-A289-08	TCGA-P5-A5F1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f0a2f-39d4-4860-84b8-3c17e94a5fc7	30685d26-2709-4406-8937-9c326bf8164e	g.chr16:24800571C>G	ENST00000395799.3	+	6	737	c.608C>G	c.(607-609)tCa>tGa	p.S203*	TNRC6A_ENST00000315183.7_Nonsense_Mutation_p.S203*	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	203	Ser-rich.				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		CACAGTACTTCAGGATCCCAT	0.353													5	67					0	0	1	0	0	G	24800571	C	G	24800571	4	3	358	1	0	0	0	0	0	1	0	0	16400	838	29	5	630	5	TNRC6A	16	24800571	Nonsense_Mutation	SNP	C	TCGA-P5-A5F1-01A-11D-A289-08	20492433	24800571	65554182	19	31862											
TP53	7157	broad.mit.edu	37	17	7577157	7577158	+	Splice_Site	DEL	TA	TA	-			TCGA-P5-A5F1-01A-11D-A289-08	TCGA-P5-A5F1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f0a2f-39d4-4860-84b8-3c17e94a5fc7	30685d26-2709-4406-8937-9c326bf8164e	g.chr17:7577157_7577158delTA	ENST00000420246.2	-	8	915		c.e8-2		TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000269305.4_Splice_Site|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000413465.2_Intron	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53						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.?(12)|p.0?(8)|p.E258fs*71(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)		AGATTACCACTACTCAGGATAG	0.515		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)			3	6	---	---	---	---						-	7577158	TA	-	7577157	8	5	358	1	0	1	0	1	0	0	1	0	16442	1536	53	0	505	0	TP53	17	7577157	Splice_Site	DEL	TA	TCGA-P5-A5F1-01A-11D-A289-08		7577157	73618053	20	31863											
TP53	7157	broad.mit.edu	37	17	7578492	7578492	+	Nonsense_Mutation	SNP	C	C	T			TCGA-P5-A5F1-01A-11D-A289-08	TCGA-P5-A5F1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f0a2f-39d4-4860-84b8-3c17e94a5fc7	30685d26-2709-4406-8937-9c326bf8164e	g.chr17:7578492C>T	ENST00000420246.2	-	5	570	c.438G>A	c.(436-438)tgG>tgA	p.W146*	TP53_ENST00000269305.4_Nonsense_Mutation_p.W146*|TP53_ENST00000445888.2_Nonsense_Mutation_p.W146*|TP53_ENST00000413465.2_Nonsense_Mutation_p.W146*|TP53_ENST00000359597.4_Nonsense_Mutation_p.W146*|TP53_ENST00000455263.2_Nonsense_Mutation_p.W146*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	146	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		W -> C (in a sporadic cancer; somatic mutation).|W -> G (in sporadic cancers; somatic mutation).|W -> L (in sporadic cancers; somatic mutation).|W -> R (in sporadic cancers; somatic mutation).|W -> 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.W146*(39)|p.0?(8)|p.W53*(3)|p.W14*(3)|p.W146C(2)|p.Q144_G154del11(1)|p.W146_V147insXXXXXXX(1)|p.W146_S149>C(1)|p.Q144fs*32(1)|p.Q144fs*16(1)|p.W146fs*1(1)|p.L137_W146del10(1)|p.W146fs*22(1)|p.W146fs*23(1)|p.V143_S149del(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)		TGGAATCAACCCACAGCTGCA	0.602		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			28	60					0	0	1	0	0	T	7578492	C	T	7578492	4	4	358	1	0	0	0	0	0	1	0	0	16442	624	22	2	860	2	TP53	17	7578492	Nonsense_Mutation	SNP	C	TCGA-P5-A5F1-01A-11D-A289-08	1335	7578492	73616718	21	31864											
ACACA	31	broad.mit.edu	37	17	35545360	35545360	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A5F1-01A-11D-A289-08	TCGA-P5-A5F1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f0a2f-39d4-4860-84b8-3c17e94a5fc7	30685d26-2709-4406-8937-9c326bf8164e	g.chr17:35545360C>T	ENST00000353139.5	-	39	5114	c.4633G>A	c.(4633-4635)Gtc>Atc	p.V1545I	ACACA_ENST00000335166.5_Missense_Mutation_p.V1430I|ACACA_ENST00000360679.3_Missense_Mutation_p.V1450I|ACACA_ENST00000394406.2_Missense_Mutation_p.V1508I	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	1508					acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	GCCTGGAGGACGCGCAATTTC	0.483													20	61					0	0	1	0	0	T	35545360	C	T	35545360	3	4	358	1	0	0	0	0	1	0	0	0	106	536	19	1	2590	1	ACACA	17	35545360	Missense_Mutation	SNP	C	TCGA-P5-A5F1-01A-11D-A289-08	27966868	35545360	45649850	22	31865											
TNS4	84951	broad.mit.edu	37	17	38645118	38645118	+	Silent	SNP	A	A	G			TCGA-P5-A5F1-01A-11D-A289-08	TCGA-P5-A5F1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f0a2f-39d4-4860-84b8-3c17e94a5fc7	30685d26-2709-4406-8937-9c326bf8164e	g.chr17:38645118A>G	ENST00000254051.6	-	3	701	c.543T>C	c.(541-543)agT>agC	p.S181S		NM_032865.5	NP_116254.4	Q8IZW8	TENS4_HUMAN	tensin 4	181	Ser-rich.				apoptosis|protein localization	cytoplasm|cytoskeleton|focal adhesion	actin binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	30		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(5;5.91e-05)			GGAGGCCACCACTGCGAAGGG	0.642													6	153					0	0	1	0	0	G	38645118	A	G	38645118	2	3	358	1	0	0	0	0	0	0	0	1	16405	156	6	3		3	TNS4	17	38645118	Silent	SNP	A	TCGA-P5-A5F1-01A-11D-A289-08	3099758	38645118	42550092	23	31866											
C1QTNF1	114897	broad.mit.edu	37	17	77043851	77043851	+	Missense_Mutation	SNP	A	A	C			TCGA-P5-A5F1-01A-11D-A289-08	TCGA-P5-A5F1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f0a2f-39d4-4860-84b8-3c17e94a5fc7	30685d26-2709-4406-8937-9c326bf8164e	g.chr17:77043851A>C	ENST00000339142.2	+	5	1082	c.527A>C	c.(526-528)gAc>gCc	p.D176A	C1QTNF1_ENST00000581774.1_Missense_Mutation_p.D176A|C1QTNF1_ENST00000582625.1_3'UTR|C1QTNF1_ENST00000579760.1_Missense_Mutation_p.D176A|C1QTNF1_ENST00000578229.1_Missense_Mutation_p.D94A|C1QTNF1_ENST00000580474.1_Missense_Mutation_p.D176A|C1QTNF1_ENST00000354124.3_Missense_Mutation_p.D186A|C1QTNF1_ENST00000392445.2_Missense_Mutation_p.D176A|C1QTNF1_ENST00000583904.1_Missense_Mutation_p.D176A|C1QTNF1_ENST00000580454.1_Missense_Mutation_p.D176A|C1QTNF1_ENST00000311661.4_Missense_Mutation_p.D94A	NM_198593.3	NP_940995.1	Q9BXJ1	C1QT1_HUMAN	C1q and tumor necrosis factor related protein 1	176	C1q.					collagen				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(2)	14			BRCA - Breast invasive adenocarcinoma(99;0.0294)|OV - Ovarian serous cystadenocarcinoma(97;0.201)			AACCTCTACGACCACTTCAAC	0.562													64	115					0	0	1	0	0	C	77043851	A	C	77043851	3	2	358	1	0	0	0	0	1	0	0	0	1975	275	10	5	537	5	C1QTNF1	17	77043851	Missense_Mutation	SNP	A	TCGA-P5-A5F1-01A-11D-A289-08	38398733	77043851	4151359	24	31867											
ZNF260	339324	broad.mit.edu	37	19	37005409	37005409	+	Silent	SNP	T	T	C			TCGA-P5-A5F1-01A-11D-A289-08	TCGA-P5-A5F1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f0a2f-39d4-4860-84b8-3c17e94a5fc7	30685d26-2709-4406-8937-9c326bf8164e	g.chr19:37005409T>C	ENST00000523638.1	-	3	1853	c.732A>G	c.(730-732)ggA>ggG	p.G244G	ZNF260_ENST00000588993.1_Silent_p.G244G|ZNF260_ENST00000592282.1_Silent_p.G244G|ZNF260_ENST00000593142.1_Silent_p.G244G	NM_001166036.1|NM_001166037.1|NM_001166038.1	NP_001159508.1|NP_001159509.1|NP_001159510.1	Q3ZCT1	ZN260_HUMAN	zinc finger protein 260	244					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)	15	Esophageal squamous(110;0.162)					AAGGTTTCTCTCCTGTGTGAC	0.413													32	67					0	0	1	0	0	C	37005409	T	C	37005409	2	2	358	1	0	0	0	0	0	0	0	1	17860	1538	54	3		3	ZNF260	19	37005409	Silent	SNP	T	TCGA-P5-A5F1-01A-11D-A289-08		37005409	22123574	25	31868											
PEG3	5178	broad.mit.edu	37	19	57325168	57325168	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A5F1-01A-11D-A289-08	TCGA-P5-A5F1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f0a2f-39d4-4860-84b8-3c17e94a5fc7	30685d26-2709-4406-8937-9c326bf8164e	g.chr19:57325168G>A	ENST00000326441.9	-	10	5005	c.4642C>T	c.(4642-4644)Cgt>Tgt	p.R1548C	ZIM2_ENST00000599935.1_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.R1422C|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.R1548C|PEG3_ENST00000598410.1_Missense_Mutation_p.R1424C|ZIM2_ENST00000601070.1_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	1548					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		GTGCTGGCACGTTCGATGTAG	0.522													20	75					0	0	1	0	0	A	57325168	G	A	57325168	3	1	358	1	0	0	0	0	1	0	0	0	11767	1145	40	1	128	1	PEG3	19	57325168	Missense_Mutation	SNP	G	TCGA-P5-A5F1-01A-11D-A289-08	20319759	57325168	1803815	26	31869											
BAGE2	85319	broad.mit.edu	37	21	11038930	11038930	+	RNA	SNP	G	G	T			TCGA-P5-A5F1-01A-11D-A289-08	TCGA-P5-A5F1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f0a2f-39d4-4860-84b8-3c17e94a5fc7	30685d26-2709-4406-8937-9c326bf8164e	g.chr21:11038930G>T	ENST00000470054.1	-	0	1273									B melanoma antigen family, member 2															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)		CATCTGCCTTGCTTATGTCTG	0.428													21	528					4.59853e-10	5.04717e-10	1	1	0	T	11038930	G	T	11038930	1	4	358	0	1	0	0	0	0	0	0	0	1290	1334	46	5		5	BAGE2	21	11038930	RNA	SNP	G	TCGA-P5-A5F1-01A-11D-A289-08		11038930	37090965	27	31870											
BAGE2	85319	broad.mit.edu	37	21	11047557	11047557	+	RNA	SNP	G	G	A			TCGA-P5-A5F1-01A-11D-A289-08	TCGA-P5-A5F1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f0a2f-39d4-4860-84b8-3c17e94a5fc7	30685d26-2709-4406-8937-9c326bf8164e	g.chr21:11047557G>A	ENST00000470054.1	-	0	697									B melanoma antigen family, member 2															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)		TTTGTCACACGTATCACACAC	0.333													33	470					0	0	1	0	0	A	11047557	G	A	11047557	1	1	358	0	1	0	0	0	0	0	0	0	1290	1160	40	1		1	BAGE2	21	11047557	RNA	SNP	G	TCGA-P5-A5F1-01A-11D-A289-08	8627	11047557	37082338	28	31871											
TCP10L	140290	broad.mit.edu	37	21	33954533	33954533	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A5F1-01A-11D-A289-08	TCGA-P5-A5F1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f0a2f-39d4-4860-84b8-3c17e94a5fc7	30685d26-2709-4406-8937-9c326bf8164e	g.chr21:33954533C>T	ENST00000300258.3	-	3	450	c.337G>A	c.(337-339)Gcg>Acg	p.A113T	AP000275.65_ENST00000553001.1_Missense_Mutation_p.A287T|TCP10L_ENST00000472557.1_Missense_Mutation_p.A27T	NM_144659.5	NP_653260.1			t-complex 10-like											breast(1)|central_nervous_system(1)|liver(1)|skin(1)	4						TCTTGCCCCGCGTGTGGGGAC	0.498													57	112					0	0	1	0	0	T	33954533	C	T	33954533	3	4	358	1	0	0	0	0	1	0	0	0	15771	768	27	1	322	1	TCP10L	21	33954533	Missense_Mutation	SNP	C	TCGA-P5-A5F1-01A-11D-A289-08	22906976	33954533	14175362	29	31872											
ATRX	546	broad.mit.edu	37	X	76938788	76938788	+	Nonsense_Mutation	SNP	G	G	A			TCGA-P5-A5F1-01A-11D-A289-08	TCGA-P5-A5F1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f0a2f-39d4-4860-84b8-3c17e94a5fc7	30685d26-2709-4406-8937-9c326bf8164e	g.chrX:76938788G>A	ENST00000373344.5	-	9	2174	c.1960C>T	c.(1960-1962)Cga>Tga	p.R654*	ATRX_ENST00000395603.3_Nonsense_Mutation_p.R616*|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	654					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)	GGGGATCTTCGAAGATCAGAT	0.393			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						88	40					0	0	1	0	0	A	76938788	G	A	76938788	4	1	358	1	0	0	0	0	0	1	0	0	1206	1066	37	1	5626	1	ATRX	23	76938788	Nonsense_Mutation	SNP	G	TCGA-P5-A5F1-01A-11D-A289-08		76938788	78331772	30	31873											
PADI2	11240	broad.mit.edu	37	1	17418910	17418910	+	Silent	SNP	G	G	A			TCGA-P5-A5F2-01A-11D-A289-08	TCGA-P5-A5F2-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d51361-c4ad-4907-b18f-66991749ba1f	666497c6-2a20-4949-9a09-13e17e2a00f9	g.chr1:17418910G>A	ENST00000375486.4	-	6	711	c.648C>T	c.(646-648)taC>taT	p.Y216Y	PADI2_ENST00000444885.2_Intron|PADI2_ENST00000375481.1_Silent_p.Y216Y	NM_007365.2	NP_031391.2	Q9Y2J8	PADI2_HUMAN	peptidyl arginine deiminase, type II	216					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(12)|ovary(4)|pancreas(1)|skin(5)|urinary_tract(3)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000422)|Renal(390;0.000518)|all_lung(284;0.000546)|Ovarian(437;0.00671)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;1.49e-05)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)	L-Citrulline(DB00155)	CACTCTCCACGTAGAACACGC	0.577													28	41					0	0	1	0	0	A	17418910	G	A	17418910	2	1	359	1	0	0	0	0	0	0	0	1	11425	1140	40	1		1	PADI2	1	17418910	Silent	SNP	G	TCGA-P5-A5F2-01A-11D-A289-08		17418910	231831711	1	31874											
KTI12	112970	broad.mit.edu	37	1	52499413	52499413	+	Silent	SNP	G	G	A			TCGA-P5-A5F2-01A-11D-A289-08	TCGA-P5-A5F2-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d51361-c4ad-4907-b18f-66991749ba1f	666497c6-2a20-4949-9a09-13e17e2a00f9	g.chr1:52499413G>A	ENST00000371614.1	-	1	75	c.21C>T	c.(19-21)tgC>tgT	p.C7C	RP11-91A18.4_ENST00000425802.1_RNA|TXNDC12_ENST00000610127.1_3'UTR|TXNDC12_ENST00000371626.4_Intron	NM_138417.2	NP_612426.1	Q96EK9	KTI12_HUMAN	KTI12 homolog, chromatin associated (S. cerevisiae)	7							ATP binding			central_nervous_system(2)|endometrium(1)|kidney(1)|lung(4)|ovary(1)|stomach(2)|urinary_tract(1)	12						ACGGCAGCCCGCAAAACACCA	0.672													3	26					0	0	1	0	0	A	52499413	G	A	52499413	2	1	359	1	0	0	0	0	0	0	0	1	8623	1079	38	1		1	KTI12	1	52499413	Silent	SNP	G	TCGA-P5-A5F2-01A-11D-A289-08	35080503	52499413	196751208	2	31875											
ARHGEF2	9181	broad.mit.edu	37	1	155920805	155920805	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A5F2-01A-11D-A289-08	TCGA-P5-A5F2-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d51361-c4ad-4907-b18f-66991749ba1f	666497c6-2a20-4949-9a09-13e17e2a00f9	g.chr1:155920805G>A	ENST00000462460.2	-	24	2907	c.2653C>T	c.(2653-2655)Cgg>Tgg	p.R885W	ARHGEF2_ENST00000361247.4_Missense_Mutation_p.R840W|ARHGEF2_ENST00000368315.4_Missense_Mutation_p.R841W|ARHGEF2_ENST00000313695.7_Missense_Mutation_p.R812W|ARHGEF2_ENST00000313667.4_Missense_Mutation_p.R839W|ARHGEF2_ENST00000368316.1_Missense_Mutation_p.R812W|ARHGEF2_ENST00000477754.2_Intron			Q92974	ARHG2_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 2						actin filament organization|apoptosis|cell division|cell morphogenesis|induction of apoptosis by extracellular signals|intracellular protein transport|mitosis|negative regulation of microtubule depolymerization|nerve growth factor receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|regulation of cell proliferation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|Golgi apparatus|microtubule|ruffle membrane|spindle|tight junction	microtubule binding|Rac GTPase binding|Rac guanyl-nucleotide exchange factor activity|zinc ion binding			breast(4)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|skin(2)	40	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					TCACTCTCCCGGAGCCGGGCC	0.706													17	15					0	0	1	0	0	A	155920805	G	A	155920805	3	1	359	1	0	0	0	0	1	0	0	0	900	1115	39	1	454	1	ARHGEF2	1	155920805	Missense_Mutation	SNP	G	TCGA-P5-A5F2-01A-11D-A289-08	103421392	155920805	93329816	3	31876											
IL1RL1	9173	broad.mit.edu	37	2	102968090	102968090	+	Silent	SNP	C	C	T	rs112596146		TCGA-P5-A5F2-01A-11D-A289-08	TCGA-P5-A5F2-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d51361-c4ad-4907-b18f-66991749ba1f	666497c6-2a20-4949-9a09-13e17e2a00f9	g.chr2:102968090C>T	ENST00000233954.1	+	11	1651	c.1380C>T	c.(1378-1380)taC>taT	p.Y460Y		NM_016232.4	NP_057316.3	Q01638	ILRL1_HUMAN	interleukin 1 receptor-like 1	460	TIR.				innate immune response	integral to membrane	interleukin-1 receptor activity|receptor signaling protein activity	p.Y460Y(1)		NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1)	16						AGTTTGCCTACGAGCAGGAGG	0.527													32	57					0	0	1	0	0	T	102968090	C	T	102968090	2	4	359	1	0	0	0	0	0	0	0	1	7707	547	19	1		1	IL1RL1	2	102968090	Silent	SNP	C	TCGA-P5-A5F2-01A-11D-A289-08		102968090	140231283	4	31877											
TTN	7273	broad.mit.edu	37	2	179531582	179531582	+	Frame_Shift_Del	DEL	A	A	-			TCGA-P5-A5F2-01A-11D-A289-08	TCGA-P5-A5F2-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d51361-c4ad-4907-b18f-66991749ba1f	666497c6-2a20-4949-9a09-13e17e2a00f9	g.chr2:179531582delA	ENST00000589042.1	-	163	36068	c.35844delT	c.(35842-35844)attfs	p.I11948fs	TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000591111.1_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	10096	Pro-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCTTTTAACAATAGGAGTTT	0.323													2	4	---	---	---	---						-	179531582	A	-	179531582	7	5	359	1	0	1	0	1	0	0	0	0	16797	145	5	0		0	TTN	2	179531582	Frame_Shift_Del	DEL	A	TCGA-P5-A5F2-01A-11D-A289-08	76563492	179531582	63667791	5	31878											
HECW2	57520	broad.mit.edu	37	2	197189831	197189831	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A5F2-01A-11D-A289-08	TCGA-P5-A5F2-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d51361-c4ad-4907-b18f-66991749ba1f	666497c6-2a20-4949-9a09-13e17e2a00f9	g.chr2:197189831G>A	ENST00000260983.3	-	6	796	c.614C>T	c.(613-615)cCt>cTt	p.P205L	HECW2_ENST00000409111.1_Intron	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2		C2.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						ATAAGGGTCAGGATTGAAGAA	0.493													4	164					0	0	1	0	0	A	197189831	G	A	197189831	3	1	359	1	0	0	0	0	1	0	0	0	7084	1000	35	2	4200	2	HECW2	2	197189831	Missense_Mutation	SNP	G	TCGA-P5-A5F2-01A-11D-A289-08	17658249	197189831	46009542	6	31879											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-P5-A5F2-01A-11D-A289-08	TCGA-P5-A5F2-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d51361-c4ad-4907-b18f-66991749ba1f	666497c6-2a20-4949-9a09-13e17e2a00f9	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								23	37					0	0	1	0	0	T	209113112	C	T	209113112	3	4	359	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-P5-A5F2-01A-11D-A289-08	11923281	209113112	34086261	7	31880											
OBSL1	23363	broad.mit.edu	37	2	220432495	220432495	+	Silent	SNP	G	G	A			TCGA-P5-A5F2-01A-11D-A289-08	TCGA-P5-A5F2-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d51361-c4ad-4907-b18f-66991749ba1f	666497c6-2a20-4949-9a09-13e17e2a00f9	g.chr2:220432495G>A	ENST00000404537.1	-	3	1535	c.1479C>T	c.(1477-1479)ggC>ggT	p.G493G	OBSL1_ENST00000373873.4_Silent_p.G493G|OBSL1_ENST00000603926.1_Silent_p.G493G|OBSL1_ENST00000265318.4_Silent_p.G493G|OBSL1_ENST00000289656.3_Silent_p.G80G|OBSL1_ENST00000373876.1_Silent_p.G493G	NM_015311.2	NP_056126.1	O75147	OBSL1_HUMAN	obscurin-like 1	493					cardiac myofibril assembly	intercalated disc|M band|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity						Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		AGGTGACCTCGCCAGCATCCT	0.627													4	88					0	0	1	0	0	A	220432495	G	A	220432495	2	1	359	1	0	0	0	0	0	0	0	1	10861	1074	38	1		1	OBSL1	2	220432495	Silent	SNP	G	TCGA-P5-A5F2-01A-11D-A289-08	11319383	220432495	22766878	8	31881											
HDAC4	9759	broad.mit.edu	37	2	240111713	240111713	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A5F2-01A-11D-A289-08	TCGA-P5-A5F2-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d51361-c4ad-4907-b18f-66991749ba1f	666497c6-2a20-4949-9a09-13e17e2a00f9	g.chr2:240111713C>T	ENST00000345617.3	-	4	946	c.155G>A	c.(154-156)cGc>cAc	p.R52H	HDAC4_ENST00000541256.1_Missense_Mutation_p.R21H	NM_006037.3	NP_006028.2	P56524	HDAC4_HUMAN	histone deacetylase 4	52					B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent	histone deacetylase complex|transcriptional repressor complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|potassium ion binding|repressing transcription factor binding|zinc ion binding			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		GTGGTCCAGGCGCAGGTCCAT	0.667													7	59					0	0	1	0	0	T	240111713	C	T	240111713	3	4	359	1	0	0	0	0	1	0	0	0	7050	768	27	1	3195	1	HDAC4	2	240111713	Missense_Mutation	SNP	C	TCGA-P5-A5F2-01A-11D-A289-08	19679218	240111713	3087660	9	31882											
RRP9	9136	broad.mit.edu	37	3	51967796	51967796	+	Splice_Site	SNP	A	A	C			TCGA-P5-A5F2-01A-11D-A289-08	TCGA-P5-A5F2-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d51361-c4ad-4907-b18f-66991749ba1f	666497c6-2a20-4949-9a09-13e17e2a00f9	g.chr3:51967796A>C	ENST00000232888.6	-	14	1335	c.1262T>G	c.(1261-1263)gTg>gGg	p.V421G		NM_004704.3	NP_004695.1	O43818	U3IP2_HUMAN	ribosomal RNA processing 9, small subunit (SSU) processome component, homolog (yeast)	421					rRNA processing	nucleolus|small nuclear ribonucleoprotein complex|small nucleolar ribonucleoprotein complex	RNA binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|ovary(1)|skin(1)	21				BRCA - Breast invasive adenocarcinoma(193;8.04e-05)|Kidney(197;0.000553)|KIRC - Kidney renal clear cell carcinoma(197;0.000724)		GATAAAACCCACCTGAGCAGA	0.572													10	174					0	0	1	0	0	C	51967796	A	C	51967796	5	2	359	1	0	0	0	0	0	0	1	0	13743	173	6	5	173	5	RRP9	3	51967796	Splice_Site	SNP	A	TCGA-P5-A5F2-01A-11D-A289-08		51967796	146054634	10	31883											
DPPA2	151871	broad.mit.edu	37	3	109023364	109023364	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A5F2-01A-11D-A289-08	TCGA-P5-A5F2-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d51361-c4ad-4907-b18f-66991749ba1f	666497c6-2a20-4949-9a09-13e17e2a00f9	g.chr3:109023364G>A	ENST00000478945.1	-	7	1058	c.812C>T	c.(811-813)cCa>cTa	p.P271L		NM_138815.3	NP_620170.3	Q7Z7J5	DPPA2_HUMAN	developmental pluripotency associated 2	271						nucleus	nucleic acid binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TTCTATGCCTGGGGATGGGAA	0.473													41	45					0	0	1	0	0	A	109023364	G	A	109023364	3	1	359	1	0	0	0	0	1	0	0	0	4760	1348	47	2	92	2	DPPA2	3	109023364	Missense_Mutation	SNP	G	TCGA-P5-A5F2-01A-11D-A289-08	57055568	109023364	88999066	11	31884											
SERPINI1	5274	broad.mit.edu	37	3	167508340	167508340	+	Missense_Mutation	SNP	A	A	G			TCGA-P5-A5F2-01A-11D-A289-08	TCGA-P5-A5F2-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d51361-c4ad-4907-b18f-66991749ba1f	666497c6-2a20-4949-9a09-13e17e2a00f9	g.chr3:167508340A>G	ENST00000295777.5	+	3	862	c.431A>G	c.(430-432)aAt>aGt	p.N144S	SERPINI1_ENST00000446050.2_Missense_Mutation_p.N144S	NM_005025.4	NP_005016.1	Q99574	NEUS_HUMAN	serpin peptidase inhibitor, clade I (neuroserpin), member 1	144					central nervous system development|peripheral nervous system development|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(7)|skin(2)	20						TTCAGTCAAAATGTAGCCGTG	0.363													12	55					0	0	1	0	0	G	167508340	A	G	167508340	3	3	359	1	0	0	0	0	1	0	0	0	14172	101	4	3	437	3	SERPINI1	3	167508340	Missense_Mutation	SNP	A	TCGA-P5-A5F2-01A-11D-A289-08	58484976	167508340	30514090	12	31885											
PPARGC1A	10891	broad.mit.edu	37	4	23830190	23830190	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A5F2-01A-11D-A289-08	TCGA-P5-A5F2-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d51361-c4ad-4907-b18f-66991749ba1f	666497c6-2a20-4949-9a09-13e17e2a00f9	g.chr4:23830190C>T	ENST00000264867.2	-	5	709	c.590G>A	c.(589-591)tGt>tAt	p.C197Y	PPARGC1A_ENST00000509702.1_5'UTR	NM_013261.3	NP_037393.1	Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 alpha	197					androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription cofactor activity|transcription factor binding			central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51		Breast(46;0.0503)				TTGCTGTTGACAAATACTCTT	0.408													40	94					0	0	1	0	0	T	23830190	C	T	23830190	3	4	359	1	0	0	0	0	1	0	0	0	12345	478	17	2	1842	2	PPARGC1A	4	23830190	Missense_Mutation	SNP	C	TCGA-P5-A5F2-01A-11D-A289-08		23830190	167324086	13	31886											
NR3C2	4306	broad.mit.edu	37	4	149075976	149075976	+	Silent	SNP	T	T	G			TCGA-P5-A5F2-01A-11D-A289-08	TCGA-P5-A5F2-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d51361-c4ad-4907-b18f-66991749ba1f	666497c6-2a20-4949-9a09-13e17e2a00f9	g.chr4:149075976T>G	ENST00000355292.3	-	5	2465	c.2103A>C	c.(2101-2103)ccA>ccC	p.P701P	NR3C2_ENST00000503313.1_5'UTR|RP11-76G10.1_ENST00000514843.1_RNA|NR3C2_ENST00000511528.1_Silent_p.P701P|NR3C2_ENST00000358102.3_Silent_p.P697P|NR3C2_ENST00000344721.4_Silent_p.P697P|NR3C2_ENST00000512865.1_Intron			P08235	MCR_HUMAN	nuclear receptor subfamily 3, group C, member 2	697	Hinge.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	endoplasmic reticulum membrane|nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421)	ggggtgggggtgggggtgggg	0.527													5	4					0	0	1	0	0	G	149075976	T	G	149075976	2	3	359	1	0	0	0	0	0	0	0	1	10679	1683	59	5		5	NR3C2	4	149075976	Silent	SNP	T	TCGA-P5-A5F2-01A-11D-A289-08	125245786	149075976	42078300	14	31887											
GALNTL6	442117	broad.mit.edu	37	4	173873279	173873279	+	Missense_Mutation	SNP	A	A	G			TCGA-P5-A5F2-01A-11D-A289-08	TCGA-P5-A5F2-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d51361-c4ad-4907-b18f-66991749ba1f	666497c6-2a20-4949-9a09-13e17e2a00f9	g.chr4:173873279A>G	ENST00000506823.1	+	10	1898	c.1241A>G	c.(1240-1242)gAc>gGc	p.D414G	GALNTL6_ENST00000508122.1_Missense_Mutation_p.D397G	NM_001034845.2	NP_001030017.2	Q49A17	GLTL6_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6	414						Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(2)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	45						TCCACGGGGGACATCTCTGCC	0.567													37	80					0	0	1	0	0	G	173873279	A	G	173873279	3	3	359	1	0	0	0	0	1	0	0	0	6265	275	10	3	1275	3	GALNTL6	4	173873279	Missense_Mutation	SNP	A	TCGA-P5-A5F2-01A-11D-A289-08	24797303	173873279	17280997	15	31888											
RIOK2	55781	broad.mit.edu	37	5	96518818	96518819	+	Frame_Shift_Ins	INS	-	-	G			TCGA-P5-A5F2-01A-11D-A289-08	TCGA-P5-A5F2-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d51361-c4ad-4907-b18f-66991749ba1f	666497c6-2a20-4949-9a09-13e17e2a00f9	g.chr5:96518818_96518819insG	ENST00000509481.1	+	4	680_681	c.139_140insG	c.(139-141)cggfs	p.R47fs	RIOK2_ENST00000283109.3_Intron|RIOK2_ENST00000508447.1_Intron																urinary_tract(1)	1						ACAGGAACGGCGGGTTTCTTAC	0.569													9	368	---	---	---	---						G	96518819	-	G	96518818	7	5	359	1	0	1	1	0	0	0	0	0	13430	783	27	0		0	RIOK2	5	96518818	Frame_Shift_Ins	INS	-	TCGA-P5-A5F2-01A-11D-A289-08		96518818	84396442	16	31889											
EGR1	1958	broad.mit.edu	37	5	137802589	137802589	+	Missense_Mutation	SNP	C	C	T	rs137878468		TCGA-P5-A5F2-01A-11D-A289-08	TCGA-P5-A5F2-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d51361-c4ad-4907-b18f-66991749ba1f	666497c6-2a20-4949-9a09-13e17e2a00f9	g.chr5:137802589C>T	ENST00000239938.4	+	2	723	c.451C>T	c.(451-453)Ccc>Tcc	p.P151S		NM_001964.2	NP_001955.1	P18146	EGR1_HUMAN	early growth response 1	151					cellular response to heparin|cellular response to mycophenolic acid|glomerular mesangial cell proliferation|interleukin-1-mediated signaling pathway|positive regulation of glomerular metanephric mesangial cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of protein sumoylation|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytoplasm|nucleus	histone acetyltransferase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|ovary(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			CACCTTGTGGCCCGAGCCCCT	0.637													5	248					0	0	1	0	0	T	137802589	C	T	137802589	3	4	359	1	0	0	0	0	1	0	0	0	4997	739	26	2	457	2	EGR1	5	137802589	Missense_Mutation	SNP	C	TCGA-P5-A5F2-01A-11D-A289-08	41283771	137802589	43112671	17	31890											
PCDHGA2	56113	broad.mit.edu	37	5	140719479	140719479	+	Missense_Mutation	SNP	T	T	A			TCGA-P5-A5F2-01A-11D-A289-08	TCGA-P5-A5F2-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d51361-c4ad-4907-b18f-66991749ba1f	666497c6-2a20-4949-9a09-13e17e2a00f9	g.chr5:140719479T>A	ENST00000394576.2	+	1	941	c.941T>A	c.(940-942)tTc>tAc	p.F314Y	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1														breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GATGCTACATTCCATGAAATT	0.428													17	269					0	0	1	0	0	A	140719479	T	A	140719479	3	1	359	1	0	0	0	0	1	0	0	0	11601	1783	62	5	943	5	PCDHGA2	5	140719479	Missense_Mutation	SNP	T	TCGA-P5-A5F2-01A-11D-A289-08	2916890	140719479	40195781	18	31891											
IRF4	3662	broad.mit.edu	37	6	407544	407544	+	Silent	SNP	C	C	T			TCGA-P5-A5F2-01A-11D-A289-08	TCGA-P5-A5F2-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d51361-c4ad-4907-b18f-66991749ba1f	666497c6-2a20-4949-9a09-13e17e2a00f9	g.chr6:407544C>T	ENST00000380956.4	+	9	1428	c.1302C>T	c.(1300-1302)atC>atT	p.I434I		NM_001195286.1|NM_002460.3	NP_001182215.1|NP_002451.2	Q15306	IRF4_HUMAN	interferon regulatory factor 4	434					interferon-gamma-mediated signaling pathway|positive regulation of interleukin-10 biosynthetic process|positive regulation of interleukin-13 biosynthetic process|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of transcription, DNA-dependent|regulation of T-helper cell differentiation|T cell activation|type I interferon-mediated signaling pathway	cytoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5		Breast(5;0.0155)|all_lung(73;0.0691)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.03)|BRCA - Breast invasive adenocarcinoma(62;0.0702)		CAGAACACATCAGCAATCCAG	0.358			T	IGH@	MM								17	54					0	0	1	0	0	T	407544	C	T	407544	2	4	359	1	0	0	0	0	0	0	0	1	7876	816	29	2		2	IRF4	6	407544	Silent	SNP	C	TCGA-P5-A5F2-01A-11D-A289-08		407544	170707523	19	31892											
STK19	8859	broad.mit.edu	37	6	31939829	31939830	+	Frame_Shift_Ins	INS	-	-	A			TCGA-P5-A5F2-01A-11D-A289-08	TCGA-P5-A5F2-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d51361-c4ad-4907-b18f-66991749ba1f	666497c6-2a20-4949-9a09-13e17e2a00f9	g.chr6:31939829_31939830insA	ENST00000375331.2	+	1	222_223	c.56_57insA	c.(55-60)gcaaacfs	p.N20fs	DXO_ENST00000478221.1_5'UTR|DXO_ENST00000337523.5_5'UTR|DXO_ENST00000375349.3_5'UTR|STK19_ENST00000375333.2_Frame_Shift_Ins_p.N20fs	NM_004197.1	NP_004188.1	P49842	STK19_HUMAN	serine/threonine kinase 19	20						nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			skin(5)|upper_aerodigestive_tract(2)	7						CAGTGGCGGGCAAACCCCTCCC	0.634													9	205	---	---	---	---						A	31939830	-	A	31939829	7	5	359	1	0	1	1	0	0	0	0	0	15348	710	25	0	58	0	STK19	6	31939829	Frame_Shift_Ins	INS	-	TCGA-P5-A5F2-01A-11D-A289-08	31532285	31939829	139175238	20	31893											
FKBP5	2289	broad.mit.edu	37	6	35547956	35547956	+	Missense_Mutation	SNP	C	C	A			TCGA-P5-A5F2-01A-11D-A289-08	TCGA-P5-A5F2-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d51361-c4ad-4907-b18f-66991749ba1f	666497c6-2a20-4949-9a09-13e17e2a00f9	g.chr6:35547956C>A	ENST00000536438.1	-	10	1198	c.883G>T	c.(883-885)Gtg>Ttg	p.V295L	FKBP5_ENST00000357266.4_Missense_Mutation_p.V295L|FKBP5_ENST00000540787.1_Missense_Mutation_p.V116L|FKBP5_ENST00000539068.1_Missense_Mutation_p.V295L	NM_001145775.1	NP_001139247.1	Q13451	FKBP5_HUMAN	FK506 binding protein 5	295					protein folding	cytoplasm|membrane|nucleus	FK506 binding|heat shock protein binding|peptidyl-prolyl cis-trans isomerase activity			breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(3)|urinary_tract(2)	17						AACCAGGACACTATCTTCCCA	0.433													26	152					6.32553e-13	6.59662e-13	1	1	0	A	35547956	C	A	35547956	3	1	359	1	0	0	0	0	1	0	0	0	5944	565	20	4	502	4	FKBP5	6	35547956	Missense_Mutation	SNP	C	TCGA-P5-A5F2-01A-11D-A289-08	3608127	35547956	135567111	21	31894											
PKHD1	5314	broad.mit.edu	37	6	51712705	51712705	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A5F2-01A-11D-A289-08	TCGA-P5-A5F2-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d51361-c4ad-4907-b18f-66991749ba1f	666497c6-2a20-4949-9a09-13e17e2a00f9	g.chr6:51712705G>A	ENST00000371117.3	-	50	8250	c.7975C>T	c.(7975-7977)Ccg>Tcg	p.P2659S	PKHD1_ENST00000340994.4_Missense_Mutation_p.P2659S	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	2659					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)					GGGTAAGGCGGCAAATCTGTG	0.458													4	171					0	0	1	0	0	A	51712705	G	A	51712705	3	1	359	1	0	0	0	0	1	0	0	0	12019	1203	42	2	4360	2	PKHD1	6	51712705	Missense_Mutation	SNP	G	TCGA-P5-A5F2-01A-11D-A289-08	16164749	51712705	119402362	22	31895											
PCLO	27445	broad.mit.edu	37	7	82545175	82545175	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A5F2-01A-11D-A289-08	TCGA-P5-A5F2-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d51361-c4ad-4907-b18f-66991749ba1f	666497c6-2a20-4949-9a09-13e17e2a00f9	g.chr7:82545175G>A	ENST00000333891.9	-	7	12464	c.12127C>T	c.(12127-12129)Cca>Tca	p.P4043S	PCLO_ENST00000423517.2_Missense_Mutation_p.P4043S|PCLO_ENST00000437081.1_Missense_Mutation_p.P763S	NM_033026.5	NP_149015.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein						cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TAATTTCGTGGAGTATGGTGA	0.408													6	58					0	0	1	0	0	A	82545175	G	A	82545175	3	1	359	1	0	0	0	0	1	0	0	0	11630	1174	41	2	3394	2	PCLO	7	82545175	Missense_Mutation	SNP	G	TCGA-P5-A5F2-01A-11D-A289-08		82545175	76593488	23	31896											
XKR5	389610	broad.mit.edu	37	8	6673270	6673270	+	RNA	DEL	A	A	-			TCGA-P5-A5F2-01A-11D-A289-08	TCGA-P5-A5F2-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d51361-c4ad-4907-b18f-66991749ba1f	666497c6-2a20-4949-9a09-13e17e2a00f9	g.chr8:6673270delA	ENST00000518724.1	-	0	1071							Q6UX68	XKR5_HUMAN	XK, Kell blood group complex subunit-related family, member 5							integral to membrane				endometrium(1)|large_intestine(1)|lung(1)	3			STAD - Stomach adenocarcinoma(24;0.0984)	READ - Rectum adenocarcinoma(644;0.137)|COAD - Colon adenocarcinoma(149;0.166)		AGCCCATTGTAAAAAAAAAAA	0.502											OREG0018511	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	4	---	---	---	---						-	6673270	A	-	6673270	6	5	359	0	1	1	0	1	0	0	0	0	17494	377	13	0		0	XKR5	8	6673270	RNA	DEL	A	TCGA-P5-A5F2-01A-11D-A289-08		6673270	139690752	24	31897											
FAM129B	64855	broad.mit.edu	37	9	130293979	130293979	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A5F2-01A-11D-A289-08	TCGA-P5-A5F2-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d51361-c4ad-4907-b18f-66991749ba1f	666497c6-2a20-4949-9a09-13e17e2a00f9	g.chr9:130293979C>T	ENST00000373312.3	-	2	347	c.134G>A	c.(133-135)cGc>cAc	p.R45H	FAM129B_ENST00000468379.1_5'UTR|FAM129B_ENST00000373314.3_Missense_Mutation_p.R32H	NM_022833.2	NP_073744.2	Q96TA1	NIBL1_HUMAN	family with sequence similarity 129, member B	45							protein binding	p.R45H(1)		breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						AATCTCATGGCGCATGCTGTT	0.577													22	104					0	0	1	0	0	T	130293979	C	T	130293979	3	4	359	1	0	0	0	0	1	0	0	0	5468	768	27	1	2158	1	FAM129B	9	130293979	Missense_Mutation	SNP	C	TCGA-P5-A5F2-01A-11D-A289-08		130293979	10919452	25	31898											
NOTCH1	4851	broad.mit.edu	37	9	139396809	139396809	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A5F2-01A-11D-A289-08	TCGA-P5-A5F2-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d51361-c4ad-4907-b18f-66991749ba1f	666497c6-2a20-4949-9a09-13e17e2a00f9	g.chr9:139396809G>A	ENST00000277541.6	-	28	5374	c.5299C>T	c.(5299-5301)Ctc>Ttc	p.L1767F		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1767					aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GGGAACCAGAGCTGGCCATGC	0.672			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			9	58					0	0	1	0	0	A	139396809	G	A	139396809	3	1	359	1	0	0	0	0	1	0	0	0	10594	971	34	2	2396	2	NOTCH1	9	139396809	Missense_Mutation	SNP	G	TCGA-P5-A5F2-01A-11D-A289-08	9102830	139396809	1816622	26	31899											
PTPRE	5791	broad.mit.edu	37	10	129869084	129869084	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A5F2-01A-11D-A289-08	TCGA-P5-A5F2-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d51361-c4ad-4907-b18f-66991749ba1f	666497c6-2a20-4949-9a09-13e17e2a00f9	g.chr10:129869084G>A	ENST00000254667.3	+	15	1585	c.1306G>A	c.(1306-1308)Gtc>Atc	p.V436I	PTPRE_ENST00000306042.5_Missense_Mutation_p.V378I|PTPRE_ENST00000419012.2_Missense_Mutation_p.V436I	NM_006504.4	NP_006495.1	P23469	PTPRE_HUMAN	protein tyrosine phosphatase, receptor type, E	436	Tyrosine-protein phosphatase 2.				negative regulation of insulin receptor signaling pathway|protein phosphorylation	cytoplasm|integral to membrane|intermediate filament cytoskeleton|nucleus|plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	22		all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203)				ATTGACAAATGTCCGGATCAT	0.522													10	35					0	0	1	0	0	A	129869084	G	A	129869084	3	1	359	1	0	0	0	0	1	0	0	0	12852	1377	48	2	1395	2	PTPRE	10	129869084	Missense_Mutation	SNP	G	TCGA-P5-A5F2-01A-11D-A289-08		129869084	5665663	27	31900											
MRPL17	63875	broad.mit.edu	37	11	6704527	6704527	+	Translation_Start_Site	SNP	T	T	C	rs140275479		TCGA-P5-A5F2-01A-11D-A289-08	TCGA-P5-A5F2-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d51361-c4ad-4907-b18f-66991749ba1f	666497c6-2a20-4949-9a09-13e17e2a00f9	g.chr11:6704527T>C	ENST00000288937.6	-	1	105	c.1A>G	c.(1-3)Atg>Gtg	p.M1V		NM_022061.3	NP_071344.1	Q9NRX2	RM17_HUMAN	mitochondrial ribosomal protein L17	1					translation	ribosome	protein domain specific binding|structural constituent of ribosome			lung(4)	4		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		GACAGCCGCATGTTTCCAACT	0.622											OREG0020719	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	27					0	0	1	0	0	C	6704527	T	C	6704527	1	2	359	1	0	0	0	0	0	0	0	0	9831	1464	51	3		3	MRPL17	11	6704527	Translation_Start_Site	SNP	T	TCGA-P5-A5F2-01A-11D-A289-08		6704527	128301989	28	31901											
OR5T3	390154	broad.mit.edu	37	11	56020474	56020474	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A5F2-01A-11D-A289-08	TCGA-P5-A5F2-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d51361-c4ad-4907-b18f-66991749ba1f	666497c6-2a20-4949-9a09-13e17e2a00f9	g.chr11:56020474G>A	ENST00000303059.3	+	1	799	c.799G>A	c.(799-801)Gcc>Acc	p.A267T		NM_001004747.1	NP_001004747.1	Q8NGG3	OR5T3_HUMAN	olfactory receptor, family 5, subfamily T, member 3	267					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	39	Esophageal squamous(21;0.00448)					AAGGCAAAAGGCCTTCTCTAC	0.423													27	135					0	0	1	0	0	A	56020474	G	A	56020474	3	1	359	1	0	0	0	0	1	0	0	0	11230	1203	42	2	801	2	OR5T3	11	56020474	Missense_Mutation	SNP	G	TCGA-P5-A5F2-01A-11D-A289-08	49315947	56020474	78986042	29	31902											
ROBO3	64221	broad.mit.edu	37	11	124745490	124745491	+	Frame_Shift_Ins	INS	-	-	G	rs140619532	by1000genomes	TCGA-P5-A5F2-01A-11D-A289-08	TCGA-P5-A5F2-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d51361-c4ad-4907-b18f-66991749ba1f	666497c6-2a20-4949-9a09-13e17e2a00f9	g.chr11:124745490_124745491insG	ENST00000397801.1	+	15	2522_2523	c.2330_2331insG	c.(2329-2334)gtggccfs	p.A778fs	ROBO3_ENST00000538940.1_Frame_Shift_Ins_p.A756fs	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3 (Drosophila)	778	Fibronectin type-III 3.				axon midline choice point recognition	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)		GGAGTGGCGGTGGCCTTGGGGG	0.604													8	40	---	---	---	---						G	124745491	-	G	124745490	7	5	359	1	0	1	1	0	0	0	0	0	13567	1696	59	0	2388	0	ROBO3	11	124745490	Frame_Shift_Ins	INS	-	TCGA-P5-A5F2-01A-11D-A289-08	68725016	124745490	10261026	30	31903											
GLB1L3	112937	broad.mit.edu	37	11	134147259	134147259	+	Silent	SNP	C	C	T			TCGA-P5-A5F2-01A-11D-A289-08	TCGA-P5-A5F2-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d51361-c4ad-4907-b18f-66991749ba1f	666497c6-2a20-4949-9a09-13e17e2a00f9	g.chr11:134147259C>T	ENST00000389887.5	+	2	2559	c.63C>T	c.(61-63)ttC>ttT	p.F21F	GLB1L3_ENST00000431683.2_Silent_p.F21F			Q8NCI6	GLBL3_HUMAN	galactosidase, beta 1-like 3	21					carbohydrate metabolic process		cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)	13	all_hematologic(175;0.127)	all_cancers(12;5.52e-23)|all_epithelial(12;2.15e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|all_neural(223;0.0182)|Medulloblastoma(222;0.0208)|Esophageal squamous(93;0.0559)		Epithelial(10;1.3e-11)|all cancers(11;2.07e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000873)|Lung(977;0.222)		GCATCTTTTTCCTGCCATTTA	0.542													5	45					0	0	1	0	0	T	134147259	C	T	134147259	2	4	359	1	0	0	0	0	0	0	0	1	6472	854	30	2		2	GLB1L3	11	134147259	Silent	SNP	C	TCGA-P5-A5F2-01A-11D-A289-08	9401769	134147259	859257	31	31904											
ETV6	2120	broad.mit.edu	37	12	11992227	11992227	+	Missense_Mutation	SNP	C	C	G			TCGA-P5-A5F2-01A-11D-A289-08	TCGA-P5-A5F2-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d51361-c4ad-4907-b18f-66991749ba1f	666497c6-2a20-4949-9a09-13e17e2a00f9	g.chr12:11992227C>G	ENST00000396373.4	+	3	591	c.317C>G	c.(316-318)tCt>tGt	p.S106C		NM_001987.4	NP_001978.1	P41212	ETV6_HUMAN	ets variant 6	106	PNT.					cytoplasm|nucleolus	protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.Y104fs*14(1)	ETV6/JAK2(11)|ETV6/ITPR2(2)|ETV6/NTRK3(238)	breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(15)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(2;1.88e-12)|Acute lymphoblastic leukemia(2;6.91e-39)|all_hematologic(2;2.7e-36)				CGCTATCGATCTCCTCATTCA	0.463			T	"NTRK3, RUNX1, PDGFRB, ABL1, MN1, ABL2, FACL6, CHIC2, ARNT, JAK2, EVI1, CDX2, STL, HLXB9, MDS2, PER1, SYK, TTL, FGFR3, PAX5"	"congenital fibrosarcoma, multiple leukemia and lymphoma,  secretory breast, MDS, ALL"								5	78					0	0	1	0	0	G	11992227	C	G	11992227	3	3	359	1	0	0	0	0	1	0	0	0	5311	913	32	4	327	4	ETV6	12	11992227	Missense_Mutation	SNP	C	TCGA-P5-A5F2-01A-11D-A289-08		11992227	121859668	32	31905											
NACA	4666	broad.mit.edu	37	12	57112308	57112308	+	Silent	SNP	A	A	G			TCGA-P5-A5F2-01A-11D-A289-08	TCGA-P5-A5F2-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d51361-c4ad-4907-b18f-66991749ba1f	666497c6-2a20-4949-9a09-13e17e2a00f9	g.chr12:57112308A>G	ENST00000454682.1	-	3	3287	c.3006T>C	c.(3004-3006)acT>acC	p.T1002T	NACA_ENST00000546392.1_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000551793.1_Intron	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN	nascent polypeptide-associated complex alpha subunit	0					interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						TGGGGGATGGAGTAGCTGGAC	0.652			T	BCL6	NHL								6	121					0	0	1	0	0	G	57112308	A	G	57112308	2	3	359	1	0	0	0	0	0	0	0	1	10181	291	11	3		3	NACA	12	57112308	Silent	SNP	A	TCGA-P5-A5F2-01A-11D-A289-08	45120081	57112308	76739587	33	31906											
CNOT2	4848	broad.mit.edu	37	12	70726595	70726595	+	Missense_Mutation	SNP	C	C	G			TCGA-P5-A5F2-01A-11D-A289-08	TCGA-P5-A5F2-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d51361-c4ad-4907-b18f-66991749ba1f	666497c6-2a20-4949-9a09-13e17e2a00f9	g.chr12:70726595C>G	ENST00000229195.3	+	7	1197	c.618C>G	c.(616-618)aaC>aaG	p.N206K	CNOT2_ENST00000548230.1_3'UTR|CNOT2_ENST00000418359.3_Missense_Mutation_p.N206K	NM_014515.5	NP_055330.1	Q9NZN8	CNOT2_HUMAN	CCR4-NOT transcription complex, subunit 2	206					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	protein binding|RNA polymerase II transcription cofactor activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(2)|urinary_tract(1)	20	Renal(347;0.236)		GBM - Glioblastoma multiforme(1;4.77e-09)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118)			GAATGAATAACTCCTTATCAA	0.318													29	60					0	0	1	0	0	G	70726595	C	G	70726595	3	3	359	1	0	0	0	0	1	0	0	0	3642	564	20	4	640	4	CNOT2	12	70726595	Missense_Mutation	SNP	C	TCGA-P5-A5F2-01A-11D-A289-08	13614287	70726595	63125300	34	31907											
PCDH17	27253	broad.mit.edu	37	13	58207144	58207144	+	Missense_Mutation	SNP	G	G	C			TCGA-P5-A5F2-01A-11D-A289-08	TCGA-P5-A5F2-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d51361-c4ad-4907-b18f-66991749ba1f	666497c6-2a20-4949-9a09-13e17e2a00f9	g.chr13:58207144G>C	ENST00000377918.3	+	1	490	c.464G>C	c.(463-465)aGc>aCc	p.S155T		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	155	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		CCCCTCACCAGCGCACATGAC	0.642													7	48					0	0	1	0	0	C	58207144	G	C	58207144	3	2	359	1	0	0	0	0	1	0	0	0	11559	971	34	4	466	4	PCDH17	13	58207144	Missense_Mutation	SNP	G	TCGA-P5-A5F2-01A-11D-A289-08		58207144	56962734	35	31908											
SLC12A1	6557	broad.mit.edu	37	15	48559802	48559803	+	Frame_Shift_Ins	INS	-	-	A	rs150609105	byFrequency	TCGA-P5-A5F2-01A-11D-A289-08	TCGA-P5-A5F2-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d51361-c4ad-4907-b18f-66991749ba1f	666497c6-2a20-4949-9a09-13e17e2a00f9	g.chr15:48559802_48559803insA	ENST00000396577.3	+	18	2414_2415	c.2199_2200insA	c.(2200-2202)aaafs	p.K734fs	SLC12A1_ENST00000380993.3_Frame_Shift_Ins_p.K734fs|SLC12A1_ENST00000558405.1_Frame_Shift_Ins_p.K734fs	NM_001184832.1	NP_001171761.1	Q13621	S12A1_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 1	734					potassium ion transport|sodium ion transport	integral to membrane|membrane fraction	sodium:potassium:chloride symporter activity			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1)	59		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	GTGGCATGGCGAAAAAACAGGC	0.446													7	103	---	---	---	---						A	48559803	-	A	48559802	7	5	359	1	0	1	1	0	0	0	0	0	14437	1045	37	0	2365	0	SLC12A1	15	48559802	Frame_Shift_Ins	INS	-	TCGA-P5-A5F2-01A-11D-A289-08		48559802	53971590	36	31909											
SLC12A3	6559	broad.mit.edu	37	16	56921899	56921899	+	Silent	SNP	G	G	A			TCGA-P5-A5F2-01A-11D-A289-08	TCGA-P5-A5F2-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d51361-c4ad-4907-b18f-66991749ba1f	666497c6-2a20-4949-9a09-13e17e2a00f9	g.chr16:56921899G>A	ENST00000438926.2	+	18	2270	c.2241G>A	c.(2239-2241)caG>caA	p.Q747Q	SLC12A3_ENST00000262502.5_Silent_p.Q746Q|SLC12A3_ENST00000566786.1_Silent_p.Q746Q|SLC12A3_ENST00000563236.1_Silent_p.Q747Q	NM_000339.2|NM_001126107.1|NM_001126108.1	NP_000330|NP_001119579.1|NP_001119580.1	P55017	S12A3_HUMAN	solute carrier family 12 (sodium/chloride transporter), member 3	747					sodium ion transmembrane transport	apical plasma membrane|integral to plasma membrane|membrane fraction	sodium:chloride symporter activity			breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	AGAACTGGCAGTCGGCTCACC	0.587													11	100					0	0	1	0	0	A	56921899	G	A	56921899	2	1	359	1	0	0	0	0	0	0	0	1	14439	1020	36	2		2	SLC12A3	16	56921899	Silent	SNP	G	TCGA-P5-A5F2-01A-11D-A289-08		56921899	33432854	37	31910											
TP53	7157	broad.mit.edu	37	17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	rs121913343		TCGA-P5-A5F2-01A-11D-A289-08	TCGA-P5-A5F2-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d51361-c4ad-4907-b18f-66991749ba1f	666497c6-2a20-4949-9a09-13e17e2a00f9	g.chr17:7577121G>A	ENST00000420246.2	-	8	949	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000413465.2_Intron|TP53_ENST00000269305.4_Missense_Mutation_p.R273C|TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000359597.4_Missense_Mutation_p.R273C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	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).		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.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			28	12					0	0	1	0	0	A	7577121	G	A	7577121	3	1	359	1	0	0	0	0	1	0	0	0	16442	1087	38	1	469	1	TP53	17	7577121	Missense_Mutation	SNP	G	TCGA-P5-A5F2-01A-11D-A289-08		7577121	73618089	38	31911											
RHOT1	55288	broad.mit.edu	37	17	30503008	30503008	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A5F2-01A-11D-A289-08	TCGA-P5-A5F2-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d51361-c4ad-4907-b18f-66991749ba1f	666497c6-2a20-4949-9a09-13e17e2a00f9	g.chr17:30503008G>A	ENST00000358365.3	+	5	477	c.250G>A	c.(250-252)Gtt>Att	p.V84I	RHOT1_ENST00000583994.1_5'UTR|RHOT1_ENST00000580976.1_Intron|RHOT1_ENST00000394692.2_Missense_Mutation_p.V84I|RHOT1_ENST00000333942.6_Missense_Mutation_p.V84I|RHOT1_ENST00000354266.3_Missense_Mutation_p.V63I|RHOT1_ENST00000545287.2_Missense_Mutation_p.V84I|RHOT1_ENST00000581094.1_Missense_Mutation_p.V84I	NM_001033568.1	NP_001028740.1	Q8IXI2	MIRO1_HUMAN	ras homolog family member T1	84	Miro 1.				apoptosis|cellular homeostasis|mitochondrion transport along microtubule|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to mitochondrial outer membrane|plasma membrane	calcium ion binding|GTP binding|GTPase activity|protein binding			NS(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28		Myeloproliferative disorder(56;0.0255)|Breast(31;0.116)|Ovarian(249;0.182)				AGTGTATGCCGTTAACAACAA	0.308													3	22					0	0	1	0	0	A	30503008	G	A	30503008	3	1	359	1	0	0	0	0	1	0	0	0	13393	1145	40	1	268	1	RHOT1	17	30503008	Missense_Mutation	SNP	G	TCGA-P5-A5F2-01A-11D-A289-08	22925887	30503008	50692202	39	31912											
MPO	4353	broad.mit.edu	37	17	56355276	56355276	+	Silent	SNP	G	G	A			TCGA-P5-A5F2-01A-11D-A289-08	TCGA-P5-A5F2-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d51361-c4ad-4907-b18f-66991749ba1f	666497c6-2a20-4949-9a09-13e17e2a00f9	g.chr17:56355276G>A	ENST00000340482.3	-	6	1388	c.1212C>T	c.(1210-1212)aaC>aaT	p.N404N	MPO_ENST00000225275.3_Silent_p.N372N|MPO_ENST00000578493.1_5'UTR			P05164	PERM_HUMAN	myeloperoxidase	372					anti-apoptosis|hydrogen peroxide catabolic process|low-density lipoprotein particle remodeling	extracellular space|lysosome|nucleus|stored secretory granule	chromatin binding|heme binding|heparin binding|peroxidase activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	46					Cefdinir(DB00535)	GGGCCCGGCCGTTGTCTTGGA	0.652													41	55					0	0	1	0	0	A	56355276	G	A	56355276	2	1	359	1	0	0	0	0	0	0	0	1	9781	1136	40	1		1	MPO	17	56355276	Silent	SNP	G	TCGA-P5-A5F2-01A-11D-A289-08	25852268	56355276	24839934	40	31913											
SCN4A	6329	broad.mit.edu	37	17	62036690	62036690	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A5F2-01A-11D-A289-08	TCGA-P5-A5F2-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d51361-c4ad-4907-b18f-66991749ba1f	666497c6-2a20-4949-9a09-13e17e2a00f9	g.chr17:62036690G>A	ENST00000578147.1	-	12	2030	c.1954C>T	c.(1954-1956)Ctc>Ttc	p.L652F	SCN4A_ENST00000435607.1_Missense_Mutation_p.L652F			P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	652					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	ACCAGGCTGAGGGTGACGATG	0.562													13	52					0	0	1	0	0	A	62036690	G	A	62036690	3	1	359	1	0	0	0	0	1	0	0	0	13974	1000	35	2	3608	2	SCN4A	17	62036690	Missense_Mutation	SNP	G	TCGA-P5-A5F2-01A-11D-A289-08	5681414	62036690	19158520	41	31914											
CD300LB	124599	broad.mit.edu	37	17	72522000	72522000	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A5F2-01A-11D-A289-08	TCGA-P5-A5F2-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d51361-c4ad-4907-b18f-66991749ba1f	666497c6-2a20-4949-9a09-13e17e2a00f9	g.chr17:72522000G>A	ENST00000392621.1	-	2	372	c.368C>T	c.(367-369)aCg>aTg	p.T123M	CD300LB_ENST00000314401.3_Missense_Mutation_p.T123M	NM_174892.2	NP_777552	A8K4G0	CLM7_HUMAN	CD300 molecule-like family member b	86						integral to membrane|plasma membrane	receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(1)	21						CACAGTGAACGTGCGGTCTTT	0.522													4	209					0	0	1	0	0	A	72522000	G	A	72522000	3	1	359	1	0	0	0	0	1	0	0	0	3021	1145	40	1	360	1	CD300LB	17	72522000	Missense_Mutation	SNP	G	TCGA-P5-A5F2-01A-11D-A289-08	10485310	72522000	8673210	42	31915											
IL27RA	9466	broad.mit.edu	37	19	14157389	14157389	+	Nonsense_Mutation	SNP	G	G	A			TCGA-P5-A5F2-01A-11D-A289-08	TCGA-P5-A5F2-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d51361-c4ad-4907-b18f-66991749ba1f	666497c6-2a20-4949-9a09-13e17e2a00f9	g.chr19:14157389G>A	ENST00000263379.2	+	8	1225	c.1100G>A	c.(1099-1101)tGg>tAg	p.W367*		NM_004843.3	NP_004834.1	Q6UWB1	I27RA_HUMAN	interleukin 27 receptor, alpha	367	Fibronectin type-III 2.				cell surface receptor linked signaling pathway|immune response	integral to plasma membrane	transmembrane receptor activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	26						AAACTCAACTGGGTCCGGCTT	0.632													60	119					0	0	1	0	0	A	14157389	G	A	14157389	4	1	359	1	0	0	0	0	0	1	0	0	7725	1357	47	2	1130	2	IL27RA	19	14157389	Nonsense_Mutation	SNP	G	TCGA-P5-A5F2-01A-11D-A289-08		14157389	44971594	43	31916											
USE1	55850	broad.mit.edu	37	19	17330605	17330605	+	Missense_Mutation	SNP	A	A	G			TCGA-P5-A5F2-01A-11D-A289-08	TCGA-P5-A5F2-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d51361-c4ad-4907-b18f-66991749ba1f	666497c6-2a20-4949-9a09-13e17e2a00f9	g.chr19:17330605A>G	ENST00000445667.2	+	8	823	c.763A>G	c.(763-765)Atg>Gtg	p.M255V	USE1_ENST00000596136.1_3'UTR|USE1_ENST00000379776.4_3'UTR|USE1_ENST00000263897.5_Missense_Mutation_p.M255V			Q9NZ43	USE1_HUMAN	unconventional SNARE in the ER 1 homolog (S. cerevisiae)	255					lysosomal transport|protein catabolic process|protein transport|secretion by cell|vesicle-mediated transport	endoplasmic reticulum membrane|integral to membrane	protein binding			breast(2)|endometrium(1)|lung(3)	6						CATTCGAATCATGCCTAAACT	0.522													4	188					0	0	1	0	0	G	17330605	A	G	17330605	3	3	359	1	0	0	0	0	1	0	0	0	17091	217	8	3	793	3	USE1	19	17330605	Missense_Mutation	SNP	A	TCGA-P5-A5F2-01A-11D-A289-08	3173216	17330605	41798378	44	31917											
IFNAR1	3454	broad.mit.edu	37	21	34717551	34717551	+	Splice_Site	SNP	G	G	C			TCGA-P5-A5F2-01A-11D-A289-08	TCGA-P5-A5F2-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d51361-c4ad-4907-b18f-66991749ba1f	666497c6-2a20-4949-9a09-13e17e2a00f9	g.chr21:34717551G>C	ENST00000270139.3	+	6	825		c.e6-1		IFNAR1_ENST00000416947.2_Splice_Site|IFNAR1_ENST00000442357.2_Splice_Site	NM_000629.2	NP_000620.2	P17181	INAR1_HUMAN	interferon (alpha, beta and omega) receptor 1						JAK-STAT cascade|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	integral to plasma membrane	type I interferon receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|skin(2)	14					Interferon Alfa-2a, Recombinant(DB00034)|Interferon Alfa-2b, Recombinant(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1b(DB00068)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)	TTGGCTTCTAGTTGAAAATGA	0.328													5	29					0	0	1	0	0	C	34717551	G	C	34717551	5	2	359	1	0	0	0	0	0	0	1	0	7588	1043	36	4	695	4	IFNAR1	21	34717551	Splice_Site	SNP	G	TCGA-P5-A5F2-01A-11D-A289-08		34717551	13412344	45	31918											
ATRX	546	broad.mit.edu	37	X	76920192	76920193	+	Translation_Start_Site	INS	-	-	TCATCAT			TCGA-P5-A5F2-01A-11D-A289-08	TCGA-P5-A5F2-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d51361-c4ad-4907-b18f-66991749ba1f	666497c6-2a20-4949-9a09-13e17e2a00f9	g.chrX:76920192_76920193insTCATCAT	ENST00000480283.1	-	0	4221_4222				ATRX_ENST00000395603.3_Frame_Shift_Ins_p.-1257fs|ATRX_ENST00000373344.5_Frame_Shift_Ins_p.-1295fs			P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked						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)	CTTCTTCTGGCTCATCATCTGA	0.351			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						27	72	---	---	---	---						TCATCAT	76920193	-	TCATCAT	76920192	6	5	359	1	0	1	1	0	0	0	0	0	1206	796	28	0		0	ATRX	23	76920192	Translation_Start_Site	INS	-	TCGA-P5-A5F2-01A-11D-A289-08		76920192	78350368	46	31919											
GUCY2F	2986	broad.mit.edu	37	X	108718947	108718947	+	Missense_Mutation	SNP	C	C	A			TCGA-P5-A5F2-01A-11D-A289-08	TCGA-P5-A5F2-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d51361-c4ad-4907-b18f-66991749ba1f	666497c6-2a20-4949-9a09-13e17e2a00f9	g.chrX:108718947C>A	ENST00000218006.2	-	2	510	c.219G>T	c.(217-219)gaG>gaT	p.E73D		NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN	guanylate cyclase 2F, retinal	73					intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						GCGCAGCAACCTCAGGCAGGG	0.517											OREG0019905	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	15	197					2.31682e-05	2.38209e-05	1	1	0	A	108718947	C	A	108718947	3	1	359	1	0	0	0	0	1	0	0	0	6939	680	24	4	3179	4	GUCY2F	23	108718947	Missense_Mutation	SNP	C	TCGA-P5-A5F2-01A-11D-A289-08	31798755	108718947	46551613	47	31920											
MAGEA6	4105	broad.mit.edu	37	X	151870086	151870086	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A5F2-01A-11D-A289-08	TCGA-P5-A5F2-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d51361-c4ad-4907-b18f-66991749ba1f	666497c6-2a20-4949-9a09-13e17e2a00f9	g.chrX:151870086G>A	ENST00000329342.5	+	3	1001	c.776G>A	c.(775-777)cGg>cAg	p.R259Q		NM_005363.2	NP_005354.1	P43360	MAGA6_HUMAN	melanoma antigen family A, 6	259	MAGE.						protein binding	p.R259Q(1)		breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					CTGGAGTACCGGCAGGTCCCC	0.522													7	315					0	0	1	0	0	A	151870086	G	A	151870086	3	1	359	1	0	0	0	0	1	0	0	0	9218	1116	39	1	778	1	MAGEA6	23	151870086	Missense_Mutation	SNP	G	TCGA-P5-A5F2-01A-11D-A289-08	43151139	151870086	3400474	48	31921											
NUP210L	91181	broad.mit.edu	37	1	154062057	154062057	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr1:154062057C>T	ENST00000368559.3	-	16	2272	c.2201G>A	c.(2200-2202)cGa>cAa	p.R734Q	NUP210L_ENST00000271854.3_Missense_Mutation_p.R734Q	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	734						integral to membrane				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			ATTTCCAATTCGGAATGTGAG	0.423													5	73					0	0	1	0	0	T	154062057	C	T	154062057	3	4	360	1	0	0	0	0	1	0	0	0	10809	884	31	1	3565	1	NUP210L	1	154062057	Missense_Mutation	SNP	C	TCGA-P5-A5F4-01A-11D-A289-08		154062057	95188564	1	31922											
DQX1	165545	broad.mit.edu	37	2	74750021	74750021	+	Missense_Mutation	SNP	A	A	G			TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr2:74750021A>G	ENST00000404568.3	-	7	1484	c.1265T>C	c.(1264-1266)aTt>aCt	p.I422T	DQX1_ENST00000393951.2_Missense_Mutation_p.I422T	NM_133637.2	NP_598376.2	Q8TE96	DQX1_HUMAN	DEAQ box RNA-dependent ATPase 1	422	Helicase C-terminal.					nucleus	ATP binding|helicase activity|nucleic acid binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	18						TGGCTCTGCAATCTGTCTCCT	0.522													53	79					0	0	1	0	0	G	74750021	A	G	74750021	3	3	360	1	0	0	0	0	1	0	0	0	4777	101	4	3	912	3	DQX1	2	74750021	Missense_Mutation	SNP	A	TCGA-P5-A5F4-01A-11D-A289-08		74750021	168449352	2	31923											
IDH1	3417	broad.mit.edu	37	2	209113113	209113113	+	Missense_Mutation	SNP	G	G	A	rs121913499		TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr2:209113113G>A	ENST00000415913.1	-	4	775	c.394C>T	c.(394-396)Cgt>Tgt	p.R132C	IDH1_ENST00000446179.1_Missense_Mutation_p.R132C|IDH1_ENST00000345146.2_Missense_Mutation_p.R132C	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		TAAGCATGACGACCTATGATG	0.398			Mis		gliobastoma								19	42					0	0	1	0	0	A	209113113	G	A	209113113	3	1	360	1	0	0	0	0	1	0	0	0	7538	1058	37	1	878	1	IDH1	2	209113113	Missense_Mutation	SNP	G	TCGA-P5-A5F4-01A-11D-A289-08	134363092	209113113	34086260	3	31924											
FANCD2	2177	broad.mit.edu	37	3	10107141	10107141	+	Silent	SNP	G	G	A			TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr3:10107141G>A	ENST00000287647.3	+	24	2325	c.2232G>A	c.(2230-2232)caG>caA	p.Q744Q	FANCD2_ENST00000383807.1_Silent_p.Q744Q|FANCD2_ENST00000383806.1_Silent_p.Q744Q|FANCD2_ENST00000419585.1_Silent_p.Q744Q	NM_033084.3	NP_149075.2	Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	744					DNA repair|response to gamma radiation	nucleoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		TGGAGAGACAGCATAACGGAA	0.428			"D, Mis, N, F"			"AML, leukemia"		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				4	114					0	0	1	0	0	A	10107141	G	A	10107141	2	1	360	1	0	0	0	0	0	0	0	1	5698	962	34	2		2	FANCD2	3	10107141	Silent	SNP	G	TCGA-P5-A5F4-01A-11D-A289-08		10107141	187915289	4	31925											
STT3B	201595	broad.mit.edu	37	3	31638330	31638330	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr3:31638330G>A	ENST00000295770.2	+	4	961	c.752G>A	c.(751-753)tGc>tAc	p.C251Y	STT3B_ENST00000453168.1_3'UTR	NM_178862.1	NP_849193.1	Q8TCJ2	STT3B_HUMAN	STT3B, subunit of the oligosaccharyltransferase complex (catalytic)	251					protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding			autonomic_ganglia(1)|biliary_tract(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	19						TGGACAATGTGCTGCTGCTTA	0.318													5	62					0	0	1	0	0	A	31638330	G	A	31638330	3	1	360	1	0	0	0	0	1	0	0	0	15390	1319	46	2	766	2	STT3B	3	31638330	Missense_Mutation	SNP	G	TCGA-P5-A5F4-01A-11D-A289-08	21531189	31638330	166384100	5	31926											
GATA2	2624	broad.mit.edu	37	3	128202816	128202816	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr3:128202816C>T	ENST00000341105.2	-	4	1235	c.904G>A	c.(904-906)Gcc>Acc	p.A302T	GATA2_ENST00000430265.2_Missense_Mutation_p.A302T|GATA2_ENST00000487848.1_Missense_Mutation_p.A302T	NM_032638.4	NP_116027.2	P23769	GATA2_HUMAN	GATA binding protein 2	302					blood coagulation|negative regulation of fat cell differentiation|negative regulation of fat cell proliferation|negative regulation of neural precursor cell proliferation|negative regulation of Notch signaling pathway|phagocytosis|positive regulation of angiogenesis|positive regulation of phagocytosis|positive regulation of transcription from RNA polymerase II promoter	nucleoplasm	C2H2 zinc finger domain binding|chromatin binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding	p.A302S(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(58)|kidney(2)|large_intestine(3)|lung(9)|prostate(3)|skin(1)|urinary_tract(1)	79				GBM - Glioblastoma multiforme(114;0.173)		AGAGGGGTGGCTGTGGCCCCA	0.642			Mis		AML(CML blast transformation)								5	88					0	0	1	0	0	T	128202816	C	T	128202816	3	4	360	1	0	0	0	0	1	0	0	0	6294	797	28	2	550	2	GATA2	3	128202816	Missense_Mutation	SNP	C	TCGA-P5-A5F4-01A-11D-A289-08	96564486	128202816	69819614	6	31927											
SMC4	10051	broad.mit.edu	37	3	160122126	160122126	+	Missense_Mutation	SNP	A	A	C			TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr3:160122126A>C	ENST00000357388.3	+	5	972	c.521A>C	c.(520-522)gAt>gCt	p.D174A	RP11-432B6.3_ENST00000483754.1_Intron|SMC4_ENST00000360111.2_Missense_Mutation_p.D174A|SMC4_ENST00000470240.1_3'UTR|SMC4_ENST00000462787.1_Missense_Mutation_p.D174A|SMC4_ENST00000469762.1_Missense_Mutation_p.D149A|SMC4_ENST00000344722.5_Missense_Mutation_p.D174A	NM_001002800.1	NP_001002800.1	Q9NTJ3	SMC4_HUMAN	structural maintenance of chromosomes 4	174					cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	ATP binding|protein heterodimerization activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			GAAGGGGATGATTATGAAGTC	0.338													6	17					0	0	1	0	0	C	160122126	A	C	160122126	3	2	360	1	0	0	0	0	1	0	0	0	14839	333	12	4	535	4	SMC4	3	160122126	Missense_Mutation	SNP	A	TCGA-P5-A5F4-01A-11D-A289-08	31919310	160122126	37900304	7	31928											
KLB	152831	broad.mit.edu	37	4	39448955	39448955	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr4:39448955G>A	ENST00000257408.4	+	4	2706	c.2609G>A	c.(2608-2610)cGc>cAc	p.R870H		NM_175737.3	NP_783864.1	Q86Z14	KLOTB_HUMAN	klotho beta	870	Glycosyl hydrolase-1 2.				carbohydrate metabolic process	integral to membrane|plasma membrane	cation binding|fibroblast growth factor binding|hydrolase activity, hydrolyzing O-glycosyl compounds			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|skin(6)	29						TGGGGGGTGCGCAAGCTGCTG	0.657													5	162					0	0	1	0	0	A	39448955	G	A	39448955	3	1	360	1	0	0	0	0	1	0	0	0	8375	1087	38	1	2623	1	KLB	4	39448955	Missense_Mutation	SNP	G	TCGA-P5-A5F4-01A-11D-A289-08		39448955	151705321	8	31929											
PRDM1	639	broad.mit.edu	37	6	106553787	106553787	+	Silent	SNP	C	C	T			TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr6:106553787C>T	ENST00000369096.4	+	5	1986	c.1752C>T	c.(1750-1752)ttC>ttT	p.F584F	PRDM1_ENST00000369091.2_Silent_p.F548F|PRDM1_ENST00000369089.3_Silent_p.F450F	NM_001198.3	NP_001189.2	O75626	PRDM1_HUMAN	PR domain containing 1, with ZNF domain	584					negative regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.?(1)		NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(59)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(5)|urinary_tract(2)	94	Breast(9;0.022)	all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365)		all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05)		CCAAGACTTTCGGCCAGCTCT	0.493			"D, N, Mis, F, S"		DLBCL								4	57					0	0	1	0	0	T	106553787	C	T	106553787	2	4	360	1	0	0	0	0	0	0	0	1	12502	883	31	1		1	PRDM1	6	106553787	Silent	SNP	C	TCGA-P5-A5F4-01A-11D-A289-08		106553787	64561280	9	31930											
KLHL7	55975	broad.mit.edu	37	7	23213883	23213883	+	Missense_Mutation	SNP	C	C	G			TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr7:23213883C>G	ENST00000339077.5	+	11	1970	c.1727C>G	c.(1726-1728)aCt>aGt	p.T576S	KLHL7_ENST00000322231.7_Missense_Mutation_p.T554S|KLHL7_ENST00000539124.1_Missense_Mutation_p.T500S|AC005082.1_ENST00000366347.4_Intron|KLHL7_ENST00000409689.1_Missense_Mutation_p.T528S|KLHL7_ENST00000542558.1_Missense_Mutation_p.T351S|KLHL7_ENST00000545443.1_Missense_Mutation_p.T554S	NM_001031710.2	NP_001026880.2	Q8IXQ5	KLHL7_HUMAN	kelch-like family member 7							Golgi apparatus|nucleolus|plasma membrane				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						GTTGTCGATACTTGTGGAGCA	0.408													15	66					0	0	1	0	0	G	23213883	C	G	23213883	3	3	360	1	0	0	0	0	1	0	0	0	8437	565	20	4	1832	4	KLHL7	7	23213883	Missense_Mutation	SNP	C	TCGA-P5-A5F4-01A-11D-A289-08		23213883	135924780	10	31931											
ZNF117	51351	broad.mit.edu	37	7	64441776	64441776	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr7:64441776G>A	ENST00000282869.6	-	3	1307	c.23C>T	c.(22-24)gCt>gTt	p.A8V		NM_015852.3	NP_056936.2	Q03924	ZN117_HUMAN	zinc finger protein 117							nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(1)|skin(1)	22		Lung NSC(55;0.0295)|all_lung(88;0.0691)				TAAATGTTTAGCTACCATCTC	0.423													18	106					0	0	1	0	0	A	64441776	G	A	64441776	3	1	360	1	0	0	0	0	1	0	0	0	17775	971	34	2	1436	2	ZNF117	7	64441776	Missense_Mutation	SNP	G	TCGA-P5-A5F4-01A-11D-A289-08	41227893	64441776	94696887	11	31932											
ZKSCAN1	7586	broad.mit.edu	37	7	99631511	99631511	+	Silent	SNP	T	T	C			TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr7:99631511T>C	ENST00000324306.6	+	6	1617	c.1383T>C	c.(1381-1383)taT>taC	p.Y461Y	ZKSCAN1_ENST00000535170.1_Silent_p.Y248Y|ZKSCAN1_ENST00000426572.1_Silent_p.Y425Y	NM_003439.1	NP_003430.1	P17029	ZKSC1_HUMAN	zinc finger with KRAB and SCAN domains 1	461					viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(5)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			AGAAACCTTATGAATGTAATG	0.502													104	153					0	0	1	0	0	C	99631511	T	C	99631511	2	2	360	1	0	0	0	0	0	0	0	1	17744	1471	51	3		3	ZKSCAN1	7	99631511	Silent	SNP	T	TCGA-P5-A5F4-01A-11D-A289-08	35189735	99631511	59507152	12	31933											
GATA4	2626	broad.mit.edu	37	8	11606556	11606556	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr8:11606556G>A	ENST00000335135.4	+	3	1303	c.745G>A	c.(745-747)Ggc>Agc	p.G249S	GATA4_ENST00000528712.1_Missense_Mutation_p.G43S|GATA4_ENST00000532059.1_Missense_Mutation_p.G250S	NM_002052.3	NP_002043.2	P43694	GATA4_HUMAN	GATA binding protein 4	249					atrial septum primum morphogenesis|atrial septum secundum morphogenesis|blood coagulation|cardiac right ventricle morphogenesis|cell-cell signaling|embryonic foregut morphogenesis|embryonic heart tube anterior/posterior pattern formation|endocardial cushion development|endoderm development|heart looping|intestinal epithelial cell differentiation|male gonad development|positive regulation of angiogenesis|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation vascular endothelial growth factor production|response to drug|transcription from RNA polymerase II promoter|ventricular septum development	nucleoplasm	activating transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(10)	13	all_epithelial(15;0.0839)		STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.199)		CAAGATGAACGGCATCAACCG	0.637													11	69					0	0	1	0	0	A	11606556	G	A	11606556	3	1	360	1	0	0	0	0	1	0	0	0	6296	1116	39	1	751	1	GATA4	8	11606556	Missense_Mutation	SNP	G	TCGA-P5-A5F4-01A-11D-A289-08		11606556	134757466	13	31934											
C8orf47	203111	broad.mit.edu	37	8	99102249	99102249	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr8:99102249G>A	ENST00000318528.3	+	2	1363	c.1004G>A	c.(1003-1005)cGc>cAc	p.R335H	C8orf47_ENST00000545282.1_Intron	NM_173549.2	NP_775820.2	Q6P6B1	CH047_HUMAN	chromosome 8 open reading frame 47	335	Glu-rich.									kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(2)	13	Breast(36;2.31e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.214)			GAGGACCAACGCATTGAAGGT	0.483													24	60					0	0	1	0	0	A	99102249	G	A	99102249	3	1	360	1	0	0	0	0	1	0	0	0	2449	1087	38	1	1010	1	C8orf47	8	99102249	Missense_Mutation	SNP	G	TCGA-P5-A5F4-01A-11D-A289-08	87495693	99102249	47261773	14	31935											
PALM2-AKAP2	445815	broad.mit.edu	37	9	112918731	112918731	+	Missense_Mutation	SNP	A	A	G			TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr9:112918731A>G	ENST00000374530.3	+	9	3308	c.3128A>G	c.(3127-3129)tAt>tGt	p.Y1043C	AKAP2_ENST00000259318.7_Missense_Mutation_p.Y812C|AKAP2_ENST00000482335.1_Intron|AKAP2_ENST00000555236.1_Missense_Mutation_p.Y1043C|AKAP2_ENST00000434623.2_Missense_Mutation_p.Y901C|PALM2-AKAP2_ENST00000302798.7_Missense_Mutation_p.Y1043C|AKAP2_ENST00000510514.5_Missense_Mutation_p.Y1043C|AKAP2_ENST00000374525.1_Missense_Mutation_p.Y901C	NM_007203.4|NM_147150.2	NP_009134.1|NP_671492.1	Q9Y2D5	AKAP2_HUMAN		812							enzyme binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	44						ATGGAAGACTATGAGACACAC	0.537													13	70					0	0	1	0	0	G	112918731	A	G	112918731	3	3	360	1	0	0	0	0	1	0	0	0	11457	449	16	3	3162	3	PALM2-AKAP2	9	112918731	Missense_Mutation	SNP	A	TCGA-P5-A5F4-01A-11D-A289-08		112918731	28294700	15	31936											
EMX2	2018	broad.mit.edu	37	10	119303012	119303012	+	Silent	SNP	G	G	C			TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr10:119303012G>C	ENST00000553456.3	+	1	1058	c.234G>C	c.(232-234)ccG>ccC	p.P78P	EMX2OS_ENST00000551288.1_RNA|EMX2_ENST00000442245.4_Silent_p.P78P	NM_004098.3	NP_004089.1	Q04743	EMX2_HUMAN	empty spiracles homeobox 2	78						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|prostate(2)	12		Colorectal(252;0.109)|Lung NSC(174;0.179)|all_lung(145;0.22)		all cancers(201;0.0133)		TCTCGCACCCGCCCAACCCCG	0.741													10	25					0	0	1	0	0	C	119303012	G	C	119303012	2	2	360	1	0	0	0	0	0	0	0	1	5136	1074	38	5		5	EMX2	10	119303012	Silent	SNP	G	TCGA-P5-A5F4-01A-11D-A289-08		119303012	16231735	16	31937											
PKP3	11187	broad.mit.edu	37	11	397651	397651	+	Missense_Mutation	SNP	G	G	A	rs148819261		TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr11:397651G>A	ENST00000331563.2	+	4	1133	c.1057G>A	c.(1057-1059)Gcc>Acc	p.A353T		NM_007183.2	NP_009114.1	Q9Y446	PKP3_HUMAN	plakophilin 3	353					cell adhesion	desmosome|nucleus	binding			breast(1)|central_nervous_system(1)|endometrium(3)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CGATGCAGCCGCCAAGAAGCA	0.637													7	55					0	0	1	0	0	A	397651	G	A	397651	3	1	360	1	0	0	0	0	1	0	0	0	12034	1087	38	1	1071	1	PKP3	11	397651	Missense_Mutation	SNP	G	TCGA-P5-A5F4-01A-11D-A289-08		397651	134608865	17	31938											
AP2A2	161	broad.mit.edu	37	11	986944	986944	+	Silent	SNP	C	C	T			TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr11:986944C>T	ENST00000448903.2	+	9	1263	c.1122C>T	c.(1120-1122)aaC>aaT	p.N374N	AP2A2_ENST00000332231.5_Silent_p.N375N|AP2A2_ENST00000534328.1_Intron	NM_001242837.1|NM_012305.3	NP_001229766.1|NP_036437.1	O94973	AP2A2_HUMAN	adaptor-related protein complex 2, alpha 2 subunit	374					axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction	AP-2 adaptor complex|cytosol	lipid binding|protein transporter activity			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)	21		all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.75e-24)|BRCA - Breast invasive adenocarcinoma(625;5.73e-05)|Lung(200;0.0696)|LUSC - Lung squamous cell carcinoma(625;0.082)		CGGTCATCAACGCCCTGAAGG	0.617													3	12					0	0	1	0	0	T	986944	C	T	986944	2	4	360	1	0	0	0	0	0	0	0	1	736	535	19	1		1	AP2A2	11	986944	Silent	SNP	C	TCGA-P5-A5F4-01A-11D-A289-08	589293	986944	134019572	18	31939											
PRDM11	56981	broad.mit.edu	37	11	45117366	45117366	+	Missense_Mutation	SNP	A	A	G			TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr11:45117366A>G	ENST00000263765.4	+	2	259	c.10A>G	c.(10-12)Atg>Gtg	p.M4V	PRDM11_ENST00000530656.1_Missense_Mutation_p.M4V			Q9NQV5	PRD11_HUMAN	PR domain containing 11	4										endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	26						aatgttgaagatggcagagcc	0.507													27	51					0	0	1	0	0	G	45117366	A	G	45117366	3	3	360	1	0	0	0	0	1	0	0	0	12504	333	12	3	12	3	PRDM11	11	45117366	Missense_Mutation	SNP	A	TCGA-P5-A5F4-01A-11D-A289-08	44130422	45117366	89889150	19	31940											
OR5D18	219438	broad.mit.edu	37	11	55587452	55587452	+	Nonsense_Mutation	SNP	T	T	G			TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr11:55587452T>G	ENST00000333976.4	+	1	367	c.347T>G	c.(346-348)tTa>tGa	p.L116*		NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D, member 18	116					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				TCCTTTTTATTAGCTGTGATG	0.443													70	114					0	0	1	0	0	G	55587452	T	G	55587452	4	3	360	1	0	0	0	0	0	1	0	0	11204	1764	61	5	349	5	OR5D18	11	55587452	Nonsense_Mutation	SNP	T	TCGA-P5-A5F4-01A-11D-A289-08	10470086	55587452	79419064	20	31941											
TMEM216	51259	broad.mit.edu	37	11	61161357	61161357	+	Splice_Site	SNP	T	T	G			TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr11:61161357T>G	ENST00000515837.2	+	3	1083	c.138T>G	c.(136-138)ggT>ggG	p.G46G	TMEM216_ENST00000398979.3_5'UTR|TMEM216_ENST00000334888.5_Splice_Site_p.G46G			Q9P0N5	TM216_HUMAN	transmembrane protein 216	39						integral to membrane		p.G46G(3)		endometrium(1)|large_intestine(2)|lung(1)|prostate(2)	6						TATTGGCAGGTGTCCTGCTAC	0.438													7	23					0	0	1	0	0	G	61161357	T	G	61161357	5	3	360	1	0	0	0	0	0	0	1	0	16199	1710	59	5	148	5	TMEM216	11	61161357	Splice_Site	SNP	T	TCGA-P5-A5F4-01A-11D-A289-08	5573905	61161357	73845159	21	31942											
PDE2A	5138	broad.mit.edu	37	11	72292936	72292936	+	Missense_Mutation	SNP	C	C	A			TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr11:72292936C>A	ENST00000334456.5	-	22	2152	c.1907G>T	c.(1906-1908)tGc>tTc	p.C636F	PDE2A_ENST00000444035.2_Missense_Mutation_p.C627F|PDE2A_ENST00000376450.3_Missense_Mutation_p.C380F|PDE2A_ENST00000418754.2_Missense_Mutation_p.C521F|PDE2A_ENST00000540345.1_Missense_Mutation_p.C627F|PDE2A_ENST00000544570.1_Missense_Mutation_p.C629F	NM_002599.4	NP_002590.1	O00408	PDE2A_HUMAN	phosphodiesterase 2A, cGMP-stimulated	636	Catalytic (By similarity).				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity|metal ion binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	36			BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		Sildenafil(DB00203)|Sulindac(DB00605)	CAGGGTCGGGCAGTCAATTTT	0.577													9	63					2.74318e-10	2.88507e-10	1	1	0	A	72292936	C	A	72292936	3	1	360	1	0	0	0	0	1	0	0	0	11683	710	25	5	958	5	PDE2A	11	72292936	Missense_Mutation	SNP	C	TCGA-P5-A5F4-01A-11D-A289-08	11131579	72292936	62713580	22	31943											
ANO2	57101	broad.mit.edu	37	12	5708718	5708718	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr12:5708718G>A	ENST00000327087.8	-	21	2236	c.2165C>T	c.(2164-2166)cCa>cTa	p.P722L	ANO2_ENST00000546188.1_Missense_Mutation_p.P723L|ANO2_ENST00000356134.5_Missense_Mutation_p.P723L	NM_001278597.1	NP_001265526.1	Q9NQ90	ANO2_HUMAN	anoctamin 2	727						chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						CCACTGCTCTGGATGTTTCGA	0.473													21	115					0	0	1	0	0	A	5708718	G	A	5708718	3	1	360	1	0	0	0	0	1	0	0	0	691	1348	47	2	855	2	ANO2	12	5708718	Missense_Mutation	SNP	G	TCGA-P5-A5F4-01A-11D-A289-08		5708718	128143177	23	31944											
LAG3	3902	broad.mit.edu	37	12	6882941	6882942	+	Frame_Shift_Ins	INS	-	-	C			TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr12:6882941_6882942insC	ENST00000203629.2	+	3	618_619	c.285_286insC	c.(286-288)cccfs	p.P96fs	LAG3_ENST00000441671.2_Frame_Shift_Ins_p.P96fs	NM_002286.5	NP_002277.4	P18627	LAG3_HUMAN	lymphocyte-activation gene 3	96	Ig-like V-type.					integral to membrane	antigen binding|MHC class II protein binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						GGGGGCCCAGGCCCCGCCGCTA	0.792													3	5	---	---	---	---						C	6882942	-	C	6882941	7	5	360	1	0	1	1	0	0	0	0	0	8639	1194	42	0	295	0	LAG3	12	6882941	Frame_Shift_Ins	INS	-	TCGA-P5-A5F4-01A-11D-A289-08	1174223	6882941	126968954	24	31945											
GPR162	27239	broad.mit.edu	37	12	6933811	6933811	+	Silent	SNP	C	C	A			TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr12:6933811C>A	ENST00000311268.3	+	2	1534	c.747C>A	c.(745-747)gcC>gcA	p.A249A	GPR162_ENST00000382315.3_Intron|GPR162_ENST00000428545.2_Intron	NM_019858.1	NP_062832.1	Q16538	GP162_HUMAN	G protein-coupled receptor 162	249						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(1)	18						TGGAGGATGCCCGAGGGAAGC	0.642													4	93					2.56e-06	2.60267e-06	1	1	0	A	6933811	C	A	6933811	2	1	360	1	0	0	0	0	0	0	0	1	6706	610	22	5		5	GPR162	12	6933811	Silent	SNP	C	TCGA-P5-A5F4-01A-11D-A289-08	50870	6933811	126918084	25	31946											
PEX5	5830	broad.mit.edu	37	12	7362771	7362771	+	Silent	SNP	C	C	T	rs148914171	byFrequency	TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr12:7362771C>T	ENST00000266563.5	+	15	1944	c.1761C>T	c.(1759-1761)gaC>gaT	p.D587D	PEX5_ENST00000434354.2_Silent_p.D639D|PEX5_ENST00000266564.3_Silent_p.D616D|PEX5_ENST00000412720.2_Silent_p.D645D|PEX5_ENST00000455147.2_Silent_p.D624D|PEX5_ENST00000420616.2_Silent_p.D624D	NM_001131024.1	NP_001124496.1	P50542	PEX5_HUMAN	peroxisomal biogenesis factor 5	624					protein import into peroxisome matrix, translocation|protein targeting to peroxisome|protein tetramerization|protein transport	cytosol|peroxisomal matrix|peroxisomal membrane	peroxisome matrix targeting signal-1 binding|protein C-terminus binding|protein N-terminus binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)	21						GGGCAGCCGACGCGCGGGATC	0.627													15	104					0	0	1	0	0	T	7362771	C	T	7362771	2	4	360	1	0	0	0	0	0	0	0	1	11796	535	19	1		1	PEX5	12	7362771	Silent	SNP	C	TCGA-P5-A5F4-01A-11D-A289-08	428960	7362771	126489124	26	31947											
SLCO1B3	28234	broad.mit.edu	37	12	21028269	21028269	+	Silent	SNP	T	T	C			TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr12:21028269T>C	ENST00000381545.3	+	9	1047	c.828T>C	c.(826-828)ttT>ttC	p.F276F	SLCO1B3_ENST00000261196.2_Silent_p.F276F|SLCO1B7_ENST00000554957.1_Intron|LST3_ENST00000540229.1_Silent_p.F276F|LST3_ENST00000381541.3_Intron|SLCO1B3_ENST00000553473.1_Silent_p.F276F	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family, member 1B3	276					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)					CCATACCATTTTTTTTCTTGC	0.358													32	65					0	0	1	0	0	C	21028269	T	C	21028269	2	2	360	1	0	0	0	0	0	0	0	1	14779	1838	64	3		3	SLCO1B3	12	21028269	Silent	SNP	T	TCGA-P5-A5F4-01A-11D-A289-08	13665498	21028269	112823626	27	31948											
KRT73	319101	broad.mit.edu	37	12	53010008	53010008	+	Missense_Mutation	SNP	C	C	G			TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr12:53010008C>G	ENST00000305748.3	-	2	638	c.604G>C	c.(604-606)Gtg>Ctg	p.V202L		NM_175068.2	NP_778238.1	Q86Y46	K2C73_HUMAN	keratin 73	202	Coil 1B.|Rod.					keratin filament	structural molecule activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.189)		TCCAGCCTCACCCTGTCCCCA	0.612													25	110					0	0	1	0	0	G	53010008	C	G	53010008	3	3	360	1	0	0	0	0	1	0	0	0	8529	507	18	5	1050	5	KRT73	12	53010008	Missense_Mutation	SNP	C	TCGA-P5-A5F4-01A-11D-A289-08	31981739	53010008	80841887	28	31949											
ITGA5	3678	broad.mit.edu	37	12	54795993	54795993	+	Missense_Mutation	SNP	C	C	G			TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr12:54795993C>G	ENST00000293379.4	-	20	2365	c.2104G>C	c.(2104-2106)Gag>Cag	p.E702Q	RP11-753H16.5_ENST00000552785.1_RNA|RP11-753H16.3_ENST00000550474.1_RNA	NM_002205.2	NP_002196.2	P08648	ITA5_HUMAN	integrin, alpha 5 (fibronectin receptor, alpha polypeptide)	702					angiogenesis|axon guidance|blood coagulation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|wound healing, spreading of epidermal cells	alphav-beta3 integrin-vitronectin complex|integrin complex|ruffle	platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	34						CCTGAGTACTCAGCCTCTGGA	0.587													19	56					0	0	1	0	0	G	54795993	C	G	54795993	3	3	360	1	0	0	0	0	1	0	0	0	7923	835	29	5	1089	5	ITGA5	12	54795993	Missense_Mutation	SNP	C	TCGA-P5-A5F4-01A-11D-A289-08	1785985	54795993	79055902	29	31950											
PTPRB	5787	broad.mit.edu	37	12	70949900	70949900	+	Silent	SNP	G	G	A			TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr12:70949900G>A	ENST00000334414.6	-	19	4787	c.4743C>T	c.(4741-4743)tgC>tgT	p.C1581C	PTPRB_ENST00000538708.1_Silent_p.C1273C|PTPRB_ENST00000261266.5_Silent_p.C1363C|PTPRB_ENST00000451516.2_Silent_p.C1273C|PTPRB_ENST00000550358.1_Silent_p.C1493C|PTPRB_ENST00000550857.1_Silent_p.C1273C	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1363					angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			TCTGAGGCCGGCAATGCAGGT	0.458													8	25					0	0	1	0	0	A	70949900	G	A	70949900	2	1	360	1	0	0	0	0	0	0	0	1	12848	1195	42	2		2	PTPRB	12	70949900	Silent	SNP	G	TCGA-P5-A5F4-01A-11D-A289-08	16153907	70949900	62901995	30	31951											
OR11H12	440153	broad.mit.edu	37	14	19377724	19377724	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr14:19377724C>T	ENST00000550708.1	+	1	203	c.131C>T	c.(130-132)tCa>tTa	p.S44L		NM_001013354.1|NM_001197287.1	NP_001013372.1|NP_001184216.1	B2RN74	O11HC_HUMAN	olfactory receptor, family 11, subfamily H, member 12	44					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TTCCTCTTCTCACTCTTTACT	0.413													10	110					0	0	1	0	0	T	19377724	C	T	19377724	3	4	360	1	0	0	0	0	1	0	0	0	10975	838	29	2	133	2	OR11H12	14	19377724	Missense_Mutation	SNP	C	TCGA-P5-A5F4-01A-11D-A289-08		19377724	87971816	31	31952											
ARID4A	5926	broad.mit.edu	37	14	58831983	58831983	+	Missense_Mutation	SNP	G	G	C			TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr14:58831983G>C	ENST00000355431.3	+	20	3549	c.3176G>C	c.(3175-3177)aGt>aCt	p.S1059T	ARID4A_ENST00000348476.3_Missense_Mutation_p.S1059T|ARID4A_ENST00000431317.2_Missense_Mutation_p.S1059T|ARID4A_ENST00000395168.3_Missense_Mutation_p.S1059T	NM_002892.3	NP_002883.3	P29374	ARI4A_HUMAN	AT rich interactive domain 4A (RBP1-like)	1059					negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	transcriptional repressor complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						GGTACCTGTAGTATAATTGTA	0.378													23	47					0	0	1	0	0	C	58831983	G	C	58831983	3	2	360	1	0	0	0	0	1	0	0	0	916	1029	36	4	3250	4	ARID4A	14	58831983	Missense_Mutation	SNP	G	TCGA-P5-A5F4-01A-11D-A289-08	39454259	58831983	48517557	32	31953											
DYNC1H1	1778	broad.mit.edu	37	14	102461153	102461154	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr14:102461153_102461154delAG	ENST00000360184.4	+	13	3464_3465	c.3300_3301delAG	c.(3298-3303)aaagagfs	p.E1101fs		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	1101	Stem (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						AAACCAAGAAAGAGTTTGGACC	0.436													8	51	---	---	---	---						-	102461154	AG	-	102461153	7	5	360	1	0	1	0	1	0	0	0	0	4867	69	3	0	3350	0	DYNC1H1	14	102461153	Frame_Shift_Del	DEL	AG	TCGA-P5-A5F4-01A-11D-A289-08	43629170	102461153	4888387	33	31954											
FLYWCH1	84256	broad.mit.edu	37	16	2983273	2983273	+	Silent	SNP	G	G	A			TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr16:2983273G>A	ENST00000399667.2	+	5	1302	c.939G>A	c.(937-939)cgG>cgA	p.R313R	FLYWCH1_ENST00000253928.9_Silent_p.R313R|FLYWCH1_ENST00000416288.2_Silent_p.R312R			Q4VC44	FWCH1_HUMAN	FLYWCH-type zinc finger 1	313						nucleus	DNA binding|metal ion binding			kidney(1)|lung(3)	4						ACGGCTGCCGGAGCCGGGCCA	0.667													6	21					0	0	1	0	0	A	2983273	G	A	2983273	2	1	360	1	0	0	0	0	0	0	0	1	5980	1161	41	2		2	FLYWCH1	16	2983273	Silent	SNP	G	TCGA-P5-A5F4-01A-11D-A289-08		2983273	87371480	34	31955											
TP53	7157	broad.mit.edu	37	17	7577120	7577120	+	Missense_Mutation	SNP	C	C	A	rs28934576	by1000genomes	TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr17:7577120C>A	ENST00000420246.2	-	8	950	c.818G>T	c.(817-819)cGt>cTt	p.R273L	TP53_ENST00000455263.2_Missense_Mutation_p.R273L|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.R273L|TP53_ENST00000445888.2_Missense_Mutation_p.R273L|TP53_ENST00000269305.4_Missense_Mutation_p.R273L	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	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).		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.R273H(521)|p.R273L(93)|p.R273P(32)|p.0?(8)|p.?(2)|p.R273fs*32(2)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273S(1)|p.E258fs*71(1)|p.R273fs*72(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.R273fs*33(1)|p.E271_R273delEVR(1)|p.V272_K292del21(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	0.542	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)			28	3					8.24728e-16	8.98365e-16	1	1	0	A	7577120	C	A	7577120	3	1	360	1	0	0	0	0	1	0	0	0	16442	536	19	5	468	5	TP53	17	7577120	Missense_Mutation	SNP	C	TCGA-P5-A5F4-01A-11D-A289-08		7577120	73618090	35	31956											
UBB	7314	broad.mit.edu	37	17	16285560	16285560	+	Silent	SNP	T	T	C			TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr17:16285560T>C	ENST00000302182.3	+	2	731	c.339T>C	c.(337-339)ccT>ccC	p.P113P	RP11-138I1.4_ENST00000583934.1_RNA|UBB_ENST00000578649.1_Intron|UBB_ENST00000395839.1_Silent_p.P113P|UBB_ENST00000535788.1_Intron|UBB_ENST00000395837.1_Silent_p.P113P	NM_001281720.1|NM_018955.3	NP_001268649.1|NP_061828.1	P0CG47	UBB_HUMAN	ubiquitin B	113	Ubiquitin-like 2.				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)		AAGGCATCCCTCCCGACCAGC	0.557													4	114					0	0	1	0	0	C	16285560	T	C	16285560	2	2	360	1	0	0	0	0	0	0	0	1	16902	1538	54	3		3	UBB	17	16285560	Silent	SNP	T	TCGA-P5-A5F4-01A-11D-A289-08	8708440	16285560	64909650	36	31957											
KRT15	3866	broad.mit.edu	37	17	39673186	39673186	+	Silent	SNP	G	G	A			TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr17:39673186G>A	ENST00000254043.3	-	3	4197	c.612C>T	c.(610-612)ggC>ggT	p.G204G	KRT15_ENST00000393981.3_Silent_p.G39G|KRT15_ENST00000393974.3_Silent_p.G39G|KRT15_ENST00000393976.2_Silent_p.G204G	NM_002275.3	NP_002266	P19012	K1C15_HUMAN	keratin 15	204	Coil 1B.|Rod.				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16		Breast(137;0.000286)				CAGCCTCAACGCCCTGGCGCA	0.612													20	109					0	0	1	0	0	A	39673186	G	A	39673186	2	1	360	1	0	0	0	0	0	0	0	1	8495	1074	38	1		1	KRT15	17	39673186	Silent	SNP	G	TCGA-P5-A5F4-01A-11D-A289-08	23387626	39673186	41522024	37	31958											
TMC8	147138	broad.mit.edu	37	17	76134132	76134132	+	Missense_Mutation	SNP	C	C	T	rs149327841	by1000genomes	TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr17:76134132C>T	ENST00000318430.5	+	12	1770	c.1396C>T	c.(1396-1398)Cgg>Tgg	p.R466W	TMC8_ENST00000589691.1_Missense_Mutation_p.R243W	NM_152468.4	NP_689681.2	Q8IU68	TMC8_HUMAN	transmembrane channel-like 8	466						endoplasmic reticulum membrane|integral to membrane				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)|OV - Ovarian serous cystadenocarcinoma(97;0.192)			CTGGCTGGAACGGGAGGAGTT	0.647													16	117					0	0	1	0	0	T	76134132	C	T	76134132	3	4	360	1	0	0	0	0	1	0	0	0	16051	527	19	1	1438	1	TMC8	17	76134132	Missense_Mutation	SNP	C	TCGA-P5-A5F4-01A-11D-A289-08	36460946	76134132	5061078	38	31959											
MIER2	54531	broad.mit.edu	37	19	308922	308922	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr19:308922G>A	ENST00000264819.4	-	11	998	c.988C>T	c.(988-990)Cgc>Tgc	p.R330C		NM_017550.1	NP_060020.1	Q8N344	MIER2_HUMAN	mesoderm induction early response 1, family member 2	330	SANT.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(10;1.05e-30)|all_epithelial(18;3.04e-19)|Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;2.49e-05)|all_lung(49;4.36e-05)|Breast(49;0.000304)		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)		GACCGTGTGCGCACCTGCGGG	0.667													4	98					0	0	1	0	0	A	308922	G	A	308922	3	1	360	1	0	0	0	0	1	0	0	0	9629	1087	38	1	665	1	MIER2	19	308922	Missense_Mutation	SNP	G	TCGA-P5-A5F4-01A-11D-A289-08		308922	58820061	39	31960											
RNF126	55658	broad.mit.edu	37	19	651708	651708	+	Missense_Mutation	SNP	G	G	C			TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr19:651708G>C	ENST00000292363.5	-	4	501	c.346C>G	c.(346-348)Cat>Gat	p.H116D		NM_194460.2	NP_919442.1	Q9BV68	RN126_HUMAN	ring finger protein 126	116							protein binding|zinc ion binding			lung(1)	1		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)		CGGGACGGATGGTCTCTCTCC	0.721													14	22					0	0	1	0	0	C	651708	G	C	651708	3	2	360	1	0	0	0	0	1	0	0	0	13487	1348	47	5	613	5	RNF126	19	651708	Missense_Mutation	SNP	G	TCGA-P5-A5F4-01A-11D-A289-08	342786	651708	58477275	40	31961											
ZNF430	80264	broad.mit.edu	37	19	21216300	21216300	+	Silent	SNP	T	T	C			TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr19:21216300T>C	ENST00000261560.5	+	3	316	c.135T>C	c.(133-135)tcT>tcC	p.S45S	ZNF430_ENST00000599548.1_Silent_p.S45S|ZNF430_ENST00000595401.1_Silent_p.S45S	NM_001172671.1|NM_025189.3	NP_001166142.1|NP_079465.3	Q9H8G1	ZN430_HUMAN	zinc finger protein 430	45	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23						TAGAATTTTCTCTGGAGGAGT	0.438													21	105					0	0	1	0	0	C	21216300	T	C	21216300	2	2	360	1	0	0	0	0	0	0	0	1	17961	1538	54	3		3	ZNF430	19	21216300	Silent	SNP	T	TCGA-P5-A5F4-01A-11D-A289-08	20564592	21216300	37912683	41	31962											
PLCB4	5332	broad.mit.edu	37	20	9389339	9389339	+	Missense_Mutation	SNP	A	A	G			TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr20:9389339A>G	ENST00000378501.2	+	19	1828	c.1813A>G	c.(1813-1815)Aag>Gag	p.K605E	PLCB4_ENST00000414679.2_Missense_Mutation_p.K617E|PLCB4_ENST00000278655.4_Missense_Mutation_p.K605E|PLCB4_ENST00000378473.3_Missense_Mutation_p.K617E|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000378493.1_Missense_Mutation_p.K605E|PLCB4_ENST00000334005.3_Missense_Mutation_p.K605E	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN	phospholipase C, beta 4	605	PI-PLC Y-box.				intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						TGGCTACTTGAAGACACATGC	0.373													6	11					0	0	1	0	0	G	9389339	A	G	9389339	3	3	360	1	0	0	0	0	1	0	0	0	12078	247	9	3	1927	3	PLCB4	20	9389339	Missense_Mutation	SNP	A	TCGA-P5-A5F4-01A-11D-A289-08		9389339	53636181	42	31963											
PAX1	5075	broad.mit.edu	37	20	21689966	21689967	+	Frame_Shift_Ins	INS	-	-	G			TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr20:21689966_21689967insG	ENST00000398485.2	+	4	1220_1221	c.1166_1167insG	c.(1165-1170)ccgggcfs	p.PG389fs	PAX1_ENST00000444366.2_Frame_Shift_Ins_p.PG365fs|PAX1_ENST00000460221.1_3'UTR	NM_001257096.1|NM_006192.4	NP_001244025.1|NP_006183.2	P15863	PAX1_HUMAN	paired box 1	389					regulation of transcription, DNA-dependent|skeletal system development|transcription from RNA polymerase II promoter	nucleus	DNA binding			autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(21)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	38						TACCTCGCCCCGGGCCCGCCGT	0.748													12	80	---	---	---	---						G	21689967	-	G	21689966	7	5	360	1	0	1	1	0	0	0	0	0	11525	652	23	0	1180	0	PAX1	20	21689966	Frame_Shift_Ins	INS	-	TCGA-P5-A5F4-01A-11D-A289-08	12300627	21689966	41335554	43	31964											
IFT52	51098	broad.mit.edu	37	20	42264576	42264576	+	Missense_Mutation	SNP	C	C	G			TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr20:42264576C>G	ENST00000373030.3	+	11	1064	c.934C>G	c.(934-936)Cag>Gag	p.Q312E	IFT52_ENST00000373039.4_Missense_Mutation_p.Q312E	NM_016004.2	NP_057088.2	Q9Y366	IFT52_HUMAN	intraflagellar transport 52 homolog (Chlamydomonas)	312						intraflagellar transport particle B|microtubule-based flagellum	protein C-terminus binding			endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			GGCTCACGAGCAGCTAAATGT	0.488													9	53					0	0	1	0	0	G	42264576	C	G	42264576	3	3	360	1	0	0	0	0	1	0	0	0	7605	711	25	5	972	5	IFT52	20	42264576	Missense_Mutation	SNP	C	TCGA-P5-A5F4-01A-11D-A289-08	20574610	42264576	20760944	44	31965											
SLC12A5	57468	broad.mit.edu	37	20	44672351	44672351	+	Silent	SNP	C	C	T	rs10460627		TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr20:44672351C>T	ENST00000243964.3	+	10	1415	c.1317C>T	c.(1315-1317)atC>atT	p.I439I	SLC12A5_ENST00000454036.2_Silent_p.I462I	NM_020708.4	NP_065759.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	462					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity	p.I439I(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	TCCTGGCCATCGCCACCACCT	0.607													4	106					0	0	1	0	0	T	44672351	C	T	44672351	2	4	360	1	0	0	0	0	0	0	0	1	14441	874	31	1		1	SLC12A5	20	44672351	Silent	SNP	C	TCGA-P5-A5F4-01A-11D-A289-08	2407775	44672351	18353169	45	31966											
KRTAP10-7	386675	broad.mit.edu	37	21	46021254	46021254	+	Missense_Mutation	SNP	G	G	T			TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr21:46021254G>T	ENST00000380102.2	+	1	758	c.733G>T	c.(733-735)Gtg>Ttg	p.V245L	TSPEAR_ENST00000323084.4_Intron	NM_198689.2	NP_941962.1	P60409	KR107_HUMAN	keratin associated protein 10-7	245	30 X 5 AA repeats of C-C-X(3).					keratin filament				breast(1)|large_intestine(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8						CGTCTGCTGTGTGCCCACCTG	0.652													43	211					4.06502e-11	4.35028e-11	1	1	0	T	46021254	G	T	46021254	3	4	360	1	0	0	0	0	1	0	0	0	8557	1377	48	5	724	5	KRTAP10-7	21	46021254	Missense_Mutation	SNP	G	TCGA-P5-A5F4-01A-11D-A289-08		46021254	2108641	46	31967											
LARGE	9215	broad.mit.edu	37	22	33670458	33670458	+	Silent	SNP	G	G	A			TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr22:33670458G>A	ENST00000354992.2	-	16	2797	c.2226C>T	c.(2224-2226)taC>taT	p.Y742Y	LARGE_ENST00000452586.2_Silent_p.Y541Y|LARGE_ENST00000337431.2_Silent_p.Y690Y|LARGE_ENST00000402320.1_Silent_p.Y690Y|LARGE_ENST00000397394.2_Silent_p.Y742Y|LARGE_ENST00000437602.2_Silent_p.Y693Y	NM_004737.4	NP_004728.1	O95461	LARGE_HUMAN	like-glycosyltransferase	742					glycosphingolipid biosynthetic process|muscle cell homeostasis|N-acetylglucosamine metabolic process|protein glycosylation	integral to Golgi membrane	acetylglucosaminyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(1;0.219)				CAGCAAAGCCGTAGCGGCGGG	0.542											OREG0026497	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	109					0	0	1	0	0	A	33670458	G	A	33670458	2	1	360	1	0	0	0	0	0	0	0	1	8666	1140	40	1		1	LARGE	22	33670458	Silent	SNP	G	TCGA-P5-A5F4-01A-11D-A289-08		33670458	17634108	47	31968											
PRR5	55615	broad.mit.edu	37	22	45132730	45132730	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr22:45132730C>T	ENST00000403581.1	+	10	1448	c.839C>T	c.(838-840)aCg>aTg	p.T280M	ARHGAP8_ENST00000517296.3_Intron|PRR5_ENST00000006251.7_Missense_Mutation_p.T248M|PRR5-ARHGAP8_ENST00000361473.5_Intron|PRR5_ENST00000477331.1_3'UTR|ARHGAP8_ENST00000389773.5_Intron|PRR5-ARHGAP8_ENST00000352766.7_Intron|PRR5_ENST00000336985.6_Missense_Mutation_p.T257M	NM_001198721.1	NP_001185650.1			proline rich 5 (renal)											central_nervous_system(1)|endometrium(2)|lung(6)|prostate(1)|skin(1)	11		all_neural(38;0.00409)|Ovarian(80;0.024)|Glioma(61;0.0647)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)		AGCTACAACACGCCTCTGCTG	0.692													28	112					0	0	1	0	0	T	45132730	C	T	45132730	3	4	360	1	0	0	0	0	1	0	0	0	12650	536	19	1	800	1	PRR5	22	45132730	Missense_Mutation	SNP	C	TCGA-P5-A5F4-01A-11D-A289-08	11462272	45132730	6171836	48	31969											
DHRSX	207063	broad.mit.edu	37	X	2161263	2161263	+	Missense_Mutation	SNP	T	T	C			TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chrX:2161263T>C	ENST00000334651.5	-	6	657	c.605A>G	c.(604-606)tAc>tGc	p.Y202C		NM_145177.2	NP_660160.2	Q8N5I4	DHRSX_HUMAN	dehydrogenase/reductase (SDR family) X-linked	202							binding|oxidoreductase activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)	16		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				GTGGGGTGAGTAGCAGGCACT	0.642													8	28					0	0	1	0	0	C	2161263	T	C	2161263	3	2	360	1	0	0	0	0	1	0	0	0	4527	1638	57	3	395	3	DHRSX	23	2161263	Missense_Mutation	SNP	T	TCGA-P5-A5F4-01A-11D-A289-08		2161263	153109297	49	31970											
CYLC1	1538	broad.mit.edu	37	X	83116196	83116196	+	Silent	SNP	T	T	C			TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chrX:83116196T>C	ENST00000329312.4	+	1	43	c.6T>C	c.(4-6)tcT>tcC	p.S2S		NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head cytoskeleton 1	2					cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						GGGAAATGTCTCTTCCAAGGT	0.313													10	35					0	0	1	0	0	C	83116196	T	C	83116196	2	2	360	1	0	0	0	0	0	0	0	1	4164	1538	54	3		3	CYLC1	23	83116196	Silent	SNP	T	TCGA-P5-A5F4-01A-11D-A289-08	80954933	83116196	72154364	50	31971											
BTK	695	broad.mit.edu	37	X	100615678	100615678	+	Silent	SNP	C	C	T			TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chrX:100615678C>T	ENST00000308731.7	-	8	817	c.654G>A	c.(652-654)aaG>aaA	p.K218K	BTK_ENST00000372880.1_Silent_p.K218K	NM_000061.2	NP_000052.1	Q06187	BTK_HUMAN	Bruton agammaglobulinemia tyrosine kinase	218	SH3.				calcium-mediated signaling|induction of apoptosis by extracellular signals|mesoderm development	cytosol|membrane raft|nucleus|plasma membrane	ATP binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol-3,4,5-trisphosphate binding			breast(4)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(25)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						GGGCCACAACCTTTTTCAGCT	0.448									Agammaglobulinemia, X-linked				17	102					0	0	1	0	0	T	100615678	C	T	100615678	2	4	360	1	0	0	0	0	0	0	0	1	1560	680	24	2		2	BTK	23	100615678	Silent	SNP	C	TCGA-P5-A5F4-01A-11D-A289-08	17499482	100615678	54654882	51	31972											
MUM1L1	139221	broad.mit.edu	37	X	105449981	105449981	+	Missense_Mutation	SNP	T	T	C			TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chrX:105449981T>C	ENST00000337685.2	+	5	1341	c.556T>C	c.(556-558)Tca>Cca	p.S186P	MUM1L1_ENST00000372552.1_Missense_Mutation_p.S186P|MUM1L1_ENST00000357175.2_Missense_Mutation_p.S186P	NM_152423.4	NP_689636.3	Q5H9M0	MUML1_HUMAN	melanoma associated antigen (mutated) 1-like 1	186										autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						GGAAACAAAGTCATTACAAAA	0.383													11	13					0	0	1	0	0	C	105449981	T	C	105449981	3	2	360	1	0	0	0	0	1	0	0	0	10034	1667	58	3	558	3	MUM1L1	23	105449981	Missense_Mutation	SNP	T	TCGA-P5-A5F4-01A-11D-A289-08	4834303	105449981	49820579	52	31973											
CATSPER4	378807	broad.mit.edu	37	1	26524778	26524778	+	Splice_Site	DEL	T	T	-			TCGA-P5-A5F6-01A-11D-A289-08	TCGA-P5-A5F6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc801897-1db7-480c-8e5f-7da4002fb31f	4bdadad4-7eca-457d-bd33-1183d7950589	g.chr1:26524778delT	ENST00000456354.2	+	6	747	c.680delT	c.(679-681)gtt>gt	p.V227fs		NM_198137.1	NP_937770.1	Q7RTX7	CTSR4_HUMAN	cation channel, sperm associated 4	227					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|voltage-gated ion channel activity			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)	27		all_cancers(24;2.05e-18)|Colorectal(325;0.000147)|Renal(390;0.00211)|all_lung(284;0.00218)|Lung NSC(340;0.00239)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-26)|Colorectal(126;1.34e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|BRCA - Breast invasive adenocarcinoma(304;0.000995)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00878)|READ - Rectum adenocarcinoma(331;0.0649)		CTCTGACAGGTTTTTTCCGTG	0.488													7	921	---	---	---	---						-	26524778	T	-	26524778	8	5	361	1	0	1	0	1	0	0	1	0	2708	1739	60	0	702	0	CATSPER4	1	26524778	Splice_Site	DEL	T	TCGA-P5-A5F6-01A-11D-A289-08		26524778	222725843	1	31974											
HTRA2	27429	broad.mit.edu	37	2	74757185	74757186	+	Frame_Shift_Ins	INS	-	-	G			TCGA-P5-A5F6-01A-11D-A289-08	TCGA-P5-A5F6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc801897-1db7-480c-8e5f-7da4002fb31f	4bdadad4-7eca-457d-bd33-1183d7950589	g.chr2:74757185_74757186insG	ENST00000258080.3	+	1	682_683	c.52_53insG	c.(52-54)cggfs	p.R18fs	HTRA2_ENST00000467961.1_Intron|HTRA2_ENST00000352222.3_Frame_Shift_Ins_p.R18fs	NM_013247.4	NP_037379.1	O43464	HTRA2_HUMAN	HtrA serine peptidase 2	18					apoptosis|proteolysis|response to stress	CD40 receptor complex|endoplasmic reticulum membrane|internal side of plasma membrane|mitochondrial intermembrane space|mitochondrial membrane|nucleus	serine-type endopeptidase activity|unfolded protein binding			endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	12						TCGGGCATGGCGGGCTTTGGGG	0.718													8	96	---	---	---	---						G	74757186	-	G	74757185	7	5	361	1	0	1	1	0	0	0	0	0	7498	759	27	0	54	0	HTRA2	2	74757185	Frame_Shift_Ins	INS	-	TCGA-P5-A5F6-01A-11D-A289-08		74757185	168442188	2	31975											
PCLO	27445	broad.mit.edu	37	7	82543925	82543925	+	Silent	SNP	G	G	C			TCGA-P5-A5F6-01A-11D-A289-08	TCGA-P5-A5F6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc801897-1db7-480c-8e5f-7da4002fb31f	4bdadad4-7eca-457d-bd33-1183d7950589	g.chr7:82543925G>C	ENST00000437081.1	-	2	3537	c.3537C>G	c.(3535-3537)ctC>ctG	p.L1179L	PCLO_ENST00000423517.2_Intron|PCLO_ENST00000333891.9_Intron			Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	0					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TACATCTCTGGAGAAGGGAAA	0.343													3	0					0	0	1	0	0	C	82543925	G	C	82543925	2	2	361	1	0	0	0	0	0	0	0	1	11630	1189	41	5		5	PCLO	7	82543925	Silent	SNP	G	TCGA-P5-A5F6-01A-11D-A289-08		82543925	76594738	3	31976											
KRIT1	889	broad.mit.edu	37	7	91865759	91865759	+	Silent	SNP	T	T	C			TCGA-P5-A5F6-01A-11D-A289-08	TCGA-P5-A5F6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc801897-1db7-480c-8e5f-7da4002fb31f	4bdadad4-7eca-457d-bd33-1183d7950589	g.chr7:91865759T>C	ENST00000394507.1	-	8	1236	c.453A>G	c.(451-453)acA>acG	p.T151T	KRIT1_ENST00000394505.2_Silent_p.T151T|KRIT1_ENST00000340022.2_Silent_p.T151T|KRIT1_ENST00000412043.2_Silent_p.T151T|KRIT1_ENST00000394503.2_Silent_p.T151T	NM_194456.1	NP_919438.1	O00522	KRIT1_HUMAN	KRIT1, ankyrin repeat containing	151					angiogenesis|cell redox homeostasis|negative regulation of angiogenesis|negative regulation of endothelial cell apoptosis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|regulation of establishment of cell polarity|small GTPase mediated signal transduction	cell-cell junction|cytoskeleton	protein binding|small GTPase regulator activity			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(2)|stomach(1)	22	all_cancers(62;1.04e-09)|all_epithelial(64;5.75e-09)|Breast(17;0.00206)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TTGCTGTAAGTGTAGCAAAAT	0.323													6	23					0	0	1	0	0	C	91865759	T	C	91865759	2	2	361	1	0	0	0	0	0	0	0	1	8488	1683	59	3		3	KRIT1	7	91865759	Silent	SNP	T	TCGA-P5-A5F6-01A-11D-A289-08	9321834	91865759	67272904	4	31977											
ACSS1	84532	broad.mit.edu	37	20	24988567	24988567	+	Missense_Mutation	SNP	C	C	T	rs150793632		TCGA-P5-A5F6-01A-11D-A289-08	TCGA-P5-A5F6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc801897-1db7-480c-8e5f-7da4002fb31f	4bdadad4-7eca-457d-bd33-1183d7950589	g.chr20:24988567C>T	ENST00000537502.1	-	12	3183	c.1652G>A	c.(1651-1653)cGt>cAt	p.R551H	ACSS1_ENST00000323482.4_Missense_Mutation_p.R634H|ACSS1_ENST00000432802.2_Intron|ACSS1_ENST00000484396.1_5'UTR|ACSS1_ENST00000542618.1_Missense_Mutation_p.R513H			Q9NUB1	ACS2L_HUMAN	acyl-CoA synthetase short-chain family member 1	634					acetyl-CoA biosynthetic process|ethanol oxidation|xenobiotic metabolic process	mitochondrial matrix	acetate-CoA ligase activity|AMP binding|ATP binding|protein binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	26					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	TTTTGGAAGACGTTTCACCAC	0.567													6	63					0	0	1	0	0	T	24988567	C	T	24988567	3	4	361	1	0	0	0	0	1	0	0	0	188	536	19	1	172	1	ACSS1	20	24988567	Missense_Mutation	SNP	C	TCGA-P5-A5F6-01A-11D-A289-08		24988567	38036953	5	31978											
AMOT	154796	broad.mit.edu	37	X	112058796	112058796	+	Silent	SNP	C	C	T			TCGA-P5-A5F6-01A-11D-A289-08	TCGA-P5-A5F6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc801897-1db7-480c-8e5f-7da4002fb31f	4bdadad4-7eca-457d-bd33-1183d7950589	g.chrX:112058796C>T	ENST00000371959.3	-	2	1181	c.1182G>A	c.(1180-1182)caG>caA	p.Q394Q	AMOT_ENST00000304758.1_5'UTR|AMOT_ENST00000371962.1_Silent_p.Q162Q|AMOT_ENST00000371958.1_Silent_p.Q162Q|AMOT_ENST00000524145.1_Silent_p.Q394Q	NM_001113490.1	NP_001106962.1	Q4VCS5	AMOT_HUMAN	angiomotin	394					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	p.Q394Q(1)		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						gctgctgctgctgttgttggt	0.582													4	47					0	0	1	0	0	T	112058796	C	T	112058796	2	4	361	1	0	0	0	0	0	0	0	1	578	796	28	2		2	AMOT	23	112058796	Silent	SNP	C	TCGA-P5-A5F6-01A-11D-A289-08		112058796	43211764	6	31979											
GABRD	2563	broad.mit.edu	37	1	1959653	1959653	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A72U-01A-31D-A32B-08	TCGA-P5-A72U-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e273ac4f-af5a-4671-813b-ce86f784fcbe	393cccc0-b27d-4b08-889c-1d74b31f3ce7	g.chr1:1959653G>A	ENST00000378585.4	+	6	696	c.613G>A	c.(613-615)Ggg>Agg	p.G205R		NM_000815.4	NP_000806.2	O14764	GBRD_HUMAN	gamma-aminobutyric acid (GABA) A receptor, delta	205						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			central_nervous_system(2)|endometrium(3)|kidney(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;2.7e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.17e-24)|GBM - Glioblastoma multiforme(42;9.56e-08)|Colorectal(212;4.12e-05)|COAD - Colon adenocarcinoma(227;0.000194)|Kidney(185;0.00231)|BRCA - Breast invasive adenocarcinoma(365;0.00441)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)		GCACATCCACGGGCTGGACAA	0.607													9	19					0	0	1	0	0	A	1959653	G	A	1959653	3	1	362	1	0	0	0	0	1	0	0	0	6204	1116	39	1	635	1	GABRD	1	1959653	Missense_Mutation	SNP	G	TCGA-P5-A72U-01A-31D-A32B-08		1959653	247290968	1	31980											
KLHDC8A	55220	broad.mit.edu	37	1	205308370	205308370	+	Missense_Mutation	SNP	G	G	A	rs140745821		TCGA-P5-A72U-01A-31D-A32B-08	TCGA-P5-A72U-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e273ac4f-af5a-4671-813b-ce86f784fcbe	393cccc0-b27d-4b08-889c-1d74b31f3ce7	g.chr1:205308370G>A	ENST00000367156.3	-	7	1525	c.709C>T	c.(709-711)Cgg>Tgg	p.R237W	KLHDC8A_ENST00000367155.3_Missense_Mutation_p.R237W|KLHDC8A_ENST00000539253.1_Missense_Mutation_p.R237W|KLHDC8A_ENST00000537168.1_Missense_Mutation_p.R124W|KLHDC8A_ENST00000460687.1_Missense_Mutation_p.R103W	NM_001271863.1	NP_001258792.1	Q8IYD2	KLD8A_HUMAN	kelch domain containing 8A	237										breast(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Breast(84;0.23)		BRCA - Breast invasive adenocarcinoma(75;0.117)			TTGGGCTGCCGGTAGAGGCGA	0.597													11	27					0	0	1	0	0	A	205308370	G	A	205308370	3	1	362	1	0	0	0	0	1	0	0	0	8405	1115	39	1	355	1	KLHDC8A	1	205308370	Missense_Mutation	SNP	G	TCGA-P5-A72U-01A-31D-A32B-08	203348717	205308370	43942251	2	31981											
PROKR1	10887	broad.mit.edu	37	2	68882314	68882314	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A72U-01A-31D-A32B-08	TCGA-P5-A72U-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e273ac4f-af5a-4671-813b-ce86f784fcbe	393cccc0-b27d-4b08-889c-1d74b31f3ce7	g.chr2:68882314C>T	ENST00000303786.3	+	3	1208	c.788C>T	c.(787-789)gCg>gTg	p.A263V	PROKR1_ENST00000394342.2_Missense_Mutation_p.A263V			Q8TCW9	PKR1_HUMAN	prokineticin receptor 1	263						integral to membrane|plasma membrane	neuropeptide Y receptor activity			endometrium(3)|kidney(2)|large_intestine(14)|lung(9)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						TGGTTCAAGGCGGTCCCTGGA	0.582													10	38					0	0	1	0	0	T	68882314	C	T	68882314	3	4	362	1	0	0	0	0	1	0	0	0	12604	768	27	1	794	1	PROKR1	2	68882314	Missense_Mutation	SNP	C	TCGA-P5-A72U-01A-31D-A32B-08		68882314	174317059	3	31982											
RANBP2	5903	broad.mit.edu	37	2	109384118	109384118	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A72U-01A-31D-A32B-08	TCGA-P5-A72U-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e273ac4f-af5a-4671-813b-ce86f784fcbe	393cccc0-b27d-4b08-889c-1d74b31f3ce7	g.chr2:109384118G>A	ENST00000283195.6	+	20	7249	c.7123G>A	c.(7123-7125)Gac>Aac	p.D2375N		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	2375	RanBD1 3.				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						GATGAGAAGGGACCAAGTATT	0.353													55	211					0	0	1	0	0	A	109384118	G	A	109384118	3	1	362	1	0	0	0	0	1	0	0	0	13080	1174	41	2	7201	2	RANBP2	2	109384118	Missense_Mutation	SNP	G	TCGA-P5-A72U-01A-31D-A32B-08	40501804	109384118	133815255	4	31983											
LRP2	4036	broad.mit.edu	37	2	170038125	170038125	+	Nonsense_Mutation	SNP	G	G	T			TCGA-P5-A72U-01A-31D-A32B-08	TCGA-P5-A72U-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e273ac4f-af5a-4671-813b-ce86f784fcbe	393cccc0-b27d-4b08-889c-1d74b31f3ce7	g.chr2:170038125G>T	ENST00000263816.3	-	52	10287	c.10002C>A	c.(10000-10002)taC>taA	p.Y3334*	LRP2_ENST00000461418.1_5'UTR	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	3334					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	CCCAGTAGAGGTACCTGTCAG	0.483													10	33					2.74318e-10	2.9168e-10	1	1	0	T	170038125	G	T	170038125	4	4	362	1	0	0	0	0	0	1	0	0	9001	1256	44	5	4077	5	LRP2	2	170038125	Nonsense_Mutation	SNP	G	TCGA-P5-A72U-01A-31D-A32B-08	60654007	170038125	73161248	5	31984											
ATF2	1386	broad.mit.edu	37	2	175979598	175979598	+	Splice_Site	SNP	T	T	A			TCGA-P5-A72U-01A-31D-A32B-08	TCGA-P5-A72U-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e273ac4f-af5a-4671-813b-ce86f784fcbe	393cccc0-b27d-4b08-889c-1d74b31f3ce7	g.chr2:175979598T>A	ENST00000264110.2	-	8	746		c.e8-2		ATF2_ENST00000426833.3_Splice_Site|ATF2_ENST00000538946.1_Splice_Site|ATF2_ENST00000409499.1_Intron|ATF2_ENST00000487334.2_Splice_Site|ATF2_ENST00000345739.5_Splice_Site|ATF2_ENST00000392544.1_Splice_Site|ATF2_ENST00000409635.1_Splice_Site|ATF2_ENST00000409833.1_Splice_Site|ATF2_ENST00000392543.2_Intron|ATF2_ENST00000409437.1_Intron	NM_001256090.1|NM_001256091.1|NM_001880.3	NP_001243019.1|NP_001243020.1|NP_001871.2	P15336	ATF2_HUMAN	activating transcription factor 2						innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	nucleoplasm	protein dimerization activity|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|pancreas(1)|skin(1)	17			OV - Ovarian serous cystadenocarcinoma(117;0.125)			TGGTACTTCCTATTTAACAAT	0.373													21	69					0	0	1	0	0	A	175979598	T	A	175979598	5	1	362	1	0	0	0	0	0	0	1	0	1079	1536	53	5	1099	5	ATF2	2	175979598	Splice_Site	SNP	T	TCGA-P5-A72U-01A-31D-A32B-08	5941473	175979598	67219775	6	31985											
SP140	11262	broad.mit.edu	37	2	231150512	231150512	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A72U-01A-31D-A32B-08	TCGA-P5-A72U-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e273ac4f-af5a-4671-813b-ce86f784fcbe	393cccc0-b27d-4b08-889c-1d74b31f3ce7	g.chr2:231150512C>T	ENST00000392045.3	+	17	1724	c.1610C>T	c.(1609-1611)gCg>gTg	p.A537V	SP140_ENST00000343805.6_Missense_Mutation_p.A477V|SP140_ENST00000350136.5_Missense_Mutation_p.A406V|SP140_ENST00000420434.3_Missense_Mutation_p.A510V|SP140_ENST00000486687.2_Missense_Mutation_p.A461V|SP140_ENST00000417495.3_Missense_Mutation_p.A423V	NM_007237.4	NP_009168.4	Q13342	LY10_HUMAN	SP140 nuclear body protein	537					defense response	cytoplasm|nuclear envelope|nucleolus|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		GAAAAGAAGGCGAACGTGAAT	0.448													17	115					0	0	1	0	0	T	231150512	C	T	231150512	3	4	362	1	0	0	0	0	1	0	0	0	15016	768	27	1	1793	1	SP140	2	231150512	Missense_Mutation	SNP	C	TCGA-P5-A72U-01A-31D-A32B-08	55170914	231150512	12048861	7	31986											
THRB	7068	broad.mit.edu	37	3	24193966	24193966	+	Missense_Mutation	SNP	T	T	C			TCGA-P5-A72U-01A-31D-A32B-08	TCGA-P5-A72U-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e273ac4f-af5a-4671-813b-ce86f784fcbe	393cccc0-b27d-4b08-889c-1d74b31f3ce7	g.chr3:24193966T>C	ENST00000396671.2	-	6	647	c.299A>G	c.(298-300)tAc>tGc	p.Y100C	THRB_ENST00000416420.1_Missense_Mutation_p.Y100C|THRB_ENST00000356447.4_Missense_Mutation_p.Y100C|THRB_ENST00000280696.5_Missense_Mutation_p.Y115C	NM_001128176.2	NP_001121648.1	P10828	THB_HUMAN	thyroid hormone receptor, beta	100	Modulating.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	enzyme binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription corepressor activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(6)|pancreas(2)|prostate(1)|skin(3)	19					Levothyroxine(DB00451)|Liothyronine(DB00279)	CTTGTCTAAGTAACTGGGGAT	0.443													9	23					0	0	1	0	0	C	24193966	T	C	24193966	3	2	362	1	0	0	0	0	1	0	0	0	15935	1638	57	3	1110	3	THRB	3	24193966	Missense_Mutation	SNP	T	TCGA-P5-A72U-01A-31D-A32B-08		24193966	173828464	8	31987											
PLCXD2	257068	broad.mit.edu	37	3	111394231	111394231	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A72U-01A-31D-A32B-08	TCGA-P5-A72U-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e273ac4f-af5a-4671-813b-ce86f784fcbe	393cccc0-b27d-4b08-889c-1d74b31f3ce7	g.chr3:111394231C>T	ENST00000393934.3	+	1	709	c.139C>T	c.(139-141)Ccc>Tcc	p.P47S	PLCXD2_ENST00000477665.1_Missense_Mutation_p.P47S	NM_153268.3	NP_695000.1	Q0VAA5	PLCX2_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 2	47	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity			endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)	17						CCACAACCTCCCCCTTTCCAA	0.537													18	75					0	0	1	0	0	T	111394231	C	T	111394231	3	4	362	1	0	0	0	0	1	0	0	0	12090	623	22	2	141	2	PLCXD2	3	111394231	Missense_Mutation	SNP	C	TCGA-P5-A72U-01A-31D-A32B-08	87200265	111394231	86628199	9	31988											
PIK3CA	5290	broad.mit.edu	37	3	178952085	178952085	+	Missense_Mutation	SNP	A	A	T	rs121913279		TCGA-P5-A72U-01A-31D-A32B-08	TCGA-P5-A72U-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e273ac4f-af5a-4671-813b-ce86f784fcbe	393cccc0-b27d-4b08-889c-1d74b31f3ce7	g.chr3:178952085A>T	ENST00000263967.3	+	21	3297	c.3140A>T	c.(3139-3141)cAt>cTt	p.H1047L		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1047	PI3K/PI4K.		H -> L (in cancer).|H -> R (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane).|H -> Y (in cancer).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.H1047R(1387)|p.H1047L(194)|p.H1047P(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			AATGATGCACATCATGGTGGC	0.378	H1047L(EFM19_BREAST)|H1047R(BT20_BREAST)|H1047R(CAL29_URINARY_TRACT)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(HCC1954_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(MCAS_OVARY)|H1047R(MDAMB453_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(RKO_LARGE_INTESTINE)|H1047R(SKOV3_OVARY)|H1047R(T47D_BREAST)	57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			4	53					0	0	1	0	0	T	178952085	A	T	178952085	3	4	362	1	0	0	0	0	1	0	0	0	11961	217	8	4	3218	4	PIK3CA	3	178952085	Missense_Mutation	SNP	A	TCGA-P5-A72U-01A-31D-A32B-08	67557854	178952085	19070345	10	31989											
SH3TC1	54436	broad.mit.edu	37	4	8229065	8229065	+	Silent	SNP	G	G	A			TCGA-P5-A72U-01A-31D-A32B-08	TCGA-P5-A72U-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e273ac4f-af5a-4671-813b-ce86f784fcbe	393cccc0-b27d-4b08-889c-1d74b31f3ce7	g.chr4:8229065G>A	ENST00000539824.1	+	12	1790	c.1416G>A	c.(1414-1416)ggG>ggA	p.G472G	SH3TC1_ENST00000245105.3_Silent_p.G548G|SH3TC1_ENST00000514274.1_3'UTR			Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	548							binding			NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						AGGCCCGGGGGGCGGCCAAGA	0.697													5	23					0	0	1	0	0	A	8229065	G	A	8229065	2	1	362	1	0	0	0	0	0	0	0	1	14316	1219	43	2		2	SH3TC1	4	8229065	Silent	SNP	G	TCGA-P5-A72U-01A-31D-A32B-08		8229065	182925211	11	31990											
DKK2	27123	broad.mit.edu	37	4	107845811	107845811	+	Silent	SNP	C	C	T			TCGA-P5-A72U-01A-31D-A32B-08	TCGA-P5-A72U-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e273ac4f-af5a-4671-813b-ce86f784fcbe	393cccc0-b27d-4b08-889c-1d74b31f3ce7	g.chr4:107845811C>T	ENST00000285311.3	-	3	1125	c.420G>A	c.(418-420)ccG>ccA	p.P140P	DKK2_ENST00000513208.1_Silent_p.P40P|DKK2_ENST00000510463.1_Silent_p.P94P	NM_014421.2	NP_055236.1	Q9UBU2	DKK2_HUMAN	dickkopf WNT signaling pathway inhibitor 2	140					multicellular organismal development|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	extracellular space				autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.34e-06)		CATCCAGAGCCGGGATGTGAG	0.438													18	101					0	0	1	0	0	T	107845811	C	T	107845811	2	4	362	1	0	0	0	0	0	0	0	1	4573	639	23	1		1	DKK2	4	107845811	Silent	SNP	C	TCGA-P5-A72U-01A-31D-A32B-08	99616746	107845811	83308465	12	31991											
NPY5R	4889	broad.mit.edu	37	4	164272199	164272199	+	Silent	SNP	T	T	A			TCGA-P5-A72U-01A-31D-A32B-08	TCGA-P5-A72U-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e273ac4f-af5a-4671-813b-ce86f784fcbe	393cccc0-b27d-4b08-889c-1d74b31f3ce7	g.chr4:164272199T>A	ENST00000515560.1	+	4	2296	c.774T>A	c.(772-774)acT>acA	p.T258T	NPY5R_ENST00000506953.1_Silent_p.T258T|NPY5R_ENST00000338566.3_Silent_p.T258T			Q15761	NPY5R_HUMAN	neuropeptide Y receptor Y5	258					cardiac left ventricle morphogenesis|outflow tract morphogenesis	integral to plasma membrane				NS(2)|biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(26)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_hematologic(180;0.166)	Prostate(90;0.109)				TCAACTTAACTCTTCATCCAT	0.373													8	71					0	0	1	0	0	A	164272199	T	A	164272199	2	1	362	1	0	0	0	0	0	0	0	1	10658	1538	54	5		5	NPY5R	4	164272199	Silent	SNP	T	TCGA-P5-A72U-01A-31D-A32B-08	56426388	164272199	26882077	13	31992											
ADCY2	108	broad.mit.edu	37	5	7520913	7520913	+	Silent	SNP	C	C	T			TCGA-P5-A72U-01A-31D-A32B-08	TCGA-P5-A72U-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e273ac4f-af5a-4671-813b-ce86f784fcbe	393cccc0-b27d-4b08-889c-1d74b31f3ce7	g.chr5:7520913C>T	ENST00000338316.4	+	3	560	c.471C>T	c.(469-471)gaC>gaT	p.D157D		NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	157					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding	p.D157D(1)		NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						ACATGCGAGACGCCATCATTG	0.547													5	62					0	0	1	0	0	T	7520913	C	T	7520913	2	4	362	1	0	0	0	0	0	0	0	1	293	535	19	1		1	ADCY2	5	7520913	Silent	SNP	C	TCGA-P5-A72U-01A-31D-A32B-08		7520913	173394347	14	31993											
CDH18	1016	broad.mit.edu	37	5	19747223	19747223	+	Missense_Mutation	SNP	G	G	T			TCGA-P5-A72U-01A-31D-A32B-08	TCGA-P5-A72U-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e273ac4f-af5a-4671-813b-ce86f784fcbe	393cccc0-b27d-4b08-889c-1d74b31f3ce7	g.chr5:19747223G>T	ENST00000507958.1	-	6	1341	c.351C>A	c.(349-351)gaC>gaA	p.D117E	CDH18_ENST00000506372.1_Missense_Mutation_p.D117E|CDH18_ENST00000382275.1_Missense_Mutation_p.D117E|CDH18_ENST00000274170.4_Missense_Mutation_p.D117E|CDH18_ENST00000502796.1_Missense_Mutation_p.D117E|CDH18_ENST00000511273.1_Missense_Mutation_p.D117E			Q13634	CAD18_HUMAN	cadherin 18, type 2	117	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.D117E(2)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					TCTGCTCTCTGTCTAGGCTTT	0.443													25	71					1.66031e-10	1.78802e-10	1	1	0	T	19747223	G	T	19747223	3	4	362	1	0	0	0	0	1	0	0	0	3125	1368	48	5	2061	5	CDH18	5	19747223	Missense_Mutation	SNP	G	TCGA-P5-A72U-01A-31D-A32B-08	12226310	19747223	161168037	15	31994											
TMEM171	134285	broad.mit.edu	37	5	72419284	72419284	+	Silent	SNP	C	C	T			TCGA-P5-A72U-01A-31D-A32B-08	TCGA-P5-A72U-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e273ac4f-af5a-4671-813b-ce86f784fcbe	393cccc0-b27d-4b08-889c-1d74b31f3ce7	g.chr5:72419284C>T	ENST00000454765.2	+	2	557	c.84C>T	c.(82-84)ttC>ttT	p.F28F	TMEM171_ENST00000287773.5_Silent_p.F28F			Q8WVE6	TM171_HUMAN	transmembrane protein 171	28						integral to membrane				endometrium(5)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|stomach(1)	15		Lung NSC(167;0.0378)|Ovarian(174;0.0908)|Prostate(461;0.165)		OV - Ovarian serous cystadenocarcinoma(47;1.87e-54)|Lung(70;0.115)		TCTTTGTCTTCGGCGCCGTCT	0.577													5	96					0	0	1	0	0	T	72419284	C	T	72419284	2	4	362	1	0	0	0	0	0	0	0	1	16148	883	31	1		1	TMEM171	5	72419284	Silent	SNP	C	TCGA-P5-A72U-01A-31D-A32B-08	52672061	72419284	108495976	16	31995											
F2R	2149	broad.mit.edu	37	5	76028196	76028196	+	Missense_Mutation	SNP	A	A	G			TCGA-P5-A72U-01A-31D-A32B-08	TCGA-P5-A72U-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e273ac4f-af5a-4671-813b-ce86f784fcbe	393cccc0-b27d-4b08-889c-1d74b31f3ce7	g.chr5:76028196A>G	ENST00000319211.4	+	2	411	c.146A>G	c.(145-147)aAt>aGt	p.N49S		NM_001992.3	NP_001983.2	P25116	PAR1_HUMAN	coagulation factor II (thrombin) receptor	49					activation of caspase activity|anatomical structure morphogenesis|connective tissue replacement involved in inflammatory response wound healing|negative regulation of cell proliferation|platelet activation|positive regulation of blood coagulation|positive regulation of cell migration|positive regulation of collagen biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JAK-STAT cascade|positive regulation of MAPKKK cascade|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of transcription, DNA-dependent|STAT protein import into nucleus|tyrosine phosphorylation of STAT protein	caveola|extracellular region|Golgi apparatus|integral to plasma membrane|platelet dense tubular network	receptor binding|thrombin receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|lung(7)|ovary(3)	16		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Prostate(461;0.00955)|Ovarian(174;0.0129)		all cancers(79;4.43e-43)	Streptokinase(DB00086)	AGGAACCCCAATGATAAATAT	0.328													15	65					0	0	1	0	0	G	76028196	A	G	76028196	3	3	362	1	0	0	0	0	1	0	0	0	5371	101	4	3	152	3	F2R	5	76028196	Missense_Mutation	SNP	A	TCGA-P5-A72U-01A-31D-A32B-08	3608912	76028196	104887064	17	31996											
PCDHGA3	56112	broad.mit.edu	37	5	140725053	140725053	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A72U-01A-31D-A32B-08	TCGA-P5-A72U-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e273ac4f-af5a-4671-813b-ce86f784fcbe	393cccc0-b27d-4b08-889c-1d74b31f3ce7	g.chr5:140725053G>A	ENST00000253812.6	+	1	1453	c.1453G>A	c.(1453-1455)Gcc>Acc	p.A485T	PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1														breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAACAACAACGCCCGCATCAC	0.552													26	84					0	0	1	0	0	A	140725053	G	A	140725053	3	1	362	1	0	0	0	0	1	0	0	0	11602	1087	38	1	1455	1	PCDHGA3	5	140725053	Missense_Mutation	SNP	G	TCGA-P5-A72U-01A-31D-A32B-08	64696857	140725053	40190207	18	31997											
ABLIM3	22885	broad.mit.edu	37	5	148632366	148632366	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A72U-01A-31D-A32B-08	TCGA-P5-A72U-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e273ac4f-af5a-4671-813b-ce86f784fcbe	393cccc0-b27d-4b08-889c-1d74b31f3ce7	g.chr5:148632366G>A	ENST00000506113.1	+	22	2386	c.1904G>A	c.(1903-1905)cGa>cAa	p.R635Q	ABLIM3_ENST00000517451.1_Missense_Mutation_p.R121Q|ABLIM3_ENST00000504238.1_Missense_Mutation_p.R524Q|ABLIM3_ENST00000309868.7_Missense_Mutation_p.R635Q|RP11-331K21.1_ENST00000522685.1_RNA|AC012613.2_ENST00000523176.1_RNA|ABLIM3_ENST00000326685.7_Missense_Mutation_p.R540Q|ABLIM3_ENST00000356541.3_Missense_Mutation_p.R524Q|ABLIM3_ENST00000508983.1_Missense_Mutation_p.R602Q|RP11-331K21.1_ENST00000512647.2_RNA			O94929	ABLM3_HUMAN	actin binding LIM protein family, member 3	635	HP.				axon guidance|cytoskeleton organization	cytoplasm	actin binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGAAGAAACCGACTGCCCAAG	0.488													28	110					0	0	1	0	0	A	148632366	G	A	148632366	3	1	362	1	0	0	0	0	1	0	0	0	96	1058	37	1	1990	1	ABLIM3	5	148632366	Missense_Mutation	SNP	G	TCGA-P5-A72U-01A-31D-A32B-08	7907313	148632366	32282894	19	31998											
BTNL8	79908	broad.mit.edu	37	5	180376261	180376261	+	Missense_Mutation	SNP	C	C	T	rs145611296		TCGA-P5-A72U-01A-31D-A32B-08	TCGA-P5-A72U-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e273ac4f-af5a-4671-813b-ce86f784fcbe	393cccc0-b27d-4b08-889c-1d74b31f3ce7	g.chr5:180376261C>T	ENST00000231229.4	+	7	1222	c.988C>T	c.(988-990)Cgc>Tgc	p.R330C	BTNL8_ENST00000508408.1_Missense_Mutation_p.R323C|BTNL8_ENST00000400707.3_Silent_p.H161H|BTNL8_ENST00000340184.4_Silent_p.H286H|BTNL8_ENST00000533815.2_Silent_p.H102H|BTNL8_ENST00000511704.1_Silent_p.H170H|BTNL8_ENST00000505126.1_Silent_p.H79H	NM_001159708.1|NM_024850.2	NP_001153180.1|NP_079126.1	Q6UX41	BTNL8_HUMAN	butyrophilin-like 8	481	B30.2/SPRY.					integral to membrane				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	28	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCCGGAAACACGCAGGTACCA	0.557													4	49					0	0	1	0	0	T	180376261	C	T	180376261	3	4	362	1	0	0	0	0	1	0	0	0	1570	536	19	1	1040	1	BTNL8	5	180376261	Missense_Mutation	SNP	C	TCGA-P5-A72U-01A-31D-A32B-08	31743895	180376261	538999	20	31999											
ITPR3	3710	broad.mit.edu	37	6	33643522	33643522	+	Silent	SNP	C	C	T			TCGA-P5-A72U-01A-31D-A32B-08	TCGA-P5-A72U-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e273ac4f-af5a-4671-813b-ce86f784fcbe	393cccc0-b27d-4b08-889c-1d74b31f3ce7	g.chr6:33643522C>T	ENST00000374316.5	+	26	4231	c.3171C>T	c.(3169-3171)cgC>cgT	p.R1057R	ITPR3_ENST00000605930.1_Silent_p.R1057R			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	1057					activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						TGTTCCTGCGCGTGCTCATCC	0.642													9	27					0	0	1	0	0	T	33643522	C	T	33643522	2	4	362	1	0	0	0	0	0	0	0	1	7966	755	27	1		1	ITPR3	6	33643522	Silent	SNP	C	TCGA-P5-A72U-01A-31D-A32B-08		33643522	137471545	21	32000											
TFAP2B	7021	broad.mit.edu	37	6	50791273	50791273	+	Missense_Mutation	SNP	T	T	G			TCGA-P5-A72U-01A-31D-A32B-08	TCGA-P5-A72U-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e273ac4f-af5a-4671-813b-ce86f784fcbe	393cccc0-b27d-4b08-889c-1d74b31f3ce7	g.chr6:50791273T>G	ENST00000263046.4	+	3	428	c.262T>G	c.(262-264)Tac>Gac	p.Y88D	TFAP2B_ENST00000393655.3_Missense_Mutation_p.Y79D|TFAP2B_ENST00000489228.1_3'UTR			Q92481	AP2B_HUMAN	transcription factor AP-2 beta (activating enhancer binding protein 2 beta)	79	Gln/Pro-rich (transactivation domain).				nervous system development|positive regulation of transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)	40	Lung NSC(77;0.156)					GCCGCTCCCCTACCACCAGAG	0.687													10	37					0	0	1	0	0	G	50791273	T	G	50791273	3	3	362	1	0	0	0	0	1	0	0	0	15848	1522	53	5	241	5	TFAP2B	6	50791273	Missense_Mutation	SNP	T	TCGA-P5-A72U-01A-31D-A32B-08	17147751	50791273	120323794	22	32001											
KDELR2	11014	broad.mit.edu	37	7	6505884	6505884	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A72U-01A-31D-A32B-08	TCGA-P5-A72U-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e273ac4f-af5a-4671-813b-ce86f784fcbe	393cccc0-b27d-4b08-889c-1d74b31f3ce7	g.chr7:6505884G>A	ENST00000258739.4	-	4	606	c.422C>T	c.(421-423)aCt>aTt	p.T141I	KDELR2_ENST00000490996.1_Intron|DAGLB_ENST00000436575.1_Intron|KDELR2_ENST00000463747.1_Intron	NM_006854.3	NP_006845.1	P33947	ERD22_HUMAN	KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 2	141					intracellular protein transport|protein retention in ER lumen|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi apparatus|integral to membrane	KDEL sequence binding|protein binding|receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(1)	10		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)		GGCCTCCCCAGTCTTGCTGAT	0.527													17	69					0	0	1	0	0	A	6505884	G	A	6505884	3	1	362	1	0	0	0	0	1	0	0	0	8164	1029	36	2	399	2	KDELR2	7	6505884	Missense_Mutation	SNP	G	TCGA-P5-A72U-01A-31D-A32B-08		6505884	152632779	23	32002											
PCLO	27445	broad.mit.edu	37	7	82581401	82581401	+	Silent	SNP	C	C	T			TCGA-P5-A72U-01A-31D-A32B-08	TCGA-P5-A72U-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e273ac4f-af5a-4671-813b-ce86f784fcbe	393cccc0-b27d-4b08-889c-1d74b31f3ce7	g.chr7:82581401C>T	ENST00000333891.9	-	5	9205	c.8868G>A	c.(8866-8868)caG>caA	p.Q2956Q	PCLO_ENST00000423517.2_Silent_p.Q2956Q	NM_033026.5	NP_149015.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein						cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TTGCAGGCTGCTGTGCTGTGC	0.448													20	113					0	0	1	0	0	T	82581401	C	T	82581401	2	4	362	1	0	0	0	0	0	0	0	1	11630	796	28	2		2	PCLO	7	82581401	Silent	SNP	C	TCGA-P5-A72U-01A-31D-A32B-08	76075517	82581401	76557262	24	32003											
PDIA4	9601	broad.mit.edu	37	7	148718147	148718147	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A72U-01A-31D-A32B-08	TCGA-P5-A72U-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e273ac4f-af5a-4671-813b-ce86f784fcbe	393cccc0-b27d-4b08-889c-1d74b31f3ce7	g.chr7:148718147C>T	ENST00000286091.4	-	2	413	c.181G>A	c.(181-183)Gaa>Aaa	p.E61K		NM_004911.4	NP_004902.1	P13667	PDIA4_HUMAN	protein disulfide isomerase family A, member 4	61	Thioredoxin 1.				cell redox homeostasis|glycerol ether metabolic process|protein secretion	endoplasmic reticulum lumen|melanosome	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			large_intestine(6)|lung(15)|ovary(2)|prostate(1)	24	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00385)			ACTCCATTTTCTTCCTTAACT	0.438													5	28					0	0	1	0	0	T	148718147	C	T	148718147	3	4	362	1	0	0	0	0	1	0	0	0	11717	922	32	2	1792	2	PDIA4	7	148718147	Missense_Mutation	SNP	C	TCGA-P5-A72U-01A-31D-A32B-08	66136746	148718147	10420516	25	32004											
SNX31	169166	broad.mit.edu	37	8	101620772	101620772	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A72U-01A-31D-A32B-08	TCGA-P5-A72U-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e273ac4f-af5a-4671-813b-ce86f784fcbe	393cccc0-b27d-4b08-889c-1d74b31f3ce7	g.chr8:101620772C>T	ENST00000311812.2	-	8	781	c.631G>A	c.(631-633)Gac>Aac	p.D211N	SNX31_ENST00000428383.2_Missense_Mutation_p.D112N	NM_152628.3	NP_689841.3	Q8N9S9	SNX31_HUMAN	sorting nexin 31	211					cell communication|protein transport		phosphatidylinositol binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|skin(3)|urinary_tract(1)	26	all_cancers(14;4.01e-05)|all_epithelial(15;1.26e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;1.21e-11)|all cancers(13;2.62e-09)|OV - Ovarian serous cystadenocarcinoma(57;3.22e-06)|STAD - Stomach adenocarcinoma(118;0.206)			AGCACGGAGTCGAGGGATGGA	0.532													6	39					0	0	1	0	0	T	101620772	C	T	101620772	3	4	362	1	0	0	0	0	1	0	0	0	14955	884	31	1	719	1	SNX31	8	101620772	Missense_Mutation	SNP	C	TCGA-P5-A72U-01A-31D-A32B-08		101620772	44743250	26	32005											
SNTB1	6641	broad.mit.edu	37	8	121706138	121706138	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A72U-01A-31D-A32B-08	TCGA-P5-A72U-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e273ac4f-af5a-4671-813b-ce86f784fcbe	393cccc0-b27d-4b08-889c-1d74b31f3ce7	g.chr8:121706138C>T	ENST00000395601.3	-	3	996	c.582G>A	c.(580-582)atG>atA	p.M194I	SNTB1_ENST00000517992.1_Missense_Mutation_p.M194I|SNTB1_ENST00000519177.1_5'UTR	NM_021021.3	NP_066301.1	Q13884	SNTB1_HUMAN	syntrophin, beta 1 (dystrophin-associated protein A1, 59kDa, basic component 1)	194	PDZ.|PH 1.				muscle contraction	cell junction|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|calmodulin binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(6)	24	Lung NSC(37;4.46e-09)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)		STAD - Stomach adenocarcinoma(47;0.00503)			TGGCTTCTCGCATGTACTTCA	0.488													3	34					0	0	1	0	0	T	121706138	C	T	121706138	3	4	362	1	0	0	0	0	1	0	0	0	14926	710	25	2	1058	2	SNTB1	8	121706138	Missense_Mutation	SNP	C	TCGA-P5-A72U-01A-31D-A32B-08	20085366	121706138	24657884	27	32006											
NANS	54187	broad.mit.edu	37	9	100843119	100843119	+	Missense_Mutation	SNP	G	G	T			TCGA-P5-A72U-01A-31D-A32B-08	TCGA-P5-A72U-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e273ac4f-af5a-4671-813b-ce86f784fcbe	393cccc0-b27d-4b08-889c-1d74b31f3ce7	g.chr9:100843119G>T	ENST00000210444.5	+	5	695	c.625G>T	c.(625-627)Gac>Tac	p.D209Y	NANS_ENST00000461452.1_3'UTR|TRIM14_ENST00000375098.3_Intron	NM_018946.3	NP_061819.2	Q9NR45	SIAS_HUMAN	N-acetylneuraminic acid synthase	209					lipopolysaccharide biosynthetic process	cytoplasm	N-acetylneuraminate synthase activity|N-acylneuraminate cytidylyltransferase activity|N-acylneuraminate-9-phosphate synthase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)	11		Acute lymphoblastic leukemia(62;0.0559)				GCTCTTTCCTGACATTCCCAT	0.428													25	75					3.6726e-16	4.11331e-16	1	1	0	T	100843119	G	T	100843119	3	4	362	1	0	0	0	0	1	0	0	0	10203	1290	45	5	643	5	NANS	9	100843119	Missense_Mutation	SNP	G	TCGA-P5-A72U-01A-31D-A32B-08		100843119	40370312	28	32007											
FAM129B	64855	broad.mit.edu	37	9	130285973	130285973	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A72U-01A-31D-A32B-08	TCGA-P5-A72U-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e273ac4f-af5a-4671-813b-ce86f784fcbe	393cccc0-b27d-4b08-889c-1d74b31f3ce7	g.chr9:130285973G>A	ENST00000373312.3	-	5	787	c.574C>T	c.(574-576)Cgg>Tgg	p.R192W	FAM129B_ENST00000373314.3_Missense_Mutation_p.R179W|FAM129B_ENST00000468379.1_Intron	NM_022833.2	NP_073744.2	Q96TA1	NIBL1_HUMAN	family with sequence similarity 129, member B	192	PH.						protein binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						TTGCAGTGCCGGATGCAGTCC	0.587											OREG0019507	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	37					0	0	1	0	0	A	130285973	G	A	130285973	3	1	362	1	0	0	0	0	1	0	0	0	5468	1115	39	1	1706	1	FAM129B	9	130285973	Missense_Mutation	SNP	G	TCGA-P5-A72U-01A-31D-A32B-08	29442854	130285973	10927458	29	32008											
EGFL7	51162	broad.mit.edu	37	9	139563048	139563048	+	Silent	SNP	C	C	T			TCGA-P5-A72U-01A-31D-A32B-08	TCGA-P5-A72U-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e273ac4f-af5a-4671-813b-ce86f784fcbe	393cccc0-b27d-4b08-889c-1d74b31f3ce7	g.chr9:139563048C>T	ENST00000371699.1	+	4	1031	c.120C>T	c.(118-120)gtC>gtT	p.V40V	EGFL7_ENST00000308874.7_Silent_p.V40V|EGFL7_ENST00000406555.3_Silent_p.V40V|EGFL7_ENST00000371698.3_Silent_p.V40V|EGFL7_ENST00000492002.1_3'UTR			Q9UHF1	EGFL7_HUMAN	EGF-like-domain, multiple 7	40	EMI.				angiogenesis|vasculogenesis		calcium ion binding			kidney(2)|ovary(1)|prostate(2)|urinary_tract(1)	6	all_cancers(76;0.109)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;9.87e-06)|Epithelial(140;0.000123)		GGGACCCTGTCTCCGAGTCGT	0.677													26	77					0	0	1	0	0	T	139563048	C	T	139563048	2	4	362	1	0	0	0	0	0	0	0	1	4990	900	32	2		2	EGFL7	9	139563048	Silent	SNP	C	TCGA-P5-A72U-01A-31D-A32B-08	9277075	139563048	1650383	30	32009											
MYO3A	53904	broad.mit.edu	37	10	26377316	26377316	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A72U-01A-31D-A32B-08	TCGA-P5-A72U-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e273ac4f-af5a-4671-813b-ce86f784fcbe	393cccc0-b27d-4b08-889c-1d74b31f3ce7	g.chr10:26377316G>A	ENST00000265944.5	+	15	1710	c.1544G>A	c.(1543-1545)cGa>cAa	p.R515Q	MYO3A_ENST00000543632.1_Missense_Mutation_p.R515Q	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	515	Myosin head-like.				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						GAAAAATCCCGAGTTATCCAC	0.358													11	19					0	0	1	0	0	A	26377316	G	A	26377316	3	1	362	1	0	0	0	0	1	0	0	0	10124	1058	37	1	1594	1	MYO3A	10	26377316	Missense_Mutation	SNP	G	TCGA-P5-A72U-01A-31D-A32B-08		26377316	109157431	31	32010											
DMBT1	1755	broad.mit.edu	37	10	124392720	124392720	+	Silent	SNP	C	C	T			TCGA-P5-A72U-01A-31D-A32B-08	TCGA-P5-A72U-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e273ac4f-af5a-4671-813b-ce86f784fcbe	393cccc0-b27d-4b08-889c-1d74b31f3ce7	g.chr10:124392720C>T	ENST00000368909.3	+	49	6130	c.6024C>T	c.(6022-6024)tgC>tgT	p.C2008C	DMBT1_ENST00000344338.3_Silent_p.C1998C|DMBT1_ENST00000330163.4_Silent_p.C1380C|DMBT1_ENST00000338354.3_Silent_p.C2008C|DMBT1_ENST00000368955.3_Silent_p.C1998C|DMBT1_ENST00000359586.6_Silent_p.C728C|DMBT1_ENST00000368956.2_Silent_p.C1380C	NM_007329.2	NP_015568.2	Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	2008	CUB 2.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				ATTATTCCTGCGGAGGCTTCC	0.478													15	42					0	0	1	0	0	T	124392720	C	T	124392720	2	4	362	1	0	0	0	0	0	0	0	1	4605	776	27	1		1	DMBT1	10	124392720	Silent	SNP	C	TCGA-P5-A72U-01A-31D-A32B-08	98015404	124392720	11142027	32	32011											
CUZD1	50624	broad.mit.edu	37	10	124594347	124594347	+	Silent	SNP	G	G	A			TCGA-P5-A72U-01A-31D-A32B-08	TCGA-P5-A72U-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e273ac4f-af5a-4671-813b-ce86f784fcbe	393cccc0-b27d-4b08-889c-1d74b31f3ce7	g.chr10:124594347G>A	ENST00000368904.1	-	9	2206	c.1257C>T	c.(1255-1257)aaC>aaT	p.N419N	CUZD1_ENST00000545804.1_Silent_p.N419N|CUZD1_ENST00000392790.1_Silent_p.N419N			Q86UP6	CUZD1_HUMAN	CUB and zona pellucida-like domains 1	419	ZP.				cell cycle|cell division|cell proliferation|substrate-dependent cell migration, cell attachment to substrate|trypsinogen activation	integral to membrane|transport vesicle membrane|zymogen granule membrane				NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|stomach(1)	39		all_neural(114;0.169)|Glioma(114;0.222)		Colorectal(40;0.126)|COAD - Colon adenocarcinoma(40;0.141)		AAAGAGTTTGGTTCAAATCCA	0.393													12	12					0	0	1	0	0	A	124594347	G	A	124594347	2	1	362	1	0	0	0	0	0	0	0	1	4089	1252	44	2		2	CUZD1	10	124594347	Silent	SNP	G	TCGA-P5-A72U-01A-31D-A32B-08	201627	124594347	10940400	33	32012											
RIC8A	60626	broad.mit.edu	37	11	210610	210610	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A72U-01A-31D-A32B-08	TCGA-P5-A72U-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e273ac4f-af5a-4671-813b-ce86f784fcbe	393cccc0-b27d-4b08-889c-1d74b31f3ce7	g.chr11:210610C>T	ENST00000526104.1	+	4	2110	c.766C>T	c.(766-768)Cgg>Tgg	p.R256W	RIC8A_ENST00000325207.5_Missense_Mutation_p.R256W|RIC8A_ENST00000527696.1_Missense_Mutation_p.R250W			Q9NPQ8	RIC8A_HUMAN	RIC8 guanine nucleotide exchange factor A	256						cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1)	13		all_cancers(49;9.23e-07)|all_epithelial(84;0.000315)|Breast(177;0.00122)|Ovarian(85;0.0202)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.45e-27)|Epithelial(43;2.94e-26)|OV - Ovarian serous cystadenocarcinoma(40;5.86e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.105)|LUSC - Lung squamous cell carcinoma(625;0.122)		GACCCTTCTCCGGCACTGTGT	0.577													26	90					0	0	1	0	0	T	210610	C	T	210610	3	4	362	1	0	0	0	0	1	0	0	0	13405	643	23	1	780	1	RIC8A	11	210610	Missense_Mutation	SNP	C	TCGA-P5-A72U-01A-31D-A32B-08		210610	134795906	34	32013											
RRM1	6240	broad.mit.edu	37	11	4144500	4144500	+	Silent	SNP	C	C	T			TCGA-P5-A72U-01A-31D-A32B-08	TCGA-P5-A72U-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e273ac4f-af5a-4671-813b-ce86f784fcbe	393cccc0-b27d-4b08-889c-1d74b31f3ce7	g.chr11:4144500C>T	ENST00000300738.5	+	12	1410	c.1206C>T	c.(1204-1206)acC>acT	p.T402T	RRM1_ENST00000534285.1_Silent_p.T180T|RRM1_ENST00000528470.1_3'UTR|RRM1_ENST00000537197.1_Silent_p.T64T|RRM1_ENST00000423050.2_Silent_p.T305T	NM_001033.3	NP_001024.1	P23921	RIR1_HUMAN	ribonucleotide reductase M1	402					deoxyribonucleotide biosynthetic process|DNA replication|nucleobase, nucleoside and nucleotide interconversion	cytosol|nucleoplasm|ribonucleoside-diphosphate reductase complex	ATP binding|ribonucleoside-diphosphate reductase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2)	14		Medulloblastoma(188;0.0025)|Breast(177;0.00502)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0848)|LUSC - Lung squamous cell carcinoma(625;0.205)	Clofarabine(DB00631)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Hydroxyurea(DB01005)	AAACAGGCACCCCGTATATGC	0.463													14	71					0	0	1	0	0	T	4144500	C	T	4144500	2	4	362	1	0	0	0	0	0	0	0	1	13733	610	22	2		2	RRM1	11	4144500	Silent	SNP	C	TCGA-P5-A72U-01A-31D-A32B-08	3933890	4144500	130862016	35	32014											
RBMXL2	27288	broad.mit.edu	37	11	7111074	7111074	+	Silent	SNP	C	C	T			TCGA-P5-A72U-01A-31D-A32B-08	TCGA-P5-A72U-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e273ac4f-af5a-4671-813b-ce86f784fcbe	393cccc0-b27d-4b08-889c-1d74b31f3ce7	g.chr11:7111074C>T	ENST00000306904.5	+	1	910	c.723C>T	c.(721-723)cgC>cgT	p.R241R		NM_014469.4	NP_055284.3	O75526	HNRGT_HUMAN	RNA binding motif protein, X-linked-like 2	241	Arg/Gly/Pro-rich.					nucleus|ribonucleoprotein complex	nucleotide binding|RNA binding			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15				Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		ACACCCACCGCGATTACGGCC	0.657													6	29					0	0	1	0	0	T	7111074	C	T	7111074	2	4	362	1	0	0	0	0	0	0	0	1	13206	755	27	1		1	RBMXL2	11	7111074	Silent	SNP	C	TCGA-P5-A72U-01A-31D-A32B-08	2966574	7111074	127895442	36	32015											
ZDHHC13	54503	broad.mit.edu	37	11	19197407	19197407	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A72U-01A-31D-A32B-08	TCGA-P5-A72U-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e273ac4f-af5a-4671-813b-ce86f784fcbe	393cccc0-b27d-4b08-889c-1d74b31f3ce7	g.chr11:19197407G>A	ENST00000446113.2	+	17	1890	c.1769G>A	c.(1768-1770)tGt>tAt	p.C590Y	ZDHHC13_ENST00000399351.3_Missense_Mutation_p.C460Y	NM_019028.2	NP_061901.2	Q8IUH4	ZDH13_HUMAN	zinc finger, DHHC-type containing 13	590					positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi-associated vesicle membrane|integral to membrane	magnesium ion transmembrane transporter activity|palmitoyltransferase activity|signal transducer activity|zinc ion binding			NS(1)|kidney(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	6						TTCTTTCAGTGTGGCTGCTTT	0.443													14	44					0	0	1	0	0	A	19197407	G	A	19197407	3	1	362	1	0	0	0	0	1	0	0	0	17661	1377	48	2	1835	2	ZDHHC13	11	19197407	Missense_Mutation	SNP	G	TCGA-P5-A72U-01A-31D-A32B-08	12086333	19197407	115809109	37	32016											
MADD	8567	broad.mit.edu	37	11	47311780	47311780	+	Silent	SNP	C	C	T	rs141671072		TCGA-P5-A72U-01A-31D-A32B-08	TCGA-P5-A72U-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e273ac4f-af5a-4671-813b-ce86f784fcbe	393cccc0-b27d-4b08-889c-1d74b31f3ce7	g.chr11:47311780C>T	ENST00000342922.4	+	18	3381	c.3024C>T	c.(3022-3024)caC>caT	p.H1008H	MADD_ENST00000349238.3_Silent_p.H1028H|MADD_ENST00000395336.3_Silent_p.H1028H|MADD_ENST00000395344.3_Silent_p.H965H|MADD_ENST00000402799.1_Silent_p.H965H|MADD_ENST00000406482.1_Silent_p.H965H|MADD_ENST00000402192.2_Silent_p.H1008H|MADD_ENST00000407859.3_Silent_p.H985H|MADD_ENST00000311027.5_Silent_p.H1028H	NM_130470.2	NP_569826.2	Q8WXG6	MADD_HUMAN	MAP-kinase activating death domain	1028					activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle	cytoplasm|integral to membrane|plasma membrane	death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity			breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84				Lung(87;0.182)		CCTATGCCCACGCGGGTCTGG	0.547													14	46					0	0	1	0	0	T	47311780	C	T	47311780	2	4	362	1	0	0	0	0	0	0	0	1	9198	535	19	1		1	MADD	11	47311780	Silent	SNP	C	TCGA-P5-A72U-01A-31D-A32B-08	28114373	47311780	87694736	38	32017											
DTX4	23220	broad.mit.edu	37	11	58972233	58972233	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A72U-01A-31D-A32B-08	TCGA-P5-A72U-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e273ac4f-af5a-4671-813b-ce86f784fcbe	393cccc0-b27d-4b08-889c-1d74b31f3ce7	g.chr11:58972233G>A	ENST00000227451.3	+	9	1815	c.1711G>A	c.(1711-1713)Gtc>Atc	p.V571I	DTX4_ENST00000532982.1_Missense_Mutation_p.V465I	NM_015177.1	NP_055992.1	Q9Y2E6	DTX4_HUMAN	deltex homolog 4 (Drosophila)	571					Notch signaling pathway	cytoplasm	zinc ion binding	p.V465I(1)		central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	20		all_epithelial(135;0.125)				GTCAGACACCGTCATCTGGAA	0.532													5	12					0	0	1	0	0	A	58972233	G	A	58972233	3	1	362	1	0	0	0	0	1	0	0	0	4823	1145	40	1	1745	1	DTX4	11	58972233	Missense_Mutation	SNP	G	TCGA-P5-A72U-01A-31D-A32B-08	11660453	58972233	76034283	39	32018											
PGR	5241	broad.mit.edu	37	11	100998907	100998907	+	Missense_Mutation	SNP	T	T	C			TCGA-P5-A72U-01A-31D-A32B-08	TCGA-P5-A72U-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e273ac4f-af5a-4671-813b-ce86f784fcbe	393cccc0-b27d-4b08-889c-1d74b31f3ce7	g.chr11:100998907T>C	ENST00000325455.5	-	1	2348	c.895A>G	c.(895-897)Acg>Gcg	p.T299A	PGR_ENST00000534013.1_Intron|PGR_ENST00000263463.5_Missense_Mutation_p.T299A	NM_000926.4|NM_001202474.1|NM_001271162.1	NP_000917.3|NP_001189403.1|NP_001258091.1	P06401	PRGR_HUMAN	progesterone receptor	299	Modulating, Pro-Rich.				cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)	TCCATCACCGTGGTGGCCAGC	0.662													6	17					0	0	1	0	0	C	100998907	T	C	100998907	3	2	362	1	0	0	0	0	1	0	0	0	11853	1696	59	3	1938	3	PGR	11	100998907	Missense_Mutation	SNP	T	TCGA-P5-A72U-01A-31D-A32B-08	42026674	100998907	34007609	40	32019											
ABCC9	10060	broad.mit.edu	37	12	22005315	22005315	+	Missense_Mutation	SNP	G	G	A	rs140872303		TCGA-P5-A72U-01A-31D-A32B-08	TCGA-P5-A72U-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e273ac4f-af5a-4671-813b-ce86f784fcbe	393cccc0-b27d-4b08-889c-1d74b31f3ce7	g.chr12:22005315G>A	ENST00000261200.4	-	21	2629	c.2630C>T	c.(2629-2631)aCg>aTg	p.T877M	ABCC9_ENST00000261201.4_Missense_Mutation_p.T877M|RP11-729I10.2_ENST00000539874.1_RNA|ABCC9_ENST00000345162.2_Missense_Mutation_p.T841M	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	877	ABC transporter 1.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	GTCAGCATGCGTCAGATACTG	0.338													18	101					0	0	1	0	0	A	22005315	G	A	22005315	3	1	362	1	0	0	0	0	1	0	0	0	59	1145	40	1	2233	1	ABCC9	12	22005315	Missense_Mutation	SNP	G	TCGA-P5-A72U-01A-31D-A32B-08		22005315	111846580	41	32020											
MED13L	23389	broad.mit.edu	37	12	116418604	116418605	+	Frame_Shift_Ins	INS	-	-	T			TCGA-P5-A72U-01A-31D-A32B-08	TCGA-P5-A72U-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e273ac4f-af5a-4671-813b-ce86f784fcbe	393cccc0-b27d-4b08-889c-1d74b31f3ce7	g.chr12:116418604_116418605insT	ENST00000281928.3	-	23	5520_5521	c.5314_5315insA	c.(5314-5316)acgfs	p.T1772fs		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	1772					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent					NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		CCCAAATCCCGTGAGGGATTTA	0.45													26	86	---	---	---	---						T	116418605	-	T	116418604	7	5	362	1	0	1	1	0	0	0	0	0	9481	1145	40	0	1353	0	MED13L	12	116418604	Frame_Shift_Ins	INS	-	TCGA-P5-A72U-01A-31D-A32B-08	94413289	116418604	17433291	42	32021											
TMEM132D	121256	broad.mit.edu	37	12	129569084	129569084	+	Missense_Mutation	SNP	T	T	C			TCGA-P5-A72U-01A-31D-A32B-08	TCGA-P5-A72U-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e273ac4f-af5a-4671-813b-ce86f784fcbe	393cccc0-b27d-4b08-889c-1d74b31f3ce7	g.chr12:129569084T>C	ENST00000422113.2	-	6	1933	c.1607A>G	c.(1606-1608)aAt>aGt	p.N536S	TMEM132D_ENST00000389441.4_Missense_Mutation_p.N74S	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	536						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		CTTGATCTGATTGAGCTCGGT	0.592													4	14					0	0	1	0	0	C	129569084	T	C	129569084	3	2	362	1	0	0	0	0	1	0	0	0	16107	1493	52	3	1708	3	TMEM132D	12	129569084	Missense_Mutation	SNP	T	TCGA-P5-A72U-01A-31D-A32B-08	13150480	129569084	4282811	43	32022											
RCBTB1	55213	broad.mit.edu	37	13	50123697	50123697	+	Silent	SNP	C	C	T			TCGA-P5-A72U-01A-31D-A32B-08	TCGA-P5-A72U-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e273ac4f-af5a-4671-813b-ce86f784fcbe	393cccc0-b27d-4b08-889c-1d74b31f3ce7	g.chr13:50123697C>T	ENST00000378302.2	-	9	1202	c.942G>A	c.(940-942)cgG>cgA	p.R314R	RCBTB1_ENST00000258646.3_Silent_p.R314R|RCBTB1_ENST00000546015.1_Silent_p.R314R	NM_018191.3	NP_060661.3	Q8NDN9	RCBT1_HUMAN	regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 1	314					cell cycle|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|urinary_tract(1)	16		Lung NSC(96;2.1e-05)|Breast(56;0.00015)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;4.7e-09)		CGGACTGACCCCGGCACTGGC	0.617													9	49					0	0	1	0	0	T	50123697	C	T	50123697	2	4	362	1	0	0	0	0	0	0	0	1	13223	610	22	2		2	RCBTB1	13	50123697	Silent	SNP	C	TCGA-P5-A72U-01A-31D-A32B-08		50123697	65046181	44	32023											
FAM161B	145483	broad.mit.edu	37	14	74404345	74404345	+	Missense_Mutation	SNP	C	C	A			TCGA-P5-A72U-01A-31D-A32B-08	TCGA-P5-A72U-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e273ac4f-af5a-4671-813b-ce86f784fcbe	393cccc0-b27d-4b08-889c-1d74b31f3ce7	g.chr14:74404345C>A	ENST00000286544.3	-	7	2012	c.1814G>T	c.(1813-1815)cGa>cTa	p.R605L	FAM161B_ENST00000534936.1_Missense_Mutation_p.R542L|RP5-1021I20.5_ENST00000555916.1_RNA	NM_152445.2	NP_689658.2			family with sequence similarity 161, member B											breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)	21						TGTTTGTATTCGCTGCTTCAT	0.343													4	162					0.184627	0.184627	1	1	0	A	74404345	C	A	74404345	3	1	362	1	0	0	0	0	1	0	0	0	5503	884	31	5	330	5	FAM161B	14	74404345	Missense_Mutation	SNP	C	TCGA-P5-A72U-01A-31D-A32B-08		74404345	32945195	45	32024											
ITGAX	3687	broad.mit.edu	37	16	31388578	31388578	+	Silent	SNP	G	G	A			TCGA-P5-A72U-01A-31D-A32B-08	TCGA-P5-A72U-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e273ac4f-af5a-4671-813b-ce86f784fcbe	393cccc0-b27d-4b08-889c-1d74b31f3ce7	g.chr16:31388578G>A	ENST00000268296.4	+	23	2902	c.2781G>A	c.(2779-2781)gtG>gtA	p.V927V	ITGAX_ENST00000562522.1_Silent_p.V927V	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	927					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						TCTACACTGTGGTTAGCAGGT	0.502													15	76					0	0	1	0	0	A	31388578	G	A	31388578	2	1	362	1	0	0	0	0	0	0	0	1	7933	1335	47	2		2	ITGAX	16	31388578	Silent	SNP	G	TCGA-P5-A72U-01A-31D-A32B-08		31388578	58966175	46	32025											
NUP93	9688	broad.mit.edu	37	16	56792500	56792500	+	Missense_Mutation	SNP	G	G	T			TCGA-P5-A72U-01A-31D-A32B-08	TCGA-P5-A72U-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e273ac4f-af5a-4671-813b-ce86f784fcbe	393cccc0-b27d-4b08-889c-1d74b31f3ce7	g.chr16:56792500G>T	ENST00000569842.1	+	3	326	c.230G>T	c.(229-231)cGa>cTa	p.R77L	NUP93_ENST00000308159.5_Missense_Mutation_p.R77L			Q8N1F7	NUP93_HUMAN	nucleoporin 93kDa	77					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(2)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						ATCTCCCAGCGATTGGAGAGT	0.507													15	57					6.72482e-11	7.33617e-11	1	1	0	T	56792500	G	T	56792500	3	4	362	1	0	0	0	0	1	0	0	0	10820	1058	37	5	236	5	NUP93	16	56792500	Missense_Mutation	SNP	G	TCGA-P5-A72U-01A-31D-A32B-08	25403922	56792500	33562253	47	32026											
AARS	16	broad.mit.edu	37	16	70287893	70287893	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A72U-01A-31D-A32B-08	TCGA-P5-A72U-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e273ac4f-af5a-4671-813b-ce86f784fcbe	393cccc0-b27d-4b08-889c-1d74b31f3ce7	g.chr16:70287893C>T	ENST00000261772.8	-	18	2592	c.2449G>A	c.(2449-2451)Gag>Aag	p.E817K		NM_001605.2	NP_001596.2	P49588	SYAC_HUMAN	alanyl-tRNA synthetase	817					alanyl-tRNA aminoacylation|tRNA processing	cytosol|soluble fraction	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding			breast(3)|cervix(2)|endometrium(5)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0365)		BRCA - Breast invasive adenocarcinoma(221;0.161)	L-Alanine(DB00160)	TTGAGAGTCTCCCGCAATTCA	0.557											OREG0023912	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	28	129					0	0	1	0	0	T	70287893	C	T	70287893	3	4	362	1	0	0	0	0	1	0	0	0	19	864	30	2	473	2	AARS	16	70287893	Missense_Mutation	SNP	C	TCGA-P5-A72U-01A-31D-A32B-08	13495393	70287893	20066860	48	32027											
SGSM2	9905	broad.mit.edu	37	17	2268242	2268242	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A72U-01A-31D-A32B-08	TCGA-P5-A72U-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e273ac4f-af5a-4671-813b-ce86f784fcbe	393cccc0-b27d-4b08-889c-1d74b31f3ce7	g.chr17:2268242C>T	ENST00000268989.3	+	10	1229	c.1052C>T	c.(1051-1053)cCg>cTg	p.P351L	SGSM2_ENST00000574563.1_Missense_Mutation_p.P351L|SGSM2_ENST00000426855.2_Missense_Mutation_p.P351L	NM_014853.2	NP_055668.2	O43147	SGSM2_HUMAN	small G protein signaling modulator 2	351						intracellular	Rab GTPase activator activity			biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(2;5.15e-05)|READ - Rectum adenocarcinoma(2;0.000115)		CAGAGGCCGCCGCTGCATTTC	0.647													8	26					0	0	1	0	0	T	2268242	C	T	2268242	3	4	362	1	0	0	0	0	1	0	0	0	14277	652	23	1	1090	1	SGSM2	17	2268242	Missense_Mutation	SNP	C	TCGA-P5-A72U-01A-31D-A32B-08		2268242	78926968	49	32028											
DNAH2	146754	broad.mit.edu	37	17	7724586	7724586	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A72U-01A-31D-A32B-08	TCGA-P5-A72U-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e273ac4f-af5a-4671-813b-ce86f784fcbe	393cccc0-b27d-4b08-889c-1d74b31f3ce7	g.chr17:7724586C>T	ENST00000572933.1	+	73	12501	c.11041C>T	c.(11041-11043)Cgc>Tgc	p.R3681C	DNAH2_ENST00000389173.2_Missense_Mutation_p.R3681C			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	3681					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CCTTTTCGAACGCCACAAACT	0.498													10	97					0	0	1	0	0	T	7724586	C	T	7724586	3	4	362	1	0	0	0	0	1	0	0	0	4630	536	19	1	11327	1	DNAH2	17	7724586	Missense_Mutation	SNP	C	TCGA-P5-A72U-01A-31D-A32B-08	5456344	7724586	73470624	50	32029											
PSMD11	5717	broad.mit.edu	37	17	30807620	30807620	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A72U-01A-31D-A32B-08	TCGA-P5-A72U-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e273ac4f-af5a-4671-813b-ce86f784fcbe	393cccc0-b27d-4b08-889c-1d74b31f3ce7	g.chr17:30807620C>T	ENST00000261712.3	+	13	1503	c.1240C>T	c.(1240-1242)Ctc>Ttc	p.L414F	PSMD11_ENST00000457654.2_Missense_Mutation_p.L414F	NM_001270482.1|NM_002815.3	NP_001257411.1|NP_002806.2	O00231	PSD11_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 11	414					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome complex	protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	19		Breast(31;0.159)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.109)			AGTGGATTCCCTCTACAACAA	0.498													3	41					0	0	1	0	0	T	30807620	C	T	30807620	3	4	362	1	0	0	0	0	1	0	0	0	12743	681	24	2	1290	2	PSMD11	17	30807620	Missense_Mutation	SNP	C	TCGA-P5-A72U-01A-31D-A32B-08	23083034	30807620	50387590	51	32030											
KRT40	125115	broad.mit.edu	37	17	39135153	39135153	+	Nonsense_Mutation	SNP	G	G	A			TCGA-P5-A72U-01A-31D-A32B-08	TCGA-P5-A72U-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e273ac4f-af5a-4671-813b-ce86f784fcbe	393cccc0-b27d-4b08-889c-1d74b31f3ce7	g.chr17:39135153G>A	ENST00000377755.4	-	6	1133	c.1099C>T	c.(1099-1101)Cga>Tga	p.R367*	KRT40_ENST00000398486.2_Nonsense_Mutation_p.R367*			Q6A162	K1C40_HUMAN	keratin 40	367	Coil 2.|Rod.					intermediate filament	structural molecule activity			endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	9		Breast(137;0.00043)				TGGTTCTGTCGCTCCAGGTCG	0.617													4	130					0	0	1	0	0	A	39135153	G	A	39135153	4	1	362	1	0	0	0	0	0	1	0	0	8521	1095	38	1	204	1	KRT40	17	39135153	Nonsense_Mutation	SNP	G	TCGA-P5-A72U-01A-31D-A32B-08	8327533	39135153	42060057	52	32031											
LAMA3	3909	broad.mit.edu	37	18	21484035	21484035	+	Missense_Mutation	SNP	G	G	T			TCGA-P5-A72U-01A-31D-A32B-08	TCGA-P5-A72U-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e273ac4f-af5a-4671-813b-ce86f784fcbe	393cccc0-b27d-4b08-889c-1d74b31f3ce7	g.chr18:21484035G>T	ENST00000313654.9	+	50	6698	c.6457G>T	c.(6457-6459)Gca>Tca	p.A2153S	LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000587184.1_Missense_Mutation_p.A488S|LAMA3_ENST00000269217.6_Missense_Mutation_p.A544S|LAMA3_ENST00000399516.3_Missense_Mutation_p.A2097S	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	2153	Domain II and I.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	ACAAGAGCTGGCAAAGCAGCT	0.552													19	69					2.4624e-09	2.58552e-09	1	1	0	T	21484035	G	T	21484035	3	4	362	1	0	0	0	0	1	0	0	0	8646	1203	42	5	6830	5	LAMA3	18	21484035	Missense_Mutation	SNP	G	TCGA-P5-A72U-01A-31D-A32B-08		21484035	56593213	53	32032											
PPP1R15A	23645	broad.mit.edu	37	19	49377238	49377238	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A72U-01A-31D-A32B-08	TCGA-P5-A72U-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e273ac4f-af5a-4671-813b-ce86f784fcbe	393cccc0-b27d-4b08-889c-1d74b31f3ce7	g.chr19:49377238C>T	ENST00000200453.5	+	2	1017	c.748C>T	c.(748-750)Ccc>Tcc	p.P250S		NM_014330.3	NP_055145.3	O75807	PR15A_HUMAN	protein phosphatase 1, regulatory subunit 15A	250	Glu-rich.				apoptosis|cell cycle arrest|regulation of translation|response to DNA damage stimulus	endoplasmic reticulum	protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(8)|skin(2)|urinary_tract(1)	23		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000244)|all cancers(93;0.000694)|GBM - Glioblastoma multiforme(486;0.0222)|Epithelial(262;0.033)		CTCCGTGTCCCCCCGATCTTC	0.557													10	48					0	0	1	0	0	T	49377238	C	T	49377238	3	4	362	1	0	0	0	0	1	0	0	0	12412	623	22	2	750	2	PPP1R15A	19	49377238	Missense_Mutation	SNP	C	TCGA-P5-A72U-01A-31D-A32B-08		49377238	9751745	54	32033											
NLRP12	91662	broad.mit.edu	37	19	54314082	54314082	+	Silent	SNP	C	C	T			TCGA-P5-A72U-01A-31D-A32B-08	TCGA-P5-A72U-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e273ac4f-af5a-4671-813b-ce86f784fcbe	393cccc0-b27d-4b08-889c-1d74b31f3ce7	g.chr19:54314082C>T	ENST00000324134.6	-	3	999	c.831G>A	c.(829-831)gcG>gcA	p.A277A	NLRP12_ENST00000345770.5_Silent_p.A277A|NLRP12_ENST00000391775.3_Silent_p.A277A|NLRP12_ENST00000354278.3_Silent_p.A277A|NLRP12_ENST00000351894.4_Silent_p.A277A|NLRP12_ENST00000391773.1_Silent_p.A277A|NLRP12_ENST00000535162.1_Silent_p.A277A|NLRP12_ENST00000391772.1_Silent_p.A277A	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	277	NACHT.				negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		CCTGGAGAGGCGCGCTGGGCT	0.557													13	44					0	0	1	0	0	T	54314082	C	T	54314082	2	4	362	1	0	0	0	0	0	0	0	1	10521	755	27	1		1	NLRP12	19	54314082	Silent	SNP	C	TCGA-P5-A72U-01A-31D-A32B-08	4936844	54314082	4814901	55	32034											
ZNF135	7694	broad.mit.edu	37	19	58578819	58578819	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A72U-01A-31D-A32B-08	TCGA-P5-A72U-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e273ac4f-af5a-4671-813b-ce86f784fcbe	393cccc0-b27d-4b08-889c-1d74b31f3ce7	g.chr19:58578819G>A	ENST00000506786.1	+	5	1395	c.841G>A	c.(841-843)Gag>Aag	p.E281K	ZNF135_ENST00000439855.2_Missense_Mutation_p.E323K|ZNF135_ENST00000401053.4_Missense_Mutation_p.E347K|ZNF135_ENST00000313434.5_Missense_Mutation_p.E323K|ZNF135_ENST00000359978.6_Missense_Mutation_p.E335K|ZNF135_ENST00000511556.1_Missense_Mutation_p.E335K			B4DHH9	B4DHH9_HUMAN	zinc finger protein 135	335					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	p.E347K(1)|p.E323K(1)		breast(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1)	41		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)		TCACACAGGCGAGAAGCCCTA	0.542													13	44					0	0	1	0	0	A	58578819	G	A	58578819	3	1	362	1	0	0	0	0	1	0	0	0	17783	1059	37	1	1170	1	ZNF135	19	58578819	Missense_Mutation	SNP	G	TCGA-P5-A72U-01A-31D-A32B-08	4264737	58578819	550164	56	32035											
PLCB1	23236	broad.mit.edu	37	20	8862382	8862382	+	Silent	SNP	C	C	T			TCGA-P5-A72U-01A-31D-A32B-08	TCGA-P5-A72U-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e273ac4f-af5a-4671-813b-ce86f784fcbe	393cccc0-b27d-4b08-889c-1d74b31f3ce7	g.chr20:8862382C>T	ENST00000338037.6	+	32	3564	c.3537C>T	c.(3535-3537)caC>caT	p.H1179H	PLCB1_ENST00000378641.3_3'UTR	NM_015192.2	NP_056007.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	1179					activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						ACAGCAATCACGGTTCTGCCC	0.493													49	140					0	0	1	0	0	T	8862382	C	T	8862382	2	4	362	1	0	0	0	0	0	0	0	1	12075	535	19	1		1	PLCB1	20	8862382	Silent	SNP	C	TCGA-P5-A72U-01A-31D-A32B-08		8862382	54163138	57	32036											
MX2	4600	broad.mit.edu	37	21	42774001	42774001	+	Nonsense_Mutation	SNP	C	C	T			TCGA-P5-A72U-01A-31D-A32B-08	TCGA-P5-A72U-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e273ac4f-af5a-4671-813b-ce86f784fcbe	393cccc0-b27d-4b08-889c-1d74b31f3ce7	g.chr21:42774001C>T	ENST00000330714.3	+	11	1703	c.1519C>T	c.(1519-1521)Cag>Tag	p.Q507*	MX2_ENST00000496774.1_3'UTR	NM_002463.1	NP_002454.1	P20592	MX2_HUMAN	myxovirus (influenza virus) resistance 2 (mouse)	507					response to virus|type I interferon-mediated signaling pathway	cytoplasm|nucleus	GTP binding|GTPase activity			breast(2)|endometrium(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	34		Prostate(19;1.57e-07)|all_epithelial(19;0.0222)				CATCGTGCATCAGTACATCCA	0.458													11	59					0	0	1	0	0	T	42774001	C	T	42774001	4	4	362	1	0	0	0	0	0	1	0	0	10046	827	29	2	1557	2	MX2	21	42774001	Nonsense_Mutation	SNP	C	TCGA-P5-A72U-01A-31D-A32B-08		42774001	5355894	58	32037											
LZTR1	8216	broad.mit.edu	37	22	21349017	21349017	+	Splice_Site	SNP	G	G	A	rs145594158		TCGA-P5-A72U-01A-31D-A32B-08	TCGA-P5-A72U-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e273ac4f-af5a-4671-813b-ce86f784fcbe	393cccc0-b27d-4b08-889c-1d74b31f3ce7	g.chr22:21349017G>A	ENST00000215739.8	+	15	2144		c.e15+1		LZTR1_ENST00000389355.3_Splice_Site|LZTR1_ENST00000479606.1_Splice_Site	NM_006767.3	NP_006758.2	Q8N653	LZTR1_HUMAN	leucine-zipper-like transcription regulator 1						anatomical structure morphogenesis		sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			CCAACTCAAGGTGTGGGGTGG	0.682													8	17					0	0	1	0	0	A	21349017	G	A	21349017	5	1	362	1	0	0	0	0	0	0	1	0	9183	1275	44	2	1844	2	LZTR1	22	21349017	Splice_Site	SNP	G	TCGA-P5-A72U-01A-31D-A32B-08		21349017	29955549	59	32038											
SREBF2	6721	broad.mit.edu	37	22	42266998	42266998	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A72U-01A-31D-A32B-08	TCGA-P5-A72U-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e273ac4f-af5a-4671-813b-ce86f784fcbe	393cccc0-b27d-4b08-889c-1d74b31f3ce7	g.chr22:42266998G>A	ENST00000361204.4	+	4	992	c.826G>A	c.(826-828)Gcc>Acc	p.A276T		NM_004599.2	NP_004590.2	Q12772	SRBP2_HUMAN	sterol regulatory element binding transcription factor 2	276	Interaction with LMNA (By similarity).				cholesterol metabolic process	ER to Golgi transport vesicle membrane|Golgi membrane|nucleus|SREBP-SCAP-Insig complex	protein C-terminus binding			NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						GGCCCTCACCGCCCTCACCAC	0.577													50	83					0	0	1	0	0	A	42266998	G	A	42266998	3	1	362	1	0	0	0	0	1	0	0	0	15198	1087	38	1	840	1	SREBF2	22	42266998	Missense_Mutation	SNP	G	TCGA-P5-A72U-01A-31D-A32B-08	20917981	42266998	9037568	60	32039											
MAGEB4	4115	broad.mit.edu	37	X	30261033	30261033	+	Missense_Mutation	SNP	C	C	A			TCGA-P5-A72U-01A-31D-A32B-08	TCGA-P5-A72U-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e273ac4f-af5a-4671-813b-ce86f784fcbe	393cccc0-b27d-4b08-889c-1d74b31f3ce7	g.chrX:30261033C>A	ENST00000378982.2	+	1	977	c.781C>A	c.(781-783)Ccc>Acc	p.P261T		NM_002367.3	NP_002358.1	O15481	MAGB4_HUMAN	melanoma antigen family B, 4	261	MAGE.									breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27						CCAGCAGGTGCCCAACAGTGA	0.493													9	54					0.0581538	0.0588544	1	1	0	A	30261033	C	A	30261033	3	1	362	1	0	0	0	0	1	0	0	0	9228	739	26	5	783	5	MAGEB4	23	30261033	Missense_Mutation	SNP	C	TCGA-P5-A72U-01A-31D-A32B-08		30261033	125009527	61	32040											
TAB3	257397	broad.mit.edu	37	X	30873304	30873304	+	Missense_Mutation	SNP	G	G	T			TCGA-P5-A72U-01A-31D-A32B-08	TCGA-P5-A72U-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e273ac4f-af5a-4671-813b-ce86f784fcbe	393cccc0-b27d-4b08-889c-1d74b31f3ce7	g.chrX:30873304G>T	ENST00000378933.1	-	3	655	c.478C>A	c.(478-480)Cca>Aca	p.P160T	TAB3_ENST00000378932.2_Missense_Mutation_p.P160T|TAB3_ENST00000288422.2_Missense_Mutation_p.P160T|TAB3_ENST00000378930.3_Missense_Mutation_p.P160T	NM_152787.3	NP_690000.2	Q8N5C8	TAB3_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 3	160	Pro-rich.				activation of MAPK activity|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|skin(1)	27						ATGGAAGATGGCTGTTGAGGT	0.478													33	114					2.47316e-13	2.73349e-13	1	1	0	T	30873304	G	T	30873304	3	4	362	1	0	0	0	0	1	0	0	0	15554	1203	42	5	1684	5	TAB3	23	30873304	Missense_Mutation	SNP	G	TCGA-P5-A72U-01A-31D-A32B-08	612271	30873304	124397256	62	32041											
HDX	139324	broad.mit.edu	37	X	83577004	83577004	+	Missense_Mutation	SNP	G	G	T			TCGA-P5-A72U-01A-31D-A32B-08	TCGA-P5-A72U-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e273ac4f-af5a-4671-813b-ce86f784fcbe	393cccc0-b27d-4b08-889c-1d74b31f3ce7	g.chrX:83577004G>T	ENST00000297977.5	-	10	2077	c.1966C>A	c.(1966-1968)Cct>Act	p.P656T	HDX_ENST00000506585.2_Missense_Mutation_p.P598T|HDX_ENST00000373177.2_Missense_Mutation_p.P656T	NM_001177479.1|NM_144657.4	NP_001170950.1|NP_653258.2	Q7Z353	HDX_HUMAN	highly divergent homeobox	656						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(12)|liver(1)|lung(19)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						AATTCAGGAGGTAAATCTGAC	0.343													8	16					0.000274275	0.000280965	1	1	0	T	83577004	G	T	83577004	3	4	362	1	0	0	0	0	1	0	0	0	7067	1261	44	5	110	5	HDX	23	83577004	Missense_Mutation	SNP	G	TCGA-P5-A72U-01A-31D-A32B-08	52703700	83577004	71693556	63	32042											
CSTF2	1478	broad.mit.edu	37	X	100075434	100075434	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A72U-01A-31D-A32B-08	TCGA-P5-A72U-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e273ac4f-af5a-4671-813b-ce86f784fcbe	393cccc0-b27d-4b08-889c-1d74b31f3ce7	g.chrX:100075434C>T	ENST00000415585.2	+	1	51	c.29C>T	c.(28-30)gCg>gTg	p.A10V	CSTF2_ENST00000372972.2_Missense_Mutation_p.A10V			P33240	CSTF2_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa	10					mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	cleavage body|mRNA cleavage and polyadenylation specificity factor complex	nucleotide binding|protein binding|RNA binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1)	13						AGAGACCCAGCGGTGGATCGT	0.567													11	41					0	0	1	0	0	T	100075434	C	T	100075434	3	4	362	1	0	0	0	0	1	0	0	0	4009	768	27	1	31	1	CSTF2	23	100075434	Missense_Mutation	SNP	C	TCGA-P5-A72U-01A-31D-A32B-08	16498430	100075434	55195126	64	32043											
GPRASP1	9737	broad.mit.edu	37	X	101911740	101911740	+	Missense_Mutation	SNP	G	G	T			TCGA-P5-A72U-01A-31D-A32B-08	TCGA-P5-A72U-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e273ac4f-af5a-4671-813b-ce86f784fcbe	393cccc0-b27d-4b08-889c-1d74b31f3ce7	g.chrX:101911740G>T	ENST00000537097.1	+	6	3712	c.2899G>T	c.(2899-2901)Gcc>Tcc	p.A967S	GPRASP1_ENST00000361600.5_Missense_Mutation_p.A967S|GPRASP1_ENST00000415986.1_Missense_Mutation_p.A967S|RP4-769N13.7_ENST00000602441.1_RNA|GPRASP1_ENST00000444152.1_Missense_Mutation_p.A967S	NM_001184727.1	NP_001171656.1	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting protein 1	967	Glu-rich.|OPRD1-binding.					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						TGAGGAAGGGGCCATTGTTGG	0.483													8	116					1.12685e-05	1.16859e-05	1	1	0	T	101911740	G	T	101911740	3	4	362	1	0	0	0	0	1	0	0	0	6763	1203	42	5	2901	5	GPRASP1	23	101911740	Missense_Mutation	SNP	G	TCGA-P5-A72U-01A-31D-A32B-08	1836306	101911740	53358820	65	32044											
PHGDH	26227	broad.mit.edu	37	1	120263899	120263899	+	Missense_Mutation	SNP	A	A	G			TCGA-P5-A72W-01A-11D-A32B-08	TCGA-P5-A72W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05432584-7c2a-4d75-8d0d-ead071120a4e	971c526c-a94b-4e27-a8c8-f009ef80fba4	g.chr1:120263899A>G	ENST00000369407.3	+	1	1650	c.143A>G	c.(142-144)aAt>aGt	p.N48S	PHGDH_ENST00000369409.4_Missense_Mutation_p.N82S			O43175	SERA_HUMAN	phosphoglycerate dehydrogenase	82					brain development|L-serine biosynthetic process		electron carrier activity|NAD binding|phosphoglycerate dehydrogenase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	18	all_cancers(5;1.18e-09)|all_epithelial(5;2.16e-10)|Melanoma(3;1.93e-05)|all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0347)		Lung(183;0.0111)|LUSC - Lung squamous cell carcinoma(189;0.0593)	NADH(DB00157)	GGTGTGGACAATGTGGATCTG	0.582													16	69					0	0	1	0	0	G	120263899	A	G	120263899	3	3	363	1	0	0	0	0	1	0	0	0	11889	101	4	3	251	3	PHGDH	1	120263899	Missense_Mutation	SNP	A	TCGA-P5-A72W-01A-11D-A32B-08		120263899	128986722	1	32045											
DENND4B	9909	broad.mit.edu	37	1	153912182	153912182	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A72W-01A-11D-A32B-08	TCGA-P5-A72W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05432584-7c2a-4d75-8d0d-ead071120a4e	971c526c-a94b-4e27-a8c8-f009ef80fba4	g.chr1:153912182C>T	ENST00000361217.4	-	12	2120	c.1702G>A	c.(1702-1704)Gga>Aga	p.G568R		NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	568	dDENN.									NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			AGGAAGGCTCCTTGGACTTCG	0.627													18	47					0	0	1	0	0	T	153912182	C	T	153912182	3	4	363	1	0	0	0	0	1	0	0	0	4462	690	24	2	2856	2	DENND4B	1	153912182	Missense_Mutation	SNP	C	TCGA-P5-A72W-01A-11D-A32B-08	33648283	153912182	95338439	2	32046											
OBSCN	84033	broad.mit.edu	37	1	228465550	228465550	+	Nonsense_Mutation	SNP	C	C	T			TCGA-P5-A72W-01A-11D-A32B-08	TCGA-P5-A72W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05432584-7c2a-4d75-8d0d-ead071120a4e	971c526c-a94b-4e27-a8c8-f009ef80fba4	g.chr1:228465550C>T	ENST00000570156.2	+	30	8211	c.8137C>T	c.(8137-8139)Cga>Tga	p.R2713*	OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000359599.6_Nonsense_Mutation_p.R1131*|OBSCN_ENST00000422127.1_Nonsense_Mutation_p.R2284*|OBSCN_ENST00000284548.11_Nonsense_Mutation_p.R2284*	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	1710	Ig-like 26.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				AGCCCAGCTCCGAGTGAAGGG	0.632													20	19					0	0	1	0	0	T	228465550	C	T	228465550	4	4	363	1	0	0	0	0	0	1	0	0	10860	644	23	1	6944	1	OBSCN	1	228465550	Nonsense_Mutation	SNP	C	TCGA-P5-A72W-01A-11D-A32B-08	74553368	228465550	20785071	3	32047											
TARBP1	6894	broad.mit.edu	37	1	234546220	234546220	+	Missense_Mutation	SNP	C	C	G			TCGA-P5-A72W-01A-11D-A32B-08	TCGA-P5-A72W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05432584-7c2a-4d75-8d0d-ead071120a4e	971c526c-a94b-4e27-a8c8-f009ef80fba4	g.chr1:234546220C>G	ENST00000040877.1	-	23	3762	c.3763G>C	c.(3763-3765)Gac>Cac	p.D1255H		NM_005646.3	NP_005637.3	Q13395	TARB1_HUMAN	TAR (HIV-1) RNA binding protein 1	1255					regulation of transcription from RNA polymerase II promoter|RNA processing	nucleus	RNA binding|RNA methyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)			GTAATAATGTCTAAATGTGAT	0.244													13	17					0	0	1	0	0	G	234546220	C	G	234546220	3	3	363	1	0	0	0	0	1	0	0	0	15612	913	32	4	1134	4	TARBP1	1	234546220	Missense_Mutation	SNP	C	TCGA-P5-A72W-01A-11D-A32B-08	6080670	234546220	14704401	4	32048											
OR2T6	254879	broad.mit.edu	37	1	248551088	248551088	+	Missense_Mutation	SNP	A	A	G			TCGA-P5-A72W-01A-11D-A32B-08	TCGA-P5-A72W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05432584-7c2a-4d75-8d0d-ead071120a4e	971c526c-a94b-4e27-a8c8-f009ef80fba4	g.chr1:248551088A>G	ENST00000355728.2	+	1	179	c.179A>G	c.(178-180)tAc>tGc	p.Y60C		NM_001005471.1	NP_001005471.1	Q8NHC8	OR2T6_HUMAN	olfactory receptor, family 2, subfamily T, member 6	60					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(5)|lung(38)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			ACCCCCATGTACTTCCTCCTC	0.483													10	39					0	0	1	0	0	G	248551088	A	G	248551088	3	3	363	1	0	0	0	0	1	0	0	0	11077	391	14	3	181	3	OR2T6	1	248551088	Missense_Mutation	SNP	A	TCGA-P5-A72W-01A-11D-A32B-08	14004868	248551088	699533	5	32049											
KCNJ3	3760	broad.mit.edu	37	2	155555776	155555776	+	Silent	SNP	C	C	G			TCGA-P5-A72W-01A-11D-A32B-08	TCGA-P5-A72W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05432584-7c2a-4d75-8d0d-ead071120a4e	971c526c-a94b-4e27-a8c8-f009ef80fba4	g.chr2:155555776C>G	ENST00000295101.2	+	1	966	c.489C>G	c.(487-489)ctC>ctG	p.L163L	KCNJ3_ENST00000544049.1_Silent_p.L163L	NM_001260509.1|NM_002239.3	NP_001247438.1|NP_002230.1	P48549	IRK3_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 3	163					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding	p.L163L(1)		breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	54					Halothane(DB01159)	TCCTCTTCCTCTTCCAGTCCA	0.572													22	24					0	0	1	0	0	G	155555776	C	G	155555776	2	3	363	1	0	0	0	0	0	0	0	1	8096	900	32	4		4	KCNJ3	2	155555776	Silent	SNP	C	TCGA-P5-A72W-01A-11D-A32B-08		155555776	87643597	6	32050											
TTN	7273	broad.mit.edu	37	2	179455517	179455517	+	Missense_Mutation	SNP	T	T	G			TCGA-P5-A72W-01A-11D-A32B-08	TCGA-P5-A72W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05432584-7c2a-4d75-8d0d-ead071120a4e	971c526c-a94b-4e27-a8c8-f009ef80fba4	g.chr2:179455517T>G	ENST00000589042.1	-	304	61159	c.60935A>C	c.(60934-60936)gAa>gCa	p.E20312A	TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E17744A|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E11247A|TTN_ENST00000342175.6_Missense_Mutation_p.E11439A|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E18671A|TTN_ENST00000359218.5_Missense_Mutation_p.E11372A	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	18671							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCCAGTTACTTCTCGACGTTC	0.438													36	42					0	0	1	0	0	G	179455517	T	G	179455517	3	3	363	1	0	0	0	0	1	0	0	0	16797	1783	62	5	47280	5	TTN	2	179455517	Missense_Mutation	SNP	T	TCGA-P5-A72W-01A-11D-A32B-08	23899741	179455517	63743856	7	32051											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-P5-A72W-01A-11D-A32B-08	TCGA-P5-A72W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05432584-7c2a-4d75-8d0d-ead071120a4e	971c526c-a94b-4e27-a8c8-f009ef80fba4	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								17	15					0	0	1	0	0	T	209113112	C	T	209113112	3	4	363	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-P5-A72W-01A-11D-A32B-08	29657595	209113112	34086261	8	32052											
GLB1L	79411	broad.mit.edu	37	2	220101997	220101997	+	Missense_Mutation	SNP	C	C	T	rs144432913		TCGA-P5-A72W-01A-11D-A32B-08	TCGA-P5-A72W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05432584-7c2a-4d75-8d0d-ead071120a4e	971c526c-a94b-4e27-a8c8-f009ef80fba4	g.chr2:220101997C>T	ENST00000295759.7	-	17	2075	c.1762G>A	c.(1762-1764)Gtg>Atg	p.V588M	GLB1L_ENST00000497855.1_5'UTR|GLB1L_ENST00000356283.3_Missense_Mutation_p.V498M|GLB1L_ENST00000392089.2_Missense_Mutation_p.V588M|GLB1L_ENST00000409640.1_Missense_Mutation_p.V498M			Q6UWU2	GLB1L_HUMAN	galactosidase, beta 1-like	588					carbohydrate metabolic process	extracellular region	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22		all_lung(227;1.19e-05)|Lung NSC(271;2.76e-05)|Medulloblastoma(418;0.0208)|Esophageal squamous(248;0.0559)		Epithelial(149;1.3e-11)|all cancers(144;2.07e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AATCTTGGCACGTAGAGGGTC	0.512													5	35					0	0	1	0	0	T	220101997	C	T	220101997	3	4	363	1	0	0	0	0	1	0	0	0	6470	536	19	1	206	1	GLB1L	2	220101997	Missense_Mutation	SNP	C	TCGA-P5-A72W-01A-11D-A32B-08	10988885	220101997	23097376	9	32053											
FANCD2	2177	broad.mit.edu	37	3	10136015	10136015	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A72W-01A-11D-A32B-08	TCGA-P5-A72W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05432584-7c2a-4d75-8d0d-ead071120a4e	971c526c-a94b-4e27-a8c8-f009ef80fba4	g.chr3:10136015C>T	ENST00000287647.3	+	40	4024	c.3931C>T	c.(3931-3933)Ccg>Tcg	p.P1311S	FANCD2_ENST00000419585.1_Missense_Mutation_p.P1311S|FANCD2OS_ENST00000524279.1_Intron|FANCD2_ENST00000383806.1_3'UTR|FANCD2OS_ENST00000436517.1_Intron|FANCD2_ENST00000383807.1_Missense_Mutation_p.P1311S	NM_033084.3	NP_149075.2	Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	1311					DNA repair|response to gamma radiation	nucleoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		GCAATGTATGCCGCTCCTAGA	0.458			"D, Mis, N, F"			"AML, leukemia"		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				4	250					0	0	1	0	0	T	10136015	C	T	10136015	3	4	363	1	0	0	0	0	1	0	0	0	5698	739	26	2	4085	2	FANCD2	3	10136015	Missense_Mutation	SNP	C	TCGA-P5-A72W-01A-11D-A32B-08		10136015	187886415	10	32054											
OSBPL10	114884	broad.mit.edu	37	3	31774775	31774775	+	Missense_Mutation	SNP	C	C	G			TCGA-P5-A72W-01A-11D-A32B-08	TCGA-P5-A72W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05432584-7c2a-4d75-8d0d-ead071120a4e	971c526c-a94b-4e27-a8c8-f009ef80fba4	g.chr3:31774775C>G	ENST00000396556.2	-	6	1191	c.1069G>C	c.(1069-1071)Gaa>Caa	p.E357Q	OSBPL10_ENST00000467647.1_5'UTR|OSBPL10_ENST00000438237.2_Missense_Mutation_p.E293Q	NM_017784.4	NP_060254.2	Q9BXB5	OSB10_HUMAN	oxysterol binding protein-like 10	357					lipid transport		lipid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	34				STAD - Stomach adenocarcinoma(1;0.00406)		GAGGTTTGTTCGTCTTCAGCA	0.453													18	60					0	0	1	0	0	G	31774775	C	G	31774775	3	3	363	1	0	0	0	0	1	0	0	0	11322	893	31	5	1253	5	OSBPL10	3	31774775	Missense_Mutation	SNP	C	TCGA-P5-A72W-01A-11D-A32B-08	21638760	31774775	166247655	11	32055											
SCAP	22937	broad.mit.edu	37	3	47455478	47455481	+	Frame_Shift_Del	DEL	CTGT	CTGT	-			TCGA-P5-A72W-01A-11D-A32B-08	TCGA-P5-A72W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05432584-7c2a-4d75-8d0d-ead071120a4e	971c526c-a94b-4e27-a8c8-f009ef80fba4	g.chr3:47455478_47455481delCTGT	ENST00000265565.5	-	23	4115_4118	c.3703_3706delACAG	c.(3703-3708)acagtcfs	p.TV1235fs	SCAP_ENST00000441517.2_Frame_Shift_Del_p.TV979fs|SCAP_ENST00000545718.1_Frame_Shift_Del_p.TV842fs	NM_012235.2	NP_036367.2	Q12770	SCAP_HUMAN	SREBF chaperone	1235	Interaction with SREBF2 (By similarity).				cholesterol metabolic process|negative regulation of cholesterol biosynthetic process|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of transcription via sterol regulatory element binding involved in ER-nuclear sterol response pathway	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane	unfolded protein binding			endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	26				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)		CCCAGGTAGACTGTCTGTAACAGG	0.583													8	210	---	---	---	---						-	47455481	CTGT	-	47455478	7	5	363	1	0	1	0	1	0	0	0	0	13930	565	20	0	137	0	SCAP	3	47455478	Frame_Shift_Del	DEL	CTGT	TCGA-P5-A72W-01A-11D-A32B-08	15680703	47455478	150566952	12	32056											
COL7A1	1294	broad.mit.edu	37	3	48618703	48618703	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A72W-01A-11D-A32B-08	TCGA-P5-A72W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05432584-7c2a-4d75-8d0d-ead071120a4e	971c526c-a94b-4e27-a8c8-f009ef80fba4	g.chr3:48618703C>T	ENST00000328333.8	-	51	4996	c.4889G>A	c.(4888-4890)cGa>cAa	p.R1630Q	COL7A1_ENST00000454817.1_Missense_Mutation_p.R1630Q	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	1630	Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		ATCTCGTCCTCGGGGGCCAAC	0.642													3	21					0	0	1	0	0	T	48618703	C	T	48618703	3	4	363	1	0	0	0	0	1	0	0	0	3727	884	31	1	4217	1	COL7A1	3	48618703	Missense_Mutation	SNP	C	TCGA-P5-A72W-01A-11D-A32B-08	1163225	48618703	149403727	13	32057											
FAT1	2195	broad.mit.edu	37	4	187530420	187530420	+	Missense_Mutation	SNP	T	T	G			TCGA-P5-A72W-01A-11D-A32B-08	TCGA-P5-A72W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05432584-7c2a-4d75-8d0d-ead071120a4e	971c526c-a94b-4e27-a8c8-f009ef80fba4	g.chr4:187530420T>G	ENST00000441802.2	-	16	10332	c.10123A>C	c.(10123-10125)Ata>Cta	p.I3375L		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	3375	Cadherin 31.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TTGCCATCTATAATTGAGTAG	0.488										HNSCC(5;0.00058)			11	13					0	0	1	0	0	G	187530420	T	G	187530420	3	3	363	1	0	0	0	0	1	0	0	0	5722	1406	49	4	3691	4	FAT1	4	187530420	Missense_Mutation	SNP	T	TCGA-P5-A72W-01A-11D-A32B-08		187530420	3623856	14	32058											
RAD50	10111	broad.mit.edu	37	5	131972886	131972886	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A72W-01A-11D-A32B-08	TCGA-P5-A72W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05432584-7c2a-4d75-8d0d-ead071120a4e	971c526c-a94b-4e27-a8c8-f009ef80fba4	g.chr5:131972886G>A	ENST00000378823.3	+	22	3870	c.3052G>A	c.(3052-3054)Gga>Aga	p.G1018R	RAD50_ENST00000265335.6_Missense_Mutation_p.G1157R|AC004041.2_ENST00000457489.1_RNA	NM_005732.3	NP_005723.2	Q92878	RAD50_HUMAN	RAD50 homolog (S. cerevisiae)	1157					DNA duplex unwinding|double-strand break repair via homologous recombination|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|telomere maintenance via telomerase	Mre11 complex|nuclear chromosome, telomeric region|nucleoplasm	ATP binding|DNA binding|nuclease activity|protein binding, bridging|zinc ion binding			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		all_cancers(142;0.0368)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TACCTATCGTGGACAAGGTGA	0.433								Homologous recombination					75	112					0	0	1	0	0	A	131972886	G	A	131972886	3	1	363	1	0	0	0	0	1	0	0	0	13036	1349	47	2	3555	2	RAD50	5	131972886	Missense_Mutation	SNP	G	TCGA-P5-A72W-01A-11D-A32B-08		131972886	48942374	15	32059											
ARHGAP18	93663	broad.mit.edu	37	6	129929056	129929056	+	Missense_Mutation	SNP	C	C	G			TCGA-P5-A72W-01A-11D-A32B-08	TCGA-P5-A72W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05432584-7c2a-4d75-8d0d-ead071120a4e	971c526c-a94b-4e27-a8c8-f009ef80fba4	g.chr6:129929056C>G	ENST00000368149.2	-	9	1352	c.1264G>C	c.(1264-1266)Gcc>Ccc	p.A422P		NM_033515.2	NP_277050.2	Q8N392	RHG18_HUMAN	Rho GTPase activating protein 18	422	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			NS(2)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(3)	18				OV - Ovarian serous cystadenocarcinoma(136;0.0621)|GBM - Glioblastoma multiforme(226;0.0638)|all cancers(137;0.074)		GCCTGAAAGGCTTTGAGATAC	0.468													24	17					0	0	1	0	0	G	129929056	C	G	129929056	3	3	363	1	0	0	0	0	1	0	0	0	865	797	28	4	755	4	ARHGAP18	6	129929056	Missense_Mutation	SNP	C	TCGA-P5-A72W-01A-11D-A32B-08		129929056	41186011	16	32060											
ANLN	54443	broad.mit.edu	37	7	36462334	36462334	+	Missense_Mutation	SNP	A	A	G			TCGA-P5-A72W-01A-11D-A32B-08	TCGA-P5-A72W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05432584-7c2a-4d75-8d0d-ead071120a4e	971c526c-a94b-4e27-a8c8-f009ef80fba4	g.chr7:36462334A>G	ENST00000265748.2	+	14	2613	c.2392A>G	c.(2392-2394)Atg>Gtg	p.M798V	ANLN_ENST00000396068.2_Missense_Mutation_p.M761V	NM_018685.2	NP_061155.2	Q9NQW6	ANLN_HUMAN	anillin, actin binding protein	798	Localization to the cleavage furrow.				cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly	actomyosin contractile ring|nucleus	actin binding			breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2)	45						AAGTGAATTTATGCCATCCAA	0.398													36	49					0	0	1	0	0	G	36462334	A	G	36462334	3	3	363	1	0	0	0	0	1	0	0	0	688	449	16	3	2446	3	ANLN	7	36462334	Missense_Mutation	SNP	A	TCGA-P5-A72W-01A-11D-A32B-08		36462334	122676329	17	32061											
RAMP3	10268	broad.mit.edu	37	7	45222877	45222877	+	Missense_Mutation	SNP	A	A	G			TCGA-P5-A72W-01A-11D-A32B-08	TCGA-P5-A72W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05432584-7c2a-4d75-8d0d-ead071120a4e	971c526c-a94b-4e27-a8c8-f009ef80fba4	g.chr7:45222877A>G	ENST00000242249.4	+	3	351	c.313A>G	c.(313-315)Acc>Gcc	p.T105A	RAMP3_ENST00000481345.1_Missense_Mutation_p.T105A|RAMP3_ENST00000496212.1_Missense_Mutation_p.T105A	NM_005856.2	NP_005847.1	O60896	RAMP3_HUMAN	receptor (G protein-coupled) activity modifying protein 3	105					intracellular protein transport|receptor-mediated endocytosis|regulation of G-protein coupled receptor protein signaling pathway	integral to plasma membrane|lysosome	protein transporter activity			breast(1)|endometrium(1)|large_intestine(4)|lung(4)|stomach(1)	11					Pramlintide(DB01278)	CTCCAACTGCACCGTGGACAG	0.622													39	50					0	0	1	0	0	G	45222877	A	G	45222877	3	3	363	1	0	0	0	0	1	0	0	0	13075	159	6	3	323	3	RAMP3	7	45222877	Missense_Mutation	SNP	A	TCGA-P5-A72W-01A-11D-A32B-08	8760543	45222877	113915786	18	32062											
KLHL38	340359	broad.mit.edu	37	8	124664297	124664297	+	Silent	SNP	G	G	A			TCGA-P5-A72W-01A-11D-A32B-08	TCGA-P5-A72W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05432584-7c2a-4d75-8d0d-ead071120a4e	971c526c-a94b-4e27-a8c8-f009ef80fba4	g.chr8:124664297G>A	ENST00000325995.7	-	1	893	c.870C>T	c.(868-870)ggC>ggT	p.G290G	CTD-2552K11.2_ENST00000524355.1_RNA	NM_001081675.2	NP_001075144.2	Q2WGJ6	KLH38_HUMAN	kelch-like family member 38	290										breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1)	38						CCTTCCTTCCGCCCAAGAGGA	0.547													75	41					0	0	1	0	0	A	124664297	G	A	124664297	2	1	363	1	0	0	0	0	0	0	0	1	8433	1074	38	1		1	KLHL38	8	124664297	Silent	SNP	G	TCGA-P5-A72W-01A-11D-A32B-08		124664297	21699725	19	32063											
PLEC	5339	broad.mit.edu	37	8	144995605	144995605	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A72W-01A-11D-A32B-08	TCGA-P5-A72W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05432584-7c2a-4d75-8d0d-ead071120a4e	971c526c-a94b-4e27-a8c8-f009ef80fba4	g.chr8:144995605C>T	ENST00000322810.4	-	32	8964	c.8795G>A	c.(8794-8796)gGc>gAc	p.G2932D	PLEC_ENST00000345136.3_Missense_Mutation_p.G2795D|PLEC_ENST00000436759.2_Missense_Mutation_p.G2822D|PLEC_ENST00000398774.2_Missense_Mutation_p.G2763D|PLEC_ENST00000354958.2_Missense_Mutation_p.G2773D|PLEC_ENST00000354589.3_Missense_Mutation_p.G2795D|PLEC_ENST00000357649.2_Missense_Mutation_p.G2799D|PLEC_ENST00000527096.1_Missense_Mutation_p.G2818D|PLEC_ENST00000356346.3_Missense_Mutation_p.G2781D	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2932	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GACGATGAGGCCCTTCTGCAT	0.672													4	78					0	0	1	0	0	T	144995605	C	T	144995605	3	4	363	1	0	0	0	0	1	0	0	0	12100	739	26	2	5263	2	PLEC	8	144995605	Missense_Mutation	SNP	C	TCGA-P5-A72W-01A-11D-A32B-08	20331308	144995605	1368417	20	32064											
PTER	9317	broad.mit.edu	37	10	16526678	16526678	+	Missense_Mutation	SNP	A	A	G			TCGA-P5-A72W-01A-11D-A32B-08	TCGA-P5-A72W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05432584-7c2a-4d75-8d0d-ead071120a4e	971c526c-a94b-4e27-a8c8-f009ef80fba4	g.chr10:16526678A>G	ENST00000378000.1	+	3	541	c.295A>G	c.(295-297)Aca>Gca	p.T99A	PTER_ENST00000423462.2_Missense_Mutation_p.T99A|PTER_ENST00000535784.2_Missense_Mutation_p.T99A|PTER_ENST00000298942.3_Missense_Mutation_p.T99A	NM_001001484.2|NM_001261838.1|NM_030664.4	NP_001001484.1|NP_001248767.1|NP_109589.2	Q96BW5	PTER_HUMAN	phosphotriesterase related	99					catabolic process		hydrolase activity, acting on ester bonds|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)	15						GGTGGAAAACACAACCACTGG	0.443													23	32					0	0	1	0	0	G	16526678	A	G	16526678	3	3	363	1	0	0	0	0	1	0	0	0	12788	159	6	3	297	3	PTER	10	16526678	Missense_Mutation	SNP	A	TCGA-P5-A72W-01A-11D-A32B-08		16526678	119008069	21	32065											
CDH23	64072	broad.mit.edu	37	10	73450310	73450310	+	Silent	SNP	C	C	T			TCGA-P5-A72W-01A-11D-A32B-08	TCGA-P5-A72W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05432584-7c2a-4d75-8d0d-ead071120a4e	971c526c-a94b-4e27-a8c8-f009ef80fba4	g.chr10:73450310C>T	ENST00000224721.6	+	19	2165	c.2160C>T	c.(2158-2160)ggC>ggT	p.G720G	CDH23_ENST00000299366.7_Silent_p.G760G	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	715	Cadherin 7.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						CCTTGGAAGGCTCCACCCAGT	0.622													2	1					0	0	1	0	0	T	73450310	C	T	73450310	2	4	363	1	0	0	0	0	0	0	0	1	3130	784	28	2		2	CDH23	10	73450310	Silent	SNP	C	TCGA-P5-A72W-01A-11D-A32B-08	56923632	73450310	62084437	22	32066											
ENTPD1	953	broad.mit.edu	37	10	97605280	97605280	+	Missense_Mutation	SNP	A	A	G			TCGA-P5-A72W-01A-11D-A32B-08	TCGA-P5-A72W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05432584-7c2a-4d75-8d0d-ead071120a4e	971c526c-a94b-4e27-a8c8-f009ef80fba4	g.chr10:97605280A>G	ENST00000371203.5	+	5	913	c.326A>G	c.(325-327)aAt>aGt	p.N109S	ENTPD1_ENST00000539125.1_Missense_Mutation_p.N109S|RP11-429G19.3_ENST00000433113.1_RNA|ENTPD1-AS1_ENST00000416301.1_RNA|ENTPD1_ENST00000371205.4_Missense_Mutation_p.N247S|ENTPD1_ENST00000453258.2_Missense_Mutation_p.N254S|ENTPD1_ENST00000543964.1_Missense_Mutation_p.N139S|ENTPD1_ENST00000371207.3_Missense_Mutation_p.N259S	NM_001164179.1|NM_001164182.1|NM_001776.5	NP_001157651.1|NP_001157654.1|NP_001767.3	P49961	ENTP1_HUMAN	ectonucleoside triphosphate diphosphohydrolase 1	247					cell adhesion	integral to plasma membrane	ATP binding			cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|skin(1)	16		Colorectal(252;0.0821)		Epithelial(162;1.31e-07)|all cancers(201;5.33e-06)		AAGGACTACAATGTCTACACA	0.488													39	44					0	0	1	0	0	G	97605280	A	G	97605280	3	3	363	1	0	0	0	0	1	0	0	0	5166	101	4	3	859	3	ENTPD1	10	97605280	Missense_Mutation	SNP	A	TCGA-P5-A72W-01A-11D-A32B-08	24154970	97605280	37929467	23	32067											
MUC5B	727897	broad.mit.edu	37	11	1272726	1272726	+	Silent	SNP	A	A	T			TCGA-P5-A72W-01A-11D-A32B-08	TCGA-P5-A72W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05432584-7c2a-4d75-8d0d-ead071120a4e	971c526c-a94b-4e27-a8c8-f009ef80fba4	g.chr11:1272726A>T	ENST00000447027.1	+	31	14683	c.14625A>T	c.(14623-14625)ggA>ggT	p.G4875G	MUC5B_ENST00000529681.1_Silent_p.G4872G			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4872	23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CCACTCTGGGAACAGCTCACA	0.662													25	26					0	0	1	0	0	T	1272726	A	T	1272726	2	4	363	1	0	0	0	0	0	0	0	1	10027	233	9	5		5	MUC5B	11	1272726	Silent	SNP	A	TCGA-P5-A72W-01A-11D-A32B-08		1272726	133733790	24	32068											
LUZP2	338645	broad.mit.edu	37	11	24753686	24753686	+	Missense_Mutation	SNP	C	C	G			TCGA-P5-A72W-01A-11D-A32B-08	TCGA-P5-A72W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05432584-7c2a-4d75-8d0d-ead071120a4e	971c526c-a94b-4e27-a8c8-f009ef80fba4	g.chr11:24753686C>G	ENST00000336930.6	+	3	269	c.203C>G	c.(202-204)tCt>tGt	p.S68C	LUZP2_ENST00000533227.1_5'UTR|LUZP2_ENST00000531187.1_3'UTR			Q86TE4	LUZP2_HUMAN	leucine zipper protein 2	68						extracellular region				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(11)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	32						GATGAGCAGTCTGCCAAAACT	0.338													6	10					0	0	1	0	0	G	24753686	C	G	24753686	3	3	363	1	0	0	0	0	1	0	0	0	9132	913	32	4	213	4	LUZP2	11	24753686	Missense_Mutation	SNP	C	TCGA-P5-A72W-01A-11D-A32B-08	23480960	24753686	110252830	25	32069											
OR4P4	81300	broad.mit.edu	37	11	55406056	55406056	+	Missense_Mutation	SNP	G	G	T			TCGA-P5-A72W-01A-11D-A32B-08	TCGA-P5-A72W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05432584-7c2a-4d75-8d0d-ead071120a4e	971c526c-a94b-4e27-a8c8-f009ef80fba4	g.chr11:55406056G>T	ENST00000314612.2	+	1	223	c.223G>T	c.(223-225)Gtg>Ttg	p.V75L		NM_001004124.1	NP_001004124.1	Q8NGL7	OR4P4_HUMAN	olfactory receptor, family 4, subfamily P, member 4	75					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1)	40						CACATCCACAGTGACCCCCAA	0.408													52	71					6.3008e-33	6.68657e-33	1	1	0	T	55406056	G	T	55406056	3	4	363	1	0	0	0	0	1	0	0	0	11128	1029	36	4	225	4	OR4P4	11	55406056	Missense_Mutation	SNP	G	TCGA-P5-A72W-01A-11D-A32B-08	30652370	55406056	79600460	26	32070											
SLC43A3	29015	broad.mit.edu	37	11	57193592	57193592	+	Silent	SNP	C	C	T			TCGA-P5-A72W-01A-11D-A32B-08	TCGA-P5-A72W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05432584-7c2a-4d75-8d0d-ead071120a4e	971c526c-a94b-4e27-a8c8-f009ef80fba4	g.chr11:57193592C>T	ENST00000395123.2	-	3	358	c.54G>A	c.(52-54)ctG>ctA	p.L18L	SLC43A3_ENST00000528098.1_5'UTR|SLC43A3_ENST00000352187.1_Silent_p.L18L|SLC43A3_ENST00000395124.1_Silent_p.L18L|SLC43A3_ENST00000533524.1_Silent_p.L18L|SLC43A3_ENST00000529554.1_Silent_p.L18L	NM_001278201.1|NM_014096.2	NP_001265130.1|NP_054815.2	Q8NBI5	S43A3_HUMAN	solute carrier family 43, member 3	18					transmembrane transport	integral to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	27						CCAGGCATTCCAGCAGCCCAG	0.552													12	88					0	0	1	0	0	T	57193592	C	T	57193592	2	4	363	1	0	0	0	0	0	0	0	1	14689	581	21	2		2	SLC43A3	11	57193592	Silent	SNP	C	TCGA-P5-A72W-01A-11D-A32B-08	1787536	57193592	77812924	27	32071											
SSSCA1	10534	broad.mit.edu	37	11	65338967	65338967	+	Missense_Mutation	SNP	G	G	C			TCGA-P5-A72W-01A-11D-A32B-08	TCGA-P5-A72W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05432584-7c2a-4d75-8d0d-ead071120a4e	971c526c-a94b-4e27-a8c8-f009ef80fba4	g.chr11:65338967G>C	ENST00000531405.1	+	3	487	c.251G>C	c.(250-252)cGt>cCt	p.R84P	SSSCA1_ENST00000526877.1_3'UTR|SSSCA1_ENST00000309328.3_Missense_Mutation_p.R121P|SSSCA1_ENST00000527920.1_Intron			O60232	SSA27_HUMAN	Sjogren syndrome/scleroderma autoantigen 1	121					cell division|mitosis		protein binding			kidney(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	8						CCAGTACCTCGTCCGGAGCAC	0.662													7	86					0	0	1	0	0	C	65338967	G	C	65338967	3	2	363	1	0	0	0	0	1	0	0	0	15251	1145	40	5	376	5	SSSCA1	11	65338967	Missense_Mutation	SNP	G	TCGA-P5-A72W-01A-11D-A32B-08	8145375	65338967	69667549	28	32072											
XRRA1	143570	broad.mit.edu	37	11	74618234	74618235	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-P5-A72W-01A-11D-A32B-08	TCGA-P5-A72W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05432584-7c2a-4d75-8d0d-ead071120a4e	971c526c-a94b-4e27-a8c8-f009ef80fba4	g.chr11:74618234_74618235delTC	ENST00000340360.6	-	9	1047_1048	c.716_717delGA	c.(715-717)agafs	p.R239fs	RP11-147I3.1_ENST00000533875.1_RNA|XRRA1_ENST00000321448.8_Frame_Shift_Del_p.R6fs|XRRA1_ENST00000527087.1_Frame_Shift_Del_p.R239fs	NM_182969.2	NP_892014.1	Q6P2D8	XRRA1_HUMAN	X-ray radiation resistance associated 1	239					response to X-ray	cytoplasm|nucleus				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(3)	20						GGTTGGAGAGTCTGTTGTCATC	0.55													38	78	---	---	---	---						-	74618235	TC	-	74618234	7	5	363	1	0	1	0	1	0	0	0	0	17521	1664	58	0	1705	0	XRRA1	11	74618234	Frame_Shift_Del	DEL	TC	TCGA-P5-A72W-01A-11D-A32B-08	9279267	74618234	60388282	29	32073											
RNF26	79102	broad.mit.edu	37	11	119206053	119206053	+	Missense_Mutation	SNP	G	G	T			TCGA-P5-A72W-01A-11D-A32B-08	TCGA-P5-A72W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05432584-7c2a-4d75-8d0d-ead071120a4e	971c526c-a94b-4e27-a8c8-f009ef80fba4	g.chr11:119206053G>T	ENST00000311413.4	+	1	817	c.221G>T	c.(220-222)cGg>cTg	p.R74L		NM_032015.4	NP_114404.1	Q9BY78	RNF26_HUMAN	ring finger protein 26	74	Leu-rich.						zinc ion binding			cervix(1)|endometrium(1)|kidney(1)|lung(7)|ovary(1)|prostate(1)	12		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.8e-05)		GCCGTGGTCCGGTTCACATGT	0.587													41	110					7.63091e-17	7.93615e-17	1	1	0	T	119206053	G	T	119206053	3	4	363	1	0	0	0	0	1	0	0	0	13538	1116	39	5	223	5	RNF26	11	119206053	Missense_Mutation	SNP	G	TCGA-P5-A72W-01A-11D-A32B-08	44587819	119206053	15800463	30	32074											
CLEC4D	338339	broad.mit.edu	37	12	8673742	8673742	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A72W-01A-11D-A32B-08	TCGA-P5-A72W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05432584-7c2a-4d75-8d0d-ead071120a4e	971c526c-a94b-4e27-a8c8-f009ef80fba4	g.chr12:8673742G>A	ENST00000299665.2	+	6	716	c.523G>A	c.(523-525)Gac>Aac	p.D175N		NM_080387.4	NP_525126.2	Q8WXI8	CLC4D_HUMAN	C-type lectin domain family 4, member D	175	C-type lectin.				innate immune response	integral to membrane	sugar binding			large_intestine(4)|lung(6)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Lung SC(5;0.184)					GAATGAACCCGACAACTCTCA	0.338													19	22					0	0	1	0	0	A	8673742	G	A	8673742	3	1	363	1	0	0	0	0	1	0	0	0	3537	1058	37	1	545	1	CLEC4D	12	8673742	Missense_Mutation	SNP	G	TCGA-P5-A72W-01A-11D-A32B-08		8673742	125178153	31	32075											
PLCZ1	89869	broad.mit.edu	37	12	18847986	18847986	+	Missense_Mutation	SNP	A	A	T			TCGA-P5-A72W-01A-11D-A32B-08	TCGA-P5-A72W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05432584-7c2a-4d75-8d0d-ead071120a4e	971c526c-a94b-4e27-a8c8-f009ef80fba4	g.chr12:18847986A>T	ENST00000266505.7	-	12	1582	c.1319T>A	c.(1318-1320)cTg>cAg	p.L440Q	PLCZ1_ENST00000539875.1_Missense_Mutation_p.L247Q|PLCZ1_ENST00000541695.1_Missense_Mutation_p.L303Q|PLCZ1_ENST00000447925.2_Missense_Mutation_p.L438Q|PLCZ1_ENST00000435379.1_Missense_Mutation_p.L245Q|PLCZ1_ENST00000538330.1_Missense_Mutation_p.L222Q			Q86YW0	PLCZ1_HUMAN	phospholipase C, zeta 1	440	PI-PLC Y-box.				intracellular signal transduction|lipid catabolic process|multicellular organismal development	nucleus|perinuclear region of cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)					ATCCATGGGCAGACCAGGGGT	0.353													19	51					0	0	1	0	0	T	18847986	A	T	18847986	3	4	363	1	0	0	0	0	1	0	0	0	12092	188	7	5	523	5	PLCZ1	12	18847986	Missense_Mutation	SNP	A	TCGA-P5-A72W-01A-11D-A32B-08	10174244	18847986	115003909	32	32076											
LRP1	4035	broad.mit.edu	37	12	57586737	57586737	+	Missense_Mutation	SNP	T	T	A			TCGA-P5-A72W-01A-11D-A32B-08	TCGA-P5-A72W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05432584-7c2a-4d75-8d0d-ead071120a4e	971c526c-a94b-4e27-a8c8-f009ef80fba4	g.chr12:57586737T>A	ENST00000243077.3	+	45	8005	c.7539T>A	c.(7537-7539)gaT>gaA	p.D2513E		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	2513	EGF-like 10.				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	TCCTCCAGGATGACCTCACCT	0.642													14	34					0	0	1	0	0	A	57586737	T	A	57586737	3	1	363	1	0	0	0	0	1	0	0	0	8996	1461	51	4	7717	4	LRP1	12	57586737	Missense_Mutation	SNP	T	TCGA-P5-A72W-01A-11D-A32B-08	38738751	57586737	76265158	33	32077											
HNRNPC	3183	broad.mit.edu	37	14	21702141	21702141	+	Missense_Mutation	SNP	T	T	A			TCGA-P5-A72W-01A-11D-A32B-08	TCGA-P5-A72W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05432584-7c2a-4d75-8d0d-ead071120a4e	971c526c-a94b-4e27-a8c8-f009ef80fba4	g.chr14:21702141T>A	ENST00000430246.2	-	2	3163	c.212A>T	c.(211-213)gAt>gTt	p.D71V	HNRNPC_ENST00000556513.1_Missense_Mutation_p.D71V|HNRNPC_ENST00000554969.1_Missense_Mutation_p.D71V|HNRNPC_ENST00000553300.1_Missense_Mutation_p.D71V|HNRNPC_ENST00000557201.1_Missense_Mutation_p.D71V|HNRNPC_ENST00000553753.1_Missense_Mutation_p.D71V|HNRNPC_ENST00000556628.1_Intron|HNRNPC_ENST00000556142.1_Missense_Mutation_p.D71V|HNRNPC_ENST00000320084.7_Missense_Mutation_p.D71V|HNRNPC_ENST00000556897.1_Missense_Mutation_p.D71V|HNRNPC_ENST00000555883.1_Missense_Mutation_p.D71V|HNRNPC_ENST00000554455.1_Missense_Mutation_p.D71V|HNRNPC_ENST00000449098.1_Missense_Mutation_p.D71V|HNRNPC_ENST00000420743.2_Missense_Mutation_p.D71V|HNRNPC_ENST00000336053.6_Missense_Mutation_p.D71V|HNRNPC_ENST00000555914.1_Missense_Mutation_p.D71V|HNRNPC_ENST00000555309.1_Missense_Mutation_p.D71V			P07910	HNRPC_HUMAN	heterogeneous nuclear ribonucleoprotein C (C1/C2)	71	RRM.					catalytic step 2 spliceosome|nucleoplasm	identical protein binding|nucleotide binding|RNA binding			breast(1)|liver(1)|lung(6)|skin(1)	9	all_cancers(95;0.00176)		Epithelial(56;1.08e-06)|all cancers(55;8.95e-06)	GBM - Glioblastoma multiforme(265;0.00783)		CATTCTGCCATCCTCTCCTGC	0.413													39	42					0	0	1	0	0	A	21702141	T	A	21702141	3	1	363	1	0	0	0	0	1	0	0	0	7303	1435	50	4	736	4	HNRNPC	14	21702141	Missense_Mutation	SNP	T	TCGA-P5-A72W-01A-11D-A32B-08		21702141	85647399	34	32078											
ATP10A	57194	broad.mit.edu	37	15	25932867	25932867	+	Missense_Mutation	SNP	A	A	G			TCGA-P5-A72W-01A-11D-A32B-08	TCGA-P5-A72W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05432584-7c2a-4d75-8d0d-ead071120a4e	971c526c-a94b-4e27-a8c8-f009ef80fba4	g.chr15:25932867A>G	ENST00000356865.6	-	16	3385	c.3274T>C	c.(3274-3276)Ttc>Ctc	p.F1092L		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	1092					ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		TTGTAGAAGAAGTACAGCACC	0.498													29	56					0	0	1	0	0	G	25932867	A	G	25932867	3	3	363	1	0	0	0	0	1	0	0	0	1115	72	3	3	1249	3	ATP10A	15	25932867	Missense_Mutation	SNP	A	TCGA-P5-A72W-01A-11D-A32B-08		25932867	76598525	35	32079											
DPEP3	64180	broad.mit.edu	37	16	68010039	68010039	+	Missense_Mutation	SNP	A	A	G			TCGA-P5-A72W-01A-11D-A32B-08	TCGA-P5-A72W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05432584-7c2a-4d75-8d0d-ead071120a4e	971c526c-a94b-4e27-a8c8-f009ef80fba4	g.chr16:68010039A>G	ENST00000268793.4	-	9	1635	c.1262T>C	c.(1261-1263)gTc>gCc	p.V421A		NM_001129758.1|NM_022357.3	NP_001123230.1|NP_071752.3	Q9H4B8	DPEP3_HUMAN	dipeptidase 3	396					meiosis	anchored to membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity			breast(4)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)	20		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0117)|Epithelial(162;0.0481)|all cancers(182;0.236)		TCCACGAAGGACACCTTGAAG	0.557													50	89					0	0	1	0	0	G	68010039	A	G	68010039	3	3	363	1	0	0	0	0	1	0	0	0	4742	275	10	3	287	3	DPEP3	16	68010039	Missense_Mutation	SNP	A	TCGA-P5-A72W-01A-11D-A32B-08		68010039	22344714	36	32080											
TP53	7157	broad.mit.edu	37	17	7577568	7577568	+	Missense_Mutation	SNP	C	C	A			TCGA-P5-A72W-01A-11D-A32B-08	TCGA-P5-A72W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05432584-7c2a-4d75-8d0d-ead071120a4e	971c526c-a94b-4e27-a8c8-f009ef80fba4	g.chr17:7577568C>A	ENST00000420246.2	-	7	845	c.713G>T	c.(712-714)tGt>tTt	p.C238F	TP53_ENST00000269305.4_Missense_Mutation_p.C238F|TP53_ENST00000455263.2_Missense_Mutation_p.C238F|TP53_ENST00000445888.2_Missense_Mutation_p.C238F|TP53_ENST00000359597.4_Missense_Mutation_p.C238F|TP53_ENST00000413465.2_Missense_Mutation_p.C238F	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	238	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).		C -> F (in sporadic cancers; somatic mutation).|C -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|C -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.C238Y(65)|p.C238F(46)|p.C238S(9)|p.0?(8)|p.?(5)|p.C145F(5)|p.C145Y(5)|p.M237_N239delMCN(4)|p.C238fs*21(1)|p.M237fs*1(1)|p.M144_N146delMCN(1)|p.C238del(1)|p.Y236_M243delYMCNSSCM(1)|p.V225fs*23(1)|p.H233fs*6(1)|p.C238_M246delCNSSCMGGM(1)|p.H233_C242del10(1)|p.N239_C242del(1)|p.C145S(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)		GGAACTGTTACACATGTAGTT	0.572		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)			20	3					5.26018e-13	5.36332e-13	1	1	0	A	7577568	C	A	7577568	3	1	363	1	0	0	0	0	1	0	0	0	16442	478	17	5	577	5	TP53	17	7577568	Missense_Mutation	SNP	C	TCGA-P5-A72W-01A-11D-A32B-08		7577568	73617642	37	32081											
APOE	348	broad.mit.edu	37	19	45411116	45411116	+	Missense_Mutation	SNP	T	T	G			TCGA-P5-A72W-01A-11D-A32B-08	TCGA-P5-A72W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05432584-7c2a-4d75-8d0d-ead071120a4e	971c526c-a94b-4e27-a8c8-f009ef80fba4	g.chr19:45411116T>G	ENST00000252486.4	+	3	254	c.143T>G	c.(142-144)cTg>cGg	p.L48R		NM_000041.2	NP_000032.1	P02649	APOE_HUMAN	apolipoprotein E	48					anti-apoptosis|Cdc42 protein signal transduction|cell death|cGMP-mediated signaling|cholesterol efflux|cholesterol homeostasis|chylomicron remnant clearance|cytoskeleton organization|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|high-density lipoprotein particle clearance|high-density lipoprotein particle remodeling|induction of apoptosis|intracellular transport|negative regulation of blood vessel endothelial cell migration|negative regulation of cholesterol biosynthetic process|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of platelet activation|nitric oxide mediated signal transduction|phospholipid efflux|positive regulation of cGMP biosynthetic process|positive regulation of cholesterol efflux|positive regulation of cholesterol esterification|positive regulation of low-density lipoprotein particle receptor catabolic process|positive regulation of membrane protein ectodomain proteolysis|positive regulation of nitric-oxide synthase activity|receptor-mediated endocytosis|regulation of axon extension|regulation of neuronal synaptic plasticity|response to reactive oxygen species|reverse cholesterol transport|synaptic transmission, cholinergic|triglyceride metabolic process|very-low-density lipoprotein particle clearance|very-low-density lipoprotein particle remodeling	chylomicron|dendrite|high-density lipoprotein particle|intermediate-density lipoprotein particle|low-density lipoprotein particle|neuronal cell body|very-low-density lipoprotein particle	antioxidant activity|beta-amyloid binding|heparin binding|low-density lipoprotein particle receptor binding|metal chelating activity|phosphatidylcholine-sterol O-acyltransferase activator activity|phospholipid binding|protein heterodimerization activity|protein homodimerization activity|tau protein binding|very-low-density lipoprotein particle receptor binding			large_intestine(1)|lung(2)|prostate(1)	4	Lung NSC(12;0.0018)|all_lung(12;0.00481)	Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00327)|Epithelial(262;0.174)	Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)	GAACTGGCACTGGGTCGCTTT	0.652													11	16					0	0	1	0	0	G	45411116	T	G	45411116	3	3	363	1	0	0	0	0	1	0	0	0	799	1580	55	5	149	5	APOE	19	45411116	Missense_Mutation	SNP	T	TCGA-P5-A72W-01A-11D-A32B-08		45411116	13717867	38	32082											
PLCB4	5332	broad.mit.edu	37	20	9400537	9400537	+	Missense_Mutation	SNP	C	C	G			TCGA-P5-A72W-01A-11D-A32B-08	TCGA-P5-A72W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05432584-7c2a-4d75-8d0d-ead071120a4e	971c526c-a94b-4e27-a8c8-f009ef80fba4	g.chr20:9400537C>G	ENST00000378501.2	+	22	2114	c.2099C>G	c.(2098-2100)gCa>gGa	p.A700G	PLCB4_ENST00000414679.2_Missense_Mutation_p.A712G|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000378493.1_Missense_Mutation_p.A700G|PLCB4_ENST00000378473.3_Missense_Mutation_p.A712G|PLCB4_ENST00000278655.4_Missense_Mutation_p.A700G|PLCB4_ENST00000334005.3_Missense_Mutation_p.A700G	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN	phospholipase C, beta 4	700	C2.				intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						GGTGTTATTGCAGCCACTTGC	0.423													13	61					0	0	1	0	0	G	9400537	C	G	9400537	3	3	363	1	0	0	0	0	1	0	0	0	12078	710	25	5	2225	5	PLCB4	20	9400537	Missense_Mutation	SNP	C	TCGA-P5-A72W-01A-11D-A32B-08		9400537	53624983	39	32083											
PROCR	10544	broad.mit.edu	37	20	33762688	33762688	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A72W-01A-11D-A32B-08	TCGA-P5-A72W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05432584-7c2a-4d75-8d0d-ead071120a4e	971c526c-a94b-4e27-a8c8-f009ef80fba4	g.chr20:33762688G>A	ENST00000216968.4	+	2	336	c.254G>A	c.(253-255)gGc>gAc	p.G85D	EDEM2_ENST00000540582.1_Intron	NM_006404.3	NP_006395.2	Q9UNN8	EPCR_HUMAN	protein C receptor, endothelial	85					antigen processing and presentation|blood coagulation|immune response	integral to plasma membrane|MHC class I protein complex	receptor activity			breast(1)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	10			BRCA - Breast invasive adenocarcinoma(18;0.0152)		Drotrecogin alfa(DB00055)	ACGCAGAGTGGCCTGCAGTCC	0.677													14	13					0	0	1	0	0	A	33762688	G	A	33762688	3	1	363	1	0	0	0	0	1	0	0	0	12599	1203	42	2	260	2	PROCR	20	33762688	Missense_Mutation	SNP	G	TCGA-P5-A72W-01A-11D-A32B-08	24362151	33762688	29262832	40	32084											
ZNF831	128611	broad.mit.edu	37	20	57768516	57768516	+	Silent	SNP	G	G	A			TCGA-P5-A72W-01A-11D-A32B-08	TCGA-P5-A72W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05432584-7c2a-4d75-8d0d-ead071120a4e	971c526c-a94b-4e27-a8c8-f009ef80fba4	g.chr20:57768516G>A	ENST00000371030.2	+	1	2442	c.2442G>A	c.(2440-2442)ggG>ggA	p.G814G		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	814						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					GGGGCTCAGGGGAGGACAAGC	0.642													4	30					0	0	1	0	0	A	57768516	G	A	57768516	2	1	363	1	0	0	0	0	0	0	0	1	18232	1219	43	2		2	ZNF831	20	57768516	Silent	SNP	G	TCGA-P5-A72W-01A-11D-A32B-08	24005828	57768516	5257004	41	32085											
DEPDC5	9681	broad.mit.edu	37	22	32266690	32266690	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A72W-01A-11D-A32B-08	TCGA-P5-A72W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05432584-7c2a-4d75-8d0d-ead071120a4e	971c526c-a94b-4e27-a8c8-f009ef80fba4	g.chr22:32266690G>A	ENST00000400246.1	+	34	3587	c.3445G>A	c.(3445-3447)Gga>Aga	p.G1149R	DEPDC5_ENST00000400248.2_Missense_Mutation_p.G1118R|DEPDC5_ENST00000266091.3_Missense_Mutation_p.G1127R|DEPDC5_ENST00000382105.2_Missense_Mutation_p.G1071R|DEPDC5_ENST00000494060.1_3'UTR|DEPDC5_ENST00000400249.2_Missense_Mutation_p.G1118R|DEPDC5_ENST00000382111.2_Missense_Mutation_p.G1149R|DEPDC5_ENST00000382112.3_Missense_Mutation_p.G1140R|DEPDC5_ENST00000535622.1_Missense_Mutation_p.G1049R|DEPDC5_ENST00000539165.1_5'UTR			O75140	DEPD5_HUMAN	DEP domain containing 5	1118					intracellular signal transduction					breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						CCAGAACATAGGAGAACAGGG	0.532													10	28					0	0	1	0	0	A	32266690	G	A	32266690	3	1	363	1	0	0	0	0	1	0	0	0	4470	1001	35	2	3566	2	DEPDC5	22	32266690	Missense_Mutation	SNP	G	TCGA-P5-A72W-01A-11D-A32B-08		32266690	19037876	42	32086											
PICK1	9463	broad.mit.edu	37	22	38455269	38455269	+	Frame_Shift_Del	DEL	A	A	-			TCGA-P5-A72W-01A-11D-A32B-08	TCGA-P5-A72W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05432584-7c2a-4d75-8d0d-ead071120a4e	971c526c-a94b-4e27-a8c8-f009ef80fba4	g.chr22:38455269delA	ENST00000404072.3	+	3	417	c.70delA	c.(70-72)accfs	p.T24fs	RP5-1039K5.13_ENST00000445483.1_RNA|PICK1_ENST00000468288.1_3'UTR|PICK1_ENST00000356976.3_Frame_Shift_Del_p.T24fs	NM_001039583.1|NM_001039584.1	NP_001034672.1|NP_001034673.1	Q9NRD5	PICK1_HUMAN	protein interacting with PRKCA 1	24	PDZ.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|DNA methylation involved in embryo development|DNA methylation involved in gamete generation|monoamine transport|neuronal ion channel clustering|protein phosphorylation|receptor clustering|retrograde vesicle-mediated transport, Golgi to ER|synaptic transmission	cell junction|endocytic vesicle membrane|Golgi apparatus|perinuclear region of cytoplasm|presynaptic membrane	ATPase activity|metal ion binding|protein C-terminus binding|protein kinase C binding|receptor binding			cervix(1)|endometrium(3)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13	Melanoma(58;0.045)					TGGGAAGGTGACCCTGCAGAA	0.567													2	4	---	---	---	---						-	38455269	A	-	38455269	7	5	363	1	0	1	0	1	0	0	0	0	11929	275	10	0	76	0	PICK1	22	38455269	Frame_Shift_Del	DEL	A	TCGA-P5-A72W-01A-11D-A32B-08	6188579	38455269	12849297	43	32087											
ATRX	546	broad.mit.edu	37	X	76890125	76890125	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A72W-01A-11D-A32B-08	TCGA-P5-A72W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05432584-7c2a-4d75-8d0d-ead071120a4e	971c526c-a94b-4e27-a8c8-f009ef80fba4	g.chrX:76890125C>T	ENST00000373344.5	-	17	4983	c.4769G>A	c.(4768-4770)tGc>tAc	p.C1590Y	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.C1552Y	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1590	Helicase ATP-binding.				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)	GGCAAGAATGCATCCTGAACC	0.358			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						42	3					0	0	1	0	0	T	76890125	C	T	76890125	3	4	363	1	0	0	0	0	1	0	0	0	1206	710	25	2	2785	2	ATRX	23	76890125	Missense_Mutation	SNP	C	TCGA-P5-A72W-01A-11D-A32B-08		76890125	78380435	44	32088											
RPTN	126638	broad.mit.edu	37	1	152127881	152127884	+	Frame_Shift_Del	DEL	TGTC	TGTC	-			TCGA-P5-A72X-01A-11D-A32B-08	TCGA-P5-A72X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37801feb-014d-4baa-a5cd-1cc187d81523	fda2c63f-c629-47fb-b946-aa44624024be	g.chr1:152127881_152127884delTGTC	ENST00000316073.3	-	3	1755_1758	c.1691_1694delGACA	c.(1690-1695)agacaafs	p.RQ564fs		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	564	Gln-rich.					proteinaceous extracellular matrix	calcium ion binding			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						GCTCTGGCCTTGTCTGTCTGTCTG	0.485													7	960	---	---	---	---						-	152127884	TGTC	-	152127881	7	5	364	1	0	1	0	1	0	0	0	0	13716	1812	63	0	664	0	RPTN	1	152127881	Frame_Shift_Del	DEL	TGTC	TCGA-P5-A72X-01A-11D-A32B-08		152127881	97122740	1	32089											
HHIPL2	79802	broad.mit.edu	37	1	222717332	222717332	+	Missense_Mutation	SNP	A	A	T			TCGA-P5-A72X-01A-11D-A32B-08	TCGA-P5-A72X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37801feb-014d-4baa-a5cd-1cc187d81523	fda2c63f-c629-47fb-b946-aa44624024be	g.chr1:222717332A>T	ENST00000343410.6	-	2	579	c.521T>A	c.(520-522)cTt>cAt	p.L174H		NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN	HHIP-like 2	174					carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding			NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		CTTGTCAGGAAGGTCCAGGAG	0.577													4	71					0	0	1	0	0	T	222717332	A	T	222717332	3	4	364	1	0	0	0	0	1	0	0	0	7135	72	3	5	1685	5	HHIPL2	1	222717332	Missense_Mutation	SNP	A	TCGA-P5-A72X-01A-11D-A32B-08	70589451	222717332	26533289	2	32090											
NUP133	55746	broad.mit.edu	37	1	229593964	229593964	+	Missense_Mutation	SNP	T	T	C			TCGA-P5-A72X-01A-11D-A32B-08	TCGA-P5-A72X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37801feb-014d-4baa-a5cd-1cc187d81523	fda2c63f-c629-47fb-b946-aa44624024be	g.chr1:229593964T>C	ENST00000261396.3	-	21	3015	c.2924A>G	c.(2923-2925)aAa>aGa	p.K975R	NUP133_ENST00000537506.1_Missense_Mutation_p.K959R	NM_018230.2	NP_060700.2	Q8WUM0	NU133_HUMAN	nucleoporin 133kDa	975					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding			NS(1)|breast(7)|endometrium(1)|kidney(6)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(4)	56	Breast(184;0.104)|Ovarian(103;0.249)	Prostate(94;0.167)				TGCAGCCAATTTACTCAAGCC	0.368													21	40					0	0	1	0	0	C	229593964	T	C	229593964	3	2	364	1	0	0	0	0	1	0	0	0	10802	1841	64	3	570	3	NUP133	1	229593964	Missense_Mutation	SNP	T	TCGA-P5-A72X-01A-11D-A32B-08	6876632	229593964	19656657	3	32091											
ETAA1	54465	broad.mit.edu	37	2	67631709	67631709	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A72X-01A-11D-A32B-08	TCGA-P5-A72X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37801feb-014d-4baa-a5cd-1cc187d81523	fda2c63f-c629-47fb-b946-aa44624024be	g.chr2:67631709C>T	ENST00000272342.5	+	5	2025	c.1895C>T	c.(1894-1896)aCa>aTa	p.T632I	ETAA1_ENST00000462772.1_Intron	NM_019002.3	NP_061875.2	Q9NY74	ETAA1_HUMAN	Ewing tumor-associated antigen 1	632						cytoplasm|nucleus				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	33						GACAGTAAGACATCAGAAAGT	0.363													44	125					0	0	1	0	0	T	67631709	C	T	67631709	3	4	364	1	0	0	0	0	1	0	0	0	5295	478	17	2	1913	2	ETAA1	2	67631709	Missense_Mutation	SNP	C	TCGA-P5-A72X-01A-11D-A32B-08		67631709	175567664	4	32092											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-P5-A72X-01A-11D-A32B-08	TCGA-P5-A72X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37801feb-014d-4baa-a5cd-1cc187d81523	fda2c63f-c629-47fb-b946-aa44624024be	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	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								20	38					0	0	1	0	0	T	209113112	C	T	209113112	3	4	364	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-P5-A72X-01A-11D-A32B-08	141481403	209113112	34086261	5	32093											
HYAL1	3373	broad.mit.edu	37	3	50339946	50339946	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A72X-01A-11D-A32B-08	TCGA-P5-A72X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37801feb-014d-4baa-a5cd-1cc187d81523	fda2c63f-c629-47fb-b946-aa44624024be	g.chr3:50339946G>A	ENST00000266031.4	-	1	1057	c.442C>T	c.(442-444)Cgg>Tgg	p.R148W	HYAL1_ENST00000395144.2_Missense_Mutation_p.R148W|HYAL1_ENST00000447605.2_Intron|HYAL1_ENST00000457214.2_5'UTR|HYAL1_ENST00000395143.2_Missense_Mutation_p.R148W|HYAL1_ENST00000320295.8_Missense_Mutation_p.R148W			Q12794	HYAL1_HUMAN	hyaluronoglucosaminidase 1	148						extracellular space|lysosome	hyalurononglucosaminidase activity			cervix(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)	Hyaluronidase(DB00070)	GAGCGCTGCCGGTAAATGTCC	0.642													4	170					0	0	1	0	0	A	50339946	G	A	50339946	3	1	364	1	0	0	0	0	1	0	0	0	7507	1115	39	1	877	1	HYAL1	3	50339946	Missense_Mutation	SNP	G	TCGA-P5-A72X-01A-11D-A32B-08		50339946	147682484	6	32094											
DNAH1	25981	broad.mit.edu	37	3	52426901	52426901	+	Missense_Mutation	SNP	A	A	G			TCGA-P5-A72X-01A-11D-A32B-08	TCGA-P5-A72X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37801feb-014d-4baa-a5cd-1cc187d81523	fda2c63f-c629-47fb-b946-aa44624024be	g.chr3:52426901A>G	ENST00000420323.2	+	65	10595	c.10334A>G	c.(10333-10335)gAg>gGg	p.E3445G		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	3510	AAA 5 (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		ACGCGCATGGAGTACATACCC	0.577													4	122					0	0	1	0	0	G	52426901	A	G	52426901	3	3	364	1	0	0	0	0	1	0	0	0	4625	304	11	3	10588	3	DNAH1	3	52426901	Missense_Mutation	SNP	A	TCGA-P5-A72X-01A-11D-A32B-08	2086955	52426901	145595529	7	32095											
LNX1	84708	broad.mit.edu	37	4	54364953	54364953	+	Missense_Mutation	SNP	T	T	C			TCGA-P5-A72X-01A-11D-A32B-08	TCGA-P5-A72X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37801feb-014d-4baa-a5cd-1cc187d81523	fda2c63f-c629-47fb-b946-aa44624024be	g.chr4:54364953T>C	ENST00000306888.2	-	4	796	c.545A>G	c.(544-546)aAt>aGt	p.N182S	LNX1-AS1_ENST00000502373.1_RNA|FIP1L1_ENST00000507166.1_Intron|LNX1_ENST00000263925.7_Missense_Mutation_p.N278S	NM_032622.2	NP_116011.2	Q8TBB1	LNX1_HUMAN	ligand of numb-protein X 1, E3 ubiquitin protein ligase	278						cytoplasm	zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|endometrium(3)|large_intestine(11)|lung(6)|ovary(3)|urinary_tract(4)	32	all_neural(26;0.153)		GBM - Glioblastoma multiforme(3;8.2e-46)|LUSC - Lung squamous cell carcinoma(32;0.0134)			ATCTACTCGATTGATCTTGAT	0.448													26	38					0	0	1	0	0	C	54364953	T	C	54364953	3	2	364	1	0	0	0	0	1	0	0	0	8906	1493	52	3	1381	3	LNX1	4	54364953	Missense_Mutation	SNP	T	TCGA-P5-A72X-01A-11D-A32B-08		54364953	136789323	8	32096											
HAS2	3037	broad.mit.edu	37	8	122626810	122626810	+	Missense_Mutation	SNP	G	G	A	rs148429340	by1000genomes	TCGA-P5-A72X-01A-11D-A32B-08	TCGA-P5-A72X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37801feb-014d-4baa-a5cd-1cc187d81523	fda2c63f-c629-47fb-b946-aa44624024be	g.chr8:122626810G>A	ENST00000303924.4	-	4	1735	c.1198C>T	c.(1198-1200)Cgg>Tgg	p.R400W		NM_005328.2	NP_005319.1	Q92819	HAS2_HUMAN	hyaluronan synthase 2	400						integral to plasma membrane	hyaluronan synthase activity		HAS2/PLAG1(10)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(19)|ovary(5)|skin(1)	38	Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142)		STAD - Stomach adenocarcinoma(47;0.00503)			ATTTTACCCCGGTAGAAGAGC	0.408													4	208					0	0	1	0	0	A	122626810	G	A	122626810	3	1	364	1	0	0	0	0	1	0	0	0	7003	1115	39	1	464	1	HAS2	8	122626810	Missense_Mutation	SNP	G	TCGA-P5-A72X-01A-11D-A32B-08		122626810	23737212	9	32097											
TNC	3371	broad.mit.edu	37	9	117822018	117822018	+	Missense_Mutation	SNP	C	C	G			TCGA-P5-A72X-01A-11D-A32B-08	TCGA-P5-A72X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37801feb-014d-4baa-a5cd-1cc187d81523	fda2c63f-c629-47fb-b946-aa44624024be	g.chr9:117822018C>G	ENST00000350763.4	-	14	4708	c.4297G>C	c.(4297-4299)Gcc>Ccc	p.A1433P	TNC_ENST00000341037.4_Missense_Mutation_p.A1342P|TNC_ENST00000345230.3_Intron|TNC_ENST00000423613.2_Missense_Mutation_p.A1433P|TNC_ENST00000346706.3_Intron|TNC_ENST00000535648.1_Intron|TNC_ENST00000542877.1_Intron|TNC_ENST00000537320.1_Intron|TNC_ENST00000340094.3_Intron	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	1433	Fibronectin type-III 9.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						CCTGTGGAGGCCTCAGCAGAG	0.552													76	174					0	0	1	0	0	G	117822018	C	G	117822018	3	3	364	1	0	0	0	0	1	0	0	0	16330	739	26	5	2368	5	TNC	9	117822018	Missense_Mutation	SNP	C	TCGA-P5-A72X-01A-11D-A32B-08		117822018	23391413	10	32098											
CWF19L2	143884	broad.mit.edu	37	11	107312278	107312278	+	Frame_Shift_Del	DEL	T	T	-			TCGA-P5-A72X-01A-11D-A32B-08	TCGA-P5-A72X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37801feb-014d-4baa-a5cd-1cc187d81523	fda2c63f-c629-47fb-b946-aa44624024be	g.chr11:107312278delT	ENST00000282251.5	-	5	548	c.521delA	c.(520-522)aagfs	p.K174fs	CWF19L2_ENST00000433523.1_Frame_Shift_Del_p.K174fs	NM_152434.2	NP_689647.2	Q2TBE0	C19L2_HUMAN	CWF19-like 2, cell cycle control (S. pombe)	174							catalytic activity			endometrium(4)|kidney(2)|large_intestine(13)|lung(21)	40		Melanoma(852;1.75e-05)|all_epithelial(67;6.27e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258)		Epithelial(105;7.18e-06)|BRCA - Breast invasive adenocarcinoma(274;1.65e-05)|all cancers(92;1.76e-05)		CATAGTTTCCTTTTCAGCTTT	0.318													2	4	---	---	---	---						-	107312278	T	-	107312278	7	5	364	1	0	1	0	1	0	0	0	0	4095	1609	56	0	2219	0	CWF19L2	11	107312278	Frame_Shift_Del	DEL	T	TCGA-P5-A72X-01A-11D-A32B-08		107312278	27694238	11	32099											
TSC22D1	8848	broad.mit.edu	37	13	45148706	45148708	+	In_Frame_Del	DEL	TGC	TGC	-	rs112613609		TCGA-P5-A72X-01A-11D-A32B-08	TCGA-P5-A72X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37801feb-014d-4baa-a5cd-1cc187d81523	fda2c63f-c629-47fb-b946-aa44624024be	g.chr13:45148706_45148708delTGC	ENST00000458659.2	-	1	1993_1995	c.1503_1505delGCA	c.(1501-1506)cagcaa>caa	p.501_502QQ>Q	TSC22D1_ENST00000501704.2_In_Frame_Del_p.501_502QQ>Q	NM_183422.3	NP_904358.2	Q15714	T22D1_HUMAN	TSC22 domain family, member 1	501	Gln-rich.				transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding transcription factor activity			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118)		ttgttgttgttgctgctgctgct	0.507													8	125	---	---	---	---						-	45148708	TGC	-	45148706	7	5	364	1	0	1	0	1	0	0	0	0	16668	1812	63	0	1857	0	TSC22D1	13	45148706	In_Frame_Del	DEL	TGC	TCGA-P5-A72X-01A-11D-A32B-08		45148706	70021172	12	32100											
SMTNL2	342527	broad.mit.edu	37	17	4510712	4510712	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A72X-01A-11D-A32B-08	TCGA-P5-A72X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37801feb-014d-4baa-a5cd-1cc187d81523	fda2c63f-c629-47fb-b946-aa44624024be	g.chr17:4510712G>A	ENST00000389313.4	+	8	1383	c.1316G>A	c.(1315-1317)cGc>cAc	p.R439H	SMTNL2_ENST00000338859.4_Missense_Mutation_p.R295H	NM_001114974.1	NP_001108446.1	Q2TAL5	SMTL2_HUMAN	smoothelin-like 2	439	CH.									breast(1)|endometrium(9)|kidney(1)|lung(1)|skin(1)	13				READ - Rectum adenocarcinoma(115;0.0325)		GTGATGGGCCGCAAGCCGGAC	0.582													5	214					0	0	1	0	0	A	4510712	G	A	4510712	3	1	364	1	0	0	0	0	1	0	0	0	14870	1087	38	1	1346	1	SMTNL2	17	4510712	Missense_Mutation	SNP	G	TCGA-P5-A72X-01A-11D-A32B-08		4510712	76684498	13	32101											
TP53	7157	broad.mit.edu	37	17	7578280	7578280	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A72X-01A-11D-A32B-08	TCGA-P5-A72X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37801feb-014d-4baa-a5cd-1cc187d81523	fda2c63f-c629-47fb-b946-aa44624024be	g.chr17:7578280G>A	ENST00000420246.2	-	6	701	c.569C>T	c.(568-570)cCt>cTt	p.P190L	TP53_ENST00000269305.4_Missense_Mutation_p.P190L|TP53_ENST00000413465.2_Missense_Mutation_p.P190L|TP53_ENST00000574684.1_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.P190L|TP53_ENST00000445888.2_Missense_Mutation_p.P190L|TP53_ENST00000455263.2_Missense_Mutation_p.P190L	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	190	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		P -> A (in sporadic cancers; somatic mutation).|P -> H (in a sporadic cancer; somatic mutation).|P -> L (in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> S (in sporadic cancers; somatic mutation).|P -> T (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.P190L(21)|p.0?(8)|p.?(7)|p.P190fs*57(6)|p.P190del(6)|p.A189_V197delAPPQHLIRV(4)|p.P190R(2)|p.G187fs*16(2)|p.P190F(2)|p.D186_P191delDGLAPP(1)|p.P190H(1)|p.P58fs*>33(1)|p.P191fs*18(1)|p.A189_Q192>E(1)|p.L188_P191del(1)|p.A189_P190>X(1)|p.P97fs*57(1)|p.A189fs*53(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)		ATGCTGAGGAGGGGCCAGACC	0.552		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)			24	25					0	0	1	0	0	A	7578280	G	A	7578280	3	1	364	1	0	0	0	0	1	0	0	0	16442	1000	35	2	725	2	TP53	17	7578280	Missense_Mutation	SNP	G	TCGA-P5-A72X-01A-11D-A32B-08	3067568	7578280	73616930	14	32102											
MYOCD	93649	broad.mit.edu	37	17	12626238	12626238	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A72X-01A-11D-A32B-08	TCGA-P5-A72X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37801feb-014d-4baa-a5cd-1cc187d81523	fda2c63f-c629-47fb-b946-aa44624024be	g.chr17:12626238G>A	ENST00000425538.1	+	5	528	c.328G>A	c.(328-330)Gaa>Aaa	p.E110K	MYOCD_ENST00000395988.1_3'UTR|MYOCD_ENST00000343344.4_Missense_Mutation_p.E110K|AC005358.1_ENST00000609971.1_Missense_Mutation_p.E14K	NM_001146312.1|NM_153604.2	NP_001139784.1|NP_705832.1	Q8IZQ8	MYCD_HUMAN	myocardin	110					cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		TGATCTCAATGAAAAAATTGC	0.453													5	189					0	0	1	0	0	A	12626238	G	A	12626238	3	1	364	1	0	0	0	0	1	0	0	0	10135	1291	45	2	346	2	MYOCD	17	12626238	Missense_Mutation	SNP	G	TCGA-P5-A72X-01A-11D-A32B-08	5047958	12626238	68568972	15	32103											
PKN1	5585	broad.mit.edu	37	19	14581115	14581115	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A72X-01A-11D-A32B-08	TCGA-P5-A72X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37801feb-014d-4baa-a5cd-1cc187d81523	fda2c63f-c629-47fb-b946-aa44624024be	g.chr19:14581115G>A	ENST00000242783.6	+	19	2599	c.2434G>A	c.(2434-2436)Gag>Aag	p.E812K	PKN1_ENST00000342216.4_Missense_Mutation_p.E818K	NM_002741.3	NP_002732.3	Q16512	PKN1_HUMAN	protein kinase N1	812	Protein kinase.			E -> G (in Ref. 3; BAG36611).	activation of JUN kinase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	endosome|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|GTP-Rho binding|histone binding|histone deacetylase binding|histone kinase activity (H3-T11 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|Rac GTPase binding			breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)	31						GCTGGTTGGCGAGGTGAGACC	0.627													11	28					0	0	1	0	0	A	14581115	G	A	14581115	3	1	364	1	0	0	0	0	1	0	0	0	12027	1059	37	1	2551	1	PKN1	19	14581115	Missense_Mutation	SNP	G	TCGA-P5-A72X-01A-11D-A32B-08		14581115	44547868	16	32104											
CCDC9	26093	broad.mit.edu	37	19	47764023	47764023	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A72X-01A-11D-A32B-08	TCGA-P5-A72X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37801feb-014d-4baa-a5cd-1cc187d81523	fda2c63f-c629-47fb-b946-aa44624024be	g.chr19:47764023G>A	ENST00000221922.6	+	5	611	c.389G>A	c.(388-390)cGg>cAg	p.R130Q		NM_015603.2	NP_056418.1	Q9Y3X0	CCDC9_HUMAN	coiled-coil domain containing 9	130	Gly-rich.									endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|urinary_tract(1)	12		all_cancers(25;0.0432)|all_epithelial(76;0.00812)|Medulloblastoma(540;0.0208)|all_neural(266;0.0416)|Hepatocellular(1079;0.114)		OV - Ovarian serous cystadenocarcinoma(262;8.51e-95)|Epithelial(262;1.15e-92)|all cancers(93;7.67e-84)|GBM - Glioblastoma multiforme(486;0.024)|STAD - Stomach adenocarcinoma(1328;0.183)		GGCCGTGGCCGGAGGGGCCGG	0.706													17	21					0	0	1	0	0	A	47764023	G	A	47764023	3	1	364	1	0	0	0	0	1	0	0	0	2887	1116	39	1	403	1	CCDC9	19	47764023	Missense_Mutation	SNP	G	TCGA-P5-A72X-01A-11D-A32B-08	33182908	47764023	11364960	17	32105											
CSTF1	1477	broad.mit.edu	37	20	54972798	54972798	+	Missense_Mutation	SNP	C	C	G			TCGA-P5-A72X-01A-11D-A32B-08	TCGA-P5-A72X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37801feb-014d-4baa-a5cd-1cc187d81523	fda2c63f-c629-47fb-b946-aa44624024be	g.chr20:54972798C>G	ENST00000217109.4	+	4	898	c.546C>G	c.(544-546)caC>caG	p.H182Q	CSTF1_ENST00000493039.1_3'UTR	NM_001033521.1|NM_001324.2	NP_001028693.1|NP_001315.1	Q05048	CSTF1_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 1, 50kDa	182					mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	protein binding|RNA binding			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	15			Colorectal(105;0.202)			TTGCTTTCCACCCAACAGAAC	0.408													3	95					0	0	1	0	0	G	54972798	C	G	54972798	3	3	364	1	0	0	0	0	1	0	0	0	4008	506	18	5	556	5	CSTF1	20	54972798	Missense_Mutation	SNP	C	TCGA-P5-A72X-01A-11D-A32B-08		54972798	8052722	18	32106											
VSIG4	11326	broad.mit.edu	37	X	65252309	65252309	+	Splice_Site	SNP	C	C	A			TCGA-P5-A72X-01A-11D-A32B-08	TCGA-P5-A72X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37801feb-014d-4baa-a5cd-1cc187d81523	fda2c63f-c629-47fb-b946-aa44624024be	g.chrX:65252309C>A	ENST00000455586.2	-	3	821		c.e3+1		VSIG4_ENST00000374737.4_Splice_Site|VSIG4_ENST00000412866.2_Intron	NM_001184830.1	NP_001171759.1	Q9Y279	VSIG4_HUMAN	V-set and immunoglobulin domain containing 4						complement activation, alternative pathway	integral to membrane	protein binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GGGCCGCTCACCTTTGACCAC	0.507													4	30					0.00909568	0.00909568	1	1	0	A	65252309	C	A	65252309	5	1	364	1	0	0	0	0	0	0	1	0	17285	521	18	5	532	5	VSIG4	23	65252309	Splice_Site	SNP	C	TCGA-P5-A72X-01A-11D-A32B-08		65252309	90018251	19	32107											
ATRX	546	broad.mit.edu	37	X	76855036	76855037	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-P5-A72X-01A-11D-A32B-08	TCGA-P5-A72X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37801feb-014d-4baa-a5cd-1cc187d81523	fda2c63f-c629-47fb-b946-aa44624024be	g.chrX:76855036_76855037delCT	ENST00000373344.5	-	25	6013_6014	c.5799_5800delAG	c.(5797-5802)aaagggfs	p.G1934fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.G1896fs	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1934	Poly-Lys.				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)	CCCTTTTTCCCTTTTTTCTTCT	0.356			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						169	50	---	---	---	---						-	76855037	CT	-	76855036	7	5	364	1	0	1	0	1	0	0	0	0	1206	681	24	0	1722	0	ATRX	23	76855036	Frame_Shift_Del	DEL	CT	TCGA-P5-A72X-01A-11D-A32B-08	11602727	76855036	78415524	20	32108											
LCE3E	353145	broad.mit.edu	37	1	152538494	152538494	+	Missense_Mutation	SNP	C	C	T	rs143470301		TCGA-P5-A72Z-01A-11D-A32B-08	TCGA-P5-A72Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e35407-c89c-4456-ae75-ac1a5c654d4e	2cb82482-08eb-45d5-9002-c0470f357383	g.chr1:152538494C>T	ENST00000368789.1	-	2	246	c.191G>A	c.(190-192)cGg>cAg	p.R64Q		NM_178435.2	NP_848522.1	Q5T5B0	LCE3E_HUMAN	late cornified envelope 3E	64					keratinization					lung(6)|ovary(1)	7	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		Lung(1;0.000294)|LUAD - Lung adenocarcinoma(1;0.00527)|LUSC - Lung squamous cell carcinoma(543;0.206)	UCEC - Uterine corpus endometrioid carcinoma (5;0.153)		CCTCTGGCGCCGGCATCGGTG	0.677													8	77					0	0	1	0	0	T	152538494	C	T	152538494	3	4	365	1	0	0	0	0	1	0	0	0	8712	652	23	1	91	1	LCE3E	1	152538494	Missense_Mutation	SNP	C	TCGA-P5-A72Z-01A-11D-A32B-08		152538494	96712127	1	32109											
KDM5B	10765	broad.mit.edu	37	1	202718147	202718147	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A72Z-01A-11D-A32B-08	TCGA-P5-A72Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e35407-c89c-4456-ae75-ac1a5c654d4e	2cb82482-08eb-45d5-9002-c0470f357383	g.chr1:202718147C>T	ENST00000367265.3	-	14	3106	c.1942G>A	c.(1942-1944)Gct>Act	p.A648T	KDM5B_ENST00000367264.2_Missense_Mutation_p.A684T	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B	648					negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						ACAGTTGAAGCCACTACAACA	0.413													36	51					0	0	1	0	0	T	202718147	C	T	202718147	3	4	365	1	0	0	0	0	1	0	0	0	8177	739	26	2	2748	2	KDM5B	1	202718147	Missense_Mutation	SNP	C	TCGA-P5-A72Z-01A-11D-A32B-08	50179653	202718147	46532474	2	32110											
PPM1B	5495	broad.mit.edu	37	2	44428625	44428625	+	Missense_Mutation	SNP	A	A	T			TCGA-P5-A72Z-01A-11D-A32B-08	TCGA-P5-A72Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e35407-c89c-4456-ae75-ac1a5c654d4e	2cb82482-08eb-45d5-9002-c0470f357383	g.chr2:44428625A>T	ENST00000378551.2	+	2	699	c.287A>T	c.(286-288)gAg>gTg	p.E96V	PPM1B_ENST00000345249.4_Intron|PPM1B_ENST00000409432.3_Missense_Mutation_p.E96V|PPM1B_ENST00000282412.4_Missense_Mutation_p.E96V|PPM1B_ENST00000409895.4_Missense_Mutation_p.E96V|PPM1B_ENST00000378540.4_3'UTR	NM_177968.2	NP_808907.1	O75688	PPM1B_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1B	96					protein dephosphorylation	protein serine/threonine phosphatase complex	magnesium ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity			kidney(4)|large_intestine(3)|lung(7)|skin(2)	16		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				TCTGCTCTTGAGCTTTCAGTG	0.408													37	40					0	0	1	0	0	T	44428625	A	T	44428625	3	4	365	1	0	0	0	0	1	0	0	0	12385	304	11	5	289	5	PPM1B	2	44428625	Missense_Mutation	SNP	A	TCGA-P5-A72Z-01A-11D-A32B-08		44428625	198770748	3	32111											
LCT	3938	broad.mit.edu	37	2	136566252	136566252	+	Missense_Mutation	SNP	T	T	C			TCGA-P5-A72Z-01A-11D-A32B-08	TCGA-P5-A72Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e35407-c89c-4456-ae75-ac1a5c654d4e	2cb82482-08eb-45d5-9002-c0470f357383	g.chr2:136566252T>C	ENST00000264162.2	-	8	3675	c.3665A>G	c.(3664-3666)aAc>aGc	p.N1222S		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	1222	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		GGAGGGTGGGTTTAGCCTGGG	0.587													27	103					0	0	1	0	0	C	136566252	T	C	136566252	3	2	365	1	0	0	0	0	1	0	0	0	8732	1725	60	3	2158	3	LCT	2	136566252	Missense_Mutation	SNP	T	TCGA-P5-A72Z-01A-11D-A32B-08	92137627	136566252	106633121	4	32112											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-P5-A72Z-01A-11D-A32B-08	TCGA-P5-A72Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e35407-c89c-4456-ae75-ac1a5c654d4e	2cb82482-08eb-45d5-9002-c0470f357383	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	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								24	17					0	0	1	0	0	T	209113112	C	T	209113112	3	4	365	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-P5-A72Z-01A-11D-A32B-08	72546860	209113112	34086261	5	32113											
PIKFYVE	200576	broad.mit.edu	37	2	209190050	209190050	+	Missense_Mutation	SNP	A	A	G			TCGA-P5-A72Z-01A-11D-A32B-08	TCGA-P5-A72Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e35407-c89c-4456-ae75-ac1a5c654d4e	2cb82482-08eb-45d5-9002-c0470f357383	g.chr2:209190050A>G	ENST00000264380.4	+	20	2673	c.2515A>G	c.(2515-2517)Atc>Gtc	p.I839V		NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	839					cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						AGGCTGTACAATCAAGCTAAG	0.393													28	11					0	0	1	0	0	G	209190050	A	G	209190050	3	3	365	1	0	0	0	0	1	0	0	0	11972	101	4	3	2600	3	PIKFYVE	2	209190050	Missense_Mutation	SNP	A	TCGA-P5-A72Z-01A-11D-A32B-08	76938	209190050	34009323	6	32114											
GLB1	2720	broad.mit.edu	37	3	33109728	33109728	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A72Z-01A-11D-A32B-08	TCGA-P5-A72Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e35407-c89c-4456-ae75-ac1a5c654d4e	2cb82482-08eb-45d5-9002-c0470f357383	g.chr3:33109728C>T	ENST00000307363.5	-	4	595	c.451G>A	c.(451-453)Gac>Aac	p.D151N	GLB1_ENST00000399402.3_Missense_Mutation_p.D121N|GLB1_ENST00000445488.2_Missense_Mutation_p.D199N|GLB1_ENST00000307377.8_Intron	NM_000404.2	NP_000395	P16278	BGAL_HUMAN	galactosidase, beta 1	151			D -> V (in GM1G1).|D -> Y (in GM1G1; complete lack of protein; no enzymatic activity).		carbohydrate metabolic process	lysosome|perinuclear region of cytoplasm	beta-galactosidase activity|cation binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	21		Melanoma(143;0.104)				CTACCTGGGTCGGAGGAGCGG	0.488													27	36					0	0	1	0	0	T	33109728	C	T	33109728	3	4	365	1	0	0	0	0	1	0	0	0	6469	884	31	1	1634	1	GLB1	3	33109728	Missense_Mutation	SNP	C	TCGA-P5-A72Z-01A-11D-A32B-08		33109728	164912702	7	32115											
ARFIP1	27236	broad.mit.edu	37	4	153791963	153791963	+	Silent	SNP	A	A	G			TCGA-P5-A72Z-01A-11D-A32B-08	TCGA-P5-A72Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e35407-c89c-4456-ae75-ac1a5c654d4e	2cb82482-08eb-45d5-9002-c0470f357383	g.chr4:153791963A>G	ENST00000451320.2	+	4	425	c.261A>G	c.(259-261)cgA>cgG	p.R87R	ARFIP1_ENST00000405727.2_Intron|ARFIP1_ENST00000511289.1_3'UTR|ARFIP1_ENST00000353617.2_Silent_p.R87R|ARFIP1_ENST00000356064.3_Intron|ARFIP1_ENST00000429148.2_Intron			P53367	ARFP1_HUMAN	ADP-ribosylation factor interacting protein 1	87					intracellular protein transport|regulation of protein secretion	cytosol|Golgi membrane			ARFIP1/FHDC1(2)	cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1)	14	all_hematologic(180;0.093)					CAGCTAGTCGACTGGCTCAGC	0.448													30	38					0	0	1	0	0	G	153791963	A	G	153791963	2	3	365	1	0	0	0	0	0	0	0	1	851	262	10	3		3	ARFIP1	4	153791963	Silent	SNP	A	TCGA-P5-A72Z-01A-11D-A32B-08		153791963	37362313	8	32116											
NIPBL	25836	broad.mit.edu	37	5	37001134	37001135	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-P5-A72Z-01A-11D-A32B-08	TCGA-P5-A72Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e35407-c89c-4456-ae75-ac1a5c654d4e	2cb82482-08eb-45d5-9002-c0470f357383	g.chr5:37001134_37001135delAG	ENST00000282516.8	+	14	4117_4118	c.3618_3619delAG	c.(3616-3621)atagagfs	p.E1207fs	NIPBL_ENST00000448238.2_Frame_Shift_Del_p.E1207fs	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	1207					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			CAGCCTCAATAGAGAATATTTT	0.307													21	43	---	---	---	---						-	37001135	AG	-	37001134	7	5	365	1	0	1	0	1	0	0	0	0	10475	410	15	0	3668	0	NIPBL	5	37001134	Frame_Shift_Del	DEL	AG	TCGA-P5-A72Z-01A-11D-A32B-08		37001134	143914126	9	32117											
TAP1	6890	broad.mit.edu	37	6	32821013	32821013	+	Frame_Shift_Del	DEL	C	C	-			TCGA-P5-A72Z-01A-11D-A32B-08	TCGA-P5-A72Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e35407-c89c-4456-ae75-ac1a5c654d4e	2cb82482-08eb-45d5-9002-c0470f357383	g.chr6:32821013delC	ENST00000354258.4	-	1	742	c.581delG	c.(580-582)ggafs	p.G194fs	PSMB9_ENST00000395330.1_Intron	NM_000593.5	NP_000584.2	Q03518	TAP1_HUMAN	transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)	194					antigen processing and presentation of endogenous peptide antigen via MHC class I|cytosol to ER transport|intracellular transport of viral proteins in host cell|positive regulation of T cell mediated cytotoxicity	cytosol|plasma membrane|TAP complex	ADP binding|ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|protein homodimerization activity|TAP1 binding|TAP2 binding|tapasin binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(4)|prostate(1)|skin(1)	21						AGGGTGACTTCCCCAGTGCAG	0.672													2	4	---	---	---	---						-	32821013	C	-	32821013	7	5	365	1	0	1	0	1	0	0	0	0	15607	855	30	0	1889	0	TAP1	6	32821013	Frame_Shift_Del	DEL	C	TCGA-P5-A72Z-01A-11D-A32B-08		32821013	138294054	10	32118											
HMGCLL1	54511	broad.mit.edu	37	6	55360227	55360227	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A72Z-01A-11D-A32B-08	TCGA-P5-A72Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e35407-c89c-4456-ae75-ac1a5c654d4e	2cb82482-08eb-45d5-9002-c0470f357383	g.chr6:55360227G>A	ENST00000398661.2	-	8	1006	c.875C>T	c.(874-876)aCg>aTg	p.T292M	HMGCLL1_ENST00000508459.1_Intron|HMGCLL1_ENST00000308161.4_Missense_Mutation_p.T230M|HMGCLL1_ENST00000370850.2_Missense_Mutation_p.T159M|HMGCLL1_ENST00000274901.4_Missense_Mutation_p.T262M	NM_019036.2	NP_061909.2	Q8TB92	HMGC2_HUMAN	3-hydroxymethyl-3-methylglutaryl-CoA lyase-like 1	292							hydroxymethylglutaryl-CoA lyase activity|metal ion binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31	Lung NSC(77;0.0875)		LUSC - Lung squamous cell carcinoma(124;0.23)			CTGAAGGGCCGTAAGGATATT	0.383													25	24					0	0	1	0	0	A	55360227	G	A	55360227	3	1	365	1	0	0	0	0	1	0	0	0	7271	1145	40	1	249	1	HMGCLL1	6	55360227	Missense_Mutation	SNP	G	TCGA-P5-A72Z-01A-11D-A32B-08	22539214	55360227	115754840	11	32119											
DST	667	broad.mit.edu	37	6	56374648	56374648	+	Silent	SNP	G	G	A			TCGA-P5-A72Z-01A-11D-A32B-08	TCGA-P5-A72Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e35407-c89c-4456-ae75-ac1a5c654d4e	2cb82482-08eb-45d5-9002-c0470f357383	g.chr6:56374648G>A	ENST00000370754.5	-	74	18710	c.18711C>T	c.(18709-18711)atC>atT	p.I6237I	DST_ENST00000361203.3_Silent_p.I5948I|DST_ENST00000340834.4_5'UTR|DST_ENST00000312431.6_3'UTR|DST_ENST00000421834.2_Silent_p.I3971I|DST_ENST00000244364.6_Silent_p.I3645I|DST_ENST00000370769.4_Silent_p.I6059I|DST_ENST00000446842.2_Silent_p.I5733I|DST_ENST00000370788.2_Silent_p.I3862I			Q03001	DYST_HUMAN	dystonin	6057					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			GGCTCTCAAGGATCTGATCTA	0.398													21	10					0	0	1	0	0	A	56374648	G	A	56374648	2	1	365	1	0	0	0	0	0	0	0	1	4809	1164	41	2		2	DST	6	56374648	Silent	SNP	G	TCGA-P5-A72Z-01A-11D-A32B-08	1014421	56374648	114740419	12	32120											
SYNE1	23345	broad.mit.edu	37	6	152647526	152647526	+	Silent	SNP	G	G	A			TCGA-P5-A72Z-01A-11D-A32B-08	TCGA-P5-A72Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e35407-c89c-4456-ae75-ac1a5c654d4e	2cb82482-08eb-45d5-9002-c0470f357383	g.chr6:152647526G>A	ENST00000367255.5	-	79	15799	c.15198C>T	c.(15196-15198)acC>acT	p.T5066T	SYNE1_ENST00000341594.5_Silent_p.T4813T|SYNE1_ENST00000448038.1_Silent_p.T4995T|SYNE1_ENST00000265368.4_Silent_p.T5066T|SYNE1_ENST00000423061.1_Silent_p.T4995T	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	5066					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CTTCTTTGCCGGTTGGCTTGA	0.522										HNSCC(10;0.0054)			23	34					0	0	1	0	0	A	152647526	G	A	152647526	2	1	365	1	0	0	0	0	0	0	0	1	15502	1103	39	1		1	SYNE1	6	152647526	Silent	SNP	G	TCGA-P5-A72Z-01A-11D-A32B-08	96272878	152647526	18467541	13	32121											
KCND2	3751	broad.mit.edu	37	7	119914946	119914946	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A72Z-01A-11D-A32B-08	TCGA-P5-A72Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e35407-c89c-4456-ae75-ac1a5c654d4e	2cb82482-08eb-45d5-9002-c0470f357383	g.chr7:119914946G>A	ENST00000331113.4	+	1	1225	c.260G>A	c.(259-261)cGt>cAt	p.R87H		NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	87	Interaction with KCNIP1 (By similarity).				regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)					TTCTTTGACCGTGACCCAGAC	0.527													4	169					0	0	1	0	0	A	119914946	G	A	119914946	3	1	365	1	0	0	0	0	1	0	0	0	8063	1145	40	1	262	1	KCND2	7	119914946	Missense_Mutation	SNP	G	TCGA-P5-A72Z-01A-11D-A32B-08		119914946	39223717	14	32122											
OR2A5	393046	broad.mit.edu	37	7	143748007	143748007	+	Silent	SNP	C	C	T			TCGA-P5-A72Z-01A-11D-A32B-08	TCGA-P5-A72Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e35407-c89c-4456-ae75-ac1a5c654d4e	2cb82482-08eb-45d5-9002-c0470f357383	g.chr7:143748007C>T	ENST00000408906.2	+	1	547	c.513C>T	c.(511-513)ccC>ccT	p.P171P		NM_012365.1	NP_036497.1	Q96R48	OR2A5_HUMAN	olfactory receptor, family 2, subfamily A, member 5	171					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(3)|large_intestine(5)|lung(23)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	38	Melanoma(164;0.0783)					TCTGTGGGCCCCATGAAATCA	0.552													5	255					0	0	1	0	0	T	143748007	C	T	143748007	2	4	365	1	0	0	0	0	0	0	0	1	11029	610	22	2		2	OR2A5	7	143748007	Silent	SNP	C	TCGA-P5-A72Z-01A-11D-A32B-08	23833061	143748007	15390656	15	32123											
OR2A14	135941	broad.mit.edu	37	7	143826709	143826709	+	Silent	SNP	C	C	T			TCGA-P5-A72Z-01A-11D-A32B-08	TCGA-P5-A72Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e35407-c89c-4456-ae75-ac1a5c654d4e	2cb82482-08eb-45d5-9002-c0470f357383	g.chr7:143826709C>T	ENST00000408899.2	+	1	559	c.504C>T	c.(502-504)tgC>tgT	p.C168C		NM_001001659.1	NP_001001659.1	Q96R47	O2A14_HUMAN	olfactory receptor, family 2, subfamily A, member 14	168					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(4)|lung(17)|skin(1)	22	Melanoma(164;0.0783)					TGCCCTTCTGCGGGCCTCATG	0.552													92	208					0	0	1	0	0	T	143826709	C	T	143826709	2	4	365	1	0	0	0	0	0	0	0	1	11024	776	27	1		1	OR2A14	7	143826709	Silent	SNP	C	TCGA-P5-A72Z-01A-11D-A32B-08	78702	143826709	15311954	16	32124											
JPH1	56704	broad.mit.edu	37	8	75227343	75227343	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A72Z-01A-11D-A32B-08	TCGA-P5-A72Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e35407-c89c-4456-ae75-ac1a5c654d4e	2cb82482-08eb-45d5-9002-c0470f357383	g.chr8:75227343G>A	ENST00000342232.4	-	2	932	c.892C>T	c.(892-894)Cgc>Tgc	p.R298C		NM_020647.2	NP_065698.1	Q9HDC5	JPH1_HUMAN	junctophilin 1	298					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional membrane complex|junctional sarcoplasmic reticulum membrane|plasma membrane				endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	24	Breast(64;0.00576)		BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)			CCATTGGAGCGCTCGCTAACG	0.537													10	100					0	0	1	0	0	A	75227343	G	A	75227343	3	1	365	1	0	0	0	0	1	0	0	0	8004	1087	38	1	1109	1	JPH1	8	75227343	Missense_Mutation	SNP	G	TCGA-P5-A72Z-01A-11D-A32B-08		75227343	71136679	17	32125											
PTPRD	5789	broad.mit.edu	37	9	8521487	8521487	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A72Z-01A-11D-A32B-08	TCGA-P5-A72Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e35407-c89c-4456-ae75-ac1a5c654d4e	2cb82482-08eb-45d5-9002-c0470f357383	g.chr9:8521487C>T	ENST00000381196.4	-	17	1294	c.751G>A	c.(751-753)Gga>Aga	p.G251R	PTPRD_ENST00000486161.1_Missense_Mutation_p.G251R|PTPRD_ENST00000540109.1_Missense_Mutation_p.G251R|PTPRD_ENST00000397617.3_Missense_Mutation_p.G241R|PTPRD_ENST00000355233.5_Missense_Mutation_p.G251R|PTPRD_ENST00000397611.3_Missense_Mutation_p.G248R|PTPRD_ENST00000537002.1_Missense_Mutation_p.G248R|PTPRD_ENST00000356435.5_Missense_Mutation_p.G251R|PTPRD_ENST00000360074.4_Missense_Mutation_p.G238R|PTPRD_ENST00000397606.3_Missense_Mutation_p.G241R|PTPRD_ENST00000358503.5_Missense_Mutation_p.G238R	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	251	Ig-like C2-type 3.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		TTAACGCTTCCGCCTGGCATG	0.468										TSP Lung(15;0.13)			22	10					0	0	1	0	0	T	8521487	C	T	8521487	3	4	365	1	0	0	0	0	1	0	0	0	12851	661	23	1	5163	1	PTPRD	9	8521487	Missense_Mutation	SNP	C	TCGA-P5-A72Z-01A-11D-A32B-08		8521487	132691944	18	32126											
DIP2C	22982	broad.mit.edu	37	10	518418	518418	+	Nonsense_Mutation	SNP	G	G	A			TCGA-P5-A72Z-01A-11D-A32B-08	TCGA-P5-A72Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e35407-c89c-4456-ae75-ac1a5c654d4e	2cb82482-08eb-45d5-9002-c0470f357383	g.chr10:518418G>A	ENST00000280886.6	-	3	316	c.229C>T	c.(229-231)Cga>Tga	p.R77*	DIP2C_ENST00000381496.3_5'UTR	NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	77						nucleus	catalytic activity|transcription factor binding			breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		GAAGACCGTCGGCGGTGGTAG	0.592													5	107					0	0	1	0	0	A	518418	G	A	518418	4	1	365	1	0	0	0	0	0	1	0	0	4557	1124	39	1	4581	1	DIP2C	10	518418	Nonsense_Mutation	SNP	G	TCGA-P5-A72Z-01A-11D-A32B-08		518418	135016329	19	32127											
CHAT	1103	broad.mit.edu	37	10	50833584	50833584	+	Missense_Mutation	SNP	A	A	C			TCGA-P5-A72Z-01A-11D-A32B-08	TCGA-P5-A72Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e35407-c89c-4456-ae75-ac1a5c654d4e	2cb82482-08eb-45d5-9002-c0470f357383	g.chr10:50833584A>C	ENST00000395562.2	+	7	1041	c.572A>C	c.(571-573)tAc>tCc	p.Y191S	CHAT_ENST00000395559.2_Missense_Mutation_p.Y155S|CHAT_ENST00000351556.3_Missense_Mutation_p.Y155S|CHAT_ENST00000455728.2_Missense_Mutation_p.Y155S|CHAT_ENST00000339797.1_Missense_Mutation_p.Y155S|CHAT_ENST00000337653.2_Missense_Mutation_p.Y273S	NM_001142933.1|NM_001142934.1	NP_001136405|NP_001136406.1	P28329	CLAT_HUMAN	choline O-acetyltransferase	273					neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity			central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)	ATGAAGCAATACTATGGGCTC	0.602													8	8					0	0	1	0	0	C	50833584	A	C	50833584	3	2	365	1	0	0	0	0	1	0	0	0	3335	391	14	5	884	5	CHAT	10	50833584	Missense_Mutation	SNP	A	TCGA-P5-A72Z-01A-11D-A32B-08	50315166	50833584	84701163	20	32128											
OR51I2	390064	broad.mit.edu	37	11	5475052	5475052	+	Missense_Mutation	SNP	T	T	C			TCGA-P5-A72Z-01A-11D-A32B-08	TCGA-P5-A72Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e35407-c89c-4456-ae75-ac1a5c654d4e	2cb82482-08eb-45d5-9002-c0470f357383	g.chr11:5475052T>C	ENST00000341449.2	+	1	415	c.334T>C	c.(334-336)Tca>Cca	p.S112P	HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA	NM_001004754.2	NP_001004754.1	Q9H344	O51I2_HUMAN	olfactory receptor, family 51, subfamily I, member 2	112					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.09e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CATGATGGAATCAGGTATTCT	0.483													36	70					0	0	1	0	0	C	5475052	T	C	5475052	3	2	365	1	0	0	0	0	1	0	0	0	11149	1435	50	3	336	3	OR51I2	11	5475052	Missense_Mutation	SNP	T	TCGA-P5-A72Z-01A-11D-A32B-08		5475052	129531464	21	32129											
C11orf16	56673	broad.mit.edu	37	11	8943016	8943016	+	Silent	SNP	C	C	T			TCGA-P5-A72Z-01A-11D-A32B-08	TCGA-P5-A72Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e35407-c89c-4456-ae75-ac1a5c654d4e	2cb82482-08eb-45d5-9002-c0470f357383	g.chr11:8943016C>T	ENST00000326053.5	-	6	1357	c.1251G>A	c.(1249-1251)caG>caA	p.Q417Q	C11orf16_ENST00000525780.1_Intron	NM_020643.2	NP_065694.2	Q9NQ32	CK016_HUMAN	chromosome 11 open reading frame 16	417										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	22				Epithelial(150;4.11e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0234)		GTGCTCTCTGCTGTTTGTGAT	0.473													7	104					0	0	1	0	0	T	8943016	C	T	8943016	2	4	365	1	0	0	0	0	0	0	0	1	1635	796	28	2		2	C11orf16	11	8943016	Silent	SNP	C	TCGA-P5-A72Z-01A-11D-A32B-08	3467964	8943016	126063500	22	32130											
PPP2R5B	5526	broad.mit.edu	37	11	64694345	64694345	+	Missense_Mutation	SNP	C	C	A			TCGA-P5-A72Z-01A-11D-A32B-08	TCGA-P5-A72Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e35407-c89c-4456-ae75-ac1a5c654d4e	2cb82482-08eb-45d5-9002-c0470f357383	g.chr11:64694345C>A	ENST00000164133.2	+	3	983	c.361C>A	c.(361-363)Ctc>Atc	p.L121I		NM_006244.3	NP_006235.1	Q15173	2A5B_HUMAN	protein phosphatase 2, regulatory subunit B', beta	121					signal transduction	cytoplasm|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(2)	21						CCGGGGTGTCCTCATCGAGCC	0.652													3	37					0.115264	0.117481	1	1	0	A	64694345	C	A	64694345	3	1	365	1	0	0	0	0	1	0	0	0	12442	681	24	4	367	4	PPP2R5B	11	64694345	Missense_Mutation	SNP	C	TCGA-P5-A72Z-01A-11D-A32B-08	55751329	64694345	70312171	23	32131											
RELT	84957	broad.mit.edu	37	11	73105561	73105561	+	Silent	SNP	G	G	A			TCGA-P5-A72Z-01A-11D-A32B-08	TCGA-P5-A72Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e35407-c89c-4456-ae75-ac1a5c654d4e	2cb82482-08eb-45d5-9002-c0470f357383	g.chr11:73105561G>A	ENST00000064780.2	+	9	1089	c.828G>A	c.(826-828)ccG>ccA	p.P276P	RELT_ENST00000393580.2_Silent_p.P276P	NM_152222.1	NP_689408.1	Q969Z4	TR19L_HUMAN	RELT tumor necrosis factor receptor	276						cytoplasm|integral to membrane|plasma membrane	binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	12						ACATCTGCCCGCACCGCCACC	0.706													4	122					0	0	1	0	0	A	73105561	G	A	73105561	2	1	365	1	0	0	0	0	0	0	0	1	13273	1074	38	1		1	RELT	11	73105561	Silent	SNP	G	TCGA-P5-A72Z-01A-11D-A32B-08	8411216	73105561	61900955	24	32132											
DSCAML1	57453	broad.mit.edu	37	11	117391914	117391914	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A72Z-01A-11D-A32B-08	TCGA-P5-A72Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e35407-c89c-4456-ae75-ac1a5c654d4e	2cb82482-08eb-45d5-9002-c0470f357383	g.chr11:117391914C>T	ENST00000321322.6	-	6	1325	c.1324G>A	c.(1324-1326)Ggg>Agg	p.G442R	DSCAML1_ENST00000527706.1_Missense_Mutation_p.G172R	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	382	Ig-like C2-type 5.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		TGGTAGGCCCCGGAATGGCTC	0.652													5	116					0	0	1	0	0	T	117391914	C	T	117391914	3	4	365	1	0	0	0	0	1	0	0	0	4795	652	23	1	5129	1	DSCAML1	11	117391914	Missense_Mutation	SNP	C	TCGA-P5-A72Z-01A-11D-A32B-08	44286353	117391914	17614602	25	32133											
MPHOSPH9	10198	broad.mit.edu	37	12	123687257	123687257	+	Silent	SNP	G	G	T			TCGA-P5-A72Z-01A-11D-A32B-08	TCGA-P5-A72Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e35407-c89c-4456-ae75-ac1a5c654d4e	2cb82482-08eb-45d5-9002-c0470f357383	g.chr12:123687257G>T	ENST00000606320.1	-	10	1901	c.1695C>A	c.(1693-1695)gtC>gtA	p.V565V	MPHOSPH9_ENST00000302349.5_Silent_p.V413V|MPHOSPH9_ENST00000392425.3_Silent_p.V413V|MPHOSPH9_ENST00000541076.2_Silent_p.V535V			Q99550	MPP9_HUMAN	M-phase phosphoprotein 9	413					M phase of mitotic cell cycle	centriole|Golgi membrane				NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(18)|prostate(2)|skin(1)	33	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000182)|Epithelial(86;0.00046)|BRCA - Breast invasive adenocarcinoma(302;0.169)		GGGACTGACTGACTGAGGCCG	0.433													3	54					6.4e-05	6.65098e-05	1	1	0	T	123687257	G	T	123687257	2	4	365	1	0	0	0	0	0	0	0	1	9777	1277	45	5		5	MPHOSPH9	12	123687257	Silent	SNP	G	TCGA-P5-A72Z-01A-11D-A32B-08		123687257	10164638	26	32134											
UBC	7316	broad.mit.edu	37	12	125397725	125397725	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A72Z-01A-11D-A32B-08	TCGA-P5-A72Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e35407-c89c-4456-ae75-ac1a5c654d4e	2cb82482-08eb-45d5-9002-c0470f357383	g.chr12:125397725G>A	ENST00000536769.1	-	1	2169	c.593C>T	c.(592-594)gCc>gTc	p.A198V	UBC_ENST00000546120.1_Missense_Mutation_p.A122V|UBC_ENST00000339647.5_Missense_Mutation_p.A198V|UBC_ENST00000538617.1_Intron			P0CG48	UBC_HUMAN	ubiquitin C	198	Ubiquitin-like 3.				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding			breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		CTGTTTTCCGGCAAAGATCAA	0.507													4	138					0	0	1	0	0	A	125397725	G	A	125397725	3	1	365	1	0	0	0	0	1	0	0	0	16903	1203	42	2	1468	2	UBC	12	125397725	Missense_Mutation	SNP	G	TCGA-P5-A72Z-01A-11D-A32B-08	1710468	125397725	8454170	27	32135											
FAM65A	79567	broad.mit.edu	37	16	67575592	67575592	+	Silent	SNP	T	T	G			TCGA-P5-A72Z-01A-11D-A32B-08	TCGA-P5-A72Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e35407-c89c-4456-ae75-ac1a5c654d4e	2cb82482-08eb-45d5-9002-c0470f357383	g.chr16:67575592T>G	ENST00000540839.3	+	13	1267	c.1047T>G	c.(1045-1047)tcT>tcG	p.S349S	FAM65A_ENST00000379312.3_Silent_p.S333S|FAM65A_ENST00000428437.2_Silent_p.S343S|FAM65A_ENST00000422602.2_Silent_p.S349S|FAM65A_ENST00000042381.4_Silent_p.S329S			Q6ZS17	FA65A_HUMAN	family with sequence similarity 65, member A	333						cytoplasm	binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)		CAGCTGCTTCTTCTGTCAACA	0.597													15	17					0	0	1	0	0	G	67575592	T	G	67575592	2	3	365	1	0	0	0	0	0	0	0	1	5634	1596	56	5		5	FAM65A	16	67575592	Silent	SNP	T	TCGA-P5-A72Z-01A-11D-A32B-08		67575592	22779161	28	32136											
KCNJ12	3768	broad.mit.edu	37	17	21318742	21318742	+	Missense_Mutation	SNP	G	G	A	rs150538033		TCGA-P5-A72Z-01A-11D-A32B-08	TCGA-P5-A72Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e35407-c89c-4456-ae75-ac1a5c654d4e	2cb82482-08eb-45d5-9002-c0470f357383	g.chr17:21318742G>A	ENST00000583088.1	+	3	983	c.88G>A	c.(88-90)Ggc>Agc	p.G30S	KCNJ12_ENST00000331718.5_Missense_Mutation_p.G30S	NM_021012.4	NP_066292.2			potassium inwardly-rectifying channel, subfamily J, member 12											NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)		GGGCGCCAACGGCTTCGGCAA	0.647										Prostate(3;0.18)			7	45					0	0	1	0	0	A	21318742	G	A	21318742	3	1	365	1	0	0	0	0	1	0	0	0	8090	1116	39	1	90	1	KCNJ12	17	21318742	Missense_Mutation	SNP	G	TCGA-P5-A72Z-01A-11D-A32B-08		21318742	59876468	29	32137											
WSB1	26118	broad.mit.edu	37	17	25631850	25631850	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A72Z-01A-11D-A32B-08	TCGA-P5-A72Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e35407-c89c-4456-ae75-ac1a5c654d4e	2cb82482-08eb-45d5-9002-c0470f357383	g.chr17:25631850G>A	ENST00000262394.2	+	4	839	c.523G>A	c.(523-525)Gat>Aat	p.D175N	WSB1_ENST00000581185.1_Missense_Mutation_p.D175N|WSB1_ENST00000579733.1_Missense_Mutation_p.D29N|WSB1_ENST00000583193.1_Intron|WSB1_ENST00000348811.2_Missense_Mutation_p.D29N|WSB1_ENST00000427287.2_Missense_Mutation_p.D144N	NM_015626.8	NP_056441.6	Q9Y6I7	WSB1_HUMAN	WD repeat and SOCS box containing 1	175					intracellular signal transduction	intracellular	protein binding			lung(3)	3	all_cancers(1;2e-13)|all_epithelial(1;4.8e-15)|Lung NSC(42;0.00152)		BRCA - Breast invasive adenocarcinoma(3;0.0152)	UCEC - Uterine corpus endometrioid carcinoma (53;0.154)		AGTGGTCAGAGATTTAACTTT	0.348													38	42					0	0	1	0	0	A	25631850	G	A	25631850	3	1	365	1	0	0	0	0	1	0	0	0	17464	942	33	2	537	2	WSB1	17	25631850	Missense_Mutation	SNP	G	TCGA-P5-A72Z-01A-11D-A32B-08	4313108	25631850	55563360	30	32138											
USHBP1	83878	broad.mit.edu	37	19	17362479	17362479	+	Missense_Mutation	SNP	G	G	A	rs139642055	byFrequency	TCGA-P5-A72Z-01A-11D-A32B-08	TCGA-P5-A72Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e35407-c89c-4456-ae75-ac1a5c654d4e	2cb82482-08eb-45d5-9002-c0470f357383	g.chr19:17362479G>A	ENST00000252597.3	-	12	2007	c.1834C>T	c.(1834-1836)Cgc>Tgc	p.R612C	USHBP1_ENST00000431146.2_Missense_Mutation_p.R548C|AC010646.3_ENST00000594059.1_5'UTR	NM_031941.3	NP_114147.2	Q8N6Y0	USBP1_HUMAN	Usher syndrome 1C binding protein 1	612							PDZ domain binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(10)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44						AGCTCCCTGCGCAGAGACTGC	0.602													38	34					0	0	1	0	0	A	17362479	G	A	17362479	3	1	365	1	0	0	0	0	1	0	0	0	17097	1087	38	1	285	1	USHBP1	19	17362479	Missense_Mutation	SNP	G	TCGA-P5-A72Z-01A-11D-A32B-08		17362479	41766504	31	32139											
ABHD8	79575	broad.mit.edu	37	19	17405266	17405266	+	Missense_Mutation	SNP	T	T	C			TCGA-P5-A72Z-01A-11D-A32B-08	TCGA-P5-A72Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e35407-c89c-4456-ae75-ac1a5c654d4e	2cb82482-08eb-45d5-9002-c0470f357383	g.chr19:17405266T>C	ENST00000247706.3	-	4	1219	c.980A>G	c.(979-981)gAg>gGg	p.E327G	MRPL34_ENST00000595444.1_Intron|MRPL34_ENST00000600434.1_Intron	NM_024527.4	NP_078803.4	Q96I13	ABHD8_HUMAN	abhydrolase domain containing 8	327							hydrolase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)|urinary_tract(1)	9						AGCGTTGCCCTCCTTTAACAG	0.647													11	79					0	0	1	0	0	C	17405266	T	C	17405266	3	2	365	1	0	0	0	0	1	0	0	0	87	1551	54	3	347	3	ABHD8	19	17405266	Missense_Mutation	SNP	T	TCGA-P5-A72Z-01A-11D-A32B-08	42787	17405266	41723717	32	32140											
CIC	23152	broad.mit.edu	37	19	42791805	42791805	+	Missense_Mutation	SNP	A	A	G			TCGA-P5-A72Z-01A-11D-A32B-08	TCGA-P5-A72Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e35407-c89c-4456-ae75-ac1a5c654d4e	2cb82482-08eb-45d5-9002-c0470f357383	g.chr19:42791805A>G	ENST00000572681.2	+	6	3486	c.3418A>G	c.(3418-3420)Agc>Ggc	p.S1140G	CIC_ENST00000575354.2_Missense_Mutation_p.S231G|CIC_ENST00000160740.3_Missense_Mutation_p.S231G			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	231	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CCGGACCGTCAGCAAGATCCT	0.622			"Mis, F, S"		oligodendroglioma								32	2					0	0	1	0	0	G	42791805	A	G	42791805	3	3	365	1	0	0	0	0	1	0	0	0	3446	188	7	3	709	3	CIC	19	42791805	Missense_Mutation	SNP	A	TCGA-P5-A72Z-01A-11D-A32B-08	25386539	42791805	16337178	33	32141											
NLRP2	55655	broad.mit.edu	37	19	55494451	55494451	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A72Z-01A-11D-A32B-08	TCGA-P5-A72Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e35407-c89c-4456-ae75-ac1a5c654d4e	2cb82482-08eb-45d5-9002-c0470f357383	g.chr19:55494451C>T	ENST00000543010.1	+	6	1528	c.1385C>T	c.(1384-1386)aCg>aTg	p.T462M	NLRP2_ENST00000537859.1_Missense_Mutation_p.T440M|NLRP2_ENST00000339757.7_Missense_Mutation_p.T440M|NLRP2_ENST00000263437.6_Missense_Mutation_p.T459M|NLRP2_ENST00000427260.2_Missense_Mutation_p.T439M|NLRP2_ENST00000391721.4_Missense_Mutation_p.T438M|NLRP2_ENST00000448584.2_Missense_Mutation_p.T462M|NLRP2_ENST00000538819.1_Missense_Mutation_p.T438M	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	462	NACHT.				apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		TGGGCGCAGACGTCCGTGCTT	0.687													32	2					0	0	1	0	0	T	55494451	C	T	55494451	3	4	365	1	0	0	0	0	1	0	0	0	10524	536	19	1	1403	1	NLRP2	19	55494451	Missense_Mutation	SNP	C	TCGA-P5-A72Z-01A-11D-A32B-08	12702646	55494451	3634532	34	32142											
MYH7B	57644	broad.mit.edu	37	20	33574784	33574784	+	Missense_Mutation	SNP	G	G	A	rs115275866	by1000genomes	TCGA-P5-A72Z-01A-11D-A32B-08	TCGA-P5-A72Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e35407-c89c-4456-ae75-ac1a5c654d4e	2cb82482-08eb-45d5-9002-c0470f357383	g.chr20:33574784G>A	ENST00000262873.7	+	13	1218	c.1126G>A	c.(1126-1128)Gcc>Acc	p.A376T		NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	334	Myosin head-like.					membrane|myosin filament	actin binding|ATP binding|motor activity			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			GGAGCTCATCGCCACCGACGT	0.607													17	28					0	0	1	0	0	A	33574784	G	A	33574784	3	1	365	1	0	0	0	0	1	0	0	0	10088	1087	38	1	1176	1	MYH7B	20	33574784	Missense_Mutation	SNP	G	TCGA-P5-A72Z-01A-11D-A32B-08		33574784	29450736	35	32143											
SRMS	6725	broad.mit.edu	37	20	62172684	62172684	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A72Z-01A-11D-A32B-08	TCGA-P5-A72Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e35407-c89c-4456-ae75-ac1a5c654d4e	2cb82482-08eb-45d5-9002-c0470f357383	g.chr20:62172684G>A	ENST00000217188.1	-	7	1185	c.1145C>T	c.(1144-1146)cCg>cTg	p.P382L		NM_080823.2	NP_543013.1	Q9H3Y6	SRMS_HUMAN	src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites	382	Protein kinase.						ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|stomach(1)	19	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)			GCTGCTGCTCGGGGAGTAGAT	0.662													54	83					0	0	1	0	0	A	62172684	G	A	62172684	3	1	365	1	0	0	0	0	1	0	0	0	15208	1116	39	1	329	1	SRMS	20	62172684	Missense_Mutation	SNP	G	TCGA-P5-A72Z-01A-11D-A32B-08	28597900	62172684	852836	36	32144											
KRTAP21-1	337977	broad.mit.edu	37	21	32127495	32127495	+	Missense_Mutation	SNP	G	G	A	rs149639659	by1000genomes	TCGA-P5-A72Z-01A-11D-A32B-08	TCGA-P5-A72Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e35407-c89c-4456-ae75-ac1a5c654d4e	2cb82482-08eb-45d5-9002-c0470f357383	g.chr21:32127495G>A	ENST00000335093.3	-	1	251	c.202C>T	c.(202-204)Cgg>Tgg	p.R68W		NM_181619.1	NP_853650.1	Q3LI58	KR211_HUMAN	keratin associated protein 21-1	68						intermediate filament				breast(1)|endometrium(1)|lung(4)|urinary_tract(1)	7						CAAAATGGCCGGTAGCCACAG	0.478													10	198					0	0	1	0	0	A	32127495	G	A	32127495	3	1	365	1	0	0	0	0	1	0	0	0	8581	1115	39	1	39	1	KRTAP21-1	21	32127495	Missense_Mutation	SNP	G	TCGA-P5-A72Z-01A-11D-A32B-08		32127495	16002400	37	32145											
ACOT9	23597	broad.mit.edu	37	X	23723125	23723125	+	Silent	SNP	G	G	A			TCGA-P5-A72Z-01A-11D-A32B-08	TCGA-P5-A72Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e35407-c89c-4456-ae75-ac1a5c654d4e	2cb82482-08eb-45d5-9002-c0470f357383	g.chrX:23723125G>A	ENST00000379303.5	-	14	1220	c.1092C>T	c.(1090-1092)ctC>ctT	p.L364L	ACOT9_ENST00000379295.1_Silent_p.L295L|ACOT9_ENST00000336430.7_Silent_p.L355L	NM_001037171.1	NP_001032248.1	Q9Y305	ACOT9_HUMAN	acyl-CoA thioesterase 9	355					acyl-CoA metabolic process	mitochondrion	acetyl-CoA hydrolase activity|carboxylesterase activity			breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(4)|pancreas(1)|skin(1)	15						AAGAAAGAAAGAGCAATGAGC	0.413													16	74					0	0	1	0	0	A	23723125	G	A	23723125	2	1	365	1	0	0	0	0	0	0	0	1	157	929	33	2		2	ACOT9	23	23723125	Silent	SNP	G	TCGA-P5-A72Z-01A-11D-A32B-08		23723125	131547435	38	32146											
KDM5C	8242	broad.mit.edu	37	X	53226063	53226063	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A72Z-01A-11D-A32B-08	TCGA-P5-A72Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e35407-c89c-4456-ae75-ac1a5c654d4e	2cb82482-08eb-45d5-9002-c0470f357383	g.chrX:53226063C>T	ENST00000452825.3	-	17	3117	c.2585G>A	c.(2584-2586)cGa>cAa	p.R862Q	KDM5C_ENST00000375383.3_Missense_Mutation_p.R888Q|KDM5C_ENST00000375401.3_Missense_Mutation_p.R929Q|KDM5C_ENST00000375379.3_Missense_Mutation_p.R929Q|KDM5C_ENST00000404049.3_Missense_Mutation_p.R928Q	NM_001146702.1	NP_001140174.1	P41229	KDM5C_HUMAN	lysine (K)-specific demethylase 5C	929					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2)	82						ATCCAGCCATCGCGCCTGTTC	0.672			"N, F, S"		clear cell renal carcinoma								5	10					0	0	1	0	0	T	53226063	C	T	53226063	3	4	365	1	0	0	0	0	1	0	0	0	8178	884	31	1	2026	1	KDM5C	23	53226063	Missense_Mutation	SNP	C	TCGA-P5-A72Z-01A-11D-A32B-08	29502938	53226063	102044497	39	32147											
PDZD4	57595	broad.mit.edu	37	X	153068982	153068982	+	Silent	SNP	G	G	A			TCGA-P5-A72Z-01A-11D-A32B-08	TCGA-P5-A72Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e35407-c89c-4456-ae75-ac1a5c654d4e	2cb82482-08eb-45d5-9002-c0470f357383	g.chrX:153068982G>A	ENST00000164640.4	-	8	2327	c.2136C>T	c.(2134-2136)ggC>ggT	p.G712G	PDZD4_ENST00000393758.2_Silent_p.G637G|PDZD4_ENST00000544474.1_Silent_p.G603G	NM_032512.2	NP_115901.2	Q76G19	PDZD4_HUMAN	PDZ domain containing 4	712						cell cortex				breast(3)|cervix(1)|endometrium(5)|lung(13)|skin(1)	23	all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GCTTGCTGTCGCCATTCTGCT	0.602													26	60					0	0	1	0	0	A	153068982	G	A	153068982	2	1	365	1	0	0	0	0	0	0	0	1	11750	1074	38	1		1	PDZD4	23	153068982	Silent	SNP	G	TCGA-P5-A72Z-01A-11D-A32B-08	99842919	153068982	2201578	40	32148											
ADAM15	8751	broad.mit.edu	37	1	155034402	155034402	+	Missense_Mutation	SNP	A	A	G			TCGA-P5-A730-01A-11D-A32B-08	TCGA-P5-A730-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be88dff-3e17-4c99-a334-a9cc7c045ba2	c6b43adc-7b1f-44df-bea6-9448d31209c4	g.chr1:155034402A>G	ENST00000356955.2	+	21	2476	c.2375A>G	c.(2374-2376)aAt>aGt	p.N792S	ADAM15_ENST00000271836.6_Intron|ADAM15_ENST00000368410.2_Intron|ADAM15_ENST00000360674.4_Intron|ADAM15_ENST00000368412.3_Intron|ADAM15_ENST00000531455.1_Intron|ADAM15_ENST00000355956.2_Intron|ADAM15_ENST00000359280.4_Missense_Mutation_p.N767S|ADAM15_ENST00000472434.1_3'UTR|ADAM15_ENST00000368413.1_Intron|ADAM15_ENST00000449910.2_Missense_Mutation_p.N791S	NM_207197.2	NP_997080.1	Q13444	ADA15_HUMAN	ADAM metallopeptidase domain 15	792					angiogenesis|cell-matrix adhesion|collagen catabolic process|proteolysis	acrosomal vesicle|adherens junction|endomembrane system|flagellum|integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(5)|urinary_tract(1)	39	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			GACCGACCCAATCCCCCTACC	0.647											OREG0013848	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	63	82					0	0	1	0	0	G	155034402	A	G	155034402	3	3	366	1	0	0	0	0	1	0	0	0	236	101	4	3	2457	3	ADAM15	1	155034402	Missense_Mutation	SNP	A	TCGA-P5-A730-01A-11D-A32B-08		155034402	94216219	1	32149											
OR2T11	127077	broad.mit.edu	37	1	248789593	248789593	+	Silent	SNP	C	C	T			TCGA-P5-A730-01A-11D-A32B-08	TCGA-P5-A730-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be88dff-3e17-4c99-a334-a9cc7c045ba2	c6b43adc-7b1f-44df-bea6-9448d31209c4	g.chr1:248789593C>T	ENST00000330803.2	-	1	898	c.837G>A	c.(835-837)acG>acA	p.T279T		NM_001001964.1	NP_001001964.1	Q8NH01	O2T11_HUMAN	olfactory receptor, family 2, subfamily T, member 11 (gene/pseudogene)	279					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(5)|lung(20)|skin(2)	28	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TAAGCATGGGCGTGACAATGG	0.488													13	58					0	0	1	0	0	T	248789593	C	T	248789593	2	4	366	1	0	0	0	0	0	0	0	1	11066	755	27	1		1	OR2T11	1	248789593	Silent	SNP	C	TCGA-P5-A730-01A-11D-A32B-08	93755191	248789593	461028	2	32150											
VWA3B	200403	broad.mit.edu	37	2	98928369	98928369	+	Missense_Mutation	SNP	G	G	T			TCGA-P5-A730-01A-11D-A32B-08	TCGA-P5-A730-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be88dff-3e17-4c99-a334-a9cc7c045ba2	c6b43adc-7b1f-44df-bea6-9448d31209c4	g.chr2:98928369G>T	ENST00000477737.1	+	27	3813	c.3609G>T	c.(3607-3609)gaG>gaT	p.E1203D	VWA3B_ENST00000490947.2_3'UTR	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	1203										NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						CAAGACGAGAGAAGCCCAGGA	0.612													3	9					0.150653	0.150653	1	1	0	T	98928369	G	T	98928369	3	4	366	1	0	0	0	0	1	0	0	0	17301	933	33	4	3711	4	VWA3B	2	98928369	Missense_Mutation	SNP	G	TCGA-P5-A730-01A-11D-A32B-08		98928369	144271004	3	32151											
C3orf30	152405	broad.mit.edu	37	3	118865903	118865903	+	Silent	SNP	G	G	A			TCGA-P5-A730-01A-11D-A32B-08	TCGA-P5-A730-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be88dff-3e17-4c99-a334-a9cc7c045ba2	c6b43adc-7b1f-44df-bea6-9448d31209c4	g.chr3:118865903G>A	ENST00000295622.1	+	1	907	c.867G>A	c.(865-867)caG>caA	p.Q289Q		NM_152539.2	NP_689752.2	Q96M34	CC030_HUMAN	chromosome 3 open reading frame 30	289										NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(20)|ovary(2)|prostate(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(114;0.222)		CTTCTGAGCAGACTGACCTCA	0.493													3	42					0	0	1	0	0	A	118865903	G	A	118865903	2	1	366	1	0	0	0	0	0	0	0	1	2234	933	33	2		2	C3orf30	3	118865903	Silent	SNP	G	TCGA-P5-A730-01A-11D-A32B-08		118865903	79156527	4	32152											
EAF2	55840	broad.mit.edu	37	3	121554193	121554193	+	Nonsense_Mutation	SNP	G	G	T			TCGA-P5-A730-01A-11D-A32B-08	TCGA-P5-A730-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be88dff-3e17-4c99-a334-a9cc7c045ba2	c6b43adc-7b1f-44df-bea6-9448d31209c4	g.chr3:121554193G>T	ENST00000273668.2	+	1	132	c.61G>T	c.(61-63)Gag>Tag	p.E21*	EAF2_ENST00000451944.2_Nonsense_Mutation_p.E21*|EAF2_ENST00000465664.1_3'UTR	NM_018456.4	NP_060926.2	Q96CJ1	EAF2_HUMAN	ELL associated factor 2	21	Necessary for interaction with ELL.				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	protein binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)	9				GBM - Glioblastoma multiforme(114;0.0972)		CAAGTTAGGGGAGAGTTTCGA	0.592													12	18					5.50884e-06	5.85314e-06	1	1	0	T	121554193	G	T	121554193	4	4	366	1	0	0	0	0	0	1	0	0	4902	1175	41	5	63	5	EAF2	3	121554193	Nonsense_Mutation	SNP	G	TCGA-P5-A730-01A-11D-A32B-08	2688290	121554193	76468237	5	32153											
NDST3	9348	broad.mit.edu	37	4	118975673	118975673	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A730-01A-11D-A32B-08	TCGA-P5-A730-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be88dff-3e17-4c99-a334-a9cc7c045ba2	c6b43adc-7b1f-44df-bea6-9448d31209c4	g.chr4:118975673G>A	ENST00000296499.5	+	2	1011	c.608G>A	c.(607-609)cGt>cAt	p.R203H	NDST3_ENST00000433996.2_Missense_Mutation_p.R203H	NM_004784.2	NP_004775.1	O95803	NDST3_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3	203	Heparan sulfate N-deacetylase 3.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						CCATTGATTCGTGTGACCAAA	0.358													56	79					0	0	1	0	0	A	118975673	G	A	118975673	3	1	366	1	0	0	0	0	1	0	0	0	10304	1145	40	1	610	1	NDST3	4	118975673	Missense_Mutation	SNP	G	TCGA-P5-A730-01A-11D-A32B-08		118975673	72178603	6	32154											
NIPBL	25836	broad.mit.edu	37	5	36961653	36961653	+	Nonsense_Mutation	SNP	T	T	A			TCGA-P5-A730-01A-11D-A32B-08	TCGA-P5-A730-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be88dff-3e17-4c99-a334-a9cc7c045ba2	c6b43adc-7b1f-44df-bea6-9448d31209c4	g.chr5:36961653T>A	ENST00000282516.8	+	5	925	c.426T>A	c.(424-426)taT>taA	p.Y142*	NIPBL_ENST00000504430.1_3'UTR|NIPBL_ENST00000448238.2_Nonsense_Mutation_p.Y142*	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	142					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			CTTCCAATTATCAACAAACCA	0.333													35	52					0	0	1	0	0	A	36961653	T	A	36961653	4	1	366	1	0	0	0	0	0	1	0	0	10475	1442	50	4	440	4	NIPBL	5	36961653	Nonsense_Mutation	SNP	T	TCGA-P5-A730-01A-11D-A32B-08		36961653	143953607	7	32155											
GPR98	84059	broad.mit.edu	37	5	89924557	89924557	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A730-01A-11D-A32B-08	TCGA-P5-A730-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be88dff-3e17-4c99-a334-a9cc7c045ba2	c6b43adc-7b1f-44df-bea6-9448d31209c4	g.chr5:89924557G>A	ENST00000405460.2	+	8	1513	c.1417G>A	c.(1417-1419)Gat>Aat	p.D473N		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	473	Calx-beta 4.				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TACTGTGGTTGATGATGATCT	0.478													20	55					0	0	1	0	0	A	89924557	G	A	89924557	3	1	366	1	0	0	0	0	1	0	0	0	6762	1290	45	2	1447	2	GPR98	5	89924557	Missense_Mutation	SNP	G	TCGA-P5-A730-01A-11D-A32B-08	52962904	89924557	90990703	8	32156											
SYNPO	11346	broad.mit.edu	37	5	150036401	150036401	+	Frame_Shift_Del	DEL	C	C	-			TCGA-P5-A730-01A-11D-A32B-08	TCGA-P5-A730-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be88dff-3e17-4c99-a334-a9cc7c045ba2	c6b43adc-7b1f-44df-bea6-9448d31209c4	g.chr5:150036401delC	ENST00000307662.4	+	3	2993	c.2464delC	c.(2464-2466)cccfs	p.P822fs		NM_007286.5	NP_009217.3	Q8N3V7	SYNPO_HUMAN	synaptopodin	878	Pro-rich.				positive regulation of actin filament bundle assembly|regulation of stress fiber assembly	actin cytoskeleton|cytoplasm|dendritic spine|perikaryon|postsynaptic density|postsynaptic membrane|tight junction	actin binding|protein binding			NS(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(4)|prostate(1)|urinary_tract(2)	18		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGCCTTCGCGCCCATCCCGCG	0.821													2	4	---	---	---	---						-	150036401	C	-	150036401	7	5	366	1	0	1	0	1	0	0	0	0	15513	739	26	0	3236	0	SYNPO	5	150036401	Frame_Shift_Del	DEL	C	TCGA-P5-A730-01A-11D-A32B-08	60111844	150036401	30878859	9	32157											
DDX41	51428	broad.mit.edu	37	5	176940447	176940447	+	Silent	SNP	C	C	T	rs144382614		TCGA-P5-A730-01A-11D-A32B-08	TCGA-P5-A730-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be88dff-3e17-4c99-a334-a9cc7c045ba2	c6b43adc-7b1f-44df-bea6-9448d31209c4	g.chr5:176940447C>T	ENST00000507955.1	-	11	1660	c.1137G>A	c.(1135-1137)ccG>ccA	p.P379P		NM_016222.2	NP_057306.2	Q9UJV9	DDX41_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 41	379	Helicase ATP-binding.				apoptosis|multicellular organismal development	catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding|zinc ion binding					all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191)			GAATCTTCTTCGGCATGGTGG	0.617													81	130					0	0	1	0	0	T	176940447	C	T	176940447	2	4	366	1	0	0	0	0	0	0	0	1	4384	871	31	1		1	DDX41	5	176940447	Silent	SNP	C	TCGA-P5-A730-01A-11D-A32B-08	26904046	176940447	3974813	10	32158											
LRRC16A	55604	broad.mit.edu	37	6	25450191	25450191	+	Missense_Mutation	SNP	A	A	G			TCGA-P5-A730-01A-11D-A32B-08	TCGA-P5-A730-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be88dff-3e17-4c99-a334-a9cc7c045ba2	c6b43adc-7b1f-44df-bea6-9448d31209c4	g.chr6:25450191A>G	ENST00000329474.6	+	6	805	c.437A>G	c.(436-438)gAc>gGc	p.D146G	LRRC16A_ENST00000377969.3_5'UTR	NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN	leucine rich repeat containing 16A	146					actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process	cytosol|lamellipodium|nucleus				breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						GCGCTGTGGGACAGCCAGACC	0.498													14	16					0	0	1	0	0	G	25450191	A	G	25450191	3	3	366	1	0	0	0	0	1	0	0	0	9016	275	10	3	459	3	LRRC16A	6	25450191	Missense_Mutation	SNP	A	TCGA-P5-A730-01A-11D-A32B-08		25450191	145664876	11	32159											
TNFAIP3	7128	broad.mit.edu	37	6	138195987	138195987	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A730-01A-11D-A32B-08	TCGA-P5-A730-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be88dff-3e17-4c99-a334-a9cc7c045ba2	c6b43adc-7b1f-44df-bea6-9448d31209c4	g.chr6:138195987G>A	ENST00000237289.4	+	3	367	c.301G>A	c.(301-303)Ggc>Agc	p.G101S		NM_001270507.1|NM_001270508.1|NM_006290.3	NP_001257436.1|NP_001257437.1|NP_006281.1	P21580	TNAP3_HUMAN	tumor necrosis factor, alpha-induced protein 3	101	OTU.|TRAF-binding.				anti-apoptosis|apoptosis|B-1 B cell homeostasis|negative regulation of B cell activation|negative regulation of bone resorption|negative regulation of CD40 signaling pathway|negative regulation of endothelial cell apoptosis|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of inflammatory response|negative regulation of interleukin-2 production|negative regulation of interleukin-6 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of osteoclast proliferation|negative regulation of protein ubiquitination|negative regulation of smooth muscle cell proliferation|negative regulation of toll-like receptor 2 signaling pathway|negative regulation of toll-like receptor 3 signaling pathway|negative regulation of tumor necrosis factor production|negative regulation of type I interferon production|positive regulation of protein catabolic process|protein K48-linked ubiquitination|protein K63-linked deubiquitination|protein oligomerization|regulation of defense response to virus by host|regulation of germinal center formation|regulation of vascular wound healing|tolerance induction to lipopolysaccharide	centrosome|cytosol|nucleus	caspase inhibitor activity|DNA binding|protease binding|protein self-association|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-protein ligase activity|ubiquitin-specific protease activity|zinc ion binding	p.0?(25)|p.G101fs*38(1)		breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(196)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	225	Breast(32;0.135)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000849)|OV - Ovarian serous cystadenocarcinoma(155;0.00468)		CTCAGGTGACGGCAATTGCCT	0.488			"D, N, F"		"marginal zone B-cell lymphomas, Hodgkin's lymphoma, primary mediastinal B cell lymphoma"								3	58					0	0	1	0	0	A	138195987	G	A	138195987	3	1	366	1	0	0	0	0	1	0	0	0	16334	1116	39	1	307	1	TNFAIP3	6	138195987	Missense_Mutation	SNP	G	TCGA-P5-A730-01A-11D-A32B-08	112745796	138195987	32919080	12	32160											
BUD31	8896	broad.mit.edu	37	7	99015057	99015058	+	Frame_Shift_Del	DEL	TA	TA	-			TCGA-P5-A730-01A-11D-A32B-08	TCGA-P5-A730-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be88dff-3e17-4c99-a334-a9cc7c045ba2	c6b43adc-7b1f-44df-bea6-9448d31209c4	g.chr7:99015057_99015058delTA	ENST00000403633.2	+	5	752_753	c.223_224delTA	c.(223-225)tatfs	p.Y75fs	BUD31_ENST00000431419.1_Frame_Shift_Del_p.Y46fs|BUD31_ENST00000222969.5_Frame_Shift_Del_p.Y75fs|BUD31_ENST00000456893.1_Frame_Shift_Del_p.Y34fs|PTCD1_ENST00000292478.4_3'UTR			P41223	BUD31_HUMAN	BUD31 homolog (S. cerevisiae)	75				YEYCI -> LDICY (in Ref. 1; AAA20008).	regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity			autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|ovary(1)	4	all_cancers(62;1.76e-08)|all_epithelial(64;1.63e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)			GACAGAACTCTATGAATATTGT	0.436													14	37	---	---	---	---						-	99015058	TA	-	99015057	7	5	366	1	0	1	0	1	0	0	0	0	1577	1522	53	0	233	0	BUD31	7	99015057	Frame_Shift_Del	DEL	TA	TCGA-P5-A730-01A-11D-A32B-08		99015057	60123606	13	32161											
MCM7	4176	broad.mit.edu	37	7	99697010	99697010	+	Missense_Mutation	SNP	A	A	C			TCGA-P5-A730-01A-11D-A32B-08	TCGA-P5-A730-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be88dff-3e17-4c99-a334-a9cc7c045ba2	c6b43adc-7b1f-44df-bea6-9448d31209c4	g.chr7:99697010A>C	ENST00000303887.5	-	4	938	c.293T>G	c.(292-294)gTc>gGc	p.V98G	MCM7_ENST00000343023.6_Missense_Mutation_p.V98G|MCM7_ENST00000354230.3_5'UTR	NM_005916.3	NP_005907.3	P33993	MCM7_HUMAN	minichromosome maintenance complex component 7	98					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of phosphorylation|response to DNA damage stimulus|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|protein binding			endometrium(1)|kidney(5)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	17	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)				Atorvastatin(DB01076)	AACGTCCAGGACATCTTTATT	0.488													26	36					0	0	1	0	0	C	99697010	A	C	99697010	3	2	366	1	0	0	0	0	1	0	0	0	9442	275	10	5	1914	5	MCM7	7	99697010	Missense_Mutation	SNP	A	TCGA-P5-A730-01A-11D-A32B-08	681953	99697010	59441653	14	32162											
MDFIC	29969	broad.mit.edu	37	7	114655883	114655883	+	Missense_Mutation	SNP	G	G	T			TCGA-P5-A730-01A-11D-A32B-08	TCGA-P5-A730-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be88dff-3e17-4c99-a334-a9cc7c045ba2	c6b43adc-7b1f-44df-bea6-9448d31209c4	g.chr7:114655883G>T	ENST00000257724.3	+	5	1225	c.962G>T	c.(961-963)tGt>tTt	p.C321F	MDFIC_ENST00000393486.1_Missense_Mutation_p.C212F			Q9P1T7	MDFIC_HUMAN	MyoD family inhibitor domain containing	212					activation of JUN kinase activity|interspecies interaction between organisms|negative regulation of protein import into nucleus|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|regulation of Wnt receptor signaling pathway|transcription, DNA-dependent	cytoplasm|nucleolus|nucleus	cyclin binding|Tat protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	8						GGGGATGATTGTAACTGCCCT	0.488													26	199					3.6726e-16	4.02802e-16	1	1	0	T	114655883	G	T	114655883	3	4	366	1	0	0	0	0	1	0	0	0	9455	1377	48	5	1022	5	MDFIC	7	114655883	Missense_Mutation	SNP	G	TCGA-P5-A730-01A-11D-A32B-08	14958873	114655883	44482780	15	32163											
PAX4	5078	broad.mit.edu	37	7	127255074	127255074	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A730-01A-11D-A32B-08	TCGA-P5-A730-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be88dff-3e17-4c99-a334-a9cc7c045ba2	c6b43adc-7b1f-44df-bea6-9448d31209c4	g.chr7:127255074C>T	ENST00000341640.2	-	2	401	c.196G>A	c.(196-198)Gga>Aga	p.G66R	PAX4_ENST00000338516.3_Missense_Mutation_p.G74R|PAX4_ENST00000463946.1_Missense_Mutation_p.G64R|PAX4_ENST00000378740.2_Missense_Mutation_p.G66R	NM_006193.2	NP_006184.2	O43316	PAX4_HUMAN	paired box 4	74	Paired.				cell differentiation|endocrine pancreas development|organ morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|kidney(2)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						GGCTTGCTTCCCCCAATGCCC	0.577													7	70					0	0	1	0	0	T	127255074	C	T	127255074	3	4	366	1	0	0	0	0	1	0	0	0	11528	632	22	2	867	2	PAX4	7	127255074	Missense_Mutation	SNP	C	TCGA-P5-A730-01A-11D-A32B-08	12599191	127255074	31883589	16	32164											
PNMA2	10687	broad.mit.edu	37	8	26365638	26365638	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A730-01A-11D-A32B-08	TCGA-P5-A730-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be88dff-3e17-4c99-a334-a9cc7c045ba2	c6b43adc-7b1f-44df-bea6-9448d31209c4	g.chr8:26365638C>T	ENST00000522362.2	-	3	1528	c.634G>A	c.(634-636)Ggc>Agc	p.G212S		NM_007257.5	NP_009188.1	Q9UL42	PNMA2_HUMAN	paraneoplastic Ma antigen 2	212					apoptosis	nucleolus	protein binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)	11		all_cancers(63;0.109)|Ovarian(32;2.61e-05)|all_epithelial(46;0.105)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0196)|Epithelial(17;3.13e-11)|Colorectal(74;0.123)		agggcagggccccgcaggctt	0.542													6	100					0	0	1	0	0	T	26365638	C	T	26365638	3	4	366	1	0	0	0	0	1	0	0	0	12202	623	22	2	464	2	PNMA2	8	26365638	Missense_Mutation	SNP	C	TCGA-P5-A730-01A-11D-A32B-08		26365638	119998384	17	32165											
MAK16	84549	broad.mit.edu	37	8	33346581	33346581	+	Nonsense_Mutation	SNP	C	C	T			TCGA-P5-A730-01A-11D-A32B-08	TCGA-P5-A730-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be88dff-3e17-4c99-a334-a9cc7c045ba2	c6b43adc-7b1f-44df-bea6-9448d31209c4	g.chr8:33346581C>T	ENST00000360128.6	+	5	773	c.316C>T	c.(316-318)Cga>Tga	p.R106*	TTI2_ENST00000519356.1_Intron	NM_032509.3	NP_115898.2	Q9BXY0	MAK16_HUMAN	MAK16 homolog (S. cerevisiae)	106						nucleolus				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|urinary_tract(1)	8						CCGTTTCATTCGACACAAATG	0.373													26	48					0	0	1	0	0	T	33346581	C	T	33346581	4	4	366	1	0	0	0	0	0	1	0	0	9248	876	31	1	334	1	MAK16	8	33346581	Nonsense_Mutation	SNP	C	TCGA-P5-A730-01A-11D-A32B-08	6980943	33346581	113017441	18	32166											
MARCH8	220972	broad.mit.edu	37	10	45953818	45953818	+	Missense_Mutation	SNP	T	T	C			TCGA-P5-A730-01A-11D-A32B-08	TCGA-P5-A730-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be88dff-3e17-4c99-a334-a9cc7c045ba2	c6b43adc-7b1f-44df-bea6-9448d31209c4	g.chr10:45953818T>C	ENST00000453424.2	-	8	1852	c.1591A>G	c.(1591-1593)Att>Gtt	p.I531V	MARCH8_ENST00000395769.2_Missense_Mutation_p.I249V|MARCH8_ENST00000476962.1_5'UTR|MARCH8_ENST00000395771.3_Missense_Mutation_p.I249V|MARCH8_ENST00000319836.3_Missense_Mutation_p.I249V	NM_001282866.1	NP_001269795.1	Q5T0T0	MARH8_HUMAN	membrane-associated ring finger (C3HC4) 8, E3 ubiquitin protein ligase	249						cytoplasmic vesicle membrane|early endosome membrane|integral to membrane|lysosomal membrane	ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(5)|lung(4)	12						TTTTCAAAAATATTCTTTTTG	0.368													16	137					0	0	1	0	0	C	45953818	T	C	45953818	3	2	366	1	0	0	0	0	1	0	0	0	9357	1406	49	3	134	3	MARCH8	10	45953818	Missense_Mutation	SNP	T	TCGA-P5-A730-01A-11D-A32B-08		45953818	89580929	19	32167											
NLRP10	338322	broad.mit.edu	37	11	7981342	7981342	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A730-01A-11D-A32B-08	TCGA-P5-A730-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be88dff-3e17-4c99-a334-a9cc7c045ba2	c6b43adc-7b1f-44df-bea6-9448d31209c4	g.chr11:7981342C>T	ENST00000328600.2	-	2	1978	c.1817G>A	c.(1816-1818)aGc>aAc	p.S606N		NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	606							ATP binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		ACTCAAGCTGCTTTTGACAGA	0.368													23	40					0	0	1	0	0	T	7981342	C	T	7981342	3	4	366	1	0	0	0	0	1	0	0	0	10519	797	28	2	154	2	NLRP10	11	7981342	Missense_Mutation	SNP	C	TCGA-P5-A730-01A-11D-A32B-08		7981342	127025174	20	32168											
KIF18A	81930	broad.mit.edu	37	11	28098686	28098686	+	Missense_Mutation	SNP	C	C	G			TCGA-P5-A730-01A-11D-A32B-08	TCGA-P5-A730-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be88dff-3e17-4c99-a334-a9cc7c045ba2	c6b43adc-7b1f-44df-bea6-9448d31209c4	g.chr11:28098686C>G	ENST00000263181.6	-	10	1583	c.1293G>C	c.(1291-1293)caG>caC	p.Q431H		NM_031217.3	NP_112494.3	Q8NI77	KI18A_HUMAN	kinesin family member 18A	431					blood coagulation|microtubule depolymerization|microtubule-based movement|mitotic metaphase plate congression|mitotic prometaphase|protein transport	caveola|cytosol|kinetochore microtubule|microtubule organizing center|nucleus|ruffle	actin binding|ATP binding|microtubule plus-end binding|plus-end-directed microtubule motor activity|tubulin-dependent ATPase activity|ubiquitin binding			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	36						CTTCTCGATTCTGGAACAAGC	0.303													5	79					0	0	1	0	0	G	28098686	C	G	28098686	3	3	366	1	0	0	0	0	1	0	0	0	8322	912	32	4	1435	4	KIF18A	11	28098686	Missense_Mutation	SNP	C	TCGA-P5-A730-01A-11D-A32B-08	20117344	28098686	106907830	21	32169											
RAG1	5896	broad.mit.edu	37	11	36595107	36595107	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A730-01A-11D-A32B-08	TCGA-P5-A730-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be88dff-3e17-4c99-a334-a9cc7c045ba2	c6b43adc-7b1f-44df-bea6-9448d31209c4	g.chr11:36595107C>T	ENST00000299440.5	+	2	365	c.253C>T	c.(253-255)Cct>Tct	p.P85S		NM_000448.2	NP_000439	P15918	RAG1_HUMAN	recombination activating gene 1	85	Interaction with importin alpha-1.				histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				AAAAGCCCACCCTAAGTTTTC	0.488									Familial Hemophagocytic Lymphohistiocytosis				23	56					0	0	1	0	0	T	36595107	C	T	36595107	3	4	366	1	0	0	0	0	1	0	0	0	13055	623	22	2	255	2	RAG1	11	36595107	Missense_Mutation	SNP	C	TCGA-P5-A730-01A-11D-A32B-08	8496421	36595107	98411409	22	32170											
ARHGEF12	23365	broad.mit.edu	37	11	120350735	120350735	+	Nonsense_Mutation	SNP	G	G	A			TCGA-P5-A730-01A-11D-A32B-08	TCGA-P5-A730-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be88dff-3e17-4c99-a334-a9cc7c045ba2	c6b43adc-7b1f-44df-bea6-9448d31209c4	g.chr11:120350735G>A	ENST00000397843.2	+	38	3999	c.3833G>A	c.(3832-3834)tGg>tAg	p.W1278*	ARHGEF12_ENST00000356641.3_Nonsense_Mutation_p.W1259*|ARHGEF12_ENST00000532993.1_Nonsense_Mutation_p.W1175*	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	1278					apoptosis|axon guidance|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		CAGGAAGACTGGCAACATTTC	0.463			T	MLL	AML								30	100					0	0	1	0	0	A	120350735	G	A	120350735	4	1	366	1	0	0	0	0	0	1	0	0	894	1357	47	2	3983	2	ARHGEF12	11	120350735	Nonsense_Mutation	SNP	G	TCGA-P5-A730-01A-11D-A32B-08	83755628	120350735	14655781	23	32171											
IDH2	3418	broad.mit.edu	37	15	90631838	90631838	+	Missense_Mutation	SNP	C	C	T	rs121913503		TCGA-P5-A730-01A-11D-A32B-08	TCGA-P5-A730-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be88dff-3e17-4c99-a334-a9cc7c045ba2	c6b43adc-7b1f-44df-bea6-9448d31209c4	g.chr15:90631838C>T	ENST00000330062.3	-	4	628	c.515G>A	c.(514-516)aGg>aAg	p.R172K	IDH2_ENST00000559482.1_Intron|IDH2_ENST00000539790.1_Missense_Mutation_p.R42K|IDH2_ENST00000540499.2_Missense_Mutation_p.R120K	NM_002168.2	NP_002159.2	P48735	IDHP_HUMAN	isocitrate dehydrogenase 2 (NADP+), mitochondrial	172					2-oxoglutarate metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding	p.R172K(116)|p.R172M(21)|p.R172N(1)		biliary_tract(11)|bone(19)|central_nervous_system(107)|endometrium(1)|haematopoietic_and_lymphoid_tissue(953)|large_intestine(8)|lung(5)|skin(5)	1109	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.106)			ATGGGCGTGCCTGCCAATGGT	0.632			M		GBM								25	34					0	0	1	0	0	T	90631838	C	T	90631838	3	4	366	1	0	0	0	0	1	0	0	0	7539	681	24	2	875	2	IDH2	15	90631838	Missense_Mutation	SNP	C	TCGA-P5-A730-01A-11D-A32B-08		90631838	11899554	24	32172											
ZADH2	284273	broad.mit.edu	37	18	72913697	72913697	+	Missense_Mutation	SNP	C	C	G			TCGA-P5-A730-01A-11D-A32B-08	TCGA-P5-A730-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be88dff-3e17-4c99-a334-a9cc7c045ba2	c6b43adc-7b1f-44df-bea6-9448d31209c4	g.chr18:72913697C>G	ENST00000322342.3	-	2	1097	c.808G>C	c.(808-810)Ggg>Cgg	p.G270R	ZADH2_ENST00000537114.2_Missense_Mutation_p.G147R	NM_175907.4	NP_787103.1	Q8N4Q0	ZADH2_HUMAN	zinc binding alcohol dehydrogenase domain containing 2	270						peroxisome	oxidoreductase activity|zinc ion binding			endometrium(3)|large_intestine(3)|lung(8)|skin(1)	15		Esophageal squamous(42;0.131)|Prostate(75;0.155)		READ - Rectum adenocarcinoma(2;0.0276)|BRCA - Breast invasive adenocarcinoma(31;0.216)		GAGATAAACCCTATTACTATC	0.512													23	43					0	0	1	0	0	G	72913697	C	G	72913697	3	3	366	1	0	0	0	0	1	0	0	0	17571	681	24	4	329	4	ZADH2	18	72913697	Missense_Mutation	SNP	C	TCGA-P5-A730-01A-11D-A32B-08		72913697	5163551	25	32173											
KIF5C	3800	broad.mit.edu	37	2	149679749	149679749	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A731-01A-11D-A32B-08	TCGA-P5-A731-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7ae870-2665-4bb5-b7dc-3763198ab5ff	a08583ca-2b35-49fb-9256-367e144bc2c8	g.chr2:149679749C>T	ENST00000435030.1	+	2	538	c.170C>T	c.(169-171)aCg>aTg	p.T57M				O60282	KIF5C_HUMAN	kinesin family member 5C	57	Kinesin-motor.				microtubule-based movement|organelle organization	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(221;0.108)		CCTCCCAACACGACCCAAGAG	0.408													7	20					0	0	1	0	0	T	149679749	C	T	149679749	3	4	367	1	0	0	0	0	1	0	0	0	8349	536	19	1	176	1	KIF5C	2	149679749	Missense_Mutation	SNP	C	TCGA-P5-A731-01A-11D-A32B-08		149679749	93519624	1	32174											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-P5-A731-01A-11D-A32B-08	TCGA-P5-A731-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7ae870-2665-4bb5-b7dc-3763198ab5ff	a08583ca-2b35-49fb-9256-367e144bc2c8	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	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								19	38					0	0	1	0	0	T	209113112	C	T	209113112	3	4	367	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-P5-A731-01A-11D-A32B-08	59433363	209113112	34086261	2	32175											
ITPR1	3708	broad.mit.edu	37	3	4829646	4829646	+	Nonsense_Mutation	SNP	C	C	T			TCGA-P5-A731-01A-11D-A32B-08	TCGA-P5-A731-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7ae870-2665-4bb5-b7dc-3763198ab5ff	a08583ca-2b35-49fb-9256-367e144bc2c8	g.chr3:4829646C>T	ENST00000354582.6	+	51	6936	c.6586C>T	c.(6586-6588)Cga>Tga	p.R2196*	ITPR1_ENST00000357086.4_Nonsense_Mutation_p.R2163*|ITPR1_ENST00000456211.2_Nonsense_Mutation_p.R2148*|ITPR1_ENST00000443694.2_Nonsense_Mutation_p.R2196*|ITPR1_ENST00000302640.8_Nonsense_Mutation_p.R2196*|ITPR1_ENST00000423119.2_Nonsense_Mutation_p.R2163*|ITPR1_ENST00000544951.1_Intron			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	2211					activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		CAGATTAGACCGAACAATGGA	0.388													3	10					0	0	1	0	0	T	4829646	C	T	4829646	4	4	367	1	0	0	0	0	0	1	0	0	7964	644	23	1	6829	1	ITPR1	3	4829646	Nonsense_Mutation	SNP	C	TCGA-P5-A731-01A-11D-A32B-08		4829646	193192784	3	32176											
STAB1	23166	broad.mit.edu	37	3	52539130	52539130	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A731-01A-11D-A32B-08	TCGA-P5-A731-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7ae870-2665-4bb5-b7dc-3763198ab5ff	a08583ca-2b35-49fb-9256-367e144bc2c8	g.chr3:52539130G>A	ENST00000321725.6	+	13	1565	c.1489G>A	c.(1489-1491)Gcc>Acc	p.A497T		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	497					cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		GCGGTGGCAGGCCCCCTCTGG	0.607													30	44					0	0	1	0	0	A	52539130	G	A	52539130	3	1	367	1	0	0	0	0	1	0	0	0	15293	1203	42	2	1539	2	STAB1	3	52539130	Missense_Mutation	SNP	G	TCGA-P5-A731-01A-11D-A32B-08	47709484	52539130	145483300	4	32177											
CLDND1	56650	broad.mit.edu	37	3	98235544	98235544	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A731-01A-11D-A32B-08	TCGA-P5-A731-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7ae870-2665-4bb5-b7dc-3763198ab5ff	a08583ca-2b35-49fb-9256-367e144bc2c8	g.chr3:98235544G>A	ENST00000503004.1	-	5	1600	c.721C>T	c.(721-723)Cgg>Tgg	p.R241W	CLDND1_ENST00000507874.1_Intron|CLDND1_ENST00000394181.2_Missense_Mutation_p.R241W|CLDND1_ENST00000341181.6_Missense_Mutation_p.R241W|CLDND1_ENST00000437922.1_Missense_Mutation_p.R264W|CLDND1_ENST00000511081.1_Missense_Mutation_p.R146W|CLDND1_ENST00000394185.2_Missense_Mutation_p.R241W|CLDND1_ENST00000513287.1_Missense_Mutation_p.R241W|CLDND1_ENST00000502288.1_Intron|CLDND1_ENST00000394180.2_Missense_Mutation_p.R241W|CLDND1_ENST00000510545.1_Missense_Mutation_p.R241W			Q9NY35	CLDN1_HUMAN	claudin domain containing 1	241						integral to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)	9						TACTCTTTCCGGTTGGTGTGA	0.428													15	33					0	0	1	0	0	A	98235544	G	A	98235544	3	1	367	1	0	0	0	0	1	0	0	0	3516	1115	39	1	44	1	CLDND1	3	98235544	Missense_Mutation	SNP	G	TCGA-P5-A731-01A-11D-A32B-08	45696414	98235544	99786886	5	32178											
DSP	1832	broad.mit.edu	37	6	7579935	7579935	+	Missense_Mutation	SNP	T	T	C			TCGA-P5-A731-01A-11D-A32B-08	TCGA-P5-A731-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7ae870-2665-4bb5-b7dc-3763198ab5ff	a08583ca-2b35-49fb-9256-367e144bc2c8	g.chr6:7579935T>C	ENST00000379802.3	+	23	3853	c.3512T>C	c.(3511-3513)aTt>aCt	p.I1171T	DSP_ENST00000418664.2_Missense_Mutation_p.I1171T	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	1171	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		GAGTACGAGATTGAAAGGTTG	0.443													19	25					0	0	1	0	0	C	7579935	T	C	7579935	3	2	367	1	0	0	0	0	1	0	0	0	4807	1493	52	3	3602	3	DSP	6	7579935	Missense_Mutation	SNP	T	TCGA-P5-A731-01A-11D-A32B-08		7579935	163535132	6	32179											
TRIM24	8805	broad.mit.edu	37	7	138261187	138261187	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A731-01A-11D-A32B-08	TCGA-P5-A731-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7ae870-2665-4bb5-b7dc-3763198ab5ff	a08583ca-2b35-49fb-9256-367e144bc2c8	g.chr7:138261187G>A	ENST00000343526.4	+	13	2299	c.2084G>A	c.(2083-2085)gGa>gAa	p.G695E	TRIM24_ENST00000415680.2_Missense_Mutation_p.G661E			O15164	TIF1A_HUMAN	tripartite motif containing 24	695					cellular response to estrogen stimulus|protein catabolic process|regulation of apoptosis|regulation of protein stability|transcription from RNA polymerase II promoter	cytoplasm	chromatin binding|estrogen response element binding|histone acetyl-lysine binding|p53 binding|transcription coactivator activity|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(5)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	40						GGAAGCCGAGGAAGGTAAACT	0.378													8	87					0	0	1	0	0	A	138261187	G	A	138261187	3	1	367	1	0	0	0	0	1	0	0	0	16559	1174	41	2	2134	2	TRIM24	7	138261187	Missense_Mutation	SNP	G	TCGA-P5-A731-01A-11D-A32B-08		138261187	20877476	7	32180											
TRPV6	55503	broad.mit.edu	37	7	142573433	142573433	+	Splice_Site	SNP	C	C	T			TCGA-P5-A731-01A-11D-A32B-08	TCGA-P5-A731-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7ae870-2665-4bb5-b7dc-3763198ab5ff	a08583ca-2b35-49fb-9256-367e144bc2c8	g.chr7:142573433C>T	ENST00000359396.3	-	8	1155	c.910G>A	c.(910-912)Gct>Act	p.A304T		NM_018646.3	NP_061116	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel, subfamily V, member 6	304					regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					ATCTGGCGAGCCTGCAACAGA	0.597													4	120					0	0	1	0	0	T	142573433	C	T	142573433	5	4	367	1	0	0	0	0	0	0	1	0	16661	753	26	2	1299	2	TRPV6	7	142573433	Splice_Site	SNP	C	TCGA-P5-A731-01A-11D-A32B-08	4312246	142573433	16565230	8	32181											
CDH17	1015	broad.mit.edu	37	8	95178204	95178204	+	Splice_Site	SNP	C	C	A			TCGA-P5-A731-01A-11D-A32B-08	TCGA-P5-A731-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7ae870-2665-4bb5-b7dc-3763198ab5ff	a08583ca-2b35-49fb-9256-367e144bc2c8	g.chr8:95178204C>A	ENST00000027335.3	-	10	1191	c.1067G>T	c.(1066-1068)gGt>gTt	p.G356V	CDH17_ENST00000450165.2_Splice_Site_p.G356V|CDH17_ENST00000441892.2_Splice_Site_p.G142V	NM_004063.3	NP_004054.3	Q12864	CAD17_HUMAN	cadherin 17, LI cadherin (liver-intestine)	356	Cadherin 4.					integral to membrane	calcium ion binding			NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			GATACTGTTACCTATGAGGAA	0.398													9	19					0.000673444	0.000700932	1	1	0	A	95178204	C	A	95178204	5	1	367	1	0	0	0	0	0	0	1	0	3124	521	18	5	1467	5	CDH17	8	95178204	Splice_Site	SNP	C	TCGA-P5-A731-01A-11D-A32B-08		95178204	51185818	9	32182											
OXR1	55074	broad.mit.edu	37	8	107704967	107704967	+	Silent	SNP	C	C	T			TCGA-P5-A731-01A-11D-A32B-08	TCGA-P5-A731-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7ae870-2665-4bb5-b7dc-3763198ab5ff	a08583ca-2b35-49fb-9256-367e144bc2c8	g.chr8:107704967C>T	ENST00000445937.1	+	7	798	c.537C>T	c.(535-537)gtC>gtT	p.V179V	OXR1_ENST00000442977.2_Silent_p.V180V|OXR1_ENST00000452423.2_5'UTR|OXR1_ENST00000531443.1_Silent_p.V179V|OXR1_ENST00000312046.6_Silent_p.V172V|OXR1_ENST00000497705.1_Silent_p.V112V|OXR1_ENST00000517566.2_Silent_p.V179V	NM_018002.3	NP_060472.2	Q8N573	OXR1_HUMAN	oxidation resistance 1	180					cell wall macromolecule catabolic process|response to oxidative stress	mitochondrion				NS(2)|breast(2)|endometrium(2)|large_intestine(9)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31			OV - Ovarian serous cystadenocarcinoma(57;1.81e-09)			ATCCTGATGTCCATCCAACAG	0.338													14	35					0	0	1	0	0	T	107704967	C	T	107704967	2	4	367	1	0	0	0	0	0	0	0	1	11381	842	30	2		2	OXR1	8	107704967	Silent	SNP	C	TCGA-P5-A731-01A-11D-A32B-08	12526763	107704967	38659055	10	32183											
TMEFF1	8577	broad.mit.edu	37	9	103338864	103338864	+	Frame_Shift_Del	DEL	G	G	-			TCGA-P5-A731-01A-11D-A32B-08	TCGA-P5-A731-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7ae870-2665-4bb5-b7dc-3763198ab5ff	a08583ca-2b35-49fb-9256-367e144bc2c8	g.chr9:103338864delG	ENST00000374879.4	+	10	1557	c.1125delG	c.(1123-1125)acgfs	p.T375fs	TMEFF1_ENST00000334943.6_Frame_Shift_Del_p.T336fs|MSANTD3-TMEFF1_ENST00000502978.1_Frame_Shift_Del_p.V339fs	NM_003692.4	NP_003683.2			transmembrane protein with EGF-like and two follistatin-like domains 1											NS(1)|kidney(1)|large_intestine(7)|lung(9)|stomach(1)	19		Acute lymphoblastic leukemia(62;0.0452)				CTTCAGATACGTCATCCAGAA	0.308													25	77	---	---	---	---						-	103338864	G	-	103338864	7	5	367	1	0	1	0	1	0	0	0	0	16073	1132	40	0	1163	0	TMEFF1	9	103338864	Frame_Shift_Del	DEL	G	TCGA-P5-A731-01A-11D-A32B-08		103338864	37874567	11	32184											
INPP5E	56623	broad.mit.edu	37	9	139326361	139326361	+	Silent	SNP	G	G	A	rs140255426	byFrequency	TCGA-P5-A731-01A-11D-A32B-08	TCGA-P5-A731-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7ae870-2665-4bb5-b7dc-3763198ab5ff	a08583ca-2b35-49fb-9256-367e144bc2c8	g.chr9:139326361G>A	ENST00000371712.3	-	7	1866	c.1464C>T	c.(1462-1464)gtC>gtT	p.V488V		NM_019892.4	NP_063945.2	Q9NRR6	INP5E_HUMAN	inositol polyphosphate-5-phosphatase, 72 kDa	488						cilium axoneme|cytoskeleton|Golgi cisterna membrane	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity			NS(1)|endometrium(1)|lung(4)|skin(3)	9		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;8.36e-06)|Epithelial(140;1.4e-05)		GGGCGTCCACGACTGTGCGCC	0.667													14	11					0	0	1	0	0	A	139326361	G	A	139326361	2	1	367	1	0	0	0	0	0	0	0	1	7801	1045	37	1		1	INPP5E	9	139326361	Silent	SNP	G	TCGA-P5-A731-01A-11D-A32B-08	35987497	139326361	1887070	12	32185											
SIRT1	23411	broad.mit.edu	37	10	69669113	69669113	+	Missense_Mutation	SNP	G	G	C			TCGA-P5-A731-01A-11D-A32B-08	TCGA-P5-A731-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7ae870-2665-4bb5-b7dc-3763198ab5ff	a08583ca-2b35-49fb-9256-367e144bc2c8	g.chr10:69669113G>C	ENST00000212015.6	+	7	1324	c.1271G>C	c.(1270-1272)aGa>aCa	p.R424T	SIRT1_ENST00000403579.1_Missense_Mutation_p.R121T|SIRT1_ENST00000432464.1_Missense_Mutation_p.R129T|SIRT1_ENST00000406900.1_Missense_Mutation_p.R121T	NM_012238.4	NP_036370.2	Q96EB6	SIRT1_HUMAN	sirtuin 1	424	Deacetylase sirtuin-type.				apoptosis|cell aging|cellular response to hydrogen peroxide|cellular response to starvation|chromatin silencing at rDNA|DNA repair|DNA replication|establishment of chromatin silencing|histone H3 deacetylation|interspecies interaction between organisms|maintenance of chromatin silencing|muscle organ development|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of fat cell differentiation|negative regulation of helicase activity|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|peptidyl-lysine acetylation|peptidyl-lysine deacetylation|positive regulation of anti-apoptosis|positive regulation of chromatin silencing|positive regulation of DNA repair|regulation of apoptosis|regulation of cell proliferation|regulation of endodeoxyribonuclease activity|regulation of protein import into nucleus, translocation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|rRNA processing|transcription, DNA-dependent|triglyceride mobilization|white fat cell differentiation	chromatin silencing complex|cytoplasm|nuclear euchromatin|nuclear heterochromatin|nuclear inner membrane|nucleolus|PML body|rDNA heterochromatin	bHLH transcription factor binding|histone binding|HLH domain binding|identical protein binding|mitogen-activated protein kinase binding|NAD+ binding|NAD-dependent histone deacetylase activity (H3-K9 specific)|p53 binding|protein C-terminus binding|transcription corepressor activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(3)|skin(1)	14						CAGTTTCATAGAGCCATGAAG	0.418													41	40					0	0	1	0	0	C	69669113	G	C	69669113	3	2	367	1	0	0	0	0	1	0	0	0	14392	942	33	4	1297	4	SIRT1	10	69669113	Missense_Mutation	SNP	G	TCGA-P5-A731-01A-11D-A32B-08		69669113	65865634	13	32186											
OR52N4	390072	broad.mit.edu	37	11	5776137	5776137	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A731-01A-11D-A32B-08	TCGA-P5-A731-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7ae870-2665-4bb5-b7dc-3763198ab5ff	a08583ca-2b35-49fb-9256-367e144bc2c8	g.chr11:5776137C>T	ENST00000317254.3	+	1	215	c.167C>T	c.(166-168)gCc>gTc	p.A56V	TRIM5_ENST00000380027.1_Intron	NM_001005175.2	NP_001005175.3	Q8NGI2	O52N4_HUMAN	olfactory receptor, family 52, subfamily N, member 4 (gene/pseudogene)	56					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;1.87e-10)|LUSC - Lung squamous cell carcinoma(625;0.114)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.197)		TATGAGGATGCCCTGCACAAA	0.453													3	58					0	0	1	0	0	T	5776137	C	T	5776137	3	4	367	1	0	0	0	0	1	0	0	0	11177	739	26	2	169	2	OR52N4	11	5776137	Missense_Mutation	SNP	C	TCGA-P5-A731-01A-11D-A32B-08		5776137	129230379	14	32187											
LTA4H	4048	broad.mit.edu	37	12	96400139	96400139	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A731-01A-11D-A32B-08	TCGA-P5-A731-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7ae870-2665-4bb5-b7dc-3763198ab5ff	a08583ca-2b35-49fb-9256-367e144bc2c8	g.chr12:96400139G>A	ENST00000228740.2	-	16	1624	c.1483C>T	c.(1483-1485)Ctc>Ttc	p.L495F	LTA4H_ENST00000413268.2_Missense_Mutation_p.L471F|LTA4H_ENST00000552789.1_Missense_Mutation_p.L471F|LTA4H_ENST00000548375.1_5'UTR|RP11-256L6.3_ENST00000551849.1_RNA	NM_000895.2	NP_000886.1	P09960	LKHA4_HUMAN	leukotriene A4 hydrolase	495					hormone biosynthetic process|inflammatory response|leukotriene biosynthetic process|peptide catabolic process|prostanoid metabolic process|proteolysis	cytosol|nucleus	aminopeptidase activity|epoxide hydrolase activity|leukotriene-A4 hydrolase activity|metallopeptidase activity|protein binding|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|kidney(3)|lung(4)|skin(2)|stomach(1)	12						TGAGAAGAGAGATCCTTCAGG	0.338													9	19					0	0	1	0	0	A	96400139	G	A	96400139	3	1	367	1	0	0	0	0	1	0	0	0	9114	942	33	2	368	2	LTA4H	12	96400139	Missense_Mutation	SNP	G	TCGA-P5-A731-01A-11D-A32B-08		96400139	37451756	15	32188											
DDX54	79039	broad.mit.edu	37	12	113614883	113614883	+	Silent	SNP	A	A	G			TCGA-P5-A731-01A-11D-A32B-08	TCGA-P5-A731-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7ae870-2665-4bb5-b7dc-3763198ab5ff	a08583ca-2b35-49fb-9256-367e144bc2c8	g.chr12:113614883A>G	ENST00000314045.7	-	6	657	c.630T>C	c.(628-630)ttT>ttC	p.F210F	DDX54_ENST00000306014.5_Silent_p.F210F	NM_001111322.1	NP_001104792.1	Q8TDD1	DDX54_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 54	210	Helicase ATP-binding.				estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nucleolus	ATP binding|ATP-dependent RNA helicase activity|estrogen receptor binding|RNA binding|transcription corepressor activity			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						GCAGGGCTGCAAACTGGTCTT	0.517													22	38					0	0	1	0	0	G	113614883	A	G	113614883	2	3	367	1	0	0	0	0	0	0	0	1	4395	127	5	3		3	DDX54	12	113614883	Silent	SNP	A	TCGA-P5-A731-01A-11D-A32B-08	17214744	113614883	20237012	16	32189											
GPX2	2877	broad.mit.edu	37	14	65406518	65406519	+	Frame_Shift_Ins	INS	-	-	T			TCGA-P5-A731-01A-11D-A32B-08	TCGA-P5-A731-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7ae870-2665-4bb5-b7dc-3763198ab5ff	a08583ca-2b35-49fb-9256-367e144bc2c8	g.chr14:65406518_65406519insT	ENST00000389614.5	-	2	346_347	c.260_261insA	c.(259-261)aagfs	p.K87fs	CHURC1-FNTB_ENST00000549987.1_Intron|FNTB_ENST00000447296.2_Intron|FNTB_ENST00000542227.1_Intron	NM_002083.3	NP_002074.2	P18283	GPX2_HUMAN	glutathione peroxidase 2 (gastrointestinal)	87					response to oxidative stress	cytoplasm	electron carrier activity|glutathione peroxidase activity			large_intestine(2)|ovary(1)|skin(1)	4				all cancers(60;0.00117)|OV - Ovarian serous cystadenocarcinoma(108;0.00557)|BRCA - Breast invasive adenocarcinoma(234;0.00971)	Glutathione(DB00143)	GACGGACATACTTGAGACTGTT	0.52													16	36	---	---	---	---						T	65406519	-	T	65406518	7	5	367	1	0	1	1	0	0	0	0	0	6781	564	20	0	315	0	GPX2	14	65406518	Frame_Shift_Ins	INS	-	TCGA-P5-A731-01A-11D-A32B-08		65406518	41943022	17	32190											
FUT8	2530	broad.mit.edu	37	14	66208905	66208905	+	Missense_Mutation	SNP	A	A	G			TCGA-P5-A731-01A-11D-A32B-08	TCGA-P5-A731-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7ae870-2665-4bb5-b7dc-3763198ab5ff	a08583ca-2b35-49fb-9256-367e144bc2c8	g.chr14:66208905A>G	ENST00000360689.5	+	11	3232	c.1505A>G	c.(1504-1506)cAg>cGg	p.Q502R	FUT8_ENST00000394585.1_Missense_Mutation_p.Q502R|FUT8_ENST00000417683.1_Missense_Mutation_p.Q96R|FUT8_ENST00000358307.2_Missense_Mutation_p.Q373R|FUT8_ENST00000557164.1_Missense_Mutation_p.Q339R|FUT8_ENST00000394586.2_Missense_Mutation_p.Q502R	NM_004480.4|NM_178155.2	NP_004471.4|NP_835368.1	Q9BYC5	FUT8_HUMAN	fucosyltransferase 8 (alpha (1,6) fucosyltransferase)	502	SH3.				in utero embryonic development|L-fucose catabolic process|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein glycosylation in Golgi|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	glycoprotein 6-alpha-L-fucosyltransferase activity|SH3 domain binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	22				all cancers(60;0.00109)|OV - Ovarian serous cystadenocarcinoma(108;0.00242)|BRCA - Breast invasive adenocarcinoma(234;0.0114)		TTTGGGGGCCAGAATGCCCAC	0.438													5	137					0	0	1	0	0	G	66208905	A	G	66208905	3	3	367	1	0	0	0	0	1	0	0	0	6145	188	7	3	1638	3	FUT8	14	66208905	Missense_Mutation	SNP	A	TCGA-P5-A731-01A-11D-A32B-08	802387	66208905	41140635	18	32191											
TLE3	7090	broad.mit.edu	37	15	70347560	70347560	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A731-01A-11D-A32B-08	TCGA-P5-A731-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7ae870-2665-4bb5-b7dc-3763198ab5ff	a08583ca-2b35-49fb-9256-367e144bc2c8	g.chr15:70347560C>T	ENST00000558939.1	-	15	2792	c.1415G>A	c.(1414-1416)gGc>gAc	p.G472D	TLE3_ENST00000317509.8_Missense_Mutation_p.G460D|TLE3_ENST00000558379.1_Missense_Mutation_p.G467D|TLE3_ENST00000558201.1_Missense_Mutation_p.G478D|TLE3_ENST00000559929.1_Missense_Mutation_p.G482D|TLE3_ENST00000440567.3_Missense_Mutation_p.G462D|TLE3_ENST00000451782.2_Missense_Mutation_p.G469D|TLE3_ENST00000560939.1_Missense_Mutation_p.G474D|TLE3_ENST00000557907.1_Missense_Mutation_p.G464D|TLE3_ENST00000557997.1_Missense_Mutation_p.G464D|TLE3_ENST00000559048.1_Missense_Mutation_p.G472D|TLE3_ENST00000559191.1_Missense_Mutation_p.G53D|TLE3_ENST00000539550.1_Missense_Mutation_p.G399D|TLE3_ENST00000442299.2_Missense_Mutation_p.G464D|TLE3_ENST00000560589.1_Missense_Mutation_p.G416D	NM_001282979.1|NM_001282980.1|NM_001282981.1	NP_001269908.1|NP_001269909.1|NP_001269910.1	Q04726	TLE3_HUMAN	transducin-like enhancer of split 3 (E(sp1) homolog, Drosophila)	472					organ morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						CCTCGGGATGCCGGGGCCTGC	0.637													3	51					0	0	1	0	0	T	70347560	C	T	70347560	3	4	367	1	0	0	0	0	1	0	0	0	16000	739	26	2	927	2	TLE3	15	70347560	Missense_Mutation	SNP	C	TCGA-P5-A731-01A-11D-A32B-08		70347560	32183832	19	32192											
TMC3	342125	broad.mit.edu	37	15	81627192	81627192	+	Silent	SNP	T	T	C			TCGA-P5-A731-01A-11D-A32B-08	TCGA-P5-A731-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7ae870-2665-4bb5-b7dc-3763198ab5ff	a08583ca-2b35-49fb-9256-367e144bc2c8	g.chr15:81627192T>C	ENST00000558726.1	-	21	2466	c.2331A>G	c.(2329-2331)tcA>tcG	p.S777S	RP11-761I4.3_ENST00000560973.1_RNA|RP11-761I4.3_ENST00000560851.1_RNA|RP11-761I4.3_ENST00000559781.1_RNA|TMC3_ENST00000359440.5_Silent_p.S776S			Q7Z5M5	TMC3_HUMAN	transmembrane channel-like 3	776						integral to membrane				autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						TGCTGCTCCCTGAGTCAAAAT	0.607													3	42					0	0	1	0	0	C	81627192	T	C	81627192	2	2	367	1	0	0	0	0	0	0	0	1	16046	1567	55	3		3	TMC3	15	81627192	Silent	SNP	T	TCGA-P5-A731-01A-11D-A32B-08	11279632	81627192	20904200	20	32193											
CMIP	80790	broad.mit.edu	37	16	81735339	81735339	+	Missense_Mutation	SNP	G	G	C			TCGA-P5-A731-01A-11D-A32B-08	TCGA-P5-A731-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7ae870-2665-4bb5-b7dc-3763198ab5ff	a08583ca-2b35-49fb-9256-367e144bc2c8	g.chr16:81735339G>C	ENST00000537098.3	+	16	1902	c.1830G>C	c.(1828-1830)gaG>gaC	p.E610D	CMIP_ENST00000566513.1_3'UTR|CMIP_ENST00000398040.4_Missense_Mutation_p.E457D|CMIP_ENST00000539778.2_Missense_Mutation_p.E516D	NM_198390.2	NP_938204.2	Q8IY22	CMIP_HUMAN	c-Maf inducing protein	576						cytoplasm|nucleus				endometrium(5)|kidney(1)|lung(7)	13						CAACCCTGGAGAGCACAGACG	0.587													63	114					0	0	1	0	0	C	81735339	G	C	81735339	3	2	367	1	0	0	0	0	1	0	0	0	3601	933	33	4	1914	4	CMIP	16	81735339	Missense_Mutation	SNP	G	TCGA-P5-A731-01A-11D-A32B-08		81735339	8619414	21	32194											
MYH8	4626	broad.mit.edu	37	17	10298604	10298604	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A731-01A-11D-A32B-08	TCGA-P5-A731-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7ae870-2665-4bb5-b7dc-3763198ab5ff	a08583ca-2b35-49fb-9256-367e144bc2c8	g.chr17:10298604G>A	ENST00000403437.2	-	34	4902	c.4808C>T	c.(4807-4809)aCg>aTg	p.T1603M	RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1603					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						TGCATCCAGCGTGCTCTGCAT	0.428									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				40	100					0	0	1	0	0	A	10298604	G	A	10298604	3	1	367	1	0	0	0	0	1	0	0	0	10089	1145	40	1	1033	1	MYH8	17	10298604	Missense_Mutation	SNP	G	TCGA-P5-A731-01A-11D-A32B-08		10298604	70896606	22	32195											
MRPS23	51649	broad.mit.edu	37	17	55918578	55918578	+	Missense_Mutation	SNP	G	G	T			TCGA-P5-A731-01A-11D-A32B-08	TCGA-P5-A731-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7ae870-2665-4bb5-b7dc-3763198ab5ff	a08583ca-2b35-49fb-9256-367e144bc2c8	g.chr17:55918578G>T	ENST00000313608.8	-	3	304	c.259C>A	c.(259-261)Cta>Ata	p.L87I	MRPS23_ENST00000578444.1_Missense_Mutation_p.L87I	NM_016070.3	NP_057154.2	Q9Y3D9	RT23_HUMAN	mitochondrial ribosomal protein S23	87					translation	intermediate filament cytoskeleton|mitochondrion|nuclear membrane|ribosome	structural constituent of ribosome			endometrium(2)|large_intestine(1)|lung(2)	5	Breast(9;8.75e-08)					GGATTGAATAGATCAAAAGCT	0.323													48	71					6.3237e-29	6.71893e-29	1	1	0	T	55918578	G	T	55918578	3	4	367	1	0	0	0	0	1	0	0	0	9883	933	33	4	325	4	MRPS23	17	55918578	Missense_Mutation	SNP	G	TCGA-P5-A731-01A-11D-A32B-08	45619974	55918578	25276632	23	32196											
ZNF569	148266	broad.mit.edu	37	19	37903535	37903535	+	Silent	SNP	C	C	T			TCGA-P5-A731-01A-11D-A32B-08	TCGA-P5-A731-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7ae870-2665-4bb5-b7dc-3763198ab5ff	a08583ca-2b35-49fb-9256-367e144bc2c8	g.chr19:37903535C>T	ENST00000316950.6	-	6	2582	c.2025G>A	c.(2023-2025)tcG>tcA	p.S675S	ZNF569_ENST00000392149.2_Silent_p.S675S|ZNF569_ENST00000392150.2_Silent_p.S516S	NM_152484.2	NP_689697.2	Q5MCW4	ZN569_HUMAN	zinc finger protein 569	675					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|endometrium(4)|large_intestine(16)|lung(11)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TAACAAGGTGCGACTTTTGGC	0.408													49	72					0	0	1	0	0	T	37903535	C	T	37903535	2	4	367	1	0	0	0	0	0	0	0	1	18057	755	27	1		1	ZNF569	19	37903535	Silent	SNP	C	TCGA-P5-A731-01A-11D-A32B-08		37903535	21225448	24	32197											
CEACAM6	4680	broad.mit.edu	37	19	42259554	42259554	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A731-01A-11D-A32B-08	TCGA-P5-A731-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7ae870-2665-4bb5-b7dc-3763198ab5ff	a08583ca-2b35-49fb-9256-367e144bc2c8	g.chr19:42259554C>T	ENST00000199764.6	+	1	226	c.8C>T	c.(7-9)cCc>cTc	p.P3L	CEA_ENST00000598976.1_Intron	NM_002483.4	NP_002474.3	P40199	CEAM6_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 6 (non-specific cross reacting antigen)	3					cell-cell signaling|signal transduction	anchored to membrane|integral to plasma membrane				breast(1)|kidney(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(3;0.00575)|all cancers(3;0.0352)|Epithelial(262;0.0797)		ACCATGGGACCCCCCTCAGCC	0.612													15	35					0	0	1	0	0	T	42259554	C	T	42259554	3	4	367	1	0	0	0	0	1	0	0	0	3218	623	22	2	10	2	CEACAM6	19	42259554	Missense_Mutation	SNP	C	TCGA-P5-A731-01A-11D-A32B-08	4356019	42259554	16869429	25	32198											
NDRG3	57446	broad.mit.edu	37	20	35293669	35293669	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A731-01A-11D-A32B-08	TCGA-P5-A731-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7ae870-2665-4bb5-b7dc-3763198ab5ff	a08583ca-2b35-49fb-9256-367e144bc2c8	g.chr20:35293669C>T	ENST00000373803.2	-	11	784	c.728G>A	c.(727-729)gGc>gAc	p.G243D	NDRG3_ENST00000359675.2_Missense_Mutation_p.G231D|NDRG3_ENST00000373773.3_Missense_Mutation_p.G148D|NDRG3_ENST00000349004.1_Missense_Mutation_p.G243D|NDRG3_ENST00000540765.1_Missense_Mutation_p.G139D			Q9UGV2	NDRG3_HUMAN	NDRG family member 3	243					cell differentiation|negative regulation of cell growth|spermatogenesis	cytoplasm				endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12		Myeloproliferative disorder(115;0.00878)				ATCATTTTGGCCCAGTATGGG	0.378													4	201					0	0	1	0	0	T	35293669	C	T	35293669	3	4	367	1	0	0	0	0	1	0	0	0	10300	739	26	2	423	2	NDRG3	20	35293669	Missense_Mutation	SNP	C	TCGA-P5-A731-01A-11D-A32B-08		35293669	27731851	26	32199											
RTDR1	27156	broad.mit.edu	37	22	23401783	23401783	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A731-01A-11D-A32B-08	TCGA-P5-A731-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7ae870-2665-4bb5-b7dc-3763198ab5ff	a08583ca-2b35-49fb-9256-367e144bc2c8	g.chr22:23401783C>T	ENST00000216036.4	-	7	1100	c.904G>A	c.(904-906)Gcc>Acc	p.A302T		NM_014433.2	NP_055248.1	Q9UHP6	RTDR1_HUMAN	rhabdoid tumor deletion region gene 1	302							binding			breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	18	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.175)		CCCTCGGGGGCCTCTGCCAGC	0.642													34	44					0	0	1	0	0	T	23401783	C	T	23401783	3	4	367	1	0	0	0	0	1	0	0	0	13771	739	26	2	146	2	RTDR1	22	23401783	Missense_Mutation	SNP	C	TCGA-P5-A731-01A-11D-A32B-08		23401783	27902783	27	32200											
FAM47C	442444	broad.mit.edu	37	X	37027114	37027114	+	Missense_Mutation	SNP	C	C	T	rs143691874		TCGA-P5-A731-01A-11D-A32B-08	TCGA-P5-A731-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7ae870-2665-4bb5-b7dc-3763198ab5ff	a08583ca-2b35-49fb-9256-367e144bc2c8	g.chrX:37027114C>T	ENST00000358047.3	+	1	683	c.631C>T	c.(631-633)Cgc>Tgc	p.R211C		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	211										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						GTCCAGTCTCCGCCCGGAGCC	0.647													22	35					0	0	1	0	0	T	37027114	C	T	37027114	3	4	367	1	0	0	0	0	1	0	0	0	5607	652	23	1	633	1	FAM47C	23	37027114	Missense_Mutation	SNP	C	TCGA-P5-A731-01A-11D-A32B-08		37027114	118243446	28	32201											
HUWE1	10075	broad.mit.edu	37	X	53579402	53579402	+	Splice_Site	SNP	G	G	C			TCGA-P5-A731-01A-11D-A32B-08	TCGA-P5-A731-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7ae870-2665-4bb5-b7dc-3763198ab5ff	a08583ca-2b35-49fb-9256-367e144bc2c8	g.chrX:53579402G>C	ENST00000342160.3	-	62	9208	c.8751C>G	c.(8749-8751)agC>agG	p.S2917R	HUWE1_ENST00000262854.6_Splice_Site_p.S2917R			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	2917					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						CAGGTGGGGAGCTGAGGGAAA	0.488													4	18					0	0	1	0	0	C	53579402	G	C	53579402	5	2	367	1	0	0	0	0	0	0	1	0	7505	985	34	4	4461	4	HUWE1	23	53579402	Splice_Site	SNP	G	TCGA-P5-A731-01A-11D-A32B-08	16552288	53579402	101691158	29	32202											
AGTR2	186	broad.mit.edu	37	X	115303787	115303787	+	Missense_Mutation	SNP	A	A	G			TCGA-P5-A731-01A-11D-A32B-08	TCGA-P5-A731-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7ae870-2665-4bb5-b7dc-3763198ab5ff	a08583ca-2b35-49fb-9256-367e144bc2c8	g.chrX:115303787A>G	ENST00000371906.4	+	3	444	c.254A>G	c.(253-255)aAc>aGc	p.N85S		NM_000686.4	NP_000677.2	P50052	AGTR2_HUMAN	angiotensin II receptor, type 2	85					behavior|blood vessel remodeling|brain development|G-protein signaling, coupled to cGMP nucleotide second messenger|intracellular protein kinase cascade|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of heart rate|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of nitric-oxide synthase activity|positive regulation of phosphoprotein phosphatase activity|positive regulation of vasodilation|regulation of systemic arterial blood pressure by circulatory renin-angiotensin		angiotensin type II receptor activity|receptor antagonist activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|skin(1)	24						TACATCTTCAACCTCGCTGTG	0.378													4	305					0	0	1	0	0	G	115303787	A	G	115303787	3	3	367	1	0	0	0	0	1	0	0	0	399	43	2	3	256	3	AGTR2	23	115303787	Missense_Mutation	SNP	A	TCGA-P5-A731-01A-11D-A32B-08	61724385	115303787	39966773	30	32203											
HPRT1	3251	broad.mit.edu	37	X	133627577	133627577	+	Missense_Mutation	SNP	T	T	C			TCGA-P5-A731-01A-11D-A32B-08	TCGA-P5-A731-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7ae870-2665-4bb5-b7dc-3763198ab5ff	a08583ca-2b35-49fb-9256-367e144bc2c8	g.chrX:133627577T>C	ENST00000298556.7	+	6	601	c.442T>C	c.(442-444)Tcc>Ccc	p.S148P	HPRT1_ENST00000462974.1_3'UTR	NM_000194.2	NP_000185.1	P00492	HPRT_HUMAN	hypoxanthine phosphoribosyltransferase 1	148					adenine salvage|central nervous system neuron development|cerebral cortex neuron differentiation|cytolysis|dendrite morphogenesis|GMP catabolic process|GMP salvage|grooming behavior|guanine salvage|hypoxanthine salvage|IMP salvage|lymphocyte proliferation|positive regulation of dopamine metabolic process|protein homotetramerization|purine ribonucleoside salvage|response to amphetamine|striatum development	cytosol	guanine phosphoribosyltransferase activity|hypoxanthine phosphoribosyltransferase activity|magnesium ion binding|nucleotide binding|protein homodimerization activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	9	Acute lymphoblastic leukemia(192;0.000127)				Mercaptopurine(DB01033)|Thioguanine(DB00352)	GACTTTGCTTTCCTTGGTCAG	0.353													89	122					0	0	1	0	0	C	133627577	T	C	133627577	3	2	367	1	0	0	0	0	1	0	0	0	7379	1783	62	3	464	3	HPRT1	23	133627577	Missense_Mutation	SNP	T	TCGA-P5-A731-01A-11D-A32B-08	18323790	133627577	21642983	31	32204											
DFFA	1676	broad.mit.edu	37	1	10523191	10523191	+	Missense_Mutation	SNP	G	G	A	rs142954972	byFrequency	TCGA-P5-A733-01A-11D-A32B-08	TCGA-P5-A733-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa30d54d-91d2-46aa-9db1-67a4ee42a4b5	a301d972-8e21-4d68-a1ff-cd3eb830f518	g.chr1:10523191G>A	ENST00000377038.3	-	5	774	c.707C>T	c.(706-708)gCg>gTg	p.A236V	DFFA_ENST00000377036.2_Missense_Mutation_p.A236V	NM_004401.2	NP_004392.1	O00273	DFFA_HUMAN	DNA fragmentation factor, 45kDa, alpha polypeptide	236					DNA fragmentation involved in apoptotic nuclear change|intracellular signal transduction|negative regulation of apoptosis	cytosol|mitochondrion|nucleoplasm|plasma membrane	deoxyribonuclease activity|identical protein binding			large_intestine(3)|lung(2)	5	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.25e-07)|COAD - Colon adenocarcinoma(227;7.25e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000296)|Kidney(185;0.00074)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0487)		GCTCGCCAGCGCAACGTCCGA	0.562													3	30					0	0	1	0	0	A	10523191	G	A	10523191	3	1	368	1	0	0	0	0	1	0	0	0	4480	1087	38	1	320	1	DFFA	1	10523191	Missense_Mutation	SNP	G	TCGA-P5-A733-01A-11D-A32B-08		10523191	238727430	1	32205											
PABPC4	8761	broad.mit.edu	37	1	40027846	40027846	+	Missense_Mutation	SNP	T	T	C	rs141368472		TCGA-P5-A733-01A-11D-A32B-08	TCGA-P5-A733-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa30d54d-91d2-46aa-9db1-67a4ee42a4b5	a301d972-8e21-4d68-a1ff-cd3eb830f518	g.chr1:40027846T>C	ENST00000372857.3	-	14	2536	c.1744A>G	c.(1744-1746)Atg>Gtg	p.M582V	PABPC4_ENST00000372858.3_Missense_Mutation_p.M598V|PABPC4_ENST00000372862.3_Missense_Mutation_p.M553V|PABPC4_ENST00000372856.3_Missense_Mutation_p.M569V	NM_003819.3	NP_003810.1	Q13310	PABP4_HUMAN	poly(A) binding protein, cytoplasmic 4 (inducible form)	582	PABC.				blood coagulation|RNA catabolic process|RNA processing|translation	cytoplasm|ribonucleoprotein complex	nucleotide binding|poly(A) RNA binding|poly(U) RNA binding|protein binding	p.M582V(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(3)	21	Lung NSC(20;1.55e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.89e-18)|Epithelial(16;6.17e-17)|all cancers(16;1.18e-15)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			TTTGAATGCATTGTTTGGATG	0.473													25	35					0	0	1	0	0	C	40027846	T	C	40027846	3	2	368	1	0	0	0	0	1	0	0	0	11413	1493	52	3	198	3	PABPC4	1	40027846	Missense_Mutation	SNP	T	TCGA-P5-A733-01A-11D-A32B-08	29504655	40027846	209222775	2	32206											
IPP	3652	broad.mit.edu	37	1	46184897	46184898	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-P5-A733-01A-11D-A32B-08	TCGA-P5-A733-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa30d54d-91d2-46aa-9db1-67a4ee42a4b5	a301d972-8e21-4d68-a1ff-cd3eb830f518	g.chr1:46184897_46184898delAC	ENST00000396478.3	-	6	1265_1266	c.1163_1164delGT	c.(1162-1164)tgtfs	p.C388fs		NM_005897.2	NP_005888.1	Q9Y573	IPP_HUMAN	intracisternal A particle-promoted polypeptide	388						actin cytoskeleton|cytoplasm	actin binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|stomach(2)	20	Acute lymphoblastic leukemia(166;0.155)					TAGCCCCATAACACACACACAC	0.347													9	80	---	---	---	---						-	46184898	AC	-	46184897	7	5	368	1	0	1	0	1	0	0	0	0	7844	41	2	0	708	0	IPP	1	46184897	Frame_Shift_Del	DEL	AC	TCGA-P5-A733-01A-11D-A32B-08	6157051	46184897	203065724	3	32207											
KLHDC9	126823	broad.mit.edu	37	1	161070000	161070000	+	Silent	SNP	C	C	T			TCGA-P5-A733-01A-11D-A32B-08	TCGA-P5-A733-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa30d54d-91d2-46aa-9db1-67a4ee42a4b5	a301d972-8e21-4d68-a1ff-cd3eb830f518	g.chr1:161070000C>T	ENST00000368011.4	+	4	1178	c.1036C>T	c.(1036-1038)Ctg>Ttg	p.L346L	KLHDC9_ENST00000392192.2_3'UTR|KLHDC9_ENST00000490724.2_3'UTR	NM_152366.4	NP_689579.3	Q8NEP7	KLDC9_HUMAN	kelch domain containing 9	346										lung(5)|upper_aerodigestive_tract(1)	6	all_cancers(52;1.28e-19)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			GGTTTGCATCCTGGACTTTAT	0.473													52	70					0	0	1	0	0	T	161070000	C	T	161070000	2	4	368	1	0	0	0	0	0	0	0	1	8407	680	24	2		2	KLHDC9	1	161070000	Silent	SNP	C	TCGA-P5-A733-01A-11D-A32B-08	114885103	161070000	88180621	4	32208											
H3F3A	3020	broad.mit.edu	37	1	226252070	226252070	+	Silent	SNP	G	G	A			TCGA-P5-A733-01A-11D-A32B-08	TCGA-P5-A733-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa30d54d-91d2-46aa-9db1-67a4ee42a4b5	a301d972-8e21-4d68-a1ff-cd3eb830f518	g.chr1:226252070G>A	ENST00000366814.3	+	2	139	c.18G>A	c.(16-18)caG>caA	p.Q6Q	H3F3A_ENST00000366813.1_Silent_p.Q6Q|H3F3A_ENST00000366816.1_Silent_p.Q6Q|H3F3A_ENST00000366815.3_Silent_p.Q6Q					H3 histone, family 3A											central_nervous_system(116)|endometrium(2)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	123	Breast(184;0.179)			GBM - Glioblastoma multiforme(131;0.203)		GTACAAAGCAGACTGCCCGCA	0.488			Mis		glioma						OREG0014293	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	28					0	0	1	0	0	A	226252070	G	A	226252070	2	1	368	1	0	0	0	0	0	0	0	1	6974	933	33	2		2	H3F3A	1	226252070	Silent	SNP	G	TCGA-P5-A733-01A-11D-A32B-08	65182070	226252070	22998551	5	32209											
GREB1	9687	broad.mit.edu	37	2	11716615	11716615	+	Silent	SNP	A	A	G			TCGA-P5-A733-01A-11D-A32B-08	TCGA-P5-A733-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa30d54d-91d2-46aa-9db1-67a4ee42a4b5	a301d972-8e21-4d68-a1ff-cd3eb830f518	g.chr2:11716615A>G	ENST00000381486.2	+	5	891	c.591A>G	c.(589-591)gcA>gcG	p.A197A	GREB1_ENST00000234142.5_Silent_p.A197A|GREB1_ENST00000389825.3_Silent_p.A87A|GREB1_ENST00000263834.5_Silent_p.A197A|GREB1_ENST00000381483.2_Silent_p.A197A	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	197						integral to membrane				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		TCCGTAATGCACAAGGGACTC	0.488													30	65					0	0	1	0	0	G	11716615	A	G	11716615	2	3	368	1	0	0	0	0	0	0	0	1	6801	146	6	3		3	GREB1	2	11716615	Silent	SNP	A	TCGA-P5-A733-01A-11D-A32B-08		11716615	231482758	6	32210											
TRIM54	57159	broad.mit.edu	37	2	27505613	27505613	+	Missense_Mutation	SNP	T	T	G			TCGA-P5-A733-01A-11D-A32B-08	TCGA-P5-A733-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa30d54d-91d2-46aa-9db1-67a4ee42a4b5	a301d972-8e21-4d68-a1ff-cd3eb830f518	g.chr2:27505613T>G	ENST00000296098.4	+	1	284	c.14T>G	c.(13-15)gTg>gGg	p.V5G	TRIM54_ENST00000380075.2_Missense_Mutation_p.V5G	NM_032546.3	NP_115935.3	Q9BYV2	TRI54_HUMAN	tripartite motif containing 54	5					cell differentiation|microtubule-based process|multicellular organismal development|negative regulation of microtubule depolymerization	microtubule|sarcomere	signal transducer activity|zinc ion binding			cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AACTTCACAGTGGGTTTCAAG	0.592													20	103					0	0	1	0	0	G	27505613	T	G	27505613	3	3	368	1	0	0	0	0	1	0	0	0	16589	1696	59	5	16	5	TRIM54	2	27505613	Missense_Mutation	SNP	T	TCGA-P5-A733-01A-11D-A32B-08	15788998	27505613	215693760	7	32211											
MGAT4A	11320	broad.mit.edu	37	2	99279513	99279513	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A733-01A-11D-A32B-08	TCGA-P5-A733-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa30d54d-91d2-46aa-9db1-67a4ee42a4b5	a301d972-8e21-4d68-a1ff-cd3eb830f518	g.chr2:99279513C>T	ENST00000264968.3	-	4	896	c.533G>A	c.(532-534)gGa>gAa	p.G178E	MGAT4A_ENST00000414521.2_Missense_Mutation_p.G50E|MGAT4A_ENST00000409391.1_Missense_Mutation_p.G178E|MGAT4A_ENST00000461884.1_5'UTR|MGAT4A_ENST00000393487.1_Missense_Mutation_p.G178E			Q9UM21	MGT4A_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme A						N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	extracellular region|Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|stomach(1)	19						AATTACCTCTCCTATGAAGAC	0.294													50	58					0	0	1	0	0	T	99279513	C	T	99279513	3	4	368	1	0	0	0	0	1	0	0	0	9595	855	30	2	1201	2	MGAT4A	2	99279513	Missense_Mutation	SNP	C	TCGA-P5-A733-01A-11D-A32B-08	71773900	99279513	143919860	8	32212											
DNAH7	56171	broad.mit.edu	37	2	196738409	196738409	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A733-01A-11D-A32B-08	TCGA-P5-A733-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa30d54d-91d2-46aa-9db1-67a4ee42a4b5	a301d972-8e21-4d68-a1ff-cd3eb830f518	g.chr2:196738409C>T	ENST00000312428.6	-	39	6396	c.6296G>A	c.(6295-6297)cGa>cAa	p.R2099Q		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2099	AAA 3 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TACTGGATTTCGACCACCACC	0.274													9	29					0	0	1	0	0	T	196738409	C	T	196738409	3	4	368	1	0	0	0	0	1	0	0	0	4633	884	31	1	5886	1	DNAH7	2	196738409	Missense_Mutation	SNP	C	TCGA-P5-A733-01A-11D-A32B-08	97458896	196738409	46460964	9	32213											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-P5-A733-01A-11D-A32B-08	TCGA-P5-A733-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa30d54d-91d2-46aa-9db1-67a4ee42a4b5	a301d972-8e21-4d68-a1ff-cd3eb830f518	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								28	42					0	0	1	0	0	T	209113112	C	T	209113112	3	4	368	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-P5-A733-01A-11D-A32B-08	12374703	209113112	34086261	10	32214											
NEU2	4759	broad.mit.edu	37	2	233899291	233899291	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A733-01A-11D-A32B-08	TCGA-P5-A733-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa30d54d-91d2-46aa-9db1-67a4ee42a4b5	a301d972-8e21-4d68-a1ff-cd3eb830f518	g.chr2:233899291G>A	ENST00000233840.3	+	2	667	c.667G>A	c.(667-669)Gaa>Aaa	p.E223K		NM_005383.2	NP_005374.2	Q9Y3R4	NEUR2_HUMAN	sialidase 2 (cytosolic sialidase)	223							exo-alpha-sialidase activity			endometrium(3)|large_intestine(2)|lung(10)|skin(2)|urinary_tract(1)	18		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0271)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0839)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0488)		CCAGGTGGCCGAAGTCGAGAC	0.652													10	41					0	0	1	0	0	A	233899291	G	A	233899291	3	1	368	1	0	0	0	0	1	0	0	0	10389	1059	37	1	673	1	NEU2	2	233899291	Missense_Mutation	SNP	G	TCGA-P5-A733-01A-11D-A32B-08	24786179	233899291	9300082	11	32215											
DNAH12	201625	broad.mit.edu	37	3	57489762	57489762	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A733-01A-11D-A32B-08	TCGA-P5-A733-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa30d54d-91d2-46aa-9db1-67a4ee42a4b5	a301d972-8e21-4d68-a1ff-cd3eb830f518	g.chr3:57489762C>T	ENST00000351747.2	-	9	1247	c.1067G>A	c.(1066-1068)cGa>cAa	p.R356Q	DNAH12_ENST00000311202.6_Missense_Mutation_p.R356Q|DNAH12_ENST00000389536.4_Missense_Mutation_p.R356Q	NM_178504.4	NP_848599.3	Q6ZR08	DYH12_HUMAN	dynein, axonemal, heavy chain 12	356	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|prostate(1)|skin(1)	25						TTCGGCTATTCGTTCCACCAA	0.338													22	33					0	0	1	0	0	T	57489762	C	T	57489762	3	4	368	1	0	0	0	0	1	0	0	0	4628	884	31	1	8458	1	DNAH12	3	57489762	Missense_Mutation	SNP	C	TCGA-P5-A733-01A-11D-A32B-08		57489762	140532668	12	32216											
KBTBD8	84541	broad.mit.edu	37	3	67054666	67054666	+	Silent	SNP	C	C	T			TCGA-P5-A733-01A-11D-A32B-08	TCGA-P5-A733-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa30d54d-91d2-46aa-9db1-67a4ee42a4b5	a301d972-8e21-4d68-a1ff-cd3eb830f518	g.chr3:67054666C>T	ENST00000295568.4	+	3	1328	c.1197C>T	c.(1195-1197)tgC>tgT	p.C399C	KBTBD8_ENST00000460576.1_Intron|KBTBD8_ENST00000417314.2_Silent_p.C425C	NM_032505.2	NP_115894.2	Q8NFY9	KBTB8_HUMAN	kelch repeat and BTB (POZ) domain containing 8	425										breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)	20		Lung NSC(201;0.0765)		BRCA - Breast invasive adenocarcinoma(55;6.02e-06)|KIRC - Kidney renal clear cell carcinoma(39;0.105)|Kidney(39;0.125)		CGACTGTTTGCGCGATGCCAG	0.413													6	205					0	0	1	0	0	T	67054666	C	T	67054666	2	4	368	1	0	0	0	0	0	0	0	1	8043	776	27	1		1	KBTBD8	3	67054666	Silent	SNP	C	TCGA-P5-A733-01A-11D-A32B-08	9564904	67054666	130967764	13	32217											
TF	7018	broad.mit.edu	37	3	133495949	133495949	+	Silent	SNP	G	G	A			TCGA-P5-A733-01A-11D-A32B-08	TCGA-P5-A733-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa30d54d-91d2-46aa-9db1-67a4ee42a4b5	a301d972-8e21-4d68-a1ff-cd3eb830f518	g.chr3:133495949G>A	ENST00000402696.3	+	16	2414	c.1929G>A	c.(1927-1929)tcG>tcA	p.S643S	TF_ENST00000264998.3_Silent_p.S516S	NM_001063.3	NP_001054	P02787	TRFE_HUMAN	transferrin	643	Transferrin-like 2.				cellular iron ion homeostasis|platelet activation|platelet degranulation|transferrin transport|transmembrane transport	apical plasma membrane|basal plasma membrane|coated pit|early endosome|endocytic vesicle|endosome membrane|extracellular region|late endosome|perinuclear region of cytoplasm|recycling endosome|stored secretory granule	ferric iron binding			NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(7)|large_intestine(13)|liver(2)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49					Aluminium(DB01370)|Bismuth(DB01402)|Iron Dextran(DB00893)	TGTTCCGGTCGGAAACCAAGG	0.433													7	49					0	0	1	0	0	A	133495949	G	A	133495949	2	1	368	1	0	0	0	0	0	0	0	1	15845	1103	39	1		1	TF	3	133495949	Silent	SNP	G	TCGA-P5-A733-01A-11D-A32B-08	66441283	133495949	64526481	14	32218											
RAP1GDS1	5910	broad.mit.edu	37	4	99339851	99339851	+	Missense_Mutation	SNP	A	A	C			TCGA-P5-A733-01A-11D-A32B-08	TCGA-P5-A733-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa30d54d-91d2-46aa-9db1-67a4ee42a4b5	a301d972-8e21-4d68-a1ff-cd3eb830f518	g.chr4:99339851A>C	ENST00000408927.3	+	10	1196	c.1083A>C	c.(1081-1083)aaA>aaC	p.K361N	RAP1GDS1_ENST00000264572.7_Missense_Mutation_p.K270N|RAP1GDS1_ENST00000453712.2_Missense_Mutation_p.K362N|RAP1GDS1_ENST00000408900.3_Missense_Mutation_p.K312N|RAP1GDS1_ENST00000339360.5_Missense_Mutation_p.K362N|RAP1GDS1_ENST00000380158.4_Missense_Mutation_p.K313N	NM_001100426.1|NM_001100427.1|NM_021159.4	NP_001093896.1|NP_001093897.1|NP_066982.3	P52306	GDS1_HUMAN	RAP1, GTP-GDP dissociation stimulator 1	361							binding|GTPase activator activity			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)	28				OV - Ovarian serous cystadenocarcinoma(123;2.9e-07)|LUSC - Lung squamous cell carcinoma(1;0.0253)|Lung(1;0.0576)		TTGTAGAAAAACTTATGGATT	0.343			T	NUP98	T-ALL								19	37					0	0	1	0	0	C	99339851	A	C	99339851	3	2	368	1	0	0	0	0	1	0	0	0	13091	40	2	5	1124	5	RAP1GDS1	4	99339851	Missense_Mutation	SNP	A	TCGA-P5-A733-01A-11D-A32B-08		99339851	91814425	15	32219											
GZMA	3001	broad.mit.edu	37	5	54403737	54403737	+	Missense_Mutation	SNP	C	C	T	rs150441571	byFrequency	TCGA-P5-A733-01A-11D-A32B-08	TCGA-P5-A733-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa30d54d-91d2-46aa-9db1-67a4ee42a4b5	a301d972-8e21-4d68-a1ff-cd3eb830f518	g.chr5:54403737C>T	ENST00000274306.6	+	3	366	c.331C>T	c.(331-333)Cgc>Tgc	p.R111C		NM_006144.3	NP_006135	P12544	GRAA_HUMAN	granzyme A (granzyme 1, cytotoxic T-lymphocyte-associated serine esterase 3)	111	Peptidase S1.				cleavage of lamin|cytolysis|immune response|negative regulation of DNA binding|negative regulation of endodeoxyribonuclease activity|negative regulation of oxidoreductase activity|positive regulation of apoptosis	extracellular region|immunological synapse|nucleus	protein homodimerization activity|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	25		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183)				CCCAGCCACACGCGAAGGTGA	0.443													11	92					0	0	1	0	0	T	54403737	C	T	54403737	3	4	368	1	0	0	0	0	1	0	0	0	6956	536	19	1	341	1	GZMA	5	54403737	Missense_Mutation	SNP	C	TCGA-P5-A733-01A-11D-A32B-08		54403737	126511523	16	32220											
ZNF366	167465	broad.mit.edu	37	5	71756905	71756905	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A733-01A-11D-A32B-08	TCGA-P5-A733-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa30d54d-91d2-46aa-9db1-67a4ee42a4b5	a301d972-8e21-4d68-a1ff-cd3eb830f518	g.chr5:71756905C>T	ENST00000318442.5	-	2	909	c.419G>A	c.(418-420)cGc>cAc	p.R140H		NM_152625.1	NP_689838.1	Q8N895	ZN366_HUMAN	zinc finger protein 366	140					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R140H(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		TTCCAGGCTGCGGTAGAATTG	0.632													54	88					0	0	1	0	0	T	71756905	C	T	71756905	3	4	368	1	0	0	0	0	1	0	0	0	17927	768	27	1	1831	1	ZNF366	5	71756905	Missense_Mutation	SNP	C	TCGA-P5-A733-01A-11D-A32B-08	17353168	71756905	109158355	17	32221											
ZNF292	23036	broad.mit.edu	37	6	87968469	87968469	+	Missense_Mutation	SNP	A	A	T			TCGA-P5-A733-01A-11D-A32B-08	TCGA-P5-A733-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa30d54d-91d2-46aa-9db1-67a4ee42a4b5	a301d972-8e21-4d68-a1ff-cd3eb830f518	g.chr6:87968469A>T	ENST00000369577.3	+	8	5165	c.5122A>T	c.(5122-5124)Acc>Tcc	p.T1708S	ZNF292_ENST00000339907.4_Missense_Mutation_p.T1703S	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	1708					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		GAATTTCAAAACCAGTCTTGA	0.328													3	24					0	0	1	0	0	T	87968469	A	T	87968469	3	4	368	1	0	0	0	0	1	0	0	0	17883	43	2	5	5152	5	ZNF292	6	87968469	Missense_Mutation	SNP	A	TCGA-P5-A733-01A-11D-A32B-08		87968469	83146598	18	32222											
AHI1	54806	broad.mit.edu	37	6	135784396	135784399	+	Frame_Shift_Del	DEL	TTCT	TTCT	-			TCGA-P5-A733-01A-11D-A32B-08	TCGA-P5-A733-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa30d54d-91d2-46aa-9db1-67a4ee42a4b5	a301d972-8e21-4d68-a1ff-cd3eb830f518	g.chr6:135784396_135784399delTTCT	ENST00000367800.4	-	6	1011_1014	c.795_798delAGAA	c.(793-798)aaagaafs	p.KE265fs	AHI1_ENST00000327035.6_Frame_Shift_Del_p.KE265fs|AHI1_ENST00000457866.2_Frame_Shift_Del_p.KE265fs	NM_001134830.1	NP_001128302.1	Q8N157	AHI1_HUMAN	Abelson helper integration site 1	265						adherens junction|cilium|microtubule basal body				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)	37	Breast(56;0.239)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)		TAACTGAAGATTCTTTCTTTTGTT	0.328													11	87	---	---	---	---						-	135784399	TTCT	-	135784396	7	5	368	1	0	1	0	1	0	0	0	0	410	1490	52	0	2937	0	AHI1	6	135784396	Frame_Shift_Del	DEL	TTCT	TCGA-P5-A733-01A-11D-A32B-08	47815927	135784396	35330671	19	32223											
AUTS2	26053	broad.mit.edu	37	7	69364410	69364410	+	Missense_Mutation	SNP	T	T	G			TCGA-P5-A733-01A-11D-A32B-08	TCGA-P5-A733-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa30d54d-91d2-46aa-9db1-67a4ee42a4b5	a301d972-8e21-4d68-a1ff-cd3eb830f518	g.chr7:69364410T>G	ENST00000342771.4	+	2	769	c.448T>G	c.(448-450)Tca>Gca	p.S150A	AUTS2_ENST00000403018.2_Missense_Mutation_p.S150A|AUTS2_ENST00000406775.2_Missense_Mutation_p.S150A	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	150										breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		CCACTACAGCTCAGATCGAGA	0.512													48	96					0	0	1	0	0	G	69364410	T	G	69364410	3	3	368	1	0	0	0	0	1	0	0	0	1223	1551	54	5	454	5	AUTS2	7	69364410	Missense_Mutation	SNP	T	TCGA-P5-A733-01A-11D-A32B-08		69364410	89774253	20	32224											
PLEC	5339	broad.mit.edu	37	8	144992998	144992998	+	Missense_Mutation	SNP	T	T	C			TCGA-P5-A733-01A-11D-A32B-08	TCGA-P5-A733-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa30d54d-91d2-46aa-9db1-67a4ee42a4b5	a301d972-8e21-4d68-a1ff-cd3eb830f518	g.chr8:144992998T>C	ENST00000322810.4	-	32	11571	c.11402A>G	c.(11401-11403)aAc>aGc	p.N3801S	PLEC_ENST00000357649.2_Missense_Mutation_p.N3668S|PLEC_ENST00000436759.2_Missense_Mutation_p.N3691S|PLEC_ENST00000354589.3_Missense_Mutation_p.N3664S|PLEC_ENST00000345136.3_Missense_Mutation_p.N3664S|PLEC_ENST00000356346.3_Missense_Mutation_p.N3650S|PLEC_ENST00000398774.2_Missense_Mutation_p.N3632S|PLEC_ENST00000527096.1_Missense_Mutation_p.N3687S|PLEC_ENST00000354958.2_Missense_Mutation_p.N3642S	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	3801	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CCGGAGCAGGTTGTAGGTCTC	0.657													4	53					0	0	1	0	0	C	144992998	T	C	144992998	3	2	368	1	0	0	0	0	1	0	0	0	12100	1725	60	3	2656	3	PLEC	8	144992998	Missense_Mutation	SNP	T	TCGA-P5-A733-01A-11D-A32B-08		144992998	1371024	21	32225											
IDI1	3422	broad.mit.edu	37	10	1089303	1089305	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-P5-A733-01A-11D-A32B-08	TCGA-P5-A733-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa30d54d-91d2-46aa-9db1-67a4ee42a4b5	a301d972-8e21-4d68-a1ff-cd3eb830f518	g.chr10:1089303_1089305delAAG	ENST00000381344.3	-	3	508_510	c.342_344delCTT	c.(340-345)ttctta>tta	p.F114del	IDI2-AS1_ENST00000428780.2_RNA|IDI1_ENST00000491735.1_5'UTR|IDI2-AS1_ENST00000437374.1_RNA|IDI2-AS1_ENST00000536039.1_RNA|IDI2-AS1_ENST00000420381.1_RNA	NM_004508.2	NP_004499.2	Q13907	IDI1_HUMAN	isopentenyl-diphosphate delta isomerase 1	57	Nudix hydrolase.				carotenoid biosynthetic process|cholesterol biosynthetic process	cytosol|peroxisome	hydrolase activity|isopentenyl-diphosphate delta-isomerase activity|metal ion binding			large_intestine(3)|lung(2)|prostate(1)	6		all_epithelial(10;0.107)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.221)	Epithelial(11;0.0972)		GGTGTTGAATAAGAAGACACTAA	0.34													9	73	---	---	---	---						-	1089305	AAG	-	1089303	7	5	368	1	0	1	0	1	0	0	0	0	7543	372	13	0	522	0	IDI1	10	1089303	In_Frame_Del	DEL	AAG	TCGA-P5-A733-01A-11D-A32B-08		1089303	134445444	22	32226											
ANO3	63982	broad.mit.edu	37	11	26569051	26569051	+	Missense_Mutation	SNP	T	T	C			TCGA-P5-A733-01A-11D-A32B-08	TCGA-P5-A733-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa30d54d-91d2-46aa-9db1-67a4ee42a4b5	a301d972-8e21-4d68-a1ff-cd3eb830f518	g.chr11:26569051T>C	ENST00000256737.3	+	12	2095	c.1243T>C	c.(1243-1245)Tgc>Cgc	p.C415R	ANO3_ENST00000537978.1_Missense_Mutation_p.C399R|ANO3_ENST00000529242.1_3'UTR|ANO3_ENST00000531568.1_Missense_Mutation_p.C269R|ANO3_ENST00000525139.1_Missense_Mutation_p.C399R	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	415						chloride channel complex	chloride channel activity			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						TGTTGGTTTGTGCGTTTTCTT	0.368													29	172					0	0	1	0	0	C	26569051	T	C	26569051	3	2	368	1	0	0	0	0	1	0	0	0	692	1696	59	3	1289	3	ANO3	11	26569051	Missense_Mutation	SNP	T	TCGA-P5-A733-01A-11D-A32B-08		26569051	108437465	23	32227											
VWF	7450	broad.mit.edu	37	12	6128017	6128017	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A733-01A-11D-A32B-08	TCGA-P5-A733-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa30d54d-91d2-46aa-9db1-67a4ee42a4b5	a301d972-8e21-4d68-a1ff-cd3eb830f518	g.chr12:6128017C>T	ENST00000261405.5	-	28	4821	c.4567G>A	c.(4567-4569)Gag>Aag	p.E1523K		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	1523	VWFA 2.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	TGAATCACCTCCTCCATGAAC	0.557													6	29					0	0	1	0	0	T	6128017	C	T	6128017	3	4	368	1	0	0	0	0	1	0	0	0	17306	864	30	2	3974	2	VWF	12	6128017	Missense_Mutation	SNP	C	TCGA-P5-A733-01A-11D-A32B-08		6128017	127723878	24	32228											
COL2A1	1280	broad.mit.edu	37	12	48372074	48372074	+	Splice_Site	SNP	C	C	T			TCGA-P5-A733-01A-11D-A32B-08	TCGA-P5-A733-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa30d54d-91d2-46aa-9db1-67a4ee42a4b5	a301d972-8e21-4d68-a1ff-cd3eb830f518	g.chr12:48372074C>T	ENST00000380518.3	-	43	3167	c.3003G>A	c.(3001-3003)tcG>tcA	p.S1001S	COL2A1_ENST00000337299.6_Splice_Site_p.S932S|COL2A1_ENST00000493991.1_5'UTR	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	1001	Triple-helical region.				axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	CCACACTCACCGACGGGCCAG	0.642													6	20					0	0	1	0	0	T	48372074	C	T	48372074	5	4	368	1	0	0	0	0	0	0	1	0	3710	666	23	1	1508	1	COL2A1	12	48372074	Splice_Site	SNP	C	TCGA-P5-A733-01A-11D-A32B-08	42244057	48372074	85479821	25	32229											
EP400	57634	broad.mit.edu	37	12	132549242	132549242	+	Silent	SNP	A	A	G			TCGA-P5-A733-01A-11D-A32B-08	TCGA-P5-A733-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa30d54d-91d2-46aa-9db1-67a4ee42a4b5	a301d972-8e21-4d68-a1ff-cd3eb830f518	g.chr12:132549242A>G	ENST00000333577.4	+	49	8581	c.8472A>G	c.(8470-8472)aaA>aaG	p.K2824K	EP400_ENST00000332482.4_Silent_p.K2751K|EP400_ENST00000330386.6_Silent_p.K2707K|EP400_ENST00000389561.2_Silent_p.K2788K|EP400_ENST00000389562.2_Silent_p.K2787K			Q96L91	EP400_HUMAN	E1A binding protein p400	2824					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		AGAAGCAGAAACTGCAGATGC	0.542													9	78					0	0	1	0	0	G	132549242	A	G	132549242	2	3	368	1	0	0	0	0	0	0	0	1	5177	40	2	3		3	EP400	12	132549242	Silent	SNP	A	TCGA-P5-A733-01A-11D-A32B-08	84177168	132549242	1302653	26	32230											
MYH7	4625	broad.mit.edu	37	14	23886878	23886878	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A733-01A-11D-A32B-08	TCGA-P5-A733-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa30d54d-91d2-46aa-9db1-67a4ee42a4b5	a301d972-8e21-4d68-a1ff-cd3eb830f518	g.chr14:23886878C>T	ENST00000355349.3	-	31	4349	c.4187G>A	c.(4186-4188)cGg>cAg	p.R1396Q		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1396					adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		TTCCTGCAGCCGCTGGGCCAG	0.587													8	33					0	0	1	0	0	T	23886878	C	T	23886878	3	4	368	1	0	0	0	0	1	0	0	0	10087	652	23	1	1660	1	MYH7	14	23886878	Missense_Mutation	SNP	C	TCGA-P5-A733-01A-11D-A32B-08		23886878	83462662	27	32231											
VSX2	338917	broad.mit.edu	37	14	74727463	74727463	+	Frame_Shift_Del	DEL	C	C	-			TCGA-P5-A733-01A-11D-A32B-08	TCGA-P5-A733-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa30d54d-91d2-46aa-9db1-67a4ee42a4b5	a301d972-8e21-4d68-a1ff-cd3eb830f518	g.chr14:74727463delC	ENST00000261980.2	+	5	1017	c.927delC	c.(925-927)ctcfs	p.L309fs		NM_182894.2	NP_878314.1	P58304	VSX2_HUMAN	visual system homeobox 2	309					multicellular organismal development|response to stimulus|visual perception	nucleolus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	7				BRCA - Breast invasive adenocarcinoma(234;0.00154)		TTGCGGTGCTCCGGGCCAAAG	0.662													2	4	---	---	---	---						-	74727463	C	-	74727463	7	5	368	1	0	1	0	1	0	0	0	0	17292	842	30	0	945	0	VSX2	14	74727463	Frame_Shift_Del	DEL	C	TCGA-P5-A733-01A-11D-A32B-08	50840585	74727463	32622077	28	32232											
ADCY9	115	broad.mit.edu	37	16	4165239	4165239	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A733-01A-11D-A32B-08	TCGA-P5-A733-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa30d54d-91d2-46aa-9db1-67a4ee42a4b5	a301d972-8e21-4d68-a1ff-cd3eb830f518	g.chr16:4165239C>T	ENST00000294016.3	-	2	743	c.205G>A	c.(205-207)Ggc>Agc	p.G69S		NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	69					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						CGGCCTCCGCCGCCCACTCGC	0.672													4	22					0	0	1	0	0	T	4165239	C	T	4165239	3	4	368	1	0	0	0	0	1	0	0	0	300	652	23	1	3896	1	ADCY9	16	4165239	Missense_Mutation	SNP	C	TCGA-P5-A733-01A-11D-A32B-08		4165239	86189514	29	32233											
MYH11	4629	broad.mit.edu	37	16	15870007	15870007	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A733-01A-11D-A32B-08	TCGA-P5-A733-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa30d54d-91d2-46aa-9db1-67a4ee42a4b5	a301d972-8e21-4d68-a1ff-cd3eb830f518	g.chr16:15870007G>A	ENST00000452625.2	-	9	925	c.838C>T	c.(838-840)Cgc>Tgc	p.R280C	MYH11_ENST00000396324.3_Missense_Mutation_p.R280C|MYH11_ENST00000576790.2_Missense_Mutation_p.R273C|MYH11_ENST00000300036.5_Missense_Mutation_p.R273C	NM_001040113.1	NP_001035202.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	273	Myosin head-like.				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						CTGGCTTGGCGAATTGCCCGT	0.488			T	CBFB	AML								14	209					0	0	1	0	0	A	15870007	G	A	15870007	3	1	368	1	0	0	0	0	1	0	0	0	10079	1058	37	1	5272	1	MYH11	16	15870007	Missense_Mutation	SNP	G	TCGA-P5-A733-01A-11D-A32B-08	11704768	15870007	74484746	30	32234											
SEZ6L2	26470	broad.mit.edu	37	16	29907101	29907101	+	Missense_Mutation	SNP	C	C	G			TCGA-P5-A733-01A-11D-A32B-08	TCGA-P5-A733-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa30d54d-91d2-46aa-9db1-67a4ee42a4b5	a301d972-8e21-4d68-a1ff-cd3eb830f518	g.chr16:29907101C>G	ENST00000308713.5	-	4	1119	c.592G>C	c.(592-594)Ggg>Cgg	p.G198R	SEZ6L2_ENST00000346932.5_Intron|SEZ6L2_ENST00000350527.3_Missense_Mutation_p.G128R|SEZ6L2_ENST00000537485.1_Missense_Mutation_p.G154R|SEZ6L2_ENST00000562159.1_Intron	NM_001114099.2|NM_201575.3	NP_001107571.1|NP_963869.2	Q6UXD5	SE6L2_HUMAN	seizure related 6 homolog (mouse)-like 2	198	CUB 1.					endoplasmic reticulum membrane|integral to membrane|plasma membrane				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TCCAGGAGCCCCAGGGTGCGG	0.547													26	41					0	0	1	0	0	G	29907101	C	G	29907101	3	3	368	1	0	0	0	0	1	0	0	0	14198	623	22	5	2239	5	SEZ6L2	16	29907101	Missense_Mutation	SNP	C	TCGA-P5-A733-01A-11D-A32B-08	14037094	29907101	60447652	31	32235											
TP53	7157	broad.mit.edu	37	17	7578400	7578400	+	Missense_Mutation	SNP	G	G	C			TCGA-P5-A733-01A-11D-A32B-08	TCGA-P5-A733-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa30d54d-91d2-46aa-9db1-67a4ee42a4b5	a301d972-8e21-4d68-a1ff-cd3eb830f518	g.chr17:7578400G>C	ENST00000420246.2	-	5	662	c.530C>G	c.(529-531)cCc>cGc	p.P177R	TP53_ENST00000359597.4_Missense_Mutation_p.P177R|TP53_ENST00000269305.4_Missense_Mutation_p.P177R|TP53_ENST00000413465.2_Missense_Mutation_p.P177R|TP53_ENST00000445888.2_Missense_Mutation_p.P177R|TP53_ENST00000455263.2_Missense_Mutation_p.P177R|TP53_ENST00000574684.1_5'UTR	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	177	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		CP -> FS (in a sporadic cancer; somatic mutation).|P -> A (in a sporadic cancer; somatic mutation).|P -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> H (in sporadic cancers; somatic mutation).|P -> I (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|P -> L (in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> S (in sporadic cancers; somatic mutation).|P -> T (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.P177R(18)|p.P177L(17)|p.P177_C182delPHHERC(8)|p.0?(8)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.P177H(3)|p.R175_E180delRCPHHE(3)|p.P177fs*3(2)|p.V173fs*59(2)|p.R174fs*1(2)|p.C176fs*65(1)|p.C176_P177delCP(1)|p.V173fs*69(1)|p.C176fs*68(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.P177fs*69(1)|p.R175_H178>X(1)|p.H168fs*69(1)|p.E171_H179delEVVRRCPHH(1)|p.P45R(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.P177I(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.P84R(1)|p.R174fs*3(1)|p.E171fs*61(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)		CTCATGGTGGGGGCAGCGCCT	0.647		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)			26	12					0	0	1	0	0	C	7578400	G	C	7578400	3	2	368	1	0	0	0	0	1	0	0	0	16442	1232	43	5	768	5	TP53	17	7578400	Missense_Mutation	SNP	G	TCGA-P5-A733-01A-11D-A32B-08		7578400	73616810	32	32236											
KSR1	8844	broad.mit.edu	37	17	25783779	25783779	+	Missense_Mutation	SNP	C	C	A	rs143611966	by1000genomes	TCGA-P5-A733-01A-11D-A32B-08	TCGA-P5-A733-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa30d54d-91d2-46aa-9db1-67a4ee42a4b5	a301d972-8e21-4d68-a1ff-cd3eb830f518	g.chr17:25783779C>A	ENST00000319524.6	+	1	110	c.110C>A	c.(109-111)gCg>gAg	p.A37E	KSR1_ENST00000509603.2_Missense_Mutation_p.A37E			Q8IVT5	KSR1_HUMAN	kinase suppressor of ras 1	35					Ras protein signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.A37E(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	28	Lung NSC(42;0.00836)		BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		GCCAGCCGGGCGCTGCAGCAG	0.741													3	7					6.4e-05	6.4e-05	1	1	0	A	25783779	C	A	25783779	3	1	368	1	0	0	0	0	1	0	0	0	8620	783	27	5		5	KSR1	17	25783779	Missense_Mutation	SNP	C	TCGA-P5-A733-01A-11D-A32B-08	18205379	25783779	55411431	33	32237											
SH2D3A	10045	broad.mit.edu	37	19	6754940	6754940	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A733-01A-11D-A32B-08	TCGA-P5-A733-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa30d54d-91d2-46aa-9db1-67a4ee42a4b5	a301d972-8e21-4d68-a1ff-cd3eb830f518	g.chr19:6754940G>A	ENST00000245908.6	-	5	1152	c.883C>T	c.(883-885)Cgg>Tgg	p.R295W	SH2D3A_ENST00000437152.3_Missense_Mutation_p.R173W	NM_005490.2	NP_005481.2	Q9BRG2	SH23A_HUMAN	SH2 domain containing 3A	295					JNK cascade|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|urinary_tract(1)	24						TCCAGGGGCCGATTCTGGGGG	0.592													27	136					0	0	1	0	0	A	6754940	G	A	6754940	3	1	368	1	0	0	0	0	1	0	0	0	14287	1057	37	1	871	1	SH2D3A	19	6754940	Missense_Mutation	SNP	G	TCGA-P5-A733-01A-11D-A32B-08		6754940	52374043	34	32238											
SIRPB2	284759	broad.mit.edu	37	20	1460549	1460549	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A733-01A-11D-A32B-08	TCGA-P5-A733-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa30d54d-91d2-46aa-9db1-67a4ee42a4b5	a301d972-8e21-4d68-a1ff-cd3eb830f518	g.chr20:1460549C>T	ENST00000359801.3	-	2	283	c.247G>A	c.(247-249)Gaa>Aaa	p.E83K	SIRPB2_ENST00000608747.1_Intron|SIRPB2_ENST00000537284.1_Intron|SIRPB2_ENST00000444444.2_Intron	NM_001122962.1	NP_001116434.1	Q5JXA9	SIRB2_HUMAN	signal-regulatory protein beta 2	83	Ig-like V-type 1.					integral to membrane				endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						TTATAAATTTCCTGTTGGTCC	0.463													8	93					0	0	1	0	0	T	1460549	C	T	1460549	3	4	368	1	0	0	0	0	1	0	0	0	14389	864	30	2	797	2	SIRPB2	20	1460549	Missense_Mutation	SNP	C	TCGA-P5-A733-01A-11D-A32B-08		1460549	61564971	35	32239											
FOXS1	2307	broad.mit.edu	37	20	30432875	30432875	+	Silent	SNP	C	C	T			TCGA-P5-A733-01A-11D-A32B-08	TCGA-P5-A733-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa30d54d-91d2-46aa-9db1-67a4ee42a4b5	a301d972-8e21-4d68-a1ff-cd3eb830f518	g.chr20:30432875C>T	ENST00000375978.3	-	1	545	c.471G>A	c.(469-471)gaG>gaA	p.E157E		NM_004118.3	NP_004109.1	O43638	FOXS1_HUMAN	forkhead box S1	157					anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|insulin receptor signaling pathway|lymphangiogenesis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|neural crest cell fate commitment|neuromuscular process controlling balance|Notch signaling pathway|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of multicellular organism growth|positive regulation of transcription from RNA polymerase II promoter|regulation of blood vessel size|regulation of organ growth|somitogenesis|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	transcription factor complex	chromatin DNA binding|DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			kidney(1)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	9						GATCTGGCAGCTCTGGTGGGA	0.687													6	19					0	0	1	0	0	T	30432875	C	T	30432875	2	4	368	1	0	0	0	0	0	0	0	1	6069	796	28	2		2	FOXS1	20	30432875	Silent	SNP	C	TCGA-P5-A733-01A-11D-A32B-08	28972326	30432875	32592645	36	32240											
HCK	3055	broad.mit.edu	37	20	30676404	30676404	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A733-01A-11D-A32B-08	TCGA-P5-A733-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa30d54d-91d2-46aa-9db1-67a4ee42a4b5	a301d972-8e21-4d68-a1ff-cd3eb830f518	g.chr20:30676404G>A	ENST00000534862.1	+	11	1352	c.989G>A	c.(988-990)gGc>gAc	p.G330D	HCK_ENST00000375852.2_Missense_Mutation_p.G350D|HCK_ENST00000518730.1_Missense_Mutation_p.G328D|HCK_ENST00000520553.1_Missense_Mutation_p.G329D|HCK_ENST00000538448.1_Missense_Mutation_p.G329D|HCK_ENST00000375862.2_Missense_Mutation_p.G349D	NM_001172132.1	NP_001165603.1	P08631	HCK_HUMAN	hemopoietic cell kinase	350	Protein kinase.				interspecies interaction between organisms|mesoderm development|regulation of defense response to virus by virus|viral reproduction	caveola|cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(4)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			AGTGATGAGGGCAGCAAGCAG	0.438													14	35					0	0	1	0	0	A	30676404	G	A	30676404	3	1	368	1	0	0	0	0	1	0	0	0	7035	1203	42	2	1093	2	HCK	20	30676404	Missense_Mutation	SNP	G	TCGA-P5-A733-01A-11D-A32B-08	243529	30676404	32349116	37	32241											
GGT7	2686	broad.mit.edu	37	20	33439994	33439994	+	Nonsense_Mutation	SNP	C	C	T			TCGA-P5-A733-01A-11D-A32B-08	TCGA-P5-A733-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa30d54d-91d2-46aa-9db1-67a4ee42a4b5	a301d972-8e21-4d68-a1ff-cd3eb830f518	g.chr20:33439994C>T	ENST00000336431.5	-	12	1595	c.1551G>A	c.(1549-1551)tgG>tgA	p.W517*	GGT7_ENST00000469018.1_5'UTR	NM_178026.2	NP_821158.2	Q9UJ14	GGT7_HUMAN	gamma-glutamyltransferase 7	517					glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity			NS(2)|breast(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)	20						TCCGGTTGGGCCAGGAGAAGT	0.617													8	21					0	0	1	0	0	T	33439994	C	T	33439994	4	4	368	1	0	0	0	0	0	1	0	0	6406	740	26	2	453	2	GGT7	20	33439994	Nonsense_Mutation	SNP	C	TCGA-P5-A733-01A-11D-A32B-08	2763590	33439994	29585526	38	32242											
RALGAPB	57148	broad.mit.edu	37	20	37174929	37174929	+	Missense_Mutation	SNP	G	G	T			TCGA-P5-A733-01A-11D-A32B-08	TCGA-P5-A733-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa30d54d-91d2-46aa-9db1-67a4ee42a4b5	a301d972-8e21-4d68-a1ff-cd3eb830f518	g.chr20:37174929G>T	ENST00000262879.6	+	19	3042	c.2758G>T	c.(2758-2760)Gcc>Tcc	p.A920S	RALGAPB_ENST00000397042.3_Missense_Mutation_p.A916S|RALGAPB_ENST00000397038.1_Missense_Mutation_p.A698S|RALGAPB_ENST00000397040.1_Missense_Mutation_p.A920S			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	920					activation of Ral GTPase activity	intracellular	protein heterodimerization activity|Ral GTPase activator activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						TAGTGGTCCTGCCTCTCCTTG	0.418													18	80					3.32936e-07	3.38881e-07	1	1	0	T	37174929	G	T	37174929	3	4	368	1	0	0	0	0	1	0	0	0	13067	1319	46	5	2828	5	RALGAPB	20	37174929	Missense_Mutation	SNP	G	TCGA-P5-A733-01A-11D-A32B-08	3734935	37174929	25850591	39	32243											
BAGE2	85319	broad.mit.edu	37	21	11058322	11058322	+	RNA	SNP	C	C	T			TCGA-P5-A733-01A-11D-A32B-08	TCGA-P5-A733-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa30d54d-91d2-46aa-9db1-67a4ee42a4b5	a301d972-8e21-4d68-a1ff-cd3eb830f518	g.chr21:11058322C>T	ENST00000470054.1	-	0	325									B melanoma antigen family, member 2															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	0.383													9	224					0	0	1	0	0	T	11058322	C	T	11058322	1	4	368	0	1	0	0	0	0	0	0	0	1290	898	31	1		1	BAGE2	21	11058322	RNA	SNP	C	TCGA-P5-A733-01A-11D-A32B-08		11058322	37071573	40	32244											
PI4KA	5297	broad.mit.edu	37	22	21064202	21064202	+	Frame_Shift_Del	DEL	A	A	-			TCGA-P5-A733-01A-11D-A32B-08	TCGA-P5-A733-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa30d54d-91d2-46aa-9db1-67a4ee42a4b5	a301d972-8e21-4d68-a1ff-cd3eb830f518	g.chr22:21064202delA	ENST00000255882.6	-	53	6253	c.6167delT	c.(6166-6168)ctcfs	p.L2057fs	PI4KA_ENST00000572273.1_Frame_Shift_Del_p.L1999fs|PI4KA_ENST00000414196.3_Frame_Shift_Del_p.L809fs	NM_058004.3	NP_477352.3	P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	1999					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			CTACTTCAAGAGCTTGATTGT	0.552													12	37	---	---	---	---						-	21064202	A	-	21064202	7	5	368	1	0	1	0	1	0	0	0	0	11921	304	11	0	153	0	PI4KA	22	21064202	Frame_Shift_Del	DEL	A	TCGA-P5-A733-01A-11D-A32B-08		21064202	30240364	41	32245											
TLR7	51284	broad.mit.edu	37	X	12904513	12904513	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A733-01A-11D-A32B-08	TCGA-P5-A733-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa30d54d-91d2-46aa-9db1-67a4ee42a4b5	a301d972-8e21-4d68-a1ff-cd3eb830f518	g.chrX:12904513C>T	ENST00000380659.3	+	3	1025	c.886C>T	c.(886-888)Cgt>Tgt	p.R296C		NM_016562.3	NP_057646.1	Q9NYK1	TLR7_HUMAN	toll-like receptor 7	296					cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus	early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane	double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity			NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44					Imiquimod(DB00724)	AAAAGTTTTACGTCTACACAG	0.418													68	59					0	0	1	0	0	T	12904513	C	T	12904513	3	4	368	1	0	0	0	0	1	0	0	0	16016	536	19	1	892	1	TLR7	23	12904513	Missense_Mutation	SNP	C	TCGA-P5-A733-01A-11D-A32B-08		12904513	142366047	42	32246											
OTUD6A	139562	broad.mit.edu	37	X	69282578	69282578	+	Silent	SNP	C	C	T			TCGA-P5-A733-01A-11D-A32B-08	TCGA-P5-A733-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa30d54d-91d2-46aa-9db1-67a4ee42a4b5	a301d972-8e21-4d68-a1ff-cd3eb830f518	g.chrX:69282578C>T	ENST00000338352.2	+	1	238	c.204C>T	c.(202-204)gaC>gaT	p.D68D		NM_207320.1	NP_997203.1	Q7L8S5	OTU6A_HUMAN	OTU domain containing 6A	68										autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(3)|urinary_tract(1)	23						AGTTCCAAGACGACAGTAGCA	0.547													3	17					0	0	1	0	0	T	69282578	C	T	69282578	2	4	368	1	0	0	0	0	0	0	0	1	11363	535	19	1		1	OTUD6A	23	69282578	Silent	SNP	C	TCGA-P5-A733-01A-11D-A32B-08	56378065	69282578	85987982	43	32247											
FOXO4	4303	broad.mit.edu	37	X	70320668	70320668	+	Silent	SNP	C	C	T			TCGA-P5-A733-01A-11D-A32B-08	TCGA-P5-A733-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa30d54d-91d2-46aa-9db1-67a4ee42a4b5	a301d972-8e21-4d68-a1ff-cd3eb830f518	g.chrX:70320668C>T	ENST00000374259.3	+	2	920	c.588C>T	c.(586-588)gcC>gcT	p.A196A	FOXO4_ENST00000341558.3_Silent_p.A141A	NM_001170931.1|NM_005938.3	NP_001164402.1|NP_005929.2	P98177	FOXO4_HUMAN	forkhead box O4	196					cell cycle arrest|cell differentiation|embryo development|G1 phase of mitotic cell cycle|insulin receptor signaling pathway|mitotic cell cycle G2/M transition DNA damage checkpoint|muscle organ development|negative regulation of angiogenesis|negative regulation of cell proliferation|negative regulation of smooth muscle cell differentiation|nerve growth factor receptor signaling pathway|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|tissue development	cytosol|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)	18	Renal(35;0.156)					gccgggccgccTCCATGGATA	0.622											OREG0019856	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	12					0	0	1	0	0	T	70320668	C	T	70320668	2	4	368	1	0	0	0	0	0	0	0	1	6059	668	24	2		2	FOXO4	23	70320668	Silent	SNP	C	TCGA-P5-A733-01A-11D-A32B-08	1038090	70320668	84949892	44	32248											
ATRX	546	broad.mit.edu	37	X	76937833	76937836	+	Frame_Shift_Del	DEL	TCTT	TCTT	-			TCGA-P5-A733-01A-11D-A32B-08	TCGA-P5-A733-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa30d54d-91d2-46aa-9db1-67a4ee42a4b5	a301d972-8e21-4d68-a1ff-cd3eb830f518	g.chrX:76937833_76937836delTCTT	ENST00000373344.5	-	9	3126_3129	c.2912_2915delAAGA	c.(2911-2916)aaagacfs	p.KD971fs	ATRX_ENST00000395603.3_Frame_Shift_Del_p.KD933fs|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	971					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)	ATCGCTCTGGTCTTTCTTTAGGAA	0.324			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						100	129	---	---	---	---						-	76937836	TCTT	-	76937833	7	5	368	1	0	1	0	1	0	0	0	0	1206	1667	58	0	4671	0	ATRX	23	76937833	Frame_Shift_Del	DEL	TCTT	TCGA-P5-A733-01A-11D-A32B-08	6617165	76937833	78332727	45	32249											
OPN1MW2	728458	broad.mit.edu	37	X	153496081	153496081	+	Missense_Mutation	SNP	T	T	G			TCGA-P5-A733-01A-11D-A32B-08	TCGA-P5-A733-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa30d54d-91d2-46aa-9db1-67a4ee42a4b5	a301d972-8e21-4d68-a1ff-cd3eb830f518	g.chrX:153496081T>G	ENST00000369929.4	+	5	869	c.809T>G	c.(808-810)gTg>gGg	p.V270G	OPN1MW2_ENST00000488220.1_3'UTR	NM_001048181.2	NP_001041646.1			opsin 1 (cone pigments), medium-wave-sensitive 2											haematopoietic_and_lymphoid_tissue(1)|lung(1)|prostate(1)|stomach(2)|urinary_tract(1)	6	all_cancers(53;1.83e-16)|all_epithelial(53;2.73e-10)|all_lung(58;6.39e-07)|Lung NSC(58;8.37e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					ACGCGCATGGTGGTGGTGATG	0.572													17	21					0	0	1	0	0	G	153496081	T	G	153496081	3	3	368	1	0	0	0	0	1	0	0	0	10927	1696	59	5	1946	5	OPN1MW2	23	153496081	Missense_Mutation	SNP	T	TCGA-P5-A733-01A-11D-A32B-08	76558248	153496081	1774479	46	32250											
ARID1A	8289	broad.mit.edu	37	1	27101374	27101374	+	Silent	SNP	G	G	A			TCGA-P5-A735-01A-11D-A32B-08	TCGA-P5-A735-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28480ed8-d453-475f-a928-b02e55a6cb6e	a23c762e-4fd9-4110-9ee0-405694453b4f	g.chr1:27101374G>A	ENST00000324856.7	+	18	5027	c.4656G>A	c.(4654-4656)caG>caA	p.Q1552Q	ARID1A_ENST00000457599.2_Intron|ARID1A_ENST00000374152.2_Silent_p.Q1169Q|ARID1A_ENST00000540690.1_Intron	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1552					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GCACACGCCAGCCCCCATATG	0.597			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"								10	13					0	0	1	0	0	A	27101374	G	A	27101374	2	1	369	1	0	0	0	0	0	0	0	1	910	962	34	2		2	ARID1A	1	27101374	Silent	SNP	G	TCGA-P5-A735-01A-11D-A32B-08		27101374	222149247	1	32251											
MEX3A	92312	broad.mit.edu	37	1	156046687	156046689	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-P5-A735-01A-11D-A32B-08	TCGA-P5-A735-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28480ed8-d453-475f-a928-b02e55a6cb6e	a23c762e-4fd9-4110-9ee0-405694453b4f	g.chr1:156046687_156046689delGAG	ENST00000532414.2	-	2	1238_1240	c.1239_1241delCTC	c.(1237-1242)tcctct>tct	p.413_414SS>S		NM_001093725.1	NP_001087194.1	A1L020	MEX3A_HUMAN	mex-3 RNA binding family member A	413	Poly-Ser.					cytoplasmic mRNA processing body|nucleus	RNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)	9	Hepatocellular(266;0.158)|all_neural(408;0.195)					CTTGGCggaagaggaggaggagg	0.744													2	4	---	---	---	---						-	156046689	GAG	-	156046687	7	5	369	1	0	1	0	1	0	0	0	0	9559	942	33	0	325	0	MEX3A	1	156046687	In_Frame_Del	DEL	GAG	TCGA-P5-A735-01A-11D-A32B-08	128945313	156046687	93203934	2	32252											
SPTA1	6708	broad.mit.edu	37	1	158641928	158641928	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A735-01A-11D-A32B-08	TCGA-P5-A735-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28480ed8-d453-475f-a928-b02e55a6cb6e	a23c762e-4fd9-4110-9ee0-405694453b4f	g.chr1:158641928C>T	ENST00000368147.4	-	11	1589	c.1409G>A	c.(1408-1410)cGt>cAt	p.R470H		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)						actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CTCATACTGACGATGACGCTC	0.453													31	23					0	0	1	0	0	T	158641928	C	T	158641928	3	4	369	1	0	0	0	0	1	0	0	0	15172	536	19	1	6018	1	SPTA1	1	158641928	Missense_Mutation	SNP	C	TCGA-P5-A735-01A-11D-A32B-08	2595241	158641928	90608693	3	32253											
OTOF	9381	broad.mit.edu	37	2	26684997	26684997	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A735-01A-11D-A32B-08	TCGA-P5-A735-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28480ed8-d453-475f-a928-b02e55a6cb6e	a23c762e-4fd9-4110-9ee0-405694453b4f	g.chr2:26684997C>T	ENST00000272371.2	-	42	5371	c.5245G>A	c.(5245-5247)Gac>Aac	p.D1749N	OTOF_ENST00000403946.3_Missense_Mutation_p.D1749N|OTOF_ENST00000402415.3_Missense_Mutation_p.D1059N|OTOF_ENST00000338581.6_Missense_Mutation_p.D982N|OTOF_ENST00000339598.3_Missense_Mutation_p.D982N	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	1749					cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AAGAAGTCGTCGTCCTCCAAG	0.607													6	127					0	0	1	0	0	T	26684997	C	T	26684997	3	4	369	1	0	0	0	0	1	0	0	0	11350	884	31	1	953	1	OTOF	2	26684997	Missense_Mutation	SNP	C	TCGA-P5-A735-01A-11D-A32B-08		26684997	216514376	4	32254											
CEBPZ	10153	broad.mit.edu	37	2	37447581	37447581	+	Missense_Mutation	SNP	T	T	C			TCGA-P5-A735-01A-11D-A32B-08	TCGA-P5-A735-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28480ed8-d453-475f-a928-b02e55a6cb6e	a23c762e-4fd9-4110-9ee0-405694453b4f	g.chr2:37447581T>C	ENST00000234170.5	-	5	2246	c.2101A>G	c.(2101-2103)Aga>Gga	p.R701G		NM_005760.2	NP_005751.2	Q03701	CEBPZ_HUMAN	CCAAT/enhancer binding protein (C/EBP), zeta	701					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding			breast(3)|endometrium(2)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28		all_hematologic(82;0.21)				AGAGGGTTTCTACTGAATGGA	0.308													8	13					0	0	1	0	0	C	37447581	T	C	37447581	3	2	369	1	0	0	0	0	1	0	0	0	3226	1530	53	3	1111	3	CEBPZ	2	37447581	Missense_Mutation	SNP	T	TCGA-P5-A735-01A-11D-A32B-08	10762584	37447581	205751792	5	32255											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-P5-A735-01A-11D-A32B-08	TCGA-P5-A735-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28480ed8-d453-475f-a928-b02e55a6cb6e	a23c762e-4fd9-4110-9ee0-405694453b4f	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	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								25	26					0	0	1	0	0	T	209113112	C	T	209113112	3	4	369	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-P5-A735-01A-11D-A32B-08	171665531	209113112	34086261	6	32256											
SLC11A1	6556	broad.mit.edu	37	2	219251432	219251432	+	Silent	SNP	G	G	A			TCGA-P5-A735-01A-11D-A32B-08	TCGA-P5-A735-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28480ed8-d453-475f-a928-b02e55a6cb6e	a23c762e-4fd9-4110-9ee0-405694453b4f	g.chr2:219251432G>A	ENST00000233202.6	+	5	808	c.468G>A	c.(466-468)acG>acA	p.T156T	SLC11A1_ENST00000539932.1_Silent_p.T38T	NM_000578.3	NP_000569.3	P49279	NRAM1_HUMAN	solute carrier family 11 (proton-coupled divalent metal ion transporter), member 1	156					activation of protein kinase activity|antigen processing and presentation of peptide antigen|cadmium ion transmembrane transport|cellular cadmium ion homeostasis|cellular iron ion homeostasis|defense response to Gram-negative bacterium|defense response to protozoan|divalent metal ion export|inflammatory response|interleukin-2 production|interleukin-3 production|iron ion transport|L-arginine import|macrophage activation|MHC class II biosynthetic process|mRNA stabilization|multicellular organismal iron ion homeostasis|negative regulation of cytokine production|nitrite transport|phagocytosis|positive regulation of dendritic cell antigen processing and presentation|positive regulation of interferon-gamma production|positive regulation of phagocytosis|positive regulation of T-helper 1 type immune response|positive regulation of transcription from RNA polymerase II promoter|respiratory burst|response to interferon-gamma|response to lipopolysaccharide|T cell cytokine production|T cell proliferation involved in immune response|vacuolar acidification|wound healing	integral to plasma membrane|late endosome membrane|lysosome|phagocytic vesicle membrane|tertiary granule membrane	manganese ion transmembrane transporter activity|metal ion:hydrogen antiporter activity|protein homodimerization activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	19		Renal(207;0.0474)		Epithelial(149;1.16e-06)|all cancers(144;0.000195)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TCATCGGCACGGCCATTGCAT	0.582													11	14					0	0	1	0	0	A	219251432	G	A	219251432	2	1	369	1	0	0	0	0	0	0	0	1	14435	1103	39	1		1	SLC11A1	2	219251432	Silent	SNP	G	TCGA-P5-A735-01A-11D-A32B-08	10138320	219251432	23947941	7	32257											
CNTN4	152330	broad.mit.edu	37	3	3084667	3084667	+	Missense_Mutation	SNP	T	T	A			TCGA-P5-A735-01A-11D-A32B-08	TCGA-P5-A735-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28480ed8-d453-475f-a928-b02e55a6cb6e	a23c762e-4fd9-4110-9ee0-405694453b4f	g.chr3:3084667T>A	ENST00000397461.1	+	21	2902	c.2518T>A	c.(2518-2520)Tat>Aat	p.Y840N	CNTN4_ENST00000448906.2_Missense_Mutation_p.Y512N|CNTN4_ENST00000397459.2_Missense_Mutation_p.Y512N|CNTN4_ENST00000358480.3_Missense_Mutation_p.Y621N|CNTN4_ENST00000418658.1_Missense_Mutation_p.Y840N|CNTN4-AS1_ENST00000442749.2_RNA|CNTN4_ENST00000427331.1_Missense_Mutation_p.Y840N	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	840	Fibronectin type-III 3.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		TTAGGTTAAATATTGGAGACA	0.353													13	23					0	0	1	0	0	A	3084667	T	A	3084667	3	1	369	1	0	0	0	0	1	0	0	0	3666	1406	49	4	2592	4	CNTN4	3	3084667	Missense_Mutation	SNP	T	TCGA-P5-A735-01A-11D-A32B-08		3084667	194937763	8	32258											
COLQ	8292	broad.mit.edu	37	3	15516986	15516986	+	Frame_Shift_Del	DEL	T	T	-			TCGA-P5-A735-01A-11D-A32B-08	TCGA-P5-A735-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28480ed8-d453-475f-a928-b02e55a6cb6e	a23c762e-4fd9-4110-9ee0-405694453b4f	g.chr3:15516986delT	ENST00000383785.2	-	7	599	c.474delA	c.(472-474)aaafs	p.K158fs	COLQ_ENST00000435459.2_Frame_Shift_Del_p.K148fs|COLQ_ENST00000383786.5_Frame_Shift_Del_p.K124fs|COLQ_ENST00000383787.2_Frame_Shift_Del_p.K149fs|COLQ_ENST00000603808.1_Frame_Shift_Del_p.K158fs|COLQ_ENST00000383781.4_Frame_Shift_Del_p.K148fs|COLQ_ENST00000383788.5_Frame_Shift_Del_p.K158fs			Q9Y215	COLQ_HUMAN	collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase	158	Collagen-like 1.				acetylcholine catabolic process in synaptic cleft|asymmetric protein localization	basal lamina|cell junction|collagen|extracellular space|synaptic cleft				endometrium(2)|large_intestine(4)|lung(10)|skin(3)	19						CCAGGTCACCTTTTTCACCCT	0.507													2	4	---	---	---	---						-	15516986	T	-	15516986	7	5	369	1	0	1	0	1	0	0	0	0	3736	1606	56	0	937	0	COLQ	3	15516986	Frame_Shift_Del	DEL	T	TCGA-P5-A735-01A-11D-A32B-08	12432319	15516986	182505444	9	32259											
CCDC110	256309	broad.mit.edu	37	4	186379853	186379853	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A735-01A-11D-A32B-08	TCGA-P5-A735-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28480ed8-d453-475f-a928-b02e55a6cb6e	a23c762e-4fd9-4110-9ee0-405694453b4f	g.chr4:186379853G>A	ENST00000307588.3	-	6	1963	c.1888C>T	c.(1888-1890)Ctt>Ttt	p.L630F	CCDC110_ENST00000510617.1_Missense_Mutation_p.L630F|CCDC110_ENST00000393540.3_Missense_Mutation_p.L593F	NM_152775.3	NP_689988.1	Q8TBZ0	CC110_HUMAN	coiled-coil domain containing 110	630						nucleus				NS(1)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(9)	30		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749)		OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164)		ATTTGAAGAAGTGTCTCTTGT	0.328													24	67					0	0	1	0	0	A	186379853	G	A	186379853	3	1	369	1	0	0	0	0	1	0	0	0	2765	1029	36	2	621	2	CCDC110	4	186379853	Missense_Mutation	SNP	G	TCGA-P5-A735-01A-11D-A32B-08		186379853	4774423	10	32260											
FAT1	2195	broad.mit.edu	37	4	187532792	187532792	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A735-01A-11D-A32B-08	TCGA-P5-A735-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28480ed8-d453-475f-a928-b02e55a6cb6e	a23c762e-4fd9-4110-9ee0-405694453b4f	g.chr4:187532792C>T	ENST00000441802.2	-	14	9810	c.9601G>A	c.(9601-9603)Gct>Act	p.A3201T		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	3201	Cadherin 29.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TGATCCACAGCTTTCAAAGAG	0.453										HNSCC(5;0.00058)			4	12					0	0	1	0	0	T	187532792	C	T	187532792	3	4	369	1	0	0	0	0	1	0	0	0	5722	797	28	2	4221	2	FAT1	4	187532792	Missense_Mutation	SNP	C	TCGA-P5-A735-01A-11D-A32B-08	1152939	187532792	3621484	11	32261											
ADAMTS19	171019	broad.mit.edu	37	5	128862012	128862012	+	Missense_Mutation	SNP	A	A	G			TCGA-P5-A735-01A-11D-A32B-08	TCGA-P5-A735-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28480ed8-d453-475f-a928-b02e55a6cb6e	a23c762e-4fd9-4110-9ee0-405694453b4f	g.chr5:128862012A>G	ENST00000274487.4	+	4	1076	c.931A>G	c.(931-933)Agt>Ggt	p.S311G	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	311					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		AATAGCAGAAAGTGGAAGAGG	0.363													21	22					0	0	1	0	0	G	128862012	A	G	128862012	3	3	369	1	0	0	0	0	1	0	0	0	263	72	3	3	945	3	ADAMTS19	5	128862012	Missense_Mutation	SNP	A	TCGA-P5-A735-01A-11D-A32B-08		128862012	52053248	12	32262											
SLC17A2	10246	broad.mit.edu	37	6	25921307	25921307	+	Silent	SNP	T	T	A			TCGA-P5-A735-01A-11D-A32B-08	TCGA-P5-A735-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28480ed8-d453-475f-a928-b02e55a6cb6e	a23c762e-4fd9-4110-9ee0-405694453b4f	g.chr6:25921307T>A	ENST00000377850.3	-	5	1013	c.489A>T	c.(487-489)acA>acT	p.T163T	SLC17A2_ENST00000360488.3_Silent_p.T163T|SLC17A2_ENST00000265425.3_Silent_p.T163T			O00624	NPT3_HUMAN	solute carrier family 17, member 2	163					phosphate metabolic process	integral to plasma membrane|membrane fraction	sodium:phosphate symporter activity			endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	31						TAAACTGACCTGTCCATGCCA	0.433													13	22					0	0	1	0	0	A	25921307	T	A	25921307	2	1	369	1	0	0	0	0	0	0	0	1	14472	1567	55	5		5	SLC17A2	6	25921307	Silent	SNP	T	TCGA-P5-A735-01A-11D-A32B-08		25921307	145193760	13	32263											
KIFC1	3833	broad.mit.edu	37	6	33372952	33372953	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-P5-A735-01A-11D-A32B-08	TCGA-P5-A735-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28480ed8-d453-475f-a928-b02e55a6cb6e	a23c762e-4fd9-4110-9ee0-405694453b4f	g.chr6:33372952_33372953delGA	ENST00000428849.2	+	7	1530_1531	c.1080_1081delGA	c.(1078-1083)ctgagtfs	p.S361fs		NM_002263.3	NP_002254.2	Q9BW19	KIFC1_HUMAN	kinesin family member C1	361	Kinesin-motor.				blood coagulation|cell division|microtubule-based movement|mitotic sister chromatid segregation	early endosome|microtubule|microtubule associated complex|microtubule organizing center|nucleus|spindle	ATP binding|microtubule motor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	13						GTGGGACCCTGAGTGGGGCACC	0.609													55	60	---	---	---	---						-	33372953	GA	-	33372952	7	5	369	1	0	1	0	1	0	0	0	0	8354	1277	45	0	1106	0	KIFC1	6	33372952	Frame_Shift_Del	DEL	GA	TCGA-P5-A735-01A-11D-A32B-08	7451645	33372952	137742115	14	32264											
INSIG1	3638	broad.mit.edu	37	7	155090103	155090105	+	In_Frame_Del	DEL	GAT	GAT	-			TCGA-P5-A735-01A-11D-A32B-08	TCGA-P5-A735-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28480ed8-d453-475f-a928-b02e55a6cb6e	a23c762e-4fd9-4110-9ee0-405694453b4f	g.chr7:155090103_155090105delGAT	ENST00000340368.4	+	2	319_321	c.108_110delGAT	c.(106-111)gagatg>gag	p.M37del	INSIG1_ENST00000344756.4_Intron|INSIG1_ENST00000342407.5_In_Frame_Del_p.M37del	NM_005542.4	NP_005533.2	O15503	INSI1_HUMAN	insulin induced gene 1	37					cell proliferation|ER-nuclear sterol response pathway	endoplasmic reticulum membrane|integral to membrane	protein binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(11)|prostate(1)|upper_aerodigestive_tract(2)	19	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AGGTTGGGGAGATGATCAACGTT	0.744													4	3	---	---	---	---						-	155090105	GAT	-	155090103	7	5	369	1	0	1	0	1	0	0	0	0	7809	933	33	0	110	0	INSIG1	7	155090103	In_Frame_Del	DEL	GAT	TCGA-P5-A735-01A-11D-A32B-08		155090103	4048560	15	32265											
TACC2	10579	broad.mit.edu	37	10	123843843	123843843	+	Missense_Mutation	SNP	G	G	C			TCGA-P5-A735-01A-11D-A32B-08	TCGA-P5-A735-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28480ed8-d453-475f-a928-b02e55a6cb6e	a23c762e-4fd9-4110-9ee0-405694453b4f	g.chr10:123843843G>C	ENST00000369005.1	+	4	2168	c.1828G>C	c.(1828-1830)Gta>Cta	p.V610L	TACC2_ENST00000515603.1_Missense_Mutation_p.V610L|TACC2_ENST00000515273.1_Missense_Mutation_p.V610L|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000453444.2_Missense_Mutation_p.V610L|TACC2_ENST00000334433.3_Missense_Mutation_p.V610L|TACC2_ENST00000513429.1_Intron	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	610						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				TGATCCAGAAGTAGGCAAAGA	0.572													13	19					0	0	1	0	0	C	123843843	G	C	123843843	3	2	369	1	0	0	0	0	1	0	0	0	15559	1029	36	4	1838	4	TACC2	10	123843843	Missense_Mutation	SNP	G	TCGA-P5-A735-01A-11D-A32B-08		123843843	11690904	16	32266											
SPON1	10418	broad.mit.edu	37	11	14284600	14284600	+	RNA	DEL	A	A	-	rs79477301		TCGA-P5-A735-01A-11D-A32B-08	TCGA-P5-A735-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28480ed8-d453-475f-a928-b02e55a6cb6e	a23c762e-4fd9-4110-9ee0-405694453b4f	g.chr11:14284600delA	ENST00000310358.7	+	0	2795				RP11-21L19.1_ENST00000534587.1_RNA			Q9HCB6	SPON1_HUMAN	spondin 1, extracellular matrix protein						cell adhesion	extracellular space|proteinaceous extracellular matrix	protein binding			NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	21				Epithelial(150;0.00898)		GGACCTGTTTaaaaaaaaaaa	0.463													3	4	---	---	---	---						-	14284600	A	-	14284600	6	5	369	0	1	1	0	1	0	0	0	0	15138	377	13	0		0	SPON1	11	14284600	RNA	DEL	A	TCGA-P5-A735-01A-11D-A32B-08		14284600	120721916	17	32267											
AGBL2	79841	broad.mit.edu	37	11	47731973	47731973	+	Missense_Mutation	SNP	T	T	C			TCGA-P5-A735-01A-11D-A32B-08	TCGA-P5-A735-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28480ed8-d453-475f-a928-b02e55a6cb6e	a23c762e-4fd9-4110-9ee0-405694453b4f	g.chr11:47731973T>C	ENST00000525123.1	-	4	473	c.188A>G	c.(187-189)aAa>aGa	p.K63R	AGBL2_ENST00000528244.1_Missense_Mutation_p.K63R|AGBL2_ENST00000529712.1_5'UTR|AGBL2_ENST00000357610.3_Missense_Mutation_p.K63R|AGBL2_ENST00000298861.4_Missense_Mutation_p.K63R	NM_024783.3	NP_079059.2	Q5U5Z8	CBPC2_HUMAN	ATP/GTP binding protein-like 2	63					proteolysis	cytosol	metallocarboxypeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)	34						CAAATCATCTTTTTCCCCAAG	0.433													7	120					0	0	1	0	0	C	47731973	T	C	47731973	3	2	369	1	0	0	0	0	1	0	0	0	373	1841	64	3	2584	3	AGBL2	11	47731973	Missense_Mutation	SNP	T	TCGA-P5-A735-01A-11D-A32B-08	33447373	47731973	87274543	18	32268											
TMEM19	55266	broad.mit.edu	37	12	72094726	72094726	+	Missense_Mutation	SNP	T	T	C			TCGA-P5-A735-01A-11D-A32B-08	TCGA-P5-A735-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28480ed8-d453-475f-a928-b02e55a6cb6e	a23c762e-4fd9-4110-9ee0-405694453b4f	g.chr12:72094726T>C	ENST00000266673.5	+	6	1556	c.962T>C	c.(961-963)aTt>aCt	p.I321T		NM_018279.3	NP_060749.2	Q96HH6	TMM19_HUMAN	transmembrane protein 19	321						integral to membrane				large_intestine(1)|lung(8)	9		Breast(359;0.0889)		GBM - Glioblastoma multiforme(134;0.044)		TCTGTTCTTATTGCCCTCTTG	0.463													94	111					0	0	1	0	0	C	72094726	T	C	72094726	3	2	369	1	0	0	0	0	1	0	0	0	16173	1493	52	3	984	3	TMEM19	12	72094726	Missense_Mutation	SNP	T	TCGA-P5-A735-01A-11D-A32B-08		72094726	61757169	19	32269											
MKRN3	7681	broad.mit.edu	37	15	23811405	23811405	+	Frame_Shift_Del	DEL	C	C	-			TCGA-P5-A735-01A-11D-A32B-08	TCGA-P5-A735-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28480ed8-d453-475f-a928-b02e55a6cb6e	a23c762e-4fd9-4110-9ee0-405694453b4f	g.chr15:23811405delC	ENST00000314520.3	+	1	952	c.476delC	c.(475-477)gccfs	p.A159fs	MKRN3_ENST00000564592.1_Intron|MKRN3_ENST00000568252.1_Intron	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	159						ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		GTGGCGGAAGCCCCCCCGGCT	0.642													8	14	---	---	---	---						-	23811405	C	-	23811405	7	5	369	1	0	1	0	1	0	0	0	0	9656	739	26	0	478	0	MKRN3	15	23811405	Frame_Shift_Del	DEL	C	TCGA-P5-A735-01A-11D-A32B-08		23811405	78719987	20	32270											
PLEKHO2	80301	broad.mit.edu	37	15	65157873	65157873	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A735-01A-11D-A32B-08	TCGA-P5-A735-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28480ed8-d453-475f-a928-b02e55a6cb6e	a23c762e-4fd9-4110-9ee0-405694453b4f	g.chr15:65157873C>T	ENST00000323544.4	+	6	1387	c.1259C>T	c.(1258-1260)tCg>tTg	p.S420L	AC069368.3_ENST00000437723.1_Intron	NM_001195059.1|NM_025201.4	NP_001181988.1|NP_079477.2	Q8TD55	PKHO2_HUMAN	pleckstrin homology domain containing, family O member 2	420										NS(1)|breast(1)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	25						AAGGTGGCCTCGGAACAGACG	0.632													3	14					0	0	1	0	0	T	65157873	C	T	65157873	3	4	369	1	0	0	0	0	1	0	0	0	12133	893	31	1	1281	1	PLEKHO2	15	65157873	Missense_Mutation	SNP	C	TCGA-P5-A735-01A-11D-A32B-08	41346468	65157873	37373519	21	32271											
USP6	9098	broad.mit.edu	37	17	5066179	5066179	+	Splice_Site	SNP	A	A	G			TCGA-P5-A735-01A-11D-A32B-08	TCGA-P5-A735-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28480ed8-d453-475f-a928-b02e55a6cb6e	a23c762e-4fd9-4110-9ee0-405694453b4f	g.chr17:5066179A>G	ENST00000574788.1	+	33	5146	c.2916A>G	c.(2914-2916)agA>agG	p.R972R	USP6_ENST00000332776.4_3'UTR|USP6_ENST00000304328.5_Splice_Site_p.R655R|USP6_ENST00000250066.6_Splice_Site_p.R972R			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6 (Tre-2 oncogene)	972					protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						CCCTTTTTAGATTTTGCAGAG	0.388			T	"COL1A1, CDH11, ZNF9, OMD"	aneurysmal bone cysts								5	159					0	0	1	0	0	G	5066179	A	G	5066179	5	3	369	1	0	0	0	0	0	0	1	0	17146	347	12	3	3010	3	USP6	17	5066179	Splice_Site	SNP	A	TCGA-P5-A735-01A-11D-A32B-08		5066179	76129031	22	32272											
TP53	7157	broad.mit.edu	37	17	7577096	7577096	+	Missense_Mutation	SNP	T	T	A			TCGA-P5-A735-01A-11D-A32B-08	TCGA-P5-A735-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28480ed8-d453-475f-a928-b02e55a6cb6e	a23c762e-4fd9-4110-9ee0-405694453b4f	g.chr17:7577096T>A	ENST00000420246.2	-	8	974	c.842A>T	c.(841-843)gAc>gTc	p.D281V	TP53_ENST00000445888.2_Missense_Mutation_p.D281V|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.D281V|TP53_ENST00000455263.2_Missense_Mutation_p.D281V|TP53_ENST00000269305.4_Missense_Mutation_p.D281V	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	281	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		D -> A (in sporadic cancers; somatic mutation).|D -> E (in sporadic cancers; somatic mutation).|D -> G (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).|D -> H (in sporadic cancers; somatic mutation).|D -> N (in LFS; germline mutation and in sporadic cancers; somatic mutation).|D -> R (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|D -> V (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|D -> Y (in sporadic cancers; somatic mutation).|DR -> EW (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.D281G(10)|p.0?(8)|p.D281V(5)|p.?(2)|p.D281fs*63(2)|p.R280_D281delRD(2)|p.D281A(2)|p.D281>AGPY(2)|p.A276_R283delACPGRDRR(1)|p.D281R(1)|p.C275fs*20(1)|p.L265_K305del41(1)|p.D281_R282delDR(1)|p.F270_D281del12(1)|p.G279fs*59(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(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)		TGTGCGCCGGTCTCTCCCAGG	0.552		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)			10	26					0	0	1	0	0	A	7577096	T	A	7577096	3	1	369	1	0	0	0	0	1	0	0	0	16442	1667	58	5	444	5	TP53	17	7577096	Missense_Mutation	SNP	T	TCGA-P5-A735-01A-11D-A32B-08	2510917	7577096	73618114	23	32273											
TP53	7157	broad.mit.edu	37	17	7579699	7579699	+	Splice_Site	SNP	C	C	T			TCGA-P5-A735-01A-11D-A32B-08	TCGA-P5-A735-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28480ed8-d453-475f-a928-b02e55a6cb6e	a23c762e-4fd9-4110-9ee0-405694453b4f	g.chr17:7579699C>T	ENST00000420246.2	-	3	229		c.e3+1		TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000269305.4_Splice_Site	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53						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.?(11)|p.0?(8)|p.S33fs*10(1)|p.P13fs*18(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)		CTTGTCCTTACCAGAACGTTG	0.597		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)			21	24					0	0	1	0	0	T	7579699	C	T	7579699	5	4	369	1	0	0	0	0	0	0	1	0	16442	521	18	2	1209	2	TP53	17	7579699	Splice_Site	SNP	C	TCGA-P5-A735-01A-11D-A32B-08	2603	7579699	73615511	24	32274											
MALT1	10892	broad.mit.edu	37	18	56363642	56363642	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A735-01A-11D-A32B-08	TCGA-P5-A735-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28480ed8-d453-475f-a928-b02e55a6cb6e	a23c762e-4fd9-4110-9ee0-405694453b4f	g.chr18:56363642G>A	ENST00000348428.3	+	3	679	c.421G>A	c.(421-423)Gga>Aga	p.G141R	RP11-126O1.4_ENST00000588835.1_RNA|MALT1_ENST00000345724.3_Missense_Mutation_p.G141R	NM_006785.2|NM_173844.1	NP_006776.1|NP_776216.1	Q9UDY8	MALT1_HUMAN	mucosa associated lymphoid tissue lymphoma translocation gene 1	141	Ig-like C2-type 1.				activation of NF-kappaB-inducing kinase activity|anti-apoptosis|nuclear export|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of protein ubiquitination|positive regulation of T cell cytokine production|protein oligomerization|proteolysis|T cell receptor signaling pathway	CBM complex|cytosol|nucleus|perinuclear region of cytoplasm	cysteine-type endopeptidase activity|protein self-association|signal transducer activity|ubiquitin-protein ligase activity			central_nervous_system(1)|large_intestine(7)|lung(1)|ovary(2)|skin(1)	12						AGTCTTGGCTGGACAGTTTGT	0.313			T	BIRC3	MALT								3	41					0	0	1	0	0	A	56363642	G	A	56363642	3	1	369	1	0	0	0	0	1	0	0	0	9252	1349	47	2	431	2	MALT1	18	56363642	Missense_Mutation	SNP	G	TCGA-P5-A735-01A-11D-A32B-08		56363642	21713606	25	32275											
ARHGEF18	23370	broad.mit.edu	37	19	7531821	7531821	+	Missense_Mutation	SNP	G	G	A	rs79986215	byFrequency	TCGA-P5-A735-01A-11D-A32B-08	TCGA-P5-A735-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28480ed8-d453-475f-a928-b02e55a6cb6e	a23c762e-4fd9-4110-9ee0-405694453b4f	g.chr19:7531821G>A	ENST00000593531.1	+	17	2231	c.2231G>A	c.(2230-2232)cGg>cAg	p.R744Q	ARHGEF18_ENST00000359920.6_Silent_p.T786T|ARHGEF18_ENST00000319670.9_Silent_p.T628T																							CGCCAGGCACGGAATCCGATC	0.627													37	52					0	0	1	0	0	A	7531821	G	A	7531821	3	1	369	1	0	0	0	0	1	0	0	0	898	1103	39	1	2412	1	ARHGEF18	19	7531821	Missense_Mutation	SNP	G	TCGA-P5-A735-01A-11D-A32B-08		7531821	51597162	26	32276											
FCGBP	8857	broad.mit.edu	37	19	40368644	40368644	+	Frame_Shift_Del	DEL	A	A	-			TCGA-P5-A735-01A-11D-A32B-08	TCGA-P5-A735-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28480ed8-d453-475f-a928-b02e55a6cb6e	a23c762e-4fd9-4110-9ee0-405694453b4f	g.chr19:40368644delA	ENST00000221347.6	-	28	12711	c.12704delT	c.(12703-12705)ctgfs	p.L4235fs		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	4235	VWFD 10.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GGAGGGAGCCAGTGTGCCATT	0.642													28	81	---	---	---	---						-	40368644	A	-	40368644	7	5	369	1	0	1	0	1	0	0	0	0	5811	188	7	0	3549	0	FCGBP	19	40368644	Frame_Shift_Del	DEL	A	TCGA-P5-A735-01A-11D-A32B-08	32836823	40368644	18760339	27	32277											
PLEKHA4	57664	broad.mit.edu	37	19	49348627	49348627	+	Splice_Site	SNP	C	C	G			TCGA-P5-A735-01A-11D-A32B-08	TCGA-P5-A735-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28480ed8-d453-475f-a928-b02e55a6cb6e	a23c762e-4fd9-4110-9ee0-405694453b4f	g.chr19:49348627C>G	ENST00000263265.6	-	16	2298	c.1743G>C	c.(1741-1743)aaG>aaC	p.K581N	PLEKHA4_ENST00000355496.5_Splice_Site_p.K556N	NM_020904.2	NP_065955.2	Q9H4M7	PKHA4_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4	581						cytoplasm|membrane	1-phosphatidylinositol binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	30		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364)		TACAGCTTACCTTGGTTCCTA	0.572													19	34					0	0	1	0	0	G	49348627	C	G	49348627	5	3	369	1	0	0	0	0	0	0	1	0	12106	695	24	4	616	4	PLEKHA4	19	49348627	Splice_Site	SNP	C	TCGA-P5-A735-01A-11D-A32B-08	8979983	49348627	9780356	28	32278											
LBP	3929	broad.mit.edu	37	20	36993276	36993276	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A735-01A-11D-A32B-08	TCGA-P5-A735-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28480ed8-d453-475f-a928-b02e55a6cb6e	a23c762e-4fd9-4110-9ee0-405694453b4f	g.chr20:36993276C>T	ENST00000217407.2	+	8	952	c.791C>T	c.(790-792)gCt>gTt	p.A264V		NM_004139.3	NP_004130.2	P18428	LBP_HUMAN	lipopolysaccharide binding protein	264					acute-phase response|cellular defense response|cellular response to lipoteichoic acid|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|detection of molecule of bacterial origin|innate immune response|lipid transport|lipopolysaccharide transport|lipopolysaccharide-mediated signaling pathway|macrophage activation involved in immune response|negative regulation of tumor necrosis factor production|opsonization|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of macrophage activation|positive regulation of respiratory burst involved in inflammatory response|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of tumor necrosis factor production|Toll signaling pathway	extracellular space	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|lipid binding|lipopolysaccharide binding|lipoteichoic acid binding|receptor binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(1)|urinary_tract(1)	28		Myeloproliferative disorder(115;0.00878)				ACCCTCCTTGCTGCAGTCATG	0.488													57	66					0	0	1	0	0	T	36993276	C	T	36993276	3	4	369	1	0	0	0	0	1	0	0	0	8690	797	28	2	821	2	LBP	20	36993276	Missense_Mutation	SNP	C	TCGA-P5-A735-01A-11D-A32B-08		36993276	26032244	29	32279											
SEZ6L	23544	broad.mit.edu	37	22	26688782	26688783	+	Frame_Shift_Ins	INS	-	-	ACCCGGACCCC			TCGA-P5-A735-01A-11D-A32B-08	TCGA-P5-A735-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28480ed8-d453-475f-a928-b02e55a6cb6e	a23c762e-4fd9-4110-9ee0-405694453b4f	g.chr22:26688782_26688783insACCCGGACCCC	ENST00000529632.2	+	2	701_702	c.505_506insACCCGGACCCC	c.(505-507)gacfs	p.-172fs	SEZ6L_ENST00000404234.3_Frame_Shift_Ins_p.-172fs|SEZ6L_ENST00000248933.6_Frame_Shift_Ins_p.-172fs|SEZ6L_ENST00000343706.4_Frame_Shift_Ins_p.-172fs|SEZ6L_ENST00000360929.3_Frame_Shift_Ins_p.-172fs|SEZ6L_ENST00000402979.1_5'UTR|SEZ6L_ENST00000403121.1_5'UTR	NM_001184774.1|NM_001184775.1|NM_001184777.1	NP_001171703.1|NP_001171704.1|NP_001171706.1	Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like							endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						CCCACCGGGGGACCCGGACCCC	0.668													11	40	---	---	---	---						ACCCGGACCCC	26688783	-	ACCCGGACCCC	26688782	7	5	369	1	0	1	1	0	0	0	0	0	14197	1174	41	0	511	0	SEZ6L	22	26688782	Frame_Shift_Ins	INS	-	TCGA-P5-A735-01A-11D-A32B-08		26688782	24615784	30	32280											
ATRX	546	broad.mit.edu	37	X	76940492	76940493	+	Frame_Shift_Ins	INS	-	-	G			TCGA-P5-A735-01A-11D-A32B-08	TCGA-P5-A735-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28480ed8-d453-475f-a928-b02e55a6cb6e	a23c762e-4fd9-4110-9ee0-405694453b4f	g.chrX:76940492_76940493insG	ENST00000373344.5	-	8	814_815	c.600_601insC	c.(598-603)tgctttfs	p.F201fs	ATRX_ENST00000395603.3_Frame_Shift_Ins_p.F163fs|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	201	ADD.				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)	TAATACTTAAAGCAATTCTATT	0.292			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						63	78	---	---	---	---						G	76940493	-	G	76940492	7	5	369	1	0	1	1	0	0	0	0	0	1206	72	3	0	6989	0	ATRX	23	76940492	Frame_Shift_Ins	INS	-	TCGA-P5-A735-01A-11D-A32B-08		76940492	78330068	31	32281											
ELF4	2000	broad.mit.edu	37	X	129205311	129205311	+	Splice_Site	SNP	C	C	T			TCGA-P5-A735-01A-11D-A32B-08	TCGA-P5-A735-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28480ed8-d453-475f-a928-b02e55a6cb6e	a23c762e-4fd9-4110-9ee0-405694453b4f	g.chrX:129205311C>T	ENST00000308167.5	-	6	995	c.616G>A	c.(616-618)Ggc>Agc	p.G206S	ELF4_ENST00000335997.7_Splice_Site_p.G206S	NM_001421.3	NP_001412.1	Q99607	ELF4_HUMAN	E74-like factor 4 (ets domain transcription factor)	206	RUNX1-binding.				natural killer cell proliferation|NK T cell proliferation|positive regulation of transcription from RNA polymerase II promoter	PML body	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	22						CTGTCCATACCTTTGCCATCC	0.612			T	ERG	AML								10	23					0	0	1	0	0	T	129205311	C	T	129205311	5	4	369	1	0	0	0	0	0	0	1	0	5084	695	24	2	1391	2	ELF4	23	129205311	Splice_Site	SNP	C	TCGA-P5-A735-01A-11D-A32B-08	52264819	129205311	26065249	32	32282											
L1CAM	3897	broad.mit.edu	37	X	153133835	153133835	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A735-01A-11D-A32B-08	TCGA-P5-A735-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28480ed8-d453-475f-a928-b02e55a6cb6e	a23c762e-4fd9-4110-9ee0-405694453b4f	g.chrX:153133835G>A	ENST00000370060.1	-	14	1814	c.1625C>T	c.(1624-1626)tCc>tTc	p.S542F	L1CAM_ENST00000361981.3_Missense_Mutation_p.S537F|L1CAM_ENST00000370057.3_Missense_Mutation_p.S542F|L1CAM_ENST00000361699.4_Missense_Mutation_p.S542F|L1CAM_ENST00000538883.1_Missense_Mutation_p.S544F|L1CAM_ENST00000543994.1_Missense_Mutation_p.S544F|L1CAM_ENST00000370055.1_Missense_Mutation_p.S537F	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	542	Ig-like C2-type 6.		S -> P (in HSAS).		axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane				NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GGGGTCAAAGGAGGCCTGGCA	0.602													72	108					0	0	1	0	0	A	153133835	G	A	153133835	3	1	369	1	0	0	0	0	1	0	0	0	8627	1174	41	2	2212	2	L1CAM	23	153133835	Missense_Mutation	SNP	G	TCGA-P5-A735-01A-11D-A32B-08	23928524	153133835	2136725	33	32283											
RYR2	6262	broad.mit.edu	37	1	237890418	237890418	+	Missense_Mutation	SNP	T	T	C			TCGA-P5-A736-01A-11D-A32B-08	TCGA-P5-A736-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e1079c-5dcf-4dac-a07b-11248c71f628	564f1744-0931-4af6-8a24-5bf77a17f456	g.chr1:237890418T>C	ENST00000366574.2	+	76	11074	c.10757T>C	c.(10756-10758)gTa>gCa	p.V3586A	RYR2_ENST00000542537.1_Missense_Mutation_p.V3570A|RYR2_ENST00000609119.1_3'UTR|RYR2_ENST00000360064.6_Missense_Mutation_p.V3584A	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3586					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AAAAAGGCTGTATGGCATAAA	0.393													4	37					0	0	1	0	0	C	237890418	T	C	237890418	3	2	370	1	0	0	0	0	1	0	0	0	13821	1638	57	3	11059	3	RYR2	1	237890418	Missense_Mutation	SNP	T	TCGA-P5-A736-01A-11D-A32B-08		237890418	11360203	1	32284											
GPR75	10936	broad.mit.edu	37	2	54081033	54081033	+	Silent	SNP	T	T	C			TCGA-P5-A736-01A-11D-A32B-08	TCGA-P5-A736-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e1079c-5dcf-4dac-a07b-11248c71f628	564f1744-0931-4af6-8a24-5bf77a17f456	g.chr2:54081033T>C	ENST00000394705.2	-	2	1131	c.861A>G	c.(859-861)ggA>ggG	p.G287G	ASB3_ENST00000498475.2_Intron|ASB3_ENST00000406625.2_Intron|GPR75-ASB3_ENST00000352846.3_Intron	NM_006794.3	NP_006785.1	O95800	GPR75_HUMAN	G protein-coupled receptor 75	287						integral to plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			TCTTGGTATATCCACGGGTCT	0.562													4	19					0	0	1	0	0	C	54081033	T	C	54081033	2	2	370	1	0	0	0	0	0	0	0	1	6748	1422	50	3		3	GPR75	2	54081033	Silent	SNP	T	TCGA-P5-A736-01A-11D-A32B-08		54081033	189118340	2	32285											
TTC21B	79809	broad.mit.edu	37	2	166747103	166747103	+	Missense_Mutation	SNP	C	C	T	rs144103331		TCGA-P5-A736-01A-11D-A32B-08	TCGA-P5-A736-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e1079c-5dcf-4dac-a07b-11248c71f628	564f1744-0931-4af6-8a24-5bf77a17f456	g.chr2:166747103C>T	ENST00000243344.7	-	24	3286	c.3149G>A	c.(3148-3150)cGg>cAg	p.R1050Q	TTC21B_ENST00000536175.1_5'UTR	NM_024753.4	NP_079029.3	Q7Z4L5	TT21B_HUMAN	tetratricopeptide repeat domain 21B	1050						cilium axoneme|cytoplasm|cytoskeleton	binding	p.R1050Q(1)		breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(9)|lung(28)|ovary(2)|pancreas(2)|skin(2)|urinary_tract(1)	58						ACGATCTTTCCGAGCTTTATT	0.343													4	54					0	0	1	0	0	T	166747103	C	T	166747103	3	4	370	1	0	0	0	0	1	0	0	0	16750	652	23	1	825	1	TTC21B	2	166747103	Missense_Mutation	SNP	C	TCGA-P5-A736-01A-11D-A32B-08	112666070	166747103	76452270	3	32286											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-P5-A736-01A-11D-A32B-08	TCGA-P5-A736-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e1079c-5dcf-4dac-a07b-11248c71f628	564f1744-0931-4af6-8a24-5bf77a17f456	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								20	29					0	0	1	0	0	T	209113112	C	T	209113112	3	4	370	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-P5-A736-01A-11D-A32B-08	42366009	209113112	34086261	4	32287											
WNT7A	7476	broad.mit.edu	37	3	13916574	13916574	+	Silent	SNP	G	G	A	rs145281257	by1000genomes	TCGA-P5-A736-01A-11D-A32B-08	TCGA-P5-A736-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e1079c-5dcf-4dac-a07b-11248c71f628	564f1744-0931-4af6-8a24-5bf77a17f456	g.chr3:13916574G>A	ENST00000285018.4	-	2	472	c.168C>T	c.(166-168)ccC>ccT	p.P56P	WNT7A_ENST00000497808.1_5'UTR	NM_004625.3	NP_004616.2	O00755	WNT7A_HUMAN	wingless-type MMTV integration site family, member 7A	56					activation of JUN kinase activity|anterior/posterior pattern formation|canonical Wnt receptor signaling pathway|cell proliferation in forebrain|cellular response to transforming growth factor beta stimulus|central nervous system vasculogenesis|cerebellar granule cell differentiation|dorsal/ventral pattern formation|embryonic axis specification|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic leg morphogenesis|lens fiber cell development|negative regulation of neurogenesis|palate development|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of JNK cascade|positive regulation of synaptogenesis|positive regulation of transcription from RNA polymerase II promoter|regulation of axon diameter|satellite cell activation|satellite cell maintenance involved in skeletal muscle regeneration|sex differentiation|uterus development|Wnt receptor signaling pathway involved in wound healing, spreading of epidermal cells|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	cytokine activity|frizzled binding|receptor agonist activity|signal transducer activity			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	24						TGATGGCGTCGGGCCGGCTCT	0.602													6	36					0	0	1	0	0	A	13916574	G	A	13916574	2	1	370	1	0	0	0	0	0	0	0	1	17454	1103	39	1		1	WNT7A	3	13916574	Silent	SNP	G	TCGA-P5-A736-01A-11D-A32B-08		13916574	184105856	5	32288											
TMEM14E	645843	broad.mit.edu	37	3	152058331	152058331	+	Silent	SNP	T	T	C			TCGA-P5-A736-01A-11D-A32B-08	TCGA-P5-A736-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e1079c-5dcf-4dac-a07b-11248c71f628	564f1744-0931-4af6-8a24-5bf77a17f456	g.chr3:152058331T>C	ENST00000408960.3	-	1	448	c.363A>G	c.(361-363)ggA>ggG	p.G121G	MBNL1_ENST00000324210.5_Intron|MBNL1_ENST00000493459.1_Intron|MBNL1_ENST00000498502.1_Intron|MBNL1_ENST00000324196.5_Intron|MBNL1_ENST00000485910.1_Intron|MBNL1_ENST00000492948.1_Intron|MBNL1_ENST00000357472.3_Intron|MBNL1_ENST00000545754.1_Intron|MBNL1_ENST00000282486.6_Intron|MBNL1_ENST00000355460.2_Intron|MBNL1_ENST00000463374.1_Intron|MBNL1_ENST00000485509.1_Intron|MBNL1_ENST00000282488.7_Intron	NM_001123228.1	NP_001116700.1	Q6UXP3	TM14E_HUMAN	transmembrane protein 14E	121						integral to membrane				lung(1)	1						TCTTCATGAGTCCAAGCTGAG	0.348													6	90					0	0	1	0	0	C	152058331	T	C	152058331	2	2	370	1	0	0	0	0	0	0	0	1	16126	1654	58	3		3	TMEM14E	3	152058331	Silent	SNP	T	TCGA-P5-A736-01A-11D-A32B-08	138141757	152058331	45964099	6	32289											
ADAMTS3	9508	broad.mit.edu	37	4	73169735	73169735	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A736-01A-11D-A32B-08	TCGA-P5-A736-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e1079c-5dcf-4dac-a07b-11248c71f628	564f1744-0931-4af6-8a24-5bf77a17f456	g.chr4:73169735G>A	ENST00000286657.4	-	17	2359	c.2323C>T	c.(2323-2325)Cgg>Tgg	p.R775W		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	775	Spacer.				collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding	p.R775W(1)		NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			ATGAAGGTCCGCGACTTGGCT	0.393													5	165					0	0	1	0	0	A	73169735	G	A	73169735	3	1	370	1	0	0	0	0	1	0	0	0	266	1086	38	1	1318	1	ADAMTS3	4	73169735	Missense_Mutation	SNP	G	TCGA-P5-A736-01A-11D-A32B-08		73169735	117984541	7	32290											
UGT3A2	167127	broad.mit.edu	37	5	36035966	36035966	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A736-01A-11D-A32B-08	TCGA-P5-A736-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e1079c-5dcf-4dac-a07b-11248c71f628	564f1744-0931-4af6-8a24-5bf77a17f456	g.chr5:36035966G>A	ENST00000282507.3	-	7	1507	c.1406C>T	c.(1405-1407)aCg>aTg	p.T469M	UGT3A2_ENST00000545528.1_Missense_Mutation_p.T167M|UGT3A2_ENST00000513300.1_Missense_Mutation_p.T435M	NM_174914.3	NP_777574.2	Q3SY77	UD3A2_HUMAN	UDP glycosyltransferase 3 family, polypeptide A2	469						integral to membrane	glucuronosyltransferase activity			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	43	all_lung(31;0.000179)		Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CTTGAGGTGCGTCGCGCCCCC	0.627													4	22					0	0	1	0	0	A	36035966	G	A	36035966	3	1	370	1	0	0	0	0	1	0	0	0	17024	1145	40	1	169	1	UGT3A2	5	36035966	Missense_Mutation	SNP	G	TCGA-P5-A736-01A-11D-A32B-08		36035966	144879294	8	32291											
F2RL1	2150	broad.mit.edu	37	5	76129526	76129526	+	Missense_Mutation	SNP	G	G	A	rs149001132		TCGA-P5-A736-01A-11D-A32B-08	TCGA-P5-A736-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e1079c-5dcf-4dac-a07b-11248c71f628	564f1744-0931-4af6-8a24-5bf77a17f456	g.chr5:76129526G>A	ENST00000296677.4	+	2	1300	c.1094G>A	c.(1093-1095)cGc>cAc	p.R365H		NM_005242.4	NP_005233	P55085	PAR2_HUMAN	coagulation factor II (thrombin) receptor-like 1	365					blood coagulation|elevation of cytosolic calcium ion concentration|positive regulation of leukocyte chemotaxis|positive regulation of positive chemotaxis|regulation of blood coagulation	Golgi apparatus|integral to plasma membrane	receptor binding|thrombin receptor activity	p.R365H(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	13		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;7.7e-51)|Epithelial(54;2.77e-45)|all cancers(79;3.47e-41)		CGAAGTGTCCGCACTGTAAAG	0.448													55	198					0	0	1	0	0	A	76129526	G	A	76129526	3	1	370	1	0	0	0	0	1	0	0	0	5372	1087	38	1	1100	1	F2RL1	5	76129526	Missense_Mutation	SNP	G	TCGA-P5-A736-01A-11D-A32B-08	40093560	76129526	104785734	9	32292											
PCDHB8	56128	broad.mit.edu	37	5	140559227	140559227	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A736-01A-11D-A32B-08	TCGA-P5-A736-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e1079c-5dcf-4dac-a07b-11248c71f628	564f1744-0931-4af6-8a24-5bf77a17f456	g.chr5:140559227G>A	ENST00000239444.2	+	1	1857	c.1612G>A	c.(1612-1614)Ggc>Agc	p.G538S		NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN		538	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTCAGACCGCGGCTCCCCGGC	0.667													4	209					0	0	1	0	0	A	140559227	G	A	140559227	3	1	370	1	0	0	0	0	1	0	0	0	11595	1116	39	1	1614	1	PCDHB8	5	140559227	Missense_Mutation	SNP	G	TCGA-P5-A736-01A-11D-A32B-08	64429701	140559227	40356033	10	32293											
GRIA1	2890	broad.mit.edu	37	5	153054155	153054155	+	Missense_Mutation	SNP	G	G	C			TCGA-P5-A736-01A-11D-A32B-08	TCGA-P5-A736-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e1079c-5dcf-4dac-a07b-11248c71f628	564f1744-0931-4af6-8a24-5bf77a17f456	g.chr5:153054155G>C	ENST00000285900.5	+	6	1138	c.795G>C	c.(793-795)aaG>aaC	p.K265N	GRIA1_ENST00000448073.4_Missense_Mutation_p.K275N|GRIA1_ENST00000340592.5_Missense_Mutation_p.K265N|GRIA1_ENST00000518142.1_Missense_Mutation_p.K185N|GRIA1_ENST00000521843.2_Missense_Mutation_p.K196N|GRIA1_ENST00000518783.1_Missense_Mutation_p.K275N	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	265					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	TTCCGGCCAAGATCATGCAGC	0.527													4	112					0	0	1	0	0	C	153054155	G	C	153054155	3	2	370	1	0	0	0	0	1	0	0	0	6808	933	33	4	817	4	GRIA1	5	153054155	Missense_Mutation	SNP	G	TCGA-P5-A736-01A-11D-A32B-08	12494928	153054155	27861105	11	32294											
MAP7	9053	broad.mit.edu	37	6	136686877	136686877	+	Silent	SNP	G	G	A			TCGA-P5-A736-01A-11D-A32B-08	TCGA-P5-A736-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e1079c-5dcf-4dac-a07b-11248c71f628	564f1744-0931-4af6-8a24-5bf77a17f456	g.chr6:136686877G>A	ENST00000354570.3	-	10	1679	c.1269C>T	c.(1267-1269)ggC>ggT	p.G423G	MAP7_ENST00000454590.1_Silent_p.G445G|MAP7_ENST00000432797.2_Silent_p.G277G|MAP7_ENST00000544465.1_Silent_p.G408G|MAP7_ENST00000438100.2_Silent_p.G408G	NM_001198616.1|NM_001198617.1|NM_001198619.1|NM_003980.4	NP_001185545.1|NP_001185546.1|NP_001185548.1|NP_003971.1	Q14244	MAP7_HUMAN	microtubule-associated protein 7	423	Pro-rich.				establishment or maintenance of cell polarity|microtubule cytoskeleton organization|protein localization in plasma membrane|response to osmotic stress	basolateral plasma membrane|microtubule|microtubule associated complex|nucleus|perinuclear region of cytoplasm	receptor binding|structural molecule activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(11)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643)		TCTTACCAGGGCCAACTTCTG	0.463													3	47					0	0	1	0	0	A	136686877	G	A	136686877	2	1	370	1	0	0	0	0	0	0	0	1	9316	1190	42	2		2	MAP7	6	136686877	Silent	SNP	G	TCGA-P5-A736-01A-11D-A32B-08		136686877	34428190	12	32295											
ZNF273	10793	broad.mit.edu	37	7	64388965	64388966	+	Frame_Shift_Del	DEL	AT	AT	-			TCGA-P5-A736-01A-11D-A32B-08	TCGA-P5-A736-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e1079c-5dcf-4dac-a07b-11248c71f628	564f1744-0931-4af6-8a24-5bf77a17f456	g.chr7:64388965_64388966delAT	ENST00000476120.1	+	4	1330_1331	c.1259_1260delAT	c.(1258-1260)catfs	p.H420fs	ZNF273_ENST00000527278.1_3'UTR|ZNF273_ENST00000319636.5_Frame_Shift_Del_p.H355fs	NM_021148.2	NP_066971.2	Q14593	ZN273_HUMAN	zinc finger protein 273	420					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Lung NSC(55;0.0295)|all_lung(88;0.0691)				CTTACTAAACATAAGAGAATTT	0.337													7	33	---	---	---	---						-	64388966	AT	-	64388965	7	5	370	1	0	1	0	1	0	0	0	0	17866	217	8	0	1273	0	ZNF273	7	64388965	Frame_Shift_Del	DEL	AT	TCGA-P5-A736-01A-11D-A32B-08		64388965	94749698	13	32296											
PCLO	27445	broad.mit.edu	37	7	82595691	82595691	+	Missense_Mutation	SNP	G	G	T			TCGA-P5-A736-01A-11D-A32B-08	TCGA-P5-A736-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e1079c-5dcf-4dac-a07b-11248c71f628	564f1744-0931-4af6-8a24-5bf77a17f456	g.chr7:82595691G>T	ENST00000333891.9	-	4	3750	c.3413C>A	c.(3412-3414)cCt>cAt	p.P1138H	PCLO_ENST00000423517.2_Missense_Mutation_p.P1138H	NM_033026.5	NP_149015.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein						cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TGTAGGAACAGGCATAGGAGA	0.428													6	53					0.00307968	0.00322633	1	1	0	T	82595691	G	T	82595691	3	4	370	1	0	0	0	0	1	0	0	0	11630	1000	35	4	12120	4	PCLO	7	82595691	Missense_Mutation	SNP	G	TCGA-P5-A736-01A-11D-A32B-08	18206726	82595691	76542972	14	32297											
STEAP4	79689	broad.mit.edu	37	7	87913524	87913525	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-P5-A736-01A-11D-A32B-08	TCGA-P5-A736-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e1079c-5dcf-4dac-a07b-11248c71f628	564f1744-0931-4af6-8a24-5bf77a17f456	g.chr7:87913524_87913525delTC	ENST00000380079.4	-	2	161_162	c.60_61delGA	c.(58-63)gagactfs	p.ET20fs	STEAP4_ENST00000414498.1_Frame_Shift_Del_p.ET20fs|STEAP4_ENST00000301959.5_Frame_Shift_Del_p.ET20fs|AC003991.3_ENST00000447758.1_RNA|AC003991.3_ENST00000600908.1_RNA|AC003991.3_ENST00000595121.1_RNA|AC003991.3_ENST00000434733.1_RNA	NM_001205315.1|NM_024636.3	NP_001192244.1|NP_078912.2	Q687X5	STEA4_HUMAN	STEAP family member 4	20					fat cell differentiation|ion transport|iron ion homeostasis	Golgi membrane|integral to membrane|plasma membrane	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(3)	15	Esophageal squamous(14;0.00802)					ATACATACAGTCTCTTGCTTTT	0.347													7	53	---	---	---	---						-	87913525	TC	-	87913524	7	5	370	1	0	1	0	1	0	0	0	0	15336	1667	58	0	1334	0	STEAP4	7	87913524	Frame_Shift_Del	DEL	TC	TCGA-P5-A736-01A-11D-A32B-08	5317833	87913524	71225139	15	32298											
ARPC1A	10552	broad.mit.edu	37	7	98935818	98935818	+	Missense_Mutation	SNP	C	C	A			TCGA-P5-A736-01A-11D-A32B-08	TCGA-P5-A736-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e1079c-5dcf-4dac-a07b-11248c71f628	564f1744-0931-4af6-8a24-5bf77a17f456	g.chr7:98935818C>A	ENST00000262942.5	+	3	203	c.79C>A	c.(79-81)Ccc>Acc	p.P27T	ARPC1A_ENST00000432884.2_5'UTR	NM_001190996.1|NM_006409.3	NP_001177925.1|NP_006400.2	Q92747	ARC1A_HUMAN	actin related protein 2/3 complex, subunit 1A, 41kDa	27					actin cytoskeleton organization|regulation of actin filament polymerization	actin cytoskeleton|cytoplasm	actin binding			endometrium(3)|large_intestine(5)|liver(2)|lung(7)|ovary(1)|prostate(1)	19	all_cancers(62;4.46e-09)|all_epithelial(64;3.44e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0258)		STAD - Stomach adenocarcinoma(171;0.215)			TGCCCTCAGTCCCAATAATCA	0.448													3	22					0.00909568	0.00909568	1	1	0	A	98935818	C	A	98935818	3	1	370	1	0	0	0	0	1	0	0	0	968	855	30	5	85	5	ARPC1A	7	98935818	Missense_Mutation	SNP	C	TCGA-P5-A736-01A-11D-A32B-08	11022294	98935818	60202845	16	32299											
IRF5	3663	broad.mit.edu	37	7	128587366	128587366	+	Silent	SNP	C	C	T	rs60344245		TCGA-P5-A736-01A-11D-A32B-08	TCGA-P5-A736-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e1079c-5dcf-4dac-a07b-11248c71f628	564f1744-0931-4af6-8a24-5bf77a17f456	g.chr7:128587366C>T	ENST00000402030.2	+	6	588	c.516C>T	c.(514-516)ccC>ccT	p.P172P	IRF5_ENST00000357234.5_Silent_p.P188P|IRF5_ENST00000473745.1_Silent_p.P172P|IRF5_ENST00000477535.1_Intron|IRF5_ENST00000249375.4_Silent_p.P172P	NM_001098629.1|NM_001098630.1	NP_001092099.1|NP_001092100.1	Q13568	IRF5_HUMAN	interferon regulatory factor 5	172				EDVKWPPTLQPPTLR -> DAVQSGPHMTPYSLLKEDVKW (in Ref. 1; AAA96056).	interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.?(1)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(1)|prostate(1)	15						TGCAGCCGCCCACTCTGCGGC	0.657													4	15					0	0	1	0	0	T	128587366	C	T	128587366	2	4	370	1	0	0	0	0	0	0	0	1	7877	581	21	2		2	IRF5	7	128587366	Silent	SNP	C	TCGA-P5-A736-01A-11D-A32B-08	29651548	128587366	30551297	17	32300											
KANK1	23189	broad.mit.edu	37	9	742321	742321	+	Silent	SNP	C	C	G			TCGA-P5-A736-01A-11D-A32B-08	TCGA-P5-A736-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e1079c-5dcf-4dac-a07b-11248c71f628	564f1744-0931-4af6-8a24-5bf77a17f456	g.chr9:742321C>G	ENST00000382303.1	+	14	4465	c.3813C>G	c.(3811-3813)ctC>ctG	p.L1271L	KANK1_ENST00000382297.2_Silent_p.L1271L|KANK1_ENST00000382293.3_Silent_p.L1113L|KANK1_ENST00000489369.1_3'UTR	NM_001256876.1	NP_001243805.1	Q14678	KANK1_HUMAN	KN motif and ankyrin repeat domains 1	1271					negative regulation of actin filament polymerization	cytoplasm				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1)	43		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)		CCACGGCCCTCATGTGTGCCA	0.602													3	47					0	0	1	0	0	G	742321	C	G	742321	2	3	370	1	0	0	0	0	0	0	0	1	8020	813	29	5		5	KANK1	9	742321	Silent	SNP	C	TCGA-P5-A736-01A-11D-A32B-08		742321	140471110	18	32301											
DAB2IP	153090	broad.mit.edu	37	9	124530868	124530868	+	Missense_Mutation	SNP	A	A	G			TCGA-P5-A736-01A-11D-A32B-08	TCGA-P5-A736-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e1079c-5dcf-4dac-a07b-11248c71f628	564f1744-0931-4af6-8a24-5bf77a17f456	g.chr9:124530868A>G	ENST00000408936.3	+	10	2037	c.1855A>G	c.(1855-1857)Agc>Ggc	p.S619G	DAB2IP_ENST00000309989.1_Missense_Mutation_p.S495G|DAB2IP_ENST00000259371.2_Missense_Mutation_p.S591G			Q5VWQ8	DAB2P_HUMAN	DAB2 interacting protein	619					activation of JUN kinase activity|apoptosis in response to endoplasmic reticulum stress|cellular response to epidermal growth factor stimulus|cellular response to tumor necrosis factor|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of Ras GTPase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|intrinsic to internal side of plasma membrane	14-3-3 protein binding|death receptor binding|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity|protein phosphatase 2A binding|Ras GTPase activator activity|signaling adaptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	27						CGAGCTCTCCAGCCTGCACTC	0.637													25	38					0	0	1	0	0	G	124530868	A	G	124530868	3	3	370	1	0	0	0	0	1	0	0	0	4243	188	7	3	1809	3	DAB2IP	9	124530868	Missense_Mutation	SNP	A	TCGA-P5-A736-01A-11D-A32B-08	123788547	124530868	16682563	19	32302											
ANKRD30A	91074	broad.mit.edu	37	10	37454053	37454053	+	Silent	SNP	G	G	A			TCGA-P5-A736-01A-11D-A32B-08	TCGA-P5-A736-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e1079c-5dcf-4dac-a07b-11248c71f628	564f1744-0931-4af6-8a24-5bf77a17f456	g.chr10:37454053G>A	ENST00000374660.1	+	18	1965	c.1866G>A	c.(1864-1866)aaG>aaA	p.K622K	ANKRD30A_ENST00000602533.1_Silent_p.K622K|ANKRD30A_ENST00000361713.1_Silent_p.K622K			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	678						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						CCAAACAAAAGGACTATGAAG	0.294													13	14					0	0	1	0	0	A	37454053	G	A	37454053	2	1	370	1	0	0	0	0	0	0	0	1	654	991	35	2		2	ANKRD30A	10	37454053	Silent	SNP	G	TCGA-P5-A736-01A-11D-A32B-08		37454053	98080694	20	32303											
MGAT4C	25834	broad.mit.edu	37	12	86373300	86373300	+	Nonsense_Mutation	SNP	G	G	A			TCGA-P5-A736-01A-11D-A32B-08	TCGA-P5-A736-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e1079c-5dcf-4dac-a07b-11248c71f628	564f1744-0931-4af6-8a24-5bf77a17f456	g.chr12:86373300G>A	ENST00000604798.1	-	8	2408	c.1204C>T	c.(1204-1206)Caa>Taa	p.Q402*	MGAT4C_ENST00000332156.1_Nonsense_Mutation_p.Q402*|MGAT4C_ENST00000552808.2_Nonsense_Mutation_p.Q402*|MGAT4C_ENST00000549405.2_Nonsense_Mutation_p.Q402*|MGAT4C_ENST00000548651.1_Nonsense_Mutation_p.Q402*|MGAT4C_ENST00000393205.2_Nonsense_Mutation_p.Q431*			Q9UBM8	MGT4C_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative)	402					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						ATATCATTTTGCCGATCTTCT	0.343													16	34					0	0	1	0	0	A	86373300	G	A	86373300	4	1	370	1	0	0	0	0	0	1	0	0	9597	1328	46	2	236	2	MGAT4C	12	86373300	Nonsense_Mutation	SNP	G	TCGA-P5-A736-01A-11D-A32B-08		86373300	47478595	21	32304											
EEA1	8411	broad.mit.edu	37	12	93181751	93181751	+	Missense_Mutation	SNP	T	T	C			TCGA-P5-A736-01A-11D-A32B-08	TCGA-P5-A736-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e1079c-5dcf-4dac-a07b-11248c71f628	564f1744-0931-4af6-8a24-5bf77a17f456	g.chr12:93181751T>C	ENST00000322349.8	-	22	3306	c.3042A>G	c.(3040-3042)atA>atG	p.I1014M		NM_003566.3	NP_003557	Q15075	EEA1_HUMAN	early endosome antigen 1	1014	Gln/Glu/Lys-rich.				early endosome to late endosome transport|synaptic vesicle to endosome fusion|vesicle fusion	cytosol|early endosome membrane|extrinsic to plasma membrane|membrane fraction	1-phosphatidylinositol binding|calmodulin binding|GTP-dependent protein binding|protein homodimerization activity|zinc ion binding			endometrium(5)|kidney(5)|large_intestine(11)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	36						GTAATACTGATATTTTCTCTT	0.378													3	33					0	0	1	0	0	C	93181751	T	C	93181751	3	2	370	1	0	0	0	0	1	0	0	0	4947	1396	49	3	1225	3	EEA1	12	93181751	Missense_Mutation	SNP	T	TCGA-P5-A736-01A-11D-A32B-08	6808451	93181751	40670144	22	32305											
NUDT4	11163	broad.mit.edu	37	12	93793075	93793076	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-P5-A736-01A-11D-A32B-08	TCGA-P5-A736-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e1079c-5dcf-4dac-a07b-11248c71f628	564f1744-0931-4af6-8a24-5bf77a17f456	g.chr12:93793075_93793076delAC	ENST00000337179.5	+	5	906_907	c.466_467delAC	c.(466-468)acafs	p.T156fs	NUDT4_ENST00000549992.1_Frame_Shift_Del_p.T103fs|NUDT4_ENST00000415493.2_Frame_Shift_Del_p.T155fs|NUDT4_ENST00000547014.1_Frame_Shift_Del_p.T104fs|NUDT4_ENST00000548662.1_Frame_Shift_Del_p.T103fs	NM_199040.2	NP_950241.1	Q9NZJ9	NUDT4_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 4	155					calcium-mediated signaling|cyclic nucleotide metabolic process|cyclic-nucleotide-mediated signaling|intracellular transport|regulation of RNA export from nucleus	cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding			endometrium(2)|kidney(1)|lung(2)	5						TGGAAATTCTACAGTCCCTTCC	0.46													16	151	---	---	---	---						-	93793076	AC	-	93793075	7	5	370	1	0	1	0	1	0	0	0	0	10789	391	14	0	484	0	NUDT4	12	93793075	Frame_Shift_Del	DEL	AC	TCGA-P5-A736-01A-11D-A32B-08	611324	93793075	40058820	23	32306											
TRIM13	10206	broad.mit.edu	37	13	50586723	50586723	+	Missense_Mutation	SNP	A	A	C			TCGA-P5-A736-01A-11D-A32B-08	TCGA-P5-A736-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e1079c-5dcf-4dac-a07b-11248c71f628	564f1744-0931-4af6-8a24-5bf77a17f456	g.chr13:50586723A>C	ENST00000378182.3	+	2	1385	c.647A>C	c.(646-648)gAc>gCc	p.D216A	TRIM13_ENST00000420995.2_Missense_Mutation_p.D216A|TRIM13_ENST00000457662.2_Missense_Mutation_p.D216A|TRIM13_ENST00000298772.5_Missense_Mutation_p.D219A|TRIM13_ENST00000478111.1_Intron|TRIM13_ENST00000356017.4_Missense_Mutation_p.D219A	NM_001007278.1|NM_005798.3|NM_052811.2|NM_213590.1	NP_001007279.1|NP_005789.2|NP_434698.1|NP_998755.1	O60858	TRI13_HUMAN	tripartite motif containing 13	216					anatomical structure morphogenesis|ER-associated protein catabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination	cytoplasm|endoplasmic reticulum membrane|integral to membrane	protein binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			large_intestine(5)|lung(2)|ovary(2)|upper_aerodigestive_tract(1)	10		Acute lymphoblastic leukemia(7;3.41e-06)|Lung NSC(96;3.08e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;1.53e-10)|COAD - Colon adenocarcinoma(199;0.205)		CAAGCATATGACCCAGAGATC	0.398													5	28					0	0	1	0	0	C	50586723	A	C	50586723	3	2	370	1	0	0	0	0	1	0	0	0	16549	275	10	5	662	5	TRIM13	13	50586723	Missense_Mutation	SNP	A	TCGA-P5-A736-01A-11D-A32B-08		50586723	64583155	24	32307											
ABCC4	10257	broad.mit.edu	37	13	95686882	95686882	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A736-01A-11D-A32B-08	TCGA-P5-A736-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e1079c-5dcf-4dac-a07b-11248c71f628	564f1744-0931-4af6-8a24-5bf77a17f456	g.chr13:95686882C>T	ENST00000376887.4	-	30	3961	c.3847G>A	c.(3847-3849)Gcc>Acc	p.A1283T	ABCC4_ENST00000412704.1_Missense_Mutation_p.A1236T	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 4	1283					platelet activation|platelet degranulation	integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Cefazolin(DB01327)	TCAGTGAGGGCAGCGGCTTCT	0.473													5	49					0	0	1	0	0	T	95686882	C	T	95686882	3	4	370	1	0	0	0	0	1	0	0	0	55	710	25	2	138	2	ABCC4	13	95686882	Missense_Mutation	SNP	C	TCGA-P5-A736-01A-11D-A32B-08	45100159	95686882	19482996	25	32308											
THSD4	79875	broad.mit.edu	37	15	72020908	72020908	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A736-01A-11D-A32B-08	TCGA-P5-A736-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e1079c-5dcf-4dac-a07b-11248c71f628	564f1744-0931-4af6-8a24-5bf77a17f456	g.chr15:72020908C>T	ENST00000355327.3	+	9	1512	c.1378C>T	c.(1378-1380)Cgc>Tgc	p.R460C	THSD4_ENST00000261862.6_Missense_Mutation_p.R460C|THSD4_ENST00000567838.1_3'UTR|THSD4_ENST00000357769.4_Missense_Mutation_p.R100C			Q6ZMP0	THSD4_HUMAN	thrombospondin, type I, domain containing 4	460						proteinaceous extracellular matrix	metalloendopeptidase activity	p.R460C(2)		breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						TCGTTCTGGACGCTCCATCAT	0.507													19	50					0	0	1	0	0	T	72020908	C	T	72020908	3	4	370	1	0	0	0	0	1	0	0	0	15938	536	19	1	1408	1	THSD4	15	72020908	Missense_Mutation	SNP	C	TCGA-P5-A736-01A-11D-A32B-08		72020908	30510484	26	32309											
CACNA1H	8912	broad.mit.edu	37	16	1262079	1262079	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A736-01A-11D-A32B-08	TCGA-P5-A736-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e1079c-5dcf-4dac-a07b-11248c71f628	564f1744-0931-4af6-8a24-5bf77a17f456	g.chr16:1262079C>T	ENST00000348261.5	+	25	4948	c.4700C>T	c.(4699-4701)gCg>gTg	p.A1567V	CACNA1H_ENST00000358590.4_Missense_Mutation_p.A1567V|CACNA1H_ENST00000565831.1_Missense_Mutation_p.A1567V	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	1567					aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	CACCAGGAGGCGGAGGAGGCG	0.657													21	59					0	0	1	0	0	T	1262079	C	T	1262079	3	4	370	1	0	0	0	0	1	0	0	0	2563	768	27	1	4794	1	CACNA1H	16	1262079	Missense_Mutation	SNP	C	TCGA-P5-A736-01A-11D-A32B-08		1262079	89092674	27	32310											
TP53	7157	broad.mit.edu	37	17	7578262	7578262	+	Missense_Mutation	SNP	C	C	G			TCGA-P5-A736-01A-11D-A32B-08	TCGA-P5-A736-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e1079c-5dcf-4dac-a07b-11248c71f628	564f1744-0931-4af6-8a24-5bf77a17f456	g.chr17:7578262C>G	ENST00000420246.2	-	6	719	c.587G>C	c.(586-588)cGa>cCa	p.R196P	TP53_ENST00000455263.2_Missense_Mutation_p.R196P|TP53_ENST00000413465.2_Missense_Mutation_p.R196P|TP53_ENST00000445888.2_Missense_Mutation_p.R196P|TP53_ENST00000269305.4_Missense_Mutation_p.R196P|TP53_ENST00000359597.4_Missense_Mutation_p.R196P|TP53_ENST00000574684.1_Intron	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	196	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (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.R196P(18)|p.0?(8)|p.?(5)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.R196Q(3)|p.R103P(2)|p.R64P(2)|p.I195fs*50(1)|p.P191fs*6(1)|p.I195_G199delIRVEG(1)|p.P98_E105>Q(1)|p.R196L(1)|p.P59_E66>Q(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)		TCCTTCCACTCGGATAAGATG	0.547		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)			17	11					0	0	1	0	0	G	7578262	C	G	7578262	3	3	370	1	0	0	0	0	1	0	0	0	16442	884	31	5	707	5	TP53	17	7578262	Missense_Mutation	SNP	C	TCGA-P5-A736-01A-11D-A32B-08		7578262	73616948	28	32311											
HELZ	9931	broad.mit.edu	37	17	65074523	65074523	+	Missense_Mutation	SNP	G	G	C			TCGA-P5-A736-01A-11D-A32B-08	TCGA-P5-A736-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e1079c-5dcf-4dac-a07b-11248c71f628	564f1744-0931-4af6-8a24-5bf77a17f456	g.chr17:65074523G>C	ENST00000358691.5	-	33	5840	c.5674C>G	c.(5674-5676)Ccc>Gcc	p.P1892A	HELZ_ENST00000580168.1_Missense_Mutation_p.P1893A	NM_014877.3	NP_055692			helicase with zinc finger											NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					GACATGGCGGGCTTGCCCCCC	0.627													4	115					0	0	1	0	0	C	65074523	G	C	65074523	3	2	370	1	0	0	0	0	1	0	0	0	7090	1203	42	5	158	5	HELZ	17	65074523	Missense_Mutation	SNP	G	TCGA-P5-A736-01A-11D-A32B-08	57496261	65074523	16120687	29	32312											
SERPINB12	89777	broad.mit.edu	37	18	61228381	61228381	+	Missense_Mutation	SNP	A	A	C			TCGA-P5-A736-01A-11D-A32B-08	TCGA-P5-A736-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e1079c-5dcf-4dac-a07b-11248c71f628	564f1744-0931-4af6-8a24-5bf77a17f456	g.chr18:61228381A>C	ENST00000382768.1	+	4	508	c.508A>C	c.(508-510)Aac>Cac	p.N170H	SERPINB12_ENST00000269491.1_Missense_Mutation_p.N150H			Q96P63	SPB12_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 12	150					negative regulation of protein catabolic process|regulation of proteolysis	cytoplasm	enzyme binding|serine-type endopeptidase inhibitor activity			kidney(1)|large_intestine(5)|lung(19)|skin(1)	26						TTTCCAAAAAAACCCTGAAAA	0.368													8	86					0	0	1	0	0	C	61228381	A	C	61228381	3	2	370	1	0	0	0	0	1	0	0	0	14153	14	1	5	462	5	SERPINB12	18	61228381	Missense_Mutation	SNP	A	TCGA-P5-A736-01A-11D-A32B-08		61228381	16848867	30	32313											
RTTN	25914	broad.mit.edu	37	18	67872445	67872446	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-P5-A736-01A-11D-A32B-08	TCGA-P5-A736-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e1079c-5dcf-4dac-a07b-11248c71f628	564f1744-0931-4af6-8a24-5bf77a17f456	g.chr18:67872445_67872446delAA	ENST00000255674.6	-	2	423_424	c.137_138delTT	c.(136-138)tttfs	p.F46fs	RTTN_ENST00000454359.1_Frame_Shift_Del_p.F46fs|RTTN_ENST00000437017.1_Frame_Shift_Del_p.F46fs	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	46							binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				GCAAATGAAGAAAAAGTTGCCT	0.455													11	77	---	---	---	---						-	67872446	AA	-	67872445	7	5	370	1	0	1	0	1	0	0	0	0	13789	243	9	0	6734	0	RTTN	18	67872445	Frame_Shift_Del	DEL	AA	TCGA-P5-A736-01A-11D-A32B-08	6644064	67872445	10204803	31	32314											
CD209	30835	broad.mit.edu	37	19	7808071	7808071	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A736-01A-11D-A32B-08	TCGA-P5-A736-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e1079c-5dcf-4dac-a07b-11248c71f628	564f1744-0931-4af6-8a24-5bf77a17f456	g.chr19:7808071C>T	ENST00000315599.7	-	7	1091	c.1069G>A	c.(1069-1071)Gcg>Acg	p.A357T	CD209_ENST00000204801.8_Missense_Mutation_p.A313T|CD209_ENST00000602261.1_Missense_Mutation_p.A265T|CD209_ENST00000394161.5_Missense_Mutation_p.A121T|CD209_ENST00000394173.4_Missense_Mutation_p.A196T|CD209_ENST00000315591.8_Missense_Mutation_p.A333T|CD209_ENST00000601256.1_Missense_Mutation_p.R295H|CD209_ENST00000593821.1_Missense_Mutation_p.A221T|CD209_ENST00000601951.1_Missense_Mutation_p.A333T|CD209_ENST00000301357.8_Missense_Mutation_p.A221T|CD209_ENST00000354397.6_Missense_Mutation_p.A351T|CD209_ENST00000593660.1_Missense_Mutation_p.A287T	NM_001144895.1|NM_001144897.1|NM_021155.3	NP_001138367.1|NP_001138369.1|NP_066978.1	Q9NNX6	CD209_HUMAN	CD209 molecule	357	C-type lectin.				cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to membrane|plasma membrane	mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding			endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						CTAAATTCCGCGCAGTCTTCC	0.527													5	208					0	0	1	0	0	T	7808071	C	T	7808071	3	4	370	1	0	0	0	0	1	0	0	0	3006	768	27	1	149	1	CD209	19	7808071	Missense_Mutation	SNP	C	TCGA-P5-A736-01A-11D-A32B-08		7808071	51320912	32	32315											
ZNF442	79973	broad.mit.edu	37	19	12460800	12460800	+	Silent	SNP	G	G	A			TCGA-P5-A736-01A-11D-A32B-08	TCGA-P5-A736-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e1079c-5dcf-4dac-a07b-11248c71f628	564f1744-0931-4af6-8a24-5bf77a17f456	g.chr19:12460800G>A	ENST00000242804.4	-	6	2181	c.1599C>T	c.(1597-1599)gtC>gtT	p.V533V	ZNF442_ENST00000438182.1_Silent_p.V464V	NM_030824.2	NP_110451.1	Q9H7R0	ZN442_HUMAN	zinc finger protein 442	533					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	31						TCCTTTCATGGACTTTTAAGT	0.388													23	38					0	0	1	0	0	A	12460800	G	A	12460800	2	1	370	1	0	0	0	0	0	0	0	1	17972	1161	41	2		2	ZNF442	19	12460800	Silent	SNP	G	TCGA-P5-A736-01A-11D-A32B-08	4652729	12460800	46668183	33	32316											
FAM129C	199786	broad.mit.edu	37	19	17641666	17641666	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A736-01A-11D-A32B-08	TCGA-P5-A736-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e1079c-5dcf-4dac-a07b-11248c71f628	564f1744-0931-4af6-8a24-5bf77a17f456	g.chr19:17641666C>T	ENST00000335393.4	+	3	389	c.251C>T	c.(250-252)cCg>cTg	p.P84L	FAM129C_ENST00000449408.2_Intron|FAM129C_ENST00000595684.1_Missense_Mutation_p.P84L|FAM129C_ENST00000601861.1_Missense_Mutation_p.P53L|FAM129C_ENST00000352727.3_Missense_Mutation_p.P84L|FAM129C_ENST00000599164.1_Missense_Mutation_p.P53L|FAM129C_ENST00000600871.1_Intron|FAM129C_ENST00000332386.5_Missense_Mutation_p.P84L|FAM129C_ENST00000300971.2_Missense_Mutation_p.P84L|FAM129C_ENST00000597887.1_Intron|FAM129C_ENST00000599124.1_Missense_Mutation_p.P53L	NM_173544.4	NP_775815	Q86XR2	NIBL2_HUMAN	family with sequence similarity 129, member C	84										autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(2)|lung(14)|ovary(1)|skin(3)|stomach(1)	33						CCTCAGGAGCCGACCGGAAGC	0.637													6	38					0	0	1	0	0	T	17641666	C	T	17641666	3	4	370	1	0	0	0	0	1	0	0	0	5469	652	23	1	261	1	FAM129C	19	17641666	Missense_Mutation	SNP	C	TCGA-P5-A736-01A-11D-A32B-08	5180866	17641666	41487317	34	32317											
SNRNP70	6625	broad.mit.edu	37	19	49611507	49611507	+	Frame_Shift_Del	DEL	G	G	-			TCGA-P5-A736-01A-11D-A32B-08	TCGA-P5-A736-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e1079c-5dcf-4dac-a07b-11248c71f628	564f1744-0931-4af6-8a24-5bf77a17f456	g.chr19:49611507delG	ENST00000221448.5	+	10	1290	c.1094delG	c.(1093-1095)cgtfs	p.R365fs	SNRNP70_ENST00000598441.1_Frame_Shift_Del_p.R374fs	NM_003089.4	NP_003080.2	P08621	RU17_HUMAN	small nuclear ribonucleoprotein 70kDa (U1)	374	Arg/Asp/Glu-rich (mixed charge).				nuclear mRNA splicing, via spliceosome|regulation of RNA splicing	nucleoplasm|spliceosomal complex	nucleotide binding|protein binding|RNA binding			cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|skin(2)	12						gaccgtgaccgtgaccgcgag	0.741													2	4	---	---	---	---						-	49611507	G	-	49611507	7	5	370	1	0	1	0	1	0	0	0	0	14912	1145	40	0	1155	0	SNRNP70	19	49611507	Frame_Shift_Del	DEL	G	TCGA-P5-A736-01A-11D-A32B-08	31969841	49611507	9517476	35	32318											
NLRP8	126205	broad.mit.edu	37	19	56465952	56465954	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-P5-A736-01A-11D-A32B-08	TCGA-P5-A736-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e1079c-5dcf-4dac-a07b-11248c71f628	564f1744-0931-4af6-8a24-5bf77a17f456	g.chr19:56465952_56465954delCTT	ENST00000291971.3	+	3	599_601	c.528_530delCTT	c.(526-531)gacttc>gac	p.F178del	NLRP8_ENST00000590542.1_In_Frame_Del_p.F178del	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	178						cytoplasm	ATP binding	p.F178delF(1)		breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		ACCAGAGGGACTTCTTCTACCAA	0.483													12	89	---	---	---	---						-	56465954	CTT	-	56465952	7	5	370	1	0	1	0	1	0	0	0	0	10530	564	20	0	538	0	NLRP8	19	56465952	In_Frame_Del	DEL	CTT	TCGA-P5-A736-01A-11D-A32B-08	6854445	56465952	2663031	36	32319											
ITSN1	6453	broad.mit.edu	37	21	35153849	35153849	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A736-01A-11D-A32B-08	TCGA-P5-A736-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e1079c-5dcf-4dac-a07b-11248c71f628	564f1744-0931-4af6-8a24-5bf77a17f456	g.chr21:35153849C>T	ENST00000381318.3	+	15	1969	c.1681C>T	c.(1681-1683)Cac>Tac	p.H561Y	ITSN1_ENST00000381291.4_Missense_Mutation_p.H561Y|ITSN1_ENST00000399352.1_Missense_Mutation_p.H561Y|ITSN1_ENST00000399355.2_Missense_Mutation_p.H561Y|ITSN1_ENST00000399353.1_Missense_Mutation_p.H524Y|ITSN1_ENST00000399338.4_Missense_Mutation_p.H561Y|ITSN1_ENST00000399367.3_Missense_Mutation_p.H561Y|ITSN1_ENST00000379960.5_Missense_Mutation_p.H561Y|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000399349.1_Missense_Mutation_p.H561Y|ITSN1_ENST00000437442.2_Missense_Mutation_p.H561Y|ITSN1_ENST00000381285.4_Missense_Mutation_p.H561Y|ITSN1_ENST00000399326.3_Missense_Mutation_p.H561Y	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	561	KLERQ.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						GAACAGTTTGCACAGTAGGTG	0.408													4	71					0	0	1	0	0	T	35153849	C	T	35153849	3	4	370	1	0	0	0	0	1	0	0	0	7970	710	25	2	1735	2	ITSN1	21	35153849	Missense_Mutation	SNP	C	TCGA-P5-A736-01A-11D-A32B-08		35153849	12976046	37	32320											
MTMR8	55613	broad.mit.edu	37	X	63579299	63579299	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A736-01A-11D-A32B-08	TCGA-P5-A736-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e1079c-5dcf-4dac-a07b-11248c71f628	564f1744-0931-4af6-8a24-5bf77a17f456	g.chrX:63579299G>A	ENST00000374852.3	-	2	200	c.133C>T	c.(133-135)Cgg>Tgg	p.R45W	MTMR8_ENST00000453546.1_Missense_Mutation_p.R45W	NM_017677.3	NP_060147.2	Q96EF0	MTMR8_HUMAN	myotubularin related protein 8	45						nuclear envelope	protein tyrosine phosphatase activity	p.0?(1)		breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|skin(3)	37						GTTTCTTTCCGGGCTGCACCT	0.408													9	37					0	0	1	0	0	A	63579299	G	A	63579299	3	1	370	1	0	0	0	0	1	0	0	0	9997	1115	39	1	2033	1	MTMR8	23	63579299	Missense_Mutation	SNP	G	TCGA-P5-A736-01A-11D-A32B-08		63579299	91691261	38	32321											
ATRX	546	broad.mit.edu	37	X	76778806	76778807	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-P5-A736-01A-11D-A32B-08	TCGA-P5-A736-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e1079c-5dcf-4dac-a07b-11248c71f628	564f1744-0931-4af6-8a24-5bf77a17f456	g.chrX:76778806_76778807delAA	ENST00000373344.5	-	31	6986_6987	c.6772_6773delTT	c.(6772-6774)ttgfs	p.L2258fs	ATRX_ENST00000395603.3_Frame_Shift_Del_p.L2220fs|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	2258					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			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)	TTTGTGGTCCAAAAGAGAATCA	0.386			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						11	152	---	---	---	---						-	76778807	AA	-	76778806	7	5	370	1	0	1	0	1	0	0	0	0	1206	131	5	0	725	0	ATRX	23	76778806	Frame_Shift_Del	DEL	AA	TCGA-P5-A736-01A-11D-A32B-08	13199507	76778806	78491754	39	32322											
ATRX	546	broad.mit.edu	37	X	76829760	76829760	+	Nonsense_Mutation	SNP	G	G	C			TCGA-P5-A736-01A-11D-A32B-08	TCGA-P5-A736-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e1079c-5dcf-4dac-a07b-11248c71f628	564f1744-0931-4af6-8a24-5bf77a17f456	g.chrX:76829760G>C	ENST00000373344.5	-	28	6495	c.6281C>G	c.(6280-6282)tCa>tGa	p.S2094*	ATRX_ENST00000395603.3_Nonsense_Mutation_p.S2056*|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	2094	Helicase C-terminal.				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)	CTTCTTCCTTGACTGTGCAGT	0.313			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						16	102					0	0	1	0	0	C	76829760	G	C	76829760	4	2	370	1	0	0	0	0	0	1	0	0	1206	1294	45	5	1229	5	ATRX	23	76829760	Nonsense_Mutation	SNP	G	TCGA-P5-A736-01A-11D-A32B-08	50954	76829760	78440800	40	32323											
AHDC1	27245	broad.mit.edu	37	1	27875316	27875316	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A737-01A-11D-A32B-08	TCGA-P5-A737-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936493de-1bf3-4ba3-8fd1-3365e35605c8	732b972d-1257-41a8-905a-7407e4a36995	g.chr1:27875316C>T	ENST00000374011.2	-	6	4279	c.3311G>A	c.(3310-3312)gGg>gAg	p.G1104E	AHDC1_ENST00000247087.5_Missense_Mutation_p.G1104E	NM_001029882.2	NP_001025053.1	Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	1104							DNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		CTGAGAAGCCCCCGCAAACTG	0.637													5	39					0	0	1	0	0	T	27875316	C	T	27875316	3	4	371	1	0	0	0	0	1	0	0	0	409	623	22	2	1504	2	AHDC1	1	27875316	Missense_Mutation	SNP	C	TCGA-P5-A737-01A-11D-A32B-08		27875316	221375305	1	32324											
KPRP	448834	broad.mit.edu	37	1	152732999	152732999	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A737-01A-11D-A32B-08	TCGA-P5-A737-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936493de-1bf3-4ba3-8fd1-3365e35605c8	732b972d-1257-41a8-905a-7407e4a36995	g.chr1:152732999G>A	ENST00000368773.1	+	2	993	c.935G>A	c.(934-936)cGc>cAc	p.R312H	KPRP_ENST00000606109.1_Missense_Mutation_p.R312H	NM_001025231.1	NP_001020402.1	Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	312	Pro-rich.					cytoplasm				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGTCCTCGCCGCCCCATTTCA	0.592													3	52					0	0	1	0	0	A	152732999	G	A	152732999	3	1	371	1	0	0	0	0	1	0	0	0	8479	1087	38	1	937	1	KPRP	1	152732999	Missense_Mutation	SNP	G	TCGA-P5-A737-01A-11D-A32B-08	124857683	152732999	96517622	2	32325											
XCL2	6846	broad.mit.edu	37	1	168510202	168510202	+	Silent	SNP	G	G	A	rs149372418	byFrequency	TCGA-P5-A737-01A-11D-A32B-08	TCGA-P5-A737-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936493de-1bf3-4ba3-8fd1-3365e35605c8	732b972d-1257-41a8-905a-7407e4a36995	g.chr1:168510202G>A	ENST00000367819.2	-	3	365	c.333C>T	c.(331-333)acC>acT	p.T111T		NM_003175.3	NP_003166.1	Q9UBD3	XCL2_HUMAN	chemokine (C motif) ligand 2	111					blood circulation|chemotaxis|immune response|signal transduction	extracellular space	chemokine activity	p.T111T(1)		large_intestine(1)|lung(6)|ovary(1)	8	all_hematologic(923;0.215)					AGCCAGTCAGGGTCACAGCTG	0.498													5	39					0	0	1	0	0	A	168510202	G	A	168510202	2	1	371	1	0	0	0	0	0	0	0	1	17484	1219	43	2		2	XCL2	1	168510202	Silent	SNP	G	TCGA-P5-A737-01A-11D-A32B-08	15777203	168510202	80740419	3	32326											
OR14I1	401994	broad.mit.edu	37	1	248844917	248844917	+	Missense_Mutation	SNP	T	T	C			TCGA-P5-A737-01A-11D-A32B-08	TCGA-P5-A737-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936493de-1bf3-4ba3-8fd1-3365e35605c8	732b972d-1257-41a8-905a-7407e4a36995	g.chr1:248844917T>C	ENST00000342623.3	-	1	712	c.689A>G	c.(688-690)cAg>cGg	p.Q230R		NM_001004734.1	NP_001004734.1	A6ND48	O14I1_HUMAN	olfactory receptor, family 14, subfamily I, member 1	230					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(4)|large_intestine(2)|lung(24)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	35						TGCTCGACTCTGTCCTGAAGG	0.493													5	63					0	0	1	0	0	C	248844917	T	C	248844917	3	2	371	1	0	0	0	0	1	0	0	0	10995	1580	55	3	250	3	OR14I1	1	248844917	Missense_Mutation	SNP	T	TCGA-P5-A737-01A-11D-A32B-08	80334715	248844917	405704	4	32327											
DHRS9	10170	broad.mit.edu	37	2	169939889	169939889	+	Missense_Mutation	SNP	A	A	C			TCGA-P5-A737-01A-11D-A32B-08	TCGA-P5-A737-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936493de-1bf3-4ba3-8fd1-3365e35605c8	732b972d-1257-41a8-905a-7407e4a36995	g.chr2:169939889A>C	ENST00000327239.4	+	6	1868	c.364A>C	c.(364-366)Act>Cct	p.T122P	DHRS9_ENST00000412271.1_Missense_Mutation_p.T122P|DHRS9_ENST00000436483.2_Missense_Mutation_p.T122P|DHRS9_ENST00000421653.1_5'UTR|DHRS9_ENST00000428522.1_Missense_Mutation_p.T122P|DHRS9_ENST00000357546.2_Missense_Mutation_p.T122P|DHRS9_ENST00000602501.1_Missense_Mutation_p.T122P|DHRS9_ENST00000432060.2_Missense_Mutation_p.T182P	NM_005771.4	NP_005762.2	Q9BPW9	DHRS9_HUMAN	dehydrogenase/reductase (SDR family) member 9	122					9-cis-retinoic acid biosynthetic process|androgen metabolic process|epithelial cell differentiation|progesterone metabolic process|retinol metabolic process	integral to endoplasmic reticulum membrane|microsome	alcohol dehydrogenase (NAD) activity|binding|racemase and epimerase activity|retinol dehydrogenase activity|testosterone dehydrogenase (NAD+) activity			breast(1)|endometrium(3)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13						GCTGGCTCCCACTGACTGGCT	0.473													42	31					0	0	1	0	0	C	169939889	A	C	169939889	3	2	371	1	0	0	0	0	1	0	0	0	4526	159	6	5	370	5	DHRS9	2	169939889	Missense_Mutation	SNP	A	TCGA-P5-A737-01A-11D-A32B-08		169939889	73259484	5	32328											
FSIP2	401024	broad.mit.edu	37	2	186673362	186673362	+	Missense_Mutation	SNP	A	A	G			TCGA-P5-A737-01A-11D-A32B-08	TCGA-P5-A737-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936493de-1bf3-4ba3-8fd1-3365e35605c8	732b972d-1257-41a8-905a-7407e4a36995	g.chr2:186673362A>G	ENST00000343098.5	+	17	19596	c.19596A>G	c.(19594-19596)atA>atG	p.I6532M	FSIP2_ENST00000424728.1_Missense_Mutation_p.I6443M	NM_173651.2	NP_775922.2			fibrous sheath interacting protein 2											NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						ATTATGATATAAAAGATACAA	0.289													23	18					0	0	1	0	0	G	186673362	A	G	186673362	3	3	371	1	0	0	0	0	1	0	0	0	6110	352	13	3	19662	3	FSIP2	2	186673362	Missense_Mutation	SNP	A	TCGA-P5-A737-01A-11D-A32B-08	16733473	186673362	56526011	6	32329											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-P5-A737-01A-11D-A32B-08	TCGA-P5-A737-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936493de-1bf3-4ba3-8fd1-3365e35605c8	732b972d-1257-41a8-905a-7407e4a36995	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	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								23	16					0	0	1	0	0	T	209113112	C	T	209113112	3	4	371	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-P5-A737-01A-11D-A32B-08	22439750	209113112	34086261	7	32330											
SS18L2	51188	broad.mit.edu	37	3	42632448	42632448	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A737-01A-11D-A32B-08	TCGA-P5-A737-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936493de-1bf3-4ba3-8fd1-3365e35605c8	732b972d-1257-41a8-905a-7407e4a36995	g.chr3:42632448C>T	ENST00000447630.1	+	2	267	c.59C>T	c.(58-60)aCt>aTt	p.T20I	SEC22C_ENST00000417572.1_Intron|SS18L2_ENST00000011691.4_Missense_Mutation_p.T20I			Q9UHA2	S18L2_HUMAN	synovial sarcoma translocation gene on chromosome 18-like 2	20										prostate(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.214)		AATCAAGAGACTATCCAGCGG	0.667													24	39					0	0	1	0	0	T	42632448	C	T	42632448	3	4	371	1	0	0	0	0	1	0	0	0	15233	565	20	2	61	2	SS18L2	3	42632448	Missense_Mutation	SNP	C	TCGA-P5-A737-01A-11D-A32B-08		42632448	155389982	8	32331											
ZNF721	170960	broad.mit.edu	37	4	436239	436239	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A737-01A-11D-A32B-08	TCGA-P5-A737-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936493de-1bf3-4ba3-8fd1-3365e35605c8	732b972d-1257-41a8-905a-7407e4a36995	g.chr4:436239C>T	ENST00000338977.5	-	2	2029	c.1981G>A	c.(1981-1983)Gag>Aag	p.E661K	ZNF721_ENST00000506646.1_Intron|ABCA11P_ENST00000451020.2_RNA|ZNF721_ENST00000507078.1_Intron|ZNF721_ENST00000511833.2_Missense_Mutation_p.E673K					zinc finger protein 721											endometrium(2)|kidney(2)|large_intestine(15)|lung(6)|ovary(1)|skin(1)|stomach(5)|urinary_tract(1)	33						TTGCCACACTCTTCACATTTG	0.418													4	100					0	0	1	0	0	T	436239	C	T	436239	3	4	371	1	0	0	0	0	1	0	0	0	18176	922	32	2	758	2	ZNF721	4	436239	Missense_Mutation	SNP	C	TCGA-P5-A737-01A-11D-A32B-08		436239	190718037	9	32332											
SLC34A2	10568	broad.mit.edu	37	4	25678090	25678090	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A737-01A-11D-A32B-08	TCGA-P5-A737-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936493de-1bf3-4ba3-8fd1-3365e35605c8	732b972d-1257-41a8-905a-7407e4a36995	g.chr4:25678090C>T	ENST00000382051.3	+	13	1842	c.1792C>T	c.(1792-1794)Cgc>Tgc	p.R598C	SLC34A2_ENST00000504570.1_Missense_Mutation_p.R597C|SLC34A2_ENST00000503434.1_Missense_Mutation_p.R597C	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415	O95436	NPT2B_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 2	598					cellular phosphate ion homeostasis	apical plasma membrane|brush border membrane|integral to plasma membrane	phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity	p.R598C(1)	SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				GCTGTGGATGCGCTCGCTGAA	0.632			T	ROS1	NSCLC								4	69					0	0	1	0	0	T	25678090	C	T	25678090	3	4	371	1	0	0	0	0	1	0	0	0	14623	768	27	1	1838	1	SLC34A2	4	25678090	Missense_Mutation	SNP	C	TCGA-P5-A737-01A-11D-A32B-08	25241851	25678090	165476186	10	32333											
KIAA1211	57482	broad.mit.edu	37	4	57179385	57179385	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A737-01A-11D-A32B-08	TCGA-P5-A737-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936493de-1bf3-4ba3-8fd1-3365e35605c8	732b972d-1257-41a8-905a-7407e4a36995	g.chr4:57179385G>A	ENST00000504228.1	+	5	482	c.377G>A	c.(376-378)cGg>cAg	p.R126Q	KIAA1211_ENST00000541073.1_Missense_Mutation_p.R119Q|KIAA1211_ENST00000264229.6_Missense_Mutation_p.R126Q			Q6ZU35	K1211_HUMAN	KIAA1211	126										endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					AAACCGTCTCGGCCAAAAAGG	0.537													10	100					0	0	1	0	0	A	57179385	G	A	57179385	3	1	371	1	0	0	0	0	1	0	0	0	8257	1116	39	1	391	1	KIAA1211	4	57179385	Missense_Mutation	SNP	G	TCGA-P5-A737-01A-11D-A32B-08	31501295	57179385	133974891	11	32334											
MAST4	375449	broad.mit.edu	37	5	66055567	66055567	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A737-01A-11D-A32B-08	TCGA-P5-A737-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936493de-1bf3-4ba3-8fd1-3365e35605c8	732b972d-1257-41a8-905a-7407e4a36995	g.chr5:66055567C>T	ENST00000404260.3	+	2	702	c.394C>T	c.(394-396)Ccg>Tcg	p.P132S	MAST4_ENST00000406039.1_Missense_Mutation_p.P132S|MAST4_ENST00000478569.1_3'UTR|MAST4_ENST00000406374.1_Missense_Mutation_p.P132S|MAST4_ENST00000403625.2_Missense_Mutation_p.P132S			O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	132						cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		TCCACCCATGCCGTTTCGGAA	0.488													3	36					0	0	1	0	0	T	66055567	C	T	66055567	3	4	371	1	0	0	0	0	1	0	0	0	9377	739	26	2	400	2	MAST4	5	66055567	Missense_Mutation	SNP	C	TCGA-P5-A737-01A-11D-A32B-08		66055567	114859693	12	32335											
HIST1H1T	3010	broad.mit.edu	37	6	26107808	26107808	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A737-01A-11D-A32B-08	TCGA-P5-A737-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936493de-1bf3-4ba3-8fd1-3365e35605c8	732b972d-1257-41a8-905a-7407e4a36995	g.chr6:26107808C>T	ENST00000338379.4	-	1	556	c.514G>A	c.(514-516)Gga>Aga	p.G172R		NM_005323.3	NP_005314.2	P22492	H1T_HUMAN	histone cluster 1, H1t	172					cell differentiation|multicellular organismal development|nucleosome assembly|spermatogenesis	nucleosome	DNA binding			breast(2)|endometrium(1)|lung(3)|ovary(2)|prostate(1)	9						CCCTTGGCTCCTTTAGCCTTT	0.478													32	58					0	0	1	0	0	T	26107808	C	T	26107808	3	4	371	1	0	0	0	0	1	0	0	0	7168	690	24	2	113	2	HIST1H1T	6	26107808	Missense_Mutation	SNP	C	TCGA-P5-A737-01A-11D-A32B-08		26107808	145007259	13	32336											
PHIP	55023	broad.mit.edu	37	6	79770432	79770432	+	Missense_Mutation	SNP	T	T	G			TCGA-P5-A737-01A-11D-A32B-08	TCGA-P5-A737-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936493de-1bf3-4ba3-8fd1-3365e35605c8	732b972d-1257-41a8-905a-7407e4a36995	g.chr6:79770432T>G	ENST00000275034.4	-	5	460	c.293A>C	c.(292-294)cAa>cCa	p.Q98P		NM_017934.5	NP_060404	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	98					insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis	nucleus	insulin receptor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		TAATAAAGTTTGTACTCCAGG	0.343													12	30					0	0	1	0	0	G	79770432	T	G	79770432	3	3	371	1	0	0	0	0	1	0	0	0	11890	1812	63	5	5316	5	PHIP	6	79770432	Missense_Mutation	SNP	T	TCGA-P5-A737-01A-11D-A32B-08	53662624	79770432	91344635	14	32337											
ABCA13	154664	broad.mit.edu	37	7	48311922	48311922	+	Missense_Mutation	SNP	A	A	G			TCGA-P5-A737-01A-11D-A32B-08	TCGA-P5-A737-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936493de-1bf3-4ba3-8fd1-3365e35605c8	732b972d-1257-41a8-905a-7407e4a36995	g.chr7:48311922A>G	ENST00000435803.1	+	17	2683	c.2659A>G	c.(2659-2661)Atg>Gtg	p.M887V		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	887					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						ATCACCAGCTATGAACATAGA	0.353													34	54					0	0	1	0	0	G	48311922	A	G	48311922	3	3	371	1	0	0	0	0	1	0	0	0	31	449	16	3	2554	3	ABCA13	7	48311922	Missense_Mutation	SNP	A	TCGA-P5-A737-01A-11D-A32B-08		48311922	110826741	15	32338											
OR13C5	138799	broad.mit.edu	37	9	107361002	107361002	+	Silent	SNP	C	C	T	rs78992791	byFrequency	TCGA-P5-A737-01A-11D-A32B-08	TCGA-P5-A737-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936493de-1bf3-4ba3-8fd1-3365e35605c8	732b972d-1257-41a8-905a-7407e4a36995	g.chr9:107361002C>T	ENST00000374779.2	-	1	786	c.693G>A	c.(691-693)tcG>tcA	p.S231S		NM_001004482.1	NP_001004482.1	Q8NGS8	O13C5_HUMAN	olfactory receptor, family 13, subfamily C, member 5	231					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(4)	28						TTCTCCCCTCCGAAGAGCTAA	0.428													40	63					0	0	1	0	0	T	107361002	C	T	107361002	2	4	371	1	0	0	0	0	0	0	0	1	10985	639	23	1		1	OR13C5	9	107361002	Silent	SNP	C	TCGA-P5-A737-01A-11D-A32B-08		107361002	33852429	16	32339											
HDHD3	81932	broad.mit.edu	37	9	116136675	116136675	+	Translation_Start_Site	SNP	C	C	T			TCGA-P5-A737-01A-11D-A32B-08	TCGA-P5-A737-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936493de-1bf3-4ba3-8fd1-3365e35605c8	732b972d-1257-41a8-905a-7407e4a36995	g.chr9:116136675C>T	ENST00000238379.5	-	0	857				HDHD3_ENST00000485934.1_5'UTR|HDHD3_ENST00000374180.3_De_novo_Start_OutOfFrame	NM_031219.2	NP_112496.1	Q9BSH5	HDHD3_HUMAN	haloacid dehalogenase-like hydrolase domain containing 3								phosphoglycolate phosphatase activity|protein binding			large_intestine(2)|liver(1)	3						TCAGGTCCCACGGTGGGTCCC	0.587													5	9					0	0	1	0	0	T	116136675	C	T	116136675	1	4	371	1	0	0	0	0	0	0	0	0	7065	551	19	1		1	HDHD3	9	116136675	Translation_Start_Site	SNP	C	TCGA-P5-A737-01A-11D-A32B-08	8775673	116136675	25076756	17	32340											
WDR38	401551	broad.mit.edu	37	9	127618017	127618017	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A737-01A-11D-A32B-08	TCGA-P5-A737-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936493de-1bf3-4ba3-8fd1-3365e35605c8	732b972d-1257-41a8-905a-7407e4a36995	g.chr9:127618017C>T	ENST00000373574.1	+	3	351	c.295C>T	c.(295-297)Cgg>Tgg	p.R99W		NM_001045476.1|NM_001276374.1	NP_001038941.1|NP_001263303.1	Q5JTN6	WDR38_HUMAN	WD repeat domain 38	99										breast(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	8						GAAGTGTCTGCGGGTCCTGAA	0.617											OREG0019485	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	87					0	0	1	0	0	T	127618017	C	T	127618017	3	4	371	1	0	0	0	0	1	0	0	0	17352	759	27	1	305	1	WDR38	9	127618017	Missense_Mutation	SNP	C	TCGA-P5-A737-01A-11D-A32B-08	11481342	127618017	13595414	18	32341											
OR4C15	81309	broad.mit.edu	37	11	55322861	55322861	+	Missense_Mutation	SNP	T	T	C			TCGA-P5-A737-01A-11D-A32B-08	TCGA-P5-A737-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936493de-1bf3-4ba3-8fd1-3365e35605c8	732b972d-1257-41a8-905a-7407e4a36995	g.chr11:55322861T>C	ENST00000314644.2	+	1	1079	c.1079T>C	c.(1078-1080)gTg>gCg	p.V360A		NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C, member 15	306					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						AGACTGATGGTGGTTTCTGAT	0.303										HNSCC(20;0.049)			4	66					0	0	1	0	0	C	55322861	T	C	55322861	3	2	371	1	0	0	0	0	1	0	0	0	11096	1696	59	3	1081	3	OR4C15	11	55322861	Missense_Mutation	SNP	T	TCGA-P5-A737-01A-11D-A32B-08		55322861	79683655	19	32342											
GIF	2694	broad.mit.edu	37	11	59612897	59612897	+	Silent	SNP	G	G	A			TCGA-P5-A737-01A-11D-A32B-08	TCGA-P5-A737-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936493de-1bf3-4ba3-8fd1-3365e35605c8	732b972d-1257-41a8-905a-7407e4a36995	g.chr11:59612897G>A	ENST00000257248.2	-	1	77	c.30C>T	c.(28-30)agC>agT	p.S10S	GIF_ENST00000541311.1_5'UTR	NM_005142.2	NP_005133.2	P27352	IF_HUMAN	gastric intrinsic factor (vitamin B synthesis)	10					cobalamin metabolic process|cobalamin transport|cobalt ion transport	apical plasma membrane|endosome|extracellular space|microvillus	cobalamin binding			large_intestine(4)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	17						CCCAGAGAAGGCTCAGGAGGT	0.512													14	97					0	0	1	0	0	A	59612897	G	A	59612897	2	1	371	1	0	0	0	0	0	0	0	1	6418	1194	42	2		2	GIF	11	59612897	Silent	SNP	G	TCGA-P5-A737-01A-11D-A32B-08	4290036	59612897	75393619	20	32343											
SLC38A2	54407	broad.mit.edu	37	12	46758436	46758436	+	Silent	SNP	A	A	G			TCGA-P5-A737-01A-11D-A32B-08	TCGA-P5-A737-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936493de-1bf3-4ba3-8fd1-3365e35605c8	732b972d-1257-41a8-905a-7407e4a36995	g.chr12:46758436A>G	ENST00000256689.5	-	9	1140	c.696T>C	c.(694-696)ttT>ttC	p.F232F	SLC38A2_ENST00000547252.1_5'UTR|SLC38A2_ENST00000551374.1_Silent_p.F70F	NM_018976.4	NP_061849.2	Q96QD8	S38A2_HUMAN	solute carrier family 38, member 2	232					cellular nitrogen compound metabolic process|glutamate secretion|neurotransmitter secretion|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	18	Lung SC(27;0.192)|Renal(347;0.236)		OV - Ovarian serous cystadenocarcinoma(5;0.0048)|Epithelial(2;0.0374)	GBM - Glioblastoma multiforme(48;0.226)		CCACAATCAGAAAGAACACCA	0.328													22	29					0	0	1	0	0	G	46758436	A	G	46758436	2	3	371	1	0	0	0	0	0	0	0	1	14659	243	9	3		3	SLC38A2	12	46758436	Silent	SNP	A	TCGA-P5-A737-01A-11D-A32B-08		46758436	87093459	21	32344											
ZFYVE1	53349	broad.mit.edu	37	14	73491039	73491039	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A737-01A-11D-A32B-08	TCGA-P5-A737-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936493de-1bf3-4ba3-8fd1-3365e35605c8	732b972d-1257-41a8-905a-7407e4a36995	g.chr14:73491039G>A	ENST00000556143.1	-	2	898	c.178C>T	c.(178-180)Cgg>Tgg	p.R60W	ZFYVE1_ENST00000553891.1_Missense_Mutation_p.R60W|ZFYVE1_ENST00000318876.5_Missense_Mutation_p.R60W	NM_001281735.1|NM_021260.2	NP_001268664.1|NP_067083.1	Q9HBF4	ZFYV1_HUMAN	zinc finger, FYVE domain containing 1	60						endoplasmic reticulum|Golgi stack|perinuclear region of cytoplasm	1-phosphatidylinositol binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(17)|ovary(1)|prostate(2)|skin(1)	35		all_lung(585;1.33e-09)		OV - Ovarian serous cystadenocarcinoma(108;1.6e-46)|BRCA - Breast invasive adenocarcinoma(234;0.00349)		AGTCTTATCCGCTCATGGTTT	0.547													4	110					0	0	1	0	0	A	73491039	G	A	73491039	3	1	371	1	0	0	0	0	1	0	0	0	17721	1086	38	1	2199	1	ZFYVE1	14	73491039	Missense_Mutation	SNP	G	TCGA-P5-A737-01A-11D-A32B-08		73491039	33858501	22	32345											
OCA2	4948	broad.mit.edu	37	15	28202829	28202829	+	Silent	SNP	C	C	T			TCGA-P5-A737-01A-11D-A32B-08	TCGA-P5-A737-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936493de-1bf3-4ba3-8fd1-3365e35605c8	732b972d-1257-41a8-905a-7407e4a36995	g.chr15:28202829C>T	ENST00000354638.3	-	16	1844	c.1689G>A	c.(1687-1689)ccG>ccA	p.P563P	OCA2_ENST00000353809.5_Silent_p.P539P|OCA2_ENST00000382996.2_Silent_p.P563P	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II	563					eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		CGCGGCTGGCCGGGCTGATGC	0.632									Oculocutaneous Albinism				5	38					0	0	1	0	0	T	28202829	C	T	28202829	2	4	371	1	0	0	0	0	0	0	0	1	10863	639	23	1		1	OCA2	15	28202829	Silent	SNP	C	TCGA-P5-A737-01A-11D-A32B-08		28202829	74328563	23	32346											
PRTG	283659	broad.mit.edu	37	15	55916585	55916585	+	Silent	SNP	T	T	C			TCGA-P5-A737-01A-11D-A32B-08	TCGA-P5-A737-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936493de-1bf3-4ba3-8fd1-3365e35605c8	732b972d-1257-41a8-905a-7407e4a36995	g.chr15:55916585T>C	ENST00000389286.4	-	18	3095	c.3048A>G	c.(3046-3048)gaA>gaG	p.E1016E		NM_173814.4	NP_776175.2	Q2VWP7	PRTG_HUMAN	protogenin	1016					multicellular organismal development	integral to membrane				breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)		GCATTAAAGATTCTTCATTTC	0.473													3	84					0	0	1	0	0	C	55916585	T	C	55916585	2	2	371	1	0	0	0	0	0	0	0	1	12687	1490	52	3		3	PRTG	15	55916585	Silent	SNP	T	TCGA-P5-A737-01A-11D-A32B-08	27713756	55916585	46614807	24	32347											
TTC23	64927	broad.mit.edu	37	15	99678297	99678297	+	Nonsense_Mutation	SNP	G	G	C			TCGA-P5-A737-01A-11D-A32B-08	TCGA-P5-A737-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936493de-1bf3-4ba3-8fd1-3365e35605c8	732b972d-1257-41a8-905a-7407e4a36995	g.chr15:99678297G>C	ENST00000394132.2	-	14	2079	c.1262C>G	c.(1261-1263)tCa>tGa	p.S421*	TTC23_ENST00000558613.1_Nonsense_Mutation_p.S421*|TTC23_ENST00000394135.3_Nonsense_Mutation_p.S421*|TTC23_ENST00000394136.1_Nonsense_Mutation_p.S421*|TTC23_ENST00000558663.1_Nonsense_Mutation_p.S421*|TTC23_ENST00000262074.4_Nonsense_Mutation_p.S421*			Q5W5X9	TTC23_HUMAN	tetratricopeptide repeat domain 23	421							binding			endometrium(2)|large_intestine(3)|lung(9)|urinary_tract(2)	16	all_cancers(4;1.49e-13)|Lung NSC(78;0.000545)|all_lung(78;0.00121)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		all cancers(5;8.11e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00215)			TTTGGCTTTTGATGCCTGCCT	0.637													19	19					0	0	1	0	0	C	99678297	G	C	99678297	4	2	371	1	0	0	0	0	0	1	0	0	16752	1294	45	5	85	5	TTC23	15	99678297	Nonsense_Mutation	SNP	G	TCGA-P5-A737-01A-11D-A32B-08	43761712	99678297	2853095	25	32348											
NLRC3	197358	broad.mit.edu	37	16	3606946	3606946	+	RNA	SNP	C	C	T			TCGA-P5-A737-01A-11D-A32B-08	TCGA-P5-A737-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936493de-1bf3-4ba3-8fd1-3365e35605c8	732b972d-1257-41a8-905a-7407e4a36995	g.chr16:3606946C>T	ENST00000301749.7	-	0	2554				NLRC3_ENST00000448023.2_RNA|NLRC3_ENST00000419350.2_RNA|NLRC3_ENST00000359128.5_RNA|NLRC3_ENST00000603507.1_RNA	NM_178844.2	NP_849172.2	Q7RTR2	NLRC3_HUMAN	NLR family, CARD domain containing 3						I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|T cell activation	cytoplasm	ATP binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						ATCTTCAAAGCGTCTGCCAGC	0.582													11	10					0	0	1	0	0	T	3606946	C	T	3606946	1	4	371	0	1	0	0	0	0	0	0	0	10515	768	27	1		1	NLRC3	16	3606946	RNA	SNP	C	TCGA-P5-A737-01A-11D-A32B-08		3606946	86747807	26	32349											
ZNF333	84449	broad.mit.edu	37	19	14830055	14830055	+	Missense_Mutation	SNP	C	C	G			TCGA-P5-A737-01A-11D-A32B-08	TCGA-P5-A737-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936493de-1bf3-4ba3-8fd1-3365e35605c8	732b972d-1257-41a8-905a-7407e4a36995	g.chr19:14830055C>G	ENST00000292530.6	+	12	2007	c.1916C>G	c.(1915-1917)aCc>aGc	p.T639S	ZNF333_ENST00000540689.2_Intron|ZNF333_ENST00000536363.1_Missense_Mutation_p.T530S	NM_032433.2	NP_115809.1	Q96JL9	ZN333_HUMAN	zinc finger protein 333	639					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|prostate(1)	21						CACAAAAGAACCCATGTGGGA	0.453													7	67					0	0	1	0	0	G	14830055	C	G	14830055	3	3	371	1	0	0	0	0	1	0	0	0	17907	507	18	5	1958	5	ZNF333	19	14830055	Missense_Mutation	SNP	C	TCGA-P5-A737-01A-11D-A32B-08		14830055	44298928	27	32350											
ZNF444	55311	broad.mit.edu	37	19	56658436	56658436	+	Frame_Shift_Del	DEL	G	G	-			TCGA-P5-A737-01A-11D-A32B-08	TCGA-P5-A737-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936493de-1bf3-4ba3-8fd1-3365e35605c8	732b972d-1257-41a8-905a-7407e4a36995	g.chr19:56658436delG	ENST00000337080.3	+	3	523	c.156delG	c.(154-156)gagfs	p.E52fs	ZNF444_ENST00000592949.1_Frame_Shift_Del_p.E52fs	NM_001253792.1|NM_018337.3	NP_001240721.1|NP_060807.2	Q8N0Y2	ZN444_HUMAN	zinc finger protein 444	52	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(1)|lung(5)	7		Colorectal(82;3.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0531)		TGCGGCCCGAGGTGCACACCA	0.746													2	4	---	---	---	---						-	56658436	G	-	56658436	7	5	371	1	0	1	0	1	0	0	0	0	17974	991	35	0	158	0	ZNF444	19	56658436	Frame_Shift_Del	DEL	G	TCGA-P5-A737-01A-11D-A32B-08	41828381	56658436	2470547	28	32351											
MOV10L1	54456	broad.mit.edu	37	22	50591600	50591600	+	Missense_Mutation	SNP	G	G	C			TCGA-P5-A737-01A-11D-A32B-08	TCGA-P5-A737-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936493de-1bf3-4ba3-8fd1-3365e35605c8	732b972d-1257-41a8-905a-7407e4a36995	g.chr22:50591600G>C	ENST00000262794.5	+	22	3102	c.3019G>C	c.(3019-3021)Gag>Cag	p.E1007Q	MOV10L1_ENST00000354853.2_Missense_Mutation_p.E50Q|MOV10L1_ENST00000540615.1_Missense_Mutation_p.E987Q|MOV10L1_ENST00000395843.1_Missense_Mutation_p.E50Q|MOV10L1_ENST00000395852.1_Missense_Mutation_p.E134Q|MOV10L1_ENST00000545383.1_Missense_Mutation_p.E1007Q|MOV10L1_ENST00000395858.3_Missense_Mutation_p.E1007Q	NM_018995.2	NP_061868.1	Q9BXT6	M10L1_HUMAN	Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse)	1007					germ cell development|multicellular organismal development|spermatogenesis		ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding			breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		GCTGGGCTGGGAGAAGTTGCC	0.587													46	42					0	0	1	0	0	C	50591600	G	C	50591600	3	2	371	1	0	0	0	0	1	0	0	0	9768	1175	41	5	3158	5	MOV10L1	22	50591600	Missense_Mutation	SNP	G	TCGA-P5-A737-01A-11D-A32B-08		50591600	712966	29	32352											
PLXNA3	55558	broad.mit.edu	37	X	153697253	153697253	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A737-01A-11D-A32B-08	TCGA-P5-A737-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936493de-1bf3-4ba3-8fd1-3365e35605c8	732b972d-1257-41a8-905a-7407e4a36995	g.chrX:153697253G>A	ENST00000369682.3	+	25	4550	c.4375G>A	c.(4375-4377)Gca>Aca	p.A1459T		NM_017514.3	NP_059984.3	P51805	PLXA3_HUMAN	plexin A3	1459					axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CACGGGCGAGGCACGATACTC	0.617													3	41					0	0	1	0	0	A	153697253	G	A	153697253	3	1	371	1	0	0	0	0	1	0	0	0	12169	1203	42	2	4469	2	PLXNA3	23	153697253	Missense_Mutation	SNP	G	TCGA-P5-A737-01A-11D-A32B-08		153697253	1573307	30	32353											
ARID1A	8289	broad.mit.edu	37	1	27088645	27088646	+	Frame_Shift_Del	DEL	TA	TA	-			TCGA-P5-A77W-01A-11D-A32B-08	TCGA-P5-A77W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d366d4-b18f-44b3-9e4e-fc49e38c5601	5e92215f-5cb4-459d-91fa-0b0026d14be5	g.chr1:27088645_27088646delTA	ENST00000324856.7	+	7	2625_2626	c.2254_2255delTA	c.(2254-2256)tatfs	p.Y752fs	ARID1A_ENST00000457599.2_Frame_Shift_Del_p.Y752fs|ARID1A_ENST00000374152.2_Frame_Shift_Del_p.Y369fs	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	752					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		ACAAATAGGTTATATGCAGAGG	0.48			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"								7	66	---	---	---	---						-	27088646	TA	-	27088645	7	5	372	1	0	1	0	1	0	0	0	0	910	1754	61	0	2280	0	ARID1A	1	27088645	Frame_Shift_Del	DEL	TA	TCGA-P5-A77W-01A-11D-A32B-08		27088645	222161976	1	32354											
GNAI3	2773	broad.mit.edu	37	1	110121875	110121876	+	Frame_Shift_Ins	INS	-	-	G			TCGA-P5-A77W-01A-11D-A32B-08	TCGA-P5-A77W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d366d4-b18f-44b3-9e4e-fc49e38c5601	5e92215f-5cb4-459d-91fa-0b0026d14be5	g.chr1:110121875_110121876insG	ENST00000369851.4	+	4	463_464	c.353_354insG	c.(352-357)gtcatgfs	p.M119fs		NM_006496.3	NP_006487.1	P08754	GNAI3_HUMAN	guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 3	119					cell cycle|cell division|inhibition of adenylate cyclase activity by G-protein signaling pathway|platelet activation|synaptic transmission	centrosome|heterotrimeric G-protein complex|midbody	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|metabotropic serotonin receptor binding|signal transducer activity			NS(1)|endometrium(2)|kidney(1)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	12		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.046)|Colorectal(144;0.119)|Epithelial(280;0.139)|all cancers(265;0.147)|LUSC - Lung squamous cell carcinoma(189;0.237)		GAAGAAGGAGTCATGACTCCAG	0.446													7	55	---	---	---	---						G	110121876	-	G	110121875	7	5	372	1	0	1	1	0	0	0	0	0	6548	1667	58	0	367	0	GNAI3	1	110121875	Frame_Shift_Ins	INS	-	TCGA-P5-A77W-01A-11D-A32B-08	83033230	110121875	139128746	2	32355											
NBPF14	25832	broad.mit.edu	37	1	148009497	148009497	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A77W-01A-11D-A32B-08	TCGA-P5-A77W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d366d4-b18f-44b3-9e4e-fc49e38c5601	5e92215f-5cb4-459d-91fa-0b0026d14be5	g.chr1:148009497C>T	ENST00000369219.1	-	16	1826	c.1810G>A	c.(1810-1812)Gat>Aat	p.D604N				Q5TI25	NBPFE_HUMAN	neuroblastoma breakpoint family, member 14	604	NBPF 7.					cytoplasm				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(23)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	42	all_hematologic(923;0.032)					TCTTTCTCATCCAACAGCTCC	0.478													20	164					0	0	1	0	0	T	148009497	C	T	148009497	3	4	372	1	0	0	0	0	1	0	0	0	10242	855	30	2	983	2	NBPF14	1	148009497	Missense_Mutation	SNP	C	TCGA-P5-A77W-01A-11D-A32B-08	37887622	148009497	101241124	3	32356											
DENND4B	9909	broad.mit.edu	37	1	153907309	153907309	+	Silent	SNP	C	C	T			TCGA-P5-A77W-01A-11D-A32B-08	TCGA-P5-A77W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d366d4-b18f-44b3-9e4e-fc49e38c5601	5e92215f-5cb4-459d-91fa-0b0026d14be5	g.chr1:153907309C>T	ENST00000361217.4	-	18	3118	c.2700G>A	c.(2698-2700)caG>caA	p.Q900Q		NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	900	Gln-rich.							p.Q788Q(1)|p.Q900Q(1)		NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			gctgctgttgctgctgctgct	0.642													4	59					0	0	1	0	0	T	153907309	C	T	153907309	2	4	372	1	0	0	0	0	0	0	0	1	4462	796	28	2		2	DENND4B	1	153907309	Silent	SNP	C	TCGA-P5-A77W-01A-11D-A32B-08	5897812	153907309	95343312	4	32357											
HSD17B7	51478	broad.mit.edu	37	1	162769603	162769603	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A77W-01A-11D-A32B-08	TCGA-P5-A77W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d366d4-b18f-44b3-9e4e-fc49e38c5601	5e92215f-5cb4-459d-91fa-0b0026d14be5	g.chr1:162769603G>A	ENST00000367917.3	+	5	586	c.518G>A	c.(517-519)aGt>aAt	p.S173N	HSD17B7_ENST00000485405.1_3'UTR|HSD17B7_ENST00000254521.3_Missense_Mutation_p.S173N			P56937	DHB7_HUMAN	hydroxysteroid (17-beta) dehydrogenase 7	173					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	3-keto sterol reductase activity|estradiol 17-beta-dehydrogenase activity	p.S173N(4)		endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	9	all_hematologic(112;0.115)				NADH(DB00157)	TCATCTCGCAGTGCAAGGAAA	0.458													3	46					0	0	1	0	0	A	162769603	G	A	162769603	3	1	372	1	0	0	0	0	1	0	0	0	7429	1029	36	2	536	2	HSD17B7	1	162769603	Missense_Mutation	SNP	G	TCGA-P5-A77W-01A-11D-A32B-08	8862294	162769603	86481018	5	32358											
HMCN1	83872	broad.mit.edu	37	1	185988673	185988673	+	Splice_Site	SNP	T	T	A			TCGA-P5-A77W-01A-11D-A32B-08	TCGA-P5-A77W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d366d4-b18f-44b3-9e4e-fc49e38c5601	5e92215f-5cb4-459d-91fa-0b0026d14be5	g.chr1:185988673T>A	ENST00000271588.4	+	35	5700	c.5471T>A	c.(5470-5472)gTt>gAt	p.V1824D	HMCN1_ENST00000367492.2_Splice_Site_p.V1824D	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	1824					response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TTAAATATAGTTCCTCCAACA	0.403													10	58					0	0	1	0	0	A	185988673	T	A	185988673	5	1	372	1	0	0	0	0	0	0	1	0	7261	1739	60	5	5609	5	HMCN1	1	185988673	Splice_Site	SNP	T	TCGA-P5-A77W-01A-11D-A32B-08	23219070	185988673	63261948	6	32359	142	3									
HMCN1	83872	broad.mit.edu	37	1	185988674	185988674	+	Splice_Site	SNP	T	T	G			TCGA-P5-A77W-01A-11D-A32B-08	TCGA-P5-A77W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d366d4-b18f-44b3-9e4e-fc49e38c5601	5e92215f-5cb4-459d-91fa-0b0026d14be5	g.chr1:185988674T>G	ENST00000271588.4	+	35	5701	c.5472T>G	c.(5470-5472)gtT>gtG	p.V1824V	HMCN1_ENST00000367492.2_Splice_Site_p.V1824V	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	1824					response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TAAATATAGTTCCTCCAACAA	0.403													10	58					0	0	1	0	0	G	185988674	T	G	185988674	5	3	372	1	0	0	0	0	0	0	1	0	7261	1797	62	5	5610	5	HMCN1	1	185988674	Splice_Site	SNP	T	TCGA-P5-A77W-01A-11D-A32B-08	1	185988674	63261947	7	32360	142	3									
HMCN1	83872	broad.mit.edu	37	1	185988675	185988675	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A77W-01A-11D-A32B-08	TCGA-P5-A77W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d366d4-b18f-44b3-9e4e-fc49e38c5601	5e92215f-5cb4-459d-91fa-0b0026d14be5	g.chr1:185988675C>T	ENST00000271588.4	+	35	5702	c.5473C>T	c.(5473-5475)Cct>Tct	p.P1825S	HMCN1_ENST00000367492.2_Missense_Mutation_p.P1825S	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	1825					response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						AAATATAGTTCCTCCAACAAT	0.403													10	58					0	0	1	0	0	T	185988675	C	T	185988675	3	4	372	1	0	0	0	0	1	0	0	0	7261	855	30	2	5611	2	HMCN1	1	185988675	Missense_Mutation	SNP	C	TCGA-P5-A77W-01A-11D-A32B-08	1	185988675	63261946	8	32361	142	3									
HEATR5B	54497	broad.mit.edu	37	2	37306396	37306396	+	Nonsense_Mutation	SNP	G	G	A			TCGA-P5-A77W-01A-11D-A32B-08	TCGA-P5-A77W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d366d4-b18f-44b3-9e4e-fc49e38c5601	5e92215f-5cb4-459d-91fa-0b0026d14be5	g.chr2:37306396G>A	ENST00000233099.5	-	3	300	c.205C>T	c.(205-207)Cga>Tga	p.R69*	HEATR5B_ENST00000354531.2_Nonsense_Mutation_p.R69*	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	69							binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				AATAATTTTCGTGTAGGTGGT	0.313													13	27					0	0	1	0	0	A	37306396	G	A	37306396	4	1	372	1	0	0	0	0	0	1	0	0	7073	1153	40	1	6146	1	HEATR5B	2	37306396	Nonsense_Mutation	SNP	G	TCGA-P5-A77W-01A-11D-A32B-08		37306396	205892977	9	32362											
LY75	4065	broad.mit.edu	37	2	160741690	160741690	+	Missense_Mutation	SNP	G	G	T			TCGA-P5-A77W-01A-11D-A32B-08	TCGA-P5-A77W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d366d4-b18f-44b3-9e4e-fc49e38c5601	5e92215f-5cb4-459d-91fa-0b0026d14be5	g.chr2:160741690G>T	ENST00000263636.4	-	6	1055	c.1028C>A	c.(1027-1029)cCa>cAa	p.P343Q	LY75-CD302_ENST00000505052.1_Missense_Mutation_p.P343Q|LY75_ENST00000554112.1_Missense_Mutation_p.P343Q|LY75_ENST00000553424.1_Missense_Mutation_p.P343Q|LY75-CD302_ENST00000504764.1_Missense_Mutation_p.P343Q	NM_002349.3	NP_002340.2			lymphocyte antigen 75											NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59				COAD - Colon adenocarcinoma(177;0.132)		ATTATTTAATGGTTTCCTGCA	0.398													34	52					6.90743e-12	7.87125e-12	1	1	0	T	160741690	G	T	160741690	3	4	372	1	0	0	0	0	1	0	0	0	9145	1348	47	5	4260	5	LY75	2	160741690	Missense_Mutation	SNP	G	TCGA-P5-A77W-01A-11D-A32B-08	123435294	160741690	82457683	10	32363											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-P5-A77W-01A-11D-A32B-08	TCGA-P5-A77W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d366d4-b18f-44b3-9e4e-fc49e38c5601	5e92215f-5cb4-459d-91fa-0b0026d14be5	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	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								19	24					0	0	1	0	0	T	209113112	C	T	209113112	3	4	372	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-P5-A77W-01A-11D-A32B-08	48371422	209113112	34086261	11	32364											
ARIH2	10425	broad.mit.edu	37	3	49004696	49004701	+	In_Frame_Del	DEL	GGCGTG	GGCGTG	-			TCGA-P5-A77W-01A-11D-A32B-08	TCGA-P5-A77W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d366d4-b18f-44b3-9e4e-fc49e38c5601	5e92215f-5cb4-459d-91fa-0b0026d14be5	g.chr3:49004696_49004701delGGCGTG	ENST00000356401.4	+	6	865_870	c.526_531delGGCGTG	c.(526-531)ggcgtgdel	p.GV180del	ARIH2_ENST00000490095.1_3'UTR|ARIH2_ENST00000449376.1_In_Frame_Del_p.GV180del	NM_006321.2	NP_006312.1	O95376	ARI2_HUMAN	ariadne RBR E3 ubiquitin protein ligase 2	180					developmental cell growth|hemopoietic stem cell proliferation|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	13				BRCA - Breast invasive adenocarcinoma(193;9.42e-05)|Kidney(197;0.00258)|KIRC - Kidney renal clear cell carcinoma(197;0.00269)		CGTCAAGGACGGCGTGGGCGTGGGTG	0.476													7	60	---	---	---	---						-	49004701	GGCGTG	-	49004696	7	5	372	1	0	1	0	1	0	0	0	0	921	1116	39	0	540	0	ARIH2	3	49004696	In_Frame_Del	DEL	GGCGTG	TCGA-P5-A77W-01A-11D-A32B-08		49004696	149017734	12	32365											
KIAA1407	57577	broad.mit.edu	37	3	113724396	113724396	+	Missense_Mutation	SNP	C	C	A			TCGA-P5-A77W-01A-11D-A32B-08	TCGA-P5-A77W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d366d4-b18f-44b3-9e4e-fc49e38c5601	5e92215f-5cb4-459d-91fa-0b0026d14be5	g.chr3:113724396C>A	ENST00000295878.3	-	10	1973	c.1827G>T	c.(1825-1827)aaG>aaT	p.K609N	KIAA1407_ENST00000545063.1_Missense_Mutation_p.K440N	NM_020817.1	NP_065868.1	Q8NCU4	K1407_HUMAN	KIAA1407	609										endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						CTTCTCTGGGCTTTGACAGCA	0.502													7	82					5.18039e-06	5.51824e-06	1	1	0	A	113724396	C	A	113724396	3	1	372	1	0	0	0	0	1	0	0	0	8271	796	28	4	1015	4	KIAA1407	3	113724396	Missense_Mutation	SNP	C	TCGA-P5-A77W-01A-11D-A32B-08	64719700	113724396	84298034	13	32366											
SLCO4C1	353189	broad.mit.edu	37	5	101627180	101627180	+	Silent	SNP	T	T	C			TCGA-P5-A77W-01A-11D-A32B-08	TCGA-P5-A77W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d366d4-b18f-44b3-9e4e-fc49e38c5601	5e92215f-5cb4-459d-91fa-0b0026d14be5	g.chr5:101627180T>C	ENST00000310954.6	-	2	772	c.486A>G	c.(484-486)gtA>gtG	p.V162V		NM_180991.4	NP_851322.3	Q6ZQN7	SO4C1_HUMAN	solute carrier organic anion transporter family, member 4C1	162					cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		CAAAGAATGATACAAATAAAG	0.398													5	27					0	0	1	0	0	C	101627180	T	C	101627180	2	2	372	1	0	0	0	0	0	0	0	1	14785	1393	49	3		3	SLCO4C1	5	101627180	Silent	SNP	T	TCGA-P5-A77W-01A-11D-A32B-08		101627180	79288080	14	32367											
SERPINB9	5272	broad.mit.edu	37	6	2900835	2900836	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-P5-A77W-01A-11D-A32B-08	TCGA-P5-A77W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d366d4-b18f-44b3-9e4e-fc49e38c5601	5e92215f-5cb4-459d-91fa-0b0026d14be5	g.chr6:2900835_2900836delAG	ENST00000380698.4	-	2	99_100	c.10_11delCT	c.(10-12)cttfs	p.L4fs		NM_004155.5	NP_004146.1	P50453	SPB9_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 9	4					anti-apoptosis|cellular response to estrogen stimulus|immune response|mast cell mediated immunity|regulation of proteolysis	cytosol|extracellular space|nucleus	caspase inhibitor activity|protease binding|serine-type endopeptidase inhibitor activity			breast(1)|endometrium(4)|large_intestine(3)|lung(5)|pancreas(1)|prostate(1)	15	Ovarian(93;0.0412)	all_hematologic(90;0.108)				TGCATTAGAAAGAGTTTCCATG	0.436													16	161	---	---	---	---						-	2900836	AG	-	2900835	7	5	372	1	0	1	0	1	0	0	0	0	14162	72	3	0	1143	0	SERPINB9	6	2900835	Frame_Shift_Del	DEL	AG	TCGA-P5-A77W-01A-11D-A32B-08		2900835	168214232	15	32368											
MEP1A	4224	broad.mit.edu	37	6	46793156	46793156	+	Missense_Mutation	SNP	T	T	C			TCGA-P5-A77W-01A-11D-A32B-08	TCGA-P5-A77W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d366d4-b18f-44b3-9e4e-fc49e38c5601	5e92215f-5cb4-459d-91fa-0b0026d14be5	g.chr6:46793156T>C	ENST00000230588.4	+	8	713	c.704T>C	c.(703-705)tTt>tCt	p.F235S		NM_005588.2	NP_005579.2	Q16819	MEP1A_HUMAN	meprin A, alpha (PABA peptide hydrolase)	235	Metalloprotease.				digestion|proteolysis	extracellular space|integral to plasma membrane|soluble fraction	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42			Lung(136;0.192)			ATCCCTGAGTTTAACTCCATT	0.428													18	39					0	0	1	0	0	C	46793156	T	C	46793156	3	2	372	1	0	0	0	0	1	0	0	0	9525	1841	64	3	734	3	MEP1A	6	46793156	Missense_Mutation	SNP	T	TCGA-P5-A77W-01A-11D-A32B-08	43892321	46793156	124321911	16	32369											
ADAM28	10863	broad.mit.edu	37	8	24199150	24199150	+	Silent	SNP	G	G	A	rs145453785	byFrequency	TCGA-P5-A77W-01A-11D-A32B-08	TCGA-P5-A77W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d366d4-b18f-44b3-9e4e-fc49e38c5601	5e92215f-5cb4-459d-91fa-0b0026d14be5	g.chr8:24199150G>A	ENST00000265769.4	+	16	1820	c.1710G>A	c.(1708-1710)tcG>tcA	p.S570S	RP11-624C23.1_ENST00000518988.1_RNA|RP11-624C23.1_ENST00000523700.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA|ADAM28_ENST00000397649.3_Silent_p.S317S|RP11-624C23.1_ENST00000523578.1_RNA	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28	570	Cys-rich.				proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding	p.S570S(1)		central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		AAGGTGGGTCGGATAATTTGC	0.413													7	108					0	0	1	0	0	A	24199150	G	A	24199150	2	1	372	1	0	0	0	0	0	0	0	1	245	1103	39	1		1	ADAM28	8	24199150	Silent	SNP	G	TCGA-P5-A77W-01A-11D-A32B-08		24199150	122164872	17	32370											
PTK2B	2185	broad.mit.edu	37	8	27303351	27303351	+	Missense_Mutation	SNP	G	G	T			TCGA-P5-A77W-01A-11D-A32B-08	TCGA-P5-A77W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d366d4-b18f-44b3-9e4e-fc49e38c5601	5e92215f-5cb4-459d-91fa-0b0026d14be5	g.chr8:27303351G>T	ENST00000397501.1	+	29	3063	c.2255G>T	c.(2254-2256)aGc>aTc	p.S752I	PTK2B_ENST00000397497.4_Intron|PTK2B_ENST00000517339.1_Intron|PTK2B_ENST00000544172.1_Missense_Mutation_p.S752I|PTK2B_ENST00000346049.5_Missense_Mutation_p.S752I|PTK2B_ENST00000420218.2_Intron|PTK2B_ENST00000338238.4_Intron	NM_173174.2	NP_775266.1	Q14289	FAK2_HUMAN	protein tyrosine kinase 2 beta	752	Pro-rich.				apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Ovarian(32;2.72e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)		ACGCTCACCAGCCCTATGGAG	0.542													5	137					1.23904e-05	1.29177e-05	1	1	0	T	27303351	G	T	27303351	3	4	372	1	0	0	0	0	1	0	0	0	12813	971	34	4	2345	4	PTK2B	8	27303351	Missense_Mutation	SNP	G	TCGA-P5-A77W-01A-11D-A32B-08	3104201	27303351	119060671	18	32371											
TGS1	96764	broad.mit.edu	37	8	56699384	56699384	+	Silent	SNP	A	A	T			TCGA-P5-A77W-01A-11D-A32B-08	TCGA-P5-A77W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d366d4-b18f-44b3-9e4e-fc49e38c5601	5e92215f-5cb4-459d-91fa-0b0026d14be5	g.chr8:56699384A>T	ENST00000260129.5	+	4	1404	c.927A>T	c.(925-927)acA>acT	p.T309T		NM_024831.6	NP_079107.6	Q96RS0	TGS1_HUMAN	trimethylguanosine synthase 1	309					cellular lipid metabolic process|ncRNA metabolic process|regulation of transcription, DNA-dependent|RNA capping|spliceosomal snRNP assembly|transcription, DNA-dependent	Cajal body|cytosol	RNA trimethylguanosine synthase activity			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		all_lung(136;0.119)|all_epithelial(80;0.125)|Lung NSC(129;0.147)	Epithelial(17;0.00027)|all cancers(17;0.00251)			GCTCTGGTACAAGTGATAAGG	0.343													15	35					0	0	1	0	0	T	56699384	A	T	56699384	2	4	372	1	0	0	0	0	0	0	0	1	15897	117	5	5		5	TGS1	8	56699384	Silent	SNP	A	TCGA-P5-A77W-01A-11D-A32B-08	29396033	56699384	89664638	19	32372											
MATN2	4147	broad.mit.edu	37	8	98943528	98943528	+	Missense_Mutation	SNP	G	G	T			TCGA-P5-A77W-01A-11D-A32B-08	TCGA-P5-A77W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d366d4-b18f-44b3-9e4e-fc49e38c5601	5e92215f-5cb4-459d-91fa-0b0026d14be5	g.chr8:98943528G>T	ENST00000254898.5	+	3	721	c.490G>T	c.(490-492)Gtc>Ttc	p.V164F	MATN2_ENST00000524308.1_Missense_Mutation_p.V164F|MATN2_ENST00000521689.1_Missense_Mutation_p.V164F|MATN2_ENST00000522025.2_Intron|MATN2_ENST00000520016.1_Missense_Mutation_p.V164F	NM_002380.3|NM_030583.2	NP_002371.3|NP_085072.2	O00339	MATN2_HUMAN	matrilin 2	164	VWFA 1.					proteinaceous extracellular matrix	calcium ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(2)|urinary_tract(1)	31	Breast(36;1.43e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.244)			TGTGCCACGGGTCATAATGAT	0.607													12	23					4.36969e-10	4.86625e-10	1	1	0	T	98943528	G	T	98943528	3	4	372	1	0	0	0	0	1	0	0	0	9384	1261	44	5	496	5	MATN2	8	98943528	Missense_Mutation	SNP	G	TCGA-P5-A77W-01A-11D-A32B-08	42244144	98943528	47420494	20	32373											
POP1	10940	broad.mit.edu	37	8	99142398	99142398	+	Missense_Mutation	SNP	A	A	G			TCGA-P5-A77W-01A-11D-A32B-08	TCGA-P5-A77W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d366d4-b18f-44b3-9e4e-fc49e38c5601	5e92215f-5cb4-459d-91fa-0b0026d14be5	g.chr8:99142398A>G	ENST00000401707.2	+	5	760	c.679A>G	c.(679-681)Aca>Gca	p.T227A	POP1_ENST00000349693.3_Missense_Mutation_p.T227A	NM_001145860.1|NM_001145861.1	NP_001139332.1|NP_001139333.1	Q99575	POP1_HUMAN	processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae)	227					tRNA 5'-leader removal|tRNA catabolic process	nucleolar ribonuclease P complex|ribonuclease MRP complex	identical protein binding|ribonuclease MRP activity|ribonuclease P activity			autonomic_ganglia(1)|breast(3)|endometrium(4)|large_intestine(9)|lung(15)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Breast(36;1.78e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.145)			GGAGAGGCCAACAGTCAAGAG	0.498													5	70					0	0	1	0	0	G	99142398	A	G	99142398	3	3	372	1	0	0	0	0	1	0	0	0	12299	43	2	3	693	3	POP1	8	99142398	Missense_Mutation	SNP	A	TCGA-P5-A77W-01A-11D-A32B-08	198870	99142398	47221624	21	32374											
KANK1	23189	broad.mit.edu	37	9	712394	712397	+	Frame_Shift_Del	DEL	AAAC	AAAC	-			TCGA-P5-A77W-01A-11D-A32B-08	TCGA-P5-A77W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d366d4-b18f-44b3-9e4e-fc49e38c5601	5e92215f-5cb4-459d-91fa-0b0026d14be5	g.chr9:712394_712397delAAAC	ENST00000382303.1	+	7	2280_2283	c.1628_1631delAAAC	c.(1627-1632)gaaacafs	p.ET543fs	KANK1_ENST00000382293.3_Frame_Shift_Del_p.ET385fs|KANK1_ENST00000382297.2_Frame_Shift_Del_p.ET543fs|KANK1_ENST00000489369.1_3'UTR	NM_001256876.1	NP_001243805.1	Q14678	KANK1_HUMAN	KN motif and ankyrin repeat domains 1	543					negative regulation of actin filament polymerization	cytoplasm				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1)	43		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)		ACCTCCGTGGAAACAAACAGTGTA	0.515													7	90	---	---	---	---						-	712397	AAAC	-	712394	7	5	372	1	0	1	0	1	0	0	0	0	8020	246	9	0	1634	0	KANK1	9	712394	Frame_Shift_Del	DEL	AAAC	TCGA-P5-A77W-01A-11D-A32B-08		712394	140501037	22	32375											
LGI1	9211	broad.mit.edu	37	10	95556791	95556791	+	Missense_Mutation	SNP	T	T	C			TCGA-P5-A77W-01A-11D-A32B-08	TCGA-P5-A77W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d366d4-b18f-44b3-9e4e-fc49e38c5601	5e92215f-5cb4-459d-91fa-0b0026d14be5	g.chr10:95556791T>C	ENST00000371418.4	+	8	1165	c.905T>C	c.(904-906)cTg>cCg	p.L302P	LGI1_ENST00000371413.3_Intron|LGI1_ENST00000542308.1_Missense_Mutation_p.L254P	NM_005097.2	NP_005088.1	O95970	LGI1_HUMAN	leucine-rich, glioma inactivated 1	302					axon guidance|cell proliferation|positive regulation of cell growth|positive regulation of synaptic transmission	cell junction|extracellular space|synapse	receptor binding			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(18)|ovary(2)|skin(1)	29		Colorectal(252;0.124)				GTGGCCCAGCTGTTTGGTGGC	0.393													41	73					0	0	1	0	0	C	95556791	T	C	95556791	3	2	372	1	0	0	0	0	1	0	0	0	8791	1580	55	3	935	3	LGI1	10	95556791	Missense_Mutation	SNP	T	TCGA-P5-A77W-01A-11D-A32B-08		95556791	39977956	23	32376											
DCDC1	341019	broad.mit.edu	37	11	30938455	30938455	+	Silent	SNP	T	T	C			TCGA-P5-A77W-01A-11D-A32B-08	TCGA-P5-A77W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d366d4-b18f-44b3-9e4e-fc49e38c5601	5e92215f-5cb4-459d-91fa-0b0026d14be5	g.chr11:30938455T>C	ENST00000597505.1	-	24	3413	c.3414A>G	c.(3412-3414)aaA>aaG	p.K1138K	DCDC1_ENST00000339794.5_Silent_p.K217K|DCDC1_ENST00000406071.2_5'UTR			P59894	DCDC1_HUMAN	doublecortin domain containing 1	0					intracellular signal transduction			p.K217K(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					CAAAGAGCCCTTTTTCCGTTT	0.413													3	53					0	0	1	0	0	C	30938455	T	C	30938455	2	2	372	1	0	0	0	0	0	0	0	1	4307	1624	56	3		3	DCDC1	11	30938455	Silent	SNP	T	TCGA-P5-A77W-01A-11D-A32B-08		30938455	104068061	24	32377											
SLC43A1	8501	broad.mit.edu	37	11	57259302	57259302	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A77W-01A-11D-A32B-08	TCGA-P5-A77W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d366d4-b18f-44b3-9e4e-fc49e38c5601	5e92215f-5cb4-459d-91fa-0b0026d14be5	g.chr11:57259302G>A	ENST00000278426.3	-	9	1260	c.905C>T	c.(904-906)cCc>cTc	p.P302L	SLC43A1_ENST00000533515.1_5'UTR|SLC43A1_ENST00000528450.1_Missense_Mutation_p.P302L	NM_003627.5	NP_003618.1	O75387	LAT3_HUMAN	solute carrier family 43 (amino acid system L transporter), member 1	302					cellular nitrogen compound metabolic process|ion transport	integral to plasma membrane	neutral amino acid transmembrane transporter activity			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						CAGGAAAGTGGGGGAGCAGAG	0.602											OREG0020651	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	47					0	0	1	0	0	A	57259302	G	A	57259302	3	1	372	1	0	0	0	0	1	0	0	0	14687	1232	43	2	802	2	SLC43A1	11	57259302	Missense_Mutation	SNP	G	TCGA-P5-A77W-01A-11D-A32B-08	26320847	57259302	77747214	25	32378											
NCKAP5L	57701	broad.mit.edu	37	12	50189045	50189045	+	Silent	SNP	G	G	A			TCGA-P5-A77W-01A-11D-A32B-08	TCGA-P5-A77W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d366d4-b18f-44b3-9e4e-fc49e38c5601	5e92215f-5cb4-459d-91fa-0b0026d14be5	g.chr12:50189045G>A	ENST00000335999.6	-	8	2799	c.2598C>T	c.(2596-2598)ggC>ggT	p.G866G		NM_001037806.3	NP_001032895.2	Q9HCH0	NCK5L_HUMAN	NCK-associated protein 5-like	862	Pro-rich.									central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2)	18						GGTCAGTGGGGCCAGGTACTA	0.637													4	93					0	0	1	0	0	A	50189045	G	A	50189045	2	1	372	1	0	0	0	0	0	0	0	1	10271	1190	42	2		2	NCKAP5L	12	50189045	Silent	SNP	G	TCGA-P5-A77W-01A-11D-A32B-08		50189045	83662850	26	32379											
CBX5	23468	broad.mit.edu	37	12	54651393	54651393	+	Frame_Shift_Del	DEL	T	T	-			TCGA-P5-A77W-01A-11D-A32B-08	TCGA-P5-A77W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d366d4-b18f-44b3-9e4e-fc49e38c5601	5e92215f-5cb4-459d-91fa-0b0026d14be5	g.chr12:54651393delT	ENST00000209875.4	-	2	178	c.42delA	c.(40-42)tcafs	p.S14fs	CBX5_ENST00000550411.1_Frame_Shift_Del_p.S14fs|CBX5_ENST00000439541.2_Frame_Shift_Del_p.S14fs	NM_012117.2	NP_036249.1	P45973	CBX5_HUMAN	chromobox homolog 5	14	Poly-Ser.				blood coagulation|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|nuclear centromeric heterochromatin|nuclear envelope|nucleolus|transcriptional repressor complex	methylated histone residue binding|protein binding, bridging|repressing transcription factor binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(2)	8						CCTCATCCTCTGAAGAAGAAC	0.502													40	81	---	---	---	---						-	54651393	T	-	54651393	7	5	372	1	0	1	0	1	0	0	0	0	2739	1567	55	0	549	0	CBX5	12	54651393	Frame_Shift_Del	DEL	T	TCGA-P5-A77W-01A-11D-A32B-08	4462348	54651393	79200502	27	32380											
IRAK3	11213	broad.mit.edu	37	12	66641820	66641820	+	Missense_Mutation	SNP	T	T	G			TCGA-P5-A77W-01A-11D-A32B-08	TCGA-P5-A77W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d366d4-b18f-44b3-9e4e-fc49e38c5601	5e92215f-5cb4-459d-91fa-0b0026d14be5	g.chr12:66641820T>G	ENST00000261233.4	+	12	2081	c.1660T>G	c.(1660-1662)Tta>Gta	p.L554V	IRAK3_ENST00000457197.2_Missense_Mutation_p.L493V	NM_007199.2	NP_009130.2	Q9Y616	IRAK3_HUMAN	interleukin-1 receptor-associated kinase 3	554					interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|negative regulation of innate immune response|negative regulation of interleukin-12 production|negative regulation of interleukin-6 production|negative regulation of macrophage cytokine production|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein catabolic process|negative regulation of protein complex disassembly|negative regulation of toll-like receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of macrophage tolerance induction|positive regulation of NF-kappaB transcription factor activity|response to exogenous dsRNA|response to lipopolysaccharide|response to peptidoglycan	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein heterodimerization activity|protein homodimerization activity|protein serine/threonine kinase activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(28;0.0203)		ATCCCAGGACTTAAGGCCCTA	0.458													57	81					0	0	1	0	0	G	66641820	T	G	66641820	3	3	372	1	0	0	0	0	1	0	0	0	7868	1606	56	5	1706	5	IRAK3	12	66641820	Missense_Mutation	SNP	T	TCGA-P5-A77W-01A-11D-A32B-08	11990427	66641820	67210075	28	32381											
NAA16	79612	broad.mit.edu	37	13	41943360	41943362	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-P5-A77W-01A-11D-A32B-08	TCGA-P5-A77W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d366d4-b18f-44b3-9e4e-fc49e38c5601	5e92215f-5cb4-459d-91fa-0b0026d14be5	g.chr13:41943360_41943362delGAA	ENST00000379406.3	+	15	2212_2214	c.1888_1890delGAA	c.(1888-1890)gaadel	p.E634del	NAA16_ENST00000497143.1_3'UTR	NM_024561.4	NP_078837.3	Q6N069	NAA16_HUMAN	N(alpha)-acetyltransferase 16, NatA auxiliary subunit	634					N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent	cytoplasm|transcription factor complex	binding	p.E630D(1)		breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|urinary_tract(2)	31						aaaaagagatgaagaagaagaag	0.345													17	49	---	---	---	---						-	41943362	GAA	-	41943360	7	5	372	1	0	1	0	1	0	0	0	0	10167	1291	45	0	1979	0	NAA16	13	41943360	In_Frame_Del	DEL	GAA	TCGA-P5-A77W-01A-11D-A32B-08		41943360	73226518	29	32382											
ZC3H13	23091	broad.mit.edu	37	13	46543102	46543102	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A77W-01A-11D-A32B-08	TCGA-P5-A77W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d366d4-b18f-44b3-9e4e-fc49e38c5601	5e92215f-5cb4-459d-91fa-0b0026d14be5	g.chr13:46543102C>T	ENST00000242848.4	-	14	3925	c.3577G>A	c.(3577-3579)Ggg>Agg	p.G1193R	ZC3H13_ENST00000282007.3_Missense_Mutation_p.G1193R|ZC3H13_ENST00000378921.2_Missense_Mutation_p.G149R			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	1193	Ser-rich.						nucleic acid binding|zinc ion binding	p.G1193W(1)		cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		CGATTGCTCCCGAGGCTGCTG	0.507													7	184					0	0	1	0	0	T	46543102	C	T	46543102	3	4	372	1	0	0	0	0	1	0	0	0	17624	652	23	1	1133	1	ZC3H13	13	46543102	Missense_Mutation	SNP	C	TCGA-P5-A77W-01A-11D-A32B-08	4599742	46543102	68626776	30	32383											
OR10G2	26534	broad.mit.edu	37	14	22102600	22102600	+	Missense_Mutation	SNP	C	C	A			TCGA-P5-A77W-01A-11D-A32B-08	TCGA-P5-A77W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d366d4-b18f-44b3-9e4e-fc49e38c5601	5e92215f-5cb4-459d-91fa-0b0026d14be5	g.chr14:22102600C>A	ENST00000542433.1	-	1	496	c.399G>T	c.(397-399)caG>caT	p.Q133H		NM_001005466.1	NP_001005466.1	Q8NGC3	O10G2_HUMAN	olfactory receptor, family 10, subfamily G, member 2	133					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(2)	22	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0142)		AGTGCAGGGGCTGACATATTG	0.552													16	7					2.23348e-06	2.43202e-06	1	1	0	A	22102600	C	A	22102600	3	1	372	1	0	0	0	0	1	0	0	0	10947	796	28	4	536	4	OR10G2	14	22102600	Missense_Mutation	SNP	C	TCGA-P5-A77W-01A-11D-A32B-08		22102600	85246940	31	32384											
C14orf105	55195	broad.mit.edu	37	14	57947418	57947418	+	Missense_Mutation	SNP	T	T	A			TCGA-P5-A77W-01A-11D-A32B-08	TCGA-P5-A77W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d366d4-b18f-44b3-9e4e-fc49e38c5601	5e92215f-5cb4-459d-91fa-0b0026d14be5	g.chr14:57947418T>A	ENST00000216445.3	-	5	686	c.550A>T	c.(550-552)Agt>Tgt	p.S184C	C14orf105_ENST00000422976.2_Missense_Mutation_p.S183C|C14orf105_ENST00000534126.1_Missense_Mutation_p.S183C	NM_001283057.1|NM_018168.2	NP_001269986.1|NP_060638.2	Q9NVL8	CN105_HUMAN	chromosome 14 open reading frame 105	184										breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)	11						TCCCTTGGACTTTGCTTATTA	0.403													10	74					0	0	1	0	0	A	57947418	T	A	57947418	3	1	372	1	0	0	0	0	1	0	0	0	1743	1609	56	5	348	5	C14orf105	14	57947418	Missense_Mutation	SNP	T	TCGA-P5-A77W-01A-11D-A32B-08	35844818	57947418	49402122	32	32385	143	2									
C14orf105	55195	broad.mit.edu	37	14	57947420	57947420	+	Missense_Mutation	SNP	T	T	G			TCGA-P5-A77W-01A-11D-A32B-08	TCGA-P5-A77W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d366d4-b18f-44b3-9e4e-fc49e38c5601	5e92215f-5cb4-459d-91fa-0b0026d14be5	g.chr14:57947420T>G	ENST00000216445.3	-	5	684	c.548A>C	c.(547-549)cAa>cCa	p.Q183P	C14orf105_ENST00000422976.2_Missense_Mutation_p.Q182P|C14orf105_ENST00000534126.1_Missense_Mutation_p.Q182P	NM_001283057.1|NM_018168.2	NP_001269986.1|NP_060638.2	Q9NVL8	CN105_HUMAN	chromosome 14 open reading frame 105	183										breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)	11						CCTTGGACTTTGCTTATTAAT	0.393													10	73					0	0	1	0	0	G	57947420	T	G	57947420	3	3	372	1	0	0	0	0	1	0	0	0	1743	1812	63	5	350	5	C14orf105	14	57947420	Missense_Mutation	SNP	T	TCGA-P5-A77W-01A-11D-A32B-08	2	57947420	49402120	33	32386	143	2									
MAP3K14	9020	broad.mit.edu	37	17	43344891	43344893	+	RNA	DEL	CTC	CTC	-			TCGA-P5-A77W-01A-11D-A32B-08	TCGA-P5-A77W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d366d4-b18f-44b3-9e4e-fc49e38c5601	5e92215f-5cb4-459d-91fa-0b0026d14be5	g.chr17:43344891_43344893delCTC	ENST00000344686.2	-	0	2311_2313				MAP3K14-AS1_ENST00000592422.1_RNA|MAP3K14-AS1_ENST00000588698.1_RNA|MAP3K14-AS1_ENST00000590100.1_RNA|MAP3K14-AS1_ENST00000586450.1_RNA|MAP3K14-AS1_ENST00000585351.1_RNA|MAP3K14-AS1_ENST00000585780.1_RNA|MAP3K14-AS1_ENST00000588504.1_RNA			Q99558	M3K14_HUMAN	mitogen-activated protein kinase kinase kinase 14						cellular response to mechanical stimulus|I-kappaB kinase/NF-kappaB cascade|immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|T cell costimulation	cytosol	ATP binding|MAP kinase kinase kinase activity|NF-kappaB-inducing kinase activity|protein binding			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27						ACATCCCAGACTCCTCCTTGCTC	0.611													7	10	---	---	---	---						-	43344893	CTC	-	43344891	6	5	372	0	1	1	0	1	0	0	0	0	9298	564	20	0		0	MAP3K14	17	43344891	RNA	DEL	CTC	TCGA-P5-A77W-01A-11D-A32B-08		43344891	37850319	34	32387											
KRI1	65095	broad.mit.edu	37	19	10672385	10672385	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A77W-01A-11D-A32B-08	TCGA-P5-A77W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d366d4-b18f-44b3-9e4e-fc49e38c5601	5e92215f-5cb4-459d-91fa-0b0026d14be5	g.chr19:10672385G>A	ENST00000312962.6	-	6	483	c.464C>T	c.(463-465)tCg>tTg	p.S155L	KRI1_ENST00000361821.5_Missense_Mutation_p.S151L|KRI1_ENST00000537964.1_5'UTR	NM_023008.3	NP_075384.3	Q8N9T8	KRI1_HUMAN	KRI1 homolog (S. cerevisiae)	155	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)			ACTTTGCGACGATGTCTCCTG	0.607													6	140					0	0	1	0	0	A	10672385	G	A	10672385	3	1	372	1	0	0	0	0	1	0	0	0	8487	1059	37	1	1721	1	KRI1	19	10672385	Missense_Mutation	SNP	G	TCGA-P5-A77W-01A-11D-A32B-08		10672385	48456598	35	32388											
PLVAP	83483	broad.mit.edu	37	19	17488042	17488042	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A77W-01A-11D-A32B-08	TCGA-P5-A77W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d366d4-b18f-44b3-9e4e-fc49e38c5601	5e92215f-5cb4-459d-91fa-0b0026d14be5	g.chr19:17488042C>T	ENST00000252590.4	-	1	117	c.56G>A	c.(55-57)cGg>cAg	p.R19Q		NM_031310.1	NP_112600.1	Q9BX97	PLVAP_HUMAN	plasmalemma vesicle associated protein	19						caveola|integral to membrane|perinuclear region of cytoplasm				cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CCAGCAGCCCCGAGAGCTGCC	0.622													44	76					0	0	1	0	0	T	17488042	C	T	17488042	3	4	372	1	0	0	0	0	1	0	0	0	12164	652	23	1	1296	1	PLVAP	19	17488042	Missense_Mutation	SNP	C	TCGA-P5-A77W-01A-11D-A32B-08	6815657	17488042	41640941	36	32389											
CIC	23152	broad.mit.edu	37	19	42795197	42795198	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-P5-A77W-01A-11D-A32B-08	TCGA-P5-A77W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d366d4-b18f-44b3-9e4e-fc49e38c5601	5e92215f-5cb4-459d-91fa-0b0026d14be5	g.chr19:42795197_42795198delTG	ENST00000572681.2	+	11	5072_5073	c.5004_5005delTG	c.(5002-5007)actgtcfs	p.V1669fs	CIC_ENST00000575354.2_Frame_Shift_Del_p.V760fs|CIC_ENST00000160740.3_Frame_Shift_Del_p.V760fs			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	760					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CGCCTGCCACTGTCACTAACCT	0.668			"Mis, F, S"		oligodendroglioma								17	17	---	---	---	---						-	42795198	TG	-	42795197	7	5	372	1	0	1	0	1	0	0	0	0	3446	1567	55	0	2315	0	CIC	19	42795197	Frame_Shift_Del	DEL	TG	TCGA-P5-A77W-01A-11D-A32B-08	25307155	42795197	16333786	37	32390											
PKDREJ	10343	broad.mit.edu	37	22	46652877	46652877	+	Nonsense_Mutation	SNP	C	C	A			TCGA-P5-A77W-01A-11D-A32B-08	TCGA-P5-A77W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d366d4-b18f-44b3-9e4e-fc49e38c5601	5e92215f-5cb4-459d-91fa-0b0026d14be5	g.chr22:46652877C>A	ENST00000253255.5	-	1	6342	c.6343G>T	c.(6343-6345)Gaa>Taa	p.E2115*		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	2115					acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		TAGTTCCATTCATGCTGACCA	0.443													3	33					1	1	1	1	0	A	46652877	C	A	46652877	4	1	372	1	0	0	0	0	0	1	0	0	12018	835	29	5	422	5	PKDREJ	22	46652877	Nonsense_Mutation	SNP	C	TCGA-P5-A77W-01A-11D-A32B-08		46652877	4651689	38	32391											
TTLL8	164714	broad.mit.edu	37	22	50484310	50484310	+	Silent	SNP	G	G	A			TCGA-P5-A77W-01A-11D-A32B-08	TCGA-P5-A77W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d366d4-b18f-44b3-9e4e-fc49e38c5601	5e92215f-5cb4-459d-91fa-0b0026d14be5	g.chr22:50484310G>A	ENST00000266182.6	-	5	482	c.483C>T	c.(481-483)acC>acT	p.T161T	TTLL8_ENST00000440475.1_Silent_p.T161T					tubulin tyrosine ligase-like family, member 8											NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(4)	12		all_cancers(38;3.44e-07)|all_epithelial(38;2.44e-06)|all_lung(38;0.00141)|Breast(42;0.00519)|Lung NSC(38;0.0199)|Ovarian(80;0.142)|Lung SC(80;0.162)		READ - Rectum adenocarcinoma(2;0.000882)|Colorectal(2;0.00311)|BRCA - Breast invasive adenocarcinoma(115;0.226)		GCTCACTCTCGGTGCAGAGGC	0.617													4	9					0	0	1	0	0	A	50484310	G	A	50484310	2	1	372	1	0	0	0	0	0	0	0	1	16795	1103	39	1		1	TTLL8	22	50484310	Silent	SNP	G	TCGA-P5-A77W-01A-11D-A32B-08	3831433	50484310	820256	39	32392											
PHKA2	5256	broad.mit.edu	37	X	18936876	18936876	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A77W-01A-11D-A32B-08	TCGA-P5-A77W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d366d4-b18f-44b3-9e4e-fc49e38c5601	5e92215f-5cb4-459d-91fa-0b0026d14be5	g.chrX:18936876C>T	ENST00000379942.4	-	19	2725	c.2060G>A	c.(2059-2061)cGc>cAc	p.R687H		NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	687					glucose metabolic process|glycogen catabolic process	cytosol|phosphorylase kinase complex|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61	Hepatocellular(33;0.183)					GAAGACATGGCGGTCTTCTGT	0.448													43	76					0	0	1	0	0	T	18936876	C	T	18936876	3	4	372	1	0	0	0	0	1	0	0	0	11892	768	27	1	1707	1	PHKA2	23	18936876	Missense_Mutation	SNP	C	TCGA-P5-A77W-01A-11D-A32B-08		18936876	136333684	40	32393											
CXorf38	159013	broad.mit.edu	37	X	40495933	40495933	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A77W-01A-11D-A32B-08	TCGA-P5-A77W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d366d4-b18f-44b3-9e4e-fc49e38c5601	5e92215f-5cb4-459d-91fa-0b0026d14be5	g.chrX:40495933G>A	ENST00000378426.1	-	4	893	c.296C>T	c.(295-297)cCc>cTc	p.P99L	CXorf38_ENST00000440784.2_Missense_Mutation_p.P133L|CXorf38_ENST00000327877.5_Missense_Mutation_p.P218L|CXorf38_ENST00000378421.1_Missense_Mutation_p.P99L			Q8TB03	CX038_HUMAN	chromosome X open reading frame 38	218										NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	12						ATCTTCCTCGGGGATGTGAAC	0.423													9	13					0	0	1	0	0	A	40495933	G	A	40495933	3	1	372	1	0	0	0	0	1	0	0	0	4130	1232	43	2	314	2	CXorf38	23	40495933	Missense_Mutation	SNP	G	TCGA-P5-A77W-01A-11D-A32B-08	21559057	40495933	114774627	41	32394											
ARMCX2	9823	broad.mit.edu	37	X	100910841	100910844	+	Frame_Shift_Del	DEL	ATAG	ATAG	-			TCGA-P5-A77W-01A-11D-A32B-08	TCGA-P5-A77W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d366d4-b18f-44b3-9e4e-fc49e38c5601	5e92215f-5cb4-459d-91fa-0b0026d14be5	g.chrX:100910841_100910844delATAG	ENST00000328766.5	-	5	2184_2187	c.1731_1734delCTAT	c.(1729-1734)atctatfs	p.IY577fs	ARMCX2_ENST00000330154.2_Frame_Shift_Del_p.IY577fs|ARMCX2_ENST00000356824.4_Frame_Shift_Del_p.IY577fs	NM_014782.5	NP_055597.1	Q7L311	ARMX2_HUMAN	armadillo repeat containing, X-linked 2	577						integral to membrane	binding			NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(6)|prostate(1)|skin(1)	29						TGAGATTGTCATAGATAATCTCAA	0.348													9	108	---	---	---	---						-	100910844	ATAG	-	100910841	7	5	372	1	0	1	0	1	0	0	0	0	959	224	8	0	168	0	ARMCX2	23	100910841	Frame_Shift_Del	DEL	ATAG	TCGA-P5-A77W-01A-11D-A32B-08	60414908	100910841	54359719	42	32395											
DOCK11	139818	broad.mit.edu	37	X	117744241	117744241	+	Nonsense_Mutation	SNP	C	C	T			TCGA-P5-A77W-01A-11D-A32B-08	TCGA-P5-A77W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d366d4-b18f-44b3-9e4e-fc49e38c5601	5e92215f-5cb4-459d-91fa-0b0026d14be5	g.chrX:117744241C>T	ENST00000276204.6	+	28	3030	c.2956C>T	c.(2956-2958)Cga>Tga	p.R986*	DOCK11_ENST00000276202.7_Nonsense_Mutation_p.R986*			Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	986					blood coagulation	cytosol	GTP binding			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						TCAGCTTCCCCGAGGCCAGAG	0.383													35	49					0	0	1	0	0	T	117744241	C	T	117744241	4	4	372	1	0	0	0	0	0	1	0	0	4713	644	23	1	3066	1	DOCK11	23	117744241	Nonsense_Mutation	SNP	C	TCGA-P5-A77W-01A-11D-A32B-08	16833400	117744241	37526319	43	32396											
BGN	633	broad.mit.edu	37	X	152773797	152773797	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A77W-01A-11D-A32B-08	TCGA-P5-A77W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d366d4-b18f-44b3-9e4e-fc49e38c5601	5e92215f-5cb4-459d-91fa-0b0026d14be5	g.chrX:152773797G>A	ENST00000331595.4	+	8	1187	c.1001G>A	c.(1000-1002)gGc>gAc	p.G334D	BGN_ENST00000480756.1_3'UTR	NM_001711.4	NP_001702.1	P21810	PGS1_HUMAN	biglycan	334						proteinaceous extracellular matrix|transport vesicle	extracellular matrix structural constituent			breast(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)	16	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TACTACAACGGCATCAGCCTC	0.577													4	173					0	0	1	0	0	A	152773797	G	A	152773797	3	1	372	1	0	0	0	0	1	0	0	0	1417	1203	42	2	1027	2	BGN	23	152773797	Missense_Mutation	SNP	G	TCGA-P5-A77W-01A-11D-A32B-08	35029556	152773797	2496763	44	32397											
FUBP1	8880	broad.mit.edu	37	1	78433848	78433851	+	Splice_Site	DEL	CAGT	CAGT	-			TCGA-P5-A77X-01A-11D-A32B-08	TCGA-P5-A77X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1b13a0-7298-4022-915f-dd2acdfd704f	6fb29fc2-6fba-49f9-ba3f-4404eb6eea1b	g.chr1:78433848_78433851delCAGT	ENST00000370767.1	-	3	335_338	c.248_251delACTG	c.(247-252)gactgt>gt	p.DC83fs	FUBP1_ENST00000370768.2_Splice_Site_p.DC83fs|FUBP1_ENST00000436586.2_Splice_Site_p.DC104fs			Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1	83					transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding	p.?(1)		central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						GGAATACTTACAGTCATTTTGAGG	0.319			"F, N"		oligodendroglioma								16	16	---	---	---	---						-	78433851	CAGT	-	78433848	8	5	373	1	0	1	0	1	0	0	1	0	6127	492	17	0	1755	0	FUBP1	1	78433848	Splice_Site	DEL	CAGT	TCGA-P5-A77X-01A-11D-A32B-08		78433848	170816773	1	32398											
ODF2L	57489	broad.mit.edu	37	1	86826179	86826179	+	Missense_Mutation	SNP	T	T	C			TCGA-P5-A77X-01A-11D-A32B-08	TCGA-P5-A77X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1b13a0-7298-4022-915f-dd2acdfd704f	6fb29fc2-6fba-49f9-ba3f-4404eb6eea1b	g.chr1:86826179T>C	ENST00000359242.3	-	12	1465	c.1184A>G	c.(1183-1185)gAa>gGa	p.E395G	ODF2L_ENST00000317336.7_Missense_Mutation_p.E395G|ODF2L_ENST00000370566.3_Missense_Mutation_p.E366G|ODF2L_ENST00000394731.1_Missense_Mutation_p.E235G|ODF2L_ENST00000524695.1_5'UTR|ODF2L_ENST00000294678.2_Missense_Mutation_p.E366G|ODF2L_ENST00000370567.1_Missense_Mutation_p.E366G	NM_001007022.2	NP_001007023.2	Q9ULJ1	ODF2L_HUMAN	outer dense fiber of sperm tails 2-like	395						centrosome				endometrium(2)|kidney(2)|large_intestine(10)|lung(6)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	24				all cancers(265;0.0313)|Epithelial(280;0.0611)		GAGTTCATTTTCAACAGATAC	0.303													13	16					0	0	1	0	0	C	86826179	T	C	86826179	3	2	373	1	0	0	0	0	1	0	0	0	10876	1783	62	3	930	3	ODF2L	1	86826179	Missense_Mutation	SNP	T	TCGA-P5-A77X-01A-11D-A32B-08	8392331	86826179	162424442	2	32399											
CFHR5	81494	broad.mit.edu	37	1	196973838	196973838	+	Missense_Mutation	SNP	A	A	G			TCGA-P5-A77X-01A-11D-A32B-08	TCGA-P5-A77X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1b13a0-7298-4022-915f-dd2acdfd704f	6fb29fc2-6fba-49f9-ba3f-4404eb6eea1b	g.chr1:196973838A>G	ENST00000367414.5	+	9	1506	c.1450A>G	c.(1450-1452)Acc>Gcc	p.T484A	CFHR5_ENST00000256785.4_Missense_Mutation_p.T460A	NM_030787.3	NP_110414.1	Q9BXR6	FHR5_HUMAN	complement factor H-related 5	460	Sushi 8.				complement activation, alternative pathway	extracellular region				NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						CAATGGAGATACCACCTCATT	0.408													35	63					0	0	1	0	0	G	196973838	A	G	196973838	3	3	373	1	0	0	0	0	1	0	0	0	3310	391	14	3	1412	3	CFHR5	1	196973838	Missense_Mutation	SNP	A	TCGA-P5-A77X-01A-11D-A32B-08	110147659	196973838	52276783	3	32400											
OR2M3	127062	broad.mit.edu	37	1	248366669	248366669	+	Silent	SNP	A	A	G			TCGA-P5-A77X-01A-11D-A32B-08	TCGA-P5-A77X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1b13a0-7298-4022-915f-dd2acdfd704f	6fb29fc2-6fba-49f9-ba3f-4404eb6eea1b	g.chr1:248366669A>G	ENST00000456743.1	+	1	338	c.300A>G	c.(298-300)caA>caG	p.Q100Q		NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M, member 3	100					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			GTGCCACACAAATTTTCTTCT	0.488													35	290					0	0	1	0	0	G	248366669	A	G	248366669	2	3	373	1	0	0	0	0	0	0	0	1	11059	11	1	3		3	OR2M3	1	248366669	Silent	SNP	A	TCGA-P5-A77X-01A-11D-A32B-08	51392831	248366669	883952	4	32401											
SLC30A6	55676	broad.mit.edu	37	2	32445757	32445757	+	Missense_Mutation	SNP	A	A	G			TCGA-P5-A77X-01A-11D-A32B-08	TCGA-P5-A77X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1b13a0-7298-4022-915f-dd2acdfd704f	6fb29fc2-6fba-49f9-ba3f-4404eb6eea1b	g.chr2:32445757A>G	ENST00000282587.5	+	14	1398	c.1361A>G	c.(1360-1362)aAt>aGt	p.N454S	SLC30A6_ENST00000406369.1_Missense_Mutation_p.N380S|SLC30A6_ENST00000379343.2_Missense_Mutation_p.N494S|SLC30A6_ENST00000538303.1_Missense_Mutation_p.N425S|SLC30A6_ENST00000357055.3_Missense_Mutation_p.N257S|SLC30A6_ENST00000435660.1_Missense_Mutation_p.N431S	NM_017964.3	NP_060434.2	Q6NXT4	ZNT6_HUMAN	solute carrier family 30 (zinc transporter), member 6	454				N -> S (in Ref. 4; AAH66903).		Golgi membrane|integral to membrane	zinc ion transmembrane transporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(4)|lung(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					GGAACTAATAATAGAATTGGA	0.353													5	48					0	0	1	0	0	G	32445757	A	G	32445757	3	3	373	1	0	0	0	0	1	0	0	0	14614	101	4	3	1415	3	SLC30A6	2	32445757	Missense_Mutation	SNP	A	TCGA-P5-A77X-01A-11D-A32B-08		32445757	210753616	5	32402											
LRP2	4036	broad.mit.edu	37	2	170027173	170027173	+	Silent	SNP	G	G	A			TCGA-P5-A77X-01A-11D-A32B-08	TCGA-P5-A77X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1b13a0-7298-4022-915f-dd2acdfd704f	6fb29fc2-6fba-49f9-ba3f-4404eb6eea1b	g.chr2:170027173G>A	ENST00000263816.3	-	59	11553	c.11268C>T	c.(11266-11268)ccC>ccT	p.P3756P		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	3756	LDL-receptor class A 31.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	TGCACTCCCGGGGAGCTGGAA	0.552													29	38					0	0	1	0	0	A	170027173	G	A	170027173	2	1	373	1	0	0	0	0	0	0	0	1	9001	1219	43	2		2	LRP2	2	170027173	Silent	SNP	G	TCGA-P5-A77X-01A-11D-A32B-08	137581416	170027173	73172200	6	32403											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-P5-A77X-01A-11D-A32B-08	TCGA-P5-A77X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1b13a0-7298-4022-915f-dd2acdfd704f	6fb29fc2-6fba-49f9-ba3f-4404eb6eea1b	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	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								17	37					0	0	1	0	0	T	209113112	C	T	209113112	3	4	373	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-P5-A77X-01A-11D-A32B-08	39085939	209113112	34086261	7	32404											
EXOG	9941	broad.mit.edu	37	3	38548446	38548449	+	Frame_Shift_Del	DEL	TAGT	TAGT	-			TCGA-P5-A77X-01A-11D-A32B-08	TCGA-P5-A77X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1b13a0-7298-4022-915f-dd2acdfd704f	6fb29fc2-6fba-49f9-ba3f-4404eb6eea1b	g.chr3:38548446_38548449delTAGT	ENST00000287675.5	+	5	728_731	c.632_635delTAGT	c.(631-636)atagttfs	p.IV211fs	EXOG_ENST00000422077.2_Frame_Shift_Del_p.IV161fs|EXOG_ENST00000358249.2_Frame_Shift_Del_p.IV71fs	NM_005107.3	NP_005098.2	Q9Y2C4	EXOG_HUMAN	endo/exonuclease (5'-3'), endonuclease G-like	211						mitochondrial inner membrane	endonuclease activity|metal ion binding|nucleic acid binding			central_nervous_system(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	17						GGAAAGAAAATAGTTAGTTACCAG	0.353													11	46	---	---	---	---						-	38548449	TAGT	-	38548446	7	5	373	1	0	1	0	1	0	0	0	0	5339	1406	49	0	650	0	EXOG	3	38548446	Frame_Shift_Del	DEL	TAGT	TCGA-P5-A77X-01A-11D-A32B-08		38548446	159473984	8	32405											
UPK1B	7348	broad.mit.edu	37	3	118909856	118909856	+	Missense_Mutation	SNP	A	A	G	rs147312682		TCGA-P5-A77X-01A-11D-A32B-08	TCGA-P5-A77X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1b13a0-7298-4022-915f-dd2acdfd704f	6fb29fc2-6fba-49f9-ba3f-4404eb6eea1b	g.chr3:118909856A>G	ENST00000264234.3	+	5	522	c.373A>G	c.(373-375)Atg>Gtg	p.M125V	UPK1B_ENST00000497685.1_Missense_Mutation_p.M45V|UPK1B_ENST00000460625.1_Missense_Mutation_p.M117V	NM_006952.3	NP_008883.2	O75841	UPK1B_HUMAN	uroplakin 1B	125					epithelial cell differentiation	integral to membrane	structural molecule activity			breast(1)|endometrium(3)|large_intestine(2)|lung(6)|pancreas(1)|skin(1)	14				GBM - Glioblastoma multiforme(114;0.222)		CCTGAAGCAGATGCTAGAGAG	0.453													13	405					0	0	1	0	0	G	118909856	A	G	118909856	3	3	373	1	0	0	0	0	1	0	0	0	17068	333	12	3	387	3	UPK1B	3	118909856	Missense_Mutation	SNP	A	TCGA-P5-A77X-01A-11D-A32B-08	80361410	118909856	79112574	9	32406											
KCNAB1	7881	broad.mit.edu	37	3	155860969	155860969	+	Translation_Start_Site	SNP	T	T	C			TCGA-P5-A77X-01A-11D-A32B-08	TCGA-P5-A77X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1b13a0-7298-4022-915f-dd2acdfd704f	6fb29fc2-6fba-49f9-ba3f-4404eb6eea1b	g.chr3:155860969T>C	ENST00000471742.1	+	1	219	c.2T>C	c.(1-3)aTg>aCg	p.M1T	KCNAB1_ENST00000389636.5_Intron|KCNAB1_ENST00000490337.1_Intron	NM_003471.3	NP_003462.2	Q14722	KCAB1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, beta member 1	0						cytoplasm|integral to membrane	oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			TTTTGAAACATGCATCTGTAT	0.458													9	16					0	0	1	0	0	C	155860969	T	C	155860969	1	2	373	1	0	0	0	0	0	0	0	0	8053	1464	51	3		3	KCNAB1	3	155860969	Translation_Start_Site	SNP	T	TCGA-P5-A77X-01A-11D-A32B-08	36951113	155860969	42161461	10	32407											
CTBP1	1487	broad.mit.edu	37	4	1206203	1206203	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A77X-01A-11D-A32B-08	TCGA-P5-A77X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1b13a0-7298-4022-915f-dd2acdfd704f	6fb29fc2-6fba-49f9-ba3f-4404eb6eea1b	g.chr4:1206203G>A	ENST00000382952.3	-	10	1499	c.1115C>T	c.(1114-1116)cCg>cTg	p.P372L	CTBP1_ENST00000290921.6_Missense_Mutation_p.P383L	NM_001012614.1	NP_001012632.1	Q13363	CTBP1_HUMAN	C-terminal binding protein 1	383					interspecies interaction between organisms|negative regulation of cell proliferation|negative regulation of histone H4 acetylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of histone deacetylation|protein phosphorylation|regulation of cell cycle|regulation of transcription by chromatin organization|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|viral genome replication|white fat cell differentiation	cytoplasm|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein C-terminus binding|protein domain specific binding|transcription factor binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|urinary_tract(1)	8			OV - Ovarian serous cystadenocarcinoma(23;0.00818)	Colorectal(103;0.2)		CACCACGCCCGGAGGGTACCT	0.721													4	2					0	0	1	0	0	A	1206203	G	A	1206203	3	1	373	1	0	0	0	0	1	0	0	0	4021	1116	39	1	178	1	CTBP1	4	1206203	Missense_Mutation	SNP	G	TCGA-P5-A77X-01A-11D-A32B-08		1206203	189948073	11	32408											
SORCS2	57537	broad.mit.edu	37	4	7533275	7533275	+	Silent	SNP	G	G	A			TCGA-P5-A77X-01A-11D-A32B-08	TCGA-P5-A77X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1b13a0-7298-4022-915f-dd2acdfd704f	6fb29fc2-6fba-49f9-ba3f-4404eb6eea1b	g.chr4:7533275G>A	ENST00000507866.2	+	3	676	c.567G>A	c.(565-567)acG>acA	p.T189T	SORCS2_ENST00000511199.1_3'UTR|SORCS2_ENST00000329016.9_Silent_p.T17T	NM_020777.2	NP_065828.2	Q96PQ0	SORC2_HUMAN	sortilin-related VPS10 domain containing receptor 2	189						integral to membrane	neuropeptide receptor activity	p.T39T(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	42						ATTTCGGGACGTCCTACACCA	0.602													7	13					0	0	1	0	0	A	7533275	G	A	7533275	2	1	373	1	0	0	0	0	0	0	0	1	14985	1132	40	1		1	SORCS2	4	7533275	Silent	SNP	G	TCGA-P5-A77X-01A-11D-A32B-08	6327072	7533275	183621001	12	32409											
CPZ	8532	broad.mit.edu	37	4	8616093	8616093	+	Silent	SNP	C	C	T			TCGA-P5-A77X-01A-11D-A32B-08	TCGA-P5-A77X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1b13a0-7298-4022-915f-dd2acdfd704f	6fb29fc2-6fba-49f9-ba3f-4404eb6eea1b	g.chr4:8616093C>T	ENST00000429646.2	+	7	2988	c.195C>T	c.(193-195)tcC>tcT	p.S65S	CPZ_ENST00000360986.4_Silent_p.S457S|CPZ_ENST00000382480.2_Silent_p.S320S|CPZ_ENST00000315782.6_Silent_p.S446S			Q66K79	CBPZ_HUMAN	carboxypeptidase Z	457	FZ.				proteolysis|Wnt receptor signaling pathway	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						CAGGCATGTCCGATTTCAACT	0.612													33	29					0	0	1	0	0	T	8616093	C	T	8616093	2	4	373	1	0	0	0	0	0	0	0	1	3862	639	23	1		1	CPZ	4	8616093	Silent	SNP	C	TCGA-P5-A77X-01A-11D-A32B-08	1082818	8616093	182538183	13	32410											
ZNF518B	85460	broad.mit.edu	37	4	10445618	10445618	+	Missense_Mutation	SNP	T	T	C			TCGA-P5-A77X-01A-11D-A32B-08	TCGA-P5-A77X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1b13a0-7298-4022-915f-dd2acdfd704f	6fb29fc2-6fba-49f9-ba3f-4404eb6eea1b	g.chr4:10445618T>C	ENST00000326756.3	-	3	2773	c.2335A>G	c.(2335-2337)Agg>Ggg	p.R779G		NM_053042.2	NP_444270.2	Q9C0D4	Z518B_HUMAN	zinc finger protein 518B	779					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						TTAAGAACCCTCAACACAGCC	0.473													20	45					0	0	1	0	0	C	10445618	T	C	10445618	3	2	373	1	0	0	0	0	1	0	0	0	18020	1550	54	3	893	3	ZNF518B	4	10445618	Missense_Mutation	SNP	T	TCGA-P5-A77X-01A-11D-A32B-08	1829525	10445618	180708658	14	32411											
KDR	3791	broad.mit.edu	37	4	55984889	55984889	+	Silent	SNP	G	G	A	rs141577956	by1000genomes	TCGA-P5-A77X-01A-11D-A32B-08	TCGA-P5-A77X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1b13a0-7298-4022-915f-dd2acdfd704f	6fb29fc2-6fba-49f9-ba3f-4404eb6eea1b	g.chr4:55984889G>A	ENST00000263923.4	-	3	535	c.240C>T	c.(238-240)agC>agT	p.S80S		NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	80	Ig-like C2-type 1.				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	AGAGGCCATCGCTGCACTCAG	0.502			Mis		"NSCLC, angiosarcoma"					TSP Lung(20;0.16)			11	49					0	0	1	0	0	A	55984889	G	A	55984889	2	1	373	1	0	0	0	0	0	0	0	1	8182	1078	38	1		1	KDR	4	55984889	Silent	SNP	G	TCGA-P5-A77X-01A-11D-A32B-08	45539271	55984889	135169387	15	32412											
NEK1	4750	broad.mit.edu	37	4	170476964	170476964	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A77X-01A-11D-A32B-08	TCGA-P5-A77X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1b13a0-7298-4022-915f-dd2acdfd704f	6fb29fc2-6fba-49f9-ba3f-4404eb6eea1b	g.chr4:170476964C>T	ENST00000439128.2	-	17	2109	c.1469G>A	c.(1468-1470)gGg>gAg	p.G490E	NEK1_ENST00000511633.1_Intron|NEK1_ENST00000512193.1_Intron|NEK1_ENST00000507142.1_Missense_Mutation_p.G490E|NEK1_ENST00000510533.1_Intron	NM_012224.2	NP_036356.1	Q96PY6	NEK1_HUMAN	NIMA-related kinase 1	490					cell division|cilium assembly|mitosis	nucleus|pericentriolar material	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|stomach(1)	45		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)|KIRC - Kidney renal clear cell carcinoma(143;0.0325)|Kidney(143;0.0385)|LUSC - Lung squamous cell carcinoma(193;0.14)		ACCTGCAGCCCCATAAGGAAA	0.413													21	47					0	0	1	0	0	T	170476964	C	T	170476964	3	4	373	1	0	0	0	0	1	0	0	0	10368	623	22	2	2379	2	NEK1	4	170476964	Missense_Mutation	SNP	C	TCGA-P5-A77X-01A-11D-A32B-08	114492075	170476964	20677312	16	32413											
C5orf42	65250	broad.mit.edu	37	5	37154027	37154030	+	Frame_Shift_Del	DEL	ATAG	ATAG	-			TCGA-P5-A77X-01A-11D-A32B-08	TCGA-P5-A77X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1b13a0-7298-4022-915f-dd2acdfd704f	6fb29fc2-6fba-49f9-ba3f-4404eb6eea1b	g.chr5:37154027_37154030delATAG	ENST00000274258.7	-	41	8304_8307	c.4717_4720delCTAT	c.(4717-4722)ctattgfs	p.LL1573fs	C5orf42_ENST00000508244.1_Frame_Shift_Del_p.LL2675fs|C5orf42_ENST00000425232.2_Frame_Shift_Del_p.LL2675fs			E9PH94	E9PH94_HUMAN	chromosome 5 open reading frame 42	2675										breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			CGTTTCCACAATAGATAATCTTCT	0.431													23	53	---	---	---	---						-	37154030	ATAG	-	37154027	7	5	373	1	0	1	0	1	0	0	0	0	2316	98	4	0	1615	0	C5orf42	5	37154027	Frame_Shift_Del	DEL	ATAG	TCGA-P5-A77X-01A-11D-A32B-08		37154027	143761233	17	32414											
ATP10B	23120	broad.mit.edu	37	5	160061405	160061405	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A77X-01A-11D-A32B-08	TCGA-P5-A77X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1b13a0-7298-4022-915f-dd2acdfd704f	6fb29fc2-6fba-49f9-ba3f-4404eb6eea1b	g.chr5:160061405C>T	ENST00000327245.5	-	12	2183	c.1337G>A	c.(1336-1338)cGa>cAa	p.R446Q	CTC-348L5.1_ENST00000523598.1_RNA	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	446					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GGTGCAACGTCGGAACACCAT	0.502													24	78					0	0	1	0	0	T	160061405	C	T	160061405	3	4	373	1	0	0	0	0	1	0	0	0	1116	884	31	1	3108	1	ATP10B	5	160061405	Missense_Mutation	SNP	C	TCGA-P5-A77X-01A-11D-A32B-08	122907378	160061405	20853855	18	32415											
ADAT2	134637	broad.mit.edu	37	6	143771733	143771735	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-P5-A77X-01A-11D-A32B-08	TCGA-P5-A77X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1b13a0-7298-4022-915f-dd2acdfd704f	6fb29fc2-6fba-49f9-ba3f-4404eb6eea1b	g.chr6:143771733_143771735delCTC	ENST00000237283.8	-	1	75_77	c.61_63delGAG	c.(61-63)gagdel	p.E21del	ADAT2_ENST00000367593.1_5'UTR	NM_182503.2	NP_872309.2	Q7Z6V5	ADAT2_HUMAN	adenosine deaminase, tRNA-specific 2	21					tRNA processing		hydrolase activity|zinc ion binding			endometrium(2)|large_intestine(3)|lung(3)	8				OV - Ovarian serous cystadenocarcinoma(155;5.61e-06)|GBM - Glioblastoma multiforme(68;0.0115)		ACTTTTCGGTCTCCTCTGCCGAC	0.665													43	177	---	---	---	---						-	143771735	CTC	-	143771733	7	5	373	1	0	1	0	1	0	0	0	0	284	912	32	0	536	0	ADAT2	6	143771733	In_Frame_Del	DEL	CTC	TCGA-P5-A77X-01A-11D-A32B-08		143771733	27343334	19	32416											
LATS1	9113	broad.mit.edu	37	6	150001374	150001376	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-P5-A77X-01A-11D-A32B-08	TCGA-P5-A77X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1b13a0-7298-4022-915f-dd2acdfd704f	6fb29fc2-6fba-49f9-ba3f-4404eb6eea1b	g.chr6:150001374_150001376delGAA	ENST00000543571.1	-	5	2775_2777	c.2228_2230delTTC	c.(2227-2232)cttcga>cga	p.L743del	LATS1_ENST00000542747.1_5'UTR|LATS1_ENST00000253339.5_In_Frame_Del_p.L743del	NM_004690.3	NP_004681.1	O95835	LATS1_HUMAN	large tumor suppressor kinase 1	743	Protein kinase.				cell division|cytoplasmic sequestering of protein|G2/M transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|positive regulation of peptidyl-serine phosphorylation|regulation of actin filament polymerization|sister chromatid segregation	microtubule organizing center|spindle pole	ATP binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity			central_nervous_system(1)|lung(5)	6		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)		ACTTGATTTCGAAGAAGAACATC	0.384													23	112	---	---	---	---						-	150001376	GAA	-	150001374	7	5	373	1	0	1	0	1	0	0	0	0	8685	1066	37	0	1178	0	LATS1	6	150001374	In_Frame_Del	DEL	GAA	TCGA-P5-A77X-01A-11D-A32B-08	6229641	150001374	21113693	20	32417											
PSMA2	5683	broad.mit.edu	37	7	42966160	42966160	+	Missense_Mutation	SNP	A	A	G			TCGA-P5-A77X-01A-11D-A32B-08	TCGA-P5-A77X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1b13a0-7298-4022-915f-dd2acdfd704f	6fb29fc2-6fba-49f9-ba3f-4404eb6eea1b	g.chr7:42966160A>G	ENST00000442788.1	-	3	241	c.226T>C	c.(226-228)Tac>Cac	p.Y76H	PSMA2_ENST00000445517.1_Intron|PSMA2_ENST00000223321.4_Missense_Mutation_p.Y76H|PSMA2_ENST00000538645.1_5'UTR			P25787	PSA2_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 2	76					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|response to virus|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex, alpha-subunit complex	protein binding|threonine-type endopeptidase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(2)	10						ATGCCACTGTACACCAAACCT	0.373													3	45					0	0	1	0	0	G	42966160	A	G	42966160	3	3	373	1	0	0	0	0	1	0	0	0	12716	391	14	3	502	3	PSMA2	7	42966160	Missense_Mutation	SNP	A	TCGA-P5-A77X-01A-11D-A32B-08		42966160	116172503	21	32418											
FAM84B	157638	broad.mit.edu	37	8	127568724	127568726	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-P5-A77X-01A-11D-A32B-08	TCGA-P5-A77X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1b13a0-7298-4022-915f-dd2acdfd704f	6fb29fc2-6fba-49f9-ba3f-4404eb6eea1b	g.chr8:127568724_127568726delTCC	ENST00000304916.3	-	2	1364_1366	c.909_911delGGA	c.(907-912)gaggac>gac	p.E303del		NM_174911.4	NP_777571.1	Q96KN1	FA84B_HUMAN	family with sequence similarity 84, member B	303						cytoplasm|plasma membrane	protein binding			lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	5	Ovarian(5;9.43e-05)|Esophageal squamous(12;0.0012)|Hepatocellular(40;0.128)|Myeloproliferative disorder(2;0.135)		STAD - Stomach adenocarcinoma(47;0.000556)|Colorectal(2;0.0102)|Lung(2;0.0136)|READ - Rectum adenocarcinoma(2;0.0723)			TGCCTCTCCGTCCTCCTCCTCGG	0.7													2	4	---	---	---	---						-	127568726	TCC	-	127568724	7	5	373	1	0	1	0	1	0	0	0	0	5674	1667	58	0	25	0	FAM84B	8	127568724	In_Frame_Del	DEL	TCC	TCGA-P5-A77X-01A-11D-A32B-08		127568724	18795298	22	32419											
PRUNE2	158471	broad.mit.edu	37	9	79322596	79322596	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A77X-01A-11D-A32B-08	TCGA-P5-A77X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1b13a0-7298-4022-915f-dd2acdfd704f	6fb29fc2-6fba-49f9-ba3f-4404eb6eea1b	g.chr9:79322596C>T	ENST00000428286.1	-	8	4717	c.3517G>A	c.(3517-3519)Gac>Aac	p.D1173N	PRUNE2_ENST00000376718.3_Missense_Mutation_p.D1532N			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	1532					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						GTATCTCTGTCAAAATTTCCA	0.448													4	11					0	0	1	0	0	T	79322596	C	T	79322596	3	4	373	1	0	0	0	0	1	0	0	0	12690	826	29	2	4720	2	PRUNE2	9	79322596	Missense_Mutation	SNP	C	TCGA-P5-A77X-01A-11D-A32B-08		79322596	61890835	23	32420											
WDR31	114987	broad.mit.edu	37	9	116080790	116080790	+	Missense_Mutation	SNP	T	T	A			TCGA-P5-A77X-01A-11D-A32B-08	TCGA-P5-A77X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1b13a0-7298-4022-915f-dd2acdfd704f	6fb29fc2-6fba-49f9-ba3f-4404eb6eea1b	g.chr9:116080790T>A	ENST00000374193.4	-	10	1154	c.908A>T	c.(907-909)gAt>gTt	p.D303V	WDR31_ENST00000374195.3_Missense_Mutation_p.D178V|WDR31_ENST00000341761.4_Missense_Mutation_p.D302V|WDR31_ENST00000461942.1_5'UTR	NM_001012361.2|NM_145241.3	NP_001012361.1|NP_660284.1	Q8NA23	WDR31_HUMAN	WD repeat domain 31	303										NS(1)|large_intestine(1)|lung(2)|prostate(2)	6						CACCTTGCAATCATGTGATGA	0.423													16	73					0	0	1	0	0	A	116080790	T	A	116080790	3	1	373	1	0	0	0	0	1	0	0	0	17346	1435	50	4	203	4	WDR31	9	116080790	Missense_Mutation	SNP	T	TCGA-P5-A77X-01A-11D-A32B-08	36758194	116080790	25132641	24	32421											
RET	5979	broad.mit.edu	37	10	43619143	43619143	+	Nonsense_Mutation	SNP	G	G	A			TCGA-P5-A77X-01A-11D-A32B-08	TCGA-P5-A77X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1b13a0-7298-4022-915f-dd2acdfd704f	6fb29fc2-6fba-49f9-ba3f-4404eb6eea1b	g.chr10:43619143G>A	ENST00000355710.3	+	17	3058	c.2826G>A	c.(2824-2826)tgG>tgA	p.W942*	RET_ENST00000340058.5_Nonsense_Mutation_p.W942*	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	942	Protein kinase.				homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Sunitinib(DB01268)	TCCTGCTGTGGGAGATCGTGA	0.602		1	"T, Mis, N, F"	"H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"	"medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"	"medullary thyroid,  papillary thyroid, pheochromocytoma"	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma				4	170					0	0	1	0	0	A	43619143	G	A	43619143	4	1	373	1	0	0	0	0	0	1	0	0	13287	1241	43	2	2892	2	RET	10	43619143	Nonsense_Mutation	SNP	G	TCGA-P5-A77X-01A-11D-A32B-08		43619143	91915604	25	32422											
SYNPO2L	79933	broad.mit.edu	37	10	75406859	75406859	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A77X-01A-11D-A32B-08	TCGA-P5-A77X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1b13a0-7298-4022-915f-dd2acdfd704f	6fb29fc2-6fba-49f9-ba3f-4404eb6eea1b	g.chr10:75406859G>A	ENST00000394810.2	-	4	2700	c.2551C>T	c.(2551-2553)Cgg>Tgg	p.R851W	SYNPO2L_ENST00000372873.4_Missense_Mutation_p.R627W	NM_001114133.1	NP_001107605.1	Q9H987	SYP2L_HUMAN	synaptopodin 2-like	851	Pro-rich.					cytoplasm|cytoskeleton	actin binding	p.R627W(2)|p.R851W(1)		breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Prostate(51;0.0112)					GGCTGATGCCGCATAAAATCT	0.577													4	122					0	0	1	0	0	A	75406859	G	A	75406859	3	1	373	1	0	0	0	0	1	0	0	0	15515	1086	38	1	386	1	SYNPO2L	10	75406859	Missense_Mutation	SNP	G	TCGA-P5-A77X-01A-11D-A32B-08	31787716	75406859	60127888	26	32423											
TMEM86A	144110	broad.mit.edu	37	11	18723300	18723300	+	Missense_Mutation	SNP	T	T	G			TCGA-P5-A77X-01A-11D-A32B-08	TCGA-P5-A77X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1b13a0-7298-4022-915f-dd2acdfd704f	6fb29fc2-6fba-49f9-ba3f-4404eb6eea1b	g.chr11:18723300T>G	ENST00000280734.2	+	3	563	c.467T>G	c.(466-468)tTc>tGc	p.F156C		NM_153347.1	NP_699178.1	Q8N2M4	TM86A_HUMAN	transmembrane protein 86A	156						integral to membrane				endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|skin(2)	11						CTTATCGGCTTCATGGGCTGG	0.627													13	19					0	0	1	0	0	G	18723300	T	G	18723300	3	3	373	1	0	0	0	0	1	0	0	0	16268	1783	62	5	477	5	TMEM86A	11	18723300	Missense_Mutation	SNP	T	TCGA-P5-A77X-01A-11D-A32B-08		18723300	116283216	27	32424											
PRPF19	27339	broad.mit.edu	37	11	60665317	60665317	+	Splice_Site	SNP	C	C	G			TCGA-P5-A77X-01A-11D-A32B-08	TCGA-P5-A77X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1b13a0-7298-4022-915f-dd2acdfd704f	6fb29fc2-6fba-49f9-ba3f-4404eb6eea1b	g.chr11:60665317C>G	ENST00000227524.4	-	15	1623		c.e15+1			NM_014502.4	NP_055317.1	Q9UMS4	PRP19_HUMAN	pre-mRNA processing factor 19						DNA repair|protein polyubiquitination|spliceosome assembly	catalytic step 2 spliceosome|nuclear speck|spindle|ubiquitin ligase complex	DNA binding|identical protein binding|ubiquitin-ubiquitin ligase activity			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1)	22						CCAGCCTCTACCTGTAAAGTG	0.527													3	92					0	0	1	0	0	G	60665317	C	G	60665317	5	3	373	1	0	0	0	0	0	0	1	0	12616	521	18	5	104	5	PRPF19	11	60665317	Splice_Site	SNP	C	TCGA-P5-A77X-01A-11D-A32B-08	41942017	60665317	74341199	28	32425											
PACS1	55690	broad.mit.edu	37	11	65838061	65838061	+	Missense_Mutation	SNP	A	A	C			TCGA-P5-A77X-01A-11D-A32B-08	TCGA-P5-A77X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1b13a0-7298-4022-915f-dd2acdfd704f	6fb29fc2-6fba-49f9-ba3f-4404eb6eea1b	g.chr11:65838061A>C	ENST00000320580.4	+	1	137	c.104A>C	c.(103-105)cAg>cCg	p.Q35P		NM_018026.3	NP_060496.2	Q6VY07	PACS1_HUMAN	phosphofurin acidic cluster sorting protein 1	35	Gly-rich.|Poly-Gln.				interspecies interaction between organisms|regulation of defense response to virus by virus|viral reproduction	cytosol	protein binding		RBM14/PACS1(2)	breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(8)|ovary(6)|skin(2)|urinary_tract(1)	37						ccgccgccgcagcagcagcag	0.796													2	3					0	0	1	0	0	C	65838061	A	C	65838061	3	2	373	1	0	0	0	0	1	0	0	0	11419	188	7	5	106	5	PACS1	11	65838061	Missense_Mutation	SNP	A	TCGA-P5-A77X-01A-11D-A32B-08	5172744	65838061	69168455	29	32426											
USP28	57646	broad.mit.edu	37	11	113704275	113704276	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-P5-A77X-01A-11D-A32B-08	TCGA-P5-A77X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1b13a0-7298-4022-915f-dd2acdfd704f	6fb29fc2-6fba-49f9-ba3f-4404eb6eea1b	g.chr11:113704275_113704276delTT	ENST00000003302.4	-	7	693_694	c.625_626delAA	c.(625-627)aagfs	p.K209fs	USP28_ENST00000537706.1_Frame_Shift_Del_p.K209fs|USP28_ENST00000545540.1_Frame_Shift_Del_p.K84fs|USP28_ENST00000542033.1_5'UTR|USP28_ENST00000260188.5_Frame_Shift_Del_p.K209fs	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN	ubiquitin specific peptidase 28	209					cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process	nucleolus|nucleoplasm	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		GATATTTCTCTTTTCCTGTAGA	0.332													26	39	---	---	---	---						-	113704276	TT	-	113704275	7	5	373	1	0	1	0	1	0	0	0	0	17118	1609	56	0	2683	0	USP28	11	113704275	Frame_Shift_Del	DEL	TT	TCGA-P5-A77X-01A-11D-A32B-08	47866214	113704275	21302241	30	32427											
TAS2R31	259290	broad.mit.edu	37	12	11183257	11183258	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-P5-A77X-01A-11D-A32B-08	TCGA-P5-A77X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1b13a0-7298-4022-915f-dd2acdfd704f	6fb29fc2-6fba-49f9-ba3f-4404eb6eea1b	g.chr12:11183257_11183258delTT	ENST00000390675.2	-	1	748_749	c.677_678delAA	c.(676-678)aaafs	p.K226fs	PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron	NM_176885.2	NP_795366.2	P59538	T2R31_HUMAN	taste receptor, type 2, member 31	226					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			kidney(1)|lung(6)	7						TTTGCAAAGCTTTTATGTGGAC	0.396													34	149	---	---	---	---						-	11183258	TT	-	11183257	7	5	373	1	0	1	0	1	0	0	0	0	15631	1606	56	0	255	0	TAS2R31	12	11183257	Frame_Shift_Del	DEL	TT	TCGA-P5-A77X-01A-11D-A32B-08		11183257	122668638	31	32428											
WDR66	144406	broad.mit.edu	37	12	122396945	122396945	+	Missense_Mutation	SNP	G	G	T			TCGA-P5-A77X-01A-11D-A32B-08	TCGA-P5-A77X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1b13a0-7298-4022-915f-dd2acdfd704f	6fb29fc2-6fba-49f9-ba3f-4404eb6eea1b	g.chr12:122396945G>T	ENST00000288912.4	+	13	2932	c.2078G>T	c.(2077-2079)aGa>aTa	p.R693I	WDR66_ENST00000397454.2_Missense_Mutation_p.R693I	NM_144668.5	NP_653269.3	Q8TBY9	WDR66_HUMAN	WD repeat domain 66	693							calcium ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)		AAATATTCCAGAACCAGTGTG	0.423													8	152					1.06961e-07	1.09287e-07	1	1	0	T	122396945	G	T	122396945	3	4	373	1	0	0	0	0	1	0	0	0	17377	942	33	4	2124	4	WDR66	12	122396945	Missense_Mutation	SNP	G	TCGA-P5-A77X-01A-11D-A32B-08	111213688	122396945	11454950	32	32429											
OLFM4	10562	broad.mit.edu	37	13	53603147	53603147	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A77X-01A-11D-A32B-08	TCGA-P5-A77X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1b13a0-7298-4022-915f-dd2acdfd704f	6fb29fc2-6fba-49f9-ba3f-4404eb6eea1b	g.chr13:53603147G>A	ENST00000219022.2	+	1	254	c.176G>A	c.(175-177)aGc>aAc	p.S59N		NM_006418.4	NP_006409.3	Q6UX06	OLFM4_HUMAN	olfactomedin 4	59	Ser-rich.				cell adhesion	extracellular space				breast(2)|endometrium(4)|kidney(4)|large_intestine(5)|lung(20)|skin(3)|urinary_tract(1)	39		Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.13e-08)		tccagccgcagcTTAGGCAGC	0.572													27	72					0	0	1	0	0	A	53603147	G	A	53603147	3	1	373	1	0	0	0	0	1	0	0	0	10903	971	34	2	178	2	OLFM4	13	53603147	Missense_Mutation	SNP	G	TCGA-P5-A77X-01A-11D-A32B-08		53603147	61566731	33	32430											
HDGFRP3	50810	broad.mit.edu	37	15	83876152	83876152	+	Frame_Shift_Del	DEL	C	C	-			TCGA-P5-A77X-01A-11D-A32B-08	TCGA-P5-A77X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1b13a0-7298-4022-915f-dd2acdfd704f	6fb29fc2-6fba-49f9-ba3f-4404eb6eea1b	g.chr15:83876152delC	ENST00000299633.4	-	1	618	c.15delG	c.(13-15)cggfs	p.R5fs	RP11-382A20.4_ENST00000565495.1_RNA	NM_016073.3	NP_057157.1	Q9Y3E1	HDGR3_HUMAN		5					cell proliferation	nucleus	growth factor activity			kidney(1)|large_intestine(1)|lung(4)|prostate(1)	7						ACTCGCGGGGCCGCGGACGCG	0.756													2	4	---	---	---	---						-	83876152	C	-	83876152	7	5	373	1	0	1	0	1	0	0	0	0	7062	726	26	0	620	0	HDGFRP3	15	83876152	Frame_Shift_Del	DEL	C	TCGA-P5-A77X-01A-11D-A32B-08		83876152	18655240	34	32431											
CHD9	80205	broad.mit.edu	37	16	53276924	53276924	+	Missense_Mutation	SNP	A	A	G			TCGA-P5-A77X-01A-11D-A32B-08	TCGA-P5-A77X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1b13a0-7298-4022-915f-dd2acdfd704f	6fb29fc2-6fba-49f9-ba3f-4404eb6eea1b	g.chr16:53276924A>G	ENST00000566029.1	+	13	3259	c.3050A>G	c.(3049-3051)aAt>aGt	p.N1017S	CHD9_ENST00000398510.3_Missense_Mutation_p.N1017S|CHD9_ENST00000564845.1_Missense_Mutation_p.N1017S|CHD9_ENST00000447540.1_Missense_Mutation_p.N1017S			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	1017	Helicase ATP-binding.				cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				AAACTCATGAATCTGGTAAGT	0.279													3	57					0	0	1	0	0	G	53276924	A	G	53276924	3	3	373	1	0	0	0	0	1	0	0	0	3354	101	4	3	3096	3	CHD9	16	53276924	Missense_Mutation	SNP	A	TCGA-P5-A77X-01A-11D-A32B-08		53276924	37077829	35	32432											
ARHGEF15	22899	broad.mit.edu	37	17	8215685	8215685	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A77X-01A-11D-A32B-08	TCGA-P5-A77X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1b13a0-7298-4022-915f-dd2acdfd704f	6fb29fc2-6fba-49f9-ba3f-4404eb6eea1b	g.chr17:8215685C>T	ENST00000361926.3	+	2	438	c.328C>T	c.(328-330)Cca>Tca	p.P110S	ARHGEF15_ENST00000421050.1_Missense_Mutation_p.P110S	NM_173728.3	NP_776089.2	O94989	ARHGF_HUMAN	Rho guanine nucleotide exchange factor (GEF) 15	110	Pro-rich.				negative regulation of synapse maturation|regulation of Rho protein signal transduction	dendrite|intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	p.P110T(1)		breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						CTCCGCCTCCCCAGAACCTGC	0.672													4	158					0	0	1	0	0	T	8215685	C	T	8215685	3	4	373	1	0	0	0	0	1	0	0	0	895	623	22	2	330	2	ARHGEF15	17	8215685	Missense_Mutation	SNP	C	TCGA-P5-A77X-01A-11D-A32B-08		8215685	72979525	36	32433											
ATAD5	79915	broad.mit.edu	37	17	29220737	29220740	+	Frame_Shift_Del	DEL	AAAG	AAAG	-			TCGA-P5-A77X-01A-11D-A32B-08	TCGA-P5-A77X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1b13a0-7298-4022-915f-dd2acdfd704f	6fb29fc2-6fba-49f9-ba3f-4404eb6eea1b	g.chr17:29220737_29220740delAAAG	ENST00000321990.4	+	21	5244_5247	c.4866_4869delAAAG	c.(4864-4869)acaaagfs	p.TK1622fs		NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	1622					response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				ATCCAGAGACAAAGAAATCTATTC	0.392													45	73	---	---	---	---						-	29220740	AAAG	-	29220737	7	5	373	1	0	1	0	1	0	0	0	0	1075	117	5	0	4948	0	ATAD5	17	29220737	Frame_Shift_Del	DEL	AAAG	TCGA-P5-A77X-01A-11D-A32B-08	21005052	29220737	51974473	37	32434											
RHOT1	55288	broad.mit.edu	37	17	30534025	30534025	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A77X-01A-11D-A32B-08	TCGA-P5-A77X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1b13a0-7298-4022-915f-dd2acdfd704f	6fb29fc2-6fba-49f9-ba3f-4404eb6eea1b	g.chr17:30534025G>A	ENST00000358365.3	+	17	1740	c.1513G>A	c.(1513-1515)Gaa>Aaa	p.E505K	RHOT1_ENST00000581094.1_Missense_Mutation_p.E505K|RHOT1_ENST00000394692.2_Missense_Mutation_p.E505K|RHOT1_ENST00000583994.1_Missense_Mutation_p.E378K|RHOT1_ENST00000354266.3_Missense_Mutation_p.E484K|RHOT1_ENST00000333942.6_Missense_Mutation_p.E505K|RHOT1_ENST00000545287.2_Missense_Mutation_p.E505K	NM_001033568.1	NP_001028740.1	Q8IXI2	MIRO1_HUMAN	ras homolog family member T1	505	Miro 2.				apoptosis|cellular homeostasis|mitochondrion transport along microtubule|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to mitochondrial outer membrane|plasma membrane	calcium ion binding|GTP binding|GTPase activity|protein binding	p.E505Q(1)		NS(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28		Myeloproliferative disorder(56;0.0255)|Breast(31;0.116)|Ovarian(249;0.182)				CAAATCCTTTGAATACTGTGC	0.373													37	75					0	0	1	0	0	A	30534025	G	A	30534025	3	1	373	1	0	0	0	0	1	0	0	0	13393	1291	45	2	1579	2	RHOT1	17	30534025	Missense_Mutation	SNP	G	TCGA-P5-A77X-01A-11D-A32B-08	1313288	30534025	50661185	38	32435											
LRRC37A2	474170	broad.mit.edu	37	17	44630791	44630793	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-P5-A77X-01A-11D-A32B-08	TCGA-P5-A77X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1b13a0-7298-4022-915f-dd2acdfd704f	6fb29fc2-6fba-49f9-ba3f-4404eb6eea1b	g.chr17:44630791_44630793delAAG	ENST00000576629.1	+	12	5330_5332	c.4835_4837delAAG	c.(4834-4839)caagaa>caa	p.E1613del	ARL17A_ENST00000329240.4_Intron|ARL17A_ENST00000445552.2_Intron|ARL17A_ENST00000337845.7_Intron|LRRC37A2_ENST00000333412.3_In_Frame_Del_p.E1613del|ARL17A_ENST00000573185.1_Intron|ARL17A_ENST00000570550.1_Intron			A6NM11	L37A2_HUMAN	leucine rich repeat containing 37, member A2	1613						integral to membrane				endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|pancreas(4)|prostate(2)	15		Melanoma(429;0.211)		BRCA - Breast invasive adenocarcinoma(366;0.232)		AGGTCATTACAAGAAGATGAAGA	0.369													23	243	---	---	---	---						-	44630793	AAG	-	44630791	7	5	373	1	0	1	0	1	0	0	0	0	9037	130	5	0	4877	0	LRRC37A2	17	44630791	In_Frame_Del	DEL	AAG	TCGA-P5-A77X-01A-11D-A32B-08	14096766	44630791	36564419	39	32436											
CACNA1G	8913	broad.mit.edu	37	17	48653584	48653584	+	Frame_Shift_Del	DEL	A	A	-			TCGA-P5-A77X-01A-11D-A32B-08	TCGA-P5-A77X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1b13a0-7298-4022-915f-dd2acdfd704f	6fb29fc2-6fba-49f9-ba3f-4404eb6eea1b	g.chr17:48653584delA	ENST00000352832.5	+	8	2193	c.1821delA	c.(1819-1821)ctafs	p.L607fs	CACNA1G_ENST00000515165.1_Frame_Shift_Del_p.L607fs|CACNA1G_ENST00000354983.4_Frame_Shift_Del_p.L607fs|CACNA1G_ENST00000512389.1_Frame_Shift_Del_p.L607fs|CACNA1G_ENST00000502264.1_Frame_Shift_Del_p.L607fs|CACNA1G_ENST00000514181.1_Frame_Shift_Del_p.L607fs|CACNA1G_ENST00000507336.1_Frame_Shift_Del_p.L607fs|CACNA1G_ENST00000442258.2_Frame_Shift_Del_p.L607fs|CACNA1G_ENST00000514079.1_Frame_Shift_Del_p.L607fs|CACNA1G_ENST00000513689.2_Frame_Shift_Del_p.L607fs|CACNA1G_ENST00000359106.5_Frame_Shift_Del_p.L607fs|CACNA1G_ENST00000507609.1_Frame_Shift_Del_p.L607fs|CACNA1G_ENST00000514717.1_Frame_Shift_Del_p.L607fs|CACNA1G_ENST00000515765.1_Frame_Shift_Del_p.L607fs|CACNA1G_ENST00000513964.1_Frame_Shift_Del_p.L607fs|CACNA1G_ENST00000503485.1_Frame_Shift_Del_p.L607fs|CACNA1G_ENST00000507510.2_Frame_Shift_Del_p.L607fs|CACNA1G_ENST00000358244.5_Frame_Shift_Del_p.L607fs|CACNA1G_ENST00000416767.4_Frame_Shift_Del_p.L607fs|CACNA1G_ENST00000510366.1_Frame_Shift_Del_p.L607fs|CACNA1G_ENST00000360761.4_Frame_Shift_Del_p.L607fs|CACNA1G_ENST00000429973.2_Frame_Shift_Del_p.L607fs|CACNA1G_ENST00000505165.1_Frame_Shift_Del_p.L607fs|CACNA1G_ENST00000515411.1_Frame_Shift_Del_p.L607fs|CACNA1G_ENST00000510115.1_Frame_Shift_Del_p.L607fs|CACNA1G_ENST00000507896.1_Frame_Shift_Del_p.L607fs	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	607					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	AGAAGGCACTAGTAGAGGTGG	0.637													2	4	---	---	---	---						-	48653584	A	-	48653584	7	5	373	1	0	1	0	1	0	0	0	0	2562	407	15	0	1851	0	CACNA1G	17	48653584	Frame_Shift_Del	DEL	A	TCGA-P5-A77X-01A-11D-A32B-08	4022793	48653584	32541626	40	32437											
MATK	4145	broad.mit.edu	37	19	3785085	3785086	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-P5-A77X-01A-11D-A32B-08	TCGA-P5-A77X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1b13a0-7298-4022-915f-dd2acdfd704f	6fb29fc2-6fba-49f9-ba3f-4404eb6eea1b	g.chr19:3785085_3785086delCA	ENST00000310132.6	-	2	446_447	c.48_49delTG	c.(46-51)tgtgatfs	p.CD16fs	MATK_ENST00000585778.1_Frame_Shift_Del_p.CD16fs|MATK_ENST00000395045.2_Intron|MATK_ENST00000395040.2_Intron	NM_139355.2	NP_647612.1	P42679	MATK_HUMAN	megakaryocyte-associated tyrosine kinase	16					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)		TCAGCAGAATCACAGCCGTGAA	0.619													23	43	---	---	---	---						-	3785086	CA	-	3785085	7	5	373	1	0	1	0	1	0	0	0	0	9382	826	29	0	1526	0	MATK	19	3785085	Frame_Shift_Del	DEL	CA	TCGA-P5-A77X-01A-11D-A32B-08		3785085	55343898	41	32438											
CYP4F11	57834	broad.mit.edu	37	19	16040277	16040277	+	Silent	SNP	G	G	A			TCGA-P5-A77X-01A-11D-A32B-08	TCGA-P5-A77X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1b13a0-7298-4022-915f-dd2acdfd704f	6fb29fc2-6fba-49f9-ba3f-4404eb6eea1b	g.chr19:16040277G>A	ENST00000402119.4	-	2	759	c.333C>T	c.(331-333)acC>acT	p.T111T	CYP4F11_ENST00000326742.8_Silent_p.T111T|CYP4F11_ENST00000248041.8_Silent_p.T111T	NM_021187.3	NP_067010.3	Q9HBI6	CP4FB_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 11						inflammatory response|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3)	25						CTGAGGCACTGGTGATAGGCC	0.582													61	101					0	0	1	0	0	A	16040277	G	A	16040277	2	1	373	1	0	0	0	0	0	0	0	1	4209	1335	47	2		2	CYP4F11	19	16040277	Silent	SNP	G	TCGA-P5-A77X-01A-11D-A32B-08	12255192	16040277	43088706	42	32439											
CIC	23152	broad.mit.edu	37	19	42795543	42795544	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-P5-A77X-01A-11D-A32B-08	TCGA-P5-A77X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1b13a0-7298-4022-915f-dd2acdfd704f	6fb29fc2-6fba-49f9-ba3f-4404eb6eea1b	g.chr19:42795543_42795544delAA	ENST00000572681.2	+	11	5418_5419	c.5350_5351delAA	c.(5350-5352)aaafs	p.K1784fs	CIC_ENST00000160740.3_Frame_Shift_Del_p.K875fs|CIC_ENST00000575354.2_Frame_Shift_Del_p.K875fs			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	875					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CACCAACGGCAAAGTCCTGGCT	0.683			"Mis, F, S"		oligodendroglioma								21	19	---	---	---	---						-	42795544	AA	-	42795543	7	5	373	1	0	1	0	1	0	0	0	0	3446	131	5	0	2661	0	CIC	19	42795543	Frame_Shift_Del	DEL	AA	TCGA-P5-A77X-01A-11D-A32B-08	26755266	42795543	16333440	43	32440											
BIRC7	79444	broad.mit.edu	37	20	61867458	61867458	+	Frame_Shift_Del	DEL	A	A	-			TCGA-P5-A77X-01A-11D-A32B-08	TCGA-P5-A77X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1b13a0-7298-4022-915f-dd2acdfd704f	6fb29fc2-6fba-49f9-ba3f-4404eb6eea1b	g.chr20:61867458delA	ENST00000217169.3	+	1	224	c.10delA	c.(10-12)aaafs	p.K4fs	BIRC7_ENST00000342412.6_Frame_Shift_Del_p.K4fs	NM_139317.1	NP_647478.1	Q96CA5	BIRC7_HUMAN	baculoviral IAP repeat containing 7	4					activation of JUN kinase activity|anti-apoptosis|DNA fragmentation involved in apoptotic nuclear change	cytoplasm|nucleus	enzyme binding|zinc ion binding			endometrium(1)|kidney(1)|lung(9)|ovary(1)	12	all_cancers(38;2.72e-09)					CATGGGACCTAAAGACAGTGC	0.627													2	4	---	---	---	---						-	61867458	A	-	61867458	7	5	373	1	0	1	0	1	0	0	0	0	1438	363	13	0	12	0	BIRC7	20	61867458	Frame_Shift_Del	DEL	A	TCGA-P5-A77X-01A-11D-A32B-08		61867458	1158062	44	32441											
COL6A2	1292	broad.mit.edu	37	21	47545900	47545900	+	Missense_Mutation	SNP	G	G	A	rs145450812		TCGA-P5-A77X-01A-11D-A32B-08	TCGA-P5-A77X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1b13a0-7298-4022-915f-dd2acdfd704f	6fb29fc2-6fba-49f9-ba3f-4404eb6eea1b	g.chr21:47545900G>A	ENST00000300527.4	+	26	2275	c.2171G>A	c.(2170-2172)cGt>cAt	p.R724H	COL6A2_ENST00000397763.1_Missense_Mutation_p.R724H|COL6A2_ENST00000310645.5_Missense_Mutation_p.R724H|COL6A2_ENST00000357838.4_Missense_Mutation_p.R724H|COL6A2_ENST00000409416.1_Missense_Mutation_p.R724H	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	724	Nonhelical region.|VWFA 2.		R -> C.		axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging			NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		CAGAAGACACGTGTGTTTGCG	0.642													15	61					0	0	1	0	0	A	47545900	G	A	47545900	3	1	373	1	0	0	0	0	1	0	0	0	3723	1145	40	1	2269	1	COL6A2	21	47545900	Missense_Mutation	SNP	G	TCGA-P5-A77X-01A-11D-A32B-08		47545900	583995	45	32442											
EP300	2033	broad.mit.edu	37	22	41513608	41513608	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A77X-01A-11D-A32B-08	TCGA-P5-A77X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1b13a0-7298-4022-915f-dd2acdfd704f	6fb29fc2-6fba-49f9-ba3f-4404eb6eea1b	g.chr22:41513608C>T	ENST00000263253.7	+	2	1731	c.512C>T	c.(511-513)gCg>gTg	p.A171V		NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	171					apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						GGGATGAATGCGGGCATGAAT	0.502			"T,  N, F, Mis, O"	"MLL, RUNXBP2"	"colorectal, breast, pancreatic, AML, ALL, DLBCL"				Rubinstein-Taybi syndrome				3	50					0	0	1	0	0	T	41513608	C	T	41513608	3	4	373	1	0	0	0	0	1	0	0	0	5176	768	27	1	518	1	EP300	22	41513608	Missense_Mutation	SNP	C	TCGA-P5-A77X-01A-11D-A32B-08		41513608	9790958	46	32443											
IL1RAPL1	11141	broad.mit.edu	37	X	29414470	29414470	+	Missense_Mutation	SNP	A	A	C			TCGA-P5-A77X-01A-11D-A32B-08	TCGA-P5-A77X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1b13a0-7298-4022-915f-dd2acdfd704f	6fb29fc2-6fba-49f9-ba3f-4404eb6eea1b	g.chrX:29414470A>C	ENST00000378993.1	+	4	1131	c.458A>C	c.(457-459)aAa>aCa	p.K153T	IL1RAPL1_ENST00000302196.4_Missense_Mutation_p.K153T	NM_014271.3	NP_055086.1	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	153	Ig-like C2-type 2.				innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity			biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						TATTTTGAAAAAGCTGAACTT	0.393													6	97					0	0	1	0	0	C	29414470	A	C	29414470	3	2	373	1	0	0	0	0	1	0	0	0	7705	14	1	5	468	5	IL1RAPL1	23	29414470	Missense_Mutation	SNP	A	TCGA-P5-A77X-01A-11D-A32B-08		29414470	125856090	47	32444											
SHROOM4	57477	broad.mit.edu	37	X	50377747	50377747	+	Silent	SNP	C	C	A			TCGA-P5-A77X-01A-11D-A32B-08	TCGA-P5-A77X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1b13a0-7298-4022-915f-dd2acdfd704f	6fb29fc2-6fba-49f9-ba3f-4404eb6eea1b	g.chrX:50377747C>A	ENST00000376020.2	-	4	1351	c.1326G>T	c.(1324-1326)ggG>ggT	p.G442G	SHROOM4_ENST00000289292.7_Silent_p.G442G|SHROOM4_ENST00000460112.3_Silent_p.G326G	NM_020717.3	NP_065768.2	Q9ULL8	SHRM4_HUMAN	shroom family member 4	442					actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					TCCACTGGTGCCCATCCTGTA	0.577													19	35					8.34094e-07	8.34094e-07	1	1	0	A	50377747	C	A	50377747	2	1	373	1	0	0	0	0	0	0	0	1	14351	726	26	5		5	SHROOM4	23	50377747	Silent	SNP	C	TCGA-P5-A77X-01A-11D-A32B-08	20963277	50377747	104892813	48	32445											
GUCY2F	2986	broad.mit.edu	37	X	108719067	108719067	+	Silent	SNP	C	C	A			TCGA-P5-A77X-01A-11D-A32B-08	TCGA-P5-A77X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1b13a0-7298-4022-915f-dd2acdfd704f	6fb29fc2-6fba-49f9-ba3f-4404eb6eea1b	g.chrX:108719067C>A	ENST00000218006.2	-	2	390	c.99G>T	c.(97-99)ctG>ctT	p.L33L		NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN	guanylate cyclase 2F, retinal	33					intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						ACAAGCACCACAGGAACTTGG	0.567											OREG0019905	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	44	54					1.62957e-23	1.702e-23	1	1	0	A	108719067	C	A	108719067	2	1	373	1	0	0	0	0	0	0	0	1	6939	465	17	5		5	GUCY2F	23	108719067	Silent	SNP	C	TCGA-P5-A77X-01A-11D-A32B-08	58341320	108719067	46551493	49	32446											
IKBKG	8517	broad.mit.edu	37	X	153780226	153780226	+	Silent	SNP	G	G	A			TCGA-P5-A77X-01A-11D-A32B-08	TCGA-P5-A77X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1b13a0-7298-4022-915f-dd2acdfd704f	6fb29fc2-6fba-49f9-ba3f-4404eb6eea1b	g.chrX:153780226G>A	ENST00000393549.2	+	2	132	c.9G>A	c.(7-9)agG>agA	p.R3R	IKBKG_ENST00000369609.5_Silent_p.R71R|IKBKG_ENST00000369601.3_Silent_p.R3R|IKBKG_ENST00000369606.4_Silent_p.R3R|IKBKG_ENST00000455588.2_Silent_p.R3R|IKBKG_ENST00000263518.6_Silent_p.R3R|IKBKG_ENST00000470142.1_Silent_p.R3R|IKBKG_ENST00000369602.3_Silent_p.R3R|IKBKG_ENST00000369607.1_Silent_p.R3R			Q9Y6K9	NEMO_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma	3					activation of MAPK activity|induction of apoptosis|innate immune response|interspecies interaction between organisms|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|response to DNA damage stimulus|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|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, DNA-dependent	cytosol|nucleus	metal ion binding|protein domain specific binding|signal transducer activity			endometrium(1)|lung(1)	2	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GGATGAATAGGCACCTCTGGA	0.577													12	177					0	0	1	0	0	A	153780226	G	A	153780226	2	1	373	1	0	0	0	0	0	0	0	1	7657	1194	42	2		2	IKBKG	23	153780226	Silent	SNP	G	TCGA-P5-A77X-01A-11D-A32B-08	45061159	153780226	1490334	50	32447											
ARID1A	8289	broad.mit.edu	37	1	27101119	27101119	+	Silent	SNP	C	C	T			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr1:27101119C>T	ENST00000324856.7	+	18	4772	c.4401C>T	c.(4399-4401)ccC>ccT	p.P1467P	ARID1A_ENST00000457599.2_Intron|ARID1A_ENST00000374152.2_Silent_p.P1084P|ARID1A_ENST00000540690.1_Intron	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1467					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		TCTCTGCACCCCCTGGCACCA	0.612			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"								9	79					0	0	1	0	0	T	27101119	C	T	27101119	2	4	374	1	0	0	0	0	0	0	0	1	910	610	22	2		2	ARID1A	1	27101119	Silent	SNP	C	TCGA-P5-A780-01A-12D-A32B-08		27101119	222149502	1	32448											
SEC22B	9554	broad.mit.edu	37	1	145103950	145103950	+	RNA	DEL	C	C	-			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr1:145103950delC	ENST00000453618.1	+	0	445							O75396	SC22B_HUMAN	SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)						ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome	protein binding										GGCTAAGTAACTCTTTCGAAA	0.393													7	21	---	---	---	---						-	145103950	C	-	145103950	6	5	374	0	1	1	0	1	0	0	0	0	14043	565	20	0		0	SEC22B	1	145103950	RNA	DEL	C	TCGA-P5-A780-01A-12D-A32B-08	118002831	145103950	104146671	2	32449											
SETDB1	9869	broad.mit.edu	37	1	150933218	150933218	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr1:150933218G>A	ENST00000271640.5	+	16	2870	c.2680G>A	c.(2680-2682)Ggt>Agt	p.G894S	SETDB1_ENST00000368969.4_Missense_Mutation_p.G894S|SETDB1_ENST00000459773.1_3'UTR	NM_001145415.1|NM_012432.3	NP_001138887.1|NP_036564.3	Q15047	SETB1_HUMAN	SET domain, bifurcated 1	894	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|Golgi apparatus|nucleus|plasma membrane	DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding			NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)			TGGCAACAGCGGTACAGAGGA	0.502													3	66					0	0	1	0	0	A	150933218	G	A	150933218	3	1	374	1	0	0	0	0	1	0	0	0	14192	1116	39	1	2738	1	SETDB1	1	150933218	Missense_Mutation	SNP	G	TCGA-P5-A780-01A-12D-A32B-08	5829268	150933218	98317403	3	32450											
TLR5	7100	broad.mit.edu	37	1	223285784	223285784	+	Missense_Mutation	SNP	G	G	A	rs146146738		TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr1:223285784G>A	ENST00000540964.1	-	4	1051	c.590C>T	c.(589-591)aCg>aTg	p.T197M	TLR5_ENST00000342210.6_Missense_Mutation_p.T197M			O60602	TLR5_HUMAN	toll-like receptor 5	197					cellular response to mechanical stimulus|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway	integral to membrane|plasma membrane	interleukin-1 receptor binding|transmembrane receptor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(131;0.0851)		AAAGGAGAGCGTTTTCCCTTG	0.428													10	42					0	0	1	0	0	A	223285784	G	A	223285784	3	1	374	1	0	0	0	0	1	0	0	0	16014	1145	40	1	1990	1	TLR5	1	223285784	Missense_Mutation	SNP	G	TCGA-P5-A780-01A-12D-A32B-08	72352566	223285784	25964837	4	32451											
OR2T33	391195	broad.mit.edu	37	1	248436203	248436203	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr1:248436203G>A	ENST00000318021.2	-	1	935	c.914C>T	c.(913-915)aCg>aTg	p.T305M		NM_001004695.1	NP_001004695.1	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T, member 33	305					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			GTTTACACACGTCCCCAGCCA	0.423													75	102					0	0	1	0	0	A	248436203	G	A	248436203	3	1	374	1	0	0	0	0	1	0	0	0	11072	1145	40	1	51	1	OR2T33	1	248436203	Missense_Mutation	SNP	G	TCGA-P5-A780-01A-12D-A32B-08	25150419	248436203	814418	5	32452											
APOB	338	broad.mit.edu	37	2	21263858	21263858	+	Missense_Mutation	SNP	A	A	C			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr2:21263858A>C	ENST00000233242.1	-	4	462	c.335T>G	c.(334-336)tTg>tGg	p.L112W	APOB_ENST00000399256.4_Missense_Mutation_p.L112W	NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	112	Heparin-binding.|Vitellogenin.				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TTTCTTCAGCAAGGCTTTGCC	0.527													5	18					0	0	1	0	0	C	21263858	A	C	21263858	3	2	374	1	0	0	0	0	1	0	0	0	782	131	5	5	13460	5	APOB	2	21263858	Missense_Mutation	SNP	A	TCGA-P5-A780-01A-12D-A32B-08		21263858	221935515	6	32453											
TRMT61B	55006	broad.mit.edu	37	2	29074043	29074043	+	Nonsense_Mutation	SNP	C	C	A	rs147013173		TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr2:29074043C>A	ENST00000306108.5	-	5	1230	c.1207G>T	c.(1207-1209)Gga>Tga	p.G403*		NM_017910.3	NP_060380.3	Q9BVS5	TR61B_HUMAN	tRNA methyltransferase 61 homolog B (S. cerevisiae)	403							tRNA (adenine-N1-)-methyltransferase activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(8)	13						GCTAAAATTCCATTTTTCTGT	0.363													17	32					4.75885e-15	5.08705e-15	1	1	0	A	29074043	C	A	29074043	4	1	374	1	0	0	0	0	0	1	0	0	16631	603	21	5	238	5	TRMT61B	2	29074043	Nonsense_Mutation	SNP	C	TCGA-P5-A780-01A-12D-A32B-08	7810185	29074043	214125330	7	32454											
OSBPL6	114880	broad.mit.edu	37	2	179238675	179238675	+	Missense_Mutation	SNP	G	G	A	rs149806664		TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr2:179238675G>A	ENST00000190611.4	+	15	1830	c.1454G>A	c.(1453-1455)cGc>cAc	p.R485H	OSBPL6_ENST00000315022.2_Missense_Mutation_p.R489H|OSBPL6_ENST00000409631.1_Missense_Mutation_p.R449H|OSBPL6_ENST00000357080.4_Missense_Mutation_p.R418H|OSBPL6_ENST00000409045.3_Missense_Mutation_p.R454H|OSBPL6_ENST00000392505.2_Missense_Mutation_p.R510H|OSBPL6_ENST00000359685.3_Missense_Mutation_p.R449H	NM_032523.3	NP_115912.1	Q9BZF3	OSBL6_HUMAN	oxysterol binding protein-like 6	485					lipid transport		lipid binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			AATGAGAGCCGCCTCTCCATG	0.483													10	46					0	0	1	0	0	A	179238675	G	A	179238675	3	1	374	1	0	0	0	0	1	0	0	0	11328	1087	38	1	1626	1	OSBPL6	2	179238675	Missense_Mutation	SNP	G	TCGA-P5-A780-01A-12D-A32B-08	150164632	179238675	63960698	8	32455											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								21	41					0	0	1	0	0	T	209113112	C	T	209113112	3	4	374	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-P5-A780-01A-12D-A32B-08	29874437	209113112	34086261	9	32456											
PLCL2	23228	broad.mit.edu	37	3	17056281	17056281	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr3:17056281C>T	ENST00000418129.2	+	3	2983	c.2518C>T	c.(2518-2520)Cgc>Tgc	p.R840C	PLCL2_ENST00000432376.1_Missense_Mutation_p.R840C|PLCL2_ENST00000396755.2_Missense_Mutation_p.R840C	NM_001144382.1	NP_001137854.1	Q9UPR0	PLCL2_HUMAN	phospholipase C-like 2	966	C2.				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						GGTGTCTCCCCGCTTTCTGGG	0.537													26	140					0	0	1	0	0	T	17056281	C	T	17056281	3	4	374	1	0	0	0	0	1	0	0	0	12088	652	23	1	2900	1	PLCL2	3	17056281	Missense_Mutation	SNP	C	TCGA-P5-A780-01A-12D-A32B-08		17056281	180966149	10	32457											
SGOL1	151648	broad.mit.edu	37	3	20215787	20215787	+	Silent	SNP	T	T	A			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr3:20215787T>A	ENST00000412997.1	-	6	1587	c.1236A>T	c.(1234-1236)acA>acT	p.T412T	SGOL1_ENST00000412868.1_Silent_p.T412T|SGOL1_ENST00000442720.1_Intron|SGOL1-AS1_ENST00000441442.1_RNA|SGOL1_ENST00000443724.1_Intron|SGOL1_ENST00000383774.1_Intron|SGOL1_ENST00000421451.1_Silent_p.T412T|SGOL1_ENST00000306698.2_Intron|SGOL1_ENST00000419233.2_Intron|SGOL1_ENST00000429446.3_Intron|SGOL1_ENST00000263753.4_Silent_p.T412T|SGOL1_ENST00000417364.1_Intron|SGOL1-AS1_ENST00000448208.1_RNA|SGOL1_ENST00000452020.1_Intron|SGOL1_ENST00000437051.1_Intron|SGOL1_ENST00000425061.1_Intron	NM_001199251.1	NP_001186180.1	Q5FBB7	SGOL1_HUMAN	shugoshin-like 1 (S. pombe)	412					attachment of spindle microtubules to kinetochore|cell division|centriole-centriole cohesion|meiotic chromosome segregation|mitotic prometaphase	centrosome|condensed chromosome kinetochore|cytosol|mitotic cohesin complex|spindle pole	protein binding			kidney(1)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(2)	14						CTTTTTCATCTGTGTATTTCA	0.403													21	100					0	0	1	0	0	A	20215787	T	A	20215787	2	1	374	1	0	0	0	0	0	0	0	1	14270	1567	55	5		5	SGOL1	3	20215787	Silent	SNP	T	TCGA-P5-A780-01A-12D-A32B-08	3159506	20215787	177806643	11	32458											
CACNA1D	776	broad.mit.edu	37	3	53694205	53694205	+	Silent	SNP	C	C	T			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr3:53694205C>T	ENST00000288139.4	+	5	787	c.669C>T	c.(667-669)ggC>ggT	p.G223G	CACNA1D_ENST00000422281.2_Silent_p.G223G|CACNA1D_ENST00000350061.5_Silent_p.G223G	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit						axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	AAACAGAAGGCGGGAACCACT	0.458													17	31					0	0	1	0	0	T	53694205	C	T	53694205	2	4	374	1	0	0	0	0	0	0	0	1	2559	755	27	1		1	CACNA1D	3	53694205	Silent	SNP	C	TCGA-P5-A780-01A-12D-A32B-08	33478418	53694205	144328225	12	32459											
CENPE	1062	broad.mit.edu	37	4	104030019	104030019	+	Missense_Mutation	SNP	G	G	C			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr4:104030019G>C	ENST00000265148.3	-	48	8041	c.7952C>G	c.(7951-7953)tCt>tGt	p.S2651C	CENPE_ENST00000380026.3_Missense_Mutation_p.S2530C	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	2651	Globular autoinhibitory domain (By similarity).				blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity	p.S2614Y(1)		NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		TGATGGTAAAGACTTTGATCG	0.378													9	74					0	0	1	0	0	C	104030019	G	C	104030019	3	2	374	1	0	0	0	0	1	0	0	0	3252	942	33	4	161	4	CENPE	4	104030019	Missense_Mutation	SNP	G	TCGA-P5-A780-01A-12D-A32B-08		104030019	87124257	13	32460											
MAP1B	4131	broad.mit.edu	37	5	71493378	71493378	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr5:71493378G>A	ENST00000296755.7	+	5	4494	c.4196G>A	c.(4195-4197)cGc>cAc	p.R1399H		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1399						microtubule|microtubule associated complex	structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		TCTCCTTTACGCAGCCCGCCC	0.478													4	57					0	0	1	0	0	A	71493378	G	A	71493378	3	1	374	1	0	0	0	0	1	0	0	0	9278	1087	38	1	4214	1	MAP1B	5	71493378	Missense_Mutation	SNP	G	TCGA-P5-A780-01A-12D-A32B-08		71493378	109421882	14	32461											
PCDHB3	56132	broad.mit.edu	37	5	140481350	140481350	+	Missense_Mutation	SNP	C	C	G			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr5:140481350C>G	ENST00000231130.2	+	1	1117	c.1117C>G	c.(1117-1119)Cta>Gta	p.L373V	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN		373	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGTTTCTGATCTAGACTCTGG	0.458													11	42					0	0	1	0	0	G	140481350	C	G	140481350	3	3	374	1	0	0	0	0	1	0	0	0	11590	912	32	4	1119	4	PCDHB3	5	140481350	Missense_Mutation	SNP	C	TCGA-P5-A780-01A-12D-A32B-08	68987972	140481350	40433910	15	32462											
FHL5	9457	broad.mit.edu	37	6	97051578	97051578	+	Missense_Mutation	SNP	T	T	C			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr6:97051578T>C	ENST00000326771.2	+	3	469	c.89T>C	c.(88-90)gTt>gCt	p.V30A	FHL5_ENST00000541107.1_Missense_Mutation_p.V30A	NM_020482.4	NP_065228.4	Q5TD97	FHL5_HUMAN	four and a half LIM domains 5	30						nucleus	zinc ion binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|urinary_tract(1)	27		all_cancers(76;1.57e-07)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00266)|Colorectal(196;0.0341)|Lung NSC(302;0.204)		BRCA - Breast invasive adenocarcinoma(108;0.0948)		CCATACTGTGTTACATGTTAT	0.353													3	73					0	0	1	0	0	C	97051578	T	C	97051578	3	2	374	1	0	0	0	0	1	0	0	0	5914	1725	60	3	91	3	FHL5	6	97051578	Missense_Mutation	SNP	T	TCGA-P5-A780-01A-12D-A32B-08		97051578	74063489	16	32463											
ROS1	6098	broad.mit.edu	37	6	117681518	117681518	+	Missense_Mutation	SNP	C	C	A			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr6:117681518C>A	ENST00000368508.3	-	22	3630	c.3432G>T	c.(3430-3432)aaG>aaT	p.K1144N	GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Missense_Mutation_p.K1139N	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	1144	Fibronectin type-III 5.				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		ATGTTGTAGACTTTACAACGT	0.413			T	"GOPC, SDC4, SLC34A2, EZR, LRIG3"	"glioblastoma, NSCLC"								3	34					0.004672	0.00477468	1	1	0	A	117681518	C	A	117681518	3	1	374	1	0	0	0	0	1	0	0	0	13583	564	20	4	3699	4	ROS1	6	117681518	Missense_Mutation	SNP	C	TCGA-P5-A780-01A-12D-A32B-08	20629940	117681518	53433549	17	32464											
OPRM1	4988	broad.mit.edu	37	6	154567848	154567848	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr6:154567848G>A	ENST00000337049.4	+	4	1236	c.1186G>A	c.(1186-1188)Gcc>Acc	p.A396T	IPCEF1_ENST00000422970.2_Silent_p.G41G|IPCEF1_ENST00000265198.4_Silent_p.G40G|IPCEF1_ENST00000519344.1_Silent_p.G12G|IPCEF1_ENST00000367220.4_Silent_p.G41G	NM_001008503.1	NP_001008503.2	P35372	OPRM_HUMAN	opioid receptor, mu 1	0					behavior|negative regulation of cell proliferation|sensory perception	endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	mu-opioid receptor activity|protein binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	33		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;9.26e-11)|BRCA - Breast invasive adenocarcinoma(81;0.0154)	Alfentanil(DB00802)|Anileridine(DB00913)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dezocine(DB01209)|Diphenoxylate(DB01081)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Levallorphan(DB00504)|Levomethadyl Acetate(DB01227)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Methadyl Acetate(DB01433)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tramadol(DB00193)	AGTCAGCATGGCCCAGATCTT	0.433													34	55					0	0	1	0	0	A	154567848	G	A	154567848	3	1	374	1	0	0	0	0	1	0	0	0	10935	1203	42	2	2033	2	OPRM1	6	154567848	Missense_Mutation	SNP	G	TCGA-P5-A780-01A-12D-A32B-08	36886330	154567848	16547219	18	32465											
SERAC1	84947	broad.mit.edu	37	6	158576366	158576366	+	Frame_Shift_Del	DEL	T	T	-			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr6:158576366delT	ENST00000367102.2	-	3	250	c.109delA	c.(109-111)actfs	p.T37fs	SERAC1_ENST00000367101.1_Frame_Shift_Del_p.T37fs|SERAC1_ENST00000607000.1_Frame_Shift_Del_p.T37fs|SERAC1_ENST00000367104.3_Frame_Shift_Del_p.T37fs			Q96JX3	SRAC1_HUMAN	serine active site containing 1	37					GPI anchor metabolic process|intracellular protein transport	integral to membrane|intrinsic to endoplasmic reticulum membrane	binding|hydrolase activity, acting on ester bonds			endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	15		Breast(66;0.00519)|Ovarian(120;0.123)|Prostate(117;0.178)		OV - Ovarian serous cystadenocarcinoma(65;1.37e-18)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)		AGTGATCCAGTAAACTTTATT	0.318													2	4	---	---	---	---						-	158576366	T	-	158576366	7	5	374	1	0	1	0	1	0	0	0	0	14128	1638	57	0	1915	0	SERAC1	6	158576366	Frame_Shift_Del	DEL	T	TCGA-P5-A780-01A-12D-A32B-08	4008518	158576366	12538701	19	32466											
SAMD9	54809	broad.mit.edu	37	7	92734114	92734114	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr7:92734114C>T	ENST00000379958.2	-	3	1566	c.1297G>A	c.(1297-1299)Gaa>Aaa	p.E433K		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	433						cytoplasm				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			CATTTAATTTCCTTCAGGAAA	0.353													17	17					0	0	1	0	0	T	92734114	C	T	92734114	3	4	374	1	0	0	0	0	1	0	0	0	13878	864	30	2	3476	2	SAMD9	7	92734114	Missense_Mutation	SNP	C	TCGA-P5-A780-01A-12D-A32B-08		92734114	66404549	20	32467											
COL1A2	1278	broad.mit.edu	37	7	94041967	94041967	+	Silent	SNP	T	T	C			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr7:94041967T>C	ENST00000297268.6	+	25	1947	c.1476T>C	c.(1474-1476)atT>atC	p.I492I		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	492					axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	CTGGCAACATTGGATTCCCTG	0.498										HNSCC(75;0.22)			5	27					0	0	1	0	0	C	94041967	T	C	94041967	2	2	374	1	0	0	0	0	0	0	0	1	3701	1800	63	3		3	COL1A2	7	94041967	Silent	SNP	T	TCGA-P5-A780-01A-12D-A32B-08	1307853	94041967	65096696	21	32468											
NPTX2	4885	broad.mit.edu	37	7	98256572	98256572	+	Silent	SNP	C	C	T			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr7:98256572C>T	ENST00000265634.3	+	4	1149	c.984C>T	c.(982-984)gaC>gaT	p.D328D		NM_002523.2	NP_002514.1	P47972	NPTX2_HUMAN	neuronal pentraxin II	328	Pentaxin.				synaptic transmission	extracellular region	metal ion binding|sugar binding	p.D328D(1)		breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18	all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142)		STAD - Stomach adenocarcinoma(171;0.215)			CATTCCAGGACGGAGAGAAGC	0.642													4	54					0	0	1	0	0	T	98256572	C	T	98256572	2	4	374	1	0	0	0	0	0	0	0	1	10651	535	19	1		1	NPTX2	7	98256572	Silent	SNP	C	TCGA-P5-A780-01A-12D-A32B-08	4214605	98256572	60882091	22	32469											
PPP1R3A	5506	broad.mit.edu	37	7	113558563	113558563	+	Silent	SNP	T	T	C			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr7:113558563T>C	ENST00000284601.3	-	1	557	c.489A>G	c.(487-489)ttA>ttG	p.L163L		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	163	CBM21.				glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						GCCAGTCATCTAAAGACATTC	0.358													11	38					0	0	1	0	0	C	113558563	T	C	113558563	2	2	374	1	0	0	0	0	0	0	0	1	12420	1519	53	3		3	PPP1R3A	7	113558563	Silent	SNP	T	TCGA-P5-A780-01A-12D-A32B-08	15301991	113558563	45580100	23	32470											
RNF133	168433	broad.mit.edu	37	7	122338418	122338418	+	Missense_Mutation	SNP	G	G	C			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr7:122338418G>C	ENST00000340112.2	-	1	792	c.555C>G	c.(553-555)atC>atG	p.I185M	CADPS2_ENST00000334010.7_Intron|CADPS2_ENST00000313070.7_Intron|CADPS2_ENST00000449022.2_Intron|CADPS2_ENST00000412584.2_Intron	NM_139175.1	NP_631914.1	Q8WVZ7	RN133_HUMAN	ring finger protein 133	185						endoplasmic reticulum membrane|integral to membrane	ligase activity|zinc ion binding			NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	21						GATTCATCCAGATGATGTGCT	0.373													27	122					0	0	1	0	0	C	122338418	G	C	122338418	3	2	374	1	0	0	0	0	1	0	0	0	13491	932	33	4	579	4	RNF133	7	122338418	Missense_Mutation	SNP	G	TCGA-P5-A780-01A-12D-A32B-08	8779855	122338418	36800245	24	32471											
SPAM1	6677	broad.mit.edu	37	7	123594538	123594538	+	Missense_Mutation	SNP	G	G	A	rs150235912	byFrequency	TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr7:123594538G>A	ENST00000340011.5	+	3	1271	c.914G>A	c.(913-915)cGc>cAc	p.R305H	SPAM1_ENST00000402183.2_Missense_Mutation_p.R305H|SPAM1_ENST00000223028.7_Missense_Mutation_p.R305H|SPAM1_ENST00000439500.1_Missense_Mutation_p.R305H|SPAM1_ENST00000460182.1_Missense_Mutation_p.R305H	NM_003117.4	NP_003108.2	P38567	HYALP_HUMAN	sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding)	305					binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane	anchored to membrane|plasma membrane	hyalurononglucosaminidase activity			breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46					Hyaluronidase(DB00070)	GCATATACCCGCATAGTTTTT	0.388													4	41					0	0	1	0	0	A	123594538	G	A	123594538	3	1	374	1	0	0	0	0	1	0	0	0	15042	1087	38	1	916	1	SPAM1	7	123594538	Missense_Mutation	SNP	G	TCGA-P5-A780-01A-12D-A32B-08	1256120	123594538	35544125	25	32472											
OR2A25	392138	broad.mit.edu	37	7	143771700	143771700	+	Nonsense_Mutation	SNP	C	C	T			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr7:143771700C>T	ENST00000408898.2	+	1	426	c.388C>T	c.(388-390)Cga>Tga	p.R130*		NM_001004488.1	NP_001004488.1	A4D2G3	O2A25_HUMAN	olfactory receptor, family 2, subfamily A, member 25	130					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	24	Melanoma(164;0.0783)					CCACCCTCTCCGATATTCTAC	0.463													40	93					0	0	1	0	0	T	143771700	C	T	143771700	4	4	374	1	0	0	0	0	0	1	0	0	11026	644	23	1	390	1	OR2A25	7	143771700	Nonsense_Mutation	SNP	C	TCGA-P5-A780-01A-12D-A32B-08	20177162	143771700	15366963	26	32473											
MSRA	4482	broad.mit.edu	37	8	9912035	9912035	+	Silent	SNP	G	G	C			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr8:9912035G>C	ENST00000317173.4	+	1	258	c.9G>C	c.(7-9)tcG>tcC	p.S3S	MSRA_ENST00000518255.1_Silent_p.S3S|MSRA_ENST00000441698.2_Silent_p.S3S	NM_012331.3	NP_036463.1	Q9UJ68	MSRA_HUMAN	methionine sulfoxide reductase A	3					methionine metabolic process|protein modification process|response to oxidative stress	mitochondrion|nucleus	peptide-methionine-(S)-S-oxide reductase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|lung(4)	8		Myeloproliferative disorder(644;0.178)			L-Methionine(DB00134)	CCATGCTCTCGGCCACCCGGA	0.726													3	38					0	0	1	0	0	C	9912035	G	C	9912035	2	2	374	1	0	0	0	0	0	0	0	1	9935	1103	39	5		5	MSRA	8	9912035	Silent	SNP	G	TCGA-P5-A780-01A-12D-A32B-08		9912035	136451987	27	32474											
ADAM7	8756	broad.mit.edu	37	8	24324409	24324409	+	Missense_Mutation	SNP	C	C	A			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr8:24324409C>A	ENST00000175238.6	+	6	570	c.487C>A	c.(487-489)Ccg>Acg	p.P163T	ADAM7_ENST00000441335.2_Missense_Mutation_p.P163T|ADAM7_ENST00000380789.1_Missense_Mutation_p.P163T|RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN	ADAM metallopeptidase domain 7	163					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		CCTGAGGGTGCCGTATGGTGC	0.393													4	113					1	1	1	1	0	A	24324409	C	A	24324409	3	1	374	1	0	0	0	0	1	0	0	0	250	739	26	5	509	5	ADAM7	8	24324409	Missense_Mutation	SNP	C	TCGA-P5-A780-01A-12D-A32B-08	14412374	24324409	122039613	28	32475											
ANK1	286	broad.mit.edu	37	8	41575698	41575698	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr8:41575698C>T	ENST00000396942.1	-	11	1215	c.1132G>A	c.(1132-1134)Gcc>Acc	p.A378T	ANK1_ENST00000289734.7_Missense_Mutation_p.A378T|ANK1_ENST00000265709.8_Missense_Mutation_p.A411T|ANK1_ENST00000379758.2_Missense_Mutation_p.A378T|ANK1_ENST00000347528.4_Missense_Mutation_p.A378T|ANK1_ENST00000352337.4_Missense_Mutation_p.A378T|ANK1_ENST00000396945.1_Missense_Mutation_p.A378T			P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	378	89 kDa domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			TTTTTGCAGGCGATGTGTAAG	0.592													4	63					0	0	1	0	0	T	41575698	C	T	41575698	3	4	374	1	0	0	0	0	1	0	0	0	616	768	27	1	4995	1	ANK1	8	41575698	Missense_Mutation	SNP	C	TCGA-P5-A780-01A-12D-A32B-08	17251289	41575698	104788324	29	32476											
UBAP2	55833	broad.mit.edu	37	9	33933502	33933502	+	Silent	SNP	G	G	A			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr9:33933502G>A	ENST00000379238.1	-	18	2211	c.2094C>T	c.(2092-2094)ctC>ctT	p.L698L	UBAP2_ENST00000360802.1_Silent_p.L698L|UBAP2_ENST00000539807.1_Silent_p.L453L|UBAP2_ENST00000449054.1_Silent_p.L698L|UBAP2_ENST00000379239.4_Silent_p.L431L|UBAP2_ENST00000418786.2_Silent_p.L645L			Q5T6F2	UBAP2_HUMAN	ubiquitin associated protein 2	698										endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(13)|ovary(3)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)		TAAGCTGAGAGAGAGGGCTGC	0.592													7	20					0	0	1	0	0	A	33933502	G	A	33933502	2	1	374	1	0	0	0	0	0	0	0	1	16898	929	33	2		2	UBAP2	9	33933502	Silent	SNP	G	TCGA-P5-A780-01A-12D-A32B-08		33933502	107279929	30	32477											
RGS3	5998	broad.mit.edu	37	9	116276827	116276827	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr9:116276827G>A	ENST00000374140.2	+	16	1776	c.1567G>A	c.(1567-1569)Ggg>Agg	p.G523R	RGS3_ENST00000394646.3_Missense_Mutation_p.G242R|RGS3_ENST00000374136.1_Missense_Mutation_p.G149R|RGS3_ENST00000317613.6_Missense_Mutation_p.G411R|RGS3_ENST00000350696.5_Missense_Mutation_p.G523R|RGS3_ENST00000343817.5_Missense_Mutation_p.G242R	NM_001282923.1|NM_144488.4	NP_001269852.1|NP_652759.3	P49796	RGS3_HUMAN	regulator of G-protein signaling 3	523					inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	cytosol|nucleus|plasma membrane	GTPase activator activity|signal transducer activity			cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						GAAGGGCCACGGGAACTACCA	0.572													9	63					0	0	1	0	0	A	116276827	G	A	116276827	3	1	374	1	0	0	0	0	1	0	0	0	13356	1116	39	1	1766	1	RGS3	9	116276827	Missense_Mutation	SNP	G	TCGA-P5-A780-01A-12D-A32B-08	82343325	116276827	24936604	31	32478											
GOLGA2	2801	broad.mit.edu	37	9	131020288	131020288	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr9:131020288C>T	ENST00000421699.2	-	22	2410	c.2398G>A	c.(2398-2400)Gcc>Acc	p.A800T	GOLGA2_ENST00000609374.1_Missense_Mutation_p.A788T	NM_004486.4	NP_004477.3	Q08379	GOGA2_HUMAN	golgin A2	800						Golgi cisterna membrane	protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34						CCCTGCAGGGCCCGGTGGGTC	0.677													8	36					0	0	1	0	0	T	131020288	C	T	131020288	3	4	374	1	0	0	0	0	1	0	0	0	6594	739	26	2	630	2	GOLGA2	9	131020288	Missense_Mutation	SNP	C	TCGA-P5-A780-01A-12D-A32B-08	14743461	131020288	10193143	32	32479											
KCNT1	57582	broad.mit.edu	37	9	138667250	138667250	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr9:138667250C>T	ENST00000298480.5	+	20	2412	c.2338C>T	c.(2338-2340)Cgg>Tgg	p.R780W	KCNT1_ENST00000263604.3_Missense_Mutation_p.R761W|KCNT1_ENST00000486577.2_Missense_Mutation_p.R739W|KCNT1_ENST00000488444.2_Missense_Mutation_p.R761W|KCNT1_ENST00000490355.2_Missense_Mutation_p.R759W|KCNT1_ENST00000491806.2_Missense_Mutation_p.R747W|KCNT1_ENST00000487664.1_Missense_Mutation_p.R735W|KCNT1_ENST00000371757.2_Missense_Mutation_p.R780W			B7ZVY4	B7ZVY4_HUMAN	potassium channel, subfamily T, member 1	780						membrane	binding|calcium-activated potassium channel activity	p.R780R(1)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		CTGCTGCCTGCGGCTGGACAA	0.642													6	64					0	0	1	0	0	T	138667250	C	T	138667250	3	4	374	1	0	0	0	0	1	0	0	0	8135	759	27	1	2416	1	KCNT1	9	138667250	Missense_Mutation	SNP	C	TCGA-P5-A780-01A-12D-A32B-08	7646962	138667250	2546181	33	32480											
ARHGAP21	57584	broad.mit.edu	37	10	24890933	24890933	+	Nonsense_Mutation	SNP	G	G	A			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr10:24890933G>A	ENST00000396432.2	-	13	3307	c.2821C>T	c.(2821-2823)Cga>Tga	p.R941*	ARHGAP21_ENST00000493154.1_5'UTR|ARHGAP21_ENST00000320481.6_Nonsense_Mutation_p.R728*	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	940	Interaction with ARF1 and ARF6.|PH.				signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						ACAAGGGGTCGGAAATGAAGC	0.478													39	29					0	0	1	0	0	A	24890933	G	A	24890933	4	1	374	1	0	0	0	0	0	1	0	0	868	1124	39	1	3111	1	ARHGAP21	10	24890933	Nonsense_Mutation	SNP	G	TCGA-P5-A780-01A-12D-A32B-08		24890933	110643814	34	32481											
MYOF	26509	broad.mit.edu	37	10	95111508	95111508	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr10:95111508C>T	ENST00000371501.4	-	33	3699	c.3577G>A	c.(3577-3579)Gat>Aat	p.D1193N	MYOF_ENST00000359263.4_Missense_Mutation_p.D1193N|MYOF_ENST00000371502.4_Missense_Mutation_p.D1193N|MYOF_ENST00000358334.5_Missense_Mutation_p.D1180N			Q9NZM1	MYOF_HUMAN	myoferlin	1193	C2 4.				blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						TCAACTTCATCGAATATAATT	0.413													10	41					0	0	1	0	0	T	95111508	C	T	95111508	3	4	374	1	0	0	0	0	1	0	0	0	10137	884	31	1	2696	1	MYOF	10	95111508	Missense_Mutation	SNP	C	TCGA-P5-A780-01A-12D-A32B-08	70220575	95111508	40423239	35	32482											
HPSE2	60495	broad.mit.edu	37	10	100374723	100374723	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr10:100374723G>A	ENST00000370552.3	-	9	1317	c.1258C>T	c.(1258-1260)Cgg>Tgg	p.R420W	HPSE2_ENST00000404542.1_Missense_Mutation_p.R308W|HPSE2_ENST00000370549.1_Missense_Mutation_p.R362W|HPSE2_ENST00000370546.1_Missense_Mutation_p.R420W	NM_021828.4	NP_068600.4	Q8WWQ2	HPSE2_HUMAN	heparanase 2	420					carbohydrate metabolic process	intracellular|membrane	cation binding|heparanase activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	40				Epithelial(162;1.8e-09)|all cancers(201;4.72e-07)		AATGAGTGCCGTATCACGACA	0.398													13	78					0	0	1	0	0	A	100374723	G	A	100374723	3	1	374	1	0	0	0	0	1	0	0	0	7386	1144	40	1	574	1	HPSE2	10	100374723	Missense_Mutation	SNP	G	TCGA-P5-A780-01A-12D-A32B-08	5263215	100374723	35160024	36	32483											
PRDM10	56980	broad.mit.edu	37	11	129784846	129784846	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr11:129784846G>A	ENST00000358825.5	-	18	2837	c.2606C>T	c.(2605-2607)aCa>aTa	p.T869I	PRDM10_ENST00000528746.1_Missense_Mutation_p.T839I|PRDM10_ENST00000423662.2_Missense_Mutation_p.T783I|PRDM10_ENST00000304538.6_Missense_Mutation_p.T779I|PRDM10_ENST00000360871.3_Missense_Mutation_p.T865I|PRDM10_ENST00000526082.1_Missense_Mutation_p.T783I	NM_020228.2	NP_064613.2	Q9NQV6	PRD10_HUMAN	PR domain containing 10	869	Thr-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)		CGTCAGTGGTGTGTGTATGGT	0.512													42	71					0	0	1	0	0	A	129784846	G	A	129784846	3	1	374	1	0	0	0	0	1	0	0	0	12503	1377	48	2	896	2	PRDM10	11	129784846	Missense_Mutation	SNP	G	TCGA-P5-A780-01A-12D-A32B-08		129784846	5221670	37	32484											
STYK1	55359	broad.mit.edu	37	12	10786670	10786670	+	Missense_Mutation	SNP	T	T	C			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr12:10786670T>C	ENST00000075503.3	-	4	626	c.106A>G	c.(106-108)Atc>Gtc	p.I36V		NM_018423.2	NP_060893.2	Q6J9G0	STYK1_HUMAN	serine/threonine/tyrosine kinase 1	36						integral to membrane|plasma membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	26						ATGAGGAAGATAGTAACCAAC	0.453										HNSCC(73;0.22)			83	123					0	0	1	0	0	C	10786670	T	C	10786670	3	2	374	1	0	0	0	0	1	0	0	0	15415	1406	49	3	1194	3	STYK1	12	10786670	Missense_Mutation	SNP	T	TCGA-P5-A780-01A-12D-A32B-08		10786670	123065225	38	32485											
BCAT1	586	broad.mit.edu	37	12	24995135	24995135	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr12:24995135G>A	ENST00000261192.7	-	7	1224	c.698C>T	c.(697-699)gCc>gTc	p.A233V	BCAT1_ENST00000539282.1_Missense_Mutation_p.A245V|BCAT1_ENST00000539780.1_Missense_Mutation_p.A196V|BCAT1_ENST00000544418.1_5'UTR|BCAT1_ENST00000342945.5_Missense_Mutation_p.A172V|BCAT1_ENST00000538118.1_Missense_Mutation_p.A232V	NM_001178091.1|NM_005504.6	NP_001171562.1|NP_005495.2	P54687	BCAT1_HUMAN	branched chain amino-acid transaminase 1, cytosolic	233					branched chain family amino acid biosynthetic process|branched chain family amino acid catabolic process|cell proliferation|G1/S transition of mitotic cell cycle	cytosol	L-isoleucine transaminase activity|L-leucine transaminase activity|L-valine transaminase activity			breast(1)|large_intestine(1)|lung(3)|prostate(2)	7	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Ovarian(17;0.107)|Colorectal(261;0.196)				Gabapentin(DB00996)|L-Glutamic Acid(DB00142)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|L-Valine(DB00161)|Pyridoxal Phosphate(DB00114)	TTCACATTGGGCAAAAAGAGA	0.433													3	39					0	0	1	0	0	A	24995135	G	A	24995135	3	1	374	1	0	0	0	0	1	0	0	0	1352	1203	42	2	482	2	BCAT1	12	24995135	Missense_Mutation	SNP	G	TCGA-P5-A780-01A-12D-A32B-08	14208465	24995135	108856760	39	32486											
EIF4B	1975	broad.mit.edu	37	12	53412741	53412741	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr12:53412741C>T	ENST00000262056.9	+	3	637	c.311C>T	c.(310-312)cCc>cTc	p.P104L	EIF4B_ENST00000420463.3_Missense_Mutation_p.P104L|EIF4B_ENST00000416762.3_Missense_Mutation_p.P104L|EIF4B_ENST00000551527.1_3'UTR|RP11-983P16.4_ENST00000552905.1_RNA|RP11-983P16.4_ENST00000549388.1_RNA	NM_001417.4	NP_001408.2	P23588	IF4B_HUMAN	eukaryotic translation initiation factor 4B	104	RRM.				insulin receptor signaling pathway|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	nucleotide binding|translation initiation factor activity			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)	22						GGAAACCTACCCTATGATGTT	0.423													8	48					0	0	1	0	0	T	53412741	C	T	53412741	3	4	374	1	0	0	0	0	1	0	0	0	5055	623	22	2	321	2	EIF4B	12	53412741	Missense_Mutation	SNP	C	TCGA-P5-A780-01A-12D-A32B-08	28417606	53412741	80439154	40	32487											
SDR9C7	121214	broad.mit.edu	37	12	57323245	57323245	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr12:57323245C>T	ENST00000293502.1	-	3	796	c.653G>A	c.(652-654)cGc>cAc	p.R218H		NM_148897.2	NP_683695.1	Q8NEX9	DR9C7_HUMAN	short chain dehydrogenase/reductase family 9C, member 7	218						cytoplasm	binding|oxidoreductase activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|pancreas(1)	7						CTTTCGCATGCGTGACTCCAG	0.557													25	63					0	0	1	0	0	T	57323245	C	T	57323245	3	4	374	1	0	0	0	0	1	0	0	0	14028	768	27	1	296	1	SDR9C7	12	57323245	Missense_Mutation	SNP	C	TCGA-P5-A780-01A-12D-A32B-08	3910504	57323245	76528650	41	32488											
MYCBP2	23077	broad.mit.edu	37	13	77663122	77663122	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr13:77663122G>A	ENST00000407578.2	-	61	10836	c.10570C>T	c.(10570-10572)Cgg>Tgg	p.R3524W	MYCBP2-AS1_ENST00000593933.1_RNA|MYCBP2_ENST00000357337.6_Missense_Mutation_p.R3486W|MYCBP2_ENST00000544440.2_Missense_Mutation_p.R3486W	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	3486					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		GAGATTAGCCGAGAAAGCTCA	0.363													8	67					0	0	1	0	0	A	77663122	G	A	77663122	3	1	374	1	0	0	0	0	1	0	0	0	10066	1057	37	1	3558	1	MYCBP2	13	77663122	Missense_Mutation	SNP	G	TCGA-P5-A780-01A-12D-A32B-08		77663122	37506756	42	32489											
TOX4	9878	broad.mit.edu	37	14	21964706	21964706	+	Missense_Mutation	SNP	A	A	G			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr14:21964706A>G	ENST00000405508.1	+	10	2084	c.1808A>G	c.(1807-1809)gAt>gGt	p.D603G	TOX4_ENST00000262709.3_Missense_Mutation_p.D603G|TOX4_ENST00000448790.2_Missense_Mutation_p.D580G			O94842	TOX4_HUMAN	TOX high mobility group box family member 4	603						chromatin|nucleus|PTW/PP1 phosphatase complex	DNA binding|protein binding			large_intestine(8)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(95;0.000465)		Epithelial(56;6.61e-06)|all cancers(55;5.15e-05)	GBM - Glioblastoma multiforme(265;0.0149)		TCTCTTAGGGATGTATTCTTG	0.393													6	77					0	0	1	0	0	G	21964706	A	G	21964706	3	3	374	1	0	0	0	0	1	0	0	0	16441	333	12	3	1842	3	TOX4	14	21964706	Missense_Mutation	SNP	A	TCGA-P5-A780-01A-12D-A32B-08		21964706	85384834	43	32490											
ADCY4	196883	broad.mit.edu	37	14	24793576	24793576	+	Silent	SNP	C	C	T	rs141339113		TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr14:24793576C>T	ENST00000310677.4	-	16	1958	c.1845G>A	c.(1843-1845)acG>acA	p.T615T	ADCY4_ENST00000418030.2_Silent_p.T615T|ADCY4_ENST00000554068.2_Silent_p.T615T|ADCY4_ENST00000396747.3_Silent_p.T308T	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	615					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding|protein binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(265;0.0192)		TGATGCTATACGTGATGGCCA	0.567													11	63					0	0	1	0	0	T	24793576	C	T	24793576	2	4	374	1	0	0	0	0	0	0	0	1	295	523	19	1		1	ADCY4	14	24793576	Silent	SNP	C	TCGA-P5-A780-01A-12D-A32B-08	2828870	24793576	82555964	44	32491											
DYNC1H1	1778	broad.mit.edu	37	14	102510228	102510228	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr14:102510228C>T	ENST00000360184.4	+	70	12694	c.12530C>T	c.(12529-12531)gCc>gTc	p.A4177V	RP11-1017G21.4_ENST00000557242.1_RNA|RP11-1017G21.4_ENST00000553701.1_RNA|RP11-1017G21.4_ENST00000557551.1_RNA	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	4177	AAA 6 (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						AACGAGCGTGCCCGCTTGTAC	0.507													3	50					0	0	1	0	0	T	102510228	C	T	102510228	3	4	374	1	0	0	0	0	1	0	0	0	4867	739	26	2	12808	2	DYNC1H1	14	102510228	Missense_Mutation	SNP	C	TCGA-P5-A780-01A-12D-A32B-08	77716652	102510228	4839312	45	32492											
ANXA2	302	broad.mit.edu	37	15	60644017	60644017	+	Splice_Site	SNP	T	T	C			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr15:60644017T>C	ENST00000396024.3	-	11	843	c.684A>G	c.(682-684)gtA>gtG	p.V228V	ANXA2_ENST00000451270.2_Splice_Site_p.V228V|ANXA2_ENST00000421017.2_Splice_Site_p.V228V|ANXA2_ENST00000332680.4_Splice_Site_p.V246V	NM_001136015.2	NP_001129487.1	P07355	ANXA2_HUMAN	annexin A2	228					angiogenesis|positive regulation of vesicle fusion|skeletal system development	basement membrane|melanosome|midbody|soluble fraction	calcium ion binding|calcium-dependent phospholipid binding|cytoskeletal protein binding|phospholipase inhibitor activity			kidney(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)	9					Alteplase(DB00009)|Anistreplase(DB00029)|Tenecteplase(DB00031)	ACCTATCAAATACTGAGGAAA	0.388													6	68					0	0	1	0	0	C	60644017	T	C	60644017	5	2	374	1	0	0	0	0	0	0	1	0	712	1420	49	3	351	3	ANXA2	15	60644017	Splice_Site	SNP	T	TCGA-P5-A780-01A-12D-A32B-08		60644017	41887375	46	32493											
ALOX15	246	broad.mit.edu	37	17	4534928	4534928	+	Silent	SNP	C	C	T			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr17:4534928C>T	ENST00000570836.1	-	15	2052	c.1956G>A	c.(1954-1956)cgG>cgA	p.R652R	ALOX15_ENST00000545513.1_Silent_p.R674R|ALOX15_ENST00000574640.1_Silent_p.R613R|ALOX15_ENST00000293761.3_Silent_p.R652R			P16050	LOX15_HUMAN	arachidonate 15-lipoxygenase	652	Lipoxygenase.				inflammatory response|leukotriene biosynthetic process	nucleus	arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(5)	20				READ - Rectum adenocarcinoma(115;0.0327)	Ciclopirox(DB01188)|Masoprocol(DB00179)|Zileuton(DB00744)	CCACGCTGGGCCGCAGGTACT	0.552													17	92					0	0	1	0	0	T	4534928	C	T	4534928	2	4	374	1	0	0	0	0	0	0	0	1	534	726	26	2		2	ALOX15	17	4534928	Silent	SNP	C	TCGA-P5-A780-01A-12D-A32B-08		4534928	76660282	47	32494											
TP53	7157	broad.mit.edu	37	17	7578442	7578442	+	Missense_Mutation	SNP	T	T	C	rs148924904		TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr17:7578442T>C	ENST00000420246.2	-	5	620	c.488A>G	c.(487-489)tAc>tGc	p.Y163C	TP53_ENST00000269305.4_Missense_Mutation_p.Y163C|TP53_ENST00000359597.4_Missense_Mutation_p.Y163C|TP53_ENST00000455263.2_Missense_Mutation_p.Y163C|TP53_ENST00000445888.2_Missense_Mutation_p.Y163C|TP53_ENST00000413465.2_Missense_Mutation_p.Y163C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	163	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.Y163C(134)|p.Y70C(12)|p.Y31C(12)|p.0?(8)|p.Y163S(7)|p.V157_C176del20(1)|p.Y31S(1)|p.Y163fs*1(1)|p.Y70S(1)|p.Y163_Q165delYKQ(1)|p.P151_V173del23(1)|p.Y163fs*14(1)|p.S149fs*72(1)|p.A159_Q167delAMAIYKQSQ(1)|p.I162_Y163delIY(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)		TGACTGCTTGTAGATGGCCAT	0.622		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)			43	18					0	0	1	0	0	C	7578442	T	C	7578442	3	2	374	1	0	0	0	0	1	0	0	0	16442	1638	57	3	810	3	TP53	17	7578442	Missense_Mutation	SNP	T	TCGA-P5-A780-01A-12D-A32B-08	3043514	7578442	73616768	48	32495											
CCDC40	55036	broad.mit.edu	37	17	78055796	78055796	+	Missense_Mutation	SNP	A	A	G			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr17:78055796A>G	ENST00000397545.4	+	12	1955	c.1928A>G	c.(1927-1929)aAc>aGc	p.N643S	CCDC40_ENST00000374877.3_Missense_Mutation_p.N643S	NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	643					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			ATGACCTCCAACAAGACCACC	0.612													5	35					0	0	1	0	0	G	78055796	A	G	78055796	3	3	374	1	0	0	0	0	1	0	0	0	2831	43	2	3	1974	3	CCDC40	17	78055796	Missense_Mutation	SNP	A	TCGA-P5-A780-01A-12D-A32B-08	70477354	78055796	3139414	49	32496											
SERPINB7	8710	broad.mit.edu	37	18	61468117	61468117	+	Silent	SNP	C	C	T			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr18:61468117C>T	ENST00000398019.2	+	7	940	c.615C>T	c.(613-615)gtC>gtT	p.V205V	SERPINB7_ENST00000336429.2_Silent_p.V205V|SERPINB7_ENST00000546027.1_Silent_p.V205V|SERPINB7_ENST00000540675.1_Silent_p.V188V	NM_003784.3	NP_003775.1	O75635	SPB7_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 7	205					regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	27		Esophageal squamous(42;0.129)				GGAAGGCAGTCGCCATGATGC	0.368													14	78					0	0	1	0	0	T	61468117	C	T	61468117	2	4	374	1	0	0	0	0	0	0	0	1	14160	871	31	1		1	SERPINB7	18	61468117	Silent	SNP	C	TCGA-P5-A780-01A-12D-A32B-08		61468117	16609131	50	32497											
TSHZ1	10194	broad.mit.edu	37	18	72999831	72999831	+	Silent	SNP	C	C	T			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr18:72999831C>T	ENST00000322038.5	+	2	2918	c.2334C>T	c.(2332-2334)agC>agT	p.S778S	TSHZ1_ENST00000580243.1_Silent_p.S823S	NM_005786.5	NP_005777.3	Q6ZSZ6	TSH1_HUMAN	teashirt zinc finger homeobox 1	823						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		TGGTGTCCAGCGTGGCTGATT	0.572													4	80					0	0	1	0	0	T	72999831	C	T	72999831	2	4	374	1	0	0	0	0	0	0	0	1	16684	767	27	1		1	TSHZ1	18	72999831	Silent	SNP	C	TCGA-P5-A780-01A-12D-A32B-08	11531714	72999831	5077417	51	32498											
ZNF676	163223	broad.mit.edu	37	19	22379553	22379553	+	Translation_Start_Site	SNP	T	T	C			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr19:22379553T>C	ENST00000397121.2	-	0	200					NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				CAAACACATATATTTACCAAT	0.408													9	76					0	0	1	0	0	C	22379553	T	C	22379553	1	2	374	1	0	0	0	0	0	0	0	0	18140	1421	49	3		3	ZNF676	19	22379553	Translation_Start_Site	SNP	T	TCGA-P5-A780-01A-12D-A32B-08		22379553	36749430	52	32499											
ZNF681	148213	broad.mit.edu	37	19	23927680	23927680	+	Silent	SNP	T	T	C			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr19:23927680T>C	ENST00000402377.3	-	4	813	c.672A>G	c.(670-672)aaA>aaG	p.K224K	ZNF681_ENST00000395385.3_Silent_p.K155K	NM_138286.2	NP_612143.2	Q96N22	ZN681_HUMAN	zinc finger protein 681	224				K -> R (in Ref. 1; BAG53769).	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3)	21		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				ATATGTACGATTTCTCTCCAA	0.328													9	15					0	0	1	0	0	C	23927680	T	C	23927680	2	2	374	1	0	0	0	0	0	0	0	1	18144	1490	52	3		3	ZNF681	19	23927680	Silent	SNP	T	TCGA-P5-A780-01A-12D-A32B-08	1548127	23927680	35201303	53	32500											
PRKD2	25865	broad.mit.edu	37	19	47219549	47219549	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr19:47219549C>T	ENST00000433867.1	-	2	556	c.79G>A	c.(79-81)Gag>Aag	p.E27K	PRKD2_ENST00000601806.1_Intron|PRKD2_ENST00000291281.4_Missense_Mutation_p.E27K|PRKD2_ENST00000595515.1_Missense_Mutation_p.E27K	NM_001079880.1|NM_001079881.1|NM_016457.4	NP_001073349|NP_001073350|NP_057541	Q9BZL6	KPCD2_HUMAN	protein kinase D2	27					cell death|intracellular signal transduction|positive regulation of transcription from RNA polymerase II promoter|protein autophosphorylation|T cell receptor signaling pathway	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein kinase C activity			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	41		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353)		GACTGCAGCTCTAGGCCGCCG	0.741													4	30					0	0	1	0	0	T	47219549	C	T	47219549	3	4	374	1	0	0	0	0	1	0	0	0	12571	922	32	2	2629	2	PRKD2	19	47219549	Missense_Mutation	SNP	C	TCGA-P5-A780-01A-12D-A32B-08	23291869	47219549	11909434	54	32501											
EPS8L1	54869	broad.mit.edu	37	19	55594964	55594964	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr19:55594964G>A	ENST00000586329.1	+	10	1557	c.1379G>A	c.(1378-1380)cGa>cAa	p.R460Q	EPS8L1_ENST00000540810.1_Intron|EPS8L1_ENST00000201647.6_Intron|EPS8L1_ENST00000588359.1_Missense_Mutation_p.R132Q|EPS8L1_ENST00000592824.1_Intron|EPS8L1_ENST00000245618.5_Intron			Q8TE68	ES8L1_HUMAN	EPS8-like 1	452						cytoplasm				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|prostate(1)	12			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		CGCCTGACCCGACTGTCTTAC	0.716													3	3					0	0	1	0	0	A	55594964	G	A	55594964	3	1	374	1	0	0	0	0	1	0	0	0	5223	1073	37	1		1	EPS8L1	19	55594964	Missense_Mutation	SNP	G	TCGA-P5-A780-01A-12D-A32B-08	8375415	55594964	3534019	55	32502											
SRXN1	140809	broad.mit.edu	37	20	629365	629365	+	Missense_Mutation	SNP	A	A	C			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr20:629365A>C	ENST00000381962.3	-	2	591	c.407T>G	c.(406-408)tTg>tGg	p.L136W	RP5-850E9.3_ENST00000488788.2_3'UTR	NM_080725.1	NP_542763.1	Q9BYN0	SRXN1_HUMAN	sulfiredoxin 1	136					response to oxidative stress	cytosol	antioxidant activity|ATP binding|DNA binding|sulfiredoxin activity			large_intestine(1)|lung(2)|ovary(1)|prostate(1)	5						CTGCTACTGCAAGTCTGGTGT	0.612													9	134					0	0	1	0	0	C	629365	A	C	629365	3	2	374	1	0	0	0	0	1	0	0	0	15229	131	5	5	10	5	SRXN1	20	629365	Missense_Mutation	SNP	A	TCGA-P5-A780-01A-12D-A32B-08		629365	62396155	56	32503											
CBLN4	140689	broad.mit.edu	37	20	54573643	54573643	+	Silent	SNP	C	C	T			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr20:54573643C>T	ENST00000064571.2	-	3	1876	c.576G>A	c.(574-576)acG>acA	p.T192T		NM_080617.5	NP_542184.1	Q9NTU7	CBLN4_HUMAN	cerebellin 4 precursor	192	C1q.					cell junction|extracellular region|synapse				endometrium(2)|large_intestine(1)|lung(10)|ovary(3)|pancreas(1)	17			Colorectal(105;0.202)			AGCCAGAAAACGTGGAATACT	0.443													15	90					0	0	1	0	0	T	54573643	C	T	54573643	2	4	374	1	0	0	0	0	0	0	0	1	2725	523	19	1		1	CBLN4	20	54573643	Silent	SNP	C	TCGA-P5-A780-01A-12D-A32B-08	53944278	54573643	8451877	57	32504											
DRG1	4733	broad.mit.edu	37	22	31796608	31796608	+	Missense_Mutation	SNP	G	G	T			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr22:31796608G>T	ENST00000331457.4	+	2	206	c.45G>T	c.(43-45)atG>atT	p.M15I	DRG1_ENST00000433341.1_3'UTR	NM_004147.3	NP_004138.1	Q9Y295	DRG1_HUMAN	developmentally regulated GTP binding protein 1	15					multicellular organismal development|transcription, DNA-dependent	cytoplasm|intermediate filament cytoskeleton|nucleus	GTP binding|transcription factor binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|urinary_tract(1)	11						CCTTTTAGATGGCTCGGACTC	0.468													4	55					2.56e-06	2.64533e-06	1	1	0	T	31796608	G	T	31796608	3	4	374	1	0	0	0	0	1	0	0	0	4787	1348	47	5	51	5	DRG1	22	31796608	Missense_Mutation	SNP	G	TCGA-P5-A780-01A-12D-A32B-08		31796608	19507958	58	32505											
PARVB	29780	broad.mit.edu	37	22	44514963	44514963	+	Missense_Mutation	SNP	A	A	G			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr22:44514963A>G	ENST00000338758.7	+	4	382	c.319A>G	c.(319-321)Att>Gtt	p.I107V	PARVB_ENST00000404989.1_Missense_Mutation_p.I70V|PARVB_ENST00000406477.3_Missense_Mutation_p.I140V	NM_013327.4	NP_037459.2	Q9HBI1	PARVB_HUMAN	parvin, beta		CH 1.				cell adhesion|cell junction assembly	cytoskeleton|cytosol|focal adhesion	actin binding			NS(1)|breast(1)|endometrium(3)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	25		Ovarian(80;0.0246)|all_neural(38;0.0423)				GGAGAGGATCATTGTGAAGCA	0.592													19	30					0	0	1	0	0	G	44514963	A	G	44514963	3	3	374	1	0	0	0	0	1	0	0	0	11516	217	8	3	552	3	PARVB	22	44514963	Missense_Mutation	SNP	A	TCGA-P5-A780-01A-12D-A32B-08	12718355	44514963	6789603	59	32506											
WWC3	55841	broad.mit.edu	37	X	10107547	10107547	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chrX:10107547G>A	ENST00000380861.4	+	22	3570	c.3179G>A	c.(3178-3180)aGc>aAc	p.S1060N	WWC3_ENST00000454666.1_Missense_Mutation_p.S1060N	NM_015691.3	NP_056506.2	Q9ULE0	WWC3_HUMAN	WWC family member 3	1060										NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						CGTGGGCAGAGCCACAAAGAG	0.582													16	73					0	0	1	0	0	A	10107547	G	A	10107547	3	1	374	1	0	0	0	0	1	0	0	0	17473	971	34	2	3261	2	WWC3	23	10107547	Missense_Mutation	SNP	G	TCGA-P5-A780-01A-12D-A32B-08		10107547	145163013	60	32507											
MID1	4281	broad.mit.edu	37	X	10442675	10442675	+	Missense_Mutation	SNP	C	C	G			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chrX:10442675C>G	ENST00000317552.4	-	6	1529	c.1129G>C	c.(1129-1131)Gat>Cat	p.D377H	MID1_ENST00000380779.1_Missense_Mutation_p.D377H|MID1_ENST00000380780.1_Missense_Mutation_p.D377H|MID1_ENST00000380782.2_Missense_Mutation_p.D377H|MID1_ENST00000453318.2_Missense_Mutation_p.D377H|MID1_ENST00000380785.1_Missense_Mutation_p.D377H|MID1_ENST00000380787.1_Missense_Mutation_p.D377H	NM_000381.3|NM_033289.1	NP_000372.1|NP_150631.1	O15344	TRI18_HUMAN	midline 1 (Opitz/BBB syndrome)	377	COS.				microtubule cytoskeleton organization|pattern specification process|positive regulation of stress-activated MAPK cascade	cytoplasm|microtubule|microtubule associated complex|spindle	ligase activity|ubiquitin protein ligase binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	26						GTAAGGTAATCCAGACATTCT	0.383													29	50					0	0	1	0	0	G	10442675	C	G	10442675	3	3	374	1	0	0	0	0	1	0	0	0	9624	855	30	5	894	5	MID1	23	10442675	Missense_Mutation	SNP	C	TCGA-P5-A780-01A-12D-A32B-08	335128	10442675	144827885	61	32508											
MSN	4478	broad.mit.edu	37	X	64947733	64947733	+	Missense_Mutation	SNP	A	A	G			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chrX:64947733A>G	ENST00000360270.5	+	3	326	c.154A>G	c.(154-156)Act>Gct	p.T52A		NM_002444.2	NP_002435.1	P26038	MOES_HUMAN	moesin	52	FERM.				leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking	apical plasma membrane|cytoskeleton|extrinsic to membrane|microvillus membrane|nucleolus	cell adhesion molecule binding|receptor binding|structural constituent of cytoskeleton		MSN/ALK(6)	breast(4)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	43						GTACCAGGACACTAAAGGTTT	0.403			T	ALK	ALCL								22	25					0	0	1	0	0	G	64947733	A	G	64947733	3	3	374	1	0	0	0	0	1	0	0	0	9933	159	6	3	164	3	MSN	23	64947733	Missense_Mutation	SNP	A	TCGA-P5-A780-01A-12D-A32B-08	54505058	64947733	90322827	62	32509											
CAPN6	827	broad.mit.edu	37	X	110497569	110497569	+	Silent	SNP	C	C	T			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chrX:110497569C>T	ENST00000324068.1	-	3	395	c.228G>A	c.(226-228)ggG>ggA	p.G76G	CAPN6_ENST00000541758.1_5'UTR	NM_014289.3	NP_055104.2	Q9Y6Q1	CAN6_HUMAN	calpain 6	76	Calpain catalytic.				microtubule bundle formation|proteolysis|regulation of cytoskeleton organization	perinuclear region of cytoplasm|spindle microtubule	calcium-dependent cysteine-type endopeptidase activity|microtubule binding			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	47						GCCCCAGTCTCCCTTGGGTCA	0.468													17	88					0	0	1	0	0	T	110497569	C	T	110497569	2	4	374	1	0	0	0	0	0	0	0	1	2648	842	30	2		2	CAPN6	23	110497569	Silent	SNP	C	TCGA-P5-A780-01A-12D-A32B-08	45549836	110497569	44772991	63	32510											
BCORL1	63035	broad.mit.edu	37	X	129190022	129190022	+	Missense_Mutation	SNP	T	T	C			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chrX:129190022T>C	ENST00000540052.1	+	12	5091	c.5047T>C	c.(5047-5049)Tcc>Ccc	p.S1683P	BCORL1_ENST00000303743.5_Missense_Mutation_p.S1757P|BCORL1_ENST00000359304.2_Missense_Mutation_p.S1553P|BCORL1_ENST00000218147.7_Missense_Mutation_p.S1683P	NM_021946.4	NP_068765	Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	1683					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						CCCCCCAGGCTCCTCTGAGAC	0.617													8	95					0	0	1	0	0	C	129190022	T	C	129190022	3	2	374	1	0	0	0	0	1	0	0	0	1385	1551	54	3	5319	3	BCORL1	23	129190022	Missense_Mutation	SNP	T	TCGA-P5-A780-01A-12D-A32B-08	18692453	129190022	26080538	64	32511											
USP26	83844	broad.mit.edu	37	X	132160182	132160182	+	Silent	SNP	A	A	G			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chrX:132160182A>G	ENST00000511190.1	-	6	2536	c.2067T>C	c.(2065-2067)ttT>ttC	p.F689F	USP26_ENST00000406273.1_Silent_p.F689F|USP26_ENST00000370832.1_Silent_p.F689F	NM_031907.1	NP_114113.1	Q9BXU7	UBP26_HUMAN	ubiquitin specific peptidase 26	689					protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60	Acute lymphoblastic leukemia(192;0.000127)					GCACTGTTTGAAAGTCAACTT	0.398													26	72					0	0	1	0	0	G	132160182	A	G	132160182	2	3	374	1	0	0	0	0	0	0	0	1	17117	243	9	3		3	USP26	23	132160182	Silent	SNP	A	TCGA-P5-A780-01A-12D-A32B-08	2970160	132160182	23110378	65	32512											
LDOC1	23641	broad.mit.edu	37	X	140271196	140271196	+	Missense_Mutation	SNP	T	T	C			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chrX:140271196T>C	ENST00000370526.2	-	1	114	c.11A>G	c.(10-12)gAg>gGg	p.E4G	LDOC1_ENST00000460721.1_5'UTR	NM_012317.2	NP_036449.1	O95751	LDOC1_HUMAN	leucine zipper, down-regulated in cancer 1	4					negative regulation of cell proliferation	nucleus	protein binding			endometrium(6)|large_intestine(1)|lung(6)|ovary(1)	14	Acute lymphoblastic leukemia(192;7.65e-05)					CAGCACCAACTCATCCACCAT	0.662													5	18					0	0	1	0	0	C	140271196	T	C	140271196	3	2	374	1	0	0	0	0	1	0	0	0	8748	1551	54	3	433	3	LDOC1	23	140271196	Missense_Mutation	SNP	T	TCGA-P5-A780-01A-12D-A32B-08	8111014	140271196	14999364	66	32513											
SPANXC	64663	broad.mit.edu	37	X	140335727	140335727	+	Nonsense_Mutation	SNP	G	G	A			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chrX:140335727G>A	ENST00000358993.2	-	2	255	c.217C>T	c.(217-219)Cga>Tga	p.R73*		NM_022661.2	NP_073152.1	Q9NY87	SPNXC_HUMAN	SPANX family, member C	73						cytoplasm|nucleus		p.R73R(1)		large_intestine(2)|lung(3)|pancreas(1)	6	Acute lymphoblastic leukemia(192;7.65e-05)					CTGTTCTCTCGGGCGTGGTCA	0.443													33	93					0	0	1	0	0	A	140335727	G	A	140335727	4	1	374	1	0	0	0	0	0	1	0	0	15043	1124	39	1	80	1	SPANXC	23	140335727	Nonsense_Mutation	SNP	G	TCGA-P5-A780-01A-12D-A32B-08	64531	140335727	14934833	67	32514											
MAMLD1	10046	broad.mit.edu	37	X	149639254	149639254	+	Missense_Mutation	SNP	A	A	G			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chrX:149639254A>G	ENST00000370401.2	+	4	1719	c.1409A>G	c.(1408-1410)cAg>cGg	p.Q470R	MAMLD1_ENST00000262858.5_Missense_Mutation_p.Q470R|MAMLD1_ENST00000432680.2_Missense_Mutation_p.Q445R|MAMLD1_ENST00000426613.2_Missense_Mutation_p.Q445R			Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	470					male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37	Acute lymphoblastic leukemia(192;6.56e-05)					GGCTTGCCACAGCAGTCCTTC	0.592													13	107					0	0	1	0	0	G	149639254	A	G	149639254	3	3	374	1	0	0	0	0	1	0	0	0	9258	188	7	3	1419	3	MAMLD1	23	149639254	Missense_Mutation	SNP	A	TCGA-P5-A780-01A-12D-A32B-08	9303527	149639254	5631306	68	32515											
CALML6	163688	broad.mit.edu	37	1	1848242	1848242	+	Missense_Mutation	SNP	A	A	T			TCGA-P5-A781-01A-11D-A32B-08	TCGA-P5-A781-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31b4159e-4e59-46bc-a18f-5f2790e533bf	b6938bbf-14a5-4137-952c-1874ee5e3c1c	g.chr1:1848242A>T	ENST00000307786.3	+	4	759	c.305A>T	c.(304-306)cAt>cTt	p.H102L	CALML6_ENST00000462293.1_3'UTR	NM_138705.2	NP_619650.2	Q8TD86	CALL6_HUMAN	calmodulin-like 6	102	EF-hand 2.					cytoplasm|nucleus	calcium ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|lung(1)|prostate(2)	7	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.61e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;1.94e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.83e-23)|GBM - Glioblastoma multiforme(42;3.23e-08)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00437)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)		GGAGTTTACCATGAGAAGGCC	0.562													9	107					0	0	1	0	0	T	1848242	A	T	1848242	3	4	375	1	0	0	0	0	1	0	0	0	2608	217	8	4	319	4	CALML6	1	1848242	Missense_Mutation	SNP	A	TCGA-P5-A781-01A-11D-A32B-08		1848242	247402379	1	32516											
ZAK	51776	broad.mit.edu	37	2	174131122	174131122	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A781-01A-11D-A32B-08	TCGA-P5-A781-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31b4159e-4e59-46bc-a18f-5f2790e533bf	b6938bbf-14a5-4137-952c-1874ee5e3c1c	g.chr2:174131122C>T	ENST00000375213.3	+	20	2125	c.2047C>T	c.(2047-2049)Cgt>Tgt	p.R683C	MLTK_ENST00000409176.2_Missense_Mutation_p.R683C|MLK7-AS1_ENST00000422703.1_RNA|MLK7-AS1_ENST00000423106.2_RNA	NM_016653.2	NP_057737.2																					CAAATATGGACGTGGTAGTAT	0.458													23	41					0	0	1	0	0	T	174131122	C	T	174131122	3	4	375	1	0	0	0	0	1	0	0	0	17572	536	19	1	2506	1	ZAK	2	174131122	Missense_Mutation	SNP	C	TCGA-P5-A781-01A-11D-A32B-08		174131122	69068251	2	32517											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-P5-A781-01A-11D-A32B-08	TCGA-P5-A781-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31b4159e-4e59-46bc-a18f-5f2790e533bf	b6938bbf-14a5-4137-952c-1874ee5e3c1c	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								14	31					0	0	1	0	0	T	209113112	C	T	209113112	3	4	375	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-P5-A781-01A-11D-A32B-08	34981990	209113112	34086261	3	32518											
TRIM27	5987	broad.mit.edu	37	6	28887928	28887928	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A781-01A-11D-A32B-08	TCGA-P5-A781-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31b4159e-4e59-46bc-a18f-5f2790e533bf	b6938bbf-14a5-4137-952c-1874ee5e3c1c	g.chr6:28887928C>T	ENST00000377199.3	-	3	964	c.608G>A	c.(607-609)cGc>cAc	p.R203H	TRIM27_ENST00000377194.3_Missense_Mutation_p.R203H|TRIM27_ENST00000498117.1_5'UTR	NM_006510.4	NP_006501.1	P14373	TRI27_HUMAN	tripartite motif containing 27	203					cell proliferation|negative regulation of gene expression, epigenetic|negative regulation of transcription from RNA polymerase II promoter|protein trimerization|spermatogenesis|transcription, DNA-dependent	cytoplasm|integral to plasma membrane|membrane fraction|nuclear membrane|PML body	DNA binding|protein binding|transmembrane receptor protein tyrosine kinase activity|zinc ion binding			endometrium(1)|large_intestine(2)|lung(6)|ovary(1)	10						CTCCTCAAGGCGGGCCAGGAG	0.517			T	RET	papillary thyroid								18	115					0	0	1	0	0	T	28887928	C	T	28887928	3	4	375	1	0	0	0	0	1	0	0	0	16562	768	27	1	957	1	TRIM27	6	28887928	Missense_Mutation	SNP	C	TCGA-P5-A781-01A-11D-A32B-08		28887928	142227139	4	32519											
ZBTB9	221504	broad.mit.edu	37	6	33423522	33423522	+	Silent	SNP	G	G	A			TCGA-P5-A781-01A-11D-A32B-08	TCGA-P5-A781-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31b4159e-4e59-46bc-a18f-5f2790e533bf	b6938bbf-14a5-4137-952c-1874ee5e3c1c	g.chr6:33423522G>A	ENST00000395064.2	+	2	913	c.645G>A	c.(643-645)gaG>gaA	p.E215E		NM_152735.3	NP_689948.1	Q96C00	ZBTB9_HUMAN	zinc finger and BTB domain containing 9	215					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|skin(1)|upper_aerodigestive_tract(2)	11						aagaagaagaggaggaggagg	0.552													3	57					0	0	1	0	0	A	33423522	G	A	33423522	2	1	375	1	0	0	0	0	0	0	0	1	17617	991	35	2		2	ZBTB9	6	33423522	Silent	SNP	G	TCGA-P5-A781-01A-11D-A32B-08	4535594	33423522	137691545	5	32520											
SGCZ	137868	broad.mit.edu	37	8	13959903	13959903	+	Silent	SNP	C	C	T			TCGA-P5-A781-01A-11D-A32B-08	TCGA-P5-A781-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31b4159e-4e59-46bc-a18f-5f2790e533bf	b6938bbf-14a5-4137-952c-1874ee5e3c1c	g.chr8:13959903C>T	ENST00000382080.1	-	7	1441	c.726G>A	c.(724-726)ctG>ctA	p.L242L	SGCZ_ENST00000421524.2_Silent_p.L195L	NM_139167.2	NP_631906.2	Q96LD1	SGCZ_HUMAN	sarcoglycan, zeta	229					cytoskeleton organization	cytoplasm|cytoskeleton|integral to membrane|sarcolemma				NS(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(14)|lung(15)|ovary(2)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	47				all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026)		CTGTAGATTGCAGATGGAGCT	0.507													3	47					0	0	1	0	0	T	13959903	C	T	13959903	2	4	375	1	0	0	0	0	0	0	0	1	14258	697	25	2		2	SGCZ	8	13959903	Silent	SNP	C	TCGA-P5-A781-01A-11D-A32B-08		13959903	132404119	6	32521											
SLC30A8	169026	broad.mit.edu	37	8	118183316	118183316	+	Silent	SNP	T	T	A			TCGA-P5-A781-01A-11D-A32B-08	TCGA-P5-A781-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31b4159e-4e59-46bc-a18f-5f2790e533bf	b6938bbf-14a5-4137-952c-1874ee5e3c1c	g.chr8:118183316T>A	ENST00000427715.2	+	10	1160	c.726T>A	c.(724-726)atT>atA	p.I242I	SLC30A8_ENST00000456015.2_Silent_p.I291I|SLC30A8_ENST00000521243.1_Silent_p.I242I|SLC30A8_ENST00000519688.1_Silent_p.I242I	NM_001172813.1|NM_001172815.1	NP_001166284.1|NP_001166286.1	Q8IWU4	ZNT8_HUMAN	solute carrier family 30 (zinc transporter), member 8	291					insulin secretion|positive regulation of insulin secretion|regulation of sequestering of zinc ion|regulation of vesicle-mediated transport|response to glucose stimulus|sequestering of zinc ion	integral to membrane|plasma membrane|secretory granule membrane|transport vesicle membrane	protein homodimerization activity|zinc ion transmembrane transporter activity			breast(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(18)|ovary(2)|pancreas(2)|skin(5)	41	all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.203)			AAGAGCTTATTTTAGCAGTCG	0.453													9	92					0	0	1	0	0	A	118183316	T	A	118183316	2	1	375	1	0	0	0	0	0	0	0	1	14616	1829	64	5		5	SLC30A8	8	118183316	Silent	SNP	T	TCGA-P5-A781-01A-11D-A32B-08	104223413	118183316	28180706	7	32522											
DENND3	22898	broad.mit.edu	37	8	142185447	142185447	+	Silent	SNP	C	C	T			TCGA-P5-A781-01A-11D-A32B-08	TCGA-P5-A781-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31b4159e-4e59-46bc-a18f-5f2790e533bf	b6938bbf-14a5-4137-952c-1874ee5e3c1c	g.chr8:142185447C>T	ENST00000519811.1	+	14	2494	c.2424C>T	c.(2422-2424)tcC>tcT	p.S808S	DENND3_ENST00000262585.2_Silent_p.S728S|DENND3_ENST00000424248.1_Silent_p.S676S			A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	728										breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			TGTCCAGCTCCGTCAAGACAA	0.547											OREG0019025	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	24	38					0	0	1	0	0	T	142185447	C	T	142185447	2	4	375	1	0	0	0	0	0	0	0	1	4460	639	23	1		1	DENND3	8	142185447	Silent	SNP	C	TCGA-P5-A781-01A-11D-A32B-08	24002131	142185447	4178575	8	32523											
SLK	9748	broad.mit.edu	37	10	105762041	105762041	+	Missense_Mutation	SNP	C	C	T	rs140715399		TCGA-P5-A781-01A-11D-A32B-08	TCGA-P5-A781-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31b4159e-4e59-46bc-a18f-5f2790e533bf	b6938bbf-14a5-4137-952c-1874ee5e3c1c	g.chr10:105762041C>T	ENST00000369755.3	+	9	1650	c.1105C>T	c.(1105-1107)Cgt>Tgt	p.R369C	SLK_ENST00000335753.4_Missense_Mutation_p.R369C	NM_014720.2	NP_055535.2	Q9H2G2	SLK_HUMAN	STE20-like kinase	369	Glu-rich.				apoptosis|nucleotide-excision repair	cytoplasm|plasma membrane	ATP binding|DNA binding|nuclease activity|protein serine/threonine kinase activity			kidney(1)|lung(1)|ovary(2)|skin(2)|stomach(2)	8		Colorectal(252;0.178)		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		AAAAACAGAACGTAGTAACTC	0.368													14	134					0	0	1	0	0	T	105762041	C	T	105762041	3	4	375	1	0	0	0	0	1	0	0	0	14802	536	19	1	1139	1	SLK	10	105762041	Missense_Mutation	SNP	C	TCGA-P5-A781-01A-11D-A32B-08		105762041	29772706	9	32524											
BBOX1	8424	broad.mit.edu	37	11	27077073	27077073	+	Silent	SNP	A	A	G			TCGA-P5-A781-01A-11D-A32B-08	TCGA-P5-A781-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31b4159e-4e59-46bc-a18f-5f2790e533bf	b6938bbf-14a5-4137-952c-1874ee5e3c1c	g.chr11:27077073A>G	ENST00000263182.3	+	3	464	c.96A>G	c.(94-96)gtA>gtG	p.V32V	BBOX1_ENST00000527505.1_3'UTR|RP11-1L12.3_ENST00000526061.1_RNA|BBOX1_ENST00000529202.1_Silent_p.V32V|BBOX1_ENST00000528583.1_Silent_p.V32V|BBOX1_ENST00000525090.1_Silent_p.V32V	NM_003986.2	NP_003977.1	O75936	BODG_HUMAN	butyrobetaine (gamma), 2-oxoglutarate dioxygenase (gamma-butyrobetaine hydroxylase) 1	32					carnitine biosynthetic process	actin cytoskeleton|cytosol|intracellular membrane-bounded organelle	gamma-butyrobetaine dioxygenase activity|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	23					Succinic acid(DB00139)|Vitamin C(DB00126)	ACCCAGCTGTATGGTTGAGAG	0.468													7	43					0	0	1	0	0	G	27077073	A	G	27077073	2	3	375	1	0	0	0	0	0	0	0	1	1332	436	16	3		3	BBOX1	11	27077073	Silent	SNP	A	TCGA-P5-A781-01A-11D-A32B-08		27077073	107929443	10	32525											
EHD1	10938	broad.mit.edu	37	11	64622163	64622163	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A781-01A-11D-A32B-08	TCGA-P5-A781-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31b4159e-4e59-46bc-a18f-5f2790e533bf	b6938bbf-14a5-4137-952c-1874ee5e3c1c	g.chr11:64622163C>T	ENST00000320631.3	-	5	1501	c.1247G>A	c.(1246-1248)gGc>gAc	p.G416D	EHD1_ENST00000359393.2_Missense_Mutation_p.G416D|EHD1_ENST00000488711.1_5'UTR	NM_001282445.1|NM_006795.2	NP_001269374.1|NP_006786.2	Q9H4M9	EHD1_HUMAN	EH-domain containing 1	416					blood coagulation|cholesterol homeostasis|endocytic recycling|intracellular protein transport|low-density lipoprotein particle clearance|positive regulation of cholesterol storage|protein homooligomerization	early endosome membrane|lipid particle|plasma membrane|platelet dense tubular network membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	12						GTTCATGGTGCCGTCAAAGGC	0.672													7	171					0	0	1	0	0	T	64622163	C	T	64622163	3	4	375	1	0	0	0	0	1	0	0	0	5003	739	26	2	361	2	EHD1	11	64622163	Missense_Mutation	SNP	C	TCGA-P5-A781-01A-11D-A32B-08	37545090	64622163	70384353	11	32526											
SHANK2	22941	broad.mit.edu	37	11	70507799	70507799	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A781-01A-11D-A32B-08	TCGA-P5-A781-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31b4159e-4e59-46bc-a18f-5f2790e533bf	b6938bbf-14a5-4137-952c-1874ee5e3c1c	g.chr11:70507799C>T	ENST00000449833.2	-	1	124	c.74G>A	c.(73-75)cGg>cAg	p.R25Q	SHANK2_ENST00000423696.2_Intron|SHANK2_ENST00000409161.1_Missense_Mutation_p.R24Q|SHANK2_ENST00000449116.2_Missense_Mutation_p.R25Q|SHANK2_ENST00000409530.1_Missense_Mutation_p.R24Q|SHANK2_ENST00000338508.4_Intron|SHANK2_ENST00000357171.3_Missense_Mutation_p.R25Q	NM_133266.3	NP_573573.2	Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	0					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			GAGAGAATTCCGGGGACAGCG	0.542													4	177					0	0	1	0	0	T	70507799	C	T	70507799	3	4	375	1	0	0	0	0	1	0	0	0	14320	652	23	1	3755	1	SHANK2	11	70507799	Missense_Mutation	SNP	C	TCGA-P5-A781-01A-11D-A32B-08	5885636	70507799	64498717	12	32527											
GAB2	9846	broad.mit.edu	37	11	77937662	77937662	+	Silent	SNP	T	T	G			TCGA-P5-A781-01A-11D-A32B-08	TCGA-P5-A781-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31b4159e-4e59-46bc-a18f-5f2790e533bf	b6938bbf-14a5-4137-952c-1874ee5e3c1c	g.chr11:77937662T>G	ENST00000361507.4	-	4	1141	c.1056A>C	c.(1054-1056)ccA>ccC	p.P352P	GAB2_ENST00000340149.2_Silent_p.P314P	NM_080491.2	NP_536739.1	Q9UQC2	GAB2_HUMAN	GRB2-associated binding protein 2	352					osteoclast differentiation|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mast cell degranulation	cytosol|plasma membrane	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|transmembrane receptor protein tyrosine kinase adaptor activity		INTS4/GAB2(2)	NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(14;3.31e-18)|all_epithelial(13;5.3e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.58e-23)			GGGGGCGGGGTGGGGGAGCTA	0.582													6	53					0	0	1	0	0	G	77937662	T	G	77937662	2	3	375	1	0	0	0	0	0	0	0	1	6184	1683	59	5		5	GAB2	11	77937662	Silent	SNP	T	TCGA-P5-A781-01A-11D-A32B-08	7429863	77937662	57068854	13	32528											
MLLT6	4302	broad.mit.edu	37	17	36871961	36871961	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A781-01A-11D-A32B-08	TCGA-P5-A781-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31b4159e-4e59-46bc-a18f-5f2790e533bf	b6938bbf-14a5-4137-952c-1874ee5e3c1c	g.chr17:36871961C>T	ENST00000325718.7	+	9	1007	c.916C>T	c.(916-918)Cat>Tat	p.H306Y	CTB-58E17.9_ENST00000579499.1_RNA	NM_005937.3	NP_005928	P55198	AF17_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6	306					regulation of transcription, DNA-dependent	nucleus	protein binding|zinc ion binding			breast(3)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8	Breast(7;4.43e-21)					GTCTTCCAGCCATAGCCTGAG	0.562			T	MLL	AL								10	23					0	0	1	0	0	T	36871961	C	T	36871961	3	4	375	1	0	0	0	0	1	0	0	0	9678	594	21	2	950	2	MLLT6	17	36871961	Missense_Mutation	SNP	C	TCGA-P5-A781-01A-11D-A32B-08		36871961	44323249	14	32529											
FOXK2	3607	broad.mit.edu	37	17	80541951	80541951	+	Missense_Mutation	SNP	C	C	G			TCGA-P5-A781-01A-11D-A32B-08	TCGA-P5-A781-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31b4159e-4e59-46bc-a18f-5f2790e533bf	b6938bbf-14a5-4137-952c-1874ee5e3c1c	g.chr17:80541951C>G	ENST00000335255.5	+	6	1340	c.1166C>G	c.(1165-1167)aCc>aGc	p.T389S		NM_004514.3	NP_004505.2	Q01167	FOXK2_HUMAN	forkhead box K2	389					embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|magnesium ion binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|urinary_tract(1)	17	Breast(20;0.00106)|all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.0371)|BRCA - Breast invasive adenocarcinoma(99;0.0415)			GGCGCCCAGACCCCTGAGAGC	0.632													3	29					0	0	1	0	0	G	80541951	C	G	80541951	3	3	375	1	0	0	0	0	1	0	0	0	6049	507	18	5	1188	5	FOXK2	17	80541951	Missense_Mutation	SNP	C	TCGA-P5-A781-01A-11D-A32B-08	43669990	80541951	653259	15	32530											
RIN2	54453	broad.mit.edu	37	20	19955639	19955639	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A781-01A-11D-A32B-08	TCGA-P5-A781-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31b4159e-4e59-46bc-a18f-5f2790e533bf	b6938bbf-14a5-4137-952c-1874ee5e3c1c	g.chr20:19955639C>T	ENST00000255006.6	+	8	1266	c.1117C>T	c.(1117-1119)Cgg>Tgg	p.R373W	RIN2_ENST00000484638.1_3'UTR|RIN2_ENST00000440354.2_Intron	NM_001242581.1|NM_018993.3	NP_001229510.1|NP_061866.1	Q8WYP3	RIN2_HUMAN	Ras and Rab interactor 2	324					endocytosis|small GTPase mediated signal transduction	cytoplasm	GTPase activator activity|Rab guanyl-nucleotide exchange factor activity			autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	27						CACAAGCCCTCGGCTGGCCAG	0.602													6	41					0	0	1	0	0	T	19955639	C	T	19955639	3	4	375	1	0	0	0	0	1	0	0	0	13424	875	31	1	996	1	RIN2	20	19955639	Missense_Mutation	SNP	C	TCGA-P5-A781-01A-11D-A32B-08		19955639	43069881	16	32531											
TRMT2A	27037	broad.mit.edu	37	22	20104015	20104015	+	Missense_Mutation	SNP	C	C	A			TCGA-P5-A781-01A-11D-A32B-08	TCGA-P5-A781-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31b4159e-4e59-46bc-a18f-5f2790e533bf	b6938bbf-14a5-4137-952c-1874ee5e3c1c	g.chr22:20104015C>A	ENST00000252136.7	-	2	533	c.145G>T	c.(145-147)Gcg>Tcg	p.A49S	RANBP1_ENST00000430524.1_Intron|TRMT2A_ENST00000403707.3_Missense_Mutation_p.A49S|TRMT2A_ENST00000439169.2_Missense_Mutation_p.A49S|TRMT2A_ENST00000404751.3_Missense_Mutation_p.A49S	NM_001257994.1|NM_022727.5|NM_182984.4	NP_001244923.1|NP_073564.3|NP_892029.2	Q8IZ69	TRM2A_HUMAN	tRNA methyltransferase 2 homolog A (S. cerevisiae)	49					RNA processing		nucleotide binding|RNA binding|RNA methyltransferase activity			breast(2)|endometrium(2)|lung(5)	9						CCTGTAGCCGCCCCAGCGCCC	0.647													3	44					0.115264	0.115264	1	1	0	A	20104015	C	A	20104015	3	1	375	1	0	0	0	0	1	0	0	0	16626	739	26	5	1776	5	TRMT2A	22	20104015	Missense_Mutation	SNP	C	TCGA-P5-A781-01A-11D-A32B-08		20104015	31200551	17	32532											
ACOT9	23597	broad.mit.edu	37	X	23723894	23723894	+	Silent	SNP	G	G	A			TCGA-P5-A781-01A-11D-A32B-08	TCGA-P5-A781-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31b4159e-4e59-46bc-a18f-5f2790e533bf	b6938bbf-14a5-4137-952c-1874ee5e3c1c	g.chrX:23723894G>A	ENST00000379303.5	-	12	1052	c.924C>T	c.(922-924)tgC>tgT	p.C308C	ACOT9_ENST00000336430.7_Silent_p.C299C|ACOT9_ENST00000379295.1_Silent_p.C239C	NM_001037171.1	NP_001032248.1	Q9Y305	ACOT9_HUMAN	acyl-CoA thioesterase 9	299					acyl-CoA metabolic process	mitochondrion	acetyl-CoA hydrolase activity|carboxylesterase activity			breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(4)|pancreas(1)|skin(1)	15						CCTGAGGGTGGCAAATTTCCA	0.373													5	236					0	0	1	0	0	A	23723894	G	A	23723894	2	1	375	1	0	0	0	0	0	0	0	1	157	1195	42	2		2	ACOT9	23	23723894	Silent	SNP	G	TCGA-P5-A781-01A-11D-A32B-08		23723894	131546666	18	32533											
HUWE1	10075	broad.mit.edu	37	X	53576145	53576145	+	Missense_Mutation	SNP	G	G	T			TCGA-P5-A781-01A-11D-A32B-08	TCGA-P5-A781-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31b4159e-4e59-46bc-a18f-5f2790e533bf	b6938bbf-14a5-4137-952c-1874ee5e3c1c	g.chrX:53576145G>T	ENST00000342160.3	-	66	10267	c.9810C>A	c.(9808-9810)gaC>gaA	p.D3270E	HUWE1_ENST00000262854.6_Missense_Mutation_p.D3270E			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	3270					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						TGTGTAGCAGGTCCAGGGGAC	0.493													29	138					3.65163e-15	4.01679e-15	1	1	0	T	53576145	G	T	53576145	3	4	375	1	0	0	0	0	1	0	0	0	7505	1252	44	5	3386	5	HUWE1	23	53576145	Missense_Mutation	SNP	G	TCGA-P5-A781-01A-11D-A32B-08	29852251	53576145	101694415	19	32534											
DACH2	117154	broad.mit.edu	37	X	85906101	85906101	+	Missense_Mutation	SNP	A	A	G			TCGA-P5-A781-01A-11D-A32B-08	TCGA-P5-A781-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31b4159e-4e59-46bc-a18f-5f2790e533bf	b6938bbf-14a5-4137-952c-1874ee5e3c1c	g.chrX:85906101A>G	ENST00000373131.1	+	3	827	c.664A>G	c.(664-666)Aac>Gac	p.N222D	DACH2_ENST00000508860.1_Missense_Mutation_p.N68D|DACH2_ENST00000373125.4_Missense_Mutation_p.N235D|DACH2_ENST00000510272.1_Missense_Mutation_p.N16D	NM_001139514.1	NP_001132986.1	Q96NX9	DACH2_HUMAN	dachshund homolog 2 (Drosophila)	235					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|nucleotide binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						TATGGCTATGAACACTCTTCA	0.408													9	16					0	0	1	0	0	G	85906101	A	G	85906101	3	3	375	1	0	0	0	0	1	0	0	0	4245	246	9	3	717	3	DACH2	23	85906101	Missense_Mutation	SNP	A	TCGA-P5-A781-01A-11D-A32B-08	32329956	85906101	69364459	20	32535											
CD1A	909	broad.mit.edu	37	1	158226067	158226067	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A65R-01A-21D-A31L-08	TCGA-QH-A65R-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e039efea-ec31-482d-8c2f-8e002237230a	f8836150-9268-48d8-8991-037a21c25471	g.chr1:158226067G>A	ENST00000289429.5	+	3	1132	c.599G>A	c.(598-600)cGg>cAg	p.R200Q		NM_001763.2	NP_001754.2	P06126	CD1A_HUMAN	CD1a molecule	200	Ig-like.				antigen processing and presentation|immune response	endosome membrane|integral to plasma membrane|MHC class I protein complex				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	32	all_hematologic(112;0.0378)				Antithymocyte globulin(DB00098)	CATCTCCAGCGGCAAGGTCAG	0.463													9	74					0	0	1	0	0	A	158226067	G	A	158226067	3	1	376	1	0	0	0	0	1	0	0	0	2996	1116	39	1	609	1	CD1A	1	158226067	Missense_Mutation	SNP	G	TCGA-QH-A65R-01A-21D-A31L-08		158226067	91024554	1	32536											
LGR6	59352	broad.mit.edu	37	1	202288165	202288165	+	Silent	SNP	C	C	T			TCGA-QH-A65R-01A-21D-A31L-08	TCGA-QH-A65R-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e039efea-ec31-482d-8c2f-8e002237230a	f8836150-9268-48d8-8991-037a21c25471	g.chr1:202288165C>T	ENST00000367278.3	+	18	2823	c.2734C>T	c.(2734-2736)Ctg>Ttg	p.L912L	LGR6_ENST00000439764.2_Silent_p.L773L|LGR6_ENST00000255432.7_Silent_p.L860L	NM_001017403.1	NP_001017403.1	Q9HBX8	LGR6_HUMAN	leucine-rich repeat containing G protein-coupled receptor 6	912						integral to membrane|plasma membrane	protein-hormone receptor activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						GGCCCCCAGGCTGGAGGGCAG	0.627													36	65					0	0	1	0	0	T	202288165	C	T	202288165	2	4	376	1	0	0	0	0	0	0	0	1	8798	796	28	2		2	LGR6	1	202288165	Silent	SNP	C	TCGA-QH-A65R-01A-21D-A31L-08	44062098	202288165	46962456	2	32537											
OBSCN	84033	broad.mit.edu	37	1	228437883	228437883	+	Silent	SNP	C	C	T	rs35326243		TCGA-QH-A65R-01A-21D-A31L-08	TCGA-QH-A65R-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e039efea-ec31-482d-8c2f-8e002237230a	f8836150-9268-48d8-8991-037a21c25471	g.chr1:228437883C>T	ENST00000570156.2	+	15	4601	c.4527C>T	c.(4525-4527)acC>acT	p.T1509T	OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000422127.1_Silent_p.T1417T|OBSCN_ENST00000284548.11_Silent_p.T1417T|OBSCN_ENST00000366709.4_5'UTR	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	487	Ig-like 15.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				AGGCGGACACCGGGGAGTATA	0.642													4	192					0	0	1	0	0	T	228437883	C	T	228437883	2	4	376	1	0	0	0	0	0	0	0	1	10860	639	23	1		1	OBSCN	1	228437883	Silent	SNP	C	TCGA-QH-A65R-01A-21D-A31L-08	26149718	228437883	20812738	3	32538											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-QH-A65R-01A-21D-A31L-08	TCGA-QH-A65R-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e039efea-ec31-482d-8c2f-8e002237230a	f8836150-9268-48d8-8991-037a21c25471	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								17	31					0	0	1	0	0	T	209113112	C	T	209113112	3	4	376	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-QH-A65R-01A-21D-A31L-08		209113112	34086261	4	32539											
COL7A1	1294	broad.mit.edu	37	3	48611977	48611977	+	Missense_Mutation	SNP	G	G	A	rs148638156		TCGA-QH-A65R-01A-21D-A31L-08	TCGA-QH-A65R-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e039efea-ec31-482d-8c2f-8e002237230a	f8836150-9268-48d8-8991-037a21c25471	g.chr3:48611977G>A	ENST00000328333.8	-	78	6507	c.6400C>T	c.(6400-6402)Cca>Tca	p.P2134S	COL7A1_ENST00000454817.1_Missense_Mutation_p.P2102S	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	2134	Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TTGATGCCTGGCACACCCTGA	0.632													4	81					0	0	1	0	0	A	48611977	G	A	48611977	3	1	376	1	0	0	0	0	1	0	0	0	3727	1203	42	2	2598	2	COL7A1	3	48611977	Missense_Mutation	SNP	G	TCGA-QH-A65R-01A-21D-A31L-08		48611977	149410453	5	32540											
USP4	7375	broad.mit.edu	37	3	49323550	49323550	+	Silent	SNP	T	T	A			TCGA-QH-A65R-01A-21D-A31L-08	TCGA-QH-A65R-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e039efea-ec31-482d-8c2f-8e002237230a	f8836150-9268-48d8-8991-037a21c25471	g.chr3:49323550T>A	ENST00000351842.4	-	15	2048	c.2040A>T	c.(2038-2040)ggA>ggT	p.G680G	USP4_ENST00000265560.4_Silent_p.G727G	NM_199443.2	NP_955475.1	Q13107	UBP4_HUMAN	ubiquitin specific peptidase 4 (proto-oncogene)	727					negative regulation of protein ubiquitination|protein deubiquitination|protein localization at cell surface|regulation of protein stability|ubiquitin-dependent protein catabolic process	lysosome|nucleus	adenosine receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121)		OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05)		TAAGTAGTTTTCCATCAGCTG	0.413													31	43					0	0	1	0	0	A	49323550	T	A	49323550	2	1	376	1	0	0	0	0	0	0	0	1	17131	1770	62	5		5	USP4	3	49323550	Silent	SNP	T	TCGA-QH-A65R-01A-21D-A31L-08	711573	49323550	148698880	6	32541											
ZBED2	79413	broad.mit.edu	37	3	111312789	111312789	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A65R-01A-21D-A31L-08	TCGA-QH-A65R-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e039efea-ec31-482d-8c2f-8e002237230a	f8836150-9268-48d8-8991-037a21c25471	g.chr3:111312789C>T	ENST00000317012.4	-	2	1268	c.260G>A	c.(259-261)cGt>cAt	p.R87H	CD96_ENST00000438817.2_Intron|CD96_ENST00000283285.5_Intron|CD96_ENST00000352690.4_Intron	NM_024508.4	NP_078784.2	Q9BTP6	ZBED2_HUMAN	zinc finger, BED-type containing 2	87							DNA binding|metal ion binding			large_intestine(3)|lung(1)|skin(2)	6						CCCAGGGCCACGGCTCACCTG	0.602													35	66					0	0	1	0	0	T	111312789	C	T	111312789	3	4	376	1	0	0	0	0	1	0	0	0	17578	536	19	1	400	1	ZBED2	3	111312789	Missense_Mutation	SNP	C	TCGA-QH-A65R-01A-21D-A31L-08	61989239	111312789	86709641	7	32542											
ZBTB20	26137	broad.mit.edu	37	3	114058216	114058216	+	Missense_Mutation	SNP	A	A	T			TCGA-QH-A65R-01A-21D-A31L-08	TCGA-QH-A65R-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e039efea-ec31-482d-8c2f-8e002237230a	f8836150-9268-48d8-8991-037a21c25471	g.chr3:114058216A>T	ENST00000462705.1	-	12	2464	c.1643T>A	c.(1642-1644)cTt>cAt	p.L548H	ZBTB20_ENST00000393785.2_Missense_Mutation_p.L548H|ZBTB20_ENST00000474710.1_Missense_Mutation_p.L621H|ZBTB20_ENST00000481632.1_Missense_Mutation_p.L548H|ZBTB20_ENST00000471418.1_Missense_Mutation_p.L548H|ZBTB20_ENST00000357258.3_Missense_Mutation_p.L548H|ZBTB20_ENST00000464560.1_Missense_Mutation_p.L548H	NM_001164343.1	NP_001157815.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	621					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		GTGCTTGATAAGGTAATCCTT	0.522													33	72					0	0	1	0	0	T	114058216	A	T	114058216	3	4	376	1	0	0	0	0	1	0	0	0	17588	72	3	5	367	5	ZBTB20	3	114058216	Missense_Mutation	SNP	A	TCGA-QH-A65R-01A-21D-A31L-08	2745427	114058216	83964214	8	32543											
TLR1	7096	broad.mit.edu	37	4	38800242	38800242	+	Missense_Mutation	SNP	G	G	T			TCGA-QH-A65R-01A-21D-A31L-08	TCGA-QH-A65R-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e039efea-ec31-482d-8c2f-8e002237230a	f8836150-9268-48d8-8991-037a21c25471	g.chr4:38800242G>T	ENST00000308979.2	-	4	484	c.211C>A	c.(211-213)Ctg>Atg	p.L71M	TLR1_ENST00000502213.2_Missense_Mutation_p.L71M	NM_003263.3	NP_003254.2	Q15399	TLR1_HUMAN	toll-like receptor 1	71					cellular response to triacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|inflammatory response|innate immune response|macrophage activation|positive regulation of interleukin-6 biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	integral to plasma membrane|phagocytic vesicle membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex	protein heterodimerization activity|transmembrane receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(2)	28						AAAATCCTCAGTTTTGACAGT	0.333													25	137					5.61819e-17	5.85726e-17	1	1	0	T	38800242	G	T	38800242	3	4	376	1	0	0	0	0	1	0	0	0	16009	1020	36	4	2153	4	TLR1	4	38800242	Missense_Mutation	SNP	G	TCGA-QH-A65R-01A-21D-A31L-08		38800242	152354034	9	32544											
ANKRD17	26057	broad.mit.edu	37	4	73944453	73944453	+	Silent	SNP	A	A	C			TCGA-QH-A65R-01A-21D-A31L-08	TCGA-QH-A65R-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e039efea-ec31-482d-8c2f-8e002237230a	f8836150-9268-48d8-8991-037a21c25471	g.chr4:73944453A>C	ENST00000358602.4	-	31	7430	c.7314T>G	c.(7312-7314)acT>acG	p.T2438T	ANKRD17_ENST00000330838.6_Silent_p.T2187T|ANKRD17_ENST00000509867.2_Silent_p.T2325T	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	2438					interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			CTGACGTTCCAGTTTGCCTGA	0.483													15	46					0	0	1	0	0	C	73944453	A	C	73944453	2	2	376	1	0	0	0	0	0	0	0	1	642	175	7	5		5	ANKRD17	4	73944453	Silent	SNP	A	TCGA-QH-A65R-01A-21D-A31L-08	35144211	73944453	117209823	10	32545											
LRBA	987	broad.mit.edu	37	4	151271293	151271293	+	Missense_Mutation	SNP	C	C	A			TCGA-QH-A65R-01A-21D-A31L-08	TCGA-QH-A65R-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e039efea-ec31-482d-8c2f-8e002237230a	f8836150-9268-48d8-8991-037a21c25471	g.chr4:151271293C>A	ENST00000535741.1	-	48	7686	c.7213G>T	c.(7213-7215)Gtt>Ttt	p.V2405F	LRBA_ENST00000357115.3_Missense_Mutation_p.V2416F|LRBA_ENST00000503716.1_5'UTR|LRBA_ENST00000510413.1_Missense_Mutation_p.V2405F|LRBA_ENST00000507224.1_Missense_Mutation_p.V2405F			P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	2416	BEACH.					endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					TGGCAGGAAACAAATTCACTC	0.378													21	34					1.22574e-08	1.25127e-08	1	1	0	A	151271293	C	A	151271293	3	1	376	1	0	0	0	0	1	0	0	0	8976	478	17	5	1385	5	LRBA	4	151271293	Missense_Mutation	SNP	C	TCGA-QH-A65R-01A-21D-A31L-08	77326840	151271293	39882983	11	32546											
DNAJC21	134218	broad.mit.edu	37	5	34937583	34937583	+	Missense_Mutation	SNP	A	A	C			TCGA-QH-A65R-01A-21D-A31L-08	TCGA-QH-A65R-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e039efea-ec31-482d-8c2f-8e002237230a	f8836150-9268-48d8-8991-037a21c25471	g.chr5:34937583A>C	ENST00000382021.2	+	5	818	c.591A>C	c.(589-591)aaA>aaC	p.K197N	DNAJC21_ENST00000342382.4_Missense_Mutation_p.K197N|DNAJC21_ENST00000303525.7_Missense_Mutation_p.K197N	NM_194283.3	NP_919259.3	Q5F1R6	DJC21_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 21	197					protein folding	ribosome	heat shock protein binding|nucleic acid binding|unfolded protein binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(2)|upper_aerodigestive_tract(1)	21	all_lung(31;7.08e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)			AAGCAAGGAAAGAGAAGAATG	0.428													9	63					0	0	1	0	0	C	34937583	A	C	34937583	3	2	376	1	0	0	0	0	1	0	0	0	4667	69	3	5	609	5	DNAJC21	5	34937583	Missense_Mutation	SNP	A	TCGA-QH-A65R-01A-21D-A31L-08		34937583	145977677	12	32547											
SLCO4C1	353189	broad.mit.edu	37	5	101593012	101593012	+	Frame_Shift_Del	DEL	C	C	-	rs144337691		TCGA-QH-A65R-01A-21D-A31L-08	TCGA-QH-A65R-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e039efea-ec31-482d-8c2f-8e002237230a	f8836150-9268-48d8-8991-037a21c25471	g.chr5:101593012delC	ENST00000310954.6	-	8	1562	c.1276delG	c.(1276-1278)gctfs	p.A426fs		NM_180991.4	NP_851322.3	Q6ZQN7	SO4C1_HUMAN	solute carrier organic anion transporter family, member 4C1	426					cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		ATTAAAACAGCCCCTAATAAG	0.348													7	27	---	---	---	---						-	101593012	C	-	101593012	7	5	376	1	0	1	0	1	0	0	0	0	14785	739	26	0	922	0	SLCO4C1	5	101593012	Frame_Shift_Del	DEL	C	TCGA-QH-A65R-01A-21D-A31L-08	66655429	101593012	79322248	13	32548											
FAM50B	26240	broad.mit.edu	37	6	3850195	3850195	+	Silent	SNP	G	G	T			TCGA-QH-A65R-01A-21D-A31L-08	TCGA-QH-A65R-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e039efea-ec31-482d-8c2f-8e002237230a	f8836150-9268-48d8-8991-037a21c25471	g.chr6:3850195G>T	ENST00000380274.1	+	1	576	c.150G>T	c.(148-150)tcG>tcT	p.S50S	FAM50B_ENST00000380272.3_Silent_p.S50S			Q9Y247	FA50B_HUMAN	family with sequence similarity 50, member B	50						nucleus				cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(3)|urinary_tract(3)	17	Ovarian(93;0.0925)	all_hematologic(90;0.108)				AGAGGTTCTCGGCGCATTACG	0.642													3	40					1	1	1	1	0	T	3850195	G	T	3850195	2	4	376	1	0	0	0	0	0	0	0	1	5614	1103	39	5		5	FAM50B	6	3850195	Silent	SNP	G	TCGA-QH-A65R-01A-21D-A31L-08		3850195	167264872	14	32549											
MICAL1	64780	broad.mit.edu	37	6	109765438	109765438	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A65R-01A-21D-A31L-08	TCGA-QH-A65R-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e039efea-ec31-482d-8c2f-8e002237230a	f8836150-9268-48d8-8991-037a21c25471	g.chr6:109765438G>A	ENST00000368952.4	-	25	3507	c.3217C>T	c.(3217-3219)Cgc>Tgc	p.R1073C	MICAL1_ENST00000358577.3_Missense_Mutation_p.R968C|MICAL1_ENST00000358807.3_Missense_Mutation_p.R1054C			Q8TDZ2	MICA1_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 1	1054					cytoskeleton organization|signal transduction	cytoplasm|intermediate filament	SH3 domain binding|zinc ion binding			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574)		CTGAGCCTGCGCTCCTCCTGG	0.617													26	38					0	0	1	0	0	A	109765438	G	A	109765438	3	1	376	1	0	0	0	0	1	0	0	0	9617	1087	38	1	47	1	MICAL1	6	109765438	Missense_Mutation	SNP	G	TCGA-QH-A65R-01A-21D-A31L-08	105915243	109765438	61349629	15	32550											
PTDSS1	9791	broad.mit.edu	37	8	97321825	97321825	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A65R-01A-21D-A31L-08	TCGA-QH-A65R-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e039efea-ec31-482d-8c2f-8e002237230a	f8836150-9268-48d8-8991-037a21c25471	g.chr8:97321825G>A	ENST00000517309.1	+	9	1374	c.1048G>A	c.(1048-1050)Gta>Ata	p.V350I	PTDSS1_ENST00000455950.2_Missense_Mutation_p.V204I|PTDSS1_ENST00000522072.1_Missense_Mutation_p.V147I	NM_014754.1	NP_055569.1	P48651	PTSS1_HUMAN	phosphatidylserine synthase 1	350					phosphatidylserine biosynthetic process	integral to membrane	transferase activity			endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|stomach(1)	29	Breast(36;6.18e-05)				Phosphatidylserine(DB00144)	GTGCAAGCGCGTAGGAACACA	0.433													21	31					0	0	1	0	0	A	97321825	G	A	97321825	3	1	376	1	0	0	0	0	1	0	0	0	12785	1145	40	1	1082	1	PTDSS1	8	97321825	Missense_Mutation	SNP	G	TCGA-QH-A65R-01A-21D-A31L-08		97321825	49042197	16	32551											
OC90	729330	broad.mit.edu	37	8	133053772	133053772	+	Splice_Site	SNP	C	C	T			TCGA-QH-A65R-01A-21D-A31L-08	TCGA-QH-A65R-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e039efea-ec31-482d-8c2f-8e002237230a	f8836150-9268-48d8-8991-037a21c25471	g.chr8:133053772C>T	ENST00000262283.5	-	8	1031	c.932G>A	c.(931-933)aGc>aAc	p.S311N	OC90_ENST00000603859.1_Splice_Site_p.S115N|OC90_ENST00000443356.2_Splice_Site_p.S115N|OC90_ENST00000254627.3_Splice_Site_p.S115N			Q02509	OC90_HUMAN	otoconin 90	115					lipid catabolic process|phospholipid metabolic process		calcium ion binding|phospholipase A2 activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(23)|ovary(2)|prostate(1)|skin(1)	37	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)			ACTCACTTACCTGTCAGATTC	0.512													24	35					0	0	1	0	0	T	133053772	C	T	133053772	5	4	376	1	0	0	0	0	0	0	1	0	10862	695	24	2	1129	2	OC90	8	133053772	Splice_Site	SNP	C	TCGA-QH-A65R-01A-21D-A31L-08	35731947	133053772	13310250	17	32552											
EPPK1	83481	broad.mit.edu	37	8	144942068	144942068	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A65R-01A-21D-A31L-08	TCGA-QH-A65R-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e039efea-ec31-482d-8c2f-8e002237230a	f8836150-9268-48d8-8991-037a21c25471	g.chr8:144942068C>T	ENST00000525985.1	-	2	5425	c.5354G>A	c.(5353-5355)cGc>cAc	p.R1785H				P58107	EPIPL_HUMAN	epiplakin 1	1785						cytoplasm|cytoskeleton	protein binding|structural molecule activity	p.R1785H(1)		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)			CCTCCCCACGCGCATTTTTGC	0.512													4	56					0	0	1	0	0	T	144942068	C	T	144942068	3	4	376	1	0	0	0	0	1	0	0	0	5218	768	27	1	1912	1	EPPK1	8	144942068	Missense_Mutation	SNP	C	TCGA-QH-A65R-01A-21D-A31L-08	11888296	144942068	1421954	18	32553											
ALG2	85365	broad.mit.edu	37	9	101983309	101983309	+	Silent	SNP	T	T	G			TCGA-QH-A65R-01A-21D-A31L-08	TCGA-QH-A65R-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e039efea-ec31-482d-8c2f-8e002237230a	f8836150-9268-48d8-8991-037a21c25471	g.chr9:101983309T>G	ENST00000319033.6	-	1	20	c.21A>C	c.(19-21)gtA>gtC	p.V7V	ALG2_ENST00000476832.1_Intron			Q9H553	ALG2_HUMAN	ALG2, alpha-1,3/1,6-mannosyltransferase	0					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein glycosylation in endoplasmic reticulum|protein N-linked glycosylation via asparagine|response to calcium ion	endoplasmic reticulum membrane|integral to membrane|membrane fraction|nucleus|perinuclear region of cytoplasm	alpha-1,3-mannosyltransferase activity|calcium-dependent protein binding|glycolipid 3-alpha-mannosyltransferase activity|protein anchor|protein heterodimerization activity|protein N-terminus binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(11)|ovary(2)|prostate(2)	22		Acute lymphoblastic leukemia(62;0.0559)				GGGAGCCATGTACAAGTTTTA	0.448													5	213					0	0	1	0	0	G	101983309	T	G	101983309	2	3	376	1	0	0	0	0	0	0	0	1	515	1653	57	5		5	ALG2	9	101983309	Silent	SNP	T	TCGA-QH-A65R-01A-21D-A31L-08		101983309	39230122	19	32554											
DFNB31	25861	broad.mit.edu	37	9	117266884	117266884	+	Silent	SNP	G	G	A			TCGA-QH-A65R-01A-21D-A31L-08	TCGA-QH-A65R-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e039efea-ec31-482d-8c2f-8e002237230a	f8836150-9268-48d8-8991-037a21c25471	g.chr9:117266884G>A	ENST00000362057.3	-	1	366	c.198C>T	c.(196-198)caC>caT	p.H66H	DFNB31_ENST00000374057.3_Silent_p.H66H	NM_001173425.1|NM_015404.3	NP_001166896.1|NP_056219	Q9P202	WHRN_HUMAN	deafness, autosomal recessive 31	66					inner ear receptor stereocilium organization|retina homeostasis|sensory perception of light stimulus|sensory perception of sound	cytoplasm|growth cone|stereocilium				central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|ovary(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TGCGGCGCGCGTGGTAAGCGT	0.677													11	48					0	0	1	0	0	A	117266884	G	A	117266884	2	1	376	1	0	0	0	0	0	0	0	1	4483	1136	40	1		1	DFNB31	9	117266884	Silent	SNP	G	TCGA-QH-A65R-01A-21D-A31L-08	15283575	117266884	23946547	20	32555											
GAPVD1	26130	broad.mit.edu	37	9	128109218	128109218	+	Missense_Mutation	SNP	C	C	G			TCGA-QH-A65R-01A-21D-A31L-08	TCGA-QH-A65R-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e039efea-ec31-482d-8c2f-8e002237230a	f8836150-9268-48d8-8991-037a21c25471	g.chr9:128109218C>G	ENST00000470056.1	+	17	3246	c.3086C>G	c.(3085-3087)aCa>aGa	p.T1029R	GAPVD1_ENST00000495955.1_Missense_Mutation_p.T1056R|GAPVD1_ENST00000265956.4_Missense_Mutation_p.T1030R|GAPVD1_ENST00000394104.2_Missense_Mutation_p.T1056R|GAPVD1_ENST00000394083.2_Missense_Mutation_p.T1008R|GAPVD1_ENST00000394105.2_Missense_Mutation_p.T1083R|GAPVD1_ENST00000297933.6_Missense_Mutation_p.T1056R|GAPVD1_ENST00000312123.9_Missense_Mutation_p.T1035R			Q14C86	GAPD1_HUMAN	GTPase activating protein and VPS9 domains 1	1056					endocytosis|regulation of protein transport|regulation of small GTPase mediated signal transduction|signal transduction	cytosol|endosome|membrane	GTPase activating protein binding|GTPase activator activity|guanyl-nucleotide exchange factor activity			central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						TATGAAAGTACAGGTGATAAT	0.388													17	23					0	0	1	0	0	G	128109218	C	G	128109218	3	3	376	1	0	0	0	0	1	0	0	0	6279	478	17	5	3318	5	GAPVD1	9	128109218	Missense_Mutation	SNP	C	TCGA-QH-A65R-01A-21D-A31L-08	10842334	128109218	13104213	21	32556											
NRP1	8829	broad.mit.edu	37	10	33481224	33481224	+	Missense_Mutation	SNP	T	T	C			TCGA-QH-A65R-01A-21D-A31L-08	TCGA-QH-A65R-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e039efea-ec31-482d-8c2f-8e002237230a	f8836150-9268-48d8-8991-037a21c25471	g.chr10:33481224T>C	ENST00000265371.4	-	14	2572	c.2047A>G	c.(2047-2049)Att>Gtt	p.I683V	NRP1_ENST00000395995.1_Missense_Mutation_p.I683V|NRP1_ENST00000374875.1_Missense_Mutation_p.I495V|NRP1_ENST00000374867.2_Missense_Mutation_p.I683V			O14786	NRP1_HUMAN	neuropilin 1	683	MAM.				axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation	extracellular region|integral to membrane|plasma membrane	growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	48					Palifermin(DB00039)|Pegaptanib(DB04895)	TGATCCTGAATGGGTCCCGTC	0.507													115	202					0	0	1	0	0	C	33481224	T	C	33481224	3	2	376	1	0	0	0	0	1	0	0	0	10708	1464	51	3	744	3	NRP1	10	33481224	Missense_Mutation	SNP	T	TCGA-QH-A65R-01A-21D-A31L-08		33481224	102053523	22	32557											
PRF1	5551	broad.mit.edu	37	10	72357828	72357828	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A65R-01A-21D-A31L-08	TCGA-QH-A65R-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e039efea-ec31-482d-8c2f-8e002237230a	f8836150-9268-48d8-8991-037a21c25471	g.chr10:72357828C>T	ENST00000441259.1	-	3	1809	c.1649G>A	c.(1648-1650)cGg>cAg	p.R550Q	PRF1_ENST00000373209.2_Missense_Mutation_p.R550Q	NM_001083116.1|NM_005041.4	NP_001076585.1|NP_005032.2	P14222	PERF_HUMAN	perforin 1 (pore forming protein)	550					apoptosis|cellular defense response|cytolysis|defense response to tumor cell|defense response to virus|immune response to tumor cell|protein homooligomerization	cytolytic granule|endosome lumen|extracellular region|integral to membrane|plasma membrane	calcium ion binding|protein binding|wide pore channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(3)|urinary_tract(3)	23						GGCCCCACTCCGGTTTCCTGG	0.582			M			"various leukaemia, lymphoma"	Type 2 familial hemophagocytic lymphohistiocytosis		Familial Hemophagocytic Lymphohistiocytosis				26	37					0	0	1	0	0	T	72357828	C	T	72357828	3	4	376	1	0	0	0	0	1	0	0	0	12530	652	23	1	22	1	PRF1	10	72357828	Missense_Mutation	SNP	C	TCGA-QH-A65R-01A-21D-A31L-08	38876604	72357828	63176919	23	32558											
BTBD11	121551	broad.mit.edu	37	12	108004038	108004038	+	Missense_Mutation	SNP	T	T	A			TCGA-QH-A65R-01A-21D-A31L-08	TCGA-QH-A65R-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e039efea-ec31-482d-8c2f-8e002237230a	f8836150-9268-48d8-8991-037a21c25471	g.chr12:108004038T>A	ENST00000280758.5	+	5	2243	c.1715T>A	c.(1714-1716)cTg>cAg	p.L572Q	BTBD11_ENST00000420571.2_Missense_Mutation_p.L572Q|BTBD11_ENST00000357167.4_Missense_Mutation_p.L109Q|RP11-128P10.1_ENST00000548473.1_RNA|BTBD11_ENST00000490090.2_Missense_Mutation_p.L572Q	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11	572						integral to membrane	DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						AAGCAGGACCTGGGTTTCCGG	0.562											OREG0022090	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	167					0	0	1	0	0	A	108004038	T	A	108004038	3	1	376	1	0	0	0	0	1	0	0	0	1541	1580	55	5	1838	5	BTBD11	12	108004038	Missense_Mutation	SNP	T	TCGA-QH-A65R-01A-21D-A31L-08		108004038	25847857	24	32559											
FRY	10129	broad.mit.edu	37	13	32805370	32805371	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-QH-A65R-01A-21D-A31L-08	TCGA-QH-A65R-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e039efea-ec31-482d-8c2f-8e002237230a	f8836150-9268-48d8-8991-037a21c25471	g.chr13:32805370_32805371delAA	ENST00000380250.3	+	41	5956_5957	c.5460_5461delAA	c.(5458-5463)tcaaagfs	p.K1821fs		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	1821					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		ATCAAAATTCAAAGAGTGCTGA	0.351													10	50	---	---	---	---						-	32805371	AA	-	32805370	7	5	376	1	0	1	0	1	0	0	0	0	6098	117	5	0	5622	0	FRY	13	32805370	Frame_Shift_Del	DEL	AA	TCGA-QH-A65R-01A-21D-A31L-08		32805370	82364508	25	32560											
BCL11B	64919	broad.mit.edu	37	14	99641314	99641314	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A65R-01A-21D-A31L-08	TCGA-QH-A65R-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e039efea-ec31-482d-8c2f-8e002237230a	f8836150-9268-48d8-8991-037a21c25471	g.chr14:99641314C>T	ENST00000345514.2	-	3	1912	c.1646G>A	c.(1645-1647)cGc>cAc	p.R549H	BCL11B_ENST00000443726.2_Missense_Mutation_p.R426H|BCL11B_ENST00000357195.3_Missense_Mutation_p.R620H	NM_001282238.1|NM_022898.1	NP_001269167.1|NP_075049.1	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B (zinc finger protein)	620	Glu-rich.					nucleus	zinc ion binding			NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		GAAGGCGCCGCGCTTCTGCTT	0.751			T	TLX3	T-ALL								5	11					0	0	1	0	0	T	99641314	C	T	99641314	3	4	376	1	0	0	0	0	1	0	0	0	1362	768	27	1	829	1	BCL11B	14	99641314	Missense_Mutation	SNP	C	TCGA-QH-A65R-01A-21D-A31L-08		99641314	7708226	26	32561											
CCNF	899	broad.mit.edu	37	16	2506782	2506782	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A65R-01A-21D-A31L-08	TCGA-QH-A65R-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e039efea-ec31-482d-8c2f-8e002237230a	f8836150-9268-48d8-8991-037a21c25471	g.chr16:2506782G>A	ENST00000397066.4	+	17	2210	c.2122G>A	c.(2122-2124)Gca>Aca	p.A708T	RP11-715J22.4_ENST00000566085.1_lincRNA	NM_001761.2	NP_001752.2	P41002	CCNF_HUMAN	cyclin F	708	PEST.				cell division|mitosis|negative regulation of centrosome duplication|protein ubiquitination|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	centriole|nucleus|SCF ubiquitin ligase complex	protein binding			breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(2)|lung(5)|prostate(4)|skin(1)	20		Ovarian(90;0.17)				CGTCAGCACCGCAAGTCCCAC	0.662													5	92					0	0	1	0	0	A	2506782	G	A	2506782	3	1	376	1	0	0	0	0	1	0	0	0	2944	1087	38	1	2188	1	CCNF	16	2506782	Missense_Mutation	SNP	G	TCGA-QH-A65R-01A-21D-A31L-08		2506782	87847971	27	32562											
NEURL4	84461	broad.mit.edu	37	17	7232363	7232363	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A65R-01A-21D-A31L-08	TCGA-QH-A65R-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e039efea-ec31-482d-8c2f-8e002237230a	f8836150-9268-48d8-8991-037a21c25471	g.chr17:7232363C>T	ENST00000399464.2	-	1	284	c.269G>A	c.(268-270)cGc>cAc	p.R90H	NEURL4_ENST00000570460.1_Missense_Mutation_p.R90H|NEURL4_ENST00000315614.7_Missense_Mutation_p.R90H	NM_032442.2	NP_115818.2			neuralized E3 ubiquitin protein ligase 4											central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GCGGTCGATGCGGACGGTGAA	0.667													3	40					0	0	1	0	0	T	7232363	C	T	7232363	3	4	376	1	0	0	0	0	1	0	0	0	10394	768	27	1	4535	1	NEURL4	17	7232363	Missense_Mutation	SNP	C	TCGA-QH-A65R-01A-21D-A31L-08		7232363	73962847	28	32563											
PFAS	5198	broad.mit.edu	37	17	8159859	8159859	+	Translation_Start_Site	SNP	A	A	T			TCGA-QH-A65R-01A-21D-A31L-08	TCGA-QH-A65R-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e039efea-ec31-482d-8c2f-8e002237230a	f8836150-9268-48d8-8991-037a21c25471	g.chr17:8159859A>T	ENST00000545834.1	+	0	898				PFAS_ENST00000314666.6_Missense_Mutation_p.E280V			O15067	PUR4_HUMAN	phosphoribosylformylglycinamidine synthase						'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process	cytosol	ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding			central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	CAGGGAAAGGAAGTCCGATTC	0.582													5	99					0	0	1	0	0	T	8159859	A	T	8159859	1	4	376	1	0	0	0	0	0	0	0	0	11802	246	9	5		5	PFAS	17	8159859	Translation_Start_Site	SNP	A	TCGA-QH-A65R-01A-21D-A31L-08	927496	8159859	73035351	29	32564											
MYH8	4626	broad.mit.edu	37	17	10300223	10300223	+	Missense_Mutation	SNP	G	G	A	rs150344258		TCGA-QH-A65R-01A-21D-A31L-08	TCGA-QH-A65R-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e039efea-ec31-482d-8c2f-8e002237230a	f8836150-9268-48d8-8991-037a21c25471	g.chr17:10300223G>A	ENST00000403437.2	-	31	4353	c.4259C>T	c.(4258-4260)aCg>aTg	p.T1420M	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1420					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						CCGCTGCTTCGTCTTCTCAAG	0.493									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				9	67					0	0	1	0	0	A	10300223	G	A	10300223	3	1	376	1	0	0	0	0	1	0	0	0	10089	1145	40	1	1594	1	MYH8	17	10300223	Missense_Mutation	SNP	G	TCGA-QH-A65R-01A-21D-A31L-08	2140364	10300223	70894987	30	32565											
MYO18A	399687	broad.mit.edu	37	17	27448160	27448160	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A65R-01A-21D-A31L-08	TCGA-QH-A65R-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e039efea-ec31-482d-8c2f-8e002237230a	f8836150-9268-48d8-8991-037a21c25471	g.chr17:27448160C>T	ENST00000527372.1	-	6	1621	c.1441G>A	c.(1441-1443)Gca>Aca	p.A481T	MYO18A_ENST00000354329.4_Missense_Mutation_p.A481T|MYO18A_ENST00000531253.1_Missense_Mutation_p.A481T|MYO18A_ENST00000533112.1_Missense_Mutation_p.A481T	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	481	Myosin head-like.				anti-apoptosis|DNA metabolic process	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity			NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			GCCCTGTATGCGGTCTGGGCC	0.587													3	15					0	0	1	0	0	T	27448160	C	T	27448160	3	4	376	1	0	0	0	0	1	0	0	0	10113	768	27	1	4871	1	MYO18A	17	27448160	Missense_Mutation	SNP	C	TCGA-QH-A65R-01A-21D-A31L-08	17147937	27448160	53747050	31	32566											
KRT24	192666	broad.mit.edu	37	17	38859836	38859836	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A65R-01A-21D-A31L-08	TCGA-QH-A65R-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e039efea-ec31-482d-8c2f-8e002237230a	f8836150-9268-48d8-8991-037a21c25471	g.chr17:38859836C>T	ENST00000264651.2	-	1	166	c.110G>A	c.(109-111)gGc>gAc	p.G37D		NM_019016.2	NP_061889.2	Q2M2I5	K1C24_HUMAN	keratin 24	37	Gly-rich.|Head.					cytoplasm|intermediate filament	structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00526)				GGCCGAGCTGCCCCCCAGACC	0.662													46	68					0	0	1	0	0	T	38859836	C	T	38859836	3	4	376	1	0	0	0	0	1	0	0	0	8504	739	26	2	1499	2	KRT24	17	38859836	Missense_Mutation	SNP	C	TCGA-QH-A65R-01A-21D-A31L-08	11411676	38859836	42335374	32	32567											
STAT5A	6776	broad.mit.edu	37	17	40441527	40441527	+	Missense_Mutation	SNP	A	A	G			TCGA-QH-A65R-01A-21D-A31L-08	TCGA-QH-A65R-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e039efea-ec31-482d-8c2f-8e002237230a	f8836150-9268-48d8-8991-037a21c25471	g.chr17:40441527A>G	ENST00000345506.4	+	3	740	c.98A>G	c.(97-99)tAc>tGc	p.Y33C	STAT5A_ENST00000452307.2_Missense_Mutation_p.Y33C|STAT5A_ENST00000546010.2_Missense_Mutation_p.Y33C|STAT5A_ENST00000590949.1_Missense_Mutation_p.Y33C|STAT5A_ENST00000588868.1_Missense_Mutation_p.Y33C	NM_003152.3	NP_003143.2	P42229	STA5A_HUMAN	signal transducer and activator of transcription 5A	33					2-oxoglutarate metabolic process|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|oxaloacetate metabolic process|succinate metabolic process|taurine metabolic process|valine metabolic process	cytosol|nucleoplasm	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	p.Y33F(1)		central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	14		all_cancers(22;1.56e-06)|all_epithelial(22;3.17e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.128)		GTCCGGCACTACTTGGCCCAG	0.652													11	87					0	0	1	0	0	G	40441527	A	G	40441527	3	3	376	1	0	0	0	0	1	0	0	0	15324	391	14	3	100	3	STAT5A	17	40441527	Missense_Mutation	SNP	A	TCGA-QH-A65R-01A-21D-A31L-08	1581691	40441527	40753683	33	32568											
BPTF	2186	broad.mit.edu	37	17	65941667	65941667	+	Silent	SNP	C	C	T			TCGA-QH-A65R-01A-21D-A31L-08	TCGA-QH-A65R-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e039efea-ec31-482d-8c2f-8e002237230a	f8836150-9268-48d8-8991-037a21c25471	g.chr17:65941667C>T	ENST00000321892.4	+	23	7282	c.7221C>T	c.(7219-7221)ccC>ccT	p.P2407P	BPTF_ENST00000424123.3_Silent_p.P2268P|BPTF_ENST00000335221.5_Silent_p.P2407P|BPTF_ENST00000306378.6_Silent_p.P2281P			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	2407					brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			agccccagccccaaacccagc	0.557													14	18					0	0	1	0	0	T	65941667	C	T	65941667	2	4	376	1	0	0	0	0	0	0	0	1	1497	610	22	2		2	BPTF	17	65941667	Silent	SNP	C	TCGA-QH-A65R-01A-21D-A31L-08	25500140	65941667	15253543	34	32569											
C17orf70	80233	broad.mit.edu	37	17	79514217	79514217	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A65R-01A-21D-A31L-08	TCGA-QH-A65R-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e039efea-ec31-482d-8c2f-8e002237230a	f8836150-9268-48d8-8991-037a21c25471	g.chr17:79514217C>T	ENST00000537152.1	-	5	1963	c.1438G>A	c.(1438-1440)Gtc>Atc	p.V480I	C17orf70_ENST00000425898.2_Missense_Mutation_p.V280I|C17orf70_ENST00000327787.8_Missense_Mutation_p.V631I	NM_025161.5	NP_079437.5	Q0VG06	FP100_HUMAN	chromosome 17 open reading frame 70	631					DNA repair	cytoplasm|intermediate filament cytoskeleton|nucleoplasm	DNA binding			breast(1)|central_nervous_system(1)|endometrium(1)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	19	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)			TCGGGCAGGACGTCGGAGGGG	0.657													36	68					0	0	1	0	0	T	79514217	C	T	79514217	3	4	376	1	0	0	0	0	1	0	0	0	1886	536	19	1	774	1	C17orf70	17	79514217	Missense_Mutation	SNP	C	TCGA-QH-A65R-01A-21D-A31L-08	13572550	79514217	1680993	35	32570											
ATP4A	495	broad.mit.edu	37	19	36046221	36046221	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A65R-01A-21D-A31L-08	TCGA-QH-A65R-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e039efea-ec31-482d-8c2f-8e002237230a	f8836150-9268-48d8-8991-037a21c25471	g.chr19:36046221C>T	ENST00000262623.3	-	15	2201	c.2173G>A	c.(2173-2175)Gtc>Atc	p.V725I		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	725					ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)	TCCCCCGTGACGGCCACAATC	0.632													4	35					0	0	1	0	0	T	36046221	C	T	36046221	3	4	376	1	0	0	0	0	1	0	0	0	1144	536	19	1	966	1	ATP4A	19	36046221	Missense_Mutation	SNP	C	TCGA-QH-A65R-01A-21D-A31L-08		36046221	23082762	36	32571											
H2BFWT	158983	broad.mit.edu	37	X	103267977	103267977	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A65R-01A-21D-A31L-08	TCGA-QH-A65R-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e039efea-ec31-482d-8c2f-8e002237230a	f8836150-9268-48d8-8991-037a21c25471	g.chrX:103267977G>A	ENST00000217926.5	-	1	282	c.256C>T	c.(256-258)Cgc>Tgc	p.R86C		NM_001002916.3	NP_001002916.3	Q7Z2G1	H2BWT_HUMAN	H2B histone family, member W, testis-specific	86					nucleosome assembly	nuclear membrane|nucleosome	DNA binding			breast(2)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	16						AGCACCCGGCGGAAATAGGTG	0.622													16	76					0	0	1	0	0	A	103267977	G	A	103267977	3	1	376	1	0	0	0	0	1	0	0	0	6973	1116	39	1	279	1	H2BFWT	23	103267977	Missense_Mutation	SNP	G	TCGA-QH-A65R-01A-21D-A31L-08		103267977	52002583	37	32572											
UPF3B	65109	broad.mit.edu	37	X	118979241	118979241	+	Missense_Mutation	SNP	A	A	T			TCGA-QH-A65R-01A-21D-A31L-08	TCGA-QH-A65R-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e039efea-ec31-482d-8c2f-8e002237230a	f8836150-9268-48d8-8991-037a21c25471	g.chrX:118979241A>T	ENST00000276201.2	-	4	458	c.389T>A	c.(388-390)aTa>aAa	p.I130K	UPF3B_ENST00000345865.2_Missense_Mutation_p.I130K	NM_080632.2	NP_542199.1	Q9BZI7	REN3B_HUMAN	UPF3 regulator of nonsense transcripts homolog B (yeast)	130	Necessary for interaction with UPF2.|Sufficient for association with EJC core.				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation|termination of RNA polymerase II transcription	cytosol|exon-exon junction complex|nucleoplasm	mRNA binding|nucleocytoplasmic transporter activity|nucleotide binding|protein binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|prostate(1)	30						AAATTCTACTATAGCGGGATA	0.348													13	57					0	0	1	0	0	T	118979241	A	T	118979241	3	4	376	1	0	0	0	0	1	0	0	0	17066	449	16	4	1094	4	UPF3B	23	118979241	Missense_Mutation	SNP	A	TCGA-QH-A65R-01A-21D-A31L-08	15711264	118979241	36291319	38	32573											
CUL4B	8450	broad.mit.edu	37	X	119677596	119677599	+	Frame_Shift_Del	DEL	TAAG	TAAG	-			TCGA-QH-A65R-01A-21D-A31L-08	TCGA-QH-A65R-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e039efea-ec31-482d-8c2f-8e002237230a	f8836150-9268-48d8-8991-037a21c25471	g.chrX:119677596_119677599delTAAG	ENST00000371322.5	-	8	1300_1303	c.1239_1242delCTTA	c.(1237-1242)tacttafs	p.YL413fs	CUL4B_ENST00000404115.3_Frame_Shift_Del_p.YL431fs|CUL4B_ENST00000336592.6_Frame_Shift_Del_p.YL418fs	NM_001079872.1	NP_001073341.1	Q13620	CUL4B_HUMAN	cullin 4B	431					cell cycle|DNA repair|ubiquitin-dependent protein catabolic process	Cul4B-RING ubiquitin ligase complex|nucleus	protein binding|ubiquitin protein ligase binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						TGGTCTGATCTAAGTAAGTAATAA	0.343													15	62	---	---	---	---						-	119677599	TAAG	-	119677596	7	5	376	1	0	1	0	1	0	0	0	0	4081	1519	53	0	1497	0	CUL4B	23	119677596	Frame_Shift_Del	DEL	TAAG	TCGA-QH-A65R-01A-21D-A31L-08	698355	119677596	35592964	39	32574											
ZIC3	7547	broad.mit.edu	37	X	136651129	136651129	+	Nonsense_Mutation	SNP	A	A	T			TCGA-QH-A65R-01A-21D-A31L-08	TCGA-QH-A65R-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e039efea-ec31-482d-8c2f-8e002237230a	f8836150-9268-48d8-8991-037a21c25471	g.chrX:136651129A>T	ENST00000287538.5	+	2	1679	c.1129A>T	c.(1129-1131)Aag>Tag	p.K377*	ZIC3_ENST00000478471.1_3'UTR|ZIC3_ENST00000370606.3_Nonsense_Mutation_p.K377*	NM_003413.3	NP_003404.1	O60481	ZIC3_HUMAN	Zic family member 3	377					cell differentiation|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|soft_tissue(2)|urinary_tract(1)	37	Acute lymphoblastic leukemia(192;0.000127)					CGACCGTAAGAAGCACATGCA	0.493													10	337					0	0	1	0	0	T	136651129	A	T	136651129	4	4	376	1	0	0	0	0	0	1	0	0	17738	247	9	5	1135	5	ZIC3	23	136651129	Nonsense_Mutation	SNP	A	TCGA-QH-A65R-01A-21D-A31L-08	16973533	136651129	18619431	40	32575											
TMEM17	200728	broad.mit.edu	37	2	62729687	62729687	+	Splice_Site	SNP	T	T	C			TCGA-QH-A65S-01A-11D-A29Q-08	TCGA-QH-A65S-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05be7524-29b3-47c4-95bd-eecb53e97770	f3762aaf-0169-420b-93dd-2ebd5afe4412	g.chr2:62729687T>C	ENST00000335390.5	-	3	416		c.e3-2			NM_198276.2	NP_938017.2	Q86X19	TMM17_HUMAN	transmembrane protein 17							integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	9	Lung NSC(7;0.0274)|all_lung(7;0.0568)		LUSC - Lung squamous cell carcinoma(7;1.31e-05)|Epithelial(17;0.169)			GATTGAATACTAAAAGAAAAG	0.308													5	18					0	0	1	0	0	C	62729687	T	C	62729687	5	2	377	1	0	0	0	0	0	0	1	0	16145	1536	53	3	401	3	TMEM17	2	62729687	Splice_Site	SNP	T	TCGA-QH-A65S-01A-11D-A29Q-08		62729687	180469686	1	32576											
RPIA	22934	broad.mit.edu	37	2	89037526	89037526	+	Silent	SNP	C	C	T			TCGA-QH-A65S-01A-11D-A29Q-08	TCGA-QH-A65S-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05be7524-29b3-47c4-95bd-eecb53e97770	f3762aaf-0169-420b-93dd-2ebd5afe4412	g.chr2:89037526C>T	ENST00000283646.4	+	8	826	c.771C>T	c.(769-771)atC>atT	p.I257I		NM_144563.2	NP_653164.2	P49247	RPIA_HUMAN	ribose 5-phosphate isomerase A	257					pentose-phosphate shunt, non-oxidative branch	cytosol	ribose-5-phosphate isomerase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|skin(1)	18		Acute lymphoblastic leukemia(2;0.000456)|all_hematologic(2;0.00287)				GGAATTTTATCTTGGACTGGA	0.433													19	39					0	0	1	0	0	T	89037526	C	T	89037526	2	4	377	1	0	0	0	0	0	0	0	1	13605	903	32	2		2	RPIA	2	89037526	Silent	SNP	C	TCGA-QH-A65S-01A-11D-A29Q-08	26307839	89037526	154161847	2	32577											
NEB	4703	broad.mit.edu	37	2	152502668	152502668	+	Frame_Shift_Del	DEL	T	T	-			TCGA-QH-A65S-01A-11D-A29Q-08	TCGA-QH-A65S-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05be7524-29b3-47c4-95bd-eecb53e97770	f3762aaf-0169-420b-93dd-2ebd5afe4412	g.chr2:152502668delT	ENST00000397345.3	-	55	7714	c.7512delA	c.(7510-7512)aaafs	p.K2504fs	NEB_ENST00000409198.1_Frame_Shift_Del_p.K2504fs|NEB_ENST00000172853.10_Frame_Shift_Del_p.K2504fs|NEB_ENST00000603639.1_Frame_Shift_Del_p.K2504fs|NEB_ENST00000604864.1_Frame_Shift_Del_p.K2504fs|NEB_ENST00000427231.2_Frame_Shift_Del_p.K2504fs	NM_001164508.1	NP_001157980	P20929	NEBU_HUMAN	nebulin	2504					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TTAAGTTTGCTTTAGCCAGAA	0.328													2	4	---	---	---	---						-	152502668	T	-	152502668	7	5	377	1	0	1	0	1	0	0	0	0	10349	1606	56	0	18686	0	NEB	2	152502668	Frame_Shift_Del	DEL	T	TCGA-QH-A65S-01A-11D-A29Q-08	63465142	152502668	90696705	3	32578											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-QH-A65S-01A-11D-A29Q-08	TCGA-QH-A65S-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05be7524-29b3-47c4-95bd-eecb53e97770	f3762aaf-0169-420b-93dd-2ebd5afe4412	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	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								13	19					0	0	1	0	0	T	209113112	C	T	209113112	3	4	377	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-QH-A65S-01A-11D-A29Q-08	56610444	209113112	34086261	4	32579											
ALPP	250	broad.mit.edu	37	2	233245025	233245025	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A65S-01A-11D-A29Q-08	TCGA-QH-A65S-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05be7524-29b3-47c4-95bd-eecb53e97770	f3762aaf-0169-420b-93dd-2ebd5afe4412	g.chr2:233245025C>T	ENST00000392027.2	+	6	1056	c.787C>T	c.(787-789)Cgc>Tgc	p.R263C	AC068134.8_ENST00000441266.1_RNA|AC068134.8_ENST00000439072.1_RNA	NM_001632.3	NP_001623.3	P05187	PPB1_HUMAN	alkaline phosphatase, placental	263			R -> H (in dbSNP:rs2853378).			anchored to membrane|cell surface|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding	p.R263C(1)		NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)		GCTGGCGAAGCGCCAGGTGAT	0.667													17	173					0	0	1	0	0	T	233245025	C	T	233245025	3	4	377	1	0	0	0	0	1	0	0	0	544	768	27	1	809	1	ALPP	2	233245025	Missense_Mutation	SNP	C	TCGA-QH-A65S-01A-11D-A29Q-08	24131913	233245025	9954348	5	32580											
ALPPL2	251	broad.mit.edu	37	2	233273106	233273106	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A65S-01A-11D-A29Q-08	TCGA-QH-A65S-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05be7524-29b3-47c4-95bd-eecb53e97770	f3762aaf-0169-420b-93dd-2ebd5afe4412	g.chr2:233273106C>T	ENST00000295453.3	+	6	830	c.778C>T	c.(778-780)Cac>Tac	p.H260Y		NM_031313.2	NP_112603.2	P10696	PPBN_HUMAN	alkaline phosphatase, placental-like 2	260				H -> R (in Ref. 8; AAH14139).	phosphorylation	anchored to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			breast(2)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(1)	13		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	Amifostine(DB01143)|Levamisole(DB00848)	GCTGGCGAAGCACCAGGTGAT	0.662													4	11					0	0	1	0	0	T	233273106	C	T	233273106	3	4	377	1	0	0	0	0	1	0	0	0	545	710	25	2	800	2	ALPPL2	2	233273106	Missense_Mutation	SNP	C	TCGA-QH-A65S-01A-11D-A29Q-08	28081	233273106	9926267	6	32581											
SETMAR	6419	broad.mit.edu	37	3	4355172	4355172	+	Silent	SNP	C	C	G			TCGA-QH-A65S-01A-11D-A29Q-08	TCGA-QH-A65S-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05be7524-29b3-47c4-95bd-eecb53e97770	f3762aaf-0169-420b-93dd-2ebd5afe4412	g.chr3:4355172C>G	ENST00000358065.4	+	2	814	c.747C>G	c.(745-747)gcC>gcG	p.A249A	SETMAR_ENST00000430981.1_Silent_p.A249A|SETMAR_ENST00000425863.1_Intron|SUMF1_ENST00000534863.1_Intron	NM_006515.3	NP_006506.3	Q53H47	SETMR_HUMAN	SET domain and mariner transposase fusion gene	236	Histone-lysine N-methyltransferase.|SET.				DNA integration|DNA repair|transposition, DNA-mediated	chromosome|nucleus	DNA binding|endonuclease activity|histone-lysine N-methyltransferase activity|transposase activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)	9		Melanoma(143;0.0657)		Epithelial(13;0.0025)|OV - Ovarian serous cystadenocarcinoma(96;0.011)|all cancers(10;0.0114)		TTTTTGCAGCCAAAGATATTG	0.373								Chromatin Structure					7	31					0	0	1	0	0	G	4355172	C	G	4355172	2	3	377	1	0	0	0	0	0	0	0	1	14194	581	21	5		5	SETMAR	3	4355172	Silent	SNP	C	TCGA-QH-A65S-01A-11D-A29Q-08		4355172	193667258	7	32582											
SETMAR	6419	broad.mit.edu	37	3	4355408	4355409	+	Frame_Shift_Ins	INS	-	-	T			TCGA-QH-A65S-01A-11D-A29Q-08	TCGA-QH-A65S-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05be7524-29b3-47c4-95bd-eecb53e97770	f3762aaf-0169-420b-93dd-2ebd5afe4412	g.chr3:4355408_4355409insT	ENST00000358065.4	+	2	1050_1051	c.983_984insT	c.(982-987)ccttctfs	p.S329fs	SUMF1_ENST00000534863.1_Intron|SETMAR_ENST00000425863.1_Frame_Shift_Ins_p.S190fs|SETMAR_ENST00000430981.1_Frame_Shift_Ins_p.S329fs	NM_006515.3	NP_006506.3	Q53H47	SETMR_HUMAN	SET domain and mariner transposase fusion gene	316	Histone-lysine N-methyltransferase.				DNA integration|DNA repair|transposition, DNA-mediated	chromosome|nucleus	DNA binding|endonuclease activity|histone-lysine N-methyltransferase activity|transposase activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)	9		Melanoma(143;0.0657)		Epithelial(13;0.0025)|OV - Ovarian serous cystadenocarcinoma(96;0.011)|all cancers(10;0.0114)		GGCTCAGCCCCTTCTGTGTTCC	0.515								Chromatin Structure					8	26	---	---	---	---						T	4355409	-	T	4355408	7	5	377	1	0	1	1	0	0	0	0	0	14194	681	24	0	989	0	SETMAR	3	4355408	Frame_Shift_Ins	INS	-	TCGA-QH-A65S-01A-11D-A29Q-08	236	4355408	193667022	8	32583											
FLNB	2317	broad.mit.edu	37	3	58120353	58120353	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A65S-01A-11D-A29Q-08	TCGA-QH-A65S-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05be7524-29b3-47c4-95bd-eecb53e97770	f3762aaf-0169-420b-93dd-2ebd5afe4412	g.chr3:58120353G>A	ENST00000357272.4	+	27	4690	c.4525G>A	c.(4525-4527)Gtc>Atc	p.V1509I	FLNB_ENST00000429972.2_Missense_Mutation_p.V1509I|FLNB_ENST00000490882.1_Missense_Mutation_p.V1540I|FLNB_ENST00000493452.1_Missense_Mutation_p.V1340I|FLNB_ENST00000348383.5_Missense_Mutation_p.V1509I|FLNB_ENST00000358537.3_Missense_Mutation_p.V1509I|FLNB_ENST00000295956.4_Missense_Mutation_p.V1509I|FLNB_ENST00000419752.2_Missense_Mutation_p.V1340I			O75369	FLNB_HUMAN	filamin B, beta	1509	Interaction with FBLP1.				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		TCCCTTCAAGGTCAAGGTCCT	0.488													15	119					0	0	1	0	0	A	58120353	G	A	58120353	3	1	377	1	0	0	0	0	1	0	0	0	5967	1261	44	2	4728	2	FLNB	3	58120353	Missense_Mutation	SNP	G	TCGA-QH-A65S-01A-11D-A29Q-08	53764945	58120353	139902077	9	32584											
FGF5	2250	broad.mit.edu	37	4	81207567	81207567	+	Missense_Mutation	SNP	A	A	T			TCGA-QH-A65S-01A-11D-A29Q-08	TCGA-QH-A65S-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05be7524-29b3-47c4-95bd-eecb53e97770	f3762aaf-0169-420b-93dd-2ebd5afe4412	g.chr4:81207567A>T	ENST00000312465.7	+	3	774	c.548A>T	c.(547-549)aAa>aTa	p.K183I	FGF5_ENST00000456523.3_3'UTR|FGF5_ENST00000503413.1_3'UTR	NM_004464.3	NP_004455.2	P12034	FGF5_HUMAN	fibroblast growth factor 5	183					cell proliferation|cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell division|positive regulation of cell proliferation	extracellular space	fibroblast growth factor receptor binding|growth factor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22						AGAACTGAAAAAACAGGGCGG	0.468													28	65					0	0	1	0	0	T	81207567	A	T	81207567	3	4	377	1	0	0	0	0	1	0	0	0	5888	14	1	5	558	5	FGF5	4	81207567	Missense_Mutation	SNP	A	TCGA-QH-A65S-01A-11D-A29Q-08		81207567	109946709	10	32585											
VCAN	1462	broad.mit.edu	37	5	82833311	82833311	+	Missense_Mutation	SNP	G	G	C			TCGA-QH-A65S-01A-11D-A29Q-08	TCGA-QH-A65S-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05be7524-29b3-47c4-95bd-eecb53e97770	f3762aaf-0169-420b-93dd-2ebd5afe4412	g.chr5:82833311G>C	ENST00000265077.3	+	8	5054	c.4489G>C	c.(4489-4491)Gag>Cag	p.E1497Q	VCAN_ENST00000513016.1_3'UTR|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000343200.5_Missense_Mutation_p.E510Q|VCAN_ENST00000342785.4_Intron|VCAN_ENST00000512590.2_Intron|VCAN_ENST00000502527.2_Intron	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	1497	GAG-beta.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		TTCAGGTGGTGAGCCTGATGT	0.438													12	26					0	0	1	0	0	C	82833311	G	C	82833311	3	2	377	1	0	0	0	0	1	0	0	0	17198	1291	45	5	4515	5	VCAN	5	82833311	Missense_Mutation	SNP	G	TCGA-QH-A65S-01A-11D-A29Q-08		82833311	98081949	11	32586											
C6orf15	29113	broad.mit.edu	37	6	31079466	31079466	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A65S-01A-11D-A29Q-08	TCGA-QH-A65S-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05be7524-29b3-47c4-95bd-eecb53e97770	f3762aaf-0169-420b-93dd-2ebd5afe4412	g.chr6:31079466C>T	ENST00000259870.3	-	2	673	c.670G>A	c.(670-672)Ggg>Agg	p.G224R		NM_014070.2	NP_054789.2	Q6UXA7	CF015_HUMAN	chromosome 6 open reading frame 15	224	Gly-rich.									endometrium(3)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|stomach(1)	17						CAACCAGTCCCAGGGCCTCCA	0.587													14	39					0	0	1	0	0	T	31079466	C	T	31079466	3	4	377	1	0	0	0	0	1	0	0	0	2350	594	21	2	311	2	C6orf15	6	31079466	Missense_Mutation	SNP	C	TCGA-QH-A65S-01A-11D-A29Q-08		31079466	140035601	12	32587											
OPN4	94233	broad.mit.edu	37	10	88418275	88418275	+	Silent	SNP	T	T	C			TCGA-QH-A65S-01A-11D-A29Q-08	TCGA-QH-A65S-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05be7524-29b3-47c4-95bd-eecb53e97770	f3762aaf-0169-420b-93dd-2ebd5afe4412	g.chr10:88418275T>C	ENST00000372071.2	+	5	719	c.492T>C	c.(490-492)ttT>ttC	p.F164F	OPN4_ENST00000241891.5_Silent_p.F153F	NM_001030015.2	NP_001025186.1	Q9UHM6	OPN4_HUMAN	opsin 4	153					phototransduction|protein-chromophore linkage|regulation of circadian rhythm|rhythmic process|visual perception	integral to membrane|plasma membrane	11-cis retinal binding|G-protein coupled photoreceptor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(5)|ovary(3)	18						GAGCTCTCTTTGGCATTTCCT	0.617													16	42					0	0	1	0	0	C	88418275	T	C	88418275	2	2	377	1	0	0	0	0	0	0	0	1	10930	1809	63	3		3	OPN4	10	88418275	Silent	SNP	T	TCGA-QH-A65S-01A-11D-A29Q-08		88418275	47116472	13	32588											
OR52A5	390054	broad.mit.edu	37	11	5153482	5153482	+	Missense_Mutation	SNP	G	G	T			TCGA-QH-A65S-01A-11D-A29Q-08	TCGA-QH-A65S-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05be7524-29b3-47c4-95bd-eecb53e97770	f3762aaf-0169-420b-93dd-2ebd5afe4412	g.chr11:5153482G>T	ENST00000307388.1	-	1	390	c.391C>A	c.(391-393)Ccc>Acc	p.P131T		NM_001005160.2	NP_001005160.1	Q9H2C5	O52A5_HUMAN	olfactory receptor, family 52, subfamily A, member 5	131					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(18)|skin(3)	35		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)		TGTCTCAAGGGGATACAGATG	0.473													12	14					1.08611e-07	1.12114e-07	1	1	0	T	5153482	G	T	5153482	3	4	377	1	0	0	0	0	1	0	0	0	11158	1232	43	5	562	5	OR52A5	11	5153482	Missense_Mutation	SNP	G	TCGA-QH-A65S-01A-11D-A29Q-08		5153482	129853034	14	32589											
ANO1	55107	broad.mit.edu	37	11	69934117	69934117	+	Missense_Mutation	SNP	A	A	G			TCGA-QH-A65S-01A-11D-A29Q-08	TCGA-QH-A65S-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05be7524-29b3-47c4-95bd-eecb53e97770	f3762aaf-0169-420b-93dd-2ebd5afe4412	g.chr11:69934117A>G	ENST00000355303.5	+	2	673	c.368A>G	c.(367-369)gAc>gGc	p.D123G	ANO1_ENST00000538023.1_Missense_Mutation_p.D123G|ANO1_ENST00000530676.1_Missense_Mutation_p.D7G|ANO1_ENST00000398543.2_Missense_Mutation_p.D7G|ANO1_ENST00000316296.5_Missense_Mutation_p.D95G	NM_018043.5	NP_060513.5	Q5XXA6	ANO1_HUMAN	anoctamin 1, calcium activated chloride channel	123					multicellular organismal development	chloride channel complex|cytoplasm|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29						CACGAGGATGACAAGCGCTTC	0.672													4	16					0	0	1	0	0	G	69934117	A	G	69934117	3	3	377	1	0	0	0	0	1	0	0	0	689	275	10	3	374	3	ANO1	11	69934117	Missense_Mutation	SNP	A	TCGA-QH-A65S-01A-11D-A29Q-08	64780635	69934117	65072399	15	32590											
TPTE2	93492	broad.mit.edu	37	13	20025343	20025343	+	Missense_Mutation	SNP	T	T	C			TCGA-QH-A65S-01A-11D-A29Q-08	TCGA-QH-A65S-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05be7524-29b3-47c4-95bd-eecb53e97770	f3762aaf-0169-420b-93dd-2ebd5afe4412	g.chr13:20025343T>C	ENST00000400230.2	-	11	808	c.764A>G	c.(763-765)aAg>aGg	p.K255R	TPTE2_ENST00000382978.1_Missense_Mutation_p.K215R|TPTE2_ENST00000457266.2_Missense_Mutation_p.K144R|TPTE2_ENST00000390680.2_Missense_Mutation_p.K178R|TPTE2_ENST00000400103.2_Missense_Mutation_p.K144R|TPTE2_ENST00000255310.6_Missense_Mutation_p.K178R|TPTE2_ENST00000382975.4_Missense_Mutation_p.K215R|TPTE2_ENST00000382977.4_Missense_Mutation_p.K255R			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	255	Phosphatase tensin-type.					endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		TCGATGTTTCTTATCTAGAAA	0.363													8	25					0	0	1	0	0	C	20025343	T	C	20025343	3	2	377	1	0	0	0	0	1	0	0	0	16492	1609	56	3	844	3	TPTE2	13	20025343	Missense_Mutation	SNP	T	TCGA-QH-A65S-01A-11D-A29Q-08		20025343	95144535	16	32591											
HSD3B7	80270	broad.mit.edu	37	16	30998231	30998231	+	Missense_Mutation	SNP	T	T	G			TCGA-QH-A65S-01A-11D-A29Q-08	TCGA-QH-A65S-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05be7524-29b3-47c4-95bd-eecb53e97770	f3762aaf-0169-420b-93dd-2ebd5afe4412	g.chr16:30998231T>G	ENST00000297679.5	+	6	695	c.602T>G	c.(601-603)aTc>aGc	p.I201S	HSD3B7_ENST00000262520.6_Intron|HSD3B7_ENST00000353250.5_Intron	NM_025193.3	NP_079469.2	Q9H2F3	3BHS7_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7	201					bile acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|cholest-5-ene-3-beta,7-alpha-diol 3-beta-dehydrogenase activity			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						GGCCACCAGATCATGAGGGAC	0.662													13	45					0	0	1	0	0	G	30998231	T	G	30998231	3	3	377	1	0	0	0	0	1	0	0	0	7433	1435	50	4	620	4	HSD3B7	16	30998231	Missense_Mutation	SNP	T	TCGA-QH-A65S-01A-11D-A29Q-08		30998231	59356522	17	32592											
CHMP1A	5119	broad.mit.edu	37	16	89720317	89720317	+	Silent	SNP	A	A	G			TCGA-QH-A65S-01A-11D-A29Q-08	TCGA-QH-A65S-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05be7524-29b3-47c4-95bd-eecb53e97770	f3762aaf-0169-420b-93dd-2ebd5afe4412	g.chr16:89720317A>G	ENST00000397901.3	-	2	278	c.22T>C	c.(22-24)Ttg>Ctg	p.L8L	CHMP1A_ENST00000253475.5_Intron|CHMP1A_ENST00000547614.1_Intron|CHMP1A_ENST00000535997.2_Intron|CHMP1A_ENST00000550102.1_Silent_p.L8L	NM_002768.3	NP_002759.2	Q9HD42	CHM1A_HUMAN	charged multivesicular body protein 1A	8					cell division|gene silencing|mitotic chromosome condensation|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription by glucose|protein transport|transcription, DNA-dependent|vesicle-mediated transport	condensed nuclear chromosome|early endosome|endomembrane system|endosome membrane|microtubule organizing center|nuclear matrix	metallopeptidase activity|protein domain specific binding|zinc ion binding			endometrium(1)|large_intestine(1)|ovary(1)	3		all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.048)		CATACCTTCAACTGGAACAGG	0.502													32	61					0	0	1	0	0	G	89720317	A	G	89720317	2	3	377	1	0	0	0	0	0	0	0	1	3374	40	2	3		3	CHMP1A	16	89720317	Silent	SNP	A	TCGA-QH-A65S-01A-11D-A29Q-08	58722086	89720317	634436	18	32593											
TP53	7157	broad.mit.edu	37	17	7573991	7573992	+	Frame_Shift_Ins	INS	-	-	A			TCGA-QH-A65S-01A-11D-A29Q-08	TCGA-QH-A65S-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05be7524-29b3-47c4-95bd-eecb53e97770	f3762aaf-0169-420b-93dd-2ebd5afe4412	g.chr17:7573991_7573992insA	ENST00000269305.4	-	10	1224_1225	c.1035_1036insT	c.(1033-1038)aatgagfs	p.E346fs	TP53_ENST00000359597.4_Intron|TP53_ENST00000420246.2_3'UTR|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_3'UTR|TP53_ENST00000445888.2_Frame_Shift_Ins_p.E346fs	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	346	Interaction with CARM1.|Interaction with HIPK1 (By similarity).|Interaction with HIPK2.|Oligomerization.		E -> A (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.0?(8)|p.L344fs*23(2)|p.E346*(2)|p.L344fs*22(1)|p.?(1)|p.R342_N345delRELN(1)|p.I332fs*5(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)		TCCAAGGCCTCATTCAGCTCTC	0.579		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)			16	9	---	---	---	---						A	7573992	-	A	7573991	7	5	377	1	0	1	1	0	0	0	0	0	16442	835	29	0	153	0	TP53	17	7573991	Frame_Shift_Ins	INS	-	TCGA-QH-A65S-01A-11D-A29Q-08		7573991	73621219	19	32594											
BSG	682	broad.mit.edu	37	19	581456	581456	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A65S-01A-11D-A29Q-08	TCGA-QH-A65S-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05be7524-29b3-47c4-95bd-eecb53e97770	f3762aaf-0169-420b-93dd-2ebd5afe4412	g.chr19:581456G>A	ENST00000333511.3	+	6	1004	c.934G>A	c.(934-936)Gcc>Acc	p.A312T	BSG_ENST00000353555.4_Missense_Mutation_p.A196T|BSG_ENST00000545507.2_Missense_Mutation_p.A103T|BSG_ENST00000346916.4_Missense_Mutation_p.A132T	NM_001728.3	NP_001719.2	P35613	BASI_HUMAN	basigin	312	Ig-like V-type.				blood coagulation|cell surface receptor linked signaling pathway|leukocyte migration|pyruvate metabolic process	Golgi membrane|integral to membrane|melanosome	lactate transmembrane transporter activity|mannose binding|protein binding			central_nervous_system(1)|endometrium(3)|lung(1)	5		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)		CTCCGACCAGGCCATCATCAC	0.647													8	12					0	0	1	0	0	A	581456	G	A	581456	3	1	377	1	0	0	0	0	1	0	0	0	1531	1203	42	2	992	2	BSG	19	581456	Missense_Mutation	SNP	G	TCGA-QH-A65S-01A-11D-A29Q-08		581456	58547527	20	32595											
BCAM	4059	broad.mit.edu	37	19	45323986	45323986	+	Missense_Mutation	SNP	C	C	A			TCGA-QH-A65S-01A-11D-A29Q-08	TCGA-QH-A65S-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05be7524-29b3-47c4-95bd-eecb53e97770	f3762aaf-0169-420b-93dd-2ebd5afe4412	g.chr19:45323986C>A	ENST00000270233.6	+	14	1810	c.1788C>A	c.(1786-1788)agC>agA	p.S596R		NM_001013257.2|NM_005581.4	NP_001013275.1|NP_005572.2	P50895	BCAM_HUMAN	basal cell adhesion molecule (Lutheran blood group)	596					cell-matrix adhesion	integral to plasma membrane	laminin binding|laminin receptor activity			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22	Lung NSC(12;0.000789)|all_lung(12;0.00218)	Ovarian(192;0.0728)|all_neural(266;0.112)				CAGGGCTGAGCCACTCGGGGT	0.716													2	1					1	1	1	1	0	A	45323986	C	A	45323986	3	1	377	1	0	0	0	0	1	0	0	0	1342	738	26	5	1846	5	BCAM	19	45323986	Missense_Mutation	SNP	C	TCGA-QH-A65S-01A-11D-A29Q-08	44742530	45323986	13804997	21	32596											
PPP1R16B	26051	broad.mit.edu	37	20	37531389	37531389	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A65S-01A-11D-A29Q-08	TCGA-QH-A65S-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05be7524-29b3-47c4-95bd-eecb53e97770	f3762aaf-0169-420b-93dd-2ebd5afe4412	g.chr20:37531389C>T	ENST00000299824.1	+	6	839	c.650C>T	c.(649-651)gCa>gTa	p.A217V	PPP1R16B_ENST00000373331.2_Missense_Mutation_p.A217V	NM_015568.2	NP_056383.1	Q96T49	PP16B_HUMAN	protein phosphatase 1, regulatory subunit 16B	217					regulation of filopodium assembly|signal transduction	nucleus|plasma membrane	protein phosphatase binding			biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	49		Myeloproliferative disorder(115;0.00878)				TGCATGATCGCAGCGGGCCAG	0.577													4	110					0	0	1	0	0	T	37531389	C	T	37531389	3	4	377	1	0	0	0	0	1	0	0	0	12415	710	25	2	668	2	PPP1R16B	20	37531389	Missense_Mutation	SNP	C	TCGA-QH-A65S-01A-11D-A29Q-08		37531389	25494131	22	32597											
ATP9A	10079	broad.mit.edu	37	20	50314007	50314007	+	Missense_Mutation	SNP	T	T	G			TCGA-QH-A65S-01A-11D-A29Q-08	TCGA-QH-A65S-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05be7524-29b3-47c4-95bd-eecb53e97770	f3762aaf-0169-420b-93dd-2ebd5afe4412	g.chr20:50314007T>G	ENST00000338821.5	-	5	715	c.451A>C	c.(451-453)Aag>Cag	p.K151Q	ATP9A_ENST00000311637.5_Intron|ATP9A_ENST00000402822.1_Intron	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	151					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						TTAGAACTCTTCACCTTCACT	0.443													40	62					0	0	1	0	0	G	50314007	T	G	50314007	3	3	377	1	0	0	0	0	1	0	0	0	1196	1792	62	5	2788	5	ATP9A	20	50314007	Missense_Mutation	SNP	T	TCGA-QH-A65S-01A-11D-A29Q-08	12782618	50314007	12711513	23	32598											
GGA1	26088	broad.mit.edu	37	22	38013019	38013019	+	Silent	SNP	G	G	A			TCGA-QH-A65S-01A-11D-A29Q-08	TCGA-QH-A65S-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05be7524-29b3-47c4-95bd-eecb53e97770	f3762aaf-0169-420b-93dd-2ebd5afe4412	g.chr22:38013019G>A	ENST00000381756.5	+	3	355	c.219G>A	c.(217-219)gaG>gaA	p.E73E	GGA1_ENST00000406772.1_Intron|GGA1_ENST00000414350.3_Silent_p.E73E|GGA1_ENST00000343632.4_Intron|GGA1_ENST00000405147.3_Intron|GGA1_ENST00000325180.8_Intron|GGA1_ENST00000337437.4_Intron			Q9UJY5	GGA1_HUMAN	golgi-associated, gamma adaptin ear containing, ARF binding protein 1	69	VHS.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|endosome membrane|Golgi apparatus part	protein binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	10	Melanoma(58;0.0574)					GAAGGGGAGAGGCCACCATCC	0.627													4	10					0	0	1	0	0	A	38013019	G	A	38013019	2	1	377	1	0	0	0	0	0	0	0	1	6394	991	35	2		2	GGA1	22	38013019	Silent	SNP	G	TCGA-QH-A65S-01A-11D-A29Q-08		38013019	13291547	24	32599											
FRMPD4	9758	broad.mit.edu	37	X	12736538	12736538	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A65S-01A-11D-A29Q-08	TCGA-QH-A65S-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05be7524-29b3-47c4-95bd-eecb53e97770	f3762aaf-0169-420b-93dd-2ebd5afe4412	g.chrX:12736538G>A	ENST00000380682.1	+	16	4099	c.3593G>A	c.(3592-3594)cGg>cAg	p.R1198Q		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	1198					positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						TTGGCCAAGCGGATGTCATCA	0.582													6	129					0	0	1	0	0	A	12736538	G	A	12736538	3	1	377	1	0	0	0	0	1	0	0	0	6094	1116	39	1	3655	1	FRMPD4	23	12736538	Missense_Mutation	SNP	G	TCGA-QH-A65S-01A-11D-A29Q-08		12736538	142534022	25	32600											
ATRX	546	broad.mit.edu	37	X	76918915	76918915	+	Frame_Shift_Del	DEL	T	T	-			TCGA-QH-A65S-01A-11D-A29Q-08	TCGA-QH-A65S-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05be7524-29b3-47c4-95bd-eecb53e97770	f3762aaf-0169-420b-93dd-2ebd5afe4412	g.chrX:76918915delT	ENST00000373344.5	-	12	4290	c.4076delA	c.(4075-4077)aagfs	p.K1359fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.K1321fs	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1359					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)	CTCTTTAGGCTTTGTCTTTTT	0.383			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						17	29	---	---	---	---						-	76918915	T	-	76918915	7	5	377	1	0	1	0	1	0	0	0	0	1206	1609	56	0	3498	0	ATRX	23	76918915	Frame_Shift_Del	DEL	T	TCGA-QH-A65S-01A-11D-A29Q-08	64182377	76918915	78351645	26	32601											
PCDH19	57526	broad.mit.edu	37	X	99662601	99662601	+	Missense_Mutation	SNP	A	A	G			TCGA-QH-A65S-01A-11D-A29Q-08	TCGA-QH-A65S-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05be7524-29b3-47c4-95bd-eecb53e97770	f3762aaf-0169-420b-93dd-2ebd5afe4412	g.chrX:99662601A>G	ENST00000373034.4	-	1	2670	c.995T>C	c.(994-996)gTc>gCc	p.V332A	PCDH19_ENST00000255531.7_Missense_Mutation_p.V332A|PCDH19_ENST00000420881.2_Missense_Mutation_p.V332A	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	332	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						GCTGACGGTGACCTTGCAGTG	0.602													20	48					0	0	1	0	0	G	99662601	A	G	99662601	3	3	377	1	0	0	0	0	1	0	0	0	11561	275	10	3	2475	3	PCDH19	23	99662601	Missense_Mutation	SNP	A	TCGA-QH-A65S-01A-11D-A29Q-08	22743686	99662601	55607959	27	32602											
KCNAB2	8514	broad.mit.edu	37	1	6155592	6155592	+	Missense_Mutation	SNP	G	G	T			TCGA-QH-A65V-01A-11D-A29Q-08	TCGA-QH-A65V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03328f23-41c2-42b8-8c9c-1824338aa98b	f5978804-96d3-4d66-92a0-b3075996bc9e	g.chr1:6155592G>T	ENST00000164247.1	+	13	1276	c.712G>T	c.(712-714)Gtg>Ttg	p.V238L	KCNAB2_ENST00000378083.3_Missense_Mutation_p.V286L|KCNAB2_ENST00000458166.2_Missense_Mutation_p.V171L|KCNAB2_ENST00000378092.1_Missense_Mutation_p.V224L|KCNAB2_ENST00000378111.1_Intron|KCNAB2_ENST00000352527.1_Missense_Mutation_p.V224L|KCNAB2_ENST00000378087.3_Intron|KCNAB2_ENST00000602612.1_Missense_Mutation_p.V238L|KCNAB2_ENST00000341524.1_Missense_Mutation_p.V238L|KCNAB2_ENST00000378097.1_Missense_Mutation_p.V238L	NM_001199860.1	NP_001186789.1	Q13303	KCAB2_HUMAN	potassium voltage-gated channel, shaker-related subfamily, beta member 2	238						cytoplasm|integral to membrane|juxtaparanode region of axon	oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity	p.V238L(1)		large_intestine(1)|lung(4)|skin(3)	8	Ovarian(185;0.0634)	all_cancers(23;5.85e-39)|all_epithelial(116;4.88e-22)|all_lung(118;4.21e-08)|Lung NSC(185;9.77e-07)|all_hematologic(16;2.78e-06)|all_neural(13;3.18e-06)|Acute lymphoblastic leukemia(12;0.000272)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00106)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0393)|Medulloblastoma(700;0.211)		Epithelial(90;6.9e-37)|GBM - Glioblastoma multiforme(13;8.8e-31)|OV - Ovarian serous cystadenocarcinoma(86;1.45e-19)|Colorectal(212;2.46e-07)|COAD - Colon adenocarcinoma(227;2.07e-05)|Kidney(185;7.88e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00131)|BRCA - Breast invasive adenocarcinoma(365;0.00133)|STAD - Stomach adenocarcinoma(132;0.00391)|READ - Rectum adenocarcinoma(331;0.0649)		CTCTTCAGGAGTGGGCGCCAT	0.632													45	41					1.76056e-25	1.9396e-25	1	1	0	T	6155592	G	T	6155592	3	4	378	1	0	0	0	0	1	0	0	0	8054	1029	36	4	758	4	KCNAB2	1	6155592	Missense_Mutation	SNP	G	TCGA-QH-A65V-01A-11D-A29Q-08		6155592	243095029	1	32603											
NOTCH2	4853	broad.mit.edu	37	1	120491184	120491184	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A65V-01A-11D-A29Q-08	TCGA-QH-A65V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03328f23-41c2-42b8-8c9c-1824338aa98b	f5978804-96d3-4d66-92a0-b3075996bc9e	g.chr1:120491184G>A	ENST00000256646.2	-	17	2824	c.2605C>T	c.(2605-2607)Cgg>Tgg	p.R869W		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	869	EGF-like 22.				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)		ATGGTACACCGCTGACCTAGG	0.512			"N, F, Mis"		"marginal zone lymphoma, DLBCL"				Alagille Syndrome		OREG0013733	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	29	32					0	0	1	0	0	A	120491184	G	A	120491184	3	1	378	1	0	0	0	0	1	0	0	0	10595	1086	38	1	4882	1	NOTCH2	1	120491184	Missense_Mutation	SNP	G	TCGA-QH-A65V-01A-11D-A29Q-08	114335592	120491184	128759437	2	32604											
NCKAP1	10787	broad.mit.edu	37	2	183866755	183866755	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A65V-01A-11D-A29Q-08	TCGA-QH-A65V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03328f23-41c2-42b8-8c9c-1824338aa98b	f5978804-96d3-4d66-92a0-b3075996bc9e	g.chr2:183866755G>A	ENST00000361354.4	-	6	901	c.529C>T	c.(529-531)Cgc>Tgc	p.R177C	NCKAP1_ENST00000360982.2_Missense_Mutation_p.R183C	NM_013436.3	NP_038464.1	Q9Y2A7	NCKP1_HUMAN	NCK-associated protein 1						apoptosis|central nervous system development	integral to membrane|lamellipodium membrane	protein binding			breast(3)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(11)|lung(16)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			TGGCCAAGGCGTGGGTATTCT	0.363													8	77					0	0	1	0	0	A	183866755	G	A	183866755	3	1	378	1	0	0	0	0	1	0	0	0	10268	1145	40	1	2961	1	NCKAP1	2	183866755	Missense_Mutation	SNP	G	TCGA-QH-A65V-01A-11D-A29Q-08		183866755	59332618	3	32605											
ZC3H15	55854	broad.mit.edu	37	2	187371527	187371527	+	Missense_Mutation	SNP	C	C	G			TCGA-QH-A65V-01A-11D-A29Q-08	TCGA-QH-A65V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03328f23-41c2-42b8-8c9c-1824338aa98b	f5978804-96d3-4d66-92a0-b3075996bc9e	g.chr2:187371527C>G	ENST00000337859.6	+	9	1281	c.1054C>G	c.(1054-1056)Ctt>Gtt	p.L352V		NM_018471.2	NP_060941.2	Q8WU90	ZC3HF_HUMAN	zinc finger CCCH-type containing 15	352						cytoplasm|nucleolus|plasma membrane	nucleic acid binding|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|skin(1)	15			OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Epithelial(96;0.0922)|all cancers(119;0.233)			TGTAGCCAGTCTTGAAAGATT	0.348													23	61					0	0	1	0	0	G	187371527	C	G	187371527	3	3	378	1	0	0	0	0	1	0	0	0	17626	913	32	4	1088	4	ZC3H15	2	187371527	Missense_Mutation	SNP	C	TCGA-QH-A65V-01A-11D-A29Q-08	3504772	187371527	55827846	4	32606											
COL5A2	1290	broad.mit.edu	37	2	189898826	189898826	+	Silent	SNP	G	G	A	rs142895373		TCGA-QH-A65V-01A-11D-A29Q-08	TCGA-QH-A65V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03328f23-41c2-42b8-8c9c-1824338aa98b	f5978804-96d3-4d66-92a0-b3075996bc9e	g.chr2:189898826G>A	ENST00000374866.3	-	54	4744	c.4470C>T	c.(4468-4470)ggC>ggT	p.G1490G		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	1490	Fibrillar collagen NC1.				axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent	p.G1490G(1)		NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			CAATTTCAACGCCGAATTCCT	0.473													24	54					0	0	1	0	0	A	189898826	G	A	189898826	2	1	378	1	0	0	0	0	0	0	0	1	3720	1074	38	1		1	COL5A2	2	189898826	Silent	SNP	G	TCGA-QH-A65V-01A-11D-A29Q-08	2527299	189898826	53300547	5	32607											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-QH-A65V-01A-11D-A29Q-08	TCGA-QH-A65V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03328f23-41c2-42b8-8c9c-1824338aa98b	f5978804-96d3-4d66-92a0-b3075996bc9e	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								21	41					0	0	1	0	0	T	209113112	C	T	209113112	3	4	378	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-QH-A65V-01A-11D-A29Q-08	19214286	209113112	34086261	6	32608											
SCAND3	114821	broad.mit.edu	37	6	28540332	28540332	+	Missense_Mutation	SNP	A	A	G			TCGA-QH-A65V-01A-11D-A29Q-08	TCGA-QH-A65V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03328f23-41c2-42b8-8c9c-1824338aa98b	f5978804-96d3-4d66-92a0-b3075996bc9e	g.chr6:28540332A>G	ENST00000452236.2	-	4	3951	c.3334T>C	c.(3334-3336)Ttt>Ctt	p.F1112L		NM_052923.1	NP_443155.1	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	1112				F -> FF (in Ref. 3; CAD28490).	DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						agatcattaaaaatactgaag	0.353													20	37					0	0	1	0	0	G	28540332	A	G	28540332	3	3	378	1	0	0	0	0	1	0	0	0	13929	14	1	3	647	3	SCAND3	6	28540332	Missense_Mutation	SNP	A	TCGA-QH-A65V-01A-11D-A29Q-08		28540332	142574735	7	32609											
RUNX2	860	broad.mit.edu	37	6	45390463	45390463	+	Silent	SNP	G	G	A			TCGA-QH-A65V-01A-11D-A29Q-08	TCGA-QH-A65V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03328f23-41c2-42b8-8c9c-1824338aa98b	f5978804-96d3-4d66-92a0-b3075996bc9e	g.chr6:45390463G>A	ENST00000371438.1	+	2	550	c.192G>A	c.(190-192)caG>caA	p.Q64Q	RUNX2_ENST00000371432.3_Silent_p.Q50Q|RUNX2_ENST00000541979.1_Silent_p.Q132Q|RUNX2_ENST00000352853.5_Silent_p.Q132Q|RUNX2_ENST00000465038.2_Silent_p.Q64Q|RUNX2_ENST00000371436.6_Silent_p.Q64Q|RUNX2_ENST00000576263.1_Silent_p.Q64Q|RUNX2_ENST00000359524.5_Silent_p.Q50Q	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	64	Poly-Gln.				negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						agcagcagcagcaacagcagc	0.736													4	71					0	0	1	0	0	A	45390463	G	A	45390463	2	1	378	1	0	0	0	0	0	0	0	1	13800	962	34	2		2	RUNX2	6	45390463	Silent	SNP	G	TCGA-QH-A65V-01A-11D-A29Q-08	16850131	45390463	125724604	8	32610											
SUMF2	25870	broad.mit.edu	37	7	56142409	56142409	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A65V-01A-11D-A29Q-08	TCGA-QH-A65V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03328f23-41c2-42b8-8c9c-1824338aa98b	f5978804-96d3-4d66-92a0-b3075996bc9e	g.chr7:56142409C>T	ENST00000434526.2	+	5	603	c.572C>T	c.(571-573)gCc>gTc	p.A191V	SUMF2_ENST00000413756.1_Missense_Mutation_p.A172V|SUMF2_ENST00000275607.9_Missense_Mutation_p.A84V|SUMF2_ENST00000342190.6_Missense_Mutation_p.A191V|SUMF2_ENST00000437307.2_Intron|SUMF2_ENST00000395435.2_Intron|SUMF2_ENST00000395436.2_Missense_Mutation_p.A176V	NM_001042469.1|NM_015411.2	NP_001035934.2|NP_056226	Q8NBJ7	SUMF2_HUMAN	sulfatase modifying factor 2	172						endoplasmic reticulum lumen	metal ion binding			breast(2)|endometrium(2)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	14	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			TGGGAGTTTGCCGCCCGAGGG	0.567											OREG0018081	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	172					0	0	1	0	0	T	56142409	C	T	56142409	3	4	378	1	0	0	0	0	1	0	0	0	15442	739	26	2	590	2	SUMF2	7	56142409	Missense_Mutation	SNP	C	TCGA-QH-A65V-01A-11D-A29Q-08		56142409	102996254	9	32611											
STAG3L4	64940	broad.mit.edu	37	7	66771046	66771046	+	RNA	SNP	T	T	G			TCGA-QH-A65V-01A-11D-A29Q-08	TCGA-QH-A65V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03328f23-41c2-42b8-8c9c-1824338aa98b	f5978804-96d3-4d66-92a0-b3075996bc9e	g.chr7:66771046T>G	ENST00000416602.2	+	0	338					NR_040586.1		Q8TBR4	STG34_HUMAN												endometrium(2)|lung(5)	7		Lung NSC(55;0.0839)|all_lung(88;0.181)				TGTTAACTTTTTCATCTGATC	0.388													52	81					0	0	1	0	0	G	66771046	T	G	66771046	1	3	378	0	1	0	0	0	0	0	0	0	15303	1838	64	5		5	STAG3L4	7	66771046	RNA	SNP	T	TCGA-QH-A65V-01A-11D-A29Q-08	10628637	66771046	92367617	10	32612											
PCLO	27445	broad.mit.edu	37	7	82578793	82578793	+	Splice_Site	SNP	G	G	A			TCGA-QH-A65V-01A-11D-A29Q-08	TCGA-QH-A65V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03328f23-41c2-42b8-8c9c-1824338aa98b	f5978804-96d3-4d66-92a0-b3075996bc9e	g.chr7:82578793G>A	ENST00000333891.9	-	6	11448	c.11111C>T	c.(11110-11112)aCg>aTg	p.T3704M	PCLO_ENST00000423517.2_Splice_Site_p.T3704M|PCLO_ENST00000437081.1_Splice_Site_p.T424M	NM_033026.5	NP_149015.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein						cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CACTCTTACCGTATAGCCCTC	0.463													66	165					0	0	1	0	0	A	82578793	G	A	82578793	5	1	378	1	0	0	0	0	0	0	1	0	11630	1159	40	1	4414	1	PCLO	7	82578793	Splice_Site	SNP	G	TCGA-QH-A65V-01A-11D-A29Q-08	15807747	82578793	76559870	11	32613											
SND1	27044	broad.mit.edu	37	7	127631024	127631024	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A65V-01A-11D-A29Q-08	TCGA-QH-A65V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03328f23-41c2-42b8-8c9c-1824338aa98b	f5978804-96d3-4d66-92a0-b3075996bc9e	g.chr7:127631024G>A	ENST00000354725.3	+	16	1888	c.1694G>A	c.(1693-1695)cGa>cAa	p.R565Q	SND1_ENST00000467238.1_3'UTR	NM_014390.2	NP_055205.2	Q7KZF4	SND1_HUMAN	staphylococcal nuclease and tudor domain containing 1	565	TNase-like 4.				gene silencing by RNA|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	melanosome|nucleus|RNA-induced silencing complex	nuclease activity|nucleic acid binding|protein binding|transcription cofactor activity			central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	41						AGAGGAGCCCGAAACCTCCCA	0.542													12	24					0	0	1	0	0	A	127631024	G	A	127631024	3	1	378	1	0	0	0	0	1	0	0	0	14898	1058	37	1	1756	1	SND1	7	127631024	Missense_Mutation	SNP	G	TCGA-QH-A65V-01A-11D-A29Q-08	45052231	127631024	31507639	12	32614											
TRPV6	55503	broad.mit.edu	37	7	142571891	142571891	+	Missense_Mutation	SNP	A	A	G			TCGA-QH-A65V-01A-11D-A29Q-08	TCGA-QH-A65V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03328f23-41c2-42b8-8c9c-1824338aa98b	f5978804-96d3-4d66-92a0-b3075996bc9e	g.chr7:142571891A>G	ENST00000359396.3	-	12	1702	c.1457T>C	c.(1456-1458)aTt>aCt	p.I486T		NM_018646.3	NP_061116	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel, subfamily V, member 6	486					regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					GTCGCCAAAAATCATCTAGAA	0.547													5	35					0	0	1	0	0	G	142571891	A	G	142571891	3	3	378	1	0	0	0	0	1	0	0	0	16661	101	4	3	736	3	TRPV6	7	142571891	Missense_Mutation	SNP	A	TCGA-QH-A65V-01A-11D-A29Q-08	14940867	142571891	16566772	13	32615											
TNC	3371	broad.mit.edu	37	9	117848575	117848575	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A65V-01A-11D-A29Q-08	TCGA-QH-A65V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03328f23-41c2-42b8-8c9c-1824338aa98b	f5978804-96d3-4d66-92a0-b3075996bc9e	g.chr9:117848575G>A	ENST00000350763.4	-	3	1846	c.1435C>T	c.(1435-1437)Cgc>Tgc	p.R479C	TNC_ENST00000341037.4_Missense_Mutation_p.R479C|TNC_ENST00000423613.2_Missense_Mutation_p.R479C|TNC_ENST00000346706.3_Missense_Mutation_p.R479C|TNC_ENST00000340094.3_Missense_Mutation_p.R479C|TNC_ENST00000542877.1_Missense_Mutation_p.R479C|TNC_ENST00000535648.1_Missense_Mutation_p.R479C|TNC_ENST00000537320.1_Missense_Mutation_p.R479C|TNC_ENST00000345230.3_Missense_Mutation_p.R479C	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	479	EGF-like 11.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						TTCACACAGCGGCCGTGCTGG	0.582													89	191					0	0	1	0	0	A	117848575	G	A	117848575	3	1	378	1	0	0	0	0	1	0	0	0	16330	1116	39	1	5274	1	TNC	9	117848575	Missense_Mutation	SNP	G	TCGA-QH-A65V-01A-11D-A29Q-08		117848575	23364856	14	32616											
PWWP2B	170394	broad.mit.edu	37	10	134218474	134218474	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A65V-01A-11D-A29Q-08	TCGA-QH-A65V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03328f23-41c2-42b8-8c9c-1824338aa98b	f5978804-96d3-4d66-92a0-b3075996bc9e	g.chr10:134218474G>A	ENST00000305233.5	+	2	529	c.470G>A	c.(469-471)cGc>cAc	p.R157H	PWWP2B_ENST00000368609.4_Missense_Mutation_p.R157H	NM_138499.3	NP_612508.3	Q6NUJ5	PWP2B_HUMAN	PWWP domain containing 2B	157										central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|urinary_tract(1)	9		all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224)		OV - Ovarian serous cystadenocarcinoma(35;7.49e-05)|Epithelial(32;0.00016)|all cancers(32;0.000186)		CGTCTGTCCCGCAACCGCGAC	0.726													14	23					0	0	1	0	0	A	134218474	G	A	134218474	3	1	378	1	0	0	0	0	1	0	0	0	12898	1087	38	1	476	1	PWWP2B	10	134218474	Missense_Mutation	SNP	G	TCGA-QH-A65V-01A-11D-A29Q-08		134218474	1316273	15	32617											
OR5AS1	219447	broad.mit.edu	37	11	55798589	55798589	+	Missense_Mutation	SNP	G	G	T			TCGA-QH-A65V-01A-11D-A29Q-08	TCGA-QH-A65V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03328f23-41c2-42b8-8c9c-1824338aa98b	f5978804-96d3-4d66-92a0-b3075996bc9e	g.chr11:55798589G>T	ENST00000313555.1	+	1	695	c.695G>T	c.(694-696)gGt>gTt	p.G232V		NM_001001921.1	NP_001001921.1	Q8N127	O5AS1_HUMAN	olfactory receptor, family 5, subfamily AS, member 1	232					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1)	48	Esophageal squamous(21;0.00693)					AAGTCCTCAGGTGGCAGAAGC	0.453													67	112					4.13886e-29	4.63838e-29	1	1	0	T	55798589	G	T	55798589	3	4	378	1	0	0	0	0	1	0	0	0	11193	1261	44	5	697	5	OR5AS1	11	55798589	Missense_Mutation	SNP	G	TCGA-QH-A65V-01A-11D-A29Q-08		55798589	79207927	16	32618											
HYLS1	219844	broad.mit.edu	37	11	125770123	125770123	+	Missense_Mutation	SNP	T	T	C			TCGA-QH-A65V-01A-11D-A29Q-08	TCGA-QH-A65V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03328f23-41c2-42b8-8c9c-1824338aa98b	f5978804-96d3-4d66-92a0-b3075996bc9e	g.chr11:125770123T>C	ENST00000425380.2	+	3	1641	c.860T>C	c.(859-861)gTc>gCc	p.V287A	PUS3_ENST00000227474.3_Intron|HYLS1_ENST00000526028.1_Missense_Mutation_p.V287A|HYLS1_ENST00000356438.3_Missense_Mutation_p.V287A	NM_001134793.1	NP_001128265.1	Q96M11	HYLS1_HUMAN	hydrolethalus syndrome 1	287						centrosome|nucleus				breast(1)|endometrium(1)|large_intestine(3)|skin(3)|upper_aerodigestive_tract(1)	9	all_hematologic(175;0.177)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.131)|all_lung(97;0.139)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0446)		GCAAATGGTGTCATACCCAGG	0.403													27	44					0	0	1	0	0	C	125770123	T	C	125770123	3	2	378	1	0	0	0	0	1	0	0	0	7513	1667	58	3	862	3	HYLS1	11	125770123	Missense_Mutation	SNP	T	TCGA-QH-A65V-01A-11D-A29Q-08	69971534	125770123	9236393	17	32619											
ZC3H13	23091	broad.mit.edu	37	13	46619598	46619598	+	Silent	SNP	A	A	G			TCGA-QH-A65V-01A-11D-A29Q-08	TCGA-QH-A65V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03328f23-41c2-42b8-8c9c-1824338aa98b	f5978804-96d3-4d66-92a0-b3075996bc9e	g.chr13:46619598A>G	ENST00000242848.4	-	2	393	c.45T>C	c.(43-45)acT>acC	p.T15T	ZC3H13_ENST00000282007.3_Silent_p.T15T			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	15							nucleic acid binding|zinc ion binding			cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		TATCAGATATAGTCTTGGTAT	0.413													52	105					0	0	1	0	0	G	46619598	A	G	46619598	2	3	378	1	0	0	0	0	0	0	0	1	17624	407	15	3		3	ZC3H13	13	46619598	Silent	SNP	A	TCGA-QH-A65V-01A-11D-A29Q-08		46619598	68550280	18	32620											
C15orf43	145645	broad.mit.edu	37	15	45248953	45248953	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A65V-01A-11D-A29Q-08	TCGA-QH-A65V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03328f23-41c2-42b8-8c9c-1824338aa98b	f5978804-96d3-4d66-92a0-b3075996bc9e	g.chr15:45248953G>A	ENST00000340827.3	+	1	54	c.37G>A	c.(37-39)Gtt>Att	p.V13I		NM_152448.2	NP_689661.1	Q8NHR7	CO043_HUMAN	chromosome 15 open reading frame 43	13										NS(1)|breast(2)|large_intestine(1)|lung(2)|skin(2)	8		all_cancers(109;3.68e-08)|all_epithelial(112;1.05e-06)|Lung NSC(122;1.42e-05)|all_lung(180;0.000112)|Melanoma(134;0.0192)		all cancers(107;7.64e-17)|GBM - Glioblastoma multiforme(94;2.03e-06)		TTGCGGCAGCGTTAGCCAGGA	0.582													26	78					0	0	1	0	0	A	45248953	G	A	45248953	3	1	378	1	0	0	0	0	1	0	0	0	1803	1145	40	1	39	1	C15orf43	15	45248953	Missense_Mutation	SNP	G	TCGA-QH-A65V-01A-11D-A29Q-08		45248953	57282439	19	32621											
PRR14	78994	broad.mit.edu	37	16	30664041	30664041	+	Splice_Site	SNP	G	G	A	rs147414936		TCGA-QH-A65V-01A-11D-A29Q-08	TCGA-QH-A65V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03328f23-41c2-42b8-8c9c-1824338aa98b	f5978804-96d3-4d66-92a0-b3075996bc9e	g.chr16:30664041G>A	ENST00000542965.2	+	3	648		c.e3-1		PRR14_ENST00000300835.4_Splice_Site			Q9BWN1	PRR14_HUMAN	proline rich 14											breast(3)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	18			Colorectal(24;0.103)			TTCTCTTCCAGGTCCCCGTGG	0.587													4	107					0	0	1	0	0	A	30664041	G	A	30664041	5	1	378	1	0	0	0	0	0	0	1	0	12638	1014	35	2	202	2	PRR14	16	30664041	Splice_Site	SNP	G	TCGA-QH-A65V-01A-11D-A29Q-08		30664041	59690712	20	32622											
LONP2	83752	broad.mit.edu	37	16	48296697	48296697	+	Missense_Mutation	SNP	A	A	C			TCGA-QH-A65V-01A-11D-A29Q-08	TCGA-QH-A65V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03328f23-41c2-42b8-8c9c-1824338aa98b	f5978804-96d3-4d66-92a0-b3075996bc9e	g.chr16:48296697A>C	ENST00000285737.4	+	6	989	c.896A>C	c.(895-897)aAa>aCa	p.K299T	LONP2_ENST00000535754.1_Missense_Mutation_p.K255T	NM_031490.2	NP_113678.2	Q86WA8	LONP2_HUMAN	lon peptidase 2, peroxisomal	299					misfolded or incompletely synthesized protein catabolic process|protein targeting to peroxisome|signal peptide processing	nucleoid|peroxisomal matrix	ATP binding|ATP-dependent peptidase activity|enzyme binding|sequence-specific DNA binding|serine-type endopeptidase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						AGACTCAAAAAAATGCCTCAG	0.348													8	18					0	0	1	0	0	C	48296697	A	C	48296697	3	2	378	1	0	0	0	0	1	0	0	0	8938	14	1	5	918	5	LONP2	16	48296697	Missense_Mutation	SNP	A	TCGA-QH-A65V-01A-11D-A29Q-08	17632656	48296697	42058056	21	32623											
PSME3	10197	broad.mit.edu	37	17	40990763	40990763	+	Nonsense_Mutation	SNP	C	C	T			TCGA-QH-A65V-01A-11D-A29Q-08	TCGA-QH-A65V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03328f23-41c2-42b8-8c9c-1824338aa98b	f5978804-96d3-4d66-92a0-b3075996bc9e	g.chr17:40990763C>T	ENST00000293362.3	+	7	621	c.460C>T	c.(460-462)Cag>Tag	p.Q154*	PSME3_ENST00000545225.1_Nonsense_Mutation_p.Q80*|PSME3_ENST00000590720.1_Nonsense_Mutation_p.Q141*|PSME3_ENST00000441946.2_Nonsense_Mutation_p.Q152*|PSME3_ENST00000541124.1_3'UTR|PSME3_ENST00000592169.1_Nonsense_Mutation_p.Q85*	NM_005789.3|NM_176863.2	NP_005780.2|NP_789839.1	P61289	PSME3_HUMAN	proteasome (prosome, macropain) activator subunit 3 (PA28 gamma; Ki)	141					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of proteasomal protein catabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome activator complex	endopeptidase activator activity|identical protein binding|MDM2 binding|p53 binding			NS(1)|cervix(1)|large_intestine(3)|lung(1)	6		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)		AATGTGGGTACAGCTCCTGAT	0.463													29	51					0	0	1	0	0	T	40990763	C	T	40990763	4	4	378	1	0	0	0	0	0	1	0	0	12757	479	17	2	486	2	PSME3	17	40990763	Nonsense_Mutation	SNP	C	TCGA-QH-A65V-01A-11D-A29Q-08		40990763	40204447	22	32624											
AXIN2	8313	broad.mit.edu	37	17	63533498	63533498	+	Silent	SNP	G	G	A			TCGA-QH-A65V-01A-11D-A29Q-08	TCGA-QH-A65V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03328f23-41c2-42b8-8c9c-1824338aa98b	f5978804-96d3-4d66-92a0-b3075996bc9e	g.chr17:63533498G>A	ENST00000307078.5	-	6	1969	c.1656C>T	c.(1654-1656)taC>taT	p.Y552Y	AXIN2_ENST00000375702.5_Silent_p.Y552Y	NM_004655.3	NP_004646.3	Q9Y2T1	AXIN2_HUMAN	axin 2	552					cellular protein localization|cellular response to organic cyclic compound|dorsal/ventral axis specification|intramembranous ossification|maintenance of DNA repeat elements|mRNA stabilization|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of cell proliferation|negative regulation of osteoblast differentiation|odontogenesis|positive regulation of cell death|positive regulation of epithelial to mesenchymal transition|positive regulation of protein phosphorylation|regulation of centromeric sister chromatid cohesion|regulation of mismatch repair|Wnt receptor signaling pathway involved in somitogenesis	Axin-APC-beta-catenin-GSK3B complex|cell cortex|centrosome|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|nucleus|plasma membrane|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	34						TGCATTTCGAGTAGCAGTAAT	0.627									Oligodontia, Ectodermal Dysplasia and Colorectal Polyp syndrome				4	138					0	0	1	0	0	A	63533498	G	A	63533498	2	1	378	1	0	0	0	0	0	0	0	1	1235	1024	36	2		2	AXIN2	17	63533498	Silent	SNP	G	TCGA-QH-A65V-01A-11D-A29Q-08	22542735	63533498	17661712	23	32625											
UNC13D	201294	broad.mit.edu	37	17	73826535	73826535	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A65V-01A-11D-A29Q-08	TCGA-QH-A65V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03328f23-41c2-42b8-8c9c-1824338aa98b	f5978804-96d3-4d66-92a0-b3075996bc9e	g.chr17:73826535G>A	ENST00000207549.4	-	29	3117	c.2738C>T	c.(2737-2739)gCt>gTt	p.A913V	UNC13D_ENST00000412096.2_Missense_Mutation_p.A913V	NM_199242.2	NP_954712.1	Q70J99	UN13D_HUMAN	unc-13 homolog D (C. elegans)	913	C2 2.				positive regulation of exocytosis|regulation of mast cell degranulation	exocytic vesicle|late endosome|lysosome|membrane|recycling endosome	protein binding			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29			all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154)			GACTGTCACAGCCCCCAGCTC	0.682									Familial Hemophagocytic Lymphohistiocytosis		OREG0024741	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	10					0	0	1	0	0	A	73826535	G	A	73826535	3	1	378	1	0	0	0	0	1	0	0	0	17047	971	34	2	550	2	UNC13D	17	73826535	Missense_Mutation	SNP	G	TCGA-QH-A65V-01A-11D-A29Q-08	10293037	73826535	7368675	24	32626											
CELF5	60680	broad.mit.edu	37	19	3251064	3251064	+	Splice_Site	SNP	G	G	T			TCGA-QH-A65V-01A-11D-A29Q-08	TCGA-QH-A65V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03328f23-41c2-42b8-8c9c-1824338aa98b	f5978804-96d3-4d66-92a0-b3075996bc9e	g.chr19:3251064G>T	ENST00000541430.2	+	2	377	c.341G>T	c.(340-342)gGa>gTa	p.G114V	CELF5_ENST00000292672.2_Splice_Site_p.G114V	NM_001172673.1	NP_001166144.1	Q8N6W0	CELF5_HUMAN	CUGBP, Elav-like family member 5	114	RRM 1.				mRNA processing	cytoplasm|nucleus	nucleotide binding|RNA binding			kidney(1)|large_intestine(2)|lung(7)|ovary(2)|skin(1)	13						ACCTTGCCCGGAGTGAGTCCT	0.602													4	81					0.00909568	0.0092378	1	1	0	T	3251064	G	T	3251064	5	4	378	1	0	0	0	0	0	0	1	0	3241	1188	41	5	347	5	CELF5	19	3251064	Splice_Site	SNP	G	TCGA-QH-A65V-01A-11D-A29Q-08		3251064	55877919	25	32627											
EBI3	10148	broad.mit.edu	37	19	4236975	4236975	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A65V-01A-11D-A29Q-08	TCGA-QH-A65V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03328f23-41c2-42b8-8c9c-1824338aa98b	f5978804-96d3-4d66-92a0-b3075996bc9e	g.chr19:4236975C>T	ENST00000221847.5	+	5	633	c.580C>T	c.(580-582)Cgg>Tgg	p.R194W		NM_005755.2	NP_005746.2	Q14213	IL27B_HUMAN	Epstein-Barr virus induced 3	194	Fibronectin type-III 2.				humoral immune response|positive regulation of alpha-beta T cell proliferation|positive regulation of interferon-gamma biosynthetic process|T-helper 1 type immune response	extracellular space|plasma membrane	cytokine activity|cytokine receptor activity			large_intestine(1)|lung(2)|ovary(1)|urinary_tract(1)	5		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0336)|STAD - Stomach adenocarcinoma(1328;0.18)		CAGGGCTGTGCGGCCCCGAGC	0.607													4	120					0	0	1	0	0	T	4236975	C	T	4236975	3	4	378	1	0	0	0	0	1	0	0	0	4909	759	27	1	598	1	EBI3	19	4236975	Missense_Mutation	SNP	C	TCGA-QH-A65V-01A-11D-A29Q-08	985911	4236975	54892008	26	32628											
CNTD2	79935	broad.mit.edu	37	19	40730639	40730639	+	Missense_Mutation	SNP	A	A	C			TCGA-QH-A65V-01A-11D-A29Q-08	TCGA-QH-A65V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03328f23-41c2-42b8-8c9c-1824338aa98b	f5978804-96d3-4d66-92a0-b3075996bc9e	g.chr19:40730639A>C	ENST00000430325.2	-	2	395	c.347T>G	c.(346-348)gTc>gGc	p.V116G	CNTD2_ENST00000513948.1_Missense_Mutation_p.V10G|CNTD2_ENST00000433940.1_Intron	NM_024877.3	NP_079153.2	B4DX65	B4DX65_HUMAN	cyclin N-terminal domain containing 2	116					regulation of cyclin-dependent protein kinase activity		protein kinase binding			lung(1)|prostate(1)	2						GTGCACCTGGACCAGCCAGTC	0.697													4	17					0	0	1	0	0	C	40730639	A	C	40730639	3	2	378	1	0	0	0	0	1	0	0	0	3659	275	10	5	592	5	CNTD2	19	40730639	Missense_Mutation	SNP	A	TCGA-QH-A65V-01A-11D-A29Q-08	36493664	40730639	18398344	27	32629											
CIC	23152	broad.mit.edu	37	19	42799059	42799059	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A65V-01A-11D-A29Q-08	TCGA-QH-A65V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03328f23-41c2-42b8-8c9c-1824338aa98b	f5978804-96d3-4d66-92a0-b3075996bc9e	g.chr19:42799059C>T	ENST00000572681.2	+	21	7329	c.7261C>T	c.(7261-7263)Cgc>Tgc	p.R2421C	CIC_ENST00000160740.3_Missense_Mutation_p.R1513C|CIC_ENST00000575354.2_Missense_Mutation_p.R1515C			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	1515					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CCGTGAGGTGCGCCAGAAGAT	0.632			"Mis, F, S"		oligodendroglioma								22	50					0	0	1	0	0	T	42799059	C	T	42799059	3	4	378	1	0	0	0	0	1	0	0	0	3446	768	27	1	4621	1	CIC	19	42799059	Missense_Mutation	SNP	C	TCGA-QH-A65V-01A-11D-A29Q-08	2068420	42799059	16329924	28	32630											
ZNF285	26974	broad.mit.edu	37	19	44892133	44892133	+	Missense_Mutation	SNP	C	C	T	rs140033872	by1000genomes	TCGA-QH-A65V-01A-11D-A29Q-08	TCGA-QH-A65V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03328f23-41c2-42b8-8c9c-1824338aa98b	f5978804-96d3-4d66-92a0-b3075996bc9e	g.chr19:44892133C>T	ENST00000330997.4	-	4	338	c.274G>A	c.(274-276)Gtg>Atg	p.V92M	ZNF285_ENST00000591679.1_Missense_Mutation_p.V99M|ZNF285_ENST00000544719.2_Missense_Mutation_p.V92M|CTC-512J12.6_ENST00000588212.1_Intron	NM_152354.3	NP_689567.3			zinc finger protein 285											breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						TGAAGGTTCACGATATAATCC	0.418													4	69					0	0	1	0	0	T	44892133	C	T	44892133	3	4	378	1	0	0	0	0	1	0	0	0	17880	536	19	1	1502	1	ZNF285	19	44892133	Missense_Mutation	SNP	C	TCGA-QH-A65V-01A-11D-A29Q-08	2093074	44892133	14236850	29	32631											
CD40	958	broad.mit.edu	37	20	44751286	44751286	+	Silent	SNP	A	A	G			TCGA-QH-A65V-01A-11D-A29Q-08	TCGA-QH-A65V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03328f23-41c2-42b8-8c9c-1824338aa98b	f5978804-96d3-4d66-92a0-b3075996bc9e	g.chr20:44751286A>G	ENST00000372285.3	+	4	366	c.294A>G	c.(292-294)gaA>gaG	p.E98E	CD40_ENST00000372276.3_Silent_p.E98E|CD40_ENST00000489304.1_3'UTR	NM_001250.4	NP_001241.1	P25942	TNR5_HUMAN	CD40 molecule, TNF receptor superfamily member 5	98					B cell proliferation|cellular response to mechanical stimulus|inflammatory response|platelet activation|positive regulation of endothelial cell apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein complex assembly	CD40 receptor complex|extracellular region	enzyme binding|receptor activity			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10		Myeloproliferative disorder(115;0.0122)			Simvastatin(DB00641)	GCACCTCAGAAACAGACACCA	0.607									Immune Deficiency with Hyper-IgM				38	81					0	0	1	0	0	G	44751286	A	G	44751286	2	3	378	1	0	0	0	0	0	0	0	1	3037	11	1	3		3	CD40	20	44751286	Silent	SNP	A	TCGA-QH-A65V-01A-11D-A29Q-08		44751286	18274234	30	32632											
XG	7499	broad.mit.edu	37	X	2670333	2670333	+	Frame_Shift_Del	DEL	A	A	-			TCGA-QH-A65V-01A-11D-A29Q-08	TCGA-QH-A65V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03328f23-41c2-42b8-8c9c-1824338aa98b	f5978804-96d3-4d66-92a0-b3075996bc9e	g.chrX:2670333delA	ENST00000426774.1	+	1	241	c.18delA	c.(16-18)ggafs	p.G6fs	XG_ENST00000419513.2_Frame_Shift_Del_p.G6fs|XG_ENST00000381174.5_Frame_Shift_Del_p.G6fs	NM_001141920.1|NM_175569.2	NP_001135392.1|NP_780778.1	P55808	XG_HUMAN	Xg blood group	6						integral to membrane|plasma membrane				endometrium(1)|large_intestine(3)|lung(3)|ovary(1)	8		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				GCTGGTGGGGACTTCCCTGTC	0.532													40	111	---	---	---	---						-	2670333	A	-	2670333	7	5	378	1	0	1	0	1	0	0	0	0	17487	262	10	0	20	0	XG	23	2670333	Frame_Shift_Del	DEL	A	TCGA-QH-A65V-01A-11D-A29Q-08		2670333	152600227	31	32633											
MID1IP1	58526	broad.mit.edu	37	X	38664318	38664318	+	Missense_Mutation	SNP	A	A	T			TCGA-QH-A65V-01A-11D-A29Q-08	TCGA-QH-A65V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03328f23-41c2-42b8-8c9c-1824338aa98b	f5978804-96d3-4d66-92a0-b3075996bc9e	g.chrX:38664318A>T	ENST00000336949.6	+	2	1064	c.119A>T	c.(118-120)gAc>gTc	p.D40V	MID1IP1_ENST00000378474.3_Missense_Mutation_p.D40V|MID1IP1_ENST00000457894.1_Missense_Mutation_p.D40V	NM_021242.4	NP_067065.1	Q9NPA3	M1IP1_HUMAN	MID1 interacting protein 1	40					lipid biosynthetic process|negative regulation of microtubule depolymerization|positive regulation of fatty acid biosynthetic process|positive regulation of ligase activity|protein polymerization	cytosol|microtubule|nucleus				kidney(1)|large_intestine(3)|lung(2)|prostate(1)	7						TTGCTGCGCGACGTGCCCCTG	0.632													31	48					0	0	1	0	0	T	38664318	A	T	38664318	3	4	378	1	0	0	0	0	1	0	0	0	9625	275	10	5	121	5	MID1IP1	23	38664318	Missense_Mutation	SNP	A	TCGA-QH-A65V-01A-11D-A29Q-08	35993985	38664318	116606242	32	32634											
ARID1A	8289	broad.mit.edu	37	1	27057967	27057971	+	Frame_Shift_Del	DEL	CCTTA	CCTTA	-			TCGA-QH-A65X-01A-11D-A32B-08	TCGA-QH-A65X-10D-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32544a75-ede9-469c-a607-f954f919b504	f07e106d-56c9-4bc8-8ab6-10829e09a840	g.chr1:27057967_27057971delCCTTA	ENST00000324856.7	+	3	2046_2050	c.1675_1679delCCTTA	c.(1675-1680)ccttacfs	p.PY559fs	ARID1A_ENST00000457599.2_Frame_Shift_Del_p.PY559fs|ARID1A_ENST00000374152.2_Frame_Shift_Del_p.PY176fs	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	559					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GGCTCAGTCTCCTTACCAGCAGCAG	0.634			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"								95	51	---	---	---	---						-	27057971	CCTTA	-	27057967	7	5	379	1	0	1	0	1	0	0	0	0	910	855	30	0	1685	0	ARID1A	1	27057967	Frame_Shift_Del	DEL	CCTTA	TCGA-QH-A65X-01A-11D-A32B-08		27057967	222192654	1	32635											
RAVER2	55225	broad.mit.edu	37	1	65272951	65272951	+	Missense_Mutation	SNP	C	C	A			TCGA-QH-A65X-01A-11D-A32B-08	TCGA-QH-A65X-10D-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32544a75-ede9-469c-a607-f954f919b504	f07e106d-56c9-4bc8-8ab6-10829e09a840	g.chr1:65272951C>A	ENST00000294428.3	+	9	1552	c.1474C>A	c.(1474-1476)Cca>Aca	p.P492T	RAVER2_ENST00000371072.4_Missense_Mutation_p.P479T|RAVER2_ENST00000430964.2_Intron			Q9HCJ3	RAVR2_HUMAN	ribonucleoprotein, PTB-binding 2	492						cytoplasm|nucleus	nucleotide binding|RNA binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	24						ACCATTCTTTCCAAATCAGCA	0.463													3	18					2.56e-06	2.62244e-06	1	1	0	A	65272951	C	A	65272951	3	1	379	1	0	0	0	0	1	0	0	0	13147	855	30	5	1469	5	RAVER2	1	65272951	Missense_Mutation	SNP	C	TCGA-QH-A65X-01A-11D-A32B-08	38214984	65272951	183977670	2	32636											
AMY2B	280	broad.mit.edu	37	1	104120221	104120221	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A65X-01A-11D-A32B-08	TCGA-QH-A65X-10D-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32544a75-ede9-469c-a607-f954f919b504	f07e106d-56c9-4bc8-8ab6-10829e09a840	g.chr1:104120221G>A	ENST00000361355.4	+	10	1827	c.1211G>A	c.(1210-1212)cGc>cAc	p.R404H	AMY2B_ENST00000491397.1_Intron	NM_020978.3	NP_066188.1	P19961	AMY2B_HUMAN	amylase, alpha 2B (pancreatic)	404					carbohydrate metabolic process|digestion	extracellular region	alpha-amylase activity|metal ion binding			breast(1)|endometrium(7)|kidney(4)|large_intestine(1)|lung(30)|prostate(1)|skin(1)|urinary_tract(1)	46		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112)		CATCGATGGCGCCAAATAAGG	0.343													4	111					0	0	1	0	0	A	104120221	G	A	104120221	3	1	379	1	0	0	0	0	1	0	0	0	591	1087	38	1	1241	1	AMY2B	1	104120221	Missense_Mutation	SNP	G	TCGA-QH-A65X-01A-11D-A32B-08	38847270	104120221	145130400	3	32637											
DUSP27	92235	broad.mit.edu	37	1	167095078	167095078	+	Missense_Mutation	SNP	T	T	C			TCGA-QH-A65X-01A-11D-A32B-08	TCGA-QH-A65X-10D-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32544a75-ede9-469c-a607-f954f919b504	f07e106d-56c9-4bc8-8ab6-10829e09a840	g.chr1:167095078T>C	ENST00000361200.2	+	6	876	c.710T>C	c.(709-711)gTc>gCc	p.V237A	DUSP27_ENST00000271385.5_Missense_Mutation_p.V237A|DUSP27_ENST00000443333.1_Missense_Mutation_p.V237A			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	237	Tyrosine-protein phosphatase.				protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						GTGCTGGTGGTCGCCTACCTG	0.527													4	26					0	0	1	0	0	C	167095078	T	C	167095078	3	2	379	1	0	0	0	0	1	0	0	0	4850	1667	58	3	728	3	DUSP27	1	167095078	Missense_Mutation	SNP	T	TCGA-QH-A65X-01A-11D-A32B-08	62974857	167095078	82155543	4	32638											
DNMT3A	1788	broad.mit.edu	37	2	25497832	25497832	+	Nonsense_Mutation	SNP	C	C	T			TCGA-QH-A65X-01A-11D-A32B-08	TCGA-QH-A65X-10D-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32544a75-ede9-469c-a607-f954f919b504	f07e106d-56c9-4bc8-8ab6-10829e09a840	g.chr2:25497832C>T	ENST00000264709.3	-	6	954	c.617G>A	c.(616-618)tGg>tAg	p.W206*	DNMT3A_ENST00000321117.5_Nonsense_Mutation_p.W206*	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	206	Interaction with DNMT1 and DNMT3B.				regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCGTGCCAGCCACTCGTCCCG	0.657			"Mis, F, N, S"		AML								16	13					0	0	1	0	0	T	25497832	C	T	25497832	4	4	379	1	0	0	0	0	0	1	0	0	4703	595	21	2	2273	2	DNMT3A	2	25497832	Nonsense_Mutation	SNP	C	TCGA-QH-A65X-01A-11D-A32B-08		25497832	217701541	5	32639											
RTN4	57142	broad.mit.edu	37	2	55253414	55253416	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-QH-A65X-01A-11D-A32B-08	TCGA-QH-A65X-10D-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32544a75-ede9-469c-a607-f954f919b504	f07e106d-56c9-4bc8-8ab6-10829e09a840	g.chr2:55253414_55253416delAGG	ENST00000337526.6	-	3	2062_2064	c.1819_1821delCCT	c.(1819-1821)cctdel	p.P607del	RTN4_ENST00000354474.6_In_Frame_Del_p.P375del|RTN4_ENST00000317610.7_Intron|RTN4_ENST00000404909.1_In_Frame_Del_p.P401del|RTN4_ENST00000402434.2_Intron|RTN4_ENST00000357376.3_In_Frame_Del_p.P401del|RTN4_ENST00000394611.2_In_Frame_Del_p.P401del|RTN4_ENST00000357732.4_Intron|RTN4_ENST00000405240.1_In_Frame_Del_p.P401del	NM_020532.4	NP_065393.1	Q9NQC3	RTN4_HUMAN	reticulon 4	607					apoptosis|axonal fasciculation|cerebral cortex radial glia guided migration|endoplasmic reticulum tubular network organization|negative regulation of anti-apoptosis|negative regulation of axon extension|nerve growth factor receptor signaling pathway|regulation of apoptosis|regulation of branching morphogenesis of a nerve|regulation of cell migration	integral to endoplasmic reticulum membrane|nuclear envelope|plasma membrane	protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(1)|skin(1)|stomach(1)	36						AAACTGGTGAAGGAGTAGCTTCT	0.443													33	45	---	---	---	---						-	55253416	AGG	-	55253414	7	5	379	1	0	1	0	1	0	0	0	0	13780	59	3	0	1823	0	RTN4	2	55253414	In_Frame_Del	DEL	AGG	TCGA-QH-A65X-01A-11D-A32B-08	29755582	55253414	187945959	6	32640											
SFXN5	94097	broad.mit.edu	37	2	73188272	73188272	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A65X-01A-11D-A32B-08	TCGA-QH-A65X-10D-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32544a75-ede9-469c-a607-f954f919b504	f07e106d-56c9-4bc8-8ab6-10829e09a840	g.chr2:73188272C>T	ENST00000410065.1	-	11	749	c.731G>A	c.(730-732)cGc>cAc	p.R244H	SFXN5_ENST00000272433.2_Silent_p.P311P|SFXN5_ENST00000474528.1_5'UTR			Q8TD22	SFXN5_HUMAN	sideroflexin 5	0					iron ion homeostasis	integral to membrane	cation transmembrane transporter activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)	9						CTGACATTTGCGGGAAGAGGC	0.637													3	14					0	0	1	0	0	T	73188272	C	T	73188272	3	4	379	1	0	0	0	0	1	0	0	0	14252	755	27	1	97	1	SFXN5	2	73188272	Missense_Mutation	SNP	C	TCGA-QH-A65X-01A-11D-A32B-08	17934858	73188272	170011101	7	32641											
SLC9A2	6549	broad.mit.edu	37	2	103274268	103274268	+	Missense_Mutation	SNP	T	T	C			TCGA-QH-A65X-01A-11D-A32B-08	TCGA-QH-A65X-10D-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32544a75-ede9-469c-a607-f954f919b504	f07e106d-56c9-4bc8-8ab6-10829e09a840	g.chr2:103274268T>C	ENST00000233969.2	+	2	677	c.535T>C	c.(535-537)Tgg>Cgg	p.W179R		NM_003048.3	NP_003039.2	Q9UBY0	SL9A2_HUMAN	solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2	179						integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						AGGGACACTTTGGAATTCCAT	0.517													6	201					0	0	1	0	0	C	103274268	T	C	103274268	3	2	379	1	0	0	0	0	1	0	0	0	14767	1812	63	3	541	3	SLC9A2	2	103274268	Missense_Mutation	SNP	T	TCGA-QH-A65X-01A-11D-A32B-08	30085996	103274268	139925105	8	32642											
CXCR1	3577	broad.mit.edu	37	2	219029665	219029665	+	Silent	SNP	C	C	T			TCGA-QH-A65X-01A-11D-A32B-08	TCGA-QH-A65X-10D-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32544a75-ede9-469c-a607-f954f919b504	f07e106d-56c9-4bc8-8ab6-10829e09a840	g.chr2:219029665C>T	ENST00000295683.2	-	2	390	c.270G>A	c.(268-270)ctG>ctA	p.L90L		NM_000634.2	NP_000625.1	P25024	CXCR1_HUMAN	chemokine (C-X-C motif) receptor 1	90					dendritic cell chemotaxis|inflammatory response	integral to membrane|plasma membrane	interleukin-8 receptor activity			endometrium(1)|large_intestine(2)|lung(7)|prostate(3)	13						TGGGCAAGGTCAGGGCAAAGA	0.557													4	73					0	0	1	0	0	T	219029665	C	T	219029665	2	4	379	1	0	0	0	0	0	0	0	1	4113	813	29	2		2	CXCR1	2	219029665	Silent	SNP	C	TCGA-QH-A65X-01A-11D-A32B-08	115755397	219029665	24169708	9	32643											
MED12L	116931	broad.mit.edu	37	3	151129236	151129236	+	Silent	SNP	G	G	A			TCGA-QH-A65X-01A-11D-A32B-08	TCGA-QH-A65X-10D-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32544a75-ede9-469c-a607-f954f919b504	f07e106d-56c9-4bc8-8ab6-10829e09a840	g.chr3:151129236G>A	ENST00000474524.1	+	39	6014	c.5976G>A	c.(5974-5976)ccG>ccA	p.P1992P	MED12L_ENST00000273432.4_Intron	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	1992	Gln-rich.				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			AGCAGCAGCCGAGTGGCTATG	0.542													29	54					0	0	1	0	0	A	151129236	G	A	151129236	2	1	379	1	0	0	0	0	0	0	0	1	9479	1045	37	1		1	MED12L	3	151129236	Silent	SNP	G	TCGA-QH-A65X-01A-11D-A32B-08		151129236	46893194	10	32644											
ARSK	153642	broad.mit.edu	37	5	94927146	94927146	+	Missense_Mutation	SNP	A	A	G			TCGA-QH-A65X-01A-11D-A32B-08	TCGA-QH-A65X-10D-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32544a75-ede9-469c-a607-f954f919b504	f07e106d-56c9-4bc8-8ab6-10829e09a840	g.chr5:94927146A>G	ENST00000380009.4	+	6	1118	c.913A>G	c.(913-915)Aaa>Gaa	p.K305E		NM_198150.2	NP_937793.1	Q6UWY0	ARSK_HUMAN	arylsulfatase family, member K	305						extracellular region	arylsulfatase activity|metal ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(1)	16		all_cancers(142;3.38e-06)|all_epithelial(76;6.57e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473)		all cancers(79;6.5e-16)		TCTTCTTCAGAAAACTATTGT	0.368													9	74					0	0	1	0	0	G	94927146	A	G	94927146	3	3	379	1	0	0	0	0	1	0	0	0	995	247	9	3	935	3	ARSK	5	94927146	Missense_Mutation	SNP	A	TCGA-QH-A65X-01A-11D-A32B-08		94927146	85988114	11	32645											
COL12A1	1303	broad.mit.edu	37	6	75844499	75844499	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A65X-01A-11D-A32B-08	TCGA-QH-A65X-10D-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32544a75-ede9-469c-a607-f954f919b504	f07e106d-56c9-4bc8-8ab6-10829e09a840	g.chr6:75844499C>T	ENST00000322507.8	-	32	5776	c.5467G>A	c.(5467-5469)Gta>Ata	p.V1823I	COL12A1_ENST00000416123.2_Missense_Mutation_p.V1823I|COL12A1_ENST00000483888.2_Missense_Mutation_p.V1823I|COL12A1_ENST00000345356.6_Missense_Mutation_p.V659I	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	1823	Fibronectin type-III 13.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						AGAGAGGATACGGTGATAGTG	0.468													28	30					0	0	1	0	0	T	75844499	C	T	75844499	3	4	379	1	0	0	0	0	1	0	0	0	3692	536	19	1	3864	1	COL12A1	6	75844499	Missense_Mutation	SNP	C	TCGA-QH-A65X-01A-11D-A32B-08		75844499	95270568	12	32646											
SYNE1	23345	broad.mit.edu	37	6	152652511	152652511	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A65X-01A-11D-A32B-08	TCGA-QH-A65X-10D-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32544a75-ede9-469c-a607-f954f919b504	f07e106d-56c9-4bc8-8ab6-10829e09a840	g.chr6:152652511G>A	ENST00000367255.5	-	78	13910	c.13309C>T	c.(13309-13311)Ctc>Ttc	p.L4437F	SYNE1_ENST00000448038.1_Missense_Mutation_p.L4366F|SYNE1_ENST00000341594.5_Missense_Mutation_p.L4302F|SYNE1_ENST00000265368.4_Missense_Mutation_p.L4437F|SYNE1_ENST00000423061.1_Missense_Mutation_p.L4366F	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	4437					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		AAGTCACTGAGACAATTCACG	0.493										HNSCC(10;0.0054)			17	34					0	0	1	0	0	A	152652511	G	A	152652511	3	1	379	1	0	0	0	0	1	0	0	0	15502	942	33	2	13433	2	SYNE1	6	152652511	Missense_Mutation	SNP	G	TCGA-QH-A65X-01A-11D-A32B-08	76808012	152652511	18462556	13	32647											
NUDT18	79873	broad.mit.edu	37	8	21965771	21965771	+	Frame_Shift_Del	DEL	G	G	-			TCGA-QH-A65X-01A-11D-A32B-08	TCGA-QH-A65X-10D-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32544a75-ede9-469c-a607-f954f919b504	f07e106d-56c9-4bc8-8ab6-10829e09a840	g.chr8:21965771delG	ENST00000309188.6	-	4	367	c.249delC	c.(247-249)accfs	p.T83fs	NUDT18_ENST00000522405.1_Frame_Shift_Del_p.T6fs|NUDT18_ENST00000521807.2_3'UTR	NM_024815.3	NP_079091.3	Q6ZVK8	NUD18_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 18	83	Nudix hydrolase.						hydrolase activity|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|lung(2)	4				Colorectal(74;0.00185)|COAD - Colon adenocarcinoma(73;0.0608)|READ - Rectum adenocarcinoma(5;0.0986)		CCTCCACGATGGTCTCCCCTG	0.677													2	4	---	---	---	---						-	21965771	G	-	21965771	7	5	379	1	0	1	0	1	0	0	0	0	10783	1335	47	0	730	0	NUDT18	8	21965771	Frame_Shift_Del	DEL	G	TCGA-QH-A65X-01A-11D-A32B-08		21965771	124398251	14	32648											
PTPRD	5789	broad.mit.edu	37	9	8518239	8518242	+	Frame_Shift_Del	DEL	ACTT	ACTT	-			TCGA-QH-A65X-01A-11D-A32B-08	TCGA-QH-A65X-10D-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32544a75-ede9-469c-a607-f954f919b504	f07e106d-56c9-4bc8-8ab6-10829e09a840	g.chr9:8518239_8518242delACTT	ENST00000381196.4	-	18	1692_1695	c.1149_1152delAAGT	c.(1147-1152)ctaagtfs	p.LS383fs	PTPRD_ENST00000397617.3_Frame_Shift_Del_p.LS373fs|PTPRD_ENST00000360074.4_Frame_Shift_Del_p.LS370fs|PTPRD_ENST00000355233.5_Frame_Shift_Del_p.LS383fs|PTPRD_ENST00000540109.1_Frame_Shift_Del_p.LS383fs|PTPRD_ENST00000356435.5_Frame_Shift_Del_p.LS383fs|PTPRD_ENST00000397611.3_Frame_Shift_Del_p.LS380fs|PTPRD_ENST00000537002.1_Frame_Shift_Del_p.LS380fs|PTPRD_ENST00000358503.5_Frame_Shift_Del_p.LS370fs|PTPRD_ENST00000486161.1_Frame_Shift_Del_p.LS383fs|PTPRD_ENST00000397606.3_Frame_Shift_Del_p.LS373fs	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	383	Fibronectin type-III 1.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		CCGAGTAGGGACTTAGTCCAGCGA	0.461										TSP Lung(15;0.13)			68	95	---	---	---	---						-	8518242	ACTT	-	8518239	7	5	379	1	0	1	0	1	0	0	0	0	12851	272	10	0	4758	0	PTPRD	9	8518239	Frame_Shift_Del	DEL	ACTT	TCGA-QH-A65X-01A-11D-A32B-08		8518239	132695192	15	32649											
ENTPD1	953	broad.mit.edu	37	10	97605324	97605325	+	Frame_Shift_Del	DEL	CT	CT	-	rs140773352		TCGA-QH-A65X-01A-11D-A32B-08	TCGA-QH-A65X-10D-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32544a75-ede9-469c-a607-f954f919b504	f07e106d-56c9-4bc8-8ab6-10829e09a840	g.chr10:97605324_97605325delCT	ENST00000371203.5	+	5	957_958	c.370_371delCT	c.(370-372)ctcfs	p.L124fs	RP11-429G19.3_ENST00000433113.1_RNA|ENTPD1_ENST00000539125.1_Frame_Shift_Del_p.L124fs|ENTPD1_ENST00000371207.3_Frame_Shift_Del_p.L274fs|ENTPD1-AS1_ENST00000416301.1_RNA|ENTPD1_ENST00000543964.1_Frame_Shift_Del_p.L154fs|ENTPD1_ENST00000453258.2_Frame_Shift_Del_p.L269fs|ENTPD1_ENST00000371205.4_Frame_Shift_Del_p.L262fs	NM_001164179.1|NM_001164182.1|NM_001776.5	NP_001157651.1|NP_001157654.1|NP_001767.3	P49961	ENTP1_HUMAN	ectonucleoside triphosphate diphosphohydrolase 1	262					cell adhesion	integral to plasma membrane	ATP binding			cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|skin(1)	16		Colorectal(252;0.0821)		Epithelial(162;1.31e-07)|all cancers(201;5.33e-06)		GGATCAGGCACTCTGGCAGAAA	0.5													18	58	---	---	---	---						-	97605325	CT	-	97605324	7	5	379	1	0	1	0	1	0	0	0	0	5166	565	20	0	903	0	ENTPD1	10	97605324	Frame_Shift_Del	DEL	CT	TCGA-QH-A65X-01A-11D-A32B-08		97605324	37929423	16	32650											
ANO9	338440	broad.mit.edu	37	11	429619	429619	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A65X-01A-11D-A32B-08	TCGA-QH-A65X-10D-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32544a75-ede9-469c-a607-f954f919b504	f07e106d-56c9-4bc8-8ab6-10829e09a840	g.chr11:429619C>T	ENST00000332826.6	-	11	950	c.866G>A	c.(865-867)cGc>cAc	p.R289H		NM_001012302.2	NP_001012302	A1A5B4	ANO9_HUMAN	anoctamin 9	289						chloride channel complex	chloride channel activity			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|lung(5)|ovary(1)|prostate(4)|skin(4)	21						CACGCGGGCGCGCTGCCGCTT	0.687													18	55					0	0	1	0	0	T	429619	C	T	429619	3	4	379	1	0	0	0	0	1	0	0	0	698	768	27	1	1534	1	ANO9	11	429619	Missense_Mutation	SNP	C	TCGA-QH-A65X-01A-11D-A32B-08		429619	134576897	17	32651											
SYT1	6857	broad.mit.edu	37	12	79837981	79837981	+	Missense_Mutation	SNP	A	A	G			TCGA-QH-A65X-01A-11D-A32B-08	TCGA-QH-A65X-10D-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32544a75-ede9-469c-a607-f954f919b504	f07e106d-56c9-4bc8-8ab6-10829e09a840	g.chr12:79837981A>G	ENST00000261205.4	+	10	1714	c.1057A>G	c.(1057-1059)Atc>Gtc	p.I353V	SYT1_ENST00000457153.2_Missense_Mutation_p.I350V|RP1-78O14.1_ENST00000550268.1_lincRNA|SYT1_ENST00000393240.3_Missense_Mutation_p.I353V|SYT1_ENST00000552744.1_Missense_Mutation_p.I353V	NM_005639.2	NP_005630.1	P21579	SYT1_HUMAN	synaptotagmin I	353	C2 2.|Phospholipid binding (Probable).				detection of calcium ion|glutamate secretion|neurotransmitter secretion|protein homooligomerization	cell junction|chromaffin granule membrane|clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	1-phosphatidylinositol binding|low-density lipoprotein particle receptor binding|metal ion binding|syntaxin-1 binding|transporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|pancreas(2)|skin(6)	25						TTTTGAACAAATCCAGGTAAT	0.358													51	74					0	0	1	0	0	G	79837981	A	G	79837981	3	3	379	1	0	0	0	0	1	0	0	0	15522	101	4	3	1083	3	SYT1	12	79837981	Missense_Mutation	SNP	A	TCGA-QH-A65X-01A-11D-A32B-08		79837981	54013914	18	32652											
NUFIP1	26747	broad.mit.edu	37	13	45517620	45517620	+	Missense_Mutation	SNP	G	G	A	rs115794259	byFrequency	TCGA-QH-A65X-01A-11D-A32B-08	TCGA-QH-A65X-10D-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32544a75-ede9-469c-a607-f954f919b504	f07e106d-56c9-4bc8-8ab6-10829e09a840	g.chr13:45517620G>A	ENST00000379161.4	-	9	1374	c.1328C>T	c.(1327-1329)aCg>aTg	p.T443M		NM_012345.2	NP_036477.2	Q9UHK0	NUFP1_HUMAN	nuclear fragile X mental retardation protein interacting protein 1	443					box C/D snoRNP assembly|positive regulation of transcription from RNA polymerase II promoter|RNA processing	actin cytoskeleton|cytosolic ribosome|nuclear matrix|nucleolus|perichromatin fibrils|pre-snoRNP complex|presynaptic active zone|transcription elongation factor complex	DNA binding|identical protein binding|protein binding, bridging|RNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(4)|skin(3)	18		Lung NSC(96;8.23e-05)|Breast(139;0.00378)|Prostate(109;0.0107)|all_hematologic(4;0.014)|Lung SC(185;0.0262)|Hepatocellular(98;0.0524)|Acute lymphoblastic leukemia(4;0.143)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000306)|BRCA - Breast invasive adenocarcinoma(63;0.125)		TTCGAATAACGTTTGATAGTT	0.333													25	80					0	0	1	0	0	A	45517620	G	A	45517620	3	1	379	1	0	0	0	0	1	0	0	0	10796	1145	40	1	167	1	NUFIP1	13	45517620	Missense_Mutation	SNP	G	TCGA-QH-A65X-01A-11D-A32B-08		45517620	69652258	19	32653											
PACS2	23241	broad.mit.edu	37	14	105818792	105818794	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-QH-A65X-01A-11D-A32B-08	TCGA-QH-A65X-10D-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32544a75-ede9-469c-a607-f954f919b504	f07e106d-56c9-4bc8-8ab6-10829e09a840	g.chr14:105818792_105818794delCTT	ENST00000447393.1	+	3	460_462	c.285_287delCTT	c.(283-288)accttc>acc	p.F96del	PACS2_ENST00000325438.8_In_Frame_Del_p.F96del|PACS2_ENST00000458164.2_In_Frame_Del_p.F96del|PACS2_ENST00000547217.1_Intron|PACS2_ENST00000430725.2_In_Frame_Del_p.F29del	NM_015197.3	NP_056012.2	Q86VP3	PACS2_HUMAN	phosphofurin acidic cluster sorting protein 2	96					apoptosis|interspecies interaction between organisms	endoplasmic reticulum lumen|mitochondrion				endometrium(2)|kidney(2)|lung(7)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	21		all_cancers(154;0.0351)|all_epithelial(191;0.153)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.0145)|Epithelial(46;0.036)	Epithelial(152;0.138)		TGGCCCTGACCTTCTCCTTGCAG	0.606											OREG0022968	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	53	70	---	---	---	---						-	105818794	CTT	-	105818792	7	5	379	1	0	1	0	1	0	0	0	0	11420	668	24	0	295	0	PACS2	14	105818792	In_Frame_Del	DEL	CTT	TCGA-QH-A65X-01A-11D-A32B-08		105818792	1530748	20	32654											
IDH2	3418	broad.mit.edu	37	15	90631838	90631838	+	Missense_Mutation	SNP	C	C	T	rs121913503		TCGA-QH-A65X-01A-11D-A32B-08	TCGA-QH-A65X-10D-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32544a75-ede9-469c-a607-f954f919b504	f07e106d-56c9-4bc8-8ab6-10829e09a840	g.chr15:90631838C>T	ENST00000330062.3	-	4	628	c.515G>A	c.(514-516)aGg>aAg	p.R172K	IDH2_ENST00000559482.1_Intron|IDH2_ENST00000540499.2_Missense_Mutation_p.R120K|IDH2_ENST00000539790.1_Missense_Mutation_p.R42K	NM_002168.2	NP_002159.2	P48735	IDHP_HUMAN	isocitrate dehydrogenase 2 (NADP+), mitochondrial	172					2-oxoglutarate metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding	p.R172K(116)|p.R172M(21)|p.R172N(1)		biliary_tract(11)|bone(19)|central_nervous_system(107)|endometrium(1)|haematopoietic_and_lymphoid_tissue(953)|large_intestine(8)|lung(5)|skin(5)	1109	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.106)			ATGGGCGTGCCTGCCAATGGT	0.632			M		GBM								21	32					0	0	1	0	0	T	90631838	C	T	90631838	3	4	379	1	0	0	0	0	1	0	0	0	7539	681	24	2	875	2	IDH2	15	90631838	Missense_Mutation	SNP	C	TCGA-QH-A65X-01A-11D-A32B-08		90631838	11899554	21	32655											
KCTD5	54442	broad.mit.edu	37	16	2747985	2747985	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A65X-01A-11D-A32B-08	TCGA-QH-A65X-10D-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32544a75-ede9-469c-a607-f954f919b504	f07e106d-56c9-4bc8-8ab6-10829e09a840	g.chr16:2747985G>A	ENST00000301738.4	+	3	514	c.440G>A	c.(439-441)aGc>aAc	p.S147N	KCTD5_ENST00000564195.1_Intron	NM_018992.3	NP_061865.1	Q9NXV2	KCTD5_HUMAN	potassium channel tetramerization domain containing 5	147					interspecies interaction between organisms	cytosol|nucleus|voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			haematopoietic_and_lymphoid_tissue(1)|lung(1)	2						GAACGAGACAGCAAAACATCG	0.438													3	49					0	0	1	0	0	A	2747985	G	A	2747985	3	1	379	1	0	0	0	0	1	0	0	0	8156	971	34	2	450	2	KCTD5	16	2747985	Missense_Mutation	SNP	G	TCGA-QH-A65X-01A-11D-A32B-08		2747985	87606768	22	32656											
MARVELD3	91862	broad.mit.edu	37	16	71668160	71668160	+	Nonsense_Mutation	SNP	C	C	A			TCGA-QH-A65X-01A-11D-A32B-08	TCGA-QH-A65X-10D-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32544a75-ede9-469c-a607-f954f919b504	f07e106d-56c9-4bc8-8ab6-10829e09a840	g.chr16:71668160C>A	ENST00000268485.3	+	3	704	c.660C>A	c.(658-660)taC>taA	p.Y220*	MARVELD3_ENST00000565261.1_Intron|MARVELD3_ENST00000299952.4_Intron|MARVELD3_ENST00000567501.1_Missense_Mutation_p.Q34K	NM_052858.4	NP_443090.4	Q96A59	MALD3_HUMAN	MARVEL domain containing 3	220	MARVEL.					integral to membrane				NS(1)|endometrium(3)|large_intestine(5)|lung(6)|skin(2)	17		Ovarian(137;0.125)				CTGTGTCTTACAGTTCCACAG	0.532													43	55					7.05121e-23	7.40377e-23	1	1	0	A	71668160	C	A	71668160	4	1	379	1	0	0	0	0	0	1	0	0	9369	489	17	5	670	5	MARVELD3	16	71668160	Nonsense_Mutation	SNP	C	TCGA-QH-A65X-01A-11D-A32B-08	68920175	71668160	18686593	23	32657											
SERPINB3	6317	broad.mit.edu	37	18	61323094	61323094	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A65X-01A-11D-A32B-08	TCGA-QH-A65X-10D-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32544a75-ede9-469c-a607-f954f919b504	f07e106d-56c9-4bc8-8ab6-10829e09a840	g.chr18:61323094C>T	ENST00000283752.5	-	8	1113	c.970G>A	c.(970-972)Gtg>Atg	p.V324M	SERPINB11_ENST00000489748.1_RNA|SERPINB3_ENST00000332821.8_Missense_Mutation_p.V272M	NM_006919.2	NP_008850.1	P29508	SPB3_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 3	324					regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	36						CCAGATAGCACGAGACCGCGG	0.547													33	35					0	0	1	0	0	T	61323094	C	T	61323094	3	4	379	1	0	0	0	0	1	0	0	0	14156	536	19	1	206	1	SERPINB3	18	61323094	Missense_Mutation	SNP	C	TCGA-QH-A65X-01A-11D-A32B-08		61323094	16754154	24	32658											
GRIN3B	116444	broad.mit.edu	37	19	1005263	1005263	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A65X-01A-11D-A32B-08	TCGA-QH-A65X-10D-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32544a75-ede9-469c-a607-f954f919b504	f07e106d-56c9-4bc8-8ab6-10829e09a840	g.chr19:1005263C>T	ENST00000234389.3	+	3	1782	c.1763C>T	c.(1762-1764)aCc>aTc	p.T588I	GRIN3B_ENST00000588335.1_3'UTR	NM_138690.1	NP_619635.1	O60391	NMD3B_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3B	588					ionotropic glutamate receptor signaling pathway|protein insertion into membrane|regulation of calcium ion transport	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|ionotropic glutamate receptor activity|neurotransmitter receptor activity			breast(1)|kidney(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000226)|all_lung(49;0.000353)|Breast(49;0.00066)		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)	Glycine(DB00145)|L-Glutamic Acid(DB00142)|Orphenadrine(DB01173)	CTGCACCTCACCGCGCTCTTC	0.662													22	25					0	0	1	0	0	T	1005263	C	T	1005263	3	4	379	1	0	0	0	0	1	0	0	0	6825	507	18	2	1773	2	GRIN3B	19	1005263	Missense_Mutation	SNP	C	TCGA-QH-A65X-01A-11D-A32B-08		1005263	58123720	25	32659											
CIC	23152	broad.mit.edu	37	19	42799051	42799051	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A65X-01A-11D-A32B-08	TCGA-QH-A65X-10D-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32544a75-ede9-469c-a607-f954f919b504	f07e106d-56c9-4bc8-8ab6-10829e09a840	g.chr19:42799051G>A	ENST00000572681.2	+	21	7321	c.7253G>A	c.(7252-7254)cGt>cAt	p.R2418H	CIC_ENST00000160740.3_Missense_Mutation_p.R1510H|CIC_ENST00000575354.2_Missense_Mutation_p.R1512H			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	1512					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				TTGAAGATCCGTGAGGTGCGC	0.627			"Mis, F, S"		oligodendroglioma								32	11					0	0	1	0	0	A	42799051	G	A	42799051	3	1	379	1	0	0	0	0	1	0	0	0	3446	1145	40	1	4613	1	CIC	19	42799051	Missense_Mutation	SNP	G	TCGA-QH-A65X-01A-11D-A32B-08	41793788	42799051	16329932	26	32660											
TFAP2C	7022	broad.mit.edu	37	20	55211767	55211767	+	Nonsense_Mutation	SNP	C	C	T			TCGA-QH-A65X-01A-11D-A32B-08	TCGA-QH-A65X-10D-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32544a75-ede9-469c-a607-f954f919b504	f07e106d-56c9-4bc8-8ab6-10829e09a840	g.chr20:55211767C>T	ENST00000201031.2	+	6	1267	c.1024C>T	c.(1024-1026)Cga>Tga	p.R342*	TFAP2C_ENST00000544508.1_Nonsense_Mutation_p.R173*	NM_003222.3	NP_003213.1	Q92754	AP2C_HUMAN	transcription factor AP-2 gamma (activating enhancer binding protein 2 gamma)	342	H-S-H (helix-span-helix), dimerization.				cell-cell signaling|male gonad development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	13			Colorectal(105;0.229)			TCTTGGAGGACGAAATGAGAT	0.443													25	32					0	0	1	0	0	T	55211767	C	T	55211767	4	4	379	1	0	0	0	0	0	1	0	0	15849	528	19	1	1046	1	TFAP2C	20	55211767	Nonsense_Mutation	SNP	C	TCGA-QH-A65X-01A-11D-A32B-08		55211767	7813753	27	32661											
ZXDB	158586	broad.mit.edu	37	X	57618946	57618946	+	Silent	SNP	G	G	A			TCGA-QH-A65X-01A-11D-A32B-08	TCGA-QH-A65X-10D-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32544a75-ede9-469c-a607-f954f919b504	f07e106d-56c9-4bc8-8ab6-10829e09a840	g.chrX:57618946G>A	ENST00000374888.1	+	1	678	c.465G>A	c.(463-465)ccG>ccA	p.P155P		NM_007157.3	NP_009088.1	P98169	ZXDB_HUMAN	zinc finger, X-linked, duplicated B	155					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(2)|skin(6)	27						ctccggccccgatctccgccc	0.741													4	6					0	0	1	0	0	A	57618946	G	A	57618946	2	1	379	1	0	0	0	0	0	0	0	1	18291	1045	37	1		1	ZXDB	23	57618946	Silent	SNP	G	TCGA-QH-A65X-01A-11D-A32B-08		57618946	97651614	28	32662											
VSIG1	340547	broad.mit.edu	37	X	107288369	107288369	+	Silent	SNP	C	C	T			TCGA-QH-A65X-01A-11D-A32B-08	TCGA-QH-A65X-10D-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32544a75-ede9-469c-a607-f954f919b504	f07e106d-56c9-4bc8-8ab6-10829e09a840	g.chrX:107288369C>T	ENST00000415430.3	+	1	170	c.9C>T	c.(7-9)ttC>ttT	p.F3F	VSIG1_ENST00000217957.5_Silent_p.F3F	NM_001170553.1	NP_001164024.1	Q86XK7	VSIG1_HUMAN	V-set and immunoglobulin domain containing 1	3						integral to membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	17						CAATGGTGTTCGCATTTTGGA	0.448													3	13					0	0	1	0	0	T	107288369	C	T	107288369	2	4	379	1	0	0	0	0	0	0	0	1	17282	883	31	1		1	VSIG1	23	107288369	Silent	SNP	C	TCGA-QH-A65X-01A-11D-A32B-08	49669423	107288369	47982191	29	32663											
ARHGAP36	158763	broad.mit.edu	37	X	130220336	130220336	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A65X-01A-11D-A32B-08	TCGA-QH-A65X-10D-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32544a75-ede9-469c-a607-f954f919b504	f07e106d-56c9-4bc8-8ab6-10829e09a840	g.chrX:130220336C>T	ENST00000276211.5	+	10	1660	c.1315C>T	c.(1315-1317)Cgc>Tgc	p.R439C	ARHGAP36_ENST00000370921.1_Missense_Mutation_p.R303C|ARHGAP36_ENST00000370922.1_Missense_Mutation_p.R427C	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN	Rho GTPase activating protein 36	439					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	p.R439C(1)		breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						GGTTGCTAAGCGCGTGTGGAA	0.453													31	44					0	0	1	0	0	T	130220336	C	T	130220336	3	4	379	1	0	0	0	0	1	0	0	0	880	768	27	1	1349	1	ARHGAP36	23	130220336	Missense_Mutation	SNP	C	TCGA-QH-A65X-01A-11D-A32B-08	22931967	130220336	25050224	30	32664											
EXTL1	2134	broad.mit.edu	37	1	26349229	26349229	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A65Z-01A-11D-A29Q-08	TCGA-QH-A65Z-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a802c3-cb5f-48d0-b06f-8a526841caf2	d2f44aee-6bf6-4683-a741-75833c96b28c	g.chr1:26349229G>A	ENST00000374280.3	+	1	959	c.92G>A	c.(91-93)cGc>cAc	p.R31H		NM_004455.2	NP_004446.2	Q92935	EXTL1_HUMAN	exostosin-like glycosyltransferase 1	31					skeletal system development	integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|stomach(1)|urinary_tract(1)	23		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;6.44e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00594)|READ - Rectum adenocarcinoma(331;0.0649)		TCCCTTCTCCGCCTGGCATTG	0.657													28	11					0	0	1	0	0	A	26349229	G	A	26349229	3	1	380	1	0	0	0	0	1	0	0	0	5353	1087	38	1	94	1	EXTL1	1	26349229	Missense_Mutation	SNP	G	TCGA-QH-A65Z-01A-11D-A29Q-08		26349229	222901392	1	32665											
G0S2	50486	broad.mit.edu	37	1	209849305	209849305	+	Silent	SNP	C	C	T			TCGA-QH-A65Z-01A-11D-A29Q-08	TCGA-QH-A65Z-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a802c3-cb5f-48d0-b06f-8a526841caf2	d2f44aee-6bf6-4683-a741-75833c96b28c	g.chr1:209849305C>T	ENST00000367029.4	+	2	438	c.276C>T	c.(274-276)ggC>ggT	p.G92G	RP1-28O10.1_ENST00000441672.1_RNA	NM_015714.3	NP_056529.1	P27469	G0S2_HUMAN	G0/G1switch 2	92					cell cycle					large_intestine(2)	2				OV - Ovarian serous cystadenocarcinoma(81;0.041)		CGGTCCTCGGCGGCCGGGCCC	0.667													13	22					0	0	1	0	0	T	209849305	C	T	209849305	2	4	380	1	0	0	0	0	0	0	0	1	6174	755	27	1		1	G0S2	1	209849305	Silent	SNP	C	TCGA-QH-A65Z-01A-11D-A29Q-08	183500076	209849305	39401316	2	32666											
RYR2	6262	broad.mit.edu	37	1	237957283	237957283	+	Silent	SNP	C	C	T			TCGA-QH-A65Z-01A-11D-A29Q-08	TCGA-QH-A65Z-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a802c3-cb5f-48d0-b06f-8a526841caf2	d2f44aee-6bf6-4683-a741-75833c96b28c	g.chr1:237957283C>T	ENST00000366574.2	+	95	14216	c.13899C>T	c.(13897-13899)ctC>ctT	p.L4633L	RYR2_ENST00000542537.1_Silent_p.L4617L|RYR2_ENST00000360064.6_Silent_p.L4639L	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4633					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GGGATAGACTCGTAATCAACA	0.363													15	18					0	0	1	0	0	T	237957283	C	T	237957283	2	4	380	1	0	0	0	0	0	0	0	1	13821	871	31	1		1	RYR2	1	237957283	Silent	SNP	C	TCGA-QH-A65Z-01A-11D-A29Q-08	28107978	237957283	11293338	3	32667											
FZD7	8324	broad.mit.edu	37	2	202900715	202900715	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A65Z-01A-11D-A29Q-08	TCGA-QH-A65Z-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a802c3-cb5f-48d0-b06f-8a526841caf2	d2f44aee-6bf6-4683-a741-75833c96b28c	g.chr2:202900715C>T	ENST00000286201.1	+	1	1406	c.1345C>T	c.(1345-1347)Cgt>Tgt	p.R449C		NM_003507.1	NP_003498.1	O75084	FZD7_HUMAN	frizzled family receptor 7	449					axonogenesis|brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|mesenchymal to epithelial transition|negative regulation of cell-substrate adhesion|negative regulation of ectodermal cell fate specification|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of phosphorylation|positive regulation of transcription, DNA-dependent|regulation of catenin import into nucleus|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			breast(1)|endometrium(6)|large_intestine(6)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	31						GTCCCTCTTCCGTATCCGCAC	0.612											OREG0015146	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	34	93					0	0	1	0	0	T	202900715	C	T	202900715	3	4	380	1	0	0	0	0	1	0	0	0	6170	652	23	1	1347	1	FZD7	2	202900715	Missense_Mutation	SNP	C	TCGA-QH-A65Z-01A-11D-A29Q-08		202900715	40298658	4	32668											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-QH-A65Z-01A-11D-A29Q-08	TCGA-QH-A65Z-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a802c3-cb5f-48d0-b06f-8a526841caf2	d2f44aee-6bf6-4683-a741-75833c96b28c	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	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								22	34					0	0	1	0	0	T	209113112	C	T	209113112	3	4	380	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-QH-A65Z-01A-11D-A29Q-08	6212397	209113112	34086261	5	32669											
MAP2	4133	broad.mit.edu	37	2	210560876	210560878	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-QH-A65Z-01A-11D-A29Q-08	TCGA-QH-A65Z-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a802c3-cb5f-48d0-b06f-8a526841caf2	d2f44aee-6bf6-4683-a741-75833c96b28c	g.chr2:210560876_210560878delGAA	ENST00000360351.4	+	7	4488_4490	c.3982_3984delGAA	c.(3982-3984)gaadel	p.E1330del	MAP2_ENST00000361559.4_Intron|MAP2_ENST00000392194.1_Intron|MAP2_ENST00000447185.1_In_Frame_Del_p.E1326del|MAP2_ENST00000199940.6_Intron	NM_002374.3	NP_002365.3	P11137	MAP2_HUMAN	microtubule-associated protein 2	1330					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	TCCTCATGATGAAGAAGAGTTTG	0.537													7	136	---	---	---	---						-	210560878	GAA	-	210560876	7	5	380	1	0	1	0	1	0	0	0	0	9285	1291	45	0	3996	0	MAP2	2	210560876	In_Frame_Del	DEL	GAA	TCGA-QH-A65Z-01A-11D-A29Q-08	1447764	210560876	32638497	6	32670											
CTNNB1	1499	broad.mit.edu	37	3	41275294	41275294	+	Frame_Shift_Del	DEL	T	T	-			TCGA-QH-A65Z-01A-11D-A29Q-08	TCGA-QH-A65Z-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a802c3-cb5f-48d0-b06f-8a526841caf2	d2f44aee-6bf6-4683-a741-75833c96b28c	g.chr3:41275294delT	ENST00000349496.5	+	9	1740	c.1460delT	c.(1459-1461)cttfs	p.L487fs	CTNNB1_ENST00000396183.3_Frame_Shift_Del_p.L487fs|CTNNB1_ENST00000396185.3_Frame_Shift_Del_p.L487fs|CTNNB1_ENST00000453024.1_Frame_Shift_Del_p.L480fs|CTNNB1_ENST00000405570.1_Frame_Shift_Del_p.L487fs	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	487					adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens	alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding		CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	Lithium(DB01356)	GCAGTTCGCCTTCACTATGGA	0.493		15	"H, Mis, T"	PLAG1	"colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"				Pilomatrixoma, Familial Clustering of				105	166	---	---	---	---						-	41275294	T	-	41275294	7	5	380	1	0	1	0	1	0	0	0	0	4040	1609	56	0	1490	0	CTNNB1	3	41275294	Frame_Shift_Del	DEL	T	TCGA-QH-A65Z-01A-11D-A29Q-08		41275294	156747136	7	32671											
ECT2	1894	broad.mit.edu	37	3	172501694	172501694	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A65Z-01A-11D-A29Q-08	TCGA-QH-A65Z-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a802c3-cb5f-48d0-b06f-8a526841caf2	d2f44aee-6bf6-4683-a741-75833c96b28c	g.chr3:172501694C>T	ENST00000417960.1	+	16	2104	c.1627C>T	c.(1627-1629)Ctc>Ttc	p.L543F	ECT2_ENST00000232458.5_Missense_Mutation_p.L544F|ECT2_ENST00000427830.1_Missense_Mutation_p.L544F|ECT2_ENST00000441497.2_Missense_Mutation_p.L544F|ECT2_ENST00000540509.1_Missense_Mutation_p.L575F|ECT2_ENST00000392692.3_Missense_Mutation_p.L575F	NM_001258316.1	NP_001245245.1	Q9H8V3	ECT2_HUMAN	epithelial cell transforming sequence 2 oncogene	544	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity|signal transducer activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)			TCATGCTTTTCTCAAGGTAAT	0.274													17	22					0	0	1	0	0	T	172501694	C	T	172501694	3	4	380	1	0	0	0	0	1	0	0	0	4927	913	32	2	1684	2	ECT2	3	172501694	Missense_Mutation	SNP	C	TCGA-QH-A65Z-01A-11D-A29Q-08	131226400	172501694	25520736	8	32672											
RBM47	54502	broad.mit.edu	37	4	40440295	40440295	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A65Z-01A-11D-A29Q-08	TCGA-QH-A65Z-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a802c3-cb5f-48d0-b06f-8a526841caf2	d2f44aee-6bf6-4683-a741-75833c96b28c	g.chr4:40440295C>T	ENST00000319592.4	-	4	1325	c.616G>A	c.(616-618)Gcg>Acg	p.A206T	RBM47_ENST00000515809.1_Intron|RBM47_ENST00000381793.2_Missense_Mutation_p.A206T|RBM47_ENST00000295971.7_Missense_Mutation_p.A206T|RBM47_ENST00000514014.1_Missense_Mutation_p.A168T|RBM47_ENST00000381795.6_Missense_Mutation_p.A206T			A0AV96	RBM47_HUMAN	RNA binding motif protein 47	206	RRM 2.					nucleus	nucleotide binding|RNA binding			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						ATGGCAGCCGCGCGGTGGCTC	0.667													4	99					0	0	1	0	0	T	40440295	C	T	40440295	3	4	380	1	0	0	0	0	1	0	0	0	13193	768	27	1	1181	1	RBM47	4	40440295	Missense_Mutation	SNP	C	TCGA-QH-A65Z-01A-11D-A29Q-08		40440295	150713981	9	32673											
TACR3	6870	broad.mit.edu	37	4	104510918	104510918	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A65Z-01A-11D-A29Q-08	TCGA-QH-A65Z-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a802c3-cb5f-48d0-b06f-8a526841caf2	d2f44aee-6bf6-4683-a741-75833c96b28c	g.chr4:104510918G>A	ENST00000304883.2	-	5	1459	c.1319C>T	c.(1318-1320)tCt>tTt	p.S440F	RP11-297P16.3_ENST00000502936.1_RNA|RP11-297P16.3_ENST00000512401.1_RNA	NM_001059.2	NP_001050.1	P29371	NK3R_HUMAN	tachykinin receptor 3	440						integral to plasma membrane	tachykinin receptor activity			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		ATTCCTGCGAGAGCAGCCATT	0.478													68	107					0	0	1	0	0	A	104510918	G	A	104510918	3	1	380	1	0	0	0	0	1	0	0	0	15564	942	33	2	82	2	TACR3	4	104510918	Missense_Mutation	SNP	G	TCGA-QH-A65Z-01A-11D-A29Q-08	64070623	104510918	86643358	10	32674											
ABCE1	6059	broad.mit.edu	37	4	146044497	146044497	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A65Z-01A-11D-A29Q-08	TCGA-QH-A65Z-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a802c3-cb5f-48d0-b06f-8a526841caf2	d2f44aee-6bf6-4683-a741-75833c96b28c	g.chr4:146044497G>A	ENST00000296577.4	+	15	2020	c.1505G>A	c.(1504-1506)cGa>cAa	p.R502Q	OTUD4_ENST00000455611.2_Intron	NM_001040876.1|NM_002940.2	NP_001035809.1|NP_002931.2	P61221	ABCE1_HUMAN	ATP-binding cassette, sub-family E (OABP), member 1	502	ABC transporter 2.				interspecies interaction between organisms|response to virus|RNA catabolic process	mitochondrion	ATP binding|ATPase activity|electron carrier activity|iron-sulfur cluster binding|ribonuclease inhibitor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|lung(5)|prostate(2)|skin(3)	18	all_hematologic(180;0.151)					ATGGCAGCTCGAGTTGTCAAA	0.383													37	32					0	0	1	0	0	A	146044497	G	A	146044497	3	1	380	1	0	0	0	0	1	0	0	0	64	1058	37	1	1559	1	ABCE1	4	146044497	Missense_Mutation	SNP	G	TCGA-QH-A65Z-01A-11D-A29Q-08	41533579	146044497	45109779	11	32675											
SDHA	6389	broad.mit.edu	37	5	218471	218471	+	Translation_Start_Site	SNP	A	A	G	rs1061517		TCGA-QH-A65Z-01A-11D-A29Q-08	TCGA-QH-A65Z-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a802c3-cb5f-48d0-b06f-8a526841caf2	d2f44aee-6bf6-4683-a741-75833c96b28c	g.chr5:218471A>G	ENST00000264932.6	+	1	116	c.1A>G	c.(1-3)Atg>Gtg	p.M1V	SDHA_ENST00000504309.1_Start_Codon_SNP_p.M1V|SDHA_ENST00000510361.1_Start_Codon_SNP_p.M1V	NM_004168.2	NP_004159.2	P31040	DHSA_HUMAN	succinate dehydrogenase complex, subunit A, flavoprotein (Fp)	1					nervous system development|respiratory electron transport chain|succinate metabolic process|transport|tricarboxylic acid cycle	mitochondrial respiratory chain complex II	electron carrier activity|flavin adenine dinucleotide binding|protein binding|succinate dehydrogenase (ubiquinone) activity			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|liver(2)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	40			Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		Succinic acid(DB00139)	AACAGCAGACATGTCGGGGGT	0.776									Familial Paragangliomas				11	20					0	0	1	0	0	G	218471	A	G	218471	1	3	380	1	0	0	0	0	0	0	0	0	14017	217	8	3		3	SDHA	5	218471	Translation_Start_Site	SNP	A	TCGA-QH-A65Z-01A-11D-A29Q-08		218471	180696789	12	32676											
DNAJC21	134218	broad.mit.edu	37	5	34950354	34950354	+	Missense_Mutation	SNP	A	A	G			TCGA-QH-A65Z-01A-11D-A29Q-08	TCGA-QH-A65Z-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a802c3-cb5f-48d0-b06f-8a526841caf2	d2f44aee-6bf6-4683-a741-75833c96b28c	g.chr5:34950354A>G	ENST00000382021.2	+	11	1627	c.1400A>G	c.(1399-1401)gAc>gGc	p.D467G	DNAJC21_ENST00000342382.4_Missense_Mutation_p.D422G|DNAJC21_ENST00000303525.7_Missense_Mutation_p.D435G|DNAJC21_ENST00000512136.1_3'UTR	NM_194283.3	NP_919259.3	Q5F1R6	DJC21_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 21	422					protein folding	ribosome	heat shock protein binding|nucleic acid binding|unfolded protein binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(2)|upper_aerodigestive_tract(1)	21	all_lung(31;7.08e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)			TTAAATCAAGACAGTGCCAAA	0.358													3	47					0	0	1	0	0	G	34950354	A	G	34950354	3	3	380	1	0	0	0	0	1	0	0	0	4667	275	10	3	1442	3	DNAJC21	5	34950354	Missense_Mutation	SNP	A	TCGA-QH-A65Z-01A-11D-A29Q-08	34731883	34950354	145964906	13	32677											
PHF3	23469	broad.mit.edu	37	6	64423124	64423124	+	Silent	SNP	C	C	G			TCGA-QH-A65Z-01A-11D-A29Q-08	TCGA-QH-A65Z-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a802c3-cb5f-48d0-b06f-8a526841caf2	d2f44aee-6bf6-4683-a741-75833c96b28c	g.chr6:64423124C>G	ENST00000262043.3	+	16	5980	c.5640C>G	c.(5638-5640)ggC>ggG	p.G1880G	PHF3_ENST00000393387.1_Silent_p.G1880G			Q92576	PHF3_HUMAN	PHD finger protein 3	1880					multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			GGTATATAGGCCCGCAGAATT	0.507													12	148					0	0	1	0	0	G	64423124	C	G	64423124	2	3	380	1	0	0	0	0	0	0	0	1	11884	726	26	5		5	PHF3	6	64423124	Silent	SNP	C	TCGA-QH-A65Z-01A-11D-A29Q-08		64423124	106691943	14	32678											
TNS3	64759	broad.mit.edu	37	7	47408297	47408297	+	Missense_Mutation	SNP	C	C	G			TCGA-QH-A65Z-01A-11D-A29Q-08	TCGA-QH-A65Z-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a802c3-cb5f-48d0-b06f-8a526841caf2	d2f44aee-6bf6-4683-a741-75833c96b28c	g.chr7:47408297C>G	ENST00000398879.1	-	17	2312	c.1946G>C	c.(1945-1947)aGt>aCt	p.S649T	TNS3_ENST00000311160.9_Missense_Mutation_p.S649T|TNS3_ENST00000355730.3_Missense_Mutation_p.S409T			Q68CZ2	TENS3_HUMAN	tensin 3	649						focal adhesion	protein binding			NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						ATGTGGCCCACTGCCTACACC	0.642													4	174					0	0	1	0	0	G	47408297	C	G	47408297	3	3	380	1	0	0	0	0	1	0	0	0	16404	565	20	4	2451	4	TNS3	7	47408297	Missense_Mutation	SNP	C	TCGA-QH-A65Z-01A-11D-A29Q-08		47408297	111730366	15	32679											
SLC26A4	5172	broad.mit.edu	37	7	107314667	107314667	+	Silent	SNP	C	C	T			TCGA-QH-A65Z-01A-11D-A29Q-08	TCGA-QH-A65Z-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a802c3-cb5f-48d0-b06f-8a526841caf2	d2f44aee-6bf6-4683-a741-75833c96b28c	g.chr7:107314667C>T	ENST00000265715.3	+	5	698	c.474C>T	c.(472-474)gaC>gaT	p.D158D		NM_000441.1	NP_000432.1	O43511	S26A4_HUMAN	solute carrier family 26 (anion exchanger), member 4	158					regulation of pH|regulation of protein localization|sensory perception of sound	apical plasma membrane|integral to membrane	chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity			central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						TGGCCCCCGACGAACACTTTC	0.433									Pendred syndrome				5	80					0	0	1	0	0	T	107314667	C	T	107314667	2	4	380	1	0	0	0	0	0	0	0	1	14574	535	19	1		1	SLC26A4	7	107314667	Silent	SNP	C	TCGA-QH-A65Z-01A-11D-A29Q-08	59906370	107314667	51823996	16	32680											
SGK223	157285	broad.mit.edu	37	8	8234817	8234819	+	In_Frame_Del	DEL	TCA	TCA	-			TCGA-QH-A65Z-01A-11D-A29Q-08	TCGA-QH-A65Z-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a802c3-cb5f-48d0-b06f-8a526841caf2	d2f44aee-6bf6-4683-a741-75833c96b28c	g.chr8:8234817_8234819delTCA	ENST00000520004.1	-	3	1364_1366	c.1100_1102delTGA	c.(1099-1104)atgaag>aag	p.M367del	SGK223_ENST00000330777.4_In_Frame_Del_p.M367del			Q86YV5	SG223_HUMAN		367							ATP binding|non-membrane spanning protein tyrosine kinase activity										GCAGGTTCCTTCATGAGGGAGCA	0.68													15	26	---	---	---	---						-	8234819	TCA	-	8234817	7	5	380	1	0	1	0	1	0	0	0	0	14264	1792	62	0	3122	0	SGK223	8	8234817	In_Frame_Del	DEL	TCA	TCGA-QH-A65Z-01A-11D-A29Q-08		8234817	138129205	17	32681											
CREB3	10488	broad.mit.edu	37	9	35736644	35736644	+	Missense_Mutation	SNP	A	A	C			TCGA-QH-A65Z-01A-11D-A29Q-08	TCGA-QH-A65Z-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a802c3-cb5f-48d0-b06f-8a526841caf2	d2f44aee-6bf6-4683-a741-75833c96b28c	g.chr9:35736644A>C	ENST00000353704.2	+	9	1475	c.1037A>C	c.(1036-1038)cAg>cCg	p.Q346P	CREB3_ENST00000486056.1_3'UTR	NM_006368.4	NP_006359.3	O43889	CREB3_HUMAN	cAMP responsive element binding protein 3	370	Pro-rich.				chemotaxis|induction of positive chemotaxis|interspecies interaction between organisms|negative regulation of cell cycle|positive regulation of calcium ion transport|positive regulation of cell migration|positive regulation of transcription, DNA-dependent|reactivation of latent virus|regulation of cell proliferation	cytosol|endoplasmic reticulum|endoplasmic reticulum membrane|Golgi apparatus|integral to membrane|nucleus	cAMP response element binding protein binding|CCR1 chemokine receptor binding|DNA binding|protein dimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|urinary_tract(1)	9	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)	GBM - Glioblastoma multiforme(74;0.0285)		CTCCCCCTGCAGGCAAATCTC	0.567											OREG0019176	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	69	187					0	0	1	0	0	C	35736644	A	C	35736644	3	2	380	1	0	0	0	0	1	0	0	0	3878	188	7	5	1071	5	CREB3	9	35736644	Missense_Mutation	SNP	A	TCGA-QH-A65Z-01A-11D-A29Q-08		35736644	105476787	18	32682											
SVEP1	79987	broad.mit.edu	37	9	113194246	113194246	+	Missense_Mutation	SNP	A	A	G			TCGA-QH-A65Z-01A-11D-A29Q-08	TCGA-QH-A65Z-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a802c3-cb5f-48d0-b06f-8a526841caf2	d2f44aee-6bf6-4683-a741-75833c96b28c	g.chr9:113194246A>G	ENST00000401783.2	-	32	5638	c.5302T>C	c.(5302-5304)Tac>Cac	p.Y1768H	SVEP1_ENST00000374469.1_Missense_Mutation_p.Y1745H	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	1768	EGF-like 7; calcium-binding (Potential).				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						GAACATATGTAGGATCCATCT	0.378													28	64					0	0	1	0	0	G	113194246	A	G	113194246	3	3	380	1	0	0	0	0	1	0	0	0	15476	420	15	3	5481	3	SVEP1	9	113194246	Missense_Mutation	SNP	A	TCGA-QH-A65Z-01A-11D-A29Q-08	77457602	113194246	28019185	19	32683											
CNNM1	26507	broad.mit.edu	37	10	101124220	101124220	+	Missense_Mutation	SNP	A	A	G			TCGA-QH-A65Z-01A-11D-A29Q-08	TCGA-QH-A65Z-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a802c3-cb5f-48d0-b06f-8a526841caf2	d2f44aee-6bf6-4683-a741-75833c96b28c	g.chr10:101124220A>G	ENST00000356713.4	+	5	2364	c.2075A>G	c.(2074-2076)aAt>aGt	p.N692S	CNNM1_ENST00000446890.1_Missense_Mutation_p.N621S|CNNM1_ENST00000370534.4_Missense_Mutation_p.N327S|CNNM1_ENST00000370528.3_Missense_Mutation_p.N621S	NM_020348.2	NP_065081.2	Q9NRU3	CNNM1_HUMAN	cyclin M1	692					ion transport	integral to membrane|plasma membrane				NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(5)|ovary(1)|prostate(1)|skin(1)	25		Colorectal(252;0.234)		Epithelial(162;6.82e-10)|all cancers(201;5.62e-08)		CGCTTTGAAAATGGAGCCTTT	0.423													7	15					0	0	1	0	0	G	101124220	A	G	101124220	3	3	380	1	0	0	0	0	1	0	0	0	3635	101	4	3	2093	3	CNNM1	10	101124220	Missense_Mutation	SNP	A	TCGA-QH-A65Z-01A-11D-A29Q-08		101124220	34410527	20	32684											
ACACB	32	broad.mit.edu	37	12	109616926	109616926	+	Missense_Mutation	SNP	C	C	G			TCGA-QH-A65Z-01A-11D-A29Q-08	TCGA-QH-A65Z-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a802c3-cb5f-48d0-b06f-8a526841caf2	d2f44aee-6bf6-4683-a741-75833c96b28c	g.chr12:109616926C>G	ENST00000338432.7	+	10	1590	c.1471C>G	c.(1471-1473)Ctc>Gtc	p.L491V	ACACB_ENST00000377854.5_Missense_Mutation_p.L491V|ACACB_ENST00000543080.1_3'UTR|ACACB_ENST00000377848.3_Missense_Mutation_p.L491V			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	491	ATP-grasp.|Biotin carboxylation.				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	GCCCATCTTTCTCATGAAGCT	0.562													14	27					0	0	1	0	0	G	109616926	C	G	109616926	3	3	380	1	0	0	0	0	1	0	0	0	107	913	32	4	1505	4	ACACB	12	109616926	Missense_Mutation	SNP	C	TCGA-QH-A65Z-01A-11D-A29Q-08		109616926	24234969	21	32685											
RBBP6	5930	broad.mit.edu	37	16	24567746	24567747	+	Frame_Shift_Ins	INS	-	-	A			TCGA-QH-A65Z-01A-11D-A29Q-08	TCGA-QH-A65Z-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a802c3-cb5f-48d0-b06f-8a526841caf2	d2f44aee-6bf6-4683-a741-75833c96b28c	g.chr16:24567746_24567747insA	ENST00000319715.4	+	7	1084_1085	c.652_653insA	c.(652-654)tatfs	p.Y218fs	RBBP6_ENST00000381039.3_Frame_Shift_Ins_p.Y218fs|RBBP6_ENST00000348022.2_Frame_Shift_Ins_p.Y218fs	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	218					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		CACTGGAAAATATGCAATACCA	0.401													14	51	---	---	---	---						A	24567747	-	A	24567746	7	5	380	1	0	1	1	0	0	0	0	0	13155	1406	49	0	732	0	RBBP6	16	24567746	Frame_Shift_Ins	INS	-	TCGA-QH-A65Z-01A-11D-A29Q-08		24567746	65787007	22	32686											
ACSF3	197322	broad.mit.edu	37	16	89180794	89180794	+	Missense_Mutation	SNP	A	A	G			TCGA-QH-A65Z-01A-11D-A29Q-08	TCGA-QH-A65Z-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a802c3-cb5f-48d0-b06f-8a526841caf2	d2f44aee-6bf6-4683-a741-75833c96b28c	g.chr16:89180794A>G	ENST00000317447.4	+	6	1402	c.1025A>G	c.(1024-1026)aAg>aGg	p.K342R	CTD-2555A7.3_ENST00000562782.1_RNA|ACSF3_ENST00000378345.4_Missense_Mutation_p.K77R|ACSF3_ENST00000406948.3_Missense_Mutation_p.K342R	NM_001127214.2|NM_001243279.1|NM_001284316.1|NM_174917.3	NP_001120686.1|NP_001230208.1|NP_001271245.1|NP_777577.2	Q4G176	ACSF3_HUMAN	acyl-CoA synthetase family member 3	342					fatty acid metabolic process	mitochondrion	acid-thiol ligase activity|ATP binding			central_nervous_system(1)|endometrium(1)|kidney(2)|lung(9)|prostate(1)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(80;0.0281)		GTGCTGGAGAAGTGGAAGAAC	0.647													32	90					0	0	1	0	0	G	89180794	A	G	89180794	3	3	380	1	0	0	0	0	1	0	0	0	176	72	3	3	1039	3	ACSF3	16	89180794	Missense_Mutation	SNP	A	TCGA-QH-A65Z-01A-11D-A29Q-08	64613048	89180794	1173959	23	32687											
MED24	9862	broad.mit.edu	37	17	38188968	38188968	+	Missense_Mutation	SNP	G	G	T			TCGA-QH-A65Z-01A-11D-A29Q-08	TCGA-QH-A65Z-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a802c3-cb5f-48d0-b06f-8a526841caf2	d2f44aee-6bf6-4683-a741-75833c96b28c	g.chr17:38188968G>T	ENST00000394126.1	-	8	1363	c.945C>A	c.(943-945)ttC>ttA	p.F315L	MED24_ENST00000501516.3_Missense_Mutation_p.F309L|MED24_ENST00000356271.3_Missense_Mutation_p.F277L|MED24_ENST00000394128.2_Missense_Mutation_p.F290L|MED24_ENST00000394127.2_Missense_Mutation_p.F277L			O75448	MED24_HUMAN	mediator complex subunit 24	290					androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	41	Colorectal(19;0.000442)					TGAGCCCCACGAAGCAAGCTT	0.577													23	21					6.21321e-17	6.61842e-17	1	1	0	T	38188968	G	T	38188968	3	4	380	1	0	0	0	0	1	0	0	0	9492	1049	37	5	2171	5	MED24	17	38188968	Missense_Mutation	SNP	G	TCGA-QH-A65Z-01A-11D-A29Q-08		38188968	43006242	24	32688											
FAM20A	54757	broad.mit.edu	37	17	66533685	66533685	+	Missense_Mutation	SNP	C	C	G			TCGA-QH-A65Z-01A-11D-A29Q-08	TCGA-QH-A65Z-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a802c3-cb5f-48d0-b06f-8a526841caf2	d2f44aee-6bf6-4683-a741-75833c96b28c	g.chr17:66533685C>G	ENST00000592554.1	-	11	2281	c.1559G>C	c.(1558-1560)aGt>aCt	p.S520T	PRKAR1A_ENST00000588188.2_Intron|FAM20A_ENST00000226094.5_5'UTR	NM_001243746.1|NM_017565.3	NP_001230675.1|NP_060035.2	Q96MK3	FA20A_HUMAN	family with sequence similarity 20, member A	520						extracellular region				cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(1)	9	Breast(10;1.64e-13)					GACTATGACACTCTGCTGTCC	0.572													3	30					0	0	1	0	0	G	66533685	C	G	66533685	3	3	380	1	0	0	0	0	1	0	0	0	5569	565	20	4	70	4	FAM20A	17	66533685	Missense_Mutation	SNP	C	TCGA-QH-A65Z-01A-11D-A29Q-08	28344717	66533685	14661525	25	32689											
ZACN	353174	broad.mit.edu	37	17	74075804	74075805	+	Frame_Shift_Ins	INS	-	-	CC			TCGA-QH-A65Z-01A-11D-A29Q-08	TCGA-QH-A65Z-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a802c3-cb5f-48d0-b06f-8a526841caf2	d2f44aee-6bf6-4683-a741-75833c96b28c	g.chr17:74075804_74075805insCC	ENST00000334586.5	+	3	327_328	c.244_245insCC	c.(244-246)tccfs	p.S82fs	ZACN_ENST00000392503.2_Intron	NM_180990.3	NP_851321.2	Q401N2	ZACN_HUMAN	zinc activated ligand-gated ion channel	82					response to zinc ion	integral to membrane|membrane fraction|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	11						ATACACAATGTCCTCCATGCTG	0.569													21	55	---	---	---	---						CC	74075805	-	CC	74075804	7	5	380	1	0	1	1	0	0	0	0	0	17570	1667	58	0	254	0	ZACN	17	74075804	Frame_Shift_Ins	INS	-	TCGA-QH-A65Z-01A-11D-A29Q-08	7542119	74075804	7119406	26	32690											
ARRDC5	645432	broad.mit.edu	37	19	4891396	4891396	+	Missense_Mutation	SNP	G	G	C			TCGA-QH-A65Z-01A-11D-A29Q-08	TCGA-QH-A65Z-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a802c3-cb5f-48d0-b06f-8a526841caf2	d2f44aee-6bf6-4683-a741-75833c96b28c	g.chr19:4891396G>C	ENST00000381781.2	-	3	690	c.691C>G	c.(691-693)Cag>Gag	p.Q231E		NM_001080523.1	NP_001073992.1	A6NEK1	ARRD5_HUMAN	arrestin domain containing 5	231					signal transduction					endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0257)		CCCTCGTACTGTATGTGGGCA	0.587													13	31					0	0	1	0	0	C	4891396	G	C	4891396	3	2	380	1	0	0	0	0	1	0	0	0	985	1386	48	5	341	5	ARRDC5	19	4891396	Missense_Mutation	SNP	G	TCGA-QH-A65Z-01A-11D-A29Q-08		4891396	54237587	27	32691											
CIC	23152	broad.mit.edu	37	19	42797776	42797777	+	Frame_Shift_Del	DEL	GC	GC	-			TCGA-QH-A65Z-01A-11D-A29Q-08	TCGA-QH-A65Z-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a802c3-cb5f-48d0-b06f-8a526841caf2	d2f44aee-6bf6-4683-a741-75833c96b28c	g.chr19:42797776_42797777delGC	ENST00000572681.2	+	17	6617_6618	c.6549_6550delGC	c.(6547-6552)tggcgcfs	p.R2184fs	CIC_ENST00000575354.2_Frame_Shift_Del_p.R1277fs|CIC_ENST00000160740.3_Frame_Shift_Del_p.R1275fs			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	1277					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CTTCAGACTGGCGCGTCCCTGG	0.649			"Mis, F, S"		oligodendroglioma								10	8	---	---	---	---						-	42797777	GC	-	42797776	7	5	380	1	0	1	0	1	0	0	0	0	3446	1212	42	0	3890	0	CIC	19	42797776	Frame_Shift_Del	DEL	GC	TCGA-QH-A65Z-01A-11D-A29Q-08	37906380	42797776	16331207	28	32692											
CIC	23152	broad.mit.edu	37	19	42798989	42798990	+	Frame_Shift_Ins	INS	-	-	A	rs148444899		TCGA-QH-A65Z-01A-11D-A29Q-08	TCGA-QH-A65Z-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a802c3-cb5f-48d0-b06f-8a526841caf2	d2f44aee-6bf6-4683-a741-75833c96b28c	g.chr19:42798989_42798990insA	ENST00000572681.2	+	21	7259_7260	c.7191_7192insA	c.(7192-7194)gccfs	p.A2398fs	CIC_ENST00000575354.2_Frame_Shift_Ins_p.A1492fs|CIC_ENST00000160740.3_Frame_Shift_Ins_p.A1490fs			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	1492					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				AGGCCACAGCCGCCTTCCAGGC	0.574			"Mis, F, S"		oligodendroglioma								8	71	---	---	---	---						A	42798990	-	A	42798989	7	5	380	1	0	1	1	0	0	0	0	0	3446	639	23	0	4551	0	CIC	19	42798989	Frame_Shift_Ins	INS	-	TCGA-QH-A65Z-01A-11D-A29Q-08	1213	42798989	16329994	29	32693											
PPP1R13L	10848	broad.mit.edu	37	19	45895364	45895364	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A65Z-01A-11D-A29Q-08	TCGA-QH-A65Z-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a802c3-cb5f-48d0-b06f-8a526841caf2	d2f44aee-6bf6-4683-a741-75833c96b28c	g.chr19:45895364G>A	ENST00000418234.2	-	8	1667	c.1589C>T	c.(1588-1590)gCc>gTc	p.A530V	PPP1R13L_ENST00000360957.5_Missense_Mutation_p.A530V	NM_001142502.1	NP_001135974.1	Q8WUF5	IASPP_HUMAN	protein phosphatase 1, regulatory subunit 13 like	530	Pro-rich.				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	transcription corepressor activity|transcription factor binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0182)		CACAGCAGGGGCCTGCTCCAT	0.687													12	53					0	0	1	0	0	A	45895364	G	A	45895364	3	1	380	1	0	0	0	0	1	0	0	0	12407	1203	42	2	921	2	PPP1R13L	19	45895364	Missense_Mutation	SNP	G	TCGA-QH-A65Z-01A-11D-A29Q-08	3096375	45895364	13233619	30	32694											
PRR12	57479	broad.mit.edu	37	19	50100109	50100109	+	Silent	SNP	A	A	C			TCGA-QH-A65Z-01A-11D-A29Q-08	TCGA-QH-A65Z-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a802c3-cb5f-48d0-b06f-8a526841caf2	d2f44aee-6bf6-4683-a741-75833c96b28c	g.chr19:50100109A>C	ENST00000418929.2	+	4	2529	c.2517A>C	c.(2515-2517)ccA>ccC	p.P839P		NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN	proline rich 12	18							DNA binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		CTCCACCGCCACCCCCGCCTC	0.741													3	2					0	0	1	0	0	C	50100109	A	C	50100109	2	2	380	1	0	0	0	0	0	0	0	1	12636	146	6	5		5	PRR12	19	50100109	Silent	SNP	A	TCGA-QH-A65Z-01A-11D-A29Q-08	4204745	50100109	9028874	31	32695											
LAMA5	3911	broad.mit.edu	37	20	60888747	60888747	+	Silent	SNP	G	G	A			TCGA-QH-A65Z-01A-11D-A29Q-08	TCGA-QH-A65Z-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a802c3-cb5f-48d0-b06f-8a526841caf2	d2f44aee-6bf6-4683-a741-75833c96b28c	g.chr20:60888747G>A	ENST00000252999.3	-	63	8682	c.8616C>T	c.(8614-8616)gaC>gaT	p.D2872D		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	2872	Laminin G-like 1.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AGACGAAGTCGTCTGGCCGCA	0.662													67	83					0	0	1	0	0	A	60888747	G	A	60888747	2	1	380	1	0	0	0	0	0	0	0	1	8648	1136	40	1		1	LAMA5	20	60888747	Silent	SNP	G	TCGA-QH-A65Z-01A-11D-A29Q-08		60888747	2136773	32	32696											
ITSN1	6453	broad.mit.edu	37	21	35183494	35183494	+	Silent	SNP	G	G	A			TCGA-QH-A65Z-01A-11D-A29Q-08	TCGA-QH-A65Z-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a802c3-cb5f-48d0-b06f-8a526841caf2	d2f44aee-6bf6-4683-a741-75833c96b28c	g.chr21:35183494G>A	ENST00000381318.3	+	21	2823	c.2535G>A	c.(2533-2535)acG>acA	p.T845T	ITSN1_ENST00000399352.1_Silent_p.T840T|ITSN1_ENST00000399353.1_Silent_p.T803T|ITSN1_ENST00000399338.4_Silent_p.T840T|ITSN1_ENST00000399349.1_Silent_p.T840T|ITSN1_ENST00000399367.3_Silent_p.T840T|ITSN1_ENST00000437442.2_Silent_p.T840T|ITSN1_ENST00000379960.5_Silent_p.T840T|ITSN1_ENST00000381291.4_Silent_p.T845T|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000399355.2_Silent_p.T845T|ITSN1_ENST00000381285.4_Silent_p.T845T|ITSN1_ENST00000399326.3_Silent_p.T840T	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	845					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						AGCCCTCCACGACCCCTAATA	0.547													36	97					0	0	1	0	0	A	35183494	G	A	35183494	2	1	380	1	0	0	0	0	0	0	0	1	7970	1045	37	1		1	ITSN1	21	35183494	Silent	SNP	G	TCGA-QH-A65Z-01A-11D-A29Q-08		35183494	12946401	33	32697											
MOV10L1	54456	broad.mit.edu	37	22	50538030	50538030	+	Translation_Start_Site	SNP	A	A	T			TCGA-QH-A65Z-01A-11D-A29Q-08	TCGA-QH-A65Z-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a802c3-cb5f-48d0-b06f-8a526841caf2	d2f44aee-6bf6-4683-a741-75833c96b28c	g.chr22:50538030A>T	ENST00000395843.1	+	0	443				MOV10L1_ENST00000262794.5_Splice_Site_p.E147D|MOV10L1_ENST00000545383.1_Splice_Site_p.E147D|MOV10L1_ENST00000395858.3_Splice_Site_p.E147D|MOV10L1_ENST00000475190.1_3'UTR|MOV10L1_ENST00000540615.1_Splice_Site_p.E127D			Q9BXT6	M10L1_HUMAN	Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse)						germ cell development|multicellular organismal development|spermatogenesis		ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding			breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		GTGTGTGCGAAGGTATGCTCA	0.512													14	41					0	0	1	0	0	T	50538030	A	T	50538030	1	4	380	1	0	0	0	0	0	0	0	0	9768	86	3	5		5	MOV10L1	22	50538030	Translation_Start_Site	SNP	A	TCGA-QH-A65Z-01A-11D-A29Q-08		50538030	766536	34	32698											
XPNPEP2	7512	broad.mit.edu	37	X	128879232	128879232	+	Silent	SNP	A	A	T			TCGA-QH-A65Z-01A-11D-A29Q-08	TCGA-QH-A65Z-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a802c3-cb5f-48d0-b06f-8a526841caf2	d2f44aee-6bf6-4683-a741-75833c96b28c	g.chrX:128879232A>T	ENST00000371106.3	+	4	480	c.288A>T	c.(286-288)acA>acT	p.T96T	XPNPEP2_ENST00000371105.3_Silent_p.T96T	NM_003399.5	NP_003390.4	O43895	XPP2_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 2, membrane-bound	96					cellular process|proteolysis	anchored to membrane|plasma membrane	aminopeptidase activity|metal ion binding|metalloexopeptidase activity			endometrium(3)|kidney(3)|large_intestine(5)|liver(1)|lung(20)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	37						CAGGCTTTACAGGGTCTGCAG	0.488													3	30					0	0	1	0	0	T	128879232	A	T	128879232	2	4	380	1	0	0	0	0	0	0	0	1	17503	175	7	5		5	XPNPEP2	23	128879232	Silent	SNP	A	TCGA-QH-A65Z-01A-11D-A29Q-08		128879232	26391328	35	32699											
SLC45A1	50651	broad.mit.edu	37	1	8399632	8399632	+	Silent	SNP	C	C	A	rs140511753		TCGA-QH-A6CS-01A-11D-A31L-08	TCGA-QH-A6CS-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb6e8162-12a8-4f26-9d2e-46bbe8eac3f2	e7b41454-99a5-4bbc-9ac4-ca4940c19eeb	g.chr1:8399632C>A	ENST00000471889.1	+	8	2239	c.1854C>A	c.(1852-1854)acC>acA	p.T618T	SLC45A1_ENST00000377479.2_Silent_p.T652T|SLC45A1_ENST00000289877.8_Silent_p.T618T			Q9Y2W3	S45A1_HUMAN	solute carrier family 45, member 1	618					carbohydrate transport	integral to membrane	symporter activity			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(2)	33	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		GCCTGGGGACCGGGCTTGCCA	0.597													4	164					0.150653	0.150653	1	1	0	A	8399632	C	A	8399632	2	1	381	1	0	0	0	0	0	0	0	1	14695	639	23	5		5	SLC45A1	1	8399632	Silent	SNP	C	TCGA-QH-A6CS-01A-11D-A31L-08		8399632	240850989	1	32700											
LPPR5	163404	broad.mit.edu	37	1	99380375	99380375	+	Silent	SNP	T	T	C			TCGA-QH-A6CS-01A-11D-A31L-08	TCGA-QH-A6CS-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb6e8162-12a8-4f26-9d2e-46bbe8eac3f2	e7b41454-99a5-4bbc-9ac4-ca4940c19eeb	g.chr1:99380375T>C	ENST00000370188.3	-	5	1260	c.900A>G	c.(898-900)gtA>gtG	p.V300V	LPPR5_ENST00000263177.4_Silent_p.V300V	NM_001010861.2	NP_001010861.1	Q32ZL2	LPPR5_HUMAN		300						integral to membrane	hydrolase activity										AAGGACTTTCTACTCGAGGAA	0.353													6	86					0	0	1	0	0	C	99380375	T	C	99380375	2	2	381	1	0	0	0	0	0	0	0	1	8973	1509	53	3		3	LPPR5	1	99380375	Silent	SNP	T	TCGA-QH-A6CS-01A-11D-A31L-08	90980743	99380375	149870246	2	32701											
KIAA1715	80856	broad.mit.edu	37	2	176804298	176804298	+	Missense_Mutation	SNP	C	C	A			TCGA-QH-A6CS-01A-11D-A31L-08	TCGA-QH-A6CS-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb6e8162-12a8-4f26-9d2e-46bbe8eac3f2	e7b41454-99a5-4bbc-9ac4-ca4940c19eeb	g.chr2:176804298C>A	ENST00000272748.4	-	10	1041	c.794G>T	c.(793-795)gGt>gTt	p.G265V	KIAA1715_ENST00000535310.1_Missense_Mutation_p.G190V|KIAA1715_ENST00000544803.1_Missense_Mutation_p.G296V	NM_030650.1	NP_085153.1	Q9C0E8	LNP_HUMAN	KIAA1715	265						integral to membrane	protein binding			endometrium(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)	20			OV - Ovarian serous cystadenocarcinoma(117;0.0793)			TGGACCATCACCAACCAAATA	0.378													4	27					0.00909568	0.0093289	1	1	0	A	176804298	C	A	176804298	3	1	381	1	0	0	0	0	1	0	0	0	8296	507	18	5	508	5	KIAA1715	2	176804298	Missense_Mutation	SNP	C	TCGA-QH-A6CS-01A-11D-A31L-08		176804298	66395075	3	32702											
TTN	7273	broad.mit.edu	37	2	179477176	179477176	+	Silent	SNP	G	G	A			TCGA-QH-A6CS-01A-11D-A31L-08	TCGA-QH-A6CS-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb6e8162-12a8-4f26-9d2e-46bbe8eac3f2	e7b41454-99a5-4bbc-9ac4-ca4940c19eeb	g.chr2:179477176G>A	ENST00000589042.1	-	266	50300	c.50076C>T	c.(50074-50076)gaC>gaT	p.D16692D	TTN_ENST00000342992.6_Silent_p.D14124D|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Silent_p.D7819D|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000591111.1_Silent_p.D15051D|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Silent_p.D7752D|TTN_ENST00000460472.2_Silent_p.D7627D|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589234.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	15051	Fibronectin type-III 21.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCGCCTGACGTCTCTCTTTT	0.458													3	28					0	0	1	0	0	A	179477176	G	A	179477176	2	1	381	1	0	0	0	0	0	0	0	1	16797	1136	40	1		1	TTN	2	179477176	Silent	SNP	G	TCGA-QH-A6CS-01A-11D-A31L-08	2672878	179477176	63722197	4	32703											
APBB2	323	broad.mit.edu	37	4	40818255	40818255	+	Missense_Mutation	SNP	C	C	A			TCGA-QH-A6CS-01A-11D-A31L-08	TCGA-QH-A6CS-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb6e8162-12a8-4f26-9d2e-46bbe8eac3f2	e7b41454-99a5-4bbc-9ac4-ca4940c19eeb	g.chr4:40818255C>A	ENST00000295974.8	-	18	2760	c.2131G>T	c.(2131-2133)Gta>Tta	p.V711L	APBB2_ENST00000513140.1_Missense_Mutation_p.V689L|APBB2_ENST00000504305.1_Missense_Mutation_p.V163L|RP11-632F7.3_ENST00000513127.1_RNA|APBB2_ENST00000506352.1_Missense_Mutation_p.V690L|APBB2_ENST00000508593.1_Missense_Mutation_p.V712L|APBB2_ENST00000543538.1_Missense_Mutation_p.V163L|APBB2_ENST00000502841.1_Missense_Mutation_p.V163L	NM_001166050.1|NM_004307.1	NP_001159522.1|NP_004298.1	Q92870	APBB2_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 2	711	PID 2.				cell cycle arrest|intracellular signal transduction|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|regulation of transcription, DNA-dependent	growth cone|lamellipodium|membrane|nucleus|synapse	beta-amyloid binding|transcription factor binding			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|skin(2)|urinary_tract(1)	34						GGCCTGGCTACCAAGCACTTC	0.403													18	98					5.03518e-11	5.7545e-11	1	1	0	A	40818255	C	A	40818255	3	1	381	1	0	0	0	0	1	0	0	0	757	507	18	5	149	5	APBB2	4	40818255	Missense_Mutation	SNP	C	TCGA-QH-A6CS-01A-11D-A31L-08		40818255	150336021	5	32704											
FBXW7	55294	broad.mit.edu	37	4	153244092	153244092	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A6CS-01A-11D-A31L-08	TCGA-QH-A6CS-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb6e8162-12a8-4f26-9d2e-46bbe8eac3f2	e7b41454-99a5-4bbc-9ac4-ca4940c19eeb	g.chr4:153244092G>A	ENST00000281708.4	-	12	3294	c.2065C>T	c.(2065-2067)Cgg>Tgg	p.R689W	FBXW7_ENST00000603841.1_Missense_Mutation_p.R689W|FBXW7_ENST00000263981.5_Missense_Mutation_p.R609W|FBXW7_ENST00000393956.3_Missense_Mutation_p.R513W|FBXW7_ENST00000296555.5_Missense_Mutation_p.R571W|FBXW7_ENST00000603548.1_Missense_Mutation_p.R689W	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	689					interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleoplasm|SCF ubiquitin ligase complex	protein binding	p.R689W(10)|p.R450W(3)|p.R609W(3)|p.R571W(1)|p.?(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				GTCCCATTCCGACTCCCAACT	0.478			"Mis, N, D, F"		"colorectal, endometrial, T-ALL"								22	121					0	0	1	0	0	A	153244092	G	A	153244092	3	1	381	1	0	0	0	0	1	0	0	0	5802	1057	37	1	62	1	FBXW7	4	153244092	Missense_Mutation	SNP	G	TCGA-QH-A6CS-01A-11D-A31L-08	112425837	153244092	37910184	6	32705											
SPATA4	132851	broad.mit.edu	37	4	177113947	177113947	+	Missense_Mutation	SNP	C	C	A			TCGA-QH-A6CS-01A-11D-A31L-08	TCGA-QH-A6CS-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb6e8162-12a8-4f26-9d2e-46bbe8eac3f2	e7b41454-99a5-4bbc-9ac4-ca4940c19eeb	g.chr4:177113947C>A	ENST00000280191.2	-	4	627	c.519G>T	c.(517-519)caG>caT	p.Q173H	SPATA4_ENST00000515234.1_5'UTR	NM_144644.2	NP_653245.2	Q8NEY3	SPAT4_HUMAN	spermatogenesis associated 4	173					apoptosis|spermatogenesis					NS(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)	22		Breast(14;0.0011)|Prostate(90;0.0129)|Melanoma(52;0.0133)|Renal(120;0.0376)|all_hematologic(60;0.124)		all cancers(43;2.9e-20)|Epithelial(43;1.99e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.58e-09)|GBM - Glioblastoma multiforme(59;0.000162)|STAD - Stomach adenocarcinoma(60;0.000543)|LUSC - Lung squamous cell carcinoma(193;0.096)		GTAAACGCATCTGGTAGCTAT	0.353													9	41					5.4927e-09	5.93806e-09	1	1	0	A	177113947	C	A	177113947	3	1	381	1	0	0	0	0	1	0	0	0	15066	912	32	4	410	4	SPATA4	4	177113947	Missense_Mutation	SNP	C	TCGA-QH-A6CS-01A-11D-A31L-08	23869855	177113947	14040329	7	32706											
PIK3R1	5295	broad.mit.edu	37	5	67591287	67591287	+	Silent	SNP	C	C	T			TCGA-QH-A6CS-01A-11D-A31L-08	TCGA-QH-A6CS-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb6e8162-12a8-4f26-9d2e-46bbe8eac3f2	e7b41454-99a5-4bbc-9ac4-ca4940c19eeb	g.chr5:67591287C>T	ENST00000521381.1	+	14	2401	c.1785C>T	c.(1783-1785)aaC>aaT	p.N595N	PIK3R1_ENST00000521657.1_Silent_p.N595N|PIK3R1_ENST00000336483.5_Silent_p.N325N|PIK3R1_ENST00000274335.5_Silent_p.N595N|PIK3R1_ENST00000320694.8_Silent_p.N295N|PIK3R1_ENST00000396611.1_Silent_p.N595N|PIK3R1_ENST00000523872.1_Silent_p.N232N	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	595					epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.M582_D605>I(4)|p.Y580fs*1(1)|p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	AGAAGTTGAACGAGTGGTTGG	0.368			"Mis, F, O"		"gliobastoma, ovarian, colorectal"					TCGA GBM(4;<1E-08)			5	71					0	0	1	0	0	T	67591287	C	T	67591287	2	4	381	1	0	0	0	0	0	0	0	1	11966	535	19	1		1	PIK3R1	5	67591287	Silent	SNP	C	TCGA-QH-A6CS-01A-11D-A31L-08		67591287	113323973	8	32707											
DHFR	1719	broad.mit.edu	37	5	79945214	79945214	+	Missense_Mutation	SNP	T	T	C			TCGA-QH-A6CS-01A-11D-A31L-08	TCGA-QH-A6CS-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb6e8162-12a8-4f26-9d2e-46bbe8eac3f2	e7b41454-99a5-4bbc-9ac4-ca4940c19eeb	g.chr5:79945214T>C	ENST00000439211.2	-	3	729	c.236A>G	c.(235-237)gAa>gGa	p.E79G	DHFR_ENST00000504396.1_Missense_Mutation_p.E27G|DHFR_ENST00000505337.1_Missense_Mutation_p.E79G|DHFR_ENST00000511032.1_Missense_Mutation_p.E79G|DHFR_ENST00000513048.1_5'UTR	NM_000791.3	NP_000782.1	P00374	DYR_HUMAN	dihydrofolate reductase	79	DHFR.				folic acid metabolic process|glycine biosynthetic process|nucleotide biosynthetic process|one-carbon metabolic process|regulation of transcription involved in G1/S phase of mitotic cell cycle|response to methotrexate|tetrahydrofolate metabolic process	cytosol	dihydrofolate reductase activity|drug binding|folate reductase activity|NADP binding			kidney(1)|large_intestine(1)	2		Lung NSC(167;0.00475)|all_lung(232;0.00502)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;2.69e-46)|Epithelial(54;7.49e-41)|all cancers(79;1.54e-35)	Dapsone(DB00250)|Dimethyl sulfoxide(DB01093)|Lamotrigine(DB00555)|Methotrexate(DB00563)|NADH(DB00157)|Pemetrexed(DB00642)|Proguanil(DB01131)|Pyrimethamine(DB00205)|Trimethoprim(DB00440)|Trimetrexate(DB01157)	TTACTTGAGTTCTCTGCTGAG	0.348													4	27					0	0	1	0	0	C	79945214	T	C	79945214	3	2	381	1	0	0	0	0	1	0	0	0	4509	1783	62	3	343	3	DHFR	5	79945214	Missense_Mutation	SNP	T	TCGA-QH-A6CS-01A-11D-A31L-08	12353927	79945214	100970046	9	32708											
PCDHA7	56141	broad.mit.edu	37	5	140215321	140215321	+	Silent	SNP	C	C	T			TCGA-QH-A6CS-01A-11D-A31L-08	TCGA-QH-A6CS-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb6e8162-12a8-4f26-9d2e-46bbe8eac3f2	e7b41454-99a5-4bbc-9ac4-ca4940c19eeb	g.chr5:140215321C>T	ENST00000525929.1	+	1	1353	c.1353C>T	c.(1351-1353)aaC>aaT	p.N451N	PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA7_ENST00000378125.3_Silent_p.N451N|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018910.2	NP_061733.1														NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGAACGACAACGCCCCGGCGT	0.677													25	147					0	0	1	0	0	T	140215321	C	T	140215321	2	4	381	1	0	0	0	0	0	0	0	1	11576	535	19	1		1	PCDHA7	5	140215321	Silent	SNP	C	TCGA-QH-A6CS-01A-11D-A31L-08	60270107	140215321	40699939	10	32709											
KCNIP1	30820	broad.mit.edu	37	5	170159832	170159832	+	Missense_Mutation	SNP	A	A	G			TCGA-QH-A6CS-01A-11D-A31L-08	TCGA-QH-A6CS-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb6e8162-12a8-4f26-9d2e-46bbe8eac3f2	e7b41454-99a5-4bbc-9ac4-ca4940c19eeb	g.chr5:170159832A>G	ENST00000328939.4	+	6	1001	c.464A>G	c.(463-465)tAt>tGt	p.Y155C	KCNIP1_ENST00000390656.4_Missense_Mutation_p.Y155C|KCNIP1_ENST00000520740.1_Missense_Mutation_p.Y127C|KCNIP1_ENST00000411494.1_Missense_Mutation_p.Y166C|KCNIP1_ENST00000377360.4_Missense_Mutation_p.Y164C|KCNIP1_ENST00000434108.1_Missense_Mutation_p.Y180C	NM_001034837.1|NM_014592.2	NP_001030009.1|NP_055407.1	Q9NZI2	KCIP1_HUMAN	Kv channel interacting protein 1	166	EF-hand 3.				detection of calcium ion|signal transduction|synaptic transmission	plasma membrane	potassium channel activity|voltage-gated ion channel activity			autonomic_ganglia(1)|large_intestine(7)|lung(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	18	Renal(175;0.000159)|Lung NSC(126;0.0191)|all_lung(126;0.0297)	Medulloblastoma(196;0.0109)|all_neural(177;0.0177)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AAAGCCATCTATGACATGATG	0.488													12	90					0	0	1	0	0	G	170159832	A	G	170159832	3	3	381	1	0	0	0	0	1	0	0	0	8083	449	16	3	615	3	KCNIP1	5	170159832	Missense_Mutation	SNP	A	TCGA-QH-A6CS-01A-11D-A31L-08	29944511	170159832	10755428	11	32710											
LAMA2	3908	broad.mit.edu	37	6	129785592	129785592	+	Missense_Mutation	SNP	G	G	T			TCGA-QH-A6CS-01A-11D-A31L-08	TCGA-QH-A6CS-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb6e8162-12a8-4f26-9d2e-46bbe8eac3f2	e7b41454-99a5-4bbc-9ac4-ca4940c19eeb	g.chr6:129785592G>T	ENST00000421865.2	+	50	7199	c.7150G>T	c.(7150-7152)Gac>Tac	p.D2384Y		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	2384	Laminin G-like 2.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		TGCCACACGAGACCTGGTAAA	0.408													11	122					0.00244969	0.00257863	1	1	0	T	129785592	G	T	129785592	3	4	381	1	0	0	0	0	1	0	0	0	8645	942	33	4	7348	4	LAMA2	6	129785592	Missense_Mutation	SNP	G	TCGA-QH-A6CS-01A-11D-A31L-08		129785592	41329475	12	32711											
EIF2AK1	27102	broad.mit.edu	37	7	6094277	6094277	+	Missense_Mutation	SNP	G	G	T			TCGA-QH-A6CS-01A-11D-A31L-08	TCGA-QH-A6CS-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb6e8162-12a8-4f26-9d2e-46bbe8eac3f2	e7b41454-99a5-4bbc-9ac4-ca4940c19eeb	g.chr7:6094277G>T	ENST00000199389.6	-	2	323	c.177C>A	c.(175-177)ttC>ttA	p.F59L	EIF2AK1_ENST00000536084.1_5'UTR	NM_001134335.1|NM_014413.3	NP_001127807.1|NP_055228.2	Q9BQI3	E2AK1_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 1	59					negative regulation of hemoglobin biosynthetic process|negative regulation of translational initiation by iron|protein autophosphorylation|response to external stimulus|response to stress	cytoplasm	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|heme binding|protein homodimerization activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	27		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.106)|OV - Ovarian serous cystadenocarcinoma(56;5.22e-14)		CTGCAAAAGGGAAGGTTGGCT	0.398													22	119					5.35356e-11	5.9484e-11	1	1	0	T	6094277	G	T	6094277	3	4	381	1	0	0	0	0	1	0	0	0	5022	1165	41	5	1771	5	EIF2AK1	7	6094277	Missense_Mutation	SNP	G	TCGA-QH-A6CS-01A-11D-A31L-08		6094277	153044386	13	32712											
AZGP1	563	broad.mit.edu	37	7	99565785	99565785	+	Silent	SNP	G	G	A			TCGA-QH-A6CS-01A-11D-A31L-08	TCGA-QH-A6CS-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb6e8162-12a8-4f26-9d2e-46bbe8eac3f2	e7b41454-99a5-4bbc-9ac4-ca4940c19eeb	g.chr7:99565785G>A	ENST00000411734.1	-	3	602	c.597C>T	c.(595-597)gaC>gaT	p.D199D	AZGP1_ENST00000292401.4_Silent_p.D202D			P25311	ZA2G_HUMAN	alpha-2-glycoprotein 1, zinc-binding	202					antigen processing and presentation|cell adhesion|immune response|lipid catabolic process|negative regulation of cell proliferation	extracellular region|MHC class I protein complex	fatty acid binding|protein transmembrane transporter activity|ribonuclease activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|stomach(1)	16	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)					TACCTTGCCGGTCCAGGATAT	0.537													12	80					0	0	1	0	0	A	99565785	G	A	99565785	2	1	381	1	0	0	0	0	0	0	0	1	1237	1252	44	2		2	AZGP1	7	99565785	Silent	SNP	G	TCGA-QH-A6CS-01A-11D-A31L-08	93471508	99565785	59572878	14	32713											
MATN2	4147	broad.mit.edu	37	8	98943235	98943235	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A6CS-01A-11D-A31L-08	TCGA-QH-A6CS-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb6e8162-12a8-4f26-9d2e-46bbe8eac3f2	e7b41454-99a5-4bbc-9ac4-ca4940c19eeb	g.chr8:98943235G>A	ENST00000254898.5	+	3	428	c.197G>A	c.(196-198)cGc>cAc	p.R66H	MATN2_ENST00000524308.1_Missense_Mutation_p.R66H|MATN2_ENST00000521689.1_Missense_Mutation_p.R66H|MATN2_ENST00000522025.2_Intron|MATN2_ENST00000520016.1_Missense_Mutation_p.R66H	NM_002380.3|NM_030583.2	NP_002371.3|NP_085072.2	O00339	MATN2_HUMAN	matrilin 2	66	VWFA 1.					proteinaceous extracellular matrix	calcium ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(2)|urinary_tract(1)	31	Breast(36;1.43e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.244)			GACAGCTCTCGCAGTGTCAAC	0.507													3	35					0	0	1	0	0	A	98943235	G	A	98943235	3	1	381	1	0	0	0	0	1	0	0	0	9384	1087	38	1	203	1	MATN2	8	98943235	Missense_Mutation	SNP	G	TCGA-QH-A6CS-01A-11D-A31L-08		98943235	47420787	15	32714											
UTP23	84294	broad.mit.edu	37	8	117783984	117783984	+	Missense_Mutation	SNP	A	A	G			TCGA-QH-A6CS-01A-11D-A31L-08	TCGA-QH-A6CS-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb6e8162-12a8-4f26-9d2e-46bbe8eac3f2	e7b41454-99a5-4bbc-9ac4-ca4940c19eeb	g.chr8:117783984A>G	ENST00000309822.2	+	3	754	c.653A>G	c.(652-654)cAa>cGa	p.Q218R	UTP23_ENST00000357148.3_Intron|UTP23_ENST00000517820.1_Intron|UTP23_ENST00000520733.1_Intron	NM_032334.2	NP_115710.2	Q9BRU9	UTP23_HUMAN	UTP23, small subunit (SSU) processome component, homolog (yeast)	218					rRNA processing	nucleolus				breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	12						CCGGACACACAATCATCTGCT	0.368													8	66					0	0	1	0	0	G	117783984	A	G	117783984	3	3	381	1	0	0	0	0	1	0	0	0	17160	130	5	3	663	3	UTP23	8	117783984	Missense_Mutation	SNP	A	TCGA-QH-A6CS-01A-11D-A31L-08	18840749	117783984	28580038	16	32715											
PTEN	5728	broad.mit.edu	37	10	89720803	89720804	+	Frame_Shift_Ins	INS	-	-	A	rs146650273		TCGA-QH-A6CS-01A-11D-A31L-08	TCGA-QH-A6CS-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb6e8162-12a8-4f26-9d2e-46bbe8eac3f2	e7b41454-99a5-4bbc-9ac4-ca4940c19eeb	g.chr10:89720803_89720804insA	ENST00000371953.3	+	8	2311_2312	c.954_955insA	c.(955-957)actfs	p.T319fs	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	319	C2 tensin-type.		Missing (in glioma; reduced tumor suppressor activity; fails to inactivate AKT/PKB).		activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.L318fs*2(27)|p.T319fs*1(24)|p.T319fs*6(6)|p.R55fs*1(5)|p.V317fs*3(4)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.T319del(2)|p.V317fs*6(2)|p.T319_K332del(1)|p.G165_*404del(1)|p.L318fs*3(1)|p.L316fs*1(1)|p.T319fs*4(1)|p.W274_F341del(1)|p.V317_K322del(1)|p.T318fs*2(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		ATCTAGTACTTACTTTAACAAA	0.327		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			23	69	---	---	---	---						A	89720804	-	A	89720803	7	5	381	1	0	1	1	0	0	0	0	0	12787	1741	61	0	984	0	PTEN	10	89720803	Frame_Shift_Ins	INS	-	TCGA-QH-A6CS-01A-11D-A31L-08		89720803	45813944	17	32716											
PNLIPRP2	5408	broad.mit.edu	37	10	118396277	118396277	+	RNA	DEL	G	G	-	rs148140777	by1000genomes	TCGA-QH-A6CS-01A-11D-A31L-08	TCGA-QH-A6CS-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb6e8162-12a8-4f26-9d2e-46bbe8eac3f2	e7b41454-99a5-4bbc-9ac4-ca4940c19eeb	g.chr10:118396277delG	ENST00000537242.1	+	0	962				PNLIPRP2_ENST00000433618.4_RNA|PNLIPRP2_ENST00000298771.7_RNA	NM_005396.4	NP_005387.2	P54317	LIPR2_HUMAN	pancreatic lipase-related protein 2						galactolipid catabolic process|lipid digestion|phospholipid catabolic process|triglyceride metabolic process	extracellular space	acylglycerol lipase activity|calcium ion binding|galactolipase activity|phospholipase activity|triglyceride lipase activity			endometrium(1)|large_intestine(1)|lung(11)|prostate(3)	16				all cancers(201;0.015)		GACAAATTATGGTTTTTTTTT	0.423													4	2	---	---	---	---						-	118396277	G	-	118396277	6	5	381	0	1	1	0	1	0	0	0	0	12199	1363	47	0		0	PNLIPRP2	10	118396277	RNA	DEL	G	TCGA-QH-A6CS-01A-11D-A31L-08	28675474	118396277	17138470	18	32717											
PAX6	5080	broad.mit.edu	37	11	31815030	31815030	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A6CS-01A-11D-A31L-08	TCGA-QH-A6CS-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb6e8162-12a8-4f26-9d2e-46bbe8eac3f2	e7b41454-99a5-4bbc-9ac4-ca4940c19eeb	g.chr11:31815030G>A	ENST00000419022.1	-	12	1498	c.1030C>T	c.(1030-1032)Ccg>Tcg	p.P344S	PAX6_ENST00000241001.8_Missense_Mutation_p.P330S|PAX6_ENST00000379123.5_Missense_Mutation_p.P330S|PAX6_ENST00000379115.4_Missense_Mutation_p.P344S|PAX6_ENST00000379129.2_Missense_Mutation_p.P344S|PAX6_ENST00000379107.2_Missense_Mutation_p.P344S|PAX6_ENST00000379111.2_Missense_Mutation_p.P330S|PAX6_ENST00000379132.3_Missense_Mutation_p.P330S	NM_001127612.1|NM_001258462.1|NM_001258463.1	NP_001121084.1|NP_001245391.1|NP_001245392.1	P26367	PAX6_HUMAN	paired box 6	330	Pro/Ser/Thr-rich.				blood vessel development|central nervous system development|cornea development in camera-type eye|glucose homeostasis|iris morphogenesis|negative regulation of neurogenesis|neuron fate commitment|pancreatic A cell development|positive regulation of transcription, DNA-dependent|response to wounding|visual perception	cytoplasm|nuclear chromatin	R-SMAD binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|ubiquitin-protein ligase activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)	35	Lung SC(675;0.225)					GGCATAGGCGGCAGAGCGCTG	0.557									Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation				4	171					0	0	1	0	0	A	31815030	G	A	31815030	3	1	381	1	0	0	0	0	1	0	0	0	11530	1203	42	2	292	2	PAX6	11	31815030	Missense_Mutation	SNP	G	TCGA-QH-A6CS-01A-11D-A31L-08		31815030	103191486	19	32718											
CCDC53	51019	broad.mit.edu	37	12	102433745	102433745	+	Silent	SNP	T	T	C			TCGA-QH-A6CS-01A-11D-A31L-08	TCGA-QH-A6CS-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb6e8162-12a8-4f26-9d2e-46bbe8eac3f2	e7b41454-99a5-4bbc-9ac4-ca4940c19eeb	g.chr12:102433745T>C	ENST00000240079.6	-	5	497	c.336A>G	c.(334-336)acA>acG	p.T112T	CCDC53_ENST00000539515.1_5'UTR|CCDC53_ENST00000545679.1_Silent_p.T111T	NM_016053.2	NP_057137.1	Q9Y3C0	CCD53_HUMAN	coiled-coil domain containing 53	112						WASH complex	protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4						CAGAGTCTTGTGTACTGTTCT	0.358													12	67					0	0	1	0	0	C	102433745	T	C	102433745	2	2	381	1	0	0	0	0	0	0	0	1	2843	1683	59	3		3	CCDC53	12	102433745	Silent	SNP	T	TCGA-QH-A6CS-01A-11D-A31L-08		102433745	31418150	20	32719											
HERC2	8924	broad.mit.edu	37	15	28478677	28478677	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A6CS-01A-11D-A31L-08	TCGA-QH-A6CS-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb6e8162-12a8-4f26-9d2e-46bbe8eac3f2	e7b41454-99a5-4bbc-9ac4-ca4940c19eeb	g.chr15:28478677C>T	ENST00000261609.7	-	29	4490	c.4382G>A	c.(4381-4383)gGt>gAt	p.G1461D		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	1461					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		ACCAAGTGCACCTGCATGAAC	0.423													15	79					0	0	1	0	0	T	28478677	C	T	28478677	3	4	381	1	0	0	0	0	1	0	0	0	7099	507	18	2	10382	2	HERC2	15	28478677	Missense_Mutation	SNP	C	TCGA-QH-A6CS-01A-11D-A31L-08		28478677	74052715	21	32720											
NF1	4763	broad.mit.edu	37	17	29652974	29652974	+	Frame_Shift_Del	DEL	T	T	-			TCGA-QH-A6CS-01A-11D-A31L-08	TCGA-QH-A6CS-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb6e8162-12a8-4f26-9d2e-46bbe8eac3f2	e7b41454-99a5-4bbc-9ac4-ca4940c19eeb	g.chr17:29652974delT	ENST00000358273.4	+	37	5355	c.4972delT	c.(4972-4974)tttfs	p.F1658fs	NF1_ENST00000356175.3_Frame_Shift_Del_p.F1637fs|NF1_ENST00000581113.2_3'UTR	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1658	CRAL-TRIO.				actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(3)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TAAAACAGACTTTCTCTCTAA	0.418			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			22	92	---	---	---	---						-	29652974	T	-	29652974	7	5	381	1	0	1	0	1	0	0	0	0	10403	1609	56	0	5179	0	NF1	17	29652974	Frame_Shift_Del	DEL	T	TCGA-QH-A6CS-01A-11D-A31L-08		29652974	51542236	22	32721											
GALR2	8811	broad.mit.edu	37	17	74071243	74071243	+	Silent	SNP	C	C	T			TCGA-QH-A6CS-01A-11D-A31L-08	TCGA-QH-A6CS-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb6e8162-12a8-4f26-9d2e-46bbe8eac3f2	e7b41454-99a5-4bbc-9ac4-ca4940c19eeb	g.chr17:74071243C>T	ENST00000329003.3	+	1	369	c.279C>T	c.(277-279)ttC>ttT	p.F93F		NM_003857.2	NP_003848.1	O43603	GALR2_HUMAN	galanin receptor 2	93					digestion|elevation of cytosolic calcium ion concentration|feeding behavior|learning or memory|muscle contraction	integral to membrane|plasma membrane	galanin receptor activity			cervix(1)|lung(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						GCTGGGTGTTCGGCTCGCTGC	0.632													11	101					0	0	1	0	0	T	74071243	C	T	74071243	2	4	381	1	0	0	0	0	0	0	0	1	6268	883	31	1		1	GALR2	17	74071243	Silent	SNP	C	TCGA-QH-A6CS-01A-11D-A31L-08	44418269	74071243	7123967	23	32722											
SHANK1	50944	broad.mit.edu	37	19	51190015	51190015	+	Missense_Mutation	SNP	T	T	C			TCGA-QH-A6CS-01A-11D-A31L-08	TCGA-QH-A6CS-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb6e8162-12a8-4f26-9d2e-46bbe8eac3f2	e7b41454-99a5-4bbc-9ac4-ca4940c19eeb	g.chr19:51190015T>C	ENST00000293441.1	-	19	2462	c.2444A>G	c.(2443-2445)tAt>tGt	p.Y815C	SHANK1_ENST00000391813.1_Missense_Mutation_p.Y202C|SHANK1_ENST00000359082.3_Missense_Mutation_p.Y806C|SHANK1_ENST00000391814.1_Missense_Mutation_p.Y823C	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	815					cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		AGCCATCTGATACACGGTCCG	0.687													4	55					0	0	1	0	0	C	51190015	T	C	51190015	3	2	381	1	0	0	0	0	1	0	0	0	14319	1406	49	3	4061	3	SHANK1	19	51190015	Missense_Mutation	SNP	T	TCGA-QH-A6CS-01A-11D-A31L-08		51190015	7938968	24	32723											
BCAS4	55653	broad.mit.edu	37	20	49446838	49446838	+	Missense_Mutation	SNP	T	T	A			TCGA-QH-A6CS-01A-11D-A31L-08	TCGA-QH-A6CS-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb6e8162-12a8-4f26-9d2e-46bbe8eac3f2	e7b41454-99a5-4bbc-9ac4-ca4940c19eeb	g.chr20:49446838T>A	ENST00000358791.5	+	3	375	c.275T>A	c.(274-276)aTc>aAc	p.I92N	BCAS4_ENST00000485049.1_3'UTR|BCAS4_ENST00000262591.5_Missense_Mutation_p.I92N|BCAS4_ENST00000609336.1_Missense_Mutation_p.I62N|BCAS4_ENST00000371608.2_Missense_Mutation_p.I92N	NM_017843.3	NP_060313.3	Q8TDM0	BCAS4_HUMAN	breast carcinoma amplified sequence 4	92						cytoplasm				large_intestine(2)|lung(2)|pancreas(1)|upper_aerodigestive_tract(1)	6						ACTTCACAGATCCTGGAGGAA	0.532													10	71					0	0	1	0	0	A	49446838	T	A	49446838	3	1	381	1	0	0	0	0	1	0	0	0	1351	1435	50	4	285	4	BCAS4	20	49446838	Missense_Mutation	SNP	T	TCGA-QH-A6CS-01A-11D-A31L-08		49446838	13578682	25	32724											
ZFP64	55734	broad.mit.edu	37	20	50776664	50776664	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A6CS-01A-11D-A31L-08	TCGA-QH-A6CS-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb6e8162-12a8-4f26-9d2e-46bbe8eac3f2	e7b41454-99a5-4bbc-9ac4-ca4940c19eeb	g.chr20:50776664G>A	ENST00000216923.4	-	5	1110	c.761C>T	c.(760-762)aCg>aTg	p.T254M	ZFP64_ENST00000361387.2_Missense_Mutation_p.T254M|ZFP64_ENST00000477786.1_5'UTR|ZFP64_ENST00000371518.2_Missense_Mutation_p.T254M|ZFP64_ENST00000371515.4_Missense_Mutation_p.T252M|ZFP64_ENST00000346617.4_Missense_Mutation_p.T200M	NM_018197.2|NM_199426.1	NP_060667.2|NP_955458.1	Q9NPA5	ZF64A_HUMAN	ZFP64 zinc finger protein	254					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						GGACTCACCCGTGTGGGATCG	0.532													30	146					0	0	1	0	0	A	50776664	G	A	50776664	3	1	381	1	0	0	0	0	1	0	0	0	17710	1145	40	1	2483	1	ZFP64	20	50776664	Missense_Mutation	SNP	G	TCGA-QH-A6CS-01A-11D-A31L-08	1329826	50776664	12248856	26	32725											
PDE9A	5152	broad.mit.edu	37	21	44190886	44190886	+	Missense_Mutation	SNP	G	G	A	rs150892798	byFrequency	TCGA-QH-A6CS-01A-11D-A31L-08	TCGA-QH-A6CS-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb6e8162-12a8-4f26-9d2e-46bbe8eac3f2	e7b41454-99a5-4bbc-9ac4-ca4940c19eeb	g.chr21:44190886G>A	ENST00000291539.6	+	18	1724	c.1664G>A	c.(1663-1665)cGg>cAg	p.R555Q	PDE9A_ENST00000398229.3_Missense_Mutation_p.R421Q|PDE9A_ENST00000335512.4_Missense_Mutation_p.R495Q|PDE9A_ENST00000349112.3_Missense_Mutation_p.R427Q|PDE9A_ENST00000380328.2_Missense_Mutation_p.R502Q|PDE9A_ENST00000398225.3_Missense_Mutation_p.R514Q|PDE9A_ENST00000539837.1_Missense_Mutation_p.R427Q|PDE9A_ENST00000398232.3_Missense_Mutation_p.R488Q|PDE9A_ENST00000470987.1_3'UTR|PDE9A_ENST00000335440.6_Missense_Mutation_p.R453Q|PDE9A_ENST00000398234.3_Missense_Mutation_p.R454Q|PDE9A_ENST00000398236.3_Missense_Mutation_p.R469Q|PDE9A_ENST00000328862.6_Missense_Mutation_p.R529Q|PDE9A_ENST00000398227.3_Missense_Mutation_p.R395Q|PDE9A_ENST00000398224.3_Missense_Mutation_p.R428Q	NM_002606.2	NP_002597.1	O76083	PDE9A_HUMAN	phosphodiesterase 9A	555					platelet activation|signal transduction	cytosol|endoplasmic reticulum|Golgi apparatus|perinuclear region of cytoplasm|ruffle membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding|protein binding			breast(1)|endometrium(4)|large_intestine(6)|lung(8)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27						GAGCTGAAGCGGATAGATGAC	0.557													3	70					0	0	1	0	0	A	44190886	G	A	44190886	3	1	381	1	0	0	0	0	1	0	0	0	11702	1116	39	1	1814	1	PDE9A	21	44190886	Missense_Mutation	SNP	G	TCGA-QH-A6CS-01A-11D-A31L-08		44190886	3939009	27	32726											
FAM47C	442444	broad.mit.edu	37	X	37028425	37028425	+	Missense_Mutation	SNP	A	A	G	rs145580328	byFrequency	TCGA-QH-A6CS-01A-11D-A31L-08	TCGA-QH-A6CS-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb6e8162-12a8-4f26-9d2e-46bbe8eac3f2	e7b41454-99a5-4bbc-9ac4-ca4940c19eeb	g.chrX:37028425A>G	ENST00000358047.3	+	1	1994	c.1942A>G	c.(1942-1944)Aat>Gat	p.N648D		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	648								p.N648D(7)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						GGAGCCTCCCAATACTGGAGT	0.642													4	86					0	0	1	0	0	G	37028425	A	G	37028425	3	3	381	1	0	0	0	0	1	0	0	0	5607	130	5	3	1944	3	FAM47C	23	37028425	Missense_Mutation	SNP	A	TCGA-QH-A6CS-01A-11D-A31L-08		37028425	118242135	28	32727											
F8	2157	broad.mit.edu	37	X	154130442	154130442	+	Splice_Site	SNP	C	C	T			TCGA-QH-A6CS-01A-11D-A31L-08	TCGA-QH-A6CS-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb6e8162-12a8-4f26-9d2e-46bbe8eac3f2	e7b41454-99a5-4bbc-9ac4-ca4940c19eeb	g.chrX:154130442C>T	ENST00000360256.4	-	19	6199	c.5999G>A	c.(5998-6000)gGt>gAt	p.G2000D		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	2000	F5/8 type A 3.|Plastocyanin-like 6.		G -> A (in HEMA; moderate-severe).		acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	CTCAAAAACACCTTATAAAAA	0.378													17	25					0	0	1	0	0	T	154130442	C	T	154130442	5	4	381	1	0	0	0	0	0	0	1	0	5378	521	18	2	1116	2	F8	23	154130442	Splice_Site	SNP	C	TCGA-QH-A6CS-01A-11D-A31L-08	117102017	154130442	1140118	29	32728											
LRRC41	10489	broad.mit.edu	37	1	46752046	46752046	+	Silent	SNP	G	G	A			TCGA-QH-A6CU-01A-11D-A31L-08	TCGA-QH-A6CU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cc38bc2-1fc1-491a-af2b-511942996b69	94a2fad7-5e68-405f-9f04-e5c134dac8e0	g.chr1:46752046G>A	ENST00000343304.6	-	4	768	c.483C>T	c.(481-483)tcC>tcT	p.S161S	LRRC41_ENST00000472710.1_5'UTR	NM_006369.4	NP_006360.3	Q15345	LRC41_HUMAN	leucine rich repeat containing 41	161										breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					GGACATGGCGGGAGCTGTGCA	0.567													3	45					0	0	1	0	0	A	46752046	G	A	46752046	2	1	382	1	0	0	0	0	0	0	0	1	9044	1219	43	2		2	LRRC41	1	46752046	Silent	SNP	G	TCGA-QH-A6CU-01A-11D-A31L-08		46752046	202498575	1	32729											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-QH-A6CU-01A-11D-A31L-08	TCGA-QH-A6CU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cc38bc2-1fc1-491a-af2b-511942996b69	94a2fad7-5e68-405f-9f04-e5c134dac8e0	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	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								22	52					0	0	1	0	0	T	209113112	C	T	209113112	3	4	382	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-QH-A6CU-01A-11D-A31L-08		209113112	34086261	2	32730											
ADAMTS9	56999	broad.mit.edu	37	3	64547306	64547306	+	Missense_Mutation	SNP	C	C	A			TCGA-QH-A6CU-01A-11D-A31L-08	TCGA-QH-A6CU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cc38bc2-1fc1-491a-af2b-511942996b69	94a2fad7-5e68-405f-9f04-e5c134dac8e0	g.chr3:64547306C>A	ENST00000498707.1	-	30	4988	c.4646G>T	c.(4645-4647)tGc>tTc	p.C1549F	ADAMTS9-AS1_ENST00000480831.1_RNA|ADAMTS9_ENST00000295903.4_Missense_Mutation_p.C1521F|ADAMTS9-AS1_ENST00000470447.1_RNA	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	1549	TSP type-1 12.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		TGGGCCTTGGCAGTCGCGTTC	0.577													38	96					2.75727e-19	2.9296e-19	1	1	0	A	64547306	C	A	64547306	3	1	382	1	0	0	0	0	1	0	0	0	272	710	25	5	1201	5	ADAMTS9	3	64547306	Missense_Mutation	SNP	C	TCGA-QH-A6CU-01A-11D-A31L-08		64547306	133475124	3	32731											
OR2Y1	134083	broad.mit.edu	37	5	180166535	180166535	+	Missense_Mutation	SNP	T	T	A			TCGA-QH-A6CU-01A-11D-A31L-08	TCGA-QH-A6CU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cc38bc2-1fc1-491a-af2b-511942996b69	94a2fad7-5e68-405f-9f04-e5c134dac8e0	g.chr5:180166535T>A	ENST00000307832.2	-	1	564	c.524A>T	c.(523-525)cAc>cTc	p.H175L		NM_001001657.1	NP_001001657.1	Q8NGV0	OR2Y1_HUMAN	olfactory receptor, family 2, subfamily Y, member 1	175					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20	all_cancers(89;1.25e-05)|all_epithelial(37;4.36e-06)|Renal(175;0.000159)|Lung NSC(126;0.00317)|all_lung(126;0.0041)|Breast(19;0.114)	all_cancers(40;0.0834)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ACAGAAGAAGTGATTCAGTCG	0.542													5	53					0	0	1	0	0	A	180166535	T	A	180166535	3	1	382	1	0	0	0	0	1	0	0	0	11083	1696	59	5	415	5	OR2Y1	5	180166535	Missense_Mutation	SNP	T	TCGA-QH-A6CU-01A-11D-A31L-08		180166535	748725	4	32732											
RREB1	6239	broad.mit.edu	37	6	7232039	7232039	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A6CU-01A-11D-A31L-08	TCGA-QH-A6CU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cc38bc2-1fc1-491a-af2b-511942996b69	94a2fad7-5e68-405f-9f04-e5c134dac8e0	g.chr6:7232039G>A	ENST00000379938.2	+	10	4244	c.3707G>A	c.(3706-3708)cGg>cAg	p.R1236Q	RREB1_ENST00000349384.6_Missense_Mutation_p.R1236Q|RREB1_ENST00000379933.3_Missense_Mutation_p.R1236Q|RREB1_ENST00000334984.6_Missense_Mutation_p.R1236Q	NM_001003699.3|NM_001003700.1	NP_001003699.1|NP_001003700.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	1236					multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				AGGGCCAAGCGGAACTCGTAC	0.612													24	49					0	0	1	0	0	A	7232039	G	A	7232039	3	1	382	1	0	0	0	0	1	0	0	0	13731	1116	39	1	3733	1	RREB1	6	7232039	Missense_Mutation	SNP	G	TCGA-QH-A6CU-01A-11D-A31L-08		7232039	163883028	5	32733											
SLC39A14	23516	broad.mit.edu	37	8	22273317	22273317	+	Silent	SNP	G	G	A	rs140196421		TCGA-QH-A6CU-01A-11D-A31L-08	TCGA-QH-A6CU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cc38bc2-1fc1-491a-af2b-511942996b69	94a2fad7-5e68-405f-9f04-e5c134dac8e0	g.chr8:22273317G>A	ENST00000381237.1	+	6	905	c.786G>A	c.(784-786)tcG>tcA	p.S262S	SLC39A14_ENST00000240095.6_Silent_p.S262S|SLC39A14_ENST00000289952.5_Silent_p.S262S|SLC39A14_ENST00000359741.5_Silent_p.S262S	NM_001128431.2	NP_001121903.1	Q15043	S39AE_HUMAN	solute carrier family 39 (zinc transporter), member 14	262						endoplasmic reticulum|Golgi apparatus|integral to membrane|lamellipodium|plasma membrane	zinc ion transmembrane transporter activity			NS(1)|endometrium(4)|large_intestine(2)|lung(4)|prostate(1)	12				Colorectal(74;0.019)|COAD - Colon adenocarcinoma(73;0.0731)		CCTCTGAGTCGCTTCCCTCCA	0.552													7	73					0	0	1	0	0	A	22273317	G	A	22273317	2	1	382	1	0	0	0	0	0	0	0	1	14672	1074	38	1		1	SLC39A14	8	22273317	Silent	SNP	G	TCGA-QH-A6CU-01A-11D-A31L-08		22273317	124090705	6	32734											
MTBP	27085	broad.mit.edu	37	8	121528321	121528321	+	Frame_Shift_Del	DEL	A	A	-			TCGA-QH-A6CU-01A-11D-A31L-08	TCGA-QH-A6CU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cc38bc2-1fc1-491a-af2b-511942996b69	94a2fad7-5e68-405f-9f04-e5c134dac8e0	g.chr8:121528321delA	ENST00000305949.1	+	18	2181	c.2136delA	c.(2134-2136)tcafs	p.S712fs		NM_022045.4	NP_071328.2	Q96DY7	MTBP_HUMAN	Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse) binding protein, 104kDa	712	Interaction with MDM2 (By similarity).				cell cycle arrest					NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00503)			TAGTTTCGTCAGATCCTGGAA	0.423													33	93	---	---	---	---						-	121528321	A	-	121528321	7	5	382	1	0	1	0	1	0	0	0	0	9960	175	7	0	2206	0	MTBP	8	121528321	Frame_Shift_Del	DEL	A	TCGA-QH-A6CU-01A-11D-A31L-08	99255004	121528321	24835701	7	32735											
IFNA21	3452	broad.mit.edu	37	9	21166376	21166376	+	Missense_Mutation	SNP	A	A	T			TCGA-QH-A6CU-01A-11D-A31L-08	TCGA-QH-A6CU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cc38bc2-1fc1-491a-af2b-511942996b69	94a2fad7-5e68-405f-9f04-e5c134dac8e0	g.chr9:21166376A>T	ENST00000380225.1	-	1	283	c.236T>A	c.(235-237)gTc>gAc	p.V79D		NM_002175.2	NP_002166.2	P01568	IFN21_HUMAN	interferon, alpha 21	79					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(3)	14				GBM - Glioblastoma multiforme(5;1.93e-187)|Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		CTCATGGAGGACAGAGATGGC	0.478													54	106					0	0	1	0	0	T	21166376	A	T	21166376	3	4	382	1	0	0	0	0	1	0	0	0	7582	275	10	5	337	5	IFNA21	9	21166376	Missense_Mutation	SNP	A	TCGA-QH-A6CU-01A-11D-A31L-08		21166376	120047055	8	32736											
ITIH5	80760	broad.mit.edu	37	10	7605143	7605143	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A6CU-01A-11D-A31L-08	TCGA-QH-A6CU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cc38bc2-1fc1-491a-af2b-511942996b69	94a2fad7-5e68-405f-9f04-e5c134dac8e0	g.chr10:7605143G>A	ENST00000256861.6	-	14	2810	c.2732C>T	c.(2731-2733)gCc>gTc	p.A911V	ITIH5_ENST00000298441.6_Missense_Mutation_p.A697V|ITIH5_ENST00000446830.2_Missense_Mutation_p.A693V|ITIH5_ENST00000397146.2_Intron	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	911					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						CAGTTTGGCGGCATTGTTCCT	0.522													4	178					0	0	1	0	0	A	7605143	G	A	7605143	3	1	382	1	0	0	0	0	1	0	0	0	7951	1203	42	2	142	2	ITIH5	10	7605143	Missense_Mutation	SNP	G	TCGA-QH-A6CU-01A-11D-A31L-08		7605143	127929604	9	32737											
ZMIZ1	57178	broad.mit.edu	37	10	81052006	81052026	+	In_Frame_Del	DEL	GCAGCAGCGGCAGTGGCAGCA	GCAGCAGCGGCAGTGGCAGCA	-			TCGA-QH-A6CU-01A-11D-A31L-08	TCGA-QH-A6CU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cc38bc2-1fc1-491a-af2b-511942996b69	94a2fad7-5e68-405f-9f04-e5c134dac8e0	g.chr10:81052006_81052026delGCAGCAGCGGCAGTGGCAGCA	ENST00000334512.5	+	11	1422_1442	c.850_870delGCAGCAGCGGCAGTGGCAGCA	c.(850-870)gcagcagcggcagtggcagcadel	p.AAAAVAA284del	ZMIZ1_ENST00000478357.1_3'UTR	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	284	Ala-rich.				transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			ggcagccgctgcagcagcggcagtggcagcagcagcagcCA	0.652													9	167	---	---	---	---						-	81052026	GCAGCAGCGGCAGTGGCAGCA	-	81052006	7	5	382	1	0	1	0	1	0	0	0	0	17754	1319	46	0	876	0	ZMIZ1	10	81052006	In_Frame_Del	DEL	GCAGCAGCGGCAGTGGCAGCA	TCGA-QH-A6CU-01A-11D-A31L-08	73446863	81052006	54482741	10	32738											
TCN1	6947	broad.mit.edu	37	11	59630180	59630180	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A6CU-01A-11D-A31L-08	TCGA-QH-A6CU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cc38bc2-1fc1-491a-af2b-511942996b69	94a2fad7-5e68-405f-9f04-e5c134dac8e0	g.chr11:59630180G>A	ENST00000257264.3	-	3	379	c.275C>T	c.(274-276)tCg>tTg	p.S92L	TCN1_ENST00000532419.1_5'UTR	NM_001062.3	NP_001053.2	P20061	TCO1_HUMAN	transcobalamin I (vitamin B12 binding protein, R binder family)	92					cobalamin metabolic process|cobalamin transport|cobalt ion transport	extracellular region	cobalamin binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29		all_epithelial(135;0.198)			Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	AAGCTCTCCCGAGCTTACATC	0.388													33	59					0	0	1	0	0	A	59630180	G	A	59630180	3	1	382	1	0	0	0	0	1	0	0	0	15766	1059	37	1	1054	1	TCN1	11	59630180	Missense_Mutation	SNP	G	TCGA-QH-A6CU-01A-11D-A31L-08		59630180	75376336	11	32739											
MAGOHB	55110	broad.mit.edu	37	12	10763280	10763280	+	Splice_Site	SNP	C	C	A			TCGA-QH-A6CU-01A-11D-A31L-08	TCGA-QH-A6CU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cc38bc2-1fc1-491a-af2b-511942996b69	94a2fad7-5e68-405f-9f04-e5c134dac8e0	g.chr12:10763280C>A	ENST00000320756.2	-	2	185		c.e2-1		MAGOHB_ENST00000539554.1_Splice_Site|MAGOHB_ENST00000381881.2_Splice_Site	NM_018048.3	NP_060518.1	Q96A72	MGN2_HUMAN	mago-nashi homolog B (Drosophila)						mRNA processing|mRNA transport|RNA splicing	nucleus	RNA binding			breast(2)|large_intestine(2)	4						CTAAGCTTTCCTGTGGGAAGT	0.259													3	26					1	1	1	1	0	A	10763280	C	A	10763280	5	1	382	1	0	0	0	0	0	0	1	0	9245	695	24	4	368	4	MAGOHB	12	10763280	Splice_Site	SNP	C	TCGA-QH-A6CU-01A-11D-A31L-08		10763280	123088615	12	32740											
AVPR1A	552	broad.mit.edu	37	12	63543874	63543874	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A6CU-01A-11D-A31L-08	TCGA-QH-A6CU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cc38bc2-1fc1-491a-af2b-511942996b69	94a2fad7-5e68-405f-9f04-e5c134dac8e0	g.chr12:63543874C>T	ENST00000299178.2	-	1	848	c.743G>A	c.(742-744)cGc>cAc	p.R248H		NM_000706.4	NP_000697.1	P37288	V1AR_HUMAN	arginine vasopressin receptor 1A	248					activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|generation of precursor metabolites and energy	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|prostate(2)|skin(1)	26			BRCA - Breast invasive adenocarcinoma(9;0.193)	GBM - Glioblastoma multiforme(28;0.0569)	Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Vasopressin(DB00067)	CGTCTTCCCGCGGACGTTGCA	0.622													79	140					0	0	1	0	0	T	63543874	C	T	63543874	3	4	382	1	0	0	0	0	1	0	0	0	1229	768	27	1	521	1	AVPR1A	12	63543874	Missense_Mutation	SNP	C	TCGA-QH-A6CU-01A-11D-A31L-08	52780594	63543874	70308021	13	32741											
DLK1	8788	broad.mit.edu	37	14	101200588	101200588	+	Silent	SNP	C	C	T	rs140697628		TCGA-QH-A6CU-01A-11D-A31L-08	TCGA-QH-A6CU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cc38bc2-1fc1-491a-af2b-511942996b69	94a2fad7-5e68-405f-9f04-e5c134dac8e0	g.chr14:101200588C>T	ENST00000341267.4	+	5	749	c.507C>T	c.(505-507)atC>atT	p.I169I	DLK1_ENST00000331224.6_Silent_p.I169I	NM_003836.5	NP_003827	P80370	DLK1_HUMAN	delta-like 1 homolog (Drosophila)	169					multicellular organismal development	extracellular space|integral to membrane|soluble fraction				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(16)|ovary(2)|prostate(1)|skin(1)	29		Melanoma(154;0.155)				TCTGCGAGATCGTGGCCAACA	0.667													5	157					0	0	1	0	0	T	101200588	C	T	101200588	2	4	382	1	0	0	0	0	0	0	0	1	4592	874	31	1		1	DLK1	14	101200588	Silent	SNP	C	TCGA-QH-A6CU-01A-11D-A31L-08		101200588	6148952	14	32742											
ACAN	176	broad.mit.edu	37	15	89400909	89400909	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A6CU-01A-11D-A31L-08	TCGA-QH-A6CU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cc38bc2-1fc1-491a-af2b-511942996b69	94a2fad7-5e68-405f-9f04-e5c134dac8e0	g.chr15:89400909G>A	ENST00000439576.2	+	12	5467	c.5093G>A	c.(5092-5094)aGt>aAt	p.S1698N	ACAN_ENST00000559004.1_Missense_Mutation_p.S1698N|ACAN_ENST00000561243.1_Missense_Mutation_p.S1698N|ACAN_ENST00000352105.7_Missense_Mutation_p.S1698N	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	1698					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			CTGCCCTCCAGTGAGCTGGAC	0.537													52	191					0	0	1	0	0	A	89400909	G	A	89400909	3	1	382	1	0	0	0	0	1	0	0	0	117	1029	36	2	5135	2	ACAN	15	89400909	Missense_Mutation	SNP	G	TCGA-QH-A6CU-01A-11D-A31L-08		89400909	13130483	15	32743											
CRISPLD2	83716	broad.mit.edu	37	16	84872264	84872264	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A6CU-01A-11D-A31L-08	TCGA-QH-A6CU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cc38bc2-1fc1-491a-af2b-511942996b69	94a2fad7-5e68-405f-9f04-e5c134dac8e0	g.chr16:84872264G>A	ENST00000262424.5	+	2	387	c.163G>A	c.(163-165)Gac>Aac	p.D55N	CRISPLD2_ENST00000566431.1_3'UTR|CRISPLD2_ENST00000567845.1_Missense_Mutation_p.D55N|CRISPLD2_ENST00000564567.1_Missense_Mutation_p.D55N|CRISPLD2_ENST00000569090.1_Missense_Mutation_p.D55N	NM_031476.3	NP_113664.1	Q9H0B8	CRLD2_HUMAN	cysteine-rich secretory protein LCCL domain containing 2	55						extracellular region|transport vesicle				endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)	18						CCCCAGGGAGGACAAGGAGGA	0.617													43	50					0	0	1	0	0	A	84872264	G	A	84872264	3	1	382	1	0	0	0	0	1	0	0	0	3906	1174	41	2	165	2	CRISPLD2	16	84872264	Missense_Mutation	SNP	G	TCGA-QH-A6CU-01A-11D-A31L-08		84872264	5482489	16	32744											
CASC3	22794	broad.mit.edu	37	17	38324149	38324149	+	Silent	SNP	G	G	A			TCGA-QH-A6CU-01A-11D-A31L-08	TCGA-QH-A6CU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cc38bc2-1fc1-491a-af2b-511942996b69	94a2fad7-5e68-405f-9f04-e5c134dac8e0	g.chr17:38324149G>A	ENST00000264645.7	+	10	1924	c.1698G>A	c.(1696-1698)ccG>ccA	p.P566P		NM_007359.4	NP_031385.2	O15234	CASC3_HUMAN	cancer susceptibility candidate 3	566	Necessary for localization in cytoplasmic stress granules.				mRNA processing|mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|response to stress|RNA splicing	exon-exon junction complex|nuclear speck|perinuclear region of cytoplasm	identical protein binding|RNA binding|ubiquitin protein ligase binding			endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2)	16						GCCCTGCCCCGCTGCCTCCAC	0.502													80	130					0	0	1	0	0	A	38324149	G	A	38324149	2	1	382	1	0	0	0	0	0	0	0	1	2679	1074	38	1		1	CASC3	17	38324149	Silent	SNP	G	TCGA-QH-A6CU-01A-11D-A31L-08		38324149	42871061	17	32745											
FZR1	51343	broad.mit.edu	37	19	3527700	3527700	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A6CU-01A-11D-A31L-08	TCGA-QH-A6CU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cc38bc2-1fc1-491a-af2b-511942996b69	94a2fad7-5e68-405f-9f04-e5c134dac8e0	g.chr19:3527700C>T	ENST00000441788.2	+	7	778	c.542C>T	c.(541-543)gCg>gTg	p.A181V	FZR1_ENST00000395095.3_Missense_Mutation_p.A181V|FZR1_ENST00000313639.8_Intron	NM_016263.3	NP_057347.2	Q9UM11	FZR_HUMAN	fizzy/cell division cycle 20 related 1 (Drosophila)	181					activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|DNA repair|G2/M transition DNA damage checkpoint|mitosis|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle	cytosol|nucleoplasm	protein binding			endometrium(1)|kidney(4)|liver(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)	13				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)		GTGCTGGACGCGCCCGAGCTG	0.637													14	32					0	0	1	0	0	T	3527700	C	T	3527700	3	4	382	1	0	0	0	0	1	0	0	0	6173	768	27	1	564	1	FZR1	19	3527700	Missense_Mutation	SNP	C	TCGA-QH-A6CU-01A-11D-A31L-08		3527700	55601283	18	32746											
PLCG1	5335	broad.mit.edu	37	20	39798830	39798830	+	Missense_Mutation	SNP	A	A	T			TCGA-QH-A6CU-01A-11D-A31L-08	TCGA-QH-A6CU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cc38bc2-1fc1-491a-af2b-511942996b69	94a2fad7-5e68-405f-9f04-e5c134dac8e0	g.chr20:39798830A>T	ENST00000373272.2	+	24	3134	c.2729A>T	c.(2728-2730)gAt>gTt	p.D910V	PLCG1_ENST00000373271.1_Missense_Mutation_p.D910V|PLCG1_ENST00000244007.3_Missense_Mutation_p.D910V	NM_002660.2	NP_002651.2	P19174	PLCG1_HUMAN	phospholipase C, gamma 1	910	PH 2; second part.				activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration|T cell receptor signaling pathway	cytosol|lamellipodium|plasma membrane|ruffle	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity			breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2)	46		Myeloproliferative disorder(115;0.00878)				TGGTCCCTGGATGTTGCTGCC	0.592													4	155					0	0	1	0	0	T	39798830	A	T	39798830	3	4	382	1	0	0	0	0	1	0	0	0	12083	333	12	4	2823	4	PLCG1	20	39798830	Missense_Mutation	SNP	A	TCGA-QH-A6CU-01A-11D-A31L-08		39798830	23226690	19	32747											
SATL1	340562	broad.mit.edu	37	X	84362660	84362660	+	Nonsense_Mutation	SNP	G	G	A			TCGA-QH-A6CU-01A-11D-A31L-08	TCGA-QH-A6CU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cc38bc2-1fc1-491a-af2b-511942996b69	94a2fad7-5e68-405f-9f04-e5c134dac8e0	g.chrX:84362660G>A	ENST00000509231.1	-	1	1394	c.1315C>T	c.(1315-1317)Cga>Tga	p.R439*	SATL1_ENST00000395409.3_Nonsense_Mutation_p.R252*|SATL1_ENST00000332921.5_Nonsense_Mutation_p.R252*			Q86VE3	SATL1_HUMAN	spermidine/spermine N1-acetyl transferase-like 1	252	Acetyl-CoA binding (By similarity).|N-acetyltransferase.						N-acetyltransferase activity			NS(1)|breast(5)|endometrium(2)|large_intestine(3)|lung(13)|skin(3)|stomach(1)|urinary_tract(1)	29						CACATGCCTCGTTGCCACATG	0.552													9	220					0	0	1	0	0	A	84362660	G	A	84362660	4	1	382	1	0	0	0	0	0	1	0	0	13908	1153	40	1	603	1	SATL1	23	84362660	Nonsense_Mutation	SNP	G	TCGA-QH-A6CU-01A-11D-A31L-08		84362660	70907900	20	32748											
HCFC1	3054	broad.mit.edu	37	X	153222852	153222852	+	Missense_Mutation	SNP	C	C	A			TCGA-QH-A6CU-01A-11D-A31L-08	TCGA-QH-A6CU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cc38bc2-1fc1-491a-af2b-511942996b69	94a2fad7-5e68-405f-9f04-e5c134dac8e0	g.chrX:153222852C>A	ENST00000310441.7	-	13	3232	c.2266G>T	c.(2266-2268)Gtc>Ttc	p.V756F	HCFC1_ENST00000354233.3_Missense_Mutation_p.V687F|HCFC1_ENST00000369984.4_Missense_Mutation_p.V756F	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1 (VP16-accessory protein)	756	Interaction with ZBTB17.				cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CTGGGGGAGACGCTGCTGATG	0.652													97	204					3.17287e-45	3.47993e-45	1	1	0	A	153222852	C	A	153222852	3	1	382	1	0	0	0	0	1	0	0	0	7032	536	19	5	3897	5	HCFC1	23	153222852	Missense_Mutation	SNP	C	TCGA-QH-A6CU-01A-11D-A31L-08	68860192	153222852	2047708	21	32749											
PLXNA3	55558	broad.mit.edu	37	X	153688564	153688565	+	Frame_Shift_Ins	INS	-	-	G			TCGA-QH-A6CU-01A-11D-A31L-08	TCGA-QH-A6CU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cc38bc2-1fc1-491a-af2b-511942996b69	94a2fad7-5e68-405f-9f04-e5c134dac8e0	g.chrX:153688564_153688565insG	ENST00000369682.3	+	2	216_217	c.41_42insG	c.(40-45)gtggggfs	p.VG14fs		NM_017514.3	NP_059984.3	P51805	PLXA3_HUMAN	plexin A3	14					axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity	p.A17fs*39(1)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TTCCTTGCCGTGGGGGGGGCCC	0.683													7	155	---	---	---	---						G	153688565	-	G	153688564	7	5	382	1	0	1	1	0	0	0	0	0	12169	1696	59	0	43	0	PLXNA3	23	153688564	Frame_Shift_Ins	INS	-	TCGA-QH-A6CU-01A-11D-A31L-08	465712	153688564	1581996	22	32750											
GLIS1	148979	broad.mit.edu	37	1	54060262	54060262	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr1:54060262C>T	ENST00000312233.2	-	3	880	c.314G>A	c.(313-315)cGg>cAg	p.R105Q		NM_147193.2	NP_671726.2	Q8NBF1	GLIS1_HUMAN	GLIS family zinc finger 1	105					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(3)|urinary_tract(4)	24						AGGGGGGCTCCGGAGTCCATT	0.662													5	52					0	0	1	0	0	T	54060262	C	T	54060262	3	4	383	1	0	0	0	0	1	0	0	0	6487	652	23	1	1580	1	GLIS1	1	54060262	Missense_Mutation	SNP	C	TCGA-QH-A6CV-01A-11D-A31L-08		54060262	195190359	1	32751											
OR10J3	441911	broad.mit.edu	37	1	159284152	159284152	+	Missense_Mutation	SNP	T	T	A			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr1:159284152T>A	ENST00000332217.5	-	1	297	c.298A>T	c.(298-300)Act>Tct	p.T100S		NM_001004467.1	NP_001004467.1	Q5JRS4	O10J3_HUMAN	olfactory receptor, family 10, subfamily J, member 3	100					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	47	all_hematologic(112;0.0429)					AAGAGCTGAGTGGCACAGCTT	0.507													24	53					0	0	1	0	0	A	159284152	T	A	159284152	3	1	383	1	0	0	0	0	1	0	0	0	10959	1696	59	5	693	5	OR10J3	1	159284152	Missense_Mutation	SNP	T	TCGA-QH-A6CV-01A-11D-A31L-08	105223890	159284152	89966469	2	32752											
OBSCN	84033	broad.mit.edu	37	1	228437713	228437713	+	Nonsense_Mutation	SNP	C	C	T			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr1:228437713C>T	ENST00000570156.2	+	15	4431	c.4357C>T	c.(4357-4359)Cag>Tag	p.Q1453*	OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000422127.1_Nonsense_Mutation_p.Q1361*|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000284548.11_Nonsense_Mutation_p.Q1361*	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	431	Ig-like 15.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CAGGAAGGTGCAGGCCGAGGC	0.637													4	85					0	0	1	0	0	T	228437713	C	T	228437713	4	4	383	1	0	0	0	0	0	1	0	0	10860	711	25	2	4131	2	OBSCN	1	228437713	Nonsense_Mutation	SNP	C	TCGA-QH-A6CV-01A-11D-A31L-08	69153561	228437713	20812908	3	32753											
PCNXL2	80003	broad.mit.edu	37	1	233160996	233160996	+	Nonsense_Mutation	SNP	G	G	A			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr1:233160996G>A	ENST00000258229.9	-	26	4735	c.4501C>T	c.(4501-4503)Cag>Tag	p.Q1501*	PCNXL2_ENST00000344698.2_Nonsense_Mutation_p.Q153*	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)							integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				TACTGGGTCTGCGTGATTTCC	0.592											OREG0014326	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	124					0	0	1	0	0	A	233160996	G	A	233160996	4	1	383	1	0	0	0	0	0	1	0	0	11639	1328	46	2	1948	2	PCNXL2	1	233160996	Nonsense_Mutation	SNP	G	TCGA-QH-A6CV-01A-11D-A31L-08	4723283	233160996	16089625	4	32754											
OR2T6	254879	broad.mit.edu	37	1	248551726	248551726	+	Missense_Mutation	SNP	G	G	T			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr1:248551726G>T	ENST00000355728.2	+	1	817	c.817G>T	c.(817-819)Gtc>Ttc	p.V273F		NM_001005471.1	NP_001005471.1	Q8NHC8	OR2T6_HUMAN	olfactory receptor, family 2, subfamily T, member 6	273					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(5)|lung(38)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CAAAGATAAGGTCTTCTCTGC	0.473													18	39					2.94398e-08	3.10754e-08	1	1	0	T	248551726	G	T	248551726	3	4	383	1	0	0	0	0	1	0	0	0	11077	1261	44	5	819	5	OR2T6	1	248551726	Missense_Mutation	SNP	G	TCGA-QH-A6CV-01A-11D-A31L-08	15390730	248551726	698895	5	32755											
ADI1	55256	broad.mit.edu	37	2	3517685	3517685	+	Nonsense_Mutation	SNP	G	G	T			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr2:3517685G>T	ENST00000382093.5	-	2	3002	c.165C>A	c.(163-165)taC>taA	p.Y55*	ADI1_ENST00000327435.6_Nonsense_Mutation_p.Y61*			Q9BV57	MTND_HUMAN	acireductone dioxygenase 1	61					L-methionine salvage from methylthioadenosine	cytoplasm|nucleus|plasma membrane	acireductone dioxygenase (Ni2+-requiring) activity|metal ion binding|protein binding			breast(2)|large_intestine(2)|lung(4)|ovary(1)|stomach(1)	10	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)			OV - Ovarian serous cystadenocarcinoma(76;0.0729)|Epithelial(75;0.173)|all cancers(51;0.228)		CCATCCAGGAGTAGTTCCTCT	0.373													6	42					0.217242	0.217242	1	1	0	T	3517685	G	T	3517685	4	4	383	1	0	0	0	0	0	1	0	0	314	1024	36	4	368	4	ADI1	2	3517685	Nonsense_Mutation	SNP	G	TCGA-QH-A6CV-01A-11D-A31L-08		3517685	239681688	6	32756											
TP53I3	9540	broad.mit.edu	37	2	24307151	24307151	+	Missense_Mutation	SNP	A	A	G			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr2:24307151A>G	ENST00000238721.4	-	1	900	c.46T>C	c.(46-48)Tac>Cac	p.Y16H	TP53I3_ENST00000407482.1_Missense_Mutation_p.Y16H|TP53I3_ENST00000313482.4_Missense_Mutation_p.Y16H|FAM228B_ENST00000461972.1_Intron|TP53I3_ENST00000335934.4_Missense_Mutation_p.Y16H|TP53I3_ENST00000417886.1_5'UTR	NM_004881.4	NP_004872.2	Q53FA7	QORX_HUMAN	tumor protein p53 inducible protein 3	16					induction of apoptosis by oxidative stress|NADP metabolic process		NADPH binding|NADPH:quinone reductase activity|protein homodimerization activity|quinone binding|zinc ion binding			endometrium(1)|kidney(4)|large_intestine(2)|lung(3)|urinary_tract(2)	12	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCCTTCACGTAGAGGTTTTCC	0.642											OREG0014492	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	23					0	0	1	0	0	G	24307151	A	G	24307151	3	3	383	1	0	0	0	0	1	0	0	0	16448	420	15	3	972	3	TP53I3	2	24307151	Missense_Mutation	SNP	A	TCGA-QH-A6CV-01A-11D-A31L-08	20789466	24307151	218892222	7	32757											
ACTR2	10097	broad.mit.edu	37	2	65473766	65473766	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr2:65473766G>A	ENST00000260641.5	+	3	425	c.268G>A	c.(268-270)Gac>Aac	p.D90N	ACTR2_ENST00000377982.4_Missense_Mutation_p.D95N|ACTR2_ENST00000476840.1_3'UTR|ACTR2_ENST00000542850.1_Missense_Mutation_p.D35N	NM_005722.3	NP_005713.1	P61160	ARP2_HUMAN	ARP2 actin-related protein 2 homolog (yeast)	90					cellular component movement	Arp2/3 protein complex|cell projection|cytoplasm	actin binding|ATP binding			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(1)|prostate(1)	12						ACACCTGTGGGACTACACATT	0.383													25	107					0	0	1	0	0	A	65473766	G	A	65473766	3	1	383	1	0	0	0	0	1	0	0	0	211	1174	41	2	297	2	ACTR2	2	65473766	Missense_Mutation	SNP	G	TCGA-QH-A6CV-01A-11D-A31L-08	41166615	65473766	177725607	8	32758											
MYO1B	4430	broad.mit.edu	37	2	192251949	192251949	+	Splice_Site	SNP	G	G	A			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr2:192251949G>A	ENST00000392318.3	+	17	1801		c.e17-1		MYO1B_ENST00000339514.4_Splice_Site|MYO1B_ENST00000392316.1_Splice_Site|MYO1B_ENST00000304164.4_Splice_Site	NM_001130158.1	NP_001123630.1	O43795	MYO1B_HUMAN	myosin IB							myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|central_nervous_system(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(19)|ovary(1)	55			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)			GCTGCTTATAGGTGCTGTACC	0.443													16	35					0	0	1	0	0	A	192251949	G	A	192251949	5	1	383	1	0	0	0	0	0	0	1	0	10117	1014	35	2	1616	2	MYO1B	2	192251949	Splice_Site	SNP	G	TCGA-QH-A6CV-01A-11D-A31L-08	126778183	192251949	50947424	9	32759											
ERBB4	2066	broad.mit.edu	37	2	212652796	212652796	+	Silent	SNP	T	T	C			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr2:212652796T>C	ENST00000342788.4	-	4	820	c.510A>G	c.(508-510)ccA>ccG	p.P170P	ERBB4_ENST00000402597.1_Silent_p.P170P|ERBB4_ENST00000484474.1_5'UTR|ERBB4_ENST00000436443.1_Silent_p.P170P	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	170					cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		TGGAAGGCCATGGGTTCCGAA	0.363										TSP Lung(8;0.080)			26	26					0	0	1	0	0	C	212652796	T	C	212652796	2	2	383	1	0	0	0	0	0	0	0	1	5237	1451	51	3		3	ERBB4	2	212652796	Silent	SNP	T	TCGA-QH-A6CV-01A-11D-A31L-08	20400847	212652796	30546577	10	32760											
LRRC15	131578	broad.mit.edu	37	3	194080647	194080647	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr3:194080647G>A	ENST00000347624.3	-	2	1211	c.1126C>T	c.(1126-1128)Cgc>Tgc	p.R376C	LRRC15_ENST00000428839.1_Missense_Mutation_p.R382C|LRRC15_ENST00000439944.2_Missense_Mutation_p.R382C	NM_130830.4	NP_570843.2	Q8TF66	LRC15_HUMAN	leucine rich repeat containing 15	376						integral to membrane				biliary_tract(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(20)|ovary(4)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.94e-05)		TGTCTGAGGCGGTTGTTCTGC	0.587													8	13					0	0	1	0	0	A	194080647	G	A	194080647	3	1	383	1	0	0	0	0	1	0	0	0	9015	1116	39	1	623	1	LRRC15	3	194080647	Missense_Mutation	SNP	G	TCGA-QH-A6CV-01A-11D-A31L-08		194080647	3941783	11	32761											
C4orf21	55345	broad.mit.edu	37	4	113461096	113461096	+	Missense_Mutation	SNP	C	C	G			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr4:113461096C>G	ENST00000505019.1	-	27	6220	c.6095G>C	c.(6094-6096)aGg>aCg	p.R2032T	RP11-402J6.1_ENST00000504009.1_RNA	NM_018392.4	NP_060862.3	Q86YA3	CD021_HUMAN	chromosome 4 open reading frame 21	0										breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		CAACAAATGCCTCTTTCCTCT	0.368													21	30					0	0	1	0	0	G	113461096	C	G	113461096	3	3	383	1	0	0	0	0	1	0	0	0	2269	681	24	4	227	4	C4orf21	4	113461096	Missense_Mutation	SNP	C	TCGA-QH-A6CV-01A-11D-A31L-08		113461096	77693180	12	32762											
RXFP1	59350	broad.mit.edu	37	4	159566103	159566103	+	Silent	SNP	T	T	G			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr4:159566103T>G	ENST00000307765.5	+	15	1409	c.1158T>G	c.(1156-1158)gtT>gtG	p.V386V	RXFP1_ENST00000460056.2_Silent_p.V305V|RXFP1_ENST00000470033.1_Silent_p.V353V|RXFP1_ENST00000448688.2_Silent_p.V281V|RXFP1_ENST00000343542.5_Silent_p.V338V	NM_001253727.1|NM_001253728.1|NM_001253730.1|NM_001253732.1|NM_001253733.1|NM_021634.3	NP_001240656.1|NP_001240657.1|NP_001240659.1|NP_001240661.1|NP_001240662.1|NP_067647.2	Q9HBX9	RXFP1_HUMAN	relaxin/insulin-like family peptide receptor 1	386						integral to membrane|plasma membrane	G-protein coupled receptor activity|metal ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10)	49	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0219)		CACCACATGTTCGCAGCTGTA	0.368													6	18					0	0	1	0	0	G	159566103	T	G	159566103	2	3	383	1	0	0	0	0	0	0	0	1	13811	1770	62	5		5	RXFP1	4	159566103	Silent	SNP	T	TCGA-QH-A6CV-01A-11D-A31L-08	46105007	159566103	31588173	13	32763											
MTRR	4552	broad.mit.edu	37	5	7900165	7900165	+	Nonsense_Mutation	SNP	G	G	A			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr5:7900165G>A	ENST00000264668.2	+	15	2202	c.2172G>A	c.(2170-2172)tgG>tgA	p.W724*	MTRR_ENST00000440940.2_Nonsense_Mutation_p.W697*	NM_002454.2|NM_024010.2	NP_002445.2|NP_076915.2	Q9UBK8	MTRR_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase reductase	724					methionine biosynthetic process	cytosol	[methionine synthase] reductase activity|flavin adenine dinucleotide binding|FMN binding|iron ion binding|NADP binding			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(14)|ovary(1)|prostate(3)|stomach(1)	31					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)	AGGATATTTGGTCATAAAACC	0.323													6	111					0	0	1	0	0	A	7900165	G	A	7900165	4	1	383	1	0	0	0	0	0	1	0	0	10009	1270	44	2	2230	2	MTRR	5	7900165	Nonsense_Mutation	SNP	G	TCGA-QH-A6CV-01A-11D-A31L-08		7900165	173015095	14	32764											
CSF2	1437	broad.mit.edu	37	5	131409549	131409549	+	Silent	SNP	T	T	G			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr5:131409549T>G	ENST00000296871.2	+	1	67	c.33T>G	c.(31-33)acT>acG	p.T11T		NM_000758.3	NP_000749.2	P04141	CSF2_HUMAN	colony stimulating factor 2 (granulocyte-macrophage)	11					immune response|negative regulation of cytolysis|positive regulation of DNA replication|positive regulation of interleukin-23 production|positive regulation of macrophage derived foam cell differentiation|positive regulation of podosome assembly|positive regulation of tyrosine phosphorylation of Stat5 protein	extracellular space	cytokine activity|granulocyte macrophage colony-stimulating factor receptor binding|growth factor activity			skin(1)	1		all_cancers(142;4.28e-07)|all_lung(232;2.81e-05)|Lung NSC(810;0.000693)|Lung SC(612;0.122)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		Sargramostim(DB00020)	TCTTGGGCACTGTGGCCTGCA	0.602													11	79					0	0	1	0	0	G	131409549	T	G	131409549	2	3	383	1	0	0	0	0	0	0	0	1	3958	1567	55	5		5	CSF2	5	131409549	Silent	SNP	T	TCGA-QH-A6CV-01A-11D-A31L-08	123509384	131409549	49505711	15	32765											
TRPC7	57113	broad.mit.edu	37	5	135601935	135601935	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr5:135601935C>T	ENST00000513104.1	-	5	1600	c.1318G>A	c.(1318-1320)Gaa>Aaa	p.E440K	TRPC7_ENST00000355180.3_Missense_Mutation_p.E379K|TRPC7_ENST00000426057.2_Missense_Mutation_p.E324K	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	440					axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			ATGAGCATTTCTGTCCAGGAG	0.378													15	191					0	0	1	0	0	T	135601935	C	T	135601935	3	4	383	1	0	0	0	0	1	0	0	0	16645	922	32	2	1302	2	TRPC7	5	135601935	Missense_Mutation	SNP	C	TCGA-QH-A6CV-01A-11D-A31L-08	4192386	135601935	45313325	16	32766											
ARHGAP26	23092	broad.mit.edu	37	5	142500615	142500615	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr5:142500615C>T	ENST00000378004.3	+	18	1956	c.1601C>T	c.(1600-1602)cCc>cTc	p.P534L	ARHGAP26_ENST00000274498.4_Missense_Mutation_p.P534L	NM_001135608.1	NP_001129080.1	Q9UNA1	RHG26_HUMAN	Rho GTPase activating protein 26	534	Rho-GAP.				actin cytoskeleton organization|filopodium assembly|nervous system development|small GTPase mediated signal transduction	cytoskeleton|cytosol|focal adhesion	cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(7)|ovary(1)	25		all_hematologic(541;0.0416)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GTGTTTGGACCCACTCTGCTG	0.438													18	152					0	0	1	0	0	T	142500615	C	T	142500615	3	4	383	1	0	0	0	0	1	0	0	0	872	623	22	2	1671	2	ARHGAP26	5	142500615	Missense_Mutation	SNP	C	TCGA-QH-A6CV-01A-11D-A31L-08	6898680	142500615	38414645	17	32767											
KIF4B	285643	broad.mit.edu	37	5	154395583	154395583	+	Nonsense_Mutation	SNP	C	C	T			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr5:154395583C>T	ENST00000435029.4	+	1	2324	c.2164C>T	c.(2164-2166)Cga>Tga	p.R722*		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	722	Interaction with PRC1 (By similarity).				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			CCAGAAACAACGAGAGGTCAC	0.468													4	90					0	0	1	0	0	T	154395583	C	T	154395583	4	4	383	1	0	0	0	0	0	1	0	0	8346	528	19	1	2166	1	KIF4B	5	154395583	Nonsense_Mutation	SNP	C	TCGA-QH-A6CV-01A-11D-A31L-08	11894968	154395583	26519677	18	32768											
CLK4	57396	broad.mit.edu	37	5	178030707	178030707	+	Nonsense_Mutation	SNP	G	G	A			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr5:178030707G>A	ENST00000316308.4	-	13	1525	c.1357C>T	c.(1357-1359)Cga>Tga	p.R453*		NM_020666.2	NP_065717.1	Q9HAZ1	CLK4_HUMAN	CDC-like kinase 4	453	Protein kinase.					nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(2)	21	all_cancers(89;0.000969)|Renal(175;0.000159)|all_epithelial(37;0.000451)|Lung NSC(126;0.00545)|all_lung(126;0.00918)	all_cancers(40;0.0272)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.235)		AACATTCTTCGAACCAGGTCA	0.318													14	34					0	0	1	0	0	A	178030707	G	A	178030707	4	1	383	1	0	0	0	0	0	1	0	0	3562	1066	37	1	92	1	CLK4	5	178030707	Nonsense_Mutation	SNP	G	TCGA-QH-A6CV-01A-11D-A31L-08	23635124	178030707	2884553	19	32769											
FLT4	2324	broad.mit.edu	37	5	180056400	180056400	+	Nonsense_Mutation	SNP	G	G	A			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr5:180056400G>A	ENST00000261937.6	-	7	922	c.844C>T	c.(844-846)Cga>Tga	p.R282*	FLT4_ENST00000393347.3_Nonsense_Mutation_p.R282*|FLT4_ENST00000424276.2_5'UTR|FLT4_ENST00000502649.1_Nonsense_Mutation_p.R282*	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	282	Ig-like C2-type 3.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	TGGGAGCGTCGCTCGGGCACC	0.662													11	69					0	0	1	0	0	A	180056400	G	A	180056400	4	1	383	1	0	0	0	0	0	1	0	0	5977	1095	38	1	3351	1	FLT4	5	180056400	Nonsense_Mutation	SNP	G	TCGA-QH-A6CV-01A-11D-A31L-08	2025693	180056400	858860	20	32770											
RANBP9	10048	broad.mit.edu	37	6	13642747	13642747	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr6:13642747C>T	ENST00000011619.3	-	7	1247	c.1189G>A	c.(1189-1191)Gtt>Att	p.V397I	RANBP9_ENST00000539980.1_Missense_Mutation_p.V168I	NM_005493.2	NP_005484.2	Q96S59	RANB9_HUMAN	RAN binding protein 9	397	LisH.				axon guidance|microtubule nucleation|protein complex assembly	cytosol|microtubule associated complex|nucleus	Ran GTPase binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	16	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.117)	Epithelial(50;0.223)			TCTTCTAGAACGGTCTGGTCT	0.363													15	32					0	0	1	0	0	T	13642747	C	T	13642747	3	4	383	1	0	0	0	0	1	0	0	0	13084	536	19	1	1032	1	RANBP9	6	13642747	Missense_Mutation	SNP	C	TCGA-QH-A6CV-01A-11D-A31L-08		13642747	157472320	21	32771											
PKHD1	5314	broad.mit.edu	37	6	51656142	51656142	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr6:51656142G>A	ENST00000371117.3	-	53	8607	c.8332C>T	c.(8332-8334)Cca>Tca	p.P2778S	PKHD1_ENST00000340994.4_Missense_Mutation_p.P2778S	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	2778	G8 2.				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)					TTGAAGAATGGAAGATCTGTA	0.453													14	25					0	0	1	0	0	A	51656142	G	A	51656142	3	1	383	1	0	0	0	0	1	0	0	0	12019	1174	41	2	3991	2	PKHD1	6	51656142	Missense_Mutation	SNP	G	TCGA-QH-A6CV-01A-11D-A31L-08	38013395	51656142	119458925	22	32772											
LAMA4	3910	broad.mit.edu	37	6	112522827	112522827	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr6:112522827G>A	ENST00000230538.7	-	5	882	c.485C>T	c.(484-486)gCt>gTt	p.A162V	LAMA4_ENST00000524032.1_5'UTR|LAMA4_ENST00000424408.2_Missense_Mutation_p.A162V|LAMA4_ENST00000389463.4_Missense_Mutation_p.A162V|LAMA4_ENST00000522006.1_Missense_Mutation_p.A162V	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	162	Laminin EGF-like 2.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		GTTAGGTCCAGCATAATTTTC	0.388													5	338					0	0	1	0	0	A	112522827	G	A	112522827	3	1	383	1	0	0	0	0	1	0	0	0	8647	971	34	2	5126	2	LAMA4	6	112522827	Missense_Mutation	SNP	G	TCGA-QH-A6CV-01A-11D-A31L-08	60866685	112522827	58592240	23	32773											
TAAR8	83551	broad.mit.edu	37	6	132874647	132874647	+	Silent	SNP	G	G	A			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr6:132874647G>A	ENST00000275200.1	+	1	816	c.816G>A	c.(814-816)ccG>ccA	p.P272P		NM_053278.1	NP_444508.1	Q969N4	TAAR8_HUMAN	trace amine associated receptor 8	272						plasma membrane	G-protein coupled receptor activity			endometrium(3)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.00412)|GBM - Glioblastoma multiforme(226;0.00792)		CATGGTTACCGTATACAGTTG	0.413													4	105					0	0	1	0	0	A	132874647	G	A	132874647	2	1	383	1	0	0	0	0	0	0	0	1	15550	1132	40	1		1	TAAR8	6	132874647	Silent	SNP	G	TCGA-QH-A6CV-01A-11D-A31L-08	20351820	132874647	38240420	24	32774											
ADAP1	11033	broad.mit.edu	37	7	944779	944779	+	Missense_Mutation	SNP	C	C	G			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr7:944779C>G	ENST00000265846.5	-	5	638	c.419G>C	c.(418-420)gGc>gCc	p.G140A	ADAP1_ENST00000539900.1_Missense_Mutation_p.G151A|ADAP1_ENST00000449296.2_Missense_Mutation_p.G68A|ADAP1_ENST00000463358.1_5'UTR	NM_001284308.1|NM_001284309.1|NM_001284311.1|NM_006869.2	NP_001271237.1|NP_001271238.1|NP_001271240.1|NP_006860	O75689	ADAP1_HUMAN	ArfGAP with dual PH domains 1	140	PH 1.				cell surface receptor linked signaling pathway|regulation of ARF GTPase activity	cytoplasm|nucleus|plasma membrane	ARF GTPase activator activity|inositol 1,3,4,5 tetrakisphosphate binding|protein binding|zinc ion binding			endometrium(1)|kidney(1)|lung(3)|upper_aerodigestive_tract(1)	6						GTTGTCCCGGCCACGCTTCCA	0.552													13	88					0	0	1	0	0	G	944779	C	G	944779	3	3	383	1	0	0	0	0	1	0	0	0	278	739	26	5	733	5	ADAP1	7	944779	Missense_Mutation	SNP	C	TCGA-QH-A6CV-01A-11D-A31L-08		944779	158193884	25	32775											
THSD7A	221981	broad.mit.edu	37	7	11452289	11452289	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr7:11452289C>T	ENST00000423059.4	-	18	3927	c.3676G>A	c.(3676-3678)Gta>Ata	p.V1226I	AC004160.4_ENST00000425837.1_RNA|AC004538.3_ENST00000445839.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A		TSP type-1 12.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		GTACCTGTTACATTATAATCA	0.423										HNSCC(18;0.044)			3	32					0	0	1	0	0	T	11452289	C	T	11452289	3	4	383	1	0	0	0	0	1	0	0	0	15939	478	17	2	1341	2	THSD7A	7	11452289	Missense_Mutation	SNP	C	TCGA-QH-A6CV-01A-11D-A31L-08	10507510	11452289	147686374	26	32776											
GRM3	2913	broad.mit.edu	37	7	86469169	86469169	+	Missense_Mutation	SNP	T	T	C			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr7:86469169T>C	ENST00000361669.2	+	4	3438	c.2339T>C	c.(2338-2340)aTc>aCc	p.I780T	GRM3_ENST00000394720.2_Intron|GRM3_ENST00000536043.1_Missense_Mutation_p.I652T|GRM3_ENST00000439827.1_Intron|GRM3_ENST00000546348.1_Missense_Mutation_p.I372T	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	780					synaptic transmission	integral to plasma membrane				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	ACCACGTGCATCATCTGGTTG	0.413													5	135					0	0	1	0	0	C	86469169	T	C	86469169	3	2	383	1	0	0	0	0	1	0	0	0	6839	1435	50	3	2349	3	GRM3	7	86469169	Missense_Mutation	SNP	T	TCGA-QH-A6CV-01A-11D-A31L-08	75016880	86469169	72669494	27	32777											
GRM8	2918	broad.mit.edu	37	7	126173225	126173225	+	Silent	SNP	C	C	T			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr7:126173225C>T	ENST00000339582.2	-	9	3019	c.2211G>A	c.(2209-2211)agG>agA	p.R737R	GRM8_ENST00000444921.2_Silent_p.R737R|GRM8_ENST00000358373.3_Silent_p.R737R|GRM8_ENST00000480995.1_5'UTR			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	737					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	TGAGCACTCCCCTGGCCTTCT	0.473										HNSCC(24;0.065)			8	37					0	0	1	0	0	T	126173225	C	T	126173225	2	4	383	1	0	0	0	0	0	0	0	1	6844	622	22	2		2	GRM8	7	126173225	Silent	SNP	C	TCGA-QH-A6CV-01A-11D-A31L-08	39704056	126173225	32965438	28	32778											
ADCK2	90956	broad.mit.edu	37	7	140374051	140374051	+	Silent	SNP	C	C	T			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr7:140374051C>T	ENST00000072869.4	+	1	1099	c.921C>T	c.(919-921)tcC>tcT	p.S307S	ADCK2_ENST00000476491.1_Silent_p.S307S	NM_052853.3	NP_443085.2	Q7Z695	ADCK2_HUMAN	aarF domain containing kinase 2	307	Protein kinase.		S -> P (in dbSNP:rs1140034).			integral to membrane	ATP binding|protein serine/threonine kinase activity			cervix(1)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|skin(4)	15	Melanoma(164;0.00956)					ACCTCATCTCCGTGGCAGTGA	0.552													11	80					0	0	1	0	0	T	140374051	C	T	140374051	2	4	383	1	0	0	0	0	0	0	0	1	288	639	23	1		1	ADCK2	7	140374051	Silent	SNP	C	TCGA-QH-A6CV-01A-11D-A31L-08	14200826	140374051	18764612	29	32779											
SGK223	157285	broad.mit.edu	37	8	8175831	8175831	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr8:8175831C>T	ENST00000520004.1	-	6	4318	c.4054G>A	c.(4054-4056)Gac>Aac	p.D1352N	SGK223_ENST00000330777.4_Missense_Mutation_p.D1352N			Q86YV5	SG223_HUMAN		1352							ATP binding|non-membrane spanning protein tyrosine kinase activity										CGCTTCATGTCGATCCAGTTG	0.677													70	84					0	0	1	0	0	T	8175831	C	T	8175831	3	4	383	1	0	0	0	0	1	0	0	0	14264	884	31	1	158	1	SGK223	8	8175831	Missense_Mutation	SNP	C	TCGA-QH-A6CV-01A-11D-A31L-08		8175831	138188191	30	32780											
LGI3	203190	broad.mit.edu	37	8	22006354	22006354	+	Silent	SNP	G	G	A			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr8:22006354G>A	ENST00000306317.2	-	8	1255	c.966C>T	c.(964-966)gaC>gaT	p.D322D	LGI3_ENST00000424267.2_Silent_p.D298D	NM_139278.2	NP_644807.1	Q8N145	LGI3_HUMAN	leucine-rich repeat LGI family, member 3	322					exocytosis	cell junction|extracellular region|synaptic vesicle|synaptosome				endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	17				Colorectal(74;0.00189)|COAD - Colon adenocarcinoma(73;0.0612)|READ - Rectum adenocarcinoma(644;0.0999)		CGCGCTGCGGGTCAATGTCTT	0.612													16	16					0	0	1	0	0	A	22006354	G	A	22006354	2	1	383	1	0	0	0	0	0	0	0	1	8793	1252	44	2		2	LGI3	8	22006354	Silent	SNP	G	TCGA-QH-A6CV-01A-11D-A31L-08	13830523	22006354	124357668	31	32781											
PURG	29942	broad.mit.edu	37	8	30854163	30854163	+	Nonsense_Mutation	SNP	A	A	T			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr8:30854163A>T	ENST00000339382.2	-	2	1847	c.915T>A	c.(913-915)tgT>tgA	p.C305*		NM_001015508.1	NP_001015508.1	Q9UJV8	PURG_HUMAN	purine-rich element binding protein G	0						nucleus	DNA binding			endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(542;0.0895)|Kidney(114;0.108)		GCTTGATTTGACAACAGTGAA	0.338													14	46					0	0	1	0	0	T	30854163	A	T	30854163	4	4	383	1	0	0	0	0	0	1	0	0	12881	273	10	5	57	5	PURG	8	30854163	Nonsense_Mutation	SNP	A	TCGA-QH-A6CV-01A-11D-A31L-08	8847809	30854163	115509859	32	32782											
RB1CC1	9821	broad.mit.edu	37	8	53596200	53596200	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr8:53596200G>A	ENST00000025008.5	-	5	801	c.278C>T	c.(277-279)tCg>tTg	p.S93L	RB1CC1_ENST00000539297.1_Missense_Mutation_p.S93L|RB1CC1_ENST00000521611.1_Intron|RB1CC1_ENST00000435644.2_Missense_Mutation_p.S93L	NM_014781.4	NP_055596.3	Q8TDY2	RBCC1_HUMAN	RB1-inducible coiled-coil 1	93					autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	protein binding			NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				ATTTTCTGTCGAAAAGGTAGT	0.323													8	31					0	0	1	0	0	A	53596200	G	A	53596200	3	1	383	1	0	0	0	0	1	0	0	0	13151	1059	37	1	4586	1	RB1CC1	8	53596200	Missense_Mutation	SNP	G	TCGA-QH-A6CV-01A-11D-A31L-08	22742037	53596200	92767822	33	32783											
TBC1D2	55357	broad.mit.edu	37	9	100963794	100963794	+	Silent	SNP	C	C	A			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr9:100963794C>A	ENST00000375066.5	-	11	2515	c.2424G>T	c.(2422-2424)cgG>cgT	p.R808R	TBC1D2_ENST00000342112.5_Silent_p.R590R|TBC1D2_ENST00000375063.1_Silent_p.R348R|TBC1D2_ENST00000375064.1_Silent_p.R808R	NM_018421.3	NP_060891.3	Q9BYX2	TBD2A_HUMAN	TBC1 domain family, member 2	808	Rab-GAP TBC.					cell junction|cytoplasmic membrane-bounded vesicle|nucleus	Rab GTPase activator activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)		CATCCCAGACCCGAAGGAGGA	0.607													5	23					0.000602214	0.000615165	1	1	0	A	100963794	C	A	100963794	2	1	383	1	0	0	0	0	0	0	0	1	15665	610	22	5		5	TBC1D2	9	100963794	Silent	SNP	C	TCGA-QH-A6CV-01A-11D-A31L-08		100963794	40249637	34	32784											
OR1L8	138881	broad.mit.edu	37	9	125330260	125330260	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr9:125330260C>T	ENST00000304865.2	-	1	578	c.497G>A	c.(496-498)cGt>cAt	p.R166H		NM_001004454.1	NP_001004454.1	Q8NGR8	OR1L8_HUMAN	olfactory receptor, family 1, subfamily L, member 8	166					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						GAAGGTGAGACGATTCAGCAG	0.498													11	38					0	0	1	0	0	T	125330260	C	T	125330260	3	4	383	1	0	0	0	0	1	0	0	0	11015	536	19	1	436	1	OR1L8	9	125330260	Missense_Mutation	SNP	C	TCGA-QH-A6CV-01A-11D-A31L-08	24366466	125330260	15883171	35	32785											
INA	9118	broad.mit.edu	37	10	105037228	105037228	+	Missense_Mutation	SNP	A	A	G			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr10:105037228A>G	ENST00000369849.4	+	1	309	c.260A>G	c.(259-261)tAc>tGc	p.Y87C		NM_032727.3	NP_116116.1	Q16352	AINX_HUMAN	internexin neuronal intermediate filament protein, alpha	87	Head.				cell differentiation|nervous system development	neurofilament	structural constituent of cytoskeleton			breast(2)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)	13				Epithelial(162;3.45e-09)|all cancers(201;9.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198)		ACCAACGAGTACAAGATCATC	0.682													4	10					0	0	1	0	0	G	105037228	A	G	105037228	3	3	383	1	0	0	0	0	1	0	0	0	7774	391	14	3	262	3	INA	10	105037228	Missense_Mutation	SNP	A	TCGA-QH-A6CV-01A-11D-A31L-08		105037228	30497519	36	32786											
OR52M1	119772	broad.mit.edu	37	11	4566788	4566788	+	Missense_Mutation	SNP	A	A	C			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr11:4566788A>C	ENST00000360213.1	+	1	368	c.368A>C	c.(367-369)gAt>gCt	p.D123A		NM_001004137.1	NP_001004137.1	Q8NGK5	O52M1_HUMAN	olfactory receptor, family 52, subfamily M, member 1	123					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(2)|lung(9)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		ATGGCTTTTGATCGCTACGTG	0.537													29	29					0	0	1	0	0	C	4566788	A	C	4566788	3	2	383	1	0	0	0	0	1	0	0	0	11174	333	12	4	370	4	OR52M1	11	4566788	Missense_Mutation	SNP	A	TCGA-QH-A6CV-01A-11D-A31L-08		4566788	130439728	37	32787											
OR52E2	119678	broad.mit.edu	37	11	5080741	5080741	+	Silent	SNP	G	G	A			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr11:5080741G>A	ENST00000321522.2	-	1	116	c.117C>T	c.(115-117)atC>atT	p.I39I		NM_001005164.2	NP_001005164.2	Q8NGJ4	O52E2_HUMAN	olfactory receptor, family 52, subfamily E, member 2	39					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|lung(13)|ovary(2)|skin(3)	20		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.03e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.191)		CTATGAGTGCGATCATGTACA	0.512													5	30					0	0	1	0	0	A	5080741	G	A	5080741	2	1	383	1	0	0	0	0	0	0	0	1	11163	1048	37	1		1	OR52E2	11	5080741	Silent	SNP	G	TCGA-QH-A6CV-01A-11D-A31L-08	513953	5080741	129925775	38	32788											
HPS5	11234	broad.mit.edu	37	11	18309134	18309134	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr11:18309134C>T	ENST00000396253.3	-	17	2785	c.2323G>A	c.(2323-2325)Gag>Aag	p.E775K	HPS5_ENST00000349215.3_Missense_Mutation_p.E889K|HPS5_ENST00000438420.2_Missense_Mutation_p.E775K|HPS5_ENST00000352460.3_5'UTR	NM_007216.3	NP_009147.3	Q9UPZ3	HPS5_HUMAN	Hermansky-Pudlak syndrome 5	889						cytosol				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						GCCAAAAACTCAGCAGGATGA	0.428									Hermansky-Pudlak syndrome				15	46					0	0	1	0	0	T	18309134	C	T	18309134	3	4	383	1	0	0	0	0	1	0	0	0	7383	835	29	2	748	2	HPS5	11	18309134	Missense_Mutation	SNP	C	TCGA-QH-A6CV-01A-11D-A31L-08	13228393	18309134	116697382	39	32789											
PAMR1	25891	broad.mit.edu	37	11	35463135	35463135	+	Silent	SNP	G	G	A	rs150252565		TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr11:35463135G>A	ENST00000378880.2	-	7	1372	c.927C>T	c.(925-927)acC>acT	p.T309T	PAMR1_ENST00000278360.3_Silent_p.T326T|PAMR1_ENST00000532848.1_Silent_p.T269T|PAMR1_ENST00000378878.3_Silent_p.T198T	NM_001001991.1	NP_001001991.1	Q6UXH9	PAMR1_HUMAN	peptidase domain containing associated with muscle regeneration 1	309	Sushi 1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						AAGACACCACGGTGCCAATTT	0.493													19	83					0	0	1	0	0	A	35463135	G	A	35463135	2	1	383	1	0	0	0	0	0	0	0	1	11460	1103	39	1		1	PAMR1	11	35463135	Silent	SNP	G	TCGA-QH-A6CV-01A-11D-A31L-08	17154001	35463135	99543381	40	32790											
CWC15	51503	broad.mit.edu	37	11	94704160	94704160	+	Missense_Mutation	SNP	G	G	C			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr11:94704160G>C	ENST00000279839.6	-	4	436	c.314C>G	c.(313-315)gCa>gGa	p.A105G	CWC15_ENST00000545018.1_5'UTR	NM_016403.3	NP_057487.2	Q9P013	CWC15_HUMAN	CWC15 spliceosome-associated protein homolog (S. cerevisiae)	105					nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome	protein binding|RNA binding						Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				AGGGTCATCTGCATCAAGGTT	0.378													11	135					0	0	1	0	0	C	94704160	G	C	94704160	3	2	383	1	0	0	0	0	1	0	0	0	4090	1319	46	5	390	5	CWC15	11	94704160	Missense_Mutation	SNP	G	TCGA-QH-A6CV-01A-11D-A31L-08	59241025	94704160	40302356	41	32791											
ADAMTS15	170689	broad.mit.edu	37	11	130343448	130343448	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr11:130343448G>A	ENST00000299164.2	+	8	2585	c.2585G>A	c.(2584-2586)cGg>cAg	p.R862Q		NM_139055.2	NP_620686.1	Q8TE58	ATS15_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 15	862	TSP type-1 2.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1)	36	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)		CTGCAGAAGCGGGCGGTGGAC	0.746													19	25					0	0	1	0	0	A	130343448	G	A	130343448	3	1	383	1	0	0	0	0	1	0	0	0	259	1116	39	1	2615	1	ADAMTS15	11	130343448	Missense_Mutation	SNP	G	TCGA-QH-A6CV-01A-11D-A31L-08	35639288	130343448	4663068	42	32792											
NTF3	4908	broad.mit.edu	37	12	5603421	5603421	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr12:5603421G>A	ENST00000423158.3	+	2	292	c.80G>A	c.(79-81)cGt>cAt	p.R27H	NTF3_ENST00000535299.1_Intron|NTF3_ENST00000331010.6_Missense_Mutation_p.R14H	NM_001102654.1	NP_001096124.1	P20783	NTF3_HUMAN	neurotrophin 3	14					signal transduction	extracellular region	growth factor activity|neurotrophin receptor binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(3)|upper_aerodigestive_tract(1)	22						GCTTATCTCCGTGGCATCCAA	0.418													5	72					0	0	1	0	0	A	5603421	G	A	5603421	3	1	383	1	0	0	0	0	1	0	0	0	10744	1145	40	1	86	1	NTF3	12	5603421	Missense_Mutation	SNP	G	TCGA-QH-A6CV-01A-11D-A31L-08		5603421	128248474	43	32793											
CD163L1	283316	broad.mit.edu	37	12	7526068	7526068	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr12:7526068C>T	ENST00000313599.3	-	14	3635	c.3578G>A	c.(3577-3579)aGc>aAc	p.S1193N	CD163L1_ENST00000416109.2_Missense_Mutation_p.S1203N|CD163L1_ENST00000396630.1_Missense_Mutation_p.S1193N			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	1193	SRCR 11.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						AGGGGCGAGGCTGACAACTCC	0.552													27	90					0	0	1	0	0	T	7526068	C	T	7526068	3	4	383	1	0	0	0	0	1	0	0	0	2990	797	28	2	807	2	CD163L1	12	7526068	Missense_Mutation	SNP	C	TCGA-QH-A6CV-01A-11D-A31L-08	1922647	7526068	126325827	44	32794											
KLRB1	3820	broad.mit.edu	37	12	9760369	9760369	+	Missense_Mutation	SNP	G	G	T			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr12:9760369G>T	ENST00000229402.3	-	1	113	c.67C>A	c.(67-69)Cct>Act	p.P23T		NM_002258.2	NP_002249.1	Q12918	KLRB1_HUMAN	killer cell lectin-like receptor subfamily B, member 1	23					cell surface receptor linked signaling pathway	integral to membrane|plasma membrane	sugar binding|transmembrane receptor activity			endometrium(2)|large_intestine(6)|lung(4)	12						AGAGATGAAGGTGAAGAACTT	0.413													8	65					3.09899e-07	3.2352e-07	1	1	0	T	9760369	G	T	9760369	3	4	383	1	0	0	0	0	1	0	0	0	8457	1261	44	5	633	5	KLRB1	12	9760369	Missense_Mutation	SNP	G	TCGA-QH-A6CV-01A-11D-A31L-08	2234301	9760369	124091526	45	32795											
IGFBP6	3489	broad.mit.edu	37	12	53491737	53491737	+	Frame_Shift_Del	DEL	C	C	-			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr12:53491737delC	ENST00000548547.1	+	1	518	c.236delC	c.(235-237)gccfs	p.A79fs	IGFBP6_ENST00000301464.3_Frame_Shift_Del_p.A79fs			P24592	IBP6_HUMAN	insulin-like growth factor binding protein 6	79	IGFBP N-terminal.				negative regulation of cell proliferation|regulation of cell growth|signal transduction					large_intestine(1)|lung(3)|ovary(1)|pancreas(1)	6						CCTAACTGCGCCCCAGGACTG	0.726													2	4	---	---	---	---						-	53491737	C	-	53491737	7	5	383	1	0	1	0	1	0	0	0	0	7627	739	26	0	238	0	IGFBP6	12	53491737	Frame_Shift_Del	DEL	C	TCGA-QH-A6CV-01A-11D-A31L-08	43731368	53491737	80360158	46	32796											
RIMBP2	23504	broad.mit.edu	37	12	130919312	130919312	+	Silent	SNP	G	G	A			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr12:130919312G>A	ENST00000261655.4	-	11	2332	c.2169C>T	c.(2167-2169)gaC>gaT	p.D723D	RIMBP2_ENST00000535703.1_Silent_p.D631D|RIMBP2_ENST00000536002.1_Silent_p.D631D	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	723						cell junction|synapse				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		TCAGGAAGTCGTCCACCGAGG	0.667													20	119					0	0	1	0	0	A	130919312	G	A	130919312	2	1	383	1	0	0	0	0	0	0	0	1	13413	1136	40	1		1	RIMBP2	12	130919312	Silent	SNP	G	TCGA-QH-A6CV-01A-11D-A31L-08	77427575	130919312	2932583	47	32797											
PROZ	8858	broad.mit.edu	37	13	113819403	113819403	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr13:113819403G>A	ENST00000342783.4	+	7	615	c.608G>A	c.(607-609)cGt>cAt	p.R203H	PROZ_ENST00000493630.1_3'UTR|PROZ_ENST00000375547.2_Missense_Mutation_p.R181H|RP11-98F14.11_ENST00000600642.1_RNA	NM_001256134.1	NP_001243063.1	P22891	PROZ_HUMAN	protein Z, vitamin K-dependent plasma glycoprotein	181	Peptidase S1.				blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen	calcium ion binding|serine-type endopeptidase activity			NS(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(4)|prostate(2)|skin(2)	16	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.216)	all cancers(43;0.104)		Menadione(DB00170)	TCTGAGAAGCGTGCACCGGAT	0.507													5	31					0	0	1	0	0	A	113819403	G	A	113819403	3	1	383	1	0	0	0	0	1	0	0	0	12614	1145	40	1	564	1	PROZ	13	113819403	Missense_Mutation	SNP	G	TCGA-QH-A6CV-01A-11D-A31L-08		113819403	1350475	48	32798											
OR4K15	81127	broad.mit.edu	37	14	20444015	20444015	+	Missense_Mutation	SNP	G	G	A	rs139377821	by1000genomes	TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr14:20444015G>A	ENST00000305051.5	+	1	413	c.338G>A	c.(337-339)cGc>cAc	p.R113H		NM_001005486.1	NP_001005486.1	Q8NH41	OR4KF_HUMAN	olfactory receptor, family 4, subfamily K, member 15	113					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R113H(1)		endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|ovary(1)|prostate(2)|skin(1)|stomach(1)	39	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;3.58e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CTGGTTGAGCGCAAGACTATT	0.453													18	65					0	0	1	0	0	A	20444015	G	A	20444015	3	1	383	1	0	0	0	0	1	0	0	0	11118	1087	38	1	340	1	OR4K15	14	20444015	Missense_Mutation	SNP	G	TCGA-QH-A6CV-01A-11D-A31L-08		20444015	86905525	49	32799											
OCA2	4948	broad.mit.edu	37	15	28259949	28259949	+	Silent	SNP	C	C	T			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr15:28259949C>T	ENST00000354638.3	-	9	1172	c.1017G>A	c.(1015-1017)gcG>gcA	p.A339A	OCA2_ENST00000353809.5_Silent_p.A339A|OCA2_ENST00000382996.2_Silent_p.A339A	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II	339					eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		CGTAGACGCCCGCGAGGATGG	0.587									Oculocutaneous Albinism				14	30					0	0	1	0	0	T	28259949	C	T	28259949	2	4	383	1	0	0	0	0	0	0	0	1	10863	639	23	1		1	OCA2	15	28259949	Silent	SNP	C	TCGA-QH-A6CV-01A-11D-A31L-08		28259949	74271443	50	32800											
RASGRF1	5923	broad.mit.edu	37	15	79310181	79310181	+	Silent	SNP	C	C	T	rs146264269	by1000genomes	TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr15:79310181C>T	ENST00000419573.3	-	12	1948	c.1674G>A	c.(1672-1674)ccG>ccA	p.P558P	RASGRF1_ENST00000560334.1_5'UTR|RASGRF1_ENST00000558480.2_Silent_p.P558P	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	558	PH 2.				activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity	p.P558P(1)		breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						CTGTAAAGGGCGGGGAATCCT	0.512													27	49					0	0	1	0	0	T	79310181	C	T	79310181	2	4	383	1	0	0	0	0	0	0	0	1	13124	755	27	1		1	RASGRF1	15	79310181	Silent	SNP	C	TCGA-QH-A6CV-01A-11D-A31L-08	51050232	79310181	23221211	51	32801											
RSPRY1	89970	broad.mit.edu	37	16	57238591	57238591	+	Silent	SNP	C	C	T			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr16:57238591C>T	ENST00000537866.1	+	2	894	c.21C>T	c.(19-21)gcC>gcT	p.A7A	RSPRY1_ENST00000394420.4_Silent_p.A7A			Q96DX4	RSPRY_HUMAN	ring finger and SPRY domain containing 1	7						extracellular region	zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|urinary_tract(3)	27						TTGGTTGGGCCGTGTTCTTAG	0.463													36	189					0	0	1	0	0	T	57238591	C	T	57238591	2	4	383	1	0	0	0	0	0	0	0	1	13765	639	23	1		1	RSPRY1	16	57238591	Silent	SNP	C	TCGA-QH-A6CV-01A-11D-A31L-08		57238591	33116162	52	32802											
MINK1	50488	broad.mit.edu	37	17	4798523	4798523	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr17:4798523G>A	ENST00000355280.6	+	25	3267	c.3071G>A	c.(3070-3072)tGt>tAt	p.C1024Y	MINK1_ENST00000347992.7_Missense_Mutation_p.C995Y|MINK1_ENST00000453408.3_Missense_Mutation_p.C1004Y	NM_001024937.3|NM_015716.4|NM_153827.4	NP_001020108.1|NP_056531.1|NP_722549.2	Q8N4C8	MINK1_HUMAN	misshapen-like kinase 1	1024	CNH.|Mediates interaction with RAP2A.				JNK cascade	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)|stomach(1)	6						GAGATCCTCTGTGCAGCCCTT	0.597													13	38					0	0	1	0	0	A	4798523	G	A	4798523	3	1	383	1	0	0	0	0	1	0	0	0	9635	1377	48	2	2936	2	MINK1	17	4798523	Missense_Mutation	SNP	G	TCGA-QH-A6CV-01A-11D-A31L-08		4798523	76396687	53	32803											
DNAH2	146754	broad.mit.edu	37	17	7700732	7700732	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr17:7700732G>A	ENST00000572933.1	+	52	9424	c.7964G>A	c.(7963-7965)cGg>cAg	p.R2655Q	DNAH2_ENST00000389173.2_Missense_Mutation_p.R2655Q			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	2655					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TTCTCTGACCGGCTGGTTGAT	0.547													5	152					0	0	1	0	0	A	7700732	G	A	7700732	3	1	383	1	0	0	0	0	1	0	0	0	4630	1116	39	1	8166	1	DNAH2	17	7700732	Missense_Mutation	SNP	G	TCGA-QH-A6CV-01A-11D-A31L-08	2902209	7700732	73494478	54	32804											
SSH2	85464	broad.mit.edu	37	17	27959167	27959167	+	Silent	SNP	C	C	T			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr17:27959167C>T	ENST00000269033.3	-	15	3115	c.2964G>A	c.(2962-2964)agG>agA	p.R988R	RP11-68I3.2_ENST00000581474.1_RNA|SSH2_ENST00000540801.1_Silent_p.R1015R	NM_001282129.1|NM_033389.2	NP_001269058.1|NP_203747.2	Q76I76	SSH2_HUMAN	slingshot protein phosphatase 2	988					actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity		SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GAATCACAGTCCTCAGATCCT	0.517													8	28					0	0	1	0	0	T	27959167	C	T	27959167	2	4	383	1	0	0	0	0	0	0	0	1	15241	854	30	2		2	SSH2	17	27959167	Silent	SNP	C	TCGA-QH-A6CV-01A-11D-A31L-08	20258435	27959167	53236043	55	32805											
ACACA	31	broad.mit.edu	37	17	35641873	35641873	+	Splice_Site	SNP	T	T	C			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr17:35641873T>C	ENST00000353139.5	-	4	820		c.e4-2		ACACA_ENST00000416895.1_Splice_Site|ACACA_ENST00000335166.5_Splice_Site|ACACA_ENST00000360679.3_Splice_Site|ACACA_ENST00000394406.2_Splice_Site	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha						acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	ATGCTGGACCTATAAAAATAC	0.418													11	62					0	0	1	0	0	C	35641873	T	C	35641873	5	2	383	1	0	0	0	0	0	0	1	0	106	1536	53	3	7026	3	ACACA	17	35641873	Splice_Site	SNP	T	TCGA-QH-A6CV-01A-11D-A31L-08	7682706	35641873	45553337	56	32806											
KRT33A	3883	broad.mit.edu	37	17	39506828	39506828	+	Silent	SNP	G	G	A	rs144512034	byFrequency	TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr17:39506828G>A	ENST00000007735.3	-	1	236	c.192C>T	c.(190-192)aaC>aaT	p.N64N		NM_004138.3	NP_004129.2	O76009	KT33A_HUMAN	keratin 33A	64	Coil 1A.|Rod.					intermediate filament	protein binding|structural molecule activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	21		Breast(137;0.000496)				CCAGGCGGTCGTTCAGGAACT	0.622													5	104					0	0	1	0	0	A	39506828	G	A	39506828	2	1	383	1	0	0	0	0	0	0	0	1	8512	1136	40	1		1	KRT33A	17	39506828	Silent	SNP	G	TCGA-QH-A6CV-01A-11D-A31L-08	3864955	39506828	41688382	57	32807											
GRIN2C	2905	broad.mit.edu	37	17	72843053	72843053	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr17:72843053G>A	ENST00000293190.5	-	10	2154	c.2008C>T	c.(2008-2010)Cgg>Tgg	p.R670W	GRIN2C_ENST00000347612.4_Missense_Mutation_p.R670W	NM_000835.3	NP_000826.2	Q14957	NMDE3_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2C	670					glutamate signaling pathway	cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|N-methyl-D-aspartate selective glutamate receptor activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	33	all_lung(278;0.172)|Lung NSC(278;0.207)				Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)	TCTTGAGGCCGCTGAAACTGC	0.627													4	90					0	0	1	0	0	A	72843053	G	A	72843053	3	1	383	1	0	0	0	0	1	0	0	0	6822	1086	38	1	1709	1	GRIN2C	17	72843053	Missense_Mutation	SNP	G	TCGA-QH-A6CV-01A-11D-A31L-08	33336225	72843053	8352157	58	32808											
SERPINB12	89777	broad.mit.edu	37	18	61234092	61234092	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr18:61234092G>A	ENST00000382768.1	+	7	1126	c.1126G>A	c.(1126-1128)Ggt>Agt	p.G376S	SERPINB12_ENST00000269491.1_Missense_Mutation_p.G356S			Q96P63	SPB12_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 12	356					negative regulation of protein catabolic process|regulation of proteolysis	cytoplasm	enzyme binding|serine-type endopeptidase inhibitor activity			kidney(1)|large_intestine(5)|lung(19)|skin(1)	26						GGATGAAAACGGTACCCAGGC	0.458													11	33					0	0	1	0	0	A	61234092	G	A	61234092	3	1	383	1	0	0	0	0	1	0	0	0	14153	1116	39	1	1092	1	SERPINB12	18	61234092	Missense_Mutation	SNP	G	TCGA-QH-A6CV-01A-11D-A31L-08		61234092	16843156	59	32809											
RTTN	25914	broad.mit.edu	37	18	67817253	67817253	+	Nonsense_Mutation	SNP	C	C	T			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr18:67817253C>T	ENST00000255674.6	-	16	2412	c.2126G>A	c.(2125-2127)tGg>tAg	p.W709*	RTTN_ENST00000454359.1_Nonsense_Mutation_p.W709*|RTTN_ENST00000437017.1_Nonsense_Mutation_p.W709*	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	709							binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				AAACTTGTTCCAGGTCAATGC	0.428													6	47					0	0	1	0	0	T	67817253	C	T	67817253	4	4	383	1	0	0	0	0	0	1	0	0	13789	595	21	2	4690	2	RTTN	18	67817253	Nonsense_Mutation	SNP	C	TCGA-QH-A6CV-01A-11D-A31L-08	6583161	67817253	10259995	60	32810											
ZNF358	140467	broad.mit.edu	37	19	7585112	7585112	+	Silent	SNP	C	C	T			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr19:7585112C>T	ENST00000597229.1	+	2	1154	c.984C>T	c.(982-984)ttC>ttT	p.F328F	ZNF358_ENST00000394341.2_Silent_p.F328F|CTD-2207O23.11_ENST00000602083.1_RNA	NM_018083.4	NP_060553.4	Q9NW07	ZN358_HUMAN	zinc finger protein 358	328					embryonic forelimb morphogenesis|neural tube development|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|lung(1)|skin(2)	8						GCAAAGCCTTCGGGCAGAGCT	0.701													79	73					0	0	1	0	0	T	7585112	C	T	7585112	2	4	383	1	0	0	0	0	0	0	0	1	17924	883	31	1		1	ZNF358	19	7585112	Silent	SNP	C	TCGA-QH-A6CV-01A-11D-A31L-08		7585112	51543871	61	32811											
OR2Z1	284383	broad.mit.edu	37	19	8842045	8842045	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr19:8842045G>A	ENST00000324060.2	+	1	730	c.655G>A	c.(655-657)Ggc>Agc	p.G219S		NM_001004699.1	NP_001004699.1	Q8NG97	OR2Z1_HUMAN	olfactory receptor, family 2, subfamily Z, member 1	219					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CACCTCCTACGGCCACGTGTT	0.582													25	79					0	0	1	0	0	A	8842045	G	A	8842045	3	1	383	1	0	0	0	0	1	0	0	0	11084	1116	39	1	657	1	OR2Z1	19	8842045	Missense_Mutation	SNP	G	TCGA-QH-A6CV-01A-11D-A31L-08	1256933	8842045	50286938	62	32812											
SMARCA4	6597	broad.mit.edu	37	19	11143984	11143984	+	Missense_Mutation	SNP	C	C	G			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr19:11143984C>G	ENST00000358026.2	+	26	3849	c.3565C>G	c.(3565-3567)Cga>Gga	p.R1189G	SMARCA4_ENST00000413806.3_Missense_Mutation_p.R1189G|SMARCA4_ENST00000444061.3_Missense_Mutation_p.R1189G|SMARCA4_ENST00000344626.4_Missense_Mutation_p.R1189G|SMARCA4_ENST00000450717.3_Missense_Mutation_p.R1189G|SMARCA4_ENST00000429416.3_Missense_Mutation_p.R1189G|SMARCA4_ENST00000541122.2_Missense_Mutation_p.R1189G|SMARCA4_ENST00000590574.1_Missense_Mutation_p.R1189G|SMARCA4_ENST00000589677.1_Missense_Mutation_p.R1189G	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	1189	Helicase C-terminal.				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				AGCGCAGGACCGAGCCCACCG	0.612			"F, N, Mis"		NSCLC								4	88					0	0	1	0	0	G	11143984	C	G	11143984	3	3	383	1	0	0	0	0	1	0	0	0	14824	644	23	5	3663	5	SMARCA4	19	11143984	Missense_Mutation	SNP	C	TCGA-QH-A6CV-01A-11D-A31L-08	2301939	11143984	47984999	63	32813											
MAST1	22983	broad.mit.edu	37	19	12977470	12977470	+	Missense_Mutation	SNP	G	G	T			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr19:12977470G>T	ENST00000251472.4	+	18	2072	c.2033G>T	c.(2032-2034)cGc>cTc	p.R678L		NM_014975.2	NP_055790.1	Q9Y2H9	MAST1_HUMAN	microtubule associated serine/threonine kinase 1	678	AGC-kinase C-terminal.				cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						TCCCCAGCCCGCTCAGACAGG	0.592													14	18					1.05317e-09	1.12417e-09	1	1	0	T	12977470	G	T	12977470	3	4	383	1	0	0	0	0	1	0	0	0	9374	1087	38	5	2103	5	MAST1	19	12977470	Missense_Mutation	SNP	G	TCGA-QH-A6CV-01A-11D-A31L-08	1833486	12977470	46151513	64	32814											
CILP2	148113	broad.mit.edu	37	19	19654989	19654989	+	Silent	SNP	C	C	T			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr19:19654989C>T	ENST00000586018.1	+	8	1755	c.1653C>T	c.(1651-1653)gcC>gcT	p.A551A	CILP2_ENST00000291495.5_Silent_p.A545A			Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	545						proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						CTCGAGGTGCCGGCGTGTACC	0.612													18	91					0	0	1	0	0	T	19654989	C	T	19654989	2	4	383	1	0	0	0	0	0	0	0	1	3452	639	23	1		1	CILP2	19	19654989	Silent	SNP	C	TCGA-QH-A6CV-01A-11D-A31L-08	6677519	19654989	39473994	65	32815											
ZNF208	7757	broad.mit.edu	37	19	22171640	22171640	+	Silent	SNP	C	C	T			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr19:22171640C>T	ENST00000397126.4	-	2	223	c.75G>A	c.(73-75)caG>caA	p.Q25Q	ZNF208_ENST00000599916.1_Silent_p.Q25Q|ZNF208_ENST00000597040.1_5'UTR|ZNF208_ENST00000601773.1_Silent_p.Q25Q	NM_007153.3	NP_009084.2			zinc finger protein 208											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				ATAAATTCTGCTGTGCAGTGT	0.398													8	243					0	0	1	0	0	T	22171640	C	T	22171640	2	4	383	1	0	0	0	0	0	0	0	1	17824	796	28	2		2	ZNF208	19	22171640	Silent	SNP	C	TCGA-QH-A6CV-01A-11D-A31L-08	2516651	22171640	36957343	66	32816											
LIPE	3991	broad.mit.edu	37	19	42931121	42931121	+	Missense_Mutation	SNP	G	G	C			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr19:42931121G>C	ENST00000244289.4	-	1	457	c.181C>G	c.(181-183)Cag>Gag	p.Q61E	LIPE-AS1_ENST00000457234.2_RNA|LIPE-AS1_ENST00000593740.2_RNA|LIPE-AS1_ENST00000594688.1_RNA|LIPE-AS1_ENST00000597203.1_RNA|LIPE-AS1_ENST00000594624.2_RNA	NM_005357.2	NP_005348.2	Q05469	LIPS_HUMAN	lipase, hormone-sensitive	61					cholesterol metabolic process|protein phosphorylation|triglyceride catabolic process	caveola|cytosol	hormone-sensitive lipase activity|protein binding			breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		Prostate(69;0.00682)				GGGGTCTCCTGCTGGGTGAGG	0.527													5	188					0	0	1	0	0	C	42931121	G	C	42931121	3	2	383	1	0	0	0	0	1	0	0	0	8862	1328	46	5	3089	5	LIPE	19	42931121	Missense_Mutation	SNP	G	TCGA-QH-A6CV-01A-11D-A31L-08	20759481	42931121	16197862	67	32817											
GLTSCR1	29998	broad.mit.edu	37	19	48197800	48197800	+	Silent	SNP	C	C	T			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr19:48197800C>T	ENST00000396720.3	+	8	2906	c.2712C>T	c.(2710-2712)tcC>tcT	p.S904S	CTD-2571L23.8_ENST00000599924.1_lincRNA	NM_015711.3	NP_056526.3	Q9NZM4	GSCR1_HUMAN	glioma tumor suppressor candidate region gene 1	904							protein binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|pancreas(3)|prostate(4)|skin(2)	20		all_cancers(25;1.8e-07)|all_lung(116;5.73e-06)|Lung NSC(112;9.69e-06)|all_epithelial(76;2.42e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		all cancers(93;0.000358)|OV - Ovarian serous cystadenocarcinoma(262;0.000576)|Epithelial(262;0.0212)|GBM - Glioblastoma multiforme(486;0.0355)		CTACGCCATCCGACTTCCAGC	0.701													31	43					0	0	1	0	0	T	48197800	C	T	48197800	2	4	383	1	0	0	0	0	0	0	0	1	6516	639	23	1		1	GLTSCR1	19	48197800	Silent	SNP	C	TCGA-QH-A6CV-01A-11D-A31L-08	5266679	48197800	10931183	68	32818											
PPFIA3	8541	broad.mit.edu	37	19	49636260	49636260	+	Silent	SNP	G	G	A			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr19:49636260G>A	ENST00000334186.4	+	8	1231	c.882G>A	c.(880-882)gcG>gcA	p.A294A	PPFIA3_ENST00000602351.1_Silent_p.A294A	NM_003660.2	NP_003651.1	O75145	LIPA3_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3	294						cell surface|cytoplasm	protein binding			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(16)|pancreas(1)|prostate(1)|skin(4)|urinary_tract(1)	35		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)		CTCCGCAGGCGCTGGCGCAGC	0.647													4	22					0	0	1	0	0	A	49636260	G	A	49636260	2	1	383	1	0	0	0	0	0	0	0	1	12356	1074	38	1		1	PPFIA3	19	49636260	Silent	SNP	G	TCGA-QH-A6CV-01A-11D-A31L-08	1438460	49636260	9492723	69	32819											
SIGLEC11	114132	broad.mit.edu	37	19	50455562	50455562	+	Missense_Mutation	SNP	C	C	T	rs140702198	byFrequency	TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr19:50455562C>T	ENST00000447370.2	-	9	1831	c.1741G>A	c.(1741-1743)Gtc>Atc	p.V581I	CTC-326K19.6_ENST00000451973.1_Intron|SIGLEC11_ENST00000426971.2_Missense_Mutation_p.V485I	NM_052884.2	NP_443116.2	Q96RL6	SIG11_HUMAN	sialic acid binding Ig-like lectin 11	581					cell adhesion	integral to membrane	sugar binding	p.V569I(1)|p.V581I(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1)	32		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517)		TACCTGAAGACGACAAGGCAG	0.622													14	118					0	0	1	0	0	T	50455562	C	T	50455562	3	4	383	1	0	0	0	0	1	0	0	0	14362	536	19	1	367	1	SIGLEC11	19	50455562	Missense_Mutation	SNP	C	TCGA-QH-A6CV-01A-11D-A31L-08	819302	50455562	8673421	70	32820											
SIGLEC6	946	broad.mit.edu	37	19	52033760	52033760	+	Missense_Mutation	SNP	G	G	A	rs148934624	by1000genomes	TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr19:52033760G>A	ENST00000359982.4	-	4	863	c.718C>T	c.(718-720)Cgg>Tgg	p.R240W	SIGLEC6_ENST00000343300.4_Intron|SIGLEC6_ENST00000425629.3_Intron|SIGLEC6_ENST00000346477.3_Intron|SIGLEC6_ENST00000436458.1_Intron|SIGLEC6_ENST00000391797.3_Intron	NM_001177548.1	NP_001171019.1	O43699	SIGL6_HUMAN	sialic acid binding Ig-like lectin 6	236	Ig-like C2-type 2.				cell adhesion|cell-cell signaling	cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus				endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1)	28		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)		AGAGGTGGCCGCCTCAACATC	0.582													4	47					0	0	1	0	0	A	52033760	G	A	52033760	3	1	383	1	0	0	0	0	1	0	0	0	14367	1086	38	1	696	1	SIGLEC6	19	52033760	Missense_Mutation	SNP	G	TCGA-QH-A6CV-01A-11D-A31L-08	1578198	52033760	7095223	71	32821											
DLGAP4	22839	broad.mit.edu	37	20	35060649	35060649	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr20:35060649G>A	ENST00000373913.3	+	3	1009	c.529G>A	c.(529-531)Ggc>Agc	p.G177S	DLGAP4_ENST00000339266.5_Missense_Mutation_p.G177S|DLGAP4_ENST00000373907.2_Missense_Mutation_p.G177S|DLGAP4_ENST00000401952.2_Missense_Mutation_p.G177S			Q9Y2H0	DLGP4_HUMAN	discs, large (Drosophila) homolog-associated protein 4	177					cell-cell signaling	membrane	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				CATGGAGGACGGCAAGGGCCG	0.642													6	88					0	0	1	0	0	A	35060649	G	A	35060649	3	1	383	1	0	0	0	0	1	0	0	0	4590	1116	39	1	531	1	DLGAP4	20	35060649	Missense_Mutation	SNP	G	TCGA-QH-A6CV-01A-11D-A31L-08		35060649	27964871	72	32822											
KCNG1	3755	broad.mit.edu	37	20	49626567	49626567	+	Silent	SNP	G	G	A			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr20:49626567G>A	ENST00000371571.4	-	2	594	c.309C>T	c.(307-309)aaC>aaT	p.N103N	KCNG1_ENST00000396017.3_Silent_p.N103N	NM_002237.3	NP_002228.2	Q9UIX4	KCNG1_HUMAN	potassium voltage-gated channel, subfamily G, member 1	103						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						CATCGCACACGTTGAGGATGT	0.637													10	63					0	0	1	0	0	A	49626567	G	A	49626567	2	1	383	1	0	0	0	0	0	0	0	1	8071	1136	40	1		1	KCNG1	20	49626567	Silent	SNP	G	TCGA-QH-A6CV-01A-11D-A31L-08	14565918	49626567	13398953	73	32823											
UBASH3A	53347	broad.mit.edu	37	21	43838610	43838610	+	Missense_Mutation	SNP	C	C	A			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr21:43838610C>A	ENST00000319294.6	+	7	969	c.938C>A	c.(937-939)gCc>gAc	p.A313D	UBASH3A_ENST00000291535.6_Missense_Mutation_p.A275D|UBASH3A_ENST00000398367.1_Missense_Mutation_p.A275D	NM_018961.3	NP_061834.1	P57075	UBS3A_HUMAN	ubiquitin associated and SH3 domain containing A	313	SH3.					cytosol|nucleus				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(9)|lung(12)|ovary(3)	28						CAGGACGAAGCCAGCGAGGGC	0.597													9	57					1.12685e-05	1.1636e-05	1	1	0	A	43838610	C	A	43838610	3	1	383	1	0	0	0	0	1	0	0	0	16900	739	26	5	964	5	UBASH3A	21	43838610	Missense_Mutation	SNP	C	TCGA-QH-A6CV-01A-11D-A31L-08		43838610	4291285	74	32824											
SLC5A1	6523	broad.mit.edu	37	22	32479071	32479071	+	Silent	SNP	G	G	A			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr22:32479071G>A	ENST00000266088.4	+	7	844	c.594G>A	c.(592-594)gcG>gcA	p.A198A	SLC5A1_ENST00000543737.1_Silent_p.A71A	NM_000343.3	NP_000334.1	P13866	SC5A1_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 1	198					carbohydrate metabolic process	integral to plasma membrane	glucose:sodium symporter activity|protein binding	p.A198A(1)		NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	37						GGGGCCTGGCGGCGGTGATTT	0.572													15	6					0	0	1	0	0	A	32479071	G	A	32479071	2	1	383	1	0	0	0	0	0	0	0	1	14716	1103	39	1		1	SLC5A1	22	32479071	Silent	SNP	G	TCGA-QH-A6CV-01A-11D-A31L-08		32479071	18825495	75	32825											
NCF4	4689	broad.mit.edu	37	22	37266498	37266498	+	Silent	SNP	C	C	T	rs144105468		TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr22:37266498C>T	ENST00000397147.4	+	5	568	c.384C>T	c.(382-384)gaC>gaT	p.D128D	NCF4_ENST00000248899.6_Silent_p.D128D	NM_013416.3	NP_038202.2	Q15080	NCF4_HUMAN	neutrophil cytosolic factor 4, 40kDa	128	PX.				cell communication|immune response|oxidation-reduction process	cytosol|NADPH oxidase complex	phosphatidylinositol binding|protein dimerization activity			cervix(1)|endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16						TGGATGAGGACGTCCGGATCT	0.622													50	19					0	0	1	0	0	T	37266498	C	T	37266498	2	4	383	1	0	0	0	0	0	0	0	1	10265	535	19	1		1	NCF4	22	37266498	Silent	SNP	C	TCGA-QH-A6CV-01A-11D-A31L-08	4787427	37266498	14038068	76	32826											
TTLL8	164714	broad.mit.edu	37	22	50480124	50480124	+	Silent	SNP	C	C	T			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr22:50480124C>T	ENST00000266182.6	-	7	755	c.756G>A	c.(754-756)acG>acA	p.T252T	TTLL8_ENST00000440475.1_Silent_p.T252T					tubulin tyrosine ligase-like family, member 8											NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(4)	12		all_cancers(38;3.44e-07)|all_epithelial(38;2.44e-06)|all_lung(38;0.00141)|Breast(42;0.00519)|Lung NSC(38;0.0199)|Ovarian(80;0.142)|Lung SC(80;0.162)		READ - Rectum adenocarcinoma(2;0.000882)|Colorectal(2;0.00311)|BRCA - Breast invasive adenocarcinoma(115;0.226)		CATCTGCTGACGTGTCGATGT	0.632													9	6					0	0	1	0	0	T	50480124	C	T	50480124	2	4	383	1	0	0	0	0	0	0	0	1	16795	523	19	1		1	TTLL8	22	50480124	Silent	SNP	C	TCGA-QH-A6CV-01A-11D-A31L-08	13213626	50480124	824442	77	32827											
CPXCR1	53336	broad.mit.edu	37	X	88008525	88008525	+	Missense_Mutation	SNP	A	A	C			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chrX:88008525A>C	ENST00000276127.4	+	3	369	c.110A>C	c.(109-111)gAt>gCt	p.D37A	CPXCR1_ENST00000373111.1_Missense_Mutation_p.D37A	NM_033048.5	NP_149037	Q8N123	CPXCR_HUMAN	CPX chromosome region, candidate 1	37						intracellular	zinc ion binding			NS(1)|cervix(1)|kidney(1)|large_intestine(11)|liver(1)|lung(20)|ovary(3)|upper_aerodigestive_tract(2)	40						CCATCTGCTGATCCCAATATG	0.443													9	5					0	0	1	0	0	C	88008525	A	C	88008525	3	2	383	1	0	0	0	0	1	0	0	0	3859	333	12	4	112	4	CPXCR1	23	88008525	Missense_Mutation	SNP	A	TCGA-QH-A6CV-01A-11D-A31L-08		88008525	67262035	78	32828											
USP26	83844	broad.mit.edu	37	X	132162098	132162098	+	Missense_Mutation	SNP	G	G	A	rs146792106	byFrequency	TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chrX:132162098G>A	ENST00000511190.1	-	6	620	c.151C>T	c.(151-153)Cgg>Tgg	p.R51W	USP26_ENST00000406273.1_Missense_Mutation_p.R51W|USP26_ENST00000370832.1_Missense_Mutation_p.R51W	NM_031907.1	NP_114113.1	Q9BXU7	UBP26_HUMAN	ubiquitin specific peptidase 26	51					protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60	Acute lymphoblastic leukemia(192;0.000127)					TCACTTAGCCGAAAAGTGCTA	0.318													7	28					0	0	1	0	0	A	132162098	G	A	132162098	3	1	383	1	0	0	0	0	1	0	0	0	17117	1057	37	1	2593	1	USP26	23	132162098	Missense_Mutation	SNP	G	TCGA-QH-A6CV-01A-11D-A31L-08	44153573	132162098	23108462	79	32829											
C1orf168	199920	broad.mit.edu	37	1	57219575	57219575	+	Frame_Shift_Del	DEL	T	T	-			TCGA-QH-A6CW-01A-11D-A32B-08	TCGA-QH-A6CW-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbd92bcc-4d34-4586-96c0-90bb8b7431f8	49042d83-e264-4d8a-8b35-d842cc7b767f	g.chr1:57219575delT	ENST00000343433.6	-	8	1244	c.1164delA	c.(1162-1164)aaafs	p.K388fs	C1orf168_ENST00000484327.1_Intron	NM_001004303.4	NP_001004303.3	Q5VWT5	CA168_HUMAN	chromosome 1 open reading frame 168	388										NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2)	46						CACATGGTTGTTTTTCCTTCA	0.333													11	44	---	---	---	---						-	57219575	T	-	57219575	7	5	384	1	0	1	0	1	0	0	0	0	2025	1722	60	0	1074	0	C1orf168	1	57219575	Frame_Shift_Del	DEL	T	TCGA-QH-A6CW-01A-11D-A32B-08		57219575	192031046	1	32830											
LPAR3	23566	broad.mit.edu	37	1	85331619	85331619	+	Missense_Mutation	SNP	T	T	G			TCGA-QH-A6CW-01A-11D-A32B-08	TCGA-QH-A6CW-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbd92bcc-4d34-4586-96c0-90bb8b7431f8	49042d83-e264-4d8a-8b35-d842cc7b767f	g.chr1:85331619T>G	ENST00000440886.1	-	1	223	c.185A>C	c.(184-186)cAt>cCt	p.H62P	LPAR3_ENST00000491034.1_5'UTR|LPAR3_ENST00000370611.3_Missense_Mutation_p.H62P			Q9UBY5	LPAR3_HUMAN	lysophosphatidic acid receptor 3	62					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane|intracellular membrane-bounded organelle				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|urinary_tract(1)	24						GAAGGGGAAATGAAATTTTCT	0.393													39	55					0	0	1	0	0	G	85331619	T	G	85331619	3	3	384	1	0	0	0	0	1	0	0	0	8951	1464	51	4	884	4	LPAR3	1	85331619	Missense_Mutation	SNP	T	TCGA-QH-A6CW-01A-11D-A32B-08	28112044	85331619	163919002	2	32831											
GNAI3	2773	broad.mit.edu	37	1	110128908	110128908	+	Missense_Mutation	SNP	A	A	G			TCGA-QH-A6CW-01A-11D-A32B-08	TCGA-QH-A6CW-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbd92bcc-4d34-4586-96c0-90bb8b7431f8	49042d83-e264-4d8a-8b35-d842cc7b767f	g.chr1:110128908A>G	ENST00000369851.4	+	6	771	c.661A>G	c.(661-663)Att>Gtt	p.I221V		NM_006496.3	NP_006487.1	P08754	GNAI3_HUMAN	guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 3	221					cell cycle|cell division|inhibition of adenylate cyclase activity by G-protein signaling pathway|platelet activation|synaptic transmission	centrosome|heterotrimeric G-protein complex|midbody	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|metabotropic serotonin receptor binding|signal transducer activity			NS(1)|endometrium(2)|kidney(1)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	12		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.046)|Colorectal(144;0.119)|Epithelial(280;0.139)|all cancers(265;0.147)|LUSC - Lung squamous cell carcinoma(189;0.237)		AGTGACAGCAATTATCTTCTG	0.458													12	117					0	0	1	0	0	G	110128908	A	G	110128908	3	3	384	1	0	0	0	0	1	0	0	0	6548	101	4	3	683	3	GNAI3	1	110128908	Missense_Mutation	SNP	A	TCGA-QH-A6CW-01A-11D-A32B-08	24797289	110128908	139121713	3	32832											
DENND2C	163259	broad.mit.edu	37	1	115137092	115137092	+	Splice_Site	SNP	A	A	T			TCGA-QH-A6CW-01A-11D-A32B-08	TCGA-QH-A6CW-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbd92bcc-4d34-4586-96c0-90bb8b7431f8	49042d83-e264-4d8a-8b35-d842cc7b767f	g.chr1:115137092A>T	ENST00000393274.1	-	18	3057		c.e18+1		DENND2C_ENST00000481894.1_Splice_Site|DENND2C_ENST00000393276.3_Splice_Site|DENND2C_ENST00000393277.1_Splice_Site	NM_001256404.1	NP_001243333.1	Q68D51	DEN2C_HUMAN	DENN/MADD domain containing 2C											NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3)	37	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTTGTCTCATACCTTGTGAAA	0.383													5	57					0	0	1	0	0	T	115137092	A	T	115137092	5	4	384	1	0	0	0	0	0	0	1	0	4458	405	14	5	369	5	DENND2C	1	115137092	Splice_Site	SNP	A	TCGA-QH-A6CW-01A-11D-A32B-08	5008184	115137092	134113529	4	32833											
IGSF3	3321	broad.mit.edu	37	1	117131325	117131325	+	Missense_Mutation	SNP	T	T	C			TCGA-QH-A6CW-01A-11D-A32B-08	TCGA-QH-A6CW-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbd92bcc-4d34-4586-96c0-90bb8b7431f8	49042d83-e264-4d8a-8b35-d842cc7b767f	g.chr1:117131325T>C	ENST00000369486.3	-	8	3196	c.2431A>G	c.(2431-2433)Aaa>Gaa	p.K811E	IGSF3_ENST00000318837.6_Missense_Mutation_p.K831E|IGSF3_ENST00000369483.1_Missense_Mutation_p.K831E	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3	811						integral to membrane				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		CCTGGCTGTTTCACAGTGACT	0.632													14	15					0	0	1	0	0	C	117131325	T	C	117131325	3	2	384	1	0	0	0	0	1	0	0	0	7645	1792	62	3	1169	3	IGSF3	1	117131325	Missense_Mutation	SNP	T	TCGA-QH-A6CW-01A-11D-A32B-08	1994233	117131325	132119296	5	32834											
SGOL2	151246	broad.mit.edu	37	2	201437735	201437735	+	Missense_Mutation	SNP	A	A	G			TCGA-QH-A6CW-01A-11D-A32B-08	TCGA-QH-A6CW-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbd92bcc-4d34-4586-96c0-90bb8b7431f8	49042d83-e264-4d8a-8b35-d842cc7b767f	g.chr2:201437735A>G	ENST00000357799.4	+	7	2764	c.2666A>G	c.(2665-2667)tAt>tGt	p.Y889C		NM_001160033.1|NM_001160046.1|NM_152524.5	NP_001153505.1|NP_001153518.1|NP_689737.4	Q562F6	SGOL2_HUMAN	shugoshin-like 2 (S. pombe)	889					cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol|mitotic cohesin complex	protein binding			NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						TTGAAAAAGTATGTTACTGAT	0.303													45	41					0	0	1	0	0	G	201437735	A	G	201437735	3	3	384	1	0	0	0	0	1	0	0	0	14271	449	16	3	2688	3	SGOL2	2	201437735	Missense_Mutation	SNP	A	TCGA-QH-A6CW-01A-11D-A32B-08		201437735	41761638	6	32835											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-QH-A6CW-01A-11D-A32B-08	TCGA-QH-A6CW-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbd92bcc-4d34-4586-96c0-90bb8b7431f8	49042d83-e264-4d8a-8b35-d842cc7b767f	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								22	24					0	0	1	0	0	T	209113112	C	T	209113112	3	4	384	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-QH-A6CW-01A-11D-A32B-08	7675377	209113112	34086261	7	32836											
GNAI2	2771	broad.mit.edu	37	3	50294410	50294412	+	In_Frame_Del	DEL	CAA	CAA	-			TCGA-QH-A6CW-01A-11D-A32B-08	TCGA-QH-A6CW-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbd92bcc-4d34-4586-96c0-90bb8b7431f8	49042d83-e264-4d8a-8b35-d842cc7b767f	g.chr3:50294410_50294412delCAA	ENST00000313601.6	+	7	1149_1151	c.765_767delCAA	c.(763-768)tgcaac>tgc	p.N257del	GNAI2_ENST00000451956.1_In_Frame_Del_p.N220del|GNAI2_ENST00000422163.1_In_Frame_Del_p.N241del|GNAI2_ENST00000266027.5_In_Frame_Del_p.N241del|GNAI2_ENST00000536647.1_In_Frame_Del_p.N176del|GNAI2_ENST00000491100.1_3'UTR|GNAI2_ENST00000440628.1_In_Frame_Del_p.N205del	NM_002070.2	NP_002061.1	P04899	GNAI2_HUMAN	guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 2	257					adenosine receptor signaling pathway|cell cycle|cell division|gamma-aminobutyric acid signaling pathway|inhibition of adenylate cyclase activity by G-protein signaling pathway|negative regulation of calcium ion transport via voltage-gated calcium channel activity|platelet activation|response to nutrient|synaptic transmission	centrosome|heterotrimeric G-protein complex|midbody	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|liver(2)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;0.000288)|KIRC - Kidney renal clear cell carcinoma(197;0.00571)|Kidney(197;0.00651)		ATAGCATCTGCAACAACAAGTGG	0.532											OREG0015582	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	79	---	---	---	---						-	50294412	CAA	-	50294410	7	5	384	1	0	1	0	1	0	0	0	0	6547	718	25	0	802	0	GNAI2	3	50294410	In_Frame_Del	DEL	CAA	TCGA-QH-A6CW-01A-11D-A32B-08		50294410	147728020	8	32837											
CRYBG3	131544	broad.mit.edu	37	3	97596432	97596432	+	Missense_Mutation	SNP	G	G	C			TCGA-QH-A6CW-01A-11D-A32B-08	TCGA-QH-A6CW-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbd92bcc-4d34-4586-96c0-90bb8b7431f8	49042d83-e264-4d8a-8b35-d842cc7b767f	g.chr3:97596432G>C	ENST00000182096.4	+	1	614	c.550G>C	c.(550-552)Gaa>Caa	p.E184Q		NM_153605.3	NP_705833.3			beta-gamma crystallin domain containing 3											breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(10)|stomach(1)|upper_aerodigestive_tract(2)	32						GTCAGTGTCAGAACGTTTAAA	0.458													3	48					0	0	1	0	0	C	97596432	G	C	97596432	3	2	384	1	0	0	0	0	1	0	0	0	3936	943	33	4	552	4	CRYBG3	3	97596432	Missense_Mutation	SNP	G	TCGA-QH-A6CW-01A-11D-A32B-08	47302022	97596432	100425998	9	32838											
BBX	56987	broad.mit.edu	37	3	107491781	107491781	+	Missense_Mutation	SNP	C	C	G			TCGA-QH-A6CW-01A-11D-A32B-08	TCGA-QH-A6CW-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbd92bcc-4d34-4586-96c0-90bb8b7431f8	49042d83-e264-4d8a-8b35-d842cc7b767f	g.chr3:107491781C>G	ENST00000415149.2	+	11	1540	c.1213C>G	c.(1213-1215)Cat>Gat	p.H405D	BBX_ENST00000406780.1_Missense_Mutation_p.H405D|BBX_ENST00000325805.8_Missense_Mutation_p.H405D|BBX_ENST00000402543.1_Missense_Mutation_p.H405D|BBX_ENST00000416476.2_Intron	NM_001142568.1|NM_020235.5	NP_001136040.1|NP_064620.2	Q8WY36	BBX_HUMAN	bobby sox homolog (Drosophila)	405					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(18)|ovary(4)|pancreas(1)|skin(2)	49			OV - Ovarian serous cystadenocarcinoma(3;0.112)			CAAATGTAGTCATTTTCCTGA	0.328													7	65					0	0	1	0	0	G	107491781	C	G	107491781	3	3	384	1	0	0	0	0	1	0	0	0	1341	826	29	5	1243	5	BBX	3	107491781	Missense_Mutation	SNP	C	TCGA-QH-A6CW-01A-11D-A32B-08	9895349	107491781	90530649	10	32839											
HGD	3081	broad.mit.edu	37	3	120352005	120352005	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A6CW-01A-11D-A32B-08	TCGA-QH-A6CW-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbd92bcc-4d34-4586-96c0-90bb8b7431f8	49042d83-e264-4d8a-8b35-d842cc7b767f	g.chr3:120352005C>T	ENST00000283871.5	-	13	1636	c.1177G>A	c.(1177-1179)Gat>Aat	p.D393N		NM_000187.3	NP_000178.2	Q93099	HGD_HUMAN	homogentisate 1,2-dioxygenase	393					L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	homogentisate 1,2-dioxygenase activity|metal ion binding			cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)	25				GBM - Glioblastoma multiforme(114;0.158)		ATGGTGCCATCGGCAATCCTC	0.547													8	27					0	0	1	0	0	T	120352005	C	T	120352005	3	4	384	1	0	0	0	0	1	0	0	0	7125	884	31	1	168	1	HGD	3	120352005	Missense_Mutation	SNP	C	TCGA-QH-A6CW-01A-11D-A32B-08	12860224	120352005	77670425	11	32840											
COL6A5	256076	broad.mit.edu	37	3	130188154	130188154	+	Nonsense_Mutation	SNP	C	C	T			TCGA-QH-A6CW-01A-11D-A32B-08	TCGA-QH-A6CW-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbd92bcc-4d34-4586-96c0-90bb8b7431f8	49042d83-e264-4d8a-8b35-d842cc7b767f	g.chr3:130188154C>T	ENST00000265379.6	+	38	7800	c.7306C>T	c.(7306-7308)Caa>Taa	p.Q2436*	COL6A5_ENST00000432398.2_Nonsense_Mutation_p.Q2436*			A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	2436	Nonhelical region.|VWFA 10.				axon guidance|cell adhesion	collagen				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						AGCCAAGTGTCAAGGCTACTC	0.408													4	29					0	0	1	0	0	T	130188154	C	T	130188154	4	4	384	1	0	0	0	0	0	1	0	0	3725	827	29	2	7452	2	COL6A5	3	130188154	Nonsense_Mutation	SNP	C	TCGA-QH-A6CW-01A-11D-A32B-08	9836149	130188154	67834276	12	32841											
MECOM	2122	broad.mit.edu	37	3	168812874	168812874	+	Silent	SNP	C	C	T			TCGA-QH-A6CW-01A-11D-A32B-08	TCGA-QH-A6CW-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbd92bcc-4d34-4586-96c0-90bb8b7431f8	49042d83-e264-4d8a-8b35-d842cc7b767f	g.chr3:168812874C>T	ENST00000464456.1	-	11	3618	c.2418G>A	c.(2416-2418)ggG>ggA	p.G806G	MECOM_ENST00000433243.2_Silent_p.G816G|MECOM_ENST00000468789.1_Silent_p.G815G|MECOM_ENST00000264674.3_Silent_p.G880G|MECOM_ENST00000472280.1_Silent_p.G816G|MECOM_ENST00000460814.1_Silent_p.G806G|MECOM_ENST00000494292.1_Silent_p.G994G|MECOM_ENST00000392736.3_Silent_p.G815G	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						CGGACATGTTCCCATTCTCAT	0.318													5	10					0	0	1	0	0	T	168812874	C	T	168812874	2	4	384	1	0	0	0	0	0	0	0	1	9472	842	30	2		2	MECOM	3	168812874	Silent	SNP	C	TCGA-QH-A6CW-01A-11D-A32B-08	38624720	168812874	29209556	13	32842											
PPEF2	5470	broad.mit.edu	37	4	76794286	76794286	+	Missense_Mutation	SNP	G	G	C			TCGA-QH-A6CW-01A-11D-A32B-08	TCGA-QH-A6CW-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbd92bcc-4d34-4586-96c0-90bb8b7431f8	49042d83-e264-4d8a-8b35-d842cc7b767f	g.chr4:76794286G>C	ENST00000286719.7	-	12	1856	c.1500C>G	c.(1498-1500)aaC>aaG	p.N500K		NM_006239.2	NP_006230.2	O14830	PPE2_HUMAN	protein phosphatase, EF-hand calcium binding domain 2	500	Catalytic.				detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception	cytoplasm|photoreceptor inner segment|photoreceptor outer segment	calcium ion binding|Hsp70 protein binding|Hsp90 protein binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	50			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			CCACCTTGCGGTTGTGACAGA	0.488													15	32					0	0	1	0	0	C	76794286	G	C	76794286	3	2	384	1	0	0	0	0	1	0	0	0	12353	1252	44	5	785	5	PPEF2	4	76794286	Missense_Mutation	SNP	G	TCGA-QH-A6CW-01A-11D-A32B-08		76794286	114359990	14	32843											
DCHS2	54798	broad.mit.edu	37	4	155287481	155287481	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A6CW-01A-11D-A32B-08	TCGA-QH-A6CW-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbd92bcc-4d34-4586-96c0-90bb8b7431f8	49042d83-e264-4d8a-8b35-d842cc7b767f	g.chr4:155287481G>A	ENST00000357232.4	-	5	574	c.575C>T	c.(574-576)cCa>cTa	p.P192L	DCHS2_ENST00000339452.1_Missense_Mutation_p.P786L	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2		Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		CTCGGTGCCTGGCTGGGTCTC	0.493													8	29					0	0	1	0	0	A	155287481	G	A	155287481	3	1	384	1	0	0	0	0	1	0	0	0	4311	1348	47	2	8355	2	DCHS2	4	155287481	Missense_Mutation	SNP	G	TCGA-QH-A6CW-01A-11D-A32B-08	78493195	155287481	35866795	15	32844											
PRPF4B	8899	broad.mit.edu	37	6	4037671	4037671	+	Missense_Mutation	SNP	T	T	G			TCGA-QH-A6CW-01A-11D-A32B-08	TCGA-QH-A6CW-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbd92bcc-4d34-4586-96c0-90bb8b7431f8	49042d83-e264-4d8a-8b35-d842cc7b767f	g.chr6:4037671T>G	ENST00000337659.6	+	3	1379	c.1279T>G	c.(1279-1281)Tca>Gca	p.S427A	PRPF4B_ENST00000538861.1_Missense_Mutation_p.S413A	NM_003913.4	NP_003904.3	Q13523	PRP4B_HUMAN	pre-mRNA processing factor 4B	427	Arg/Lys-rich (basic).					catalytic step 2 spliceosome	ATP binding|protein binding|protein serine/threonine kinase activity			breast(6)|endometrium(3)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	22	Ovarian(93;0.0925)	all_hematologic(90;0.0895)				ACGTGAAAGATCAAAAGATGC	0.413													22	26					0	0	1	0	0	G	4037671	T	G	4037671	3	3	384	1	0	0	0	0	1	0	0	0	12625	1435	50	4	1289	4	PRPF4B	6	4037671	Missense_Mutation	SNP	T	TCGA-QH-A6CW-01A-11D-A32B-08		4037671	167077396	16	32845											
SCAND3	114821	broad.mit.edu	37	6	28554109	28554109	+	Missense_Mutation	SNP	T	T	C			TCGA-QH-A6CW-01A-11D-A32B-08	TCGA-QH-A6CW-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbd92bcc-4d34-4586-96c0-90bb8b7431f8	49042d83-e264-4d8a-8b35-d842cc7b767f	g.chr6:28554109T>C	ENST00000452236.2	-	1	1003	c.386A>G	c.(385-387)gAt>gGt	p.D129G	SCAND3_ENST00000530247.1_Intron	NM_052923.1	NP_443155.1	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	129	SCAN box.				DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						CCTCTCCAAATCTTCCAGCAA	0.522													6	180					0	0	1	0	0	C	28554109	T	C	28554109	3	2	384	1	0	0	0	0	1	0	0	0	13929	1435	50	3	3607	3	SCAND3	6	28554109	Missense_Mutation	SNP	T	TCGA-QH-A6CW-01A-11D-A32B-08	24516438	28554109	142560958	17	32846											
ABCA13	154664	broad.mit.edu	37	7	48314805	48314807	+	In_Frame_Del	DEL	TCT	TCT	-			TCGA-QH-A6CW-01A-11D-A32B-08	TCGA-QH-A6CW-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbd92bcc-4d34-4586-96c0-90bb8b7431f8	49042d83-e264-4d8a-8b35-d842cc7b767f	g.chr7:48314805_48314807delTCT	ENST00000435803.1	+	17	5566_5568	c.5542_5544delTCT	c.(5542-5544)tctdel	p.S1850del		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	1850					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TGGGCTCATGTCTTCTTCCTTTT	0.443													14	19	---	---	---	---						-	48314807	TCT	-	48314805	7	5	384	1	0	1	0	1	0	0	0	0	31	1667	58	0	5437	0	ABCA13	7	48314805	In_Frame_Del	DEL	TCT	TCGA-QH-A6CW-01A-11D-A32B-08		48314805	110823858	18	32847											
MET	4233	broad.mit.edu	37	7	116435788	116435788	+	Missense_Mutation	SNP	C	C	G			TCGA-QH-A6CW-01A-11D-A32B-08	TCGA-QH-A6CW-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbd92bcc-4d34-4586-96c0-90bb8b7431f8	49042d83-e264-4d8a-8b35-d842cc7b767f	g.chr7:116435788C>G	ENST00000397752.3	+	20	4078	c.3878C>G	c.(3877-3879)aCt>aGt	p.T1293S	MET_ENST00000539704.1_Missense_Mutation_p.T163S|MET_ENST00000318493.6_Missense_Mutation_p.T1311S	NM_000245.2|NM_001127500.1	NP_000236.2|NP_001120972.1	P08581	MET_HUMAN	met proto-oncogene	1293	Interaction with RANBP9.|Protein kinase.				axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			TTTGATATAACTGTTTACTTG	0.453			Mis		"papillary renal, head-neck squamous cell "	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)		OREG0003446	type=REGULATORY REGION|Gene=MET|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	4	227					0	0	1	0	0	G	116435788	C	G	116435788	3	3	384	1	0	0	0	0	1	0	0	0	9535	565	20	4	4006	4	MET	7	116435788	Missense_Mutation	SNP	C	TCGA-QH-A6CW-01A-11D-A32B-08	68120983	116435788	42702875	19	32848											
ARMC1	55156	broad.mit.edu	37	8	66516636	66516636	+	Missense_Mutation	SNP	T	T	C			TCGA-QH-A6CW-01A-11D-A32B-08	TCGA-QH-A6CW-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbd92bcc-4d34-4586-96c0-90bb8b7431f8	49042d83-e264-4d8a-8b35-d842cc7b767f	g.chr8:66516636T>C	ENST00000276569.3	-	7	1086	c.842A>G	c.(841-843)tAt>tGt	p.Y281C	ARMC1_ENST00000458464.2_Missense_Mutation_p.Y179C	NM_018120.4	NP_060590.1	Q9NVT9	ARMC1_HUMAN	armadillo repeat containing 1	281					metal ion transport		metal ion binding			cervix(1)|endometrium(3)|large_intestine(1)|lung(8)|skin(1)	14			Epithelial(68;0.103)|OV - Ovarian serous cystadenocarcinoma(28;0.235)			AAGTCACCAATAAAATGATCT	0.468													4	37					0	0	1	0	0	C	66516636	T	C	66516636	3	2	384	1	0	0	0	0	1	0	0	0	948	1406	49	3	10	3	ARMC1	8	66516636	Missense_Mutation	SNP	T	TCGA-QH-A6CW-01A-11D-A32B-08		66516636	79847386	20	32849											
KCNB2	9312	broad.mit.edu	37	8	73848182	73848182	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A6CW-01A-11D-A32B-08	TCGA-QH-A6CW-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbd92bcc-4d34-4586-96c0-90bb8b7431f8	49042d83-e264-4d8a-8b35-d842cc7b767f	g.chr8:73848182G>A	ENST00000523207.1	+	3	1180	c.592G>A	c.(592-594)Gtg>Atg	p.V198M		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	198					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding	p.V198M(1)		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)			CCTGGCCATCGTGTCTATCCT	0.463													106	141					0	0	1	0	0	A	73848182	G	A	73848182	3	1	384	1	0	0	0	0	1	0	0	0	8057	1145	40	1	598	1	KCNB2	8	73848182	Missense_Mutation	SNP	G	TCGA-QH-A6CW-01A-11D-A32B-08	7331546	73848182	72515840	21	32850											
VPS28	51160	broad.mit.edu	37	8	145649475	145649475	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A6CW-01A-11D-A32B-08	TCGA-QH-A6CW-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbd92bcc-4d34-4586-96c0-90bb8b7431f8	49042d83-e264-4d8a-8b35-d842cc7b767f	g.chr8:145649475C>T	ENST00000377348.2	-	9	586	c.497G>A	c.(496-498)cGc>cAc	p.R166H	VPS28_ENST00000292510.4_Missense_Mutation_p.R166H|VPS28_ENST00000526054.1_Missense_Mutation_p.R166H|VPS28_ENST00000529182.1_Missense_Mutation_p.R166H	NM_183057.1	NP_898880.1	Q9UK41	VPS28_HUMAN	vacuolar protein sorting 28 homolog (S. cerevisiae)	166	VPS28 C-terminal.				cellular membrane organization|endosome transport|negative regulation of protein ubiquitination|protein transport	cytosol|late endosome membrane|plasma membrane	protein binding			kidney(1)|large_intestine(1)|lung(4)|prostate(1)	7	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;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)			GTGGCTCATGCGGTGCATGGT	0.692													4	196					0	0	1	0	0	T	145649475	C	T	145649475	3	4	384	1	0	0	0	0	1	0	0	0	17259	768	27	1	290	1	VPS28	8	145649475	Missense_Mutation	SNP	C	TCGA-QH-A6CW-01A-11D-A32B-08	71801293	145649475	714547	22	32851											
HSD17B3	3293	broad.mit.edu	37	9	99007648	99007648	+	Silent	SNP	G	G	A			TCGA-QH-A6CW-01A-11D-A32B-08	TCGA-QH-A6CW-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbd92bcc-4d34-4586-96c0-90bb8b7431f8	49042d83-e264-4d8a-8b35-d842cc7b767f	g.chr9:99007648G>A	ENST00000375263.3	-	8	632	c.585C>T	c.(583-585)taC>taT	p.Y195Y	HSD17B3_ENST00000464104.1_5'UTR|HSD17B3_ENST00000375262.2_Silent_p.Y195Y	NM_000197.1	NP_000188.1	P37058	DHB3_HUMAN	hydroxysteroid (17-beta) dehydrogenase 3	195					androgen biosynthetic process|male genitalia development	endoplasmic reticulum membrane|microsome	binding|testosterone 17-beta-dehydrogenase (NAD+) activity|testosterone 17-beta-dehydrogenase (NADP+) activity			breast(1)|endometrium(3)|large_intestine(2)|lung(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13		Acute lymphoblastic leukemia(62;0.0171)|all_hematologic(171;0.214)			NADH(DB00157)	AGTACATGGAGTAGAGAGGCC	0.463													27	48					0	0	1	0	0	A	99007648	G	A	99007648	2	1	384	1	0	0	0	0	0	0	0	1	7426	1024	36	2		2	HSD17B3	9	99007648	Silent	SNP	G	TCGA-QH-A6CW-01A-11D-A32B-08		99007648	42205783	23	32852											
CAMSAP1	157922	broad.mit.edu	37	9	138713097	138713097	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A6CW-01A-11D-A32B-08	TCGA-QH-A6CW-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbd92bcc-4d34-4586-96c0-90bb8b7431f8	49042d83-e264-4d8a-8b35-d842cc7b767f	g.chr9:138713097G>A	ENST00000389532.4	-	11	3474	c.3410C>T	c.(3409-3411)cCt>cTt	p.P1137L	CAMSAP1_ENST00000312405.6_Missense_Mutation_p.P859L|CAMSAP1_ENST00000483991.1_5'UTR|CAMSAP1_ENST00000409386.3_Missense_Mutation_p.P1148L	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein 1	1137						cytoplasm|microtubule				breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		GCTGCTGGCAGGGAAGGGTCT	0.637													4	54					0	0	1	0	0	A	138713097	G	A	138713097	3	1	384	1	0	0	0	0	1	0	0	0	2629	1000	35	2	1426	2	CAMSAP1	9	138713097	Missense_Mutation	SNP	G	TCGA-QH-A6CW-01A-11D-A32B-08	39705449	138713097	2500334	24	32853											
NOTCH1	4851	broad.mit.edu	37	9	139393369	139393370	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-QH-A6CW-01A-11D-A32B-08	TCGA-QH-A6CW-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbd92bcc-4d34-4586-96c0-90bb8b7431f8	49042d83-e264-4d8a-8b35-d842cc7b767f	g.chr9:139393369_139393370delTT	ENST00000277541.6	-	33	6236_6237	c.6161_6162delAA	c.(6160-6162)aaafs	p.K2054fs		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	2054					aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		TCTGCATATCTTTGTTAGCCCC	0.614			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			26	162	---	---	---	---						-	139393370	TT	-	139393369	7	5	384	1	0	1	0	1	0	0	0	0	10594	1606	56	0	1513	0	NOTCH1	9	139393369	Frame_Shift_Del	DEL	TT	TCGA-QH-A6CW-01A-11D-A32B-08	680272	139393369	1820062	25	32854											
NOTCH1	4851	broad.mit.edu	37	9	139413070	139413072	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-QH-A6CW-01A-11D-A32B-08	TCGA-QH-A6CW-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbd92bcc-4d34-4586-96c0-90bb8b7431f8	49042d83-e264-4d8a-8b35-d842cc7b767f	g.chr9:139413070_139413072delAGA	ENST00000277541.6	-	6	1145_1147	c.1070_1072delTCT	c.(1069-1074)ttctac>tac	p.F357del		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	357	EGF-like 9; calcium-binding (Potential).				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	p.F357delF(4)		breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CACTCGCAGTAGAAGGAGGCCAC	0.655			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			8	29	---	---	---	---						-	139413072	AGA	-	139413070	7	5	384	1	0	1	0	1	0	0	0	0	10594	420	15	0	6711	0	NOTCH1	9	139413070	In_Frame_Del	DEL	AGA	TCGA-QH-A6CW-01A-11D-A32B-08	19701	139413070	1800361	26	32855											
KBTBD4	55709	broad.mit.edu	37	11	47594890	47594890	+	Frame_Shift_Del	DEL	T	T	-	rs146935371		TCGA-QH-A6CW-01A-11D-A32B-08	TCGA-QH-A6CW-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbd92bcc-4d34-4586-96c0-90bb8b7431f8	49042d83-e264-4d8a-8b35-d842cc7b767f	g.chr11:47594890delT	ENST00000533290.1	-	3	1938	c.1224delA	c.(1222-1224)ctafs	p.L408fs	KBTBD4_ENST00000395288.2_Frame_Shift_Del_p.L383fs|NDUFS3_ENST00000533507.1_Intron|KBTBD4_ENST00000526005.1_Frame_Shift_Del_p.L383fs|PTPMT1_ENST00000527079.2_3'UTR|KBTBD4_ENST00000430070.2_Frame_Shift_Del_p.L399fs			Q9NVX7	KBTB4_HUMAN	kelch repeat and BTB (POZ) domain containing 4	383										NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	24						CCTCCCCCCCTAGTAAGTAGA	0.507													10	105	---	---	---	---						-	47594890	T	-	47594890	7	5	384	1	0	1	0	1	0	0	0	0	8039	1509	53	0	411	0	KBTBD4	11	47594890	Frame_Shift_Del	DEL	T	TCGA-QH-A6CW-01A-11D-A32B-08		47594890	87411626	27	32856											
OR8D2	283160	broad.mit.edu	37	11	124190082	124190082	+	Silent	SNP	T	T	G			TCGA-QH-A6CW-01A-11D-A32B-08	TCGA-QH-A6CW-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbd92bcc-4d34-4586-96c0-90bb8b7431f8	49042d83-e264-4d8a-8b35-d842cc7b767f	g.chr11:124190082T>G	ENST00000357438.2	-	1	102	c.12A>C	c.(10-12)tcA>tcC	p.S4S		NM_001002918.1	NP_001002918.1	Q9GZM6	OR8D2_HUMAN	olfactory receptor, family 8, subfamily D, member 2	4					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0525)		AAGAATGGTTTGAAGTAGCCA	0.408													9	62					0	0	1	0	0	G	124190082	T	G	124190082	2	3	384	1	0	0	0	0	0	0	0	1	11279	1799	63	5		5	OR8D2	11	124190082	Silent	SNP	T	TCGA-QH-A6CW-01A-11D-A32B-08	76595192	124190082	10816434	28	32857											
NCAPD2	9918	broad.mit.edu	37	12	6634761	6634761	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A6CW-01A-11D-A32B-08	TCGA-QH-A6CW-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbd92bcc-4d34-4586-96c0-90bb8b7431f8	49042d83-e264-4d8a-8b35-d842cc7b767f	g.chr12:6634761G>A	ENST00000315579.5	+	18	3026	c.2227G>A	c.(2227-2229)Gtg>Atg	p.V743M	NCAPD2_ENST00000542492.1_3'UTR|NCAPD2_ENST00000545962.1_Missense_Mutation_p.V698M	NM_014865.3	NP_055680.3	Q15021	CND1_HUMAN	non-SMC condensin I complex, subunit D2	743					cell division|mitotic chromosome condensation	condensin core heterodimer|cytoplasm	histone binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	48						CTGTGAGTTTGTGCAGAAGGA	0.493													4	35					0	0	1	0	0	A	6634761	G	A	6634761	3	1	384	1	0	0	0	0	1	0	0	0	10252	1377	48	2	2293	2	NCAPD2	12	6634761	Missense_Mutation	SNP	G	TCGA-QH-A6CW-01A-11D-A32B-08		6634761	127217134	29	32858											
ATN1	1822	broad.mit.edu	37	12	7045601	7045603	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-QH-A6CW-01A-11D-A32B-08	TCGA-QH-A6CW-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbd92bcc-4d34-4586-96c0-90bb8b7431f8	49042d83-e264-4d8a-8b35-d842cc7b767f	g.chr12:7045601_7045603delTCC	ENST00000356654.4	+	5	1408_1410	c.1171_1173delTCC	c.(1171-1173)tccdel	p.S395del	ATN1_ENST00000396684.2_In_Frame_Del_p.S395del	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN	atrophin 1	395	Poly-Ser.				cell death|central nervous system development	cytoplasm|nucleus	protein domain specific binding			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						ttccagttcttcctcctcttcct	0.586													10	65	---	---	---	---						-	7045603	TCC	-	7045601	7	5	384	1	0	1	0	1	0	0	0	0	1110	1783	62	0	1185	0	ATN1	12	7045601	In_Frame_Del	DEL	TCC	TCGA-QH-A6CW-01A-11D-A32B-08	410840	7045601	126806294	30	32859											
ATP7B	540	broad.mit.edu	37	13	52524503	52524503	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A6CW-01A-11D-A32B-08	TCGA-QH-A6CW-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbd92bcc-4d34-4586-96c0-90bb8b7431f8	49042d83-e264-4d8a-8b35-d842cc7b767f	g.chr13:52524503C>T	ENST00000242839.4	-	10	2636	c.2480G>A	c.(2479-2481)cGg>cAg	p.R827Q	ATP7B_ENST00000344297.5_Missense_Mutation_p.R665Q|ATP7B_ENST00000482841.1_5'UTR|ATP7B_ENST00000418097.2_Missense_Mutation_p.R827Q|ATP7B_ENST00000417240.2_Missense_Mutation_p.R99Q|ATP7B_ENST00000400366.3_Missense_Mutation_p.R716Q|ATP7B_ENST00000448424.2_Missense_Mutation_p.R749Q|ATP7B_ENST00000400370.3_Intron	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	827					ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)		GATATCGCCCCGCTGCACCAG	0.572									Wilson disease				3	30					0	0	1	0	0	T	52524503	C	T	52524503	3	4	384	1	0	0	0	0	1	0	0	0	1189	652	23	1	1965	1	ATP7B	13	52524503	Missense_Mutation	SNP	C	TCGA-QH-A6CW-01A-11D-A32B-08		52524503	62645375	31	32860											
OR4K17	390436	broad.mit.edu	37	14	20585888	20585888	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A6CW-01A-11D-A32B-08	TCGA-QH-A6CW-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbd92bcc-4d34-4586-96c0-90bb8b7431f8	49042d83-e264-4d8a-8b35-d842cc7b767f	g.chr14:20585888C>T	ENST00000315543.4	+	1	323	c.323C>T	c.(322-324)gCc>gTc	p.A108V		NM_001004715.1	NP_001004715.1	Q8NGC6	OR4KH_HUMAN	olfactory receptor, family 4, subfamily K, member 17	80					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A108V(1)		kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|skin(3)	21	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.77e-06)	GBM - Glioblastoma multiforme(265;0.0144)		GCTTCTTTTGCCACCCCTAAG	0.398													4	193					0	0	1	0	0	T	20585888	C	T	20585888	3	4	384	1	0	0	0	0	1	0	0	0	11119	739	26	2	325	2	OR4K17	14	20585888	Missense_Mutation	SNP	C	TCGA-QH-A6CW-01A-11D-A32B-08		20585888	86763652	32	32861											
MYH7	4625	broad.mit.edu	37	14	23894938	23894938	+	Missense_Mutation	SNP	A	A	G			TCGA-QH-A6CW-01A-11D-A32B-08	TCGA-QH-A6CW-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbd92bcc-4d34-4586-96c0-90bb8b7431f8	49042d83-e264-4d8a-8b35-d842cc7b767f	g.chr14:23894938A>G	ENST00000355349.3	-	20	2414	c.2252T>C	c.(2251-2253)aTt>aCt	p.I751T		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	751	Myosin head-like.				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		GTTGTGATCAATGTCCAGGGA	0.493													20	32					0	0	1	0	0	G	23894938	A	G	23894938	3	3	384	1	0	0	0	0	1	0	0	0	10087	101	4	3	3639	3	MYH7	14	23894938	Missense_Mutation	SNP	A	TCGA-QH-A6CW-01A-11D-A32B-08	3309050	23894938	83454602	33	32862											
AHNAK2	113146	broad.mit.edu	37	14	105418743	105418743	+	Silent	SNP	C	C	T			TCGA-QH-A6CW-01A-11D-A32B-08	TCGA-QH-A6CW-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbd92bcc-4d34-4586-96c0-90bb8b7431f8	49042d83-e264-4d8a-8b35-d842cc7b767f	g.chr14:105418743C>T	ENST00000333244.5	-	7	3164	c.3045G>A	c.(3043-3045)aaG>aaA	p.K1015K	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1015						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CCTTGATGGACTTCCCTGGGG	0.592													5	206					0	0	1	0	0	T	105418743	C	T	105418743	2	4	384	1	0	0	0	0	0	0	0	1	412	564	20	2		2	AHNAK2	14	105418743	Silent	SNP	C	TCGA-QH-A6CW-01A-11D-A32B-08	81523805	105418743	1930797	34	32863											
CDH16	1014	broad.mit.edu	37	16	66946006	66946006	+	Missense_Mutation	SNP	A	A	C			TCGA-QH-A6CW-01A-11D-A32B-08	TCGA-QH-A6CW-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbd92bcc-4d34-4586-96c0-90bb8b7431f8	49042d83-e264-4d8a-8b35-d842cc7b767f	g.chr16:66946006A>C	ENST00000299752.4	-	13	1779	c.1586T>G	c.(1585-1587)gTg>gGg	p.V529G	CDH16_ENST00000568632.1_Missense_Mutation_p.V432G|CDH16_ENST00000570262.1_Missense_Mutation_p.V449G|CDH16_ENST00000394055.3_Missense_Mutation_p.V529G|CDH16_ENST00000565796.1_Missense_Mutation_p.V529G	NM_001204744.1|NM_001204745.1|NM_004062.3	NP_001191673.1|NP_001191674.1|NP_004053.1	O75309	CAD16_HUMAN	cadherin 16, KSP-cadherin	529	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.V529A(1)		endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)		CACCACCACCACCACCTCATG	0.642													18	27					0	0	1	0	0	C	66946006	A	C	66946006	3	2	384	1	0	0	0	0	1	0	0	0	3123	159	6	5	927	5	CDH16	16	66946006	Missense_Mutation	SNP	A	TCGA-QH-A6CW-01A-11D-A32B-08		66946006	23408747	35	32864											
TP53	7157	broad.mit.edu	37	17	7578535	7578535	+	Missense_Mutation	SNP	T	T	C			TCGA-QH-A6CW-01A-11D-A32B-08	TCGA-QH-A6CW-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbd92bcc-4d34-4586-96c0-90bb8b7431f8	49042d83-e264-4d8a-8b35-d842cc7b767f	g.chr17:7578535T>C	ENST00000420246.2	-	5	527	c.395A>G	c.(394-396)aAg>aGg	p.K132R	TP53_ENST00000413465.2_Missense_Mutation_p.K132R|TP53_ENST00000359597.4_Missense_Mutation_p.K132R|TP53_ENST00000269305.4_Missense_Mutation_p.K132R|TP53_ENST00000455263.2_Missense_Mutation_p.K132R|TP53_ENST00000445888.2_Missense_Mutation_p.K132R	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	132	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		K -> E (in LFS; germline mutation and in sporadic cancers; somatic mutation).|K -> L (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|K -> M (in sporadic cancers; somatic mutation).|K -> N (in sporadic cancers; somatic mutation).|K -> Q (in sporadic cancers; somatic mutation).|K -> R (in sporadic cancers; somatic mutation).|K -> T (in sporadic cancers; somatic mutation).|K -> W (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|KM -> NL (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.K132R(42)|p.K132M(10)|p.0?(8)|p.K132T(7)|p.Y126_K132delYSPALNK(6)|p.N131del(3)|p.K39R(3)|p.N131fs*27(2)|p.V73fs*9(1)|p.S127fs*36(1)|p.A129_K132delALNK(1)|p.Y126fs*11(1)|p.K132W(1)|p.K132_A138delKMFCQLA(1)|p.S127_Q136del10(1)|p.L130_M133delLNKM(1)|p.K39T(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)		GCAAAACATCTTGTTGAGGGC	0.562		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)			31	5					0	0	1	0	0	C	7578535	T	C	7578535	3	2	384	1	0	0	0	0	1	0	0	0	16442	1609	56	3	903	3	TP53	17	7578535	Missense_Mutation	SNP	T	TCGA-QH-A6CW-01A-11D-A32B-08		7578535	73616675	36	32865											
TCEB3B	51224	broad.mit.edu	37	18	44560214	44560214	+	Silent	SNP	G	G	A			TCGA-QH-A6CW-01A-11D-A32B-08	TCGA-QH-A6CW-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbd92bcc-4d34-4586-96c0-90bb8b7431f8	49042d83-e264-4d8a-8b35-d842cc7b767f	g.chr18:44560214G>A	ENST00000332567.4	-	1	1774	c.1422C>T	c.(1420-1422)taC>taT	p.Y474Y	KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000356157.7_Intron	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN	transcription elongation factor B polypeptide 3B (elongin A2)	474					regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding			breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						AAAGCGGATCGTAGTTGGCCT	0.607													5	92					0	0	1	0	0	A	44560214	G	A	44560214	2	1	384	1	0	0	0	0	0	0	0	1	15742	1140	40	1		1	TCEB3B	18	44560214	Silent	SNP	G	TCGA-QH-A6CW-01A-11D-A32B-08		44560214	33517034	37	32866											
PHLPP1	23239	broad.mit.edu	37	18	60645537	60645537	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A6CW-01A-11D-A32B-08	TCGA-QH-A6CW-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbd92bcc-4d34-4586-96c0-90bb8b7431f8	49042d83-e264-4d8a-8b35-d842cc7b767f	g.chr18:60645537G>A	ENST00000400316.4	+	17	4272	c.2491G>A	c.(2491-2493)Ggc>Agc	p.G831S	PHLPP1_ENST00000262719.5_Missense_Mutation_p.G1343S	NM_194449.3	NP_919431.2	O60346	PHLP1_HUMAN	PH domain and leucine rich repeat protein phosphatase 1	1343					apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	cytosol|membrane|nucleus	metal ion binding|protein serine/threonine phosphatase activity			endometrium(2)|kidney(2)|lung(13)	17						GCGCATCCTGGGCTACACCTT	0.572													7	11					0	0	1	0	0	A	60645537	G	A	60645537	3	1	384	1	0	0	0	0	1	0	0	0	11902	1232	43	2	4093	2	PHLPP1	18	60645537	Missense_Mutation	SNP	G	TCGA-QH-A6CW-01A-11D-A32B-08	16085323	60645537	17431711	38	32867											
SMARCA4	6597	broad.mit.edu	37	19	11123693	11123693	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A6CW-01A-11D-A32B-08	TCGA-QH-A6CW-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbd92bcc-4d34-4586-96c0-90bb8b7431f8	49042d83-e264-4d8a-8b35-d842cc7b767f	g.chr19:11123693G>A	ENST00000358026.2	+	16	2627	c.2343G>A	c.(2341-2343)atG>atA	p.M781I	SMARCA4_ENST00000541122.2_Missense_Mutation_p.M781I|SMARCA4_ENST00000444061.3_Missense_Mutation_p.M781I|SMARCA4_ENST00000589677.1_Missense_Mutation_p.M781I|SMARCA4_ENST00000413806.3_Missense_Mutation_p.M781I|SMARCA4_ENST00000344626.4_Missense_Mutation_p.M781I|SMARCA4_ENST00000450717.3_Missense_Mutation_p.M781I|SMARCA4_ENST00000429416.3_Missense_Mutation_p.M781I|CTC-215O4.4_ENST00000587831.1_RNA|SMARCA4_ENST00000590574.1_Missense_Mutation_p.M781I	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	781	Helicase ATP-binding.				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				CCGACGAGATGGGCCTGGGGA	0.577			"F, N, Mis"		NSCLC								5	48					0	0	1	0	0	A	11123693	G	A	11123693	3	1	384	1	0	0	0	0	1	0	0	0	14824	1348	47	2	2401	2	SMARCA4	19	11123693	Missense_Mutation	SNP	G	TCGA-QH-A6CW-01A-11D-A32B-08		11123693	48005290	39	32868											
SMARCA4	6597	broad.mit.edu	37	19	11144027	11144027	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A6CW-01A-11D-A32B-08	TCGA-QH-A6CW-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbd92bcc-4d34-4586-96c0-90bb8b7431f8	49042d83-e264-4d8a-8b35-d842cc7b767f	g.chr19:11144027G>A	ENST00000358026.2	+	26	3892	c.3608G>A	c.(3607-3609)cGc>cAc	p.R1203H	SMARCA4_ENST00000541122.2_Missense_Mutation_p.R1203H|SMARCA4_ENST00000444061.3_Missense_Mutation_p.R1203H|SMARCA4_ENST00000589677.1_Missense_Mutation_p.R1203H|SMARCA4_ENST00000413806.3_Missense_Mutation_p.R1203H|SMARCA4_ENST00000344626.4_Missense_Mutation_p.R1203H|SMARCA4_ENST00000450717.3_Missense_Mutation_p.R1203H|SMARCA4_ENST00000429416.3_Missense_Mutation_p.R1203H|SMARCA4_ENST00000590574.1_Missense_Mutation_p.R1203H	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	1203	Helicase C-terminal.				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				CGTGTGCTCCGCCTCTGCACC	0.627			"F, N, Mis"		NSCLC								8	99					0	0	1	0	0	A	11144027	G	A	11144027	3	1	384	1	0	0	0	0	1	0	0	0	14824	1087	38	1	3706	1	SMARCA4	19	11144027	Missense_Mutation	SNP	G	TCGA-QH-A6CW-01A-11D-A32B-08	20334	11144027	47984956	40	32869											
SYDE1	85360	broad.mit.edu	37	19	15224628	15224630	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-QH-A6CW-01A-11D-A32B-08	TCGA-QH-A6CW-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbd92bcc-4d34-4586-96c0-90bb8b7431f8	49042d83-e264-4d8a-8b35-d842cc7b767f	g.chr19:15224628_15224630delGAG	ENST00000600252.1	+	5	2675_2677	c.1033_1035delGAG	c.(1033-1035)gagdel	p.E346del	SYDE1_ENST00000342784.2_In_Frame_Del_p.E689del|SYDE1_ENST00000600440.1_In_Frame_Del_p.E622del			Q6ZW31	SYDE1_HUMAN	synapse defective 1, Rho GTPase, homolog 1 (C. elegans)	689					activation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	Rho GTPase activator activity			endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|pancreas(1)|skin(1)	17						GGACGAGGACGAGGAGGTCGGCG	0.64													8	184	---	---	---	---						-	15224630	GAG	-	15224628	7	5	384	1	0	1	0	1	0	0	0	0	15492	1059	37	0	2092	0	SYDE1	19	15224628	In_Frame_Del	DEL	GAG	TCGA-QH-A6CW-01A-11D-A32B-08	4080601	15224628	43904355	41	32870											
ZNF180	7733	broad.mit.edu	37	19	44982041	44982041	+	Silent	SNP	T	T	C			TCGA-QH-A6CW-01A-11D-A32B-08	TCGA-QH-A6CW-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbd92bcc-4d34-4586-96c0-90bb8b7431f8	49042d83-e264-4d8a-8b35-d842cc7b767f	g.chr19:44982041T>C	ENST00000221327.4	-	5	938	c.657A>G	c.(655-657)aaA>aaG	p.K219K	ZNF180_ENST00000391956.4_Silent_p.K194K|ZNF180_ENST00000592529.1_Silent_p.K192K|ZNF180_ENST00000586637.1_3'UTR	NM_013256.3	NP_037388.2	Q9UJW8	ZN180_HUMAN	zinc finger protein 180	219					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(6)|ovary(2)|urinary_tract(1)	33		Prostate(69;0.0435)				GTGATACATGTTTATGAAAAT	0.353													28	35					0	0	1	0	0	C	44982041	T	C	44982041	2	2	384	1	0	0	0	0	0	0	0	1	17806	1722	60	3		3	ZNF180	19	44982041	Silent	SNP	T	TCGA-QH-A6CW-01A-11D-A32B-08	29757413	44982041	14146942	42	32871											
PRKD2	25865	broad.mit.edu	37	19	47181709	47181709	+	Missense_Mutation	SNP	A	A	G			TCGA-QH-A6CW-01A-11D-A32B-08	TCGA-QH-A6CW-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbd92bcc-4d34-4586-96c0-90bb8b7431f8	49042d83-e264-4d8a-8b35-d842cc7b767f	g.chr19:47181709A>G	ENST00000433867.1	-	17	2759	c.2282T>C	c.(2281-2283)aTc>aCc	p.I761T	PRKD2_ENST00000601806.1_Missense_Mutation_p.I604T|PRKD2_ENST00000291281.4_Missense_Mutation_p.I761T|PRKD2_ENST00000595515.1_Missense_Mutation_p.I761T|PRKD2_ENST00000600194.1_Missense_Mutation_p.I604T	NM_001079880.1|NM_001079881.1|NM_016457.4	NP_001073349|NP_001073350|NP_057541	Q9BZL6	KPCD2_HUMAN	protein kinase D2	761	Protein kinase.				cell death|intracellular signal transduction|positive regulation of transcription from RNA polymerase II promoter|protein autophosphorylation|T cell receptor signaling pathway	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein kinase C activity			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	41		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353)		GGCGTTCTGGATCTGGTCATT	0.622													13	22					0	0	1	0	0	G	47181709	A	G	47181709	3	3	384	1	0	0	0	0	1	0	0	0	12571	333	12	3	366	3	PRKD2	19	47181709	Missense_Mutation	SNP	A	TCGA-QH-A6CW-01A-11D-A32B-08	2199668	47181709	11947274	43	32872											
SHANK1	50944	broad.mit.edu	37	19	51169573	51169573	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A6CW-01A-11D-A32B-08	TCGA-QH-A6CW-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbd92bcc-4d34-4586-96c0-90bb8b7431f8	49042d83-e264-4d8a-8b35-d842cc7b767f	g.chr19:51169573C>T	ENST00000293441.1	-	22	5662	c.5644G>A	c.(5644-5646)Ggg>Agg	p.G1882R	SHANK1_ENST00000391813.1_Missense_Mutation_p.G1269R|SHANK1_ENST00000359082.3_Missense_Mutation_p.G1873R|SHANK1_ENST00000391814.1_Missense_Mutation_p.G1890R|SYT3_ENST00000544769.1_Intron	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	1882					cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		GAGGAGCCCCCAAACTGCTGA	0.672													4	22					0	0	1	0	0	T	51169573	C	T	51169573	3	4	384	1	0	0	0	0	1	0	0	0	14319	594	21	2	849	2	SHANK1	19	51169573	Missense_Mutation	SNP	C	TCGA-QH-A6CW-01A-11D-A32B-08	3987864	51169573	7959410	44	32873											
YWHAB	7529	broad.mit.edu	37	20	43534679	43534679	+	Missense_Mutation	SNP	A	A	G			TCGA-QH-A6CW-01A-11D-A32B-08	TCGA-QH-A6CW-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbd92bcc-4d34-4586-96c0-90bb8b7431f8	49042d83-e264-4d8a-8b35-d842cc7b767f	g.chr20:43534679A>G	ENST00000372839.3	+	6	900	c.626A>G	c.(625-627)aAt>aGt	p.N209S	YWHAB_ENST00000353703.4_Missense_Mutation_p.N209S|YWHAB_ENST00000479421.1_3'UTR	NM_003404.3	NP_003395.1	P31946	1433B_HUMAN	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, beta polypeptide	209					activation of MAPKK activity|activation of pro-apoptotic gene products|axon guidance|cytoplasmic sequestering of protein|epidermal growth factor receptor signaling pathway|induction of apoptosis by intracellular signals|insulin receptor signaling pathway|mRNA metabolic process|negative regulation of protein dephosphorylation|nerve growth factor receptor signaling pathway|Ras protein signal transduction	centrosome|cytosol|melanosome|perinuclear region of cytoplasm	histone deacetylase binding|phosphoserine binding|protein domain specific binding			breast(1)|kidney(5)|large_intestine(2)|lung(2)|ovary(1)|urinary_tract(1)	12		Myeloproliferative disorder(115;0.0122)				GATACGCTGAATGAAGAGTCT	0.388													35	71					0	0	1	0	0	G	43534679	A	G	43534679	3	3	384	1	0	0	0	0	1	0	0	0	17561	101	4	3	640	3	YWHAB	20	43534679	Missense_Mutation	SNP	A	TCGA-QH-A6CW-01A-11D-A32B-08		43534679	19490841	45	32874											
ZNF831	128611	broad.mit.edu	37	20	57766658	57766658	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A6CW-01A-11D-A32B-08	TCGA-QH-A6CW-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbd92bcc-4d34-4586-96c0-90bb8b7431f8	49042d83-e264-4d8a-8b35-d842cc7b767f	g.chr20:57766658C>T	ENST00000371030.2	+	1	584	c.584C>T	c.(583-585)aCg>aTg	p.T195M		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	195						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					CGGACGCAGACGCACCTCAAC	0.672													36	48					0	0	1	0	0	T	57766658	C	T	57766658	3	4	384	1	0	0	0	0	1	0	0	0	18232	536	19	1	586	1	ZNF831	20	57766658	Missense_Mutation	SNP	C	TCGA-QH-A6CW-01A-11D-A32B-08	14231979	57766658	5258862	46	32875											
SBF1	6305	broad.mit.edu	37	22	50900706	50900706	+	Missense_Mutation	SNP	T	T	C			TCGA-QH-A6CW-01A-11D-A32B-08	TCGA-QH-A6CW-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbd92bcc-4d34-4586-96c0-90bb8b7431f8	49042d83-e264-4d8a-8b35-d842cc7b767f	g.chr22:50900706T>C	ENST00000380817.3	-	19	2507	c.2324A>G	c.(2323-2325)aAg>aGg	p.K775R	SBF1_ENST00000390679.3_Missense_Mutation_p.K775R|SBF1_ENST00000348911.6_Missense_Mutation_p.K776R	NM_002972.2	NP_002963.2	O95248	MTMR5_HUMAN	SET binding factor 1						protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		TAGGCGGCTCTTGCTGCTGTC	0.657													26	27					0	0	1	0	0	C	50900706	T	C	50900706	3	2	384	1	0	0	0	0	1	0	0	0	13911	1609	56	3	3449	3	SBF1	22	50900706	Missense_Mutation	SNP	T	TCGA-QH-A6CW-01A-11D-A32B-08		50900706	403860	47	32876											
PHF8	23133	broad.mit.edu	37	X	53965658	53965658	+	Missense_Mutation	SNP	A	A	G			TCGA-QH-A6CW-01A-11D-A32B-08	TCGA-QH-A6CW-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbd92bcc-4d34-4586-96c0-90bb8b7431f8	49042d83-e264-4d8a-8b35-d842cc7b767f	g.chrX:53965658A>G	ENST00000338154.6	-	22	3512	c.3008T>C	c.(3007-3009)cTg>cCg	p.L1003P	PHF8_ENST00000357988.5_Missense_Mutation_p.L1039P|PHF8_ENST00000338946.6_Missense_Mutation_p.L902P	NM_015107.2	NP_055922.1	Q9UPP1	PHF8_HUMAN	PHD finger protein 8	1039					brain development|G1/S transition of mitotic cell cycle|negative regulation of chromatin silencing at rDNA|positive regulation of transcription from RNA polymerase I promoter|transcription, DNA-dependent	nucleolus	chromatin binding|histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	40						TGCTGTGGCCAGGCCCTTTTT	0.547													7	30					0	0	1	0	0	G	53965658	A	G	53965658	3	3	384	1	0	0	0	0	1	0	0	0	11888	188	7	3	153	3	PHF8	23	53965658	Missense_Mutation	SNP	A	TCGA-QH-A6CW-01A-11D-A32B-08		53965658	101304902	48	32877											
HEPH	9843	broad.mit.edu	37	X	65486345	65486345	+	Missense_Mutation	SNP	A	A	G			TCGA-QH-A6CW-01A-11D-A32B-08	TCGA-QH-A6CW-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbd92bcc-4d34-4586-96c0-90bb8b7431f8	49042d83-e264-4d8a-8b35-d842cc7b767f	g.chrX:65486345A>G	ENST00000519389.1	+	21	3649	c.3470A>G	c.(3469-3471)aAg>aGg	p.K1157R	HEPH_ENST00000336279.5_Missense_Mutation_p.K836R|HEPH_ENST00000441993.2_Missense_Mutation_p.K1105R|HEPH_ENST00000374727.3_Missense_Mutation_p.K1106R|HEPH_ENST00000419594.1_Missense_Mutation_p.K914R|HEPH_ENST00000343002.2_Missense_Mutation_p.K1103R			Q9BQS7	HEPH_HUMAN	hephaestin	1103					cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						ATCCCCATAAAGAATGTTGAG	0.488													7	30					0	0	1	0	0	G	65486345	A	G	65486345	3	3	384	1	0	0	0	0	1	0	0	0	7095	72	3	3	3552	3	HEPH	23	65486345	Missense_Mutation	SNP	A	TCGA-QH-A6CW-01A-11D-A32B-08	11520687	65486345	89784215	49	32878											
ATRX	546	broad.mit.edu	37	X	76814303	76814306	+	Frame_Shift_Del	DEL	ATAA	ATAA	-			TCGA-QH-A6CW-01A-11D-A32B-08	TCGA-QH-A6CW-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbd92bcc-4d34-4586-96c0-90bb8b7431f8	49042d83-e264-4d8a-8b35-d842cc7b767f	g.chrX:76814303_76814306delATAA	ENST00000373344.5	-	29	6552_6555	c.6338_6341delTTAT	c.(6337-6342)tttatcfs	p.FI2113fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.FI2075fs	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	2113	Helicase C-terminal.				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.F2113fs*9(1)|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)	AGTAGAAATGATAAATAATCGTCC	0.289			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						13	1	---	---	---	---						-	76814306	ATAA	-	76814303	7	5	384	1	0	1	0	1	0	0	0	0	1206	333	12	0	1165	0	ATRX	23	76814303	Frame_Shift_Del	DEL	ATAA	TCGA-QH-A6CW-01A-11D-A32B-08	11327958	76814303	78456257	50	32879											
AMOT	154796	broad.mit.edu	37	X	112048276	112048276	+	Missense_Mutation	SNP	C	C	G			TCGA-QH-A6CW-01A-11D-A32B-08	TCGA-QH-A6CW-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbd92bcc-4d34-4586-96c0-90bb8b7431f8	49042d83-e264-4d8a-8b35-d842cc7b767f	g.chrX:112048276C>G	ENST00000371959.3	-	5	1674	c.1675G>C	c.(1675-1677)Gcc>Ccc	p.A559P	AMOT_ENST00000524145.1_Missense_Mutation_p.A559P|AMOT_ENST00000371962.1_Missense_Mutation_p.A327P|AMOT_ENST00000304758.1_Missense_Mutation_p.A150P|AMOT_ENST00000371958.1_Missense_Mutation_p.A327P	NM_001113490.1	NP_001106962.1	Q4VCS5	AMOT_HUMAN	angiomotin	559					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						CGGGCAGTGGCCAGCTCCGCT	0.522													8	147					0	0	1	0	0	G	112048276	C	G	112048276	3	3	384	1	0	0	0	0	1	0	0	0	578	739	26	5	1607	5	AMOT	23	112048276	Missense_Mutation	SNP	C	TCGA-QH-A6CW-01A-11D-A32B-08	35233973	112048276	43222284	51	32880											
TTC22	55001	broad.mit.edu	37	1	55251700	55251700	+	Nonsense_Mutation	SNP	G	G	A			TCGA-QH-A6CX-01A-11D-A32B-08	TCGA-QH-A6CX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54e640a-a02a-4687-9325-d6485c4fb4bb	91d4fca0-37c3-45ef-b4c9-487046bcca69	g.chr1:55251700G>A	ENST00000371276.4	-	5	1079	c.976C>T	c.(976-978)Cga>Tga	p.R326*	TTC22_ENST00000371274.4_Nonsense_Mutation_p.R326*	NM_001114108.1	NP_001107580.1	Q5TAA0	TTC22_HUMAN	tetratricopeptide repeat domain 22	326							binding			kidney(1)|large_intestine(1)|lung(7)|skin(1)	10						TCTGGATCTCGTAGGACATCC	0.542													11	28					0	0	1	0	0	A	55251700	G	A	55251700	4	1	385	1	0	0	0	0	0	1	0	0	16751	1153	40	1	848	1	TTC22	1	55251700	Nonsense_Mutation	SNP	G	TCGA-QH-A6CX-01A-11D-A32B-08		55251700	193998921	1	32881											
LHX8	431707	broad.mit.edu	37	1	75622617	75622617	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A6CX-01A-11D-A32B-08	TCGA-QH-A6CX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54e640a-a02a-4687-9325-d6485c4fb4bb	91d4fca0-37c3-45ef-b4c9-487046bcca69	g.chr1:75622617G>A	ENST00000294638.5	+	9	1514	c.850G>A	c.(850-852)Gtc>Atc	p.V284I	LHX8_ENST00000356261.3_Missense_Mutation_p.V274I	NM_001001933.1	NP_001001933.1	Q68G74	LHX8_HUMAN	LIM homeobox 8	284						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(18)|ovary(3)|urinary_tract(1)	30						CAAGAAACACGTCAGTCCTAA	0.502													32	101					0	0	1	0	0	A	75622617	G	A	75622617	3	1	385	1	0	0	0	0	1	0	0	0	8816	1145	40	1	880	1	LHX8	1	75622617	Missense_Mutation	SNP	G	TCGA-QH-A6CX-01A-11D-A32B-08	20370917	75622617	173628004	2	32882											
THEM5	284486	broad.mit.edu	37	1	151823573	151823573	+	Silent	SNP	C	C	T			TCGA-QH-A6CX-01A-11D-A32B-08	TCGA-QH-A6CX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54e640a-a02a-4687-9325-d6485c4fb4bb	91d4fca0-37c3-45ef-b4c9-487046bcca69	g.chr1:151823573C>T	ENST00000368817.5	-	3	551	c.420G>A	c.(418-420)tcG>tcA	p.S140S		NM_182578.3	NP_872384	Q8N1Q8	THEM5_HUMAN	thioesterase superfamily member 5	140							hydrolase activity	p.S140S(1)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(2)	15	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			AAAGACAGACCGACTTCTTCT	0.567													6	39					0	0	1	0	0	T	151823573	C	T	151823573	2	4	385	1	0	0	0	0	0	0	0	1	15919	639	23	1		1	THEM5	1	151823573	Silent	SNP	C	TCGA-QH-A6CX-01A-11D-A32B-08	76200956	151823573	97427048	3	32883											
ZC3H11A	9877	broad.mit.edu	37	1	203819140	203819140	+	Frame_Shift_Del	DEL	A	A	-			TCGA-QH-A6CX-01A-11D-A32B-08	TCGA-QH-A6CX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54e640a-a02a-4687-9325-d6485c4fb4bb	91d4fca0-37c3-45ef-b4c9-487046bcca69	g.chr1:203819140delA	ENST00000545588.1	+	14	5752	c.1925delA	c.(1924-1926)gaafs	p.E642fs	ZC3H11A_ENST00000367210.1_Frame_Shift_Del_p.E642fs|ZC3H11A_ENST00000367212.3_Frame_Shift_Del_p.E642fs|ZC3H11A_ENST00000367214.1_Frame_Shift_Del_p.E642fs|ZC3H11A_ENST00000332127.4_Frame_Shift_Del_p.E642fs	NM_001271675.1	NP_001258604.1	O75152	ZC11A_HUMAN	zinc finger CCCH-type containing 11A	642							nucleic acid binding|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32	all_cancers(21;0.0904)|all_epithelial(62;0.234)		BRCA - Breast invasive adenocarcinoma(75;0.109)			CAGACCTTGGAAAAAAGGGGT	0.418													7	1785	---	---	---	---						-	203819140	A	-	203819140	7	5	385	1	0	1	0	1	0	0	0	0	17619	246	9	0	1975	0	ZC3H11A	1	203819140	Frame_Shift_Del	DEL	A	TCGA-QH-A6CX-01A-11D-A32B-08	51995567	203819140	45431481	4	32884											
GOLT1A	127845	broad.mit.edu	37	1	204170871	204170871	+	Silent	SNP	C	C	T			TCGA-QH-A6CX-01A-11D-A32B-08	TCGA-QH-A6CX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54e640a-a02a-4687-9325-d6485c4fb4bb	91d4fca0-37c3-45ef-b4c9-487046bcca69	g.chr1:204170871C>T	ENST00000308302.3	-	3	371	c.186G>A	c.(184-186)cgG>cgA	p.R62R		NM_198447.1	NP_940849.1	Q6ZVE7	GOT1A_HUMAN	golgi transport 1A	62					protein transport|vesicle-mediated transport	Golgi membrane|integral to membrane		p.R62R(1)		kidney(1)|lung(2)|urinary_tract(1)	4	all_cancers(21;0.0165)|Breast(84;0.179)|all_epithelial(62;0.242)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.244)			TGAGTTTGTGCCGTTGGAAGA	0.567													9	1474					0	0	1	0	0	T	204170871	C	T	204170871	2	4	385	1	0	0	0	0	0	0	0	1	6609	726	26	2		2	GOLT1A	1	204170871	Silent	SNP	C	TCGA-QH-A6CX-01A-11D-A32B-08	351731	204170871	45079750	5	32885											
TMEM81	388730	broad.mit.edu	37	1	205052694	205052694	+	Frame_Shift_Del	DEL	C	C	-			TCGA-QH-A6CX-01A-11D-A32B-08	TCGA-QH-A6CX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54e640a-a02a-4687-9325-d6485c4fb4bb	91d4fca0-37c3-45ef-b4c9-487046bcca69	g.chr1:205052694delC	ENST00000367167.3	-	1	951	c.755delG	c.(754-756)ggcfs	p.G252fs		NM_203376.1	NP_976310.1	Q6P7N7	TMM81_HUMAN	transmembrane protein 81	252						integral to membrane				endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	9	all_cancers(21;0.144)|Breast(84;0.0437)		BRCA - Breast invasive adenocarcinoma(75;0.0923)			CTGCTGCAGGCCCCCCCTTAG	0.537													7	1355	---	---	---	---						-	205052694	C	-	205052694	7	5	385	1	0	1	0	1	0	0	0	0	16265	739	26	0	16	0	TMEM81	1	205052694	Frame_Shift_Del	DEL	C	TCGA-QH-A6CX-01A-11D-A32B-08	881823	205052694	44197927	6	32886											
MIA3	375056	broad.mit.edu	37	1	222838722	222838722	+	Missense_Mutation	SNP	C	C	A			TCGA-QH-A6CX-01A-11D-A32B-08	TCGA-QH-A6CX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54e640a-a02a-4687-9325-d6485c4fb4bb	91d4fca0-37c3-45ef-b4c9-487046bcca69	g.chr1:222838722C>A	ENST00000344922.5	+	28	5510	c.5485C>A	c.(5485-5487)Cct>Act	p.P1829T	MIA3_ENST00000344441.6_Missense_Mutation_p.P1829T|MIA3_ENST00000344507.1_Intron|MIA3_ENST00000340535.7_Missense_Mutation_p.P707T	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	1829	Pro-rich.				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)		ACGGGACCTGCCTCTCCACCC	0.493													55	199					2.78941e-39	2.98865e-39	1	1	0	A	222838722	C	A	222838722	3	1	385	1	0	0	0	0	1	0	0	0	9614	739	26	5	5595	5	MIA3	1	222838722	Missense_Mutation	SNP	C	TCGA-QH-A6CX-01A-11D-A32B-08	17786028	222838722	26411899	7	32887											
OR2L3	391192	broad.mit.edu	37	1	248224254	248224254	+	Missense_Mutation	SNP	A	A	G			TCGA-QH-A6CX-01A-11D-A32B-08	TCGA-QH-A6CX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54e640a-a02a-4687-9325-d6485c4fb4bb	91d4fca0-37c3-45ef-b4c9-487046bcca69	g.chr1:248224254A>G	ENST00000359959.3	+	1	271	c.271A>G	c.(271-273)Atc>Gtc	p.I91V	OR2L13_ENST00000366478.2_Intron	NM_001004687.1	NP_001004687.1	Q8NG85	OR2L3_HUMAN	olfactory receptor, family 2, subfamily L, member 3	91					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1)	41	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			TAACAAGTCTATCTCCTTCAC	0.433													51	247					0	0	1	0	0	G	248224254	A	G	248224254	3	3	385	1	0	0	0	0	1	0	0	0	11056	449	16	3	273	3	OR2L3	1	248224254	Missense_Mutation	SNP	A	TCGA-QH-A6CX-01A-11D-A32B-08	25385532	248224254	1026367	8	32888											
ASTL	431705	broad.mit.edu	37	2	96789808	96789808	+	Silent	SNP	C	C	T	rs148115152		TCGA-QH-A6CX-01A-11D-A32B-08	TCGA-QH-A6CX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54e640a-a02a-4687-9325-d6485c4fb4bb	91d4fca0-37c3-45ef-b4c9-487046bcca69	g.chr2:96789808C>T	ENST00000342380.2	-	9	1076	c.1077G>A	c.(1075-1077)tcG>tcA	p.S359S		NM_001002036.3	NP_001002036.3	Q6HA08	ASTL_HUMAN	astacin-like metallo-endopeptidase (M12 family)	359					proteolysis		metalloendopeptidase activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(2)	30						GCTGCCTTGCCGAGGCCTCTG	0.662													13	73					0	0	1	0	0	T	96789808	C	T	96789808	2	4	385	1	0	0	0	0	0	0	0	1	1062	639	23	1		1	ASTL	2	96789808	Silent	SNP	C	TCGA-QH-A6CX-01A-11D-A32B-08		96789808	146409565	9	32889											
EDAR	10913	broad.mit.edu	37	2	109513512	109513512	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A6CX-01A-11D-A32B-08	TCGA-QH-A6CX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54e640a-a02a-4687-9325-d6485c4fb4bb	91d4fca0-37c3-45ef-b4c9-487046bcca69	g.chr2:109513512G>A	ENST00000409271.1	-	12	1737	c.1294C>T	c.(1294-1296)Cgc>Tgc	p.R432C	EDAR_ENST00000376651.1_Missense_Mutation_p.R432C|EDAR_ENST00000258443.2_Missense_Mutation_p.R400C			Q9UNE0	EDAR_HUMAN	ectodysplasin A receptor	400					apoptosis|cell differentiation	integral to membrane	protein binding|transmembrane receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16						GTGCTGATGCGGTCAAAGAGT	0.562													4	16					0	0	1	0	0	A	109513512	G	A	109513512	3	1	385	1	0	0	0	0	1	0	0	0	4931	1116	39	1	152	1	EDAR	2	109513512	Missense_Mutation	SNP	G	TCGA-QH-A6CX-01A-11D-A32B-08	12723704	109513512	133685861	10	32890											
EDAR	10913	broad.mit.edu	37	2	109527458	109527458	+	Silent	SNP	G	G	A			TCGA-QH-A6CX-01A-11D-A32B-08	TCGA-QH-A6CX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54e640a-a02a-4687-9325-d6485c4fb4bb	91d4fca0-37c3-45ef-b4c9-487046bcca69	g.chr2:109527458G>A	ENST00000409271.1	-	8	1043	c.600C>T	c.(598-600)atC>atT	p.I200I	EDAR_ENST00000376651.1_Silent_p.I200I|EDAR_ENST00000258443.2_Silent_p.I200I			Q9UNE0	EDAR_HUMAN	ectodysplasin A receptor	200					apoptosis|cell differentiation	integral to membrane	protein binding|transmembrane receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16						ggacgatggcgatggccatga	0.577													8	28					0	0	1	0	0	A	109527458	G	A	109527458	2	1	385	1	0	0	0	0	0	0	0	1	4931	1048	37	1		1	EDAR	2	109527458	Silent	SNP	G	TCGA-QH-A6CX-01A-11D-A32B-08	13946	109527458	133671915	11	32891											
COL3A1	1281	broad.mit.edu	37	2	189873659	189873659	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A6CX-01A-11D-A32B-08	TCGA-QH-A6CX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54e640a-a02a-4687-9325-d6485c4fb4bb	91d4fca0-37c3-45ef-b4c9-487046bcca69	g.chr2:189873659G>A	ENST00000304636.3	+	48	3705	c.3535G>A	c.(3535-3537)Ggc>Agc	p.G1179S	COL3A1_ENST00000317840.5_Missense_Mutation_p.G876S	NM_000090.3	NP_000081	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	1179	Triple-helical region.		G -> R (in EDS4).		axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	GGGCTCCCCAGGCCACCCAGG	0.522													21	72					0	0	1	0	0	A	189873659	G	A	189873659	3	1	385	1	0	0	0	0	1	0	0	0	3711	1000	35	2	3725	2	COL3A1	2	189873659	Missense_Mutation	SNP	G	TCGA-QH-A6CX-01A-11D-A32B-08	80346201	189873659	53325714	12	32892											
IKZF2	22807	broad.mit.edu	37	2	213872293	213872293	+	Missense_Mutation	SNP	A	A	C			TCGA-QH-A6CX-01A-11D-A32B-08	TCGA-QH-A6CX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54e640a-a02a-4687-9325-d6485c4fb4bb	91d4fca0-37c3-45ef-b4c9-487046bcca69	g.chr2:213872293A>C	ENST00000457361.1	-	8	1540	c.1372T>G	c.(1372-1374)Tac>Gac	p.Y458D	IKZF2_ENST00000451136.2_Missense_Mutation_p.Y386D|AC079610.1_ENST00000415387.1_RNA|IKZF2_ENST00000342002.2_Missense_Mutation_p.Y464D|IKZF2_ENST00000374327.4_Missense_Mutation_p.Y313D|IKZF2_ENST00000434687.1_Missense_Mutation_p.Y458D|IKZF2_ENST00000374319.4_Missense_Mutation_p.Y432D|IKZF2_ENST00000421754.2_Missense_Mutation_p.Y384D|IKZF2_ENST00000413091.3_3'UTR	NM_016260.2	NP_057344.2	Q9UKS7	IKZF2_HUMAN	IKAROS family zinc finger 2 (Helios)	458					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Esophageal squamous(248;0.0559)|Renal(323;0.218)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792)		AAGACCTTGTAGATGTCCTTC	0.473													25	124					0	0	1	0	0	C	213872293	A	C	213872293	3	2	385	1	0	0	0	0	1	0	0	0	7659	420	15	5	212	5	IKZF2	2	213872293	Missense_Mutation	SNP	A	TCGA-QH-A6CX-01A-11D-A32B-08	23998634	213872293	29327080	13	32893											
SCN5A	6331	broad.mit.edu	37	3	38645309	38645309	+	Missense_Mutation	SNP	A	A	C			TCGA-QH-A6CX-01A-11D-A32B-08	TCGA-QH-A6CX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54e640a-a02a-4687-9325-d6485c4fb4bb	91d4fca0-37c3-45ef-b4c9-487046bcca69	g.chr3:38645309A>C	ENST00000413689.1	-	12	1977	c.1784T>G	c.(1783-1785)gTg>gGg	p.V595G	SCN5A_ENST00000333535.4_Missense_Mutation_p.V595G|SCN5A_ENST00000449557.2_Missense_Mutation_p.V595G|SCN5A_ENST00000414099.2_Missense_Mutation_p.V595G|SCN5A_ENST00000443581.1_Missense_Mutation_p.V595G|SCN5A_ENST00000450102.2_Missense_Mutation_p.V595G|SCN5A_ENST00000451551.2_Missense_Mutation_p.V595G|SCN5A_ENST00000423572.2_Missense_Mutation_p.V595G|SCN5A_ENST00000455624.2_Missense_Mutation_p.V595G|SCN5A_ENST00000425664.1_Missense_Mutation_p.V595G	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	595					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	ATTGCAGTCCACAGTGCTGTT	0.667													20	67					0	0	1	0	0	C	38645309	A	C	38645309	3	2	385	1	0	0	0	0	1	0	0	0	13976	159	6	5	4334	5	SCN5A	3	38645309	Missense_Mutation	SNP	A	TCGA-QH-A6CX-01A-11D-A32B-08		38645309	159377121	14	32894											
CCR9	10803	broad.mit.edu	37	3	45943164	45943164	+	Missense_Mutation	SNP	T	T	C			TCGA-QH-A6CX-01A-11D-A32B-08	TCGA-QH-A6CX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54e640a-a02a-4687-9325-d6485c4fb4bb	91d4fca0-37c3-45ef-b4c9-487046bcca69	g.chr3:45943164T>C	ENST00000357632.2	+	3	1064	c.884T>C	c.(883-885)aTt>aCt	p.I295T	LZTFL1_ENST00000539217.1_Intron|CCR9_ENST00000355983.2_Missense_Mutation_p.I283T|CCR9_ENST00000395963.2_Missense_Mutation_p.I283T|CCR9_ENST00000422395.1_3'UTR|LZTFL1_ENST00000536047.1_Intron	NM_001256369.1|NM_031200.2	NP_001243298.1|NP_112477.1	P51686	CCR9_HUMAN	chemokine (C-C motif) receptor 9	295					cellular defense response|chemotaxis|elevation of cytosolic calcium ion concentration|immune response	integral to plasma membrane				breast(1)|endometrium(4)|large_intestine(8)|lung(2)|ovary(2)|prostate(2)|skin(1)	20				BRCA - Breast invasive adenocarcinoma(193;0.00118)|KIRC - Kidney renal clear cell carcinoma(197;0.0182)|Kidney(197;0.0214)		TCCACCAACATTGACATCTGC	0.498													22	70					0	0	1	0	0	C	45943164	T	C	45943164	3	2	385	1	0	0	0	0	1	0	0	0	2970	1493	52	3	890	3	CCR9	3	45943164	Missense_Mutation	SNP	T	TCGA-QH-A6CX-01A-11D-A32B-08	7297855	45943164	152079266	15	32895											
OR5H14	403273	broad.mit.edu	37	3	97868982	97868982	+	Nonsense_Mutation	SNP	C	C	A			TCGA-QH-A6CX-01A-11D-A32B-08	TCGA-QH-A6CX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54e640a-a02a-4687-9325-d6485c4fb4bb	91d4fca0-37c3-45ef-b4c9-487046bcca69	g.chr3:97868982C>A	ENST00000437310.1	+	1	813	c.753C>A	c.(751-753)taC>taA	p.Y251*		NM_001005514.1	NP_001005514.1	A6NHG9	O5H14_HUMAN	olfactory receptor, family 5, subfamily H, member 14	251					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						TATCTTTATACTATGGGCCCC	0.413													8	34					5.4927e-09	5.78179e-09	1	1	0	A	97868982	C	A	97868982	4	1	385	1	0	0	0	0	0	1	0	0	11207	576	20	4	755	4	OR5H14	3	97868982	Nonsense_Mutation	SNP	C	TCGA-QH-A6CX-01A-11D-A32B-08	51925818	97868982	100153448	16	32896											
ABI3BP	25890	broad.mit.edu	37	3	100585771	100585771	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A6CX-01A-11D-A32B-08	TCGA-QH-A6CX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54e640a-a02a-4687-9325-d6485c4fb4bb	91d4fca0-37c3-45ef-b4c9-487046bcca69	g.chr3:100585771C>T	ENST00000471714.1	-	10	1070	c.961G>A	c.(961-963)Gaa>Aaa	p.E321K	ABI3BP_ENST00000284322.5_Missense_Mutation_p.E321K|ABI3BP_ENST00000495063.1_Missense_Mutation_p.E321K			Q7Z7G0	TARSH_HUMAN	ABI family, member 3 (NESH) binding protein	321						extracellular space				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						GTTTTAGATTCGGCAGGTAAT	0.373													3	36					0	0	1	0	0	T	100585771	C	T	100585771	3	4	385	1	0	0	0	0	1	0	0	0	91	893	31	1	2370	1	ABI3BP	3	100585771	Missense_Mutation	SNP	C	TCGA-QH-A6CX-01A-11D-A32B-08	2716789	100585771	97436659	17	32897											
TRIM42	287015	broad.mit.edu	37	3	140397391	140397391	+	Missense_Mutation	SNP	G	G	A	rs146449412		TCGA-QH-A6CX-01A-11D-A32B-08	TCGA-QH-A6CX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54e640a-a02a-4687-9325-d6485c4fb4bb	91d4fca0-37c3-45ef-b4c9-487046bcca69	g.chr3:140397391G>A	ENST00000286349.3	+	1	511	c.320G>A	c.(319-321)cGc>cAc	p.R107H		NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN	tripartite motif containing 42	107						intracellular	zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						CACAAGGGCCGCCTCAGGAGC	0.552													9	27					0	0	1	0	0	A	140397391	G	A	140397391	3	1	385	1	0	0	0	0	1	0	0	0	16578	1087	38	1	322	1	TRIM42	3	140397391	Missense_Mutation	SNP	G	TCGA-QH-A6CX-01A-11D-A32B-08	39811620	140397391	57625039	18	32898											
PCDHB6	56130	broad.mit.edu	37	5	140530216	140530216	+	Frame_Shift_Del	DEL	T	T	-			TCGA-QH-A6CX-01A-11D-A32B-08	TCGA-QH-A6CX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54e640a-a02a-4687-9325-d6485c4fb4bb	91d4fca0-37c3-45ef-b4c9-487046bcca69	g.chr5:140530216delT	ENST00000231136.1	+	1	378	c.378delT	c.(376-378)aatfs	p.N126fs	PCDHB6_ENST00000543635.1_5'UTR	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN		126	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	p.N126K(1)		cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GAGATATAAATGACCACGCCC	0.453													21	97	---	---	---	---						-	140530216	T	-	140530216	7	5	385	1	0	1	0	1	0	0	0	0	11593	1461	51	0	380	0	PCDHB6	5	140530216	Frame_Shift_Del	DEL	T	TCGA-QH-A6CX-01A-11D-A32B-08		140530216	40385044	19	32899											
PDE6A	5145	broad.mit.edu	37	5	149313501	149313501	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A6CX-01A-11D-A32B-08	TCGA-QH-A6CX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54e640a-a02a-4687-9325-d6485c4fb4bb	91d4fca0-37c3-45ef-b4c9-487046bcca69	g.chr5:149313501G>A	ENST00000255266.5	-	3	828	c.709C>T	c.(709-711)Cgt>Tgt	p.R237C		NM_000440.2	NP_000431.2	P16499	PDE6A_HUMAN	phosphodiesterase 6A, cGMP-specific, rod, alpha	237					cytosolic calcium ion homeostasis|GMP metabolic process|platelet activation|signal transduction|visual perception	cytosol|plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding	p.R237C(1)		breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	44			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			ACCTGGCCACGTCGAGTTTCA	0.473													6	10					0	0	1	0	0	A	149313501	G	A	149313501	3	1	385	1	0	0	0	0	1	0	0	0	11692	1145	40	1	1953	1	PDE6A	5	149313501	Missense_Mutation	SNP	G	TCGA-QH-A6CX-01A-11D-A32B-08	8783285	149313501	31601759	20	32900											
DOCK2	1794	broad.mit.edu	37	5	169127065	169127065	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A6CX-01A-11D-A32B-08	TCGA-QH-A6CX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54e640a-a02a-4687-9325-d6485c4fb4bb	91d4fca0-37c3-45ef-b4c9-487046bcca69	g.chr5:169127065C>T	ENST00000256935.8	+	13	1260	c.1180C>T	c.(1180-1182)Cgc>Tgc	p.R394C		NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	394					actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CATTCAGATTCGCAAGGACTA	0.562													22	111					0	0	1	0	0	T	169127065	C	T	169127065	3	4	385	1	0	0	0	0	1	0	0	0	4714	884	31	1	1230	1	DOCK2	5	169127065	Missense_Mutation	SNP	C	TCGA-QH-A6CX-01A-11D-A32B-08	19813564	169127065	11788195	21	32901											
SCAND3	114821	broad.mit.edu	37	6	28540855	28540855	+	Missense_Mutation	SNP	C	C	G			TCGA-QH-A6CX-01A-11D-A32B-08	TCGA-QH-A6CX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54e640a-a02a-4687-9325-d6485c4fb4bb	91d4fca0-37c3-45ef-b4c9-487046bcca69	g.chr6:28540855C>G	ENST00000452236.2	-	4	3428	c.2811G>C	c.(2809-2811)ttG>ttC	p.L937F		NM_052923.1	NP_443155.1	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	937					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						tgtttgtaggcaaagaggctg	0.318													6	13					0	0	1	0	0	G	28540855	C	G	28540855	3	3	385	1	0	0	0	0	1	0	0	0	13929	709	25	5	1170	5	SCAND3	6	28540855	Missense_Mutation	SNP	C	TCGA-QH-A6CX-01A-11D-A32B-08		28540855	142574212	22	32902											
RPS18	6222	broad.mit.edu	37	6	33243984	33243984	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A6CX-01A-11D-A32B-08	TCGA-QH-A6CX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54e640a-a02a-4687-9325-d6485c4fb4bb	91d4fca0-37c3-45ef-b4c9-487046bcca69	g.chr6:33243984G>A	ENST00000439602.2	+	5	433	c.323G>A	c.(322-324)cGt>cAt	p.R108H	RPS18_ENST00000474973.1_Missense_Mutation_p.R38H|RPS18_ENST00000476222.1_3'UTR			P62269	RS18_HUMAN	ribosomal protein S18	108					endocrine pancreas development|ribosome biogenesis|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit	rRNA binding|structural constituent of ribosome			kidney(2)|large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1)	9						AACAAGCTCCGTGAAGACCTG	0.572													3	27					0	0	1	0	0	A	33243984	G	A	33243984	3	1	385	1	0	0	0	0	1	0	0	0	13680	1145	40	1	341	1	RPS18	6	33243984	Missense_Mutation	SNP	G	TCGA-QH-A6CX-01A-11D-A32B-08	4703129	33243984	137871083	23	32903											
GJA10	84694	broad.mit.edu	37	6	90605138	90605138	+	Silent	SNP	T	T	C			TCGA-QH-A6CX-01A-11D-A32B-08	TCGA-QH-A6CX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54e640a-a02a-4687-9325-d6485c4fb4bb	91d4fca0-37c3-45ef-b4c9-487046bcca69	g.chr6:90605138T>C	ENST00000369352.1	+	1	951	c.951T>C	c.(949-951)aaT>aaC	p.N317N		NM_032602.1	NP_115991.1	Q969M2	CXA10_HUMAN	gap junction protein, alpha 10, 62kDa	317					synaptic transmission	connexon complex|integral to membrane	gap junction channel activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|skin(3)|urinary_tract(1)	37		all_cancers(76;5.71e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527)		BRCA - Breast invasive adenocarcinoma(108;0.0915)		ACCCTTCCAATGGGAAAAAGG	0.502													11	26					0	0	1	0	0	C	90605138	T	C	90605138	2	2	385	1	0	0	0	0	0	0	0	1	6443	1461	51	3		3	GJA10	6	90605138	Silent	SNP	T	TCGA-QH-A6CX-01A-11D-A32B-08	57361154	90605138	80509929	24	32904											
ROS1	6098	broad.mit.edu	37	6	117704649	117704649	+	Missense_Mutation	SNP	G	G	A	rs149313880	byFrequency	TCGA-QH-A6CX-01A-11D-A32B-08	TCGA-QH-A6CX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54e640a-a02a-4687-9325-d6485c4fb4bb	91d4fca0-37c3-45ef-b4c9-487046bcca69	g.chr6:117704649G>A	ENST00000368508.3	-	16	2525	c.2327C>T	c.(2326-2328)aCg>aTg	p.T776M	GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Missense_Mutation_p.T771M	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	776					transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		TGTGTGTCCCGTCAACACAGA	0.383			T	"GOPC, SDC4, SLC34A2, EZR, LRIG3"	"glioblastoma, NSCLC"								39	87					0	0	1	0	0	A	117704649	G	A	117704649	3	1	385	1	0	0	0	0	1	0	0	0	13583	1145	40	1	4828	1	ROS1	6	117704649	Missense_Mutation	SNP	G	TCGA-QH-A6CX-01A-11D-A32B-08	27099511	117704649	53410418	25	32905											
SYNE1	23345	broad.mit.edu	37	6	152722323	152722323	+	Silent	SNP	A	A	G			TCGA-QH-A6CX-01A-11D-A32B-08	TCGA-QH-A6CX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54e640a-a02a-4687-9325-d6485c4fb4bb	91d4fca0-37c3-45ef-b4c9-487046bcca69	g.chr6:152722323A>G	ENST00000367255.5	-	47	7580	c.6979T>C	c.(6979-6981)Ttg>Ctg	p.L2327L	SYNE1_ENST00000448038.1_Silent_p.L2334L|SYNE1_ENST00000341594.5_Silent_p.L2364L|SYNE1_ENST00000265368.4_Silent_p.L2327L|SYNE1_ENST00000423061.1_Silent_p.L2334L	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	2327					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CAGTTCATCAACGATTCTTCC	0.368										HNSCC(10;0.0054)			8	39					0	0	1	0	0	G	152722323	A	G	152722323	2	3	385	1	0	0	0	0	0	0	0	1	15502	40	2	3		3	SYNE1	6	152722323	Silent	SNP	A	TCGA-QH-A6CX-01A-11D-A32B-08	35017674	152722323	18392744	26	32906											
BBS9	27241	broad.mit.edu	37	7	33644509	33644509	+	Missense_Mutation	SNP	G	G	C			TCGA-QH-A6CX-01A-11D-A32B-08	TCGA-QH-A6CX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54e640a-a02a-4687-9325-d6485c4fb4bb	91d4fca0-37c3-45ef-b4c9-487046bcca69	g.chr7:33644509G>C	ENST00000242067.6	+	22	3075	c.2554G>C	c.(2554-2556)Gaa>Caa	p.E852Q	BBS9_ENST00000354265.4_Missense_Mutation_p.E817Q|BBS9_ENST00000396127.2_Missense_Mutation_p.E817Q|BBS9_ENST00000355070.2_Missense_Mutation_p.E847Q|BBS9_ENST00000350941.3_Missense_Mutation_p.E812Q	NM_198428.2	NP_940820.1	Q3SYG4	PTHB1_HUMAN	Bardet-Biedl syndrome 9	852					fat cell differentiation|response to stimulus|visual perception	BBSome|cilium membrane|microtubule organizing center|nucleus	protein binding		BBS9/PKD1L1(2)	NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	50			GBM - Glioblastoma multiforme(11;0.0894)			GTCAGACCTAGAAGAAAGATC	0.418									Bardet-Biedl syndrome				3	26					0	0	1	0	0	C	33644509	G	C	33644509	3	2	385	1	0	0	0	0	1	0	0	0	1340	943	33	4	2636	4	BBS9	7	33644509	Missense_Mutation	SNP	G	TCGA-QH-A6CX-01A-11D-A32B-08		33644509	125494154	27	32907											
EGFR	1956	broad.mit.edu	37	7	55223604	55223604	+	Missense_Mutation	SNP	G	G	T			TCGA-QH-A6CX-01A-11D-A32B-08	TCGA-QH-A6CX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54e640a-a02a-4687-9325-d6485c4fb4bb	91d4fca0-37c3-45ef-b4c9-487046bcca69	g.chr7:55223604G>T	ENST00000275493.2	+	8	1148	c.971G>T	c.(970-972)cGc>cTc	p.R324L	EGFR_ENST00000455089.1_Missense_Mutation_p.R279L|EGFR_ENST00000344576.2_Missense_Mutation_p.R324L|EGFR_ENST00000454757.2_Missense_Mutation_p.R271L|EGFR_ENST00000420316.2_Missense_Mutation_p.R324L|EGFR_ENST00000442591.1_Missense_Mutation_p.R324L|EGFR_ENST00000342916.3_Missense_Mutation_p.R324L	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	324					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.R324L(2)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	GACGGCGTCCGCAAGTGTAAG	0.602		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			207	32					1.69987e-119	1.8544e-119	1	1	0	T	55223604	G	T	55223604	3	4	385	1	0	0	0	0	1	0	0	0	4993	1087	38	5	1001	5	EGFR	7	55223604	Missense_Mutation	SNP	G	TCGA-QH-A6CX-01A-11D-A32B-08	21579095	55223604	103915059	28	32908											
STEAP1	26872	broad.mit.edu	37	7	89791296	89791296	+	Silent	SNP	G	G	A			TCGA-QH-A6CX-01A-11D-A32B-08	TCGA-QH-A6CX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54e640a-a02a-4687-9325-d6485c4fb4bb	91d4fca0-37c3-45ef-b4c9-487046bcca69	g.chr7:89791296G>A	ENST00000297205.2	+	4	866	c.666G>A	c.(664-666)ctG>ctA	p.L222L	STEAP2-AS1_ENST00000478318.2_RNA	NM_012449.2	NP_036581.1	Q9UHE8	STEA1_HUMAN	six transmembrane epithelial antigen of the prostate 1	222	Ferric oxidoreductase.				electron transport chain|ion transport|iron ion homeostasis	cell-cell junction|endosome membrane|integral to plasma membrane	channel activity|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity			kidney(2)|large_intestine(3)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	14	all_hematologic(106;0.112)					ATGTGTCTCTGGGAATTGTGG	0.393													33	154					0	0	1	0	0	A	89791296	G	A	89791296	2	1	385	1	0	0	0	0	0	0	0	1	15333	1335	47	2		2	STEAP1	7	89791296	Silent	SNP	G	TCGA-QH-A6CX-01A-11D-A32B-08	34567692	89791296	69347367	29	32909											
EFCAB1	79645	broad.mit.edu	37	8	49644012	49644012	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A6CX-01A-11D-A32B-08	TCGA-QH-A6CX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54e640a-a02a-4687-9325-d6485c4fb4bb	91d4fca0-37c3-45ef-b4c9-487046bcca69	g.chr8:49644012C>T	ENST00000262103.3	-	2	189	c.109G>A	c.(109-111)Gga>Aga	p.G37R	EFCAB1_ENST00000523092.1_Intron|EFCAB1_ENST00000433756.1_Intron|EFCAB1_ENST00000521002.1_Intron	NM_024593.3	NP_078869.1	Q9HAE3	EFCB1_HUMAN	EF-hand calcium binding domain 1	37							calcium ion binding	p.G37*(1)		endometrium(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(2)	14		all_epithelial(80;0.0134)|Lung NSC(129;0.0207)|all_lung(136;0.0464)				TCTACTCCTCCCACCAAGTCA	0.338													5	51					0	0	1	0	0	T	49644012	C	T	49644012	3	4	385	1	0	0	0	0	1	0	0	0	4959	632	22	2	546	2	EFCAB1	8	49644012	Missense_Mutation	SNP	C	TCGA-QH-A6CX-01A-11D-A32B-08		49644012	96720010	30	32910											
PTEN	5728	broad.mit.edu	37	10	89720852	89720852	+	Nonsense_Mutation	SNP	C	C	T	rs121909231		TCGA-QH-A6CX-01A-11D-A32B-08	TCGA-QH-A6CX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54e640a-a02a-4687-9325-d6485c4fb4bb	91d4fca0-37c3-45ef-b4c9-487046bcca69	g.chr10:89720852C>T	ENST00000371953.3	+	8	2360	c.1003C>T	c.(1003-1005)Cga>Tga	p.R335*	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	335	C2 tensin-type.				activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.R335*(25)|p.R55fs*1(5)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G165_*404del(1)|p.R335G(1)|p.W274_F341del(1)|p.D326_K342del(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		CAAAGCCAACCGATACTTTTC	0.333		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			9	56					0	0	1	0	0	T	89720852	C	T	89720852	4	4	385	1	0	0	0	0	0	1	0	0	12787	644	23	1	1033	1	PTEN	10	89720852	Nonsense_Mutation	SNP	C	TCGA-QH-A6CX-01A-11D-A32B-08		89720852	45813895	31	32911											
TH	7054	broad.mit.edu	37	11	2192950	2192950	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A6CX-01A-11D-A32B-08	TCGA-QH-A6CX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54e640a-a02a-4687-9325-d6485c4fb4bb	91d4fca0-37c3-45ef-b4c9-487046bcca69	g.chr11:2192950C>T	ENST00000381178.1	-	1	85	c.67G>A	c.(67-69)Gcc>Acc	p.A23T	TH_ENST00000333684.5_Missense_Mutation_p.A23T|TH_ENST00000381175.1_Missense_Mutation_p.A23T|TH_ENST00000352909.3_Missense_Mutation_p.A23T	NM_199292.2	NP_954986.2	P07101	TY3H_HUMAN	tyrosine hydroxylase	23					dopamine biosynthetic process from tyrosine|embryonic camera-type eye morphogenesis|epinephrine biosynthetic process|eye photoreceptor cell development|heart morphogenesis|hormone biosynthetic process|learning|locomotory behavior|memory|neurotransmitter biosynthetic process|neurotransmitter secretion|norepinephrine biosynthetic process|pigmentation|regulation of heart contraction|response to ethanol|response to hypoxia|synaptic transmission, dopaminergic|visual perception	cytosol|internal side of plasma membrane|melanosome membrane|nucleus|perikaryon|smooth endoplasmic reticulum	protein binding|tyrosine 3-monooxygenase activity			NS(1)|endometrium(1)|large_intestine(1)|lung(7)|skin(1)	11		all_epithelial(84;1.46e-23)|Lung NSC(207;4.44e-11)|all_lung(207;1.11e-09)|Ovarian(85;1.78e-06)|Breast(177;1.78e-05)|Medulloblastoma(188;0.0208)|all_neural(188;0.0416)	Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239)	BRCA - Breast invasive adenocarcinoma(625;8.45e-09)|Lung(200;0.000152)|LUSC - Lung squamous cell carcinoma(625;0.00154)	L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Metyrosine(DB00765)|Tetrahydrobiopterin(DB00360)	GCCTGCTTGGCGTCCAGCTCA	0.697													3	44					0	0	1	0	0	T	2192950	C	T	2192950	3	4	385	1	0	0	0	0	1	0	0	0	15898	768	27	1	1575	1	TH	11	2192950	Missense_Mutation	SNP	C	TCGA-QH-A6CX-01A-11D-A32B-08		2192950	132813566	32	32912											
UBE2L6	9246	broad.mit.edu	37	11	57322047	57322047	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A6CX-01A-11D-A32B-08	TCGA-QH-A6CX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54e640a-a02a-4687-9325-d6485c4fb4bb	91d4fca0-37c3-45ef-b4c9-487046bcca69	g.chr11:57322047G>A	ENST00000287156.4	-	3	368	c.173C>T	c.(172-174)cCg>cTg	p.P58L	UBE2L6_ENST00000340573.4_5'UTR	NM_004223.4	NP_004214.1	O14933	UB2L6_HUMAN	ubiquitin-conjugating enzyme E2L 6	58					negative regulation of type I interferon production	cytosol	protein binding|ubiquitin-protein ligase activity			large_intestine(1)|lung(3)|ovary(1)	5						ATACTCCGGCGGGAAGCTGAT	0.542													25	96					0	0	1	0	0	A	57322047	G	A	57322047	3	1	385	1	0	0	0	0	1	0	0	0	16925	1116	39	1	296	1	UBE2L6	11	57322047	Missense_Mutation	SNP	G	TCGA-QH-A6CX-01A-11D-A32B-08	55129097	57322047	77684469	33	32913											
MS4A5	64232	broad.mit.edu	37	11	60197174	60197174	+	Silent	SNP	G	G	A			TCGA-QH-A6CX-01A-11D-A32B-08	TCGA-QH-A6CX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54e640a-a02a-4687-9325-d6485c4fb4bb	91d4fca0-37c3-45ef-b4c9-487046bcca69	g.chr11:60197174G>A	ENST00000300190.2	+	1	113	c.27G>A	c.(25-27)ccG>ccA	p.P9P	MS4A5_ENST00000534071.1_3'UTR	NM_023945.2	NP_076434.2	Q9H3V2	MS4A5_HUMAN	membrane-spanning 4-domains, subfamily A, member 5	9						integral to membrane	receptor activity			large_intestine(7)|lung(7)|ovary(1)|skin(1)	16						CACACAGTCCGGTGTTTCTGG	0.423													10	100					0	0	1	0	0	A	60197174	G	A	60197174	2	1	385	1	0	0	0	0	0	0	0	1	9912	1103	39	1		1	MS4A5	11	60197174	Silent	SNP	G	TCGA-QH-A6CX-01A-11D-A32B-08	2875127	60197174	74809342	34	32914											
C11orf63	79864	broad.mit.edu	37	11	122817281	122817281	+	Silent	SNP	G	G	A			TCGA-QH-A6CX-01A-11D-A32B-08	TCGA-QH-A6CX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54e640a-a02a-4687-9325-d6485c4fb4bb	91d4fca0-37c3-45ef-b4c9-487046bcca69	g.chr11:122817281G>A	ENST00000227349.2	+	6	2007	c.1710G>A	c.(1708-1710)caG>caA	p.Q570Q	C11orf63_ENST00000531316.1_Silent_p.Q570Q	NM_024806.2	NP_079082.2	Q6NUN7	CK063_HUMAN	chromosome 11 open reading frame 63	570										breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	47		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)		TAATGGAGCAGCATCAGCAAG	0.483													12	60					0	0	1	0	0	A	122817281	G	A	122817281	2	1	385	1	0	0	0	0	0	0	0	1	1659	962	34	2		2	C11orf63	11	122817281	Silent	SNP	G	TCGA-QH-A6CX-01A-11D-A32B-08	62620107	122817281	12189235	35	32915											
RBM19	9904	broad.mit.edu	37	12	114374833	114374833	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A6CX-01A-11D-A32B-08	TCGA-QH-A6CX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54e640a-a02a-4687-9325-d6485c4fb4bb	91d4fca0-37c3-45ef-b4c9-487046bcca69	g.chr12:114374833C>T	ENST00000545145.2	-	16	2125	c.2047G>A	c.(2047-2049)Gac>Aac	p.D683N	RBM19_ENST00000392561.3_Missense_Mutation_p.D683N|RBM19_ENST00000261741.5_Missense_Mutation_p.D683N|RP11-780K2.1_ENST00000550206.1_RNA	NM_001146699.1	NP_001140171.1	Q9Y4C8	RBM19_HUMAN	RNA binding motif protein 19	683					multicellular organismal development|positive regulation of embryonic development	chromosome|cytoplasm|nucleolus|nucleoplasm	nucleotide binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4)	55	Medulloblastoma(191;0.163)|all_neural(191;0.178)					TCTGCTGGGTCCTTTTCCATG	0.557													24	107					0	0	1	0	0	T	114374833	C	T	114374833	3	4	385	1	0	0	0	0	1	0	0	0	13173	855	30	2	871	2	RBM19	12	114374833	Missense_Mutation	SNP	C	TCGA-QH-A6CX-01A-11D-A32B-08		114374833	19477062	36	32916											
SLC28A1	9154	broad.mit.edu	37	15	85476483	85476483	+	Silent	SNP	G	G	A			TCGA-QH-A6CX-01A-11D-A32B-08	TCGA-QH-A6CX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54e640a-a02a-4687-9325-d6485c4fb4bb	91d4fca0-37c3-45ef-b4c9-487046bcca69	g.chr15:85476483G>A	ENST00000394573.1	+	13	1393	c.1191G>A	c.(1189-1191)gaG>gaA	p.E397E	SLC28A1_ENST00000537216.1_Silent_p.E397E|SLC28A1_ENST00000286749.3_Silent_p.E397E|SLC28A1_ENST00000538177.1_Intron|SLC28A1_ENST00000537624.1_Silent_p.E397E	NM_004213.3	NP_004204.3	O00337	S28A1_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 1	397					nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	41			BRCA - Breast invasive adenocarcinoma(143;0.0587)			TTAGGAGGGAGGAAGGAGTGA	0.592													8	57					0	0	1	0	0	A	85476483	G	A	85476483	2	1	385	1	0	0	0	0	0	0	0	1	14586	991	35	2		2	SLC28A1	15	85476483	Silent	SNP	G	TCGA-QH-A6CX-01A-11D-A32B-08		85476483	17054909	37	32917											
IGF1R	3480	broad.mit.edu	37	15	99486176	99486176	+	Missense_Mutation	SNP	A	A	G			TCGA-QH-A6CX-01A-11D-A32B-08	TCGA-QH-A6CX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54e640a-a02a-4687-9325-d6485c4fb4bb	91d4fca0-37c3-45ef-b4c9-487046bcca69	g.chr15:99486176A>G	ENST00000268035.6	+	19	4093	c.3482A>G	c.(3481-3483)tAt>tGt	p.Y1161C	IGF1R_ENST00000558762.1_Missense_Mutation_p.Y1160C	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	1161	Protein kinase.				anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)	CGAGATATCTATGAGACAGAC	0.552													21	75					0	0	1	0	0	G	99486176	A	G	99486176	3	3	385	1	0	0	0	0	1	0	0	0	7615	449	16	3	3556	3	IGF1R	15	99486176	Missense_Mutation	SNP	A	TCGA-QH-A6CX-01A-11D-A32B-08	14009693	99486176	3045216	38	32918											
MLKL	197259	broad.mit.edu	37	16	74712848	74712848	+	Silent	SNP	G	G	A			TCGA-QH-A6CX-01A-11D-A32B-08	TCGA-QH-A6CX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54e640a-a02a-4687-9325-d6485c4fb4bb	91d4fca0-37c3-45ef-b4c9-487046bcca69	g.chr16:74712848G>A	ENST00000308807.7	-	7	1450	c.987C>T	c.(985-987)caC>caT	p.H329H	MLKL_ENST00000306247.7_Intron	NM_152649.2	NP_689862.1	Q8NB16	MLKL_HUMAN	mixed lineage kinase domain-like	329	Protein kinase.						ATP binding|protein binding|protein kinase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(6)|skin(1)|stomach(2)	19						TGATTTTTCCGTGGAGTTCAG	0.507													8	32					0	0	1	0	0	A	74712848	G	A	74712848	2	1	385	1	0	0	0	0	0	0	0	1	9667	1136	40	1		1	MLKL	16	74712848	Silent	SNP	G	TCGA-QH-A6CX-01A-11D-A32B-08		74712848	15641905	39	32919											
NF1	4763	broad.mit.edu	37	17	29556869	29556869	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A6CX-01A-11D-A32B-08	TCGA-QH-A6CX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54e640a-a02a-4687-9325-d6485c4fb4bb	91d4fca0-37c3-45ef-b4c9-487046bcca69	g.chr17:29556869C>T	ENST00000358273.4	+	22	3250	c.2867C>T	c.(2866-2868)aCc>aTc	p.T956I	NF1_ENST00000356175.3_Missense_Mutation_p.T956I	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	956					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TTGACTGATACCAATACTCAA	0.368			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			13	73					0	0	1	0	0	T	29556869	C	T	29556869	3	4	385	1	0	0	0	0	1	0	0	0	10403	507	18	2	3014	2	NF1	17	29556869	Missense_Mutation	SNP	C	TCGA-QH-A6CX-01A-11D-A32B-08		29556869	51638341	40	32920											
MLLT6	4302	broad.mit.edu	37	17	36869336	36869336	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A6CX-01A-11D-A32B-08	TCGA-QH-A6CX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54e640a-a02a-4687-9325-d6485c4fb4bb	91d4fca0-37c3-45ef-b4c9-487046bcca69	g.chr17:36869336G>A	ENST00000378137.5	+	9	1041	c.950G>A	c.(949-951)cGg>cAg	p.R317Q	MLLT6_ENST00000325718.7_Intron			P55198	AF17_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6	0					regulation of transcription, DNA-dependent	nucleus	protein binding|zinc ion binding			breast(3)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8	Breast(7;4.43e-21)					AGTGGGGGACGGCACTCAGGC	0.612			T	MLL	AL								3	44					0	0	1	0	0	A	36869336	G	A	36869336	3	1	385	1	0	0	0	0	1	0	0	0	9678	1131	39	1		1	MLLT6	17	36869336	Missense_Mutation	SNP	G	TCGA-QH-A6CX-01A-11D-A32B-08	7312467	36869336	44325874	41	32921											
MUC16	94025	broad.mit.edu	37	19	9058191	9058191	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A6CX-01A-11D-A32B-08	TCGA-QH-A6CX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54e640a-a02a-4687-9325-d6485c4fb4bb	91d4fca0-37c3-45ef-b4c9-487046bcca69	g.chr19:9058191G>A	ENST00000397910.4	-	3	29458	c.29255C>T	c.(29254-29256)tCc>tTc	p.S9752F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9754	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AAGAGGAGAGGAGGGGCTACT	0.473													7	27					0	0	1	0	0	A	9058191	G	A	9058191	3	1	385	1	0	0	0	0	1	0	0	0	10021	1174	41	2	14596	2	MUC16	19	9058191	Missense_Mutation	SNP	G	TCGA-QH-A6CX-01A-11D-A32B-08		9058191	50070792	42	32922											
CHAF1B	8208	broad.mit.edu	37	21	37785365	37785365	+	Silent	SNP	G	G	A			TCGA-QH-A6CX-01A-11D-A32B-08	TCGA-QH-A6CX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54e640a-a02a-4687-9325-d6485c4fb4bb	91d4fca0-37c3-45ef-b4c9-487046bcca69	g.chr21:37785365G>A	ENST00000314103.5	+	12	1396	c.1245G>A	c.(1243-1245)ccG>ccA	p.P415P		NM_005441.2	NP_005432.1	Q13112	CAF1B_HUMAN	chromatin assembly factor 1, subunit B (p60)						cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|cytoplasm	chromatin binding|histone binding|unfolded protein binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(2)	20						GACCCAGACCGGTAGAGGGAA	0.577													6	43					0	0	1	0	0	A	37785365	G	A	37785365	2	1	385	1	0	0	0	0	0	0	0	1	3334	1103	39	1		1	CHAF1B	21	37785365	Silent	SNP	G	TCGA-QH-A6CX-01A-11D-A32B-08		37785365	10344530	43	32923											
SERPIND1	3053	broad.mit.edu	37	22	21133990	21133990	+	Silent	SNP	C	C	T	rs144089172		TCGA-QH-A6CX-01A-11D-A32B-08	TCGA-QH-A6CX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54e640a-a02a-4687-9325-d6485c4fb4bb	91d4fca0-37c3-45ef-b4c9-487046bcca69	g.chr22:21133990C>T	ENST00000215727.5	+	2	673	c.390C>T	c.(388-390)aaC>aaT	p.N130N	SERPIND1_ENST00000406799.1_Silent_p.N130N|PI4KA_ENST00000466162.1_Intron|PI4KA_ENST00000255882.6_Intron|PI4KA_ENST00000572273.1_Intron	NM_000185.3	NP_000176.2	P05546	HEP2_HUMAN	serpin peptidase inhibitor, clade D (heparin cofactor), member 1	130					blood coagulation|chemotaxis|regulation of proteolysis	extracellular region	heparin binding|serine-type endopeptidase inhibitor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(11;6.16e-25)|all_epithelial(7;1.02e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)		Ardeparin(DB00407)	ACATCCTCAACGCCAAGTTCG	0.498													17	63					0	0	1	0	0	T	21133990	C	T	21133990	2	4	385	1	0	0	0	0	0	0	0	1	14164	535	19	1		1	SERPIND1	22	21133990	Silent	SNP	C	TCGA-QH-A6CX-01A-11D-A32B-08		21133990	30170576	44	32924											
ADRBK2	157	broad.mit.edu	37	22	26083560	26083560	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A6CX-01A-11D-A32B-08	TCGA-QH-A6CX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54e640a-a02a-4687-9325-d6485c4fb4bb	91d4fca0-37c3-45ef-b4c9-487046bcca69	g.chr22:26083560C>T	ENST00000324198.6	+	11	1075	c.883C>T	c.(883-885)Cgg>Tgg	p.R295W		NM_005160.3	NP_005151.2	P35626	ARBK2_HUMAN	adrenergic, beta, receptor kinase 2		Protein kinase.						ATP binding|beta-adrenergic receptor kinase activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(2)|skin(3)|stomach(2)	32					Adenosine triphosphate(DB00171)	GAAGGAGATGCGGTTTTATGC	0.418													3	63					0	0	1	0	0	T	26083560	C	T	26083560	3	4	385	1	0	0	0	0	1	0	0	0	343	759	27	1	925	1	ADRBK2	22	26083560	Missense_Mutation	SNP	C	TCGA-QH-A6CX-01A-11D-A32B-08	4949570	26083560	25221006	45	32925											
PRG4	10216	broad.mit.edu	37	1	186276640	186276640	+	Missense_Mutation	SNP	A	A	C			TCGA-QH-A6CY-01A-11D-A32B-08	TCGA-QH-A6CY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e810c032-3bcd-4baf-9e72-58ef00fb0ac7	27e7dbae-bfb7-4634-98cd-9f4211d864d6	g.chr1:186276640A>C	ENST00000445192.2	+	7	1834	c.1789A>C	c.(1789-1791)Acc>Ccc	p.T597P	PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367483.4_Missense_Mutation_p.T556P|PRG4_ENST00000367486.3_Missense_Mutation_p.T554P|PRG4_ENST00000367485.4_Missense_Mutation_p.T504P	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	597	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	p.T597P(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						ACCCACCACCACCAAGAAGCC	0.652													6	81					0	0	1	0	0	C	186276640	A	C	186276640	3	2	386	1	0	0	0	0	1	0	0	0	12533	159	6	5	1811	5	PRG4	1	186276640	Missense_Mutation	SNP	A	TCGA-QH-A6CY-01A-11D-A32B-08		186276640	62973981	1	32926											
LYST	1130	broad.mit.edu	37	1	235929502	235929502	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A6CY-01A-11D-A32B-08	TCGA-QH-A6CY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e810c032-3bcd-4baf-9e72-58ef00fb0ac7	27e7dbae-bfb7-4634-98cd-9f4211d864d6	g.chr1:235929502G>A	ENST00000389794.3	-	21	6172	c.5998C>T	c.(5998-6000)Ctt>Ttt	p.L2000F	LYST_ENST00000389793.2_Missense_Mutation_p.L2000F|LYST_ENST00000536965.1_3'UTR			Q99698	LYST_HUMAN	lysosomal trafficking regulator	2000					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			GGAGATCCAAGGACTTCTGCT	0.378													111	236					0	0	1	0	0	A	235929502	G	A	235929502	3	1	386	1	0	0	0	0	1	0	0	0	9174	1000	35	2	5539	2	LYST	1	235929502	Missense_Mutation	SNP	G	TCGA-QH-A6CY-01A-11D-A32B-08	49652862	235929502	13321119	2	32927											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-QH-A6CY-01A-11D-A32B-08	TCGA-QH-A6CY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e810c032-3bcd-4baf-9e72-58ef00fb0ac7	27e7dbae-bfb7-4634-98cd-9f4211d864d6	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	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								37	52					0	0	1	0	0	T	209113112	C	T	209113112	3	4	386	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-QH-A6CY-01A-11D-A32B-08		209113112	34086261	3	32928											
STAG1	10274	broad.mit.edu	37	3	136240172	136240172	+	Nonsense_Mutation	SNP	G	G	A			TCGA-QH-A6CY-01A-11D-A32B-08	TCGA-QH-A6CY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e810c032-3bcd-4baf-9e72-58ef00fb0ac7	27e7dbae-bfb7-4634-98cd-9f4211d864d6	g.chr3:136240172G>A	ENST00000383202.2	-	7	815	c.559C>T	c.(559-561)Cga>Tga	p.R187*	STAG1_ENST00000236698.5_Nonsense_Mutation_p.R187*|STAG1_ENST00000480733.1_Nonsense_Mutation_p.R187*|STAG1_ENST00000434713.2_5'UTR	NM_005862.2	NP_005853.2	Q8WVM7	STAG1_HUMAN	stromal antigen 1	187					cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase	cell junction|chromatin|chromosome, centromeric region|nucleoplasm	protein binding	p.R187*(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						TGACACTGTCGAATCAGGACT	0.398													4	196					0	0	1	0	0	A	136240172	G	A	136240172	4	1	386	1	0	0	0	0	0	1	0	0	15298	1066	37	1	3329	1	STAG1	3	136240172	Nonsense_Mutation	SNP	G	TCGA-QH-A6CY-01A-11D-A32B-08		136240172	61782258	4	32929											
ABCF3	55324	broad.mit.edu	37	3	183908941	183908941	+	Silent	SNP	G	G	A			TCGA-QH-A6CY-01A-11D-A32B-08	TCGA-QH-A6CY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e810c032-3bcd-4baf-9e72-58ef00fb0ac7	27e7dbae-bfb7-4634-98cd-9f4211d864d6	g.chr3:183908941G>A	ENST00000429586.2	+	16	1652	c.1467G>A	c.(1465-1467)ccG>ccA	p.P489P	ABCF3_ENST00000292808.5_Silent_p.P483P|EIF2B5_ENST00000444495.1_Intron	NM_018358.2	NP_060828.2	Q9NUQ8	ABCF3_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 3	489							ATP binding|ATPase activity			breast(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(20)|ovary(3)|prostate(5)|upper_aerodigestive_tract(1)	39	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.35e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			AGTTCTCGCCGCCAATTCTGC	0.567													5	180					0	0	1	0	0	A	183908941	G	A	183908941	2	1	386	1	0	0	0	0	0	0	0	1	67	1074	38	1		1	ABCF3	3	183908941	Silent	SNP	G	TCGA-QH-A6CY-01A-11D-A32B-08	47668769	183908941	14113489	5	32930											
ABLIM2	84448	broad.mit.edu	37	4	8055951	8055951	+	Silent	SNP	C	C	T			TCGA-QH-A6CY-01A-11D-A32B-08	TCGA-QH-A6CY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e810c032-3bcd-4baf-9e72-58ef00fb0ac7	27e7dbae-bfb7-4634-98cd-9f4211d864d6	g.chr4:8055951C>T	ENST00000318888.4	-	8	928	c.57G>A	c.(55-57)gcG>gcA	p.A19A	ABLIM2_ENST00000361581.5_Silent_p.A262A|ABLIM2_ENST00000341937.5_Silent_p.A262A|ABLIM2_ENST00000545242.1_Silent_p.A262A|ABLIM2_ENST00000296372.8_Silent_p.A262A|ABLIM2_ENST00000361737.5_Silent_p.A262A|ABLIM2_ENST00000546334.1_Silent_p.A262A|ABLIM2_ENST00000447017.2_Silent_p.A262A|ABLIM2_ENST00000407564.3_Silent_p.A262A|ABLIM2_ENST00000428004.2_Silent_p.A262A|ABLIM2_ENST00000514025.1_Silent_p.A19A|ABLIM2_ENST00000505872.1_Silent_p.A262A			Q6H8Q1	ABLM2_HUMAN	actin binding LIM protein family, member 2	262					axon guidance|cytoskeleton organization	actin cytoskeleton|cytoplasm|intermediate filament cytoskeleton|nucleus	actin binding|zinc ion binding			NS(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|pancreas(3)|prostate(2)|urinary_tract(1)	25						CTTGTCGACACGCCGGATGCC	0.502													15	46					0	0	1	0	0	T	8055951	C	T	8055951	2	4	386	1	0	0	0	0	0	0	0	1	95	523	19	1		1	ABLIM2	4	8055951	Silent	SNP	C	TCGA-QH-A6CY-01A-11D-A32B-08		8055951	183098325	6	32931											
GPR125	166647	broad.mit.edu	37	4	22390725	22390725	+	Silent	SNP	C	C	T			TCGA-QH-A6CY-01A-11D-A32B-08	TCGA-QH-A6CY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e810c032-3bcd-4baf-9e72-58ef00fb0ac7	27e7dbae-bfb7-4634-98cd-9f4211d864d6	g.chr4:22390725C>T	ENST00000334304.5	-	18	2978	c.2709G>A	c.(2707-2709)cgG>cgA	p.R903R	GPR125_ENST00000282943.5_5'UTR	NM_145290.3	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	903					neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity	p.R903R(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				GTGCGTTTGGCCGACTGCCGT	0.418													5	384					0	0	1	0	0	T	22390725	C	T	22390725	2	4	386	1	0	0	0	0	0	0	0	1	6679	726	26	2		2	GPR125	4	22390725	Silent	SNP	C	TCGA-QH-A6CY-01A-11D-A32B-08	14334774	22390725	168763551	7	32932											
ANKRD17	26057	broad.mit.edu	37	4	73957008	73957008	+	Nonsense_Mutation	SNP	C	C	A			TCGA-QH-A6CY-01A-11D-A32B-08	TCGA-QH-A6CY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e810c032-3bcd-4baf-9e72-58ef00fb0ac7	27e7dbae-bfb7-4634-98cd-9f4211d864d6	g.chr4:73957008C>A	ENST00000358602.4	-	29	6453	c.6337G>T	c.(6337-6339)Gga>Tga	p.G2113*	ANKRD17_ENST00000509867.2_Nonsense_Mutation_p.G2000*|ANKRD17_ENST00000330838.6_Nonsense_Mutation_p.G1862*	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	2113					interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GAAACAGATCCCGGAGGTTGT	0.483													15	182					3.27435e-08	3.48335e-08	1	1	0	A	73957008	C	A	73957008	4	1	386	1	0	0	0	0	0	1	0	0	642	632	22	5	1498	5	ANKRD17	4	73957008	Nonsense_Mutation	SNP	C	TCGA-QH-A6CY-01A-11D-A32B-08	51566283	73957008	117197268	8	32933											
PTPN13	5783	broad.mit.edu	37	4	87696669	87696669	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A6CY-01A-11D-A32B-08	TCGA-QH-A6CY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e810c032-3bcd-4baf-9e72-58ef00fb0ac7	27e7dbae-bfb7-4634-98cd-9f4211d864d6	g.chr4:87696669G>A	ENST00000436978.1	+	35	6250	c.5770G>A	c.(5770-5772)Gca>Aca	p.A1924T	PTPN13_ENST00000411767.2_Missense_Mutation_p.A1919T|PTPN13_ENST00000427191.2_Missense_Mutation_p.A1900T|PTPN13_ENST00000511467.1_Missense_Mutation_p.A1924T|PTPN13_ENST00000316707.6_Missense_Mutation_p.A1728T	NM_080683.2|NM_080685.2	NP_542414.1|NP_542416.1	Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	1919	PDZ 5.					cytoplasm|cytoskeleton|plasma membrane	protein binding|protein tyrosine phosphatase activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		AAGGTCCGTCGCAGCCATTGA	0.383													6	31					0	0	1	0	0	A	87696669	G	A	87696669	3	1	386	1	0	0	0	0	1	0	0	0	12832	1087	38	1	5904	1	PTPN13	4	87696669	Missense_Mutation	SNP	G	TCGA-QH-A6CY-01A-11D-A32B-08	13739661	87696669	103457607	9	32934											
OCLN	100506658	broad.mit.edu	37	5	68849441	68849441	+	Missense_Mutation	SNP	G	G	C	rs140334684	by1000genomes	TCGA-QH-A6CY-01A-11D-A32B-08	TCGA-QH-A6CY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e810c032-3bcd-4baf-9e72-58ef00fb0ac7	27e7dbae-bfb7-4634-98cd-9f4211d864d6	g.chr5:68849441G>C	ENST00000355237.2	+	9	1948	c.1512G>C	c.(1510-1512)aaG>aaC	p.K504N	OCLN_ENST00000380766.2_Missense_Mutation_p.K450N|OCLN_ENST00000396442.2_Missense_Mutation_p.K504N|OCLN_ENST00000542132.1_Missense_Mutation_p.K182N|OCLN_ENST00000514370.1_3'UTR|OCLN_ENST00000538151.1_Missense_Mutation_p.K253N	NM_002538.3	NP_002529.1	Q16625	OCLN_HUMAN	occludin	504					cellular component disassembly involved in apoptosis|protein complex assembly	integral to membrane|tight junction	protein binding|structural molecule activity			endometrium(2)|large_intestine(1)|liver(1)|prostate(1)|skin(1)	6		Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174)		AGCAGTTAAAGAGCAAATTGT	0.348													5	72					0	0	1	0	0	C	68849441	G	C	68849441	3	2	386	1	0	0	0	0	1	0	0	0	10868	933	33	4	1542	4	OCLN	5	68849441	Missense_Mutation	SNP	G	TCGA-QH-A6CY-01A-11D-A32B-08		68849441	112065819	10	32935											
IQGAP2	10788	broad.mit.edu	37	5	75967776	75967776	+	Silent	SNP	G	G	T			TCGA-QH-A6CY-01A-11D-A32B-08	TCGA-QH-A6CY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e810c032-3bcd-4baf-9e72-58ef00fb0ac7	27e7dbae-bfb7-4634-98cd-9f4211d864d6	g.chr5:75967776G>T	ENST00000274364.6	+	24	3333	c.3036G>T	c.(3034-3036)gtG>gtT	p.V1012V	IQGAP2_ENST00000502745.1_Silent_p.V508V|IQGAP2_ENST00000379730.3_Silent_p.V514V|IQGAP2_ENST00000396234.3_Silent_p.V508V	NM_006633.2	NP_006624	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	1012	Ras-GAP.				small GTPase mediated signal transduction	actin cytoskeleton	actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		AGGCTTGGGTGAACCAACTAG	0.433													16	14					6.94344e-10	7.54722e-10	1	1	0	T	75967776	G	T	75967776	2	4	386	1	0	0	0	0	0	0	0	1	7859	1277	45	5		5	IQGAP2	5	75967776	Silent	SNP	G	TCGA-QH-A6CY-01A-11D-A32B-08	7118335	75967776	104947484	11	32936											
SNAP91	9892	broad.mit.edu	37	6	84366496	84366496	+	Missense_Mutation	SNP	T	T	C			TCGA-QH-A6CY-01A-11D-A32B-08	TCGA-QH-A6CY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e810c032-3bcd-4baf-9e72-58ef00fb0ac7	27e7dbae-bfb7-4634-98cd-9f4211d864d6	g.chr6:84366496T>C	ENST00000428679.2	-	7	1228	c.635A>G	c.(634-636)aAt>aGt	p.N212S	SNAP91_ENST00000369694.2_Missense_Mutation_p.N212S|SNAP91_ENST00000437520.1_Missense_Mutation_p.N212S|SNAP91_ENST00000520302.1_Missense_Mutation_p.N212S|SNAP91_ENST00000439399.2_Missense_Mutation_p.N212S|SNAP91_ENST00000521743.1_Missense_Mutation_p.N212S|SNAP91_ENST00000195649.6_Missense_Mutation_p.N212S|SNAP91_ENST00000520213.1_Missense_Mutation_p.N212S|SNAP91_ENST00000521485.1_Missense_Mutation_p.N212S			O60641	AP180_HUMAN	synaptosomal-associated protein, 91kDa	212					clathrin coat assembly	clathrin coat|coated pit|plasma membrane	1-phosphatidylinositol binding|clathrin binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		AACACCATCATTGTAGCAAGC	0.383													3	22					0	0	1	0	0	C	84366496	T	C	84366496	3	2	386	1	0	0	0	0	1	0	0	0	14887	1493	52	3	2176	3	SNAP91	6	84366496	Missense_Mutation	SNP	T	TCGA-QH-A6CY-01A-11D-A32B-08		84366496	86748571	12	32937											
DLC1	10395	broad.mit.edu	37	8	13357011	13357011	+	Silent	SNP	G	G	A			TCGA-QH-A6CY-01A-11D-A32B-08	TCGA-QH-A6CY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e810c032-3bcd-4baf-9e72-58ef00fb0ac7	27e7dbae-bfb7-4634-98cd-9f4211d864d6	g.chr8:13357011G>A	ENST00000276297.4	-	2	979	c.570C>T	c.(568-570)agC>agT	p.S190S	DLC1_ENST00000316609.5_Silent_p.S190S|DLC1_ENST00000511869.1_Silent_p.S190S	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1	190					actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						AAAGCTCCAGGCTTTTACTTA	0.383													7	281					0	0	1	0	0	A	13357011	G	A	13357011	2	1	386	1	0	0	0	0	0	0	0	1	4578	1194	42	2		2	DLC1	8	13357011	Silent	SNP	G	TCGA-QH-A6CY-01A-11D-A32B-08		13357011	133007011	13	32938											
CEL	1056	broad.mit.edu	37	9	135946995	135946995	+	Silent	SNP	C	C	T			TCGA-QH-A6CY-01A-11D-A32B-08	TCGA-QH-A6CY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e810c032-3bcd-4baf-9e72-58ef00fb0ac7	27e7dbae-bfb7-4634-98cd-9f4211d864d6	g.chr9:135946995C>T	ENST00000372080.4	+	11	2131	c.2115C>T	c.(2113-2115)ccC>ccT	p.P705P	CEL_ENST00000351304.7_Silent_p.P636P	NM_001807.3	NP_001798.2	P19835	CEL_HUMAN	carboxyl ester lipase	702	17 X 11 AA tandem repeats, glycodomain, O-linked (mucin type).				cholesterol catabolic process|fatty acid catabolic process|intestinal cholesterol absorption|intestinal lipid catabolic process|pancreatic juice secretion|protein esterification	cytosol|extracellular space	acylglycerol lipase activity|carboxylesterase activity|heparin binding|sterol esterase activity|triglyceride lipase activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|pancreas(2)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196)		GGGCCCCCCCCGTGACCCCCA	0.816													3	8					0	0	1	0	0	T	135946995	C	T	135946995	2	4	386	1	0	0	0	0	0	0	0	1	3231	639	23	1		1	CEL	9	135946995	Silent	SNP	C	TCGA-QH-A6CY-01A-11D-A32B-08		135946995	5266436	14	32939											
CCDC6	8030	broad.mit.edu	37	10	61564190	61564190	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A6CY-01A-11D-A32B-08	TCGA-QH-A6CY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e810c032-3bcd-4baf-9e72-58ef00fb0ac7	27e7dbae-bfb7-4634-98cd-9f4211d864d6	g.chr10:61564190G>A	ENST00000263102.6	-	7	1324	c.1093C>T	c.(1093-1095)Cct>Tct	p.P365S		NM_005436.4	NP_005427.2	Q16204	CCDC6_HUMAN	coiled-coil domain containing 6	365						cytoplasm|cytoskeleton	SH3 domain binding|structural constituent of cytoskeleton		CCDC6/RET(4)	breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(3)|stomach(1)	18				Kidney(211;0.0597)		GGTGATATAGGCCTGCTTGAA	0.458			T	RET	NSCLC								32	68					0	0	1	0	0	A	61564190	G	A	61564190	3	1	386	1	0	0	0	0	1	0	0	0	2850	1203	42	2	343	2	CCDC6	10	61564190	Missense_Mutation	SNP	G	TCGA-QH-A6CY-01A-11D-A32B-08		61564190	73970557	15	32940											
IRF7	3665	broad.mit.edu	37	11	615146	615146	+	Missense_Mutation	SNP	T	T	G			TCGA-QH-A6CY-01A-11D-A32B-08	TCGA-QH-A6CY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e810c032-3bcd-4baf-9e72-58ef00fb0ac7	27e7dbae-bfb7-4634-98cd-9f4211d864d6	g.chr11:615146T>G	ENST00000397566.1	-	1	582	c.173A>C	c.(172-174)aAg>aCg	p.K58T	IRF7_ENST00000330243.5_Missense_Mutation_p.K58T|IRF7_ENST00000397562.3_5'UTR|IRF7_ENST00000348655.6_Missense_Mutation_p.K45T|IRF7_ENST00000525445.1_5'UTR|IRF7_ENST00000397570.1_Missense_Mutation_p.K45T|IRF7_ENST00000397574.2_Missense_Mutation_p.K45T	NM_004031.2	NP_004022.2	Q92985	IRF7_HUMAN	interferon regulatory factor 7	45					interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of interferon-alpha production|positive regulation of transcription from RNA polymerase II promoter|response to virus|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytosol|endosome membrane|nucleoplasm|plasma membrane	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(49;1.69e-08)|all_epithelial(84;1.65e-05)|Breast(177;0.000231)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;7.68e-28)|Epithelial(43;7.44e-27)|OV - Ovarian serous cystadenocarcinoma(40;3.53e-21)|BRCA - Breast invasive adenocarcinoma(625;6.96e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CGCGAAGTGCTTCCAGGGCAC	0.697													6	14					0	0	1	0	0	G	615146	T	G	615146	3	3	386	1	0	0	0	0	1	0	0	0	7879	1609	56	5	1413	5	IRF7	11	615146	Missense_Mutation	SNP	T	TCGA-QH-A6CY-01A-11D-A32B-08		615146	134391370	16	32941											
ARFIP2	23647	broad.mit.edu	37	11	6501609	6501609	+	Missense_Mutation	SNP	G	G	T			TCGA-QH-A6CY-01A-11D-A32B-08	TCGA-QH-A6CY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e810c032-3bcd-4baf-9e72-58ef00fb0ac7	27e7dbae-bfb7-4634-98cd-9f4211d864d6	g.chr11:6501609G>T	ENST00000254584.2	-	2	126	c.43C>A	c.(43-45)Cct>Act	p.P15T	ARFIP2_ENST00000423813.2_Intron|ARFIP2_ENST00000525235.1_Missense_Mutation_p.P15T|ARFIP2_ENST00000445086.2_Intron|ARFIP2_ENST00000396777.3_Missense_Mutation_p.P15T	NM_012402.3	NP_036534.1	P53365	ARFP2_HUMAN	ADP-ribosylation factor interacting protein 2	15					actin cytoskeleton organization|cellular component movement|lamellipodium assembly|ruffle organization|small GTPase mediated signal transduction	cell cortex|plasma membrane|ruffle	GTP binding|GTP-dependent protein binding|Rac GTPase binding			endometrium(2)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|skin(2)	15		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;3.41e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CCGTGGATAGGGATCTCCATT	0.517													13	27					0.000308642	0.000321502	1	1	0	T	6501609	G	T	6501609	3	4	386	1	0	0	0	0	1	0	0	0	852	1232	43	5	1010	5	ARFIP2	11	6501609	Missense_Mutation	SNP	G	TCGA-QH-A6CY-01A-11D-A32B-08	5886463	6501609	128504907	17	32942											
OR4C16	219428	broad.mit.edu	37	11	55339695	55339695	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A6CY-01A-11D-A32B-08	TCGA-QH-A6CY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e810c032-3bcd-4baf-9e72-58ef00fb0ac7	27e7dbae-bfb7-4634-98cd-9f4211d864d6	g.chr11:55339695G>A	ENST00000314634.3	+	1	92	c.92G>A	c.(91-93)cGt>cAt	p.R31H		NM_001004701.2	NP_001004701.2	Q8NGL9	OR4CG_HUMAN	olfactory receptor, family 4, subfamily C, member 16 (gene/pseudogene)	31					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R31H(2)|p.R31L(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41		all_epithelial(135;0.0748)				ATTTTTTTGCGTCTCTACTTG	0.368													59	110					0	0	1	0	0	A	55339695	G	A	55339695	3	1	386	1	0	0	0	0	1	0	0	0	11097	1145	40	1	94	1	OR4C16	11	55339695	Missense_Mutation	SNP	G	TCGA-QH-A6CY-01A-11D-A32B-08	48838086	55339695	79666821	18	32943											
SLC7A1	6541	broad.mit.edu	37	13	30091751	30091751	+	Missense_Mutation	SNP	T	T	C			TCGA-QH-A6CY-01A-11D-A32B-08	TCGA-QH-A6CY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e810c032-3bcd-4baf-9e72-58ef00fb0ac7	27e7dbae-bfb7-4634-98cd-9f4211d864d6	g.chr13:30091751T>C	ENST00000380752.5	-	10	1855	c.1469A>G	c.(1468-1470)aAa>aGa	p.K490R	SLC7A1_ENST00000473577.1_5'UTR	NM_003045.4	NP_003036.1	P30825	CTR1_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 1	490					cellular nitrogen compound metabolic process|ion transport	integral to plasma membrane	receptor activity			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|stomach(1)|urinary_tract(2)	24		Lung SC(185;0.0257)|Breast(139;0.238)		all cancers(112;0.0148)|OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(112;0.0875)|GBM - Glioblastoma multiforme(144;0.179)	L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	CCCAGAGATTTTGGAAGGCTC	0.473													90	86					0	0	1	0	0	C	30091751	T	C	30091751	3	2	386	1	0	0	0	0	1	0	0	0	14747	1841	64	3	436	3	SLC7A1	13	30091751	Missense_Mutation	SNP	T	TCGA-QH-A6CY-01A-11D-A32B-08		30091751	85078127	19	32944											
TOX4	9878	broad.mit.edu	37	14	21961060	21961062	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-QH-A6CY-01A-11D-A32B-08	TCGA-QH-A6CY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e810c032-3bcd-4baf-9e72-58ef00fb0ac7	27e7dbae-bfb7-4634-98cd-9f4211d864d6	g.chr14:21961060_21961062delGCT	ENST00000405508.1	+	8	1561_1563	c.1285_1287delGCT	c.(1285-1287)gctdel	p.A434del	TOX4_ENST00000262709.3_In_Frame_Del_p.A434del|TOX4_ENST00000448790.2_In_Frame_Del_p.A411del			O94842	TOX4_HUMAN	TOX high mobility group box family member 4	434	Gln/Pro-rich.|Poly-Ala.					chromatin|nucleus|PTW/PP1 phosphatase complex	DNA binding|protein binding	p.A429A(1)		large_intestine(8)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(95;0.000465)		Epithelial(56;6.61e-06)|all cancers(55;5.15e-05)	GBM - Glioblastoma multiforme(265;0.0149)		GGCAGCAGCAGCTGCTGCTGCTG	0.581													7	285	---	---	---	---						-	21961062	GCT	-	21961060	7	5	386	1	0	1	0	1	0	0	0	0	16441	971	34	0	1311	0	TOX4	14	21961060	In_Frame_Del	DEL	GCT	TCGA-QH-A6CY-01A-11D-A32B-08		21961060	85388480	20	32945											
PARP16	54956	broad.mit.edu	37	15	65563325	65563325	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A6CY-01A-11D-A32B-08	TCGA-QH-A6CY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e810c032-3bcd-4baf-9e72-58ef00fb0ac7	27e7dbae-bfb7-4634-98cd-9f4211d864d6	g.chr15:65563325C>T	ENST00000261888.6	-	2	705	c.260G>A	c.(259-261)aGc>aAc	p.S87N	PARP16_ENST00000558873.1_5'UTR|PARP16_ENST00000444347.2_Intron	NM_017851.4	NP_060321.3	Q8N5Y8	PAR16_HUMAN	poly (ADP-ribose) polymerase family, member 16	87	PARP catalytic.					integral to membrane	NAD+ ADP-ribosyltransferase activity			kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)	9						TAAAATCCAGCTCACCAGGTC	0.532													5	445					0	0	1	0	0	T	65563325	C	T	65563325	3	4	386	1	0	0	0	0	1	0	0	0	11507	797	28	2	731	2	PARP16	15	65563325	Missense_Mutation	SNP	C	TCGA-QH-A6CY-01A-11D-A32B-08		65563325	36968067	21	32946											
IRF8	3394	broad.mit.edu	37	16	85954816	85954816	+	Silent	SNP	C	C	T			TCGA-QH-A6CY-01A-11D-A32B-08	TCGA-QH-A6CY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e810c032-3bcd-4baf-9e72-58ef00fb0ac7	27e7dbae-bfb7-4634-98cd-9f4211d864d6	g.chr16:85954816C>T	ENST00000268638.5	+	9	1631	c.1209C>T	c.(1207-1209)ttC>ttT	p.F403F	IRF8_ENST00000562492.1_Silent_p.F199F	NM_002163.2	NP_002154.1	Q02556	IRF8_HUMAN	interferon regulatory factor 8	403					interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	nucleus	DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	24		Prostate(104;0.0771)				ACCAGGTCTTCCGGATGTTTC	0.587													6	113					0	0	1	0	0	T	85954816	C	T	85954816	2	4	386	1	0	0	0	0	0	0	0	1	7880	854	30	2		2	IRF8	16	85954816	Silent	SNP	C	TCGA-QH-A6CY-01A-11D-A32B-08		85954816	4399937	22	32947											
ZNF778	197320	broad.mit.edu	37	16	89293578	89293578	+	Silent	SNP	C	C	T			TCGA-QH-A6CY-01A-11D-A32B-08	TCGA-QH-A6CY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e810c032-3bcd-4baf-9e72-58ef00fb0ac7	27e7dbae-bfb7-4634-98cd-9f4211d864d6	g.chr16:89293578C>T	ENST00000433976.2	+	6	1130	c.798C>T	c.(796-798)gcC>gcT	p.A266A	RP11-46C24.6_ENST00000563182.1_RNA|ZNF778_ENST00000306502.6_Silent_p.A224A	NM_001201407.1|NM_182531.3	NP_001188336.1|NP_872337.2	Q96MU6	ZN778_HUMAN	zinc finger protein 778	266					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|skin(2)	24				BRCA - Breast invasive adenocarcinoma(80;0.0269)		GGTACACTGCCTACCTTACTG	0.527													4	85					0	0	1	0	0	T	89293578	C	T	89293578	2	4	386	1	0	0	0	0	0	0	0	1	18200	668	24	2		2	ZNF778	16	89293578	Silent	SNP	C	TCGA-QH-A6CY-01A-11D-A32B-08	3338762	89293578	1061175	23	32948											
MED9	55090	broad.mit.edu	37	17	17394705	17394707	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-QH-A6CY-01A-11D-A32B-08	TCGA-QH-A6CY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e810c032-3bcd-4baf-9e72-58ef00fb0ac7	27e7dbae-bfb7-4634-98cd-9f4211d864d6	g.chr17:17394705_17394707delCAG	ENST00000268711.3	+	2	393_395	c.337_339delCAG	c.(337-339)cagdel	p.Q117del		NM_018019.2	NP_060489.1	Q9NWA0	MED9_HUMAN	mediator complex subunit 9	117					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		protein binding			cervix(1)|endometrium(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						GAGCCCCGAACAGCAGCAGCAGC	0.581													7	196	---	---	---	---						-	17394707	CAG	-	17394705	7	5	386	1	0	1	0	1	0	0	0	0	9504	479	17	0	343	0	MED9	17	17394705	In_Frame_Del	DEL	CAG	TCGA-QH-A6CY-01A-11D-A32B-08		17394705	63800505	24	32949											
KRT28	162605	broad.mit.edu	37	17	38950240	38950240	+	Missense_Mutation	SNP	G	G	A	rs150448547		TCGA-QH-A6CY-01A-11D-A32B-08	TCGA-QH-A6CY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e810c032-3bcd-4baf-9e72-58ef00fb0ac7	27e7dbae-bfb7-4634-98cd-9f4211d864d6	g.chr17:38950240G>A	ENST00000306658.7	-	6	1102	c.1037C>T	c.(1036-1038)gCg>gTg	p.A346V		NM_181535.3	NP_853513.2	Q7Z3Y7	K1C28_HUMAN	keratin 28	346	Coil 2.|Rod.					cytoplasm|intermediate filament	structural molecule activity			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30		Breast(137;0.000301)				CTGGATCTGCGCCAGCTGCGT	0.577													15	275					0	0	1	0	0	A	38950240	G	A	38950240	3	1	386	1	0	0	0	0	1	0	0	0	8508	1087	38	1	369	1	KRT28	17	38950240	Missense_Mutation	SNP	G	TCGA-QH-A6CY-01A-11D-A32B-08	21555535	38950240	42244970	25	32950											
ABCC3	8714	broad.mit.edu	37	17	48755185	48755185	+	Silent	SNP	G	G	A			TCGA-QH-A6CY-01A-11D-A32B-08	TCGA-QH-A6CY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e810c032-3bcd-4baf-9e72-58ef00fb0ac7	27e7dbae-bfb7-4634-98cd-9f4211d864d6	g.chr17:48755185G>A	ENST00000285238.8	+	24	3539	c.3459G>A	c.(3457-3459)gaG>gaA	p.E1153E		NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 3	1153	ABC transmembrane type-1 2.				bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Glibenclamide(DB01016)	ACTTTTCGGAGACAGTGACTG	0.547													6	315					0	0	1	0	0	A	48755185	G	A	48755185	2	1	386	1	0	0	0	0	0	0	0	1	54	933	33	2		2	ABCC3	17	48755185	Silent	SNP	G	TCGA-QH-A6CY-01A-11D-A32B-08	9804945	48755185	32440025	26	32951											
ITGB4	3691	broad.mit.edu	37	17	73725516	73725516	+	Splice_Site	SNP	C	C	T			TCGA-QH-A6CY-01A-11D-A32B-08	TCGA-QH-A6CY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e810c032-3bcd-4baf-9e72-58ef00fb0ac7	27e7dbae-bfb7-4634-98cd-9f4211d864d6	g.chr17:73725516C>T	ENST00000200181.3	+	7	924	c.737C>T	c.(736-738)aCg>aTg	p.T246M	ITGB4_ENST00000450894.3_Splice_Site_p.T246M|ITGB4_ENST00000584558.1_3'UTR|ITGB4_ENST00000339591.3_Splice_Site_p.T246M|ITGB4_ENST00000579662.1_Splice_Site_p.T246M|ITGB4_ENST00000449880.2_Splice_Site_p.T246M	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	246	VWFA.				cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			GCTGTGTGCACGGTGGGCACT	0.637													8	18					0	0	1	0	0	T	73725516	C	T	73725516	5	4	386	1	0	0	0	0	0	0	1	0	7941	550	19	1	759	1	ITGB4	17	73725516	Splice_Site	SNP	C	TCGA-QH-A6CY-01A-11D-A32B-08	24970331	73725516	7469694	27	32952											
DSG4	147409	broad.mit.edu	37	18	28992950	28992950	+	Missense_Mutation	SNP	A	A	G			TCGA-QH-A6CY-01A-11D-A32B-08	TCGA-QH-A6CY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e810c032-3bcd-4baf-9e72-58ef00fb0ac7	27e7dbae-bfb7-4634-98cd-9f4211d864d6	g.chr18:28992950A>G	ENST00000359747.4	+	15	2601	c.2572A>G	c.(2572-2574)Aaa>Gaa	p.K858E	RP11-534N16.1_ENST00000581856.1_RNA|DSG4_ENST00000308128.4_Missense_Mutation_p.K839E|RP11-534N16.1_ENST00000578477.1_RNA	NM_001134453.1	NP_001127925.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	839					homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			TTTAGATCCAAAATTTAGGAC	0.448													8	206					0	0	1	0	0	G	28992950	A	G	28992950	3	3	386	1	0	0	0	0	1	0	0	0	4805	15	1	3	2698	3	DSG4	18	28992950	Missense_Mutation	SNP	A	TCGA-QH-A6CY-01A-11D-A32B-08		28992950	49084298	28	32953											
CIC	23152	broad.mit.edu	37	19	42799050	42799050	+	Missense_Mutation	SNP	C	C	A			TCGA-QH-A6CY-01A-11D-A32B-08	TCGA-QH-A6CY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e810c032-3bcd-4baf-9e72-58ef00fb0ac7	27e7dbae-bfb7-4634-98cd-9f4211d864d6	g.chr19:42799050C>A	ENST00000572681.2	+	21	7320	c.7252C>A	c.(7252-7254)Cgt>Agt	p.R2418S	CIC_ENST00000160740.3_Missense_Mutation_p.R1510S|CIC_ENST00000575354.2_Missense_Mutation_p.R1512S			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	1512					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				GTTGAAGATCCGTGAGGTGCG	0.632			"Mis, F, S"		oligodendroglioma								32	42					2.75727e-19	3.06364e-19	1	1	0	A	42799050	C	A	42799050	3	1	386	1	0	0	0	0	1	0	0	0	3446	652	23	5	4612	5	CIC	19	42799050	Missense_Mutation	SNP	C	TCGA-QH-A6CY-01A-11D-A32B-08		42799050	16329933	29	32954											
PSG7	5676	broad.mit.edu	37	19	43440068	43440069	+	RNA	DEL	AC	AC	-	rs72310923		TCGA-QH-A6CY-01A-11D-A32B-08	TCGA-QH-A6CY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e810c032-3bcd-4baf-9e72-58ef00fb0ac7	27e7dbae-bfb7-4634-98cd-9f4211d864d6	g.chr19:43440068_43440069delAC	ENST00000446844.3	-	0	154				PSG7_ENST00000406070.2_RNA			Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy	extracellular region							Prostate(69;0.00682)				acacacacaaacacacacacac	0.495													7	12	---	---	---	---						-	43440069	AC	-	43440068	6	5	386	0	1	1	0	1	0	0	0	0	12709	58	2	0		0	PSG7	19	43440068	RNA	DEL	AC	TCGA-QH-A6CY-01A-11D-A32B-08	641018	43440068	15688915	30	32955											
ZFP64	55734	broad.mit.edu	37	20	50701174	50701174	+	Silent	SNP	G	G	A			TCGA-QH-A6CY-01A-11D-A32B-08	TCGA-QH-A6CY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e810c032-3bcd-4baf-9e72-58ef00fb0ac7	27e7dbae-bfb7-4634-98cd-9f4211d864d6	g.chr20:50701174G>A	ENST00000361387.2	-	9	1920	c.1860C>T	c.(1858-1860)agC>agT	p.S620S	ZFP64_ENST00000371518.2_Intron|ZFP64_ENST00000371523.4_Silent_p.S401S	NM_199427.2	NP_955459.2	Q9NPA5	ZF64A_HUMAN	ZFP64 zinc finger protein	465					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						CCGAGGCACCGCTTTCCGGTG	0.597													24	43					0	0	1	0	0	A	50701174	G	A	50701174	2	1	386	1	0	0	0	0	0	0	0	1	17710	1078	38	1		1	ZFP64	20	50701174	Silent	SNP	G	TCGA-QH-A6CY-01A-11D-A32B-08		50701174	12324346	31	32956											
HMGB3	3149	broad.mit.edu	37	X	150156360	150156360	+	Silent	SNP	G	G	A			TCGA-QH-A6CY-01A-11D-A32B-08	TCGA-QH-A6CY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e810c032-3bcd-4baf-9e72-58ef00fb0ac7	27e7dbae-bfb7-4634-98cd-9f4211d864d6	g.chrX:150156360G>A	ENST00000325307.7	+	5	672	c.576G>A	c.(574-576)gaG>gaA	p.E192E	HMGB3_ENST00000448905.2_Silent_p.E192E	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN	high mobility group box 3	192	Asp/Glu-rich (acidic).				DNA recombination|multicellular organismal development	chromosome|nucleus	DNA bending activity|double-stranded DNA binding	p.E192E(1)		endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8	Acute lymphoblastic leukemia(192;6.56e-05)					aggaagaagaggaggaggagg	0.443													4	58					0	0	1	0	0	A	150156360	G	A	150156360	2	1	386	1	0	0	0	0	0	0	0	1	7268	991	35	2		2	HMGB3	23	150156360	Silent	SNP	G	TCGA-QH-A6CY-01A-11D-A32B-08		150156360	5114200	32	32957											
CDKN2C	1031	broad.mit.edu	37	1	51436140	51436140	+	Nonsense_Mutation	SNP	C	C	T			TCGA-QH-A6CZ-01A-11D-A32B-08	TCGA-QH-A6CZ-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64ccbb42-ab3e-4c72-81bf-a73da84d234f	ce3b3c31-5843-453e-8226-a166a9cef382	g.chr1:51436140C>T	ENST00000262662.1	+	3	2134	c.100C>T	c.(100-102)Caa>Taa	p.Q34*	CDKN2C_ENST00000396148.1_Nonsense_Mutation_p.Q34*|CDKN2C_ENST00000371761.3_Nonsense_Mutation_p.Q34*			P42773	CDN2C_HUMAN	cyclin-dependent kinase inhibitor 2C (p18, inhibits CDK4)	34					cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|regulation of cyclin-dependent protein kinase activity	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|protein kinase binding	p.0?(11)		central_nervous_system(8)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|thyroid(1)	23				GBM - Glioblastoma multiforme(3;3.61e-13)|all cancers(3;0.00151)		CGTCAATGCACAAAATGGATT	0.483			D		"glioma, MM"								6	54					0	0	1	0	0	T	51436140	C	T	51436140	4	4	387	1	0	0	0	0	0	1	0	0	3187	479	17	2	102	2	CDKN2C	1	51436140	Nonsense_Mutation	SNP	C	TCGA-QH-A6CZ-01A-11D-A32B-08		51436140	197814481	1	32958											
FUBP1	8880	broad.mit.edu	37	1	78428499	78428499	+	Nonsense_Mutation	SNP	G	G	A			TCGA-QH-A6CZ-01A-11D-A32B-08	TCGA-QH-A6CZ-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64ccbb42-ab3e-4c72-81bf-a73da84d234f	ce3b3c31-5843-453e-8226-a166a9cef382	g.chr1:78428499G>A	ENST00000370767.1	-	14	1387	c.1300C>T	c.(1300-1302)Caa>Taa	p.Q434*	FUBP1_ENST00000436586.2_Nonsense_Mutation_p.Q455*|FUBP1_ENST00000370768.2_Nonsense_Mutation_p.Q434*			Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1	434	KH 4.				transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						TCTATCTGTTGTGGAGTGCCA	0.368			"F, N"		oligodendroglioma								5	38					0	0	1	0	0	A	78428499	G	A	78428499	4	1	387	1	0	0	0	0	0	1	0	0	6127	1386	48	2	662	2	FUBP1	1	78428499	Nonsense_Mutation	SNP	G	TCGA-QH-A6CZ-01A-11D-A32B-08	26992359	78428499	170822122	2	32959											
LAMC2	3918	broad.mit.edu	37	1	183201823	183201823	+	Missense_Mutation	SNP	T	T	C			TCGA-QH-A6CZ-01A-11D-A32B-08	TCGA-QH-A6CZ-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64ccbb42-ab3e-4c72-81bf-a73da84d234f	ce3b3c31-5843-453e-8226-a166a9cef382	g.chr1:183201823T>C	ENST00000264144.4	+	14	2116	c.2051T>C	c.(2050-2052)gTg>gCg	p.V684A	LAMC2_ENST00000493293.1_Missense_Mutation_p.V684A	NM_005562.2	NP_005553.2	Q13753	LAMC2_HUMAN	laminin, gamma 2	684	Domain II and I.				cell adhesion|epidermis development|hemidesmosome assembly		heparin binding			breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						TTGGCCAAGGTGAGGAGCCAA	0.527													6	67					0	0	1	0	0	C	183201823	T	C	183201823	3	2	387	1	0	0	0	0	1	0	0	0	8654	1696	59	3	2105	3	LAMC2	1	183201823	Missense_Mutation	SNP	T	TCGA-QH-A6CZ-01A-11D-A32B-08	104773324	183201823	66048798	3	32960											
ZNF638	27332	broad.mit.edu	37	2	71655742	71655742	+	Missense_Mutation	SNP	G	G	C			TCGA-QH-A6CZ-01A-11D-A32B-08	TCGA-QH-A6CZ-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64ccbb42-ab3e-4c72-81bf-a73da84d234f	ce3b3c31-5843-453e-8226-a166a9cef382	g.chr2:71655742G>C	ENST00000409544.1	+	25	6241	c.5611G>C	c.(5611-5613)Gaa>Caa	p.E1871Q	ZNF638_ENST00000264447.4_Missense_Mutation_p.E1871Q|ZNF638_ENST00000355812.3_3'UTR|ZNF638_ENST00000409407.1_Missense_Mutation_p.E811Q	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638	1871					RNA splicing	cytoplasm|nuclear speck	double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						TGTTGTGACAGAACCAGCAAA	0.398													58	83					0	0	1	0	0	C	71655742	G	C	71655742	3	2	387	1	0	0	0	0	1	0	0	0	18112	943	33	4	5705	4	ZNF638	2	71655742	Missense_Mutation	SNP	G	TCGA-QH-A6CZ-01A-11D-A32B-08		71655742	171543631	4	32961			1	40		2	2	38	N	G_A	5.856387e-05
ZNF638	27332	broad.mit.edu	37	2	71655779	71655779	+	Missense_Mutation	SNP	A	A	C			TCGA-QH-A6CZ-01A-11D-A32B-08	TCGA-QH-A6CZ-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64ccbb42-ab3e-4c72-81bf-a73da84d234f	ce3b3c31-5843-453e-8226-a166a9cef382	g.chr2:71655779A>C	ENST00000409544.1	+	25	6278	c.5648A>C	c.(5647-5649)gAa>gCa	p.E1883A	ZNF638_ENST00000264447.4_Missense_Mutation_p.E1883A|ZNF638_ENST00000355812.3_3'UTR|ZNF638_ENST00000409407.1_Missense_Mutation_p.E823A	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638	1883					RNA splicing	cytoplasm|nuclear speck	double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						CAGATGAGTGAAGGTAAAGCA	0.398													40	52					0	0	1	0	0	C	71655779	A	C	71655779	3	2	387	1	0	0	0	0	1	0	0	0	18112	246	9	5	5742	5	ZNF638	2	71655779	Missense_Mutation	SNP	A	TCGA-QH-A6CZ-01A-11D-A32B-08	37	71655779	171543594	5	32962			1	40		2	2	38	N	G_A	5.856387e-05
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-QH-A6CZ-01A-11D-A32B-08	TCGA-QH-A6CZ-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64ccbb42-ab3e-4c72-81bf-a73da84d234f	ce3b3c31-5843-453e-8226-a166a9cef382	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	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								24	26					0	0	1	0	0	T	209113112	C	T	209113112	3	4	387	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-QH-A6CZ-01A-11D-A32B-08	137457333	209113112	34086261	6	32963											
NEK10	152110	broad.mit.edu	37	3	27244027	27244027	+	Silent	SNP	C	C	T			TCGA-QH-A6CZ-01A-11D-A32B-08	TCGA-QH-A6CZ-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64ccbb42-ab3e-4c72-81bf-a73da84d234f	ce3b3c31-5843-453e-8226-a166a9cef382	g.chr3:27244027C>T	ENST00000429845.2	-	25	2474	c.2112G>A	c.(2110-2112)gaG>gaA	p.E704E	NEK10_ENST00000383771.4_Silent_p.E16E|NEK10_ENST00000383770.3_Silent_p.E16E|NEK10_ENST00000357467.2_Silent_p.E101E|NEK10_ENST00000295720.6_Silent_p.E16E			Q6ZWH5	NEK10_HUMAN	NIMA-related kinase 10	704	Protein kinase.						ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						CCCCATACGGCTCACTCTTCA	0.473													11	23					0	0	1	0	0	T	27244027	C	T	27244027	2	4	387	1	0	0	0	0	0	0	0	1	10369	812	28	2		2	NEK10	3	27244027	Silent	SNP	C	TCGA-QH-A6CZ-01A-11D-A32B-08		27244027	170778403	7	32964											
DNAH1	25981	broad.mit.edu	37	3	52397073	52397073	+	Silent	SNP	C	C	G			TCGA-QH-A6CZ-01A-11D-A32B-08	TCGA-QH-A6CZ-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64ccbb42-ab3e-4c72-81bf-a73da84d234f	ce3b3c31-5843-453e-8226-a166a9cef382	g.chr3:52397073C>G	ENST00000420323.2	+	32	5418	c.5157C>G	c.(5155-5157)ctC>ctG	p.L1719L		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	1719	AAA 1 (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		AGATCTCCCTCTATTCCTTTG	0.537													57	97					0	0	1	0	0	G	52397073	C	G	52397073	2	3	387	1	0	0	0	0	0	0	0	1	4625	900	32	4		4	DNAH1	3	52397073	Silent	SNP	C	TCGA-QH-A6CZ-01A-11D-A32B-08	25153046	52397073	145625357	8	32965											
PLA1A	51365	broad.mit.edu	37	3	119336993	119336993	+	Silent	SNP	G	G	A			TCGA-QH-A6CZ-01A-11D-A32B-08	TCGA-QH-A6CZ-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64ccbb42-ab3e-4c72-81bf-a73da84d234f	ce3b3c31-5843-453e-8226-a166a9cef382	g.chr3:119336993G>A	ENST00000273371.4	+	7	954	c.882G>A	c.(880-882)ctG>ctA	p.L294L	PLA1A_ENST00000488919.1_Silent_p.L121L|PLA1A_ENST00000494440.1_Silent_p.L278L|PLA1A_ENST00000495992.1_Silent_p.L278L	NM_015900.3	NP_056984.1	Q53H76	PLA1A_HUMAN	phospholipase A1 member A	294					lipid catabolic process|phosphatidylserine metabolic process	extracellular region	phospholipase A1 activity			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						GACGCTGTCTGGATTGCTTTA	0.522													5	361					0	0	1	0	0	A	119336993	G	A	119336993	2	1	387	1	0	0	0	0	0	0	0	1	12036	1335	47	2		2	PLA1A	3	119336993	Silent	SNP	G	TCGA-QH-A6CZ-01A-11D-A32B-08	66939920	119336993	78685437	9	32966											
CLRN2	645104	broad.mit.edu	37	4	17528505	17528505	+	Nonsense_Mutation	SNP	C	C	T			TCGA-QH-A6CZ-01A-11D-A32B-08	TCGA-QH-A6CZ-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64ccbb42-ab3e-4c72-81bf-a73da84d234f	ce3b3c31-5843-453e-8226-a166a9cef382	g.chr4:17528505C>T	ENST00000511148.2	+	3	601	c.499C>T	c.(499-501)Cga>Tga	p.R167*		NM_001079827.2	NP_001073296.1	A0PK11	CLRN2_HUMAN	clarin 2	167						integral to membrane				breast(1)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|upper_aerodigestive_tract(1)	15						CCTGACGGAACGAATCGCCAA	0.552													4	39					0	0	1	0	0	T	17528505	C	T	17528505	4	4	387	1	0	0	0	0	0	1	0	0	3581	528	19	1	509	1	CLRN2	4	17528505	Nonsense_Mutation	SNP	C	TCGA-QH-A6CZ-01A-11D-A32B-08		17528505	173625771	10	32967											
PDS5A	23244	broad.mit.edu	37	4	39922020	39922020	+	Splice_Site	SNP	C	C	G			TCGA-QH-A6CZ-01A-11D-A32B-08	TCGA-QH-A6CZ-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64ccbb42-ab3e-4c72-81bf-a73da84d234f	ce3b3c31-5843-453e-8226-a166a9cef382	g.chr4:39922020C>G	ENST00000303538.8	-	7	1194		c.e7-1		PDS5A_ENST00000503396.1_Splice_Site	NM_001100399.1	NP_001093869.1	Q29RF7	PDS5A_HUMAN	PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae)						cell division|mitosis|negative regulation of DNA replication	chromatin|nucleus	identical protein binding			breast(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(14)|prostate(3)|skin(1)|urinary_tract(1)	39						TATTTAAGTTCTGAAAAATAA	0.274													11	20					0	0	1	0	0	G	39922020	C	G	39922020	5	3	387	1	0	0	0	0	0	0	1	0	11738	927	32	4	3500	4	PDS5A	4	39922020	Splice_Site	SNP	C	TCGA-QH-A6CZ-01A-11D-A32B-08	22393515	39922020	151232256	11	32968											
SLC25A46	91137	broad.mit.edu	37	5	110074990	110074990	+	Frame_Shift_Del	DEL	G	G	-			TCGA-QH-A6CZ-01A-11D-A32B-08	TCGA-QH-A6CZ-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64ccbb42-ab3e-4c72-81bf-a73da84d234f	ce3b3c31-5843-453e-8226-a166a9cef382	g.chr5:110074990delG	ENST00000355943.3	+	1	296	c.170delG	c.(169-171)tggfs	p.W57fs	SLC25A46_ENST00000509442.2_Intron|SLC25A46_ENST00000513807.1_Intron|SLC25A46_ENST00000447245.2_Frame_Shift_Del_p.W57fs	NM_138773.1	NP_620128.1	Q96AG3	S2546_HUMAN	solute carrier family 25, member 46	57					transport	integral to membrane|mitochondrial inner membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	10		all_cancers(142;0.00203)|all_epithelial(76;4.52e-05)|Prostate(80;0.0115)|Colorectal(57;0.0676)|Ovarian(225;0.156)		OV - Ovarian serous cystadenocarcinoma(64;2.58e-09)|Epithelial(69;7.29e-08)|all cancers(49;9.35e-06)|COAD - Colon adenocarcinoma(37;0.211)		AACCTGCACTGGGGCGAGAAG	0.692													2	4	---	---	---	---						-	110074990	G	-	110074990	7	5	387	1	0	1	0	1	0	0	0	0	14566	1357	47	0	172	0	SLC25A46	5	110074990	Frame_Shift_Del	DEL	G	TCGA-QH-A6CZ-01A-11D-A32B-08		110074990	70840270	12	32969											
PRR16	51334	broad.mit.edu	37	5	120022396	120022396	+	Missense_Mutation	SNP	A	A	T			TCGA-QH-A6CZ-01A-11D-A32B-08	TCGA-QH-A6CZ-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64ccbb42-ab3e-4c72-81bf-a73da84d234f	ce3b3c31-5843-453e-8226-a166a9cef382	g.chr5:120022396A>T	ENST00000379551.2	+	3	1195	c.838A>T	c.(838-840)Acc>Tcc	p.T280S	PRR16_ENST00000505123.1_Missense_Mutation_p.T233S|PRR16_ENST00000446965.1_Missense_Mutation_p.T233S|PRR16_ENST00000407149.2_Missense_Mutation_p.T303S	NM_016644.1	NP_057728.1	Q569H4	PRR16_HUMAN	proline rich 16	303	Pro-rich.									endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0464)|Prostate(80;0.00446)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.000126)|Epithelial(69;0.000331)|all cancers(49;0.00169)		AACCACTACAACCGTGTGATG	0.388													4	36					0	0	1	0	0	T	120022396	A	T	120022396	3	4	387	1	0	0	0	0	1	0	0	0	12641	43	2	5	844	5	PRR16	5	120022396	Missense_Mutation	SNP	A	TCGA-QH-A6CZ-01A-11D-A32B-08	9947406	120022396	60892864	13	32970											
CATSPER3	347732	broad.mit.edu	37	5	134345082	134345082	+	Nonsense_Mutation	SNP	C	C	T			TCGA-QH-A6CZ-01A-11D-A32B-08	TCGA-QH-A6CZ-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64ccbb42-ab3e-4c72-81bf-a73da84d234f	ce3b3c31-5843-453e-8226-a166a9cef382	g.chr5:134345082C>T	ENST00000282611.6	+	6	924	c.838C>T	c.(838-840)Cga>Tga	p.R280*		NM_178019.2	NP_821138.1	Q86XQ3	CTSR3_HUMAN	cation channel, sperm associated 3	280					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|voltage-gated ion channel activity			NS(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|stomach(1)|urinary_tract(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			AAAGTTTGAGCGAGAGCTGAT	0.542													5	93					0	0	1	0	0	T	134345082	C	T	134345082	4	4	387	1	0	0	0	0	0	1	0	0	2707	760	27	1	860	1	CATSPER3	5	134345082	Nonsense_Mutation	SNP	C	TCGA-QH-A6CZ-01A-11D-A32B-08	14322686	134345082	46570178	14	32971											
PCDHA2	56146	broad.mit.edu	37	5	140176747	140176747	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A6CZ-01A-11D-A32B-08	TCGA-QH-A6CZ-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64ccbb42-ab3e-4c72-81bf-a73da84d234f	ce3b3c31-5843-453e-8226-a166a9cef382	g.chr5:140176747C>T	ENST00000526136.1	+	1	2198	c.2198C>T	c.(2197-2199)gCg>gTg	p.A733V	PCDHA2_ENST00000520672.2_Missense_Mutation_p.A733V|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000378132.1_Missense_Mutation_p.A733V|PCDHA1_ENST00000394633.3_Intron	NM_018905.2	NP_061728.1														NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTGCGCGCGCGCCAGGAAAG	0.682													5	84					0	0	1	0	0	T	140176747	C	T	140176747	3	4	387	1	0	0	0	0	1	0	0	0	11571	768	27	1	2200	1	PCDHA2	5	140176747	Missense_Mutation	SNP	C	TCGA-QH-A6CZ-01A-11D-A32B-08	5831665	140176747	40738513	15	32972											
PCDHGC5	56097	broad.mit.edu	37	5	140869683	140869683	+	Silent	SNP	C	C	T			TCGA-QH-A6CZ-01A-11D-A32B-08	TCGA-QH-A6CZ-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64ccbb42-ab3e-4c72-81bf-a73da84d234f	ce3b3c31-5843-453e-8226-a166a9cef382	g.chr5:140869683C>T	ENST00000252087.1	+	1	876	c.876C>T	c.(874-876)ctC>ctT	p.L292L	PCDHGA12_ENST00000252085.3_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGC4_ENST00000306593.1_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018929.2|NM_032403.2|NM_032407.1	NP_061752.1|NP_115779.1|NP_115783.1	Q9Y5F6	PCDGM_HUMAN		292	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)			TGCGGAACCTCTTTGGCCTAG	0.537													53	101					0	0	1	0	0	T	140869683	C	T	140869683	2	4	387	1	0	0	0	0	0	0	0	1	11618	900	32	2		2	PCDHGC5	5	140869683	Silent	SNP	C	TCGA-QH-A6CZ-01A-11D-A32B-08	692936	140869683	40045577	16	32973											
DSP	1832	broad.mit.edu	37	6	7572217	7572217	+	Silent	SNP	C	C	T			TCGA-QH-A6CZ-01A-11D-A32B-08	TCGA-QH-A6CZ-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64ccbb42-ab3e-4c72-81bf-a73da84d234f	ce3b3c31-5843-453e-8226-a166a9cef382	g.chr6:7572217C>T	ENST00000379802.3	+	15	2387	c.2046C>T	c.(2044-2046)tgC>tgT	p.C682C	DSP_ENST00000418664.2_Silent_p.C682C	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	682	Globular 1.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		TAGAGCACTGCGAGGGCAGGA	0.443													15	23					0	0	1	0	0	T	7572217	C	T	7572217	2	4	387	1	0	0	0	0	0	0	0	1	4807	776	27	1		1	DSP	6	7572217	Silent	SNP	C	TCGA-QH-A6CZ-01A-11D-A32B-08		7572217	163542850	17	32974											
TMEM217	221468	broad.mit.edu	37	6	37186212	37186212	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A6CZ-01A-11D-A32B-08	TCGA-QH-A6CZ-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64ccbb42-ab3e-4c72-81bf-a73da84d234f	ce3b3c31-5843-453e-8226-a166a9cef382	g.chr6:37186212C>T	ENST00000336655.2	-	2	634	c.595G>A	c.(595-597)Gag>Aag	p.E199K	TMEM217_ENST00000497775.1_Intron|TMEM217_ENST00000356757.2_Missense_Mutation_p.E199K	NM_145316.3	NP_660359.2	Q8N7C4	TM217_HUMAN	transmembrane protein 217	199						integral to membrane				endometrium(2)|kidney(1)|large_intestine(5)|lung(1)	9						ctctgcctctcaaagtactgg	0.473													5	52					0	0	1	0	0	T	37186212	C	T	37186212	3	4	387	1	0	0	0	0	1	0	0	0	16200	835	29	2	106	2	TMEM217	6	37186212	Missense_Mutation	SNP	C	TCGA-QH-A6CZ-01A-11D-A32B-08	29613995	37186212	133928855	18	32975											
OOEP	441161	broad.mit.edu	37	6	74104567	74104567	+	Translation_Start_Site	SNP	G	G	A			TCGA-QH-A6CZ-01A-11D-A32B-08	TCGA-QH-A6CZ-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64ccbb42-ab3e-4c72-81bf-a73da84d234f	ce3b3c31-5843-453e-8226-a166a9cef382	g.chr6:74104567G>A	ENST00000370363.1	-	0	249				DDX43_ENST00000370336.4_5'UTR			A6NGQ2	OOEP_HUMAN	oocyte expressed protein							cytoplasm				large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	8						CTCTTACGACGTCACGGTCAG	0.657													3	38					0	0	1	0	0	A	74104567	G	A	74104567	1	1	387	1	0	0	0	0	0	0	0	0	10918	1160	40	1		1	OOEP	6	74104567	Translation_Start_Site	SNP	G	TCGA-QH-A6CZ-01A-11D-A32B-08	36918355	74104567	97010500	19	32976											
THBS2	7058	broad.mit.edu	37	6	169634881	169634881	+	Silent	SNP	G	G	A	rs139787473		TCGA-QH-A6CZ-01A-11D-A32B-08	TCGA-QH-A6CZ-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64ccbb42-ab3e-4c72-81bf-a73da84d234f	ce3b3c31-5843-453e-8226-a166a9cef382	g.chr6:169634881G>A	ENST00000366787.3	-	11	1848	c.1599C>T	c.(1597-1599)tgC>tgT	p.C533C	XXyac-YX65C7_A.2_ENST00000444188.1_RNA	NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	533	TSP type-1 3.				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity	p.C533*(1)		NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		CATCCCCCACGCAGGCCTTCC	0.662													6	66					0	0	1	0	0	A	169634881	G	A	169634881	2	1	387	1	0	0	0	0	0	0	0	1	15914	1079	38	1		1	THBS2	6	169634881	Silent	SNP	G	TCGA-QH-A6CZ-01A-11D-A32B-08	95530314	169634881	1480186	20	32977											
TMEM184A	202915	broad.mit.edu	37	7	1586662	1586663	+	In_Frame_Ins	INS	-	-	GCC	rs3837151	by1000genomes	TCGA-QH-A6CZ-01A-11D-A32B-08	TCGA-QH-A6CZ-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64ccbb42-ab3e-4c72-81bf-a73da84d234f	ce3b3c31-5843-453e-8226-a166a9cef382	g.chr7:1586662_1586663insGCC	ENST00000297477.5	-	9	1483_1484	c.1167_1168insGGC	c.(1165-1170)cccagc>cccGGCagc	p.389_390PS>PGS		NM_001097620.1	NP_001091089.1	Q6ZMB5	T184A_HUMAN	transmembrane protein 184A	389						integral to membrane				endometrium(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	12		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.88e-15)		GAGCCGCCGCTGGGGTGGGTGC	0.703													7	38	---	---	---	---						GCC	1586663	-	GCC	1586662	7	5	387	1	0	1	1	0	0	0	0	0	16164	1580	55	0	77	0	TMEM184A	7	1586662	In_Frame_Ins	INS	-	TCGA-QH-A6CZ-01A-11D-A32B-08		1586662	157552001	21	32978											
ABCA13	154664	broad.mit.edu	37	7	48682920	48682920	+	Silent	SNP	T	T	C			TCGA-QH-A6CZ-01A-11D-A32B-08	TCGA-QH-A6CZ-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64ccbb42-ab3e-4c72-81bf-a73da84d234f	ce3b3c31-5843-453e-8226-a166a9cef382	g.chr7:48682920T>C	ENST00000435803.1	+	60	14898	c.14874T>C	c.(14872-14874)tgT>tgC	p.C4958C	ABCA13_ENST00000544596.1_Silent_p.C688C	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	4958					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TTTGGCTCTGTAAGGAAGCAA	0.318													20	162					0	0	1	0	0	C	48682920	T	C	48682920	2	2	387	1	0	0	0	0	0	0	0	1	31	1644	57	3		3	ABCA13	7	48682920	Silent	SNP	T	TCGA-QH-A6CZ-01A-11D-A32B-08	47096258	48682920	110455743	22	32979											
SRRT	51593	broad.mit.edu	37	7	100484956	100484956	+	Missense_Mutation	SNP	A	A	C			TCGA-QH-A6CZ-01A-11D-A32B-08	TCGA-QH-A6CZ-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64ccbb42-ab3e-4c72-81bf-a73da84d234f	ce3b3c31-5843-453e-8226-a166a9cef382	g.chr7:100484956A>C	ENST00000388793.4	+	16	2208	c.1988A>C	c.(1987-1989)aAg>aCg	p.K663T	SRRT_ENST00000432932.1_Missense_Mutation_p.K663T|SRRT_ENST00000457580.2_Missense_Mutation_p.K664T|SRRT_ENST00000347433.4_Missense_Mutation_p.K664T	NM_001128852.1|NM_015908.5	NP_001122324.1|NP_056992.4	Q9BXP5	SRRT_HUMAN	serrate RNA effector molecule homolog (Arabidopsis)	664					cell proliferation|primary miRNA processing|response to arsenic-containing substance	cytoplasm|nucleoplasm	protein binding			breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						GAGTGGCAGAAGACTTTTGAG	0.587													48	82					0	0	1	0	0	C	100484956	A	C	100484956	3	2	387	1	0	0	0	0	1	0	0	0	15228	72	3	5	2049	5	SRRT	7	100484956	Missense_Mutation	SNP	A	TCGA-QH-A6CZ-01A-11D-A32B-08	51802036	100484956	58653707	23	32980											
TRPV6	55503	broad.mit.edu	37	7	142573252	142573252	+	Missense_Mutation	SNP	T	T	C			TCGA-QH-A6CZ-01A-11D-A32B-08	TCGA-QH-A6CZ-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64ccbb42-ab3e-4c72-81bf-a73da84d234f	ce3b3c31-5843-453e-8226-a166a9cef382	g.chr7:142573252T>C	ENST00000359396.3	-	8	1336	c.1091A>G	c.(1090-1092)gAc>gGc	p.D364G		NM_018646.3	NP_061116	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel, subfamily V, member 6	364					regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					GAGGGTGTTGTCCCGGGGGCT	0.562													43	44					0	0	1	0	0	C	142573252	T	C	142573252	3	2	387	1	0	0	0	0	1	0	0	0	16661	1667	58	3	1118	3	TRPV6	7	142573252	Missense_Mutation	SNP	T	TCGA-QH-A6CZ-01A-11D-A32B-08	42088296	142573252	16565411	24	32981											
RP1L1	94137	broad.mit.edu	37	8	10464926	10464926	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A6CZ-01A-11D-A32B-08	TCGA-QH-A6CZ-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64ccbb42-ab3e-4c72-81bf-a73da84d234f	ce3b3c31-5843-453e-8226-a166a9cef382	g.chr8:10464926C>T	ENST00000382483.3	-	4	6905	c.6682G>A	c.(6682-6684)Gta>Ata	p.V2228I		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	2228					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		GGGGTCTCTACGCCTTCTGGC	0.607													8	244					0	0	1	0	0	T	10464926	C	T	10464926	3	4	387	1	0	0	0	0	1	0	0	0	13585	536	19	1	524	1	RP1L1	8	10464926	Missense_Mutation	SNP	C	TCGA-QH-A6CZ-01A-11D-A32B-08		10464926	135899096	25	32982											
PRKACG	5568	broad.mit.edu	37	9	71628437	71628437	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A6CZ-01A-11D-A32B-08	TCGA-QH-A6CZ-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64ccbb42-ab3e-4c72-81bf-a73da84d234f	ce3b3c31-5843-453e-8226-a166a9cef382	g.chr9:71628437C>T	ENST00000377276.2	-	1	602	c.572G>A	c.(571-573)cGc>cAc	p.R191H		NM_002732.3	NP_002723.2	P22612	KAPCG_HUMAN	protein kinase, cAMP-dependent, catalytic, gamma	191	Protein kinase.				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|gluconeogenesis|intracellular protein kinase cascade|male gonad development|nerve growth factor receptor signaling pathway|regulation of insulin secretion|spermatogenesis|transmembrane transport|triglyceride catabolic process|water transport	cytosol|nucleoplasm	ATP binding|cAMP-dependent protein kinase activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						GCCCTTCACGCGCTTGGCGAA	0.627													11	16					0	0	1	0	0	T	71628437	C	T	71628437	3	4	387	1	0	0	0	0	1	0	0	0	12551	768	27	1	487	1	PRKACG	9	71628437	Missense_Mutation	SNP	C	TCGA-QH-A6CZ-01A-11D-A32B-08		71628437	69584994	26	32983											
OR4C16	219428	broad.mit.edu	37	11	55339921	55339921	+	Silent	SNP	C	C	A			TCGA-QH-A6CZ-01A-11D-A32B-08	TCGA-QH-A6CZ-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64ccbb42-ab3e-4c72-81bf-a73da84d234f	ce3b3c31-5843-453e-8226-a166a9cef382	g.chr11:55339921C>A	ENST00000314634.3	+	1	318	c.318C>A	c.(316-318)ggC>ggA	p.G106G		NM_001004701.2	NP_001004701.2	Q8NGL9	OR4CG_HUMAN	olfactory receptor, family 4, subfamily C, member 16 (gene/pseudogene)	106					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41		all_epithelial(135;0.0748)				ATGTCTTTGGCTGCCTGGAGA	0.488													8	238					1.33987e-11	1.41295e-11	1	1	0	A	55339921	C	A	55339921	2	1	387	1	0	0	0	0	0	0	0	1	11097	784	28	4		4	OR4C16	11	55339921	Silent	SNP	C	TCGA-QH-A6CZ-01A-11D-A32B-08		55339921	79666595	27	32984											
ACVR1B	91	broad.mit.edu	37	12	52380606	52380606	+	Missense_Mutation	SNP	A	A	G			TCGA-QH-A6CZ-01A-11D-A32B-08	TCGA-QH-A6CZ-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64ccbb42-ab3e-4c72-81bf-a73da84d234f	ce3b3c31-5843-453e-8226-a166a9cef382	g.chr12:52380606A>G	ENST00000257963.4	+	7	1218	c.1141A>G	c.(1141-1143)Atg>Gtg	p.M381V	ACVR1B_ENST00000415850.2_Missense_Mutation_p.M381V|ACVR1B_ENST00000541224.1_Missense_Mutation_p.M422V|ACVR1B_ENST00000426655.2_Missense_Mutation_p.M381V|ACVR1B_ENST00000563121.1_Intron|ACVR1B_ENST00000542485.1_Missense_Mutation_p.M329V	NM_004302.4|NM_020328.3	NP_004293.1|NP_064733.3	P36896	ACV1B_HUMAN	activin A receptor, type IB	381	Protein kinase.				G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|peptidyl-threonine phosphorylation|positive regulation of activin receptor signaling pathway|positive regulation of erythrocyte differentiation|protein autophosphorylation|transmembrane receptor protein serine/threonine kinase signaling pathway	cell surface	activin receptor activity, type I|ATP binding|metal ion binding|SMAD binding|transforming growth factor beta receptor activity|ubiquitin protein ligase binding			breast(5)|endometrium(4)|kidney(5)|large_intestine(12)|lung(10)|ovary(1)|pancreas(6)|prostate(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.104)	Adenosine triphosphate(DB00171)	TTGCAGATACATGGCCCCTGA	0.398													23	74					0	0	1	0	0	G	52380606	A	G	52380606	3	3	387	1	0	0	0	0	1	0	0	0	220	217	8	3	1294	3	ACVR1B	12	52380606	Missense_Mutation	SNP	A	TCGA-QH-A6CZ-01A-11D-A32B-08		52380606	81471289	28	32985											
STAB2	55576	broad.mit.edu	37	12	104140466	104140466	+	Silent	SNP	C	C	T			TCGA-QH-A6CZ-01A-11D-A32B-08	TCGA-QH-A6CZ-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64ccbb42-ab3e-4c72-81bf-a73da84d234f	ce3b3c31-5843-453e-8226-a166a9cef382	g.chr12:104140466C>T	ENST00000388887.2	+	58	6432	c.6228C>T	c.(6226-6228)gaC>gaT	p.D2076D	RP11-341G23.4_ENST00000551299.1_RNA	NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	2076	EGF-like 15.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						ATGAAGGTGACGGAATCACAT	0.512													16	191					0	0	1	0	0	T	104140466	C	T	104140466	2	4	387	1	0	0	0	0	0	0	0	1	15294	535	19	1		1	STAB2	12	104140466	Silent	SNP	C	TCGA-QH-A6CZ-01A-11D-A32B-08	51759860	104140466	29711429	29	32986											
SLC28A1	9154	broad.mit.edu	37	15	85461769	85461769	+	Missense_Mutation	SNP	T	T	G			TCGA-QH-A6CZ-01A-11D-A32B-08	TCGA-QH-A6CZ-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64ccbb42-ab3e-4c72-81bf-a73da84d234f	ce3b3c31-5843-453e-8226-a166a9cef382	g.chr15:85461769T>G	ENST00000394573.1	+	10	1012	c.810T>G	c.(808-810)atT>atG	p.I270M	SLC28A1_ENST00000537703.1_Missense_Mutation_p.I192M|SLC28A1_ENST00000538177.1_Missense_Mutation_p.I270M|SLC28A1_ENST00000286749.3_Missense_Mutation_p.I270M|SLC28A1_ENST00000537216.1_Missense_Mutation_p.I270M|SLC28A1_ENST00000537624.1_Missense_Mutation_p.I270M	NM_004213.3	NP_004204.3	O00337	S28A1_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 1	270					nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	41			BRCA - Breast invasive adenocarcinoma(143;0.0587)			TGCCCATCATTGTCTTTTTCA	0.602													68	76					0	0	1	0	0	G	85461769	T	G	85461769	3	3	387	1	0	0	0	0	1	0	0	0	14586	1800	63	5	911	5	SLC28A1	15	85461769	Missense_Mutation	SNP	T	TCGA-QH-A6CZ-01A-11D-A32B-08		85461769	17069623	30	32987											
KIAA0895L	653319	broad.mit.edu	37	16	67214474	67214474	+	Missense_Mutation	SNP	G	G	T			TCGA-QH-A6CZ-01A-11D-A32B-08	TCGA-QH-A6CZ-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64ccbb42-ab3e-4c72-81bf-a73da84d234f	ce3b3c31-5843-453e-8226-a166a9cef382	g.chr16:67214474G>T	ENST00000290881.7	-	3	966	c.40C>A	c.(40-42)Ccc>Acc	p.P14T	KIAA0895L_ENST00000563831.2_Intron|KIAA0895L_ENST00000563902.1_Missense_Mutation_p.P14T|KIAA0895L_ENST00000561621.1_Missense_Mutation_p.P14T			Q68EN5	K895L_HUMAN	KIAA0895-like	14	Pro-rich.							p.S16fs*13(1)		breast(2)|endometrium(5)|kidney(2)|large_intestine(3)|lung(2)|prostate(2)|skin(1)	17						GGGCTGGGGGGTGCCTGATCA	0.647													19	21					4.35082e-09	4.5062e-09	1	1	0	T	67214474	G	T	67214474	3	4	387	1	0	0	0	0	1	0	0	0	8240	1261	44	5	1399	5	KIAA0895L	16	67214474	Missense_Mutation	SNP	G	TCGA-QH-A6CZ-01A-11D-A32B-08		67214474	23140279	31	32988											
WDR81	124997	broad.mit.edu	37	17	1640948	1640949	+	Frame_Shift_Ins	INS	-	-	G			TCGA-QH-A6CZ-01A-11D-A32B-08	TCGA-QH-A6CZ-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64ccbb42-ab3e-4c72-81bf-a73da84d234f	ce3b3c31-5843-453e-8226-a166a9cef382	g.chr17:1640948_1640949insG	ENST00000409644.1	+	10	5795_5796	c.5795_5796insG	c.(5794-5799)tcagacfs	p.D1933fs	WDR81_ENST00000437219.2_Frame_Shift_Ins_p.D730fs|RP11-961A15.1_ENST00000576540.1_RNA|WDR81_ENST00000419248.1_Frame_Shift_Ins_p.D706fs|WDR81_ENST00000309182.5_Frame_Shift_Ins_p.D882fs|WDR81_ENST00000446363.1_Frame_Shift_Ins_p.D572fs|WDR81_ENST00000545662.1_Frame_Shift_Ins_p.D564fs	NM_001163809.1	NP_001157281.1	B3KXU1	B3KXU1_HUMAN	WD repeat domain 81	706								p.S881S(2)|p.S1932S(2)|p.S729S(2)		cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		CTGCTGGGCTCAGACAACGGGG	0.653													17	30	---	---	---	---						G	1640949	-	G	1640948	7	5	387	1	0	1	1	0	0	0	0	0	17390	838	29	0	5895	0	WDR81	17	1640948	Frame_Shift_Ins	INS	-	TCGA-QH-A6CZ-01A-11D-A32B-08		1640948	79554262	32	32989											
C17orf85	55421	broad.mit.edu	37	17	3717702	3717702	+	Missense_Mutation	SNP	T	T	C			TCGA-QH-A6CZ-01A-11D-A32B-08	TCGA-QH-A6CZ-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64ccbb42-ab3e-4c72-81bf-a73da84d234f	ce3b3c31-5843-453e-8226-a166a9cef382	g.chr17:3717702T>C	ENST00000158149.3	-	13	1596	c.701A>G	c.(700-702)gAg>gGg	p.E234G	C17orf85_ENST00000389005.4_Missense_Mutation_p.E514G			Q53F19	CQ085_HUMAN	chromosome 17 open reading frame 85	514							nucleotide binding			endometrium(2)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (3;0.0725)		AGAAGAGGGCTCTCTCCGAAC	0.473													4	98					0	0	1	0	0	C	3717702	T	C	3717702	3	2	387	1	0	0	0	0	1	0	0	0	1898	1551	54	3	329	3	C17orf85	17	3717702	Missense_Mutation	SNP	T	TCGA-QH-A6CZ-01A-11D-A32B-08	2076754	3717702	77477508	33	32990											
TP53	7157	broad.mit.edu	37	17	7578505	7578505	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A6CZ-01A-11D-A32B-08	TCGA-QH-A6CZ-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64ccbb42-ab3e-4c72-81bf-a73da84d234f	ce3b3c31-5843-453e-8226-a166a9cef382	g.chr17:7578505G>A	ENST00000420246.2	-	5	557	c.425C>T	c.(424-426)cCt>cTt	p.P142L	TP53_ENST00000359597.4_Missense_Mutation_p.P142L|TP53_ENST00000455263.2_Missense_Mutation_p.P142L|TP53_ENST00000269305.4_Missense_Mutation_p.P142L|TP53_ENST00000445888.2_Missense_Mutation_p.P142L|TP53_ENST00000413465.2_Missense_Mutation_p.P142L	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	142	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		P -> A (in sporadic cancers; somatic mutation).|P -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> H (in sporadic cancers; somatic mutation).|P -> L (in sporadic cancers; somatic mutation).|P -> R (in a sporadic cancer; somatic mutation).|P -> S (in sporadic cancers; somatic mutation).|P -> T (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.P142L(8)|p.0?(8)|p.A138_P142delAKTCP(4)|p.P142H(3)|p.P142F(2)|p.L137_W146del10(1)|p.A6_P10delAKTCP(1)|p.N131fs*27(1)|p.K139fs*4(1)|p.A45_P49delAKTCP(1)|p.T140fs*28(1)|p.A138_V143delAKTCPV(1)|p.C141fs*5(1)|p.P142del(1)|p.P142_Q144delPVQ(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)		CAGCTGCACAGGGCAGGTCTT	0.587		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)			4	51					0	0	1	0	0	A	7578505	G	A	7578505	3	1	387	1	0	0	0	0	1	0	0	0	16442	1000	35	2	873	2	TP53	17	7578505	Missense_Mutation	SNP	G	TCGA-QH-A6CZ-01A-11D-A32B-08	3860803	7578505	73616705	34	32991											
FAM83G	644815	broad.mit.edu	37	17	18874815	18874815	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A6CZ-01A-11D-A32B-08	TCGA-QH-A6CZ-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64ccbb42-ab3e-4c72-81bf-a73da84d234f	ce3b3c31-5843-453e-8226-a166a9cef382	g.chr17:18874815C>T	ENST00000388995.6	-	6	2552	c.2329G>A	c.(2329-2331)Gag>Aag	p.E777K	FAM83G_ENST00000345041.4_Missense_Mutation_p.E777K|FAM83G_ENST00000585154.2_Missense_Mutation_p.E777K|SLC5A10_ENST00000417251.2_Intron|SLC5A10_ENST00000395647.2_Intron|SLC5A10_ENST00000317977.6_Intron|SLC5A10_ENST00000395643.2_Intron|SLC5A10_ENST00000395642.1_Intron|SLC5A10_ENST00000395645.3_Intron			A6ND36	FA83G_HUMAN	family with sequence similarity 83, member G	777										central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						GGATGCTCCTCGGTGGCCCTG	0.637													9	168					0	0	1	0	0	T	18874815	C	T	18874815	3	4	387	1	0	0	0	0	1	0	0	0	5671	893	31	1	146	1	FAM83G	17	18874815	Missense_Mutation	SNP	C	TCGA-QH-A6CZ-01A-11D-A32B-08	11296310	18874815	62320395	35	32992											
EVI2B	2124	broad.mit.edu	37	17	29631826	29631826	+	Missense_Mutation	SNP	A	A	G			TCGA-QH-A6CZ-01A-11D-A32B-08	TCGA-QH-A6CZ-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64ccbb42-ab3e-4c72-81bf-a73da84d234f	ce3b3c31-5843-453e-8226-a166a9cef382	g.chr17:29631826A>G	ENST00000330927.4	-	2	956	c.802T>C	c.(802-804)Tca>Cca	p.S268P	EVI2B_ENST00000544462.1_Missense_Mutation_p.S283P|EVI2B_ENST00000577894.1_Missense_Mutation_p.S268P|NF1_ENST00000358273.4_Intron|NF1_ENST00000356175.3_Intron	NM_006495.3	NP_006486.3	P34910	EVI2B_HUMAN	ecotropic viral integration site 2B	268						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)		GAAATGATTGATGTACGTTTT	0.363													6	131					0	0	1	0	0	G	29631826	A	G	29631826	3	3	387	1	0	0	0	0	1	0	0	0	5316	333	12	3	548	3	EVI2B	17	29631826	Missense_Mutation	SNP	A	TCGA-QH-A6CZ-01A-11D-A32B-08	10757011	29631826	51563384	36	32993											
ASXL3	80816	broad.mit.edu	37	18	31324832	31324832	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A6CZ-01A-11D-A32B-08	TCGA-QH-A6CZ-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64ccbb42-ab3e-4c72-81bf-a73da84d234f	ce3b3c31-5843-453e-8226-a166a9cef382	g.chr18:31324832G>A	ENST00000269197.5	+	12	5020	c.5020G>A	c.(5020-5022)Gaa>Aaa	p.E1674K		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	1674					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						TGAACTTCACGAAGCAGACAA	0.478													50	41					0	0	1	0	0	A	31324832	G	A	31324832	3	1	387	1	0	0	0	0	1	0	0	0	1067	1059	37	1	5066	1	ASXL3	18	31324832	Missense_Mutation	SNP	G	TCGA-QH-A6CZ-01A-11D-A32B-08		31324832	46752416	37	32994											
MYO5B	4645	broad.mit.edu	37	18	47500793	47500793	+	Missense_Mutation	SNP	C	C	A			TCGA-QH-A6CZ-01A-11D-A32B-08	TCGA-QH-A6CZ-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64ccbb42-ab3e-4c72-81bf-a73da84d234f	ce3b3c31-5843-453e-8226-a166a9cef382	g.chr18:47500793C>A	ENST00000285039.7	-	10	1548	c.1249G>T	c.(1249-1251)Gtg>Ttg	p.V417L		NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	417	Myosin head-like.				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		ATGTGCTCCACAATCCAGCCG	0.587													4	68					0.000602214	0.00061278	1	1	0	A	47500793	C	A	47500793	3	1	387	1	0	0	0	0	1	0	0	0	10127	478	17	5	4421	5	MYO5B	18	47500793	Missense_Mutation	SNP	C	TCGA-QH-A6CZ-01A-11D-A32B-08	16175961	47500793	30576455	38	32995											
ARRDC5	645432	broad.mit.edu	37	19	4891574	4891574	+	Silent	SNP	G	G	A			TCGA-QH-A6CZ-01A-11D-A32B-08	TCGA-QH-A6CZ-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64ccbb42-ab3e-4c72-81bf-a73da84d234f	ce3b3c31-5843-453e-8226-a166a9cef382	g.chr19:4891574G>A	ENST00000381781.2	-	3	512	c.513C>T	c.(511-513)ttC>ttT	p.F171F		NM_001080523.1	NP_001073992.1	A6NEK1	ARRD5_HUMAN	arrestin domain containing 5	171					signal transduction					endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0257)		CAGCCTCCACGAACAAGGGGT	0.552													13	11					0	0	1	0	0	A	4891574	G	A	4891574	2	1	387	1	0	0	0	0	0	0	0	1	985	1049	37	1		1	ARRDC5	19	4891574	Silent	SNP	G	TCGA-QH-A6CZ-01A-11D-A32B-08		4891574	54237409	39	32996											
CPAMD8	27151	broad.mit.edu	37	19	17081798	17081798	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A6CZ-01A-11D-A32B-08	TCGA-QH-A6CZ-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64ccbb42-ab3e-4c72-81bf-a73da84d234f	ce3b3c31-5843-453e-8226-a166a9cef382	g.chr19:17081798G>A	ENST00000443236.1	-	18	2288	c.2257C>T	c.(2257-2259)Cgg>Tgg	p.R753W	CPAMD8_ENST00000388925.4_Missense_Mutation_p.P495L	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	706						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						CCGTCCTGCCGGTGGTTCAGG	0.632													4	65					0	0	1	0	0	A	17081798	G	A	17081798	3	1	387	1	0	0	0	0	1	0	0	0	3818	1115	39	1	3641	1	CPAMD8	19	17081798	Missense_Mutation	SNP	G	TCGA-QH-A6CZ-01A-11D-A32B-08	12190224	17081798	42047185	40	32997											
SLC5A5	6528	broad.mit.edu	37	19	18001748	18001748	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A6CZ-01A-11D-A32B-08	TCGA-QH-A6CZ-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64ccbb42-ab3e-4c72-81bf-a73da84d234f	ce3b3c31-5843-453e-8226-a166a9cef382	g.chr19:18001748C>T	ENST00000222248.3	+	14	2052	c.1705C>T	c.(1705-1707)Cgg>Tgg	p.R569W		NM_000453.2	NP_000444.1	Q92911	SC5A5_HUMAN	solute carrier family 5 (sodium/iodide cotransporter), member 5	569					cellular nitrogen compound metabolic process|cellular response to cAMP|cellular response to gonadotropin stimulus|hormone biosynthetic process	integral to membrane|nucleus|plasma membrane	iodide transmembrane transporter activity|sodium:iodide symporter activity	p.R569W(1)		NS(2)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						GGACCTCGCACGGCAGACAGC	0.602													10	198					0	0	1	0	0	T	18001748	C	T	18001748	3	4	387	1	0	0	0	0	1	0	0	0	14723	527	19	1	1759	1	SLC5A5	19	18001748	Missense_Mutation	SNP	C	TCGA-QH-A6CZ-01A-11D-A32B-08	919950	18001748	41127235	41	32998											
GMIP	51291	broad.mit.edu	37	19	19751149	19751149	+	Missense_Mutation	SNP	T	T	G			TCGA-QH-A6CZ-01A-11D-A32B-08	TCGA-QH-A6CZ-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64ccbb42-ab3e-4c72-81bf-a73da84d234f	ce3b3c31-5843-453e-8226-a166a9cef382	g.chr19:19751149T>G	ENST00000203556.4	-	6	522	c.385A>C	c.(385-387)Acc>Ccc	p.T129P	GMIP_ENST00000587238.1_Missense_Mutation_p.T129P|GMIP_ENST00000445806.2_Missense_Mutation_p.T129P	NM_016573.2	NP_057657.2	Q9P107	GMIP_HUMAN	GEM interacting protein	129					negative regulation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	metal ion binding|protein binding|Rho GTPase activator activity			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						ATCTTCATGGTGCTCTTAGCA	0.607													4	88					0	0	1	0	0	G	19751149	T	G	19751149	3	3	387	1	0	0	0	0	1	0	0	0	6533	1696	59	5	2591	5	GMIP	19	19751149	Missense_Mutation	SNP	T	TCGA-QH-A6CZ-01A-11D-A32B-08	1749401	19751149	39377834	42	32999											
CAPN12	147968	broad.mit.edu	37	19	39224801	39224801	+	Frame_Shift_Del	DEL	C	C	-			TCGA-QH-A6CZ-01A-11D-A32B-08	TCGA-QH-A6CZ-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64ccbb42-ab3e-4c72-81bf-a73da84d234f	ce3b3c31-5843-453e-8226-a166a9cef382	g.chr19:39224801delC	ENST00000328867.4	-	17	2167	c.1859delG	c.(1858-1860)ggcfs	p.G620fs	CAPN12_ENST00000601953.1_Frame_Shift_Del_p.G471fs	NM_144691.3	NP_653292.2	Q6ZSI9	CAN12_HUMAN	calpain 12	620	Domain IV.|EF-hand.				proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(60;2.87e-05)|Ovarian(47;0.0454)		Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)			CAGGAGGTAGCCCCAGAGCTG	0.572													23	8	---	---	---	---						-	39224801	C	-	39224801	7	5	387	1	0	1	0	1	0	0	0	0	2643	739	26	0	320	0	CAPN12	19	39224801	Frame_Shift_Del	DEL	C	TCGA-QH-A6CZ-01A-11D-A32B-08	19473652	39224801	19904182	43	33000											
CIC	23152	broad.mit.edu	37	19	42791794	42791794	+	Missense_Mutation	SNP	A	A	T			TCGA-QH-A6CZ-01A-11D-A32B-08	TCGA-QH-A6CZ-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64ccbb42-ab3e-4c72-81bf-a73da84d234f	ce3b3c31-5843-453e-8226-a166a9cef382	g.chr19:42791794A>T	ENST00000572681.2	+	6	3475	c.3407A>T	c.(3406-3408)aAc>aTc	p.N1136I	CIC_ENST00000575354.2_Missense_Mutation_p.N227I|CIC_ENST00000160740.3_Missense_Mutation_p.N227I			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	227	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				AACCAGGACAACCGGACCGTC	0.622			"Mis, F, S"		oligodendroglioma								22	5					0	0	1	0	0	T	42791794	A	T	42791794	3	4	387	1	0	0	0	0	1	0	0	0	3446	43	2	5	698	5	CIC	19	42791794	Missense_Mutation	SNP	A	TCGA-QH-A6CZ-01A-11D-A32B-08	3566993	42791794	16337189	44	33001											
CIC	23152	broad.mit.edu	37	19	42795609	42795609	+	Frame_Shift_Del	DEL	C	C	-			TCGA-QH-A6CZ-01A-11D-A32B-08	TCGA-QH-A6CZ-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64ccbb42-ab3e-4c72-81bf-a73da84d234f	ce3b3c31-5843-453e-8226-a166a9cef382	g.chr19:42795609delC	ENST00000572681.2	+	11	5484	c.5416delC	c.(5416-5418)cccfs	p.P1807fs	CIC_ENST00000575354.2_Frame_Shift_Del_p.P898fs|CIC_ENST00000160740.3_Frame_Shift_Del_p.P898fs			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	898					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CTCCGCCCCACCCCCCAAAGG	0.607			"Mis, F, S"		oligodendroglioma								8	71	---	---	---	---						-	42795609	C	-	42795609	7	5	387	1	0	1	0	1	0	0	0	0	3446	507	18	0	2727	0	CIC	19	42795609	Frame_Shift_Del	DEL	C	TCGA-QH-A6CZ-01A-11D-A32B-08	3815	42795609	16333374	45	33002											
IRF3	3661	broad.mit.edu	37	19	50165556	50165556	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A6CZ-01A-11D-A32B-08	TCGA-QH-A6CZ-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64ccbb42-ab3e-4c72-81bf-a73da84d234f	ce3b3c31-5843-453e-8226-a166a9cef382	g.chr19:50165556G>A	ENST00000597198.1	-	6	1012	c.631C>T	c.(631-633)Cgg>Tgg	p.R211W	IRF3_ENST00000600911.1_Missense_Mutation_p.R211W|IRF3_ENST00000309877.7_Missense_Mutation_p.R211W|IRF3_ENST00000596765.1_Intron|IRF3_ENST00000377135.4_Intron|IRF3_ENST00000598808.1_Missense_Mutation_p.R65W|IRF3_ENST00000596822.1_Intron|IRF3_ENST00000600022.1_Intron|IRF3_ENST00000593922.1_Missense_Mutation_p.R65W|IRF3_ENST00000601291.1_Missense_Mutation_p.R211W|IRF3_ENST00000599144.1_Missense_Mutation_p.R65W|IRF3_ENST00000599223.1_Intron|IRF3_ENST00000377139.3_Missense_Mutation_p.R211W			Q14653	IRF3_HUMAN	interferon regulatory factor 3	211	Involved in HERC5 binding.				interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|response to virus|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytosol|endosome membrane|nucleoplasm|plasma membrane	DNA binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			breast(1)|large_intestine(2)|lung(4)|ovary(2)|stomach(1)	10		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.02)		TGGCGGCCCCGGTAGAAGGCT	0.667													5	50					0	0	1	0	0	A	50165556	G	A	50165556	3	1	387	1	0	0	0	0	1	0	0	0	7875	1115	39	1	664	1	IRF3	19	50165556	Missense_Mutation	SNP	G	TCGA-QH-A6CZ-01A-11D-A32B-08	7369947	50165556	8963427	46	33003											
BRWD1	54014	broad.mit.edu	37	21	40604415	40604415	+	Missense_Mutation	SNP	T	T	C			TCGA-QH-A6CZ-01A-11D-A32B-08	TCGA-QH-A6CZ-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64ccbb42-ab3e-4c72-81bf-a73da84d234f	ce3b3c31-5843-453e-8226-a166a9cef382	g.chr21:40604415T>C	ENST00000342449.3	-	24	2854	c.2776A>G	c.(2776-2778)Agg>Ggg	p.R926G	BRWD1_ENST00000333229.2_Missense_Mutation_p.R926G|BRWD1_ENST00000380800.3_Missense_Mutation_p.R926G	NM_033656.3	NP_387505.1	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	926					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				GGAGTCATCCTCCGCAAATTC	0.398													7	70					0	0	1	0	0	C	40604415	T	C	40604415	3	2	387	1	0	0	0	0	1	0	0	0	1527	1550	54	3	4501	3	BRWD1	21	40604415	Missense_Mutation	SNP	T	TCGA-QH-A6CZ-01A-11D-A32B-08		40604415	7525480	47	33004											
COL6A1	1291	broad.mit.edu	37	21	47412311	47412311	+	Splice_Site	SNP	G	G	A			TCGA-QH-A6CZ-01A-11D-A32B-08	TCGA-QH-A6CZ-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64ccbb42-ab3e-4c72-81bf-a73da84d234f	ce3b3c31-5843-453e-8226-a166a9cef382	g.chr21:47412311G>A	ENST00000361866.3	+	18	1385	c.1271G>A	c.(1270-1272)cGg>cAg	p.R424Q		NM_001848.2	NP_001839.2	P12109	CO6A1_HUMAN	collagen, type VI, alpha 1	424	Triple-helical region.				axon guidance|cell adhesion|protein heterotrimerization	collagen type VI|protein complex	platelet-derived growth factor binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	all_hematologic(128;0.24)			Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)	Palifermin(DB00039)	CCCGGGGAGCGGGTGAGTGGG	0.657													13	14					0	0	1	0	0	A	47412311	G	A	47412311	5	1	387	1	0	0	0	0	0	0	1	0	3722	1130	39	1	1341	1	COL6A1	21	47412311	Splice_Site	SNP	G	TCGA-QH-A6CZ-01A-11D-A32B-08	6807896	47412311	717584	48	33005											
CSF2RA	1438	broad.mit.edu	37	X	1413280	1413280	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A6CZ-01A-11D-A32B-08	TCGA-QH-A6CZ-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64ccbb42-ab3e-4c72-81bf-a73da84d234f	ce3b3c31-5843-453e-8226-a166a9cef382	g.chrX:1413280C>T	ENST00000381524.3	+	8	892	c.706C>T	c.(706-708)Cgg>Tgg	p.R236W	CSF2RA_ENST00000361536.3_Missense_Mutation_p.R236W|CSF2RA_ENST00000494969.2_Intron|CSF2RA_ENST00000381500.1_Missense_Mutation_p.R236W|CSF2RA_ENST00000417535.2_Missense_Mutation_p.R236W|CSF2RA_ENST00000355805.2_Intron|CSF2RA_ENST00000381529.3_Missense_Mutation_p.R236W|CSF2RA_ENST00000355432.3_Missense_Mutation_p.R236W|CSF2RA_ENST00000432318.2_Missense_Mutation_p.R236W|CSF2RA_ENST00000501036.2_Missense_Mutation_p.R103W|CSF2RA_ENST00000381509.3_Missense_Mutation_p.R236W|CSF2RA_ENST00000498153.1_3'UTR			P15509	CSF2R_HUMAN	colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)	236						extracellular region|integral to plasma membrane	cytokine receptor activity			central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	CTGCCTCGTACGGTGGAAACA	0.592													61	95					0	0	1	0	0	T	1413280	C	T	1413280	3	4	387	1	0	0	0	0	1	0	0	0	3959	527	19	1	728	1	CSF2RA	23	1413280	Missense_Mutation	SNP	C	TCGA-QH-A6CZ-01A-11D-A32B-08		1413280	153857280	49	33006											
PHGDH	26227	broad.mit.edu	37	1	120277978	120277978	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A6X3-01A-21D-A32B-08	TCGA-QH-A6X3-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec60d9fe-8eeb-4461-b98a-1a1d913e86cb	808dfeb8-ac5b-44c3-8007-fd214fda4ab2	g.chr1:120277978C>T	ENST00000369407.3	+	6	2109	c.602C>T	c.(601-603)gCc>gTc	p.A201V	PHGDH_ENST00000369409.4_Missense_Mutation_p.A235V			O43175	SERA_HUMAN	phosphoglycerate dehydrogenase	235					brain development|L-serine biosynthetic process		electron carrier activity|NAD binding|phosphoglycerate dehydrogenase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	18	all_cancers(5;1.18e-09)|all_epithelial(5;2.16e-10)|Melanoma(3;1.93e-05)|all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0347)		Lung(183;0.0111)|LUSC - Lung squamous cell carcinoma(189;0.0593)	NADH(DB00157)	GTGAACTGTGCCCGTGGAGGG	0.617													4	105					0	0	1	0	0	T	120277978	C	T	120277978	3	4	388	1	0	0	0	0	1	0	0	0	11889	739	26	2	730	2	PHGDH	1	120277978	Missense_Mutation	SNP	C	TCGA-QH-A6X3-01A-21D-A32B-08		120277978	128972643	1	33007											
HMCN1	83872	broad.mit.edu	37	1	186136027	186136027	+	Missense_Mutation	SNP	G	G	A	rs150494959	byFrequency	TCGA-QH-A6X3-01A-21D-A32B-08	TCGA-QH-A6X3-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec60d9fe-8eeb-4461-b98a-1a1d913e86cb	808dfeb8-ac5b-44c3-8007-fd214fda4ab2	g.chr1:186136027G>A	ENST00000271588.4	+	100	15756	c.15527G>A	c.(15526-15528)cGt>cAt	p.R5176H	HMCN1_ENST00000367492.2_Missense_Mutation_p.R5176H	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	5176	EGF-like 2; calcium-binding (Potential).				response to stimulus|visual perception	basement membrane	calcium ion binding	p.R5176H(1)		NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TGTGTGGTCCGTTGTGGAAGT	0.463													28	38					0	0	1	0	0	A	186136027	G	A	186136027	3	1	388	1	0	0	0	0	1	0	0	0	7261	1145	40	1	15925	1	HMCN1	1	186136027	Missense_Mutation	SNP	G	TCGA-QH-A6X3-01A-21D-A32B-08	65858049	186136027	63114594	2	33008											
MYO3B	140469	broad.mit.edu	37	2	171262117	171262117	+	Missense_Mutation	SNP	T	T	C			TCGA-QH-A6X3-01A-21D-A32B-08	TCGA-QH-A6X3-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec60d9fe-8eeb-4461-b98a-1a1d913e86cb	808dfeb8-ac5b-44c3-8007-fd214fda4ab2	g.chr2:171262117T>C	ENST00000334231.6	+	21	2521	c.2521T>C	c.(2521-2523)Ttt>Ctt	p.F841L	MYO3B_ENST00000408978.4_Missense_Mutation_p.F832L|MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000409044.3_Missense_Mutation_p.F832L			Q8WXR4	MYO3B_HUMAN	myosin IIIB	832	Myosin head-like.				response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						GGAACTGTGCTTTGGCATTCA	0.418													4	50					0	0	1	0	0	C	171262117	T	C	171262117	3	2	388	1	0	0	0	0	1	0	0	0	10125	1609	56	3	2576	3	MYO3B	2	171262117	Missense_Mutation	SNP	T	TCGA-QH-A6X3-01A-21D-A32B-08		171262117	71937256	3	33009											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-QH-A6X3-01A-21D-A32B-08	TCGA-QH-A6X3-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec60d9fe-8eeb-4461-b98a-1a1d913e86cb	808dfeb8-ac5b-44c3-8007-fd214fda4ab2	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	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								23	32					0	0	1	0	0	T	209113112	C	T	209113112	3	4	388	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-QH-A6X3-01A-21D-A32B-08	37850995	209113112	34086261	4	33010											
BTD	686	broad.mit.edu	37	3	15686469	15686469	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A6X3-01A-21D-A32B-08	TCGA-QH-A6X3-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec60d9fe-8eeb-4461-b98a-1a1d913e86cb	808dfeb8-ac5b-44c3-8007-fd214fda4ab2	g.chr3:15686469C>T	ENST00000383778.4	+	4	1404	c.1046C>T	c.(1045-1047)cCg>cTg	p.P349L	BTD_ENST00000437172.1_Missense_Mutation_p.P371L|BTD_ENST00000303498.5_Missense_Mutation_p.P369L|BTD_ENST00000449107.1_Missense_Mutation_p.P371L	NM_001281725.1	NP_001268654.1	P43251	BTD_HUMAN	biotinidase	369	CN hydrolase.				central nervous system development|epidermis development|nitrogen compound metabolic process	extracellular space	biotin carboxylase activity|biotinidase activity			breast(2)|endometrium(3)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	18						TCAGGCGATCCGTACTGTGAG	0.468													4	109					0	0	1	0	0	T	15686469	C	T	15686469	3	4	388	1	0	0	0	0	1	0	0	0	1553	652	23	1	1120	1	BTD	3	15686469	Missense_Mutation	SNP	C	TCGA-QH-A6X3-01A-21D-A32B-08		15686469	182335961	5	33011											
CCDC110	256309	broad.mit.edu	37	4	186380647	186380647	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A6X3-01A-21D-A32B-08	TCGA-QH-A6X3-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec60d9fe-8eeb-4461-b98a-1a1d913e86cb	808dfeb8-ac5b-44c3-8007-fd214fda4ab2	g.chr4:186380647C>T	ENST00000307588.3	-	6	1169	c.1094G>A	c.(1093-1095)gGc>gAc	p.G365D	CCDC110_ENST00000393540.3_Missense_Mutation_p.G328D|CCDC110_ENST00000510617.1_Missense_Mutation_p.G365D	NM_152775.3	NP_689988.1	Q8TBZ0	CC110_HUMAN	coiled-coil domain containing 110	365						nucleus				NS(1)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(9)	30		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749)		OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164)		AATATTTTTGCCAGTGATGGG	0.323													4	124					0	0	1	0	0	T	186380647	C	T	186380647	3	4	388	1	0	0	0	0	1	0	0	0	2765	739	26	2	1415	2	CCDC110	4	186380647	Missense_Mutation	SNP	C	TCGA-QH-A6X3-01A-21D-A32B-08		186380647	4773629	6	33012											
TRIML1	339976	broad.mit.edu	37	4	189060901	189060901	+	Silent	SNP	G	G	A	rs147444946	byFrequency	TCGA-QH-A6X3-01A-21D-A32B-08	TCGA-QH-A6X3-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec60d9fe-8eeb-4461-b98a-1a1d913e86cb	808dfeb8-ac5b-44c3-8007-fd214fda4ab2	g.chr4:189060901G>A	ENST00000332517.3	+	1	329	c.189G>A	c.(187-189)ccG>ccA	p.P63P		NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	63					multicellular organismal development		ligase activity|zinc ion binding			NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		TGGAGGGCCCGCATTTCCAGT	0.602													6	113					0	0	1	0	0	A	189060901	G	A	189060901	2	1	388	1	0	0	0	0	0	0	0	1	16611	1074	38	1		1	TRIML1	4	189060901	Silent	SNP	G	TCGA-QH-A6X3-01A-21D-A32B-08	2680254	189060901	2093375	7	33013											
MAP3K5	4217	broad.mit.edu	37	6	136904865	136904865	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A6X3-01A-21D-A32B-08	TCGA-QH-A6X3-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec60d9fe-8eeb-4461-b98a-1a1d913e86cb	808dfeb8-ac5b-44c3-8007-fd214fda4ab2	g.chr6:136904865G>A	ENST00000359015.4	-	24	3599	c.3239C>T	c.(3238-3240)cCg>cTg	p.P1080L	MAP3K5_ENST00000463140.1_5'UTR|MAP3K5_ENST00000355845.4_Missense_Mutation_p.P327L	NM_005923.3	NP_005914.1	Q99683	M3K5_HUMAN	mitogen-activated protein kinase kinase kinase 5	1080					activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms		ATP binding|caspase activator activity|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein phosphatase binding			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		TTTTAGTTTCGGTTCTTCAGC	0.453													6	94					0	0	1	0	0	A	136904865	G	A	136904865	3	1	388	1	0	0	0	0	1	0	0	0	9303	1116	39	1	913	1	MAP3K5	6	136904865	Missense_Mutation	SNP	G	TCGA-QH-A6X3-01A-21D-A32B-08		136904865	34210202	8	33014											
ADAM7	8756	broad.mit.edu	37	8	24323222	24323222	+	Missense_Mutation	SNP	T	T	C			TCGA-QH-A6X3-01A-21D-A32B-08	TCGA-QH-A6X3-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec60d9fe-8eeb-4461-b98a-1a1d913e86cb	808dfeb8-ac5b-44c3-8007-fd214fda4ab2	g.chr8:24323222T>C	ENST00000175238.6	+	5	406	c.323T>C	c.(322-324)tTt>tCt	p.F108S	RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA|ADAM7_ENST00000380789.1_Missense_Mutation_p.F108S|ADAM7_ENST00000441335.2_Missense_Mutation_p.F108S	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN	ADAM metallopeptidase domain 7	108					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		GATCATTGTTTTTACCAAGGA	0.284													17	24					0	0	1	0	0	C	24323222	T	C	24323222	3	2	388	1	0	0	0	0	1	0	0	0	250	1841	64	3	341	3	ADAM7	8	24323222	Missense_Mutation	SNP	T	TCGA-QH-A6X3-01A-21D-A32B-08		24323222	122040800	9	33015											
FAM129B	64855	broad.mit.edu	37	9	130294013	130294013	+	Missense_Mutation	SNP	C	C	G			TCGA-QH-A6X3-01A-21D-A32B-08	TCGA-QH-A6X3-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec60d9fe-8eeb-4461-b98a-1a1d913e86cb	808dfeb8-ac5b-44c3-8007-fd214fda4ab2	g.chr9:130294013C>G	ENST00000373312.3	-	2	313	c.100G>C	c.(100-102)Gac>Cac	p.D34H	FAM129B_ENST00000468379.1_5'UTR|FAM129B_ENST00000373314.3_Missense_Mutation_p.D21H	NM_022833.2	NP_073744.2	Q96TA1	NIBL1_HUMAN	family with sequence similarity 129, member B	34							protein binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						CCATACTGGTCTTCATAGAAC	0.577													5	63					0	0	1	0	0	G	130294013	C	G	130294013	3	3	388	1	0	0	0	0	1	0	0	0	5468	913	32	4	2192	4	FAM129B	9	130294013	Missense_Mutation	SNP	C	TCGA-QH-A6X3-01A-21D-A32B-08		130294013	10919418	10	33016											
NOTCH1	4851	broad.mit.edu	37	9	139413070	139413072	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-QH-A6X3-01A-21D-A32B-08	TCGA-QH-A6X3-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec60d9fe-8eeb-4461-b98a-1a1d913e86cb	808dfeb8-ac5b-44c3-8007-fd214fda4ab2	g.chr9:139413070_139413072delAGA	ENST00000277541.6	-	6	1145_1147	c.1070_1072delTCT	c.(1069-1074)ttctac>tac	p.F357del		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	357	EGF-like 9; calcium-binding (Potential).				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	p.F357delF(4)		breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CACTCGCAGTAGAAGGAGGCCAC	0.655			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			8	17	---	---	---	---						-	139413072	AGA	-	139413070	7	5	388	1	0	1	0	1	0	0	0	0	10594	420	15	0	6711	0	NOTCH1	9	139413070	In_Frame_Del	DEL	AGA	TCGA-QH-A6X3-01A-21D-A32B-08	9119057	139413070	1800361	11	33017											
PTEN	5728	broad.mit.edu	37	10	89624270	89624270	+	Missense_Mutation	SNP	G	G	C			TCGA-QH-A6X3-01A-21D-A32B-08	TCGA-QH-A6X3-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec60d9fe-8eeb-4461-b98a-1a1d913e86cb	808dfeb8-ac5b-44c3-8007-fd214fda4ab2	g.chr10:89624270G>C	ENST00000371953.3	+	1	1401	c.44G>C	c.(43-45)aGa>aCa	p.R15T		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	15	Phosphatase tensin-type.		R -> S (in glioma).		activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.?(13)|p.R15I(3)|p.R15fs*23(1)|p.R15K(1)|p.R14fs*26(1)|p.N12fs*6(1)|p.R14_D22del(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		AACAAAAGGAGATATCAAGAG	0.478		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			3	68					0	0	1	0	0	C	89624270	G	C	89624270	3	2	388	1	0	0	0	0	1	0	0	0	12787	942	33	4	46	4	PTEN	10	89624270	Missense_Mutation	SNP	G	TCGA-QH-A6X3-01A-21D-A32B-08		89624270	45910477	12	33018											
TRIM3	10612	broad.mit.edu	37	11	6486802	6486804	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-QH-A6X3-01A-21D-A32B-08	TCGA-QH-A6X3-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec60d9fe-8eeb-4461-b98a-1a1d913e86cb	808dfeb8-ac5b-44c3-8007-fd214fda4ab2	g.chr11:6486802_6486804delAGA	ENST00000525074.1	-	2	516_518	c.122_124delTCT	c.(121-126)ttctgt>tgt	p.F41del	TRIM3_ENST00000537602.1_In_Frame_Del_p.F41del|TRIM3_ENST00000536344.1_Intron|TRIM3_ENST00000345851.3_In_Frame_Del_p.F41del|TRIM3_ENST00000359518.3_In_Frame_Del_p.F41del	NM_001248006.1	NP_001234935.1	O75382	TRIM3_HUMAN	tripartite motif containing 3	41					nervous system development|protein transport	early endosome	protein C-terminus binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(3)	27		all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CACCTCTCACAGAAGGTGTGCAG	0.596													9	88	---	---	---	---						-	6486804	AGA	-	6486802	7	5	388	1	0	1	0	1	0	0	0	0	16565	188	7	0	2154	0	TRIM3	11	6486802	In_Frame_Del	DEL	AGA	TCGA-QH-A6X3-01A-21D-A32B-08		6486802	128519714	13	33019											
FOLH1	2346	broad.mit.edu	37	11	49179513	49179513	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A6X3-01A-21D-A32B-08	TCGA-QH-A6X3-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec60d9fe-8eeb-4461-b98a-1a1d913e86cb	808dfeb8-ac5b-44c3-8007-fd214fda4ab2	g.chr11:49179513C>T	ENST00000340334.7	-	15	1846	c.1478G>A	c.(1477-1479)gGc>gAc	p.G493D	FOLH1_ENST00000343844.4_Missense_Mutation_p.G200D|FOLH1_ENST00000533034.1_Missense_Mutation_p.G493D|FOLH1_ENST00000256999.2_Missense_Mutation_p.G508D|FOLH1_ENST00000356696.3_Missense_Mutation_p.G508D	NM_001193471.1|NM_001193472.1	NP_001180400.1|NP_001180401.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	508	NAALADase.				proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)|L-Glutamic Acid(DB00142)	CCTGGGCATGCCACTGAACTC	0.348													3	50					0	0	1	0	0	T	49179513	C	T	49179513	3	4	388	1	0	0	0	0	1	0	0	0	6012	739	26	2	753	2	FOLH1	11	49179513	Missense_Mutation	SNP	C	TCGA-QH-A6X3-01A-21D-A32B-08	42692711	49179513	85827003	14	33020											
OR5D14	219436	broad.mit.edu	37	11	55563199	55563199	+	Silent	SNP	A	A	G			TCGA-QH-A6X3-01A-21D-A32B-08	TCGA-QH-A6X3-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec60d9fe-8eeb-4461-b98a-1a1d913e86cb	808dfeb8-ac5b-44c3-8007-fd214fda4ab2	g.chr11:55563199A>G	ENST00000335605.1	+	1	168	c.168A>G	c.(166-168)aaA>aaG	p.K56K		NM_001004735.1	NP_001004735.1	Q8NGL3	OR5DE_HUMAN	olfactory receptor, family 5, subfamily D, member 14	56					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48		all_epithelial(135;0.196)				TTAACCCCAAATTTCACACTC	0.388													4	76					0	0	1	0	0	G	55563199	A	G	55563199	2	3	388	1	0	0	0	0	0	0	0	1	11202	98	4	3		3	OR5D14	11	55563199	Silent	SNP	A	TCGA-QH-A6X3-01A-21D-A32B-08	6383686	55563199	79443317	15	33021											
MYO7A	4647	broad.mit.edu	37	11	76903174	76903174	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A6X3-01A-21D-A32B-08	TCGA-QH-A6X3-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec60d9fe-8eeb-4461-b98a-1a1d913e86cb	808dfeb8-ac5b-44c3-8007-fd214fda4ab2	g.chr11:76903174G>A	ENST00000409709.3	+	31	4275	c.4003G>A	c.(4003-4005)Gcc>Acc	p.A1335T	MYO7A_ENST00000458637.2_Missense_Mutation_p.A1335T|MYO7A_ENST00000409619.2_Missense_Mutation_p.A1324T	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	1335	FERM 1.				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						GGAGCAGGGCGCCCAGGAGCG	0.662											OREG0021258	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	16					0	0	1	0	0	A	76903174	G	A	76903174	3	1	388	1	0	0	0	0	1	0	0	0	10130	1087	38	1	4155	1	MYO7A	11	76903174	Missense_Mutation	SNP	G	TCGA-QH-A6X3-01A-21D-A32B-08	21339975	76903174	58103342	16	33022											
KCNA1	3736	broad.mit.edu	37	12	5021170	5021170	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A6X3-01A-21D-A32B-08	TCGA-QH-A6X3-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec60d9fe-8eeb-4461-b98a-1a1d913e86cb	808dfeb8-ac5b-44c3-8007-fd214fda4ab2	g.chr12:5021170C>T	ENST00000382545.3	+	2	1733	c.626C>T	c.(625-627)aCg>aTg	p.T209M	KCNA1_ENST00000543874.2_Intron	NM_000217.2	NP_000208.2	Q09470	KCNA1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)	209					synaptic transmission	juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity			NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63					Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	GACAACACCACGGTCATCTAC	0.542													32	28					0	0	1	0	0	T	5021170	C	T	5021170	3	4	388	1	0	0	0	0	1	0	0	0	8045	536	19	1	628	1	KCNA1	12	5021170	Missense_Mutation	SNP	C	TCGA-QH-A6X3-01A-21D-A32B-08		5021170	128830725	17	33023											
KLHL1	57626	broad.mit.edu	37	13	70293517	70293517	+	Missense_Mutation	SNP	G	G	T			TCGA-QH-A6X3-01A-21D-A32B-08	TCGA-QH-A6X3-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec60d9fe-8eeb-4461-b98a-1a1d913e86cb	808dfeb8-ac5b-44c3-8007-fd214fda4ab2	g.chr13:70293517G>T	ENST00000377844.4	-	9	2758	c.1999C>A	c.(1999-2001)Ctg>Atg	p.L667M	KLHL1_ENST00000545028.1_Missense_Mutation_p.L474M	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	667					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		ACATAATCCAGTAGCCGGGAA	0.463													28	40					1.55811e-20	1.60139e-20	1	1	0	T	70293517	G	T	70293517	3	4	388	1	0	0	0	0	1	0	0	0	8408	1020	36	4	259	4	KLHL1	13	70293517	Missense_Mutation	SNP	G	TCGA-QH-A6X3-01A-21D-A32B-08		70293517	44876361	18	33024											
POTEG	404785	broad.mit.edu	37	14	19553596	19553596	+	Missense_Mutation	SNP	G	G	C			TCGA-QH-A6X3-01A-21D-A32B-08	TCGA-QH-A6X3-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec60d9fe-8eeb-4461-b98a-1a1d913e86cb	808dfeb8-ac5b-44c3-8007-fd214fda4ab2	g.chr14:19553596G>C	ENST00000409832.3	+	1	232	c.180G>C	c.(178-180)aaG>aaC	p.K60N		NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	60										cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						TCAGGAGCAAGATGGGCAAGT	0.612													10	841					0	0	1	0	0	C	19553596	G	C	19553596	3	2	388	1	0	0	0	0	1	0	0	0	12313	933	33	4	182	4	POTEG	14	19553596	Missense_Mutation	SNP	G	TCGA-QH-A6X3-01A-21D-A32B-08		19553596	87795944	19	33025											
NEDD4	4734	broad.mit.edu	37	15	56142778	56142778	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A6X3-01A-21D-A32B-08	TCGA-QH-A6X3-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec60d9fe-8eeb-4461-b98a-1a1d913e86cb	808dfeb8-ac5b-44c3-8007-fd214fda4ab2	g.chr15:56142778G>A	ENST00000508342.1	-	10	2865	c.2566C>T	c.(2566-2568)Cct>Tct	p.P856S	NEDD4_ENST00000506154.1_Missense_Mutation_p.P840S|NEDD4_ENST00000338963.2_Missense_Mutation_p.P784S|NEDD4_ENST00000435532.3_Missense_Mutation_p.P437S	NM_001284338.1	NP_001271267.1	P46934	NEDD4_HUMAN	neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase	856	Mediates interaction with TNIK (By similarity).|WW 3.				development involved in symbiotic interaction|glucocorticoid receptor signaling pathway|negative regulation of sodium ion transport|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage|negative regulation of vascular endothelial growth factor receptor signaling pathway|neuron projection development|positive regulation of nucleocytoplasmic transport|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein catabolic process|progesterone receptor signaling pathway|protein K63-linked ubiquitination|protein targeting to lysosome|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|receptor internalization|regulation of dendrite morphogenesis|response to calcium ion|transmission of virus	apicolateral plasma membrane|cell cortex|chromatin|cytosol|perinuclear region of cytoplasm|ubiquitin ligase complex	beta-2 adrenergic receptor binding|phosphoserine binding|phosphothreonine binding|proline-rich region binding|protein domain specific binding|RNA polymerase binding|sodium channel inhibitor activity|ubiquitin binding|ubiquitin-protein ligase activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	43				all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)		ATAAAGAAAGGCCTCCCATTT	0.428													16	242					0	0	1	0	0	A	56142778	G	A	56142778	3	1	388	1	0	0	0	0	1	0	0	0	10357	1203	42	2	1457	2	NEDD4	15	56142778	Missense_Mutation	SNP	G	TCGA-QH-A6X3-01A-21D-A32B-08		56142778	46388614	20	33026											
RORA	6095	broad.mit.edu	37	15	61521357	61521357	+	Frame_Shift_Del	DEL	C	C	-			TCGA-QH-A6X3-01A-21D-A32B-08	TCGA-QH-A6X3-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec60d9fe-8eeb-4461-b98a-1a1d913e86cb	808dfeb8-ac5b-44c3-8007-fd214fda4ab2	g.chr15:61521357delC	ENST00000335670.6	-	1	161	c.61delG	c.(61-63)gacfs	p.D21fs		NM_134261.2	NP_599023.1	P35398	RORA_HUMAN	RAR-related orphan receptor A	0	Modulating.				positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	21						GCGGCCGCGTCCGCGCCGCTG	0.692													2	4	---	---	---	---						-	61521357	C	-	61521357	7	5	388	1	0	1	0	1	0	0	0	0	13580	855	30	0	2034	0	RORA	15	61521357	Frame_Shift_Del	DEL	C	TCGA-QH-A6X3-01A-21D-A32B-08	5378579	61521357	41010035	21	33027											
WWP2	11060	broad.mit.edu	37	16	69833165	69833166	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-QH-A6X3-01A-21D-A32B-08	TCGA-QH-A6X3-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec60d9fe-8eeb-4461-b98a-1a1d913e86cb	808dfeb8-ac5b-44c3-8007-fd214fda4ab2	g.chr16:69833165_69833166delCT	ENST00000359154.2	+	4	408_409	c.307_308delCT	c.(307-309)ctcfs	p.L103fs	WWP2_ENST00000544162.1_3'UTR|WWP2_ENST00000569174.1_Frame_Shift_Del_p.L103fs|WWP2_ENST00000448661.1_Frame_Shift_Del_p.L103fs|WWP2_ENST00000356003.2_Frame_Shift_Del_p.L103fs	NM_001270454.1|NM_007014.4	NP_001257383.1|NP_008945.2	O00308	WWP2_HUMAN	WW domain containing E3 ubiquitin protein ligase 2	103					entry of virus into host cell|negative regulation of protein transport|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transporter activity|proteasomal ubiquitin-dependent protein catabolic process|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|ubiquitin ligase complex	RNA polymerase II transcription factor binding|ubiquitin-protein ligase activity			breast(4)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						ATCTGTCAACCTCTCCAACGTC	0.49											OREG0023909	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	27	47	---	---	---	---						-	69833166	CT	-	69833165	7	5	388	1	0	1	0	1	0	0	0	0	17476	681	24	0	317	0	WWP2	16	69833165	Frame_Shift_Del	DEL	CT	TCGA-QH-A6X3-01A-21D-A32B-08		69833165	20521588	22	33028											
TP53	7157	broad.mit.edu	37	17	7579319	7579323	+	Frame_Shift_Del	DEL	GTCAC	GTCAC	-			TCGA-QH-A6X3-01A-21D-A32B-08	TCGA-QH-A6X3-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec60d9fe-8eeb-4461-b98a-1a1d913e86cb	808dfeb8-ac5b-44c3-8007-fd214fda4ab2	g.chr17:7579319_7579323delGTCAC	ENST00000420246.2	-	4	496_500	c.364_368delGTGAC	c.(364-369)gtgactfs	p.VT122fs	TP53_ENST00000445888.2_Frame_Shift_Del_p.VT122fs|TP53_ENST00000269305.4_Frame_Shift_Del_p.VT122fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.VT122fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.VT122fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.VT122fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	122	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		V -> L (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.0?(8)|p.V122fs*26(5)|p.G59fs*23(3)|p.T123I(1)|p.V73fs*9(1)|p.T123fs*24(1)|p.G105_T125del21(1)|p.G112_V122delGFLHSGTAKSV(1)|p.V122fs*46(1)|p.Y107fs*44(1)|p.V122L(1)|p.P13fs*18(1)|p.S33fs*23(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)		GACCGTGCAAGTCACAGACTTGGCT	0.551		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)			63	11	---	---	---	---						-	7579323	GTCAC	-	7579319	7	5	388	1	0	1	0	1	0	0	0	0	16442	1029	36	0	934	0	TP53	17	7579319	Frame_Shift_Del	DEL	GTCAC	TCGA-QH-A6X3-01A-21D-A32B-08		7579319	73615891	23	33029											
ARHGAP27	201176	broad.mit.edu	37	17	43475409	43475409	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A6X3-01A-21D-A32B-08	TCGA-QH-A6X3-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec60d9fe-8eeb-4461-b98a-1a1d913e86cb	808dfeb8-ac5b-44c3-8007-fd214fda4ab2	g.chr17:43475409C>T	ENST00000532038.1	-	9	1217	c.1082G>A	c.(1081-1083)cGg>cAg	p.R361Q	ARHGAP27_ENST00000376922.2_Missense_Mutation_p.R242Q|ARHGAP27_ENST00000455881.1_Missense_Mutation_p.R242Q|ARHGAP27_ENST00000428638.1_Missense_Mutation_p.R583Q|ARHGAP27_ENST00000532891.2_Missense_Mutation_p.R561Q|ARHGAP27_ENST00000528384.1_Missense_Mutation_p.R215Q|ARHGAP27_ENST00000582826.1_5'UTR|ARHGAP27_ENST00000442348.1_Missense_Mutation_p.R556Q			Q6ZUM4	RHG27_HUMAN	Rho GTPase activating protein 27	583					positive regulation of Cdc42 GTPase activity|receptor-mediated endocytosis|signal transduction	cytoplasm|membrane	Rac GTPase activator activity|SH3 domain binding			endometrium(4)|large_intestine(9)|lung(3)|skin(1)	17	Renal(3;0.0405)					ATCTCGGCTCCGTAGCTGGAG	0.592													25	26					0	0	1	0	0	T	43475409	C	T	43475409	3	4	388	1	0	0	0	0	1	0	0	0	873	652	23	1	953	1	ARHGAP27	17	43475409	Missense_Mutation	SNP	C	TCGA-QH-A6X3-01A-21D-A32B-08	35896090	43475409	37719801	24	33030											
TRIM65	201292	broad.mit.edu	37	17	73892940	73892940	+	Frame_Shift_Del	DEL	A	A	-			TCGA-QH-A6X3-01A-21D-A32B-08	TCGA-QH-A6X3-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec60d9fe-8eeb-4461-b98a-1a1d913e86cb	808dfeb8-ac5b-44c3-8007-fd214fda4ab2	g.chr17:73892940delA	ENST00000269383.3	-	1	144	c.79delT	c.(79-81)tgcfs	p.C27fs		NM_001256124.1|NM_173547.3	NP_001243053.1|NP_775818.2	Q6PJ69	TRI65_HUMAN	tripartite motif containing 65	27						intracellular	zinc ion binding			endometrium(1)|kidney(1)|lung(5)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12			Epithelial(20;7.53e-06)|all cancers(21;9.11e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00092)|LUSC - Lung squamous cell carcinoma(166;0.154)			TTGTGGCCGCAGGGCAGCGTC	0.721													2	4	---	---	---	---						-	73892940	A	-	73892940	7	5	388	1	0	1	0	1	0	0	0	0	16600	188	7	0	1498	0	TRIM65	17	73892940	Frame_Shift_Del	DEL	A	TCGA-QH-A6X3-01A-21D-A32B-08	30417531	73892940	7302270	25	33031											
DLGAP1	9229	broad.mit.edu	37	18	3879314	3879314	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A6X3-01A-21D-A32B-08	TCGA-QH-A6X3-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec60d9fe-8eeb-4461-b98a-1a1d913e86cb	808dfeb8-ac5b-44c3-8007-fd214fda4ab2	g.chr18:3879314C>T	ENST00000315677.3	-	4	1350	c.755G>A	c.(754-756)cGg>cAg	p.R252Q	DLGAP1_ENST00000515196.2_Missense_Mutation_p.R252Q|DLGAP1_ENST00000584874.1_Missense_Mutation_p.R252Q|DLGAP1_ENST00000581527.1_Missense_Mutation_p.R252Q|DLGAP1-AS3_ENST00000577649.1_RNA	NM_004746.3	NP_004737.2	O14490	DLGP1_HUMAN	discs, large (Drosophila) homolog-associated protein 1	252					synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56		Colorectal(8;0.0257)				GTTGTTGCTCCGGGAGGCCTT	0.657													19	35					0	0	1	0	0	T	3879314	C	T	3879314	3	4	388	1	0	0	0	0	1	0	0	0	4587	652	23	1	2273	1	DLGAP1	18	3879314	Missense_Mutation	SNP	C	TCGA-QH-A6X3-01A-21D-A32B-08		3879314	74197934	26	33032											
EPB41L3	23136	broad.mit.edu	37	18	5398132	5398132	+	Missense_Mutation	SNP	G	G	C			TCGA-QH-A6X3-01A-21D-A32B-08	TCGA-QH-A6X3-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec60d9fe-8eeb-4461-b98a-1a1d913e86cb	808dfeb8-ac5b-44c3-8007-fd214fda4ab2	g.chr18:5398132G>C	ENST00000341928.2	-	17	2700	c.2360C>G	c.(2359-2361)tCt>tGt	p.S787C	EPB41L3_ENST00000400111.3_Intron|EPB41L3_ENST00000542652.2_Intron|EPB41L3_ENST00000342933.3_Missense_Mutation_p.S787C|EPB41L3_ENST00000544123.1_Missense_Mutation_p.S618C|EPB41L3_ENST00000542146.1_Missense_Mutation_p.S92C|EPB41L3_ENST00000427684.2_Missense_Mutation_p.S84C|EPB41L3_ENST00000540638.2_Intron	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	787	Spectrin--actin-binding (Potential).				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						TTCCCCAGAAGACTGCTTAGT	0.418													91	156					0	0	1	0	0	C	5398132	G	C	5398132	3	2	388	1	0	0	0	0	1	0	0	0	5182	942	33	4	927	4	EPB41L3	18	5398132	Missense_Mutation	SNP	G	TCGA-QH-A6X3-01A-21D-A32B-08	1518818	5398132	72679116	27	33033	144	2									
EPB41L3	23136	broad.mit.edu	37	18	5398141	5398141	+	Splice_Site	SNP	G	G	C			TCGA-QH-A6X3-01A-21D-A32B-08	TCGA-QH-A6X3-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec60d9fe-8eeb-4461-b98a-1a1d913e86cb	808dfeb8-ac5b-44c3-8007-fd214fda4ab2	g.chr18:5398141G>C	ENST00000341928.2	-	17	2691	c.2351C>G	c.(2350-2352)aCt>aGt	p.T784S	EPB41L3_ENST00000400111.3_Intron|EPB41L3_ENST00000542652.2_Intron|EPB41L3_ENST00000342933.3_Splice_Site_p.T784S|EPB41L3_ENST00000544123.1_Splice_Site_p.T615S|EPB41L3_ENST00000542146.1_Splice_Site_p.T89S|EPB41L3_ENST00000427684.2_Splice_Site_p.T81S|EPB41L3_ENST00000540638.2_Intron	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	784	Spectrin--actin-binding (Potential).				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						AGACTGCTTAGTCTGAGTGAA	0.433													85	147					0	0	1	0	0	C	5398141	G	C	5398141	5	2	388	1	0	0	0	0	0	0	1	0	5182	1043	36	4	936	4	EPB41L3	18	5398141	Splice_Site	SNP	G	TCGA-QH-A6X3-01A-21D-A32B-08	9	5398141	72679107	28	33034	144	2									
LIPI	149998	broad.mit.edu	37	21	15537704	15537704	+	Missense_Mutation	SNP	T	T	A			TCGA-QH-A6X3-01A-21D-A32B-08	TCGA-QH-A6X3-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec60d9fe-8eeb-4461-b98a-1a1d913e86cb	808dfeb8-ac5b-44c3-8007-fd214fda4ab2	g.chr21:15537704T>A	ENST00000344577.2	-	6	829	c.804A>T	c.(802-804)caA>caT	p.Q268H	LIPI_ENST00000536861.1_Missense_Mutation_p.Q247H	NM_198996.2	NP_945347.1	Q6XZB0	LIPI_HUMAN	lipase, member I	247					lipid catabolic process	extracellular region|extracellular space|membrane|plasma membrane	heparin binding|phospholipase activity			endometrium(1)|kidney(13)|large_intestine(9)|liver(3)|lung(24)|ovary(3)|urinary_tract(1)	54				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166)		ATTTAATGAATTGAATTCCTT	0.299													26	25					0	0	1	0	0	A	15537704	T	A	15537704	3	1	388	1	0	0	0	0	1	0	0	0	8866	1490	52	4	661	4	LIPI	21	15537704	Missense_Mutation	SNP	T	TCGA-QH-A6X3-01A-21D-A32B-08		15537704	32592191	29	33035											
GNAZ	2781	broad.mit.edu	37	22	23438508	23438508	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A6X3-01A-21D-A32B-08	TCGA-QH-A6X3-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec60d9fe-8eeb-4461-b98a-1a1d913e86cb	808dfeb8-ac5b-44c3-8007-fd214fda4ab2	g.chr22:23438508G>A	ENST00000248996.4	+	2	1292	c.626G>A	c.(625-627)cGc>cAc	p.R209H	RTDR1_ENST00000216036.4_Intron	NM_002073.2	NP_002064.1	P19086	GNAZ_HUMAN	guanine nucleotide binding protein (G protein), alpha z polypeptide	209						endoplasmic reticulum|heterotrimeric G-protein complex|nuclear envelope	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|metabotropic serotonin receptor binding|receptor signaling protein activity			endometrium(3)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(5)|urinary_tract(1)	19	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.166)		AGGTCAGAGCGCAAAAAGTGG	0.562													4	188					0	0	1	0	0	A	23438508	G	A	23438508	3	1	388	1	0	0	0	0	1	0	0	0	6556	1087	38	1	628	1	GNAZ	22	23438508	Missense_Mutation	SNP	G	TCGA-QH-A6X3-01A-21D-A32B-08		23438508	27866058	30	33036											
DGKK	139189	broad.mit.edu	37	X	50165596	50165597	+	RNA	DEL	AC	AC	-	rs72026364		TCGA-QH-A6X3-01A-21D-A32B-08	TCGA-QH-A6X3-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec60d9fe-8eeb-4461-b98a-1a1d913e86cb	808dfeb8-ac5b-44c3-8007-fd214fda4ab2	g.chrX:50165596_50165597delAC	ENST00000376025.2	-	0	816							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					TAAAAGGTAAacacacacacac	0.411													2	4	---	---	---	---						-	50165597	AC	-	50165596	6	5	388	0	1	1	0	1	0	0	0	0	4500	58	2	0		0	DGKK	23	50165596	RNA	DEL	AC	TCGA-QH-A6X3-01A-21D-A32B-08		50165596	105104964	31	33037											
ATRX	546	broad.mit.edu	37	X	76937611	76937615	+	Frame_Shift_Del	DEL	CTTTT	CTTTT	-			TCGA-QH-A6X3-01A-21D-A32B-08	TCGA-QH-A6X3-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec60d9fe-8eeb-4461-b98a-1a1d913e86cb	808dfeb8-ac5b-44c3-8007-fd214fda4ab2	g.chrX:76937611_76937615delCTTTT	ENST00000373344.5	-	9	3347_3351	c.3133_3137delAAAAG	c.(3133-3138)aaaagtfs	p.KS1045fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.KS1007fs	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1045					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)	TATTTTTTTACTTTTCTTTTCTCCA	0.337			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						35	19	---	---	---	---						-	76937615	CTTTT	-	76937611	7	5	388	1	0	1	0	1	0	0	0	0	1206	565	20	0	4449	0	ATRX	23	76937611	Frame_Shift_Del	DEL	CTTTT	TCGA-QH-A6X3-01A-21D-A32B-08	26772015	76937611	78332949	32	33038											
FUBP1	8880	broad.mit.edu	37	1	78422268	78422271	+	Frame_Shift_Del	DEL	GTTT	GTTT	-			TCGA-QH-A6X4-01A-51D-A32B-08	TCGA-QH-A6X4-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efd92c1a-5310-48e7-887f-e1336b1cff21	ee07165f-dd39-44ce-bbd3-5ebaa3afeb95	g.chr1:78422268_78422271delGTTT	ENST00000370767.1	-	17	1778_1781	c.1691_1694delAAAC	c.(1690-1695)caaactfs	p.QT564fs	FUBP1_ENST00000436586.2_Frame_Shift_Del_p.QT585fs|FUBP1_ENST00000370768.2_Frame_Shift_Del_p.QT564fs			Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1	564					transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						TTGTCCATTAGTTTGAGTTGTAGT	0.407			"F, N"		oligodendroglioma								15	16	---	---	---	---						-	78422271	GTTT	-	78422268	7	5	389	1	0	1	0	1	0	0	0	0	6127	1029	36	0	256	0	FUBP1	1	78422268	Frame_Shift_Del	DEL	GTTT	TCGA-QH-A6X4-01A-51D-A32B-08		78422268	170828353	1	33039											
CAPN9	10753	broad.mit.edu	37	1	230903392	230903392	+	Missense_Mutation	SNP	G	G	C			TCGA-QH-A6X4-01A-51D-A32B-08	TCGA-QH-A6X4-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efd92c1a-5310-48e7-887f-e1336b1cff21	ee07165f-dd39-44ce-bbd3-5ebaa3afeb95	g.chr1:230903392G>C	ENST00000354537.1	+	5	724	c.642G>C	c.(640-642)gaG>gaC	p.E214D	CAPN9_ENST00000366666.2_Missense_Mutation_p.E151D|RP11-99J16__A.2_ENST00000412344.1_RNA|CAPN9_ENST00000271971.2_Missense_Mutation_p.E214D	NM_016452.1	NP_057536.1	O14815	CAN9_HUMAN	calpain 9	214	Calpain catalytic.				digestion|proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	25	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)				AGGCCCCCGAGAACTTCTATG	0.537													39	51					0	0	1	0	0	C	230903392	G	C	230903392	3	2	389	1	0	0	0	0	1	0	0	0	2650	933	33	4	660	4	CAPN9	1	230903392	Missense_Mutation	SNP	G	TCGA-QH-A6X4-01A-51D-A32B-08	152481124	230903392	18347229	2	33040											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-QH-A6X4-01A-51D-A32B-08	TCGA-QH-A6X4-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efd92c1a-5310-48e7-887f-e1336b1cff21	ee07165f-dd39-44ce-bbd3-5ebaa3afeb95	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	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								16	39					0	0	1	0	0	T	209113112	C	T	209113112	3	4	389	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-QH-A6X4-01A-51D-A32B-08		209113112	34086261	3	33041											
SPP2	6694	broad.mit.edu	37	2	234959502	234959502	+	Silent	SNP	C	C	T			TCGA-QH-A6X4-01A-51D-A32B-08	TCGA-QH-A6X4-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efd92c1a-5310-48e7-887f-e1336b1cff21	ee07165f-dd39-44ce-bbd3-5ebaa3afeb95	g.chr2:234959502C>T	ENST00000168148.3	+	1	160	c.72C>T	c.(70-72)taC>taT	p.Y24Y	SPP2_ENST00000492481.1_3'UTR|SPP2_ENST00000373368.1_Silent_p.Y24Y	NM_006944.2	NP_008875.1	Q13103	SPP24_HUMAN	secreted phosphoprotein 2, 24kDa	24					bone remodeling|skeletal system development	extracellular region	endopeptidase inhibitor activity			breast(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)	12		Breast(86;0.0109)|Renal(207;0.019)|all_lung(227;0.13)|all_hematologic(139;0.182)		Epithelial(121;5.73e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000166)|Lung(119;0.00539)|LUSC - Lung squamous cell carcinoma(224;0.00846)		GAATGAACTACTGGTCTTGCT	0.473													49	88					0	0	1	0	0	T	234959502	C	T	234959502	2	4	389	1	0	0	0	0	0	0	0	1	15143	576	20	2		2	SPP2	2	234959502	Silent	SNP	C	TCGA-QH-A6X4-01A-51D-A32B-08	25846390	234959502	8239871	4	33042											
CCR2	729230	broad.mit.edu	37	3	46399083	46399083	+	Missense_Mutation	SNP	C	C	G			TCGA-QH-A6X4-01A-51D-A32B-08	TCGA-QH-A6X4-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efd92c1a-5310-48e7-887f-e1336b1cff21	ee07165f-dd39-44ce-bbd3-5ebaa3afeb95	g.chr3:46399083C>G	ENST00000292301.4	+	2	550	c.65C>G	c.(64-66)aCc>aGc	p.T22S	CCR2_ENST00000445132.2_Missense_Mutation_p.T22S|CCR2_ENST00000400888.2_Missense_Mutation_p.T22S|CCR2_ENST00000465202.1_Intron	NM_001123041.2	NP_001116513.2	P41597	CCR2_HUMAN	chemokine (C-C motif) receptor 2	22					astrocyte cell migration|blood vessel remodeling|cellular defense response|chemokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response|interspecies interaction between organisms|JAK-STAT cascade|monocyte extravasation|negative regulation of adenylate cyclase activity|negative regulation of angiogenesis|negative regulation of eosinophil degranulation|negative regulation of type 2 immune response|positive regulation of alpha-beta T cell proliferation|positive regulation of immune complex clearance by monocytes and macrophages|positive regulation of inflammatory response|positive regulation of interferon-gamma production|positive regulation of interleukin-2 production|positive regulation of monocyte chemotaxis|positive regulation of T cell chemotaxis|positive regulation of T cell extravasation|positive regulation of T-helper 1 type immune response|positive regulation of tumor necrosis factor biosynthetic process|regulation of vascular endothelial growth factor production|T-helper 17 cell chemotaxis	cytosol|dendrite|integral to plasma membrane|perikaryon|perinuclear region of cytoplasm|soluble fraction	C-C chemokine receptor activity|CCR2 chemokine receptor binding|protein homodimerization activity			breast(3)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)	14				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0174)|Kidney(197;0.0206)		GAAGTCACCACCTTTTTTGAT	0.468													32	52					0	0	1	0	0	G	46399083	C	G	46399083	3	3	389	1	0	0	0	0	1	0	0	0	2963	507	18	5	67	5	CCR2	3	46399083	Missense_Mutation	SNP	C	TCGA-QH-A6X4-01A-51D-A32B-08		46399083	151623347	5	33043											
FAIM	55179	broad.mit.edu	37	3	138351879	138351879	+	Silent	SNP	T	T	G			TCGA-QH-A6X4-01A-51D-A32B-08	TCGA-QH-A6X4-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efd92c1a-5310-48e7-887f-e1336b1cff21	ee07165f-dd39-44ce-bbd3-5ebaa3afeb95	g.chr3:138351879T>G	ENST00000338446.4	+	6	1283	c.600T>G	c.(598-600)acT>acG	p.T200T	FAIM_ENST00000360570.3_Silent_p.T188T|FAIM_ENST00000464668.1_Silent_p.T166T|FAIM_ENST00000393034.2_Silent_p.T166T|FAIM_ENST00000393035.2_Silent_p.T166T	NM_001033030.1	NP_001028202.1	Q9NVQ4	FAIM1_HUMAN	Fas apoptotic inhibitory molecule	166					apoptosis	cytoplasm				kidney(1)|upper_aerodigestive_tract(1)	2						TTATTCATACTCTCATTGTGG	0.358													33	42					0	0	1	0	0	G	138351879	T	G	138351879	2	3	389	1	0	0	0	0	0	0	0	1	5406	1538	54	5		5	FAIM	3	138351879	Silent	SNP	T	TCGA-QH-A6X4-01A-51D-A32B-08	91952796	138351879	59670551	6	33044											
PCDH18	54510	broad.mit.edu	37	4	138452455	138452455	+	Missense_Mutation	SNP	G	G	C			TCGA-QH-A6X4-01A-51D-A32B-08	TCGA-QH-A6X4-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efd92c1a-5310-48e7-887f-e1336b1cff21	ee07165f-dd39-44ce-bbd3-5ebaa3afeb95	g.chr4:138452455G>C	ENST00000344876.4	-	1	1174	c.788C>G	c.(787-789)aCt>aGt	p.T263S	PCDH18_ENST00000507846.1_Missense_Mutation_p.T43S|PCDH18_ENST00000412923.2_Missense_Mutation_p.T263S|PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000510305.1_Intron	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	263	Cadherin 3.				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					TAAGAGCAAAGTGCCAACCGG	0.413													31	12					0	0	1	0	0	C	138452455	G	C	138452455	3	2	389	1	0	0	0	0	1	0	0	0	11560	1029	36	4	2635	4	PCDH18	4	138452455	Missense_Mutation	SNP	G	TCGA-QH-A6X4-01A-51D-A32B-08		138452455	52701821	7	33045											
RASGRF2	5924	broad.mit.edu	37	5	80408515	80408515	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A6X4-01A-51D-A32B-08	TCGA-QH-A6X4-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efd92c1a-5310-48e7-887f-e1336b1cff21	ee07165f-dd39-44ce-bbd3-5ebaa3afeb95	g.chr5:80408515C>T	ENST00000265080.4	+	14	1992	c.1925C>T	c.(1924-1926)gCc>gTc	p.A642V		NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 2	642	N-terminal Ras-GEF.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	protein binding|Rho guanyl-nucleotide exchange factor activity			biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		ATCCGTTATGCCAGCGTGGAG	0.483													4	205					0	0	1	0	0	T	80408515	C	T	80408515	3	4	389	1	0	0	0	0	1	0	0	0	13125	739	26	2	1979	2	RASGRF2	5	80408515	Missense_Mutation	SNP	C	TCGA-QH-A6X4-01A-51D-A32B-08		80408515	100506745	8	33046											
CEP120	153241	broad.mit.edu	37	5	122754074	122754074	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A6X4-01A-51D-A32B-08	TCGA-QH-A6X4-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efd92c1a-5310-48e7-887f-e1336b1cff21	ee07165f-dd39-44ce-bbd3-5ebaa3afeb95	g.chr5:122754074C>T	ENST00000306467.5	-	2	489	c.185G>A	c.(184-186)aGg>aAg	p.R62K	CEP120_ENST00000328236.5_Missense_Mutation_p.R62K|CEP120_ENST00000306481.6_Missense_Mutation_p.R36K|CEP120_ENST00000395431.2_Missense_Mutation_p.R62K			Q8N960	CE120_HUMAN	centrosomal protein 120kDa	62						centrosome				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	29						AAGCGCTTTCCTGTCAATTTC	0.383													19	23					0	0	1	0	0	T	122754074	C	T	122754074	3	4	389	1	0	0	0	0	1	0	0	0	3268	681	24	2	2851	2	CEP120	5	122754074	Missense_Mutation	SNP	C	TCGA-QH-A6X4-01A-51D-A32B-08	42345559	122754074	58161186	9	33047											
HNRNPA0	10949	broad.mit.edu	37	5	137089260	137089260	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A6X4-01A-51D-A32B-08	TCGA-QH-A6X4-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efd92c1a-5310-48e7-887f-e1336b1cff21	ee07165f-dd39-44ce-bbd3-5ebaa3afeb95	g.chr5:137089260G>A	ENST00000314940.4	-	1	779	c.496C>T	c.(496-498)Cat>Tat	p.H166Y		NM_006805.3	NP_006796.1	Q13151	ROA0_HUMAN	heterogeneous nuclear ribonucleoprotein A0	166	RRM 2.				nuclear mRNA splicing, via spliceosome	heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|RNA binding			large_intestine(1)|lung(2)|skin(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TCCACGCGATGGCCCTGAATC	0.642													8	10					0	0	1	0	0	A	137089260	G	A	137089260	3	1	389	1	0	0	0	0	1	0	0	0	7297	1348	47	2	425	2	HNRNPA0	5	137089260	Missense_Mutation	SNP	G	TCGA-QH-A6X4-01A-51D-A32B-08	14335186	137089260	43826000	10	33048											
ITPR3	3710	broad.mit.edu	37	6	33650337	33650337	+	Missense_Mutation	SNP	A	A	G			TCGA-QH-A6X4-01A-51D-A32B-08	TCGA-QH-A6X4-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efd92c1a-5310-48e7-887f-e1336b1cff21	ee07165f-dd39-44ce-bbd3-5ebaa3afeb95	g.chr6:33650337A>G	ENST00000374316.5	+	35	5573	c.4513A>G	c.(4513-4515)Acc>Gcc	p.T1505A	ITPR3_ENST00000605930.1_Missense_Mutation_p.T1505A			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	1505					activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						GCTGCAGTCTACCACACGCCT	0.662													25	42					0	0	1	0	0	G	33650337	A	G	33650337	3	3	389	1	0	0	0	0	1	0	0	0	7966	391	14	3	4647	3	ITPR3	6	33650337	Missense_Mutation	SNP	A	TCGA-QH-A6X4-01A-51D-A32B-08		33650337	137464730	11	33049											
PTK7	5754	broad.mit.edu	37	6	43109996	43109996	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A6X4-01A-51D-A32B-08	TCGA-QH-A6X4-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efd92c1a-5310-48e7-887f-e1336b1cff21	ee07165f-dd39-44ce-bbd3-5ebaa3afeb95	g.chr6:43109996G>A	ENST00000230419.4	+	13	2227	c.2006G>A	c.(2005-2007)aGc>aAc	p.S669N	PTK7_ENST00000349241.2_Missense_Mutation_p.S539N|PTK7_ENST00000352931.2_Intron|PTK7_ENST00000481273.1_Missense_Mutation_p.S677N|PTK7_ENST00000345201.2_Missense_Mutation_p.S629N	NM_002821.4	NP_002812.2	Q13308	PTK7_HUMAN	protein tyrosine kinase 7	669	Ig-like C2-type 7.				actin cytoskeleton reorganization|canonical Wnt receptor signaling pathway|cell adhesion|cell migration	cell-cell junction|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			GCAGGCAACAGCTGCAACATC	0.597													16	22					0	0	1	0	0	A	43109996	G	A	43109996	3	1	389	1	0	0	0	0	1	0	0	0	12815	971	34	2	2056	2	PTK7	6	43109996	Missense_Mutation	SNP	G	TCGA-QH-A6X4-01A-51D-A32B-08	9459659	43109996	128005071	12	33050											
CYP3A43	64816	broad.mit.edu	37	7	99453218	99453218	+	Silent	SNP	C	C	T			TCGA-QH-A6X4-01A-51D-A32B-08	TCGA-QH-A6X4-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efd92c1a-5310-48e7-887f-e1336b1cff21	ee07165f-dd39-44ce-bbd3-5ebaa3afeb95	g.chr7:99453218C>T	ENST00000354829.2	+	8	778	c.675C>T	c.(673-675)ctC>ctT	p.L225L	CYP3A43_ENST00000415413.1_Intron|CYP3A43_ENST00000417625.1_Silent_p.L115L|CYP3A43_ENST00000477658.1_3'UTR|CYP3A43_ENST00000342499.4_Intron|CYP3A43_ENST00000444905.1_Intron|CYP3A43_ENST00000312017.5_Silent_p.L225L|CYP3A43_ENST00000222382.5_Silent_p.L225L	NM_022820.3|NM_057095.1	NP_073731.1|NP_476436.1	Q9HB55	CP343_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 43	225			Missing (in allele CYP3A43*2).		xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1)	19	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)				Cetirizine(DB00341)|Doxycycline(DB00254)	CTATAGCACTCTTTCCATTTC	0.279													14	20					0	0	1	0	0	T	99453218	C	T	99453218	2	4	389	1	0	0	0	0	0	0	0	1	4202	900	32	2		2	CYP3A43	7	99453218	Silent	SNP	C	TCGA-QH-A6X4-01A-51D-A32B-08		99453218	59685445	13	33051											
DNAI1	27019	broad.mit.edu	37	9	34493301	34493301	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A6X4-01A-51D-A32B-08	TCGA-QH-A6X4-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efd92c1a-5310-48e7-887f-e1336b1cff21	ee07165f-dd39-44ce-bbd3-5ebaa3afeb95	g.chr9:34493301G>A	ENST00000242317.4	+	9	962	c.791G>A	c.(790-792)aGg>aAg	p.R264K	DNAI1_ENST00000488369.1_3'UTR	NM_001281428.1|NM_012144.2	NP_001268357.1|NP_036276.1	Q9UI46	DNAI1_HUMAN	dynein, axonemal, intermediate chain 1	264					cell projection organization	cilium axoneme|cytoplasm|dynein complex|microtubule	motor activity			autonomic_ganglia(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|prostate(1)|skin(2)|urinary_tract(1)	34	all_epithelial(49;0.244)		LUSC - Lung squamous cell carcinoma(29;0.0107)|STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.0222)		ATGGCCATGAGGAAGCTGACA	0.478									Kartagener syndrome				18	30					0	0	1	0	0	A	34493301	G	A	34493301	3	1	389	1	0	0	0	0	1	0	0	0	4636	1000	35	2	825	2	DNAI1	9	34493301	Missense_Mutation	SNP	G	TCGA-QH-A6X4-01A-51D-A32B-08		34493301	106720130	14	33052											
SVIL	6840	broad.mit.edu	37	10	29779937	29779937	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A6X4-01A-51D-A32B-08	TCGA-QH-A6X4-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efd92c1a-5310-48e7-887f-e1336b1cff21	ee07165f-dd39-44ce-bbd3-5ebaa3afeb95	g.chr10:29779937G>A	ENST00000375398.2	-	24	4480	c.4031C>T	c.(4030-4032)tCc>tTc	p.S1344F	SVIL_ENST00000375400.3_Missense_Mutation_p.S918F|SVIL_ENST00000538146.1_Missense_Mutation_p.S136F|SVIL_ENST00000535393.1_Missense_Mutation_p.S258F|SVIL_ENST00000355867.4_Missense_Mutation_p.S1344F			O95425	SVIL_HUMAN	supervillin	1344					cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				CTCGGCCACGGAAGACGTCAA	0.587													4	26					0	0	1	0	0	A	29779937	G	A	29779937	3	1	389	1	0	0	0	0	1	0	0	0	15477	1174	41	2	2681	2	SVIL	10	29779937	Missense_Mutation	SNP	G	TCGA-QH-A6X4-01A-51D-A32B-08		29779937	105754810	15	33053											
AGAP11	119385	broad.mit.edu	37	10	88769470	88769470	+	RNA	SNP	C	C	T			TCGA-QH-A6X4-01A-51D-A32B-08	TCGA-QH-A6X4-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efd92c1a-5310-48e7-887f-e1336b1cff21	ee07165f-dd39-44ce-bbd3-5ebaa3afeb95	g.chr10:88769470C>T	ENST00000444431.1	+	0	4070				RP11-96C23.14_ENST00000444180.3_RNA|RP11-96C23.5_ENST00000433214.2_RNA			Q8TF27	AGA11_HUMAN	ankyrin repeat and GTPase domain Arf GTPase activating protein 11						regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding										GGGAGGGAGACGGCTGCACGG	0.672													36	81					0	0	1	0	0	T	88769470	C	T	88769470	1	4	389	0	1	0	0	0	0	0	0	0	366	535	19	1		1	AGAP11	10	88769470	RNA	SNP	C	TCGA-QH-A6X4-01A-51D-A32B-08	58989533	88769470	46765277	16	33054											
CELF1	10658	broad.mit.edu	37	11	47498502	47498502	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A6X4-01A-51D-A32B-08	TCGA-QH-A6X4-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efd92c1a-5310-48e7-887f-e1336b1cff21	ee07165f-dd39-44ce-bbd3-5ebaa3afeb95	g.chr11:47498502G>A	ENST00000395290.2	-	9	905	c.896C>T	c.(895-897)tCa>tTa	p.S299L	CELF1_ENST00000531165.1_Missense_Mutation_p.S328L|CELF1_ENST00000532048.1_Missense_Mutation_p.S326L|CELF1_ENST00000358597.3_Missense_Mutation_p.S300L|CELF1_ENST00000310513.5_Missense_Mutation_p.S296L|CELF1_ENST00000361904.3_Missense_Mutation_p.S297L|CELF1_ENST00000395292.2_Missense_Mutation_p.S297L	NM_001025596.2|NM_001172640.1	NP_001020767.1|NP_001166111.1	Q92879	CELF1_HUMAN	CUGBP, Elav-like family member 1	300	Ser-rich.				embryo development|mRNA splice site selection|regulation of RNA splicing|RNA interference	cytoplasm|nucleus|ribonucleoprotein complex	BRE binding|mRNA binding|nucleotide binding|translation repressor activity, nucleic acid binding			central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(2)	18						AGAGCTAGGTGAGGACCCTGC	0.463													26	34					0	0	1	0	0	A	47498502	G	A	47498502	3	1	389	1	0	0	0	0	1	0	0	0	3237	1294	45	2	577	2	CELF1	11	47498502	Missense_Mutation	SNP	G	TCGA-QH-A6X4-01A-51D-A32B-08		47498502	87508014	17	33055											
PRDM10	56980	broad.mit.edu	37	11	129814836	129814836	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A6X4-01A-51D-A32B-08	TCGA-QH-A6X4-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efd92c1a-5310-48e7-887f-e1336b1cff21	ee07165f-dd39-44ce-bbd3-5ebaa3afeb95	g.chr11:129814836G>A	ENST00000358825.5	-	6	823	c.592C>T	c.(592-594)Cgg>Tgg	p.R198W	PRDM10_ENST00000526082.1_Missense_Mutation_p.R112W|PRDM10_ENST00000304538.6_Missense_Mutation_p.R112W|PRDM10_ENST00000528746.1_Missense_Mutation_p.R172W|PRDM10_ENST00000423662.2_Missense_Mutation_p.R112W|PRDM10_ENST00000360871.3_Missense_Mutation_p.R198W	NM_020228.2	NP_064613.2	Q9NQV6	PRD10_HUMAN	PR domain containing 10	198					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)		AGCACCGGCCGGTTGGGGATC	0.617													4	56					0	0	1	0	0	A	129814836	G	A	129814836	3	1	389	1	0	0	0	0	1	0	0	0	12503	1115	39	1	2958	1	PRDM10	11	129814836	Missense_Mutation	SNP	G	TCGA-QH-A6X4-01A-51D-A32B-08	82316334	129814836	5191680	18	33056											
AACS	65985	broad.mit.edu	37	12	125603203	125603203	+	Nonsense_Mutation	SNP	G	G	A			TCGA-QH-A6X4-01A-51D-A32B-08	TCGA-QH-A6X4-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efd92c1a-5310-48e7-887f-e1336b1cff21	ee07165f-dd39-44ce-bbd3-5ebaa3afeb95	g.chr12:125603203G>A	ENST00000316519.6	+	10	1219	c.1013G>A	c.(1012-1014)tGg>tAg	p.W338*	AACS_ENST00000316543.10_5'UTR|AACS_ENST00000261686.6_Nonsense_Mutation_p.W338*	NM_023928.3	NP_076417.2	Q86V21	AACS_HUMAN	acetoacetyl-CoA synthetase	338					fatty acid metabolic process	cytosol	acetoacetate-CoA ligase activity|ATP binding			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|liver(1)|lung(16)|ovary(1)|stomach(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;9.82e-05)|Epithelial(86;0.000642)|all cancers(50;0.00843)		TGGATGATGTGGAACTGGATG	0.652													9	12					0	0	1	0	0	A	125603203	G	A	125603203	4	1	389	1	0	0	0	0	0	1	0	0	9	1357	47	2	1051	2	AACS	12	125603203	Nonsense_Mutation	SNP	G	TCGA-QH-A6X4-01A-51D-A32B-08		125603203	8248692	19	33057											
TXNDC16	57544	broad.mit.edu	37	14	52985913	52985913	+	Missense_Mutation	SNP	T	T	C			TCGA-QH-A6X4-01A-51D-A32B-08	TCGA-QH-A6X4-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efd92c1a-5310-48e7-887f-e1336b1cff21	ee07165f-dd39-44ce-bbd3-5ebaa3afeb95	g.chr14:52985913T>C	ENST00000281741.4	-	7	862	c.491A>G	c.(490-492)tAt>tGt	p.Y164C	TXNDC16_ENST00000554399.1_Intron	NM_001160047.1|NM_020784.2	NP_001153519.1|NP_065835.2	Q9P2K2	TXD16_HUMAN	thioredoxin domain containing 16	164					cell redox homeostasis	extracellular region				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(3)|skin(1)	21	Breast(41;0.0716)					GGCTCTTACATATGAGAATAT	0.318													22	10					0	0	1	0	0	C	52985913	T	C	52985913	3	2	389	1	0	0	0	0	1	0	0	0	16857	1406	49	3	2046	3	TXNDC16	14	52985913	Missense_Mutation	SNP	T	TCGA-QH-A6X4-01A-51D-A32B-08		52985913	54363627	20	33058											
KLHL14	57565	broad.mit.edu	37	18	30275430	30275430	+	Silent	SNP	C	C	T			TCGA-QH-A6X4-01A-51D-A32B-08	TCGA-QH-A6X4-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efd92c1a-5310-48e7-887f-e1336b1cff21	ee07165f-dd39-44ce-bbd3-5ebaa3afeb95	g.chr18:30275430C>T	ENST00000359358.4	-	4	1593	c.1155G>A	c.(1153-1155)ccG>ccA	p.P385P		NM_020805.1	NP_065856.1	Q9P2G3	KLH14_HUMAN	kelch-like family member 14	385						cytosol|endoplasmic reticulum membrane				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2)	31						AGTTACCATTCGGATTCCACT	0.418													3	28					0	0	1	0	0	T	30275430	C	T	30275430	2	4	389	1	0	0	0	0	0	0	0	1	8413	871	31	1		1	KLHL14	18	30275430	Silent	SNP	C	TCGA-QH-A6X4-01A-51D-A32B-08		30275430	47801818	21	33059											
MUC16	94025	broad.mit.edu	37	19	9075528	9075528	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A6X4-01A-51D-A32B-08	TCGA-QH-A6X4-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efd92c1a-5310-48e7-887f-e1336b1cff21	ee07165f-dd39-44ce-bbd3-5ebaa3afeb95	g.chr19:9075528G>A	ENST00000397910.4	-	3	12121	c.11918C>T	c.(11917-11919)gCg>gTg	p.A3973V		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3975	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TTTGGATGACGCTGAGTGGGC	0.488													8	13					0	0	1	0	0	A	9075528	G	A	9075528	3	1	389	1	0	0	0	0	1	0	0	0	10021	1087	38	1	31933	1	MUC16	19	9075528	Missense_Mutation	SNP	G	TCGA-QH-A6X4-01A-51D-A32B-08		9075528	50053455	22	33060											
CIC	23152	broad.mit.edu	37	19	42795433	42795433	+	Frame_Shift_Del	DEL	T	T	-			TCGA-QH-A6X4-01A-51D-A32B-08	TCGA-QH-A6X4-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efd92c1a-5310-48e7-887f-e1336b1cff21	ee07165f-dd39-44ce-bbd3-5ebaa3afeb95	g.chr19:42795433delT	ENST00000572681.2	+	11	5308	c.5240delT	c.(5239-5241)gtgfs	p.V1747fs	CIC_ENST00000575354.2_Frame_Shift_Del_p.V838fs|CIC_ENST00000160740.3_Frame_Shift_Del_p.V838fs			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	838					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CAGCTTCAGGTGGCACCTGCC	0.682			"Mis, F, S"		oligodendroglioma								9	5	---	---	---	---						-	42795433	T	-	42795433	7	5	389	1	0	1	0	1	0	0	0	0	3446	1696	59	0	2551	0	CIC	19	42795433	Frame_Shift_Del	DEL	T	TCGA-QH-A6X4-01A-51D-A32B-08	33719905	42795433	16333550	23	33061											
ZNF543	125919	broad.mit.edu	37	19	57835059	57835059	+	Missense_Mutation	SNP	A	A	G			TCGA-QH-A6X4-01A-51D-A32B-08	TCGA-QH-A6X4-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efd92c1a-5310-48e7-887f-e1336b1cff21	ee07165f-dd39-44ce-bbd3-5ebaa3afeb95	g.chr19:57835059A>G	ENST00000321545.4	+	2	373	c.28A>G	c.(28-30)Acc>Gcc	p.T10A		NM_213598.3	NP_998763.2	Q08ER8	ZN543_HUMAN	zinc finger protein 543	10	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|kidney(2)|large_intestine(8)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	28		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;0.0257)		GGTGTCTGTGACCTTTGAGGA	0.493													27	11					0	0	1	0	0	G	57835059	A	G	57835059	3	3	389	1	0	0	0	0	1	0	0	0	18033	275	10	3	34	3	ZNF543	19	57835059	Missense_Mutation	SNP	A	TCGA-QH-A6X4-01A-51D-A32B-08	15039626	57835059	1293924	24	33062											
ZNF773	374928	broad.mit.edu	37	19	58018648	58018648	+	Missense_Mutation	SNP	C	C	A			TCGA-QH-A6X4-01A-51D-A32B-08	TCGA-QH-A6X4-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efd92c1a-5310-48e7-887f-e1336b1cff21	ee07165f-dd39-44ce-bbd3-5ebaa3afeb95	g.chr19:58018648C>A	ENST00000282292.4	+	4	1325	c.1185C>A	c.(1183-1185)ttC>ttA	p.F395L	ZNF773_ENST00000593916.1_Intron|ZNF773_ENST00000599847.1_Intron|ZNF773_ENST00000598770.1_Missense_Mutation_p.F394L	NM_198542.1	NP_940944.1	Q6PK81	ZN773_HUMAN	zinc finger protein 773	395					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	22		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;0.0254)		GTGGGAGATTCTTTAGTGAGA	0.423													42	31					1.8453e-21	1.89261e-21	1	1	0	A	58018648	C	A	58018648	3	1	389	1	0	0	0	0	1	0	0	0	18195	912	32	4	1199	4	ZNF773	19	58018648	Missense_Mutation	SNP	C	TCGA-QH-A6X4-01A-51D-A32B-08	183589	58018648	1110335	25	33063											
MYH7B	57644	broad.mit.edu	37	20	33578596	33578596	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A6X4-01A-51D-A32B-08	TCGA-QH-A6X4-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efd92c1a-5310-48e7-887f-e1336b1cff21	ee07165f-dd39-44ce-bbd3-5ebaa3afeb95	g.chr20:33578596G>A	ENST00000262873.7	+	21	2251	c.2159G>A	c.(2158-2160)cGc>cAc	p.R720H		NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	678	Myosin head-like.					membrane|myosin filament	actin binding|ATP binding|motor activity			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			CACTTCGTCCGCTGCATTGTC	0.627													26	26					0	0	1	0	0	A	33578596	G	A	33578596	3	1	389	1	0	0	0	0	1	0	0	0	10088	1087	38	1	2241	1	MYH7B	20	33578596	Missense_Mutation	SNP	G	TCGA-QH-A6X4-01A-51D-A32B-08		33578596	29446924	26	33064											
NCAM2	4685	broad.mit.edu	37	21	22710761	22710761	+	Silent	SNP	A	A	G			TCGA-QH-A6X4-01A-51D-A32B-08	TCGA-QH-A6X4-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efd92c1a-5310-48e7-887f-e1336b1cff21	ee07165f-dd39-44ce-bbd3-5ebaa3afeb95	g.chr21:22710761A>G	ENST00000400546.1	+	8	1200	c.951A>G	c.(949-951)caA>caG	p.Q317Q	NCAM2_ENST00000284894.7_Silent_p.Q175Q|NCAM2_ENST00000535285.1_Silent_p.Q342Q	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	317	Ig-like C2-type 4.				neuron cell-cell adhesion	integral to membrane|plasma membrane				breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		AGAATGGTCAAGTCACACTCG	0.393													14	27					0	0	1	0	0	G	22710761	A	G	22710761	2	3	389	1	0	0	0	0	0	0	0	1	10250	69	3	3		3	NCAM2	21	22710761	Silent	SNP	A	TCGA-QH-A6X4-01A-51D-A32B-08		22710761	25419134	27	33065											
PLA2G3	50487	broad.mit.edu	37	22	31535869	31535869	+	Missense_Mutation	SNP	A	A	G			TCGA-QH-A6X4-01A-51D-A32B-08	TCGA-QH-A6X4-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efd92c1a-5310-48e7-887f-e1336b1cff21	ee07165f-dd39-44ce-bbd3-5ebaa3afeb95	g.chr22:31535869A>G	ENST00000215885.3	-	1	724	c.472T>C	c.(472-474)Tgg>Cgg	p.W158R		NM_015715.3	NP_056530.2	Q9NZ20	PA2G3_HUMAN	phospholipase A2, group III	158	Phospholipase A2-like.				cilium morphogenesis|lipid catabolic process|phospholipid metabolic process	centriole|extracellular space|plasma membrane	calcium ion binding|calcium-dependent phospholipase A2 activity			large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	18						ACTCCACACCACAGTGTGCCA	0.622													12	18					0	0	1	0	0	G	31535869	A	G	31535869	3	3	389	1	0	0	0	0	1	0	0	0	12048	159	6	3	1085	3	PLA2G3	22	31535869	Missense_Mutation	SNP	A	TCGA-QH-A6X4-01A-51D-A32B-08		31535869	19768697	28	33066											
GSTM2	2946	broad.mit.edu	37	1	110217422	110217422	+	Silent	SNP	T	T	C			TCGA-QH-A6X5-01A-12D-A32B-08	TCGA-QH-A6X5-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03f9927-7659-4b18-ba66-cf2ca08ebca0	a7a5ca94-5e0a-43f3-b61e-705dbfb979d7	g.chr1:110217422T>C	ENST00000241337.4	+	8	671	c.621T>C	c.(619-621)ccT>ccC	p.P207P	GSTM2_ENST00000414179.2_Intron|GSTM2_ENST00000369827.3_Silent_p.P168P|GSTM2_ENST00000442650.1_Intron|GSTM2_ENST00000369831.2_Intron|GSTM2_ENST00000460717.3_Intron	NM_000848.3	NP_000839.1			glutathione S-transferase mu 2 (muscle)											kidney(1)|large_intestine(2)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)	11		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		all cancers(265;0.0122)|Colorectal(144;0.0129)|Epithelial(280;0.0146)|Lung(183;0.0422)|COAD - Colon adenocarcinoma(174;0.047)|LUSC - Lung squamous cell carcinoma(189;0.227)		TCCCAAGACCTGTGTTCACAA	0.577													4	55					0	0	1	0	0	C	110217422	T	C	110217422	2	2	390	1	0	0	0	0	0	0	0	1	6879	1567	55	3		3	GSTM2	1	110217422	Silent	SNP	T	TCGA-QH-A6X5-01A-12D-A32B-08		110217422	139033199	1	33067											
ASTN1	460	broad.mit.edu	37	1	177001793	177001793	+	Missense_Mutation	SNP	C	C	T	rs148328689		TCGA-QH-A6X5-01A-12D-A32B-08	TCGA-QH-A6X5-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03f9927-7659-4b18-ba66-cf2ca08ebca0	a7a5ca94-5e0a-43f3-b61e-705dbfb979d7	g.chr1:177001793C>T	ENST00000367654.3	-	3	875	c.664G>A	c.(664-666)Gtg>Atg	p.V222M	ASTN1_ENST00000367657.3_Missense_Mutation_p.V222M|ASTN1_ENST00000424564.2_Missense_Mutation_p.V222M|ASTN1_ENST00000361833.2_Missense_Mutation_p.V222M|ASTN1_ENST00000281881.3_5'UTR	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1						cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						TGGCCCTGCACGCGGGCATTG	0.602													4	52					0	0	1	0	0	T	177001793	C	T	177001793	3	4	390	1	0	0	0	0	1	0	0	0	1063	536	19	1	3308	1	ASTN1	1	177001793	Missense_Mutation	SNP	C	TCGA-QH-A6X5-01A-12D-A32B-08	66784371	177001793	72248828	2	33068											
EDEM3	80267	broad.mit.edu	37	1	184686700	184686700	+	Missense_Mutation	SNP	C	C	G			TCGA-QH-A6X5-01A-12D-A32B-08	TCGA-QH-A6X5-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03f9927-7659-4b18-ba66-cf2ca08ebca0	a7a5ca94-5e0a-43f3-b61e-705dbfb979d7	g.chr1:184686700C>G	ENST00000318130.8	-	12	1485	c.1219G>C	c.(1219-1221)Gca>Cca	p.A407P	EDEM3_ENST00000367512.3_Missense_Mutation_p.A364P	NM_025191.3	NP_079467.3	Q9BZQ6	EDEM3_HUMAN	ER degradation enhancer, mannosidase alpha-like 3	407					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						GTACTTTCTGCAAATTCTGGC	0.333													3	55					0	0	1	0	0	G	184686700	C	G	184686700	3	3	390	1	0	0	0	0	1	0	0	0	4939	710	25	5	1615	5	EDEM3	1	184686700	Missense_Mutation	SNP	C	TCGA-QH-A6X5-01A-12D-A32B-08	7684907	184686700	64563921	3	33069											
WDR75	84128	broad.mit.edu	37	2	190316559	190316559	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A6X5-01A-12D-A32B-08	TCGA-QH-A6X5-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03f9927-7659-4b18-ba66-cf2ca08ebca0	a7a5ca94-5e0a-43f3-b61e-705dbfb979d7	g.chr2:190316559C>T	ENST00000314761.4	+	4	371	c.311C>T	c.(310-312)gCc>gTc	p.A104V		NM_032168.1	NP_115544.1	Q8IWA0	WDR75_HUMAN	WD repeat domain 75	104						nucleolus				breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.00105)|Epithelial(96;0.0129)|all cancers(119;0.0456)			AAACTTCATGCCCTCTTTACT	0.383													4	149					0	0	1	0	0	T	190316559	C	T	190316559	3	4	390	1	0	0	0	0	1	0	0	0	17385	739	26	2	325	2	WDR75	2	190316559	Missense_Mutation	SNP	C	TCGA-QH-A6X5-01A-12D-A32B-08		190316559	52882814	4	33070											
C2orf88	84281	broad.mit.edu	37	2	191064711	191064711	+	Missense_Mutation	SNP	T	T	C			TCGA-QH-A6X5-01A-12D-A32B-08	TCGA-QH-A6X5-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03f9927-7659-4b18-ba66-cf2ca08ebca0	a7a5ca94-5e0a-43f3-b61e-705dbfb979d7	g.chr2:191064711T>C	ENST00000340623.4	+	2	536	c.125T>C	c.(124-126)gTt>gCt	p.V42A	C2orf88_ENST00000409870.1_Missense_Mutation_p.V42A|C2orf88_ENST00000396974.2_Missense_Mutation_p.V42A|C2orf88_ENST00000443551.2_Missense_Mutation_p.V42A	NM_001042519.1|NM_001042520.1|NM_001042521.1|NM_032321.2	NP_001035984.1|NP_001035985.1|NP_001035986.1|NP_115697.2	Q9BSF0	CB088_HUMAN	chromosome 2 open reading frame 88	42										kidney(1)|large_intestine(1)|lung(1)	3						GCTTCTCCAGTTAATGTCAAA	0.458													17	116					0	0	1	0	0	C	191064711	T	C	191064711	3	2	390	1	0	0	0	0	1	0	0	0	2216	1725	60	3	127	3	C2orf88	2	191064711	Missense_Mutation	SNP	T	TCGA-QH-A6X5-01A-12D-A32B-08	748152	191064711	52134662	5	33071											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-QH-A6X5-01A-12D-A32B-08	TCGA-QH-A6X5-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03f9927-7659-4b18-ba66-cf2ca08ebca0	a7a5ca94-5e0a-43f3-b61e-705dbfb979d7	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	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								8	36					0	0	1	0	0	T	209113112	C	T	209113112	3	4	390	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-QH-A6X5-01A-12D-A32B-08	18048401	209113112	34086261	6	33072											
ODAM	54959	broad.mit.edu	37	4	71063664	71063664	+	Silent	SNP	A	A	G			TCGA-QH-A6X5-01A-12D-A32B-08	TCGA-QH-A6X5-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03f9927-7659-4b18-ba66-cf2ca08ebca0	a7a5ca94-5e0a-43f3-b61e-705dbfb979d7	g.chr4:71063664A>G	ENST00000396094.2	+	4	213	c.165A>G	c.(163-165)ccA>ccG	p.P55P		NM_017855.3	NP_060325.3	A1E959	ODAM_HUMAN	odontogenic, ameloblast asssociated	55					biomineral tissue development|odontogenesis of dentine-containing tooth	fibril				NS(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(8)|ovary(3)|skin(2)	20						CATGGATTCCACCTTTCTCTG	0.423													10	108					0	0	1	0	0	G	71063664	A	G	71063664	2	3	390	1	0	0	0	0	0	0	0	1	10872	146	6	3		3	ODAM	4	71063664	Silent	SNP	A	TCGA-QH-A6X5-01A-12D-A32B-08		71063664	120090612	7	33073											
ANTXR2	118429	broad.mit.edu	37	4	80940082	80940082	+	Frame_Shift_Del	DEL	T	T	-			TCGA-QH-A6X5-01A-12D-A32B-08	TCGA-QH-A6X5-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03f9927-7659-4b18-ba66-cf2ca08ebca0	a7a5ca94-5e0a-43f3-b61e-705dbfb979d7	g.chr4:80940082delT	ENST00000403729.2	-	11	1440	c.915delA	c.(913-915)tcafs	p.S305fs	ANTXR2_ENST00000404191.1_Frame_Shift_Del_p.S228fs|ANTXR2_ENST00000346652.6_Intron|ANTXR2_ENST00000307333.7_Frame_Shift_Del_p.S305fs	NM_058172.5	NP_477520.2	P58335	ANTR2_HUMAN	anthrax toxin receptor 2	305						endoplasmic reticulum membrane|extracellular region|integral to membrane|plasma membrane	metal ion binding|protein binding|receptor activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	13						TTAATGATCCTGAAATGACAG	0.303									Juvenile Hyaline Fibromatosis				2	4	---	---	---	---						-	80940082	T	-	80940082	7	5	390	1	0	1	0	1	0	0	0	0	706	1567	55	0	621	0	ANTXR2	4	80940082	Frame_Shift_Del	DEL	T	TCGA-QH-A6X5-01A-12D-A32B-08	9876418	80940082	110214194	8	33074											
ADH4	127	broad.mit.edu	37	4	100047870	100047870	+	Silent	SNP	T	T	C			TCGA-QH-A6X5-01A-12D-A32B-08	TCGA-QH-A6X5-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03f9927-7659-4b18-ba66-cf2ca08ebca0	a7a5ca94-5e0a-43f3-b61e-705dbfb979d7	g.chr4:100047870T>C	ENST00000508393.1	-	9	1215	c.1050A>G	c.(1048-1050)gtA>gtG	p.V350V	ADH4_ENST00000423445.1_Silent_p.V350V|RP11-696N14.1_ENST00000500358.2_RNA|ADH4_ENST00000505590.1_Silent_p.V350V|ADH4_ENST00000265512.7_Silent_p.V331V			P08319	ADH4_HUMAN	alcohol dehydrogenase 4 (class II), pi polypeptide	331					alcohol catabolic process|cellular aldehyde metabolic process|ethanol oxidation|quinone cofactor metabolic process|retinol metabolic process|xenobiotic metabolic process	cytosol|microtubule cytoskeleton	alcohol dehydrogenase activity, zinc-dependent|all-trans retinal binding|benzaldehyde dehydrogenase activity|NAD binding|NADPH:quinone reductase activity|retinol binding|retinol dehydrogenase activity|zinc ion binding			NS(1)|cervix(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)|skin(2)	18				OV - Ovarian serous cystadenocarcinoma(123;4.48e-08)	NADH(DB00157)	GGATAGAATCTACACTTTTCC	0.373													6	72					0	0	1	0	0	C	100047870	T	C	100047870	2	2	390	1	0	0	0	0	0	0	0	1	309	1509	53	3		3	ADH4	4	100047870	Silent	SNP	T	TCGA-QH-A6X5-01A-12D-A32B-08	19107788	100047870	91106406	9	33075											
LRBA	987	broad.mit.edu	37	4	151821338	151821338	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A6X5-01A-12D-A32B-08	TCGA-QH-A6X5-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03f9927-7659-4b18-ba66-cf2ca08ebca0	a7a5ca94-5e0a-43f3-b61e-705dbfb979d7	g.chr4:151821338G>A	ENST00000535741.1	-	14	2260	c.1787C>T	c.(1786-1788)aCg>aTg	p.T596M	LRBA_ENST00000510413.1_Missense_Mutation_p.T596M|LRBA_ENST00000357115.3_Missense_Mutation_p.T596M|LRBA_ENST00000507224.1_Missense_Mutation_p.T596M			P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	596						endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					AATGAATTCCGTGGACAGATA	0.408													11	51					0	0	1	0	0	A	151821338	G	A	151821338	3	1	390	1	0	0	0	0	1	0	0	0	8976	1145	40	1	6984	1	LRBA	4	151821338	Missense_Mutation	SNP	G	TCGA-QH-A6X5-01A-12D-A32B-08	51773468	151821338	39332938	10	33076											
KIAA0922	23240	broad.mit.edu	37	4	154506755	154506755	+	Missense_Mutation	SNP	A	A	G			TCGA-QH-A6X5-01A-12D-A32B-08	TCGA-QH-A6X5-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03f9927-7659-4b18-ba66-cf2ca08ebca0	a7a5ca94-5e0a-43f3-b61e-705dbfb979d7	g.chr4:154506755A>G	ENST00000409959.3	+	13	1352	c.1303A>G	c.(1303-1305)Atg>Gtg	p.M435V	KIAA0922_ENST00000409663.3_Missense_Mutation_p.M434V|KIAA0922_ENST00000440693.1_Missense_Mutation_p.M435V	NM_001131007.1	NP_001124479.1	A2VDJ0	T131L_HUMAN	KIAA0922	434						integral to membrane				breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	63	all_hematologic(180;0.093)	Renal(120;0.118)				GACCAAGCACATGTTAAAGGT	0.323													24	69					0	0	1	0	0	G	154506755	A	G	154506755	3	3	390	1	0	0	0	0	1	0	0	0	8243	217	8	3	1353	3	KIAA0922	4	154506755	Missense_Mutation	SNP	A	TCGA-QH-A6X5-01A-12D-A32B-08	2685417	154506755	36647521	11	33077											
IPO11	51194	broad.mit.edu	37	5	61785996	61785996	+	Missense_Mutation	SNP	A	A	G			TCGA-QH-A6X5-01A-12D-A32B-08	TCGA-QH-A6X5-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03f9927-7659-4b18-ba66-cf2ca08ebca0	a7a5ca94-5e0a-43f3-b61e-705dbfb979d7	g.chr5:61785996A>G	ENST00000325324.6	+	15	1581	c.1412A>G	c.(1411-1413)gAt>gGt	p.D471G	KIF2A_ENST00000509663.2_Intron|IPO11_ENST00000409296.3_Missense_Mutation_p.D511G	NM_016338.4	NP_057422.3	Q9UI26	IPO11_HUMAN	importin 11	471						cytoplasm|nucleus	protein binding			endometrium(2)|kidney(3)|large_intestine(5)|lung(14)|skin(4)|stomach(2)	30		Lung NSC(810;8.99e-06)|Prostate(74;0.0235)|Ovarian(174;0.0511)|Breast(144;0.077)		Lung(70;0.0613)		GTTGATTTTGATCAGTGGTTT	0.284													12	86					0	0	1	0	0	G	61785996	A	G	61785996	3	3	390	1	0	0	0	0	1	0	0	0	7837	333	12	3	1590	3	IPO11	5	61785996	Missense_Mutation	SNP	A	TCGA-QH-A6X5-01A-12D-A32B-08		61785996	119129264	12	33078											
EPB41L4A	64097	broad.mit.edu	37	5	111594984	111594984	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A6X5-01A-12D-A32B-08	TCGA-QH-A6X5-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03f9927-7659-4b18-ba66-cf2ca08ebca0	a7a5ca94-5e0a-43f3-b61e-705dbfb979d7	g.chr5:111594984C>T	ENST00000261486.5	-	9	1013	c.737G>A	c.(736-738)cGg>cAg	p.R246Q		NM_022140.3	NP_071423	Q9HCS5	E41LA_HUMAN	erythrocyte membrane protein band 4.1 like 4A	246	FERM.					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding	p.R246L(2)|p.R246Q(1)		breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(2)|skin(1)	34		all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135)		OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791)		CTTTGTAATCCGAGGCCTAAA	0.393													8	78					0	0	1	0	0	T	111594984	C	T	111594984	3	4	390	1	0	0	0	0	1	0	0	0	5183	652	23	1	1383	1	EPB41L4A	5	111594984	Missense_Mutation	SNP	C	TCGA-QH-A6X5-01A-12D-A32B-08	49808988	111594984	69320276	13	33079											
GIMAP8	155038	broad.mit.edu	37	7	150174536	150174537	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-QH-A6X5-01A-12D-A32B-08	TCGA-QH-A6X5-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03f9927-7659-4b18-ba66-cf2ca08ebca0	a7a5ca94-5e0a-43f3-b61e-705dbfb979d7	g.chr7:150174536_150174537delTT	ENST00000307271.3	+	5	2240_2241	c.1666_1667delTT	c.(1666-1668)tttfs	p.F556fs		NM_175571.2	NP_783161.1	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	556						endoplasmic reticulum|Golgi apparatus|mitochondrion	GTP binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		TGGAGCAGACTTTACGAAATAC	0.495													15	73	---	---	---	---						-	150174537	TT	-	150174536	7	5	390	1	0	1	0	1	0	0	0	0	6427	1609	56	0	1680	0	GIMAP8	7	150174536	Frame_Shift_Del	DEL	TT	TCGA-QH-A6X5-01A-12D-A32B-08		150174536	8964127	14	33080											
VIPR2	7434	broad.mit.edu	37	7	158823428	158823428	+	Missense_Mutation	SNP	G	G	T			TCGA-QH-A6X5-01A-12D-A32B-08	TCGA-QH-A6X5-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03f9927-7659-4b18-ba66-cf2ca08ebca0	a7a5ca94-5e0a-43f3-b61e-705dbfb979d7	g.chr7:158823428G>T	ENST00000262178.2	-	13	1381	c.1196C>A	c.(1195-1197)gCg>gAg	p.A399E	VIPR2_ENST00000402066.1_Missense_Mutation_p.A540E|VIPR2_ENST00000377633.3_Missense_Mutation_p.A383E	NM_003382.4	NP_003373.2	P41587	VIPR2_HUMAN	vasoactive intestinal peptide receptor 2	399					cell-cell signaling	integral to plasma membrane				central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	22	Ovarian(565;0.152)	all_cancers(7;1.13e-11)|all_epithelial(9;0.000545)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)|STAD - Stomach adenocarcinoma(7;0.18)		ATCCCGGCTCGCGGACGGGGT	0.701													2	3					0.0784	0.0784	1	1	0	T	158823428	G	T	158823428	3	4	390	1	0	0	0	0	1	0	0	0	17230	1087	38	5	124	5	VIPR2	7	158823428	Missense_Mutation	SNP	G	TCGA-QH-A6X5-01A-12D-A32B-08	8648892	158823428	315235	15	33081											
HRCT1	646962	broad.mit.edu	37	9	35906583	35906584	+	In_Frame_Ins	INS	-	-	CCACCA	rs112821450	by1000genomes	TCGA-QH-A6X5-01A-12D-A32B-08	TCGA-QH-A6X5-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03f9927-7659-4b18-ba66-cf2ca08ebca0	a7a5ca94-5e0a-43f3-b61e-705dbfb979d7	g.chr9:35906583_35906584insCCACCA	ENST00000354323.2	+	1	395_396	c.299_300insCCACCA	c.(298-303)ctccac>ctCCACCAccac	p.105_106insHH		NM_001039792.1	NP_001034881.1	Q6UXD1	HRCT1_HUMAN	histidine rich carboxyl terminus 1	105	His-rich.					integral to membrane		p.L100H(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|prostate(1)	4						cctcaccacctccaccaccacc	0.668													4	9	---	---	---	---						CCACCA	35906584	-	CCACCA	35906583	7	5	390	1	0	1	1	0	0	0	0	0	7394	1551	54	0	301	0	HRCT1	9	35906583	In_Frame_Ins	INS	-	TCGA-QH-A6X5-01A-12D-A32B-08		35906583	105306848	16	33082											
CCIN	881	broad.mit.edu	37	9	36170642	36170642	+	Silent	SNP	C	C	T			TCGA-QH-A6X5-01A-12D-A32B-08	TCGA-QH-A6X5-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03f9927-7659-4b18-ba66-cf2ca08ebca0	a7a5ca94-5e0a-43f3-b61e-705dbfb979d7	g.chr9:36170642C>T	ENST00000335119.2	+	1	1254	c.1143C>T	c.(1141-1143)ggC>ggT	p.G381G		NM_005893.2	NP_005884.2	Q13939	CALI_HUMAN	calicin	381					cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton			breast(3)|endometrium(2)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(4)	21			STAD - Stomach adenocarcinoma(86;0.228)			ACTCAGTGGGCGGGAGCATTG	0.562													4	81					0	0	1	0	0	T	36170642	C	T	36170642	2	4	390	1	0	0	0	0	0	0	0	1	2898	755	27	1		1	CCIN	9	36170642	Silent	SNP	C	TCGA-QH-A6X5-01A-12D-A32B-08	264059	36170642	105042789	17	33083											
NPDC1	56654	broad.mit.edu	37	9	139934450	139934450	+	Silent	SNP	C	C	T			TCGA-QH-A6X5-01A-12D-A32B-08	TCGA-QH-A6X5-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03f9927-7659-4b18-ba66-cf2ca08ebca0	a7a5ca94-5e0a-43f3-b61e-705dbfb979d7	g.chr9:139934450C>T	ENST00000371600.3	-	7	1764	c.1092G>A	c.(1090-1092)acG>acA	p.T364T	NPDC1_ENST00000371601.4_Silent_p.T286T			Q9NQX5	NPDC1_HUMAN	neural proliferation, differentiation and control, 1	286						integral to membrane				NS(1)|large_intestine(1)|lung(1)|prostate(1)|urinary_tract(1)	5	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0821)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.96e-05)|Epithelial(140;0.000486)		ACTCGTACACCGTGAAGTCTC	0.672													4	62					0	0	1	0	0	T	139934450	C	T	139934450	2	4	390	1	0	0	0	0	0	0	0	1	10620	639	23	1		1	NPDC1	9	139934450	Silent	SNP	C	TCGA-QH-A6X5-01A-12D-A32B-08	103763808	139934450	1278981	18	33084											
RBM4	5936	broad.mit.edu	37	11	66407646	66407646	+	Missense_Mutation	SNP	A	A	G			TCGA-QH-A6X5-01A-12D-A32B-08	TCGA-QH-A6X5-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03f9927-7659-4b18-ba66-cf2ca08ebca0	a7a5ca94-5e0a-43f3-b61e-705dbfb979d7	g.chr11:66407646A>G	ENST00000483858.1	+	2	531	c.464A>G	c.(463-465)aAt>aGt	p.N155S	RBM4_ENST00000310092.7_Intron|RBM4_ENST00000506523.2_Intron|RBM4_ENST00000578778.1_Intron|RBM14-RBM4_ENST00000412278.2_Intron|RBM4_ENST00000396053.4_Intron|RBM4_ENST00000532968.1_Missense_Mutation_p.N155S|RBM4_ENST00000503028.2_Intron|RBM4_ENST00000408993.2_Intron|RBM14-RBM4_ENST00000500635.2_Intron|RBM4_ENST00000514361.3_Intron|RBM4_ENST00000530235.1_Intron|RBM4_ENST00000409406.1_Intron|RBM4_ENST00000398692.4_Intron					RNA binding motif protein 4											endometrium(3)|large_intestine(4)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13				Lung(977;0.0112)|LUSC - Lung squamous cell carcinoma(976;0.0266)		TGTGCAGAAAATGGTTGGATA	0.468													3	19					0	0	1	0	0	G	66407646	A	G	66407646	3	3	390	1	0	0	0	0	1	0	0	0	13186	116	4	3		3	RBM4	11	66407646	Missense_Mutation	SNP	A	TCGA-QH-A6X5-01A-12D-A32B-08		66407646	68598870	19	33085											
EMG1	10436	broad.mit.edu	37	12	7080210	7080211	+	Splice_Site	INS	-	-	G	rs141646579	by1000genomes	TCGA-QH-A6X5-01A-12D-A32B-08	TCGA-QH-A6X5-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03f9927-7659-4b18-ba66-cf2ca08ebca0	a7a5ca94-5e0a-43f3-b61e-705dbfb979d7	g.chr12:7080210_7080211insG	ENST00000261406.6	+	2	266		c.e2-1		EMG1_ENST00000546220.1_3'UTR	NM_006331.7	NP_006322.4	Q92979	NEP1_HUMAN	EMG1 N1-specific pseudouridine methyltransferase						ribosomal small subunit biogenesis	cytoplasm|nucleolus	rRNA (pseudouridine) methyltransferase activity|rRNA binding										CGGAGGCCGTAGTTTATTGTGG	0.569													4	4	---	---	---	---						G	7080211	-	G	7080210	8	5	390	1	0	1	1	0	0	0	1	0	5118	420	15	0	126	0	EMG1	12	7080210	Splice_Site	INS	-	TCGA-QH-A6X5-01A-12D-A32B-08		7080210	126771685	20	33086											
MAX	4149	broad.mit.edu	37	14	65544747	65544747	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A6X5-01A-12D-A32B-08	TCGA-QH-A6X5-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03f9927-7659-4b18-ba66-cf2ca08ebca0	a7a5ca94-5e0a-43f3-b61e-705dbfb979d7	g.chr14:65544747C>T	ENST00000284165.6	-	4	327	c.179G>A	c.(178-180)cGg>cAg	p.R60Q	MAX_ENST00000358664.4_Missense_Mutation_p.R60Q|MAX_ENST00000556443.1_Missense_Mutation_p.R51Q|MAX_ENST00000557746.1_Missense_Mutation_p.R51Q|MAX_ENST00000341653.2_Intron|MAX_ENST00000358402.4_Missense_Mutation_p.R51Q|MAX_ENST00000556979.1_Missense_Mutation_p.R60Q|MAX_ENST00000557277.1_5'UTR|MAX_ENST00000555419.1_Missense_Mutation_p.R24Q|MAX_ENST00000555667.1_Missense_Mutation_p.R51Q|MAX_ENST00000555932.1_Intron	NM_145113.2	NP_660088.1	P61244	MAX_HUMAN	MYC associated factor X	60	Helix-loop-helix motif.				transcription from RNA polymerase II promoter	cytoplasm|MLL1 complex	sequence-specific DNA binding transcription factor activity|transcription coactivator activity	p.R60Q(5)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	17				all cancers(60;0.000776)|OV - Ovarian serous cystadenocarcinoma(108;0.00359)|BRCA - Breast invasive adenocarcinoma(234;0.00999)		GATTTGGGCCCGGGATGCCTG	0.498													12	53					0	0	1	0	0	T	65544747	C	T	65544747	3	4	390	1	0	0	0	0	1	0	0	0	9389	652	23	1	527	1	MAX	14	65544747	Missense_Mutation	SNP	C	TCGA-QH-A6X5-01A-12D-A32B-08		65544747	41804793	21	33087											
GALC	2581	broad.mit.edu	37	14	88454498	88454498	+	Silent	SNP	C	C	A			TCGA-QH-A6X5-01A-12D-A32B-08	TCGA-QH-A6X5-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03f9927-7659-4b18-ba66-cf2ca08ebca0	a7a5ca94-5e0a-43f3-b61e-705dbfb979d7	g.chr14:88454498C>A	ENST00000261304.2	-	3	424	c.318G>T	c.(316-318)ggG>ggT	p.G106G	GALC_ENST00000393568.4_Silent_p.G83G|GALC_ENST00000554916.1_5'UTR|GALC_ENST00000544807.2_Silent_p.G50G|GALC_ENST00000393569.2_Silent_p.G80G	NM_000153.3|NM_001201401.1	NP_000144.2|NP_001188330.1	P54803	GALC_HUMAN	galactosylceramidase	106					carbohydrate metabolic process|galactosylceramide catabolic process	lysosome	cation binding|galactosylceramidase activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CTGTTGTCTGCCCATCACCAC	0.363													3	46					0.00024832	0.000261054	1	1	0	A	88454498	C	A	88454498	2	1	390	1	0	0	0	0	0	0	0	1	6241	726	26	5		5	GALC	14	88454498	Silent	SNP	C	TCGA-QH-A6X5-01A-12D-A32B-08	22909751	88454498	18895042	22	33088											
FAM83G	644815	broad.mit.edu	37	17	18880902	18880902	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A6X5-01A-12D-A32B-08	TCGA-QH-A6X5-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03f9927-7659-4b18-ba66-cf2ca08ebca0	a7a5ca94-5e0a-43f3-b61e-705dbfb979d7	g.chr17:18880902C>T	ENST00000388995.6	-	5	2300	c.2077G>A	c.(2077-2079)Gca>Aca	p.A693T	SLC5A10_ENST00000395645.3_Intron|SLC5A10_ENST00000317977.6_Intron|FAM83G_ENST00000585154.2_Missense_Mutation_p.A693T|SLC5A10_ENST00000395647.2_Intron|FAM83G_ENST00000345041.4_Missense_Mutation_p.A693T|SLC5A10_ENST00000395642.1_Intron|SLC5A10_ENST00000395643.2_Intron|SLC5A10_ENST00000417251.2_Intron			A6ND36	FA83G_HUMAN	family with sequence similarity 83, member G	693										central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						CCCACCTGTGCCTCCTTGTCT	0.632													17	40					0	0	1	0	0	T	18880902	C	T	18880902	3	4	390	1	0	0	0	0	1	0	0	0	5671	739	26	2	402	2	FAM83G	17	18880902	Missense_Mutation	SNP	C	TCGA-QH-A6X5-01A-12D-A32B-08		18880902	62314308	23	33089											
CDK12	51755	broad.mit.edu	37	17	37672031	37672031	+	Missense_Mutation	SNP	A	A	G			TCGA-QH-A6X5-01A-12D-A32B-08	TCGA-QH-A6X5-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03f9927-7659-4b18-ba66-cf2ca08ebca0	a7a5ca94-5e0a-43f3-b61e-705dbfb979d7	g.chr17:37672031A>G	ENST00000447079.4	+	9	2849	c.2816A>G	c.(2815-2817)aAt>aGt	p.N939S	CDK12_ENST00000430627.2_Missense_Mutation_p.N939S	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	939	Protein kinase.				mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						TTTCAAGCCAATCTGGAACTG	0.403			"Mis, N, F"		serous ovarian					TCGA Ovarian(9;0.13)			6	51					0	0	1	0	0	G	37672031	A	G	37672031	3	3	390	1	0	0	0	0	1	0	0	0	3150	101	4	3	2850	3	CDK12	17	37672031	Missense_Mutation	SNP	A	TCGA-QH-A6X5-01A-12D-A32B-08	18791129	37672031	43523179	24	33090											
KIAA0195	9772	broad.mit.edu	37	17	73487406	73487407	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-QH-A6X5-01A-12D-A32B-08	TCGA-QH-A6X5-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03f9927-7659-4b18-ba66-cf2ca08ebca0	a7a5ca94-5e0a-43f3-b61e-705dbfb979d7	g.chr17:73487406_73487407delAG	ENST00000314256.7	+	13	1650_1651	c.1256_1257delAG	c.(1255-1257)cagfs	p.Q419fs	KIAA0195_ENST00000579208.1_Frame_Shift_Del_p.Q70fs|KIAA0195_ENST00000375248.5_Frame_Shift_Del_p.Q429fs	NM_014738.4	NP_055553.3	Q12767	K0195_HUMAN	KIAA0195	419					ATP biosynthetic process|cation transport	integral to membrane	ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism			breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1)	42	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			GTGGACAAACAGGGGATCCTGT	0.589													14	86	---	---	---	---						-	73487407	AG	-	73487406	7	5	390	1	0	1	0	1	0	0	0	0	8202	188	7	0	1302	0	KIAA0195	17	73487406	Frame_Shift_Del	DEL	AG	TCGA-QH-A6X5-01A-12D-A32B-08	35815375	73487406	7707804	25	33091											
CIC	23152	broad.mit.edu	37	19	42791974	42791974	+	Missense_Mutation	SNP	C	C	G			TCGA-QH-A6X5-01A-12D-A32B-08	TCGA-QH-A6X5-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03f9927-7659-4b18-ba66-cf2ca08ebca0	a7a5ca94-5e0a-43f3-b61e-705dbfb979d7	g.chr19:42791974C>G	ENST00000572681.2	+	7	3573	c.3505C>G	c.(3505-3507)Cac>Gac	p.H1169D	CIC_ENST00000575354.2_Missense_Mutation_p.H260D|CIC_ENST00000160740.3_Missense_Mutation_p.H260D			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	260	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				GAAGGAGGCCCACTTCAAGGC	0.612			"Mis, F, S"		oligodendroglioma								3	7					0	0	1	0	0	G	42791974	C	G	42791974	3	3	390	1	0	0	0	0	1	0	0	0	3446	594	21	5	800	5	CIC	19	42791974	Missense_Mutation	SNP	C	TCGA-QH-A6X5-01A-12D-A32B-08		42791974	16337009	26	33092											
CD3EAP	10849	broad.mit.edu	37	19	45910448	45910448	+	Missense_Mutation	SNP	C	C	A	rs34721735		TCGA-QH-A6X5-01A-12D-A32B-08	TCGA-QH-A6X5-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03f9927-7659-4b18-ba66-cf2ca08ebca0	a7a5ca94-5e0a-43f3-b61e-705dbfb979d7	g.chr19:45910448C>A	ENST00000309424.3	+	2	607	c.119C>A	c.(118-120)aCg>aAg	p.T40K	CD3EAP_ENST00000589804.1_Missense_Mutation_p.T42K	NM_012099.1	NP_036231.1	O15446	RPA34_HUMAN	CD3e molecule, epsilon associated protein	40					rRNA transcription|transmembrane receptor protein tyrosine kinase signaling pathway	chromosome|RNA polymerase I transcription factor complex	DNA-directed RNA polymerase activity			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)		GGTCCAGATACGGAGCTGTGG	0.602													3	60					0.004672	0.0047888	1	1	0	A	45910448	C	A	45910448	3	1	390	1	0	0	0	0	1	0	0	0	3034	536	19	5	125	5	CD3EAP	19	45910448	Missense_Mutation	SNP	C	TCGA-QH-A6X5-01A-12D-A32B-08	3118474	45910448	13218535	27	33093											
LILRB2	10288	broad.mit.edu	37	19	54782291	54782291	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A6X5-01A-12D-A32B-08	TCGA-QH-A6X5-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03f9927-7659-4b18-ba66-cf2ca08ebca0	a7a5ca94-5e0a-43f3-b61e-705dbfb979d7	g.chr19:54782291C>T	ENST00000391748.1	-	7	1208	c.1081G>A	c.(1081-1083)Gca>Aca	p.A361T	LILRB2_ENST00000391746.1_Missense_Mutation_p.A361T|LILRB2_ENST00000391749.4_Missense_Mutation_p.A361T|LILRB2_ENST00000434421.1_Missense_Mutation_p.A245T|LILRB2_ENST00000314446.5_Missense_Mutation_p.A361T	NM_001278403.1	NP_001265332.1	Q8N423	LIRB2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2	361	Ig-like C2-type 4.				cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GCATCAGCTGCTCCCGCCTTG	0.577													5	68					0	0	1	0	0	T	54782291	C	T	54782291	3	4	390	1	0	0	0	0	1	0	0	0	8831	797	28	2	747	2	LILRB2	19	54782291	Missense_Mutation	SNP	C	TCGA-QH-A6X5-01A-12D-A32B-08	8871843	54782291	4346692	28	33094											
P2RY8	286530	broad.mit.edu	37	X	1584769	1584769	+	Missense_Mutation	SNP	C	C	G			TCGA-QH-A6X5-01A-12D-A32B-08	TCGA-QH-A6X5-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03f9927-7659-4b18-ba66-cf2ca08ebca0	a7a5ca94-5e0a-43f3-b61e-705dbfb979d7	g.chrX:1584769C>G	ENST00000381297.4	-	2	893	c.683G>C	c.(682-684)gGc>gCc	p.G228A		NM_178129.4	NP_835230.1	Q86VZ1	P2RY8_HUMAN	purinergic receptor P2Y, G-protein coupled, 8	228						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)	23		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CTGCTCCCGGCCGTGCGCCTC	0.642			T	CRLF2	"B-ALL, Downs associated ALL"								3	24					0	0	1	0	0	G	1584769	C	G	1584769	3	3	390	1	0	0	0	0	1	0	0	0	11402	739	26	5	400	5	P2RY8	23	1584769	Missense_Mutation	SNP	C	TCGA-QH-A6X5-01A-12D-A32B-08		1584769	153685791	29	33095											
GLRA2	2742	broad.mit.edu	37	X	14548194	14548194	+	Silent	SNP	A	A	G			TCGA-QH-A6X5-01A-12D-A32B-08	TCGA-QH-A6X5-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03f9927-7659-4b18-ba66-cf2ca08ebca0	a7a5ca94-5e0a-43f3-b61e-705dbfb979d7	g.chrX:14548194A>G	ENST00000218075.4	+	1	545	c.15A>G	c.(13-15)ctA>ctG	p.L5L	GLRA2_ENST00000355020.4_Silent_p.L5L|GLRA2_ENST00000443437.2_5'UTR	NM_002063.3	NP_002054.1	P23416	GLRA2_HUMAN	glycine receptor, alpha 2	5					neuropeptide signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(22)|ovary(1)|prostate(1)|skin(2)	37	Hepatocellular(33;0.128)				Ethanol(DB00898)|Glycine(DB00145)	ACCGGCAGCTAGTGAACATTT	0.378													14	86					0	0	1	0	0	G	14548194	A	G	14548194	2	3	390	1	0	0	0	0	0	0	0	1	6497	407	15	3		3	GLRA2	23	14548194	Silent	SNP	A	TCGA-QH-A6X5-01A-12D-A32B-08	12963425	14548194	140722366	30	33096											
PDHA1	5160	broad.mit.edu	37	X	19373476	19373476	+	Missense_Mutation	SNP	T	T	A			TCGA-QH-A6X5-01A-12D-A32B-08	TCGA-QH-A6X5-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03f9927-7659-4b18-ba66-cf2ca08ebca0	a7a5ca94-5e0a-43f3-b61e-705dbfb979d7	g.chrX:19373476T>A	ENST00000379806.5	+	8	872	c.727T>A	c.(727-729)Ttc>Atc	p.F243I	PDHA1_ENST00000540249.1_Missense_Mutation_p.F174I|PDHA1_ENST00000545074.1_Missense_Mutation_p.F212I|PDHA1_ENST00000422285.2_Missense_Mutation_p.F205I	NM_001173454.1	NP_001166925.1	P08559	ODPA_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 1	205			Y -> N (in PDHE1 deficiency).		glycolysis|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	protein binding|pyruvate dehydrogenase (acetyl-transferring) activity			endometrium(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)	18	Hepatocellular(33;0.183)				NADH(DB00157)	GGGCCAGATATTCGAAGCTTA	0.463													22	180					0	0	1	0	0	A	19373476	T	A	19373476	3	1	390	1	0	0	0	0	1	0	0	0	11711	1493	52	4	778	4	PDHA1	23	19373476	Missense_Mutation	SNP	T	TCGA-QH-A6X5-01A-12D-A32B-08	4825282	19373476	135897084	31	33097											
KLHL15	80311	broad.mit.edu	37	X	24024162	24024162	+	Missense_Mutation	SNP	T	T	C			TCGA-QH-A6X5-01A-12D-A32B-08	TCGA-QH-A6X5-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03f9927-7659-4b18-ba66-cf2ca08ebca0	a7a5ca94-5e0a-43f3-b61e-705dbfb979d7	g.chrX:24024162T>C	ENST00000328046.8	-	3	904	c.649A>G	c.(649-651)Acc>Gcc	p.T217A		NM_030624.2	NP_085127.2	Q96M94	KLH15_HUMAN	kelch-like family member 15	217	BACK.									autonomic_ganglia(1)|breast(1)|endometrium(8)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)	22						TGAATGATGGTATCGGTATGT	0.448													4	240					0	0	1	0	0	C	24024162	T	C	24024162	3	2	390	1	0	0	0	0	1	0	0	0	8414	1638	57	3	1173	3	KLHL15	23	24024162	Missense_Mutation	SNP	T	TCGA-QH-A6X5-01A-12D-A32B-08	4650686	24024162	131246398	32	33098											
TFE3	7030	broad.mit.edu	37	X	48887951	48887952	+	Frame_Shift_Ins	INS	-	-	C			TCGA-QH-A6X5-01A-12D-A32B-08	TCGA-QH-A6X5-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03f9927-7659-4b18-ba66-cf2ca08ebca0	a7a5ca94-5e0a-43f3-b61e-705dbfb979d7	g.chrX:48887951_48887952insC	ENST00000315869.7	-	10	1704_1705	c.1445_1446insG	c.(1444-1446)ggafs	p.G482fs		NM_006521.4	NP_006512.2	P19532	TFE3_HUMAN	transcription factor binding to IGHM enhancer 3	482					humoral immune response|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding		NONO/TFE3(2)|PRCC/TFE3(25)|SFPQ/TFE3(6)|CLTC/TFE3(2)|ASPSCR1/TFE3(167)	central_nervous_system(1)	1						TCTGGGCAGGTCCCCCCCCTAC	0.649			T	"SFPQ, ASPSCR1, PRCC, NONO, CLTC"	"papillary renal, alveolar soft part sarcoma, renal"								29	98	---	---	---	---						C	48887952	-	C	48887951	7	5	390	1	0	1	1	0	0	0	0	0	15860	1654	58	0	285	0	TFE3	23	48887951	Frame_Shift_Ins	INS	-	TCGA-QH-A6X5-01A-12D-A32B-08	24863789	48887951	106382609	33	33099											
CENPI	2491	broad.mit.edu	37	X	100400090	100400090	+	Missense_Mutation	SNP	A	A	G			TCGA-QH-A6X5-01A-12D-A32B-08	TCGA-QH-A6X5-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03f9927-7659-4b18-ba66-cf2ca08ebca0	a7a5ca94-5e0a-43f3-b61e-705dbfb979d7	g.chrX:100400090A>G	ENST00000372927.1	+	16	1880	c.1603A>G	c.(1603-1605)Aaa>Gaa	p.K535E	CENPI_ENST00000218507.5_Missense_Mutation_p.K535E|CENPI_ENST00000423383.1_Missense_Mutation_p.K535E	NM_006733.2	NP_006724.2	Q92674	CENPI_HUMAN	centromere protein I	535					CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	cytosol|kinetochore|nucleoplasm	protein binding			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(19)|prostate(1)|skin(2)	30						CTCTGTGTCTAAACTGATCCA	0.398													14	105					0	0	1	0	0	G	100400090	A	G	100400090	3	3	390	1	0	0	0	0	1	0	0	0	3255	363	13	3	1661	3	CENPI	23	100400090	Missense_Mutation	SNP	A	TCGA-QH-A6X5-01A-12D-A32B-08	51512139	100400090	54870470	34	33100											
TBC1D8B	54885	broad.mit.edu	37	X	106117115	106117115	+	Frame_Shift_Del	DEL	T	T	-			TCGA-QH-A6X5-01A-12D-A32B-08	TCGA-QH-A6X5-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03f9927-7659-4b18-ba66-cf2ca08ebca0	a7a5ca94-5e0a-43f3-b61e-705dbfb979d7	g.chrX:106117115delT	ENST00000357242.5	+	21	3457	c.3283delT	c.(3283-3285)tttfs	p.F1096fs	TBC1D8B_ENST00000276175.3_Frame_Shift_Del_p.F1090fs	NM_017752.2	NP_060222.2	Q0IIM8	TBC8B_HUMAN	TBC1 domain family, member 8B (with GRAM domain)	1096						intracellular	calcium ion binding|Rab GTPase activator activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						ATTGGTGAGGTTTTTTGAGAA	0.408													15	107	---	---	---	---						-	106117115	T	-	106117115	7	5	390	1	0	1	0	1	0	0	0	0	15686	1725	60	0	3431	0	TBC1D8B	23	106117115	Frame_Shift_Del	DEL	T	TCGA-QH-A6X5-01A-12D-A32B-08	5717025	106117115	49153445	35	33101											
HSPG2	3339	broad.mit.edu	37	1	22172749	22172749	+	Splice_Site	SNP	C	C	T			TCGA-QH-A6X8-01A-12D-A32B-08	TCGA-QH-A6X8-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71e95c57-ab3b-4957-80b4-d09e1dc5bf5b	62e83b8b-1d23-4ca1-8b92-866a07af39fd	g.chr1:22172749C>T	ENST00000374695.3	-	64	8396		c.e64-1		HSPG2_ENST00000430507.1_Splice_Site	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2						angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	AGCCGCGGGTCTGAATAGGGG	0.647													7	6					0	0	1	0	0	T	22172749	C	T	22172749	5	4	391	1	0	0	0	0	0	0	1	0	7474	927	32	2	4995	2	HSPG2	1	22172749	Splice_Site	SNP	C	TCGA-QH-A6X8-01A-12D-A32B-08		22172749	227077872	1	33102											
SPATA17	128153	broad.mit.edu	37	1	217915374	217915374	+	Silent	SNP	C	C	T			TCGA-QH-A6X8-01A-12D-A32B-08	TCGA-QH-A6X8-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71e95c57-ab3b-4957-80b4-d09e1dc5bf5b	62e83b8b-1d23-4ca1-8b92-866a07af39fd	g.chr1:217915374C>T	ENST00000366933.4	+	6	508	c.453C>T	c.(451-453)ctC>ctT	p.L151L		NM_138796.2	NP_620151.1	Q96L03	SPT17_HUMAN	spermatogenesis associated 17	151						cytoplasm	calmodulin binding			endometrium(1)|kidney(1)|large_intestine(9)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(81;0.0516)|all cancers(67;0.0891)|GBM - Glioblastoma multiforme(131;0.117)		AGGCTAACCTCGAAAGGGAAG	0.438													22	39					0	0	1	0	0	T	217915374	C	T	217915374	2	4	391	1	0	0	0	0	0	0	0	1	15058	871	31	1		1	SPATA17	1	217915374	Silent	SNP	C	TCGA-QH-A6X8-01A-12D-A32B-08	195742625	217915374	31335247	2	33103											
NT5C1B	93034	broad.mit.edu	37	2	18765354	18765354	+	Splice_Site	SNP	C	C	A			TCGA-QH-A6X8-01A-12D-A32B-08	TCGA-QH-A6X8-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71e95c57-ab3b-4957-80b4-d09e1dc5bf5b	62e83b8b-1d23-4ca1-8b92-866a07af39fd	g.chr2:18765354C>A	ENST00000304081.4	-	5	991	c.891G>T	c.(889-891)aaG>aaT	p.K297N	NT5C1B_ENST00000359846.2_Splice_Site_p.K357N|NT5C1B_ENST00000600945.1_Splice_Site_p.K357N|NT5C1B-RDH14_ENST00000532967.1_Splice_Site_p.K357N	NM_033253.3	NP_150278.2			5'-nucleotidase, cytosolic IB											endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)	Ovarian(717;0.208)				TGCAGAATACCTTGACGAAGC	0.562													30	41					8.4185e-14	9.18382e-14	1	1	0	A	18765354	C	A	18765354	5	1	391	1	0	0	0	0	0	0	1	0	10734	695	24	4	781	4	NT5C1B	2	18765354	Splice_Site	SNP	C	TCGA-QH-A6X8-01A-12D-A32B-08		18765354	224434019	3	33104											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-QH-A6X8-01A-12D-A32B-08	TCGA-QH-A6X8-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71e95c57-ab3b-4957-80b4-d09e1dc5bf5b	62e83b8b-1d23-4ca1-8b92-866a07af39fd	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								18	33					0	0	1	0	0	T	209113112	C	T	209113112	3	4	391	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-QH-A6X8-01A-12D-A32B-08	190347758	209113112	34086261	4	33105											
TIGIT	201633	broad.mit.edu	37	3	114014419	114014419	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A6X8-01A-12D-A32B-08	TCGA-QH-A6X8-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71e95c57-ab3b-4957-80b4-d09e1dc5bf5b	62e83b8b-1d23-4ca1-8b92-866a07af39fd	g.chr3:114014419C>T	ENST00000481065.1	+	3	2905	c.290C>T	c.(289-291)aCg>aTg	p.T97M	TIGIT_ENST00000486257.1_Missense_Mutation_p.T30M|TIGIT_ENST00000383671.3_Missense_Mutation_p.T30M			Q495A1	TIGIT_HUMAN	T cell immunoreceptor with Ig and ITIM domains	30	Ig-like V-type.				negative regulation of interleukin-12 production|negative regulation of T cell activation|positive regulation of interleukin-10 production	cell surface|integral to membrane|plasma membrane	protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|prostate(1)	17						ATAGAAACAACGGGGAACATT	0.502													11	166					0	0	1	0	0	T	114014419	C	T	114014419	3	4	391	1	0	0	0	0	1	0	0	0	15962	536	19	1	95	1	TIGIT	3	114014419	Missense_Mutation	SNP	C	TCGA-QH-A6X8-01A-12D-A32B-08		114014419	84008011	5	33106											
PLXNA1	5361	broad.mit.edu	37	3	126708285	126708285	+	Silent	SNP	G	G	A			TCGA-QH-A6X8-01A-12D-A32B-08	TCGA-QH-A6X8-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71e95c57-ab3b-4957-80b4-d09e1dc5bf5b	62e83b8b-1d23-4ca1-8b92-866a07af39fd	g.chr3:126708285G>A	ENST00000393409.2	+	1	849	c.849G>A	c.(847-849)gtG>gtA	p.V283V	PLXNA1_ENST00000251772.4_Silent_p.V260V	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	283	Sema.				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		CCAAGATCGTGCGGCTCTGTG	0.602													11	201					0	0	1	0	0	A	126708285	G	A	126708285	2	1	391	1	0	0	0	0	0	0	0	1	12167	1306	46	2		2	PLXNA1	3	126708285	Silent	SNP	G	TCGA-QH-A6X8-01A-12D-A32B-08	12693866	126708285	71314145	6	33107											
DCHS2	54798	broad.mit.edu	37	4	155236942	155236942	+	Missense_Mutation	SNP	C	C	G			TCGA-QH-A6X8-01A-12D-A32B-08	TCGA-QH-A6X8-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71e95c57-ab3b-4957-80b4-d09e1dc5bf5b	62e83b8b-1d23-4ca1-8b92-866a07af39fd	g.chr4:155236942C>G	ENST00000357232.4	-	15	3852	c.3853G>C	c.(3853-3855)Ggg>Cgg	p.G1285R		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2		Cadherin 11.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		ACAAACTCCCCTGGATTTTGG	0.368													3	61					0	0	1	0	0	G	155236942	C	G	155236942	3	3	391	1	0	0	0	0	1	0	0	0	4311	681	24	4	4941	4	DCHS2	4	155236942	Missense_Mutation	SNP	C	TCGA-QH-A6X8-01A-12D-A32B-08		155236942	35917334	7	33108											
PIK3R1	5295	broad.mit.edu	37	5	67589623	67589634	+	In_Frame_Del	DEL	ATATGATAGATT	ATATGATAGATT	-			TCGA-QH-A6X8-01A-12D-A32B-08	TCGA-QH-A6X8-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71e95c57-ab3b-4957-80b4-d09e1dc5bf5b	62e83b8b-1d23-4ca1-8b92-866a07af39fd	g.chr5:67589623_67589634delATATGATAGATT	ENST00000521381.1	+	11	2002_2013	c.1386_1397delATATGATAGATT	c.(1384-1398)gaatatgatagatta>gaa	p.YDRL463del	PIK3R1_ENST00000274335.5_In_Frame_Del_p.YDRL463del|PIK3R1_ENST00000396611.1_In_Frame_Del_p.YDRL463del|PIK3R1_ENST00000523872.1_In_Frame_Del_p.YDRL100del|PIK3R1_ENST00000521657.1_In_Frame_Del_p.YDRL463del|PIK3R1_ENST00000320694.8_In_Frame_Del_p.YDRL163del|PIK3R1_ENST00000336483.5_In_Frame_Del_p.YDRL193del	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	463					epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.D464fs*2(1)|p.Y193C(1)|p.0?(1)|p.?(1)|p.D464H(1)|p.Y463fs*1(1)|p.E462_R465delEYDR(1)|p.Y463C(1)|p.Y463_L466del(1)|p.T454_D464del(1)|p.Y163C(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	AAAGTCGAGAATATGATAGATTATATGAAGAA	0.283			"Mis, F, O"		"gliobastoma, ovarian, colorectal"					TCGA GBM(4;<1E-08)			11	25	---	---	---	---						-	67589634	ATATGATAGATT	-	67589623	7	5	391	1	0	1	0	1	0	0	0	0	11966	98	4	0	1554	0	PIK3R1	5	67589623	In_Frame_Del	DEL	ATATGATAGATT	TCGA-QH-A6X8-01A-12D-A32B-08		67589623	113325637	8	33109											
KDM3B	51780	broad.mit.edu	37	5	137727662	137727662	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A6X8-01A-12D-A32B-08	TCGA-QH-A6X8-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71e95c57-ab3b-4957-80b4-d09e1dc5bf5b	62e83b8b-1d23-4ca1-8b92-866a07af39fd	g.chr5:137727662G>A	ENST00000314358.5	+	8	2541	c.2341G>A	c.(2341-2343)Gca>Aca	p.A781T	KDM3B_ENST00000394866.1_Missense_Mutation_p.A437T|KDM3B_ENST00000542866.1_Intron	NM_016604.3	NP_057688	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	781					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						GTCCTCCCCGGCAGATTTTTC	0.537													5	346					0	0	1	0	0	A	137727662	G	A	137727662	3	1	391	1	0	0	0	0	1	0	0	0	8171	1203	42	2	2371	2	KDM3B	5	137727662	Missense_Mutation	SNP	G	TCGA-QH-A6X8-01A-12D-A32B-08	70138039	137727662	43187598	9	33110											
PCDHB1	29930	broad.mit.edu	37	5	140432022	140432022	+	Missense_Mutation	SNP	G	G	C			TCGA-QH-A6X8-01A-12D-A32B-08	TCGA-QH-A6X8-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71e95c57-ab3b-4957-80b4-d09e1dc5bf5b	62e83b8b-1d23-4ca1-8b92-866a07af39fd	g.chr5:140432022G>C	ENST00000306549.3	+	1	1044	c.967G>C	c.(967-969)Gat>Cat	p.D323H		NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN		323	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCAAGCTACAGATGGTGGAGG	0.488													4	99					0	0	1	0	0	C	140432022	G	C	140432022	3	2	391	1	0	0	0	0	1	0	0	0	11581	942	33	4	969	4	PCDHB1	5	140432022	Missense_Mutation	SNP	G	TCGA-QH-A6X8-01A-12D-A32B-08	2704360	140432022	40483238	10	33111											
DSP	1832	broad.mit.edu	37	6	7580378	7580378	+	Missense_Mutation	SNP	A	A	G			TCGA-QH-A6X8-01A-12D-A32B-08	TCGA-QH-A6X8-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71e95c57-ab3b-4957-80b4-d09e1dc5bf5b	62e83b8b-1d23-4ca1-8b92-866a07af39fd	g.chr6:7580378A>G	ENST00000379802.3	+	23	4296	c.3955A>G	c.(3955-3957)Acc>Gcc	p.T1319A	DSP_ENST00000418664.2_Intron	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	1319	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		GGCTGCCAAGACCATTCAGGA	0.517													4	107					0	0	1	0	0	G	7580378	A	G	7580378	3	3	391	1	0	0	0	0	1	0	0	0	4807	275	10	3	4045	3	DSP	6	7580378	Missense_Mutation	SNP	A	TCGA-QH-A6X8-01A-12D-A32B-08		7580378	163534689	11	33112											
DNAH8	1769	broad.mit.edu	37	6	38897333	38897333	+	Missense_Mutation	SNP	G	G	C			TCGA-QH-A6X8-01A-12D-A32B-08	TCGA-QH-A6X8-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71e95c57-ab3b-4957-80b4-d09e1dc5bf5b	62e83b8b-1d23-4ca1-8b92-866a07af39fd	g.chr6:38897333G>C	ENST00000359357.3	+	73	10768	c.10514G>C	c.(10513-10515)aGc>aCc	p.S3505T	RP1-207H1.3_ENST00000418399.1_RNA|RP1-207H1.3_ENST00000416948.1_RNA|DNAH8_ENST00000441566.1_Missense_Mutation_p.S3469T|RP1-207H1.3_ENST00000453417.1_RNA|DNAH8_ENST00000449981.2_Missense_Mutation_p.S3722T					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TTGGAGGACAGCCTTTCCTTG	0.418													10	130					0	0	1	0	0	C	38897333	G	C	38897333	3	2	391	1	0	0	0	0	1	0	0	0	4634	971	34	4	10796	4	DNAH8	6	38897333	Missense_Mutation	SNP	G	TCGA-QH-A6X8-01A-12D-A32B-08	31316955	38897333	132217734	12	33113											
MDFI	4188	broad.mit.edu	37	6	41621201	41621201	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A6X8-01A-12D-A32B-08	TCGA-QH-A6X8-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71e95c57-ab3b-4957-80b4-d09e1dc5bf5b	62e83b8b-1d23-4ca1-8b92-866a07af39fd	g.chr6:41621201C>T	ENST00000373050.4	+	4	633	c.446C>T	c.(445-447)gCc>gTc	p.A149V				Q99750	MDFI_HUMAN	MyoD family inhibitor	210					cytoplasmic sequestering of transcription factor|dorsal/ventral axis specification|negative regulation of DNA binding|negative regulation of transcription from RNA polymerase II promoter|negative regulation of Wnt receptor signaling pathway	cytoplasm|nucleus				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|prostate(2)|skin(1)|urinary_tract(1)	8	Ovarian(28;0.0327)|Colorectal(47;0.121)		Colorectal(64;0.0123)|COAD - Colon adenocarcinoma(64;0.0264)|KIRC - Kidney renal clear cell carcinoma(1;0.138)			GGCGAGTGTGCCGACTGCGAC	0.662													4	99					0	0	1	0	0	T	41621201	C	T	41621201	3	4	391	1	0	0	0	0	1	0	0	0	9454	739	26	2	643	2	MDFI	6	41621201	Missense_Mutation	SNP	C	TCGA-QH-A6X8-01A-12D-A32B-08	2723868	41621201	129493866	13	33114											
SUPT3H	8464	broad.mit.edu	37	6	45289563	45289563	+	Frame_Shift_Del	DEL	T	T	-			TCGA-QH-A6X8-01A-12D-A32B-08	TCGA-QH-A6X8-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71e95c57-ab3b-4957-80b4-d09e1dc5bf5b	62e83b8b-1d23-4ca1-8b92-866a07af39fd	g.chr6:45289563delT	ENST00000371460.1	-	4	421	c.104delA	c.(103-105)aatfs	p.N35fs	SUPT3H_ENST00000459689.1_Intron|SUPT3H_ENST00000306867.5_Intron|SUPT3H_ENST00000371459.1_Intron|SUPT3H_ENST00000371461.2_Frame_Shift_Del_p.N35fs	NM_181356.2	NP_852001.1	O75486	SUPT3_HUMAN	suppressor of Ty 3 homolog (S. cerevisiae)	346					histone deubiquitination|histone H3 acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	STAGA complex|transcription factor TFTC complex	DNA binding|transcription coactivator activity			breast(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)	12						TGGAAGGATATTGTGATAACA	0.343													2	4	---	---	---	---						-	45289563	T	-	45289563	7	5	391	1	0	1	0	1	0	0	0	0	15453	1493	52	0	922	0	SUPT3H	6	45289563	Frame_Shift_Del	DEL	T	TCGA-QH-A6X8-01A-12D-A32B-08	3668362	45289563	125825504	14	33115											
FAM83B	222584	broad.mit.edu	37	6	54805863	54805863	+	Silent	SNP	G	G	A			TCGA-QH-A6X8-01A-12D-A32B-08	TCGA-QH-A6X8-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71e95c57-ab3b-4957-80b4-d09e1dc5bf5b	62e83b8b-1d23-4ca1-8b92-866a07af39fd	g.chr6:54805863G>A	ENST00000306858.7	+	5	2210	c.2094G>A	c.(2092-2094)aaG>aaA	p.K698K		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	698								p.K698N(1)		autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					AACCAGAAAAGCCCAAAGAAG	0.393													19	40					0	0	1	0	0	A	54805863	G	A	54805863	2	1	391	1	0	0	0	0	0	0	0	1	5666	962	34	2		2	FAM83B	6	54805863	Silent	SNP	G	TCGA-QH-A6X8-01A-12D-A32B-08	9516300	54805863	116309204	15	33116											
COL12A1	1303	broad.mit.edu	37	6	75899313	75899313	+	Missense_Mutation	SNP	C	C	G			TCGA-QH-A6X8-01A-12D-A32B-08	TCGA-QH-A6X8-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71e95c57-ab3b-4957-80b4-d09e1dc5bf5b	62e83b8b-1d23-4ca1-8b92-866a07af39fd	g.chr6:75899313C>G	ENST00000322507.8	-	6	922	c.613G>C	c.(613-615)Gct>Cct	p.A205P	COL12A1_ENST00000416123.2_Missense_Mutation_p.A205P|COL12A1_ENST00000483888.2_Missense_Mutation_p.A205P|COL12A1_ENST00000345356.6_Intron	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	205	VWFA 1.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						TTTATTGCAGCAAGAAGTTCA	0.333													34	84					0	0	1	0	0	G	75899313	C	G	75899313	3	3	391	1	0	0	0	0	1	0	0	0	3692	710	25	5	8822	5	COL12A1	6	75899313	Missense_Mutation	SNP	C	TCGA-QH-A6X8-01A-12D-A32B-08	21093450	75899313	95215754	16	33117											
RADIL	55698	broad.mit.edu	37	7	4843373	4843373	+	Frame_Shift_Del	DEL	T	T	-			TCGA-QH-A6X8-01A-12D-A32B-08	TCGA-QH-A6X8-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71e95c57-ab3b-4957-80b4-d09e1dc5bf5b	62e83b8b-1d23-4ca1-8b92-866a07af39fd	g.chr7:4843373delT	ENST00000399583.3	-	11	2490	c.2303delA	c.(2302-2304)gagfs	p.E768fs	RADIL_ENST00000538469.1_Frame_Shift_Del_p.E528fs|RADIL_ENST00000536091.1_3'UTR	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN	Ras association and DIL domains	768					cell adhesion|multicellular organismal development|signal transduction		protein binding			NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		TTCGTAGGACTCCAGAACATC	0.642													2	4	---	---	---	---						-	4843373	T	-	4843373	7	5	391	1	0	1	0	1	0	0	0	0	13049	1551	54	0	944	0	RADIL	7	4843373	Frame_Shift_Del	DEL	T	TCGA-QH-A6X8-01A-12D-A32B-08		4843373	154295290	17	33118											
KDELR2	11014	broad.mit.edu	37	7	6505724	6505724	+	Silent	SNP	G	G	A			TCGA-QH-A6X8-01A-12D-A32B-08	TCGA-QH-A6X8-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71e95c57-ab3b-4957-80b4-d09e1dc5bf5b	62e83b8b-1d23-4ca1-8b92-866a07af39fd	g.chr7:6505724G>A	ENST00000258739.4	-	4	766	c.582C>T	c.(580-582)ttC>ttT	p.F194F	KDELR2_ENST00000490996.1_Intron|DAGLB_ENST00000436575.1_Intron|KDELR2_ENST00000463747.1_Intron	NM_006854.3	NP_006845.1	P33947	ERD22_HUMAN	KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 2	194					intracellular protein transport|protein retention in ER lumen|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi apparatus|integral to membrane	KDEL sequence binding|protein binding|receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(1)	10		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)		ACAAGTAGAAGAAGTCACAGT	0.478													22	45					0	0	1	0	0	A	6505724	G	A	6505724	2	1	391	1	0	0	0	0	0	0	0	1	8164	933	33	2		2	KDELR2	7	6505724	Silent	SNP	G	TCGA-QH-A6X8-01A-12D-A32B-08	1662351	6505724	152632939	18	33119											
CALN1	83698	broad.mit.edu	37	7	71252776	71252776	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A6X8-01A-12D-A32B-08	TCGA-QH-A6X8-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71e95c57-ab3b-4957-80b4-d09e1dc5bf5b	62e83b8b-1d23-4ca1-8b92-866a07af39fd	g.chr7:71252776C>T	ENST00000395275.2	-	7	1158	c.770G>A	c.(769-771)cGg>cAg	p.R257Q	CALN1_ENST00000405452.2_Missense_Mutation_p.R215Q|CALN1_ENST00000395276.2_Missense_Mutation_p.R215Q|CALN1_ENST00000329008.5_Missense_Mutation_p.R215Q|CALN1_ENST00000431984.1_Missense_Mutation_p.R215Q|CALN1_ENST00000412588.1_Missense_Mutation_p.R257Q	NM_031468.3	NP_113656.2	Q9BXU9	CABP8_HUMAN	calneuron 1	215						Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane	calcium ion binding			biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(6)|lung(19)|skin(2)	32		all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161)				CATGCCGCTCCGGAGTATCTG	0.582													15	11					0	0	1	0	0	T	71252776	C	T	71252776	3	4	391	1	0	0	0	0	1	0	0	0	2609	652	23	1	19	1	CALN1	7	71252776	Missense_Mutation	SNP	C	TCGA-QH-A6X8-01A-12D-A32B-08	64747052	71252776	87885887	19	33120											
UBN2	254048	broad.mit.edu	37	7	138968722	138968722	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A6X8-01A-12D-A32B-08	TCGA-QH-A6X8-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71e95c57-ab3b-4957-80b4-d09e1dc5bf5b	62e83b8b-1d23-4ca1-8b92-866a07af39fd	g.chr7:138968722C>T	ENST00000473989.3	+	15	3071	c.3071C>T	c.(3070-3072)aCg>aTg	p.T1024M	UBN2_ENST00000288561.8_Missense_Mutation_p.T941M	NM_173569.3	NP_775840.3	Q6ZU65	UBN2_HUMAN	ubinuclein 2		Ser-rich.									NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						CAGATCTCCACGCAGGGTTTC	0.542													26	26					0	0	1	0	0	T	138968722	C	T	138968722	3	4	391	1	0	0	0	0	1	0	0	0	16954	536	19	1	3129	1	UBN2	7	138968722	Missense_Mutation	SNP	C	TCGA-QH-A6X8-01A-12D-A32B-08	67715946	138968722	20169941	20	33121											
BLK	640	broad.mit.edu	37	8	11400821	11400821	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A6X8-01A-12D-A32B-08	TCGA-QH-A6X8-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71e95c57-ab3b-4957-80b4-d09e1dc5bf5b	62e83b8b-1d23-4ca1-8b92-866a07af39fd	g.chr8:11400821G>A	ENST00000259089.4	+	2	680	c.88G>A	c.(88-90)Gcc>Acc	p.A30T	BLK_ENST00000529894.1_Intron	NM_001715.2	NP_001706.2	P51451	BLK_HUMAN	B lymphoid tyrosine kinase	30					intracellular protein kinase cascade|positive regulation of insulin secretion		ATP binding|non-membrane spanning protein tyrosine kinase activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(4)|stomach(1)	27			STAD - Stomach adenocarcinoma(15;0.00391)	COAD - Colon adenocarcinoma(149;0.207)		GAAGGTCAGCGCCCAAGACAA	0.562													21	25					0	0	1	0	0	A	11400821	G	A	11400821	3	1	391	1	0	0	0	0	1	0	0	0	1443	1087	38	1	90	1	BLK	8	11400821	Missense_Mutation	SNP	G	TCGA-QH-A6X8-01A-12D-A32B-08		11400821	134963201	21	33122											
WRN	7486	broad.mit.edu	37	8	30945377	30945379	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-QH-A6X8-01A-12D-A32B-08	TCGA-QH-A6X8-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71e95c57-ab3b-4957-80b4-d09e1dc5bf5b	62e83b8b-1d23-4ca1-8b92-866a07af39fd	g.chr8:30945377_30945379delAAG	ENST00000298139.5	+	12	1766_1768	c.1517_1519delAAG	c.(1516-1521)aaagaa>aaa	p.E510del		NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like	510	Poly-Glu.				base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding			central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		CTTCCTACTAaagaagaagaaga	0.36			"Mis, N, F, S"			"osteosarcoma, meningioma, others"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome				7	95	---	---	---	---						-	30945379	AAG	-	30945377	7	5	391	1	0	1	0	1	0	0	0	0	17462	14	1	0	1559	0	WRN	8	30945377	In_Frame_Del	DEL	AAG	TCGA-QH-A6X8-01A-12D-A32B-08	19544556	30945377	115418645	22	33123											
NBN	4683	broad.mit.edu	37	8	90967619	90967619	+	Missense_Mutation	SNP	T	T	C			TCGA-QH-A6X8-01A-12D-A32B-08	TCGA-QH-A6X8-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71e95c57-ab3b-4957-80b4-d09e1dc5bf5b	62e83b8b-1d23-4ca1-8b92-866a07af39fd	g.chr8:90967619T>C	ENST00000265433.3	-	10	1443	c.1289A>G	c.(1288-1290)cAg>cGg	p.Q430R	NBN_ENST00000409330.1_Missense_Mutation_p.Q348R	NM_002485.4	NP_002476.2	O60934	NBN_HUMAN	nibrin	430					cell cycle arrest|DNA damage response, signal transduction by p53 class mediator|DNA duplex unwinding|double-strand break repair via homologous recombination|meiosis|mitotic cell cycle G1/S transition checkpoint|mitotic cell cycle G2/M transition DNA damage checkpoint|positive regulation of kinase activity|positive regulation of protein autophosphorylation|regulation of DNA-dependent DNA replication initiation|telomere maintenance	Mre11 complex|nuclear chromosome, telomeric region|nuclear inclusion body|nucleolus|nucleoplasm	protein N-terminus binding|transcription factor binding			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(11;0.0344)			TGGTGAAAGCTGATAGTTTGG	0.393								Homologous recombination					34	94					0	0	1	0	0	C	90967619	T	C	90967619	3	2	391	1	0	0	0	0	1	0	0	0	10239	1580	55	3	1003	3	NBN	8	90967619	Missense_Mutation	SNP	T	TCGA-QH-A6X8-01A-12D-A32B-08	60022242	90967619	55396403	23	33124											
ZMIZ1	57178	broad.mit.edu	37	10	81070787	81070789	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-QH-A6X8-01A-12D-A32B-08	TCGA-QH-A6X8-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71e95c57-ab3b-4957-80b4-d09e1dc5bf5b	62e83b8b-1d23-4ca1-8b92-866a07af39fd	g.chr10:81070787_81070789delCTC	ENST00000334512.5	+	24	3514_3516	c.2942_2944delCTC	c.(2941-2946)gctcct>gct	p.P986del	ZMIZ1_ENST00000446377.2_Intron	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	986	Pro-rich.				transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			CACAGTGGGGCTCCTCCTCCTCC	0.635													10	168	---	---	---	---						-	81070789	CTC	-	81070787	7	5	391	1	0	1	0	1	0	0	0	0	17754	797	28	0	3020	0	ZMIZ1	10	81070787	In_Frame_Del	DEL	CTC	TCGA-QH-A6X8-01A-12D-A32B-08		81070787	54463960	24	33125											
AGAP11	119385	broad.mit.edu	37	10	88753182	88753182	+	RNA	SNP	G	G	A	rs146841657	by1000genomes	TCGA-QH-A6X8-01A-12D-A32B-08	TCGA-QH-A6X8-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71e95c57-ab3b-4957-80b4-d09e1dc5bf5b	62e83b8b-1d23-4ca1-8b92-866a07af39fd	g.chr10:88753182G>A	ENST00000444431.1	+	0	128				RP11-96C23.5_ENST00000433214.2_RNA			Q8TF27	AGA11_HUMAN	ankyrin repeat and GTPase domain Arf GTPase activating protein 11						regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding										CACTAGAGCCGCCACCAATAG	0.408													48	48					0	0	1	0	0	A	88753182	G	A	88753182	1	1	391	0	1	0	0	0	0	0	0	0	366	1102	38	1		1	AGAP11	10	88753182	RNA	SNP	G	TCGA-QH-A6X8-01A-12D-A32B-08	7682395	88753182	46781565	25	33126											
PIK3C2A	5286	broad.mit.edu	37	11	17156657	17156657	+	Splice_Site	SNP	C	C	T			TCGA-QH-A6X8-01A-12D-A32B-08	TCGA-QH-A6X8-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71e95c57-ab3b-4957-80b4-d09e1dc5bf5b	62e83b8b-1d23-4ca1-8b92-866a07af39fd	g.chr11:17156657C>T	ENST00000265970.7	-	9	1897		c.e9+1		PIK3C2A_ENST00000540361.1_Splice_Site|PIK3C2A_ENST00000531428.1_Intron	NM_002645.2	NP_002636.2	O00443	P3C2A_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha						cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling	clathrin-coated vesicle|Golgi apparatus|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58					Phosphatidylserine(DB00144)	TAAACACATACCCCTAGTTGA	0.343													114	34					0	0	1	0	0	T	17156657	C	T	17156657	5	4	391	1	0	0	0	0	0	0	1	0	11957	521	18	2	3258	2	PIK3C2A	11	17156657	Splice_Site	SNP	C	TCGA-QH-A6X8-01A-12D-A32B-08		17156657	117849859	26	33127											
CCND1	595	broad.mit.edu	37	11	69465895	69465895	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A6X8-01A-12D-A32B-08	TCGA-QH-A6X8-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71e95c57-ab3b-4957-80b4-d09e1dc5bf5b	62e83b8b-1d23-4ca1-8b92-866a07af39fd	g.chr11:69465895C>T	ENST00000227507.2	+	5	960	c.733C>T	c.(733-735)Cgg>Tgg	p.R245W		NM_053056.2	NP_444284.1	P24385	CCND1_HUMAN	cyclin D1	245					cell division|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|mitotic cell cycle G1/S transition DNA damage checkpoint|positive regulation of cyclin-dependent protein kinase activity|positive regulation of protein phosphorylation|response to drug|response to UV-A|S phase of mitotic cell cycle	cyclin-dependent protein kinase holoenzyme complex|cytosol|membrane|nucleoplasm	protein kinase binding			NS(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|ovary(1)|urinary_tract(1)	23	all_cancers(3;2.01e-114)|all_epithelial(3;3.59e-122)|Breast(3;5.4e-34)|all_lung(4;1.99e-21)|Lung NSC(4;4.65e-21)|Hepatocellular(3;8.22e-16)|Melanoma(5;1.89e-05)|Ovarian(3;0.0348)		Epithelial(3;7.2e-57)|all cancers(3;7.75e-51)|BRCA - Breast invasive adenocarcinoma(2;4.9e-48)|Lung(3;1.13e-16)|LUSC - Lung squamous cell carcinoma(11;3.74e-15)|STAD - Stomach adenocarcinoma(18;0.0278)|LUAD - Lung adenocarcinoma(13;0.0537)		Arsenic trioxide(DB01169)	GGACTGCCTCCGGGCCTGCCA	0.667			T	"IGH@, FSTL3"	"CLL, B-ALL, breast"					Multiple Myeloma(6;0.086)			11	17					0	0	1	0	0	T	69465895	C	T	69465895	3	4	391	1	0	0	0	0	1	0	0	0	2938	643	23	1	751	1	CCND1	11	69465895	Missense_Mutation	SNP	C	TCGA-QH-A6X8-01A-12D-A32B-08	52309238	69465895	65540621	27	33128											
NCAPD3	23310	broad.mit.edu	37	11	134054559	134054559	+	Silent	SNP	T	T	C			TCGA-QH-A6X8-01A-12D-A32B-08	TCGA-QH-A6X8-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71e95c57-ab3b-4957-80b4-d09e1dc5bf5b	62e83b8b-1d23-4ca1-8b92-866a07af39fd	g.chr11:134054559T>C	ENST00000534548.2	-	19	2488	c.2424A>G	c.(2422-2424)gcA>gcG	p.A808A	RP11-700F16.3_ENST00000531710.1_RNA	NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	808					cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		TCTCTGCAGATGCTCTACAAA	0.463													24	29					0	0	1	0	0	C	134054559	T	C	134054559	2	2	391	1	0	0	0	0	0	0	0	1	10253	1451	51	3		3	NCAPD3	11	134054559	Silent	SNP	T	TCGA-QH-A6X8-01A-12D-A32B-08	64588664	134054559	951957	28	33129											
EMG1	10436	broad.mit.edu	37	12	7080210	7080211	+	Splice_Site	INS	-	-	G	rs141646579	by1000genomes	TCGA-QH-A6X8-01A-12D-A32B-08	TCGA-QH-A6X8-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71e95c57-ab3b-4957-80b4-d09e1dc5bf5b	62e83b8b-1d23-4ca1-8b92-866a07af39fd	g.chr12:7080210_7080211insG	ENST00000261406.6	+	2	266		c.e2-1		EMG1_ENST00000546220.1_3'UTR	NM_006331.7	NP_006322.4	Q92979	NEP1_HUMAN	EMG1 N1-specific pseudouridine methyltransferase						ribosomal small subunit biogenesis	cytoplasm|nucleolus	rRNA (pseudouridine) methyltransferase activity|rRNA binding										CGGAGGCCGTAGTTTATTGTGG	0.569													5	11	---	---	---	---						G	7080211	-	G	7080210	8	5	391	1	0	1	1	0	0	0	1	0	5118	420	15	0	126	0	EMG1	12	7080210	Splice_Site	INS	-	TCGA-QH-A6X8-01A-12D-A32B-08		7080210	126771685	29	33130											
KRT73	319101	broad.mit.edu	37	12	53012113	53012113	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A6X8-01A-12D-A32B-08	TCGA-QH-A6X8-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71e95c57-ab3b-4957-80b4-d09e1dc5bf5b	62e83b8b-1d23-4ca1-8b92-866a07af39fd	g.chr12:53012113C>T	ENST00000305748.3	-	1	230	c.196G>A	c.(196-198)Ggg>Agg	p.G66R		NM_175068.2	NP_778238.1	Q86Y46	K2C73_HUMAN	keratin 73	66	Gly-rich.|Head.					keratin filament	structural molecule activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.189)		CCTGCCCACCCACTGCCACTG	0.642													62	113					0	0	1	0	0	T	53012113	C	T	53012113	3	4	391	1	0	0	0	0	1	0	0	0	8529	594	21	2	1462	2	KRT73	12	53012113	Missense_Mutation	SNP	C	TCGA-QH-A6X8-01A-12D-A32B-08	45931903	53012113	80839782	30	33131											
MYH7	4625	broad.mit.edu	37	14	23898247	23898247	+	Missense_Mutation	SNP	G	G	A	rs148808089		TCGA-QH-A6X8-01A-12D-A32B-08	TCGA-QH-A6X8-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71e95c57-ab3b-4957-80b4-d09e1dc5bf5b	62e83b8b-1d23-4ca1-8b92-866a07af39fd	g.chr14:23898247G>A	ENST00000355349.3	-	14	1486	c.1324C>T	c.(1324-1326)Cgc>Tgc	p.R442C		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	442	Myosin head-like.				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		GCATTGATGCGCGTCACCATC	0.557													27	61					0	0	1	0	0	A	23898247	G	A	23898247	3	1	391	1	0	0	0	0	1	0	0	0	10087	1087	38	1	4591	1	MYH7	14	23898247	Missense_Mutation	SNP	G	TCGA-QH-A6X8-01A-12D-A32B-08		23898247	83451293	31	33132											
ARNT2	9915	broad.mit.edu	37	15	80767431	80767431	+	Silent	SNP	G	G	T			TCGA-QH-A6X8-01A-12D-A32B-08	TCGA-QH-A6X8-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71e95c57-ab3b-4957-80b4-d09e1dc5bf5b	62e83b8b-1d23-4ca1-8b92-866a07af39fd	g.chr15:80767431G>T	ENST00000533983.1	+	6	795	c.456G>T	c.(454-456)gtG>gtT	p.V152V	ARNT2_ENST00000303329.4_Silent_p.V163V|ARNT2_ENST00000531595.3_3'UTR|ARNT2_ENST00000527771.1_Silent_p.V152V			Q9HBZ2	ARNT2_HUMAN	aryl-hydrocarbon receptor nuclear translocator 2	163	PAS 1.				central nervous system development|in utero embryonic development|response to hypoxia		aryl hydrocarbon receptor binding|DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|pancreas(2)|prostate(2)|skin(1)	35			BRCA - Breast invasive adenocarcinoma(143;0.134)			TGATTTATGTGTCTGACTCCG	0.488													5	127					0.000602214	0.00062298	1	1	0	T	80767431	G	T	80767431	2	4	391	1	0	0	0	0	0	0	0	1	965	1364	48	5		5	ARNT2	15	80767431	Silent	SNP	G	TCGA-QH-A6X8-01A-12D-A32B-08		80767431	21763961	32	33133											
ACSM5	54988	broad.mit.edu	37	16	20451165	20451165	+	Missense_Mutation	SNP	A	A	C			TCGA-QH-A6X8-01A-12D-A32B-08	TCGA-QH-A6X8-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71e95c57-ab3b-4957-80b4-d09e1dc5bf5b	62e83b8b-1d23-4ca1-8b92-866a07af39fd	g.chr16:20451165A>C	ENST00000331849.4	+	13	1727	c.1580A>C	c.(1579-1581)cAt>cCt	p.H527P		NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5	527					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						TACTCCTCTCATGACCCAGAG	0.473													19	63					0	0	1	0	0	C	20451165	A	C	20451165	3	2	391	1	0	0	0	0	1	0	0	0	187	217	8	4	1626	4	ACSM5	16	20451165	Missense_Mutation	SNP	A	TCGA-QH-A6X8-01A-12D-A32B-08		20451165	69903588	33	33134											
NEURL4	84461	broad.mit.edu	37	17	7231124	7231124	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A6X8-01A-12D-A32B-08	TCGA-QH-A6X8-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71e95c57-ab3b-4957-80b4-d09e1dc5bf5b	62e83b8b-1d23-4ca1-8b92-866a07af39fd	g.chr17:7231124G>A	ENST00000399464.2	-	2	377	c.362C>T	c.(361-363)aCg>aTg	p.T121M	NEURL4_ENST00000315614.7_Missense_Mutation_p.T121M|NEURL4_ENST00000570460.1_Missense_Mutation_p.T121M	NM_032442.2	NP_115818.2			neuralized E3 ubiquitin protein ligase 4											central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CTTCAGGCCCGTGGCACTGCT	0.602													19	37					0	0	1	0	0	A	7231124	G	A	7231124	3	1	391	1	0	0	0	0	1	0	0	0	10394	1145	40	1	4438	1	NEURL4	17	7231124	Missense_Mutation	SNP	G	TCGA-QH-A6X8-01A-12D-A32B-08		7231124	73964086	34	33135											
MYH1	4619	broad.mit.edu	37	17	10397924	10397924	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A6X8-01A-12D-A32B-08	TCGA-QH-A6X8-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71e95c57-ab3b-4957-80b4-d09e1dc5bf5b	62e83b8b-1d23-4ca1-8b92-866a07af39fd	g.chr17:10397924G>A	ENST00000226207.5	-	38	5627	c.5533C>T	c.(5533-5535)Cgc>Tgc	p.R1845C	RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1845				R -> H (in Ref. 4; CAA27380).		muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						TCATGTTTGCGTAGACCCTTG	0.393													44	80					0	0	1	0	0	A	10397924	G	A	10397924	3	1	391	1	0	0	0	0	1	0	0	0	10077	1145	40	1	298	1	MYH1	17	10397924	Missense_Mutation	SNP	G	TCGA-QH-A6X8-01A-12D-A32B-08	3166800	10397924	70797286	35	33136											
MPRIP	23164	broad.mit.edu	37	17	17077304	17077304	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A6X8-01A-12D-A32B-08	TCGA-QH-A6X8-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71e95c57-ab3b-4957-80b4-d09e1dc5bf5b	62e83b8b-1d23-4ca1-8b92-866a07af39fd	g.chr17:17077304C>T	ENST00000395811.5	+	18	2593	c.2504C>T	c.(2503-2505)gCc>gTc	p.A835V	RP11-45M22.3_ENST00000584203.1_RNA|MPRIP_ENST00000444976.1_Missense_Mutation_p.A797V|MPRIP_ENST00000341712.4_Missense_Mutation_p.A835V|MPRIP_ENST00000395804.3_Missense_Mutation_p.A835V	NM_015134.3|NM_201274.3	NP_055949.2|NP_958431.2	Q6WCQ1	MPRIP_HUMAN	myosin phosphatase Rho interacting protein	835	Interaction with PPP1R12A.					cytoplasm|cytoskeleton	actin binding			biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						CTGGAGAATGCCCATCTGGCC	0.662													3	43					0	0	1	0	0	T	17077304	C	T	17077304	3	4	391	1	0	0	0	0	1	0	0	0	9792	739	26	2	2574	2	MPRIP	17	17077304	Missense_Mutation	SNP	C	TCGA-QH-A6X8-01A-12D-A32B-08	6679380	17077304	64117906	36	33137											
KIF18B	146909	broad.mit.edu	37	17	43003541	43003541	+	Silent	SNP	A	A	G			TCGA-QH-A6X8-01A-12D-A32B-08	TCGA-QH-A6X8-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71e95c57-ab3b-4957-80b4-d09e1dc5bf5b	62e83b8b-1d23-4ca1-8b92-866a07af39fd	g.chr17:43003541A>G	ENST00000593135.1	-	16	2563	c.2466T>C	c.(2464-2466)agT>agC	p.S822S	KIF18B_ENST00000339151.4_Silent_p.S825S|KIF18B_ENST00000438933.2_3'UTR|KIF18B_ENST00000587309.1_3'UTR	NM_001265577.1	NP_001252506.1			kinesin family member 18B											breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	21		Prostate(33;0.155)				GGCACAGGGGACTCAAGGGCA	0.642													15	19					0	0	1	0	0	G	43003541	A	G	43003541	2	3	391	1	0	0	0	0	0	0	0	1	8323	272	10	3		3	KIF18B	17	43003541	Silent	SNP	A	TCGA-QH-A6X8-01A-12D-A32B-08	25926237	43003541	38191669	37	33138											
BCAS3	54828	broad.mit.edu	37	17	59024689	59024689	+	Silent	SNP	T	T	C			TCGA-QH-A6X8-01A-12D-A32B-08	TCGA-QH-A6X8-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71e95c57-ab3b-4957-80b4-d09e1dc5bf5b	62e83b8b-1d23-4ca1-8b92-866a07af39fd	g.chr17:59024689T>C	ENST00000589222.1	+	14	1265	c.1197T>C	c.(1195-1197)ctT>ctC	p.L399L	BCAS3_ENST00000588462.1_Silent_p.L399L|BCAS3_ENST00000585744.1_Silent_p.L170L|BCAS3_ENST00000407086.3_Silent_p.L399L|BCAS3_ENST00000390652.5_Silent_p.L399L|BCAS3_ENST00000588874.1_Silent_p.L170L|BCAS3_ENST00000408905.3_Silent_p.L399L			Q9H6U6	BCAS3_HUMAN	breast carcinoma amplified sequence 3	399						nucleus				NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44			BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)			TGTATACTCTTCACAGGGGAG	0.408													67	103					0	0	1	0	0	C	59024689	T	C	59024689	2	2	391	1	0	0	0	0	0	0	0	1	1350	1770	62	3		3	BCAS3	17	59024689	Silent	SNP	T	TCGA-QH-A6X8-01A-12D-A32B-08	16021148	59024689	22170521	38	33139											
MUC16	94025	broad.mit.edu	37	19	9058490	9058490	+	Silent	SNP	G	G	A			TCGA-QH-A6X8-01A-12D-A32B-08	TCGA-QH-A6X8-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71e95c57-ab3b-4957-80b4-d09e1dc5bf5b	62e83b8b-1d23-4ca1-8b92-866a07af39fd	g.chr19:9058490G>A	ENST00000397910.4	-	3	29159	c.28956C>T	c.(28954-28956)ccC>ccT	p.P9652P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9654	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTGTCATGATGGGAGAGGTAG	0.488													25	41					0	0	1	0	0	A	9058490	G	A	9058490	2	1	391	1	0	0	0	0	0	0	0	1	10021	1335	47	2		2	MUC16	19	9058490	Silent	SNP	G	TCGA-QH-A6X8-01A-12D-A32B-08		9058490	50070493	39	33140											
CIC	23152	broad.mit.edu	37	19	42791722	42791722	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A6X8-01A-12D-A32B-08	TCGA-QH-A6X8-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71e95c57-ab3b-4957-80b4-d09e1dc5bf5b	62e83b8b-1d23-4ca1-8b92-866a07af39fd	g.chr19:42791722C>T	ENST00000572681.2	+	6	3403	c.3335C>T	c.(3334-3336)cCc>cTc	p.P1112L	CIC_ENST00000575354.2_Missense_Mutation_p.P203L|CIC_ENST00000160740.3_Missense_Mutation_p.P203L			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	203	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				ATCCGGCGGCCCATGAATGCC	0.627			"Mis, F, S"		oligodendroglioma								21	17					0	0	1	0	0	T	42791722	C	T	42791722	3	4	391	1	0	0	0	0	1	0	0	0	3446	623	22	2	626	2	CIC	19	42791722	Missense_Mutation	SNP	C	TCGA-QH-A6X8-01A-12D-A32B-08	33733232	42791722	16337261	40	33141											
GLRA2	2742	broad.mit.edu	37	X	14627180	14627180	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A6X8-01A-12D-A32B-08	TCGA-QH-A6X8-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71e95c57-ab3b-4957-80b4-d09e1dc5bf5b	62e83b8b-1d23-4ca1-8b92-866a07af39fd	g.chrX:14627180G>A	ENST00000218075.4	+	7	1313	c.783G>A	c.(781-783)atG>atA	p.M261I	GLRA2_ENST00000355020.4_Missense_Mutation_p.M261I|GLRA2_ENST00000443437.2_Missense_Mutation_p.M172I	NM_002063.3	NP_002054.1	P23416	GLRA2_HUMAN	glycine receptor, alpha 2	261					neuropeptide signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(22)|ovary(1)|prostate(1)|skin(2)	37	Hepatocellular(33;0.128)				Ethanol(DB00898)|Glycine(DB00145)	TGATCCAGATGTACATCCCAA	0.443													52	82					0	0	1	0	0	A	14627180	G	A	14627180	3	1	391	1	0	0	0	0	1	0	0	0	6497	1377	48	2	881	2	GLRA2	23	14627180	Missense_Mutation	SNP	G	TCGA-QH-A6X8-01A-12D-A32B-08		14627180	140643380	41	33142											
PDK3	5165	broad.mit.edu	37	X	24552177	24552177	+	Silent	SNP	A	A	G			TCGA-QH-A6X8-01A-12D-A32B-08	TCGA-QH-A6X8-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71e95c57-ab3b-4957-80b4-d09e1dc5bf5b	62e83b8b-1d23-4ca1-8b92-866a07af39fd	g.chrX:24552177A>G	ENST00000441463.2	+	11	1209	c.1209A>G	c.(1207-1209)aaA>aaG	p.K403K	PDK3_ENST00000379162.4_Silent_p.K403K	NM_001142386.2	NP_001135858.1	Q15120	PDK3_HUMAN	pyruvate dehydrogenase kinase, isozyme 3	403					glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	ATP binding|protein binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity			NS(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						CAAAATACAAAGCAAAACAGT	0.428													8	27					0	0	1	0	0	G	24552177	A	G	24552177	2	3	391	1	0	0	0	0	0	0	0	1	11724	69	3	3		3	PDK3	23	24552177	Silent	SNP	A	TCGA-QH-A6X8-01A-12D-A32B-08	9924997	24552177	130718383	42	33143											
MAGEB6	158809	broad.mit.edu	37	X	26212016	26212016	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A6X8-01A-12D-A32B-08	TCGA-QH-A6X8-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71e95c57-ab3b-4957-80b4-d09e1dc5bf5b	62e83b8b-1d23-4ca1-8b92-866a07af39fd	g.chrX:26212016C>T	ENST00000379034.1	+	2	202	c.53C>T	c.(52-54)aCc>aTc	p.T18I		NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	18										breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						CGCCAAGAGACCAATGGTCAG	0.572													29	38					0	0	1	0	0	T	26212016	C	T	26212016	3	4	391	1	0	0	0	0	1	0	0	0	9229	507	18	2	55	2	MAGEB6	23	26212016	Missense_Mutation	SNP	C	TCGA-QH-A6X8-01A-12D-A32B-08	1659839	26212016	129058544	43	33144											
ATRX	546	broad.mit.edu	37	X	76855029	76855029	+	Missense_Mutation	SNP	T	T	C			TCGA-QH-A6X8-01A-12D-A32B-08	TCGA-QH-A6X8-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71e95c57-ab3b-4957-80b4-d09e1dc5bf5b	62e83b8b-1d23-4ca1-8b92-866a07af39fd	g.chrX:76855029T>C	ENST00000373344.5	-	25	6021	c.5807A>G	c.(5806-5808)aAg>aGg	p.K1936R	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.K1898R	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1936	Poly-Lys.				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.K1936T(2)|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)	TTTTTTCCCCTTTTTCCCTTT	0.348			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						4	351					0	0	1	0	0	C	76855029	T	C	76855029	3	2	391	1	0	0	0	0	1	0	0	0	1206	1609	56	3	1715	3	ATRX	23	76855029	Missense_Mutation	SNP	T	TCGA-QH-A6X8-01A-12D-A32B-08	50643013	76855029	78415531	44	33145											
DACH2	117154	broad.mit.edu	37	X	86069792	86069792	+	Missense_Mutation	SNP	C	C	G			TCGA-QH-A6X8-01A-12D-A32B-08	TCGA-QH-A6X8-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71e95c57-ab3b-4957-80b4-d09e1dc5bf5b	62e83b8b-1d23-4ca1-8b92-866a07af39fd	g.chrX:86069792C>G	ENST00000373131.1	+	9	1763	c.1600C>G	c.(1600-1602)Ctt>Gtt	p.L534V	DACH2_ENST00000373125.4_Missense_Mutation_p.L547V|DACH2_ENST00000510272.1_Missense_Mutation_p.L328V|DACH2_ENST00000508860.1_Missense_Mutation_p.L380V	NM_001139514.1	NP_001132986.1	Q96NX9	DACH2_HUMAN	dachshund homolog 2 (Drosophila)	547					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|nucleotide binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						GGAGCAGGCACTTAAGCAAGC	0.428													7	23					0	0	1	0	0	G	86069792	C	G	86069792	3	3	391	1	0	0	0	0	1	0	0	0	4245	565	20	4	1677	4	DACH2	23	86069792	Missense_Mutation	SNP	C	TCGA-QH-A6X8-01A-12D-A32B-08	9214763	86069792	69200768	45	33146											
CXorf57	55086	broad.mit.edu	37	X	105905388	105905388	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A6X8-01A-12D-A32B-08	TCGA-QH-A6X8-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71e95c57-ab3b-4957-80b4-d09e1dc5bf5b	62e83b8b-1d23-4ca1-8b92-866a07af39fd	g.chrX:105905388C>T	ENST00000372548.4	+	12	2231	c.2122C>T	c.(2122-2124)Cgg>Tgg	p.R708W	CXorf57_ENST00000372544.2_Missense_Mutation_p.R611W|CXorf57_ENST00000497124.1_3'UTR	NM_018015.5	NP_060485.4	Q6NSI4	CX057_HUMAN	chromosome X open reading frame 57	708										NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	31						AAGTATTCCACGGAAATTTAT	0.408													26	42					0	0	1	0	0	T	105905388	C	T	105905388	3	4	391	1	0	0	0	0	1	0	0	0	4136	527	19	1	2168	1	CXorf57	23	105905388	Missense_Mutation	SNP	C	TCGA-QH-A6X8-01A-12D-A32B-08	19835596	105905388	49365172	46	33147											
LONRF3	79836	broad.mit.edu	37	X	118151572	118151572	+	Silent	SNP	C	C	G			TCGA-QH-A6X8-01A-12D-A32B-08	TCGA-QH-A6X8-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71e95c57-ab3b-4957-80b4-d09e1dc5bf5b	62e83b8b-1d23-4ca1-8b92-866a07af39fd	g.chrX:118151572C>G	ENST00000304778.7	+	10	2239	c.2076C>G	c.(2074-2076)ccC>ccG	p.P692P	LONRF3_ENST00000371628.3_Silent_p.P733P|LONRF3_ENST00000472173.1_3'UTR|LONRF3_ENST00000422289.2_Silent_p.P477P	NM_024778.4	NP_079054.3	Q496Y0	LONF3_HUMAN	LON peptidase N-terminal domain and ring finger 3	733	Lon.				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						CTCAGCTCCCCTTCCTAGCAA	0.512													39	49					0	0	1	0	0	G	118151572	C	G	118151572	2	3	391	1	0	0	0	0	0	0	0	1	8941	668	24	4		4	LONRF3	23	118151572	Silent	SNP	C	TCGA-QH-A6X8-01A-12D-A32B-08	12246184	118151572	37118988	47	33148											
IGSF1	3547	broad.mit.edu	37	X	130412696	130412696	+	Silent	SNP	G	G	A			TCGA-QH-A6X8-01A-12D-A32B-08	TCGA-QH-A6X8-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71e95c57-ab3b-4957-80b4-d09e1dc5bf5b	62e83b8b-1d23-4ca1-8b92-866a07af39fd	g.chrX:130412696G>A	ENST00000370904.1	-	18	2663	c.1753C>T	c.(1753-1755)Ctg>Ttg	p.L585L	IGSF1_ENST00000361420.3_Silent_p.L594L|IGSF1_ENST00000370910.1_Silent_p.L585L|IGSF1_ENST00000370903.3_Silent_p.L599L			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	594					regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						TCTGCCCACAGCTCAGGCTTA	0.537													41	56					0	0	1	0	0	A	130412696	G	A	130412696	2	1	391	1	0	0	0	0	0	0	0	1	7640	962	34	2		2	IGSF1	23	130412696	Silent	SNP	G	TCGA-QH-A6X8-01A-12D-A32B-08	12261124	130412696	24857864	48	33149											
MAGEA8	4107	broad.mit.edu	37	X	149013734	149013734	+	Missense_Mutation	SNP	G	G	C			TCGA-QH-A6X8-01A-12D-A32B-08	TCGA-QH-A6X8-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71e95c57-ab3b-4957-80b4-d09e1dc5bf5b	62e83b8b-1d23-4ca1-8b92-866a07af39fd	g.chrX:149013734G>C	ENST00000535454.1	+	4	1237	c.688G>C	c.(688-690)Gtg>Ctg	p.V230L	MAGEA8_ENST00000286482.1_Missense_Mutation_p.V230L|MAGEA8_ENST00000542674.1_Missense_Mutation_p.V230L	NM_001166400.1	NP_001159872.1	P43361	MAGA8_HUMAN	melanoma antigen family A, 8	230	MAGE.									NS(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(12)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(192;6.56e-05)					AGCATTGAGTGTGATGGGGCT	0.577													4	93					0	0	1	0	0	C	149013734	G	C	149013734	3	2	391	1	0	0	0	0	1	0	0	0	9219	1377	48	5	690	5	MAGEA8	23	149013734	Missense_Mutation	SNP	G	TCGA-QH-A6X8-01A-12D-A32B-08	18601038	149013734	6256826	49	33150											
SARS	6301	broad.mit.edu	37	1	109773620	109773620	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr1:109773620G>A	ENST00000369923.4	+	5	579	c.568G>A	c.(568-570)Ggg>Agg	p.G190R	SARS_ENST00000234677.2_Missense_Mutation_p.G190R			P49591	SYSC_HUMAN	seryl-tRNA synthetase	190					seryl-tRNA aminoacylation|tRNA processing	cytosol	ATP binding|protein binding|RNA binding|serine-tRNA ligase activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	17		all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0301)|Lung(183;0.0677)|COAD - Colon adenocarcinoma(174;0.116)|Epithelial(280;0.233)	L-Serine(DB00133)	CGTGGTGGCTGGGAGTCGAGG	0.418													36	33					0	0	1	0	0	A	109773620	G	A	109773620	3	1	392	1	0	0	0	0	1	0	0	0	13897	1348	47	2	586	2	SARS	1	109773620	Missense_Mutation	SNP	G	TCGA-QH-A6X9-01A-12D-A32B-08		109773620	139477001	1	33151											
HMCN1	83872	broad.mit.edu	37	1	186014932	186014932	+	Silent	SNP	A	A	G			TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr1:186014932A>G	ENST00000271588.4	+	41	6646	c.6417A>G	c.(6415-6417)aaA>aaG	p.K2139K	HMCN1_ENST00000367492.2_Silent_p.K2139K	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	2139	Ig-like C2-type 19.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CTTGGTTAAAAGACGGCCACC	0.393													4	52					0	0	1	0	0	G	186014932	A	G	186014932	2	3	392	1	0	0	0	0	0	0	0	1	7261	69	3	3		3	HMCN1	1	186014932	Silent	SNP	A	TCGA-QH-A6X9-01A-12D-A32B-08	76241312	186014932	63235689	2	33152											
OR2L3	391192	broad.mit.edu	37	1	248224013	248224013	+	Silent	SNP	T	T	C			TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr1:248224013T>C	ENST00000359959.3	+	1	30	c.30T>C	c.(28-30)gaT>gaC	p.D10D	OR2L13_ENST00000366478.2_Intron	NM_001004687.1	NP_001004687.1	Q8NG85	OR2L3_HUMAN	olfactory receptor, family 2, subfamily L, member 3	10					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1)	41	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			CATCAACTGATTTCATCTTAT	0.388													16	204					0	0	1	0	0	C	248224013	T	C	248224013	2	2	392	1	0	0	0	0	0	0	0	1	11056	1490	52	3		3	OR2L3	1	248224013	Silent	SNP	T	TCGA-QH-A6X9-01A-12D-A32B-08	62209081	248224013	1026608	3	33153											
IL1RL1	9173	broad.mit.edu	37	2	102955415	102955415	+	Missense_Mutation	SNP	G	G	C			TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr2:102955415G>C	ENST00000311734.2	+	3	519	c.180G>C	c.(178-180)caG>caC	p.Q60H	IL1RL1_ENST00000393393.3_Missense_Mutation_p.Q60H|IL1RL1_ENST00000233954.1_Missense_Mutation_p.Q60H|IL1RL1_ENST00000404917.2_Intron|IL1RL1_ENST00000409584.1_Missense_Mutation_p.Q60H|IL1RL1_ENST00000473175.1_3'UTR	NM_001282408.1	NP_001269337.1	Q01638	ILRL1_HUMAN	interleukin 1 receptor-like 1	60	Ig-like C2-type 1.				innate immune response	integral to membrane	interleukin-1 receptor activity|receptor signaling protein activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1)	16						TTCCCACTCAGGAAAGAAATC	0.393													50	118					0	0	1	0	0	C	102955415	G	C	102955415	3	2	392	1	0	0	0	0	1	0	0	0	7707	991	35	4	186	4	IL1RL1	2	102955415	Missense_Mutation	SNP	G	TCGA-QH-A6X9-01A-12D-A32B-08		102955415	140243958	4	33154											
POTEE	445582	broad.mit.edu	37	2	132021463	132021463	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr2:132021463C>T	ENST00000356920.5	+	15	2529	c.2435C>T	c.(2434-2436)cCc>cTc	p.P812L	PLEKHB2_ENST00000404460.1_Intron|PLEKHB2_ENST00000303908.3_Intron|POTEE_ENST00000358087.5_3'UTR	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	812	Actin-like.						ATP binding										CCCCTGAACCCCAAGGCCAAC	0.602													24	97					0	0	1	0	0	T	132021463	C	T	132021463	3	4	392	1	0	0	0	0	1	0	0	0	12311	623	22	2	2493	2	POTEE	2	132021463	Missense_Mutation	SNP	C	TCGA-QH-A6X9-01A-12D-A32B-08	29066048	132021463	111177910	5	33155											
TTN	7273	broad.mit.edu	37	2	179590358	179590358	+	Missense_Mutation	SNP	G	G	C			TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr2:179590358G>C	ENST00000589042.1	-	71	20797	c.20573C>G	c.(20572-20574)tCc>tGc	p.S6858C	TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|RP11-171I2.1_ENST00000590024.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.S5614C|TTN_ENST00000591111.1_Missense_Mutation_p.S6541C	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	6541	Ig-like 50.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTTCAGTTTGGAGACAAATCT	0.433													18	35					0	0	1	0	0	C	179590358	G	C	179590358	3	2	392	1	0	0	0	0	1	0	0	0	16797	1174	41	5	84124	5	TTN	2	179590358	Missense_Mutation	SNP	G	TCGA-QH-A6X9-01A-12D-A32B-08	47568895	179590358	63609015	6	33156											
NRP2	8828	broad.mit.edu	37	2	206628528	206628528	+	Silent	SNP	C	C	G			TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr2:206628528C>G	ENST00000360409.3	+	13	2966	c.2175C>G	c.(2173-2175)ggC>ggG	p.G725G	AC007362.3_ENST00000423425.1_RNA|NRP2_ENST00000540841.1_Silent_p.G725G|NRP2_ENST00000357118.4_Silent_p.G725G|AC007362.3_ENST00000596616.1_RNA|NRP2_ENST00000412873.2_Silent_p.G725G|NRP2_ENST00000540178.1_Silent_p.G725G|NRP2_ENST00000357785.5_Silent_p.G725G|NRP2_ENST00000485684.1_3'UTR|NRP2_ENST00000272849.3_Silent_p.G725G|AC007362.3_ENST00000598710.1_RNA	NM_003872.2|NM_201266.1|NM_201279.1	NP_003863.2|NP_957718|NP_958436.1	O60462	NRP2_HUMAN	neuropilin 2	725	MAM.				angiogenesis|axon guidance|cell adhesion	integral to membrane|membrane fraction|plasma membrane	heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						CCACGGGCGGCCGCGGGGTGG	0.692											OREG0015155	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	58					0	0	1	0	0	G	206628528	C	G	206628528	2	3	392	1	0	0	0	0	0	0	0	1	10709	726	26	5		5	NRP2	2	206628528	Silent	SNP	C	TCGA-QH-A6X9-01A-12D-A32B-08	27038170	206628528	36570845	7	33157											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	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	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								24	36					0	0	1	0	0	T	209113112	C	T	209113112	3	4	392	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-QH-A6X9-01A-12D-A32B-08	2484584	209113112	34086261	8	33158											
IHH	3549	broad.mit.edu	37	2	219922332	219922332	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr2:219922332C>T	ENST00000295731.6	-	2	399	c.400G>A	c.(400-402)Gac>Aac	p.D134N		NM_002181.3	NP_002172.2	Q14623	IHH_HUMAN	indian hedgehog						cell-cell signaling|intein-mediated protein splicing|proteolysis	extracellular space|plasma membrane	cholesterol binding|patched binding|peptidase activity			breast(1)|endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	14		Renal(207;0.0915)		Epithelial(149;1.13e-06)|all cancers(144;0.000188)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCGTCCTCGTCCCAGCCCTCG	0.627													14	17					0	0	1	0	0	T	219922332	C	T	219922332	3	4	392	1	0	0	0	0	1	0	0	0	7651	855	30	2	843	2	IHH	2	219922332	Missense_Mutation	SNP	C	TCGA-QH-A6X9-01A-12D-A32B-08	10809220	219922332	23277041	9	33159											
OR6B2	389090	broad.mit.edu	37	2	240969527	240969527	+	Missense_Mutation	SNP	A	A	G			TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr2:240969527A>G	ENST00000402971.2	-	1	379	c.320T>C	c.(319-321)cTg>cCg	p.L107P		NM_001005853.1	NP_001005853.1	Q6IFH4	OR6B2_HUMAN	olfactory receptor, family 6, subfamily B, member 2	107					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(4)|lung(9)|prostate(1)	15		all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;3.4e-29)|all cancers(36;2.08e-27)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)		GGTGCACACCAGGGAGCTGAA	0.617													11	17					0	0	1	0	0	G	240969527	A	G	240969527	3	3	392	1	0	0	0	0	1	0	0	0	11235	188	7	3	620	3	OR6B2	2	240969527	Missense_Mutation	SNP	A	TCGA-QH-A6X9-01A-12D-A32B-08	21047195	240969527	2229846	10	33160											
SCN11A	11280	broad.mit.edu	37	3	38938452	38938452	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr3:38938452G>A	ENST00000450244.1	-	14	2485	c.2287C>T	c.(2287-2289)Cgc>Tgc	p.R763C	SCN11A_ENST00000444237.2_Missense_Mutation_p.R763C|SCN11A_ENST00000302328.3_Missense_Mutation_p.R763C|SCN11A_ENST00000456224.3_Missense_Mutation_p.R763C			Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	763					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	CAGAGGATGCGGAATACCACT	0.473													4	25					0	0	1	0	0	A	38938452	G	A	38938452	3	1	392	1	0	0	0	0	1	0	0	0	13967	1116	39	1	3140	1	SCN11A	3	38938452	Missense_Mutation	SNP	G	TCGA-QH-A6X9-01A-12D-A32B-08		38938452	159083978	11	33161											
ZNF621	285268	broad.mit.edu	37	3	40574112	40574112	+	Missense_Mutation	SNP	T	T	G			TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr3:40574112T>G	ENST00000339296.5	+	5	1303	c.851T>G	c.(850-852)aTt>aGt	p.I284S	ZNF621_ENST00000490457.1_Intron|ZNF621_ENST00000310898.1_Intron|ZNF621_ENST00000403205.2_Missense_Mutation_p.I284S|ZNF621_ENST00000431278.1_Missense_Mutation_p.I173S	NM_198484.3	NP_940886.1	Q6ZSS3	ZN621_HUMAN	zinc finger protein 621	284					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0515)|Kidney(284;0.0648)		CATCAGAGAATTCATACTGGG	0.433													10	23					0	0	1	0	0	G	40574112	T	G	40574112	3	3	392	1	0	0	0	0	1	0	0	0	18102	1493	52	4	865	4	ZNF621	3	40574112	Missense_Mutation	SNP	T	TCGA-QH-A6X9-01A-12D-A32B-08	1635660	40574112	157448318	12	33162											
PLXNA1	5361	broad.mit.edu	37	3	126748762	126748762	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr3:126748762G>A	ENST00000393409.2	+	27	4916	c.4916G>A	c.(4915-4917)cGc>cAc	p.R1639H	PLXNA1_ENST00000251772.4_Missense_Mutation_p.R1616H	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	1639					axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		CTGCGCTCGCGCACGCCCATG	0.716													3	44					0	0	1	0	0	A	126748762	G	A	126748762	3	1	392	1	0	0	0	0	1	0	0	0	12167	1087	38	1	5022	1	PLXNA1	3	126748762	Missense_Mutation	SNP	G	TCGA-QH-A6X9-01A-12D-A32B-08	86174650	126748762	71273668	13	33163											
CCNG2	901	broad.mit.edu	37	4	78080651	78080652	+	Frame_Shift_Ins	INS	-	-	A			TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr4:78080651_78080652insA	ENST00000316355.5	+	3	626_627	c.270_271insA	c.(271-273)atgfs	p.M91fs	CCNG2_ENST00000354403.5_Frame_Shift_Ins_p.M91fs|CCNG2_ENST00000497512.1_3'UTR|CCNG2_ENST00000502280.1_Frame_Shift_Ins_p.M91fs|CCNG2_ENST00000395640.1_Frame_Shift_Ins_p.M91fs|CCNG2_ENST00000509972.1_Frame_Shift_Ins_p.M91fs	NM_004354.2	NP_004345.1	Q16589	CCNG2_HUMAN	cyclin G2	91					cell cycle checkpoint|cell division|mitosis	cytoplasm				breast(1)|kidney(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	10						TCTTGGCTCTTATGAAGGTATT	0.356													13	73	---	---	---	---						A	78080652	-	A	78080651	7	5	392	1	0	1	1	0	0	0	0	0	2946	1741	61	0	276	0	CCNG2	4	78080651	Frame_Shift_Ins	INS	-	TCGA-QH-A6X9-01A-12D-A32B-08		78080651	113073625	14	33164											
HIST1H2AC	8334	broad.mit.edu	37	6	26124846	26124846	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr6:26124846G>A	ENST00000602637.1	+	1	416	c.386G>A	c.(385-387)gGc>gAc	p.G129D	HIST1H2AC_ENST00000377791.2_Missense_Mutation_p.G129D			Q93077	H2A1C_HUMAN	histone cluster 1, H2ac	129					nucleosome assembly	nucleosome|nucleus	DNA binding			NS(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|lung(5)	12						AAGGCCAAGGGCAAGTGATTT	0.542													17	38					0	0	1	0	0	A	26124846	G	A	26124846	3	1	392	1	0	0	0	0	1	0	0	0	7171	1203	42	2	388	2	HIST1H2AC	6	26124846	Missense_Mutation	SNP	G	TCGA-QH-A6X9-01A-12D-A32B-08		26124846	144990221	15	33165											
HIST1H2BM	8342	broad.mit.edu	37	6	27782965	27782965	+	Missense_Mutation	SNP	G	G	C			TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr6:27782965G>C	ENST00000359465.4	+	1	144	c.144G>C	c.(142-144)caG>caC	p.Q48H		NM_003521.2	NP_003512.1	Q99879	H2B1M_HUMAN	histone cluster 1, H2bm	48					nucleosome assembly	nucleosome|nucleus	DNA binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)	12						TGCTGAAGCAGGTCCACCCCG	0.537													18	147					0	0	1	0	0	C	27782965	G	C	27782965	3	2	392	1	0	0	0	0	1	0	0	0	7193	991	35	4	146	4	HIST1H2BM	6	27782965	Missense_Mutation	SNP	G	TCGA-QH-A6X9-01A-12D-A32B-08	1658119	27782965	143332102	16	33166											
GRM4	2914	broad.mit.edu	37	6	34029798	34029798	+	Silent	SNP	C	C	T			TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr6:34029798C>T	ENST00000538487.2	-	4	1187	c.744G>A	c.(742-744)gtG>gtA	p.V248V	GRM4_ENST00000374177.3_Silent_p.V179V|GRM4_ENST00000535756.1_Silent_p.V115V|GRM4_ENST00000544773.2_Silent_p.V79V|GRM4_ENST00000609222.1_Silent_p.V115V|GRM4_ENST00000374181.4_Silent_p.V248V|GRM4_ENST00000455714.2_Silent_p.V108V|GRM4_ENST00000545715.1_5'UTR	NM_000841.2|NM_001256811.1	NP_000832.1|NP_001243740.1	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4						activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48					L-Glutamic Acid(DB00142)	GGGCGATGCACACGCCCCCTG	0.642													15	28					0	0	1	0	0	T	34029798	C	T	34029798	2	4	392	1	0	0	0	0	0	0	0	1	6840	465	17	2		2	GRM4	6	34029798	Silent	SNP	C	TCGA-QH-A6X9-01A-12D-A32B-08	6246833	34029798	137085269	17	33167											
KLHDC3	116138	broad.mit.edu	37	6	42985952	42985952	+	Missense_Mutation	SNP	A	A	G			TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr6:42985952A>G	ENST00000326974.4	+	5	712	c.517A>G	c.(517-519)Aag>Gag	p.K173E	KLHDC3_ENST00000244670.8_Missense_Mutation_p.K39E|KLHDC3_ENST00000332245.8_Missense_Mutation_p.K114E	NM_057161.3	NP_476502.1	Q9BQ90	KLDC3_HUMAN	kelch domain containing 3	173					reciprocal meiotic recombination	cytoplasm|nuclear chromatin	chromatin binding|protein binding			cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	9			Colorectal(64;0.00237)|all cancers(41;0.0034)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0539)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			TATCTGTACAAAGGTCTGCTC	0.448													18	104					0	0	1	0	0	G	42985952	A	G	42985952	3	3	392	1	0	0	0	0	1	0	0	0	8400	15	1	3	531	3	KLHDC3	6	42985952	Missense_Mutation	SNP	A	TCGA-QH-A6X9-01A-12D-A32B-08	8956154	42985952	128129115	18	33168											
TAAR9	134860	broad.mit.edu	37	6	132860099	132860099	+	RNA	SNP	C	C	T			TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr6:132860099C>T	ENST00000434551.1	+	0	671					NM_175057.3	NP_778227.3	Q96RI9	TAAR9_HUMAN	trace amine associated receptor 9 (gene/pseudogene)							plasma membrane	G-protein coupled receptor activity					Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.0042)|GBM - Glioblastoma multiforme(226;0.00816)		TTTTTGGTGGCCAAGCATCAG	0.433													18	48					0	0	1	0	0	T	132860099	C	T	132860099	1	4	392	0	1	0	0	0	0	0	0	0	15551	739	26	2		2	TAAR9	6	132860099	RNA	SNP	C	TCGA-QH-A6X9-01A-12D-A32B-08	89874147	132860099	38254968	19	33169											
MLLT4	4301	broad.mit.edu	37	6	168281192	168281192	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr6:168281192G>A	ENST00000366806.2	+	6	1034	c.892G>A	c.(892-894)Gcc>Acc	p.A298T	MLLT4_ENST00000344191.4_Missense_Mutation_p.A298T|MLLT4_ENST00000392108.3_Missense_Mutation_p.A298T|MLLT4_ENST00000400822.3_Missense_Mutation_p.A297T|MLLT4_ENST00000447894.2_Missense_Mutation_p.A298T|MLLT4_ENST00000392112.1_Missense_Mutation_p.A297T|MLLT4_ENST00000351017.4_Missense_Mutation_p.A298T			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	298	Ras-associating 2.				adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		TTACTGCATCGCCCGGGTAAG	0.383			T	MLL	AL								10	102					0	0	1	0	0	A	168281192	G	A	168281192	3	1	392	1	0	0	0	0	1	0	0	0	9677	1087	38	1	914	1	MLLT4	6	168281192	Missense_Mutation	SNP	G	TCGA-QH-A6X9-01A-12D-A32B-08	35421093	168281192	2833875	20	33170											
PMS2	5395	broad.mit.edu	37	7	6045657	6045657	+	Missense_Mutation	SNP	T	T	G			TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr7:6045657T>G	ENST00000265849.7	-	2	134	c.29A>C	c.(28-30)gAa>gCa	p.E10A	PMS2_ENST00000382321.4_Missense_Mutation_p.E10A|PMS2_ENST00000469652.1_5'UTR|PMS2_ENST00000406569.3_Missense_Mutation_p.E10A	NM_000535.5	NP_000526	P54278	PMS2_HUMAN	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)	10					mismatch repair|reciprocal meiotic recombination|somatic hypermutation of immunoglobulin genes	MutLalpha complex	ATP binding|ATPase activity|endonuclease activity|protein binding|single base insertion or deletion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)		CTTAGCAGGTTCTGTACTAGA	0.388			"Mis, N, F"			"colorectal, endometrial, ovarian, medulloblastoma, glioma"		Direct reversal of damage;Mismatch excision repair (MMR)	Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				17	139					0	0	1	0	0	G	6045657	T	G	6045657	3	3	392	1	0	0	0	0	1	0	0	0	12191	1783	62	5	2615	5	PMS2	7	6045657	Missense_Mutation	SNP	T	TCGA-QH-A6X9-01A-12D-A32B-08		6045657	153093006	21	33171											
SLC26A4	5172	broad.mit.edu	37	7	107303781	107303781	+	Missense_Mutation	SNP	G	G	T			TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr7:107303781G>T	ENST00000265715.3	+	3	429	c.205G>T	c.(205-207)Gtg>Ttg	p.V69L		NM_000441.1	NP_000432.1	O43511	S26A4_HUMAN	solute carrier family 26 (anion exchanger), member 4	69					regulation of pH|regulation of protein localization|sensory perception of sound	apical plasma membrane|integral to membrane	chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity			central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						AAAGACTCTTGTGCCCATCTT	0.468									Pendred syndrome				4	114					0.150653	0.150653	1	1	0	T	107303781	G	T	107303781	3	4	392	1	0	0	0	0	1	0	0	0	14574	1377	48	5	211	5	SLC26A4	7	107303781	Missense_Mutation	SNP	G	TCGA-QH-A6X9-01A-12D-A32B-08	101258124	107303781	51834882	22	33172											
JPH1	56704	broad.mit.edu	37	8	75157237	75157237	+	Missense_Mutation	SNP	A	A	G	rs149108334		TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr8:75157237A>G	ENST00000342232.4	-	4	1472	c.1432T>C	c.(1432-1434)Tcc>Ccc	p.S478P		NM_020647.2	NP_065698.1	Q9HDC5	JPH1_HUMAN	junctophilin 1	478					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional membrane complex|junctional sarcoplasmic reticulum membrane|plasma membrane				endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	24	Breast(64;0.00576)		BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)			TTTGGGGAGGAAGCAGGAGAG	0.537													4	88					0	0	1	0	0	G	75157237	A	G	75157237	3	3	392	1	0	0	0	0	1	0	0	0	8004	246	9	3	561	3	JPH1	8	75157237	Missense_Mutation	SNP	A	TCGA-QH-A6X9-01A-12D-A32B-08		75157237	71206785	23	33173											
CNGB3	54714	broad.mit.edu	37	8	87645034	87645034	+	Silent	SNP	A	A	G			TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr8:87645034A>G	ENST00000320005.5	-	11	1313	c.1266T>C	c.(1264-1266)ttT>ttC	p.F422F		NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	422					signal transduction|visual perception	integral to membrane	cGMP binding			NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						TCAAGAGTTGAAAAACAATTT	0.353													24	20					0	0	1	0	0	G	87645034	A	G	87645034	2	3	392	1	0	0	0	0	0	0	0	1	3624	243	9	3		3	CNGB3	8	87645034	Silent	SNP	A	TCGA-QH-A6X9-01A-12D-A32B-08	12487797	87645034	58718988	24	33174											
MTSS1	9788	broad.mit.edu	37	8	125597328	125597328	+	Splice_Site	SNP	C	C	T			TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr8:125597328C>T	ENST00000518547.1	-	6	933	c.460G>A	c.(460-462)Ggg>Agg	p.G154R	MTSS1_ENST00000378017.3_Splice_Site_p.G154R|MTSS1_ENST00000354184.4_5'UTR|MTSS1_ENST00000325064.5_Splice_Site_p.V154M	NM_001282971.1|NM_014751.4	NP_001269900.1|NP_055566.3	O43312	MTSS1_HUMAN	metastasis suppressor 1	154	IMD.				actin cytoskeleton organization|cell adhesion|cellular component movement|filopodium assembly|transmembrane receptor protein tyrosine kinase signaling pathway	actin cytoskeleton|endocytic vesicle|ruffle	actin monomer binding|cytoskeletal adaptor activity|receptor binding|SH3 domain binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37	Ovarian(258;0.00438)|all_neural(195;0.00459)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			TAGGAGTTACCTTTTTTTGCT	0.373													52	90					0	0	1	0	0	T	125597328	C	T	125597328	5	4	392	1	0	0	0	0	0	0	1	0	10010	695	24	2	1843	2	MTSS1	8	125597328	Splice_Site	SNP	C	TCGA-QH-A6X9-01A-12D-A32B-08	37952294	125597328	20766694	25	33175											
KIAA0020	9933	broad.mit.edu	37	9	2829902	2829902	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr9:2829902C>T	ENST00000397885.2	-	8	930	c.724G>A	c.(724-726)Gtg>Atg	p.V242M	KIAA0020_ENST00000469168.1_5'UTR	NM_014878.4	NP_055693.4	Q15397	K0020_HUMAN	KIAA0020	242	PUM-HD.					endoplasmic reticulum|nucleolus	RNA binding			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)	21				GBM - Glioblastoma multiforme(50;0.0319)		ATCTTCCTCACGTGGCCTTTA	0.448													29	99					0	0	1	0	0	T	2829902	C	T	2829902	3	4	392	1	0	0	0	0	1	0	0	0	8194	536	19	1	1266	1	KIAA0020	9	2829902	Missense_Mutation	SNP	C	TCGA-QH-A6X9-01A-12D-A32B-08		2829902	138383529	26	33176											
PPFIBP2	8495	broad.mit.edu	37	11	7669667	7669667	+	Missense_Mutation	SNP	T	T	C			TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr11:7669667T>C	ENST00000299492.4	+	18	2084	c.1696T>C	c.(1696-1698)Tgg>Cgg	p.W566R	PPFIBP2_ENST00000533792.1_Missense_Mutation_p.W408R|PPFIBP2_ENST00000530181.1_Missense_Mutation_p.W423R|PPFIBP2_ENST00000528883.1_Missense_Mutation_p.W454R|PPFIBP2_ENST00000530582.1_3'UTR	NM_003621.3	NP_003612	Q8ND30	LIPB2_HUMAN	PTPRF interacting protein, binding protein 2 (liprin beta 2)	566	SAM 1.				cell communication|DNA integration	intracellular	DNA binding|integrase activity|protein binding			breast(8)|cervix(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				Epithelial(150;2.01e-07)|BRCA - Breast invasive adenocarcinoma(625;0.236)		TGTGTGTGCATGGCTGGAGGA	0.547													4	64					0	0	1	0	0	C	7669667	T	C	7669667	3	2	392	1	0	0	0	0	1	0	0	0	12359	1464	51	3	1762	3	PPFIBP2	11	7669667	Missense_Mutation	SNP	T	TCGA-QH-A6X9-01A-12D-A32B-08		7669667	127336849	27	33177											
OR8H3	390152	broad.mit.edu	37	11	55890587	55890587	+	Nonsense_Mutation	SNP	G	G	T			TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr11:55890587G>T	ENST00000313472.3	+	1	739	c.739G>T	c.(739-741)Gga>Tga	p.G247*		NM_001005201.1	NP_001005201.1	Q8N146	OR8H3_HUMAN	olfactory receptor, family 8, subfamily H, member 3	247					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42	Esophageal squamous(21;0.00693)					TCATCTCTTGGGAGTCACCAT	0.383													29	38					7.41945e-09	7.94195e-09	1	1	0	T	55890587	G	T	55890587	4	4	392	1	0	0	0	0	0	1	0	0	11286	1233	43	5	741	5	OR8H3	11	55890587	Nonsense_Mutation	SNP	G	TCGA-QH-A6X9-01A-12D-A32B-08	48220920	55890587	79115929	28	33178											
PELI3	246330	broad.mit.edu	37	11	66243323	66243323	+	Silent	SNP	C	C	T			TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr11:66243323C>T	ENST00000349459.6	+	7	1307	c.1023C>T	c.(1021-1023)gtC>gtT	p.V341V	PELI3_ENST00000531856.1_3'UTR|PELI3_ENST00000320740.7_Silent_p.V365V|CTD-3074O7.5_ENST00000533502.1_RNA|CTD-3074O7.5_ENST00000527092.1_RNA	NM_001098510.1	NP_001091980.1	Q8N2H9	PELI3_HUMAN	pellino E3 ubiquitin protein ligase family member 3	365						cytosol	protein binding			breast(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)	15						GCGGGCACGTCCATGGCTACC	0.711													12	12					0	0	1	0	0	T	66243323	C	T	66243323	2	4	392	1	0	0	0	0	0	0	0	1	11770	842	30	2		2	PELI3	11	66243323	Silent	SNP	C	TCGA-QH-A6X9-01A-12D-A32B-08	10352736	66243323	68763193	29	33179											
FAT3	120114	broad.mit.edu	37	11	92538511	92538511	+	Missense_Mutation	SNP	A	A	T			TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr11:92538511A>T	ENST00000298047.6	+	10	9106	c.9089A>T	c.(9088-9090)gAt>gTt	p.D3030V	FAT3_ENST00000525166.1_Missense_Mutation_p.D2880V|FAT3_ENST00000409404.2_Missense_Mutation_p.D3030V			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3030	Cadherin 28.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CCAGTGTGTGATCAGGTGAGA	0.423										TCGA Ovarian(4;0.039)			5	9					0	0	1	0	0	T	92538511	A	T	92538511	3	4	392	1	0	0	0	0	1	0	0	0	5724	333	12	4	9127	4	FAT3	11	92538511	Missense_Mutation	SNP	A	TCGA-QH-A6X9-01A-12D-A32B-08	26295188	92538511	42468005	30	33180											
CEP164	22897	broad.mit.edu	37	11	117282521	117282521	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr11:117282521C>T	ENST00000278935.3	+	32	4321	c.4174C>T	c.(4174-4176)Cgg>Tgg	p.R1392W	CEP164_ENST00000533706.1_3'UTR	NM_001271933.1|NM_014956.4	NP_001258862.1|NP_055771.4	Q9UPV0	CE164_HUMAN	centrosomal protein 164kDa	1392					cell division|DNA repair|G2/M transition of mitotic cell cycle|mitosis	centriole|cytosol|nucleus				breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3)	47	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)		TGAGCAGCTCCGGCTCCTACA	0.597													7	133					0	0	1	0	0	T	117282521	C	T	117282521	3	4	392	1	0	0	0	0	1	0	0	0	3271	643	23	1	4292	1	CEP164	11	117282521	Missense_Mutation	SNP	C	TCGA-QH-A6X9-01A-12D-A32B-08	24744010	117282521	17723995	31	33181											
ACACB	32	broad.mit.edu	37	12	109675033	109675033	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr12:109675033C>T	ENST00000338432.7	+	34	4629	c.4510C>T	c.(4510-4512)Cgg>Tgg	p.R1504W	ACACB_ENST00000377854.5_Missense_Mutation_p.R1434W|ACACB_ENST00000377848.3_Missense_Mutation_p.R1504W|ACACB_ENST00000543201.1_Missense_Mutation_p.R170W			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	1504					acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	GGAACTTAACCGGATGCGTAA	0.542													31	62					0	0	1	0	0	T	109675033	C	T	109675033	3	4	392	1	0	0	0	0	1	0	0	0	107	643	23	1	4640	1	ACACB	12	109675033	Missense_Mutation	SNP	C	TCGA-QH-A6X9-01A-12D-A32B-08		109675033	24176862	32	33182											
ABHD13	84945	broad.mit.edu	37	13	108882243	108882243	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr13:108882243C>T	ENST00000375898.3	+	2	978	c.677C>T	c.(676-678)gCc>gTc	p.A226V		NM_032859.2	NP_116248.2	Q7L211	ABHDD_HUMAN	abhydrolase domain containing 13	226						integral to membrane	hydrolase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	17	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)					CCACATATGGCCAGCACTTTA	0.383													17	112					0	0	1	0	0	T	108882243	C	T	108882243	3	4	392	1	0	0	0	0	1	0	0	0	78	739	26	2	679	2	ABHD13	13	108882243	Missense_Mutation	SNP	C	TCGA-QH-A6X9-01A-12D-A32B-08		108882243	6287635	33	33183											
OR4K2	390431	broad.mit.edu	37	14	20345046	20345046	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr14:20345046C>T	ENST00000298642.2	+	1	656	c.620C>T	c.(619-621)gCg>gTg	p.A207V		NM_001005501.1	NP_001005501.1	Q8NGD2	OR4K2_HUMAN	olfactory receptor, family 4, subfamily K, member 2	207					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A207V(1)|p.A207E(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GGCATAATTGCGTTGTCCTGT	0.398													18	202					0	0	1	0	0	T	20345046	C	T	20345046	3	4	392	1	0	0	0	0	1	0	0	0	11120	768	27	1	622	1	OR4K2	14	20345046	Missense_Mutation	SNP	C	TCGA-QH-A6X9-01A-12D-A32B-08		20345046	87004494	34	33184											
OR6S1	341799	broad.mit.edu	37	14	21109290	21109290	+	Silent	SNP	C	C	A			TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr14:21109290C>A	ENST00000320704.3	-	1	560	c.561G>T	c.(559-561)ctG>ctT	p.L187L		NM_001001968.1	NP_001001968.1	Q8NH40	OR6S1_HUMAN	olfactory receptor, family 6, subfamily S, member 1	187					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	all_cancers(95;0.00304)		Epithelial(56;1.23e-06)|all cancers(55;1.01e-05)	GBM - Glioblastoma multiforme(265;0.0135)		CCAGGCGGAGCAGTGGGCCAC	0.567													21	28					3.62473e-10	3.93542e-10	1	1	0	A	21109290	C	A	21109290	2	1	392	1	0	0	0	0	0	0	0	1	11256	697	25	5		5	OR6S1	14	21109290	Silent	SNP	C	TCGA-QH-A6X9-01A-12D-A32B-08	764244	21109290	86240250	35	33185											
FUT8	2530	broad.mit.edu	37	14	66096323	66096323	+	Splice_Site	SNP	A	A	T			TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr14:66096323A>T	ENST00000360689.5	+	6	2323	c.596A>T	c.(595-597)cAg>cTg	p.Q199L	FUT8_ENST00000394586.2_Splice_Site_p.Q199L|FUT8_ENST00000358307.2_Splice_Site_p.Q70L|FUT8_ENST00000557164.1_Splice_Site_p.Q36L|FUT8_ENST00000394585.1_Splice_Site_p.Q199L	NM_004480.4|NM_178155.2	NP_004471.4|NP_835368.1	Q9BYC5	FUT8_HUMAN	fucosyltransferase 8 (alpha (1,6) fucosyltransferase)	199					in utero embryonic development|L-fucose catabolic process|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein glycosylation in Golgi|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	glycoprotein 6-alpha-L-fucosyltransferase activity|SH3 domain binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	22				all cancers(60;0.00109)|OV - Ovarian serous cystadenocarcinoma(108;0.00242)|BRCA - Breast invasive adenocarcinoma(234;0.0114)		ACATATCTTCAGGTAAGAAGG	0.383													16	30					0	0	1	0	0	T	66096323	A	T	66096323	5	4	392	1	0	0	0	0	0	0	1	0	6145	202	7	5	709	5	FUT8	14	66096323	Splice_Site	SNP	A	TCGA-QH-A6X9-01A-12D-A32B-08	44987033	66096323	41253217	36	33186											
TRPM1	4308	broad.mit.edu	37	15	31294434	31294434	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr15:31294434G>A	ENST00000542188.1	-	27	4833	c.4520C>T	c.(4519-4521)aCg>aTg	p.T1507M	RP11-348B17.1_ENST00000561299.1_RNA|TRPM1_ENST00000397795.2_Missense_Mutation_p.T1468M|TRPM1_ENST00000256552.6_Missense_Mutation_p.T1490M	NM_001252020.1	NP_001238949.1	Q7Z4N2	TRPM1_HUMAN	transient receptor potential cation channel, subfamily M, member 1	1468					cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		TTGCCATTCCGTCGTCAATTG	0.488													13	136					0	0	1	0	0	A	31294434	G	A	31294434	3	1	392	1	0	0	0	0	1	0	0	0	16646	1145	40	1	412	1	TRPM1	15	31294434	Missense_Mutation	SNP	G	TCGA-QH-A6X9-01A-12D-A32B-08		31294434	71236958	37	33187											
OR1A2	26189	broad.mit.edu	37	17	3101424	3101424	+	Silent	SNP	C	C	T			TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr17:3101424C>T	ENST00000381951.1	+	1	612	c.612C>T	c.(610-612)ggC>ggT	p.G204G		NM_012352.1	NP_036484.1	Q9Y585	OR1A2_HUMAN	olfactory receptor, family 1, subfamily A, member 2	204					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(4)|stomach(2)	18						TAGGGGTCGGCGTTTTCTCTT	0.428													154	41					0	0	1	0	0	T	3101424	C	T	3101424	2	4	392	1	0	0	0	0	0	0	0	1	10998	755	27	1		1	OR1A2	17	3101424	Silent	SNP	C	TCGA-QH-A6X9-01A-12D-A32B-08		3101424	78093786	38	33188											
TP53	7157	broad.mit.edu	37	17	7578460	7578460	+	Missense_Mutation	SNP	A	A	T			TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr17:7578460A>T	ENST00000420246.2	-	5	602	c.470T>A	c.(469-471)gTc>gAc	p.V157D	TP53_ENST00000445888.2_Missense_Mutation_p.V157D|TP53_ENST00000413465.2_Missense_Mutation_p.V157D|TP53_ENST00000269305.4_Missense_Mutation_p.V157D|TP53_ENST00000455263.2_Missense_Mutation_p.V157D|TP53_ENST00000359597.4_Missense_Mutation_p.V157D	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	157	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		V -> A (in sporadic cancers; somatic mutation).|V -> D (in sporadic cancers; somatic mutation).|V -> F (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> I (in sporadic cancers; somatic mutation).|V -> L (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.V157D(8)|p.0?(8)|p.V157G(7)|p.R156_I162delRVRAMAI(2)|p.T155fs*23(2)|p.V157del(2)|p.V157fs*9(2)|p.P153fs*22(2)|p.V157fs*22(2)|p.V157_C176del20(1)|p.R156_A161delRVRAMA(1)|p.P151_V173del23(1)|p.R156_V157del(1)|p.V157A(1)|p.R156_R158delRVR(1)|p.R156fs*12(1)|p.R156fs*18(1)|p.R156_A161del(1)|p.V157_M160delVRAM(1)|p.D148fs*23(1)|p.V157_R158delVR(1)|p.S149fs*72(1)|p.T155_A161delTRVRAMA(1)|p.G154fs*22(1)|p.R156fs*20(1)|p.V157_I162delVRAMAI(1)|p.V157fs*21(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)		CATGGCGCGGACGCGGGTGCC	0.617		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)			49	11					0	0	1	0	0	T	7578460	A	T	7578460	3	4	392	1	0	0	0	0	1	0	0	0	16442	275	10	5	828	5	TP53	17	7578460	Missense_Mutation	SNP	A	TCGA-QH-A6X9-01A-12D-A32B-08	4477036	7578460	73616750	39	33189											
MYH4	4622	broad.mit.edu	37	17	10352347	10352347	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr17:10352347C>T	ENST00000255381.2	-	31	4309	c.4199G>A	c.(4198-4200)cGt>cAt	p.R1400H	RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1400					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						ATCCTGCAGACGCTGGGCTAG	0.463													8	16					0	0	1	0	0	T	10352347	C	T	10352347	3	4	392	1	0	0	0	0	1	0	0	0	10085	536	19	1	1660	1	MYH4	17	10352347	Missense_Mutation	SNP	C	TCGA-QH-A6X9-01A-12D-A32B-08	2773887	10352347	70842863	40	33190											
KRT15	3866	broad.mit.edu	37	17	39673193	39673193	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr17:39673193C>T	ENST00000254043.3	-	3	4190	c.605G>A	c.(604-606)cGc>cAc	p.R202H	KRT15_ENST00000393981.3_Missense_Mutation_p.R37H|KRT15_ENST00000393976.2_Missense_Mutation_p.R202H|KRT15_ENST00000393974.3_Missense_Mutation_p.R37H	NM_002275.3	NP_002266	P19012	K1C15_HUMAN	keratin 15	202	Coil 1B.|Rod.				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16		Breast(137;0.000286)				AACGCCCTGGCGCAGGGCCAG	0.602													6	58					0	0	1	0	0	T	39673193	C	T	39673193	3	4	392	1	0	0	0	0	1	0	0	0	8495	768	27	1	789	1	KRT15	17	39673193	Missense_Mutation	SNP	C	TCGA-QH-A6X9-01A-12D-A32B-08	29320846	39673193	41522017	41	33191											
SLC4A1	6521	broad.mit.edu	37	17	42335371	42335371	+	Missense_Mutation	SNP	G	G	T			TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr17:42335371G>T	ENST00000262418.6	-	11	1420	c.1265C>A	c.(1264-1266)aCc>aAc	p.T422N	AC003043.1_ENST00000597382.1_Intron	NM_000342.3	NP_000333.1	P02730	B3AT_HUMAN	solute carrier family 4 (anion exchanger), member 1	422	Membrane (anion exchange).				bicarbonate transport|cellular ion homeostasis	basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		GCCGCCGAAGGTGATGGCGGG	0.572													29	27					1.56442e-22	1.74847e-22	1	1	0	T	42335371	G	T	42335371	3	4	392	1	0	0	0	0	1	0	0	0	14705	1261	44	5	1510	5	SLC4A1	17	42335371	Missense_Mutation	SNP	G	TCGA-QH-A6X9-01A-12D-A32B-08	2662178	42335371	38859839	42	33192											
FECH	2235	broad.mit.edu	37	18	55238765	55238765	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr18:55238765C>T	ENST00000262093.5	-	4	473	c.322G>A	c.(322-324)Gca>Aca	p.A108T	FECH_ENST00000382873.3_Missense_Mutation_p.A114T|FECH_ENST00000585699.1_5'UTR	NM_000140.3|NM_001012515.2	NP_000131.2|NP_001012533.1	P22830	HEMH_HUMAN	ferrochelatase	108					generation of precursor metabolites and energy|heme biosynthetic process|protoporphyrinogen IX metabolic process|response to light stimulus	mitochondrial inner membrane|mitochondrial matrix	2 iron, 2 sulfur cluster binding|ferrochelatase activity|ferrous iron binding|protein binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	15		Colorectal(73;0.227)				ATGAATGGTGCCAGCTTACTA	0.423													5	63					0	0	1	0	0	T	55238765	C	T	55238765	3	4	392	1	0	0	0	0	1	0	0	0	5841	739	26	2	981	2	FECH	18	55238765	Missense_Mutation	SNP	C	TCGA-QH-A6X9-01A-12D-A32B-08		55238765	22838483	43	33193											
OAZ1	4946	broad.mit.edu	37	19	2273072	2273072	+	Missense_Mutation	SNP	T	T	C			TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr19:2273072T>C	ENST00000583542.4	+	6	750	c.676T>C	c.(676-678)Ttc>Ctc	p.F226L	OAZ1_ENST00000582888.4_Missense_Mutation_p.F216L|OAZ1_ENST00000588673.2_Missense_Mutation_p.F247L|OAZ1_ENST00000322297.4_Missense_Mutation_p.F217L|OAZ1_ENST00000602676.2_Missense_Mutation_p.F218L			P54368	OAZ1_HUMAN	ornithine decarboxylase antizyme 1						polyamine biosynthetic process|regulation of cellular amino acid metabolic process	cytosol	ornithine decarboxylase inhibitor activity			endometrium(1)|lung(2)	3		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)	L-Ornithine(DB00129)	GGCCTACACGTTCGAGAGAGA	0.637													5	5					0	0	1	0	0	C	2273072	T	C	2273072	3	2	392	1	0	0	0	0	1	0	0	0	10852	1725	60	3	671	3	OAZ1	19	2273072	Missense_Mutation	SNP	T	TCGA-QH-A6X9-01A-12D-A32B-08		2273072	56855911	44	33194											
HSH2D	84941	broad.mit.edu	37	19	16268157	16268157	+	Nonsense_Mutation	SNP	G	G	A			TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr19:16268157G>A	ENST00000593154.2	+	8	1143	c.612G>A	c.(610-612)tgG>tgA	p.W204*	HSH2D_ENST00000397372.4_Nonsense_Mutation_p.W115*|HSH2D_ENST00000253680.6_Nonsense_Mutation_p.W204*|HSH2D_ENST00000588246.1_Nonsense_Mutation_p.W204*	NM_032855.2	NP_116244.1	Q96JZ2	HSH2D_HUMAN	hematopoietic SH2 domain containing	204						cytoplasm|nucleus				central_nervous_system(1)|kidney(1)|large_intestine(2)	4						AGAAACTCTGGAGGAGCCTCA	0.562													16	32					0	0	1	0	0	A	16268157	G	A	16268157	4	1	392	1	0	0	0	0	0	1	0	0	7443	1183	41	2	630	2	HSH2D	19	16268157	Nonsense_Mutation	SNP	G	TCGA-QH-A6X9-01A-12D-A32B-08	13995085	16268157	42860826	45	33195											
FAM129C	199786	broad.mit.edu	37	19	17653073	17653073	+	Silent	SNP	C	C	T			TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr19:17653073C>T	ENST00000335393.4	+	11	1530	c.1392C>T	c.(1390-1392)ctC>ctT	p.L464L	FAM129C_ENST00000600871.1_Silent_p.L410L|FAM129C_ENST00000332386.5_Silent_p.L464L|FAM129C_ENST00000300971.2_Silent_p.L464L|FAM129C_ENST00000595684.1_Silent_p.L464L|FAM129C_ENST00000599124.1_Silent_p.L433L|FAM129C_ENST00000601861.1_Silent_p.L433L|FAM129C_ENST00000599164.1_Silent_p.L433L|FAM129C_ENST00000449408.2_Silent_p.L190L|FAM129C_ENST00000352727.3_Silent_p.L464L	NM_173544.4	NP_775815	Q86XR2	NIBL2_HUMAN	family with sequence similarity 129, member C	464								p.L464L(2)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(2)|lung(14)|ovary(1)|skin(3)|stomach(1)	33						TGCAGAGCCTCGTGTTTGGGG	0.627													64	82					0	0	1	0	0	T	17653073	C	T	17653073	2	4	392	1	0	0	0	0	0	0	0	1	5469	871	31	1		1	FAM129C	19	17653073	Silent	SNP	C	TCGA-QH-A6X9-01A-12D-A32B-08	1384916	17653073	41475910	46	33196											
DMPK	1760	broad.mit.edu	37	19	46274858	46274858	+	Missense_Mutation	SNP	C	C	A	rs145245565		TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr19:46274858C>A	ENST00000600757.1	-	11	2270	c.1583G>T	c.(1582-1584)cGg>cTg	p.R528L	DMPK_ENST00000458663.2_Missense_Mutation_p.R518L|DMPK_ENST00000291270.4_Missense_Mutation_p.R523L|AC074212.6_ENST00000586498.1_RNA|DMPK_ENST00000343373.4_Missense_Mutation_p.R533L|AC074212.6_ENST00000586251.1_RNA|DMPK_ENST00000447742.2_Missense_Mutation_p.R518L|AC074212.6_ENST00000590076.1_RNA|DMPK_ENST00000354227.5_Missense_Mutation_p.R518L|AC074212.6_ENST00000591530.1_RNA			Q09013	DMPK_HUMAN	dystrophia myotonica-protein kinase	533					regulation of heart contraction		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			endometrium(5)|kidney(1)|large_intestine(1)|lung(6)|stomach(1)|urinary_tract(2)	16		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00616)|GBM - Glioblastoma multiforme(486;0.0825)|Epithelial(262;0.24)		CAACTCCATCCGCTCCTGCAA	0.677													7	21					2.0095e-06	2.12114e-06	1	1	0	A	46274858	C	A	46274858	3	1	392	1	0	0	0	0	1	0	0	0	4612	652	23	5	344	5	DMPK	19	46274858	Missense_Mutation	SNP	C	TCGA-QH-A6X9-01A-12D-A32B-08	28621785	46274858	12854125	47	33197											
SIGLEC8	27181	broad.mit.edu	37	19	51961277	51961277	+	Missense_Mutation	SNP	T	T	C			TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr19:51961277T>C	ENST00000321424.3	-	1	431	c.365A>G	c.(364-366)tAt>tGt	p.Y122C	SIGLEC8_ENST00000430817.1_Missense_Mutation_p.Y122C|SIGLEC8_ENST00000340550.5_Missense_Mutation_p.Y122C	NM_014442.2	NP_055257.2	Q9NYZ4	SIGL8_HUMAN	sialic acid binding Ig-like lectin 8	122	Ig-like V-type.				cell adhesion	integral to membrane	sugar binding|transmembrane receptor activity			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		CCGAAAGAAATATGACCCCTT	0.498													55	27					0	0	1	0	0	C	51961277	T	C	51961277	3	2	392	1	0	0	0	0	1	0	0	0	14369	1406	49	3	1162	3	SIGLEC8	19	51961277	Missense_Mutation	SNP	T	TCGA-QH-A6X9-01A-12D-A32B-08	5686419	51961277	7167706	48	33198											
ZNF761	388561	broad.mit.edu	37	19	53958524	53958524	+	RNA	SNP	C	C	T			TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr19:53958524C>T	ENST00000454407.1	+	0	1216							Q86XN6	ZN761_HUMAN	zinc finger protein 761						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		TAATCAGAAGCGAAACCTAGC	0.408													50	31					0	0	1	0	0	T	53958524	C	T	53958524	1	4	392	0	1	0	0	0	0	0	0	0	18186	760	27	1		1	ZNF761	19	53958524	RNA	SNP	C	TCGA-QH-A6X9-01A-12D-A32B-08	1997247	53958524	5170459	49	33199											
CABIN1	23523	broad.mit.edu	37	22	24466846	24466846	+	Silent	SNP	G	G	A			TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr22:24466846G>A	ENST00000398319.2	+	17	2713	c.2328G>A	c.(2326-2328)gaG>gaA	p.E776E	CABIN1_ENST00000405822.2_Silent_p.E726E|CABIN1_ENST00000263119.5_Silent_p.E776E	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	776					cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						ACTCAGGTGAGGCTGCCGCCA	0.582													3	31					0	0	1	0	0	A	24466846	G	A	24466846	2	1	392	1	0	0	0	0	0	0	0	1	2546	991	35	2		2	CABIN1	22	24466846	Silent	SNP	G	TCGA-QH-A6X9-01A-12D-A32B-08		24466846	26837720	50	33200											
GGT5	2687	broad.mit.edu	37	22	24621346	24621346	+	Missense_Mutation	SNP	C	C	A			TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr22:24621346C>A	ENST00000327365.4	-	10	1786	c.1370G>T	c.(1369-1371)aGg>aTg	p.R457M	GGT5_ENST00000418439.2_Missense_Mutation_p.R381M|GGT5_ENST00000263112.7_Missense_Mutation_p.R425M|GGT5_ENST00000398292.3_Missense_Mutation_p.R458M	NM_001099781.1|NM_004121.2	NP_001093251.1|NP_004112.2	P36269	GGT5_HUMAN	gamma-glutamyltransferase 5	457					glutathione biosynthetic process|hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process	integral to membrane|plasma membrane	acyltransferase activity|gamma-glutamyltransferase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(3)|skin(3)	28						GGGCCAGCACCTTCCGGGAGC	0.617													36	47					3.76114e-14	4.1427e-14	1	1	0	A	24621346	C	A	24621346	3	1	392	1	0	0	0	0	1	0	0	0	6404	681	24	4	402	4	GGT5	22	24621346	Missense_Mutation	SNP	C	TCGA-QH-A6X9-01A-12D-A32B-08	154500	24621346	26683220	51	33201											
ADSL	158	broad.mit.edu	37	22	40761013	40761013	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr22:40761013G>A	ENST00000216194.7	+	12	1377	c.1321G>A	c.(1321-1323)Gat>Aat	p.D441N	ADSL_ENST00000342312.6_Intron|ADSL_ENST00000454266.2_Missense_Mutation_p.D455N	NM_000026.2	NP_000017.1	P30566	PUR8_HUMAN	adenylosuccinate lyase	441					AMP biosynthetic process|protein tetramerization|purine base metabolic process	cytosol	(S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity|N6-(1,2-dicarboxyethyl)AMP AMP-lyase (fumarate-forming) activity			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(2)|ovary(1)|prostate(1)	19						CTCCCAGTTGGATCATTTACT	0.517													5	83					0	0	1	0	0	A	40761013	G	A	40761013	3	1	392	1	0	0	0	0	1	0	0	0	345	1174	41	2	1367	2	ADSL	22	40761013	Missense_Mutation	SNP	G	TCGA-QH-A6X9-01A-12D-A32B-08	16139667	40761013	10543553	52	33202											
PTCHD1	139411	broad.mit.edu	37	X	23410783	23410783	+	Missense_Mutation	SNP	T	T	C			TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chrX:23410783T>C	ENST00000379361.4	+	3	2008	c.1148T>C	c.(1147-1149)cTg>cCg	p.L383P		NM_173495.2	NP_775766.2	Q96NR3	PTHD1_HUMAN	patched domain containing 1	383	SSD.				cognition|smoothened signaling pathway	integral to membrane|plasma membrane	hedgehog receptor activity			NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2)	42						GCCATGTACCTGGTCACCTTT	0.473													28	51					0	0	1	0	0	C	23410783	T	C	23410783	3	2	392	1	0	0	0	0	1	0	0	0	12781	1580	55	3	1158	3	PTCHD1	23	23410783	Missense_Mutation	SNP	T	TCGA-QH-A6X9-01A-12D-A32B-08		23410783	131859777	53	33203											
NYX	60506	broad.mit.edu	37	X	41333727	41333727	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chrX:41333727G>A	ENST00000342595.2	+	2	1477	c.1021G>A	c.(1021-1023)Gac>Aac	p.D341N	NYX_ENST00000378220.1_Missense_Mutation_p.D341N	NM_022567.2	NP_072089.1	Q9GZU5	NYX_HUMAN	nyctalopin	341	LRRCT.				response to stimulus|visual perception	intracellular|proteinaceous extracellular matrix				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(11)|upper_aerodigestive_tract(1)	17						GTGGTGCTGCGACTGCCGTCT	0.706													10	17					0	0	1	0	0	A	41333727	G	A	41333727	3	1	392	1	0	0	0	0	1	0	0	0	10845	1058	37	1	1027	1	NYX	23	41333727	Missense_Mutation	SNP	G	TCGA-QH-A6X9-01A-12D-A32B-08	17922944	41333727	113936833	54	33204											
ATRX	546	broad.mit.edu	37	X	76920172	76920173	+	Frame_Shift_Ins	INS	-	-	T			TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chrX:76920172_76920173insT	ENST00000373344.5	-	11	4118_4119	c.3904_3905insA	c.(3904-3906)agafs	p.R1302fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Ins_p.R1264fs	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1302					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.R1302fs*7(1)|p.?(1)|p.R1302fs*44(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)	TTTTCCAGTTCTTTTTTTCCCT	0.376			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						45	29	---	---	---	---						T	76920173	-	T	76920172	7	5	392	1	0	1	1	0	0	0	0	0	1206	913	32	0	3673	0	ATRX	23	76920172	Frame_Shift_Ins	INS	-	TCGA-QH-A6X9-01A-12D-A32B-08	35586445	76920172	78350388	55	33205											
BCORL1	63035	broad.mit.edu	37	X	129189971	129189971	+	Silent	SNP	C	C	T			TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chrX:129189971C>T	ENST00000540052.1	+	12	5040	c.4996C>T	c.(4996-4998)Ctg>Ttg	p.L1666L	BCORL1_ENST00000218147.7_Silent_p.L1666L|BCORL1_ENST00000303743.5_Silent_p.L1740L|BCORL1_ENST00000359304.2_Silent_p.L1536L	NM_021946.4	NP_068765	Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	1666					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						CAGTCAGCTGCTGACCCCTGC	0.617													53	88					0	0	1	0	0	T	129189971	C	T	129189971	2	4	392	1	0	0	0	0	0	0	0	1	1385	796	28	2		2	BCORL1	23	129189971	Silent	SNP	C	TCGA-QH-A6X9-01A-12D-A32B-08	52269799	129189971	26080589	56	33206											
MAGEC1	9947	broad.mit.edu	37	X	140993967	140993967	+	Silent	SNP	T	T	A			TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chrX:140993967T>A	ENST00000285879.4	+	4	1063	c.777T>A	c.(775-777)acT>acA	p.T259T	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	259							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					CTCAGAGTACTTTTGAGGGTT	0.502										HNSCC(15;0.026)			75	24					0	0	1	0	0	A	140993967	T	A	140993967	2	1	392	1	0	0	0	0	0	0	0	1	9230	1596	56	5		5	MAGEC1	23	140993967	Silent	SNP	T	TCGA-QH-A6X9-01A-12D-A32B-08	11803996	140993967	14276593	57	33207											
LAGE3	8270	broad.mit.edu	37	X	153707094	153707094	+	Missense_Mutation	SNP	C	C	A			TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chrX:153707094C>A	ENST00000357360.4	-	1	502	c.161G>T	c.(160-162)aGg>aTg	p.R54M	LAGE3_ENST00000407062.1_Missense_Mutation_p.R54M	NM_006014.4	NP_006005.2	Q14657	LAGE3_HUMAN	L antigen family, member 3	54							protein binding			lung(2)	2	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TCGTGACCCCCTGGCCGCAGA	0.721													3	12					0.115264	0.116801	1	1	0	A	153707094	C	A	153707094	3	1	392	1	0	0	0	0	1	0	0	0	8640	681	24	4	282	4	LAGE3	23	153707094	Missense_Mutation	SNP	C	TCGA-QH-A6X9-01A-12D-A32B-08	12713127	153707094	1563466	58	33208											
IL22RA1	58985	broad.mit.edu	37	1	24447579	24447579	+	Silent	SNP	G	G	A			TCGA-QH-A6XA-01A-12D-A32B-08	TCGA-QH-A6XA-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bc5a06c-d927-4b55-992c-ab8e1e9c42d7	c9701f2b-93ac-400d-a98a-feb72ad6f6ae	g.chr1:24447579G>A	ENST00000270800.1	-	7	1479	c.1441C>T	c.(1441-1443)Cta>Tta	p.L481L		NM_021258.3	NP_067081.2	Q8N6P7	I22R1_HUMAN	interleukin 22 receptor, alpha 1	481						integral to membrane	interferon receptor activity			breast(2)|endometrium(2)|large_intestine(4)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000992)|all_lung(284;0.00138)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-24)|Colorectal(126;6.43e-08)|COAD - Colon adenocarcinoma(152;3.51e-06)|GBM - Glioblastoma multiforme(114;5.06e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00911)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.148)		CCACTGTGTAGCACATTTGGG	0.567													25	50					0	0	1	0	0	A	24447579	G	A	24447579	2	1	393	1	0	0	0	0	0	0	0	1	7717	962	34	2		2	IL22RA1	1	24447579	Silent	SNP	G	TCGA-QH-A6XA-01A-12D-A32B-08		24447579	224803042	1	33209											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-QH-A6XA-01A-12D-A32B-08	TCGA-QH-A6XA-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bc5a06c-d927-4b55-992c-ab8e1e9c42d7	c9701f2b-93ac-400d-a98a-feb72ad6f6ae	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	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								15	25					0	0	1	0	0	T	209113112	C	T	209113112	3	4	393	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-QH-A6XA-01A-12D-A32B-08		209113112	34086261	2	33210											
NT5DC2	64943	broad.mit.edu	37	3	52563192	52563192	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A6XA-01A-12D-A32B-08	TCGA-QH-A6XA-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bc5a06c-d927-4b55-992c-ab8e1e9c42d7	c9701f2b-93ac-400d-a98a-feb72ad6f6ae	g.chr3:52563192G>A	ENST00000307076.4	-	2	680	c.280C>T	c.(280-282)Cgt>Tgt	p.R94C	NT5DC2_ENST00000490681.1_5'UTR|NT5DC2_ENST00000422318.2_Missense_Mutation_p.R131C|NT5DC2_ENST00000459839.1_Missense_Mutation_p.R131C|NT5DC2_ENST00000307092.4_Missense_Mutation_p.R60C	NM_022908.2	NP_075059.1	Q9H857	NT5D2_HUMAN	5'-nucleotidase domain containing 2	94							hydrolase activity|metal ion binding			endometrium(1)|lung(3)|prostate(1)|stomach(1)	6				BRCA - Breast invasive adenocarcinoma(193;1.7e-05)|Kidney(197;0.00177)|KIRC - Kidney renal clear cell carcinoma(197;0.002)|OV - Ovarian serous cystadenocarcinoma(275;0.0476)		AGGATGTCACGGGCGGTACTG	0.597													8	24					0	0	1	0	0	A	52563192	G	A	52563192	3	1	393	1	0	0	0	0	1	0	0	0	10739	1116	39	1	1334	1	NT5DC2	3	52563192	Missense_Mutation	SNP	G	TCGA-QH-A6XA-01A-12D-A32B-08		52563192	145459238	3	33211											
TTC37	9652	broad.mit.edu	37	5	94834107	94834107	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A6XA-01A-12D-A32B-08	TCGA-QH-A6XA-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bc5a06c-d927-4b55-992c-ab8e1e9c42d7	c9701f2b-93ac-400d-a98a-feb72ad6f6ae	g.chr5:94834107G>A	ENST00000358746.2	-	33	3828	c.3530C>T	c.(3529-3531)gCt>gTt	p.A1177V		NM_014639.3	NP_055454.1	Q6PGP7	TTC37_HUMAN	tetratricopeptide repeat domain 37	1177							binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	47						TTTTTGCACAGCCACACTGCG	0.393													13	107					0	0	1	0	0	A	94834107	G	A	94834107	3	1	393	1	0	0	0	0	1	0	0	0	16767	971	34	2	1208	2	TTC37	5	94834107	Missense_Mutation	SNP	G	TCGA-QH-A6XA-01A-12D-A32B-08		94834107	86081153	4	33212											
AVL9	23080	broad.mit.edu	37	7	32582854	32582854	+	Silent	SNP	C	C	T			TCGA-QH-A6XA-01A-12D-A32B-08	TCGA-QH-A6XA-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bc5a06c-d927-4b55-992c-ab8e1e9c42d7	c9701f2b-93ac-400d-a98a-feb72ad6f6ae	g.chr7:32582854C>T	ENST00000318709.4	+	2	416	c.195C>T	c.(193-195)ggC>ggT	p.G65G	AVL9_ENST00000409301.1_Silent_p.G65G|AVL9_ENST00000404479.1_Silent_p.G65G	NM_015060.1	NP_055875.1	Q8NBF6	AVL9_HUMAN	AVL9 homolog (S. cerevisiase)	65						integral to membrane		p.G65G(2)		endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						TACCAGATGGCGCACACAACT	0.423													4	110					0	0	1	0	0	T	32582854	C	T	32582854	2	4	393	1	0	0	0	0	0	0	0	1	1226	755	27	1		1	AVL9	7	32582854	Silent	SNP	C	TCGA-QH-A6XA-01A-12D-A32B-08		32582854	126555809	5	33213											
UNC5D	137970	broad.mit.edu	37	8	35563469	35563469	+	Frame_Shift_Del	DEL	A	A	-			TCGA-QH-A6XA-01A-12D-A32B-08	TCGA-QH-A6XA-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bc5a06c-d927-4b55-992c-ab8e1e9c42d7	c9701f2b-93ac-400d-a98a-feb72ad6f6ae	g.chr8:35563469delA	ENST00000287272.2	+	7	959	c.939delA	c.(937-939)atafs	p.I313fs	UNC5D_ENST00000420357.1_Intron|UNC5D_ENST00000404895.2_Frame_Shift_Del_p.I369fs|UNC5D_ENST00000416672.1_Frame_Shift_Del_p.I369fs|UNC5D_ENST00000453357.2_Frame_Shift_Del_p.I364fs			Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	369	TSP type-1 2.				apoptosis|axon guidance	integral to membrane	receptor activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		TTCATGAAATAAAACCCCAAA	0.289													2	4	---	---	---	---						-	35563469	A	-	35563469	7	5	393	1	0	1	0	1	0	0	0	0	17055	352	13	0	1137	0	UNC5D	8	35563469	Frame_Shift_Del	DEL	A	TCGA-QH-A6XA-01A-12D-A32B-08		35563469	110800553	6	33214											
POLB	5423	broad.mit.edu	37	8	42214719	42214719	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A6XA-01A-12D-A32B-08	TCGA-QH-A6XA-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bc5a06c-d927-4b55-992c-ab8e1e9c42d7	c9701f2b-93ac-400d-a98a-feb72ad6f6ae	g.chr8:42214719G>A	ENST00000265421.4	+	8	625	c.455G>A	c.(454-456)cGt>cAt	p.R152H	POLB_ENST00000538005.1_5'UTR	NM_002690.2	NP_002681.1	P06746	DPOLB_HUMAN	polymerase (DNA directed), beta	152					DNA-dependent DNA replication	cytoplasm|nucleoplasm|spindle microtubule	DNA-(apurinic or apyrimidinic site) lyase activity|DNA-directed DNA polymerase activity|enzyme binding|metal ion binding|microtubule binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(5)|ovary(1)	16	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;2.58e-12)|Lung NSC(13;4.24e-11)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.1)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	BRCA - Breast invasive adenocarcinoma(8;3.18e-11)|Lung(22;0.00467)|OV - Ovarian serous cystadenocarcinoma(14;0.00523)|LUSC - Lung squamous cell carcinoma(45;0.024)		Cytarabine(DB00987)	AGAATTCCTCGTGAAGAGATG	0.299								DNA polymerases (catalytic subunits)					18	26					0	0	1	0	0	A	42214719	G	A	42214719	3	1	393	1	0	0	0	0	1	0	0	0	12237	1145	40	1	485	1	POLB	8	42214719	Missense_Mutation	SNP	G	TCGA-QH-A6XA-01A-12D-A32B-08	6651250	42214719	104149303	7	33215											
OBP2A	29991	broad.mit.edu	37	9	138441168	138441168	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A6XA-01A-12D-A32B-08	TCGA-QH-A6XA-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bc5a06c-d927-4b55-992c-ab8e1e9c42d7	c9701f2b-93ac-400d-a98a-feb72ad6f6ae	g.chr9:138441168G>A	ENST00000539850.1	+	6	531	c.505G>A	c.(505-507)Gaa>Aaa	p.E169K	OBP2A_ENST00000371776.1_Missense_Mutation_p.E169K|OBP2A_ENST00000340780.3_Silent_p.S190S|OBP2A_ENST00000342114.4_Missense_Mutation_p.E146K			Q9NY56	OBP2A_HUMAN	odorant binding protein 2A	169					response to stimulus|sensory perception of smell	extracellular region	odorant binding|transporter activity			endometrium(1)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	11				OV - Ovarian serous cystadenocarcinoma(145;3.39e-07)|Epithelial(140;1.11e-06)|all cancers(34;2.04e-05)		CTGCGTTCTCGAACACTAGGG	0.612													11	51					0	0	1	0	0	A	138441168	G	A	138441168	3	1	393	1	0	0	0	0	1	0	0	0	10858	1059	37	1	527	1	OBP2A	9	138441168	Missense_Mutation	SNP	G	TCGA-QH-A6XA-01A-12D-A32B-08		138441168	2772263	8	33216											
LRP5	4041	broad.mit.edu	37	11	68177463	68177463	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A6XA-01A-12D-A32B-08	TCGA-QH-A6XA-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bc5a06c-d927-4b55-992c-ab8e1e9c42d7	c9701f2b-93ac-400d-a98a-feb72ad6f6ae	g.chr11:68177463G>A	ENST00000294304.7	+	10	2279	c.2173G>A	c.(2173-2175)Gtt>Att	p.V725I		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	725	Beta-propeller 3.				adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GGGCATGGCCGTTGACTGGAT	0.632													3	62					0	0	1	0	0	A	68177463	G	A	68177463	3	1	393	1	0	0	0	0	1	0	0	0	9005	1145	40	1	2211	1	LRP5	11	68177463	Missense_Mutation	SNP	G	TCGA-QH-A6XA-01A-12D-A32B-08		68177463	66829053	9	33217											
TSPAN8	7103	broad.mit.edu	37	12	71531789	71531789	+	Missense_Mutation	SNP	C	C	T	rs148575105		TCGA-QH-A6XA-01A-12D-A32B-08	TCGA-QH-A6XA-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bc5a06c-d927-4b55-992c-ab8e1e9c42d7	c9701f2b-93ac-400d-a98a-feb72ad6f6ae	g.chr12:71531789C>T	ENST00000393330.2	-	9	940	c.388G>A	c.(388-390)Gcc>Acc	p.A130T	TSPAN8_ENST00000552128.1_Missense_Mutation_p.A47T|TSPAN8_ENST00000546561.1_Missense_Mutation_p.A130T|TSPAN8_ENST00000247829.3_Missense_Mutation_p.A130T			P19075	TSN8_HUMAN	tetraspanin 8	130					protein glycosylation	integral to membrane|lysosome	signal transducer activity			breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(3)|lung(7)|skin(3)|urinary_tract(1)	19			LUSC - Lung squamous cell carcinoma(43;0.24)|OV - Ovarian serous cystadenocarcinoma(12;0.244)			TCCCCTGTGGCGCTCAAAAGC	0.343													36	53					0	0	1	0	0	T	71531789	C	T	71531789	3	4	393	1	0	0	0	0	1	0	0	0	16714	768	27	1	341	1	TSPAN8	12	71531789	Missense_Mutation	SNP	C	TCGA-QH-A6XA-01A-12D-A32B-08		71531789	62320106	10	33218											
SPPL3	121665	broad.mit.edu	37	12	121221497	121221497	+	Silent	SNP	T	T	C			TCGA-QH-A6XA-01A-12D-A32B-08	TCGA-QH-A6XA-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bc5a06c-d927-4b55-992c-ab8e1e9c42d7	c9701f2b-93ac-400d-a98a-feb72ad6f6ae	g.chr12:121221497T>C	ENST00000353487.2	-	5	872	c.369A>G	c.(367-369)agA>agG	p.R123R		NM_139015.4	NP_620584.2	Q8TCT6	PSL4_HUMAN	signal peptide peptidase like 3	124						integral to membrane	aspartic-type endopeptidase activity					all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					GTGAGCAGGGTCTTGTTAAAT	0.323													8	27					0	0	1	0	0	C	121221497	T	C	121221497	2	2	393	1	0	0	0	0	0	0	0	1	15146	1664	58	3		3	SPPL3	12	121221497	Silent	SNP	T	TCGA-QH-A6XA-01A-12D-A32B-08	49689708	121221497	12630398	11	33219											
TP53	7157	broad.mit.edu	37	17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	rs121913343		TCGA-QH-A6XA-01A-12D-A32B-08	TCGA-QH-A6XA-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bc5a06c-d927-4b55-992c-ab8e1e9c42d7	c9701f2b-93ac-400d-a98a-feb72ad6f6ae	g.chr17:7577121G>A	ENST00000420246.2	-	8	949	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000413465.2_Intron|TP53_ENST00000269305.4_Missense_Mutation_p.R273C|TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000445888.2_Missense_Mutation_p.R273C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	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).		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.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			17	5					0	0	1	0	0	A	7577121	G	A	7577121	3	1	393	1	0	0	0	0	1	0	0	0	16442	1087	38	1	469	1	TP53	17	7577121	Missense_Mutation	SNP	G	TCGA-QH-A6XA-01A-12D-A32B-08		7577121	73618089	12	33220											
C1QTNF1	114897	broad.mit.edu	37	17	77042695	77042695	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A6XA-01A-12D-A32B-08	TCGA-QH-A6XA-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bc5a06c-d927-4b55-992c-ab8e1e9c42d7	c9701f2b-93ac-400d-a98a-feb72ad6f6ae	g.chr17:77042695C>T	ENST00000339142.2	+	4	769	c.214C>T	c.(214-216)Cgg>Tgg	p.R72W	C1QTNF1_ENST00000583904.1_Missense_Mutation_p.R72W|C1QTNF1_ENST00000580474.1_Missense_Mutation_p.R72W|C1QTNF1_ENST00000392445.2_Missense_Mutation_p.R72W|C1QTNF1_ENST00000580454.1_Missense_Mutation_p.R72W|C1QTNF1_ENST00000581774.1_Missense_Mutation_p.R72W|C1QTNF1_ENST00000579760.1_Missense_Mutation_p.R72W|C1QTNF1_ENST00000311661.4_5'UTR|C1QTNF1_ENST00000578229.1_5'UTR|C1QTNF1_ENST00000354124.3_Missense_Mutation_p.R82W	NM_198593.3	NP_940995.1	Q9BXJ1	C1QT1_HUMAN	C1q and tumor necrosis factor related protein 1	72						collagen				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(2)	14			BRCA - Breast invasive adenocarcinoma(99;0.0294)|OV - Ovarian serous cystadenocarcinoma(97;0.201)			CCCTGCTTCCCGGTGCTTGCG	0.552											OREG0024791	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	29	70					0	0	1	0	0	T	77042695	C	T	77042695	3	4	393	1	0	0	0	0	1	0	0	0	1975	643	23	1	220	1	C1QTNF1	17	77042695	Missense_Mutation	SNP	C	TCGA-QH-A6XA-01A-12D-A32B-08	69465574	77042695	4152515	13	33221											
JPH2	57158	broad.mit.edu	37	20	42788536	42788536	+	Silent	SNP	G	G	A			TCGA-QH-A6XA-01A-12D-A32B-08	TCGA-QH-A6XA-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bc5a06c-d927-4b55-992c-ab8e1e9c42d7	c9701f2b-93ac-400d-a98a-feb72ad6f6ae	g.chr20:42788536G>A	ENST00000372980.3	-	2	1763	c.891C>T	c.(889-891)aaC>aaT	p.N297N		NM_020433.4	NP_065166.2	Q9BR39	JPH2_HUMAN	junctophilin 2	297					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane				NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			AGCGTTTGTCGTTCTTCCACT	0.687													5	10					0	0	1	0	0	A	42788536	G	A	42788536	2	1	393	1	0	0	0	0	0	0	0	1	8005	1136	40	1		1	JPH2	20	42788536	Silent	SNP	G	TCGA-QH-A6XA-01A-12D-A32B-08		42788536	20236984	14	33222											
BCOR	54880	broad.mit.edu	37	X	39933591	39933591	+	Silent	SNP	C	C	T			TCGA-QH-A6XA-01A-12D-A32B-08	TCGA-QH-A6XA-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bc5a06c-d927-4b55-992c-ab8e1e9c42d7	c9701f2b-93ac-400d-a98a-feb72ad6f6ae	g.chrX:39933591C>T	ENST00000342274.4	-	4	1370	c.1008G>A	c.(1006-1008)tcG>tcA	p.S336S	BCOR_ENST00000378444.4_Silent_p.S336S|BCOR_ENST00000397354.3_Silent_p.S336S|BCOR_ENST00000378455.4_Silent_p.S336S	NM_001123383.1	NP_001116855.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	336					heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						ACGGCCGAGGCGAGGGGGGCA	0.632			"F, N, S, T"	RARA	"retinoblastoma, AML, APL(translocation)"		oculo-facio-cardio-dental genetic						3	26					0	0	1	0	0	T	39933591	C	T	39933591	2	4	393	1	0	0	0	0	0	0	0	1	1384	755	27	1		1	BCOR	23	39933591	Silent	SNP	C	TCGA-QH-A6XA-01A-12D-A32B-08		39933591	115336969	15	33223											
ATRX	546	broad.mit.edu	37	X	76938114	76938114	+	Frame_Shift_Del	DEL	A	A	-			TCGA-QH-A6XA-01A-12D-A32B-08	TCGA-QH-A6XA-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bc5a06c-d927-4b55-992c-ab8e1e9c42d7	c9701f2b-93ac-400d-a98a-feb72ad6f6ae	g.chrX:76938114delA	ENST00000373344.5	-	9	2848	c.2634delT	c.(2632-2634)gatfs	p.D878fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.D840fs	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	878					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)	TTCTTTCAGCATCATCAGATG	0.388			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						149	191	---	---	---	---						-	76938114	A	-	76938114	7	5	393	1	0	1	0	1	0	0	0	0	1206	214	8	0	4952	0	ATRX	23	76938114	Frame_Shift_Del	DEL	A	TCGA-QH-A6XA-01A-12D-A32B-08	37004523	76938114	78332446	16	33224											
TIE1	7075	broad.mit.edu	37	1	43772556	43772556	+	Missense_Mutation	SNP	G	G	A	rs150406982		TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr1:43772556G>A	ENST00000372476.3	+	4	609	c.530G>A	c.(529-531)cGg>cAg	p.R177Q	TIE1_ENST00000538015.1_Missense_Mutation_p.R177Q|TIE1_ENST00000441333.2_Missense_Mutation_p.R177Q	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	177					mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CAGGATGGGCGGTTCCTGCTG	0.602													28	49					0	0	1	0	0	A	43772556	G	A	43772556	3	1	394	1	0	0	0	0	1	0	0	0	15953	1116	39	1	544	1	TIE1	1	43772556	Missense_Mutation	SNP	G	TCGA-QH-A6XC-01A-12D-A32B-08		43772556	205478065	1	33225											
CA14	23632	broad.mit.edu	37	1	150234987	150234987	+	Missense_Mutation	SNP	C	C	A			TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr1:150234987C>A	ENST00000369111.4	+	5	1433	c.463C>A	c.(463-465)Cag>Aag	p.Q155K		NM_012113.1	NP_036245.1	Q9ULX7	CAH14_HUMAN	carbonic anhydrase XIV	155						integral to membrane	carbonate dehydratase activity|metal ion binding			central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)	18	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			TGAGAGGCCTCAGGGCCTGGC	0.498													40	59					3.38236e-24	3.71505e-24	1	1	0	A	150234987	C	A	150234987	3	1	394	1	0	0	0	0	1	0	0	0	2533	827	29	5	481	5	CA14	1	150234987	Missense_Mutation	SNP	C	TCGA-QH-A6XC-01A-12D-A32B-08	106462431	150234987	99015634	2	33226											
JTB	10899	broad.mit.edu	37	1	153947216	153947216	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr1:153947216C>T	ENST00000271843.4	-	5	815	c.380G>A	c.(379-381)cGt>cAt	p.R127H	JTB_ENST00000356648.1_Missense_Mutation_p.R98H|JTB_ENST00000368589.1_Missense_Mutation_p.R98H	NM_006694.3	NP_006685.1	O76095	JTB_HUMAN	jumping translocation breakpoint	127					apoptosis|cell cycle cytokinesis|mitosis|positive regulation of protein kinase activity	integral to plasma membrane|membrane fraction|microtubule organizing center|midbody|mitochondrion|spindle	protein kinase binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)	10	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			TTGTCGCTGACGAATGATGAC	0.498													26	43					0	0	1	0	0	T	153947216	C	T	153947216	3	4	394	1	0	0	0	0	1	0	0	0	8011	536	19	1	64	1	JTB	1	153947216	Missense_Mutation	SNP	C	TCGA-QH-A6XC-01A-12D-A32B-08	3712229	153947216	95303405	3	33227											
SEMA4A	64218	broad.mit.edu	37	1	156144877	156144877	+	Splice_Site	SNP	G	G	A			TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr1:156144877G>A	ENST00000368285.3	+	13	1702	c.1435G>A	c.(1435-1437)Ggt>Agt	p.G479S	SEMA4A_ENST00000487358.1_3'UTR|SEMA4A_ENST00000368286.2_Splice_Site_p.G347S|SEMA4A_ENST00000368284.1_Splice_Site_p.G347S|SEMA4A_ENST00000368282.1_Splice_Site_p.G479S|SEMA4A_ENST00000355014.2_Splice_Site_p.G479S	NM_001193300.1|NM_022367.3	NP_001180229.1|NP_071762.2	Q9H3S1	SEM4A_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A	479	Sema.				axon guidance	integral to membrane|plasma membrane	receptor activity			breast(1)|ovary(2)|skin(2)	5	Hepatocellular(266;0.158)					TCTCTTCCAGGGTGCAGTGTT	0.607													46	85					0	0	1	0	0	A	156144877	G	A	156144877	5	1	394	1	0	0	0	0	0	0	1	0	14085	1246	43	2	1481	2	SEMA4A	1	156144877	Splice_Site	SNP	G	TCGA-QH-A6XC-01A-12D-A32B-08	2197661	156144877	93105744	4	33228											
SLC35F3	148641	broad.mit.edu	37	1	234452366	234452366	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr1:234452366G>A	ENST00000366618.3	+	5	992	c.847G>A	c.(847-849)Gcc>Acc	p.A283T	SLC35F3_ENST00000366617.3_Missense_Mutation_p.A214T	NM_173508.2	NP_775779.1	Q8IY50	S35F3_HUMAN	solute carrier family 35, member F3	214					transport	integral to membrane				breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|urinary_tract(1)	32	Ovarian(103;0.0454)	all_cancers(173;0.145)|Prostate(94;0.0885)	OV - Ovarian serous cystadenocarcinoma(106;0.00531)			CGCCATCCTCGCCATCGCTGG	0.577													165	221					0	0	1	0	0	A	234452366	G	A	234452366	3	1	394	1	0	0	0	0	1	0	0	0	14645	1087	38	1	865	1	SLC35F3	1	234452366	Missense_Mutation	SNP	G	TCGA-QH-A6XC-01A-12D-A32B-08	78307489	234452366	14798255	5	33229											
KIF26B	55083	broad.mit.edu	37	1	245862232	245862232	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr1:245862232G>A	ENST00000366518.4	+	11	5032	c.4928G>A	c.(4927-4929)cGc>cAc	p.R1643H	KIF26B_ENST00000407071.2_Missense_Mutation_p.R2024H			Q2KJY2	KI26B_HUMAN	kinesin family member 26B	2024					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	p.R2024H(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			CTGGAACACCGCCAGCAGAGG	0.572													17	31					0	0	1	0	0	A	245862232	G	A	245862232	3	1	394	1	0	0	0	0	1	0	0	0	8337	1087	38	1	6125	1	KIF26B	1	245862232	Missense_Mutation	SNP	G	TCGA-QH-A6XC-01A-12D-A32B-08	11409866	245862232	3388389	6	33230											
AGBL5	60509	broad.mit.edu	37	2	27278663	27278663	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr2:27278663G>A	ENST00000360131.4	+	7	1181	c.1022G>A	c.(1021-1023)cGt>cAt	p.R341H	AGBL5_ENST00000323064.8_Missense_Mutation_p.R341H	NM_021831.5	NP_068603.4	Q8NDL9	CBPC5_HUMAN	ATP/GTP binding protein-like 5	341					protein branching point deglutamylation|proteolysis	cytosol|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	28	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTGCACTCTCGTCTGAACTCC	0.542													24	42					0	0	1	0	0	A	27278663	G	A	27278663	3	1	394	1	0	0	0	0	1	0	0	0	375	1145	40	1	1044	1	AGBL5	2	27278663	Missense_Mutation	SNP	G	TCGA-QH-A6XC-01A-12D-A32B-08		27278663	215920710	7	33231											
LY75	4065	broad.mit.edu	37	2	160692107	160692107	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr2:160692107C>T	ENST00000263636.4	-	26	3584	c.3557G>A	c.(3556-3558)cGc>cAc	p.R1186H	LY75_ENST00000554112.1_Missense_Mutation_p.R1186H|LY75-CD302_ENST00000504764.1_Missense_Mutation_p.R1186H|LY75_ENST00000553424.1_Missense_Mutation_p.R1186H|LY75-CD302_ENST00000505052.1_Missense_Mutation_p.R1186H	NM_002349.3	NP_002340.2			lymphocyte antigen 75											NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59				COAD - Colon adenocarcinoma(177;0.132)		TTCAGCCCAGCGACTAAAATG	0.413													20	32					0	0	1	0	0	T	160692107	C	T	160692107	3	4	394	1	0	0	0	0	1	0	0	0	9145	768	27	1	1651	1	LY75	2	160692107	Missense_Mutation	SNP	C	TCGA-QH-A6XC-01A-12D-A32B-08	133413444	160692107	82507266	8	33232											
C2orf69	205327	broad.mit.edu	37	2	200790016	200790028	+	Frame_Shift_Del	DEL	ATGTTATTAGTTA	ATGTTATTAGTTA	-			TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr2:200790016_200790028delATGTTATTAGTTA	ENST00000319974.5	+	2	748_760	c.565_577delATGTTATTAGTTA	c.(565-579)atgttattagttaatfs	p.MLLVN189fs	C2orf69_ENST00000491721.1_Intron	NM_153689.5	NP_710156.3	Q8N8R5	CB069_HUMAN	chromosome 2 open reading frame 69	189						extracellular region		p.L191L(1)		central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(2)|stomach(1)|urinary_tract(1)	11						GCACCTTTATATGTTATTAGTTAATGCTTTTAA	0.338													30	26	---	---	---	---						-	200790028	ATGTTATTAGTTA	-	200790016	7	5	394	1	0	1	0	1	0	0	0	0	2202	449	16	0	571	0	C2orf69	2	200790016	Frame_Shift_Del	DEL	ATGTTATTAGTTA	TCGA-QH-A6XC-01A-12D-A32B-08	40097909	200790016	42409357	9	33233											
ZBTB11	27107	broad.mit.edu	37	3	101370258	101370258	+	Missense_Mutation	SNP	T	T	G			TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr3:101370258T>G	ENST00000312938.4	-	11	3494	c.2914A>C	c.(2914-2916)Atg>Ctg	p.M972L		NM_014415.3	NP_055230.2	O95625	ZBT11_HUMAN	zinc finger and BTB domain containing 11	972					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						TGTTCCTGCATGCCTGCTGTT	0.448													40	88					0	0	1	0	0	G	101370258	T	G	101370258	3	3	394	1	0	0	0	0	1	0	0	0	17583	1464	51	4	251	4	ZBTB11	3	101370258	Missense_Mutation	SNP	T	TCGA-QH-A6XC-01A-12D-A32B-08		101370258	96652172	10	33234											
TRAT1	50852	broad.mit.edu	37	3	108549621	108549621	+	Nonsense_Mutation	SNP	C	C	T	rs148894492		TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr3:108549621C>T	ENST00000295756.6	+	2	342	c.112C>T	c.(112-114)Cga>Tga	p.R38*	TRAT1_ENST00000493604.1_3'UTR|TRAT1_ENST00000426646.1_Intron	NM_016388.2	NP_057472.2	Q6PIZ9	TRAT1_HUMAN	T cell receptor associated transmembrane adaptor 1	38					cellular defense response|negative regulation of receptor recycling|negative regulation of transport|positive regulation of calcium-mediated signaling|positive regulation of T cell receptor signaling pathway|T cell receptor signaling pathway	integral to plasma membrane|T cell receptor complex	phosphatidylinositol-4,5-bisphosphate 3-kinase activity|transmembrane receptor protein tyrosine kinase adaptor activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(3)	28						GGAAAAGCAACGACAAGGTAA	0.418													24	42					0	0	1	0	0	T	108549621	C	T	108549621	4	4	394	1	0	0	0	0	0	1	0	0	16527	528	19	1	118	1	TRAT1	3	108549621	Nonsense_Mutation	SNP	C	TCGA-QH-A6XC-01A-12D-A32B-08	7179363	108549621	89472809	11	33235											
C4orf40	401137	broad.mit.edu	37	4	71024191	71024191	+	Silent	SNP	G	G	A			TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr4:71024191G>A	ENST00000344526.5	+	3	411	c.222G>A	c.(220-222)tcG>tcA	p.S74S	C4orf40_ENST00000502294.1_Silent_p.S74S|C4orf40_ENST00000502441.2_Intron	NM_214711.3	NP_999876.2	Q6MZM9	CD040_HUMAN	chromosome 4 open reading frame 40	74						extracellular region				breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						GGTTACCTTCGTATCCCTGGA	0.473													61	103					0	0	1	0	0	A	71024191	G	A	71024191	2	1	394	1	0	0	0	0	0	0	0	1	2284	1132	40	1		1	C4orf40	4	71024191	Silent	SNP	G	TCGA-QH-A6XC-01A-12D-A32B-08		71024191	120130085	12	33236											
LRBA	987	broad.mit.edu	37	4	151236737	151236737	+	Missense_Mutation	SNP	G	G	T			TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr4:151236737G>T	ENST00000535741.1	-	51	8142	c.7669C>A	c.(7669-7671)Cca>Aca	p.P2557T	LRBA_ENST00000503716.1_5'UTR|LRBA_ENST00000510413.1_Missense_Mutation_p.P2557T|LRBA_ENST00000507224.1_Missense_Mutation_p.P2557T|LRBA_ENST00000357115.3_Missense_Mutation_p.P2568T			P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	2568						endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					ATTTCCACTGGCAGCTGGTAT	0.383													12	29					3.27435e-08	3.3751e-08	1	1	0	T	151236737	G	T	151236737	3	4	394	1	0	0	0	0	1	0	0	0	8976	1203	42	5	917	5	LRBA	4	151236737	Missense_Mutation	SNP	G	TCGA-QH-A6XC-01A-12D-A32B-08	80212546	151236737	39917539	13	33237											
DCHS2	54798	broad.mit.edu	37	4	155176691	155176691	+	Silent	SNP	G	G	A			TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr4:155176691G>A	ENST00000357232.4	-	21	5555	c.5556C>T	c.(5554-5556)taC>taT	p.Y1852Y		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2		Cadherin 16.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		TGGTGAGCTCGTAATCTAGAA	0.443													18	23					0	0	1	0	0	A	155176691	G	A	155176691	2	1	394	1	0	0	0	0	0	0	0	1	4311	1140	40	1		1	DCHS2	4	155176691	Silent	SNP	G	TCGA-QH-A6XC-01A-12D-A32B-08	3939954	155176691	35977585	14	33238											
LRFN2	57497	broad.mit.edu	37	6	40359746	40359746	+	Missense_Mutation	SNP	C	C	A			TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr6:40359746C>A	ENST00000338305.6	-	3	2848	c.2306G>T	c.(2305-2307)aGt>aTt	p.S769I		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2	769						cell junction|integral to membrane|postsynaptic membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					CACCAGGTCACTCTCCTCAAA	0.642													17	35					3.51602e-12	3.68083e-12	1	1	0	A	40359746	C	A	40359746	3	1	394	1	0	0	0	0	1	0	0	0	8983	565	20	4	67	4	LRFN2	6	40359746	Missense_Mutation	SNP	C	TCGA-QH-A6XC-01A-12D-A32B-08		40359746	130755321	15	33239											
ROS1	6098	broad.mit.edu	37	6	117638325	117638325	+	Missense_Mutation	SNP	C	C	T	rs3752566	byFrequency	TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr6:117638325C>T	ENST00000368508.3	-	38	6314	c.6116G>A	c.(6115-6117)cGt>cAt	p.R2039H	ROS1_ENST00000368507.3_Missense_Mutation_p.R2033H	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	2039	Protein kinase.		R -> H (in dbSNP:rs3752566).		transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		CCGGGCTTTACGCAAATAAGT	0.403			T	"GOPC, SDC4, SLC34A2, EZR, LRIG3"	"glioblastoma, NSCLC"								22	44					0	0	1	0	0	T	117638325	C	T	117638325	3	4	394	1	0	0	0	0	1	0	0	0	13583	536	19	1	951	1	ROS1	6	117638325	Missense_Mutation	SNP	C	TCGA-QH-A6XC-01A-12D-A32B-08	77278579	117638325	53476742	16	33240											
HBS1L	10767	broad.mit.edu	37	6	135290403	135290403	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr6:135290403G>A	ENST00000367837.5	-	16	2077	c.1871C>T	c.(1870-1872)aCg>aTg	p.T624M	HBS1L_ENST00000367826.2_Missense_Mutation_p.T582M|HBS1L_ENST00000415177.2_Missense_Mutation_p.T559M|HBS1L_ENST00000367824.4_Missense_Mutation_p.T460M|HBS1L_ENST00000445176.2_Missense_Mutation_p.T348M|HBS1L_ENST00000527578.1_Missense_Mutation_p.T460M	NM_001145158.1|NM_006620.3	NP_001138630.1|NP_006611.1	Q9Y450	HBS1L_HUMAN	HBS1-like (S. cerevisiae)	624					signal transduction		GTP binding|GTPase activity|translation elongation factor activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	20	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.0046)|GBM - Glioblastoma multiforme(68;0.00702)		GACTTCACCCGTGCTTTTGTT	0.318													3	40					0	0	1	0	0	A	135290403	G	A	135290403	3	1	394	1	0	0	0	0	1	0	0	0	7028	1145	40	1	195	1	HBS1L	6	135290403	Missense_Mutation	SNP	G	TCGA-QH-A6XC-01A-12D-A32B-08	17652078	135290403	35824664	17	33241											
EGFR	1956	broad.mit.edu	37	7	55233043	55233043	+	Missense_Mutation	SNP	G	G	T	rs139236063		TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr7:55233043G>T	ENST00000275493.2	+	15	1970	c.1793G>T	c.(1792-1794)gGa>gTa	p.G598V	EGFR_ENST00000454757.2_Missense_Mutation_p.G545V|EGFR_ENST00000344576.2_Missense_Mutation_p.G598V|EGFR_ENST00000342916.3_Missense_Mutation_p.G598V|EGFR_ENST00000455089.1_Missense_Mutation_p.G553V|EGFR_ENST00000442591.1_Missense_Mutation_p.G598V	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	598					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.G598V(15)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	TGCCCGGCAGGAGTCATGGGA	0.567		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			1237	118					0	0	1	1	0	T	55233043	G	T	55233043	3	4	394	1	0	0	0	0	1	0	0	0	4993	1174	41	5	1862	5	EGFR	7	55233043	Missense_Mutation	SNP	G	TCGA-QH-A6XC-01A-12D-A32B-08		55233043	103905620	18	33242											
AKAP9	10142	broad.mit.edu	37	7	91727520	91727520	+	Missense_Mutation	SNP	G	G	T			TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr7:91727520G>T	ENST00000359028.2	+	43	10942	c.10717G>T	c.(10717-10719)Ggt>Tgt	p.G3573C	AKAP9_ENST00000358100.2_Missense_Mutation_p.G3519C|AKAP9_ENST00000356239.3_Missense_Mutation_p.G3569C			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	3573					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TGGCCAGCAAGGTGAAGAGGT	0.303			T	BRAF	papillary thyroid								11	49					0.000978159	0.00099298	1	1	0	T	91727520	G	T	91727520	3	4	394	1	0	0	0	0	1	0	0	0	456	1000	35	4	10875	4	AKAP9	7	91727520	Missense_Mutation	SNP	G	TCGA-QH-A6XC-01A-12D-A32B-08	36494477	91727520	67411143	19	33243											
COL1A2	1278	broad.mit.edu	37	7	94038132	94038132	+	Silent	SNP	C	C	T			TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr7:94038132C>T	ENST00000297268.6	+	16	1260	c.789C>T	c.(787-789)ccC>ccT	p.P263P		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	263					axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging	p.P263P(1)	COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	CCCCTGGCCCCAAGGTAAAAA	0.433										HNSCC(75;0.22)			11	54					0	0	1	0	0	T	94038132	C	T	94038132	2	4	394	1	0	0	0	0	0	0	0	1	3701	581	21	2		2	COL1A2	7	94038132	Silent	SNP	C	TCGA-QH-A6XC-01A-12D-A32B-08	2310612	94038132	65100531	20	33244											
RELN	5649	broad.mit.edu	37	7	103138353	103138353	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr7:103138353C>T	ENST00000424685.2	-	55	9023	c.8864G>A	c.(8863-8865)cGc>cAc	p.R2955H	RELN_ENST00000343529.5_Missense_Mutation_p.R2955H|RELN_ENST00000428762.1_Missense_Mutation_p.R2955H|CTB-107G13.1_ENST00000422488.1_RNA			P78509	RELN_HUMAN	reelin	2955					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		ACTACCGATGCGCCCCCAGTA	0.473													13	45					0	0	1	0	0	T	103138353	C	T	103138353	3	4	394	1	0	0	0	0	1	0	0	0	13272	768	27	1	1562	1	RELN	7	103138353	Missense_Mutation	SNP	C	TCGA-QH-A6XC-01A-12D-A32B-08	9100221	103138353	56000310	21	33245											
RELN	5649	broad.mit.edu	37	7	103629745	103629745	+	Missense_Mutation	SNP	G	G	A	rs145135688	byFrequency	TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr7:103629745G>A	ENST00000428762.1	-	1	218	c.59C>T	c.(58-60)aCg>aTg	p.T20M	RELN_ENST00000343529.5_Missense_Mutation_p.T20M|RELN_ENST00000424685.2_Missense_Mutation_p.T20M	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	20					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CGCCCTCAGCGTCGCCCCCAG	0.736													13	36					0	0	1	0	0	A	103629745	G	A	103629745	3	1	394	1	0	0	0	0	1	0	0	0	13272	1145	40	1	10583	1	RELN	7	103629745	Missense_Mutation	SNP	G	TCGA-QH-A6XC-01A-12D-A32B-08	491392	103629745	55508918	22	33246											
MKRN1	23608	broad.mit.edu	37	7	140154464	140154464	+	Silent	SNP	G	G	A	rs147839699	byFrequency	TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr7:140154464G>A	ENST00000255977.2	-	8	1526	c.1302C>T	c.(1300-1302)aaC>aaT	p.N434N	MKRN1_ENST00000437223.2_Silent_p.N168N|MKRN1_ENST00000474576.1_Silent_p.N370N	NM_013446.3	NP_038474.2	Q9UHC7	MKRN1_HUMAN	makorin ring finger protein 1	434							ligase activity|nucleic acid binding|protein binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	16	Melanoma(164;0.00956)					CTTCTTCATCGTTGTCAAAGG	0.498													16	41					0	0	1	0	0	A	140154464	G	A	140154464	2	1	394	1	0	0	0	0	0	0	0	1	9654	1136	40	1		1	MKRN1	7	140154464	Silent	SNP	G	TCGA-QH-A6XC-01A-12D-A32B-08	36524719	140154464	18984199	23	33247											
KEL	3792	broad.mit.edu	37	7	142658889	142658889	+	Missense_Mutation	SNP	C	C	A			TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr7:142658889C>A	ENST00000355265.2	-	2	548	c.74G>T	c.(73-75)aGc>aTc	p.S25I	KEL_ENST00000479768.2_5'UTR	NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	25					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)					TACCTCTTGGCTCCAGAGAGT	0.537													67	346					3.61678e-42	4.03874e-42	1	1	0	A	142658889	C	A	142658889	3	1	394	1	0	0	0	0	1	0	0	0	8185	797	28	4	2196	4	KEL	7	142658889	Missense_Mutation	SNP	C	TCGA-QH-A6XC-01A-12D-A32B-08	2504425	142658889	16479774	24	33248											
PRSS55	203074	broad.mit.edu	37	8	10388838	10388838	+	Silent	SNP	C	C	T	rs35035741		TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr8:10388838C>T	ENST00000328655.3	+	3	421	c.381C>T	c.(379-381)aaC>aaT	p.N127N	PRSS51_ENST00000523024.1_RNA|PRSS55_ENST00000522210.1_Silent_p.N127N	NM_198464.3	NP_940866.2	Q6UWB4	PRS55_HUMAN	protease, serine, 55	127	Peptidase S1.				proteolysis	integral to membrane	serine-type endopeptidase activity	p.N127N(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)	31						TGGGGACCAACGACTTAACTA	0.507													31	104					0	0	1	0	0	T	10388838	C	T	10388838	2	4	394	1	0	0	0	0	0	0	0	1	12683	535	19	1		1	PRSS55	8	10388838	Silent	SNP	C	TCGA-QH-A6XC-01A-12D-A32B-08		10388838	135975184	25	33249											
TLN1	7094	broad.mit.edu	37	9	35724224	35724224	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr9:35724224G>A	ENST00000314888.9	-	6	972	c.619C>T	c.(619-621)Cgg>Tgg	p.R207W	TLN1_ENST00000540444.1_Missense_Mutation_p.R207W	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	207	FERM.				axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			ACAGGGTCCCGGGAATCCACA	0.587													3	46					0	0	1	0	0	A	35724224	G	A	35724224	3	1	394	1	0	0	0	0	1	0	0	0	16007	1115	39	1	7214	1	TLN1	9	35724224	Missense_Mutation	SNP	G	TCGA-QH-A6XC-01A-12D-A32B-08		35724224	105489207	26	33250											
TRPM6	140803	broad.mit.edu	37	9	77415326	77415326	+	Silent	SNP	C	C	T			TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr9:77415326C>T	ENST00000451710.3	-	17	2319	c.2082G>A	c.(2080-2082)ctG>ctA	p.L694L	TRPM6_ENST00000360774.1_Silent_p.L694L|TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000361255.3_Silent_p.L689L|TRPM6_ENST00000449912.2_Silent_p.L689L|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000376864.4_Silent_p.L694L			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	694					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						CATACGTCAACAGCGTCATGG	0.507													16	37					0	0	1	0	0	T	77415326	C	T	77415326	2	4	394	1	0	0	0	0	0	0	0	1	16651	465	17	2		2	TRPM6	9	77415326	Silent	SNP	C	TCGA-QH-A6XC-01A-12D-A32B-08	41691102	77415326	63798105	27	33251											
CLIC3	9022	broad.mit.edu	37	9	139889191	139889191	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr9:139889191G>A	ENST00000494426.1	-	6	912	c.653C>T	c.(652-654)aCg>aTg	p.T218M	CLIC3_ENST00000480181.1_5'UTR	NM_004669.2	NP_004660.2	O95833	CLIC3_HUMAN	chloride intracellular channel 3	218	GST C-terminal.				signal transduction	chloride channel complex|cytoplasm|nucleus	protein binding|voltage-gated chloride channel activity			lung(1)|skin(1)	2	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		GTGCGGACACGTGTATTTGAA	0.682													6	8					0	0	1	0	0	A	139889191	G	A	139889191	3	1	394	1	0	0	0	0	1	0	0	0	3550	1145	40	1	61	1	CLIC3	9	139889191	Missense_Mutation	SNP	G	TCGA-QH-A6XC-01A-12D-A32B-08	62473865	139889191	1324240	28	33252											
A1CF	29974	broad.mit.edu	37	10	52575967	52575967	+	Nonsense_Mutation	SNP	G	G	A			TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr10:52575967G>A	ENST00000374001.2	-	8	1079	c.940C>T	c.(940-942)Cga>Tga	p.R314*	A1CF_ENST00000493415.1_5'UTR|A1CF_ENST00000395495.1_Nonsense_Mutation_p.R259*|ASAH2B_ENST00000483649.1_Intron|A1CF_ENST00000373997.3_Nonsense_Mutation_p.R314*|A1CF_ENST00000373993.1_Nonsense_Mutation_p.R314*|A1CF_ENST00000395489.2_Nonsense_Mutation_p.R307*|A1CF_ENST00000373995.3_Nonsense_Mutation_p.R322*|A1CF_ENST00000282641.2_Nonsense_Mutation_p.R314*			Q9NQ94	A1CF_HUMAN	APOBEC1 complementation factor						cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						CCTGTGCCTCGGGTATACCTA	0.493													10	12					0	0	1	0	0	A	52575967	G	A	52575967	4	1	394	1	0	0	0	0	0	1	0	0	2	1124	39	1	864	1	A1CF	10	52575967	Nonsense_Mutation	SNP	G	TCGA-QH-A6XC-01A-12D-A32B-08		52575967	82958780	29	33253											
KIF20B	9585	broad.mit.edu	37	10	91486211	91486211	+	Silent	SNP	A	A	G			TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr10:91486211A>G	ENST00000416354.1	+	16	2235	c.2163A>G	c.(2161-2163)aaA>aaG	p.K721K	KIF20B_ENST00000478929.1_3'UTR|KIF20B_ENST00000394289.2_Silent_p.K721K|KIF20B_ENST00000371728.3_Silent_p.K721K|KIF20B_ENST00000260753.4_Silent_p.K681K			Q96Q89	KI20B_HUMAN	kinesin family member 20B	721					cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis	centrosome|microtubule|nucleolus|nucleoplasm|spindle	ATP binding|ATPase activity|microtubule motor activity|WW domain binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						ATCAAATTAAAGCTGAATTAG	0.303													5	6					0	0	1	0	0	G	91486211	A	G	91486211	2	3	394	1	0	0	0	0	0	0	0	1	8329	69	3	3		3	KIF20B	10	91486211	Silent	SNP	A	TCGA-QH-A6XC-01A-12D-A32B-08	38910244	91486211	44048536	30	33254											
LUZP2	338645	broad.mit.edu	37	11	24936025	24936025	+	Missense_Mutation	SNP	A	A	G			TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr11:24936025A>G	ENST00000533227.1	+	7	492	c.205A>G	c.(205-207)Aaa>Gaa	p.K69E	LUZP2_ENST00000336930.6_Missense_Mutation_p.K155E	NM_001009909.3|NM_001252008.1	NP_001009909.2|NP_001238937.1	Q86TE4	LUZP2_HUMAN	leucine zipper protein 2	155						extracellular region				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(11)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	32						CTTACAGTCAAAAAAAATCCA	0.348													18	24					0	0	1	0	0	G	24936025	A	G	24936025	3	3	394	1	0	0	0	0	1	0	0	0	9132	15	1	3	489	3	LUZP2	11	24936025	Missense_Mutation	SNP	A	TCGA-QH-A6XC-01A-12D-A32B-08		24936025	110070491	31	33255											
MTMR2	8898	broad.mit.edu	37	11	95569452	95569453	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr11:95569452_95569453delTG	ENST00000393223.3	-	16	2075_2076	c.1413_1414delCA	c.(1411-1416)tacatafs	p.I472fs	MTMR2_ENST00000409459.1_Frame_Shift_Del_p.I472fs|MTMR2_ENST00000346299.5_Frame_Shift_Del_p.I544fs|MTMR2_ENST00000352297.7_Frame_Shift_Del_p.I472fs	NM_001243571.1|NM_201278.2	NP_001230500.1|NP_958435.1	Q13614	MTMR2_HUMAN	myotubularin related protein 2	544	Myotubularin phosphatase.					nucleus	inositol or phosphatidylinositol phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.Y471Y(1)		autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	19		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				TGGCTGTTTATGTAAGACCACA	0.431													53	72	---	---	---	---						-	95569453	TG	-	95569452	7	5	394	1	0	1	0	1	0	0	0	0	9992	1464	51	0	309	0	MTMR2	11	95569452	Frame_Shift_Del	DEL	TG	TCGA-QH-A6XC-01A-12D-A32B-08	70633427	95569452	39437064	32	33256											
CLEC9A	283420	broad.mit.edu	37	12	10218182	10218182	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr12:10218182C>T	ENST00000355819.1	+	9	1290	c.677C>T	c.(676-678)aCg>aTg	p.T226M		NM_207345.2	NP_997228.1	Q6UXN8	CLC9A_HUMAN	C-type lectin domain family 9, member A	226	C-type lectin.				positive regulation of cytokine secretion|receptor-mediated endocytosis	cell surface|integral to membrane	receptor activity|sugar binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	22						AACTGCAGCACGTGGAAGTAT	0.423													31	55					0	0	1	0	0	T	10218182	C	T	10218182	3	4	394	1	0	0	0	0	1	0	0	0	3545	536	19	1	699	1	CLEC9A	12	10218182	Missense_Mutation	SNP	C	TCGA-QH-A6XC-01A-12D-A32B-08		10218182	123633713	33	33257											
GLS2	27165	broad.mit.edu	37	12	56873645	56873645	+	Missense_Mutation	SNP	A	A	C			TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr12:56873645A>C	ENST00000311966.4	-	3	601	c.323T>G	c.(322-324)cTc>cGc	p.L108R	GLS2_ENST00000539272.1_Missense_Mutation_p.L108R	NM_013267.2	NP_037399.2	Q9UI32	GLSL_HUMAN	glutaminase 2 (liver, mitochondrial)	108					cellular amino acid biosynthetic process|glutamate secretion|glutamine metabolic process|neurotransmitter secretion	mitochondrial matrix	glutaminase activity|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	13					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	GCAGTCTCGGAGCCGAGGATC	0.537													9	30					0	0	1	0	0	C	56873645	A	C	56873645	3	2	394	1	0	0	0	0	1	0	0	0	6506	304	11	5	1549	5	GLS2	12	56873645	Missense_Mutation	SNP	A	TCGA-QH-A6XC-01A-12D-A32B-08	46655463	56873645	76978250	34	33258											
NID2	22795	broad.mit.edu	37	14	52535572	52535572	+	Silent	SNP	G	G	C			TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr14:52535572G>C	ENST00000216286.5	-	1	140	c.141C>G	c.(139-141)ctC>ctG	p.L47L	NID2_ENST00000541773.1_Intron	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	47						basement membrane	calcium ion binding|collagen binding			NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					CTTCCTGCAGGAGCTGGTCCC	0.622													22	45					0	0	1	0	0	C	52535572	G	C	52535572	2	2	394	1	0	0	0	0	0	0	0	1	10462	1161	41	5		5	NID2	14	52535572	Silent	SNP	G	TCGA-QH-A6XC-01A-12D-A32B-08		52535572	54813968	35	33259											
SETD3	84193	broad.mit.edu	37	14	99871554	99871554	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr14:99871554G>A	ENST00000331768.5	-	10	1238	c.1079C>T	c.(1078-1080)gCc>gTc	p.A360V		NM_032233.2	NP_115609.2	Q86TU7	SETD3_HUMAN	SET domain containing 3	360					peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|peptidyl-lysine trimethylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone methyltransferase activity (H3-K36 specific)|transcription coactivator activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25		all_cancers(154;0.224)|all_epithelial(191;0.0644)|Melanoma(154;0.0866)				GGGGATGCCGGCACGAGCCAA	0.428													4	174					0	0	1	0	0	A	99871554	G	A	99871554	3	1	394	1	0	0	0	0	1	0	0	0	14186	1203	42	2	721	2	SETD3	14	99871554	Missense_Mutation	SNP	G	TCGA-QH-A6XC-01A-12D-A32B-08	47335982	99871554	7477986	36	33260											
HERC1	8925	broad.mit.edu	37	15	63970180	63970180	+	Nonsense_Mutation	SNP	C	C	A			TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr15:63970180C>A	ENST00000443617.2	-	37	7021	c.6934G>T	c.(6934-6936)Gga>Tga	p.G2312*	RP11-317G6.1_ENST00000559303.2_RNA	NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	2312					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						GCATCAACTCCTCCTATCACA	0.562													27	44					5.61819e-17	6.07127e-17	1	1	0	A	63970180	C	A	63970180	4	1	394	1	0	0	0	0	0	1	0	0	7098	690	24	4	7819	4	HERC1	15	63970180	Nonsense_Mutation	SNP	C	TCGA-QH-A6XC-01A-12D-A32B-08		63970180	38561212	37	33261											
ZC3H18	124245	broad.mit.edu	37	16	88695241	88695241	+	Frame_Shift_Del	DEL	C	C	-			TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr16:88695241delC	ENST00000301011.5	+	16	2745	c.2545delC	c.(2545-2547)cccfs	p.P849fs	ZC3H18_ENST00000452588.2_Frame_Shift_Del_p.P873fs	NM_144604.3	NP_653205.3	Q86VM9	ZCH18_HUMAN	zinc finger CCCH-type containing 18	849						nucleus	nucleic acid binding|zinc ion binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42				BRCA - Breast invasive adenocarcinoma(80;0.0542)		AGCCAAGCGGCCCAACACATC	0.642													40	83	---	---	---	---						-	88695241	C	-	88695241	7	5	394	1	0	1	0	1	0	0	0	0	17627	739	26	0	2603	0	ZC3H18	16	88695241	Frame_Shift_Del	DEL	C	TCGA-QH-A6XC-01A-12D-A32B-08		88695241	1659512	38	33262											
SPNS3	201305	broad.mit.edu	37	17	4352564	4352564	+	Missense_Mutation	SNP	G	G	A	rs147966930	byFrequency	TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr17:4352564G>A	ENST00000355530.2	+	7	1085	c.805G>A	c.(805-807)Gcc>Acc	p.A269T	SPNS3_ENST00000576069.1_Intron|SPNS3_ENST00000333476.2_Missense_Mutation_p.A142T	NM_182538.4	NP_872344.3	Q6ZMD2	SPNS3_HUMAN	spinster homolog 3 (Drosophila)	269					lipid transport|transmembrane transport	integral to membrane				NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(6)|stomach(2)	28						CGGAGTGACCGCCATGGCCTT	0.657													19	90					0	0	1	0	0	A	4352564	G	A	4352564	3	1	394	1	0	0	0	0	1	0	0	0	15132	1087	38	1	831	1	SPNS3	17	4352564	Missense_Mutation	SNP	G	TCGA-QH-A6XC-01A-12D-A32B-08		4352564	76842646	39	33263											
ZNF594	84622	broad.mit.edu	37	17	5085347	5085348	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr17:5085347_5085348delAA	ENST00000399604.4	-	1	2344_2345	c.2204_2205delTT	c.(2203-2205)cttfs	p.L735fs	ZNF594_ENST00000575779.1_Frame_Shift_Del_p.L735fs			Q96JF6	ZN594_HUMAN	zinc finger protein 594	735					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						CACATTCTTCAAGTTTCTCTCC	0.426													93	156	---	---	---	---						-	5085348	AA	-	5085347	7	5	394	1	0	1	0	1	0	0	0	0	18081	117	5	0	222	0	ZNF594	17	5085347	Frame_Shift_Del	DEL	AA	TCGA-QH-A6XC-01A-12D-A32B-08	732783	5085347	76109863	40	33264											
DNAH2	146754	broad.mit.edu	37	17	7710584	7710584	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr17:7710584G>A	ENST00000572933.1	+	62	11019	c.9559G>A	c.(9559-9561)Ggc>Agc	p.G3187S	DNAH2_ENST00000389173.2_Missense_Mutation_p.G3187S			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	3187	Stalk (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TGATATCATCGGCCGCGTCTC	0.587													41	65					0	0	1	0	0	A	7710584	G	A	7710584	3	1	394	1	0	0	0	0	1	0	0	0	4630	1116	39	1	9801	1	DNAH2	17	7710584	Missense_Mutation	SNP	G	TCGA-QH-A6XC-01A-12D-A32B-08	2625237	7710584	73484626	41	33265											
GAS7	8522	broad.mit.edu	37	17	9829985	9829985	+	Silent	SNP	G	G	A			TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr17:9829985G>A	ENST00000323816.4	-	11	969	c.807C>T	c.(805-807)ctC>ctT	p.L269L	GAS7_ENST00000437099.2_Silent_p.L265L|GAS7_ENST00000585266.1_Silent_p.L269L|GAS7_ENST00000583882.1_Intron|GAS7_ENST00000396115.2_Intron|GAS7_ENST00000432992.2_Silent_p.L329L|GAS7_ENST00000579158.1_Silent_p.L265L|GAS7_ENST00000580865.1_Silent_p.L189L|GAS7_ENST00000540214.1_Intron|GAS7_ENST00000542249.1_Silent_p.L265L			O60861	GAS7_HUMAN	growth arrest-specific 7	333	FCH.				cell cycle arrest	cytoplasm	sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(7)|lung(18)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	39						AGCGGCTGGCGAGCTGCTTGC	0.602			T	MLL	AML*								19	36					0	0	1	0	0	A	9829985	G	A	9829985	2	1	394	1	0	0	0	0	0	0	0	1	6290	1045	37	1		1	GAS7	17	9829985	Silent	SNP	G	TCGA-QH-A6XC-01A-12D-A32B-08	2119401	9829985	71365225	42	33266											
MYH13	8735	broad.mit.edu	37	17	10248578	10248578	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr17:10248578C>T	ENST00000418404.3	-	14	1688	c.1525G>A	c.(1525-1527)Gag>Aag	p.E509K	MYH13_ENST00000252172.4_Missense_Mutation_p.E509K			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	509	Myosin head-like.				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						AACTCCCACTCGATGCCTTCC	0.512													38	64					0	0	1	0	0	T	10248578	C	T	10248578	3	4	394	1	0	0	0	0	1	0	0	0	10080	893	31	1	4399	1	MYH13	17	10248578	Missense_Mutation	SNP	C	TCGA-QH-A6XC-01A-12D-A32B-08	418593	10248578	70946632	43	33267											
CACNA1G	8913	broad.mit.edu	37	17	48683269	48683269	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr17:48683269G>A	ENST00000352832.5	+	22	4610	c.4238G>A	c.(4237-4239)gGg>gAg	p.G1413E	CACNA1G_ENST00000502264.1_Missense_Mutation_p.G1413E|CACNA1G_ENST00000360761.4_Missense_Mutation_p.G1413E|CACNA1G_ENST00000358244.5_Missense_Mutation_p.G1413E|CACNA1G_ENST00000515765.1_Missense_Mutation_p.G1436E|CACNA1G_ENST00000510366.1_Missense_Mutation_p.G1436E|CACNA1G_ENST00000429973.2_Missense_Mutation_p.G1436E|CACNA1G_ENST00000514181.1_Missense_Mutation_p.G1436E|CACNA1G_ENST00000510115.1_Missense_Mutation_p.G1413E|CACNA1G_ENST00000442258.2_Missense_Mutation_p.G1413E|CACNA1G_ENST00000505165.1_Missense_Mutation_p.G1436E|CACNA1G_ENST00000359106.5_Missense_Mutation_p.G1436E|CACNA1G_ENST00000507896.1_Missense_Mutation_p.G1436E|CACNA1G_ENST00000507510.2_Missense_Mutation_p.G1436E|CACNA1G_ENST00000515165.1_Missense_Mutation_p.G1436E|CACNA1G_ENST00000503485.1_Missense_Mutation_p.G1436E|CACNA1G_ENST00000416767.4_Missense_Mutation_p.G1436E|CACNA1G_ENST00000514717.1_Missense_Mutation_p.G1413E|CACNA1G_ENST00000514079.1_Missense_Mutation_p.G1436E|CACNA1G_ENST00000512389.1_Missense_Mutation_p.G1436E|CACNA1G_ENST00000513964.1_Missense_Mutation_p.G1436E|CACNA1G_ENST00000507609.1_Missense_Mutation_p.G1436E|CACNA1G_ENST00000513689.2_Missense_Mutation_p.G1436E|CACNA1G_ENST00000354983.4_Missense_Mutation_p.G1413E|CACNA1G_ENST00000507336.1_Missense_Mutation_p.G1436E|CACNA1G_ENST00000515411.1_Missense_Mutation_p.G1436E	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	1436					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	CTCTTCAAAGGGAAGTTTTTC	0.567													8	28					0	0	1	0	0	A	48683269	G	A	48683269	3	1	394	1	0	0	0	0	1	0	0	0	2562	1232	43	2	4397	2	CACNA1G	17	48683269	Missense_Mutation	SNP	G	TCGA-QH-A6XC-01A-12D-A32B-08	38434691	48683269	32511941	44	33268											
STXBP4	252983	broad.mit.edu	37	17	53150436	53150439	+	Splice_Site	DEL	AAGT	AAGT	-			TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr17:53150436_53150439delAAGT	ENST00000376352.2	+	13	1394_1395	c.1187_1188delAAGT	c.(1186-1188)aaa>a	p.K396fs	STXBP4_ENST00000434978.2_Splice_Site_p.K374fs	NM_178509.5	NP_848604.3	Q6ZWJ1	STXB4_HUMAN	syntaxin binding protein 4	396						cytoplasm	calcium ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(4)|ovary(1)|upper_aerodigestive_tract(2)	19						GACCAAAATAAAGTAAGCAAAGCA	0.407													32	38	---	---	---	---						-	53150439	AAGT	-	53150436	8	5	394	1	0	1	0	1	0	0	1	0	15411	28	1	0	1229	0	STXBP4	17	53150436	Splice_Site	DEL	AAGT	TCGA-QH-A6XC-01A-12D-A32B-08	4467167	53150436	28044774	45	33269											
LAMA1	284217	broad.mit.edu	37	18	6985310	6985310	+	Missense_Mutation	SNP	C	C	A			TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr18:6985310C>A	ENST00000389658.3	-	39	5679	c.5586G>T	c.(5584-5586)agG>agT	p.R1862S		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	1862	Domain II and I.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CGACTGCGTTCCTTTGGGACA	0.502													26	43					6.32553e-13	6.72715e-13	1	1	0	A	6985310	C	A	6985310	3	1	394	1	0	0	0	0	1	0	0	0	8644	854	30	5	3741	5	LAMA1	18	6985310	Missense_Mutation	SNP	C	TCGA-QH-A6XC-01A-12D-A32B-08		6985310	71091938	46	33270											
DSC3	1825	broad.mit.edu	37	18	28598767	28598767	+	Splice_Site	SNP	C	C	T			TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr18:28598767C>T	ENST00000434452.1	-	8	1097		c.e8-1		DSC3_ENST00000360428.4_Splice_Site	NM_024423.2	NP_077741.2	Q14574	DSC3_HUMAN	desmocollin 3						homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			TGTCTACAACCTGGAAACAAA	0.333													16	36					0	0	1	0	0	T	28598767	C	T	28598767	5	4	394	1	0	0	0	0	0	0	1	0	4793	695	24	2	1815	2	DSC3	18	28598767	Splice_Site	SNP	C	TCGA-QH-A6XC-01A-12D-A32B-08	21613457	28598767	49478481	47	33271											
DCC	1630	broad.mit.edu	37	18	51013239	51013239	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr18:51013239G>A	ENST00000442544.2	+	26	4425	c.3809G>A	c.(3808-3810)tGt>tAt	p.C1270Y	RP11-671P2.1_ENST00000582064.1_RNA|DCC_ENST00000581580.1_Missense_Mutation_p.C905Y	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	1270					apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		TCTCCCACCTGTGGATATCCC	0.542													33	68					0	0	1	0	0	A	51013239	G	A	51013239	3	1	394	1	0	0	0	0	1	0	0	0	4305	1377	48	2	3911	2	DCC	18	51013239	Missense_Mutation	SNP	G	TCGA-QH-A6XC-01A-12D-A32B-08	22414472	51013239	27064009	48	33272											
PSG7	5676	broad.mit.edu	37	19	43433784	43433784	+	RNA	SNP	A	A	G			TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr19:43433784A>G	ENST00000446844.3	-	0	608				PSG7_ENST00000406070.2_RNA			Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy	extracellular region							Prostate(69;0.00682)				TTGCATCTGGAGTCTCAGGAT	0.527													98	230					0	0	1	0	0	G	43433784	A	G	43433784	1	3	394	0	1	0	0	0	0	0	0	0	12709	291	11	3		3	PSG7	19	43433784	RNA	SNP	A	TCGA-QH-A6XC-01A-12D-A32B-08		43433784	15695199	49	33273											
KLK5	25818	broad.mit.edu	37	19	51453167	51453167	+	Silent	SNP	G	G	A			TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr19:51453167G>A	ENST00000336334.3	-	3	631	c.279C>T	c.(277-279)tgC>tgT	p.C93C	KLK5_ENST00000593428.1_Silent_p.C93C|KLK5_ENST00000391809.2_Silent_p.C93C	NM_012427.4	NP_036559	Q9Y337	KLK5_HUMAN	kallikrein-related peptidase 5	93	Peptidase S1.				epidermis development|positive regulation of G-protein coupled receptor protein signaling pathway|proteolysis	extracellular space	protein binding|serine-type endopeptidase activity			NS(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	15		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00379)|GBM - Glioblastoma multiforme(134;0.00888)		ACACCGCCCCGCAGTAGAGCT	0.627													16	30					0	0	1	0	0	A	51453167	G	A	51453167	2	1	394	1	0	0	0	0	0	0	0	1	8450	1079	38	1		1	KLK5	19	51453167	Silent	SNP	G	TCGA-QH-A6XC-01A-12D-A32B-08	8019383	51453167	7675816	50	33274											
USP29	57663	broad.mit.edu	37	19	57642572	57642572	+	Silent	SNP	C	C	T			TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr19:57642572C>T	ENST00000254181.4	+	4	2983	c.2529C>T	c.(2527-2529)agC>agT	p.S843S	USP29_ENST00000598197.1_Silent_p.S843S	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	843					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		ATTACATCAGCGATGTGTATG	0.483													26	35					0	0	1	0	0	T	57642572	C	T	57642572	2	4	394	1	0	0	0	0	0	0	0	1	17119	767	27	1		1	USP29	19	57642572	Silent	SNP	C	TCGA-QH-A6XC-01A-12D-A32B-08	6189405	57642572	1486411	51	33275											
TGM6	343641	broad.mit.edu	37	20	2375141	2375141	+	Silent	SNP	C	C	T	rs147506152	by1000genomes	TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr20:2375141C>T	ENST00000202625.2	+	2	112	c.51C>T	c.(49-51)ggC>ggT	p.G17G	TGM6_ENST00000381423.1_Silent_p.G17G|TGM6_ENST00000477505.1_3'UTR	NM_198994.2	NP_945345.2	O95932	TGM3L_HUMAN	transglutaminase 6	17					cell death|peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	p.G17G(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52					L-Glutamine(DB00130)	CGAGGAATGGCGCTGCCCACC	0.647													20	19					0	0	1	0	0	T	2375141	C	T	2375141	2	4	394	1	0	0	0	0	0	0	0	1	15894	755	27	1		1	TGM6	20	2375141	Silent	SNP	C	TCGA-QH-A6XC-01A-12D-A32B-08		2375141	60650379	52	33276											
MEI1	150365	broad.mit.edu	37	22	42166858	42166858	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr22:42166858G>A	ENST00000401548.3	+	20	2477	c.2437G>A	c.(2437-2439)Gag>Aag	p.E813K	MEI1_ENST00000400107.1_Missense_Mutation_p.E181K|MEI1_ENST00000300398.4_5'UTR|MEI1_ENST00000540880.1_Missense_Mutation_p.E131K	NM_152513.3	NP_689726.3	Q5TIA1	MEI1_HUMAN	meiosis inhibitor 1	813							binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						GAGCAGCTATGAGGAACTGGA	0.542													23	43					0	0	1	0	0	A	42166858	G	A	42166858	3	1	394	1	0	0	0	0	1	0	0	0	9515	1291	45	2	2515	2	MEI1	22	42166858	Missense_Mutation	SNP	G	TCGA-QH-A6XC-01A-12D-A32B-08		42166858	9137708	53	33277											
TBC1D22A	25771	broad.mit.edu	37	22	47189507	47189507	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr22:47189507G>A	ENST00000337137.4	+	3	395	c.229G>A	c.(229-231)Gac>Aac	p.D77N	TBC1D22A_ENST00000406733.1_Missense_Mutation_p.D30N|TBC1D22A_ENST00000380995.1_Missense_Mutation_p.D30N|TBC1D22A_ENST00000355704.3_Missense_Mutation_p.D58N|TBC1D22A_ENST00000407381.3_Missense_Mutation_p.D77N|TBC1D22A_ENST00000472791.1_3'UTR	NM_001284304.1|NM_001284305.1|NM_014346.2	NP_001271233.1|NP_001271234.1|NP_055161.1	Q8WUA7	TB22A_HUMAN	TBC1 domain family, member 22A	77						intracellular	protein homodimerization activity|Rab GTPase activator activity			breast(1)|endometrium(3)|large_intestine(10)|lung(5)|ovary(2)|prostate(1)	22		all_cancers(38;4.44e-05)|all_epithelial(38;0.000507)|Breast(42;0.0488)|all_lung(38;0.0682)|Ovarian(80;0.0731)|all_neural(38;0.0966)|Glioma(61;0.222)|Lung SC(80;0.236)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0347)|BRCA - Breast invasive adenocarcinoma(115;0.231)		CGCTGGGGAGGACGACGATGA	0.637													17	28					0	0	1	0	0	A	47189507	G	A	47189507	3	1	394	1	0	0	0	0	1	0	0	0	15668	1174	41	2	239	2	TBC1D22A	22	47189507	Missense_Mutation	SNP	G	TCGA-QH-A6XC-01A-12D-A32B-08	5022649	47189507	4115059	54	33278											
PLCXD1	55344	broad.mit.edu	37	X	209794	209794	+	Silent	SNP	G	G	A			TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chrX:209794G>A	ENST00000381657.2	+	6	1156	c.642G>A	c.(640-642)ctG>ctA	p.L214L	PLCXD1_ENST00000399012.1_Silent_p.L214L|PLCXD1_ENST00000381663.3_Silent_p.L214L	NM_018390.3	NP_060860.1	Q9NUJ7	PLCX1_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 1	214					intracellular signal transduction|lipid metabolic process		phospholipase C activity			endometrium(3)|large_intestine(1)|lung(7)	11		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				ACCACGAGCTGTGGCCAGGAG	0.637													19	31					0	0	1	0	0	A	209794	G	A	209794	2	1	394	1	0	0	0	0	0	0	0	1	12089	1364	48	2		2	PLCXD1	23	209794	Silent	SNP	G	TCGA-QH-A6XC-01A-12D-A32B-08		209794	155060766	55	33279											
RBM10	8241	broad.mit.edu	37	X	47030561	47030563	+	In_Frame_Del	DEL	GGA	GGA	-			TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chrX:47030561_47030563delGGA	ENST00000377604.3	+	4	1078_1080	c.336_338delGGA	c.(334-339)ggggag>ggg	p.E119del	RBM10_ENST00000345781.6_Intron|RBM10_ENST00000329236.7_Intron	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN	RNA binding motif protein 10	119	Poly-Glu.				mRNA processing|RNA splicing	chromatin remodeling complex	nucleotide binding|RNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						CCGAGCAAGGggaggaggaggag	0.66													5	10	---	---	---	---						-	47030563	GGA	-	47030561	7	5	394	1	0	1	0	1	0	0	0	0	13163	1219	43	0	346	0	RBM10	23	47030561	In_Frame_Del	DEL	GGA	TCGA-QH-A6XC-01A-12D-A32B-08	46820767	47030561	108239999	56	33280											
FUBP1	8880	broad.mit.edu	37	1	78444659	78444659	+	Frame_Shift_Del	DEL	G	G	-			TCGA-QH-A86X-01A-11D-A36O-08	TCGA-QH-A86X-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d987213e-8137-4aff-9332-890b683cea2f	54b51d95-2a98-444a-9c72-6196b1788ec4	g.chr1:78444659delG	ENST00000370767.1	-	1	117	c.30delC	c.(28-30)cccfs	p.P10fs	FUBP1_ENST00000436586.2_Frame_Shift_Del_p.P10fs|FUBP1_ENST00000370768.2_Frame_Shift_Del_p.P10fs			Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1	10					transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						AGCCAGAAGAGGGGGGAGGCA	0.557			"F, N"		oligodendroglioma								9	12	---	---	---	---						-	78444659	G	-	78444659	7	5	395	1	0	1	0	1	0	0	0	0	6127	987	35	0	1984	0	FUBP1	1	78444659	Frame_Shift_Del	DEL	G	TCGA-QH-A86X-01A-11D-A36O-08		78444659	170805962	1	33281											
LCE2B	26239	broad.mit.edu	37	1	152659435	152659435	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A86X-01A-11D-A36O-08	TCGA-QH-A86X-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d987213e-8137-4aff-9332-890b683cea2f	54b51d95-2a98-444a-9c72-6196b1788ec4	g.chr1:152659435C>T	ENST00000368780.3	+	2	170	c.116C>T	c.(115-117)cCa>cTa	p.P39L	LCE2B_ENST00000417924.2_Missense_Mutation_p.P39L	NM_014357.4	NP_055172.1	O14633	LCE2B_HUMAN	late cornified envelope 2B	39	Cys-rich.|Pro-rich.				keratinization					endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	11	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGCCCAGCTCCATGTTCCCCT	0.622													8	175					0	0	1	0	0	T	152659435	C	T	152659435	3	4	395	1	0	0	0	0	1	0	0	0	8705	594	21	2	118	2	LCE2B	1	152659435	Missense_Mutation	SNP	C	TCGA-QH-A86X-01A-11D-A36O-08	74214776	152659435	96591186	2	33282											
LMNA	4000	broad.mit.edu	37	1	156105907	156105907	+	Silent	SNP	G	G	A			TCGA-QH-A86X-01A-11D-A36O-08	TCGA-QH-A86X-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d987213e-8137-4aff-9332-890b683cea2f	54b51d95-2a98-444a-9c72-6196b1788ec4	g.chr1:156105907G>A	ENST00000368300.4	+	6	1364	c.1152G>A	c.(1150-1152)gaG>gaA	p.E384E	LMNA_ENST00000473598.2_Silent_p.E285E|LMNA_ENST00000448611.2_Silent_p.E272E|LMNA_ENST00000392353.3_Silent_p.E303E|LMNA_ENST00000368297.1_Silent_p.E303E|LMNA_ENST00000368301.2_Silent_p.E384E|LMNA_ENST00000361308.4_Silent_p.E384E|LMNA_ENST00000368299.3_Silent_p.E384E|LMNA_ENST00000496738.1_3'UTR|LMNA_ENST00000347559.2_Silent_p.E384E	NM_170707.3	NP_733821.1	P02545	LMNA_HUMAN	lamin A/C	384	Tail.				cellular component disassembly involved in apoptosis|cellular response to hypoxia|establishment or maintenance of microtubule cytoskeleton polarity|muscle organ development|positive regulation of cell aging|regulation of apoptosis|regulation of cell migration	cytoplasm|lamin filament|nuclear envelope|perinuclear region of cytoplasm	protein binding|structural molecule activity			NS(1)|endometrium(1)|kidney(1)|lung(3)|ovary(4)	10	Hepatocellular(266;0.158)					AGGGCGAGGAGGAGAGGTGGG	0.642									Werner syndrome;Hutchinson-Gilford Progeria Syndrome				8	21					0	0	1	0	0	A	156105907	G	A	156105907	2	1	395	1	0	0	0	0	0	0	0	1	8889	991	35	2		2	LMNA	1	156105907	Silent	SNP	G	TCGA-QH-A86X-01A-11D-A36O-08	3446472	156105907	93144714	3	33283											
PKP1	5317	broad.mit.edu	37	1	201291189	201291189	+	Silent	SNP	G	G	A			TCGA-QH-A86X-01A-11D-A36O-08	TCGA-QH-A86X-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d987213e-8137-4aff-9332-890b683cea2f	54b51d95-2a98-444a-9c72-6196b1788ec4	g.chr1:201291189G>A	ENST00000263946.3	+	9	1745	c.1494G>A	c.(1492-1494)gaG>gaA	p.E498E	PKP1_ENST00000367324.3_Silent_p.E477E|PKP1_ENST00000352845.3_Silent_p.E498E	NM_000299.3	NP_000290.2	Q13835	PKP1_HUMAN	plakophilin 1 (ectodermal dysplasia/skin fragility syndrome)	498					cell adhesion|cellular component disassembly involved in apoptosis|multicellular organismal development	desmosome|intermediate filament|nucleus	intermediate filament binding|signal transducer activity|structural constituent of epidermis			NS(2)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(5)|prostate(1)	22						GCCAGCTGGAGTATAACGCCC	0.607													6	19					0	0	1	0	0	A	201291189	G	A	201291189	2	1	395	1	0	0	0	0	0	0	0	1	12032	1020	36	2		2	PKP1	1	201291189	Silent	SNP	G	TCGA-QH-A86X-01A-11D-A36O-08	45185282	201291189	47959432	4	33284											
APOB	338	broad.mit.edu	37	2	21245798	21245798	+	Silent	SNP	G	G	A	rs72653068		TCGA-QH-A86X-01A-11D-A36O-08	TCGA-QH-A86X-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d987213e-8137-4aff-9332-890b683cea2f	54b51d95-2a98-444a-9c72-6196b1788ec4	g.chr2:21245798G>A	ENST00000233242.1	-	18	2848	c.2721C>T	c.(2719-2721)caC>caT	p.H907H		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	907	Heparin-binding.				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	GACCCGACTCGTGGAAGAAGT	0.507													8	15					0	0	1	0	0	A	21245798	G	A	21245798	2	1	395	1	0	0	0	0	0	0	0	1	782	1136	40	1		1	APOB	2	21245798	Silent	SNP	G	TCGA-QH-A86X-01A-11D-A36O-08		21245798	221953575	5	33285											
UBR3	130507	broad.mit.edu	37	2	170937133	170937133	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A86X-01A-11D-A36O-08	TCGA-QH-A86X-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d987213e-8137-4aff-9332-890b683cea2f	54b51d95-2a98-444a-9c72-6196b1788ec4	g.chr2:170937133C>T	ENST00000272793.5	+	38	5538	c.5488C>T	c.(5488-5490)Cgc>Tgc	p.R1830C	UBR3_ENST00000392631.1_Missense_Mutation_p.R651C|UBR3_ENST00000418381.1_Missense_Mutation_p.R1830C			Q6ZT12	UBR3_HUMAN	ubiquitin protein ligase E3 component n-recognin 3 (putative)	1830					sensory perception of smell|suckling behavior|ubiquitin-dependent protein catabolic process	integral to membrane	ubiquitin-protein ligase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(3)|stomach(1)	33						TCGAGGTCACCGCTTCTGCCT	0.398													22	22					0	0	1	0	0	T	170937133	C	T	170937133	3	4	395	1	0	0	0	0	1	0	0	0	16964	652	23	1	5638	1	UBR3	2	170937133	Missense_Mutation	SNP	C	TCGA-QH-A86X-01A-11D-A36O-08	149691335	170937133	72262240	6	33286											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-QH-A86X-01A-11D-A36O-08	TCGA-QH-A86X-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d987213e-8137-4aff-9332-890b683cea2f	54b51d95-2a98-444a-9c72-6196b1788ec4	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	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								25	37					0	0	1	0	0	T	209113112	C	T	209113112	3	4	395	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-QH-A86X-01A-11D-A36O-08	38175979	209113112	34086261	7	33287											
IRAK2	3656	broad.mit.edu	37	3	10255186	10255186	+	Nonsense_Mutation	SNP	G	G	T			TCGA-QH-A86X-01A-11D-A36O-08	TCGA-QH-A86X-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d987213e-8137-4aff-9332-890b683cea2f	54b51d95-2a98-444a-9c72-6196b1788ec4	g.chr3:10255186G>T	ENST00000256458.4	+	6	832	c.742G>T	c.(742-744)Gga>Tga	p.G248*		NM_001570.3	NP_001561.3	O43187	IRAK2_HUMAN	interleukin-1 receptor-associated kinase 2	248	Protein kinase.				activation of MAPK activity|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|interleukin-1-mediated signaling pathway|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of NF-kappaB transcription factor activity|positive regulation of NF-kappaB transcription factor activity|regulation of cytokine-mediated signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|endosome membrane|plasma membrane	ATP binding|NF-kappaB-inducing kinase activity|protein heterodimerization activity|protein homodimerization activity			breast(4)|large_intestine(8)|lung(11)|prostate(1)|stomach(1)	25						TTCAAGTCCAGGATCAATCGA	0.463													7	55					8.12818e-05	8.91478e-05	1	1	0	T	10255186	G	T	10255186	4	4	395	1	0	0	0	0	0	1	0	0	7867	1001	35	4	764	4	IRAK2	3	10255186	Nonsense_Mutation	SNP	G	TCGA-QH-A86X-01A-11D-A36O-08		10255186	187767244	8	33288											
SI	6476	broad.mit.edu	37	3	164781241	164781241	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A86X-01A-11D-A36O-08	TCGA-QH-A86X-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d987213e-8137-4aff-9332-890b683cea2f	54b51d95-2a98-444a-9c72-6196b1788ec4	g.chr3:164781241C>T	ENST00000264382.3	-	8	958	c.896G>A	c.(895-897)aGc>aAc	p.S299N		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	299	Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	CATTGCATTGCTATTCATTAA	0.264										HNSCC(35;0.089)			17	56					0	0	1	0	0	T	164781241	C	T	164781241	3	4	395	1	0	0	0	0	1	0	0	0	14352	797	28	2	4751	2	SI	3	164781241	Missense_Mutation	SNP	C	TCGA-QH-A86X-01A-11D-A36O-08	154526055	164781241	33241189	9	33289											
PRDM8	56978	broad.mit.edu	37	4	81122620	81122620	+	Missense_Mutation	SNP	A	A	T			TCGA-QH-A86X-01A-11D-A36O-08	TCGA-QH-A86X-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d987213e-8137-4aff-9332-890b683cea2f	54b51d95-2a98-444a-9c72-6196b1788ec4	g.chr4:81122620A>T	ENST00000339711.4	+	9	1627	c.396A>T	c.(394-396)aaA>aaT	p.K132N	PRDM8_ENST00000415738.2_Missense_Mutation_p.K132N|PRDM8_ENST00000504452.1_Missense_Mutation_p.K132N	NM_020226.3	NP_064611.3	Q9NQV8	PRDM8_HUMAN	PR domain containing 8	132	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(2)	10						GGTACGGGAAAGAACTGACTG	0.517											OREG0016246	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	40					0	0	1	0	0	T	81122620	A	T	81122620	3	4	395	1	0	0	0	0	1	0	0	0	12514	69	3	5	402	5	PRDM8	4	81122620	Missense_Mutation	SNP	A	TCGA-QH-A86X-01A-11D-A36O-08		81122620	110031656	10	33290											
DHX29	54505	broad.mit.edu	37	5	54577289	54577289	+	Missense_Mutation	SNP	T	T	C			TCGA-QH-A86X-01A-11D-A36O-08	TCGA-QH-A86X-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d987213e-8137-4aff-9332-890b683cea2f	54b51d95-2a98-444a-9c72-6196b1788ec4	g.chr5:54577289T>C	ENST00000251636.5	-	12	2168	c.2020A>G	c.(2020-2022)Agg>Ggg	p.R674G	RP11-506H20.1_ENST00000506435.1_RNA	NM_019030.2	NP_061903.2	Q7Z478	DHX29_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 29	674	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|translation initiation factor activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|lung(6)|ovary(4)|prostate(1)|skin(3)|urinary_tract(2)	46		Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183)				TAGAGTAACCTGGTAGATTCA	0.388													11	33					0	0	1	0	0	C	54577289	T	C	54577289	3	2	395	1	0	0	0	0	1	0	0	0	4531	1579	55	3	2153	3	DHX29	5	54577289	Missense_Mutation	SNP	T	TCGA-QH-A86X-01A-11D-A36O-08		54577289	126337971	11	33291											
POLK	51426	broad.mit.edu	37	5	74892057	74892057	+	Missense_Mutation	SNP	A	A	G			TCGA-QH-A86X-01A-11D-A36O-08	TCGA-QH-A86X-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d987213e-8137-4aff-9332-890b683cea2f	54b51d95-2a98-444a-9c72-6196b1788ec4	g.chr5:74892057A>G	ENST00000241436.4	+	13	1711	c.1539A>G	c.(1537-1539)atA>atG	p.I513M	POLK_ENST00000352007.5_Missense_Mutation_p.I315M|POLK_ENST00000504026.1_Intron|POLK_ENST00000508526.1_Missense_Mutation_p.I315M|POLK_ENST00000380481.3_Missense_Mutation_p.I423M|POLK_ENST00000506928.1_3'UTR	NM_016218.2	NP_057302.1	Q9UBT6	POLK_HUMAN	polymerase (DNA directed) kappa	513					DNA replication|nucleotide-excision repair, DNA gap filling	nucleus	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding			endometrium(1)|kidney(4)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	27		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;2.9e-54)|all cancers(79;1.27e-42)		GTGTTCGGATATCTAGTTTTC	0.378								DNA polymerases (catalytic subunits)					7	28					0	0	1	0	0	G	74892057	A	G	74892057	3	3	395	1	0	0	0	0	1	0	0	0	12252	439	16	3	1585	3	POLK	5	74892057	Missense_Mutation	SNP	A	TCGA-QH-A86X-01A-11D-A36O-08	20314768	74892057	106023203	12	33292											
XPA	7507	broad.mit.edu	37	9	100459557	100459557	+	Silent	SNP	C	C	T			TCGA-QH-A86X-01A-11D-A36O-08	TCGA-QH-A86X-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d987213e-8137-4aff-9332-890b683cea2f	54b51d95-2a98-444a-9c72-6196b1788ec4	g.chr9:100459557C>T	ENST00000375128.4	-	1	82	c.18G>A	c.(16-18)ggG>ggA	p.G6G		NM_000380.3	NP_000371.1	P23025	XPA_HUMAN	xeroderma pigmentosum, complementation group A	6	Interaction with CEP164 and required for UV resistance.				nucleotide-excision repair, DNA damage removal	nucleoplasm	damaged DNA binding|metal ion binding|nucleotide binding|protein domain specific binding|protein homodimerization activity			breast(1)|endometrium(4)|large_intestine(1)|lung(4)|prostate(1)	11		Acute lymphoblastic leukemia(62;0.158)				CCGGCAAAGCCCCGTCGGCCG	0.731			"Mis, N, F, S"			"skin basal cell, skin squamous cell, melanoma"		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				6	22					0	0	1	0	0	T	100459557	C	T	100459557	2	4	395	1	0	0	0	0	0	0	0	1	17500	610	22	2		2	XPA	9	100459557	Silent	SNP	C	TCGA-QH-A86X-01A-11D-A36O-08		100459557	40753874	13	33293											
KRT75	9119	broad.mit.edu	37	12	52822482	52822482	+	Nonsense_Mutation	SNP	G	G	A	rs151328629		TCGA-QH-A86X-01A-11D-A36O-08	TCGA-QH-A86X-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d987213e-8137-4aff-9332-890b683cea2f	54b51d95-2a98-444a-9c72-6196b1788ec4	g.chr12:52822482G>A	ENST00000252245.5	-	6	1301	c.1081C>T	c.(1081-1083)Cga>Tga	p.R361*		NM_004693.2	NP_004684.2	O95678	K2C75_HUMAN	keratin 75	361	Coil 2.|Rod.					keratin filament	structural molecule activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(10)|prostate(1)|skin(1)	28				BRCA - Breast invasive adenocarcinoma(357;0.192)		TTGGTGTTTCGAAGGTCATCC	0.532													7	43					0	0	1	0	0	A	52822482	G	A	52822482	4	1	395	1	0	0	0	0	0	1	0	0	8531	1066	37	1	590	1	KRT75	12	52822482	Nonsense_Mutation	SNP	G	TCGA-QH-A86X-01A-11D-A36O-08		52822482	81029413	14	33294											
WDR90	197335	broad.mit.edu	37	16	705148	705148	+	Splice_Site	SNP	G	G	A			TCGA-QH-A86X-01A-11D-A36O-08	TCGA-QH-A86X-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d987213e-8137-4aff-9332-890b683cea2f	54b51d95-2a98-444a-9c72-6196b1788ec4	g.chr16:705148G>A	ENST00000549091.1	+	14	1648		c.e14+1		LA16c-349E10.1_ENST00000573609.1_RNA|WDR90_ENST00000293879.4_Splice_Site	NM_145294.4	NP_660337.3	Q96KV7	WDR90_HUMAN	WD repeat domain 90											endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				ATGAAACCAGGTGATGCAGCC	0.657													7	48					0	0	1	0	0	A	705148	G	A	705148	5	1	395	1	0	0	0	0	0	0	1	0	17397	1275	44	2	1611	2	WDR90	16	705148	Splice_Site	SNP	G	TCGA-QH-A86X-01A-11D-A36O-08		705148	89649605	15	33295											
MPV17L	255027	broad.mit.edu	37	16	15501855	15501855	+	Missense_Mutation	SNP	C	C	G			TCGA-QH-A86X-01A-11D-A36O-08	TCGA-QH-A86X-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d987213e-8137-4aff-9332-890b683cea2f	54b51d95-2a98-444a-9c72-6196b1788ec4	g.chr16:15501855C>G	ENST00000287594.7	+	3	550	c.406C>G	c.(406-408)Ctg>Gtg	p.L136V	MPV17L_ENST00000396385.3_Silent_p.L159L|RP11-1021N1.1_ENST00000568222.1_Intron	NM_173803.3	NP_776164.2	Q2QL34	MP17L_HUMAN	MPV17 mitochondrial membrane protein-like							integral to membrane|peroxisomal membrane				kidney(2)|large_intestine(1)|skin(1)	4						GTGGTTTTCTCTGGGCCACCT	0.502													3	60					0	0	1	0	0	G	15501855	C	G	15501855	3	3	395	1	0	0	0	0	1	0	0	0	9795	912	32	4	491	4	MPV17L	16	15501855	Missense_Mutation	SNP	C	TCGA-QH-A86X-01A-11D-A36O-08	14796707	15501855	74852898	16	33296											
ACSM2B	348158	broad.mit.edu	37	16	20556560	20556560	+	Missense_Mutation	SNP	G	G	C			TCGA-QH-A86X-01A-11D-A36O-08	TCGA-QH-A86X-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d987213e-8137-4aff-9332-890b683cea2f	54b51d95-2a98-444a-9c72-6196b1788ec4	g.chr16:20556560G>C	ENST00000329697.6	-	10	1368	c.1200C>G	c.(1198-1200)aaC>aaG	p.N400K	ACSM2B_ENST00000565322.1_Missense_Mutation_p.N321K|ACSM2B_ENST00000567001.1_Missense_Mutation_p.N400K|ACSM2B_ENST00000567288.1_5'UTR|ACSM2B_ENST00000565232.1_Missense_Mutation_p.N400K	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	400					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						GGGGCAGGACGTTGCCCTTAT	0.507													23	26					0	0	1	0	0	C	20556560	G	C	20556560	3	2	395	1	0	0	0	0	1	0	0	0	184	1136	40	5	553	5	ACSM2B	16	20556560	Missense_Mutation	SNP	G	TCGA-QH-A86X-01A-11D-A36O-08	5054705	20556560	69798193	17	33297											
PHLPP2	23035	broad.mit.edu	37	16	71689222	71689222	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A86X-01A-11D-A36O-08	TCGA-QH-A86X-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d987213e-8137-4aff-9332-890b683cea2f	54b51d95-2a98-444a-9c72-6196b1788ec4	g.chr16:71689222C>T	ENST00000393524.2	-	15	3038	c.2305G>A	c.(2305-2307)Gca>Aca	p.A769T	PHLPP2_ENST00000540628.1_Missense_Mutation_p.A46T|PHLPP2_ENST00000568954.1_Missense_Mutation_p.A836T|PHLPP2_ENST00000356272.3_Missense_Mutation_p.A836T|PHLPP2_ENST00000567016.1_Missense_Mutation_p.A871T|PHLPP2_ENST00000360429.3_Missense_Mutation_p.A836T|RP11-432I5.6_ENST00000567077.1_RNA			Q6ZVD8	PHLP2_HUMAN	PH domain and leucine rich repeat protein phosphatase 2	836						cytoplasm|membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						AGCACATCTGCCATCGTACAC	0.488													7	119					0	0	1	0	0	T	71689222	C	T	71689222	3	4	395	1	0	0	0	0	1	0	0	0	11903	739	26	2	1477	2	PHLPP2	16	71689222	Missense_Mutation	SNP	C	TCGA-QH-A86X-01A-11D-A36O-08	51132662	71689222	18665531	18	33298											
ZFHX3	463	broad.mit.edu	37	16	72831385	72831385	+	Silent	SNP	T	T	C	rs76691369	byFrequency	TCGA-QH-A86X-01A-11D-A36O-08	TCGA-QH-A86X-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d987213e-8137-4aff-9332-890b683cea2f	54b51d95-2a98-444a-9c72-6196b1788ec4	g.chr16:72831385T>C	ENST00000268489.5	-	9	5868	c.5196A>G	c.(5194-5196)caA>caG	p.Q1732Q	ZFHX3_ENST00000397992.5_Silent_p.Q818Q	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	1732	Poly-Gln.				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				gttgttgttgttgctgttgct	0.537													3	13					0	0	1	0	0	C	72831385	T	C	72831385	2	2	395	1	0	0	0	0	0	0	0	1	17692	1722	60	3		3	ZFHX3	16	72831385	Silent	SNP	T	TCGA-QH-A86X-01A-11D-A36O-08	1142163	72831385	17523368	19	33299											
ACTG1	71	broad.mit.edu	37	17	79478121	79478121	+	Silent	SNP	G	G	A			TCGA-QH-A86X-01A-11D-A36O-08	TCGA-QH-A86X-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d987213e-8137-4aff-9332-890b683cea2f	54b51d95-2a98-444a-9c72-6196b1788ec4	g.chr17:79478121G>A	ENST00000575842.1	-	4	1242	c.816C>T	c.(814-816)tgC>tgT	p.C272C	ACTG1_ENST00000331925.2_Silent_p.C272C|AC139149.1_ENST00000584254.1_RNA|ACTG1_ENST00000575087.1_Silent_p.C272C|ACTG1_ENST00000573283.1_Silent_p.C272C			P63261	ACTG_HUMAN	actin, gamma 1	272					adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement	cytoskeleton|cytosol	ATP binding|identical protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|lung(8)|ovary(2)|prostate(5)|urinary_tract(1)	29	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0547)			CGTGGATGCCGCAAGATTCCA	0.542													4	79					0	0	1	0	0	A	79478121	G	A	79478121	2	1	395	1	0	0	0	0	0	0	0	1	196	1079	38	1		1	ACTG1	17	79478121	Silent	SNP	G	TCGA-QH-A86X-01A-11D-A36O-08		79478121	1717089	20	33300											
ZNF407	55628	broad.mit.edu	37	18	72343568	72343568	+	Missense_Mutation	SNP	G	G	T			TCGA-QH-A86X-01A-11D-A36O-08	TCGA-QH-A86X-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d987213e-8137-4aff-9332-890b683cea2f	54b51d95-2a98-444a-9c72-6196b1788ec4	g.chr18:72343568G>T	ENST00000299687.5	+	1	593	c.593G>T	c.(592-594)tGc>tTc	p.C198F	ZNF407_ENST00000582337.1_Missense_Mutation_p.C198F|ZNF407_ENST00000309902.6_Missense_Mutation_p.C198F|ZNF407_ENST00000577538.1_Missense_Mutation_p.C198F	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	198					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		TTTTCTTCTTGCTCTGACTTG	0.448													10	140					0.00621372	0.00640201	1	1	0	T	72343568	G	T	72343568	3	4	395	1	0	0	0	0	1	0	0	0	17944	1319	46	5	595	5	ZNF407	18	72343568	Missense_Mutation	SNP	G	TCGA-QH-A86X-01A-11D-A36O-08		72343568	5733680	21	33301											
CIC	23152	broad.mit.edu	37	19	42791393	42791393	+	Splice_Site	SNP	G	G	A			TCGA-QH-A86X-01A-11D-A36O-08	TCGA-QH-A86X-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d987213e-8137-4aff-9332-890b683cea2f	54b51d95-2a98-444a-9c72-6196b1788ec4	g.chr19:42791393G>A	ENST00000572681.2	+	4	3247		c.e4+1		CIC_ENST00000575354.2_Splice_Site|CIC_ENST00000160740.3_Splice_Site			Q96RK0	CIC_HUMAN	capicua transcriptional repressor						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				ATGATGATGCGTGAGTTCCCT	0.647			"Mis, F, S"		oligodendroglioma								11	7					0	0	1	0	0	A	42791393	G	A	42791393	5	1	395	1	0	0	0	0	0	0	1	0	3446	1159	40	1	463	1	CIC	19	42791393	Splice_Site	SNP	G	TCGA-QH-A86X-01A-11D-A36O-08		42791393	16337590	22	33302											
PRMT1	3276	broad.mit.edu	37	19	50185264	50185264	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A86X-01A-11D-A36O-08	TCGA-QH-A86X-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d987213e-8137-4aff-9332-890b683cea2f	54b51d95-2a98-444a-9c72-6196b1788ec4	g.chr19:50185264C>T	ENST00000532489.1	+	4	658	c.152C>T	c.(151-153)tCg>tTg	p.S51L	PRMT1_ENST00000454376.2_Missense_Mutation_p.S97L|PRMT1_ENST00000391851.4_Missense_Mutation_p.S79L			Q8WUW5	Q8WUW5_HUMAN	protein arginine methyltransferase 1	78						cytoplasm	protein methyltransferase activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|ovary(2)	12		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00103)|GBM - Glioblastoma multiforme(134;0.012)		GACGTCGGCTCGGGCACCGGC	0.637													3	24					0	0	1	0	0	T	50185264	C	T	50185264	3	4	395	1	0	0	0	0	1	0	0	0	12587	893	31	1	304	1	PRMT1	19	50185264	Missense_Mutation	SNP	C	TCGA-QH-A86X-01A-11D-A36O-08	7393871	50185264	8943719	23	33303											
RCC2	55920	broad.mit.edu	37	1	17735688	17735688	+	Silent	SNP	G	G	A			TCGA-QH-A870-01A-11D-A36O-08	TCGA-QH-A870-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21c70b19-0954-49d7-bc5b-f8acc395a327	e3089585-00a8-498f-9edc-e7ebf283be39	g.chr1:17735688G>A	ENST00000375436.4	-	13	1654	c.1467C>T	c.(1465-1467)gtC>gtT	p.V489V	RCC2_ENST00000375433.3_Silent_p.V489V	NM_018715.3	NP_061185.1	Q9P258	RCC2_HUMAN	regulator of chromosome condensation 2	489					cell division|mitotic prometaphase	chromosome, centromeric region|cytosol|microtubule|nucleolus|spindle				breast(2)|endometrium(1)|kidney(3)|large_intestine(7)|lung(4)	17		Colorectal(325;0.000147)|Breast(348;0.00122)|Renal(390;0.00145)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00492)|BRCA - Breast invasive adenocarcinoma(304;7.69e-06)|COAD - Colon adenocarcinoma(227;1.19e-05)|Kidney(64;0.000189)|KIRC - Kidney renal clear cell carcinoma(64;0.00273)|STAD - Stomach adenocarcinoma(196;0.0135)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.19)		AGCCCATGGCGACCTGGGGGG	0.522													25	66					0	0	1	0	0	A	17735688	G	A	17735688	2	1	396	1	0	0	0	0	0	0	0	1	13226	1045	37	1		1	RCC2	1	17735688	Silent	SNP	G	TCGA-QH-A870-01A-11D-A36O-08		17735688	231514933	1	33304											
SYCP1	6847	broad.mit.edu	37	1	115488993	115488993	+	Silent	SNP	A	A	G			TCGA-QH-A870-01A-11D-A36O-08	TCGA-QH-A870-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21c70b19-0954-49d7-bc5b-f8acc395a327	e3089585-00a8-498f-9edc-e7ebf283be39	g.chr1:115488993A>G	ENST00000369522.3	+	26	2478	c.2238A>G	c.(2236-2238)agA>agG	p.R746R	SYCP1_ENST00000369518.1_Silent_p.R746R	NM_001282541.1|NM_003176.2	NP_001269470.1|NP_003167.2	Q15431	SYCP1_HUMAN	synaptonemal complex protein 1	746					cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding		RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		CATCACTGAGAGCATCTTTGG	0.323													4	90					0	0	1	0	0	G	115488993	A	G	115488993	2	3	396	1	0	0	0	0	0	0	0	1	15488	301	11	3		3	SYCP1	1	115488993	Silent	SNP	A	TCGA-QH-A870-01A-11D-A36O-08	97753305	115488993	133761628	2	33305											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-QH-A870-01A-11D-A36O-08	TCGA-QH-A870-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21c70b19-0954-49d7-bc5b-f8acc395a327	e3089585-00a8-498f-9edc-e7ebf283be39	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	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								32	54					0	0	1	0	0	T	209113112	C	T	209113112	3	4	396	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-QH-A870-01A-11D-A36O-08		209113112	34086261	3	33306											
VIL1	7429	broad.mit.edu	37	2	219297657	219297657	+	Missense_Mutation	SNP	C	C	A			TCGA-QH-A870-01A-11D-A36O-08	TCGA-QH-A870-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21c70b19-0954-49d7-bc5b-f8acc395a327	e3089585-00a8-498f-9edc-e7ebf283be39	g.chr2:219297657C>A	ENST00000248444.5	+	13	1571	c.1483C>A	c.(1483-1485)Cgc>Agc	p.R495S	VIL1_ENST00000392114.2_Missense_Mutation_p.R184S	NM_007127.2	NP_009058.2	P09327	VILI_HUMAN	villin 1	495	Core.				actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium	actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle	actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity	p.R495C(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Renal(207;0.0474)		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CTTCAAGGGACGCATGGTGGT	0.562													3	42					0.004672	0.00480178	1	1	0	A	219297657	C	A	219297657	3	1	396	1	0	0	0	0	1	0	0	0	17224	536	19	5	1529	5	VIL1	2	219297657	Missense_Mutation	SNP	C	TCGA-QH-A870-01A-11D-A36O-08	10184545	219297657	23901716	4	33307											
TRPM8	79054	broad.mit.edu	37	2	234847747	234847747	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A870-01A-11D-A36O-08	TCGA-QH-A870-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21c70b19-0954-49d7-bc5b-f8acc395a327	e3089585-00a8-498f-9edc-e7ebf283be39	g.chr2:234847747G>A	ENST00000324695.4	+	5	494	c.454G>A	c.(454-456)Gcc>Acc	p.A152T	TRPM8_ENST00000409625.1_Missense_Mutation_p.A75T|TRPM8_ENST00000355722.4_Missense_Mutation_p.A102T|TRPM8_ENST00000433712.2_5'UTR	NM_024080.4	NP_076985.4	Q7Z2W7	TRPM8_HUMAN	transient receptor potential cation channel, subfamily M, member 8	152						integral to membrane		p.A152T(2)		breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	GACCGGGGGCGCCAAGAACTT	0.607													5	71					0	0	1	0	0	A	234847747	G	A	234847747	3	1	396	1	0	0	0	0	1	0	0	0	16653	1087	38	1	468	1	TRPM8	2	234847747	Missense_Mutation	SNP	G	TCGA-QH-A870-01A-11D-A36O-08	15550090	234847747	8351626	5	33308											
GPR125	166647	broad.mit.edu	37	4	22438138	22438138	+	Silent	SNP	G	G	A			TCGA-QH-A870-01A-11D-A36O-08	TCGA-QH-A870-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21c70b19-0954-49d7-bc5b-f8acc395a327	e3089585-00a8-498f-9edc-e7ebf283be39	g.chr4:22438138G>A	ENST00000334304.5	-	9	1481	c.1212C>T	c.(1210-1212)ggC>ggT	p.G404G	GPR125_ENST00000502482.1_Silent_p.G404G|GPR125_ENST00000282943.5_5'UTR|GPR125_ENST00000508133.1_Silent_p.G178G	NM_145290.3	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	404					neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				CTGCCCAAAAGCCACCTCTAT	0.438													25	47					0	0	1	0	0	A	22438138	G	A	22438138	2	1	396	1	0	0	0	0	0	0	0	1	6679	958	34	2		2	GPR125	4	22438138	Silent	SNP	G	TCGA-QH-A870-01A-11D-A36O-08		22438138	168716138	6	33309											
ATP10D	57205	broad.mit.edu	37	4	47517508	47517509	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-QH-A870-01A-11D-A36O-08	TCGA-QH-A870-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21c70b19-0954-49d7-bc5b-f8acc395a327	e3089585-00a8-498f-9edc-e7ebf283be39	g.chr4:47517508_47517509delTT	ENST00000273859.3	+	3	575_576	c.306_307delTT	c.(304-309)tatttcfs	p.F103fs	ATP10D_ENST00000504445.1_Frame_Shift_Del_p.F103fs	NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	103					ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						CCAATTTATATTTCCTGTTCCT	0.421													52	67	---	---	---	---						-	47517509	TT	-	47517508	7	5	396	1	0	1	0	1	0	0	0	0	1117	1500	52	0	312	0	ATP10D	4	47517508	Frame_Shift_Del	DEL	TT	TCGA-QH-A870-01A-11D-A36O-08	25079370	47517508	143636768	7	33310											
UTP3	57050	broad.mit.edu	37	4	71555330	71555330	+	Silent	SNP	C	C	A			TCGA-QH-A870-01A-11D-A36O-08	TCGA-QH-A870-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21c70b19-0954-49d7-bc5b-f8acc395a327	e3089585-00a8-498f-9edc-e7ebf283be39	g.chr4:71555330C>A	ENST00000254803.2	+	1	1135	c.936C>A	c.(934-936)tcC>tcA	p.S312S		NM_020368.2	NP_065101.1	Q9NQZ2	SAS10_HUMAN	UTP3, small subunit (SSU) processome component, homolog (S. cerevisiae)	312					brain development|chromatin modification|gene silencing	nucleolus				endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(4)	18			Lung(101;0.235)			ACAAGCTGTCCGTTGTGGATC	0.418													17	264					2.35188e-11	2.5594e-11	1	1	0	A	71555330	C	A	71555330	2	1	396	1	0	0	0	0	0	0	0	1	17161	639	23	5		5	UTP3	4	71555330	Silent	SNP	C	TCGA-QH-A870-01A-11D-A36O-08	24037822	71555330	119598946	8	33311											
PCDHB4	56131	broad.mit.edu	37	5	140503914	140503914	+	Silent	SNP	C	C	G			TCGA-QH-A870-01A-11D-A36O-08	TCGA-QH-A870-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21c70b19-0954-49d7-bc5b-f8acc395a327	e3089585-00a8-498f-9edc-e7ebf283be39	g.chr5:140503914C>G	ENST00000194152.1	+	1	2334	c.2334C>G	c.(2332-2334)acC>acG	p.T778T		NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN		778					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTCAGGACACCGGGAGGGAAG	0.448													49	59					0	0	1	0	0	G	140503914	C	G	140503914	2	3	396	1	0	0	0	0	0	0	0	1	11591	639	23	5		5	PCDHB4	5	140503914	Silent	SNP	C	TCGA-QH-A870-01A-11D-A36O-08		140503914	40411346	9	33312											
DOCK2	1794	broad.mit.edu	37	5	169116337	169116337	+	Splice_Site	SNP	G	G	A			TCGA-QH-A870-01A-11D-A36O-08	TCGA-QH-A870-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21c70b19-0954-49d7-bc5b-f8acc395a327	e3089585-00a8-498f-9edc-e7ebf283be39	g.chr5:169116337G>A	ENST00000256935.8	+	9	923	c.843G>A	c.(841-843)acG>acA	p.T281T		NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	281					actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TGGTCTTCACGGTGAGTGTGC	0.547													3	64					0	0	1	0	0	A	169116337	G	A	169116337	5	1	396	1	0	0	0	0	0	0	1	0	4714	1130	39	1	877	1	DOCK2	5	169116337	Splice_Site	SNP	G	TCGA-QH-A870-01A-11D-A36O-08	28612423	169116337	11798923	10	33313											
NEDD9	4739	broad.mit.edu	37	6	11213626	11213626	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A870-01A-11D-A36O-08	TCGA-QH-A870-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21c70b19-0954-49d7-bc5b-f8acc395a327	e3089585-00a8-498f-9edc-e7ebf283be39	g.chr6:11213626C>T	ENST00000379446.5	-	2	513	c.347G>A	c.(346-348)gGa>gAa	p.G116E	RP3-510L9.1_ENST00000500636.2_RNA|NEDD9_ENST00000504387.1_Missense_Mutation_p.G116E|NEDD9_ENST00000379433.5_Missense_Mutation_p.G116E	NM_001271033.1|NM_006403.3	NP_001257962.1|NP_006394.1	Q14511	CASL_HUMAN	neural precursor cell expressed, developmentally down-regulated 9	116	Interacts strongly with spindle- regulatory protein D1M1.				actin filament bundle assembly|cell adhesion|cell division|integrin-mediated signaling pathway|mitosis|regulation of growth	cell cortex|focal adhesion|Golgi apparatus|lamellipodium|nucleus	protein binding			endometrium(3)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	Breast(50;0.0768)|Ovarian(93;0.152)	all_hematologic(90;0.135)	Epithelial(50;0.0647)|all cancers(50;0.179)			TTGGTAAATTCCCTGATTTTG	0.552													46	66					0	0	1	0	0	T	11213626	C	T	11213626	3	4	396	1	0	0	0	0	1	0	0	0	10360	855	30	2	2251	2	NEDD9	6	11213626	Missense_Mutation	SNP	C	TCGA-QH-A870-01A-11D-A36O-08		11213626	159901441	11	33314											
PHF3	23469	broad.mit.edu	37	6	64395000	64395000	+	Frame_Shift_Del	DEL	A	A	-			TCGA-QH-A870-01A-11D-A36O-08	TCGA-QH-A870-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21c70b19-0954-49d7-bc5b-f8acc395a327	e3089585-00a8-498f-9edc-e7ebf283be39	g.chr6:64395000delA	ENST00000262043.3	+	4	1717	c.1377delA	c.(1375-1377)atafs	p.I459fs	PHF3_ENST00000509330.1_Frame_Shift_Del_p.I459fs|PHF3_ENST00000393387.1_Frame_Shift_Del_p.I459fs			Q92576	PHF3_HUMAN	PHD finger protein 3	459					multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			GTACTAAAATAGAGTCCCATG	0.358													46	64	---	---	---	---						-	64395000	A	-	64395000	7	5	396	1	0	1	0	1	0	0	0	0	11884	410	15	0	1387	0	PHF3	6	64395000	Frame_Shift_Del	DEL	A	TCGA-QH-A870-01A-11D-A36O-08	53181374	64395000	106720067	12	33315											
NSUN5	55695	broad.mit.edu	37	7	72718793	72718793	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A870-01A-11D-A36O-08	TCGA-QH-A870-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21c70b19-0954-49d7-bc5b-f8acc395a327	e3089585-00a8-498f-9edc-e7ebf283be39	g.chr7:72718793C>T	ENST00000428206.1	-	6	605	c.592G>A	c.(592-594)Gcc>Acc	p.A198T	NSUN5_ENST00000310326.8_Missense_Mutation_p.A236T|NSUN5_ENST00000252594.6_Missense_Mutation_p.A236T|NSUN5_ENST00000438747.2_Missense_Mutation_p.A236T	NM_001168348.1	NP_001161820.1	Q96P11	NSUN5_HUMAN	NOP2/Sun domain family, member 5	236							methyltransferase activity			breast(1)|endometrium(3)|large_intestine(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	8		Lung NSC(55;0.163)				TTGCCTGGGGCGGCACAGGCA	0.597													4	52					0	0	1	0	0	T	72718793	C	T	72718793	3	4	396	1	0	0	0	0	1	0	0	0	10729	768	27	1	735	1	NSUN5	7	72718793	Missense_Mutation	SNP	C	TCGA-QH-A870-01A-11D-A36O-08		72718793	86419870	13	33316											
MUC17	140453	broad.mit.edu	37	7	100684511	100684511	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A870-01A-11D-A36O-08	TCGA-QH-A870-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21c70b19-0954-49d7-bc5b-f8acc395a327	e3089585-00a8-498f-9edc-e7ebf283be39	g.chr7:100684511C>T	ENST00000306151.4	+	3	9878	c.9814C>T	c.(9814-9816)Cca>Tca	p.P3272S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3272	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TACCAGCATGCCAACCTCAAC	0.502													7	852					0	0	1	0	0	T	100684511	C	T	100684511	3	4	396	1	0	0	0	0	1	0	0	0	10022	739	26	2	9824	2	MUC17	7	100684511	Missense_Mutation	SNP	C	TCGA-QH-A870-01A-11D-A36O-08	27965718	100684511	58454152	14	33317											
ZNF703	80139	broad.mit.edu	37	8	37556023	37556023	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A870-01A-11D-A36O-08	TCGA-QH-A870-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21c70b19-0954-49d7-bc5b-f8acc395a327	e3089585-00a8-498f-9edc-e7ebf283be39	g.chr8:37556023G>A	ENST00000331569.4	+	2	1833	c.1604G>A	c.(1603-1605)cGg>cAg	p.R535Q		NM_025069.1	NP_079345.1	Q9H7S9	ZN703_HUMAN	zinc finger protein 703	535					adherens junction assembly|mammary gland epithelial cell differentiation|negative regulation of homotypic cell-cell adhesion|negative regulation of transcription, DNA-dependent|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of mammary gland epithelial cell proliferation|regulation of canonical Wnt receptor signaling pathway|regulation of cell cycle|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein binding|zinc ion binding		FGFR1/ZNF703(2)	breast(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(1)|pancreas(1)	7			BRCA - Breast invasive adenocarcinoma(5;7.93e-25)|LUSC - Lung squamous cell carcinoma(8;1.05e-09)			CTGTCCTTGCGGAATCCACAC	0.751													7	7					0	0	1	0	0	A	37556023	G	A	37556023	3	1	396	1	0	0	0	0	1	0	0	0	18162	1116	39	1	1610	1	ZNF703	8	37556023	Missense_Mutation	SNP	G	TCGA-QH-A870-01A-11D-A36O-08		37556023	108807999	15	33318											
SUFU	51684	broad.mit.edu	37	10	104356987	104356987	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A870-01A-11D-A36O-08	TCGA-QH-A870-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21c70b19-0954-49d7-bc5b-f8acc395a327	e3089585-00a8-498f-9edc-e7ebf283be39	g.chr10:104356987G>A	ENST00000369902.3	+	7	1013	c.847G>A	c.(847-849)Gag>Aag	p.E283K	SUFU_ENST00000423559.2_Missense_Mutation_p.E283K|SUFU_ENST00000369899.2_Missense_Mutation_p.E283K|SUFU_ENST00000471000.1_3'UTR	NM_016169.3	NP_057253.2	Q9UMX1	SUFU_HUMAN	suppressor of fused homolog (Drosophila)	283					negative regulation of transcription from RNA polymerase II promoter|proteolysis|skeletal system development	cytoplasm|nucleus	identical protein binding|protein binding|signal transducer activity|transcription corepressor activity|transcription factor binding	p.E283K(1)		breast(2)|central_nervous_system(7)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(2)	24		Colorectal(252;0.207)		Epithelial(162;1.36e-08)|all cancers(201;3.81e-07)|BRCA - Breast invasive adenocarcinoma(275;0.242)		CCGGCCCCCCGAGGATGACGA	0.602			"D, F, S"		medulloblastoma	medulloblastoma			Medulloblastoma, associated with Germline SUFU Mutation		OREG0020482	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	40	71					0	0	1	0	0	A	104356987	G	A	104356987	3	1	396	1	0	0	0	0	1	0	0	0	15424	1059	37	1	873	1	SUFU	10	104356987	Missense_Mutation	SNP	G	TCGA-QH-A870-01A-11D-A36O-08		104356987	31177760	16	33319											
OLR1	4973	broad.mit.edu	37	12	10312559	10312559	+	Nonsense_Mutation	SNP	G	G	A			TCGA-QH-A870-01A-11D-A36O-08	TCGA-QH-A870-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21c70b19-0954-49d7-bc5b-f8acc395a327	e3089585-00a8-498f-9edc-e7ebf283be39	g.chr12:10312559G>A	ENST00000309539.3	-	6	802	c.742C>T	c.(742-744)Cga>Tga	p.R248*	OLR1_ENST00000432556.2_3'UTR|OLR1_ENST00000545927.1_3'UTR|OLR1_ENST00000544577.1_Intron|OLR1_ENST00000543993.1_3'UTR	NM_002543.3	NP_002534.1	P78380	OLR1_HUMAN	oxidized low density lipoprotein (lectin-like) receptor 1	248	C-type lectin.				blood circulation|blood coagulation|inflammatory response|leukocyte migration|proteolysis	extracellular region|integral to plasma membrane|membrane fraction	sugar binding			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|skin(1)	10						ACAGCTCCTCGTTGTATATAT	0.428													51	85					0	0	1	0	0	A	10312559	G	A	10312559	4	1	396	1	0	0	0	0	0	1	0	0	10911	1153	40	1	83	1	OLR1	12	10312559	Nonsense_Mutation	SNP	G	TCGA-QH-A870-01A-11D-A36O-08		10312559	123539336	17	33320											
RBM25	58517	broad.mit.edu	37	14	73572994	73572994	+	Splice_Site	SNP	G	G	A			TCGA-QH-A870-01A-11D-A36O-08	TCGA-QH-A870-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21c70b19-0954-49d7-bc5b-f8acc395a327	e3089585-00a8-498f-9edc-e7ebf283be39	g.chr14:73572994G>A	ENST00000261973.7	+	12	1752		c.e12+1		RBM25_ENST00000527432.1_Splice_Site|RBM25_ENST00000532483.1_Splice_Site	NM_021239.2	NP_067062.1	P49756	RBM25_HUMAN	RNA binding motif protein 25						apoptosis|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|RNA splicing	cytoplasm|nuclear speck	mRNA binding|nucleotide binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(6)|ovary(2)|pancreas(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688)		AAGAGAAATGGTAAGATTCTA	0.328													12	24					0	0	1	0	0	A	73572994	G	A	73572994	5	1	396	1	0	0	0	0	0	0	1	0	13177	1275	44	2	1510	2	RBM25	14	73572994	Splice_Site	SNP	G	TCGA-QH-A870-01A-11D-A36O-08		73572994	33776546	18	33321											
TP53	7157	broad.mit.edu	37	17	7577120	7577120	+	Missense_Mutation	SNP	C	C	T	rs28934576	by1000genomes	TCGA-QH-A870-01A-11D-A36O-08	TCGA-QH-A870-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21c70b19-0954-49d7-bc5b-f8acc395a327	e3089585-00a8-498f-9edc-e7ebf283be39	g.chr17:7577120C>T	ENST00000420246.2	-	8	950	c.818G>A	c.(817-819)cGt>cAt	p.R273H	TP53_ENST00000269305.4_Missense_Mutation_p.R273H|TP53_ENST00000445888.2_Missense_Mutation_p.R273H|TP53_ENST00000455263.2_Missense_Mutation_p.R273H|TP53_ENST00000359597.4_Missense_Mutation_p.R273H|TP53_ENST00000413465.2_Intron	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	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).		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.R273H(521)|p.R273L(93)|p.R273P(32)|p.0?(8)|p.?(2)|p.R273fs*32(2)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273S(1)|p.E258fs*71(1)|p.R273fs*72(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.R273fs*33(1)|p.E271_R273delEVR(1)|p.V272_K292del21(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	0.542	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)			9	16					0	0	1	0	0	T	7577120	C	T	7577120	3	4	396	1	0	0	0	0	1	0	0	0	16442	536	19	1	468	1	TP53	17	7577120	Missense_Mutation	SNP	C	TCGA-QH-A870-01A-11D-A36O-08		7577120	73618090	19	33322											
TP53	7157	broad.mit.edu	37	17	7577600	7577600	+	Frame_Shift_Del	DEL	A	A	-			TCGA-QH-A870-01A-11D-A36O-08	TCGA-QH-A870-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21c70b19-0954-49d7-bc5b-f8acc395a327	e3089585-00a8-498f-9edc-e7ebf283be39	g.chr17:7577600delA	ENST00000420246.2	-	7	813	c.681delT	c.(679-681)tctfs	p.S227fs	TP53_ENST00000413465.2_Frame_Shift_Del_p.S227fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.S227fs|TP53_ENST00000269305.4_Frame_Shift_Del_p.S227fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.S227fs|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000455263.2_Frame_Shift_Del_p.S227fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	227	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		S -> C (in sporadic cancers; somatic mutation).|S -> F (in sporadic cancers; somatic mutation).|S -> P (in a sporadic cancer; somatic mutation).|S -> T (in LFS; germline mutation and 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.0?(8)|p.?(5)|p.S227S(3)|p.?fs(2)|p.V225_S227delVGS(2)|p.S227fs*1(1)|p.G226_D228delGSD(1)|p.D228fs*1(1)|p.V225fs*23(1)|p.S227_I232delSDCTTI(1)|p.D228fs*19(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)		TGGTACAGTCAGAGCCAACCT	0.522		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)			19	25	---	---	---	---						-	7577600	A	-	7577600	7	5	396	1	0	1	0	1	0	0	0	0	16442	175	7	0	609	0	TP53	17	7577600	Frame_Shift_Del	DEL	A	TCGA-QH-A870-01A-11D-A36O-08	480	7577600	73617610	20	33323											
B4GALNT2	124872	broad.mit.edu	37	17	47241556	47241556	+	Silent	SNP	C	C	T			TCGA-QH-A870-01A-11D-A36O-08	TCGA-QH-A870-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21c70b19-0954-49d7-bc5b-f8acc395a327	e3089585-00a8-498f-9edc-e7ebf283be39	g.chr17:47241556C>T	ENST00000300404.2	+	8	1112	c.1053C>T	c.(1051-1053)acC>acT	p.T351T	B4GALNT2_ENST00000504681.1_Silent_p.T265T|B4GALNT2_ENST00000393354.2_Silent_p.T291T	NM_153446.2	NP_703147.2	Q8NHY0	B4GN2_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 2	351					lipid glycosylation|negative regulation of cell-cell adhesion|UDP-N-acetylgalactosamine metabolic process	integral to Golgi membrane	acetylgalactosaminyltransferase activity	p.T351T(1)		endometrium(3)|large_intestine(6)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	24			all cancers(6;0.000316)			CAGACTTGACCGTAATAGTGG	0.483													74	109					0	0	1	0	0	T	47241556	C	T	47241556	2	4	396	1	0	0	0	0	0	0	0	1	1265	639	23	1		1	B4GALNT2	17	47241556	Silent	SNP	C	TCGA-QH-A870-01A-11D-A36O-08	39663956	47241556	33953654	21	33324											
TSHZ3	57616	broad.mit.edu	37	19	31767582	31767582	+	Silent	SNP	A	A	G			TCGA-QH-A870-01A-11D-A36O-08	TCGA-QH-A870-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21c70b19-0954-49d7-bc5b-f8acc395a327	e3089585-00a8-498f-9edc-e7ebf283be39	g.chr19:31767582A>G	ENST00000240587.4	-	2	3444	c.3117T>C	c.(3115-3117)acT>acC	p.T1039T		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	1039					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					ACTGATAGGAAGTCCCCAGGT	0.488													21	28					0	0	1	0	0	G	31767582	A	G	31767582	2	3	396	1	0	0	0	0	0	0	0	1	16686	59	3	3		3	TSHZ3	19	31767582	Silent	SNP	A	TCGA-QH-A870-01A-11D-A36O-08		31767582	27361401	22	33325											
PRR12	57479	broad.mit.edu	37	19	50099289	50099289	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A870-01A-11D-A36O-08	TCGA-QH-A870-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21c70b19-0954-49d7-bc5b-f8acc395a327	e3089585-00a8-498f-9edc-e7ebf283be39	g.chr19:50099289G>A	ENST00000418929.2	+	4	1709	c.1697G>A	c.(1696-1698)cGt>cAt	p.R566H		NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN	proline rich 12	330	Pro-rich.						DNA binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		CACATCATTCGTCCGCTCCAG	0.672													3	45					0	0	1	0	0	A	50099289	G	A	50099289	3	1	396	1	0	0	0	0	1	0	0	0	12636	1145	40	1	1711	1	PRR12	19	50099289	Missense_Mutation	SNP	G	TCGA-QH-A870-01A-11D-A36O-08	18331707	50099289	9029694	23	33326											
CHODL	140578	broad.mit.edu	37	21	19629023	19629023	+	Missense_Mutation	SNP	G	G	T			TCGA-QH-A870-01A-11D-A36O-08	TCGA-QH-A870-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21c70b19-0954-49d7-bc5b-f8acc395a327	e3089585-00a8-498f-9edc-e7ebf283be39	g.chr21:19629023G>T	ENST00000299295.2	+	2	668	c.277G>T	c.(277-279)Ggg>Tgg	p.G93W	CHODL_ENST00000400131.1_Missense_Mutation_p.G52W|CHODL_ENST00000400135.1_Missense_Mutation_p.G52W|CHODL_ENST00000400127.1_Missense_Mutation_p.G52W|CHODL_ENST00000400128.1_Missense_Mutation_p.G52W|CHODL_ENST00000543733.1_Missense_Mutation_p.G74W|CHODL_ENST00000338326.3_Missense_Mutation_p.G52W	NM_001204175.1|NM_024944.2	NP_001191104.1|NP_079220.2	Q9H9P2	CHODL_HUMAN	chondrolectin	93	C-type lectin.				muscle organ development	integral to membrane|perinuclear region of cytoplasm	sugar binding			kidney(1)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		all_epithelial(11;0.21)		Epithelial(23;0.000191)|all cancers(11;0.000827)|LUSC - Lung squamous cell carcinoma(23;0.00646)|Lung(58;0.0129)|OV - Ovarian serous cystadenocarcinoma(11;0.017)|COAD - Colon adenocarcinoma(22;0.03)|Colorectal(24;0.0917)		ACCCGGGACAGGGATTTCTGA	0.498													4	61					0.00909568	0.00909568	1	1	0	T	19629023	G	T	19629023	3	4	396	1	0	0	0	0	1	0	0	0	3386	1000	35	4	283	4	CHODL	21	19629023	Missense_Mutation	SNP	G	TCGA-QH-A870-01A-11D-A36O-08		19629023	28500872	24	33327											
ITSN1	6453	broad.mit.edu	37	21	35237613	35237613	+	Frame_Shift_Del	DEL	C	C	-			TCGA-QH-A870-01A-11D-A36O-08	TCGA-QH-A870-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21c70b19-0954-49d7-bc5b-f8acc395a327	e3089585-00a8-498f-9edc-e7ebf283be39	g.chr21:35237613delC	ENST00000381318.3	+	32	4337	c.4049delC	c.(4048-4050)gccfs	p.A1350fs	AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000399326.3_3'UTR|ITSN1_ENST00000399367.3_Frame_Shift_Del_p.A1345fs|ITSN1_ENST00000381285.4_Frame_Shift_Del_p.A1350fs|ITSN1_ENST00000437442.2_Frame_Shift_Del_p.A1345fs	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	1350	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						ACGGATGAGGCCCCAGACTTC	0.607													2	4	---	---	---	---						-	35237613	C	-	35237613	7	5	396	1	0	1	0	1	0	0	0	0	7970	739	26	0	4177	0	ITSN1	21	35237613	Frame_Shift_Del	DEL	C	TCGA-QH-A870-01A-11D-A36O-08	15608590	35237613	12892282	25	33328											
ATRX	546	broad.mit.edu	37	X	76939354	76939354	+	Nonsense_Mutation	SNP	G	G	C			TCGA-QH-A870-01A-11D-A36O-08	TCGA-QH-A870-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21c70b19-0954-49d7-bc5b-f8acc395a327	e3089585-00a8-498f-9edc-e7ebf283be39	g.chrX:76939354G>C	ENST00000373344.5	-	9	1608	c.1394C>G	c.(1393-1395)tCa>tGa	p.S465*	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Nonsense_Mutation_p.S427*	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	465					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)	CTGTTTTCTTGAAAGTTTAGC	0.353			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						141	245					0	0	1	0	0	C	76939354	G	C	76939354	4	2	396	1	0	0	0	0	0	1	0	0	1206	1294	45	5	6192	5	ATRX	23	76939354	Nonsense_Mutation	SNP	G	TCGA-QH-A870-01A-11D-A36O-08		76939354	78331206	26	33329											
CHM	1121	broad.mit.edu	37	X	85218743	85218743	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A870-01A-11D-A36O-08	TCGA-QH-A870-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21c70b19-0954-49d7-bc5b-f8acc395a327	e3089585-00a8-498f-9edc-e7ebf283be39	g.chrX:85218743G>A	ENST00000357749.2	-	5	658	c.629C>T	c.(628-630)cCa>cTa	p.P210L	CHM_ENST00000537751.1_Missense_Mutation_p.P62L|CHM_ENST00000467744.2_Intron	NM_000390.2	NP_000381.1	P24386	RAE1_HUMAN	choroideremia (Rab escort protein 1)	210					intracellular protein transport|protein geranylgeranylation|response to stimulus|visual perception	Rab-protein geranylgeranyltransferase complex	GTPase activator activity|Rab geranylgeranyltransferase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|prostate(1)	20		all_lung(315;5.41e-06)				GTTTTTCTTTGGTTGCTCTGT	0.333													42	66					0	0	1	0	0	A	85218743	G	A	85218743	3	1	396	1	0	0	0	0	1	0	0	0	3372	1348	47	2	1376	2	CHM	23	85218743	Missense_Mutation	SNP	G	TCGA-QH-A870-01A-11D-A36O-08	8279389	85218743	70051817	27	33330											
SPTA1	6708	broad.mit.edu	37	1	158596678	158596678	+	Silent	SNP	A	A	G			TCGA-R8-A6MK-01A-11D-A32B-08	TCGA-R8-A6MK-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527952da-86f1-497f-9891-a7728bb2699a	a1a9a719-4580-47e5-b1cf-ee58268f754f	g.chr1:158596678A>G	ENST00000368147.4	-	41	5964	c.5784T>C	c.(5782-5784)taT>taC	p.Y1928Y		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)						actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CCTGAAAGGCATAATCGTCTT	0.438													70	84					0	0	1	0	0	G	158596678	A	G	158596678	2	3	397	1	0	0	0	0	0	0	0	1	15172	224	8	3		3	SPTA1	1	158596678	Silent	SNP	A	TCGA-R8-A6MK-01A-11D-A32B-08		158596678	90653943	1	33331											
TBR1	10716	broad.mit.edu	37	2	162275516	162275516	+	Silent	SNP	C	C	T			TCGA-R8-A6MK-01A-11D-A32B-08	TCGA-R8-A6MK-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527952da-86f1-497f-9891-a7728bb2699a	a1a9a719-4580-47e5-b1cf-ee58268f754f	g.chr2:162275516C>T	ENST00000389554.3	+	4	1400	c.1083C>T	c.(1081-1083)ttC>ttT	p.F361F	TBR1_ENST00000410035.1_Silent_p.F74F	NM_006593.2	NP_006584.1	Q16650	TBR1_HUMAN	T-box, brain, 1	361						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(3)	30						CGTTCACTTTCCCTGAGACTC	0.632													43	72					0	0	1	0	0	T	162275516	C	T	162275516	2	4	397	1	0	0	0	0	0	0	0	1	15707	854	30	2		2	TBR1	2	162275516	Silent	SNP	C	TCGA-R8-A6MK-01A-11D-A32B-08		162275516	80923857	2	33332											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-R8-A6MK-01A-11D-A32B-08	TCGA-R8-A6MK-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527952da-86f1-497f-9891-a7728bb2699a	a1a9a719-4580-47e5-b1cf-ee58268f754f	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	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								20	35					0	0	1	0	0	T	209113112	C	T	209113112	3	4	397	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-R8-A6MK-01A-11D-A32B-08	46837596	209113112	34086261	3	33333											
FBLN2	2199	broad.mit.edu	37	3	13670699	13670699	+	Missense_Mutation	SNP	G	G	A	rs111284875		TCGA-R8-A6MK-01A-11D-A32B-08	TCGA-R8-A6MK-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527952da-86f1-497f-9891-a7728bb2699a	a1a9a719-4580-47e5-b1cf-ee58268f754f	g.chr3:13670699G>A	ENST00000404922.3	+	13	2868	c.2749G>A	c.(2749-2751)Ggt>Agt	p.G917S	FBLN2_ENST00000492059.1_Missense_Mutation_p.G917S|FBLN2_ENST00000535798.1_Missense_Mutation_p.G896S|FBLN2_ENST00000295760.7_Missense_Mutation_p.G870S	NM_001004019.1	NP_001004019.1	P98095	FBLN2_HUMAN	fibulin 2	913	EGF-like 7; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			GCACCGCTGCGGTGAGGGCCA	0.642													10	27					0	0	1	0	0	A	13670699	G	A	13670699	3	1	397	1	0	0	0	0	1	0	0	0	5732	1116	39	1	1485	1	FBLN2	3	13670699	Missense_Mutation	SNP	G	TCGA-R8-A6MK-01A-11D-A32B-08		13670699	184351731	4	33334											
TMEM41A	90407	broad.mit.edu	37	3	185212517	185212518	+	Frame_Shift_Ins	INS	-	-	A	rs150885877	byFrequency	TCGA-R8-A6MK-01A-11D-A32B-08	TCGA-R8-A6MK-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527952da-86f1-497f-9891-a7728bb2699a	a1a9a719-4580-47e5-b1cf-ee58268f754f	g.chr3:185212517_185212518insA	ENST00000421852.1	-	4	562_563	c.467_468insT	c.(466-468)ttcfs	p.F156fs	TMEM41A_ENST00000296254.3_Intron|TMEM41A_ENST00000475480.1_5'UTR	NM_080652.3	NP_542383.1	Q96HV5	TM41A_HUMAN	transmembrane protein 41A	156						integral to membrane				large_intestine(1)|lung(2)|skin(1)	4	all_cancers(143;7.78e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			AAAACAATAAGAAAAAAAACAA	0.446													9	184	---	---	---	---						A	185212518	-	A	185212517	7	5	397	1	0	1	1	0	0	0	0	0	16224	933	33	0	334	0	TMEM41A	3	185212517	Frame_Shift_Ins	INS	-	TCGA-R8-A6MK-01A-11D-A32B-08	171541818	185212517	12809913	5	33335											
HTT	3064	broad.mit.edu	37	4	3214422	3214422	+	Missense_Mutation	SNP	G	G	A			TCGA-R8-A6MK-01A-11D-A32B-08	TCGA-R8-A6MK-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527952da-86f1-497f-9891-a7728bb2699a	a1a9a719-4580-47e5-b1cf-ee58268f754f	g.chr4:3214422G>A	ENST00000355072.5	+	49	6905	c.6760G>A	c.(6760-6762)Gtg>Atg	p.V2254M		NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin	2254					establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		GAAATTCGTGGTGGCAACCCT	0.547													15	74					0	0	1	0	0	A	3214422	G	A	3214422	3	1	397	1	0	0	0	0	1	0	0	0	7501	1261	44	2	6954	2	HTT	4	3214422	Missense_Mutation	SNP	G	TCGA-R8-A6MK-01A-11D-A32B-08		3214422	187939854	6	33336											
ARAP2	116984	broad.mit.edu	37	4	36121334	36121334	+	Missense_Mutation	SNP	C	C	T			TCGA-R8-A6MK-01A-11D-A32B-08	TCGA-R8-A6MK-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527952da-86f1-497f-9891-a7728bb2699a	a1a9a719-4580-47e5-b1cf-ee58268f754f	g.chr4:36121334C>T	ENST00000303965.4	-	24	4390	c.3901G>A	c.(3901-3903)Gaa>Aaa	p.E1301K		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	1301					regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						ACTTGATCTTCTTTAACCTGT	0.299													19	55					0	0	1	0	0	T	36121334	C	T	36121334	3	4	397	1	0	0	0	0	1	0	0	0	836	922	32	2	1253	2	ARAP2	4	36121334	Missense_Mutation	SNP	C	TCGA-R8-A6MK-01A-11D-A32B-08	32906912	36121334	155032942	7	33337											
INPP4B	8821	broad.mit.edu	37	4	143094935	143094935	+	Silent	SNP	T	T	A			TCGA-R8-A6MK-01A-11D-A32B-08	TCGA-R8-A6MK-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527952da-86f1-497f-9891-a7728bb2699a	a1a9a719-4580-47e5-b1cf-ee58268f754f	g.chr4:143094935T>A	ENST00000513000.1	-	17	1642	c.1209A>T	c.(1207-1209)tcA>tcT	p.S403S	INPP4B_ENST00000308502.4_Silent_p.S403S|INPP4B_ENST00000509777.1_Silent_p.S403S|INPP4B_ENST00000508116.1_Silent_p.S403S|INPP4B_ENST00000262992.4_Silent_p.S403S	NM_003866.2	NP_003857.2	O15327	INP4B_HUMAN	inositol polyphosphate-4-phosphatase, type II, 105kDa	403					signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(29)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58	all_hematologic(180;0.158)					TGTTTTCAGGTGAATAGTAAA	0.383													36	66					0	0	1	0	0	A	143094935	T	A	143094935	2	1	397	1	0	0	0	0	0	0	0	1	7797	1683	59	5		5	INPP4B	4	143094935	Silent	SNP	T	TCGA-R8-A6MK-01A-11D-A32B-08	106973601	143094935	48059341	8	33338											
AGXT2	64902	broad.mit.edu	37	5	35037113	35037113	+	Silent	SNP	G	G	A			TCGA-R8-A6MK-01A-11D-A32B-08	TCGA-R8-A6MK-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527952da-86f1-497f-9891-a7728bb2699a	a1a9a719-4580-47e5-b1cf-ee58268f754f	g.chr5:35037113G>A	ENST00000231420.6	-	4	620	c.420C>T	c.(418-420)gtC>gtT	p.V140V		NM_031900.3	NP_114106.1	Q9BYV1	AGT2_HUMAN	alanine--glyoxylate aminotransferase 2	140			V -> I (in dbSNP:rs37369).		glyoxylate metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	mitochondrial matrix	(R)-3-amino-2-methylpropionate-pyruvate transaminase activity|alanine-glyoxylate transaminase activity|pyridoxal phosphate binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(18)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	41	all_lung(31;4.52e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)	GBM - Glioblastoma multiforme(108;0.181)	Glycine(DB00145)|L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)	GGTGGAAGAAGACGGTGCTTG	0.517													7	59					0	0	1	0	0	A	35037113	G	A	35037113	2	1	397	1	0	0	0	0	0	0	0	1	402	929	33	2		2	AGXT2	5	35037113	Silent	SNP	G	TCGA-R8-A6MK-01A-11D-A32B-08		35037113	145878147	9	33339											
RAD50	10111	broad.mit.edu	37	5	131893129	131893129	+	Missense_Mutation	SNP	A	A	G			TCGA-R8-A6MK-01A-11D-A32B-08	TCGA-R8-A6MK-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527952da-86f1-497f-9891-a7728bb2699a	a1a9a719-4580-47e5-b1cf-ee58268f754f	g.chr5:131893129A>G	ENST00000265335.6	+	1	500	c.113A>G	c.(112-114)aAt>aGt	p.N38S	RAD50_ENST00000378823.3_5'UTR			Q92878	RAD50_HUMAN	RAD50 homolog (S. cerevisiae)	38					DNA duplex unwinding|double-strand break repair via homologous recombination|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|telomere maintenance via telomerase	Mre11 complex|nuclear chromosome, telomeric region|nucleoplasm	ATP binding|DNA binding|nuclease activity|protein binding, bridging|zinc ion binding			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		all_cancers(142;0.0368)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GTTGGACCCAATGGGGCGGGA	0.453								Homologous recombination					22	33					0	0	1	0	0	G	131893129	A	G	131893129	3	3	397	1	0	0	0	0	1	0	0	0	13036	101	4	3	115	3	RAD50	5	131893129	Missense_Mutation	SNP	A	TCGA-R8-A6MK-01A-11D-A32B-08	96856016	131893129	49022131	10	33340											
DSP	1832	broad.mit.edu	37	6	7576615	7576615	+	Missense_Mutation	SNP	C	C	T			TCGA-R8-A6MK-01A-11D-A32B-08	TCGA-R8-A6MK-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527952da-86f1-497f-9891-a7728bb2699a	a1a9a719-4580-47e5-b1cf-ee58268f754f	g.chr6:7576615C>T	ENST00000379802.3	+	19	3060	c.2719C>T	c.(2719-2721)Cgc>Tgc	p.R907C	DSP_ENST00000418664.2_Missense_Mutation_p.R907C	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	907	Globular 1.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		TGATGCTAAACGCCGCCAGGA	0.423													32	40					0	0	1	0	0	T	7576615	C	T	7576615	3	4	397	1	0	0	0	0	1	0	0	0	4807	536	19	1	2793	1	DSP	6	7576615	Missense_Mutation	SNP	C	TCGA-R8-A6MK-01A-11D-A32B-08		7576615	163538452	11	33341											
PRSS16	10279	broad.mit.edu	37	6	27216911	27216911	+	Missense_Mutation	SNP	G	G	A	rs149942995		TCGA-R8-A6MK-01A-11D-A32B-08	TCGA-R8-A6MK-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527952da-86f1-497f-9891-a7728bb2699a	a1a9a719-4580-47e5-b1cf-ee58268f754f	g.chr6:27216911G>A	ENST00000230582.3	+	4	385	c.370G>A	c.(370-372)Gcc>Acc	p.A124T	PRSS16_ENST00000421826.2_Intron	NM_005865.3	NP_005856.1	Q9NQE7	TSSP_HUMAN	protease, serine, 16 (thymus)	124					protein catabolic process|proteolysis	cytoplasmic membrane-bounded vesicle	serine-type peptidase activity	p.A124T(1)		central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						AGCCTGGGGCGCCCTGGTGAT	0.592													7	65					0	0	1	0	0	A	27216911	G	A	27216911	3	1	397	1	0	0	0	0	1	0	0	0	12666	1087	38	1	384	1	PRSS16	6	27216911	Missense_Mutation	SNP	G	TCGA-R8-A6MK-01A-11D-A32B-08	19640296	27216911	143898156	12	33342											
PLG	5340	broad.mit.edu	37	6	161143573	161143573	+	Silent	SNP	G	G	A			TCGA-R8-A6MK-01A-11D-A32B-08	TCGA-R8-A6MK-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527952da-86f1-497f-9891-a7728bb2699a	a1a9a719-4580-47e5-b1cf-ee58268f754f	g.chr6:161143573G>A	ENST00000308192.9	+	10	1293	c.1230G>A	c.(1228-1230)caG>caA	p.Q410Q		NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	410	Kringle 4.				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	ACCGGCACCAGAAGACCCCAG	0.483													12	151					0	0	1	0	0	A	161143573	G	A	161143573	2	1	397	1	0	0	0	0	0	0	0	1	12134	933	33	2		2	PLG	6	161143573	Silent	SNP	G	TCGA-R8-A6MK-01A-11D-A32B-08	133926662	161143573	9971494	13	33343											
PTPRZ1	5803	broad.mit.edu	37	7	121676713	121676713	+	Missense_Mutation	SNP	T	T	C			TCGA-R8-A6MK-01A-11D-A32B-08	TCGA-R8-A6MK-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527952da-86f1-497f-9891-a7728bb2699a	a1a9a719-4580-47e5-b1cf-ee58268f754f	g.chr7:121676713T>C	ENST00000393386.2	+	18	5755	c.5344T>C	c.(5344-5346)Tat>Cat	p.Y1782H	PTPRZ1_ENST00000449182.1_Missense_Mutation_p.Y915H	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	1782	Tyrosine-protein phosphatase 1.				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						ACTGACTGATTATATCAATGC	0.303													21	28					0	0	1	0	0	C	121676713	T	C	121676713	3	2	397	1	0	0	0	0	1	0	0	0	12866	1754	61	3	5414	3	PTPRZ1	7	121676713	Missense_Mutation	SNP	T	TCGA-R8-A6MK-01A-11D-A32B-08		121676713	37461950	14	33344											
EYA1	2138	broad.mit.edu	37	8	72156845	72156845	+	Missense_Mutation	SNP	T	T	C			TCGA-R8-A6MK-01A-11D-A32B-08	TCGA-R8-A6MK-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527952da-86f1-497f-9891-a7728bb2699a	a1a9a719-4580-47e5-b1cf-ee58268f754f	g.chr8:72156845T>C	ENST00000340726.3	-	12	1772	c.1133A>G	c.(1132-1134)gAc>gGc	p.D378G	EYA1_ENST00000388741.2_Missense_Mutation_p.D344G|EYA1_ENST00000419131.1_Intron|EYA1_ENST00000388742.4_Missense_Mutation_p.D378G|EYA1_ENST00000303824.7_Missense_Mutation_p.D372G|EYA1_ENST00000388743.2_Missense_Mutation_p.D377G|EYA1_ENST00000388740.3_Missense_Mutation_p.D345G	NM_000503.4	NP_000494.2	Q99502	EYA1_HUMAN	eyes absent homolog 1 (Drosophila)	378					double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			TACTTCTAAGTCATTAAAAAA	0.279													9	15					0	0	1	0	0	C	72156845	T	C	72156845	3	2	397	1	0	0	0	0	1	0	0	0	5356	1667	58	3	673	3	EYA1	8	72156845	Missense_Mutation	SNP	T	TCGA-R8-A6MK-01A-11D-A32B-08		72156845	74207177	15	33345											
CPEB3	22849	broad.mit.edu	37	10	93870871	93870872	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-R8-A6MK-01A-11D-A32B-08	TCGA-R8-A6MK-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527952da-86f1-497f-9891-a7728bb2699a	a1a9a719-4580-47e5-b1cf-ee58268f754f	g.chr10:93870871_93870872delAG	ENST00000412050.4	-	7	1579_1580	c.1491_1492delCT	c.(1489-1494)ctctacfs	p.Y498fs	CPEB3_ENST00000265997.4_Frame_Shift_Del_p.Y512fs	NM_001178137.1	NP_001171608.1	Q8NE35	CPEB3_HUMAN	cytoplasmic polyadenylation element binding protein 3	512	RRM 1.						nucleotide binding|RNA binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(2)	18		Colorectal(252;0.0869)				ACACACAGGTAGAGTTTCCCAT	0.465													17	132	---	---	---	---						-	93870872	AG	-	93870871	7	5	397	1	0	1	0	1	0	0	0	0	3825	420	15	0	578	0	CPEB3	10	93870871	Frame_Shift_Del	DEL	AG	TCGA-R8-A6MK-01A-11D-A32B-08		93870871	41663876	16	33346											
SLC22A20	440044	broad.mit.edu	37	11	64981480	64981481	+	RNA	INS	-	-	C			TCGA-R8-A6MK-01A-11D-A32B-08	TCGA-R8-A6MK-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527952da-86f1-497f-9891-a7728bb2699a	a1a9a719-4580-47e5-b1cf-ee58268f754f	g.chr11:64981480_64981481insC	ENST00000525437.1	+	0	170_171							A6NK97	S22AK_HUMAN							ion transport	integral to membrane	transmembrane transporter activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(2)	8						ACGGCCGCTGTCCCCCCCCACC	0.693													2	4	---	---	---	---						C	64981481	-	C	64981480	6	5	397	0	1	1	1	0	0	0	0	0	14507	1667	58	0		0	SLC22A20	11	64981480	RNA	INS	-	TCGA-R8-A6MK-01A-11D-A32B-08		64981480	70025036	17	33347											
CCS	9973	broad.mit.edu	37	11	66368006	66368006	+	Nonsense_Mutation	SNP	C	C	T			TCGA-R8-A6MK-01A-11D-A32B-08	TCGA-R8-A6MK-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527952da-86f1-497f-9891-a7728bb2699a	a1a9a719-4580-47e5-b1cf-ee58268f754f	g.chr11:66368006C>T	ENST00000533244.1	+	5	916	c.475C>T	c.(475-477)Cag>Tag	p.Q159*	CCS_ENST00000310190.4_Nonsense_Mutation_p.Q140*	NM_005125.1	NP_005116.1	O14618	CCS_HUMAN	copper chaperone for superoxide dismutase	159	Superoxide dismutase-like.				intracellular copper ion transport|oxidation-reduction process|removal of superoxide radicals	cytosol|mitochondrial inner membrane|nucleus|soluble fraction	copper ion transmembrane transporter activity|protein binding|superoxide dismutase copper chaperone activity|zinc ion binding			breast(2)|cervix(1)|large_intestine(2)|lung(3)|stomach(1)	9						TGGGGGCCCCCAGGACTCTGA	0.562													4	70					0	0	1	0	0	T	66368006	C	T	66368006	4	4	397	1	0	0	0	0	0	1	0	0	2974	595	21	2	493	2	CCS	11	66368006	Nonsense_Mutation	SNP	C	TCGA-R8-A6MK-01A-11D-A32B-08	1386526	66368006	68638510	18	33348											
KRT6A	3853	broad.mit.edu	37	12	52886575	52886575	+	Missense_Mutation	SNP	C	C	T			TCGA-R8-A6MK-01A-11D-A32B-08	TCGA-R8-A6MK-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527952da-86f1-497f-9891-a7728bb2699a	a1a9a719-4580-47e5-b1cf-ee58268f754f	g.chr12:52886575C>T	ENST00000330722.6	-	1	466	c.398G>A	c.(397-399)gGa>gAa	p.G133E		NM_005554.3	NP_005545.1	P02538	K2C6A_HUMAN	keratin 6A	133	Head.				cell differentiation|ectoderm development|positive regulation of cell proliferation	keratin filament	protein binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	39				BRCA - Breast invasive adenocarcinoma(357;0.189)		TTGGATGCCTCCAGGGGGGCA	0.632													22	23					0	0	1	0	0	T	52886575	C	T	52886575	3	4	397	1	0	0	0	0	1	0	0	0	8523	855	30	2	1332	2	KRT6A	12	52886575	Missense_Mutation	SNP	C	TCGA-R8-A6MK-01A-11D-A32B-08		52886575	80965320	19	33349											
LRP1	4035	broad.mit.edu	37	12	57589082	57589084	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-R8-A6MK-01A-11D-A32B-08	TCGA-R8-A6MK-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527952da-86f1-497f-9891-a7728bb2699a	a1a9a719-4580-47e5-b1cf-ee58268f754f	g.chr12:57589082_57589084delCTC	ENST00000243077.3	+	52	8803_8805	c.8337_8339delCTC	c.(8335-8340)ttctcc>ttc	p.S2780del		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	2780	LDL-receptor class A 17.				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CCTCCTCCTTCTCCTGCCCTGGC	0.611													58	132	---	---	---	---						-	57589084	CTC	-	57589082	7	5	397	1	0	1	0	1	0	0	0	0	8996	912	32	0	8543	0	LRP1	12	57589082	In_Frame_Del	DEL	CTC	TCGA-R8-A6MK-01A-11D-A32B-08	4702507	57589082	76262813	20	33350											
CUX2	23316	broad.mit.edu	37	12	111748437	111748437	+	Silent	SNP	G	G	A			TCGA-R8-A6MK-01A-11D-A32B-08	TCGA-R8-A6MK-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527952da-86f1-497f-9891-a7728bb2699a	a1a9a719-4580-47e5-b1cf-ee58268f754f	g.chr12:111748437G>A	ENST00000261726.6	+	15	2005	c.1851G>A	c.(1849-1851)tcG>tcA	p.S617S		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	617						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						AGTTCCTGTCGGATGAGCAGA	0.652													27	28					0	0	1	0	0	A	111748437	G	A	111748437	2	1	397	1	0	0	0	0	0	0	0	1	4088	1103	39	1		1	CUX2	12	111748437	Silent	SNP	G	TCGA-R8-A6MK-01A-11D-A32B-08	54159355	111748437	22103458	21	33351											
NEDD4	4734	broad.mit.edu	37	15	56132818	56132818	+	Missense_Mutation	SNP	C	C	T			TCGA-R8-A6MK-01A-11D-A32B-08	TCGA-R8-A6MK-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527952da-86f1-497f-9891-a7728bb2699a	a1a9a719-4580-47e5-b1cf-ee58268f754f	g.chr15:56132818C>T	ENST00000508342.1	-	16	3502	c.3203G>A	c.(3202-3204)gGc>gAc	p.G1068D	NEDD4_ENST00000338963.2_Missense_Mutation_p.G996D|NEDD4_ENST00000506154.1_Missense_Mutation_p.G1052D|NEDD4_ENST00000435532.3_Missense_Mutation_p.G649D	NM_001284338.1	NP_001271267.1	P46934	NEDD4_HUMAN	neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase	1068	HECT.				development involved in symbiotic interaction|glucocorticoid receptor signaling pathway|negative regulation of sodium ion transport|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage|negative regulation of vascular endothelial growth factor receptor signaling pathway|neuron projection development|positive regulation of nucleocytoplasmic transport|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein catabolic process|progesterone receptor signaling pathway|protein K63-linked ubiquitination|protein targeting to lysosome|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|receptor internalization|regulation of dendrite morphogenesis|response to calcium ion|transmission of virus	apicolateral plasma membrane|cell cortex|chromatin|cytosol|perinuclear region of cytoplasm|ubiquitin ligase complex	beta-2 adrenergic receptor binding|phosphoserine binding|phosphothreonine binding|proline-rich region binding|protein domain specific binding|RNA polymerase binding|sodium channel inhibitor activity|ubiquitin binding|ubiquitin-protein ligase activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	43				all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)		CAACAGTTTGCCATGATAAAC	0.338													4	115					0	0	1	0	0	T	56132818	C	T	56132818	3	4	397	1	0	0	0	0	1	0	0	0	10357	739	26	2	796	2	NEDD4	15	56132818	Missense_Mutation	SNP	C	TCGA-R8-A6MK-01A-11D-A32B-08		56132818	46398574	22	33352											
IFT140	9742	broad.mit.edu	37	16	1570263	1570263	+	Missense_Mutation	SNP	T	T	C			TCGA-R8-A6MK-01A-11D-A32B-08	TCGA-R8-A6MK-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527952da-86f1-497f-9891-a7728bb2699a	a1a9a719-4580-47e5-b1cf-ee58268f754f	g.chr16:1570263T>C	ENST00000426508.2	-	28	4105	c.3742A>G	c.(3742-3744)Atc>Gtc	p.I1248V	IFT140_ENST00000361339.5_Missense_Mutation_p.I442V	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN	intraflagellar transport 140 homolog (Chlamydomonas)	1248										breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				GCAGCCATGATGTAGATTTCC	0.577													50	65					0	0	1	0	0	C	1570263	T	C	1570263	3	2	397	1	0	0	0	0	1	0	0	0	7600	1464	51	3	662	3	IFT140	16	1570263	Missense_Mutation	SNP	T	TCGA-R8-A6MK-01A-11D-A32B-08		1570263	88784490	23	33353											
PPL	5493	broad.mit.edu	37	16	4935555	4935557	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-R8-A6MK-01A-11D-A32B-08	TCGA-R8-A6MK-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527952da-86f1-497f-9891-a7728bb2699a	a1a9a719-4580-47e5-b1cf-ee58268f754f	g.chr16:4935555_4935557delAGG	ENST00000345988.2	-	22	3188_3190	c.3099_3101delCCT	c.(3097-3102)ctcctg>ctg	p.1033_1034LL>L	PPL_ENST00000590782.2_In_Frame_Del_p.1031_1032LL>L	NM_002705.4	NP_002696	O60437	PEPL_HUMAN	periplakin	1033					keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						ACGCTGCTGCAGGAGGAGCACCT	0.66													24	59	---	---	---	---						-	4935557	AGG	-	4935555	7	5	397	1	0	1	0	1	0	0	0	0	12383	188	7	0	2173	0	PPL	16	4935555	In_Frame_Del	DEL	AGG	TCGA-R8-A6MK-01A-11D-A32B-08	3365292	4935555	85419198	24	33354											
RBBP6	5930	broad.mit.edu	37	16	24582708	24582709	+	Frame_Shift_Del	DEL	AA	AA	-	rs140198744	byFrequency	TCGA-R8-A6MK-01A-11D-A32B-08	TCGA-R8-A6MK-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527952da-86f1-497f-9891-a7728bb2699a	a1a9a719-4580-47e5-b1cf-ee58268f754f	g.chr16:24582708_24582709delAA	ENST00000319715.4	+	18	4753_4754	c.4321_4322delAA	c.(4321-4323)aaafs	p.K1441fs	RBBP6_ENST00000381039.3_Frame_Shift_Del_p.K601fs|RBBP6_ENST00000348022.2_Frame_Shift_Del_p.K1407fs	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	1441	Interaction with p53 (By similarity).				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		AGGAAATTTTAAAAGTCTGTCT	0.391													25	81	---	---	---	---						-	24582709	AA	-	24582708	7	5	397	1	0	1	0	1	0	0	0	0	13155	363	13	0	4445	0	RBBP6	16	24582708	Frame_Shift_Del	DEL	AA	TCGA-R8-A6MK-01A-11D-A32B-08	19647153	24582708	65772045	25	33355											
ATP2A1	487	broad.mit.edu	37	16	28909640	28909640	+	Silent	SNP	G	G	A			TCGA-R8-A6MK-01A-11D-A32B-08	TCGA-R8-A6MK-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527952da-86f1-497f-9891-a7728bb2699a	a1a9a719-4580-47e5-b1cf-ee58268f754f	g.chr16:28909640G>A	ENST00000395503.4	+	14	1816	c.1632G>A	c.(1630-1632)aaG>aaA	p.K544K	ATP2A1_ENST00000357084.3_Silent_p.K544K|ATP2A1_ENST00000536376.1_Silent_p.K419K	NM_004320.4	NP_004311.1	O14983	AT2A1_HUMAN	ATPase, Ca++ transporting, cardiac muscle, fast twitch 1	544					apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|ATP biosynthetic process|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress	endoplasmic reticulum membrane|ER-Golgi intermediate compartment|H zone|I band|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	38						TGAAGGAAAAGATCATGGCGG	0.652													6	84					0	0	1	0	0	A	28909640	G	A	28909640	2	1	397	1	0	0	0	0	0	0	0	1	1135	933	33	2		2	ATP2A1	16	28909640	Silent	SNP	G	TCGA-R8-A6MK-01A-11D-A32B-08	4326932	28909640	61445113	26	33356											
GEMIN4	50628	broad.mit.edu	37	17	648477	648477	+	Missense_Mutation	SNP	A	A	G			TCGA-R8-A6MK-01A-11D-A32B-08	TCGA-R8-A6MK-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527952da-86f1-497f-9891-a7728bb2699a	a1a9a719-4580-47e5-b1cf-ee58268f754f	g.chr17:648477A>G	ENST00000576778.1	-	1	4114	c.2773T>C	c.(2773-2775)Tgg>Cgg	p.W925R	GEMIN4_ENST00000319004.5_Missense_Mutation_p.W936R			P57678	GEMI4_HUMAN	gem (nuclear organelle) associated protein 4	936					rRNA processing|spliceosomal snRNP assembly	Cajal body|cytosol|nucleolus|small nuclear ribonucleoprotein complex|spliceosomal complex	protein binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		Myeloproliferative disorder(207;0.204)		UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		ACGTGGTTCCAGCCTTCCAGA	0.577													2	2					0	0	1	0	0	G	648477	A	G	648477	3	3	397	1	0	0	0	0	1	0	0	0	6372	188	7	3	374	3	GEMIN4	17	648477	Missense_Mutation	SNP	A	TCGA-R8-A6MK-01A-11D-A32B-08		648477	80546733	27	33357											
CACNA1G	8913	broad.mit.edu	37	17	48646633	48646633	+	Silent	SNP	G	G	A			TCGA-R8-A6MK-01A-11D-A32B-08	TCGA-R8-A6MK-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527952da-86f1-497f-9891-a7728bb2699a	a1a9a719-4580-47e5-b1cf-ee58268f754f	g.chr17:48646633G>A	ENST00000352832.5	+	3	834	c.462G>A	c.(460-462)cgG>cgA	p.R154R	CACNA1G_ENST00000503485.1_Silent_p.R154R|CACNA1G_ENST00000510115.1_Silent_p.R154R|CACNA1G_ENST00000515165.1_Silent_p.R154R|CACNA1G_ENST00000515765.1_Silent_p.R154R|CACNA1G_ENST00000502264.1_Silent_p.R154R|CACNA1G_ENST00000510366.1_Silent_p.R154R|CACNA1G_ENST00000507896.1_Silent_p.R154R|CACNA1G_ENST00000429973.2_Silent_p.R154R|CACNA1G_ENST00000358244.5_Silent_p.R154R|CACNA1G_ENST00000507510.2_Silent_p.R154R|CACNA1G_ENST00000514079.1_Silent_p.R154R|CACNA1G_ENST00000416767.4_Silent_p.R154R|CACNA1G_ENST00000507609.1_Silent_p.R154R|CACNA1G_ENST00000514181.1_Silent_p.R154R|CACNA1G_ENST00000505165.1_Silent_p.R154R|CACNA1G_ENST00000513689.2_Silent_p.R154R|CACNA1G_ENST00000507336.1_Silent_p.R154R|CACNA1G_ENST00000512389.1_Silent_p.R154R|CACNA1G_ENST00000360761.4_Silent_p.R154R|CACNA1G_ENST00000354983.4_Silent_p.R154R|CACNA1G_ENST00000515411.1_Silent_p.R154R|CACNA1G_ENST00000514717.1_Silent_p.R154R|CACNA1G_ENST00000442258.2_Silent_p.R154R|CACNA1G_ENST00000359106.5_Silent_p.R154R|CACNA1G_ENST00000513964.1_Silent_p.R154R	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	154					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	CTTGGAACCGGCTTGACTTTT	0.562													4	65					0	0	1	0	0	A	48646633	G	A	48646633	2	1	397	1	0	0	0	0	0	0	0	1	2562	1190	42	2		2	CACNA1G	17	48646633	Silent	SNP	G	TCGA-R8-A6MK-01A-11D-A32B-08	47998156	48646633	32548577	28	33358											
MC2R	4158	broad.mit.edu	37	18	13884744	13884744	+	Silent	SNP	G	G	A			TCGA-R8-A6MK-01A-11D-A32B-08	TCGA-R8-A6MK-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527952da-86f1-497f-9891-a7728bb2699a	a1a9a719-4580-47e5-b1cf-ee58268f754f	g.chr18:13884744G>A	ENST00000327606.3	-	2	954	c.774C>T	c.(772-774)ttC>ttT	p.F258F		NM_000529.2	NP_000520.1	Q01718	ACTHR_HUMAN	melanocortin 2 receptor (adrenocorticotropic hormone)	258					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	corticotropin receptor activity|protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(8)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30					Corticotropin(DB01285)|Cosyntropin(DB01284)	CGTTCACCTGGAAGAGAGACA	0.517													29	30					0	0	1	0	0	A	13884744	G	A	13884744	2	1	397	1	0	0	0	0	0	0	0	1	9414	1165	41	2		2	MC2R	18	13884744	Silent	SNP	G	TCGA-R8-A6MK-01A-11D-A32B-08		13884744	64192504	29	33359											
CTAGE1	64693	broad.mit.edu	37	18	19995803	19995803	+	Missense_Mutation	SNP	G	G	A			TCGA-R8-A6MK-01A-11D-A32B-08	TCGA-R8-A6MK-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527952da-86f1-497f-9891-a7728bb2699a	a1a9a719-4580-47e5-b1cf-ee58268f754f	g.chr18:19995803G>A	ENST00000391403.2	-	1	2075	c.1972C>T	c.(1972-1974)Cct>Tct	p.P658S		NM_172241.2	NP_758441.2	Q96RT6	CTGE2_HUMAN	cutaneous T-cell lymphoma-associated antigen 1	658	Pro-rich.					integral to membrane				cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1)	27	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)					ACAAAGCCAGGGCCAGTTGCT	0.463													10	278					0	0	1	0	0	A	19995803	G	A	19995803	3	1	397	1	0	0	0	0	1	0	0	0	4017	1232	43	2	269	2	CTAGE1	18	19995803	Missense_Mutation	SNP	G	TCGA-R8-A6MK-01A-11D-A32B-08	6111059	19995803	58081445	30	33360											
CIC	23152	broad.mit.edu	37	19	42793215	42793218	+	Frame_Shift_Del	DEL	CAGT	CAGT	-			TCGA-R8-A6MK-01A-11D-A32B-08	TCGA-R8-A6MK-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527952da-86f1-497f-9891-a7728bb2699a	a1a9a719-4580-47e5-b1cf-ee58268f754f	g.chr19:42793215_42793218delCAGT	ENST00000572681.2	+	8	3902_3905	c.3834_3837delCAGT	c.(3832-3837)gacagtfs	p.DS1278fs	CIC_ENST00000575354.2_Frame_Shift_Del_p.DS369fs|CIC_ENST00000160740.3_Frame_Shift_Del_p.DS369fs			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	369	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				GAGAAGTAGACAGTCAGGCGCTAC	0.667			"Mis, F, S"		oligodendroglioma								12	74	---	---	---	---						-	42793218	CAGT	-	42793215	7	5	397	1	0	1	0	1	0	0	0	0	3446	477	17	0	1133	0	CIC	19	42793215	Frame_Shift_Del	DEL	CAGT	TCGA-R8-A6MK-01A-11D-A32B-08		42793215	16335768	31	33361											
ZNF135	7694	broad.mit.edu	37	19	58578565	58578568	+	Frame_Shift_Del	DEL	GAGA	GAGA	-			TCGA-R8-A6MK-01A-11D-A32B-08	TCGA-R8-A6MK-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527952da-86f1-497f-9891-a7728bb2699a	a1a9a719-4580-47e5-b1cf-ee58268f754f	g.chr19:58578565_58578568delGAGA	ENST00000506786.1	+	5	1141_1144	c.587_590delGAGA	c.(586-591)ggagagfs	p.GE196fs	ZNF135_ENST00000401053.4_Frame_Shift_Del_p.GE262fs|ZNF135_ENST00000359978.6_Frame_Shift_Del_p.GE250fs|ZNF135_ENST00000511556.1_Frame_Shift_Del_p.GE250fs|ZNF135_ENST00000313434.5_Frame_Shift_Del_p.GE238fs|ZNF135_ENST00000439855.2_Frame_Shift_Del_p.GE238fs			B4DHH9	B4DHH9_HUMAN	zinc finger protein 135	250					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1)	41		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)		ACGCACACAGGAGAGAGACCTTAC	0.475													17	86	---	---	---	---						-	58578568	GAGA	-	58578565	7	5	397	1	0	1	0	1	0	0	0	0	17783	1174	41	0	916	0	ZNF135	19	58578565	Frame_Shift_Del	DEL	GAGA	TCGA-R8-A6MK-01A-11D-A32B-08	15785350	58578565	550418	32	33362											
FAM167B	84734	broad.mit.edu	37	1	32713189	32713189	+	Missense_Mutation	SNP	G	G	A			TCGA-R8-A6ML-01A-11D-A32B-08	TCGA-R8-A6ML-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f17b0f-b277-44e0-9f28-7accd81f67bd	7af368c2-d9c9-4ca5-a5ac-9d0712d8b9c4	g.chr1:32713189G>A	ENST00000373582.3	+	1	356	c.167G>A	c.(166-168)cGc>cAc	p.R56H		NM_032648.2	NP_116037.2	Q9BTA0	F167B_HUMAN	family with sequence similarity 167, member B	56								p.R56H(1)		endometrium(1)|large_intestine(1)|lung(1)|ovary(2)	5						CAGGCCTGGCGCAGGGCCCAA	0.637													7	30					0	0	1	0	0	A	32713189	G	A	32713189	3	1	398	1	0	0	0	0	1	0	0	0	5514	1087	38	1	169	1	FAM167B	1	32713189	Missense_Mutation	SNP	G	TCGA-R8-A6ML-01A-11D-A32B-08		32713189	216537432	1	33363											
SYCP1	6847	broad.mit.edu	37	1	115520223	115520224	+	Frame_Shift_Ins	INS	-	-	A			TCGA-R8-A6ML-01A-11D-A32B-08	TCGA-R8-A6ML-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f17b0f-b277-44e0-9f28-7accd81f67bd	7af368c2-d9c9-4ca5-a5ac-9d0712d8b9c4	g.chr1:115520223_115520224insA	ENST00000369522.3	+	28	2608_2609	c.2368_2369insA	c.(2368-2370)gaafs	p.E790fs	SYCP1_ENST00000477590.1_3'UTR|SYCP1_ENST00000369518.1_Frame_Shift_Ins_p.E790fs	NM_001282541.1|NM_003176.2	NP_001269470.1|NP_003167.2	Q15431	SYCP1_HUMAN	synaptonemal complex protein 1	790					cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding		RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TACTCTTAAAGAAAAAAAAGAC	0.252													2	4	---	---	---	---						A	115520224	-	A	115520223	7	5	398	1	0	1	1	0	0	0	0	0	15488	943	33	0	2474	0	SYCP1	1	115520223	Frame_Shift_Ins	INS	-	TCGA-R8-A6ML-01A-11D-A32B-08	82807034	115520223	133730398	2	33364											
FAM71A	149647	broad.mit.edu	37	1	212798743	212798743	+	Missense_Mutation	SNP	G	G	A			TCGA-R8-A6ML-01A-11D-A32B-08	TCGA-R8-A6ML-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f17b0f-b277-44e0-9f28-7accd81f67bd	7af368c2-d9c9-4ca5-a5ac-9d0712d8b9c4	g.chr1:212798743G>A	ENST00000294829.3	+	1	955	c.524G>A	c.(523-525)cGg>cAg	p.R175Q	RP11-338C15.5_ENST00000427949.1_RNA	NM_153606.3	NP_705834.2	Q8IYT1	FA71A_HUMAN	family with sequence similarity 71, member A	175										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(12)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094)		TACCTCTTGCGGCCACCCATG	0.517													85	128					0	0	1	0	0	A	212798743	G	A	212798743	3	1	398	1	0	0	0	0	1	0	0	0	5642	1116	39	1	526	1	FAM71A	1	212798743	Missense_Mutation	SNP	G	TCGA-R8-A6ML-01A-11D-A32B-08	97278520	212798743	36451878	3	33365											
NT5C1B	93034	broad.mit.edu	37	2	18768318	18768318	+	Missense_Mutation	SNP	C	C	T	rs150116798	byFrequency	TCGA-R8-A6ML-01A-11D-A32B-08	TCGA-R8-A6ML-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f17b0f-b277-44e0-9f28-7accd81f67bd	7af368c2-d9c9-4ca5-a5ac-9d0712d8b9c4	g.chr2:18768318C>T	ENST00000359846.2	-	3	319	c.242G>A	c.(241-243)cGt>cAt	p.R81H	NT5C1B_ENST00000600945.1_Missense_Mutation_p.R81H|NT5C1B-RDH14_ENST00000532967.1_Missense_Mutation_p.R81H|NT5C1B_ENST00000304081.4_Intron|NT5C1B_ENST00000460052.1_Intron	NM_001002006.2|NM_001199086.1|NM_001199087.1|NM_001199088.1	NP_001002006.1|NP_001186015.1|NP_001186016.1|NP_001186017.1			5'-nucleotidase, cytosolic IB											endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)	Ovarian(717;0.208)				AATATAAATACGTATTGTGTG	0.547													16	39					0	0	1	0	0	T	18768318	C	T	18768318	3	4	398	1	0	0	0	0	1	0	0	0	10734	536	19	1	1622	1	NT5C1B	2	18768318	Missense_Mutation	SNP	C	TCGA-R8-A6ML-01A-11D-A32B-08		18768318	224431055	4	33366											
SGOL2	151246	broad.mit.edu	37	2	201437641	201437641	+	Missense_Mutation	SNP	G	G	T			TCGA-R8-A6ML-01A-11D-A32B-08	TCGA-R8-A6ML-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f17b0f-b277-44e0-9f28-7accd81f67bd	7af368c2-d9c9-4ca5-a5ac-9d0712d8b9c4	g.chr2:201437641G>T	ENST00000357799.4	+	7	2670	c.2572G>T	c.(2572-2574)Gtc>Ttc	p.V858F		NM_001160033.1|NM_001160046.1|NM_152524.5	NP_001153505.1|NP_001153518.1|NP_689737.4	Q562F6	SGOL2_HUMAN	shugoshin-like 2 (S. pombe)	858					cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol|mitotic cohesin complex	protein binding			NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						AAATCTACAAGTCACAAATGA	0.299													46	64					2.00842e-17	2.14693e-17	1	1	0	T	201437641	G	T	201437641	3	4	398	1	0	0	0	0	1	0	0	0	14271	1029	36	4	2594	4	SGOL2	2	201437641	Missense_Mutation	SNP	G	TCGA-R8-A6ML-01A-11D-A32B-08	182669323	201437641	41761732	5	33367											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-R8-A6ML-01A-11D-A32B-08	TCGA-R8-A6ML-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f17b0f-b277-44e0-9f28-7accd81f67bd	7af368c2-d9c9-4ca5-a5ac-9d0712d8b9c4	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								30	40					0	0	1	0	0	T	209113112	C	T	209113112	3	4	398	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-R8-A6ML-01A-11D-A32B-08	7675471	209113112	34086261	6	33368											
SEMA3G	56920	broad.mit.edu	37	3	52474396	52474396	+	Silent	SNP	G	G	A			TCGA-R8-A6ML-01A-11D-A32B-08	TCGA-R8-A6ML-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f17b0f-b277-44e0-9f28-7accd81f67bd	7af368c2-d9c9-4ca5-a5ac-9d0712d8b9c4	g.chr3:52474396G>A	ENST00000231721.2	-	10	1139	c.1140C>T	c.(1138-1140)ggC>ggT	p.G380G		NM_020163.1	NP_064548.1	Q9NS98	SEM3G_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3G	380	Sema.				multicellular organismal development	extracellular region|membrane	receptor activity			kidney(1)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)	18				BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00173)|KIRC - Kidney renal clear cell carcinoma(197;0.00196)|OV - Ovarian serous cystadenocarcinoma(275;0.0333)		TACTCACCACGCCAGGGCGAG	0.662													16	14					0	0	1	0	0	A	52474396	G	A	52474396	2	1	398	1	0	0	0	0	0	0	0	1	14084	1074	38	1		1	SEMA3G	3	52474396	Silent	SNP	G	TCGA-R8-A6ML-01A-11D-A32B-08		52474396	145548034	7	33369											
WDR52	55779	broad.mit.edu	37	3	113138965	113138965	+	Missense_Mutation	SNP	C	C	T			TCGA-R8-A6ML-01A-11D-A32B-08	TCGA-R8-A6ML-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f17b0f-b277-44e0-9f28-7accd81f67bd	7af368c2-d9c9-4ca5-a5ac-9d0712d8b9c4	g.chr3:113138965C>T	ENST00000393845.2	-	5	535	c.469G>A	c.(469-471)Gcc>Acc	p.A157T	WDR52_ENST00000295868.2_Missense_Mutation_p.A157T|WDR52-AS1_ENST00000498480.1_RNA|WDR52-AS1_ENST00000473329.1_RNA	NM_001164496.1	NP_001157968.1	Q96MT7	WDR52_HUMAN	WD repeat domain 52	157								p.A157T(2)		breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2)	49						ATGTATATGGCGATACTGTCG	0.428													13	23					0	0	1	0	0	T	113138965	C	T	113138965	3	4	398	1	0	0	0	0	1	0	0	0	17364	768	27	1	5234	1	WDR52	3	113138965	Missense_Mutation	SNP	C	TCGA-R8-A6ML-01A-11D-A32B-08	60664569	113138965	84883465	8	33370											
SLIT2	9353	broad.mit.edu	37	4	20569157	20569157	+	Missense_Mutation	SNP	T	T	C			TCGA-R8-A6ML-01A-11D-A32B-08	TCGA-R8-A6ML-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f17b0f-b277-44e0-9f28-7accd81f67bd	7af368c2-d9c9-4ca5-a5ac-9d0712d8b9c4	g.chr4:20569157T>C	ENST00000504154.1	+	28	3119	c.2867T>C	c.(2866-2868)gTc>gCc	p.V956A	SLIT2_ENST00000503823.1_Missense_Mutation_p.V948A|SLIT2_ENST00000273739.5_Missense_Mutation_p.V960A|SLIT2_ENST00000503837.1_Missense_Mutation_p.V952A	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	956					apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						GACTGTGATGTCCCAATTCAT	0.443													30	41					0	0	1	0	0	C	20569157	T	C	20569157	3	2	398	1	0	0	0	0	1	0	0	0	14794	1667	58	3	2977	3	SLIT2	4	20569157	Missense_Mutation	SNP	T	TCGA-R8-A6ML-01A-11D-A32B-08		20569157	170585119	9	33371											
NIPBL	25836	broad.mit.edu	37	5	36953806	36953816	+	Frame_Shift_Del	DEL	GGGATATGCCC	GGGATATGCCC	-			TCGA-R8-A6ML-01A-11D-A32B-08	TCGA-R8-A6ML-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f17b0f-b277-44e0-9f28-7accd81f67bd	7af368c2-d9c9-4ca5-a5ac-9d0712d8b9c4	g.chr5:36953806_36953816delGGGATATGCCC	ENST00000282516.8	+	2	507_517	c.8_18delGGGATATGCCC	c.(7-18)ggggatatgcccfs	p.GDMP3fs	NIPBL_ENST00000448238.2_Frame_Shift_Del_p.GDMP3fs	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	3					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			AGGATGAATGGGGATATGCCCCATGTCCCCA	0.398													9	119	---	---	---	---						-	36953816	GGGATATGCCC	-	36953806	7	5	398	1	0	1	0	1	0	0	0	0	10475	1232	43	0	10	0	NIPBL	5	36953806	Frame_Shift_Del	DEL	GGGATATGCCC	TCGA-R8-A6ML-01A-11D-A32B-08		36953806	143961454	10	33372											
F12	2161	broad.mit.edu	37	5	176833045	176833045	+	Missense_Mutation	SNP	C	C	T			TCGA-R8-A6ML-01A-11D-A32B-08	TCGA-R8-A6ML-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f17b0f-b277-44e0-9f28-7accd81f67bd	7af368c2-d9c9-4ca5-a5ac-9d0712d8b9c4	g.chr5:176833045C>T	ENST00000253496.3	-	3	181	c.133G>A	c.(133-135)Gag>Aag	p.E45K		NM_000505.3	NP_000496.2	P00748	FA12_HUMAN	coagulation factor XII (Hageman factor)	45	Fibronectin type-II.				Factor XII activation|fibrinolysis|innate immune response|positive regulation of blood coagulation|positive regulation of fibrinolysis|positive regulation of plasminogen activation|protein autoprocessing|response to misfolded protein|zymogen activation	extracellular space|plasma membrane	serine-type endopeptidase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	12	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGGCAGGGCTCCCCGGTGACA	0.597									Hereditary Angioedema				9	137					0	0	1	0	0	T	176833045	C	T	176833045	3	4	398	1	0	0	0	0	1	0	0	0	5367	864	30	2	1762	2	F12	5	176833045	Missense_Mutation	SNP	C	TCGA-R8-A6ML-01A-11D-A32B-08	139879239	176833045	4082215	11	33373											
NHLRC1	378884	broad.mit.edu	37	6	18121764	18121764	+	Missense_Mutation	SNP	C	C	T			TCGA-R8-A6ML-01A-11D-A32B-08	TCGA-R8-A6ML-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f17b0f-b277-44e0-9f28-7accd81f67bd	7af368c2-d9c9-4ca5-a5ac-9d0712d8b9c4	g.chr6:18121764C>T	ENST00000340650.3	-	1	1087	c.1074G>A	c.(1072-1074)atG>atA	p.M358I		NM_198586.2	NP_940988.2	Q6VVB1	NHLC1_HUMAN	NHL repeat containing 1	358					proteasomal ubiquitin-dependent protein catabolic process|protein polyubiquitination	endoplasmic reticulum|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|kidney(1)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(2)	11	Ovarian(93;0.016)|Breast(50;0.0245)	all_hematologic(90;0.165)	all cancers(50;0.0451)|Epithelial(50;0.0493)			CATGAGTGACCATGGGCTTCG	0.448													40	59					0	0	1	0	0	T	18121764	C	T	18121764	3	4	398	1	0	0	0	0	1	0	0	0	10452	594	21	2	117	2	NHLRC1	6	18121764	Missense_Mutation	SNP	C	TCGA-R8-A6ML-01A-11D-A32B-08		18121764	152993303	12	33374											
SOX4	6659	broad.mit.edu	37	6	21594926	21594926	+	Frame_Shift_Del	DEL	C	C	-			TCGA-R8-A6ML-01A-11D-A32B-08	TCGA-R8-A6ML-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f17b0f-b277-44e0-9f28-7accd81f67bd	7af368c2-d9c9-4ca5-a5ac-9d0712d8b9c4	g.chr6:21594926delC	ENST00000244745.1	+	1	955	c.161delC	c.(160-162)accfs	p.T54fs	SOX4_ENST00000543472.1_Frame_Shift_Del_p.T54fs	NM_003107.2	NP_003098.1	Q06945	SOX4_HUMAN	SRY (sex determining region Y)-box 4	54					canonical Wnt receptor signaling pathway|cardiac ventricle formation|cellular response to glucose stimulus|DNA damage response, detection of DNA damage|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|glial cell development|glial cell proliferation|limb bud formation|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of protein export from nucleus|negative regulation of protein ubiquitination|neural tube formation|neuroepithelial cell differentiation|noradrenergic neuron differentiation|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|positive regulation of insulin secretion|positive regulation of N-terminal peptidyl-lysine acetylation|positive regulation of translation|pro-B cell differentiation|protein stabilization|skeletal system development|spinal cord motor neuron differentiation|sympathetic nervous system development|T cell differentiation	mitochondrion|nucleus	core promoter sequence-specific DNA binding|protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|RNA polymerase II transcription coactivator activity			kidney(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	6	Ovarian(93;0.163)		all cancers(50;0.0751)|Epithelial(50;0.155)			TGGTGCAAGACCCCGAGTGGG	0.687													8	4	---	---	---	---						-	21594926	C	-	21594926	7	5	398	1	0	1	0	1	0	0	0	0	15007	507	18	0	163	0	SOX4	6	21594926	Frame_Shift_Del	DEL	C	TCGA-R8-A6ML-01A-11D-A32B-08	3473162	21594926	149520141	13	33375											
WDR27	253769	broad.mit.edu	37	6	170013708	170013708	+	Silent	SNP	G	G	A			TCGA-R8-A6ML-01A-11D-A32B-08	TCGA-R8-A6ML-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f17b0f-b277-44e0-9f28-7accd81f67bd	7af368c2-d9c9-4ca5-a5ac-9d0712d8b9c4	g.chr6:170013708G>A	ENST00000333572.6	-	22	2787	c.2268C>T	c.(2266-2268)ttC>ttT	p.F756F	WDR27_ENST00000546525.1_5'UTR|WDR27_ENST00000448612.1_Silent_p.F756F|WDR27_ENST00000423258.1_Silent_p.F629F			A2RRH5	WDR27_HUMAN	WD repeat domain 27	726										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1)	12		Breast(66;1.53e-05)|Ovarian(120;0.216)		OV - Ovarian serous cystadenocarcinoma(33;6.48e-20)|BRCA - Breast invasive adenocarcinoma(81;3.56e-07)|GBM - Glioblastoma multiforme(31;0.00168)		CCGTGGTCAGGAAAAGGTTAT	0.498													17	20					0	0	1	0	0	A	170013708	G	A	170013708	2	1	398	1	0	0	0	0	0	0	0	1	17344	1165	41	2		2	WDR27	6	170013708	Silent	SNP	G	TCGA-R8-A6ML-01A-11D-A32B-08	148418782	170013708	1101359	14	33376											
RBM28	55131	broad.mit.edu	37	7	127970947	127970947	+	Missense_Mutation	SNP	C	C	T			TCGA-R8-A6ML-01A-11D-A32B-08	TCGA-R8-A6ML-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f17b0f-b277-44e0-9f28-7accd81f67bd	7af368c2-d9c9-4ca5-a5ac-9d0712d8b9c4	g.chr7:127970947C>T	ENST00000223073.2	-	10	1168	c.1054G>A	c.(1054-1056)Ggg>Agg	p.G352R	RBM28_ENST00000415472.2_Missense_Mutation_p.G211R	NM_018077.2	NP_060547.2	Q9NW13	RBM28_HUMAN	RNA binding motif protein 28		RRM 3.				mRNA processing|RNA splicing	Golgi apparatus|nucleolus|spliceosomal complex	nucleotide binding|RNA binding	p.G352L(1)		breast(1)|kidney(7)|large_intestine(3)|lung(8)|ovary(2)	21						AGAAGCTCCCCAAGTTCTTCT	0.428													26	47					0	0	1	0	0	T	127970947	C	T	127970947	3	4	398	1	0	0	0	0	1	0	0	0	13180	594	21	2	1265	2	RBM28	7	127970947	Missense_Mutation	SNP	C	TCGA-R8-A6ML-01A-11D-A32B-08		127970947	31167716	15	33377											
NOTCH1	4851	broad.mit.edu	37	9	139413213	139413213	+	Missense_Mutation	SNP	C	C	T			TCGA-R8-A6ML-01A-11D-A32B-08	TCGA-R8-A6ML-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f17b0f-b277-44e0-9f28-7accd81f67bd	7af368c2-d9c9-4ca5-a5ac-9d0712d8b9c4	g.chr9:139413213C>T	ENST00000277541.6	-	6	1004	c.929G>A	c.(928-930)gGg>gAg	p.G310E		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	310	EGF-like 8; calcium-binding (Potential).				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GTGGCAGGTCCCGCCGTTCTG	0.627			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			6	55					0	0	1	0	0	T	139413213	C	T	139413213	3	4	398	1	0	0	0	0	1	0	0	0	10594	623	22	2	6854	2	NOTCH1	9	139413213	Missense_Mutation	SNP	C	TCGA-R8-A6ML-01A-11D-A32B-08		139413213	1800218	16	33378											
MPZL2	10205	broad.mit.edu	37	11	118133774	118133774	+	Silent	SNP	G	G	T			TCGA-R8-A6ML-01A-11D-A32B-08	TCGA-R8-A6ML-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f17b0f-b277-44e0-9f28-7accd81f67bd	7af368c2-d9c9-4ca5-a5ac-9d0712d8b9c4	g.chr11:118133774G>T	ENST00000278937.2	-	2	225	c.97C>A	c.(97-99)Cgg>Agg	p.R33R	MPZL2_ENST00000438295.2_Silent_p.R33R|MPZL2_ENST00000525647.1_5'UTR	NM_005797.3	NP_005788.1	O60487	MPZL2_HUMAN	myelin protein zero-like 2	33	Ig-like V-type.				anatomical structure morphogenesis|homophilic cell adhesion	cytoskeleton|integral to membrane				endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|skin(1)	11	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.04e-05)		TCCAGCACCCGGGAGGTATAA	0.463													14	272					1.35283e-19	1.49777e-19	1	1	0	T	118133774	G	T	118133774	2	4	398	1	0	0	0	0	0	0	0	1	9799	1115	39	5		5	MPZL2	11	118133774	Silent	SNP	G	TCGA-R8-A6ML-01A-11D-A32B-08		118133774	16872742	17	33379											
MEGF11	84465	broad.mit.edu	37	15	66206129	66206129	+	Missense_Mutation	SNP	G	G	A			TCGA-R8-A6ML-01A-11D-A32B-08	TCGA-R8-A6ML-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f17b0f-b277-44e0-9f28-7accd81f67bd	7af368c2-d9c9-4ca5-a5ac-9d0712d8b9c4	g.chr15:66206129G>A	ENST00000409699.2	-	20	2828	c.2656C>T	c.(2656-2658)Cgt>Tgt	p.R886C	MEGF11_ENST00000422354.1_Missense_Mutation_p.R886C|MEGF11_ENST00000395625.2_Missense_Mutation_p.R811C|MEGF11_ENST00000478721.1_5'UTR|MEGF11_ENST00000360698.4_3'UTR|MEGF11_ENST00000288745.3_Missense_Mutation_p.R811C|MEGF11_ENST00000395614.1_Missense_Mutation_p.R59C			A6BM72	MEG11_HUMAN	multiple EGF-like-domains 11	886						basolateral plasma membrane|integral to membrane				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	19						TAGGAGACACGGGGAGCCAGG	0.602													8	21					0	0	1	0	0	A	66206129	G	A	66206129	3	1	398	1	0	0	0	0	1	0	0	0	9511	1116	39	1	494	1	MEGF11	15	66206129	Missense_Mutation	SNP	G	TCGA-R8-A6ML-01A-11D-A32B-08		66206129	36325263	18	33380											
CRYBA1	1411	broad.mit.edu	37	17	27580753	27580753	+	Missense_Mutation	SNP	G	G	A			TCGA-R8-A6ML-01A-11D-A32B-08	TCGA-R8-A6ML-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f17b0f-b277-44e0-9f28-7accd81f67bd	7af368c2-d9c9-4ca5-a5ac-9d0712d8b9c4	g.chr17:27580753G>A	ENST00000225387.3	+	5	454	c.453G>A	c.(451-453)atG>atA	p.M151I		NM_005208.4	NP_005199.2	P05813	CRBA1_HUMAN	crystallin, beta A1	151	Beta/gamma crystallin 'Greek key' 3.				visual perception	soluble fraction	structural constituent of eye lens			breast(1)|large_intestine(2)|lung(1)|prostate(1)	5			BRCA - Breast invasive adenocarcinoma(11;3.3e-05)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551)			TGCAAGCCATGGGCTGGTTCA	0.453													20	41					0	0	1	0	0	A	27580753	G	A	27580753	3	1	398	1	0	0	0	0	1	0	0	0	3930	1348	47	2	471	2	CRYBA1	17	27580753	Missense_Mutation	SNP	G	TCGA-R8-A6ML-01A-11D-A32B-08		27580753	53614457	19	33381											
KRT25	147183	broad.mit.edu	37	17	38906799	38906799	+	Silent	SNP	C	C	T			TCGA-R8-A6ML-01A-11D-A32B-08	TCGA-R8-A6ML-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f17b0f-b277-44e0-9f28-7accd81f67bd	7af368c2-d9c9-4ca5-a5ac-9d0712d8b9c4	g.chr17:38906799C>T	ENST00000312150.4	-	6	1068	c.1008G>A	c.(1006-1008)gcG>gcA	p.A336A		NM_181534.3	NP_853512.1	Q7Z3Z0	K1C25_HUMAN	keratin 25	336	Coil 2.|Rod.					cytoplasm|intermediate filament	structural molecule activity			endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4)	16		Breast(137;0.00526)				GCGCCAGCTGCGCACAGTAGT	0.562													115	181					0	0	1	0	0	T	38906799	C	T	38906799	2	4	398	1	0	0	0	0	0	0	0	1	8505	755	27	1		1	KRT25	17	38906799	Silent	SNP	C	TCGA-R8-A6ML-01A-11D-A32B-08	11326046	38906799	42288411	20	33382											
CIC	23152	broad.mit.edu	37	19	42795743	42795744	+	Frame_Shift_Ins	INS	-	-	G			TCGA-R8-A6ML-01A-11D-A32B-08	TCGA-R8-A6ML-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f17b0f-b277-44e0-9f28-7accd81f67bd	7af368c2-d9c9-4ca5-a5ac-9d0712d8b9c4	g.chr19:42795743_42795744insG	ENST00000572681.2	+	12	5527_5528	c.5459_5460insG	c.(5458-5463)ccgggtfs	p.PG1820fs	CIC_ENST00000160740.3_Frame_Shift_Ins_p.PG911fs|CIC_ENST00000575354.2_Frame_Shift_Ins_p.PG911fs			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	911					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	p.P911P(1)		autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				GCCCCGCCCCCGGGTGGCTCAG	0.649			"Mis, F, S"		oligodendroglioma								128	74	---	---	---	---						G	42795744	-	G	42795743	7	5	398	1	0	1	1	0	0	0	0	0	3446	652	23	0	2774	0	CIC	19	42795743	Frame_Shift_Ins	INS	-	TCGA-R8-A6ML-01A-11D-A32B-08		42795743	16333240	21	33383											
TMPRSS15	5651	broad.mit.edu	37	21	19732164	19732164	+	Missense_Mutation	SNP	A	A	G			TCGA-R8-A6ML-01A-11D-A32B-08	TCGA-R8-A6ML-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f17b0f-b277-44e0-9f28-7accd81f67bd	7af368c2-d9c9-4ca5-a5ac-9d0712d8b9c4	g.chr21:19732164A>G	ENST00000284885.3	-	8	823	c.790T>C	c.(790-792)Tcc>Ccc	p.S264P		NM_002772.2	NP_002763	P98073	ENTK_HUMAN	transmembrane protease, serine 15	264	CUB 1.				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						AGTTTAATGGAAAGTCCTTGG	0.264													20	32					0	0	1	0	0	G	19732164	A	G	19732164	3	3	398	1	0	0	0	0	1	0	0	0	16306	246	9	3	2341	3	TMPRSS15	21	19732164	Missense_Mutation	SNP	A	TCGA-R8-A6ML-01A-11D-A32B-08		19732164	28397731	22	33384											
APOL3	80833	broad.mit.edu	37	22	36537327	36537327	+	Missense_Mutation	SNP	C	C	G	rs145559179	byFrequency	TCGA-R8-A6ML-01A-11D-A32B-08	TCGA-R8-A6ML-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f17b0f-b277-44e0-9f28-7accd81f67bd	7af368c2-d9c9-4ca5-a5ac-9d0712d8b9c4	g.chr22:36537327C>G	ENST00000424878.2	-	4	2678	c.530G>C	c.(529-531)cGg>cCg	p.R177P	APOL3_ENST00000397287.2_Missense_Mutation_p.R177P|APOL3_ENST00000361710.2_Missense_Mutation_p.R177P|APOL3_ENST00000397293.2_Missense_Mutation_p.R306P|APOL3_ENST00000349314.2_Missense_Mutation_p.R377P			O95236	APOL3_HUMAN	apolipoprotein L, 3	377					inflammatory response|lipoprotein metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|extracellular region	lipid binding|lipid transporter activity|signal transducer activity			endometrium(2)|large_intestine(1)|lung(1)|stomach(1)	5						CTGAGCCTGCCGCCTCAGCTC	0.542													51	75					0	0	1	0	0	G	36537327	C	G	36537327	3	3	398	1	0	0	0	0	1	0	0	0	804	652	23	5	82	5	APOL3	22	36537327	Missense_Mutation	SNP	C	TCGA-R8-A6ML-01A-11D-A32B-08		36537327	14767239	23	33385											
SMC1A	8243	broad.mit.edu	37	X	53432432	53432432	+	Missense_Mutation	SNP	C	C	A			TCGA-R8-A6ML-01A-11D-A32B-08	TCGA-R8-A6ML-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f17b0f-b277-44e0-9f28-7accd81f67bd	7af368c2-d9c9-4ca5-a5ac-9d0712d8b9c4	g.chrX:53432432C>A	ENST00000322213.4	-	11	2031	c.1904G>T	c.(1903-1905)cGc>cTc	p.R635L	SMC1A_ENST00000375340.6_Missense_Mutation_p.R401L	NM_006306.2	NP_006297.2	Q14683	SMC1A_HUMAN	structural maintenance of chromosomes 1A	635	Flexible hinge.				cell cycle checkpoint|cell division|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic sister chromatid cohesion|mitotic spindle organization|negative regulation of DNA endoreduplication|nuclear mRNA splicing, via spliceosome|response to radiation|signal transduction in response to DNA damage	cohesin core heterodimer|condensed chromosome kinetochore|condensed nuclear chromosome|cytoplasm|meiotic cohesin complex|nucleoplasm	ATP binding|chromatin binding|microtubule motor activity|protein heterodimerization activity			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(8)|ovary(5)|upper_aerodigestive_tract(2)	49						CACCTTGTGGCGCTGGTGGCC	0.562													20	8					8.10497e-08	8.37514e-08	1	1	0	A	53432432	C	A	53432432	3	1	398	1	0	0	0	0	1	0	0	0	14835	768	27	5	1857	5	SMC1A	23	53432432	Missense_Mutation	SNP	C	TCGA-R8-A6ML-01A-11D-A32B-08		53432432	101838128	24	33386											
CSF3R	1441	broad.mit.edu	37	1	36932096	36932096	+	Nonsense_Mutation	SNP	C	C	T			TCGA-R8-A6MO-01A-11D-A33T-08	TCGA-R8-A6MO-10C-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b826e5b4-3335-4b3c-a545-dd13a17acb2b	17ee5ee3-a2a0-4756-84ce-f1190b597115	g.chr1:36932096C>T	ENST00000373103.1	-	17	3001	c.2454G>A	c.(2452-2454)tgG>tgA	p.W818*	CSF3R_ENST00000373104.1_Intron|CSF3R_ENST00000418048.2_Nonsense_Mutation_p.W791*|CSF3R_ENST00000373106.1_Nonsense_Mutation_p.W791*|CSF3R_ENST00000338937.5_Missense_Mutation_p.G760D|CSF3R_ENST00000487540.2_5'UTR|CSF3R_ENST00000331941.5_Intron|CSF3R_ENST00000361632.4_Nonsense_Mutation_p.W791*|CSF3R_ENST00000440588.2_Nonsense_Mutation_p.W818*	NM_156039.3	NP_724781.1	Q99062	CSF3R_HUMAN	colony stimulating factor 3 receptor (granulocyte)	791					cell adhesion|defense response	extracellular region|integral to plasma membrane	cytokine receptor activity			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)			Filgrastim(DB00099)|Pegfilgrastim(DB00019)	TGGCCTGGAACCAGAGGTTCT	0.657													4	23					0	0	1	0	0	T	36932096	C	T	36932096	4	4	399	1	0	0	0	0	0	1	0	0	3962	508	18	2	250	2	CSF3R	1	36932096	Nonsense_Mutation	SNP	C	TCGA-R8-A6MO-01A-11D-A33T-08		36932096	212318525	1	33387											
SETDB1	9869	broad.mit.edu	37	1	150916431	150916431	+	Missense_Mutation	SNP	A	A	G			TCGA-R8-A6MO-01A-11D-A33T-08	TCGA-R8-A6MO-10C-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b826e5b4-3335-4b3c-a545-dd13a17acb2b	17ee5ee3-a2a0-4756-84ce-f1190b597115	g.chr1:150916431A>G	ENST00000271640.5	+	8	1101	c.911A>G	c.(910-912)tAt>tGt	p.Y304C	SETDB1_ENST00000368962.2_Missense_Mutation_p.Y304C|SETDB1_ENST00000368963.1_Missense_Mutation_p.M237V|SETDB1_ENST00000459773.1_Intron|SETDB1_ENST00000368969.4_Missense_Mutation_p.Y304C	NM_001145415.1|NM_012432.3	NP_001138887.1|NP_036564.3	Q15047	SETB1_HUMAN	SET domain, bifurcated 1	304	Tudor 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|Golgi apparatus|nucleus|plasma membrane	DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding	p.Y304C(1)		NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)			TATGCTTCCTATGTCACACAG	0.408													68	128					0	0	1	0	0	G	150916431	A	G	150916431	3	3	399	1	0	0	0	0	1	0	0	0	14192	449	16	3	937	3	SETDB1	1	150916431	Missense_Mutation	SNP	A	TCGA-R8-A6MO-01A-11D-A33T-08	113984335	150916431	98334190	2	33388											
SH2D2A	9047	broad.mit.edu	37	1	156784873	156784873	+	Silent	SNP	C	C	T			TCGA-R8-A6MO-01A-11D-A33T-08	TCGA-R8-A6MO-10C-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b826e5b4-3335-4b3c-a545-dd13a17acb2b	17ee5ee3-a2a0-4756-84ce-f1190b597115	g.chr1:156784873C>T	ENST00000392306.2	-	3	403	c.264G>A	c.(262-264)caG>caA	p.Q88Q	SH2D2A_ENST00000495306.1_5'UTR|SH2D2A_ENST00000368199.3_Silent_p.Q88Q|SH2D2A_ENST00000368198.3_Silent_p.Q70Q	NM_001161441.1	NP_001154913.1	Q9NP31	SH22A_HUMAN	SH2 domain containing 2A	88					angiogenesis|cell differentiation|signal transduction	cytoplasm|soluble fraction	SH3 domain binding|SH3/SH2 adaptor activity			endometrium(1)|large_intestine(2)|lung(15)	18	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CTGCCCCGTGCTGCAGGAGCC	0.642													3	39					0	0	1	0	0	T	156784873	C	T	156784873	2	4	399	1	0	0	0	0	0	0	0	1	14286	796	28	2		2	SH2D2A	1	156784873	Silent	SNP	C	TCGA-R8-A6MO-01A-11D-A33T-08	5868442	156784873	92465748	3	33389											
PRELP	5549	broad.mit.edu	37	1	203452722	203452722	+	Missense_Mutation	SNP	G	G	A			TCGA-R8-A6MO-01A-11D-A33T-08	TCGA-R8-A6MO-10C-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b826e5b4-3335-4b3c-a545-dd13a17acb2b	17ee5ee3-a2a0-4756-84ce-f1190b597115	g.chr1:203452722G>A	ENST00000343110.2	+	2	537	c.410G>A	c.(409-411)cGa>cAa	p.R137Q		NM_002725.3|NM_201348.1	NP_002716.1|NP_958505.1	P51888	PRELP_HUMAN	proline/arginine-rich end leucine-rich repeat protein	137					skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			BRCA - Breast invasive adenocarcinoma(75;0.109)			GACAACAACCGAATCCGCAAG	0.552													4	174					0	0	1	0	0	A	203452722	G	A	203452722	3	1	399	1	0	0	0	0	1	0	0	0	12525	1058	37	1	412	1	PRELP	1	203452722	Missense_Mutation	SNP	G	TCGA-R8-A6MO-01A-11D-A33T-08	46667849	203452722	45797899	4	33390											
RYR2	6262	broad.mit.edu	37	1	237791209	237791209	+	Missense_Mutation	SNP	G	G	A			TCGA-R8-A6MO-01A-11D-A33T-08	TCGA-R8-A6MO-10C-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b826e5b4-3335-4b3c-a545-dd13a17acb2b	17ee5ee3-a2a0-4756-84ce-f1190b597115	g.chr1:237791209G>A	ENST00000366574.2	+	41	6586	c.6269G>A	c.(6268-6270)cGg>cAg	p.R2090Q	RYR2_ENST00000360064.6_Missense_Mutation_p.R2088Q|RYR2_ENST00000542537.1_Missense_Mutation_p.R2074Q	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2090	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.R2088Q(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TTGCTCCATCGGCAGTATGAC	0.557													9	64					0	0	1	0	0	A	237791209	G	A	237791209	3	1	399	1	0	0	0	0	1	0	0	0	13821	1116	39	1	6431	1	RYR2	1	237791209	Missense_Mutation	SNP	G	TCGA-R8-A6MO-01A-11D-A33T-08	34338487	237791209	11459412	5	33391											
NLRC4	58484	broad.mit.edu	37	2	32476399	32476399	+	Silent	SNP	C	C	A			TCGA-R8-A6MO-01A-11D-A33T-08	TCGA-R8-A6MO-10C-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b826e5b4-3335-4b3c-a545-dd13a17acb2b	17ee5ee3-a2a0-4756-84ce-f1190b597115	g.chr2:32476399C>A	ENST00000404025.2	-	5	1022	c.534G>T	c.(532-534)ctG>ctT	p.L178L	NLRC4_ENST00000360906.5_Silent_p.L178L|NLRC4_ENST00000402280.1_Silent_p.L178L|NLRC4_ENST00000342905.6_Intron			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	178	NACHT.				activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					TTCGCTGCAGCAGAGTGGACT	0.582													5	126					5.18039e-06	5.55042e-06	1	1	0	A	32476399	C	A	32476399	2	1	399	1	0	0	0	0	0	0	0	1	10516	697	25	5		5	NLRC4	2	32476399	Silent	SNP	C	TCGA-R8-A6MO-01A-11D-A33T-08		32476399	210722974	6	33392											
GLI2	2736	broad.mit.edu	37	2	121712960	121712960	+	Silent	SNP	C	C	A	rs149502176		TCGA-R8-A6MO-01A-11D-A33T-08	TCGA-R8-A6MO-10C-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b826e5b4-3335-4b3c-a545-dd13a17acb2b	17ee5ee3-a2a0-4756-84ce-f1190b597115	g.chr2:121712960C>A	ENST00000452319.1	+	5	657	c.597C>A	c.(595-597)ggC>ggA	p.G199G	GLI2_ENST00000435313.2_3'UTR|GLI2_ENST00000314490.11_5'UTR|GLI2_ENST00000361492.4_Silent_p.G199G			P10070	GLI2_HUMAN	GLI family zinc finger 2	199					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				AGAGCGGGGGCGCTGCCAGCG	0.667													17	33					3.41278e-10	3.7641e-10	1	1	0	A	121712960	C	A	121712960	2	1	399	1	0	0	0	0	0	0	0	1	6480	755	27	5		5	GLI2	2	121712960	Silent	SNP	C	TCGA-R8-A6MO-01A-11D-A33T-08	89236561	121712960	121486413	7	33393											
ITGB6	3694	broad.mit.edu	37	2	161052897	161052897	+	Missense_Mutation	SNP	C	C	T			TCGA-R8-A6MO-01A-11D-A33T-08	TCGA-R8-A6MO-10C-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b826e5b4-3335-4b3c-a545-dd13a17acb2b	17ee5ee3-a2a0-4756-84ce-f1190b597115	g.chr2:161052897C>T	ENST00000283249.2	-	3	413	c.176G>A	c.(175-177)tGt>tAt	p.C59Y	ITGB6_ENST00000409872.1_Missense_Mutation_p.C59Y|ITGB6_ENST00000485635.1_5'UTR|ITGB6_ENST00000409967.2_Missense_Mutation_p.C59Y|ITGB6_ENST00000428609.2_Missense_Mutation_p.C17Y	NM_001282353.1|NM_001282354.1|NM_001282388.1	NP_001269282.1|NP_001269283.1|NP_001269317.1	P18564	ITB6_HUMAN	integrin, beta 6	59					cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|multicellular organismal development	integrin complex	receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						TGGGGTATCACACCTTTCGCC	0.328													106	223					0	0	1	0	0	T	161052897	C	T	161052897	3	4	399	1	0	0	0	0	1	0	0	0	7943	478	17	2	2242	2	ITGB6	2	161052897	Missense_Mutation	SNP	C	TCGA-R8-A6MO-01A-11D-A33T-08	39339937	161052897	82146476	8	33394											
LRP2	4036	broad.mit.edu	37	2	170093674	170093674	+	Missense_Mutation	SNP	T	T	C			TCGA-R8-A6MO-01A-11D-A33T-08	TCGA-R8-A6MO-10C-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b826e5b4-3335-4b3c-a545-dd13a17acb2b	17ee5ee3-a2a0-4756-84ce-f1190b597115	g.chr2:170093674T>C	ENST00000263816.3	-	28	4915	c.4630A>G	c.(4630-4632)Act>Gct	p.T1544A		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	1544					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	ATCAGCACAGTCCTGTGGCTC	0.378													95	156					0	0	1	0	0	C	170093674	T	C	170093674	3	2	399	1	0	0	0	0	1	0	0	0	9001	1667	58	3	9545	3	LRP2	2	170093674	Missense_Mutation	SNP	T	TCGA-R8-A6MO-01A-11D-A33T-08	9040777	170093674	73105699	9	33395											
NBEAL1	65065	broad.mit.edu	37	2	204066361	204066361	+	Missense_Mutation	SNP	C	C	T			TCGA-R8-A6MO-01A-11D-A33T-08	TCGA-R8-A6MO-10C-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b826e5b4-3335-4b3c-a545-dd13a17acb2b	17ee5ee3-a2a0-4756-84ce-f1190b597115	g.chr2:204066361C>T	ENST00000449802.1	+	49	7580	c.7247C>T	c.(7246-7248)gCt>gTt	p.A2416V		NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1	2416							binding			NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						CTCTTCAGTGCTGGATACTGG	0.398													4	213					0	0	1	0	0	T	204066361	C	T	204066361	3	4	399	1	0	0	0	0	1	0	0	0	10236	797	28	2	7437	2	NBEAL1	2	204066361	Missense_Mutation	SNP	C	TCGA-R8-A6MO-01A-11D-A33T-08	33972687	204066361	39133012	10	33396											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-R8-A6MO-01A-11D-A33T-08	TCGA-R8-A6MO-10C-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b826e5b4-3335-4b3c-a545-dd13a17acb2b	17ee5ee3-a2a0-4756-84ce-f1190b597115	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								55	130					0	0	1	0	0	T	209113112	C	T	209113112	3	4	399	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-R8-A6MO-01A-11D-A33T-08	5046751	209113112	34086261	11	33397											
TRAIP	10293	broad.mit.edu	37	3	49881320	49881320	+	Missense_Mutation	SNP	G	G	A			TCGA-R8-A6MO-01A-11D-A33T-08	TCGA-R8-A6MO-10C-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b826e5b4-3335-4b3c-a545-dd13a17acb2b	17ee5ee3-a2a0-4756-84ce-f1190b597115	g.chr3:49881320G>A	ENST00000331456.2	-	5	435	c.322C>T	c.(322-324)Cgg>Tgg	p.R108W	TRAIP_ENST00000469027.1_Intron|TRAIP_ENST00000473863.1_5'UTR	NM_005879.2	NP_005870.2	Q9BWF2	TRAIP_HUMAN	TRAF interacting protein	108					cell proliferation|induction of apoptosis	perinuclear region of cytoplasm	protein binding|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		AGCGTATCCCGCAGAGTGTCG	0.562													5	215					0	0	1	0	0	A	49881320	G	A	49881320	3	1	399	1	0	0	0	0	1	0	0	0	16509	1086	38	1	1131	1	TRAIP	3	49881320	Missense_Mutation	SNP	G	TCGA-R8-A6MO-01A-11D-A33T-08		49881320	148141110	12	33398											
EPHA3	2042	broad.mit.edu	37	3	89457251	89457251	+	Missense_Mutation	SNP	G	G	A			TCGA-R8-A6MO-01A-11D-A33T-08	TCGA-R8-A6MO-10C-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b826e5b4-3335-4b3c-a545-dd13a17acb2b	17ee5ee3-a2a0-4756-84ce-f1190b597115	g.chr3:89457251G>A	ENST00000336596.2	+	9	1957	c.1732G>A	c.(1732-1734)Gaa>Aaa	p.E578K	EPHA3_ENST00000494014.1_Missense_Mutation_p.E578K	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	578						extracellular region|integral to plasma membrane	ATP binding			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		TGGGGCAGATGAAAAAAGACT	0.353										TSP Lung(6;0.00050)			98	164					0	0	1	0	0	A	89457251	G	A	89457251	3	1	399	1	0	0	0	0	1	0	0	0	5196	1291	45	2	1792	2	EPHA3	3	89457251	Missense_Mutation	SNP	G	TCGA-R8-A6MO-01A-11D-A33T-08	39575931	89457251	108565179	13	33399											
ABI3BP	25890	broad.mit.edu	37	3	100527058	100527058	+	Missense_Mutation	SNP	G	G	A			TCGA-R8-A6MO-01A-11D-A33T-08	TCGA-R8-A6MO-10C-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b826e5b4-3335-4b3c-a545-dd13a17acb2b	17ee5ee3-a2a0-4756-84ce-f1190b597115	g.chr3:100527058G>A	ENST00000471714.1	-	50	3759	c.3650C>T	c.(3649-3651)gCt>gTt	p.A1217V	ABI3BP_ENST00000284322.5_Missense_Mutation_p.A540V|ABI3BP_ENST00000383691.4_Missense_Mutation_p.A494V			Q7Z7G0	TARSH_HUMAN	ABI family, member 3 (NESH) binding protein	540						extracellular space				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						CTTAGGAGGAGCACGTGGTGT	0.428													17	32					0	0	1	0	0	A	100527058	G	A	100527058	3	1	399	1	0	0	0	0	1	0	0	0	91	971	34	2	1676	2	ABI3BP	3	100527058	Missense_Mutation	SNP	G	TCGA-R8-A6MO-01A-11D-A33T-08	11069807	100527058	97495372	14	33400											
IGSF10	285313	broad.mit.edu	37	3	151164884	151164884	+	Missense_Mutation	SNP	C	C	T			TCGA-R8-A6MO-01A-11D-A33T-08	TCGA-R8-A6MO-10C-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b826e5b4-3335-4b3c-a545-dd13a17acb2b	17ee5ee3-a2a0-4756-84ce-f1190b597115	g.chr3:151164884C>T	ENST00000282466.3	-	4	2884	c.2885G>A	c.(2884-2886)aGt>aAt	p.S962N		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	962					cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CCTGGGTTCACTCACTTCTCT	0.408													82	173					0	0	1	0	0	T	151164884	C	T	151164884	3	4	399	1	0	0	0	0	1	0	0	0	7641	565	20	2	5046	2	IGSF10	3	151164884	Missense_Mutation	SNP	C	TCGA-R8-A6MO-01A-11D-A33T-08	50637826	151164884	46857546	15	33401											
PIK3CA	5290	broad.mit.edu	37	3	178916876	178916876	+	Missense_Mutation	SNP	G	G	A	rs121913287		TCGA-R8-A6MO-01A-11D-A33T-08	TCGA-R8-A6MO-10C-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b826e5b4-3335-4b3c-a545-dd13a17acb2b	17ee5ee3-a2a0-4756-84ce-f1190b597115	g.chr3:178916876G>A	ENST00000263967.3	+	2	420	c.263G>A	c.(262-264)cGa>cAa	p.R88Q		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	88	PI3K-ABD.		R -> Q (in cancer; may disrupt the interaction between the PI3K-ABD domain and the N-terminal lobe of PI3K/PI4K kinase domain possibly affecting the conformation of the kinase domain).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.R88Q(53)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			GAAACAAGACGACTTTGTGAC	0.363	R88Q(JHUEM1_ENDOMETRIUM)|R88Q(SKUT1_SOFT_TISSUE)|R88Q(SNGM_ENDOMETRIUM)	57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			55	117					0	0	1	0	0	A	178916876	G	A	178916876	3	1	399	1	0	0	0	0	1	0	0	0	11961	1058	37	1	265	1	PIK3CA	3	178916876	Missense_Mutation	SNP	G	TCGA-R8-A6MO-01A-11D-A33T-08	27751992	178916876	19105554	16	33402											
PIK3CA	5290	broad.mit.edu	37	3	178922340	178922340	+	Missense_Mutation	SNP	A	A	G			TCGA-R8-A6MO-01A-11D-A33T-08	TCGA-R8-A6MO-10C-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b826e5b4-3335-4b3c-a545-dd13a17acb2b	17ee5ee3-a2a0-4756-84ce-f1190b597115	g.chr3:178922340A>G	ENST00000263967.3	+	6	1266	c.1109A>G	c.(1108-1110)aAt>aGt	p.N370S		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	370	C2 PI3K-type.				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity			NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TTATGTGACAATGTGAACACT	0.333		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			5	292					0	0	1	0	0	G	178922340	A	G	178922340	3	3	399	1	0	0	0	0	1	0	0	0	11961	101	4	3	1127	3	PIK3CA	3	178922340	Missense_Mutation	SNP	A	TCGA-R8-A6MO-01A-11D-A33T-08	5464	178922340	19100090	17	33403											
MUC4	4585	broad.mit.edu	37	3	195511937	195511937	+	Missense_Mutation	SNP	C	C	T			TCGA-R8-A6MO-01A-11D-A33T-08	TCGA-R8-A6MO-10C-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b826e5b4-3335-4b3c-a545-dd13a17acb2b	17ee5ee3-a2a0-4756-84ce-f1190b597115	g.chr3:195511937C>T	ENST00000463781.3	-	2	6973	c.6514G>A	c.(6514-6516)Ggt>Agt	p.G2172S	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.G2172S|MUC4_ENST00000346145.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	951					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GTGGCGTGACCTGTGGATGCT	0.577													5	4					0	0	1	0	0	T	195511937	C	T	195511937	3	4	399	1	0	0	0	0	1	0	0	0	10026	681	24	2		2	MUC4	3	195511937	Missense_Mutation	SNP	C	TCGA-R8-A6MO-01A-11D-A33T-08	16589597	195511937	2510493	18	33404											
MUC4	4585	broad.mit.edu	37	3	195516065	195516065	+	Nonsense_Mutation	SNP	G	G	A			TCGA-R8-A6MO-01A-11D-A33T-08	TCGA-R8-A6MO-10C-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b826e5b4-3335-4b3c-a545-dd13a17acb2b	17ee5ee3-a2a0-4756-84ce-f1190b597115	g.chr3:195516065G>A	ENST00000463781.3	-	2	2845	c.2386C>T	c.(2386-2388)Cga>Tga	p.R796*	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Nonsense_Mutation_p.R796*|MUC4_ENST00000346145.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	801	Ser-rich.				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GAGGTGGTTCGTGACCCTGAG	0.602													69	151					0	0	1	0	0	A	195516065	G	A	195516065	4	1	399	1	0	0	0	0	0	1	0	0	10026	1153	40	1		1	MUC4	3	195516065	Nonsense_Mutation	SNP	G	TCGA-R8-A6MO-01A-11D-A33T-08	4128	195516065	2506365	19	33405											
SORCS2	57537	broad.mit.edu	37	4	7668883	7668883	+	Silent	SNP	C	C	A			TCGA-R8-A6MO-01A-11D-A33T-08	TCGA-R8-A6MO-10C-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b826e5b4-3335-4b3c-a545-dd13a17acb2b	17ee5ee3-a2a0-4756-84ce-f1190b597115	g.chr4:7668883C>A	ENST00000507866.2	+	8	1213	c.1104C>A	c.(1102-1104)gtC>gtA	p.V368V	SORCS2_ENST00000329016.9_Silent_p.V196V	NM_020777.2	NP_065828.2	Q96PQ0	SORC2_HUMAN	sortilin-related VPS10 domain containing receptor 2	368						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	42						AATACTACGTCTCTTATCGTC	0.483													46	309					1.89013e-27	2.14787e-27	1	1	0	A	7668883	C	A	7668883	2	1	399	1	0	0	0	0	0	0	0	1	14985	900	32	4		4	SORCS2	4	7668883	Silent	SNP	C	TCGA-R8-A6MO-01A-11D-A33T-08		7668883	183485393	20	33406											
CPEB2	132864	broad.mit.edu	37	4	15055831	15055831	+	Silent	SNP	T	T	C			TCGA-R8-A6MO-01A-11D-A33T-08	TCGA-R8-A6MO-10C-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b826e5b4-3335-4b3c-a545-dd13a17acb2b	17ee5ee3-a2a0-4756-84ce-f1190b597115	g.chr4:15055831T>C	ENST00000538197.1	+	8	2451	c.2451T>C	c.(2449-2451)ttT>ttC	p.F817F	CPEB2_ENST00000345451.3_Silent_p.F342F|RP11-665G4.1_ENST00000513384.1_RNA|CPEB2_ENST00000259997.5_Silent_p.F380F|CPEB2_ENST00000541112.1_Silent_p.F809F|CPEB2_ENST00000442003.2_Silent_p.F790F|CPEB2_ENST00000507071.1_Silent_p.F372F|RP11-665G4.1_ENST00000502344.1_RNA|CPEB2_ENST00000382401.3_Silent_p.F345F|CPEB2_ENST00000382395.3_Silent_p.F350F	NM_001177382.1	NP_001170853.1	Q7Z5Q1	CPEB2_HUMAN	cytoplasmic polyadenylation element binding protein 2	372					regulation of translation	cytoplasm	nucleotide binding|RNA binding			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|skin(3)	14						AGTCCTATTTTCCACCAAAAG	0.343													112	203					0	0	1	0	0	C	15055831	T	C	15055831	2	2	399	1	0	0	0	0	0	0	0	1	3824	1780	62	3		3	CPEB2	4	15055831	Silent	SNP	T	TCGA-R8-A6MO-01A-11D-A33T-08	7386948	15055831	176098445	21	33407											
PPBP	5473	broad.mit.edu	37	4	74853701	74853701	+	Missense_Mutation	SNP	T	T	G			TCGA-R8-A6MO-01A-11D-A33T-08	TCGA-R8-A6MO-10C-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b826e5b4-3335-4b3c-a545-dd13a17acb2b	17ee5ee3-a2a0-4756-84ce-f1190b597115	g.chr4:74853701T>G	ENST00000296028.3	-	1	213	c.120A>C	c.(118-120)caA>caC	p.Q40H		NM_002704.3	NP_002695.1	P02775	CXCL7_HUMAN	pro-platelet basic protein (chemokine (C-X-C motif) ligand 7)	40					chemotaxis|defense response to bacterium|immune response|platelet activation|platelet degranulation|positive regulation of cell division	extracellular space|platelet alpha granule lumen	chemokine activity|glucose transmembrane transporter activity|growth factor activity			breast(1)|central_nervous_system(1)|lung(1)|ovary(2)|skin(2)|stomach(1)|urinary_tract(2)	10	Breast(15;0.00136)		all cancers(17;0.00273)|Lung(101;0.196)			TTCTCTTAGTTTGTCCTTTGG	0.527													52	73					0	0	1	0	0	G	74853701	T	G	74853701	3	3	399	1	0	0	0	0	1	0	0	0	12348	1838	64	5	278	5	PPBP	4	74853701	Missense_Mutation	SNP	T	TCGA-R8-A6MO-01A-11D-A33T-08	59797870	74853701	116300575	22	33408											
FRAS1	80144	broad.mit.edu	37	4	79296998	79296998	+	Missense_Mutation	SNP	G	G	C			TCGA-R8-A6MO-01A-11D-A33T-08	TCGA-R8-A6MO-10C-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b826e5b4-3335-4b3c-a545-dd13a17acb2b	17ee5ee3-a2a0-4756-84ce-f1190b597115	g.chr4:79296998G>C	ENST00000264895.6	+	26	3697	c.3257G>C	c.(3256-3258)gGc>gCc	p.G1086A	FRAS1_ENST00000325942.6_Missense_Mutation_p.G1086A	NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	1085					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						TGTGTTCCTGGCTTTTCTGTC	0.478													21	43					0	0	1	0	0	C	79296998	G	C	79296998	3	2	399	1	0	0	0	0	1	0	0	0	6076	1203	42	5	3359	5	FRAS1	4	79296998	Missense_Mutation	SNP	G	TCGA-R8-A6MO-01A-11D-A33T-08	4443297	79296998	111857278	23	33409											
FHDC1	85462	broad.mit.edu	37	4	153864692	153864692	+	Silent	SNP	A	A	G			TCGA-R8-A6MO-01A-11D-A33T-08	TCGA-R8-A6MO-10C-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b826e5b4-3335-4b3c-a545-dd13a17acb2b	17ee5ee3-a2a0-4756-84ce-f1190b597115	g.chr4:153864692A>G	ENST00000511601.1	+	2	671	c.483A>G	c.(481-483)agA>agG	p.R161R	FHDC1_ENST00000260008.3_Silent_p.R161R			Q9C0D6	FHDC1_HUMAN	FH2 domain containing 1	161	FH2.				actin cytoskeleton organization		actin binding		ARFIP1/FHDC1(2)	NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43	all_hematologic(180;0.093)					CATCCTTCAGAGAAGCTCGAG	0.428													51	84					0	0	1	0	0	G	153864692	A	G	153864692	2	3	399	1	0	0	0	0	0	0	0	1	5909	301	11	3		3	FHDC1	4	153864692	Silent	SNP	A	TCGA-R8-A6MO-01A-11D-A33T-08	74567694	153864692	37289584	24	33410											
SORBS2	8470	broad.mit.edu	37	4	186559269	186559269	+	Frame_Shift_Del	DEL	C	C	-			TCGA-R8-A6MO-01A-11D-A33T-08	TCGA-R8-A6MO-10C-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b826e5b4-3335-4b3c-a545-dd13a17acb2b	17ee5ee3-a2a0-4756-84ce-f1190b597115	g.chr4:186559269delC	ENST00000393528.3	-	12	1607	c.870delG	c.(868-870)tggfs	p.W290fs	SORBS2_ENST00000355634.5_Intron|SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000448662.2_Intron|SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000284776.7_Intron|SORBS2_ENST00000431808.1_Intron|SORBS2_ENST00000437304.2_Intron|SORBS2_ENST00000498125.1_Intron|SORBS2_ENST00000418609.1_Intron	NM_003603.6	NP_003594.3	O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	228						actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		AGAATTTATACCAGGGCTCAT	0.383													92	187	---	---	---	---						-	186559269	C	-	186559269	7	5	399	1	0	1	0	1	0	0	0	0	14982	508	18	0	2763	0	SORBS2	4	186559269	Frame_Shift_Del	DEL	C	TCGA-R8-A6MO-01A-11D-A33T-08	32694577	186559269	4595007	25	33411											
EGFLAM	133584	broad.mit.edu	37	5	38464075	38464075	+	Missense_Mutation	SNP	G	G	T			TCGA-R8-A6MO-01A-11D-A33T-08	TCGA-R8-A6MO-10C-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b826e5b4-3335-4b3c-a545-dd13a17acb2b	17ee5ee3-a2a0-4756-84ce-f1190b597115	g.chr5:38464075G>T	ENST00000322350.5	+	22	3363	c.3017G>T	c.(3016-3018)tGt>tTt	p.C1006F	EGFLAM_ENST00000354891.3_Missense_Mutation_p.C1014F|EGFLAM_ENST00000514476.1_Missense_Mutation_p.C149F|EGFLAM_ENST00000397202.2_Missense_Mutation_p.C372F|EGFLAM_ENST00000506135.1_Missense_Mutation_p.C149F|EGFLAM_ENST00000397210.3_Missense_Mutation_p.C149F|EGFLAM_ENST00000336740.6_Missense_Mutation_p.C772F|CTD-2263F21.1_ENST00000510469.1_RNA	NM_152403.3	NP_689616.2	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	1014	Laminin G-like 3.					cell junction|proteinaceous extracellular matrix|synapse				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					ATCAACACTTGTGGAGCCAAG	0.537													46	72					3.39706e-21	3.80267e-21	1	1	0	T	38464075	G	T	38464075	3	4	399	1	0	0	0	0	1	0	0	0	4992	1377	48	5	3117	5	EGFLAM	5	38464075	Missense_Mutation	SNP	G	TCGA-R8-A6MO-01A-11D-A33T-08		38464075	142451185	26	33412											
TIMD4	91937	broad.mit.edu	37	5	156378598	156378598	+	Missense_Mutation	SNP	G	G	A			TCGA-R8-A6MO-01A-11D-A33T-08	TCGA-R8-A6MO-10C-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b826e5b4-3335-4b3c-a545-dd13a17acb2b	17ee5ee3-a2a0-4756-84ce-f1190b597115	g.chr5:156378598G>A	ENST00000274532.2	-	3	660	c.604C>T	c.(604-606)Cca>Tca	p.P202S	TIMD4_ENST00000407087.3_Missense_Mutation_p.P202S	NM_138379.2	NP_612388.2	Q96H15	TIMD4_HUMAN	T-cell immunoglobulin and mucin domain containing 4	202	Thr-rich.					integral to membrane				NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2)	37	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			AGGGTGCTTGGGGTTAGTGAA	0.537													64	133					0	0	1	0	0	A	156378598	G	A	156378598	3	1	399	1	0	0	0	0	1	0	0	0	15963	1232	43	2	560	2	TIMD4	5	156378598	Missense_Mutation	SNP	G	TCGA-R8-A6MO-01A-11D-A33T-08	117914523	156378598	24536662	27	33413											
STC2	8614	broad.mit.edu	37	5	172745215	172745215	+	Missense_Mutation	SNP	C	C	A			TCGA-R8-A6MO-01A-11D-A33T-08	TCGA-R8-A6MO-10C-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b826e5b4-3335-4b3c-a545-dd13a17acb2b	17ee5ee3-a2a0-4756-84ce-f1190b597115	g.chr5:172745215C>A	ENST00000265087.4	-	4	1853	c.544G>T	c.(544-546)Ggg>Tgg	p.G182W	STC2_ENST00000520593.1_5'UTR	NM_003714.2	NP_003705.1	O76061	STC2_HUMAN	stanniocalcin 2	182					cell surface receptor linked signaling pathway|cell-cell signaling	extracellular region	hormone activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(3)	25	Renal(175;0.000159)|Lung NSC(126;0.00229)|all_lung(126;0.004)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|Ovarian(839;0.223)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			ACCTCCTCCCCACAGGTCAGC	0.552													3	55					6.4e-05	6.76056e-05	1	1	0	A	172745215	C	A	172745215	3	1	399	1	0	0	0	0	1	0	0	0	15332	594	21	5	368	5	STC2	5	172745215	Missense_Mutation	SNP	C	TCGA-R8-A6MO-01A-11D-A33T-08	16366617	172745215	8170045	28	33414											
CPEB4	80315	broad.mit.edu	37	5	173380277	173380277	+	Missense_Mutation	SNP	T	T	C			TCGA-R8-A6MO-01A-11D-A33T-08	TCGA-R8-A6MO-10C-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b826e5b4-3335-4b3c-a545-dd13a17acb2b	17ee5ee3-a2a0-4756-84ce-f1190b597115	g.chr5:173380277T>C	ENST00000519835.1	+	7	2092	c.1889T>C	c.(1888-1890)gTa>gCa	p.V630A	CPEB4_ENST00000522336.1_Splice_Site|CPEB4_ENST00000265085.5_Splice_Site|CPEB4_ENST00000517880.1_Splice_Site|CPEB4_ENST00000520867.1_Splice_Site|CPEB4_ENST00000334035.5_Splice_Site|CPEB4_ENST00000519467.1_Splice_Site			Q17RY0	CPEB4_HUMAN	cytoplasmic polyadenylation element binding protein 4	655	RRM 2.						nucleotide binding|RNA binding			NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	20	Renal(175;0.000159)|Lung NSC(126;0.0128)|all_lung(126;0.0202)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			GATAAACGGGTAAGCCTTATA	0.403													60	119					0	0	1	0	0	C	173380277	T	C	173380277	3	2	399	1	0	0	0	0	1	0	0	0	3826	1652	57	3	1998	3	CPEB4	5	173380277	Missense_Mutation	SNP	T	TCGA-R8-A6MO-01A-11D-A33T-08	635062	173380277	7534983	29	33415											
MICAL1	64780	broad.mit.edu	37	6	109766001	109766001	+	Splice_Site	SNP	C	C	T			TCGA-R8-A6MO-01A-11D-A33T-08	TCGA-R8-A6MO-10C-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b826e5b4-3335-4b3c-a545-dd13a17acb2b	17ee5ee3-a2a0-4756-84ce-f1190b597115	g.chr6:109766001C>T	ENST00000368952.4	-	24	3329	c.3039G>A	c.(3037-3039)acG>acA	p.T1013T	MICAL1_ENST00000358577.3_Splice_Site_p.T908T|MICAL1_ENST00000358807.3_Splice_Site_p.T994T			Q8TDZ2	MICA1_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 1	994					cytoskeleton organization|signal transduction	cytoplasm|intermediate filament	SH3 domain binding|zinc ion binding			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574)		ATTCCTGCACCCTGTGGAGGT	0.577													5	155					0	0	1	0	0	T	109766001	C	T	109766001	5	4	399	1	0	0	0	0	0	0	1	0	9617	637	22	2	229	2	MICAL1	6	109766001	Splice_Site	SNP	C	TCGA-R8-A6MO-01A-11D-A33T-08		109766001	61349066	30	33416											
EPB41L2	2037	broad.mit.edu	37	6	131222116	131222116	+	Silent	SNP	C	C	T			TCGA-R8-A6MO-01A-11D-A33T-08	TCGA-R8-A6MO-10C-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b826e5b4-3335-4b3c-a545-dd13a17acb2b	17ee5ee3-a2a0-4756-84ce-f1190b597115	g.chr6:131222116C>T	ENST00000337057.3	-	7	1315	c.1134G>A	c.(1132-1134)ctG>ctA	p.L378L	EPB41L2_ENST00000528282.1_Silent_p.L378L|EPB41L2_ENST00000445890.2_Silent_p.L378L|EPB41L2_ENST00000527411.1_Silent_p.L378L|EPB41L2_ENST00000525193.1_Silent_p.L378L|EPB41L2_ENST00000529208.1_Silent_p.L378L|EPB41L2_ENST00000525271.1_Silent_p.L378L|EPB41L2_ENST00000392427.3_Silent_p.L378L|EPB41L2_ENST00000368128.2_Silent_p.L378L|EPB41L2_ENST00000530481.1_Silent_p.L378L|EPB41L2_ENST00000530148.1_5'UTR|EPB41L2_ENST00000527659.1_Silent_p.L378L	NM_001431.3	NP_001422.1	O43491	E41L2_HUMAN	erythrocyte membrane protein band 4.1-like 2	378	FERM.				cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		GGGTTTTGTGCAGCTCTGCCA	0.473													6	367					0	0	1	0	0	T	131222116	C	T	131222116	2	4	399	1	0	0	0	0	0	0	0	1	5181	697	25	2		2	EPB41L2	6	131222116	Silent	SNP	C	TCGA-R8-A6MO-01A-11D-A33T-08	21456115	131222116	39892951	31	33417											
SERPINE1	5054	broad.mit.edu	37	7	100779027	100779027	+	Silent	SNP	G	G	A			TCGA-R8-A6MO-01A-11D-A33T-08	TCGA-R8-A6MO-10C-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b826e5b4-3335-4b3c-a545-dd13a17acb2b	17ee5ee3-a2a0-4756-84ce-f1190b597115	g.chr7:100779027G>A	ENST00000223095.4	+	7	1189	c.1032G>A	c.(1030-1032)ctG>ctA	p.L344L	SERPINE1_ENST00000445463.2_Silent_p.L329L	NM_000602.4	NP_000593.1	P05121	PAI1_HUMAN	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	344					angiogenesis|cellular response to chemical stimulus|cellular response to lipopolysaccharide|chronological cell aging|defense response to Gram-negative bacterium|fibrinolysis|negative regulation of apoptosis|negative regulation of cell adhesion mediated by integrin|negative regulation of fibrinolysis|negative regulation of plasminogen activation|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell-matrix adhesion|negative regulation of vascular wound healing|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of interleukin-8 production|positive regulation of leukotriene production involved in inflammatory response|positive regulation of monocyte chemotaxis|positive regulation of receptor-mediated endocytosis|regulation of receptor activity	extracellular matrix|extracellular space|plasma membrane|platelet alpha granule lumen	protease binding|serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)	20	Lung NSC(181;0.136)|all_lung(186;0.182)				Atorvastatin(DB01076)|Dimethyl sulfoxide(DB01093)|Drotrecogin alfa(DB00055)|Simvastatin(DB00641)|Tenecteplase(DB00031)|Troglitazone(DB00197)|Urokinase(DB00013)	CGCAGGCGCTGCAGAAAGTGA	0.572													4	147					0	0	1	0	0	A	100779027	G	A	100779027	2	1	399	1	0	0	0	0	0	0	0	1	14165	1306	46	2		2	SERPINE1	7	100779027	Silent	SNP	G	TCGA-R8-A6MO-01A-11D-A33T-08		100779027	58359636	32	33418											
LRGUK	136332	broad.mit.edu	37	7	133886296	133886296	+	Missense_Mutation	SNP	A	A	G			TCGA-R8-A6MO-01A-11D-A33T-08	TCGA-R8-A6MO-10C-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b826e5b4-3335-4b3c-a545-dd13a17acb2b	17ee5ee3-a2a0-4756-84ce-f1190b597115	g.chr7:133886296A>G	ENST00000285928.2	+	15	1880	c.1811A>G	c.(1810-1812)gAg>gGg	p.E604G		NM_144648.1	NP_653249.1	Q96M69	LRGUK_HUMAN	leucine-rich repeats and guanylate kinase domain containing	604							ATP binding|kinase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	49						GGATTGACTGAGGAACCTGCC	0.388													50	85					0	0	1	0	0	G	133886296	A	G	133886296	3	3	399	1	0	0	0	0	1	0	0	0	8988	304	11	3	1869	3	LRGUK	7	133886296	Missense_Mutation	SNP	A	TCGA-R8-A6MO-01A-11D-A33T-08	33107269	133886296	25252367	33	33419											
ASAH1	427	broad.mit.edu	37	8	17919903	17919903	+	Missense_Mutation	SNP	A	A	G			TCGA-R8-A6MO-01A-11D-A33T-08	TCGA-R8-A6MO-10C-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b826e5b4-3335-4b3c-a545-dd13a17acb2b	17ee5ee3-a2a0-4756-84ce-f1190b597115	g.chr8:17919903A>G	ENST00000262097.6	-	8	844	c.533T>C	c.(532-534)aTa>aCa	p.I178T	ASAH1_ENST00000381733.4_Missense_Mutation_p.I194T|ASAH1_ENST00000417108.2_Missense_Mutation_p.I88T|ASAH1_ENST00000314146.10_Missense_Mutation_p.I172T|ASAH1_ENST00000520781.1_Missense_Mutation_p.I153T	NM_177924.3	NP_808592.2	Q13510	ASAH1_HUMAN	N-acylsphingosine amidohydrolase (acid ceramidase) 1	178					ceramide metabolic process	lysosome	ceramidase activity			breast(1)|endometrium(2)|large_intestine(4)|lung(2)	9				Colorectal(111;0.0646)|COAD - Colon adenocarcinoma(73;0.228)		TTGCTCAGTTATGACCCAGGT	0.373													71	136					0	0	1	0	0	G	17919903	A	G	17919903	3	3	399	1	0	0	0	0	1	0	0	0	1005	449	16	3	682	3	ASAH1	8	17919903	Missense_Mutation	SNP	A	TCGA-R8-A6MO-01A-11D-A33T-08		17919903	128444119	34	33420											
ABCA2	20	broad.mit.edu	37	9	139907686	139907686	+	Silent	SNP	G	G	T			TCGA-R8-A6MO-01A-11D-A33T-08	TCGA-R8-A6MO-10C-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b826e5b4-3335-4b3c-a545-dd13a17acb2b	17ee5ee3-a2a0-4756-84ce-f1190b597115	g.chr9:139907686G>T	ENST00000265662.5	-	30	4782	c.4635C>A	c.(4633-4635)ctC>ctA	p.L1545L	ABCA2_ENST00000371605.3_Silent_p.L1544L|ABCA2_ENST00000341511.6_Silent_p.L1545L			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	1544					cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		CGGGAGACTTGAGCACGCAGG	0.701													3	32					1	1	1	1	0	T	139907686	G	T	139907686	2	4	399	1	0	0	0	0	0	0	0	1	32	1277	45	5		5	ABCA2	9	139907686	Silent	SNP	G	TCGA-R8-A6MO-01A-11D-A33T-08		139907686	1305745	35	33421											
ZMIZ1	57178	broad.mit.edu	37	10	81070787	81070789	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-R8-A6MO-01A-11D-A33T-08	TCGA-R8-A6MO-10C-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b826e5b4-3335-4b3c-a545-dd13a17acb2b	17ee5ee3-a2a0-4756-84ce-f1190b597115	g.chr10:81070787_81070789delCTC	ENST00000334512.5	+	24	3514_3516	c.2942_2944delCTC	c.(2941-2946)gctcct>gct	p.P986del	ZMIZ1_ENST00000446377.2_Intron	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	986	Pro-rich.				transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			CACAGTGGGGCTCCTCCTCCTCC	0.635													7	324	---	---	---	---						-	81070789	CTC	-	81070787	7	5	399	1	0	1	0	1	0	0	0	0	17754	797	28	0	3020	0	ZMIZ1	10	81070787	In_Frame_Del	DEL	CTC	TCGA-R8-A6MO-01A-11D-A33T-08		81070787	54463960	36	33422											
OR6Q1	219952	broad.mit.edu	37	11	57799202	57799202	+	Missense_Mutation	SNP	T	T	C			TCGA-R8-A6MO-01A-11D-A33T-08	TCGA-R8-A6MO-10C-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b826e5b4-3335-4b3c-a545-dd13a17acb2b	17ee5ee3-a2a0-4756-84ce-f1190b597115	g.chr11:57799202T>C	ENST00000302622.3	+	1	801	c.778T>C	c.(778-780)Ttc>Ctc	p.F260L	OR9Q1_ENST00000335397.3_Intron	NM_001005186.2	NP_001005186.2	Q8NGQ2	OR6Q1_HUMAN	olfactory receptor, family 6, subfamily Q, member 1	260					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			biliary_tract(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(21;0.0707)|all_epithelial(135;0.142)				TGGCACTCTTTTCTTTATGTA	0.517													6	265					0	0	1	0	0	C	57799202	T	C	57799202	3	2	399	1	0	0	0	0	1	0	0	0	11255	1841	64	3	780	3	OR6Q1	11	57799202	Missense_Mutation	SNP	T	TCGA-R8-A6MO-01A-11D-A33T-08		57799202	77207314	37	33423											
HTR3A	3359	broad.mit.edu	37	11	113857403	113857403	+	Missense_Mutation	SNP	T	T	G			TCGA-R8-A6MO-01A-11D-A33T-08	TCGA-R8-A6MO-10C-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b826e5b4-3335-4b3c-a545-dd13a17acb2b	17ee5ee3-a2a0-4756-84ce-f1190b597115	g.chr11:113857403T>G	ENST00000504030.2	+	7	1314	c.869T>G	c.(868-870)aTc>aGc	p.I290S	HTR3A_ENST00000535865.1_Missense_Mutation_p.I34S|HTR3A_ENST00000299961.5_Missense_Mutation_p.I275S|HTR3A_ENST00000506841.2_Missense_Mutation_p.I290S|HTR3A_ENST00000375498.2_Missense_Mutation_p.I296S|HTR3A_ENST00000355556.2_Missense_Mutation_p.I296S			P46098	5HT3A_HUMAN	5-hydroxytryptamine (serotonin) receptor 3A, ionotropic	290					digestion|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199)	TTCCTGATCATCGTTTCTGAC	0.592													5	171					0	0	1	0	0	G	113857403	T	G	113857403	3	3	399	1	0	0	0	0	1	0	0	0	7488	1435	50	4	939	4	HTR3A	11	113857403	Missense_Mutation	SNP	T	TCGA-R8-A6MO-01A-11D-A33T-08	56058201	113857403	21149113	38	33424											
PA2G4	5036	broad.mit.edu	37	12	56505011	56505011	+	Missense_Mutation	SNP	A	A	G			TCGA-R8-A6MO-01A-11D-A33T-08	TCGA-R8-A6MO-10C-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b826e5b4-3335-4b3c-a545-dd13a17acb2b	17ee5ee3-a2a0-4756-84ce-f1190b597115	g.chr12:56505011A>G	ENST00000303305.6	+	11	1402	c.983A>G	c.(982-984)aAt>aGt	p.N328S	RP11-603J24.17_ENST00000548595.1_RNA|PA2G4_ENST00000552766.1_Intron	NM_006191.2	NP_006182.2	Q9UQ80	PA2G4_HUMAN	proliferation-associated 2G4, 38kDa	328	Necessary for nucleolar localization.				cell cycle arrest|cell proliferation|negative regulation of transcription, DNA-dependent|regulation of translation|rRNA processing	cytoplasm|nucleolus|ribonucleoprotein complex	DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|ubiquitin protein ligase binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(18;0.0739)			CTCATGCCCAATGGCCCCATG	0.433													69	165					0	0	1	0	0	G	56505011	A	G	56505011	3	3	399	1	0	0	0	0	1	0	0	0	11408	101	4	3	1025	3	PA2G4	12	56505011	Missense_Mutation	SNP	A	TCGA-R8-A6MO-01A-11D-A33T-08		56505011	77346884	39	33425											
CCDC60	160777	broad.mit.edu	37	12	119909928	119909928	+	Silent	SNP	C	C	T			TCGA-R8-A6MO-01A-11D-A33T-08	TCGA-R8-A6MO-10C-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b826e5b4-3335-4b3c-a545-dd13a17acb2b	17ee5ee3-a2a0-4756-84ce-f1190b597115	g.chr12:119909928C>T	ENST00000327554.2	+	3	765	c.300C>T	c.(298-300)gcC>gcT	p.A100A	CCDC60_ENST00000546345.1_3'UTR|RP11-768F21.1_ENST00000509470.2_lincRNA	NM_178499.3	NP_848594.2	Q8IWA6	CCD60_HUMAN	coiled-coil domain containing 60	100										endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		TCCAGCCAGCCGAAAAGATCT	0.423													102	249					0	0	1	0	0	T	119909928	C	T	119909928	2	4	399	1	0	0	0	0	0	0	0	1	2851	639	23	1		1	CCDC60	12	119909928	Silent	SNP	C	TCGA-R8-A6MO-01A-11D-A33T-08	63404917	119909928	13941967	40	33426											
CENPJ	55835	broad.mit.edu	37	13	25487066	25487066	+	Missense_Mutation	SNP	C	C	T			TCGA-R8-A6MO-01A-11D-A33T-08	TCGA-R8-A6MO-10C-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b826e5b4-3335-4b3c-a545-dd13a17acb2b	17ee5ee3-a2a0-4756-84ce-f1190b597115	g.chr13:25487066C>T	ENST00000381884.4	-	2	283	c.98G>A	c.(97-99)cGt>cAt	p.R33H	CENPJ_ENST00000545981.1_Missense_Mutation_p.R33H	NM_018451.4	NP_060921.3	Q9HC77	CENPJ_HUMAN	centromere protein J	33					cell division|centriole replication|G2/M transition of mitotic cell cycle|microtubule nucleation|microtubule polymerization	centriole|cytosol|gamma-tubulin small complex|microtubule	protein domain specific binding|tubulin binding			endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)		AGGAAATCCACGATTTAATAT	0.448													4	162					0	0	1	0	0	T	25487066	C	T	25487066	3	4	399	1	0	0	0	0	1	0	0	0	3256	536	19	1	3982	1	CENPJ	13	25487066	Missense_Mutation	SNP	C	TCGA-R8-A6MO-01A-11D-A33T-08		25487066	89682812	41	33427											
RBBP6	5930	broad.mit.edu	37	16	24582966	24582966	+	Missense_Mutation	SNP	G	G	A			TCGA-R8-A6MO-01A-11D-A33T-08	TCGA-R8-A6MO-10C-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b826e5b4-3335-4b3c-a545-dd13a17acb2b	17ee5ee3-a2a0-4756-84ce-f1190b597115	g.chr16:24582966G>A	ENST00000319715.4	+	18	5011	c.4579G>A	c.(4579-4581)Gga>Aga	p.G1527R	RBBP6_ENST00000348022.2_Missense_Mutation_p.G1493R|RBBP6_ENST00000381039.3_Missense_Mutation_p.G687R	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	1527	Interaction with p53 (By similarity).				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		AAAAGGAACAGGAGATTCCAA	0.373													32	52					0	0	1	0	0	A	24582966	G	A	24582966	3	1	399	1	0	0	0	0	1	0	0	0	13155	1001	35	2	4703	2	RBBP6	16	24582966	Missense_Mutation	SNP	G	TCGA-R8-A6MO-01A-11D-A33T-08		24582966	65771787	42	33428											
IRX5	10265	broad.mit.edu	37	16	54967008	54967008	+	Silent	SNP	G	G	A			TCGA-R8-A6MO-01A-11D-A33T-08	TCGA-R8-A6MO-10C-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b826e5b4-3335-4b3c-a545-dd13a17acb2b	17ee5ee3-a2a0-4756-84ce-f1190b597115	g.chr16:54967008G>A	ENST00000394636.4	+	3	1012	c.675G>A	c.(673-675)gcG>gcA	p.A225A	IRX5_ENST00000320990.5_Silent_p.A224A|IRX5_ENST00000558597.1_Silent_p.A159A|IRX5_ENST00000560154.1_Intron			P78411	IRX5_HUMAN	iroquois homeobox 5	225					response to stimulus|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|vitamin D binding			kidney(3)|large_intestine(6)|lung(4)|prostate(1)	14						AGCAGAAGGCGGCTTCGGGCT	0.706													18	14					0	0	1	0	0	A	54967008	G	A	54967008	2	1	399	1	0	0	0	0	0	0	0	1	7891	1103	39	1		1	IRX5	16	54967008	Silent	SNP	G	TCGA-R8-A6MO-01A-11D-A33T-08	30384042	54967008	35387745	43	33429											
IRX5	10265	broad.mit.edu	37	16	54967130	54967131	+	Frame_Shift_Ins	INS	-	-	C			TCGA-R8-A6MO-01A-11D-A33T-08	TCGA-R8-A6MO-10C-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b826e5b4-3335-4b3c-a545-dd13a17acb2b	17ee5ee3-a2a0-4756-84ce-f1190b597115	g.chr16:54967130_54967131insC	ENST00000394636.4	+	3	1134_1135	c.797_798insC	c.(796-801)ggccccfs	p.GP266fs	IRX5_ENST00000560154.1_Intron|IRX5_ENST00000320990.5_Frame_Shift_Ins_p.GP265fs|IRX5_ENST00000558597.1_Frame_Shift_Ins_p.GP200fs			P78411	IRX5_HUMAN	iroquois homeobox 5	266					response to stimulus|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|vitamin D binding			kidney(3)|large_intestine(6)|lung(4)|prostate(1)	14						GCGCTGCAgggccccccccgca	0.792													2	4	---	---	---	---						C	54967131	-	C	54967130	7	5	399	1	0	1	1	0	0	0	0	0	7891	1203	42	0	807	0	IRX5	16	54967130	Frame_Shift_Ins	INS	-	TCGA-R8-A6MO-01A-11D-A33T-08	122	54967130	35387623	44	33430											
ZFPM1	161882	broad.mit.edu	37	16	88600445	88600445	+	Frame_Shift_Del	DEL	C	C	-			TCGA-R8-A6MO-01A-11D-A33T-08	TCGA-R8-A6MO-10C-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b826e5b4-3335-4b3c-a545-dd13a17acb2b	17ee5ee3-a2a0-4756-84ce-f1190b597115	g.chr16:88600445delC	ENST00000319555.3	+	10	2401	c.2079delC	c.(2077-2079)agcfs	p.S693fs		NM_153813.2	NP_722520.2	Q8IX07	FOG1_HUMAN	zinc finger protein, FOG family member 1	693					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	DNA binding|transcription factor binding|zinc ion binding			central_nervous_system(1)|ovary(2)|urinary_tract(1)	4				BRCA - Breast invasive adenocarcinoma(80;0.0478)		TCCGCTTCAGCCGCCACGAGA	0.761													2	4	---	---	---	---						-	88600445	C	-	88600445	7	5	399	1	0	1	0	1	0	0	0	0	17715	738	26	0	2117	0	ZFPM1	16	88600445	Frame_Shift_Del	DEL	C	TCGA-R8-A6MO-01A-11D-A33T-08	33633315	88600445	1754308	45	33431											
KCNJ12	3768	broad.mit.edu	37	17	21319252	21319252	+	Missense_Mutation	SNP	G	G	A			TCGA-R8-A6MO-01A-11D-A33T-08	TCGA-R8-A6MO-10C-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b826e5b4-3335-4b3c-a545-dd13a17acb2b	17ee5ee3-a2a0-4756-84ce-f1190b597115	g.chr17:21319252G>A	ENST00000583088.1	+	3	1493	c.598G>A	c.(598-600)Gcc>Acc	p.A200T	KCNJ12_ENST00000331718.5_Missense_Mutation_p.A200T	NM_021012.4	NP_066292.2			potassium inwardly-rectifying channel, subfamily J, member 12											NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)		CAGCCACAACGCCGTGGTGGC	0.612										Prostate(3;0.18)			18	101					0	0	1	0	0	A	21319252	G	A	21319252	3	1	399	1	0	0	0	0	1	0	0	0	8090	1087	38	1	600	1	KCNJ12	17	21319252	Missense_Mutation	SNP	G	TCGA-R8-A6MO-01A-11D-A33T-08		21319252	59875958	46	33432											
ARRDC5	645432	broad.mit.edu	37	19	4896810	4896810	+	Missense_Mutation	SNP	C	C	T			TCGA-R8-A6MO-01A-11D-A33T-08	TCGA-R8-A6MO-10C-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b826e5b4-3335-4b3c-a545-dd13a17acb2b	17ee5ee3-a2a0-4756-84ce-f1190b597115	g.chr19:4896810C>T	ENST00000381781.2	-	2	373	c.374G>A	c.(373-375)aGc>aAc	p.S125N		NM_001080523.1	NP_001073992.1	A6NEK1	ARRD5_HUMAN	arrestin domain containing 5	125					signal transduction					endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0257)		GCCAAATTTGCTGGTGAAGGT	0.448													5	196					0	0	1	0	0	T	4896810	C	T	4896810	3	4	399	1	0	0	0	0	1	0	0	0	985	797	28	2	662	2	ARRDC5	19	4896810	Missense_Mutation	SNP	C	TCGA-R8-A6MO-01A-11D-A33T-08		4896810	54232173	47	33433											
CDC37	11140	broad.mit.edu	37	19	10505756	10505756	+	Missense_Mutation	SNP	C	C	T			TCGA-R8-A6MO-01A-11D-A33T-08	TCGA-R8-A6MO-10C-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b826e5b4-3335-4b3c-a545-dd13a17acb2b	17ee5ee3-a2a0-4756-84ce-f1190b597115	g.chr19:10505756C>T	ENST00000222005.2	-	5	720	c.667G>A	c.(667-669)Gcc>Acc	p.A223T		NM_007065.3	NP_008996.1	Q16543	CDC37_HUMAN	cell division cycle 37	223					protein targeting|regulation of cyclin-dependent protein kinase activity|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway		unfolded protein binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	16			OV - Ovarian serous cystadenocarcinoma(20;4.65e-10)|Epithelial(33;6.48e-07)|all cancers(31;2.31e-06)	GBM - Glioblastoma multiforme(1328;0.0318)		AGGCTCTTGGCCAGCTCCAGG	0.592													4	174					0	0	1	0	0	T	10505756	C	T	10505756	3	4	399	1	0	0	0	0	1	0	0	0	3090	739	26	2	485	2	CDC37	19	10505756	Missense_Mutation	SNP	C	TCGA-R8-A6MO-01A-11D-A33T-08	5608946	10505756	48623227	48	33434											
CIC	23152	broad.mit.edu	37	19	42791757	42791757	+	Missense_Mutation	SNP	C	C	T			TCGA-R8-A6MO-01A-11D-A33T-08	TCGA-R8-A6MO-10C-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b826e5b4-3335-4b3c-a545-dd13a17acb2b	17ee5ee3-a2a0-4756-84ce-f1190b597115	g.chr19:42791757C>T	ENST00000572681.2	+	6	3438	c.3370C>T	c.(3370-3372)Cgg>Tgg	p.R1124W	CIC_ENST00000575354.2_Missense_Mutation_p.R215W|CIC_ENST00000160740.3_Missense_Mutation_p.R215W			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	215	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	p.R215W(4)		autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CAAGCGGCACCGGGCCCTGGT	0.612			"Mis, F, S"		oligodendroglioma								47	34					0	0	1	0	0	T	42791757	C	T	42791757	3	4	399	1	0	0	0	0	1	0	0	0	3446	643	23	1	661	1	CIC	19	42791757	Missense_Mutation	SNP	C	TCGA-R8-A6MO-01A-11D-A33T-08	32286001	42791757	16337226	49	33435											
TRMT6	51605	broad.mit.edu	37	20	5927167	5927167	+	Silent	SNP	G	G	A			TCGA-R8-A6MO-01A-11D-A33T-08	TCGA-R8-A6MO-10C-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b826e5b4-3335-4b3c-a545-dd13a17acb2b	17ee5ee3-a2a0-4756-84ce-f1190b597115	g.chr20:5927167G>A	ENST00000203001.2	-	2	271	c.141C>T	c.(139-141)ttC>ttT	p.F47F	TRMT6_ENST00000453074.2_5'UTR|TRMT6_ENST00000473131.1_5'UTR	NM_015939.3	NP_057023.2	Q9UJA5	TRM6_HUMAN	tRNA methyltransferase 6 homolog (S. cerevisiae)	47					regulation of translational initiation|tRNA processing	nucleus	protein binding|translation initiation factor activity			breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)	15						ACTGTTTTTCGAAAGTTACTT	0.373													43	80					0	0	1	0	0	A	5927167	G	A	5927167	2	1	399	1	0	0	0	0	0	0	0	1	16629	1049	37	1		1	TRMT6	20	5927167	Silent	SNP	G	TCGA-R8-A6MO-01A-11D-A33T-08		5927167	57098353	50	33436											
SAMSN1	64092	broad.mit.edu	37	21	15882705	15882705	+	Missense_Mutation	SNP	G	G	A			TCGA-R8-A6MO-01A-11D-A33T-08	TCGA-R8-A6MO-10C-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b826e5b4-3335-4b3c-a545-dd13a17acb2b	17ee5ee3-a2a0-4756-84ce-f1190b597115	g.chr21:15882705G>A	ENST00000285670.2	-	6	865	c.691C>T	c.(691-693)Cca>Tca	p.P231S	SAMSN1_ENST00000400564.1_Intron|SAMSN1_ENST00000400566.1_Missense_Mutation_p.P163S	NM_001256370.1	NP_001243299.1	Q9NSI8	SAMN1_HUMAN	SAM domain, SH3 domain and nuclear localization signals 1	163					negative regulation of adaptive immune response|negative regulation of B cell activation|negative regulation of peptidyl-tyrosine phosphorylation	cytoplasm|nucleus|ruffle	phosphotyrosine binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	24				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164)		CCACAGAATGGTCCTGAATAG	0.502													15	166					0	0	1	0	0	A	15882705	G	A	15882705	3	1	399	1	0	0	0	0	1	0	0	0	13882	1261	44	2	650	2	SAMSN1	21	15882705	Missense_Mutation	SNP	G	TCGA-R8-A6MO-01A-11D-A33T-08		15882705	32247190	51	33437											
TSSK2	23617	broad.mit.edu	37	22	19119046	19119046	+	Missense_Mutation	SNP	G	G	A			TCGA-R8-A6MO-01A-11D-A33T-08	TCGA-R8-A6MO-10C-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b826e5b4-3335-4b3c-a545-dd13a17acb2b	17ee5ee3-a2a0-4756-84ce-f1190b597115	g.chr22:19119046G>A	ENST00000399635.2	+	1	726	c.134G>A	c.(133-135)cGc>cAc	p.R45H	DGCR14_ENST00000252137.6_3'UTR	NM_053006.4	NP_443732.3	Q96PF2	TSSK2_HUMAN	testis-specific serine kinase 2	45	Protein kinase.				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			endometrium(2)|large_intestine(2)|lung(2)|prostate(4)|stomach(1)	11	Colorectal(54;0.0993)					ATCATCGACCGCAAGAAAACA	0.488													4	132					0	0	1	0	0	A	19119046	G	A	19119046	3	1	399	1	0	0	0	0	1	0	0	0	16730	1087	38	1	136	1	TSSK2	22	19119046	Missense_Mutation	SNP	G	TCGA-R8-A6MO-01A-11D-A33T-08		19119046	32185520	52	33438											
MYO18B	84700	broad.mit.edu	37	22	26239776	26239776	+	Missense_Mutation	SNP	C	C	T	rs34356798		TCGA-R8-A6MO-01A-11D-A33T-08	TCGA-R8-A6MO-10C-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b826e5b4-3335-4b3c-a545-dd13a17acb2b	17ee5ee3-a2a0-4756-84ce-f1190b597115	g.chr22:26239776C>T	ENST00000335473.7	+	18	3533	c.3283C>T	c.(3283-3285)Cgg>Tgg	p.R1095W	MYO18B_ENST00000407587.2_Missense_Mutation_p.R1096W|MYO18B_ENST00000536101.1_Missense_Mutation_p.R1095W	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	1095	Myosin head-like.		R -> L (in a lung adenocarcinoma sample; somatic mutation).			nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						GGACCCTGTGCGGTACGACCT	0.612													4	178					0	0	1	0	0	T	26239776	C	T	26239776	3	4	399	1	0	0	0	0	1	0	0	0	10114	759	27	1	3349	1	MYO18B	22	26239776	Missense_Mutation	SNP	C	TCGA-R8-A6MO-01A-11D-A33T-08	7120730	26239776	25064790	53	33439											
CHRDL1	91851	broad.mit.edu	37	X	109931822	109931822	+	Splice_Site	SNP	C	C	A			TCGA-R8-A6MO-01A-11D-A33T-08	TCGA-R8-A6MO-10C-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b826e5b4-3335-4b3c-a545-dd13a17acb2b	17ee5ee3-a2a0-4756-84ce-f1190b597115	g.chrX:109931822C>A	ENST00000218054.4	-	9	1181	c.985G>T	c.(985-987)Gaa>Taa	p.E329*	CHRDL1_ENST00000482160.1_Splice_Site_p.E250*|CHRDL1_ENST00000394797.4_Splice_Site_p.E329*|CHRDL1_ENST00000372045.1_Splice_Site_p.E323*|CHRDL1_ENST00000434224.1_Splice_Site_p.E250*|CHRDL1_ENST00000444321.2_Splice_Site_p.E329*|CHRDL1_ENST00000372042.1_Splice_Site_p.E330*	NM_001143981.1|NM_001143982.1|NM_145234.3	NP_001137453.1|NP_001137454.1|NP_660277.2	Q9BU40	CRDL1_HUMAN	chordin-like 1	323					BMP signaling pathway|cell differentiation|nervous system development|ossification	extracellular region				endometrium(1)|large_intestine(12)|liver(1)|lung(15)|prostate(1)|skin(1)	31						ACCAACGCACCTTTTGCTTTT	0.413													114	210					7.82854e-59	9.17407e-59	1	1	0	A	109931822	C	A	109931822	5	1	399	1	0	0	0	0	0	0	1	0	3395	695	24	4	404	4	CHRDL1	23	109931822	Splice_Site	SNP	C	TCGA-R8-A6MO-01A-11D-A33T-08		109931822	45338738	54	33440											
MAGEA6	4105	broad.mit.edu	37	X	151870087	151870087	+	Silent	SNP	G	G	T	rs79585035		TCGA-R8-A6MO-01A-11D-A33T-08	TCGA-R8-A6MO-10C-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b826e5b4-3335-4b3c-a545-dd13a17acb2b	17ee5ee3-a2a0-4756-84ce-f1190b597115	g.chrX:151870087G>T	ENST00000329342.5	+	3	1002	c.777G>T	c.(775-777)cgG>cgT	p.R259R		NM_005363.2	NP_005354.1	P43360	MAGA6_HUMAN	melanoma antigen family A, 6	259	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)					TGGAGTACCGGCAGGTCCCCG	0.522													182	337					3.86445e-50	4.45898e-50	1	1	0	T	151870087	G	T	151870087	2	4	399	1	0	0	0	0	0	0	0	1	9218	1190	42	5		5	MAGEA6	23	151870087	Silent	SNP	G	TCGA-R8-A6MO-01A-11D-A33T-08	41938265	151870087	3400473	55	33441											
PNCK	139728	broad.mit.edu	37	X	152938703	152938703	+	Missense_Mutation	SNP	C	C	A			TCGA-R8-A6MO-01A-11D-A33T-08	TCGA-R8-A6MO-10C-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b826e5b4-3335-4b3c-a545-dd13a17acb2b	17ee5ee3-a2a0-4756-84ce-f1190b597115	g.chrX:152938703C>A	ENST00000370145.4	-	1	40	c.23G>T	c.(22-24)gGc>gTc	p.G8V	PNCK_ENST00000475172.1_Intron|PNCK_ENST00000370150.1_Intron|PNCK_ENST00000393831.2_Intron|PNCK_ENST00000340888.3_Intron|PNCK_ENST00000447676.2_Intron|PNCK_ENST00000370142.1_Intron	NM_001135740.1	NP_001129212.1	Q6P2M8	KCC1B_HUMAN	pregnancy up-regulated nonubiquitous CaM kinase	0						cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			breast(2)|lung(3)|skin(1)	6	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCCAGCGAGGCCACCGCATAC	0.716													13	26					1.3612e-06	1.47957e-06	1	1	0	A	152938703	C	A	152938703	3	1	399	1	0	0	0	0	1	0	0	0	12193	739	26	5	1103	5	PNCK	23	152938703	Missense_Mutation	SNP	C	TCGA-R8-A6MO-01A-11D-A33T-08	1068616	152938703	2331857	56	33442											
ADIPOR1	51094	broad.mit.edu	37	1	202915646	202915646	+	Silent	SNP	G	G	A			TCGA-R8-A6YH-01A-21D-A32B-08	TCGA-R8-A6YH-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	869ec76d-1e6f-40c1-9bd6-9d26bfd543ad	34cd7573-262b-451f-a866-4540450147b3	g.chr1:202915646G>A	ENST00000340990.5	-	4	649	c.351C>T	c.(349-351)ccC>ccT	p.P117P	ADIPOR1_ENST00000436244.1_Silent_p.P117P|ADIPOR1_ENST00000367254.3_Silent_p.P117P	NM_015999.4	NP_057083.2	Q96A54	ADR1_HUMAN	adiponectin receptor 1	117					fatty acid oxidation|hormone-mediated signaling pathway	integral to membrane|plasma membrane	hormone binding|protein kinase binding|receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	16			BRCA - Breast invasive adenocarcinoma(75;0.141)			AGGAGGGCATGGGAGGTCTAT	0.512													3	52					0	0	1	0	0	A	202915646	G	A	202915646	2	1	400	1	0	0	0	0	0	0	0	1	317	1335	47	2		2	ADIPOR1	1	202915646	Silent	SNP	G	TCGA-R8-A6YH-01A-21D-A32B-08		202915646	46334975	1	33443											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-R8-A6YH-01A-21D-A32B-08	TCGA-R8-A6YH-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	869ec76d-1e6f-40c1-9bd6-9d26bfd543ad	34cd7573-262b-451f-a866-4540450147b3	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	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								17	23					0	0	1	0	0	T	209113112	C	T	209113112	3	4	400	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-R8-A6YH-01A-21D-A32B-08		209113112	34086261	2	33444											
FOXQ1	94234	broad.mit.edu	37	6	1313791	1313791	+	Frame_Shift_Del	DEL	C	C	-			TCGA-R8-A6YH-01A-21D-A32B-08	TCGA-R8-A6YH-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	869ec76d-1e6f-40c1-9bd6-9d26bfd543ad	34cd7573-262b-451f-a866-4540450147b3	g.chr6:1313791delC	ENST00000296839.2	+	1	1117	c.852delC	c.(850-852)cgcfs	p.R285fs		NM_033260.3	NP_150285.3	Q9C009	FOXQ1_HUMAN	forkhead box Q1	285	Pro-rich.				DNA fragmentation involved in apoptotic nuclear change|embryo development|hair follicle morphogenesis|pattern specification process|positive regulation of caspase activity|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	caspase regulator activity|DNA bending activity|double-stranded DNA binding|estrogen receptor binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|ubiquitin conjugating enzyme binding			lung(1)|urinary_tract(1)	2	Ovarian(93;0.0733)	Breast(5;0.052)|all_lung(73;0.0713)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.0954)|BRCA - Breast invasive adenocarcinoma(62;0.18)		TCCGCAGCCGCCGCCTCAGGG	0.776													2	4	---	---	---	---						-	1313791	C	-	1313791	7	5	400	1	0	1	0	1	0	0	0	0	6064	726	26	0	854	0	FOXQ1	6	1313791	Frame_Shift_Del	DEL	C	TCGA-R8-A6YH-01A-21D-A32B-08		1313791	169801276	3	33445											
TTBK1	84630	broad.mit.edu	37	6	43223344	43223344	+	Missense_Mutation	SNP	G	G	T			TCGA-R8-A6YH-01A-21D-A32B-08	TCGA-R8-A6YH-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	869ec76d-1e6f-40c1-9bd6-9d26bfd543ad	34cd7573-262b-451f-a866-4540450147b3	g.chr6:43223344G>T	ENST00000259750.4	+	8	780	c.697G>T	c.(697-699)Gca>Tca	p.A233S	TTBK1_ENST00000304139.5_Missense_Mutation_p.A182S	NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	233	Protein kinase.					cell junction|cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			GGTGGAGTTTGCAGTGGGCCA	0.632													6	7					4.096e-09	4.45217e-09	1	1	0	T	43223344	G	T	43223344	3	4	400	1	0	0	0	0	1	0	0	0	16738	1319	46	5	723	5	TTBK1	6	43223344	Missense_Mutation	SNP	G	TCGA-R8-A6YH-01A-21D-A32B-08	41909553	43223344	127891723	4	33446											
SEMA4D	10507	broad.mit.edu	37	9	91994297	91994297	+	Silent	SNP	T	T	C			TCGA-R8-A6YH-01A-21D-A32B-08	TCGA-R8-A6YH-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	869ec76d-1e6f-40c1-9bd6-9d26bfd543ad	34cd7573-262b-451f-a866-4540450147b3	g.chr9:91994297T>C	ENST00000450295.1	-	16	2687	c.1911A>G	c.(1909-1911)caA>caG	p.Q637Q	SEMA4D_ENST00000339861.4_Intron|SEMA4D_ENST00000343780.4_Intron|SEMA4D_ENST00000438547.2_Silent_p.Q637Q|SEMA4D_ENST00000420987.1_Intron|SEMA4D_ENST00000422704.2_Silent_p.Q637Q|SEMA4D_ENST00000455551.2_Intron|SEMA4D_ENST00000356444.2_Silent_p.Q637Q			Q92854	SEM4D_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4D	637					anti-apoptosis|axon guidance|cell adhesion|immune response	integral to membrane|plasma membrane	receptor activity|receptor binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(8)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34						TGGCGACCACTTGGAAGACCG	0.517													6	233					0	0	1	0	0	C	91994297	T	C	91994297	2	2	400	1	0	0	0	0	0	0	0	1	14088	1606	56	3		3	SEMA4D	9	91994297	Silent	SNP	T	TCGA-R8-A6YH-01A-21D-A32B-08		91994297	49219134	5	33447											
MOAP1	64112	broad.mit.edu	37	14	93649977	93649977	+	Missense_Mutation	SNP	C	C	G			TCGA-R8-A6YH-01A-21D-A32B-08	TCGA-R8-A6YH-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	869ec76d-1e6f-40c1-9bd6-9d26bfd543ad	34cd7573-262b-451f-a866-4540450147b3	g.chr14:93649977C>G	ENST00000556883.1	-	2	1095	c.611G>C	c.(610-612)aGg>aCg	p.R204T	MOAP1_ENST00000298894.4_Missense_Mutation_p.R204T			Q96BY2	MOAP1_HUMAN	modulator of apoptosis 1	204	RASSF1-binding.				activation of caspase activity|apoptotic nuclear change	cytoplasm	protein homodimerization activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)	13		all_cancers(154;0.00528)|Acute lymphoblastic leukemia(33;0.0497)|all_epithelial(191;0.125)|all_neural(303;0.13)		Epithelial(152;0.178)|all cancers(159;0.2)|COAD - Colon adenocarcinoma(157;0.204)		tagcaatcgccttctcttctc	0.463													5	65					0	0	1	0	0	G	93649977	C	G	93649977	3	3	400	1	0	0	0	0	1	0	0	0	9729	681	24	4	448	4	MOAP1	14	93649977	Missense_Mutation	SNP	C	TCGA-R8-A6YH-01A-21D-A32B-08		93649977	13699563	6	33448											
ZNF710	374655	broad.mit.edu	37	15	90611149	90611149	+	Silent	SNP	T	T	G			TCGA-R8-A6YH-01A-21D-A32B-08	TCGA-R8-A6YH-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	869ec76d-1e6f-40c1-9bd6-9d26bfd543ad	34cd7573-262b-451f-a866-4540450147b3	g.chr15:90611149T>G	ENST00000268154.4	+	2	1031	c.780T>G	c.(778-780)ggT>ggG	p.G260G		NM_198526.2	NP_940928.2	Q8N1W2	ZN710_HUMAN	zinc finger protein 710	260					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(1)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	19	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.00769)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.129)			ACACGGCGGGTTCGACCGTGG	0.652													5	45					0	0	1	0	0	G	90611149	T	G	90611149	2	3	400	1	0	0	0	0	0	0	0	1	18171	1712	60	5		5	ZNF710	15	90611149	Silent	SNP	T	TCGA-R8-A6YH-01A-21D-A32B-08		90611149	11920243	7	33449											
CHTF18	63922	broad.mit.edu	37	16	838678	838678	+	Frame_Shift_Del	DEL	G	G	-			TCGA-R8-A6YH-01A-21D-A32B-08	TCGA-R8-A6YH-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	869ec76d-1e6f-40c1-9bd6-9d26bfd543ad	34cd7573-262b-451f-a866-4540450147b3	g.chr16:838678delG	ENST00000317063.6	+	2	585	c.585delG	c.(583-585)gcgfs	p.A195fs	CHTF18_ENST00000455171.2_5'UTR|CHTF18_ENST00000262315.9_5'UTR			Q8WVB6	CTF18_HUMAN	CTF18, chromosome transmission fidelity factor 18 homolog (S. cerevisiae)	0					cell cycle|DNA replication	nucleus	ATP binding|DNA binding|nucleoside-triphosphatase activity			endometrium(1)|kidney(3)|liver(2)|lung(4)|prostate(1)	11		Hepatocellular(780;0.00335)				TCGGGCTCGCGGACGGTATGG	0.721													2	4	---	---	---	---						-	838678	G	-	838678	7	5	400	1	0	1	0	1	0	0	0	0	3436	1131	39	0		0	CHTF18	16	838678	Frame_Shift_Del	DEL	G	TCGA-R8-A6YH-01A-21D-A32B-08		838678	89516075	8	33450											
PSMB6	5694	broad.mit.edu	37	17	4699584	4699584	+	Frame_Shift_Del	DEL	C	C	-			TCGA-R8-A6YH-01A-21D-A32B-08	TCGA-R8-A6YH-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	869ec76d-1e6f-40c1-9bd6-9d26bfd543ad	34cd7573-262b-451f-a866-4540450147b3	g.chr17:4699584delC	ENST00000270586.3	+	1	146	c.95delC	c.(94-96)tccfs	p.S32fs		NM_001270481.1|NM_002798.2	NP_001257410.1|NP_002789.1	P28072	PSB6_HUMAN	proteasome (prosome, macropain) subunit, beta type, 6	32					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex	threonine-type endopeptidase activity			endometrium(3)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	11						CGAGAAGTTTCCACTGGGGTG	0.607													2	4	---	---	---	---						-	4699584	C	-	4699584	7	5	400	1	0	1	0	1	0	0	0	0	12730	855	30	0	97	0	PSMB6	17	4699584	Frame_Shift_Del	DEL	C	TCGA-R8-A6YH-01A-21D-A32B-08		4699584	76495626	9	33451											
TP53	7157	broad.mit.edu	37	17	7577115	7577115	+	Missense_Mutation	SNP	A	A	G			TCGA-R8-A6YH-01A-21D-A32B-08	TCGA-R8-A6YH-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	869ec76d-1e6f-40c1-9bd6-9d26bfd543ad	34cd7573-262b-451f-a866-4540450147b3	g.chr17:7577115A>G	ENST00000420246.2	-	8	955	c.823T>C	c.(823-825)Tgt>Cgt	p.C275R	TP53_ENST00000455263.2_Missense_Mutation_p.C275R|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.C275R|TP53_ENST00000445888.2_Missense_Mutation_p.C275R|TP53_ENST00000269305.4_Missense_Mutation_p.C275R	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	275	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(8)|p.C275G(7)|p.C275R(7)|p.C275fs*31(2)|p.?(2)|p.C275fs*20(1)|p.L265_K305del41(1)|p.R273_C275delRVC(1)|p.F270_D281del12(1)|p.V274_P278del(1)|p.S269fs*21(1)|p.C275fs*67(1)|p.C275fs*70(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(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)		GGACAGGCACAAACACGCACC	0.552		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)			21	2					0	0	1	0	0	G	7577115	A	G	7577115	3	3	400	1	0	0	0	0	1	0	0	0	16442	130	5	3	463	3	TP53	17	7577115	Missense_Mutation	SNP	A	TCGA-R8-A6YH-01A-21D-A32B-08	2877531	7577115	73618095	10	33452											
DNAH17	8632	broad.mit.edu	37	17	76533486	76533486	+	Silent	SNP	C	C	T			TCGA-R8-A6YH-01A-21D-A32B-08	TCGA-R8-A6YH-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	869ec76d-1e6f-40c1-9bd6-9d26bfd543ad	34cd7573-262b-451f-a866-4540450147b3	g.chr17:76533486C>T	ENST00000389840.5	-	19	2878	c.2754G>A	c.(2752-2754)gtG>gtA	p.V918V	DNAH17_ENST00000585328.1_Silent_p.V915V					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			GATCTGAGCCCACCTCCAGGG	0.602													6	17					0	0	1	0	0	T	76533486	C	T	76533486	2	4	400	1	0	0	0	0	0	0	0	1	4629	581	21	2		2	DNAH17	17	76533486	Silent	SNP	C	TCGA-R8-A6YH-01A-21D-A32B-08	68956371	76533486	4661724	11	33453											
ROCK1	6093	broad.mit.edu	37	18	18550345	18550345	+	Silent	SNP	T	T	C			TCGA-R8-A6YH-01A-21D-A32B-08	TCGA-R8-A6YH-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	869ec76d-1e6f-40c1-9bd6-9d26bfd543ad	34cd7573-262b-451f-a866-4540450147b3	g.chr18:18550345T>C	ENST00000399799.2	-	23	3724	c.2784A>G	c.(2782-2784)agA>agG	p.R928R		NM_005406.2	NP_005397.1	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein kinase 1		Glu-rich.				actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction	centriole|cytosol|Golgi membrane	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16	Melanoma(1;0.165)					TAATCTCTTGTCTATTTCTTG	0.368													16	29					0	0	1	0	0	C	18550345	T	C	18550345	2	2	400	1	0	0	0	0	0	0	0	1	13569	1664	58	3		3	ROCK1	18	18550345	Silent	SNP	T	TCGA-R8-A6YH-01A-21D-A32B-08		18550345	59526903	12	33454											
FBXO15	201456	broad.mit.edu	37	18	71740801	71740801	+	Silent	SNP	G	G	A			TCGA-R8-A6YH-01A-21D-A32B-08	TCGA-R8-A6YH-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	869ec76d-1e6f-40c1-9bd6-9d26bfd543ad	34cd7573-262b-451f-a866-4540450147b3	g.chr18:71740801G>A	ENST00000269500.5	-	10	1535	c.1200C>T	c.(1198-1200)caC>caT	p.H400H	FBXO15_ENST00000419743.2_Silent_p.H476H|FBXO15_ENST00000580806.1_5'UTR	NM_152676.2	NP_689889.1	Q8NCQ5	FBX15_HUMAN	F-box protein 15	400										autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	27		Esophageal squamous(42;0.103)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.143)		CCAGCTCCACGTGCACTCTTC	0.502													85	90					0	0	1	0	0	A	71740801	G	A	71740801	2	1	400	1	0	0	0	0	0	0	0	1	5761	1136	40	1		1	FBXO15	18	71740801	Silent	SNP	G	TCGA-R8-A6YH-01A-21D-A32B-08	53190456	71740801	6336447	13	33455											
ZNF581	51545	broad.mit.edu	37	19	56156055	56156055	+	Missense_Mutation	SNP	G	G	A			TCGA-R8-A6YH-01A-21D-A32B-08	TCGA-R8-A6YH-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	869ec76d-1e6f-40c1-9bd6-9d26bfd543ad	34cd7573-262b-451f-a866-4540450147b3	g.chr19:56156055G>A	ENST00000587252.1	+	2	391	c.118G>A	c.(118-120)Gga>Aga	p.G40R	ZNF581_ENST00000270451.5_Missense_Mutation_p.G40R|ZNF581_ENST00000588537.1_Missense_Mutation_p.G40R			Q9P0T4	ZN581_HUMAN	zinc finger protein 581	40					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|lung(1)|ovary(1)	3		Ovarian(87;0.133)	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)		CTCCTCCATCGGATCTCCCCA	0.612													10	4					0	0	1	0	0	A	56156055	G	A	56156055	3	1	400	1	0	0	0	0	1	0	0	0	18070	1117	39	1	120	1	ZNF581	19	56156055	Missense_Mutation	SNP	G	TCGA-R8-A6YH-01A-21D-A32B-08		56156055	2972928	14	33456											
CTSA	5476	broad.mit.edu	37	20	44523724	44523724	+	Missense_Mutation	SNP	G	G	A			TCGA-R8-A6YH-01A-21D-A32B-08	TCGA-R8-A6YH-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	869ec76d-1e6f-40c1-9bd6-9d26bfd543ad	34cd7573-262b-451f-a866-4540450147b3	g.chr20:44523724G>A	ENST00000372484.3	+	11	1376	c.1094G>A	c.(1093-1095)cGg>cAg	p.R365Q	CTSA_ENST00000191018.5_Missense_Mutation_p.R347Q|CTSA_ENST00000354880.5_Missense_Mutation_p.R348Q|CTSA_ENST00000372459.2_Missense_Mutation_p.R347Q	NM_000308.2|NM_001127695.1	NP_000299.2|NP_001121167.1	P10619	PPGB_HUMAN	cathepsin A	347					intracellular protein transport|proteolysis	endoplasmic reticulum|lysosome|nucleus	enzyme activator activity|protein binding|serine-type carboxypeptidase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.0122)				CCGTACGTGCGGAAGGCCCTC	0.612													17	22					0	0	1	0	0	A	44523724	G	A	44523724	3	1	400	1	0	0	0	0	1	0	0	0	4053	1116	39	1	1136	1	CTSA	20	44523724	Missense_Mutation	SNP	G	TCGA-R8-A6YH-01A-21D-A32B-08		44523724	18501796	15	33457											
SYCP2	10388	broad.mit.edu	37	20	58467639	58467639	+	Silent	SNP	T	T	C			TCGA-R8-A6YH-01A-21D-A32B-08	TCGA-R8-A6YH-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	869ec76d-1e6f-40c1-9bd6-9d26bfd543ad	34cd7573-262b-451f-a866-4540450147b3	g.chr20:58467639T>C	ENST00000357552.3	-	23	2136	c.1911A>G	c.(1909-1911)ggA>ggG	p.G637G	SYCP2_ENST00000371001.2_Silent_p.G637G			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	637					cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding			NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			TCAATGTGTCTCCTGACGAAG	0.313													3	38					0	0	1	0	0	C	58467639	T	C	58467639	2	2	400	1	0	0	0	0	0	0	0	1	15489	1538	54	3		3	SYCP2	20	58467639	Silent	SNP	T	TCGA-R8-A6YH-01A-21D-A32B-08	13943915	58467639	4557881	16	33458											
KRTAP13-1	140258	broad.mit.edu	37	21	31768408	31768408	+	Missense_Mutation	SNP	T	T	C			TCGA-R8-A6YH-01A-21D-A32B-08	TCGA-R8-A6YH-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	869ec76d-1e6f-40c1-9bd6-9d26bfd543ad	34cd7573-262b-451f-a866-4540450147b3	g.chr21:31768408T>C	ENST00000355459.2	+	1	17	c.4T>C	c.(4-6)Tcc>Ccc	p.S2P		NM_181599.2	NP_853630.2	Q8IUC0	KR131_HUMAN	keratin associated protein 13-1	2						intermediate filament				endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CATCAACATGTCCTACAACTG	0.522													69	15					0	0	1	0	0	C	31768408	T	C	31768408	3	2	400	1	0	0	0	0	1	0	0	0	8565	1667	58	3	6	3	KRTAP13-1	21	31768408	Missense_Mutation	SNP	T	TCGA-R8-A6YH-01A-21D-A32B-08		31768408	16361487	17	33459											
ATRX	546	broad.mit.edu	37	X	76920179	76920180	+	Frame_Shift_Ins	INS	-	-	C			TCGA-R8-A6YH-01A-21D-A32B-08	TCGA-R8-A6YH-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	869ec76d-1e6f-40c1-9bd6-9d26bfd543ad	34cd7573-262b-451f-a866-4540450147b3	g.chrX:76920179_76920180insC	ENST00000373344.5	-	11	4111_4112	c.3897_3898insG	c.(3895-3900)gggaaafs	p.K1300fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Ins_p.K1262fs	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1300					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)	GTTCTTTTTTTCCCTTCTTCTG	0.371			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						37	7	---	---	---	---						C	76920180	-	C	76920179	7	5	400	1	0	1	1	0	0	0	0	0	1206	1792	62	0	3680	0	ATRX	23	76920179	Frame_Shift_Ins	INS	-	TCGA-R8-A6YH-01A-21D-A32B-08		76920179	78350381	18	33460											
MAGI3	260425	broad.mit.edu	37	1	113933961	113933962	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-R8-A73M-01A-11D-A32B-08	TCGA-R8-A73M-10C-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8644f8a-beac-4a95-8b6a-e4e081917313	a243fe0c-19bb-49b3-8547-48cb29ace8e3	g.chr1:113933961_113933962delTG	ENST00000369615.1	+	1	368_369	c.306_307delTG	c.(304-309)actgtgfs	p.V103fs	MAGI3_ENST00000486456.1_3'UTR|MAGI3_ENST00000307546.9_Frame_Shift_Del_p.V103fs|MAGI3_ENST00000369617.4_Frame_Shift_Del_p.V103fs|MAGI3_ENST00000369611.4_Frame_Shift_Del_p.V103fs	NM_152900.2	NP_690864.2	Q5TCQ9	MAGI3_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 3	103	Interaction with ADRB1 and TGFA (By similarity).|PDZ 1.				apoptosis|interspecies interaction between organisms|intracellular signal transduction	nucleus|tight junction	ATP binding|guanylate kinase activity|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTCTCAAGACTGTGAAACCAGG	0.663													2	4	---	---	---	---						-	113933962	TG	-	113933961	7	5	401	1	0	1	0	1	0	0	0	0	9242	1567	55	0	308	0	MAGI3	1	113933961	Frame_Shift_Del	DEL	TG	TCGA-R8-A73M-01A-11D-A32B-08		113933961	135316660	1	33461											
F5	2153	broad.mit.edu	37	1	169512035	169512035	+	Missense_Mutation	SNP	C	C	T			TCGA-R8-A73M-01A-11D-A32B-08	TCGA-R8-A73M-10C-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8644f8a-beac-4a95-8b6a-e4e081917313	a243fe0c-19bb-49b3-8547-48cb29ace8e3	g.chr1:169512035C>T	ENST00000367796.3	-	13	2509	c.2308G>A	c.(2308-2310)Gtt>Att	p.V770I	F5_ENST00000367797.3_Missense_Mutation_p.V765I			P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	765	B.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	TTTGAAGAAACGAATTCAGTG	0.393													60	94					0	0	1	0	0	T	169512035	C	T	169512035	3	4	401	1	0	0	0	0	1	0	0	0	5376	536	19	1	4433	1	F5	1	169512035	Missense_Mutation	SNP	C	TCGA-R8-A73M-01A-11D-A32B-08	55578074	169512035	79738586	2	33462											
RASAL2	9462	broad.mit.edu	37	1	178421757	178421757	+	Missense_Mutation	SNP	A	A	G			TCGA-R8-A73M-01A-11D-A32B-08	TCGA-R8-A73M-10C-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8644f8a-beac-4a95-8b6a-e4e081917313	a243fe0c-19bb-49b3-8547-48cb29ace8e3	g.chr1:178421757A>G	ENST00000448150.3	+	11	2743	c.1925A>G	c.(1924-1926)aAg>aGg	p.K642R	RASAL2_ENST00000462775.1_Missense_Mutation_p.K512R|RASAL2_ENST00000367649.3_Missense_Mutation_p.K660R	NM_170692.2	NP_733793.2	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2	512					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity			biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						CTTATTGCCAAGGTCATTCAG	0.418													25	57					0	0	1	0	0	G	178421757	A	G	178421757	3	3	401	1	0	0	0	0	1	0	0	0	13116	72	3	3	2038	3	RASAL2	1	178421757	Missense_Mutation	SNP	A	TCGA-R8-A73M-01A-11D-A32B-08	8909722	178421757	70828864	3	33463											
ASTL	431705	broad.mit.edu	37	2	96799705	96799705	+	Splice_Site	SNP	G	G	A	rs148110898		TCGA-R8-A73M-01A-11D-A32B-08	TCGA-R8-A73M-10C-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8644f8a-beac-4a95-8b6a-e4e081917313	a243fe0c-19bb-49b3-8547-48cb29ace8e3	g.chr2:96799705G>A	ENST00000342380.2	-	4	335	c.336C>T	c.(334-336)taC>taT	p.Y112Y		NM_001002036.3	NP_001002036.3	Q6HA08	ASTL_HUMAN	astacin-like metallo-endopeptidase (M12 family)	112					proteolysis		metalloendopeptidase activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(2)	30						CTCACTCACCGTACTTGCTGG	0.582													12	13					0	0	1	0	0	A	96799705	G	A	96799705	5	1	401	1	0	0	0	0	0	0	1	0	1062	1159	40	1	982	1	ASTL	2	96799705	Splice_Site	SNP	G	TCGA-R8-A73M-01A-11D-A32B-08		96799705	146399668	4	33464											
RANBP2	5903	broad.mit.edu	37	2	109370354	109370354	+	Missense_Mutation	SNP	A	A	G			TCGA-R8-A73M-01A-11D-A32B-08	TCGA-R8-A73M-10C-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8644f8a-beac-4a95-8b6a-e4e081917313	a243fe0c-19bb-49b3-8547-48cb29ace8e3	g.chr2:109370354A>G	ENST00000283195.6	+	15	2255	c.2129A>G	c.(2128-2130)tAt>tGt	p.Y710C		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	710					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						TGCAAAAATTATCTGAGAAAG	0.348													76	93					0	0	1	0	0	G	109370354	A	G	109370354	3	3	401	1	0	0	0	0	1	0	0	0	13080	449	16	3	2187	3	RANBP2	2	109370354	Missense_Mutation	SNP	A	TCGA-R8-A73M-01A-11D-A32B-08	12570649	109370354	133829019	5	33465											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-R8-A73M-01A-11D-A32B-08	TCGA-R8-A73M-10C-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8644f8a-beac-4a95-8b6a-e4e081917313	a243fe0c-19bb-49b3-8547-48cb29ace8e3	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	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								18	21					0	0	1	0	0	T	209113112	C	T	209113112	3	4	401	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-R8-A73M-01A-11D-A32B-08	99742758	209113112	34086261	6	33466											
MTMR14	64419	broad.mit.edu	37	3	9695406	9695406	+	Silent	SNP	G	G	A			TCGA-R8-A73M-01A-11D-A32B-08	TCGA-R8-A73M-10C-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8644f8a-beac-4a95-8b6a-e4e081917313	a243fe0c-19bb-49b3-8547-48cb29ace8e3	g.chr3:9695406G>A	ENST00000296003.4	+	2	383	c.261G>A	c.(259-261)cgG>cgA	p.R87R	MTMR14_ENST00000351233.5_Silent_p.R87R|MTMR14_ENST00000420925.1_Intron|MTMR14_ENST00000353332.5_Silent_p.R87R	NM_001077525.2	NP_001070993.1	Q8NCE2	MTMRE_HUMAN	myotubularin related protein 14	87						perinuclear region of cytoplasm|ruffle	phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity			breast(1)|endometrium(3)|kidney(2)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	21	Medulloblastoma(99;0.227)					ACTATCCCCGGCACATCGTGT	0.507													4	98					0	0	1	0	0	A	9695406	G	A	9695406	2	1	401	1	0	0	0	0	0	0	0	1	9990	1190	42	2		2	MTMR14	3	9695406	Silent	SNP	G	TCGA-R8-A73M-01A-11D-A32B-08		9695406	188327024	7	33467											
DNAH1	25981	broad.mit.edu	37	3	52430944	52430944	+	Missense_Mutation	SNP	C	C	T			TCGA-R8-A73M-01A-11D-A32B-08	TCGA-R8-A73M-10C-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8644f8a-beac-4a95-8b6a-e4e081917313	a243fe0c-19bb-49b3-8547-48cb29ace8e3	g.chr3:52430944C>T	ENST00000420323.2	+	73	11932	c.11671C>T	c.(11671-11673)Cgg>Tgg	p.R3891W		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	3956	AAA 6 (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		TGACTGGGACCGGCGCTGCAT	0.607													17	17					0	0	1	0	0	T	52430944	C	T	52430944	3	4	401	1	0	0	0	0	1	0	0	0	4625	643	23	1	11957	1	DNAH1	3	52430944	Missense_Mutation	SNP	C	TCGA-R8-A73M-01A-11D-A32B-08	42735538	52430944	145591486	8	33468											
DRD3	1814	broad.mit.edu	37	3	113847660	113847660	+	Missense_Mutation	SNP	G	G	A			TCGA-R8-A73M-01A-11D-A32B-08	TCGA-R8-A73M-10C-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8644f8a-beac-4a95-8b6a-e4e081917313	a243fe0c-19bb-49b3-8547-48cb29ace8e3	g.chr3:113847660G>A	ENST00000383673.2	-	7	1536	c.1106C>T	c.(1105-1107)aCa>aTa	p.T369I	DRD3_ENST00000467632.1_Missense_Mutation_p.T369I|DRD3_ENST00000460779.1_Missense_Mutation_p.T369I|DRD3_ENST00000295881.7_Missense_Mutation_p.T336I	NM_000796.3	NP_000787.2	P35462	DRD3_HUMAN	dopamine receptor D3	369					activation of adenylate cyclase activity by dopamine receptor signaling pathway|arachidonic acid secretion|behavioral response to cocaine|cellular calcium ion homeostasis|circadian regulation of gene expression|G-protein coupled receptor internalization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|locomotory behavior|musculoskeletal movement, spinal reflex action|negative regulation of blood pressure|negative regulation of oligodendrocyte differentiation|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|positive regulation of dopamine receptor signaling pathway|positive regulation of mitosis|prepulse inhibition|regulation of dopamine secretion|response to drug|response to histamine|response to morphine|social behavior|visual learning	integral to plasma membrane	dopamine D3 receptor activity|drug binding			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)	36					Apomorphine(DB00714)|Chlorprothixene(DB01239)|Cocaine(DB00907)|Methotrimeprazine(DB01403)|Olanzapine(DB00334)|Pramipexole(DB00413)|Ropinirole(DB00268)|Ziprasidone(DB00246)	GCCCAGCCATGTCGTGGCACT	0.542													93	143					0	0	1	0	0	A	113847660	G	A	113847660	3	1	401	1	0	0	0	0	1	0	0	0	4784	1377	48	2	100	2	DRD3	3	113847660	Missense_Mutation	SNP	G	TCGA-R8-A73M-01A-11D-A32B-08	61416716	113847660	84174770	9	33469											
CDYL	9425	broad.mit.edu	37	6	4937890	4937890	+	Missense_Mutation	SNP	G	G	A			TCGA-R8-A73M-01A-11D-A32B-08	TCGA-R8-A73M-10C-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8644f8a-beac-4a95-8b6a-e4e081917313	a243fe0c-19bb-49b3-8547-48cb29ace8e3	g.chr6:4937890G>A	ENST00000328908.5	+	6	1333	c.1202G>A	c.(1201-1203)tGt>tAt	p.C401Y	CDYL_ENST00000449732.2_Missense_Mutation_p.C215Y|CDYL_ENST00000343762.5_Missense_Mutation_p.C215Y|CDYL_ENST00000472453.1_3'UTR|CDYL_ENST00000397588.3_Missense_Mutation_p.C347Y			Q9Y232	CDYL1_HUMAN	chromodomain protein, Y-like	401					regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	histone acetyltransferase activity			breast(2)|kidney(2)|large_intestine(9)|lung(13)|skin(1)|stomach(2)|urinary_tract(1)	30	Ovarian(93;0.11)	all_hematologic(90;0.0901)|Lung NSC(90;0.244)		OV - Ovarian serous cystadenocarcinoma(45;0.182)		GTCTTCTGTTGTGGACTTGAC	0.458													10	58					0	0	1	0	0	A	4937890	G	A	4937890	3	1	401	1	0	0	0	0	1	0	0	0	3207	1377	48	2	1054	2	CDYL	6	4937890	Missense_Mutation	SNP	G	TCGA-R8-A73M-01A-11D-A32B-08		4937890	166177177	10	33470											
TDRD6	221400	broad.mit.edu	37	6	46660172	46660172	+	Missense_Mutation	SNP	A	A	G			TCGA-R8-A73M-01A-11D-A32B-08	TCGA-R8-A73M-10C-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8644f8a-beac-4a95-8b6a-e4e081917313	a243fe0c-19bb-49b3-8547-48cb29ace8e3	g.chr6:46660172A>G	ENST00000544460.1	+	1	4561	c.4307A>G	c.(4306-4308)cAt>cGt	p.H1436R	TDRD6_ENST00000316081.6_Missense_Mutation_p.H1436R	NM_001168359.1	NP_001161831.1	O60522	TDRD6_HUMAN	tudor domain containing 6	1436					cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			AAAATGATGCATTACTTTTCC	0.398													10	171					0	0	1	0	0	G	46660172	A	G	46660172	3	3	401	1	0	0	0	0	1	0	0	0	15793	217	8	3	4309	3	TDRD6	6	46660172	Missense_Mutation	SNP	A	TCGA-R8-A73M-01A-11D-A32B-08	41722282	46660172	124454895	11	33471											
TFAP2D	83741	broad.mit.edu	37	6	50740356	50740356	+	Splice_Site	SNP	A	A	G			TCGA-R8-A73M-01A-11D-A32B-08	TCGA-R8-A73M-10C-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8644f8a-beac-4a95-8b6a-e4e081917313	a243fe0c-19bb-49b3-8547-48cb29ace8e3	g.chr6:50740356A>G	ENST00000008391.3	+	8	1367		c.e8-1			NM_172238.3	NP_758438.2	Q7Z6R9	AP2D_HUMAN	transcription factor AP-2 delta (activating enhancer binding protein 2 delta)								DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1)	60	Lung NSC(77;0.0334)					TCTCATTTCCAGTTTGATCAC	0.378													4	34					0	0	1	0	0	G	50740356	A	G	50740356	5	3	401	1	0	0	0	0	0	0	1	0	15850	202	7	3	1168	3	TFAP2D	6	50740356	Splice_Site	SNP	A	TCGA-R8-A73M-01A-11D-A32B-08	4080184	50740356	120374711	12	33472											
SEMA3A	10371	broad.mit.edu	37	7	83739852	83739852	+	Silent	SNP	C	C	T			TCGA-R8-A73M-01A-11D-A32B-08	TCGA-R8-A73M-10C-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8644f8a-beac-4a95-8b6a-e4e081917313	a243fe0c-19bb-49b3-8547-48cb29ace8e3	g.chr7:83739852C>T	ENST00000265362.4	-	4	701	c.387G>A	c.(385-387)ttG>ttA	p.L129L	SEMA3A_ENST00000436949.1_Silent_p.L129L	NM_006080.2	NP_006071.1	Q14563	SEM3A_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A		Sema.				axon guidance	extracellular region|membrane	receptor activity			breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						CACAGGCGTACAAGTGAGTCT	0.383													13	87					0	0	1	0	0	T	83739852	C	T	83739852	2	4	401	1	0	0	0	0	0	0	0	1	14078	477	17	2		2	SEMA3A	7	83739852	Silent	SNP	C	TCGA-R8-A73M-01A-11D-A32B-08		83739852	75398811	13	33473											
C9orf3	84909	broad.mit.edu	37	9	97843039	97843039	+	Missense_Mutation	SNP	G	G	A			TCGA-R8-A73M-01A-11D-A32B-08	TCGA-R8-A73M-10C-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8644f8a-beac-4a95-8b6a-e4e081917313	a243fe0c-19bb-49b3-8547-48cb29ace8e3	g.chr9:97843039G>A	ENST00000375315.2	+	14	2296	c.2296G>A	c.(2296-2298)Gag>Aag	p.E766K	C9orf3_ENST00000433691.2_Missense_Mutation_p.E107K|C9orf3_ENST00000425634.2_Missense_Mutation_p.E128K|C9orf3_ENST00000297979.5_Missense_Mutation_p.E667K	NM_001193329.1	NP_001180258.1	Q8N6M6	AMPO_HUMAN	chromosome 9 open reading frame 3	766					leukotriene biosynthetic process|proteolysis	cytoplasm	aminopeptidase activity|metallopeptidase activity|zinc ion binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(323;0.000275)		CAAAAGTGTGGAGAGGTTCCT	0.502													12	41					0	0	1	0	0	A	97843039	G	A	97843039	3	1	401	1	0	0	0	0	1	0	0	0	2495	1175	41	2	2045	2	C9orf3	9	97843039	Missense_Mutation	SNP	G	TCGA-R8-A73M-01A-11D-A32B-08		97843039	43370392	14	33474											
FKBP15	23307	broad.mit.edu	37	9	115945062	115945062	+	Missense_Mutation	SNP	T	T	C			TCGA-R8-A73M-01A-11D-A32B-08	TCGA-R8-A73M-10C-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8644f8a-beac-4a95-8b6a-e4e081917313	a243fe0c-19bb-49b3-8547-48cb29ace8e3	g.chr9:115945062T>C	ENST00000238256.3	-	19	2015	c.1898A>G	c.(1897-1899)cAt>cGt	p.H633R		NM_015258.1	NP_056073.1	Q5T1M5	FKB15_HUMAN	FK506 binding protein 15, 133kDa	633					endocytosis|protein folding	axon|early endosome	actin binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(9)|ovary(3)|urinary_tract(1)	26						TTGTTCAGCATGCAATACTCT	0.463													81	119					0	0	1	0	0	C	115945062	T	C	115945062	3	2	401	1	0	0	0	0	1	0	0	0	5938	1464	51	3	1801	3	FKBP15	9	115945062	Missense_Mutation	SNP	T	TCGA-R8-A73M-01A-11D-A32B-08	18102023	115945062	25268369	15	33475											
TNC	3371	broad.mit.edu	37	9	117786329	117786329	+	Missense_Mutation	SNP	A	A	G			TCGA-R8-A73M-01A-11D-A32B-08	TCGA-R8-A73M-10C-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8644f8a-beac-4a95-8b6a-e4e081917313	a243fe0c-19bb-49b3-8547-48cb29ace8e3	g.chr9:117786329A>G	ENST00000350763.4	-	27	6829	c.6418T>C	c.(6418-6420)Tac>Cac	p.Y2140H	TNC_ENST00000423613.2_Missense_Mutation_p.Y1867H|TNC_ENST00000535648.1_Missense_Mutation_p.Y1685H|TNC_ENST00000537320.1_Missense_Mutation_p.Y1503H|TNC_ENST00000345230.3_Missense_Mutation_p.Y1503H|TNC_ENST00000341037.4_Missense_Mutation_p.Y1958H|TNC_ENST00000346706.3_Missense_Mutation_p.Y1594H|TNC_ENST00000340094.3_Missense_Mutation_p.Y1776H|TNC_ENST00000542877.1_Missense_Mutation_p.Y1777H	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	2140	Fibrinogen C-terminal.			YKGA -> TRG (in Ref. 2; CAA39628).	cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						GCCCCTTTGTAGGACAGAGCA	0.537													3	75					0	0	1	0	0	G	117786329	A	G	117786329	3	3	401	1	0	0	0	0	1	0	0	0	16330	420	15	3	195	3	TNC	9	117786329	Missense_Mutation	SNP	A	TCGA-R8-A73M-01A-11D-A32B-08	1841267	117786329	23427102	16	33476											
MUC2	4583	broad.mit.edu	37	11	1093740	1093740	+	Silent	SNP	G	G	C			TCGA-R8-A73M-01A-11D-A32B-08	TCGA-R8-A73M-10C-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8644f8a-beac-4a95-8b6a-e4e081917313	a243fe0c-19bb-49b3-8547-48cb29ace8e3	g.chr11:1093740G>C	ENST00000441003.2	+	30	5586	c.5559G>C	c.(5557-5559)ccG>ccC	p.P1853P	MUC2_ENST00000361558.6_Intron|MUC2_ENST00000333592.6_Silent_p.P141P	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	1856						inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	CCAATCCTCCGCCTGAGTCCT	0.602													58	121					0	0	1	0	0	C	1093740	G	C	1093740	2	2	401	1	0	0	0	0	0	0	0	1	10023	1074	38	5		5	MUC2	11	1093740	Silent	SNP	G	TCGA-R8-A73M-01A-11D-A32B-08		1093740	133912776	17	33477											
ABCC8	6833	broad.mit.edu	37	11	17429999	17429999	+	Missense_Mutation	SNP	T	T	A			TCGA-R8-A73M-01A-11D-A32B-08	TCGA-R8-A73M-10C-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8644f8a-beac-4a95-8b6a-e4e081917313	a243fe0c-19bb-49b3-8547-48cb29ace8e3	g.chr11:17429999T>A	ENST00000302539.4	-	23	2888	c.2763A>T	c.(2761-2763)gaA>gaT	p.E921D	ABCC8_ENST00000389817.3_Missense_Mutation_p.E920D	NM_000352.3	NP_000343.2	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	920	ABC transporter 1.				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	AGAGCTGGCATTCAGACCTCT	0.557													15	43					0	0	1	0	0	A	17429999	T	A	17429999	3	1	401	1	0	0	0	0	1	0	0	0	58	1490	52	4	2053	4	ABCC8	11	17429999	Missense_Mutation	SNP	T	TCGA-R8-A73M-01A-11D-A32B-08	16336259	17429999	117576517	18	33478											
MAP3K12	7786	broad.mit.edu	37	12	53880246	53880246	+	Missense_Mutation	SNP	C	C	G			TCGA-R8-A73M-01A-11D-A32B-08	TCGA-R8-A73M-10C-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8644f8a-beac-4a95-8b6a-e4e081917313	a243fe0c-19bb-49b3-8547-48cb29ace8e3	g.chr12:53880246C>G	ENST00000267079.2	-	4	732	c.507G>C	c.(505-507)aaG>aaC	p.K169N	MAP3K12_ENST00000547035.1_Missense_Mutation_p.K202N|MAP3K12_ENST00000547488.1_Missense_Mutation_p.K202N|MAP3K12_ENST00000547151.1_5'UTR	NM_001193511.1|NM_006301.3	NP_001180440.1|NP_006292.3	Q12852	M3K12_HUMAN	mitogen-activated protein kinase kinase kinase 12	169	Protein kinase.				histone phosphorylation|JNK cascade|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation	cytosol|membrane fraction|plasma membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding			NS(2)|breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	37						TGTTGGGGTGCTTCAGCTTTC	0.582													12	41					0	0	1	0	0	G	53880246	C	G	53880246	3	3	401	1	0	0	0	0	1	0	0	0	9296	796	28	4	2120	4	MAP3K12	12	53880246	Missense_Mutation	SNP	C	TCGA-R8-A73M-01A-11D-A32B-08		53880246	79971649	19	33479											
OAS3	4940	broad.mit.edu	37	12	113400550	113400550	+	Missense_Mutation	SNP	G	G	A			TCGA-R8-A73M-01A-11D-A32B-08	TCGA-R8-A73M-10C-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8644f8a-beac-4a95-8b6a-e4e081917313	a243fe0c-19bb-49b3-8547-48cb29ace8e3	g.chr12:113400550G>A	ENST00000228928.7	+	9	2106	c.1927G>A	c.(1927-1929)Ggc>Agc	p.G643S	RP1-71H24.1_ENST00000552784.1_RNA	NM_006187.2	NP_006178.2	Q9Y6K5	OAS3_HUMAN	2'-5'-oligoadenylate synthetase 3, 100kDa	643	OAS domain 2.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	microsome	ATP binding|nucleotidyltransferase activity|RNA binding			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2)	27						CTGGGAGCAGGGCTGCAGGCA	0.597													15	98					0	0	1	0	0	A	113400550	G	A	113400550	3	1	401	1	0	0	0	0	1	0	0	0	10849	1232	43	2	1961	2	OAS3	12	113400550	Missense_Mutation	SNP	G	TCGA-R8-A73M-01A-11D-A32B-08	59520304	113400550	20451345	20	33480											
CDK8	1024	broad.mit.edu	37	13	26967554	26967554	+	Missense_Mutation	SNP	A	A	G			TCGA-R8-A73M-01A-11D-A32B-08	TCGA-R8-A73M-10C-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8644f8a-beac-4a95-8b6a-e4e081917313	a243fe0c-19bb-49b3-8547-48cb29ace8e3	g.chr13:26967554A>G	ENST00000381527.3	+	7	1200	c.697A>G	c.(697-699)Ata>Gta	p.I233V	CDK8_ENST00000536792.1_3'UTR	NM_001260.1	NP_001251.1	P49336	CDK8_HUMAN	cyclin-dependent kinase 8	233	Protein kinase.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mediator complex	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	25	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0384)|Epithelial(112;0.142)|OV - Ovarian serous cystadenocarcinoma(117;0.188)		GTCAGAACCAATATTTCACTG	0.343													7	138					0	0	1	0	0	G	26967554	A	G	26967554	3	3	401	1	0	0	0	0	1	0	0	0	3172	101	4	3	723	3	CDK8	13	26967554	Missense_Mutation	SNP	A	TCGA-R8-A73M-01A-11D-A32B-08		26967554	88202324	21	33481											
POSTN	10631	broad.mit.edu	37	13	38143490	38143490	+	Missense_Mutation	SNP	C	C	A			TCGA-R8-A73M-01A-11D-A32B-08	TCGA-R8-A73M-10C-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8644f8a-beac-4a95-8b6a-e4e081917313	a243fe0c-19bb-49b3-8547-48cb29ace8e3	g.chr13:38143490C>A	ENST00000379747.4	-	21	2495	c.2378G>T	c.(2377-2379)gGt>gTt	p.G793V	POSTN_ENST00000541179.1_Intron|POSTN_ENST00000379749.4_Intron|POSTN_ENST00000541481.1_Missense_Mutation_p.G706V|POSTN_ENST00000379743.4_Missense_Mutation_p.G766V|POSTN_ENST00000379742.4_Missense_Mutation_p.G736V|POSTN_ENST00000497145.1_5'UTR	NM_006475.2	NP_006466.2	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor	793					cell adhesion|skeletal system development	proteinaceous extracellular matrix	heparin binding	p.G793D(1)		cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		ACCATCACCACCTTCAATGAA	0.363													22	47					0.000295444	0.000295444	1	1	0	A	38143490	C	A	38143490	3	1	401	1	0	0	0	0	1	0	0	0	12307	507	18	5	144	5	POSTN	13	38143490	Missense_Mutation	SNP	C	TCGA-R8-A73M-01A-11D-A32B-08	11175936	38143490	77026388	22	33482											
OR4E2	26686	broad.mit.edu	37	14	22134124	22134124	+	Frame_Shift_Del	DEL	A	A	-			TCGA-R8-A73M-01A-11D-A32B-08	TCGA-R8-A73M-10C-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8644f8a-beac-4a95-8b6a-e4e081917313	a243fe0c-19bb-49b3-8547-48cb29ace8e3	g.chr14:22134124delA	ENST00000408935.1	+	1	828	c.828delA	c.(826-828)acafs	p.T276fs		NM_001001912.1	NP_001001912.1	Q8NGC2	OR4E2_HUMAN	olfactory receptor, family 4, subfamily E, member 2	276					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	15	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0137)		TCTTCTACACAGTGGTCACCC	0.473													17	23	---	---	---	---						-	22134124	A	-	22134124	7	5	401	1	0	1	0	1	0	0	0	0	11108	175	7	0	830	0	OR4E2	14	22134124	Frame_Shift_Del	DEL	A	TCGA-R8-A73M-01A-11D-A32B-08		22134124	85215416	23	33483											
MEFV	4210	broad.mit.edu	37	16	3293588	3293588	+	Silent	SNP	C	C	T			TCGA-R8-A73M-01A-11D-A32B-08	TCGA-R8-A73M-10C-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8644f8a-beac-4a95-8b6a-e4e081917313	a243fe0c-19bb-49b3-8547-48cb29ace8e3	g.chr16:3293588C>T	ENST00000219596.1	-	10	1938	c.1899G>A	c.(1897-1899)ccG>ccA	p.P633P	MEFV_ENST00000541159.1_3'UTR|MEFV_ENST00000339854.4_Silent_p.P453P|MEFV_ENST00000536379.1_Silent_p.P422P	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	633	B30.2/SPRY.				inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding			NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50					Colchicine(DB01394)	CAAATCTTTGCGGGCCATCAG	0.517													4	240					0	0	1	0	0	T	3293588	C	T	3293588	2	4	401	1	0	0	0	0	0	0	0	1	9509	755	27	1		1	MEFV	16	3293588	Silent	SNP	C	TCGA-R8-A73M-01A-11D-A32B-08		3293588	87061165	24	33484											
USP7	7874	broad.mit.edu	37	16	9014244	9014244	+	Missense_Mutation	SNP	C	C	G			TCGA-R8-A73M-01A-11D-A32B-08	TCGA-R8-A73M-10C-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8644f8a-beac-4a95-8b6a-e4e081917313	a243fe0c-19bb-49b3-8547-48cb29ace8e3	g.chr16:9014244C>G	ENST00000344836.4	-	5	781	c.583G>C	c.(583-585)Gta>Cta	p.V195L	USP7_ENST00000535863.1_Missense_Mutation_p.V96L|USP7_ENST00000381886.4_Missense_Mutation_p.V179L	NM_003470.2	NP_003461.2	Q93009	UBP7_HUMAN	ubiquitin specific peptidase 7 (herpes virus-associated)	195	Interaction with TSPYL5.|Interaction with p53/TP53, MDM2 and EBNA1.|MATH.|Necessary for nuclear localization.				interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process	cytoplasm|PML body	cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	48						TCCGCCTGTACAAAGACTTCA	0.378													25	38					0	0	1	0	0	G	9014244	C	G	9014244	3	3	401	1	0	0	0	0	1	0	0	0	17148	478	17	5	2833	5	USP7	16	9014244	Missense_Mutation	SNP	C	TCGA-R8-A73M-01A-11D-A32B-08	5720656	9014244	81340509	25	33485											
GSG2	83903	broad.mit.edu	37	17	3628342	3628342	+	Missense_Mutation	SNP	C	C	A			TCGA-R8-A73M-01A-11D-A32B-08	TCGA-R8-A73M-10C-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8644f8a-beac-4a95-8b6a-e4e081917313	a243fe0c-19bb-49b3-8547-48cb29ace8e3	g.chr17:3628342C>A	ENST00000325418.4	+	1	1132	c.1113C>A	c.(1111-1113)gaC>gaA	p.D371E	ITGAE_ENST00000263087.4_Intron|ITGAE_ENST00000571185.1_Intron	NM_031965.2	NP_114171.2	Q8TF76	HASP_HUMAN	germ cell associated 2 (haspin)	371					cell cycle|chromatin modification|intracellular protein kinase cascade	nucleus	ATP binding|protein serine/threonine kinase activity										CCACCCAGGACCTGACTCCTT	0.488													18	30					2.4624e-09	2.565e-09	1	1	0	A	3628342	C	A	3628342	3	1	401	1	0	0	0	0	1	0	0	0	6863	506	18	5	1115	5	GSG2	17	3628342	Missense_Mutation	SNP	C	TCGA-R8-A73M-01A-11D-A32B-08		3628342	77566868	26	33486											
CD68	968	broad.mit.edu	37	17	7484227	7484227	+	Silent	SNP	G	G	A	rs149306377		TCGA-R8-A73M-01A-11D-A32B-08	TCGA-R8-A73M-10C-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8644f8a-beac-4a95-8b6a-e4e081917313	a243fe0c-19bb-49b3-8547-48cb29ace8e3	g.chr17:7484227G>A	ENST00000250092.6	+	5	985	c.774G>A	c.(772-774)tcG>tcA	p.S258S	CD68_ENST00000380498.6_Silent_p.S231S	NM_001251.2	NP_001242.2	P34810	CD68_HUMAN	CD68 molecule	258						endosome membrane|integral to membrane|lysosomal membrane|membrane fraction|plasma membrane				endometrium(1)|lung(1)|skin(1)	3						GGACATTCTCGGCTCAGAATG	0.562													9	43					0	0	1	0	0	A	7484227	G	A	7484227	2	1	401	1	0	0	0	0	0	0	0	1	3052	1103	39	1		1	CD68	17	7484227	Silent	SNP	G	TCGA-R8-A73M-01A-11D-A32B-08	3855885	7484227	73710983	27	33487											
INSR	3643	broad.mit.edu	37	19	7132266	7132266	+	Silent	SNP	C	C	A			TCGA-R8-A73M-01A-11D-A32B-08	TCGA-R8-A73M-10C-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8644f8a-beac-4a95-8b6a-e4e081917313	a243fe0c-19bb-49b3-8547-48cb29ace8e3	g.chr19:7132266C>A	ENST00000341500.5	-	13	2748	c.2709G>T	c.(2707-2709)ggG>ggT	p.G903G	INSR_ENST00000302850.5_Silent_p.G915G	NM_001079817.1	NP_001073285.1	P06213	INSR_HUMAN	insulin receptor	915	Fibronectin type-III 3.				activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus	caveola|endosome membrane|insulin receptor complex|microsome	ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding			breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CCGGTGACAGCCCACGCAGCC	0.617													13	18					4.3838e-07	4.47327e-07	1	1	0	A	7132266	C	A	7132266	2	1	401	1	0	0	0	0	0	0	0	1	7817	726	26	5		5	INSR	19	7132266	Silent	SNP	C	TCGA-R8-A73M-01A-11D-A32B-08		7132266	51996717	28	33488											
CIC	23152	broad.mit.edu	37	19	42791836	42791836	+	Missense_Mutation	SNP	T	T	C			TCGA-R8-A73M-01A-11D-A32B-08	TCGA-R8-A73M-10C-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8644f8a-beac-4a95-8b6a-e4e081917313	a243fe0c-19bb-49b3-8547-48cb29ace8e3	g.chr19:42791836T>C	ENST00000572681.2	+	6	3517	c.3449T>C	c.(3448-3450)cTg>cCg	p.L1150P	CIC_ENST00000160740.3_Missense_Mutation_p.L241P|CIC_ENST00000575354.2_Missense_Mutation_p.L241P			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	241	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				TGGTATGCCCTGGGGCCCAAG	0.612			"Mis, F, S"		oligodendroglioma								15	7					0	0	1	0	0	C	42791836	T	C	42791836	3	2	401	1	0	0	0	0	1	0	0	0	3446	1580	55	3	740	3	CIC	19	42791836	Missense_Mutation	SNP	T	TCGA-R8-A73M-01A-11D-A32B-08	35659570	42791836	16337147	29	33489											
CHD6	84181	broad.mit.edu	37	20	40102094	40102094	+	Silent	SNP	C	C	G			TCGA-R8-A73M-01A-11D-A32B-08	TCGA-R8-A73M-10C-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8644f8a-beac-4a95-8b6a-e4e081917313	a243fe0c-19bb-49b3-8547-48cb29ace8e3	g.chr20:40102094C>G	ENST00000373233.3	-	17	2709	c.2532G>C	c.(2530-2532)cgG>cgC	p.R844R	CHD6_ENST00000309279.7_Intron	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	844	Helicase C-terminal.				chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				GCTTACAGAACCGGTCGATGG	0.537													4	46					0	0	1	0	0	G	40102094	C	G	40102094	2	3	401	1	0	0	0	0	0	0	0	1	3351	494	18	5		5	CHD6	20	40102094	Silent	SNP	C	TCGA-R8-A73M-01A-11D-A32B-08		40102094	22923426	30	33490											
CACNA1F	778	broad.mit.edu	37	X	49071867	49071867	+	Missense_Mutation	SNP	C	C	T			TCGA-R8-A73M-01A-11D-A32B-08	TCGA-R8-A73M-10C-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8644f8a-beac-4a95-8b6a-e4e081917313	a243fe0c-19bb-49b3-8547-48cb29ace8e3	g.chrX:49071867C>T	ENST00000376265.2	-	28	3467	c.3406G>A	c.(3406-3408)Gtc>Atc	p.V1136I	CACNA1F_ENST00000376251.1_Missense_Mutation_p.V1071I|CACNA1F_ENST00000323022.5_Missense_Mutation_p.V1125I	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	1136	Dihydropyridine binding (By similarity).				axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Verapamil(DB00661)	GTGATGATGACGAAGCCCACG	0.502													7	16					0	0	1	0	0	T	49071867	C	T	49071867	3	4	401	1	0	0	0	0	1	0	0	0	2561	536	19	1	2611	1	CACNA1F	23	49071867	Missense_Mutation	SNP	C	TCGA-R8-A73M-01A-11D-A32B-08		49071867	106198693	31	33491											
PAGE1	8712	broad.mit.edu	37	X	49459349	49459349	+	Missense_Mutation	SNP	A	A	T			TCGA-R8-A73M-01A-11D-A32B-08	TCGA-R8-A73M-10C-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8644f8a-beac-4a95-8b6a-e4e081917313	a243fe0c-19bb-49b3-8547-48cb29ace8e3	g.chrX:49459349A>T	ENST00000376150.3	-	2	157	c.25T>A	c.(25-27)Tat>Aat	p.Y9N		NM_003785.3	NP_003776.2	O75459	GAGB1_HUMAN	P antigen family, member 1 (prostate associated)	9					cellular defense response					endometrium(1)|large_intestine(2)|lung(2)|skin(1)|urinary_tract(1)	7	Ovarian(276;0.236)					CTACGCCGATAGATTAATCTT	0.373													16	15					0	0	1	0	0	T	49459349	A	T	49459349	3	4	401	1	0	0	0	0	1	0	0	0	11436	420	15	5	435	5	PAGE1	23	49459349	Missense_Mutation	SNP	A	TCGA-R8-A73M-01A-11D-A32B-08	387482	49459349	105811211	32	33492											
PCDH19	57526	broad.mit.edu	37	X	99662867	99662867	+	Silent	SNP	G	G	A			TCGA-R8-A73M-01A-11D-A32B-08	TCGA-R8-A73M-10C-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8644f8a-beac-4a95-8b6a-e4e081917313	a243fe0c-19bb-49b3-8547-48cb29ace8e3	g.chrX:99662867G>A	ENST00000373034.4	-	1	2404	c.729C>T	c.(727-729)taC>taT	p.Y243Y	PCDH19_ENST00000255531.7_Silent_p.Y243Y|PCDH19_ENST00000420881.2_Silent_p.Y243Y	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	243	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						CGCTCACCGCGTAGGTGGACT	0.627													19	94					0	0	1	0	0	A	99662867	G	A	99662867	2	1	401	1	0	0	0	0	0	0	0	1	11561	1140	40	1		1	PCDH19	23	99662867	Silent	SNP	G	TCGA-R8-A73M-01A-11D-A32B-08	50203518	99662867	55607693	33	33493											
THOC2	57187	broad.mit.edu	37	X	122757971	122757971	+	Silent	SNP	A	A	G			TCGA-R8-A73M-01A-11D-A32B-08	TCGA-R8-A73M-10C-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8644f8a-beac-4a95-8b6a-e4e081917313	a243fe0c-19bb-49b3-8547-48cb29ace8e3	g.chrX:122757971A>G	ENST00000245838.8	-	27	3289	c.3258T>C	c.(3256-3258)gaT>gaC	p.D1086D	THOC2_ENST00000355725.4_Silent_p.D1086D|THOC2_ENST00000491737.1_Silent_p.D971D	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2	1086					intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding			breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						AGTCTAATTGATCAGCCTTAT	0.323													33	31					0	0	1	0	0	G	122757971	A	G	122757971	2	3	401	1	0	0	0	0	0	0	0	1	15925	330	12	3		3	THOC2	23	122757971	Silent	SNP	A	TCGA-R8-A73M-01A-11D-A32B-08	23095104	122757971	32512589	34	33494											
ELF4	2000	broad.mit.edu	37	X	129201056	129201056	+	Frame_Shift_Del	DEL	G	G	-			TCGA-R8-A73M-01A-11D-A32B-08	TCGA-R8-A73M-10C-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8644f8a-beac-4a95-8b6a-e4e081917313	a243fe0c-19bb-49b3-8547-48cb29ace8e3	g.chrX:129201056delG	ENST00000308167.5	-	9	2011	c.1632delC	c.(1630-1632)tccfs	p.S545fs	ELF4_ENST00000335997.7_Frame_Shift_Del_p.S545fs	NM_001421.3	NP_001412.1	Q99607	ELF4_HUMAN	E74-like factor 4 (ets domain transcription factor)	545					natural killer cell proliferation|NK T cell proliferation|positive regulation of transcription from RNA polymerase II promoter	PML body	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	22						GAACATAGGAGGAGGACCTCA	0.617			T	ERG	AML								7	91	---	---	---	---						-	129201056	G	-	129201056	7	5	401	1	0	1	0	1	0	0	0	0	5084	987	35	0	363	0	ELF4	23	129201056	Frame_Shift_Del	DEL	G	TCGA-R8-A73M-01A-11D-A32B-08	6443085	129201056	26069504	35	33495											
GPR119	139760	broad.mit.edu	37	X	129519123	129519123	+	Missense_Mutation	SNP	G	G	T			TCGA-R8-A73M-01A-11D-A32B-08	TCGA-R8-A73M-10C-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8644f8a-beac-4a95-8b6a-e4e081917313	a243fe0c-19bb-49b3-8547-48cb29ace8e3	g.chrX:129519123G>T	ENST00000276218.2	-	1	388	c.299C>A	c.(298-300)aCc>aAc	p.T100N		NM_178471.2	NP_848566.1	Q8TDV5	GP119_HUMAN	G protein-coupled receptor 119	100						integral to membrane|plasma membrane	lipid binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(3)|prostate(1)	11						CCTGTCAAAGGTGATCAGCAT	0.587													101	122					1.79411e-48	1.90862e-48	1	1	0	T	129519123	G	T	129519123	3	4	401	1	0	0	0	0	1	0	0	0	6674	1261	44	5	712	5	GPR119	23	129519123	Missense_Mutation	SNP	G	TCGA-R8-A73M-01A-11D-A32B-08	318067	129519123	25751437	36	33496											
GPR112	139378	broad.mit.edu	37	X	135431378	135431378	+	Missense_Mutation	SNP	A	A	T			TCGA-R8-A73M-01A-11D-A32B-08	TCGA-R8-A73M-10C-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8644f8a-beac-4a95-8b6a-e4e081917313	a243fe0c-19bb-49b3-8547-48cb29ace8e3	g.chrX:135431378A>T	ENST00000394143.1	+	6	5804	c.5513A>T	c.(5512-5514)tAt>tTt	p.Y1838F	GPR112_ENST00000412101.1_Missense_Mutation_p.Y1633F|GPR112_ENST00000287534.4_Missense_Mutation_p.Y1775F|GPR112_ENST00000370652.1_Missense_Mutation_p.Y1838F|GPR112_ENST00000394141.1_Missense_Mutation_p.Y1633F	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1838					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					TCATTTGTTTATTCACCTCAT	0.438													14	103					0	0	1	0	0	T	135431378	A	T	135431378	3	4	401	1	0	0	0	0	1	0	0	0	6669	449	16	4	5523	4	GPR112	23	135431378	Missense_Mutation	SNP	A	TCGA-R8-A73M-01A-11D-A32B-08	5912255	135431378	19839182	37	33497											
ADAR	103	broad.mit.edu	37	1	154574120	154574120	+	Missense_Mutation	SNP	A	A	C			TCGA-RY-A83X-01A-11D-A36O-08	TCGA-RY-A83X-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae5ee5e5-80f2-44c6-b33d-35ef309c9ba3	519730cf-646f-4305-bb34-d96cf0de58d9	g.chr1:154574120A>C	ENST00000368474.4	-	2	1197	c.998T>G	c.(997-999)gTg>gGg	p.V333G	ADAR_ENST00000368471.3_Missense_Mutation_p.V38G|ADAR_ENST00000292205.5_Missense_Mutation_p.V376G	NM_001111.4|NM_015840.3|NM_015841.3	NP_001102|NP_056655.2|NP_056656.2	P55265	DSRAD_HUMAN	adenosine deaminase, RNA-specific	333					adenosine to inosine editing|gene silencing by RNA|mRNA modification|mRNA processing|type I interferon-mediated signaling pathway	cytoplasm|nucleolus|nucleoplasm	DNA binding|double-stranded RNA adenosine deaminase activity|metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)		GTCAATTAGCACAGCATTTAT	0.453													39	66					0	0	1	0	0	C	154574120	A	C	154574120	3	2	402	1	0	0	0	0	1	0	0	0	280	159	6	5	2738	5	ADAR	1	154574120	Missense_Mutation	SNP	A	TCGA-RY-A83X-01A-11D-A36O-08		154574120	94676501	1	33498											
ZNF638	27332	broad.mit.edu	37	2	71658501	71658501	+	Missense_Mutation	SNP	C	C	T			TCGA-RY-A83X-01A-11D-A36O-08	TCGA-RY-A83X-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae5ee5e5-80f2-44c6-b33d-35ef309c9ba3	519730cf-646f-4305-bb34-d96cf0de58d9	g.chr2:71658501C>T	ENST00000409544.1	+	26	6325	c.5695C>T	c.(5695-5697)Cgc>Tgc	p.R1899C	ZNF638_ENST00000264447.4_Missense_Mutation_p.R1899C|ZNF638_ENST00000409407.1_Missense_Mutation_p.R839C|ZNF638_ENST00000355812.3_3'UTR	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638	1899					RNA splicing	cytoplasm|nuclear speck	double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						AGAGCGAAAACGCAAGAAGAC	0.353													40	57					0	0	1	0	0	T	71658501	C	T	71658501	3	4	402	1	0	0	0	0	1	0	0	0	18112	536	19	1	5793	1	ZNF638	2	71658501	Missense_Mutation	SNP	C	TCGA-RY-A83X-01A-11D-A36O-08		71658501	171540872	2	33499											
CCDC150	284992	broad.mit.edu	37	2	197541384	197541384	+	Nonsense_Mutation	SNP	C	C	T			TCGA-RY-A83X-01A-11D-A36O-08	TCGA-RY-A83X-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae5ee5e5-80f2-44c6-b33d-35ef309c9ba3	519730cf-646f-4305-bb34-d96cf0de58d9	g.chr2:197541384C>T	ENST00000389175.4	+	12	1504	c.1369C>T	c.(1369-1371)Cga>Tga	p.R457*	CCDC150_ENST00000472405.2_3'UTR|CCDC150_ENST00000423093.2_Nonsense_Mutation_p.R125*|CCDC150_ENST00000272831.7_Nonsense_Mutation_p.R125*	NM_001080539.1	NP_001074008.1	Q8NCX0	CC150_HUMAN	coiled-coil domain containing 150	457										breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(14)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	33						TGCAAGATTGCGAGGTGAATT	0.403													23	47					0	0	1	0	0	T	197541384	C	T	197541384	4	4	402	1	0	0	0	0	0	1	0	0	2803	760	27	1	1415	1	CCDC150	2	197541384	Nonsense_Mutation	SNP	C	TCGA-RY-A83X-01A-11D-A36O-08	125882883	197541384	45657989	3	33500											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-RY-A83X-01A-11D-A36O-08	TCGA-RY-A83X-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae5ee5e5-80f2-44c6-b33d-35ef309c9ba3	519730cf-646f-4305-bb34-d96cf0de58d9	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								34	60					0	0	1	0	0	T	209113112	C	T	209113112	3	4	402	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-RY-A83X-01A-11D-A36O-08	11571728	209113112	34086261	4	33501											
ARMC9	80210	broad.mit.edu	37	2	232141451	232141451	+	Silent	SNP	G	G	T	rs141707678	by1000genomes	TCGA-RY-A83X-01A-11D-A36O-08	TCGA-RY-A83X-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae5ee5e5-80f2-44c6-b33d-35ef309c9ba3	519730cf-646f-4305-bb34-d96cf0de58d9	g.chr2:232141451G>T	ENST00000349938.4	+	15	1631	c.1437G>T	c.(1435-1437)tcG>tcT	p.S479S	ARMC9_ENST00000483477.1_3'UTR	NM_001271466.1|NM_025139.4	NP_001258395.1|NP_079415	Q7Z3E5	ARMC9_HUMAN	armadillo repeat containing 9	479							binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		Renal(207;0.0112)|all_lung(227;0.0744)|all_hematologic(139;0.0749)|Acute lymphoblastic leukemia(138;0.167)|Medulloblastoma(418;0.184)|Lung NSC(271;0.205)		Epithelial(121;1.43e-10)|LUSC - Lung squamous cell carcinoma(224;0.017)|Lung(119;0.0189)		TGGAGTACTCGGTGGCTTTGC	0.562													38	94					2.51541e-25	2.7089e-25	1	1	0	T	232141451	G	T	232141451	2	4	402	1	0	0	0	0	0	0	0	1	957	1103	39	5		5	ARMC9	2	232141451	Silent	SNP	G	TCGA-RY-A83X-01A-11D-A36O-08	23028339	232141451	11057922	5	33502											
MAML3	55534	broad.mit.edu	37	4	140811108	140811108	+	Silent	SNP	C	C	T			TCGA-RY-A83X-01A-11D-A36O-08	TCGA-RY-A83X-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae5ee5e5-80f2-44c6-b33d-35ef309c9ba3	519730cf-646f-4305-bb34-d96cf0de58d9	g.chr4:140811108C>T	ENST00000509479.2	-	2	2338	c.1482G>A	c.(1480-1482)caG>caA	p.Q494Q	MAML3_ENST00000327122.5_Silent_p.Q338Q|MAML3_ENST00000398940.1_Silent_p.Q33Q	NM_018717.4	NP_061187	Q96JK9	MAML3_HUMAN	mastermind-like 3 (Drosophila)	494	Gln-rich.				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity			breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					gctgctgctgctgctgctgct	0.537													4	47					0	0	1	0	0	T	140811108	C	T	140811108	2	4	402	1	0	0	0	0	0	0	0	1	9257	796	28	2		2	MAML3	4	140811108	Silent	SNP	C	TCGA-RY-A83X-01A-11D-A36O-08		140811108	50343168	6	33503											
IGF2BP3	10643	broad.mit.edu	37	7	23381773	23381773	+	Silent	SNP	G	G	A			TCGA-RY-A83X-01A-11D-A36O-08	TCGA-RY-A83X-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae5ee5e5-80f2-44c6-b33d-35ef309c9ba3	519730cf-646f-4305-bb34-d96cf0de58d9	g.chr7:23381773G>A	ENST00000258729.3	-	10	1469	c.1113C>T	c.(1111-1113)aaC>aaT	p.N371N		NM_006547.2	NP_006538.2	O00425	IF2B3_HUMAN	insulin-like growth factor 2 mRNA binding protein 3	371					anatomical structure morphogenesis|negative regulation of translation|translation	cytosol|nucleus	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(2)|prostate(2)|skin(4)|stomach(1)	34						GACCCAAGGCGTTCAGATTTA	0.468													19	33					0	0	1	0	0	A	23381773	G	A	23381773	2	1	402	1	0	0	0	0	0	0	0	1	7619	1136	40	1		1	IGF2BP3	7	23381773	Silent	SNP	G	TCGA-RY-A83X-01A-11D-A36O-08		23381773	135756890	7	33504											
AGFG2	3268	broad.mit.edu	37	7	100161493	100161493	+	Missense_Mutation	SNP	T	T	C			TCGA-RY-A83X-01A-11D-A36O-08	TCGA-RY-A83X-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae5ee5e5-80f2-44c6-b33d-35ef309c9ba3	519730cf-646f-4305-bb34-d96cf0de58d9	g.chr7:100161493T>C	ENST00000300176.4	+	10	1330	c.1208T>C	c.(1207-1209)tTc>tCc	p.F403S	AGFG2_ENST00000262935.4_3'UTR|AGFG2_ENST00000474713.1_Intron	NM_006076.4	NP_006067.3	O95081	AGFG2_HUMAN	ArfGAP with FG repeats 2	403	Pro-rich.				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	p.F403fs*30(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GGGCCTGGCTTCCCCCAGGCA	0.617											OREG0018204	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	40	54					0	0	1	0	0	C	100161493	T	C	100161493	3	2	402	1	0	0	0	0	1	0	0	0	378	1783	62	3	1246	3	AGFG2	7	100161493	Missense_Mutation	SNP	T	TCGA-RY-A83X-01A-11D-A36O-08	76779720	100161493	58977170	8	33505											
PKHD1L1	93035	broad.mit.edu	37	8	110530475	110530475	+	Silent	SNP	G	G	A			TCGA-RY-A83X-01A-11D-A36O-08	TCGA-RY-A83X-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae5ee5e5-80f2-44c6-b33d-35ef309c9ba3	519730cf-646f-4305-bb34-d96cf0de58d9	g.chr8:110530475G>A	ENST00000378402.5	+	73	11873	c.11769G>A	c.(11767-11769)ttG>ttA	p.L3923L		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	3923					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TTTATCTTTTGGTTAAAGGAA	0.378										HNSCC(38;0.096)			20	46					0	0	1	0	0	A	110530475	G	A	110530475	2	1	402	1	0	0	0	0	0	0	0	1	12020	1339	47	2		2	PKHD1L1	8	110530475	Silent	SNP	G	TCGA-RY-A83X-01A-11D-A36O-08		110530475	35833547	9	33506											
OR13D1	286365	broad.mit.edu	37	9	107456886	107456886	+	Missense_Mutation	SNP	C	C	G			TCGA-RY-A83X-01A-11D-A36O-08	TCGA-RY-A83X-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae5ee5e5-80f2-44c6-b33d-35ef309c9ba3	519730cf-646f-4305-bb34-d96cf0de58d9	g.chr9:107456886C>G	ENST00000318763.5	+	1	227	c.184C>G	c.(184-186)Ctc>Gtc	p.L62V		NM_001004484.1	NP_001004484.1	Q8NGV5	O13D1_HUMAN	olfactory receptor, family 13, subfamily D, member 1	62					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(4)|lung(10)|ovary(1)|prostate(2)|skin(2)	19						TCTGTTCCTGCTCTGCCTCAT	0.443													46	69					0	0	1	0	0	G	107456886	C	G	107456886	3	3	402	1	0	0	0	0	1	0	0	0	10988	797	28	4	186	4	OR13D1	9	107456886	Missense_Mutation	SNP	C	TCGA-RY-A83X-01A-11D-A36O-08		107456886	33756545	10	33507											
ABCA1	19	broad.mit.edu	37	9	107558678	107558678	+	Missense_Mutation	SNP	C	C	T			TCGA-RY-A83X-01A-11D-A36O-08	TCGA-RY-A83X-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae5ee5e5-80f2-44c6-b33d-35ef309c9ba3	519730cf-646f-4305-bb34-d96cf0de58d9	g.chr9:107558678C>T	ENST00000374736.3	-	38	5543	c.5149G>A	c.(5149-5151)Gtc>Atc	p.V1717I		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	1717					Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	ATGATAATGACCAGTGTGGCA	0.433													15	17					0	0	1	0	0	T	107558678	C	T	107558678	3	4	402	1	0	0	0	0	1	0	0	0	28	507	18	2	1688	2	ABCA1	9	107558678	Missense_Mutation	SNP	C	TCGA-RY-A83X-01A-11D-A36O-08	101792	107558678	33654753	11	33508											
SVIL	6840	broad.mit.edu	37	10	29822350	29822350	+	Missense_Mutation	SNP	C	C	G			TCGA-RY-A83X-01A-11D-A36O-08	TCGA-RY-A83X-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae5ee5e5-80f2-44c6-b33d-35ef309c9ba3	519730cf-646f-4305-bb34-d96cf0de58d9	g.chr10:29822350C>G	ENST00000375398.2	-	10	1395	c.946G>C	c.(946-948)Gct>Cct	p.A316P	SVIL_ENST00000375400.3_Intron|SVIL_ENST00000355867.4_Missense_Mutation_p.A316P			O95425	SVIL_HUMAN	supervillin	316					cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				CTGTTTCGAGCACTTTCCTCT	0.458													13	35					0	0	1	0	0	G	29822350	C	G	29822350	3	3	402	1	0	0	0	0	1	0	0	0	15477	710	25	5	5822	5	SVIL	10	29822350	Missense_Mutation	SNP	C	TCGA-RY-A83X-01A-11D-A36O-08		29822350	105712397	12	33509											
SORCS3	22986	broad.mit.edu	37	10	106602584	106602584	+	Missense_Mutation	SNP	A	A	G			TCGA-RY-A83X-01A-11D-A36O-08	TCGA-RY-A83X-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae5ee5e5-80f2-44c6-b33d-35ef309c9ba3	519730cf-646f-4305-bb34-d96cf0de58d9	g.chr10:106602584A>G	ENST00000369701.3	+	2	889	c.662A>G	c.(661-663)aAc>aGc	p.N221S		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	221						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		TATGACTTCAACCTGGGCAGC	0.483													4	66					0	0	1	0	0	G	106602584	A	G	106602584	3	3	402	1	0	0	0	0	1	0	0	0	14986	43	2	3	668	3	SORCS3	10	106602584	Missense_Mutation	SNP	A	TCGA-RY-A83X-01A-11D-A36O-08	76780234	106602584	28932163	13	33510											
OR10Q1	219960	broad.mit.edu	37	11	57995753	57995753	+	Missense_Mutation	SNP	C	C	T			TCGA-RY-A83X-01A-11D-A36O-08	TCGA-RY-A83X-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae5ee5e5-80f2-44c6-b33d-35ef309c9ba3	519730cf-646f-4305-bb34-d96cf0de58d9	g.chr11:57995753C>T	ENST00000316770.2	-	1	637	c.595G>A	c.(595-597)Gtg>Atg	p.V199M		NM_001004471.2	NP_001004471.1	Q8NGQ4	O10Q1_HUMAN	olfactory receptor, family 10, subfamily Q, member 1	199					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V199L(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)	35		Breast(21;0.0589)				GCCTGGTGCACGCGGATGTCA	0.592													21	28					0	0	1	0	0	T	57995753	C	T	57995753	3	4	402	1	0	0	0	0	1	0	0	0	10964	536	19	1	368	1	OR10Q1	11	57995753	Missense_Mutation	SNP	C	TCGA-RY-A83X-01A-11D-A36O-08		57995753	77010763	14	33511											
KRT81	3887	broad.mit.edu	37	12	52680923	52680923	+	Missense_Mutation	SNP	C	C	T			TCGA-RY-A83X-01A-11D-A36O-08	TCGA-RY-A83X-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae5ee5e5-80f2-44c6-b33d-35ef309c9ba3	519730cf-646f-4305-bb34-d96cf0de58d9	g.chr12:52680923C>T	ENST00000327741.5	-	7	1278	c.1210G>A	c.(1210-1212)Gcc>Acc	p.A404T	KRT86_ENST00000544024.1_Intron|KRT86_ENST00000423955.2_Intron	NM_002281.3	NP_002272.2	Q14533	KRT81_HUMAN	keratin 81	404	Coil 2.|Rod.					keratin filament	protein binding|structural molecule activity			breast(2)|endometrium(3)|large_intestine(3)|lung(6)|prostate(1)|stomach(1)	16				BRCA - Breast invasive adenocarcinoma(357;0.189)		CTGTAGGTGGCGATCTCGATG	0.642													10	116					0	0	1	0	0	T	52680923	C	T	52680923	3	4	402	1	0	0	0	0	1	0	0	0	8538	768	27	1	319	1	KRT81	12	52680923	Missense_Mutation	SNP	C	TCGA-RY-A83X-01A-11D-A36O-08		52680923	81170972	15	33512											
LRIG3	121227	broad.mit.edu	37	12	59274457	59274457	+	Silent	SNP	G	G	A			TCGA-RY-A83X-01A-11D-A36O-08	TCGA-RY-A83X-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae5ee5e5-80f2-44c6-b33d-35ef309c9ba3	519730cf-646f-4305-bb34-d96cf0de58d9	g.chr12:59274457G>A	ENST00000320743.3	-	13	1993	c.1707C>T	c.(1705-1707)cgC>cgT	p.R569R	LRIG3_ENST00000379141.4_Silent_p.R509R	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	leucine-rich repeats and immunoglobulin-like domains 3	569	Ig-like C2-type 1.					integral to membrane			LRIG3/ROS1(2)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48			GBM - Glioblastoma multiforme(1;1.17e-18)			ATTCCACCTCGCGCAGCCGAA	0.468			T	ROS1	NSCLC								24	51					0	0	1	0	0	A	59274457	G	A	59274457	2	1	402	1	0	0	0	0	0	0	0	1	8991	1074	38	1		1	LRIG3	12	59274457	Silent	SNP	G	TCGA-RY-A83X-01A-11D-A36O-08	6593534	59274457	74577438	16	33513											
UBC	7316	broad.mit.edu	37	12	125397211	125397211	+	Silent	SNP	G	G	A			TCGA-RY-A83X-01A-11D-A36O-08	TCGA-RY-A83X-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae5ee5e5-80f2-44c6-b33d-35ef309c9ba3	519730cf-646f-4305-bb34-d96cf0de58d9	g.chr12:125397211G>A	ENST00000536769.1	-	1	2683	c.1107C>T	c.(1105-1107)tcC>tcT	p.S369S	UBC_ENST00000339647.5_Silent_p.S369S|UBC_ENST00000546120.1_Silent_p.S293S|UBC_ENST00000538617.1_Intron			P0CG48	UBC_HUMAN	ubiquitin C	369	Ubiquitin-like 5.				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding			breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		GGTGCAAGGTGGACTCTTTCT	0.542													87	227					0	0	1	0	0	A	125397211	G	A	125397211	2	1	402	1	0	0	0	0	0	0	0	1	16903	1335	47	2		2	UBC	12	125397211	Silent	SNP	G	TCGA-RY-A83X-01A-11D-A36O-08	66122754	125397211	8454684	17	33514											
ADCY4	196883	broad.mit.edu	37	14	24787935	24787935	+	Silent	SNP	C	C	T			TCGA-RY-A83X-01A-11D-A36O-08	TCGA-RY-A83X-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae5ee5e5-80f2-44c6-b33d-35ef309c9ba3	519730cf-646f-4305-bb34-d96cf0de58d9	g.chr14:24787935C>T	ENST00000310677.4	-	25	3119	c.3006G>A	c.(3004-3006)ccG>ccA	p.P1002P	ADCY4_ENST00000554068.2_Silent_p.P1002P|ADCY4_ENST00000418030.2_Silent_p.P1002P	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	1002					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding|protein binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(265;0.0192)		TGTCATATTGCGGCTTCTGGG	0.522													11	120					0	0	1	0	0	T	24787935	C	T	24787935	2	4	402	1	0	0	0	0	0	0	0	1	295	755	27	1		1	ADCY4	14	24787935	Silent	SNP	C	TCGA-RY-A83X-01A-11D-A36O-08		24787935	82561605	18	33515											
NEO1	4756	broad.mit.edu	37	15	73418781	73418781	+	Missense_Mutation	SNP	G	G	A			TCGA-RY-A83X-01A-11D-A36O-08	TCGA-RY-A83X-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae5ee5e5-80f2-44c6-b33d-35ef309c9ba3	519730cf-646f-4305-bb34-d96cf0de58d9	g.chr15:73418781G>A	ENST00000339362.5	+	5	1195	c.748G>A	c.(748-750)Gta>Ata	p.V250I	NEO1_ENST00000558964.1_Missense_Mutation_p.V250I|NEO1_ENST00000261908.6_Missense_Mutation_p.V250I|NEO1_ENST00000560262.1_Missense_Mutation_p.V250I			Q92859	NEO1_HUMAN	neogenin 1	250	Ig-like C2-type 3.				axon guidance|cell adhesion|positive regulation of muscle cell differentiation	Golgi apparatus|integral to plasma membrane|nucleus				NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	57						ATCAGACTTGGTATTTTTGAA	0.388													4	114					0	0	1	0	0	A	73418781	G	A	73418781	3	1	402	1	0	0	0	0	1	0	0	0	10383	1261	44	2	762	2	NEO1	15	73418781	Missense_Mutation	SNP	G	TCGA-RY-A83X-01A-11D-A36O-08		73418781	29112611	19	33516											
MBTPS1	8720	broad.mit.edu	37	16	84104317	84104317	+	Missense_Mutation	SNP	G	G	A	rs140684387		TCGA-RY-A83X-01A-11D-A36O-08	TCGA-RY-A83X-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae5ee5e5-80f2-44c6-b33d-35ef309c9ba3	519730cf-646f-4305-bb34-d96cf0de58d9	g.chr16:84104317G>A	ENST00000343411.3	-	13	2153	c.1658C>T	c.(1657-1659)tCg>tTg	p.S553L		NM_003791.2	NP_003782.1	Q14703	MBTP1_HUMAN	membrane-bound transcription factor peptidase, site 1	553					cholesterol metabolic process|proteolysis	endoplasmic reticulum lumen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						CCATAAGACCGAGGAGTAGGA	0.512													4	98					0	0	1	0	0	A	84104317	G	A	84104317	3	1	402	1	0	0	0	0	1	0	0	0	9411	1059	37	1	1544	1	MBTPS1	16	84104317	Missense_Mutation	SNP	G	TCGA-RY-A83X-01A-11D-A36O-08		84104317	6250436	20	33517											
EVPL	2125	broad.mit.edu	37	17	74004207	74004207	+	Silent	SNP	C	C	T			TCGA-RY-A83X-01A-11D-A36O-08	TCGA-RY-A83X-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae5ee5e5-80f2-44c6-b33d-35ef309c9ba3	519730cf-646f-4305-bb34-d96cf0de58d9	g.chr17:74004207C>T	ENST00000301607.3	-	22	5332	c.5079G>A	c.(5077-5079)acG>acA	p.T1693T	EVPL_ENST00000586740.1_Silent_p.T1715T	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	1693	Globular 2.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						TGTCCTTCCCCGTCTCGGGTT	0.617													45	66					0	0	1	0	0	T	74004207	C	T	74004207	2	4	402	1	0	0	0	0	0	0	0	1	5320	639	23	1		1	EVPL	17	74004207	Silent	SNP	C	TCGA-RY-A83X-01A-11D-A36O-08		74004207	7191003	21	33518											
OR10H5	284433	broad.mit.edu	37	19	15905218	15905218	+	Silent	SNP	C	C	T			TCGA-RY-A83X-01A-11D-A36O-08	TCGA-RY-A83X-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae5ee5e5-80f2-44c6-b33d-35ef309c9ba3	519730cf-646f-4305-bb34-d96cf0de58d9	g.chr19:15905218C>T	ENST00000308940.8	+	1	458	c.360C>T	c.(358-360)taC>taT	p.Y120Y		NM_001004466.1	NP_001004466.1	Q8NGA6	O10H5_HUMAN	olfactory receptor, family 10, subfamily H, member 5	120					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(9)|ovary(1)	20						TCATGGGCTACGACCGCTACG	0.642													48	73					0	0	1	0	0	T	15905218	C	T	15905218	2	4	402	1	0	0	0	0	0	0	0	1	10957	547	19	1		1	OR10H5	19	15905218	Silent	SNP	C	TCGA-RY-A83X-01A-11D-A36O-08		15905218	43223765	22	33519											
CIC	23152	broad.mit.edu	37	19	42795089	42795089	+	Frame_Shift_Del	DEL	G	G	-			TCGA-RY-A83X-01A-11D-A36O-08	TCGA-RY-A83X-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae5ee5e5-80f2-44c6-b33d-35ef309c9ba3	519730cf-646f-4305-bb34-d96cf0de58d9	g.chr19:42795089delG	ENST00000572681.2	+	11	4964	c.4896delG	c.(4894-4896)ctgfs	p.L1632fs	CIC_ENST00000160740.3_Frame_Shift_Del_p.L723fs|CIC_ENST00000575354.2_Frame_Shift_Del_p.L723fs			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	723					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				GCTCCCCGCTGGGTGTCAGCT	0.652			"Mis, F, S"		oligodendroglioma								18	10	---	---	---	---						-	42795089	G	-	42795089	7	5	402	1	0	1	0	1	0	0	0	0	3446	1335	47	0	2207	0	CIC	19	42795089	Frame_Shift_Del	DEL	G	TCGA-RY-A83X-01A-11D-A36O-08	26889871	42795089	16333894	23	33520											
FAM9C	171484	broad.mit.edu	37	X	13061059	13061059	+	Silent	SNP	G	G	A			TCGA-RY-A83X-01A-11D-A36O-08	TCGA-RY-A83X-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae5ee5e5-80f2-44c6-b33d-35ef309c9ba3	519730cf-646f-4305-bb34-d96cf0de58d9	g.chrX:13061059G>A	ENST00000542843.1	-	4	402	c.192C>T	c.(190-192)acC>acT	p.T64T	FAM9C_ENST00000333995.3_Silent_p.T64T|FAM9C_ENST00000380625.3_Silent_p.T64T			Q8IZT9	FAM9C_HUMAN	family with sequence similarity 9, member C	64						nucleus				NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|upper_aerodigestive_tract(1)	5						CTAGCTCCTTGGTATCAACCC	0.348													8	83					0	0	1	0	0	A	13061059	G	A	13061059	2	1	402	1	0	0	0	0	0	0	0	1	5694	1335	47	2		2	FAM9C	23	13061059	Silent	SNP	G	TCGA-RY-A83X-01A-11D-A36O-08		13061059	142209501	24	33521											
DACH2	117154	broad.mit.edu	37	X	85404019	85404019	+	Missense_Mutation	SNP	G	G	A			TCGA-RY-A83X-01A-11D-A36O-08	TCGA-RY-A83X-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae5ee5e5-80f2-44c6-b33d-35ef309c9ba3	519730cf-646f-4305-bb34-d96cf0de58d9	g.chrX:85404019G>A	ENST00000373131.1	+	1	558	c.395G>A	c.(394-396)cGc>cAc	p.R132H	DACH2_ENST00000373125.4_Missense_Mutation_p.R132H	NM_001139514.1	NP_001132986.1	Q96NX9	DACH2_HUMAN	dachshund homolog 2 (Drosophila)	132	DACHbox-N.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|nucleotide binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						CGGATCCTCCGCGGGCTGGGG	0.567													5	72					0	0	1	0	0	A	85404019	G	A	85404019	3	1	402	1	0	0	0	0	1	0	0	0	4245	1087	38	1	397	1	DACH2	23	85404019	Missense_Mutation	SNP	G	TCGA-RY-A83X-01A-11D-A36O-08	72342960	85404019	69866541	25	33522											
PHF6	84295	broad.mit.edu	37	X	133511650	133511650	+	Translation_Start_Site	SNP	G	G	C			TCGA-RY-A83X-01A-11D-A36O-08	TCGA-RY-A83X-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae5ee5e5-80f2-44c6-b33d-35ef309c9ba3	519730cf-646f-4305-bb34-d96cf0de58d9	g.chrX:133511650G>C	ENST00000332070.3	+	2	205	c.3G>C	c.(1-3)atG>atC	p.M1I	PHF6_ENST00000370803.3_Start_Codon_SNP_p.M1I|PHF6_ENST00000394292.1_Start_Codon_SNP_p.M1I|PHF6_ENST00000370799.1_Start_Codon_SNP_p.M1I|PHF6_ENST00000370800.4_Start_Codon_SNP_p.M1I|PHF6_ENST00000416404.2_Start_Codon_SNP_p.M1I	NM_032458.2	NP_115834.1	Q8IWS0	PHF6_HUMAN	PHD finger protein 6	1					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	zinc ion binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(88)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|ovary(1)|skin(1)|urinary_tract(1)	103	Acute lymphoblastic leukemia(192;0.000127)					TAAAAATCATGTCAAGCTCAG	0.343			"F, N, Splice, Mis"		ETP ALL								43	101					0	0	1	0	0	C	133511650	G	C	133511650	1	2	402	1	0	0	0	0	0	0	0	0	11886	1377	48	5		5	PHF6	23	133511650	Translation_Start_Site	SNP	G	TCGA-RY-A83X-01A-11D-A36O-08	48107631	133511650	21758910	26	33523											
FBXO2	26232	broad.mit.edu	37	1	11710604	11710604	+	Frame_Shift_Del	DEL	C	C	-			TCGA-RY-A83Y-01A-11D-A36O-08	TCGA-RY-A83Y-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd64d5e-ef83-4d59-afee-255bf044af2e	4a4dbfc4-a72d-4c24-ba49-b7ceb25c9b18	g.chr1:11710604delC	ENST00000354287.4	-	2	651	c.310delG	c.(310-312)gagfs	p.E106fs		NM_012168.5	NP_036300.2	Q9UK22	FBX2_HUMAN	F-box protein 2	106					glycoprotein catabolic process|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytosol|endoplasmic reticulum|membrane|microsome|SCF ubiquitin ligase complex	sugar binding|ubiquitin-protein ligase activity			kidney(1)|large_intestine(1)|lung(4)	6	Ovarian(185;0.249)	Lung NSC(185;9.37e-06)|all_lung(284;1.39e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|BRCA - Breast invasive adenocarcinoma(304;1.88e-06)|Colorectal(212;4.88e-06)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|Lung(427;0.0146)|LUSC - Lung squamous cell carcinoma(448;0.0228)|READ - Rectum adenocarcinoma(331;0.0649)		CGCTCCTCCTCCACGCCGCCC	0.697													2	4	---	---	---	---						-	11710604	C	-	11710604	7	5	403	1	0	1	0	1	0	0	0	0	5765	864	30	0	600	0	FBXO2	1	11710604	Frame_Shift_Del	DEL	C	TCGA-RY-A83Y-01A-11D-A36O-08		11710604	237540017	1	33524											
CDKN2C	1031	broad.mit.edu	37	1	51439739	51439739	+	Nonsense_Mutation	SNP	G	G	T			TCGA-RY-A83Y-01A-11D-A36O-08	TCGA-RY-A83Y-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd64d5e-ef83-4d59-afee-255bf044af2e	4a4dbfc4-a72d-4c24-ba49-b7ceb25c9b18	g.chr1:51439739G>T	ENST00000262662.1	+	4	2338	c.304G>T	c.(304-306)Gaa>Taa	p.E102*	CDKN2C_ENST00000396148.1_Nonsense_Mutation_p.E102*|CDKN2C_ENST00000371761.3_Nonsense_Mutation_p.E102*			P42773	CDN2C_HUMAN	cyclin-dependent kinase inhibitor 2C (p18, inhibits CDK4)	102					cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|regulation of cyclin-dependent protein kinase activity	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|protein kinase binding	p.0?(11)|p.?(1)		central_nervous_system(8)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|thyroid(1)	23				GBM - Glioblastoma multiforme(3;3.61e-13)|all cancers(3;0.00151)		CGAGGATAATGAAGGGAACCT	0.532			D		"glioma, MM"								29	9					4.22769e-11	4.33339e-11	1	1	0	T	51439739	G	T	51439739	4	4	403	1	0	0	0	0	0	1	0	0	3187	1291	45	5	310	5	CDKN2C	1	51439739	Nonsense_Mutation	SNP	G	TCGA-RY-A83Y-01A-11D-A36O-08	39729135	51439739	197810882	2	33525											
FUBP1	8880	broad.mit.edu	37	1	78429797	78429797	+	Nonsense_Mutation	SNP	G	G	A			TCGA-RY-A83Y-01A-11D-A36O-08	TCGA-RY-A83Y-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd64d5e-ef83-4d59-afee-255bf044af2e	4a4dbfc4-a72d-4c24-ba49-b7ceb25c9b18	g.chr1:78429797G>A	ENST00000370767.1	-	12	1078	c.991C>T	c.(991-993)Cga>Tga	p.R331*	FUBP1_ENST00000436586.2_Nonsense_Mutation_p.R352*|FUBP1_ENST00000370768.2_Nonsense_Mutation_p.R331*			Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1	331	KH 3.				transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						TGTTGACATCGGTCTGGAGGT	0.323			"F, N"		oligodendroglioma								48	18					0	0	1	0	0	A	78429797	G	A	78429797	4	1	403	1	0	0	0	0	0	1	0	0	6127	1124	39	1	979	1	FUBP1	1	78429797	Nonsense_Mutation	SNP	G	TCGA-RY-A83Y-01A-11D-A36O-08	26990058	78429797	170820824	3	33526											
HAO2	51179	broad.mit.edu	37	1	119934802	119934802	+	Nonsense_Mutation	SNP	C	C	T			TCGA-RY-A83Y-01A-11D-A36O-08	TCGA-RY-A83Y-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd64d5e-ef83-4d59-afee-255bf044af2e	4a4dbfc4-a72d-4c24-ba49-b7ceb25c9b18	g.chr1:119934802C>T	ENST00000361035.4	+	7	1163	c.880C>T	c.(880-882)Cga>Tga	p.R294*	HAO2_ENST00000325945.3_Nonsense_Mutation_p.R281*			Q9NYQ3	HAOX2_HUMAN	hydroxyacid oxidase 2 (long chain)	281	FMN hydroxy acid dehydrogenase.			LGA -> HED (in Ref. 2; AAF14000).	fatty acid alpha-oxidation	peroxisome	(S)-2-hydroxy-acid oxidase activity	p.R281*(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.0155)|LUSC - Lung squamous cell carcinoma(189;0.0856)		TGGCGGGGTCCGAACTGGCAA	0.527													24	4					0	0	1	0	0	T	119934802	C	T	119934802	4	4	403	1	0	0	0	0	0	1	0	0	6993	644	23	1	859	1	HAO2	1	119934802	Nonsense_Mutation	SNP	C	TCGA-RY-A83Y-01A-11D-A36O-08	41505005	119934802	129315819	4	33527											
ARHGAP25	9938	broad.mit.edu	37	2	69046419	69046419	+	Nonsense_Mutation	SNP	C	C	T			TCGA-RY-A83Y-01A-11D-A36O-08	TCGA-RY-A83Y-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd64d5e-ef83-4d59-afee-255bf044af2e	4a4dbfc4-a72d-4c24-ba49-b7ceb25c9b18	g.chr2:69046419C>T	ENST00000295381.3	+	9	1584	c.1165C>T	c.(1165-1167)Cga>Tga	p.R389*	ARHGAP25_ENST00000409030.3_Nonsense_Mutation_p.R382*|ARHGAP25_ENST00000409202.3_Nonsense_Mutation_p.R390*|ARHGAP25_ENST00000409220.1_Nonsense_Mutation_p.R383*|ARHGAP25_ENST00000479844.1_Nonsense_Mutation_p.R83*|ARHGAP25_ENST00000497079.1_Nonsense_Mutation_p.R383*|ARHGAP25_ENST00000467265.1_Nonsense_Mutation_p.R350*	NM_001007231.2	NP_001007232.2	P42331	RHG25_HUMAN	Rho GTPase activating protein 25	389					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	52						TGAAGACCTCCGAATTTCTAG	0.532													36	48					0	0	1	0	0	T	69046419	C	T	69046419	4	4	403	1	0	0	0	0	0	1	0	0	871	644	23	1	1242	1	ARHGAP25	2	69046419	Nonsense_Mutation	SNP	C	TCGA-RY-A83Y-01A-11D-A36O-08		69046419	174152954	5	33528											
CCT7	10574	broad.mit.edu	37	2	73474935	73474936	+	Frame_Shift_Ins	INS	-	-	AA			TCGA-RY-A83Y-01A-11D-A36O-08	TCGA-RY-A83Y-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd64d5e-ef83-4d59-afee-255bf044af2e	4a4dbfc4-a72d-4c24-ba49-b7ceb25c9b18	g.chr2:73474935_73474936insAA	ENST00000539919.1	+	8	903_904	c.532_533insAA	c.(532-534)tacfs	p.Y178fs	CCT7_ENST00000540468.1_Frame_Shift_Ins_p.Y135fs|CCT7_ENST00000538797.1_Frame_Shift_Ins_p.Y94fs|CCT7_ENST00000398422.2_Frame_Shift_Ins_p.Y18fs|CCT7_ENST00000258091.5_Frame_Shift_Ins_p.Y222fs|CCT7_ENST00000537131.1_Frame_Shift_Ins_p.Y122fs|CCT7_ENST00000473786.1_3'UTR	NM_001166285.1	NP_001159757.1	Q99832	TCPH_HUMAN	chaperonin containing TCP1, subunit 7 (eta)	222					'de novo' posttranslational protein folding		ATP binding|unfolded protein binding			breast(1)|cervix(1)|endometrium(1)|lung(3)|stomach(1)	7						GACTTTCTCTTACGCTGGGTTT	0.381													25	40	---	---	---	---						AA	73474936	-	AA	73474935	7	5	403	1	0	1	1	0	0	0	0	0	2981	1754	61	0	690	0	CCT7	2	73474935	Frame_Shift_Ins	INS	-	TCGA-RY-A83Y-01A-11D-A36O-08	4428516	73474935	169724438	6	33529											
TTN	7273	broad.mit.edu	37	2	179463526	179463526	+	Missense_Mutation	SNP	C	C	T			TCGA-RY-A83Y-01A-11D-A36O-08	TCGA-RY-A83Y-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd64d5e-ef83-4d59-afee-255bf044af2e	4a4dbfc4-a72d-4c24-ba49-b7ceb25c9b18	g.chr2:179463526C>T	ENST00000589042.1	-	291	57135	c.56911G>A	c.(56911-56913)Gtg>Atg	p.V18971M	TTN_ENST00000342992.6_Missense_Mutation_p.V16403M|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V10098M|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.V17330M|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V10031M|TTN_ENST00000460472.2_Missense_Mutation_p.V9906M|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592630.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	17330	Fibronectin type-III 37.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCTGGACCCACGCCAGCAGCA	0.428													73	96					0	0	1	0	0	T	179463526	C	T	179463526	3	4	403	1	0	0	0	0	1	0	0	0	16797	536	19	1	51070	1	TTN	2	179463526	Missense_Mutation	SNP	C	TCGA-RY-A83Y-01A-11D-A36O-08	105988591	179463526	63735847	7	33530											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-RY-A83Y-01A-11D-A36O-08	TCGA-RY-A83Y-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd64d5e-ef83-4d59-afee-255bf044af2e	4a4dbfc4-a72d-4c24-ba49-b7ceb25c9b18	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								32	47					0	0	1	0	0	T	209113112	C	T	209113112	3	4	403	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-RY-A83Y-01A-11D-A36O-08	29649586	209113112	34086261	8	33531											
KIF15	56992	broad.mit.edu	37	3	44879796	44879796	+	Silent	SNP	T	T	C			TCGA-RY-A83Y-01A-11D-A36O-08	TCGA-RY-A83Y-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd64d5e-ef83-4d59-afee-255bf044af2e	4a4dbfc4-a72d-4c24-ba49-b7ceb25c9b18	g.chr3:44879796T>C	ENST00000326047.4	+	27	3350	c.3201T>C	c.(3199-3201)caT>caC	p.H1067H	KIF15_ENST00000425755.1_Silent_p.H702H	NM_020242.2	NP_064627.1	Q9NS87	KIF15_HUMAN	kinesin family member 15	1067					blood coagulation|cell proliferation|microtubule-based movement|mitosis	centrosome|cytosol|microtubule|plus-end kinesin complex|spindle	ATP binding|DNA binding|microtubule motor activity			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(5)	36				BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707)		ACCTGGCTCATGCCACTGAGC	0.468													19	22					0	0	1	0	0	C	44879796	T	C	44879796	2	2	403	1	0	0	0	0	0	0	0	1	8319	1461	51	3		3	KIF15	3	44879796	Silent	SNP	T	TCGA-RY-A83Y-01A-11D-A36O-08		44879796	153142634	9	33532											
MYL5	4636	broad.mit.edu	37	4	672778	672778	+	Missense_Mutation	SNP	G	G	C			TCGA-RY-A83Y-01A-11D-A36O-08	TCGA-RY-A83Y-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd64d5e-ef83-4d59-afee-255bf044af2e	4a4dbfc4-a72d-4c24-ba49-b7ceb25c9b18	g.chr4:672778G>C	ENST00000506838.1	+	4	2544	c.20G>C	c.(19-21)gGc>gCc	p.G7A	MYL5_ENST00000505477.1_Missense_Mutation_p.G7A|MYL5_ENST00000511290.1_Missense_Mutation_p.G7A|MYL5_ENST00000400159.2_Missense_Mutation_p.G48A			Q02045	MYL5_HUMAN	myosin, light chain 5, regulatory	48					regulation of muscle contraction	muscle myosin complex	calcium ion binding|structural constituent of muscle			endometrium(1)|kidney(1)|lung(1)	3						AACCGAGATGGCTTCATTGAC	0.627													27	66					0	0	1	0	0	C	672778	G	C	672778	3	2	403	1	0	0	0	0	1	0	0	0	10098	1203	42	5	153	5	MYL5	4	672778	Missense_Mutation	SNP	G	TCGA-RY-A83Y-01A-11D-A36O-08		672778	190481498	10	33533											
PCDH7	5099	broad.mit.edu	37	4	30921804	30921804	+	Silent	SNP	G	G	A			TCGA-RY-A83Y-01A-11D-A36O-08	TCGA-RY-A83Y-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd64d5e-ef83-4d59-afee-255bf044af2e	4a4dbfc4-a72d-4c24-ba49-b7ceb25c9b18	g.chr4:30921804G>A	ENST00000543491.1	+	2	3204	c.3204G>A	c.(3202-3204)gtG>gtA	p.V1068V	PCDH7_ENST00000509925.1_3'UTR			O60245	PCDH7_HUMAN	protocadherin 7	0					homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						TTTCTGTTGTGAGTCAGCCTC	0.428													19	39					0	0	1	0	0	A	30921804	G	A	30921804	2	1	403	1	0	0	0	0	0	0	0	1	11563	1277	45	2		2	PCDH7	4	30921804	Silent	SNP	G	TCGA-RY-A83Y-01A-11D-A36O-08	30249026	30921804	160232472	11	33534											
AGPAT9	84803	broad.mit.edu	37	4	84519288	84519288	+	Missense_Mutation	SNP	G	G	A			TCGA-RY-A83Y-01A-11D-A36O-08	TCGA-RY-A83Y-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd64d5e-ef83-4d59-afee-255bf044af2e	4a4dbfc4-a72d-4c24-ba49-b7ceb25c9b18	g.chr4:84519288G>A	ENST00000395226.2	+	11	1299	c.1081G>A	c.(1081-1083)Gcc>Acc	p.A361T	AGPAT9_ENST00000264409.4_Missense_Mutation_p.A361T	NM_001256421.1	NP_001243350.1	Q53EU6	GPAT3_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 9	361					phospholipid biosynthetic process|regulation of TOR signaling cascade|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	glycerol-3-phosphate O-acyltransferase activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(3)	13		Hepatocellular(203;0.114)				GACCAGCTGGGCCATCGTCTG	0.453													32	50					0	0	1	0	0	A	84519288	G	A	84519288	3	1	403	1	0	0	0	0	1	0	0	0	389	1203	42	2	1119	2	AGPAT9	4	84519288	Missense_Mutation	SNP	G	TCGA-RY-A83Y-01A-11D-A36O-08	53597484	84519288	106634988	12	33535											
NIPBL	25836	broad.mit.edu	37	5	37051937	37051937	+	Frame_Shift_Del	DEL	G	G	-			TCGA-RY-A83Y-01A-11D-A36O-08	TCGA-RY-A83Y-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd64d5e-ef83-4d59-afee-255bf044af2e	4a4dbfc4-a72d-4c24-ba49-b7ceb25c9b18	g.chr5:37051937delG	ENST00000282516.8	+	41	7510	c.7011delG	c.(7009-7011)aagfs	p.K2337fs	NIPBL_ENST00000448238.2_Frame_Shift_Del_p.K2337fs	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	2337					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			TGCGGAACAAGGCTGATCAGC	0.318													36	54	---	---	---	---						-	37051937	G	-	37051937	7	5	403	1	0	1	0	1	0	0	0	0	10475	991	35	0	7169	0	NIPBL	5	37051937	Frame_Shift_Del	DEL	G	TCGA-RY-A83Y-01A-11D-A36O-08		37051937	143863323	13	33536											
ACSL6	23305	broad.mit.edu	37	5	131309076	131309076	+	Silent	SNP	G	G	A			TCGA-RY-A83Y-01A-11D-A36O-08	TCGA-RY-A83Y-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd64d5e-ef83-4d59-afee-255bf044af2e	4a4dbfc4-a72d-4c24-ba49-b7ceb25c9b18	g.chr5:131309076G>A	ENST00000379264.2	-	12	1194	c.1086C>T	c.(1084-1086)caC>caT	p.H362H	ACSL6_ENST00000544770.1_Silent_p.H246H|ACSL6_ENST00000379246.1_Silent_p.H348H|ACSL6_ENST00000379249.3_Silent_p.H337H|ACSL6_ENST00000379240.1_Silent_p.H337H|ACSL6_ENST00000379244.1_Silent_p.H337H|ACSL6_ENST00000379255.1_Intron|ACSL6_ENST00000357096.1_Intron|ACSL6_ENST00000296869.4_Silent_p.H362H|ACSL6_ENST00000543479.1_Silent_p.H337H|ACSL6_ENST00000379272.2_Silent_p.H352H|ACSL6_ENST00000431707.1_Silent_p.H317H	NM_001009185.2	NP_001009185.1	Q9UKU0	ACSL6_HUMAN	acyl-CoA synthetase long-chain family member 6	337					fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane|plasma membrane	ATP binding|long-chain fatty acid-CoA ligase activity			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	35		all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CACGCCCTCCGTGGCAATAGA	0.552													21	14					0	0	1	0	0	A	131309076	G	A	131309076	2	1	403	1	0	0	0	0	0	0	0	1	181	1136	40	1		1	ACSL6	5	131309076	Silent	SNP	G	TCGA-RY-A83Y-01A-11D-A36O-08	94257139	131309076	49606184	14	33537											
PCDHA2	56146	broad.mit.edu	37	5	140176522	140176522	+	Missense_Mutation	SNP	C	C	T			TCGA-RY-A83Y-01A-11D-A36O-08	TCGA-RY-A83Y-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd64d5e-ef83-4d59-afee-255bf044af2e	4a4dbfc4-a72d-4c24-ba49-b7ceb25c9b18	g.chr5:140176522C>T	ENST00000526136.1	+	1	1973	c.1973C>T	c.(1972-1974)gCg>gTg	p.A658V	PCDHA2_ENST00000378132.1_Missense_Mutation_p.A658V|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000520672.2_Missense_Mutation_p.A658V|PCDHA1_ENST00000394633.3_Intron	NM_018905.2	NP_061728.1														NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCGAACCAGCGTTGACAGCC	0.662													42	65					0	0	1	0	0	T	140176522	C	T	140176522	3	4	403	1	0	0	0	0	1	0	0	0	11571	768	27	1	1975	1	PCDHA2	5	140176522	Missense_Mutation	SNP	C	TCGA-RY-A83Y-01A-11D-A36O-08	8867446	140176522	40738738	15	33538											
FAM71B	153745	broad.mit.edu	37	5	156593091	156593091	+	Missense_Mutation	SNP	C	C	T			TCGA-RY-A83Y-01A-11D-A36O-08	TCGA-RY-A83Y-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd64d5e-ef83-4d59-afee-255bf044af2e	4a4dbfc4-a72d-4c24-ba49-b7ceb25c9b18	g.chr5:156593091C>T	ENST00000302938.4	-	1	184	c.89G>A	c.(88-90)cGa>cAa	p.R30Q		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	30						nucleus				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GTACAATTGTCGTTGCAGGTC	0.403													8	128					0	0	1	0	0	T	156593091	C	T	156593091	3	4	403	1	0	0	0	0	1	0	0	0	5643	884	31	1	1736	1	FAM71B	5	156593091	Missense_Mutation	SNP	C	TCGA-RY-A83Y-01A-11D-A36O-08	16416569	156593091	24322169	16	33539											
LCP2	3937	broad.mit.edu	37	5	169695476	169695476	+	Frame_Shift_Del	DEL	G	G	-			TCGA-RY-A83Y-01A-11D-A36O-08	TCGA-RY-A83Y-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd64d5e-ef83-4d59-afee-255bf044af2e	4a4dbfc4-a72d-4c24-ba49-b7ceb25c9b18	g.chr5:169695476delG	ENST00000046794.5	-	8	1149	c.534delC	c.(532-534)cccfs	p.P178fs		NM_005565.3	NP_005556.1	Q13094	LCP2_HUMAN	lymphocyte cytosolic protein 2 (SH2 domain containing leukocyte protein of 76kDa)	178					immune response|platelet activation|T cell receptor signaling pathway|transmembrane receptor protein tyrosine kinase signaling pathway	cytosol	protein binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	23	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0109)|all_neural(177;0.0146)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	OV - Ovarian serous cystadenocarcinoma(192;0.247)		TTTTCCCAGAGGGGGGCCGGT	0.652											OREG0017023	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2	4	---	---	---	---						-	169695476	G	-	169695476	7	5	403	1	0	1	0	1	0	0	0	0	8731	987	35	0	1123	0	LCP2	5	169695476	Frame_Shift_Del	DEL	G	TCGA-RY-A83Y-01A-11D-A36O-08	13102385	169695476	11219784	17	33540											
RPL26L1	51121	broad.mit.edu	37	5	172395514	172395514	+	Missense_Mutation	SNP	A	A	G			TCGA-RY-A83Y-01A-11D-A36O-08	TCGA-RY-A83Y-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd64d5e-ef83-4d59-afee-255bf044af2e	4a4dbfc4-a72d-4c24-ba49-b7ceb25c9b18	g.chr5:172395514A>G	ENST00000521476.1	+	3	345	c.221A>G	c.(220-222)tAc>tGc	p.Y74C	RPL26L1_ENST00000519239.1_Missense_Mutation_p.Y74C|RPL26L1_ENST00000519974.1_Missense_Mutation_p.Y74C|RPL26L1_ENST00000265100.2_Missense_Mutation_p.Y74C			Q9UNX3	RL26L_HUMAN	ribosomal protein L26-like 1	74					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|large ribosomal subunit	structural constituent of ribosome			breast(1)|endometrium(1)|kidney(1)|lung(2)|prostate(1)|urinary_tract(1)	7	Renal(175;0.000159)|Lung NSC(126;0.00344)|all_lung(126;0.00594)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GTCCAGGTGTACAGAAAGAAA	0.478													5	174					0	0	1	0	0	G	172395514	A	G	172395514	3	3	403	1	0	0	0	0	1	0	0	0	13626	391	14	3	227	3	RPL26L1	5	172395514	Missense_Mutation	SNP	A	TCGA-RY-A83Y-01A-11D-A36O-08	2700038	172395514	8519746	18	33541											
MAN1A1	4121	broad.mit.edu	37	6	119510998	119510998	+	Silent	SNP	G	G	A			TCGA-RY-A83Y-01A-11D-A36O-08	TCGA-RY-A83Y-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd64d5e-ef83-4d59-afee-255bf044af2e	4a4dbfc4-a72d-4c24-ba49-b7ceb25c9b18	g.chr6:119510998G>A	ENST00000368468.3	-	10	1818	c.1377C>T	c.(1375-1377)atC>atT	p.I459I		NM_005907.3	NP_005898.2	P33908	MA1A1_HUMAN	mannosidase, alpha, class 1A, member 1	459					post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum|ER-Golgi intermediate compartment|Golgi membrane|integral to membrane|membrane fraction	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	p.I459I(2)		central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|skin(3)	24		all_epithelial(87;0.173)		OV - Ovarian serous cystadenocarcinoma(136;0.0612)|GBM - Glioblastoma multiforme(226;0.0702)|all cancers(137;0.115)		TCCACTCTGCGATATAAGTTA	0.498													7	50					0	0	1	0	0	A	119510998	G	A	119510998	2	1	403	1	0	0	0	0	0	0	0	1	9260	1048	37	1		1	MAN1A1	6	119510998	Silent	SNP	G	TCGA-RY-A83Y-01A-11D-A36O-08		119510998	51604069	19	33542											
HIVEP2	3097	broad.mit.edu	37	6	143091825	143091825	+	Missense_Mutation	SNP	T	T	C			TCGA-RY-A83Y-01A-11D-A36O-08	TCGA-RY-A83Y-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd64d5e-ef83-4d59-afee-255bf044af2e	4a4dbfc4-a72d-4c24-ba49-b7ceb25c9b18	g.chr6:143091825T>C	ENST00000367603.2	-	5	4793	c.4051A>G	c.(4051-4053)Aca>Gca	p.T1351A	HIVEP2_ENST00000012134.2_Missense_Mutation_p.T1351A|HIVEP2_ENST00000367604.1_Missense_Mutation_p.T1351A	NM_006734.3	NP_006725.3	P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	1351					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		GAAATGCTTGTGTACATGACA	0.498													5	73					0	0	1	0	0	C	143091825	T	C	143091825	3	2	403	1	0	0	0	0	1	0	0	0	7228	1696	59	3	3313	3	HIVEP2	6	143091825	Missense_Mutation	SNP	T	TCGA-RY-A83Y-01A-11D-A36O-08	23580827	143091825	28023242	20	33543											
AUTS2	26053	broad.mit.edu	37	7	70231294	70231294	+	Missense_Mutation	SNP	A	A	G			TCGA-RY-A83Y-01A-11D-A36O-08	TCGA-RY-A83Y-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd64d5e-ef83-4d59-afee-255bf044af2e	4a4dbfc4-a72d-4c24-ba49-b7ceb25c9b18	g.chr7:70231294A>G	ENST00000342771.4	+	9	1984	c.1663A>G	c.(1663-1665)Atc>Gtc	p.I555V	AUTS2_ENST00000406775.2_Missense_Mutation_p.I555V	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	555										breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		ACCCACCGCCATCATGCCGAC	0.617													27	32					0	0	1	0	0	G	70231294	A	G	70231294	3	3	403	1	0	0	0	0	1	0	0	0	1223	217	8	3	1842	3	AUTS2	7	70231294	Missense_Mutation	SNP	A	TCGA-RY-A83Y-01A-11D-A36O-08		70231294	88907369	21	33544											
CHPF2	54480	broad.mit.edu	37	7	150932567	150932567	+	Missense_Mutation	SNP	C	C	T	rs56366346	by1000genomes	TCGA-RY-A83Y-01A-11D-A36O-08	TCGA-RY-A83Y-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd64d5e-ef83-4d59-afee-255bf044af2e	4a4dbfc4-a72d-4c24-ba49-b7ceb25c9b18	g.chr7:150932567C>T	ENST00000035307.2	+	2	2210	c.697C>T	c.(697-699)Cgg>Tgg	p.R233W	CHPF2_ENST00000495645.1_Missense_Mutation_p.R225W	NM_019015.1	NP_061888.1	Q9P2E5	CHPF2_HUMAN	chondroitin polymerizing factor 2	233						Golgi cisterna membrane|integral to membrane	N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity			breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(4)|prostate(1)|skin(3)	17						CCTGTTGTCACGGAGTCTCCT	0.602													42	68					0	0	1	0	0	T	150932567	C	T	150932567	3	4	403	1	0	0	0	0	1	0	0	0	3391	527	19	1	703	1	CHPF2	7	150932567	Missense_Mutation	SNP	C	TCGA-RY-A83Y-01A-11D-A36O-08	80701273	150932567	8206096	22	33545											
UBE2W	55284	broad.mit.edu	37	8	74737473	74737473	+	Missense_Mutation	SNP	T	T	C			TCGA-RY-A83Y-01A-11D-A36O-08	TCGA-RY-A83Y-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd64d5e-ef83-4d59-afee-255bf044af2e	4a4dbfc4-a72d-4c24-ba49-b7ceb25c9b18	g.chr8:74737473T>C	ENST00000517608.1	-	3	206	c.206A>G	c.(205-207)gAc>gGc	p.D69G	UBE2W_ENST00000602593.1_Missense_Mutation_p.D40G|UBE2W_ENST00000602969.1_Missense_Mutation_p.D51G|UBE2W_ENST00000453587.2_Missense_Mutation_p.D40G|UBE2W_ENST00000419880.3_Missense_Mutation_p.D80G|RP11-463D19.2_ENST00000358757.5_Missense_Mutation_p.D40G	NM_018299.4	NP_060769.4	Q96B02	UBE2W_HUMAN	ubiquitin-conjugating enzyme E2W (putative)	40					protein K11-linked ubiquitination|protein monoubiquitination		ATP binding|protein binding|ubiquitin-protein ligase activity			kidney(1)|lung(1)	2	Breast(64;0.0311)		Epithelial(68;0.0235)|all cancers(69;0.0687)|BRCA - Breast invasive adenocarcinoma(89;0.069)			ACCTTCCATGTCTACAATCCA	0.373													6	2					0	0	1	0	0	C	74737473	T	C	74737473	3	2	403	1	0	0	0	0	1	0	0	0	16938	1667	58	3	352	3	UBE2W	8	74737473	Missense_Mutation	SNP	T	TCGA-RY-A83Y-01A-11D-A36O-08		74737473	71626549	23	33546											
ZFHX4	79776	broad.mit.edu	37	8	77761931	77761931	+	Missense_Mutation	SNP	G	G	C			TCGA-RY-A83Y-01A-11D-A36O-08	TCGA-RY-A83Y-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd64d5e-ef83-4d59-afee-255bf044af2e	4a4dbfc4-a72d-4c24-ba49-b7ceb25c9b18	g.chr8:77761931G>C	ENST00000521891.2	+	8	4277	c.3829G>C	c.(3829-3831)Gag>Cag	p.E1277Q	ZFHX4_ENST00000518282.1_Missense_Mutation_p.E1251Q|ZFHX4_ENST00000455469.2_Missense_Mutation_p.E1232Q|ZFHX4_ENST00000050961.6_Missense_Mutation_p.E1232Q	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1232						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AGACTGTGTGGAGAAGCTGCT	0.428										HNSCC(33;0.089)			3	32					0	0	1	0	0	C	77761931	G	C	77761931	3	2	403	1	0	0	0	0	1	0	0	0	17693	1175	41	5	3855	5	ZFHX4	8	77761931	Missense_Mutation	SNP	G	TCGA-RY-A83Y-01A-11D-A36O-08	3024458	77761931	68602091	24	33547											
ZBTB5	9925	broad.mit.edu	37	9	37440681	37440682	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-RY-A83Y-01A-11D-A36O-08	TCGA-RY-A83Y-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd64d5e-ef83-4d59-afee-255bf044af2e	4a4dbfc4-a72d-4c24-ba49-b7ceb25c9b18	g.chr9:37440681_37440682delAG	ENST00000307750.4	-	2	2055_2056	c.1867_1868delCT	c.(1867-1869)ctgfs	p.L623fs		NM_014872.2	NP_055687.1	O15062	ZBTB5_HUMAN	zinc finger and BTB domain containing 5	623					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)	8				GBM - Glioblastoma multiforme(29;0.00733)|Lung(182;0.226)		TGTCAAAGTCAGAAAAGTTTTG	0.47													32	65	---	---	---	---						-	37440682	AG	-	37440681	7	5	403	1	0	1	0	1	0	0	0	0	17610	188	7	0	169	0	ZBTB5	9	37440681	Frame_Shift_Del	DEL	AG	TCGA-RY-A83Y-01A-11D-A36O-08		37440681	103772750	25	33548											
TDRD7	23424	broad.mit.edu	37	9	100204054	100204054	+	Missense_Mutation	SNP	G	G	A			TCGA-RY-A83Y-01A-11D-A36O-08	TCGA-RY-A83Y-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd64d5e-ef83-4d59-afee-255bf044af2e	4a4dbfc4-a72d-4c24-ba49-b7ceb25c9b18	g.chr9:100204054G>A	ENST00000355295.4	+	6	1047	c.752G>A	c.(751-753)gGc>gAc	p.G251D	TDRD7_ENST00000422139.2_Missense_Mutation_p.G177D	NM_014290.2	NP_055105.2	Q8NHU6	TDRD7_HUMAN	tudor domain containing 7	251	Lotus/OST-HTH 2.				lens fiber cell differentiation|lens morphogenesis in camera-type eye|posttranscriptional regulation of gene expression|spermatogenesis	chromatoid body	mRNA binding			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Acute lymphoblastic leukemia(62;0.158)				CATAACAATGGCATTTGGATA	0.343													28	55					0	0	1	0	0	A	100204054	G	A	100204054	3	1	403	1	0	0	0	0	1	0	0	0	15794	1203	42	2	770	2	TDRD7	9	100204054	Missense_Mutation	SNP	G	TCGA-RY-A83Y-01A-11D-A36O-08	62763373	100204054	41009377	26	33549											
PLEKHG6	55200	broad.mit.edu	37	12	6425456	6425456	+	Silent	SNP	C	C	T			TCGA-RY-A83Y-01A-11D-A36O-08	TCGA-RY-A83Y-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd64d5e-ef83-4d59-afee-255bf044af2e	4a4dbfc4-a72d-4c24-ba49-b7ceb25c9b18	g.chr12:6425456C>T	ENST00000449001.2	+	6	1040	c.546C>T	c.(544-546)agC>agT	p.S182S	PLEKHG6_ENST00000396988.3_Silent_p.S214S|PLEKHG6_ENST00000536531.1_Silent_p.S214S|PLEKHG6_ENST00000011684.7_Silent_p.S214S	NM_001144857.1	NP_001138329.1	Q3KR16	PKHG6_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 6	214	DH.				regulation of Rho protein signal transduction	cleavage furrow|cytoplasm|spindle pole	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(4)	23						ATGTCCCCAGCCTGATTCGAA	0.622													5	0					0	0	1	0	0	T	6425456	C	T	6425456	2	4	403	1	0	0	0	0	0	0	0	1	12122	738	26	2		2	PLEKHG6	12	6425456	Silent	SNP	C	TCGA-RY-A83Y-01A-11D-A36O-08		6425456	127426439	27	33550											
KRT75	9119	broad.mit.edu	37	12	52826917	52826917	+	Silent	SNP	C	C	T			TCGA-RY-A83Y-01A-11D-A36O-08	TCGA-RY-A83Y-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd64d5e-ef83-4d59-afee-255bf044af2e	4a4dbfc4-a72d-4c24-ba49-b7ceb25c9b18	g.chr12:52826917C>T	ENST00000252245.5	-	2	838	c.618G>A	c.(616-618)gaG>gaA	p.E206E		NM_004693.2	NP_004684.2	O95678	K2C75_HUMAN	keratin 75	206	Coil 1B.|Rod.					keratin filament	structural molecule activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(10)|prostate(1)|skin(1)	28				BRCA - Breast invasive adenocarcinoma(357;0.192)		GCCGTCGGAGCTCACTGGTAT	0.552													50	68					0	0	1	0	0	T	52826917	C	T	52826917	2	4	403	1	0	0	0	0	0	0	0	1	8531	796	28	2		2	KRT75	12	52826917	Silent	SNP	C	TCGA-RY-A83Y-01A-11D-A36O-08	46401461	52826917	81024978	28	33551											
ATP5B	506	broad.mit.edu	37	12	57037371	57037371	+	Splice_Site	SNP	C	C	T			TCGA-RY-A83Y-01A-11D-A36O-08	TCGA-RY-A83Y-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd64d5e-ef83-4d59-afee-255bf044af2e	4a4dbfc4-a72d-4c24-ba49-b7ceb25c9b18	g.chr12:57037371C>T	ENST00000262030.3	-	5	658	c.608G>A	c.(607-609)gGg>gAg	p.G203E	ATP5B_ENST00000552919.1_Splice_Site_p.G203E	NM_001686.3	NP_001677.2	P06576	ATPB_HUMAN	ATP synthase, H+ transporting, mitochondrial F1 complex, beta polypeptide	203					angiogenesis|ATP hydrolysis coupled proton transport|regulation of intracellular pH|respiratory electron transport chain	cell surface|mitochondrial nucleoid|mitochondrial proton-transporting ATP synthase, catalytic core|plasma membrane	ATP binding|eukaryotic cell surface binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|hydrogen-exporting ATPase activity, phosphorylative mechanism|MHC class I protein binding|proton-transporting ATPase activity, rotational mechanism			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						ACCAAAAAGCCCTATAAGAGG	0.393													27	42					0	0	1	0	0	T	57037371	C	T	57037371	5	4	403	1	0	0	0	0	0	0	1	0	1147	637	22	2	1005	2	ATP5B	12	57037371	Splice_Site	SNP	C	TCGA-RY-A83Y-01A-11D-A36O-08	4210454	57037371	76814524	29	33552											
PYGL	5836	broad.mit.edu	37	14	51382685	51382685	+	Nonsense_Mutation	SNP	C	C	T			TCGA-RY-A83Y-01A-11D-A36O-08	TCGA-RY-A83Y-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd64d5e-ef83-4d59-afee-255bf044af2e	4a4dbfc4-a72d-4c24-ba49-b7ceb25c9b18	g.chr14:51382685C>T	ENST00000216392.7	-	10	1429	c.1097G>A	c.(1096-1098)tGg>tAg	p.W366*	PYGL_ENST00000532462.1_Nonsense_Mutation_p.W366*|PYGL_ENST00000544180.2_Nonsense_Mutation_p.W332*	NM_002863.4	NP_002854.3	P06737	PYGL_HUMAN	phosphorylase, glycogen, liver	366					glucose homeostasis|glucose metabolic process|glycogen catabolic process	cytosol|soluble fraction	AMP binding|ATP binding|bile acid binding|drug binding|glucose binding|glycogen phosphorylase activity|protein homodimerization activity|purine base binding|pyridoxal phosphate binding			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(3)	25	all_epithelial(31;0.00825)|Breast(41;0.148)				Adenosine monophosphate(DB00131)|Pyridoxal Phosphate(DB00114)|Riboflavin(DB00140)	GGTGAGCTCCCATGCCTGGGG	0.632													23	32					0	0	1	0	0	T	51382685	C	T	51382685	4	4	403	1	0	0	0	0	0	1	0	0	12913	595	21	2	1490	2	PYGL	14	51382685	Nonsense_Mutation	SNP	C	TCGA-RY-A83Y-01A-11D-A36O-08		51382685	55966855	30	33553											
RASGRP1	10125	broad.mit.edu	37	15	38793398	38793398	+	Missense_Mutation	SNP	G	G	T			TCGA-RY-A83Y-01A-11D-A36O-08	TCGA-RY-A83Y-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd64d5e-ef83-4d59-afee-255bf044af2e	4a4dbfc4-a72d-4c24-ba49-b7ceb25c9b18	g.chr15:38793398G>T	ENST00000310803.5	-	13	1806	c.1629C>A	c.(1627-1629)aaC>aaA	p.N543K	RASGRP1_ENST00000450598.2_Missense_Mutation_p.N508K|RASGRP1_ENST00000539159.1_Missense_Mutation_p.N495K|RASGRP1_ENST00000558164.1_Missense_Mutation_p.N508K|RASGRP1_ENST00000559830.1_Missense_Mutation_p.N508K|RASGRP1_ENST00000561180.1_Missense_Mutation_p.N594K	NM_001128602.1|NM_005739.3	NP_001122074.1|NP_005730.2	O95267	GRP1_HUMAN	RAS guanyl releasing protein 1 (calcium and DAG-regulated)	543					cell differentiation|platelet activation|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol|endoplasmic reticulum membrane|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|lipid binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20		all_cancers(109;6.38e-17)|all_epithelial(112;5.51e-15)|Lung NSC(122;2.12e-11)|all_lung(180;5.63e-10)|Melanoma(134;0.0574)		GBM - Glioblastoma multiforme(113;1.97e-07)|BRCA - Breast invasive adenocarcinoma(123;0.00248)		TCTCTTGGAAGTTGTGAGGAA	0.522													25	34					4.72057e-08	4.72057e-08	1	1	0	T	38793398	G	T	38793398	3	4	403	1	0	0	0	0	1	0	0	0	13126	1020	36	4	784	4	RASGRP1	15	38793398	Missense_Mutation	SNP	G	TCGA-RY-A83Y-01A-11D-A36O-08		38793398	63737994	31	33554											
MAPKBP1	23005	broad.mit.edu	37	15	42107938	42107938	+	Silent	SNP	G	G	A	rs143874014		TCGA-RY-A83Y-01A-11D-A36O-08	TCGA-RY-A83Y-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd64d5e-ef83-4d59-afee-255bf044af2e	4a4dbfc4-a72d-4c24-ba49-b7ceb25c9b18	g.chr15:42107938G>A	ENST00000457542.2	+	12	1720	c.1434G>A	c.(1432-1434)tcG>tcA	p.S478S	MAPKBP1_ENST00000514566.1_Silent_p.S478S|MAPKBP1_ENST00000456763.2_Silent_p.S484S|MAPKBP1_ENST00000221214.6_Silent_p.S361S|MAPKBP1_ENST00000260357.7_Silent_p.S317S	NM_014994.2	NP_055809.2	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein 1	484										breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		GCATCCGCTCGGTGTGTGTCA	0.597													18	19					0	0	1	0	0	A	42107938	G	A	42107938	2	1	403	1	0	0	0	0	0	0	0	1	9342	1103	39	1		1	MAPKBP1	15	42107938	Silent	SNP	G	TCGA-RY-A83Y-01A-11D-A36O-08	3314540	42107938	60423454	32	33555											
PLA2G4E	123745	broad.mit.edu	37	15	42298316	42298316	+	Missense_Mutation	SNP	C	C	T			TCGA-RY-A83Y-01A-11D-A36O-08	TCGA-RY-A83Y-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd64d5e-ef83-4d59-afee-255bf044af2e	4a4dbfc4-a72d-4c24-ba49-b7ceb25c9b18	g.chr15:42298316C>T	ENST00000399518.3	-	4	883	c.397G>A	c.(397-399)Gtg>Atg	p.V133M	PLA2G4E_ENST00000413860.2_Missense_Mutation_p.V104M	NM_001206670.1	NP_001193599.1	Q3MJ16	PA24E_HUMAN	phospholipase A2, group IVE	115	C2.				phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|stomach(1)	16		all_cancers(109;8.09e-13)|all_epithelial(112;2.03e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.0273)		OV - Ovarian serous cystadenocarcinoma(18;7.61e-18)|GBM - Glioblastoma multiforme(94;3.07e-06)		AACTCTAGCACGTTCTAGGGG	0.507													25	39					0	0	1	0	0	T	42298316	C	T	42298316	3	4	403	1	0	0	0	0	1	0	0	0	12053	536	19	1	2277	1	PLA2G4E	15	42298316	Missense_Mutation	SNP	C	TCGA-RY-A83Y-01A-11D-A36O-08	190378	42298316	60233076	33	33556											
SEMA7A	8482	broad.mit.edu	37	15	74708176	74708176	+	Missense_Mutation	SNP	C	C	T			TCGA-RY-A83Y-01A-11D-A36O-08	TCGA-RY-A83Y-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd64d5e-ef83-4d59-afee-255bf044af2e	4a4dbfc4-a72d-4c24-ba49-b7ceb25c9b18	g.chr15:74708176C>T	ENST00000261918.4	-	8	1500	c.952G>A	c.(952-954)Gac>Aac	p.D318N	SEMA7A_ENST00000543145.2_Missense_Mutation_p.D304N|SEMA7A_ENST00000542748.1_Missense_Mutation_p.D153N	NM_003612.3	NP_003603.1	O75326	SEM7A_HUMAN	semaphorin 7A, GPI membrane anchor (John Milton Hagen blood group)	318	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						ACCCTGGTGTCCCTCCACTGG	0.592													8	22					0	0	1	0	0	T	74708176	C	T	74708176	3	4	403	1	0	0	0	0	1	0	0	0	14097	855	30	2	1076	2	SEMA7A	15	74708176	Missense_Mutation	SNP	C	TCGA-RY-A83Y-01A-11D-A36O-08	32409860	74708176	27823216	34	33557											
NTRK3	4916	broad.mit.edu	37	15	88576211	88576211	+	Missense_Mutation	SNP	T	T	C			TCGA-RY-A83Y-01A-11D-A36O-08	TCGA-RY-A83Y-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd64d5e-ef83-4d59-afee-255bf044af2e	4a4dbfc4-a72d-4c24-ba49-b7ceb25c9b18	g.chr15:88576211T>C	ENST00000394480.2	-	14	1783	c.1462A>G	c.(1462-1464)Atc>Gtc	p.I488V	NTRK3_ENST00000355254.2_Missense_Mutation_p.I488V|NTRK3_ENST00000317501.3_Missense_Mutation_p.I488V|NTRK3_ENST00000558676.1_Missense_Mutation_p.I480V|NTRK3_ENST00000542733.2_Missense_Mutation_p.I390V|NTRK3_ENST00000557856.1_Missense_Mutation_p.I480V|NTRK3_ENST00000357724.2_Missense_Mutation_p.I480V|NTRK3_ENST00000360948.2_Missense_Mutation_p.I488V|NTRK3_ENST00000558306.1_5'UTR|NTRK3_ENST00000540489.2_Missense_Mutation_p.I488V	NM_001243101.1|NM_002530.3	NP_001230030.1|NP_002521.2	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3						transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity		ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			GGCGTGGTGATGCCGTGGTTG	0.607			T	ETV6	"congenital fibrosarcoma, Secretory breast "					TSP Lung(13;0.10)			18	13					0	0	1	0	0	C	88576211	T	C	88576211	3	2	403	1	0	0	0	0	1	0	0	0	10756	1464	51	3	1347	3	NTRK3	15	88576211	Missense_Mutation	SNP	T	TCGA-RY-A83Y-01A-11D-A36O-08	13868035	88576211	13955181	35	33558											
OR1G1	8390	broad.mit.edu	37	17	3029996	3029996	+	Missense_Mutation	SNP	T	T	C			TCGA-RY-A83Y-01A-11D-A36O-08	TCGA-RY-A83Y-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd64d5e-ef83-4d59-afee-255bf044af2e	4a4dbfc4-a72d-4c24-ba49-b7ceb25c9b18	g.chr17:3029996T>C	ENST00000328890.2	-	1	879	c.850A>G	c.(850-852)Atg>Gtg	p.M284V		NM_003555.1	NP_003546.1	P47890	OR1G1_HUMAN	olfactory receptor, family 1, subfamily G, member 1	284					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(4)|lung(3)|skin(3)	11						GGATTCAACATTGGAGTTACC	0.428													4	63					0	0	1	0	0	C	3029996	T	C	3029996	3	2	403	1	0	0	0	0	1	0	0	0	11005	1493	52	3	95	3	OR1G1	17	3029996	Missense_Mutation	SNP	T	TCGA-RY-A83Y-01A-11D-A36O-08		3029996	78165214	36	33559											
KIAA0753	9851	broad.mit.edu	37	17	6524258	6524259	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-RY-A83Y-01A-11D-A36O-08	TCGA-RY-A83Y-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd64d5e-ef83-4d59-afee-255bf044af2e	4a4dbfc4-a72d-4c24-ba49-b7ceb25c9b18	g.chr17:6524258_6524259delCA	ENST00000361413.3	-	7	1522_1523	c.1164_1165delTG	c.(1162-1167)agtgaafs	p.SE388fs	KIAA0753_ENST00000542606.1_Frame_Shift_Del_p.SE89fs|KIAA0753_ENST00000572370.1_Frame_Shift_Del_p.SE89fs	NM_014804.2	NP_055619.2	Q2KHM9	K0753_HUMAN	KIAA0753	388						centrosome				endometrium(4)|large_intestine(11)|lung(5)|prostate(4)	24				COAD - Colon adenocarcinoma(228;0.157)		CTCCGAATTTCACTGAAACATT	0.441													43	79	---	---	---	---						-	6524259	CA	-	6524258	7	5	403	1	0	1	0	1	0	0	0	0	8233	835	29	0	1790	0	KIAA0753	17	6524258	Frame_Shift_Del	DEL	CA	TCGA-RY-A83Y-01A-11D-A36O-08	3494262	6524258	74670952	37	33560											
KLHL10	317719	broad.mit.edu	37	17	40001799	40001799	+	Missense_Mutation	SNP	T	T	C			TCGA-RY-A83Y-01A-11D-A36O-08	TCGA-RY-A83Y-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd64d5e-ef83-4d59-afee-255bf044af2e	4a4dbfc4-a72d-4c24-ba49-b7ceb25c9b18	g.chr17:40001799T>C	ENST00000293303.4	+	3	1259	c.1106T>C	c.(1105-1107)gTg>gCg	p.V369A		NM_152467.3	NP_689680.2	Q6JEL2	KLH10_HUMAN	kelch-like family member 10	369						cytoplasm				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	26		Breast(137;0.000162)				TGGCATCAGGTGGCCCCGATG	0.438													38	74					0	0	1	0	0	C	40001799	T	C	40001799	3	2	403	1	0	0	0	0	1	0	0	0	8409	1696	59	3	1116	3	KLHL10	17	40001799	Missense_Mutation	SNP	T	TCGA-RY-A83Y-01A-11D-A36O-08	33477541	40001799	41193411	38	33561											
SMARCD2	6603	broad.mit.edu	37	17	61911857	61911857	+	Missense_Mutation	SNP	G	G	A			TCGA-RY-A83Y-01A-11D-A36O-08	TCGA-RY-A83Y-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd64d5e-ef83-4d59-afee-255bf044af2e	4a4dbfc4-a72d-4c24-ba49-b7ceb25c9b18	g.chr17:61911857G>A	ENST00000448276.2	-	7	1163	c.898C>T	c.(898-900)Ctc>Ttc	p.L300F	SMARCD2_ENST00000225742.9_Missense_Mutation_p.L225F|SMARCD2_ENST00000323347.10_Missense_Mutation_p.L252F	NM_001098426.1	NP_001091896.1	Q92925	SMRD2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 2	300					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	SWI/SNF complex	protein binding|transcription coactivator activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(1)	8						ATGAGCAGGAGGGTGCACTTG	0.602											OREG0024642	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	41	83					0	0	1	0	0	A	61911857	G	A	61911857	3	1	403	1	0	0	0	0	1	0	0	0	14832	1000	35	2	725	2	SMARCD2	17	61911857	Missense_Mutation	SNP	G	TCGA-RY-A83Y-01A-11D-A36O-08	21910058	61911857	19283353	39	33562											
CASKIN2	57513	broad.mit.edu	37	17	73498194	73498194	+	Silent	SNP	T	T	C			TCGA-RY-A83Y-01A-11D-A36O-08	TCGA-RY-A83Y-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd64d5e-ef83-4d59-afee-255bf044af2e	4a4dbfc4-a72d-4c24-ba49-b7ceb25c9b18	g.chr17:73498194T>C	ENST00000321617.3	-	18	3547	c.2961A>G	c.(2959-2961)tcA>tcG	p.S987S	CASKIN2_ENST00000433559.2_Silent_p.S905S	NM_020753.3	NP_065804.2	Q8WXE0	CSKI2_HUMAN	CASK interacting protein 2	987	Pro-rich.					cytoplasm				endometrium(1)|kidney(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			TAACAGTGTCTGATTCCGTGA	0.677													18	22					0	0	1	0	0	C	73498194	T	C	73498194	2	2	403	1	0	0	0	0	0	0	0	1	2685	1567	55	3		3	CASKIN2	17	73498194	Silent	SNP	T	TCGA-RY-A83Y-01A-11D-A36O-08	11586337	73498194	7697016	40	33563											
CIC	23152	broad.mit.edu	37	19	42794540	42794550	+	Frame_Shift_Del	DEL	TTCCTCCTCAG	TTCCTCCTCAG	-			TCGA-RY-A83Y-01A-11D-A36O-08	TCGA-RY-A83Y-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd64d5e-ef83-4d59-afee-255bf044af2e	4a4dbfc4-a72d-4c24-ba49-b7ceb25c9b18	g.chr19:42794540_42794550delTTCCTCCTCAG	ENST00000572681.2	+	11	4415_4425	c.4347_4357delTTCCTCCTCAG	c.(4345-4359)gcttcctcctcagccfs	p.ASSSA1449fs	CIC_ENST00000575354.2_Frame_Shift_Del_p.ASSSA540fs|CIC_ENST00000160740.3_Frame_Shift_Del_p.ASSSA540fs			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	540					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CCTCGCCTGCTTCCTCCTCAGCCTCGGCAGC	0.687			"Mis, F, S"		oligodendroglioma								26	11	---	---	---	---						-	42794550	TTCCTCCTCAG	-	42794540	7	5	403	1	0	1	0	1	0	0	0	0	3446	1596	56	0	1658	0	CIC	19	42794540	Frame_Shift_Del	DEL	TTCCTCCTCAG	TCGA-RY-A83Y-01A-11D-A36O-08		42794540	16334443	41	33564											
FERMT1	55612	broad.mit.edu	37	20	6078223	6078223	+	Frame_Shift_Del	DEL	A	A	-			TCGA-RY-A83Y-01A-11D-A36O-08	TCGA-RY-A83Y-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd64d5e-ef83-4d59-afee-255bf044af2e	4a4dbfc4-a72d-4c24-ba49-b7ceb25c9b18	g.chr20:6078223delA	ENST00000217289.4	-	7	1693	c.905delT	c.(904-906)ttafs	p.L302fs	FERMT1_ENST00000536936.1_Frame_Shift_Del_p.L45fs	NM_017671.4	NP_060141.3	Q9BQL6	FERM1_HUMAN	fermitin family member 1	302	FERM.				cell adhesion|establishment of epithelial cell polarity|keratinocyte migration|keratinocyte proliferation	cytosol|focal adhesion|ruffle membrane	binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	17						AATTTCTTCTAAGAGAATGGC	0.403													43	54	---	---	---	---						-	6078223	A	-	6078223	7	5	403	1	0	1	0	1	0	0	0	0	5850	372	13	0	1164	0	FERMT1	20	6078223	Frame_Shift_Del	DEL	A	TCGA-RY-A83Y-01A-11D-A36O-08		6078223	56947297	42	33565											
CPXCR1	53336	broad.mit.edu	37	X	88008826	88008826	+	Silent	SNP	A	A	G			TCGA-RY-A83Y-01A-11D-A36O-08	TCGA-RY-A83Y-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd64d5e-ef83-4d59-afee-255bf044af2e	4a4dbfc4-a72d-4c24-ba49-b7ceb25c9b18	g.chrX:88008826A>G	ENST00000276127.4	+	3	670	c.411A>G	c.(409-411)tcA>tcG	p.S137S	CPXCR1_ENST00000373111.1_Silent_p.S137S	NM_033048.5	NP_149037	Q8N123	CPXCR_HUMAN	CPX chromosome region, candidate 1	137						intracellular	zinc ion binding			NS(1)|cervix(1)|kidney(1)|large_intestine(11)|liver(1)|lung(20)|ovary(3)|upper_aerodigestive_tract(2)	40						TTTCAACTTCATGGAGAGTCC	0.388													26	9					0	0	1	0	0	G	88008826	A	G	88008826	2	3	403	1	0	0	0	0	0	0	0	1	3859	204	8	3		3	CPXCR1	23	88008826	Silent	SNP	A	TCGA-RY-A83Y-01A-11D-A36O-08		88008826	67261734	43	33566											
USP24	23358	broad.mit.edu	37	1	55561033	55561033	+	Missense_Mutation	SNP	T	T	G			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr1:55561033T>G	ENST00000294383.6	-	51	6097	c.6098A>C	c.(6097-6099)aAt>aCt	p.N2033T	USP24_ENST00000407756.1_Missense_Mutation_p.N1873T	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN	ubiquitin specific peptidase 24	2033					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						CATATAGGCATTCCAGTATCT	0.403													8	11					0	0	1	0	0	G	55561033	T	G	55561033	3	3	404	1	0	0	0	0	1	0	0	0	17115	1493	52	4	1836	4	USP24	1	55561033	Missense_Mutation	SNP	T	TCGA-RY-A83Z-01A-11D-A36O-08		55561033	193689588	1	33567											
BCL9	607	broad.mit.edu	37	1	147091170	147091170	+	Missense_Mutation	SNP	A	A	C			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr1:147091170A>C	ENST00000234739.3	+	8	1949	c.1209A>C	c.(1207-1209)gaA>gaC	p.E403D		NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	403	Pro-rich.				Wnt receptor signaling pathway	nucleus	protein binding			breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					AAAAACCAGAAGGGCCAATAC	0.542			T	"IGH@, IGL@"	B-ALL								31	51					0	0	1	0	0	C	147091170	A	C	147091170	3	2	404	1	0	0	0	0	1	0	0	0	1379	69	3	5	1227	5	BCL9	1	147091170	Missense_Mutation	SNP	A	TCGA-RY-A83Z-01A-11D-A36O-08	91530137	147091170	102159451	2	33568											
CR1	1378	broad.mit.edu	37	1	207741294	207741294	+	Missense_Mutation	SNP	T	T	C			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr1:207741294T>C	ENST00000367049.4	+	25	4078	c.4078T>C	c.(4078-4080)Ttc>Ctc	p.F1360L	CR1_ENST00000367052.1_Intron|RP11-78B10.2_ENST00000597497.1_RNA|CR1_ENST00000367051.1_Missense_Mutation_p.F910L|CR1_ENST00000400960.2_Missense_Mutation_p.F910L|CR1_ENST00000367053.1_Missense_Mutation_p.F910L	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	910	Sushi 21.				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						AGGGACGAGCTTCGACCTCAT	0.532													46	98					0	0	1	0	0	C	207741294	T	C	207741294	3	2	404	1	0	0	0	0	1	0	0	0	3863	1609	56	3	4176	3	CR1	1	207741294	Missense_Mutation	SNP	T	TCGA-RY-A83Z-01A-11D-A36O-08	60650124	207741294	41509327	3	33569											
ADRA2B	151	broad.mit.edu	37	2	96780731	96780733	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr2:96780731_96780733delGAA	ENST00000409345.3	-	1	1251_1253	c.1156_1158delTTC	c.(1156-1158)ttcdel	p.F386del		NM_000682.5	NP_000673	P18089	ADA2B_HUMAN	adrenoceptor alpha 2B	389					activation of MAPK activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cell-cell signaling|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|negative regulation of epinephrine secretion|negative regulation of norepinephrine secretion|positive regulation of neuron differentiation	integral to plasma membrane	alpha2-adrenergic receptor activity|epinephrine binding|protein binding			endometrium(2)|large_intestine(2)|lung(9)|ovary(3)	16					Bethanidine(DB00217)|Brimonidine(DB00484)|Debrisoquin(DB04840)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Lofexidine(DB04948)|Norepinephrine(DB00368)|Yohimbine(DB01392)	GGCTGTAGCTGAAGAAGAAGGGG	0.596													12	17	---	---	---	---						-	96780733	GAA	-	96780731	7	5	404	1	0	1	0	1	0	0	0	0	337	1281	45	0	189	0	ADRA2B	2	96780731	In_Frame_Del	DEL	GAA	TCGA-RY-A83Z-01A-11D-A36O-08		96780731	146418642	4	33570											
TTN	7273	broad.mit.edu	37	2	179400060	179400060	+	Missense_Mutation	SNP	C	C	T			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr2:179400060C>T	ENST00000589042.1	-	358	101506	c.101282G>A	c.(101281-101283)cGg>cAg	p.R33761Q	TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R24888Q|TTN_ENST00000591111.1_Missense_Mutation_p.R32120Q|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R31193Q|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R24821Q|TTN-AS1_ENST00000589434.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R24696Q|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592750.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	32120							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.R31191L(1)|p.R24696L(1)|p.R31193L(1)|p.R24821L(1)|p.R24888L(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGCTATTACCCGGAACTGGTA	0.418													6	138					0	0	1	0	0	T	179400060	C	T	179400060	3	4	404	1	0	0	0	0	1	0	0	0	16797	652	23	1	6717	1	TTN	2	179400060	Missense_Mutation	SNP	C	TCGA-RY-A83Z-01A-11D-A36O-08	82619329	179400060	63799313	5	33571											
TTN	7273	broad.mit.edu	37	2	179437479	179437479	+	Silent	SNP	C	C	G			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr2:179437479C>G	ENST00000589042.1	-	326	73604	c.73380G>C	c.(73378-73380)gtG>gtC	p.V24460V	TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Silent_p.V15587V|TTN_ENST00000591111.1_Silent_p.V22819V|TTN_ENST00000342992.6_Silent_p.V21892V|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Silent_p.V15520V|TTN_ENST00000460472.2_Silent_p.V15395V|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592750.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	22819	Fibronectin type-III 78.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGGCCCACTTCACCTCAGGTG	0.463													5	88					0	0	1	0	0	G	179437479	C	G	179437479	2	3	404	1	0	0	0	0	0	0	0	1	16797	813	29	5		5	TTN	2	179437479	Silent	SNP	C	TCGA-RY-A83Z-01A-11D-A36O-08	37419	179437479	63761894	6	33572											
FSIP2	401024	broad.mit.edu	37	2	186670584	186670584	+	Silent	SNP	A	A	G			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr2:186670584A>G	ENST00000343098.5	+	17	16818	c.16818A>G	c.(16816-16818)aaA>aaG	p.K5606K	FSIP2_ENST00000424728.1_Silent_p.K5517K	NM_173651.2	NP_775922.2			fibrous sheath interacting protein 2											NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						TGACAAATAAAAAGGAAGTGG	0.348													26	38					0	0	1	0	0	G	186670584	A	G	186670584	2	3	404	1	0	0	0	0	0	0	0	1	6110	11	1	3		3	FSIP2	2	186670584	Silent	SNP	A	TCGA-RY-A83Z-01A-11D-A36O-08	7233105	186670584	56528789	7	33573											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	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	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								35	61					0	0	1	0	0	T	209113112	C	T	209113112	3	4	404	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-RY-A83Z-01A-11D-A36O-08	22442528	209113112	34086261	8	33574											
FANCD2	2177	broad.mit.edu	37	3	10134979	10134979	+	Missense_Mutation	SNP	G	G	A			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr3:10134979G>A	ENST00000287647.3	+	39	3953	c.3860G>A	c.(3859-3861)aGt>aAt	p.S1287N	FANCD2OS_ENST00000436517.1_Intron|FANCD2OS_ENST00000524279.1_Intron|FANCD2_ENST00000383806.1_3'UTR|FANCD2_ENST00000419585.1_Missense_Mutation_p.S1287N|FANCD2_ENST00000383807.1_Missense_Mutation_p.S1287N	NM_033084.3	NP_149075.2	Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	1287					DNA repair|response to gamma radiation	nucleoplasm	protein binding	p.S1287I(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		GTATTTGATAGTCATCCTGTT	0.478			"D, Mis, N, F"			"AML, leukemia"		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				37	61					0	0	1	0	0	A	10134979	G	A	10134979	3	1	404	1	0	0	0	0	1	0	0	0	5698	1029	36	2	4010	2	FANCD2	3	10134979	Missense_Mutation	SNP	G	TCGA-RY-A83Z-01A-11D-A36O-08		10134979	187887451	9	33575											
SH3TC1	54436	broad.mit.edu	37	4	8228808	8228808	+	Missense_Mutation	SNP	C	C	T			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr4:8228808C>T	ENST00000539824.1	+	12	1533	c.1159C>T	c.(1159-1161)Cca>Tca	p.P387S	SH3TC1_ENST00000514274.1_3'UTR|SH3TC1_ENST00000245105.3_Missense_Mutation_p.P463S			Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	463							binding			NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						CCCCCAGGAGCCAGCGTCCTG	0.617													15	27					0	0	1	0	0	T	8228808	C	T	8228808	3	4	404	1	0	0	0	0	1	0	0	0	14316	739	26	2	1429	2	SH3TC1	4	8228808	Missense_Mutation	SNP	C	TCGA-RY-A83Z-01A-11D-A36O-08		8228808	182925468	10	33576											
UGT2B7	7364	broad.mit.edu	37	4	69962277	69962277	+	Silent	SNP	A	A	G			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr4:69962277A>G	ENST00000305231.7	+	1	85	c.39A>G	c.(37-39)caA>caG	p.Q13Q	UGT2B7_ENST00000509763.1_Intron|UGT2B7_ENST00000508661.1_Silent_p.Q13Q	NM_001074.2	NP_001065.2	P16662	UD2B7_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B7	13					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TGCTAATACAACTGAGCTTTT	0.413													4	106					0	0	1	0	0	G	69962277	A	G	69962277	2	3	404	1	0	0	0	0	0	0	0	1	17022	40	2	3		3	UGT2B7	4	69962277	Silent	SNP	A	TCGA-RY-A83Z-01A-11D-A36O-08	61733469	69962277	121191999	11	33577											
ADAD1	132612	broad.mit.edu	37	4	123301233	123301233	+	Missense_Mutation	SNP	C	C	A			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr4:123301233C>A	ENST00000296513.2	+	3	194	c.9C>A	c.(7-9)agC>agA	p.S3R	ADAD1_ENST00000388725.2_Intron|ADAD1_ENST00000388724.2_Missense_Mutation_p.S3R	NM_139243.3	NP_640336.1	Q96M93	ADAD1_HUMAN	adenosine deaminase domain containing 1 (testis-specific)	3					multicellular organismal development|RNA processing	nucleus	adenosine deaminase activity|double-stranded RNA binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	35						AAATGGCTAGCAACAATCATT	0.448													11	19					0.000151284	0.000153199	1	1	0	A	123301233	C	A	123301233	3	1	404	1	0	0	0	0	1	0	0	0	230	709	25	5	11	5	ADAD1	4	123301233	Missense_Mutation	SNP	C	TCGA-RY-A83Z-01A-11D-A36O-08	53338956	123301233	67853043	12	33578											
IL31RA	133396	broad.mit.edu	37	5	55212675	55212675	+	Silent	SNP	C	C	T	rs140132589	byFrequency	TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr5:55212675C>T	ENST00000447346.2	+	15	2087	c.2022C>T	c.(2020-2022)tgC>tgT	p.C674C	IL31RA_ENST00000359040.5_Intron|IL31RA_ENST00000396834.1_Intron|IL31RA_ENST00000490985.1_Silent_p.C532C|IL31RA_ENST00000354961.4_Intron	NM_001242636.1|NM_139017.5	NP_001229565.1|NP_620586.3	Q8NI17	IL31R_HUMAN	interleukin 31 receptor A	642					anti-apoptosis|defense response|homeostatic process|JAK-STAT cascade|macrophage differentiation|MAPKKK cascade|monocyte differentiation|negative regulation of macrophage activation|positive regulation of cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|transmembrane receptor protein tyrosine kinase signaling pathway	integral to membrane|plasma membrane	cytokine receptor activity|protein kinase binding|transcription coactivator activity			endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)	21		Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223)				ATGTGACCTGCCCCTTCAGGC	0.483													18	24					0	0	1	0	0	T	55212675	C	T	55212675	2	4	404	1	0	0	0	0	0	0	0	1	7735	747	26	2		2	IL31RA	5	55212675	Silent	SNP	C	TCGA-RY-A83Z-01A-11D-A36O-08		55212675	125702585	13	33579											
FAT2	2196	broad.mit.edu	37	5	150885459	150885459	+	Silent	SNP	G	G	A			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr5:150885459G>A	ENST00000261800.5	-	23	12729	c.12717C>T	c.(12715-12717)ctC>ctT	p.L4239L		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	4239					epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AACGGGGTGGGAGAGGTGCCC	0.627													4	111					0	0	1	0	0	A	150885459	G	A	150885459	2	1	404	1	0	0	0	0	0	0	0	1	5723	1161	41	2		2	FAT2	5	150885459	Silent	SNP	G	TCGA-RY-A83Z-01A-11D-A36O-08	95672784	150885459	30029801	14	33580											
SLC17A2	10246	broad.mit.edu	37	6	25921320	25921320	+	Splice_Site	SNP	C	C	A			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr6:25921320C>A	ENST00000377850.3	-	5	1000	c.476G>T	c.(475-477)gGa>gTa	p.G159V	SLC17A2_ENST00000265425.3_Splice_Site_p.G159V|SLC17A2_ENST00000360488.3_Splice_Site_p.G159V			O00624	NPT3_HUMAN	solute carrier family 17, member 2	159					phosphate metabolic process	integral to plasma membrane|membrane fraction	sodium:phosphate symporter activity			endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	31						CCATGCCATTCCCTGAAATGA	0.448													16	22					6.72482e-11	7.07876e-11	1	1	0	A	25921320	C	A	25921320	5	1	404	1	0	0	0	0	0	0	1	0	14472	869	30	5	862	5	SLC17A2	6	25921320	Splice_Site	SNP	C	TCGA-RY-A83Z-01A-11D-A36O-08		25921320	145193747	15	33581											
C4A	720	broad.mit.edu	37	6	31963505	31963505	+	Missense_Mutation	SNP	G	G	A	rs143990092		TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr6:31963505G>A	ENST00000428956.2	+	25	3248	c.3164G>A	c.(3163-3165)cGg>cAg	p.R1055Q	C4A_ENST00000498271.1_Missense_Mutation_p.R1055Q	NM_007293.2	NP_009224.2			complement component 4A (Rodgers blood group)																		GGCTACATGCGGATCCAGCAG	0.607													5	66					0	0	1	0	0	A	31963505	G	A	31963505	3	1	404	1	0	0	0	0	1	0	0	0	2262	1116	39	1	3262	1	C4A	6	31963505	Missense_Mutation	SNP	G	TCGA-RY-A83Z-01A-11D-A36O-08	6042185	31963505	139151562	16	33582											
PAQR8	85315	broad.mit.edu	37	6	52268814	52268814	+	Missense_Mutation	SNP	A	A	G			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr6:52268814A>G	ENST00000442253.2	+	2	977	c.803A>G	c.(802-804)gAg>gGg	p.E268G	PAQR8_ENST00000360726.3_Missense_Mutation_p.E268G	NM_133367.4	NP_588608.1	Q8TEZ7	MPRB_HUMAN	progestin and adipoQ receptor family member VIII	268					cell differentiation|multicellular organismal development|oogenesis	integral to membrane|plasma membrane	receptor activity|steroid binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|urinary_tract(2)	17	Lung NSC(77;0.0875)					CCCGTGCCTGAGAAGTACTTC	0.572													37	39					0	0	1	0	0	G	52268814	A	G	52268814	3	3	404	1	0	0	0	0	1	0	0	0	11488	304	11	3	805	3	PAQR8	6	52268814	Missense_Mutation	SNP	A	TCGA-RY-A83Z-01A-11D-A36O-08	20305309	52268814	118846253	17	33583											
PLG	5340	broad.mit.edu	37	6	161152785	161152786	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr6:161152785_161152786delTT	ENST00000308192.9	+	12	1510_1511	c.1447_1448delTT	c.(1447-1449)tttfs	p.F483fs		NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	483	Kringle 5.				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	AGACTGTATGTTTGGGAATGGG	0.495													28	50	---	---	---	---						-	161152786	TT	-	161152785	7	5	404	1	0	1	0	1	0	0	0	0	12134	1725	60	0	1497	0	PLG	6	161152785	Frame_Shift_Del	DEL	TT	TCGA-RY-A83Z-01A-11D-A36O-08	108883971	161152785	9962282	18	33584											
MAP3K4	4216	broad.mit.edu	37	6	161469730	161469730	+	Silent	SNP	G	G	A			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr6:161469730G>A	ENST00000392142.4	+	3	574	c.426G>A	c.(424-426)caG>caA	p.Q142Q	MAP3K4_ENST00000348824.7_Silent_p.Q142Q|MAP3K4_ENST00000366920.2_Silent_p.Q142Q|MAP3K4_ENST00000446500.1_3'UTR|MAP3K4_ENST00000366919.2_Silent_p.Q142Q	NM_005922.2	NP_005913	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	142					activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		GCTATAAGCAGGAGAAAAAGA	0.373													27	36					0	0	1	0	0	A	161469730	G	A	161469730	2	1	404	1	0	0	0	0	0	0	0	1	9302	991	35	2		2	MAP3K4	6	161469730	Silent	SNP	G	TCGA-RY-A83Z-01A-11D-A36O-08	316945	161469730	9645337	19	33585											
OSBPL3	26031	broad.mit.edu	37	7	24843938	24843938	+	Missense_Mutation	SNP	A	A	G			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr7:24843938A>G	ENST00000313367.2	-	22	3014	c.2563T>C	c.(2563-2565)Ttc>Ctc	p.F855L	OSBPL3_ENST00000409069.1_Missense_Mutation_p.F788L|OSBPL3_ENST00000431825.2_Missense_Mutation_p.F788L|OSBPL3_ENST00000487020.1_5'UTR|OSBPL3_ENST00000396431.1_Missense_Mutation_p.F824L|OSBPL3_ENST00000396429.1_Missense_Mutation_p.F819L|OSBPL3_ENST00000352860.1_Missense_Mutation_p.F824L|OSBPL3_ENST00000353930.1_Missense_Mutation_p.F819L	NM_015550.2	NP_056365.1	Q9H4L5	OSBL3_HUMAN	oxysterol binding protein-like 3	855					lipid transport		lipid binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1)	43						ACGAACCTGAAAAACCGAGGC	0.463													41	51					0	0	1	0	0	G	24843938	A	G	24843938	3	3	404	1	0	0	0	0	1	0	0	0	11326	14	1	3	108	3	OSBPL3	7	24843938	Missense_Mutation	SNP	A	TCGA-RY-A83Z-01A-11D-A36O-08		24843938	134294725	20	33586											
SUN3	256979	broad.mit.edu	37	7	48068665	48068665	+	Translation_Start_Site	SNP	C	C	T			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr7:48068665C>T	ENST00000297325.4	-	0	30				SUN3_ENST00000412142.1_De_novo_Start_OutOfFrame|SUN3_ENST00000395572.2_De_novo_Start_OutOfFrame	NM_001030019.1	NP_001025190.1	Q8TAQ9	SUN3_HUMAN	Sad1 and UNC84 domain containing 3							integral to membrane				central_nervous_system(1)|endometrium(3)|large_intestine(8)|liver(1)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TCTTCCTCCACGGGTGTTTCT	0.398													6	4					0	0	1	0	0	T	48068665	C	T	48068665	1	4	404	1	0	0	0	0	0	0	0	0	15449	551	19	1		1	SUN3	7	48068665	Translation_Start_Site	SNP	C	TCGA-RY-A83Z-01A-11D-A36O-08	23224727	48068665	111069998	21	33587											
RELN	5649	broad.mit.edu	37	7	103234846	103234846	+	Silent	SNP	C	C	T			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr7:103234846C>T	ENST00000428762.1	-	26	3792	c.3633G>A	c.(3631-3633)caG>caA	p.Q1211Q	RELN_ENST00000343529.5_Silent_p.Q1211Q|RELN_ENST00000424685.2_Silent_p.Q1211Q	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	1211					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CGACTGCCCACTGGTCATAGT	0.507													10	264					0	0	1	0	0	T	103234846	C	T	103234846	2	4	404	1	0	0	0	0	0	0	0	1	13272	564	20	2		2	RELN	7	103234846	Silent	SNP	C	TCGA-RY-A83Z-01A-11D-A36O-08	55166181	103234846	55903817	22	33588											
TES	26136	broad.mit.edu	37	7	115891827	115891827	+	Missense_Mutation	SNP	G	G	A			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr7:115891827G>A	ENST00000358204.4	+	5	931	c.716G>A	c.(715-717)tGc>tAc	p.C239Y	AC073130.3_ENST00000444244.1_RNA|AC002066.1_ENST00000446355.2_RNA|TES_ENST00000537767.1_5'UTR|TES_ENST00000393481.2_Missense_Mutation_p.C230Y	NM_015641.3	NP_056456.1	Q9UGI8	TES_HUMAN	testis derived transcript (3 LIM domains)	239	LIM zinc-binding 1.				negative regulation of cell proliferation	cytoplasm|focal adhesion|nucleus|protein complex	zinc ion binding			endometrium(4)|large_intestine(4)|lung(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	12	Lung NSC(10;0.0137)|all_lung(10;0.0148)	Breast(660;0.0602)	STAD - Stomach adenocarcinoma(10;0.00878)			TGCTATTGCTGCAAACTGAGT	0.438													4	123					0	0	1	0	0	A	115891827	G	A	115891827	3	1	404	1	0	0	0	0	1	0	0	0	15824	1319	46	2	734	2	TES	7	115891827	Missense_Mutation	SNP	G	TCGA-RY-A83Z-01A-11D-A36O-08	12656981	115891827	43246836	23	33589											
ADAM28	10863	broad.mit.edu	37	8	24187604	24187604	+	Missense_Mutation	SNP	T	T	C			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr8:24187604T>C	ENST00000265769.4	+	11	1189	c.1079T>C	c.(1078-1080)aTa>aCa	p.I360T	RP11-624C23.1_ENST00000518988.1_RNA|RP11-624C23.1_ENST00000523700.1_RNA|ADAM28_ENST00000397649.3_Missense_Mutation_p.I107T|RP11-624C23.1_ENST00000519689.1_RNA|ADAM28_ENST00000437154.2_Missense_Mutation_p.I360T|RP11-624C23.1_ENST00000523578.1_RNA|ADAM28_ENST00000518516.1_3'UTR|ADAM28_ENST00000540823.1_Missense_Mutation_p.I127T	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28	360	Peptidase M12B.				proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		CCTTCTACAATATGTGTGATG	0.473													6	61					0	0	1	0	0	C	24187604	T	C	24187604	3	2	404	1	0	0	0	0	1	0	0	0	245	1406	49	3	1121	3	ADAM28	8	24187604	Missense_Mutation	SNP	T	TCGA-RY-A83Z-01A-11D-A36O-08		24187604	122176418	24	33590											
XKR9	389668	broad.mit.edu	37	8	71619293	71619293	+	Missense_Mutation	SNP	T	T	A			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr8:71619293T>A	ENST00000408926.3	+	4	932	c.398T>A	c.(397-399)aTg>aAg	p.M133K	XKR9_ENST00000520030.1_Missense_Mutation_p.M133K|XKR9_ENST00000520273.1_3'UTR	NM_001011720.1	NP_001011720.1	Q5GH70	XKR9_HUMAN	XK, Kell blood group complex subunit-related family, member 9	133						integral to membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(4)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19	Breast(64;0.0716)		Epithelial(68;0.00301)|all cancers(69;0.0165)|OV - Ovarian serous cystadenocarcinoma(28;0.0524)|BRCA - Breast invasive adenocarcinoma(89;0.166)			GATTTGAGCATGCTCAGACTA	0.388													37	64					0	0	1	0	0	A	71619293	T	A	71619293	3	1	404	1	0	0	0	0	1	0	0	0	17498	1464	51	4	404	4	XKR9	8	71619293	Missense_Mutation	SNP	T	TCGA-RY-A83Z-01A-11D-A36O-08	47431689	71619293	74744729	25	33591											
DNAJA1	3301	broad.mit.edu	37	9	33037066	33037066	+	Missense_Mutation	SNP	A	A	G	rs144405670		TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr9:33037066A>G	ENST00000330899.4	+	8	1111	c.928A>G	c.(928-930)Att>Gtt	p.I310V	DNAJA1_ENST00000495015.1_3'UTR|DNAJA1_ENST00000544625.1_Missense_Mutation_p.I153V	NM_001539.2	NP_001530.1	P31689	DNJA1_HUMAN	DnaJ (Hsp40) homolog, subfamily A, member 1	310					protein folding|response to heat|response to unfolded protein	membrane	ATP binding|heat shock protein binding|low-density lipoprotein particle receptor binding|metal ion binding|unfolded protein binding			large_intestine(2)|ovary(1)|skin(3)	6			LUSC - Lung squamous cell carcinoma(29;0.0227)	GBM - Glioblastoma multiforme(74;0.102)		AGGCATGCCAATTTATCGTAG	0.348													28	4					0	0	1	0	0	G	33037066	A	G	33037066	3	3	404	1	0	0	0	0	1	0	0	0	4638	101	4	3	954	3	DNAJA1	9	33037066	Missense_Mutation	SNP	A	TCGA-RY-A83Z-01A-11D-A36O-08		33037066	108176365	26	33592											
RC3H2	54542	broad.mit.edu	37	9	125639774	125639774	+	Missense_Mutation	SNP	G	G	A			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr9:125639774G>A	ENST00000373670.1	-	8	1901	c.1301C>T	c.(1300-1302)gCc>gTc	p.A434V	RC3H2_ENST00000423239.2_Missense_Mutation_p.A434V|RC3H2_ENST00000373665.2_Missense_Mutation_p.A434V|RC3H2_ENST00000335387.5_Missense_Mutation_p.A434V|RC3H2_ENST00000357244.2_Missense_Mutation_p.A434V			Q9HBD1	RC3H2_HUMAN	ring finger and CCCH-type domains 2	434						cell surface|endomembrane system|membrane|membrane fraction|perinuclear region of cytoplasm	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(6)|large_intestine(4)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						CTGAGAATGGGCAAATGTACA	0.393													4	211					0	0	1	0	0	A	125639774	G	A	125639774	3	1	404	1	0	0	0	0	1	0	0	0	13219	1203	42	2	2404	2	RC3H2	9	125639774	Missense_Mutation	SNP	G	TCGA-RY-A83Z-01A-11D-A36O-08	92602708	125639774	15573657	27	33593											
MYO3A	53904	broad.mit.edu	37	10	26463168	26463168	+	Silent	SNP	T	T	A			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr10:26463168T>A	ENST00000265944.5	+	30	4141	c.3975T>A	c.(3973-3975)cgT>cgA	p.R1325R	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	1325					protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						GCAGAGGCCGTCTGAGGCATG	0.483													6	93					0	0	1	0	0	A	26463168	T	A	26463168	2	1	404	1	0	0	0	0	0	0	0	1	10124	1654	58	5		5	MYO3A	10	26463168	Silent	SNP	T	TCGA-RY-A83Z-01A-11D-A36O-08		26463168	109071579	28	33594											
OR8H1	219469	broad.mit.edu	37	11	56058377	56058377	+	Silent	SNP	C	C	T			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr11:56058377C>T	ENST00000313022.2	-	1	189	c.162G>A	c.(160-162)caG>caA	p.Q54Q		NM_001005199.1	NP_001005199.1	Q8NGG4	OR8H1_HUMAN	olfactory receptor, family 8, subfamily H, member 1	54					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Esophageal squamous(21;0.00448)					GAGTGTGAAGCTGGAGGTCCA	0.413													111	119					0	0	1	0	0	T	56058377	C	T	56058377	2	4	404	1	0	0	0	0	0	0	0	1	11284	796	28	2		2	OR8H1	11	56058377	Silent	SNP	C	TCGA-RY-A83Z-01A-11D-A36O-08		56058377	78948139	29	33595											
NADSYN1	55191	broad.mit.edu	37	11	71208529	71208529	+	Splice_Site	SNP	G	G	C			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr11:71208529G>C	ENST00000319023.2	+	19	1953	c.1765G>C	c.(1765-1767)Gaa>Caa	p.E589Q	NADSYN1_ENST00000530055.1_Splice_Site_p.E218Q|NADSYN1_ENST00000539574.1_Splice_Site_p.E329Q	NM_018161.4	NP_060631.2	Q6IA69	NADE_HUMAN	NAD synthetase 1	589	Ligase (By similarity).				NAD biosynthetic process|water-soluble vitamin metabolic process	cytosol	ATP binding|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds|NAD+ synthase (glutamine-hydrolyzing) activity|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	25					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	TTGTGCACAGGAAGATATGGG	0.517													3	41					0	0	1	0	0	C	71208529	G	C	71208529	5	2	404	1	0	0	0	0	0	0	1	0	10186	1188	41	5	1839	5	NADSYN1	11	71208529	Splice_Site	SNP	G	TCGA-RY-A83Z-01A-11D-A36O-08	15150152	71208529	63797987	30	33596											
LRRC32	2615	broad.mit.edu	37	11	76372296	76372296	+	Missense_Mutation	SNP	G	G	A			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr11:76372296G>A	ENST00000407242.2	-	3	583	c.341C>T	c.(340-342)gCg>gTg	p.A114V	LRRC32_ENST00000404995.1_Missense_Mutation_p.A114V|LRRC32_ENST00000260061.5_Missense_Mutation_p.A114V|AP001189.4_ENST00000447519.1_RNA|LRRC32_ENST00000464145.1_Intron	NM_005512.2	NP_005503.1	Q14392	LRC32_HUMAN	leucine rich repeat containing 32	114						integral to plasma membrane		p.A114E(1)		endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1)	31						AGCACTCAGCGCAGTGGCCAT	0.677													22	30					0	0	1	0	0	A	76372296	G	A	76372296	3	1	404	1	0	0	0	0	1	0	0	0	9032	1087	38	1	1651	1	LRRC32	11	76372296	Missense_Mutation	SNP	G	TCGA-RY-A83Z-01A-11D-A36O-08	5163767	76372296	58634220	31	33597											
KRT8	3856	broad.mit.edu	37	12	53292607	53292607	+	Missense_Mutation	SNP	A	A	G			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr12:53292607A>G	ENST00000552551.1	-	7	1490	c.1058T>C	c.(1057-1059)tTg>tCg	p.L353S	KRT8_ENST00000293308.6_Missense_Mutation_p.L353S|KRT8_ENST00000546897.1_Missense_Mutation_p.L353S|KRT8_ENST00000552150.1_Missense_Mutation_p.L381S			P05787	K2C8_HUMAN	keratin 8	353	Coil 2.|Necessary for interaction with PNN.|Rod.				cytoskeleton organization|interspecies interaction between organisms	cytoplasm|keratin filament|nuclear matrix|nucleoplasm	protein binding|structural molecule activity			endometrium(5)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	13				BRCA - Breast invasive adenocarcinoma(357;0.108)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CAGCTCGGACAACTTGGCGTT	0.637													4	76					0	0	1	0	0	G	53292607	A	G	53292607	3	3	404	1	0	0	0	0	1	0	0	0	8536	131	5	3	405	3	KRT8	12	53292607	Missense_Mutation	SNP	A	TCGA-RY-A83Z-01A-11D-A36O-08		53292607	80559288	32	33598											
DGKA	1606	broad.mit.edu	37	12	56347145	56347145	+	Frame_Shift_Del	DEL	C	C	-			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr12:56347145delC	ENST00000331886.5	+	23	2529	c.2075delC	c.(2074-2076)accfs	p.T692fs	DGKA_ENST00000394147.1_Frame_Shift_Del_p.T692fs|DGKA_ENST00000551156.1_Frame_Shift_Del_p.T692fs|DGKA_ENST00000549079.2_3'UTR	NM_001345.4	NP_001336.2	P23743	DGKA_HUMAN	diacylglycerol kinase, alpha 80kDa	692					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity			breast(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(4)|pancreas(1)|skin(3)|urinary_tract(1)	25					Vitamin E(DB00163)	ACCACAAAAACCCTTCCCATG	0.463													143	179	---	---	---	---						-	56347145	C	-	56347145	7	5	404	1	0	1	0	1	0	0	0	0	4493	507	18	0	2161	0	DGKA	12	56347145	Frame_Shift_Del	DEL	C	TCGA-RY-A83Z-01A-11D-A36O-08	3054538	56347145	77504750	33	33599											
TIMELESS	8914	broad.mit.edu	37	12	56811559	56811559	+	Missense_Mutation	SNP	C	C	T			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr12:56811559C>T	ENST00000229201.4	-	29	3719	c.3565G>A	c.(3565-3567)Gga>Aga	p.G1189R	TIMELESS_ENST00000553532.1_Missense_Mutation_p.G1190R|TIMELESS_ENST00000554616.1_Missense_Mutation_p.G687R	NM_003920.3	NP_003911.2	Q9UNS1	TIM_HUMAN	timeless circadian clock	1190					cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent	nuclear chromatin				NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						CCTGGAGCTCCCAACTCTGGT	0.453													33	37					0	0	1	0	0	T	56811559	C	T	56811559	3	4	404	1	0	0	0	0	1	0	0	0	15964	632	22	2	62	2	TIMELESS	12	56811559	Missense_Mutation	SNP	C	TCGA-RY-A83Z-01A-11D-A36O-08	464414	56811559	77040336	34	33600											
KCNMB4	27345	broad.mit.edu	37	12	70824293	70824294	+	In_Frame_Ins	INS	-	-	ATGATG			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr12:70824293_70824294insATGATG	ENST00000258111.4	+	3	952_953	c.493_494insATGATG	c.(493-495)cat>cATGATGat	p.165_166insDD		NM_014505.5	NP_055320.4	Q86W47	KCMB4_HUMAN	potassium large conductance calcium-activated channel, subfamily M, beta member 4	165					detection of calcium ion|platelet activation|regulation of action potential in neuron|regulation of neurotransmitter secretion|regulation of vasoconstriction|synaptic transmission	voltage-gated potassium channel complex	calcium-activated potassium channel activity|protein binding			kidney(1)|large_intestine(4)|lung(5)	10	Renal(347;0.236)		Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118)			GCATCGCACTCATGATGAGATT	0.49													39	83	---	---	---	---						ATGATG	70824294	-	ATGATG	70824293	7	5	404	1	0	1	1	0	0	0	0	0	8121	826	29	0	503	0	KCNMB4	12	70824293	In_Frame_Ins	INS	-	TCGA-RY-A83Z-01A-11D-A36O-08	14012734	70824293	63027602	35	33601											
ATP12A	479	broad.mit.edu	37	13	25281245	25281245	+	Missense_Mutation	SNP	G	G	T			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr13:25281245G>T	ENST00000218548.6	+	16	2605	c.2272G>T	c.(2272-2274)Gca>Tca	p.A758S	ATP12A_ENST00000381946.3_Missense_Mutation_p.A752S	NM_001185085.1|NM_001676.5	NP_001172014.1|NP_001667.4	P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	752					ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding			breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)	CATGGGGATAGCAGGTTCTGA	0.552													5	35					1.23904e-05	1.27081e-05	1	1	0	T	25281245	G	T	25281245	3	4	404	1	0	0	0	0	1	0	0	0	1121	971	34	4	2334	4	ATP12A	13	25281245	Missense_Mutation	SNP	G	TCGA-RY-A83Z-01A-11D-A36O-08		25281245	89888633	36	33602											
CATSPERB	79820	broad.mit.edu	37	14	92055893	92055893	+	Missense_Mutation	SNP	G	G	A			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr14:92055893G>A	ENST00000256343.3	-	24	3097	c.2941C>T	c.(2941-2943)Cac>Tac	p.H981Y		NM_024764.2	NP_079040.2	Q9H7T0	CTSRB_HUMAN	catsper channel auxiliary subunit beta	981					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54		all_cancers(154;0.0663)|all_epithelial(191;0.236)				TTCCAGTTGTGCCTCATGTTC	0.363													14	48					0	0	1	0	0	A	92055893	G	A	92055893	3	1	404	1	0	0	0	0	1	0	0	0	2709	1319	46	2	425	2	CATSPERB	14	92055893	Missense_Mutation	SNP	G	TCGA-RY-A83Z-01A-11D-A36O-08		92055893	15293647	37	33603											
WDR72	256764	broad.mit.edu	37	15	53907717	53907717	+	Nonsense_Mutation	SNP	G	G	A			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr15:53907717G>A	ENST00000396328.1	-	15	2925	c.2686C>T	c.(2686-2688)Cga>Tga	p.R896*	WDR72_ENST00000559418.1_Nonsense_Mutation_p.R906*|WDR72_ENST00000557913.1_Nonsense_Mutation_p.R893*|WDR72_ENST00000360509.5_Nonsense_Mutation_p.R896*	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	896										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		TCTGACTCTCGCAAAGAATCA	0.343													18	30					0	0	1	0	0	A	53907717	G	A	53907717	4	1	404	1	0	0	0	0	0	1	0	0	17382	1095	38	1	646	1	WDR72	15	53907717	Nonsense_Mutation	SNP	G	TCGA-RY-A83Z-01A-11D-A36O-08		53907717	48623675	38	33604											
AGBL1	123624	broad.mit.edu	37	15	86940603	86940603	+	Missense_Mutation	SNP	G	G	A			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr15:86940603G>A	ENST00000441037.2	+	17	2338	c.2243G>A	c.(2242-2244)cGt>cAt	p.R748H	AGBL1_ENST00000389298.3_Missense_Mutation_p.R479H|AGBL1_ENST00000421325.2_Missense_Mutation_p.R748H	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	748					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						GCAGGACATCGTCCATATCAG	0.403													3	23					0	0	1	0	0	A	86940603	G	A	86940603	3	1	404	1	0	0	0	0	1	0	0	0	372	1145	40	1	2305	1	AGBL1	15	86940603	Missense_Mutation	SNP	G	TCGA-RY-A83Z-01A-11D-A36O-08	33032886	86940603	15590789	39	33605											
GPR139	124274	broad.mit.edu	37	16	20043306	20043306	+	Silent	SNP	G	G	A			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr16:20043306G>A	ENST00000570682.1	-	2	1113	c.813C>T	c.(811-813)aaC>aaT	p.N271N		NM_001002911.2	NP_001002911.1	Q6DWJ6	GP139_HUMAN	G protein-coupled receptor 139	271						integral to membrane|plasma membrane				autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	30						GGGCTAGCATGTTGGCAATGT	0.552													29	44					0	0	1	0	0	A	20043306	G	A	20043306	2	1	404	1	0	0	0	0	0	0	0	1	6688	1368	48	2		2	GPR139	16	20043306	Silent	SNP	G	TCGA-RY-A83Z-01A-11D-A36O-08		20043306	70311447	40	33606											
CRYM	1428	broad.mit.edu	37	16	21281137	21281137	+	Missense_Mutation	SNP	A	A	G			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr16:21281137A>G	ENST00000219599.3	-	6	728	c.463T>C	c.(463-465)Ttc>Ctc	p.F155L	CRYM_ENST00000396023.2_Missense_Mutation_p.F155L|CRYM_ENST00000543948.1_Missense_Mutation_p.F155L|CRYM_ENST00000415987.2_Missense_Mutation_p.F113L	NM_001888.3	NP_001879.1	Q14894	CRYM_HUMAN	crystallin, mu	155					negative regulation of transcription from RNA polymerase II promoter|sensory perception of sound|thyroid hormone transport	cytoplasm|nucleus|plasma membrane	NADP binding|protein homodimerization activity|thyroid hormone binding|transcription corepressor activity			large_intestine(1)|lung(3)	4				GBM - Glioblastoma multiforme(48;0.0573)	Levothyroxine(DB00451)	TGCTCTGTGAAGATCTCATAA	0.522													31	30					0	0	1	0	0	G	21281137	A	G	21281137	3	3	404	1	0	0	0	0	1	0	0	0	3944	72	3	3	501	3	CRYM	16	21281137	Missense_Mutation	SNP	A	TCGA-RY-A83Z-01A-11D-A36O-08	1237831	21281137	69073616	41	33607											
OR1G1	8390	broad.mit.edu	37	17	3030555	3030555	+	Missense_Mutation	SNP	A	A	C			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr17:3030555A>C	ENST00000328890.2	-	1	320	c.291T>G	c.(289-291)tgT>tgG	p.C97W		NM_003555.1	NP_003546.1	P47890	OR1G1_HUMAN	olfactory receptor, family 1, subfamily G, member 1	97					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(4)|lung(3)|skin(3)	11						ACTGTAGTAGACACCCTGAGT	0.502													31	43					0	0	1	0	0	C	3030555	A	C	3030555	3	2	404	1	0	0	0	0	1	0	0	0	11005	273	10	5	654	5	OR1G1	17	3030555	Missense_Mutation	SNP	A	TCGA-RY-A83Z-01A-11D-A36O-08		3030555	78164655	42	33608											
TP53	7157	broad.mit.edu	37	17	7578406	7578406	+	Missense_Mutation	SNP	C	C	T	rs28934578		TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr17:7578406C>T	ENST00000420246.2	-	5	656	c.524G>A	c.(523-525)cGc>cAc	p.R175H	TP53_ENST00000413465.2_Missense_Mutation_p.R175H|TP53_ENST00000445888.2_Missense_Mutation_p.R175H|TP53_ENST00000455263.2_Missense_Mutation_p.R175H|TP53_ENST00000359597.4_Missense_Mutation_p.R175H|TP53_ENST00000269305.4_Missense_Mutation_p.R175H|TP53_ENST00000574684.1_5'UTR	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	175	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> C (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; dbSNP:rs28934578).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> 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.R175H(847)|p.R43H(36)|p.R82H(36)|p.R175L(19)|p.0?(8)|p.R175P(6)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*5(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(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)		GTGGGGGCAGCGCCTCACAAC	0.652	R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY)	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)			58	8					0	0	1	0	0	T	7578406	C	T	7578406	3	4	404	1	0	0	0	0	1	0	0	0	16442	768	27	1	774	1	TP53	17	7578406	Missense_Mutation	SNP	C	TCGA-RY-A83Z-01A-11D-A36O-08	4547851	7578406	73616804	43	33609											
XYLT2	64132	broad.mit.edu	37	17	48432928	48432928	+	Silent	SNP	C	C	T			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr17:48432928C>T	ENST00000017003.2	+	5	1123	c.1074C>T	c.(1072-1074)ggC>ggT	p.G358G	XYLT2_ENST00000507602.1_Silent_p.G358G	NM_022167.2	NP_071450.2	Q9H1B5	XYLT2_HUMAN	xylosyltransferase II	358					glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(2)|urinary_tract(1)	12	Breast(11;7.18e-19)					AGTCACATGGCCGGGACAACT	0.612													4	94					0	0	1	0	0	T	48432928	C	T	48432928	2	4	404	1	0	0	0	0	0	0	0	1	17524	726	26	2		2	XYLT2	17	48432928	Silent	SNP	C	TCGA-RY-A83Z-01A-11D-A36O-08	40854522	48432928	32762282	44	33610											
SLC7A10	56301	broad.mit.edu	37	19	33699847	33699847	+	Missense_Mutation	SNP	A	A	G			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr19:33699847A>G	ENST00000253188.4	-	11	1668	c.1522T>C	c.(1522-1524)Tgc>Cgc	p.C508R		NM_019849.2	NP_062823.1	Q9NS82	AAA1_HUMAN	solute carrier family 7 (neutral amino acid transporter light chain, asc system), member 10						blood coagulation|cellular nitrogen compound metabolic process|ion transport|leukocyte migration	integral to plasma membrane	L-serine transmembrane transporter activity			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	18	Esophageal squamous(110;0.137)					GAGGGTGGGCAGGGGCCATTC	0.547													4	14					0	0	1	0	0	G	33699847	A	G	33699847	3	3	404	1	0	0	0	0	1	0	0	0	14748	188	7	3	53	3	SLC7A10	19	33699847	Missense_Mutation	SNP	A	TCGA-RY-A83Z-01A-11D-A36O-08		33699847	25429136	45	33611											
CGB8	94115	broad.mit.edu	37	19	49552213	49552213	+	Translation_Start_Site	SNP	C	C	T			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr19:49552213C>T	ENST00000355414.2	-	0	187				CGB8_ENST00000448456.3_De_novo_Start_OutOfFrame			P01233	CGHB_HUMAN	chorionic gonadotropin, beta polypeptide 8						apoptosis|cell-cell signaling|cellular nitrogen compound metabolic process|female gamete generation|hormone biosynthetic process|peptide hormone processing|signal transduction	extracellular region|soluble fraction	hormone activity			pancreas(1)	1		all_epithelial(76;9.62e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427)	Choriogonadotropin alfa(DB00097)	GCGGAGACCACGGTGAAGTGA	0.642													4	0					0	0	1	0	0	T	49552213	C	T	49552213	1	4	404	1	0	0	0	0	0	0	0	0	3323	551	19	1		1	CGB8	19	49552213	Translation_Start_Site	SNP	C	TCGA-RY-A83Z-01A-11D-A36O-08	15852366	49552213	9576770	46	33612											
LILRB5	10990	broad.mit.edu	37	19	54758866	54758866	+	Silent	SNP	C	C	T			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr19:54758866C>T	ENST00000450632.1	-	6	1037	c.960G>A	c.(958-960)caG>caA	p.Q320Q	LILRB5_ENST00000345866.6_Silent_p.Q229Q|LILRB5_ENST00000449561.2_Silent_p.Q329Q|LILRB5_ENST00000316219.5_Silent_p.Q329Q			O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5	329					cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TGGGGCCCGGCTGCACCGAGA	0.607													12	2					0	0	1	0	0	T	54758866	C	T	54758866	2	4	404	1	0	0	0	0	0	0	0	1	8834	796	28	2		2	LILRB5	19	54758866	Silent	SNP	C	TCGA-RY-A83Z-01A-11D-A36O-08	5206653	54758866	4370117	47	33613											
LILRA2	11027	broad.mit.edu	37	19	55086932	55086932	+	Missense_Mutation	SNP	C	C	T			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr19:55086932C>T	ENST00000251377.3	+	6	998	c.865C>T	c.(865-867)Cac>Tac	p.H289Y	LILRA2_ENST00000391738.3_Missense_Mutation_p.H289Y|LILRB1_ENST00000396321.2_Intron|LILRA2_ENST00000391737.1_Missense_Mutation_p.H277Y|LILRA2_ENST00000251376.3_Missense_Mutation_p.H289Y|LILRB1_ENST00000448689.1_Intron|LILRB1_ENST00000418536.2_Intron					leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2									p.H289Y(1)		breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50				GBM - Glioblastoma multiforme(193;0.0963)		GAGCCCCTCCCACGGGGGCCA	0.647													3	49					0	0	1	0	0	T	55086932	C	T	55086932	3	4	404	1	0	0	0	0	1	0	0	0	8825	594	21	2	883	2	LILRA2	19	55086932	Missense_Mutation	SNP	C	TCGA-RY-A83Z-01A-11D-A36O-08	328066	55086932	4042051	48	33614											
NLRP8	126205	broad.mit.edu	37	19	56466710	56466710	+	Missense_Mutation	SNP	G	G	A	rs150630809	byFrequency	TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr19:56466710G>A	ENST00000291971.3	+	3	1357	c.1286G>A	c.(1285-1287)cGg>cAg	p.R429Q	NLRP8_ENST00000590542.1_Missense_Mutation_p.R429Q	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	429	NACHT.					cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		GTGTTCGTCCGGTATATTTCT	0.493													38	12					0	0	1	0	0	A	56466710	G	A	56466710	3	1	404	1	0	0	0	0	1	0	0	0	10530	1116	39	1	1296	1	NLRP8	19	56466710	Missense_Mutation	SNP	G	TCGA-RY-A83Z-01A-11D-A36O-08	1379778	56466710	2662273	49	33615											
APOL3	80833	broad.mit.edu	37	22	36537770	36537770	+	Silent	SNP	C	C	T	rs146525352	byFrequency	TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr22:36537770C>T	ENST00000424878.2	-	4	2235	c.87G>A	c.(85-87)gcG>gcA	p.A29A	APOL3_ENST00000349314.2_Silent_p.A229A|APOL3_ENST00000397287.2_Silent_p.A29A|APOL3_ENST00000487423.1_5'UTR|APOL3_ENST00000361710.2_Silent_p.A29A|APOL3_ENST00000397293.2_Silent_p.A158A			O95236	APOL3_HUMAN	apolipoprotein L, 3	229					inflammatory response|lipoprotein metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|extracellular region	lipid binding|lipid transporter activity|signal transducer activity			endometrium(2)|large_intestine(1)|lung(1)|stomach(1)	5						TCACAGCAGACGCTGCTCCCA	0.567													15	20					0	0	1	0	0	T	36537770	C	T	36537770	2	4	404	1	0	0	0	0	0	0	0	1	804	523	19	1		1	APOL3	22	36537770	Silent	SNP	C	TCGA-RY-A83Z-01A-11D-A36O-08		36537770	14766796	50	33616											
LGALS1	3956	broad.mit.edu	37	22	38075664	38075664	+	Missense_Mutation	SNP	G	G	A			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr22:38075664G>A	ENST00000215909.5	+	4	411	c.316G>A	c.(316-318)Gaa>Aaa	p.E106K	LGALS1_ENST00000489315.1_3'UTR	NM_002305.3	NP_002296.1	P09382	LEG1_HUMAN	lectin, galactoside-binding, soluble, 1	106	Galectin.				apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of apoptosis	cytoplasm|extracellular space|proteinaceous extracellular matrix	galactoside binding|signal transducer activity	p.E106K(1)		endometrium(1)|large_intestine(1)|lung(1)	3	Melanoma(58;0.0574)					AGATGGATACGAATTCAAGTT	0.567													28	30					0	0	1	0	0	A	38075664	G	A	38075664	3	1	404	1	0	0	0	0	1	0	0	0	8777	1059	37	1	330	1	LGALS1	22	38075664	Missense_Mutation	SNP	G	TCGA-RY-A83Z-01A-11D-A36O-08	1537894	38075664	13228902	51	33617											
TRIOBP	11078	broad.mit.edu	37	22	38121461	38121461	+	Silent	SNP	C	C	T			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr22:38121461C>T	ENST00000406386.3	+	7	3153	c.2898C>T	c.(2896-2898)ggC>ggT	p.G966G		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	966					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho 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)					CCTCCTTTGGCCCCACCCAGT	0.647													4	174					0	0	1	0	0	T	38121461	C	T	38121461	2	4	404	1	0	0	0	0	0	0	0	1	16614	726	26	2		2	TRIOBP	22	38121461	Silent	SNP	C	TCGA-RY-A83Z-01A-11D-A36O-08	45797	38121461	13183105	52	33618											
RBX1	9978	broad.mit.edu	37	22	41347409	41347409	+	Missense_Mutation	SNP	G	G	A			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr22:41347409G>A	ENST00000216225.8	+	1	47	c.7G>A	c.(7-9)Gca>Aca	p.A3T	XPNPEP3_ENST00000544094.1_Intron	NM_014248.3	NP_055063.1	P62877	RBX1_HUMAN	ring-box 1, E3 ubiquitin protein ligase	3					DNA repair|interspecies interaction between organisms|protein neddylation|protein ubiquitination|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|viral reproduction	Cul3-RING ubiquitin ligase complex|Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytosol|nucleus|SCF ubiquitin ligase complex	NEDD8 ligase activity|protein binding|zinc ion binding			large_intestine(1)|lung(3)|skin(1)	5						CAAAATGGCGGCAGCGATGGA	0.662													6	20					0	0	1	0	0	A	41347409	G	A	41347409	3	1	404	1	0	0	0	0	1	0	0	0	13217	1203	42	2	9	2	RBX1	22	41347409	Missense_Mutation	SNP	G	TCGA-RY-A83Z-01A-11D-A36O-08	3225948	41347409	9957157	53	33619											
CLCN4	1183	broad.mit.edu	37	X	10176604	10176604	+	Missense_Mutation	SNP	G	G	A			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chrX:10176604G>A	ENST00000380833.4	+	9	1754	c.1363G>A	c.(1363-1365)Gtt>Att	p.V455I	CLCN4_ENST00000421085.2_Missense_Mutation_p.V361I|CLCN4_ENST00000380829.1_Missense_Mutation_p.V424I	NM_001256944.1|NM_001830.3	NP_001243873.1|NP_001821.2	P51793	CLCN4_HUMAN	chloride channel, voltage-sensitive 4	455						early endosome membrane|integral to membrane|late endosome membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity	p.V455F(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						CAAAATCGTCGTTACCATATT	0.527													42	54					0	0	1	0	0	A	10176604	G	A	10176604	3	1	404	1	0	0	0	0	1	0	0	0	3488	1145	40	1	1389	1	CLCN4	23	10176604	Missense_Mutation	SNP	G	TCGA-RY-A83Z-01A-11D-A36O-08		10176604	145093956	54	33620											
MAP3K15	389840	broad.mit.edu	37	X	19378946	19378946	+	Missense_Mutation	SNP	C	C	A			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chrX:19378946C>A	ENST00000338883.4	-	29	3862	c.3863G>T	c.(3862-3864)gGt>gTt	p.G1288V	MAP3K15_ENST00000359173.3_Missense_Mutation_p.G723V|PDHA1_ENST00000422285.2_3'UTR|PDHA1_ENST00000540249.1_3'UTR|MAP3K15_ENST00000469203.2_Missense_Mutation_p.G1120V|MAP3K15_ENST00000518578.1_5'UTR|PDHA1_ENST00000545074.1_3'UTR|PDHA1_ENST00000379806.5_3'UTR	NM_001001671.3	NP_001001671.3	Q6ZN16	M3K15_HUMAN	mitogen-activated protein kinase kinase kinase 15	1288							ATP binding|MAP kinase kinase kinase activity|metal ion binding			NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	Hepatocellular(33;0.183)					GCAGAGGAGACCACCCCTGGG	0.473													16	24					1.15088e-07	1.19572e-07	1	1	0	A	19378946	C	A	19378946	3	1	404	1	0	0	0	0	1	0	0	0	9299	507	18	5	82	5	MAP3K15	23	19378946	Missense_Mutation	SNP	C	TCGA-RY-A83Z-01A-11D-A36O-08	9202342	19378946	135891614	55	33621											
PHEX	5251	broad.mit.edu	37	X	22245635	22245635	+	Missense_Mutation	SNP	A	A	T			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chrX:22245635A>T	ENST00000379374.4	+	20	2542	c.1977A>T	c.(1975-1977)aaA>aaT	p.K659N	PHEX_ENST00000537599.1_Missense_Mutation_p.K659N|PHEX_ENST00000418858.3_Missense_Mutation_p.K362N|PHEX_ENST00000535894.1_Missense_Mutation_p.K562N	NM_000444.4	NP_000435.3	P78562	PHEX_HUMAN	phosphate regulating endopeptidase homolog, X-linked	659					biomineral tissue development|cell-cell signaling|protein modification process|proteolysis|skeletal system development	integral to plasma membrane	aminopeptidase activity|metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(2)|endometrium(2)|large_intestine(12)|liver(1)|lung(19)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	42						CTTACAGGAAATGGATAAATG	0.453													28	25					0	0	1	0	0	T	22245635	A	T	22245635	3	4	404	1	0	0	0	0	1	0	0	0	11867	98	4	4	2055	4	PHEX	23	22245635	Missense_Mutation	SNP	A	TCGA-RY-A83Z-01A-11D-A36O-08	2866689	22245635	133024925	56	33622											
CXorf22	170063	broad.mit.edu	37	X	35959495	35959495	+	Missense_Mutation	SNP	C	C	G			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chrX:35959495C>G	ENST00000297866.5	+	3	563	c.497C>G	c.(496-498)aCt>aGt	p.T166S		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	166										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						ATTACTATCACTAACCATGGC	0.333													12	31					0	0	1	0	0	G	35959495	C	G	35959495	3	3	404	1	0	0	0	0	1	0	0	0	4125	565	20	4	507	4	CXorf22	23	35959495	Missense_Mutation	SNP	C	TCGA-RY-A83Z-01A-11D-A36O-08	13713860	35959495	119311065	57	33623											
CFP	5199	broad.mit.edu	37	X	47485791	47485791	+	Silent	SNP	G	G	A			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chrX:47485791G>A	ENST00000247153.3	-	8	1309	c.1068C>T	c.(1066-1068)gaC>gaT	p.D356D	CFP_ENST00000396992.3_Silent_p.D356D|CFP_ENST00000377005.2_Silent_p.D356D	NM_002621.2	NP_002612.1	P27918	PROP_HUMAN	complement factor properdin	356	TSP type-1 5.				complement activation, alternative pathway|defense response to bacterium	extracellular space				breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	18						ATCGATGTCCGTCAAACTTGC	0.607													6	13					0	0	1	0	0	A	47485791	G	A	47485791	2	1	404	1	0	0	0	0	0	0	0	1	3315	1136	40	1		1	CFP	23	47485791	Silent	SNP	G	TCGA-RY-A83Z-01A-11D-A36O-08	11526296	47485791	107784769	58	33624											
ZXDA	7789	broad.mit.edu	37	X	57935760	57935760	+	Silent	SNP	G	G	A			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chrX:57935760G>A	ENST00000358697.4	-	1	1307	c.1095C>T	c.(1093-1095)tgC>tgT	p.C365C		NM_007156.4	NP_009087.1	P98168	ZXDA_HUMAN	zinc finger, X-linked, duplicated A	365	Required for interaction with ZXDC.				positive regulation of transcription, DNA-dependent	nucleus	C2H2 zinc finger domain binding|identical protein binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|prostate(2)|skin(1)	37						AGCTCTCCTCGCACACCTCAC	0.607													33	41					0	0	1	0	0	A	57935760	G	A	57935760	2	1	404	1	0	0	0	0	0	0	0	1	18290	1079	38	1		1	ZXDA	23	57935760	Silent	SNP	G	TCGA-RY-A83Z-01A-11D-A36O-08	10449969	57935760	97334800	59	33625											
ZXDA	7789	broad.mit.edu	37	X	57936020	57936020	+	Missense_Mutation	SNP	C	C	T			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chrX:57936020C>T	ENST00000358697.4	-	1	1047	c.835G>A	c.(835-837)Gcc>Acc	p.A279T		NM_007156.4	NP_009087.1	P98168	ZXDA_HUMAN	zinc finger, X-linked, duplicated A	279	Required for interaction with ZXDC.				positive regulation of transcription, DNA-dependent	nucleus	C2H2 zinc finger domain binding|identical protein binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|prostate(2)|skin(1)	37						TGCTTCTTGGCGAAGGTTTGC	0.697													9	4					0	0	1	0	0	T	57936020	C	T	57936020	3	4	404	1	0	0	0	0	1	0	0	0	18290	768	27	1	1568	1	ZXDA	23	57936020	Missense_Mutation	SNP	C	TCGA-RY-A83Z-01A-11D-A36O-08	260	57936020	97334540	60	33626											
SLC16A2	6567	broad.mit.edu	37	X	73740894	73740894	+	Missense_Mutation	SNP	G	G	A			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chrX:73740894G>A	ENST00000276033.5	+	2	888	c.722G>A	c.(721-723)cGt>cAt	p.R241H	SLC16A2_ENST00000587091.1_Missense_Mutation_p.R167H			P36021	MOT8_HUMAN	solute carrier family 16, member 2 (thyroid hormone transporter)	167						integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	21					Pyruvic acid(DB00119)	TTCACTGACCGTTTGGGCTGC	0.512													48	70					0	0	1	0	0	A	73740894	G	A	73740894	3	1	404	1	0	0	0	0	1	0	0	0	14463	1145	40	1	728	1	SLC16A2	23	73740894	Missense_Mutation	SNP	G	TCGA-RY-A83Z-01A-11D-A36O-08	15804874	73740894	81529666	61	33627											
ATRX	546	broad.mit.edu	37	X	76889121	76889122	+	Frame_Shift_Ins	INS	-	-	T			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chrX:76889121_76889122insT	ENST00000373344.5	-	18	5102_5103	c.4888_4889insA	c.(4888-4890)actfs	p.T1630fs	ATRX_ENST00000395603.3_Frame_Shift_Ins_p.T1592fs|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1630	Helicase ATP-binding.				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)	ATTCAAAGCAGTATTAAGAGGA	0.337			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						40	57	---	---	---	---						T	76889122	-	T	76889121	7	5	404	1	0	1	1	0	0	0	0	0	1206	1029	36	0	2661	0	ATRX	23	76889121	Frame_Shift_Ins	INS	-	TCGA-RY-A83Z-01A-11D-A36O-08	3148227	76889121	78381439	62	33628											
GPR112	139378	broad.mit.edu	37	X	135426598	135426598	+	Nonsense_Mutation	SNP	C	C	T			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chrX:135426598C>T	ENST00000394143.1	+	6	1024	c.733C>T	c.(733-735)Caa>Taa	p.Q245*	GPR112_ENST00000394141.1_Nonsense_Mutation_p.Q40*|GPR112_ENST00000412101.1_Nonsense_Mutation_p.Q40*|GPR112_ENST00000370652.1_Nonsense_Mutation_p.Q245*|GPR112_ENST00000287534.4_Nonsense_Mutation_p.Q182*	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	245					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					AACTGTTTCACAACAGATAGA	0.328													25	48					0	0	1	0	0	T	135426598	C	T	135426598	4	4	404	1	0	0	0	0	0	1	0	0	6669	479	17	2	743	2	GPR112	23	135426598	Nonsense_Mutation	SNP	C	TCGA-RY-A83Z-01A-11D-A36O-08	58537477	135426598	19843962	63	33629											
MAGEA4	4103	broad.mit.edu	37	X	151092272	151092272	+	Missense_Mutation	SNP	C	C	G			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chrX:151092272C>G	ENST00000370335.1	+	3	403	c.136C>G	c.(136-138)Ctg>Gtg	p.L46V	MAGEA4_ENST00000393920.1_Missense_Mutation_p.L46V|MAGEA4_ENST00000370337.4_Missense_Mutation_p.L46V|MAGEA4_ENST00000360243.2_Missense_Mutation_p.L46V|MAGEA4_ENST00000276344.2_Missense_Mutation_p.L46V|MAGEA4_ENST00000370340.3_Missense_Mutation_p.L46V|MAGEA4_ENST00000393921.1_Missense_Mutation_p.L46V			P43358	MAGA4_HUMAN	melanoma antigen family A, 4	46							protein binding			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)	27	Acute lymphoblastic leukemia(192;6.56e-05)					CTCCTCTCCTCTGGTCCCTGG	0.627													31	51					0	0	1	0	0	G	151092272	C	G	151092272	3	3	404	1	0	0	0	0	1	0	0	0	9216	912	32	4	138	4	MAGEA4	23	151092272	Missense_Mutation	SNP	C	TCGA-RY-A83Z-01A-11D-A36O-08	15665674	151092272	4178288	64	33630			1	41		2	2	28	C		5.756254e-05
MAGEA4	4103	broad.mit.edu	37	X	151092299	151092299	+	Missense_Mutation	SNP	C	C	T			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chrX:151092299C>T	ENST00000370335.1	+	3	430	c.163C>T	c.(163-165)Cct>Tct	p.P55S	MAGEA4_ENST00000393920.1_Missense_Mutation_p.P55S|MAGEA4_ENST00000370337.4_Missense_Mutation_p.P55S|MAGEA4_ENST00000360243.2_Missense_Mutation_p.P55S|MAGEA4_ENST00000276344.2_Missense_Mutation_p.P55S|MAGEA4_ENST00000370340.3_Missense_Mutation_p.P55S|MAGEA4_ENST00000393921.1_Missense_Mutation_p.P55S			P43358	MAGA4_HUMAN	melanoma antigen family A, 4	55							protein binding			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)	27	Acute lymphoblastic leukemia(192;6.56e-05)					GGAGGAAGTGCCTGCTGCTGA	0.627													25	58					0	0	1	0	0	T	151092299	C	T	151092299	3	4	404	1	0	0	0	0	1	0	0	0	9216	739	26	2	165	2	MAGEA4	23	151092299	Missense_Mutation	SNP	C	TCGA-RY-A83Z-01A-11D-A36O-08	27	151092299	4178261	65	33631			1	41		2	2	28	C		5.756254e-05
ATP6AP1	537	broad.mit.edu	37	X	153664056	153664056	+	Missense_Mutation	SNP	A	A	T			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chrX:153664056A>T	ENST00000369762.2	+	10	1293	c.1232A>T	c.(1231-1233)cAg>cTg	p.Q411L		NM_001183.4	NP_001174.2	Q15904	VAS1_HUMAN	ATPase, H+ transporting, lysosomal accessory protein 1	411					ATP hydrolysis coupled proton transport	integral to membrane|proton-transporting V-type ATPase, V1 domain|vacuolar membrane	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(5)	14	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					ATGGGGGAGCAGTTCTCCTAC	0.597													77	95					0	0	1	0	0	T	153664056	A	T	153664056	3	4	404	1	0	0	0	0	1	0	0	0	1163	188	7	5	1270	5	ATP6AP1	23	153664056	Missense_Mutation	SNP	A	TCGA-RY-A83Z-01A-11D-A36O-08	2571757	153664056	1606504	66	33632											
SCAMP3	10067	broad.mit.edu	37	1	155226515	155226515	+	Missense_Mutation	SNP	C	C	T			TCGA-RY-A840-01A-11D-A36O-08	TCGA-RY-A840-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91848fc-8730-434f-acab-791488ffe5eb	2a99e03f-024c-4750-81e0-7bcf3014ef3c	g.chr1:155226515C>T	ENST00000355379.3	-	7	1047	c.769G>A	c.(769-771)Gcc>Acc	p.A257T	SCAMP3_ENST00000472397.1_5'UTR|SCAMP3_ENST00000302631.3_Missense_Mutation_p.A283T	NM_052837.2	NP_443069.1	O14828	SCAM3_HUMAN	secretory carrier membrane protein 3	283					post-Golgi vesicle-mediated transport|protein transport	integral to membrane				breast(1)|endometrium(3)|large_intestine(3)|lung(7)|ovary(4)|urinary_tract(1)	19	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			AAGAGCAGGGCGACCAGCAGC	0.582													16	30					0	0	1	0	0	T	155226515	C	T	155226515	3	4	405	1	0	0	0	0	1	0	0	0	13925	768	27	1	204	1	SCAMP3	1	155226515	Missense_Mutation	SNP	C	TCGA-RY-A840-01A-11D-A36O-08		155226515	94024106	1	33633											
FCRL2	79368	broad.mit.edu	37	1	157737385	157737385	+	Silent	SNP	C	C	T			TCGA-RY-A840-01A-11D-A36O-08	TCGA-RY-A840-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91848fc-8730-434f-acab-791488ffe5eb	2a99e03f-024c-4750-81e0-7bcf3014ef3c	g.chr1:157737385C>T	ENST00000469986.1	-	1	179	c.39G>A	c.(37-39)agG>agA	p.R13R	FCRL2_ENST00000368181.4_Intron|FCRL2_ENST00000392274.3_Intron|FCRL2_ENST00000361516.3_Intron			Q96LA5	FCRL2_HUMAN	Fc receptor-like 2	0					cell-cell signaling	integral to membrane|plasma membrane|soluble fraction	receptor activity|SH3/SH2 adaptor activity			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|skin(2)	51	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			CAGCAAAGGGCCTGGCCCCAT	0.448													47	39					0	0	1	0	0	T	157737385	C	T	157737385	2	4	405	1	0	0	0	0	0	0	0	1	5828	754	26	2		2	FCRL2	1	157737385	Silent	SNP	C	TCGA-RY-A840-01A-11D-A36O-08	2510870	157737385	91513236	2	33634											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-RY-A840-01A-11D-A36O-08	TCGA-RY-A840-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91848fc-8730-434f-acab-791488ffe5eb	2a99e03f-024c-4750-81e0-7bcf3014ef3c	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	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								27	59					0	0	1	0	0	T	209113112	C	T	209113112	3	4	405	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-RY-A840-01A-11D-A36O-08		209113112	34086261	3	33635											
ANO7	50636	broad.mit.edu	37	2	242135327	242135327	+	Missense_Mutation	SNP	G	G	A			TCGA-RY-A840-01A-11D-A36O-08	TCGA-RY-A840-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91848fc-8730-434f-acab-791488ffe5eb	2a99e03f-024c-4750-81e0-7bcf3014ef3c	g.chr2:242135327G>A	ENST00000402530.3	+	4	638	c.535G>A	c.(535-537)Gca>Aca	p.A179T	ANO7_ENST00000402430.3_Intron|ANO7_ENST00000274979.8_Intron	NM_001001666.3	NP_001001666.1	Q6IWH7	ANO7_HUMAN	anoctamin 7	0						cell junction|chloride channel complex|cytosol	chloride channel activity			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	32						TGACCTTGCCGCATGAGGCCT	0.632													12	15					0	0	1	0	0	A	242135327	G	A	242135327	3	1	405	1	0	0	0	0	1	0	0	0	696	1087	38	1	552	1	ANO7	2	242135327	Missense_Mutation	SNP	G	TCGA-RY-A840-01A-11D-A36O-08	33022215	242135327	1064046	4	33636											
TNFAIP8	25816	broad.mit.edu	37	5	118728917	118728917	+	Silent	SNP	C	C	T			TCGA-RY-A840-01A-11D-A36O-08	TCGA-RY-A840-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91848fc-8730-434f-acab-791488ffe5eb	2a99e03f-024c-4750-81e0-7bcf3014ef3c	g.chr5:118728917C>T	ENST00000504771.2	+	2	2215	c.438C>T	c.(436-438)caC>caT	p.H146H	TNFAIP8_ENST00000504642.1_Silent_p.H148H|TNFAIP8_ENST00000503646.1_Silent_p.H146H|TNFAIP8_ENST00000513374.1_Silent_p.H158H|TNFAIP8_ENST00000415806.2_3'UTR|TNFAIP8_ENST00000274456.6_Silent_p.H136H	NM_014350.2	NP_055165.2	O95379	TFIP8_HUMAN	tumor necrosis factor, alpha-induced protein 8	146					anti-apoptosis|apoptosis|negative regulation of anti-apoptosis	cytoplasm	caspase inhibitor activity|protein binding			ovary(1)	1		all_cancers(142;0.0317)|Prostate(80;0.111)|Breast(839;0.231)		Epithelial(69;4.63e-83)|OV - Ovarian serous cystadenocarcinoma(64;1.39e-82)|all cancers(49;4.88e-75)|GBM - Glioblastoma multiforme(465;0.00338)|BRCA - Breast invasive adenocarcinoma(61;0.0148)|COAD - Colon adenocarcinoma(49;0.0829)		TTCAGCGCCACCTCACTGCCA	0.408													34	57					0	0	1	0	0	T	118728917	C	T	118728917	2	4	405	1	0	0	0	0	0	0	0	1	16336	506	18	2		2	TNFAIP8	5	118728917	Silent	SNP	C	TCGA-RY-A840-01A-11D-A36O-08		118728917	62186343	5	33637											
FGD2	221472	broad.mit.edu	37	6	36989372	36989372	+	Missense_Mutation	SNP	G	G	A			TCGA-RY-A840-01A-11D-A36O-08	TCGA-RY-A840-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91848fc-8730-434f-acab-791488ffe5eb	2a99e03f-024c-4750-81e0-7bcf3014ef3c	g.chr6:36989372G>A	ENST00000274963.8	+	12	1489	c.1318G>A	c.(1318-1320)Gag>Aag	p.E440K		NM_173558.3	NP_775829.2	Q7Z6J4	FGD2_HUMAN	FYVE, RhoGEF and PH domain containing 2	440					actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|early endosome membrane|Golgi apparatus|lamellipodium|nucleus|ruffle membrane	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	25						AGACATCCAGGAGCAGGAGGT	0.557											OREG0017395	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	9					0	0	1	0	0	A	36989372	G	A	36989372	3	1	405	1	0	0	0	0	1	0	0	0	5866	1175	41	2	1364	2	FGD2	6	36989372	Missense_Mutation	SNP	G	TCGA-RY-A840-01A-11D-A36O-08		36989372	134125695	6	33638											
TRIM24	8805	broad.mit.edu	37	7	138263957	138263957	+	Silent	SNP	T	T	C			TCGA-RY-A840-01A-11D-A36O-08	TCGA-RY-A840-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91848fc-8730-434f-acab-791488ffe5eb	2a99e03f-024c-4750-81e0-7bcf3014ef3c	g.chr7:138263957T>C	ENST00000343526.4	+	15	2480	c.2265T>C	c.(2263-2265)taT>taC	p.Y755Y	TRIM24_ENST00000415680.2_Silent_p.Y721Y			O15164	TIF1A_HUMAN	tripartite motif containing 24	755	Nuclear receptor binding site (NRBS).				cellular response to estrogen stimulus|protein catabolic process|regulation of apoptosis|regulation of protein stability|transcription from RNA polymerase II promoter	cytoplasm	chromatin binding|estrogen response element binding|histone acetyl-lysine binding|p53 binding|transcription coactivator activity|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(5)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	40						AGGCCAATTATCCAAGAAGCA	0.398													37	47					0	0	1	0	0	C	138263957	T	C	138263957	2	2	405	1	0	0	0	0	0	0	0	1	16559	1442	50	3		3	TRIM24	7	138263957	Silent	SNP	T	TCGA-RY-A840-01A-11D-A36O-08		138263957	20874706	7	33639											
GML	2765	broad.mit.edu	37	8	143922564	143922564	+	Missense_Mutation	SNP	C	C	T	rs138790796	by1000genomes	TCGA-RY-A840-01A-11D-A36O-08	TCGA-RY-A840-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91848fc-8730-434f-acab-791488ffe5eb	2a99e03f-024c-4750-81e0-7bcf3014ef3c	g.chr8:143922564C>T	ENST00000220940.1	+	3	194	c.104C>T	c.(103-105)gCg>gTg	p.A35V		NM_002066.2	NP_002057.1	Q99445	GML_HUMAN	glycosylphosphatidylinositol anchored molecule like	35	UPAR/Ly6.				apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|negative regulation of cell proliferation	anchored to membrane|extrinsic to membrane|plasma membrane				NS(1)|central_nervous_system(2)|endometrium(1)|large_intestine(6)|lung(8)	18	all_cancers(97;4.26e-11)|all_epithelial(106;1.85e-08)|Lung NSC(106;0.000274)|all_lung(105;0.000755)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					CATGACTGTGCGGTCATAAAT	0.463													4	130					0	0	1	0	0	T	143922564	C	T	143922564	3	4	405	1	0	0	0	0	1	0	0	0	6534	768	27	1	110	1	GML	8	143922564	Missense_Mutation	SNP	C	TCGA-RY-A840-01A-11D-A36O-08		143922564	2441458	8	33640											
GRIN1	2902	broad.mit.edu	37	9	140062230	140062230	+	Missense_Mutation	SNP	A	A	G			TCGA-RY-A840-01A-11D-A36O-08	TCGA-RY-A840-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91848fc-8730-434f-acab-791488ffe5eb	2a99e03f-024c-4750-81e0-7bcf3014ef3c	g.chr9:140062230A>G	ENST00000315048.3	+	20	3802	c.2705A>G	c.(2704-2706)tAc>tGc	p.Y902C	GRIN1_ENST00000371560.3_Missense_Mutation_p.Y886C|GRIN1_ENST00000371550.4_3'UTR|GRIN1_ENST00000371561.3_3'UTR|GRIN1_ENST00000371559.4_Missense_Mutation_p.Y865C|GRIN1_ENST00000371546.4_3'UTR|GRIN1_ENST00000371553.3_Missense_Mutation_p.Y923C|GRIN1_ENST00000371555.4_3'UTR			Q05586	NMDZ1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 1	0					ionotropic glutamate receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|regulation of excitatory postsynaptic membrane potential|response to ethanol|visual learning	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane|synaptic vesicle|synaptosome	calcium ion binding|calmodulin binding|extracellular-glutamate-gated ion channel activity|glutamate binding|glycine binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;6.87e-05)|Epithelial(140;0.00095)	L-Glutamic Acid(DB00142)|Orphenadrine(DB01173)	TTGCAGCAGTACCATCCCACT	0.682													3	39					0	0	1	0	0	G	140062230	A	G	140062230	3	3	405	1	0	0	0	0	1	0	0	0	6819	391	14	3	2971	3	GRIN1	9	140062230	Missense_Mutation	SNP	A	TCGA-RY-A840-01A-11D-A36O-08		140062230	1151201	9	33641											
COL13A1	1305	broad.mit.edu	37	10	71690264	71690264	+	Missense_Mutation	SNP	G	G	A			TCGA-RY-A840-01A-11D-A36O-08	TCGA-RY-A840-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91848fc-8730-434f-acab-791488ffe5eb	2a99e03f-024c-4750-81e0-7bcf3014ef3c	g.chr10:71690264G>A	ENST00000356340.3	+	28	2142	c.1606G>A	c.(1606-1608)Gga>Aga	p.G536R	COL13A1_ENST00000398978.3_Missense_Mutation_p.G536R|COL13A1_ENST00000520267.1_Missense_Mutation_p.G479R|COL13A1_ENST00000398974.3_Missense_Mutation_p.G524R|COL13A1_ENST00000398964.3_Missense_Mutation_p.G507R|COL13A1_ENST00000398966.3_Missense_Mutation_p.G514R|COL13A1_ENST00000398968.3_Missense_Mutation_p.G517R|COL13A1_ENST00000398973.3_Missense_Mutation_p.G536R|COL13A1_ENST00000520133.1_Missense_Mutation_p.G485R|COL13A1_ENST00000354547.3_Missense_Mutation_p.G514R|COL13A1_ENST00000522165.1_Missense_Mutation_p.G517R|COL13A1_ENST00000398972.3_Missense_Mutation_p.G536R|COL13A1_ENST00000398971.3_Missense_Mutation_p.G536R|COL13A1_ENST00000357811.3_Missense_Mutation_p.G514R|COL13A1_ENST00000517713.1_Missense_Mutation_p.G514R|COL13A1_ENST00000398969.3_Missense_Mutation_p.G479R			Q5TAT6	CODA1_HUMAN	collagen, type XIII, alpha 1	536	Triple-helical region 3 (COL3).				cell differentiation|cell-cell adhesion|cell-matrix adhesion|endochondral ossification|morphogenesis of a branching structure	collagen type XIII|integral to membrane	extracellular matrix structural constituent|heparin binding|protein binding			endometrium(5)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	28					Atorvastatin(DB01076)|Simvastatin(DB00641)	AGGGAGCCCAGGAGAGAAGGG	0.632													14	11					0	0	1	0	0	A	71690264	G	A	71690264	3	1	405	1	0	0	0	0	1	0	0	0	3693	1001	35	2	1720	2	COL13A1	10	71690264	Missense_Mutation	SNP	G	TCGA-RY-A840-01A-11D-A36O-08		71690264	63844483	10	33642											
STX3	6809	broad.mit.edu	37	11	59564807	59564807	+	Silent	SNP	T	T	C			TCGA-RY-A840-01A-11D-A36O-08	TCGA-RY-A840-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91848fc-8730-434f-acab-791488ffe5eb	2a99e03f-024c-4750-81e0-7bcf3014ef3c	g.chr11:59564807T>C	ENST00000535361.1	+	9	1274	c.727T>C	c.(727-729)Ttg>Ctg	p.L243L	STX3_ENST00000337979.4_Silent_p.L280L|STX3_ENST00000529177.1_Intron|STX3_ENST00000300150.7_Silent_p.L249L|STX3_ENST00000437946.2_Intron			Q13277	STX3_HUMAN	syntaxin 3	280	t-SNARE coiled-coil homology.				cellular response to oxidative stress|intracellular protein transport|neuron projection development|neurotransmitter transport	apical plasma membrane|azurophil granule|cell-cell junction|growth cone|integral to membrane|plasma membrane enriched fraction|SNARE complex|specific granule	arachidonic acid binding|SNAP receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|skin(1)	13						CATTTTAGCATTGATTATTGG	0.388													8	81					0	0	1	0	0	C	59564807	T	C	59564807	2	2	405	1	0	0	0	0	0	0	0	1	15402	1490	52	3		3	STX3	11	59564807	Silent	SNP	T	TCGA-RY-A840-01A-11D-A36O-08		59564807	75441709	11	33643											
MMP12	4321	broad.mit.edu	37	11	102737945	102737945	+	RNA	DEL	A	A	-	rs28381681		TCGA-RY-A840-01A-11D-A36O-08	TCGA-RY-A840-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91848fc-8730-434f-acab-791488ffe5eb	2a99e03f-024c-4750-81e0-7bcf3014ef3c	g.chr11:102737945delA	ENST00000532855.1	-	0	1007							P39900	MMP12_HUMAN	matrix metallopeptidase 12 (macrophage elastase)						positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.014)	Acetohydroxamic Acid(DB00551)	GTTTTCTGACAAAAAAAATTT	0.338													6	0	---	---	---	---						-	102737945	A	-	102737945	6	5	405	0	1	1	0	1	0	0	0	0	9699	145	5	0		0	MMP12	11	102737945	RNA	DEL	A	TCGA-RY-A840-01A-11D-A36O-08	43173138	102737945	32268571	12	33644											
LCP1	3936	broad.mit.edu	37	13	46717525	46717525	+	Missense_Mutation	SNP	G	G	A			TCGA-RY-A840-01A-11D-A36O-08	TCGA-RY-A840-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91848fc-8730-434f-acab-791488ffe5eb	2a99e03f-024c-4750-81e0-7bcf3014ef3c	g.chr13:46717525G>A	ENST00000398576.2	-	15	1656	c.1268C>T	c.(1267-1269)gCc>gTc	p.A423V	LCP1_ENST00000323076.2_Missense_Mutation_p.A423V			P13796	PLSL_HUMAN	lymphocyte cytosolic protein 1 (L-plastin)	423	Actin-binding 2.|CH 3.				regulation of intracellular protein transport|T cell activation involved in immune response	cell junction|cytosol|ruffle membrane	calcium ion binding			breast(2)|kidney(1)|large_intestine(6)|lung(18)|ovary(4)|prostate(2)|skin(1)	34		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.39e-05)		GATGACCAGGGCATCTGATAA	0.413			T	BCL6	NHL								3	58					0	0	1	0	0	A	46717525	G	A	46717525	3	1	405	1	0	0	0	0	1	0	0	0	8730	1203	42	2	635	2	LCP1	13	46717525	Missense_Mutation	SNP	G	TCGA-RY-A840-01A-11D-A36O-08		46717525	68452353	13	33645											
NEDD8	4738	broad.mit.edu	37	14	24687634	24687634	+	Silent	SNP	G	G	A			TCGA-RY-A840-01A-11D-A36O-08	TCGA-RY-A840-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91848fc-8730-434f-acab-791488ffe5eb	2a99e03f-024c-4750-81e0-7bcf3014ef3c	g.chr14:24687634G>A	ENST00000250495.5	-	2	208	c.22C>T	c.(22-24)Ctg>Ttg	p.L8L	NEDD8-MDP1_ENST00000534348.1_Silent_p.L8L|NEDD8_ENST00000524927.1_Silent_p.L8L|NEDD8-MDP1_ENST00000604306.1_5'UTR	NM_006156.2	NP_006147.1			neural precursor cell expressed, developmentally down-regulated 8											breast(1)|central_nervous_system(1)|large_intestine(1)|lung(2)	5				GBM - Glioblastoma multiforme(265;0.0186)		TTTCCGGTCAGCGTCTGAAAC	0.423													3	23					0	0	1	0	0	A	24687634	G	A	24687634	2	1	405	1	0	0	0	0	0	0	0	1	10359	962	34	2		2	NEDD8	14	24687634	Silent	SNP	G	TCGA-RY-A840-01A-11D-A36O-08		24687634	82661906	14	33646											
LRRK1	79705	broad.mit.edu	37	15	101528897	101528897	+	Silent	SNP	G	G	A			TCGA-RY-A840-01A-11D-A36O-08	TCGA-RY-A840-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91848fc-8730-434f-acab-791488ffe5eb	2a99e03f-024c-4750-81e0-7bcf3014ef3c	g.chr15:101528897G>A	ENST00000284395.5	+	6	883	c.483G>A	c.(481-483)ggG>ggA	p.G161G	LRRK1_ENST00000532029.2_Silent_p.G164G|LRRK1_ENST00000388948.3_Silent_p.G164G			Q38SD2	LRRK1_HUMAN	leucine-rich repeat kinase 1	164					small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			GCCAGCGAGGGCACCTGGGGG	0.627													56	57					0	0	1	0	0	A	101528897	G	A	101528897	2	1	405	1	0	0	0	0	0	0	0	1	9077	1190	42	2		2	LRRK1	15	101528897	Silent	SNP	G	TCGA-RY-A840-01A-11D-A36O-08		101528897	1002495	15	33647											
ACSM2B	348158	broad.mit.edu	37	16	20576155	20576155	+	Nonsense_Mutation	SNP	G	G	A			TCGA-RY-A840-01A-11D-A36O-08	TCGA-RY-A840-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91848fc-8730-434f-acab-791488ffe5eb	2a99e03f-024c-4750-81e0-7bcf3014ef3c	g.chr16:20576155G>A	ENST00000329697.6	-	2	181	c.13C>T	c.(13-15)Cga>Tga	p.R5*	ACSM2B_ENST00000565232.1_Nonsense_Mutation_p.R5*|ACSM2B_ENST00000567001.1_Nonsense_Mutation_p.R5*|ACSM2B_ENST00000414188.2_Nonsense_Mutation_p.R5*|ACSM2B_ENST00000565322.1_Intron	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	5					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding	p.R5*(1)		breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						TGAACTTTTCGCAGCCAATGC	0.493													31	27					0	0	1	0	0	A	20576155	G	A	20576155	4	1	405	1	0	0	0	0	0	1	0	0	184	1095	38	1	1772	1	ACSM2B	16	20576155	Nonsense_Mutation	SNP	G	TCGA-RY-A840-01A-11D-A36O-08		20576155	69778598	16	33648											
SMARCA4	6597	broad.mit.edu	37	19	11134287	11134287	+	Missense_Mutation	SNP	G	G	A			TCGA-RY-A840-01A-11D-A36O-08	TCGA-RY-A840-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91848fc-8730-434f-acab-791488ffe5eb	2a99e03f-024c-4750-81e0-7bcf3014ef3c	g.chr19:11134287G>A	ENST00000358026.2	+	20	3237	c.2953G>A	c.(2953-2955)Gag>Aag	p.E985K	SMARCA4_ENST00000429416.3_Missense_Mutation_p.E985K|SMARCA4_ENST00000450717.3_Missense_Mutation_p.E985K|SMARCA4_ENST00000590574.1_Missense_Mutation_p.E985K|SMARCA4_ENST00000589677.1_Missense_Mutation_p.E985K|SMARCA4_ENST00000444061.3_Missense_Mutation_p.E985K|SMARCA4_ENST00000413806.3_Missense_Mutation_p.E985K|SMARCA4_ENST00000344626.4_Missense_Mutation_p.E985K|SMARCA4_ENST00000541122.2_Missense_Mutation_p.E985K	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	985					chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				GAAGGAAGTCGAGGCCCAGTT	0.592			"F, N, Mis"		NSCLC								8	10					0	0	1	0	0	A	11134287	G	A	11134287	3	1	405	1	0	0	0	0	1	0	0	0	14824	1059	37	1	3027	1	SMARCA4	19	11134287	Missense_Mutation	SNP	G	TCGA-RY-A840-01A-11D-A36O-08		11134287	47994696	17	33649											
CPAMD8	27151	broad.mit.edu	37	19	17015311	17015311	+	Missense_Mutation	SNP	G	G	A			TCGA-RY-A840-01A-11D-A36O-08	TCGA-RY-A840-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91848fc-8730-434f-acab-791488ffe5eb	2a99e03f-024c-4750-81e0-7bcf3014ef3c	g.chr19:17015311G>A	ENST00000443236.1	-	31	4251	c.4220C>T	c.(4219-4221)aCa>aTa	p.T1407I		NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	1360						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						GCTCAAGAATGTGCCCTTGTC	0.582													25	36					0	0	1	0	0	A	17015311	G	A	17015311	3	1	405	1	0	0	0	0	1	0	0	0	3818	1377	48	2	1626	2	CPAMD8	19	17015311	Missense_Mutation	SNP	G	TCGA-RY-A840-01A-11D-A36O-08	5881024	17015311	42113672	18	33650											
CCDC106	29903	broad.mit.edu	37	19	56160918	56160918	+	Missense_Mutation	SNP	A	A	C			TCGA-RY-A840-01A-11D-A36O-08	TCGA-RY-A840-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91848fc-8730-434f-acab-791488ffe5eb	2a99e03f-024c-4750-81e0-7bcf3014ef3c	g.chr19:56160918A>C	ENST00000586790.1	+	3	1185	c.281A>C	c.(280-282)gAc>gCc	p.D94A	CCDC106_ENST00000308964.3_Missense_Mutation_p.D94A|CCDC106_ENST00000591578.1_Missense_Mutation_p.D94A|CCDC106_ENST00000588740.1_Missense_Mutation_p.D94A|CCDC106_ENST00000591241.1_Missense_Mutation_p.D59A			Q9BWC9	CC106_HUMAN	coiled-coil domain containing 106	94						nucleus				endometrium(2)|large_intestine(3)|lung(5)|skin(1)	11		Colorectal(82;0.00403)|Ovarian(87;0.133)	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)		TGCCAGCTGGACAAATTCATC	0.602													10	3					0	0	1	0	0	C	56160918	A	C	56160918	3	2	405	1	0	0	0	0	1	0	0	0	2759	275	10	5	291	5	CCDC106	19	56160918	Missense_Mutation	SNP	A	TCGA-RY-A840-01A-11D-A36O-08	39145607	56160918	2968065	19	33651											
FAM65C	140876	broad.mit.edu	37	20	49236599	49236599	+	Missense_Mutation	SNP	G	G	A	rs148432777		TCGA-RY-A840-01A-11D-A36O-08	TCGA-RY-A840-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91848fc-8730-434f-acab-791488ffe5eb	2a99e03f-024c-4750-81e0-7bcf3014ef3c	g.chr20:49236599G>A	ENST00000327979.2	-	3	592	c.181C>T	c.(181-183)Cgg>Tgg	p.R61W	FAM65C_ENST00000045083.2_Missense_Mutation_p.R61W|FAM65C_ENST00000535356.1_Missense_Mutation_p.R65W			Q96MK2	FA65C_HUMAN	family with sequence similarity 65, member C	61										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(1)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GACCCCTTCCGCAGCGTGCCG	0.547													56	59					0	0	1	0	0	A	49236599	G	A	49236599	3	1	405	1	0	0	0	0	1	0	0	0	5636	1086	38	1	2739	1	FAM65C	20	49236599	Missense_Mutation	SNP	G	TCGA-RY-A840-01A-11D-A36O-08		49236599	13788921	20	33652											
CDH4	1002	broad.mit.edu	37	20	60427938	60427938	+	Silent	SNP	C	C	T	rs146532439	byFrequency	TCGA-RY-A840-01A-11D-A36O-08	TCGA-RY-A840-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91848fc-8730-434f-acab-791488ffe5eb	2a99e03f-024c-4750-81e0-7bcf3014ef3c	g.chr20:60427938C>T	ENST00000360469.5	+	6	949	c.861C>T	c.(859-861)gaC>gaT	p.D287D	CDH4_ENST00000543233.1_Silent_p.D213D	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	287	Cadherin 2.				adherens junction organization|cell junction assembly		calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			GCTCCGTGGACGAGGGCTCCA	0.597													43	86					0	0	1	0	0	T	60427938	C	T	60427938	2	4	405	1	0	0	0	0	0	0	0	1	3134	535	19	1		1	CDH4	20	60427938	Silent	SNP	C	TCGA-RY-A840-01A-11D-A36O-08	11191339	60427938	2597582	21	33653											
BAGE2	85319	broad.mit.edu	37	21	11049382	11049382	+	RNA	DEL	T	T	-			TCGA-RY-A840-01A-11D-A36O-08	TCGA-RY-A840-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91848fc-8730-434f-acab-791488ffe5eb	2a99e03f-024c-4750-81e0-7bcf3014ef3c	g.chr21:11049382delT	ENST00000470054.1	-	0	659									B melanoma antigen family, member 2															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)		TTACACAAACTTTTAGCGCCT	0.333													14	200	---	---	---	---						-	11049382	T	-	11049382	6	5	405	0	1	1	0	1	0	0	0	0	1290	1624	56	0		0	BAGE2	21	11049382	RNA	DEL	T	TCGA-RY-A840-01A-11D-A36O-08		11049382	37080513	22	33654											
FAM3B	54097	broad.mit.edu	37	21	42694893	42694893	+	Silent	SNP	C	C	G			TCGA-RY-A840-01A-11D-A36O-08	TCGA-RY-A840-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91848fc-8730-434f-acab-791488ffe5eb	2a99e03f-024c-4750-81e0-7bcf3014ef3c	g.chr21:42694893C>G	ENST00000398652.3	+	3	246	c.180C>G	c.(178-180)gcC>gcG	p.A60A	FAM3B_ENST00000357985.2_Silent_p.A21A|FAM3B_ENST00000398646.3_Silent_p.A44A|FAM3B_ENST00000479810.2_3'UTR|FAM3B_ENST00000398647.3_Intron			P58499	FAM3B_HUMAN	family with sequence similarity 3, member B	21					apoptosis|insulin secretion	extracellular space	cytokine activity			central_nervous_system(2)|endometrium(1)|lung(2)	5		Prostate(19;1.57e-07)|all_epithelial(19;0.0404)				CCTTGTGTGCCTGGTATTCGG	0.607													35	36					0	0	1	0	0	G	42694893	C	G	42694893	2	3	405	1	0	0	0	0	0	0	0	1	5593	668	24	4		4	FAM3B	21	42694893	Silent	SNP	C	TCGA-RY-A840-01A-11D-A36O-08	31645511	42694893	5435002	23	33655											
KRTAP10-8	386681	broad.mit.edu	37	21	46032420	46032420	+	Missense_Mutation	SNP	G	G	C	rs143687357		TCGA-RY-A840-01A-11D-A36O-08	TCGA-RY-A840-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91848fc-8730-434f-acab-791488ffe5eb	2a99e03f-024c-4750-81e0-7bcf3014ef3c	g.chr21:46032420G>C	ENST00000334662.2	+	1	425	c.403G>C	c.(403-405)Gtg>Ctg	p.V135L	TSPEAR_ENST00000323084.4_Intron	NM_198695.2	NP_941968.2	P60410	KR108_HUMAN	keratin associated protein 10-8	135	19 X 5 AA repeats of C-C-X(3).					keratin filament				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	17						CGTGTGCTGCGTGTCCATCTG	0.632													79	102					0	0	1	0	0	C	46032420	G	C	46032420	3	2	405	1	0	0	0	0	1	0	0	0	8558	1145	40	5	405	5	KRTAP10-8	21	46032420	Missense_Mutation	SNP	G	TCGA-RY-A840-01A-11D-A36O-08	3337527	46032420	2097475	24	33656											
CACNA1F	778	broad.mit.edu	37	X	49062190	49062190	+	Frame_Shift_Del	DEL	C	C	-			TCGA-RY-A840-01A-11D-A36O-08	TCGA-RY-A840-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91848fc-8730-434f-acab-791488ffe5eb	2a99e03f-024c-4750-81e0-7bcf3014ef3c	g.chrX:49062190delC	ENST00000376265.2	-	47	5650	c.5589delG	c.(5587-5589)gggfs	p.G1863fs	CACNA1F_ENST00000323022.5_Frame_Shift_Del_p.G1852fs|CACNA1F_ENST00000376251.1_Frame_Shift_Del_p.G1798fs	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	1863					axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Verapamil(DB00661)	TGCCGAGGTACCCCTCCCCCG	0.647													8	2	---	---	---	---						-	49062190	C	-	49062190	7	5	405	1	0	1	0	1	0	0	0	0	2561	494	18	0	352	0	CACNA1F	23	49062190	Frame_Shift_Del	DEL	C	TCGA-RY-A840-01A-11D-A36O-08		49062190	106208370	25	33657											
INPP5B	3633	broad.mit.edu	37	1	38355310	38355310	+	Missense_Mutation	SNP	T	T	C			TCGA-RY-A843-01A-11D-A36O-08	TCGA-RY-A843-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c1fad79-014e-49fb-bacd-0862b484a2a7	06d91337-526a-41ce-8687-b598ea86b07c	g.chr1:38355310T>C	ENST00000373023.2	-	9	1049	c.956A>G	c.(955-957)cAg>cGg	p.Q319R	INPP5B_ENST00000373026.1_Missense_Mutation_p.Q319R|INPP5B_ENST00000373024.3_Missense_Mutation_p.Q239R|INPP5B_ENST00000373027.1_Missense_Mutation_p.Q75R|INPP5B_ENST00000458109.2_Missense_Mutation_p.Q2R	NM_005540.2	NP_005531.2	P32019	I5P2_HUMAN	inositol polyphosphate-5-phosphatase, 75kDa	319					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to membrane|microtubule cytoskeleton	GTPase activator activity|inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding			breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(9)|urinary_tract(1)	15	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				TCCAAACTTCTGCATGGATAA	0.408													41	75					0	0	1	0	0	C	38355310	T	C	38355310	3	2	406	1	0	0	0	0	1	0	0	0	7799	1580	55	3	2089	3	INPP5B	1	38355310	Missense_Mutation	SNP	T	TCGA-RY-A843-01A-11D-A36O-08		38355310	210895311	1	33658											
ATF6	22926	broad.mit.edu	37	1	161762027	161762027	+	Missense_Mutation	SNP	G	G	A			TCGA-RY-A843-01A-11D-A36O-08	TCGA-RY-A843-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c1fad79-014e-49fb-bacd-0862b484a2a7	06d91337-526a-41ce-8687-b598ea86b07c	g.chr1:161762027G>A	ENST00000367942.3	+	6	665	c.598G>A	c.(598-600)Gca>Aca	p.A200T		NM_007348.3	NP_031374.2	P18850	ATF6A_HUMAN	activating transcription factor 6	200				VPAK -> IPPQ (in Ref. 4; AAH14969/ AAH71997).	positive regulation of transcription from RNA polymerase II promoter involved in unfolded protein response|protein folding	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleoplasm	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(14)|ovary(3)|skin(1)|stomach(1)	34	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.00953)			CAGTGTTCCAGCAAAAACCAT	0.423													4	196					0	0	1	0	0	A	161762027	G	A	161762027	3	1	406	1	0	0	0	0	1	0	0	0	1083	971	34	2	620	2	ATF6	1	161762027	Missense_Mutation	SNP	G	TCGA-RY-A843-01A-11D-A36O-08	123406717	161762027	87488594	2	33659											
C1orf65	164127	broad.mit.edu	37	1	223567708	223567708	+	Silent	SNP	C	C	T			TCGA-RY-A843-01A-11D-A36O-08	TCGA-RY-A843-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c1fad79-014e-49fb-bacd-0862b484a2a7	06d91337-526a-41ce-8687-b598ea86b07c	g.chr1:223567708C>T	ENST00000366875.3	+	1	994	c.891C>T	c.(889-891)acC>acT	p.T297T		NM_152610.2	NP_689823.2	Q8N715	CA065_HUMAN	chromosome 1 open reading frame 65	297										breast(4)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|skin(3)	29				GBM - Glioblastoma multiforme(131;0.0704)		TCCAGATGACCCTGGAGCGGG	0.672													3	6					0	0	1	0	0	T	223567708	C	T	223567708	2	4	406	1	0	0	0	0	0	0	0	1	2069	610	22	2		2	C1orf65	1	223567708	Silent	SNP	C	TCGA-RY-A843-01A-11D-A36O-08	61805681	223567708	25682913	3	33660											
GGPS1	9453	broad.mit.edu	37	1	235505740	235505740	+	Missense_Mutation	SNP	A	A	G			TCGA-RY-A843-01A-11D-A36O-08	TCGA-RY-A843-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c1fad79-014e-49fb-bacd-0862b484a2a7	06d91337-526a-41ce-8687-b598ea86b07c	g.chr1:235505740A>G	ENST00000282841.5	+	4	788	c.556A>G	c.(556-558)Att>Gtt	p.I186V	GGPS1_ENST00000488594.1_Missense_Mutation_p.I186V|GGPS1_ENST00000391855.2_Missense_Mutation_p.I132V|GGPS1_ENST00000476121.1_Missense_Mutation_p.I186V|GGPS1_ENST00000358966.2_Missense_Mutation_p.I186V			O95749	GGPPS_HUMAN	geranylgeranyl diphosphate synthase 1	186					cholesterol biosynthetic process|isoprenoid biosynthetic process	cytosol|soluble fraction	dimethylallyltranstransferase activity|farnesyltranstransferase activity|geranyltranstransferase activity|metal ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	8	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00192)|Prostate(94;0.0294)|all_epithelial(177;0.155)|Lung SC(1967;0.238)	OV - Ovarian serous cystadenocarcinoma(106;1.39e-05)			CTTTTTCCAAATTAGGGATGA	0.358													22	51					0	0	1	0	0	G	235505740	A	G	235505740	3	3	406	1	0	0	0	0	1	0	0	0	6402	101	4	3	566	3	GGPS1	1	235505740	Missense_Mutation	SNP	A	TCGA-RY-A843-01A-11D-A36O-08	11938032	235505740	13744881	4	33661											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-RY-A843-01A-11D-A36O-08	TCGA-RY-A843-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c1fad79-014e-49fb-bacd-0862b484a2a7	06d91337-526a-41ce-8687-b598ea86b07c	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	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								18	44					0	0	1	0	0	T	209113112	C	T	209113112	3	4	406	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-RY-A843-01A-11D-A36O-08		209113112	34086261	5	33662											
PITX1	5307	broad.mit.edu	37	5	134367042	134367042	+	Missense_Mutation	SNP	T	T	C			TCGA-RY-A843-01A-11D-A36O-08	TCGA-RY-A843-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c1fad79-014e-49fb-bacd-0862b484a2a7	06d91337-526a-41ce-8687-b598ea86b07c	g.chr5:134367042T>C	ENST00000265340.7	-	2	742	c.326A>G	c.(325-327)cAg>cGg	p.Q109R	PITX1_ENST00000506438.1_Missense_Mutation_p.Q109R	NM_002653.4	NP_002644.4	P78337	PITX1_HUMAN	paired-like homeodomain 1	109						nucleolus	sequence-specific DNA binding			central_nervous_system(1)|cervix(3)|endometrium(3)|large_intestine(1)|lung(5)|ovary(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)	READ - Rectum adenocarcinoma(2;0.0607)		GCGGTTCCTCTGGAACGTGGC	0.647													22	24					0	0	1	0	0	C	134367042	T	C	134367042	3	2	406	1	0	0	0	0	1	0	0	0	12002	1580	55	3	626	3	PITX1	5	134367042	Missense_Mutation	SNP	T	TCGA-RY-A843-01A-11D-A36O-08		134367042	46548218	6	33663											
SENP6	26054	broad.mit.edu	37	6	76412532	76412533	+	Frame_Shift_Ins	INS	-	-	A			TCGA-RY-A843-01A-11D-A36O-08	TCGA-RY-A843-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c1fad79-014e-49fb-bacd-0862b484a2a7	06d91337-526a-41ce-8687-b598ea86b07c	g.chr6:76412532_76412533insA	ENST00000370014.3	+	19	3079_3080	c.2460_2461insA	c.(2461-2463)aagfs	p.K821fs	SENP6_ENST00000541192.1_Intron|SENP6_ENST00000370010.2_Frame_Shift_Ins_p.K814fs|SENP6_ENST00000447266.2_Frame_Shift_Ins_p.K821fs	NM_001100409.1	NP_001093879.1	Q9GZR1	SENP6_HUMAN	SUMO1/sentrin specific peptidase 6	821	Protease.				proteolysis	cytoplasm|nucleus	cysteine-type peptidase activity			breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(105;0.189)				ACTCTTCTGCCAAGCCTGTAAT	0.381													20	54	---	---	---	---						A	76412533	-	A	76412532	7	5	406	1	0	1	1	0	0	0	0	0	14104	581	21	0	2534	0	SENP6	6	76412532	Frame_Shift_Ins	INS	-	TCGA-RY-A843-01A-11D-A36O-08		76412532	94702535	7	33664											
RBPMS	11030	broad.mit.edu	37	8	30335338	30335338	+	Silent	SNP	G	G	A			TCGA-RY-A843-01A-11D-A36O-08	TCGA-RY-A843-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c1fad79-014e-49fb-bacd-0862b484a2a7	06d91337-526a-41ce-8687-b598ea86b07c	g.chr8:30335338G>A	ENST00000320203.4	+	3	750	c.168G>A	c.(166-168)aaG>aaA	p.K56K	RBPMS_ENST00000520161.1_5'UTR|RBPMS_ENST00000538486.1_Silent_p.K56K|RBPMS_ENST00000519647.1_5'UTR|RBPMS_ENST00000287771.5_Silent_p.K56K|RBPMS_ENST00000397323.4_Silent_p.K56K|RBPMS_ENST00000517860.1_Silent_p.K56K|RBPMS_ENST00000520191.1_5'UTR|RBPMS_ENST00000339877.4_Silent_p.K56K	NM_006867.2	NP_006858.1	Q93062	RBPMS_HUMAN	RNA binding protein with multiple splicing	56	RRM.				positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	cytoplasm|nucleus	nucleotide binding|poly(A) RNA binding|protein binding|transcription coactivator activity			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	13				KIRC - Kidney renal clear cell carcinoma(542;0.144)|Kidney(114;0.172)		CTCTTATAAAGCTCACATCTA	0.323													12	25					0	0	1	0	0	A	30335338	G	A	30335338	2	1	406	1	0	0	0	0	0	0	0	1	13215	962	34	2		2	RBPMS	8	30335338	Silent	SNP	G	TCGA-RY-A843-01A-11D-A36O-08		30335338	116028684	8	33665											
TMEM74	157753	broad.mit.edu	37	8	109796648	109796648	+	Missense_Mutation	SNP	T	T	C			TCGA-RY-A843-01A-11D-A36O-08	TCGA-RY-A843-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c1fad79-014e-49fb-bacd-0862b484a2a7	06d91337-526a-41ce-8687-b598ea86b07c	g.chr8:109796648T>C	ENST00000297459.3	-	2	858	c.680A>G	c.(679-681)cAc>cGc	p.H227R	TMEM74_ENST00000518838.1_Intron	NM_153015.1	NP_694560.1	Q96NL1	TMM74_HUMAN	transmembrane protein 74	227					autophagy	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane|lysosomal membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(57;3.08e-10)			GCGGTCCAGGTGAGCCCCCAG	0.612													12	30					0	0	1	0	0	C	109796648	T	C	109796648	3	2	406	1	0	0	0	0	1	0	0	0	16262	1696	59	3	241	3	TMEM74	8	109796648	Missense_Mutation	SNP	T	TCGA-RY-A843-01A-11D-A36O-08	79461310	109796648	36567374	9	33666											
ASAP1	50807	broad.mit.edu	37	8	131104362	131104362	+	Missense_Mutation	SNP	G	G	C			TCGA-RY-A843-01A-11D-A36O-08	TCGA-RY-A843-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c1fad79-014e-49fb-bacd-0862b484a2a7	06d91337-526a-41ce-8687-b598ea86b07c	g.chr8:131104362G>C	ENST00000357668.1	-	24	2456	c.2429C>G	c.(2428-2430)cCt>cGt	p.P810R	ASAP1_ENST00000518721.1_Missense_Mutation_p.P810R			Q9ULH1	ASAP1_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	810	Pro-rich.				cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						GGTGCTTAGAGGGAGTGTTGA	0.537													12	28					0	0	1	0	0	C	131104362	G	C	131104362	3	2	406	1	0	0	0	0	1	0	0	0	1009	1000	35	4	984	4	ASAP1	8	131104362	Missense_Mutation	SNP	G	TCGA-RY-A843-01A-11D-A36O-08	21307714	131104362	15259660	10	33667											
LAMC3	10319	broad.mit.edu	37	9	133948658	133948658	+	Silent	SNP	G	G	A			TCGA-RY-A843-01A-11D-A36O-08	TCGA-RY-A843-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c1fad79-014e-49fb-bacd-0862b484a2a7	06d91337-526a-41ce-8687-b598ea86b07c	g.chr9:133948658G>A	ENST00000361069.4	+	20	3577	c.3444G>A	c.(3442-3444)caG>caA	p.Q1148Q	LAMC3_ENST00000480883.1_Intron	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	1148	Domain II and I.				cell adhesion	basement membrane|membrane	structural molecule activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		GTCCCAGTCAGCCGACCAAAT	0.582													20	21					0	0	1	0	0	A	133948658	G	A	133948658	2	1	406	1	0	0	0	0	0	0	0	1	8655	962	34	2		2	LAMC3	9	133948658	Silent	SNP	G	TCGA-RY-A843-01A-11D-A36O-08		133948658	7264773	11	33668											
ZMIZ1	57178	broad.mit.edu	37	10	81052057	81052057	+	Missense_Mutation	SNP	G	G	A			TCGA-RY-A843-01A-11D-A36O-08	TCGA-RY-A843-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c1fad79-014e-49fb-bacd-0862b484a2a7	06d91337-526a-41ce-8687-b598ea86b07c	g.chr10:81052057G>A	ENST00000334512.5	+	11	1473	c.901G>A	c.(901-903)Gcc>Acc	p.A301T	ZMIZ1_ENST00000478357.1_3'UTR	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	301	Ala-rich.				transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			CACAGCCACGGCCACTGTGGC	0.637													21	58					0	0	1	0	0	A	81052057	G	A	81052057	3	1	406	1	0	0	0	0	1	0	0	0	17754	1203	42	2	927	2	ZMIZ1	10	81052057	Missense_Mutation	SNP	G	TCGA-RY-A843-01A-11D-A36O-08		81052057	54482690	12	33669											
TNKS2	80351	broad.mit.edu	37	10	93590772	93590772	+	Splice_Site	SNP	G	G	C			TCGA-RY-A843-01A-11D-A36O-08	TCGA-RY-A843-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c1fad79-014e-49fb-bacd-0862b484a2a7	06d91337-526a-41ce-8687-b598ea86b07c	g.chr10:93590772G>C	ENST00000371627.4	+	10	1575		c.e10+1			NM_025235.3	NP_079511.1	Q9H2K2	TNKS2_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 2						positive regulation of canonical Wnt receptor signaling pathway|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein polyubiquitination|Wnt receptor signaling pathway	Golgi membrane|microsome|nuclear envelope|pericentriolar material|perinuclear region of cytoplasm	NAD+ ADP-ribosyltransferase activity|protein binding			biliary_tract(1)|breast(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	48		Colorectal(252;0.162)				AGACTAAAGAGTAAGTATACA	0.313													3	49					0	0	1	0	0	C	93590772	G	C	93590772	5	2	406	1	0	0	0	0	0	0	1	0	16381	1043	36	4	1235	4	TNKS2	10	93590772	Splice_Site	SNP	G	TCGA-RY-A843-01A-11D-A36O-08	12538715	93590772	41943975	13	33670											
CALHM1	255022	broad.mit.edu	37	10	105215289	105215289	+	Silent	SNP	G	G	A			TCGA-RY-A843-01A-11D-A36O-08	TCGA-RY-A843-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c1fad79-014e-49fb-bacd-0862b484a2a7	06d91337-526a-41ce-8687-b598ea86b07c	g.chr10:105215289G>A	ENST00000329905.5	-	2	907	c.771C>T	c.(769-771)gaC>gaT	p.D257D	RP11-225H22.4_ENST00000411906.1_RNA	NM_001001412.3	NP_001001412.3	Q8IU99	CAHM1_HUMAN	calcium homeostasis modulator 1	257						endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium channel activity|identical protein binding			large_intestine(2)|liver(1)|lung(5)|ovary(1)	9						CCAGCTCCAGGTCATGGTTCA	0.637													5	14					0	0	1	0	0	A	105215289	G	A	105215289	2	1	406	1	0	0	0	0	0	0	0	1	2600	1252	44	2		2	CALHM1	10	105215289	Silent	SNP	G	TCGA-RY-A843-01A-11D-A36O-08	11624517	105215289	30319458	14	33671											
KNDC1	85442	broad.mit.edu	37	10	135003172	135003172	+	Splice_Site	SNP	C	C	T			TCGA-RY-A843-01A-11D-A36O-08	TCGA-RY-A843-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c1fad79-014e-49fb-bacd-0862b484a2a7	06d91337-526a-41ce-8687-b598ea86b07c	g.chr10:135003172C>T	ENST00000304613.3	+	8	1533	c.1512C>T	c.(1510-1512)aaC>aaT	p.N504N	KNDC1_ENST00000368571.2_Splice_Site_p.N439N|KNDC1_ENST00000368572.2_Splice_Site_p.N504N			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	504	KIND 2.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction					NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		CCCCTGCCAACGGTGAGTGTG	0.622													5	17					0	0	1	0	0	T	135003172	C	T	135003172	5	4	406	1	0	0	0	0	0	0	1	0	8469	550	19	1	1542	1	KNDC1	10	135003172	Splice_Site	SNP	C	TCGA-RY-A843-01A-11D-A36O-08	29787883	135003172	531575	15	33672											
KRAS	3845	broad.mit.edu	37	12	25398269	25398269	+	Missense_Mutation	SNP	C	C	G			TCGA-RY-A843-01A-11D-A36O-08	TCGA-RY-A843-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c1fad79-014e-49fb-bacd-0862b484a2a7	06d91337-526a-41ce-8687-b598ea86b07c	g.chr12:25398269C>G	ENST00000311936.3	-	2	241	c.50G>C	c.(49-51)aGt>aCt	p.S17T	KRAS_ENST00000557334.1_Missense_Mutation_p.S17T|KRAS_ENST00000256078.4_Missense_Mutation_p.S17T|KRAS_ENST00000556131.1_Missense_Mutation_p.S17T	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	17					activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.S17N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			CGTCAAGGCACTCTTGCCTAC	0.358		119	Mis		"pancreatic, colorectal, lung, thyroid, AML, others"				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			11	24					0	0	1	0	0	G	25398269	C	G	25398269	3	3	406	1	0	0	0	0	1	0	0	0	8481	565	20	4	656	4	KRAS	12	25398269	Missense_Mutation	SNP	C	TCGA-RY-A843-01A-11D-A36O-08		25398269	108453626	16	33673			1	42		2	2	16	C		1.405176e-05
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	G	rs121913529		TCGA-RY-A843-01A-11D-A36O-08	TCGA-RY-A843-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c1fad79-014e-49fb-bacd-0862b484a2a7	06d91337-526a-41ce-8687-b598ea86b07c	g.chr12:25398284C>G	ENST00000311936.3	-	2	226	c.35G>C	c.(34-36)gGt>gCt	p.G12A	KRAS_ENST00000557334.1_Missense_Mutation_p.G12A|KRAS_ENST00000256078.4_Missense_Mutation_p.G12A|KRAS_ENST00000556131.1_Missense_Mutation_p.G12A	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"pancreatic, colorectal, lung, thyroid, AML, others"				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			12	24					0	0	1	0	0	G	25398284	C	G	25398284	3	3	406	1	0	0	0	0	1	0	0	0	8481	507	18	5	671	5	KRAS	12	25398284	Missense_Mutation	SNP	C	TCGA-RY-A843-01A-11D-A36O-08	15	25398284	108453611	17	33674			1	42		2	2	16	C		1.405176e-05
KRT6B	3854	broad.mit.edu	37	12	52841730	52841730	+	Missense_Mutation	SNP	G	G	A			TCGA-RY-A843-01A-11D-A36O-08	TCGA-RY-A843-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c1fad79-014e-49fb-bacd-0862b484a2a7	06d91337-526a-41ce-8687-b598ea86b07c	g.chr12:52841730G>A	ENST00000252252.3	-	7	1303	c.1256C>T	c.(1255-1257)gCc>gTc	p.A419V		NM_005555.3	NP_005546.2	P04259	K2C6B_HUMAN	keratin 6B	419	Coil 2.|Rod.				ectoderm development	keratin filament	structural constituent of cytoskeleton			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(19)|ovary(4)|prostate(2)	40				BRCA - Breast invasive adenocarcinoma(357;0.083)		ATCCTTGAGGGCCATCTCCCC	0.577													5	74					0	0	1	0	0	A	52841730	G	A	52841730	3	1	406	1	0	0	0	0	1	0	0	0	8524	1203	42	2	450	2	KRT6B	12	52841730	Missense_Mutation	SNP	G	TCGA-RY-A843-01A-11D-A36O-08	27443446	52841730	81010165	18	33675											
VPS18	57617	broad.mit.edu	37	15	41191890	41191890	+	Missense_Mutation	SNP	G	G	T			TCGA-RY-A843-01A-11D-A36O-08	TCGA-RY-A843-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c1fad79-014e-49fb-bacd-0862b484a2a7	06d91337-526a-41ce-8687-b598ea86b07c	g.chr15:41191890G>T	ENST00000220509.5	+	4	1213	c.874G>T	c.(874-876)Gtg>Ttg	p.V292L	VPS18_ENST00000558474.1_Intron	NM_020857.2	NP_065908.1	Q9P253	VPS18_HUMAN	vacuolar protein sorting 18 homolog (S. cerevisiae)	292					endosome organization|lysosome organization|protein transport	HOPS complex|late endosome membrane|lysosomal membrane	metal ion binding|protein binding			autonomic_ganglia(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	28		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)		GGGGGATGGTGTGTTGTATGG	0.652													21	47					1.00905e-13	1.00905e-13	1	1	0	T	41191890	G	T	41191890	3	4	406	1	0	0	0	0	1	0	0	0	17254	1377	48	5	888	5	VPS18	15	41191890	Missense_Mutation	SNP	G	TCGA-RY-A843-01A-11D-A36O-08		41191890	61339502	19	33676											
DDX42	11325	broad.mit.edu	37	17	61890672	61890672	+	Missense_Mutation	SNP	G	G	A			TCGA-RY-A843-01A-11D-A36O-08	TCGA-RY-A843-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c1fad79-014e-49fb-bacd-0862b484a2a7	06d91337-526a-41ce-8687-b598ea86b07c	g.chr17:61890672G>A	ENST00000578681.1	+	16	2361	c.1760G>A	c.(1759-1761)gGc>gAc	p.G587D	DDX42_ENST00000583590.1_Missense_Mutation_p.G587D|DDX42_ENST00000457800.2_Missense_Mutation_p.G587D|DDX42_ENST00000389924.2_Missense_Mutation_p.G587D|DDX42_ENST00000359353.5_Missense_Mutation_p.G468D	NM_007372.2	NP_031398.2	Q86XP3	DDX42_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 42	587	Helicase C-terminal.				protein localization|regulation of anti-apoptosis	Cajal body|cytoplasm|nuclear speck	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)	46						CATAGGATTGGCCGCACAGGA	0.498													12	32					0	0	1	0	0	A	61890672	G	A	61890672	3	1	406	1	0	0	0	0	1	0	0	0	4385	1203	42	2	1814	2	DDX42	17	61890672	Missense_Mutation	SNP	G	TCGA-RY-A843-01A-11D-A36O-08		61890672	19304538	20	33677											
DNAH17	8632	broad.mit.edu	37	17	76490800	76490800	+	Missense_Mutation	SNP	G	G	A	rs144975660	by1000genomes	TCGA-RY-A843-01A-11D-A36O-08	TCGA-RY-A843-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c1fad79-014e-49fb-bacd-0862b484a2a7	06d91337-526a-41ce-8687-b598ea86b07c	g.chr17:76490800G>A	ENST00000389840.5	-	40	6227	c.6103C>T	c.(6103-6105)Cgg>Tgg	p.R2035W	RP11-559N14.5_ENST00000591373.1_RNA|DNAH17_ENST00000585328.1_Missense_Mutation_p.R2044W					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			CTCAGCGCCCGCATGAGCACC	0.627													3	40					0	0	1	0	0	A	76490800	G	A	76490800	3	1	406	1	0	0	0	0	1	0	0	0	4629	1086	38	1	7411	1	DNAH17	17	76490800	Missense_Mutation	SNP	G	TCGA-RY-A843-01A-11D-A36O-08	14600128	76490800	4704410	21	33678											
SMCHD1	23347	broad.mit.edu	37	18	2750108	2750108	+	Frame_Shift_Del	DEL	T	T	-			TCGA-RY-A843-01A-11D-A36O-08	TCGA-RY-A843-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c1fad79-014e-49fb-bacd-0862b484a2a7	06d91337-526a-41ce-8687-b598ea86b07c	g.chr18:2750108delT	ENST00000320876.6	+	31	4333	c.3995delT	c.(3994-3996)gttfs	p.V1332fs	SMCHD1_ENST00000261598.8_Frame_Shift_Del_p.V1332fs|RP11-703M24.5_ENST00000583546.1_RNA	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1	1332					chromosome organization		ATP binding			NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						GTATTCAGTGTTTTTGCCCCT	0.368													2	4	---	---	---	---						-	2750108	T	-	2750108	7	5	406	1	0	1	0	1	0	0	0	0	14842	1725	60	0	4117	0	SMCHD1	18	2750108	Frame_Shift_Del	DEL	T	TCGA-RY-A843-01A-11D-A36O-08		2750108	75327140	22	33679											
ZNF565	147929	broad.mit.edu	37	19	36674609	36674609	+	Silent	SNP	G	G	A			TCGA-RY-A843-01A-11D-A36O-08	TCGA-RY-A843-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c1fad79-014e-49fb-bacd-0862b484a2a7	06d91337-526a-41ce-8687-b598ea86b07c	g.chr19:36674609G>A	ENST00000355114.5	-	5	1105	c.379C>T	c.(379-381)Cta>Tta	p.L127L	ZNF565_ENST00000304116.5_Silent_p.L87L|ZNF565_ENST00000392173.2_Silent_p.L87L			Q8N9K5	ZN565_HUMAN	zinc finger protein 565	87					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(4)|lung(4)|ovary(1)|skin(2)	11	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.206)			TCTTTTTGTAGAAATTTCTCA	0.383													26	62					0	0	1	0	0	A	36674609	G	A	36674609	2	1	406	1	0	0	0	0	0	0	0	1	18053	933	33	2		2	ZNF565	19	36674609	Silent	SNP	G	TCGA-RY-A843-01A-11D-A36O-08		36674609	22454374	23	33680											
FOXA2	3170	broad.mit.edu	37	20	22563350	22563350	+	Missense_Mutation	SNP	G	G	A			TCGA-RY-A843-01A-11D-A36O-08	TCGA-RY-A843-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c1fad79-014e-49fb-bacd-0862b484a2a7	06d91337-526a-41ce-8687-b598ea86b07c	g.chr20:22563350G>A	ENST00000419308.2	-	2	714	c.530C>T	c.(529-531)gCc>gTc	p.A177V	FOXA2_ENST00000377115.4_Missense_Mutation_p.A171V	NM_021784.4	NP_068556.2	Q9Y261	FOXA2_HUMAN	forkhead box A2	177					cell differentiation in hindbrain|central nervous system myelin formation|chromatin modification|dorsal/ventral neural tube patterning|ectoderm formation|endocrine pancreas development|endoderm development|epithelial tube branching involved in lung morphogenesis|in utero embryonic development|lung epithelial cell differentiation|negative regulation of neuron differentiation|neuron fate specification|oligodendrocyte cell fate commitment|positive regulation of embryonic development|positive regulation of gastrulation|positive regulation of neuron differentiation|primitive streak formation|regulation of blood coagulation|regulation of sequence-specific DNA binding transcription factor activity|response to interleukin-6	cytoplasm|transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			breast(1)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|urinary_tract(1)	22	Lung NSC(19;0.188)					CTGCTGGATGGCCATGGTGAT	0.637													18	52					0	0	1	0	0	A	22563350	G	A	22563350	3	1	406	1	0	0	0	0	1	0	0	0	6023	1203	42	2	865	2	FOXA2	20	22563350	Missense_Mutation	SNP	G	TCGA-RY-A843-01A-11D-A36O-08		22563350	40462170	24	33681											
PDRG1	81572	broad.mit.edu	37	20	30539716	30539716	+	Frame_Shift_Del	DEL	C	C	-			TCGA-RY-A843-01A-11D-A36O-08	TCGA-RY-A843-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c1fad79-014e-49fb-bacd-0862b484a2a7	06d91337-526a-41ce-8687-b598ea86b07c	g.chr20:30539716delC	ENST00000202017.4	-	1	179	c.49delG	c.(49-51)gagfs	p.E18fs		NM_030815.2	NP_110442.1	Q9NUG6	PDRG1_HUMAN	p53 and DNA-damage regulated 1	18					protein folding	prefoldin complex	unfolded protein binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|skin(1)|stomach(1)	8			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			GCGAGCTCCTCCACTTCTACA	0.711											OREG0025859	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2	4	---	---	---	---						-	30539716	C	-	30539716	7	5	406	1	0	1	0	1	0	0	0	0	11737	864	30	0	372	0	PDRG1	20	30539716	Frame_Shift_Del	DEL	C	TCGA-RY-A843-01A-11D-A36O-08	7976366	30539716	32485804	25	33682											
TMPRSS15	5651	broad.mit.edu	37	21	19726144	19726144	+	Missense_Mutation	SNP	A	A	G			TCGA-RY-A843-01A-11D-A36O-08	TCGA-RY-A843-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c1fad79-014e-49fb-bacd-0862b484a2a7	06d91337-526a-41ce-8687-b598ea86b07c	g.chr21:19726144A>G	ENST00000284885.3	-	9	950	c.917T>C	c.(916-918)aTt>aCt	p.I306T		NM_002772.2	NP_002763	P98073	ENTK_HUMAN	transmembrane protease, serine 15	306	CUB 1.				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						GTTGGAAAAAATTCTTATTGT	0.323													18	48					0	0	1	0	0	G	19726144	A	G	19726144	3	3	406	1	0	0	0	0	1	0	0	0	16306	101	4	3	2210	3	TMPRSS15	21	19726144	Missense_Mutation	SNP	A	TCGA-RY-A843-01A-11D-A36O-08		19726144	28403751	26	33683											
RTDR1	27156	broad.mit.edu	37	22	23406094	23406094	+	Silent	SNP	C	C	T			TCGA-RY-A843-01A-11D-A36O-08	TCGA-RY-A843-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c1fad79-014e-49fb-bacd-0862b484a2a7	06d91337-526a-41ce-8687-b598ea86b07c	g.chr22:23406094C>T	ENST00000216036.4	-	5	835	c.639G>A	c.(637-639)gcG>gcA	p.A213A		NM_014433.2	NP_055248.1	Q9UHP6	RTDR1_HUMAN	rhabdoid tumor deletion region gene 1	213							binding			breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	18	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.175)		CATTAAGGAGCGCACGGGCGG	0.632													8	15					0	0	1	0	0	T	23406094	C	T	23406094	2	4	406	1	0	0	0	0	0	0	0	1	13771	755	27	1		1	RTDR1	22	23406094	Silent	SNP	C	TCGA-RY-A843-01A-11D-A36O-08		23406094	27898472	27	33684											
OCRL	4952	broad.mit.edu	37	X	128703312	128703312	+	Missense_Mutation	SNP	A	A	G	rs137853847		TCGA-RY-A843-01A-11D-A36O-08	TCGA-RY-A843-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c1fad79-014e-49fb-bacd-0862b484a2a7	06d91337-526a-41ce-8687-b598ea86b07c	g.chrX:128703312A>G	ENST00000371113.4	+	15	1703	c.1538A>G	c.(1537-1539)tAt>tGt	p.Y513C	OCRL_ENST00000357121.5_Missense_Mutation_p.Y513C	NM_000276.3	NP_000267.2	Q01968	OCRL_HUMAN	oculocerebrorenal syndrome of Lowe	513			Y -> C (in OCRL; dbSNP:rs137853847).		regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	clathrin-coated vesicle|cytosol|early endosome|Golgi stack|Golgi-associated vesicle	GTPase activator activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding			breast(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|upper_aerodigestive_tract(3)	48						CAGCTTAATTATCGGAGTCAC	0.423													46	27					0	0	1	0	0	G	128703312	A	G	128703312	3	3	406	1	0	0	0	0	1	0	0	0	10871	449	16	3	1596	3	OCRL	23	128703312	Missense_Mutation	SNP	A	TCGA-RY-A843-01A-11D-A36O-08		128703312	26567248	28	33685											
MAGEA8	4107	broad.mit.edu	37	X	149013062	149013062	+	Frame_Shift_Del	DEL	A	A	-			TCGA-RY-A843-01A-11D-A36O-08	TCGA-RY-A843-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c1fad79-014e-49fb-bacd-0862b484a2a7	06d91337-526a-41ce-8687-b598ea86b07c	g.chrX:149013062delA	ENST00000535454.1	+	4	565	c.16delA	c.(16-18)aagfs	p.K6fs	MAGEA8_ENST00000542674.1_Frame_Shift_Del_p.K6fs|MAGEA8_ENST00000286482.1_Frame_Shift_Del_p.K6fs|MAGEA8_ENST00000493910.1_3'UTR	NM_001166400.1	NP_001159872.1	P43361	MAGA8_HUMAN	melanoma antigen family A, 8	6										NS(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(12)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(192;6.56e-05)					TCTTGGGCAGAAGAGTCAGCG	0.602													2	4	---	---	---	---						-	149013062	A	-	149013062	7	5	406	1	0	1	0	1	0	0	0	0	9219	247	9	0	18	0	MAGEA8	23	149013062	Frame_Shift_Del	DEL	A	TCGA-RY-A843-01A-11D-A36O-08	20309750	149013062	6257498	29	33686											
TDRD5	163589	broad.mit.edu	37	1	179562904	179562904	+	Missense_Mutation	SNP	C	C	T			TCGA-RY-A845-01A-11D-A36O-08	TCGA-RY-A845-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c8982e-804e-4764-a72a-d8707bc9ce56	51047352-2d68-4cf2-8c7d-8840010175ca	g.chr1:179562904C>T	ENST00000444136.1	+	3	792	c.542C>T	c.(541-543)gCg>gTg	p.A181V	TDRD5_ENST00000294848.8_Missense_Mutation_p.A181V|TDRD5_ENST00000367614.1_Missense_Mutation_p.A181V	NM_001199085.1|NM_001199089.1	NP_001186014.1|NP_001186018.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	181	Lotus/OST-HTH 2.				DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						GTGCTTAATGCGGCTTCAGAT	0.408													3	70					0	0	1	0	0	T	179562904	C	T	179562904	3	4	407	1	0	0	0	0	1	0	0	0	15792	768	27	1	548	1	TDRD5	1	179562904	Missense_Mutation	SNP	C	TCGA-RY-A845-01A-11D-A36O-08		179562904	69687717	1	33687											
SUSD4	55061	broad.mit.edu	37	1	223536659	223536659	+	Nonsense_Mutation	SNP	G	G	A			TCGA-RY-A845-01A-11D-A36O-08	TCGA-RY-A845-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c8982e-804e-4764-a72a-d8707bc9ce56	51047352-2d68-4cf2-8c7d-8840010175ca	g.chr1:223536659G>A	ENST00000343846.3	-	1	742	c.109C>T	c.(109-111)Cag>Tag	p.Q37*	SUSD4_ENST00000478605.1_5'UTR|SUSD4_ENST00000484758.2_Nonsense_Mutation_p.Q37*|SUSD4_ENST00000366877.3_Nonsense_Mutation_p.Q37*|SUSD4_ENST00000366878.4_Nonsense_Mutation_p.Q37*|SUSD4_ENST00000344029.6_Nonsense_Mutation_p.Q37*|SUSD4_ENST00000494793.2_Nonsense_Mutation_p.Q37*|SUSD4_ENST00000454695.2_5'UTR			Q5VX71	SUSD4_HUMAN	sushi domain containing 4	37						integral to membrane				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(131;0.0611)		AGCGCCAGCTGAAACCACAGG	0.617													3	2					0	0	1	0	0	A	223536659	G	A	223536659	4	1	407	1	0	0	0	0	0	1	0	0	15466	1299	45	2	1548	2	SUSD4	1	223536659	Nonsense_Mutation	SNP	G	TCGA-RY-A845-01A-11D-A36O-08	43973755	223536659	25713962	2	33688											
URB2	9816	broad.mit.edu	37	1	229770818	229770818	+	Missense_Mutation	SNP	T	T	A			TCGA-RY-A845-01A-11D-A36O-08	TCGA-RY-A845-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c8982e-804e-4764-a72a-d8707bc9ce56	51047352-2d68-4cf2-8c7d-8840010175ca	g.chr1:229770818T>A	ENST00000258243.2	+	4	594	c.458T>A	c.(457-459)cTt>cAt	p.L153H		NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	153						nucleolus				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						CTGAGCCAGCTTTGCTGGTCG	0.587													9	47					0	0	1	0	0	A	229770818	T	A	229770818	3	1	407	1	0	0	0	0	1	0	0	0	17085	1609	56	5	468	5	URB2	1	229770818	Missense_Mutation	SNP	T	TCGA-RY-A845-01A-11D-A36O-08	6234159	229770818	19479803	3	33689											
CRIM1	51232	broad.mit.edu	37	2	36737265	36737265	+	Silent	SNP	T	T	C			TCGA-RY-A845-01A-11D-A36O-08	TCGA-RY-A845-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c8982e-804e-4764-a72a-d8707bc9ce56	51047352-2d68-4cf2-8c7d-8840010175ca	g.chr2:36737265T>C	ENST00000280527.2	+	9	2008	c.1641T>C	c.(1639-1641)taT>taC	p.Y547Y		NM_016441.2	NP_057525.1	Q9NZV1	CRIM1_HUMAN	cysteine rich transmembrane BMP regulator 1 (chordin-like)	547	Antistasin-like 3.				nervous system development|regulation of cell growth	extracellular region|integral to membrane|plasma membrane	insulin-like growth factor binding|insulin-like growth factor receptor activity|serine-type endopeptidase inhibitor activity			autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(15)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	45		all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154)				GTGACAAGTATTGTCCACTTG	0.403													6	60					0	0	1	0	0	C	36737265	T	C	36737265	2	2	407	1	0	0	0	0	0	0	0	1	3896	1500	52	3		3	CRIM1	2	36737265	Silent	SNP	T	TCGA-RY-A845-01A-11D-A36O-08		36737265	206462108	4	33690											
SRBD1	55133	broad.mit.edu	37	2	45807076	45807076	+	Missense_Mutation	SNP	C	C	T			TCGA-RY-A845-01A-11D-A36O-08	TCGA-RY-A845-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c8982e-804e-4764-a72a-d8707bc9ce56	51047352-2d68-4cf2-8c7d-8840010175ca	g.chr2:45807076C>T	ENST00000263736.4	-	7	1072	c.1010G>A	c.(1009-1011)aGg>aAg	p.R337K		NM_018079.4	NP_060549.4	Q8N5C6	SRBD1_HUMAN	S1 RNA binding domain 1	337					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		hydrolase activity, acting on ester bonds|RNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(13)|large_intestine(8)|lung(15)|skin(2)|stomach(1)|urinary_tract(1)	49		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)			AAGCAGTGCCCTGGCTGCTCC	0.438													14	129					0	0	1	0	0	T	45807076	C	T	45807076	3	4	407	1	0	0	0	0	1	0	0	0	15189	681	24	2	2037	2	SRBD1	2	45807076	Missense_Mutation	SNP	C	TCGA-RY-A845-01A-11D-A36O-08	9069811	45807076	197392297	5	33691											
IMMT	10989	broad.mit.edu	37	2	86398455	86398455	+	Silent	SNP	C	C	T			TCGA-RY-A845-01A-11D-A36O-08	TCGA-RY-A845-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c8982e-804e-4764-a72a-d8707bc9ce56	51047352-2d68-4cf2-8c7d-8840010175ca	g.chr2:86398455C>T	ENST00000410111.3	-	5	822	c.435G>A	c.(433-435)gcG>gcA	p.A145A	IMMT_ENST00000254636.5_Intron|IMMT_ENST00000442664.2_Silent_p.A145A|IMMT_ENST00000449247.2_Intron|IMMT_ENST00000409051.2_Intron	NM_001100169.1|NM_001100170.1|NM_006839.2	NP_001093639.1|NP_001093640.1|NP_006830.2	Q16891	IMMT_HUMAN	inner membrane protein, mitochondrial	145				EAAQIISA -> ARAPASLT (in Ref. 9; AAF73126).		integral to mitochondrial inner membrane	protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						TAATTTGAGCCGCTTCTGTAG	0.433													4	11					0	0	1	0	0	T	86398455	C	T	86398455	2	4	407	1	0	0	0	0	0	0	0	1	7762	639	23	1		1	IMMT	2	86398455	Silent	SNP	C	TCGA-RY-A845-01A-11D-A36O-08	40591379	86398455	156800918	6	33692											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-RY-A845-01A-11D-A36O-08	TCGA-RY-A845-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c8982e-804e-4764-a72a-d8707bc9ce56	51047352-2d68-4cf2-8c7d-8840010175ca	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	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								20	36					0	0	1	0	0	T	209113112	C	T	209113112	3	4	407	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-RY-A845-01A-11D-A36O-08	122714657	209113112	34086261	7	33693											
SCN10A	6336	broad.mit.edu	37	3	38812790	38812790	+	Silent	SNP	A	A	G			TCGA-RY-A845-01A-11D-A36O-08	TCGA-RY-A845-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c8982e-804e-4764-a72a-d8707bc9ce56	51047352-2d68-4cf2-8c7d-8840010175ca	g.chr3:38812790A>G	ENST00000449082.2	-	4	578	c.579T>C	c.(577-579)gaT>gaC	p.D193D		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	193					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	TGACGCTAAAATCCAGCCAGT	0.448													25	40					0	0	1	0	0	G	38812790	A	G	38812790	2	3	407	1	0	0	0	0	0	0	0	1	13966	98	4	3		3	SCN10A	3	38812790	Silent	SNP	A	TCGA-RY-A845-01A-11D-A36O-08		38812790	159209640	8	33694											
TEC	7006	broad.mit.edu	37	4	48173436	48173436	+	Missense_Mutation	SNP	A	A	G			TCGA-RY-A845-01A-11D-A36O-08	TCGA-RY-A845-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c8982e-804e-4764-a72a-d8707bc9ce56	51047352-2d68-4cf2-8c7d-8840010175ca	g.chr4:48173436A>G	ENST00000381501.3	-	4	431	c.274T>C	c.(274-276)Ttt>Ctt	p.F92L		NM_003215.2	NP_003206.2	P42680	TEC_HUMAN	tec protein tyrosine kinase	92	PH.				intracellular protein kinase cascade	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31						CTAGGTGCAAAAATGTAAAGT	0.363													23	35					0	0	1	0	0	G	48173436	A	G	48173436	3	3	407	1	0	0	0	0	1	0	0	0	15801	14	1	3	1681	3	TEC	4	48173436	Missense_Mutation	SNP	A	TCGA-RY-A845-01A-11D-A36O-08		48173436	142980840	9	33695											
UNC5C	8633	broad.mit.edu	37	4	96124101	96124101	+	Silent	SNP	G	G	A			TCGA-RY-A845-01A-11D-A36O-08	TCGA-RY-A845-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c8982e-804e-4764-a72a-d8707bc9ce56	51047352-2d68-4cf2-8c7d-8840010175ca	g.chr4:96124101G>A	ENST00000453304.1	-	12	2265	c.1917C>T	c.(1915-1917)gtC>gtT	p.V639V		NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	639					apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		TTTCCTCCCCGACCACCACCA	0.592													4	29					0	0	1	0	0	A	96124101	G	A	96124101	2	1	407	1	0	0	0	0	0	0	0	1	17053	1045	37	1		1	UNC5C	4	96124101	Silent	SNP	G	TCGA-RY-A845-01A-11D-A36O-08	47950665	96124101	95030175	10	33696											
FAM193B	54540	broad.mit.edu	37	5	176951816	176951816	+	Missense_Mutation	SNP	G	G	C			TCGA-RY-A845-01A-11D-A36O-08	TCGA-RY-A845-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c8982e-804e-4764-a72a-d8707bc9ce56	51047352-2d68-4cf2-8c7d-8840010175ca	g.chr5:176951816G>C	ENST00000329540.5	-	9	3373	c.544C>G	c.(544-546)Cca>Gca	p.P182A	FAM193B_ENST00000514747.1_Missense_Mutation_p.P556A|FAM193B_ENST00000443375.2_Missense_Mutation_p.P523A			Q6IPW0	Q6IPW0_HUMAN	family with sequence similarity 193, member B	232										kidney(1)|large_intestine(3)	4						TCTGCCCATGGTGGGGCTGGC	0.622													7	7					0	0	1	0	0	C	176951816	G	C	176951816	3	2	407	1	0	0	0	0	1	0	0	0	5557	1261	44	5	814	5	FAM193B	5	176951816	Missense_Mutation	SNP	G	TCGA-RY-A845-01A-11D-A36O-08		176951816	3963444	11	33697											
SIRT5	23408	broad.mit.edu	37	6	13584419	13584419	+	Missense_Mutation	SNP	G	G	A	rs35634029		TCGA-RY-A845-01A-11D-A36O-08	TCGA-RY-A845-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c8982e-804e-4764-a72a-d8707bc9ce56	51047352-2d68-4cf2-8c7d-8840010175ca	g.chr6:13584419G>A	ENST00000606117.1	+	3	373	c.77G>A	c.(76-78)cGa>cAa	p.R26Q	SIRT5_ENST00000359782.3_Missense_Mutation_p.R26Q|SIRT5_ENST00000397350.2_5'UTR|SIRT5_ENST00000379262.4_Missense_Mutation_p.R26Q	NM_012241.4	NP_036373.1	Q9NXA8	SIRT5_HUMAN	sirtuin 5	26					chromatin silencing|protein ADP-ribosylation|protein deacetylation	mitochondrial intermembrane space|mitochondrial matrix	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|NAD+ ADP-ribosyltransferase activity|NAD+ binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	11	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.117)	Epithelial(50;0.176)		Suramin(DB04786)	GCGTCCACACGAAACCAGATT	0.478													15	29					0	0	1	0	0	A	13584419	G	A	13584419	3	1	407	1	0	0	0	0	1	0	0	0	14396	1058	37	1	79	1	SIRT5	6	13584419	Missense_Mutation	SNP	G	TCGA-RY-A845-01A-11D-A36O-08		13584419	157530648	12	33698											
HIST1H4K	8362	broad.mit.edu	37	6	27799001	27799001	+	Missense_Mutation	SNP	C	C	T			TCGA-RY-A845-01A-11D-A36O-08	TCGA-RY-A845-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c8982e-804e-4764-a72a-d8707bc9ce56	51047352-2d68-4cf2-8c7d-8840010175ca	g.chr6:27799001C>T	ENST00000357549.2	-	1	304	c.305G>A	c.(304-306)gGt>gAt	p.G102D		NM_003541.2	NP_003532.1	P62805	H4_HUMAN	histone cluster 1, H4k	102					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding			breast(1)|endometrium(1)|lung(3)|ovary(1)|prostate(1)	7						CGCTCAACCACCGAAACCGTA	0.572													13	26					0	0	1	0	0	T	27799001	C	T	27799001	3	4	407	1	0	0	0	0	1	0	0	0	7216	507	18	2	10	2	HIST1H4K	6	27799001	Missense_Mutation	SNP	C	TCGA-RY-A845-01A-11D-A36O-08	14214582	27799001	143316066	13	33699											
OR12D2	26529	broad.mit.edu	37	6	29365261	29365261	+	Missense_Mutation	SNP	C	C	T	rs150705301	byFrequency	TCGA-RY-A845-01A-11D-A36O-08	TCGA-RY-A845-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c8982e-804e-4764-a72a-d8707bc9ce56	51047352-2d68-4cf2-8c7d-8840010175ca	g.chr6:29365261C>T	ENST00000383555.2	+	1	846	c.785C>T	c.(784-786)gCg>gTg	p.A262V	OR5V1_ENST00000377154.1_Intron	NM_013936.3	NP_039224.2	P58182	O12D2_HUMAN	olfactory receptor, family 12, subfamily D, member 2 (gene/pseudogene)	262					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	31						ATCCATCCTGCGTTAGAGAGC	0.448													10	114					0	0	1	0	0	T	29365261	C	T	29365261	3	4	407	1	0	0	0	0	1	0	0	0	10979	768	27	1	787	1	OR12D2	6	29365261	Missense_Mutation	SNP	C	TCGA-RY-A845-01A-11D-A36O-08	1566260	29365261	141749806	14	33700											
CFB	629	broad.mit.edu	37	6	31901429	31901429	+	Missense_Mutation	SNP	G	G	A			TCGA-RY-A845-01A-11D-A36O-08	TCGA-RY-A845-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c8982e-804e-4764-a72a-d8707bc9ce56	51047352-2d68-4cf2-8c7d-8840010175ca	g.chr6:31901429G>A	ENST00000556679.1	+	3	354	c.299G>A	c.(298-300)cGg>cAg	p.R100Q	C2_ENST00000418949.2_Missense_Mutation_p.R162Q|CFB_ENST00000477310.1_Intron|C2_ENST00000452323.2_Missense_Mutation_p.R39Q|C2_ENST00000469372.1_5'UTR|C2_ENST00000442278.2_Missense_Mutation_p.R30Q|C2_ENST00000299367.5_Missense_Mutation_p.R162Q|CFB_ENST00000456570.1_Missense_Mutation_p.R100Q			P00751	CFAB_HUMAN	complement factor B	176	Sushi 1.				complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						GGCGCAGTGCGGACAGGCTTC	0.632													14	12					0	0	1	0	0	A	31901429	G	A	31901429	3	1	407	1	0	0	0	0	1	0	0	0	3300	1116	39	1		1	CFB	6	31901429	Missense_Mutation	SNP	G	TCGA-RY-A845-01A-11D-A36O-08	2536168	31901429	139213638	15	33701											
TBCC	6903	broad.mit.edu	37	6	42713776	42713776	+	Missense_Mutation	SNP	C	C	A			TCGA-RY-A845-01A-11D-A36O-08	TCGA-RY-A845-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c8982e-804e-4764-a72a-d8707bc9ce56	51047352-2d68-4cf2-8c7d-8840010175ca	g.chr6:42713776C>A	ENST00000244625.2	-	2	599	c.36G>T	c.(34-36)agG>agT	p.R12S	TBCC_ENST00000372876.1_Missense_Mutation_p.R12S			Q15814	TBCC_HUMAN	tubulin folding cofactor C	12					'de novo' posttranslational protein folding|post-chaperonin tubulin folding pathway	cytoplasm|microtubule|photoreceptor connecting cilium	chaperone binding|GTPase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(3)	14	Colorectal(47;0.196)		all cancers(41;0.00122)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.125)			TGTCTCCGGTCCTGACAGCAG	0.597													14	29					2.61681e-11	2.67249e-11	1	1	0	A	42713776	C	A	42713776	3	1	407	1	0	0	0	0	1	0	0	0	15691	854	30	5	1008	5	TBCC	6	42713776	Missense_Mutation	SNP	C	TCGA-RY-A845-01A-11D-A36O-08	10812347	42713776	128401291	16	33702											
ZBTB2	57621	broad.mit.edu	37	6	151686867	151686867	+	Missense_Mutation	SNP	T	T	C			TCGA-RY-A845-01A-11D-A36O-08	TCGA-RY-A845-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c8982e-804e-4764-a72a-d8707bc9ce56	51047352-2d68-4cf2-8c7d-8840010175ca	g.chr6:151686867T>C	ENST00000325144.4	-	3	1474	c.1334A>G	c.(1333-1335)aAc>aGc	p.N445S		NM_020861.1	NP_065912.1	Q8N680	ZBTB2_HUMAN	zinc finger and BTB domain containing 2	445					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(2)|lung(6)|skin(1)	12			BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.63e-11)		GTAGGGTTTGTTTGTTTGCAC	0.443													3	57					0	0	1	0	0	C	151686867	T	C	151686867	3	2	407	1	0	0	0	0	1	0	0	0	17587	1725	60	3	214	3	ZBTB2	6	151686867	Missense_Mutation	SNP	T	TCGA-RY-A845-01A-11D-A36O-08	108973091	151686867	19428200	17	33703											
ZBTB2	57621	broad.mit.edu	37	6	151687324	151687324	+	Silent	SNP	G	G	A			TCGA-RY-A845-01A-11D-A36O-08	TCGA-RY-A845-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c8982e-804e-4764-a72a-d8707bc9ce56	51047352-2d68-4cf2-8c7d-8840010175ca	g.chr6:151687324G>A	ENST00000325144.4	-	3	1017	c.877C>T	c.(877-879)Ctg>Ttg	p.L293L		NM_020861.1	NP_065912.1	Q8N680	ZBTB2_HUMAN	zinc finger and BTB domain containing 2	293					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(2)|lung(6)|skin(1)	12			BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.63e-11)		CAGAGAGTCAGGGGGACGCGA	0.547													14	76					0	0	1	0	0	A	151687324	G	A	151687324	2	1	407	1	0	0	0	0	0	0	0	1	17587	991	35	2		2	ZBTB2	6	151687324	Silent	SNP	G	TCGA-RY-A845-01A-11D-A36O-08	457	151687324	19427743	18	33704											
HIP1	3092	broad.mit.edu	37	7	75172231	75172231	+	Missense_Mutation	SNP	G	G	T			TCGA-RY-A845-01A-11D-A36O-08	TCGA-RY-A845-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c8982e-804e-4764-a72a-d8707bc9ce56	51047352-2d68-4cf2-8c7d-8840010175ca	g.chr7:75172231G>T	ENST00000336926.6	-	28	2855	c.2829C>A	c.(2827-2829)aaC>aaA	p.N943K	HIP1_ENST00000434438.2_Missense_Mutation_p.N892K	NM_005338.5	NP_005329.3	O00291	HIP1_HUMAN	huntingtin interacting protein 1	943	I/LWEQ.				activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	clathrin coated vesicle membrane|cytoskeleton|Golgi apparatus|membrane fraction|nucleus	actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton			breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						CAGTGGCCTGGTTCACTCCCC	0.542			T	PDGFRB	CMML								5	50					0.014758	0.014758	1	1	0	T	75172231	G	T	75172231	3	4	407	1	0	0	0	0	1	0	0	0	7155	1252	44	5	300	5	HIP1	7	75172231	Missense_Mutation	SNP	G	TCGA-RY-A845-01A-11D-A36O-08		75172231	83966432	19	33705											
DAPK1	1612	broad.mit.edu	37	9	90252944	90252944	+	Missense_Mutation	SNP	T	T	A			TCGA-RY-A845-01A-11D-A36O-08	TCGA-RY-A845-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c8982e-804e-4764-a72a-d8707bc9ce56	51047352-2d68-4cf2-8c7d-8840010175ca	g.chr9:90252944T>A	ENST00000469640.2	+	4	746	c.371T>A	c.(370-372)cTt>cAt	p.L124H	DAPK1_ENST00000491893.1_Missense_Mutation_p.L124H|DAPK1_ENST00000408954.3_Missense_Mutation_p.L124H|DAPK1_ENST00000358077.5_Missense_Mutation_p.L124H|DAPK1_ENST00000472284.1_Missense_Mutation_p.L124H			P53355	DAPK1_HUMAN	death-associated protein kinase 1	124	Protein kinase.				apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade	actin cytoskeleton|cytoplasm	ATP binding|calmodulin binding|protein serine/threonine kinase activity			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						AAACAAATTCTTAATGGTGTT	0.433									Chronic Lymphocytic Leukemia, Familial Clustering of				5	57					0	0	1	0	0	A	90252944	T	A	90252944	3	1	407	1	0	0	0	0	1	0	0	0	4259	1609	56	5	381	5	DAPK1	9	90252944	Missense_Mutation	SNP	T	TCGA-RY-A845-01A-11D-A36O-08		90252944	50960487	20	33706											
CTNNA3	29119	broad.mit.edu	37	10	68535239	68535239	+	Missense_Mutation	SNP	T	T	C			TCGA-RY-A845-01A-11D-A36O-08	TCGA-RY-A845-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c8982e-804e-4764-a72a-d8707bc9ce56	51047352-2d68-4cf2-8c7d-8840010175ca	g.chr10:68535239T>C	ENST00000433211.2	-	8	1265	c.1091A>G	c.(1090-1092)gAc>gGc	p.D364G	CTNNA3_ENST00000373744.4_Missense_Mutation_p.D364G	NM_013266.2	NP_037398.2	Q9UI47	CTNA3_HUMAN	catenin (cadherin-associated protein), alpha 3						cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						ACACATGTTGTCTAAAGCAAT	0.378													52	78					0	0	1	0	0	C	68535239	T	C	68535239	3	2	407	1	0	0	0	0	1	0	0	0	4038	1667	58	3	1640	3	CTNNA3	10	68535239	Missense_Mutation	SNP	T	TCGA-RY-A845-01A-11D-A36O-08		68535239	66999508	21	33707											
PDCD11	22984	broad.mit.edu	37	10	105202012	105202012	+	Missense_Mutation	SNP	G	G	A			TCGA-RY-A845-01A-11D-A36O-08	TCGA-RY-A845-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c8982e-804e-4764-a72a-d8707bc9ce56	51047352-2d68-4cf2-8c7d-8840010175ca	g.chr10:105202012G>A	ENST00000369797.3	+	32	4844	c.4750G>A	c.(4750-4752)Gca>Aca	p.A1584T		NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	1584					mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		GAAGCAGAAGGCAGAGAAGGA	0.547													3	58					0	0	1	0	0	A	105202012	G	A	105202012	3	1	407	1	0	0	0	0	1	0	0	0	11664	1203	42	2	4872	2	PDCD11	10	105202012	Missense_Mutation	SNP	G	TCGA-RY-A845-01A-11D-A36O-08	36666773	105202012	30332735	22	33708											
ACCS	84680	broad.mit.edu	37	11	44098861	44098861	+	Missense_Mutation	SNP	G	G	A			TCGA-RY-A845-01A-11D-A36O-08	TCGA-RY-A845-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c8982e-804e-4764-a72a-d8707bc9ce56	51047352-2d68-4cf2-8c7d-8840010175ca	g.chr11:44098861G>A	ENST00000263776.8	+	7	1023	c.589G>A	c.(589-591)Gct>Act	p.A197T	ACCS_ENST00000432284.2_3'UTR|ACCS_ENST00000533208.1_Intron	NM_001127219.1|NM_032592.3	NP_001120691.1|NP_115981.1	Q96QU6	1A1L1_HUMAN	1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)	197							1-aminocyclopropane-1-carboxylate synthase activity|protein homodimerization activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups	p.A197T(1)		breast(4)|endometrium(3)|large_intestine(11)|lung(15)|ovary(1)|skin(1)	35						TTACTATGGCGCTATCACACA	0.582													17	114					0	0	1	0	0	A	44098861	G	A	44098861	3	1	407	1	0	0	0	0	1	0	0	0	133	1087	38	1	611	1	ACCS	11	44098861	Missense_Mutation	SNP	G	TCGA-RY-A845-01A-11D-A36O-08		44098861	90907655	23	33709											
PIH1D2	120379	broad.mit.edu	37	11	111934916	111934916	+	Frame_Shift_Del	DEL	T	T	-			TCGA-RY-A845-01A-11D-A36O-08	TCGA-RY-A845-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c8982e-804e-4764-a72a-d8707bc9ce56	51047352-2d68-4cf2-8c7d-8840010175ca	g.chr11:111934916delT	ENST00000431456.1	-	6	1065	c.843delA	c.(841-843)aaafs	p.K281fs	DLAT_ENST00000280346.6_3'UTR|DLAT_ENST00000393051.1_3'UTR|PIH1D2_ENST00000528775.1_Frame_Shift_Del_p.K281fs	NM_001082619.1	NP_001076088.1	Q8WWB5	PIHD2_HUMAN	PIH1 domain containing 2	0										endometrium(2)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	11		all_cancers(61;1.09e-14)|all_epithelial(67;7.64e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;3.19e-07)|BRCA - Breast invasive adenocarcinoma(274;6.17e-07)|all cancers(92;6.18e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0508)		ATAATTCATCTTTCGCTAATG	0.313													2	4	---	---	---	---						-	111934916	T	-	111934916	7	5	407	1	0	1	0	1	0	0	0	0	11955	1606	56	0	27	0	PIH1D2	11	111934916	Frame_Shift_Del	DEL	T	TCGA-RY-A845-01A-11D-A36O-08	67836055	111934916	23071600	24	33710											
IAPP	3375	broad.mit.edu	37	12	21531254	21531254	+	Missense_Mutation	SNP	A	A	G			TCGA-RY-A845-01A-11D-A36O-08	TCGA-RY-A845-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c8982e-804e-4764-a72a-d8707bc9ce56	51047352-2d68-4cf2-8c7d-8840010175ca	g.chr12:21531254A>G	ENST00000240652.3	+	3	300	c.164A>G	c.(163-165)aAc>aGc	p.N55S	IAPP_ENST00000539393.1_Missense_Mutation_p.N55S|SLCO1A2_ENST00000307378.6_Intron|IAPP_ENST00000542023.1_3'UTR|SLCO1A2_ENST00000537524.1_Intron|SLCO1A2_ENST00000473830.1_Intron	NM_000415.2	NP_000406.1	P10997	IAPP_HUMAN	islet amyloid polypeptide	55					apoptosis|cell-cell signaling|endocrine pancreas development|signal transduction	extracellular region|soluble fraction	hormone activity			lung(3)	3					Perindopril(DB00790)	TCCAGCAACAACTTTGGTGCC	0.453													28	54					0	0	1	0	0	G	21531254	A	G	21531254	3	3	407	1	0	0	0	0	1	0	0	0	7516	43	2	3	170	3	IAPP	12	21531254	Missense_Mutation	SNP	A	TCGA-RY-A845-01A-11D-A36O-08		21531254	112320641	25	33711											
CTSG	1511	broad.mit.edu	37	14	25043625	25043625	+	Silent	SNP	C	C	T			TCGA-RY-A845-01A-11D-A36O-08	TCGA-RY-A845-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c8982e-804e-4764-a72a-d8707bc9ce56	51047352-2d68-4cf2-8c7d-8840010175ca	g.chr14:25043625C>T	ENST00000216336.2	-	4	456	c.420G>A	c.(418-420)acG>acA	p.T140T		NM_001911.2	NP_001902.1	P08311	CATG_HUMAN	cathepsin G	140	Peptidase S1.				immune response|proteolysis	cell surface|extracellular space|plasma membrane|stored secretory granule	heparin binding|serine-type endopeptidase activity	p.T140T(1)		autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(265;0.0269)		CAGTGCACAGCGTCCCGGGTC	0.612													3	54					0	0	1	0	0	T	25043625	C	T	25043625	2	4	407	1	0	0	0	0	0	0	0	1	4059	755	27	1		1	CTSG	14	25043625	Silent	SNP	C	TCGA-RY-A845-01A-11D-A36O-08		25043625	82305915	26	33712											
SCNN1G	6340	broad.mit.edu	37	16	23197720	23197720	+	Missense_Mutation	SNP	G	G	A			TCGA-RY-A845-01A-11D-A36O-08	TCGA-RY-A845-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c8982e-804e-4764-a72a-d8707bc9ce56	51047352-2d68-4cf2-8c7d-8840010175ca	g.chr16:23197720G>A	ENST00000300061.2	+	2	271	c.128G>A	c.(127-129)cGc>cAc	p.R43H		NM_001039.3	NP_001030.2	P51170	SCNNG_HUMAN	sodium channel, non-voltage-gated 1, gamma subunit	43					excretion|sensory perception of taste	apical plasma membrane|integral to plasma membrane	ligand-gated sodium channel activity|WW domain binding			NS(2)|autonomic_ganglia(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	34				GBM - Glioblastoma multiforme(48;0.0366)	Amiloride(DB00594)|Triamterene(DB00384)	GGCTGTCGCCGCATCGTGGTG	0.627													3	36					0	0	1	0	0	A	23197720	G	A	23197720	3	1	407	1	0	0	0	0	1	0	0	0	13984	1087	38	1	130	1	SCNN1G	16	23197720	Missense_Mutation	SNP	G	TCGA-RY-A845-01A-11D-A36O-08		23197720	67157033	27	33713											
HSD17B2	3294	broad.mit.edu	37	16	82104725	82104725	+	Silent	SNP	C	C	T			TCGA-RY-A845-01A-11D-A36O-08	TCGA-RY-A845-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c8982e-804e-4764-a72a-d8707bc9ce56	51047352-2d68-4cf2-8c7d-8840010175ca	g.chr16:82104725C>T	ENST00000199936.4	+	3	850	c.657C>T	c.(655-657)agC>agT	p.S219S	RP11-510J16.5_ENST00000567021.1_RNA	NM_002153.2	NP_002144.1	P37059	DHB2_HUMAN	hydroxysteroid (17-beta) dehydrogenase 2	219					response to retinoic acid|steroid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	17-alpha,20-alpha-dihydroxypregn-4-en-3-one dehydrogenase activity|binding|estradiol 17-beta-dehydrogenase activity|testosterone 17-beta-dehydrogenase (NAD+) activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	10					NADH(DB00157)	ATGTCAGCAGCATGGGAGGTG	0.488													5	48					0	0	1	0	0	T	82104725	C	T	82104725	2	4	407	1	0	0	0	0	0	0	0	1	7425	709	25	2		2	HSD17B2	16	82104725	Silent	SNP	C	TCGA-RY-A845-01A-11D-A36O-08	58907005	82104725	8250028	28	33714											
NEURL4	84461	broad.mit.edu	37	17	7226076	7226076	+	Silent	SNP	C	C	T	rs35849202		TCGA-RY-A845-01A-11D-A36O-08	TCGA-RY-A845-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c8982e-804e-4764-a72a-d8707bc9ce56	51047352-2d68-4cf2-8c7d-8840010175ca	g.chr17:7226076C>T	ENST00000399464.2	-	16	2718	c.2703G>A	c.(2701-2703)aaG>aaA	p.K901K	NEURL4_ENST00000315614.7_Silent_p.K899K|NEURL4_ENST00000570460.1_Silent_p.K877K	NM_032442.2	NP_115818.2			neuralized E3 ubiquitin protein ligase 4											central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GTGGGAAGGACTTCTCGGTGG	0.622													9	72					0	0	1	0	0	T	7226076	C	T	7226076	2	4	407	1	0	0	0	0	0	0	0	1	10394	564	20	2		2	NEURL4	17	7226076	Silent	SNP	C	TCGA-RY-A845-01A-11D-A36O-08		7226076	73969134	29	33715											
TP53	7157	broad.mit.edu	37	17	7578496	7578496	+	Missense_Mutation	SNP	A	A	G			TCGA-RY-A845-01A-11D-A36O-08	TCGA-RY-A845-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c8982e-804e-4764-a72a-d8707bc9ce56	51047352-2d68-4cf2-8c7d-8840010175ca	g.chr17:7578496A>G	ENST00000420246.2	-	5	566	c.434T>C	c.(433-435)cTg>cCg	p.L145P	TP53_ENST00000269305.4_Missense_Mutation_p.L145P|TP53_ENST00000359597.4_Missense_Mutation_p.L145P|TP53_ENST00000413465.2_Missense_Mutation_p.L145P|TP53_ENST00000455263.2_Missense_Mutation_p.L145P|TP53_ENST00000445888.2_Missense_Mutation_p.L145P	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	145	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		L -> M (in sporadic cancers; somatic mutation).|L -> P (in sporadic cancers; somatic mutation).|L -> Q (in sporadic cancers; somatic mutation).|L -> R (in sporadic cancers; somatic mutation).|L -> V (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.L145Q(17)|p.L145P(17)|p.0?(8)|p.L145R(7)|p.Q144_G154del11(1)|p.L137_W146del10(1)|p.Q144fs*32(1)|p.Q144fs*16(1)|p.W146fs*25(1)|p.W146fs*22(1)|p.L145del(1)|p.V143_S149del(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)		ATCAACCCACAGCTGCACAGG	0.602		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)			33	4					0	0	1	0	0	G	7578496	A	G	7578496	3	3	407	1	0	0	0	0	1	0	0	0	16442	188	7	3	864	3	TP53	17	7578496	Missense_Mutation	SNP	A	TCGA-RY-A845-01A-11D-A36O-08	352420	7578496	73616714	30	33716											
FLCN	201163	broad.mit.edu	37	17	17119748	17119748	+	Missense_Mutation	SNP	T	T	C			TCGA-RY-A845-01A-11D-A36O-08	TCGA-RY-A845-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c8982e-804e-4764-a72a-d8707bc9ce56	51047352-2d68-4cf2-8c7d-8840010175ca	g.chr17:17119748T>C	ENST00000285071.4	-	11	1700	c.1246A>G	c.(1246-1248)Aac>Gac	p.N416D	RP11-45M22.4_ENST00000427497.3_3'UTR	NM_144997.5	NP_659434.2	Q8NFG4	FLCN_HUMAN	folliculin	416					regulation of protein phosphorylation	cytoplasm|nucleus|plasma membrane	protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|stomach(1)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						CCCAGGAAGTTGCACCGATAG	0.662									Familial Non-VHL Clear Cell Renal Cancer;Birt-Hogg-Dub syndrome				3	11					0	0	1	0	0	C	17119748	T	C	17119748	3	2	407	1	0	0	0	0	1	0	0	0	5954	1812	63	3	509	3	FLCN	17	17119748	Missense_Mutation	SNP	T	TCGA-RY-A845-01A-11D-A36O-08	9541252	17119748	64075462	31	33717											
CDH19	28513	broad.mit.edu	37	18	64197119	64197119	+	Missense_Mutation	SNP	T	T	C			TCGA-RY-A845-01A-11D-A36O-08	TCGA-RY-A845-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c8982e-804e-4764-a72a-d8707bc9ce56	51047352-2d68-4cf2-8c7d-8840010175ca	g.chr18:64197119T>C	ENST00000262150.2	-	9	1713	c.1421A>G	c.(1420-1422)tAt>tGt	p.Y474C	CDH19_ENST00000540086.1_Missense_Mutation_p.Y474C	NM_021153.3	NP_066976.1	Q9H159	CAD19_HUMAN	cadherin 19, type 2	474	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61		Esophageal squamous(42;0.0132)				ATAAGTCTCATAGTATTGAGA	0.323													3	72					0	0	1	0	0	C	64197119	T	C	64197119	3	2	407	1	0	0	0	0	1	0	0	0	3126	1406	49	3	913	3	CDH19	18	64197119	Missense_Mutation	SNP	T	TCGA-RY-A845-01A-11D-A36O-08		64197119	13880129	32	33718											
MUC16	94025	broad.mit.edu	37	19	9049830	9049830	+	Missense_Mutation	SNP	T	T	A			TCGA-RY-A845-01A-11D-A36O-08	TCGA-RY-A845-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c8982e-804e-4764-a72a-d8707bc9ce56	51047352-2d68-4cf2-8c7d-8840010175ca	g.chr19:9049830T>A	ENST00000397910.4	-	5	32004	c.31801A>T	c.(31801-31803)Atc>Ttc	p.I10601F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10603	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GCAGGATGGATAACCCATGAA	0.483													28	48					0	0	1	0	0	A	9049830	T	A	9049830	3	1	407	1	0	0	0	0	1	0	0	0	10021	1406	49	4	12042	4	MUC16	19	9049830	Missense_Mutation	SNP	T	TCGA-RY-A845-01A-11D-A36O-08		9049830	50079153	33	33719											
ZNF433	163059	broad.mit.edu	37	19	12126626	12126626	+	Silent	SNP	G	G	A			TCGA-RY-A845-01A-11D-A36O-08	TCGA-RY-A845-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c8982e-804e-4764-a72a-d8707bc9ce56	51047352-2d68-4cf2-8c7d-8840010175ca	g.chr19:12126626G>A	ENST00000419886.2	-	5	1242	c.951C>T	c.(949-951)agC>agT	p.S317S	ZNF433_ENST00000344980.6_Silent_p.S352S|CTD-2006C1.2_ENST00000476474.1_RNA|CTD-2006C1.2_ENST00000406892.2_RNA|CTD-2006C1.2_ENST00000495324.1_RNA			Q8N7K0	ZN433_HUMAN	zinc finger protein 433	352					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(1)|prostate(1)|skin(1)	14						GGTTTTGAAAGCTGGTAAGAT	0.383													3	51					0	0	1	0	0	A	12126626	G	A	12126626	2	1	407	1	0	0	0	0	0	0	0	1	17964	962	34	2		2	ZNF433	19	12126626	Silent	SNP	G	TCGA-RY-A845-01A-11D-A36O-08	3076796	12126626	47002357	34	33720											
SIGLEC5	8778	broad.mit.edu	37	19	52130494	52130494	+	Silent	SNP	C	C	T			TCGA-RY-A845-01A-11D-A36O-08	TCGA-RY-A845-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c8982e-804e-4764-a72a-d8707bc9ce56	51047352-2d68-4cf2-8c7d-8840010175ca	g.chr19:52130494C>T	ENST00000222107.4	-	7	1428	c.1290G>A	c.(1288-1290)tcG>tcA	p.S430S	SIGLEC5_ENST00000570106.2_Silent_p.S430S|SIGLEC5_ENST00000534261.2_Silent_p.S430S|SIGLEC5_ENST00000429354.3_Silent_p.S430S|SIGLEC5_ENST00000599649.1_Silent_p.S430S			O15389	SIGL5_HUMAN	sialic acid binding Ig-like lectin 5	430					cell adhesion	integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(9)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		all_neural(266;0.0726)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218)		TCCCGAGGTTCGATCTCCCTG	0.557													3	24					0	0	1	0	0	T	52130494	C	T	52130494	2	4	407	1	0	0	0	0	0	0	0	1	14366	871	31	1		1	SIGLEC5	19	52130494	Silent	SNP	C	TCGA-RY-A845-01A-11D-A36O-08	40003868	52130494	6998489	35	33721											
PIGA	5277	broad.mit.edu	37	X	15342872	15342872	+	Nonsense_Mutation	SNP	G	G	C			TCGA-RY-A845-01A-11D-A36O-08	TCGA-RY-A845-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c8982e-804e-4764-a72a-d8707bc9ce56	51047352-2d68-4cf2-8c7d-8840010175ca	g.chrX:15342872G>C	ENST00000333590.4	-	5	1187	c.1103C>G	c.(1102-1104)tCa>tGa	p.S368*	PIGA_ENST00000428964.1_Nonsense_Mutation_p.S53*|PIGA_ENST00000542278.1_Nonsense_Mutation_p.S134*|PIGA_ENST00000482148.1_5'UTR	NM_002641.3	NP_002632.1	P37287	PIGA_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class A	368					C-terminal protein lipidation|positive regulation of metabolic process|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity|protein binding			endometrium(2)|kidney(2)|large_intestine(2)|ovary(1)|prostate(2)|urinary_tract(1)	10	Hepatocellular(33;0.183)					CAATGTCCCTGACTTCAGTTG	0.398													15	131					0	0	1	0	0	C	15342872	G	C	15342872	4	2	407	1	0	0	0	0	0	1	0	0	11932	1294	45	5	359	5	PIGA	23	15342872	Nonsense_Mutation	SNP	G	TCGA-RY-A845-01A-11D-A36O-08		15342872	139927688	36	33722											
FAM47C	442444	broad.mit.edu	37	X	37029164	37029164	+	Missense_Mutation	SNP	C	C	T			TCGA-RY-A845-01A-11D-A36O-08	TCGA-RY-A845-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c8982e-804e-4764-a72a-d8707bc9ce56	51047352-2d68-4cf2-8c7d-8840010175ca	g.chrX:37029164C>T	ENST00000358047.3	+	1	2733	c.2681C>T	c.(2680-2682)tCc>tTc	p.S894F		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	894										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						AACGAGTGTTCCTCAGGGCTG	0.438													4	115					0	0	1	0	0	T	37029164	C	T	37029164	3	4	407	1	0	0	0	0	1	0	0	0	5607	855	30	2	2683	2	FAM47C	23	37029164	Missense_Mutation	SNP	C	TCGA-RY-A845-01A-11D-A36O-08	21686292	37029164	118241396	37	33723											
GPR173	54328	broad.mit.edu	37	X	53105924	53105924	+	Missense_Mutation	SNP	G	G	A			TCGA-RY-A845-01A-11D-A36O-08	TCGA-RY-A845-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c8982e-804e-4764-a72a-d8707bc9ce56	51047352-2d68-4cf2-8c7d-8840010175ca	g.chrX:53105924G>A	ENST00000332582.4	+	2	612	c.121G>A	c.(121-123)Gcc>Acc	p.A41T		NM_018969.5	NP_061842.1	Q9NS66	GP173_HUMAN	G protein-coupled receptor 173	41						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)	16						GGCGGGTAACGCCATCTTGTC	0.612													3	46					0	0	1	0	0	A	53105924	G	A	53105924	3	1	407	1	0	0	0	0	1	0	0	0	6711	1087	38	1	123	1	GPR173	23	53105924	Missense_Mutation	SNP	G	TCGA-RY-A845-01A-11D-A36O-08	16076760	53105924	102164636	38	33724											
GDPD2	54857	broad.mit.edu	37	X	69645908	69645908	+	Missense_Mutation	SNP	G	G	A			TCGA-RY-A845-01A-11D-A36O-08	TCGA-RY-A845-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c8982e-804e-4764-a72a-d8707bc9ce56	51047352-2d68-4cf2-8c7d-8840010175ca	g.chrX:69645908G>A	ENST00000453994.2	+	5	671	c.310G>A	c.(310-312)Gcc>Acc	p.A104T	GDPD2_ENST00000472623.1_3'UTR|GDPD2_ENST00000538649.1_Missense_Mutation_p.A25T|GDPD2_ENST00000536730.1_Missense_Mutation_p.A25T|GDPD2_ENST00000374382.3_Missense_Mutation_p.A104T	NM_001171192.1	NP_001164663.1	Q9HCC8	GDPD2_HUMAN	glycerophosphodiester phosphodiesterase domain containing 2	104					glycerol metabolic process|lipid metabolic process	cytoplasm|cytoskeleton|integral to membrane|plasma membrane	glycerophosphodiester phosphodiesterase activity|glycerophosphoinositol inositolphosphodiesterase activity|metal ion binding			NS(1)|breast(1)|cervix(1)|endometrium(6)|large_intestine(8)|lung(3)|ovary(2)	22	Renal(35;0.156)					CTAGGTCCTGGCCCTGCTCCT	0.607													20	20					0	0	1	0	0	A	69645908	G	A	69645908	3	1	407	1	0	0	0	0	1	0	0	0	6366	1203	42	2	324	2	GDPD2	23	69645908	Missense_Mutation	SNP	G	TCGA-RY-A845-01A-11D-A36O-08	16539984	69645908	85624652	39	33725											
PASD1	139135	broad.mit.edu	37	X	150842518	150842518	+	Missense_Mutation	SNP	A	A	G			TCGA-RY-A845-01A-11D-A36O-08	TCGA-RY-A845-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c8982e-804e-4764-a72a-d8707bc9ce56	51047352-2d68-4cf2-8c7d-8840010175ca	g.chrX:150842518A>G	ENST00000370357.4	+	15	2280	c.2035A>G	c.(2035-2037)Acc>Gcc	p.T679A		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	679						nucleus	signal transducer activity			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					TTCAGACTCAACCATAAGCAC	0.498													35	47					0	0	1	0	0	G	150842518	A	G	150842518	3	3	407	1	0	0	0	0	1	0	0	0	11518	43	2	3	2089	3	PASD1	23	150842518	Missense_Mutation	SNP	A	TCGA-RY-A845-01A-11D-A36O-08	81196610	150842518	4428042	40	33726											
FUBP1	8880	broad.mit.edu	37	1	78429977	78429978	+	Frame_Shift_Ins	INS	-	-	T			TCGA-RY-A847-01A-11D-A36O-08	TCGA-RY-A847-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9917b575-97ed-48ed-bc5d-8ddf1246fa21	dacc4361-84fe-4fd7-8c3b-0709ce0b7400	g.chr1:78429977_78429978insT	ENST00000370767.1	-	11	988_989	c.901_902insA	c.(901-903)atafs	p.I301fs	FUBP1_ENST00000370768.2_Frame_Shift_Ins_p.I301fs|FUBP1_ENST00000436586.2_Frame_Shift_Ins_p.I322fs			Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1	301	KH 3.				transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding	p.I301fs*22(1)		central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						ATCATTTTGTATTTTTTTGATC	0.347			"F, N"		oligodendroglioma								7	27	---	---	---	---						T	78429978	-	T	78429977	7	5	408	1	0	1	1	0	0	0	0	0	6127	449	16	0	1072	0	FUBP1	1	78429977	Frame_Shift_Ins	INS	-	TCGA-RY-A847-01A-11D-A36O-08		78429977	170820644	1	33727											
OR2T12	127064	broad.mit.edu	37	1	248458774	248458774	+	Missense_Mutation	SNP	G	G	A			TCGA-RY-A847-01A-11D-A36O-08	TCGA-RY-A847-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9917b575-97ed-48ed-bc5d-8ddf1246fa21	dacc4361-84fe-4fd7-8c3b-0709ce0b7400	g.chr1:248458774G>A	ENST00000317996.1	-	1	106	c.107C>T	c.(106-108)tCc>tTc	p.S36F		NM_001004692.1	NP_001004692.1	Q8NG77	O2T12_HUMAN	olfactory receptor, family 2, subfamily T, member 12	36					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0201)			GCTAAACAGGGAGGTCAAAAC	0.502													41	68					0	0	1	0	0	A	248458774	G	A	248458774	3	1	408	1	0	0	0	0	1	0	0	0	11067	1174	41	2	858	2	OR2T12	1	248458774	Missense_Mutation	SNP	G	TCGA-RY-A847-01A-11D-A36O-08	170028797	248458774	791847	2	33728											
GPAT2	150763	broad.mit.edu	37	2	96690336	96690336	+	Missense_Mutation	SNP	C	C	T			TCGA-RY-A847-01A-11D-A36O-08	TCGA-RY-A847-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9917b575-97ed-48ed-bc5d-8ddf1246fa21	dacc4361-84fe-4fd7-8c3b-0709ce0b7400	g.chr2:96690336C>T	ENST00000434632.1	-	16	1967	c.1508G>A	c.(1507-1509)aGc>aAc	p.S503N	GPAT2_ENST00000359548.4_Missense_Mutation_p.S503N|GPAT2_ENST00000453542.1_Missense_Mutation_p.S432N|GPAT2_ENST00000377137.3_Missense_Mutation_p.S503N			Q6NUI2	GPAT2_HUMAN	glycerol-3-phosphate acyltransferase 2, mitochondrial	503					glycerol-3-phosphate metabolic process|phospholipid biosynthetic process|triglyceride biosynthetic process	integral to membrane|mitochondrial outer membrane	glycerol-3-phosphate O-acyltransferase activity			NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(1)|lung(5)|skin(3)	16						CTGCAGCAGGCTCCGCAGCTG	0.657													15	35					0	0	1	0	0	T	96690336	C	T	96690336	3	4	408	1	0	0	0	0	1	0	0	0	6629	797	28	2	911	2	GPAT2	2	96690336	Missense_Mutation	SNP	C	TCGA-RY-A847-01A-11D-A36O-08		96690336	146509037	3	33729											
RAB3GAP1	22930	broad.mit.edu	37	2	135926349	135926349	+	Nonstop_Mutation	SNP	T	T	G			TCGA-RY-A847-01A-11D-A36O-08	TCGA-RY-A847-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9917b575-97ed-48ed-bc5d-8ddf1246fa21	dacc4361-84fe-4fd7-8c3b-0709ce0b7400	g.chr2:135926349T>G	ENST00000264158.8	+	24	2987	c.2944T>G	c.(2944-2946)Tga>Gga	p.*982G	RAB3GAP1_ENST00000487003.1_Intron|RAB3GAP1_ENST00000442034.1_Nonstop_Mutation_p.*989G|ZRANB3_ENST00000412849.1_Intron|RAB3GAP1_ENST00000539493.1_Intron	NM_012233.2	NP_036365.1	Q15042	RB3GP_HUMAN	RAB3 GTPase activating protein subunit 1 (catalytic)	0						centrosome|nucleus|soluble fraction	Rab GTPase activator activity|Rab GTPase binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32				BRCA - Breast invasive adenocarcinoma(221;0.117)		TTCCTTCTTCTGATTCTTCTA	0.527													4	42					0	0	1	0	0	G	135926349	T	G	135926349	4	3	408	1	0	0	0	0	0	0	0	0	12987	1593	55	5	3063	5	RAB3GAP1	2	135926349	Nonstop_Mutation	SNP	T	TCGA-RY-A847-01A-11D-A36O-08	39236013	135926349	107273024	4	33730											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-RY-A847-01A-11D-A36O-08	TCGA-RY-A847-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9917b575-97ed-48ed-bc5d-8ddf1246fa21	dacc4361-84fe-4fd7-8c3b-0709ce0b7400	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	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								36	51					0	0	1	0	0	T	209113112	C	T	209113112	3	4	408	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-RY-A847-01A-11D-A36O-08	73186763	209113112	34086261	5	33731											
PTPRN	5798	broad.mit.edu	37	2	220168541	220168541	+	Missense_Mutation	SNP	T	T	C			TCGA-RY-A847-01A-11D-A36O-08	TCGA-RY-A847-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9917b575-97ed-48ed-bc5d-8ddf1246fa21	dacc4361-84fe-4fd7-8c3b-0709ce0b7400	g.chr2:220168541T>C	ENST00000295718.2	-	4	533	c.293A>G	c.(292-294)cAc>cGc	p.H98R	PTPRN_ENST00000423636.2_Missense_Mutation_p.H8R|PTPRN_ENST00000409251.3_Missense_Mutation_p.H98R|AC114803.3_ENST00000417355.1_RNA	NM_002846.3	NP_002837.1	Q16849	PTPRN_HUMAN	protein tyrosine phosphatase, receptor type, N	98					response to reactive oxygen species	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)		GAGGTCATCGTGCCAGGACAA	0.587													4	19					0	0	1	0	0	C	220168541	T	C	220168541	3	2	408	1	0	0	0	0	1	0	0	0	12859	1696	59	3	2726	3	PTPRN	2	220168541	Missense_Mutation	SNP	T	TCGA-RY-A847-01A-11D-A36O-08	11055429	220168541	23030832	6	33732											
ZBTB20	26137	broad.mit.edu	37	3	114058171	114058171	+	Missense_Mutation	SNP	C	C	T			TCGA-RY-A847-01A-11D-A36O-08	TCGA-RY-A847-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9917b575-97ed-48ed-bc5d-8ddf1246fa21	dacc4361-84fe-4fd7-8c3b-0709ce0b7400	g.chr3:114058171C>T	ENST00000462705.1	-	12	2509	c.1688G>A	c.(1687-1689)tGt>tAt	p.C563Y	ZBTB20_ENST00000481632.1_Missense_Mutation_p.C563Y|ZBTB20_ENST00000393785.2_Missense_Mutation_p.C563Y|ZBTB20_ENST00000471418.1_Missense_Mutation_p.C563Y|ZBTB20_ENST00000474710.1_Missense_Mutation_p.C636Y|ZBTB20_ENST00000464560.1_Missense_Mutation_p.C563Y|ZBTB20_ENST00000357258.3_Missense_Mutation_p.C563Y	NM_001164343.1	NP_001157815.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	636					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		GCAGATACTACACTGGTATGC	0.527													9	95					0	0	1	0	0	T	114058171	C	T	114058171	3	4	408	1	0	0	0	0	1	0	0	0	17588	478	17	2	322	2	ZBTB20	3	114058171	Missense_Mutation	SNP	C	TCGA-RY-A847-01A-11D-A36O-08		114058171	83964259	7	33733											
ZNF148	7707	broad.mit.edu	37	3	124952039	124952039	+	Frame_Shift_Del	DEL	C	C	-			TCGA-RY-A847-01A-11D-A36O-08	TCGA-RY-A847-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9917b575-97ed-48ed-bc5d-8ddf1246fa21	dacc4361-84fe-4fd7-8c3b-0709ce0b7400	g.chr3:124952039delC	ENST00000360647.4	-	9	2016	c.1531delG	c.(1531-1533)gaafs	p.E511fs	ZNF148_ENST00000484491.1_Frame_Shift_Del_p.E511fs|ZNF148_ENST00000492394.1_Frame_Shift_Del_p.E511fs|ZNF148_ENST00000544464.1_Intron|ZNF148_ENST00000497929.1_5'UTR|ZNF148_ENST00000468369.1_Intron|SLC12A8_ENST00000423114.2_Intron|ZNF148_ENST00000485866.1_Frame_Shift_Del_p.E511fs	NM_021964.2	NP_068799.2	Q9UQR1	ZN148_HUMAN	zinc finger protein 148	511					cellular defense response|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|zinc ion binding			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)	28						GTGGTACTTTCATCAATGACA	0.438													10	101	---	---	---	---						-	124952039	C	-	124952039	7	5	408	1	0	1	0	1	0	0	0	0	17792	835	29	0	857	0	ZNF148	3	124952039	Frame_Shift_Del	DEL	C	TCGA-RY-A847-01A-11D-A36O-08	10893868	124952039	73070391	8	33734											
FRG1	2483	broad.mit.edu	37	4	190878555	190878556	+	Frame_Shift_Ins	INS	-	-	A			TCGA-RY-A847-01A-11D-A36O-08	TCGA-RY-A847-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9917b575-97ed-48ed-bc5d-8ddf1246fa21	dacc4361-84fe-4fd7-8c3b-0709ce0b7400	g.chr4:190878555_190878556insA	ENST00000226798.4	+	6	657_658	c.435_436insA	c.(436-438)aaafs	p.K146fs	FRG1_ENST00000514482.1_3'UTR	NM_004477.2	NP_004468.1	Q14331	FRG1_HUMAN	FSHD region gene 1	146					rRNA processing	Cajal body|catalytic step 2 spliceosome|nuclear speck|nucleolus				NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1)	32		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)		TCACTTAGGGGAAAATGGCTTT	0.351													7	20	---	---	---	---						A	190878556	-	A	190878555	7	5	408	1	0	1	1	0	0	0	0	0	6081	1161	41	0	457	0	FRG1	4	190878555	Frame_Shift_Ins	INS	-	TCGA-RY-A847-01A-11D-A36O-08		190878555	275721	9	33735											
GPR98	84059	broad.mit.edu	37	5	90079059	90079059	+	Silent	SNP	C	C	T			TCGA-RY-A847-01A-11D-A36O-08	TCGA-RY-A847-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9917b575-97ed-48ed-bc5d-8ddf1246fa21	dacc4361-84fe-4fd7-8c3b-0709ce0b7400	g.chr5:90079059C>T	ENST00000405460.2	+	66	13446	c.13350C>T	c.(13348-13350)taC>taT	p.Y4450Y	GPR98_ENST00000425867.2_Silent_p.Y111Y	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	4450	Calx-beta 30.				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GTGTTGATTACATTTTGCATG	0.413													13	77					0	0	1	0	0	T	90079059	C	T	90079059	2	4	408	1	0	0	0	0	0	0	0	1	6762	489	17	2		2	GPR98	5	90079059	Silent	SNP	C	TCGA-RY-A847-01A-11D-A36O-08		90079059	90836201	10	33736											
FKBPL	63943	broad.mit.edu	37	6	32097117	32097117	+	Silent	SNP	G	G	A			TCGA-RY-A847-01A-11D-A36O-08	TCGA-RY-A847-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9917b575-97ed-48ed-bc5d-8ddf1246fa21	dacc4361-84fe-4fd7-8c3b-0709ce0b7400	g.chr6:32097117G>A	ENST00000375156.3	-	2	711	c.441C>T	c.(439-441)ggC>ggT	p.G147G		NM_022110.3	NP_071393.2	Q9UIM3	FKBPL_HUMAN	FK506 binding protein like	147					response to radiation	membrane|nucleus	FK506 binding|peptidyl-prolyl cis-trans isomerase activity										ATGGCCCTACGCCCATAGTTA	0.577													109	147					0	0	1	0	0	A	32097117	G	A	32097117	2	1	408	1	0	0	0	0	0	0	0	1	5949	1074	38	1		1	FKBPL	6	32097117	Silent	SNP	G	TCGA-RY-A847-01A-11D-A36O-08		32097117	139017950	11	33737											
RELN	5649	broad.mit.edu	37	7	103202290	103202290	+	Missense_Mutation	SNP	C	C	T			TCGA-RY-A847-01A-11D-A36O-08	TCGA-RY-A847-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9917b575-97ed-48ed-bc5d-8ddf1246fa21	dacc4361-84fe-4fd7-8c3b-0709ce0b7400	g.chr7:103202290C>T	ENST00000424685.2	-	35	5480	c.5321G>A	c.(5320-5322)gGa>gAa	p.G1774E	RELN_ENST00000343529.5_Missense_Mutation_p.G1774E|RELN_ENST00000428762.1_Missense_Mutation_p.G1774E			P78509	RELN_HUMAN	reelin	1774	EGF-like 4.				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		AATCCCTCGTCCTGAGCACAT	0.468													5	44					0	0	1	0	0	T	103202290	C	T	103202290	3	4	408	1	0	0	0	0	1	0	0	0	13272	855	30	2	5185	2	RELN	7	103202290	Missense_Mutation	SNP	C	TCGA-RY-A847-01A-11D-A36O-08		103202290	55936373	12	33738											
DUS4L	11062	broad.mit.edu	37	7	107214150	107214150	+	Splice_Site	SNP	T	T	C			TCGA-RY-A847-01A-11D-A36O-08	TCGA-RY-A847-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9917b575-97ed-48ed-bc5d-8ddf1246fa21	dacc4361-84fe-4fd7-8c3b-0709ce0b7400	g.chr7:107214150T>C	ENST00000265720.3	+	5	602	c.240T>C	c.(238-240)ggT>ggC	p.G80G	DUS4L_ENST00000402620.1_Intron	NM_001270419.1|NM_181581.2	NP_001257348.1|NP_853559.1	O95620	DUS4L_HUMAN	dihydrouridine synthase 4-like (S. cerevisiae)	80					tRNA processing		flavin adenine dinucleotide binding|tRNA dihydrouridine synthase activity			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)|stomach(1)	8						TTTTGTCAGGTGATTGCCCAT	0.368													7	225					0	0	1	0	0	C	107214150	T	C	107214150	5	2	408	1	0	0	0	0	0	0	1	0	4834	1710	59	3	250	3	DUS4L	7	107214150	Splice_Site	SNP	T	TCGA-RY-A847-01A-11D-A36O-08	4011860	107214150	51924513	13	33739											
OR4A47	403253	broad.mit.edu	37	11	48510452	48510452	+	Silent	SNP	C	C	A			TCGA-RY-A847-01A-11D-A36O-08	TCGA-RY-A847-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9917b575-97ed-48ed-bc5d-8ddf1246fa21	dacc4361-84fe-4fd7-8c3b-0709ce0b7400	g.chr11:48510452C>A	ENST00000446524.1	+	1	184	c.108C>A	c.(106-108)acC>acA	p.T36T		NM_001005512.2	NP_001005512.2	Q6IF82	O4A47_HUMAN	olfactory receptor, family 4, subfamily A, member 47	36					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2)	29						ACATTTTGACCATGGTGGGCA	0.423													8	52					0.00307968	0.00307968	1	1	0	A	48510452	C	A	48510452	2	1	408	1	0	0	0	0	0	0	0	1	11090	581	21	5		5	OR4A47	11	48510452	Silent	SNP	C	TCGA-RY-A847-01A-11D-A36O-08		48510452	86496064	14	33740											
HERC1	8925	broad.mit.edu	37	15	64045206	64045206	+	Missense_Mutation	SNP	T	T	C			TCGA-RY-A847-01A-11D-A36O-08	TCGA-RY-A847-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9917b575-97ed-48ed-bc5d-8ddf1246fa21	dacc4361-84fe-4fd7-8c3b-0709ce0b7400	g.chr15:64045206T>C	ENST00000443617.2	-	8	1940	c.1853A>G	c.(1852-1854)aAa>aGa	p.K618R		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	618					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						AGCACAAACTTTGCGAATGAA	0.378													3	41					0	0	1	0	0	C	64045206	T	C	64045206	3	2	408	1	0	0	0	0	1	0	0	0	7098	1841	64	3	13016	3	HERC1	15	64045206	Missense_Mutation	SNP	T	TCGA-RY-A847-01A-11D-A36O-08		64045206	38486186	15	33741											
RASGRF1	5923	broad.mit.edu	37	15	79312394	79312394	+	Missense_Mutation	SNP	G	G	A			TCGA-RY-A847-01A-11D-A36O-08	TCGA-RY-A847-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9917b575-97ed-48ed-bc5d-8ddf1246fa21	dacc4361-84fe-4fd7-8c3b-0709ce0b7400	g.chr15:79312394G>A	ENST00000419573.3	-	11	1869	c.1595C>T	c.(1594-1596)aCg>aTg	p.T532M	RASGRF1_ENST00000560334.1_5'UTR|RASGRF1_ENST00000558480.2_Missense_Mutation_p.T532M	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	532	PH 2.				activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						TTCCTCCTCCGTGCTTTCTGG	0.498													8	66					0	0	1	0	0	A	79312394	G	A	79312394	3	1	408	1	0	0	0	0	1	0	0	0	13124	1145	40	1	2298	1	RASGRF1	15	79312394	Missense_Mutation	SNP	G	TCGA-RY-A847-01A-11D-A36O-08	15267188	79312394	23218998	16	33742											
ABCC11	85320	broad.mit.edu	37	16	48218516	48218516	+	Silent	SNP	C	C	T	rs141323816		TCGA-RY-A847-01A-11D-A36O-08	TCGA-RY-A847-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9917b575-97ed-48ed-bc5d-8ddf1246fa21	dacc4361-84fe-4fd7-8c3b-0709ce0b7400	g.chr16:48218516C>T	ENST00000394747.1	-	22	3442	c.3093G>A	c.(3091-3093)gcG>gcA	p.A1031A	ABCC11_ENST00000565329.1_5'UTR|ABCC11_ENST00000394748.1_Silent_p.A1031A|ABCC11_ENST00000353782.5_Silent_p.A1031A|ABCC11_ENST00000356608.2_Silent_p.A1031A	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	1031	ABC transmembrane type-1 2.					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)				AGTTATTCTGCGCATCAGTCA	0.512													21	31					0	0	1	0	0	T	48218516	C	T	48218516	2	4	408	1	0	0	0	0	0	0	0	1	51	755	27	1		1	ABCC11	16	48218516	Silent	SNP	C	TCGA-RY-A847-01A-11D-A36O-08		48218516	42136237	17	33743											
FUT5	2527	broad.mit.edu	37	19	5866758	5866758	+	Missense_Mutation	SNP	C	C	T			TCGA-RY-A847-01A-11D-A36O-08	TCGA-RY-A847-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9917b575-97ed-48ed-bc5d-8ddf1246fa21	dacc4361-84fe-4fd7-8c3b-0709ce0b7400	g.chr19:5866758C>T	ENST00000252675.5	-	5	1541	c.979G>A	c.(979-981)Gcc>Acc	p.A327T	FUT5_ENST00000588525.1_Missense_Mutation_p.A327T			Q11128	FUT5_HUMAN	fucosyltransferase 5 (alpha (1,3) fucosyltransferase)	327					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity|alpha(1,3)-fucosyltransferase activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	12						AGGTAGCGGGCGTGGTCCTTG	0.642													6	30					0	0	1	0	0	T	5866758	C	T	5866758	3	4	408	1	0	0	0	0	1	0	0	0	6142	768	27	1	149	1	FUT5	19	5866758	Missense_Mutation	SNP	C	TCGA-RY-A847-01A-11D-A36O-08		5866758	53262225	18	33744											
MUC16	94025	broad.mit.edu	37	19	9047027	9047027	+	Missense_Mutation	SNP	G	G	A	rs111231164		TCGA-RY-A847-01A-11D-A36O-08	TCGA-RY-A847-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9917b575-97ed-48ed-bc5d-8ddf1246fa21	dacc4361-84fe-4fd7-8c3b-0709ce0b7400	g.chr19:9047027G>A	ENST00000397910.4	-	5	34807	c.34604C>T	c.(34603-34605)aCg>aTg	p.T11535M		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11537	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.T7168M(1)|p.T11535M(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GATAGTTGTCGTTGAAACAGC	0.512													10	41					0	0	1	0	0	A	9047027	G	A	9047027	3	1	408	1	0	0	0	0	1	0	0	0	10021	1145	40	1	9239	1	MUC16	19	9047027	Missense_Mutation	SNP	G	TCGA-RY-A847-01A-11D-A36O-08	3180269	9047027	50081956	19	33745											
RNF114	55905	broad.mit.edu	37	20	48558201	48558201	+	Missense_Mutation	SNP	C	C	T			TCGA-RY-A847-01A-11D-A36O-08	TCGA-RY-A847-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9917b575-97ed-48ed-bc5d-8ddf1246fa21	dacc4361-84fe-4fd7-8c3b-0709ce0b7400	g.chr20:48558201C>T	ENST00000244061.2	+	2	246	c.244C>T	c.(244-246)Cgg>Tgg	p.R82W		NM_018683.3	NP_061153.1	Q9Y508	RN114_HUMAN	ring finger protein 114	82					cell differentiation|multicellular organismal development|spermatogenesis	intracellular	zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(1)|ovary(1)	5						GGAGCTCGAGCGGCAGATCGA	0.557													4	110					0	0	1	0	0	T	48558201	C	T	48558201	3	4	408	1	0	0	0	0	1	0	0	0	13481	759	27	1	250	1	RNF114	20	48558201	Missense_Mutation	SNP	C	TCGA-RY-A847-01A-11D-A36O-08		48558201	14467319	20	33746											
TGIF2LY	90655	broad.mit.edu	37	Y	3447662	3447662	+	Missense_Mutation	SNP	C	C	T			TCGA-RY-A847-01A-11D-A36O-08	TCGA-RY-A847-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9917b575-97ed-48ed-bc5d-8ddf1246fa21	dacc4361-84fe-4fd7-8c3b-0709ce0b7400	g.chrY:3447662C>T	ENST00000559055.2	+	1	507	c.377C>T	c.(376-378)aCg>aTg	p.T126M	TGIF2LY_ENST00000321217.4_Missense_Mutation_p.T126M			Q8IUE0	TF2LY_HUMAN	TGFB-induced factor homeobox 2-like, Y-linked	126						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|upper_aerodigestive_tract(1)	2						GGCCACAAAACGGGCAAAGAT	0.547													13	22					0	0	1	0	0	T	3447662	C	T	3447662	3	4	408	1	0	0	0	0	1	0	0	0	15888	536	19	1	379	1	TGIF2LY	24	3447662	Missense_Mutation	SNP	C	TCGA-RY-A847-01A-11D-A36O-08		3447662	55925904	21	33747											
PGD	5226	broad.mit.edu	37	1	10479685	10479685	+	Splice_Site	SNP	A	A	G			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr1:10479685A>G	ENST00000538557.1	+	13	1537		c.e13-1		PGD_ENST00000541529.1_Splice_Site|PGD_ENST00000498356.1_Splice_Site|PGD_ENST00000270776.8_Splice_Site			P52209	6PGD_HUMAN	phosphogluconate dehydrogenase						pentose-phosphate shunt, oxidative branch	cytosol	NADP binding|phosphogluconate dehydrogenase (decarboxylating) activity|protein binding			NS(1)|breast(1)|cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	14	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.14e-07)|COAD - Colon adenocarcinoma(227;7.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.00832)|READ - Rectum adenocarcinoma(331;0.0487)		CTCGTTTCCTAGGCTCAGCGG	0.587													50	94					0	0	1	0	0	G	10479685	A	G	10479685	5	3	409	1	0	0	0	0	0	0	1	0	11835	434	15	3	1381	3	PGD	1	10479685	Splice_Site	SNP	A	TCGA-S9-A6TS-01A-12D-A33T-08		10479685	238770936	1	33748											
HSPG2	3339	broad.mit.edu	37	1	22168605	22168605	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr1:22168605G>A	ENST00000374695.3	-	69	9162	c.9083C>T	c.(9082-9084)cCg>cTg	p.P3028L		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	3028	Ig-like C2-type 16.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	GCTGCTGGGCGGGTCGATGGA	0.677													39	51					0	0	1	0	0	A	22168605	G	A	22168605	3	1	409	1	0	0	0	0	1	0	0	0	7474	1116	39	1	4208	1	HSPG2	1	22168605	Missense_Mutation	SNP	G	TCGA-S9-A6TS-01A-12D-A33T-08	11688920	22168605	227082016	2	33749											
KLF17	128209	broad.mit.edu	37	1	44595585	44595585	+	Silent	SNP	G	G	A			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr1:44595585G>A	ENST00000372299.3	+	2	700	c.642G>A	c.(640-642)ccG>ccA	p.P214P	KLF17_ENST00000476802.1_Intron	NM_173484.3	NP_775755.3	Q5JT82	KLF17_HUMAN	Kruppel-like factor 17	214					regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|large_intestine(1)|lung(6)|ovary(3)|prostate(1)|skin(2)|stomach(1)	18	Acute lymphoblastic leukemia(166;0.155)					TGTTGCCCCCGCAAGATGCCC	0.572													15	110					0	0	1	0	0	A	44595585	G	A	44595585	2	1	409	1	0	0	0	0	0	0	0	1	8388	1074	38	1		1	KLF17	1	44595585	Silent	SNP	G	TCGA-S9-A6TS-01A-12D-A33T-08	22426980	44595585	204655036	3	33750											
MAGOH	4116	broad.mit.edu	37	1	53692717	53692717	+	Silent	SNP	C	C	T	rs75427086	byFrequency	TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr1:53692717C>T	ENST00000371470.3	-	5	602	c.441G>A	c.(439-441)taG>taA	p.*147*	MAGOH_ENST00000371466.4_Silent_p.*110*	NM_002370.3	NP_002361.1	P61326	MGN_HUMAN	mago-nashi homolog, proliferation-associated (Drosophila)	0					mRNA 3'-end processing|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|exon-exon junction complex|nuclear speck	protein binding|RNA binding			haematopoietic_and_lymphoid_tissue(1)|lung(4)|urinary_tract(1)	6						AATATTCAGTCTAGATTGGTT	0.368													4	55					0	0	1	0	0	T	53692717	C	T	53692717	2	4	409	1	0	0	0	0	0	0	0	1	9244	924	32	2		2	MAGOH	1	53692717	Silent	SNP	C	TCGA-S9-A6TS-01A-12D-A33T-08	9097132	53692717	195557904	4	33751											
IL12RB2	3595	broad.mit.edu	37	1	67793919	67793919	+	Silent	SNP	A	A	G			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr1:67793919A>G	ENST00000262345.1	+	5	1156	c.516A>G	c.(514-516)caA>caG	p.Q172Q	IL12RB2_ENST00000541374.1_Silent_p.Q172Q|IL12RB2_ENST00000544434.1_Silent_p.Q172Q|IL12RB2_ENST00000371000.1_Silent_p.Q172Q	NM_001559.2	NP_001550.1	Q99665	I12R2_HUMAN	interleukin 12 receptor, beta 2	172	Fibronectin type-III 1.				positive regulation of cell proliferation|positive regulation of interferon-gamma production	integral to plasma membrane	cytokine receptor activity			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(21)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	45						GGCAGAAGCAATGTAAAGACA	0.388													107	180					0	0	1	0	0	G	67793919	A	G	67793919	2	3	409	1	0	0	0	0	0	0	0	1	7671	98	4	3		3	IL12RB2	1	67793919	Silent	SNP	A	TCGA-S9-A6TS-01A-12D-A33T-08	14101202	67793919	181456702	5	33752											
OR10J3	441911	broad.mit.edu	37	1	159284144	159284144	+	Silent	SNP	G	G	T			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr1:159284144G>T	ENST00000332217.5	-	1	305	c.306C>A	c.(304-306)ctC>ctA	p.L102L		NM_001004467.1	NP_001004467.1	Q5JRS4	O10J3_HUMAN	olfactory receptor, family 10, subfamily J, member 3	102					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	47	all_hematologic(112;0.0429)					GATAGAAGAAGAGCTGAGTGG	0.502													19	130					2.94398e-08	3.15766e-08	1	1	0	T	159284144	G	T	159284144	2	4	409	1	0	0	0	0	0	0	0	1	10959	929	33	4		4	OR10J3	1	159284144	Silent	SNP	G	TCGA-S9-A6TS-01A-12D-A33T-08	91490225	159284144	89966477	6	33753											
SRGAP2	23380	broad.mit.edu	37	1	206634405	206634405	+	Silent	SNP	G	G	A			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr1:206634405G>A	ENST00000414007.1	+	19	2436	c.2436G>A	c.(2434-2436)tcG>tcA	p.S812S				O75044	FNBP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 2	952					axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			NS(1)|breast(1)|kidney(1)|lung(1)	4	Breast(84;0.137)					CAATGAACTCGGCCCTGAATG	0.537													15	55					0	0	1	0	0	A	206634405	G	A	206634405	2	1	409	1	0	0	0	0	0	0	0	1	15202	1103	39	1		1	SRGAP2	1	206634405	Silent	SNP	G	TCGA-S9-A6TS-01A-12D-A33T-08	47350261	206634405	42616216	7	33754											
USH2A	7399	broad.mit.edu	37	1	216262396	216262396	+	Missense_Mutation	SNP	T	T	A			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr1:216262396T>A	ENST00000366943.2	-	23	5230	c.4844A>T	c.(4843-4845)cAt>cTt	p.H1615L	USH2A_ENST00000307340.3_Missense_Mutation_p.H1615L			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1615	Laminin G-like 1.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		AAAAGCCTGATGCCTAATAGC	0.368										HNSCC(13;0.011)			6	219					0	0	1	0	0	A	216262396	T	A	216262396	3	1	409	1	0	0	0	0	1	0	0	0	17096	1464	51	4	10964	4	USH2A	1	216262396	Missense_Mutation	SNP	T	TCGA-S9-A6TS-01A-12D-A33T-08	9627991	216262396	32988225	8	33755											
WDR64	128025	broad.mit.edu	37	1	241886728	241886728	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr1:241886728C>T	ENST00000366552.2	+	9	1361	c.1154C>T	c.(1153-1155)tCc>tTc	p.S385F	WDR64_ENST00000437684.2_Missense_Mutation_p.S385F	NM_144625.4	NP_653226.4	B1ANS9	WDR64_HUMAN	WD repeat domain 64	385								p.S385Y(1)|p.S105Y(1)		breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(17)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	Ovarian(103;0.103)	all_cancers(173;0.0121)	OV - Ovarian serous cystadenocarcinoma(106;0.0116)			GTCAGCCTTTCCTCTGCAAAG	0.383													17	39					0	0	1	0	0	T	241886728	C	T	241886728	3	4	409	1	0	0	0	0	1	0	0	0	17375	855	30	2	1188	2	WDR64	1	241886728	Missense_Mutation	SNP	C	TCGA-S9-A6TS-01A-12D-A33T-08	25624332	241886728	7363893	9	33756											
CNGA3	1261	broad.mit.edu	37	2	99013230	99013230	+	Missense_Mutation	SNP	G	G	T			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr2:99013230G>T	ENST00000393504.1	+	8	2014	c.1597G>T	c.(1597-1599)Gat>Tat	p.D533Y	CNGA3_ENST00000436404.2_Missense_Mutation_p.D515Y|CNGA3_ENST00000272602.2_Missense_Mutation_p.D533Y|CNGA3_ENST00000409937.1_Missense_Mutation_p.D537Y	NM_001298.2	NP_001289.1	Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3	533					signal transduction|visual perception	integral to membrane	cGMP binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						GGTGGCTGATGATGGGGTCAC	0.562													18	235					6.94344e-10	7.69565e-10	1	1	0	T	99013230	G	T	99013230	3	4	409	1	0	0	0	0	1	0	0	0	3621	1290	45	5	1623	5	CNGA3	2	99013230	Missense_Mutation	SNP	G	TCGA-S9-A6TS-01A-12D-A33T-08		99013230	144186143	10	33757	145	2									
CNGA3	1261	broad.mit.edu	37	2	99013232	99013232	+	Missense_Mutation	SNP	T	T	A			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr2:99013232T>A	ENST00000393504.1	+	8	2016	c.1599T>A	c.(1597-1599)gaT>gaA	p.D533E	CNGA3_ENST00000436404.2_Missense_Mutation_p.D515E|CNGA3_ENST00000272602.2_Missense_Mutation_p.D533E|CNGA3_ENST00000409937.1_Missense_Mutation_p.D537E	NM_001298.2	NP_001289.1	Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3	533					signal transduction|visual perception	integral to membrane	cGMP binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						TGGCTGATGATGGGGTCACCC	0.562													17	237					0	0	1	0	0	A	99013232	T	A	99013232	3	1	409	1	0	0	0	0	1	0	0	0	3621	1461	51	4	1625	4	CNGA3	2	99013232	Missense_Mutation	SNP	T	TCGA-S9-A6TS-01A-12D-A33T-08	2	99013232	144186141	11	33758	145	2									
TTN	7273	broad.mit.edu	37	2	179472196	179472196	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr2:179472196C>T	ENST00000589042.1	-	277	53443	c.53219G>A	c.(53218-53220)gGc>gAc	p.G17740D	TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G15172D|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G8867D|TTN_ENST00000591111.1_Missense_Mutation_p.G16099D|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G8800D|TTN_ENST00000460472.2_Missense_Mutation_p.G8675D|TTN-AS1_ENST00000589830.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	16099							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CACATATCTGCCATGGTCTTT	0.413													52	412					0	0	1	0	0	T	179472196	C	T	179472196	3	4	409	1	0	0	0	0	1	0	0	0	16797	739	26	2	54818	2	TTN	2	179472196	Missense_Mutation	SNP	C	TCGA-S9-A6TS-01A-12D-A33T-08	80458964	179472196	63727177	12	33759											
TTN	7273	broad.mit.edu	37	2	179616389	179616392	+	Frame_Shift_Del	DEL	ACCT	ACCT	-			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr2:179616389_179616392delACCT	ENST00000360870.5	-	46	10957_10960	c.10735_10738delAGGT	c.(10735-10740)aggttafs	p.RL3579fs	TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000589042.1_Intron	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	3574	Ig-like 21.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATTGCTAGTAACCTATAACTTCCA	0.377													11	312	---	---	---	---						-	179616392	ACCT	-	179616389	7	5	409	1	0	1	0	1	0	0	0	0	16797	40	2	0	99559	0	TTN	2	179616389	Frame_Shift_Del	DEL	ACCT	TCGA-S9-A6TS-01A-12D-A33T-08	144193	179616389	63582984	13	33760											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								77	91					0	0	1	0	0	T	209113112	C	T	209113112	3	4	409	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-S9-A6TS-01A-12D-A33T-08	29496723	209113112	34086261	14	33761											
INPP5D	3635	broad.mit.edu	37	2	234113018	234113018	+	Silent	SNP	C	C	T			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr2:234113018C>T	ENST00000359570.5	+	28	3186	c.3186C>T	c.(3184-3186)ccC>ccT	p.P1062P	INPP5D_ENST00000455936.2_Silent_p.P826P|INPP5D_ENST00000450745.1_Silent_p.P826P			Q92835	SHIP1_HUMAN	inositol polyphosphate-5-phosphatase, 145kDa	0	Pro-rich.				apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway	cytosol	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		GCGAGGGGCCCGGCAAGCAGG	0.706													6	67					0	0	1	0	0	T	234113018	C	T	234113018	2	4	409	1	0	0	0	0	0	0	0	1	7800	639	23	1		1	INPP5D	2	234113018	Silent	SNP	C	TCGA-S9-A6TS-01A-12D-A33T-08	24999906	234113018	9086355	15	33762											
LRRC3B	116135	broad.mit.edu	37	3	26751539	26751539	+	Missense_Mutation	SNP	C	C	G			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr3:26751539C>G	ENST00000396641.2	+	2	968	c.376C>G	c.(376-378)Caa>Gaa	p.Q126E	LRRC3B_ENST00000456208.2_Missense_Mutation_p.Q126E|LRRC3B_ENST00000417744.1_Missense_Mutation_p.Q126E	NM_052953.2	NP_443185.1	Q96PB8	LRC3B_HUMAN	leucine rich repeat containing 3B	126						integral to membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	21						CAATCGGATTCAAAGTGTGCA	0.478													4	113					0	0	1	0	0	G	26751539	C	G	26751539	3	3	409	1	0	0	0	0	1	0	0	0	9041	827	29	5	378	5	LRRC3B	3	26751539	Missense_Mutation	SNP	C	TCGA-S9-A6TS-01A-12D-A33T-08		26751539	171270891	16	33763											
CDCP1	64866	broad.mit.edu	37	3	45132791	45132791	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr3:45132791C>T	ENST00000296129.1	-	7	2001	c.1867G>A	c.(1867-1869)Gag>Aag	p.E623K		NM_022842.3	NP_073753.3	Q9H5V8	CDCP1_HUMAN	CUB domain containing protein 1	623						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)		AGCACATCCTCGTCCAGGCTG	0.592													18	135					0	0	1	0	0	T	45132791	C	T	45132791	3	4	409	1	0	0	0	0	1	0	0	0	3115	893	31	1	655	1	CDCP1	3	45132791	Missense_Mutation	SNP	C	TCGA-S9-A6TS-01A-12D-A33T-08	18381252	45132791	152889639	17	33764											
SMARCC1	6599	broad.mit.edu	37	3	47762184	47762184	+	Missense_Mutation	SNP	A	A	C			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr3:47762184A>C	ENST00000254480.5	-	7	807	c.688T>G	c.(688-690)Tta>Gta	p.L230V	SMARCC1_ENST00000425518.1_5'UTR	NM_003074.3	NP_003065.3	Q92922	SMRC1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1	230					chromatin remodeling|nervous system development|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex|WINAC complex	DNA binding|protein N-terminus binding|transcription coactivator activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33				BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)		CAATGCACTAACACTTGCTTC	0.353													45	338					0	0	1	0	0	C	47762184	A	C	47762184	3	2	409	1	0	0	0	0	1	0	0	0	14829	40	2	5	2717	5	SMARCC1	3	47762184	Missense_Mutation	SNP	A	TCGA-S9-A6TS-01A-12D-A33T-08	2629393	47762184	150260246	18	33765											
USP4	7375	broad.mit.edu	37	3	49362451	49362451	+	Missense_Mutation	SNP	C	C	T	rs117411669	by1000genomes	TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr3:49362451C>T	ENST00000351842.4	-	5	517	c.509G>A	c.(508-510)cGg>cAg	p.R170Q	USP4_ENST00000416417.1_Missense_Mutation_p.R170Q|USP4_ENST00000265560.4_Missense_Mutation_p.R170Q|USP4_ENST00000415188.1_Missense_Mutation_p.R170Q	NM_199443.2	NP_955475.1	Q13107	UBP4_HUMAN	ubiquitin specific peptidase 4 (proto-oncogene)	170					negative regulation of protein ubiquitination|protein deubiquitination|protein localization at cell surface|regulation of protein stability|ubiquitin-dependent protein catabolic process	lysosome|nucleus	adenosine receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121)		OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05)		GAATAGCTTCCGCATCTCTTT	0.488													102	150					0	0	1	0	0	T	49362451	C	T	49362451	3	4	409	1	0	0	0	0	1	0	0	0	17131	652	23	1	2454	1	USP4	3	49362451	Missense_Mutation	SNP	C	TCGA-S9-A6TS-01A-12D-A33T-08	1600267	49362451	148659979	19	33766											
KBTBD8	84541	broad.mit.edu	37	3	67058751	67058751	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr3:67058751G>A	ENST00000295568.4	+	4	1801	c.1670G>A	c.(1669-1671)cGg>cAg	p.R557Q	KBTBD8_ENST00000460576.1_Missense_Mutation_p.R141Q|KBTBD8_ENST00000417314.2_Missense_Mutation_p.R583Q	NM_032505.2	NP_115894.2	Q8NFY9	KBTB8_HUMAN	kelch repeat and BTB (POZ) domain containing 8	583										breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)	20		Lung NSC(201;0.0765)		BRCA - Breast invasive adenocarcinoma(55;6.02e-06)|KIRC - Kidney renal clear cell carcinoma(39;0.105)|Kidney(39;0.125)		GACCTTGGCCGGCATTTTGAA	0.443													11	145					0	0	1	0	0	A	67058751	G	A	67058751	3	1	409	1	0	0	0	0	1	0	0	0	8043	1116	39	1	1762	1	KBTBD8	3	67058751	Missense_Mutation	SNP	G	TCGA-S9-A6TS-01A-12D-A33T-08	17696300	67058751	130963679	20	33767											
LMOD3	56203	broad.mit.edu	37	3	69168928	69168928	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr3:69168928T>C	ENST00000420581.2	-	2	757	c.578A>G	c.(577-579)gAc>gGc	p.D193G	LMOD3_ENST00000475434.1_Missense_Mutation_p.D193G|LMOD3_ENST00000489031.1_Missense_Mutation_p.D193G	NM_198271.3	NP_938012.2	Q0VAK6	LMOD3_HUMAN	leiomodin 3 (fetal)	193						cytoplasm|cytoskeleton	tropomyosin binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)	13		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;7.88e-05)|Epithelial(33;0.000839)|LUSC - Lung squamous cell carcinoma(21;0.0119)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.205)|Kidney(39;0.24)		GAATGCTTTGTCAGTTACCTG	0.408													5	38					0	0	1	0	0	C	69168928	T	C	69168928	3	2	409	1	0	0	0	0	1	0	0	0	8899	1667	58	3	1112	3	LMOD3	3	69168928	Missense_Mutation	SNP	T	TCGA-S9-A6TS-01A-12D-A33T-08	2110177	69168928	128853502	21	33768											
CCDC58	131076	broad.mit.edu	37	3	122090540	122090540	+	Missense_Mutation	SNP	A	A	C			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr3:122090540A>C	ENST00000291458.5	-	2	165	c.159T>G	c.(157-159)tgT>tgG	p.C53W	CCDC58_ENST00000479899.1_Missense_Mutation_p.C39W|CCDC58_ENST00000497726.1_Intron	NM_001017928.2	NP_001017928.1	Q4VC31	CCD58_HUMAN	coiled-coil domain containing 58	53										large_intestine(1)|lung(1)	2				GBM - Glioblastoma multiforme(114;0.148)		AAAGTTGTTTACAGGTTTGGC	0.373													80	126					0	0	1	0	0	C	122090540	A	C	122090540	3	2	409	1	0	0	0	0	1	0	0	0	2848	389	14	5	291	5	CCDC58	3	122090540	Missense_Mutation	SNP	A	TCGA-S9-A6TS-01A-12D-A33T-08	52921612	122090540	75931890	22	33769											
SUCNR1	56670	broad.mit.edu	37	3	151598945	151598945	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr3:151598945T>C	ENST00000362032.5	+	3	719	c.614T>C	c.(613-615)tTc>tCc	p.F205S	RP11-454C18.2_ENST00000483843.2_RNA|RP11-454C18.2_ENST00000475855.1_RNA	NM_033050.4	NP_149039.2	Q9BXA5	SUCR1_HUMAN	succinate receptor 1							integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	14			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)		Succinic acid(DB00139)	GTGATGTGTTTCTTTTATTAC	0.428													6	228					0	0	1	0	0	C	151598945	T	C	151598945	3	2	409	1	0	0	0	0	1	0	0	0	15422	1783	62	3	620	3	SUCNR1	3	151598945	Missense_Mutation	SNP	T	TCGA-S9-A6TS-01A-12D-A33T-08	29508405	151598945	46423485	23	33770											
MUC4	4585	broad.mit.edu	37	3	195513169	195513169	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr3:195513169A>G	ENST00000463781.3	-	2	5741	c.5282T>C	c.(5281-5283)cTt>cCt	p.L1761P	MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.L1761P|MUC4_ENST00000349607.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	553					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GGTGACAGGAAGAGGGGTGGC	0.582													3	4					0	0	1	0	0	G	195513169	A	G	195513169	3	3	409	1	0	0	0	0	1	0	0	0	10026	72	3	3		3	MUC4	3	195513169	Missense_Mutation	SNP	A	TCGA-S9-A6TS-01A-12D-A33T-08	43914224	195513169	2509261	24	33771											
POLN	353497	broad.mit.edu	37	4	2210033	2210033	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr4:2210033T>C	ENST00000511885.2	-	5	748	c.395A>G	c.(394-396)aAg>aGg	p.K132R	POLN_ENST00000382865.1_Missense_Mutation_p.K132R|POLN_ENST00000515357.1_5'UTR			Q7Z5Q5	DPOLN_HUMAN	polymerase (DNA directed) nu	132					DNA repair|DNA replication	nucleus	DNA binding|DNA-directed DNA polymerase activity			kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(2)|skin(4)|urinary_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(23;0.0955)			TTTATGCCCCTTTTTCTGTAG	0.313								DNA polymerases (catalytic subunits)					4	263					0	0	1	0	0	C	2210033	T	C	2210033	3	2	409	1	0	0	0	0	1	0	0	0	12255	1609	56	3	2395	3	POLN	4	2210033	Missense_Mutation	SNP	T	TCGA-S9-A6TS-01A-12D-A33T-08		2210033	188944243	25	33772											
TACR3	6870	broad.mit.edu	37	4	104512798	104512798	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr4:104512798A>G	ENST00000304883.2	-	4	1071	c.931T>C	c.(931-933)Tgc>Cgc	p.C311R	RP11-297P16.3_ENST00000512401.1_RNA|RP11-297P16.3_ENST00000502936.1_RNA	NM_001059.2	NP_001050.1	P29371	NK3R_HUMAN	tachykinin receptor 3	311						integral to plasma membrane	tachykinin receptor activity			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		GGCAGCCAGCAGATAGCAAAT	0.338													5	88					0	0	1	0	0	G	104512798	A	G	104512798	3	3	409	1	0	0	0	0	1	0	0	0	15564	188	7	3	474	3	TACR3	4	104512798	Missense_Mutation	SNP	A	TCGA-S9-A6TS-01A-12D-A33T-08	102302765	104512798	86641478	26	33773											
ANKRD50	57182	broad.mit.edu	37	4	125631651	125631651	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr4:125631651C>T	ENST00000504087.1	-	2	1053	c.16G>A	c.(16-18)Gaa>Aaa	p.E6K	ANKRD50_ENST00000515641.1_Intron	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	6										NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						ACTTTCTCTTCCCAAGGATTA	0.408													28	287					0	0	1	0	0	T	125631651	C	T	125631651	3	4	409	1	0	0	0	0	1	0	0	0	671	864	30	2	4285	2	ANKRD50	4	125631651	Missense_Mutation	SNP	C	TCGA-S9-A6TS-01A-12D-A33T-08	21118853	125631651	65522625	27	33774											
FBXW7	55294	broad.mit.edu	37	4	153251912	153251912	+	Missense_Mutation	SNP	C	C	G			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr4:153251912C>G	ENST00000281708.4	-	7	2323	c.1094G>C	c.(1093-1095)tGg>tCg	p.W365S	FBXW7_ENST00000603548.1_Missense_Mutation_p.W365S|FBXW7_ENST00000603841.1_Missense_Mutation_p.W365S|FBXW7_ENST00000263981.5_Missense_Mutation_p.W285S|FBXW7_ENST00000296555.5_Missense_Mutation_p.W247S|FBXW7_ENST00000393956.3_Missense_Mutation_p.W189S	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	365					interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleoplasm|SCF ubiquitin ligase complex	protein binding	p.?(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				TCCTCGCCTCCAGTTAGTATC	0.398			"Mis, N, D, F"		"colorectal, endometrial, T-ALL"								11	277					0	0	1	0	0	G	153251912	C	G	153251912	3	3	409	1	0	0	0	0	1	0	0	0	5802	595	21	5	1053	5	FBXW7	4	153251912	Missense_Mutation	SNP	C	TCGA-S9-A6TS-01A-12D-A33T-08	27620261	153251912	37902364	28	33775											
MND1	84057	broad.mit.edu	37	4	154265890	154265890	+	Translation_Start_Site	SNP	A	A	T			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr4:154265890A>T	ENST00000240488.3	+	1	90	c.1A>T	c.(1-3)Atg>Ttg	p.M1L	MND1_ENST00000503967.1_3'UTR	NM_001253861.1|NM_032117.3	NP_001240790.1|NP_115493.1	Q9BWT6	MND1_HUMAN	meiotic nuclear divisions 1 homolog (S. cerevisiae)	1					DNA recombination|meiosis	nucleus	DNA binding			large_intestine(2)|lung(1)	3	all_hematologic(180;0.093)					CGCCCGCGCCATGGTAAGGAC	0.711													9	14					0	0	1	0	0	T	154265890	A	T	154265890	1	4	409	1	0	0	0	0	0	0	0	0	9724	217	8	4		4	MND1	4	154265890	Translation_Start_Site	SNP	A	TCGA-S9-A6TS-01A-12D-A33T-08	1013978	154265890	36888386	29	33776											
SLC9A3	6550	broad.mit.edu	37	5	524298	524298	+	Frame_Shift_Del	DEL	A	A	-			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr5:524298delA	ENST00000264938.3	-	1	149	c.140delT	c.(139-141)ttcfs	p.F47fs	SLC9A3_ENST00000514375.1_Frame_Shift_Del_p.F47fs	NM_004174.2	NP_004165.2	P48764	SL9A3_HUMAN	solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3	47						cell surface|integral to membrane	sodium:hydrogen antiporter activity			NS(2)|biliary_tract(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(16)|prostate(3)|skin(2)|urinary_tract(1)	37			Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			GGCCCACTCGAAGGTGACCAC	0.731													2	4	---	---	---	---						-	524298	A	-	524298	7	5	409	1	0	1	0	1	0	0	0	0	14768	246	9	0	2432	0	SLC9A3	5	524298	Frame_Shift_Del	DEL	A	TCGA-S9-A6TS-01A-12D-A33T-08		524298	180390962	30	33777											
TCERG1	10915	broad.mit.edu	37	5	145838643	145838643	+	Missense_Mutation	SNP	A	A	C			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr5:145838643A>C	ENST00000296702.5	+	4	673	c.635A>C	c.(634-636)cAg>cCg	p.Q212P	TCERG1_ENST00000394421.2_Missense_Mutation_p.Q212P	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	transcription elongation regulator 1	212	Ala/Gln-rich.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			gctcaggcccaggcccaggcc	0.736													22	55					0	0	1	0	0	C	145838643	A	C	145838643	3	2	409	1	0	0	0	0	1	0	0	0	15745	188	7	5	649	5	TCERG1	5	145838643	Missense_Mutation	SNP	A	TCGA-S9-A6TS-01A-12D-A33T-08	145314345	145838643	35076617	31	33778											
TFAP2B	7021	broad.mit.edu	37	6	50810826	50810826	+	Silent	SNP	G	G	T	rs151001753	byFrequency	TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr6:50810826G>T	ENST00000263046.4	+	8	1297	c.1131G>T	c.(1129-1131)acG>acT	p.T377T	TFAP2B_ENST00000393655.3_Silent_p.T368T			Q92481	AP2B_HUMAN	transcription factor AP-2 beta (activating enhancer binding protein 2 beta)	368				QLCKEFTDLLAQDRTPIGNSRPSPILEPGIQSCLTHFSLIT HGFGAPAICAALTALQNYLTEALKGMDKMFLNNTTTNRHTS GEGPGSKTGDKEEKHRK -> GNFVKNLRIYWRRTGHR (in Ref. 1; CAA71047).	nervous system development|positive regulation of transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)	40	Lung NSC(77;0.156)					AAGAATTTACGGATCTACTGG	0.557													37	265					2.51541e-25	2.90913e-25	1	1	0	T	50810826	G	T	50810826	2	4	409	1	0	0	0	0	0	0	0	1	15848	1103	39	5		5	TFAP2B	6	50810826	Silent	SNP	G	TCGA-S9-A6TS-01A-12D-A33T-08		50810826	120304241	32	33779											
HACE1	57531	broad.mit.edu	37	6	105177553	105177553	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr6:105177553C>T	ENST00000262903.4	-	24	2990	c.2714G>A	c.(2713-2715)gGt>gAt	p.G905D	HACE1_ENST00000517995.1_5'UTR|HACE1_ENST00000369125.2_Missense_Mutation_p.G690D	NM_020771.3	NP_065822.2	Q8IYU2	HACE1_HUMAN	HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1	905	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	endoplasmic reticulum	ubiquitin-protein ligase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	44		all_cancers(87;6.89e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0216)|Colorectal(196;0.202)		BRCA - Breast invasive adenocarcinoma(108;0.122)|Epithelial(106;0.204)		CATTGTGTAACCATAGCTGCC	0.383													21	180					0	0	1	0	0	T	105177553	C	T	105177553	3	4	409	1	0	0	0	0	1	0	0	0	6981	507	18	2	19	2	HACE1	6	105177553	Missense_Mutation	SNP	C	TCGA-S9-A6TS-01A-12D-A33T-08	54366727	105177553	65937514	33	33780											
LAMA2	3908	broad.mit.edu	37	6	129781361	129781361	+	Missense_Mutation	SNP	G	G	A	rs142164767	by1000genomes	TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr6:129781361G>A	ENST00000421865.2	+	49	6933	c.6884G>A	c.(6883-6885)cGt>cAt	p.R2295H		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	2295	Laminin G-like 1.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		GATGCTGTACGTGTGATTACA	0.383													108	160					0	0	1	0	0	A	129781361	G	A	129781361	3	1	409	1	0	0	0	0	1	0	0	0	8645	1145	40	1	7078	1	LAMA2	6	129781361	Missense_Mutation	SNP	G	TCGA-S9-A6TS-01A-12D-A33T-08	24603808	129781361	41333706	34	33781											
RNF216	54476	broad.mit.edu	37	7	5662580	5662580	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr7:5662580G>A	ENST00000425013.2	-	17	2736	c.2512C>T	c.(2512-2514)Cgg>Tgg	p.R838W	RNF216_ENST00000469375.1_5'UTR|RNF216_ENST00000389902.3_Missense_Mutation_p.R895W	NM_207111.3|NM_207116.2	NP_996994.1|NP_996999.1	Q9NWF9	RN216_HUMAN	ring finger protein 216	838	Pro-rich.				apoptosis|interspecies interaction between organisms|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination|regulation of defense response to virus by host|regulation of interferon-beta production	cytoplasm|nucleus	ligase activity|protein binding|zinc ion binding	p.R895W(1)	FBXL18/RNF216(2)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|urinary_tract(4)	33		Ovarian(82;0.07)		UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13)		TAGTTGACCCGCACGTTGGGC	0.642													5	248					0	0	1	0	0	A	5662580	G	A	5662580	3	1	409	1	0	0	0	0	1	0	0	0	13532	1086	38	1	92	1	RNF216	7	5662580	Missense_Mutation	SNP	G	TCGA-S9-A6TS-01A-12D-A33T-08		5662580	153476083	35	33782											
POM121L12	285877	broad.mit.edu	37	7	53104086	53104086	+	Missense_Mutation	SNP	G	G	T			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr7:53104086G>T	ENST00000408890.4	+	1	738	c.722G>T	c.(721-723)gGc>gTc	p.G241V		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	241										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						CCGAGCCTCGGCCCCTGGAGC	0.647													5	100					4.096e-09	4.50221e-09	1	1	0	T	53104086	G	T	53104086	3	4	409	1	0	0	0	0	1	0	0	0	12289	1203	42	5	724	5	POM121L12	7	53104086	Missense_Mutation	SNP	G	TCGA-S9-A6TS-01A-12D-A33T-08	47441506	53104086	106034577	36	33783											
ABCB1	5243	broad.mit.edu	37	7	87145840	87145840	+	Silent	SNP	C	C	T	rs138566631	byFrequency	TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr7:87145840C>T	ENST00000265724.3	-	25	3486	c.3069G>A	c.(3067-3069)acG>acA	p.T1023T	ABCB1_ENST00000488737.2_5'UTR|ABCB1_ENST00000543898.1_Silent_p.T959T	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	1023					G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity	p.T1023T(1)		NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	TTAGGCCTTCCGTGCTGTAGC	0.388													4	181					0	0	1	0	0	T	87145840	C	T	87145840	2	4	409	1	0	0	0	0	0	0	0	1	40	639	23	1		1	ABCB1	7	87145840	Silent	SNP	C	TCGA-S9-A6TS-01A-12D-A33T-08	34041754	87145840	71992823	37	33784											
MUC17	140453	broad.mit.edu	37	7	100685442	100685442	+	Missense_Mutation	SNP	T	T	A			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr7:100685442T>A	ENST00000306151.4	+	3	10809	c.10745T>A	c.(10744-10746)cTc>cAc	p.L3582H		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3582	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					ACAACTATGCTCCTCAGCAGC	0.473													146	166					0	0	1	0	0	A	100685442	T	A	100685442	3	1	409	1	0	0	0	0	1	0	0	0	10022	1551	54	5	10755	5	MUC17	7	100685442	Missense_Mutation	SNP	T	TCGA-S9-A6TS-01A-12D-A33T-08	13539602	100685442	58453221	38	33785											
NAT2	10	broad.mit.edu	37	8	18257674	18257674	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr8:18257674C>T	ENST00000286479.3	+	2	268	c.161C>T	c.(160-162)gCt>gTt	p.A54V	NAT2_ENST00000520116.1_Intron	NM_000015.2	NP_000006.2	P11245	ARY2_HUMAN	N-acetyltransferase 2 (arylamine N-acetyltransferase)	54					xenobiotic metabolic process	cytosol	arylamine N-acetyltransferase activity			kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(2)	12				Colorectal(111;0.0531)|COAD - Colon adenocarcinoma(73;0.21)		GGCTTAGAGGCTATTTTTGAT	0.473									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of				87	186					0	0	1	0	0	T	18257674	C	T	18257674	3	4	409	1	0	0	0	0	1	0	0	0	10225	797	28	2	163	2	NAT2	8	18257674	Missense_Mutation	SNP	C	TCGA-S9-A6TS-01A-12D-A33T-08		18257674	128106348	39	33786											
PKHD1L1	93035	broad.mit.edu	37	8	110477389	110477389	+	Silent	SNP	C	C	T			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr8:110477389C>T	ENST00000378402.5	+	49	8432	c.8328C>T	c.(8326-8328)gaC>gaT	p.D2776D		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2776					immune response	cytosol|extracellular space|integral to membrane	receptor activity	p.D2778D(2)		NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			AGTTTGTTGACGTCCAGTATT	0.433										HNSCC(38;0.096)			12	130					0	0	1	0	0	T	110477389	C	T	110477389	2	4	409	1	0	0	0	0	0	0	0	1	12020	535	19	1		1	PKHD1L1	8	110477389	Silent	SNP	C	TCGA-S9-A6TS-01A-12D-A33T-08	92219715	110477389	35886633	40	33787											
ZFAT	57623	broad.mit.edu	37	8	135596191	135596191	+	Missense_Mutation	SNP	A	A	C			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr8:135596191A>C	ENST00000520727.1	-	11	3034	c.2735T>G	c.(2734-2736)cTc>cGc	p.L912R	ZFAT_ENST00000429442.2_Missense_Mutation_p.L912R|ZFAT_ENST00000520214.1_Missense_Mutation_p.L912R|ZFAT_ENST00000520356.1_Missense_Mutation_p.L912R|ZFAT_ENST00000377838.3_Missense_Mutation_p.L924R|ZFAT_ENST00000523399.1_Missense_Mutation_p.L862R|ZFAT_ENST00000517307.1_5'UTR	NM_001029939.3	NP_001025110.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	924					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			ATGAGCCTTGAGGTTACTCTT	0.403													5	15					0	0	1	0	0	C	135596191	A	C	135596191	3	2	409	1	0	0	0	0	1	0	0	0	17690	304	11	5	988	5	ZFAT	8	135596191	Missense_Mutation	SNP	A	TCGA-S9-A6TS-01A-12D-A33T-08	25118802	135596191	10767831	41	33788											
SLC39A4	55630	broad.mit.edu	37	8	145638211	145638211	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr8:145638211C>T	ENST00000276833.5	-	10	1975	c.1672G>A	c.(1672-1674)Gag>Aag	p.E558K	SLC39A4_ENST00000301305.3_Missense_Mutation_p.E583K|SLC39A4_ENST00000531013.1_5'UTR	NM_001280557.1|NM_017767.2	NP_001267486.1|NP_060237	Q6P5W5	S39A4_HUMAN	solute carrier family 39 (zinc transporter), member 4	583						cytoplasmic membrane-bounded vesicle|integral to membrane|recycling endosome membrane	zinc ion transmembrane transporter activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	14	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;1.08e-41)|Epithelial(56;1.12e-40)|all cancers(56;8.17e-36)|BRCA - Breast invasive adenocarcinoma(115;0.0407)|Colorectal(110;0.055)			TCGCTCTCCTCGCTGACTCCA	0.677													19	32					0	0	1	0	0	T	145638211	C	T	145638211	3	4	409	1	0	0	0	0	1	0	0	0	14675	893	31	1	204	1	SLC39A4	8	145638211	Missense_Mutation	SNP	C	TCGA-S9-A6TS-01A-12D-A33T-08	10042020	145638211	725811	42	33789											
AQP7	364	broad.mit.edu	37	9	33387018	33387018	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr9:33387018C>T	ENST00000539936.1	-	4	455	c.217G>A	c.(217-219)Ggt>Agt	p.G73S	AQP7_ENST00000541274.1_Intron|AQP7_ENST00000377425.4_Missense_Mutation_p.G16S|AQP7_ENST00000537089.1_Intron			O14520	AQP7_HUMAN	aquaporin 7	73					excretion|generation of precursor metabolites and energy	cell-cell junction|cytoplasm|integral to plasma membrane	glycerol channel activity|water channel activity			NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)		AAGCCAAAACCCAAGTTGACA	0.577													26	158					0	0	1	0	0	T	33387018	C	T	33387018	3	4	409	1	0	0	0	0	1	0	0	0	828	623	22	2	831	2	AQP7	9	33387018	Missense_Mutation	SNP	C	TCGA-S9-A6TS-01A-12D-A33T-08		33387018	107826413	43	33790											
GRIN3A	116443	broad.mit.edu	37	9	104433268	104433268	+	Missense_Mutation	SNP	G	G	T			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr9:104433268G>T	ENST00000361820.3	-	3	2026	c.1426C>A	c.(1426-1428)Cca>Aca	p.P476T		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	476					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	GTCCACATTGGCTTTCCCATG	0.507													26	321					1.77063e-15	1.99571e-15	1	1	0	T	104433268	G	T	104433268	3	4	409	1	0	0	0	0	1	0	0	0	6824	1203	42	5	1949	5	GRIN3A	9	104433268	Missense_Mutation	SNP	G	TCGA-S9-A6TS-01A-12D-A33T-08	71046250	104433268	36780163	44	33791											
HSPA14	51182	broad.mit.edu	37	10	14891775	14891775	+	Silent	SNP	G	G	A			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr10:14891775G>A	ENST00000378372.3	+	6	671	c.432G>A	c.(430-432)ccG>ccA	p.P144P		NM_016299.2	NP_057383.2	Q0VDF9	HSP7E_HUMAN	heat shock 70kDa protein 14	144					'de novo' cotranslational protein folding	cytosol	ATP binding|protein binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)	17						TTACTGTCCCGTTTGATTTTG	0.323													52	84					0	0	1	0	0	A	14891775	G	A	14891775	2	1	409	1	0	0	0	0	0	0	0	1	7450	1132	40	1		1	HSPA14	10	14891775	Silent	SNP	G	TCGA-S9-A6TS-01A-12D-A33T-08		14891775	120642972	45	33792											
FAM171A1	221061	broad.mit.edu	37	10	15254949	15254949	+	Missense_Mutation	SNP	C	C	G			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr10:15254949C>G	ENST00000378116.4	-	8	2644	c.2638G>C	c.(2638-2640)Gag>Cag	p.E880Q		NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN	family with sequence similarity 171, member A1	880						integral to membrane				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						GGCCTCTCCTCCCGTTTCTGC	0.507													19	244					0	0	1	0	0	G	15254949	C	G	15254949	3	3	409	1	0	0	0	0	1	0	0	0	5520	864	30	5	38	5	FAM171A1	10	15254949	Missense_Mutation	SNP	C	TCGA-S9-A6TS-01A-12D-A33T-08	363174	15254949	120279798	46	33793											
YME1L1	10730	broad.mit.edu	37	10	27410369	27410369	+	Missense_Mutation	SNP	G	G	C			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr10:27410369G>C	ENST00000326799.3	-	13	1563	c.1415C>G	c.(1414-1416)cCc>cGc	p.P472R	YME1L1_ENST00000375972.3_Missense_Mutation_p.P382R|YME1L1_ENST00000376016.3_Missense_Mutation_p.P415R	NM_139312.2	NP_647473.1	Q96TA2	YMEL1_HUMAN	YME1-like 1 ATPase	472					protein catabolic process|proteolysis	membrane|mitochondrion	ATP binding|metal ion binding|metalloendopeptidase activity|nucleoside-triphosphatase activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23						TCCTTCATTGGGTTTAAAACT	0.318													19	247					0	0	1	0	0	C	27410369	G	C	27410369	3	2	409	1	0	0	0	0	1	0	0	0	17547	1232	43	5	938	5	YME1L1	10	27410369	Missense_Mutation	SNP	G	TCGA-S9-A6TS-01A-12D-A33T-08	12155420	27410369	108124378	47	33794											
LRRC56	115399	broad.mit.edu	37	11	550110	550110	+	Missense_Mutation	SNP	C	C	A			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr11:550110C>A	ENST00000270115.7	+	8	962	c.462C>A	c.(460-462)agC>agA	p.S154R		NM_198075.3	NP_932341.1	Q8IYG6	LRC56_HUMAN	leucine rich repeat containing 56	154										kidney(1)|lung(4)|skin(1)	6		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CGGACCTGAGCCCACTGTGCC	0.677													13	116					3.27435e-08	3.48391e-08	1	1	0	A	550110	C	A	550110	3	1	409	1	0	0	0	0	1	0	0	0	9057	738	26	5	480	5	LRRC56	11	550110	Missense_Mutation	SNP	C	TCGA-S9-A6TS-01A-12D-A33T-08		550110	134456406	48	33795											
OR52E6	390078	broad.mit.edu	37	11	5862807	5862807	+	Missense_Mutation	SNP	A	A	C			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr11:5862807A>C	ENST00000329322.5	-	1	320	c.321T>G	c.(319-321)caT>caG	p.H107Q	OR52E6_ENST00000379946.2_Missense_Mutation_p.H111Q|TRIM5_ENST00000380027.1_Intron	NM_001005167.1	NP_001005167.1	Q96RD3	O52E6_HUMAN	olfactory receptor, family 52, subfamily E, member 6	107					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.55e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAGTGAAGAAATGGATGAAGA	0.463													31	344					0	0	1	0	0	C	5862807	A	C	5862807	3	2	409	1	0	0	0	0	1	0	0	0	11165	98	4	4	622	4	OR52E6	11	5862807	Missense_Mutation	SNP	A	TCGA-S9-A6TS-01A-12D-A33T-08	5312697	5862807	129143709	49	33796											
OR2AG2	338755	broad.mit.edu	37	11	6789589	6789589	+	Silent	SNP	G	G	A			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr11:6789589G>A	ENST00000338569.2	-	1	697	c.600C>T	c.(598-600)taC>taT	p.Y200Y		NM_001004490.1	NP_001004490.1	A6NM03	O2AG2_HUMAN	olfactory receptor, family 2, subfamily AG, member 2	200					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(13)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1)	28		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)		Epithelial(150;2.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		CACCTGTCACGTATATTATAA	0.493													7	52					0	0	1	0	0	A	6789589	G	A	6789589	2	1	409	1	0	0	0	0	0	0	0	1	11033	1140	40	1		1	OR2AG2	11	6789589	Silent	SNP	G	TCGA-S9-A6TS-01A-12D-A33T-08	926782	6789589	128216927	50	33797											
OR4C11	219429	broad.mit.edu	37	11	55371229	55371229	+	Silent	SNP	A	A	G			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr11:55371229A>G	ENST00000302231.4	-	1	645	c.621T>C	c.(619-621)agT>agC	p.S207S		NM_001004700.2	NP_001004700.2	Q6IEV9	OR4CB_HUMAN	olfactory receptor, family 4, subfamily C, member 11	207					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|prostate(1)|skin(1)	33						TCATGAAACTACTTGAGCAAA	0.423													93	25					0	0	1	0	0	G	55371229	A	G	55371229	2	3	409	1	0	0	0	0	0	0	0	1	11093	388	14	3		3	OR4C11	11	55371229	Silent	SNP	A	TCGA-S9-A6TS-01A-12D-A33T-08	48581640	55371229	79635287	51	33798											
OR4S2	219431	broad.mit.edu	37	11	55419188	55419188	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr11:55419188C>T	ENST00000312422.2	+	1	809	c.809C>T	c.(808-810)gCt>gTt	p.A270V		NM_001004059.2	NP_001004059.2	Q8NH73	OR4S2_HUMAN	olfactory receptor, family 4, subfamily S, member 2	270					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_epithelial(135;0.0748)				AAGATGGTGGCTGTATTTTAC	0.423													41	165					0	0	1	0	0	T	55419188	C	T	55419188	3	4	409	1	0	0	0	0	1	0	0	0	11131	797	28	2	811	2	OR4S2	11	55419188	Missense_Mutation	SNP	C	TCGA-S9-A6TS-01A-12D-A33T-08	47959	55419188	79587328	52	33799											
OR8K3	219473	broad.mit.edu	37	11	56085997	56085997	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr11:56085997G>A	ENST00000312711.1	+	1	215	c.215G>A	c.(214-216)gGt>gAt	p.G72D		NM_001005202.1	NP_001005202.1	Q8NH51	OR8K3_HUMAN	olfactory receptor, family 8, subfamily K, member 3	72					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|ovary(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	40	Esophageal squamous(21;0.00448)					ATGGATCTTGGTTATTCAACA	0.378													126	203					0	0	1	0	0	A	56085997	G	A	56085997	3	1	409	1	0	0	0	0	1	0	0	0	11291	1261	44	2	217	2	OR8K3	11	56085997	Missense_Mutation	SNP	G	TCGA-S9-A6TS-01A-12D-A33T-08	666809	56085997	78920519	53	33800											
C11orf80	79703	broad.mit.edu	37	11	66555677	66555677	+	Silent	SNP	T	T	G			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr11:66555677T>G	ENST00000360962.4	+	5	577	c.570T>G	c.(568-570)acT>acG	p.T190T	C11orf80_ENST00000527634.1_Intron|C11orf80_ENST00000532565.2_5'UTR|C11orf80_ENST00000527368.1_3'UTR|C11orf80_ENST00000346672.4_Silent_p.T35T|C11orf80_ENST00000525449.2_Silent_p.T35T|C11orf80_ENST00000540737.1_Silent_p.T24T	NM_024650.3	NP_078926.3	Q8N6T0	CK080_HUMAN	chromosome 11 open reading frame 80	35										autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	14						TGACTTGGACTTCAGAGGAAG	0.418													13	107					0	0	1	0	0	G	66555677	T	G	66555677	2	3	409	1	0	0	0	0	0	0	0	1	1669	1596	56	5		5	C11orf80	11	66555677	Silent	SNP	T	TCGA-S9-A6TS-01A-12D-A33T-08	10469680	66555677	68450839	54	33801											
NEU3	10825	broad.mit.edu	37	11	74716640	74716640	+	Nonsense_Mutation	SNP	C	C	G			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr11:74716640C>G	ENST00000294064.4	+	3	1416	c.489C>G	c.(487-489)taC>taG	p.Y163*	NEU3_ENST00000529024.1_Missense_Mutation_p.Q93E|NEU3_ENST00000544263.1_Nonsense_Mutation_p.Y130*|NEU3_ENST00000531509.1_Nonsense_Mutation_p.Y163*|NEU3_ENST00000545272.1_Nonsense_Mutation_p.Y54*|NEU3_ENST00000532963.1_Missense_Mutation_p.Q93E	NM_006656.5	NP_006647.3	A8K327	A8K327_HUMAN	sialidase 3 (membrane sialidase)	163										kidney(2)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	11						GCTTCATCTACAGTCAGGATG	0.547													63	108					0	0	1	0	0	G	74716640	C	G	74716640	4	3	409	1	0	0	0	0	0	1	0	0	10390	489	17	5	499	5	NEU3	11	74716640	Nonsense_Mutation	SNP	C	TCGA-S9-A6TS-01A-12D-A33T-08	8160963	74716640	60289876	55	33802											
THRSP	7069	broad.mit.edu	37	11	77775098	77775098	+	Silent	SNP	C	C	T			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr11:77775098C>T	ENST00000281030.2	+	1	192	c.171C>T	c.(169-171)taC>taT	p.Y57Y	NDUFC2-KCTD14_ENST00000528251.1_Intron|NDUFC2-KCTD14_ENST00000530054.1_Intron	NM_003251.3	NP_003242.1	Q92748	THRSP_HUMAN	thyroid hormone responsive	57					lipid biosynthetic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	7	all_cancers(14;2.23e-19)|all_epithelial(13;7.49e-22)|Breast(9;6.38e-17)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;2.15e-25)			CTGATCTCTACACCTACTTCA	0.632													6	196					0	0	1	0	0	T	77775098	C	T	77775098	2	4	409	1	0	0	0	0	0	0	0	1	15936	489	17	2		2	THRSP	11	77775098	Silent	SNP	C	TCGA-S9-A6TS-01A-12D-A33T-08	3058458	77775098	57231418	56	33803											
KCNJ5	3762	broad.mit.edu	37	11	128781870	128781870	+	Silent	SNP	C	C	A			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr11:128781870C>A	ENST00000529694.1	+	2	1078	c.702C>A	c.(700-702)atC>atA	p.I234I	KCNJ5_ENST00000533599.1_Silent_p.I234I|KCNJ5_ENST00000338350.4_Silent_p.I234I	NM_000890.3	NP_000881.3	P48544	IRK5_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 5	234					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			NS(1)|breast(1)|endometrium(4)|large_intestine(4)|liver(2)|lung(9)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_hematologic(175;0.0641)	Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215)	Glibenclamide(DB01016)	AGGCCTCCATCCGGGCCAAGC	0.607													6	164					0.00116845	0.00119541	1	1	0	A	128781870	C	A	128781870	2	1	409	1	0	0	0	0	0	0	0	1	8098	845	30	5		5	KCNJ5	11	128781870	Silent	SNP	C	TCGA-S9-A6TS-01A-12D-A33T-08	51006772	128781870	6224646	57	33804											
AAAS	8086	broad.mit.edu	37	12	53703027	53703027	+	Silent	SNP	G	G	C			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr12:53703027G>C	ENST00000209873.4	-	9	1014	c.849C>G	c.(847-849)ccC>ccG	p.P283P	AAAS_ENST00000394384.3_Silent_p.P250P|AAAS_ENST00000550286.1_Silent_p.P159P	NM_015665.5	NP_056480.1	Q9NRG9	AAAS_HUMAN	achalasia, adrenocortical insufficiency, alacrimia	283					carbohydrate metabolic process|glucose transport|nucleocytoplasmic transport|regulation of glucose transport|regulation of nucleocytoplasmic transport|transmembrane transport|viral reproduction	nuclear pore				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	20						CTCGGAACCAGGGAAGGGGGA	0.572													13	170					0	0	1	0	0	C	53703027	G	C	53703027	2	2	409	1	0	0	0	0	0	0	0	1	8	987	35	4		4	AAAS	12	53703027	Silent	SNP	G	TCGA-S9-A6TS-01A-12D-A33T-08		53703027	80148868	58	33805											
MYBPC1	4604	broad.mit.edu	37	12	102056150	102056150	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr12:102056150A>G	ENST00000549145.1	+	20	2111	c.2011A>G	c.(2011-2013)Agg>Ggg	p.R671G	MYBPC1_ENST00000547509.1_Missense_Mutation_p.R644G|MYBPC1_ENST00000452455.2_Missense_Mutation_p.R658G|MYBPC1_ENST00000550270.1_Missense_Mutation_p.R658G|MYBPC1_ENST00000545503.2_Missense_Mutation_p.R658G|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000536007.1_Missense_Mutation_p.R639G|MYBPC1_ENST00000541119.1_Missense_Mutation_p.R646G|MYBPC1_ENST00000551300.1_Missense_Mutation_p.R559G|MYBPC1_ENST00000441232.1_Missense_Mutation_p.R658G|MYBPC1_ENST00000361685.2_Missense_Mutation_p.R683G|MYBPC1_ENST00000547405.1_Missense_Mutation_p.R632G|MYBPC1_ENST00000361466.2_Missense_Mutation_p.R683G|MYBPC1_ENST00000360610.2_Missense_Mutation_p.R658G|MYBPC1_ENST00000553190.1_Missense_Mutation_p.R658G|MYBPC1_ENST00000392934.3_Missense_Mutation_p.R645G			Q00872	MYPC1_HUMAN	myosin binding protein C, slow type	658	Fibronectin type-III 1.				cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						TTTTATTGAGAGGAAGAAGAA	0.363													12	77					0	0	1	0	0	G	102056150	A	G	102056150	3	3	409	1	0	0	0	0	1	0	0	0	10059	295	11	3	2129	3	MYBPC1	12	102056150	Missense_Mutation	SNP	A	TCGA-S9-A6TS-01A-12D-A33T-08	48353123	102056150	31795745	59	33806											
ACACB	32	broad.mit.edu	37	12	109610081	109610081	+	Splice_Site	SNP	C	C	T			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr12:109610081C>T	ENST00000338432.7	+	6	1156	c.1037C>T	c.(1036-1038)gCg>gTg	p.A346V	ACACB_ENST00000377848.3_Splice_Site_p.A346V|ACACB_ENST00000377854.5_Splice_Site_p.A346V			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	346	Biotin carboxylation.				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	TGTTTGCAGGCGGTGTGGGCT	0.532													188	351					0	0	1	0	0	T	109610081	C	T	109610081	5	4	409	1	0	0	0	0	0	0	1	0	107	782	27	1	1055	1	ACACB	12	109610081	Splice_Site	SNP	C	TCGA-S9-A6TS-01A-12D-A33T-08	7553931	109610081	24241814	60	33807											
HVCN1	84329	broad.mit.edu	37	12	111099001	111099001	+	Silent	SNP	A	A	G			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr12:111099001A>G	ENST00000356742.5	-	3	1027	c.274T>C	c.(274-276)Ttg>Ctg	p.L92L	HVCN1_ENST00000242607.8_Silent_p.L92L|HVCN1_ENST00000548312.1_Silent_p.L92L|HVCN1_ENST00000439744.2_Silent_p.L72L			Q96D96	HVCN1_HUMAN	hydrogen voltage-gated channel 1	92					response to pH|response to zinc ion	integral to membrane	voltage-gated proton channel activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	19						AGTTTCCTCAACATGCCCCTG	0.652													46	99					0	0	1	0	0	G	111099001	A	G	111099001	2	3	409	1	0	0	0	0	0	0	0	1	7506	40	2	3		3	HVCN1	12	111099001	Silent	SNP	A	TCGA-S9-A6TS-01A-12D-A33T-08	1488920	111099001	22752894	61	33808											
DNAH10	196385	broad.mit.edu	37	12	124325908	124325908	+	Missense_Mutation	SNP	G	G	T			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr12:124325908G>T	ENST00000409039.3	+	29	4847	c.4822G>T	c.(4822-4824)Gat>Tat	p.D1608Y		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1608	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TAATGACGGCGATAGTGGAGA	0.517													124	212					6.58568e-60	7.8205e-60	1	1	0	T	124325908	G	T	124325908	3	4	409	1	0	0	0	0	1	0	0	0	4626	1058	37	5	4936	5	DNAH10	12	124325908	Missense_Mutation	SNP	G	TCGA-S9-A6TS-01A-12D-A33T-08	13226907	124325908	9525987	62	33809											
RXFP2	122042	broad.mit.edu	37	13	32352678	32352678	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr13:32352678T>C	ENST00000298386.2	+	9	814	c.743T>C	c.(742-744)cTt>cCt	p.L248P	RXFP2_ENST00000380314.1_Missense_Mutation_p.L248P	NM_130806.3	NP_570718.1	Q8WXD0	RXFP2_HUMAN	relaxin/insulin-like family peptide receptor 2	248						integral to membrane|plasma membrane				cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1)	33		Lung SC(185;0.0262)		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)		TTAGAAGCTCTTCCCAAGCAG	0.318													5	238					0	0	1	0	0	C	32352678	T	C	32352678	3	2	409	1	0	0	0	0	1	0	0	0	13812	1609	56	3	777	3	RXFP2	13	32352678	Missense_Mutation	SNP	T	TCGA-S9-A6TS-01A-12D-A33T-08		32352678	82817200	63	33810											
LMO7	4008	broad.mit.edu	37	13	76379755	76379755	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr13:76379755G>A	ENST00000357063.3	+	10	2471	c.1211G>A	c.(1210-1212)cGc>cAc	p.R404H	RP11-29G8.3_ENST00000563635.1_RNA|LMO7_ENST00000526202.1_Intron|LMO7_ENST00000321797.8_Missense_Mutation_p.R119H|LMO7_ENST00000465261.2_Missense_Mutation_p.R119H|LMO7_ENST00000377534.3_Missense_Mutation_p.R404H|LMO7_ENST00000341547.4_Intron			Q8WWI1	LMO7_HUMAN	LIM domain 7	404						cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		CTTTATGTGCGCAAGCTCAGT	0.413													5	406					0	0	1	0	0	A	76379755	G	A	76379755	3	1	409	1	0	0	0	0	1	0	0	0	8896	1087	38	1	1249	1	LMO7	13	76379755	Missense_Mutation	SNP	G	TCGA-S9-A6TS-01A-12D-A33T-08	44027077	76379755	38790123	64	33811											
RNASE3	6037	broad.mit.edu	37	14	21360166	21360166	+	Missense_Mutation	SNP	A	A	T			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr14:21360166A>T	ENST00000304639.3	+	2	379	c.321A>T	c.(319-321)ttA>ttT	p.L107F		NM_002935.2	NP_002926.2	P12724	ECP_HUMAN	ribonuclease, RNase A family, 3	107					defense response to bacterium|RNA catabolic process	extracellular region|soluble fraction	nucleic acid binding|pancreatic ribonuclease activity			endometrium(1)|large_intestine(1)|lung(6)|ovary(1)	9	all_cancers(95;0.00453)		OV - Ovarian serous cystadenocarcinoma(11;6.3e-09)|Epithelial(56;1.42e-07)|all cancers(55;5.48e-07)	GBM - Glioblastoma multiforme(265;0.0187)	Pranlukast(DB01411)	GGGTGCCTTTACTCCACTGTG	0.428													6	152					0	0	1	0	0	T	21360166	A	T	21360166	3	4	409	1	0	0	0	0	1	0	0	0	13457	388	14	5	323	5	RNASE3	14	21360166	Missense_Mutation	SNP	A	TCGA-S9-A6TS-01A-12D-A33T-08		21360166	85989374	65	33812											
ATP8B4	79895	broad.mit.edu	37	15	50168650	50168650	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr15:50168650T>C	ENST00000284509.6	-	25	2993	c.2852A>G	c.(2851-2853)aAc>aGc	p.N951S	ATP8B4_ENST00000559829.1_Missense_Mutation_p.N951S	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	951					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		TTTACGCTTGTTAAAAAGCAG	0.443													4	92					0	0	1	0	0	C	50168650	T	C	50168650	3	2	409	1	0	0	0	0	1	0	0	0	1195	1725	60	3	742	3	ATP8B4	15	50168650	Missense_Mutation	SNP	T	TCGA-S9-A6TS-01A-12D-A33T-08		50168650	52362742	66	33813											
TNFAIP8L3	388121	broad.mit.edu	37	15	51350344	51350344	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr15:51350344T>C	ENST00000327536.5	-	3	712	c.613A>G	c.(613-615)Atg>Gtg	p.M205V	RP11-108K3.1_ENST00000559909.1_lincRNA	NM_207381.2	NP_997264.2	Q5GJ75	TP8L3_HUMAN	tumor necrosis factor, alpha-induced protein 8-like 3	205										endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	11				all cancers(107;0.000389)|GBM - Glioblastoma multiforme(94;0.00338)		ACAATGGTCATGGCGGTCTGG	0.512													39	134					0	0	1	0	0	C	51350344	T	C	51350344	3	2	409	1	0	0	0	0	1	0	0	0	16339	1464	51	3	269	3	TNFAIP8L3	15	51350344	Missense_Mutation	SNP	T	TCGA-S9-A6TS-01A-12D-A33T-08	1181694	51350344	51181048	67	33814											
COMMD4	54939	broad.mit.edu	37	15	75630990	75630990	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr15:75630990G>A	ENST00000267935.8	+	4	344	c.145G>A	c.(145-147)Gag>Aag	p.E49K	COMMD4_ENST00000564815.1_Missense_Mutation_p.E27K|COMMD4_ENST00000562789.1_Missense_Mutation_p.E55K|COMMD4_ENST00000338995.6_Missense_Mutation_p.E49K|COMMD4_ENST00000567195.1_Missense_Mutation_p.E49K	NM_017828.3	NP_060298.2	Q9H0A8	COMD4_HUMAN	COMM domain containing 4	49						cytoplasm	protein binding			breast(3)|endometrium(2)|kidney(2)|large_intestine(1)|lung(1)|prostate(1)	10						CCCATAGTATGAGAAGATCCT	0.597													3	31					0	0	1	0	0	A	75630990	G	A	75630990	3	1	409	1	0	0	0	0	1	0	0	0	3741	1291	45	2	159	2	COMMD4	15	75630990	Missense_Mutation	SNP	G	TCGA-S9-A6TS-01A-12D-A33T-08	24280646	75630990	26900402	68	33815			1	43		2	2	15	G		4.658007e-05
COMMD4	54939	broad.mit.edu	37	15	75631004	75631004	+	Silent	SNP	G	G	A			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr15:75631004G>A	ENST00000267935.8	+	4	358	c.159G>A	c.(157-159)aaG>aaA	p.K53K	COMMD4_ENST00000564815.1_Silent_p.K31K|COMMD4_ENST00000562789.1_Silent_p.K59K|COMMD4_ENST00000338995.6_Silent_p.K53K|COMMD4_ENST00000567195.1_Silent_p.K53K	NM_017828.3	NP_060298.2	Q9H0A8	COMD4_HUMAN	COMM domain containing 4	53						cytoplasm	protein binding			breast(3)|endometrium(2)|kidney(2)|large_intestine(1)|lung(1)|prostate(1)	10						AGATCCTGAAGCTCACGGCTG	0.612													3	31					0	0	1	0	0	A	75631004	G	A	75631004	2	1	409	1	0	0	0	0	0	0	0	1	3741	962	34	2		2	COMMD4	15	75631004	Silent	SNP	G	TCGA-S9-A6TS-01A-12D-A33T-08	14	75631004	26900388	69	33816			1	43		2	2	15	G		4.658007e-05
ZP2	7783	broad.mit.edu	37	16	21209105	21209105	+	Nonsense_Mutation	SNP	C	C	A			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr16:21209105C>A	ENST00000574002.1	-	19	2559	c.2077G>T	c.(2077-2079)Gag>Tag	p.E693*	ZP2_ENST00000219593.4_Nonsense_Mutation_p.E693*|AF001550.7_ENST00000572747.1_RNA|ZP2_ENST00000574091.1_Nonsense_Mutation_p.E684*			Q05996	ZP2_HUMAN	zona pellucida glycoprotein 2 (sperm receptor)	693					binding of sperm to zona pellucida|intracellular protein transport	endoplasmic reticulum|Golgi apparatus|integral to membrane|multivesicular body|plasma membrane|proteinaceous extracellular matrix|stored secretory granule	acrosin binding|coreceptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(16)|ovary(1)|prostate(1)|stomach(1)	41				GBM - Glioblastoma multiforme(48;0.0573)		CCAACCTCCTCCCCTGTTTCA	0.468													65	123					1.59245e-42	1.85786e-42	1	1	0	A	21209105	C	A	21209105	4	1	409	1	0	0	0	0	0	1	0	0	18258	864	30	5	168	5	ZP2	16	21209105	Nonsense_Mutation	SNP	C	TCGA-S9-A6TS-01A-12D-A33T-08		21209105	69145648	70	33817											
IL21R	50615	broad.mit.edu	37	16	27459933	27459933	+	Missense_Mutation	SNP	G	G	T			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr16:27459933G>T	ENST00000337929.3	+	9	1419	c.946G>T	c.(946-948)Gtg>Ttg	p.V316L	IL21R-AS1_ENST00000563191.1_RNA|IL21R_ENST00000564583.1_3'UTR|IL21R_ENST00000395755.1_Missense_Mutation_p.V316L|IL21R_ENST00000564089.1_Missense_Mutation_p.V316L|IL21R_ENST00000395754.4_Missense_Mutation_p.V316L	NM_181078.2	NP_851564.1	Q9HBE5	IL21R_HUMAN	interleukin 21 receptor	316					natural killer cell activation	integral to membrane	interleukin-21 receptor activity			breast(2)|large_intestine(3)|lung(1)|ovary(2)	8						CACCCTGGAGGTGTACAGCTG	0.627			T	BCL6	NHL								13	89					9.31168e-06	9.67542e-06	1	1	0	T	27459933	G	T	27459933	3	4	409	1	0	0	0	0	1	0	0	0	7715	1261	44	5	976	5	IL21R	16	27459933	Missense_Mutation	SNP	G	TCGA-S9-A6TS-01A-12D-A33T-08	6250828	27459933	62894820	71	33818											
SIAH1	6477	broad.mit.edu	37	16	48396115	48396115	+	Nonsense_Mutation	SNP	G	G	T			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr16:48396115G>T	ENST00000380006.2	-	1	1678	c.225C>A	c.(223-225)tgC>tgA	p.C75*	SIAH1_ENST00000394725.2_Nonsense_Mutation_p.C75*|SIAH1_ENST00000356721.3_Nonsense_Mutation_p.C106*			Q8IUQ4	SIAH1_HUMAN	siah E3 ubiquitin protein ligase 1	75					axon guidance|cell cycle|neuron apoptosis|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|spermatogenesis	beta-catenin destruction complex|cytosol|nucleus	protein C-terminus binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|stomach(1)	7		all_cancers(37;0.157)|all_lung(18;0.11)|Breast(268;0.238)				AAGGGCCCCGGCAAGTTGGAC	0.468													49	77					6.08268e-21	6.9145e-21	1	1	0	T	48396115	G	T	48396115	4	4	409	1	0	0	0	0	0	1	0	0	14354	1195	42	5	627	5	SIAH1	16	48396115	Nonsense_Mutation	SNP	G	TCGA-S9-A6TS-01A-12D-A33T-08	20936182	48396115	41958638	72	33819											
TP53	7157	broad.mit.edu	37	17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	rs121913343		TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr17:7577121G>A	ENST00000420246.2	-	8	949	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000269305.4_Missense_Mutation_p.R273C|TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	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).		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.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			31	9					0	0	1	0	0	A	7577121	G	A	7577121	3	1	409	1	0	0	0	0	1	0	0	0	16442	1087	38	1	469	1	TP53	17	7577121	Missense_Mutation	SNP	G	TCGA-S9-A6TS-01A-12D-A33T-08		7577121	73618089	73	33820											
MYH4	4622	broad.mit.edu	37	17	10359013	10359013	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr17:10359013T>C	ENST00000255381.2	-	19	2202	c.2092A>G	c.(2092-2094)Agg>Ggg	p.R698G	RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	698	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						CCGTTACACCTCAGCTGATGC	0.488													4	135					0	0	1	0	0	C	10359013	T	C	10359013	3	2	409	1	0	0	0	0	1	0	0	0	10085	1550	54	3	3815	3	MYH4	17	10359013	Missense_Mutation	SNP	T	TCGA-S9-A6TS-01A-12D-A33T-08	2781892	10359013	70836197	74	33821											
TRAF4	9618	broad.mit.edu	37	17	27074931	27074931	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr17:27074931G>A	ENST00000262395.5	+	3	395	c.266G>A	c.(265-267)gGc>gAc	p.G89D	TRAF4_ENST00000444415.3_Missense_Mutation_p.G89D|TRAF4_ENST00000262396.6_Missense_Mutation_p.G89D	NM_004295.3	NP_004286.2	Q9BUZ4	TRAF4_HUMAN	TNF receptor-associated factor 4	89					apoptosis|positive regulation of JNK cascade|positive regulation of protein homodimerization activity|positive regulation of protein kinase activity|regulation of apoptosis|signal transduction	cytoskeleton|nucleus|perinuclear region of cytoplasm|tight junction	DNA binding|ubiquitin-protein ligase activity|WW domain binding|zinc ion binding			endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	10	Lung NSC(42;0.01)		Epithelial(11;3.26e-05)|all cancers(11;0.000272)|OV - Ovarian serous cystadenocarcinoma(11;0.235)			AGTGAGGAGGGCTGCCGCTGG	0.612													28	25					0	0	1	0	0	A	27074931	G	A	27074931	3	1	409	1	0	0	0	0	1	0	0	0	16504	1203	42	2	276	2	TRAF4	17	27074931	Missense_Mutation	SNP	G	TCGA-S9-A6TS-01A-12D-A33T-08	16715918	27074931	54120279	75	33822											
ERAL1	26284	broad.mit.edu	37	17	27186225	27186225	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr17:27186225C>T	ENST00000254928.5	+	9	1212	c.1115C>T	c.(1114-1116)aCa>aTa	p.T372I		NM_005702.2	NP_005693.1	O75616	ERAL1_HUMAN	Era-like 12S mitochondrial rRNA chaperone 1	372	KH type-2.				ribosomal small subunit assembly	mitochondrial inner membrane|mitochondrial matrix	GTP binding|ribosomal small subunit binding|rRNA binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(2)	11	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		Epithelial(11;1.12e-05)|all cancers(11;5.32e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000272)|OV - Ovarian serous cystadenocarcinoma(11;0.105)			GTACAGAAGACAGCAGTGTGG	0.507													59	86					0	0	1	0	0	T	27186225	C	T	27186225	3	4	409	1	0	0	0	0	1	0	0	0	5230	478	17	2	1149	2	ERAL1	17	27186225	Missense_Mutation	SNP	C	TCGA-S9-A6TS-01A-12D-A33T-08	111294	27186225	54008985	76	33823											
HNF1B	6928	broad.mit.edu	37	17	36070536	36070536	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr17:36070536T>C	ENST00000225893.4	-	5	1542	c.1181A>G	c.(1180-1182)aAt>aGt	p.N394S	HNF1B_ENST00000427275.2_Missense_Mutation_p.N368S|HNF1B_ENST00000560016.1_Missense_Mutation_p.N394S|HNF1B_ENST00000561193.1_Missense_Mutation_p.N368S	NM_000458.2|NM_001165923.1	NP_000449.1|NP_001159395.1	P35680	HNF1B_HUMAN	HNF1 homeobox B	394					endocrine pancreas development|genitalia development|kidney development|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric nephron tubule development|regulation of pronephros size	nucleus	DNA binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.S388fs*4(1)		breast(2)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(3)|large_intestine(2)|liver(1)|lung(3)|ovary(3)|prostate(1)|skin(2)	28		Breast(25;0.00765)|Ovarian(249;0.15)	STAD - Stomach adenocarcinoma(1;0.0142)			TGAGAGGAGATTGTGGCCTGG	0.522													14	202					0	0	1	0	0	C	36070536	T	C	36070536	3	2	409	1	0	0	0	0	1	0	0	0	7293	1493	52	3	512	3	HNF1B	17	36070536	Missense_Mutation	SNP	T	TCGA-S9-A6TS-01A-12D-A33T-08	8884311	36070536	45124674	77	33824											
TTLL6	284076	broad.mit.edu	37	17	46846534	46846534	+	Silent	SNP	G	G	T			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr17:46846534G>T	ENST00000393382.3	-	15	2634	c.2493C>A	c.(2491-2493)ctC>ctA	p.L831L	TTLL6_ENST00000433608.2_Silent_p.L524L	NM_001130918.1	NP_001124390.1	Q8N841	TTLL6_HUMAN	tubulin tyrosine ligase-like family, member 6	783						cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity			endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						GACTCTGCAAGAGGAGGGAGG	0.572													8	95					0.00448238	0.00455081	1	1	0	T	46846534	G	T	46846534	2	4	409	1	0	0	0	0	0	0	0	1	16793	929	33	4		4	TTLL6	17	46846534	Silent	SNP	G	TCGA-S9-A6TS-01A-12D-A33T-08	10775998	46846534	34348676	78	33825											
KIF2B	84643	broad.mit.edu	37	17	51901793	51901793	+	Missense_Mutation	SNP	G	G	C			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr17:51901793G>C	ENST00000268919.4	+	1	1555	c.1399G>C	c.(1399-1401)Gaa>Caa	p.E467Q		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	467	Kinesin-motor.				blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity	p.E467*(1)		NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						AAGGCAGCTGGAAGGGGCAGA	0.493													6	87					0	0	1	0	0	C	51901793	G	C	51901793	3	2	409	1	0	0	0	0	1	0	0	0	8340	1175	41	5	1401	5	KIF2B	17	51901793	Missense_Mutation	SNP	G	TCGA-S9-A6TS-01A-12D-A33T-08	5055259	51901793	29293417	79	33826											
JMJD6	23210	broad.mit.edu	37	17	74722545	74722545	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr17:74722545T>C	ENST00000445478.2	-	1	216	c.13A>G	c.(13-15)Agc>Ggc	p.S5G	JMJD6_ENST00000585429.1_Missense_Mutation_p.S5G|JMJD6_ENST00000397625.4_Missense_Mutation_p.S5G	NM_001081461.1	NP_001074930.1	Q6NYC1	JMJD6_HUMAN	jumonji domain containing 6	5					mRNA processing|peptidyl-lysine hydroxylation to 5-hydroxy-L-lysine|regulation of nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|RNA splicing|sprouting angiogenesis|transcription, DNA-dependent	nucleolus|nucleoplasm	histone demethylase activity (H3-R2 specific)|histone demethylase activity (H4-R3 specific)|identical protein binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptidyl-lysine 5-dioxygenase activity|single-stranded RNA binding			endometrium(2)|kidney(5)|large_intestine(2)|lung(3)|ovary(2)|skin(2)	16						CGCTTCTTGCTCTTGTGGTTC	0.667													36	47					0	0	1	0	0	C	74722545	T	C	74722545	3	2	409	1	0	0	0	0	1	0	0	0	7997	1551	54	3	1263	3	JMJD6	17	74722545	Missense_Mutation	SNP	T	TCGA-S9-A6TS-01A-12D-A33T-08	22820752	74722545	6472665	80	33827											
C3	718	broad.mit.edu	37	19	6702526	6702526	+	Missense_Mutation	SNP	G	G	T			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr19:6702526G>T	ENST00000245907.6	-	18	2402	c.2310C>A	c.(2308-2310)agC>agA	p.S770R		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	770					complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		TCCACAGCCAGCTCTCTGGGA	0.517													79	93					1.55521e-42	1.83047e-42	1	1	0	T	6702526	G	T	6702526	3	4	409	1	0	0	0	0	1	0	0	0	2218	962	34	4	2777	4	C3	19	6702526	Missense_Mutation	SNP	G	TCGA-S9-A6TS-01A-12D-A33T-08		6702526	52426457	81	33828											
MUC16	94025	broad.mit.edu	37	19	9072192	9072192	+	Missense_Mutation	SNP	G	G	T			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr19:9072192G>T	ENST00000397910.4	-	3	15457	c.15254C>A	c.(15253-15255)aCa>aAa	p.T5085K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5087	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TTCCAAGCGTGTACGTAATAT	0.433													4	220					2.56e-06	2.68094e-06	1	1	0	T	9072192	G	T	9072192	3	4	409	1	0	0	0	0	1	0	0	0	10021	1377	48	5	28597	5	MUC16	19	9072192	Missense_Mutation	SNP	G	TCGA-S9-A6TS-01A-12D-A33T-08	2369666	9072192	50056791	82	33829											
NWD1	284434	broad.mit.edu	37	19	16908642	16908642	+	Frame_Shift_Del	DEL	T	T	-			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr19:16908642delT	ENST00000524140.2	+	16	3822	c.3404delT	c.(3403-3405)gttfs	p.V1135fs	NWD1_ENST00000339803.6_Frame_Shift_Del_p.V1000fs|NWD1_ENST00000552788.1_Frame_Shift_Del_p.V1135fs|NWD1_ENST00000549814.1_Frame_Shift_Del_p.V1135fs|NWD1_ENST00000523826.1_Frame_Shift_Del_p.V929fs|NWD1_ENST00000379808.3_Frame_Shift_Del_p.V1135fs	NM_001007525.3	NP_001007526.3	Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	1135							ATP binding			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						GAGACGGCTGTTTTTGGTACT	0.552													7	636	---	---	---	---						-	16908642	T	-	16908642	7	5	409	1	0	1	0	1	0	0	0	0	10829	1725	60	0	3045	0	NWD1	19	16908642	Frame_Shift_Del	DEL	T	TCGA-S9-A6TS-01A-12D-A33T-08	7836450	16908642	42220341	83	33830											
ZNF99	7652	broad.mit.edu	37	19	22940995	22940995	+	Missense_Mutation	SNP	T	T	A			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr19:22940995T>A	ENST00000397104.3	-	5	1442	c.1443A>T	c.(1441-1443)aaA>aaT	p.K481N	ZNF99_ENST00000596209.1_Missense_Mutation_p.K572N					zinc finger protein 99											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				GCTTAAAAGCTTTGCCACATT	0.358													12	99					0	0	1	0	0	A	22940995	T	A	22940995	3	1	409	1	0	0	0	0	1	0	0	0	18246	1606	56	5	1681	5	ZNF99	19	22940995	Missense_Mutation	SNP	T	TCGA-S9-A6TS-01A-12D-A33T-08	6032353	22940995	36187988	84	33831											
PLEKHG2	64857	broad.mit.edu	37	19	39909586	39909586	+	Missense_Mutation	SNP	G	G	C			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr19:39909586G>C	ENST00000425673.1	+	11	1531	c.1206G>C	c.(1204-1206)tgG>tgC	p.W402C	PLEKHG2_ENST00000409797.2_Missense_Mutation_p.W402C|PLEKHG2_ENST00000378550.1_Missense_Mutation_p.W402C|PLEKHG2_ENST00000458508.2_Missense_Mutation_p.W343C|PLEKHG2_ENST00000409794.3_Missense_Mutation_p.W402C			Q9H7P9	PKHG2_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 2	402	PH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			AGAGGCTGTGGATTCACTGTC	0.617													32	224					0	0	1	0	0	C	39909586	G	C	39909586	3	2	409	1	0	0	0	0	1	0	0	0	12117	1183	41	5	1244	5	PLEKHG2	19	39909586	Missense_Mutation	SNP	G	TCGA-S9-A6TS-01A-12D-A33T-08	16968591	39909586	19219397	85	33832											
CEACAM4	1089	broad.mit.edu	37	19	42132119	42132119	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr19:42132119C>T	ENST00000221954.2	-	2	390	c.280G>A	c.(280-282)Gca>Aca	p.A94T	CEACAM4_ENST00000600925.1_Missense_Mutation_p.A94T	NM_001817.2	NP_001808.2	O75871	CEAM4_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 4	94	Ig-like V-type.					integral to plasma membrane|membrane fraction		p.A94T(1)		NS(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(3)|skin(3)|urinary_tract(1)	16						CCACTGTATGCGGCCCCTGGG	0.488													6	366					0	0	1	0	0	T	42132119	C	T	42132119	3	4	409	1	0	0	0	0	1	0	0	0	3216	768	27	1	478	1	CEACAM4	19	42132119	Missense_Mutation	SNP	C	TCGA-S9-A6TS-01A-12D-A33T-08	2222533	42132119	16996864	86	33833											
CEACAM5	1048	broad.mit.edu	37	19	42213889	42213889	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr19:42213889T>C	ENST00000221992.6	+	2	469	c.355T>C	c.(355-357)Ttc>Ctc	p.F119L	CEA_ENST00000598976.1_Missense_Mutation_p.F119L|CEACAM5_ENST00000398599.4_Missense_Mutation_p.F119L|CEACAM5_ENST00000405816.1_Missense_Mutation_p.F119L	NM_004363.2	NP_004354.2	P06731	CEAM5_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 5	119	Ig-like 1.					anchored to membrane|basolateral plasma membrane|integral to plasma membrane				breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		TGACACAGGATTCTACACCCT	0.493													5	535					0	0	1	0	0	C	42213889	T	C	42213889	3	2	409	1	0	0	0	0	1	0	0	0	3217	1493	52	3	361	3	CEACAM5	19	42213889	Missense_Mutation	SNP	T	TCGA-S9-A6TS-01A-12D-A33T-08	81770	42213889	16915094	87	33834											
SULF2	55959	broad.mit.edu	37	20	46291958	46291958	+	Splice_Site	SNP	T	T	C			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr20:46291958T>C	ENST00000359930.4	-	17	3079		c.e17-2		SULF2_ENST00000361612.4_Splice_Site|SULF2_ENST00000484875.1_Splice_Site|SULF2_ENST00000467815.1_Splice_Site	NM_018837.3	NP_061325.1	Q8IWU5	SULF2_HUMAN	sulfatase 2						bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						AAGGCCCCACTGCCAAGGAAG	0.527											OREG0026005	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	68					0	0	1	0	0	C	46291958	T	C	46291958	5	2	409	1	0	0	0	0	0	0	1	0	15427	1594	55	3	406	3	SULF2	20	46291958	Splice_Site	SNP	T	TCGA-S9-A6TS-01A-12D-A33T-08		46291958	16733562	88	33835											
APP	351	broad.mit.edu	37	21	27462309	27462309	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr21:27462309C>T	ENST00000358918.3	-	3	504	c.305G>A	c.(304-306)cGc>cAc	p.R102H	APP_ENST00000346798.3_Missense_Mutation_p.R102H|APP_ENST00000448388.2_Missense_Mutation_p.R67H|APP_ENST00000354192.3_Missense_Mutation_p.R46H|APP_ENST00000359726.3_Missense_Mutation_p.R102H|APP_ENST00000357903.3_Missense_Mutation_p.R102H|APP_ENST00000474136.1_5'UTR|APP_ENST00000440126.3_Missense_Mutation_p.R97H|APP_ENST00000439274.2_Missense_Mutation_p.R46H|APP_ENST00000348990.5_Missense_Mutation_p.R102H	NM_001204301.1|NM_001204302.1	NP_001191230.1|NP_001191231.1	P05067	A4_HUMAN	amyloid beta (A4) precursor protein	102	Heparin-binding.				adult locomotory behavior|axon cargo transport|axon midline choice point recognition|cell adhesion|cellular copper ion homeostasis|collateral sprouting in absence of injury|dendrite development|endocytosis|extracellular matrix organization|G2 phase of mitotic cell cycle|innate immune response|ionotropic glutamate receptor signaling pathway|mating behavior|mRNA polyadenylation|neuron apoptosis|neuron remodeling|Notch signaling pathway|platelet activation|platelet degranulation|positive regulation of mitotic cell cycle|protein phosphorylation|regulation of epidermal growth factor receptor activity|regulation of multicellular organism growth|regulation of synapse structure and activity|regulation of translation|visual learning	axon|cell surface|coated pit|dendritic shaft|dendritic spine|extracellular region|Golgi apparatus|integral to plasma membrane|platelet alpha granule lumen	acetylcholine receptor binding|DNA binding|heparin binding|identical protein binding|metal ion binding|protein binding|PTB domain binding|serine-type endopeptidase inhibitor activity			endometrium(5)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(209;0.00295)				GCACTGCTTGCGGCCCCGCTT	0.582													4	155					0	0	1	0	0	T	27462309	C	T	27462309	3	4	409	1	0	0	0	0	1	0	0	0	812	768	27	1	2071	1	APP	21	27462309	Missense_Mutation	SNP	C	TCGA-S9-A6TS-01A-12D-A33T-08		27462309	20667586	89	33836											
SYNJ1	8867	broad.mit.edu	37	21	34053878	34053878	+	Silent	SNP	T	T	A			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr21:34053878T>A	ENST00000382499.2	-	11	1397	c.1398A>T	c.(1396-1398)tcA>tcT	p.S466S	SYNJ1_ENST00000433931.2_Silent_p.S466S|SYNJ1_ENST00000322229.7_Silent_p.S427S|SYNJ1_ENST00000382491.3_Silent_p.S427S|SYNJ1_ENST00000357345.3_Silent_p.S427S	NM_203446.2	NP_982271.2	O43426	SYNJ1_HUMAN	synaptojanin 1	427							inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						CGGACCACATTGACCGAAAAA	0.393													9	264					0	0	1	0	0	A	34053878	T	A	34053878	2	1	409	1	0	0	0	0	0	0	0	1	15509	1799	63	5		5	SYNJ1	21	34053878	Silent	SNP	T	TCGA-S9-A6TS-01A-12D-A33T-08	6591569	34053878	14076017	90	33837											
RUNX1	861	broad.mit.edu	37	21	36164874	36164874	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr21:36164874C>T	ENST00000344691.4	-	6	2497	c.920G>A	c.(919-921)cGc>cAc	p.R307H	RUNX1_ENST00000325074.5_Missense_Mutation_p.R322H|RUNX1_ENST00000399240.1_Missense_Mutation_p.R243H|RUNX1_ENST00000300305.3_Missense_Mutation_p.R334H|RUNX1_ENST00000437180.1_Missense_Mutation_p.R334H	NM_001001890.2	NP_001001890.1	Q01196	RUNX1_HUMAN	runt-related transcription factor 1	307	Interaction with MYST3.|Interaction with MYST4 (By similarity).|Pro/Ser/Thr-rich.				myeloid cell differentiation|negative regulation of granulocyte differentiation|positive regulation of angiogenesis|positive regulation of granulocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|calcium ion binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding			breast(5)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(428)|large_intestine(3)|lung(6)|oesophagus(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	452						GGGGAACTGGCGCGGGTCGCT	0.687			T	"RPL22, MDS1, EVI1, CBFA2T3, CBFA2T1, ETV6, LAF4"	"AML, preB- ALL, T-ALL"								14	14					0	0	1	0	0	T	36164874	C	T	36164874	3	4	409	1	0	0	0	0	1	0	0	0	13798	768	27	1	445	1	RUNX1	21	36164874	Missense_Mutation	SNP	C	TCGA-S9-A6TS-01A-12D-A33T-08	2110996	36164874	11965021	91	33838											
SSX7	280658	broad.mit.edu	37	X	52681398	52681398	+	Splice_Site	SNP	C	C	G			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chrX:52681398C>G	ENST00000298181.5	-	4	343		c.e4-1			NM_173358.2	NP_775494.1	Q7RTT5	SSX7_HUMAN	synovial sarcoma, X breakpoint 7						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|skin(1)	16	Ovarian(276;0.236)					GCCTTGAAGCCTAGAAAGAAG	0.483													21	143					0	0	1	0	0	G	52681398	C	G	52681398	5	3	409	1	0	0	0	0	0	0	1	0	15265	695	24	4	398	4	SSX7	23	52681398	Splice_Site	SNP	C	TCGA-S9-A6TS-01A-12D-A33T-08		52681398	102589162	92	33839											
GNL3L	54552	broad.mit.edu	37	X	54581027	54581027	+	Silent	SNP	T	T	C			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chrX:54581027T>C	ENST00000336470.4	+	14	1487	c.1348T>C	c.(1348-1350)Ttg>Ctg	p.L450L	GNL3L_ENST00000360845.2_Silent_p.L450L	NM_019067.5	NP_061940.1	Q9NVN8	GNL3L_HUMAN	guanine nucleotide binding protein-like 3 (nucleolar)-like	450					ribosome biogenesis	nucleolus	GTP binding			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	30						TGATGAGCTGTTGGGTGACAC	0.522													4	102					0	0	1	0	0	C	54581027	T	C	54581027	2	2	409	1	0	0	0	0	0	0	0	1	6580	1722	60	3		3	GNL3L	23	54581027	Silent	SNP	T	TCGA-S9-A6TS-01A-12D-A33T-08	1899629	54581027	100689533	93	33840											
AR	367	broad.mit.edu	37	X	66931475	66931475	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chrX:66931475A>G	ENST00000374690.3	+	4	2641	c.2117A>G	c.(2116-2118)aAt>aGt	p.N706S	AR_ENST00000396044.3_Missense_Mutation_p.N706S|AR_ENST00000396043.2_Missense_Mutation_p.N174S	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN	androgen receptor	705	Interaction with MYST2.|Ligand-binding.				cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport	cytoplasm|nuclear chromatin|nucleoplasm	androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624)	TCTAGCCTCAATGAACTGGGA	0.522									Androgen Insensitivity Syndrome				8	61					0	0	1	0	0	G	66931475	A	G	66931475	3	3	409	1	0	0	0	0	1	0	0	0	833	101	4	3	2155	3	AR	23	66931475	Missense_Mutation	SNP	A	TCGA-S9-A6TS-01A-12D-A33T-08	12350448	66931475	88339085	94	33841											
ATRX	546	broad.mit.edu	37	X	76812938	76812938	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chrX:76812938G>A	ENST00000373344.5	-	30	6897	c.6683C>T	c.(6682-6684)aCt>aTt	p.T2228I	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.T2190I	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	2228					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)	CAGCATGGGAGTATCCCTCTT	0.348			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						144	207					0	0	1	0	0	A	76812938	G	A	76812938	3	1	409	1	0	0	0	0	1	0	0	0	1206	1029	36	2	819	2	ATRX	23	76812938	Missense_Mutation	SNP	G	TCGA-S9-A6TS-01A-12D-A33T-08	9881463	76812938	78457622	95	33842											
ATP7A	538	broad.mit.edu	37	X	77254082	77254082	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chrX:77254082G>A	ENST00000341514.6	+	5	1599	c.1444G>A	c.(1444-1446)Gag>Aag	p.E482K	ATP7A_ENST00000350425.4_Intron|ATP7A_ENST00000343533.5_Missense_Mutation_p.E482K	NM_000052.5	NP_000043.4	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	482					ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53						TCAAGACAAGGAGGAAGGAAA	0.428													14	370					0	0	1	0	0	A	77254082	G	A	77254082	3	1	409	1	0	0	0	0	1	0	0	0	1188	1175	41	2	1458	2	ATP7A	23	77254082	Missense_Mutation	SNP	G	TCGA-S9-A6TS-01A-12D-A33T-08	441144	77254082	78016478	96	33843											
RGAG1	57529	broad.mit.edu	37	X	109694101	109694101	+	Missense_Mutation	SNP	G	G	C			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chrX:109694101G>C	ENST00000465301.2	+	3	502	c.256G>C	c.(256-258)Gca>Cca	p.A86P	RGAG1_ENST00000540313.1_Missense_Mutation_p.A86P	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	86										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						AAACTCTGGAGCATTGTCCCC	0.542											OREG0019909	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	28	483					0	0	1	0	0	C	109694101	G	C	109694101	3	2	409	1	0	0	0	0	1	0	0	0	13326	971	34	4	258	4	RGAG1	23	109694101	Missense_Mutation	SNP	G	TCGA-S9-A6TS-01A-12D-A33T-08	32440019	109694101	45576459	97	33844											
TRPC5	7224	broad.mit.edu	37	X	111097327	111097327	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chrX:111097327G>A	ENST00000262839.2	-	4	1826	c.908C>T	c.(907-909)gCt>gTt	p.A303V		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	303					axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						GTTGGGCTGAGCAACAAACTG	0.488													3	37					0	0	1	0	0	A	111097327	G	A	111097327	3	1	409	1	0	0	0	0	1	0	0	0	16643	971	34	2	2045	2	TRPC5	23	111097327	Missense_Mutation	SNP	G	TCGA-S9-A6TS-01A-12D-A33T-08	1403226	111097327	44173233	98	33845											
LHFPL1	340596	broad.mit.edu	37	X	111914414	111914414	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chrX:111914414G>A	ENST00000371968.3	-	2	444	c.205C>T	c.(205-207)Cgc>Tgc	p.R69C	LHFPL1_ENST00000478229.1_Intron|LHFPL1_ENST00000536453.1_Missense_Mutation_p.R69C	NM_178175.3	NP_835469.1	Q86WI0	LHPL1_HUMAN	lipoma HMGIC fusion partner-like 1	69						integral to membrane				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)	13						CTGGCATAGCGCCCACATTCT	0.592													94	122					0	0	1	0	0	A	111914414	G	A	111914414	3	1	409	1	0	0	0	0	1	0	0	0	8804	1087	38	1	469	1	LHFPL1	23	111914414	Missense_Mutation	SNP	G	TCGA-S9-A6TS-01A-12D-A33T-08	817087	111914414	43356146	99	33846											
SLC25A14	9016	broad.mit.edu	37	X	129480618	129480618	+	Silent	SNP	G	G	A			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chrX:129480618G>A	ENST00000543953.1	+	3	214	c.165G>A	c.(163-165)gcG>gcA	p.A55A	SLC25A14_ENST00000339231.3_Silent_p.A87A|SLC25A14_ENST00000545805.1_Silent_p.A90A|SLC25A14_ENST00000361980.5_Silent_p.A87A|SLC25A14_ENST00000218197.5_Silent_p.A90A|SLC25A14_ENST00000467496.1_3'UTR			O95258	UCP5_HUMAN	solute carrier family 25 (mitochondrial carrier, brain), member 14	90			E -> A (in dbSNP:rs2143598).		aerobic respiration|mitochondrial transport	integral to plasma membrane|mitochondrial inner membrane	binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)	22						TGTTCCATGCGCTGTTTCGCA	0.423													30	286					0	0	1	0	0	A	129480618	G	A	129480618	2	1	409	1	0	0	0	0	0	0	0	1	14531	1074	38	1		1	SLC25A14	23	129480618	Silent	SNP	G	TCGA-S9-A6TS-01A-12D-A33T-08	17566204	129480618	25789942	100	33847											
RAP2C	57826	broad.mit.edu	37	X	131351247	131351247	+	Missense_Mutation	SNP	G	G	T			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chrX:131351247G>T	ENST00000342983.2	-	2	796	c.50C>A	c.(49-51)tCt>tAt	p.S17Y	RAP2C-AS1_ENST00000421483.2_RNA|RAP2C_ENST00000370874.1_Missense_Mutation_p.S17Y|RAP2C_ENST00000460462.1_Intron	NM_001271187.1|NM_021183.4	NP_001258116.1|NP_067006.3	Q9Y3L5	RAP2C_HUMAN	RAP2C, member of RAS oncogene family	17					negative regulation of cell migration|positive regulation of protein autophosphorylation|Rap protein signal transduction|regulation of protein tyrosine kinase activity	recycling endosome membrane	GTP binding|GTPase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|ovary(1)|upper_aerodigestive_tract(2)	8	Acute lymphoblastic leukemia(192;0.000127)					AGTAAGGGCAGATTTGCCAAC	0.507													7	523					5.4927e-09	5.98795e-09	1	1	0	T	131351247	G	T	131351247	3	4	409	1	0	0	0	0	1	0	0	0	13094	942	33	4	509	4	RAP2C	23	131351247	Missense_Mutation	SNP	G	TCGA-S9-A6TS-01A-12D-A33T-08	1870629	131351247	23919313	101	33848											
AFF2	2334	broad.mit.edu	37	X	148048608	148048608	+	Splice_Site	SNP	T	T	C			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chrX:148048608T>C	ENST00000370460.2	+	14	3681	c.3202T>C	c.(3202-3204)Tcg>Ccg	p.S1068P	AFF2_ENST00000286437.5_Splice_Site_p.S709P|AFF2_ENST00000342251.3_Splice_Site_p.S1035P|AFF2_ENST00000370457.5_Splice_Site_p.S1033P	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	1068					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					TTTTGATGACTCGTATGTTGT	0.517													7	230					0	0	1	0	0	C	148048608	T	C	148048608	5	2	409	1	0	0	0	0	0	0	1	0	356	1565	54	3	3311	3	AFF2	23	148048608	Splice_Site	SNP	T	TCGA-S9-A6TS-01A-12D-A33T-08	16697361	148048608	7221952	102	33849											
MTM1	4534	broad.mit.edu	37	X	149828189	149828189	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chrX:149828189T>C	ENST00000370396.2	+	12	1367	c.1313T>C	c.(1312-1314)tTt>tCt	p.F438S	MTM1_ENST00000413012.2_Missense_Mutation_p.F401S|MTM1_ENST00000543350.1_Missense_Mutation_p.F323S|MTM1_ENST00000542741.1_Missense_Mutation_p.F343S|MTM1_ENST00000306167.7_3'UTR	NM_000252.2	NP_000243.1	Q13496	MTM1_HUMAN	myotubularin 1	438	Myotubularin phosphatase.				endosome to lysosome transport|intermediate filament organization|mitochondrion distribution|mitochondrion morphogenesis|phosphatidylinositol dephosphorylation|protein transport|regulation of vacuole organization	filopodium|late endosome|plasma membrane|ruffle	intermediate filament binding|phosphatidylinositol binding|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Acute lymphoblastic leukemia(192;6.56e-05)					TCTCCTATTTTTCTCCAGTTT	0.313													9	127					0	0	1	0	0	C	149828189	T	C	149828189	3	2	409	1	0	0	0	0	1	0	0	0	9985	1841	64	3	1355	3	MTM1	23	149828189	Missense_Mutation	SNP	T	TCGA-S9-A6TS-01A-12D-A33T-08	1779581	149828189	5442371	103	33850											
GAB3	139716	broad.mit.edu	37	X	153940503	153940503	+	Splice_Site	SNP	C	C	A			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chrX:153940503C>A	ENST00000369575.3	-	4	1098		c.e4+1		GAB3_ENST00000424127.2_Splice_Site|GAB3_ENST00000496390.1_Intron	NM_001081573.1|NM_080612.2	NP_001075042.1|NP_542179.1	Q8WWW8	GAB3_HUMAN	GRB2-associated binding protein 3											NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)	25	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					CCAACACTTACCTTTCCAGGT	0.507													6	202					2.7689e-08	2.99401e-08	1	1	0	A	153940503	C	A	153940503	5	1	409	1	0	0	0	0	0	0	1	0	6185	521	18	5	721	5	GAB3	23	153940503	Splice_Site	SNP	C	TCGA-S9-A6TS-01A-12D-A33T-08	4112314	153940503	1330057	104	33851											
PADI3	51702	broad.mit.edu	37	1	17594365	17594365	+	Missense_Mutation	SNP	C	C	T	rs146396025		TCGA-S9-A6TU-01A-12D-A32B-08	TCGA-S9-A6TU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d474edd0-517b-42c3-bc4a-25ed1a5ab460	1cf5eb20-7436-43b2-99c7-321917c0c0b6	g.chr1:17594365C>T	ENST00000375460.3	+	6	600	c.560C>T	c.(559-561)aCg>aTg	p.T187M		NM_016233.2	NP_057317.2	Q9ULW8	PADI3_HUMAN	peptidyl arginine deiminase, type III	187					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	GTCCTGCGGACGCAGGGCCCT	0.577													23	37					0	0	1	0	0	T	17594365	C	T	17594365	3	4	410	1	0	0	0	0	1	0	0	0	11426	536	19	1	582	1	PADI3	1	17594365	Missense_Mutation	SNP	C	TCGA-S9-A6TU-01A-12D-A32B-08		17594365	231656256	1	33852											
MAEL	84944	broad.mit.edu	37	1	166987180	166987180	+	Missense_Mutation	SNP	A	A	T			TCGA-S9-A6TU-01A-12D-A32B-08	TCGA-S9-A6TU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d474edd0-517b-42c3-bc4a-25ed1a5ab460	1cf5eb20-7436-43b2-99c7-321917c0c0b6	g.chr1:166987180A>T	ENST00000367872.4	+	10	1269	c.1025A>T	c.(1024-1026)gAt>gTt	p.D342V	MAEL_ENST00000367870.2_Missense_Mutation_p.D311V|MAEL_ENST00000491055.1_3'UTR	NM_032858.1	NP_116247.1	Q96JY0	MAEL_HUMAN	maelstrom spermatogenic transposon silencer	342					cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|multicellular organismal development|piRNA metabolic process|spermatogenesis	piP-body	DNA binding			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(12)|skin(4)	28						GTTGTATTGGATGCAGGGCGT	0.458													7	67					0	0	1	0	0	T	166987180	A	T	166987180	3	4	410	1	0	0	0	0	1	0	0	0	9200	333	12	4	1063	4	MAEL	1	166987180	Missense_Mutation	SNP	A	TCGA-S9-A6TU-01A-12D-A32B-08	149392815	166987180	82263441	2	33853											
OR11L1	391189	broad.mit.edu	37	1	248004293	248004293	+	Silent	SNP	T	T	C			TCGA-S9-A6TU-01A-12D-A32B-08	TCGA-S9-A6TU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d474edd0-517b-42c3-bc4a-25ed1a5ab460	1cf5eb20-7436-43b2-99c7-321917c0c0b6	g.chr1:248004293T>C	ENST00000355784.2	-	1	961	c.906A>G	c.(904-906)agA>agG	p.R302R		NM_001001959.1	NP_001001959.1	Q8NGX0	O11L1_HUMAN	olfactory receptor, family 11, subfamily L, member 1	302					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			TCATGACCTTTCTAACAGCTT	0.373													25	48					0	0	1	0	0	C	248004293	T	C	248004293	2	2	410	1	0	0	0	0	0	0	0	1	10978	1780	62	3		3	OR11L1	1	248004293	Silent	SNP	T	TCGA-S9-A6TU-01A-12D-A32B-08	81017113	248004293	1246328	3	33854											
MFSD2B	388931	broad.mit.edu	37	2	24240178	24240178	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6TU-01A-12D-A32B-08	TCGA-S9-A6TU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d474edd0-517b-42c3-bc4a-25ed1a5ab460	1cf5eb20-7436-43b2-99c7-321917c0c0b6	g.chr2:24240178C>T	ENST00000338315.4	+	5	494	c.494C>T	c.(493-495)gCg>gTg	p.A165V	MFSD2B_ENST00000406420.3_Missense_Mutation_p.A165V			A6NFX1	MFS2B_HUMAN	major facilitator superfamily domain containing 2B	165					transport	integral to membrane				cervix(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	10						CCCTACACAGCGCTCACCATG	0.667													2	2					0	0	1	0	0	T	24240178	C	T	24240178	3	4	410	1	0	0	0	0	1	0	0	0	9581	768	27	1	512	1	MFSD2B	2	24240178	Missense_Mutation	SNP	C	TCGA-S9-A6TU-01A-12D-A32B-08		24240178	218959195	4	33855											
LRP1B	53353	broad.mit.edu	37	2	141986794	141986794	+	Silent	SNP	A	A	G			TCGA-S9-A6TU-01A-12D-A32B-08	TCGA-S9-A6TU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d474edd0-517b-42c3-bc4a-25ed1a5ab460	1cf5eb20-7436-43b2-99c7-321917c0c0b6	g.chr2:141986794A>G	ENST00000389484.3	-	6	1779	c.808T>C	c.(808-810)Tta>Cta	p.L270L		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	270					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TCATCTGTTAATCCTCCTGCT	0.313										TSP Lung(27;0.18)			5	81					0	0	1	0	0	G	141986794	A	G	141986794	2	3	410	1	0	0	0	0	0	0	0	1	9000	98	4	3		3	LRP1B	2	141986794	Silent	SNP	A	TCGA-S9-A6TU-01A-12D-A32B-08	117746616	141986794	101212579	5	33856											
TTN	7273	broad.mit.edu	37	2	179466815	179466815	+	Nonsense_Mutation	SNP	G	G	A			TCGA-S9-A6TU-01A-12D-A32B-08	TCGA-S9-A6TU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d474edd0-517b-42c3-bc4a-25ed1a5ab460	1cf5eb20-7436-43b2-99c7-321917c0c0b6	g.chr2:179466815G>A	ENST00000589042.1	-	284	55407	c.55183C>T	c.(55183-55185)Cag>Tag	p.Q18395*	TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000591111.1_Nonsense_Mutation_p.Q16754*|TTN_ENST00000460472.2_Nonsense_Mutation_p.Q9330*|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Nonsense_Mutation_p.Q9522*|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.Q15827*|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Nonsense_Mutation_p.Q9455*|TTN-AS1_ENST00000586452.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	16754	Fibronectin type-III 33.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATCCTAATCTGTGAGCCAGCT	0.413													10	72					0	0	1	0	0	A	179466815	G	A	179466815	4	1	410	1	0	0	0	0	0	1	0	0	16797	1386	48	2	52826	2	TTN	2	179466815	Nonsense_Mutation	SNP	G	TCGA-S9-A6TU-01A-12D-A32B-08	37480021	179466815	63732558	6	33857											
ITGA4	3676	broad.mit.edu	37	2	182359504	182359504	+	Nonsense_Mutation	SNP	C	C	G			TCGA-S9-A6TU-01A-12D-A32B-08	TCGA-S9-A6TU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d474edd0-517b-42c3-bc4a-25ed1a5ab460	1cf5eb20-7436-43b2-99c7-321917c0c0b6	g.chr2:182359504C>G	ENST00000397033.2	+	12	1734	c.1304C>G	c.(1303-1305)tCa>tGa	p.S435*		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	435					blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	CAGTCTATATCAGGACAAATT	0.308													4	129					0	0	1	0	0	G	182359504	C	G	182359504	4	3	410	1	0	0	0	0	0	1	0	0	7922	838	29	5	1350	5	ITGA4	2	182359504	Nonsense_Mutation	SNP	C	TCGA-S9-A6TU-01A-12D-A32B-08	2892689	182359504	60839869	7	33858											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-S9-A6TU-01A-12D-A32B-08	TCGA-S9-A6TU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d474edd0-517b-42c3-bc4a-25ed1a5ab460	1cf5eb20-7436-43b2-99c7-321917c0c0b6	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	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								19	42					0	0	1	0	0	T	209113112	C	T	209113112	3	4	410	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-S9-A6TU-01A-12D-A32B-08	26753608	209113112	34086261	8	33859											
AFF4	27125	broad.mit.edu	37	5	132270106	132270106	+	Missense_Mutation	SNP	A	A	C			TCGA-S9-A6TU-01A-12D-A32B-08	TCGA-S9-A6TU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d474edd0-517b-42c3-bc4a-25ed1a5ab460	1cf5eb20-7436-43b2-99c7-321917c0c0b6	g.chr5:132270106A>C	ENST00000265343.5	-	3	1030	c.651T>G	c.(649-651)gaT>gaG	p.D217E	AFF4_ENST00000491831.1_5'UTR|AFF4_ENST00000378595.3_Missense_Mutation_p.D217E	NM_014423.3	NP_055238.1	Q9UHB7	AFF4_HUMAN	AF4/FMR2 family, member 4	217	Ser-rich.				transcription from RNA polymerase II promoter	mitochondrion|nucleolus	protein binding|sequence-specific DNA binding transcription factor activity		SEPT8/AFF4(2)	breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(7)|lung(11)|ovary(3)|pancreas(1)|prostate(3)|skin(2)	43		all_cancers(142;0.145)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CCCAGTTTGCATCAGGGTCCC	0.463													4	80					0	0	1	0	0	C	132270106	A	C	132270106	3	2	410	1	0	0	0	0	1	0	0	0	358	214	8	4	2916	4	AFF4	5	132270106	Missense_Mutation	SNP	A	TCGA-S9-A6TU-01A-12D-A32B-08		132270106	48645154	9	33860											
SLC25A27	9481	broad.mit.edu	37	6	46637948	46637948	+	Silent	SNP	C	C	A			TCGA-S9-A6TU-01A-12D-A32B-08	TCGA-S9-A6TU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d474edd0-517b-42c3-bc4a-25ed1a5ab460	1cf5eb20-7436-43b2-99c7-321917c0c0b6	g.chr6:46637948C>A	ENST00000371347.5	+	7	1033	c.781C>A	c.(781-783)Cga>Aga	p.R261R	SLC25A27_ENST00000411689.2_Intron|SLC25A27_ENST00000452689.2_Silent_p.R175R	NM_001204051.1|NM_004277.4	NP_001190980.1|NP_004268.3	O95847	UCP4_HUMAN	solute carrier family 25, member 27	261					generation of precursor metabolites and energy|transport	integral to membrane|mitochondrial inner membrane				central_nervous_system(1)|kidney(1)|lung(4)|prostate(1)|urinary_tract(1)	8			Lung(136;0.192)			GAATCAACCACGAGATAAACA	0.328													3	30					1	1	1	1	0	A	46637948	C	A	46637948	2	1	410	1	0	0	0	0	0	0	0	1	14545	528	19	5		5	SLC25A27	6	46637948	Silent	SNP	C	TCGA-S9-A6TU-01A-12D-A32B-08		46637948	124477119	10	33861											
UBN2	254048	broad.mit.edu	37	7	138946218	138946218	+	Missense_Mutation	SNP	A	A	T			TCGA-S9-A6TU-01A-12D-A32B-08	TCGA-S9-A6TU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d474edd0-517b-42c3-bc4a-25ed1a5ab460	1cf5eb20-7436-43b2-99c7-321917c0c0b6	g.chr7:138946218A>T	ENST00000473989.3	+	6	1126	c.1126A>T	c.(1126-1128)Agc>Tgc	p.S376C	UBN2_ENST00000288561.8_Missense_Mutation_p.S293C	NM_173569.3	NP_775840.3	Q6ZU65	UBN2_HUMAN	ubinuclein 2											NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						AAATCTGAGCAGCGGTGATCC	0.478													42	49					0	0	1	0	0	T	138946218	A	T	138946218	3	4	410	1	0	0	0	0	1	0	0	0	16954	188	7	5	1148	5	UBN2	7	138946218	Missense_Mutation	SNP	A	TCGA-S9-A6TU-01A-12D-A32B-08		138946218	20192445	11	33862											
PDIA4	9601	broad.mit.edu	37	7	148701035	148701035	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6TU-01A-12D-A32B-08	TCGA-S9-A6TU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d474edd0-517b-42c3-bc4a-25ed1a5ab460	1cf5eb20-7436-43b2-99c7-321917c0c0b6	g.chr7:148701035C>T	ENST00000286091.4	-	10	2021	c.1789G>A	c.(1789-1791)Gtg>Atg	p.V597M		NM_004911.4	NP_004902.1	P13667	PDIA4_HUMAN	protein disulfide isomerase family A, member 4	597	Thioredoxin 3.				cell redox homeostasis|glycerol ether metabolic process|protein secretion	endoplasmic reticulum lumen|melanosome	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			large_intestine(6)|lung(15)|ovary(2)|prostate(1)	24	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00385)			AAGCCCTCCACCTTATAGCGG	0.552													14	31					0	0	1	0	0	T	148701035	C	T	148701035	3	4	410	1	0	0	0	0	1	0	0	0	11717	507	18	2	152	2	PDIA4	7	148701035	Missense_Mutation	SNP	C	TCGA-S9-A6TU-01A-12D-A32B-08	9754817	148701035	10437628	12	33863											
GDF6	392255	broad.mit.edu	37	8	97157052	97157052	+	Silent	SNP	G	G	A			TCGA-S9-A6TU-01A-12D-A32B-08	TCGA-S9-A6TU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d474edd0-517b-42c3-bc4a-25ed1a5ab460	1cf5eb20-7436-43b2-99c7-321917c0c0b6	g.chr8:97157052G>A	ENST00000287020.5	-	2	1206	c.1107C>T	c.(1105-1107)gaC>gaT	p.D369D		NM_001001557.2	NP_001001557.1	Q6KF10	GDF6_HUMAN	growth differentiation factor 6	369					activin receptor signaling pathway|BMP signaling pathway|growth|pathway-restricted SMAD protein phosphorylation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			breast(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	27	Breast(36;2.67e-05)					TAATCCAGTCGTCCCAGCCCA	0.637													7	17					0	0	1	0	0	A	97157052	G	A	97157052	2	1	410	1	0	0	0	0	0	0	0	1	6359	1136	40	1		1	GDF6	8	97157052	Silent	SNP	G	TCGA-S9-A6TU-01A-12D-A32B-08		97157052	49206970	13	33864											
PARD3	56288	broad.mit.edu	37	10	34558691	34558691	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A6TU-01A-12D-A32B-08	TCGA-S9-A6TU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d474edd0-517b-42c3-bc4a-25ed1a5ab460	1cf5eb20-7436-43b2-99c7-321917c0c0b6	g.chr10:34558691T>C	ENST00000374789.3	-	22	3647	c.3322A>G	c.(3322-3324)Atg>Gtg	p.M1108V	PARD3_ENST00000374790.3_Missense_Mutation_p.M1048V|PARD3_ENST00000374794.3_Missense_Mutation_p.M996V|PARD3_ENST00000545693.1_Missense_Mutation_p.M1092V|PARD3_ENST00000374788.3_Missense_Mutation_p.M1105V|PARD3_ENST00000545260.1_Missense_Mutation_p.M1018V|PARD3_ENST00000350537.4_Missense_Mutation_p.M1062V|PARD3_ENST00000346874.4_Missense_Mutation_p.M1071V	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	1108					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly	cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				TTGAGAGCCATGGAACCTTCA	0.473													11	32					0	0	1	0	0	C	34558691	T	C	34558691	3	2	410	1	0	0	0	0	1	0	0	0	11490	1464	51	3	764	3	PARD3	10	34558691	Missense_Mutation	SNP	T	TCGA-S9-A6TU-01A-12D-A32B-08		34558691	100976056	14	33865											
COMMD9	29099	broad.mit.edu	37	11	36302379	36302379	+	Silent	SNP	C	C	T			TCGA-S9-A6TU-01A-12D-A32B-08	TCGA-S9-A6TU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d474edd0-517b-42c3-bc4a-25ed1a5ab460	1cf5eb20-7436-43b2-99c7-321917c0c0b6	g.chr11:36302379C>T	ENST00000263401.5	-	2	76	c.60G>A	c.(58-60)tcG>tcA	p.S20S	COMMD9_ENST00000532705.1_Silent_p.S20S|COMMD9_ENST00000452374.2_Intron	NM_014186.3	NP_054905.2	Q9P000	COMD9_HUMAN	COMM domain containing 9	20										kidney(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	5	all_lung(20;0.211)	all_hematologic(20;0.107)				CAACATCTTTCGAGGAGGCCT	0.383													19	20					0	0	1	0	0	T	36302379	C	T	36302379	2	4	410	1	0	0	0	0	0	0	0	1	3746	871	31	1		1	COMMD9	11	36302379	Silent	SNP	C	TCGA-S9-A6TU-01A-12D-A32B-08		36302379	98704137	15	33866											
STAT2	6773	broad.mit.edu	37	12	56743287	56743287	+	Missense_Mutation	SNP	G	G	C			TCGA-S9-A6TU-01A-12D-A32B-08	TCGA-S9-A6TU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d474edd0-517b-42c3-bc4a-25ed1a5ab460	1cf5eb20-7436-43b2-99c7-321917c0c0b6	g.chr12:56743287G>C	ENST00000314128.4	-	15	1287	c.1264C>G	c.(1264-1266)Cta>Gta	p.L422V	STAT2_ENST00000418572.2_Missense_Mutation_p.L418V|STAT2_ENST00000556539.1_5'UTR|STAT2_ENST00000557235.1_Missense_Mutation_p.L418V			P52630	STAT2_HUMAN	signal transducer and activator of transcription 2, 113kDa	422					interspecies interaction between organisms|JAK-STAT cascade|regulation of transcription from RNA polymerase II promoter|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	cytosol|nucleoplasm|plasma membrane	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			NS(1)|endometrium(2)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|skin(3)	31						GTCACACCTAGTGGCCCCTGG	0.527													7	159					0	0	1	0	0	C	56743287	G	C	56743287	3	2	410	1	0	0	0	0	1	0	0	0	15321	1020	36	4	1331	4	STAT2	12	56743287	Missense_Mutation	SNP	G	TCGA-S9-A6TU-01A-12D-A32B-08		56743287	77108608	16	33867											
MOAP1	64112	broad.mit.edu	37	14	93650096	93650096	+	Missense_Mutation	SNP	C	C	G			TCGA-S9-A6TU-01A-12D-A32B-08	TCGA-S9-A6TU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d474edd0-517b-42c3-bc4a-25ed1a5ab460	1cf5eb20-7436-43b2-99c7-321917c0c0b6	g.chr14:93650096C>G	ENST00000556883.1	-	2	976	c.492G>C	c.(490-492)aaG>aaC	p.K164N	MOAP1_ENST00000298894.4_Missense_Mutation_p.K164N			Q96BY2	MOAP1_HUMAN	modulator of apoptosis 1	164					activation of caspase activity|apoptotic nuclear change	cytoplasm	protein homodimerization activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)	13		all_cancers(154;0.00528)|Acute lymphoblastic leukemia(33;0.0497)|all_epithelial(191;0.125)|all_neural(303;0.13)		Epithelial(152;0.178)|all cancers(159;0.2)|COAD - Colon adenocarcinoma(157;0.204)		acactctcagctttttatact	0.517													27	67					0	0	1	0	0	G	93650096	C	G	93650096	3	3	410	1	0	0	0	0	1	0	0	0	9729	796	28	4	567	4	MOAP1	14	93650096	Missense_Mutation	SNP	C	TCGA-S9-A6TU-01A-12D-A32B-08		93650096	13699444	17	33868											
BCL11B	64919	broad.mit.edu	37	14	99641152	99641152	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6TU-01A-12D-A32B-08	TCGA-S9-A6TU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d474edd0-517b-42c3-bc4a-25ed1a5ab460	1cf5eb20-7436-43b2-99c7-321917c0c0b6	g.chr14:99641152G>A	ENST00000345514.2	-	3	2074	c.1808C>T	c.(1807-1809)gCg>gTg	p.A603V	BCL11B_ENST00000357195.3_Missense_Mutation_p.A674V|BCL11B_ENST00000443726.2_Missense_Mutation_p.A480V	NM_001282238.1|NM_022898.1	NP_001269167.1|NP_075049.1	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B (zinc finger protein)	674	Gly-rich.					nucleus	zinc ion binding			NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		GGGCAGCGGCGCGGGCTTGCG	0.776			T	TLX3	T-ALL								11	8					0	0	1	0	0	A	99641152	G	A	99641152	3	1	410	1	0	0	0	0	1	0	0	0	1362	1087	38	1	667	1	BCL11B	14	99641152	Missense_Mutation	SNP	G	TCGA-S9-A6TU-01A-12D-A32B-08	5991056	99641152	7708388	18	33869											
CDC42BPB	9578	broad.mit.edu	37	14	103465909	103465909	+	Missense_Mutation	SNP	C	C	T	rs147856179	by1000genomes	TCGA-S9-A6TU-01A-12D-A32B-08	TCGA-S9-A6TU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d474edd0-517b-42c3-bc4a-25ed1a5ab460	1cf5eb20-7436-43b2-99c7-321917c0c0b6	g.chr14:103465909C>T	ENST00000361246.2	-	5	877	c.589G>A	c.(589-591)Gtg>Atg	p.V197M		NM_006035.3	NP_006026.3	Q9Y5S2	MRCKB_HUMAN	CDC42 binding protein kinase beta (DMPK-like)	197	Protein kinase.				actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		TACCTGTGCACGTAATGAAGC	0.463													44	60					0	0	1	0	0	T	103465909	C	T	103465909	3	4	410	1	0	0	0	0	1	0	0	0	3095	536	19	1	4678	1	CDC42BPB	14	103465909	Missense_Mutation	SNP	C	TCGA-S9-A6TU-01A-12D-A32B-08	3824757	103465909	3883631	19	33870											
SCNN1B	6338	broad.mit.edu	37	16	23383131	23383131	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6TU-01A-12D-A32B-08	TCGA-S9-A6TU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d474edd0-517b-42c3-bc4a-25ed1a5ab460	1cf5eb20-7436-43b2-99c7-321917c0c0b6	g.chr16:23383131C>T	ENST00000343070.2	+	7	1255	c.1079C>T	c.(1078-1080)cCg>cTg	p.P360L	SCNN1B_ENST00000307331.5_Missense_Mutation_p.P405L|SCNN1B_ENST00000568085.1_Intron|SCNN1B_ENST00000568923.1_Missense_Mutation_p.P333L	NM_000336.2	NP_000327.2	P51168	SCNNB_HUMAN	sodium channel, non-voltage-gated 1, beta subunit	360					excretion|sensory perception of taste	apical plasma membrane	ligand-gated sodium channel activity|WW domain binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(48;0.0465)	Amiloride(DB00594)|Triamterene(DB00384)	CCCTACAGCCCGTGCACCGTG	0.587													34	85					0	0	1	0	0	T	23383131	C	T	23383131	3	4	410	1	0	0	0	0	1	0	0	0	13982	652	23	1	1101	1	SCNN1B	16	23383131	Missense_Mutation	SNP	C	TCGA-S9-A6TU-01A-12D-A32B-08		23383131	66971622	20	33871											
SRCAP	10847	broad.mit.edu	37	16	30735046	30735046	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6TU-01A-12D-A32B-08	TCGA-S9-A6TU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d474edd0-517b-42c3-bc4a-25ed1a5ab460	1cf5eb20-7436-43b2-99c7-321917c0c0b6	g.chr16:30735046C>T	ENST00000262518.4	+	25	4686	c.4301C>T	c.(4300-4302)cCa>cTa	p.P1434L	SRCAP_ENST00000344771.4_Missense_Mutation_p.P1276L|SRCAP_ENST00000395059.2_Missense_Mutation_p.P1372L	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	1434	Pro-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			GTCTCAGTTCCATTGTCATCT	0.582													5	197					0	0	1	0	0	T	30735046	C	T	30735046	3	4	410	1	0	0	0	0	1	0	0	0	15191	594	21	2	4391	2	SRCAP	16	30735046	Missense_Mutation	SNP	C	TCGA-S9-A6TU-01A-12D-A32B-08	7351915	30735046	59619707	21	33872											
TP53	7157	broad.mit.edu	37	17	7578190	7578190	+	Missense_Mutation	SNP	T	T	C	rs121912666		TCGA-S9-A6TU-01A-12D-A32B-08	TCGA-S9-A6TU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d474edd0-517b-42c3-bc4a-25ed1a5ab460	1cf5eb20-7436-43b2-99c7-321917c0c0b6	g.chr17:7578190T>C	ENST00000420246.2	-	6	791	c.659A>G	c.(658-660)tAt>tGt	p.Y220C	TP53_ENST00000574684.1_Intron|TP53_ENST00000269305.4_Missense_Mutation_p.Y220C|TP53_ENST00000455263.2_Missense_Mutation_p.Y220C|TP53_ENST00000413465.2_Missense_Mutation_p.Y220C|TP53_ENST00000359597.4_Missense_Mutation_p.Y220C|TP53_ENST00000445888.2_Missense_Mutation_p.Y220C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	220	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 a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.Y220C(278)|p.Y127C(24)|p.Y220S(12)|p.?(11)|p.0?(8)|p.D208fs*1(1)|p.Y220_P223delYEPP(1)|p.V218_E224delVPYEPPE(1)|p.V218_E221delVPYE(1)|p.Y127S(1)|p.V218_Y220delVPY(1)|p.Y220fs*25(1)|p.V216_Y220delVVVPY(1)|p.Y220fs*2(1)|p.V218fs*26(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)		AGGCGGCTCATAGGGCACCAC	0.557		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			28	10					0	0	1	0	0	C	7578190	T	C	7578190	3	2	410	1	0	0	0	0	1	0	0	0	16442	1406	49	3	635	3	TP53	17	7578190	Missense_Mutation	SNP	T	TCGA-S9-A6TU-01A-12D-A32B-08		7578190	73617020	22	33873											
GRB7	2886	broad.mit.edu	37	17	37902419	37902419	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6TU-01A-12D-A32B-08	TCGA-S9-A6TU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d474edd0-517b-42c3-bc4a-25ed1a5ab460	1cf5eb20-7436-43b2-99c7-321917c0c0b6	g.chr17:37902419C>T	ENST00000309185.3	+	13	1578	c.1328C>T	c.(1327-1329)gCc>gTc	p.A443V	GRB7_ENST00000394209.2_Silent_p.C472C|GRB7_ENST00000445327.2_Silent_p.C495C|GRB7_ENST00000394211.3_Silent_p.C472C|GRB7_ENST00000394204.1_Missense_Mutation_p.A443V|GRB7_ENST00000309156.4_Silent_p.C472C			Q14451	GRB7_HUMAN	growth factor receptor-bound protein 7	0	SH2.				blood coagulation|epidermal growth factor receptor signaling pathway|leukocyte migration|negative regulation of translation|positive regulation of cell migration|stress granule assembly	cytosol|focal adhesion|stress granule	phosphatidylinositol binding|protein kinase binding|SH3/SH2 adaptor activity	p.C472C(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;6.86e-60)|all cancers(3;1.65e-53)|BRCA - Breast invasive adenocarcinoma(8;2.03e-43)|STAD - Stomach adenocarcinoma(3;1.43e-12)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			TCTCTTTGTGCCACCTGCAGA	0.587													5	129					0	0	1	0	0	T	37902419	C	T	37902419	3	4	410	1	0	0	0	0	1	0	0	0	6800	747	26	2	1466	2	GRB7	17	37902419	Missense_Mutation	SNP	C	TCGA-S9-A6TU-01A-12D-A32B-08	30324229	37902419	43292791	23	33874											
HOXB3	3213	broad.mit.edu	37	17	46629478	46629478	+	Missense_Mutation	SNP	C	C	A			TCGA-S9-A6TU-01A-12D-A32B-08	TCGA-S9-A6TU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d474edd0-517b-42c3-bc4a-25ed1a5ab460	1cf5eb20-7436-43b2-99c7-321917c0c0b6	g.chr17:46629478C>A	ENST00000470495.1	-	1	1806	c.359G>T	c.(358-360)gGc>gTc	p.G120V	HOXB3_ENST00000485909.2_Intron|HOXB3_ENST00000476342.1_Missense_Mutation_p.G120V|HOXB3_ENST00000489475.1_Missense_Mutation_p.G47V|HOXB3_ENST00000311626.4_Missense_Mutation_p.G120V|HOXB3_ENST00000472863.1_Missense_Mutation_p.G47V|HOXB3_ENST00000490677.1_Intron|HOXB3_ENST00000498678.1_Missense_Mutation_p.G120V|HOXB3_ENST00000460160.1_Intron|HOXB-AS3_ENST00000465846.2_RNA			P14651	HXB3_HUMAN	homeobox B3	120					angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(16)|prostate(4)|upper_aerodigestive_tract(1)	30						GGAGTTGGTGCCGGGACCGCA	0.597													151	202					3.7336e-74	3.90331e-74	1	1	0	A	46629478	C	A	46629478	3	1	410	1	0	0	0	0	1	0	0	0	7343	739	26	5	944	5	HOXB3	17	46629478	Missense_Mutation	SNP	C	TCGA-S9-A6TU-01A-12D-A32B-08	8727059	46629478	34565732	24	33875											
CEP192	55125	broad.mit.edu	37	18	13114159	13114159	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6TU-01A-12D-A32B-08	TCGA-S9-A6TU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d474edd0-517b-42c3-bc4a-25ed1a5ab460	1cf5eb20-7436-43b2-99c7-321917c0c0b6	g.chr18:13114159G>A	ENST00000506447.1	+	42	7278	c.7198G>A	c.(7198-7200)Gca>Aca	p.A2400T	CEP192_ENST00000325971.8_Missense_Mutation_p.A1804T|CEP192_ENST00000540847.2_3'UTR|CEP192_ENST00000430049.2_Missense_Mutation_p.A1925T	NM_032142.3	NP_115518.3	B7ZMF0	B7ZMF0_HUMAN	centrosomal protein 192kDa	1995										NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						GCCTGAAAACGCATGCCTTTC	0.388													4	179					0	0	1	0	0	A	13114159	G	A	13114159	3	1	410	1	0	0	0	0	1	0	0	0	3273	1087	38	1	7360	1	CEP192	18	13114159	Missense_Mutation	SNP	G	TCGA-S9-A6TU-01A-12D-A32B-08		13114159	64963089	25	33876											
USP25	29761	broad.mit.edu	37	21	17199374	17199374	+	Silent	SNP	A	A	G			TCGA-S9-A6TU-01A-12D-A32B-08	TCGA-S9-A6TU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d474edd0-517b-42c3-bc4a-25ed1a5ab460	1cf5eb20-7436-43b2-99c7-321917c0c0b6	g.chr21:17199374A>G	ENST00000285681.2	+	14	1914	c.1545A>G	c.(1543-1545)agA>agG	p.R515R	USP25_ENST00000400183.2_Silent_p.R515R|USP25_ENST00000285679.6_Silent_p.R515R|USP25_ENST00000351097.5_Intron	NM_001283042.1	NP_001269971.1	Q9UHP3	UBP25_HUMAN	ubiquitin specific peptidase 25	515					protein modification process|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(4)|endometrium(6)|kidney(2)|large_intestine(13)|liver(5)|lung(14)|ovary(4)|prostate(1)|skin(1)|urinary_tract(2)	52				Epithelial(23;7.55e-05)|all cancers(11;0.000429)|COAD - Colon adenocarcinoma(22;0.00543)|OV - Ovarian serous cystadenocarcinoma(11;0.00743)|Colorectal(24;0.0116)|Lung(58;0.0853)|LUSC - Lung squamous cell carcinoma(23;0.0889)		TTTCATCGAGATCAGTAATAC	0.468													31	70					0	0	1	0	0	G	17199374	A	G	17199374	2	3	410	1	0	0	0	0	0	0	0	1	17116	330	12	3		3	USP25	21	17199374	Silent	SNP	A	TCGA-S9-A6TU-01A-12D-A32B-08		17199374	30930521	26	33877											
SPRR2D	6703	broad.mit.edu	37	1	153012733	153012733	+	Silent	SNP	C	C	T			TCGA-S9-A6TV-01A-12D-A34J-08	TCGA-S9-A6TV-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27b71bf2-c31a-48ee-aef4-8a0ad0a48e68	7de66b19-5722-46c3-ab65-e002d48b3117	g.chr1:153012733C>T	ENST00000368757.1	-	2	370	c.90G>A	c.(88-90)ccG>ccA	p.P30P	SPRR2D_ENST00000368758.3_Silent_p.P30P|SPRR2D_ENST00000368756.1_Silent_p.P30P|SPRR2D_ENST00000360379.3_Silent_p.P30P			P22532	SPR2D_HUMAN	small proline-rich protein 2D	30	3 X 9 AA tandem repeats of P-K-C-P-[EQ]- P-C-P-[PS].				keratinization	cornified envelope|cytoplasm				endometrium(1)|skin(1)	2	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CAGGGCACTTCGGGGGTGGAC	0.617													79	90					0	0	1	0	0	T	153012733	C	T	153012733	2	4	411	1	0	0	0	0	0	0	0	1	15155	871	31	1		1	SPRR2D	1	153012733	Silent	SNP	C	TCGA-S9-A6TV-01A-12D-A34J-08		153012733	96237888	1	33878											
DENND4B	9909	broad.mit.edu	37	1	153907309	153907309	+	Silent	SNP	C	C	T			TCGA-S9-A6TV-01A-12D-A34J-08	TCGA-S9-A6TV-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27b71bf2-c31a-48ee-aef4-8a0ad0a48e68	7de66b19-5722-46c3-ab65-e002d48b3117	g.chr1:153907309C>T	ENST00000361217.4	-	18	3118	c.2700G>A	c.(2698-2700)caG>caA	p.Q900Q		NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	900	Gln-rich.							p.Q788Q(1)|p.Q900Q(1)		NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			gctgctgttgctgctgctgct	0.642													3	55					0	0	1	0	0	T	153907309	C	T	153907309	2	4	411	1	0	0	0	0	0	0	0	1	4462	796	28	2		2	DENND4B	1	153907309	Silent	SNP	C	TCGA-S9-A6TV-01A-12D-A34J-08	894576	153907309	95343312	2	33879											
RYR2	6262	broad.mit.edu	37	1	237777667	237777667	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6TV-01A-12D-A34J-08	TCGA-S9-A6TV-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27b71bf2-c31a-48ee-aef4-8a0ad0a48e68	7de66b19-5722-46c3-ab65-e002d48b3117	g.chr1:237777667G>A	ENST00000366574.2	+	37	5556	c.5239G>A	c.(5239-5241)Ggc>Agc	p.G1747S	RYR2_ENST00000360064.6_Missense_Mutation_p.G1745S|RYR2_ENST00000542537.1_Missense_Mutation_p.G1731S	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1747	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CAAAAAACACGGCCTTCCAGG	0.517													9	13					0	0	1	0	0	A	237777667	G	A	237777667	3	1	411	1	0	0	0	0	1	0	0	0	13821	1116	39	1	5385	1	RYR2	1	237777667	Missense_Mutation	SNP	G	TCGA-S9-A6TV-01A-12D-A34J-08	83870358	237777667	11472954	3	33880											
CNNM3	26505	broad.mit.edu	37	2	97492662	97492662	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A6TV-01A-12D-A34J-08	TCGA-S9-A6TV-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27b71bf2-c31a-48ee-aef4-8a0ad0a48e68	7de66b19-5722-46c3-ab65-e002d48b3117	g.chr2:97492662T>C	ENST00000305510.3	+	3	1490	c.1462T>C	c.(1462-1464)Tat>Cat	p.Y488H	ANKRD23_ENST00000476975.1_Intron|CNNM3_ENST00000377060.3_Missense_Mutation_p.Y440H	NM_017623.4	NP_060093.3	Q8NE01	CNNM3_HUMAN	cyclin M3	488					ion transport	integral to membrane|plasma membrane	protein binding			NS(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(2)|skin(1)|urinary_tract(2)	13						TGATGATGAATATAAAGTAAC	0.567													43	44					0	0	1	0	0	C	97492662	T	C	97492662	3	2	411	1	0	0	0	0	1	0	0	0	3637	1406	49	3	1472	3	CNNM3	2	97492662	Missense_Mutation	SNP	T	TCGA-S9-A6TV-01A-12D-A34J-08		97492662	145706711	4	33881											
POTEE	445582	broad.mit.edu	37	2	132021797	132021797	+	Silent	SNP	C	C	T			TCGA-S9-A6TV-01A-12D-A34J-08	TCGA-S9-A6TV-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27b71bf2-c31a-48ee-aef4-8a0ad0a48e68	7de66b19-5722-46c3-ab65-e002d48b3117	g.chr2:132021797C>T	ENST00000356920.5	+	15	2863	c.2769C>T	c.(2767-2769)ttC>ttT	p.F923F	PLEKHB2_ENST00000404460.1_Intron|PLEKHB2_ENST00000303908.3_Intron|POTEE_ENST00000358087.5_3'UTR	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	923	Actin-like.						ATP binding										CCCTGGACTTCGAGCAGGAGA	0.597													8	250					0	0	1	0	0	T	132021797	C	T	132021797	2	4	411	1	0	0	0	0	0	0	0	1	12311	883	31	1		1	POTEE	2	132021797	Silent	SNP	C	TCGA-S9-A6TV-01A-12D-A34J-08	34529135	132021797	111177576	5	33882											
CCDC148	130940	broad.mit.edu	37	2	159166120	159166120	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6TV-01A-12D-A34J-08	TCGA-S9-A6TV-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27b71bf2-c31a-48ee-aef4-8a0ad0a48e68	7de66b19-5722-46c3-ab65-e002d48b3117	g.chr2:159166120C>T	ENST00000283233.5	-	9	1248	c.935G>A	c.(934-936)cGc>cAc	p.R312H	CCDC148_ENST00000409187.1_Missense_Mutation_p.R321H|CCDC148_ENST00000536771.1_Missense_Mutation_p.R226H	NM_138803.3	NP_620158.3	Q8NFR7	CC148_HUMAN	coiled-coil domain containing 148	312										endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						TATAGCAAAGCGATATTGGTC	0.348													4	69					0	0	1	0	0	T	159166120	C	T	159166120	3	4	411	1	0	0	0	0	1	0	0	0	2800	768	27	1	916	1	CCDC148	2	159166120	Missense_Mutation	SNP	C	TCGA-S9-A6TV-01A-12D-A34J-08	27144323	159166120	84033253	6	33883											
ANKRD44	91526	broad.mit.edu	37	2	198051803	198051803	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6TV-01A-12D-A34J-08	TCGA-S9-A6TV-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27b71bf2-c31a-48ee-aef4-8a0ad0a48e68	7de66b19-5722-46c3-ab65-e002d48b3117	g.chr2:198051803C>T	ENST00000282272.8	-	1	30	c.31G>A	c.(31-33)Ggt>Agt	p.G11S	ANKRD44_ENST00000450567.1_5'UTR|ANKRD44_ENST00000539527.1_5'UTR|ANKRD44_ENST00000328737.2_5'UTR|ANKRD44_ENST00000409919.1_Missense_Mutation_p.G19S|ANKRD44_ENST00000409153.1_Missense_Mutation_p.G19S	NM_001195144.1	NP_001182073.1	Q8N8A2	ANR44_HUMAN	ankyrin repeat domain 44	19							protein binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.246)			TCTGGATCACCGCTGAAGATT	0.443													42	74					0	0	1	0	0	T	198051803	C	T	198051803	3	4	411	1	0	0	0	0	1	0	0	0	666	667	23	1		1	ANKRD44	2	198051803	Missense_Mutation	SNP	C	TCGA-S9-A6TV-01A-12D-A34J-08	38885683	198051803	45147570	7	33884											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-S9-A6TV-01A-12D-A34J-08	TCGA-S9-A6TV-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27b71bf2-c31a-48ee-aef4-8a0ad0a48e68	7de66b19-5722-46c3-ab65-e002d48b3117	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								35	58					0	0	1	0	0	T	209113112	C	T	209113112	3	4	411	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-S9-A6TV-01A-12D-A34J-08	11061309	209113112	34086261	8	33885											
PLXNB1	5364	broad.mit.edu	37	3	48445969	48445969	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6TV-01A-12D-A34J-08	TCGA-S9-A6TV-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27b71bf2-c31a-48ee-aef4-8a0ad0a48e68	7de66b19-5722-46c3-ab65-e002d48b3117	g.chr3:48445969G>A	ENST00000358536.4	-	38	6601	c.6332C>T	c.(6331-6333)aCg>aTg	p.T2111M	PLXNB1_ENST00000358459.4_Missense_Mutation_p.T1928M|PLXNB1_ENST00000448774.2_Missense_Mutation_p.T722M|PLXNB1_ENST00000456774.1_Missense_Mutation_p.T1928M|PLXNB1_ENST00000296440.6_Missense_Mutation_p.T2111M	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN	plexin B1	2111					axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CTTCTGGGCCGTGCCATCCTC	0.547													11	12					0	0	1	0	0	A	48445969	G	A	48445969	3	1	411	1	0	0	0	0	1	0	0	0	12171	1145	40	1	79	1	PLXNB1	3	48445969	Missense_Mutation	SNP	G	TCGA-S9-A6TV-01A-12D-A34J-08		48445969	149576461	9	33886											
IL17RD	54756	broad.mit.edu	37	3	57144240	57144240	+	Frame_Shift_Del	DEL	T	T	-			TCGA-S9-A6TV-01A-12D-A34J-08	TCGA-S9-A6TV-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27b71bf2-c31a-48ee-aef4-8a0ad0a48e68	7de66b19-5722-46c3-ab65-e002d48b3117	g.chr3:57144240delT	ENST00000296318.7	-	4	498	c.410delA	c.(409-411)aacfs	p.N137fs	IL17RD_ENST00000463523.1_5'UTR|IL17RD_ENST00000427856.2_Frame_Shift_Del_p.N113fs|IL17RD_ENST00000320057.5_5'UTR	NM_017563.3	NP_060033.3	Q8NFM7	I17RD_HUMAN	interleukin 17 receptor D	137						Golgi membrane|integral to membrane|plasma membrane	receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(1)|ovary(1)|pancreas(1)	16				KIRC - Kidney renal clear cell carcinoma(284;0.0173)|Kidney(284;0.0204)		GAAGCTACTGTTGAGCTGCTT	0.463													2	4	---	---	---	---						-	57144240	T	-	57144240	7	5	411	1	0	1	0	1	0	0	0	0	7686	1725	60	0	1849	0	IL17RD	3	57144240	Frame_Shift_Del	DEL	T	TCGA-S9-A6TV-01A-12D-A34J-08	8698271	57144240	140878190	10	33887											
HS3ST1	9957	broad.mit.edu	37	4	11401181	11401181	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6TV-01A-12D-A34J-08	TCGA-S9-A6TV-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27b71bf2-c31a-48ee-aef4-8a0ad0a48e68	7de66b19-5722-46c3-ab65-e002d48b3117	g.chr4:11401181G>A	ENST00000002596.5	-	2	1623	c.449C>T	c.(448-450)tCg>tTg	p.S150L		NM_005114.2	NP_005105.1	O14792	HS3S1_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 1	150						Golgi lumen|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|skin(3)	15						CACGCGCTCCGACGGGTCTCG	0.597													23	27					0	0	1	0	0	A	11401181	G	A	11401181	3	1	411	1	0	0	0	0	1	0	0	0	7404	1059	37	1	478	1	HS3ST1	4	11401181	Missense_Mutation	SNP	G	TCGA-S9-A6TV-01A-12D-A34J-08		11401181	179753095	11	33888											
AADAT	51166	broad.mit.edu	37	4	170990336	170990336	+	Missense_Mutation	SNP	T	T	A			TCGA-S9-A6TV-01A-12D-A34J-08	TCGA-S9-A6TV-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27b71bf2-c31a-48ee-aef4-8a0ad0a48e68	7de66b19-5722-46c3-ab65-e002d48b3117	g.chr4:170990336T>A	ENST00000337664.4	-	7	1042	c.766A>T	c.(766-768)Atc>Ttc	p.I256F	AADAT_ENST00000515480.1_Missense_Mutation_p.I256F|AADAT_ENST00000509167.1_Missense_Mutation_p.I260F|AADAT_ENST00000353187.2_Missense_Mutation_p.I256F	NM_016228.3	NP_057312.1	Q8N5Z0	AADAT_HUMAN	aminoadipate aminotransferase	256					2-oxoglutarate metabolic process|biosynthetic process|glutamate metabolic process|lysine catabolic process	mitochondrial matrix	2-aminoadipate transaminase activity|kynurenine-oxoglutarate transaminase activity|protein homodimerization activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|pancreas(1)|stomach(1)	11		Prostate(90;0.00601)|Renal(120;0.0183)|all_neural(102;0.122)|Melanoma(52;0.17)		GBM - Glioblastoma multiforme(119;0.0355)|LUSC - Lung squamous cell carcinoma(193;0.118)	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	TCAGCTCTGATGACACGTCCA	0.388													25	37					0	0	1	0	0	A	170990336	T	A	170990336	3	1	411	1	0	0	0	0	1	0	0	0	14	1464	51	4	539	4	AADAT	4	170990336	Missense_Mutation	SNP	T	TCGA-S9-A6TV-01A-12D-A34J-08	159589155	170990336	20163940	12	33889											
ZFR	51663	broad.mit.edu	37	5	32407029	32407029	+	Silent	SNP	A	A	T	rs139769264		TCGA-S9-A6TV-01A-12D-A34J-08	TCGA-S9-A6TV-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27b71bf2-c31a-48ee-aef4-8a0ad0a48e68	7de66b19-5722-46c3-ab65-e002d48b3117	g.chr5:32407029A>T	ENST00000265069.8	-	6	984	c.882T>A	c.(880-882)gcT>gcA	p.A294A		NM_016107.3	NP_057191.2	Q96KR1	ZFR_HUMAN	zinc finger RNA binding protein	294	Ala-rich.				multicellular organismal development	chromosome|cytoplasm|nucleus	DNA binding|RNA binding|zinc ion binding	p.A294A(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2)	32				STAD - Stomach adenocarcinoma(35;0.19)		cagcagcagcagctgctgctg	0.483													3	56					0	0	1	0	0	T	32407029	A	T	32407029	2	4	411	1	0	0	0	0	0	0	0	1	17717	175	7	5		5	ZFR	5	32407029	Silent	SNP	A	TCGA-S9-A6TV-01A-12D-A34J-08		32407029	148508231	13	33890											
PDE4D	5144	broad.mit.edu	37	5	58272256	58272256	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A6TV-01A-12D-A34J-08	TCGA-S9-A6TV-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27b71bf2-c31a-48ee-aef4-8a0ad0a48e68	7de66b19-5722-46c3-ab65-e002d48b3117	g.chr5:58272256T>C	ENST00000340635.6	-	13	1926	c.1751A>G	c.(1750-1752)gAt>gGt	p.D584G	PDE4D_ENST00000317118.8_Missense_Mutation_p.D293G|PDE4D_ENST00000502484.2_Missense_Mutation_p.D523G|PDE4D_ENST00000405755.2_Missense_Mutation_p.D462G|PDE4D_ENST00000360047.5_Missense_Mutation_p.D448G|PDE4D_ENST00000503258.1_Missense_Mutation_p.D454G|PDE4D_ENST00000546160.1_Missense_Mutation_p.D523G|PDE4D_ENST00000507116.1_Missense_Mutation_p.D520G|PDE4D_ENST00000358923.6_Missense_Mutation_p.D282G	NM_001104631.1	NP_001098101.1	Q08499	PDE4D_HUMAN	phosphodiesterase 4D, cAMP-specific	584					signal transduction	cytosol|insoluble fraction|membrane|microtubule organizing center|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|pancreas(1)	15		all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954)		Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276)	Adenosine monophosphate(DB00131)|Dyphylline(DB00651)	AGTCTTCAAATCAGCCAGTAG	0.323													6	7					0	0	1	0	0	C	58272256	T	C	58272256	3	2	411	1	0	0	0	0	1	0	0	0	11689	1435	50	3	690	3	PDE4D	5	58272256	Missense_Mutation	SNP	T	TCGA-S9-A6TV-01A-12D-A34J-08	25865227	58272256	122643004	14	33891											
KCNK16	83795	broad.mit.edu	37	6	39284602	39284602	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6TV-01A-12D-A34J-08	TCGA-S9-A6TV-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27b71bf2-c31a-48ee-aef4-8a0ad0a48e68	7de66b19-5722-46c3-ab65-e002d48b3117	g.chr6:39284602G>A	ENST00000425054.2	-	4	616	c.617C>T	c.(616-618)gCt>gTt	p.A206V	KCNK16_ENST00000373227.4_Missense_Mutation_p.A206V|KCNK16_ENST00000437525.2_Missense_Mutation_p.A206V|KCNK16_ENST00000373229.5_Missense_Mutation_p.A206V|KCNK16_ENST00000507712.1_Missense_Mutation_p.A141V	NM_001135105.1	NP_001128577.1	Q96T55	KCNKG_HUMAN	potassium channel, subfamily K, member 16	206				FAF -> LLS (in Ref. 2; AAP82867).		integral to membrane	potassium channel activity|voltage-gated ion channel activity			large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)	13						AGTGATGAAAGCAAAGTAGAA	0.542													4	201					0	0	1	0	0	A	39284602	G	A	39284602	3	1	411	1	0	0	0	0	1	0	0	0	8107	971	34	2	709	2	KCNK16	6	39284602	Missense_Mutation	SNP	G	TCGA-S9-A6TV-01A-12D-A34J-08		39284602	131830465	15	33892											
WNT16	51384	broad.mit.edu	37	7	120979236	120979236	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6TV-01A-12D-A34J-08	TCGA-S9-A6TV-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27b71bf2-c31a-48ee-aef4-8a0ad0a48e68	7de66b19-5722-46c3-ab65-e002d48b3117	g.chr7:120979236G>A	ENST00000222462.2	+	4	1225	c.935G>A	c.(934-936)cGt>cAt	p.R312H	WNT16_ENST00000361301.2_Missense_Mutation_p.R302H	NM_057168.1	NP_476509.1	Q9UBV4	WNT16_HUMAN	wingless-type MMTV integration site family, member 16	312					anterior/posterior pattern formation|axis specification|axonogenesis|canonical Wnt receptor signaling pathway|keratinocyte differentiation|keratinocyte proliferation|negative regulation of cell death|optic cup formation involved in camera-type eye development|oxidative stress-induced premature senescence|positive regulation of gene expression|positive regulation of JNK cascade|positive regulation of phosphatidylinositol 3-kinase cascade|replicative senescence|Wnt receptor signaling pathway, calcium modulating pathway	cytoplasm|extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled binding|signal transducer activity			breast(1)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)	18	all_neural(327;0.117)					GAATGCAACCGTACATCAGAG	0.493													19	27					0	0	1	0	0	A	120979236	G	A	120979236	3	1	411	1	0	0	0	0	1	0	0	0	17445	1145	40	1	1018	1	WNT16	7	120979236	Missense_Mutation	SNP	G	TCGA-S9-A6TV-01A-12D-A34J-08		120979236	38159427	16	33893											
PTPRZ1	5803	broad.mit.edu	37	7	121651419	121651420	+	In_Frame_Ins	INS	-	-	TTG			TCGA-S9-A6TV-01A-12D-A34J-08	TCGA-S9-A6TV-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27b71bf2-c31a-48ee-aef4-8a0ad0a48e68	7de66b19-5722-46c3-ab65-e002d48b3117	g.chr7:121651419_121651420insTTG	ENST00000393386.2	+	12	2730_2731	c.2319_2320insTTG	c.(2320-2322)ttg>TTGttg	p.774_774L>LL	PTPRZ1_ENST00000483028.1_Intron|PTPRZ1_ENST00000449182.1_Intron	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	774					central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						TAGTCACCCCTTTGTTGCTTGA	0.485													8	122	---	---	---	---						TTG	121651420	-	TTG	121651419	7	5	411	1	0	1	1	0	0	0	0	0	12866	1596	56	0	2365	0	PTPRZ1	7	121651419	In_Frame_Ins	INS	-	TCGA-S9-A6TV-01A-12D-A34J-08	672183	121651419	37487244	17	33894											
SLC4A2	6522	broad.mit.edu	37	7	150762020	150762020	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6TV-01A-12D-A34J-08	TCGA-S9-A6TV-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27b71bf2-c31a-48ee-aef4-8a0ad0a48e68	7de66b19-5722-46c3-ab65-e002d48b3117	g.chr7:150762020C>T	ENST00000485713.1	+	5	1585	c.545C>T	c.(544-546)gCg>gTg	p.A182V	SLC4A2_ENST00000310317.5_Missense_Mutation_p.A100V|SLC4A2_ENST00000413384.2_Missense_Mutation_p.A182V|SLC4A2_ENST00000392826.2_Missense_Mutation_p.A173V|SLC4A2_ENST00000461735.1_Missense_Mutation_p.A168V	NM_001199692.1	NP_001186621.1	P04920	B3A2_HUMAN	solute carrier family 4 (anion exchanger), member 2	182	Pro-rich.				bicarbonate transport	integral to membrane|membrane fraction	inorganic anion exchanger activity			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(14)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CACCAGGAGGCGACTCCTCGG	0.587													14	38					0	0	1	0	0	T	150762020	C	T	150762020	3	4	411	1	0	0	0	0	1	0	0	0	14709	768	27	1	559	1	SLC4A2	7	150762020	Missense_Mutation	SNP	C	TCGA-S9-A6TV-01A-12D-A34J-08	29110601	150762020	8376643	18	33895											
UBR5	51366	broad.mit.edu	37	8	103269902	103269902	+	Nonsense_Mutation	SNP	C	C	T			TCGA-S9-A6TV-01A-12D-A34J-08	TCGA-S9-A6TV-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27b71bf2-c31a-48ee-aef4-8a0ad0a48e68	7de66b19-5722-46c3-ab65-e002d48b3117	g.chr8:103269902C>T	ENST00000520539.1	-	58	8751	c.8145G>A	c.(8143-8145)tgG>tgA	p.W2715*	UBR5_ENST00000518205.1_Nonsense_Mutation_p.W443*|UBR5_ENST00000521922.1_Nonsense_Mutation_p.W2708*|UBR5_ENST00000220959.4_Nonsense_Mutation_p.W2714*|KB-431C1.5_ENST00000606361.1_RNA	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	2715	HECT.				cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			CTACTATTGACCAGAACCAAC	0.328													8	109					0	0	1	0	0	T	103269902	C	T	103269902	4	4	411	1	0	0	0	0	0	1	0	0	16966	508	18	2	262	2	UBR5	8	103269902	Nonsense_Mutation	SNP	C	TCGA-S9-A6TV-01A-12D-A34J-08		103269902	43094120	19	33896											
KIFC2	90990	broad.mit.edu	37	8	145698697	145698697	+	Frame_Shift_Del	DEL	T	T	-			TCGA-S9-A6TV-01A-12D-A34J-08	TCGA-S9-A6TV-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27b71bf2-c31a-48ee-aef4-8a0ad0a48e68	7de66b19-5722-46c3-ab65-e002d48b3117	g.chr8:145698697delT	ENST00000301332.2	+	17	2758	c.2381delT	c.(2380-2382)ctgfs	p.L794fs	KIFC2_ENST00000301331.5_3'UTR	NM_145754.2	NP_665697.1	Q96AC6	KIFC2_HUMAN	kinesin family member C2	794	Pro-rich.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(7)|ovary(3)|prostate(3)|skin(2)|urinary_tract(1)	19	all_cancers(97;4.61e-11)|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;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)			CGCCGTCCCCTGGCAGTCCTC	0.746													2	4	---	---	---	---						-	145698697	T	-	145698697	7	5	411	1	0	1	0	1	0	0	0	0	8355	1580	55	0	2447	0	KIFC2	8	145698697	Frame_Shift_Del	DEL	T	TCGA-S9-A6TV-01A-12D-A34J-08	42428795	145698697	665325	20	33897											
IFT74	80173	broad.mit.edu	37	9	27062702	27062702	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6TV-01A-12D-A34J-08	TCGA-S9-A6TV-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27b71bf2-c31a-48ee-aef4-8a0ad0a48e68	7de66b19-5722-46c3-ab65-e002d48b3117	g.chr9:27062702G>A	ENST00000443698.1	+	20	1942	c.1771G>A	c.(1771-1773)Gtg>Atg	p.V591M	IFT74_ENST00000433700.1_Missense_Mutation_p.V591M|IFT74_ENST00000380062.5_Missense_Mutation_p.V591M	NM_001099222.1	NP_001092692.1	Q96LB3	IFT74_HUMAN	intraflagellar transport 74 homolog (Chlamydomonas)	591						cytoplasmic membrane-bounded vesicle|intraflagellar transport particle B|microtubule-based flagellum				endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	6		all_neural(11;2.36e-10)		Lung(218;1.4e-05)|LUSC - Lung squamous cell carcinoma(38;0.000114)		TAAAACCATCGTGGATGCTTT	0.403													21	31					0	0	1	0	0	A	27062702	G	A	27062702	3	1	411	1	0	0	0	0	1	0	0	0	7607	1145	40	1	1914	1	IFT74	9	27062702	Missense_Mutation	SNP	G	TCGA-S9-A6TV-01A-12D-A34J-08		27062702	114150729	21	33898											
ARID3C	138715	broad.mit.edu	37	9	34623537	34623537	+	Silent	SNP	C	C	T			TCGA-S9-A6TV-01A-12D-A34J-08	TCGA-S9-A6TV-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27b71bf2-c31a-48ee-aef4-8a0ad0a48e68	7de66b19-5722-46c3-ab65-e002d48b3117	g.chr9:34623537C>T	ENST00000378909.2	-	4	842	c.750G>A	c.(748-750)ttG>ttA	p.L250L		NM_001017363.1	NP_001017363.1	A6NKF2	ARI3C_HUMAN	AT rich interactive domain 3C (BRIGHT-like)	250	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)	14	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.175)		GGCCGGGACCCAAGGCTGGGT	0.721													19	16					0	0	1	0	0	T	34623537	C	T	34623537	2	4	411	1	0	0	0	0	0	0	0	1	915	593	21	2		2	ARID3C	9	34623537	Silent	SNP	C	TCGA-S9-A6TV-01A-12D-A34J-08	7560835	34623537	106589894	22	33899											
PCSK5	5125	broad.mit.edu	37	9	78925604	78925604	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A6TV-01A-12D-A34J-08	TCGA-S9-A6TV-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27b71bf2-c31a-48ee-aef4-8a0ad0a48e68	7de66b19-5722-46c3-ab65-e002d48b3117	g.chr9:78925604T>C	ENST00000545128.1	+	29	4178	c.3640T>C	c.(3640-3642)Tcc>Ccc	p.S1214P		NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	866					anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						CTGTGTTTCCTCCTGTCCCCA	0.517													12	19					0	0	1	0	0	C	78925604	T	C	78925604	3	2	411	1	0	0	0	0	1	0	0	0	11650	1566	54	3		3	PCSK5	9	78925604	Missense_Mutation	SNP	T	TCGA-S9-A6TV-01A-12D-A34J-08	44302067	78925604	62287827	23	33900											
USP6NL	9712	broad.mit.edu	37	10	11531171	11531171	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6TV-01A-12D-A34J-08	TCGA-S9-A6TV-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27b71bf2-c31a-48ee-aef4-8a0ad0a48e68	7de66b19-5722-46c3-ab65-e002d48b3117	g.chr10:11531171C>T	ENST00000609104.1	-	10	988	c.594G>A	c.(592-594)atG>atA	p.M198I	USP6NL_ENST00000277575.5_Missense_Mutation_p.M215I|USP6NL_ENST00000379237.2_Missense_Mutation_p.M221I	NM_014688.2	NP_055503.1	Q92738	US6NL_HUMAN	USP6 N-terminal like		Rab-GAP TBC.					intracellular	Rab GTPase activator activity			endometrium(3)|kidney(2)|large_intestine(6)|lung(18)|prostate(1)|skin(1)|urinary_tract(1)	32						CGTTCATATACATGAGGAGTA	0.483													21	71					0	0	1	0	0	T	11531171	C	T	11531171	3	4	411	1	0	0	0	0	1	0	0	0	17147	478	17	2	1916	2	USP6NL	10	11531171	Missense_Mutation	SNP	C	TCGA-S9-A6TV-01A-12D-A34J-08		11531171	124003576	24	33901											
SPON1	10418	broad.mit.edu	37	11	14063263	14063263	+	RNA	DEL	A	A	-	rs113227652		TCGA-S9-A6TV-01A-12D-A34J-08	TCGA-S9-A6TV-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27b71bf2-c31a-48ee-aef4-8a0ad0a48e68	7de66b19-5722-46c3-ab65-e002d48b3117	g.chr11:14063263delA	ENST00000310358.7	+	0	1017							Q9HCB6	SPON1_HUMAN	spondin 1, extracellular matrix protein						cell adhesion	extracellular space|proteinaceous extracellular matrix	protein binding			NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	21				Epithelial(150;0.00898)		GATTGCAGGGAAAAAAAAAAA	0.423													4	8	---	---	---	---						-	14063263	A	-	14063263	6	5	411	0	1	1	0	1	0	0	0	0	15138	261	9	0		0	SPON1	11	14063263	RNA	DEL	A	TCGA-S9-A6TV-01A-12D-A34J-08		14063263	120943253	25	33902											
DYNC2H1	79659	broad.mit.edu	37	11	103194689	103194689	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6TV-01A-12D-A34J-08	TCGA-S9-A6TV-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27b71bf2-c31a-48ee-aef4-8a0ad0a48e68	7de66b19-5722-46c3-ab65-e002d48b3117	g.chr11:103194689C>T	ENST00000375735.2	+	82	12154	c.12010C>T	c.(12010-12012)Cgc>Tgc	p.R4004C	DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Missense_Mutation_p.R4011C	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	4004					cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		CAATATCGCTCGCTCATCTCA	0.393													4	27					0	0	1	0	0	T	103194689	C	T	103194689	3	4	411	1	0	0	0	0	1	0	0	0	4872	884	31	1	12361	1	DYNC2H1	11	103194689	Missense_Mutation	SNP	C	TCGA-S9-A6TV-01A-12D-A34J-08	89131426	103194689	31811827	26	33903											
UBC	7316	broad.mit.edu	37	12	125397652	125397652	+	Silent	SNP	T	T	C	rs146795524		TCGA-S9-A6TV-01A-12D-A34J-08	TCGA-S9-A6TV-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27b71bf2-c31a-48ee-aef4-8a0ad0a48e68	7de66b19-5722-46c3-ab65-e002d48b3117	g.chr12:125397652T>C	ENST00000536769.1	-	1	2242	c.666A>G	c.(664-666)gtA>gtG	p.V222V	UBC_ENST00000538617.1_Intron|UBC_ENST00000546120.1_Silent_p.V146V|UBC_ENST00000339647.5_Silent_p.V222V			P0CG48	UBC_HUMAN	ubiquitin C	222	Ubiquitin-like 3.				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding			breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		TGAGACGGAGTACCAGGTGCA	0.512													4	167					0	0	1	0	0	C	125397652	T	C	125397652	2	2	411	1	0	0	0	0	0	0	0	1	16903	1625	57	3		3	UBC	12	125397652	Silent	SNP	T	TCGA-S9-A6TV-01A-12D-A34J-08		125397652	8454243	27	33904											
NDFIP2	54602	broad.mit.edu	37	13	80117788	80117788	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A6TV-01A-12D-A34J-08	TCGA-S9-A6TV-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27b71bf2-c31a-48ee-aef4-8a0ad0a48e68	7de66b19-5722-46c3-ab65-e002d48b3117	g.chr13:80117788T>C	ENST00000218652.7	+	5	863	c.811T>C	c.(811-813)Tcc>Ccc	p.S271P		NM_001161407.1|NM_019080.2	NP_001154879.1|NP_061953.2	Q9NV92	NFIP2_HUMAN	Nedd4 family interacting protein 2	271					negative regulation of gene expression|negative regulation of protein transport|negative regulation of transporter activity|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of protein ubiquitination	endoplasmic reticulum|Golgi membrane|integral to membrane|mitochondrion|multivesicular body membrane|perinuclear region of cytoplasm	signal transducer activity|WW domain binding			NS(1)|breast(1)|endometrium(2)|kidney(3)|lung(3)|ovary(2)|prostate(1)|skin(1)	14		Acute lymphoblastic leukemia(28;0.205)		GBM - Glioblastoma multiforme(99;0.0196)		ATTTGGCCTTTCCTTGATCAA	0.378													62	52					0	0	1	0	0	C	80117788	T	C	80117788	3	2	411	1	0	0	0	0	1	0	0	0	10293	1783	62	3	829	3	NDFIP2	13	80117788	Missense_Mutation	SNP	T	TCGA-S9-A6TV-01A-12D-A34J-08		80117788	35052090	28	33905											
CDC42BPB	9578	broad.mit.edu	37	14	103442111	103442111	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6TV-01A-12D-A34J-08	TCGA-S9-A6TV-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27b71bf2-c31a-48ee-aef4-8a0ad0a48e68	7de66b19-5722-46c3-ab65-e002d48b3117	g.chr14:103442111C>T	ENST00000361246.2	-	11	1705	c.1417G>A	c.(1417-1419)Ggc>Agc	p.G473S		NM_006035.3	NP_006026.3	Q9Y5S2	MRCKB_HUMAN	CDC42 binding protein kinase beta (DMPK-like)	473					actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		CGAGATGAGCCGTGGAGGGAC	0.557													36	121					0	0	1	0	0	T	103442111	C	T	103442111	3	4	411	1	0	0	0	0	1	0	0	0	3095	652	23	1	3826	1	CDC42BPB	14	103442111	Missense_Mutation	SNP	C	TCGA-S9-A6TV-01A-12D-A34J-08		103442111	3907429	29	33906											
SLC12A1	6557	broad.mit.edu	37	15	48539642	48539642	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6TV-01A-12D-A34J-08	TCGA-S9-A6TV-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27b71bf2-c31a-48ee-aef4-8a0ad0a48e68	7de66b19-5722-46c3-ab65-e002d48b3117	g.chr15:48539642G>A	ENST00000396577.3	+	13	1884	c.1669G>A	c.(1669-1671)Gca>Aca	p.A557T	SLC12A1_ENST00000380993.3_Missense_Mutation_p.A557T|SLC12A1_ENST00000558405.1_Missense_Mutation_p.A557T	NM_001184832.1	NP_001171761.1	Q13621	S12A1_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 1	557					potassium ion transport|sodium ion transport	integral to membrane|membrane fraction	sodium:potassium:chloride symporter activity			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1)	59		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	TATAGCCATGGCATTTATTCT	0.328													14	8					0	0	1	0	0	A	48539642	G	A	48539642	3	1	411	1	0	0	0	0	1	0	0	0	14437	1203	42	2	1815	2	SLC12A1	15	48539642	Missense_Mutation	SNP	G	TCGA-S9-A6TV-01A-12D-A34J-08		48539642	53991750	30	33907											
ABHD2	11057	broad.mit.edu	37	15	89736538	89736538	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A6TV-01A-12D-A34J-08	TCGA-S9-A6TV-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27b71bf2-c31a-48ee-aef4-8a0ad0a48e68	7de66b19-5722-46c3-ab65-e002d48b3117	g.chr15:89736538A>G	ENST00000352732.5	+	10	1589	c.1069A>G	c.(1069-1071)Aaa>Gaa	p.K357E	ABHD2_ENST00000355100.3_Missense_Mutation_p.K357E|ABHD2_ENST00000565973.1_Missense_Mutation_p.K357E	NM_152924.4	NP_690888.1	P08910	ABHD2_HUMAN	abhydrolase domain containing 2	357						integral to membrane	carboxylesterase activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|soft_tissue(1)	23	Lung NSC(78;0.0472)|all_lung(78;0.089)					AACCATTCCAAAATCTCTTTC	0.433													29	42					0	0	1	0	0	G	89736538	A	G	89736538	3	3	411	1	0	0	0	0	1	0	0	0	82	15	1	3	1099	3	ABHD2	15	89736538	Missense_Mutation	SNP	A	TCGA-S9-A6TV-01A-12D-A34J-08	41196896	89736538	12794854	31	33908											
CNOT1	23019	broad.mit.edu	37	16	58587700	58587700	+	Missense_Mutation	SNP	G	G	T			TCGA-S9-A6TV-01A-12D-A34J-08	TCGA-S9-A6TV-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27b71bf2-c31a-48ee-aef4-8a0ad0a48e68	7de66b19-5722-46c3-ab65-e002d48b3117	g.chr16:58587700G>T	ENST00000317147.5	-	22	3288	c.2956C>A	c.(2956-2958)Cat>Aat	p.H986N	CNOT1_ENST00000569240.1_Missense_Mutation_p.H981N|CNOT1_ENST00000569732.1_Intron|CNOT1_ENST00000441024.2_Missense_Mutation_p.H986N	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	986					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		TGTAAATGATGTGGAAATTGC	0.358													25	35					1.42536e-11	1.45127e-11	1	1	0	T	58587700	G	T	58587700	3	4	411	1	0	0	0	0	1	0	0	0	3640	1377	48	5	4508	5	CNOT1	16	58587700	Missense_Mutation	SNP	G	TCGA-S9-A6TV-01A-12D-A34J-08		58587700	31767053	32	33909											
TP53	7157	broad.mit.edu	37	17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	rs121913343		TCGA-S9-A6TV-01A-12D-A34J-08	TCGA-S9-A6TV-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27b71bf2-c31a-48ee-aef4-8a0ad0a48e68	7de66b19-5722-46c3-ab65-e002d48b3117	g.chr17:7577121G>A	ENST00000420246.2	-	8	949	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000269305.4_Missense_Mutation_p.R273C|TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.R273C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	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).		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.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			20	2					0	0	1	0	0	A	7577121	G	A	7577121	3	1	411	1	0	0	0	0	1	0	0	0	16442	1087	38	1	469	1	TP53	17	7577121	Missense_Mutation	SNP	G	TCGA-S9-A6TV-01A-12D-A34J-08		7577121	73618089	33	33910											
EFCAB5	374786	broad.mit.edu	37	17	28405524	28405524	+	Splice_Site	SNP	T	T	C			TCGA-S9-A6TV-01A-12D-A34J-08	TCGA-S9-A6TV-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27b71bf2-c31a-48ee-aef4-8a0ad0a48e68	7de66b19-5722-46c3-ab65-e002d48b3117	g.chr17:28405524T>C	ENST00000394835.3	+	15	3219		c.e15+2		EFCAB5_ENST00000394832.2_Intron|EFCAB5_ENST00000320856.5_Splice_Site	NM_198529.3	NP_940931	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5								calcium ion binding			breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						CTCATGCAGGTACGTTTCCTA	0.463													12	7					0	0	1	0	0	C	28405524	T	C	28405524	5	2	411	1	0	0	0	0	0	0	1	0	4964	1652	57	3	3254	3	EFCAB5	17	28405524	Splice_Site	SNP	T	TCGA-S9-A6TV-01A-12D-A34J-08	20828403	28405524	52789686	34	33911											
LHX1	3975	broad.mit.edu	37	17	35298051	35298051	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6TV-01A-12D-A34J-08	TCGA-S9-A6TV-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27b71bf2-c31a-48ee-aef4-8a0ad0a48e68	7de66b19-5722-46c3-ab65-e002d48b3117	g.chr17:35298051G>A	ENST00000254457.5	+	3	1953	c.542G>A	c.(541-543)cGg>cAg	p.R181Q	RP11-445F12.2_ENST00000607336.1_RNA	NM_005568.3	NP_005559.2	P48742	LHX1_HUMAN	LIM homeobox 1	181					cerebellar Purkinje cell differentiation|cerebellar Purkinje cell-granule cell precursor cell signaling involved in regulation of granule cell precursor cell proliferation|cervix development|comma-shaped body morphogenesis|dorsal/ventral pattern formation|ectoderm formation|embryonic pattern specification|embryonic retina morphogenesis in camera-type eye|embryonic viscerocranium morphogenesis|endoderm formation|forebrain regionalization|head development|motor axon guidance|negative regulation of transcription, DNA-dependent|nephric duct morphogenesis|nephron tubule epithelial cell differentiation|neuron migration|oviduct epithelium development|paramesonephric duct development|positive regulation of anterior head development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of embryonic development|positive regulation of gastrulation|positive regulation of transcription, DNA-dependent|post-embryonic development|primitive streak formation|renal vesicle morphogenesis|retina layer formation|S-shaped body morphogenesis|spinal cord association neuron differentiation|transcription from RNA polymerase II promoter|ureteric bud development|uterine epithelium development|vagina development	nucleus|protein complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	16		Breast(25;0.00607)				GCCAAGCGGCGGGGACCGCGC	0.667													20	21					0	0	1	0	0	A	35298051	G	A	35298051	3	1	411	1	0	0	0	0	1	0	0	0	8810	1116	39	1	552	1	LHX1	17	35298051	Missense_Mutation	SNP	G	TCGA-S9-A6TV-01A-12D-A34J-08	6892527	35298051	45897159	35	33912											
RNF43	54894	broad.mit.edu	37	17	56439937	56439937	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6TV-01A-12D-A34J-08	TCGA-S9-A6TV-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27b71bf2-c31a-48ee-aef4-8a0ad0a48e68	7de66b19-5722-46c3-ab65-e002d48b3117	g.chr17:56439937G>A	ENST00000584437.1	-	5	2610	c.655C>T	c.(655-657)Cgc>Tgc	p.R219C	RNF43_ENST00000577716.1_Missense_Mutation_p.R219C|RNF43_ENST00000581868.1_Missense_Mutation_p.R92C|RNF43_ENST00000407977.2_Missense_Mutation_p.R219C|RNF43_ENST00000577625.1_Missense_Mutation_p.R92C|RNF43_ENST00000583753.1_Missense_Mutation_p.R178C|BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000500597.2_Missense_Mutation_p.R178C			Q68DV7	RNF43_HUMAN	ring finger protein 43	219						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)					CACCGGATGCGCAGCACCGAA	0.607													7	51					0	0	1	0	0	A	56439937	G	A	56439937	3	1	411	1	0	0	0	0	1	0	0	0	13547	1087	38	1	1716	1	RNF43	17	56439937	Missense_Mutation	SNP	G	TCGA-S9-A6TV-01A-12D-A34J-08	21141886	56439937	24755273	36	33913											
MED16	10025	broad.mit.edu	37	19	877046	877046	+	Missense_Mutation	SNP	C	C	A			TCGA-S9-A6TV-01A-12D-A34J-08	TCGA-S9-A6TV-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27b71bf2-c31a-48ee-aef4-8a0ad0a48e68	7de66b19-5722-46c3-ab65-e002d48b3117	g.chr19:877046C>A	ENST00000312090.6	-	9	1638	c.1488G>T	c.(1486-1488)caG>caT	p.Q496H	MED16_ENST00000395808.3_Missense_Mutation_p.Q496H|MED16_ENST00000269814.4_Missense_Mutation_p.Q496H|MED16_ENST00000606828.1_Intron|MED16_ENST00000325464.1_Missense_Mutation_p.Q496H|MED16_ENST00000589119.1_Missense_Mutation_p.Q496H			Q9Y2X0	MED16_HUMAN	mediator complex subunit 16	496					androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	receptor activity|thyroid hormone receptor binding|thyroid hormone receptor coactivator activity|vitamin D receptor binding			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|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)		CCATACTGGGCTGCACGTGCA	0.682													48	10					1.19451e-25	1.26213e-25	1	1	0	A	877046	C	A	877046	3	1	411	1	0	0	0	0	1	0	0	0	9484	796	28	4	1177	4	MED16	19	877046	Missense_Mutation	SNP	C	TCGA-S9-A6TV-01A-12D-A34J-08		877046	58251937	37	33914											
ATP13A1	57130	broad.mit.edu	37	19	19770501	19770501	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6TV-01A-12D-A34J-08	TCGA-S9-A6TV-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27b71bf2-c31a-48ee-aef4-8a0ad0a48e68	7de66b19-5722-46c3-ab65-e002d48b3117	g.chr19:19770501C>T	ENST00000357324.6	-	3	612	c.586G>A	c.(586-588)Gtg>Atg	p.V196M	ATP13A1_ENST00000291503.5_Missense_Mutation_p.V78M	NM_020410.2	NP_065143.2	Q9HD20	AT131_HUMAN	ATPase type 13A1	196					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						GCGTTTCCCACAGGAAAGGCC	0.517													11	27					0	0	1	0	0	T	19770501	C	T	19770501	3	4	411	1	0	0	0	0	1	0	0	0	1122	478	17	2	3124	2	ATP13A1	19	19770501	Missense_Mutation	SNP	C	TCGA-S9-A6TV-01A-12D-A34J-08	18893455	19770501	39358482	38	33915											
RASSF2	9770	broad.mit.edu	37	20	4771250	4771250	+	Silent	SNP	C	C	T			TCGA-S9-A6TV-01A-12D-A34J-08	TCGA-S9-A6TV-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27b71bf2-c31a-48ee-aef4-8a0ad0a48e68	7de66b19-5722-46c3-ab65-e002d48b3117	g.chr20:4771250C>T	ENST00000379400.3	-	7	579	c.384G>A	c.(382-384)agG>agA	p.R128R	RASSF2_ENST00000478553.1_5'UTR|RASSF2_ENST00000379376.2_Silent_p.R128R	NM_014737.2	NP_055552.1	P50749	RASF2_HUMAN	Ras association (RalGDS/AF-6) domain family member 2	128					cell cycle|signal transduction	nucleus	protein binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|pancreas(2)|prostate(2)|skin(2)	34						GCTTCAGGCCCCTGGAGTCTG	0.607													11	21					0	0	1	0	0	T	4771250	C	T	4771250	2	4	411	1	0	0	0	0	0	0	0	1	13138	622	22	2		2	RASSF2	20	4771250	Silent	SNP	C	TCGA-S9-A6TV-01A-12D-A34J-08		4771250	58254270	39	33916											
GAGE2A	729447	broad.mit.edu	37	X	49355893	49355893	+	Missense_Mutation	SNP	C	C	G	rs147803166	by1000genomes	TCGA-S9-A6TV-01A-12D-A34J-08	TCGA-S9-A6TV-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27b71bf2-c31a-48ee-aef4-8a0ad0a48e68	7de66b19-5722-46c3-ab65-e002d48b3117	g.chrX:49355893C>G	ENST00000362097.1	+	3	258	c.175C>G	c.(175-177)Cag>Gag	p.Q59E		NM_001127212.1	NP_001120684.1			G antigen 2A									p.Q59E(8)		endometrium(4)	4	Ovarian(276;0.236)					TCAGGAGGGACAGGATGAGGG	0.562													5	485					0	0	1	0	0	G	49355893	C	G	49355893	3	3	411	1	0	0	0	0	1	0	0	0	6226	479	17	5	1282	5	GAGE2A	23	49355893	Missense_Mutation	SNP	C	TCGA-S9-A6TV-01A-12D-A34J-08		49355893	105914667	40	33917											
ATRX	546	broad.mit.edu	37	X	76829787	76829787	+	Missense_Mutation	SNP	C	C	G			TCGA-S9-A6TV-01A-12D-A34J-08	TCGA-S9-A6TV-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27b71bf2-c31a-48ee-aef4-8a0ad0a48e68	7de66b19-5722-46c3-ab65-e002d48b3117	g.chrX:76829787C>G	ENST00000373344.5	-	28	6468	c.6254G>C	c.(6253-6255)cGt>cCt	p.R2085P	ATRX_ENST00000395603.3_Missense_Mutation_p.R2047P|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	2085	Helicase C-terminal.				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)	ACCATCTAAACGGTAATAGTC	0.363			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						84	16					0	0	1	0	0	G	76829787	C	G	76829787	3	3	411	1	0	0	0	0	1	0	0	0	1206	536	19	5	1256	5	ATRX	23	76829787	Missense_Mutation	SNP	C	TCGA-S9-A6TV-01A-12D-A34J-08	27473894	76829787	78440773	41	33918											
AFF2	2334	broad.mit.edu	37	X	148038126	148038126	+	Missense_Mutation	SNP	G	G	T			TCGA-S9-A6TV-01A-12D-A34J-08	TCGA-S9-A6TV-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27b71bf2-c31a-48ee-aef4-8a0ad0a48e68	7de66b19-5722-46c3-ab65-e002d48b3117	g.chrX:148038126G>T	ENST00000370460.2	+	11	3030	c.2551G>T	c.(2551-2553)Ggc>Tgc	p.G851C	AFF2_ENST00000370457.5_Missense_Mutation_p.G818C|AFF2_ENST00000286437.5_Missense_Mutation_p.G492C|AFF2_ENST00000342251.3_Missense_Mutation_p.G818C	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	851					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					AGCCCCTAAGGGCAAACGTAA	0.517													24	6					7.87624e-14	8.16796e-14	1	1	0	T	148038126	G	T	148038126	3	4	411	1	0	0	0	0	1	0	0	0	356	1232	43	5	2648	5	AFF2	23	148038126	Missense_Mutation	SNP	G	TCGA-S9-A6TV-01A-12D-A34J-08	71208339	148038126	7232434	42	33919											
SGIP1	84251	broad.mit.edu	37	1	67109265	67109267	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-S9-A6TW-01A-12D-A32B-08	TCGA-S9-A6TW-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17f602fa-959f-4650-bcde-43821303d338	2ec5ceb4-e857-43a2-b7be-0e7a97a37804	g.chr1:67109265_67109267delGAA	ENST00000371037.4	+	7	399_401	c.322_324delGAA	c.(322-324)gaadel	p.E112del	SGIP1_ENST00000371036.3_In_Frame_Del_p.E87del|SGIP1_ENST00000237247.6_In_Frame_Del_p.E116del|SGIP1_ENST00000371039.1_In_Frame_Del_p.E88del|SGIP1_ENST00000371035.3_In_Frame_Del_p.E69del|SGIP1_ENST00000468286.1_3'UTR	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1	112	Poly-Glu.		E -> Q (in dbSNP:rs17490057).		positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	microtubule binding|phospholipid binding|SH3 domain binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						AAGTGAATCGGAAGAAGAAGAAG	0.345													17	33	---	---	---	---						-	67109267	GAA	-	67109265	7	5	412	1	0	1	0	1	0	0	0	0	14260	1175	41	0	348	0	SGIP1	1	67109265	In_Frame_Del	DEL	GAA	TCGA-S9-A6TW-01A-12D-A32B-08		67109265	182141356	1	33920											
HHAT	55733	broad.mit.edu	37	1	210796935	210796935	+	Silent	SNP	G	G	A			TCGA-S9-A6TW-01A-12D-A32B-08	TCGA-S9-A6TW-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17f602fa-959f-4650-bcde-43821303d338	2ec5ceb4-e857-43a2-b7be-0e7a97a37804	g.chr1:210796935G>A	ENST00000367010.1	+	11	1538	c.1311G>A	c.(1309-1311)tcG>tcA	p.S437S	HHAT_ENST00000413764.2_Silent_p.S437S|HHAT_ENST00000367009.1_Silent_p.S127S|HHAT_ENST00000391905.3_Silent_p.S437S|HHAT_ENST00000537898.1_Silent_p.S372S|HHAT_ENST00000261458.3_Silent_p.S437S|HHAT_ENST00000541565.1_Silent_p.S300S|HHAT_ENST00000308852.6_Silent_p.S392S|HHAT_ENST00000545781.1_Silent_p.S374S|HHAT_ENST00000545154.1_Silent_p.S438S	NM_001170580.1	NP_001164051.1	Q5VTY9	HHAT_HUMAN	hedgehog acyltransferase	437					multicellular organismal development	endoplasmic reticulum membrane|integral to membrane	GTP binding			breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	27				OV - Ovarian serous cystadenocarcinoma(81;0.0136)|all cancers(67;0.161)|KIRC - Kidney renal clear cell carcinoma(1967;0.215)		GTTCCACCTCGATGCTGATCC	0.502													108	231					0	0	1	0	0	A	210796935	G	A	210796935	2	1	412	1	0	0	0	0	0	0	0	1	7130	1045	37	1		1	HHAT	1	210796935	Silent	SNP	G	TCGA-S9-A6TW-01A-12D-A32B-08	143687670	210796935	38453686	2	33921											
DCTN1	1639	broad.mit.edu	37	2	74598294	74598296	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-S9-A6TW-01A-12D-A32B-08	TCGA-S9-A6TW-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17f602fa-959f-4650-bcde-43821303d338	2ec5ceb4-e857-43a2-b7be-0e7a97a37804	g.chr2:74598294_74598296delCCT	ENST00000361874.3	-	9	970_972	c.653_655delAGG	c.(652-657)gaggga>gga	p.E218del	DCTN1_ENST00000409240.1_In_Frame_Del_p.E181del|DCTN1_ENST00000409567.3_In_Frame_Del_p.E198del|DCTN1_ENST00000409438.1_In_Frame_Del_p.E84del|DCTN1_ENST00000394003.3_In_Frame_Del_p.E211del|DCTN1_ENST00000407639.2_In_Frame_Del_p.E84del|DCTN1_ENST00000409868.1_In_Frame_Del_p.E201del	NM_004082.4	NP_004073.2	Q14203	DCTN1_HUMAN	dynactin 1	218					cell death|G2/M transition of mitotic cell cycle|mitosis|nervous system development	centrosome|cytosol|kinetochore|microtubule|spindle pole	motor activity|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						GCCCTTAGTCCCTCCTCCTCCTG	0.542													11	347	---	---	---	---						-	74598296	CCT	-	74598294	7	5	412	1	0	1	0	1	0	0	0	0	4329	632	22	0	3277	0	DCTN1	2	74598294	In_Frame_Del	DEL	CCT	TCGA-S9-A6TW-01A-12D-A32B-08		74598294	168601079	3	33922											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-S9-A6TW-01A-12D-A32B-08	TCGA-S9-A6TW-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17f602fa-959f-4650-bcde-43821303d338	2ec5ceb4-e857-43a2-b7be-0e7a97a37804	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	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								19	32					0	0	1	0	0	T	209113112	C	T	209113112	3	4	412	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-S9-A6TW-01A-12D-A32B-08	134514818	209113112	34086261	4	33923											
CPNE9	151835	broad.mit.edu	37	3	9754444	9754444	+	Silent	SNP	G	G	A			TCGA-S9-A6TW-01A-12D-A32B-08	TCGA-S9-A6TW-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17f602fa-959f-4650-bcde-43821303d338	2ec5ceb4-e857-43a2-b7be-0e7a97a37804	g.chr3:9754444G>A	ENST00000383832.3	+	9	667	c.477G>A	c.(475-477)ctG>ctA	p.L159L	CPNE9_ENST00000383831.3_Silent_p.L159L	NM_153635.2	NP_705899.2	Q8IYJ1	CPNE9_HUMAN	copine family member IX	159	C2 2.									breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	16	Medulloblastoma(99;0.227)					CAAACAAGCTGGACAAGAAGG	0.517													43	98					0	0	1	0	0	A	9754444	G	A	9754444	2	1	412	1	0	0	0	0	0	0	0	1	3842	1335	47	2		2	CPNE9	3	9754444	Silent	SNP	G	TCGA-S9-A6TW-01A-12D-A32B-08		9754444	188267986	5	33924											
UBP1	7342	broad.mit.edu	37	3	33450750	33450750	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A6TW-01A-12D-A32B-08	TCGA-S9-A6TW-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17f602fa-959f-4650-bcde-43821303d338	2ec5ceb4-e857-43a2-b7be-0e7a97a37804	g.chr3:33450750T>C	ENST00000283629.3	-	7	1326	c.797A>G	c.(796-798)tAt>tGt	p.Y266C	UBP1_ENST00000283628.5_Missense_Mutation_p.Y266C|UBP1_ENST00000447368.2_Missense_Mutation_p.Y266C	NM_001128161.1|NM_014517.4	NP_001121633.1|NP_055332.3	Q9NZI7	UBIP1_HUMAN	upstream binding protein 1 (LBP-1a)	266					negative regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|viral genome replication	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|urinary_tract(2)	23						TGTGGTATCATAGGACGGCTG	0.383													44	127					0	0	1	0	0	C	33450750	T	C	33450750	3	2	412	1	0	0	0	0	1	0	0	0	16956	1406	49	3	865	3	UBP1	3	33450750	Missense_Mutation	SNP	T	TCGA-S9-A6TW-01A-12D-A32B-08	23696306	33450750	164571680	6	33925											
RASSF1	11186	broad.mit.edu	37	3	50368774	50368774	+	Silent	SNP	C	C	T			TCGA-S9-A6TW-01A-12D-A32B-08	TCGA-S9-A6TW-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17f602fa-959f-4650-bcde-43821303d338	2ec5ceb4-e857-43a2-b7be-0e7a97a37804	g.chr3:50368774C>T	ENST00000359365.4	-	5	973	c.867G>A	c.(865-867)ggG>ggA	p.G289G	RASSF1_ENST00000327761.3_Silent_p.G219G|RASSF1_ENST00000395126.3_Silent_p.G138G|RASSF1_ENST00000357043.2_Silent_p.G293G	NM_001206957.1|NM_007182.4|NM_170714.1	NP_001193886.1|NP_009113.3|NP_733832.1	Q9NS23	RASF1_HUMAN	Ras association (RalGDS/AF-6) domain family member 1	293	Ras-associating.				cell cycle arrest|negative regulation of cell cycle arrest|positive regulation of protein ubiquitination|protein stabilization|Ras protein signal transduction|response to DNA damage stimulus	microtubule|microtubule cytoskeleton|microtubule organizing center|nucleus|spindle pole	identical protein binding|protein binding|protein N-terminus binding|zinc ion binding			lung(2)|ovary(1)|skin(1)|urinary_tract(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.000278)|OV - Ovarian serous cystadenocarcinoma(275;0.0015)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		CGTTCACCTCCCCAGAGTCAT	0.542													13	29					0	0	1	0	0	T	50368774	C	T	50368774	2	4	412	1	0	0	0	0	0	0	0	1	13136	610	22	2		2	RASSF1	3	50368774	Silent	SNP	C	TCGA-S9-A6TW-01A-12D-A32B-08	16918024	50368774	147653656	7	33926											
PIK3CA	5290	broad.mit.edu	37	3	178916938	178916940	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-S9-A6TW-01A-12D-A32B-08	TCGA-S9-A6TW-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17f602fa-959f-4650-bcde-43821303d338	2ec5ceb4-e857-43a2-b7be-0e7a97a37804	g.chr3:178916938_178916940delGAA	ENST00000263967.3	+	2	482_484	c.325_327delGAA	c.(325-327)gaadel	p.E110del		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	110					epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E109del(3)|p.G106_R108del(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			AGGCAACCGTGAAGAAAAGATCC	0.34		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			41	80	---	---	---	---						-	178916940	GAA	-	178916938	7	5	412	1	0	1	0	1	0	0	0	0	11961	1291	45	0	327	0	PIK3CA	3	178916938	In_Frame_Del	DEL	GAA	TCGA-S9-A6TW-01A-12D-A32B-08	128548164	178916938	19105492	8	33927											
PIK3CA	5290	broad.mit.edu	37	3	178921551	178921551	+	Missense_Mutation	SNP	A	A	T			TCGA-S9-A6TW-01A-12D-A32B-08	TCGA-S9-A6TW-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17f602fa-959f-4650-bcde-43821303d338	2ec5ceb4-e857-43a2-b7be-0e7a97a37804	g.chr3:178921551A>T	ENST00000263967.3	+	5	1190	c.1033A>T	c.(1033-1035)Aat>Tat	p.N345Y		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	345					epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity			NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			AACCTACGTGAATGTAAATAT	0.303		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			24	59					0	0	1	0	0	T	178921551	A	T	178921551	3	4	412	1	0	0	0	0	1	0	0	0	11961	246	9	5	1047	5	PIK3CA	3	178921551	Missense_Mutation	SNP	A	TCGA-S9-A6TW-01A-12D-A32B-08	4613	178921551	19100879	9	33928											
MAP3K13	9175	broad.mit.edu	37	3	185190929	185190929	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6TW-01A-12D-A32B-08	TCGA-S9-A6TW-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17f602fa-959f-4650-bcde-43821303d338	2ec5ceb4-e857-43a2-b7be-0e7a97a37804	g.chr3:185190929G>A	ENST00000265026.3	+	11	2144	c.1810G>A	c.(1810-1812)Gca>Aca	p.A604T	MAP3K13_ENST00000424227.1_Missense_Mutation_p.A604T|MAP3K13_ENST00000535426.1_Missense_Mutation_p.A460T|MAP3K13_ENST00000446828.1_Missense_Mutation_p.A397T|MAP3K13_ENST00000443863.1_Missense_Mutation_p.A460T	NM_004721.4	NP_004712.1	O43283	M3K13_HUMAN	mitogen-activated protein kinase kinase kinase 13	604					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)			TGACTTTGCCGCAATCTTGAA	0.507													5	392					0	0	1	0	0	A	185190929	G	A	185190929	3	1	412	1	0	0	0	0	1	0	0	0	9297	1087	38	1	1848	1	MAP3K13	3	185190929	Missense_Mutation	SNP	G	TCGA-S9-A6TW-01A-12D-A32B-08	6269378	185190929	12831501	10	33929											
PCDHGA6	56109	broad.mit.edu	37	5	140754997	140754997	+	Silent	SNP	G	G	A			TCGA-S9-A6TW-01A-12D-A32B-08	TCGA-S9-A6TW-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17f602fa-959f-4650-bcde-43821303d338	2ec5ceb4-e857-43a2-b7be-0e7a97a37804	g.chr5:140754997G>A	ENST00000517434.1	+	1	1347	c.1347G>A	c.(1345-1347)ccG>ccA	p.P449P	PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1														breast(1)|large_intestine(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACGACAACCCGCCCACCTTCC	0.512													6	179					0	0	1	0	0	A	140754997	G	A	140754997	2	1	412	1	0	0	0	0	0	0	0	1	11605	1074	38	1		1	PCDHGA6	5	140754997	Silent	SNP	G	TCGA-S9-A6TW-01A-12D-A32B-08		140754997	40160263	11	33930											
JARID2	3720	broad.mit.edu	37	6	15374364	15374364	+	Missense_Mutation	SNP	T	T	G			TCGA-S9-A6TW-01A-12D-A32B-08	TCGA-S9-A6TW-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17f602fa-959f-4650-bcde-43821303d338	2ec5ceb4-e857-43a2-b7be-0e7a97a37804	g.chr6:15374364T>G	ENST00000341776.2	+	2	306	c.62T>G	c.(61-63)aTt>aGt	p.I21S	JARID2_ENST00000397311.3_De_novo_Start_InFrame	NM_004973.3	NP_004964.2	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2	21					central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent		chromatin binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				AGTGATGGGATTCCGTGGTCA	0.413													78	168					0	0	1	0	0	G	15374364	T	G	15374364	3	3	412	1	0	0	0	0	1	0	0	0	7989	1493	52	4	68	4	JARID2	6	15374364	Missense_Mutation	SNP	T	TCGA-S9-A6TW-01A-12D-A32B-08		15374364	155740703	12	33931											
TBC1D22B	55633	broad.mit.edu	37	6	37298922	37298922	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6TW-01A-12D-A32B-08	TCGA-S9-A6TW-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17f602fa-959f-4650-bcde-43821303d338	2ec5ceb4-e857-43a2-b7be-0e7a97a37804	g.chr6:37298922G>A	ENST00000373491.3	+	13	1638	c.1492G>A	c.(1492-1494)Gat>Aat	p.D498N		NM_017772.2	NP_060242.2	Q9NU19	TB22B_HUMAN	TBC1 domain family, member 22B	498						intracellular	Rab GTPase activator activity			breast(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1)	15			OV - Ovarian serous cystadenocarcinoma(102;0.241)			CATGTTTGCCGATGCCCCAAA	0.547													4	114					0	0	1	0	0	A	37298922	G	A	37298922	3	1	412	1	0	0	0	0	1	0	0	0	15669	1058	37	1	1542	1	TBC1D22B	6	37298922	Missense_Mutation	SNP	G	TCGA-S9-A6TW-01A-12D-A32B-08	21924558	37298922	133816145	13	33932											
SLC35F1	222553	broad.mit.edu	37	6	118606389	118606389	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A6TW-01A-12D-A32B-08	TCGA-S9-A6TW-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17f602fa-959f-4650-bcde-43821303d338	2ec5ceb4-e857-43a2-b7be-0e7a97a37804	g.chr6:118606389A>G	ENST00000360388.4	+	7	1091	c.890A>G	c.(889-891)tAc>tGc	p.Y297C		NM_001029858.3	NP_001025029.2	Q5T1Q4	S35F1_HUMAN	solute carrier family 35, member F1	297					transport	integral to membrane				breast(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(226;0.217)		TTTGGTCTCTACAGCTTTATG	0.507											OREG0017635	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	75	176					0	0	1	0	0	G	118606389	A	G	118606389	3	3	412	1	0	0	0	0	1	0	0	0	14643	391	14	3	916	3	SLC35F1	6	118606389	Missense_Mutation	SNP	A	TCGA-S9-A6TW-01A-12D-A32B-08	81307467	118606389	52508678	14	33933											
AHI1	54806	broad.mit.edu	37	6	135754276	135754276	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6TW-01A-12D-A32B-08	TCGA-S9-A6TW-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17f602fa-959f-4650-bcde-43821303d338	2ec5ceb4-e857-43a2-b7be-0e7a97a37804	g.chr6:135754276C>T	ENST00000367800.4	-	14	2371	c.2155G>A	c.(2155-2157)Gat>Aat	p.D719N	AHI1_ENST00000457866.2_Missense_Mutation_p.D719N|AHI1_ENST00000417892.2_Missense_Mutation_p.D73N|AHI1_ENST00000327035.6_Missense_Mutation_p.D719N	NM_001134830.1	NP_001128302.1	Q8N157	AHI1_HUMAN	Abelson helper integration site 1	719						adherens junction|cilium|microtubule basal body				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)	37	Breast(56;0.239)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)		ATCATGGAATCATAGCATCCT	0.363													25	67					0	0	1	0	0	T	135754276	C	T	135754276	3	4	412	1	0	0	0	0	1	0	0	0	410	826	29	2	1548	2	AHI1	6	135754276	Missense_Mutation	SNP	C	TCGA-S9-A6TW-01A-12D-A32B-08	17147887	135754276	35360791	15	33934											
MAD1L1	8379	broad.mit.edu	37	7	2255588	2255588	+	Silent	SNP	G	G	A			TCGA-S9-A6TW-01A-12D-A32B-08	TCGA-S9-A6TW-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17f602fa-959f-4650-bcde-43821303d338	2ec5ceb4-e857-43a2-b7be-0e7a97a37804	g.chr7:2255588G>A	ENST00000406869.1	-	9	1413	c.856C>T	c.(856-858)Ctg>Ttg	p.L286L	MAD1L1_ENST00000265854.7_Silent_p.L286L|MAD1L1_ENST00000402746.1_Silent_p.L194L|MAD1L1_ENST00000399654.2_Silent_p.L286L			Q9Y6D9	MD1L1_HUMAN	MAD1 mitotic arrest deficient-like 1 (yeast)	286					cell division|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase|mitotic prometaphase|mitotic telophase	actin cytoskeleton|centrosome|condensed chromosome kinetochore|cytosol|mitochondrion|nucleus|spindle	protein binding			central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(5)	36		Ovarian(82;0.0272)		UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14)		TTCCTCTGCAGCCCTTCCAGC	0.607													51	101					0	0	1	0	0	A	2255588	G	A	2255588	2	1	412	1	0	0	0	0	0	0	0	1	9193	962	34	2		2	MAD1L1	7	2255588	Silent	SNP	G	TCGA-S9-A6TW-01A-12D-A32B-08		2255588	156883075	16	33935											
CNOT4	4850	broad.mit.edu	37	7	135078909	135078909	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A6TW-01A-12D-A32B-08	TCGA-S9-A6TW-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17f602fa-959f-4650-bcde-43821303d338	2ec5ceb4-e857-43a2-b7be-0e7a97a37804	g.chr7:135078909T>C	ENST00000428680.2	-	10	1658	c.1379A>G	c.(1378-1380)aAt>aGt	p.N460S	CNOT4_ENST00000414802.1_Intron|CNOT4_ENST00000451834.1_Missense_Mutation_p.N460S|CNOT4_ENST00000361528.4_Missense_Mutation_p.N460S|CNOT4_ENST00000315544.5_Missense_Mutation_p.N463S|CNOT4_ENST00000541284.1_Missense_Mutation_p.N463S|CNOT4_ENST00000423368.2_Missense_Mutation_p.N463S|CNOT4_ENST00000356162.4_Intron	NM_001008225.2	NP_001008226.1	O95628	CNOT4_HUMAN	CCR4-NOT transcription complex, subunit 4	463					nuclear-transcribed mRNA poly(A) tail shortening|protein autoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	nucleotide binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	22						ATTGAGAGAATTGGCATTTGT	0.502													28	70					0	0	1	0	0	C	135078909	T	C	135078909	3	2	412	1	0	0	0	0	1	0	0	0	3644	1493	52	3	653	3	CNOT4	7	135078909	Missense_Mutation	SNP	T	TCGA-S9-A6TW-01A-12D-A32B-08	132823321	135078909	24059754	17	33936											
TPD52	7163	broad.mit.edu	37	8	80976789	80976791	+	In_Frame_Del	DEL	TCT	TCT	-			TCGA-S9-A6TW-01A-12D-A32B-08	TCGA-S9-A6TW-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17f602fa-959f-4650-bcde-43821303d338	2ec5ceb4-e857-43a2-b7be-0e7a97a37804	g.chr8:80976789_80976791delTCT	ENST00000379096.5	-	2	171_173	c.57_59delAGA	c.(55-60)gaagat>gat	p.E19del	TPD52_ENST00000517427.1_In_Frame_Del_p.E59del|TPD52_ENST00000518937.1_In_Frame_Del_p.E19del|TPD52_ENST00000448733.2_In_Frame_Del_p.E59del|TPD52_ENST00000520527.1_In_Frame_Del_p.E59del|TPD52_ENST00000537855.1_In_Frame_Del_p.E59del|TPD52_ENST00000519303.2_5'UTR|TPD52_ENST00000379097.3_In_Frame_Del_p.E59del	NM_005079.2	NP_005070.1	P55327	TPD52_HUMAN	tumor protein D52	59					anatomical structure morphogenesis|B cell differentiation|secretion	endoplasmic reticulum|perinuclear region of cytoplasm	calcium ion binding|protein heterodimerization activity|protein homodimerization activity			endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	8	all_epithelial(4;1.13e-09)|Lung NSC(7;9.71e-07)|all_lung(9;3.75e-06)	Lung NSC(129;3.55e-06)|all_lung(136;1.53e-05)|Acute lymphoblastic leukemia(644;0.158)	BRCA - Breast invasive adenocarcinoma(6;0.00181)|Epithelial(68;0.0149)|all cancers(69;0.0612)			GGCAGCAACATCTTCTCCTTCCT	0.448													39	93	---	---	---	---						-	80976791	TCT	-	80976789	7	5	412	1	0	1	0	1	0	0	0	0	16458	1435	50	0	592	0	TPD52	8	80976789	In_Frame_Del	DEL	TCT	TCGA-S9-A6TW-01A-12D-A32B-08		80976789	65387233	18	33937											
ASTN2	23245	broad.mit.edu	37	9	119249746	119249746	+	Missense_Mutation	SNP	G	G	C			TCGA-S9-A6TW-01A-12D-A32B-08	TCGA-S9-A6TW-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17f602fa-959f-4650-bcde-43821303d338	2ec5ceb4-e857-43a2-b7be-0e7a97a37804	g.chr9:119249746G>C	ENST00000313400.4	-	20	3489	c.3389C>G	c.(3388-3390)tCt>tGt	p.S1130C	ASTN2_ENST00000361477.3_Missense_Mutation_p.S182C|ASTN2_ENST00000288520.5_Missense_Mutation_p.S231C|ASTN2_ENST00000341734.4_Missense_Mutation_p.S182C|ASTN2_ENST00000373996.3_Missense_Mutation_p.S1126C|ASTN2_ENST00000361209.2_Missense_Mutation_p.S1079C			O75129	ASTN2_HUMAN	astrotactin 2	1130	Fibronectin type-III.					integral to membrane				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						GCCCAGGCCAGAGAGTAAGTC	0.512													22	39					0	0	1	0	0	C	119249746	G	C	119249746	3	2	412	1	0	0	0	0	1	0	0	0	1064	942	33	4	687	4	ASTN2	9	119249746	Missense_Mutation	SNP	G	TCGA-S9-A6TW-01A-12D-A32B-08		119249746	21963685	19	33938											
GSN	2934	broad.mit.edu	37	9	124080948	124080948	+	Silent	SNP	G	G	A	rs145170518		TCGA-S9-A6TW-01A-12D-A32B-08	TCGA-S9-A6TW-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17f602fa-959f-4650-bcde-43821303d338	2ec5ceb4-e857-43a2-b7be-0e7a97a37804	g.chr9:124080948G>A	ENST00000373823.3	+	17	1886	c.981G>A	c.(979-981)tcG>tcA	p.S327S	GSN_ENST00000394353.2_Silent_p.S338S|GSN_ENST00000373818.4_Silent_p.S378S|GSN_ENST00000436847.1_Silent_p.S338S|GSN_ENST00000449733.1_Silent_p.S327S|GSN_ENST00000373807.1_Silent_p.S109S|GSN_ENST00000545652.1_Silent_p.S335S|GSN_ENST00000412819.1_Silent_p.S327S|GSN_ENST00000341272.2_Silent_p.S327S|GSN_ENST00000373808.2_Silent_p.S327S			P06396	GELS_HUMAN	gelsolin	378					actin filament polymerization|actin filament severing|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|cilium morphogenesis	actin cytoskeleton|cytosol	actin binding|calcium ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)	21						CCCAGGTCTCGGTCCTTCCTG	0.632													7	33					0	0	1	0	0	A	124080948	G	A	124080948	2	1	412	1	0	0	0	0	0	0	0	1	6866	1103	39	1		1	GSN	9	124080948	Silent	SNP	G	TCGA-S9-A6TW-01A-12D-A32B-08	4831202	124080948	17132483	20	33939											
SURF4	6836	broad.mit.edu	37	9	136230378	136230380	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-S9-A6TW-01A-12D-A32B-08	TCGA-S9-A6TW-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17f602fa-959f-4650-bcde-43821303d338	2ec5ceb4-e857-43a2-b7be-0e7a97a37804	g.chr9:136230378_136230380delCTT	ENST00000371989.3	-	6	928_930	c.799_801delAAG	c.(799-801)aagdel	p.K267del	SURF4_ENST00000485435.2_Intron|SURF4_ENST00000545297.1_3'UTR	NM_001280788.1|NM_001280790.1|NM_001280791.1|NM_033161.2	NP_001267717.1|NP_001267719.1|NP_001267720.1|NP_149351.1	O15260	SURF4_HUMAN	surfeit 4	267						endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane	protein binding			kidney(1)|large_intestine(2)|lung(5)	8				OV - Ovarian serous cystadenocarcinoma(145;5.32e-07)|Epithelial(140;4.56e-06)|all cancers(34;4.25e-05)		GTTACCACTCCTTCTTCTTCTCA	0.547													8	50	---	---	---	---						-	136230380	CTT	-	136230378	7	5	412	1	0	1	0	1	0	0	0	0	15461	680	24	0	12	0	SURF4	9	136230378	In_Frame_Del	DEL	CTT	TCGA-S9-A6TW-01A-12D-A32B-08	12149430	136230378	4983053	21	33940											
C9orf69	90120	broad.mit.edu	37	9	139008643	139008643	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6TW-01A-12D-A32B-08	TCGA-S9-A6TW-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17f602fa-959f-4650-bcde-43821303d338	2ec5ceb4-e857-43a2-b7be-0e7a97a37804	g.chr9:139008643C>T	ENST00000561457.1	-	2	628	c.178G>A	c.(178-180)Gca>Aca	p.A60T	C9orf69_ENST00000418388.1_Missense_Mutation_p.R35H	NM_152833.2	NP_690046.3			chromosome 9 open reading frame 69											endometrium(1)	1		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;9.58e-07)|Epithelial(140;6.42e-06)		GTACTTGGTGCGGGCCAGGTG	0.657													3	46					0	0	1	0	0	T	139008643	C	T	139008643	3	4	412	1	0	0	0	0	1	0	0	0	2510	768	27	1	233	1	C9orf69	9	139008643	Missense_Mutation	SNP	C	TCGA-S9-A6TW-01A-12D-A32B-08	2778265	139008643	2204788	22	33941											
CUBN	8029	broad.mit.edu	37	10	17142012	17142012	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A6TW-01A-12D-A32B-08	TCGA-S9-A6TW-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17f602fa-959f-4650-bcde-43821303d338	2ec5ceb4-e857-43a2-b7be-0e7a97a37804	g.chr10:17142012T>C	ENST00000377833.4	-	14	1822	c.1757A>G	c.(1756-1758)cAg>cGg	p.Q586R		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	586	CUB 1.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	ACCTGGTTGCTGTGTTTCCCA	0.378													44	130					0	0	1	0	0	C	17142012	T	C	17142012	3	2	412	1	0	0	0	0	1	0	0	0	4074	1580	55	3	9330	3	CUBN	10	17142012	Missense_Mutation	SNP	T	TCGA-S9-A6TW-01A-12D-A32B-08		17142012	118392735	23	33942											
PTEN	5728	broad.mit.edu	37	10	89717661	89717661	+	Nonsense_Mutation	SNP	C	C	G			TCGA-S9-A6TW-01A-12D-A32B-08	TCGA-S9-A6TW-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17f602fa-959f-4650-bcde-43821303d338	2ec5ceb4-e857-43a2-b7be-0e7a97a37804	g.chr10:89717661C>G	ENST00000371953.3	+	7	2043	c.686C>G	c.(685-687)tCa>tGa	p.S229*	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	229	C2 tensin-type.				activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.S229*(6)|p.R55fs*1(5)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G165_*404del(1)|p.?(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TCCTCCAATTCAGGACCCACA	0.423		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			12	96					0	0	1	0	0	G	89717661	C	G	89717661	4	3	412	1	0	0	0	0	0	1	0	0	12787	838	29	5	712	5	PTEN	10	89717661	Nonsense_Mutation	SNP	C	TCGA-S9-A6TW-01A-12D-A32B-08	72575649	89717661	45817086	24	33943											
CWF19L1	55280	broad.mit.edu	37	10	101996663	101996663	+	Missense_Mutation	SNP	C	C	A			TCGA-S9-A6TW-01A-12D-A32B-08	TCGA-S9-A6TW-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17f602fa-959f-4650-bcde-43821303d338	2ec5ceb4-e857-43a2-b7be-0e7a97a37804	g.chr10:101996663C>A	ENST00000354105.4	-	12	1404	c.1318G>T	c.(1318-1320)Gca>Tca	p.A440S	CWF19L1_ENST00000478047.1_5'UTR|CWF19L1_ENST00000370379.1_Intron	NM_018294.4	NP_060764.3	Q69YN2	C19L1_HUMAN	CWF19-like 1, cell cycle control (S. pombe)	440							catalytic activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|stomach(2)	17		Colorectal(252;0.117)		Epithelial(162;3.78e-10)|all cancers(201;3.1e-08)		TGCTCCTGTGCCTGGGTAATG	0.483													4	172					0.150653	0.150653	1	1	0	A	101996663	C	A	101996663	3	1	412	1	0	0	0	0	1	0	0	0	4094	739	26	5	310	5	CWF19L1	10	101996663	Missense_Mutation	SNP	C	TCGA-S9-A6TW-01A-12D-A32B-08	12279002	101996663	33538084	25	33944											
OR51B5	282763	broad.mit.edu	37	11	5364396	5364396	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6TW-01A-12D-A32B-08	TCGA-S9-A6TW-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17f602fa-959f-4650-bcde-43821303d338	2ec5ceb4-e857-43a2-b7be-0e7a97a37804	g.chr11:5364396C>T	ENST00000300773.2	-	1	413	c.359G>A	c.(358-360)cGt>cAt	p.R120H	AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron	NM_001005567.2	NP_001005567.2	Q9H339	O51B5_HUMAN	olfactory receptor, family 51, subfamily B, member 5	120					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	28		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.05e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGCAATAAAACGGTCATAGGC	0.473													35	39					0	0	1	0	0	T	5364396	C	T	5364396	3	4	412	1	0	0	0	0	1	0	0	0	11139	536	19	1	583	1	OR51B5	11	5364396	Missense_Mutation	SNP	C	TCGA-S9-A6TW-01A-12D-A32B-08		5364396	129642120	26	33945											
FERMT3	83706	broad.mit.edu	37	11	63988554	63988554	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6TW-01A-12D-A32B-08	TCGA-S9-A6TW-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17f602fa-959f-4650-bcde-43821303d338	2ec5ceb4-e857-43a2-b7be-0e7a97a37804	g.chr11:63988554C>T	ENST00000279227.5	+	13	1719	c.1624C>T	c.(1624-1626)Cgc>Tgc	p.R542C	FERMT3_ENST00000345728.5_Missense_Mutation_p.R538C	NM_178443.2	NP_848537.1	Q86UX7	URP2_HUMAN	fermitin family member 3	542	FERM.				integrin activation|leukocyte cell-cell adhesion|platelet aggregation|regulation of cell-cell adhesion mediated by integrin	cell junction|cell projection|podosome	integrin binding	p.R538C(1)|p.R542C(1)		breast(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	18						GGCCCAGCTGCGCTTCATCCA	0.662													42	65					0	0	1	0	0	T	63988554	C	T	63988554	3	4	412	1	0	0	0	0	1	0	0	0	5852	768	27	1	1670	1	FERMT3	11	63988554	Missense_Mutation	SNP	C	TCGA-S9-A6TW-01A-12D-A32B-08	58624158	63988554	71017962	27	33946											
GUCY2C	2984	broad.mit.edu	37	12	14804947	14804947	+	Silent	SNP	A	A	G			TCGA-S9-A6TW-01A-12D-A32B-08	TCGA-S9-A6TW-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17f602fa-959f-4650-bcde-43821303d338	2ec5ceb4-e857-43a2-b7be-0e7a97a37804	g.chr12:14804947A>G	ENST00000261170.3	-	14	1687	c.1551T>C	c.(1549-1551)gaT>gaC	p.D517D		NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)	517	Protein kinase.				intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51						TGTGCTTGAGATCTTTGAGAA	0.348													19	55					0	0	1	0	0	G	14804947	A	G	14804947	2	3	412	1	0	0	0	0	0	0	0	1	6937	330	12	3		3	GUCY2C	12	14804947	Silent	SNP	A	TCGA-S9-A6TW-01A-12D-A32B-08		14804947	119046948	28	33947											
PPM1H	57460	broad.mit.edu	37	12	63195840	63195840	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6TW-01A-12D-A32B-08	TCGA-S9-A6TW-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17f602fa-959f-4650-bcde-43821303d338	2ec5ceb4-e857-43a2-b7be-0e7a97a37804	g.chr12:63195840G>A	ENST00000228705.6	-	3	812	c.512C>T	c.(511-513)aCg>aTg	p.T171M		NM_020700.1	NP_065751.1	Q9ULR3	PPM1H_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1H	171	PP2C-like.						phosphoprotein phosphatase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)	18			GBM - Glioblastoma multiforme(1;0.000443)|BRCA - Breast invasive adenocarcinoma(9;0.209)	GBM - Glioblastoma multiforme(28;0.0126)		CAGCTGCTCCGTGATGTGGTG	0.667													16	42					0	0	1	0	0	A	63195840	G	A	63195840	3	1	412	1	0	0	0	0	1	0	0	0	12390	1145	40	1	1064	1	PPM1H	12	63195840	Missense_Mutation	SNP	G	TCGA-S9-A6TW-01A-12D-A32B-08	48390893	63195840	70656055	29	33948											
ADCY4	196883	broad.mit.edu	37	14	24791834	24791834	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6TW-01A-12D-A32B-08	TCGA-S9-A6TW-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17f602fa-959f-4650-bcde-43821303d338	2ec5ceb4-e857-43a2-b7be-0e7a97a37804	g.chr14:24791834C>T	ENST00000310677.4	-	20	2536	c.2423G>A	c.(2422-2424)cGc>cAc	p.R808H	ADCY4_ENST00000554068.2_Missense_Mutation_p.R808H|ADCY4_ENST00000418030.2_Missense_Mutation_p.R808H	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	808					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding|protein binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(265;0.0192)		ACTTACCTGGCGAGCCAGGAC	0.557													14	21					0	0	1	0	0	T	24791834	C	T	24791834	3	4	412	1	0	0	0	0	1	0	0	0	295	768	27	1	838	1	ADCY4	14	24791834	Missense_Mutation	SNP	C	TCGA-S9-A6TW-01A-12D-A32B-08		24791834	82557706	30	33949											
THSD4	79875	broad.mit.edu	37	15	72020942	72020942	+	Missense_Mutation	SNP	G	G	T			TCGA-S9-A6TW-01A-12D-A32B-08	TCGA-S9-A6TW-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17f602fa-959f-4650-bcde-43821303d338	2ec5ceb4-e857-43a2-b7be-0e7a97a37804	g.chr15:72020942G>T	ENST00000355327.3	+	9	1546	c.1412G>T	c.(1411-1413)cGa>cTa	p.R471L	THSD4_ENST00000567838.1_3'UTR|THSD4_ENST00000357769.4_Missense_Mutation_p.R111L|THSD4_ENST00000261862.6_Missense_Mutation_p.R471L			Q6ZMP0	THSD4_HUMAN	thrombospondin, type I, domain containing 4	471						proteinaceous extracellular matrix	metalloendopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						GCAATTGATCGACCAGGAAAA	0.527													14	118					4.93089e-13	5.25247e-13	1	1	0	T	72020942	G	T	72020942	3	4	412	1	0	0	0	0	1	0	0	0	15938	1058	37	5	1442	5	THSD4	15	72020942	Missense_Mutation	SNP	G	TCGA-S9-A6TW-01A-12D-A32B-08		72020942	30510450	31	33950											
PPL	5493	broad.mit.edu	37	16	4934534	4934534	+	Silent	SNP	G	G	A			TCGA-S9-A6TW-01A-12D-A32B-08	TCGA-S9-A6TW-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17f602fa-959f-4650-bcde-43821303d338	2ec5ceb4-e857-43a2-b7be-0e7a97a37804	g.chr16:4934534G>A	ENST00000345988.2	-	22	4211	c.4122C>T	c.(4120-4122)agC>agT	p.S1374S	PPL_ENST00000590782.2_Silent_p.S1372S	NM_002705.4	NP_002696	O60437	PEPL_HUMAN	periplakin	1374					keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						CCACATCGATGCTCTCGGCAA	0.677													5	206					0	0	1	0	0	A	4934534	G	A	4934534	2	1	412	1	0	0	0	0	0	0	0	1	12383	1310	46	2		2	PPL	16	4934534	Silent	SNP	G	TCGA-S9-A6TW-01A-12D-A32B-08		4934534	85420219	32	33951											
MYH10	4628	broad.mit.edu	37	17	8526520	8526521	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-S9-A6TW-01A-12D-A32B-08	TCGA-S9-A6TW-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17f602fa-959f-4650-bcde-43821303d338	2ec5ceb4-e857-43a2-b7be-0e7a97a37804	g.chr17:8526520_8526521delAA	ENST00000360416.3	-	2	182_183	c.44_45delTT	c.(43-45)tttfs	p.F15fs	MYH10_ENST00000379980.4_Frame_Shift_Del_p.F15fs|MYH10_ENST00000396239.1_Frame_Shift_Del_p.F15fs|MYH10_ENST00000269243.4_Frame_Shift_Del_p.F15fs	NM_001256012.1	NP_001242941.1	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	15	Myosin head-like.				actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						CCCTGTCCACAAAGAGATACCT	0.48													25	92	---	---	---	---						-	8526521	AA	-	8526520	7	5	412	1	0	1	0	1	0	0	0	0	10078	127	5	0	6045	0	MYH10	17	8526520	Frame_Shift_Del	DEL	AA	TCGA-S9-A6TW-01A-12D-A32B-08		8526520	72668690	33	33952											
CD300LD	100131439	broad.mit.edu	37	17	72576247	72576247	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6TW-01A-12D-A32B-08	TCGA-S9-A6TW-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17f602fa-959f-4650-bcde-43821303d338	2ec5ceb4-e857-43a2-b7be-0e7a97a37804	g.chr17:72576247G>A	ENST00000375352.1	-	4	559	c.479C>T	c.(478-480)cCg>cTg	p.P160L		NM_001115152.1	NP_001108624.1	Q6UXZ3	CLM4_HUMAN	CD300 molecule-like family member d	160						integral to membrane|plasma membrane	receptor activity			large_intestine(1)|lung(2)|prostate(1)|stomach(1)	5						GCTCTTGAGCGGGGACCTGTG	0.572													3	13					0	0	1	0	0	A	72576247	G	A	72576247	3	1	412	1	0	0	0	0	1	0	0	0	3022	1116	39	1	109	1	CD300LD	17	72576247	Missense_Mutation	SNP	G	TCGA-S9-A6TW-01A-12D-A32B-08	64049727	72576247	8618963	34	33953											
THEG	51298	broad.mit.edu	37	19	367082	367082	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6TW-01A-12D-A32B-08	TCGA-S9-A6TW-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17f602fa-959f-4650-bcde-43821303d338	2ec5ceb4-e857-43a2-b7be-0e7a97a37804	g.chr19:367082C>T	ENST00000342640.4	-	7	938	c.896G>A	c.(895-897)cGc>cAc	p.R299H	THEG_ENST00000346878.2_Missense_Mutation_p.R275H	NM_016585.4	NP_057669.1	Q9P2T0	THEG_HUMAN	theg spermatid protein	299					cell differentiation|chaperone-mediated protein complex assembly|multicellular organismal development|spermatogenesis	nucleus	protein binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)|soft_tissue(1)	29		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)		GTGAAGGAGGCGGTTATGGTC	0.572													41	114					0	0	1	0	0	T	367082	C	T	367082	3	4	412	1	0	0	0	0	1	0	0	0	15917	768	27	1	251	1	THEG	19	367082	Missense_Mutation	SNP	C	TCGA-S9-A6TW-01A-12D-A32B-08		367082	58761901	35	33954											
CIC	23152	broad.mit.edu	37	19	42791390	42791391	+	Frame_Shift_Ins	INS	-	-	G			TCGA-S9-A6TW-01A-12D-A32B-08	TCGA-S9-A6TW-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17f602fa-959f-4650-bcde-43821303d338	2ec5ceb4-e857-43a2-b7be-0e7a97a37804	g.chr19:42791390_42791391insG	ENST00000572681.2	+	4	3245_3246	c.3177_3178insG	c.(3178-3180)gccfs	p.A1060fs	CIC_ENST00000575354.2_Frame_Shift_Ins_p.A151fs|CIC_ENST00000160740.3_Frame_Shift_Ins_p.A151fs			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	151	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				ACCATGATGATGCGTGAGTTCC	0.649			"Mis, F, S"		oligodendroglioma								13	7	---	---	---	---						G	42791391	-	G	42791390	7	5	412	1	0	1	1	0	0	0	0	0	3446	1461	51	0	460	0	CIC	19	42791390	Frame_Shift_Ins	INS	-	TCGA-S9-A6TW-01A-12D-A32B-08	42424308	42791390	16337593	36	33955											
SIGLEC12	89858	broad.mit.edu	37	19	51995064	51995064	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6TW-01A-12D-A32B-08	TCGA-S9-A6TW-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17f602fa-959f-4650-bcde-43821303d338	2ec5ceb4-e857-43a2-b7be-0e7a97a37804	g.chr19:51995064G>A	ENST00000291707.3	-	8	1674	c.1619C>T	c.(1618-1620)cCg>cTg	p.P540L	SIGLEC12_ENST00000598614.1_Missense_Mutation_p.P422L	NM_053003.2	NP_443729.1	Q96PQ1	SIG12_HUMAN	sialic acid binding Ig-like lectin 12 (gene/pseudogene)	540					cell adhesion	integral to membrane	sugar binding			NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)	61		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)		GTCATCTGCCGGGGATTCAAT	0.622													11	11					0	0	1	0	0	A	51995064	G	A	51995064	3	1	412	1	0	0	0	0	1	0	0	0	14363	1116	39	1	172	1	SIGLEC12	19	51995064	Missense_Mutation	SNP	G	TCGA-S9-A6TW-01A-12D-A32B-08	9203674	51995064	7133919	37	33956											
ZNF175	7728	broad.mit.edu	37	19	52090031	52090031	+	Missense_Mutation	SNP	G	G	T			TCGA-S9-A6TW-01A-12D-A32B-08	TCGA-S9-A6TW-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17f602fa-959f-4650-bcde-43821303d338	2ec5ceb4-e857-43a2-b7be-0e7a97a37804	g.chr19:52090031G>T	ENST00000262259.2	+	5	805	c.447G>T	c.(445-447)gaG>gaT	p.E149D	ZNF175_ENST00000436511.2_Intron	NM_007147.2	NP_009078.1	Q9Y473	ZN175_HUMAN	zinc finger protein 175	149					response to virus	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000426)|OV - Ovarian serous cystadenocarcinoma(262;0.0257)		AGAAAGATGAGCAAAATCAAA	0.393													3	37					0.115264	0.117665	1	1	0	T	52090031	G	T	52090031	3	4	412	1	0	0	0	0	1	0	0	0	17803	962	34	4	461	4	ZNF175	19	52090031	Missense_Mutation	SNP	G	TCGA-S9-A6TW-01A-12D-A32B-08	94967	52090031	7038952	38	33957											
PIGU	128869	broad.mit.edu	37	20	33225719	33225719	+	Frame_Shift_Del	DEL	G	G	-	rs142228998		TCGA-S9-A6TW-01A-12D-A32B-08	TCGA-S9-A6TW-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17f602fa-959f-4650-bcde-43821303d338	2ec5ceb4-e857-43a2-b7be-0e7a97a37804	g.chr20:33225719delG	ENST00000374820.2	-	4	349	c.329delC	c.(328-330)cctfs	p.P110fs	PIGU_ENST00000452740.2_Frame_Shift_Del_p.P130fs			Q9H490	PIGU_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class U	130					attachment of GPI anchor to protein|C-terminal protein lipidation|regulation of JAK-STAT cascade	GPI-anchor transamidase complex|plasma membrane				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(1)|skin(1)	9						CATTTCCATAGGGGTCCGGAT	0.423													37	71	---	---	---	---						-	33225719	G	-	33225719	7	5	412	1	0	1	0	1	0	0	0	0	11948	1000	35	0	950	0	PIGU	20	33225719	Frame_Shift_Del	DEL	G	TCGA-S9-A6TW-01A-12D-A32B-08		33225719	29799801	39	33958											
BCORL1	63035	broad.mit.edu	37	X	129149824	129149824	+	Missense_Mutation	SNP	G	G	T			TCGA-S9-A6TW-01A-12D-A32B-08	TCGA-S9-A6TW-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17f602fa-959f-4650-bcde-43821303d338	2ec5ceb4-e857-43a2-b7be-0e7a97a37804	g.chrX:129149824G>T	ENST00000540052.1	+	3	3120	c.3076G>T	c.(3076-3078)Gtt>Ttt	p.V1026F	BCORL1_ENST00000303743.5_Missense_Mutation_p.V1026F|BCORL1_ENST00000218147.7_Missense_Mutation_p.V1026F|BCORL1_ENST00000359304.2_Missense_Mutation_p.V1026F	NM_021946.4	NP_068765	Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	1026					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						ATTGGACGTGGTTCCGAGCAG	0.592													27	22					2.79863e-10	2.91772e-10	1	1	0	T	129149824	G	T	129149824	3	4	412	1	0	0	0	0	1	0	0	0	1385	1261	44	5	3086	5	BCORL1	23	129149824	Missense_Mutation	SNP	G	TCGA-S9-A6TW-01A-12D-A32B-08		129149824	26120736	40	33959											
RNF19B	127544	broad.mit.edu	37	1	33411115	33411115	+	Splice_Site	SNP	C	C	T			TCGA-S9-A6TX-01A-21D-A32B-08	TCGA-S9-A6TX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021bf1e7-5402-4760-8483-90da0f9656f7	c3c498b4-dc24-4a01-979b-e3a01156d4ee	g.chr1:33411115C>T	ENST00000356990.5	-	5	1260	c.1261G>A	c.(1261-1263)Ggt>Agt	p.G421S	RNF19B_ENST00000373456.7_Splice_Site_p.G422S|RNF19B_ENST00000235150.4_Splice_Site_p.G421S	NM_001127361.1	NP_001120833.1	Q6ZMZ0	RN19B_HUMAN	ring finger protein 19B	422						integral to membrane	ligase activity|protein binding|zinc ion binding	p.G231C(1)|p.G421C(1)		endometrium(4)|kidney(2)|large_intestine(3)|lung(4)	13		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				ACTAGCTTACCAACACTAACT	0.463													12	13					0	0	1	0	0	T	33411115	C	T	33411115	5	4	413	1	0	0	0	0	0	0	1	0	13523	608	21	2	980	2	RNF19B	1	33411115	Splice_Site	SNP	C	TCGA-S9-A6TX-01A-21D-A32B-08		33411115	215839506	1	33960											
ZMYND12	84217	broad.mit.edu	37	1	42905687	42905687	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6TX-01A-21D-A32B-08	TCGA-S9-A6TX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021bf1e7-5402-4760-8483-90da0f9656f7	c3c498b4-dc24-4a01-979b-e3a01156d4ee	g.chr1:42905687C>T	ENST00000372565.3	-	4	703	c.434G>A	c.(433-435)cGa>cAa	p.R145Q	ZMYND12_ENST00000433602.2_Missense_Mutation_p.R35Q	NM_032257.4	NP_115633.3	Q9H0C1	ZMY12_HUMAN	zinc finger, MYND-type containing 12	145						intracellular	zinc ion binding			NS(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|skin(2)	17	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CTGAACGATTCGGCCCAGACC	0.433													29	13					0	0	1	0	0	T	42905687	C	T	42905687	3	4	413	1	0	0	0	0	1	0	0	0	17765	884	31	1	683	1	ZMYND12	1	42905687	Missense_Mutation	SNP	C	TCGA-S9-A6TX-01A-21D-A32B-08	9494572	42905687	206344934	2	33961											
MED8	112950	broad.mit.edu	37	1	43850142	43850143	+	Frame_Shift_Ins	INS	-	-	T			TCGA-S9-A6TX-01A-21D-A32B-08	TCGA-S9-A6TX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021bf1e7-5402-4760-8483-90da0f9656f7	c3c498b4-dc24-4a01-979b-e3a01156d4ee	g.chr1:43850142_43850143insT	ENST00000290663.6	-	8	927_928	c.884_885insA	c.(883-885)aatfs	p.N295fs	MED8_ENST00000372457.4_3'UTR	NM_052877.3	NP_443109.2	Q96G25	MED8_HUMAN	mediator complex subunit 8	0					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				endometrium(2)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	9	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GCAGGTGGGCATTTTTTTTTCC	0.51													3	3	---	---	---	---						T	43850143	-	T	43850142	7	5	413	1	0	1	1	0	0	0	0	0	9503	214	8	0	24	0	MED8	1	43850142	Frame_Shift_Ins	INS	-	TCGA-S9-A6TX-01A-21D-A32B-08	944455	43850142	205400479	3	33962											
FUBP1	8880	broad.mit.edu	37	1	78425910	78425910	+	Frame_Shift_Del	DEL	T	T	-			TCGA-S9-A6TX-01A-21D-A32B-08	TCGA-S9-A6TX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021bf1e7-5402-4760-8483-90da0f9656f7	c3c498b4-dc24-4a01-979b-e3a01156d4ee	g.chr1:78425910delT	ENST00000370767.1	-	16	1622	c.1535delA	c.(1534-1536)aatfs	p.N512fs	FUBP1_ENST00000370768.2_Frame_Shift_Del_p.N512fs|FUBP1_ENST00000436586.2_Frame_Shift_Del_p.N533fs			Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1	512	Pro-rich.				transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						TGGATATGCATTTCCCCATCC	0.438			"F, N"		oligodendroglioma								25	13	---	---	---	---						-	78425910	T	-	78425910	7	5	413	1	0	1	0	1	0	0	0	0	6127	1493	52	0	419	0	FUBP1	1	78425910	Frame_Shift_Del	DEL	T	TCGA-S9-A6TX-01A-21D-A32B-08	34575768	78425910	170824711	4	33963											
HRNR	388697	broad.mit.edu	37	1	152188128	152188128	+	Nonsense_Mutation	SNP	G	G	A			TCGA-S9-A6TX-01A-21D-A32B-08	TCGA-S9-A6TX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021bf1e7-5402-4760-8483-90da0f9656f7	c3c498b4-dc24-4a01-979b-e3a01156d4ee	g.chr1:152188128G>A	ENST00000368801.2	-	3	6052	c.5977C>T	c.(5977-5979)Cga>Tga	p.R1993*	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	1993					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CGAGACTCTCGGTGACCTAAG	0.572													8	484					0	0	1	0	0	A	152188128	G	A	152188128	4	1	413	1	0	0	0	0	0	1	0	0	7400	1124	39	1	2579	1	HRNR	1	152188128	Nonsense_Mutation	SNP	G	TCGA-S9-A6TX-01A-21D-A32B-08	73762218	152188128	97062493	5	33964											
LY9	4063	broad.mit.edu	37	1	160788073	160788073	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A6TX-01A-21D-A32B-08	TCGA-S9-A6TX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021bf1e7-5402-4760-8483-90da0f9656f7	c3c498b4-dc24-4a01-979b-e3a01156d4ee	g.chr1:160788073A>G	ENST00000368037.5	+	6	1522	c.1408A>G	c.(1408-1410)Atc>Gtc	p.I470V	LY9_ENST00000368040.1_Missense_Mutation_p.I122V|LY9_ENST00000392203.4_Missense_Mutation_p.I380V|LY9_ENST00000341032.4_Missense_Mutation_p.I380V|LY9_ENST00000368041.2_Missense_Mutation_p.I340V|LY9_ENST00000263285.6_Missense_Mutation_p.I470V	NM_001261456.1|NM_002348.3	NP_001248385.1|NP_002339.2	Q9HBG7	LY9_HUMAN	lymphocyte antigen 9						cell adhesion|immunoglobulin mediated immune response	integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			GTGCGTTGGGATCTTCAGCTG	0.478													5	100					0	0	1	0	0	G	160788073	A	G	160788073	3	3	413	1	0	0	0	0	1	0	0	0	9147	333	12	3	1562	3	LY9	1	160788073	Missense_Mutation	SNP	A	TCGA-S9-A6TX-01A-21D-A32B-08	8599945	160788073	88462548	6	33965											
NLRC4	58484	broad.mit.edu	37	2	32476004	32476004	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6TX-01A-21D-A32B-08	TCGA-S9-A6TX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021bf1e7-5402-4760-8483-90da0f9656f7	c3c498b4-dc24-4a01-979b-e3a01156d4ee	g.chr2:32476004C>T	ENST00000404025.2	-	5	1417	c.929G>A	c.(928-930)cGa>cAa	p.R310Q	NLRC4_ENST00000342905.6_Intron|NLRC4_ENST00000402280.1_Missense_Mutation_p.R310Q|NLRC4_ENST00000360906.5_Missense_Mutation_p.R310Q			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	310	NACHT.				activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					CAGCACTTCTCGGATGAGAGC	0.532													4	66					0	0	1	0	0	T	32476004	C	T	32476004	3	4	413	1	0	0	0	0	1	0	0	0	10516	884	31	1	2169	1	NLRC4	2	32476004	Missense_Mutation	SNP	C	TCGA-S9-A6TX-01A-21D-A32B-08		32476004	210723369	7	33966											
NAT8	9027	broad.mit.edu	37	2	73868602	73868602	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6TX-01A-21D-A32B-08	TCGA-S9-A6TX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021bf1e7-5402-4760-8483-90da0f9656f7	c3c498b4-dc24-4a01-979b-e3a01156d4ee	g.chr2:73868602C>T	ENST00000272425.3	-	2	303	c.154G>A	c.(154-156)Gcc>Acc	p.A52T		NM_003960.3|NM_016347.2	NP_003951.3|NP_057431.2	Q9UHE5	NAT8_HUMAN	N-acetyltransferase 8 (GCN5-related, putative)	52					gastrulation with mouth forming second|response to drug	integral to membrane	N-acetyltransferase activity			breast(1)|endometrium(2)|kidney(2)|lung(2)|ovary(1)|prostate(1)	9						AGGAGTAGGGCGAGGGGCCCC	0.612													38	52					0	0	1	0	0	T	73868602	C	T	73868602	3	4	413	1	0	0	0	0	1	0	0	0	10227	768	27	1	533	1	NAT8	2	73868602	Missense_Mutation	SNP	C	TCGA-S9-A6TX-01A-21D-A32B-08	41392598	73868602	169330771	8	33967											
TTC30B	150737	broad.mit.edu	37	2	178417025	178417025	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6TX-01A-21D-A32B-08	TCGA-S9-A6TX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021bf1e7-5402-4760-8483-90da0f9656f7	c3c498b4-dc24-4a01-979b-e3a01156d4ee	g.chr2:178417025C>T	ENST00000408939.3	-	1	717	c.467G>A	c.(466-468)gGc>gAc	p.G156D		NM_152517.2	NP_689730.2	Q8N4P2	TT30B_HUMAN	tetratricopeptide repeat domain 30B						cell projection organization	cilium	binding			cervix(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	23			OV - Ovarian serous cystadenocarcinoma(117;0.00151)|Epithelial(96;0.00931)|all cancers(119;0.0362)			GTTGATCTGGCCATCGGTCTC	0.592													6	277					0	0	1	0	0	T	178417025	C	T	178417025	3	4	413	1	0	0	0	0	1	0	0	0	16761	739	26	2	1534	2	TTC30B	2	178417025	Missense_Mutation	SNP	C	TCGA-S9-A6TX-01A-21D-A32B-08	104548423	178417025	64782348	9	33968											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-S9-A6TX-01A-21D-A32B-08	TCGA-S9-A6TX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021bf1e7-5402-4760-8483-90da0f9656f7	c3c498b4-dc24-4a01-979b-e3a01156d4ee	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								25	36					0	0	1	0	0	T	209113112	C	T	209113112	3	4	413	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-S9-A6TX-01A-21D-A32B-08	30696087	209113112	34086261	10	33969											
SP140L	93349	broad.mit.edu	37	2	231249985	231249985	+	Silent	SNP	G	G	A			TCGA-S9-A6TX-01A-21D-A32B-08	TCGA-S9-A6TX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021bf1e7-5402-4760-8483-90da0f9656f7	c3c498b4-dc24-4a01-979b-e3a01156d4ee	g.chr2:231249985G>A	ENST00000243810.6	+	9	750	c.750G>A	c.(748-750)gcG>gcA	p.A250A	SP140L_ENST00000415673.2_Silent_p.A250A|SP140L_ENST00000396563.4_Silent_p.A250A|SP140L_ENST00000444636.1_Silent_p.A250A			Q9H930	LY10L_HUMAN	SP140 nuclear body protein-like	250						nucleus	DNA binding|metal ion binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|skin(1)	20						AAAAGAAGGCGAACATGAATC	0.448													23	32					0	0	1	0	0	A	231249985	G	A	231249985	2	1	413	1	0	0	0	0	0	0	0	1	15017	1045	37	1		1	SP140L	2	231249985	Silent	SNP	G	TCGA-S9-A6TX-01A-21D-A32B-08	22136873	231249985	11949388	11	33970											
IQCA1	79781	broad.mit.edu	37	2	237240097	237240097	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6TX-01A-21D-A32B-08	TCGA-S9-A6TX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021bf1e7-5402-4760-8483-90da0f9656f7	c3c498b4-dc24-4a01-979b-e3a01156d4ee	g.chr2:237240097G>A	ENST00000409907.3	-	18	2552	c.2278C>T	c.(2278-2280)Cgg>Tgg	p.R760W	IQCA1_ENST00000309507.5_Missense_Mutation_p.R757W|IQCA1_ENST00000431676.2_Missense_Mutation_p.R719W	NM_024726.4	NP_079002.3	Q86XH1	IQCA1_HUMAN	IQ motif containing with AAA domain 1	760							ATP binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)	26						ATTTGCCGCCGGATTCTCTGA	0.473													7	121					0	0	1	0	0	A	237240097	G	A	237240097	3	1	413	1	0	0	0	0	1	0	0	0	7846	1115	39	1	198	1	IQCA1	2	237240097	Missense_Mutation	SNP	G	TCGA-S9-A6TX-01A-21D-A32B-08	5990112	237240097	5959276	12	33971											
CTNNB1	1499	broad.mit.edu	37	3	41268826	41268826	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6TX-01A-21D-A32B-08	TCGA-S9-A6TX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021bf1e7-5402-4760-8483-90da0f9656f7	c3c498b4-dc24-4a01-979b-e3a01156d4ee	g.chr3:41268826C>T	ENST00000349496.5	+	7	1344	c.1064C>T	c.(1063-1065)cCg>cTg	p.P355L	CTNNB1_ENST00000453024.1_Missense_Mutation_p.P348L|CTNNB1_ENST00000396185.3_Missense_Mutation_p.P355L|CTNNB1_ENST00000396183.3_Missense_Mutation_p.P355L|CTNNB1_ENST00000405570.1_Missense_Mutation_p.P355L	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	355					adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens	alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding		CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	Lithium(DB01356)	AGTAATAAGCCGGCTATTGTA	0.378		15	"H, Mis, T"	PLAG1	"colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"				Pilomatrixoma, Familial Clustering of				24	35					0	0	1	0	0	T	41268826	C	T	41268826	3	4	413	1	0	0	0	0	1	0	0	0	4040	652	23	1	1086	1	CTNNB1	3	41268826	Missense_Mutation	SNP	C	TCGA-S9-A6TX-01A-21D-A32B-08		41268826	156753604	13	33972											
ATP8A1	10396	broad.mit.edu	37	4	42524203	42524203	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6TX-01A-21D-A32B-08	TCGA-S9-A6TX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021bf1e7-5402-4760-8483-90da0f9656f7	c3c498b4-dc24-4a01-979b-e3a01156d4ee	g.chr4:42524203C>T	ENST00000381668.5	-	22	2152	c.1921G>A	c.(1921-1923)Gaa>Aaa	p.E641K	ATP8A1_ENST00000264449.10_Missense_Mutation_p.E626K	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	641					ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	TAACTCTCTTCGAGTTTGAGT	0.428													3	39					0	0	1	0	0	T	42524203	C	T	42524203	3	4	413	1	0	0	0	0	1	0	0	0	1190	893	31	1	1637	1	ATP8A1	4	42524203	Missense_Mutation	SNP	C	TCGA-S9-A6TX-01A-21D-A32B-08		42524203	148630073	14	33973											
ANKRD17	26057	broad.mit.edu	37	4	74000833	74000833	+	Splice_Site	SNP	C	C	T			TCGA-S9-A6TX-01A-21D-A32B-08	TCGA-S9-A6TX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021bf1e7-5402-4760-8483-90da0f9656f7	c3c498b4-dc24-4a01-979b-e3a01156d4ee	g.chr4:74000833C>T	ENST00000358602.4	-	16	3351		c.e16+1		ANKRD17_ENST00000509867.2_Splice_Site|ANKRD17_ENST00000514252.1_Splice_Site|ANKRD17_ENST00000330838.6_Splice_Site	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17						interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TTGGGACTTACCTGTGCATCA	0.393													29	36					0	0	1	0	0	T	74000833	C	T	74000833	5	4	413	1	0	0	0	0	0	0	1	0	642	521	18	2	4652	2	ANKRD17	4	74000833	Splice_Site	SNP	C	TCGA-S9-A6TX-01A-21D-A32B-08	31476630	74000833	117153443	15	33974											
RAP1GDS1	5910	broad.mit.edu	37	4	99338034	99338034	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A6TX-01A-21D-A32B-08	TCGA-S9-A6TX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021bf1e7-5402-4760-8483-90da0f9656f7	c3c498b4-dc24-4a01-979b-e3a01156d4ee	g.chr4:99338034T>C	ENST00000408927.3	+	8	1015	c.902T>C	c.(901-903)cTt>cCt	p.L301P	RAP1GDS1_ENST00000339360.5_Missense_Mutation_p.L302P|RAP1GDS1_ENST00000264572.7_Missense_Mutation_p.L210P|RAP1GDS1_ENST00000408900.3_Missense_Mutation_p.L252P|RAP1GDS1_ENST00000380158.4_Missense_Mutation_p.L253P|RAP1GDS1_ENST00000453712.2_Missense_Mutation_p.L302P	NM_001100426.1|NM_001100427.1|NM_021159.4	NP_001093896.1|NP_001093897.1|NP_066982.3	P52306	GDS1_HUMAN	RAP1, GTP-GDP dissociation stimulator 1	301							binding|GTPase activator activity			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)	28				OV - Ovarian serous cystadenocarcinoma(123;2.9e-07)|LUSC - Lung squamous cell carcinoma(1;0.0253)|Lung(1;0.0576)		TTATTACTTCTTGGAGGTGAG	0.348			T	NUP98	T-ALL								6	90					0	0	1	0	0	C	99338034	T	C	99338034	3	2	413	1	0	0	0	0	1	0	0	0	13091	1609	56	3	935	3	RAP1GDS1	4	99338034	Missense_Mutation	SNP	T	TCGA-S9-A6TX-01A-21D-A32B-08	25337201	99338034	91816242	16	33975											
KIF13A	63971	broad.mit.edu	37	6	17852203	17852203	+	Frame_Shift_Del	DEL	C	C	-			TCGA-S9-A6TX-01A-21D-A32B-08	TCGA-S9-A6TX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021bf1e7-5402-4760-8483-90da0f9656f7	c3c498b4-dc24-4a01-979b-e3a01156d4ee	g.chr6:17852203delC	ENST00000378814.5	-	7	564	c.565delG	c.(565-567)gctfs	p.A189fs	KIF13A_ENST00000378843.2_Frame_Shift_Del_p.A189fs|KIF13A_ENST00000378816.5_Frame_Shift_Del_p.A189fs|KIF13A_ENST00000259711.6_Frame_Shift_Del_p.A189fs|KIF13A_ENST00000378826.2_Frame_Shift_Del_p.A189fs	NM_001105568.2	NP_001099038.1	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	189	Kinesin-motor.				cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			CTAGTGACAGCTAGTTGAGAT	0.333													2	4	---	---	---	---						-	17852203	C	-	17852203	7	5	413	1	0	1	0	1	0	0	0	0	8316	797	28	0	5009	0	KIF13A	6	17852203	Frame_Shift_Del	DEL	C	TCGA-S9-A6TX-01A-21D-A32B-08		17852203	153262864	17	33976											
GSTA1	2938	broad.mit.edu	37	6	52656723	52656723	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6TX-01A-21D-A32B-08	TCGA-S9-A6TX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021bf1e7-5402-4760-8483-90da0f9656f7	c3c498b4-dc24-4a01-979b-e3a01156d4ee	g.chr6:52656723C>T	ENST00000334575.5	-	7	757	c.602G>A	c.(601-603)gGc>gAc	p.G201D	GSTA1_ENST00000493331.1_5'UTR	NM_145740.3	NP_665683.1	P08263	GSTA1_HUMAN	glutathione S-transferase alpha 1	201	GST C-terminal.				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity			large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	12	Lung NSC(77;0.118)				Amsacrine(DB00276)|Busulfan(DB01008)|Glutathione(DB00143)	CCTTGGGCTGCCAGGCTGTAG	0.468													41	72					0	0	1	0	0	T	52656723	C	T	52656723	3	4	413	1	0	0	0	0	1	0	0	0	6871	739	26	2	70	2	GSTA1	6	52656723	Missense_Mutation	SNP	C	TCGA-S9-A6TX-01A-21D-A32B-08	34804520	52656723	118458344	18	33977											
HOXA9	3205	broad.mit.edu	37	7	27204770	27204770	+	Missense_Mutation	SNP	G	G	C			TCGA-S9-A6TX-01A-21D-A32B-08	TCGA-S9-A6TX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021bf1e7-5402-4760-8483-90da0f9656f7	c3c498b4-dc24-4a01-979b-e3a01156d4ee	g.chr7:27204770G>C	ENST00000343483.6	-	1	379	c.307C>G	c.(307-309)Ccg>Gcg	p.P103A	HOXA9_ENST00000396345.1_Missense_Mutation_p.P103A|RP1-170O19.20_ENST00000470747.4_Intron|HOXA9_ENST00000497089.1_Intron|RP1-170O19.20_ENST00000465941.1_Intron	NM_152739.3	NP_689952.1	P31269	HXA9_HUMAN	homeobox A9	103							protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(1)|lung(5)|prostate(1)	8						CTGCCGTCCGGCGCCGCCGCC	0.711			T	"NUP98, MSI2"	AML*								9	14					0	0	1	0	0	C	27204770	G	C	27204770	3	2	413	1	0	0	0	0	1	0	0	0	7339	1203	42	5	519	5	HOXA9	7	27204770	Missense_Mutation	SNP	G	TCGA-S9-A6TX-01A-21D-A32B-08		27204770	131933893	19	33978											
SAMD9	54809	broad.mit.edu	37	7	92730801	92730801	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A6TX-01A-21D-A32B-08	TCGA-S9-A6TX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021bf1e7-5402-4760-8483-90da0f9656f7	c3c498b4-dc24-4a01-979b-e3a01156d4ee	g.chr7:92730801T>C	ENST00000379958.2	-	3	4879	c.4610A>G	c.(4609-4611)aAt>aGt	p.N1537S		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	1537						cytoplasm				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			ATATAAACAATTGTTTTCAGC	0.383													14	45					0	0	1	0	0	C	92730801	T	C	92730801	3	2	413	1	0	0	0	0	1	0	0	0	13878	1493	52	3	163	3	SAMD9	7	92730801	Missense_Mutation	SNP	T	TCGA-S9-A6TX-01A-21D-A32B-08	65526031	92730801	66407862	20	33979											
GRM8	2918	broad.mit.edu	37	7	126079206	126079206	+	Silent	SNP	T	T	C			TCGA-S9-A6TX-01A-21D-A32B-08	TCGA-S9-A6TX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021bf1e7-5402-4760-8483-90da0f9656f7	c3c498b4-dc24-4a01-979b-e3a01156d4ee	g.chr7:126079206T>C	ENST00000339582.2	-	11	3502	c.2694A>G	c.(2692-2694)acA>acG	p.T898T	GRM8_ENST00000444921.2_Silent_p.T898T|GRM8_ENST00000358373.3_3'UTR			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	898					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	TGATATATGTTGTCTTGGTAG	0.308										HNSCC(24;0.065)			48	65					0	0	1	0	0	C	126079206	T	C	126079206	2	2	413	1	0	0	0	0	0	0	0	1	6844	1799	63	3		3	GRM8	7	126079206	Silent	SNP	T	TCGA-S9-A6TX-01A-21D-A32B-08	33348405	126079206	33059457	21	33980											
KEL	3792	broad.mit.edu	37	7	142639988	142639988	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6TX-01A-21D-A32B-08	TCGA-S9-A6TX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021bf1e7-5402-4760-8483-90da0f9656f7	c3c498b4-dc24-4a01-979b-e3a01156d4ee	g.chr7:142639988C>T	ENST00000355265.2	-	17	2389	c.1915G>A	c.(1915-1917)Gtt>Att	p.V639I		NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	639					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)					AGCCCCCCAACGTCTGCAGCA	0.507													14	71					0	0	1	0	0	T	142639988	C	T	142639988	3	4	413	1	0	0	0	0	1	0	0	0	8185	536	19	1	295	1	KEL	7	142639988	Missense_Mutation	SNP	C	TCGA-S9-A6TX-01A-21D-A32B-08	16560782	142639988	16498675	22	33981											
PPP2R2A	5520	broad.mit.edu	37	8	26196411	26196411	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A6TX-01A-21D-A32B-08	TCGA-S9-A6TX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021bf1e7-5402-4760-8483-90da0f9656f7	c3c498b4-dc24-4a01-979b-e3a01156d4ee	g.chr8:26196411A>G	ENST00000380737.3	+	3	417	c.88A>G	c.(88-90)Ata>Gta	p.I30V	PPP2R2A_ENST00000315985.7_Missense_Mutation_p.I40V|PPP2R2A_ENST00000523473.1_3'UTR	NM_002717.3	NP_002708.1			protein phosphatase 2, regulatory subunit B, alpha											kidney(1)|large_intestine(2)|ovary(1)	4		all_cancers(63;0.086)|Ovarian(32;2.61e-05)|all_epithelial(46;0.0514)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.000754)|Epithelial(17;3.02e-15)|all cancers(2;1.52e-13)|OV - Ovarian serous cystadenocarcinoma(2;1.89e-10)|Colorectal(74;0.155)		TACAGCAGATATAATTTCTAC	0.353													21	34					0	0	1	0	0	G	26196411	A	G	26196411	3	3	413	1	0	0	0	0	1	0	0	0	12433	449	16	3	139	3	PPP2R2A	8	26196411	Missense_Mutation	SNP	A	TCGA-S9-A6TX-01A-21D-A32B-08		26196411	120167611	23	33982											
INTS9	55756	broad.mit.edu	37	8	28628505	28628505	+	Missense_Mutation	SNP	C	C	A			TCGA-S9-A6TX-01A-21D-A32B-08	TCGA-S9-A6TX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021bf1e7-5402-4760-8483-90da0f9656f7	c3c498b4-dc24-4a01-979b-e3a01156d4ee	g.chr8:28628505C>A	ENST00000416984.2	-	14	1952	c.1593G>T	c.(1591-1593)ttG>ttT	p.L531F	INTS9_ENST00000521022.1_Missense_Mutation_p.L552F|INTS9_ENST00000521777.1_Missense_Mutation_p.L528F|INTS9_ENST00000397363.4_Missense_Mutation_p.L446F	NM_001145159.2	NP_001138631.1	Q9NV88	INT9_HUMAN	integrator complex subunit 9	552					snRNA processing	integrator complex	protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(2)	19		Ovarian(32;0.0439)		KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.152)		CTACCTGAAGCAAGTGCTTGT	0.532													3	26					1	1	1	1	0	A	28628505	C	A	28628505	3	1	413	1	0	0	0	0	1	0	0	0	7829	709	25	5	332	5	INTS9	8	28628505	Missense_Mutation	SNP	C	TCGA-S9-A6TX-01A-21D-A32B-08	2432094	28628505	117735517	24	33983											
KLHL38	340359	broad.mit.edu	37	8	124664296	124664296	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6TX-01A-21D-A32B-08	TCGA-S9-A6TX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021bf1e7-5402-4760-8483-90da0f9656f7	c3c498b4-dc24-4a01-979b-e3a01156d4ee	g.chr8:124664296C>T	ENST00000325995.7	-	1	894	c.871G>A	c.(871-873)Gga>Aga	p.G291R	CTD-2552K11.2_ENST00000524355.1_RNA	NM_001081675.2	NP_001075144.2	Q2WGJ6	KLH38_HUMAN	kelch-like family member 38	291										breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1)	38						TCCTTCCTTCCGCCCAAGAGG	0.542													15	57					0	0	1	0	0	T	124664296	C	T	124664296	3	4	413	1	0	0	0	0	1	0	0	0	8433	661	23	1	886	1	KLHL38	8	124664296	Missense_Mutation	SNP	C	TCGA-S9-A6TX-01A-21D-A32B-08	96035791	124664296	21699726	25	33984											
MYO3A	53904	broad.mit.edu	37	10	26377303	26377303	+	Silent	SNP	C	C	T			TCGA-S9-A6TX-01A-21D-A32B-08	TCGA-S9-A6TX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021bf1e7-5402-4760-8483-90da0f9656f7	c3c498b4-dc24-4a01-979b-e3a01156d4ee	g.chr10:26377303C>T	ENST00000265944.5	+	15	1697	c.1531C>T	c.(1531-1533)Ctg>Ttg	p.L511L	MYO3A_ENST00000543632.1_Silent_p.L511L	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	511	Myosin head-like.				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						TGAATATCTCCTGGAAAAATC	0.343													25	36					0	0	1	0	0	T	26377303	C	T	26377303	2	4	413	1	0	0	0	0	0	0	0	1	10124	680	24	2		2	MYO3A	10	26377303	Silent	SNP	C	TCGA-S9-A6TX-01A-21D-A32B-08		26377303	109157444	26	33985											
TNKS1BP1	85456	broad.mit.edu	37	11	57087848	57087848	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6TX-01A-21D-A32B-08	TCGA-S9-A6TX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021bf1e7-5402-4760-8483-90da0f9656f7	c3c498b4-dc24-4a01-979b-e3a01156d4ee	g.chr11:57087848C>T	ENST00000532437.1	-	2	744	c.433G>A	c.(433-435)Gcc>Acc	p.A145T	TNKS1BP1_ENST00000358252.3_Missense_Mutation_p.A145T			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	145	Pro-rich.				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				GGGGCAGGGGCCTTCCGTACA	0.647													31	47					0	0	1	0	0	T	57087848	C	T	57087848	3	4	413	1	0	0	0	0	1	0	0	0	16380	739	26	2	4792	2	TNKS1BP1	11	57087848	Missense_Mutation	SNP	C	TCGA-S9-A6TX-01A-21D-A32B-08		57087848	77918668	27	33986											
SSH3	54961	broad.mit.edu	37	11	67077742	67077742	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A6TX-01A-21D-A32B-08	TCGA-S9-A6TX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021bf1e7-5402-4760-8483-90da0f9656f7	c3c498b4-dc24-4a01-979b-e3a01156d4ee	g.chr11:67077742A>G	ENST00000308127.4	+	13	1793	c.1615A>G	c.(1615-1617)Agg>Ggg	p.R539G	SSH3_ENST00000308298.7_Intron|SSH3_ENST00000376757.5_3'UTR	NM_017857.3	NP_060327.3	Q8TE77	SSH3_HUMAN	slingshot protein phosphatase 3	539					regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton|nucleus	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			AGGGGTCATGAGGTCCATCAG	0.617													4	77					0	0	1	0	0	G	67077742	A	G	67077742	3	3	413	1	0	0	0	0	1	0	0	0	15242	295	11	3	1665	3	SSH3	11	67077742	Missense_Mutation	SNP	A	TCGA-S9-A6TX-01A-21D-A32B-08	9989894	67077742	67928774	28	33987											
ALDH3B2	222	broad.mit.edu	37	11	67433014	67433014	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6TX-01A-21D-A32B-08	TCGA-S9-A6TX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021bf1e7-5402-4760-8483-90da0f9656f7	c3c498b4-dc24-4a01-979b-e3a01156d4ee	g.chr11:67433014G>A	ENST00000349015.3	-	7	886	c.448C>T	c.(448-450)Cgc>Tgc	p.R150C	ALDH3B2_ENST00000530069.1_Missense_Mutation_p.R150C	NM_000695.3	NP_000686	P48448	AL3B2_HUMAN	aldehyde dehydrogenase 3 family, member B2	150					alcohol metabolic process|cellular aldehyde metabolic process|lipid metabolic process		3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase	p.R150C(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1)	18					NADH(DB00157)	CAGGCCACGCGGTTGGCCACG	0.667													51	131					0	0	1	0	0	A	67433014	G	A	67433014	3	1	413	1	0	0	0	0	1	0	0	0	497	1116	39	1	725	1	ALDH3B2	11	67433014	Missense_Mutation	SNP	G	TCGA-S9-A6TX-01A-21D-A32B-08	355272	67433014	67573502	29	33988											
OAS3	4940	broad.mit.edu	37	12	113403651	113403651	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6TX-01A-21D-A32B-08	TCGA-S9-A6TX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021bf1e7-5402-4760-8483-90da0f9656f7	c3c498b4-dc24-4a01-979b-e3a01156d4ee	g.chr12:113403651C>T	ENST00000228928.7	+	12	2685	c.2506C>T	c.(2506-2508)Cgg>Tgg	p.R836W	RP1-71H24.1_ENST00000552784.1_RNA	NM_006187.2	NP_006178.2	Q9Y6K5	OAS3_HUMAN	2'-5'-oligoadenylate synthetase 3, 100kDa	836	OAS domain 3.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	microsome	ATP binding|nucleotidyltransferase activity|RNA binding			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2)	27						GGGCAACAAGCGGGCCGAGAT	0.592													8	11					0	0	1	0	0	T	113403651	C	T	113403651	3	4	413	1	0	0	0	0	1	0	0	0	10849	759	27	1	2552	1	OAS3	12	113403651	Missense_Mutation	SNP	C	TCGA-S9-A6TX-01A-21D-A32B-08		113403651	20448244	30	33989											
OXGR1	27199	broad.mit.edu	37	13	97639064	97639064	+	Missense_Mutation	SNP	A	A	C			TCGA-S9-A6TX-01A-21D-A32B-08	TCGA-S9-A6TX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021bf1e7-5402-4760-8483-90da0f9656f7	c3c498b4-dc24-4a01-979b-e3a01156d4ee	g.chr13:97639064A>C	ENST00000298440.1	-	4	1193	c.950T>G	c.(949-951)gTg>gGg	p.V317G	OXGR1_ENST00000543457.1_Missense_Mutation_p.V317G	NM_080818.3	NP_543008.3	Q96P68	OXGR1_HUMAN	oxoglutarate (alpha-ketoglutarate) receptor 1	317						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			NS(1)|large_intestine(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	15	all_neural(89;0.0982)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.186)			TTTGCATCTCACTGTTGAGCA	0.398													33	62					0	0	1	0	0	C	97639064	A	C	97639064	3	2	413	1	0	0	0	0	1	0	0	0	11379	159	6	5	67	5	OXGR1	13	97639064	Missense_Mutation	SNP	A	TCGA-S9-A6TX-01A-21D-A32B-08		97639064	17530814	31	33990											
PAK6	56924	broad.mit.edu	37	15	40564858	40564858	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6TX-01A-21D-A32B-08	TCGA-S9-A6TX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021bf1e7-5402-4760-8483-90da0f9656f7	c3c498b4-dc24-4a01-979b-e3a01156d4ee	g.chr15:40564858G>A	ENST00000455577.2	+	6	2204	c.1292G>A	c.(1291-1293)cGc>cAc	p.R431H	PAK6_ENST00000542403.2_Missense_Mutation_p.R431H|PAK6_ENST00000560346.1_Missense_Mutation_p.R431H|RP11-133K1.2_ENST00000558658.1_3'UTR|PAK6_ENST00000441369.1_Missense_Mutation_p.R431H|PAK6_ENST00000260404.4_Missense_Mutation_p.R431H|PAK6_ENST00000453867.1_Missense_Mutation_p.R431H	NM_001276718.1	NP_001263647.1	Q9NQU5	PAK6_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 6	431	Protein kinase.						ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|cervix(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(2)	24		all_cancers(109;1.13e-18)|all_epithelial(112;1.62e-15)|Lung NSC(122;5.67e-11)|all_lung(180;1.41e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0823)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.51e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0544)		CACTCGGGCCGCCAGGTGGCC	0.662													11	11					0	0	1	0	0	A	40564858	G	A	40564858	3	1	413	1	0	0	0	0	1	0	0	0	11451	1087	38	1	1302	1	PAK6	15	40564858	Missense_Mutation	SNP	G	TCGA-S9-A6TX-01A-21D-A32B-08		40564858	61966534	32	33991											
TMC5	79838	broad.mit.edu	37	16	19505646	19505646	+	Missense_Mutation	SNP	A	A	C			TCGA-S9-A6TX-01A-21D-A32B-08	TCGA-S9-A6TX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021bf1e7-5402-4760-8483-90da0f9656f7	c3c498b4-dc24-4a01-979b-e3a01156d4ee	g.chr16:19505646A>C	ENST00000396229.2	+	20	3638	c.2889A>C	c.(2887-2889)aaA>aaC	p.K963N	TMC5_ENST00000219821.5_Missense_Mutation_p.K717N|TMC5_ENST00000381414.4_Missense_Mutation_p.K905N|TMC5_ENST00000541464.1_Missense_Mutation_p.K911N|TMC5_ENST00000542583.2_Missense_Mutation_p.K963N|TMC5_ENST00000561503.1_Missense_Mutation_p.K604N|TMC5_ENST00000564959.1_Missense_Mutation_p.K646N	NM_001105248.1	NP_001098718.1	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5	963						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						TGGAGAAGAAAGCAAACCCCA	0.458													8	100					0	0	1	0	0	C	19505646	A	C	19505646	3	2	413	1	0	0	0	0	1	0	0	0	16048	69	3	5	3273	5	TMC5	16	19505646	Missense_Mutation	SNP	A	TCGA-S9-A6TX-01A-21D-A32B-08		19505646	70849107	33	33992											
DNAH3	55567	broad.mit.edu	37	16	21145636	21145636	+	Silent	SNP	C	C	T			TCGA-S9-A6TX-01A-21D-A32B-08	TCGA-S9-A6TX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021bf1e7-5402-4760-8483-90da0f9656f7	c3c498b4-dc24-4a01-979b-e3a01156d4ee	g.chr16:21145636C>T	ENST00000261383.3	-	7	1025	c.1026G>A	c.(1024-1026)gaG>gaA	p.E342E	DNAH3_ENST00000415178.1_Silent_p.E342E	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	342	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TGTGCAGATGCTCCTCGTTCC	0.517													49	75					0	0	1	0	0	T	21145636	C	T	21145636	2	4	413	1	0	0	0	0	0	0	0	1	4631	796	28	2		2	DNAH3	16	21145636	Silent	SNP	C	TCGA-S9-A6TX-01A-21D-A32B-08	1639990	21145636	69209117	34	33993											
RABEP2	79874	broad.mit.edu	37	16	28925751	28925751	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A6TX-01A-21D-A32B-08	TCGA-S9-A6TX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021bf1e7-5402-4760-8483-90da0f9656f7	c3c498b4-dc24-4a01-979b-e3a01156d4ee	g.chr16:28925751T>C	ENST00000358201.4	-	5	1288	c.700A>G	c.(700-702)Atc>Gtc	p.I234V	RABEP2_ENST00000544477.1_Missense_Mutation_p.I163V|RABEP2_ENST00000357573.6_Missense_Mutation_p.I234V	NM_024816.2	NP_079092.2	Q9H5N1	RABE2_HUMAN	rabaptin, RAB GTPase binding effector protein 2	234					endocytosis|protein transport	early endosome	growth factor activity|GTPase activator activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	16						AAGGAGGAGATGGAGGCGCTG	0.682													10	15					0	0	1	0	0	C	28925751	T	C	28925751	3	2	413	1	0	0	0	0	1	0	0	0	13014	1464	51	3	1045	3	RABEP2	16	28925751	Missense_Mutation	SNP	T	TCGA-S9-A6TX-01A-21D-A32B-08	7780115	28925751	61429002	35	33994											
KIAA0895L	653319	broad.mit.edu	37	16	67211953	67211953	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6TX-01A-21D-A32B-08	TCGA-S9-A6TX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021bf1e7-5402-4760-8483-90da0f9656f7	c3c498b4-dc24-4a01-979b-e3a01156d4ee	g.chr16:67211953C>T	ENST00000290881.7	-	7	2137	c.1211G>A	c.(1210-1212)cGc>cAc	p.R404H	KIAA0895L_ENST00000563831.2_Intron|KIAA0895L_ENST00000563902.1_Missense_Mutation_p.R404H|KIAA0895L_ENST00000561621.1_Missense_Mutation_p.A401T			Q68EN5	K895L_HUMAN	KIAA0895-like	404										breast(2)|endometrium(5)|kidney(2)|large_intestine(3)|lung(2)|prostate(2)|skin(1)	17						GATGGTCTGGCGATGTCGCAG	0.632													8	15					0	0	1	0	0	T	67211953	C	T	67211953	3	4	413	1	0	0	0	0	1	0	0	0	8240	768	27	1	212	1	KIAA0895L	16	67211953	Missense_Mutation	SNP	C	TCGA-S9-A6TX-01A-21D-A32B-08	38286202	67211953	23142800	36	33995											
CDH13	1012	broad.mit.edu	37	16	82892059	82892059	+	Silent	SNP	G	G	A			TCGA-S9-A6TX-01A-21D-A32B-08	TCGA-S9-A6TX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021bf1e7-5402-4760-8483-90da0f9656f7	c3c498b4-dc24-4a01-979b-e3a01156d4ee	g.chr16:82892059G>A	ENST00000566620.1	+	2	428	c.138G>A	c.(136-138)gaG>gaA	p.E46E	CDH13_ENST00000268613.10_Silent_p.E93E|CDH13_ENST00000446376.2_Silent_p.E46E|CDH13_ENST00000565636.1_Silent_p.E46E|CDH13_ENST00000567445.1_Silent_p.E46E|CDH13_ENST00000428848.3_Silent_p.E46E|CDH13_ENST00000431540.3_Silent_p.E46E	NM_001220488.1|NM_001220489.1|NM_001220490.1|NM_001257.4	NP_001207417.1|NP_001207418.1|NP_001207419.1|NP_001248.1	P55290	CAD13_HUMAN	cadherin 13	46					adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|Rac protein signal transduction|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|Rho protein signal transduction|sprouting angiogenesis	anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection	adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding			large_intestine(1)	1		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)		COAD - Colon adenocarcinoma(5;0.0268)		AATTCATTGAGGACCAGTCAA	0.393													3	16					0	0	1	0	0	A	82892059	G	A	82892059	2	1	413	1	0	0	0	0	0	0	0	1	3121	991	35	2		2	CDH13	16	82892059	Silent	SNP	G	TCGA-S9-A6TX-01A-21D-A32B-08	15680106	82892059	7462694	37	33996											
WDR81	124997	broad.mit.edu	37	17	1636832	1636832	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6TX-01A-21D-A32B-08	TCGA-S9-A6TX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021bf1e7-5402-4760-8483-90da0f9656f7	c3c498b4-dc24-4a01-979b-e3a01156d4ee	g.chr17:1636832C>T	ENST00000409644.1	+	7	4501	c.4501C>T	c.(4501-4503)Cgg>Tgg	p.R1501W	WDR81_ENST00000309182.5_Missense_Mutation_p.R450W|WDR81_ENST00000545662.1_Missense_Mutation_p.R132W|WDR81_ENST00000419248.1_Missense_Mutation_p.R274W|WDR81_ENST00000446363.1_Missense_Mutation_p.R140W|WDR81_ENST00000437219.2_Missense_Mutation_p.R298W|RP11-961A15.1_ENST00000576540.1_RNA	NM_001163809.1	NP_001157281.1	B3KXU1	B3KXU1_HUMAN	WD repeat domain 81	274										cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		TGACATCATCCGGAAAATCAT	0.612													52	94					0	0	1	0	0	T	1636832	C	T	1636832	3	4	413	1	0	0	0	0	1	0	0	0	17390	643	23	1	4589	1	WDR81	17	1636832	Missense_Mutation	SNP	C	TCGA-S9-A6TX-01A-21D-A32B-08		1636832	79558378	38	33997											
CHRNB1	1140	broad.mit.edu	37	17	7350230	7350230	+	Missense_Mutation	SNP	G	G	C			TCGA-S9-A6TX-01A-21D-A32B-08	TCGA-S9-A6TX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021bf1e7-5402-4760-8483-90da0f9656f7	c3c498b4-dc24-4a01-979b-e3a01156d4ee	g.chr17:7350230G>C	ENST00000306071.2	+	4	389	c.322G>C	c.(322-324)Gtg>Ctg	p.V108L	CHRNB1_ENST00000576360.1_Missense_Mutation_p.V36L|CHRNB1_ENST00000536404.2_Missense_Mutation_p.V36L	NM_000747.2	NP_000738.2	P11230	ACHB_HUMAN	cholinergic receptor, nicotinic, beta 1 (muscle)	108					behavioral response to nicotine|muscle contraction|muscle fiber development|neuromuscular synaptic transmission|postsynaptic membrane organization|regulation of membrane potential|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine binding|receptor activity			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|ovary(3)	23		Prostate(122;0.157)				GGCGGAATCCGTGTGGCTCCC	0.677													4	14					0	0	1	0	0	C	7350230	G	C	7350230	3	2	413	1	0	0	0	0	1	0	0	0	3412	1145	40	5	336	5	CHRNB1	17	7350230	Missense_Mutation	SNP	G	TCGA-S9-A6TX-01A-21D-A32B-08	5713398	7350230	73844980	39	33998											
TMUB2	79089	broad.mit.edu	37	17	42268191	42268191	+	Missense_Mutation	SNP	G	G	A	rs139203660		TCGA-S9-A6TX-01A-21D-A32B-08	TCGA-S9-A6TX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021bf1e7-5402-4760-8483-90da0f9656f7	c3c498b4-dc24-4a01-979b-e3a01156d4ee	g.chr17:42268191G>A	ENST00000319511.6	+	3	1515	c.865G>A	c.(865-867)Gtc>Atc	p.V289I	TMUB2_ENST00000587989.1_Missense_Mutation_p.V309I|TMUB2_ENST00000538716.2_Missense_Mutation_p.V309I|TMUB2_ENST00000589184.1_3'UTR|TMUB2_ENST00000590235.1_3'UTR|TMUB2_ENST00000592825.1_3'UTR|TMUB2_ENST00000357984.3_Missense_Mutation_p.V289I|TMUB2_ENST00000446571.3_Missense_Mutation_p.V252I|TMUB2_ENST00000587172.1_3'UTR|TMUB2_ENST00000589785.1_Missense_Mutation_p.V289I	NM_177441.2	NP_803190.2	Q71RG4	TMUB2_HUMAN	transmembrane and ubiquitin-like domain containing 2	309						integral to membrane				endometrium(2)|kidney(2)|large_intestine(1)|lung(3)	8		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.113)		GGGAGTCACCGTCTTCTTCAG	0.498													11	89					0	0	1	0	0	A	42268191	G	A	42268191	3	1	413	1	0	0	0	0	1	0	0	0	16325	1145	40	1	935	1	TMUB2	17	42268191	Missense_Mutation	SNP	G	TCGA-S9-A6TX-01A-21D-A32B-08	34917961	42268191	38927019	40	33999											
C3	718	broad.mit.edu	37	19	6697472	6697472	+	Silent	SNP	C	C	T			TCGA-S9-A6TX-01A-21D-A32B-08	TCGA-S9-A6TX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021bf1e7-5402-4760-8483-90da0f9656f7	c3c498b4-dc24-4a01-979b-e3a01156d4ee	g.chr19:6697472C>T	ENST00000245907.6	-	21	2771	c.2679G>A	c.(2677-2679)tcG>tcA	p.S893S		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	893					complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		GAACGGACAACGAGGACTTGG	0.572													6	52					0	0	1	0	0	T	6697472	C	T	6697472	2	4	413	1	0	0	0	0	0	0	0	1	2218	523	19	1		1	C3	19	6697472	Silent	SNP	C	TCGA-S9-A6TX-01A-21D-A32B-08		6697472	52431511	41	34000											
ZNF285	26974	broad.mit.edu	37	19	44890648	44890648	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A6TX-01A-21D-A32B-08	TCGA-S9-A6TX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021bf1e7-5402-4760-8483-90da0f9656f7	c3c498b4-dc24-4a01-979b-e3a01156d4ee	g.chr19:44890648T>C	ENST00000330997.4	-	4	1823	c.1759A>G	c.(1759-1761)Aga>Gga	p.R587G	ZNF285_ENST00000591679.1_Missense_Mutation_p.R594G|ZNF285_ENST00000544719.2_Missense_Mutation_p.R587G|CTC-512J12.6_ENST00000588212.1_Intron	NM_152354.3	NP_689567.3			zinc finger protein 285											breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						AATGTTTCTCTCTGCTCATGT	0.433													3	32					0	0	1	0	0	C	44890648	T	C	44890648	3	2	413	1	0	0	0	0	1	0	0	0	17880	1559	54	3	17	3	ZNF285	19	44890648	Missense_Mutation	SNP	T	TCGA-S9-A6TX-01A-21D-A32B-08	38193176	44890648	14238335	42	34001											
NLRP9	338321	broad.mit.edu	37	19	56223200	56223200	+	Silent	SNP	A	A	G	rs149437621	byFrequency	TCGA-S9-A6TX-01A-21D-A32B-08	TCGA-S9-A6TX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021bf1e7-5402-4760-8483-90da0f9656f7	c3c498b4-dc24-4a01-979b-e3a01156d4ee	g.chr19:56223200A>G	ENST00000332836.2	-	8	2836	c.2809T>C	c.(2809-2811)Ttg>Ctg	p.L937L		NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	937						cytoplasm	ATP binding			NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		GGGTGGCTCAATGCCTCACAC	0.562													3	25					0	0	1	0	0	G	56223200	A	G	56223200	2	3	413	1	0	0	0	0	0	0	0	1	10531	98	4	3		3	NLRP9	19	56223200	Silent	SNP	A	TCGA-S9-A6TX-01A-21D-A32B-08	11332552	56223200	2905783	43	34002											
ZBTB33	10009	broad.mit.edu	37	X	119389238	119389239	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-S9-A6TX-01A-21D-A32B-08	TCGA-S9-A6TX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021bf1e7-5402-4760-8483-90da0f9656f7	c3c498b4-dc24-4a01-979b-e3a01156d4ee	g.chrX:119389238_119389239delTG	ENST00000326624.2	+	2	2196_2197	c.1968_1969delTG	c.(1966-1971)aatgtafs	p.V657fs	ZBTB33_ENST00000557385.1_Frame_Shift_Del_p.V657fs	NM_006777.3	NP_006768.1	Q86T24	KAISO_HUMAN	zinc finger and BTB domain containing 33	657	Interaction with CTNND1 (By similarity).				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|nucleolus|plasma membrane	DNA binding|protein binding|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	26						TTAAACAAAATGTAACAGATGG	0.361													7	50	---	---	---	---						-	119389239	TG	-	119389238	7	5	413	1	0	1	0	1	0	0	0	0	17595	1461	51	0	1970	0	ZBTB33	23	119389238	Frame_Shift_Del	DEL	TG	TCGA-S9-A6TX-01A-21D-A32B-08		119389238	35881322	44	34003											
PIAS3	10401	broad.mit.edu	37	1	145584147	145584147	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A6TY-01A-12D-A32B-08	TCGA-S9-A6TY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0fe1c5-8033-42ab-975f-66954d5e6008	24f1f477-c264-4fa9-a07c-eafe57bf2c25	g.chr1:145584147T>C	ENST00000393045.2	+	11	1388	c.1298T>C	c.(1297-1299)gTc>gCc	p.V433A	PIAS3_ENST00000369298.1_Missense_Mutation_p.V398A	NM_006099.3	NP_006090.2	Q9Y6X2	PIAS3_HUMAN	protein inhibitor of activated STAT, 3	433					positive regulation of protein sumoylation|protein sumoylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	enzyme binding|nucleic acid binding|protein C-terminus binding|zinc ion binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)	28	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TACAGCCCAGTCCAGGGGGGA	0.498													5	218					0	0	1	0	0	C	145584147	T	C	145584147	3	2	414	1	0	0	0	0	1	0	0	0	11925	1667	58	3	1340	3	PIAS3	1	145584147	Missense_Mutation	SNP	T	TCGA-S9-A6TY-01A-12D-A32B-08		145584147	103666474	1	34004											
FAM129A	116496	broad.mit.edu	37	1	184853821	184853821	+	Missense_Mutation	SNP	C	C	G			TCGA-S9-A6TY-01A-12D-A32B-08	TCGA-S9-A6TY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0fe1c5-8033-42ab-975f-66954d5e6008	24f1f477-c264-4fa9-a07c-eafe57bf2c25	g.chr1:184853821C>G	ENST00000367511.3	-	5	740	c.547G>C	c.(547-549)Gac>Cac	p.D183H		NM_052966.2	NP_443198.1	Q9BZQ8	NIBAN_HUMAN	family with sequence similarity 129, member A	183					negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						CTCTTCTGGTCAGCAGCCTCG	0.597													17	30					0	0	1	0	0	G	184853821	C	G	184853821	3	3	414	1	0	0	0	0	1	0	0	0	5467	826	29	5	2279	5	FAM129A	1	184853821	Missense_Mutation	SNP	C	TCGA-S9-A6TY-01A-12D-A32B-08	39269674	184853821	64396800	2	34005											
PROM2	150696	broad.mit.edu	37	2	95940490	95940490	+	Nonsense_Mutation	SNP	C	C	T			TCGA-S9-A6TY-01A-12D-A32B-08	TCGA-S9-A6TY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0fe1c5-8033-42ab-975f-66954d5e6008	24f1f477-c264-4fa9-a07c-eafe57bf2c25	g.chr2:95940490C>T	ENST00000317620.9	+	1	290	c.157C>T	c.(157-159)Cga>Tga	p.R53*	PROM2_ENST00000463580.1_3'UTR|PROM2_ENST00000542147.1_Nonsense_Mutation_p.R53*|PROM2_ENST00000317668.4_Nonsense_Mutation_p.R53*|PROM2_ENST00000403131.2_Nonsense_Mutation_p.R53*	NM_001165978.1	NP_001159450.1	Q8N271	PROM2_HUMAN	prominin 2	53						apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane				breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	32						GCTGGCCCCTCGAGTTCGTGC	0.657													6	150					0	0	1	0	0	T	95940490	C	T	95940490	4	4	414	1	0	0	0	0	0	1	0	0	12608	876	31	1	159	1	PROM2	2	95940490	Nonsense_Mutation	SNP	C	TCGA-S9-A6TY-01A-12D-A32B-08		95940490	147258883	3	34006											
DNER	92737	broad.mit.edu	37	2	230453157	230453157	+	Silent	SNP	C	C	T			TCGA-S9-A6TY-01A-12D-A32B-08	TCGA-S9-A6TY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0fe1c5-8033-42ab-975f-66954d5e6008	24f1f477-c264-4fa9-a07c-eafe57bf2c25	g.chr2:230453157C>T	ENST00000341772.4	-	3	767	c.633G>A	c.(631-633)gcG>gcA	p.A211A		NM_139072.3	NP_620711.3	Q8NFT8	DNER_HUMAN	delta/notch-like EGF repeat containing	211					central nervous system development|endocytosis|neuron migration|Notch signaling pathway|synapse assembly	dendrite|early endosome|integral to membrane|plasma membrane	calcium ion binding|clathrin binding|transmembrane receptor activity			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	63		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)		GGCGGCCACCCGCAGAGCTGT	0.428													16	28					0	0	1	0	0	T	230453157	C	T	230453157	2	4	414	1	0	0	0	0	0	0	0	1	4694	639	23	1		1	DNER	2	230453157	Silent	SNP	C	TCGA-S9-A6TY-01A-12D-A32B-08	134512667	230453157	12746216	4	34007											
ATG4B	23192	broad.mit.edu	37	2	242594751	242594755	+	Frame_Shift_Del	DEL	GTCCT	GTCCT	-			TCGA-S9-A6TY-01A-12D-A32B-08	TCGA-S9-A6TY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0fe1c5-8033-42ab-975f-66954d5e6008	24f1f477-c264-4fa9-a07c-eafe57bf2c25	g.chr2:242594751_242594755delGTCCT	ENST00000405546.3	+	6	953_957	c.451_455delGTCCT	c.(451-456)gtcctgfs	p.VL151fs	ATG4B_ENST00000402096.1_Frame_Shift_Del_p.VL77fs|ATG4B_ENST00000396411.3_Frame_Shift_Del_p.VL77fs|ATG4B_ENST00000404914.3_Frame_Shift_Del_p.VL151fs|ATG4B_ENST00000474739.2_Frame_Shift_Del_p.VL137fs			Q9Y4P1	ATG4B_HUMAN	autophagy related 4B, cysteine peptidase	151					autophagic vacuole assembly|protein transport|proteolysis	cytoplasm	cysteine-type peptidase activity|protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;2.44e-33)|all cancers(36;5.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.75e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0848)		TGTCGCCCAGGTCCTGAAGTATGTA	0.546													4	9	---	---	---	---						-	242594755	GTCCT	-	242594751	7	5	414	1	0	1	0	1	0	0	0	0	1096	1261	44	0	473	0	ATG4B	2	242594751	Frame_Shift_Del	DEL	GTCCT	TCGA-S9-A6TY-01A-12D-A32B-08	12141594	242594751	604622	5	34008											
C3orf30	152405	broad.mit.edu	37	3	118865135	118865135	+	Silent	SNP	C	C	T			TCGA-S9-A6TY-01A-12D-A32B-08	TCGA-S9-A6TY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0fe1c5-8033-42ab-975f-66954d5e6008	24f1f477-c264-4fa9-a07c-eafe57bf2c25	g.chr3:118865135C>T	ENST00000295622.1	+	1	139	c.99C>T	c.(97-99)gaC>gaT	p.D33D		NM_152539.2	NP_689752.2	Q96M34	CC030_HUMAN	chromosome 3 open reading frame 30	33										NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(20)|ovary(2)|prostate(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(114;0.222)		AGGAAGAAGACGACCAGAAGA	0.552													8	12					0	0	1	0	0	T	118865135	C	T	118865135	2	4	414	1	0	0	0	0	0	0	0	1	2234	535	19	1		1	C3orf30	3	118865135	Silent	SNP	C	TCGA-S9-A6TY-01A-12D-A32B-08		118865135	79157295	6	34009											
NLGN1	22871	broad.mit.edu	37	3	173997179	173997179	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A6TY-01A-12D-A32B-08	TCGA-S9-A6TY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0fe1c5-8033-42ab-975f-66954d5e6008	24f1f477-c264-4fa9-a07c-eafe57bf2c25	g.chr3:173997179A>G	ENST00000457714.1	+	6	1817	c.1388A>G	c.(1387-1389)cAt>cGt	p.H463R	NLGN1_ENST00000401917.3_Missense_Mutation_p.H503R|NLGN1_ENST00000545397.1_Missense_Mutation_p.H463R|NLGN1_ENST00000361589.4_Missense_Mutation_p.H463R	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	480					calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			TTTACGGACCATCAGTGGGTG	0.448													16	71					0	0	1	0	0	G	173997179	A	G	173997179	3	3	414	1	0	0	0	0	1	0	0	0	10508	217	8	3	1402	3	NLGN1	3	173997179	Missense_Mutation	SNP	A	TCGA-S9-A6TY-01A-12D-A32B-08	55132044	173997179	24025251	7	34010											
SPRY4	81848	broad.mit.edu	37	5	141693866	141693866	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6TY-01A-12D-A32B-08	TCGA-S9-A6TY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0fe1c5-8033-42ab-975f-66954d5e6008	24f1f477-c264-4fa9-a07c-eafe57bf2c25	g.chr5:141693866G>A	ENST00000344120.4	-	3	1063	c.877C>T	c.(877-879)Cgc>Tgc	p.R293C	SPRY4_ENST00000434127.2_Missense_Mutation_p.R270C	NM_030964.3	NP_112226.2	Q9C004	SPY4_HUMAN	sprouty homolog 4 (Drosophila)	270					multicellular organismal development	cytoplasm|ruffle membrane	protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(7)|ovary(1)	18		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAACCAGGGCGGCGCAGACGG	0.642									Testicular Cancer, Familial Clustering of				6	42					0	0	1	0	0	A	141693866	G	A	141693866	3	1	414	1	0	0	0	0	1	0	0	0	15164	1116	39	1	95	1	SPRY4	5	141693866	Missense_Mutation	SNP	G	TCGA-S9-A6TY-01A-12D-A32B-08		141693866	39221394	8	34011											
CACNA2D1	781	broad.mit.edu	37	7	81964495	81964495	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A6TY-01A-12D-A32B-08	TCGA-S9-A6TY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0fe1c5-8033-42ab-975f-66954d5e6008	24f1f477-c264-4fa9-a07c-eafe57bf2c25	g.chr7:81964495T>C	ENST00000356860.3	-	3	588	c.250A>G	c.(250-252)Agg>Ggg	p.R84G	CACNA2D1_ENST00000356253.5_Missense_Mutation_p.R84G|CACNA2D1_ENST00000423588.1_Missense_Mutation_p.R84G	NM_000722.2	NP_000713.2	P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	84						voltage-gated calcium channel complex	metal ion binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)	TCAATATCCCTGGCTGCAATT	0.333													6	352					0	0	1	0	0	C	81964495	T	C	81964495	3	2	414	1	0	0	0	0	1	0	0	0	2566	1579	55	3	3173	3	CACNA2D1	7	81964495	Missense_Mutation	SNP	T	TCGA-S9-A6TY-01A-12D-A32B-08		81964495	77174168	9	34012											
HNF4G	3174	broad.mit.edu	37	8	76470774	76470774	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6TY-01A-12D-A32B-08	TCGA-S9-A6TY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0fe1c5-8033-42ab-975f-66954d5e6008	24f1f477-c264-4fa9-a07c-eafe57bf2c25	g.chr8:76470774G>A	ENST00000396423.2	+	7	849	c.725G>A	c.(724-726)cGc>cAc	p.R242H	HNF4G_ENST00000354370.1_Missense_Mutation_p.R205H	NM_004133.4	NP_004124.4	Q14541	HNF4G_HUMAN	hepatocyte nuclear factor 4, gamma	205					endocrine pancreas development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	37	Breast(64;0.0448)		BRCA - Breast invasive adenocarcinoma(89;0.161)			GTTATTCACCGCAACAGCTGT	0.378													4	208					0	0	1	0	0	A	76470774	G	A	76470774	3	1	414	1	0	0	0	0	1	0	0	0	7295	1087	38	1	751	1	HNF4G	8	76470774	Missense_Mutation	SNP	G	TCGA-S9-A6TY-01A-12D-A32B-08		76470774	69893248	10	34013											
CA9	768	broad.mit.edu	37	9	35676353	35676353	+	Silent	SNP	G	G	A			TCGA-S9-A6TY-01A-12D-A32B-08	TCGA-S9-A6TY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0fe1c5-8033-42ab-975f-66954d5e6008	24f1f477-c264-4fa9-a07c-eafe57bf2c25	g.chr9:35676353G>A	ENST00000378357.4	+	5	911	c.807G>A	c.(805-807)ccG>ccA	p.P269P	CA9_ENST00000493245.1_Intron	NM_001216.2	NP_001207.2	Q16790	CAH9_HUMAN	carbonic anhydrase IX	269	Catalytic.				one-carbon metabolic process	integral to membrane|microvillus membrane|nucleolus	carbonate dehydratase activity|zinc ion binding			kidney(1)|large_intestine(3)|lung(5)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	17	all_epithelial(49;0.217)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			TGGGGCGCCCGGGAGGCCTGG	0.637													9	210					0	0	1	0	0	A	35676353	G	A	35676353	2	1	414	1	0	0	0	0	0	0	0	1	2542	1103	39	1		1	CA9	9	35676353	Silent	SNP	G	TCGA-S9-A6TY-01A-12D-A32B-08		35676353	105537078	11	34014											
SVEP1	79987	broad.mit.edu	37	9	113171073	113171073	+	Silent	SNP	C	C	T			TCGA-S9-A6TY-01A-12D-A32B-08	TCGA-S9-A6TY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0fe1c5-8033-42ab-975f-66954d5e6008	24f1f477-c264-4fa9-a07c-eafe57bf2c25	g.chr9:113171073C>T	ENST00000401783.2	-	38	7143	c.6807G>A	c.(6805-6807)ccG>ccA	p.P2269P	SVEP1_ENST00000374469.1_Silent_p.P2246P|SVEP1_ENST00000297826.5_Silent_p.P195P	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	2269	Sushi 15.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding	p.P2272P(1)		NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						CATTCTGGATCGGGGGAGGTT	0.478													65	86					0	0	1	0	0	T	113171073	C	T	113171073	2	4	414	1	0	0	0	0	0	0	0	1	15476	871	31	1		1	SVEP1	9	113171073	Silent	SNP	C	TCGA-S9-A6TY-01A-12D-A32B-08	77494720	113171073	28042358	12	34015											
BRD3	8019	broad.mit.edu	37	9	136915518	136915518	+	Missense_Mutation	SNP	G	G	C			TCGA-S9-A6TY-01A-12D-A32B-08	TCGA-S9-A6TY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0fe1c5-8033-42ab-975f-66954d5e6008	24f1f477-c264-4fa9-a07c-eafe57bf2c25	g.chr9:136915518G>C	ENST00000303407.7	-	5	877	c.692C>G	c.(691-693)cCt>cGt	p.P231R	BRD3_ENST00000371834.2_Missense_Mutation_p.P231R|BRD3_ENST00000357885.2_Missense_Mutation_p.P231R	NM_007371.3	NP_031397.1	Q15059	BRD3_HUMAN	bromodomain containing 3	231						nucleus	protein binding		BRD3/C15orf55(3)	kidney(1)|skin(1)|stomach(4)	6				OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07)		CGGCGTAGGAGGGACCACGGG	0.687			T	C15orf55	lethal midline carcinoma of young people								5	44					0	0	1	0	0	C	136915518	G	C	136915518	3	2	414	1	0	0	0	0	1	0	0	0	1505	1000	35	4	1520	4	BRD3	9	136915518	Missense_Mutation	SNP	G	TCGA-S9-A6TY-01A-12D-A32B-08	23744445	136915518	4297913	13	34016											
FAM171A1	221061	broad.mit.edu	37	10	15255062	15255062	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6TY-01A-12D-A32B-08	TCGA-S9-A6TY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0fe1c5-8033-42ab-975f-66954d5e6008	24f1f477-c264-4fa9-a07c-eafe57bf2c25	g.chr10:15255062G>A	ENST00000378116.4	-	8	2531	c.2525C>T	c.(2524-2526)gCc>gTc	p.A842V		NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN	family with sequence similarity 171, member A1	842						integral to membrane				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						CTCCGAGGGGGCATCCGCAGT	0.617													4	158					0	0	1	0	0	A	15255062	G	A	15255062	3	1	414	1	0	0	0	0	1	0	0	0	5520	1203	42	2	151	2	FAM171A1	10	15255062	Missense_Mutation	SNP	G	TCGA-S9-A6TY-01A-12D-A32B-08		15255062	120279685	14	34017											
SIRT1	23411	broad.mit.edu	37	10	69669183	69669183	+	Silent	SNP	A	A	G			TCGA-S9-A6TY-01A-12D-A32B-08	TCGA-S9-A6TY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0fe1c5-8033-42ab-975f-66954d5e6008	24f1f477-c264-4fa9-a07c-eafe57bf2c25	g.chr10:69669183A>G	ENST00000212015.6	+	7	1394	c.1341A>G	c.(1339-1341)ccA>ccG	p.P447P	SIRT1_ENST00000403579.1_Silent_p.P144P|SIRT1_ENST00000432464.1_Silent_p.P152P|SIRT1_ENST00000406900.1_Silent_p.P144P	NM_012238.4	NP_036370.2	Q96EB6	SIRT1_HUMAN	sirtuin 1	447	Deacetylase sirtuin-type.				apoptosis|cell aging|cellular response to hydrogen peroxide|cellular response to starvation|chromatin silencing at rDNA|DNA repair|DNA replication|establishment of chromatin silencing|histone H3 deacetylation|interspecies interaction between organisms|maintenance of chromatin silencing|muscle organ development|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of fat cell differentiation|negative regulation of helicase activity|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|peptidyl-lysine acetylation|peptidyl-lysine deacetylation|positive regulation of anti-apoptosis|positive regulation of chromatin silencing|positive regulation of DNA repair|regulation of apoptosis|regulation of cell proliferation|regulation of endodeoxyribonuclease activity|regulation of protein import into nucleus, translocation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|rRNA processing|transcription, DNA-dependent|triglyceride mobilization|white fat cell differentiation	chromatin silencing complex|cytoplasm|nuclear euchromatin|nuclear heterochromatin|nuclear inner membrane|nucleolus|PML body|rDNA heterochromatin	bHLH transcription factor binding|histone binding|HLH domain binding|identical protein binding|mitogen-activated protein kinase binding|NAD+ binding|NAD-dependent histone deacetylase activity (H3-K9 specific)|p53 binding|protein C-terminus binding|transcription corepressor activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(3)|skin(1)	14						AAGTAAGACCAGTAGCACTAA	0.368													20	29					0	0	1	0	0	G	69669183	A	G	69669183	2	3	414	1	0	0	0	0	0	0	0	1	14392	175	7	3		3	SIRT1	10	69669183	Silent	SNP	A	TCGA-S9-A6TY-01A-12D-A32B-08	54414121	69669183	65865564	15	34018											
OR5L1	219437	broad.mit.edu	37	11	55579400	55579400	+	Missense_Mutation	SNP	C	C	T	rs144467940	by1000genomes	TCGA-S9-A6TY-01A-12D-A32B-08	TCGA-S9-A6TY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0fe1c5-8033-42ab-975f-66954d5e6008	24f1f477-c264-4fa9-a07c-eafe57bf2c25	g.chr11:55579400C>T	ENST00000333973.2	+	1	547	c.458C>T	c.(457-459)aCg>aTg	p.T153M		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, member 1	153					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				TTCTGTGGGACGGTGTGTTCT	0.453													109	103					0	0	1	0	0	T	55579400	C	T	55579400	3	4	414	1	0	0	0	0	1	0	0	0	11217	536	19	1	460	1	OR5L1	11	55579400	Missense_Mutation	SNP	C	TCGA-S9-A6TY-01A-12D-A32B-08		55579400	79427116	16	34019											
OR5T1	390155	broad.mit.edu	37	11	56043676	56043676	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6TY-01A-12D-A32B-08	TCGA-S9-A6TY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0fe1c5-8033-42ab-975f-66954d5e6008	24f1f477-c264-4fa9-a07c-eafe57bf2c25	g.chr11:56043676C>T	ENST00000313033.2	+	1	648	c.562C>T	c.(562-564)Cat>Tat	p.H188Y		NM_001004745.1	NP_001004745.1	Q8NG75	OR5T1_HUMAN	olfactory receptor, family 5, subfamily T, member 1	188					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.H188D(1)		NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(27)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	43	Esophageal squamous(21;0.00448)					TGAAATTAGGCATGTCTTTTG	0.408													46	198					0	0	1	0	0	T	56043676	C	T	56043676	3	4	414	1	0	0	0	0	1	0	0	0	11228	710	25	2	564	2	OR5T1	11	56043676	Missense_Mutation	SNP	C	TCGA-S9-A6TY-01A-12D-A32B-08	464276	56043676	78962840	17	34020											
AHNAK	79026	broad.mit.edu	37	11	62287084	62287084	+	Silent	SNP	C	C	T	rs149805243		TCGA-S9-A6TY-01A-12D-A32B-08	TCGA-S9-A6TY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0fe1c5-8033-42ab-975f-66954d5e6008	24f1f477-c264-4fa9-a07c-eafe57bf2c25	g.chr11:62287084C>T	ENST00000378024.4	-	5	15079	c.14805G>A	c.(14803-14805)ccG>ccA	p.P4935P	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	4935					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CTTCTAACTTCGGACCTGAAA	0.458													6	156					0	0	1	0	0	T	62287084	C	T	62287084	2	4	414	1	0	0	0	0	0	0	0	1	411	871	31	1		1	AHNAK	11	62287084	Silent	SNP	C	TCGA-S9-A6TY-01A-12D-A32B-08	6243408	62287084	72719432	18	34021											
GANAB	23193	broad.mit.edu	37	11	62401811	62401811	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A6TY-01A-12D-A32B-08	TCGA-S9-A6TY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0fe1c5-8033-42ab-975f-66954d5e6008	24f1f477-c264-4fa9-a07c-eafe57bf2c25	g.chr11:62401811T>C	ENST00000346178.4	-	6	612	c.597A>G	c.(595-597)atA>atG	p.I199M	GANAB_ENST00000534779.1_Missense_Mutation_p.I85M|GANAB_ENST00000540933.1_Intron|GANAB_ENST00000356638.3_Intron|GANAB_ENST00000534422.1_Intron	NM_001278192.1|NM_198335.2	NP_001265121.1|NP_938149.2	Q14697	GANAB_HUMAN	glucosidase, alpha; neutral AB	187					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|Golgi apparatus|melanosome	carbohydrate binding|glucan 1,3-alpha-glucosidase activity|protein binding			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3)	35						TCTTATCCCATATGCTACCAA	0.478													36	89					0	0	1	0	0	C	62401811	T	C	62401811	3	2	414	1	0	0	0	0	1	0	0	0	6273	1396	49	3	2383	3	GANAB	11	62401811	Missense_Mutation	SNP	T	TCGA-S9-A6TY-01A-12D-A32B-08	114727	62401811	72604705	19	34022											
CBL	867	broad.mit.edu	37	11	119077233	119077235	+	In_Frame_Del	DEL	CAC	CAC	-			TCGA-S9-A6TY-01A-12D-A32B-08	TCGA-S9-A6TY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0fe1c5-8033-42ab-975f-66954d5e6008	24f1f477-c264-4fa9-a07c-eafe57bf2c25	g.chr11:119077233_119077235delCAC	ENST00000264033.4	+	1	482_484	c.106_108delCAC	c.(106-108)cacdel	p.H42del		NM_005188.3	NP_005179.2	P22681	CBL_HUMAN	Cbl proto-oncogene, E3 ubiquitin protein ligase	42					epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of receptor-mediated endocytosis	cytosol|nucleus	calcium ion binding|sequence-specific DNA binding transcription factor activity|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(194)|kidney(3)|large_intestine(9)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	251		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784)		CTTCCAGCCGcaccaccaccacc	0.675			"T, Mis S, O"	MLL	"AML, JMML, MDS"				Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies				2	4	---	---	---	---						-	119077235	CAC	-	119077233	7	5	414	1	0	1	0	1	0	0	0	0	2718	710	25	0	108	0	CBL	11	119077233	In_Frame_Del	DEL	CAC	TCGA-S9-A6TY-01A-12D-A32B-08	56675422	119077233	15929283	20	34023											
APAF1	317	broad.mit.edu	37	12	99097198	99097198	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A6TY-01A-12D-A32B-08	TCGA-S9-A6TY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0fe1c5-8033-42ab-975f-66954d5e6008	24f1f477-c264-4fa9-a07c-eafe57bf2c25	g.chr12:99097198A>G	ENST00000550527.1	+	17	2490	c.2483A>G	c.(2482-2484)cAt>cGt	p.H828R	APAF1_ENST00000552268.1_Intron|APAF1_ENST00000549007.1_Intron|APAF1_ENST00000357310.1_Intron|APAF1_ENST00000339433.3_Intron|APAF1_ENST00000547045.1_Intron|APAF1_ENST00000551964.1_Missense_Mutation_p.H839R|APAF1_ENST00000359972.2_Intron|APAF1_ENST00000333991.1_Intron			O14727	APAF_HUMAN	apoptotic peptidase activating factor 1	839					activation of caspase activity by cytochrome c|defense response|induction of apoptosis by intracellular signals|nervous system development	cytosol|Golgi apparatus|nucleus	ATP binding|caspase activator activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(1)	42					Adenosine triphosphate(DB00171)	CACACGGGCCATCACAGCACC	0.408													25	26					0	0	1	0	0	G	99097198	A	G	99097198	3	3	414	1	0	0	0	0	1	0	0	0	751	217	8	3	2582	3	APAF1	12	99097198	Missense_Mutation	SNP	A	TCGA-S9-A6TY-01A-12D-A32B-08		99097198	34754697	21	34024											
F10	2159	broad.mit.edu	37	13	113803380	113803380	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6TY-01A-12D-A32B-08	TCGA-S9-A6TY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0fe1c5-8033-42ab-975f-66954d5e6008	24f1f477-c264-4fa9-a07c-eafe57bf2c25	g.chr13:113803380C>T	ENST00000375559.3	+	8	1054	c.1016C>T	c.(1015-1017)gCg>gTg	p.A339V	F10_ENST00000409306.1_3'UTR|F10_ENST00000375551.3_3'UTR	NM_000504.3	NP_000495.1	P00742	FA10_HUMAN	coagulation factor X	339	Peptidase S1.				blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of cell migration|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen	calcium ion binding|phospholipid binding|protein binding|serine-type endopeptidase activity			endometrium(2)|large_intestine(4)|lung(10)|pancreas(1)|stomach(1)	18	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.113)|all_lung(25;0.0364)|all_epithelial(44;0.0373)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0805)|Epithelial(84;0.231)		Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Enoxaparin(DB01225)|Heparin(DB01109)|Menadione(DB00170)|Reteplase(DB00015)|Tenecteplase(DB00031)	ATGAACGTGGCGCCTGCCTGC	0.637													5	111					0	0	1	0	0	T	113803380	C	T	113803380	3	4	414	1	0	0	0	0	1	0	0	0	5364	768	27	1	1046	1	F10	13	113803380	Missense_Mutation	SNP	C	TCGA-S9-A6TY-01A-12D-A32B-08		113803380	1366498	22	34025											
WDHD1	11169	broad.mit.edu	37	14	55467292	55467292	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A6TY-01A-12D-A32B-08	TCGA-S9-A6TY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0fe1c5-8033-42ab-975f-66954d5e6008	24f1f477-c264-4fa9-a07c-eafe57bf2c25	g.chr14:55467292T>C	ENST00000360586.3	-	10	936	c.871A>G	c.(871-873)Act>Gct	p.T291A	WDHD1_ENST00000420358.2_Missense_Mutation_p.T168A|WDHD1_ENST00000421192.1_Missense_Mutation_p.T168A	NM_007086.3	NP_009017.1	O75717	WDHD1_HUMAN	WD repeat and HMG-box DNA binding protein 1	291						cytoplasm|nucleoplasm	DNA binding			breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(2)	42						TCCGCATCAGTATACGATATT	0.393													3	70					0	0	1	0	0	C	55467292	T	C	55467292	3	2	414	1	0	0	0	0	1	0	0	0	17331	1638	57	3	2586	3	WDHD1	14	55467292	Missense_Mutation	SNP	T	TCGA-S9-A6TY-01A-12D-A32B-08		55467292	51882248	23	34026											
RDH12	145226	broad.mit.edu	37	14	68192802	68192802	+	Silent	SNP	G	G	A			TCGA-S9-A6TY-01A-12D-A32B-08	TCGA-S9-A6TY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0fe1c5-8033-42ab-975f-66954d5e6008	24f1f477-c264-4fa9-a07c-eafe57bf2c25	g.chr14:68192802G>A	ENST00000551171.1	+	6	702	c.378G>A	c.(376-378)gcG>gcA	p.A126A	RDH12_ENST00000267502.3_Silent_p.A126A|RDH12_ENST00000539142.1_Silent_p.A126A	NM_152443.2	NP_689656.2	Q96NR8	RDH12_HUMAN	retinol dehydrogenase 12 (all-trans/9-cis/11-cis)	126			A -> V (in RP53).		photoreceptor cell maintenance|response to stimulus|retinol metabolic process	intracellular	binding|retinol dehydrogenase activity			large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(4)	12				all cancers(60;0.000704)|OV - Ovarian serous cystadenocarcinoma(108;0.00161)|BRCA - Breast invasive adenocarcinoma(234;0.00953)	Vitamin A(DB00162)	TCAACAATGCGGGAGTAATGA	0.463													5	167					0	0	1	0	0	A	68192802	G	A	68192802	2	1	414	1	0	0	0	0	0	0	0	1	13243	1103	39	1		1	RDH12	14	68192802	Silent	SNP	G	TCGA-S9-A6TY-01A-12D-A32B-08	12725510	68192802	39156738	24	34027											
THBS1	7057	broad.mit.edu	37	15	39885372	39885372	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6TY-01A-12D-A32B-08	TCGA-S9-A6TY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0fe1c5-8033-42ab-975f-66954d5e6008	24f1f477-c264-4fa9-a07c-eafe57bf2c25	g.chr15:39885372G>A	ENST00000260356.5	+	18	3104	c.2939G>A	c.(2938-2940)cGc>cAc	p.R980H		NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN	thrombospondin 1	980	TSP C-terminal.				activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	Becaplermin(DB00102)	TGGGTTGTACGCCATCAGGGT	0.493													23	33					0	0	1	0	0	A	39885372	G	A	39885372	3	1	414	1	0	0	0	0	1	0	0	0	15913	1087	38	1	3005	1	THBS1	15	39885372	Missense_Mutation	SNP	G	TCGA-S9-A6TY-01A-12D-A32B-08		39885372	62646020	25	34028											
ZFYVE19	84936	broad.mit.edu	37	15	41105573	41105573	+	Silent	SNP	C	C	T			TCGA-S9-A6TY-01A-12D-A32B-08	TCGA-S9-A6TY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0fe1c5-8033-42ab-975f-66954d5e6008	24f1f477-c264-4fa9-a07c-eafe57bf2c25	g.chr15:41105573C>T	ENST00000355341.4	+	8	1569	c.1068C>T	c.(1066-1068)gaC>gaT	p.D356D	ZFYVE19_ENST00000299173.10_Silent_p.D288D|ZFYVE19_ENST00000570108.1_Silent_p.D333D|ZFYVE19_ENST00000336455.5_Silent_p.D346D|ZFYVE19_ENST00000564258.1_Silent_p.D181D	NM_001077268.1	NP_001070736.1	Q96K21	ZFY19_HUMAN	zinc finger, FYVE domain containing 19	356							zinc ion binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	9		all_cancers(109;3.31e-18)|all_epithelial(112;2.33e-15)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;2.76e-05)|COAD - Colon adenocarcinoma(120;0.151)|BRCA - Breast invasive adenocarcinoma(123;0.164)		ACAGTGATGACGACGAGGATG	0.587													6	9					0	0	1	0	0	T	41105573	C	T	41105573	2	4	414	1	0	0	0	0	0	0	0	1	17723	535	19	1		1	ZFYVE19	15	41105573	Silent	SNP	C	TCGA-S9-A6TY-01A-12D-A32B-08	1220201	41105573	61425819	26	34029											
DUOX1	53905	broad.mit.edu	37	15	45433222	45433222	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6TY-01A-12D-A32B-08	TCGA-S9-A6TY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0fe1c5-8033-42ab-975f-66954d5e6008	24f1f477-c264-4fa9-a07c-eafe57bf2c25	g.chr15:45433222C>T	ENST00000321429.4	+	14	1926	c.1519C>T	c.(1519-1521)Cgg>Tgg	p.R507W	DUOX1_ENST00000561166.1_Missense_Mutation_p.R153W|DUOX1_ENST00000389037.3_Missense_Mutation_p.R507W	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	507	Peroxidase-like; mediates peroxidase activity.				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		ACAATTTGTGCGGCTACGGGA	0.622													4	118					0	0	1	0	0	T	45433222	C	T	45433222	3	4	414	1	0	0	0	0	1	0	0	0	4826	759	27	1	1565	1	DUOX1	15	45433222	Missense_Mutation	SNP	C	TCGA-S9-A6TY-01A-12D-A32B-08	4327649	45433222	57098170	27	34030											
GLDN	342035	broad.mit.edu	37	15	51696848	51696848	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6TY-01A-12D-A32B-08	TCGA-S9-A6TY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0fe1c5-8033-42ab-975f-66954d5e6008	24f1f477-c264-4fa9-a07c-eafe57bf2c25	g.chr15:51696848C>T	ENST00000335449.6	+	10	1609	c.1553C>T	c.(1552-1554)gCc>gTc	p.A518V	GLDN_ENST00000396399.2_Missense_Mutation_p.A394V	NM_181789.2	NP_861454.2	Q6ZMI3	GLDN_HUMAN	gliomedin	518	Olfactomedin-like.				cell differentiation|nervous system development	collagen|integral to membrane|plasma membrane				central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19				all cancers(107;0.00194)|GBM - Glioblastoma multiforme(94;0.00942)		TCTGTTCTTGCCATGTTAGCA	0.378													4	161					0	0	1	0	0	T	51696848	C	T	51696848	3	4	414	1	0	0	0	0	1	0	0	0	6476	739	26	2	1591	2	GLDN	15	51696848	Missense_Mutation	SNP	C	TCGA-S9-A6TY-01A-12D-A32B-08	6263626	51696848	50834544	28	34031											
IDH2	3418	broad.mit.edu	37	15	90631838	90631838	+	Missense_Mutation	SNP	C	C	T	rs121913503		TCGA-S9-A6TY-01A-12D-A32B-08	TCGA-S9-A6TY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0fe1c5-8033-42ab-975f-66954d5e6008	24f1f477-c264-4fa9-a07c-eafe57bf2c25	g.chr15:90631838C>T	ENST00000330062.3	-	4	628	c.515G>A	c.(514-516)aGg>aAg	p.R172K	IDH2_ENST00000539790.1_Missense_Mutation_p.R42K|IDH2_ENST00000559482.1_Intron|IDH2_ENST00000540499.2_Missense_Mutation_p.R120K	NM_002168.2	NP_002159.2	P48735	IDHP_HUMAN	isocitrate dehydrogenase 2 (NADP+), mitochondrial	172					2-oxoglutarate metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding	p.R172K(116)|p.R172M(21)|p.R172N(1)		biliary_tract(11)|bone(19)|central_nervous_system(107)|endometrium(1)|haematopoietic_and_lymphoid_tissue(953)|large_intestine(8)|lung(5)|skin(5)	1109	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.106)			ATGGGCGTGCCTGCCAATGGT	0.632			M		GBM								24	35					0	0	1	0	0	T	90631838	C	T	90631838	3	4	414	1	0	0	0	0	1	0	0	0	7539	681	24	2	875	2	IDH2	15	90631838	Missense_Mutation	SNP	C	TCGA-S9-A6TY-01A-12D-A32B-08	38934990	90631838	11899554	29	34032											
USP7	7874	broad.mit.edu	37	16	8988966	8988966	+	Silent	SNP	C	C	T			TCGA-S9-A6TY-01A-12D-A32B-08	TCGA-S9-A6TY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0fe1c5-8033-42ab-975f-66954d5e6008	24f1f477-c264-4fa9-a07c-eafe57bf2c25	g.chr16:8988966C>T	ENST00000344836.4	-	28	3159	c.2961G>A	c.(2959-2961)gaG>gaA	p.E987E	USP7_ENST00000535863.1_Silent_p.E888E|USP7_ENST00000381886.4_Silent_p.E971E	NM_003470.2	NP_003461.2	Q93009	UBP7_HUMAN	ubiquitin specific peptidase 7 (herpes virus-associated)	987					interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process	cytoplasm|PML body	cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	48						TGACAAGCATCTCATTCTCTT	0.498													8	221					0	0	1	0	0	T	8988966	C	T	8988966	2	4	414	1	0	0	0	0	0	0	0	1	17148	912	32	2		2	USP7	16	8988966	Silent	SNP	C	TCGA-S9-A6TY-01A-12D-A32B-08		8988966	81365787	30	34033											
DNAH2	146754	broad.mit.edu	37	17	7663154	7663154	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6TY-01A-12D-A32B-08	TCGA-S9-A6TY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0fe1c5-8033-42ab-975f-66954d5e6008	24f1f477-c264-4fa9-a07c-eafe57bf2c25	g.chr17:7663154G>A	ENST00000572933.1	+	17	4143	c.2683G>A	c.(2683-2685)Gac>Aac	p.D895N	DNAH2_ENST00000389173.2_Missense_Mutation_p.D895N			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	895	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TGTGGTCAATGACATTGGCAA	0.507													5	218					0	0	1	0	0	A	7663154	G	A	7663154	3	1	414	1	0	0	0	0	1	0	0	0	4630	1290	45	2	2745	2	DNAH2	17	7663154	Missense_Mutation	SNP	G	TCGA-S9-A6TY-01A-12D-A32B-08		7663154	73532056	31	34034											
CXXC1	30827	broad.mit.edu	37	18	47810101	47810101	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6TY-01A-12D-A32B-08	TCGA-S9-A6TY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0fe1c5-8033-42ab-975f-66954d5e6008	24f1f477-c264-4fa9-a07c-eafe57bf2c25	g.chr18:47810101G>A	ENST00000285106.6	-	11	2212	c.1498C>T	c.(1498-1500)Cgc>Tgc	p.R500C	CXXC1_ENST00000589940.1_Missense_Mutation_p.R500C|CXXC1_ENST00000412036.2_Missense_Mutation_p.R504C	NM_001101654.1|NM_014593.3	NP_001095124.1|NP_055408.2	Q9P0U4	CXXC1_HUMAN	CXXC finger protein 1	500					histone H3-K4 methylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck|Set1C/COMPASS complex	protein binding|unmethylated CpG binding|zinc ion binding			autonomic_ganglia(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	24						TCCATGTGGCGCAAGGCAACA	0.577													28	37					0	0	1	0	0	A	47810101	G	A	47810101	3	1	414	1	0	0	0	0	1	0	0	0	4120	1087	38	1	492	1	CXXC1	18	47810101	Missense_Mutation	SNP	G	TCGA-S9-A6TY-01A-12D-A32B-08		47810101	30267147	32	34035											
SERPINB13	5275	broad.mit.edu	37	18	61262359	61262359	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A6TY-01A-12D-A32B-08	TCGA-S9-A6TY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0fe1c5-8033-42ab-975f-66954d5e6008	24f1f477-c264-4fa9-a07c-eafe57bf2c25	g.chr18:61262359A>G	ENST00000344731.5	+	7	814	c.712A>G	c.(712-714)Aaa>Gaa	p.K238E	SERPINB13_ENST00000269489.5_Intron	NM_012397.3	NP_036529.1	Q9UIV8	SPB13_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 13	238					regulation of proteolysis|response to UV	cytoplasm|extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1)	25						GATTCCATATAAAAACAACGA	0.433													22	84					0	0	1	0	0	G	61262359	A	G	61262359	3	3	414	1	0	0	0	0	1	0	0	0	14154	363	13	3	734	3	SERPINB13	18	61262359	Missense_Mutation	SNP	A	TCGA-S9-A6TY-01A-12D-A32B-08	13452258	61262359	16814889	33	34036											
MAP2K7	5609	broad.mit.edu	37	19	7975888	7975888	+	Silent	SNP	G	G	A			TCGA-S9-A6TY-01A-12D-A32B-08	TCGA-S9-A6TY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0fe1c5-8033-42ab-975f-66954d5e6008	24f1f477-c264-4fa9-a07c-eafe57bf2c25	g.chr19:7975888G>A	ENST00000545011.1	+	7	890	c.825G>A	c.(823-825)ctG>ctA	p.L275L	MAP2K7_ENST00000397979.3_Silent_p.L233L|MAP2K7_ENST00000397983.3_Silent_p.L249L|MAP2K7_ENST00000397981.3_Silent_p.L233L			O14733	MP2K7_HUMAN	mitogen-activated protein kinase kinase 7	233	Protein kinase.				activation of JUN kinase activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleus	ATP binding|JUN kinase kinase activity|magnesium ion binding|protein binding|protein kinase binding|protein phosphatase binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(2)|central_nervous_system(3)|endometrium(1)|large_intestine(8)|lung(4)|ovary(1)	19					Etoposide(DB00773)	TGTACTACCTGAAGGAGAAGC	0.652													12	35					0	0	1	0	0	A	7975888	G	A	7975888	2	1	414	1	0	0	0	0	0	0	0	1	9292	1277	45	2		2	MAP2K7	19	7975888	Silent	SNP	G	TCGA-S9-A6TY-01A-12D-A32B-08		7975888	51153095	34	34037											
ZNF493	284443	broad.mit.edu	37	19	21606468	21606468	+	Missense_Mutation	SNP	C	C	T	rs142651314	byFrequency	TCGA-S9-A6TY-01A-12D-A32B-08	TCGA-S9-A6TY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0fe1c5-8033-42ab-975f-66954d5e6008	24f1f477-c264-4fa9-a07c-eafe57bf2c25	g.chr19:21606468C>T	ENST00000392288.2	+	4	1116	c.1007C>T	c.(1006-1008)cCt>cTt	p.P336L	CTD-2561J22.3_ENST00000600810.1_Intron|ZNF493_ENST00000355504.4_Missense_Mutation_p.P208L	NM_001076678.2	NP_001070146.1	Q6ZR52	ZN493_HUMAN	zinc finger protein 493	208					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						TTCTCAACCCCTACTAAACAT	0.348													3	50					0	0	1	0	0	T	21606468	C	T	21606468	3	4	414	1	0	0	0	0	1	0	0	0	18001	681	24	2	1084	2	ZNF493	19	21606468	Missense_Mutation	SNP	C	TCGA-S9-A6TY-01A-12D-A32B-08	13630580	21606468	37522515	35	34038											
CEACAM16	388551	broad.mit.edu	37	19	45211437	45211437	+	Frame_Shift_Del	DEL	G	G	-			TCGA-S9-A6TY-01A-12D-A32B-08	TCGA-S9-A6TY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0fe1c5-8033-42ab-975f-66954d5e6008	24f1f477-c264-4fa9-a07c-eafe57bf2c25	g.chr19:45211437delG	ENST00000587331.1	+	6	1460	c.1245delG	c.(1243-1245)ctgfs	p.L415fs	CEACAM16_ENST00000405314.2_Frame_Shift_Del_p.L415fs|CTB-171A8.1_ENST00000590796.1_RNA	NM_001039213.2	NP_001034302.2	A7LI12	A7LI12_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 16	415										endometrium(3)|large_intestine(2)|lung(3)|ovary(1)	9	Lung NSC(12;0.000698)|all_lung(12;0.002)	Prostate(69;0.0376)|Ovarian(192;0.231)				CTGAGACACTGGAAGTGGAGC	0.582													2	4	---	---	---	---						-	45211437	G	-	45211437	7	5	414	1	0	1	0	1	0	0	0	0	3210	1335	47	0	1263	0	CEACAM16	19	45211437	Frame_Shift_Del	DEL	G	TCGA-S9-A6TY-01A-12D-A32B-08	23604969	45211437	13917546	36	34039											
ZNF132	7691	broad.mit.edu	37	19	58948511	58948511	+	Silent	SNP	T	T	C			TCGA-S9-A6TY-01A-12D-A32B-08	TCGA-S9-A6TY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0fe1c5-8033-42ab-975f-66954d5e6008	24f1f477-c264-4fa9-a07c-eafe57bf2c25	g.chr19:58948511T>C	ENST00000254166.3	-	2	535	c.135A>G	c.(133-135)gtA>gtG	p.V45V		NM_003433.3	NP_003424.3	P52740	ZN132_HUMAN	zinc finger protein 132	45	KRAB.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(1)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0171)|Lung(386;0.182)		GGGAGAAGTATACAGCCACAT	0.488													3	33					0	0	1	0	0	C	58948511	T	C	58948511	2	2	414	1	0	0	0	0	0	0	0	1	17780	1393	49	3		3	ZNF132	19	58948511	Silent	SNP	T	TCGA-S9-A6TY-01A-12D-A32B-08	13737074	58948511	180472	37	34040											
TMPRSS15	5651	broad.mit.edu	37	21	19770581	19770581	+	Missense_Mutation	SNP	T	T	A			TCGA-S9-A6TY-01A-12D-A32B-08	TCGA-S9-A6TY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0fe1c5-8033-42ab-975f-66954d5e6008	24f1f477-c264-4fa9-a07c-eafe57bf2c25	g.chr21:19770581T>A	ENST00000284885.3	-	2	244	c.211A>T	c.(211-213)Aat>Tat	p.N71Y		NM_002772.2	NP_002763	P98073	ENTK_HUMAN	transmembrane protease, serine 15	71	SEA.				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity	p.N71Y(1)		NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						AAATTAGGATTATATGTAACT	0.358													58	27					0	0	1	0	0	A	19770581	T	A	19770581	3	1	414	1	0	0	0	0	1	0	0	0	16306	1754	61	5	2944	5	TMPRSS15	21	19770581	Missense_Mutation	SNP	T	TCGA-S9-A6TY-01A-12D-A32B-08		19770581	28359314	38	34041											
ST13	6767	broad.mit.edu	37	22	41223196	41223196	+	Silent	SNP	T	T	C			TCGA-S9-A6TY-01A-12D-A32B-08	TCGA-S9-A6TY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0fe1c5-8033-42ab-975f-66954d5e6008	24f1f477-c264-4fa9-a07c-eafe57bf2c25	g.chr22:41223196T>C	ENST00000216218.3	-	11	1366	c.885A>G	c.(883-885)ggA>ggG	p.G295G		NM_003932.3	NP_003923.2	P50502	F10A1_HUMAN	suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein)	295	Gly/Met/Pro-rich.						protein binding, bridging			cervix(1)|large_intestine(1)|lung(3)|skin(1)	6						CAGGCATTCCTCCGGGAAAAT	0.458													24	39					0	0	1	0	0	C	41223196	T	C	41223196	2	2	414	1	0	0	0	0	0	0	0	1	15266	1538	54	3		3	ST13	22	41223196	Silent	SNP	T	TCGA-S9-A6TY-01A-12D-A32B-08		41223196	10081370	39	34042											
AMELY	266	broad.mit.edu	37	Y	6736157	6736158	+	Frame_Shift_Ins	INS	-	-	G			TCGA-S9-A6TY-01A-12D-A32B-08	TCGA-S9-A6TY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0fe1c5-8033-42ab-975f-66954d5e6008	24f1f477-c264-4fa9-a07c-eafe57bf2c25	g.chrY:6736157_6736158insG	ENST00000215479.5	-	5	560_561	c.493_494insC	c.(493-495)ctgfs	p.L165fs	AMELY_ENST00000383036.1_Frame_Shift_Ins_p.L179fs|AMELY_ENST00000383037.4_Frame_Shift_Ins_p.L179fs	NM_001143.1	NP_001134.1	Q99218	AMELY_HUMAN	amelogenin, Y-linked	179	Gln-rich.				biomineral tissue development	proteinaceous extracellular matrix	structural constituent of tooth enamel			NS(1)|lung(5)	6						CAGGGGCCGCAGGGGGAACATT	0.619													5	2	---	---	---	---						G	6736158	-	G	6736157	7	5	414	1	0	1	1	0	0	0	0	0	566	188	7	0	92	0	AMELY	24	6736157	Frame_Shift_Ins	INS	-	TCGA-S9-A6TY-01A-12D-A32B-08		6736157	52637409	40	34043											
CASZ1	54897	broad.mit.edu	37	1	10710809	10710809	+	Silent	SNP	G	G	A	rs141036792	by1000genomes	TCGA-S9-A6TZ-01A-21D-A32B-08	TCGA-S9-A6TZ-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b34ce7c2-7592-4123-8c4e-50c80b01c9dd	18964457-ef9a-436c-8d75-b11c6c918e6e	g.chr1:10710809G>A	ENST00000377022.3	-	13	3137	c.2820C>T	c.(2818-2820)aaC>aaT	p.N940N	RP4-734G22.3_ENST00000606802.1_RNA|CASZ1_ENST00000344008.5_Silent_p.N940N	NM_001079843.2	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	940					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		CATTTGATTCGTTGCTAGAAC	0.597													27	80					0	0	1	0	0	A	10710809	G	A	10710809	2	1	415	1	0	0	0	0	0	0	0	1	2703	1136	40	1		1	CASZ1	1	10710809	Silent	SNP	G	TCGA-S9-A6TZ-01A-21D-A32B-08		10710809	238539812	1	34044											
AP4B1	10717	broad.mit.edu	37	1	114438891	114438891	+	Missense_Mutation	SNP	T	T	A			TCGA-S9-A6TZ-01A-21D-A32B-08	TCGA-S9-A6TZ-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b34ce7c2-7592-4123-8c4e-50c80b01c9dd	18964457-ef9a-436c-8d75-b11c6c918e6e	g.chr1:114438891T>A	ENST00000369569.1	-	8	1779	c.1499A>T	c.(1498-1500)tAt>tTt	p.Y500F	AP4B1-AS1_ENST00000419536.1_RNA|AP4B1_ENST00000462591.1_5'UTR|AP4B1_ENST00000256658.4_Missense_Mutation_p.Y500F|AP4B1_ENST00000369567.1_Missense_Mutation_p.Y332F	NM_001253852.1	NP_001240781.1	Q9Y6B7	AP4B1_HUMAN	adaptor-related protein complex 4, beta 1 subunit	500					intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|soluble fraction|trans-Golgi network	protein binding|protein transporter activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|prostate(3)	25	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TATGCAGTAATACAACAAACG	0.448													6	123					0	0	1	0	0	A	114438891	T	A	114438891	3	1	415	1	0	0	0	0	1	0	0	0	747	1406	49	4	732	4	AP4B1	1	114438891	Missense_Mutation	SNP	T	TCGA-S9-A6TZ-01A-21D-A32B-08	103728082	114438891	134811730	2	34045											
KIAA1614	57710	broad.mit.edu	37	1	180885464	180885464	+	Silent	SNP	A	A	G			TCGA-S9-A6TZ-01A-21D-A32B-08	TCGA-S9-A6TZ-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b34ce7c2-7592-4123-8c4e-50c80b01c9dd	18964457-ef9a-436c-8d75-b11c6c918e6e	g.chr1:180885464A>G	ENST00000367588.4	+	2	280	c.225A>G	c.(223-225)gtA>gtG	p.V75V		NM_020950.1	NP_066001.1	Q5VZ46	K1614_HUMAN	KIAA1614	75										NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						TATGGGGAGTACAGCTCCAGG	0.597													18	27					0	0	1	0	0	G	180885464	A	G	180885464	2	3	415	1	0	0	0	0	0	0	0	1	8290	378	14	3		3	KIAA1614	1	180885464	Silent	SNP	A	TCGA-S9-A6TZ-01A-21D-A32B-08	66446573	180885464	68365157	3	34046											
PTPRC	5788	broad.mit.edu	37	1	198668788	198668788	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6TZ-01A-21D-A32B-08	TCGA-S9-A6TZ-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b34ce7c2-7592-4123-8c4e-50c80b01c9dd	18964457-ef9a-436c-8d75-b11c6c918e6e	g.chr1:198668788G>A	ENST00000367376.2	+	5	559	c.388G>A	c.(388-390)Gcc>Acc	p.A130T	PTPRC_ENST00000391970.3_3'UTR|PTPRC_ENST00000352140.3_Missense_Mutation_p.A130T|PTPRC_ENST00000594404.1_Intron|PTPRC_ENST00000442510.2_Missense_Mutation_p.A132T|PTPRC_ENST00000348564.6_Intron	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	130					axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						CGGCTCCGCCGCCAATGCAAA	0.532											OREG0014061	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	203					0	0	1	0	0	A	198668788	G	A	198668788	3	1	415	1	0	0	0	0	1	0	0	0	12849	1087	38	1	413	1	PTPRC	1	198668788	Missense_Mutation	SNP	G	TCGA-S9-A6TZ-01A-21D-A32B-08	17783324	198668788	50581833	4	34047											
NT5C1B	93034	broad.mit.edu	37	2	18768782	18768782	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6TZ-01A-21D-A32B-08	TCGA-S9-A6TZ-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b34ce7c2-7592-4123-8c4e-50c80b01c9dd	18964457-ef9a-436c-8d75-b11c6c918e6e	g.chr2:18768782C>T	ENST00000304081.4	-	2	207	c.107G>A	c.(106-108)cGt>cAt	p.R36H	NT5C1B_ENST00000359846.2_Missense_Mutation_p.R36H|NT5C1B_ENST00000460052.1_5'UTR|NT5C1B_ENST00000600945.1_Missense_Mutation_p.R36H|NT5C1B-RDH14_ENST00000532967.1_Missense_Mutation_p.R36H	NM_033253.3	NP_150278.2			5'-nucleotidase, cytosolic IB											endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)	Ovarian(717;0.208)				ATTGCTCAGACGAACTCCTGT	0.438													36	60					0	0	1	0	0	T	18768782	C	T	18768782	3	4	415	1	0	0	0	0	1	0	0	0	10734	536	19	1	1761	1	NT5C1B	2	18768782	Missense_Mutation	SNP	C	TCGA-S9-A6TZ-01A-21D-A32B-08		18768782	224430591	5	34048											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-S9-A6TZ-01A-21D-A32B-08	TCGA-S9-A6TZ-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b34ce7c2-7592-4123-8c4e-50c80b01c9dd	18964457-ef9a-436c-8d75-b11c6c918e6e	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	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								18	33					0	0	1	0	0	T	209113112	C	T	209113112	3	4	415	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-S9-A6TZ-01A-21D-A32B-08	190344330	209113112	34086261	6	34049											
C4orf19	55286	broad.mit.edu	37	4	37591775	37591775	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A6TZ-01A-21D-A32B-08	TCGA-S9-A6TZ-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b34ce7c2-7592-4123-8c4e-50c80b01c9dd	18964457-ef9a-436c-8d75-b11c6c918e6e	g.chr4:37591775T>C	ENST00000284437.6	+	3	276	c.98T>C	c.(97-99)cTa>cCa	p.L33P	C4orf19_ENST00000381980.4_Missense_Mutation_p.L33P|C4orf19_ENST00000508175.1_Intron	NM_018302.2	NP_060772.2	Q8IY42	CD019_HUMAN	chromosome 4 open reading frame 19	33										large_intestine(1)|lung(3)|skin(3)|stomach(1)|urinary_tract(1)	9						AGCTGCAAGCTAGATGAAGAC	0.458													10	369					0	0	1	0	0	C	37591775	T	C	37591775	3	2	415	1	0	0	0	0	1	0	0	0	2268	1522	53	3	104	3	C4orf19	4	37591775	Missense_Mutation	SNP	T	TCGA-S9-A6TZ-01A-21D-A32B-08		37591775	153562501	7	34050											
TMPRSS11F	389208	broad.mit.edu	37	4	68938111	68938111	+	Silent	SNP	C	C	T			TCGA-S9-A6TZ-01A-21D-A32B-08	TCGA-S9-A6TZ-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b34ce7c2-7592-4123-8c4e-50c80b01c9dd	18964457-ef9a-436c-8d75-b11c6c918e6e	g.chr4:68938111C>T	ENST00000356291.2	-	5	503	c.444G>A	c.(442-444)aaG>aaA	p.K148K	UBA6-AS1_ENST00000511571.1_RNA|UBA6-AS1_ENST00000499180.2_RNA|UBA6-AS1_ENST00000500538.2_RNA	NM_207407.2	NP_997290.2	Q6ZWK6	TM11F_HUMAN	transmembrane protease, serine 11F	148	SEA.				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(4)	39						GATATAAAGCCTTTTCAATTT	0.323													11	56					0	0	1	0	0	T	68938111	C	T	68938111	2	4	415	1	0	0	0	0	0	0	0	1	16303	680	24	2		2	TMPRSS11F	4	68938111	Silent	SNP	C	TCGA-S9-A6TZ-01A-21D-A32B-08	31346336	68938111	122216165	8	34051											
UGT2B7	7364	broad.mit.edu	37	4	69962319	69962319	+	Silent	SNP	G	G	T			TCGA-S9-A6TZ-01A-21D-A32B-08	TCGA-S9-A6TZ-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b34ce7c2-7592-4123-8c4e-50c80b01c9dd	18964457-ef9a-436c-8d75-b11c6c918e6e	g.chr4:69962319G>T	ENST00000305231.7	+	1	127	c.81G>T	c.(79-81)ctG>ctT	p.L27L	UGT2B7_ENST00000508661.1_Silent_p.L27L|UGT2B7_ENST00000509763.1_Intron	NM_001074.2	NP_001065.2	P16662	UD2B7_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B7	27					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GAAAGGTGCTGGTGTGGGCAG	0.433													11	93					3.07112e-06	3.16861e-06	1	1	0	T	69962319	G	T	69962319	2	4	415	1	0	0	0	0	0	0	0	1	17022	1335	47	5		5	UGT2B7	4	69962319	Silent	SNP	G	TCGA-S9-A6TZ-01A-21D-A32B-08	1024208	69962319	121191957	9	34052											
ADAMTS3	9508	broad.mit.edu	37	4	73169701	73169701	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A6TZ-01A-21D-A32B-08	TCGA-S9-A6TZ-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b34ce7c2-7592-4123-8c4e-50c80b01c9dd	18964457-ef9a-436c-8d75-b11c6c918e6e	g.chr4:73169701T>C	ENST00000286657.4	-	17	2393	c.2357A>G	c.(2356-2358)tAt>tGt	p.Y786C		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	786	Spacer.				collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TTCAATGTTATAATCCCACTC	0.413													5	208					0	0	1	0	0	C	73169701	T	C	73169701	3	2	415	1	0	0	0	0	1	0	0	0	266	1406	49	3	1284	3	ADAMTS3	4	73169701	Missense_Mutation	SNP	T	TCGA-S9-A6TZ-01A-21D-A32B-08	3207382	73169701	117984575	10	34053											
ADH1C	126	broad.mit.edu	37	4	100266127	100266127	+	RNA	SNP	C	C	G			TCGA-S9-A6TZ-01A-21D-A32B-08	TCGA-S9-A6TZ-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b34ce7c2-7592-4123-8c4e-50c80b01c9dd	18964457-ef9a-436c-8d75-b11c6c918e6e	g.chr4:100266127C>G	ENST00000515683.1	-	0	810				ADH1C_ENST00000510055.1_RNA	NM_000669.3	NP_000660.1	P00326	ADH1G_HUMAN	alcohol dehydrogenase 1C (class I), gamma polypeptide						ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|zinc ion binding								OV - Ovarian serous cystadenocarcinoma(123;1.08e-07)	Fomepizole(DB01213)|NADH(DB00157)	CATTCTCATCCACCACTGTGT	0.577													6	73					0	0	1	0	0	G	100266127	C	G	100266127	1	3	415	0	1	0	0	0	0	0	0	0	308	581	21	5		5	ADH1C	4	100266127	RNA	SNP	C	TCGA-S9-A6TZ-01A-21D-A32B-08	27096426	100266127	90888149	11	34054											
NKD2	85409	broad.mit.edu	37	5	1034967	1034967	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6TZ-01A-21D-A32B-08	TCGA-S9-A6TZ-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b34ce7c2-7592-4123-8c4e-50c80b01c9dd	18964457-ef9a-436c-8d75-b11c6c918e6e	g.chr5:1034967G>A	ENST00000296849.5	+	7	752	c.523G>A	c.(523-525)Gtc>Atc	p.V175I	NKD2_ENST00000537972.1_Missense_Mutation_p.V175I|NKD2_ENST00000274150.4_Missense_Mutation_p.V175I	NM_033120.3	NP_149111.1	Q969F2	NKD2_HUMAN	naked cuticle homolog 2 (Drosophila)	175	Interaction with DVL1, DVL2 and DVL3 (By similarity).				exocytosis|Wnt receptor signaling pathway	cytoplasmic membrane-bounded vesicle|plasma membrane	calcium ion binding|ubiquitin protein ligase binding	p.V175I(1)		breast(1)|central_nervous_system(3)|large_intestine(1)|lung(8)|pancreas(1)	14	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;3.28e-09)		Epithelial(17;0.00093)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00417)|Lung(60;0.165)			GAAGCTAACCGTCAGCCCTGA	0.617													7	24					0	0	1	0	0	A	1034967	G	A	1034967	3	1	415	1	0	0	0	0	1	0	0	0	10489	1145	40	1	549	1	NKD2	5	1034967	Missense_Mutation	SNP	G	TCGA-S9-A6TZ-01A-21D-A32B-08		1034967	179880293	12	34055											
NNT	23530	broad.mit.edu	37	5	43649290	43649290	+	Missense_Mutation	SNP	C	C	G			TCGA-S9-A6TZ-01A-21D-A32B-08	TCGA-S9-A6TZ-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b34ce7c2-7592-4123-8c4e-50c80b01c9dd	18964457-ef9a-436c-8d75-b11c6c918e6e	g.chr5:43649290C>G	ENST00000264663.5	+	11	1707	c.1486C>G	c.(1486-1488)Cta>Gta	p.L496V	NNT_ENST00000344920.4_Missense_Mutation_p.L496V|NNT_ENST00000512996.2_Missense_Mutation_p.L365V	NM_012343.3	NP_036475.3	Q13423	NNTM_HUMAN	nicotinamide nucleotide transhydrogenase	496					tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain	NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(6;2.58e-06)				NADH(DB00157)	GGCTCCCAATCTAGCCTTTTC	0.498													109	167					0	0	1	0	0	G	43649290	C	G	43649290	3	3	415	1	0	0	0	0	1	0	0	0	10557	912	32	4	1524	4	NNT	5	43649290	Missense_Mutation	SNP	C	TCGA-S9-A6TZ-01A-21D-A32B-08	42614323	43649290	137265970	13	34056											
PKHD1	5314	broad.mit.edu	37	6	51512879	51512879	+	Missense_Mutation	SNP	G	G	C			TCGA-S9-A6TZ-01A-21D-A32B-08	TCGA-S9-A6TZ-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b34ce7c2-7592-4123-8c4e-50c80b01c9dd	18964457-ef9a-436c-8d75-b11c6c918e6e	g.chr6:51512879G>C	ENST00000371117.3	-	63	11623	c.11348C>G	c.(11347-11349)cCa>cGa	p.P3783R		NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	3783			P -> S (in ARPKD).		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)					AATTGTCCATGGCTCTGAAGG	0.423													27	60					0	0	1	0	0	C	51512879	G	C	51512879	3	2	415	1	0	0	0	0	1	0	0	0	12019	1348	47	5	896	5	PKHD1	6	51512879	Missense_Mutation	SNP	G	TCGA-S9-A6TZ-01A-21D-A32B-08		51512879	119602188	14	34057											
HBS1L	10767	broad.mit.edu	37	6	135314939	135314939	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6TZ-01A-21D-A32B-08	TCGA-S9-A6TZ-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b34ce7c2-7592-4123-8c4e-50c80b01c9dd	18964457-ef9a-436c-8d75-b11c6c918e6e	g.chr6:135314939C>T	ENST00000367837.5	-	8	1246	c.1040G>A	c.(1039-1041)gGc>gAc	p.G347D	HBS1L_ENST00000367824.4_Missense_Mutation_p.G183D|HBS1L_ENST00000367826.2_Missense_Mutation_p.G305D|HBS1L_ENST00000445176.2_Missense_Mutation_p.G71D|HBS1L_ENST00000527578.1_Missense_Mutation_p.G183D|HBS1L_ENST00000415177.2_Missense_Mutation_p.G282D	NM_001145158.1|NM_006620.3	NP_001138630.1|NP_006611.1	Q9Y450	HBS1L_HUMAN	HBS1-like (S. cerevisiae)	347					signal transduction		GTP binding|GTPase activity|translation elongation factor activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	20	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.0046)|GBM - Glioblastoma multiforme(68;0.00702)		GTCCTTATGGCCTGGAGCATC	0.368													3	23					0	0	1	0	0	T	135314939	C	T	135314939	3	4	415	1	0	0	0	0	1	0	0	0	7028	739	26	2	1058	2	HBS1L	6	135314939	Missense_Mutation	SNP	C	TCGA-S9-A6TZ-01A-21D-A32B-08	83802060	135314939	35800128	15	34058											
PMS2	5395	broad.mit.edu	37	7	6026444	6026444	+	Missense_Mutation	SNP	T	T	C	rs143844197	by1000genomes	TCGA-S9-A6TZ-01A-21D-A32B-08	TCGA-S9-A6TZ-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b34ce7c2-7592-4123-8c4e-50c80b01c9dd	18964457-ef9a-436c-8d75-b11c6c918e6e	g.chr7:6026444T>C	ENST00000265849.7	-	11	2057	c.1952A>G	c.(1951-1953)aAg>aGg	p.K651R	PMS2_ENST00000406569.3_Intron|PMS2_ENST00000382321.4_Intron|PMS2_ENST00000441476.2_Missense_Mutation_p.K545R|PMS2_ENST00000469652.1_Intron	NM_000535.5	NP_000526	P54278	PMS2_HUMAN	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)	651					mismatch repair|reciprocal meiotic recombination|somatic hypermutation of immunoglobulin genes	MutLalpha complex	ATP binding|ATPase activity|endonuclease activity|protein binding|single base insertion or deletion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)		AGGACAAATCTTTGCCCTAAA	0.328			"Mis, N, F"			"colorectal, endometrial, ovarian, medulloblastoma, glioma"		Direct reversal of damage;Mismatch excision repair (MMR)	Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				4	96					0	0	1	0	0	C	6026444	T	C	6026444	3	2	415	1	0	0	0	0	1	0	0	0	12191	1609	56	3	656	3	PMS2	7	6026444	Missense_Mutation	SNP	T	TCGA-S9-A6TZ-01A-21D-A32B-08		6026444	153112219	16	34059											
KCND2	3751	broad.mit.edu	37	7	119915148	119915148	+	Silent	SNP	C	C	T			TCGA-S9-A6TZ-01A-21D-A32B-08	TCGA-S9-A6TZ-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b34ce7c2-7592-4123-8c4e-50c80b01c9dd	18964457-ef9a-436c-8d75-b11c6c918e6e	g.chr7:119915148C>T	ENST00000331113.4	+	1	1427	c.462C>T	c.(460-462)acC>acT	p.T154T		NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	154					regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)					ACGCGGATACCGACACCGCTG	0.622													6	101					0	0	1	0	0	T	119915148	C	T	119915148	2	4	415	1	0	0	0	0	0	0	0	1	8063	639	23	1		1	KCND2	7	119915148	Silent	SNP	C	TCGA-S9-A6TZ-01A-21D-A32B-08	113888704	119915148	39223515	17	34060											
CD72	971	broad.mit.edu	37	9	35618218	35618218	+	Splice_Site	SNP	C	C	A			TCGA-S9-A6TZ-01A-21D-A32B-08	TCGA-S9-A6TZ-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b34ce7c2-7592-4123-8c4e-50c80b01c9dd	18964457-ef9a-436c-8d75-b11c6c918e6e	g.chr9:35618218C>A	ENST00000396757.1	-	2	247		c.e2+1		CD72_ENST00000378431.1_Splice_Site|CD72_ENST00000490239.1_Intron|CD72_ENST00000259633.4_Splice_Site|CD72_ENST00000378430.3_Splice_Site			P21854	CD72_HUMAN	CD72 molecule						axon guidance|cell adhesion	integral to plasma membrane	receptor binding|sugar binding|transmembrane receptor activity			large_intestine(5)|liver(1)|lung(6)	12			Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			ATCCCCCTTACCCTGTCCTAA	0.567													26	35					3.65163e-15	3.82832e-15	1	1	0	A	35618218	C	A	35618218	5	1	415	1	0	0	0	0	0	0	1	0	3056	521	18	5	1028	5	CD72	9	35618218	Splice_Site	SNP	C	TCGA-S9-A6TZ-01A-21D-A32B-08		35618218	105595213	18	34061											
MAMDC4	158056	broad.mit.edu	37	9	139752161	139752161	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A6TZ-01A-21D-A32B-08	TCGA-S9-A6TZ-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b34ce7c2-7592-4123-8c4e-50c80b01c9dd	18964457-ef9a-436c-8d75-b11c6c918e6e	g.chr9:139752161A>G	ENST00000445819.1	+	21	2664	c.2614A>G	c.(2614-2616)Acg>Gcg	p.T872A	MAMDC4_ENST00000485732.1_3'UTR|MAMDC4_ENST00000317446.2_Missense_Mutation_p.T793A			Q6UXC1	AEGP_HUMAN	MAM domain containing 4	872	MAM 5.				protein transport	integral to membrane				breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	19	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)		CCGGGGCCAGACGGCCTCCCT	0.677													3	21					0	0	1	0	0	G	139752161	A	G	139752161	3	3	415	1	0	0	0	0	1	0	0	0	9254	275	10	3	2451	3	MAMDC4	9	139752161	Missense_Mutation	SNP	A	TCGA-S9-A6TZ-01A-21D-A32B-08	104133943	139752161	1461270	19	34062											
DCHS1	8642	broad.mit.edu	37	11	6650970	6650970	+	Silent	SNP	G	G	A	rs144759454		TCGA-S9-A6TZ-01A-21D-A32B-08	TCGA-S9-A6TZ-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b34ce7c2-7592-4123-8c4e-50c80b01c9dd	18964457-ef9a-436c-8d75-b11c6c918e6e	g.chr11:6650970G>A	ENST00000299441.3	-	11	5379	c.4968C>T	c.(4966-4968)gtC>gtT	p.V1656V		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	1656	Cadherin 16.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CACGCAAGAGGACGCTGTACT	0.632													11	20					0	0	1	0	0	A	6650970	G	A	6650970	2	1	415	1	0	0	0	0	0	0	0	1	4310	1161	41	2		2	DCHS1	11	6650970	Silent	SNP	G	TCGA-S9-A6TZ-01A-21D-A32B-08		6650970	128355546	20	34063											
CTR9	9646	broad.mit.edu	37	11	10789666	10789666	+	Missense_Mutation	SNP	C	C	G			TCGA-S9-A6TZ-01A-21D-A32B-08	TCGA-S9-A6TZ-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b34ce7c2-7592-4123-8c4e-50c80b01c9dd	18964457-ef9a-436c-8d75-b11c6c918e6e	g.chr11:10789666C>G	ENST00000361367.2	+	15	2344	c.1918C>G	c.(1918-1920)Ctc>Gtc	p.L640V		NM_014633.3	NP_055448.1	Q6PD62	CTR9_HUMAN	CTR9, Paf1/RNA polymerase II complex component	640					histone H2B ubiquitination|histone monoubiquitination	Cdc73/Paf1 complex|nuclear speck				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|pancreas(1)|stomach(1)	40				all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		CAAACAAGTACTCAGAAATGA	0.363													31	40					0	0	1	0	0	G	10789666	C	G	10789666	3	3	415	1	0	0	0	0	1	0	0	0	4048	565	20	4	1976	4	CTR9	11	10789666	Missense_Mutation	SNP	C	TCGA-S9-A6TZ-01A-21D-A32B-08	4138696	10789666	124216850	21	34064											
MRGPRD	116512	broad.mit.edu	37	11	68747597	68747597	+	Silent	SNP	G	G	A			TCGA-S9-A6TZ-01A-21D-A32B-08	TCGA-S9-A6TZ-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b34ce7c2-7592-4123-8c4e-50c80b01c9dd	18964457-ef9a-436c-8d75-b11c6c918e6e	g.chr11:68747597G>A	ENST00000309106.3	-	1	858	c.859C>T	c.(859-861)Ctg>Ttg	p.L287L		NM_198923.2	NP_944605.2	Q8TDS7	MRGRD_HUMAN	MAS-related GPR, member D	287						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2)	22			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			CTGGTGGGCAGCCTGTGGCTC	0.662													16	76					0	0	1	0	0	A	68747597	G	A	68747597	2	1	415	1	0	0	0	0	0	0	0	1	9812	962	34	2		2	MRGPRD	11	68747597	Silent	SNP	G	TCGA-S9-A6TZ-01A-21D-A32B-08	57957931	68747597	66258919	22	34065											
GRIA4	2893	broad.mit.edu	37	11	105845182	105845182	+	Missense_Mutation	SNP	G	G	C			TCGA-S9-A6TZ-01A-21D-A32B-08	TCGA-S9-A6TZ-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b34ce7c2-7592-4123-8c4e-50c80b01c9dd	18964457-ef9a-436c-8d75-b11c6c918e6e	g.chr11:105845182G>C	ENST00000393127.2	+	16	3001	c.2555G>C	c.(2554-2556)aGt>aCt	p.S852T	GRIA4_ENST00000525187.1_Missense_Mutation_p.S852T|GRIA4_ENST00000282499.5_Intron|GRIA4_ENST00000530497.1_Intron|GRIA4_ENST00000533094.1_3'UTR	NM_001077243.2	NP_001070711	P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	852					glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	L-Glutamic Acid(DB00142)	GTGGCAAAGAGTGCACAGACT	0.438													4	79					0	0	1	0	0	C	105845182	G	C	105845182	3	2	415	1	0	0	0	0	1	0	0	0	6811	1029	36	4	2769	4	GRIA4	11	105845182	Missense_Mutation	SNP	G	TCGA-S9-A6TZ-01A-21D-A32B-08	37097585	105845182	29161334	23	34066											
ST14	6768	broad.mit.edu	37	11	130079712	130079712	+	Silent	SNP	G	G	A			TCGA-S9-A6TZ-01A-21D-A32B-08	TCGA-S9-A6TZ-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b34ce7c2-7592-4123-8c4e-50c80b01c9dd	18964457-ef9a-436c-8d75-b11c6c918e6e	g.chr11:130079712G>A	ENST00000278742.5	+	19	2980	c.2562G>A	c.(2560-2562)ggG>ggA	p.G854G		NM_021978.3	NP_068813.1	Q9Y5Y6	ST14_HUMAN	suppression of tumorigenicity 14 (colon carcinoma)	854	Peptidase S1.				proteolysis	integral to plasma membrane	serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|pancreas(2)|prostate(1)|skin(3)	32	all_hematologic(175;0.0429)	Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228)	Urokinase(DB00013)	AGAACACTGGGGTATAGGGGC	0.637													5	108					0	0	1	0	0	A	130079712	G	A	130079712	2	1	415	1	0	0	0	0	0	0	0	1	15267	1219	43	2		2	ST14	11	130079712	Silent	SNP	G	TCGA-S9-A6TZ-01A-21D-A32B-08	24234530	130079712	4926804	24	34067											
HOXC4	3221	broad.mit.edu	37	12	54447975	54447975	+	Missense_Mutation	SNP	A	A	C			TCGA-S9-A6TZ-01A-21D-A32B-08	TCGA-S9-A6TZ-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b34ce7c2-7592-4123-8c4e-50c80b01c9dd	18964457-ef9a-436c-8d75-b11c6c918e6e	g.chr12:54447975A>C	ENST00000430889.2	+	1	315	c.269A>C	c.(268-270)cAc>cCc	p.H90P	HOXC4_ENST00000609810.1_Missense_Mutation_p.H90P|HOXC4_ENST00000303406.4_Missense_Mutation_p.H90P	NM_153633.2	NP_705897.1	P09017	HXC4_HUMAN	homeobox C4	90						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	13						GGCCACCACCACCCCGAGAAA	0.736													7	44					0	0	1	0	0	C	54447975	A	C	54447975	3	2	415	1	0	0	0	0	1	0	0	0	7354	159	6	5	271	5	HOXC4	12	54447975	Missense_Mutation	SNP	A	TCGA-S9-A6TZ-01A-21D-A32B-08		54447975	79403920	25	34068											
BRCA2	675	broad.mit.edu	37	13	32912670	32912670	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6TZ-01A-21D-A32B-08	TCGA-S9-A6TZ-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b34ce7c2-7592-4123-8c4e-50c80b01c9dd	18964457-ef9a-436c-8d75-b11c6c918e6e	g.chr13:32912670C>T	ENST00000544455.1	+	11	4405	c.4178C>T	c.(4177-4179)gCg>gTg	p.A1393V	BRCA2_ENST00000380152.3_Missense_Mutation_p.A1393V	NM_000059.3	NP_000050	P51587	BRCA2_HUMAN	breast cancer 2, early onset	1393					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		TTGGAAGTTGCGAAAGCTCAA	0.333			"D, Mis, N, F, S"		"breast, ovarian, pancreatic"	"breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			25	37					0	0	1	0	0	T	32912670	C	T	32912670	3	4	415	1	0	0	0	0	1	0	0	0	1501	768	27	1	4216	1	BRCA2	13	32912670	Missense_Mutation	SNP	C	TCGA-S9-A6TZ-01A-21D-A32B-08		32912670	82257208	26	34069											
GPC6	10082	broad.mit.edu	37	13	93879733	93879733	+	Silent	SNP	G	G	T			TCGA-S9-A6TZ-01A-21D-A32B-08	TCGA-S9-A6TZ-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b34ce7c2-7592-4123-8c4e-50c80b01c9dd	18964457-ef9a-436c-8d75-b11c6c918e6e	g.chr13:93879733G>T	ENST00000377047.4	+	1	639	c.24G>T	c.(22-24)gtG>gtT	p.V8V		NM_005708.3	NP_005699.1	Q9Y625	GPC6_HUMAN	glypican 6	8						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	38	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217)				TCGGGGCTGTGATTCTTCCCC	0.642											OREG0022460	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	88					0.0167234	0.0169847	1	1	0	T	93879733	G	T	93879733	2	4	415	1	0	0	0	0	0	0	0	1	6642	1277	45	5		5	GPC6	13	93879733	Silent	SNP	G	TCGA-S9-A6TZ-01A-21D-A32B-08	60967063	93879733	21290145	27	34070											
POMT2	29954	broad.mit.edu	37	14	77765887	77765887	+	Silent	SNP	G	G	A			TCGA-S9-A6TZ-01A-21D-A32B-08	TCGA-S9-A6TZ-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b34ce7c2-7592-4123-8c4e-50c80b01c9dd	18964457-ef9a-436c-8d75-b11c6c918e6e	g.chr14:77765887G>A	ENST00000261534.4	-	7	1036	c.834C>T	c.(832-834)caC>caT	p.H278H		NM_013382.5	NP_037514.2	Q9UKY4	POMT2_HUMAN	protein-O-mannosyltransferase 2	278					protein O-linked glycosylation	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-mannose-protein mannosyltransferase activity|metal ion binding			breast(2)|endometrium(2)|large_intestine(1)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	14			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0292)		GAGCAGTCAGGTGTTTTCCCA	0.498													9	62					0	0	1	0	0	A	77765887	G	A	77765887	2	1	415	1	0	0	0	0	0	0	0	1	12294	1252	44	2		2	POMT2	14	77765887	Silent	SNP	G	TCGA-S9-A6TZ-01A-21D-A32B-08		77765887	29583653	28	34071											
TCF12	6938	broad.mit.edu	37	15	57523394	57523394	+	Frame_Shift_Del	DEL	T	T	-			TCGA-S9-A6TZ-01A-21D-A32B-08	TCGA-S9-A6TZ-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b34ce7c2-7592-4123-8c4e-50c80b01c9dd	18964457-ef9a-436c-8d75-b11c6c918e6e	g.chr15:57523394delT	ENST00000267811.5	+	9	928	c.624delT	c.(622-624)tctfs	p.S208fs	TCF12_ENST00000560764.1_3'UTR|TCF12_ENST00000543579.1_Frame_Shift_Del_p.S38fs|TCF12_ENST00000333725.5_Frame_Shift_Del_p.S208fs|TCF12_ENST00000557843.1_Frame_Shift_Del_p.S208fs|TCF12_ENST00000438423.2_Frame_Shift_Del_p.S208fs|TCF12_ENST00000452095.2_Frame_Shift_Del_p.S204fs|TCF12_ENST00000537840.1_Frame_Shift_Del_p.L20fs|TCF12_ENST00000343827.3_Frame_Shift_Del_p.S38fs	NM_003205.3|NM_207038.1	NP_003196.1|NP_996921.1	Q99081	HTF4_HUMAN	transcription factor 12	208					immune response|muscle organ development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity		TCF12/NR4A3(2)	breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	36		Colorectal(260;0.0907)		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)		ACCGTGAATCTCCTAGTTATC	0.353			T	TEC	extraskeletal myxoid chondrosarcoma								45	106	---	---	---	---						-	57523394	T	-	57523394	7	5	415	1	0	1	0	1	0	0	0	0	15747	1538	54	0	727	0	TCF12	15	57523394	Frame_Shift_Del	DEL	T	TCGA-S9-A6TZ-01A-21D-A32B-08		57523394	45007998	29	34072											
ZP2	7783	broad.mit.edu	37	16	21212828	21212828	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A6TZ-01A-21D-A32B-08	TCGA-S9-A6TZ-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b34ce7c2-7592-4123-8c4e-50c80b01c9dd	18964457-ef9a-436c-8d75-b11c6c918e6e	g.chr16:21212828A>G	ENST00000574002.1	-	15	2038	c.1556T>C	c.(1555-1557)tTc>tCc	p.F519S	ZP2_ENST00000574091.1_Missense_Mutation_p.F510S|ZP2_ENST00000219593.4_Missense_Mutation_p.F519S|AF001550.7_ENST00000572747.1_RNA			Q05996	ZP2_HUMAN	zona pellucida glycoprotein 2 (sperm receptor)	519	ZP.				binding of sperm to zona pellucida|intracellular protein transport	endoplasmic reticulum|Golgi apparatus|integral to membrane|multivesicular body|plasma membrane|proteinaceous extracellular matrix|stored secretory granule	acrosin binding|coreceptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(16)|ovary(1)|prostate(1)|stomach(1)	41				GBM - Glioblastoma multiforme(48;0.0573)		TTGGCGGAGGAATCTCACTAG	0.448													6	117					0	0	1	0	0	G	21212828	A	G	21212828	3	3	415	1	0	0	0	0	1	0	0	0	18258	246	9	3	705	3	ZP2	16	21212828	Missense_Mutation	SNP	A	TCGA-S9-A6TZ-01A-21D-A32B-08		21212828	69141925	30	34073											
POLR2A	5430	broad.mit.edu	37	17	7412932	7412932	+	Missense_Mutation	SNP	A	A	T			TCGA-S9-A6TZ-01A-21D-A32B-08	TCGA-S9-A6TZ-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b34ce7c2-7592-4123-8c4e-50c80b01c9dd	18964457-ef9a-436c-8d75-b11c6c918e6e	g.chr17:7412932A>T	ENST00000322644.6	+	22	4193	c.3794A>T	c.(3793-3795)gAt>gTt	p.D1265V		NM_000937.4	NP_000928	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	1265					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				ATGAACAGCGATGAGAACAAG	0.458													13	115					0	0	1	0	0	T	7412932	A	T	7412932	3	4	415	1	0	0	0	0	1	0	0	0	12262	333	12	4	3880	4	POLR2A	17	7412932	Missense_Mutation	SNP	A	TCGA-S9-A6TZ-01A-21D-A32B-08		7412932	73782278	31	34074											
TP53	7157	broad.mit.edu	37	17	7577539	7577539	+	Missense_Mutation	SNP	G	G	A	rs121912651		TCGA-S9-A6TZ-01A-21D-A32B-08	TCGA-S9-A6TZ-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b34ce7c2-7592-4123-8c4e-50c80b01c9dd	18964457-ef9a-436c-8d75-b11c6c918e6e	g.chr17:7577539G>A	ENST00000420246.2	-	7	874	c.742C>T	c.(742-744)Cgg>Tgg	p.R248W	TP53_ENST00000269305.4_Missense_Mutation_p.R248W|TP53_ENST00000359597.4_Missense_Mutation_p.R248W|TP53_ENST00000455263.2_Missense_Mutation_p.R248W|TP53_ENST00000445888.2_Missense_Mutation_p.R248W|TP53_ENST00000413465.2_Missense_Mutation_p.R248W	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	248	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R248W(544)|p.R155W(28)|p.R248G(12)|p.0?(8)|p.?(5)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.N247_R248>KW(2)|p.M246_P250delMNRRP(2)|p.R248fs*97(2)|p.R248R(2)|p.R248fs*>39(1)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(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)		ATGGGCCTCCGGTTCATGCCG	0.577	R248W(786O_KIDNEY)|R248W(CAS1_CENTRAL_NERVOUS_SYSTEM)|R248W(COLO320_LARGE_INTESTINE)|R248W(COLO680N_OESOPHAGUS)|R248W(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(GCT_SOFT_TISSUE)|R248W(HCC2157_BREAST)|R248W(JIMT1_BREAST)|R248W(KO52_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(LUDLU1_LUNG)|R248W(LXF289_LUNG)|R248W(MIAPACA2_PANCREAS)|R248W(RD_SOFT_TISSUE)|R248W(SW837_LARGE_INTESTINE)|R248W(VCAP_PROSTATE)	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)			5	35					0	0	1	0	0	A	7577539	G	A	7577539	3	1	415	1	0	0	0	0	1	0	0	0	16442	1115	39	1	548	1	TP53	17	7577539	Missense_Mutation	SNP	G	TCGA-S9-A6TZ-01A-21D-A32B-08	164607	7577539	73617671	32	34075											
KSR1	8844	broad.mit.edu	37	17	25937180	25937180	+	Silent	SNP	G	G	A			TCGA-S9-A6TZ-01A-21D-A32B-08	TCGA-S9-A6TZ-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b34ce7c2-7592-4123-8c4e-50c80b01c9dd	18964457-ef9a-436c-8d75-b11c6c918e6e	g.chr17:25937180G>A	ENST00000398988.3	+	19	2413	c.1968G>A	c.(1966-1968)gaG>gaA	p.E656E	KSR1_ENST00000268763.6_Silent_p.E656E|KSR1_ENST00000319524.6_Silent_p.E793E|KSR1_ENST00000582410.1_Silent_p.E7E|KSR1_ENST00000509603.2_Silent_p.E771E	NM_014238.1	NP_055053.1	Q8IVT5	KSR1_HUMAN	kinase suppressor of ras 1	791	Protein kinase.				Ras protein signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	28	Lung NSC(42;0.00836)		BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		GGAAGGACGAGGATCAGCTGC	0.587											OREG0024262	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	38	56					0	0	1	0	0	A	25937180	G	A	25937180	2	1	415	1	0	0	0	0	0	0	0	1	8620	991	35	2		2	KSR1	17	25937180	Silent	SNP	G	TCGA-S9-A6TZ-01A-21D-A32B-08	18359641	25937180	55258030	33	34076											
TMEM104	54868	broad.mit.edu	37	17	72832755	72832755	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6TZ-01A-21D-A32B-08	TCGA-S9-A6TZ-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b34ce7c2-7592-4123-8c4e-50c80b01c9dd	18964457-ef9a-436c-8d75-b11c6c918e6e	g.chr17:72832755G>A	ENST00000335464.5	+	10	1582	c.1420G>A	c.(1420-1422)Gtg>Atg	p.V474M	TMEM104_ENST00000417024.2_Intron|TMEM104_ENST00000582330.1_Missense_Mutation_p.V474M|TMEM104_ENST00000582773.1_Intron	NM_017728.3	NP_060198.3	Q8NE00	TM104_HUMAN	transmembrane protein 104	474						integral to membrane				NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(5)|ovary(1)	19	all_lung(278;0.23)					GGTGGGCTTCGTGCTGCTCTG	0.592													29	32					0	0	1	0	0	A	72832755	G	A	72832755	3	1	415	1	0	0	0	0	1	0	0	0	16078	1145	40	1	1454	1	TMEM104	17	72832755	Missense_Mutation	SNP	G	TCGA-S9-A6TZ-01A-21D-A32B-08	46895575	72832755	8362455	34	34077											
CBX4	8535	broad.mit.edu	37	17	77808940	77808940	+	Missense_Mutation	SNP	T	T	A			TCGA-S9-A6TZ-01A-21D-A32B-08	TCGA-S9-A6TZ-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b34ce7c2-7592-4123-8c4e-50c80b01c9dd	18964457-ef9a-436c-8d75-b11c6c918e6e	g.chr17:77808940T>A	ENST00000269397.4	-	5	678	c.501A>T	c.(499-501)aaA>aaT	p.K167N	CBX4_ENST00000448310.1_3'UTR	NM_003655.2	NP_003646.2	O00257	CBX4_HUMAN	chromobox homolog 4	167	Interaction with BMI1.				anti-apoptosis|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|PcG protein complex	enzyme binding|transcription corepressor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			GGTCGTACATTTTGGGGTCGG	0.687											OREG0024799	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	107					0	0	1	0	0	A	77808940	T	A	77808940	3	1	415	1	0	0	0	0	1	0	0	0	2738	1838	64	5	1185	5	CBX4	17	77808940	Missense_Mutation	SNP	T	TCGA-S9-A6TZ-01A-21D-A32B-08	4976185	77808940	3386270	35	34078											
ARHGAP33	115703	broad.mit.edu	37	19	36268615	36268615	+	Silent	SNP	G	G	A			TCGA-S9-A6TZ-01A-21D-A32B-08	TCGA-S9-A6TZ-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b34ce7c2-7592-4123-8c4e-50c80b01c9dd	18964457-ef9a-436c-8d75-b11c6c918e6e	g.chr19:36268615G>A	ENST00000007510.4	+	2	219	c.75G>A	c.(73-75)ggG>ggA	p.G25G	ARHGAP33_ENST00000221905.1_3'UTR|ARHGAP33_ENST00000314737.5_Silent_p.G25G|ARHGAP33_ENST00000378944.5_Intron			O14559	RHG33_HUMAN	Rho GTPase activating protein 33	25					cell communication|protein transport|signal transduction	intracellular	GTPase activator activity|phosphatidylinositol binding|protein binding			endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	37						CTGCTGGGGGGCCCAGTGTGA	0.642													3	7					0	0	1	0	0	A	36268615	G	A	36268615	2	1	415	1	0	0	0	0	0	0	0	1	879	1190	42	2		2	ARHGAP33	19	36268615	Silent	SNP	G	TCGA-S9-A6TZ-01A-21D-A32B-08		36268615	22860368	36	34079											
RCN3	57333	broad.mit.edu	37	19	50031918	50031918	+	Silent	SNP	A	A	G			TCGA-S9-A6TZ-01A-21D-A32B-08	TCGA-S9-A6TZ-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b34ce7c2-7592-4123-8c4e-50c80b01c9dd	18964457-ef9a-436c-8d75-b11c6c918e6e	g.chr19:50031918A>G	ENST00000270645.3	+	2	636	c.189A>G	c.(187-189)gaA>gaG	p.E63E	RCN3_ENST00000593644.1_3'UTR	NM_020650.2	NP_065701.2	Q96D15	RCN3_HUMAN	reticulocalbin 3, EF-hand calcium binding domain	63						endoplasmic reticulum lumen	calcium ion binding|protein binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00295)|GBM - Glioblastoma multiforme(134;0.0159)		TGGGACGGGAAGTGGCCAAGG	0.637													39	26					0	0	1	0	0	G	50031918	A	G	50031918	2	3	415	1	0	0	0	0	0	0	0	1	13233	69	3	3		3	RCN3	19	50031918	Silent	SNP	A	TCGA-S9-A6TZ-01A-21D-A32B-08	13763303	50031918	9097065	37	34080											
TCEA2	6919	broad.mit.edu	37	20	62701881	62701881	+	Missense_Mutation	SNP	A	A	T			TCGA-S9-A6TZ-01A-21D-A32B-08	TCGA-S9-A6TZ-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b34ce7c2-7592-4123-8c4e-50c80b01c9dd	18964457-ef9a-436c-8d75-b11c6c918e6e	g.chr20:62701881A>T	ENST00000361317.2	+	9	1073	c.631A>T	c.(631-633)Atg>Ttg	p.M211L	TCEA2_ENST00000465111.1_3'UTR|TCEA2_ENST00000343484.5_Missense_Mutation_p.M238L|TCEA2_ENST00000395053.3_3'UTR	NM_198723.1	NP_942016.1	Q15560	TCEA2_HUMAN	transcription elongation factor A (SII), 2	238	TFIIS central.				regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription elongation, DNA-dependent	transcription elongation factor complex	DNA binding|protein binding|translation elongation factor activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)	12	all_cancers(38;3.45e-11)|all_epithelial(29;9.12e-13)|Lung NSC(23;2e-09)|all_lung(23;6.77e-09)					CCGTAAGGCCATGACCAAGGA	0.632													24	40					0	0	1	0	0	T	62701881	A	T	62701881	3	4	415	1	0	0	0	0	1	0	0	0	15728	217	8	4	742	4	TCEA2	20	62701881	Missense_Mutation	SNP	A	TCGA-S9-A6TZ-01A-21D-A32B-08		62701881	323639	38	34081											
SHROOM2	357	broad.mit.edu	37	X	9863274	9863274	+	Missense_Mutation	SNP	C	C	A			TCGA-S9-A6TZ-01A-21D-A32B-08	TCGA-S9-A6TZ-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b34ce7c2-7592-4123-8c4e-50c80b01c9dd	18964457-ef9a-436c-8d75-b11c6c918e6e	g.chrX:9863274C>A	ENST00000380913.3	+	4	1416	c.1326C>A	c.(1324-1326)agC>agA	p.S442R		NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN	shroom family member 2	442					apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization	apical plasma membrane|cell-cell adherens junction|microtubule|tight junction	actin filament binding|beta-catenin binding|ligand-gated sodium channel activity			breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57		Hepatocellular(5;0.000888)				GTGCTGACAGCCTTGGGCAGG	0.652													6	90					0.248553	0.248553	1	1	0	A	9863274	C	A	9863274	3	1	415	1	0	0	0	0	1	0	0	0	14349	738	26	5	1340	5	SHROOM2	23	9863274	Missense_Mutation	SNP	C	TCGA-S9-A6TZ-01A-21D-A32B-08		9863274	145407286	39	34082											
ESX1	80712	broad.mit.edu	37	X	103495451	103495451	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6TZ-01A-21D-A32B-08	TCGA-S9-A6TZ-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b34ce7c2-7592-4123-8c4e-50c80b01c9dd	18964457-ef9a-436c-8d75-b11c6c918e6e	g.chrX:103495451G>A	ENST00000372588.4	-	4	762	c.679C>T	c.(679-681)Cct>Tct	p.P227S		NM_153448.3	NP_703149.1	Q8N693	ESX1_HUMAN	ESX homeobox 1	227					negative regulation of transcription, DNA-dependent|regulation of cell cycle	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(10)|lung(12)|ovary(1)|skin(2)	27						TCCAGAGCAGGAGCAGCATAA	0.552													14	209					0	0	1	0	0	A	103495451	G	A	103495451	3	1	415	1	0	0	0	0	1	0	0	0	5291	1174	41	2	545	2	ESX1	23	103495451	Missense_Mutation	SNP	G	TCGA-S9-A6TZ-01A-21D-A32B-08	93632177	103495451	51775109	40	34083											
CUL4B	8450	broad.mit.edu	37	X	119674329	119674329	+	Missense_Mutation	SNP	A	A	T			TCGA-S9-A6TZ-01A-21D-A32B-08	TCGA-S9-A6TZ-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b34ce7c2-7592-4123-8c4e-50c80b01c9dd	18964457-ef9a-436c-8d75-b11c6c918e6e	g.chrX:119674329A>T	ENST00000371322.5	-	11	1593	c.1532T>A	c.(1531-1533)aTa>aAa	p.I511K	CUL4B_ENST00000404115.3_Missense_Mutation_p.I529K|CUL4B_ENST00000336592.6_Missense_Mutation_p.I516K	NM_001079872.1	NP_001073341.1	Q13620	CUL4B_HUMAN	cullin 4B	529					cell cycle|DNA repair|ubiquitin-dependent protein catabolic process	Cul4B-RING ubiquitin ligase complex|nucleus	protein binding|ubiquitin protein ligase binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						GATATCAATTATATGGTCAAC	0.308													4	64					0	0	1	0	0	T	119674329	A	T	119674329	3	4	415	1	0	0	0	0	1	0	0	0	4081	449	16	4	1195	4	CUL4B	23	119674329	Missense_Mutation	SNP	A	TCGA-S9-A6TZ-01A-21D-A32B-08	16178878	119674329	35596231	41	34084											
RAP2C	57826	broad.mit.edu	37	X	131348314	131348314	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6TZ-01A-21D-A32B-08	TCGA-S9-A6TZ-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b34ce7c2-7592-4123-8c4e-50c80b01c9dd	18964457-ef9a-436c-8d75-b11c6c918e6e	g.chrX:131348314G>A	ENST00000342983.2	-	3	1180	c.434C>T	c.(433-435)aCa>aTa	p.T145I	RAP2C_ENST00000370874.1_Missense_Mutation_p.T145I|RAP2C_ENST00000460462.1_5'UTR	NM_001271187.1|NM_021183.4	NP_001258116.1|NP_067006.3	Q9Y3L5	RAP2C_HUMAN	RAP2C, member of RAS oncogene family	145					negative regulation of cell migration|positive regulation of protein autophosphorylation|Rap protein signal transduction|regulation of protein tyrosine kinase activity	recycling endosome membrane	GTP binding|GTPase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|ovary(1)|upper_aerodigestive_tract(2)	8	Acute lymphoblastic leukemia(192;0.000127)					TTTTGCCGATGTCTCCATGAA	0.443													25	67					0	0	1	0	0	A	131348314	G	A	131348314	3	1	415	1	0	0	0	0	1	0	0	0	13094	1377	48	2	121	2	RAP2C	23	131348314	Missense_Mutation	SNP	G	TCGA-S9-A6TZ-01A-21D-A32B-08	11673985	131348314	23922246	42	34085											
F9	2158	broad.mit.edu	37	X	138643011	138643011	+	Missense_Mutation	SNP	G	G	A	rs137852247		TCGA-S9-A6TZ-01A-21D-A32B-08	TCGA-S9-A6TZ-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b34ce7c2-7592-4123-8c4e-50c80b01c9dd	18964457-ef9a-436c-8d75-b11c6c918e6e	g.chrX:138643011G>A	ENST00000218099.2	+	7	842	c.835G>A	c.(835-837)Gca>Aca	p.A279T	F9_ENST00000394090.2_Missense_Mutation_p.A241T	NM_000133.3	NP_000124.1	P00740	FA9_HUMAN	coagulation factor IX	279	Peptidase S1.		A -> T (in HEMB; mild).		blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen|plasma membrane	calcium ion binding|serine-type endopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|skin(1)	35	Acute lymphoblastic leukemia(192;0.000127)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Heparin(DB01109)|Menadione(DB00170)	TACAGTTGTCGCAGGTAAATA	0.353													32	98					0	0	1	0	0	A	138643011	G	A	138643011	3	1	415	1	0	0	0	0	1	0	0	0	5382	1087	38	1	861	1	F9	23	138643011	Missense_Mutation	SNP	G	TCGA-S9-A6TZ-01A-21D-A32B-08	7294697	138643011	16627549	43	34086											
MAGEA11	4110	broad.mit.edu	37	X	148797890	148797890	+	Missense_Mutation	SNP	G	G	C			TCGA-S9-A6TZ-01A-21D-A32B-08	TCGA-S9-A6TZ-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b34ce7c2-7592-4123-8c4e-50c80b01c9dd	18964457-ef9a-436c-8d75-b11c6c918e6e	g.chrX:148797890G>C	ENST00000355220.5	+	5	846	c.744G>C	c.(742-744)atG>atC	p.M248I	MAGEA11_ENST00000333104.4_Missense_Mutation_p.M219I	NM_005366.4	NP_005357.2	P43364	MAGAB_HUMAN	melanoma antigen family A, 11	248	MAGE.					cytoplasm|nucleus	protein binding			cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	9	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					AGGCAGAAATGCTGGGGAGTG	0.413													7	165					0	0	1	0	0	C	148797890	G	C	148797890	3	2	415	1	0	0	0	0	1	0	0	0	9211	1319	46	5	771	5	MAGEA11	23	148797890	Missense_Mutation	SNP	G	TCGA-S9-A6TZ-01A-21D-A32B-08	10154879	148797890	6472670	44	34087											
HIVEP3	59269	broad.mit.edu	37	1	41990468	41990468	+	Missense_Mutation	SNP	C	C	A			TCGA-S9-A6U0-01A-12D-A32B-08	TCGA-S9-A6U0-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57e03857-ca5a-4be2-a3a7-cc0f01009cc1	43340bd6-bcc0-4da3-8241-5718570d94dc	g.chr1:41990468C>A	ENST00000372584.1	-	5	6335	c.5321G>T	c.(5320-5322)cGc>cTc	p.R1774L	HIVEP3_ENST00000429157.2_Missense_Mutation_p.R1774L|HIVEP3_ENST00000460604.1_Intron|HIVEP3_ENST00000247584.5_Missense_Mutation_p.R1774L|HIVEP3_ENST00000372583.1_Missense_Mutation_p.R1774L	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	1774	ZAS2.				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)				AGTGTGGGTGCGGATGTGTTT	0.537													3	73					0.004672	0.004672	1	1	0	A	41990468	C	A	41990468	3	1	416	1	0	0	0	0	1	0	0	0	7229	768	27	5	1915	5	HIVEP3	1	41990468	Missense_Mutation	SNP	C	TCGA-S9-A6U0-01A-12D-A32B-08		41990468	207260153	1	34088											
PGLYRP4	57115	broad.mit.edu	37	1	153317834	153317834	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6U0-01A-12D-A32B-08	TCGA-S9-A6U0-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57e03857-ca5a-4be2-a3a7-cc0f01009cc1	43340bd6-bcc0-4da3-8241-5718570d94dc	g.chr1:153317834G>A	ENST00000368739.3	-	4	510	c.152C>T	c.(151-153)aCg>aTg	p.T51M	PGLYRP4_ENST00000359650.5_Missense_Mutation_p.T55M|PGLYRP4_ENST00000490266.1_5'UTR			Q96LB8	PGRP4_HUMAN	peptidoglycan recognition protein 4	55					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding	p.T55M(1)		breast(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	23	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			GCGAGAGACCGTGGTGGAGAC	0.587													22	55					0	0	1	0	0	A	153317834	G	A	153317834	3	1	416	1	0	0	0	0	1	0	0	0	11844	1145	40	1	981	1	PGLYRP4	1	153317834	Missense_Mutation	SNP	G	TCGA-S9-A6U0-01A-12D-A32B-08	111327366	153317834	95932787	2	34089											
SPTA1	6708	broad.mit.edu	37	1	158648254	158648254	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6U0-01A-12D-A32B-08	TCGA-S9-A6U0-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57e03857-ca5a-4be2-a3a7-cc0f01009cc1	43340bd6-bcc0-4da3-8241-5718570d94dc	g.chr1:158648254C>T	ENST00000368147.4	-	6	929	c.749G>A	c.(748-750)cGt>cAt	p.R250H		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)						actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	p.R250H(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					AGCCAAACCACGAAGGCGCTC	0.438													17	46					0	0	1	0	0	T	158648254	C	T	158648254	3	4	416	1	0	0	0	0	1	0	0	0	15172	536	19	1	6698	1	SPTA1	1	158648254	Missense_Mutation	SNP	C	TCGA-S9-A6U0-01A-12D-A32B-08	5330420	158648254	90602367	3	34090											
RYR2	6262	broad.mit.edu	37	1	237947854	237947854	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6U0-01A-12D-A32B-08	TCGA-S9-A6U0-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57e03857-ca5a-4be2-a3a7-cc0f01009cc1	43340bd6-bcc0-4da3-8241-5718570d94dc	g.chr1:237947854C>T	ENST00000366574.2	+	90	13159	c.12842C>T	c.(12841-12843)aCg>aTg	p.T4281M	RYR2_ENST00000360064.6_Missense_Mutation_p.T4287M|RYR2_ENST00000609119.1_3'UTR|RYR2_ENST00000542537.1_Missense_Mutation_p.T4265M	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4281					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GACATGGTCACGGCCTTCTTT	0.458													6	35					0	0	1	0	0	T	237947854	C	T	237947854	3	4	416	1	0	0	0	0	1	0	0	0	13821	536	19	1	13200	1	RYR2	1	237947854	Missense_Mutation	SNP	C	TCGA-S9-A6U0-01A-12D-A32B-08	79299600	237947854	11302767	4	34091											
C2orf78	388960	broad.mit.edu	37	2	74042529	74042529	+	Silent	SNP	C	C	T	rs143445466	by1000genomes	TCGA-S9-A6U0-01A-12D-A32B-08	TCGA-S9-A6U0-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57e03857-ca5a-4be2-a3a7-cc0f01009cc1	43340bd6-bcc0-4da3-8241-5718570d94dc	g.chr2:74042529C>T	ENST00000409561.1	+	3	1300	c.1179C>T	c.(1177-1179)ccC>ccT	p.P393P		NM_001080474.1	NP_001073943.1	A6NCI8	CB078_HUMAN	chromosome 2 open reading frame 78	393										cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1)	34						TAGAAATCCCCGATATTCACC	0.448													7	33					0	0	1	0	0	T	74042529	C	T	74042529	2	4	416	1	0	0	0	0	0	0	0	1	2209	639	23	1		1	C2orf78	2	74042529	Silent	SNP	C	TCGA-S9-A6U0-01A-12D-A32B-08		74042529	169156844	5	34092											
INSIG2	51141	broad.mit.edu	37	2	118854303	118854303	+	Silent	SNP	C	C	T	rs138954785		TCGA-S9-A6U0-01A-12D-A32B-08	TCGA-S9-A6U0-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57e03857-ca5a-4be2-a3a7-cc0f01009cc1	43340bd6-bcc0-4da3-8241-5718570d94dc	g.chr2:118854303C>T	ENST00000245787.4	+	2	377	c.171C>T	c.(169-171)ctC>ctT	p.L57L	INSIG2_ENST00000485520.1_Intron	NM_016133.2	NP_057217.2	Q9Y5U4	INSI2_HUMAN	insulin induced gene 2	57					ER-nuclear sterol response pathway	SREBP-SCAP-Insig complex				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)	13						ATGTGACGCTCTTTCCACCTG	0.413													4	99					0	0	1	0	0	T	118854303	C	T	118854303	2	4	416	1	0	0	0	0	0	0	0	1	7810	900	32	2		2	INSIG2	2	118854303	Silent	SNP	C	TCGA-S9-A6U0-01A-12D-A32B-08	44811774	118854303	124345070	6	34093											
ZDBF2	57683	broad.mit.edu	37	2	207169615	207169615	+	Silent	SNP	T	T	A			TCGA-S9-A6U0-01A-12D-A32B-08	TCGA-S9-A6U0-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57e03857-ca5a-4be2-a3a7-cc0f01009cc1	43340bd6-bcc0-4da3-8241-5718570d94dc	g.chr2:207169615T>A	ENST00000374423.3	+	5	749	c.363T>A	c.(361-363)ccT>ccA	p.P121P		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	121							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						ATTCCAGACCTCATAAATCTC	0.453													3	23					0	0	1	0	0	A	207169615	T	A	207169615	2	1	416	1	0	0	0	0	0	0	0	1	17657	1538	54	5		5	ZDBF2	2	207169615	Silent	SNP	T	TCGA-S9-A6U0-01A-12D-A32B-08	88315312	207169615	36029758	7	34094											
PIK3CA	5290	broad.mit.edu	37	3	178947865	178947865	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6U0-01A-12D-A32B-08	TCGA-S9-A6U0-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57e03857-ca5a-4be2-a3a7-cc0f01009cc1	43340bd6-bcc0-4da3-8241-5718570d94dc	g.chr3:178947865G>A	ENST00000263967.3	+	19	2897	c.2740G>A	c.(2740-2742)Gga>Aga	p.G914R		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	914	PI3K/PI4K.				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity			NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TTTGGGAATTGGAGATCGTCA	0.358		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			34	133					0	0	1	0	0	A	178947865	G	A	178947865	3	1	416	1	0	0	0	0	1	0	0	0	11961	1349	47	2	2810	2	PIK3CA	3	178947865	Missense_Mutation	SNP	G	TCGA-S9-A6U0-01A-12D-A32B-08		178947865	19074565	8	34095											
TP63	8626	broad.mit.edu	37	3	189586471	189586471	+	Silent	SNP	G	G	A			TCGA-S9-A6U0-01A-12D-A32B-08	TCGA-S9-A6U0-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57e03857-ca5a-4be2-a3a7-cc0f01009cc1	43340bd6-bcc0-4da3-8241-5718570d94dc	g.chr3:189586471G>A	ENST00000264731.3	+	8	1184	c.1095G>A	c.(1093-1095)tcG>tcA	p.S365S	TP63_ENST00000418709.2_Silent_p.S365S|TP63_ENST00000456148.1_Silent_p.S271S|TP63_ENST00000354600.5_Silent_p.S271S|TP63_ENST00000437221.1_Silent_p.S271S|TP63_ENST00000382063.4_Silent_p.S280S|TP63_ENST00000392463.2_Silent_p.S271S|TP63_ENST00000449992.1_Silent_p.S186S|TP63_ENST00000320472.5_Silent_p.S365S|TP63_ENST00000392461.3_Silent_p.S271S|TP63_ENST00000440651.2_Silent_p.S365S|TP63_ENST00000392460.3_Silent_p.S365S	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	365	Interaction with HIPK2.				anti-apoptosis|cellular response to UV|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|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		AGCAAGTTTCGGACAGTACAA	0.532										HNSCC(45;0.13)			16	59					0	0	1	0	0	A	189586471	G	A	189586471	2	1	416	1	0	0	0	0	0	0	0	1	16453	1103	39	1		1	TP63	3	189586471	Silent	SNP	G	TCGA-S9-A6U0-01A-12D-A32B-08	10638606	189586471	8435959	9	34096											
SULT1B1	27284	broad.mit.edu	37	4	70620861	70620861	+	Silent	SNP	T	T	C			TCGA-S9-A6U0-01A-12D-A32B-08	TCGA-S9-A6U0-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57e03857-ca5a-4be2-a3a7-cc0f01009cc1	43340bd6-bcc0-4da3-8241-5718570d94dc	g.chr4:70620861T>C	ENST00000310613.3	-	2	372	c.75A>G	c.(73-75)gcA>gcG	p.A25A		NM_014465.3	NP_055280.2	O43704	ST1B1_HUMAN	sulfotransferase family, cytosolic, 1B, member 1						3'-phosphoadenosine 5'-phosphosulfate metabolic process|cellular biogenic amine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|thyroid hormone metabolic process|xenobiotic metabolic process	cytosol				breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(14)|prostate(1)|upper_aerodigestive_tract(1)	24						CCCAGTTGCTTGCAAAAGCAC	0.388													23	95					0	0	1	0	0	C	70620861	T	C	70620861	2	2	416	1	0	0	0	0	0	0	0	1	15432	1799	63	3		3	SULT1B1	4	70620861	Silent	SNP	T	TCGA-S9-A6U0-01A-12D-A32B-08		70620861	120533415	10	34097											
RCHY1	25898	broad.mit.edu	37	4	76419364	76419364	+	Frame_Shift_Del	DEL	G	G	-			TCGA-S9-A6U0-01A-12D-A32B-08	TCGA-S9-A6U0-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57e03857-ca5a-4be2-a3a7-cc0f01009cc1	43340bd6-bcc0-4da3-8241-5718570d94dc	g.chr4:76419364delG	ENST00000324439.5	-	4	750	c.352delC	c.(352-354)catfs	p.H118fs	RCHY1_ENST00000514021.1_5'UTR|RCHY1_ENST00000512706.1_Frame_Shift_Del_p.H96fs|RCHY1_ENST00000451788.1_Frame_Shift_Del_p.H118fs|RCHY1_ENST00000380840.2_Frame_Shift_Del_p.H78fs|RCHY1_ENST00000513257.1_Frame_Shift_Del_p.H118fs	NM_001278536.1|NM_001278538.1|NM_001278539.1	NP_001265465.1|NP_001265467.1|NP_001265468.1	Q96PM5	ZN363_HUMAN	ring finger and CHY zinc finger domain containing 1, E3 ubiquitin protein ligase	118					positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein autoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nuclear speck|ubiquitin ligase complex	electron carrier activity|p53 binding|protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding			large_intestine(2)|pancreas(1)	3			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			TTCAAACAATGGAAAAAATCT	0.279													2	4	---	---	---	---						-	76419364	G	-	76419364	7	5	416	1	0	1	0	1	0	0	0	0	13229	1348	47	0	457	0	RCHY1	4	76419364	Frame_Shift_Del	DEL	G	TCGA-S9-A6U0-01A-12D-A32B-08	5798503	76419364	114734912	11	34098											
FRAS1	80144	broad.mit.edu	37	4	79432471	79432471	+	Missense_Mutation	SNP	G	G	T			TCGA-S9-A6U0-01A-12D-A32B-08	TCGA-S9-A6U0-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57e03857-ca5a-4be2-a3a7-cc0f01009cc1	43340bd6-bcc0-4da3-8241-5718570d94dc	g.chr4:79432471G>T	ENST00000264895.6	+	64	10264	c.9824G>T	c.(9823-9825)tGt>tTt	p.C3275F		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	3270					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						CATGTGCGTTGTGTGGCCAAG	0.507													8	79					4.68919e-08	4.92365e-08	1	1	0	T	79432471	G	T	79432471	3	4	416	1	0	0	0	0	1	0	0	0	6076	1377	48	5	10153	5	FRAS1	4	79432471	Missense_Mutation	SNP	G	TCGA-S9-A6U0-01A-12D-A32B-08	3013107	79432471	111721805	12	34099											
ASB5	140458	broad.mit.edu	37	4	177142709	177142709	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6U0-01A-12D-A32B-08	TCGA-S9-A6U0-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57e03857-ca5a-4be2-a3a7-cc0f01009cc1	43340bd6-bcc0-4da3-8241-5718570d94dc	g.chr4:177142709C>T	ENST00000296525.3	-	4	540	c.427G>A	c.(427-429)Gca>Aca	p.A143T	ASB5_ENST00000512254.1_Missense_Mutation_p.A90T|ASB5_ENST00000511879.1_5'UTR	NM_080874.3	NP_543150.1	Q8WWX0	ASB5_HUMAN	ankyrin repeat and SOCS box containing 5	143					intracellular signal transduction					endometrium(2)|kidney(1)|large_intestine(9)|lung(18)|prostate(2)|skin(2)	34		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.13e-20)|Epithelial(43;9.94e-18)|OV - Ovarian serous cystadenocarcinoma(60;2e-09)|GBM - Glioblastoma multiforme(59;0.000254)|STAD - Stomach adenocarcinoma(60;0.000653)|LUSC - Lung squamous cell carcinoma(193;0.0393)		TGGGAGCATGCGTTGAATAAC	0.483													3	62					0	0	1	0	0	T	177142709	C	T	177142709	3	4	416	1	0	0	0	0	1	0	0	0	1025	768	27	1	578	1	ASB5	4	177142709	Missense_Mutation	SNP	C	TCGA-S9-A6U0-01A-12D-A32B-08	97710238	177142709	14011567	13	34100											
SLCO4C1	353189	broad.mit.edu	37	5	101631621	101631621	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6U0-01A-12D-A32B-08	TCGA-S9-A6U0-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57e03857-ca5a-4be2-a3a7-cc0f01009cc1	43340bd6-bcc0-4da3-8241-5718570d94dc	g.chr5:101631621C>T	ENST00000310954.6	-	1	632	c.346G>A	c.(346-348)Gtc>Atc	p.V116I		NM_180991.4	NP_851322.3	Q6ZQN7	SO4C1_HUMAN	solute carrier organic anion transporter family, member 4C1	116					cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		CCTTGCGTGACGGCCAAGAGG	0.642													5	18					0	0	1	0	0	T	101631621	C	T	101631621	3	4	416	1	0	0	0	0	1	0	0	0	14785	536	19	1	1880	1	SLCO4C1	5	101631621	Missense_Mutation	SNP	C	TCGA-S9-A6U0-01A-12D-A32B-08		101631621	79283639	14	34101											
FBN2	2201	broad.mit.edu	37	5	127641280	127641280	+	Missense_Mutation	SNP	T	T	A			TCGA-S9-A6U0-01A-12D-A32B-08	TCGA-S9-A6U0-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57e03857-ca5a-4be2-a3a7-cc0f01009cc1	43340bd6-bcc0-4da3-8241-5718570d94dc	g.chr5:127641280T>A	ENST00000508053.1	-	50	6571	c.5597A>T	c.(5596-5598)gAc>gTc	p.D1866V	FBN2_ENST00000262464.4_Missense_Mutation_p.D1866V			P35556	FBN2_HUMAN	fibrillin 2	1866	EGF-like 30; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		ATTGATGCAGTCTGCATTCCG	0.438													4	67					0	0	1	0	0	A	127641280	T	A	127641280	3	1	416	1	0	0	0	0	1	0	0	0	5736	1667	58	5	3229	5	FBN2	5	127641280	Missense_Mutation	SNP	T	TCGA-S9-A6U0-01A-12D-A32B-08	26009659	127641280	53273980	15	34102											
PCDHA2	56146	broad.mit.edu	37	5	140175891	140175891	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6U0-01A-12D-A32B-08	TCGA-S9-A6U0-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57e03857-ca5a-4be2-a3a7-cc0f01009cc1	43340bd6-bcc0-4da3-8241-5718570d94dc	g.chr5:140175891G>A	ENST00000526136.1	+	1	1342	c.1342G>A	c.(1342-1344)Gtg>Atg	p.V448M	PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000378132.1_Missense_Mutation_p.V448M|PCDHA2_ENST00000520672.2_Missense_Mutation_p.V448M	NM_018905.2	NP_061728.1														NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTGGCCGACGTGAACGACAA	0.647													21	82					0	0	1	0	0	A	140175891	G	A	140175891	3	1	416	1	0	0	0	0	1	0	0	0	11571	1145	40	1	1344	1	PCDHA2	5	140175891	Missense_Mutation	SNP	G	TCGA-S9-A6U0-01A-12D-A32B-08	12534611	140175891	40739369	16	34103											
ADAMTS2	9509	broad.mit.edu	37	5	178559266	178559266	+	Missense_Mutation	SNP	A	A	T			TCGA-S9-A6U0-01A-12D-A32B-08	TCGA-S9-A6U0-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57e03857-ca5a-4be2-a3a7-cc0f01009cc1	43340bd6-bcc0-4da3-8241-5718570d94dc	g.chr5:178559266A>T	ENST00000251582.7	-	15	2356	c.2255T>A	c.(2254-2256)cTc>cAc	p.L752H		NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	752	Spacer.				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		CTCCTGAATGAGCAGGTGTCT	0.527													5	37					0	0	1	0	0	T	178559266	A	T	178559266	3	4	416	1	0	0	0	0	1	0	0	0	264	304	11	5	1412	5	ADAMTS2	5	178559266	Missense_Mutation	SNP	A	TCGA-S9-A6U0-01A-12D-A32B-08	38383375	178559266	2355994	17	34104											
ZFAND3	60685	broad.mit.edu	37	6	38120150	38120150	+	Silent	SNP	G	G	A			TCGA-S9-A6U0-01A-12D-A32B-08	TCGA-S9-A6U0-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57e03857-ca5a-4be2-a3a7-cc0f01009cc1	43340bd6-bcc0-4da3-8241-5718570d94dc	g.chr6:38120150G>A	ENST00000287218.4	+	6	1116	c.669G>A	c.(667-669)ggG>ggA	p.G223G	ZFAND3_ENST00000373391.2_Silent_p.G201G|ZFAND3_ENST00000463847.1_3'UTR	NM_021943.2	NP_068762.1	Q9H8U3	ZFAN3_HUMAN	zinc finger, AN1-type domain 3	223							DNA binding|zinc ion binding			endometrium(2)|large_intestine(4)|lung(2)|ovary(1)	9						AGCGCATCGGGGAGGGGTGCT	0.567													4	100					0	0	1	0	0	A	38120150	G	A	38120150	2	1	416	1	0	0	0	0	0	0	0	1	17687	1219	43	2		2	ZFAND3	6	38120150	Silent	SNP	G	TCGA-S9-A6U0-01A-12D-A32B-08		38120150	132994917	18	34105											
COL28A1	340267	broad.mit.edu	37	7	7495728	7495728	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6U0-01A-12D-A32B-08	TCGA-S9-A6U0-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57e03857-ca5a-4be2-a3a7-cc0f01009cc1	43340bd6-bcc0-4da3-8241-5718570d94dc	g.chr7:7495728C>T	ENST00000399429.3	-	16	1458	c.1318G>A	c.(1318-1320)Gtg>Atg	p.V440M		NM_001037763.2	NP_001032852.2	Q2UY09	COSA1_HUMAN	collagen, type XXVIII, alpha 1	440					cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		TGGGGTCCCACAGGTCCTATA	0.428													5	24					0	0	1	0	0	T	7495728	C	T	7495728	3	4	416	1	0	0	0	0	1	0	0	0	3709	478	17	2	2139	2	COL28A1	7	7495728	Missense_Mutation	SNP	C	TCGA-S9-A6U0-01A-12D-A32B-08		7495728	151642935	19	34106											
DNAH11	8701	broad.mit.edu	37	7	21640404	21640404	+	Silent	SNP	C	C	T			TCGA-S9-A6U0-01A-12D-A32B-08	TCGA-S9-A6U0-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57e03857-ca5a-4be2-a3a7-cc0f01009cc1	43340bd6-bcc0-4da3-8241-5718570d94dc	g.chr7:21640404C>T	ENST00000328843.6	+	16	3142	c.3111C>T	c.(3109-3111)caC>caT	p.H1037H	DNAH11_ENST00000409508.3_Silent_p.H1037H			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1037	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TGGAGACCCACACTTACCTCT	0.453									Kartagener syndrome				27	171					0	0	1	0	0	T	21640404	C	T	21640404	2	4	416	1	0	0	0	0	0	0	0	1	4627	477	17	2		2	DNAH11	7	21640404	Silent	SNP	C	TCGA-S9-A6U0-01A-12D-A32B-08	14144676	21640404	137498259	20	34107											
GPIHBP1	338328	broad.mit.edu	37	8	144297321	144297321	+	Silent	SNP	C	C	T			TCGA-S9-A6U0-01A-12D-A32B-08	TCGA-S9-A6U0-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57e03857-ca5a-4be2-a3a7-cc0f01009cc1	43340bd6-bcc0-4da3-8241-5718570d94dc	g.chr8:144297321C>T	ENST00000330824.2	+	4	558	c.483C>T	c.(481-483)tcC>tcT	p.S161S		NM_178172.3	NP_835466.1	Q8IV16	HDBP1_HUMAN	glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1	161					cholesterol homeostasis|intracellular protein transport|positive regulation of chylomicron remnant clearance|positive regulation of lipoprotein lipase activity|protein import|protein localization at cell surface|protein stabilization|response to heparin|triglyceride homeostasis	anchored to external side of plasma membrane|apical plasma membrane|basolateral plasma membrane|high-density lipoprotein particle|integral to membrane|intracellular	apolipoprotein binding|chylomicron binding|lipase binding|lipid binding|protein transmembrane transporter activity			lung(2)	2	all_cancers(97;6.49e-11)|all_epithelial(106;2.77e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					GGGGCAGCTCCGAAACTGTGG	0.701													10	29					0	0	1	0	0	T	144297321	C	T	144297321	2	4	416	1	0	0	0	0	0	0	0	1	6652	639	23	1		1	GPIHBP1	8	144297321	Silent	SNP	C	TCGA-S9-A6U0-01A-12D-A32B-08		144297321	2066701	21	34108											
SVEP1	79987	broad.mit.edu	37	9	113141771	113141771	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6U0-01A-12D-A32B-08	TCGA-S9-A6U0-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57e03857-ca5a-4be2-a3a7-cc0f01009cc1	43340bd6-bcc0-4da3-8241-5718570d94dc	g.chr9:113141771C>T	ENST00000401783.2	-	44	10600	c.10264G>A	c.(10264-10266)Gta>Ata	p.V3422I	SVEP1_ENST00000374469.1_Missense_Mutation_p.V3399I|SVEP1_ENST00000297826.5_Missense_Mutation_p.V1348I	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	3422	Sushi 34.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						GCATTTTCTACGTGAGCTGGT	0.413													8	23					0	0	1	0	0	T	113141771	C	T	113141771	3	4	416	1	0	0	0	0	1	0	0	0	15476	536	19	1	471	1	SVEP1	9	113141771	Missense_Mutation	SNP	C	TCGA-S9-A6U0-01A-12D-A32B-08		113141771	28071660	22	34109											
CUL2	8453	broad.mit.edu	37	10	35320290	35320290	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6U0-01A-12D-A32B-08	TCGA-S9-A6U0-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57e03857-ca5a-4be2-a3a7-cc0f01009cc1	43340bd6-bcc0-4da3-8241-5718570d94dc	g.chr10:35320290G>A	ENST00000374748.1	-	15	1637	c.1324C>T	c.(1324-1326)Cgt>Tgt	p.R442C	CUL2_ENST00000374749.3_Missense_Mutation_p.R442C|CUL2_ENST00000374751.3_Missense_Mutation_p.R442C|CUL2_ENST00000537177.1_Missense_Mutation_p.R461C|CUL2_ENST00000602371.1_Missense_Mutation_p.R385C|CUL2_ENST00000374742.1_Missense_Mutation_p.R442C|CUL2_ENST00000374746.1_Missense_Mutation_p.R442C			Q13617	CUL2_HUMAN	cullin 2	442					cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex	ubiquitin protein ligase binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|prostate(2)|skin(1)|urinary_tract(2)	31						TGAATTAAACGTTTTGCCAGC	0.303													8	20					0	0	1	0	0	A	35320290	G	A	35320290	3	1	416	1	0	0	0	0	1	0	0	0	4078	1145	40	1	945	1	CUL2	10	35320290	Missense_Mutation	SNP	G	TCGA-S9-A6U0-01A-12D-A32B-08		35320290	100214457	23	34110											
PTEN	5728	broad.mit.edu	37	10	89692877	89692877	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6U0-01A-12D-A32B-08	TCGA-S9-A6U0-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57e03857-ca5a-4be2-a3a7-cc0f01009cc1	43340bd6-bcc0-4da3-8241-5718570d94dc	g.chr10:89692877G>A	ENST00000371953.3	+	5	1718	c.361G>A	c.(361-363)Gca>Aca	p.A121T		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	121	Phosphatase tensin-type.		A -> G (in HNSCC).|A -> P (in glioblastoma; loss of phosphatase activity towards Ins(1,3,4,5)P4).		activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.?(5)|p.R55fs*1(5)|p.A121P(3)|p.Y27fs*1(2)|p.A121_F145del(1)|p.F56fs*2(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TCATGTTGCAGCAATTCACTG	0.393		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			17	56					0	0	1	0	0	A	89692877	G	A	89692877	3	1	416	1	0	0	0	0	1	0	0	0	12787	971	34	2	379	2	PTEN	10	89692877	Missense_Mutation	SNP	G	TCGA-S9-A6U0-01A-12D-A32B-08	54372587	89692877	45841870	24	34111											
SORCS3	22986	broad.mit.edu	37	10	106602566	106602566	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6U0-01A-12D-A32B-08	TCGA-S9-A6U0-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57e03857-ca5a-4be2-a3a7-cc0f01009cc1	43340bd6-bcc0-4da3-8241-5718570d94dc	g.chr10:106602566C>T	ENST00000369701.3	+	2	871	c.644C>T	c.(643-645)aCg>aTg	p.T215M		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	215						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		CTTATCCTGACGAAGCTGTAT	0.463													14	31					0	0	1	0	0	T	106602566	C	T	106602566	3	4	416	1	0	0	0	0	1	0	0	0	14986	536	19	1	650	1	SORCS3	10	106602566	Missense_Mutation	SNP	C	TCGA-S9-A6U0-01A-12D-A32B-08	16909689	106602566	28932181	25	34112											
NR1H3	10062	broad.mit.edu	37	11	47282968	47282968	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6U0-01A-12D-A32B-08	TCGA-S9-A6U0-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57e03857-ca5a-4be2-a3a7-cc0f01009cc1	43340bd6-bcc0-4da3-8241-5718570d94dc	g.chr11:47282968C>T	ENST00000467728.1	+	4	1914	c.676C>T	c.(676-678)Cgg>Tgg	p.R226W	NR1H3_ENST00000441012.2_Missense_Mutation_p.R226W|NR1H3_ENST00000481889.2_Missense_Mutation_p.R181W|NR1H3_ENST00000405853.3_Missense_Mutation_p.R226W|NR1H3_ENST00000395397.3_Missense_Mutation_p.R181W|NR1H3_ENST00000527949.1_Missense_Mutation_p.R135W|NR1H3_ENST00000529540.1_3'UTR|NR1H3_ENST00000405576.1_Missense_Mutation_p.R181W|NR1H3_ENST00000407404.1_Missense_Mutation_p.R226W			Q13133	NR1H3_HUMAN	nuclear receptor subfamily 1, group H, member 3	226	Ligand-binding (Potential).				apoptotic cell clearance|cellular response to lipopolysaccharide|cholesterol homeostasis|negative regulation of cholesterol storage|negative regulation of inflammatory response|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of lipid transport|negative regulation of macrophage activation|negative regulation of pancreatic juice secretion|negative regulation of pinocytosis|negative regulation of secretion of lysosomal enzymes|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of cholesterol homeostasis|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of receptor biosynthetic process|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of triglyceride biosynthetic process|regulation of circadian rhythm|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to progesterone stimulus|triglyceride homeostasis	nuclear chromatin|nucleoplasm	cholesterol binding|steroid hormone receptor activity|sterol response element binding|transcription coactivator activity|zinc ion binding	p.R226W(1)		endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(5)	20						ACAGTGTAACCGGCGCTCCTT	0.627													7	36					0	0	1	0	0	T	47282968	C	T	47282968	3	4	416	1	0	0	0	0	1	0	0	0	10666	643	23	1	690	1	NR1H3	11	47282968	Missense_Mutation	SNP	C	TCGA-S9-A6U0-01A-12D-A32B-08		47282968	87723548	26	34113											
MMP10	4319	broad.mit.edu	37	11	102647101	102647101	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6U0-01A-12D-A32B-08	TCGA-S9-A6U0-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57e03857-ca5a-4be2-a3a7-cc0f01009cc1	43340bd6-bcc0-4da3-8241-5718570d94dc	g.chr11:102647101G>A	ENST00000279441.4	-	6	878	c.842C>T	c.(841-843)tCg>tTg	p.S281L		NM_002425.2	NP_002416.1	P09238	MMP10_HUMAN	matrix metallopeptidase 10 (stromelysin 2)	281					collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|liver(2)|lung(6)	22	all_epithelial(12;0.00961)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0303)|Lung(13;0.0828)|all cancers(10;0.116)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0145)		CTCAGATCCCGAAGGAACAGA	0.478													16	59					0	0	1	0	0	A	102647101	G	A	102647101	3	1	416	1	0	0	0	0	1	0	0	0	9697	1059	37	1	608	1	MMP10	11	102647101	Missense_Mutation	SNP	G	TCGA-S9-A6U0-01A-12D-A32B-08	55364133	102647101	32359415	27	34114											
DGKA	1606	broad.mit.edu	37	12	56335069	56335069	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6U0-01A-12D-A32B-08	TCGA-S9-A6U0-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57e03857-ca5a-4be2-a3a7-cc0f01009cc1	43340bd6-bcc0-4da3-8241-5718570d94dc	g.chr12:56335069G>A	ENST00000331886.5	+	14	1589	c.1135G>A	c.(1135-1137)Gtc>Atc	p.V379I	DGKA_ENST00000549079.2_3'UTR|DGKA_ENST00000551156.1_Missense_Mutation_p.V379I|DGKA_ENST00000394147.1_Missense_Mutation_p.V379I	NM_001345.4	NP_001336.2	P23743	DGKA_HUMAN	diacylglycerol kinase, alpha 80kDa	379	DAGKc.			V -> L (in Ref. 2; AAC34802).	activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity	p.V379I(1)		breast(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(4)|pancreas(1)|skin(3)|urinary_tract(1)	25					Vitamin E(DB00163)	CCCACTTCTCGTCTTTGTCAA	0.493													25	84					0	0	1	0	0	A	56335069	G	A	56335069	3	1	416	1	0	0	0	0	1	0	0	0	4493	1145	40	1	1185	1	DGKA	12	56335069	Missense_Mutation	SNP	G	TCGA-S9-A6U0-01A-12D-A32B-08		56335069	77516826	28	34115											
KLF5	688	broad.mit.edu	37	13	73649880	73649880	+	Silent	SNP	C	C	T			TCGA-S9-A6U0-01A-12D-A32B-08	TCGA-S9-A6U0-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57e03857-ca5a-4be2-a3a7-cc0f01009cc1	43340bd6-bcc0-4da3-8241-5718570d94dc	g.chr13:73649880C>T	ENST00000377687.4	+	4	1766	c.1230C>T	c.(1228-1230)tgC>tgT	p.C410C	KLF5_ENST00000539231.1_Silent_p.C319C	NM_001730.3	NP_001721.2	Q13887	KLF5_HUMAN	Kruppel-like factor 5 (intestinal)	410					transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Prostate(6;0.00187)|Breast(118;0.0735)		GBM - Glioblastoma multiforme(99;0.0011)		GGGAAGGCTGCGACTGGAGGT	0.572													20	99					0	0	1	0	0	T	73649880	C	T	73649880	2	4	416	1	0	0	0	0	0	0	0	1	8392	776	27	1		1	KLF5	13	73649880	Silent	SNP	C	TCGA-S9-A6U0-01A-12D-A32B-08		73649880	41519998	29	34116											
LRP10	26020	broad.mit.edu	37	14	23346491	23346491	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A6U0-01A-12D-A32B-08	TCGA-S9-A6U0-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57e03857-ca5a-4be2-a3a7-cc0f01009cc1	43340bd6-bcc0-4da3-8241-5718570d94dc	g.chr14:23346491A>G	ENST00000359591.4	+	7	2588	c.1897A>G	c.(1897-1899)Act>Gct	p.T633A	LRP10_ENST00000546834.1_Intron|LRP10_ENST00000470660.1_Intron	NM_014045.3	NP_054764.2	Q7Z4F1	LRP10_HUMAN	low density lipoprotein receptor-related protein 10	633	Pro-rich.				endocytosis	coated pit|integral to membrane				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(2)	32	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.00549)		AGCCCCCACTACTGTCCCTGA	0.672													31	108					0	0	1	0	0	G	23346491	A	G	23346491	3	3	416	1	0	0	0	0	1	0	0	0	8997	391	14	3	1923	3	LRP10	14	23346491	Missense_Mutation	SNP	A	TCGA-S9-A6U0-01A-12D-A32B-08		23346491	84003049	30	34117											
SPG11	80208	broad.mit.edu	37	15	44949465	44949465	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6U0-01A-12D-A32B-08	TCGA-S9-A6U0-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57e03857-ca5a-4be2-a3a7-cc0f01009cc1	43340bd6-bcc0-4da3-8241-5718570d94dc	g.chr15:44949465C>T	ENST00000261866.7	-	4	713	c.697G>A	c.(697-699)Gta>Ata	p.V233I	SPG11_ENST00000535302.2_Missense_Mutation_p.V233I|SPG11_ENST00000559193.1_Missense_Mutation_p.V233I|SPG11_ENST00000558319.1_Missense_Mutation_p.V233I|SPG11_ENST00000427534.2_Missense_Mutation_p.V233I	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	233					cell death	cytosol|integral to membrane|nucleus	protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		ACATGAGCTACATATGTACCA	0.363													8	32					0	0	1	0	0	T	44949465	C	T	44949465	3	4	416	1	0	0	0	0	1	0	0	0	15097	478	17	2	6782	2	SPG11	15	44949465	Missense_Mutation	SNP	C	TCGA-S9-A6U0-01A-12D-A32B-08		44949465	57581927	31	34118											
TEX9	374618	broad.mit.edu	37	15	56686955	56686955	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6U0-01A-12D-A32B-08	TCGA-S9-A6U0-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57e03857-ca5a-4be2-a3a7-cc0f01009cc1	43340bd6-bcc0-4da3-8241-5718570d94dc	g.chr15:56686955G>A	ENST00000558083.2	+	8	856	c.526G>A	c.(526-528)Gaa>Aaa	p.E176K	TEX9_ENST00000561221.2_Missense_Mutation_p.E251K|TEX9_ENST00000352903.2_Missense_Mutation_p.E251K|TEX9_ENST00000560582.1_Missense_Mutation_p.E7K|TEX9_ENST00000537232.1_Missense_Mutation_p.E176K|RP11-48G14.2_ENST00000564401.1_lincRNA			Q8N6V9	TEX9_HUMAN	testis expressed 9	251								p.E251Q(1)		cervix(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)	14				all cancers(107;0.0394)|GBM - Glioblastoma multiforme(80;0.056)		GTCTCAAGTAGAAAAATACAA	0.303													15	27					0	0	1	0	0	A	56686955	G	A	56686955	3	1	416	1	0	0	0	0	1	0	0	0	15844	943	33	2	785	2	TEX9	15	56686955	Missense_Mutation	SNP	G	TCGA-S9-A6U0-01A-12D-A32B-08	11737490	56686955	45844437	32	34119											
WDR93	56964	broad.mit.edu	37	15	90246288	90246288	+	Silent	SNP	G	G	A			TCGA-S9-A6U0-01A-12D-A32B-08	TCGA-S9-A6U0-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57e03857-ca5a-4be2-a3a7-cc0f01009cc1	43340bd6-bcc0-4da3-8241-5718570d94dc	g.chr15:90246288G>A	ENST00000268130.7	+	3	512	c.411G>A	c.(409-411)gcG>gcA	p.A137A	WDR93_ENST00000560294.1_Silent_p.A137A|WDR93_ENST00000558000.1_Silent_p.A137A	NM_020212.1	NP_064597.1	Q6P2C0	WDR93_HUMAN	WD repeat domain 93	137					electron transport chain	mitochondrial inner membrane	oxidoreductase activity, acting on NADH or NADPH			NS(1)|breast(3)|endometrium(2)|kidney(4)|large_intestine(5)|liver(2)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	33	Lung NSC(78;0.0237)|all_lung(78;0.0478)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|BRCA - Breast invasive adenocarcinoma(143;0.128)			AAATATATGCGTGGGAGAAGC	0.393													29	87					0	0	1	0	0	A	90246288	G	A	90246288	2	1	416	1	0	0	0	0	0	0	0	1	17400	1132	40	1		1	WDR93	15	90246288	Silent	SNP	G	TCGA-S9-A6U0-01A-12D-A32B-08	33559333	90246288	12285104	33	34120											
ITGAX	3687	broad.mit.edu	37	16	31374348	31374348	+	Silent	SNP	C	C	T			TCGA-S9-A6U0-01A-12D-A32B-08	TCGA-S9-A6U0-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57e03857-ca5a-4be2-a3a7-cc0f01009cc1	43340bd6-bcc0-4da3-8241-5718570d94dc	g.chr16:31374348C>T	ENST00000268296.4	+	13	1573	c.1452C>T	c.(1450-1452)taC>taT	p.Y484Y	ITGAX_ENST00000562522.1_Silent_p.Y484Y	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	484					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						CCCATTACTACGAGCAGACCC	0.677													31	76					0	0	1	0	0	T	31374348	C	T	31374348	2	4	416	1	0	0	0	0	0	0	0	1	7933	547	19	1		1	ITGAX	16	31374348	Silent	SNP	C	TCGA-S9-A6U0-01A-12D-A32B-08		31374348	58980405	34	34121											
COTL1	23406	broad.mit.edu	37	16	84651477	84651477	+	Frame_Shift_Del	DEL	T	T	-			TCGA-S9-A6U0-01A-12D-A32B-08	TCGA-S9-A6U0-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57e03857-ca5a-4be2-a3a7-cc0f01009cc1	43340bd6-bcc0-4da3-8241-5718570d94dc	g.chr16:84651477delT	ENST00000262428.4	-	1	206	c.44delA	c.(43-45)aacfs	p.N15fs	COTL1_ENST00000564057.1_5'UTR	NM_021149.2	NP_066972.1	Q14019	COTL1_HUMAN	coactosin-like 1 (Dictyostelium)	15	ADF-H.					cytoplasm|cytoskeleton	actin binding|enzyme binding			endometrium(1)|large_intestine(1)|liver(1)|lung(2)|skin(1)	6						GCGCACCAGGTTGTACGCCGC	0.726													2	4	---	---	---	---						-	84651477	T	-	84651477	7	5	416	1	0	1	0	1	0	0	0	0	3784	1725	60	0	400	0	COTL1	16	84651477	Frame_Shift_Del	DEL	T	TCGA-S9-A6U0-01A-12D-A32B-08	53277129	84651477	5703276	35	34122											
MYH13	8735	broad.mit.edu	37	17	10209888	10209888	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6U0-01A-12D-A32B-08	TCGA-S9-A6U0-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57e03857-ca5a-4be2-a3a7-cc0f01009cc1	43340bd6-bcc0-4da3-8241-5718570d94dc	g.chr17:10209888C>T	ENST00000418404.3	-	36	5517	c.5354G>A	c.(5353-5355)cGg>cAg	p.R1785Q	RP11-401O9.4_ENST00000609088.1_RNA|MYH13_ENST00000252172.4_Missense_Mutation_p.R1785Q			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1785					muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						CTTCTTCATCCGCTCCAGGTG	0.572													34	108					0	0	1	0	0	T	10209888	C	T	10209888	3	4	416	1	0	0	0	0	1	0	0	0	10080	652	23	1	482	1	MYH13	17	10209888	Missense_Mutation	SNP	C	TCGA-S9-A6U0-01A-12D-A32B-08		10209888	70985322	36	34123											
MYH13	8735	broad.mit.edu	37	17	10216566	10216566	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6U0-01A-12D-A32B-08	TCGA-S9-A6U0-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57e03857-ca5a-4be2-a3a7-cc0f01009cc1	43340bd6-bcc0-4da3-8241-5718570d94dc	g.chr17:10216566C>T	ENST00000418404.3	-	29	4253	c.4090G>A	c.(4090-4092)Gcg>Acg	p.A1364T	RP11-401O9.4_ENST00000609088.1_RNA|MYH13_ENST00000252172.4_Missense_Mutation_p.A1364T			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1364					muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						TTGGACAGCGCCCTCTGCAGC	0.637													40	131					0	0	1	0	0	T	10216566	C	T	10216566	3	4	416	1	0	0	0	0	1	0	0	0	10080	739	26	2	1774	2	MYH13	17	10216566	Missense_Mutation	SNP	C	TCGA-S9-A6U0-01A-12D-A32B-08	6678	10216566	70978644	37	34124											
COX10	1352	broad.mit.edu	37	17	14095349	14095349	+	Missense_Mutation	SNP	G	G	C			TCGA-S9-A6U0-01A-12D-A32B-08	TCGA-S9-A6U0-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57e03857-ca5a-4be2-a3a7-cc0f01009cc1	43340bd6-bcc0-4da3-8241-5718570d94dc	g.chr17:14095349G>C	ENST00000261643.3	+	6	816	c.739G>C	c.(739-741)Gga>Cga	p.G247R	COX10_ENST00000537334.1_Missense_Mutation_p.G30R|COX10_ENST00000536205.1_Missense_Mutation_p.G55R	NM_001303.3	NP_001294.2	Q12887	COX10_HUMAN	cytochrome c oxidase assembly homolog 10 (yeast)	247					heme a biosynthetic process|heme O biosynthetic process|respiratory chain complex IV assembly	integral to membrane|mitochondrial membrane	protoheme IX farnesyltransferase activity			cervix(1)|endometrium(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14		all_lung(20;0.06)|Lung SC(565;0.168)		UCEC - Uterine corpus endometrioid carcinoma (92;0.106)		TGCTGTTCCGGGAGTTGCCAT	0.498													18	65					0	0	1	0	0	C	14095349	G	C	14095349	3	2	416	1	0	0	0	0	1	0	0	0	3785	1233	43	5	761	5	COX10	17	14095349	Missense_Mutation	SNP	G	TCGA-S9-A6U0-01A-12D-A32B-08	3878783	14095349	67099861	38	34125											
NLE1	54475	broad.mit.edu	37	17	33464147	33464147	+	Translation_Start_Site	SNP	G	G	T			TCGA-S9-A6U0-01A-12D-A32B-08	TCGA-S9-A6U0-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57e03857-ca5a-4be2-a3a7-cc0f01009cc1	43340bd6-bcc0-4da3-8241-5718570d94dc	g.chr17:33464147G>T	ENST00000586869.1	-	0	844				NLE1_ENST00000593176.1_5'UTR|NLE1_ENST00000360831.5_Missense_Mutation_p.T192N|NLE1_ENST00000442241.4_Missense_Mutation_p.T234N			Q9NVX2	NLE1_HUMAN	notchless homolog 1 (Drosophila)							nucleolus				NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	22		Ovarian(249;0.17)				GCGGCCTGCAGTTGTGTCCCA	0.637													8	36					0.00307968	0.00312935	1	1	0	T	33464147	G	T	33464147	1	4	416	1	0	0	0	0	0	0	0	0	10507	1029	36	4		4	NLE1	17	33464147	Translation_Start_Site	SNP	G	TCGA-S9-A6U0-01A-12D-A32B-08	19368798	33464147	47731063	39	34126	146	2									
NLE1	54475	broad.mit.edu	37	17	33464148	33464148	+	Missense_Mutation	SNP	T	T	A			TCGA-S9-A6U0-01A-12D-A32B-08	TCGA-S9-A6U0-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57e03857-ca5a-4be2-a3a7-cc0f01009cc1	43340bd6-bcc0-4da3-8241-5718570d94dc	g.chr17:33464148T>A	ENST00000442241.4	-	7	739	c.700A>T	c.(700-702)Act>Tct	p.T234S	NLE1_ENST00000593176.1_5'UTR|NLE1_ENST00000360831.5_Missense_Mutation_p.T192S|NLE1_ENST00000586869.1_5'UTR	NM_001014445.1|NM_018096.3	NP_001014445.1|NP_060566.2	Q9NVX2	NLE1_HUMAN	notchless homolog 1 (Drosophila)	234						nucleolus				NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	22		Ovarian(249;0.17)				CGGCCTGCAGTTGTGTCCCAG	0.632													8	35					0	0	1	0	0	A	33464148	T	A	33464148	3	1	416	1	0	0	0	0	1	0	0	0	10507	1725	60	5	785	5	NLE1	17	33464148	Missense_Mutation	SNP	T	TCGA-S9-A6U0-01A-12D-A32B-08	1	33464148	47731062	40	34127	146	2									
TXNDC2	84203	broad.mit.edu	37	18	9887569	9887569	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6U0-01A-12D-A32B-08	TCGA-S9-A6U0-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57e03857-ca5a-4be2-a3a7-cc0f01009cc1	43340bd6-bcc0-4da3-8241-5718570d94dc	g.chr18:9887569G>A	ENST00000357775.5	+	2	1127	c.892G>A	c.(892-894)Gaa>Aaa	p.E298K	TXNDC2_ENST00000536353.2_3'UTR|TXNDC2_ENST00000306084.6_Missense_Mutation_p.E365K	NM_032243.5	NP_115619.4	Q86VQ3	TXND2_HUMAN	thioredoxin domain containing 2 (spermatozoa)		22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I.				cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis	cytoplasm	electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						GTCCCCAGAAGAAGCCATCCA	0.567													33	89					0	0	1	0	0	A	9887569	G	A	9887569	3	1	416	1	0	0	0	0	1	0	0	0	16859	943	33	2	1099	2	TXNDC2	18	9887569	Missense_Mutation	SNP	G	TCGA-S9-A6U0-01A-12D-A32B-08		9887569	68189679	41	34128											
OR7G1	125962	broad.mit.edu	37	19	9226075	9226075	+	Missense_Mutation	SNP	C	C	T	rs140073167	byFrequency	TCGA-S9-A6U0-01A-12D-A32B-08	TCGA-S9-A6U0-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57e03857-ca5a-4be2-a3a7-cc0f01009cc1	43340bd6-bcc0-4da3-8241-5718570d94dc	g.chr19:9226075C>T	ENST00000293614.1	-	1	364	c.365G>A	c.(364-366)cGc>cAc	p.R122H	OR7G1_ENST00000541538.1_Missense_Mutation_p.R122H			Q8NGA0	OR7G1_HUMAN	olfactory receptor, family 7, subfamily G, member 1	122					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R122H(1)		breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|skin(2)	20						GGCCACATAGCGGTCGTAGGC	0.483													14	70					0	0	1	0	0	T	9226075	C	T	9226075	3	4	416	1	0	0	0	0	1	0	0	0	11269	768	27	1	644	1	OR7G1	19	9226075	Missense_Mutation	SNP	C	TCGA-S9-A6U0-01A-12D-A32B-08		9226075	49902908	42	34129											
CYP4F2	8529	broad.mit.edu	37	19	16006353	16006353	+	Silent	SNP	G	G	A			TCGA-S9-A6U0-01A-12D-A32B-08	TCGA-S9-A6U0-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57e03857-ca5a-4be2-a3a7-cc0f01009cc1	43340bd6-bcc0-4da3-8241-5718570d94dc	g.chr19:16006353G>A	ENST00000221700.6	-	3	401	c.306C>T	c.(304-306)tgC>tgT	p.C102C	CYP4F2_ENST00000011989.7_Intron	NM_001082.3	NP_001073.3	P78329	CP4F2_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 2						leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding	p.C102C(1)		NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						TGTCGGGGTGGCACAAACTGA	0.597													4	158					0	0	1	0	0	A	16006353	G	A	16006353	2	1	416	1	0	0	0	0	0	0	0	1	4211	1195	42	2		2	CYP4F2	19	16006353	Silent	SNP	G	TCGA-S9-A6U0-01A-12D-A32B-08	6780278	16006353	43122630	43	34130											
PRX	57716	broad.mit.edu	37	19	40903766	40903766	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6U0-01A-12D-A32B-08	TCGA-S9-A6U0-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57e03857-ca5a-4be2-a3a7-cc0f01009cc1	43340bd6-bcc0-4da3-8241-5718570d94dc	g.chr19:40903766G>A	ENST00000324001.7	-	7	763	c.493C>T	c.(493-495)Cgc>Tgc	p.R165C	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	165	Arg/Lys-rich (basic).				axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CGACGCAGGCGGGAGAACTTG	0.662													4	12					0	0	1	0	0	A	40903766	G	A	40903766	3	1	416	1	0	0	0	0	1	0	0	0	12691	1116	39	1	3896	1	PRX	19	40903766	Missense_Mutation	SNP	G	TCGA-S9-A6U0-01A-12D-A32B-08	24897413	40903766	18225217	44	34131											
PSG7	5676	broad.mit.edu	37	19	43439576	43439576	+	RNA	SNP	C	C	T			TCGA-S9-A6U0-01A-12D-A32B-08	TCGA-S9-A6U0-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57e03857-ca5a-4be2-a3a7-cc0f01009cc1	43340bd6-bcc0-4da3-8241-5718570d94dc	g.chr19:43439576C>T	ENST00000446844.3	-	0	499				PSG7_ENST00000406070.2_RNA			Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy	extracellular region							Prostate(69;0.00682)				GAAGGTGAAACGTCCAGTTAC	0.507													59	232					0	0	1	0	0	T	43439576	C	T	43439576	1	4	416	0	1	0	0	0	0	0	0	0	12709	536	19	1		1	PSG7	19	43439576	RNA	SNP	C	TCGA-S9-A6U0-01A-12D-A32B-08	2535810	43439576	15689407	45	34132											
PCSK2	5126	broad.mit.edu	37	20	17462502	17462502	+	Nonsense_Mutation	SNP	G	G	A			TCGA-S9-A6U0-01A-12D-A32B-08	TCGA-S9-A6U0-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57e03857-ca5a-4be2-a3a7-cc0f01009cc1	43340bd6-bcc0-4da3-8241-5718570d94dc	g.chr20:17462502G>A	ENST00000262545.2	+	12	2019	c.1704G>A	c.(1702-1704)tgG>tgA	p.W568*	PCSK2_ENST00000459871.1_3'UTR|PCSK2_ENST00000377899.1_Nonsense_Mutation_p.W549*|PCSK2_ENST00000536609.1_Nonsense_Mutation_p.W533*	NM_002594.3	NP_002585.2	P16519	NEC2_HUMAN	proprotein convertase subtilisin/kexin type 2	568					enkephalin processing|insulin processing|islet amyloid polypeptide processing	extracellular space|membrane|soluble fraction|transport vesicle	serine-type endopeptidase activity			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GAGGCACCTGGACCCTGGAGC	0.632													12	30					0	0	1	0	0	A	17462502	G	A	17462502	4	1	416	1	0	0	0	0	0	1	0	0	11648	1183	41	2	1750	2	PCSK2	20	17462502	Nonsense_Mutation	SNP	G	TCGA-S9-A6U0-01A-12D-A32B-08		17462502	45563018	46	34133											
PWP2	5822	broad.mit.edu	37	21	45547815	45547815	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6U0-01A-12D-A32B-08	TCGA-S9-A6U0-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57e03857-ca5a-4be2-a3a7-cc0f01009cc1	43340bd6-bcc0-4da3-8241-5718570d94dc	g.chr21:45547815C>T	ENST00000291576.7	+	18	2270	c.2143C>T	c.(2143-2145)Cgc>Tgc	p.R715C	PWP2_ENST00000494310.1_3'UTR	NM_005049.2	NP_005040.2	Q15269	PWP2_HUMAN	PWP2 periodic tryptophan protein homolog (yeast)	715						cytoplasm|nucleolus	signal transducer activity			cervix(1)|endometrium(6)|large_intestine(6)|lung(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	21				STAD - Stomach adenocarcinoma(101;0.172)|Colorectal(79;0.2)		TTTCCCAGGGCGCTGCTGGGC	0.478													12	37					0	0	1	0	0	T	45547815	C	T	45547815	3	4	416	1	0	0	0	0	1	0	0	0	12896	768	27	1	2213	1	PWP2	21	45547815	Missense_Mutation	SNP	C	TCGA-S9-A6U0-01A-12D-A32B-08		45547815	2582080	47	34134											
ZCCHC12	170261	broad.mit.edu	37	X	117960276	117960276	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A6U0-01A-12D-A32B-08	TCGA-S9-A6U0-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57e03857-ca5a-4be2-a3a7-cc0f01009cc1	43340bd6-bcc0-4da3-8241-5718570d94dc	g.chrX:117960276A>G	ENST00000310164.2	+	4	1576	c.1069A>G	c.(1069-1071)Aaa>Gaa	p.K357E		NM_173798.2	NP_776159.1	Q6PEW1	ZCH12_HUMAN	zinc finger, CCHC domain containing 12	357					regulation of transcription, DNA-dependent|transcription, DNA-dependent		nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	22						AGGCCACTCAAAAGAAACCTG	0.488													3	37					0	0	1	0	0	G	117960276	A	G	117960276	3	3	416	1	0	0	0	0	1	0	0	0	17640	15	1	3	1071	3	ZCCHC12	23	117960276	Missense_Mutation	SNP	A	TCGA-S9-A6U0-01A-12D-A32B-08		117960276	37310284	48	34135											
DCAF12L2	340578	broad.mit.edu	37	X	125299212	125299212	+	Silent	SNP	G	G	T			TCGA-S9-A6U0-01A-12D-A32B-08	TCGA-S9-A6U0-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57e03857-ca5a-4be2-a3a7-cc0f01009cc1	43340bd6-bcc0-4da3-8241-5718570d94dc	g.chrX:125299212G>T	ENST00000538699.1	-	2	776	c.696C>A	c.(694-696)gcC>gcA	p.A232A	DCAF12L2_ENST00000360028.2_Silent_p.A232A	NM_001013628.2	NP_001013650.1	Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	232										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						CGCTGTGCCAGGCAATGCTGC	0.637													14	20					3.27435e-08	3.49634e-08	1	1	0	T	125299212	G	T	125299212	2	4	416	1	0	0	0	0	0	0	0	1	4289	987	35	4		4	DCAF12L2	23	125299212	Silent	SNP	G	TCGA-S9-A6U0-01A-12D-A32B-08	7338936	125299212	29971348	49	34136											
USP48	84196	broad.mit.edu	37	1	22030798	22030798	+	Silent	SNP	C	C	T			TCGA-S9-A6U1-01A-21D-A33T-08	TCGA-S9-A6U1-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b195ecbd-19d9-44f9-87b6-f3cee5b93490	119a0ced-acee-46e4-8534-c42b39d35197	g.chr1:22030798C>T	ENST00000308271.9	-	20	3120	c.2472G>A	c.(2470-2472)gtG>gtA	p.V824V	USP48_ENST00000529637.1_Silent_p.V836V|USP48_ENST00000374732.3_Silent_p.V362V|USP48_ENST00000400301.1_Silent_p.V824V	NM_032236.5	NP_115612.4	Q86UV5	UBP48_HUMAN	ubiquitin specific peptidase 48	824	DUSP 3.				ubiquitin-dependent protein catabolic process	mitochondrion|nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(14)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;4.66e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|OV - Ovarian serous cystadenocarcinoma(117;4.74e-26)|COAD - Colon adenocarcinoma(152;1.3e-05)|GBM - Glioblastoma multiforme(114;1.86e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000614)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00711)|Lung(427;0.0327)|READ - Rectum adenocarcinoma(331;0.0657)|LUSC - Lung squamous cell carcinoma(448;0.0753)		TTACATCTCCCACTTCAATTC	0.358													69	112					0	0	1	0	0	T	22030798	C	T	22030798	2	4	417	1	0	0	0	0	0	0	0	1	17139	581	21	2		2	USP48	1	22030798	Silent	SNP	C	TCGA-S9-A6U1-01A-21D-A33T-08		22030798	227219823	1	34137											
ECM1	1893	broad.mit.edu	37	1	150483973	150483973	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6U1-01A-21D-A33T-08	TCGA-S9-A6U1-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b195ecbd-19d9-44f9-87b6-f3cee5b93490	119a0ced-acee-46e4-8534-c42b39d35197	g.chr1:150483973C>T	ENST00000369047.4	+	7	874	c.749C>T	c.(748-750)tCg>tTg	p.S250L	ECM1_ENST00000470432.1_3'UTR|ECM1_ENST00000369049.4_Missense_Mutation_p.S277L|ECM1_ENST00000346569.6_Intron	NM_004425.3	NP_004416.2	Q16610	ECM1_HUMAN	extracellular matrix protein 1	250	2 X approximate repeats.				angiogenesis|biomineral tissue development|negative regulation of bone mineralization|negative regulation of peptidase activity|ossification|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of I-kappaB kinase/NF-kappaB cascade	proteinaceous extracellular matrix	laminin binding|protease binding|protein C-terminus binding|signal transducer activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|urinary_tract(1)	22	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.29e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			GCCGAGTTCTCGGTCAAGACC	0.632													5	190					0	0	1	0	0	T	150483973	C	T	150483973	3	4	417	1	0	0	0	0	1	0	0	0	4923	893	31	1	775	1	ECM1	1	150483973	Missense_Mutation	SNP	C	TCGA-S9-A6U1-01A-21D-A33T-08	128453175	150483973	98766648	2	34138											
PLEKHA6	22874	broad.mit.edu	37	1	204214034	204214034	+	Silent	SNP	C	C	A			TCGA-S9-A6U1-01A-21D-A33T-08	TCGA-S9-A6U1-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b195ecbd-19d9-44f9-87b6-f3cee5b93490	119a0ced-acee-46e4-8534-c42b39d35197	g.chr1:204214034C>A	ENST00000272203.3	-	15	2446	c.2130G>T	c.(2128-2130)gtG>gtT	p.V710V	PLEKHA6_ENST00000414478.1_Silent_p.V730V	NM_014935.4	NP_055750.2	Q9Y2H5	PKHA6_HUMAN	pleckstrin homology domain containing, family A member 6	710										breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_cancers(21;0.0222)|Breast(84;0.179)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)			GAGAGCCCGACACCAGTGAAA	0.627													3	7					0.00024832	0.000259356	1	1	0	A	204214034	C	A	204214034	2	1	417	1	0	0	0	0	0	0	0	1	12108	465	17	5		5	PLEKHA6	1	204214034	Silent	SNP	C	TCGA-S9-A6U1-01A-21D-A33T-08	53730061	204214034	45036587	3	34139											
C1orf95	375057	broad.mit.edu	37	1	226784542	226784542	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6U1-01A-21D-A33T-08	TCGA-S9-A6U1-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b195ecbd-19d9-44f9-87b6-f3cee5b93490	119a0ced-acee-46e4-8534-c42b39d35197	g.chr1:226784542G>A	ENST00000366789.4	+	2	347	c.242G>A	c.(241-243)cGc>cAc	p.R81H	C1orf95_ENST00000366788.3_Missense_Mutation_p.R81H			Q69YW2	CA095_HUMAN	chromosome 1 open reading frame 95	81						integral to membrane				large_intestine(1)|lung(4)|ovary(3)	8	Breast(184;0.133)	Prostate(94;0.0885)		GBM - Glioblastoma multiforme(131;0.113)		TGCGGGGCCCGCACCGACCTC	0.617													5	266					0	0	1	0	0	A	226784542	G	A	226784542	3	1	417	1	0	0	0	0	1	0	0	0	2086	1087	38	1	248	1	C1orf95	1	226784542	Missense_Mutation	SNP	G	TCGA-S9-A6U1-01A-21D-A33T-08	22570508	226784542	22466079	4	34140											
URB2	9816	broad.mit.edu	37	1	229773923	229773923	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6U1-01A-21D-A33T-08	TCGA-S9-A6U1-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b195ecbd-19d9-44f9-87b6-f3cee5b93490	119a0ced-acee-46e4-8534-c42b39d35197	g.chr1:229773923C>T	ENST00000258243.2	+	4	3699	c.3563C>T	c.(3562-3564)gCc>gTc	p.A1188V		NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	1188						nucleolus				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						TTCTTTTTGGCCCCAGAACTG	0.453													5	306					0	0	1	0	0	T	229773923	C	T	229773923	3	4	417	1	0	0	0	0	1	0	0	0	17085	739	26	2	3573	2	URB2	1	229773923	Missense_Mutation	SNP	C	TCGA-S9-A6U1-01A-21D-A33T-08	2989381	229773923	19476698	5	34141											
IDH1	3417	broad.mit.edu	37	2	209113113	209113113	+	Missense_Mutation	SNP	G	G	A	rs121913499		TCGA-S9-A6U1-01A-21D-A33T-08	TCGA-S9-A6U1-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b195ecbd-19d9-44f9-87b6-f3cee5b93490	119a0ced-acee-46e4-8534-c42b39d35197	g.chr2:209113113G>A	ENST00000415913.1	-	4	775	c.394C>T	c.(394-396)Cgt>Tgt	p.R132C	IDH1_ENST00000446179.1_Missense_Mutation_p.R132C|IDH1_ENST00000345146.2_Missense_Mutation_p.R132C	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		TAAGCATGACGACCTATGATG	0.398			Mis		gliobastoma								64	124					0	0	1	0	0	A	209113113	G	A	209113113	3	1	417	1	0	0	0	0	1	0	0	0	7538	1058	37	1	878	1	IDH1	2	209113113	Missense_Mutation	SNP	G	TCGA-S9-A6U1-01A-21D-A33T-08		209113113	34086260	6	34142											
SCN5A	6331	broad.mit.edu	37	3	38622756	38622756	+	Missense_Mutation	SNP	C	C	A			TCGA-S9-A6U1-01A-21D-A33T-08	TCGA-S9-A6U1-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b195ecbd-19d9-44f9-87b6-f3cee5b93490	119a0ced-acee-46e4-8534-c42b39d35197	g.chr3:38622756C>A	ENST00000413689.1	-	17	3087	c.2894G>T	c.(2893-2895)cGc>cTc	p.R965L	SCN5A_ENST00000455624.2_Missense_Mutation_p.R965L|SCN5A_ENST00000423572.2_Missense_Mutation_p.R965L|SCN5A_ENST00000451551.2_Missense_Mutation_p.R965L|SCN5A_ENST00000449557.2_Missense_Mutation_p.R965L|SCN5A_ENST00000333535.4_Missense_Mutation_p.R965L|SCN5A_ENST00000414099.2_Missense_Mutation_p.R965L|SCN5A_ENST00000443581.1_Missense_Mutation_p.R965L|SCN5A_ENST00000450102.2_Missense_Mutation_p.R965L|SCN5A_ENST00000425664.1_Missense_Mutation_p.R965L	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	965			R -> C (in BRS1; steady state inactivation shifted to a more negative potential; slower recovery from inactivation).		blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity	p.R965H(2)		NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	CCTCTGGATGCGGGCCAGGGC	0.627													4	47					1	1	1	1	0	A	38622756	C	A	38622756	3	1	417	1	0	0	0	0	1	0	0	0	13976	768	27	5	3204	5	SCN5A	3	38622756	Missense_Mutation	SNP	C	TCGA-S9-A6U1-01A-21D-A33T-08		38622756	159399674	7	34143											
ROBO2	6092	broad.mit.edu	37	3	77526572	77526572	+	Silent	SNP	A	A	G			TCGA-S9-A6U1-01A-21D-A33T-08	TCGA-S9-A6U1-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b195ecbd-19d9-44f9-87b6-f3cee5b93490	119a0ced-acee-46e4-8534-c42b39d35197	g.chr3:77526572A>G	ENST00000461745.1	+	3	1296	c.396A>G	c.(394-396)cgA>cgG	p.R132R	ROBO2_ENST00000332191.8_Silent_p.R132R|ROBO2_ENST00000487694.3_Silent_p.R148R	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	132					apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		CAGTGTTACGAGATGACTTCC	0.463													20	275					0	0	1	0	0	G	77526572	A	G	77526572	2	3	417	1	0	0	0	0	0	0	0	1	13566	291	11	3		3	ROBO2	3	77526572	Silent	SNP	A	TCGA-S9-A6U1-01A-21D-A33T-08	38903816	77526572	120495858	8	34144											
PRDM9	56979	broad.mit.edu	37	5	23522839	23522839	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6U1-01A-21D-A33T-08	TCGA-S9-A6U1-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b195ecbd-19d9-44f9-87b6-f3cee5b93490	119a0ced-acee-46e4-8534-c42b39d35197	g.chr5:23522839C>T	ENST00000296682.3	+	8	909	c.727C>T	c.(727-729)Ccc>Tcc	p.P243S		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	243					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						CCTCAGTCTGCCCCCAGGGCT	0.577										HNSCC(3;0.000094)			29	58					0	0	1	0	0	T	23522839	C	T	23522839	3	4	417	1	0	0	0	0	1	0	0	0	12515	739	26	2	753	2	PRDM9	5	23522839	Missense_Mutation	SNP	C	TCGA-S9-A6U1-01A-21D-A33T-08		23522839	157392421	9	34145											
ADAMTS12	81792	broad.mit.edu	37	5	33576786	33576786	+	Silent	SNP	C	C	T			TCGA-S9-A6U1-01A-21D-A33T-08	TCGA-S9-A6U1-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b195ecbd-19d9-44f9-87b6-f3cee5b93490	119a0ced-acee-46e4-8534-c42b39d35197	g.chr5:33576786C>T	ENST00000504830.1	-	19	3680	c.3345G>A	c.(3343-3345)tcG>tcA	p.S1115S	ADAMTS12_ENST00000352040.3_Silent_p.S1030S	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1115	Spacer 2.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						GGCCTCCCTCCGAGGTAGGAC	0.493										HNSCC(64;0.19)			4	176					0	0	1	0	0	T	33576786	C	T	33576786	2	4	417	1	0	0	0	0	0	0	0	1	256	639	23	1		1	ADAMTS12	5	33576786	Silent	SNP	C	TCGA-S9-A6U1-01A-21D-A33T-08	10053947	33576786	147338474	10	34146											
GPR141	353345	broad.mit.edu	37	7	37780775	37780775	+	Silent	SNP	C	C	T			TCGA-S9-A6U1-01A-21D-A33T-08	TCGA-S9-A6U1-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b195ecbd-19d9-44f9-87b6-f3cee5b93490	119a0ced-acee-46e4-8534-c42b39d35197	g.chr7:37780775C>T	ENST00000447769.1	+	4	1069	c.780C>T	c.(778-780)agC>agT	p.S260S	GPR141_ENST00000334425.1_Silent_p.S260S|EPDR1_ENST00000476620.1_Intron|GPR141_ENST00000461610.1_Intron			Q7Z602	GP141_HUMAN	G protein-coupled receptor 141	260						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(13)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CCTGTAACAGCAAGGTTGCAT	0.383													5	262					0	0	1	0	0	T	37780775	C	T	37780775	2	4	417	1	0	0	0	0	0	0	0	1	6689	709	25	2		2	GPR141	7	37780775	Silent	SNP	C	TCGA-S9-A6U1-01A-21D-A33T-08		37780775	121357888	11	34147											
COL1A2	1278	broad.mit.edu	37	7	94054923	94054923	+	Splice_Site	SNP	G	G	A			TCGA-S9-A6U1-01A-21D-A33T-08	TCGA-S9-A6U1-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b195ecbd-19d9-44f9-87b6-f3cee5b93490	119a0ced-acee-46e4-8534-c42b39d35197	g.chr7:94054923G>A	ENST00000297268.6	+	43	3254	c.2783G>A	c.(2782-2784)gGc>gAc	p.G928D		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	928					axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	TCTTCACAGGGCAACCCTGGG	0.493										HNSCC(75;0.22)			4	89					0	0	1	0	0	A	94054923	G	A	94054923	5	1	417	1	0	0	0	0	0	0	1	0	3701	1217	42	2	2953	2	COL1A2	7	94054923	Splice_Site	SNP	G	TCGA-S9-A6U1-01A-21D-A33T-08	56274148	94054923	65083740	12	34148											
PTPDC1	138639	broad.mit.edu	37	9	96859944	96859944	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6U1-01A-21D-A33T-08	TCGA-S9-A6U1-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b195ecbd-19d9-44f9-87b6-f3cee5b93490	119a0ced-acee-46e4-8534-c42b39d35197	g.chr9:96859944G>A	ENST00000375360.3	+	7	1274	c.934G>A	c.(934-936)Gaa>Aaa	p.E312K	PTPDC1_ENST00000288976.3_Missense_Mutation_p.E364K	NM_001253830.1|NM_177995.2	NP_001240759.1|NP_818931.1	A2A3K4	PTPC1_HUMAN	protein tyrosine phosphatase domain containing 1	312							protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.E364K(1)|p.E312K(1)		endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	32						GGATGTGTCCGAAGGACCTGG	0.468													4	229					0	0	1	0	0	A	96859944	G	A	96859944	3	1	417	1	0	0	0	0	1	0	0	0	12823	1059	37	1	1198	1	PTPDC1	9	96859944	Missense_Mutation	SNP	G	TCGA-S9-A6U1-01A-21D-A33T-08		96859944	44353487	13	34149											
SEC23IP	11196	broad.mit.edu	37	10	121663645	121663645	+	Silent	SNP	C	C	T			TCGA-S9-A6U1-01A-21D-A33T-08	TCGA-S9-A6U1-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b195ecbd-19d9-44f9-87b6-f3cee5b93490	119a0ced-acee-46e4-8534-c42b39d35197	g.chr10:121663645C>T	ENST00000369075.3	+	4	1029	c.957C>T	c.(955-957)taC>taT	p.Y319Y	SEC23IP_ENST00000543134.1_Silent_p.Y108Y	NM_007190.3	NP_009121.1	Q9Y6Y8	S23IP_HUMAN	SEC23 interacting protein	319	Interaction with SEC23A.				Golgi organization|intracellular protein transport	endoplasmic reticulum|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment	metal ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	36		Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234)		all cancers(201;0.00515)		GAGGGCGCTACGATGTTTACC	0.488													56	116					0	0	1	0	0	T	121663645	C	T	121663645	2	4	417	1	0	0	0	0	0	0	0	1	14047	547	19	1		1	SEC23IP	10	121663645	Silent	SNP	C	TCGA-S9-A6U1-01A-21D-A33T-08		121663645	13871102	14	34150											
MS4A1	931	broad.mit.edu	37	11	60233595	60233595	+	Missense_Mutation	SNP	A	A	C			TCGA-S9-A6U1-01A-21D-A33T-08	TCGA-S9-A6U1-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b195ecbd-19d9-44f9-87b6-f3cee5b93490	119a0ced-acee-46e4-8534-c42b39d35197	g.chr11:60233595A>C	ENST00000534668.1	+	5	827	c.538A>C	c.(538-540)Acc>Ccc	p.T180P	MS4A1_ENST00000532073.1_Missense_Mutation_p.T180P|MS4A1_ENST00000528313.1_Intron|MS4A1_ENST00000389939.2_Missense_Mutation_p.T180P|MS4A1_ENST00000345732.4_Missense_Mutation_p.T180P	NM_152866.2	NP_690605.1	P11836	CD20_HUMAN	membrane-spanning 4-domains, subfamily A, member 1	180					B cell activation|immune response	integral to plasma membrane				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24					Ibritumomab(DB00078)|Rituximab(DB00073)|Tositumomab(DB00081)	CTCCCCATCTACCCAATACTG	0.373													16	224					0	0	1	0	0	C	60233595	A	C	60233595	3	2	417	1	0	0	0	0	1	0	0	0	9903	391	14	5	552	5	MS4A1	11	60233595	Missense_Mutation	SNP	A	TCGA-S9-A6U1-01A-21D-A33T-08		60233595	74772921	15	34151											
SLC22A6	9356	broad.mit.edu	37	11	62744652	62744652	+	Nonsense_Mutation	SNP	C	C	T			TCGA-S9-A6U1-01A-21D-A33T-08	TCGA-S9-A6U1-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b195ecbd-19d9-44f9-87b6-f3cee5b93490	119a0ced-acee-46e4-8534-c42b39d35197	g.chr11:62744652C>T	ENST00000377871.3	-	9	1835	c.1569G>A	c.(1567-1569)tgG>tgA	p.W523*	SLC22A6_ENST00000421062.2_Nonsense_Mutation_p.W479*|SLC22A6_ENST00000360421.4_Intron|SLC22A6_ENST00000458333.2_Intron	NM_004790.4|NM_153278.2	NP_004781.2|NP_695010.1	Q4U2R8	S22A6_HUMAN	solute carrier family 22 (organic anion transporter), member 6	523					alpha-ketoglutarate transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(18)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						gagTGGGGGCCCACCTGCTCT	0.607													8	213					0	0	1	0	0	T	62744652	C	T	62744652	4	4	417	1	0	0	0	0	0	1	0	0	14513	624	22	2	130	2	SLC22A6	11	62744652	Nonsense_Mutation	SNP	C	TCGA-S9-A6U1-01A-21D-A33T-08	2511057	62744652	72261864	16	34152											
INTS4	92105	broad.mit.edu	37	11	77629973	77629973	+	Missense_Mutation	SNP	G	G	C			TCGA-S9-A6U1-01A-21D-A33T-08	TCGA-S9-A6U1-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b195ecbd-19d9-44f9-87b6-f3cee5b93490	119a0ced-acee-46e4-8534-c42b39d35197	g.chr11:77629973G>C	ENST00000534064.1	-	15	1850	c.1816C>G	c.(1816-1818)Caa>Gaa	p.Q606E		NM_033547.3	NP_291025.3	Q96HW7	INT4_HUMAN	integrator complex subunit 4	606					snRNA processing	integrator complex	protein binding		INTS4/GAB2(2)	NS(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(5)|upper_aerodigestive_tract(1)	32	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		Epithelial(5;1.13e-46)|all cancers(3;8.92e-44)|BRCA - Breast invasive adenocarcinoma(5;8.4e-26)|OV - Ovarian serous cystadenocarcinoma(8;1.05e-23)			GGATCCTCTTGAGGTATGATG	0.493													89	141					0	0	1	0	0	C	77629973	G	C	77629973	3	2	417	1	0	0	0	0	1	0	0	0	7824	1299	45	5	1111	5	INTS4	11	77629973	Missense_Mutation	SNP	G	TCGA-S9-A6U1-01A-21D-A33T-08	14885321	77629973	57376543	17	34153											
ACVRL1	94	broad.mit.edu	37	12	52310011	52310011	+	Missense_Mutation	SNP	G	G	T			TCGA-S9-A6U1-01A-21D-A33T-08	TCGA-S9-A6U1-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b195ecbd-19d9-44f9-87b6-f3cee5b93490	119a0ced-acee-46e4-8534-c42b39d35197	g.chr12:52310011G>T	ENST00000550683.1	+	7	1383	c.1282G>T	c.(1282-1284)Gtg>Ttg	p.V428L	ACVRL1_ENST00000419526.2_Missense_Mutation_p.V240L|ACVRL1_ENST00000388922.4_Missense_Mutation_p.V414L	NM_001077401.1	NP_001070869.1	P37023	ACVL1_HUMAN	activin A receptor type II-like 1	414	Protein kinase.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|blood vessel maturation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of endothelial cell migration|negative regulation of focal adhesion assembly|positive regulation of BMP signaling pathway|positive regulation of transcription, DNA-dependent|regulation of blood pressure|regulation of blood vessel endothelial cell migration|regulation of DNA replication|regulation of endothelial cell proliferation|transforming growth factor beta receptor signaling pathway|wound healing, spreading of epidermal cells	cell surface|integral to plasma membrane	activin binding|activin receptor activity, type I|ATP binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	20				BRCA - Breast invasive adenocarcinoma(357;0.0991)	Adenosine triphosphate(DB00171)	CCGGACCATCGTGAATGGTGA	0.622													3	45					1	1	1	1	0	T	52310011	G	T	52310011	3	4	417	1	0	0	0	0	1	0	0	0	224	1145	40	5	1266	5	ACVRL1	12	52310011	Missense_Mutation	SNP	G	TCGA-S9-A6U1-01A-21D-A33T-08		52310011	81541884	18	34154											
TIMELESS	8914	broad.mit.edu	37	12	56815192	56815192	+	Silent	SNP	C	C	T			TCGA-S9-A6U1-01A-21D-A33T-08	TCGA-S9-A6U1-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b195ecbd-19d9-44f9-87b6-f3cee5b93490	119a0ced-acee-46e4-8534-c42b39d35197	g.chr12:56815192C>T	ENST00000229201.4	-	23	2962	c.2808G>A	c.(2806-2808)gtG>gtA	p.V936V	TIMELESS_ENST00000554616.1_Silent_p.V434V|TIMELESS_ENST00000553532.1_Silent_p.V937V	NM_003920.3	NP_003911.2	Q9UNS1	TIM_HUMAN	timeless circadian clock	937					cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent	nuclear chromatin				NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						GCCGCTCAGCCACCAGCCCCA	0.517													14	247					0	0	1	0	0	T	56815192	C	T	56815192	2	4	417	1	0	0	0	0	0	0	0	1	15964	581	21	2		2	TIMELESS	12	56815192	Silent	SNP	C	TCGA-S9-A6U1-01A-21D-A33T-08	4505181	56815192	77036703	19	34155											
AGAP2	116986	broad.mit.edu	37	12	58121782	58121782	+	Frame_Shift_Del	DEL	C	C	-			TCGA-S9-A6U1-01A-21D-A33T-08	TCGA-S9-A6U1-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b195ecbd-19d9-44f9-87b6-f3cee5b93490	119a0ced-acee-46e4-8534-c42b39d35197	g.chr12:58121782delC	ENST00000257897.3	-	14	1721	c.1636delG	c.(1636-1638)gtcfs	p.V546fs	AGAP2_ENST00000547588.1_Frame_Shift_Del_p.V902fs|AGAP2-AS1_ENST00000542466.2_3'UTR	NM_014770.3	NP_055585.1	Q99490	AGAP2_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 2	902	G domain.				axon guidance|negative regulation of neuron apoptosis|negative regulation of protein catabolic process|protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	mitochondrion|nucleolus	ARF GTPase activator activity|GTP binding|zinc ion binding			breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|large_intestine(7)|lung(20)|prostate(3)|skin(1)|stomach(1)	48						ATGGCCTGGACCCAGGCATCC	0.567													7	271	---	---	---	---						-	58121782	C	-	58121782	7	5	417	1	0	1	0	1	0	0	0	0	367	507	18	0	894	0	AGAP2	12	58121782	Frame_Shift_Del	DEL	C	TCGA-S9-A6U1-01A-21D-A33T-08	1306590	58121782	75730113	20	34156											
CMA1	1215	broad.mit.edu	37	14	24974844	24974844	+	Silent	SNP	G	G	A			TCGA-S9-A6U1-01A-21D-A33T-08	TCGA-S9-A6U1-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b195ecbd-19d9-44f9-87b6-f3cee5b93490	119a0ced-acee-46e4-8534-c42b39d35197	g.chr14:24974844G>A	ENST00000250378.3	-	5	651	c.622C>T	c.(622-624)Ctg>Ttg	p.L208L	CMA1_ENST00000206446.4_Silent_p.L97L|RP11-80A15.1_ENST00000555109.1_Intron	NM_001836.3	NP_001827.1	P23946	CMA1_HUMAN	chymase 1, mast cell	208	Peptidase S1.				interleukin-1 beta biosynthetic process|proteolysis	extracellular region	serine-type endopeptidase activity			kidney(1)|lung(8)|pancreas(1)|prostate(1)	11				GBM - Glioblastoma multiforme(265;0.0271)		CCAGCACACAGAAGAGGGCCC	0.612													8	142					0	0	1	0	0	A	24974844	G	A	24974844	2	1	417	1	0	0	0	0	0	0	0	1	3597	933	33	2		2	CMA1	14	24974844	Silent	SNP	G	TCGA-S9-A6U1-01A-21D-A33T-08		24974844	82374696	21	34157											
SSTR1	6751	broad.mit.edu	37	14	38679188	38679188	+	Silent	SNP	C	C	G			TCGA-S9-A6U1-01A-21D-A33T-08	TCGA-S9-A6U1-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b195ecbd-19d9-44f9-87b6-f3cee5b93490	119a0ced-acee-46e4-8534-c42b39d35197	g.chr14:38679188C>G	ENST00000267377.2	+	3	1211	c.594C>G	c.(592-594)acC>acG	p.T198T		NM_001049.2	NP_001040.1	P30872	SSR1_HUMAN	somatostatin receptor 1	198					digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation|response to nutrient	integral to plasma membrane	somatostatin receptor activity			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00444)	Octreotide(DB00104)	TCTCTCGCACCGCGGCCAACA	0.637													7	98					0	0	1	0	0	G	38679188	C	G	38679188	2	3	417	1	0	0	0	0	0	0	0	1	15253	639	23	5		5	SSTR1	14	38679188	Silent	SNP	C	TCGA-S9-A6U1-01A-21D-A33T-08	13704344	38679188	68670352	22	34158											
EPB42	2038	broad.mit.edu	37	15	43512971	43512971	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6U1-01A-21D-A33T-08	TCGA-S9-A6U1-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b195ecbd-19d9-44f9-87b6-f3cee5b93490	119a0ced-acee-46e4-8534-c42b39d35197	g.chr15:43512971G>A	ENST00000300215.3	-	1	510	c.53C>T	c.(52-54)gCa>gTa	p.A18V	EPB42_ENST00000441366.2_Intron|EPB42_ENST00000540029.1_Intron			P16452	EPB42_HUMAN	erythrocyte membrane protein band 4.2	0					erythrocyte maturation|peptide cross-linking|regulation of cell shape	cytoplasm|cytoskeleton|plasma membrane	ATP binding|protein binding|protein-glutamine gamma-glutamyltransferase activity|structural constituent of cytoskeleton			endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.7e-07)		TGCGGGGGCTGCATACAGTCC	0.582													5	323					0	0	1	0	0	A	43512971	G	A	43512971	3	1	417	1	0	0	0	0	1	0	0	0	5186	1319	46	2	2164	2	EPB42	15	43512971	Missense_Mutation	SNP	G	TCGA-S9-A6U1-01A-21D-A33T-08		43512971	59018421	23	34159											
UACA	55075	broad.mit.edu	37	15	70961406	70961406	+	Silent	SNP	G	G	A			TCGA-S9-A6U1-01A-21D-A33T-08	TCGA-S9-A6U1-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b195ecbd-19d9-44f9-87b6-f3cee5b93490	119a0ced-acee-46e4-8534-c42b39d35197	g.chr15:70961406G>A	ENST00000322954.6	-	16	1802	c.1617C>T	c.(1615-1617)acC>acT	p.T539T	UACA_ENST00000560441.1_Silent_p.T524T|UACA_ENST00000539319.1_Silent_p.T430T|UACA_ENST00000379983.2_Silent_p.T526T	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and ankyrin repeats	539						cytoskeleton|extracellular region		p.T526T(1)|p.T539T(1)		breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						TCAGTTCCTCGGTTAGTCTGT	0.383													15	355					0	0	1	0	0	A	70961406	G	A	70961406	2	1	417	1	0	0	0	0	0	0	0	1	16885	1103	39	1		1	UACA	15	70961406	Silent	SNP	G	TCGA-S9-A6U1-01A-21D-A33T-08	27448435	70961406	31569986	24	34160											
CCDC33	80125	broad.mit.edu	37	15	74625122	74625122	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6U1-01A-21D-A33T-08	TCGA-S9-A6U1-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b195ecbd-19d9-44f9-87b6-f3cee5b93490	119a0ced-acee-46e4-8534-c42b39d35197	g.chr15:74625122G>A	ENST00000321288.5	+	18	2483	c.2483G>A	c.(2482-2484)cGg>cAg	p.R828Q	CCDC33_ENST00000268082.4_Missense_Mutation_p.R218Q|CCDC33_ENST00000398814.3_Missense_Mutation_p.R625Q|CCDC33_ENST00000558821.1_Missense_Mutation_p.R218Q			Q8N5R6	CCD33_HUMAN	coiled-coil domain containing 33	828							protein binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						GCGAAGCTGCGGACGGAGCTG	0.602													14	191					0	0	1	0	0	A	74625122	G	A	74625122	3	1	417	1	0	0	0	0	1	0	0	0	2825	1116	39	1	2009	1	CCDC33	15	74625122	Missense_Mutation	SNP	G	TCGA-S9-A6U1-01A-21D-A33T-08	3663716	74625122	27906270	25	34161											
OR4F6	390648	broad.mit.edu	37	15	102346232	102346232	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A6U1-01A-21D-A33T-08	TCGA-S9-A6U1-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b195ecbd-19d9-44f9-87b6-f3cee5b93490	119a0ced-acee-46e4-8534-c42b39d35197	g.chr15:102346232A>G	ENST00000328882.4	+	1	331	c.310A>G	c.(310-312)Atc>Gtc	p.I104V		NM_001005326.1	NP_001005326.1	Q8NGB9	OR4F6_HUMAN	olfactory receptor, family 4, subfamily F, member 6	104					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(1)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)			GATCTTCTTTATCCATGCAGT	0.458													13	465					0	0	1	0	0	G	102346232	A	G	102346232	3	3	417	1	0	0	0	0	1	0	0	0	11114	449	16	3	312	3	OR4F6	15	102346232	Missense_Mutation	SNP	A	TCGA-S9-A6U1-01A-21D-A33T-08	27721110	102346232	185160	26	34162											
VAC14	55697	broad.mit.edu	37	16	70834803	70834803	+	Translation_Start_Site	SNP	T	T	C			TCGA-S9-A6U1-01A-21D-A33T-08	TCGA-S9-A6U1-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b195ecbd-19d9-44f9-87b6-f3cee5b93490	119a0ced-acee-46e4-8534-c42b39d35197	g.chr16:70834803T>C	ENST00000261776.5	-	1	261	c.1A>G	c.(1-3)Atg>Gtg	p.M1V		NM_018052.3	NP_060522.3	Q08AM6	VAC14_HUMAN	Vac14 homolog (S. cerevisiae)	1					interspecies interaction between organisms	endoplasmic reticulum|endosome membrane|microsome	protein binding|receptor activity			breast(2)|endometrium(2)|kidney(10)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Ovarian(137;0.0699)				TCGGGGTTCATGGTGGCAGCT	0.697													4	83					0	0	1	0	0	C	70834803	T	C	70834803	1	2	417	1	0	0	0	0	0	0	0	0	17171	1464	51	3		3	VAC14	16	70834803	Translation_Start_Site	SNP	T	TCGA-S9-A6U1-01A-21D-A33T-08		70834803	19519950	27	34163											
DSG1	1828	broad.mit.edu	37	18	28919761	28919761	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6U1-01A-21D-A33T-08	TCGA-S9-A6U1-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b195ecbd-19d9-44f9-87b6-f3cee5b93490	119a0ced-acee-46e4-8534-c42b39d35197	g.chr18:28919761G>A	ENST00000257192.4	+	11	1672	c.1460G>A	c.(1459-1461)gGt>gAt	p.G487D		NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	487	Cadherin 4.				calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			CAAAGTTTTGGTAATGACGAC	0.328													8	138					0	0	1	0	0	A	28919761	G	A	28919761	3	1	417	1	0	0	0	0	1	0	0	0	4802	1261	44	2	1502	2	DSG1	18	28919761	Missense_Mutation	SNP	G	TCGA-S9-A6U1-01A-21D-A33T-08		28919761	49157487	28	34164											
SEL1L2	80343	broad.mit.edu	37	20	13850848	13850848	+	Splice_Site	SNP	C	C	T			TCGA-S9-A6U1-01A-21D-A33T-08	TCGA-S9-A6U1-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b195ecbd-19d9-44f9-87b6-f3cee5b93490	119a0ced-acee-46e4-8534-c42b39d35197	g.chr20:13850848C>T	ENST00000284951.5	-	13	1180	c.1106G>A	c.(1105-1107)gGc>gAc	p.G369D	SEL1L2_ENST00000378072.5_Splice_Site_p.G369D|SEL1L2_ENST00000486903.1_5'UTR			Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 (C. elegans)	369						integral to membrane	binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						GATTGCATTGCCCTAGAAGAG	0.338													12	153					0	0	1	0	0	T	13850848	C	T	13850848	5	4	417	1	0	0	0	0	0	0	1	0	14065	753	26	2	992	2	SEL1L2	20	13850848	Splice_Site	SNP	C	TCGA-S9-A6U1-01A-21D-A33T-08		13850848	49174672	29	34165											
XKR3	150165	broad.mit.edu	37	22	17264884	17264884	+	Frame_Shift_Del	DEL	A	A	-			TCGA-S9-A6U1-01A-21D-A33T-08	TCGA-S9-A6U1-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b195ecbd-19d9-44f9-87b6-f3cee5b93490	119a0ced-acee-46e4-8534-c42b39d35197	g.chr22:17264884delA	ENST00000331428.5	-	4	1107	c.1005delT	c.(1003-1005)attfs	p.I335fs		NM_175878.3	NP_787074.2	Q5GH77	XKR3_HUMAN	XK, Kell blood group complex subunit-related family, member 3	335						integral to membrane|plasma membrane				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				GTCTCCCGTCAATTATTTTGT	0.408													90	42	---	---	---	---						-	17264884	A	-	17264884	7	5	417	1	0	1	0	1	0	0	0	0	17492	126	5	0	378	0	XKR3	22	17264884	Frame_Shift_Del	DEL	A	TCGA-S9-A6U1-01A-21D-A33T-08		17264884	34039682	30	34166											
ZXDB	158586	broad.mit.edu	37	X	57619097	57619097	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6U1-01A-21D-A33T-08	TCGA-S9-A6U1-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b195ecbd-19d9-44f9-87b6-f3cee5b93490	119a0ced-acee-46e4-8534-c42b39d35197	g.chrX:57619097G>A	ENST00000374888.1	+	1	829	c.616G>A	c.(616-618)Ggg>Agg	p.G206R		NM_007157.3	NP_009088.1	P98169	ZXDB_HUMAN	zinc finger, X-linked, duplicated B	206					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	p.G206R(2)		NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(2)|skin(6)	27						CCAGCAGCCCGGGTGTCTGAT	0.711													3	32					0	0	1	0	0	A	57619097	G	A	57619097	3	1	417	1	0	0	0	0	1	0	0	0	18291	1116	39	1	618	1	ZXDB	23	57619097	Missense_Mutation	SNP	G	TCGA-S9-A6U1-01A-21D-A33T-08		57619097	97651463	31	34167											
ATRX	546	broad.mit.edu	37	X	76937477	76937480	+	Frame_Shift_Del	DEL	TCTC	TCTC	-			TCGA-S9-A6U1-01A-21D-A33T-08	TCGA-S9-A6U1-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b195ecbd-19d9-44f9-87b6-f3cee5b93490	119a0ced-acee-46e4-8534-c42b39d35197	g.chrX:76937477_76937480delTCTC	ENST00000373344.5	-	9	3482_3485	c.3268_3271delGAGA	c.(3268-3273)gagaagfs	p.EK1090fs	ATRX_ENST00000395603.3_Frame_Shift_Del_p.EK1052fs|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1090					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)	CACCTTTTCTTCTCTCTACCATAT	0.377			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						221	438	---	---	---	---						-	76937480	TCTC	-	76937477	7	5	417	1	0	1	0	1	0	0	0	0	1206	1792	62	0	4315	0	ATRX	23	76937477	Frame_Shift_Del	DEL	TCTC	TCGA-S9-A6U1-01A-21D-A33T-08	19318380	76937477	78333083	32	34168											
PCDH19	57526	broad.mit.edu	37	X	99662844	99662844	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6U1-01A-21D-A33T-08	TCGA-S9-A6U1-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b195ecbd-19d9-44f9-87b6-f3cee5b93490	119a0ced-acee-46e4-8534-c42b39d35197	g.chrX:99662844G>A	ENST00000373034.4	-	1	2427	c.752C>T	c.(751-753)tCg>tTg	p.S251L	PCDH19_ENST00000420881.2_Missense_Mutation_p.S251L|PCDH19_ENST00000255531.7_Missense_Mutation_p.S251L	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	251	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						GTTGGGAGGCGAGTTTTCTGG	0.602													74	209					0	0	1	0	0	A	99662844	G	A	99662844	3	1	417	1	0	0	0	0	1	0	0	0	11561	1059	37	1	2718	1	PCDH19	23	99662844	Missense_Mutation	SNP	G	TCGA-S9-A6U1-01A-21D-A33T-08	22725367	99662844	55607716	33	34169											
FRMD7	90167	broad.mit.edu	37	X	131216554	131216554	+	Splice_Site	SNP	C	C	A			TCGA-S9-A6U1-01A-21D-A33T-08	TCGA-S9-A6U1-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b195ecbd-19d9-44f9-87b6-f3cee5b93490	119a0ced-acee-46e4-8534-c42b39d35197	g.chrX:131216554C>A	ENST00000298542.4	-	9	917	c.742G>T	c.(742-744)Gtg>Ttg	p.V248L	FRMD7_ENST00000464296.1_Splice_Site_p.V233L|FRMD7_ENST00000370879.1_Splice_Site_p.V128L	NM_194277.2	NP_919253.1	Q6ZUT3	FRMD7_HUMAN	FERM domain containing 7	248	FERM.				regulation of neuron projection development	cytoskeleton|growth cone|neuronal cell body	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Acute lymphoblastic leukemia(192;0.000127)					TTGCACAACACCTGTATAAAC	0.448													11	297					4.68919e-08	5.12539e-08	1	1	0	A	131216554	C	A	131216554	5	1	417	1	0	0	0	0	0	0	1	0	6090	521	18	5	1418	5	FRMD7	23	131216554	Splice_Site	SNP	C	TCGA-S9-A6U1-01A-21D-A33T-08	31553710	131216554	24054006	34	34170											
ARID1A	8289	broad.mit.edu	37	1	27094325	27094325	+	Missense_Mutation	SNP	G	G	T			TCGA-S9-A6U2-01A-21D-A33T-08	TCGA-S9-A6U2-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ecbe036-e918-43d5-8ed5-27fb6e2f56fa	f132b367-6bb5-4f3a-bf26-03d87381fa65	g.chr1:27094325G>T	ENST00000324856.7	+	11	3404	c.3033G>T	c.(3031-3033)ttG>ttT	p.L1011F	ARID1A_ENST00000374152.2_Missense_Mutation_p.L628F|ARID1A_ENST00000457599.2_Missense_Mutation_p.L1011F	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1011					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		TCACCAAGTTGTATGAGCTGG	0.483			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"								5	93					0.014758	0.015072	1	1	0	T	27094325	G	T	27094325	3	4	418	1	0	0	0	0	1	0	0	0	910	1368	48	5	3075	5	ARID1A	1	27094325	Missense_Mutation	SNP	G	TCGA-S9-A6U2-01A-21D-A33T-08		27094325	222156296	1	34171											
FLG	2312	broad.mit.edu	37	1	152280920	152280920	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6U2-01A-21D-A33T-08	TCGA-S9-A6U2-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ecbe036-e918-43d5-8ed5-27fb6e2f56fa	f132b367-6bb5-4f3a-bf26-03d87381fa65	g.chr1:152280920C>T	ENST00000368799.1	-	3	6477	c.6442G>A	c.(6442-6444)Gga>Aga	p.G2148R	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2148	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCCTGTCTTCCTCCTCTGCTT	0.577									Ichthyosis				292	855					0	0	1	0	0	T	152280920	C	T	152280920	3	4	418	1	0	0	0	0	1	0	0	0	5955	690	24	2	5747	2	FLG	1	152280920	Missense_Mutation	SNP	C	TCGA-S9-A6U2-01A-21D-A33T-08	125186595	152280920	96969701	2	34172											
C2orf61	285051	broad.mit.edu	37	2	47382321	47382321	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A6U2-01A-21D-A33T-08	TCGA-S9-A6U2-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ecbe036-e918-43d5-8ed5-27fb6e2f56fa	f132b367-6bb5-4f3a-bf26-03d87381fa65	g.chr2:47382321T>C	ENST00000294947.2	-	1	105	c.70A>G	c.(70-72)Atc>Gtc	p.I24V	RP11-761B3.1_ENST00000422269.1_Intron|C2orf61_ENST00000445927.2_Missense_Mutation_p.I24V	NM_173649.2	NP_775920.1	Q8N801	CB061_HUMAN	chromosome 2 open reading frame 61	24								p.0?(2)		endometrium(1)|kidney(1)|lung(2)	4		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)			GAAGCTGTGATGAATGATTCT	0.607													15	43					0	0	1	0	0	C	47382321	T	C	47382321	3	2	418	1	0	0	0	0	1	0	0	0	2194	1464	51	3	719	3	C2orf61	2	47382321	Missense_Mutation	SNP	T	TCGA-S9-A6U2-01A-21D-A33T-08		47382321	195817052	3	34173											
IL1RL1	9173	broad.mit.edu	37	2	102964544	102964544	+	Silent	SNP	T	T	C			TCGA-S9-A6U2-01A-21D-A33T-08	TCGA-S9-A6U2-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ecbe036-e918-43d5-8ed5-27fb6e2f56fa	f132b367-6bb5-4f3a-bf26-03d87381fa65	g.chr2:102964544T>C	ENST00000233954.1	+	9	1381	c.1110T>C	c.(1108-1110)acT>acC	p.T370T		NM_016232.4	NP_057316.3	Q01638	ILRL1_HUMAN	interleukin 1 receptor-like 1	370					innate immune response	integral to membrane	interleukin-1 receptor activity|receptor signaling protein activity	p.T370T(2)		NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1)	16						CTTACAAGACTAGGAATGGTA	0.383													5	105					0	0	1	0	0	C	102964544	T	C	102964544	2	2	418	1	0	0	0	0	0	0	0	1	7707	1509	53	3		3	IL1RL1	2	102964544	Silent	SNP	T	TCGA-S9-A6U2-01A-21D-A33T-08	55582223	102964544	140234829	4	34174											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-S9-A6U2-01A-21D-A33T-08	TCGA-S9-A6U2-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ecbe036-e918-43d5-8ed5-27fb6e2f56fa	f132b367-6bb5-4f3a-bf26-03d87381fa65	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	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								57	118					0	0	1	0	0	T	209113112	C	T	209113112	3	4	418	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-S9-A6U2-01A-21D-A33T-08	106148568	209113112	34086261	5	34175											
TRPM8	79054	broad.mit.edu	37	2	234905161	234905161	+	Splice_Site	SNP	G	G	C			TCGA-S9-A6U2-01A-21D-A33T-08	TCGA-S9-A6U2-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ecbe036-e918-43d5-8ed5-27fb6e2f56fa	f132b367-6bb5-4f3a-bf26-03d87381fa65	g.chr2:234905161G>C	ENST00000324695.4	+	22	3170		c.e22+1		TRPM8_ENST00000433712.2_Splice_Site	NM_024080.4	NP_076985.4	Q7Z2W7	TRPM8_HUMAN	transient receptor potential cation channel, subfamily M, member 8							integral to membrane				breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	TCTGTCTGCTGTGAGTGGTTT	0.453													39	91					0	0	1	0	0	C	234905161	G	C	234905161	5	2	418	1	0	0	0	0	0	0	1	0	16653	1391	48	5	3213	5	TRPM8	2	234905161	Splice_Site	SNP	G	TCGA-S9-A6U2-01A-21D-A33T-08	25792049	234905161	8294212	6	34176											
PIK3CA	5290	broad.mit.edu	37	3	178916929	178916929	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6U2-01A-21D-A33T-08	TCGA-S9-A6U2-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ecbe036-e918-43d5-8ed5-27fb6e2f56fa	f132b367-6bb5-4f3a-bf26-03d87381fa65	g.chr3:178916929G>A	ENST00000263967.3	+	2	473	c.316G>A	c.(316-318)Ggc>Agc	p.G106S		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	106	PI3K-ABD.		G -> V (in cancer; shows an increase in lipid kinase activity).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.G106R(3)|p.G106_R108delGNR(2)|p.G106_R108del(1)|p.P104_G106>R(1)|p.E103_G106>D(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TGAACCAGTAGGCAACCGTGA	0.348		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			82	122					0	0	1	0	0	A	178916929	G	A	178916929	3	1	418	1	0	0	0	0	1	0	0	0	11961	1000	35	2	318	2	PIK3CA	3	178916929	Missense_Mutation	SNP	G	TCGA-S9-A6U2-01A-21D-A33T-08		178916929	19105501	7	34177											
HIVEP1	3096	broad.mit.edu	37	6	12161698	12161698	+	Nonsense_Mutation	SNP	C	C	T			TCGA-S9-A6U2-01A-21D-A33T-08	TCGA-S9-A6U2-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ecbe036-e918-43d5-8ed5-27fb6e2f56fa	f132b367-6bb5-4f3a-bf26-03d87381fa65	g.chr6:12161698C>T	ENST00000379388.2	+	8	6846	c.6514C>T	c.(6514-6516)Cga>Tga	p.R2172*	HIVEP1_ENST00000541134.1_Nonsense_Mutation_p.R37*	NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	2172					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				CAGTTATGAGCGATCTGGATA	0.383													82	150					0	0	1	0	0	T	12161698	C	T	12161698	4	4	418	1	0	0	0	0	0	1	0	0	7227	760	27	1	6540	1	HIVEP1	6	12161698	Nonsense_Mutation	SNP	C	TCGA-S9-A6U2-01A-21D-A33T-08		12161698	158953369	8	34178											
DCDC2	51473	broad.mit.edu	37	6	24205328	24205328	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6U2-01A-21D-A33T-08	TCGA-S9-A6U2-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ecbe036-e918-43d5-8ed5-27fb6e2f56fa	f132b367-6bb5-4f3a-bf26-03d87381fa65	g.chr6:24205328C>T	ENST00000378454.3	-	8	1226	c.925G>A	c.(925-927)Gaa>Aaa	p.E309K	DCDC2_ENST00000378450.3_Missense_Mutation_p.E62K	NM_001195610.1|NM_016356.3	NP_001182539.1|NP_057440.2	Q9UHG0	DCDC2_HUMAN	doublecortin domain containing 2	309					cellular defense response|intracellular signal transduction|neuron migration					breast(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32		Ovarian(999;0.101)				AAAATGCCTTCATCTATTGAG	0.413													7	290					0	0	1	0	0	T	24205328	C	T	24205328	3	4	418	1	0	0	0	0	1	0	0	0	4308	835	29	2	517	2	DCDC2	6	24205328	Missense_Mutation	SNP	C	TCGA-S9-A6U2-01A-21D-A33T-08	12043630	24205328	146909739	9	34179											
EHMT2	10919	broad.mit.edu	37	6	31847952	31847952	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6U2-01A-21D-A33T-08	TCGA-S9-A6U2-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ecbe036-e918-43d5-8ed5-27fb6e2f56fa	f132b367-6bb5-4f3a-bf26-03d87381fa65	g.chr6:31847952G>A	ENST00000395728.3	-	27	3712	c.3713C>T	c.(3712-3714)gCc>gTc	p.A1238V	EHMT2_ENST00000375530.4_Missense_Mutation_p.A1147V|EHMT2_ENST00000375528.4_Missense_Mutation_p.A1204V|EHMT2_ENST00000375537.4_Missense_Mutation_p.A1181V|EHMT2_ENST00000480912.1_5'UTR			Q96KQ7	EHMT2_HUMAN	euchromatic histone-lysine N-methyltransferase 2	1181					DNA methylation|peptidyl-lysine dimethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	21						CAGGGCAATGGCTTCGGCTGA	0.592													40	68					0	0	1	0	0	A	31847952	G	A	31847952	3	1	418	1	0	0	0	0	1	0	0	0	5010	1203	42	2	94	2	EHMT2	6	31847952	Missense_Mutation	SNP	G	TCGA-S9-A6U2-01A-21D-A33T-08	7642624	31847952	139267115	10	34180											
DNAH8	1769	broad.mit.edu	37	6	38794044	38794044	+	Missense_Mutation	SNP	T	T	A			TCGA-S9-A6U2-01A-21D-A33T-08	TCGA-S9-A6U2-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ecbe036-e918-43d5-8ed5-27fb6e2f56fa	f132b367-6bb5-4f3a-bf26-03d87381fa65	g.chr6:38794044T>A	ENST00000359357.3	+	27	3563	c.3309T>A	c.(3307-3309)aaT>aaA	p.N1103K	DNAH8_ENST00000441566.1_Missense_Mutation_p.N1103K|DNAH8_ENST00000449981.2_Missense_Mutation_p.N1320K					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						CATTTATTAATGAATACTTGA	0.348													60	116					0	0	1	0	0	A	38794044	T	A	38794044	3	1	418	1	0	0	0	0	1	0	0	0	4634	1461	51	4	3407	4	DNAH8	6	38794044	Missense_Mutation	SNP	T	TCGA-S9-A6U2-01A-21D-A33T-08	6946092	38794044	132321023	11	34181											
SUPT3H	8464	broad.mit.edu	37	6	45073683	45073683	+	Silent	SNP	C	C	T			TCGA-S9-A6U2-01A-21D-A33T-08	TCGA-S9-A6U2-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ecbe036-e918-43d5-8ed5-27fb6e2f56fa	f132b367-6bb5-4f3a-bf26-03d87381fa65	g.chr6:45073683C>T	ENST00000371460.1	-	5	512	c.195G>A	c.(193-195)gtG>gtA	p.V65V	SUPT3H_ENST00000371459.1_Silent_p.V54V|SUPT3H_ENST00000371461.2_Silent_p.V65V|SUPT3H_ENST00000306867.5_Silent_p.V54V	NM_181356.2	NP_852001.1	O75486	SUPT3_HUMAN	suppressor of Ty 3 homolog (S. cerevisiae)	136					histone deubiquitination|histone H3 acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	STAGA complex|transcription factor TFTC complex	DNA binding|transcription coactivator activity			breast(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)	12						GAGTGTGTACCACATCTTCTA	0.328													51	141					0	0	1	0	0	T	45073683	C	T	45073683	2	4	418	1	0	0	0	0	0	0	0	1	15453	581	21	2		2	SUPT3H	6	45073683	Silent	SNP	C	TCGA-S9-A6U2-01A-21D-A33T-08	6279639	45073683	126041384	12	34182											
STX11	8676	broad.mit.edu	37	6	144508016	144508016	+	Silent	SNP	C	C	T			TCGA-S9-A6U2-01A-21D-A33T-08	TCGA-S9-A6U2-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ecbe036-e918-43d5-8ed5-27fb6e2f56fa	f132b367-6bb5-4f3a-bf26-03d87381fa65	g.chr6:144508016C>T	ENST00000367568.4	+	2	435	c.252C>T	c.(250-252)cgC>cgT	p.R84R		NM_003764.3	NP_003755.2	O75558	STX11_HUMAN	syntaxin 11	84					cellular membrane fusion|intracellular protein transport|vesicle-mediated transport	Golgi apparatus|membrane	SNAP receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	12				OV - Ovarian serous cystadenocarcinoma(155;2.17e-06)|GBM - Glioblastoma multiforme(68;0.0492)		GCATCAAGCGCGACACCAACT	0.647									Familial Hemophagocytic Lymphohistiocytosis				23	33					0	0	1	0	0	T	144508016	C	T	144508016	2	4	418	1	0	0	0	0	0	0	0	1	15393	755	27	1		1	STX11	6	144508016	Silent	SNP	C	TCGA-S9-A6U2-01A-21D-A33T-08	99434333	144508016	26607051	13	34183											
SUN3	256979	broad.mit.edu	37	7	48034064	48034064	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6U2-01A-21D-A33T-08	TCGA-S9-A6U2-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ecbe036-e918-43d5-8ed5-27fb6e2f56fa	f132b367-6bb5-4f3a-bf26-03d87381fa65	g.chr7:48034064C>T	ENST00000453192.2	-	9	916	c.673G>A	c.(673-675)Gga>Aga	p.G225R	SUN3_ENST00000297325.4_Missense_Mutation_p.G237R|SUN3_ENST00000473723.1_5'UTR|SUN3_ENST00000395572.2_Missense_Mutation_p.G237R|SUN3_ENST00000412142.1_Missense_Mutation_p.G137R	NM_001284350.1	NP_001271279.1	Q8TAQ9	SUN3_HUMAN	Sad1 and UNC84 domain containing 3	237	SUN.					integral to membrane				central_nervous_system(1)|endometrium(3)|large_intestine(8)|liver(1)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CAGCACTTTCCAGGGTAGACA	0.438													19	201					0	0	1	0	0	T	48034064	C	T	48034064	3	4	418	1	0	0	0	0	1	0	0	0	15449	603	21	2	376	2	SUN3	7	48034064	Missense_Mutation	SNP	C	TCGA-S9-A6U2-01A-21D-A33T-08		48034064	111104599	14	34184											
ZAN	7455	broad.mit.edu	37	7	100384030	100384033	+	RNA	DEL	TTGT	TTGT	-	rs71973809		TCGA-S9-A6U2-01A-21D-A33T-08	TCGA-S9-A6U2-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ecbe036-e918-43d5-8ed5-27fb6e2f56fa	f132b367-6bb5-4f3a-bf26-03d87381fa65	g.chr7:100384030_100384033delTTGT	ENST00000542585.1	+	0	7124				ZAN_ENST00000349350.6_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000421100.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			ttttcttttcttgtttgtttgttt	0.505													4	7	---	---	---	---						-	100384033	TTGT	-	100384030	6	5	418	0	1	1	0	1	0	0	0	0	17573	1624	56	0		0	ZAN	7	100384030	RNA	DEL	TTGT	TCGA-S9-A6U2-01A-21D-A33T-08	52349966	100384030	58754633	15	34185											
ZNF800	168850	broad.mit.edu	37	7	127013897	127013897	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A6U2-01A-21D-A33T-08	TCGA-S9-A6U2-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ecbe036-e918-43d5-8ed5-27fb6e2f56fa	f132b367-6bb5-4f3a-bf26-03d87381fa65	g.chr7:127013897T>C	ENST00000393313.1	-	5	2084	c.1493A>G	c.(1492-1494)aAa>aGa	p.K498R	ZNF800_ENST00000393312.1_Missense_Mutation_p.K498R|ZNF800_ENST00000265827.3_Missense_Mutation_p.K498R			Q2TB10	ZN800_HUMAN	zinc finger protein 800	498					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(8)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	32						CAAGTTCTGTTTGGAAGTAAA	0.378													78	114					0	0	1	0	0	C	127013897	T	C	127013897	3	2	418	1	0	0	0	0	1	0	0	0	18218	1841	64	3	509	3	ZNF800	7	127013897	Missense_Mutation	SNP	T	TCGA-S9-A6U2-01A-21D-A33T-08	26629867	127013897	32124766	16	34186											
PCM1	5108	broad.mit.edu	37	8	17815110	17815110	+	Missense_Mutation	SNP	G	G	T			TCGA-S9-A6U2-01A-21D-A33T-08	TCGA-S9-A6U2-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ecbe036-e918-43d5-8ed5-27fb6e2f56fa	f132b367-6bb5-4f3a-bf26-03d87381fa65	g.chr8:17815110G>T	ENST00000325083.8	+	13	2305	c.1866G>T	c.(1864-1866)gaG>gaT	p.E622D	PCM1_ENST00000519253.1_Missense_Mutation_p.E622D|PCM1_ENST00000524226.1_Missense_Mutation_p.E623D	NM_006197.3	NP_006188	Q15154	PCM1_HUMAN	pericentriolar material 1	622					centrosome organization|cilium assembly|G2/M transition of mitotic cell cycle|interkinetic nuclear migration|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome	centriolar satellite|cytosol|nuclear membrane|pericentriolar material	identical protein binding	p.E622D(1)	PCM1/JAK2(30)	breast(4)|endometrium(8)|kidney(5)|large_intestine(16)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	48				Colorectal(111;0.0789)		aagatgatgaggaggaggagg	0.418			T	"RET, JAK2"	"papillary thyroid, CML, MPD"								3	22					0.115264	0.115264	1	1	0	T	17815110	G	T	17815110	3	4	418	1	0	0	0	0	1	0	0	0	11631	991	35	4	1908	4	PCM1	8	17815110	Missense_Mutation	SNP	G	TCGA-S9-A6U2-01A-21D-A33T-08		17815110	128548912	17	34187											
ZFPM2	23414	broad.mit.edu	37	8	106814286	106814286	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A6U2-01A-21D-A33T-08	TCGA-S9-A6U2-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ecbe036-e918-43d5-8ed5-27fb6e2f56fa	f132b367-6bb5-4f3a-bf26-03d87381fa65	g.chr8:106814286A>G	ENST00000407775.2	+	8	2226	c.1976A>G	c.(1975-1977)aAt>aGt	p.N659S	RP11-152P17.2_ENST00000520594.1_RNA|ZFPM2_ENST00000522296.1_3'UTR|ZFPM2_ENST00000520492.1_Missense_Mutation_p.N527S|RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000509144.2_RNA|ZFPM2_ENST00000378472.4_Missense_Mutation_p.N390S|RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000521622.1_RNA|RP11-152P17.2_ENST00000524045.2_RNA|ZFPM2_ENST00000517361.1_Missense_Mutation_p.N527S	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	659					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			TCCAGTAACAATGATGACAAA	0.423													24	38					0	0	1	0	0	G	106814286	A	G	106814286	3	3	418	1	0	0	0	0	1	0	0	0	17716	101	4	3	2006	3	ZFPM2	8	106814286	Missense_Mutation	SNP	A	TCGA-S9-A6U2-01A-21D-A33T-08	88999176	106814286	39549736	18	34188											
RAD21	5885	broad.mit.edu	37	8	117866545	117866545	+	Missense_Mutation	SNP	C	C	A			TCGA-S9-A6U2-01A-21D-A33T-08	TCGA-S9-A6U2-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ecbe036-e918-43d5-8ed5-27fb6e2f56fa	f132b367-6bb5-4f3a-bf26-03d87381fa65	g.chr8:117866545C>A	ENST00000297338.2	-	9	1387	c.1100G>T	c.(1099-1101)gGa>gTa	p.G367V		NM_006265.2	NP_006256.1	O60216	RAD21_HUMAN	RAD21 homolog (S. pombe)	367	Interaction with STAG1.|Interaction with WAPAL and PDS5B.				apoptosis|cell division|chromosome segregation|double-strand break repair|mitotic metaphase/anaphase transition|mitotic prometaphase|protein localization to chromatin|reciprocal meiotic recombination|regulation of transcription from RNA polymerase II promoter	chromosome, centromeric region|cohesin complex|nuclear chromosome|nucleoplasm	protein binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|stomach(1)	32	all_cancers(13;1.21e-21)|Lung NSC(37;0.000134)|Ovarian(258;0.0172)					TTCTACTCCTCCTGTCTCTTT	0.368													82	111					1.75807e-36	1.96249e-36	1	1	0	A	117866545	C	A	117866545	3	1	418	1	0	0	0	0	1	0	0	0	13033	855	30	5	819	5	RAD21	8	117866545	Missense_Mutation	SNP	C	TCGA-S9-A6U2-01A-21D-A33T-08	11052259	117866545	28497477	19	34189											
FER1L6	654463	broad.mit.edu	37	8	125078688	125078688	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6U2-01A-21D-A33T-08	TCGA-S9-A6U2-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ecbe036-e918-43d5-8ed5-27fb6e2f56fa	f132b367-6bb5-4f3a-bf26-03d87381fa65	g.chr8:125078688G>A	ENST00000522917.1	+	27	3781	c.3575G>A	c.(3574-3576)cGg>cAg	p.R1192Q	FER1L6-AS2_ENST00000520031.1_RNA|FER1L6_ENST00000399018.1_Missense_Mutation_p.R1192Q	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	1192						integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			AAGCCTTCCCGGAGGTCCACT	0.493													176	261					0	0	1	0	0	A	125078688	G	A	125078688	3	1	418	1	0	0	0	0	1	0	0	0	5848	1116	39	1	3677	1	FER1L6	8	125078688	Missense_Mutation	SNP	G	TCGA-S9-A6U2-01A-21D-A33T-08	7212143	125078688	21285334	20	34190											
OR5J2	282775	broad.mit.edu	37	11	55944704	55944704	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6U2-01A-21D-A33T-08	TCGA-S9-A6U2-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ecbe036-e918-43d5-8ed5-27fb6e2f56fa	f132b367-6bb5-4f3a-bf26-03d87381fa65	g.chr11:55944704G>A	ENST00000312298.1	+	1	611	c.611G>A	c.(610-612)gGa>gAa	p.G204E		NM_001005492.1	NP_001005492.1	Q8NH18	OR5J2_HUMAN	olfactory receptor, family 5, subfamily J, member 2	204					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	44	Esophageal squamous(21;0.00693)					ACCTTCTCCGGAGTCATTGCC	0.468													16	237					0	0	1	0	0	A	55944704	G	A	55944704	3	1	418	1	0	0	0	0	1	0	0	0	11212	1174	41	2	613	2	OR5J2	11	55944704	Missense_Mutation	SNP	G	TCGA-S9-A6U2-01A-21D-A33T-08		55944704	79061812	21	34191											
CHRM1	1128	broad.mit.edu	37	11	62677783	62677783	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6U2-01A-21D-A33T-08	TCGA-S9-A6U2-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ecbe036-e918-43d5-8ed5-27fb6e2f56fa	f132b367-6bb5-4f3a-bf26-03d87381fa65	g.chr11:62677783G>A	ENST00000306960.3	-	2	1331	c.790C>T	c.(790-792)Cgg>Tgg	p.R264W	AP000438.2_ENST00000543624.1_RNA	NM_000738.2	NP_000729.2	P11229	ACM1_HUMAN	cholinergic receptor, muscarinic 1	264					activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell proliferation|nervous system development|positive regulation of cell proliferation|protein modification process	cell junction|integral to plasma membrane|membrane fraction|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity|protein binding			large_intestine(5)|lung(3)|stomach(1)	9					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Benztropine(DB00245)|Bethanechol(DB01019)|Biperiden(DB00810)|Buclizine(DB00354)|Carbachol(DB00411)|Carbinoxamine(DB00748)|Cevimeline(DB00185)|Clidinium(DB00771)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Cyclopentolate(DB00979)|Cycrimine(DB00942)|Desipramine(DB01151)|Dicyclomine(DB00804)|Diphenidol(DB01231)|Doxylamine(DB00366)|Ethopropazine(DB00392)|Flavoxate(DB01148)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methantheline(DB00940)|Methotrimeprazine(DB01403)|Methylscopolamine(DB00462)|Metixene(DB00340)|Metoclopramide(DB01233)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Oxyphenonium(DB00219)|Pilocarpine(DB01085)|Pirenzepine(DB00670)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propantheline(DB00782)|Propiomazine(DB00777)|Quinacrine(DB01103)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)|Trihexyphenidyl(DB00376)|Trospium(DB00209)	CTGGGGGCCCGGCAGCAGCGA	0.657													9	183					0	0	1	0	0	A	62677783	G	A	62677783	3	1	418	1	0	0	0	0	1	0	0	0	3398	1115	39	1	596	1	CHRM1	11	62677783	Missense_Mutation	SNP	G	TCGA-S9-A6U2-01A-21D-A33T-08	6733079	62677783	72328733	22	34192											
POLA2	23649	broad.mit.edu	37	11	65055248	65055248	+	Silent	SNP	G	G	A			TCGA-S9-A6U2-01A-21D-A33T-08	TCGA-S9-A6U2-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ecbe036-e918-43d5-8ed5-27fb6e2f56fa	f132b367-6bb5-4f3a-bf26-03d87381fa65	g.chr11:65055248G>A	ENST00000265465.3	+	11	1599	c.1068G>A	c.(1066-1068)acG>acA	p.T356T	POLA2_ENST00000541089.1_Silent_p.T148T	NM_002689.2	NP_002680.2	Q14181	DPOA2_HUMAN	polymerase (DNA directed), alpha 2, accessory subunit	356					DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	nucleoplasm	DNA binding			endometrium(1)|large_intestine(2)|lung(7)|urinary_tract(1)	11					Dacarbazine(DB00851)	ACAGCATCACGTATGACCCCC	0.507													55	69					0	0	1	0	0	A	65055248	G	A	65055248	2	1	418	1	0	0	0	0	0	0	0	1	12236	1132	40	1		1	POLA2	11	65055248	Silent	SNP	G	TCGA-S9-A6U2-01A-21D-A33T-08	2377465	65055248	69951268	23	34193											
KRT6B	3854	broad.mit.edu	37	12	52843396	52843396	+	Missense_Mutation	SNP	G	G	A	rs142625176	by1000genomes	TCGA-S9-A6U2-01A-21D-A33T-08	TCGA-S9-A6U2-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ecbe036-e918-43d5-8ed5-27fb6e2f56fa	f132b367-6bb5-4f3a-bf26-03d87381fa65	g.chr12:52843396G>A	ENST00000252252.3	-	5	981	c.934C>T	c.(934-936)Cac>Tac	p.H312Y		NM_005555.3	NP_005546.2	P04259	K2C6B_HUMAN	keratin 6B	312	Linker 12.|Rod.				ectoderm development	keratin filament	structural constituent of cytoskeleton	p.H312N(1)		NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(19)|ovary(4)|prostate(2)	40				BRCA - Breast invasive adenocarcinoma(357;0.083)		TCTGAGATGTGGGTCTGCATC	0.512													109	173					0	0	1	0	0	A	52843396	G	A	52843396	3	1	418	1	0	0	0	0	1	0	0	0	8524	1348	47	2	780	2	KRT6B	12	52843396	Missense_Mutation	SNP	G	TCGA-S9-A6U2-01A-21D-A33T-08		52843396	81008499	24	34194											
KIF26A	26153	broad.mit.edu	37	14	104643172	104643172	+	Silent	SNP	G	G	A			TCGA-S9-A6U2-01A-21D-A33T-08	TCGA-S9-A6U2-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ecbe036-e918-43d5-8ed5-27fb6e2f56fa	f132b367-6bb5-4f3a-bf26-03d87381fa65	g.chr14:104643172G>A	ENST00000315264.7	+	11	4008	c.3630G>A	c.(3628-3630)aaG>aaA	p.K1210K	KIF26A_ENST00000423312.2_Silent_p.K1349K			Q9ULI4	KI26A_HUMAN	kinesin family member 26A	1349					blood coagulation|enteric nervous system development|microtubule-based movement|negative regulation of signal transduction|regulation of cell growth by extracellular stimulus	cytosol|microtubule	ATP binding|microtubule binding|microtubule motor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)		TGGCTCCCAAGGCGGGCTTCC	0.736													4	7					0	0	1	0	0	A	104643172	G	A	104643172	2	1	418	1	0	0	0	0	0	0	0	1	8336	991	35	2		2	KIF26A	14	104643172	Silent	SNP	G	TCGA-S9-A6U2-01A-21D-A33T-08		104643172	2706368	25	34195											
TCF12	6938	broad.mit.edu	37	15	57565278	57565280	+	In_Frame_Del	DEL	AGA	AGA	-	rs78462051		TCGA-S9-A6U2-01A-21D-A33T-08	TCGA-S9-A6U2-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ecbe036-e918-43d5-8ed5-27fb6e2f56fa	f132b367-6bb5-4f3a-bf26-03d87381fa65	g.chr15:57565278_57565280delAGA	ENST00000267811.5	+	18	2028_2030	c.1724_1726delAGA	c.(1723-1728)gagaag>gag	p.K576del	TCF12_ENST00000333725.5_In_Frame_Del_p.K600del|TCF12_ENST00000557843.1_In_Frame_Del_p.K576del|TCF12_ENST00000452095.2_In_Frame_Del_p.K596del|TCF12_ENST00000559710.1_In_Frame_Del_p.K210del|TCF12_ENST00000537840.1_In_Frame_Del_p.K340del|TCF12_ENST00000559703.1_In_Frame_Del_p.K233del|TCF12_ENST00000438423.2_In_Frame_Del_p.K600del|TCF12_ENST00000343827.3_In_Frame_Del_p.K406del|TCF12_ENST00000543579.1_In_Frame_Del_p.K430del	NM_003205.3|NM_207038.1	NP_003196.1|NP_996921.1	Q99081	HTF4_HUMAN	transcription factor 12	576					immune response|muscle organ development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity		TCF12/NR4A3(2)	breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	36		Colorectal(260;0.0907)		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)		ATAGAAAGGGAGAAGGAGAGGCG	0.414			T	TEC	extraskeletal myxoid chondrosarcoma								14	35	---	---	---	---						-	57565280	AGA	-	57565278	7	5	418	1	0	1	0	1	0	0	0	0	15747	304	11	0	1939	0	TCF12	15	57565278	In_Frame_Del	DEL	AGA	TCGA-S9-A6U2-01A-21D-A33T-08		57565278	44966114	26	34196											
HCN4	10021	broad.mit.edu	37	15	73615044	73615064	+	In_Frame_Del	DEL	CCCACTGCCCCCGCTGCCACC	CCCACTGCCCCCGCTGCCACC	-			TCGA-S9-A6U2-01A-21D-A33T-08	TCGA-S9-A6U2-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ecbe036-e918-43d5-8ed5-27fb6e2f56fa	f132b367-6bb5-4f3a-bf26-03d87381fa65	g.chr15:73615044_73615064delCCCACTGCCCCCGCTGCCACC	ENST00000261917.3	-	8	4363_4383	c.3370_3390delGGTGGCAGCGGGGGCAGTGGG	c.(3370-3390)ggtggcagcgggggcagtgggdel	p.GGSGGSG1124del		NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 4	1124					blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		CCCCGCTGCTCCCACTGCCCCCGCTGCCACCCCCAGCCCTG	0.71													6	4	---	---	---	---						-	73615064	CCCACTGCCCCCGCTGCCACC	-	73615044	7	5	418	1	0	1	0	1	0	0	0	0	7040	842	30	0	225	0	HCN4	15	73615044	In_Frame_Del	DEL	CCCACTGCCCCCGCTGCCACC	TCGA-S9-A6U2-01A-21D-A33T-08	16049766	73615044	28916348	27	34197											
CDH3	1001	broad.mit.edu	37	16	68718504	68718504	+	Frame_Shift_Del	DEL	A	A	-			TCGA-S9-A6U2-01A-21D-A33T-08	TCGA-S9-A6U2-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ecbe036-e918-43d5-8ed5-27fb6e2f56fa	f132b367-6bb5-4f3a-bf26-03d87381fa65	g.chr16:68718504delA	ENST00000264012.4	+	10	1745	c.1201delA	c.(1201-1203)aaafs	p.K401fs	CDH3_ENST00000581171.1_Frame_Shift_Del_p.K346fs|CDH3_ENST00000429102.2_Frame_Shift_Del_p.K401fs	NM_001793.4	NP_001784.2	P22223	CADH3_HUMAN	cadherin 3, type 1, P-cadherin (placental)	401	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion|response to stimulus|visual perception	integral to membrane	calcium ion binding	p.?(2)		NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(3)|skin(1)|urinary_tract(1)	25		Ovarian(137;0.0564)		OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384)		TTTTGAGGCCAAAAACCAGCA	0.522													7	708	---	---	---	---						-	68718504	A	-	68718504	7	5	418	1	0	1	0	1	0	0	0	0	3133	131	5	0	1239	0	CDH3	16	68718504	Frame_Shift_Del	DEL	A	TCGA-S9-A6U2-01A-21D-A33T-08		68718504	21636249	28	34198											
ENGASE	64772	broad.mit.edu	37	17	77078145	77078145	+	Splice_Site	SNP	G	G	A			TCGA-S9-A6U2-01A-21D-A33T-08	TCGA-S9-A6U2-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ecbe036-e918-43d5-8ed5-27fb6e2f56fa	f132b367-6bb5-4f3a-bf26-03d87381fa65	g.chr17:77078145G>A	ENST00000579016.1	+	7	1038	c.1038G>A	c.(1036-1038)aaG>aaA	p.K346K	ENGASE_ENST00000584568.1_3'UTR|ENGASE_ENST00000539857.2_Silent_p.K160K	NM_001042573.2	NP_001036038.1	Q8NFI3	ENASE_HUMAN	endo-beta-N-acetylglucosaminidase	346	BRCT.					cytosol	mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity			breast(2)|endometrium(4)|large_intestine(1)|lung(15)|prostate(2)|skin(1)	25						ACACAGACAAGGTGGGTGGTG	0.627													65	98					0	0	1	0	0	A	77078145	G	A	77078145	5	1	418	1	0	0	0	0	0	0	1	0	5146	1014	35	2	1064	2	ENGASE	17	77078145	Splice_Site	SNP	G	TCGA-S9-A6U2-01A-21D-A33T-08		77078145	4117065	29	34199											
CIC	23152	broad.mit.edu	37	19	42791715	42791715	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6U2-01A-21D-A33T-08	TCGA-S9-A6U2-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ecbe036-e918-43d5-8ed5-27fb6e2f56fa	f132b367-6bb5-4f3a-bf26-03d87381fa65	g.chr19:42791715C>T	ENST00000572681.2	+	6	3396	c.3328C>T	c.(3328-3330)Cgg>Tgg	p.R1110W	CIC_ENST00000575354.2_Missense_Mutation_p.R201W|CIC_ENST00000160740.3_Missense_Mutation_p.R201W			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	201	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	p.R201W(1)		autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				GGACCACATCCGGCGGCCCAT	0.622			"Mis, F, S"		oligodendroglioma								64	45					0	0	1	0	0	T	42791715	C	T	42791715	3	4	418	1	0	0	0	0	1	0	0	0	3446	643	23	1	619	1	CIC	19	42791715	Missense_Mutation	SNP	C	TCGA-S9-A6U2-01A-21D-A33T-08		42791715	16337268	30	34200											
BCR	613	broad.mit.edu	37	22	23656796	23656796	+	Silent	SNP	T	T	C			TCGA-S9-A6U2-01A-21D-A33T-08	TCGA-S9-A6U2-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ecbe036-e918-43d5-8ed5-27fb6e2f56fa	f132b367-6bb5-4f3a-bf26-03d87381fa65	g.chr22:23656796T>C	ENST00000305877.8	+	22	4372	c.3621T>C	c.(3619-3621)ttT>ttC	p.F1207F	BCR_ENST00000359540.3_Silent_p.F1163F|BCR_ENST00000436990.2_3'UTR	NM_004327.3	NP_004318.3	P11274	BCR_HUMAN	breakpoint cluster region	1207	Rho-GAP.				regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	ATP binding|GTPase activator activity|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity		BCR/JAK2(6)	central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	35						CCACGGTCTTTGGCCCCACGC	0.607			T	"ABL1,  FGFR1, JAK2 "	"CML, ALL, AML"								26	47					0	0	1	0	0	C	23656796	T	C	23656796	2	2	418	1	0	0	0	0	0	0	0	1	1386	1809	63	3		3	BCR	22	23656796	Silent	SNP	T	TCGA-S9-A6U2-01A-21D-A33T-08		23656796	27647770	31	34201											
ARHGEF9	23229	broad.mit.edu	37	X	62857999	62857999	+	Missense_Mutation	SNP	G	G	T			TCGA-S9-A6U2-01A-21D-A33T-08	TCGA-S9-A6U2-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ecbe036-e918-43d5-8ed5-27fb6e2f56fa	f132b367-6bb5-4f3a-bf26-03d87381fa65	g.chrX:62857999G>T	ENST00000253401.6	-	10	2260	c.1460C>A	c.(1459-1461)gCt>gAt	p.A487D	ARHGEF9_ENST00000433323.2_Missense_Mutation_p.A214D|ARHGEF9_ENST00000437457.2_Missense_Mutation_p.A434D|ARHGEF9_ENST00000374870.4_Missense_Mutation_p.A385D|ARHGEF9_ENST00000374872.1_Missense_Mutation_p.A466D|ARHGEF9_ENST00000374878.1_Intron|ARHGEF9_ENST00000495564.1_5'UTR	NM_015185.2	NP_056000.1	O43307	ARHG9_HUMAN	Cdc42 guanine nucleotide exchange factor (GEF) 9	487					apoptosis|induction of apoptosis by extracellular signals|ion transmembrane transport|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol	Rho guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|skin(1)	35						CTGCGACTGAGCGATGCCGTC	0.552													12	37					0.000151284	0.00016137	1	1	0	T	62857999	G	T	62857999	3	4	418	1	0	0	0	0	1	0	0	0	909	971	34	4	94	4	ARHGEF9	23	62857999	Missense_Mutation	SNP	G	TCGA-S9-A6U2-01A-21D-A33T-08		62857999	92412561	32	34202											
MARCKSL1	65108	broad.mit.edu	37	1	32800637	32800637	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6U5-01A-12D-A33T-08	TCGA-S9-A6U5-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6638014a-2392-40ed-b0e1-0d44f1df57ba	85191ce5-9e6c-45f6-82d9-5df7f9a7eeb5	g.chr1:32800637G>A	ENST00000329421.7	-	2	494	c.149C>T	c.(148-150)cCt>cTt	p.P50L		NM_023009.6	NP_075385.1	P49006	MRP_HUMAN	MARCKS-like 1	50						plasma membrane	calmodulin binding			breast(1)|large_intestine(3)|lung(1)|ovary(1)	6		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				TCCGTTCACAGGGGGCGACTC	0.642													78	31					0	0	1	0	0	A	32800637	G	A	32800637	3	1	419	1	0	0	0	0	1	0	0	0	9360	1000	35	2	442	2	MARCKSL1	1	32800637	Missense_Mutation	SNP	G	TCGA-S9-A6U5-01A-12D-A33T-08		32800637	216449984	1	34203											
FRRS1	391059	broad.mit.edu	37	1	100194159	100194159	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6U5-01A-12D-A33T-08	TCGA-S9-A6U5-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6638014a-2392-40ed-b0e1-0d44f1df57ba	85191ce5-9e6c-45f6-82d9-5df7f9a7eeb5	g.chr1:100194159C>T	ENST00000414213.1	-	9	1497	c.896G>A	c.(895-897)gGt>gAt	p.G299D	FRRS1_ENST00000287474.5_Missense_Mutation_p.G299D			Q6ZNA5	FRRS1_HUMAN	ferric-chelate reductase 1	299	DOMON.				electron transport chain|transport	integral to membrane	ferric-chelate reductase activity|metal ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(12)|pancreas(1)|skin(1)|urinary_tract(1)	26		all_epithelial(167;2.09e-06)|all_lung(203;0.000435)|Lung NSC(277;0.00201)		Epithelial(280;0.0718)|all cancers(265;0.126)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.206)		CTGCATAACACCGTCCGCCAA	0.393													58	35					0	0	1	0	0	T	100194159	C	T	100194159	3	4	419	1	0	0	0	0	1	0	0	0	6095	507	18	2	1020	2	FRRS1	1	100194159	Missense_Mutation	SNP	C	TCGA-S9-A6U5-01A-12D-A33T-08	67393522	100194159	149056462	2	34204											
GSTM2	2946	broad.mit.edu	37	1	110210764	110210764	+	Silent	SNP	C	C	T			TCGA-S9-A6U5-01A-12D-A33T-08	TCGA-S9-A6U5-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6638014a-2392-40ed-b0e1-0d44f1df57ba	85191ce5-9e6c-45f6-82d9-5df7f9a7eeb5	g.chr1:110210764C>T	ENST00000369831.2	+	1	121	c.27C>T	c.(25-27)aaC>aaT	p.N9N	GSTM2_ENST00000460717.3_Silent_p.N9N|GSTM2_ENST00000369829.2_Silent_p.N9N|GSTM2_ENST00000241337.4_Silent_p.N9N|GSTM2_ENST00000414179.2_5'UTR|GSTM2_ENST00000442650.1_Silent_p.N9N|GSTM2_ENST00000369827.3_Silent_p.N7N|GSTM2_ENST00000464206.1_3'UTR					glutathione S-transferase mu 2 (muscle)											kidney(1)|large_intestine(2)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)	11		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		all cancers(265;0.0122)|Colorectal(144;0.0129)|Epithelial(280;0.0146)|Lung(183;0.0422)|COAD - Colon adenocarcinoma(174;0.047)|LUSC - Lung squamous cell carcinoma(189;0.227)		GGTACTGGAACATCCGCGGGG	0.677													29	29					0	0	1	0	0	T	110210764	C	T	110210764	2	4	419	1	0	0	0	0	0	0	0	1	6879	477	17	2		2	GSTM2	1	110210764	Silent	SNP	C	TCGA-S9-A6U5-01A-12D-A33T-08	10016605	110210764	139039857	3	34205											
ADCY10	55811	broad.mit.edu	37	1	167849749	167849749	+	Silent	SNP	G	G	A			TCGA-S9-A6U5-01A-12D-A33T-08	TCGA-S9-A6U5-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6638014a-2392-40ed-b0e1-0d44f1df57ba	85191ce5-9e6c-45f6-82d9-5df7f9a7eeb5	g.chr1:167849749G>A	ENST00000367848.1	-	10	1340	c.843C>T	c.(841-843)tgC>tgT	p.C281C	ADCY10_ENST00000367851.4_Silent_p.C373C|ADCY10_ENST00000545172.1_Silent_p.C220C			Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	373					intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						GGACTTGAGAGCAGAAGTCAA	0.517													9	126					0	0	1	0	0	A	167849749	G	A	167849749	2	1	419	1	0	0	0	0	0	0	0	1	292	963	34	2		2	ADCY10	1	167849749	Silent	SNP	G	TCGA-S9-A6U5-01A-12D-A33T-08	57638985	167849749	81400872	4	34206											
ASPM	259266	broad.mit.edu	37	1	197061121	197061121	+	Missense_Mutation	SNP	A	A	T			TCGA-S9-A6U5-01A-12D-A33T-08	TCGA-S9-A6U5-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6638014a-2392-40ed-b0e1-0d44f1df57ba	85191ce5-9e6c-45f6-82d9-5df7f9a7eeb5	g.chr1:197061121A>T	ENST00000367409.4	-	22	9616	c.9360T>A	c.(9358-9360)aaT>aaA	p.N3120K	ASPM_ENST00000294732.7_Missense_Mutation_p.N1535K|ASPM_ENST00000367408.1_Missense_Mutation_p.N785K	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	3120					mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						TTCTAACAGCATTCAGGTGAT	0.363													10	144					0	0	1	0	0	T	197061121	A	T	197061121	3	4	419	1	0	0	0	0	1	0	0	0	1055	214	8	4	1101	4	ASPM	1	197061121	Missense_Mutation	SNP	A	TCGA-S9-A6U5-01A-12D-A33T-08	29211372	197061121	52189500	5	34207											
NLRC4	58484	broad.mit.edu	37	2	32475056	32475056	+	Frame_Shift_Del	DEL	T	T	-			TCGA-S9-A6U5-01A-12D-A33T-08	TCGA-S9-A6U5-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6638014a-2392-40ed-b0e1-0d44f1df57ba	85191ce5-9e6c-45f6-82d9-5df7f9a7eeb5	g.chr2:32475056delT	ENST00000404025.2	-	5	2365	c.1877delA	c.(1876-1878)aagfs	p.K626fs	NLRC4_ENST00000360906.5_Frame_Shift_Del_p.K626fs|NLRC4_ENST00000402280.1_Frame_Shift_Del_p.K626fs|NLRC4_ENST00000342905.6_Intron			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	626					activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					TTCTGCAGCCTTTTCCCATGA	0.458													7	462	---	---	---	---						-	32475056	T	-	32475056	7	5	419	1	0	1	0	1	0	0	0	0	10516	1609	56	0	1221	0	NLRC4	2	32475056	Frame_Shift_Del	DEL	T	TCGA-S9-A6U5-01A-12D-A33T-08		32475056	210724317	6	34208											
ITGB6	3694	broad.mit.edu	37	2	160980358	160980358	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6U5-01A-12D-A33T-08	TCGA-S9-A6U5-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6638014a-2392-40ed-b0e1-0d44f1df57ba	85191ce5-9e6c-45f6-82d9-5df7f9a7eeb5	g.chr2:160980358C>T	ENST00000283249.2	-	12	2162	c.1925G>A	c.(1924-1926)cGa>cAa	p.R642Q	ITGB6_ENST00000428609.2_Missense_Mutation_p.R600Q|ITGB6_ENST00000409967.2_Intron|ITGB6_ENST00000409872.1_Missense_Mutation_p.R642Q	NM_001282353.1|NM_001282354.1|NM_001282388.1	NP_001269282.1|NP_001269283.1|NP_001269317.1	P18564	ITB6_HUMAN	integrin, beta 6	642					cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|multicellular organismal development	integrin complex	receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						ACATTCTTCTCGGGCTTGGCC	0.453													21	146					0	0	1	0	0	T	160980358	C	T	160980358	3	4	419	1	0	0	0	0	1	0	0	0	7943	884	31	1	457	1	ITGB6	2	160980358	Missense_Mutation	SNP	C	TCGA-S9-A6U5-01A-12D-A33T-08	128505302	160980358	82219015	7	34209											
PLCL1	5334	broad.mit.edu	37	2	198950470	198950470	+	Silent	SNP	G	G	A	rs142477843		TCGA-S9-A6U5-01A-12D-A33T-08	TCGA-S9-A6U5-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6638014a-2392-40ed-b0e1-0d44f1df57ba	85191ce5-9e6c-45f6-82d9-5df7f9a7eeb5	g.chr2:198950470G>A	ENST00000428675.1	+	2	2627	c.2229G>A	c.(2227-2229)ggG>ggA	p.G743G	PLCL1_ENST00000437704.2_Silent_p.G645G	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	743	C2.				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	GTGCCAAAGGGGATGTCATAG	0.433													14	165					0	0	1	0	0	A	198950470	G	A	198950470	2	1	419	1	0	0	0	0	0	0	0	1	12087	1219	43	2		2	PLCL1	2	198950470	Silent	SNP	G	TCGA-S9-A6U5-01A-12D-A33T-08	37970112	198950470	44248903	8	34210											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-S9-A6U5-01A-12D-A33T-08	TCGA-S9-A6U5-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6638014a-2392-40ed-b0e1-0d44f1df57ba	85191ce5-9e6c-45f6-82d9-5df7f9a7eeb5	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								56	100					0	0	1	0	0	T	209113112	C	T	209113112	3	4	419	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-S9-A6U5-01A-12D-A33T-08	10162642	209113112	34086261	9	34211											
AMT	275	broad.mit.edu	37	3	49459637	49459637	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6U5-01A-12D-A33T-08	TCGA-S9-A6U5-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6638014a-2392-40ed-b0e1-0d44f1df57ba	85191ce5-9e6c-45f6-82d9-5df7f9a7eeb5	g.chr3:49459637G>A	ENST00000273588.3	-	2	460	c.158C>T	c.(157-159)gCg>gTg	p.A53V	AMT_ENST00000395338.2_Missense_Mutation_p.A53V|AMT_ENST00000546031.1_Intron|AMT_ENST00000538581.1_Intron|AMT_ENST00000458307.2_Missense_Mutation_p.A53V|AMT_ENST00000476226.1_5'UTR	NM_000481.3	NP_000472.2	P48728	GCST_HUMAN	aminomethyltransferase	53					glycine catabolic process	mitochondrion	aminomethyltransferase activity|transaminase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	NADH(DB00157)|Tetrahydrofolic acid(DB00116)	ACTCCAACCCGCAAACGCCAC	0.627													5	302					0	0	1	0	0	A	49459637	G	A	49459637	3	1	419	1	0	0	0	0	1	0	0	0	585	1087	38	1	1113	1	AMT	3	49459637	Missense_Mutation	SNP	G	TCGA-S9-A6U5-01A-12D-A33T-08		49459637	148562793	10	34212											
MUC4	4585	broad.mit.edu	37	3	195512148	195512148	+	Missense_Mutation	SNP	G	G	C			TCGA-S9-A6U5-01A-12D-A33T-08	TCGA-S9-A6U5-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6638014a-2392-40ed-b0e1-0d44f1df57ba	85191ce5-9e6c-45f6-82d9-5df7f9a7eeb5	g.chr3:195512148G>C	ENST00000463781.3	-	2	6762	c.6303C>G	c.(6301-6303)gaC>gaG	p.D2101E	MUC4_ENST00000475231.1_Missense_Mutation_p.D2101E|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	874	EGF-like 2.				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		CTGAGGAAGCGTCGGTGACAA	0.567													3	12					0	0	1	0	0	C	195512148	G	C	195512148	3	2	419	1	0	0	0	0	1	0	0	0	10026	1136	40	5		5	MUC4	3	195512148	Missense_Mutation	SNP	G	TCGA-S9-A6U5-01A-12D-A33T-08	146052511	195512148	2510282	11	34213											
PHOX2B	8929	broad.mit.edu	37	4	41750611	41750611	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A6U5-01A-12D-A33T-08	TCGA-S9-A6U5-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6638014a-2392-40ed-b0e1-0d44f1df57ba	85191ce5-9e6c-45f6-82d9-5df7f9a7eeb5	g.chr4:41750611T>C	ENST00000226382.2	-	1	376	c.17A>G	c.(16-18)tAt>tGt	p.Y6C	RP11-227F19.1_ENST00000508038.1_RNA	NM_003924.3	NP_003915.2	Q99453	PHX2B_HUMAN	paired-like homeobox 2b	6					positive regulation of transcription from RNA polymerase II promoter	nuclear chromatin	RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			autonomic_ganglia(7)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	30						GAGGTAAGAATATTCCATTTT	0.483			"Mis, F"		neuroblastoma	neuroblastoma	congenital central hypoventilation syndrome		Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				9	64					0	0	1	0	0	C	41750611	T	C	41750611	3	2	419	1	0	0	0	0	1	0	0	0	11907	1406	49	3	939	3	PHOX2B	4	41750611	Missense_Mutation	SNP	T	TCGA-S9-A6U5-01A-12D-A33T-08		41750611	149403665	12	34214											
SPP1	6696	broad.mit.edu	37	4	88898248	88898248	+	Splice_Site	SNP	A	A	T			TCGA-S9-A6U5-01A-12D-A33T-08	TCGA-S9-A6U5-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6638014a-2392-40ed-b0e1-0d44f1df57ba	85191ce5-9e6c-45f6-82d9-5df7f9a7eeb5	g.chr4:88898248A>T	ENST00000237623.7	+	3	240	c.92A>T	c.(91-93)cAg>cTg	p.Q31L	SPP1_ENST00000360804.4_Splice_Site_p.Q31L|SPP1_ENST00000509659.1_3'UTR|SPP1_ENST00000395080.3_Splice_Site_p.Q31L	NM_000582.2	NP_000573.1	P10451	OSTP_HUMAN	secreted phosphoprotein 1	31					biomineral tissue development|cell adhesion|decidualization|embryo implantation|ossification|response to vitamin D	extracellular space	cytokine activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(3)|skin(1)	13		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-05)		GAGGAAAAGCAGGTAAGCATC	0.358													54	104					0	0	1	0	0	T	88898248	A	T	88898248	5	4	419	1	0	0	0	0	0	0	1	0	15142	202	7	5	98	5	SPP1	4	88898248	Splice_Site	SNP	A	TCGA-S9-A6U5-01A-12D-A33T-08	47147637	88898248	102256028	13	34215											
PDGFC	56034	broad.mit.edu	37	4	157771503	157771503	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A6U5-01A-12D-A33T-08	TCGA-S9-A6U5-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6638014a-2392-40ed-b0e1-0d44f1df57ba	85191ce5-9e6c-45f6-82d9-5df7f9a7eeb5	g.chr4:157771503T>C	ENST00000502773.1	-	2	674	c.184A>G	c.(184-186)Agg>Ggg	p.R62G	PDGFC_ENST00000422544.2_Missense_Mutation_p.R62G|PDGFC_ENST00000541126.1_Intron	NM_016205.2	NP_057289.1	Q9NRA1	PDGFC_HUMAN	platelet derived growth factor C	62	CUB.				central nervous system development|platelet-derived growth factor receptor signaling pathway|positive regulation of cell division|positive regulation of DNA replication|positive regulation of fibroblast proliferation|vascular endothelial growth factor receptor signaling pathway	endoplasmic reticulum lumen|extracellular space|Golgi membrane|nucleus	cell surface binding|growth factor activity|platelet-derived growth factor receptor binding|protein homodimerization activity			central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.08)|Kidney(143;0.0977)|COAD - Colon adenocarcinoma(41;0.212)		TGAGGAAACCTTGGGCTGTGA	0.358													49	57					0	0	1	0	0	C	157771503	T	C	157771503	3	2	419	1	0	0	0	0	1	0	0	0	11706	1608	56	3	873	3	PDGFC	4	157771503	Missense_Mutation	SNP	T	TCGA-S9-A6U5-01A-12D-A33T-08	68873255	157771503	33382773	14	34216											
MFAP3L	9848	broad.mit.edu	37	4	170926744	170926746	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-S9-A6U5-01A-12D-A33T-08	TCGA-S9-A6U5-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6638014a-2392-40ed-b0e1-0d44f1df57ba	85191ce5-9e6c-45f6-82d9-5df7f9a7eeb5	g.chr4:170926744_170926746delCTT	ENST00000361618.3	-	2	590_592	c.283_285delAAG	c.(283-285)aagdel	p.K95del	MFAP3L_ENST00000506110.1_In_Frame_Del_p.K95del|MFAP3L_ENST00000393702.3_In_Frame_Del_p.K95del	NM_021647.6	NP_067679.6	O75121	MFA3L_HUMAN	microfibrillar-associated protein 3-like	95	Ig-like C2-type.					integral to membrane|plasma membrane				cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		Prostate(90;0.00601)|Renal(120;0.0183)|all_neural(102;0.122)|Melanoma(52;0.17)		GBM - Glioblastoma multiforme(119;0.0201)|LUSC - Lung squamous cell carcinoma(193;0.116)		CTCCTCTCTCCTTCTCATCCTCT	0.424													22	416	---	---	---	---						-	170926746	CTT	-	170926744	7	5	419	1	0	1	0	1	0	0	0	0	9566	680	24	0	952	0	MFAP3L	4	170926744	In_Frame_Del	DEL	CTT	TCGA-S9-A6U5-01A-12D-A33T-08	13155241	170926744	20227532	15	34217											
BDP1	55814	broad.mit.edu	37	5	70819927	70819927	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6U5-01A-12D-A33T-08	TCGA-S9-A6U5-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6638014a-2392-40ed-b0e1-0d44f1df57ba	85191ce5-9e6c-45f6-82d9-5df7f9a7eeb5	g.chr5:70819927G>A	ENST00000358731.4	+	25	5812	c.5549G>A	c.(5548-5550)cGg>cAg	p.R1850Q	BDP1_ENST00000380675.2_5'UTR	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	1850					regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		AAACGAGTTCGGGGTAAGACC	0.453													4	163					0	0	1	0	0	A	70819927	G	A	70819927	3	1	419	1	0	0	0	0	1	0	0	0	1393	1116	39	1	5647	1	BDP1	5	70819927	Missense_Mutation	SNP	G	TCGA-S9-A6U5-01A-12D-A33T-08		70819927	110095333	16	34218											
CHMP7	91782	broad.mit.edu	37	8	23117744	23117744	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6U5-01A-12D-A33T-08	TCGA-S9-A6U5-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6638014a-2392-40ed-b0e1-0d44f1df57ba	85191ce5-9e6c-45f6-82d9-5df7f9a7eeb5	g.chr8:23117744G>A	ENST00000397677.1	+	10	1856	c.1208G>A	c.(1207-1209)cGc>cAc	p.R403H	CHMP7_ENST00000520102.1_3'UTR|CHMP7_ENST00000313219.7_Missense_Mutation_p.R403H	NM_152272.3	NP_689485.1	Q8WUX9	CHMP7_HUMAN	charged multivesicular body protein 7	403					cellular membrane organization|late endosome to vacuole transport	cytosol|ESCRT III complex	protein transporter activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11		Prostate(55;0.0513)		Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632)		GACAACCCCCGCAATAGGCAT	0.463													4	207					0	0	1	0	0	A	23117744	G	A	23117744	3	1	419	1	0	0	0	0	1	0	0	0	3383	1087	38	1	1242	1	CHMP7	8	23117744	Missense_Mutation	SNP	G	TCGA-S9-A6U5-01A-12D-A33T-08		23117744	123246278	17	34219											
SCRT1	83482	broad.mit.edu	37	8	145556985	145556985	+	Silent	SNP	G	G	A			TCGA-S9-A6U5-01A-12D-A33T-08	TCGA-S9-A6U5-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6638014a-2392-40ed-b0e1-0d44f1df57ba	85191ce5-9e6c-45f6-82d9-5df7f9a7eeb5	g.chr8:145556985G>A	ENST00000332135.4	-	2	1020	c.909C>T	c.(907-909)caC>caT	p.H303H		NM_031309.4	NP_112599.2	Q9BWW7	SCRT1_HUMAN	scratch family zinc finger 1	303						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|upper_aerodigestive_tract(1)	3	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;3.94e-40)|Epithelial(56;1.35e-39)|all cancers(56;1.37e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)			TGCACTGGAAGTGCTTGAAGG	0.652													12	24					0	0	1	0	0	A	145556985	G	A	145556985	2	1	419	1	0	0	0	0	0	0	0	1	13995	1020	36	2		2	SCRT1	8	145556985	Silent	SNP	G	TCGA-S9-A6U5-01A-12D-A33T-08	122439241	145556985	807037	18	34220											
NOTCH1	4851	broad.mit.edu	37	9	139413070	139413072	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-S9-A6U5-01A-12D-A33T-08	TCGA-S9-A6U5-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6638014a-2392-40ed-b0e1-0d44f1df57ba	85191ce5-9e6c-45f6-82d9-5df7f9a7eeb5	g.chr9:139413070_139413072delAGA	ENST00000277541.6	-	6	1145_1147	c.1070_1072delTCT	c.(1069-1074)ttctac>tac	p.F357del		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	357	EGF-like 9; calcium-binding (Potential).				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	p.F357delF(4)		breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CACTCGCAGTAGAAGGAGGCCAC	0.655			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			10	32	---	---	---	---						-	139413072	AGA	-	139413070	7	5	419	1	0	1	0	1	0	0	0	0	10594	420	15	0	6711	0	NOTCH1	9	139413070	In_Frame_Del	DEL	AGA	TCGA-S9-A6U5-01A-12D-A33T-08		139413070	1800361	19	34221											
USP54	159195	broad.mit.edu	37	10	75331188	75331188	+	Silent	SNP	G	G	A			TCGA-S9-A6U5-01A-12D-A33T-08	TCGA-S9-A6U5-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6638014a-2392-40ed-b0e1-0d44f1df57ba	85191ce5-9e6c-45f6-82d9-5df7f9a7eeb5	g.chr10:75331188G>A	ENST00000339859.4	-	3	331	c.231C>T	c.(229-231)tgC>tgT	p.C77C	USP54_ENST00000394811.2_5'UTR|USP54_ENST00000319786.7_Silent_p.C77C|USP54_ENST00000428547.1_Silent_p.C77C|USP54_ENST00000408019.1_Silent_p.C77C			Q70EL1	UBP54_HUMAN	ubiquitin specific peptidase 54	77					ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity			breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	30	Prostate(51;0.0112)					CCTTGAGAGCGCAAAAGATGC	0.433													4	147					0	0	1	0	0	A	75331188	G	A	75331188	2	1	419	1	0	0	0	0	0	0	0	1	17145	1079	38	1		1	USP54	10	75331188	Silent	SNP	G	TCGA-S9-A6U5-01A-12D-A33T-08		75331188	60203559	20	34222											
KCNIP2	30819	broad.mit.edu	37	10	103589642	103589642	+	Frame_Shift_Del	DEL	G	G	-			TCGA-S9-A6U5-01A-12D-A33T-08	TCGA-S9-A6U5-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6638014a-2392-40ed-b0e1-0d44f1df57ba	85191ce5-9e6c-45f6-82d9-5df7f9a7eeb5	g.chr10:103589642delG	ENST00000356640.2	-	3	457	c.182delC	c.(181-183)ccafs	p.P61fs	KCNIP2_ENST00000353068.3_Intron|KCNIP2_ENST00000355657.2_5'UTR|KCNIP2_ENST00000358038.3_Intron|KCNIP2_ENST00000343195.4_Intron|KCNIP2_ENST00000370046.1_Intron|KCNIP2_ENST00000461105.1_Frame_Shift_Del_p.P76fs|KCNIP2_ENST00000348850.5_Intron	NM_014591.4|NM_173191.2	NP_055406.2|NP_775283.1	Q9NS61	KCIP2_HUMAN	Kv channel interacting protein 2	61					clustering of voltage-gated potassium channels|detection of calcium ion|muscle contraction|regulation of heart contraction|signal transduction|synaptic transmission	cytoplasm|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|calcium ion binding|ER retention sequence binding|identical protein binding|protein N-terminus binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	11		Colorectal(252;0.122)		Epithelial(162;4.93e-09)|all cancers(201;2.63e-07)		GAGGGAGGCTGGGGCGGCTAA	0.667													2	4	---	---	---	---						-	103589642	G	-	103589642	7	5	419	1	0	1	0	1	0	0	0	0	8084	1348	47	0	730	0	KCNIP2	10	103589642	Frame_Shift_Del	DEL	G	TCGA-S9-A6U5-01A-12D-A33T-08	28258454	103589642	31945105	21	34223											
NHLRC2	374354	broad.mit.edu	37	10	115664616	115664616	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6U5-01A-12D-A33T-08	TCGA-S9-A6U5-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6638014a-2392-40ed-b0e1-0d44f1df57ba	85191ce5-9e6c-45f6-82d9-5df7f9a7eeb5	g.chr10:115664616C>T	ENST00000369301.3	+	10	1957	c.1745C>T	c.(1744-1746)cCg>cTg	p.P582L		NM_198514.3	NP_940916.2	Q8NBF2	NHLC2_HUMAN	NHL repeat containing 2	582					cell redox homeostasis					breast(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	15				Epithelial(162;0.017)|all cancers(201;0.0187)		GTAGATGGCCCGTTCCTAGTA	0.408													29	82					0	0	1	0	0	T	115664616	C	T	115664616	3	4	419	1	0	0	0	0	1	0	0	0	10453	652	23	1	1783	1	NHLRC2	10	115664616	Missense_Mutation	SNP	C	TCGA-S9-A6U5-01A-12D-A33T-08	12074974	115664616	19870131	22	34224											
OPCML	4978	broad.mit.edu	37	11	132527130	132527130	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A6U5-01A-12D-A33T-08	TCGA-S9-A6U5-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6638014a-2392-40ed-b0e1-0d44f1df57ba	85191ce5-9e6c-45f6-82d9-5df7f9a7eeb5	g.chr11:132527130T>C	ENST00000331898.7	-	2	830	c.252A>G	c.(250-252)atA>atG	p.I84M	OPCML_ENST00000541867.1_Missense_Mutation_p.I84M|OPCML_ENST00000524381.1_Missense_Mutation_p.I77M|OPCML_ENST00000529038.1_5'UTR|OPCML_ENST00000374778.4_Missense_Mutation_p.I43M	NM_002545.3	NP_002536.1	Q14982	OPCM_HUMAN	opioid binding protein/cell adhesion molecule-like	84	Ig-like C2-type 1.				cell adhesion|neuron recognition	anchored to membrane|integral to plasma membrane	opioid receptor activity			endometrium(5)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|skin(2)|urinary_tract(8)	47	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)		CACGAGGGTCTATGGACCACT	0.542													23	166					0	0	1	0	0	C	132527130	T	C	132527130	3	2	419	1	0	0	0	0	1	0	0	0	10922	1512	53	3	809	3	OPCML	11	132527130	Missense_Mutation	SNP	T	TCGA-S9-A6U5-01A-12D-A33T-08		132527130	2479386	23	34225											
GNB3	2784	broad.mit.edu	37	12	6950780	6950780	+	Missense_Mutation	SNP	C	C	G			TCGA-S9-A6U5-01A-12D-A33T-08	TCGA-S9-A6U5-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6638014a-2392-40ed-b0e1-0d44f1df57ba	85191ce5-9e6c-45f6-82d9-5df7f9a7eeb5	g.chr12:6950780C>G	ENST00000229264.3	+	4	493	c.88C>G	c.(88-90)Ctg>Gtg	p.L30V	GNB3_ENST00000435982.2_Missense_Mutation_p.L30V	NM_002075.2	NP_002066.1	P16520	GBB3_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 3	30					cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of blood pressure|synaptic transmission	plasma membrane	GTPase activity|GTPase binding|signal transducer activity			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|stomach(1)	20						TGACGTTACTCTGGCAGAGGT	0.642													3	31					0	0	1	0	0	G	6950780	C	G	6950780	3	3	419	1	0	0	0	0	1	0	0	0	6561	912	32	4	94	4	GNB3	12	6950780	Missense_Mutation	SNP	C	TCGA-S9-A6U5-01A-12D-A33T-08		6950780	126901115	24	34226											
COL4A1	1282	broad.mit.edu	37	13	110895028	110895028	+	Silent	SNP	T	T	C			TCGA-S9-A6U5-01A-12D-A33T-08	TCGA-S9-A6U5-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6638014a-2392-40ed-b0e1-0d44f1df57ba	85191ce5-9e6c-45f6-82d9-5df7f9a7eeb5	g.chr13:110895028T>C	ENST00000375820.4	-	2	259	c.138A>G	c.(136-138)ggA>ggG	p.G46G	COL4A1_ENST00000543140.1_Silent_p.G46G	NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	46					angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			TCACCTTTTGTCCCTTCACTC	0.403													195	304					0	0	1	0	0	C	110895028	T	C	110895028	2	2	419	1	0	0	0	0	0	0	0	1	3712	1654	58	3		3	COL4A1	13	110895028	Silent	SNP	T	TCGA-S9-A6U5-01A-12D-A33T-08		110895028	4274850	25	34227											
SLC7A7	9056	broad.mit.edu	37	14	23242852	23242856	+	Frame_Shift_Del	DEL	CTCTC	CTCTC	-			TCGA-S9-A6U5-01A-12D-A33T-08	TCGA-S9-A6U5-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6638014a-2392-40ed-b0e1-0d44f1df57ba	85191ce5-9e6c-45f6-82d9-5df7f9a7eeb5	g.chr14:23242852_23242856delCTCTC	ENST00000397532.3	-	10	2024_2028	c.1499_1503delGAGAG	c.(1498-1503)ggagagfs	p.GE500fs	SLC7A7_ENST00000554517.1_Frame_Shift_Del_p.GE234fs|SLC7A7_ENST00000555702.1_Frame_Shift_Del_p.GE500fs|SLC7A7_ENST00000397528.4_Frame_Shift_Del_p.GE500fs|SLC7A7_ENST00000285850.7_Frame_Shift_Del_p.GE500fs|SLC7A7_ENST00000554061.1_5'UTR|SLC7A7_ENST00000397529.2_Frame_Shift_Del_p.GE500fs			Q9UM01	YLAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, y+L system), member 7	500					blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	basolateral plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2)	20	all_cancers(95;8.44e-05)			GBM - Glioblastoma multiforme(265;0.00741)		GCTTGGGCATCTCTCCTCCATCTTC	0.473													20	72	---	---	---	---						-	23242856	CTCTC	-	23242852	7	5	419	1	0	1	0	1	0	0	0	0	14758	912	32	0	36	0	SLC7A7	14	23242852	Frame_Shift_Del	DEL	CTCTC	TCGA-S9-A6U5-01A-12D-A33T-08		23242852	84106688	26	34228											
TMEM62	80021	broad.mit.edu	37	15	43473409	43473409	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6U5-01A-12D-A33T-08	TCGA-S9-A6U5-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6638014a-2392-40ed-b0e1-0d44f1df57ba	85191ce5-9e6c-45f6-82d9-5df7f9a7eeb5	g.chr15:43473409G>A	ENST00000260403.2	+	13	1796	c.1517G>A	c.(1516-1518)gGc>gAc	p.G506D	EPB42_ENST00000563128.1_Intron|TMEM62_ENST00000569369.1_3'UTR	NM_024956.3	NP_079232.3	Q0P6H9	TMM62_HUMAN	transmembrane protein 62	506						integral to membrane				breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18		all_cancers(109;1.16e-10)|all_epithelial(112;2.01e-09)|Lung NSC(122;8.91e-07)|all_lung(180;8.8e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;4.23e-07)		ATCATTGATGGCAAATTTGGT	0.338													5	367					0	0	1	0	0	A	43473409	G	A	43473409	3	1	419	1	0	0	0	0	1	0	0	0	16249	1203	42	2	1567	2	TMEM62	15	43473409	Missense_Mutation	SNP	G	TCGA-S9-A6U5-01A-12D-A33T-08		43473409	59057983	27	34229											
BCAR1	9564	broad.mit.edu	37	16	75276756	75276756	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6U5-01A-12D-A33T-08	TCGA-S9-A6U5-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6638014a-2392-40ed-b0e1-0d44f1df57ba	85191ce5-9e6c-45f6-82d9-5df7f9a7eeb5	g.chr16:75276756G>A	ENST00000546196.1	-	2	1810	c.158C>T	c.(157-159)cCg>cTg	p.P53L	BCAR1_ENST00000162330.5_Missense_Mutation_p.P82L|BCAR1_ENST00000535626.2_Intron|BCAR1_ENST00000538440.2_Missense_Mutation_p.P82L|BCAR1_ENST00000418647.3_Missense_Mutation_p.P128L|BCAR1_ENST00000420641.3_Missense_Mutation_p.P100L|BCAR1_ENST00000542031.2_Missense_Mutation_p.P80L|BCAR1_ENST00000393422.2_Missense_Mutation_p.P100L|BCAR1_ENST00000393420.6_Missense_Mutation_p.P82L			P56945	BCAR1_HUMAN	breast cancer anti-estrogen resistance 1	82	SH3.				actin filament organization|B cell receptor signaling pathway|blood coagulation|cell adhesion|cell division|cell migration|cell proliferation|epidermal growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|integrin-mediated signaling pathway|nerve growth factor receptor signaling pathway|platelet-derived growth factor receptor signaling pathway|positive regulation of cell migration|regulation of apoptosis|regulation of cell growth|T cell receptor signaling pathway	cytosol|focal adhesion|membrane fraction|ruffle	protein kinase binding|protein phosphatase binding|SH3 domain binding|signal transducer activity			breast(2)|central_nervous_system(5)|endometrium(1)|kidney(6)|large_intestine(1)|liver(1)|lung(13)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	35				BRCA - Breast invasive adenocarcinoma(221;0.169)		AGGCTGGGCCGGGGTGGCGGG	0.687													4	91					0	0	1	0	0	A	75276756	G	A	75276756	3	1	419	1	0	0	0	0	1	0	0	0	1346	1116	39	1	2452	1	BCAR1	16	75276756	Missense_Mutation	SNP	G	TCGA-S9-A6U5-01A-12D-A33T-08		75276756	15077997	28	34230											
MYO1C	4641	broad.mit.edu	37	17	1375272	1375272	+	Silent	SNP	C	C	T			TCGA-S9-A6U5-01A-12D-A33T-08	TCGA-S9-A6U5-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6638014a-2392-40ed-b0e1-0d44f1df57ba	85191ce5-9e6c-45f6-82d9-5df7f9a7eeb5	g.chr17:1375272C>T	ENST00000359786.5	-	19	2274	c.1950G>A	c.(1948-1950)ggG>ggA	p.G650G	MYO1C_ENST00000361007.2_Silent_p.G615G|MYO1C_ENST00000575158.1_Silent_p.G615G|MYO1C_ENST00000545534.2_Silent_p.G626G|MYO1C_ENST00000438665.2_Silent_p.G631G	NM_001080779.1	NP_001074248.1	O00159	MYO1C_HUMAN	myosin IC	650	Myosin head-like.				mRNA transport|protein transport|transmembrane transport	basal plasma membrane|cytoplasm|filamentous actin|lateral plasma membrane|nuclear pore|nucleolus|nucleoplasm|stereocilium membrane	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	17				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		TTTCCAACAGCCCCAGGTACT	0.657													14	216					0	0	1	0	0	T	1375272	C	T	1375272	2	4	419	1	0	0	0	0	0	0	0	1	10118	726	26	2		2	MYO1C	17	1375272	Silent	SNP	C	TCGA-S9-A6U5-01A-12D-A33T-08		1375272	79819938	29	34231											
TBX4	9496	broad.mit.edu	37	17	59560289	59560289	+	Silent	SNP	C	C	T			TCGA-S9-A6U5-01A-12D-A33T-08	TCGA-S9-A6U5-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6638014a-2392-40ed-b0e1-0d44f1df57ba	85191ce5-9e6c-45f6-82d9-5df7f9a7eeb5	g.chr17:59560289C>T	ENST00000393853.4	+	9	1216	c.1053C>T	c.(1051-1053)tgC>tgT	p.C351C	TBX4_ENST00000589449.1_3'UTR|TBX4_ENST00000240335.1_Silent_p.C350C			P57082	TBX4_HUMAN	T-box 4	350					leg morphogenesis|skeletal system morphogenesis	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(15)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						ACTTACCTTGCAAGCGATCCT	0.567													16	25					0	0	1	0	0	T	59560289	C	T	59560289	2	4	419	1	0	0	0	0	0	0	0	1	15720	718	25	2		2	TBX4	17	59560289	Silent	SNP	C	TCGA-S9-A6U5-01A-12D-A33T-08	58185017	59560289	21634921	30	34232											
SLC14A1	6563	broad.mit.edu	37	18	43316423	43316423	+	Missense_Mutation	SNP	C	C	A			TCGA-S9-A6U5-01A-12D-A33T-08	TCGA-S9-A6U5-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6638014a-2392-40ed-b0e1-0d44f1df57ba	85191ce5-9e6c-45f6-82d9-5df7f9a7eeb5	g.chr18:43316423C>A	ENST00000321925.4	+	6	705	c.473C>A	c.(472-474)cCa>cAa	p.P158Q	RP11-116O18.3_ENST00000586213.1_RNA|SLC14A1_ENST00000535474.1_Missense_Mutation_p.P26Q|SLC14A1_ENST00000586142.1_Missense_Mutation_p.P158Q|RP11-116O18.3_ENST00000589510.1_RNA|SLC14A1_ENST00000415427.3_Missense_Mutation_p.P214Q|SLC14A1_ENST00000591943.1_Intron|SLC14A1_ENST00000436407.3_Missense_Mutation_p.P214Q|SLC14A1_ENST00000502059.2_Missense_Mutation_p.P50Q|SLC14A1_ENST00000589700.1_Missense_Mutation_p.P158Q|SLC14A1_ENST00000402943.2_Missense_Mutation_p.P53Q	NM_001128588.3|NM_001146036.2|NM_015865.6	NP_001122060.3|NP_001139508.2|NP_056949.4	Q13336	UT1_HUMAN	solute carrier family 14 (urea transporter), member 1	158						integral to plasma membrane	urea transmembrane transporter activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	21						TTTTTTAGCCCAATTTTCTCA	0.473													4	220					3.59834e-05	3.68829e-05	1	1	0	A	43316423	C	A	43316423	3	1	419	1	0	0	0	0	1	0	0	0	14451	594	21	5	659	5	SLC14A1	18	43316423	Missense_Mutation	SNP	C	TCGA-S9-A6U5-01A-12D-A33T-08		43316423	34760825	31	34233											
CIC	23152	broad.mit.edu	37	19	42798857	42798858	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-S9-A6U5-01A-12D-A33T-08	TCGA-S9-A6U5-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6638014a-2392-40ed-b0e1-0d44f1df57ba	85191ce5-9e6c-45f6-82d9-5df7f9a7eeb5	g.chr19:42798857_42798858delCT	ENST00000572681.2	+	20	7215_7216	c.7147_7148delCT	c.(7147-7149)ctcfs	p.L2383fs	CIC_ENST00000575354.2_Frame_Shift_Del_p.L1477fs|CIC_ENST00000160740.3_Frame_Shift_Del_p.L1475fs			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	1477					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				GGTCATGCAGCTCTTTCAGGAC	0.604			"Mis, F, S"		oligodendroglioma								74	50	---	---	---	---						-	42798858	CT	-	42798857	7	5	419	1	0	1	0	1	0	0	0	0	3446	797	28	0	4503	0	CIC	19	42798857	Frame_Shift_Del	DEL	CT	TCGA-S9-A6U5-01A-12D-A33T-08		42798857	16330126	32	34234											
TGM3	7053	broad.mit.edu	37	20	2297883	2297883	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A6U5-01A-12D-A33T-08	TCGA-S9-A6U5-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6638014a-2392-40ed-b0e1-0d44f1df57ba	85191ce5-9e6c-45f6-82d9-5df7f9a7eeb5	g.chr20:2297883T>C	ENST00000381458.5	+	6	902	c.839T>C	c.(838-840)cTc>cCc	p.L280P	TGM3_ENST00000463090.1_3'UTR	NM_003245.3	NP_003236.3	Q08188	TGM3_HUMAN	transglutaminase 3	280					cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization	cytoplasm|extrinsic to internal side of plasma membrane	acyltransferase activity|calcium ion binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	39					L-Glutamine(DB00130)	GCTGGGACCCTCAACACAGGT	0.577													4	209					0	0	1	0	0	C	2297883	T	C	2297883	3	2	419	1	0	0	0	0	1	0	0	0	15891	1551	54	3	861	3	TGM3	20	2297883	Missense_Mutation	SNP	T	TCGA-S9-A6U5-01A-12D-A33T-08		2297883	60727637	33	34235											
FOXA2	3170	broad.mit.edu	37	20	22563390	22563390	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6U5-01A-12D-A33T-08	TCGA-S9-A6U5-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6638014a-2392-40ed-b0e1-0d44f1df57ba	85191ce5-9e6c-45f6-82d9-5df7f9a7eeb5	g.chr20:22563390C>T	ENST00000419308.2	-	2	674	c.490G>A	c.(490-492)Gca>Aca	p.A164T	FOXA2_ENST00000377115.4_Missense_Mutation_p.A158T	NM_021784.4	NP_068556.2	Q9Y261	FOXA2_HUMAN	forkhead box A2	164					cell differentiation in hindbrain|central nervous system myelin formation|chromatin modification|dorsal/ventral neural tube patterning|ectoderm formation|endocrine pancreas development|endoderm development|epithelial tube branching involved in lung morphogenesis|in utero embryonic development|lung epithelial cell differentiation|negative regulation of neuron differentiation|neuron fate specification|oligodendrocyte cell fate commitment|positive regulation of embryonic development|positive regulation of gastrulation|positive regulation of neuron differentiation|primitive streak formation|regulation of blood coagulation|regulation of sequence-specific DNA binding transcription factor activity|response to interleukin-6	cytoplasm|transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			breast(1)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|urinary_tract(1)	22	Lung NSC(19;0.188)					GGCGGCTTTGCGTGCGTGTAG	0.627													4	209					0	0	1	0	0	T	22563390	C	T	22563390	3	4	419	1	0	0	0	0	1	0	0	0	6023	768	27	1	905	1	FOXA2	20	22563390	Missense_Mutation	SNP	C	TCGA-S9-A6U5-01A-12D-A33T-08	20265507	22563390	40462130	34	34236											
ZNF335	63925	broad.mit.edu	37	20	44579160	44579162	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-S9-A6U5-01A-12D-A33T-08	TCGA-S9-A6U5-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6638014a-2392-40ed-b0e1-0d44f1df57ba	85191ce5-9e6c-45f6-82d9-5df7f9a7eeb5	g.chr20:44579160_44579162delCTT	ENST00000322927.2	-	21	3362_3364	c.3262_3264delAAG	c.(3262-3264)aagdel	p.K1088del	ZNF335_ENST00000426788.1_In_Frame_Del_p.K933del	NM_022095.3	NP_071378.1	Q9H4Z2	ZN335_HUMAN	zinc finger protein 335	1088					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	51		Myeloproliferative disorder(115;0.0122)				GACGCAGGTCCTTCTTGTTCTTG	0.601													34	376	---	---	---	---						-	44579162	CTT	-	44579160	7	5	419	1	0	1	0	1	0	0	0	0	17909	680	24	0	796	0	ZNF335	20	44579160	In_Frame_Del	DEL	CTT	TCGA-S9-A6U5-01A-12D-A33T-08	22015770	44579160	18446360	35	34237											
APP	351	broad.mit.edu	37	21	27394182	27394184	+	In_Frame_Del	DEL	GTG	GTG	-			TCGA-S9-A6U5-01A-12D-A33T-08	TCGA-S9-A6U5-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6638014a-2392-40ed-b0e1-0d44f1df57ba	85191ce5-9e6c-45f6-82d9-5df7f9a7eeb5	g.chr21:27394182_27394184delGTG	ENST00000358918.3	-	6	1036_1038	c.837_839delCAC	c.(835-840)accaca>aca	p.279_280TT>T	APP_ENST00000346798.3_In_Frame_Del_p.279_280TT>T|APP_ENST00000448388.2_In_Frame_Del_p.244_245TT>T|APP_ENST00000354192.3_In_Frame_Del_p.223_224TT>T|APP_ENST00000359726.3_In_Frame_Del_p.279_280TT>T|APP_ENST00000474136.1_5'UTR|APP_ENST00000357903.3_In_Frame_Del_p.279_280TT>T|APP_ENST00000440126.3_In_Frame_Del_p.274_275TT>T|APP_ENST00000439274.2_In_Frame_Del_p.223_224TT>T|APP_ENST00000348990.5_In_Frame_Del_p.279_280TT>T	NM_001204301.1|NM_001204302.1	NP_001191230.1|NP_001191231.1	P05067	A4_HUMAN	amyloid beta (A4) precursor protein	279	Poly-Thr.				adult locomotory behavior|axon cargo transport|axon midline choice point recognition|cell adhesion|cellular copper ion homeostasis|collateral sprouting in absence of injury|dendrite development|endocytosis|extracellular matrix organization|G2 phase of mitotic cell cycle|innate immune response|ionotropic glutamate receptor signaling pathway|mating behavior|mRNA polyadenylation|neuron apoptosis|neuron remodeling|Notch signaling pathway|platelet activation|platelet degranulation|positive regulation of mitotic cell cycle|protein phosphorylation|regulation of epidermal growth factor receptor activity|regulation of multicellular organism growth|regulation of synapse structure and activity|regulation of translation|visual learning	axon|cell surface|coated pit|dendritic shaft|dendritic spine|extracellular region|Golgi apparatus|integral to plasma membrane|platelet alpha granule lumen	acetylcholine receptor binding|DNA binding|heparin binding|identical protein binding|metal ion binding|protein binding|PTB domain binding|serine-type endopeptidase inhibitor activity			endometrium(5)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(209;0.00295)				CACAGACTCTgtggtggtggtgg	0.522													7	78	---	---	---	---						-	27394184	GTG	-	27394182	7	5	419	1	0	1	0	1	0	0	0	0	812	1377	48	0	1525	0	APP	21	27394182	In_Frame_Del	DEL	GTG	TCGA-S9-A6U5-01A-12D-A33T-08		27394182	20735713	36	34238											
PFKL	5211	broad.mit.edu	37	21	45726635	45726635	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6U5-01A-12D-A33T-08	TCGA-S9-A6U5-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6638014a-2392-40ed-b0e1-0d44f1df57ba	85191ce5-9e6c-45f6-82d9-5df7f9a7eeb5	g.chr21:45726635G>A	ENST00000403390.1	+	3	298	c.298G>A	c.(298-300)Gag>Aag	p.E100K	PFKL_ENST00000496824.1_3'UTR|PFKL_ENST00000349048.4_Missense_Mutation_p.E53K			P17858	K6PL_HUMAN	phosphofructokinase, liver	53					fructose 6-phosphate metabolic process|glycolysis|protein oligomerization	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|fructose-6-phosphate binding|identical protein binding|kinase binding|metal ion binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	23				Colorectal(79;0.0811)		CCTCATCTACGAGGTAAGGCC	0.607													19	28					0	0	1	0	0	A	45726635	G	A	45726635	3	1	419	1	0	0	0	0	1	0	0	0	11812	1059	37	1	163	1	PFKL	21	45726635	Missense_Mutation	SNP	G	TCGA-S9-A6U5-01A-12D-A33T-08	18332453	45726635	2403260	37	34239											
AR	367	broad.mit.edu	37	X	66765616	66765616	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A6U5-01A-12D-A33T-08	TCGA-S9-A6U5-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6638014a-2392-40ed-b0e1-0d44f1df57ba	85191ce5-9e6c-45f6-82d9-5df7f9a7eeb5	g.chrX:66765616A>G	ENST00000374690.3	+	1	1152	c.628A>G	c.(628-630)Aga>Gga	p.R210G	AR_ENST00000513847.1_3'UTR|AR_ENST00000504326.1_Missense_Mutation_p.R210G|AR_ENST00000396044.3_Missense_Mutation_p.R210G	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN	androgen receptor	208	Modulating.				cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport	cytoplasm|nuclear chromatin|nucleoplasm	androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624)	CAGCAGCGGGAGAGCGAGGGA	0.577									Androgen Insensitivity Syndrome				3	33					0	0	1	0	0	G	66765616	A	G	66765616	3	3	419	1	0	0	0	0	1	0	0	0	833	296	11	3	630	3	AR	23	66765616	Missense_Mutation	SNP	A	TCGA-S9-A6U5-01A-12D-A33T-08		66765616	88504944	38	34240											
AADACL3	126767	broad.mit.edu	37	1	12779671	12779671	+	Silent	SNP	C	C	T			TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr1:12779671C>T	ENST00000359318.5	+	2	397	c.192C>T	c.(190-192)ggC>ggT	p.G64G	AADACL3_ENST00000332530.3_Intron	NM_001103170.1	NP_001096640.1	Q5VUY0	ADCL3_HUMAN	arylacetamide deacetylase-like 3	64							hydrolase activity			breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	15	Ovarian(185;0.249)	Lung NSC(185;8.27e-05)|all_lung(284;9.47e-05)|Renal(390;0.000147)|Colorectal(325;0.000583)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		ACCACGGTGGCGGGGGCGTCA	0.537													4	161					0	0	1	0	0	T	12779671	C	T	12779671	2	4	420	1	0	0	0	0	0	0	0	1	12	755	27	1		1	AADACL3	1	12779671	Silent	SNP	C	TCGA-S9-A6U6-01A-12D-A33T-08		12779671	236470950	1	34241											
DENND2D	79961	broad.mit.edu	37	1	111743020	111743020	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr1:111743020C>T	ENST00000357640.4	-	1	291	c.62G>A	c.(61-63)cGa>cAa	p.R21Q	DENND2D_ENST00000473682.1_5'UTR|DENND2D_ENST00000369752.5_Intron	NM_024901.3	NP_079177.2	Q9H6A0	DEN2D_HUMAN	DENN/MADD domain containing 2D	21										breast(1)|endometrium(1)|kidney(7)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	25		all_cancers(81;0.00198)|all_epithelial(167;0.000686)|all_lung(203;0.00318)|Lung NSC(277;0.00499)		Lung(183;0.0162)|Colorectal(144;0.069)|all cancers(265;0.0757)|LUSC - Lung squamous cell carcinoma(189;0.0845)|Epithelial(280;0.114)|COAD - Colon adenocarcinoma(174;0.14)		CTGACCTGCTCGGAGTTGAAG	0.552													9	14					0	0	1	0	0	T	111743020	C	T	111743020	3	4	420	1	0	0	0	0	1	0	0	0	4459	884	31	1	1401	1	DENND2D	1	111743020	Missense_Mutation	SNP	C	TCGA-S9-A6U6-01A-12D-A33T-08	98963349	111743020	137507601	2	34242											
MAGI3	260425	broad.mit.edu	37	1	114215354	114215354	+	Silent	SNP	G	G	A			TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr1:114215354G>A	ENST00000369615.1	+	18	3098	c.3036G>A	c.(3034-3036)cgG>cgA	p.R1012R	MAGI3_ENST00000369611.4_Silent_p.R1012R|MAGI3_ENST00000369617.4_Silent_p.R1037R|MAGI3_ENST00000307546.9_Silent_p.R1012R	NM_152900.2	NP_690864.2	Q5TCQ9	MAGI3_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 3	1037					apoptosis|interspecies interaction between organisms|intracellular signal transduction	nucleus|tight junction	ATP binding|guanylate kinase activity|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TAGGCAGTCGGCACAATCAGG	0.423													5	418					0	0	1	0	0	A	114215354	G	A	114215354	2	1	420	1	0	0	0	0	0	0	0	1	9242	1190	42	2		2	MAGI3	1	114215354	Silent	SNP	G	TCGA-S9-A6U6-01A-12D-A33T-08	2472334	114215354	135035267	3	34243											
HMCN1	83872	broad.mit.edu	37	1	186120454	186120454	+	Nonsense_Mutation	SNP	A	A	T			TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr1:186120454A>T	ENST00000271588.4	+	94	14960	c.14731A>T	c.(14731-14733)Aaa>Taa	p.K4911*	HMCN1_ENST00000367492.2_Nonsense_Mutation_p.K4911*	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	4911	Nidogen G2 beta-barrel.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						AATACGTGCCAAAATTACCAA	0.313													40	102					0	0	1	0	0	T	186120454	A	T	186120454	4	4	420	1	0	0	0	0	0	1	0	0	7261	131	5	5	15105	5	HMCN1	1	186120454	Nonsense_Mutation	SNP	A	TCGA-S9-A6U6-01A-12D-A33T-08	71905100	186120454	63130167	4	34244											
IKBKE	9641	broad.mit.edu	37	1	206650062	206650062	+	Silent	SNP	G	G	A			TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr1:206650062G>A	ENST00000367120.3	+	7	955	c.582G>A	c.(580-582)caG>caA	p.Q194Q	IKBKE_ENST00000537984.1_Silent_p.Q109Q	NM_001193322.1|NM_014002.3	NP_001180251.1|NP_054721.1	Q14164	IKKE_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase epsilon	194	Protein kinase.				DNA damage response, signal transduction resulting in induction of apoptosis|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane|PML body	ATP binding|IkappaB kinase activity|NF-kappaB-inducing kinase activity|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|skin(2)	32	Breast(84;0.137)					GAAAGCCCCAGCAAAAAGCGT	0.612													4	82					0	0	1	0	0	A	206650062	G	A	206650062	2	1	420	1	0	0	0	0	0	0	0	1	7656	962	34	2		2	IKBKE	1	206650062	Silent	SNP	G	TCGA-S9-A6U6-01A-12D-A33T-08	20529608	206650062	42600559	5	34245											
TTN	7273	broad.mit.edu	37	2	179542881	179542881	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr2:179542881G>A	ENST00000589042.1	-	145	34189	c.33965C>T	c.(33964-33966)cCg>cTg	p.P11322L	TTN_ENST00000342992.6_Missense_Mutation_p.P10078L|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.P11005L|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	11005	Glu-rich.|Pro-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.P10078L(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CACTTTTTTCGGAACAGGTGT	0.358													29	146					0	0	1	0	0	A	179542881	G	A	179542881	3	1	420	1	0	0	0	0	1	0	0	0	16797	1116	39	1	70436	1	TTN	2	179542881	Missense_Mutation	SNP	G	TCGA-S9-A6U6-01A-12D-A33T-08		179542881	63656492	6	34246											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								66	122					0	0	1	0	0	T	209113112	C	T	209113112	3	4	420	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-S9-A6U6-01A-12D-A33T-08	29570231	209113112	34086261	7	34247											
RNF25	64320	broad.mit.edu	37	2	219529149	219529149	+	Missense_Mutation	SNP	A	A	C			TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr2:219529149A>C	ENST00000295704.2	-	10	1351	c.911T>G	c.(910-912)tTg>tGg	p.L304W		NM_022453.2	NP_071898.2	Q96BH1	RNF25_HUMAN	ring finger protein 25	304					positive regulation of NF-kappaB transcription factor activity	cytosol|nucleus	NF-kappaB binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24		Renal(207;0.0474)		Epithelial(149;6.99e-07)|all cancers(144;0.000129)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGGAGGTGGCAAAGTGGATTG	0.547													26	166					0	0	1	0	0	C	219529149	A	C	219529149	3	2	420	1	0	0	0	0	1	0	0	0	13537	131	5	5	472	5	RNF25	2	219529149	Missense_Mutation	SNP	A	TCGA-S9-A6U6-01A-12D-A33T-08	10416037	219529149	23670224	8	34248											
TSEN2	80746	broad.mit.edu	37	3	12544759	12544759	+	Splice_Site	SNP	A	A	G			TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr3:12544759A>G	ENST00000444864.1	+	5	695		c.e5-1		TSEN2_ENST00000284995.6_Splice_Site|TSEN2_ENST00000454502.2_Splice_Site|TSEN2_ENST00000314571.7_Splice_Site|TSEN2_ENST00000415684.1_Splice_Site|TSEN2_ENST00000383797.5_Splice_Site|TSEN2_ENST00000402228.3_Splice_Site	NM_001145395.1	NP_001138867.1	Q8NCE0	SEN2_HUMAN	TSEN2 tRNA splicing endonuclease subunit						mRNA processing|tRNA splicing, via endonucleolytic cleavage and ligation	cytoplasm|nucleolus|tRNA-intron endonuclease complex	nucleic acid binding|tRNA-intron endonuclease activity			central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)	19						TCTGTCTTGCAGGTATCAGCA	0.433													5	133					0	0	1	0	0	G	12544759	A	G	12544759	5	3	420	1	0	0	0	0	0	0	1	0	16673	202	7	3	321	3	TSEN2	3	12544759	Splice_Site	SNP	A	TCGA-S9-A6U6-01A-12D-A33T-08		12544759	185477671	9	34249											
LRRC2	79442	broad.mit.edu	37	3	46568977	46568977	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr3:46568977C>T	ENST00000395905.3	-	7	1260	c.868G>A	c.(868-870)Gtc>Atc	p.V290I	LRRC2_ENST00000296144.3_Missense_Mutation_p.V290I	NM_024512.4	NP_078788.2	Q9BYS8	LRRC2_HUMAN	leucine rich repeat containing 2	290										breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	17		Ovarian(412;0.0563)		OV - Ovarian serous cystadenocarcinoma(275;6.37e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00133)|KIRC - Kidney renal clear cell carcinoma(197;0.0214)|Kidney(197;0.0254)		TCCCCACTGACGACTAACAGA	0.483													51	89					0	0	1	0	0	T	46568977	C	T	46568977	3	4	420	1	0	0	0	0	1	0	0	0	9021	536	19	1	259	1	LRRC2	3	46568977	Missense_Mutation	SNP	C	TCGA-S9-A6U6-01A-12D-A33T-08	34024218	46568977	151453453	10	34250											
RPN1	6184	broad.mit.edu	37	3	128344776	128344776	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr3:128344776G>A	ENST00000296255.3	-	7	1264	c.1216C>T	c.(1216-1218)Cgc>Tgc	p.R406C	RPN1_ENST00000497289.1_Missense_Mutation_p.R234C	NM_002950.3	NP_002941.1	P04843	RPN1_HUMAN	ribophorin I	406					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|melanosome|oligosaccharyltransferase complex|rough microsome	dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|stomach(2)	13				GBM - Glioblastoma multiforme(114;0.189)		ATCACAGGGCGGCCAAATGTG	0.478			T	EVI1	AML								55	81					0	0	1	0	0	A	128344776	G	A	128344776	3	1	420	1	0	0	0	0	1	0	0	0	13659	1116	39	1	623	1	RPN1	3	128344776	Missense_Mutation	SNP	G	TCGA-S9-A6U6-01A-12D-A33T-08	81775799	128344776	69677654	11	34251											
TMCC1	23023	broad.mit.edu	37	3	129370592	129370592	+	Missense_Mutation	SNP	T	T	A			TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr3:129370592T>A	ENST00000393238.3	-	6	2034	c.1694A>T	c.(1693-1695)cAg>cTg	p.Q565L	TMCC1_ENST00000426664.2_Missense_Mutation_p.Q451L|TMCC1_ENST00000329333.5_Missense_Mutation_p.Q386L|TMCC1_ENST00000432054.2_Missense_Mutation_p.Q241L	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN	transmembrane and coiled-coil domain family 1	565						integral to membrane			PLXND1/TMCC1(4)	breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						CTGCTGCTGCTGCAGCTCCAT	0.572													4	168					0	0	1	0	0	A	129370592	T	A	129370592	3	1	420	1	0	0	0	0	1	0	0	0	16052	1580	55	5	271	5	TMCC1	3	129370592	Missense_Mutation	SNP	T	TCGA-S9-A6U6-01A-12D-A33T-08	1025816	129370592	68651838	12	34252											
KNG1	3827	broad.mit.edu	37	3	186445048	186445048	+	Missense_Mutation	SNP	G	G	A	rs144123648		TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr3:186445048G>A	ENST00000265023.4	+	5	799	c.587G>A	c.(586-588)cGa>cAa	p.R196Q	RP11-573D15.8_ENST00000599314.1_RNA|KNG1_ENST00000447445.1_Intron|KNG1_ENST00000287611.2_Missense_Mutation_p.R196Q	NM_001102416.2	NP_001095886.1	P01042	KNG1_HUMAN	kininogen 1	196	Cystatin 2.				blood coagulation, intrinsic pathway|elevation of cytosolic calcium ion concentration|inflammatory response|negative regulation of blood coagulation|negative regulation of cell adhesion|platelet activation|platelet degranulation|positive regulation of apoptosis|positive regulation of renal sodium excretion|positive regulation of urine volume|smooth muscle contraction|vasodilation	extracellular space|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding|receptor binding|zinc ion binding			endometrium(1)|lung(15)|prostate(1)|skin(2)|stomach(2)	21	all_cancers(143;8.96e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;4.12e-20)	GBM - Glioblastoma multiforme(93;0.0798)	Ouabain(DB01092)	TTGAACTTTCGAATTACCTAC	0.368													8	141					0	0	1	0	0	A	186445048	G	A	186445048	3	1	420	1	0	0	0	0	1	0	0	0	8470	1058	37	1	605	1	KNG1	3	186445048	Missense_Mutation	SNP	G	TCGA-S9-A6U6-01A-12D-A33T-08	57074456	186445048	11577382	13	34253											
PCDH7	5099	broad.mit.edu	37	4	30725788	30725788	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr4:30725788G>A	ENST00000361762.2	+	1	3752	c.2744G>A	c.(2743-2745)gGc>gAc	p.G915D	PCDH7_ENST00000543491.1_Missense_Mutation_p.G915D	NM_002589.2	NP_002580.2	O60245	PCDH7_HUMAN	protocadherin 7	915					homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						TATGAAGCCGGCAAAAAAGAT	0.388													4	196					0	0	1	0	0	A	30725788	G	A	30725788	3	1	420	1	0	0	0	0	1	0	0	0	11563	1203	42	2	2746	2	PCDH7	4	30725788	Missense_Mutation	SNP	G	TCGA-S9-A6U6-01A-12D-A33T-08		30725788	160428488	14	34254											
SPEF2	79925	broad.mit.edu	37	5	35691228	35691228	+	Missense_Mutation	SNP	G	G	T			TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr5:35691228G>T	ENST00000440995.2	+	11	1614	c.1614G>T	c.(1612-1614)agG>agT	p.R538S	SPEF2_ENST00000356031.3_Missense_Mutation_p.R538S|SPEF2_ENST00000509059.1_Missense_Mutation_p.R538S|CTD-2113L7.1_ENST00000510433.1_RNA			Q9C093	SPEF2_HUMAN	sperm flagellar 2	538					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TTCTTCACAGGCTAGCTGAAA	0.413													9	200					7.48243e-07	7.91e-07	1	1	0	T	35691228	G	T	35691228	3	4	420	1	0	0	0	0	1	0	0	0	15091	1194	42	5	1677	5	SPEF2	5	35691228	Missense_Mutation	SNP	G	TCGA-S9-A6U6-01A-12D-A33T-08		35691228	145224032	15	34255											
UBR2	23304	broad.mit.edu	37	6	42620362	42620362	+	Nonsense_Mutation	SNP	G	G	A			TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr6:42620362G>A	ENST00000372901.1	+	25	3006	c.2748G>A	c.(2746-2748)tgG>tgA	p.W916*	UBR2_ENST00000372899.1_Nonsense_Mutation_p.W916*|UBR2_ENST00000372883.3_Nonsense_Mutation_p.W420*			Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin 2	916					cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade	nucleus|plasma membrane	leucine binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			GATATGCCTGGTCAGAGTCCA	0.368													6	248					0	0	1	0	0	A	42620362	G	A	42620362	4	1	420	1	0	0	0	0	0	1	0	0	16963	1270	44	2	2992	2	UBR2	6	42620362	Nonsense_Mutation	SNP	G	TCGA-S9-A6U6-01A-12D-A33T-08		42620362	128494705	16	34256											
AHR	196	broad.mit.edu	37	7	17379702	17379702	+	Silent	SNP	A	A	T			TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr7:17379702A>T	ENST00000242057.4	+	10	2896	c.2253A>T	c.(2251-2253)ggA>ggT	p.G751G		NM_001621.4	NP_001612.1	P35869	AHR_HUMAN	aryl hydrocarbon receptor	751					apoptosis|blood vessel development|cell cycle|regulation of B cell proliferation|response to stress|transcription from RNA polymerase II promoter|xenobiotic metabolic process	cytosolic aryl hydrocarbon receptor complex|transcription factor complex	Hsp90 protein binding|ligand-dependent nuclear receptor activity|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|urinary_tract(3)	33	Lung NSC(10;0.0392)|all_lung(11;0.0754)					AAAAGCATGGATTAAATCCAC	0.463													44	232					0	0	1	0	0	T	17379702	A	T	17379702	2	4	420	1	0	0	0	0	0	0	0	1	413	320	12	4		4	AHR	7	17379702	Silent	SNP	A	TCGA-S9-A6U6-01A-12D-A33T-08		17379702	141758961	17	34257											
NPC1L1	29881	broad.mit.edu	37	7	44571716	44571716	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr7:44571716G>A	ENST00000289547.4	-	9	2565	c.2510C>T	c.(2509-2511)gCc>gTc	p.A837V	NPC1L1_ENST00000381160.3_Missense_Mutation_p.A837V|NPC1L1_ENST00000546276.1_Missense_Mutation_p.A837V	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	837					cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	CAGGAAGGGGGCATAAGCCTT	0.647													4	140					0	0	1	0	0	A	44571716	G	A	44571716	3	1	420	1	0	0	0	0	1	0	0	0	10618	1203	42	2	1617	2	NPC1L1	7	44571716	Missense_Mutation	SNP	G	TCGA-S9-A6U6-01A-12D-A33T-08	27192014	44571716	114566947	18	34258											
CASP2	835	broad.mit.edu	37	7	142989399	142989399	+	Missense_Mutation	SNP	G	G	T			TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr7:142989399G>T	ENST00000310447.5	+	3	473	c.232G>T	c.(232-234)Gtg>Ttg	p.V78L	CASP2_ENST00000493642.1_3'UTR|CASP2_ENST00000392925.2_Missense_Mutation_p.V78L	NM_032982.3|NM_032983.3	NP_116764.2|NP_116765.2	P42575	CASP2_HUMAN	caspase 2, apoptosis-related cysteine peptidase	78	CARD.				apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|protein maturation by peptide bond cleavage	cytosol	cysteine-type endopeptidase activity|enzyme binding|protein binding|protein domain specific binding			endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)	21	Melanoma(164;0.059)					TTAGGCCAAAGTGGGCAGTTT	0.443													11	137					4.3838e-07	4.70147e-07	1	1	0	T	142989399	G	T	142989399	3	4	420	1	0	0	0	0	1	0	0	0	2689	1029	36	4	242	4	CASP2	7	142989399	Missense_Mutation	SNP	G	TCGA-S9-A6U6-01A-12D-A33T-08	98417683	142989399	16149264	19	34259											
XKR6	286046	broad.mit.edu	37	8	10756203	10756203	+	Silent	SNP	G	G	A	rs150672872		TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr8:10756203G>A	ENST00000416569.2	-	3	1211	c.1185C>T	c.(1183-1185)tgC>tgT	p.C395C	XKR6_ENST00000304437.2_Silent_p.C116C	NM_173683.3	NP_775954.2	Q5GH73	XKR6_HUMAN	XK, Kell blood group complex subunit-related family, member 6	395						integral to membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(8)|ovary(2)|prostate(1)|skin(3)	31				Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555)		AGGCCATGGCGCACCAGTGAA	0.512													17	98					0	0	1	0	0	A	10756203	G	A	10756203	2	1	420	1	0	0	0	0	0	0	0	1	17495	1079	38	1		1	XKR6	8	10756203	Silent	SNP	G	TCGA-S9-A6U6-01A-12D-A33T-08		10756203	135607819	20	34260											
FAM167A	83648	broad.mit.edu	37	8	11301717	11301717	+	Missense_Mutation	SNP	C	C	A			TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr8:11301717C>A	ENST00000284486.4	-	2	742	c.204G>T	c.(202-204)caG>caT	p.Q68H	FAM167A_ENST00000534308.1_Missense_Mutation_p.Q68H|FAM167A_ENST00000528897.1_Missense_Mutation_p.Q68H	NM_053279.2	NP_444509.2	Q96KS9	F167A_HUMAN	family with sequence similarity 167, member A	68										breast(1)|endometrium(1)|large_intestine(4)|lung(2)|prostate(1)	9						CCAAGCTCGCCTGTGGCTCCG	0.692													4	124					1	1	1	1	0	A	11301717	C	A	11301717	3	1	420	1	0	0	0	0	1	0	0	0	5513	680	24	4	448	4	FAM167A	8	11301717	Missense_Mutation	SNP	C	TCGA-S9-A6U6-01A-12D-A33T-08	545514	11301717	135062305	21	34261											
IDO2	169355	broad.mit.edu	37	8	39840263	39840263	+	Silent	SNP	G	G	A			TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr8:39840263G>A	ENST00000502986.2	+	5	689	c.447G>A	c.(445-447)acG>acA	p.T149T	IDO2_ENST00000389060.4_Silent_p.T136T|IDO2_ENST00000343295.4_3'UTR|RP11-44K6.3_ENST00000517623.1_RNA	NM_194294.2	NP_919270.2	Q6ZQW0	I23O2_HUMAN	indoleamine 2,3-dioxygenase 2	136					tryptophan catabolic process to kynurenine	cytosol	heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	18						TGGTGCTGACGAACTGGACCA	0.468													12	20					0	0	1	0	0	A	39840263	G	A	39840263	2	1	420	1	0	0	0	0	0	0	0	1	7546	1045	37	1		1	IDO2	8	39840263	Silent	SNP	G	TCGA-S9-A6U6-01A-12D-A33T-08	28538546	39840263	106523759	22	34262											
MTSS1	9788	broad.mit.edu	37	8	125603405	125603405	+	Silent	SNP	T	T	G			TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr8:125603405T>G	ENST00000518547.1	-	4	753	c.280A>C	c.(280-282)Agg>Cgg	p.R94R	MTSS1_ENST00000325064.5_Silent_p.R94R|MTSS1_ENST00000378017.3_Silent_p.R94R|MTSS1_ENST00000354184.4_5'UTR	NM_001282971.1|NM_014751.4	NP_001269900.1|NP_055566.3	O43312	MTSS1_HUMAN	metastasis suppressor 1	94	IMD.				actin cytoskeleton organization|cell adhesion|cellular component movement|filopodium assembly|transmembrane receptor protein tyrosine kinase signaling pathway	actin cytoskeleton|endocytic vesicle|ruffle	actin monomer binding|cytoskeletal adaptor activity|receptor binding|SH3 domain binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37	Ovarian(258;0.00438)|all_neural(195;0.00459)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			GAAAACTGCCTCAGCTTGGCT	0.512													15	176					0	0	1	0	0	G	125603405	T	G	125603405	2	3	420	1	0	0	0	0	0	0	0	1	10010	1550	54	5		5	MTSS1	8	125603405	Silent	SNP	T	TCGA-S9-A6U6-01A-12D-A33T-08	85763142	125603405	20760617	23	34263											
TOP1MT	116447	broad.mit.edu	37	8	144406702	144406702	+	Missense_Mutation	SNP	G	G	C			TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr8:144406702G>C	ENST00000523676.1	-	7	880	c.475C>G	c.(475-477)Cag>Gag	p.Q159E	TOP1MT_ENST00000521193.1_Missense_Mutation_p.Q159E|TOP1MT_ENST00000519148.1_Missense_Mutation_p.Q159E|TOP1MT_ENST00000329245.4_Missense_Mutation_p.Q257E			Q969P6	TOP1M_HUMAN	topoisomerase (DNA) I, mitochondrial	257					DNA topological change	chromosome|mitochondrial nucleoid	ATP binding|chromatin DNA binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity			endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	23	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)		Irinotecan(DB00762)|Topotecan(DB01030)	ATGGAGTTCTGAACGCTCTCG	0.627													23	201					0	0	1	0	0	C	144406702	G	C	144406702	3	2	420	1	0	0	0	0	1	0	0	0	16425	1299	45	5	1072	5	TOP1MT	8	144406702	Missense_Mutation	SNP	G	TCGA-S9-A6U6-01A-12D-A33T-08	18803297	144406702	1957320	24	34264											
ZC3H3	23144	broad.mit.edu	37	8	144522390	144522390	+	Missense_Mutation	SNP	G	G	T			TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr8:144522390G>T	ENST00000262577.5	-	11	2667	c.2636C>A	c.(2635-2637)tCc>tAc	p.S879Y		NM_015117.2	NP_055932.2	Q8IXZ2	ZC3H3_HUMAN	zinc finger CCCH-type containing 3	879	Poly-Ser.				mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus	nucleus	nucleic acid binding|zinc ion binding	p.S879F(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)			aggggatgaggaggaggagga	0.657													3	23					0.004672	0.00480178	1	1	0	T	144522390	G	T	144522390	3	4	420	1	0	0	0	0	1	0	0	0	17628	1174	41	5	218	5	ZC3H3	8	144522390	Missense_Mutation	SNP	G	TCGA-S9-A6U6-01A-12D-A33T-08	115688	144522390	1841632	25	34265											
RUSC2	9853	broad.mit.edu	37	9	35555653	35555653	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr9:35555653G>A	ENST00000455600.1	+	3	3180	c.2611G>A	c.(2611-2613)Gcc>Acc	p.A871T		NM_001135999.1	NP_001129471	Q8N2Y8	RUSC2_HUMAN	RUN and SH3 domain containing 2	871						cytosol				NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			AGAGAGCCTGGCCCGGGGAGG	0.627													13	73					0	0	1	0	0	A	35555653	G	A	35555653	3	1	420	1	0	0	0	0	1	0	0	0	13803	1203	42	2	2617	2	RUSC2	9	35555653	Missense_Mutation	SNP	G	TCGA-S9-A6U6-01A-12D-A33T-08		35555653	105657778	26	34266											
DFNB31	25861	broad.mit.edu	37	9	117240942	117240942	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr9:117240942C>T	ENST00000362057.3	-	2	896	c.728G>A	c.(727-729)aGc>aAc	p.S243N	DFNB31_ENST00000265134.6_5'UTR|DFNB31_ENST00000374057.3_Missense_Mutation_p.S243N	NM_001173425.1|NM_015404.3	NP_001166896.1|NP_056219	Q9P202	WHRN_HUMAN	deafness, autosomal recessive 31	243					inner ear receptor stereocilium organization|retina homeostasis|sensory perception of light stimulus|sensory perception of sound	cytoplasm|growth cone|stereocilium				central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|ovary(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TGGGGAGATGCTGCGGCCCTG	0.677													7	34					0	0	1	0	0	T	117240942	C	T	117240942	3	4	420	1	0	0	0	0	1	0	0	0	4483	797	28	2	2039	2	DFNB31	9	117240942	Missense_Mutation	SNP	C	TCGA-S9-A6U6-01A-12D-A33T-08	81685289	117240942	23972489	27	34267											
KLF6	1316	broad.mit.edu	37	10	3824266	3824266	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr10:3824266T>C	ENST00000497571.1	-	2	503	c.243A>G	c.(241-243)atA>atG	p.I81M	KLF6_ENST00000469435.1_Missense_Mutation_p.I81M|KLF6_ENST00000542957.1_Missense_Mutation_p.I81M	NM_001160124.1|NM_001300.5	NP_001153596.1|NP_001291.3	Q99612	KLF6_HUMAN	Kruppel-like factor 6	81					B cell differentiation	nucleus	zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				Colorectal(1;0.238)		GACTGGAAGATATCTTCAGTT	0.468											OREG0019980	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	320					0	0	1	0	0	C	3824266	T	C	3824266	3	2	420	1	0	0	0	0	1	0	0	0	8393	1396	49	3	620	3	KLF6	10	3824266	Missense_Mutation	SNP	T	TCGA-S9-A6U6-01A-12D-A33T-08		3824266	131710481	28	34268											
ITIH5	80760	broad.mit.edu	37	10	7618752	7618752	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr10:7618752G>A	ENST00000256861.6	-	10	1720	c.1642C>T	c.(1642-1644)Cgg>Tgg	p.R548W	ITIH5_ENST00000397145.2_Missense_Mutation_p.R548W|ITIH5_ENST00000397146.2_Missense_Mutation_p.R548W|ITIH5_ENST00000434980.1_5'UTR|ITIH5_ENST00000446830.2_Missense_Mutation_p.R330W|ITIH5_ENST00000298441.6_Missense_Mutation_p.R334W	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	548					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						TTCTGAGGCCGCACAGGCACA	0.587													4	109					0	0	1	0	0	A	7618752	G	A	7618752	3	1	420	1	0	0	0	0	1	0	0	0	7951	1086	38	1	1329	1	ITIH5	10	7618752	Missense_Mutation	SNP	G	TCGA-S9-A6U6-01A-12D-A33T-08	3794486	7618752	127915995	29	34269											
ANK3	288	broad.mit.edu	37	10	61830854	61830854	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr10:61830854G>A	ENST00000280772.2	-	37	9976	c.9785C>T	c.(9784-9786)gCg>gTg	p.A3262V	ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)						establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						AATCTGGTCCGCATCCAGTGG	0.438													6	405					0	0	1	0	0	A	61830854	G	A	61830854	3	1	420	1	0	0	0	0	1	0	0	0	618	1087	38	1	3689	1	ANK3	10	61830854	Missense_Mutation	SNP	G	TCGA-S9-A6U6-01A-12D-A33T-08	54212102	61830854	73703893	30	34270											
USH1C	10083	broad.mit.edu	37	11	17522639	17522639	+	Missense_Mutation	SNP	A	A	C			TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr11:17522639A>C	ENST00000005226.7	-	23	2338	c.2339T>G	c.(2338-2340)gTc>gGc	p.V780G	USH1C_ENST00000529563.1_5'UTR|USH1C_ENST00000527720.1_Missense_Mutation_p.V449G|USH1C_ENST00000527020.1_Missense_Mutation_p.V461G|USH1C_ENST00000318024.4_Missense_Mutation_p.V480G	NM_153676.3	NP_710142.1	Q9Y6N9	USH1C_HUMAN	Usher syndrome 1C (autosomal recessive, severe)	480					equilibrioception|G2/M transition of mitotic cell cycle|photoreceptor cell maintenance|sensory perception of sound	apical part of cell|cytoplasm|stereocilium	protein binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						AGCAGAAACGACCACCTTCCC	0.592													6	35					0	0	1	0	0	C	17522639	A	C	17522639	3	2	420	1	0	0	0	0	1	0	0	0	17094	275	10	5	380	5	USH1C	11	17522639	Missense_Mutation	SNP	A	TCGA-S9-A6U6-01A-12D-A33T-08		17522639	117483877	31	34271											
FOLH1	2346	broad.mit.edu	37	11	49179537	49179537	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr11:49179537T>C	ENST00000340334.7	-	15	1822	c.1454A>G	c.(1453-1455)aAa>aGa	p.K485R	FOLH1_ENST00000533034.1_Missense_Mutation_p.K485R|FOLH1_ENST00000343844.4_Missense_Mutation_p.K192R|FOLH1_ENST00000256999.2_Missense_Mutation_p.K500R|FOLH1_ENST00000356696.3_Missense_Mutation_p.K500R	NM_001193471.1|NM_001193472.1	NP_001180400.1|NP_001180401.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	500	NAALADase.				proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)|L-Glutamic Acid(DB00142)	GGAAGGACTTTTTTTAGTCCA	0.353													25	167					0	0	1	0	0	C	49179537	T	C	49179537	3	2	420	1	0	0	0	0	1	0	0	0	6012	1841	64	3	777	3	FOLH1	11	49179537	Missense_Mutation	SNP	T	TCGA-S9-A6U6-01A-12D-A33T-08	31656898	49179537	85826979	32	34272											
SNX32	254122	broad.mit.edu	37	11	65618619	65618619	+	Missense_Mutation	SNP	C	C	T	rs147615662	byFrequency	TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr11:65618619C>T	ENST00000308342.6	+	7	1122	c.697C>T	c.(697-699)Cgc>Tgc	p.R233C		NM_152760.2	NP_689973.2	Q86XE0	SNX32_HUMAN	sorting nexin 32	233					cell communication|protein transport		phosphatidylinositol binding	p.R233C(1)		endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				READ - Rectum adenocarcinoma(159;0.171)		CCGCGTCATGCGCGCCCACAA	0.632											OREG0021087	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	293					0	0	1	0	0	T	65618619	C	T	65618619	3	4	420	1	0	0	0	0	1	0	0	0	14956	768	27	1	723	1	SNX32	11	65618619	Missense_Mutation	SNP	C	TCGA-S9-A6U6-01A-12D-A33T-08	16439082	65618619	69387897	33	34273											
CATSPER1	117144	broad.mit.edu	37	11	65787824	65787824	+	Silent	SNP	C	C	T	rs141309763		TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr11:65787824C>T	ENST00000312106.5	-	8	2165	c.2028G>A	c.(2026-2028)acG>acA	p.T676T		NM_053054.3	NP_444282.3	Q8NEC5	CTSR1_HUMAN	cation channel, sperm associated 1	676					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	protein binding			breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						TGAACAGCGCCGTCTGGAAGC	0.627													4	257					0	0	1	0	0	T	65787824	C	T	65787824	2	4	420	1	0	0	0	0	0	0	0	1	2705	639	23	1		1	CATSPER1	11	65787824	Silent	SNP	C	TCGA-S9-A6U6-01A-12D-A33T-08	169205	65787824	69218692	34	34274											
LRRC32	2615	broad.mit.edu	37	11	76371819	76371819	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr11:76371819G>A	ENST00000407242.2	-	3	1060	c.818C>T	c.(817-819)tCc>tTc	p.S273F	LRRC32_ENST00000260061.5_Missense_Mutation_p.S273F|AP001189.4_ENST00000447519.1_RNA|LRRC32_ENST00000404995.1_Missense_Mutation_p.S273F|LRRC32_ENST00000464145.1_Intron	NM_005512.2	NP_005503.1	Q14392	LRC32_HUMAN	leucine rich repeat containing 32	273						integral to plasma membrane				endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1)	31						GAGGTTGTTGGACAAGTTCAG	0.642													19	112					0	0	1	0	0	A	76371819	G	A	76371819	3	1	420	1	0	0	0	0	1	0	0	0	9032	1174	41	2	1174	2	LRRC32	11	76371819	Missense_Mutation	SNP	G	TCGA-S9-A6U6-01A-12D-A33T-08	10583995	76371819	58634697	35	34275											
GRIA4	2893	broad.mit.edu	37	11	105769151	105769151	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr11:105769151A>G	ENST00000393127.2	+	7	1329	c.883A>G	c.(883-885)Aag>Gag	p.K295E	GRIA4_ENST00000393125.2_Missense_Mutation_p.K295E|GRIA4_ENST00000428631.2_Missense_Mutation_p.K295E|GRIA4_ENST00000282499.5_Missense_Mutation_p.K295E|GRIA4_ENST00000530497.1_Missense_Mutation_p.K295E|GRIA4_ENST00000525187.1_Missense_Mutation_p.K295E	NM_001077243.2	NP_001070711	P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	295					glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	L-Glutamic Acid(DB00142)	GACTCCTCCAAAGGTATTTGT	0.313													23	135					0	0	1	0	0	G	105769151	A	G	105769151	3	3	420	1	0	0	0	0	1	0	0	0	6811	15	1	3	905	3	GRIA4	11	105769151	Missense_Mutation	SNP	A	TCGA-S9-A6U6-01A-12D-A33T-08	29397332	105769151	29237365	36	34276											
H1FNT	341567	broad.mit.edu	37	12	48723148	48723148	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr12:48723148C>T	ENST00000335017.1	+	1	386	c.74C>T	c.(73-75)gCg>gTg	p.A25V		NM_181788.1	NP_861453.1	Q75WM6	H1FNT_HUMAN	H1 histone family, member N, testis-specific	25					chromosome condensation|multicellular organismal development|sperm chromatin condensation|spermatid nucleus elongation	nuclear chromatin	ATP binding|DNA binding			endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	13						ATGGCTGAGGCGCCTGGGCCC	0.657													4	37					0	0	1	0	0	T	48723148	C	T	48723148	3	4	420	1	0	0	0	0	1	0	0	0	6962	768	27	1	76	1	H1FNT	12	48723148	Missense_Mutation	SNP	C	TCGA-S9-A6U6-01A-12D-A33T-08		48723148	85128747	37	34277											
GCN1L1	10985	broad.mit.edu	37	12	120574422	120574422	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr12:120574422C>T	ENST00000300648.6	-	51	6904	c.6892G>A	c.(6892-6894)Gcc>Acc	p.A2298T		NM_006836.1	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	2298				A -> V (in Ref. 7; AAC51648).	regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GGCCTCAGGGCGTCAGCCGAG	0.622													32	70					0	0	1	0	0	T	120574422	C	T	120574422	3	4	420	1	0	0	0	0	1	0	0	0	6339	768	27	1	1155	1	GCN1L1	12	120574422	Missense_Mutation	SNP	C	TCGA-S9-A6U6-01A-12D-A33T-08	71851274	120574422	13277473	38	34278											
ENOX1	55068	broad.mit.edu	37	13	43918782	43918782	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr13:43918782C>T	ENST00000261488.6	-	9	1505	c.928G>A	c.(928-930)Gcc>Acc	p.A310T	ENOX1_ENST00000540032.1_Missense_Mutation_p.A123T|ENOX1_ENST00000412891.1_Missense_Mutation_p.A310T	NM_001242863.1|NM_017993.3	NP_001229792.1|NP_060463.2	Q8TC92	ENOX1_HUMAN	ecto-NOX disulfide-thiol exchanger 1	310					electron transport chain|rhythmic process|transport	extracellular space|plasma membrane	nucleic acid binding|nucleotide binding|oxidoreductase activity			breast(1)|endometrium(3)|large_intestine(7)|lung(18)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(1)	34		Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406)		GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172)		TGGCTGTTGGCCGACTGCACC	0.488													5	258					0	0	1	0	0	T	43918782	C	T	43918782	3	4	420	1	0	0	0	0	1	0	0	0	5154	739	26	2	1039	2	ENOX1	13	43918782	Missense_Mutation	SNP	C	TCGA-S9-A6U6-01A-12D-A33T-08		43918782	71251096	39	34279											
LMO7	4008	broad.mit.edu	37	13	76429413	76429413	+	Missense_Mutation	SNP	G	G	A	rs144929980	by1000genomes	TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr13:76429413G>A	ENST00000341547.4	+	28	5093	c.3833G>A	c.(3832-3834)cGc>cAc	p.R1278H	LMO7_ENST00000465261.2_Intron|LMO7_ENST00000321797.8_Missense_Mutation_p.R1327H|LMO7_ENST00000377534.3_Intron|LMO7_ENST00000526202.1_Missense_Mutation_p.R1204H|LMO7_ENST00000357063.3_Intron	NM_005358.5	NP_005349.3	Q8WWI1	LMO7_HUMAN	LIM domain 7	1612						cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		AGTGGGAAGCGCATATGCTCC	0.453													5	97					0	0	1	0	0	A	76429413	G	A	76429413	3	1	420	1	0	0	0	0	1	0	0	0	8896	1087	38	1	4953	1	LMO7	13	76429413	Missense_Mutation	SNP	G	TCGA-S9-A6U6-01A-12D-A33T-08	32510631	76429413	38740465	40	34280											
AHNAK2	113146	broad.mit.edu	37	14	105412807	105412807	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr14:105412807C>T	ENST00000333244.5	-	7	9100	c.8981G>A	c.(8980-8982)gGc>gAc	p.G2994D	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2994						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			AATGGACTTGCCTGGGGCAGA	0.592													7	914					0	0	1	0	0	T	105412807	C	T	105412807	3	4	420	1	0	0	0	0	1	0	0	0	412	739	26	2	8410	2	AHNAK2	14	105412807	Missense_Mutation	SNP	C	TCGA-S9-A6U6-01A-12D-A33T-08		105412807	1936733	41	34281											
SLC27A2	11001	broad.mit.edu	37	15	50526124	50526124	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr15:50526124G>A	ENST00000267842.5	+	9	1847	c.1615G>A	c.(1615-1617)Gga>Aga	p.G539R	SLC27A2_ENST00000544960.1_Missense_Mutation_p.G304R|SLC27A2_ENST00000380902.4_Missense_Mutation_p.G486R	NM_003645.3	NP_003636.2	O14975	S27A2_HUMAN	solute carrier family 27 (fatty acid transporter), member 2	539					bile acid biosynthetic process|fatty acid alpha-oxidation	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity|phytanate-CoA ligase activity|pristanate-CoA ligase activity			NS(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_lung(180;0.00177)		all cancers(107;1.16e-06)|GBM - Glioblastoma multiforme(94;0.000113)		TGAATTTGATGGAAAGAAACT	0.378													23	123					0	0	1	0	0	A	50526124	G	A	50526124	3	1	420	1	0	0	0	0	1	0	0	0	14581	1349	47	2	1649	2	SLC27A2	15	50526124	Missense_Mutation	SNP	G	TCGA-S9-A6U6-01A-12D-A33T-08		50526124	52005268	42	34282											
GRIN2A	2903	broad.mit.edu	37	16	9858072	9858072	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr16:9858072G>A	ENST00000396573.2	-	14	3638	c.3329C>T	c.(3328-3330)tCa>tTa	p.S1110L	GRIN2A_ENST00000562109.1_Missense_Mutation_p.S1110L|GRIN2A_ENST00000404927.2_Missense_Mutation_p.S1110L|GRIN2A_ENST00000330684.3_Missense_Mutation_p.S1110L|GRIN2A_ENST00000535259.1_Missense_Mutation_p.S953L|GRIN2A_ENST00000396575.2_Missense_Mutation_p.S1110L	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	1110					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	AGGGGAGCTTGATTTGGTTTT	0.478													34	212					0	0	1	0	0	A	9858072	G	A	9858072	3	1	420	1	0	0	0	0	1	0	0	0	6820	1294	45	2	1069	2	GRIN2A	16	9858072	Missense_Mutation	SNP	G	TCGA-S9-A6U6-01A-12D-A33T-08		9858072	80496681	43	34283											
CCDC135	84229	broad.mit.edu	37	16	57761287	57761287	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr16:57761287G>A	ENST00000360716.3	+	16	2383	c.2162G>A	c.(2161-2163)cGg>cAg	p.R721Q	CCDC135_ENST00000394337.4_Missense_Mutation_p.R721Q|CCDC135_ENST00000336825.8_Missense_Mutation_p.R656Q			Q8IY82	CC135_HUMAN	coiled-coil domain containing 135	721						cytoplasm				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						GACACCAAGCGGAATGAGAAG	0.567													4	184					0	0	1	0	0	A	57761287	G	A	57761287	3	1	420	1	0	0	0	0	1	0	0	0	2787	1116	39	1	2216	1	CCDC135	16	57761287	Missense_Mutation	SNP	G	TCGA-S9-A6U6-01A-12D-A33T-08	47903215	57761287	32593466	44	34284											
TP53	7157	broad.mit.edu	37	17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	rs121913343		TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr17:7577121G>A	ENST00000420246.2	-	8	949	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000269305.4_Missense_Mutation_p.R273C|TP53_ENST00000445888.2_Missense_Mutation_p.R273C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	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).		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.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			47	7					0	0	1	0	0	A	7577121	G	A	7577121	3	1	420	1	0	0	0	0	1	0	0	0	16442	1087	38	1	469	1	TP53	17	7577121	Missense_Mutation	SNP	G	TCGA-S9-A6U6-01A-12D-A33T-08		7577121	73618089	45	34285											
ANKRD29	147463	broad.mit.edu	37	18	21199494	21199494	+	Splice_Site	SNP	C	C	T			TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr18:21199494C>T	ENST00000592179.1	-	7	782		c.e7+1		ANKRD29_ENST00000586511.1_5'UTR|ANKRD29_ENST00000284207.7_Splice_Site|ANKRD29_ENST00000322980.9_Splice_Site	NM_173505.2	NP_775776.2	Q8N6D5	ANR29_HUMAN	ankyrin repeat domain 29											breast(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|skin(1)	13	all_cancers(21;5.07e-05)|all_epithelial(16;2.49e-07)|Lung NSC(20;0.00211)|all_lung(20;0.00676)|Colorectal(14;0.0202)|Ovarian(20;0.127)					CGGGCACTCACGTTCCGCGCA	0.687													6	22					0	0	1	0	0	T	21199494	C	T	21199494	5	4	420	1	0	0	0	0	0	0	1	0	653	550	19	1	293	1	ANKRD29	18	21199494	Splice_Site	SNP	C	TCGA-S9-A6U6-01A-12D-A33T-08		21199494	56877754	46	34286											
BSG	682	broad.mit.edu	37	19	580702	580702	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr19:580702G>A	ENST00000333511.3	+	5	782	c.712G>A	c.(712-714)Gcc>Acc	p.A238T	BSG_ENST00000346916.4_Missense_Mutation_p.A58T|BSG_ENST00000353555.4_Missense_Mutation_p.A122T|BSG_ENST00000545507.2_Missense_Mutation_p.A29T	NM_001728.3	NP_001719.2	P35613	BASI_HUMAN	basigin	238	Ig-like V-type.				blood coagulation|cell surface receptor linked signaling pathway|leukocyte migration|pyruvate metabolic process	Golgi membrane|integral to membrane|melanosome	lactate transmembrane transporter activity|mannose binding|protein binding			central_nervous_system(1)|endometrium(3)|lung(1)	5		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)		GGGGGAGACGGCCATGCTGGT	0.602													14	107					0	0	1	0	0	A	580702	G	A	580702	3	1	420	1	0	0	0	0	1	0	0	0	1531	1203	42	2	766	2	BSG	19	580702	Missense_Mutation	SNP	G	TCGA-S9-A6U6-01A-12D-A33T-08		580702	58548281	47	34287											
COMP	1311	broad.mit.edu	37	19	18896653	18896653	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr19:18896653C>T	ENST00000542601.2	-	13	1788	c.1399G>A	c.(1399-1401)Gtg>Atg	p.V467M	COMP_ENST00000425807.1_Missense_Mutation_p.V447M|COMP_ENST00000222271.2_Missense_Mutation_p.V500M			P49747	COMP_HUMAN	cartilage oligomeric matrix protein	500					anti-apoptosis|apoptosis|cell adhesion|limb development	extracellular space|proteinaceous extracellular matrix	calcium ion binding|collagen binding|extracellular matrix structural constituent|heparan sulfate proteoglycan binding|heparin binding			breast(6)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						ACGTCGCCCACGCCGTCCCCT	0.672													35	94					0	0	1	0	0	T	18896653	C	T	18896653	3	4	420	1	0	0	0	0	1	0	0	0	3747	536	19	1	799	1	COMP	19	18896653	Missense_Mutation	SNP	C	TCGA-S9-A6U6-01A-12D-A33T-08	18315951	18896653	40232330	48	34288											
LGALS4	3960	broad.mit.edu	37	19	39299489	39299489	+	Silent	SNP	C	C	T			TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr19:39299489C>T	ENST00000307751.4	-	3	711	c.234G>A	c.(232-234)acG>acA	p.T78T	LGALS4_ENST00000597803.1_Intron	NM_006149.3	NP_006140.1	P56470	LEG4_HUMAN	lectin, galactoside-binding, soluble, 4	78	Galectin 1.				cell adhesion	cytosol|plasma membrane	sugar binding			NS(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17	all_cancers(60;1.02e-05)|Ovarian(47;0.0454)		Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)			CGCCCTGCAACGTGTTGAAGA	0.582													6	143					0	0	1	0	0	T	39299489	C	T	39299489	2	4	420	1	0	0	0	0	0	0	0	1	8784	523	19	1		1	LGALS4	19	39299489	Silent	SNP	C	TCGA-S9-A6U6-01A-12D-A33T-08	20402836	39299489	19829494	49	34289											
PSG6	5675	broad.mit.edu	37	19	43411250	43411250	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr19:43411250G>A	ENST00000187910.2	-	5	1129	c.1064C>T	c.(1063-1065)gCg>gTg	p.A355V	PSG6_ENST00000402603.4_Missense_Mutation_p.A262V|PSG6_ENST00000292125.2_Missense_Mutation_p.A355V	NM_001031850.3	NP_001027020.1			pregnancy specific beta-1-glycoprotein 6											central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(19)|ovary(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44		Prostate(69;0.00899)				GTTAGAGTCCGCAAAGCAGGA	0.448													5	551					0	0	1	0	0	A	43411250	G	A	43411250	3	1	420	1	0	0	0	0	1	0	0	0	12708	1087	38	1	290	1	PSG6	19	43411250	Missense_Mutation	SNP	G	TCGA-S9-A6U6-01A-12D-A33T-08	4111761	43411250	15717733	50	34290											
NRSN2	80023	broad.mit.edu	37	20	330364	330364	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr20:330364G>A	ENST00000382291.3	+	3	317	c.77G>A	c.(76-78)cGc>cAc	p.R26H	NRSN2_ENST00000382285.2_Missense_Mutation_p.R26H|NRSN2_ENST00000492242.1_Intron|NRSN2_ENST00000608736.1_Missense_Mutation_p.R26H	NM_024958.2	NP_079234.1	Q9GZP1	NRSN2_HUMAN	neurensin 2	26						integral to membrane|plasma membrane|transport vesicle				endometrium(1)|large_intestine(2)|lung(4)|urinary_tract(1)	8		all_cancers(10;0.0834)				TATGGGGTCCGCTCCTACCTG	0.662													20	120					0	0	1	0	0	A	330364	G	A	330364	3	1	420	1	0	0	0	0	1	0	0	0	10711	1087	38	1	79	1	NRSN2	20	330364	Missense_Mutation	SNP	G	TCGA-S9-A6U6-01A-12D-A33T-08		330364	62695156	51	34291											
ANGPT4	51378	broad.mit.edu	37	20	865871	865871	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr20:865871G>A	ENST00000381922.3	-	4	787	c.685C>T	c.(685-687)Cgc>Tgc	p.R229C	ANGPT4_ENST00000546022.1_Missense_Mutation_p.R229C	NM_015985.2	NP_057069.1	Q9Y264	ANGP4_HUMAN	angiopoietin 4	229					anti-apoptosis|blood coagulation|cellular response to hypoxia|leukocyte migration|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|signal transduction	extracellular space	receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	27						GCGCTCTGGCGGCTCAGCGTG	0.672													7	14					0	0	1	0	0	A	865871	G	A	865871	3	1	420	1	0	0	0	0	1	0	0	0	608	1116	39	1	850	1	ANGPT4	20	865871	Missense_Mutation	SNP	G	TCGA-S9-A6U6-01A-12D-A33T-08	535507	865871	62159649	52	34292											
NCOA3	8202	broad.mit.edu	37	20	46281698	46281698	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr20:46281698C>T	ENST00000372004.3	+	22	4349	c.4133C>T	c.(4132-4134)gCc>gTc	p.A1378V	NCOA3_ENST00000341724.6_Missense_Mutation_p.A1308V|NCOA3_ENST00000371998.3_Missense_Mutation_p.A1382V|NCOA3_ENST00000371997.3_Missense_Mutation_p.A1373V	NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2	NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1	Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	1382					androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding			breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						CAGCAGTTTGCCCACCAGGGG	0.478													4	240					0	0	1	0	0	T	46281698	C	T	46281698	3	4	420	1	0	0	0	0	1	0	0	0	10277	739	26	2	4253	2	NCOA3	20	46281698	Missense_Mutation	SNP	C	TCGA-S9-A6U6-01A-12D-A33T-08	45415827	46281698	16743822	53	34293											
ZNF512B	57473	broad.mit.edu	37	20	62597735	62597735	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr20:62597735G>A	ENST00000450537.1	-	5	853	c.793C>T	c.(793-795)Ccg>Tcg	p.P265S	ZNF512B_ENST00000369888.1_Missense_Mutation_p.P265S|ZNF512B_ENST00000217130.3_Missense_Mutation_p.P265S			Q96KM6	Z512B_HUMAN	zinc finger protein 512B	265					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1)	33	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					TTGGTGACCGGCACAGACTTG	0.572													7	894					0	0	1	0	0	A	62597735	G	A	62597735	3	1	420	1	0	0	0	0	1	0	0	0	18014	1203	42	2	1937	2	ZNF512B	20	62597735	Missense_Mutation	SNP	G	TCGA-S9-A6U6-01A-12D-A33T-08	16316037	62597735	427785	54	34294											
SMC1B	27127	broad.mit.edu	37	22	45757767	45757767	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr22:45757767A>G	ENST00000357450.4	-	17	2659	c.2660T>C	c.(2659-2661)gTt>gCt	p.V887A	SMC1B_ENST00000404354.3_Missense_Mutation_p.V887A	NM_148674.3	NP_683515.3	Q8NDV3	SMC1B_HUMAN	structural maintenance of chromosomes 1B	887					chromosome organization|meiosis	chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus	ATP binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		TTGAGTTTGAACTTTCTCGGC	0.418													19	332					0	0	1	0	0	G	45757767	A	G	45757767	3	3	420	1	0	0	0	0	1	0	0	0	14836	43	2	3	1083	3	SMC1B	22	45757767	Missense_Mutation	SNP	A	TCGA-S9-A6U6-01A-12D-A33T-08		45757767	5546799	55	34295											
ATRX	546	broad.mit.edu	37	X	76918997	76918998	+	Frame_Shift_Ins	INS	-	-	A			TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chrX:76918997_76918998insA	ENST00000373344.5	-	12	4207_4208	c.3993_3994insT	c.(3991-3996)tctaagfs	p.K1332fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Ins_p.K1294fs	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1332					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)	CTTGGCTTCTTAGATTCTTCAG	0.351			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						56	13	---	---	---	---						A	76918998	-	A	76918997	7	5	420	1	0	1	1	0	0	0	0	0	1206	1763	61	0	3580	0	ATRX	23	76918997	Frame_Shift_Ins	INS	-	TCGA-S9-A6U6-01A-12D-A33T-08		76918997	78351563	56	34296											
E2F2	1870	broad.mit.edu	37	1	23848548	23848548	+	Splice_Site	SNP	G	G	A			TCGA-S9-A6U8-01A-21D-A33T-08	TCGA-S9-A6U8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4922ebd-a1dd-4055-bfb2-b2307252c666	173c8320-f449-4c23-ad2d-089f1e14323a	g.chr1:23848548G>A	ENST00000361729.2	-	3	785	c.359C>T	c.(358-360)aCc>aTc	p.T120I		NM_004091.3	NP_004082.1	Q14209	E2F2_HUMAN	E2F transcription factor 2	120					G1 phase of mitotic cell cycle|transcription initiation from RNA polymerase II promoter	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	p.T120I(1)		endometrium(4)|large_intestine(2)|lung(1)|ovary(3)|skin(2)|urinary_tract(1)	13		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.52e-24)|Colorectal(126;6.25e-08)|COAD - Colon adenocarcinoma(152;3.42e-06)|GBM - Glioblastoma multiforme(114;8.98e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00102)|KIRC - Kidney renal clear cell carcinoma(1967;0.00366)|STAD - Stomach adenocarcinoma(196;0.0132)|READ - Rectum adenocarcinoma(331;0.0652)|Lung(427;0.0888)|LUSC - Lung squamous cell carcinoma(448;0.19)		GGATTTGGGGGCTGAAGAAGA	0.587													27	41					0	0	1	0	0	A	23848548	G	A	23848548	5	1	421	1	0	0	0	0	0	0	1	0	4893	1217	42	2	974	2	E2F2	1	23848548	Splice_Site	SNP	G	TCGA-S9-A6U8-01A-21D-A33T-08		23848548	225402073	1	34297											
CR1	1378	broad.mit.edu	37	1	207758074	207758074	+	Nonsense_Mutation	SNP	G	G	T			TCGA-S9-A6U8-01A-21D-A33T-08	TCGA-S9-A6U8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4922ebd-a1dd-4055-bfb2-b2307252c666	173c8320-f449-4c23-ad2d-089f1e14323a	g.chr1:207758074G>T	ENST00000367049.4	+	33	5383	c.5383G>T	c.(5383-5385)Gaa>Taa	p.E1795*	RP11-78B10.2_ENST00000597497.1_RNA|CR1_ENST00000367051.1_Nonsense_Mutation_p.E1345*|CR1_ENST00000400960.2_Nonsense_Mutation_p.E1345*|RP11-78B10.2_ENST00000596003.1_RNA|CR1_ENST00000367052.1_Nonsense_Mutation_p.E1345*|CR1_ENST00000367053.1_Nonsense_Mutation_p.E1345*	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	1345	Sushi 28.				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						CTATGGAAAAGAAATATCTTA	0.473													83	174					5.72486e-32	6.20194e-32	1	1	0	T	207758074	G	T	207758074	4	4	421	1	0	0	0	0	0	1	0	0	3863	943	33	4	5513	4	CR1	1	207758074	Nonsense_Mutation	SNP	G	TCGA-S9-A6U8-01A-21D-A33T-08	183909526	207758074	41492547	2	34298											
IDH1	3417	broad.mit.edu	37	2	209113113	209113113	+	Missense_Mutation	SNP	G	G	A	rs121913499		TCGA-S9-A6U8-01A-21D-A33T-08	TCGA-S9-A6U8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4922ebd-a1dd-4055-bfb2-b2307252c666	173c8320-f449-4c23-ad2d-089f1e14323a	g.chr2:209113113G>A	ENST00000415913.1	-	4	775	c.394C>T	c.(394-396)Cgt>Tgt	p.R132C	IDH1_ENST00000446179.1_Missense_Mutation_p.R132C|IDH1_ENST00000345146.2_Missense_Mutation_p.R132C	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		TAAGCATGACGACCTATGATG	0.398			Mis		gliobastoma								62	86					0	0	1	0	0	A	209113113	G	A	209113113	3	1	421	1	0	0	0	0	1	0	0	0	7538	1058	37	1	878	1	IDH1	2	209113113	Missense_Mutation	SNP	G	TCGA-S9-A6U8-01A-21D-A33T-08		209113113	34086260	3	34299											
C4orf21	55345	broad.mit.edu	37	4	113540265	113540265	+	Silent	SNP	T	T	C			TCGA-S9-A6U8-01A-21D-A33T-08	TCGA-S9-A6U8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4922ebd-a1dd-4055-bfb2-b2307252c666	173c8320-f449-4c23-ad2d-089f1e14323a	g.chr4:113540265T>C	ENST00000505019.1	-	6	1058	c.933A>G	c.(931-933)ttA>ttG	p.L311L	C4orf21_ENST00000445203.2_Silent_p.L280L|C4orf21_ENST00000309071.5_Silent_p.L311L	NM_018392.4	NP_060862.3	Q86YA3	CD021_HUMAN	chromosome 4 open reading frame 21	311										breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		GCTGGTAGTATAAATTTTCTG	0.368													7	297					0	0	1	0	0	C	113540265	T	C	113540265	2	2	421	1	0	0	0	0	0	0	0	1	2269	1403	49	3		3	C4orf21	4	113540265	Silent	SNP	T	TCGA-S9-A6U8-01A-21D-A33T-08		113540265	77614011	4	34300											
BTNL8	79908	broad.mit.edu	37	5	180335642	180335642	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6U8-01A-21D-A33T-08	TCGA-S9-A6U8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4922ebd-a1dd-4055-bfb2-b2307252c666	173c8320-f449-4c23-ad2d-089f1e14323a	g.chr5:180335642G>A	ENST00000231229.4	+	2	340	c.106G>A	c.(106-108)Gca>Aca	p.A36T	BTNL8_ENST00000400707.3_Intron|BTNL8_ENST00000511704.1_Intron|BTNL8_ENST00000508408.1_Missense_Mutation_p.A36T|BTNL8_ENST00000340184.4_Missense_Mutation_p.A36T	NM_001159708.1|NM_024850.2	NP_001153180.1|NP_079126.1	Q6UX41	BTNL8_HUMAN	butyrophilin-like 8	36	Ig-like V-type 1.					integral to membrane				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	28	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGGGGAGGACGCAGCATTCTC	0.537													27	55					0	0	1	0	0	A	180335642	G	A	180335642	3	1	421	1	0	0	0	0	1	0	0	0	1570	1087	38	1	138	1	BTNL8	5	180335642	Missense_Mutation	SNP	G	TCGA-S9-A6U8-01A-21D-A33T-08		180335642	579618	5	34301											
KATNA1	11104	broad.mit.edu	37	6	149922761	149922761	+	Missense_Mutation	SNP	G	G	C			TCGA-S9-A6U8-01A-21D-A33T-08	TCGA-S9-A6U8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4922ebd-a1dd-4055-bfb2-b2307252c666	173c8320-f449-4c23-ad2d-089f1e14323a	g.chr6:149922761G>C	ENST00000367411.2	-	7	1115	c.857C>G	c.(856-858)tCt>tGt	p.S286C	KATNA1_ENST00000494504.1_5'UTR|KATNA1_ENST00000335643.8_Missense_Mutation_p.S210C|KATNA1_ENST00000335647.5_Missense_Mutation_p.S286C	NM_007044.3	NP_008975.1	O75449	KTNA1_HUMAN	katanin p60 (ATPase containing) subunit A 1	286					cell division|interphase of mitotic cell cycle|mitosis	microtubule|microtubule organizing center|spindle pole	ATP binding|microtubule binding|microtubule-severing ATPase activity|protein heterodimerization activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	12		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;2.95e-12)|GBM - Glioblastoma multiforme(68;0.173)		AAGCTTCTCAGATTCTCCTCT	0.408													6	203					0	0	1	0	0	C	149922761	G	C	149922761	3	2	421	1	0	0	0	0	1	0	0	0	8028	942	33	4	638	4	KATNA1	6	149922761	Missense_Mutation	SNP	G	TCGA-S9-A6U8-01A-21D-A33T-08		149922761	21192306	6	34302											
TNRC18	84629	broad.mit.edu	37	7	5360235	5360235	+	Nonsense_Mutation	SNP	G	G	C			TCGA-S9-A6U8-01A-21D-A33T-08	TCGA-S9-A6U8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4922ebd-a1dd-4055-bfb2-b2307252c666	173c8320-f449-4c23-ad2d-089f1e14323a	g.chr7:5360235G>C	ENST00000399537.4	-	23	6912	c.6564C>G	c.(6562-6564)taC>taG	p.Y2188*	TNRC18_ENST00000430969.1_Nonsense_Mutation_p.Y2188*			O15417	TNC18_HUMAN	trinucleotide repeat containing 18	2188							DNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		CCACCACGCGGTATCTGTAGG	0.672													3	50					0	0	1	0	0	C	5360235	G	C	5360235	4	2	421	1	0	0	0	0	0	1	0	0	16399	1256	44	5	2374	5	TNRC18	7	5360235	Nonsense_Mutation	SNP	G	TCGA-S9-A6U8-01A-21D-A33T-08		5360235	153778428	7	34303											
CSMD3	114788	broad.mit.edu	37	8	113301656	113301656	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6U8-01A-21D-A33T-08	TCGA-S9-A6U8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4922ebd-a1dd-4055-bfb2-b2307252c666	173c8320-f449-4c23-ad2d-089f1e14323a	g.chr8:113301656C>T	ENST00000297405.5	-	57	9330	c.9086G>A	c.(9085-9087)gGc>gAc	p.G3029D	CSMD3_ENST00000455883.2_Missense_Mutation_p.G2860D|CSMD3_ENST00000352409.3_Missense_Mutation_p.G2959D|CSMD3_ENST00000343508.3_Missense_Mutation_p.G2989D	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3029	Sushi 21.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TGATGACTGGCCTAAAAGGGA	0.463										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			66	113					0	0	1	0	0	T	113301656	C	T	113301656	3	4	421	1	0	0	0	0	1	0	0	0	3971	739	26	2	2097	2	CSMD3	8	113301656	Missense_Mutation	SNP	C	TCGA-S9-A6U8-01A-21D-A33T-08		113301656	33062366	8	34304											
SMARCA2	6595	broad.mit.edu	37	9	2084102	2084102	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6U8-01A-21D-A33T-08	TCGA-S9-A6U8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4922ebd-a1dd-4055-bfb2-b2307252c666	173c8320-f449-4c23-ad2d-089f1e14323a	g.chr9:2084102G>A	ENST00000382203.1	+	17	2641	c.2432G>A	c.(2431-2433)cGt>cAt	p.R811H	SMARCA2_ENST00000357248.2_Missense_Mutation_p.R811H|SMARCA2_ENST00000382194.1_Missense_Mutation_p.R811H|SMARCA2_ENST00000349721.2_Missense_Mutation_p.R811H			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	811	Helicase ATP-binding.				chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		CCTGCCATGCGTCGCTCCCTT	0.403													34	41					0	0	1	0	0	A	2084102	G	A	2084102	3	1	421	1	0	0	0	0	1	0	0	0	14823	1145	40	1	2494	1	SMARCA2	9	2084102	Missense_Mutation	SNP	G	TCGA-S9-A6U8-01A-21D-A33T-08		2084102	139129329	9	34305											
PDCL	5082	broad.mit.edu	37	9	125582829	125582829	+	Missense_Mutation	SNP	C	C	G			TCGA-S9-A6U8-01A-21D-A33T-08	TCGA-S9-A6U8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4922ebd-a1dd-4055-bfb2-b2307252c666	173c8320-f449-4c23-ad2d-089f1e14323a	g.chr9:125582829C>G	ENST00000259467.4	-	4	606	c.441G>C	c.(439-441)gaG>gaC	p.E147D		NM_005388.4	NP_005379.3	Q13371	PHLP_HUMAN	phosducin-like	147					signal transduction|visual perception					endometrium(1)|large_intestine(2)|lung(5)|skin(1)|stomach(1)	10						GCTGCCGCATCTCTTCCATTC	0.473													7	202					0	0	1	0	0	G	125582829	C	G	125582829	3	3	421	1	0	0	0	0	1	0	0	0	11673	912	32	4	468	4	PDCL	9	125582829	Missense_Mutation	SNP	C	TCGA-S9-A6U8-01A-21D-A33T-08	123498727	125582829	15630602	10	34306											
AKAP3	10566	broad.mit.edu	37	12	4736590	4736590	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6U8-01A-21D-A33T-08	TCGA-S9-A6U8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4922ebd-a1dd-4055-bfb2-b2307252c666	173c8320-f449-4c23-ad2d-089f1e14323a	g.chr12:4736590G>A	ENST00000545990.2	-	5	2002	c.1478C>T	c.(1477-1479)tCc>tTc	p.S493F	AKAP3_ENST00000228850.1_Missense_Mutation_p.S493F|RP11-500M8.7_ENST00000536588.1_Intron	NM_001278309.1	NP_001265238.1	O75969	AKAP3_HUMAN	A kinase (PRKA) anchor protein 3	493					acrosome reaction|cellular component movement	acrosomal vesicle	protein kinase A binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	51						GTACTCAAAGGAAATGTCTGA	0.453													5	77					0	0	1	0	0	A	4736590	G	A	4736590	3	1	421	1	0	0	0	0	1	0	0	0	449	1174	41	2	1091	2	AKAP3	12	4736590	Missense_Mutation	SNP	G	TCGA-S9-A6U8-01A-21D-A33T-08		4736590	129115305	11	34307											
KNTC1	9735	broad.mit.edu	37	12	123071291	123071291	+	Silent	SNP	C	C	T			TCGA-S9-A6U8-01A-21D-A33T-08	TCGA-S9-A6U8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4922ebd-a1dd-4055-bfb2-b2307252c666	173c8320-f449-4c23-ad2d-089f1e14323a	g.chr12:123071291C>T	ENST00000333479.7	+	38	3894	c.3717C>T	c.(3715-3717)tgC>tgT	p.C1239C	KNTC1_ENST00000450485.2_Intron	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1	1239					cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole	protein binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		TGCCATACTGCTCCCTTAATG	0.294													4	93					0	0	1	0	0	T	123071291	C	T	123071291	2	4	421	1	0	0	0	0	0	0	0	1	8471	805	28	2		2	KNTC1	12	123071291	Silent	SNP	C	TCGA-S9-A6U8-01A-21D-A33T-08	118334701	123071291	10780604	12	34308											
SPERT	220082	broad.mit.edu	37	13	46287414	46287414	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6U8-01A-21D-A33T-08	TCGA-S9-A6U8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4922ebd-a1dd-4055-bfb2-b2307252c666	173c8320-f449-4c23-ad2d-089f1e14323a	g.chr13:46287414C>T	ENST00000378966.3	+	2	562	c.146C>T	c.(145-147)gCg>gTg	p.A49V	SPERT_ENST00000310521.1_Missense_Mutation_p.A85V			Q8NA61	SPERT_HUMAN	spermatid associated	85						cytoplasmic membrane-bounded vesicle				NS(1)|central_nervous_system(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	15		Breast(56;0.000819)|Lung NSC(96;0.00227)|Prostate(109;0.00703)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;7.26e-05)		CGCAGGATGGCGAGCCAGCAC	0.672													47	72					0	0	1	0	0	T	46287414	C	T	46287414	3	4	421	1	0	0	0	0	1	0	0	0	15095	768	27	1	264	1	SPERT	13	46287414	Missense_Mutation	SNP	C	TCGA-S9-A6U8-01A-21D-A33T-08		46287414	68882464	13	34309											
TRIP11	9321	broad.mit.edu	37	14	92472597	92472597	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6U8-01A-21D-A33T-08	TCGA-S9-A6U8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4922ebd-a1dd-4055-bfb2-b2307252c666	173c8320-f449-4c23-ad2d-089f1e14323a	g.chr14:92472597G>A	ENST00000267622.4	-	11	2096	c.1723C>T	c.(1723-1725)Cat>Tat	p.H575Y		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	575					transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		TTGGTTAAATGTAAATCATTT	0.318			T	PDGFRB	AML								71	129					0	0	1	0	0	A	92472597	G	A	92472597	3	1	421	1	0	0	0	0	1	0	0	0	16616	1377	48	2	4260	2	TRIP11	14	92472597	Missense_Mutation	SNP	G	TCGA-S9-A6U8-01A-21D-A33T-08		92472597	14876943	14	34310											
SORD	6652	broad.mit.edu	37	15	45357562	45357562	+	Silent	SNP	A	A	G			TCGA-S9-A6U8-01A-21D-A33T-08	TCGA-S9-A6U8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4922ebd-a1dd-4055-bfb2-b2307252c666	173c8320-f449-4c23-ad2d-089f1e14323a	g.chr15:45357562A>G	ENST00000267814.9	+	5	699	c.519A>G	c.(517-519)ggA>ggG	p.G173G	SORD_ENST00000558580.1_Silent_p.G152G	NM_003104.5	NP_003095.2	Q00796	DHSO_HUMAN	sorbitol dehydrogenase	173					fructose biosynthetic process|glucose metabolic process|L-xylitol catabolic process|sorbitol catabolic process|sperm motility	cilium|extracellular space|flagellum|membrane fraction|mitochondrial membrane|soluble fraction	L-iditol 2-dehydrogenase activity|NAD binding|sugar binding|zinc ion binding			endometrium(2)|large_intestine(3)|lung(4)	9		all_cancers(109;3.43e-12)|all_epithelial(112;2.33e-10)|Lung NSC(122;6.01e-07)|all_lung(180;4.38e-06)|Melanoma(134;0.0122)		all cancers(107;1.6e-18)|GBM - Glioblastoma multiforme(94;4.95e-07)|COAD - Colon adenocarcinoma(120;0.0704)|Colorectal(133;0.0706)	NADH(DB00157)	TTACCCTGGGACACAAGGTCC	0.562													49	113					0	0	1	0	0	G	45357562	A	G	45357562	2	3	421	1	0	0	0	0	0	0	0	1	14987	262	10	3		3	SORD	15	45357562	Silent	SNP	A	TCGA-S9-A6U8-01A-21D-A33T-08		45357562	57173830	15	34311											
ACAN	176	broad.mit.edu	37	15	89417087	89417087	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6U8-01A-21D-A33T-08	TCGA-S9-A6U8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4922ebd-a1dd-4055-bfb2-b2307252c666	173c8320-f449-4c23-ad2d-089f1e14323a	g.chr15:89417087C>T	ENST00000439576.2	+	17	7722	c.7348C>T	c.(7348-7350)Ccc>Tcc	p.P2450S	ACAN_ENST00000561243.1_Missense_Mutation_p.P2450S|ACAN_ENST00000352105.7_Intron|ACAN_ENST00000559004.1_Missense_Mutation_p.P2412S	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	2450					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			CTGCGGAGAGCCCCCTGTGGT	0.592													29	52					0	0	1	0	0	T	89417087	C	T	89417087	3	4	421	1	0	0	0	0	1	0	0	0	117	739	26	2	7410	2	ACAN	15	89417087	Missense_Mutation	SNP	C	TCGA-S9-A6U8-01A-21D-A33T-08	44059525	89417087	13114305	16	34312											
NKD1	85407	broad.mit.edu	37	16	50666305	50666305	+	Missense_Mutation	SNP	C	C	G			TCGA-S9-A6U8-01A-21D-A33T-08	TCGA-S9-A6U8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4922ebd-a1dd-4055-bfb2-b2307252c666	173c8320-f449-4c23-ad2d-089f1e14323a	g.chr16:50666305C>G	ENST00000268459.3	+	9	1033	c.809C>G	c.(808-810)tCc>tGc	p.S270C		NM_033119.4	NP_149110.1	Q969G9	NKD1_HUMAN	naked cuticle homolog 1 (Drosophila)	270					Wnt receptor signaling pathway	cytoplasm|plasma membrane	calcium ion binding|protein binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|prostate(1)|urinary_tract(2)	23		all_cancers(37;0.229)		GBM - Glioblastoma multiforme(240;0.243)		AACTACACGTCCCAATTTGGG	0.597													36	44					0	0	1	0	0	G	50666305	C	G	50666305	3	3	421	1	0	0	0	0	1	0	0	0	10488	855	30	5	843	5	NKD1	16	50666305	Missense_Mutation	SNP	C	TCGA-S9-A6U8-01A-21D-A33T-08		50666305	39688448	17	34313											
TP53	7157	broad.mit.edu	37	17	7577570	7577570	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6U8-01A-21D-A33T-08	TCGA-S9-A6U8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4922ebd-a1dd-4055-bfb2-b2307252c666	173c8320-f449-4c23-ad2d-089f1e14323a	g.chr17:7577570C>T	ENST00000420246.2	-	7	843	c.711G>A	c.(709-711)atG>atA	p.M237I	TP53_ENST00000455263.2_Missense_Mutation_p.M237I|TP53_ENST00000269305.4_Missense_Mutation_p.M237I|TP53_ENST00000445888.2_Missense_Mutation_p.M237I|TP53_ENST00000359597.4_Missense_Mutation_p.M237I|TP53_ENST00000413465.2_Missense_Mutation_p.M237I	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	237	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).		M -> I (in LFS; germline mutation and in sporadic cancers; somatic mutation).|M -> K (in sporadic cancers; somatic mutation).|M -> L (in sporadic cancers; somatic mutation).|M -> R (in sporadic cancers; somatic mutation).|M -> T (in sporadic cancers; somatic mutation).|M -> V (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.M237I(109)|p.0?(8)|p.?(5)|p.M144I(4)|p.M237_N239delMCN(4)|p.Y236_M237delYM(1)|p.H233fs*6(1)|p.M144_N146delMCN(1)|p.Y236_M243delYMCNSSCM(1)|p.C238fs*2(1)|p.V225fs*23(1)|p.M237_C238insX(1)|p.H233_C242del10(1)|p.M237fs*1(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)		AACTGTTACACATGTAGTTGT	0.567		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)			96	27					0	0	1	0	0	T	7577570	C	T	7577570	3	4	421	1	0	0	0	0	1	0	0	0	16442	478	17	2	579	2	TP53	17	7577570	Missense_Mutation	SNP	C	TCGA-S9-A6U8-01A-21D-A33T-08		7577570	73617640	18	34314											
MUC16	94025	broad.mit.edu	37	19	9073155	9073155	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6U8-01A-21D-A33T-08	TCGA-S9-A6U8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4922ebd-a1dd-4055-bfb2-b2307252c666	173c8320-f449-4c23-ad2d-089f1e14323a	g.chr19:9073155G>A	ENST00000397910.4	-	3	14494	c.14291C>T	c.(14290-14292)cCg>cTg	p.P4764L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4766	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.P4764L(2)|p.P397L(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTGCCATTGCGGTGTGAAAGC	0.488													69	106					0	0	1	0	0	A	9073155	G	A	9073155	3	1	421	1	0	0	0	0	1	0	0	0	10021	1116	39	1	29560	1	MUC16	19	9073155	Missense_Mutation	SNP	G	TCGA-S9-A6U8-01A-21D-A33T-08		9073155	50055828	19	34315											
SIGLEC9	27180	broad.mit.edu	37	19	51628302	51628302	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6U8-01A-21D-A33T-08	TCGA-S9-A6U8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4922ebd-a1dd-4055-bfb2-b2307252c666	173c8320-f449-4c23-ad2d-089f1e14323a	g.chr19:51628302C>T	ENST00000440804.3	+	1	138	c.71C>T	c.(70-72)aCg>aTg	p.T24M	SIGLEC9_ENST00000250360.3_Missense_Mutation_p.T24M	NM_001198558.1	NP_001185487.1	Q9Y336	SIGL9_HUMAN	sialic acid binding Ig-like lectin 9	24	Ig-like V-type.				cell adhesion|cell surface receptor linked signaling pathway	integral to plasma membrane	sugar binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	45		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)		AAACTGCTGACGATGCAGAGT	0.617													34	60					0	0	1	0	0	T	51628302	C	T	51628302	3	4	421	1	0	0	0	0	1	0	0	0	14370	536	19	1	73	1	SIGLEC9	19	51628302	Missense_Mutation	SNP	C	TCGA-S9-A6U8-01A-21D-A33T-08	42555147	51628302	7500681	20	34316											
KIAA1755	85449	broad.mit.edu	37	20	36874469	36874469	+	Silent	SNP	G	G	A			TCGA-S9-A6U8-01A-21D-A33T-08	TCGA-S9-A6U8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4922ebd-a1dd-4055-bfb2-b2307252c666	173c8320-f449-4c23-ad2d-089f1e14323a	g.chr20:36874469G>A	ENST00000279024.4	-	2	334	c.63C>T	c.(61-63)ttC>ttT	p.F21F		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	21										breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				CTGTGGCCTCGAAAGGAGGAT	0.602													18	40					0	0	1	0	0	A	36874469	G	A	36874469	2	1	421	1	0	0	0	0	0	0	0	1	8299	1049	37	1		1	KIAA1755	20	36874469	Silent	SNP	G	TCGA-S9-A6U8-01A-21D-A33T-08		36874469	26151051	21	34317											
ATRX	546	broad.mit.edu	37	X	76813106	76813106	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A6U8-01A-21D-A33T-08	TCGA-S9-A6U8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4922ebd-a1dd-4055-bfb2-b2307252c666	173c8320-f449-4c23-ad2d-089f1e14323a	g.chrX:76813106T>C	ENST00000373344.5	-	30	6729	c.6515A>G	c.(6514-6516)gAa>gGa	p.E2172G	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.E2134G	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	2172	Helicase C-terminal.				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)	AATCTTATCTTCCATGGTTCC	0.338			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						90	36					0	0	1	0	0	C	76813106	T	C	76813106	3	2	421	1	0	0	0	0	1	0	0	0	1206	1783	62	3	987	3	ATRX	23	76813106	Missense_Mutation	SNP	T	TCGA-S9-A6U8-01A-21D-A33T-08		76813106	78457454	22	34318											
MAN1C1	57134	broad.mit.edu	37	1	26104708	26104708	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6U9-01A-11D-A32B-08	TCGA-S9-A6U9-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b7b1a9-6595-49c9-a355-1429cff9701f	8e7599d0-823a-472b-8d6c-38730ad5fd1a	g.chr1:26104708G>A	ENST00000374332.4	+	9	1700	c.1370G>A	c.(1369-1371)gGc>gAc	p.G457D	MAN1C1_ENST00000263979.3_Missense_Mutation_p.G277D|MAN1C1_ENST00000374329.1_Missense_Mutation_p.G228D	NM_020379.2	NP_065112.1	Q9NR34	MA1C1_HUMAN	mannosidase, alpha, class 1C, member 1	457					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(7)|pancreas(1)|prostate(1)|skin(2)	25		Colorectal(325;3.78e-05)|Lung NSC(340;0.000181)|all_lung(284;0.000245)|Renal(390;0.000714)|Ovarian(437;0.00159)|Breast(348;0.0156)|Myeloproliferative disorder(586;0.0257)|all_neural(195;0.0515)|Esophageal squamous(538;0.232)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0574)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.15e-07)|COAD - Colon adenocarcinoma(152;4.31e-06)|STAD - Stomach adenocarcinoma(196;0.00125)|BRCA - Breast invasive adenocarcinoma(304;0.00141)|KIRC - Kidney renal clear cell carcinoma(1967;0.00146)|GBM - Glioblastoma multiforme(114;0.0149)|READ - Rectum adenocarcinoma(331;0.0803)		TTCTCCGGGGGCATGATCGCC	0.612													18	21					0	0	1	0	0	A	26104708	G	A	26104708	3	1	422	1	0	0	0	0	1	0	0	0	9263	1203	42	2	1404	2	MAN1C1	1	26104708	Missense_Mutation	SNP	G	TCGA-S9-A6U9-01A-11D-A32B-08		26104708	223145913	1	34319											
LRP8	7804	broad.mit.edu	37	1	53736990	53736990	+	Silent	SNP	G	G	A			TCGA-S9-A6U9-01A-11D-A32B-08	TCGA-S9-A6U9-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b7b1a9-6595-49c9-a355-1429cff9701f	8e7599d0-823a-472b-8d6c-38730ad5fd1a	g.chr1:53736990G>A	ENST00000306052.6	-	7	1136	c.1035C>T	c.(1033-1035)ggC>ggT	p.G345G	LRP8_ENST00000465675.1_5'UTR|LRP8_ENST00000347547.2_Silent_p.G175G|LRP8_ENST00000354412.3_Silent_p.G216G|LRP8_ENST00000371454.2_Silent_p.G345G	NM_004631.4	NP_004622.2	Q14114	LRP8_HUMAN	low density lipoprotein receptor-related protein 8, apolipoprotein e receptor	345	EGF-like 1.				cytokine-mediated signaling pathway|endocytosis|lipid metabolic process|platelet activation|proteolysis	caveola	calcium ion binding|very-low-density lipoprotein particle receptor activity			endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(1)	21						GTGAGCAGCCGCCATTGTTGT	0.612													5	59					0	0	1	0	0	A	53736990	G	A	53736990	2	1	422	1	0	0	0	0	0	0	0	1	9008	1074	38	1		1	LRP8	1	53736990	Silent	SNP	G	TCGA-S9-A6U9-01A-11D-A32B-08	27632282	53736990	195513631	2	34320											
SLC9A4	389015	broad.mit.edu	37	2	103141552	103141552	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6U9-01A-11D-A32B-08	TCGA-S9-A6U9-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b7b1a9-6595-49c9-a355-1429cff9701f	8e7599d0-823a-472b-8d6c-38730ad5fd1a	g.chr2:103141552C>T	ENST00000295269.4	+	10	2345	c.1888C>T	c.(1888-1890)Cgc>Tgc	p.R630C		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	630					regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						GATTCTGATCCGCCGCCAGAA	0.502													5	150					0	0	1	0	0	T	103141552	C	T	103141552	3	4	422	1	0	0	0	0	1	0	0	0	14771	652	23	1	1926	1	SLC9A4	2	103141552	Missense_Mutation	SNP	C	TCGA-S9-A6U9-01A-11D-A32B-08		103141552	140057821	3	34321											
IDH1	3417	broad.mit.edu	37	2	209113113	209113113	+	Missense_Mutation	SNP	G	G	A	rs121913499		TCGA-S9-A6U9-01A-11D-A32B-08	TCGA-S9-A6U9-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b7b1a9-6595-49c9-a355-1429cff9701f	8e7599d0-823a-472b-8d6c-38730ad5fd1a	g.chr2:209113113G>A	ENST00000415913.1	-	4	775	c.394C>T	c.(394-396)Cgt>Tgt	p.R132C	IDH1_ENST00000345146.2_Missense_Mutation_p.R132C|IDH1_ENST00000446179.1_Missense_Mutation_p.R132C	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		TAAGCATGACGACCTATGATG	0.398			Mis		gliobastoma								15	29					0	0	1	0	0	A	209113113	G	A	209113113	3	1	422	1	0	0	0	0	1	0	0	0	7538	1058	37	1	878	1	IDH1	2	209113113	Missense_Mutation	SNP	G	TCGA-S9-A6U9-01A-11D-A32B-08	105971561	209113113	34086260	4	34322											
WNT7A	7476	broad.mit.edu	37	3	13896294	13896294	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6U9-01A-11D-A32B-08	TCGA-S9-A6U9-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b7b1a9-6595-49c9-a355-1429cff9701f	8e7599d0-823a-472b-8d6c-38730ad5fd1a	g.chr3:13896294C>T	ENST00000285018.4	-	3	609	c.305G>A	c.(304-306)cGg>cAg	p.R102Q		NM_004625.3	NP_004616.2	O00755	WNT7A_HUMAN	wingless-type MMTV integration site family, member 7A	102					activation of JUN kinase activity|anterior/posterior pattern formation|canonical Wnt receptor signaling pathway|cell proliferation in forebrain|cellular response to transforming growth factor beta stimulus|central nervous system vasculogenesis|cerebellar granule cell differentiation|dorsal/ventral pattern formation|embryonic axis specification|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic leg morphogenesis|lens fiber cell development|negative regulation of neurogenesis|palate development|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of JNK cascade|positive regulation of synaptogenesis|positive regulation of transcription from RNA polymerase II promoter|regulation of axon diameter|satellite cell activation|satellite cell maintenance involved in skeletal muscle regeneration|sex differentiation|uterus development|Wnt receptor signaling pathway involved in wound healing, spreading of epidermal cells|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	cytokine activity|frizzled binding|receptor agonist activity|signal transducer activity			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	24						CGCAGCCTCCCGGCTCCCTGC	0.622													9	37					0	0	1	0	0	T	13896294	C	T	13896294	3	4	422	1	0	0	0	0	1	0	0	0	17454	652	23	1	752	1	WNT7A	3	13896294	Missense_Mutation	SNP	C	TCGA-S9-A6U9-01A-11D-A32B-08		13896294	184126136	5	34323											
ITIH1	3697	broad.mit.edu	37	3	52822010	52822010	+	Silent	SNP	C	C	T			TCGA-S9-A6U9-01A-11D-A32B-08	TCGA-S9-A6U9-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b7b1a9-6595-49c9-a355-1429cff9701f	8e7599d0-823a-472b-8d6c-38730ad5fd1a	g.chr3:52822010C>T	ENST00000273283.2	+	17	1957	c.1933C>T	c.(1933-1935)Ctg>Ttg	p.L645L	ITIH1_ENST00000542827.1_Intron|ITIH1_ENST00000540715.1_Silent_p.L503L|ITIH1_ENST00000537050.1_Silent_p.L357L|ITIH1_ENST00000405128.3_Silent_p.L11L	NM_002215.3	NP_002206.2	P19827	ITIH1_HUMAN	inter-alpha-trypsin inhibitor heavy chain 1	645	Hyaluronan-binding.				hyaluronan metabolic process|leukocyte activation	extracellular region	calcium ion binding|serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	52				BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)		AGCGTTCGTGCTGTCAGCCTT	0.607													34	58					0	0	1	0	0	T	52822010	C	T	52822010	2	4	422	1	0	0	0	0	0	0	0	1	7947	796	28	2		2	ITIH1	3	52822010	Silent	SNP	C	TCGA-S9-A6U9-01A-11D-A32B-08	38925716	52822010	145200420	6	34324											
DCUN1D4	23142	broad.mit.edu	37	4	52777312	52777312	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A6U9-01A-11D-A32B-08	TCGA-S9-A6U9-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b7b1a9-6595-49c9-a355-1429cff9701f	8e7599d0-823a-472b-8d6c-38730ad5fd1a	g.chr4:52777312T>C	ENST00000334635.5	+	9	872	c.692T>C	c.(691-693)cTt>cCt	p.L231P	DCUN1D4_ENST00000381441.3_Intron|DCUN1D4_ENST00000381437.4_Missense_Mutation_p.L171P|DCUN1D4_ENST00000451288.2_Missense_Mutation_p.L275P	NM_001040402.1	NP_001035492.1	Q92564	DCNL4_HUMAN	DCN1, defective in cullin neddylation 1, domain containing 4	231	DCUN1.									endometrium(2)|large_intestine(2)|lung(2)|ovary(2)|skin(1)	9			GBM - Glioblastoma multiforme(4;1.93e-11)|LUSC - Lung squamous cell carcinoma(32;0.00654)			ATCTGGCCCCTTTTTCCAGTT	0.383													3	49					0	0	1	0	0	C	52777312	T	C	52777312	3	2	422	1	0	0	0	0	1	0	0	0	4339	1609	56	3	726	3	DCUN1D4	4	52777312	Missense_Mutation	SNP	T	TCGA-S9-A6U9-01A-11D-A32B-08		52777312	138376964	7	34325											
ANXA10	11199	broad.mit.edu	37	4	169100462	169100462	+	Splice_Site	SNP	T	T	C			TCGA-S9-A6U9-01A-11D-A32B-08	TCGA-S9-A6U9-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b7b1a9-6595-49c9-a355-1429cff9701f	8e7599d0-823a-472b-8d6c-38730ad5fd1a	g.chr4:169100462T>C	ENST00000359299.3	+	9	909	c.723T>C	c.(721-723)atT>atC	p.I241I		NM_007193.4	NP_009124.2	Q9UJ72	ANX10_HUMAN	annexin A10	241							calcium ion binding|calcium-dependent phospholipid binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(2)	16		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0325)		TGGTTGCAATTGGTAAGTAAT	0.338													6	2					0	0	1	0	0	C	169100462	T	C	169100462	5	2	422	1	0	0	0	0	0	0	1	0	709	1826	63	3	757	3	ANXA10	4	169100462	Splice_Site	SNP	T	TCGA-S9-A6U9-01A-11D-A32B-08	116323150	169100462	22053814	8	34326											
YIPF3	25844	broad.mit.edu	37	6	43480227	43480227	+	Silent	SNP	G	G	A	rs147670761	by1000genomes	TCGA-S9-A6U9-01A-11D-A32B-08	TCGA-S9-A6U9-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b7b1a9-6595-49c9-a355-1429cff9701f	8e7599d0-823a-472b-8d6c-38730ad5fd1a	g.chr6:43480227G>A	ENST00000372422.2	-	8	1037	c.855C>T	c.(853-855)caC>caT	p.H285H	YIPF3_ENST00000506469.1_Silent_p.H291H	NM_015388.3	NP_056203.2	Q9GZM5	YIPF3_HUMAN	Yip1 domain family, member 3	285					cell differentiation	integral to membrane|plasma membrane|transport vesicle				large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|skin(1)	9	all_cancers(18;3.79e-05)|Lung NSC(15;0.00217)|all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00736)|OV - Ovarian serous cystadenocarcinoma(102;0.0711)			GGAAGAGCATGTGTAGGGCAG	0.567													7	6					0	0	1	0	0	A	43480227	G	A	43480227	2	1	422	1	0	0	0	0	0	0	0	1	17539	1368	48	2		2	YIPF3	6	43480227	Silent	SNP	G	TCGA-S9-A6U9-01A-11D-A32B-08		43480227	127634840	9	34327											
PKHD1	5314	broad.mit.edu	37	6	51484035	51484035	+	Silent	SNP	G	G	A			TCGA-S9-A6U9-01A-11D-A32B-08	TCGA-S9-A6U9-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b7b1a9-6595-49c9-a355-1429cff9701f	8e7599d0-823a-472b-8d6c-38730ad5fd1a	g.chr6:51484035G>A	ENST00000371117.3	-	67	12344	c.12069C>T	c.(12067-12069)gaC>gaT	p.D4023D	RP3-335N17.2_ENST00000589278.2_RNA|RP3-335N17.2_ENST00000454361.1_RNA	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	4023					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)					CTTGTCTGAAGTCTGGGCATA	0.567													10	23					0	0	1	0	0	A	51484035	G	A	51484035	2	1	422	1	0	0	0	0	0	0	0	1	12019	1020	36	2		2	PKHD1	6	51484035	Silent	SNP	G	TCGA-S9-A6U9-01A-11D-A32B-08	8003808	51484035	119631032	10	34328											
PHF3	23469	broad.mit.edu	37	6	64408211	64408211	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A6U9-01A-11D-A32B-08	TCGA-S9-A6U9-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b7b1a9-6595-49c9-a355-1429cff9701f	8e7599d0-823a-472b-8d6c-38730ad5fd1a	g.chr6:64408211A>G	ENST00000262043.3	+	7	3119	c.2779A>G	c.(2779-2781)Atc>Gtc	p.I927V	PHF3_ENST00000393387.1_Missense_Mutation_p.I927V			Q92576	PHF3_HUMAN	PHD finger protein 3	927	TFIIS central.				multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			TGCAGATCAGATCAGGCAAAG	0.343													44	109					0	0	1	0	0	G	64408211	A	G	64408211	3	3	422	1	0	0	0	0	1	0	0	0	11884	333	12	3	2801	3	PHF3	6	64408211	Missense_Mutation	SNP	A	TCGA-S9-A6U9-01A-11D-A32B-08	12924176	64408211	106706856	11	34329											
VGLL2	245806	broad.mit.edu	37	6	117591791	117591791	+	Silent	SNP	C	C	T			TCGA-S9-A6U9-01A-11D-A32B-08	TCGA-S9-A6U9-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b7b1a9-6595-49c9-a355-1429cff9701f	8e7599d0-823a-472b-8d6c-38730ad5fd1a	g.chr6:117591791C>T	ENST00000326274.5	+	3	667	c.477C>T	c.(475-477)ggC>ggT	p.G159G	VGLL2_ENST00000352536.3_Intron	NM_182645.3	NP_872586.1	Q8N8G2	VGLL2_HUMAN	vestigial like 2 (Drosophila)	159					transcription, DNA-dependent	nucleus				central_nervous_system(1)|kidney(1)|lung(3)	5				GBM - Glioblastoma multiforme(226;0.0254)|all cancers(137;0.0676)|OV - Ovarian serous cystadenocarcinoma(136;0.0757)		CGCCGCTGGGCAGCCCTCTGG	0.741													4	3					0	0	1	0	0	T	117591791	C	T	117591791	2	4	422	1	0	0	0	0	0	0	0	1	17219	697	25	2		2	VGLL2	6	117591791	Silent	SNP	C	TCGA-S9-A6U9-01A-11D-A32B-08	53183580	117591791	53523276	12	34330											
SNX9	51429	broad.mit.edu	37	6	158357011	158357011	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A6U9-01A-11D-A32B-08	TCGA-S9-A6U9-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b7b1a9-6595-49c9-a355-1429cff9701f	8e7599d0-823a-472b-8d6c-38730ad5fd1a	g.chr6:158357011A>G	ENST00000392185.3	+	14	1553	c.1382A>G	c.(1381-1383)aAt>aGt	p.N461S		NM_016224.3	NP_057308.1	Q9Y5X1	SNX9_HUMAN	sorting nexin 9	461	BAR.				cell communication|intracellular protein transport|lipid tube assembly|positive regulation of GTPase activity|positive regulation of protein oligomerization|receptor-mediated endocytosis	clathrin-coated vesicle|cytoplasmic vesicle membrane|extrinsic to internal side of plasma membrane|ruffle|trans-Golgi network	1-phosphatidylinositol binding|protein homodimerization activity|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	20		Breast(66;0.000776)|Ovarian(120;0.0303)|Prostate(117;0.167)		OV - Ovarian serous cystadenocarcinoma(65;8.06e-18)|BRCA - Breast invasive adenocarcinoma(81;4.48e-05)		ACAGATCTCAATGATGCAATA	0.303													10	20					0	0	1	0	0	G	158357011	A	G	158357011	3	3	422	1	0	0	0	0	1	0	0	0	14963	101	4	3	1436	3	SNX9	6	158357011	Missense_Mutation	SNP	A	TCGA-S9-A6U9-01A-11D-A32B-08	40765220	158357011	12758056	13	34331											
TCP10	6953	broad.mit.edu	37	6	167796320	167796320	+	Silent	SNP	G	G	A			TCGA-S9-A6U9-01A-11D-A32B-08	TCGA-S9-A6U9-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b7b1a9-6595-49c9-a355-1429cff9701f	8e7599d0-823a-472b-8d6c-38730ad5fd1a	g.chr6:167796320G>A	ENST00000366827.2	-	2	253	c.42C>T	c.(40-42)gaC>gaT	p.D14D	TCP10_ENST00000476779.2_Silent_p.D14D|TCP10_ENST00000397829.4_Silent_p.D14D			Q12799	TCP10_HUMAN	t-complex 10	41						cytosol				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(6)	18		Breast(66;1.53e-05)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)|GBM - Glioblastoma multiforme(31;0.0386)		CGGCATTGCTGTCCTCCCTGG	0.652													3	8					0	0	1	0	0	A	167796320	G	A	167796320	2	1	422	1	0	0	0	0	0	0	0	1	15770	1368	48	2		2	TCP10	6	167796320	Silent	SNP	G	TCGA-S9-A6U9-01A-11D-A32B-08	9439309	167796320	3318747	14	34332											
TNRC18	84629	broad.mit.edu	37	7	5402311	5402311	+	Missense_Mutation	SNP	C	C	G			TCGA-S9-A6U9-01A-11D-A32B-08	TCGA-S9-A6U9-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b7b1a9-6595-49c9-a355-1429cff9701f	8e7599d0-823a-472b-8d6c-38730ad5fd1a	g.chr7:5402311C>G	ENST00000399537.4	-	12	4713	c.4365G>C	c.(4363-4365)aaG>aaC	p.K1455N	TNRC18_ENST00000430969.1_Missense_Mutation_p.K1455N			O15417	TNC18_HUMAN	trinucleotide repeat containing 18	1455							DNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		TCCAGCTGTACTTCTTGTTGG	0.677													4	1					0	0	1	0	0	G	5402311	C	G	5402311	3	3	422	1	0	0	0	0	1	0	0	0	16399	564	20	4	4617	4	TNRC18	7	5402311	Missense_Mutation	SNP	C	TCGA-S9-A6U9-01A-11D-A32B-08		5402311	153736352	15	34333											
CSPP1	79848	broad.mit.edu	37	8	68074125	68074125	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A6U9-01A-11D-A32B-08	TCGA-S9-A6U9-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b7b1a9-6595-49c9-a355-1429cff9701f	8e7599d0-823a-472b-8d6c-38730ad5fd1a	g.chr8:68074125A>G	ENST00000262210.5	+	20	2634	c.2603A>G	c.(2602-2604)gAc>gGc	p.D868G	CSPP1_ENST00000412460.1_Missense_Mutation_p.D523G|CSPP1_ENST00000521168.1_3'UTR	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	centrosome and spindle pole associated protein 1	903						centrosome|microtubule|spindle				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)			CCTTCAGTTGACAGCATCATA	0.343													38	94					0	0	1	0	0	G	68074125	A	G	68074125	3	3	422	1	0	0	0	0	1	0	0	0	3987	275	10	3	2794	3	CSPP1	8	68074125	Missense_Mutation	SNP	A	TCGA-S9-A6U9-01A-11D-A32B-08		68074125	78289897	16	34334											
SNX31	169166	broad.mit.edu	37	8	101612660	101612660	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6U9-01A-11D-A32B-08	TCGA-S9-A6U9-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b7b1a9-6595-49c9-a355-1429cff9701f	8e7599d0-823a-472b-8d6c-38730ad5fd1a	g.chr8:101612660C>T	ENST00000311812.2	-	9	841	c.691G>A	c.(691-693)Gac>Aac	p.D231N	SNX31_ENST00000428383.2_Missense_Mutation_p.D132N	NM_152628.3	NP_689841.3	Q8N9S9	SNX31_HUMAN	sorting nexin 31	231					cell communication|protein transport		phosphatidylinositol binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|skin(3)|urinary_tract(1)	26	all_cancers(14;4.01e-05)|all_epithelial(15;1.26e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;1.21e-11)|all cancers(13;2.62e-09)|OV - Ovarian serous cystadenocarcinoma(57;3.22e-06)|STAD - Stomach adenocarcinoma(118;0.206)			TTTTCAATGTCCTGTATTGCC	0.348													38	80					0	0	1	0	0	T	101612660	C	T	101612660	3	4	422	1	0	0	0	0	1	0	0	0	14955	855	30	2	655	2	SNX31	8	101612660	Missense_Mutation	SNP	C	TCGA-S9-A6U9-01A-11D-A32B-08	33538535	101612660	44751362	17	34335											
DLG5	9231	broad.mit.edu	37	10	79685993	79685993	+	Frame_Shift_Del	DEL	G	G	-			TCGA-S9-A6U9-01A-11D-A32B-08	TCGA-S9-A6U9-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b7b1a9-6595-49c9-a355-1429cff9701f	8e7599d0-823a-472b-8d6c-38730ad5fd1a	g.chr10:79685993delG	ENST00000372391.2	-	1	291	c.286delC	c.(286-288)cagfs	p.Q96fs	DLG5_ENST00000372388.2_Frame_Shift_Del_p.Q96fs	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	96					cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			TCGGCGGGCTGCGGCGGCCCG	0.726													2	4	---	---	---	---						-	79685993	G	-	79685993	7	5	422	1	0	1	0	1	0	0	0	0	4586	1328	46	0	5601	0	DLG5	10	79685993	Frame_Shift_Del	DEL	G	TCGA-S9-A6U9-01A-11D-A32B-08		79685993	55848754	18	34336											
VWA2	340706	broad.mit.edu	37	10	116038488	116038488	+	Silent	SNP	C	C	G			TCGA-S9-A6U9-01A-11D-A32B-08	TCGA-S9-A6U9-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b7b1a9-6595-49c9-a355-1429cff9701f	8e7599d0-823a-472b-8d6c-38730ad5fd1a	g.chr10:116038488C>G	ENST00000603594.1	+	8	1032	c.711C>G	c.(709-711)gtC>gtG	p.V237V	VWA2_ENST00000392982.3_Silent_p.V237V	NM_001272046.1	NP_001258975.1	Q5GFL6	VWA2_HUMAN	von Willebrand factor A domain containing 2	237						extracellular region				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26				Epithelial(162;0.036)|all cancers(201;0.0793)		ACTGCAGGGTCGAGGCTCACC	0.657													17	15					0	0	1	0	0	G	116038488	C	G	116038488	2	3	422	1	0	0	0	0	0	0	0	1	17299	871	31	5		5	VWA2	10	116038488	Silent	SNP	C	TCGA-S9-A6U9-01A-11D-A32B-08	36352495	116038488	19496259	19	34337											
OR5AP2	338675	broad.mit.edu	37	11	56409457	56409457	+	Silent	SNP	G	G	C			TCGA-S9-A6U9-01A-11D-A32B-08	TCGA-S9-A6U9-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b7b1a9-6595-49c9-a355-1429cff9701f	8e7599d0-823a-472b-8d6c-38730ad5fd1a	g.chr11:56409457G>C	ENST00000544374.1	-	1	490	c.462C>G	c.(460-462)acC>acG	p.T154T	OR5AP2_ENST00000302981.1_Silent_p.T153T			Q8NGF4	O5AP2_HUMAN	olfactory receptor, family 5, subfamily AP, member 2	153					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	29						CTAAGAAGGAGGTAGCTATTA	0.453													10	33					0	0	1	0	0	C	56409457	G	C	56409457	2	2	422	1	0	0	0	0	0	0	0	1	11191	987	35	4		4	OR5AP2	11	56409457	Silent	SNP	G	TCGA-S9-A6U9-01A-11D-A32B-08		56409457	78597059	20	34338											
SF3B2	10992	broad.mit.edu	37	11	65829467	65829467	+	Missense_Mutation	SNP	G	G	C			TCGA-S9-A6U9-01A-11D-A32B-08	TCGA-S9-A6U9-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b7b1a9-6595-49c9-a355-1429cff9701f	8e7599d0-823a-472b-8d6c-38730ad5fd1a	g.chr11:65829467G>C	ENST00000528302.1	+	15	1978	c.1924G>C	c.(1924-1926)Gag>Cag	p.E642Q	SF3B2_ENST00000322535.6_Missense_Mutation_p.E659Q			Q13435	SF3B2_HUMAN	splicing factor 3b, subunit 2, 145kDa	659					interspecies interaction between organisms	catalytic step 2 spliceosome|nucleoplasm|U12-type spliceosomal complex	nucleic acid binding|protein binding			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						GCCCATCCCTGAGGTGAGCAT	0.498													3	7					0	0	1	0	0	C	65829467	G	C	65829467	3	2	422	1	0	0	0	0	1	0	0	0	14205	1291	45	5	2037	5	SF3B2	11	65829467	Missense_Mutation	SNP	G	TCGA-S9-A6U9-01A-11D-A32B-08	9420010	65829467	69177049	21	34339											
SIK2	23235	broad.mit.edu	37	11	111594198	111594221	+	Splice_Site	DEL	TCCTTTGATATTACCAATTTAGGC	TCCTTTGATATTACCAATTTAGGC	-			TCGA-S9-A6U9-01A-11D-A32B-08	TCGA-S9-A6U9-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b7b1a9-6595-49c9-a355-1429cff9701f	8e7599d0-823a-472b-8d6c-38730ad5fd1a	g.chr11:111594198_111594221delTCCTTTGATATTACCAATTTAGGC	ENST00000304987.3	+	15	2320_2322	c.2147_2149delTCCTTTGATATTACCAATTTAGGC	c.(2146-2151)atcctt>att	p.L717del		NM_015191.1	NP_056006.1	Q9H0K1	SIK2_HUMAN	salt-inducible kinase 2	717					intracellular protein kinase cascade|regulation of insulin receptor signaling pathway	Golgi apparatus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	30						TAAAATTCTTTCCTTTGATATTACCAATTTAGGCTCCAGCAGAA	0.402													9	31	---	---	---	---						-	111594221	TCCTTTGATATTACCAATTTAGGC	-	111594198	8	5	422	1	0	1	0	1	0	0	1	0	14373	1798	62	0		0	SIK2	11	111594198	Splice_Site	DEL	TCCTTTGATATTACCAATTTAGGC	TCGA-S9-A6U9-01A-11D-A32B-08	45764731	111594198	23412318	22	34340											
ATN1	1822	broad.mit.edu	37	12	7045239	7045239	+	Missense_Mutation	SNP	C	C	G			TCGA-S9-A6U9-01A-11D-A32B-08	TCGA-S9-A6U9-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b7b1a9-6595-49c9-a355-1429cff9701f	8e7599d0-823a-472b-8d6c-38730ad5fd1a	g.chr12:7045239C>G	ENST00000356654.4	+	5	1046	c.809C>G	c.(808-810)gCt>gGt	p.A270G	ATN1_ENST00000396684.2_Missense_Mutation_p.A270G	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN	atrophin 1	270					cell death|central nervous system development	cytoplasm|nucleus	protein domain specific binding			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						GCTAGTGGTGCTCCCCCAACA	0.627													9	27					0	0	1	0	0	G	7045239	C	G	7045239	3	3	422	1	0	0	0	0	1	0	0	0	1110	797	28	4	823	4	ATN1	12	7045239	Missense_Mutation	SNP	C	TCGA-S9-A6U9-01A-11D-A32B-08		7045239	126806656	23	34341											
STAC3	246329	broad.mit.edu	37	12	57642553	57642553	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6U9-01A-11D-A32B-08	TCGA-S9-A6U9-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b7b1a9-6595-49c9-a355-1429cff9701f	8e7599d0-823a-472b-8d6c-38730ad5fd1a	g.chr12:57642553C>T	ENST00000332782.2	-	4	569	c.368G>A	c.(367-369)tGc>tAc	p.C123Y	STAC3_ENST00000554578.1_Missense_Mutation_p.C84Y|STAC3_ENST00000546246.2_Intron	NM_145064.1	NP_659501.1	Q96MF2	STAC3_HUMAN	SH3 and cysteine rich domain 3	123					intracellular signal transduction		identical protein binding|metal ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(2)|skin(1)	18						GTTGGTTTTGCAGTTCTTACA	0.488													5	365					0	0	1	0	0	T	57642553	C	T	57642553	3	4	422	1	0	0	0	0	1	0	0	0	15297	710	25	2	762	2	STAC3	12	57642553	Missense_Mutation	SNP	C	TCGA-S9-A6U9-01A-11D-A32B-08	50597314	57642553	76209342	24	34342											
DHRS4L1	728635	broad.mit.edu	37	14	24511654	24511656	+	RNA	DEL	TTG	TTG	-			TCGA-S9-A6U9-01A-11D-A32B-08	TCGA-S9-A6U9-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b7b1a9-6595-49c9-a355-1429cff9701f	8e7599d0-823a-472b-8d6c-38730ad5fd1a	g.chr14:24511654_24511656delTTG	ENST00000558293.1	+	0	437					NR_102693.1																						GAAGGAAGATttgttgttgttgt	0.365													2	4	---	---	---	---						-	24511656	TTG	-	24511654	6	5	422	0	1	1	0	1	0	0	0	0	4521	1856	64	0		0	DHRS4L1	14	24511654	RNA	DEL	TTG	TCGA-S9-A6U9-01A-11D-A32B-08		24511654	82837886	25	34343											
NRXN3	9369	broad.mit.edu	37	14	79433549	79433549	+	Splice_Site	SNP	A	A	G			TCGA-S9-A6U9-01A-11D-A32B-08	TCGA-S9-A6U9-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b7b1a9-6595-49c9-a355-1429cff9701f	8e7599d0-823a-472b-8d6c-38730ad5fd1a	g.chr14:79433549A>G	ENST00000554719.1	+	10	2149		c.e10-1		NRXN3_ENST00000335750.5_Splice_Site	NM_004796.4	NP_004787.2	Q9HDB5	NRX3B_HUMAN	neurexin 3						angiogenesis|cell adhesion	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		TTTTCTTCCTAGGTATATACA	0.423													7	16					0	0	1	0	0	G	79433549	A	G	79433549	5	3	422	1	0	0	0	0	0	0	1	0	10715	434	15	3	1687	3	NRXN3	14	79433549	Splice_Site	SNP	A	TCGA-S9-A6U9-01A-11D-A32B-08	54921895	79433549	27915991	26	34344											
BTBD7	55727	broad.mit.edu	37	14	93730194	93730194	+	Silent	SNP	C	C	T			TCGA-S9-A6U9-01A-11D-A32B-08	TCGA-S9-A6U9-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b7b1a9-6595-49c9-a355-1429cff9701f	8e7599d0-823a-472b-8d6c-38730ad5fd1a	g.chr14:93730194C>T	ENST00000334746.5	-	4	1615	c.1308G>A	c.(1306-1308)tcG>tcA	p.S436S	BTBD7_ENST00000554565.1_Silent_p.S85S|BTBD7_ENST00000393170.2_Intron	NM_001002860.2	NP_001002860.2	Q9P203	BTBD7_HUMAN	BTB (POZ) domain containing 7	436										breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35		all_cancers(154;0.08)		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)		AAAAAACATCCGAAGTCATGA	0.423													19	58					0	0	1	0	0	T	93730194	C	T	93730194	2	4	422	1	0	0	0	0	0	0	0	1	1549	639	23	1		1	BTBD7	14	93730194	Silent	SNP	C	TCGA-S9-A6U9-01A-11D-A32B-08	14296645	93730194	13619346	27	34345											
TP53	7157	broad.mit.edu	37	17	7577547	7577547	+	Missense_Mutation	SNP	C	C	A	rs121912656		TCGA-S9-A6U9-01A-11D-A32B-08	TCGA-S9-A6U9-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b7b1a9-6595-49c9-a355-1429cff9701f	8e7599d0-823a-472b-8d6c-38730ad5fd1a	g.chr17:7577547C>A	ENST00000420246.2	-	7	866	c.734G>T	c.(733-735)gGc>gTc	p.G245V	TP53_ENST00000455263.2_Missense_Mutation_p.G245V|TP53_ENST00000269305.4_Missense_Mutation_p.G245V|TP53_ENST00000445888.2_Missense_Mutation_p.G245V|TP53_ENST00000413465.2_Missense_Mutation_p.G245V|TP53_ENST00000359597.4_Missense_Mutation_p.G245V	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	245	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		G -> A (in sporadic cancers; somatic mutation).|G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> E (in a sporadic cancer; somatic mutation).|G -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|G -> L (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934575).|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.G245D(104)|p.G245V(66)|p.G245A(8)|p.0?(8)|p.?(5)|p.G152V(4)|p.G244_M246>V(3)|p.G152D(3)|p.G245N(2)|p.G245H(1)|p.G245L(1)|p.G244fs*17(1)|p.G245F(1)|p.G245E(1)|p.C242_M246>L(1)|p.G245fs*2(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.M243fs*18(1)|p.C238_M246delCNSSCMGGM(1)|p.G151_M153>V(1)|p.G245del(1)|p.G245fs*14(1)|p.G245fs*17(1)|p.G245fs*16(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CCGGTTCATGCCGCCCATGCA	0.582		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)			19	15					1.22574e-08	1.25887e-08	1	1	0	A	7577547	C	A	7577547	3	1	422	1	0	0	0	0	1	0	0	0	16442	739	26	5	556	5	TP53	17	7577547	Missense_Mutation	SNP	C	TCGA-S9-A6U9-01A-11D-A32B-08		7577547	73617663	28	34346											
MARCH10	162333	broad.mit.edu	37	17	60802387	60802387	+	Silent	SNP	G	G	A			TCGA-S9-A6U9-01A-11D-A32B-08	TCGA-S9-A6U9-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b7b1a9-6595-49c9-a355-1429cff9701f	8e7599d0-823a-472b-8d6c-38730ad5fd1a	g.chr17:60802387G>A	ENST00000544856.2	-	8	2391	c.2013C>T	c.(2011-2013)ccC>ccT	p.P671P	MARCH10_ENST00000583600.1_Silent_p.P710P|MARCH10_ENST00000311269.5_Silent_p.P672P|RP11-156L14.1_ENST00000577270.1_RNA|RP11-156L14.1_ENST00000584597.1_RNA|RP11-156L14.1_ENST00000579201.1_RNA|RP11-156L14.1_ENST00000582564.1_RNA|MARCH10_ENST00000456609.2_Silent_p.P672P			Q8NA82	MARHA_HUMAN	membrane-associated ring finger (C3HC4) 10, E3 ubiquitin protein ligase	672							ligase activity|zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15)	38						GCTCCAGGAGGGGGTTGCTTG	0.537													31	43					0	0	1	0	0	A	60802387	G	A	60802387	2	1	422	1	0	0	0	0	0	0	0	1	9349	1219	43	2		2	MARCH10	17	60802387	Silent	SNP	G	TCGA-S9-A6U9-01A-11D-A32B-08	53224840	60802387	20392823	29	34347											
GATA6	2627	broad.mit.edu	37	18	19751274	19751274	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6U9-01A-11D-A32B-08	TCGA-S9-A6U9-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b7b1a9-6595-49c9-a355-1429cff9701f	8e7599d0-823a-472b-8d6c-38730ad5fd1a	g.chr18:19751274G>A	ENST00000269216.3	+	2	446	c.169G>A	c.(169-171)Gcc>Acc	p.A57T	GATA6_ENST00000581694.1_Missense_Mutation_p.A57T	NM_005257.4	NP_005248.2	Q92908	GATA6_HUMAN	GATA binding protein 6	57					blood coagulation|cardiac vascular smooth muscle cell differentiation|cellular response to hypoxia|intestinal epithelial cell differentiation|male gonad development|negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor-beta1 production|negative regulation of transforming growth factor-beta2 production|outflow tract septum morphogenesis|positive regulation of angiogenesis|positive regulation of cell cycle arrest|positive regulation of transcription from RNA polymerase II promoter|response to drug|response to growth factor stimulus		protein binding|protein kinase binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	18	all_cancers(21;0.00271)|all_epithelial(16;7.31e-05)|Ovarian(2;0.116)|Lung NSC(20;0.123)|all_lung(20;0.246)		STAD - Stomach adenocarcinoma(5;0.106)			CCCCGGCGGCGCCAGCAACTG	0.741													4	3					0	0	1	0	0	A	19751274	G	A	19751274	3	1	422	1	0	0	0	0	1	0	0	0	6298	1087	38	1	171	1	GATA6	18	19751274	Missense_Mutation	SNP	G	TCGA-S9-A6U9-01A-11D-A32B-08		19751274	58325974	30	34348											
MUC16	94025	broad.mit.edu	37	19	9048095	9048095	+	Missense_Mutation	SNP	G	G	T	rs72486386	by1000genomes	TCGA-S9-A6U9-01A-11D-A32B-08	TCGA-S9-A6U9-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b7b1a9-6595-49c9-a355-1429cff9701f	8e7599d0-823a-472b-8d6c-38730ad5fd1a	g.chr19:9048095G>T	ENST00000397910.4	-	5	33739	c.33536C>A	c.(33535-33537)aCc>aAc	p.T11179N		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11181	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGAAGTTGTGGTCTCTGGTTC	0.468													3	27					1	1	1	1	0	T	9048095	G	T	9048095	3	4	422	1	0	0	0	0	1	0	0	0	10021	1261	44	5	10307	5	MUC16	19	9048095	Missense_Mutation	SNP	G	TCGA-S9-A6U9-01A-11D-A32B-08		9048095	50080888	31	34349											
C20orf26	26074	broad.mit.edu	37	20	20269322	20269322	+	Missense_Mutation	SNP	G	G	T			TCGA-S9-A6U9-01A-11D-A32B-08	TCGA-S9-A6U9-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b7b1a9-6595-49c9-a355-1429cff9701f	8e7599d0-823a-472b-8d6c-38730ad5fd1a	g.chr20:20269322G>T	ENST00000245957.5	+	23	2942	c.2866G>T	c.(2866-2868)Gtg>Ttg	p.V956L	C20orf26_ENST00000377309.2_Intron	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN	chromosome 20 open reading frame 26	956										NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		TGCATGTCTTGTGTATGACAG	0.418													60	106					3.13765e-25	3.31197e-25	1	1	0	T	20269322	G	T	20269322	3	4	422	1	0	0	0	0	1	0	0	0	2120	1377	48	5	2984	5	C20orf26	20	20269322	Missense_Mutation	SNP	G	TCGA-S9-A6U9-01A-11D-A32B-08		20269322	42756198	32	34350											
RBM12	10137	broad.mit.edu	37	20	34240878	34240878	+	Silent	SNP	A	A	G			TCGA-S9-A6U9-01A-11D-A32B-08	TCGA-S9-A6U9-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b7b1a9-6595-49c9-a355-1429cff9701f	8e7599d0-823a-472b-8d6c-38730ad5fd1a	g.chr20:34240878A>G	ENST00000374114.3	-	3	2630	c.2367T>C	c.(2365-2367)ccT>ccC	p.P789P	CPNE1_ENST00000317677.5_Intron|CPNE1_ENST00000397442.1_Intron|CPNE1_ENST00000352393.4_Intron|RP1-309K20.6_ENST00000541176.2_Intron|CPNE1_ENST00000397445.1_Intron|RBM12_ENST00000359646.1_Silent_p.P789P|CPNE1_ENST00000397443.1_Intron|RBM12_ENST00000374104.3_Silent_p.P789P|CPNE1_ENST00000317619.3_Intron|CPNE1_ENST00000397446.1_Intron	NM_001198838.1|NM_001198840.1|NM_006047.5	NP_001185767.1|NP_001185769.1|NP_006038.2	Q9NTZ6	RBM12_HUMAN	RNA binding motif protein 12	789	Gly-rich.|Pro-rich.					nucleus	nucleotide binding|protein binding|RNA binding			breast(3)|endometrium(7)|kidney(1)|large_intestine(3)|lung(14)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Lung NSC(9;0.00608)|all_lung(11;0.00918)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			CAAAATTCTGAGGGCCCCCTC	0.572													3	34					0	0	1	0	0	G	34240878	A	G	34240878	2	3	422	1	0	0	0	0	0	0	0	1	13165	291	11	3		3	RBM12	20	34240878	Silent	SNP	A	TCGA-S9-A6U9-01A-11D-A32B-08	13971556	34240878	28784642	33	34351											
TCEANC	170082	broad.mit.edu	37	X	13681313	13681313	+	Frame_Shift_Del	DEL	C	C	-			TCGA-S9-A6U9-01A-11D-A32B-08	TCGA-S9-A6U9-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b7b1a9-6595-49c9-a355-1429cff9701f	8e7599d0-823a-472b-8d6c-38730ad5fd1a	g.chrX:13681313delC	ENST00000380600.1	+	2	773	c.686delC	c.(685-687)gccfs	p.A229fs	TCEANC_ENST00000490617.1_3'UTR|TCEANC_ENST00000544987.1_Frame_Shift_Del_p.A229fs|TCEANC_ENST00000314720.4_Frame_Shift_Del_p.A259fs|TCEANC_ENST00000545566.1_Frame_Shift_Del_p.A229fs			Q8N8B7	TEANC_HUMAN	transcription elongation factor A (SII) N-terminal and central domain containing	229	TFIIS central.				regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding			central_nervous_system(1)|large_intestine(5)|lung(2)|pancreas(1)	9						AGCAAAGTTGCCAATTTGAAG	0.373													2	4	---	---	---	---						-	13681313	C	-	13681313	7	5	422	1	0	1	0	1	0	0	0	0	15738	739	26	0	782	0	TCEANC	23	13681313	Frame_Shift_Del	DEL	C	TCGA-S9-A6U9-01A-11D-A32B-08		13681313	141589247	34	34352											
ATRX	546	broad.mit.edu	37	X	76909645	76909646	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-S9-A6U9-01A-11D-A32B-08	TCGA-S9-A6U9-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b7b1a9-6595-49c9-a355-1429cff9701f	8e7599d0-823a-472b-8d6c-38730ad5fd1a	g.chrX:76909645_76909646delTT	ENST00000373344.5	-	14	4473_4474	c.4259_4260delAA	c.(4258-4260)aaafs	p.K1420fs	ATRX_ENST00000395603.3_Frame_Shift_Del_p.K1382fs|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1420					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)	TCTTTTTCTGTTTATAGCTCCG	0.322			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						50	34	---	---	---	---						-	76909646	TT	-	76909645	7	5	422	1	0	1	0	1	0	0	0	0	1206	1722	60	0	3306	0	ATRX	23	76909645	Frame_Shift_Del	DEL	TT	TCGA-S9-A6U9-01A-11D-A32B-08	63228332	76909645	78360915	35	34353											
IL13RA1	3597	broad.mit.edu	37	X	117875042	117875042	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A6U9-01A-11D-A32B-08	TCGA-S9-A6U9-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b7b1a9-6595-49c9-a355-1429cff9701f	8e7599d0-823a-472b-8d6c-38730ad5fd1a	g.chrX:117875042A>G	ENST00000371666.3	+	2	218	c.151A>G	c.(151-153)Aca>Gca	p.T51A	IL13RA1_ENST00000371642.1_Missense_Mutation_p.T51A	NM_001560.2	NP_001551.1	P78552	I13R1_HUMAN	interleukin 13 receptor, alpha 1	51						interleukin-13 receptor complex	cytokine receptor activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(7)	12						AGTAATATGGACATGGAATCC	0.378													8	42					0	0	1	0	0	G	117875042	A	G	117875042	3	3	422	1	0	0	0	0	1	0	0	0	7673	275	10	3	157	3	IL13RA1	23	117875042	Missense_Mutation	SNP	A	TCGA-S9-A6U9-01A-11D-A32B-08	40965397	117875042	37395518	36	34354											
PEX10	5192	broad.mit.edu	37	1	2343881	2343881	+	Frame_Shift_Del	DEL	A	A	-			TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr1:2343881delA	ENST00000288774.3	-	1	88	c.61delT	c.(61-63)tacfs	p.Y21fs	PEX10_ENST00000447513.2_Frame_Shift_Del_p.Y21fs|PEX10_ENST00000507596.1_Frame_Shift_Del_p.Y21fs	NM_153818.1	NP_722540.1	O60683	PEX10_HUMAN	peroxisomal biogenesis factor 10	21					protein import into peroxisome matrix	integral to peroxisomal membrane|peroxisomal membrane	protein binding|protein C-terminus binding|zinc ion binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(2)	7	all_cancers(77;0.000247)|all_epithelial(69;9.96e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;5.35e-20)|all_lung(118;2.78e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;1.1e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.02e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00102)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0169)|Lung(427;0.199)		CCACCGCGGTAGTACTCGTCC	0.801													2	4	---	---	---	---						-	2343881	A	-	2343881	7	5	423	1	0	1	0	1	0	0	0	0	11784	420	15	0	1003	0	PEX10	1	2343881	Frame_Shift_Del	DEL	A	TCGA-S9-A6UA-01A-12D-A33T-08		2343881	246906740	1	34355											
ESPN	83715	broad.mit.edu	37	1	6504600	6504600	+	Silent	SNP	G	G	A			TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr1:6504600G>A	ENST00000377828.1	+	6	1218	c.1050G>A	c.(1048-1050)ccG>ccA	p.P350P	RP1-202O8.2_ENST00000419034.1_RNA	NM_031475.2	NP_113663.2	B1AK53	ESPN_HUMAN	espin	350					sensory perception of sound	brush border|cytoplasm|filamentous actin|stereocilium	actin filament binding|SH3 domain binding			NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)	17	Ovarian(185;0.0386)|all_lung(157;0.154)	all_cancers(23;3.6e-37)|all_epithelial(116;2.56e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|all_hematologic(16;6.92e-06)|Colorectal(325;4.47e-05)|Acute lymphoblastic leukemia(12;4.92e-05)|Breast(487;7.61e-05)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)		Epithelial(90;1.82e-35)|GBM - Glioblastoma multiforme(13;3e-28)|Kidney(185;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(229;5.63e-08)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;1.41e-05)|BRCA - Breast invasive adenocarcinoma(365;0.000109)|STAD - Stomach adenocarcinoma(132;0.00167)|Lung(427;0.0108)|LUSC - Lung squamous cell carcinoma(448;0.0253)|READ - Rectum adenocarcinoma(331;0.0419)		CTAAGCAGCCGGATTCAGGCA	0.612													21	79					0	0	1	0	0	A	6504600	G	A	6504600	2	1	423	1	0	0	0	0	0	0	0	1	5282	1103	39	1		1	ESPN	1	6504600	Silent	SNP	G	TCGA-S9-A6UA-01A-12D-A33T-08	4160719	6504600	242746021	2	34356											
WASF2	10163	broad.mit.edu	37	1	27736491	27736491	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr1:27736491C>T	ENST00000430629.2	-	8	1249	c.1034G>A	c.(1033-1035)gGg>gAg	p.G345E	WASF2_ENST00000536657.1_Intron	NM_001201404.1|NM_006990.3	NP_001188333.1|NP_008921.1	Q9Y6W5	WASF2_HUMAN	WAS protein family, member 2	345					actin cytoskeleton organization|G-protein signaling, coupled to cAMP nucleotide second messenger	actin cytoskeleton|lamellipodium	actin binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	18		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0446)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.7e-08)|COAD - Colon adenocarcinoma(152;2e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00139)|KIRC - Kidney renal clear cell carcinoma(1967;0.00204)|STAD - Stomach adenocarcinoma(196;0.00325)|READ - Rectum adenocarcinoma(331;0.0481)		TGGAGGCGTCCCTGGAGACCC	0.627													22	150					0	0	1	0	0	T	27736491	C	T	27736491	3	4	423	1	0	0	0	0	1	0	0	0	17313	623	22	2	470	2	WASF2	1	27736491	Missense_Mutation	SNP	C	TCGA-S9-A6UA-01A-12D-A33T-08	21231891	27736491	221514130	3	34357											
AHDC1	27245	broad.mit.edu	37	1	27877444	27877444	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr1:27877444G>A	ENST00000374011.2	-	6	2151	c.1183C>T	c.(1183-1185)Cgc>Tgc	p.R395C	AHDC1_ENST00000247087.5_Missense_Mutation_p.R395C	NM_001029882.2	NP_001025053.1	Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	395	Pro-rich.						DNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		TTCCGCCGGCGACACAGGATC	0.716													5	35					0	0	1	0	0	A	27877444	G	A	27877444	3	1	423	1	0	0	0	0	1	0	0	0	409	1058	37	1	3632	1	AHDC1	1	27877444	Missense_Mutation	SNP	G	TCGA-S9-A6UA-01A-12D-A33T-08	140953	27877444	221373177	4	34358											
KIAA0754	643314	broad.mit.edu	37	1	39878107	39878107	+	Silent	SNP	C	C	T			TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr1:39878107C>T	ENST00000530275.1	+	1	1957	c.1762C>T	c.(1762-1764)Ctg>Ttg	p.L588L	MACF1_ENST00000567887.1_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000372915.3_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000564288.1_Intron|MACF1_ENST00000289893.4_Intron	NM_015038.1	NP_055853.1	O94854	K0754_HUMAN	KIAA0754	588										central_nervous_system(1)|large_intestine(6)|skin(1)	8	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GGCAAAAGAGCTGGATTATCA	0.448													20	68					0	0	1	0	0	T	39878107	C	T	39878107	2	4	423	1	0	0	0	0	0	0	0	1	8234	796	28	2		2	KIAA0754	1	39878107	Silent	SNP	C	TCGA-S9-A6UA-01A-12D-A33T-08	12000663	39878107	209372514	5	34359											
LRRC7	57554	broad.mit.edu	37	1	70493911	70493911	+	Missense_Mutation	SNP	G	G	C			TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr1:70493911G>C	ENST00000310961.5	+	19	2171	c.1753G>C	c.(1753-1755)Gta>Cta	p.V585L	RP11-181B18.1_ENST00000414132.1_RNA|LRRC7_ENST00000415775.2_Intron|LRRC7_ENST00000035383.5_Missense_Mutation_p.V580L			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	580						centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						AAAGAATATGGTAAAATCTGT	0.338													53	153					0	0	1	0	0	C	70493911	G	C	70493911	3	2	423	1	0	0	0	0	1	0	0	0	9065	1261	44	5	1800	5	LRRC7	1	70493911	Missense_Mutation	SNP	G	TCGA-S9-A6UA-01A-12D-A33T-08	30615804	70493911	178756710	6	34360											
SCYL3	57147	broad.mit.edu	37	1	169828224	169828224	+	Missense_Mutation	SNP	T	T	G			TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr1:169828224T>G	ENST00000367771.6	-	11	1484	c.1270A>C	c.(1270-1272)Act>Cct	p.T424P	SCYL3_ENST00000367770.1_Missense_Mutation_p.T424P|SCYL3_ENST00000367772.4_Missense_Mutation_p.T424P	NM_020423.6	NP_065156.5	Q8IZE3	PACE1_HUMAN	SCY1-like 3 (S. cerevisiae)						cell migration	Golgi apparatus|lamellipodium	ATP binding|protein binding|protein kinase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					CTTGGGGCAGTGCGTTTGAAG	0.393													86	156					0	0	1	0	0	G	169828224	T	G	169828224	3	3	423	1	0	0	0	0	1	0	0	0	14003	1696	59	5	974	5	SCYL3	1	169828224	Missense_Mutation	SNP	T	TCGA-S9-A6UA-01A-12D-A33T-08	99334313	169828224	79422397	7	34361											
SLC30A3	7781	broad.mit.edu	37	2	27479686	27479686	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr2:27479686G>A	ENST00000233535.4	-	6	1205	c.853C>T	c.(853-855)Ctc>Ttc	p.L285F	SLC30A3_ENST00000447008.2_Missense_Mutation_p.L280F	NM_003459.4	NP_003450.2	Q99726	ZNT3_HUMAN	solute carrier family 30 (zinc transporter), member 3	285					regulation of sequestering of zinc ion	cell junction|integral to plasma membrane|late endosome|membrane fraction|synaptic vesicle membrane	zinc transporting ATPase activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|pancreas(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACGTCTCGGAGGGTGGGAGCG	0.587													14	78					0	0	1	0	0	A	27479686	G	A	27479686	3	1	423	1	0	0	0	0	1	0	0	0	14611	1000	35	2	325	2	SLC30A3	2	27479686	Missense_Mutation	SNP	G	TCGA-S9-A6UA-01A-12D-A33T-08		27479686	215719687	8	34362											
SPATS2L	26010	broad.mit.edu	37	2	201284007	201284007	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr2:201284007A>G	ENST00000358677.5	+	6	480	c.233A>G	c.(232-234)cAt>cGt	p.H78R	SPATS2L_ENST00000409140.3_Missense_Mutation_p.H78R|SPATS2L_ENST00000409755.3_Missense_Mutation_p.H108R|SPATS2L_ENST00000409151.1_Missense_Mutation_p.H86R|SPATS2L_ENST00000409718.1_Missense_Mutation_p.H78R|SPATS2L_ENST00000409988.3_Missense_Mutation_p.H78R|SPATS2L_ENST00000360760.5_Missense_Mutation_p.H78R|SPATS2L_ENST00000451764.2_Missense_Mutation_p.H78R|SPATS2L_ENST00000409385.1_Missense_Mutation_p.H18R	NM_001282735.1|NM_001282743.1|NM_001282744.1|NM_015535.2	NP_001269664.1|NP_001269672.1|NP_001269673.1|NP_056350.2	Q9NUQ6	SPS2L_HUMAN	spermatogenesis associated, serine-rich 2-like							cytoplasm|nucleolus				endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)	10						TCCAAGCAGCATCAAGGCAAC	0.448													7	18					0	0	1	0	0	G	201284007	A	G	201284007	3	3	423	1	0	0	0	0	1	0	0	0	15076	217	8	3	247	3	SPATS2L	2	201284007	Missense_Mutation	SNP	A	TCGA-S9-A6UA-01A-12D-A33T-08	173804321	201284007	41915366	9	34363											
CCDC108	255101	broad.mit.edu	37	2	219895995	219895995	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr2:219895995G>A	ENST00000341552.5	-	8	931	c.848C>T	c.(847-849)tCc>tTc	p.S283F	CCDC108_ENST00000441968.1_Missense_Mutation_p.S283F|CCDC108_ENST00000409865.3_Missense_Mutation_p.S272F|CCDC108_ENST00000453220.1_Missense_Mutation_p.S283F|CCDC108_ENST00000410037.1_Missense_Mutation_p.S218F	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	283						integral to membrane	structural molecule activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GAATGGGCTGGAGAACTCCCA	0.652													4	36					0	0	1	0	0	A	219895995	G	A	219895995	3	1	423	1	0	0	0	0	1	0	0	0	2761	1174	41	2	5041	2	CCDC108	2	219895995	Missense_Mutation	SNP	G	TCGA-S9-A6UA-01A-12D-A33T-08	18611988	219895995	23303378	10	34364											
SEC61A1	29927	broad.mit.edu	37	3	127783859	127783859	+	Silent	SNP	T	T	C			TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr3:127783859T>C	ENST00000243253.3	+	8	940	c.756T>C	c.(754-756)ttT>ttC	p.F252F	SEC61A1_ENST00000424880.2_Silent_p.F132F|SEC61A1_ENST00000464451.1_Silent_p.F258F|RUVBL1_ENST00000464873.1_3'UTR|SEC61A1_ENST00000483956.1_Intron	NM_013336.3	NP_037468.1	P61619	S61A1_HUMAN	Sec61 alpha 1 subunit (S. cerevisiae)	252					protein targeting to ER	integral to endoplasmic reticulum membrane	P-P-bond-hydrolysis-driven protein transmembrane transporter activity|protein binding|ribosome binding			central_nervous_system(1)|kidney(1)|large_intestine(5)|liver(1)|lung(8)|ovary(1)|prostate(4)	21						TCTTTGTCTTTGCAGTGGTCA	0.532													88	228					0	0	1	0	0	C	127783859	T	C	127783859	2	2	423	1	0	0	0	0	0	0	0	1	14054	1809	63	3		3	SEC61A1	3	127783859	Silent	SNP	T	TCGA-S9-A6UA-01A-12D-A33T-08		127783859	70238571	11	34365											
SLC30A5	64924	broad.mit.edu	37	5	68412039	68412039	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr5:68412039T>C	ENST00000396591.3	+	9	1680	c.1070T>C	c.(1069-1071)tTg>tCg	p.L357S	CTC-498J12.3_ENST00000504129.1_RNA	NM_022902.4	NP_075053.2	Q8TAD4	ZNT5_HUMAN	solute carrier family 30 (zinc transporter), member 5	357					cellular zinc ion homeostasis|cobalt ion transport|regulation of proton transport|response to zinc ion	apical plasma membrane|Golgi apparatus|integral to plasma membrane|membrane fraction|secretory granule membrane	zinc ion binding|zinc ion transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Lung NSC(167;0.000986)|Prostate(74;0.00809)|Colorectal(97;0.0508)|Ovarian(174;0.16)		OV - Ovarian serous cystadenocarcinoma(47;1.24e-56)|Epithelial(20;1.12e-52)|all cancers(19;2.63e-48)|Lung(70;0.0177)		TTCTTCATTTTGTGTAAGCAT	0.393													20	60					0	0	1	0	0	C	68412039	T	C	68412039	3	2	423	1	0	0	0	0	1	0	0	0	14613	1821	63	3	1192	3	SLC30A5	5	68412039	Missense_Mutation	SNP	T	TCGA-S9-A6UA-01A-12D-A33T-08		68412039	112503221	12	34366											
ERAP2	64167	broad.mit.edu	37	5	96232446	96232446	+	Frame_Shift_Del	DEL	T	T	-			TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr5:96232446delT	ENST00000437043.3	+	9	2093	c.1382delT	c.(1381-1383)attfs	p.I461fs	CTD-2260A17.2_ENST00000501338.1_Intron|ERAP2_ENST00000515095.1_3'UTR|ERAP2_ENST00000379904.4_Frame_Shift_Del_p.I416fs	NM_001130140.1|NM_022350.3	NP_001123612.1|NP_071745.1	Q6P179	ERAP2_HUMAN	endoplasmic reticulum aminopeptidase 2	461					antigen processing and presentation of endogenous peptide antigen via MHC class I|proteolysis|regulation of blood pressure	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24		all_cancers(142;0.000311)|all_epithelial(76;1.54e-06)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0596)|Ovarian(225;0.105)		COAD - Colon adenocarcinoma(37;0.0703)		GGAGCTTGTATTTTGAATATG	0.303													50	191	---	---	---	---						-	96232446	T	-	96232446	7	5	423	1	0	1	0	1	0	0	0	0	5232	1493	52	0	1412	0	ERAP2	5	96232446	Frame_Shift_Del	DEL	T	TCGA-S9-A6UA-01A-12D-A33T-08	27820407	96232446	84682814	13	34367											
PCDHB11	56125	broad.mit.edu	37	5	140579893	140579894	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr5:140579893_140579894delGA	ENST00000354757.3	+	1	546_547	c.546_547delGA	c.(544-549)atgagafs	p.R183fs	PCDHB11_ENST00000536699.1_Intron	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN		183	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACATTAAAATGAGAGTCATTCC	0.431													66	160	---	---	---	---						-	140579894	GA	-	140579893	7	5	423	1	0	1	0	1	0	0	0	0	11583	1290	45	0	548	0	PCDHB11	5	140579893	Frame_Shift_Del	DEL	GA	TCGA-S9-A6UA-01A-12D-A33T-08	44347447	140579893	40335367	14	34368											
PSMB1	5689	broad.mit.edu	37	6	170852781	170852781	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr6:170852781C>T	ENST00000262193.6	-	4	439	c.341G>A	c.(340-342)gGg>gAg	p.G114E	PSMB1_ENST00000462957.1_5'UTR	NM_002793.3	NP_002784.1	P20618	PSB1_HUMAN	proteasome (prosome, macropain) subunit, beta type, 1	114					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cell junction|cytoplasm|nucleus|proteasome core complex	protein binding|threonine-type endopeptidase activity			endometrium(2)|large_intestine(1)|lung(1)|ovary(1)	5		Breast(66;5.08e-05)|Ovarian(120;0.0563)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;7.5e-23)|BRCA - Breast invasive adenocarcinoma(81;4.88e-06)|GBM - Glioblastoma multiforme(31;0.00643)	Bortezomib(DB00188)	AGCAATTGCCCCCGTAGTCAT	0.403													48	178					0	0	1	0	0	T	170852781	C	T	170852781	3	4	423	1	0	0	0	0	1	0	0	0	12723	623	22	2	396	2	PSMB1	6	170852781	Missense_Mutation	SNP	C	TCGA-S9-A6UA-01A-12D-A33T-08		170852781	262286	15	34369											
GIMAP7	168537	broad.mit.edu	37	7	150217542	150217542	+	Silent	SNP	C	C	T			TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr7:150217542C>T	ENST00000313543.4	+	2	637	c.480C>T	c.(478-480)tgC>tgT	p.C160C		NM_153236.3	NP_694968.1	Q8NHV1	GIMA7_HUMAN	GTPase, IMAP family member 7	160							GTP binding			breast(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	17			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TCAAGGAGTGCGGGAACCGCT	0.502													4	95					0	0	1	0	0	T	150217542	C	T	150217542	2	4	423	1	0	0	0	0	0	0	0	1	6426	776	27	1		1	GIMAP7	7	150217542	Silent	SNP	C	TCGA-S9-A6UA-01A-12D-A33T-08		150217542	8921121	16	34370											
INTS10	55174	broad.mit.edu	37	8	19694646	19694646	+	Silent	SNP	G	G	A			TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr8:19694646G>A	ENST00000397977.3	+	13	2012	c.1614G>A	c.(1612-1614)tcG>tcA	p.S538S		NM_018142.2	NP_060612.2	Q9NVR2	INT10_HUMAN	integrator complex subunit 10	538					snRNA processing	integrator complex	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	20				Colorectal(111;0.057)|COAD - Colon adenocarcinoma(73;0.215)		AGGAACCCTCGAAAGTAAAGC	0.403													4	108					0	0	1	0	0	A	19694646	G	A	19694646	2	1	423	1	0	0	0	0	0	0	0	1	7820	1045	37	1		1	INTS10	8	19694646	Silent	SNP	G	TCGA-S9-A6UA-01A-12D-A33T-08		19694646	126669376	17	34371											
C9orf156	51531	broad.mit.edu	37	9	100667129	100667129	+	Silent	SNP	C	C	T			TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr9:100667129C>T	ENST00000375119.3	-	5	1288	c.1212G>A	c.(1210-1212)gcG>gcA	p.A404A		NM_016481.3	NP_057565.3	Q9BU70	NAP1_HUMAN	chromosome 9 open reading frame 156	404					interspecies interaction between organisms		hydrolase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)|skin(1)	13		Acute lymphoblastic leukemia(62;0.158)				AAGTGACATGCGCTATGTCTA	0.552													4	164					0	0	1	0	0	T	100667129	C	T	100667129	2	4	423	1	0	0	0	0	0	0	0	1	2483	755	27	1		1	C9orf156	9	100667129	Silent	SNP	C	TCGA-S9-A6UA-01A-12D-A33T-08		100667129	40546302	18	34372											
COL15A1	1306	broad.mit.edu	37	9	101765779	101765779	+	Silent	SNP	C	C	T			TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr9:101765779C>T	ENST00000375001.3	+	8	1533	c.1110C>T	c.(1108-1110)agC>agT	p.S370S		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	370	4 X tandem repeats.|Nonhelical region 1 (NC1).				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				TGCCCATCAGCACTGCTGGAG	0.577													23	175					0	0	1	0	0	T	101765779	C	T	101765779	2	4	423	1	0	0	0	0	0	0	0	1	3695	709	25	2		2	COL15A1	9	101765779	Silent	SNP	C	TCGA-S9-A6UA-01A-12D-A33T-08	1098650	101765779	39447652	19	34373											
MPP7	143098	broad.mit.edu	37	10	28378749	28378749	+	Missense_Mutation	SNP	C	C	T	rs145943944	byFrequency	TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr10:28378749C>T	ENST00000337532.5	-	13	1250	c.974G>A	c.(973-975)cGt>cAt	p.R325H	MPP7_ENST00000375732.1_Missense_Mutation_p.R325H|MPP7_ENST00000445954.2_Missense_Mutation_p.R200H|MPP7_ENST00000375719.3_Missense_Mutation_p.R325H|MPP7_ENST00000540098.1_Missense_Mutation_p.R325H	NM_173496.3	NP_775767.2	Q5T2T1	MPP7_HUMAN	membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7)	325					establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly	MPP7-DLG1-LIN7 complex|tight junction	protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	22						TCTACTAAGACGAAAACTTTT	0.313													15	119					0	0	1	0	0	T	28378749	C	T	28378749	3	4	423	1	0	0	0	0	1	0	0	0	9788	536	19	1	780	1	MPP7	10	28378749	Missense_Mutation	SNP	C	TCGA-S9-A6UA-01A-12D-A33T-08		28378749	107155998	20	34374											
CDH23	64072	broad.mit.edu	37	10	73565576	73565576	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr10:73565576G>A	ENST00000224721.6	+	55	7906	c.7901G>A	c.(7900-7902)cGc>cAc	p.R2634H	CDH23_ENST00000475158.1_3'UTR|CDH23_ENST00000398788.3_Missense_Mutation_p.R389H	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	2629	Cadherin 25.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						ATCCCGCTGCGCTCCAACGTG	0.627													10	30					0	0	1	0	0	A	73565576	G	A	73565576	3	1	423	1	0	0	0	0	1	0	0	0	3130	1087	38	1	8449	1	CDH23	10	73565576	Missense_Mutation	SNP	G	TCGA-S9-A6UA-01A-12D-A33T-08	45186827	73565576	61969171	21	34375											
USP54	159195	broad.mit.edu	37	10	75331188	75331188	+	Silent	SNP	G	G	A			TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr10:75331188G>A	ENST00000339859.4	-	3	331	c.231C>T	c.(229-231)tgC>tgT	p.C77C	USP54_ENST00000394811.2_5'UTR|USP54_ENST00000428547.1_Silent_p.C77C|USP54_ENST00000319786.7_Silent_p.C77C|USP54_ENST00000408019.1_Silent_p.C77C			Q70EL1	UBP54_HUMAN	ubiquitin specific peptidase 54	77					ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity			breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	30	Prostate(51;0.0112)					CCTTGAGAGCGCAAAAGATGC	0.433													4	147					0	0	1	0	0	A	75331188	G	A	75331188	2	1	423	1	0	0	0	0	0	0	0	1	17145	1079	38	1		1	USP54	10	75331188	Silent	SNP	G	TCGA-S9-A6UA-01A-12D-A33T-08	1765612	75331188	60203559	22	34376											
CHST15	51363	broad.mit.edu	37	10	125805699	125805699	+	Silent	SNP	C	C	T			TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr10:125805699C>T	ENST00000346248.5	-	2	672	c.30G>A	c.(28-30)caG>caA	p.Q10Q	CHST15_ENST00000462406.1_5'UTR|CHST15_ENST00000435907.1_Silent_p.Q10Q|CHST15_ENST00000421115.1_Silent_p.Q10Q	NM_015892.4	NP_056976.2	Q7LFX5	CHSTF_HUMAN	carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15	10					hexose biosynthetic process	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity			endometrium(4)|kidney(1)|large_intestine(11)|lung(6)|ovary(3)|stomach(1)	26						CGGGTAACAGCTGTATGCAGC	0.607													8	124					0	0	1	0	0	T	125805699	C	T	125805699	2	4	423	1	0	0	0	0	0	0	0	1	3425	796	28	2		2	CHST15	10	125805699	Silent	SNP	C	TCGA-S9-A6UA-01A-12D-A33T-08	50474511	125805699	9729048	23	34377											
MKI67	4288	broad.mit.edu	37	10	129902953	129902953	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr10:129902953C>T	ENST00000368654.3	-	13	7526	c.7151G>A	c.(7150-7152)gGc>gAc	p.G2384D	MKI67_ENST00000368653.3_Missense_Mutation_p.G2024D	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	2384	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				CATGGCTTTGCCTGCTGATGG	0.458													47	690					0	0	1	0	0	T	129902953	C	T	129902953	3	4	423	1	0	0	0	0	1	0	0	0	9646	739	26	2	2631	2	MKI67	10	129902953	Missense_Mutation	SNP	C	TCGA-S9-A6UA-01A-12D-A33T-08	4097254	129902953	5631794	24	34378											
MUC6	4588	broad.mit.edu	37	11	1023958	1023958	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr11:1023958G>A	ENST00000421673.2	-	25	3421	c.3371C>T	c.(3370-3372)cCg>cTg	p.P1124L		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1124					maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GCAGAAGGCCGGGGTCCTCCA	0.687													3	51					0	0	1	0	0	A	1023958	G	A	1023958	3	1	423	1	0	0	0	0	1	0	0	0	10028	1116	39	1	3984	1	MUC6	11	1023958	Missense_Mutation	SNP	G	TCGA-S9-A6UA-01A-12D-A33T-08		1023958	133982558	25	34379											
ZNF143	7702	broad.mit.edu	37	11	9534059	9534059	+	Silent	SNP	C	C	T			TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr11:9534059C>T	ENST00000396602.2	+	13	1559	c.1440C>T	c.(1438-1440)gaC>gaT	p.D480D	ZNF143_ENST00000299606.2_Silent_p.D452D|ZNF143_ENST00000530463.1_Silent_p.D479D|ZNF143_ENST00000396597.3_Silent_p.D449D|ZNF143_ENST00000396604.1_Silent_p.D479D	NM_001282656.1|NM_001282657.1|NM_003442.5	NP_001269585.1|NP_001269586.1|NP_003433.3	P52747	ZN143_HUMAN	zinc finger protein 143	480					regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding|zinc ion binding	p.D480D(1)		endometrium(1)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	13				all cancers(16;4.12e-09)|Epithelial(150;2.29e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0212)		AAGGGGACGACGTTGTTTCTA	0.418													38	244					0	0	1	0	0	T	9534059	C	T	9534059	2	4	423	1	0	0	0	0	0	0	0	1	17790	535	19	1		1	ZNF143	11	9534059	Silent	SNP	C	TCGA-S9-A6UA-01A-12D-A33T-08	8510101	9534059	125472457	26	34380											
ABCG4	64137	broad.mit.edu	37	11	119031673	119031673	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr11:119031673C>T	ENST00000307417.3	+	15	2162	c.1798C>T	c.(1798-1800)Cgg>Tgg	p.R600W	ABCG4_ENST00000531739.1_Missense_Mutation_p.R600W|ABCG4_ENST00000449422.2_Missense_Mutation_p.R600W	NM_022169.4	NP_071452.2	Q9H172	ABCG4_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 4	600	ABC transmembrane type-2.				cholesterol efflux	integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1)	44	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		CTGCCCGTTCCGGGAGCCACA	0.572													6	63					0	0	1	0	0	T	119031673	C	T	119031673	3	4	423	1	0	0	0	0	1	0	0	0	70	643	23	1	1852	1	ABCG4	11	119031673	Missense_Mutation	SNP	C	TCGA-S9-A6UA-01A-12D-A33T-08	109497614	119031673	15974843	27	34381											
C1RL	51279	broad.mit.edu	37	12	7261741	7261741	+	Missense_Mutation	SNP	C	C	G			TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr12:7261741C>G	ENST00000266542.4	-	1	128	c.36G>C	c.(34-36)tgG>tgC	p.W12C	C1RL-AS1_ENST00000382215.3_RNA|C1RL-AS1_ENST00000435921.2_RNA|C1RL_ENST00000544702.1_Missense_Mutation_p.W12C|C1RL-AS1_ENST00000541775.1_RNA|C1RL_ENST00000545280.1_Missense_Mutation_p.W12C|C1RL_ENST00000545337.1_Missense_Mutation_p.W12C|C1RL-AS1_ENST00000536679.1_RNA	NM_016546.2	NP_057630.2	Q9NZP8	C1RL_HUMAN	complement component 1, r subcomponent-like	12					complement activation, classical pathway|innate immune response|proteolysis		serine-type endopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						GAGGGCTTCTCCAGAGATATT	0.602											OREG0021648	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	17					0	0	1	0	0	G	7261741	C	G	7261741	3	3	423	1	0	0	0	0	1	0	0	0	1986	856	30	5	1451	5	C1RL	12	7261741	Missense_Mutation	SNP	C	TCGA-S9-A6UA-01A-12D-A33T-08		7261741	126590154	28	34382											
SLCO1A2	6579	broad.mit.edu	37	12	21453315	21453315	+	Missense_Mutation	SNP	C	C	G			TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr12:21453315C>G	ENST00000307378.6	-	9	1597	c.877G>C	c.(877-879)Gag>Cag	p.E293Q	SLCO1A2_ENST00000390670.3_Missense_Mutation_p.E291Q|SLCO1A2_ENST00000537524.1_Missense_Mutation_p.E161Q|SLCO1A2_ENST00000452078.1_Missense_Mutation_p.E293Q|SLCO1A2_ENST00000458504.1_Missense_Mutation_p.E161Q	NM_134431.3	NP_602307.1	P46721	SO1A2_HUMAN	solute carrier organic anion transporter family, member 1A2	293					bile acid metabolic process|sodium-independent organic anion transport	integral to membrane|plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1)	48						TTCTTGACCTCTTCTTTTTGT	0.299													4	60					0	0	1	0	0	G	21453315	C	G	21453315	3	3	423	1	0	0	0	0	1	0	0	0	14777	922	32	4	1167	4	SLCO1A2	12	21453315	Missense_Mutation	SNP	C	TCGA-S9-A6UA-01A-12D-A33T-08	14191574	21453315	112398580	29	34383											
WIBG	84305	broad.mit.edu	37	12	56297190	56297190	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr12:56297190G>A	ENST00000408946.2	-	2	263	c.112C>T	c.(112-114)Ccc>Tcc	p.P38S	WIBG_ENST00000557259.1_3'UTR|WIBG_ENST00000547925.1_3'UTR|WIBG_ENST00000302533.6_5'UTR|WIBG_ENST00000398213.4_Missense_Mutation_p.P37S	NM_032345.2	NP_115721.1	Q9BRP8	WIBG_HUMAN	within bgcn homolog (Drosophila)	38					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation	cytoplasm|exon-exon junction complex|nucleolus|nucleoplasm	protein binding|ribosome binding|RNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5						TCCTCCTGGGGCACATATCCT	0.493													12	151					0	0	1	0	0	A	56297190	G	A	56297190	3	1	423	1	0	0	0	0	1	0	0	0	17425	1203	42	2	510	2	WIBG	12	56297190	Missense_Mutation	SNP	G	TCGA-S9-A6UA-01A-12D-A33T-08	34843875	56297190	77554705	30	34384											
KERA	11081	broad.mit.edu	37	12	91449700	91449700	+	Missense_Mutation	SNP	A	A	G	rs145871038		TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr12:91449700A>G	ENST00000266719.3	-	2	606	c.359T>C	c.(358-360)cTg>cCg	p.L120P		NM_007035.3	NP_008966.1	O60938	KERA_HUMAN	keratocan	120					response to stimulus|visual perception	proteinaceous extracellular matrix				breast(2)|large_intestine(8)|lung(5)|prostate(2)|skin(2)	19						CAACTTCTTCAGCTGGCTTAG	0.383													69	266					0	0	1	0	0	G	91449700	A	G	91449700	3	3	423	1	0	0	0	0	1	0	0	0	8186	188	7	3	707	3	KERA	12	91449700	Missense_Mutation	SNP	A	TCGA-S9-A6UA-01A-12D-A33T-08	35152510	91449700	42402195	31	34385											
GNPTAB	79158	broad.mit.edu	37	12	102158081	102158081	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr12:102158081C>T	ENST00000299314.7	-	13	2876	c.2614G>A	c.(2614-2616)Gtt>Att	p.V872I		NM_024312.4	NP_077288.2	Q3T906	GNPTA_HUMAN	N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits	872					cell differentiation	Golgi membrane|integral to membrane|nucleus	metal ion binding|transcription factor binding|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	37						ACTTCAGTAACGCCTATGTGA	0.383													33	688					0	0	1	0	0	T	102158081	C	T	102158081	3	4	423	1	0	0	0	0	1	0	0	0	6587	536	19	1	1192	1	GNPTAB	12	102158081	Missense_Mutation	SNP	C	TCGA-S9-A6UA-01A-12D-A33T-08	10708381	102158081	31693814	32	34386											
XPO4	64328	broad.mit.edu	37	13	21361632	21361632	+	Silent	SNP	C	C	T			TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr13:21361632C>T	ENST00000400602.2	-	21	3188	c.3153G>A	c.(3151-3153)cgG>cgA	p.R1051R	XPO4_ENST00000255305.6_Silent_p.R1051R	NM_022459.4	NP_071904.4	Q9C0E2	XPO4_HUMAN	exportin 4	1051					protein transport	cytoplasm|nucleus	protein binding			breast(1)|endometrium(10)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	41		all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548)		TAAGAAAGTGCCGTGTTGCTA	0.458													5	159					0	0	1	0	0	T	21361632	C	T	21361632	2	4	423	1	0	0	0	0	0	0	0	1	17506	726	26	2		2	XPO4	13	21361632	Silent	SNP	C	TCGA-S9-A6UA-01A-12D-A33T-08		21361632	93808246	33	34387											
RCBTB2	1102	broad.mit.edu	37	13	49075985	49075985	+	Silent	SNP	T	T	C			TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr13:49075985T>C	ENST00000344532.3	-	12	1560	c.1137A>G	c.(1135-1137)acA>acG	p.T379T	RCBTB2_ENST00000430805.2_Silent_p.T384T|RCBTB2_ENST00000544492.1_Silent_p.T105T	NM_001268.2	NP_001259.1	O95199	RCBT2_HUMAN	regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 2	379							Ran guanyl-nucleotide exchange factor activity			breast(5)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(3)	31		all_cancers(8;4.86e-71)|all_epithelial(8;2.11e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;2.3e-10)|Lung NSC(96;1.07e-07)|Breast(56;1.53e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.00826)|Myeloproliferative disorder(33;0.0179)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(99;1.8e-09)|LUSC - Lung squamous cell carcinoma(3;0.116)		ACTCAGCCACTGTGAGGTGGT	0.438													11	58					0	0	1	0	0	C	49075985	T	C	49075985	2	2	423	1	0	0	0	0	0	0	0	1	13224	1567	55	3		3	RCBTB2	13	49075985	Silent	SNP	T	TCGA-S9-A6UA-01A-12D-A33T-08	27714353	49075985	66093893	34	34388											
TDRD9	122402	broad.mit.edu	37	14	104492043	104492043	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr14:104492043C>T	ENST00000409874.4	+	26	2909	c.2861C>T	c.(2860-2862)cCt>cTt	p.P954L	TDRD9_ENST00000339063.5_Missense_Mutation_p.P954L	NM_153046.2	NP_694591.2	Q8NDG6	TDRD9_HUMAN	tudor domain containing 9	954	Tudor.				cell differentiation|DNA methylation involved in gamete generation|fertilization|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	nucleus|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0768)				TGTCTGGCACCTTTTGCTGAT	0.438													33	447					0	0	1	0	0	T	104492043	C	T	104492043	3	4	423	1	0	0	0	0	1	0	0	0	15795	681	24	2	2963	2	TDRD9	14	104492043	Missense_Mutation	SNP	C	TCGA-S9-A6UA-01A-12D-A33T-08		104492043	2857497	35	34389											
NR2E3	10002	broad.mit.edu	37	15	72104223	72104224	+	RNA	INS	-	-	G			TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr15:72104223_72104224insG	ENST00000398840.2	+	0	539							Q9Y5X4	NR2E3_HUMAN	nuclear receptor subfamily 2, group E, member 3						phototransduction|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription from RNA polymerase II promoter|visual perception	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			breast(1)|endometrium(1)|lung(1)	3						AGGCGGGGGCTGGCCCGGGGGG	0.693													2	4	---	---	---	---						G	72104224	-	G	72104223	6	5	423	0	1	1	1	0	0	0	0	0	10674	1595	55	0		0	NR2E3	15	72104223	RNA	INS	-	TCGA-S9-A6UA-01A-12D-A33T-08		72104223	30427169	36	34390											
RHBDF1	64285	broad.mit.edu	37	16	113631	113631	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr16:113631G>A	ENST00000262316.6	-	4	558	c.416C>T	c.(415-417)aCg>aTg	p.T139M	RHBDF1_ENST00000454039.2_Missense_Mutation_p.T139M	NM_022450.3	NP_071895.3	Q96CC6	RHDF1_HUMAN	rhomboid 5 homolog 1 (Drosophila)	139					cell migration|cell proliferation|negative regulation of protein secretion|protein transport|proteolysis|regulation of epidermal growth factor receptor signaling pathway|regulation of proteasomal protein catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	growth factor binding|serine-type endopeptidase activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	18		all_cancers(16;2.56e-05)|all_epithelial(16;0.000116)|Hepatocellular(780;0.0068)|Lung NSC(18;0.0795)|all_lung(18;0.159)				TGGGGGTGGCGTCTCGGTGCT	0.667													33	92					0	0	1	0	0	A	113631	G	A	113631	3	1	423	1	0	0	0	0	1	0	0	0	13369	1145	40	1	2211	1	RHBDF1	16	113631	Missense_Mutation	SNP	G	TCGA-S9-A6UA-01A-12D-A33T-08		113631	90241122	37	34391											
CLDN6	9074	broad.mit.edu	37	16	3065626	3065626	+	Silent	SNP	G	G	A			TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr16:3065626G>A	ENST00000396925.1	-	3	825	c.397C>T	c.(397-399)Cta>Tta	p.L133L	CLDN6_ENST00000328796.4_Silent_p.L133L|CLDN6_ENST00000572154.1_Intron			P56747	CLD6_HUMAN	claudin 6	133					calcium-independent cell-cell adhesion	integral to membrane|tight junction	identical protein binding|structural molecule activity			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	10						ACGGGGATTAGCGTCAGGACC	0.607													10	72					0	0	1	0	0	A	3065626	G	A	3065626	2	1	423	1	0	0	0	0	0	0	0	1	3512	962	34	2		2	CLDN6	16	3065626	Silent	SNP	G	TCGA-S9-A6UA-01A-12D-A33T-08	2951995	3065626	87289127	38	34392											
ZNF646	9726	broad.mit.edu	37	16	31090150	31090150	+	Silent	SNP	C	C	T			TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr16:31090150C>T	ENST00000394979.2	+	1	2928	c.2505C>T	c.(2503-2505)ggC>ggT	p.G835G	ZNF646_ENST00000300850.5_Silent_p.G835G			O15015	ZN646_HUMAN	zinc finger protein 646	835					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						ATGCCACTGGCCTGCTGAGCC	0.622													52	160					0	0	1	0	0	T	31090150	C	T	31090150	2	4	423	1	0	0	0	0	0	0	0	1	18119	726	26	2		2	ZNF646	16	31090150	Silent	SNP	C	TCGA-S9-A6UA-01A-12D-A33T-08	28024524	31090150	59264603	39	34393											
SIAH1	6477	broad.mit.edu	37	16	48395776	48395776	+	Missense_Mutation	SNP	G	G	C			TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr16:48395776G>C	ENST00000380006.2	-	1	2017	c.564C>G	c.(562-564)caC>caG	p.H188Q	SIAH1_ENST00000394725.2_Missense_Mutation_p.H188Q|SIAH1_ENST00000356721.3_Missense_Mutation_p.H219Q			Q8IUQ4	SIAH1_HUMAN	siah E3 ubiquitin protein ligase 1	188	SBD.				axon guidance|cell cycle|neuron apoptosis|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|spermatogenesis	beta-catenin destruction complex|cytosol|nucleus	protein C-terminus binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|stomach(1)	7		all_cancers(37;0.157)|all_lung(18;0.11)|Breast(268;0.238)				CTAACATGAAGTGAAAGCCAA	0.423													19	198					0	0	1	0	0	C	48395776	G	C	48395776	3	2	423	1	0	0	0	0	1	0	0	0	14354	1020	36	4	288	4	SIAH1	16	48395776	Missense_Mutation	SNP	G	TCGA-S9-A6UA-01A-12D-A33T-08	17305626	48395776	41958977	40	34394											
CHD9	80205	broad.mit.edu	37	16	53279712	53279712	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr16:53279712A>G	ENST00000566029.1	+	15	3613	c.3404A>G	c.(3403-3405)aAt>aGt	p.N1135S	CHD9_ENST00000447540.1_Missense_Mutation_p.N1135S|CHD9_ENST00000564845.1_Missense_Mutation_p.N1135S|CHD9_ENST00000398510.3_Missense_Mutation_p.N1135S			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	1135					cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				AACTTGGTCAATACCATGATG	0.313													17	91					0	0	1	0	0	G	53279712	A	G	53279712	3	3	423	1	0	0	0	0	1	0	0	0	3354	101	4	3	3458	3	CHD9	16	53279712	Missense_Mutation	SNP	A	TCGA-S9-A6UA-01A-12D-A33T-08	4883936	53279712	37075041	41	34395											
RABEP1	9135	broad.mit.edu	37	17	5264854	5264854	+	Missense_Mutation	SNP	C	C	A			TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr17:5264854C>A	ENST00000262477.6	+	9	1671	c.1447C>A	c.(1447-1449)Caa>Aaa	p.Q483K	NUP88_ENST00000573169.1_5'UTR|RABEP1_ENST00000408982.2_Missense_Mutation_p.Q483K|RABEP1_ENST00000537505.1_Missense_Mutation_p.Q440K|RABEP1_ENST00000341923.6_Missense_Mutation_p.Q483K|RABEP1_ENST00000546142.2_Missense_Mutation_p.Q483K	NM_004703.4	NP_004694.2	Q15276	RABE1_HUMAN	rabaptin, RAB GTPase binding effector protein 1	483					apoptosis|cellular membrane fusion|endocytosis|protein transport	centrosome|early endosome|endocytic vesicle|recycling endosome	growth factor activity|GTPase activator activity|protein homodimerization activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	8						GACACCAGAACAAGAAGAGAC	0.478													41	75					1.57019e-19	1.66256e-19	1	1	0	A	5264854	C	A	5264854	3	1	423	1	0	0	0	0	1	0	0	0	13013	479	17	5	1481	5	RABEP1	17	5264854	Missense_Mutation	SNP	C	TCGA-S9-A6UA-01A-12D-A33T-08		5264854	75930356	42	34396											
PER1	5187	broad.mit.edu	37	17	8047182	8047182	+	Missense_Mutation	SNP	C	C	A			TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr17:8047182C>A	ENST00000317276.4	-	19	2711	c.2474G>T	c.(2473-2475)gGc>gTc	p.G825V	PER1_ENST00000581082.1_Missense_Mutation_p.G802V|PER1_ENST00000578089.1_5'UTR	NM_002616.2	NP_002607.2	O15534	PER1_HUMAN	period circadian clock 1	825					circadian rhythm|entrainment of circadian clock|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						GGGTGCGGGGCCGTGGTGGCA	0.647			T	ETV6	"AML, CMML"			Other conserved DNA damage response genes					30	95					1.57351e-24	1.69094e-24	1	1	0	A	8047182	C	A	8047182	3	1	423	1	0	0	0	0	1	0	0	0	11776	739	26	5	1418	5	PER1	17	8047182	Missense_Mutation	SNP	C	TCGA-S9-A6UA-01A-12D-A33T-08	2782328	8047182	73148028	43	34397											
NF1	4763	broad.mit.edu	37	17	29527570	29527571	+	Frame_Shift_Ins	INS	-	-	T			TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr17:29527570_29527571insT	ENST00000358273.4	+	9	1402_1403	c.1019_1020insT	c.(1018-1023)tctgtcfs	p.V341fs	NF1_ENST00000356175.3_Frame_Shift_Ins_p.V341fs|NF1_ENST00000431387.4_Frame_Shift_Ins_p.V341fs	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	341					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(6)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		GAAGATAACTCTGTCATTTTCC	0.381			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			66	160	---	---	---	---						T	29527571	-	T	29527570	7	5	423	1	0	1	1	0	0	0	0	0	10403	913	32	0	1053	0	NF1	17	29527570	Frame_Shift_Ins	INS	-	TCGA-S9-A6UA-01A-12D-A33T-08	21480388	29527570	51667640	44	34398											
NF1	4763	broad.mit.edu	37	17	29684022	29684022	+	Nonsense_Mutation	SNP	A	A	T			TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr17:29684022A>T	ENST00000358273.4	+	53	8166	c.7783A>T	c.(7783-7785)Aaa>Taa	p.K2595*	NF1_ENST00000417592.2_3'UTR|NF1_ENST00000356175.3_Nonsense_Mutation_p.K2574*|NF1_ENST00000444181.2_Nonsense_Mutation_p.K388*	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	2595					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(3)|p.K2595E(2)|p.K2595fs*5(1)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		ACATTTACGTAAAGTTTCAGT	0.418			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			92	350					0	0	1	0	0	T	29684022	A	T	29684022	4	4	423	1	0	0	0	0	0	1	0	0	10403	363	13	5	8054	5	NF1	17	29684022	Nonsense_Mutation	SNP	A	TCGA-S9-A6UA-01A-12D-A33T-08	156452	29684022	51511188	45	34399											
TOM1L1	10040	broad.mit.edu	37	17	52993145	52993145	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr17:52993145G>A	ENST00000575882.1	+	7	995	c.642G>A	c.(640-642)atG>atA	p.M214I	TOM1L1_ENST00000540336.1_Missense_Mutation_p.M102I|TOM1L1_ENST00000572405.1_Missense_Mutation_p.M179I|TOM1L1_ENST00000445275.2_Missense_Mutation_p.M214I|TOM1L1_ENST00000575333.1_Missense_Mutation_p.M214I|TOM1L1_ENST00000572158.1_Missense_Mutation_p.M207I|TOM1L1_ENST00000348161.4_Missense_Mutation_p.M137I|TOM1L1_ENST00000570371.1_Missense_Mutation_p.M214I|TOM1L1_ENST00000536554.1_Missense_Mutation_p.M137I	NM_005486.2	NP_005477.2	O75674	TM1L1_HUMAN	target of myb1 (chicken)-like 1	214	GAT.				intracellular protein transport|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway	cytosol|endosome membrane|Golgi stack|lysosome	SH3 domain binding|ubiquitin binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	15						TGGTGAAAATGAATGTGCGAG	0.433													134	194					0	0	1	0	0	A	52993145	G	A	52993145	3	1	423	1	0	0	0	0	1	0	0	0	16412	1290	45	2	668	2	TOM1L1	17	52993145	Missense_Mutation	SNP	G	TCGA-S9-A6UA-01A-12D-A33T-08	23309123	52993145	28202065	46	34400											
PPM1D	8493	broad.mit.edu	37	17	58740542	58740543	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr17:58740542_58740543delAC	ENST00000305921.3	+	6	1679_1680	c.1447_1448delAC	c.(1447-1449)actfs	p.T483fs		NM_003620.3	NP_003611.1	O15297	PPM1D_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1D	483					negative regulation of cell proliferation|protein dephosphorylation|response to radiation	nucleus|protein serine/threonine phosphatase complex	metal ion binding|protein binding|protein serine/threonine phosphatase activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	15	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;6.75e-12)|all cancers(12;1.96e-10)			TAAAGCCCTGACTTTAAGGATA	0.391											OREG0031485	type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)	72	217	---	---	---	---						-	58740543	AC	-	58740542	7	5	423	1	0	1	0	1	0	0	0	0	12386	275	10	0	1469	0	PPM1D	17	58740542	Frame_Shift_Del	DEL	AC	TCGA-S9-A6UA-01A-12D-A33T-08	5747397	58740542	22454668	47	34401											
WIPI1	55062	broad.mit.edu	37	17	66449057	66449057	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr17:66449057C>T	ENST00000262139.5	-	2	156	c.157G>A	c.(157-159)Gga>Aga	p.G53R	WIPI1_ENST00000589459.1_Intron|WIPI1_ENST00000546360.1_Intron	NM_017983.5	NP_060453.3	Q5MNZ9	WIPI1_HUMAN	WD repeat domain, phosphoinositide interacting 1	53					macroautophagy|vesicle targeting, trans-Golgi to endosome	autophagic vacuole membrane|clathrin-coated vesicle|cytosol|endosome membrane|PAS complex|pre-autophagosomal structure membrane|trans-Golgi network	androgen receptor binding|estrogen receptor binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	18						TTACTGCTTCCGTGGACTTGA	0.498													6	149					0	0	1	0	0	T	66449057	C	T	66449057	3	4	423	1	0	0	0	0	1	0	0	0	17430	661	23	1	1231	1	WIPI1	17	66449057	Missense_Mutation	SNP	C	TCGA-S9-A6UA-01A-12D-A33T-08	7708515	66449057	14746153	48	34402											
B3GNTL1	146712	broad.mit.edu	37	17	80923550	80923550	+	Missense_Mutation	SNP	C	C	G	rs142904836		TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr17:80923550C>G	ENST00000576599.1	-	7	994	c.244G>C	c.(244-246)Ggc>Cgc	p.G82R	B3GNTL1_ENST00000320865.3_Missense_Mutation_p.G193R|B3GNTL1_ENST00000571954.1_5'UTR			Q67FW5	B3GNL_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase-like 1	193							transferase activity, transferring glycosyl groups			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	8	Breast(20;0.000443)|all_neural(118;0.0779)	all_cancers(8;0.0396)|all_epithelial(8;0.0556)	BRCA - Breast invasive adenocarcinoma(99;0.0517)|OV - Ovarian serous cystadenocarcinoma(97;0.0868)			TTAAAGGGGCCCACGTGGGAG	0.592													12	17					0	0	1	0	0	G	80923550	C	G	80923550	3	3	423	1	0	0	0	0	1	0	0	0	1263	623	22	5	532	5	B3GNTL1	17	80923550	Missense_Mutation	SNP	C	TCGA-S9-A6UA-01A-12D-A33T-08	14474493	80923550	271660	49	34403											
OR1M1	125963	broad.mit.edu	37	19	9204100	9204100	+	Nonsense_Mutation	SNP	C	C	A			TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr19:9204100C>A	ENST00000429566.3	+	1	246	c.180C>A	c.(178-180)taC>taA	p.Y60*		NM_001004456.1	NP_001004456.1	Q8NGA1	OR1M1_HUMAN	olfactory receptor, family 1, subfamily M, member 1	60					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|large_intestine(3)|lung(17)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						CCCCCATGTACTTCTTCCTGG	0.542													5	179					0.014758	0.0149658	1	1	0	A	9204100	C	A	9204100	4	1	423	1	0	0	0	0	0	1	0	0	11016	576	20	4	182	4	OR1M1	19	9204100	Nonsense_Mutation	SNP	C	TCGA-S9-A6UA-01A-12D-A33T-08		9204100	49924883	50	34404											
PRKCG	5582	broad.mit.edu	37	19	54403579	54403579	+	Splice_Site	SNP	G	G	A			TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr19:54403579G>A	ENST00000263431.3	+	12	1655		c.e12+1		PRKCG_ENST00000540413.1_Splice_Site|PRKCG_ENST00000542049.1_Splice_Site	NM_002739.3	NP_002730.1	P05129	KPCG_HUMAN	protein kinase C, gamma						activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission	cytosol	ATP binding|protein kinase C activity|zinc ion binding	p.?(1)		large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)		CCCATGCAGCGTGAGTCTCGG	0.597													21	64					0	0	1	0	0	A	54403579	G	A	54403579	5	1	423	1	0	0	0	0	0	0	1	0	12564	1159	40	1	1420	1	PRKCG	19	54403579	Splice_Site	SNP	G	TCGA-S9-A6UA-01A-12D-A33T-08	45199479	54403579	4725404	51	34405											
PTPN1	5770	broad.mit.edu	37	20	49197836	49197836	+	Missense_Mutation	SNP	G	G	T	rs138343840	byFrequency	TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr20:49197836G>T	ENST00000371621.3	+	9	1297	c.1123G>T	c.(1123-1125)Gtg>Ttg	p.V375L	PTPN1_ENST00000541713.1_Missense_Mutation_p.V302L	NM_001278618.1|NM_002827.2	NP_001265547.1|NP_002818.1	P18031	PTN1_HUMAN	protein tyrosine phosphatase, non-receptor type 1	375					blood coagulation|interferon-gamma-mediated signaling pathway|negative regulation of insulin receptor signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytosol|endoplasmic reticulum membrane	protein tyrosine phosphatase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|skin(2)	16		Lung NSC(126;0.163)			Clodronate(DB00720)|Tiludronate(DB01133)	AAGTCGGGTCGTGGGGGGAAG	0.557													22	50					3.6726e-16	3.83228e-16	1	1	0	T	49197836	G	T	49197836	3	4	423	1	0	0	0	0	1	0	0	0	12829	1145	40	5	1157	5	PTPN1	20	49197836	Missense_Mutation	SNP	G	TCGA-S9-A6UA-01A-12D-A33T-08		49197836	13827684	52	34406											
SON	6651	broad.mit.edu	37	21	34924118	34924118	+	Missense_Mutation	SNP	A	A	G	rs142324795		TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr21:34924118A>G	ENST00000356577.4	+	3	3056	c.2581A>G	c.(2581-2583)Atg>Gtg	p.M861V	SON_ENST00000300278.4_Missense_Mutation_p.M861V|SON_ENST00000290239.6_Missense_Mutation_p.M861V|SON_ENST00000381692.2_Intron|SON_ENST00000381679.4_Missense_Mutation_p.M861V	NM_138927.1	NP_620305	P18583	SON_HUMAN	SON DNA binding protein	861	17 X 10 AA tandem repeats of L-A-[ST]- [NSG]-[TS]-MDSQM.				anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding			breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						AACTAGCTCAATGGATTCCCA	0.493													13	455					0	0	1	0	0	G	34924118	A	G	34924118	3	3	423	1	0	0	0	0	1	0	0	0	14980	101	4	3	2591	3	SON	21	34924118	Missense_Mutation	SNP	A	TCGA-S9-A6UA-01A-12D-A33T-08		34924118	13205777	53	34407											
RAB36	9609	broad.mit.edu	37	22	23487582	23487582	+	Silent	SNP	T	T	A			TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr22:23487582T>A	ENST00000263116.2	+	1	70	c.30T>A	c.(28-30)ctT>ctA	p.L10L	RAB36_ENST00000341989.4_Silent_p.L10L	NM_004914.2	NP_004905.2	O95755	RAB36_HUMAN	RAB36, member RAS oncogene family	10					protein transport|small GTPase mediated signal transduction	Golgi membrane	GTP binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.155)		GCTGGATGCTTGGACGCGCCG	0.667													9	162					0	0	1	0	0	A	23487582	T	A	23487582	2	1	423	1	0	0	0	0	0	0	0	1	12978	1799	63	5		5	RAB36	22	23487582	Silent	SNP	T	TCGA-S9-A6UA-01A-12D-A33T-08		23487582	27816984	54	34408											
HPS4	89781	broad.mit.edu	37	22	26860001	26860001	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr22:26860001G>A	ENST00000398145.2	-	11	2211	c.1595C>T	c.(1594-1596)gCa>gTa	p.A532V	HPS4_ENST00000398141.1_Missense_Mutation_p.A545V|HPS4_ENST00000336873.5_Missense_Mutation_p.A532V|HPS4_ENST00000402105.3_Missense_Mutation_p.A527V|HPS4_ENST00000493455.2_5'UTR	NM_022081.5	NP_071364.4	Q9NQG7	HPS4_HUMAN	Hermansky-Pudlak syndrome 4	532					lysosome organization|positive regulation of eye pigmentation|protein stabilization|protein targeting	lysosome|melanosome|membrane fraction|platelet dense granule	protein homodimerization activity			breast(2)|endometrium(3)|kidney(5)|large_intestine(4)|lung(12)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	32						GCAGGACTCTGCTGGTGTCAG	0.607									Hermansky-Pudlak syndrome				44	107					0	0	1	0	0	A	26860001	G	A	26860001	3	1	423	1	0	0	0	0	1	0	0	0	7382	1319	46	2	547	2	HPS4	22	26860001	Missense_Mutation	SNP	G	TCGA-S9-A6UA-01A-12D-A33T-08	3372419	26860001	24444565	55	34409											
CLCN4	1183	broad.mit.edu	37	X	10176378	10176378	+	Silent	SNP	C	C	T			TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chrX:10176378C>T	ENST00000380833.4	+	9	1528	c.1137C>T	c.(1135-1137)atC>atT	p.I379I	CLCN4_ENST00000421085.2_Silent_p.I285I|CLCN4_ENST00000380829.1_Silent_p.I348I	NM_001256944.1|NM_001830.3	NP_001243873.1|NP_001821.2	P51793	CLCN4_HUMAN	chloride channel, voltage-sensitive 4	379						early endosome membrane|integral to membrane|late endosome membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						TGACTGCCATCACTGCCATCA	0.582													23	247					0	0	1	0	0	T	10176378	C	T	10176378	2	4	423	1	0	0	0	0	0	0	0	1	3488	816	29	2		2	CLCN4	23	10176378	Silent	SNP	C	TCGA-S9-A6UA-01A-12D-A33T-08		10176378	145094182	56	34410											
ATRX	546	broad.mit.edu	37	X	76920268	76920268	+	Splice_Site	SNP	C	C	T			TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chrX:76920268C>T	ENST00000373344.5	-	11	4024		c.e11-1		ATRX_ENST00000480283.1_Splice_Site|ATRX_ENST00000395603.3_Splice_Site	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked						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)	CTTGGCAATTCTTGAGAGTAA	0.303			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						32	34					0	0	1	0	0	T	76920268	C	T	76920268	5	4	423	1	0	0	0	0	0	0	1	0	1206	927	32	2	3769	2	ATRX	23	76920268	Splice_Site	SNP	C	TCGA-S9-A6UA-01A-12D-A33T-08	66743890	76920268	78350292	57	34411											
RPL10	6134	broad.mit.edu	37	X	153627860	153627860	+	Frame_Shift_Del	DEL	A	A	-			TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chrX:153627860delA	ENST00000424325.2	+	4	303	c.115delA	c.(115-117)aaafs	p.K40fs	RPL10_ENST00000406022.2_5'UTR|RPL10_ENST00000369817.2_Frame_Shift_Del_p.K40fs	NM_001256577.1|NM_001256580.1|NM_006013.3	NP_001243506.1|NP_001243509.1|NP_006004.2	P27635	RL10_HUMAN	ribosomal protein L10	40					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|endoplasmic reticulum	structural constituent of ribosome			large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CCTGGGGCGGAAAAAGGCAAA	0.512											OREG0019957	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	210	---	---	---	---						-	153627860	A	-	153627860	7	5	423	1	0	1	0	1	0	0	0	0	13606	247	9	0	125	0	RPL10	23	153627860	Frame_Shift_Del	DEL	A	TCGA-S9-A6UA-01A-12D-A33T-08	76707592	153627860	1642700	58	34412											
CDC73	79577	broad.mit.edu	37	1	193218979	193218979	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6UB-01A-21D-A33T-08	TCGA-S9-A6UB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365dcb4e-892f-4f2d-ab03-c12d53456e44	f5d9c98d-0660-4659-b8b9-ccd4679de3f4	g.chr1:193218979C>T	ENST00000367435.3	+	16	1721	c.1537C>T	c.(1537-1539)Cgg>Tgg	p.R513W	CDC73_ENST00000477868.1_3'UTR	NM_024529.4	NP_078805.3	Q6P1J9	CDC73_HUMAN	cell division cycle 73	513					cell cycle|histone H2B ubiquitination|histone monoubiquitination|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(14)|ovary(1)|pancreas(1)|parathyroid(51)|skin(1)|upper_aerodigestive_tract(1)	87						AGTGTTCTTACGGTTTTGGGA	0.348													63	106					0	0	1	0	0	T	193218979	C	T	193218979	3	4	424	1	0	0	0	0	1	0	0	0	3107	527	19	1	1599	1	CDC73	1	193218979	Missense_Mutation	SNP	C	TCGA-S9-A6UB-01A-21D-A33T-08		193218979	56031642	1	34413											
TRAF5	7188	broad.mit.edu	37	1	211544684	211544684	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6UB-01A-21D-A33T-08	TCGA-S9-A6UB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365dcb4e-892f-4f2d-ab03-c12d53456e44	f5d9c98d-0660-4659-b8b9-ccd4679de3f4	g.chr1:211544684C>T	ENST00000336184.2	+	10	1031	c.971C>T	c.(970-972)gCt>gTt	p.A324V	TRAF5_ENST00000427925.2_Missense_Mutation_p.A218V|TRAF5_ENST00000367004.3_Missense_Mutation_p.A324V|TRAF5_ENST00000261464.5_Missense_Mutation_p.A324V	NM_004619.3	NP_004610.1	O00463	TRAF5_HUMAN	TNF receptor-associated factor 5	324					apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis	CD40 receptor complex|centrosome|internal side of plasma membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				OV - Ovarian serous cystadenocarcinoma(81;0.00946)|all cancers(67;0.0808)|Epithelial(68;0.144)		TGGCTAGAAGCTCAAGTGCAT	0.318													31	98					0	0	1	0	0	T	211544684	C	T	211544684	3	4	424	1	0	0	0	0	1	0	0	0	16505	797	28	2	1005	2	TRAF5	1	211544684	Missense_Mutation	SNP	C	TCGA-S9-A6UB-01A-21D-A33T-08	18325705	211544684	37705937	2	34414											
APOB	338	broad.mit.edu	37	2	21238368	21238368	+	Missense_Mutation	SNP	G	G	A	rs72653076	byFrequency	TCGA-S9-A6UB-01A-21D-A33T-08	TCGA-S9-A6UB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365dcb4e-892f-4f2d-ab03-c12d53456e44	f5d9c98d-0660-4659-b8b9-ccd4679de3f4	g.chr2:21238368G>A	ENST00000233242.1	-	22	3509	c.3382C>T	c.(3382-3384)Cgt>Tgt	p.R1128C		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	1128			R -> H (in dbSNP:rs12713843).		cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	GCTTGCAAACGGGGTATGGAA	0.453													41	59					0	0	1	0	0	A	21238368	G	A	21238368	3	1	424	1	0	0	0	0	1	0	0	0	782	1116	39	1	10341	1	APOB	2	21238368	Missense_Mutation	SNP	G	TCGA-S9-A6UB-01A-21D-A33T-08		21238368	221961005	3	34415											
KIF5C	3800	broad.mit.edu	37	2	149679717	149679717	+	Silent	SNP	A	A	G			TCGA-S9-A6UB-01A-21D-A33T-08	TCGA-S9-A6UB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365dcb4e-892f-4f2d-ab03-c12d53456e44	f5d9c98d-0660-4659-b8b9-ccd4679de3f4	g.chr2:149679717A>G	ENST00000435030.1	+	2	506	c.138A>G	c.(136-138)ccA>ccG	p.P46P				O60282	KIF5C_HUMAN	kinesin family member 5C	46	Kinesin-motor.				microtubule-based movement|organelle organization	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(221;0.108)		AAGGGAAGCCATATGTCTTCG	0.388													16	35					0	0	1	0	0	G	149679717	A	G	149679717	2	3	424	1	0	0	0	0	0	0	0	1	8349	204	8	3		3	KIF5C	2	149679717	Silent	SNP	A	TCGA-S9-A6UB-01A-21D-A33T-08	128441349	149679717	93519656	4	34416											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-S9-A6UB-01A-21D-A33T-08	TCGA-S9-A6UB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365dcb4e-892f-4f2d-ab03-c12d53456e44	f5d9c98d-0660-4659-b8b9-ccd4679de3f4	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	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								71	102					0	0	1	0	0	T	209113112	C	T	209113112	3	4	424	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-S9-A6UB-01A-21D-A33T-08	59433395	209113112	34086261	5	34417											
GPR149	344758	broad.mit.edu	37	3	154146723	154146727	+	Frame_Shift_Del	DEL	TGGAG	TGGAG	-			TCGA-S9-A6UB-01A-21D-A33T-08	TCGA-S9-A6UB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365dcb4e-892f-4f2d-ab03-c12d53456e44	f5d9c98d-0660-4659-b8b9-ccd4679de3f4	g.chr3:154146723_154146727delTGGAG	ENST00000389740.2	-	1	777_781	c.678_682delCTCCA	c.(676-684)cactccaacfs	p.HSN226fs		NM_001038705.1	NP_001033794.1	Q86SP6	GP149_HUMAN	G protein-coupled receptor 149	226						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.S227S(1)		autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			TCCTGGTAGTTGGAGTGGAGTCTCG	0.595													42	102	---	---	---	---						-	154146727	TGGAG	-	154146723	7	5	424	1	0	1	0	1	0	0	0	0	6694	1812	63	0	1529	0	GPR149	3	154146723	Frame_Shift_Del	DEL	TGGAG	TCGA-S9-A6UB-01A-21D-A33T-08		154146723	43875707	6	34418											
TRA2B	6434	broad.mit.edu	37	3	185637272	185637272	+	Silent	SNP	T	T	A			TCGA-S9-A6UB-01A-21D-A33T-08	TCGA-S9-A6UB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365dcb4e-892f-4f2d-ab03-c12d53456e44	f5d9c98d-0660-4659-b8b9-ccd4679de3f4	g.chr3:185637272T>A	ENST00000453386.2	-	7	1010	c.735A>T	c.(733-735)ggA>ggT	p.G245G	TRA2B_ENST00000382191.4_Silent_p.G145G	NM_004593.2	NP_004584.1	P62995	TRA2B_HUMAN	transformer 2 beta homolog (Drosophila)	245	Arg/Ser-rich (RS2 domain).				nuclear mRNA splicing, via spliceosome	nucleus	nucleotide binding|protein binding|RNA binding			breast(2)|kidney(1)|large_intestine(6)|lung(4)|ovary(3)|prostate(1)|urinary_tract(1)	18						ctcctcctcctccacctcctc	0.393													5	124					0	0	1	0	0	A	185637272	T	A	185637272	2	1	424	1	0	0	0	0	0	0	0	1	16495	1538	54	5		5	TRA2B	3	185637272	Silent	SNP	T	TCGA-S9-A6UB-01A-21D-A33T-08	31490549	185637272	12385158	7	34419											
RNF168	165918	broad.mit.edu	37	3	196229932	196229932	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6UB-01A-21D-A33T-08	TCGA-S9-A6UB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365dcb4e-892f-4f2d-ab03-c12d53456e44	f5d9c98d-0660-4659-b8b9-ccd4679de3f4	g.chr3:196229932G>A	ENST00000318037.3	-	1	707	c.113C>T	c.(112-114)cCg>cTg	p.P38L		NM_152617.3	NP_689830.2	Q8IYW5	RN168_HUMAN	ring finger protein 168, E3 ubiquitin protein ligase	38					double-strand break repair|histone H2A K63-linked ubiquitination|positive regulation of DNA repair|response to ionizing radiation	nucleus|ubiquitin ligase complex	chromatin binding|histone binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding	p.P38Q(1)		NS(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)	20	all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;5.25e-24)|all cancers(36;5.47e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00348)		CTGGAAGCACGGTTTACACAG	0.582													5	184					0	0	1	0	0	A	196229932	G	A	196229932	3	1	424	1	0	0	0	0	1	0	0	0	13511	1116	39	1	1626	1	RNF168	3	196229932	Missense_Mutation	SNP	G	TCGA-S9-A6UB-01A-21D-A33T-08	10592660	196229932	1792498	8	34420											
NIPBL	25836	broad.mit.edu	37	5	36962286	36962286	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6UB-01A-21D-A33T-08	TCGA-S9-A6UB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365dcb4e-892f-4f2d-ab03-c12d53456e44	f5d9c98d-0660-4659-b8b9-ccd4679de3f4	g.chr5:36962286G>A	ENST00000282516.8	+	6	1019	c.520G>A	c.(520-522)Gtg>Atg	p.V174M	NIPBL_ENST00000504430.1_3'UTR|NIPBL_ENST00000448238.2_Missense_Mutation_p.V174M	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	174					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			AAATAGCCCAGTGCCTAGTCC	0.438													181	250					0	0	1	0	0	A	36962286	G	A	36962286	3	1	424	1	0	0	0	0	1	0	0	0	10475	1029	36	2	538	2	NIPBL	5	36962286	Missense_Mutation	SNP	G	TCGA-S9-A6UB-01A-21D-A33T-08		36962286	143952974	9	34421											
ZNF366	167465	broad.mit.edu	37	5	71756109	71756109	+	Silent	SNP	C	C	T			TCGA-S9-A6UB-01A-21D-A33T-08	TCGA-S9-A6UB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365dcb4e-892f-4f2d-ab03-c12d53456e44	f5d9c98d-0660-4659-b8b9-ccd4679de3f4	g.chr5:71756109C>T	ENST00000318442.5	-	2	1705	c.1215G>A	c.(1213-1215)ccG>ccA	p.P405P		NM_152625.1	NP_689838.1	Q8N895	ZN366_HUMAN	zinc finger protein 366	405					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		GCAGCTGGCTCGGGTACTGGA	0.597													37	38					0	0	1	0	0	T	71756109	C	T	71756109	2	4	424	1	0	0	0	0	0	0	0	1	17927	871	31	1		1	ZNF366	5	71756109	Silent	SNP	C	TCGA-S9-A6UB-01A-21D-A33T-08	34793823	71756109	109159151	10	34422											
PCDHA1	56147	broad.mit.edu	37	5	140167257	140167257	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6UB-01A-21D-A33T-08	TCGA-S9-A6UB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365dcb4e-892f-4f2d-ab03-c12d53456e44	f5d9c98d-0660-4659-b8b9-ccd4679de3f4	g.chr5:140167257C>T	ENST00000504120.2	+	1	1382	c.1382C>T	c.(1381-1383)aCa>aTa	p.T461I	PCDHA1_ENST00000394633.3_Missense_Mutation_p.T461I|PCDHA1_ENST00000378133.3_Missense_Mutation_p.T461I	NM_018900.2	NP_061723.1														breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCGAGTACACAGTATTCGTG	0.672													94	132					0	0	1	0	0	T	140167257	C	T	140167257	3	4	424	1	0	0	0	0	1	0	0	0	11566	478	17	2	1384	2	PCDHA1	5	140167257	Missense_Mutation	SNP	C	TCGA-S9-A6UB-01A-21D-A33T-08	68411148	140167257	40748003	11	34423											
MAPK9	5601	broad.mit.edu	37	5	179674427	179674427	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6UB-01A-21D-A33T-08	TCGA-S9-A6UB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365dcb4e-892f-4f2d-ab03-c12d53456e44	f5d9c98d-0660-4659-b8b9-ccd4679de3f4	g.chr5:179674427G>A	ENST00000425491.2	-	7	866	c.700C>T	c.(700-702)Cgc>Tgc	p.R234C	MAPK9_ENST00000343111.6_Intron|MAPK9_ENST00000524170.1_Intron|MAPK9_ENST00000455781.1_Intron|MAPK9_ENST00000539014.1_3'UTR|MAPK9_ENST00000393360.3_Intron|MAPK9_ENST00000397072.3_Intron|MAPK9_ENST00000452135.2_Intron|MAPK9_ENST00000347470.4_Intron	NM_001135044.1	NP_001128516.1	P45984	MK09_HUMAN	mitogen-activated protein kinase 9	0	Protein kinase.				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|JUN kinase activity|protein binding			central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(89;6.54e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0236)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCAAGGTCGCGGGGAAGGATA	0.502													4	66					0	0	1	0	0	A	179674427	G	A	179674427	3	1	424	1	0	0	0	0	1	0	0	0	9337	1116	39	1	644	1	MAPK9	5	179674427	Missense_Mutation	SNP	G	TCGA-S9-A6UB-01A-21D-A33T-08	39507170	179674427	1240833	12	34424											
HIVEP1	3096	broad.mit.edu	37	6	12123517	12123517	+	Silent	SNP	G	G	A			TCGA-S9-A6UB-01A-21D-A33T-08	TCGA-S9-A6UB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365dcb4e-892f-4f2d-ab03-c12d53456e44	f5d9c98d-0660-4659-b8b9-ccd4679de3f4	g.chr6:12123517G>A	ENST00000379388.2	+	4	3821	c.3489G>A	c.(3487-3489)caG>caA	p.Q1163Q		NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	1163					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				TTTCTTTCCAGGAGCTGAATA	0.522													37	62					0	0	1	0	0	A	12123517	G	A	12123517	2	1	424	1	0	0	0	0	0	0	0	1	7227	991	35	2		2	HIVEP1	6	12123517	Silent	SNP	G	TCGA-S9-A6UB-01A-21D-A33T-08		12123517	158991550	13	34425											
HIST1H2BA	255626	broad.mit.edu	37	6	25727377	25727377	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6UB-01A-21D-A33T-08	TCGA-S9-A6UB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365dcb4e-892f-4f2d-ab03-c12d53456e44	f5d9c98d-0660-4659-b8b9-ccd4679de3f4	g.chr6:25727377C>T	ENST00000274764.2	+	1	241	c.241C>T	c.(241-243)Cgt>Tgt	p.R81C		NM_170610.2	NP_733759.1	Q96A08	H2B1A_HUMAN	histone cluster 1, H2ba	81					nucleosome assembly	nucleosome|nucleus	DNA binding			breast(1)|kidney(1)	2						CGAGGCATCACGTTTGGCTCA	0.507													4	156					0	0	1	0	0	T	25727377	C	T	25727377	3	4	424	1	0	0	0	0	1	0	0	0	7181	536	19	1	243	1	HIST1H2BA	6	25727377	Missense_Mutation	SNP	C	TCGA-S9-A6UB-01A-21D-A33T-08	13603860	25727377	145387690	14	34426											
KIAA1586	57691	broad.mit.edu	37	6	56918978	56918979	+	Frame_Shift_Ins	INS	-	-	T			TCGA-S9-A6UB-01A-21D-A33T-08	TCGA-S9-A6UB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365dcb4e-892f-4f2d-ab03-c12d53456e44	f5d9c98d-0660-4659-b8b9-ccd4679de3f4	g.chr6:56918978_56918979insT	ENST00000370733.4	+	4	1888_1889	c.1681_1682insT	c.(1681-1683)atafs	p.I561fs	KIAA1586_ENST00000545356.1_Frame_Shift_Ins_p.I534fs	NM_020931.2	NP_065982.1	Q9HCI6	K1586_HUMAN	KIAA1586	561							nucleic acid binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|skin(1)	18	Lung NSC(77;0.0969)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			CAAACGTACCATAAGAGCTTTG	0.267													52	57	---	---	---	---						T	56918979	-	T	56918978	7	5	424	1	0	1	1	0	0	0	0	0	8287	217	8	0	1695	0	KIAA1586	6	56918978	Frame_Shift_Ins	INS	-	TCGA-S9-A6UB-01A-21D-A33T-08	31191601	56918978	114196089	15	34427											
BVES	11149	broad.mit.edu	37	6	105573335	105573335	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A6UB-01A-21D-A33T-08	TCGA-S9-A6UB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365dcb4e-892f-4f2d-ab03-c12d53456e44	f5d9c98d-0660-4659-b8b9-ccd4679de3f4	g.chr6:105573335T>C	ENST00000314641.5	-	4	686	c.470A>G	c.(469-471)aAg>aGg	p.K157R	BVES_ENST00000446408.2_Missense_Mutation_p.K157R|BVES_ENST00000336775.5_Missense_Mutation_p.K157R	NM_001199563.1	NP_001186492.1	Q8NE79	POPD1_HUMAN	blood vessel epicardial substance	157					epithelial cell-cell adhesion|muscle organ development|positive regulation of locomotion|positive regulation of receptor recycling|regulation of Cdc42 GTPase activity|regulation of cell shape|regulation of Rac GTPase activity|substrate adhesion-dependent cell spreading|vesicle-mediated transport	integral to membrane|lateral plasma membrane|tight junction	structural molecule activity	p.K157R(1)		NS(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|urinary_tract(1)	21		all_cancers(87;2.83e-05)|Acute lymphoblastic leukemia(125;1.95e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0101)|Colorectal(196;0.204)|Lung NSC(302;0.238)				AGTTTGGCCCTTTTTCAAGGT	0.438													5	378					0	0	1	0	0	C	105573335	T	C	105573335	3	2	424	1	0	0	0	0	1	0	0	0	1578	1609	56	3	632	3	BVES	6	105573335	Missense_Mutation	SNP	T	TCGA-S9-A6UB-01A-21D-A33T-08	48654357	105573335	65541732	16	34428											
OR2A2	442361	broad.mit.edu	37	7	143806961	143806961	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A6UB-01A-21D-A33T-08	TCGA-S9-A6UB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365dcb4e-892f-4f2d-ab03-c12d53456e44	f5d9c98d-0660-4659-b8b9-ccd4679de3f4	g.chr7:143806961T>C	ENST00000408979.2	+	1	355	c.286T>C	c.(286-288)Tgc>Cgc	p.C96R		NM_001005480.2	NP_001005480.2	Q6IF42	OR2A2_HUMAN	olfactory receptor, family 2, subfamily A, member 2	96					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4)	22	Melanoma(164;0.0783)					CTTTGTTCCATGCATAATGCA	0.433													5	354					0	0	1	0	0	C	143806961	T	C	143806961	3	2	424	1	0	0	0	0	1	0	0	0	11025	1464	51	3	288	3	OR2A2	7	143806961	Missense_Mutation	SNP	T	TCGA-S9-A6UB-01A-21D-A33T-08		143806961	15331702	17	34429											
OR13F1	138805	broad.mit.edu	37	9	107266930	107266930	+	Silent	SNP	C	C	T			TCGA-S9-A6UB-01A-21D-A33T-08	TCGA-S9-A6UB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365dcb4e-892f-4f2d-ab03-c12d53456e44	f5d9c98d-0660-4659-b8b9-ccd4679de3f4	g.chr9:107266930C>T	ENST00000334726.2	+	1	476	c.387C>T	c.(385-387)ccC>ccT	p.P129P		NM_001004485.1	NP_001004485.1	Q8NGS4	O13F1_HUMAN	olfactory receptor, family 13, subfamily F, member 1	129					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						TCTGCAACCCCCTGAGATACC	0.552													61	65					0	0	1	0	0	T	107266930	C	T	107266930	2	4	424	1	0	0	0	0	0	0	0	1	10989	610	22	2		2	OR13F1	9	107266930	Silent	SNP	C	TCGA-S9-A6UB-01A-21D-A33T-08		107266930	33946501	18	34430											
TUBB8	347688	broad.mit.edu	37	10	93719	93719	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6UB-01A-21D-A33T-08	TCGA-S9-A6UB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365dcb4e-892f-4f2d-ab03-c12d53456e44	f5d9c98d-0660-4659-b8b9-ccd4679de3f4	g.chr10:93719C>T	ENST00000447903.2	-	4	712	c.397G>A	c.(397-399)Gaa>Aaa	p.E133K	TUBB8_ENST00000332708.5_3'UTR|TUBB8_ENST00000309812.4_Missense_Mutation_p.E205K|TUBB8_ENST00000413237.3_5'UTR			Q3ZCM7	TBB8_HUMAN	tubulin, beta 8 class VIII	205					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity	p.E205K(1)		NS(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(3)|stomach(1)	32		all_cancers(4;0.00131)|all_lung(4;0.000777)|Lung NSC(4;0.0043)|all_epithelial(10;0.0154)|Colorectal(49;0.235)		Epithelial(11;0.00341)|all cancers(11;0.00922)|OV - Ovarian serous cystadenocarcinoma(14;0.0508)|Lung(33;0.132)		TACAGAGCTTCGTTATCTATG	0.537													8	290					0	0	1	0	0	T	93719	C	T	93719	3	4	424	1	0	0	0	0	1	0	0	0	16823	893	31	1	725	1	TUBB8	10	93719	Missense_Mutation	SNP	C	TCGA-S9-A6UB-01A-21D-A33T-08		93719	135441028	19	34431											
PFKP	5214	broad.mit.edu	37	10	3143689	3143689	+	Missense_Mutation	SNP	G	G	A	rs11542782		TCGA-S9-A6UB-01A-21D-A33T-08	TCGA-S9-A6UB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365dcb4e-892f-4f2d-ab03-c12d53456e44	f5d9c98d-0660-4659-b8b9-ccd4679de3f4	g.chr10:3143689G>A	ENST00000381075.2	+	6	597	c.373G>A	c.(373-375)Ggg>Agg	p.G125R	PFKP_ENST00000421751.1_3'UTR|PFKP_ENST00000381125.4_Missense_Mutation_p.G133R	NM_001242339.1	NP_001229268.1	Q01813	K6PP_HUMAN	phosphofructokinase, platelet	133					glycolysis	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|metal ion binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(1;0.000975)|all cancers(11;0.00351)|Epithelial(11;0.142)		GAGCCTCACCGGGGCCAACCT	0.667													8	20					0	0	1	0	0	A	3143689	G	A	3143689	3	1	424	1	0	0	0	0	1	0	0	0	11814	1116	39	1	411	1	PFKP	10	3143689	Missense_Mutation	SNP	G	TCGA-S9-A6UB-01A-21D-A33T-08	3049970	3143689	132391058	20	34432											
VCL	7414	broad.mit.edu	37	10	75877843	75877843	+	Silent	SNP	G	G	A			TCGA-S9-A6UB-01A-21D-A33T-08	TCGA-S9-A6UB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365dcb4e-892f-4f2d-ab03-c12d53456e44	f5d9c98d-0660-4659-b8b9-ccd4679de3f4	g.chr10:75877843G>A	ENST00000211998.4	+	22	3415	c.3321G>A	c.(3319-3321)cgG>cgA	p.R1107R	VCL_ENST00000417648.2_Silent_p.R300R|VCL_ENST00000372755.3_Silent_p.R1039R	NM_014000.2	NP_054706.1	P18206	VINC_HUMAN	vinculin	1107	C-terminal tail.				adherens junction assembly|apical junction assembly|cell-matrix adhesion|cellular component movement|epithelial cell-cell adhesion|lamellipodium assembly|morphogenesis of an epithelium|muscle contraction|negative regulation of cell migration|platelet activation|platelet degranulation|protein localization at cell surface	costamere|cytosol|extracellular region|focal adhesion	actin binding|alpha-catenin binding|beta-catenin binding|beta-dystroglycan binding|cadherin binding|structural molecule activity		VCL/ALK(4)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20	Prostate(51;0.0112)					AGACTGTGCGGGAAGCTGAAG	0.522													5	268					0	0	1	0	0	A	75877843	G	A	75877843	2	1	424	1	0	0	0	0	0	0	0	1	17199	1219	43	2		2	VCL	10	75877843	Silent	SNP	G	TCGA-S9-A6UB-01A-21D-A33T-08	72734154	75877843	59656904	21	34433											
ENTPD1	953	broad.mit.edu	37	10	97583115	97583115	+	Silent	SNP	C	C	T			TCGA-S9-A6UB-01A-21D-A33T-08	TCGA-S9-A6UB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365dcb4e-892f-4f2d-ab03-c12d53456e44	f5d9c98d-0660-4659-b8b9-ccd4679de3f4	g.chr10:97583115C>T	ENST00000371207.3	+	2	237	c.174C>T	c.(172-174)aaC>aaT	p.N58N	ENTPD1_ENST00000543964.1_Intron|ENTPD1_ENST00000539125.1_5'UTR|ENTPD1_ENST00000371203.5_5'UTR|ENTPD1-AS1_ENST00000416301.1_RNA|ENTPD1_ENST00000490659.1_3'UTR|ENTPD1_ENST00000453258.2_Silent_p.N53N|ENTPD1_ENST00000371205.4_Silent_p.N46N	NM_001164178.1	NP_001157650.1	P49961	ENTP1_HUMAN	ectonucleoside triphosphate diphosphohydrolase 1	46				SS -> G (in Ref. 8; AA sequence).	cell adhesion	integral to plasma membrane	ATP binding			cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|skin(1)	16		Colorectal(252;0.0821)		Epithelial(162;1.31e-07)|all cancers(201;5.33e-06)		TGCCAGAAAACGTTAAGGTAA	0.468													64	70					0	0	1	0	0	T	97583115	C	T	97583115	2	4	424	1	0	0	0	0	0	0	0	1	5166	535	19	1		1	ENTPD1	10	97583115	Silent	SNP	C	TCGA-S9-A6UB-01A-21D-A33T-08	21705272	97583115	37951632	22	34434											
PHRF1	57661	broad.mit.edu	37	11	587410	587410	+	Silent	SNP	G	G	A			TCGA-S9-A6UB-01A-21D-A33T-08	TCGA-S9-A6UB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365dcb4e-892f-4f2d-ab03-c12d53456e44	f5d9c98d-0660-4659-b8b9-ccd4679de3f4	g.chr11:587410G>A	ENST00000264555.5	+	4	494	c.366G>A	c.(364-366)acG>acA	p.T122T	PHRF1_ENST00000416188.2_Silent_p.T122T|PHRF1_ENST00000533464.1_Silent_p.T118T|PHRF1_ENST00000413872.2_Silent_p.T121T	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	122							RNA polymerase binding|zinc ion binding			breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						CCGTGGGGACGCCGGAGAACT	0.557													60	108					0	0	1	0	0	A	587410	G	A	587410	2	1	424	1	0	0	0	0	0	0	0	1	11909	1074	38	1		1	PHRF1	11	587410	Silent	SNP	G	TCGA-S9-A6UB-01A-21D-A33T-08		587410	134419106	23	34435											
MUC5B	727897	broad.mit.edu	37	11	1247990	1247990	+	Silent	SNP	C	C	T			TCGA-S9-A6UB-01A-21D-A33T-08	TCGA-S9-A6UB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365dcb4e-892f-4f2d-ab03-c12d53456e44	f5d9c98d-0660-4659-b8b9-ccd4679de3f4	g.chr11:1247990C>T	ENST00000447027.1	+	4	403	c.345C>T	c.(343-345)aaC>aaT	p.N115N	MUC5B_ENST00000529681.1_Silent_p.N115N			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	115	VWFD 1.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		AGGACTTCAACGTCCAGCTAC	0.632													5	53					0	0	1	0	0	T	1247990	C	T	1247990	2	4	424	1	0	0	0	0	0	0	0	1	10027	535	19	1		1	MUC5B	11	1247990	Silent	SNP	C	TCGA-S9-A6UB-01A-21D-A33T-08	660580	1247990	133758526	24	34436											
GLYAT	10249	broad.mit.edu	37	11	58477535	58477535	+	Missense_Mutation	SNP	G	G	A	rs138125182		TCGA-S9-A6UB-01A-21D-A33T-08	TCGA-S9-A6UB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365dcb4e-892f-4f2d-ab03-c12d53456e44	f5d9c98d-0660-4659-b8b9-ccd4679de3f4	g.chr11:58477535G>A	ENST00000344743.3	-	6	736	c.595C>T	c.(595-597)Cgc>Tgc	p.R199C	GLYAT_ENST00000529732.1_Missense_Mutation_p.R199C	NM_201648.2	NP_964011.2	Q6IB77	GLYAT_HUMAN	glycine-N-acyltransferase	199					acyl-CoA metabolic process|response to toxin|xenobiotic metabolic process	mitochondrial matrix	glycine N-acyltransferase activity|glycine N-benzoyltransferase activity			NS(1)|autonomic_ganglia(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16		Breast(21;0.0044)|all_epithelial(135;0.0157)			Glycine(DB00145)	TGAATGCAGCGCTCAATGAAT	0.502													69	104					0	0	1	0	0	A	58477535	G	A	58477535	3	1	424	1	0	0	0	0	1	0	0	0	6521	1087	38	1	299	1	GLYAT	11	58477535	Missense_Mutation	SNP	G	TCGA-S9-A6UB-01A-21D-A33T-08	57229545	58477535	76528981	25	34437											
ANO1	55107	broad.mit.edu	37	11	69957819	69957819	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6UB-01A-21D-A33T-08	TCGA-S9-A6UB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365dcb4e-892f-4f2d-ab03-c12d53456e44	f5d9c98d-0660-4659-b8b9-ccd4679de3f4	g.chr11:69957819C>T	ENST00000355303.5	+	7	1111	c.806C>T	c.(805-807)aCg>aTg	p.T269M	ANO1_ENST00000398543.2_Missense_Mutation_p.T153M|ANO1_ENST00000316296.5_Missense_Mutation_p.T241M|ANO1_ENST00000531349.1_Missense_Mutation_p.T4M|ANO1_ENST00000530676.1_Missense_Mutation_p.T153M|ANO1_ENST00000538023.1_Missense_Mutation_p.T269M	NM_018043.5	NP_060513.5	Q5XXA6	ANO1_HUMAN	anoctamin 1, calcium activated chloride channel	269					multicellular organismal development	chloride channel complex|cytoplasm|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29						TAAGGCATCACGAGCCTGCTG	0.532													5	216					0	0	1	0	0	T	69957819	C	T	69957819	3	4	424	1	0	0	0	0	1	0	0	0	689	536	19	1	832	1	ANO1	11	69957819	Missense_Mutation	SNP	C	TCGA-S9-A6UB-01A-21D-A33T-08	11480284	69957819	65048697	26	34438											
FAT3	120114	broad.mit.edu	37	11	92087443	92087443	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6UB-01A-21D-A33T-08	TCGA-S9-A6UB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365dcb4e-892f-4f2d-ab03-c12d53456e44	f5d9c98d-0660-4659-b8b9-ccd4679de3f4	g.chr11:92087443G>A	ENST00000298047.6	+	1	2182	c.2165G>A	c.(2164-2166)gGa>gAa	p.G722E	FAT3_ENST00000409404.2_Missense_Mutation_p.G722E|FAT3_ENST00000541502.1_Missense_Mutation_p.G722E|FAT3_ENST00000525166.1_Missense_Mutation_p.G572E			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	722					homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				AATAGACAGGGACCATATTTT	0.398										TCGA Ovarian(4;0.039)			116	181					0	0	1	0	0	A	92087443	G	A	92087443	3	1	424	1	0	0	0	0	1	0	0	0	5724	1174	41	2	2167	2	FAT3	11	92087443	Missense_Mutation	SNP	G	TCGA-S9-A6UB-01A-21D-A33T-08	22129624	92087443	42919073	27	34439											
GPR83	10888	broad.mit.edu	37	11	94113633	94113633	+	Silent	SNP	C	C	T			TCGA-S9-A6UB-01A-21D-A33T-08	TCGA-S9-A6UB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365dcb4e-892f-4f2d-ab03-c12d53456e44	f5d9c98d-0660-4659-b8b9-ccd4679de3f4	g.chr11:94113633C>T	ENST00000243673.2	-	4	1125	c.954G>A	c.(952-954)aaG>aaA	p.K318K	GPR83_ENST00000539203.2_Silent_p.K276K	NM_016540.3	NP_057624.3	Q9NYM4	GPR83_HUMAN	G protein-coupled receptor 83	318						integral to membrane|plasma membrane	neuropeptide Y receptor activity			NS(1)|breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				TGCGGATGACCTTGCTGGACA	0.517													9	194					0	0	1	0	0	T	94113633	C	T	94113633	2	4	424	1	0	0	0	0	0	0	0	1	6753	680	24	2		2	GPR83	11	94113633	Silent	SNP	C	TCGA-S9-A6UB-01A-21D-A33T-08	2026190	94113633	40892883	28	34440											
DPAGT1	1798	broad.mit.edu	37	11	118968694	118968694	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6UB-01A-21D-A33T-08	TCGA-S9-A6UB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365dcb4e-892f-4f2d-ab03-c12d53456e44	f5d9c98d-0660-4659-b8b9-ccd4679de3f4	g.chr11:118968694G>A	ENST00000409993.2	-	8	2339	c.788C>T	c.(787-789)gCc>gTc	p.A263V	DPAGT1_ENST00000354202.4_Missense_Mutation_p.A263V|DPAGT1_ENST00000432443.2_Missense_Mutation_p.A156V			Q9H3H5	GPT_HUMAN	dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase)	263					dolichol biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|protein oligomerization	integral to endoplasmic reticulum membrane|microsome	phospho-N-acetylmuramoyl-pentapeptide-transferase activity|transferase activity, transferring glycosyl groups|UDP-N-acetylglucosamine-dolichyl-phosphate N-acetylglucosaminephosphotransferase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	17	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.55e-05)		GCCCACCACGGCAAAGGTCAT	0.532													5	168					0	0	1	0	0	A	118968694	G	A	118968694	3	1	424	1	0	0	0	0	1	0	0	0	4737	1203	42	2	454	2	DPAGT1	11	118968694	Missense_Mutation	SNP	G	TCGA-S9-A6UB-01A-21D-A33T-08	24855061	118968694	16037822	29	34441											
OR10G4	390264	broad.mit.edu	37	11	123887129	123887129	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A6UB-01A-21D-A33T-08	TCGA-S9-A6UB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365dcb4e-892f-4f2d-ab03-c12d53456e44	f5d9c98d-0660-4659-b8b9-ccd4679de3f4	g.chr11:123887129A>G	ENST00000320891.4	+	1	848	c.848A>G	c.(847-849)aAc>aGc	p.N283S		NM_001004462.1	NP_001004462.1	Q8NGN3	O10G4_HUMAN	olfactory receptor, family 10, subfamily G, member 4	283					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)|skin(4)|stomach(6)|upper_aerodigestive_tract(1)	48		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		CCCCTTCTCAACCCTGTTGTG	0.458													27	161					0	0	1	0	0	G	123887129	A	G	123887129	3	3	424	1	0	0	0	0	1	0	0	0	10949	43	2	3	850	3	OR10G4	11	123887129	Missense_Mutation	SNP	A	TCGA-S9-A6UB-01A-21D-A33T-08	4918435	123887129	11119387	30	34442											
ABCC9	10060	broad.mit.edu	37	12	21997752	21997752	+	Missense_Mutation	SNP	G	G	C			TCGA-S9-A6UB-01A-21D-A33T-08	TCGA-S9-A6UB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365dcb4e-892f-4f2d-ab03-c12d53456e44	f5d9c98d-0660-4659-b8b9-ccd4679de3f4	g.chr12:21997752G>C	ENST00000261200.4	-	25	3193	c.3194C>G	c.(3193-3195)gCc>gGc	p.A1065G	ABCC9_ENST00000261201.4_Missense_Mutation_p.A1065G|RP11-729I10.2_ENST00000539874.1_RNA|ABCC9_ENST00000345162.2_Missense_Mutation_p.A1029G	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	1065	ABC transmembrane type-1 2.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	AAGATTTTTGGCAGCTGTGAG	0.398													7	191					0	0	1	0	0	C	21997752	G	C	21997752	3	2	424	1	0	0	0	0	1	0	0	0	59	1203	42	5	1653	5	ABCC9	12	21997752	Missense_Mutation	SNP	G	TCGA-S9-A6UB-01A-21D-A33T-08		21997752	111854143	31	34443											
APPL2	55198	broad.mit.edu	37	12	105593272	105593272	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6UB-01A-21D-A33T-08	TCGA-S9-A6UB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365dcb4e-892f-4f2d-ab03-c12d53456e44	f5d9c98d-0660-4659-b8b9-ccd4679de3f4	g.chr12:105593272G>A	ENST00000258530.3	-	10	967	c.742C>T	c.(742-744)Cgg>Tgg	p.R248W	APPL2_ENST00000539978.2_Missense_Mutation_p.R205W|APPL2_ENST00000551662.1_Missense_Mutation_p.R254W|APPL2_ENST00000549573.1_5'UTR	NM_001251904.1|NM_018171.3	NP_001238833.1|NP_060641.2	Q8NEU8	DP13B_HUMAN	adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2	248	Required for RAB5A binding (By similarity).				cell cycle|cell proliferation|signal transduction	early endosome membrane|nucleus	protein binding			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						TGGGACACCCGCATCTTTTCC	0.502													4	142					0	0	1	0	0	A	105593272	G	A	105593272	3	1	424	1	0	0	0	0	1	0	0	0	815	1086	38	1	1300	1	APPL2	12	105593272	Missense_Mutation	SNP	G	TCGA-S9-A6UB-01A-21D-A33T-08	83595520	105593272	28258623	32	34444											
WDR66	144406	broad.mit.edu	37	12	122399950	122399950	+	Missense_Mutation	SNP	C	C	G			TCGA-S9-A6UB-01A-21D-A33T-08	TCGA-S9-A6UB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365dcb4e-892f-4f2d-ab03-c12d53456e44	f5d9c98d-0660-4659-b8b9-ccd4679de3f4	g.chr12:122399950C>G	ENST00000288912.4	+	15	3228	c.2374C>G	c.(2374-2376)Cag>Gag	p.Q792E	WDR66_ENST00000545752.1_3'UTR|WDR66_ENST00000397454.2_Missense_Mutation_p.Q792E	NM_144668.5	NP_653269.3	Q8TBY9	WDR66_HUMAN	WD repeat domain 66	792							calcium ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)		CCACACCGACCAGGGCTGCTA	0.512													119	158					0	0	1	0	0	G	122399950	C	G	122399950	3	3	424	1	0	0	0	0	1	0	0	0	17377	595	21	5	2428	5	WDR66	12	122399950	Missense_Mutation	SNP	C	TCGA-S9-A6UB-01A-21D-A33T-08	16806678	122399950	11451945	33	34445											
SPRY2	10253	broad.mit.edu	37	13	80911840	80911840	+	Translation_Start_Site	SNP	T	T	C			TCGA-S9-A6UB-01A-21D-A33T-08	TCGA-S9-A6UB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365dcb4e-892f-4f2d-ab03-c12d53456e44	f5d9c98d-0660-4659-b8b9-ccd4679de3f4	g.chr13:80911840T>C	ENST00000377102.1	-	2	978	c.1A>G	c.(1-3)Atg>Gtg	p.M1V	SPRY2_ENST00000540649.1_Start_Codon_SNP_p.M1V|SPRY2_ENST00000377104.3_Start_Codon_SNP_p.M1V			O43597	SPY2_HUMAN	sprouty homolog 2 (Drosophila)	1					epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of ERK1 and ERK2 cascade|positive regulation of gene expression|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein kinase B signaling cascade	cytosol|microtubule|ruffle membrane	protein serine/threonine kinase activator activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	12	Medulloblastoma(90;0.18)	Acute lymphoblastic leukemia(28;0.218)|Breast(118;0.244)		GBM - Glioblastoma multiforme(99;0.0318)		CTGGCCTCCATCAGGTCTTGG	0.587													22	34					0	0	1	0	0	C	80911840	T	C	80911840	1	2	424	1	0	0	0	0	0	0	0	0	15162	1435	50	3		3	SPRY2	13	80911840	Translation_Start_Site	SNP	T	TCGA-S9-A6UB-01A-21D-A33T-08		80911840	34258038	34	34446											
GPR18	2841	broad.mit.edu	37	13	99907196	99907196	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6UB-01A-21D-A33T-08	TCGA-S9-A6UB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365dcb4e-892f-4f2d-ab03-c12d53456e44	f5d9c98d-0660-4659-b8b9-ccd4679de3f4	g.chr13:99907196G>A	ENST00000340807.3	-	3	1487	c.931C>T	c.(931-933)Cgc>Tgc	p.R311C	UBAC2_ENST00000376440.2_Intron|GPR18_ENST00000397470.2_Missense_Mutation_p.R311C|GPR18_ENST00000397473.2_Missense_Mutation_p.R311C|UBAC2_ENST00000403766.3_Intron			Q14330	GPR18_HUMAN	G protein-coupled receptor 18	311						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(2)|large_intestine(2)|lung(6)	10	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Glycine(DB00145)	CTTTTTCTGCGCATGCTTCGA	0.378													4	194					0	0	1	0	0	A	99907196	G	A	99907196	3	1	424	1	0	0	0	0	1	0	0	0	6715	1087	38	1	68	1	GPR18	13	99907196	Missense_Mutation	SNP	G	TCGA-S9-A6UB-01A-21D-A33T-08	18995356	99907196	15262682	35	34447											
RGS6	9628	broad.mit.edu	37	14	72431532	72431532	+	Silent	SNP	A	A	G			TCGA-S9-A6UB-01A-21D-A33T-08	TCGA-S9-A6UB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365dcb4e-892f-4f2d-ab03-c12d53456e44	f5d9c98d-0660-4659-b8b9-ccd4679de3f4	g.chr14:72431532A>G	ENST00000553530.1	+	2	231	c.24A>G	c.(22-24)caA>caG	p.Q8Q	RGS6_ENST00000343854.6_Silent_p.Q8Q|RGS6_ENST00000553525.1_Silent_p.Q8Q|RGS6_ENST00000555571.1_Silent_p.Q8Q|RGS6_ENST00000556437.1_Silent_p.Q8Q|RGS6_ENST00000404301.2_Silent_p.Q8Q|RGS6_ENST00000406236.4_Silent_p.Q8Q|RGS6_ENST00000407322.4_Silent_p.Q8Q|RGS6_ENST00000402788.2_Silent_p.Q8Q|RGS6_ENST00000355512.6_Silent_p.Q8Q	NM_001204417.1|NM_001204418.1|NM_001204420.1|NM_001204421.1|NM_001204422.1|NM_004296.5	NP_001191346.1|NP_001191347.1|NP_001191349.1|NP_001191350.1|NP_001191351.1|NP_004287.3	P49758	RGS6_HUMAN	regulator of G-protein signaling 6	8					G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33				all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476)		CCGGGGATCAAAGAGCAGTGG	0.478													50	84					0	0	1	0	0	G	72431532	A	G	72431532	2	3	424	1	0	0	0	0	0	0	0	1	13359	11	1	3		3	RGS6	14	72431532	Silent	SNP	A	TCGA-S9-A6UB-01A-21D-A33T-08		72431532	34918008	36	34448											
MSLN	10232	broad.mit.edu	37	16	815715	815715	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6UB-01A-21D-A33T-08	TCGA-S9-A6UB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365dcb4e-892f-4f2d-ab03-c12d53456e44	f5d9c98d-0660-4659-b8b9-ccd4679de3f4	g.chr16:815715C>T	ENST00000566549.1	+	10	1237	c.820C>T	c.(820-822)Cgc>Tgc	p.R274C	MSLN_ENST00000382862.3_Missense_Mutation_p.R274C|MSLN_ENST00000563941.1_Missense_Mutation_p.R274C|MSLN_ENST00000545450.2_Missense_Mutation_p.R274C			Q13421	MSLN_HUMAN	mesothelin	274	Required for megakaryocyte-potentiating factor activity.				cell adhesion	anchored to membrane|extracellular region|Golgi apparatus|plasma membrane				breast(2)|kidney(2)|lung(11)|pancreas(1)|prostate(1)|skin(3)	20		Hepatocellular(780;0.00335)				GTGGCGGCAACGCTCCTCTCG	0.711													29	31					0	0	1	0	0	T	815715	C	T	815715	3	4	424	1	0	0	0	0	1	0	0	0	9929	536	19	1	854	1	MSLN	16	815715	Missense_Mutation	SNP	C	TCGA-S9-A6UB-01A-21D-A33T-08		815715	89539038	37	34449											
PPL	5493	broad.mit.edu	37	16	4934297	4934297	+	Silent	SNP	C	C	T			TCGA-S9-A6UB-01A-21D-A33T-08	TCGA-S9-A6UB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365dcb4e-892f-4f2d-ab03-c12d53456e44	f5d9c98d-0660-4659-b8b9-ccd4679de3f4	g.chr16:4934297C>T	ENST00000345988.2	-	22	4448	c.4359G>A	c.(4357-4359)ccG>ccA	p.P1453P	PPL_ENST00000590782.2_Silent_p.P1451P	NM_002705.4	NP_002696	O60437	PEPL_HUMAN	periplakin	1453					keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						GCGCCTGCTGCGGGTCCTGCT	0.657													4	251					0	0	1	0	0	T	4934297	C	T	4934297	2	4	424	1	0	0	0	0	0	0	0	1	12383	755	27	1		1	PPL	16	4934297	Silent	SNP	C	TCGA-S9-A6UB-01A-21D-A33T-08	4118582	4934297	85420456	38	34450											
GSG2	83903	broad.mit.edu	37	17	3627984	3627984	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6UB-01A-21D-A33T-08	TCGA-S9-A6UB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365dcb4e-892f-4f2d-ab03-c12d53456e44	f5d9c98d-0660-4659-b8b9-ccd4679de3f4	g.chr17:3627984G>A	ENST00000325418.4	+	1	774	c.755G>A	c.(754-756)gGa>gAa	p.G252E	ITGAE_ENST00000263087.4_Intron|ITGAE_ENST00000571185.1_5'UTR	NM_031965.2	NP_114171.2	Q8TF76	HASP_HUMAN	germ cell associated 2 (haspin)	252					cell cycle|chromatin modification|intracellular protein kinase cascade	nucleus	ATP binding|protein serine/threonine kinase activity										ATGAACTCAGGAACCCCTGAG	0.552													63	76					0	0	1	0	0	A	3627984	G	A	3627984	3	1	424	1	0	0	0	0	1	0	0	0	6863	1174	41	2	757	2	GSG2	17	3627984	Missense_Mutation	SNP	G	TCGA-S9-A6UB-01A-21D-A33T-08		3627984	77567226	39	34451											
AKAP1	8165	broad.mit.edu	37	17	55183906	55183906	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6UB-01A-21D-A33T-08	TCGA-S9-A6UB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365dcb4e-892f-4f2d-ab03-c12d53456e44	f5d9c98d-0660-4659-b8b9-ccd4679de3f4	g.chr17:55183906G>A	ENST00000337714.3	+	2	1314	c.1081G>A	c.(1081-1083)Gaa>Aaa	p.E361K	AKAP1_ENST00000314126.3_Missense_Mutation_p.E361K|AKAP1_ENST00000539273.1_Missense_Mutation_p.E361K|AKAP1_ENST00000571629.1_Missense_Mutation_p.E361K|AKAP1_ENST00000572557.1_Missense_Mutation_p.E361K	NM_003488.3	NP_003479.1	Q92667	AKAP1_HUMAN	A kinase (PRKA) anchor protein 1	361					blood coagulation	cytosol|integral to membrane|mitochondrial outer membrane	protein binding|RNA binding			endometrium(2)|liver(1)|lung(7)|ovary(2)|pancreas(1)|skin(1)	14	Breast(9;5.46e-08)					AGAAGCAACCGAACAGGTGCT	0.537													4	143					0	0	1	0	0	A	55183906	G	A	55183906	3	1	424	1	0	0	0	0	1	0	0	0	442	1059	37	1	1083	1	AKAP1	17	55183906	Missense_Mutation	SNP	G	TCGA-S9-A6UB-01A-21D-A33T-08	51555922	55183906	26011304	40	34452											
SLC16A3	9123	broad.mit.edu	37	17	80195354	80195354	+	Silent	SNP	G	G	A			TCGA-S9-A6UB-01A-21D-A33T-08	TCGA-S9-A6UB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365dcb4e-892f-4f2d-ab03-c12d53456e44	f5d9c98d-0660-4659-b8b9-ccd4679de3f4	g.chr17:80195354G>A	ENST00000581287.1	+	3	3030	c.708G>A	c.(706-708)tcG>tcA	p.S236S	SLC16A3_ENST00000582743.1_Silent_p.S236S|SLC16A3_ENST00000392339.1_Silent_p.S236S|SLC16A3_ENST00000392341.1_Silent_p.S236S	NM_001206951.1|NM_001206952.1	NP_001193880.1|NP_001193881.1	O15427	MOT4_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 3	236					blood coagulation|leukocyte migration|organic anion transport|pyruvate metabolic process	actin cytoskeleton|integral to plasma membrane|membrane fraction|nuclear membrane	secondary active monocarboxylate transmembrane transporter activity|symporter activity			endometrium(2)|kidney(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9	Breast(20;0.00285)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.227)		OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0149)		Pyruvic acid(DB00119)	TGGCCGCCTCGGTCATGGTGC	0.716													16	23					0	0	1	0	0	A	80195354	G	A	80195354	2	1	424	1	0	0	0	0	0	0	0	1	14464	1103	39	1		1	SLC16A3	17	80195354	Silent	SNP	G	TCGA-S9-A6UB-01A-21D-A33T-08	25011448	80195354	999856	41	34453											
EMR1	2015	broad.mit.edu	37	19	6928249	6928249	+	Silent	SNP	G	G	A			TCGA-S9-A6UB-01A-21D-A33T-08	TCGA-S9-A6UB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365dcb4e-892f-4f2d-ab03-c12d53456e44	f5d9c98d-0660-4659-b8b9-ccd4679de3f4	g.chr19:6928249G>A	ENST00000381404.4	+	16	2190	c.2160G>A	c.(2158-2160)gcG>gcA	p.A720A	EMR1_ENST00000250572.8_Intron|EMR1_ENST00000381407.5_Intron|EMR1_ENST00000450315.3_Intron|EMR1_ENST00000312053.4_Intron	NM_001256252.1	NP_001243181.1	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 1	763					cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					ACAGCCTGGCGAAGTGTGTTC	0.498													60	88					0	0	1	0	0	A	6928249	G	A	6928249	2	1	424	1	0	0	0	0	0	0	0	1	5132	1073	37	1		1	EMR1	19	6928249	Silent	SNP	G	TCGA-S9-A6UB-01A-21D-A33T-08		6928249	52200734	42	34454											
ASF1B	55723	broad.mit.edu	37	19	14231314	14231314	+	Missense_Mutation	SNP	C	C	A			TCGA-S9-A6UB-01A-21D-A33T-08	TCGA-S9-A6UB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365dcb4e-892f-4f2d-ab03-c12d53456e44	f5d9c98d-0660-4659-b8b9-ccd4679de3f4	g.chr19:14231314C>A	ENST00000263382.3	-	4	1065	c.566G>T	c.(565-567)tGc>tTc	p.C189F	ASF1B_ENST00000592798.1_Missense_Mutation_p.C130F	NM_018154.2	NP_060624.1	Q9NVP2	ASF1B_HUMAN	anti-silencing function 1B histone chaperone	189					cell differentiation|chromatin modification|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus				endometrium(2)|large_intestine(2)|lung(2)|ovary(1)	7						GCCAGGGATGCAGCCAGGGAG	0.642													11	52					1.77063e-15	1.80116e-15	1	1	0	A	14231314	C	A	14231314	3	1	424	1	0	0	0	0	1	0	0	0	1037	710	25	5	46	5	ASF1B	19	14231314	Missense_Mutation	SNP	C	TCGA-S9-A6UB-01A-21D-A33T-08	7303065	14231314	44897669	43	34455											
CIC	23152	broad.mit.edu	37	19	42792003	42792003	+	Nonsense_Mutation	SNP	G	G	A			TCGA-S9-A6UB-01A-21D-A33T-08	TCGA-S9-A6UB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365dcb4e-892f-4f2d-ab03-c12d53456e44	f5d9c98d-0660-4659-b8b9-ccd4679de3f4	g.chr19:42792003G>A	ENST00000572681.2	+	7	3602	c.3534G>A	c.(3532-3534)tgG>tgA	p.W1178*	CIC_ENST00000160740.3_Nonsense_Mutation_p.W269*|CIC_ENST00000575354.2_Nonsense_Mutation_p.W269*			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	269	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				ATTGGAAGTGGTGCAACAAGG	0.632			"Mis, F, S"		oligodendroglioma								15	6					0	0	1	0	0	A	42792003	G	A	42792003	4	1	424	1	0	0	0	0	0	1	0	0	3446	1270	44	2	829	2	CIC	19	42792003	Nonsense_Mutation	SNP	G	TCGA-S9-A6UB-01A-21D-A33T-08	28560689	42792003	16336980	44	34456											
DHX34	9704	broad.mit.edu	37	19	47883203	47883203	+	Silent	SNP	C	C	T			TCGA-S9-A6UB-01A-21D-A33T-08	TCGA-S9-A6UB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365dcb4e-892f-4f2d-ab03-c12d53456e44	f5d9c98d-0660-4659-b8b9-ccd4679de3f4	g.chr19:47883203C>T	ENST00000328771.4	+	14	3292	c.2943C>T	c.(2941-2943)gcC>gcT	p.A981A		NM_014681.5	NP_055496.2	Q14147	DHX34_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 34	981						intracellular	ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)		AGGAGGTGGCCACCCTGAGCA	0.662													4	38					0	0	1	0	0	T	47883203	C	T	47883203	2	4	424	1	0	0	0	0	0	0	0	1	4535	581	21	2		2	DHX34	19	47883203	Silent	SNP	C	TCGA-S9-A6UB-01A-21D-A33T-08	5091200	47883203	11245780	45	34457											
U2AF2	11338	broad.mit.edu	37	19	56181020	56181020	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6UB-01A-21D-A33T-08	TCGA-S9-A6UB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365dcb4e-892f-4f2d-ab03-c12d53456e44	f5d9c98d-0660-4659-b8b9-ccd4679de3f4	g.chr19:56181020C>T	ENST00000450554.2	+	11	2202	c.1243C>T	c.(1243-1245)Cgg>Tgg	p.R415W	CTD-2537I9.12_ENST00000585940.1_RNA|U2AF2_ENST00000590551.1_Missense_Mutation_p.R251W|U2AF2_ENST00000308924.4_Missense_Mutation_p.R419W|CTD-2537I9.12_ENST00000589456.1_RNA	NM_001012478.1|NM_007279.2	NP_001012496.1|NP_009210.1	P26368	U2AF2_HUMAN	U2 small nuclear RNA auxiliary factor 2	419	RRM 3.				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	nucleoplasm|spliceosomal complex	enzyme binding|nucleotide binding|RNA binding			biliary_tract(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(2)	21		Colorectal(82;0.00244)|Ovarian(87;0.133)	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)		CGAGATCCCCCGGCCTGTGGA	0.657													27	17					0	0	1	0	0	T	56181020	C	T	56181020	3	4	424	1	0	0	0	0	1	0	0	0	16884	643	23	1	1297	1	U2AF2	19	56181020	Missense_Mutation	SNP	C	TCGA-S9-A6UB-01A-21D-A33T-08	8297817	56181020	2947963	46	34458											
CSNK2A1	1457	broad.mit.edu	37	20	480554	480554	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6UB-01A-21D-A33T-08	TCGA-S9-A6UB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365dcb4e-892f-4f2d-ab03-c12d53456e44	f5d9c98d-0660-4659-b8b9-ccd4679de3f4	g.chr20:480554G>A	ENST00000217244.3	-	5	613	c.238C>T	c.(238-240)Cgt>Tgt	p.R80C	CSNK2A1_ENST00000400227.3_Missense_Mutation_p.R80C|CSNK2A1_ENST00000349736.5_Missense_Mutation_p.R80C|CSNK2A1_ENST00000400217.2_5'UTR	NM_177559.2	NP_808227.1	P68400	CSK21_HUMAN	casein kinase 2, alpha 1 polypeptide	80	Protein kinase.				axon guidance|Wnt receptor signaling pathway	cytosol|NuRD complex|plasma membrane|Sin3 complex	ATP binding|protein N-terminus binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1)	17		Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.0969)			TTTATTTCACGCTTAATTTTC	0.343													5	281					0	0	1	0	0	A	480554	G	A	480554	3	1	424	1	0	0	0	0	1	0	0	0	3982	1087	38	1	977	1	CSNK2A1	20	480554	Missense_Mutation	SNP	G	TCGA-S9-A6UB-01A-21D-A33T-08		480554	62544966	47	34459											
SSX5	6758	broad.mit.edu	37	X	48053616	48053616	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6UB-01A-21D-A33T-08	TCGA-S9-A6UB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365dcb4e-892f-4f2d-ab03-c12d53456e44	f5d9c98d-0660-4659-b8b9-ccd4679de3f4	g.chrX:48053616C>T	ENST00000311798.1	-	5	404	c.352G>A	c.(352-354)Gca>Aca	p.A118T	SSX5_ENST00000376923.1_Missense_Mutation_p.A77T|SSX5_ENST00000347757.1_Missense_Mutation_p.A77T	NM_021015.3	NP_066295.3	O60225	SSX5_HUMAN	synovial sarcoma, X breakpoint 5	77					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding			endometrium(3)|kidney(1)|large_intestine(6)|lung(7)|skin(1)	18						TGGAAGTCTGCGACCCGTTTA	0.488													137	23					0	0	1	0	0	T	48053616	C	T	48053616	3	4	424	1	0	0	0	0	1	0	0	0	15264	768	27	1	353	1	SSX5	23	48053616	Missense_Mutation	SNP	C	TCGA-S9-A6UB-01A-21D-A33T-08		48053616	107216944	48	34460											
PCSK9	255738	broad.mit.edu	37	1	55523717	55523717	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6WD-01A-12D-A33T-08	TCGA-S9-A6WD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d203973d-84e1-49c8-ab52-9f8b466dd5ed	7c75a779-b0bd-4575-ab5d-a9d3c801f219	g.chr1:55523717G>A	ENST00000302118.5	+	8	1479	c.1189G>A	c.(1189-1191)Gcc>Acc	p.A397T	PCSK9_ENST00000490692.1_3'UTR|PCSK9_ENST00000543384.1_Missense_Mutation_p.A197T	NM_174936.3	NP_777596.2	Q8NBP7	PCSK9_HUMAN	proprotein convertase subtilisin/kexin type 9	397	Peptidase S8.				cellular response to insulin stimulus|cellular response to starvation|cholesterol homeostasis|cholesterol metabolic process|kidney development|liver development|low-density lipoprotein particle receptor catabolic process|lysosomal transport|negative regulation of catalytic activity|negative regulation of low-density lipoprotein particle clearance|negative regulation of receptor recycling|neuron differentiation|positive regulation of neuron apoptosis|positive regulation of receptor internalization|protein autoprocessing|regulation of receptor activity	extracellular space|late endosome|lysosome|perinuclear region of cytoplasm	apolipoprotein receptor binding|identical protein binding|low-density lipoprotein particle receptor binding|serine-type endopeptidase activity|very-low-density lipoprotein particle receptor binding			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(1)|liver(2)|lung(4)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	32						AGGCATTGCAGCCATGATGCT	0.602													4	104					0	0	1	0	0	A	55523717	G	A	55523717	3	1	425	1	0	0	0	0	1	0	0	0	11653	971	34	2	1219	2	PCSK9	1	55523717	Missense_Mutation	SNP	G	TCGA-S9-A6WD-01A-12D-A33T-08		55523717	193726904	1	34461											
KCNK2	3776	broad.mit.edu	37	1	215408391	215408391	+	Missense_Mutation	SNP	T	T	G			TCGA-S9-A6WD-01A-12D-A33T-08	TCGA-S9-A6WD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d203973d-84e1-49c8-ab52-9f8b466dd5ed	7c75a779-b0bd-4575-ab5d-a9d3c801f219	g.chr1:215408391T>G	ENST00000444842.2	+	7	1334	c.1184T>G	c.(1183-1185)gTc>gGc	p.V395G	KCNK2_ENST00000391895.2_Missense_Mutation_p.V391G|KCNK2_ENST00000391894.2_Missense_Mutation_p.V380G	NM_001017425.2|NM_014217.3	NP_001017425.2|NP_055032.1	O95069	KCNK2_HUMAN	potassium channel, subfamily K, member 2	395	Essential for chloroform and halothane sensitivity (By similarity).|Required for basal channel activity (By similarity).						outward rectifier potassium channel activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068)	Dofetilide(DB00204)	GAGAGGGATGTCTTGCCTCCC	0.512													27	155					0	0	1	0	0	G	215408391	T	G	215408391	3	3	425	1	0	0	0	0	1	0	0	0	8110	1667	58	5	1253	5	KCNK2	1	215408391	Missense_Mutation	SNP	T	TCGA-S9-A6WD-01A-12D-A33T-08	159884674	215408391	33842230	2	34462			1	44		2	2	30	N	T_A	4.964869e-05
KCNK2	3776	broad.mit.edu	37	1	215408420	215408420	+	Missense_Mutation	SNP	A	A	T			TCGA-S9-A6WD-01A-12D-A33T-08	TCGA-S9-A6WD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d203973d-84e1-49c8-ab52-9f8b466dd5ed	7c75a779-b0bd-4575-ab5d-a9d3c801f219	g.chr1:215408420A>T	ENST00000444842.2	+	7	1363	c.1213A>T	c.(1213-1215)Atc>Ttc	p.I405F	KCNK2_ENST00000391895.2_Missense_Mutation_p.I401F|KCNK2_ENST00000391894.2_Missense_Mutation_p.I390F	NM_001017425.2|NM_014217.3	NP_001017425.2|NP_055032.1	O95069	KCNK2_HUMAN	potassium channel, subfamily K, member 2	405	Essential for chloroform and halothane sensitivity (By similarity).|Required for basal channel activity (By similarity).						outward rectifier potassium channel activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068)	Dofetilide(DB00204)	GACTGAGAGTATCTATCTGAA	0.473													32	184					0	0	1	0	0	T	215408420	A	T	215408420	3	4	425	1	0	0	0	0	1	0	0	0	8110	449	16	4	1282	4	KCNK2	1	215408420	Missense_Mutation	SNP	A	TCGA-S9-A6WD-01A-12D-A33T-08	29	215408420	33842201	3	34463			1	44		2	2	30	N	T_A	4.964869e-05
TGOLN2	10618	broad.mit.edu	37	2	85554633	85554633	+	Silent	SNP	C	C	T			TCGA-S9-A6WD-01A-12D-A33T-08	TCGA-S9-A6WD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d203973d-84e1-49c8-ab52-9f8b466dd5ed	7c75a779-b0bd-4575-ab5d-a9d3c801f219	g.chr2:85554633C>T	ENST00000377386.3	-	2	684	c.222G>A	c.(220-222)gcG>gcA	p.A74A	TGOLN2_ENST00000409232.3_Silent_p.A74A|TGOLN2_ENST00000409015.1_Silent_p.A74A|TGOLN2_ENST00000444342.2_Silent_p.A74A|TGOLN2_ENST00000282120.2_Intron|TGOLN2_ENST00000398263.2_Silent_p.A74A			O43493	TGON2_HUMAN	trans-golgi network protein 2	74	14 X 14 AA tandem repeats.			A -> P (in Ref. 4; BAD96783).		integral to membrane|nucleus|plasma membrane|trans-Golgi network|transport vesicle	protein binding										CTGGGGTCTGCGCCTCCGCAC	0.607													7	715					0	0	1	0	0	T	85554633	C	T	85554633	2	4	425	1	0	0	0	0	0	0	0	1	15896	755	27	1		1	TGOLN2	2	85554633	Silent	SNP	C	TCGA-S9-A6WD-01A-12D-A33T-08		85554633	157644740	4	34464											
GLI2	2736	broad.mit.edu	37	2	121685032	121685032	+	Translation_Start_Site	SNP	G	G	A			TCGA-S9-A6WD-01A-12D-A33T-08	TCGA-S9-A6WD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d203973d-84e1-49c8-ab52-9f8b466dd5ed	7c75a779-b0bd-4575-ab5d-a9d3c801f219	g.chr2:121685032G>A	ENST00000314490.11	+	0	274				GLI2_ENST00000435313.2_3'UTR|GLI2_ENST00000361492.4_Missense_Mutation_p.G82S|GLI2_ENST00000452319.1_Missense_Mutation_p.G82S			P10070	GLI2_HUMAN	GLI family zinc finger 2						axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				TTCTGTCCACGGTGTGCACGG	0.622													35	212					0	0	1	0	0	A	121685032	G	A	121685032	1	1	425	1	0	0	0	0	0	0	0	0	6480	1116	39	1		1	GLI2	2	121685032	Translation_Start_Site	SNP	G	TCGA-S9-A6WD-01A-12D-A33T-08	36130399	121685032	121514341	5	34465											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-S9-A6WD-01A-12D-A33T-08	TCGA-S9-A6WD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d203973d-84e1-49c8-ab52-9f8b466dd5ed	7c75a779-b0bd-4575-ab5d-a9d3c801f219	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								75	99					0	0	1	0	0	T	209113112	C	T	209113112	3	4	425	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-S9-A6WD-01A-12D-A33T-08	87428080	209113112	34086261	6	34466											
IRS1	3667	broad.mit.edu	37	2	227662549	227662549	+	Silent	SNP	T	T	G			TCGA-S9-A6WD-01A-12D-A33T-08	TCGA-S9-A6WD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d203973d-84e1-49c8-ab52-9f8b466dd5ed	7c75a779-b0bd-4575-ab5d-a9d3c801f219	g.chr2:227662549T>G	ENST00000305123.5	-	1	1926	c.906A>C	c.(904-906)cgA>cgC	p.R302R		NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1		Ser-rich.				fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		CAGTGCGTGATCGGCGGGTCA	0.682											OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	29	135					0	0	1	0	0	G	227662549	T	G	227662549	2	3	425	1	0	0	0	0	0	0	0	1	7884	1422	50	4		4	IRS1	2	227662549	Silent	SNP	T	TCGA-S9-A6WD-01A-12D-A33T-08	18549437	227662549	15536824	7	34467											
AGAP1	116987	broad.mit.edu	37	2	236708060	236708060	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6WD-01A-12D-A33T-08	TCGA-S9-A6WD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d203973d-84e1-49c8-ab52-9f8b466dd5ed	7c75a779-b0bd-4575-ab5d-a9d3c801f219	g.chr2:236708060C>T	ENST00000304032.8	+	8	1431	c.851C>T	c.(850-852)tCg>tTg	p.S284L	AGAP1_ENST00000428334.2_Missense_Mutation_p.S123L|AGAP1_ENST00000409457.1_Missense_Mutation_p.S284L|AGAP1_ENST00000409538.1_Missense_Mutation_p.S549L|AGAP1_ENST00000336665.5_Missense_Mutation_p.S284L	NM_001037131.2	NP_001032208.1	Q9UPQ3	AGAP1_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 1						protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm	ARF GTPase activator activity|GTP binding|zinc ion binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						TCCGTTCCATCGACTCCCAGC	0.517													4	162					0	0	1	0	0	T	236708060	C	T	236708060	3	4	425	1	0	0	0	0	1	0	0	0	365	893	31	1	881	1	AGAP1	2	236708060	Missense_Mutation	SNP	C	TCGA-S9-A6WD-01A-12D-A33T-08	9045511	236708060	6491313	8	34468											
OSBPL10	114884	broad.mit.edu	37	3	31774883	31774883	+	Missense_Mutation	SNP	C	C	T	rs143778028		TCGA-S9-A6WD-01A-12D-A33T-08	TCGA-S9-A6WD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d203973d-84e1-49c8-ab52-9f8b466dd5ed	7c75a779-b0bd-4575-ab5d-a9d3c801f219	g.chr3:31774883C>T	ENST00000396556.2	-	6	1083	c.961G>A	c.(961-963)Ggg>Agg	p.G321R	OSBPL10_ENST00000438237.2_Missense_Mutation_p.G257R|OSBPL10_ENST00000467647.1_5'UTR	NM_017784.4	NP_060254.2	Q9BXB5	OSB10_HUMAN	oxysterol binding protein-like 10	321					lipid transport		lipid binding	p.G321W(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	34				STAD - Stomach adenocarcinoma(1;0.00406)		GACTTGGACCCGTGCCATCCC	0.413													6	365					0	0	1	0	0	T	31774883	C	T	31774883	3	4	425	1	0	0	0	0	1	0	0	0	11322	652	23	1	1361	1	OSBPL10	3	31774883	Missense_Mutation	SNP	C	TCGA-S9-A6WD-01A-12D-A33T-08		31774883	166247547	9	34469											
TRANK1	9881	broad.mit.edu	37	3	36896948	36896948	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6WD-01A-12D-A33T-08	TCGA-S9-A6WD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d203973d-84e1-49c8-ab52-9f8b466dd5ed	7c75a779-b0bd-4575-ab5d-a9d3c801f219	g.chr3:36896948G>A	ENST00000429976.2	-	12	4380	c.4133C>T	c.(4132-4134)tCg>tTg	p.S1378L	TRANK1_ENST00000428977.2_Missense_Mutation_p.S828L|TRANK1_ENST00000301807.6_Missense_Mutation_p.S828L	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	1378					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						CCTGAGCTTCGACAGCCTCCG	0.488													115	196					0	0	1	0	0	A	36896948	G	A	36896948	3	1	425	1	0	0	0	0	1	0	0	0	16515	1059	37	1	4692	1	TRANK1	3	36896948	Missense_Mutation	SNP	G	TCGA-S9-A6WD-01A-12D-A33T-08	5122065	36896948	161125482	10	34470											
TRANK1	9881	broad.mit.edu	37	3	36899337	36899337	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A6WD-01A-12D-A33T-08	TCGA-S9-A6WD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d203973d-84e1-49c8-ab52-9f8b466dd5ed	7c75a779-b0bd-4575-ab5d-a9d3c801f219	g.chr3:36899337T>C	ENST00000429976.2	-	12	1991	c.1744A>G	c.(1744-1746)Aaa>Gaa	p.K582E	TRANK1_ENST00000428977.2_Missense_Mutation_p.K32E|TRANK1_ENST00000301807.6_Missense_Mutation_p.K32E	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	582					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						TTGCCCTCTTTGTTCTTCAGA	0.512													5	273					0	0	1	0	0	C	36899337	T	C	36899337	3	2	425	1	0	0	0	0	1	0	0	0	16515	1821	63	3	7081	3	TRANK1	3	36899337	Missense_Mutation	SNP	T	TCGA-S9-A6WD-01A-12D-A33T-08	2389	36899337	161123093	11	34471											
MCCC1	56922	broad.mit.edu	37	3	182804549	182804549	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6WD-01A-12D-A33T-08	TCGA-S9-A6WD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d203973d-84e1-49c8-ab52-9f8b466dd5ed	7c75a779-b0bd-4575-ab5d-a9d3c801f219	g.chr3:182804549C>T	ENST00000265594.4	-	4	447	c.301G>A	c.(301-303)Gct>Act	p.A101T	MCCC1_ENST00000492597.1_5'UTR|MCCC1_ENST00000539926.1_Intron	NM_020166.3	NP_064551.3	Q96RQ3	MCCA_HUMAN	methylcrotonoyl-CoA carboxylase 1 (alpha)	101	Biotin carboxylation.				biotin metabolic process|leucine catabolic process	mitochondrial inner membrane|mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|methylcrotonoyl-CoA carboxylase activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(17)|ovary(1)|pancreas(2)|prostate(1)|skin(2)	40	all_cancers(143;1.84e-14)|Ovarian(172;0.0355)		all cancers(12;1.8e-44)|Epithelial(37;3.23e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;5.07e-21)		Biotin(DB00121)	TGGGAGGGAGCGGGGCCGATG	0.453													26	33					0	0	1	0	0	T	182804549	C	T	182804549	3	4	425	1	0	0	0	0	1	0	0	0	9424	768	27	1	1940	1	MCCC1	3	182804549	Missense_Mutation	SNP	C	TCGA-S9-A6WD-01A-12D-A33T-08	145905212	182804549	15217881	12	34472											
EPHA5	2044	broad.mit.edu	37	4	66213865	66213865	+	Silent	SNP	A	A	G			TCGA-S9-A6WD-01A-12D-A33T-08	TCGA-S9-A6WD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d203973d-84e1-49c8-ab52-9f8b466dd5ed	7c75a779-b0bd-4575-ab5d-a9d3c801f219	g.chr4:66213865A>G	ENST00000273854.3	-	15	3165	c.2565T>C	c.(2563-2565)ttT>ttC	p.F855F	EPHA5_ENST00000432638.2_Silent_p.F692F|EPHA5_ENST00000354839.4_Silent_p.F833F|EPHA5_ENST00000511294.1_Silent_p.F856F	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	855	Protein kinase.				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						TGGCAGAAGTAAACTTTCGGA	0.388										TSP Lung(17;0.13)			4	204					0	0	1	0	0	G	66213865	A	G	66213865	2	3	425	1	0	0	0	0	0	0	0	1	5198	359	13	3		3	EPHA5	4	66213865	Silent	SNP	A	TCGA-S9-A6WD-01A-12D-A33T-08		66213865	124940411	13	34473											
DDX60	55601	broad.mit.edu	37	4	169183842	169183842	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6WD-01A-12D-A33T-08	TCGA-S9-A6WD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d203973d-84e1-49c8-ab52-9f8b466dd5ed	7c75a779-b0bd-4575-ab5d-a9d3c801f219	g.chr4:169183842G>A	ENST00000393743.3	-	23	3427	c.3136C>T	c.(3136-3138)Cgg>Tgg	p.R1046W	DDX60_ENST00000505393.1_5'UTR	NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	1046							ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		ACCTGGGCCCGAGGCCAACTT	0.378													74	140					0	0	1	0	0	A	169183842	G	A	169183842	3	1	425	1	0	0	0	0	1	0	0	0	4401	1057	37	1	2066	1	DDX60	4	169183842	Missense_Mutation	SNP	G	TCGA-S9-A6WD-01A-12D-A33T-08	102969977	169183842	21970434	14	34474											
TRIO	7204	broad.mit.edu	37	5	14485191	14485191	+	Missense_Mutation	SNP	G	G	C			TCGA-S9-A6WD-01A-12D-A33T-08	TCGA-S9-A6WD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d203973d-84e1-49c8-ab52-9f8b466dd5ed	7c75a779-b0bd-4575-ab5d-a9d3c801f219	g.chr5:14485191G>C	ENST00000344204.4	+	47	6695	c.6671G>C	c.(6670-6672)tGc>tCc	p.C2224S	TRIO_ENST00000537187.1_Missense_Mutation_p.C2224S	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	2224	PH 2.				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					AGTTGCCTTTGCCTGGAGGAA	0.408													5	228					0	0	1	0	0	C	14485191	G	C	14485191	3	2	425	1	0	0	0	0	1	0	0	0	16613	1319	46	5	6857	5	TRIO	5	14485191	Missense_Mutation	SNP	G	TCGA-S9-A6WD-01A-12D-A33T-08		14485191	166430069	15	34475											
C7	730	broad.mit.edu	37	5	40959677	40959677	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6WD-01A-12D-A33T-08	TCGA-S9-A6WD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d203973d-84e1-49c8-ab52-9f8b466dd5ed	7c75a779-b0bd-4575-ab5d-a9d3c801f219	g.chr5:40959677C>T	ENST00000313164.9	+	12	1975	c.1616C>T	c.(1615-1617)aCg>aTg	p.T539M		NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	539	TSP type-1 2.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex		p.T539M(1)					Ovarian(839;0.0112)				GTTGGAGAAACGACAGAAAGC	0.542													11	29					0	0	1	0	0	T	40959677	C	T	40959677	3	4	425	1	0	0	0	0	1	0	0	0	2391	536	19	1	1662	1	C7	5	40959677	Missense_Mutation	SNP	C	TCGA-S9-A6WD-01A-12D-A33T-08	26474486	40959677	139955583	16	34476											
ST8SIA4	7903	broad.mit.edu	37	5	100222198	100222198	+	Silent	SNP	G	G	A			TCGA-S9-A6WD-01A-12D-A33T-08	TCGA-S9-A6WD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d203973d-84e1-49c8-ab52-9f8b466dd5ed	7c75a779-b0bd-4575-ab5d-a9d3c801f219	g.chr5:100222198G>A	ENST00000231461.5	-	3	662	c.352C>T	c.(352-354)Cta>Tta	p.L118L	ST8SIA4_ENST00000507360.2_5'UTR|ST8SIA4_ENST00000451528.2_Silent_p.L118L	NM_005668.4	NP_005659.1	Q92187	SIA8D_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4	118					axon guidance|N-glycan processing	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)	25		all_cancers(142;1.5e-07)|all_epithelial(76;1.43e-10)|Prostate(80;0.000644)|Lung NSC(167;0.0059)|all_lung(232;0.00914)|Ovarian(225;0.024)|Colorectal(57;0.09)|Breast(839;0.203)		COAD - Colon adenocarcinoma(37;0.00402)		GAAATGTTTAGTGTCCGGCGC	0.438													61	206					0	0	1	0	0	A	100222198	G	A	100222198	2	1	425	1	0	0	0	0	0	0	0	1	15290	1020	36	2		2	ST8SIA4	5	100222198	Silent	SNP	G	TCGA-S9-A6WD-01A-12D-A33T-08	59262521	100222198	80693062	17	34477											
NR3C1	2908	broad.mit.edu	37	5	142780104	142780104	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6WD-01A-12D-A33T-08	TCGA-S9-A6WD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d203973d-84e1-49c8-ab52-9f8b466dd5ed	7c75a779-b0bd-4575-ab5d-a9d3c801f219	g.chr5:142780104C>T	ENST00000343796.2	-	2	1294	c.301G>A	c.(301-303)Gac>Aac	p.D101N	NR3C1_ENST00000503201.1_Missense_Mutation_p.D101N|NR3C1_ENST00000415690.2_Missense_Mutation_p.D101N|NR3C1_ENST00000416954.2_Intron|NR3C1_ENST00000504572.1_Missense_Mutation_p.D101N|NR3C1_ENST00000424646.2_Missense_Mutation_p.D101N|NR3C1_ENST00000231509.3_Missense_Mutation_p.D101N|NR3C1_ENST00000394464.2_Missense_Mutation_p.D101N|NR3C1_ENST00000394466.2_Missense_Mutation_p.D101N	NM_001018074.1|NM_001018075.1|NM_001018077.1	NP_001018084.1|NP_001018085.1|NP_001018087.1	P04150	GCR_HUMAN	nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)	101	Modulating.				chromatin modification|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus|transcription from RNA polymerase II promoter	mitochondrial matrix|nucleoplasm	glucocorticoid receptor activity|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	35		Acute lymphoblastic leukemia(2;3.2e-05)|all_hematologic(2;0.000361)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)		Amcinonide(DB00288)|Betamethasone(DB00443)|Budesonide(DB01222)|Dexamethasone(DB01234)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluticasone Propionate(DB00588)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Loteprednol Etabonate(DB00873)|Methylprednisolone(DB00959)|Mifepristone(DB00834)|Mometasone(DB00764)|Prednisone(DB00635)	AATCCCAGGTCATTTCCCATC	0.483													17	288					0	0	1	0	0	T	142780104	C	T	142780104	3	4	425	1	0	0	0	0	1	0	0	0	10678	826	29	2	2119	2	NR3C1	5	142780104	Missense_Mutation	SNP	C	TCGA-S9-A6WD-01A-12D-A33T-08	42557906	142780104	38135156	18	34478											
SLC6A7	6534	broad.mit.edu	37	5	149583555	149583555	+	Missense_Mutation	SNP	T	T	G			TCGA-S9-A6WD-01A-12D-A33T-08	TCGA-S9-A6WD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d203973d-84e1-49c8-ab52-9f8b466dd5ed	7c75a779-b0bd-4575-ab5d-a9d3c801f219	g.chr5:149583555T>G	ENST00000230671.2	+	10	1657	c.1286T>G	c.(1285-1287)cTc>cGc	p.L429R	SLC6A7_ENST00000524041.1_Missense_Mutation_p.L429R	NM_014228.3	NP_055043.2	Q99884	SC6A7_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 7	429						integral to plasma membrane|membrane fraction	neurotransmitter:sodium symporter activity|proline:sodium symporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1)|stomach(1)	16		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Proline(DB00172)	TTCTCAGGGCTCATCTGCGTG	0.582													3	58					0	0	1	0	0	G	149583555	T	G	149583555	3	3	425	1	0	0	0	0	1	0	0	0	14744	1551	54	5	1324	5	SLC6A7	5	149583555	Missense_Mutation	SNP	T	TCGA-S9-A6WD-01A-12D-A33T-08	6803451	149583555	31331705	19	34479											
HIVEP1	3096	broad.mit.edu	37	6	12124098	12124098	+	Missense_Mutation	SNP	C	C	A			TCGA-S9-A6WD-01A-12D-A33T-08	TCGA-S9-A6WD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d203973d-84e1-49c8-ab52-9f8b466dd5ed	7c75a779-b0bd-4575-ab5d-a9d3c801f219	g.chr6:12124098C>A	ENST00000379388.2	+	4	4402	c.4070C>A	c.(4069-4071)cCt>cAt	p.P1357H		NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	1357					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				CTGAATGTTCCTGGATGTCAC	0.428													4	133					0.00909568	0.00921536	1	1	0	A	12124098	C	A	12124098	3	1	425	1	0	0	0	0	1	0	0	0	7227	681	24	4	4080	4	HIVEP1	6	12124098	Missense_Mutation	SNP	C	TCGA-S9-A6WD-01A-12D-A33T-08		12124098	158990969	20	34480											
LRRC16A	55604	broad.mit.edu	37	6	25605088	25605088	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A6WD-01A-12D-A33T-08	TCGA-S9-A6WD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d203973d-84e1-49c8-ab52-9f8b466dd5ed	7c75a779-b0bd-4575-ab5d-a9d3c801f219	g.chr6:25605088A>G	ENST00000329474.6	+	34	3969	c.3601A>G	c.(3601-3603)Agc>Ggc	p.S1201G		NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN	leucine rich repeat containing 16A	1201					actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process	cytosol|lamellipodium|nucleus				breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						CCCAGCTTTGAGCGGCGTAGA	0.493													6	14					0	0	1	0	0	G	25605088	A	G	25605088	3	3	425	1	0	0	0	0	1	0	0	0	9016	304	11	3	3735	3	LRRC16A	6	25605088	Missense_Mutation	SNP	A	TCGA-S9-A6WD-01A-12D-A33T-08	13480990	25605088	145509979	21	34481											
ZNF292	23036	broad.mit.edu	37	6	87966803	87966806	+	Frame_Shift_Del	DEL	GTTT	GTTT	-			TCGA-S9-A6WD-01A-12D-A33T-08	TCGA-S9-A6WD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d203973d-84e1-49c8-ab52-9f8b466dd5ed	7c75a779-b0bd-4575-ab5d-a9d3c801f219	g.chr6:87966803_87966806delGTTT	ENST00000369577.3	+	8	3499_3502	c.3456_3459delGTTT	c.(3454-3459)aagtttfs	p.KF1152fs	ZNF292_ENST00000339907.4_Frame_Shift_Del_p.KF1147fs	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	1152					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		ATAATGGAAAGTTTGTTTATTTTT	0.402													30	88	---	---	---	---						-	87966806	GTTT	-	87966803	7	5	425	1	0	1	0	1	0	0	0	0	17883	1020	36	0	3486	0	ZNF292	6	87966803	Frame_Shift_Del	DEL	GTTT	TCGA-S9-A6WD-01A-12D-A33T-08	62361715	87966803	83148264	22	34482											
SYNE1	23345	broad.mit.edu	37	6	152772223	152772223	+	Missense_Mutation	SNP	T	T	A			TCGA-S9-A6WD-01A-12D-A33T-08	TCGA-S9-A6WD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d203973d-84e1-49c8-ab52-9f8b466dd5ed	7c75a779-b0bd-4575-ab5d-a9d3c801f219	g.chr6:152772223T>A	ENST00000367255.5	-	26	3746	c.3145A>T	c.(3145-3147)Atg>Ttg	p.M1049L	SYNE1_ENST00000367253.4_Missense_Mutation_p.M1049L|SYNE1_ENST00000423061.1_Missense_Mutation_p.M1056L|SYNE1_ENST00000413186.2_Missense_Mutation_p.M1049L|SYNE1_ENST00000341594.5_Missense_Mutation_p.M1115L|SYNE1_ENST00000367248.3_Missense_Mutation_p.M1039L|SYNE1_ENST00000265368.4_Missense_Mutation_p.M1049L|SYNE1_ENST00000448038.1_Missense_Mutation_p.M1056L	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1049					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TCCTGGGGCATCAGCTTGGTC	0.453										HNSCC(10;0.0054)			74	181					0	0	1	0	0	A	152772223	T	A	152772223	3	1	425	1	0	0	0	0	1	0	0	0	15502	1435	50	4	23805	4	SYNE1	6	152772223	Missense_Mutation	SNP	T	TCGA-S9-A6WD-01A-12D-A33T-08	64805420	152772223	18342844	23	34483											
MUC17	140453	broad.mit.edu	37	7	100676201	100676201	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6WD-01A-12D-A33T-08	TCGA-S9-A6WD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d203973d-84e1-49c8-ab52-9f8b466dd5ed	7c75a779-b0bd-4575-ab5d-a9d3c801f219	g.chr7:100676201C>T	ENST00000306151.4	+	3	1568	c.1504C>T	c.(1504-1506)Cca>Tca	p.P502S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	502	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TAACAGCATGCCAACCTCAAC	0.493													6	948					0	0	1	0	0	T	100676201	C	T	100676201	3	4	425	1	0	0	0	0	1	0	0	0	10022	739	26	2	1514	2	MUC17	7	100676201	Missense_Mutation	SNP	C	TCGA-S9-A6WD-01A-12D-A33T-08		100676201	58462462	24	34484											
MOGAT3	346606	broad.mit.edu	37	7	100839216	100839216	+	Silent	SNP	C	C	T			TCGA-S9-A6WD-01A-12D-A33T-08	TCGA-S9-A6WD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d203973d-84e1-49c8-ab52-9f8b466dd5ed	7c75a779-b0bd-4575-ab5d-a9d3c801f219	g.chr7:100839216C>T	ENST00000379423.3	-	6	894	c.834G>A	c.(832-834)gcG>gcA	p.A278A	MOGAT3_ENST00000223114.4_3'UTR|MOGAT3_ENST00000440203.2_3'UTR			Q86VF5	MOGT3_HUMAN	monoacylglycerol O-acyltransferase 3	0					glycerol metabolic process|lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity|diacylglycerol O-acyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(3)	22	Lung NSC(181;0.168)|all_lung(186;0.215)					AGCGAAAGGCCGCGGCCAGGC	0.627													56	90					0	0	1	0	0	T	100839216	C	T	100839216	2	4	425	1	0	0	0	0	0	0	0	1	9745	667	23	1		1	MOGAT3	7	100839216	Silent	SNP	C	TCGA-S9-A6WD-01A-12D-A33T-08	163015	100839216	58299447	25	34485											
CADPS2	93664	broad.mit.edu	37	7	122261562	122261562	+	Silent	SNP	G	G	A			TCGA-S9-A6WD-01A-12D-A33T-08	TCGA-S9-A6WD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d203973d-84e1-49c8-ab52-9f8b466dd5ed	7c75a779-b0bd-4575-ab5d-a9d3c801f219	g.chr7:122261562G>A	ENST00000334010.7	-	5	1498	c.1077C>T	c.(1075-1077)tcC>tcT	p.S359S	CADPS2_ENST00000313070.7_Silent_p.S359S|CADPS2_ENST00000449022.2_Silent_p.S359S|CADPS2_ENST00000412584.2_Silent_p.S359S	NM_001167940.1	NP_001161412.1	Q86UW7	CAPS2_HUMAN	Ca++-dependent secretion activator 2	359					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						GTACCACGTCGGACTTTGACA	0.393													5	232					0	0	1	0	0	A	122261562	G	A	122261562	2	1	425	1	0	0	0	0	0	0	0	1	2589	1103	39	1		1	CADPS2	7	122261562	Silent	SNP	G	TCGA-S9-A6WD-01A-12D-A33T-08	21422346	122261562	36877101	26	34486											
PRKDC	5591	broad.mit.edu	37	8	48715931	48715931	+	Silent	SNP	G	G	A			TCGA-S9-A6WD-01A-12D-A33T-08	TCGA-S9-A6WD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d203973d-84e1-49c8-ab52-9f8b466dd5ed	7c75a779-b0bd-4575-ab5d-a9d3c801f219	g.chr8:48715931G>A	ENST00000314191.2	-	71	9911	c.9855C>T	c.(9853-9855)tgC>tgT	p.C3285C	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Silent_p.C3285C	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	3286	FAT.				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				ACCGGCTCCGGCAGTGGCTCA	0.512								Non-homologous end-joining					5	249					0	0	1	0	0	A	48715931	G	A	48715931	2	1	425	1	0	0	0	0	0	0	0	1	12573	1195	42	2		2	PRKDC	8	48715931	Silent	SNP	G	TCGA-S9-A6WD-01A-12D-A33T-08		48715931	97648091	27	34487											
ATP6V1H	51606	broad.mit.edu	37	8	54723771	54723771	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6WD-01A-12D-A33T-08	TCGA-S9-A6WD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d203973d-84e1-49c8-ab52-9f8b466dd5ed	7c75a779-b0bd-4575-ab5d-a9d3c801f219	g.chr8:54723771G>A	ENST00000359530.2	-	7	795	c.532C>T	c.(532-534)Cgt>Tgt	p.R178C	ATP6V1H_ENST00000396774.2_Missense_Mutation_p.R178C|ATP6V1H_ENST00000355221.3_Intron|ATP6V1H_ENST00000520188.1_Missense_Mutation_p.R138C	NM_015941.3	NP_057025.2	Q9UI12	VATH_HUMAN	ATPase, H+ transporting, lysosomal 50/57kDa, V1 subunit H	178					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|endocytosis|insulin receptor signaling pathway|interspecies interaction between organisms|regulation of defense response to virus by virus|transferrin transport|vacuolar acidification|viral reproduction	cytosol|plasma membrane|vacuolar proton-transporting V-type ATPase, V1 domain	enzyme regulator activity|protein binding|proton-transporting ATPase activity, rotational mechanism			endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|urinary_tract(1)	18		all_epithelial(80;0.0487)|Lung NSC(129;0.109)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;2.79e-06)|Epithelial(17;0.000629)|all cancers(17;0.00359)			CCGCTACCACGCAGTTTCTAT	0.343													4	164					0	0	1	0	0	A	54723771	G	A	54723771	3	1	425	1	0	0	0	0	1	0	0	0	1187	1087	38	1	951	1	ATP6V1H	8	54723771	Missense_Mutation	SNP	G	TCGA-S9-A6WD-01A-12D-A33T-08	6007840	54723771	91640251	28	34488											
TRIM55	84675	broad.mit.edu	37	8	67039513	67039513	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A6WD-01A-12D-A33T-08	TCGA-S9-A6WD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d203973d-84e1-49c8-ab52-9f8b466dd5ed	7c75a779-b0bd-4575-ab5d-a9d3c801f219	g.chr8:67039513T>C	ENST00000315962.4	+	1	383	c.10T>C	c.(10-12)Tct>Cct	p.S4P	TRIM55_ENST00000350034.4_Missense_Mutation_p.S4P|TRIM55_ENST00000353317.5_Missense_Mutation_p.S4P|TRIM55_ENST00000276573.7_Missense_Mutation_p.S4P	NM_184085.1	NP_908973.1	Q9BYV6	TRI55_HUMAN	tripartite motif containing 55	4						cytoplasm|microtubule|nucleus	signal transducer activity|zinc ion binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	39		Lung NSC(129;0.138)|all_lung(136;0.221)	Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)			GATGAGCGCATCTCTGAATTA	0.483													32	131					0	0	1	0	0	C	67039513	T	C	67039513	3	2	425	1	0	0	0	0	1	0	0	0	16590	1435	50	3	12	3	TRIM55	8	67039513	Missense_Mutation	SNP	T	TCGA-S9-A6WD-01A-12D-A33T-08	12315742	67039513	79324509	29	34489											
SULF1	23213	broad.mit.edu	37	8	70541854	70541854	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6WD-01A-12D-A33T-08	TCGA-S9-A6WD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d203973d-84e1-49c8-ab52-9f8b466dd5ed	7c75a779-b0bd-4575-ab5d-a9d3c801f219	g.chr8:70541854C>T	ENST00000260128.4	+	19	2941	c.2224C>T	c.(2224-2226)Cct>Tct	p.P742S	SULF1_ENST00000402687.4_Missense_Mutation_p.P742S|SULF1_ENST00000521946.1_3'UTR|SULF1_ENST00000419716.3_Missense_Mutation_p.P742S|SULF1_ENST00000458141.2_Missense_Mutation_p.P742S	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	742					apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			GTGCAGCCTGCCTGGCCTCAC	0.537													5	247					0	0	1	0	0	T	70541854	C	T	70541854	3	4	425	1	0	0	0	0	1	0	0	0	15426	739	26	2	2282	2	SULF1	8	70541854	Missense_Mutation	SNP	C	TCGA-S9-A6WD-01A-12D-A33T-08	3502341	70541854	75822168	30	34490											
KCNB2	9312	broad.mit.edu	37	8	73480200	73480200	+	Silent	SNP	C	C	T			TCGA-S9-A6WD-01A-12D-A33T-08	TCGA-S9-A6WD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d203973d-84e1-49c8-ab52-9f8b466dd5ed	7c75a779-b0bd-4575-ab5d-a9d3c801f219	g.chr8:73480200C>T	ENST00000523207.1	+	2	819	c.231C>T	c.(229-231)tgC>tgT	p.C77C		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	77					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)			TGGAAGTGTGCGACGACTATA	0.522													4	163					0	0	1	0	0	T	73480200	C	T	73480200	2	4	425	1	0	0	0	0	0	0	0	1	8057	776	27	1		1	KCNB2	8	73480200	Silent	SNP	C	TCGA-S9-A6WD-01A-12D-A33T-08	2938346	73480200	72883822	31	34491											
TMEM72	643236	broad.mit.edu	37	10	45430279	45430279	+	Silent	SNP	C	C	G			TCGA-S9-A6WD-01A-12D-A33T-08	TCGA-S9-A6WD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d203973d-84e1-49c8-ab52-9f8b466dd5ed	7c75a779-b0bd-4575-ab5d-a9d3c801f219	g.chr10:45430279C>G	ENST00000544540.1	+	4	655	c.171C>G	c.(169-171)ctC>ctG	p.L57L	TMEM72-AS1_ENST00000450287.2_RNA			A0PK05	TMM72_HUMAN	transmembrane protein 72	175						integral to membrane				breast(2)|kidney(1)|large_intestine(2)|lung(10)	15						ATGGGGCCCTCAAGGAGGGGC	0.602													148	222					0	0	1	0	0	G	45430279	C	G	45430279	2	3	425	1	0	0	0	0	0	0	0	1	16261	813	29	5		5	TMEM72	10	45430279	Silent	SNP	C	TCGA-S9-A6WD-01A-12D-A33T-08		45430279	90104468	32	34492											
GLUD1	2746	broad.mit.edu	37	10	88836407	88836407	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6WD-01A-12D-A33T-08	TCGA-S9-A6WD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d203973d-84e1-49c8-ab52-9f8b466dd5ed	7c75a779-b0bd-4575-ab5d-a9d3c801f219	g.chr10:88836407C>T	ENST00000277865.4	-	2	548	c.452G>A	c.(451-453)cGt>cAt	p.R151H	GLUD1_ENST00000537649.1_5'UTR|GLUD1_ENST00000544149.1_Missense_Mutation_p.R18H	NM_005271.3	NP_005262.1	P00367	DHE3_HUMAN	glutamate dehydrogenase 1	151					glutamate biosynthetic process|glutamate catabolic process|positive regulation of insulin secretion	mitochondrial matrix	ADP binding|ATP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|identical protein binding|leucine binding|NAD+ binding			endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(11)|prostate(1)	22					L-Glutamic Acid(DB00142)|NADH(DB00157)	AGTGCTGTAACGGATACCTGG	0.403													70	124					0	0	1	0	0	T	88836407	C	T	88836407	3	4	425	1	0	0	0	0	1	0	0	0	6518	536	19	1	1272	1	GLUD1	10	88836407	Missense_Mutation	SNP	C	TCGA-S9-A6WD-01A-12D-A33T-08	43406128	88836407	46698340	33	34493											
CAT	847	broad.mit.edu	37	11	34475370	34475370	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6WD-01A-12D-A33T-08	TCGA-S9-A6WD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d203973d-84e1-49c8-ab52-9f8b466dd5ed	7c75a779-b0bd-4575-ab5d-a9d3c801f219	g.chr11:34475370G>A	ENST00000241052.4	+	6	697	c.608G>A	c.(607-609)cGg>cAg	p.R203Q		NM_001752.3	NP_001743.1	P04040	CATA_HUMAN	catalase	203					hydrogen peroxide catabolic process|negative regulation of apoptosis|positive regulation of cell division|protein tetramerization|purine base metabolic process|purine nucleotide catabolic process|UV protection	peroxisomal matrix|peroxisomal membrane	catalase activity|heme binding|NADP binding|protein homodimerization activity			breast(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(3)	26		Lung NSC(402;2.76e-08)|Acute lymphoblastic leukemia(5;0.00143)|all_hematologic(20;0.0116)|Melanoma(852;0.027)		BRCA - Breast invasive adenocarcinoma(625;0.000995)	Fomepizole(DB01213)	TTCAGTGATCGGGGGATTCCA	0.343													76	145					0	0	1	0	0	A	34475370	G	A	34475370	3	1	425	1	0	0	0	0	1	0	0	0	2704	1116	39	1	630	1	CAT	11	34475370	Missense_Mutation	SNP	G	TCGA-S9-A6WD-01A-12D-A33T-08		34475370	100531146	34	34494											
PTPRJ	5795	broad.mit.edu	37	11	48146663	48146663	+	Silent	SNP	C	C	A	rs142177730		TCGA-S9-A6WD-01A-12D-A33T-08	TCGA-S9-A6WD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d203973d-84e1-49c8-ab52-9f8b466dd5ed	7c75a779-b0bd-4575-ab5d-a9d3c801f219	g.chr11:48146663C>A	ENST00000418331.2	+	6	1370	c.1018C>A	c.(1018-1020)Cga>Aga	p.R340R	PTPRJ_ENST00000440289.2_Silent_p.R340R	NM_002843.3	NP_002834.3	Q12913	PTPRJ_HUMAN	protein tyrosine phosphatase, receptor type, J	340	Fibronectin type-III 3.				contact inhibition|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of T cell receptor signaling pathway|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression	cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane	beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity			breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						GCCTGGCACCCGATACAATGC	0.562													51	172					5.57489e-27	5.88037e-27	1	1	0	A	48146663	C	A	48146663	2	1	425	1	0	0	0	0	0	0	0	1	12856	644	23	5		5	PTPRJ	11	48146663	Silent	SNP	C	TCGA-S9-A6WD-01A-12D-A33T-08	13671293	48146663	86859853	35	34495											
ITGBL1	9358	broad.mit.edu	37	13	102227854	102227854	+	Silent	SNP	C	C	T			TCGA-S9-A6WD-01A-12D-A33T-08	TCGA-S9-A6WD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d203973d-84e1-49c8-ab52-9f8b466dd5ed	7c75a779-b0bd-4575-ab5d-a9d3c801f219	g.chr13:102227854C>T	ENST00000376180.3	+	4	762	c.543C>T	c.(541-543)gaC>gaT	p.D181D	ITGBL1_ENST00000545560.2_Silent_p.D40D|ITGBL1_ENST00000376162.3_Silent_p.D88D	NM_001271756.1|NM_004791.1	NP_001258685.1|NP_004782.1	O95965	ITGBL_HUMAN	integrin, beta-like 1 (with EGF-like repeat domains)	181	Cysteine-rich tandem repeats.				cell-matrix adhesion|integrin-mediated signaling pathway	extracellular region|integrin complex	binding|receptor activity			breast(1)|large_intestine(6)|lung(16)|ovary(1)|prostate(4)|skin(3)	31	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GTGAGTGTGACGATAGAGAAT	0.348													11	364					0	0	1	0	0	T	102227854	C	T	102227854	2	4	425	1	0	0	0	0	0	0	0	1	7946	535	19	1		1	ITGBL1	13	102227854	Silent	SNP	C	TCGA-S9-A6WD-01A-12D-A33T-08		102227854	12942024	36	34496											
ARGLU1	55082	broad.mit.edu	37	13	107219953	107219955	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-S9-A6WD-01A-12D-A33T-08	TCGA-S9-A6WD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d203973d-84e1-49c8-ab52-9f8b466dd5ed	7c75a779-b0bd-4575-ab5d-a9d3c801f219	g.chr13:107219953_107219955delCTC	ENST00000400198.3	-	1	557_559	c.313_315delGAG	c.(313-315)gagdel	p.E105del		NM_018011.3	NP_060481.3	Q9NWB6	ARGL1_HUMAN	arginine and glutamate rich 1	105	Glu-rich.									large_intestine(1)|lung(5)|pancreas(1)	7	Lung NSC(43;0.015)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169)					CCGCTTTCTTCTCCTCCTCCTCT	0.714													51	125	---	---	---	---						-	107219955	CTC	-	107219953	7	5	425	1	0	1	0	1	0	0	0	0	857	912	32	0	522	0	ARGLU1	13	107219953	In_Frame_Del	DEL	CTC	TCGA-S9-A6WD-01A-12D-A33T-08	4992099	107219953	7949925	37	34497											
UBR7	55148	broad.mit.edu	37	14	93693343	93693345	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-S9-A6WD-01A-12D-A33T-08	TCGA-S9-A6WD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d203973d-84e1-49c8-ab52-9f8b466dd5ed	7c75a779-b0bd-4575-ab5d-a9d3c801f219	g.chr14:93693343_93693345delAGA	ENST00000013070.6	+	11	1476_1478	c.1240_1242delAGA	c.(1240-1242)agadel	p.R416del	UBR7_ENST00000416753.1_In_Frame_Del_p.R340del	NM_175748.3	NP_786924.2	Q8N806	UBR7_HUMAN	ubiquitin protein ligase E3 component n-recognin 7 (putative)	416							ubiquitin-protein ligase activity|zinc ion binding			breast(2)|endometrium(2)|large_intestine(2)|lung(12)|urinary_tract(1)	19						GTCAAAAAAGAGAAGAAGAGTGG	0.374													38	82	---	---	---	---						-	93693345	AGA	-	93693343	7	5	425	1	0	1	0	1	0	0	0	0	16967	296	11	0	1282	0	UBR7	14	93693343	In_Frame_Del	DEL	AGA	TCGA-S9-A6WD-01A-12D-A33T-08		93693343	13656197	38	34498											
CYP11A1	1583	broad.mit.edu	37	15	74637578	74637578	+	Silent	SNP	C	C	T			TCGA-S9-A6WD-01A-12D-A33T-08	TCGA-S9-A6WD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d203973d-84e1-49c8-ab52-9f8b466dd5ed	7c75a779-b0bd-4575-ab5d-a9d3c801f219	g.chr15:74637578C>T	ENST00000268053.6	-	3	586	c.432G>A	c.(430-432)tcG>tcA	p.S144S	CYP11A1_ENST00000358632.4_5'UTR|CYP11A1_ENST00000541301.1_Intron|CYP11A1_ENST00000419019.2_5'UTR	NM_000781.2	NP_000772.2	P05108	CP11A_HUMAN	cytochrome P450, family 11, subfamily A, polypeptide 1	144					C21-steroid hormone biosynthetic process|cholesterol metabolic process|vitamin D metabolic process|xenobiotic metabolic process	mitochondrial matrix	cholesterol monooxygenase (side-chain-cleaving) activity|electron carrier activity|heme binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20					Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Clotrimazole(DB00257)|Digitoxin(DB01396)|Digoxin(DB00390)|Medroxyprogesterone(DB00603)|Ouabain(DB01092)|Progesterone(DB00396)|Testosterone(DB00624)|Trilostane(DB01108)	TCCAGGCTGCCGACTTCCTGA	0.582													25	43					0	0	1	0	0	T	74637578	C	T	74637578	2	4	425	1	0	0	0	0	0	0	0	1	4167	639	23	1		1	CYP11A1	15	74637578	Silent	SNP	C	TCGA-S9-A6WD-01A-12D-A33T-08		74637578	27893814	39	34499											
MPG	4350	broad.mit.edu	37	16	135641	135641	+	Silent	SNP	G	G	A	rs140510538		TCGA-S9-A6WD-01A-12D-A33T-08	TCGA-S9-A6WD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d203973d-84e1-49c8-ab52-9f8b466dd5ed	7c75a779-b0bd-4575-ab5d-a9d3c801f219	g.chr16:135641G>A	ENST00000219431.4	+	5	993	c.762G>A	c.(760-762)ccG>ccA	p.P254P	MPG_ENST00000397817.1_Silent_p.P237P	NM_002434.3	NP_002425.2	P29372	3MG_HUMAN	N-methylpurine-DNA glycosylase	254					depurination|DNA dealkylation involved in DNA repair	nucleoplasm	alkylbase DNA N-glycosylase activity|damaged DNA binding|identical protein binding			endometrium(4)|kidney(1)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9		all_cancers(16;9.01e-08)|all_epithelial(16;7.64e-07)|Hepatocellular(780;0.000325)|Lung NSC(18;0.0104)|all_lung(18;0.0239)				CCAGTGAGCCGGCTGTAGTGG	0.667								Base excision repair (BER), DNA glycosylases					10	29					0	0	1	0	0	A	135641	G	A	135641	2	1	425	1	0	0	0	0	0	0	0	1	9773	1103	39	1		1	MPG	16	135641	Silent	SNP	G	TCGA-S9-A6WD-01A-12D-A33T-08		135641	90219112	40	34500											
SNX29	92017	broad.mit.edu	37	16	12662399	12662399	+	Silent	SNP	G	G	A			TCGA-S9-A6WD-01A-12D-A33T-08	TCGA-S9-A6WD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d203973d-84e1-49c8-ab52-9f8b466dd5ed	7c75a779-b0bd-4575-ab5d-a9d3c801f219	g.chr16:12662399G>A	ENST00000566228.1	+	21	2424	c.2355G>A	c.(2353-2355)cgG>cgA	p.R785R	SNX29_ENST00000306030.3_Silent_p.R400R|CTD-3037G24.3_ENST00000564505.1_RNA	NM_032167.3	NP_115543.3	Q8TEQ0	SNX29_HUMAN	sorting nexin 29	400					cell communication		phosphatidylinositol binding			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	7						TGAACAGCCGGCCCAAAGCAG	0.622													4	87					0	0	1	0	0	A	12662399	G	A	12662399	2	1	425	1	0	0	0	0	0	0	0	1	14952	1190	42	2		2	SNX29	16	12662399	Silent	SNP	G	TCGA-S9-A6WD-01A-12D-A33T-08	12526758	12662399	77692354	41	34501											
IGSF6	10261	broad.mit.edu	37	16	21658503	21658503	+	Silent	SNP	C	C	T			TCGA-S9-A6WD-01A-12D-A33T-08	TCGA-S9-A6WD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d203973d-84e1-49c8-ab52-9f8b466dd5ed	7c75a779-b0bd-4575-ab5d-a9d3c801f219	g.chr16:21658503C>T	ENST00000268389.4	-	2	439	c.378G>A	c.(376-378)ccG>ccA	p.P126P	METTL9_ENST00000358154.3_Intron|METTL9_ENST00000396014.4_Intron	NM_005849.3	NP_005840.2	O95976	IGSF6_HUMAN	immunoglobulin superfamily, member 6	126	Ig-like C2-type.				cell surface receptor linked signaling pathway|immune response	integral to plasma membrane	transmembrane receptor activity			endometrium(1)|large_intestine(1)|lung(4)|urinary_tract(1)	7				GBM - Glioblastoma multiforme(48;0.066)		CTCTCGCTTCCGGCACACTGG	0.488													5	243					0	0	1	0	0	T	21658503	C	T	21658503	2	4	425	1	0	0	0	0	0	0	0	1	7647	639	23	1		1	IGSF6	16	21658503	Silent	SNP	C	TCGA-S9-A6WD-01A-12D-A33T-08	8996104	21658503	68696250	42	34502											
GSG1L	146395	broad.mit.edu	37	16	27856321	27856321	+	Silent	SNP	G	G	A			TCGA-S9-A6WD-01A-12D-A33T-08	TCGA-S9-A6WD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d203973d-84e1-49c8-ab52-9f8b466dd5ed	7c75a779-b0bd-4575-ab5d-a9d3c801f219	g.chr16:27856321G>A	ENST00000380898.2	-	4	696	c.147C>T	c.(145-147)ctC>ctT	p.L49L	GSG1L_ENST00000395724.3_Silent_p.L153L|GSG1L_ENST00000447459.2_Silent_p.L204L|GSG1L_ENST00000380897.3_Silent_p.L49L|GSG1L_ENST00000569166.1_Silent_p.L49L			Q6UXU4	GSG1L_HUMAN	GSG1-like	204						integral to membrane				endometrium(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(4)	17						CCTCAGGACCGAGGCTCACGG	0.602													13	35					0	0	1	0	0	A	27856321	G	A	27856321	2	1	425	1	0	0	0	0	0	0	0	1	6862	1045	37	1		1	GSG1L	16	27856321	Silent	SNP	G	TCGA-S9-A6WD-01A-12D-A33T-08	6197818	27856321	62498432	43	34503											
COG4	25839	broad.mit.edu	37	16	70546310	70546310	+	Silent	SNP	T	T	C			TCGA-S9-A6WD-01A-12D-A33T-08	TCGA-S9-A6WD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d203973d-84e1-49c8-ab52-9f8b466dd5ed	7c75a779-b0bd-4575-ab5d-a9d3c801f219	g.chr16:70546310T>C	ENST00000323786.5	-	5	591	c.570A>G	c.(568-570)aaA>aaG	p.K190K	COG4_ENST00000564653.1_Intron|COG4_ENST00000393612.4_Silent_p.K186K	NM_001195139.1|NM_015386.2	NP_001182068.1|NP_056201.2	Q9H9E3	COG4_HUMAN	component of oligomeric golgi complex 4	186					Golgi organization|Golgi vesicle prefusion complex stabilization|protein transport|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|pancreas(1)|prostate(2)	33		Ovarian(137;0.0694)				CCTGCAGCAATTTCAGGTTGG	0.478													18	36					0	0	1	0	0	C	70546310	T	C	70546310	2	2	425	1	0	0	0	0	0	0	0	1	3683	1490	52	3		3	COG4	16	70546310	Silent	SNP	T	TCGA-S9-A6WD-01A-12D-A33T-08	42689989	70546310	19808443	44	34504											
EPX	8288	broad.mit.edu	37	17	56270829	56270829	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6WD-01A-12D-A33T-08	TCGA-S9-A6WD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d203973d-84e1-49c8-ab52-9f8b466dd5ed	7c75a779-b0bd-4575-ab5d-a9d3c801f219	g.chr17:56270829G>A	ENST00000225371.5	+	3	378	c.268G>A	c.(268-270)Gca>Aca	p.A90T		NM_000502.4	NP_000493.1	P11678	PERE_HUMAN	eosinophil peroxidase	90					hydrogen peroxide catabolic process		heme binding|peroxidase activity|protein binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	48						TGTTCGGGCCGCAGATTATAT	0.572													56	137					0	0	1	0	0	A	56270829	G	A	56270829	3	1	425	1	0	0	0	0	1	0	0	0	5228	1087	38	1	278	1	EPX	17	56270829	Missense_Mutation	SNP	G	TCGA-S9-A6WD-01A-12D-A33T-08		56270829	24924381	45	34505											
DSC1	1823	broad.mit.edu	37	18	28710645	28710645	+	Silent	SNP	C	C	T			TCGA-S9-A6WD-01A-12D-A33T-08	TCGA-S9-A6WD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d203973d-84e1-49c8-ab52-9f8b466dd5ed	7c75a779-b0bd-4575-ab5d-a9d3c801f219	g.chr18:28710645C>T	ENST00000257198.5	-	16	2778	c.2517G>A	c.(2515-2517)gaG>gaA	p.E839E	RP11-408H20.2_ENST00000581836.1_RNA|DSC1_ENST00000257197.3_3'UTR	NM_024421.2	NP_077739.1	Q08554	DSC1_HUMAN	desmocollin 1	839					homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			AATGTTTATGCTCCTCATCTT	0.388													4	158					0	0	1	0	0	T	28710645	C	T	28710645	2	4	425	1	0	0	0	0	0	0	0	1	4791	796	28	2		2	DSC1	18	28710645	Silent	SNP	C	TCGA-S9-A6WD-01A-12D-A33T-08		28710645	49366603	46	34506											
HMHA1	23526	broad.mit.edu	37	19	1080922	1080922	+	Silent	SNP	G	G	A			TCGA-S9-A6WD-01A-12D-A33T-08	TCGA-S9-A6WD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d203973d-84e1-49c8-ab52-9f8b466dd5ed	7c75a779-b0bd-4575-ab5d-a9d3c801f219	g.chr19:1080922G>A	ENST00000313093.2	+	17	2280	c.2049G>A	c.(2047-2049)ccG>ccA	p.P683P	HMHA1_ENST00000543365.1_Silent_p.P566P|HMHA1_ENST00000590577.1_Silent_p.P318P|HMHA1_ENST00000539243.2_Silent_p.P699P|HMHA1_ENST00000536472.1_Silent_p.P551P|HMHA1_ENST00000590214.1_Silent_p.P710P|HMHA1_ENST00000586866.1_Silent_p.P687P	NM_012292.3	NP_036424.2	Q92619	HMHA1_HUMAN	histocompatibility (minor) HA-1	683					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(7)|ovary(1)|prostate(2)	16		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)		CCGAGCTGCCGGTGGCCGTGC	0.701													15	25					0	0	1	0	0	A	1080922	G	A	1080922	2	1	425	1	0	0	0	0	0	0	0	1	7281	1103	39	1		1	HMHA1	19	1080922	Silent	SNP	G	TCGA-S9-A6WD-01A-12D-A33T-08		1080922	58048061	47	34507											
INSR	3643	broad.mit.edu	37	19	7267448	7267448	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6WD-01A-12D-A33T-08	TCGA-S9-A6WD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d203973d-84e1-49c8-ab52-9f8b466dd5ed	7c75a779-b0bd-4575-ab5d-a9d3c801f219	g.chr19:7267448G>A	ENST00000341500.5	-	2	599	c.560C>T	c.(559-561)cCg>cTg	p.P187L	INSR_ENST00000302850.5_Missense_Mutation_p.P187L	NM_001079817.1	NP_001073285.1	P06213	INSR_HUMAN	insulin receptor	187	Cys-rich.				activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus	caveola|endosome membrane|insulin receptor complex|microsome	ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding	p.P187L(4)		breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CGCGGTACCCGGACAGATGTC	0.537													4	150					0	0	1	0	0	A	7267448	G	A	7267448	3	1	425	1	0	0	0	0	1	0	0	0	7817	1116	39	1	3672	1	INSR	19	7267448	Missense_Mutation	SNP	G	TCGA-S9-A6WD-01A-12D-A33T-08	6186526	7267448	51861535	48	34508											
IL27RA	9466	broad.mit.edu	37	19	14157003	14157003	+	Nonsense_Mutation	SNP	G	G	A			TCGA-S9-A6WD-01A-12D-A33T-08	TCGA-S9-A6WD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d203973d-84e1-49c8-ab52-9f8b466dd5ed	7c75a779-b0bd-4575-ab5d-a9d3c801f219	g.chr19:14157003G>A	ENST00000263379.2	+	7	931	c.806G>A	c.(805-807)tGg>tAg	p.W269*		NM_004843.3	NP_004834.1	Q6UWB1	I27RA_HUMAN	interleukin 27 receptor, alpha	269					cell surface receptor linked signaling pathway|immune response	integral to plasma membrane	transmembrane receptor activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	26						TACAAAGTCTGGTTCTGGGTT	0.552													132	232					0	0	1	0	0	A	14157003	G	A	14157003	4	1	425	1	0	0	0	0	0	1	0	0	7725	1357	47	2	832	2	IL27RA	19	14157003	Nonsense_Mutation	SNP	G	TCGA-S9-A6WD-01A-12D-A33T-08	6889555	14157003	44971980	49	34509											
CIC	23152	broad.mit.edu	37	19	42799051	42799051	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6WD-01A-12D-A33T-08	TCGA-S9-A6WD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d203973d-84e1-49c8-ab52-9f8b466dd5ed	7c75a779-b0bd-4575-ab5d-a9d3c801f219	g.chr19:42799051G>A	ENST00000572681.2	+	21	7321	c.7253G>A	c.(7252-7254)cGt>cAt	p.R2418H	CIC_ENST00000575354.2_Missense_Mutation_p.R1512H|CIC_ENST00000160740.3_Missense_Mutation_p.R1510H			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	1512					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				TTGAAGATCCGTGAGGTGCGC	0.627			"Mis, F, S"		oligodendroglioma								4	85					0	0	1	0	0	A	42799051	G	A	42799051	3	1	425	1	0	0	0	0	1	0	0	0	3446	1145	40	1	4613	1	CIC	19	42799051	Missense_Mutation	SNP	G	TCGA-S9-A6WD-01A-12D-A33T-08	28642048	42799051	16329932	50	34510											
ZFP28	140612	broad.mit.edu	37	19	57066157	57066157	+	Missense_Mutation	SNP	C	C	A			TCGA-S9-A6WD-01A-12D-A33T-08	TCGA-S9-A6WD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d203973d-84e1-49c8-ab52-9f8b466dd5ed	7c75a779-b0bd-4575-ab5d-a9d3c801f219	g.chr19:57066157C>A	ENST00000301318.3	+	8	2074	c.2003C>A	c.(2002-2004)aCa>aAa	p.T668K	AC007228.11_ENST00000596587.1_RNA	NM_020828.1	NP_065879.1	Q8NHY6	ZFP28_HUMAN	ZFP28 zinc finger protein	668					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(6)|ovary(1)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	35		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0302)		AAAACCCATACAGGAGAGAAA	0.463													48	22					8.72198e-27	9.07558e-27	1	1	0	A	57066157	C	A	57066157	3	1	425	1	0	0	0	0	1	0	0	0	17700	478	17	5	2033	5	ZFP28	19	57066157	Missense_Mutation	SNP	C	TCGA-S9-A6WD-01A-12D-A33T-08	14267106	57066157	2062826	51	34511											
HSPA13	6782	broad.mit.edu	37	21	15750617	15750617	+	Silent	SNP	T	T	C			TCGA-S9-A6WD-01A-12D-A33T-08	TCGA-S9-A6WD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d203973d-84e1-49c8-ab52-9f8b466dd5ed	7c75a779-b0bd-4575-ab5d-a9d3c801f219	g.chr21:15750617T>C	ENST00000285667.3	-	3	550	c.483A>G	c.(481-483)gcA>gcG	p.A161A	HSPA13_ENST00000544452.1_Intron	NM_006948.4	NP_008879.3	P48723	HSP13_HUMAN	heat shock protein 70kDa family, member 13	161						endoplasmic reticulum|microsome	ATP binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13						TTCCAAGATATGCCTCTGCCA	0.408													83	113					0	0	1	0	0	C	15750617	T	C	15750617	2	2	425	1	0	0	0	0	0	0	0	1	7449	1451	51	3		3	HSPA13	21	15750617	Silent	SNP	T	TCGA-S9-A6WD-01A-12D-A33T-08		15750617	32379278	52	34512											
FOXR2	139628	broad.mit.edu	37	X	55651077	55651077	+	Silent	SNP	T	T	C			TCGA-S9-A6WD-01A-12D-A33T-08	TCGA-S9-A6WD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d203973d-84e1-49c8-ab52-9f8b466dd5ed	7c75a779-b0bd-4575-ab5d-a9d3c801f219	g.chrX:55651077T>C	ENST00000339140.3	+	1	1245	c.933T>C	c.(931-933)ctT>ctC	p.L311L		NM_198451.3	NP_940853.1	Q6PJQ5	FOXR2_HUMAN	forkhead box R2	311					embryo development|organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	19						TCTTTGATCTTTGAAATGCCA	0.478													9	37					0	0	1	0	0	C	55651077	T	C	55651077	2	2	425	1	0	0	0	0	0	0	0	1	6066	1828	64	3		3	FOXR2	23	55651077	Silent	SNP	T	TCGA-S9-A6WD-01A-12D-A33T-08		55651077	99619483	53	34513											
HEATR5B	54497	broad.mit.edu	37	2	37229591	37229591	+	Silent	SNP	C	C	T			TCGA-S9-A6WE-01A-12D-A33T-08	TCGA-S9-A6WE-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc116e35-9224-47ce-a37e-a8adbf2b3be5	fdf5aabf-afa2-401d-a368-15b5ad44eb7c	g.chr2:37229591C>T	ENST00000233099.5	-	32	5270	c.5175G>A	c.(5173-5175)cgG>cgA	p.R1725R	HEATR5B_ENST00000354531.2_Intron	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	1725							binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				GTGGCATATGCCGTACTAAAA	0.478													5	232					0	0	1	0	0	T	37229591	C	T	37229591	2	4	426	1	0	0	0	0	0	0	0	1	7073	726	26	2		2	HEATR5B	2	37229591	Silent	SNP	C	TCGA-S9-A6WE-01A-12D-A33T-08		37229591	205969782	1	34514											
PGAP1	80055	broad.mit.edu	37	2	197791237	197791237	+	Missense_Mutation	SNP	T	T	C	rs149238260		TCGA-S9-A6WE-01A-12D-A33T-08	TCGA-S9-A6WE-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc116e35-9224-47ce-a37e-a8adbf2b3be5	fdf5aabf-afa2-401d-a368-15b5ad44eb7c	g.chr2:197791237T>C	ENST00000354764.4	-	1	218	c.104A>G	c.(103-105)aAt>aGt	p.N35S	PGAP1_ENST00000409475.1_Missense_Mutation_p.N35S|PGAP1_ENST00000409188.1_Intron|PGAP1_ENST00000485830.1_Intron	NM_024989.3	NP_079265.2	Q75T13	PGAP1_HUMAN	post-GPI attachment to proteins 1						attachment of GPI anchor to protein|C-terminal protein lipidation|intracellular protein transport|myo-inositol transport	integral to membrane|intrinsic to endoplasmic reticulum membrane	nuclease activity|phosphoric ester hydrolase activity			breast(4)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|ovary(6)|stomach(1)|urinary_tract(1)	40						ACTGCACTTATTCTCCTCGAA	0.522													6	460					0	0	1	0	0	C	197791237	T	C	197791237	3	2	426	1	0	0	0	0	1	0	0	0	11825	1493	52	3	2772	3	PGAP1	2	197791237	Missense_Mutation	SNP	T	TCGA-S9-A6WE-01A-12D-A33T-08	160561646	197791237	45408136	2	34515	147	2									
PGAP1	80055	broad.mit.edu	37	2	197791240	197791240	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A6WE-01A-12D-A33T-08	TCGA-S9-A6WE-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc116e35-9224-47ce-a37e-a8adbf2b3be5	fdf5aabf-afa2-401d-a368-15b5ad44eb7c	g.chr2:197791240T>C	ENST00000354764.4	-	1	215	c.101A>G	c.(100-102)gAg>gGg	p.E34G	PGAP1_ENST00000409475.1_Missense_Mutation_p.E34G|PGAP1_ENST00000409188.1_Intron|PGAP1_ENST00000485830.1_Intron	NM_024989.3	NP_079265.2	Q75T13	PGAP1_HUMAN	post-GPI attachment to proteins 1						attachment of GPI anchor to protein|C-terminal protein lipidation|intracellular protein transport|myo-inositol transport	integral to membrane|intrinsic to endoplasmic reticulum membrane	nuclease activity|phosphoric ester hydrolase activity			breast(4)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|ovary(6)|stomach(1)|urinary_tract(1)	40						GCACTTATTCTCCTCGAAGCC	0.522													6	462					0	0	1	0	0	C	197791240	T	C	197791240	3	2	426	1	0	0	0	0	1	0	0	0	11825	1551	54	3	2775	3	PGAP1	2	197791240	Missense_Mutation	SNP	T	TCGA-S9-A6WE-01A-12D-A33T-08	3	197791240	45408133	3	34516	147	2									
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-S9-A6WE-01A-12D-A33T-08	TCGA-S9-A6WE-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc116e35-9224-47ce-a37e-a8adbf2b3be5	fdf5aabf-afa2-401d-a368-15b5ad44eb7c	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	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								60	81					0	0	1	0	0	T	209113112	C	T	209113112	3	4	426	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-S9-A6WE-01A-12D-A33T-08	11321872	209113112	34086261	4	34517											
PIKFYVE	200576	broad.mit.edu	37	2	209165737	209165737	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A6WE-01A-12D-A33T-08	TCGA-S9-A6WE-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc116e35-9224-47ce-a37e-a8adbf2b3be5	fdf5aabf-afa2-401d-a368-15b5ad44eb7c	g.chr2:209165737A>G	ENST00000264380.4	+	9	1285	c.1127A>G	c.(1126-1128)tAc>tGc	p.Y376C	PIKFYVE_ENST00000308862.6_Missense_Mutation_p.Y290C|PIKFYVE_ENST00000407449.1_Missense_Mutation_p.Y376C|PIKFYVE_ENST00000392202.3_Missense_Mutation_p.Y279C	NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	376	DEP.				cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						GATCACCGCTACTGGTTGAGA	0.438													64	86					0	0	1	0	0	G	209165737	A	G	209165737	3	3	426	1	0	0	0	0	1	0	0	0	11972	391	14	3	1157	3	PIKFYVE	2	209165737	Missense_Mutation	SNP	A	TCGA-S9-A6WE-01A-12D-A33T-08	52625	209165737	34033636	5	34518											
PDS5A	23244	broad.mit.edu	37	4	39911877	39911877	+	Silent	SNP	C	C	T			TCGA-S9-A6WE-01A-12D-A33T-08	TCGA-S9-A6WE-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc116e35-9224-47ce-a37e-a8adbf2b3be5	fdf5aabf-afa2-401d-a368-15b5ad44eb7c	g.chr4:39911877C>T	ENST00000303538.8	-	10	1613	c.1074G>A	c.(1072-1074)gcG>gcA	p.A358A	PDS5A_ENST00000503396.1_Silent_p.A358A	NM_001100399.1	NP_001093869.1	Q29RF7	PDS5A_HUMAN	PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae)	358					cell division|mitosis|negative regulation of DNA replication	chromatin|nucleus	identical protein binding			breast(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(14)|prostate(3)|skin(1)|urinary_tract(1)	39						TGAGATCCTTCGCTAAATCTG	0.343													3	9					0	0	1	0	0	T	39911877	C	T	39911877	2	4	426	1	0	0	0	0	0	0	0	1	11738	871	31	1		1	PDS5A	4	39911877	Silent	SNP	C	TCGA-S9-A6WE-01A-12D-A33T-08		39911877	151242399	6	34519											
PPIC	5480	broad.mit.edu	37	5	122361500	122361500	+	Silent	SNP	A	A	G			TCGA-S9-A6WE-01A-12D-A33T-08	TCGA-S9-A6WE-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc116e35-9224-47ce-a37e-a8adbf2b3be5	fdf5aabf-afa2-401d-a368-15b5ad44eb7c	g.chr5:122361500A>G	ENST00000306442.4	-	4	604	c.489T>C	c.(487-489)ttT>ttC	p.F163F		NM_000943.4	NP_000934.1	P45877	PPIC_HUMAN	peptidylprolyl isomerase C (cyclophilin C)	163	PPIase cyclophilin-type.				protein folding|signal transduction	cytoplasm	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity|unfolded protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	6		all_cancers(142;0.0168)|Prostate(80;0.0322)|Lung NSC(810;0.102)|all_lung(232;0.163)	KIRC - Kidney renal clear cell carcinoma(527;0.0897)|Kidney(363;0.137)	OV - Ovarian serous cystadenocarcinoma(64;0.000331)|Epithelial(69;0.000553)|all cancers(49;0.00505)	L-Proline(DB00172)	TGACTTTTCCAAACACCACAT	0.403													60	73					0	0	1	0	0	G	122361500	A	G	122361500	2	3	426	1	0	0	0	0	0	0	0	1	12369	127	5	3		3	PPIC	5	122361500	Silent	SNP	A	TCGA-S9-A6WE-01A-12D-A33T-08		122361500	58553760	7	34520											
LMOD2	442721	broad.mit.edu	37	7	123302544	123302544	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6WE-01A-12D-A33T-08	TCGA-S9-A6WE-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc116e35-9224-47ce-a37e-a8adbf2b3be5	fdf5aabf-afa2-401d-a368-15b5ad44eb7c	g.chr7:123302544C>T	ENST00000458573.2	+	2	1061	c.904C>T	c.(904-906)Cgt>Tgt	p.R302C	LMOD2_ENST00000456238.2_Intron	NM_207163.1	NP_997046.1	Q6P5Q4	LMOD2_HUMAN	leiomodin 2 (cardiac)	302						cytoskeleton	actin binding|tropomyosin binding										CACGGAGCTGCGTTTCCATAA	0.537													5	147					0	0	1	0	0	T	123302544	C	T	123302544	3	4	426	1	0	0	0	0	1	0	0	0	8898	768	27	1	910	1	LMOD2	7	123302544	Missense_Mutation	SNP	C	TCGA-S9-A6WE-01A-12D-A33T-08		123302544	35836119	8	34521											
ANKRD30A	91074	broad.mit.edu	37	10	37418878	37418881	+	Frame_Shift_Del	DEL	AGAC	AGAC	-			TCGA-S9-A6WE-01A-12D-A33T-08	TCGA-S9-A6WE-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc116e35-9224-47ce-a37e-a8adbf2b3be5	fdf5aabf-afa2-401d-a368-15b5ad44eb7c	g.chr10:37418878_37418881delAGAC	ENST00000374660.1	+	2	210_213	c.111_114delAGAC	c.(109-114)gtagacfs	p.VD37fs	ANKRD30A_ENST00000361713.1_Frame_Shift_Del_p.VD37fs|ANKRD30A_ENST00000602533.1_Frame_Shift_Del_p.VD37fs			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	93						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						CATTTCTGGTAGACAGAAAGTGCC	0.456													24	59	---	---	---	---						-	37418881	AGAC	-	37418878	7	5	426	1	0	1	0	1	0	0	0	0	654	407	15	0	117	0	ANKRD30A	10	37418878	Frame_Shift_Del	DEL	AGAC	TCGA-S9-A6WE-01A-12D-A33T-08		37418878	98115869	9	34522											
VWCE	220001	broad.mit.edu	37	11	61049329	61049329	+	Frame_Shift_Del	DEL	T	T	-			TCGA-S9-A6WE-01A-12D-A33T-08	TCGA-S9-A6WE-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc116e35-9224-47ce-a37e-a8adbf2b3be5	fdf5aabf-afa2-401d-a368-15b5ad44eb7c	g.chr11:61049329delT	ENST00000335613.5	-	7	1102	c.716delA	c.(715-717)aacfs	p.N239fs		NM_152718.2	NP_689931.2	Q96DN2	VWCE_HUMAN	von Willebrand factor C and EGF domains	239	EGF-like 4; calcium-binding (Potential).					extracellular region	calcium ion binding			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						GCCCACGGTGTTGTGGCAGGA	0.627													52	102	---	---	---	---						-	61049329	T	-	61049329	7	5	426	1	0	1	0	1	0	0	0	0	17305	1725	60	0	2207	0	VWCE	11	61049329	Frame_Shift_Del	DEL	T	TCGA-S9-A6WE-01A-12D-A33T-08		61049329	73957187	10	34523											
PDE2A	5138	broad.mit.edu	37	11	72316192	72316192	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6WE-01A-12D-A33T-08	TCGA-S9-A6WE-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc116e35-9224-47ce-a37e-a8adbf2b3be5	fdf5aabf-afa2-401d-a368-15b5ad44eb7c	g.chr11:72316192C>T	ENST00000334456.5	-	4	558	c.313G>A	c.(313-315)Ggg>Agg	p.G105R	PDE2A_ENST00000540345.1_Missense_Mutation_p.G96R|PDE2A_ENST00000544570.1_Missense_Mutation_p.G98R|PDE2A_ENST00000376450.3_Missense_Mutation_p.G98R|PDE2A_ENST00000540380.1_5'UTR|PDE2A_ENST00000444035.2_Missense_Mutation_p.G96R|PDE2A_ENST00000418754.2_Intron	NM_002599.4	NP_002590.1	O00408	PDE2A_HUMAN	phosphodiesterase 2A, cGMP-stimulated	105					platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity|metal ion binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	36			BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		Sildenafil(DB00203)|Sulindac(DB00605)	CGGACTTTCCCCTCCTGGGGC	0.572													23	46					0	0	1	0	0	T	72316192	C	T	72316192	3	4	426	1	0	0	0	0	1	0	0	0	11683	623	22	2	2624	2	PDE2A	11	72316192	Missense_Mutation	SNP	C	TCGA-S9-A6WE-01A-12D-A33T-08	11266863	72316192	62690324	11	34524											
EXPH5	23086	broad.mit.edu	37	11	108409780	108409780	+	Silent	SNP	A	A	G			TCGA-S9-A6WE-01A-12D-A33T-08	TCGA-S9-A6WE-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc116e35-9224-47ce-a37e-a8adbf2b3be5	fdf5aabf-afa2-401d-a368-15b5ad44eb7c	g.chr11:108409780A>G	ENST00000265843.4	-	3	524	c.414T>C	c.(412-414)acT>acC	p.T138T	EXPH5_ENST00000525344.1_Silent_p.T131T|EXPH5_ENST00000428840.1_Silent_p.T62T	NM_015065.2	NP_055880	Q149M6	Q149M6_HUMAN	exophilin 5	138					intracellular protein transport		Rab GTPase binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		GAAGCTTTGAAGTCTCCTTTC	0.443													84	119					0	0	1	0	0	G	108409780	A	G	108409780	2	3	426	1	0	0	0	0	0	0	0	1	5350	59	3	3		3	EXPH5	11	108409780	Silent	SNP	A	TCGA-S9-A6WE-01A-12D-A33T-08	36093588	108409780	26596736	12	34525											
DNM1L	10059	broad.mit.edu	37	12	32884346	32884346	+	Silent	SNP	G	G	A			TCGA-S9-A6WE-01A-12D-A33T-08	TCGA-S9-A6WE-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc116e35-9224-47ce-a37e-a8adbf2b3be5	fdf5aabf-afa2-401d-a368-15b5ad44eb7c	g.chr12:32884346G>A	ENST00000452533.2	+	11	1421	c.1257G>A	c.(1255-1257)cgG>cgA	p.R419R	DNM1L_ENST00000547312.1_Silent_p.R419R|YARS2_ENST00000551673.1_Intron|DNM1L_ENST00000266481.6_Silent_p.R419R|DNM1L_ENST00000549701.1_Silent_p.R419R|DNM1L_ENST00000381000.4_Silent_p.R432R|DNM1L_ENST00000553257.1_Silent_p.R432R|DNM1L_ENST00000358214.5_Silent_p.R432R|DNM1L_ENST00000414834.2_Silent_p.R216R	NM_012062.3|NM_012063.2	NP_036192.2|NP_036193.2	O00429	DNM1L_HUMAN	dynamin 1-like	419	Middle domain.				cellular component disassembly involved in apoptosis|mitochondrial fragmentation involved in apoptosis|mitochondrial membrane organization|positive regulation of mitochondrial fission	cis-Golgi network|cytosol|endomembrane system|endoplasmic reticulum|mitochondrial outer membrane	GTP binding|GTPase activity|ubiquitin protein ligase binding			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	23	Lung NSC(5;2.15e-06)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					TGGTGAAGCGGCAAATCAAAC	0.418													4	200					0	0	1	0	0	A	32884346	G	A	32884346	2	1	426	1	0	0	0	0	0	0	0	1	4698	1190	42	2		2	DNM1L	12	32884346	Silent	SNP	G	TCGA-S9-A6WE-01A-12D-A33T-08		32884346	100967549	13	34526											
CLIP1	6249	broad.mit.edu	37	12	122817533	122817533	+	Splice_Site	SNP	C	C	T			TCGA-S9-A6WE-01A-12D-A33T-08	TCGA-S9-A6WE-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc116e35-9224-47ce-a37e-a8adbf2b3be5	fdf5aabf-afa2-401d-a368-15b5ad44eb7c	g.chr12:122817533C>T	ENST00000358808.2	-	14	2989		c.e14+1		CLIP1_ENST00000545889.1_Splice_Site|CLIP1_ENST00000361654.4_Splice_Site|CLIP1_ENST00000540338.1_Splice_Site|CLIP1_ENST00000302528.7_Splice_Site|CLIP1_ENST00000537178.1_Splice_Site	NM_001247997.1|NM_002956.2	NP_001234926.1|NP_002947.1	P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1						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)		GTCACATATACCTTTCTTTCA	0.393													27	51					0	0	1	0	0	T	122817533	C	T	122817533	5	4	426	1	0	0	0	0	0	0	1	0	3555	521	18	2	1496	2	CLIP1	12	122817533	Splice_Site	SNP	C	TCGA-S9-A6WE-01A-12D-A33T-08	89933187	122817533	11034362	14	34527											
ZFYVE26	23503	broad.mit.edu	37	14	68274236	68274236	+	Silent	SNP	C	C	T			TCGA-S9-A6WE-01A-12D-A33T-08	TCGA-S9-A6WE-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc116e35-9224-47ce-a37e-a8adbf2b3be5	fdf5aabf-afa2-401d-a368-15b5ad44eb7c	g.chr14:68274236C>T	ENST00000347230.4	-	5	903	c.765G>A	c.(763-765)cgG>cgA	p.R255R	ZFYVE26_ENST00000555452.1_Silent_p.R255R	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	255					cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		GCCGCTCCTCCCGCAGGGGAC	0.622													33	42					0	0	1	0	0	T	68274236	C	T	68274236	2	4	426	1	0	0	0	0	0	0	0	1	17726	610	22	2		2	ZFYVE26	14	68274236	Silent	SNP	C	TCGA-S9-A6WE-01A-12D-A33T-08		68274236	39075304	15	34528											
MSLNL	401827	broad.mit.edu	37	16	830799	830799	+	Missense_Mutation	SNP	T	T	G			TCGA-S9-A6WE-01A-12D-A33T-08	TCGA-S9-A6WE-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc116e35-9224-47ce-a37e-a8adbf2b3be5	fdf5aabf-afa2-401d-a368-15b5ad44eb7c	g.chr16:830799T>G	ENST00000293892.3	-	3	201	c.202A>C	c.(202-204)Acc>Ccc	p.T68P	MSLNL_ENST00000442466.1_Intron			Q96KJ4	MSLNL_HUMAN	mesothelin-like	0					cell adhesion	integral to membrane				breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	36						TGTGCACGGGTAGGTGACAGC	0.592													5	237					0	0	1	0	0	G	830799	T	G	830799	3	3	426	1	0	0	0	0	1	0	0	0	9930	1638	57	5	3015	5	MSLNL	16	830799	Missense_Mutation	SNP	T	TCGA-S9-A6WE-01A-12D-A33T-08		830799	89523954	16	34529											
ATP8B1	5205	broad.mit.edu	37	18	55399014	55399014	+	Missense_Mutation	SNP	G	G	A	rs150268416		TCGA-S9-A6WE-01A-12D-A33T-08	TCGA-S9-A6WE-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc116e35-9224-47ce-a37e-a8adbf2b3be5	fdf5aabf-afa2-401d-a368-15b5ad44eb7c	g.chr18:55399014G>A	ENST00000536015.1	-	2	145	c.26C>T	c.(25-27)aCg>aTg	p.T9M	RP11-35G9.5_ENST00000588925.1_RNA|RP11-35G9.3_ENST00000599199.1_RNA|ATP8B1_ENST00000283684.4_Missense_Mutation_p.T9M	NM_005603.4	NP_005594	O43520	AT8B1_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 1	9					ATP biosynthetic process|bile acid and bile salt transport|negative regulation of transcription, DNA-dependent	apical plasma membrane|integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(19)|ovary(3)|prostate(1)	53		Colorectal(73;0.229)				GTCAAATGTCGTTTCTGAGTC	0.428													6	329					0	0	1	0	0	A	55399014	G	A	55399014	3	1	426	1	0	0	0	0	1	0	0	0	1192	1145	40	1	3837	1	ATP8B1	18	55399014	Missense_Mutation	SNP	G	TCGA-S9-A6WE-01A-12D-A33T-08		55399014	22678234	17	34530											
CIC	23152	broad.mit.edu	37	19	42791718	42791718	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6WE-01A-12D-A33T-08	TCGA-S9-A6WE-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc116e35-9224-47ce-a37e-a8adbf2b3be5	fdf5aabf-afa2-401d-a368-15b5ad44eb7c	g.chr19:42791718C>T	ENST00000572681.2	+	6	3399	c.3331C>T	c.(3331-3333)Cgg>Tgg	p.R1111W	CIC_ENST00000575354.2_Missense_Mutation_p.R202W|CIC_ENST00000160740.3_Missense_Mutation_p.R202W			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	202	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	p.R202W(1)		autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CCACATCCGGCGGCCCATGAA	0.622			"Mis, F, S"		oligodendroglioma								39	28					0	0	1	0	0	T	42791718	C	T	42791718	3	4	426	1	0	0	0	0	1	0	0	0	3446	759	27	1	622	1	CIC	19	42791718	Missense_Mutation	SNP	C	TCGA-S9-A6WE-01A-12D-A33T-08		42791718	16337265	18	34531											
TMX4	56255	broad.mit.edu	37	20	7982176	7982176	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6WE-01A-12D-A33T-08	TCGA-S9-A6WE-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc116e35-9224-47ce-a37e-a8adbf2b3be5	fdf5aabf-afa2-401d-a368-15b5ad44eb7c	g.chr20:7982176C>T	ENST00000246024.2	-	3	520	c.305G>A	c.(304-306)cGc>cAc	p.R102H	TMX4_ENST00000530935.1_5'UTR	NM_021156.2	NP_066979.2	Q9H1E5	TMX4_HUMAN	thioredoxin-related transmembrane protein 4	102	Thioredoxin.				cell redox homeostasis|electron transport chain|transport	integral to membrane				endometrium(3)|large_intestine(2)|lung(11)|skin(1)	17						GACAAAGAAGCGGCCACTCAA	0.323													11	21					0	0	1	0	0	T	7982176	C	T	7982176	3	4	426	1	0	0	0	0	1	0	0	0	16329	768	27	1	768	1	TMX4	20	7982176	Missense_Mutation	SNP	C	TCGA-S9-A6WE-01A-12D-A33T-08		7982176	55043344	19	34532											
FAM47C	442444	broad.mit.edu	37	X	37028425	37028425	+	Missense_Mutation	SNP	A	A	G	rs145580328	byFrequency	TCGA-S9-A6WE-01A-12D-A33T-08	TCGA-S9-A6WE-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc116e35-9224-47ce-a37e-a8adbf2b3be5	fdf5aabf-afa2-401d-a368-15b5ad44eb7c	g.chrX:37028425A>G	ENST00000358047.3	+	1	1994	c.1942A>G	c.(1942-1944)Aat>Gat	p.N648D		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	648								p.N648D(7)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						GGAGCCTCCCAATACTGGAGT	0.642													5	114					0	0	1	0	0	G	37028425	A	G	37028425	3	3	426	1	0	0	0	0	1	0	0	0	5607	130	5	3	1944	3	FAM47C	23	37028425	Missense_Mutation	SNP	A	TCGA-S9-A6WE-01A-12D-A33T-08		37028425	118242135	20	34533											
MYSM1	114803	broad.mit.edu	37	1	59137620	59137620	+	Missense_Mutation	SNP	G	G	T			TCGA-S9-A6WG-01A-11D-A33T-08	TCGA-S9-A6WG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a81ac59e-5603-450b-bd78-4afadd2d4692	0af70b6a-ab25-4bf4-a35d-a8498f87d5da	g.chr1:59137620G>T	ENST00000472487.1	-	12	1622	c.1583C>A	c.(1582-1584)gCt>gAt	p.A528D	MYSM1_ENST00000493821.1_5'UTR	NM_001085487.2	NP_001078956.1	Q5VVJ2	MYSM1_HUMAN	Myb-like, SWIRM and MPN domains 1	528					histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin remodeling complex	DNA binding|histone binding|metal ion binding|metallopeptidase activity|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(7;9.36e-06)					CAACTCCTCAGCAGAGAGATG	0.358													20	71					1.50039e-11	1.76296e-11	1	1	0	T	59137620	G	T	59137620	3	4	427	1	0	0	0	0	1	0	0	0	10149	971	34	4	939	4	MYSM1	1	59137620	Missense_Mutation	SNP	G	TCGA-S9-A6WG-01A-11D-A33T-08		59137620	190113001	1	34534											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-S9-A6WG-01A-11D-A33T-08	TCGA-S9-A6WG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a81ac59e-5603-450b-bd78-4afadd2d4692	0af70b6a-ab25-4bf4-a35d-a8498f87d5da	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								47	116					0	0	1	0	0	T	209113112	C	T	209113112	3	4	427	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-S9-A6WG-01A-11D-A33T-08		209113112	34086261	2	34535											
SPEG	10290	broad.mit.edu	37	2	220342458	220342458	+	Nonsense_Mutation	SNP	C	C	T			TCGA-S9-A6WG-01A-11D-A33T-08	TCGA-S9-A6WG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a81ac59e-5603-450b-bd78-4afadd2d4692	0af70b6a-ab25-4bf4-a35d-a8498f87d5da	g.chr2:220342458C>T	ENST00000312358.7	+	21	4909	c.4777C>T	c.(4777-4779)Cga>Tga	p.R1593*	SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	1593					muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		TGAGGACCATCGAGGAAGGAG	0.607													23	77					0	0	1	0	0	T	220342458	C	T	220342458	4	4	427	1	0	0	0	0	0	1	0	0	15092	876	31	1	4871	1	SPEG	2	220342458	Nonsense_Mutation	SNP	C	TCGA-S9-A6WG-01A-11D-A33T-08	11229346	220342458	22856915	3	34536											
SCN10A	6336	broad.mit.edu	37	3	38743473	38743473	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6WG-01A-11D-A33T-08	TCGA-S9-A6WG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a81ac59e-5603-450b-bd78-4afadd2d4692	0af70b6a-ab25-4bf4-a35d-a8498f87d5da	g.chr3:38743473G>A	ENST00000449082.2	-	26	4513	c.4514C>T	c.(4513-4515)aCg>aTg	p.T1505M		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1505					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	CAGAATTTTCGTCTTTTCTTC	0.453													39	124					0	0	1	0	0	A	38743473	G	A	38743473	3	1	427	1	0	0	0	0	1	0	0	0	13966	1145	40	1	1364	1	SCN10A	3	38743473	Missense_Mutation	SNP	G	TCGA-S9-A6WG-01A-11D-A33T-08		38743473	159278957	4	34537											
DVL3	1857	broad.mit.edu	37	3	183873553	183873555	+	In_Frame_Del	DEL	TTC	TTC	-			TCGA-S9-A6WG-01A-11D-A33T-08	TCGA-S9-A6WG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a81ac59e-5603-450b-bd78-4afadd2d4692	0af70b6a-ab25-4bf4-a35d-a8498f87d5da	g.chr3:183873553_183873555delTTC	ENST00000313143.3	+	1	378_380	c.130_132delTTC	c.(130-132)ttcdel	p.F46del	DVL3_ENST00000462665.1_3'UTR|EIF2B5_ENST00000444495.1_Intron|DVL3_ENST00000431765.1_In_Frame_Del_p.F46del	NM_004423.3	NP_004414.3	Q92997	DVL3_HUMAN	dishevelled segment polarity protein 3	46	DIX.				canonical Wnt receptor signaling pathway|intracellular signal transduction|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent	cytoplasm	beta-catenin binding|frizzled binding|protease binding|protein heterodimerization activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(6)|liver(1)|lung(13)|ovary(1)|prostate(1)	35	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.08e-34)|OV - Ovarian serous cystadenocarcinoma(80;1.31e-22)			CAGCTATAAGTTCTTCTTCAAGT	0.635													7	162	---	---	---	---						-	183873555	TTC	-	183873553	7	5	427	1	0	1	0	1	0	0	0	0	4863	1725	60	0	132	0	DVL3	3	183873553	In_Frame_Del	DEL	TTC	TCGA-S9-A6WG-01A-11D-A33T-08	145130080	183873553	14148877	5	34538											
CPE	1363	broad.mit.edu	37	4	166405649	166405649	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A6WG-01A-11D-A33T-08	TCGA-S9-A6WG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a81ac59e-5603-450b-bd78-4afadd2d4692	0af70b6a-ab25-4bf4-a35d-a8498f87d5da	g.chr4:166405649A>G	ENST00000402744.4	+	5	1146	c.866A>G	c.(865-867)aAc>aGc	p.N289S		NM_001873.2	NP_001864.1	P16870	CBPE_HUMAN	carboxypeptidase E	289					cardiac left ventricle morphogenesis|neuropeptide signaling pathway|protein modification process	extracellular region|nucleus|plasma membrane	metallocarboxypeptidase activity|protein binding|zinc ion binding			endometrium(2)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	26	all_hematologic(180;0.221)	Prostate(90;0.0962)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.137)	Glucagon recombinant(DB00040)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TCTTCTTTCAACCCGGCCATG	0.502													13	474					0	0	1	0	0	G	166405649	A	G	166405649	3	3	427	1	0	0	0	0	1	0	0	0	3822	43	2	3	884	3	CPE	4	166405649	Missense_Mutation	SNP	A	TCGA-S9-A6WG-01A-11D-A33T-08		166405649	24748627	6	34539											
TAF9	6880	broad.mit.edu	37	5	68660800	68660800	+	Silent	SNP	A	A	G			TCGA-S9-A6WG-01A-11D-A33T-08	TCGA-S9-A6WG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a81ac59e-5603-450b-bd78-4afadd2d4692	0af70b6a-ab25-4bf4-a35d-a8498f87d5da	g.chr5:68660800A>G	ENST00000328663.4	-	3	1231	c.765T>C	c.(763-765)gaT>gaC	p.D255D	TAF9_ENST00000217893.5_Silent_p.D255D|TAF9_ENST00000380818.3_Intron|TAF9_ENST00000380822.4_Intron|TAF9_ENST00000506736.1_Silent_p.D255D|TAF9_ENST00000502819.1_Intron|TAF9_ENST00000512561.1_Intron	NM_001015892.1	NP_001015892.1	Q9Y3D8	KAD6_HUMAN	TAF9 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 32kDa	59						Cajal body	adenylate kinase activity|ATP binding|protein binding	p.D255D(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|urinary_tract(1)	8		Lung NSC(167;7.26e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.1e-56)|Epithelial(20;9.54e-53)|all cancers(19;2.2e-48)|Lung(70;0.0176)		catcatcatcatcgtcatcat	0.318													5	248					0	0	1	0	0	G	68660800	A	G	68660800	2	3	427	1	0	0	0	0	0	0	0	1	15592	214	8	3		3	TAF9	5	68660800	Silent	SNP	A	TCGA-S9-A6WG-01A-11D-A33T-08		68660800	112254460	7	34540											
NSD1	64324	broad.mit.edu	37	5	176638954	176638954	+	Missense_Mutation	SNP	G	G	T			TCGA-S9-A6WG-01A-11D-A33T-08	TCGA-S9-A6WG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a81ac59e-5603-450b-bd78-4afadd2d4692	0af70b6a-ab25-4bf4-a35d-a8498f87d5da	g.chr5:176638954G>T	ENST00000439151.2	+	5	3599	c.3554G>T	c.(3553-3555)tGt>tTt	p.C1185F	NSD1_ENST00000361032.4_Missense_Mutation_p.C1082F|NSD1_ENST00000354179.4_Missense_Mutation_p.C916F|NSD1_ENST00000347982.4_Missense_Mutation_p.C916F	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1185					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		AACTCTGAGTGTGCCTTTAGG	0.478			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			4	77					0.150653	0.153929	1	1	0	T	176638954	G	T	176638954	3	4	427	1	0	0	0	0	1	0	0	0	10717	1377	48	5	3568	5	NSD1	5	176638954	Missense_Mutation	SNP	G	TCGA-S9-A6WG-01A-11D-A33T-08	107978154	176638954	4276306	8	34541											
COL19A1	1310	broad.mit.edu	37	6	70639416	70639416	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6WG-01A-11D-A33T-08	TCGA-S9-A6WG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a81ac59e-5603-450b-bd78-4afadd2d4692	0af70b6a-ab25-4bf4-a35d-a8498f87d5da	g.chr6:70639416C>T	ENST00000322773.4	+	6	592	c.490C>T	c.(490-492)Cgt>Tgt	p.R164C		NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	164	TSP N-terminal.				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						TCGAGAACTCCGTCCTTTGTT	0.393													18	112					0	0	1	0	0	T	70639416	C	T	70639416	3	4	427	1	0	0	0	0	1	0	0	0	3699	652	23	1	508	1	COL19A1	6	70639416	Missense_Mutation	SNP	C	TCGA-S9-A6WG-01A-11D-A33T-08		70639416	100475651	9	34542											
ENPP1	5167	broad.mit.edu	37	6	132176133	132176133	+	Missense_Mutation	SNP	G	G	A	rs147798392		TCGA-S9-A6WG-01A-11D-A33T-08	TCGA-S9-A6WG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a81ac59e-5603-450b-bd78-4afadd2d4692	0af70b6a-ab25-4bf4-a35d-a8498f87d5da	g.chr6:132176133G>A	ENST00000360971.2	+	6	705	c.685G>A	c.(685-687)Ggt>Agt	p.G229S		NM_006208.2	NP_006199.2	P22413	ENPP1_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 1	229	Phosphodiesterase.				3'-phosphoadenosine 5'-phosphosulfate metabolic process|biomineral tissue development|cellular phosphate ion homeostasis|cellular response to insulin stimulus|generation of precursor metabolites and energy|immune response|inorganic diphosphate transport|negative regulation of cell growth|negative regulation of fat cell differentiation|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of protein autophosphorylation|nucleoside triphosphate catabolic process|phosphate metabolic process|sequestering of triglyceride|water-soluble vitamin metabolic process	basolateral plasma membrane|cell surface|extracellular space|integral to membrane	ATP binding|insulin receptor binding|metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|protein homodimerization activity|scavenger receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(22)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	46	Breast(56;0.0505)			GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	Amifostine(DB01143)|Ribavirin(DB00811)	ACACACTTGGGGTGGACTTCT	0.383													10	179					0	0	1	0	0	A	132176133	G	A	132176133	3	1	427	1	0	0	0	0	1	0	0	0	5157	1232	43	2	707	2	ENPP1	6	132176133	Missense_Mutation	SNP	G	TCGA-S9-A6WG-01A-11D-A33T-08	61536717	132176133	38938934	10	34543											
HOXA11	3207	broad.mit.edu	37	7	27224643	27224643	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6WG-01A-11D-A33T-08	TCGA-S9-A6WG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a81ac59e-5603-450b-bd78-4afadd2d4692	0af70b6a-ab25-4bf4-a35d-a8498f87d5da	g.chr7:27224643G>A	ENST00000006015.3	-	1	192	c.121C>T	c.(121-123)Cgc>Tgc	p.R41C	HOXA11-AS_ENST00000522863.1_RNA|HOXA11-AS_ENST00000520360.1_RNA	NM_005523.5	NP_005514.1	P31270	HXA11_HUMAN	homeobox A11	41					branching involved in ureteric bud morphogenesis|cartilage development involved in endochondral bone morphogenesis|developmental growth|dorsal/ventral pattern formation|mesodermal cell fate specification|positive regulation of cell development|positive regulation of chondrocyte differentiation	protein-DNA complex|transcription factor complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	16						GTCATTGGGCGCGAAGACGGG	0.552			T	NUP98	CML						OREG0003747	type=REGULATORY REGION|Gene=BC025338|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	40	215					0	0	1	0	0	A	27224643	G	A	27224643	3	1	427	1	0	0	0	0	1	0	0	0	7331	1087	38	1	828	1	HOXA11	7	27224643	Missense_Mutation	SNP	G	TCGA-S9-A6WG-01A-11D-A33T-08		27224643	131914020	11	34544											
KIAA1161	57462	broad.mit.edu	37	9	34371189	34371189	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6WG-01A-11D-A33T-08	TCGA-S9-A6WG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a81ac59e-5603-450b-bd78-4afadd2d4692	0af70b6a-ab25-4bf4-a35d-a8498f87d5da	g.chr9:34371189G>A	ENST00000297625.7	-	2	1876	c.1651C>T	c.(1651-1653)Ccg>Tcg	p.P551S		NM_020702.3	NP_065753.2	Q6NSJ0	K1161_HUMAN	KIAA1161	585					carbohydrate metabolic process	integral to membrane	hydrolase activity, hydrolyzing O-glycosyl compounds			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.126)		TGCATGGCCGGCATAAAGGCG	0.687													3	26					0	0	1	0	0	A	34371189	G	A	34371189	3	1	427	1	0	0	0	0	1	0	0	0	8253	1203	42	2	395	2	KIAA1161	9	34371189	Missense_Mutation	SNP	G	TCGA-S9-A6WG-01A-11D-A33T-08		34371189	106842242	12	34545											
TMC1	117531	broad.mit.edu	37	9	75355081	75355081	+	Nonsense_Mutation	SNP	G	G	T			TCGA-S9-A6WG-01A-11D-A33T-08	TCGA-S9-A6WG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a81ac59e-5603-450b-bd78-4afadd2d4692	0af70b6a-ab25-4bf4-a35d-a8498f87d5da	g.chr9:75355081G>T	ENST00000297784.5	+	9	949	c.409G>T	c.(409-411)Gga>Tga	p.G137*	TMC1_ENST00000340019.3_Nonsense_Mutation_p.G137*|TMC1_ENST00000396237.3_Nonsense_Mutation_p.G137*	NM_138691.2	NP_619636.2	Q8TDI8	TMC1_HUMAN	transmembrane channel-like 1	137	Arg/Asp/Glu/Lys-rich (highly charged).				sensory perception of sound	integral to membrane				NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(21)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	36						TCTTGGGAAAGGAAAAGGAAA	0.378													14	107					1.15088e-07	1.28789e-07	1	1	0	T	75355081	G	T	75355081	4	4	427	1	0	0	0	0	0	1	0	0	16044	1001	35	4	427	4	TMC1	9	75355081	Nonsense_Mutation	SNP	G	TCGA-S9-A6WG-01A-11D-A33T-08	40983892	75355081	65858350	13	34546											
ZBTB6	10773	broad.mit.edu	37	9	125674072	125674072	+	Nonsense_Mutation	SNP	C	C	A			TCGA-S9-A6WG-01A-11D-A33T-08	TCGA-S9-A6WG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a81ac59e-5603-450b-bd78-4afadd2d4692	0af70b6a-ab25-4bf4-a35d-a8498f87d5da	g.chr9:125674072C>A	ENST00000373659.3	-	2	368	c.280G>T	c.(280-282)Gaa>Taa	p.E94*		NM_006626.5	NP_006617.1	Q15916	ZBTB6_HUMAN	zinc finger and BTB domain containing 6	94	BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(1)|skin(1)	11						CTTTTAACTTCAAGTGCTCCA	0.388													5	216					2.0095e-06	2.14651e-06	1	1	0	A	125674072	C	A	125674072	4	1	427	1	0	0	0	0	0	1	0	0	17611	835	29	5	998	5	ZBTB6	9	125674072	Nonsense_Mutation	SNP	C	TCGA-S9-A6WG-01A-11D-A33T-08	50318991	125674072	15539359	14	34547											
FAM111A	63901	broad.mit.edu	37	11	58920410	58920410	+	Missense_Mutation	SNP	C	C	A			TCGA-S9-A6WG-01A-11D-A33T-08	TCGA-S9-A6WG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a81ac59e-5603-450b-bd78-4afadd2d4692	0af70b6a-ab25-4bf4-a35d-a8498f87d5da	g.chr11:58920410C>A	ENST00000528737.1	+	5	4087	c.1269C>A	c.(1267-1269)aaC>aaA	p.N423K	FAM111A_ENST00000420244.1_Missense_Mutation_p.N423K|FAM111A_ENST00000533703.1_Missense_Mutation_p.N423K|FAM111A_ENST00000531147.1_Missense_Mutation_p.N423K|FAM111A_ENST00000361723.3_Missense_Mutation_p.N423K			Q96PZ2	F111A_HUMAN	family with sequence similarity 111, member A	423					proteolysis		serine-type endopeptidase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_epithelial(135;0.139)				AGGAAACAAACTACTTTTTTG	0.388													4	161					0.150653	0.153929	1	1	0	A	58920410	C	A	58920410	3	1	427	1	0	0	0	0	1	0	0	0	5430	564	20	4	1275	4	FAM111A	11	58920410	Missense_Mutation	SNP	C	TCGA-S9-A6WG-01A-11D-A33T-08		58920410	76086106	15	34548											
KIF5A	3798	broad.mit.edu	37	12	57944094	57944094	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A6WG-01A-11D-A33T-08	TCGA-S9-A6WG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a81ac59e-5603-450b-bd78-4afadd2d4692	0af70b6a-ab25-4bf4-a35d-a8498f87d5da	g.chr12:57944094T>C	ENST00000455537.2	+	1	314	c.40T>C	c.(40-42)Tgc>Cgc	p.C14R	KIF5A_ENST00000286452.5_Missense_Mutation_p.C14R	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN	kinesin family member 5A	14	Kinesin-motor.				blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						CAAGGTGCTCTGCCGATTCCG	0.597													5	127					0	0	1	0	0	C	57944094	T	C	57944094	3	2	427	1	0	0	0	0	1	0	0	0	8347	1580	55	3	42	3	KIF5A	12	57944094	Missense_Mutation	SNP	T	TCGA-S9-A6WG-01A-11D-A33T-08		57944094	75907801	16	34549											
GOLGA3	2802	broad.mit.edu	37	12	133353247	133353247	+	Silent	SNP	T	T	C			TCGA-S9-A6WG-01A-11D-A33T-08	TCGA-S9-A6WG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a81ac59e-5603-450b-bd78-4afadd2d4692	0af70b6a-ab25-4bf4-a35d-a8498f87d5da	g.chr12:133353247T>C	ENST00000204726.3	-	21	4509	c.3951A>G	c.(3949-3951)gaA>gaG	p.E1317E	GOLGA3_ENST00000450791.2_Silent_p.E1317E|GOLGA3_ENST00000456883.2_Silent_p.E1317E	NM_005895.3	NP_005886.2	Q08378	GOGA3_HUMAN	golgin A3	1317	Gln-rich.				intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity			breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		GCCCTTCCAGTTCCTTCCTGC	0.567													4	162					0	0	1	0	0	C	133353247	T	C	133353247	2	2	427	1	0	0	0	0	0	0	0	1	6596	1722	60	3		3	GOLGA3	12	133353247	Silent	SNP	T	TCGA-S9-A6WG-01A-11D-A33T-08	75409153	133353247	498648	17	34550											
AKAP11	11215	broad.mit.edu	37	13	42876142	42876142	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A6WG-01A-11D-A33T-08	TCGA-S9-A6WG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a81ac59e-5603-450b-bd78-4afadd2d4692	0af70b6a-ab25-4bf4-a35d-a8498f87d5da	g.chr13:42876142A>G	ENST00000025301.2	+	8	3435	c.3260A>G	c.(3259-3261)gAt>gGt	p.D1087G		NM_016248.3	NP_057332.1	Q9UKA4	AKA11_HUMAN	A kinase (PRKA) anchor protein 11	1087					intracellular protein kinase cascade	microtubule organizing center	protein kinase A binding|protein phosphatase 1 binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2)	56		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)		CATGTGGAAGATAAACAGAAA	0.423													17	149					0	0	1	0	0	G	42876142	A	G	42876142	3	3	427	1	0	0	0	0	1	0	0	0	444	333	12	3	3282	3	AKAP11	13	42876142	Missense_Mutation	SNP	A	TCGA-S9-A6WG-01A-11D-A33T-08		42876142	72293736	18	34551											
NQO1	1728	broad.mit.edu	37	16	69746992	69746992	+	Missense_Mutation	SNP	C	C	G			TCGA-S9-A6WG-01A-11D-A33T-08	TCGA-S9-A6WG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a81ac59e-5603-450b-bd78-4afadd2d4692	0af70b6a-ab25-4bf4-a35d-a8498f87d5da	g.chr16:69746992C>G	ENST00000320623.5	-	5	969	c.458G>C	c.(457-459)gGc>gCc	p.G153A	NQO1_ENST00000564043.1_Missense_Mutation_p.G132A|NQO1_ENST00000379046.2_Missense_Mutation_p.G115A|NQO1_ENST00000379047.3_Intron|NQO1_ENST00000439109.2_Intron|NQO1_ENST00000561500.1_Missense_Mutation_p.G115A	NM_000903.2	NP_000894.1	P15559	NQO1_HUMAN	NAD(P)H dehydrogenase, quinone 1	153					nitric oxide biosynthetic process|regulation of cellular amino acid metabolic process|response to toxin|synaptic transmission, cholinergic|xenobiotic metabolic process	cytosol	coenzyme binding|cytochrome-b5 reductase activity|electron carrier activity|NAD(P)H dehydrogenase (quinone) activity			autonomic_ganglia(1)|large_intestine(2)|lung(5)|prostate(1)|stomach(1)	10					Dicumarol(DB00266)|Menadione(DB00170)	GTACATGGAGCCACTGCCACC	0.438													4	241					0	0	1	0	0	G	69746992	C	G	69746992	3	3	427	1	0	0	0	0	1	0	0	0	10659	739	26	5	374	5	NQO1	16	69746992	Missense_Mutation	SNP	C	TCGA-S9-A6WG-01A-11D-A33T-08		69746992	20607761	19	34552											
SPNS3	201305	broad.mit.edu	37	17	4352554	4352554	+	Silent	SNP	C	C	T			TCGA-S9-A6WG-01A-11D-A33T-08	TCGA-S9-A6WG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a81ac59e-5603-450b-bd78-4afadd2d4692	0af70b6a-ab25-4bf4-a35d-a8498f87d5da	g.chr17:4352554C>T	ENST00000355530.2	+	7	1075	c.795C>T	c.(793-795)ctC>ctT	p.L265L	SPNS3_ENST00000576069.1_Intron|SPNS3_ENST00000333476.2_Silent_p.L138L	NM_182538.4	NP_872344.3	Q6ZMD2	SPNS3_HUMAN	spinster homolog 3 (Drosophila)	265					lipid transport|transmembrane transport	integral to membrane				NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(6)|stomach(2)	28						GGTCGACCCTCGGAGTGACCG	0.657													61	157					0	0	1	0	0	T	4352554	C	T	4352554	2	4	427	1	0	0	0	0	0	0	0	1	15132	871	31	1		1	SPNS3	17	4352554	Silent	SNP	C	TCGA-S9-A6WG-01A-11D-A33T-08		4352554	76842656	20	34553											
TP53	7157	broad.mit.edu	37	17	7576855	7576855	+	Nonsense_Mutation	SNP	G	G	A			TCGA-S9-A6WG-01A-11D-A33T-08	TCGA-S9-A6WG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a81ac59e-5603-450b-bd78-4afadd2d4692	0af70b6a-ab25-4bf4-a35d-a8498f87d5da	g.chr17:7576855G>A	ENST00000420246.2	-	9	1123	c.991C>T	c.(991-993)Cag>Tag	p.Q331*	TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Nonsense_Mutation_p.Q331*|TP53_ENST00000455263.2_Nonsense_Mutation_p.Q331*|TP53_ENST00000269305.4_Nonsense_Mutation_p.Q331*|TP53_ENST00000359597.4_Nonsense_Mutation_p.Q331*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	331	Interaction with CARM1.|Interaction with HIPK1 (By similarity).|Interaction with HIPK2.|Oligomerization.		Q -> H (in sporadic cancers; somatic mutation).|Q -> P (in sporadic cancers; somatic mutation).|Q -> R (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.Q331*(23)|p.0?(8)|p.Q331fs*6(2)|p.?(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)		CTTAGTACCTGAAGGGTGAAA	0.448		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			28	93					0	0	1	0	0	A	7576855	G	A	7576855	4	1	427	1	0	0	0	0	0	1	0	0	16442	1299	45	2	291	2	TP53	17	7576855	Nonsense_Mutation	SNP	G	TCGA-S9-A6WG-01A-11D-A33T-08	3224301	7576855	73618355	21	34554											
TP53	7157	broad.mit.edu	37	17	7578388	7578388	+	Missense_Mutation	SNP	C	C	T	rs138525931	by1000genomes	TCGA-S9-A6WG-01A-11D-A33T-08	TCGA-S9-A6WG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a81ac59e-5603-450b-bd78-4afadd2d4692	0af70b6a-ab25-4bf4-a35d-a8498f87d5da	g.chr17:7578388C>T	ENST00000420246.2	-	5	674	c.542G>A	c.(541-543)cGc>cAc	p.R181H	TP53_ENST00000413465.2_Missense_Mutation_p.R181H|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000445888.2_Missense_Mutation_p.R181H|TP53_ENST00000455263.2_Missense_Mutation_p.R181H|TP53_ENST00000269305.4_Missense_Mutation_p.R181H|TP53_ENST00000359597.4_Missense_Mutation_p.R181H	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	181	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> 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.R181H(21)|p.R181P(14)|p.P177_C182delPHHERC(8)|p.0?(8)|p.R181L(3)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H178_S183delHHERCS(3)|p.P177fs*3(2)|p.V173fs*59(2)|p.R49P(1)|p.C176fs*65(1)|p.R181C(1)|p.V173fs*23(1)|p.R181>XXXXXXX(1)|p.R88P(1)|p.R81fs*24(1)|p.H46_S51delHHERCS(1)|p.R42fs*24(1)|p.H85_S90delHHERCS(1)|p.E180_S183del(1)|p.R174fs*3(1)|p.E171fs*61(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)		ATCTGAGCAGCGCTCATGGTG	0.637		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			28	75					0	0	1	0	0	T	7578388	C	T	7578388	3	4	427	1	0	0	0	0	1	0	0	0	16442	768	27	1	756	1	TP53	17	7578388	Missense_Mutation	SNP	C	TCGA-S9-A6WG-01A-11D-A33T-08	1533	7578388	73616822	22	34555											
HEXIM2	124790	broad.mit.edu	37	17	43246712	43246712	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6WG-01A-11D-A33T-08	TCGA-S9-A6WG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a81ac59e-5603-450b-bd78-4afadd2d4692	0af70b6a-ab25-4bf4-a35d-a8498f87d5da	g.chr17:43246712G>A	ENST00000307275.3	+	4	833	c.397G>A	c.(397-399)Gcc>Acc	p.A133T	HEXIM2_ENST00000591576.1_Missense_Mutation_p.A133T|RP13-890H12.2_ENST00000589796.1_RNA|HEXIM2_ENST00000592695.1_Missense_Mutation_p.A133T	NM_144608.1	NP_653209.1	Q96MH2	HEXI2_HUMAN	hexamethylene bis-acetamide inducible 2	133					negative regulation of cyclin-dependent protein kinase activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	cyclin-dependent protein kinase inhibitor activity|protein binding|snRNA binding			endometrium(1)|large_intestine(3)|lung(1)	5						AGAGATGTTCGCCAAAGGCCA	0.627													15	83					0	0	1	0	0	A	43246712	G	A	43246712	3	1	427	1	0	0	0	0	1	0	0	0	7118	1087	38	1	403	1	HEXIM2	17	43246712	Missense_Mutation	SNP	G	TCGA-S9-A6WG-01A-11D-A33T-08	35668324	43246712	37948498	23	34556											
CYP4F22	126410	broad.mit.edu	37	19	15648180	15648180	+	Missense_Mutation	SNP	G	G	A	rs146689227		TCGA-S9-A6WG-01A-11D-A33T-08	TCGA-S9-A6WG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a81ac59e-5603-450b-bd78-4afadd2d4692	0af70b6a-ab25-4bf4-a35d-a8498f87d5da	g.chr19:15648180G>A	ENST00000269703.3	+	5	575	c.376G>A	c.(376-378)Gcc>Acc	p.A126T	CYP4F22_ENST00000601005.2_Missense_Mutation_p.A126T	NM_173483.3	NP_775754.2	Q6NT55	CP4FN_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 22							endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen			endometrium(6)|large_intestine(9)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	37						AGCTGCCATCGCCCCCAAGGA	0.507													37	110					0	0	1	0	0	A	15648180	G	A	15648180	3	1	427	1	0	0	0	0	1	0	0	0	4212	1087	38	1	386	1	CYP4F22	19	15648180	Missense_Mutation	SNP	G	TCGA-S9-A6WG-01A-11D-A33T-08		15648180	43480803	24	34557											
ATF5	22809	broad.mit.edu	37	19	50436053	50436053	+	Missense_Mutation	SNP	C	C	A			TCGA-S9-A6WG-01A-11D-A33T-08	TCGA-S9-A6WG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a81ac59e-5603-450b-bd78-4afadd2d4692	0af70b6a-ab25-4bf4-a35d-a8498f87d5da	g.chr19:50436053C>A	ENST00000423777.2	+	3	930	c.553C>A	c.(553-555)Cag>Aag	p.Q185K	ATF5_ENST00000595125.1_Missense_Mutation_p.Q185K|CTC-326K19.6_ENST00000451973.1_Intron	NM_001193646.1	NP_001180575.1	Q9Y2D1	ATF5_HUMAN	activating transcription factor 5	185	Interaction with PTP4A1 (By similarity).				regulation of transcription from RNA polymerase II promoter	cytoplasm	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			NS(1)|endometrium(2)|large_intestine(1)|skin(3)	7		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00221)|OV - Ovarian serous cystadenocarcinoma(262;0.017)		CCCGCCACAGCAGCCCCCTCC	0.647													3	22					1	1	1	1	0	A	50436053	C	A	50436053	3	1	427	1	0	0	0	0	1	0	0	0	1082	711	25	5	559	5	ATF5	19	50436053	Missense_Mutation	SNP	C	TCGA-S9-A6WG-01A-11D-A33T-08	34787873	50436053	8692930	25	34558											
ZNF677	342926	broad.mit.edu	37	19	53747061	53747061	+	Silent	SNP	G	G	A	rs147481361		TCGA-S9-A6WG-01A-11D-A33T-08	TCGA-S9-A6WG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a81ac59e-5603-450b-bd78-4afadd2d4692	0af70b6a-ab25-4bf4-a35d-a8498f87d5da	g.chr19:53747061G>A	ENST00000333952.4	-	4	270	c.105C>T	c.(103-105)gaC>gaT	p.D35D	ZNF677_ENST00000594681.1_Silent_p.D35D|ZNF677_ENST00000601828.1_Silent_p.D35D|ZNF677_ENST00000598513.1_Silent_p.D35D|ZNF677_ENST00000599012.1_Silent_p.D35D|ZNF677_ENST00000598806.1_Silent_p.D35D|ZNF677_ENST00000601413.1_Silent_p.D35D			Q86XU0	ZN677_HUMAN	zinc finger protein 677	35	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(13)|lung(6)|ovary(1)|pancreas(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				GBM - Glioblastoma multiforme(134;0.00352)		CCAACATCACGTCCCTGTACA	0.468													46	122					0	0	1	0	0	A	53747061	G	A	53747061	2	1	427	1	0	0	0	0	0	0	0	1	18141	1136	40	1		1	ZNF677	19	53747061	Silent	SNP	G	TCGA-S9-A6WG-01A-11D-A33T-08	3311008	53747061	5381922	26	34559											
RAE1	8480	broad.mit.edu	37	20	55948583	55948583	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6WG-01A-11D-A33T-08	TCGA-S9-A6WG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a81ac59e-5603-450b-bd78-4afadd2d4692	0af70b6a-ab25-4bf4-a35d-a8498f87d5da	g.chr20:55948583C>T	ENST00000395841.2	+	9	1115	c.695C>T	c.(694-696)gCc>gTc	p.A232V	RAE1_ENST00000527947.1_Missense_Mutation_p.A232V|RAE1_ENST00000395840.2_Missense_Mutation_p.A232V|RAE1_ENST00000371242.2_Missense_Mutation_p.A232V	NM_003610.3	NP_003601.1	P78406	RAE1L_HUMAN	ribonucleic acid export 1	232					carbohydrate metabolic process|glucose transport|mRNA export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|cytoskeleton|nuclear outer membrane|nuclear pore	microtubule binding|RNA binding	p.A232V(1)		breast(1)|endometrium(5)|large_intestine(4)|lung(6)|prostate(3)|skin(2)	21	Lung NSC(12;0.00263)|all_lung(29;0.00828)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;3.7e-14)|Epithelial(14;1.07e-09)|all cancers(14;1.11e-08)			ACTGGTTTTGCCCTGGGAAGT	0.398													4	164					0	0	1	0	0	T	55948583	C	T	55948583	3	4	427	1	0	0	0	0	1	0	0	0	13050	739	26	2	725	2	RAE1	20	55948583	Missense_Mutation	SNP	C	TCGA-S9-A6WG-01A-11D-A33T-08		55948583	7076937	27	34560											
ZNF831	128611	broad.mit.edu	37	20	57768604	57768604	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6WG-01A-11D-A33T-08	TCGA-S9-A6WG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a81ac59e-5603-450b-bd78-4afadd2d4692	0af70b6a-ab25-4bf4-a35d-a8498f87d5da	g.chr20:57768604C>T	ENST00000371030.2	+	1	2530	c.2530C>T	c.(2530-2532)Cca>Tca	p.P844S		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	844						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					CGCAGAGACCCCAGGTGGGCC	0.642													4	80					0	0	1	0	0	T	57768604	C	T	57768604	3	4	427	1	0	0	0	0	1	0	0	0	18232	623	22	2	2532	2	ZNF831	20	57768604	Missense_Mutation	SNP	C	TCGA-S9-A6WG-01A-11D-A33T-08	1820021	57768604	5256916	28	34561											
CDH4	1002	broad.mit.edu	37	20	60499460	60499460	+	Missense_Mutation	SNP	C	C	T	rs1051676		TCGA-S9-A6WG-01A-11D-A33T-08	TCGA-S9-A6WG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a81ac59e-5603-450b-bd78-4afadd2d4692	0af70b6a-ab25-4bf4-a35d-a8498f87d5da	g.chr20:60499460C>T	ENST00000360469.5	+	11	1785	c.1697C>T	c.(1696-1698)gCg>gTg	p.A566V	CDH4_ENST00000543233.1_Missense_Mutation_p.A492V	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	566	Cadherin 4.			A -> V (in Ref. 1; AAA35627 and 4; no nucleotide entry).	adherens junction organization|cell junction assembly		calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			ATCACCACGGCGGCAGTGCTG	0.612													12	102					0	0	1	0	0	T	60499460	C	T	60499460	3	4	427	1	0	0	0	0	1	0	0	0	3134	768	27	1	1739	1	CDH4	20	60499460	Missense_Mutation	SNP	C	TCGA-S9-A6WG-01A-11D-A33T-08	2730856	60499460	2526060	29	34562											
APOBEC3C	27350	broad.mit.edu	37	22	39414020	39414020	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6WG-01A-11D-A33T-08	TCGA-S9-A6WG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a81ac59e-5603-450b-bd78-4afadd2d4692	0af70b6a-ab25-4bf4-a35d-a8498f87d5da	g.chr22:39414020G>A	ENST00000361441.4	+	3	704	c.424G>A	c.(424-426)Ggg>Agg	p.G142R	APOBEC3D_ENST00000381568.4_Intron	NM_014508.2	NP_055323.2	Q9NRW3	ABC3C_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3C						DNA demethylation|interspecies interaction between organisms|negative regulation of transposition		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|protein binding|zinc ion binding			endometrium(1)|large_intestine(3)|lung(1)|skin(1)	6	Melanoma(58;0.04)					GAGTCAGGAAGGGGTCGCTGT	0.592													4	289					0	0	1	0	0	A	39414020	G	A	39414020	3	1	427	1	0	0	0	0	1	0	0	0	788	1000	35	2	434	2	APOBEC3C	22	39414020	Missense_Mutation	SNP	G	TCGA-S9-A6WG-01A-11D-A33T-08		39414020	11890546	30	34563											
ATRX	546	broad.mit.edu	37	X	76875920	76875920	+	Nonsense_Mutation	SNP	G	G	A			TCGA-S9-A6WG-01A-11D-A33T-08	TCGA-S9-A6WG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a81ac59e-5603-450b-bd78-4afadd2d4692	0af70b6a-ab25-4bf4-a35d-a8498f87d5da	g.chrX:76875920G>A	ENST00000373344.5	-	20	5429	c.5215C>T	c.(5215-5217)Cga>Tga	p.R1739*	ATRX_ENST00000395603.3_Nonsense_Mutation_p.R1701*|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1739	Helicase ATP-binding.				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.R1739*(1)|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)	CTCCTTGATCGTATAGAATTC	0.323			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						51	43					0	0	1	0	0	A	76875920	G	A	76875920	4	1	427	1	0	0	0	0	0	1	0	0	1206	1153	40	1	2327	1	ATRX	23	76875920	Nonsense_Mutation	SNP	G	TCGA-S9-A6WG-01A-11D-A33T-08		76875920	78394640	31	34564											
IRS4	8471	broad.mit.edu	37	X	107977802	107977803	+	Frame_Shift_Ins	INS	-	-	C			TCGA-S9-A6WG-01A-11D-A33T-08	TCGA-S9-A6WG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a81ac59e-5603-450b-bd78-4afadd2d4692	0af70b6a-ab25-4bf4-a35d-a8498f87d5da	g.chrX:107977802_107977803insC	ENST00000372129.2	-	1	1848_1849	c.1772_1773insG	c.(1771-1773)ggcfs	p.G591fs		NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	591						plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						CTGAGCCTTTGCCCCCCCCAGA	0.545													8	315	---	---	---	---						C	107977803	-	C	107977802	7	5	427	1	0	1	1	0	0	0	0	0	7886	1306	46	0	2004	0	IRS4	23	107977802	Frame_Shift_Ins	INS	-	TCGA-S9-A6WG-01A-11D-A33T-08	31101882	107977802	47292758	32	34565											
FMR1	2332	broad.mit.edu	37	X	147014240	147014240	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6WG-01A-11D-A33T-08	TCGA-S9-A6WG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a81ac59e-5603-450b-bd78-4afadd2d4692	0af70b6a-ab25-4bf4-a35d-a8498f87d5da	g.chrX:147014240G>A	ENST00000218200.8	+	9	1067	c.838G>A	c.(838-840)Gaa>Aaa	p.E280K	FMR1_ENST00000439526.2_Missense_Mutation_p.E280K|FMR1_ENST00000370470.1_Missense_Mutation_p.E280K|FMR1_ENST00000370477.1_Missense_Mutation_p.E280K|FMR1_ENST00000370475.4_Missense_Mutation_p.E280K|FMR1_ENST00000334557.6_Missense_Mutation_p.E280K|FMR1_ENST00000370471.3_Missense_Mutation_p.E280K|FMR1_ENST00000440235.2_5'UTR	NM_001185076.1|NM_001185082.1	NP_001172005.1|NP_001172011.1	Q06787	FMR1_HUMAN	fragile X mental retardation 1	280					mRNA transport|negative regulation of translational initiation	cytoplasm|mRNA cap binding complex|nucleolus|nucleoplasm|soluble fraction	mRNA binding|protein binding			NS(1)|breast(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	35	Acute lymphoblastic leukemia(192;6.56e-05)					AAGCTTTCTCGAATTTGCTGA	0.343									Fragile X syndrome				6	107					0	0	1	0	0	A	147014240	G	A	147014240	3	1	427	1	0	0	0	0	1	0	0	0	5993	1059	37	1	872	1	FMR1	23	147014240	Missense_Mutation	SNP	G	TCGA-S9-A6WG-01A-11D-A33T-08	39036438	147014240	8256320	33	34566											
L1CAM	3897	broad.mit.edu	37	X	153133891	153133891	+	Silent	SNP	C	C	T			TCGA-S9-A6WG-01A-11D-A33T-08	TCGA-S9-A6WG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a81ac59e-5603-450b-bd78-4afadd2d4692	0af70b6a-ab25-4bf4-a35d-a8498f87d5da	g.chrX:153133891C>T	ENST00000370060.1	-	14	1758	c.1569G>A	c.(1567-1569)ggG>ggA	p.G523G	L1CAM_ENST00000361981.3_Silent_p.G518G|L1CAM_ENST00000370057.3_Silent_p.G523G|L1CAM_ENST00000370055.1_Silent_p.G518G|L1CAM_ENST00000538883.1_Silent_p.G525G|L1CAM_ENST00000361699.4_Silent_p.G523G|L1CAM_ENST00000543994.1_Silent_p.G525G	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	523	Ig-like C2-type 6.				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane				NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TGCTGCGGGGCCCCTGAGTGA	0.617													60	146					0	0	1	0	0	T	153133891	C	T	153133891	2	4	427	1	0	0	0	0	0	0	0	1	8627	726	26	2		2	L1CAM	23	153133891	Silent	SNP	C	TCGA-S9-A6WG-01A-11D-A33T-08	6119651	153133891	2136669	34	34567											
PLCH2	9651	broad.mit.edu	37	1	2436221	2436221	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr1:2436221C>T	ENST00000378486.3	+	22	4094	c.3820C>T	c.(3820-3822)Cgc>Tgc	p.R1274C	PLCH2_ENST00000419816.2_Missense_Mutation_p.R1274C|PLCH2_ENST00000378488.3_Missense_Mutation_p.R1238C|PLCH2_ENST00000449969.1_3'UTR	NM_014638.2	NP_055453.2	O75038	PLCH2_HUMAN	phospholipase C, eta 2	1274					intracellular signal transduction|lipid catabolic process	cytoplasm|plasma membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(3)|skin(1)	20	all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2)		GGGCGGCTCCCGCAGACTGAG	0.687													13	22					0	0	1	0	0	T	2436221	C	T	2436221	3	4	428	1	0	0	0	0	1	0	0	0	12086	652	23	1	3906	1	PLCH2	1	2436221	Missense_Mutation	SNP	C	TCGA-S9-A6WH-01A-12D-A33T-08		2436221	246814400	1	34568											
TMEM201	199953	broad.mit.edu	37	1	9661304	9661304	+	Silent	SNP	C	C	T			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr1:9661304C>T	ENST00000340305.5	+	5	757	c.748C>T	c.(748-750)Ctg>Ttg	p.L250L	TMEM201_ENST00000377376.4_Silent_p.L250L|TMEM201_ENST00000340381.6_Silent_p.L250L	NM_001010866.3	NP_001010866.1	Q5SNT2	TM201_HUMAN	transmembrane protein 201	250						integral to membrane|nuclear inner membrane				lung(3)|upper_aerodigestive_tract(1)	4	all_lung(157;0.222)	all_epithelial(116;2.09e-14)|Renal(390;0.000469)|all_lung(118;0.000521)|Lung NSC(185;0.000744)|Colorectal(325;0.0062)|Breast(348;0.0157)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.5e-08)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|STAD - Stomach adenocarcinoma(132;0.00345)|READ - Rectum adenocarcinoma(331;0.0419)		GCCCCTGGCCCTGCCACCTGG	0.697													12	26					0	0	1	0	0	T	9661304	C	T	9661304	2	4	428	1	0	0	0	0	0	0	0	1	16186	680	24	2		2	TMEM201	1	9661304	Silent	SNP	C	TCGA-S9-A6WH-01A-12D-A33T-08	7225083	9661304	239589317	2	34569											
NMNAT1	64802	broad.mit.edu	37	1	10042595	10042595	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr1:10042595A>G	ENST00000377205.1	+	5	820	c.676A>G	c.(676-678)Atc>Gtc	p.I226V		NM_022787.3	NP_073624.2	Q9HAN9	NMNA1_HUMAN	nicotinamide nucleotide adenylyltransferase 1	226					water-soluble vitamin metabolic process	nucleoplasm	ATP binding|nicotinamide-nucleotide adenylyltransferase activity|nicotinate-nucleotide adenylyltransferase activity|protein binding			large_intestine(2)|lung(2)|stomach(1)	5		all_lung(284;0.000407)|Renal(390;0.000469)|Lung NSC(185;0.000577)|Colorectal(325;0.0062)|Breast(348;0.00686)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.31e-08)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(185;0.00028)|BRCA - Breast invasive adenocarcinoma(304;0.00032)|KIRC - Kidney renal clear cell carcinoma(229;0.00101)|STAD - Stomach adenocarcinoma(132;0.00908)|READ - Rectum adenocarcinoma(331;0.0419)		ATCCACAAAAATCCGGAGAGC	0.448													71	11					0	0	1	0	0	G	10042595	A	G	10042595	3	3	428	1	0	0	0	0	1	0	0	0	10545	101	4	3	690	3	NMNAT1	1	10042595	Missense_Mutation	SNP	A	TCGA-S9-A6WH-01A-12D-A33T-08	381291	10042595	239208026	3	34570											
UBR4	23352	broad.mit.edu	37	1	19523634	19523634	+	Splice_Site	SNP	C	C	T			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr1:19523634C>T	ENST00000375267.2	-	8	1022		c.e8+1		UBR4_ENST00000375217.2_Splice_Site|UBR4_ENST00000375226.2_Splice_Site|UBR4_ENST00000375254.3_Splice_Site			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4						interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		TAACTTCTCACCTGCATACAG	0.428													20	83					0	0	1	0	0	T	19523634	C	T	19523634	5	4	428	1	0	0	0	0	0	0	1	0	16965	521	18	2	14928	2	UBR4	1	19523634	Splice_Site	SNP	C	TCGA-S9-A6WH-01A-12D-A33T-08	9481039	19523634	229726987	4	34571											
RIMKLA	284716	broad.mit.edu	37	1	42880615	42880615	+	Silent	SNP	C	C	T			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr1:42880615C>T	ENST00000431473.3	+	5	1275	c.1146C>T	c.(1144-1146)aaC>aaT	p.N382N		NM_173642.3	NP_775913.2	Q8IXN7	RIMKA_HUMAN	ribosomal modification protein rimK-like family member A	382					protein modification process	cytoplasm	acid-amino acid ligase activity|ATP binding|metal ion binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	13						ACATTAACAACAGGATTGCTT	0.458													12	133					0	0	1	0	0	T	42880615	C	T	42880615	2	4	428	1	0	0	0	0	0	0	0	1	13417	477	17	2		2	RIMKLA	1	42880615	Silent	SNP	C	TCGA-S9-A6WH-01A-12D-A33T-08	23356981	42880615	206370006	5	34572											
TNNI3K	51086	broad.mit.edu	37	1	74954885	74954885	+	Missense_Mutation	SNP	T	T	A			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr1:74954885T>A	ENST00000370891.2	+	24	2453	c.2437T>A	c.(2437-2439)Ttt>Att	p.F813I	LRRC53_ENST00000294635.4_Intron|FPGT-TNNI3K_ENST00000557284.2_Missense_Mutation_p.F826I|TNNI3K_ENST00000326637.3_Missense_Mutation_p.F712I	NM_001112808.2	NP_001106279.2			TNNI3 interacting kinase											cervix(1)|endometrium(3)|kidney(5)|large_intestine(21)|lung(31)|ovary(4)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	76						AAGACCCGAATTTTCTGAAGT	0.348													10	70					0	0	1	0	0	A	74954885	T	A	74954885	3	1	428	1	0	0	0	0	1	0	0	0	16389	1493	52	4	2575	4	TNNI3K	1	74954885	Missense_Mutation	SNP	T	TCGA-S9-A6WH-01A-12D-A33T-08	32074270	74954885	174295736	6	34573											
CDC7	8317	broad.mit.edu	37	1	91989862	91989862	+	Nonsense_Mutation	SNP	T	T	G			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr1:91989862T>G	ENST00000428239.1	+	12	1854	c.1595T>G	c.(1594-1596)tTa>tGa	p.L532*	CDC7_ENST00000430031.2_Nonsense_Mutation_p.L504*|CDC7_ENST00000234626.6_Nonsense_Mutation_p.L532*	NM_001134420.1	NP_001127892.1	O00311	CDC7_HUMAN	cell division cycle 7	532	Protein kinase.				cell cycle checkpoint|cell division|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|positive regulation of cell proliferation|regulation of S phase	cytoplasm|nucleoplasm	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|stomach(2)	23		all_lung(203;0.0165)|Lung NSC(277;0.0562)		all cancers(265;0.00108)|Epithelial(280;0.0184)|KIRC - Kidney renal clear cell carcinoma(1967;0.124)		aATACCAATTTAGAAGGCTGG	0.388													15	212					0	0	1	0	0	G	91989862	T	G	91989862	4	3	428	1	0	0	0	0	0	1	0	0	3106	1764	61	5	1637	5	CDC7	1	91989862	Nonsense_Mutation	SNP	T	TCGA-S9-A6WH-01A-12D-A33T-08	17034977	91989862	157260759	7	34574											
RPL5	6125	broad.mit.edu	37	1	93301832	93301832	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr1:93301832G>A	ENST00000370321.3	+	5	500	c.410G>A	c.(409-411)gGt>gAt	p.G137D		NM_000969.3	NP_000960.2	P46777	RL5_HUMAN	ribosomal protein L5	137					endocrine pancreas development|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	5S rRNA binding|protein binding|structural constituent of ribosome			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9		all_lung(203;0.00265)|Lung NSC(277;0.0056)|all_neural(321;0.185)|Melanoma(281;0.192)|Glioma(108;0.203)		GBM - Glioblastoma multiforme(16;0.000305)|all cancers(265;0.000343)|Epithelial(280;0.0927)		AGCATTGATGGTCAGCCAGGT	0.483													5	139					0	0	1	0	0	A	93301832	G	A	93301832	3	1	428	1	0	0	0	0	1	0	0	0	13649	1261	44	2	428	2	RPL5	1	93301832	Missense_Mutation	SNP	G	TCGA-S9-A6WH-01A-12D-A33T-08	1311970	93301832	155948789	8	34575											
SETDB1	9869	broad.mit.edu	37	1	150922948	150922950	+	In_Frame_Del	DEL	CCA	CCA	-			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr1:150922948_150922950delCCA	ENST00000271640.5	+	13	1785_1787	c.1595_1597delCCA	c.(1594-1599)tccaca>tca	p.T533del	SETDB1_ENST00000459773.1_Intron|SETDB1_ENST00000368969.4_In_Frame_Del_p.T533del	NM_001145415.1|NM_012432.3	NP_001138887.1|NP_036564.3	Q15047	SETB1_HUMAN	SET domain, bifurcated 1	533					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|Golgi apparatus|nucleus|plasma membrane	DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding			NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)			CCTTTAGGCTCCACAGCCTCTGC	0.576													10	265	---	---	---	---						-	150922950	CCA	-	150922948	7	5	428	1	0	1	0	1	0	0	0	0	14192	855	30	0	1641	0	SETDB1	1	150922948	In_Frame_Del	DEL	CCA	TCGA-S9-A6WH-01A-12D-A33T-08	57621116	150922948	98327673	9	34576											
SLAMF1	6504	broad.mit.edu	37	1	160604539	160604539	+	Silent	SNP	G	G	T			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr1:160604539G>T	ENST00000302035.6	-	3	913	c.564C>A	c.(562-564)gcC>gcA	p.A188A	SLAMF1_ENST00000538290.1_Silent_p.A188A|SLAMF1_ENST00000235739.5_Silent_p.A188A|SLAMF1_ENST00000355199.3_Silent_p.A188A	NM_003037.2	NP_003028.1	Q13291	SLAF1_HUMAN	signaling lymphocytic activation molecule family member 1	188	Ig-like C2-type.				interspecies interaction between organisms|lymphocyte activation|positive regulation of cell proliferation	integral to membrane	antigen binding|transmembrane receptor activity			breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(52;4.94e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			GGGAGCTGTTGGCTGGGTTCA	0.587													11	196					3.86212e-05	3.92703e-05	1	1	0	T	160604539	G	T	160604539	2	4	428	1	0	0	0	0	0	0	0	1	14422	1335	47	5		5	SLAMF1	1	160604539	Silent	SNP	G	TCGA-S9-A6WH-01A-12D-A33T-08	9681591	160604539	88646082	10	34577											
NOS1AP	9722	broad.mit.edu	37	1	162313631	162313631	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr1:162313631G>A	ENST00000361897.5	+	6	862	c.460G>A	c.(460-462)Gct>Act	p.A154T	NOS1AP_ENST00000530878.1_Missense_Mutation_p.A149T	NM_001164757.1|NM_014697.2	NP_001158229.1|NP_055512.1	O75052	CAPON_HUMAN	nitric oxide synthase 1 (neuronal) adaptor protein	154	PID.				regulation of apoptosis|regulation of nitric oxide biosynthetic process|regulation of nitric-oxide synthase activity		nitric-oxide synthase binding|PDZ domain binding			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	32	all_hematologic(112;0.203)		BRCA - Breast invasive adenocarcinoma(70;0.0537)			CCAGAGCCAAGCTATGAGAAT	0.537													9	197					0	0	1	0	0	A	162313631	G	A	162313631	3	1	428	1	0	0	0	0	1	0	0	0	10589	971	34	2	482	2	NOS1AP	1	162313631	Missense_Mutation	SNP	G	TCGA-S9-A6WH-01A-12D-A33T-08	1709092	162313631	86936990	11	34578											
C1orf115	79762	broad.mit.edu	37	1	220870064	220870064	+	Silent	SNP	C	C	T			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr1:220870064C>T	ENST00000294889.5	+	2	978	c.420C>T	c.(418-420)ttC>ttT	p.F140F		NM_024709.4	NP_078985.3	Q9H7X2	CA115_HUMAN	chromosome 1 open reading frame 115	140						integral to membrane				large_intestine(1)|lung(1)	2				GBM - Glioblastoma multiforme(131;0.0273)		TGGTATCCTTCGTGCGCTAAT	0.592													16	156					0	0	1	0	0	T	220870064	C	T	220870064	2	4	428	1	0	0	0	0	0	0	0	1	2001	883	31	1		1	C1orf115	1	220870064	Silent	SNP	C	TCGA-S9-A6WH-01A-12D-A33T-08	58556433	220870064	28380557	12	34579											
LYST	1130	broad.mit.edu	37	1	235950608	235950608	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr1:235950608T>C	ENST00000389794.3	-	14	4928	c.4754A>G	c.(4753-4755)aAt>aGt	p.N1585S	LYST_ENST00000389793.2_Missense_Mutation_p.N1585S|LYST_ENST00000536965.1_3'UTR			Q99698	LYST_HUMAN	lysosomal trafficking regulator	1585					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			GAGGAAAATATTCTCCTGTGA	0.413													17	343					0	0	1	0	0	C	235950608	T	C	235950608	3	2	428	1	0	0	0	0	1	0	0	0	9174	1493	52	3	6811	3	LYST	1	235950608	Missense_Mutation	SNP	T	TCGA-S9-A6WH-01A-12D-A33T-08	15080544	235950608	13300013	13	34580											
OR2T3	343173	broad.mit.edu	37	1	248637146	248637146	+	Silent	SNP	C	C	T			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr1:248637146C>T	ENST00000359594.2	+	1	520	c.495C>T	c.(493-495)acC>acT	p.T165T		NM_001005495.1	NP_001005495.1	Q8NH03	OR2T3_HUMAN	olfactory receptor, family 2, subfamily T, member 3	165					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3)	31	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TGTTGCTCACCCCCATTACCA	0.537													21	114					0	0	1	0	0	T	248637146	C	T	248637146	2	4	428	1	0	0	0	0	0	0	0	1	11071	610	22	2		2	OR2T3	1	248637146	Silent	SNP	C	TCGA-S9-A6WH-01A-12D-A33T-08	12686538	248637146	613475	14	34581											
ACTR2	10097	broad.mit.edu	37	2	65467018	65467018	+	Silent	SNP	T	T	C			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr2:65467018T>C	ENST00000260641.5	+	2	238	c.81T>C	c.(79-81)ttT>ttC	p.F27F	ACTR2_ENST00000542850.1_5'UTR|ACTR2_ENST00000476840.1_3'UTR|ACTR2_ENST00000377982.4_Silent_p.F27F	NM_005722.3	NP_005713.1	P61160	ARP2_HUMAN	ARP2 actin-related protein 2 homolog (yeast)	27					cellular component movement	Arp2/3 protein complex|cell projection|cytoplasm	actin binding|ATP binding			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(1)|prostate(1)	12						GCTCTAACTTTCCAGAACACA	0.343													23	208					0	0	1	0	0	C	65467018	T	C	65467018	2	2	428	1	0	0	0	0	0	0	0	1	211	1780	62	3		3	ACTR2	2	65467018	Silent	SNP	T	TCGA-S9-A6WH-01A-12D-A33T-08		65467018	177732355	15	34582											
CCDC142	84865	broad.mit.edu	37	2	74709771	74709771	+	Missense_Mutation	SNP	T	T	G			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr2:74709771T>G	ENST00000393965.3	-	1	590	c.194A>C	c.(193-195)gAg>gCg	p.E65A	CCDC142_ENST00000471713.1_Intron|CCDC142_ENST00000290418.4_Missense_Mutation_p.E65A	NM_032779.3	NP_116168.3	Q17RM4	CC142_HUMAN	coiled-coil domain containing 142	65										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	16						CTCGTAGTCCTCGCTCACATC	0.716													12	45					0	0	1	0	0	G	74709771	T	G	74709771	3	3	428	1	0	0	0	0	1	0	0	0	2794	1551	54	5	2073	5	CCDC142	2	74709771	Missense_Mutation	SNP	T	TCGA-S9-A6WH-01A-12D-A33T-08	9242753	74709771	168489602	16	34583											
GGCX	2677	broad.mit.edu	37	2	85777115	85777115	+	Missense_Mutation	SNP	T	T	G			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr2:85777115T>G	ENST00000233838.4	-	15	2299	c.2219A>C	c.(2218-2220)gAt>gCt	p.D740A	GGCX_ENST00000430215.3_Missense_Mutation_p.D683A	NM_000821.5	NP_000812.2	P38435	VKGC_HUMAN	gamma-glutamyl carboxylase						blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification	endoplasmic reticulum membrane|integral to membrane|membrane fraction	gamma-glutamyl carboxylase activity			endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|stomach(1)|urinary_tract(2)	15					Anisindione(DB01125)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Drotrecogin alfa(DB00055)|L-Glutamic Acid(DB00142)|Menadione(DB00170)|Phytonadione(DB01022)	ATGTGAAGAATCCGTGTTTGA	0.507													41	65					0	0	1	0	0	G	85777115	T	G	85777115	3	3	428	1	0	0	0	0	1	0	0	0	6398	1435	50	4	61	4	GGCX	2	85777115	Missense_Mutation	SNP	T	TCGA-S9-A6WH-01A-12D-A33T-08	11067344	85777115	157422258	17	34584											
GCC2	9648	broad.mit.edu	37	2	109109230	109109230	+	Missense_Mutation	SNP	T	T	A			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr2:109109230T>A	ENST00000309863.6	+	19	5145	c.4431T>A	c.(4429-4431)aaT>aaA	p.N1477K		NM_181453.3	NP_852118	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain containing 2	1477					Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum	membrane|trans-Golgi network	identical protein binding			breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						AGCTTAAGAATGAACCGACCA	0.388													5	80					0	0	1	0	0	A	109109230	T	A	109109230	3	1	428	1	0	0	0	0	1	0	0	0	6326	1461	51	4	4505	4	GCC2	2	109109230	Missense_Mutation	SNP	T	TCGA-S9-A6WH-01A-12D-A33T-08	23332115	109109230	134090143	18	34585											
TTN	7273	broad.mit.edu	37	2	179615659	179615659	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr2:179615659A>G	ENST00000360870.5	-	46	11690	c.11468T>C	c.(11467-11469)tTa>tCa	p.L3823S	TTN_ENST00000591111.1_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000585451.1_RNA	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	9657							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCACCATATAAATGGTCTTT	0.363													47	212					0	0	1	0	0	G	179615659	A	G	179615659	3	3	428	1	0	0	0	0	1	0	0	0	16797	372	13	3	98829	3	TTN	2	179615659	Missense_Mutation	SNP	A	TCGA-S9-A6WH-01A-12D-A33T-08	70506429	179615659	63583714	19	34586											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	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	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								73	110					0	0	1	0	0	T	209113112	C	T	209113112	3	4	428	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-S9-A6WH-01A-12D-A33T-08	29497453	209113112	34086261	20	34587											
IHH	3549	broad.mit.edu	37	2	219920186	219920186	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr2:219920186C>T	ENST00000295731.6	-	3	978	c.979G>A	c.(979-981)Ggg>Agg	p.G327R		NM_002181.3	NP_002172.2	Q14623	IHH_HUMAN	indian hedgehog						cell-cell signaling|intein-mediated protein splicing|proteolysis	extracellular space|plasma membrane	cholesterol binding|patched binding|peptidase activity			breast(1)|endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	14		Renal(207;0.0915)		Epithelial(149;1.13e-06)|all cancers(144;0.000188)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCGTAGGCCCCGAGGGCCACG	0.672													4	42					0	0	1	0	0	T	219920186	C	T	219920186	3	4	428	1	0	0	0	0	1	0	0	0	7651	652	23	1	260	1	IHH	2	219920186	Missense_Mutation	SNP	C	TCGA-S9-A6WH-01A-12D-A33T-08	10807074	219920186	23279187	21	34588											
HRH1	3269	broad.mit.edu	37	3	11301252	11301252	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr3:11301252G>A	ENST00000397056.1	+	3	720	c.529G>A	c.(529-531)Gag>Aag	p.E177K	HRH1_ENST00000431010.2_Missense_Mutation_p.E177K|HRH1_ENST00000438284.2_Missense_Mutation_p.E177K	NM_000861.3|NM_001098211.1	NP_000852.1|NP_001091681.1	P35367	HRH1_HUMAN	histamine receptor H1	177					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|inflammatory response	cytoplasm|integral to plasma membrane|nucleus	histamine receptor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25					Aceprometazine(DB01615)|Astemizole(DB00637)|Azatadine(DB00719)|Azelastine(DB00972)|Benzquinamide(DB00767)|Bepotastine(DB04890)|Bromodiphenhydramine(DB01237)|Brompheniramine(DB00835)|Buclizine(DB00354)|Carbinoxamine(DB00748)|Cetirizine(DB00341)|Chlophedianol(DB04837)|Chlorpheniramine(DB01114)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clemastine(DB00283)|Clozapine(DB00363)|Cyclizine(DB01176)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexbrompheniramine(DB00405)|Dimenhydrinate(DB00985)|Diphenhydramine(DB01075)|Diphenylpyraline(DB01146)|Doxepin(DB01142)|Doxylamine(DB00366)|Emedastine(DB01084)|Epinastine(DB00751)|Fexofenadine(DB00950)|Flunarizine(DB04841)|Histamine Phosphate(DB00667)|Hydroxyzine(DB00557)|Ketotifen(DB00920)|Levocabastine(DB01106)|Loratadine(DB00455)|Maprotiline(DB00934)|Meclizine(DB00737)|Mequitazine(DB01071)|Methdilazine(DB00902)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Nedocromil(DB00716)|Olanzapine(DB00334)|Olopatadine(DB00768)|Orphenadrine(DB01173)|Pemirolast(DB00885)|Phenindamine(DB01619)|Pheniramine(DB01620)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Terfenadine(DB00342)|Thiethylperazine(DB00372)|Trazodone(DB00656)|Trimeprazine(DB01246)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Ziprasidone(DB00246)	GGTGCGCCGAGAGGACAAGTG	0.522													10	240					0	0	1	0	0	A	11301252	G	A	11301252	3	1	428	1	0	0	0	0	1	0	0	0	7396	943	33	2	531	2	HRH1	3	11301252	Missense_Mutation	SNP	G	TCGA-S9-A6WH-01A-12D-A33T-08		11301252	186721178	22	34589											
SATB1	6304	broad.mit.edu	37	3	18428052	18428052	+	Nonsense_Mutation	SNP	G	G	A			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr3:18428052G>A	ENST00000338745.6	-	8	2992	c.1258C>T	c.(1258-1260)Cag>Tag	p.Q420*	TBC1D5_ENST00000414318.2_Intron|SATB1_ENST00000454909.2_Nonsense_Mutation_p.Q420*|SATB1_ENST00000417717.2_Nonsense_Mutation_p.Q420*	NM_002971.4	NP_002962.1	Q01826	SATB1_HUMAN	SATB homeobox 1	420					cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter	nuclear matrix|PML body	double-stranded DNA binding|sequence-specific DNA binding			NS(2)|breast(2)|endometrium(6)|large_intestine(4)|lung(10)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	32						AGCAAAGACTGGGATGCAGTC	0.502													7	184					0	0	1	0	0	A	18428052	G	A	18428052	4	1	428	1	0	0	0	0	0	1	0	0	13906	1357	47	2	1049	2	SATB1	3	18428052	Nonsense_Mutation	SNP	G	TCGA-S9-A6WH-01A-12D-A33T-08	7126800	18428052	179594378	23	34590											
QARS	5859	broad.mit.edu	37	3	49139864	49139866	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr3:49139864_49139866delCTC	ENST00000306125.6	-	6	893_895	c.556_558delGAG	c.(556-558)gagdel	p.E186del	QARS_ENST00000414533.1_In_Frame_Del_p.E175del|QARS_ENST00000470225.1_5'UTR|QARS_ENST00000420147.2_In_Frame_Del_p.E204del			P47897	SYQ_HUMAN	glutaminyl-tRNA synthetase	186					glutaminyl-tRNA aminoacylation	cytosol|mitochondrial matrix	ATP binding|glutamine-tRNA ligase activity|protein binding			breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	L-Glutamine(DB00130)	TGAACTTCTTCTCCAGATCAGCC	0.576													9	159	---	---	---	---						-	49139866	CTC	-	49139864	7	5	428	1	0	1	0	1	0	0	0	0	12923	912	32	0	1845	0	QARS	3	49139864	In_Frame_Del	DEL	CTC	TCGA-S9-A6WH-01A-12D-A33T-08	30711812	49139864	148882566	24	34591											
USP4	7375	broad.mit.edu	37	3	49365164	49365166	+	In_Frame_Del	DEL	TAG	TAG	-	rs143074429	byFrequency	TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr3:49365164_49365166delTAG	ENST00000351842.4	-	3	321_323	c.313_315delCTA	c.(313-315)ctadel	p.L105del	USP4_ENST00000265560.4_In_Frame_Del_p.L105del|USP4_ENST00000415188.1_In_Frame_Del_p.L105del|USP4_ENST00000416417.1_In_Frame_Del_p.L105del	NM_199443.2	NP_955475.1	Q13107	UBP4_HUMAN	ubiquitin specific peptidase 4 (proto-oncogene)	105	DUSP.				negative regulation of protein ubiquitination|protein deubiquitination|protein localization at cell surface|regulation of protein stability|ubiquitin-dependent protein catabolic process	lysosome|nucleus	adenosine receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121)		OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05)		CGTACCAGTTTAGTAGTTTATTC	0.443													17	181	---	---	---	---						-	49365166	TAG	-	49365164	7	5	428	1	0	1	0	1	0	0	0	0	17131	1741	61	0	2656	0	USP4	3	49365164	In_Frame_Del	DEL	TAG	TCGA-S9-A6WH-01A-12D-A33T-08	225300	49365164	148657266	25	34592											
RYBP	23429	broad.mit.edu	37	3	72427764	72427764	+	Missense_Mutation	SNP	C	C	G			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr3:72427764C>G	ENST00000477973.2	-	4	723	c.724G>C	c.(724-726)Gag>Cag	p.E242Q		NM_012234.5	NP_036366.3	Q8N488	RYBP_HUMAN	RING1 and YY1 binding protein						apoptosis|histone H2A monoubiquitination|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleoplasm	DNA binding|protein binding|transcription corepressor activity|zinc ion binding			prostate(1)|upper_aerodigestive_tract(1)	2		Prostate(10;0.00174)|Lung NSC(201;0.0659)|Myeloproliferative disorder(1037;0.204)		BRCA - Breast invasive adenocarcinoma(55;0.000197)|Epithelial(33;0.00068)|LUSC - Lung squamous cell carcinoma(21;0.00228)|Lung(16;0.00677)|KIRC - Kidney renal clear cell carcinoma(39;0.198)|Kidney(39;0.232)		GTGCAGTGCTCCTGTCCACGT	0.483													6	147					0	0	1	0	0	G	72427764	C	G	72427764	3	3	428	1	0	0	0	0	1	0	0	0	13818	854	30	5	231	5	RYBP	3	72427764	Missense_Mutation	SNP	C	TCGA-S9-A6WH-01A-12D-A33T-08	23062600	72427764	125594666	26	34593											
PCCB	5096	broad.mit.edu	37	3	136046565	136046565	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr3:136046565G>A	ENST00000471595.1	+	13	1407	c.1389G>A	c.(1387-1389)atG>atA	p.M463I	PCCB_ENST00000251654.4_Missense_Mutation_p.M463I|PCCB_ENST00000462637.1_Missense_Mutation_p.M440I|PCCB_ENST00000478469.1_Intron|PCCB_ENST00000482086.1_Missense_Mutation_p.M347I|PCCB_ENST00000469217.1_Missense_Mutation_p.M483I|PCCB_ENST00000468777.1_Missense_Mutation_p.M494I|PCCB_ENST00000466072.1_Missense_Mutation_p.M483I|PCCB_ENST00000490504.1_Missense_Mutation_p.M406I|PCCB_ENST00000474833.1_3'UTR|PCCB_ENST00000483687.1_Missense_Mutation_p.M444I			P05166	PCCB_HUMAN	propionyl CoA carboxylase, beta polypeptide	463	Carboxyltransferase.				fatty acid beta-oxidation	mitochondrial matrix	ATP binding|propionyl-CoA carboxylase activity			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|urinary_tract(1)	25					Biotin(DB00121)|L-Valine(DB00161)	TTGCAGTCATGGGAGCAAAGG	0.522													29	43					0	0	1	0	0	A	136046565	G	A	136046565	3	1	428	1	0	0	0	0	1	0	0	0	11552	1348	47	2	1503	2	PCCB	3	136046565	Missense_Mutation	SNP	G	TCGA-S9-A6WH-01A-12D-A33T-08	63618801	136046565	61975865	27	34594											
MLF1	4291	broad.mit.edu	37	3	158314692	158314692	+	Silent	SNP	G	G	C			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr3:158314692G>C	ENST00000359117.5	+	3	398	c.162G>C	c.(160-162)gtG>gtC	p.V54V	MLF1_ENST00000392822.3_Silent_p.V110V|MLF1_ENST00000484955.1_Silent_p.V54V|MLF1_ENST00000469452.1_Silent_p.V54V|MLF1_ENST00000482628.1_Silent_p.V54V|MLF1_ENST00000355893.5_Silent_p.V79V|MLF1_ENST00000497004.1_3'UTR|MLF1_ENST00000478894.2_Silent_p.V69V|MLF1_ENST00000471745.1_Silent_p.V69V	NM_001130156.2	NP_001123628.1	P58340	MLF1_HUMAN	myeloid leukemia factor 1	79	Interaction with COPS3.				cell cycle arrest|myeloid progenitor cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein domain specific binding			large_intestine(3)	3		Melanoma(1037;0.000458)|Prostate(884;0.0235)|all_neural(597;0.0299)	Lung(72;0.00199)|LUSC - Lung squamous cell carcinoma(72;0.00256)			ACCAAATGGTGTCAAATATGA	0.313			T	NPM1	AML								3	72					0	0	1	0	0	C	158314692	G	C	158314692	2	2	428	1	0	0	0	0	0	0	0	1	9662	1364	48	5		5	MLF1	3	158314692	Silent	SNP	G	TCGA-S9-A6WH-01A-12D-A33T-08	22268127	158314692	39707738	28	34595											
TNIK	23043	broad.mit.edu	37	3	170843805	170843805	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr3:170843805G>A	ENST00000436636.2	-	17	2253	c.1909C>T	c.(1909-1911)Cgc>Tgc	p.R637C	TNIK_ENST00000538048.1_Missense_Mutation_p.R582C|TNIK_ENST00000357327.5_Missense_Mutation_p.R608C|TNIK_ENST00000284483.8_Missense_Mutation_p.R637C|TNIK_ENST00000488470.1_Missense_Mutation_p.R582C|TNIK_ENST00000470834.1_Missense_Mutation_p.R608C|TNIK_ENST00000369326.5_Missense_Mutation_p.R608C|TNIK_ENST00000475336.1_Missense_Mutation_p.R553C|TNIK_ENST00000341852.6_Missense_Mutation_p.R553C|TNIK_ENST00000460047.1_Missense_Mutation_p.R582C	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	637	Mediates interaction with NEDD4.				actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	p.R637C(2)		cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			GAGTTCTGGCGTGGCATCTCC	0.572													28	95					0	0	1	0	0	A	170843805	G	A	170843805	3	1	428	1	0	0	0	0	1	0	0	0	16373	1145	40	1	2241	1	TNIK	3	170843805	Missense_Mutation	SNP	G	TCGA-S9-A6WH-01A-12D-A33T-08	12529113	170843805	27178625	29	34596											
ATP13A5	344905	broad.mit.edu	37	3	193019013	193019013	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr3:193019013A>G	ENST00000342358.4	-	24	2879	c.2762T>C	c.(2761-2763)tTa>tCa	p.L921S	ATP13A5_ENST00000495496.1_5'UTR	NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	921					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		ATAGAGCAGTAATGCACTGAT	0.348													21	291					0	0	1	0	0	G	193019013	A	G	193019013	3	3	428	1	0	0	0	0	1	0	0	0	1126	372	13	3	920	3	ATP13A5	3	193019013	Missense_Mutation	SNP	A	TCGA-S9-A6WH-01A-12D-A33T-08	22175208	193019013	5003417	30	34597											
ADH1C	126	broad.mit.edu	37	4	100268753	100268754	+	RNA	INS	-	-	ATTTAT	rs35500540	byFrequency	TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr4:100268753_100268754insATTTAT	ENST00000515683.1	-	0	472				ADH1C_ENST00000510055.1_RNA	NM_000669.3	NP_000660.1	P00326	ADH1G_HUMAN	alcohol dehydrogenase 1C (class I), gamma polypeptide						ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|zinc ion binding								OV - Ovarian serous cystadenocarcinoma(123;1.08e-07)	Fomepizole(DB01213)|NADH(DB00157)	AAAATTTAACAATTTATACTTT	0.243													3	4	---	---	---	---						ATTTAT	100268754	-	ATTTAT	100268753	6	5	428	0	1	1	1	0	0	0	0	0	308	145	5	0		0	ADH1C	4	100268753	RNA	INS	-	TCGA-S9-A6WH-01A-12D-A33T-08		100268753	90885523	31	34598											
C4orf21	55345	broad.mit.edu	37	4	113539732	113539732	+	Missense_Mutation	SNP	G	G	T			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr4:113539732G>T	ENST00000505019.1	-	6	1591	c.1466C>A	c.(1465-1467)tCt>tAt	p.S489Y	C4orf21_ENST00000445203.2_Missense_Mutation_p.S458Y|C4orf21_ENST00000309071.5_Missense_Mutation_p.S489Y	NM_018392.4	NP_060862.3	Q86YA3	CD021_HUMAN	chromosome 4 open reading frame 21	489										breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		ATTATTACTAGATTCAATTTG	0.333													44	183					5.78141e-17	6.08305e-17	1	1	0	T	113539732	G	T	113539732	3	4	428	1	0	0	0	0	1	0	0	0	2269	942	33	4	4940	4	C4orf21	4	113539732	Missense_Mutation	SNP	G	TCGA-S9-A6WH-01A-12D-A33T-08	13270979	113539732	77614544	32	34599											
LMBRD2	92255	broad.mit.edu	37	5	36124351	36124351	+	Missense_Mutation	SNP	T	T	A			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr5:36124351T>A	ENST00000296603.4	-	7	1226	c.764A>T	c.(763-765)aAt>aTt	p.N255I		NM_001007527.1	NP_001007528.1	Q68DH5	LMBD2_HUMAN	LMBR1 domain containing 2	255						integral to membrane				breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(31;0.000146)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GATGCTTTCATTCACTTTACG	0.274													36	56					0	0	1	0	0	A	36124351	T	A	36124351	3	1	428	1	0	0	0	0	1	0	0	0	8884	1493	52	4	1371	4	LMBRD2	5	36124351	Missense_Mutation	SNP	T	TCGA-S9-A6WH-01A-12D-A33T-08		36124351	144790909	33	34600											
RHOBTB3	22836	broad.mit.edu	37	5	95088046	95088046	+	Missense_Mutation	SNP	A	A	C			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr5:95088046A>C	ENST00000379982.3	+	5	1182	c.674A>C	c.(673-675)gAa>gCa	p.E225A	GLRX_ENST00000508780.1_Intron	NM_014899.3	NP_055714.3	O94955	RHBT3_HUMAN	Rho-related BTB domain containing 3	225					retrograde transport, endosome to Golgi	Golgi apparatus	ATP binding|ATPase activity|Rab GTPase binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|skin(1)	16		all_cancers(142;2.58e-06)|all_epithelial(76;4.19e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0164)|Colorectal(57;0.0846)|Breast(839;0.198)		all cancers(79;8.79e-16)		CCTCAACTTGAACAACCAGGT	0.348													6	206					0	0	1	0	0	C	95088046	A	C	95088046	3	2	428	1	0	0	0	0	1	0	0	0	13385	246	9	5	692	5	RHOBTB3	5	95088046	Missense_Mutation	SNP	A	TCGA-S9-A6WH-01A-12D-A33T-08	58963695	95088046	85827214	34	34601											
PCDHGA12	26025	broad.mit.edu	37	5	140810520	140810520	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr5:140810520G>A	ENST00000252085.3	+	1	336	c.194G>A	c.(193-195)cGc>cAc	p.R65H	PCDHGB6_ENST00000520790.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1														breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCGGAGTCCGCATCATCCCC	0.657													9	239					0	0	1	0	0	A	140810520	G	A	140810520	3	1	428	1	0	0	0	0	1	0	0	0	11600	1087	38	1	196	1	PCDHGA12	5	140810520	Missense_Mutation	SNP	G	TCGA-S9-A6WH-01A-12D-A33T-08	45722474	140810520	40104740	35	34602											
PDE6A	5145	broad.mit.edu	37	5	149323960	149323960	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr5:149323960G>A	ENST00000255266.5	-	1	396	c.277C>T	c.(277-279)Cgc>Tgc	p.R93C		NM_000440.2	NP_000431.2	P16499	PDE6A_HUMAN	phosphodiesterase 6A, cGMP-specific, rod, alpha	93	GAF 1.				cytosolic calcium ion homeostasis|GMP metabolic process|platelet activation|signal transduction|visual perception	cytosol|plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	44			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			AGGCTCATGCGGTCTGCCTGC	0.517													27	101					0	0	1	0	0	A	149323960	G	A	149323960	3	1	428	1	0	0	0	0	1	0	0	0	11692	1116	39	1	2393	1	PDE6A	5	149323960	Missense_Mutation	SNP	G	TCGA-S9-A6WH-01A-12D-A33T-08	8513440	149323960	31591300	36	34603											
SERPINB9	5272	broad.mit.edu	37	6	2890403	2890403	+	Silent	SNP	C	C	T			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr6:2890403C>T	ENST00000380698.4	-	7	1214	c.1125G>A	c.(1123-1125)tcG>tcA	p.S375S		NM_004155.5	NP_004146.1	P50453	SPB9_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 9	375					anti-apoptosis|cellular response to estrogen stimulus|immune response|mast cell mediated immunity|regulation of proteolysis	cytosol|extracellular space|nucleus	caspase inhibitor activity|protease binding|serine-type endopeptidase inhibitor activity			breast(1)|endometrium(4)|large_intestine(3)|lung(5)|pancreas(1)|prostate(1)	15	Ovarian(93;0.0412)	all_hematologic(90;0.108)				CCCTTTATGGCGATGAGAACC	0.542													47	42					0	0	1	0	0	T	2890403	C	T	2890403	2	4	428	1	0	0	0	0	0	0	0	1	14162	755	27	1		1	SERPINB9	6	2890403	Silent	SNP	C	TCGA-S9-A6WH-01A-12D-A33T-08		2890403	168224664	37	34604											
DAAM2	23500	broad.mit.edu	37	6	39846201	39846201	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr6:39846201G>A	ENST00000538976.1	+	13	1564	c.1382G>A	c.(1381-1383)cGt>cAt	p.R461H	DAAM2_ENST00000398904.2_Missense_Mutation_p.R461H|DAAM2_ENST00000274867.4_Missense_Mutation_p.R461H	NM_015345.3	NP_056160.2	Q86T65	DAAM2_HUMAN	dishevelled associated activator of morphogenesis 2	461					actin cytoskeleton organization		actin binding|Rho GTPase binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49	Ovarian(28;0.0355)|Colorectal(47;0.196)					CTTGTGAGCCGTCTGGAGAGG	0.547													7	15					0	0	1	0	0	A	39846201	G	A	39846201	3	1	428	1	0	0	0	0	1	0	0	0	4240	1145	40	1	1428	1	DAAM2	6	39846201	Missense_Mutation	SNP	G	TCGA-S9-A6WH-01A-12D-A33T-08	36955798	39846201	131268866	38	34605											
XPO5	57510	broad.mit.edu	37	6	43496612	43496612	+	Missense_Mutation	SNP	G	G	T			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr6:43496612G>T	ENST00000265351.7	-	24	2939	c.2729C>A	c.(2728-2730)gCc>gAc	p.A910D	POLR1C_ENST00000304004.3_Intron	NM_020750.2	NP_065801.1	Q9HAV4	XPO5_HUMAN	exportin 5	910					gene silencing by RNA	cytosol|nucleoplasm	protein binding|tRNA binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(4)|lung(10)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	34	all_cancers(18;2.08e-05)|Lung NSC(15;0.000907)|all_lung(25;0.00243)		all cancers(41;0.000321)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0524)			GGATACCAGGGCTTCATAGTG	0.478													4	45					2.56e-06	2.62508e-06	1	1	0	T	43496612	G	T	43496612	3	4	428	1	0	0	0	0	1	0	0	0	17507	1203	42	5	921	5	XPO5	6	43496612	Missense_Mutation	SNP	G	TCGA-S9-A6WH-01A-12D-A33T-08	3650411	43496612	127618455	39	34606											
TDRD6	221400	broad.mit.edu	37	6	46656908	46656908	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr6:46656908A>G	ENST00000544460.1	+	1	1297	c.1043A>G	c.(1042-1044)tAt>tGt	p.Y348C	TDRD6_ENST00000316081.6_Missense_Mutation_p.Y348C	NM_001168359.1	NP_001161831.1	O60522	TDRD6_HUMAN	tudor domain containing 6	348	Tudor 2.				cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			CATGTGGACTATGGAAGGAAG	0.532													7	125					0	0	1	0	0	G	46656908	A	G	46656908	3	3	428	1	0	0	0	0	1	0	0	0	15793	449	16	3	1045	3	TDRD6	6	46656908	Missense_Mutation	SNP	A	TCGA-S9-A6WH-01A-12D-A33T-08	3160296	46656908	124458159	40	34607											
RNGTT	8732	broad.mit.edu	37	6	89600293	89600293	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr6:89600293G>A	ENST00000369485.4	-	8	1003	c.817C>T	c.(817-819)Cct>Tct	p.P273S	RNGTT_ENST00000265607.6_Missense_Mutation_p.P273S|RNGTT_ENST00000538899.1_Missense_Mutation_p.P213S|RNGTT_ENST00000369475.3_Missense_Mutation_p.P273S	NM_003800.3	NP_003791.3	O60942	MCE1_HUMAN	RNA guanylyltransferase and 5'-phosphatase	273	GTase.				interspecies interaction between organisms|mRNA capping|transcription from RNA polymerase II promoter|viral reproduction	nucleoplasm	GTP binding|mRNA guanylyltransferase activity|polynucleotide 5'-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	21		all_cancers(76;4.07e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;6.86e-05)		BRCA - Breast invasive adenocarcinoma(108;0.151)		ATGGAAACAGGCTGTGCTCCA	0.383													44	80					0	0	1	0	0	A	89600293	G	A	89600293	3	1	428	1	0	0	0	0	1	0	0	0	13555	1203	42	2	1012	2	RNGTT	6	89600293	Missense_Mutation	SNP	G	TCGA-S9-A6WH-01A-12D-A33T-08	42943385	89600293	81514774	41	34608											
SIM1	6492	broad.mit.edu	37	6	100868816	100868816	+	Silent	SNP	C	C	A			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr6:100868816C>A	ENST00000369208.3	-	10	1799	c.1017G>T	c.(1015-1017)ggG>ggT	p.G339G	SIM1_ENST00000262901.4_Silent_p.G339G			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	339	Single-minded C-terminal.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		AGAGCTGCAGCCCTTTGTATT	0.502													3	50					6.4e-05	6.45333e-05	1	1	0	A	100868816	C	A	100868816	2	1	428	1	0	0	0	0	0	0	0	1	14378	726	26	5		5	SIM1	6	100868816	Silent	SNP	C	TCGA-S9-A6WH-01A-12D-A33T-08	11268523	100868816	70246251	42	34609											
SEC63	11231	broad.mit.edu	37	6	108214765	108214765	+	Nonsense_Mutation	SNP	A	A	T			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr6:108214765A>T	ENST00000369002.4	-	16	1774	c.1595T>A	c.(1594-1596)tTa>tAa	p.L532*		NM_007214.4	NP_009145.1	Q9UGP8	SEC63_HUMAN	SEC63 homolog (S. cerevisiae)	532	SEC63 1.				protein folding|protein targeting to membrane	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|receptor activity|unfolded protein binding	p.L532*(2)		endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(87;5.35e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0294)		BRCA - Breast invasive adenocarcinoma(108;0.0079)|Epithelial(106;0.0356)|all cancers(137;0.0525)|OV - Ovarian serous cystadenocarcinoma(136;0.054)		TTTTTTTTTTAAAGGTTTCTT	0.368													8	240					0	0	1	0	0	T	108214765	A	T	108214765	4	4	428	1	0	0	0	0	0	1	0	0	14059	372	13	5	711	5	SEC63	6	108214765	Nonsense_Mutation	SNP	A	TCGA-S9-A6WH-01A-12D-A33T-08	7345949	108214765	62900302	43	34610											
SASH1	23328	broad.mit.edu	37	6	148865734	148865734	+	Missense_Mutation	SNP	C	C	G			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr6:148865734C>G	ENST00000367467.3	+	18	3603	c.3128C>G	c.(3127-3129)cCt>cGt	p.P1043R		NM_015278.3	NP_056093.3	O94885	SASH1_HUMAN	SAM and SH3 domain containing 1	1043	Pro-rich.						protein binding			breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)		GCTCCCAGGCCTCTCTCAGGG	0.697													4	44					0	0	1	0	0	G	148865734	C	G	148865734	3	3	428	1	0	0	0	0	1	0	0	0	13901	681	24	4	3198	4	SASH1	6	148865734	Missense_Mutation	SNP	C	TCGA-S9-A6WH-01A-12D-A33T-08	40650969	148865734	22249333	44	34611											
ABCA13	154664	broad.mit.edu	37	7	48349704	48349704	+	Missense_Mutation	SNP	G	G	C			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr7:48349704G>C	ENST00000435803.1	+	24	9506	c.9482G>C	c.(9481-9483)aGt>aCt	p.S3161T		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	3161					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						GTGTTGCTGAGTCGAAACTTG	0.512													11	458					0	0	1	0	0	C	48349704	G	C	48349704	3	2	428	1	0	0	0	0	1	0	0	0	31	1029	36	4	9405	4	ABCA13	7	48349704	Missense_Mutation	SNP	G	TCGA-S9-A6WH-01A-12D-A33T-08		48349704	110788959	45	34612											
CACNA2D1	781	broad.mit.edu	37	7	81598290	81598290	+	Splice_Site	SNP	C	C	G			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr7:81598290C>G	ENST00000356860.3	-	29	2647		c.e29-1		CACNA2D1_ENST00000535308.1_Intron|CACNA2D1_ENST00000356253.5_Splice_Site	NM_000722.2	NP_000713.2	P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1							voltage-gated calcium channel complex	metal ion binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)	GGTCCACTTTCtaaaaaaaaa	0.284													5	214					0	0	1	0	0	G	81598290	C	G	81598290	5	3	428	1	0	0	0	0	0	0	1	0	2566	927	32	4	1011	4	CACNA2D1	7	81598290	Splice_Site	SNP	C	TCGA-S9-A6WH-01A-12D-A33T-08	33248586	81598290	77540373	46	34613											
CYP3A5	1577	broad.mit.edu	37	7	99250313	99250313	+	Silent	SNP	T	T	C			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr7:99250313T>C	ENST00000343703.5	-	12	1472	c.1086A>G	c.(1084-1086)agA>agG	p.R362R	CYP3A5_ENST00000339843.2_3'UTR|CYP3A5_ENST00000222982.4_Silent_p.R372R					cytochrome P450, family 3, subfamily A, polypeptide 5											NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_epithelial(64;2.77e-08)|Lung NSC(181;0.00396)|all_lung(186;0.00659)|Esophageal squamous(72;0.0166)					TCCTCTCAAGTCTAATAGCAA	0.443													18	151					0	0	1	0	0	C	99250313	T	C	99250313	2	2	428	1	0	0	0	0	0	0	0	1	4203	1664	58	3		3	CYP3A5	7	99250313	Silent	SNP	T	TCGA-S9-A6WH-01A-12D-A33T-08	17652023	99250313	59888350	47	34614											
MEPCE	56257	broad.mit.edu	37	7	100028465	100028465	+	Frame_Shift_Del	DEL	C	C	-			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr7:100028465delC	ENST00000310512.2	+	1	1212	c.824delC	c.(823-825)gcafs	p.A276fs	MEPCE_ENST00000414441.1_5'UTR	NM_019606.5	NP_062552.2	Q7L2J0	MEPCE_HUMAN	methylphosphate capping enzyme	276							methyltransferase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(9)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CAGCAGCAGGCAGCCGGAGGG	0.652													28	311	---	---	---	---						-	100028465	C	-	100028465	7	5	428	1	0	1	0	1	0	0	0	0	9527	710	25	0	826	0	MEPCE	7	100028465	Frame_Shift_Del	DEL	C	TCGA-S9-A6WH-01A-12D-A33T-08	778152	100028465	59110198	48	34615											
PTK2B	2185	broad.mit.edu	37	8	27279865	27279865	+	Silent	SNP	G	G	A			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr8:27279865G>A	ENST00000397501.1	+	10	1324	c.516G>A	c.(514-516)gaG>gaA	p.E172E	PTK2B_ENST00000338238.4_Silent_p.E172E|PTK2B_ENST00000346049.5_Silent_p.E172E|PTK2B_ENST00000517339.1_Silent_p.E172E|PTK2B_ENST00000544172.1_Silent_p.E172E|PTK2B_ENST00000420218.2_Silent_p.E172E	NM_173174.2	NP_775266.1	Q14289	FAK2_HUMAN	protein tyrosine kinase 2 beta	172	FERM.				apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Ovarian(32;2.72e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)		AGGTCAGCGAGGGCATGGCCC	0.652													3	69					0	0	1	0	0	A	27279865	G	A	27279865	2	1	428	1	0	0	0	0	0	0	0	1	12813	991	35	2		2	PTK2B	8	27279865	Silent	SNP	G	TCGA-S9-A6WH-01A-12D-A33T-08		27279865	119084157	49	34616											
KCNU1	157855	broad.mit.edu	37	8	36793054	36793054	+	Silent	SNP	C	C	T			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr8:36793054C>T	ENST00000399881.3	+	27	3103	c.3066C>T	c.(3064-3066)gcC>gcT	p.A1022A		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	1022						voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		CCCGGCCAGCCAATGAGTTCA	0.458													9	245					0	0	1	0	0	T	36793054	C	T	36793054	2	4	428	1	0	0	0	0	0	0	0	1	8137	581	21	2		2	KCNU1	8	36793054	Silent	SNP	C	TCGA-S9-A6WH-01A-12D-A33T-08	9513189	36793054	109570968	50	34617											
RAB11FIP1	80223	broad.mit.edu	37	8	37734844	37734844	+	Silent	SNP	C	C	T			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr8:37734844C>T	ENST00000330843.4	-	2	609	c.597G>A	c.(595-597)tcG>tcA	p.S199S	RAB11FIP1_ENST00000524118.1_Silent_p.S51S|RAB11FIP1_ENST00000522727.1_Silent_p.S51S|RAB11FIP1_ENST00000287263.4_Silent_p.S199S	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 (class I)	199					protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding			NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			CACTGTCGACCGAAGGTGTCG	0.468													11	406					0	0	1	0	0	T	37734844	C	T	37734844	2	4	428	1	0	0	0	0	0	0	0	1	12945	639	23	1		1	RAB11FIP1	8	37734844	Silent	SNP	C	TCGA-S9-A6WH-01A-12D-A33T-08	941790	37734844	108629178	51	34618											
PRKDC	5591	broad.mit.edu	37	8	48790318	48790318	+	Nonsense_Mutation	SNP	A	A	T			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr8:48790318A>T	ENST00000314191.2	-	41	5383	c.5327T>A	c.(5326-5328)tTa>tAa	p.L1776*	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Nonsense_Mutation_p.L1776*	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	1777					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				GGATTGAAATAATTCTTCCAT	0.413								Non-homologous end-joining					8	238					0	0	1	0	0	T	48790318	A	T	48790318	4	4	428	1	0	0	0	0	0	1	0	0	12573	372	13	5	7244	5	PRKDC	8	48790318	Nonsense_Mutation	SNP	A	TCGA-S9-A6WH-01A-12D-A33T-08	11055474	48790318	97573704	52	34619											
CYP7A1	1581	broad.mit.edu	37	8	59404091	59404091	+	Missense_Mutation	SNP	C	C	A			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr8:59404091C>A	ENST00000301645.3	-	6	1595	c.1458G>T	c.(1456-1458)ttG>ttT	p.L486F		NM_000780.3	NP_000771.2	P22680	CP7A1_HUMAN	cytochrome P450, family 7, subfamily A, polypeptide 1	486					bile acid biosynthetic process|cellular lipid metabolic process|cellular response to cholesterol|cellular response to glucose stimulus|cholesterol catabolic process|cholesterol homeostasis|regulation of bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	cholesterol 7-alpha-monooxygenase activity|electron carrier activity|heme binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(1)|urinary_tract(1)	34		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)				GCAAAATGCCCAAGCCTGCCC	0.383									Neonatal Giant Cell Hepatitis				22	106					8.10497e-08	8.38207e-08	1	1	0	A	59404091	C	A	59404091	3	1	428	1	0	0	0	0	1	0	0	0	4219	593	21	5	60	5	CYP7A1	8	59404091	Missense_Mutation	SNP	C	TCGA-S9-A6WH-01A-12D-A33T-08	10613773	59404091	86959931	53	34620											
C8orf34	116328	broad.mit.edu	37	8	69688649	69688649	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr8:69688649G>A	ENST00000337103.4	+	10	2679	c.1087G>A	c.(1087-1089)Gga>Aga	p.G363R	C8orf34_ENST00000518698.1_Missense_Mutation_p.G474R|C8orf34_ENST00000539993.1_Missense_Mutation_p.G388R|C8orf34_ENST00000325233.3_Missense_Mutation_p.G132R			Q49A92	CH034_HUMAN	chromosome 8 open reading frame 34	388					signal transduction		cAMP-dependent protein kinase regulator activity			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	36			Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)			AGCCTCCAGTGGAGTAGGACA	0.408													5	167					0	0	1	0	0	A	69688649	G	A	69688649	3	1	428	1	0	0	0	0	1	0	0	0	2439	1349	47	2	1125	2	C8orf34	8	69688649	Missense_Mutation	SNP	G	TCGA-S9-A6WH-01A-12D-A33T-08	10284558	69688649	76675373	54	34621											
EYA1	2138	broad.mit.edu	37	8	72127688	72127688	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr8:72127688T>C	ENST00000340726.3	-	16	2170	c.1531A>G	c.(1531-1533)Aaa>Gaa	p.K511E	EYA1_ENST00000388741.2_Missense_Mutation_p.K477E|EYA1_ENST00000303824.7_Missense_Mutation_p.K505E|EYA1_ENST00000388740.3_Missense_Mutation_p.K478E|EYA1_ENST00000419131.1_Missense_Mutation_p.K476E|EYA1_ENST00000388743.2_Missense_Mutation_p.K510E|EYA1_ENST00000388742.4_Missense_Mutation_p.K511E	NM_000503.4	NP_000494.2	Q99502	EYA1_HUMAN	eyes absent homolog 1 (Drosophila)	511					double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity	p.K511*(1)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			AGCAGGACTTTCGCCAATGCT	0.338													9	258					0	0	1	0	0	C	72127688	T	C	72127688	3	2	428	1	0	0	0	0	1	0	0	0	5356	1792	62	3	259	3	EYA1	8	72127688	Missense_Mutation	SNP	T	TCGA-S9-A6WH-01A-12D-A33T-08	2439039	72127688	74236334	55	34622											
TMEM70	54968	broad.mit.edu	37	8	74893730	74893733	+	Frame_Shift_Del	DEL	GTTA	GTTA	-			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr8:74893730_74893733delGTTA	ENST00000312184.5	+	3	730_733	c.657_660delGTTA	c.(655-660)ctgttafs	p.LL219fs		NM_001040613.2|NM_017866.5	NP_001035703.1|NP_060336.3	Q9BUB7	TMM70_HUMAN	transmembrane protein 70	219					mitochondrial proton-transporting ATP synthase complex assembly	integral to mitochondrial membrane|mitochondrial inner membrane				breast(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)	8	Breast(64;0.0311)		Epithelial(68;0.0186)|BRCA - Breast invasive adenocarcinoma(89;0.0499)|all cancers(69;0.0564)			CAAAATCACTGTTAGTTAATCCAG	0.348													20	178	---	---	---	---						-	74893733	GTTA	-	74893730	7	5	428	1	0	1	0	1	0	0	0	0	16259	1364	48	0	675	0	TMEM70	8	74893730	Frame_Shift_Del	DEL	GTTA	TCGA-S9-A6WH-01A-12D-A33T-08	2766042	74893730	71470292	56	34623											
RAD54B	25788	broad.mit.edu	37	8	95412677	95412677	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr8:95412677C>T	ENST00000336148.5	-	7	1083	c.959G>A	c.(958-960)tGt>tAt	p.C320Y		NM_012415.3	NP_036547.1	O95073	FSBP_HUMAN	RAD54 homolog B (S. cerevisiae)	0					double-strand break repair via homologous recombination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA translocase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(10)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(36;4.5e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00217)			AATAGCTCCACATCTGCCATT	0.373								Direct reversal of damage;Homologous recombination					12	51					0	0	1	0	0	T	95412677	C	T	95412677	3	4	428	1	0	0	0	0	1	0	0	0	13044	478	17	2	1809	2	RAD54B	8	95412677	Missense_Mutation	SNP	C	TCGA-S9-A6WH-01A-12D-A33T-08	20518947	95412677	50951345	57	34624											
CYLC2	1539	broad.mit.edu	37	9	105767734	105767734	+	Missense_Mutation	SNP	A	A	T			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr9:105767734A>T	ENST00000374798.3	+	5	891	c.821A>T	c.(820-822)aAg>aTg	p.K274M	CYLC2_ENST00000487798.1_Missense_Mutation_p.K274M	NM_001340.3	NP_001331.1	Q14093	CYLC2_HUMAN	cylicin, basic protein of sperm head cytoskeleton 2	274	31 X 3 AA repeats of K-K-X.				cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)	41		all_hematologic(171;0.125)				AAGAAAGATAAGAAGAAGCCC	0.393													72	99					0	0	1	0	0	T	105767734	A	T	105767734	3	4	428	1	0	0	0	0	1	0	0	0	4165	72	3	5	839	5	CYLC2	9	105767734	Missense_Mutation	SNP	A	TCGA-S9-A6WH-01A-12D-A33T-08		105767734	35445697	58	34625											
ASB13	79754	broad.mit.edu	37	10	5693260	5693260	+	Missense_Mutation	SNP	A	A	C	rs139712171		TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr10:5693260A>C	ENST00000357700.6	-	3	324	c.298T>G	c.(298-300)Tgt>Ggt	p.C100G	ASB13_ENST00000479033.1_Intron	NM_024701.3	NP_078977.2	Q8WXK3	ASB13_HUMAN	ankyrin repeat and SOCS box containing 13	100					intracellular signal transduction		protein binding			NS(1)|endometrium(3)|lung(3)|ovary(1)	8				GBM - Glioblastoma multiforme(2;9.59e-09)		AGCTTCACACACTCGATGCTG	0.632													20	74					0	0	1	0	0	C	5693260	A	C	5693260	3	2	428	1	0	0	0	0	1	0	0	0	1016	159	6	5	554	5	ASB13	10	5693260	Missense_Mutation	SNP	A	TCGA-S9-A6WH-01A-12D-A33T-08		5693260	129841487	59	34626											
ANK3	288	broad.mit.edu	37	10	61835771	61835771	+	Missense_Mutation	SNP	C	C	T	rs143606308		TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr10:61835771C>T	ENST00000280772.2	-	37	5059	c.4868G>A	c.(4867-4869)cGa>cAa	p.R1623Q	ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)		Ser-rich.				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TGGAGAGGTTCGAGAGGAAAA	0.478													89	111					0	0	1	0	0	T	61835771	C	T	61835771	3	4	428	1	0	0	0	0	1	0	0	0	618	884	31	1	8606	1	ANK3	10	61835771	Missense_Mutation	SNP	C	TCGA-S9-A6WH-01A-12D-A33T-08	56142511	61835771	73698976	60	34627											
PSAP	5660	broad.mit.edu	37	10	73580004	73580006	+	In_Frame_Del	DEL	TTG	TTG	-			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr10:73580004_73580006delTTG	ENST00000394936.3	-	9	1143_1145	c.996_998delCAA	c.(994-999)aacaag>aag	p.N332del	PSAP_ENST00000394934.1_In_Frame_Del_p.N334del			P07602	SAP_HUMAN	prosaposin	332	Saposin B-type 3.				glycosphingolipid metabolic process|lipid transport|platelet activation|platelet degranulation	extracellular space|Golgi apparatus|integral to membrane|lysosomal lumen	enzyme activator activity|lipid binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	13						TACCTCAGTCTTGTTGTTGTCAA	0.557													11	178	---	---	---	---						-	73580006	TTG	-	73580004	7	5	428	1	0	1	0	1	0	0	0	0	12692	1609	56	0	600	0	PSAP	10	73580004	In_Frame_Del	DEL	TTG	TCGA-S9-A6WH-01A-12D-A33T-08	11744233	73580004	61954743	61	34628											
CYP2C9	1559	broad.mit.edu	37	10	96740964	96740964	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr10:96740964G>A	ENST00000260682.6	+	7	998	c.986G>A	c.(985-987)cGt>cAt	p.R329H		NM_000771.3	NP_000762.2	P11712	CP2C9_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 9	329					exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		Colorectal(252;0.0902)		all cancers(201;6.93e-05)	Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)	GAGATTGAACGTGTGATTGGC	0.463													17	248					0	0	1	0	0	A	96740964	G	A	96740964	3	1	428	1	0	0	0	0	1	0	0	0	4191	1145	40	1	1012	1	CYP2C9	10	96740964	Missense_Mutation	SNP	G	TCGA-S9-A6WH-01A-12D-A33T-08	23160960	96740964	38793783	62	34629											
ARMS2	387715	broad.mit.edu	37	10	124214434	124214435	+	In_Frame_Ins	INS	-	-	CAT			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr10:124214434_124214435insCAT	ENST00000528446.1	+	1	266_267	c.191_192insCAT	c.(190-195)tccatg>tcCATcatg	p.64_65SM>SIM		NM_001099667.1	NP_001093137.1	P0C7Q2	ARMS2_HUMAN	age-related maculopathy susceptibility 2	64					retina homeostasis	mitochondrion|photoreceptor inner segment				ovary(1)	1		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				TTATCACACTCCATGATCCCAG	0.54													84	97	---	---	---	---						CAT	124214435	-	CAT	124214434	7	5	428	1	0	1	1	0	0	0	0	0	963	855	30	0	193	0	ARMS2	10	124214434	In_Frame_Ins	INS	-	TCGA-S9-A6WH-01A-12D-A33T-08	27473470	124214434	11320313	63	34630											
KRTAP5-6	440023	broad.mit.edu	37	11	1718511	1718511	+	Silent	SNP	C	C	T			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr11:1718511C>T	ENST00000382160.1	+	1	87	c.36C>T	c.(34-36)tcC>tcT	p.S12S		NM_001012416.1	NP_001012416.1	Q6L8G9	KRA56_HUMAN	keratin associated protein 5-6	12						keratin filament				endometrium(1)|large_intestine(2)|lung(6)|skin(1)	10		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		GCTGTGGCTCCGGCTGTGGGG	0.642													21	360					0	0	1	0	0	T	1718511	C	T	1718511	2	4	428	1	0	0	0	0	0	0	0	1	8604	639	23	1		1	KRTAP5-6	11	1718511	Silent	SNP	C	TCGA-S9-A6WH-01A-12D-A33T-08		1718511	133288005	64	34631											
OR52I1	390037	broad.mit.edu	37	11	4615307	4615307	+	Silent	SNP	T	T	C			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr11:4615307T>C	ENST00000450052.2	+	2	111	c.111T>C	c.(109-111)ccT>ccC	p.P37P	OR52I1_ENST00000530443.2_Silent_p.P13P			Q8NGK6	O52I1_HUMAN	olfactory receptor, family 52, subfamily I, member 1	13					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	15		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;7.98e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGGAAACCCCTGCCTCCTTCC	0.473													68	330					0	0	1	0	0	C	4615307	T	C	4615307	2	2	428	1	0	0	0	0	0	0	0	1	11168	1567	55	3		3	OR52I1	11	4615307	Silent	SNP	T	TCGA-S9-A6WH-01A-12D-A33T-08	2896796	4615307	130391209	65	34632											
OR51T1	401665	broad.mit.edu	37	11	4904034	4904034	+	Missense_Mutation	SNP	G	G	A	rs151076376	byFrequency	TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr11:4904034G>A	ENST00000380378.1	+	1	986	c.986G>A	c.(985-987)cGc>cAc	p.R329H	MMP26_ENST00000477339.1_Intron|OR51T1_ENST00000322049.1_Missense_Mutation_p.R302H|MMP26_ENST00000380390.1_Intron	NM_001004759.1	NP_001004759.1	Q8NGJ9	O51T1_HUMAN	olfactory receptor, family 51, subfamily T, member 1	302					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R302L(1)|p.R329L(1)		NS(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		AAGACAATCCGCCAGGCTATG	0.483													11	189					0	0	1	0	0	A	4904034	G	A	4904034	3	1	428	1	0	0	0	0	1	0	0	0	11154	1087	38	1	988	1	OR51T1	11	4904034	Missense_Mutation	SNP	G	TCGA-S9-A6WH-01A-12D-A33T-08	288727	4904034	130102482	66	34633											
DYNC2H1	79659	broad.mit.edu	37	11	103052532	103052532	+	Missense_Mutation	SNP	A	A	T			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr11:103052532A>T	ENST00000375735.2	+	40	6538	c.6394A>T	c.(6394-6396)Aat>Tat	p.N2132Y	DYNC2H1_ENST00000398093.3_Missense_Mutation_p.N2132Y|DYNC2H1_ENST00000334267.7_Intron	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	2132	AAA 2 (By similarity).				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		TTGGTTGAGGAATCAGCCTGC	0.289													7	14					0	0	1	0	0	T	103052532	A	T	103052532	3	4	428	1	0	0	0	0	1	0	0	0	4872	246	9	5	6552	5	DYNC2H1	11	103052532	Missense_Mutation	SNP	A	TCGA-S9-A6WH-01A-12D-A33T-08	98148498	103052532	31953984	67	34634											
EXPH5	23086	broad.mit.edu	37	11	108384958	108384958	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr11:108384958G>A	ENST00000265843.4	-	6	1386	c.1276C>T	c.(1276-1278)Cgt>Tgt	p.R426C	EXPH5_ENST00000443411.1_Missense_Mutation_p.R238C|EXPH5_ENST00000524840.1_5'UTR|EXPH5_ENST00000428840.1_Missense_Mutation_p.R350C|EXPH5_ENST00000525344.1_Missense_Mutation_p.R419C	NM_015065.2	NP_055880	Q149M6	Q149M6_HUMAN	exophilin 5	426					intracellular protein transport		Rab GTPase binding	p.R426C(1)		breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		AAACTAACACGTTGGTAAACA	0.413													8	377					0	0	1	0	0	A	108384958	G	A	108384958	3	1	428	1	0	0	0	0	1	0	0	0	5350	1145	40	1	4697	1	EXPH5	11	108384958	Missense_Mutation	SNP	G	TCGA-S9-A6WH-01A-12D-A33T-08	5332426	108384958	26621558	68	34635											
SORL1	6653	broad.mit.edu	37	11	121414352	121414352	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr11:121414352G>A	ENST00000260197.7	+	13	1910	c.1781G>A	c.(1780-1782)aGc>aAc	p.S594N	SORL1_ENST00000532451.1_3'UTR	NM_003105.5	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	594					cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		GGGGAGAAGAGCACTGTCTTC	0.517													28	274					0	0	1	0	0	A	121414352	G	A	121414352	3	1	428	1	0	0	0	0	1	0	0	0	14988	971	34	2	1831	2	SORL1	11	121414352	Missense_Mutation	SNP	G	TCGA-S9-A6WH-01A-12D-A33T-08	13029394	121414352	13592164	69	34636											
SLC6A13	6540	broad.mit.edu	37	12	330125	330125	+	Missense_Mutation	SNP	A	A	T			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr12:330125A>T	ENST00000343164.4	-	15	1850	c.1798T>A	c.(1798-1800)Tct>Act	p.S600T	SLC6A13_ENST00000445055.2_Missense_Mutation_p.S508T	NM_016615.4	NP_057699.2	Q9NSD5	S6A13_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 13	600					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1)	28	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)			TAGCAGTGAGACTCTAGCTCT	0.662													6	48					0	0	1	0	0	T	330125	A	T	330125	3	4	428	1	0	0	0	0	1	0	0	0	14731	275	10	5	14	5	SLC6A13	12	330125	Missense_Mutation	SNP	A	TCGA-S9-A6WH-01A-12D-A33T-08		330125	133521770	70	34637											
VDR	7421	broad.mit.edu	37	12	48272841	48272841	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr12:48272841T>C	ENST00000229022.3	-	4	337	c.56A>G	c.(55-57)aAc>aGc	p.N19S	VDR_ENST00000535672.1_5'UTR|VDR_ENST00000549336.1_Missense_Mutation_p.N19S|VDR_ENST00000550325.1_Missense_Mutation_p.N69S|VDR_ENST00000395324.2_Missense_Mutation_p.N19S	NM_001017535.1	NP_001017535.1	P11473	VDR_HUMAN	vitamin D (1,25- dihydroxyvitamin D3) receptor	19					decidualization|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of vitamin D 24-hydroxylase activity|regulation of calcidiol 1-monooxygenase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	retinoid X receptor binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|vitamin D3 receptor activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(3)|skin(2)	22		Acute lymphoblastic leukemia(13;0.109)|all_hematologic(14;0.214)		GBM - Glioblastoma multiforme(48;0.17)	Calcidiol(DB00146)|Calcipotriol(DB02300)|Calcitriol(DB00136)|Dihydrotachysterol(DB01070)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)	CCGGGGCACGTTCCGGTCAAA	0.587													13	106					0	0	1	0	0	C	48272841	T	C	48272841	3	2	428	1	0	0	0	0	1	0	0	0	17209	1725	60	3	1259	3	VDR	12	48272841	Missense_Mutation	SNP	T	TCGA-S9-A6WH-01A-12D-A33T-08	47942716	48272841	85579054	71	34638											
SLC17A8	246213	broad.mit.edu	37	12	100813689	100813689	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr12:100813689G>A	ENST00000323346.5	+	12	1835	c.1522G>A	c.(1522-1524)Gag>Aag	p.E508K	SLC17A8_ENST00000552697.1_3'UTR|SLC17A8_ENST00000392989.3_Missense_Mutation_p.E458K	NM_001145288.1|NM_139319.2	NP_001138760.1|NP_647480.1	Q8NDX2	VGLU3_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 8	508					neurotransmitter transport|sensory perception of sound|sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	44						GGAGAAACAGGAGTGGGCTGA	0.483													4	107					0	0	1	0	0	A	100813689	G	A	100813689	3	1	428	1	0	0	0	0	1	0	0	0	14478	1175	41	2	1568	2	SLC17A8	12	100813689	Missense_Mutation	SNP	G	TCGA-S9-A6WH-01A-12D-A33T-08	52540848	100813689	33038206	72	34639											
SERP2	387923	broad.mit.edu	37	13	44953804	44953804	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr13:44953804G>A	ENST00000379179.3	+	2	296	c.112G>A	c.(112-114)Gga>Aga	p.G38R		NM_001010897.1	NP_001010897.1	Q8N6R1	SERP2_HUMAN	stress-associated endoplasmic reticulum protein family member 2	38					protein transport|transmembrane transport	endoplasmic reticulum membrane|integral to membrane				large_intestine(1)	1		all_hematologic(4;1.49e-06)|Acute lymphoblastic leukemia(4;1.5e-06)|Lung NSC(96;0.00043)|Breast(139;0.0044)|Prostate(109;0.0137)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)		GBM - Glioblastoma multiforme(144;0.00026)|BRCA - Breast invasive adenocarcinoma(63;0.123)		ATATCCTGTGGGACCATGGCT	0.413													17	175					0	0	1	0	0	A	44953804	G	A	44953804	3	1	428	1	0	0	0	0	1	0	0	0	14139	1233	43	2	118	2	SERP2	13	44953804	Missense_Mutation	SNP	G	TCGA-S9-A6WH-01A-12D-A33T-08		44953804	70216074	73	34640											
THSD1	55901	broad.mit.edu	37	13	52972267	52972267	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr13:52972267T>C	ENST00000349258.4	-	3	665	c.121A>G	c.(121-123)Aca>Gca	p.T41A	THSD1_ENST00000258613.4_Missense_Mutation_p.T41A|THSD1_ENST00000544466.1_Intron	NM_199263.2	NP_954872.1	Q9NS62	THSD1_HUMAN	thrombospondin, type I, domain containing 1	41						extracellular region|integral to membrane|intracellular membrane-bounded organelle				breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.8e-08)		ACATACACTGTGTCGTTGCTT	0.438													27	216					0	0	1	0	0	C	52972267	T	C	52972267	3	2	428	1	0	0	0	0	1	0	0	0	15937	1696	59	3	2449	3	THSD1	13	52972267	Missense_Mutation	SNP	T	TCGA-S9-A6WH-01A-12D-A33T-08	8018463	52972267	62197611	74	34641											
CRIP2	1397	broad.mit.edu	37	14	105945493	105945493	+	Nonsense_Mutation	SNP	G	G	A			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr14:105945493G>A	ENST00000329146.4	+	6	1151	c.438G>A	c.(436-438)tgG>tgA	p.W146*	CRIP2_ENST00000548989.1_3'UTR|CRIP2_ENST00000483017.3_Nonsense_Mutation_p.W220*	NM_001312.3	NP_001303.1	P52943	CRIP2_HUMAN	cysteine-rich protein 2	146	LIM zinc-binding 2.						zinc ion binding			lung(2)	2		Melanoma(154;0.226)	OV - Ovarian serous cystadenocarcinoma(23;0.00897)|Epithelial(46;0.026)	Epithelial(152;0.235)		GCAAGGATTGGCACCGGCCCT	0.766													3	35					0	0	1	0	0	A	105945493	G	A	105945493	4	1	428	1	0	0	0	0	0	1	0	0	3898	1212	42	2	460	2	CRIP2	14	105945493	Nonsense_Mutation	SNP	G	TCGA-S9-A6WH-01A-12D-A33T-08		105945493	1404047	75	34642											
SPTBN5	51332	broad.mit.edu	37	15	42180130	42180130	+	Missense_Mutation	SNP	G	G	C			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr15:42180130G>C	ENST00000320955.6	-	5	882	c.655C>G	c.(655-657)Cac>Gac	p.H219D		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	219	Actin-binding.|CH 2.				actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		TCACACCTGTGGGCATGGATG	0.602													7	22					0	0	1	0	0	C	42180130	G	C	42180130	3	2	428	1	0	0	0	0	1	0	0	0	15178	1348	47	5	10625	5	SPTBN5	15	42180130	Missense_Mutation	SNP	G	TCGA-S9-A6WH-01A-12D-A33T-08		42180130	60351262	76	34643											
PLA2G4F	255189	broad.mit.edu	37	15	42438416	42438416	+	Silent	SNP	G	G	A			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr15:42438416G>A	ENST00000397272.3	-	14	1540	c.1449C>T	c.(1447-1449)gaC>gaT	p.D483D	PLA2G4F_ENST00000382396.4_Silent_p.D481D	NM_213600.3	NP_998765.3	Q68DD2	PA24F_HUMAN	phospholipase A2, group IVF	481	PLA2c.				phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.97e-07)		CCTCCTGTTGGTCAGACAGCT	0.612													5	104					0	0	1	0	0	A	42438416	G	A	42438416	2	1	428	1	0	0	0	0	0	0	0	1	12054	1252	44	2		2	PLA2G4F	15	42438416	Silent	SNP	G	TCGA-S9-A6WH-01A-12D-A33T-08	258286	42438416	60092976	77	34644											
MAP1A	4130	broad.mit.edu	37	15	43822061	43822061	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr15:43822061A>G	ENST00000382031.1	+	6	8994	c.8963A>G	c.(8962-8964)aAt>aGt	p.N2988S	MAP1A_ENST00000300231.5_Missense_Mutation_p.N2750S|MAP1A_ENST00000399453.1_Missense_Mutation_p.N2750S			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	2750						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	TGGGGGGAGAATCTTCAGGTG	0.557													5	69					0	0	1	0	0	G	43822061	A	G	43822061	3	3	428	1	0	0	0	0	1	0	0	0	9277	101	4	3	8255	3	MAP1A	15	43822061	Missense_Mutation	SNP	A	TCGA-S9-A6WH-01A-12D-A33T-08	1383645	43822061	58709331	78	34645											
CEP152	22995	broad.mit.edu	37	15	49097830	49097830	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr15:49097830C>T	ENST00000380950.2	-	2	204	c.17G>A	c.(16-18)gGc>gAc	p.G6D	CEP152_ENST00000325747.5_Missense_Mutation_p.G6D|CEP152_ENST00000399334.3_Missense_Mutation_p.G6D	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	6					centrosome duplication|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein kinase binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		TGCCACACTGCCAAAGTCTAA	0.398													7	144					0	0	1	0	0	T	49097830	C	T	49097830	3	4	428	1	0	0	0	0	1	0	0	0	3270	739	26	2	5047	2	CEP152	15	49097830	Missense_Mutation	SNP	C	TCGA-S9-A6WH-01A-12D-A33T-08	5275769	49097830	53433562	79	34646											
RFX7	64864	broad.mit.edu	37	15	56387780	56387780	+	Frame_Shift_Del	DEL	T	T	-			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr15:56387780delT	ENST00000423270.1	-	9	2145	c.2146delA	c.(2146-2148)agcfs	p.S716fs	RFX7_ENST00000422057.1_Frame_Shift_Del_p.S619fs|RFX7_ENST00000559447.2_Frame_Shift_Del_p.S619fs|RFX7_ENST00000317318.6_Frame_Shift_Del_p.S716fs	NM_022841.5	NP_073752.5	Q2KHR2	RFX7_HUMAN	regulatory factor X, 7	619					regulation of transcription, DNA-dependent	nucleus	DNA binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						GATACCTTGCTAGGAATCTGA	0.438													34	119	---	---	---	---						-	56387780	T	-	56387780	7	5	428	1	0	1	0	1	0	0	0	0	13320	1522	53	0	2240	0	RFX7	15	56387780	Frame_Shift_Del	DEL	T	TCGA-S9-A6WH-01A-12D-A33T-08	7289950	56387780	46143612	80	34647											
TCF12	6938	broad.mit.edu	37	15	57523426	57523427	+	Frame_Shift_Ins	INS	-	-	T			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr15:57523426_57523427insT	ENST00000267811.5	+	9	960_961	c.656_657insT	c.(655-660)agtatgfs	p.M220fs	TCF12_ENST00000333725.5_Frame_Shift_Ins_p.M220fs|TCF12_ENST00000557843.1_Frame_Shift_Ins_p.M220fs|TCF12_ENST00000543579.1_Frame_Shift_Ins_p.M50fs|TCF12_ENST00000343827.3_Frame_Shift_Ins_p.M50fs|TCF12_ENST00000537840.1_Frame_Shift_Ins_p.V30fs|TCF12_ENST00000560764.1_3'UTR|TCF12_ENST00000452095.2_Frame_Shift_Ins_p.M216fs|TCF12_ENST00000438423.2_Frame_Shift_Ins_p.M220fs	NM_003205.3|NM_207038.1	NP_003196.1|NP_996921.1	Q99081	HTF4_HUMAN	transcription factor 12	220					immune response|muscle organ development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity		TCF12/NR4A3(2)	breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	36		Colorectal(260;0.0907)		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)		CCACCAACCAGTATGTTCGCTA	0.366			T	TEC	extraskeletal myxoid chondrosarcoma								45	233	---	---	---	---						T	57523427	-	T	57523426	7	5	428	1	0	1	1	0	0	0	0	0	15747	1029	36	0	759	0	TCF12	15	57523426	Frame_Shift_Ins	INS	-	TCGA-S9-A6WH-01A-12D-A33T-08	1135646	57523426	45007966	81	34648											
BAIAP3	8938	broad.mit.edu	37	16	1395342	1395342	+	Nonsense_Mutation	SNP	G	G	A			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr16:1395342G>A	ENST00000324385.5	+	22	2296	c.2138G>A	c.(2137-2139)tGg>tAg	p.W713*	BAIAP3_ENST00000562208.1_Nonsense_Mutation_p.W655*|BAIAP3_ENST00000397488.2_Nonsense_Mutation_p.W695*|BAIAP3_ENST00000426824.3_Nonsense_Mutation_p.W678*|BAIAP3_ENST00000421665.2_Nonsense_Mutation_p.W642*|BAIAP3_ENST00000397489.1_Nonsense_Mutation_p.W695*|BAIAP3_ENST00000568887.1_Nonsense_Mutation_p.W650*	NM_003933.4	NP_003924.2	O94812	BAIP3_HUMAN	BAI1-associated protein 3	713	MHD1.				G-protein coupled receptor protein signaling pathway|neurotransmitter secretion		protein C-terminus binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(25)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42		Hepatocellular(780;0.0893)				CAGGCCAAGTGGAGGCTTCAG	0.682													5	81					0	0	1	0	0	A	1395342	G	A	1395342	4	1	428	1	0	0	0	0	0	1	0	0	1302	1357	47	2	2224	2	BAIAP3	16	1395342	Nonsense_Mutation	SNP	G	TCGA-S9-A6WH-01A-12D-A33T-08		1395342	88959411	82	34649											
SCNN1B	6338	broad.mit.edu	37	16	23392080	23392080	+	Silent	SNP	G	G	A			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr16:23392080G>A	ENST00000343070.2	+	13	2057	c.1881G>A	c.(1879-1881)ccG>ccA	p.P627P	SCNN1B_ENST00000307331.5_Silent_p.P672P|SCNN1B_ENST00000568085.1_Silent_p.P591P|SCNN1B_ENST00000568923.1_Silent_p.P600P	NM_000336.2	NP_000327.2	P51168	SCNNB_HUMAN	sodium channel, non-voltage-gated 1, beta subunit	627					excretion|sensory perception of taste	apical plasma membrane	ligand-gated sodium channel activity|WW domain binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(48;0.0465)	Amiloride(DB00594)|Triamterene(DB00384)	GTCTGCAGCCGCTGGACGTCA	0.677													14	225					0	0	1	0	0	A	23392080	G	A	23392080	2	1	428	1	0	0	0	0	0	0	0	1	13982	1074	38	1		1	SCNN1B	16	23392080	Silent	SNP	G	TCGA-S9-A6WH-01A-12D-A33T-08	21996738	23392080	66962673	83	34650											
SULT1A2	6799	broad.mit.edu	37	16	28606983	28606983	+	Silent	SNP	C	C	T			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr16:28606983C>T	ENST00000533150.1	-	2	1278	c.162G>A	c.(160-162)gtG>gtA	p.V54V	SULT1A2_ENST00000395630.1_Silent_p.V54V|SULT1A2_ENST00000335715.4_Silent_p.V54V			P50226	ST1A2_HUMAN	sulfotransferase family, cytosolic, 1A, phenol-preferring, member 2	54					3'-phosphoadenosine 5'-phosphosulfate metabolic process|amine biosynthetic process|catecholamine metabolic process|steroid metabolic process|sulfation|xenobiotic metabolic process	cytosol	aryl sulfotransferase activity|flavonol 3-sulfotransferase activity			NS(2)|breast(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(3)|skin(2)	14						GAATCTGGCTCACCCAGGTGG	0.607													12	163					0	0	1	0	0	T	28606983	C	T	28606983	2	4	428	1	0	0	0	0	0	0	0	1	15429	813	29	2		2	SULT1A2	16	28606983	Silent	SNP	C	TCGA-S9-A6WH-01A-12D-A33T-08	5214903	28606983	61747770	84	34651											
CORO1A	11151	broad.mit.edu	37	16	30199764	30199764	+	Missense_Mutation	SNP	G	G	A	rs61736366		TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr16:30199764G>A	ENST00000219150.5	+	10	1453	c.1148G>A	c.(1147-1149)cGg>cAg	p.R383Q	CORO1A_ENST00000570045.1_Missense_Mutation_p.R383Q|CORO1A_ENST00000565497.1_Intron	NM_001193333.2|NM_007074.3	NP_001180262.1|NP_009005.1	P31146	COR1A_HUMAN	coronin, actin binding protein, 1A	383					cell-substrate adhesion|innate immune response|leukocyte chemotaxis|negative regulation of actin nucleation|phagolysosome assembly|positive chemotaxis|regulation of cell shape|uropod organization	actin filament|cortical actin cytoskeleton|lamellipodium|phagocytic cup|phagocytic vesicle membrane	actin filament binding|phosphatidylinositol 3-kinase binding|protein C-terminus binding|protein homodimerization activity			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	9						CTGGGGGGTCGGGATGCTGGG	0.697													23	193					0	0	1	0	0	A	30199764	G	A	30199764	3	1	428	1	0	0	0	0	1	0	0	0	3776	1116	39	1	1182	1	CORO1A	16	30199764	Missense_Mutation	SNP	G	TCGA-S9-A6WH-01A-12D-A33T-08	1592781	30199764	60154989	85	34652											
RFWD3	55159	broad.mit.edu	37	16	74695259	74695259	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr16:74695259T>C	ENST00000361070.4	-	2	186	c.89A>G	c.(88-90)cAa>cGa	p.Q30R	RFWD3_ENST00000571750.1_Missense_Mutation_p.Q30R	NM_018124.3	NP_060594.3	Q6PCD5	RFWD3_HUMAN	ring finger and WD repeat domain 3	30					DNA repair|mitotic cell cycle G1/S transition DNA damage checkpoint|response to ionizing radiation	nucleus	MDM2 binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	26						TGGTCCCCCTTGGCTGCTGGC	0.567													13	325					0	0	1	0	0	C	74695259	T	C	74695259	3	2	428	1	0	0	0	0	1	0	0	0	13313	1812	63	3	2283	3	RFWD3	16	74695259	Missense_Mutation	SNP	T	TCGA-S9-A6WH-01A-12D-A33T-08	44495495	74695259	15659494	86	34653											
POLR2A	5430	broad.mit.edu	37	17	7406572	7406572	+	Silent	SNP	G	G	A			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr17:7406572G>A	ENST00000322644.6	+	17	3288	c.2889G>A	c.(2887-2889)cgG>cgA	p.R963R		NM_000937.4	NP_000928	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	963					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				GGGAGGATCGGGAGGTGCTCA	0.602													6	125					0	0	1	0	0	A	7406572	G	A	7406572	2	1	428	1	0	0	0	0	0	0	0	1	12262	1219	43	2		2	POLR2A	17	7406572	Silent	SNP	G	TCGA-S9-A6WH-01A-12D-A33T-08		7406572	73788638	87	34654											
MYO18A	399687	broad.mit.edu	37	17	27442064	27442064	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr17:27442064G>A	ENST00000527372.1	-	14	2552	c.2372C>T	c.(2371-2373)cCg>cTg	p.P791L	MYO18A_ENST00000531253.1_Missense_Mutation_p.P791L|MYO18A_ENST00000354329.4_Missense_Mutation_p.P791L|MYO18A_ENST00000533112.1_Missense_Mutation_p.P791L	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	791	Myosin head-like.				anti-apoptosis|DNA metabolic process	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity			NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			CTGGAAGCCCGGGGTGTCGAC	0.637													6	64					0	0	1	0	0	A	27442064	G	A	27442064	3	1	428	1	0	0	0	0	1	0	0	0	10113	1116	39	1	3908	1	MYO18A	17	27442064	Missense_Mutation	SNP	G	TCGA-S9-A6WH-01A-12D-A33T-08	20035492	27442064	53753146	88	34655											
SEC14L1	6397	broad.mit.edu	37	17	75205560	75205560	+	Splice_Site	SNP	T	T	C			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr17:75205560T>C	ENST00000413679.2	+	14	1914		c.e14+2		SEC14L1_ENST00000431431.2_Splice_Site|SEC14L1_ENST00000585618.1_Splice_Site|SEC14L1_ENST00000430767.4_Splice_Site|SEC14L1_ENST00000443798.4_Splice_Site|SEC14L1_ENST00000436233.4_Splice_Site|SEC14L1_ENST00000591437.1_Splice_Site|SEC14L1_ENST00000392476.2_Splice_Site	NM_001143998.1|NM_001143999.1|NM_003003.3	NP_001137470|NP_001137471|NP_002994	Q92503	S14L1_HUMAN	SEC14-like 1 (S. cerevisiae)						transport	Golgi apparatus|integral to membrane	binding			NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(2)	31						CCACATGAGGTACGTCCTCCG	0.612													10	36					0	0	1	0	0	C	75205560	T	C	75205560	5	2	428	1	0	0	0	0	0	0	1	0	14035	1652	57	3	1659	3	SEC14L1	17	75205560	Splice_Site	SNP	T	TCGA-S9-A6WH-01A-12D-A33T-08	47763496	75205560	5989650	89	34656											
CIC	23152	broad.mit.edu	37	19	42791758	42791758	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr19:42791758G>A	ENST00000572681.2	+	6	3439	c.3371G>A	c.(3370-3372)cGg>cAg	p.R1124Q	CIC_ENST00000575354.2_Missense_Mutation_p.R215Q|CIC_ENST00000160740.3_Missense_Mutation_p.R215Q			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	215	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	p.R215Q(2)		autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				AAGCGGCACCGGGCCCTGGTC	0.612			"Mis, F, S"		oligodendroglioma								68	6					0	0	1	0	0	A	42791758	G	A	42791758	3	1	428	1	0	0	0	0	1	0	0	0	3446	1116	39	1	662	1	CIC	19	42791758	Missense_Mutation	SNP	G	TCGA-S9-A6WH-01A-12D-A33T-08		42791758	16337225	90	34657											
MYH14	79784	broad.mit.edu	37	19	50784917	50784917	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr19:50784917C>T	ENST00000440075.2	+	33	4404	c.4357C>T	c.(4357-4359)Cgc>Tgc	p.R1453C	MYH14_ENST00000262269.8_Missense_Mutation_p.R1453C|MYH14_ENST00000376970.2_Missense_Mutation_p.R1445C|MYH14_ENST00000601313.1_Missense_Mutation_p.R1453C|MYH14_ENST00000596571.1_Missense_Mutation_p.R1412C|MYH14_ENST00000598205.1_Missense_Mutation_p.R1420C|MYH14_ENST00000425460.1_Missense_Mutation_p.R1420C			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	1412					axon guidance|regulation of cell shape	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		GGAGGCACGGCGCCGGGCAGC	0.726													8	1					0	0	1	0	0	T	50784917	C	T	50784917	3	4	428	1	0	0	0	0	1	0	0	0	10081	768	27	1	4483	1	MYH14	19	50784917	Missense_Mutation	SNP	C	TCGA-S9-A6WH-01A-12D-A33T-08	7993159	50784917	8344066	91	34658											
PABPC1L	80336	broad.mit.edu	37	20	43561000	43561000	+	Silent	SNP	A	A	G			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr20:43561000A>G	ENST00000255136.3	+	9	1339	c.1257A>G	c.(1255-1257)gcA>gcG	p.A419A	PABPC1L_ENST00000372819.1_5'UTR|PABPC1L_ENST00000490798.1_Intron|PABPC1L_ENST00000372824.1_5'UTR|PABPC1L_ENST00000217073.2_Silent_p.A419A|PABPC1L_ENST00000537323.1_Intron	NM_001124756.1	NP_001118228.1	Q4VXU2	PAP1L_HUMAN	poly(A) binding protein, cytoplasmic 1-like	419	Pro-rich.						nucleotide binding|RNA binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	20						CCCAGGCTGCATACTATGGCT	0.622													21	99					0	0	1	0	0	G	43561000	A	G	43561000	2	3	428	1	0	0	0	0	0	0	0	1	11411	204	8	3		3	PABPC1L	20	43561000	Silent	SNP	A	TCGA-S9-A6WH-01A-12D-A33T-08		43561000	19464520	92	34659											
CCT8L2	150160	broad.mit.edu	37	22	17073095	17073095	+	Silent	SNP	G	G	A			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr22:17073095G>A	ENST00000359963.3	-	1	605	c.346C>T	c.(346-348)Ctg>Ttg	p.L116L		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	116					cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity			breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				GCCTGTTCCAGCAAGGCTTCC	0.662													30	47					0	0	1	0	0	A	17073095	G	A	17073095	2	1	428	1	0	0	0	0	0	0	0	1	2983	962	34	2		2	CCT8L2	22	17073095	Silent	SNP	G	TCGA-S9-A6WH-01A-12D-A33T-08		17073095	34231471	93	34660											
CYTH4	27128	broad.mit.edu	37	22	37708164	37708164	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr22:37708164G>A	ENST00000248901.6	+	12	1248	c.1061G>A	c.(1060-1062)cGc>cAc	p.R354H		NM_013385.3	NP_037517.1	Q9UIA0	CYH4_HUMAN	cytohesin 4	354	PH.				regulation of ARF protein signal transduction|regulation of cell adhesion	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(2)|stomach(1)	15						GAATCGTACCGCATCTCAGCC	0.622													50	61					0	0	1	0	0	A	37708164	G	A	37708164	3	1	428	1	0	0	0	0	1	0	0	0	4229	1087	38	1	1107	1	CYTH4	22	37708164	Missense_Mutation	SNP	G	TCGA-S9-A6WH-01A-12D-A33T-08	20635069	37708164	13596402	94	34661											
MAGEB6	158809	broad.mit.edu	37	X	26212566	26212566	+	Silent	SNP	G	G	A			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chrX:26212566G>A	ENST00000379034.1	+	2	752	c.603G>A	c.(601-603)acG>acA	p.T201T		NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	201	MAGE.									breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						AGGCGTGCACGTTGGCGCAAT	0.483													9	222					0	0	1	0	0	A	26212566	G	A	26212566	2	1	428	1	0	0	0	0	0	0	0	1	9229	1132	40	1		1	MAGEB6	23	26212566	Silent	SNP	G	TCGA-S9-A6WH-01A-12D-A33T-08		26212566	129057994	95	34662											
HUWE1	10075	broad.mit.edu	37	X	53644041	53644041	+	Missense_Mutation	SNP	C	C	A			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chrX:53644041C>A	ENST00000342160.3	-	20	2304	c.1847G>T	c.(1846-1848)cGa>cTa	p.R616L	HUWE1_ENST00000262854.6_Missense_Mutation_p.R616L|HUWE1_ENST00000218328.8_Missense_Mutation_p.R616L			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	616					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						CTGAAGACCTCGGGCATTCAA	0.478													26	69					4.72057e-08	4.92405e-08	1	1	0	A	53644041	C	A	53644041	3	1	428	1	0	0	0	0	1	0	0	0	7505	884	31	5	11533	5	HUWE1	23	53644041	Missense_Mutation	SNP	C	TCGA-S9-A6WH-01A-12D-A33T-08	27431475	53644041	101626519	96	34663											
CYSLTR1	10800	broad.mit.edu	37	X	77528954	77528954	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chrX:77528954C>T	ENST00000373304.3	-	3	582	c.290G>A	c.(289-291)cGc>cAc	p.R97H		NM_001282187.1|NM_001282188.1|NM_006639.3	NP_001269116.1|NP_001269117.1|NP_006630.1	Q9Y271	CLTR1_HUMAN	cysteinyl leukotriene receptor 1	97					elevation of cytosolic calcium ion concentration|respiratory gaseous exchange	integral to plasma membrane|membrane fraction	leukotriene receptor activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	14					Amlexanox(DB01025)|Cinalukast(DB00587)|Montelukast(DB00471)|Nedocromil(DB00716)|Pranlukast(DB01411)|Zafirlukast(DB00549)	GGTGCTGAGGCGGCACAAGAA	0.443													16	73					0	0	1	0	0	T	77528954	C	T	77528954	3	4	428	1	0	0	0	0	1	0	0	0	4224	768	27	1	727	1	CYSLTR1	23	77528954	Missense_Mutation	SNP	C	TCGA-S9-A6WH-01A-12D-A33T-08	23884913	77528954	77741606	97	34664											
SYTL4	94121	broad.mit.edu	37	X	99934381	99934381	+	Missense_Mutation	SNP	C	C	A			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chrX:99934381C>A	ENST00000455616.1	-	16	1933	c.1587G>T	c.(1585-1587)caG>caT	p.Q529H	SYTL4_ENST00000276141.6_Missense_Mutation_p.Q529H|SYTL4_ENST00000263033.5_Missense_Mutation_p.Q529H|SYTL4_ENST00000372989.1_Missense_Mutation_p.Q529H|SYTL4_ENST00000454200.2_Missense_Mutation_p.Q531H			Q96C24	SYTL4_HUMAN	synaptotagmin-like 4	529	C2 2.				exocytosis|intracellular protein transport	extrinsic to membrane|plasma membrane|synaptic vesicle|transport vesicle membrane	neurexin binding|phospholipid binding|Rab GTPase binding|transporter activity|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(2)	27					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TGATCCACACCTGGAGCTCTC	0.512													38	107					8.16277e-20	8.664e-20	1	1	0	A	99934381	C	A	99934381	3	1	428	1	0	0	0	0	1	0	0	0	15542	680	24	4	440	4	SYTL4	23	99934381	Missense_Mutation	SNP	C	TCGA-S9-A6WH-01A-12D-A33T-08	22405427	99934381	55336179	98	34665											
GPRASP2	114928	broad.mit.edu	37	X	101972002	101972002	+	Missense_Mutation	SNP	G	G	C			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chrX:101972002G>C	ENST00000543253.1	+	5	3124	c.2205G>C	c.(2203-2205)aaG>aaC	p.K735N	GPRASP2_ENST00000332262.5_Missense_Mutation_p.K735N|GPRASP2_ENST00000535209.1_Missense_Mutation_p.K735N	NM_001004051.3|NM_001184874.2|NM_001184876.2	NP_001004051.1|NP_001171803.1|NP_001171805.1			G protein-coupled receptor associated sorting protein 2											breast(3)|endometrium(5)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	30						CGAGAACGAAGTTTCACGTTC	0.393													27	297					0	0	1	0	0	C	101972002	G	C	101972002	3	2	428	1	0	0	0	0	1	0	0	0	6764	1020	36	4	2207	4	GPRASP2	23	101972002	Missense_Mutation	SNP	G	TCGA-S9-A6WH-01A-12D-A33T-08	2037621	101972002	53298558	99	34666											
SLC25A43	203427	broad.mit.edu	37	X	118540573	118540573	+	Silent	SNP	A	A	T			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chrX:118540573A>T	ENST00000217909.7	+	2	770	c.426A>T	c.(424-426)ccA>ccT	p.P142P	SLC25A43_ENST00000336249.7_Silent_p.P142P|SLC25A43_ENST00000488158.1_3'UTR	NM_145305.2	NP_660348.2	Q8WUT9	S2543_HUMAN	solute carrier family 25, member 43	142					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|skin(1)	9						TACTGGAACCATCGTACAGGG	0.488													22	204					0	0	1	0	0	T	118540573	A	T	118540573	2	4	428	1	0	0	0	0	0	0	0	1	14563	204	8	4		4	SLC25A43	23	118540573	Silent	SNP	A	TCGA-S9-A6WH-01A-12D-A33T-08	16568571	118540573	36729987	100	34667											
PASD1	139135	broad.mit.edu	37	X	150770028	150770028	+	Translation_Start_Site	SNP	G	G	A			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chrX:150770028G>A	ENST00000370357.4	+	2	248	c.3G>A	c.(1-3)atG>atA	p.M1I		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	1						nucleus	signal transducer activity			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					AATAATGAATGAAGATGAGAG	0.408													7	199					0	0	1	0	0	A	150770028	G	A	150770028	1	1	428	1	0	0	0	0	0	0	0	0	11518	1290	45	2		2	PASD1	23	150770028	Translation_Start_Site	SNP	G	TCGA-S9-A6WH-01A-12D-A33T-08	32229455	150770028	4500532	101	34668											
PNMA5	114824	broad.mit.edu	37	X	152159711	152159711	+	Silent	SNP	G	G	A			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chrX:152159711G>A	ENST00000439251.1	-	2	870	c.432C>T	c.(430-432)tcC>tcT	p.S144S	PNMA5_ENST00000535214.1_Silent_p.S144S|PNMA5_ENST00000452693.1_Silent_p.S144S|PNMA5_ENST00000361887.5_Silent_p.S144S	NM_001103150.1	NP_001096620.1	Q96PV4	PNMA5_HUMAN	paraneoplastic Ma antigen family member 5	144					apoptosis					breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	Acute lymphoblastic leukemia(192;6.56e-05)					CTAAAGGTGGGGATCTAACTT	0.537													33	385					0	0	1	0	0	A	152159711	G	A	152159711	2	1	428	1	0	0	0	0	0	0	0	1	12204	1219	43	2		2	PNMA5	23	152159711	Silent	SNP	G	TCGA-S9-A6WH-01A-12D-A33T-08	1389683	152159711	3110849	102	34669											
SPRY3	10251	broad.mit.edu	37	X	155004315	155004315	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chrX:155004315G>A	ENST00000302805.2	+	2	1213	c.782G>A	c.(781-783)cGc>cAc	p.R261H		NM_005840.1	NP_005831.1	O43610	SPY3_HUMAN	sprouty homolog 3 (Drosophila)	261	Cys-rich.				multicellular organismal development|regulation of signal transduction	cytoplasm|membrane						all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					CCAGGCTGCCGCTGCAAGAGG	0.572													23	315					0	0	1	0	0	A	155004315	G	A	155004315	3	1	428	1	0	0	0	0	1	0	0	0	15163	1087	38	1	784	1	SPRY3	23	155004315	Missense_Mutation	SNP	G	TCGA-S9-A6WH-01A-12D-A33T-08	2844604	155004315	266245	103	34670											
PLEKHG5	57449	broad.mit.edu	37	1	6530295	6530295	+	Splice_Site	SNP	C	C	T			TCGA-S9-A6WI-01A-21D-A33T-08	TCGA-S9-A6WI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f85240-c7fa-4026-b140-a777f230e3c9	b796628d-4a83-41f2-a924-33daf125d626	g.chr1:6530295C>T	ENST00000377748.1	-	17	2529		c.e17+1		PLEKHG5_ENST00000340850.5_Splice_Site|PLEKHG5_ENST00000377740.3_Splice_Site|PLEKHG5_ENST00000377732.1_Splice_Site|PLEKHG5_ENST00000400915.3_Splice_Site|PLEKHG5_ENST00000377728.3_Splice_Site|PLEKHG5_ENST00000377737.2_Splice_Site|PLEKHG5_ENST00000544978.1_Splice_Site|PLEKHG5_ENST00000535355.1_Splice_Site|PLEKHG5_ENST00000377725.1_Splice_Site|PLEKHG5_ENST00000400913.1_Splice_Site|PLEKHG5_ENST00000537245.1_Splice_Site	NM_198681.3	NP_941374.2	O94827	PKHG5_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 5						apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm	Rho guanyl-nucleotide exchange factor activity|signal transducer activity			liver(1)	1	Ovarian(185;0.02)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419)		CCTGGAATCACCTTGCTGTCC	0.662													9	76					0	0	1	0	0	T	6530295	C	T	6530295	5	4	429	1	0	0	0	0	0	0	1	0	12121	521	18	2	1243	2	PLEKHG5	1	6530295	Splice_Site	SNP	C	TCGA-S9-A6WI-01A-21D-A33T-08		6530295	242720326	1	34671											
AFF3	3899	broad.mit.edu	37	2	100170874	100170874	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6WI-01A-21D-A33T-08	TCGA-S9-A6WI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f85240-c7fa-4026-b140-a777f230e3c9	b796628d-4a83-41f2-a924-33daf125d626	g.chr2:100170874C>T	ENST00000409236.2	-	22	3570	c.3458G>A	c.(3457-3459)cGc>cAc	p.R1153H	AFF3_ENST00000409579.1_Missense_Mutation_p.R1178H|AFF3_ENST00000317233.4_Missense_Mutation_p.R1153H|AFF3_ENST00000356421.2_Missense_Mutation_p.R1178H			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3						multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.R1178H(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						CTGGTGGATGCGCTGTGGGAT	0.632													4	179					0	0	1	0	0	T	100170874	C	T	100170874	3	4	429	1	0	0	0	0	1	0	0	0	357	768	27	1	230	1	AFF3	2	100170874	Missense_Mutation	SNP	C	TCGA-S9-A6WI-01A-21D-A33T-08		100170874	143028499	2	34672											
IDH1	3417	broad.mit.edu	37	2	209113113	209113113	+	Missense_Mutation	SNP	G	G	A	rs121913499		TCGA-S9-A6WI-01A-21D-A33T-08	TCGA-S9-A6WI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f85240-c7fa-4026-b140-a777f230e3c9	b796628d-4a83-41f2-a924-33daf125d626	g.chr2:209113113G>A	ENST00000415913.1	-	4	775	c.394C>T	c.(394-396)Cgt>Tgt	p.R132C	IDH1_ENST00000345146.2_Missense_Mutation_p.R132C|IDH1_ENST00000446179.1_Missense_Mutation_p.R132C	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		TAAGCATGACGACCTATGATG	0.398			Mis		gliobastoma								21	175					0	0	1	0	0	A	209113113	G	A	209113113	3	1	429	1	0	0	0	0	1	0	0	0	7538	1058	37	1	878	1	IDH1	2	209113113	Missense_Mutation	SNP	G	TCGA-S9-A6WI-01A-21D-A33T-08	108942239	209113113	34086260	3	34673											
HDAC4	9759	broad.mit.edu	37	2	240005917	240005917	+	Silent	SNP	G	G	A	rs149230665		TCGA-S9-A6WI-01A-21D-A33T-08	TCGA-S9-A6WI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f85240-c7fa-4026-b140-a777f230e3c9	b796628d-4a83-41f2-a924-33daf125d626	g.chr2:240005917G>A	ENST00000345617.3	-	20	3242	c.2451C>T	c.(2449-2451)tcC>tcT	p.S817S	HDAC4_ENST00000543185.1_Silent_p.S401S	NM_006037.3	NP_006028.2	P56524	HDAC4_HUMAN	histone deacetylase 4	817	Histone deacetylase.				B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent	histone deacetylase complex|transcriptional repressor complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|potassium ion binding|repressing transcription factor binding|zinc ion binding			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		CCACGGCCACGGAGTTGAAGT	0.632													3	35					0	0	1	0	0	A	240005917	G	A	240005917	2	1	429	1	0	0	0	0	0	0	0	1	7050	1103	39	1		1	HDAC4	2	240005917	Silent	SNP	G	TCGA-S9-A6WI-01A-21D-A33T-08	30892804	240005917	3193456	4	34674											
TRAIP	10293	broad.mit.edu	37	3	49869465	49869465	+	Silent	SNP	C	C	T			TCGA-S9-A6WI-01A-21D-A33T-08	TCGA-S9-A6WI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f85240-c7fa-4026-b140-a777f230e3c9	b796628d-4a83-41f2-a924-33daf125d626	g.chr3:49869465C>T	ENST00000331456.2	-	11	1034	c.921G>A	c.(919-921)cgG>cgA	p.R307R	TRAIP_ENST00000469027.1_Silent_p.R152R	NM_005879.2	NP_005870.2	Q9BWF2	TRAIP_HUMAN	TRAF interacting protein	307	Interaction with CYLD.				cell proliferation|induction of apoptosis	perinuclear region of cytoplasm	protein binding|zinc ion binding	p.R307R(2)		breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GGAAGGATGGCCGGCGGAGCT	0.547													17	110					0	0	1	0	0	T	49869465	C	T	49869465	2	4	429	1	0	0	0	0	0	0	0	1	16509	726	26	2		2	TRAIP	3	49869465	Silent	SNP	C	TCGA-S9-A6WI-01A-21D-A33T-08		49869465	148152965	5	34675											
CEP97	79598	broad.mit.edu	37	3	101484296	101484296	+	Silent	SNP	C	C	T			TCGA-S9-A6WI-01A-21D-A33T-08	TCGA-S9-A6WI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f85240-c7fa-4026-b140-a777f230e3c9	b796628d-4a83-41f2-a924-33daf125d626	g.chr3:101484296C>T	ENST00000341893.3	+	11	3251	c.2499C>T	c.(2497-2499)agC>agT	p.S833S	CEP97_ENST00000494050.1_Silent_p.S774S|CEP97_ENST00000327230.4_Silent_p.S859S			Q8IW35	CEP97_HUMAN	centrosomal protein 97kDa	833						centrosome|nucleus	protein binding			cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29						GTGAAATTAGCCAGACACAAG	0.418													5	412					0	0	1	0	0	T	101484296	C	T	101484296	2	4	429	1	0	0	0	0	0	0	0	1	3285	738	26	2		2	CEP97	3	101484296	Silent	SNP	C	TCGA-S9-A6WI-01A-21D-A33T-08	51614831	101484296	96538134	6	34676											
MED12L	116931	broad.mit.edu	37	3	150834225	150834225	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6WI-01A-21D-A33T-08	TCGA-S9-A6WI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f85240-c7fa-4026-b140-a777f230e3c9	b796628d-4a83-41f2-a924-33daf125d626	g.chr3:150834225C>T	ENST00000474524.1	+	2	238	c.200C>T	c.(199-201)tCa>tTa	p.S67L	MED12L_ENST00000422248.2_Missense_Mutation_p.S67L|MED12L_ENST00000309237.4_Missense_Mutation_p.S67L|MED12L_ENST00000273432.4_Missense_Mutation_p.S67L	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	67					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			ATTAACCCATCAAAGGTAATG	0.363													9	51					0	0	1	0	0	T	150834225	C	T	150834225	3	4	429	1	0	0	0	0	1	0	0	0	9479	838	29	2	206	2	MED12L	3	150834225	Missense_Mutation	SNP	C	TCGA-S9-A6WI-01A-21D-A33T-08	49349929	150834225	47188205	7	34677											
PACRGL	133015	broad.mit.edu	37	4	20715062	20715062	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6WI-01A-21D-A33T-08	TCGA-S9-A6WI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f85240-c7fa-4026-b140-a777f230e3c9	b796628d-4a83-41f2-a924-33daf125d626	g.chr4:20715062C>T	ENST00000360916.5	+	7	900	c.509C>T	c.(508-510)tCg>tTg	p.S170L	PACRGL_ENST00000503585.1_Missense_Mutation_p.S170L|PACRGL_ENST00000444671.2_Missense_Mutation_p.S72L|PACRGL_ENST00000507634.1_Missense_Mutation_p.S170L|PACRGL_ENST00000295290.8_Missense_Mutation_p.S170L|PACRGL_ENST00000538990.1_Missense_Mutation_p.S72L|PACRGL_ENST00000513459.1_Missense_Mutation_p.S117L|PACRGL_ENST00000502938.1_Intron|PACRGL_ENST00000502374.1_Missense_Mutation_p.S117L	NM_145048.3	NP_659485.1	Q8N7B6	PACRL_HUMAN	PARK2 co-regulated-like	170							binding			endometrium(2)|lung(7)|prostate(1)	10						CAGGTCCATTCGGATGATGAA	0.428													20	125					0	0	1	0	0	T	20715062	C	T	20715062	3	4	429	1	0	0	0	0	1	0	0	0	11418	893	31	1	531	1	PACRGL	4	20715062	Missense_Mutation	SNP	C	TCGA-S9-A6WI-01A-21D-A33T-08		20715062	170439214	8	34678											
TLR6	10333	broad.mit.edu	37	4	38829460	38829460	+	Missense_Mutation	SNP	G	G	T			TCGA-S9-A6WI-01A-21D-A33T-08	TCGA-S9-A6WI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f85240-c7fa-4026-b140-a777f230e3c9	b796628d-4a83-41f2-a924-33daf125d626	g.chr4:38829460G>T	ENST00000436693.2	-	2	1754	c.1635C>A	c.(1633-1635)gaC>gaA	p.D545E	TLR6_ENST00000381950.1_Missense_Mutation_p.D545E	NM_006068.4	NP_006059.2	Q9Y2C9	TLR6_HUMAN	toll-like receptor 6	545	LRRCT.				activation of NF-kappaB-inducing kinase activity|cellular response to diacyl bacterial lipopeptide|defense response to bacterium|detection of diacyl bacterial lipopeptide|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-6 biosynthetic process|positive regulation of JUN kinase activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	integral to plasma membrane|phagocytic vesicle membrane	lipopeptide binding|transmembrane receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TTGATACTTGGTCTATATTTT	0.418													6	566					8.12818e-05	8.6362e-05	1	1	0	T	38829460	G	T	38829460	3	4	429	1	0	0	0	0	1	0	0	0	16015	1252	44	5	759	5	TLR6	4	38829460	Missense_Mutation	SNP	G	TCGA-S9-A6WI-01A-21D-A33T-08	18114398	38829460	152324816	9	34679											
SFRP2	6423	broad.mit.edu	37	4	154709562	154709562	+	Silent	SNP	G	G	A	rs142242428	byFrequency	TCGA-S9-A6WI-01A-21D-A33T-08	TCGA-S9-A6WI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f85240-c7fa-4026-b140-a777f230e3c9	b796628d-4a83-41f2-a924-33daf125d626	g.chr4:154709562G>A	ENST00000274063.4	-	1	710	c.426C>T	c.(424-426)tgC>tgT	p.C142C		NM_003013.2	NP_003004.1	Q96HF1	SFRP2_HUMAN	secreted frizzled-related protein 2	142	FZ.				brain development|cardiac left ventricle morphogenesis|cell-cell signaling|dermatome development|hemopoietic stem cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|negative regulation of cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of transcription, DNA-dependent|outflow tract morphogenesis|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell adhesion mediated by integrin|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of fat cell differentiation|positive regulation of peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of stem cell division|sclerotome development	cytoplasm|extracellular matrix|extracellular space|plasma membrane	fibronectin binding|integrin binding|PDZ domain binding|receptor agonist activity|Wnt receptor activity|Wnt-protein binding			breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(1)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	16	all_hematologic(180;0.093)	Renal(120;0.117)				GGAAACGGTCGCACTCAAGCA	0.647													13	135					0	0	1	0	0	A	154709562	G	A	154709562	2	1	429	1	0	0	0	0	0	0	0	1	14216	1079	38	1		1	SFRP2	4	154709562	Silent	SNP	G	TCGA-S9-A6WI-01A-21D-A33T-08	115880102	154709562	36444714	10	34680											
SDHA	6389	broad.mit.edu	37	5	236619	236619	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A6WI-01A-21D-A33T-08	TCGA-S9-A6WI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f85240-c7fa-4026-b140-a777f230e3c9	b796628d-4a83-41f2-a924-33daf125d626	g.chr5:236619T>C	ENST00000264932.6	+	10	1452	c.1337T>C	c.(1336-1338)gTa>gCa	p.V446A	SDHA_ENST00000510361.1_Missense_Mutation_p.V398A|SDHA_ENST00000504309.1_Missense_Mutation_p.V446A	NM_004168.2	NP_004159.2	P31040	DHSA_HUMAN	succinate dehydrogenase complex, subunit A, flavoprotein (Fp)	446					nervous system development|respiratory electron transport chain|succinate metabolic process|transport|tricarboxylic acid cycle	mitochondrial respiratory chain complex II	electron carrier activity|flavin adenine dinucleotide binding|protein binding|succinate dehydrogenase (ubiquinone) activity			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|liver(2)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	40			Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		Succinic acid(DB00139)	TGTGCCTCGGTACATGGTGCC	0.602									Familial Paragangliomas				5	146					0	0	1	0	0	C	236619	T	C	236619	3	2	429	1	0	0	0	0	1	0	0	0	14017	1638	57	3	1375	3	SDHA	5	236619	Missense_Mutation	SNP	T	TCGA-S9-A6WI-01A-21D-A33T-08		236619	180678641	11	34681											
HLA-C	3107	broad.mit.edu	37	6	31237284	31237284	+	Missense_Mutation	SNP	C	C	T	rs116968219	by1000genomes	TCGA-S9-A6WI-01A-21D-A33T-08	TCGA-S9-A6WI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f85240-c7fa-4026-b140-a777f230e3c9	b796628d-4a83-41f2-a924-33daf125d626	g.chr6:31237284C>T	ENST00000383329.3	-	6	1066	c.1052G>A	c.(1051-1053)tGc>tAc	p.C351Y	HLA-C_ENST00000376228.5_Missense_Mutation_p.C345Y			Q9TNN7	1C05_HUMAN	major histocompatibility complex, class I, C	345					antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	17						AGCCTGAGAGCAGCTCCCTCC	0.587													4	88					0	0	1	0	0	T	31237284	C	T	31237284	3	4	429	1	0	0	0	0	1	0	0	0	7238	710	25	2	78	2	HLA-C	6	31237284	Missense_Mutation	SNP	C	TCGA-S9-A6WI-01A-21D-A33T-08		31237284	139877783	12	34682											
ZNF318	24149	broad.mit.edu	37	6	43305558	43305558	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6WI-01A-21D-A33T-08	TCGA-S9-A6WI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f85240-c7fa-4026-b140-a777f230e3c9	b796628d-4a83-41f2-a924-33daf125d626	g.chr6:43305558C>T	ENST00000361428.2	-	10	6255	c.6178G>A	c.(6178-6180)Gct>Act	p.A2060T	ZNF318_ENST00000318149.3_Intron	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	2060					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			TCGAAGTCAGCGGGATCGGAG	0.458													4	167					0	0	1	0	0	T	43305558	C	T	43305558	3	4	429	1	0	0	0	0	1	0	0	0	17893	768	27	1	665	1	ZNF318	6	43305558	Missense_Mutation	SNP	C	TCGA-S9-A6WI-01A-21D-A33T-08	12068274	43305558	127809509	13	34683											
ARHGAP18	93663	broad.mit.edu	37	6	129963161	129963161	+	Missense_Mutation	SNP	C	C	T	rs143012976		TCGA-S9-A6WI-01A-21D-A33T-08	TCGA-S9-A6WI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f85240-c7fa-4026-b140-a777f230e3c9	b796628d-4a83-41f2-a924-33daf125d626	g.chr6:129963161C>T	ENST00000368149.2	-	2	204	c.116G>A	c.(115-117)cGc>cAc	p.R39H		NM_033515.2	NP_277050.2	Q8N392	RHG18_HUMAN	Rho GTPase activating protein 18	39					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			NS(2)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(3)	18				OV - Ovarian serous cystadenocarcinoma(136;0.0621)|GBM - Glioblastoma multiforme(226;0.0638)|all cancers(137;0.074)		GCCATATCTGCGACTGTAAAT	0.383													5	236					0	0	1	0	0	T	129963161	C	T	129963161	3	4	429	1	0	0	0	0	1	0	0	0	865	768	27	1	1931	1	ARHGAP18	6	129963161	Missense_Mutation	SNP	C	TCGA-S9-A6WI-01A-21D-A33T-08	86657603	129963161	41151906	14	34684											
WNT2	7472	broad.mit.edu	37	7	116955280	116955280	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6WI-01A-21D-A33T-08	TCGA-S9-A6WI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f85240-c7fa-4026-b140-a777f230e3c9	b796628d-4a83-41f2-a924-33daf125d626	g.chr7:116955280C>T	ENST00000265441.3	-	3	732	c.433G>A	c.(433-435)Gcc>Acc	p.A145T	AC002465.2_ENST00000436097.1_RNA	NM_003391.2	NP_003382.1	P09544	WNT2_HUMAN	wingless-type MMTV integration site family member 2	145					atrial cardiac muscle tissue morphogenesis|canonical Wnt receptor signaling pathway|cardiac epithelial to mesenchymal transition|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|dorsal/ventral axis specification|iris morphogenesis|labyrinthine layer blood vessel development|lens development in camera-type eye|lung induction|mammary gland epithelium development|neuron differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of fibroblast proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, calcium modulating pathway	cytoplasm|extracellular space|proteinaceous extracellular matrix	cytokine activity|frizzled binding|frizzled-2 binding|signal transducer activity			breast(2)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|ovary(3)|prostate(1)|skin(2)	31	all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		CTGTCCTTGGCGCTTCCCATC	0.473													6	196					0	0	1	0	0	T	116955280	C	T	116955280	3	4	429	1	0	0	0	0	1	0	0	0	17446	768	27	1	661	1	WNT2	7	116955280	Missense_Mutation	SNP	C	TCGA-S9-A6WI-01A-21D-A33T-08		116955280	42183383	15	34685											
PTK2	5747	broad.mit.edu	37	8	141762391	141762391	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A6WI-01A-21D-A33T-08	TCGA-S9-A6WI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f85240-c7fa-4026-b140-a777f230e3c9	b796628d-4a83-41f2-a924-33daf125d626	g.chr8:141762391T>C	ENST00000522684.1	-	17	1586	c.1357A>G	c.(1357-1359)Att>Gtt	p.I453V	PTK2_ENST00000520151.1_Missense_Mutation_p.I81V|PTK2_ENST00000395218.2_Missense_Mutation_p.I453V|PTK2_ENST00000521059.1_Missense_Mutation_p.I453V|PTK2_ENST00000519465.1_Missense_Mutation_p.I81V|PTK2_ENST00000519419.1_Missense_Mutation_p.I497V|PTK2_ENST00000340930.3_Missense_Mutation_p.I453V|PTK2_ENST00000517887.1_Missense_Mutation_p.I497V|PTK2_ENST00000535192.1_Missense_Mutation_p.I453V|PTK2_ENST00000538769.1_Missense_Mutation_p.I121V	NM_153831.3	NP_722560.1	Q05397	FAK1_HUMAN	protein tyrosine kinase 2	453	Protein kinase.				axon guidance|blood coagulation|cellular component disassembly involved in apoptosis|ephrin receptor signaling pathway|growth hormone receptor signaling pathway|integrin-mediated signaling pathway|peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of cell adhesion mediated by integrin|signal complex assembly	cytoskeleton|cytosol|focal adhesion	ATP binding|JUN kinase binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(6)|lung(23)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	48	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.137)			CATGTTTTAATTGCAACCGCC	0.368													4	161					0	0	1	0	0	C	141762391	T	C	141762391	3	2	429	1	0	0	0	0	1	0	0	0	12812	1493	52	3	1865	3	PTK2	8	141762391	Missense_Mutation	SNP	T	TCGA-S9-A6WI-01A-21D-A33T-08		141762391	4601631	16	34686											
PALM2	114299	broad.mit.edu	37	9	112686117	112686117	+	Silent	SNP	G	G	A			TCGA-S9-A6WI-01A-21D-A33T-08	TCGA-S9-A6WI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f85240-c7fa-4026-b140-a777f230e3c9	b796628d-4a83-41f2-a924-33daf125d626	g.chr9:112686117G>A	ENST00000448454.2	+	5	366	c.366G>A	c.(364-366)aaG>aaA	p.K122K	PALM2-AKAP2_ENST00000302798.7_Silent_p.K120K|PALM2_ENST00000483909.1_Silent_p.K120K|AKAP2_ENST00000510514.5_Silent_p.K120K|PALM2-AKAP2_ENST00000374530.3_Silent_p.K120K|PALM2_ENST00000374531.2_Silent_p.K122K|PALM2_ENST00000314527.4_Silent_p.K120K|AKAP2_ENST00000555236.1_Silent_p.K120K					paralemmin 2											breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(1)	18						AATCCTTCAAGGACTTTCAGA	0.418													6	41					0	0	1	0	0	A	112686117	G	A	112686117	2	1	429	1	0	0	0	0	0	0	0	1	11456	991	35	2		2	PALM2	9	112686117	Silent	SNP	G	TCGA-S9-A6WI-01A-21D-A33T-08		112686117	28527314	17	34687	148	2									
PALM2	114299	broad.mit.edu	37	9	112686126	112686126	+	Missense_Mutation	SNP	G	G	C	rs141885294		TCGA-S9-A6WI-01A-21D-A33T-08	TCGA-S9-A6WI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f85240-c7fa-4026-b140-a777f230e3c9	b796628d-4a83-41f2-a924-33daf125d626	g.chr9:112686126G>C	ENST00000448454.2	+	5	375	c.375G>C	c.(373-375)caG>caC	p.Q125H	PALM2-AKAP2_ENST00000302798.7_Missense_Mutation_p.Q123H|PALM2_ENST00000483909.1_Missense_Mutation_p.Q123H|AKAP2_ENST00000510514.5_Missense_Mutation_p.Q123H|PALM2-AKAP2_ENST00000374530.3_Missense_Mutation_p.Q123H|PALM2_ENST00000374531.2_Missense_Mutation_p.Q125H|PALM2_ENST00000314527.4_Missense_Mutation_p.Q123H|AKAP2_ENST00000555236.1_Missense_Mutation_p.Q123H					paralemmin 2											breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(1)	18						AGGACTTTCAGAAGGTGAAGA	0.413													5	35					0	0	1	0	0	C	112686126	G	C	112686126	3	2	429	1	0	0	0	0	1	0	0	0	11456	933	33	4	393	4	PALM2	9	112686126	Missense_Mutation	SNP	G	TCGA-S9-A6WI-01A-21D-A33T-08	9	112686126	28527305	18	34688	148	2									
FRMPD2	143162	broad.mit.edu	37	10	49440276	49440276	+	Silent	SNP	G	G	A			TCGA-S9-A6WI-01A-21D-A33T-08	TCGA-S9-A6WI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f85240-c7fa-4026-b140-a777f230e3c9	b796628d-4a83-41f2-a924-33daf125d626	g.chr10:49440276G>A	ENST00000374201.3	-	10	1352	c.1050C>T	c.(1048-1050)aaC>aaT	p.N350N	FRMPD2_ENST00000305531.3_Silent_p.N326N|FRMPD2_ENST00000407470.4_Silent_p.N319N	NM_001018071.3|NM_001042512.2	NP_001018081|NP_001035977.2	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2	350	FERM.				tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding			NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		GGTGCTGCCCGTTCAGCAGGA	0.443													4	134					0	0	1	0	0	A	49440276	G	A	49440276	2	1	429	1	0	0	0	0	0	0	0	1	6093	1136	40	1		1	FRMPD2	10	49440276	Silent	SNP	G	TCGA-S9-A6WI-01A-21D-A33T-08		49440276	86094471	19	34689											
CDHR1	92211	broad.mit.edu	37	10	85973974	85973974	+	Missense_Mutation	SNP	G	G	A	rs142917517		TCGA-S9-A6WI-01A-21D-A33T-08	TCGA-S9-A6WI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f85240-c7fa-4026-b140-a777f230e3c9	b796628d-4a83-41f2-a924-33daf125d626	g.chr10:85973974G>A	ENST00000372117.3	+	17	2280	c.2177G>A	c.(2176-2178)cGc>cAc	p.R726H	CDHR1_ENST00000332904.3_Intron|CDHR1_ENST00000440770.2_Missense_Mutation_p.R430H	NM_033100.2	NP_149091.1	Q96JP9	CDHR1_HUMAN	cadherin-related family member 1	726					homophilic cell adhesion		calcium ion binding|receptor activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						ACCTTCTGGCGCAACAAGAAG	0.642													4	180					0	0	1	0	0	A	85973974	G	A	85973974	3	1	429	1	0	0	0	0	1	0	0	0	3140	1087	38	1	2243	1	CDHR1	10	85973974	Missense_Mutation	SNP	G	TCGA-S9-A6WI-01A-21D-A33T-08	36533698	85973974	49560773	20	34690											
DMBT1	1755	broad.mit.edu	37	10	124333279	124333279	+	Splice_Site	SNP	G	G	A			TCGA-S9-A6WI-01A-21D-A33T-08	TCGA-S9-A6WI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f85240-c7fa-4026-b140-a777f230e3c9	b796628d-4a83-41f2-a924-33daf125d626	g.chr10:124333279G>A	ENST00000338354.3	+	6	389		c.e6+1		DMBT1_ENST00000359586.6_Splice_Site|DMBT1_ENST00000330163.4_Splice_Site|DMBT1_ENST00000344338.3_Splice_Site|DMBT1_ENST00000368909.3_Splice_Site|DMBT1_ENST00000368955.3_Splice_Site|DMBT1_ENST00000368956.2_Splice_Site			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1						epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				GTAGCAGAAGGTAACGTCTAC	0.527													35	330					0	0	1	0	0	A	124333279	G	A	124333279	5	1	429	1	0	0	0	0	0	0	1	0	4605	1275	44	2	306	2	DMBT1	10	124333279	Splice_Site	SNP	G	TCGA-S9-A6WI-01A-21D-A33T-08	38359305	124333279	11201468	21	34691											
LGR4	55366	broad.mit.edu	37	11	27398748	27398749	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-S9-A6WI-01A-21D-A33T-08	TCGA-S9-A6WI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f85240-c7fa-4026-b140-a777f230e3c9	b796628d-4a83-41f2-a924-33daf125d626	g.chr11:27398748_27398749delTT	ENST00000379214.4	-	12	1508_1509	c.1065_1066delAA	c.(1063-1068)ataagafs	p.IR355fs	LGR4_ENST00000389858.4_Frame_Shift_Del_p.IR331fs	NM_018490.2	NP_060960.2	Q9BXB1	LGR4_HUMAN	leucine-rich repeat containing G protein-coupled receptor 4	355						integral to membrane|plasma membrane	protein-hormone receptor activity			NS(3)|breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(10)|ovary(1)	32						GGAAGGTCTCTTATATTATTGT	0.332													25	187	---	---	---	---						-	27398749	TT	-	27398748	7	5	429	1	0	1	0	1	0	0	0	0	8796	1617	56	0	1817	0	LGR4	11	27398748	Frame_Shift_Del	DEL	TT	TCGA-S9-A6WI-01A-21D-A33T-08		27398748	107607768	22	34692											
SRPR	6734	broad.mit.edu	37	11	126135974	126135974	+	Missense_Mutation	SNP	G	G	A	rs138456100	byFrequency	TCGA-S9-A6WI-01A-21D-A33T-08	TCGA-S9-A6WI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f85240-c7fa-4026-b140-a777f230e3c9	b796628d-4a83-41f2-a924-33daf125d626	g.chr11:126135974G>A	ENST00000332118.6	-	8	1089	c.935C>T	c.(934-936)gCg>gTg	p.A312V	SRPR_ENST00000532259.1_Missense_Mutation_p.A284V	NM_003139.3	NP_003130.2	P08240	SRPR_HUMAN	signal recognition particle receptor (docking protein)	312					SRP-dependent cotranslational protein targeting to membrane	integral to membrane|signal recognition particle receptor complex	GTP binding|GTPase activity|receptor activity|signal recognition particle binding			endometrium(7)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)	21	all_hematologic(175;0.145)			BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0736)		TCCCTTGGTCGCACTGCAGGG	0.478													5	383					0	0	1	0	0	A	126135974	G	A	126135974	3	1	429	1	0	0	0	0	1	0	0	0	15218	1087	38	1	1009	1	SRPR	11	126135974	Missense_Mutation	SNP	G	TCGA-S9-A6WI-01A-21D-A33T-08	98737226	126135974	8870542	23	34693											
SAP18	10284	broad.mit.edu	37	13	21721465	21721465	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6WI-01A-21D-A33T-08	TCGA-S9-A6WI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f85240-c7fa-4026-b140-a777f230e3c9	b796628d-4a83-41f2-a924-33daf125d626	g.chr13:21721465G>A	ENST00000382533.4	+	4	542	c.503G>A	c.(502-504)cGc>cAc	p.R168H	SAP18_ENST00000607003.1_Missense_Mutation_p.R149H	NM_005870.4	NP_005861.2	O00422	SAP18_HUMAN	Sin3A-associated protein, 18kDa	149					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|plasma membrane	protein binding|transcription corepressor activity	p.R149H(1)		kidney(1)|large_intestine(1)|lung(4)	6		all_cancers(29;2.16e-20)|all_epithelial(30;2.97e-18)|all_lung(29;4.58e-16)|Lung SC(185;0.0262)|Breast(139;0.147)		all cancers(112;9.79e-05)|Epithelial(112;0.000292)|OV - Ovarian serous cystadenocarcinoma(117;0.00276)|Lung(94;0.0941)		CCTTCAGGGCGCATGAGACCA	0.403													5	324					0	0	1	0	0	A	21721465	G	A	21721465	3	1	429	1	0	0	0	0	1	0	0	0	13884	1087	38	1	517	1	SAP18	13	21721465	Missense_Mutation	SNP	G	TCGA-S9-A6WI-01A-21D-A33T-08		21721465	93448413	24	34694											
FREM2	341640	broad.mit.edu	37	13	39263907	39263907	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6WI-01A-21D-A33T-08	TCGA-S9-A6WI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f85240-c7fa-4026-b140-a777f230e3c9	b796628d-4a83-41f2-a924-33daf125d626	g.chr13:39263907G>A	ENST00000280481.7	+	1	2642	c.2426G>A	c.(2425-2427)cGa>cAa	p.R809Q		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	809					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		GTGGAAGACCGAGCTGGGAAT	0.542													14	123					0	0	1	0	0	A	39263907	G	A	39263907	3	1	429	1	0	0	0	0	1	0	0	0	6080	1058	37	1	2428	1	FREM2	13	39263907	Missense_Mutation	SNP	G	TCGA-S9-A6WI-01A-21D-A33T-08	17542442	39263907	75905971	25	34695											
PSME1	5720	broad.mit.edu	37	14	24606754	24606754	+	Missense_Mutation	SNP	A	A	C			TCGA-S9-A6WI-01A-21D-A33T-08	TCGA-S9-A6WI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f85240-c7fa-4026-b140-a777f230e3c9	b796628d-4a83-41f2-a924-33daf125d626	g.chr14:24606754A>C	ENST00000382708.3	+	5	335	c.272A>C	c.(271-273)aAg>aCg	p.K91T	PSME1_ENST00000561435.1_Missense_Mutation_p.K91T|PSME1_ENST00000206451.6_Missense_Mutation_p.K91T|PSME1_ENST00000559123.1_5'UTR|PSME1_ENST00000470718.1_3'UTR	NM_176783.1	NP_788955.1	Q06323	PSME1_HUMAN	proteasome (prosome, macropain) activator subunit 1 (PA28 alpha)	91					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|proteasome activator complex				endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11				GBM - Glioblastoma multiforme(265;0.00831)		GAAAAGAAGAAGGGGGAGGAT	0.488													17	101					0	0	1	0	0	C	24606754	A	C	24606754	3	2	429	1	0	0	0	0	1	0	0	0	12755	72	3	5	290	5	PSME1	14	24606754	Missense_Mutation	SNP	A	TCGA-S9-A6WI-01A-21D-A33T-08		24606754	82742786	26	34696											
PKD1	5310	broad.mit.edu	37	16	2143667	2143667	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6WI-01A-21D-A33T-08	TCGA-S9-A6WI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f85240-c7fa-4026-b140-a777f230e3c9	b796628d-4a83-41f2-a924-33daf125d626	g.chr16:2143667C>T	ENST00000262304.4	-	37	11102	c.10894G>A	c.(10894-10896)Gag>Aag	p.E3632K	PKD1_ENST00000423118.1_Missense_Mutation_p.E3631K|RP11-304L19.1_ENST00000570072.1_RNA	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	3632			E -> D (in ADPKD1).		calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						GCCGGGCTCTCTACCAGGGTG	0.642													3	40					0	0	1	0	0	T	2143667	C	T	2143667	3	4	429	1	0	0	0	0	1	0	0	0	12011	922	32	2	2057	2	PKD1	16	2143667	Missense_Mutation	SNP	C	TCGA-S9-A6WI-01A-21D-A33T-08		2143667	88211086	27	34697											
CASKIN1	57524	broad.mit.edu	37	16	2236990	2236990	+	Missense_Mutation	SNP	C	C	A			TCGA-S9-A6WI-01A-21D-A33T-08	TCGA-S9-A6WI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f85240-c7fa-4026-b140-a777f230e3c9	b796628d-4a83-41f2-a924-33daf125d626	g.chr16:2236990C>A	ENST00000343516.6	-	9	1011	c.919G>T	c.(919-921)Gac>Tac	p.D307Y		NM_020764.3	NP_065815.1	Q8WXD9	CSKI1_HUMAN	CASK interacting protein 1	307	SH3.				signal transduction	cytoplasm				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|liver(1)|lung(7)|ovary(4)|prostate(5)|skin(3)	28						GTGATGATGTCCCCTGCCTTC	0.652													13	144					0.00185496	0.00188264	1	1	0	A	2236990	C	A	2236990	3	1	429	1	0	0	0	0	1	0	0	0	2684	855	30	5	3424	5	CASKIN1	16	2236990	Missense_Mutation	SNP	C	TCGA-S9-A6WI-01A-21D-A33T-08	93323	2236990	88117763	28	34698											
GRIN2A	2903	broad.mit.edu	37	16	10032029	10032029	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6WI-01A-21D-A33T-08	TCGA-S9-A6WI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f85240-c7fa-4026-b140-a777f230e3c9	b796628d-4a83-41f2-a924-33daf125d626	g.chr16:10032029G>A	ENST00000396573.2	-	4	1103	c.794C>T	c.(793-795)aCg>aTg	p.T265M	GRIN2A_ENST00000562109.1_Missense_Mutation_p.T265M|GRIN2A_ENST00000396575.2_Missense_Mutation_p.T265M|GRIN2A_ENST00000404927.2_Missense_Mutation_p.T265M|GRIN2A_ENST00000566670.1_5'UTR|GRIN2A_ENST00000330684.3_Missense_Mutation_p.T265M|GRIN2A_ENST00000535259.1_Missense_Mutation_p.T108M	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	265					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	p.T265M(1)		NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GATGAGCTCCGTGTTCCCAGA	0.552													5	122					0	0	1	0	0	A	10032029	G	A	10032029	3	1	429	1	0	0	0	0	1	0	0	0	6820	1145	40	1	3644	1	GRIN2A	16	10032029	Missense_Mutation	SNP	G	TCGA-S9-A6WI-01A-21D-A33T-08	7795039	10032029	80322724	29	34699											
PDILT	204474	broad.mit.edu	37	16	20370700	20370702	+	In_Frame_Del	DEL	CCA	CCA	-			TCGA-S9-A6WI-01A-21D-A33T-08	TCGA-S9-A6WI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f85240-c7fa-4026-b140-a777f230e3c9	b796628d-4a83-41f2-a924-33daf125d626	g.chr16:20370700_20370702delCCA	ENST00000302451.4	-	12	1942_1944	c.1694_1696delTGG	c.(1693-1698)gtggct>gct	p.V565del		NM_174924.1	NP_777584.1	Q8N807	PDILT_HUMAN	protein disulfide isomerase-like, testis expressed	565					cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						TTTGGCTTAGCCACCACCACCAC	0.478													13	562	---	---	---	---						-	20370702	CCA	-	20370700	7	5	429	1	0	1	0	1	0	0	0	0	11721	739	26	0	62	0	PDILT	16	20370700	In_Frame_Del	DEL	CCA	TCGA-S9-A6WI-01A-21D-A33T-08	10338671	20370700	69984053	30	34700											
HYDIN	54768	broad.mit.edu	37	16	70841641	70841641	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6WI-01A-21D-A33T-08	TCGA-S9-A6WI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f85240-c7fa-4026-b140-a777f230e3c9	b796628d-4a83-41f2-a924-33daf125d626	g.chr16:70841641G>A	ENST00000393567.2	-	86	15358	c.15208C>T	c.(15208-15210)Cgg>Tgg	p.R5070W		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	5070										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				TTCTTGGGCCGCACAGACTCT	0.517													4	219					0	0	1	0	0	A	70841641	G	A	70841641	3	1	429	1	0	0	0	0	1	0	0	0	7511	1086	38	1	161	1	HYDIN	16	70841641	Missense_Mutation	SNP	G	TCGA-S9-A6WI-01A-21D-A33T-08	50470941	70841641	19513112	31	34701											
FAM83G	644815	broad.mit.edu	37	17	18881175	18881175	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6WI-01A-21D-A33T-08	TCGA-S9-A6WI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f85240-c7fa-4026-b140-a777f230e3c9	b796628d-4a83-41f2-a924-33daf125d626	g.chr17:18881175G>A	ENST00000388995.6	-	5	2027	c.1804C>T	c.(1804-1806)Cgt>Tgt	p.R602C	FAM83G_ENST00000585154.2_Missense_Mutation_p.R602C|SLC5A10_ENST00000395643.2_Intron|SLC5A10_ENST00000417251.2_Intron|SLC5A10_ENST00000395647.2_Intron|SLC5A10_ENST00000395642.1_Intron|SLC5A10_ENST00000395645.3_Intron|SLC5A10_ENST00000317977.6_Intron|FAM83G_ENST00000345041.4_Missense_Mutation_p.R602C			A6ND36	FA83G_HUMAN	family with sequence similarity 83, member G	602										central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						CCAGGGCCACGGCCGGAGCTG	0.637													20	150					0	0	1	0	0	A	18881175	G	A	18881175	3	1	429	1	0	0	0	0	1	0	0	0	5671	1116	39	1	675	1	FAM83G	17	18881175	Missense_Mutation	SNP	G	TCGA-S9-A6WI-01A-21D-A33T-08		18881175	62314035	32	34702											
NEK8	284086	broad.mit.edu	37	17	27061088	27061088	+	Silent	SNP	G	G	A			TCGA-S9-A6WI-01A-21D-A33T-08	TCGA-S9-A6WI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f85240-c7fa-4026-b140-a777f230e3c9	b796628d-4a83-41f2-a924-33daf125d626	g.chr17:27061088G>A	ENST00000268766.6	+	2	169	c.135G>A	c.(133-135)cgG>cgA	p.R45R	NEK8_ENST00000593261.1_3'UTR|AC010761.6_ENST00000584779.1_RNA	NM_178170.2	NP_835464.1	Q86SG6	NEK8_HUMAN	NIMA-related kinase 8	45	Protein kinase.					cytoplasm|primary cilium	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Lung NSC(42;0.0158)					AGGAAGAGCGGCAGGCAGCCC	0.527													10	127					0	0	1	0	0	A	27061088	G	A	27061088	2	1	429	1	0	0	0	0	0	0	0	1	10377	1190	42	2		2	NEK8	17	27061088	Silent	SNP	G	TCGA-S9-A6WI-01A-21D-A33T-08	8179913	27061088	54134122	33	34703											
CDK12	51755	broad.mit.edu	37	17	37686866	37686866	+	Missense_Mutation	SNP	C	C	G			TCGA-S9-A6WI-01A-21D-A33T-08	TCGA-S9-A6WI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f85240-c7fa-4026-b140-a777f230e3c9	b796628d-4a83-41f2-a924-33daf125d626	g.chr17:37686866C>G	ENST00000447079.4	+	14	3803	c.3770C>G	c.(3769-3771)cCt>cGt	p.P1257R	CDK12_ENST00000430627.2_Intron	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	1257					mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						GCATGTCCTCCTCACATTCTT	0.512			"Mis, N, F"		serous ovarian					TCGA Ovarian(9;0.13)			12	492					0	0	1	0	0	G	37686866	C	G	37686866	3	3	429	1	0	0	0	0	1	0	0	0	3150	681	24	4	3824	4	CDK12	17	37686866	Missense_Mutation	SNP	C	TCGA-S9-A6WI-01A-21D-A33T-08	10625778	37686866	43508344	34	34704											
SPAG9	9043	broad.mit.edu	37	17	49197893	49197893	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A6WI-01A-21D-A33T-08	TCGA-S9-A6WI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f85240-c7fa-4026-b140-a777f230e3c9	b796628d-4a83-41f2-a924-33daf125d626	g.chr17:49197893T>C	ENST00000262013.7	-	1	333	c.125A>G	c.(124-126)tAt>tGt	p.Y42C	SPAG9_ENST00000357122.4_Missense_Mutation_p.Y42C|SPAG9_ENST00000505279.1_Missense_Mutation_p.Y42C	NM_001130528.2	NP_001124000.1	O60271	JIP4_HUMAN	sperm associated antigen 9	42					positive regulation of cell migration|positive regulation of muscle cell differentiation|retrograde transport, endosome to Golgi|spermatogenesis	acrosomal vesicle|integral to membrane|perinuclear region of cytoplasm				NS(1)|breast(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37			BRCA - Breast invasive adenocarcinoma(22;4.24e-07)			CTCCTCGTCATAGCGCCCGAT	0.667													6	36					0	0	1	0	0	C	49197893	T	C	49197893	3	2	429	1	0	0	0	0	1	0	0	0	15041	1406	49	3	3960	3	SPAG9	17	49197893	Missense_Mutation	SNP	T	TCGA-S9-A6WI-01A-21D-A33T-08	11511027	49197893	31997317	35	34705											
NUP85	79902	broad.mit.edu	37	17	73204634	73204634	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6WI-01A-21D-A33T-08	TCGA-S9-A6WI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f85240-c7fa-4026-b140-a777f230e3c9	b796628d-4a83-41f2-a924-33daf125d626	g.chr17:73204634G>A	ENST00000245544.4	+	2	117	c.46G>A	c.(46-48)Gtg>Atg	p.V16M	NUP85_ENST00000447371.2_5'UTR|NUP85_ENST00000579298.1_Missense_Mutation_p.V16M|NUP85_ENST00000541827.1_Intron|NUP85_ENST00000579324.1_Intron|NUP85_ENST00000449421.2_Intron	NM_024844.3	NP_079120.1	Q9BW27	NUP85_HUMAN	nucleoporin 85kDa	16					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|nuclear membrane|Nup107-160 complex|spindle	protein binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	16	all_lung(278;0.14)|Lung NSC(278;0.168)		all cancers(21;3.45e-06)			GATTCCAGGCGTGAATTCCAA	0.333													5	552					0	0	1	0	0	A	73204634	G	A	73204634	3	1	429	1	0	0	0	0	1	0	0	0	10818	1145	40	1	52	1	NUP85	17	73204634	Missense_Mutation	SNP	G	TCGA-S9-A6WI-01A-21D-A33T-08	24006741	73204634	7990576	36	34706											
PLD3	23646	broad.mit.edu	37	19	40872763	40872763	+	Silent	SNP	C	C	T			TCGA-S9-A6WI-01A-21D-A33T-08	TCGA-S9-A6WI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f85240-c7fa-4026-b140-a777f230e3c9	b796628d-4a83-41f2-a924-33daf125d626	g.chr19:40872763C>T	ENST00000409587.1	+	5	583	c.186C>T	c.(184-186)taC>taT	p.Y62Y	PLD3_ENST00000409281.1_Silent_p.Y62Y|PLD3_ENST00000356508.5_Silent_p.Y62Y|PLD3_ENST00000409419.1_Silent_p.Y62Y|PLD3_ENST00000409735.4_Silent_p.Y62Y			Q8IV08	PLD3_HUMAN	phospholipase D family, member 3	62					lipid catabolic process	endoplasmic reticulum membrane|integral to membrane	NAPE-specific phospholipase D activity|phospholipase D activity|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	20			Lung(22;0.000636)|LUSC - Lung squamous cell carcinoma(20;0.00248)			TATGGGAATACGGCGACTTGC	0.632													4	185					0	0	1	0	0	T	40872763	C	T	40872763	2	4	429	1	0	0	0	0	0	0	0	1	12095	547	19	1		1	PLD3	19	40872763	Silent	SNP	C	TCGA-S9-A6WI-01A-21D-A33T-08		40872763	18256220	37	34707											
DKKL1	27120	broad.mit.edu	37	19	49867940	49867940	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6WI-01A-21D-A33T-08	TCGA-S9-A6WI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f85240-c7fa-4026-b140-a777f230e3c9	b796628d-4a83-41f2-a924-33daf125d626	g.chr19:49867940G>A	ENST00000221498.2	+	2	517	c.112G>A	c.(112-114)Gcc>Acc	p.A38T	DKKL1_ENST00000594268.1_Intron	NM_014419.3	NP_055234.1	Q9UK85	DKKL1_HUMAN	dickkopf-like 1	38					anatomical structure morphogenesis	extracellular space	protein binding|signal transducer activity			large_intestine(2)|upper_aerodigestive_tract(1)	3		all_lung(116;1.66e-06)|Lung NSC(112;5.89e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0456)		TGATGCTGACGCCCAAGAGAG	0.622													22	86					0	0	1	0	0	A	49867940	G	A	49867940	3	1	429	1	0	0	0	0	1	0	0	0	4576	1087	38	1	118	1	DKKL1	19	49867940	Missense_Mutation	SNP	G	TCGA-S9-A6WI-01A-21D-A33T-08	8995177	49867940	9261043	38	34708											
CCDC155	147872	broad.mit.edu	37	19	49898519	49898519	+	Missense_Mutation	SNP	G	G	A	rs62623430		TCGA-S9-A6WI-01A-21D-A33T-08	TCGA-S9-A6WI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f85240-c7fa-4026-b140-a777f230e3c9	b796628d-4a83-41f2-a924-33daf125d626	g.chr19:49898519G>A	ENST00000447857.3	+	4	510	c.305G>A	c.(304-306)cGt>cAt	p.R102H		NM_144688.4	NP_653289.3	Q8N6L0	CC155_HUMAN	coiled-coil domain containing 155	102						integral to membrane	calcium ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(10)|ovary(1)|stomach(1)	22						GTTGTCATGCGTGACTGGATT	0.552													25	143					0	0	1	0	0	A	49898519	G	A	49898519	3	1	429	1	0	0	0	0	1	0	0	0	2807	1145	40	1	315	1	CCDC155	19	49898519	Missense_Mutation	SNP	G	TCGA-S9-A6WI-01A-21D-A33T-08	30579	49898519	9230464	39	34709											
ZNF320	162967	broad.mit.edu	37	19	53384108	53384108	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6WI-01A-21D-A33T-08	TCGA-S9-A6WI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f85240-c7fa-4026-b140-a777f230e3c9	b796628d-4a83-41f2-a924-33daf125d626	g.chr19:53384108C>T	ENST00000595635.1	-	8	1772	c.1271G>A	c.(1270-1272)cGc>cAc	p.R424H	ZNF320_ENST00000391781.2_Missense_Mutation_p.R424H|ZNF320_ENST00000600930.1_Intron|ZNF320_ENST00000597909.1_Intron	NM_207333.2	NP_997216.2	A2RRD8	ZN320_HUMAN	zinc finger protein 320	424					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(4)|large_intestine(5)|liver(1)|lung(10)|urinary_tract(1)	24				GBM - Glioblastoma multiforme(134;0.0534)		GTGTGATTTGCGAATGTAAAC	0.388													4	165					0	0	1	0	0	T	53384108	C	T	53384108	3	4	429	1	0	0	0	0	1	0	0	0	17896	768	27	1	262	1	ZNF320	19	53384108	Missense_Mutation	SNP	C	TCGA-S9-A6WI-01A-21D-A33T-08	3485589	53384108	5744875	40	34710											
RALGAPB	57148	broad.mit.edu	37	20	37203492	37203492	+	Missense_Mutation	SNP	A	A	T			TCGA-S9-A6WI-01A-21D-A33T-08	TCGA-S9-A6WI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f85240-c7fa-4026-b140-a777f230e3c9	b796628d-4a83-41f2-a924-33daf125d626	g.chr20:37203492A>T	ENST00000262879.6	+	30	4651	c.4367A>T	c.(4366-4368)cAt>cTt	p.H1456L	RALGAPB_ENST00000490114.1_3'UTR|RALGAPB_ENST00000397042.3_Missense_Mutation_p.H1453L|RALGAPB_ENST00000397040.1_Missense_Mutation_p.H1456L|RALGAPB_ENST00000397038.1_Missense_Mutation_p.H1235L			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	1456					activation of Ral GTPase activity	intracellular	protein heterodimerization activity|Ral GTPase activator activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						AGTCCCCCCCATGTCCGCCGG	0.438													14	219					0	0	1	0	0	T	37203492	A	T	37203492	3	4	429	1	0	0	0	0	1	0	0	0	13067	217	8	4	4481	4	RALGAPB	20	37203492	Missense_Mutation	SNP	A	TCGA-S9-A6WI-01A-21D-A33T-08		37203492	25822028	41	34711											
TPTE	7179	broad.mit.edu	37	21	10942732	10942732	+	Silent	SNP	G	G	A			TCGA-S9-A6WI-01A-21D-A33T-08	TCGA-S9-A6WI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f85240-c7fa-4026-b140-a777f230e3c9	b796628d-4a83-41f2-a924-33daf125d626	g.chr21:10942732G>A	ENST00000298232.7	-	12	1022	c.655C>T	c.(655-657)Cta>Tta	p.L219L	TPTE_ENST00000342420.5_Silent_p.L199L|TPTE_ENST00000361285.4_Silent_p.L237L|TPTE_ENST00000415664.2_5'UTR	NM_199259.2	NP_954868	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	237					signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			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)		GTGAGGTCTAGGTCAAATCCA	0.323													24	814					0	0	1	0	0	A	10942732	G	A	10942732	2	1	429	1	0	0	0	0	0	0	0	1	16491	991	35	2		2	TPTE	21	10942732	Silent	SNP	G	TCGA-S9-A6WI-01A-21D-A33T-08		10942732	37187163	42	34712											
DNMT3L	29947	broad.mit.edu	37	21	45666374	45666374	+	Missense_Mutation	SNP	G	G	A	rs141318231		TCGA-S9-A6WI-01A-21D-A33T-08	TCGA-S9-A6WI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f85240-c7fa-4026-b140-a777f230e3c9	b796628d-4a83-41f2-a924-33daf125d626	g.chr21:45666374G>A	ENST00000270172.3	-	12	1553	c.1070C>T	c.(1069-1071)gCg>gTg	p.A357V	DNMT3L_ENST00000418993.1_Missense_Mutation_p.A356V	NM_013369.3	NP_037501.2	Q9UJW3	DNM3L_HUMAN	DNA (cytosine-5-)-methyltransferase 3-like	356					DNA methylation|negative regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|spermatogenesis	cytosol	enzyme activator activity|enzyme binding|metal ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(3)	11				Colorectal(79;0.0165)|READ - Rectum adenocarcinoma(84;0.0781)		CCACTTGGCCGCGAGCTTCGA	0.507													5	148					0	0	1	0	0	A	45666374	G	A	45666374	3	1	429	1	0	0	0	0	1	0	0	0	4705	1087	38	1	97	1	DNMT3L	21	45666374	Missense_Mutation	SNP	G	TCGA-S9-A6WI-01A-21D-A33T-08	34723642	45666374	2463521	43	34713											
RGAG4	340526	broad.mit.edu	37	X	71351177	71351177	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6WI-01A-21D-A33T-08	TCGA-S9-A6WI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f85240-c7fa-4026-b140-a777f230e3c9	b796628d-4a83-41f2-a924-33daf125d626	g.chrX:71351177C>T	ENST00000545866.1	-	1	581	c.214G>A	c.(214-216)Gcg>Acg	p.A72T	NHSL2_ENST00000540800.1_Intron|RGAG4_ENST00000609883.1_Missense_Mutation_p.A72T	NM_001024455.3	NP_001019626.1	Q5HYW3	RGAG4_HUMAN	retrotransposon gag domain containing 4	72										cervix(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|skin(1)	24	Renal(35;0.156)					TCACTGAGCGCGAACTCCAAG	0.597													9	131					0	0	1	0	0	T	71351177	C	T	71351177	3	4	429	1	0	0	0	0	1	0	0	0	13327	768	27	1	1499	1	RGAG4	23	71351177	Missense_Mutation	SNP	C	TCGA-S9-A6WI-01A-21D-A33T-08		71351177	83919383	44	34714											
TBC1D8B	54885	broad.mit.edu	37	X	106082571	106082571	+	Missense_Mutation	SNP	G	G	T	rs138021287		TCGA-S9-A6WI-01A-21D-A33T-08	TCGA-S9-A6WI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f85240-c7fa-4026-b140-a777f230e3c9	b796628d-4a83-41f2-a924-33daf125d626	g.chrX:106082571G>T	ENST00000357242.5	+	8	1411	c.1237G>T	c.(1237-1239)Gat>Tat	p.D413Y	TBC1D8B_ENST00000310452.2_Missense_Mutation_p.D413Y|TBC1D8B_ENST00000276175.3_Missense_Mutation_p.D407Y	NM_017752.2	NP_060222.2	Q0IIM8	TBC8B_HUMAN	TBC1 domain family, member 8B (with GRAM domain)	413						intracellular	calcium ion binding|Rab GTPase activator activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						AGAGCCATCTGATAATTTTGA	0.378													22	229					1.28384e-07	1.38573e-07	1	1	0	T	106082571	G	T	106082571	3	4	429	1	0	0	0	0	1	0	0	0	15686	1290	45	5	1267	5	TBC1D8B	23	106082571	Missense_Mutation	SNP	G	TCGA-S9-A6WI-01A-21D-A33T-08	34731394	106082571	49187989	45	34715											
HTR2C	3358	broad.mit.edu	37	X	114082755	114082755	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6WI-01A-21D-A33T-08	TCGA-S9-A6WI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f85240-c7fa-4026-b140-a777f230e3c9	b796628d-4a83-41f2-a924-33daf125d626	g.chrX:114082755C>T	ENST00000276198.1	+	5	1267	c.539C>T	c.(538-540)gCa>gTa	p.A180V	HTR2C_ENST00000371951.1_Missense_Mutation_p.A180V|HTR2C_ENST00000371950.3_Intron	NM_000868.2	NP_000859.1	P28335	5HT2C_HUMAN	5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled	180					cGMP biosynthetic process|ERK1 and ERK2 cascade|feeding behavior|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	cytoplasm|integral to membrane|nucleus|plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|protein binding|serotonin binding|serotonin receptor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50					Chlorprothixene(DB01239)|Clozapine(DB00363)|Dexfenfluramine(DB01191)|Fenfluramine(DB00574)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Tramadol(DB00193)|Ziprasidone(DB00246)	ATTGTTTGGGCAATTTCTATA	0.408													27	155					0	0	1	0	0	T	114082755	C	T	114082755	3	4	429	1	0	0	0	0	1	0	0	0	7487	710	25	2	549	2	HTR2C	23	114082755	Missense_Mutation	SNP	C	TCGA-S9-A6WI-01A-21D-A33T-08	8000184	114082755	41187805	46	34716											
AVPR2	554	broad.mit.edu	37	X	153171401	153171401	+	Silent	SNP	G	G	A	rs143055328		TCGA-S9-A6WI-01A-21D-A33T-08	TCGA-S9-A6WI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f85240-c7fa-4026-b140-a777f230e3c9	b796628d-4a83-41f2-a924-33daf125d626	g.chrX:153171401G>A	ENST00000358927.2	+	3	650	c.441G>A	c.(439-441)gcG>gcA	p.A147A	AVPR2_ENST00000370049.1_Silent_p.A147A|AVPR2_ENST00000337474.5_Silent_p.A147A			P30518	V2R_HUMAN	arginine vasopressin receptor 2	147			A -> V (in dbSNP:rs5200).		activation of adenylate cyclase activity|excretion|G-protein signaling, coupled to cAMP nucleotide second messenger|hemostasis|positive regulation of gene expression|transmembrane transport|water transport	endoplasmic reticulum|endosome|Golgi apparatus|integral to plasma membrane	vasopressin receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	26	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				Conivaptan(DB00872)|Terlipressin(DB02638)|Vasopressin(DB00067)	CCATGCTGGCGTACCGCCATG	0.627													14	159					0	0	1	0	0	A	153171401	G	A	153171401	2	1	429	1	0	0	0	0	0	0	0	1	1231	1132	40	1		1	AVPR2	23	153171401	Silent	SNP	G	TCGA-S9-A6WI-01A-21D-A33T-08	39088646	153171401	2099159	47	34717											
EPHA8	2046	broad.mit.edu	37	1	22903061	22903061	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr1:22903061C>T	ENST00000166244.3	+	3	583	c.511C>T	c.(511-513)Cgc>Tgc	p.R171C	EPHA8_ENST00000538803.1_Missense_Mutation_p.R171C|EPHA8_ENST00000374644.4_Missense_Mutation_p.R171C	NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	171						integral to plasma membrane	ATP binding|ephrin receptor activity	p.R171C(2)		breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		CACGGAGGTGCGCAGTGTGGG	0.582													4	48					0	0	1	0	0	T	22903061	C	T	22903061	3	4	430	1	0	0	0	0	1	0	0	0	5201	768	27	1	521	1	EPHA8	1	22903061	Missense_Mutation	SNP	C	TCGA-S9-A6WL-01A-21D-A33T-08		22903061	226347560	1	34718											
BCL9	607	broad.mit.edu	37	1	147092748	147092748	+	Silent	SNP	G	G	A			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr1:147092748G>A	ENST00000234739.3	+	8	3527	c.2787G>A	c.(2785-2787)ccG>ccA	p.P929P		NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	929	Pro-rich.				Wnt receptor signaling pathway	nucleus	protein binding	p.P929P(2)		breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					TTCCTGCCCCGTCACCTGGAT	0.597			T	"IGH@, IGL@"	B-ALL								4	197					0	0	1	0	0	A	147092748	G	A	147092748	2	1	430	1	0	0	0	0	0	0	0	1	1379	1132	40	1		1	BCL9	1	147092748	Silent	SNP	G	TCGA-S9-A6WL-01A-21D-A33T-08	124189687	147092748	102157873	2	34719											
ARNT	405	broad.mit.edu	37	1	150801696	150801696	+	Missense_Mutation	SNP	C	C	G			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr1:150801696C>G	ENST00000358595.5	-	12	1240	c.1040G>C	c.(1039-1041)aGt>aCt	p.S347T	ARNT_ENST00000505755.1_Missense_Mutation_p.S332T|ARNT_ENST00000354396.2_Missense_Mutation_p.S347T|ARNT_ENST00000515192.1_Missense_Mutation_p.S333T	NM_001197325.1|NM_001668.3|NM_178427.2	NP_001184254.1|NP_001659.1|NP_848514.1	P27540	ARNT_HUMAN	aryl hydrocarbon receptor nuclear translocator	347					positive regulation of hormone biosynthetic process|positive regulation vascular endothelial growth factor production|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|response to hypoxia		aryl hydrocarbon receptor binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|prostate(2)|skin(4)|stomach(1)	34	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.02)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211)			GTTGGGAGAACTAGTTACCTG	0.383			T	ETV6	AML								7	172					0	0	1	0	0	G	150801696	C	G	150801696	3	3	430	1	0	0	0	0	1	0	0	0	964	565	20	4	1373	4	ARNT	1	150801696	Missense_Mutation	SNP	C	TCGA-S9-A6WL-01A-21D-A33T-08	3708948	150801696	98448925	3	34720											
TCHHL1	126637	broad.mit.edu	37	1	152058921	152058921	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr1:152058921G>A	ENST00000368806.1	-	3	1301	c.1237C>T	c.(1237-1239)Cgg>Tgg	p.R413W		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	413							calcium ion binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			ACTAGTGGCCGAGTTTTTCTG	0.443													15	321					0	0	1	0	0	A	152058921	G	A	152058921	3	1	430	1	0	0	0	0	1	0	0	0	15761	1057	37	1	1481	1	TCHHL1	1	152058921	Missense_Mutation	SNP	G	TCGA-S9-A6WL-01A-21D-A33T-08	1257225	152058921	97191700	4	34721											
PKLR	5313	broad.mit.edu	37	1	155269925	155269925	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr1:155269925C>T	ENST00000392414.3	-	2	267	c.154G>A	c.(154-156)Gtg>Atg	p.V52M	PKLR_ENST00000342741.4_Missense_Mutation_p.V83M	NM_181871.3	NP_870986.1	P30613	KPYR_HUMAN	pyruvate kinase, liver and RBC	83			Missing (in PKRD).		endocrine pancreas development|energy reserve metabolic process|glycolysis|positive regulation of cellular metabolic process	cytosol	ATP binding|magnesium ion binding|potassium ion binding|pyruvate kinase activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(78;6.99e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;3.18e-10)|all cancers(21;7.9e-10)|BRCA - Breast invasive adenocarcinoma(34;0.00116)|LUSC - Lung squamous cell carcinoma(543;0.127)		Pyruvic acid(DB00119)	CGAGCAGCCACGGGCTCGGAG	0.582													7	130					0	0	1	0	0	T	155269925	C	T	155269925	3	4	430	1	0	0	0	0	1	0	0	0	12024	536	19	1	1517	1	PKLR	1	155269925	Missense_Mutation	SNP	C	TCGA-S9-A6WL-01A-21D-A33T-08	3211004	155269925	93980696	5	34722											
HMCN1	83872	broad.mit.edu	37	1	185970471	185970471	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr1:185970471T>C	ENST00000271588.4	+	27	4340	c.4111T>C	c.(4111-4113)Tcg>Ccg	p.S1371P	HMCN1_ENST00000367492.2_Missense_Mutation_p.S1371P	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	1371	Ig-like C2-type 11.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TACAAATGTGTCGGTGTTGTT	0.348													47	55					0	0	1	0	0	C	185970471	T	C	185970471	3	2	430	1	0	0	0	0	1	0	0	0	7261	1667	58	3	4217	3	HMCN1	1	185970471	Missense_Mutation	SNP	T	TCGA-S9-A6WL-01A-21D-A33T-08	30700546	185970471	63280150	6	34723											
TMEM183A	92703	broad.mit.edu	37	1	202992124	202992125	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr1:202992124_202992125delTT	ENST00000367242.3	+	8	1167_1168	c.1087_1088delTT	c.(1087-1089)tttfs	p.F363fs		NM_001079809.1|NM_138391.4	NP_001073277.1|NP_612400.3			transmembrane protein 183A											endometrium(1)|large_intestine(2)|lung(1)|skin(3)	7			BRCA - Breast invasive adenocarcinoma(75;0.18)			CGTTCGGCTCTTTGACTGGTGG	0.545													12	96	---	---	---	---						-	202992125	TT	-	202992124	7	5	430	1	0	1	0	1	0	0	0	0	16162	1609	56	0	1117	0	TMEM183A	1	202992124	Frame_Shift_Del	DEL	TT	TCGA-S9-A6WL-01A-21D-A33T-08	17021653	202992124	46258497	7	34724											
ARID4B	51742	broad.mit.edu	37	1	235345318	235345319	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr1:235345318_235345319delCA	ENST00000264183.3	-	20	3412_3413	c.2915_2916delTG	c.(2914-2916)gtgfs	p.V972fs	ARID4B_ENST00000349213.3_Frame_Shift_Del_p.V886fs|ARID4B_ENST00000366603.2_Frame_Shift_Del_p.V972fs	NM_016374.5	NP_057458.4	Q4LE39	ARI4B_HUMAN	AT rich interactive domain 4B (RBP1-like)	972					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding			NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)			CCTCTTCAGCCACAGTCTGCAG	0.5													104	226	---	---	---	---						-	235345319	CA	-	235345318	7	5	430	1	0	1	0	1	0	0	0	0	917	581	21	0	1042	0	ARID4B	1	235345318	Frame_Shift_Del	DEL	CA	TCGA-S9-A6WL-01A-21D-A33T-08	32353194	235345318	13905303	8	34725											
HEATR5B	54497	broad.mit.edu	37	2	37241030	37241033	+	Frame_Shift_Del	DEL	CTCT	CTCT	-			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr2:37241030_37241033delCTCT	ENST00000233099.5	-	27	4330_4333	c.4235_4238delAGAG	c.(4234-4239)gagagtfs	p.ES1412fs	HEATR5B_ENST00000354531.2_Frame_Shift_Del_p.ES1412fs	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	1412							binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				GGTCGTGGCACTCTCTCGGTACAG	0.451													74	187	---	---	---	---						-	37241033	CTCT	-	37241030	7	5	430	1	0	1	0	1	0	0	0	0	7073	565	20	0	2017	0	HEATR5B	2	37241030	Frame_Shift_Del	DEL	CTCT	TCGA-S9-A6WL-01A-21D-A33T-08		37241030	205958343	9	34726											
SLC8A1	6546	broad.mit.edu	37	2	40405554	40405554	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr2:40405554G>A	ENST00000542756.1	-	3	1911	c.1888C>T	c.(1888-1890)Cgc>Tgc	p.R630C	SLC8A1_ENST00000332839.4_Missense_Mutation_p.R630C|SLC8A1_ENST00000406391.2_Intron|SLC8A1-AS1_ENST00000444629.1_RNA|SLC8A1-AS1_ENST00000599740.1_RNA|SLC8A1-AS1_ENST00000593878.1_RNA|SLC8A1-AS1_ENST00000599268.1_RNA|SLC8A1_ENST00000542024.1_Intron|SLC8A1-AS1_ENST00000598247.1_RNA|SLC8A1-AS1_ENST00000596532.1_RNA|SLC8A1-AS1_ENST00000435515.1_RNA|SLC8A1_ENST00000405269.1_Intron|SLC8A1-AS1_ENST00000599956.1_RNA|SLC8A1_ENST00000408028.2_Intron|SLC8A1-AS1_ENST00000593848.1_RNA|SLC8A1-AS1_ENST00000601679.1_RNA|SLC8A1_ENST00000403092.1_Missense_Mutation_p.R630C|SLC8A1-AS1_ENST00000597385.1_RNA|SLC8A1_ENST00000402441.1_Intron|SLC8A1_ENST00000405901.3_Missense_Mutation_p.R630C|SLC8A1-AS1_ENST00000597170.1_RNA|SLC8A1_ENST00000406785.2_Intron			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	630					cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	TCCACCAGGCGGGGCTCTCCA	0.498													44	393					0	0	1	0	0	A	40405554	G	A	40405554	3	1	430	1	0	0	0	0	1	0	0	0	14761	1116	39	1	1177	1	SLC8A1	2	40405554	Missense_Mutation	SNP	G	TCGA-S9-A6WL-01A-21D-A33T-08	3164524	40405554	202793819	10	34727											
INO80B	83444	broad.mit.edu	37	2	74683365	74683367	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr2:74683365_74683367delAGG	ENST00000233331.7	+	4	600_602	c.506_508delAGG	c.(505-510)aaggag>aag	p.E170del	INO80B_ENST00000469849.1_3'UTR|INO80B_ENST00000409917.1_In_Frame_Del_p.E170del	NM_031288.3	NP_112578.2	Q9C086	IN80B_HUMAN	INO80 complex subunit B	170					DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex|nucleolus	metal ion binding|protein binding			endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	13						GACCTCAAGAAGGAGATCAATGA	0.517													10	139	---	---	---	---						-	74683367	AGG	-	74683365	7	5	430	1	0	1	0	1	0	0	0	0	7791	72	3	0	520	0	INO80B	2	74683365	In_Frame_Del	DEL	AGG	TCGA-S9-A6WL-01A-21D-A33T-08	34277811	74683365	168516008	11	34728											
IL1B	3553	broad.mit.edu	37	2	113591112	113591112	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr2:113591112C>T	ENST00000263341.2	-	4	350	c.140G>A	c.(139-141)gGc>gAc	p.G47D	IL1B_ENST00000491056.1_5'UTR	NM_000576.2	NP_000567.1	P01584	IL1B_HUMAN	interleukin 1, beta	47					activation of MAPK activity|anti-apoptosis|apoptosis|cell-cell signaling|cellular response to drug|cellular response to mechanical stimulus|cytokine-mediated signaling pathway|embryo implantation|fever generation|negative regulation of adiponectin secretion|negative regulation of cell proliferation|negative regulation of glucose transport|negative regulation of insulin receptor signaling pathway|negative regulation of lipid catabolic process|negative regulation of MAP kinase activity|positive regulation of angiogenesis|positive regulation of calcidiol 1-monooxygenase activity|positive regulation of cell adhesion molecule production|positive regulation of cell division|positive regulation of fever generation|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of heterotypic cell-cell adhesion|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of interferon-gamma production|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of lipid catabolic process|positive regulation of membrane protein ectodomain proteolysis|positive regulation of mitosis|positive regulation of monocyte chemotactic protein-1 production|positive regulation of myosin light chain kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric oxide biosynthetic process|positive regulation of prostaglandin secretion|positive regulation of protein export from nucleus|positive regulation of T cell proliferation|positive regulation vascular endothelial growth factor production|regulation of insulin secretion|sequestering of triglyceride|smooth muscle adaptation	cytosol|extracellular space	cytokine activity|growth factor activity|interleukin-1 receptor binding|protein domain specific binding			breast(2)|central_nervous_system(1)|large_intestine(1)|lung(8)	12					Anakinra(DB00026)|Minocycline(DB01017)|Procaterol(DB01366)	TAGCTGGATGCCGCCATCCAG	0.612													5	150					0	0	1	0	0	T	113591112	C	T	113591112	3	4	430	1	0	0	0	0	1	0	0	0	7695	739	26	2	685	2	IL1B	2	113591112	Missense_Mutation	SNP	C	TCGA-S9-A6WL-01A-21D-A33T-08	38907747	113591112	129608261	12	34729											
INSIG2	51141	broad.mit.edu	37	2	118865866	118865867	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr2:118865866_118865867delAA	ENST00000245787.4	+	6	852_853	c.646_647delAA	c.(646-648)aaafs	p.K216fs	INSIG2_ENST00000485520.1_3'UTR	NM_016133.2	NP_057217.2	Q9Y5U4	INSI2_HUMAN	insulin induced gene 2	216					ER-nuclear sterol response pathway	SREBP-SCAP-Insig complex				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)	13						GTACGAATGTAAAGTTATCGCA	0.302													15	161	---	---	---	---						-	118865867	AA	-	118865866	7	5	430	1	0	1	0	1	0	0	0	0	7810	363	13	0	664	0	INSIG2	2	118865866	Frame_Shift_Del	DEL	AA	TCGA-S9-A6WL-01A-21D-A33T-08	5274754	118865866	124333507	13	34730											
AGPS	8540	broad.mit.edu	37	2	178402897	178402897	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr2:178402897A>G	ENST00000264167.4	+	20	2097	c.1951A>G	c.(1951-1953)Atc>Gtc	p.I651V	AGPS_ENST00000409888.1_Missense_Mutation_p.I182V	NM_003659.3	NP_003650.1	O00116	ADAS_HUMAN	alkylglycerone phosphate synthase	651					ether lipid biosynthetic process	peroxisomal matrix|peroxisomal membrane|plasma membrane	alkylglycerone-phosphate synthase activity|flavin adenine dinucleotide binding|oxidoreductase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0018)|Epithelial(96;0.00919)|all cancers(119;0.0358)			CCCCAATAACATCTTTGGAAA	0.353													7	256					0	0	1	0	0	G	178402897	A	G	178402897	3	3	430	1	0	0	0	0	1	0	0	0	391	217	8	3	2029	3	AGPS	2	178402897	Missense_Mutation	SNP	A	TCGA-S9-A6WL-01A-21D-A33T-08	59537031	178402897	64796476	14	34731											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	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	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								70	108					0	0	1	0	0	T	209113112	C	T	209113112	3	4	430	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-S9-A6WL-01A-21D-A33T-08	30710215	209113112	34086261	15	34732											
MAP2	4133	broad.mit.edu	37	2	210574671	210574671	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr2:210574671G>A	ENST00000360351.4	+	12	5272	c.4766G>A	c.(4765-4767)gGt>gAt	p.G1589D	MAP2_ENST00000475600.1_3'UTR|MAP2_ENST00000447185.1_Missense_Mutation_p.G1585D|MAP2_ENST00000361559.4_Missense_Mutation_p.G233D|MAP2_ENST00000199940.6_Missense_Mutation_p.G290D|MAP2_ENST00000392194.1_Missense_Mutation_p.G233D	NM_002374.3	NP_002365.3	P11137	MAP2_HUMAN	microtubule-associated protein 2	1589					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	GGGAAGAGTGGTACCTCAACA	0.517													48	73					0	0	1	0	0	A	210574671	G	A	210574671	3	1	430	1	0	0	0	0	1	0	0	0	9285	1261	44	2	4975	2	MAP2	2	210574671	Missense_Mutation	SNP	G	TCGA-S9-A6WL-01A-21D-A33T-08	1461559	210574671	32624702	16	34733											
ERBB4	2066	broad.mit.edu	37	2	212578296	212578296	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr2:212578296T>C	ENST00000342788.4	-	8	1271	c.961A>G	c.(961-963)Aaa>Gaa	p.K321E	ERBB4_ENST00000436443.1_Missense_Mutation_p.K321E|ERBB4_ENST00000402597.1_Missense_Mutation_p.K321E	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	321	Cys-rich.				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		TTACACATTTTAATCCCATTT	0.363										TSP Lung(8;0.080)			52	58					0	0	1	0	0	C	212578296	T	C	212578296	3	2	430	1	0	0	0	0	1	0	0	0	5237	1763	61	3	3049	3	ERBB4	2	212578296	Missense_Mutation	SNP	T	TCGA-S9-A6WL-01A-21D-A33T-08	2003625	212578296	30621077	17	34734											
ZNF142	7701	broad.mit.edu	37	2	219507566	219507566	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr2:219507566T>C	ENST00000411696.2	-	7	4452	c.3673A>G	c.(3673-3675)Att>Gtt	p.I1225V	ZNF142_ENST00000449707.1_Missense_Mutation_p.I1225V			P52746	ZN142_HUMAN	zinc finger protein 142	1225					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		ATGCGGCCAATGCCTGTGTGT	0.577													81	147					0	0	1	0	0	C	219507566	T	C	219507566	3	2	430	1	0	0	0	0	1	0	0	0	17789	1464	51	3	1402	3	ZNF142	2	219507566	Missense_Mutation	SNP	T	TCGA-S9-A6WL-01A-21D-A33T-08	6929270	219507566	23691807	18	34735											
ITM2C	81618	broad.mit.edu	37	2	231729747	231729747	+	Frame_Shift_Del	DEL	A	A	-			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr2:231729747delA	ENST00000326427.6	+	1	133	c.7delA	c.(7-9)aagfs	p.K3fs	ITM2C_ENST00000326407.6_Frame_Shift_Del_p.K3fs|ITM2C_ENST00000335005.6_Frame_Shift_Del_p.K3fs	NM_030926.4	NP_112188.1	Q9NQX7	ITM2C_HUMAN	integral membrane protein 2C	3					negative regulation of neuron projection development|neuron differentiation	Golgi apparatus|integral to membrane|lysosomal membrane|perinuclear region of cytoplasm	beta-amyloid binding			cervix(2)|lung(1)|ovary(1)|skin(1)	5		Renal(207;0.0112)|all_lung(227;0.0741)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)|Lung NSC(271;0.204)		Epithelial(121;8.47e-12)|all cancers(144;3.44e-09)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)		AGCCATGGTGAAGATTAGCTT	0.716													2	4	---	---	---	---						-	231729747	A	-	231729747	7	5	430	1	0	1	0	1	0	0	0	0	7958	247	9	0	9	0	ITM2C	2	231729747	Frame_Shift_Del	DEL	A	TCGA-S9-A6WL-01A-21D-A33T-08	12222181	231729747	11469626	19	34736											
ALPI	248	broad.mit.edu	37	2	233322995	233322995	+	Missense_Mutation	SNP	G	G	A	rs151137290		TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr2:233322995G>A	ENST00000295463.3	+	9	1137	c.1060G>A	c.(1060-1062)Gac>Aac	p.D354N		NM_001631.3	NP_001622.2	P09923	PPBI_HUMAN	alkaline phosphatase, intestinal	354					phosphorylation	anchored to membrane|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding|protein binding	p.D354N(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(2)|upper_aerodigestive_tract(1)	24		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.64e-16)|Kidney(3;9.71e-08)|KIRC - Kidney renal clear cell carcinoma(3;2.74e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000763)|Lung(119;0.00564)|LUSC - Lung squamous cell carcinoma(224;0.00746)		GGTCATGTTCGACGACGCCAT	0.622													30	75					0	0	1	0	0	A	233322995	G	A	233322995	3	1	430	1	0	0	0	0	1	0	0	0	539	1058	37	1	1094	1	ALPI	2	233322995	Missense_Mutation	SNP	G	TCGA-S9-A6WL-01A-21D-A33T-08	1593248	233322995	9876378	20	34737											
LRTM1	57408	broad.mit.edu	37	3	54952872	54952872	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr3:54952872C>T	ENST00000273286.5	-	3	814	c.652G>A	c.(652-654)Gga>Aga	p.G218R	CACNA2D3_ENST00000490478.1_Intron|LRTM1_ENST00000493075.1_Missense_Mutation_p.G142R|CACNA2D3_ENST00000415676.2_Intron|CACNA2D3_ENST00000474759.1_Intron|CACNA2D3_ENST00000288197.5_Intron	NM_020678.2	NP_065729.1	Q9HBL6	LRTM1_HUMAN	leucine-rich repeats and transmembrane domains 1	218	LRRCT.					integral to membrane				breast(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(4)	21				KIRC - Kidney renal clear cell carcinoma(284;0.00975)|Kidney(284;0.0112)|OV - Ovarian serous cystadenocarcinoma(275;0.0502)		AGGTCCTTTCCCTTCCAGGTG	0.517													4	93					0	0	1	0	0	T	54952872	C	T	54952872	3	4	430	1	0	0	0	0	1	0	0	0	9089	632	22	2	389	2	LRTM1	3	54952872	Missense_Mutation	SNP	C	TCGA-S9-A6WL-01A-21D-A33T-08		54952872	143069558	21	34738											
ZBTB20	26137	broad.mit.edu	37	3	114058228	114058230	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr3:114058228_114058230delAAG	ENST00000462705.1	-	12	2450_2452	c.1629_1631delCTT	c.(1627-1632)tcctta>tca	p.L544del	ZBTB20_ENST00000464560.1_In_Frame_Del_p.L544del|ZBTB20_ENST00000474710.1_In_Frame_Del_p.L617del|ZBTB20_ENST00000471418.1_In_Frame_Del_p.L544del|ZBTB20_ENST00000357258.3_In_Frame_Del_p.L544del|ZBTB20_ENST00000393785.2_In_Frame_Del_p.L544del|ZBTB20_ENST00000481632.1_In_Frame_Del_p.L544del	NM_001164343.1	NP_001157815.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	617					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		GTAATCCTTTAAGGAGAAGGAGC	0.507													59	93	---	---	---	---						-	114058230	AAG	-	114058228	7	5	430	1	0	1	0	1	0	0	0	0	17588	372	13	0	379	0	ZBTB20	3	114058228	In_Frame_Del	DEL	AAG	TCGA-S9-A6WL-01A-21D-A33T-08	59105356	114058228	83964202	22	34739											
KALRN	8997	broad.mit.edu	37	3	124418865	124418865	+	Nonsense_Mutation	SNP	C	C	T			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr3:124418865C>T	ENST00000291478.5	+	23	3053	c.2890C>T	c.(2890-2892)Cga>Tga	p.R964*	KALRN_ENST00000360013.3_Nonsense_Mutation_p.R2661*|KALRN_ENST00000428018.2_Nonsense_Mutation_p.R932*	NM_007064.3	NP_008995.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase						apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						GGAGTTTGTGCGACTTCCAGA	0.597													5	230					0	0	1	0	0	T	124418865	C	T	124418865	4	4	430	1	0	0	0	0	0	1	0	0	8019	760	27	1	8359	1	KALRN	3	124418865	Nonsense_Mutation	SNP	C	TCGA-S9-A6WL-01A-21D-A33T-08	10360637	124418865	73603565	23	34740											
PLXND1	23129	broad.mit.edu	37	3	129291460	129291460	+	Silent	SNP	C	C	T			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr3:129291460C>T	ENST00000393239.1	-	15	3247	c.3069G>A	c.(3067-3069)acG>acA	p.T1023T	PLXND1_ENST00000324093.4_Silent_p.T1023T			Q9Y4D7	PLXD1_HUMAN	plexin D1	1023	IPT/TIG 2.				axon guidance	integral to membrane|intracellular|plasma membrane			PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						ACATCAGCTCCGTGCAGGGGT	0.632													5	11					0	0	1	0	0	T	129291460	C	T	129291460	2	4	430	1	0	0	0	0	0	0	0	1	12175	639	23	1		1	PLXND1	3	129291460	Silent	SNP	C	TCGA-S9-A6WL-01A-21D-A33T-08	4872595	129291460	68730970	24	34741											
EPHB1	2047	broad.mit.edu	37	3	134967317	134967317	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr3:134967317G>A	ENST00000398015.3	+	14	3026	c.2656G>A	c.(2656-2658)Gca>Aca	p.A886T	EPHB1_ENST00000493838.1_Missense_Mutation_p.A447T	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	886						integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						CCGGAACCCGGCAAGTCTCAA	0.552													3	53					0	0	1	0	0	A	134967317	G	A	134967317	3	1	430	1	0	0	0	0	1	0	0	0	5202	1203	42	2	2710	2	EPHB1	3	134967317	Missense_Mutation	SNP	G	TCGA-S9-A6WL-01A-21D-A33T-08	5675857	134967317	63055113	25	34742											
LMLN	89782	broad.mit.edu	37	3	197702982	197702982	+	Splice_Site	SNP	G	G	A			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr3:197702982G>A	ENST00000330198.4	+	4	453	c.431G>A	c.(430-432)aGa>aAa	p.R144K	LMLN_ENST00000332636.5_Splice_Site_p.R92K|LMLN_ENST00000420910.2_Splice_Site_p.R144K|LMLN_ENST00000482695.1_Splice_Site_p.R92K	NM_033029.3	NP_149018.2	Q96KR4	LMLN_HUMAN	leishmanolysin-like (metallopeptidase M8 family)	144					cell adhesion|cell division|mitosis|proteolysis	cytoplasm|membrane	metalloendopeptidase activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)	Lung NSC(153;0.132)	Epithelial(36;9.84e-24)|all cancers(36;3.18e-22)|OV - Ovarian serous cystadenocarcinoma(49;5.35e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.111)		TTACTTAGCAGGTATGTCACA	0.373													3	87					0	0	1	0	0	A	197702982	G	A	197702982	5	1	430	1	0	0	0	0	0	0	1	0	8888	1014	35	2	445	2	LMLN	3	197702982	Splice_Site	SNP	G	TCGA-S9-A6WL-01A-21D-A33T-08	62735665	197702982	319448	26	34743											
RBPJ	3516	broad.mit.edu	37	4	26426019	26426022	+	Frame_Shift_Del	DEL	AGTT	AGTT	-			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr4:26426019_26426022delAGTT	ENST00000342320.4	+	6	725_728	c.549_552delAGTT	c.(547-552)acagttfs	p.TV183fs	RBPJ_ENST00000361572.6_Frame_Shift_Del_p.TV197fs|RBPJ_ENST00000355476.3_Frame_Shift_Del_p.TV183fs|RBPJ_ENST00000342295.1_Frame_Shift_Del_p.TV197fs|RBPJ_ENST00000507561.1_Frame_Shift_Del_p.TV162fs|RBPJ_ENST00000504907.1_Frame_Shift_Del_p.TV183fs|RBPJ_ENST00000348160.4_Frame_Shift_Del_p.TV184fs|RBPJ_ENST00000345843.3_Frame_Shift_Del_p.TV182fs			Q06330	SUH_HUMAN	recombination signal binding protein for immunoglobulin kappa J region	197					DNA recombination|negative regulation of transcription, DNA-dependent|positive regulation of transcription of Notch receptor target	cytoplasm|nucleolus|nucleoplasm	DNA binding|protein binding|recombinase activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)	15		Breast(46;0.0503)				GATCCCAGACAGTTAGTACCAGAT	0.412													29	152	---	---	---	---						-	26426022	AGTT	-	26426019	7	5	430	1	0	1	0	1	0	0	0	0	13213	175	7	0	676	0	RBPJ	4	26426019	Frame_Shift_Del	DEL	AGTT	TCGA-S9-A6WL-01A-21D-A33T-08		26426019	164728257	27	34744											
GABRA4	2557	broad.mit.edu	37	4	46967170	46967170	+	Silent	SNP	G	G	A			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr4:46967170G>A	ENST00000264318.3	-	8	1933	c.951C>T	c.(949-951)acC>acT	p.T317T		NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 4	317					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	AGTCCATGGCGGTAGCATAGG	0.433													4	150					0	0	1	0	0	A	46967170	G	A	46967170	2	1	430	1	0	0	0	0	0	0	0	1	6198	1103	39	1		1	GABRA4	4	46967170	Silent	SNP	G	TCGA-S9-A6WL-01A-21D-A33T-08	20541151	46967170	144187106	28	34745											
MUC7	4589	broad.mit.edu	37	4	71346666	71346666	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr4:71346666C>T	ENST00000413702.1	+	4	493	c.205C>T	c.(205-207)Cgc>Tgc	p.R69C	MUC7_ENST00000514512.1_3'UTR|MUC7_ENST00000304887.5_Missense_Mutation_p.R69C|MUC7_ENST00000456088.1_Missense_Mutation_p.R69C	NM_001145006.1	NP_001138478.1	Q8TAX7	MUC7_HUMAN	mucin 7, secreted	69						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)			TCTGCACAAACGCTGTAGGCC	0.443													24	106					0	0	1	0	0	T	71346666	C	T	71346666	3	4	430	1	0	0	0	0	1	0	0	0	10029	536	19	1	211	1	MUC7	4	71346666	Missense_Mutation	SNP	C	TCGA-S9-A6WL-01A-21D-A33T-08	24379496	71346666	119807610	29	34746											
SMAD1	4086	broad.mit.edu	37	4	146474982	146474983	+	Frame_Shift_Ins	INS	-	-	A			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr4:146474982_146474983insA	ENST00000515385.1	+	6	1586_1587	c.1044_1045insA	c.(1045-1047)agtfs	p.S349fs	SMAD1_ENST00000394092.2_Frame_Shift_Ins_p.S349fs|SMAD1_ENST00000302085.4_Frame_Shift_Ins_p.S349fs			Q15797	SMAD1_HUMAN	SMAD family member 1	349	MH2.				BMP signaling pathway|embryonic pattern specification|primary miRNA processing|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway	cytosol|integral to membrane|nuclear inner membrane	co-SMAD binding|I-SMAD binding|identical protein binding|protein kinase binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity			endometrium(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	17	all_hematologic(180;0.151)					CCGAATGCCTTAGTGACAGTAG	0.391													12	189	---	---	---	---						A	146474983	-	A	146474982	7	5	430	1	0	1	1	0	0	0	0	0	14811	1741	61	0	1062	0	SMAD1	4	146474982	Frame_Shift_Ins	INS	-	TCGA-S9-A6WL-01A-21D-A33T-08	75128316	146474982	44679294	30	34747											
DDX60L	91351	broad.mit.edu	37	4	169383094	169383094	+	Missense_Mutation	SNP	G	G	A	rs35627377		TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr4:169383094G>A	ENST00000511577.1	-	5	609	c.362C>T	c.(361-363)aCg>aTg	p.T121M	DDX60L_ENST00000260184.7_Missense_Mutation_p.T121M|DDX60L_ENST00000505890.1_Missense_Mutation_p.T121M			Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	121							ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		AGAAAACTCCGTTTGCACATC	0.378													6	39					0	0	1	0	0	A	169383094	G	A	169383094	3	1	430	1	0	0	0	0	1	0	0	0	4402	1145	40	1	4894	1	DDX60L	4	169383094	Missense_Mutation	SNP	G	TCGA-S9-A6WL-01A-21D-A33T-08	22908112	169383094	21771182	31	34748											
WDR17	116966	broad.mit.edu	37	4	177067236	177067236	+	Silent	SNP	G	G	A			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr4:177067236G>A	ENST00000393643.2	+	12	1872	c.1620G>A	c.(1618-1620)ggG>ggA	p.G540G	WDR17_ENST00000508596.1_Silent_p.G540G|WDR17_ENST00000507824.2_Silent_p.G547G|WDR17_ENST00000280190.4_Silent_p.G564G	NM_170710.4	NP_733828.2	Q8IZU2	WDR17_HUMAN	WD repeat domain 17	564										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		TATTTAGTGGGCATACAGCAA	0.388													4	130					0	0	1	0	0	A	177067236	G	A	177067236	2	1	430	1	0	0	0	0	0	0	0	1	17337	1190	42	2		2	WDR17	4	177067236	Silent	SNP	G	TCGA-S9-A6WL-01A-21D-A33T-08	7684142	177067236	14087040	32	34749											
TLR3	7098	broad.mit.edu	37	4	187004790	187004790	+	Silent	SNP	G	G	A			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr4:187004790G>A	ENST00000296795.3	+	4	2054	c.1950G>A	c.(1948-1950)acG>acA	p.T650T	TLR3_ENST00000504367.1_Silent_p.T373T	NM_003265.2	NP_003256.1	O15455	TLR3_HUMAN	toll-like receptor 3		LRRCT.				activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|defense response to bacterium|defense response to virus|detection of virus|hyperosmotic response|I-kappaB phosphorylation|inflammatory response|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of osteoclast differentiation|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 3 signaling pathway	endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane	double-stranded RNA binding|transmembrane receptor activity			breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)		TTGATTGCACGTGTGAAAGTA	0.443													4	197					0	0	1	0	0	A	187004790	G	A	187004790	2	1	430	1	0	0	0	0	0	0	0	1	16012	1132	40	1		1	TLR3	4	187004790	Silent	SNP	G	TCGA-S9-A6WL-01A-21D-A33T-08	9937554	187004790	4149486	33	34750											
DHX29	54505	broad.mit.edu	37	5	54585244	54585245	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr5:54585244_54585245delAA	ENST00000251636.5	-	8	1067_1068	c.919_920delTT	c.(919-921)ttafs	p.L307fs	RP11-506H20.1_ENST00000506435.1_RNA	NM_019030.2	NP_061903.2	Q7Z478	DHX29_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 29	307							ATP binding|ATP-dependent helicase activity|translation initiation factor activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|lung(6)|ovary(4)|prostate(1)|skin(3)|urinary_tract(2)	46		Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183)				ATGGTCTTCTAAAGTTTCCATT	0.292													21	105	---	---	---	---						-	54585245	AA	-	54585244	7	5	430	1	0	1	0	1	0	0	0	0	4531	372	13	0	3269	0	DHX29	5	54585244	Frame_Shift_Del	DEL	AA	TCGA-S9-A6WL-01A-21D-A33T-08		54585244	126330016	34	34751											
RAPGEF6	51735	broad.mit.edu	37	5	130766860	130766860	+	Missense_Mutation	SNP	T	T	A			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr5:130766860T>A	ENST00000509018.1	-	26	4362	c.4157A>T	c.(4156-4158)gAt>gTt	p.D1386V	RAPGEF6_ENST00000507093.1_Missense_Mutation_p.D1394V|RAPGEF6_ENST00000307984.5_Missense_Mutation_p.D1399V|CTC-432M15.3_ENST00000514667.1_Missense_Mutation_p.D1436V|RAPGEF6_ENST00000296859.6_Missense_Mutation_p.D1394V	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6	1386	Ser-rich.				Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		GTTCAAAAAATCCCAGCTTTT	0.453													9	201					0	0	1	0	0	A	130766860	T	A	130766860	3	1	430	1	0	0	0	0	1	0	0	0	13100	1435	50	4	660	4	RAPGEF6	5	130766860	Missense_Mutation	SNP	T	TCGA-S9-A6WL-01A-21D-A33T-08	76181616	130766860	50148400	35	34752											
C5orf24	134553	broad.mit.edu	37	5	134190831	134190833	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr5:134190831_134190833delAAG	ENST00000394976.3	+	2	469_471	c.241_243delAAG	c.(241-243)aagdel	p.K82del	C5orf24_ENST00000435259.2_In_Frame_Del_p.K82del|C5orf24_ENST00000338051.4_In_Frame_Del_p.K82del|C5orf24_ENST00000504727.1_In_Frame_Del_p.K82del	NM_001135586.1	NP_001129058.1	Q7Z6I8	CE024_HUMAN	chromosome 5 open reading frame 24	82								p.K81N(1)		breast(2)|endometrium(2)|lung(2)	6			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			ACTAAAGAAAAAGAAGAATCTCA	0.478													59	106	---	---	---	---						-	134190833	AAG	-	134190831	7	5	430	1	0	1	0	1	0	0	0	0	2302	15	1	0	243	0	C5orf24	5	134190831	In_Frame_Del	DEL	AAG	TCGA-S9-A6WL-01A-21D-A33T-08	3423971	134190831	46724429	36	34753											
PCDHB12	56124	broad.mit.edu	37	5	140590356	140590356	+	Frame_Shift_Del	DEL	C	C	-			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr5:140590356delC	ENST00000239450.2	+	1	2066	c.1877delC	c.(1876-1878)accfs	p.T626fs	PCDHB12_ENST00000541609.1_Frame_Shift_Del_p.T289fs	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN		626	Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GAGGTGCGCACCGCCAGGCTG	0.701													20	198	---	---	---	---						-	140590356	C	-	140590356	7	5	430	1	0	1	0	1	0	0	0	0	11584	507	18	0	1879	0	PCDHB12	5	140590356	Frame_Shift_Del	DEL	C	TCGA-S9-A6WL-01A-21D-A33T-08	6399525	140590356	40324904	37	34754											
TBC1D9B	23061	broad.mit.edu	37	5	179297323	179297323	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr5:179297323C>T	ENST00000356834.3	-	16	2694	c.2657G>A	c.(2656-2658)cGc>cAc	p.R886H	TBC1D9B_ENST00000355235.3_Missense_Mutation_p.R886H|TBC1D9B_ENST00000519746.1_Missense_Mutation_p.R62H|TBC1D9B_ENST00000444477.2_Missense_Mutation_p.R44H	NM_198868.2	NP_942568.2	Q66K14	TBC9B_HUMAN	TBC1 domain family, member 9B (with GRAM domain)	886	EF-hand.					integral to membrane|intracellular	calcium ion binding|Rab GTPase activator activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	28	all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCTGAACATGCGCCCTGCCAG	0.592													4	238					0	0	1	0	0	T	179297323	C	T	179297323	3	4	430	1	0	0	0	0	1	0	0	0	15688	768	27	1	1123	1	TBC1D9B	5	179297323	Missense_Mutation	SNP	C	TCGA-S9-A6WL-01A-21D-A33T-08	38706967	179297323	1617937	38	34755											
HIST1H1D	3007	broad.mit.edu	37	6	26234788	26234788	+	Missense_Mutation	SNP	C	C	A			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr6:26234788C>A	ENST00000244534.5	-	1	428	c.374G>T	c.(373-375)gGc>gTc	p.G125V		NM_005320.2	NP_005311.1	P16402	H13_HUMAN	histone cluster 1, H1d	125					nucleosome assembly	nucleosome|nucleus	DNA binding			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23		all_hematologic(11;0.0945)|Acute lymphoblastic leukemia(11;0.167)				CTTGGCTGCGCCAGCCTTTTT	0.567													24	148					9.95505e-16	1.08371e-15	1	1	0	A	26234788	C	A	26234788	3	1	430	1	0	0	0	0	1	0	0	0	7166	739	26	5	295	5	HIST1H1D	6	26234788	Missense_Mutation	SNP	C	TCGA-S9-A6WL-01A-21D-A33T-08		26234788	144880279	39	34756											
RGL2	5863	broad.mit.edu	37	6	33266242	33266244	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr6:33266242_33266244delTCC	ENST00000497454.1	-	2	639_641	c.144_146delGGA	c.(142-147)gaggaa>gaa	p.48_49EE>E	RGL2_ENST00000444031.2_Intron|RGL2_ENST00000437840.2_Intron	NM_001243738.1|NM_004761.4	NP_001230667.1|NP_004752.1	O15211	RGL2_HUMAN	ral guanine nucleotide dissociation stimulator-like 2	48					Ras protein signal transduction|regulation of small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity			breast(2)|cervix(2)|endometrium(7)|kidney(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	34						ctcttcttcttcctcctcctctt	0.631													6	6	---	---	---	---						-	33266244	TCC	-	33266242	7	5	430	1	0	1	0	1	0	0	0	0	13329	1783	62	0	2255	0	RGL2	6	33266242	In_Frame_Del	DEL	TCC	TCGA-S9-A6WL-01A-21D-A33T-08	7031454	33266242	137848825	40	34757											
ZNF76	7629	broad.mit.edu	37	6	35258096	35258097	+	Frame_Shift_Ins	INS	-	-	A			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr6:35258096_35258097insA	ENST00000373953.3	+	6	752_753	c.486_487insA	c.(487-489)agafs	p.R163fs	ZNF76_ENST00000339411.5_Frame_Shift_Ins_p.R163fs|ZNF76_ENST00000440666.2_Frame_Shift_Ins_p.R137fs	NM_003427.3	NP_003418.2	P36508	ZNF76_HUMAN	zinc finger protein 76	163					regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)	16						AAGTTGGAGACAGAGCATTCCG	0.525													15	519	---	---	---	---						A	35258097	-	A	35258096	7	5	430	1	0	1	1	0	0	0	0	0	18185	477	17	0	504	0	ZNF76	6	35258096	Frame_Shift_Ins	INS	-	TCGA-S9-A6WL-01A-21D-A33T-08	1991854	35258096	135856971	41	34758											
ABCA13	154664	broad.mit.edu	37	7	48315024	48315024	+	Missense_Mutation	SNP	T	T	G			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr7:48315024T>G	ENST00000435803.1	+	17	5785	c.5761T>G	c.(5761-5763)Tgg>Ggg	p.W1921G		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	1921					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						GCAGAAATTTTGGCATAAGAT	0.383													4	297					0	0	1	0	0	G	48315024	T	G	48315024	3	3	430	1	0	0	0	0	1	0	0	0	31	1812	63	5	5656	5	ABCA13	7	48315024	Missense_Mutation	SNP	T	TCGA-S9-A6WL-01A-21D-A33T-08		48315024	110823639	42	34759											
TRIM73	375593	broad.mit.edu	37	7	75028510	75028510	+	Frame_Shift_Del	DEL	T	T	-			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr7:75028510delT	ENST00000323819.3	+	2	493	c.293delT	c.(292-294)cttfs	p.L98fs	TRIM73_ENST00000450434.1_5'UTR|TRIM73_ENST00000447409.2_Frame_Shift_Del_p.L98fs|TRIM73_ENST00000437796.1_Frame_Shift_Del_p.L98fs|TRIM73_ENST00000430211.1_Frame_Shift_Del_p.L98fs	NM_198924.2	NP_944606.2	Q86UV6	TRI74_HUMAN	tripartite motif containing 73	98						intracellular	zinc ion binding			endometrium(1)|large_intestine(1)|lung(1)|pancreas(1)	4						CCGCTCAGCCTTTTCTGCGAG	0.667													2	4	---	---	---	---						-	75028510	T	-	75028510	7	5	430	1	0	1	0	1	0	0	0	0	16607	1609	56	0	295	0	TRIM73	7	75028510	Frame_Shift_Del	DEL	T	TCGA-S9-A6WL-01A-21D-A33T-08	26713486	75028510	84110153	43	34760											
MUC17	140453	broad.mit.edu	37	7	100680099	100680099	+	Missense_Mutation	SNP	C	C	T	rs147751797		TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr7:100680099C>T	ENST00000306151.4	+	3	5466	c.5402C>T	c.(5401-5403)tCg>tTg	p.S1801L		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1801	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					ATACCAACCTCGACTCTTAGT	0.507													72	672					0	0	1	0	0	T	100680099	C	T	100680099	3	4	430	1	0	0	0	0	1	0	0	0	10022	893	31	1	5412	1	MUC17	7	100680099	Missense_Mutation	SNP	C	TCGA-S9-A6WL-01A-21D-A33T-08	25651589	100680099	58458564	44	34761											
TMEM168	64418	broad.mit.edu	37	7	112424079	112424079	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr7:112424079C>T	ENST00000312814.6	-	2	1362	c.802G>A	c.(802-804)Gtt>Att	p.V268I	TMEM168_ENST00000454074.1_Missense_Mutation_p.V268I	NM_022484.4	NP_071929.3	Q9H0V1	TM168_HUMAN	transmembrane protein 168							integral to membrane|transport vesicle				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|stomach(1)	32						CCAGCAAAAACGACTGAAAGT	0.358													134	303					0	0	1	0	0	T	112424079	C	T	112424079	3	4	430	1	0	0	0	0	1	0	0	0	16143	536	19	1	1307	1	TMEM168	7	112424079	Missense_Mutation	SNP	C	TCGA-S9-A6WL-01A-21D-A33T-08	11743980	112424079	46714584	45	34762											
PPP1R3A	5506	broad.mit.edu	37	7	113520053	113520053	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr7:113520053A>G	ENST00000284601.3	-	4	1162	c.1094T>C	c.(1093-1095)aTa>aCa	p.I365T		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	365					glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						GTCAGTACATATTTCACCATG	0.388													4	334					0	0	1	0	0	G	113520053	A	G	113520053	3	3	430	1	0	0	0	0	1	0	0	0	12420	449	16	3	2278	3	PPP1R3A	7	113520053	Missense_Mutation	SNP	A	TCGA-S9-A6WL-01A-21D-A33T-08	1095974	113520053	45618610	46	34763											
OR2A12	346525	broad.mit.edu	37	7	143792960	143792960	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr7:143792960G>A	ENST00000408949.2	+	1	820	c.760G>A	c.(760-762)Gcc>Acc	p.A254T		NM_001004135.1	NP_001004135.1	Q8NGT7	O2A12_HUMAN	olfactory receptor, family 2, subfamily A, member 12	254					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)	25	Melanoma(164;0.0783)					CTTTGGCAGCGCCATTGTCAT	0.562													56	407					0	0	1	0	0	A	143792960	G	A	143792960	3	1	430	1	0	0	0	0	1	0	0	0	11023	1087	38	1	762	1	OR2A12	7	143792960	Missense_Mutation	SNP	G	TCGA-S9-A6WL-01A-21D-A33T-08	30272907	143792960	15345703	47	34764											
SSPO	23145	broad.mit.edu	37	7	149474811	149474811	+	RNA	SNP	C	C	T			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr7:149474811C>T	ENST00000378016.2	+	0	610							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CTTCCACTACCGCACCTTTGA	0.687													9	32					0	0	1	0	0	T	149474811	C	T	149474811	1	4	430	0	1	0	0	0	0	0	0	0	15245	652	23	1		1	SSPO	7	149474811	RNA	SNP	C	TCGA-S9-A6WL-01A-21D-A33T-08	5681851	149474811	9663852	48	34765											
GIMAP4	55303	broad.mit.edu	37	7	150269790	150269790	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr7:150269790G>A	ENST00000255945.2	+	3	807	c.632G>A	c.(631-633)cGc>cAc	p.R211H	GIMAP4_ENST00000461940.1_Missense_Mutation_p.R225H|GIMAP4_ENST00000494750.1_3'UTR	NM_018326.2	NP_060796.1	Q9NUV9	GIMA4_HUMAN	GTPase, IMAP family member 4	211							GTP binding			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(82;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CTGATCCAGCGCGTGGTGAGG	0.542													16	157					0	0	1	0	0	A	150269790	G	A	150269790	3	1	430	1	0	0	0	0	1	0	0	0	6423	1087	38	1	638	1	GIMAP4	7	150269790	Missense_Mutation	SNP	G	TCGA-S9-A6WL-01A-21D-A33T-08	794979	150269790	8868873	49	34766											
OPRK1	4986	broad.mit.edu	37	8	54142359	54142359	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr8:54142359A>G	ENST00000265572.3	-	4	938	c.641T>C	c.(640-642)tTc>tCc	p.F214S	RP11-162D9.3_ENST00000524425.1_RNA|OPRK1_ENST00000520287.1_Missense_Mutation_p.F214S|OPRK1_ENST00000524278.1_Missense_Mutation_p.F125S	NM_000912.3	NP_000903.2	P41145	OPRK_HUMAN	opioid receptor, kappa 1	214					behavior|immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception|synaptic transmission|viral genome replication	integral to plasma membrane	kappa-opioid receptor activity|protein binding			NS(2)|breast(3)|endometrium(3)|kidney(12)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	43		all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136)			Buprenorphine(DB00921)|Butorphanol(DB00611)|Cocaine(DB00907)|Codeine(DB00318)|Dezocine(DB01209)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Meperidine(DB00454)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Tramadol(DB00193)	ATCATCTGGGAACTGCAAGGA	0.473													16	48					0	0	1	0	0	G	54142359	A	G	54142359	3	3	430	1	0	0	0	0	1	0	0	0	10933	246	9	3	505	3	OPRK1	8	54142359	Missense_Mutation	SNP	A	TCGA-S9-A6WL-01A-21D-A33T-08		54142359	92221663	50	34767											
MSC	9242	broad.mit.edu	37	8	72756362	72756362	+	Nonsense_Mutation	SNP	G	G	A			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr8:72756362G>A	ENST00000325509.4	-	1	341	c.52C>T	c.(52-54)Cag>Tag	p.Q18*	RP11-383H13.1_ENST00000521467.1_Intron|RP11-383H13.1_ENST00000537896.1_Intron|RP11-383H13.1_ENST00000524152.1_Intron|RP11-383H13.1_ENST00000457356.4_3'UTR	NM_005098.3	NP_005089.2	O60682	MUSC_HUMAN	musculin	18					transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			endometrium(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(4)|skin(2)	26	Breast(64;0.176)		Epithelial(68;0.137)|BRCA - Breast invasive adenocarcinoma(89;0.203)			TACTCCCGCTGCAGCCCCCGA	0.692													25	36					0	0	1	0	0	A	72756362	G	A	72756362	4	1	430	1	0	0	0	0	0	1	0	0	9917	1328	46	2	576	2	MSC	8	72756362	Nonsense_Mutation	SNP	G	TCGA-S9-A6WL-01A-21D-A33T-08	18614003	72756362	73607660	51	34768											
TYRP1	7306	broad.mit.edu	37	9	12702411	12702414	+	Frame_Shift_Del	DEL	ACAA	ACAA	-			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr9:12702411_12702414delACAA	ENST00000388918.5	+	5	1183_1186	c.1054_1057delACAA	c.(1054-1059)acaaacfs	p.TN352fs	TYRP1_ENST00000381136.2_Frame_Shift_Del_p.TN62fs|TYRP1_ENST00000381137.2_Frame_Shift_Del_p.TN62fs|RP11-3L8.3_ENST00000417638.1_RNA	NM_000550.2	NP_000541.1	P17643	TYRP1_HUMAN	tyrosinase-related protein 1	352					melanin biosynthetic process	clathrin-coated endocytic vesicle membrane|endosome membrane|integral to membrane|melanosome membrane	copper ion binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, another compound as one donor, and incorporation of one atom of oxygen|protein heterodimerization activity|protein homodimerization activity	p.N353fs*31(2)		NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|stomach(1)	22		all_cancers(3;3.1e-05)|all_lung(3;1.7e-06)|Lung NSC(3;2.09e-06)|all_epithelial(3;0.000695)|all_hematologic(3;0.0033)|Acute lymphoblastic leukemia(23;0.0744)		GBM - Glioblastoma multiforme(50;9.85e-06)		TTCCAACTCTACAAACAGTTTCCG	0.387									Oculocutaneous Albinism				10	91	---	---	---	---						-	12702414	ACAA	-	12702411	7	5	430	1	0	1	0	1	0	0	0	0	16878	391	14	0	1068	0	TYRP1	9	12702411	Frame_Shift_Del	DEL	ACAA	TCGA-S9-A6WL-01A-21D-A33T-08		12702411	128511020	52	34769											
RRAGA	10670	broad.mit.edu	37	9	19050538	19050538	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr9:19050538G>A	ENST00000380527.1	+	1	1167	c.881G>A	c.(880-882)cGg>cAg	p.R294Q		NM_006570.4	NP_006561.1	Q7L523	RRAGA_HUMAN	Ras-related GTP binding A	294					apoptosis|cellular protein localization|cellular response to amino acid stimulus|positive regulation of cytolysis|positive regulation of TOR signaling cascade|virus-host interaction	Golgi apparatus|lysosome|nucleus	GTP binding|phosphoprotein binding|protein heterodimerization activity|protein homodimerization activity			endometrium(1)|large_intestine(1)|lung(1)	3						CGCAATGCCCGGAAACACTTT	0.483													4	245					0	0	1	0	0	A	19050538	G	A	19050538	3	1	430	1	0	0	0	0	1	0	0	0	13724	1116	39	1	883	1	RRAGA	9	19050538	Missense_Mutation	SNP	G	TCGA-S9-A6WL-01A-21D-A33T-08	6348127	19050538	122162893	53	34770											
ACO1	48	broad.mit.edu	37	9	32448928	32448928	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr9:32448928G>A	ENST00000309951.6	+	20	2543	c.2405G>A	c.(2404-2406)cGc>cAc	p.R802H	ACO1_ENST00000541043.1_Missense_Mutation_p.R703H|ACO1_ENST00000379923.1_Missense_Mutation_p.R802H	NM_002197.2	NP_002188.1	P21399	ACOC_HUMAN	aconitase 1, soluble						citrate metabolic process|response to iron(II) ion|tricarboxylic acid cycle	cytosol|endoplasmic reticulum|Golgi apparatus	4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron-responsive element binding|isocitrate hydro-lyase (cis-aconitate-forming) activity|metal ion binding|protein binding			breast(1)|endometrium(7)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	30			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;3.94e-06)		AGCTACGAGCGCATTCACCGC	0.483													4	126					0	0	1	0	0	A	32448928	G	A	32448928	3	1	430	1	0	0	0	0	1	0	0	0	146	1087	38	1	2479	1	ACO1	9	32448928	Missense_Mutation	SNP	G	TCGA-S9-A6WL-01A-21D-A33T-08	13398390	32448928	108764503	54	34771											
VCP	7415	broad.mit.edu	37	9	35060873	35060873	+	Silent	SNP	T	T	G			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr9:35060873T>G	ENST00000358901.6	-	12	2302	c.1407A>C	c.(1405-1407)gtA>gtC	p.V469V		NM_007126.3	NP_009057.1	P55072	TERA_HUMAN	valosin containing protein	469					activation of caspase activity|double-strand break repair|endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|retrograde protein transport, ER to cytosol	cytosol|endoplasmic reticulum|microsome|nucleus|proteasome complex	ATP binding|ATPase activity|lipid binding|polyubiquitin binding|protein domain specific binding|protein phosphatase binding			breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			GTGGCACCTCTACCACGGTTT	0.562													15	211					0	0	1	0	0	G	35060873	T	G	35060873	2	3	430	1	0	0	0	0	0	0	0	1	17200	1509	53	5		5	VCP	9	35060873	Silent	SNP	T	TCGA-S9-A6WL-01A-21D-A33T-08	2611945	35060873	106152558	55	34772											
ABCA1	19	broad.mit.edu	37	9	107547732	107547732	+	Missense_Mutation	SNP	C	C	A			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr9:107547732C>A	ENST00000374736.3	-	49	6984	c.6590G>T	c.(6589-6591)aGc>aTc	p.S2197I		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	2197					Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	TCGCTTTTTGCTCTGGGAGAG	0.433													4	156					0.150653	0.152426	1	1	0	A	107547732	C	A	107547732	3	1	430	1	0	0	0	0	1	0	0	0	28	797	28	4	203	4	ABCA1	9	107547732	Missense_Mutation	SNP	C	TCGA-S9-A6WL-01A-21D-A33T-08	72486859	107547732	33665699	56	34773											
SLC34A3	142680	broad.mit.edu	37	9	140130623	140130623	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr9:140130623G>A	ENST00000538474.1	+	13	1779	c.1555G>A	c.(1555-1557)Ggt>Agt	p.G519S	SLC34A3_ENST00000361134.2_Missense_Mutation_p.G519S	NM_001177316.1|NM_001177317.1	NP_001170787|NP_001170788	Q8N130	NPT2C_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 3	519					cellular phosphate ion homeostasis	apical plasma membrane|integral to membrane	sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity			kidney(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		CGCTGTCGGGGGTCCCCTGGT	0.726											OREG0019630	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	21					0	0	1	0	0	A	140130623	G	A	140130623	3	1	430	1	0	0	0	0	1	0	0	0	14624	1232	43	2	1601	2	SLC34A3	9	140130623	Missense_Mutation	SNP	G	TCGA-S9-A6WL-01A-21D-A33T-08	32582891	140130623	1082808	57	34774											
PNPLA7	375775	broad.mit.edu	37	9	140356488	140356488	+	Silent	SNP	C	C	T			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr9:140356488C>T	ENST00000406427.1	-	32	3987	c.3651G>A	c.(3649-3651)gtG>gtA	p.V1217V	PNPLA7_ENST00000492278.1_5'UTR|PNPLA7_ENST00000371457.1_Silent_p.V798V|PNPLA7_ENST00000277531.4_Silent_p.V1192V	NM_001098537.1	NP_001092007.1	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	1192					lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		GCTGGTAGCCCACTTCCTGTG	0.677													6	15					0	0	1	0	0	T	140356488	C	T	140356488	2	4	430	1	0	0	0	0	0	0	0	1	12218	581	21	2		2	PNPLA7	9	140356488	Silent	SNP	C	TCGA-S9-A6WL-01A-21D-A33T-08	225865	140356488	856943	58	34775											
MRC1	4360	broad.mit.edu	37	10	17949595	17949595	+	Nonsense_Mutation	SNP	G	G	A			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr10:17949595G>A	ENST00000331429.2	+	28	4062	c.3959G>A	c.(3958-3960)tGg>tAg	p.W1320*																	breast(1)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						TTTGTCAACTGGAACACAGGA	0.393													53	88					0	0	1	0	0	A	17949595	G	A	17949595	4	1	430	1	0	0	0	0	0	1	0	0	9805	1357	47	2	4069	2	MRC1	10	17949595	Nonsense_Mutation	SNP	G	TCGA-S9-A6WL-01A-21D-A33T-08		17949595	117585152	59	34776											
RET	5979	broad.mit.edu	37	10	43622039	43622039	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr10:43622039C>T	ENST00000355710.3	+	19	3288	c.3056C>T	c.(3055-3057)gCg>gTg	p.A1019V	RET_ENST00000340058.5_Missense_Mutation_p.A1019V	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	1019					homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Sunitinib(DB01268)	TTGGACCTTGCGGCGTCCACT	0.557		1	"T, Mis, N, F"	"H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"	"medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"	"medullary thyroid,  papillary thyroid, pheochromocytoma"	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma				6	507					0	0	1	0	0	T	43622039	C	T	43622039	3	4	430	1	0	0	0	0	1	0	0	0	13287	768	27	1	3130	1	RET	10	43622039	Missense_Mutation	SNP	C	TCGA-S9-A6WL-01A-21D-A33T-08	25672444	43622039	91912708	60	34777											
MINPP1	9562	broad.mit.edu	37	10	89311947	89311947	+	Silent	SNP	G	G	A			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr10:89311947G>A	ENST00000371996.4	+	5	1217	c.1176G>A	c.(1174-1176)gcG>gcA	p.A392A	MINPP1_ENST00000472891.1_3'UTR|MINPP1_ENST00000371994.4_3'UTR|MINPP1_ENST00000536010.1_Silent_p.A191A	NM_004897.4	NP_004888.2	Q9UNW1	MINP1_HUMAN	multiple inositol-polyphosphate phosphatase 1	392					bone mineralization|polyphosphate metabolic process	endoplasmic reticulum lumen	acid phosphatase activity|bisphosphoglycerate 3-phosphatase activity|multiple inositol-polyphosphate phosphatase activity|phosphohistidine phosphatase activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|urinary_tract(2)	5		Colorectal(252;0.122)		UCEC - Uterine corpus endometrioid carcinoma (6;0.00123)		CCCTAACAGCGTACAATTACA	0.428													5	249					0	0	1	0	0	A	89311947	G	A	89311947	2	1	430	1	0	0	0	0	0	0	0	1	9636	1132	40	1		1	MINPP1	10	89311947	Silent	SNP	G	TCGA-S9-A6WL-01A-21D-A33T-08	45689908	89311947	46222800	61	34778											
INPP5A	3632	broad.mit.edu	37	10	134523946	134523946	+	Silent	SNP	C	C	T			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr10:134523946C>T	ENST00000368594.3	+	8	910	c.633C>T	c.(631-633)ggC>ggT	p.G211G	INPP5A_ENST00000487614.1_3'UTR|INPP5A_ENST00000368593.3_Silent_p.G211G	NM_005539.3	NP_005530.3	Q14642	I5P1_HUMAN	inositol polyphosphate-5-phosphatase, 40kDa	211					cell communication	membrane	inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|PH domain binding			cervix(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		all_cancers(35;8.59e-13)|all_epithelial(44;5.49e-09)|Lung NSC(174;0.000854)|all_lung(145;0.00146)|all_neural(114;0.0299)|Colorectal(31;0.0599)|Breast(234;0.0849)|Melanoma(40;0.124)|all_hematologic(284;0.196)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;0.000102)|Epithelial(32;0.00023)|all cancers(32;0.000326)		AGGCACTGGGCTACGTGCtgg	0.597													10	65					0	0	1	0	0	T	134523946	C	T	134523946	2	4	430	1	0	0	0	0	0	0	0	1	7798	784	28	2		2	INPP5A	10	134523946	Silent	SNP	C	TCGA-S9-A6WL-01A-21D-A33T-08	45211999	134523946	1010801	62	34779											
RPS3	6188	broad.mit.edu	37	11	75115087	75115089	+	In_Frame_Del	DEL	TCA	TCA	-			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr11:75115087_75115089delTCA	ENST00000531188.1	+	5	436_438	c.374_376delTCA	c.(373-378)ttcatc>ttc	p.I126del	RPS3_ENST00000524851.1_In_Frame_Del_p.I126del|RPS3_ENST00000278572.6_In_Frame_Del_p.I142del|RPS3_ENST00000527446.1_In_Frame_Del_p.I126del|RPS3_ENST00000534440.1_Intron|RPS3_ENST00000526608.1_In_Frame_Del_p.I114del|RPS3_ENST00000529285.1_Intron	NM_001005.4|NM_001260506.1|NM_001260507.1	NP_000996.2|NP_001247435.1|NP_001247436.1	P23396	RS3_HUMAN	ribosomal protein S3	126					activation of caspase activity|endocrine pancreas development|induction of apoptosis|negative regulation of DNA repair|negative regulation of NF-kappaB transcription factor activity|response to DNA damage stimulus|translational elongation|translational initiation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleus|ruffle membrane	damaged DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|endonuclease activity|iron-sulfur cluster binding|mRNA binding|NF-kappaB binding|protein kinase binding|structural constituent of ribosome			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	6						GTGCTGCGGTTCATCATGGAGAG	0.488													7	182	---	---	---	---						-	75115089	TCA	-	75115087	7	5	430	1	0	1	0	1	0	0	0	0	13695	1783	62	0	392	0	RPS3	11	75115087	In_Frame_Del	DEL	TCA	TCGA-S9-A6WL-01A-21D-A33T-08		75115087	59891429	63	34780											
RSF1	51773	broad.mit.edu	37	11	77413493	77413493	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr11:77413493C>T	ENST00000308488.6	-	6	1083	c.781G>A	c.(781-783)Gat>Aat	p.D261N	RSF1_ENST00000360355.2_Missense_Mutation_p.D230N|RSF1_ENST00000480887.1_Missense_Mutation_p.D9N			Q96T23	RSF1_HUMAN	remodeling and spacing factor 1	261	Glu-rich.				CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent	RSF complex	histone binding|protein binding|zinc ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)			TTTTCTAAATCCATAGGCTGC	0.338													75	152					0	0	1	0	0	T	77413493	C	T	77413493	3	4	430	1	0	0	0	0	1	0	0	0	13751	855	30	2	3588	2	RSF1	11	77413493	Missense_Mutation	SNP	C	TCGA-S9-A6WL-01A-21D-A33T-08	2298406	77413493	57593023	64	34781											
GRM5	2915	broad.mit.edu	37	11	88386475	88386475	+	Missense_Mutation	SNP	C	C	G			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr11:88386475C>G	ENST00000418177.2	-	4	1375	c.1008G>C	c.(1006-1008)tgG>tgC	p.W336C	GRM5_ENST00000305447.4_Missense_Mutation_p.W336C|GRM5_ENST00000455756.2_Missense_Mutation_p.W336C|GRM5_ENST00000393297.1_Missense_Mutation_p.W336C|GRM5_ENST00000305432.5_Missense_Mutation_p.W336C			P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	336					activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	AATCATCAAACCACTTGACAT	0.478													20	89					0	0	1	0	0	G	88386475	C	G	88386475	3	3	430	1	0	0	0	0	1	0	0	0	6841	508	18	5	2658	5	GRM5	11	88386475	Missense_Mutation	SNP	C	TCGA-S9-A6WL-01A-21D-A33T-08	10972982	88386475	46620041	65	34782											
KRT71	112802	broad.mit.edu	37	12	52946639	52946639	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr12:52946639G>A	ENST00000267119.5	-	1	292	c.223C>T	c.(223-225)Cgg>Tgg	p.R75W		NM_033448.2	NP_258259.1	Q3SY84	K2C71_HUMAN	keratin 71	75	Gly-rich.|Head.						structural molecule activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.194)		CCACTGGCCCGGCCCCGGCCA	0.642													48	165					0	0	1	0	0	A	52946639	G	A	52946639	3	1	430	1	0	0	0	0	1	0	0	0	8527	1115	39	1	1384	1	KRT71	12	52946639	Missense_Mutation	SNP	G	TCGA-S9-A6WL-01A-21D-A33T-08		52946639	80905256	66	34783											
ANAPC5	51433	broad.mit.edu	37	12	121775117	121775117	+	Missense_Mutation	SNP	A	A	T			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr12:121775117A>T	ENST00000261819.3	-	6	857	c.736T>A	c.(736-738)Ttt>Att	p.F246I	ANAPC5_ENST00000344395.4_Missense_Mutation_p.F147I|ANAPC5_ENST00000441917.2_Missense_Mutation_p.F147I|ANAPC5_ENST00000541887.1_Missense_Mutation_p.F246I|ANAPC5_ENST00000536366.1_Missense_Mutation_p.F125I	NM_016237.4	NP_057321.2	Q9UJX4	APC5_HUMAN	anaphase promoting complex subunit 5	246					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding|ubiquitin-protein ligase activity			breast(6)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(3)	31	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					TCAGGATTAAATTTCAACAAA	0.358													63	210					0	0	1	0	0	T	121775117	A	T	121775117	3	4	430	1	0	0	0	0	1	0	0	0	601	101	4	4	1579	4	ANAPC5	12	121775117	Missense_Mutation	SNP	A	TCGA-S9-A6WL-01A-21D-A33T-08	68828478	121775117	12076778	67	34784											
ARL6IP4	51329	broad.mit.edu	37	12	123466320	123466322	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr12:123466320_123466322delGAA	ENST00000315580.5	+	3	1060_1062	c.732_734delGAA	c.(730-735)ctgaag>ctg	p.K247del	ARL6IP4_ENST00000392435.2_In_Frame_Del_p.K228del|ARL6IP4_ENST00000357866.4_In_Frame_Del_p.K116del|RP11-197N18.2_ENST00000540866.2_RNA|ARL6IP4_ENST00000412505.2_In_Frame_Del_p.K105del|ARL6IP4_ENST00000454885.2_In_Frame_Del_p.K113del|ARL6IP4_ENST00000426960.2_In_Frame_Del_p.K105del|ARL6IP4_ENST00000453766.2_In_Frame_Del_p.K239del|ARL6IP4_ENST00000543566.1_In_Frame_Del_p.K228del|ARL6IP4_ENST00000439686.2_In_Frame_Del_p.K116del			Q66PJ3	AR6P4_HUMAN	ADP-ribosylation-like factor 6 interacting protein 4	247	Lys-rich.				RNA splicing	nucleus						all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.11e-05)|Epithelial(86;0.000127)|BRCA - Breast invasive adenocarcinoma(302;0.107)		ggaagaagctgaagaagaagggc	0.596													5	5	---	---	---	---						-	123466322	GAA	-	123466320	7	5	430	1	0	1	0	1	0	0	0	0	942	1277	45	0	742	0	ARL6IP4	12	123466320	In_Frame_Del	DEL	GAA	TCGA-S9-A6WL-01A-21D-A33T-08	1691203	123466320	10385575	68	34785											
KBTBD7	84078	broad.mit.edu	37	13	41768288	41768288	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr13:41768288C>T	ENST00000379483.3	-	1	414	c.106G>A	c.(106-108)Ggt>Agt	p.G36S		NM_032138.4	NP_115514.2	Q8WVZ9	KBTB7_HUMAN	kelch repeat and BTB (POZ) domain containing 7	36							protein binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(4)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Lung NSC(96;0.000105)|Breast(139;0.00715)|Prostate(109;0.0233)|Lung SC(185;0.0367)		all cancers(112;6.21e-09)|Epithelial(112;6.99e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000196)|GBM - Glioblastoma multiforme(144;0.000857)|BRCA - Breast invasive adenocarcinoma(63;0.0669)		TCCTCTGGACCCGTGAAAAAG	0.637													5	236					0	0	1	0	0	T	41768288	C	T	41768288	3	4	430	1	0	0	0	0	1	0	0	0	8042	623	22	2	1952	2	KBTBD7	13	41768288	Missense_Mutation	SNP	C	TCGA-S9-A6WL-01A-21D-A33T-08		41768288	73401590	69	34786											
KIF26A	26153	broad.mit.edu	37	14	104633229	104633231	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr14:104633229_104633231delGAA	ENST00000315264.7	+	4	918_920	c.540_542delGAA	c.(538-543)aggaag>agg	p.K182del	KIF26A_ENST00000423312.2_In_Frame_Del_p.K321del			Q9ULI4	KI26A_HUMAN	kinesin family member 26A	321					blood coagulation|enteric nervous system development|microtubule-based movement|negative regulation of signal transduction|regulation of cell growth by extracellular stimulus	cytosol|microtubule	ATP binding|microtubule binding|microtubule motor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)		CCTCCAAGAGGAAGAAGCCCCAC	0.704													5	9	---	---	---	---						-	104633231	GAA	-	104633229	7	5	430	1	0	1	0	1	0	0	0	0	8336	1165	41	0	975	0	KIF26A	14	104633229	In_Frame_Del	DEL	GAA	TCGA-S9-A6WL-01A-21D-A33T-08		104633229	2716311	70	34787											
SEMA6D	80031	broad.mit.edu	37	15	48053942	48053943	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr15:48053942_48053943delTT	ENST00000316364.5	+	7	971_972	c.532_533delTT	c.(532-534)tttfs	p.F178fs	SEMA6D_ENST00000389432.2_Frame_Shift_Del_p.F178fs|SEMA6D_ENST00000537942.1_Frame_Shift_Del_p.F178fs|SEMA6D_ENST00000558816.1_Frame_Shift_Del_p.F178fs|SEMA6D_ENST00000358066.4_Frame_Shift_Del_p.F178fs|SEMA6D_ENST00000389433.2_Frame_Shift_Del_p.F178fs|SEMA6D_ENST00000558014.1_Frame_Shift_Del_p.F178fs|SEMA6D_ENST00000355997.3_Frame_Shift_Del_p.F178fs|SEMA6D_ENST00000389428.3_Frame_Shift_Del_p.F178fs|SEMA6D_ENST00000354744.4_Frame_Shift_Del_p.F178fs|SEMA6D_ENST00000536845.2_Frame_Shift_Del_p.F178fs|SEMA6D_ENST00000389425.3_Frame_Shift_Del_p.F178fs	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	178	Sema.				axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity			biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		TGTTGCCCTCTTTGCTGGTAAG	0.356													18	166	---	---	---	---						-	48053943	TT	-	48053942	7	5	430	1	0	1	0	1	0	0	0	0	14096	1609	56	0	554	0	SEMA6D	15	48053942	Frame_Shift_Del	DEL	TT	TCGA-S9-A6WL-01A-21D-A33T-08		48053942	54477450	71	34788											
DMXL2	23312	broad.mit.edu	37	15	51772904	51772906	+	In_Frame_Del	DEL	TCT	TCT	-			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr15:51772904_51772906delTCT	ENST00000251076.5	-	24	6684_6686	c.6397_6399delAGA	c.(6397-6399)agadel	p.R2133del	DMXL2_ENST00000543779.2_In_Frame_Del_p.R2133del|DMXL2_ENST00000449909.3_In_Frame_Del_p.R1497del|RP11-707P17.1_ENST00000561007.1_RNA	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	2133						cell junction|synaptic vesicle membrane	Rab GTPase binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		TGGCCTGCAATCTTCTTCTTTCT	0.433													91	207	---	---	---	---						-	51772906	TCT	-	51772904	7	5	430	1	0	1	0	1	0	0	0	0	4623	1432	50	0	2794	0	DMXL2	15	51772904	In_Frame_Del	DEL	TCT	TCGA-S9-A6WL-01A-21D-A33T-08	3718962	51772904	50758488	72	34789											
TLN2	83660	broad.mit.edu	37	15	63009793	63009793	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr15:63009793G>A	ENST00000561311.1	+	23	3012	c.2782G>A	c.(2782-2784)Gca>Aca	p.A928T	TLN2_ENST00000306829.6_Missense_Mutation_p.A928T			Q9Y4G6	TLN2_HUMAN	talin 2	928	Ala-rich.				cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						CAAGCAGGCCGCAGCGGCAGC	0.557													3	18					0	0	1	0	0	A	63009793	G	A	63009793	3	1	430	1	0	0	0	0	1	0	0	0	16008	1087	38	1	2864	1	TLN2	15	63009793	Missense_Mutation	SNP	G	TCGA-S9-A6WL-01A-21D-A33T-08	11236889	63009793	39521599	73	34790											
KBTBD13	390594	broad.mit.edu	37	15	65369306	65369306	+	Silent	SNP	C	C	T			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr15:65369306C>T	ENST00000432196.2	+	1	153	c.153C>T	c.(151-153)ggC>ggT	p.G51G		NM_001101362.2	NP_001094832.1	C9JR72	KBTBD_HUMAN	kelch repeat and BTB (POZ) domain containing 13	51	BTB.					cytoplasm				lung(1)|prostate(1)|skin(1)	3						TGCGCCTGGGCGTTCTGAGCG	0.736													4	7					0	0	1	0	0	T	65369306	C	T	65369306	2	4	430	1	0	0	0	0	0	0	0	1	8036	755	27	1		1	KBTBD13	15	65369306	Silent	SNP	C	TCGA-S9-A6WL-01A-21D-A33T-08	2359513	65369306	37162086	74	34791											
DNAJA4	55466	broad.mit.edu	37	15	78566734	78566736	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr15:78566734_78566736delAGA	ENST00000394855.3	+	5	929_931	c.701_703delAGA	c.(700-705)gagaag>gag	p.K236del	DNAJA4_ENST00000343789.3_In_Frame_Del_p.K207del|DNAJA4_ENST00000394852.3_In_Frame_Del_p.K207del|DNAJA4_ENST00000446172.2_In_Frame_Del_p.K180del	NM_018602.3	NP_061072.3	Q8WW22	DNJA4_HUMAN	DnaJ (Hsp40) homolog, subfamily A, member 4	207					protein folding|response to heat	membrane	ATP binding|heat shock protein binding|metal ion binding|unfolded protein binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	8						GTGATCCGTGAGAAGAAGATTAT	0.576													35	72	---	---	---	---						-	78566736	AGA	-	78566734	7	5	430	1	0	1	0	1	0	0	0	0	4641	304	11	0	774	0	DNAJA4	15	78566734	In_Frame_Del	DEL	AGA	TCGA-S9-A6WL-01A-21D-A33T-08	13197428	78566734	23964658	75	34792											
ZKSCAN2	342357	broad.mit.edu	37	16	25268072	25268075	+	Frame_Shift_Del	DEL	TCTT	TCTT	-			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr16:25268072_25268075delTCTT	ENST00000328086.7	-	1	1177_1180	c.374_377delAAGA	c.(373-378)aaagagfs	p.KE125fs		NM_001012981.4	NP_001012999.3	Q63HK3	ZKSC2_HUMAN	zinc finger with KRAB and SCAN domains 2	125	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36				GBM - Glioblastoma multiforme(48;0.0378)		TCTTCCAGTCTCTTTCTCCAAATG	0.475													71	119	---	---	---	---						-	25268075	TCTT	-	25268072	7	5	430	1	0	1	0	1	0	0	0	0	17745	1551	54	0	2554	0	ZKSCAN2	16	25268072	Frame_Shift_Del	DEL	TCTT	TCGA-S9-A6WL-01A-21D-A33T-08		25268072	65086681	76	34793											
MMP15	4324	broad.mit.edu	37	16	58077146	58077146	+	Missense_Mutation	SNP	C	C	G			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr16:58077146C>G	ENST00000219271.3	+	8	2121	c.1336C>G	c.(1336-1338)Ctg>Gtg	p.L446V		NM_002428.2	NP_002419.1	P51511	MMP15_HUMAN	matrix metallopeptidase 15 (membrane-inserted)	446	Hemopexin-like 2.				protein modification process|proteolysis	extracellular matrix|integral to plasma membrane	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|protein binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	18						AGAAGCGAACCTGGAGCCCGG	0.632													9	19					0	0	1	0	0	G	58077146	C	G	58077146	3	3	430	1	0	0	0	0	1	0	0	0	9702	680	24	4	1366	4	MMP15	16	58077146	Missense_Mutation	SNP	C	TCGA-S9-A6WL-01A-21D-A33T-08	32809074	58077146	32277607	77	34794											
CNTNAP4	85445	broad.mit.edu	37	16	76461496	76461499	+	Splice_Site	DEL	AGTA	AGTA	-			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr16:76461496_76461499delAGTA	ENST00000307431.8	+	5	920	c.535delAGTA	c.(535-537)agt>gt	p.S180fs	CNTNAP4_ENST00000476707.1_Splice_Site_p.S184fs|CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000377504.4_Splice_Site_p.S180fs|CNTNAP4_ENST00000478060.1_Splice_Site_p.S156fs	NM_033401.3	NP_207837.2	Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	181					cell adhesion|signal transduction	integral to membrane	receptor binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						ATGTGCATACAGTAAGTGTTTGTT	0.392													13	72	---	---	---	---						-	76461499	AGTA	-	76461496	8	5	430	1	0	1	0	1	0	0	1	0	3672	202	7	0	565	0	CNTNAP4	16	76461496	Splice_Site	DEL	AGTA	TCGA-S9-A6WL-01A-21D-A33T-08	18384350	76461496	13893257	78	34795											
OR1A2	26189	broad.mit.edu	37	17	3101421	3101421	+	Silent	SNP	C	C	T	rs150553361	byFrequency	TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr17:3101421C>T	ENST00000381951.1	+	1	609	c.609C>T	c.(607-609)gtC>gtT	p.V203V		NM_012352.1	NP_036484.1	Q9Y585	OR1A2_HUMAN	olfactory receptor, family 1, subfamily A, member 2	203					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(4)|stomach(2)	18						ACCTAGGGGTCGGCGTTTTCT	0.433													139	255					0	0	1	0	0	T	3101421	C	T	3101421	2	4	430	1	0	0	0	0	0	0	0	1	10998	871	31	1		1	OR1A2	17	3101421	Silent	SNP	C	TCGA-S9-A6WL-01A-21D-A33T-08		3101421	78093789	79	34796											
SLC47A2	146802	broad.mit.edu	37	17	19583320	19583322	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr17:19583320_19583322delCTG	ENST00000350657.5	-	17	1639_1641	c.1465_1467delCAG	c.(1465-1467)cagdel	p.Q489del	SLC47A2_ENST00000325411.5_In_Frame_Del_p.Q511del|SLC47A2_ENST00000463318.1_5'UTR	NM_001099646.1|NM_001256663.1	NP_001093116.1|NP_001243592.1	Q86VL8	S47A2_HUMAN	solute carrier family 47 (multidrug and toxin extrusion), member 2	511						integral to membrane|plasma membrane	drug:hydrogen antiporter activity			endometrium(2)|kidney(3)|large_intestine(2)|lung(1)|ovary(1)	9	all_cancers(12;2.3e-05)|all_epithelial(12;0.0024)|Breast(13;0.245)					TCTCTGCTCTCTGCTGCTGCTGC	0.502													8	138	---	---	---	---						-	19583322	CTG	-	19583320	7	5	430	1	0	1	0	1	0	0	0	0	14703	912	32	0	283	0	SLC47A2	17	19583320	In_Frame_Del	DEL	CTG	TCGA-S9-A6WL-01A-21D-A33T-08	16481899	19583320	61611890	80	34797											
DNAJC7	7266	broad.mit.edu	37	17	40133976	40133978	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr17:40133976_40133978delCTT	ENST00000457167.4	-	12	1515_1517	c.1279_1281delAAG	c.(1279-1281)aagdel	p.K427del	DNAJC7_ENST00000316603.7_In_Frame_Del_p.K371del|DNAJC7_ENST00000426588.3_In_Frame_Del_p.K371del	NM_003315.3	NP_003306.3	Q99615	DNJC7_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 7	427	J.				chaperone cofactor-dependent protein refolding	cytoplasm|cytoskeleton|nucleus	heat shock protein binding|unfolded protein binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)	9		all_cancers(22;0.00273)|Breast(137;0.00104)|all_epithelial(22;0.0305)				CTTCCTTGAACTTCTTCTCCTCC	0.458													17	145	---	---	---	---						-	40133978	CTT	-	40133976	7	5	430	1	0	1	0	1	0	0	0	0	4681	564	20	0	215	0	DNAJC7	17	40133976	In_Frame_Del	DEL	CTT	TCGA-S9-A6WL-01A-21D-A33T-08	20550656	40133976	41061234	81	34798											
MTMR4	9110	broad.mit.edu	37	17	56569912	56569913	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr17:56569912_56569913delCA	ENST00000323456.5	-	18	3493_3494	c.3369_3370delTG	c.(3367-3372)tgtgacfs	p.CD1123fs	MTMR4_ENST00000579925.1_Frame_Shift_Del_p.CD1066fs	NM_004687.4	NP_004678.3	Q9NYA4	MTMR4_HUMAN	myotubularin related protein 4	1123						cytoplasm|membrane	metal ion binding|protein tyrosine phosphatase activity			breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36	Medulloblastoma(34;0.127)|all_neural(34;0.237)					AATTCACAGTCACAGTTATAGC	0.46													34	572	---	---	---	---						-	56569913	CA	-	56569912	7	5	430	1	0	1	0	1	0	0	0	0	9994	826	29	0	225	0	MTMR4	17	56569912	Frame_Shift_Del	DEL	CA	TCGA-S9-A6WL-01A-21D-A33T-08	16435936	56569912	24625298	82	34799											
TEX2	55852	broad.mit.edu	37	17	62238162	62238164	+	Splice_Site	DEL	CTT	CTT	-			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr17:62238162_62238164delCTT	ENST00000258991.3	-	8	2906_2908	c.2822_2824delAAG	c.(2821-2826)gaaggt>ggt	p.E941del	TEX2_ENST00000583097.1_Splice_Site_p.E934del|TEX2_ENST00000584379.1_Splice_Site_p.E934del			Q8IWB9	TEX2_HUMAN	testis expressed 2	934					signal transduction|sphingolipid metabolic process	integral to membrane				breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)		GCCCCTTACCCTTCTTTGCCAAT	0.458													7	653	---	---	---	---						-	62238164	CTT	-	62238162	8	5	430	1	0	1	0	1	0	0	1	0	15840	695	24	0	600	0	TEX2	17	62238162	Splice_Site	DEL	CTT	TCGA-S9-A6WL-01A-21D-A33T-08	5668250	62238162	18957048	83	34800											
UPF1	5976	broad.mit.edu	37	19	18960909	18960909	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr19:18960909G>A	ENST00000262803.5	+	4	759	c.487G>A	c.(487-489)Gca>Aca	p.A163T	UPF1_ENST00000599848.1_Missense_Mutation_p.A163T|UPF1_ENST00000600310.1_3'UTR	NM_002911.3	NP_002902.2	Q92900	RENT1_HUMAN	UPF1 regulator of nonsense transcripts homolog (yeast)	163	Sufficient for interaction with RENT2.				cell cycle|DNA repair|DNA replication|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination	chromatin|cytoplasmic mRNA processing body|exon-exon junction complex	ATP binding|ATP-dependent RNA helicase activity|chromatin binding|DNA binding|protein binding|RNA binding|zinc ion binding	p.A163T(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						CCTTGTGAGGGCAAAATGCAA	0.517													4	201					0	0	1	0	0	A	18960909	G	A	18960909	3	1	430	1	0	0	0	0	1	0	0	0	17063	1203	42	2	501	2	UPF1	19	18960909	Missense_Mutation	SNP	G	TCGA-S9-A6WL-01A-21D-A33T-08		18960909	40168074	84	34801											
NCCRP1	342897	broad.mit.edu	37	19	39691074	39691074	+	Missense_Mutation	SNP	C	C	A			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr19:39691074C>A	ENST00000339852.4	+	5	659	c.637C>A	c.(637-639)Cac>Aac	p.H213N		NM_001001414.1	NP_001001414.1	Q6ZVX7	NCRP1_HUMAN	non-specific cytotoxic cell receptor protein 1 homolog (zebrafish)	213	FBA.				protein catabolic process					kidney(1)|large_intestine(2)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	10						TGCTCAGCACCACGTGGCCCC	0.682													57	97					7.41606e-26	8.17668e-26	1	1	0	A	39691074	C	A	39691074	3	1	430	1	0	0	0	0	1	0	0	0	10260	594	21	5	655	5	NCCRP1	19	39691074	Missense_Mutation	SNP	C	TCGA-S9-A6WL-01A-21D-A33T-08	20730165	39691074	19437909	85	34802											
SCAF1	58506	broad.mit.edu	37	19	50157637	50157637	+	Silent	SNP	C	C	A			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr19:50157637C>A	ENST00000360565.3	+	8	3472	c.3348C>A	c.(3346-3348)gcC>gcA	p.A1116A		NM_021228.2	NP_067051.2	Q9H7N4	SFR19_HUMAN	SR-related CTD-associated factor 1	1116					mRNA processing|RNA splicing	nucleus	RNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	20		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)		TGGAAGAAGCCAACCTGGCGA	0.597													3	51					1	1	1	1	0	A	50157637	C	A	50157637	2	1	430	1	0	0	0	0	0	0	0	1	13921	581	21	5		5	SCAF1	19	50157637	Silent	SNP	C	TCGA-S9-A6WL-01A-21D-A33T-08	10466563	50157637	8971346	86	34803											
HAO1	54363	broad.mit.edu	37	20	7866234	7866234	+	Frame_Shift_Del	DEL	C	C	-			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr20:7866234delC	ENST00000378789.3	-	7	1027	c.976delG	c.(976-978)gagfs	p.E326fs		NM_017545.2	NP_060015.1	Q9UJM8	HAOX1_HUMAN	hydroxyacid oxidase (glycolate oxidase) 1	326	FMN hydroxy acid dehydrogenase.				cellular nitrogen compound metabolic process|fatty acid alpha-oxidation|glycolate catabolic process|glyoxylate metabolic process	peroxisomal matrix	FMN binding|glycolate oxidase activity|glyoxylate oxidase activity	p.E326*(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						ACACCTTTCTCCCCCTAACCA	0.363													8	110	---	---	---	---						-	7866234	C	-	7866234	7	5	430	1	0	1	0	1	0	0	0	0	6992	864	30	0	144	0	HAO1	20	7866234	Frame_Shift_Del	DEL	C	TCGA-S9-A6WL-01A-21D-A33T-08		7866234	55159286	87	34804											
DSTN	11034	broad.mit.edu	37	20	17581431	17581431	+	Missense_Mutation	SNP	A	A	C			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr20:17581431A>C	ENST00000246069.7	+	2	398	c.52A>C	c.(52-54)Atg>Ctg	p.M18L	DSTN_ENST00000474024.1_Start_Codon_SNP_p.M1L	NM_006870.3	NP_006861.1	P60981	DEST_HUMAN	destrin (actin depolymerizing factor)		ADF-H.				actin filament severing|actin polymerization or depolymerization		actin binding			endometrium(1)|large_intestine(5)|lung(8)|skin(1)	15						TTTTTATGACATGAAAGTTCG	0.358													4	99					0	0	1	0	0	C	17581431	A	C	17581431	3	2	430	1	0	0	0	0	1	0	0	0	4810	217	8	4	58	4	DSTN	20	17581431	Missense_Mutation	SNP	A	TCGA-S9-A6WL-01A-21D-A33T-08	9715197	17581431	45444089	88	34805											
C20orf26	26074	broad.mit.edu	37	20	20056149	20056149	+	Silent	SNP	T	T	C			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr20:20056149T>C	ENST00000245957.5	+	6	532	c.456T>C	c.(454-456)acT>acC	p.T152T	C20orf26_ENST00000389656.3_5'UTR|C20orf26_ENST00000451767.2_Silent_p.T152T|C20orf26_ENST00000377309.2_5'UTR|C20orf26_ENST00000377306.1_Silent_p.T152T	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN	chromosome 20 open reading frame 26	152										NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		CTCTCATAACTGTTTTTGACC	0.403													65	194					0	0	1	0	0	C	20056149	T	C	20056149	2	2	430	1	0	0	0	0	0	0	0	1	2120	1567	55	3		3	C20orf26	20	20056149	Silent	SNP	T	TCGA-S9-A6WL-01A-21D-A33T-08	2474718	20056149	42969371	89	34806											
TPX2	22974	broad.mit.edu	37	20	30345320	30345320	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr20:30345320C>T	ENST00000340513.4	+	3	569	c.41C>T	c.(40-42)tCg>tTg	p.S14L	TPX2_ENST00000300403.6_Missense_Mutation_p.S14L			Q9ULW0	TPX2_HUMAN	TPX2, microtubule-associated	14					activation of protein kinase activity|apoptosis|cell division|cell proliferation|mitosis|regulation of mitotic spindle organization	cytoplasm|microtubule|nucleus|spindle pole	ATP binding|GTP binding|protein kinase binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28			Epithelial(4;0.000771)|Colorectal(19;0.00306)|all cancers(5;0.004)|COAD - Colon adenocarcinoma(19;0.0347)|OV - Ovarian serous cystadenocarcinoma(3;0.0656)			GATGCCCCCTCGGATTTCATC	0.398													11	159					0	0	1	0	0	T	30345320	C	T	30345320	3	4	430	1	0	0	0	0	1	0	0	0	16493	893	31	1	43	1	TPX2	20	30345320	Missense_Mutation	SNP	C	TCGA-S9-A6WL-01A-21D-A33T-08	10289171	30345320	32680200	90	34807											
ADAMTS5	11096	broad.mit.edu	37	21	28296758	28296758	+	Nonsense_Mutation	SNP	C	C	A			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr21:28296758C>A	ENST00000284987.5	-	8	2528	c.2407G>T	c.(2407-2409)Gga>Tga	p.G803*	AP001601.2_ENST00000426771.1_RNA	NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	803	Spacer.				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						ATGACTGTTCCATTGATGTCA	0.433													8	430					0.000157383	0.000163072	1	1	0	A	28296758	C	A	28296758	4	1	430	1	0	0	0	0	0	1	0	0	268	603	21	5	389	5	ADAMTS5	21	28296758	Nonsense_Mutation	SNP	C	TCGA-S9-A6WL-01A-21D-A33T-08		28296758	19833137	91	34808											
KRTAP19-2	337969	broad.mit.edu	37	21	31859629	31859629	+	Silent	SNP	G	G	A			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr21:31859629G>A	ENST00000334055.3	-	1	126	c.39C>T	c.(37-39)tgC>tgT	p.C13C		NM_181608.1	NP_853639.1	Q3LHN2	KR192_HUMAN	keratin associated protein 19-2	13						intermediate filament				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5						AGCCCAGTCTGCAGAAGCTGC	0.562													5	402					0	0	1	0	0	A	31859629	G	A	31859629	2	1	430	1	0	0	0	0	0	0	0	1	8572	1311	46	2		2	KRTAP19-2	21	31859629	Silent	SNP	G	TCGA-S9-A6WL-01A-21D-A33T-08	3562871	31859629	16270266	92	34809											
MX2	4600	broad.mit.edu	37	21	42773954	42773954	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr21:42773954A>G	ENST00000330714.3	+	11	1656	c.1472A>G	c.(1471-1473)gAg>gGg	p.E491G	MX2_ENST00000496774.1_3'UTR	NM_002463.1	NP_002454.1	P20592	MX2_HUMAN	myxovirus (influenza virus) resistance 2 (mouse)	491					response to virus|type I interferon-mediated signaling pathway	cytoplasm|nucleus	GTP binding|GTPase activity			breast(2)|endometrium(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	34		Prostate(19;1.57e-07)|all_epithelial(19;0.0222)				CGAGGCAAGGAGCTTCTGGGA	0.433													7	201					0	0	1	0	0	G	42773954	A	G	42773954	3	3	430	1	0	0	0	0	1	0	0	0	10046	304	11	3	1510	3	MX2	21	42773954	Missense_Mutation	SNP	A	TCGA-S9-A6WL-01A-21D-A33T-08	10914325	42773954	5355941	93	34810											
MAP3K15	389840	broad.mit.edu	37	X	19443789	19443789	+	Missense_Mutation	SNP	C	C	A			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chrX:19443789C>A	ENST00000338883.4	-	9	1298	c.1299G>T	c.(1297-1299)ttG>ttT	p.L433F	MAP3K15_ENST00000469203.2_Missense_Mutation_p.L265F|MAP3K15_ENST00000518578.1_5'UTR|MAP3K15_ENST00000359173.3_5'UTR	NM_001001671.3	NP_001001671.3	Q6ZN16	M3K15_HUMAN	mitogen-activated protein kinase kinase kinase 15	433							ATP binding|MAP kinase kinase kinase activity|metal ion binding			NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	Hepatocellular(33;0.183)					TTCTTCCCAACAAACTGTTCA	0.413													3	28					0.115264	0.118008	1	1	0	A	19443789	C	A	19443789	3	1	430	1	0	0	0	0	1	0	0	0	9299	477	17	5	2726	5	MAP3K15	23	19443789	Missense_Mutation	SNP	C	TCGA-S9-A6WL-01A-21D-A33T-08		19443789	135826771	94	34811											
BCOR	54880	broad.mit.edu	37	X	39932273	39932274	+	Frame_Shift_Ins	INS	-	-	T			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chrX:39932273_39932274insT	ENST00000342274.4	-	4	2687_2688	c.2325_2326insA	c.(2323-2328)ttacatfs	p.H776fs	BCOR_ENST00000378444.4_Frame_Shift_Ins_p.H776fs|BCOR_ENST00000378455.4_Frame_Shift_Ins_p.H776fs|BCOR_ENST00000397354.3_Frame_Shift_Ins_p.H776fs	NM_001123383.1	NP_001116855.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	776					heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						ACATCTGGATGTAACTTGGTGC	0.515			"F, N, S, T"	RARA	"retinoblastoma, AML, APL(translocation)"		oculo-facio-cardio-dental genetic						55	225	---	---	---	---						T	39932274	-	T	39932273	7	5	430	1	0	1	1	0	0	0	0	0	1384	1377	48	0	2989	0	BCOR	23	39932273	Frame_Shift_Ins	INS	-	TCGA-S9-A6WL-01A-21D-A33T-08	20488484	39932273	115338287	95	34812											
ZBTB33	10009	broad.mit.edu	37	X	119388487	119388487	+	Nonsense_Mutation	SNP	C	C	A			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chrX:119388487C>A	ENST00000326624.2	+	2	1445	c.1217C>A	c.(1216-1218)tCa>tAa	p.S406*	ZBTB33_ENST00000557385.1_Nonsense_Mutation_p.S406*	NM_006777.3	NP_006768.1	Q86T24	KAISO_HUMAN	zinc finger and BTB domain containing 33	406					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|nucleolus|plasma membrane	DNA binding|protein binding|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	26						GGCGTAGGATCAAAACATCTA	0.358													6	111					3.59834e-05	3.82046e-05	1	1	0	A	119388487	C	A	119388487	4	1	430	1	0	0	0	0	0	1	0	0	17595	838	29	5	1219	5	ZBTB33	23	119388487	Nonsense_Mutation	SNP	C	TCGA-S9-A6WL-01A-21D-A33T-08	79456214	119388487	35882073	96	34813											
HTR6	3362	broad.mit.edu	37	1	19992358	19992358	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr1:19992358G>A	ENST00000289753.1	+	1	579	c.112G>A	c.(112-114)Gcg>Acg	p.A38T		NM_000871.1	NP_000862.1	P50406	5HT6R_HUMAN	5-hydroxytryptamine (serotonin) receptor 6, G protein-coupled	38					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	histamine receptor activity|protein binding			endometrium(1)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;5.81e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00117)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)	Granisetron(DB00889)|Ondansetron(DB00904)|Sertindole(DB06144)	CGTGGTCATCGCGCTGACGGC	0.731													14	11					0	0	1	0	0	A	19992358	G	A	19992358	3	1	431	1	0	0	0	0	1	0	0	0	7495	1087	38	1	114	1	HTR6	1	19992358	Missense_Mutation	SNP	G	TCGA-S9-A6WM-01A-12D-A33T-08		19992358	229258263	1	34814											
MAP3K6	9064	broad.mit.edu	37	1	27682984	27682984	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr1:27682984C>T	ENST00000374040.3	-	25	3768	c.3508G>A	c.(3508-3510)Gaa>Aaa	p.E1170K	MAP3K6_ENST00000493901.1_Missense_Mutation_p.E1178K|MAP3K6_ENST00000357582.2_Missense_Mutation_p.E1178K			O95382	M3K6_HUMAN	mitogen-activated protein kinase kinase kinase 6	1178					activation of JUN kinase activity		ATP binding|magnesium ion binding|MAP kinase kinase kinase activity			breast(4)|central_nervous_system(2)|lung(3)|ovary(1)	10		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.69e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00132)|KIRC - Kidney renal clear cell carcinoma(1967;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		GCCAGGATTTCGCGCAGCCTG	0.627													25	28					0	0	1	0	0	T	27682984	C	T	27682984	3	4	431	1	0	0	0	0	1	0	0	0	9304	893	31	1	350	1	MAP3K6	1	27682984	Missense_Mutation	SNP	C	TCGA-S9-A6WM-01A-12D-A33T-08	7690626	27682984	221567637	2	34815											
ROR1	4919	broad.mit.edu	37	1	64644134	64644134	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr1:64644134G>A	ENST00000371079.1	+	9	2785	c.2410G>A	c.(2410-2412)Ggt>Agt	p.G804S	ROR1_ENST00000545203.1_Missense_Mutation_p.G255S	NM_005012.3	NP_005003.2	Q01973	ROR1_HUMAN	receptor tyrosine kinase-like orphan receptor 1	804	Pro-rich.				transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			breast(7)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(10)|ovary(6)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	51						CCAGATTGCTGGTTTCATTGG	0.512													10	178					0	0	1	0	0	A	64644134	G	A	64644134	3	1	431	1	0	0	0	0	1	0	0	0	13578	1348	47	2	2452	2	ROR1	1	64644134	Missense_Mutation	SNP	G	TCGA-S9-A6WM-01A-12D-A33T-08	36961150	64644134	184606487	3	34816											
EPHX4	253152	broad.mit.edu	37	1	92528675	92528675	+	Silent	SNP	C	C	T			TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr1:92528675C>T	ENST00000370383.4	+	7	1019	c.921C>T	c.(919-921)gaC>gaT	p.D307D		NM_173567.4	NP_775838.3	Q8IUS5	EPHX4_HUMAN	epoxide hydrolase 4	307						integral to membrane	hydrolase activity			central_nervous_system(1)|large_intestine(3)|lung(8)	12						GAGAGAATGACGCATTCATGG	0.418													21	270					0	0	1	0	0	T	92528675	C	T	92528675	2	4	431	1	0	0	0	0	0	0	0	1	5210	535	19	1		1	EPHX4	1	92528675	Silent	SNP	C	TCGA-S9-A6WM-01A-12D-A33T-08	27884541	92528675	156721946	4	34817											
RYR2	6262	broad.mit.edu	37	1	237947385	237947385	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr1:237947385G>A	ENST00000366574.2	+	90	12690	c.12373G>A	c.(12373-12375)Gtc>Atc	p.V4125I	RYR2_ENST00000609119.1_3'UTR|RYR2_ENST00000542537.1_Missense_Mutation_p.V4109I|RYR2_ENST00000360064.6_Missense_Mutation_p.V4131I	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4125					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.V4123I(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AGCAGAGAGCGTCCTGAATTA	0.512													48	75					0	0	1	0	0	A	237947385	G	A	237947385	3	1	431	1	0	0	0	0	1	0	0	0	13821	1145	40	1	12731	1	RYR2	1	237947385	Missense_Mutation	SNP	G	TCGA-S9-A6WM-01A-12D-A33T-08	145418710	237947385	11303236	5	34818											
IFT172	26160	broad.mit.edu	37	2	27688692	27688692	+	Missense_Mutation	SNP	C	C	G			TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr2:27688692C>G	ENST00000260570.3	-	17	1853	c.1750G>C	c.(1750-1752)Ggt>Cgt	p.G584R		NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN	intraflagellar transport 172 homolog (Chlamydomonas)	584					cilium assembly	cilium	binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					GTAGTCACACCTTCCATCACC	0.517													312	439					0	0	1	0	0	G	27688692	C	G	27688692	3	3	431	1	0	0	0	0	1	0	0	0	7601	681	24	4	3627	4	IFT172	2	27688692	Missense_Mutation	SNP	C	TCGA-S9-A6WM-01A-12D-A33T-08		27688692	215510681	6	34819											
AAK1	22848	broad.mit.edu	37	2	69769714	69769714	+	Missense_Mutation	SNP	A	A	T			TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr2:69769714A>T	ENST00000409085.4	-	5	851	c.475T>A	c.(475-477)Tgt>Agt	p.C159S	AAK1_ENST00000409068.1_Missense_Mutation_p.C159S|AAK1_ENST00000470281.1_5'UTR|AAK1_ENST00000406297.3_Missense_Mutation_p.C159S	NM_014911.3	NP_055726	Q2M2I8	AAK1_HUMAN	AP2 associated kinase 1	159	Protein kinase.					coated pit|mitochondrion|plasma membrane	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)	17						ACAGCTTCACAGGTATCACAA	0.493													4	192					0	0	1	0	0	T	69769714	A	T	69769714	3	4	431	1	0	0	0	0	1	0	0	0	16	188	7	5	2482	5	AAK1	2	69769714	Missense_Mutation	SNP	A	TCGA-S9-A6WM-01A-12D-A33T-08	42081022	69769714	173429659	7	34820											
DYSF	8291	broad.mit.edu	37	2	71709086	71709086	+	Silent	SNP	G	G	A			TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr2:71709086G>A	ENST00000258104.3	+	3	499	c.222G>A	c.(220-222)acG>acA	p.T74T	DYSF_ENST00000394120.2_Silent_p.T75T|DYSF_ENST00000409582.3_Silent_p.T74T|DYSF_ENST00000410041.1_Silent_p.T75T|DYSF_ENST00000409651.1_Silent_p.T75T|DYSF_ENST00000410020.3_Silent_p.T75T|DYSF_ENST00000409762.1_Silent_p.T74T|DYSF_ENST00000413539.2_Silent_p.T74T|DYSF_ENST00000429174.2_Silent_p.T74T|DYSF_ENST00000409744.1_Silent_p.T75T|DYSF_ENST00000409366.1_Silent_p.T75T	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	74	C2 1.					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						ACCATGAGACGATGGGGAGGA	0.552													22	24					0	0	1	0	0	A	71709086	G	A	71709086	2	1	431	1	0	0	0	0	0	0	0	1	4885	1045	37	1		1	DYSF	2	71709086	Silent	SNP	G	TCGA-S9-A6WM-01A-12D-A33T-08	1939372	71709086	171490287	8	34821											
RNF103	7844	broad.mit.edu	37	2	86839366	86839366	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr2:86839366C>T	ENST00000237455.4	-	3	1366	c.398G>A	c.(397-399)gGc>gAc	p.G133D	AC015971.2_ENST00000597638.1_RNA|AC015971.2_ENST00000426549.1_RNA|AC015971.2_ENST00000439077.1_RNA|RNF103-CHMP3_ENST00000604011.1_Intron|CHMP3_ENST00000439940.2_Intron|RNF103_ENST00000477307.1_5'UTR|AC015971.2_ENST00000424788.1_RNA	NM_001198951.1|NM_005667.3	NP_001185880.1|NP_005658.1	O00237	RN103_HUMAN	ring finger protein 103	133					central nervous system development|ER-associated protein catabolic process	endoplasmic reticulum membrane|integral to membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(7)|skin(2)	25						GTGAATTTTGCCCACCAAGGG	0.388													4	205					0	0	1	0	0	T	86839366	C	T	86839366	3	4	431	1	0	0	0	0	1	0	0	0	13475	739	26	2	1667	2	RNF103	2	86839366	Missense_Mutation	SNP	C	TCGA-S9-A6WM-01A-12D-A33T-08	15130280	86839366	156360007	9	34822											
TTN	7273	broad.mit.edu	37	2	179650719	179650719	+	Silent	SNP	G	G	A	rs151025677		TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr2:179650719G>A	ENST00000589042.1	-	14	2450	c.2226C>T	c.(2224-2226)tcC>tcT	p.S742S	TTN_ENST00000591111.1_Silent_p.S742S|TTN_ENST00000359218.5_Silent_p.S696S|TTN_ENST00000360870.5_Silent_p.S742S|TTN_ENST00000342992.6_Silent_p.S742S|TTN_ENST00000460472.2_Silent_p.S696S|TTN_ENST00000342175.6_Silent_p.S696S	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	742							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.S696S(3)|p.S742S(2)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCTTTGCGGCGGAAATGCGTT	0.547													20	152					0	0	1	0	0	A	179650719	G	A	179650719	2	1	431	1	0	0	0	0	0	0	0	1	16797	1103	39	1		1	TTN	2	179650719	Silent	SNP	G	TCGA-S9-A6WM-01A-12D-A33T-08	92811353	179650719	63548654	10	34823											
ATIC	471	broad.mit.edu	37	2	216198162	216198162	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr2:216198162G>A	ENST00000435675.1	+	8	1292	c.901G>A	c.(901-903)Gca>Aca	p.A301T	ATIC_ENST00000236959.9_Missense_Mutation_p.A302T|ATIC_ENST00000540518.1_Missense_Mutation_p.A243T			P31939	PUR9_HUMAN	5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase	302					IMP biosynthetic process|purine base metabolic process	cytosol	IMP cyclohydrolase activity|phosphoribosylaminoimidazolecarboxamide formyltransferase activity|protein homodimerization activity		ATIC/ALK(24)	large_intestine(2)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	8		Renal(323;0.229)		Epithelial(149;2.02e-06)|all cancers(144;0.000316)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.0097)	Tetrahydrofolic acid(DB00116)	CATCTCAGCGGCATATGCAAG	0.403			T	ALK	ALCL								4	176					0	0	1	0	0	A	216198162	G	A	216198162	3	1	431	1	0	0	0	0	1	0	0	0	1104	1203	42	2	938	2	ATIC	2	216198162	Missense_Mutation	SNP	G	TCGA-S9-A6WM-01A-12D-A33T-08	36547443	216198162	27001211	11	34824											
JAGN1	84522	broad.mit.edu	37	3	9934907	9934907	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr3:9934907G>A	ENST00000307768.4	+	2	567	c.398G>A	c.(397-399)gGc>gAc	p.G133D		NM_032492.3	NP_115881.3	Q8N5M9	JAGN1_HUMAN	jagunal homolog 1 (Drosophila)	133						endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(4)|lung(3)|ovary(1)	10	Medulloblastoma(99;0.227)					TACCGCCATGGCAAGGCCTAC	0.527													4	261					0	0	1	0	0	A	9934907	G	A	9934907	3	1	431	1	0	0	0	0	1	0	0	0	7980	1203	42	2	404	2	JAGN1	3	9934907	Missense_Mutation	SNP	G	TCGA-S9-A6WM-01A-12D-A33T-08		9934907	188087523	12	34825											
LRRFIP2	9209	broad.mit.edu	37	3	37107434	37107434	+	Splice_Site	SNP	C	C	A			TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr3:37107434C>A	ENST00000421307.1	-	24	1989		c.e24-1		LRRFIP2_ENST00000354379.4_Splice_Site|LRRFIP2_ENST00000336686.4_Splice_Site|LRRFIP2_ENST00000421276.2_Splice_Site|LRRFIP2_ENST00000440230.1_Splice_Site|LRRFIP2_ENST00000396428.2_Splice_Site	NM_006309.2	NP_006300.1	Q9Y608	LRRF2_HUMAN	leucine rich repeat (in FLII) interacting protein 2						Wnt receptor signaling pathway		LRR domain binding	p.0?(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22						AGCCATGTTTCTGCAGGGGGG	0.493													84	81					2.00703e-41	2.15491e-41	1	1	0	A	37107434	C	A	37107434	5	1	431	1	0	0	0	0	0	0	1	0	9073	927	32	4	623	4	LRRFIP2	3	37107434	Splice_Site	SNP	C	TCGA-S9-A6WM-01A-12D-A33T-08	27172527	37107434	160914996	13	34826											
KLHL6	89857	broad.mit.edu	37	3	183273417	183273417	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr3:183273417C>T	ENST00000341319.3	-	1	60	c.25G>A	c.(25-27)Gcc>Acc	p.A9T		NM_130446.2	NP_569713.2	Q8WZ60	KLHL6_HUMAN	kelch-like family member 6	9								p.A9T(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44	all_cancers(143;9.2e-12)|Ovarian(172;0.0172)		all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22)			ATGGTCCAGGCGCCCCTTTGT	0.587													131	129					0	0	1	0	0	T	183273417	C	T	183273417	3	4	431	1	0	0	0	0	1	0	0	0	8436	768	27	1	1868	1	KLHL6	3	183273417	Missense_Mutation	SNP	C	TCGA-S9-A6WM-01A-12D-A33T-08	146165983	183273417	14749013	14	34827											
IL2	3558	broad.mit.edu	37	4	123372928	123372928	+	Silent	SNP	G	G	A			TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr4:123372928G>A	ENST00000226730.4	-	4	725	c.441C>T	c.(439-441)agC>agT	p.S147S		NM_000586.3	NP_000577.2	P60568	IL2_HUMAN	interleukin 2	147					anti-apoptosis|cell adhesion|cell-cell signaling|immune response|natural killer cell activation|negative regulation of B cell apoptosis|positive regulation of activated T cell proliferation|positive regulation of B cell proliferation|positive regulation of cell growth|positive regulation of interleukin-17 production|positive regulation of tyrosine phosphorylation of Stat5 protein|T cell differentiation	extracellular space	cytokine activity|growth factor activity|interleukin-2 receptor binding|kinase activator activity			endometrium(2)|large_intestine(4)|lung(6)|skin(1)	13				LUSC - Lung squamous cell carcinoma(721;0.185)		TTGAGATGATGCTTTGACAAA	0.303			T	TNFRSF17	intestinal T-cell lymphoma								17	61					0	0	1	0	0	A	123372928	G	A	123372928	2	1	431	1	0	0	0	0	0	0	0	1	7710	1310	46	2		2	IL2	4	123372928	Silent	SNP	G	TCGA-S9-A6WM-01A-12D-A33T-08		123372928	67781348	15	34828											
INTU	27152	broad.mit.edu	37	4	128608864	128608864	+	Missense_Mutation	SNP	T	T	G			TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr4:128608864T>G	ENST00000335251.6	+	8	1394	c.1291T>G	c.(1291-1293)Ttg>Gtg	p.L431V		NM_015693.3	NP_056508.2	Q9ULD6	PDZD6_HUMAN	inturned planar cell polarity protein											breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	43						TGTTCCTCGTTTGGATCATTT	0.443													10	310					0	0	1	0	0	G	128608864	T	G	128608864	3	3	431	1	0	0	0	0	1	0	0	0	7830	1838	64	5	1321	5	INTU	4	128608864	Missense_Mutation	SNP	T	TCGA-S9-A6WM-01A-12D-A33T-08	5235936	128608864	62545412	16	34829											
ADAMTS12	81792	broad.mit.edu	37	5	33576343	33576343	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr5:33576343G>A	ENST00000504830.1	-	19	4123	c.3788C>T	c.(3787-3789)aCg>aTg	p.T1263M	ADAMTS12_ENST00000352040.3_Missense_Mutation_p.T1178M	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1263	Spacer 2.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.T1263M(2)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						ACGGTTTGCCGTCTTTCCTGA	0.502										HNSCC(64;0.19)			161	211					0	0	1	0	0	A	33576343	G	A	33576343	3	1	431	1	0	0	0	0	1	0	0	0	256	1145	40	1	1020	1	ADAMTS12	5	33576343	Missense_Mutation	SNP	G	TCGA-S9-A6WM-01A-12D-A33T-08		33576343	147338917	17	34830											
SEMA6A	57556	broad.mit.edu	37	5	115818156	115818156	+	Nonsense_Mutation	SNP	G	G	A			TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr5:115818156G>A	ENST00000343348.6	-	11	1865	c.1078C>T	c.(1078-1080)Cga>Tga	p.R360*	SEMA6A_ENST00000257414.8_Nonsense_Mutation_p.R360*|CTB-118N6.3_ENST00000514214.1_RNA|CTB-118N6.3_ENST00000508640.1_RNA|SEMA6A_ENST00000510263.1_Nonsense_Mutation_p.R360*|CTB-118N6.3_ENST00000510682.1_RNA	NM_020796.3	NP_065847	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A	360	Sema.				apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis	axon|integral to membrane|plasma membrane	receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)		TTAGGAACTCGTTCATCAGGA	0.423													20	24					0	0	1	0	0	A	115818156	G	A	115818156	4	1	431	1	0	0	0	0	0	1	0	0	14093	1153	40	1	2050	1	SEMA6A	5	115818156	Nonsense_Mutation	SNP	G	TCGA-S9-A6WM-01A-12D-A33T-08	82241813	115818156	65097104	18	34831											
CD14	929	broad.mit.edu	37	5	140012294	140012294	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr5:140012294C>T	ENST00000302014.6	-	2	904	c.275G>A	c.(274-276)cGg>cAg	p.R92Q	CD14_ENST00000401743.2_Missense_Mutation_p.R92Q	NM_000591.3	NP_000582.1	P08571	CD14_HUMAN	CD14 molecule	92					apoptosis|cellular response to lipopolysaccharide|cellular response to lipoteichoic acid|inflammatory response|innate immune response|phagocytosis|positive regulation of tumor necrosis factor production|Toll signaling pathway	anchored to membrane|plasma membrane	lipopolysaccharide binding|lipoteichoic acid binding|opsonin receptor activity|peptidoglycan receptor activity			endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTGAGCCGCCGCACGCGGAG	0.647													18	71					0	0	1	0	0	T	140012294	C	T	140012294	3	4	431	1	0	0	0	0	1	0	0	0	2986	652	23	1	856	1	CD14	5	140012294	Missense_Mutation	SNP	C	TCGA-S9-A6WM-01A-12D-A33T-08	24194138	140012294	40902966	19	34832											
PCDHA10	56139	broad.mit.edu	37	5	140237891	140237891	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr5:140237891G>A	ENST00000307360.5	+	1	2258	c.2258G>A	c.(2257-2259)cGg>cAg	p.R753Q	PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron	NM_018901.2	NP_061724.1														NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGCAGAGGCGGCAGAGGGTG	0.672													22	29					0	0	1	0	0	A	140237891	G	A	140237891	3	1	431	1	0	0	0	0	1	0	0	0	11567	1116	39	1	2260	1	PCDHA10	5	140237891	Missense_Mutation	SNP	G	TCGA-S9-A6WM-01A-12D-A33T-08	225597	140237891	40677369	20	34833											
HTR4	3360	broad.mit.edu	37	5	147830775	147830775	+	Silent	SNP	G	G	A			TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr5:147830775G>A	ENST00000354217.2	-	7	1300	c.1137C>T	c.(1135-1137)gaC>gaT	p.D379D	HTR4_ENST00000314512.6_3'UTR|HTR4_ENST00000521735.1_3'UTR|HTR4_ENST00000521530.1_Silent_p.D379D			Q13639	5HT4R_HUMAN	5-hydroxytryptamine (serotonin) receptor 4, G protein-coupled	0					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cell proliferation	endosome|integral to plasma membrane|membrane fraction	serotonin receptor activity			endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Cisapride(DB00604)|Rizatriptan(DB00953)|Tegaserod(DB01079)|Zolmitriptan(DB00315)	GGGATTCTGGGTCATTGTGTA	0.473													82	136					0	0	1	0	0	A	147830775	G	A	147830775	2	1	431	1	0	0	0	0	0	0	0	1	7493	1252	44	2		2	HTR4	5	147830775	Silent	SNP	G	TCGA-S9-A6WM-01A-12D-A33T-08	7592884	147830775	33084485	21	34834											
CDHR2	54825	broad.mit.edu	37	5	175995743	175995743	+	Silent	SNP	C	C	T			TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr5:175995743C>T	ENST00000510636.1	+	4	463	c.189C>T	c.(187-189)agC>agT	p.S63S	CDHR2_ENST00000506348.1_Silent_p.S63S|CDHR2_ENST00000261944.5_Silent_p.S63S	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	63	Cadherin 1.				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						ATGGGATGAGCGGCCCCAATG	0.612													4	142					0	0	1	0	0	T	175995743	C	T	175995743	2	4	431	1	0	0	0	0	0	0	0	1	3141	767	27	1		1	CDHR2	5	175995743	Silent	SNP	C	TCGA-S9-A6WM-01A-12D-A33T-08	28164968	175995743	4919517	22	34835											
SLC34A1	6569	broad.mit.edu	37	5	176824890	176824890	+	Missense_Mutation	SNP	C	C	T	rs148272921		TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr5:176824890C>T	ENST00000324417.5	+	13	1614	c.1523C>T	c.(1522-1524)aCg>aTg	p.T508M	SLC34A1_ENST00000513614.1_3'UTR	NM_003052.4	NP_003043.3	Q06495	NPT2A_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 1	508					phosphate ion homeostasis|response to cadmium ion|response to lead ion|response to mercury ion|sodium ion transport	brush border membrane|integral to plasma membrane	protein binding|sodium-dependent phosphate transmembrane transporter activity|symporter activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGGAAACGCACGGCCAAGTAC	0.597													62	94					0	0	1	0	0	T	176824890	C	T	176824890	3	4	431	1	0	0	0	0	1	0	0	0	14622	536	19	1	1660	1	SLC34A1	5	176824890	Missense_Mutation	SNP	C	TCGA-S9-A6WM-01A-12D-A33T-08	829147	176824890	4090370	23	34836											
MAML1	9794	broad.mit.edu	37	5	179196082	179196082	+	Missense_Mutation	SNP	G	G	A	rs144664410	by1000genomes	TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr5:179196082G>A	ENST00000292599.3	+	3	2226	c.1963G>A	c.(1963-1965)Gcg>Acg	p.A655T	MAML1_ENST00000503050.1_3'UTR	NM_014757.4	NP_055572.1	Q92585	MAML1_HUMAN	mastermind-like 1 (Drosophila)	655					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	peptide antigen binding|protein kinase binding|transcription coactivator activity			central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	36	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCACCTTCTCGCGGAACAGGT	0.512													21	114					0	0	1	0	0	A	179196082	G	A	179196082	3	1	431	1	0	0	0	0	1	0	0	0	9255	1087	38	1	1973	1	MAML1	5	179196082	Missense_Mutation	SNP	G	TCGA-S9-A6WM-01A-12D-A33T-08	2371192	179196082	1719178	24	34837											
IER3	8870	broad.mit.edu	37	6	30712191	30712191	+	Silent	SNP	G	G	A			TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr6:30712191G>A	ENST00000376377.2	-	1	134	c.105C>T	c.(103-105)atC>atT	p.I35I	IER3_ENST00000259874.5_Silent_p.I35I			P46695	IEX1_HUMAN	immediate early response 3	35					anatomical structure morphogenesis|anti-apoptosis|apoptosis	integral to membrane	protein binding			NS(1)	1						CGAAGGTGAAGATCTCAGGAC	0.736													4	13					0	0	1	0	0	A	30712191	G	A	30712191	2	1	431	1	0	0	0	0	0	0	0	1	7550	932	33	2		2	IER3	6	30712191	Silent	SNP	G	TCGA-S9-A6WM-01A-12D-A33T-08		30712191	140402876	25	34838											
TFAP2D	83741	broad.mit.edu	37	6	50740480	50740480	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr6:50740480C>T	ENST00000008391.3	+	8	1490	c.1262C>T	c.(1261-1263)gCg>gTg	p.A421V		NM_172238.3	NP_758438.2	Q7Z6R9	AP2D_HUMAN	transcription factor AP-2 delta (activating enhancer binding protein 2 delta)	421							DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1)	60	Lung NSC(77;0.0334)					GGCGGAGCGGCGGATTCTGGC	0.498													43	49					0	0	1	0	0	T	50740480	C	T	50740480	3	4	431	1	0	0	0	0	1	0	0	0	15850	768	27	1	1292	1	TFAP2D	6	50740480	Missense_Mutation	SNP	C	TCGA-S9-A6WM-01A-12D-A33T-08	20028289	50740480	120374587	26	34839											
GPR6	2830	broad.mit.edu	37	6	110300977	110300977	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr6:110300977C>T	ENST00000414000.2	+	3	946	c.707C>T	c.(706-708)cCg>cTg	p.P236L	GPR6_ENST00000275169.3_Missense_Mutation_p.P221L			P46095	GPR6_HUMAN	G protein-coupled receptor 6	221						integral to plasma membrane				breast(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)	18		all_cancers(87;1.64e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;2.83e-05)|all_lung(197;0.00016)|Lung NSC(302;0.000318)|Colorectal(196;0.0488)		BRCA - Breast invasive adenocarcinoma(108;8.01e-05)|Epithelial(106;8.76e-05)|all cancers(137;0.000197)|OV - Ovarian serous cystadenocarcinoma(136;0.0307)		GTGGTGCGCCCGCTGGCGCGC	0.697													13	16					0	0	1	0	0	T	110300977	C	T	110300977	3	4	431	1	0	0	0	0	1	0	0	0	6741	652	23	1	664	1	GPR6	6	110300977	Missense_Mutation	SNP	C	TCGA-S9-A6WM-01A-12D-A33T-08	59560497	110300977	60814090	27	34840											
LAMA2	3908	broad.mit.edu	37	6	129649474	129649474	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr6:129649474C>T	ENST00000421865.2	+	29	4277	c.4228C>T	c.(4228-4230)Cct>Tct	p.P1410S		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1410	Laminin EGF-like 14; second part.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		TGGCCGCACCCCTGGACCAAC	0.507													14	237					0	0	1	0	0	T	129649474	C	T	129649474	3	4	431	1	0	0	0	0	1	0	0	0	8645	623	22	2	4342	2	LAMA2	6	129649474	Missense_Mutation	SNP	C	TCGA-S9-A6WM-01A-12D-A33T-08	19348497	129649474	41465593	28	34841											
TIAM2	26230	broad.mit.edu	37	6	155451307	155451307	+	Missense_Mutation	SNP	G	G	A	rs146734733		TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr6:155451307G>A	ENST00000461783.3	+	6	2223	c.950G>A	c.(949-951)cGc>cAc	p.R317H	TIAM2_ENST00000529824.2_Missense_Mutation_p.R317H|TIAM2_ENST00000367174.2_5'UTR|TIAM2_ENST00000456144.1_Missense_Mutation_p.R317H|TIAM2_ENST00000360366.4_Missense_Mutation_p.R317H|TIAM2_ENST00000318981.5_Missense_Mutation_p.R317H			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	317					apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		TCAGGTATCCGCCTTTCTGAT	0.572													69	50					0	0	1	0	0	A	155451307	G	A	155451307	3	1	431	1	0	0	0	0	1	0	0	0	15951	1087	38	1	952	1	TIAM2	6	155451307	Missense_Mutation	SNP	G	TCGA-S9-A6WM-01A-12D-A33T-08	25801833	155451307	15663760	29	34842											
ADCYAP1R1	117	broad.mit.edu	37	7	31124942	31124942	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr7:31124942G>A	ENST00000304166.4	+	9	843	c.554G>A	c.(553-555)cGc>cAc	p.R185H	ADCYAP1R1_ENST00000396211.2_Missense_Mutation_p.R185H|ADCYAP1R1_ENST00000409489.1_Missense_Mutation_p.R185H|ADCYAP1R1_ENST00000409363.1_Missense_Mutation_p.R164H	NM_001118.4|NM_001199635.1|NM_001199636.1	NP_001109.2|NP_001186564.1|NP_001186565.1	P41586	PACR_HUMAN	adenylate cyclase activating polypeptide 1 (pituitary) receptor type I	185					activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|spermatogenesis	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity			endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1)	35						CACTGCACACGCAACTTCATC	0.542													5	407					0	0	1	0	0	A	31124942	G	A	31124942	3	1	431	1	0	0	0	0	1	0	0	0	302	1087	38	1	584	1	ADCYAP1R1	7	31124942	Missense_Mutation	SNP	G	TCGA-S9-A6WM-01A-12D-A33T-08		31124942	128013721	30	34843											
VPS41	27072	broad.mit.edu	37	7	38902218	38902218	+	Frame_Shift_Del	DEL	A	A	-			TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr7:38902218delA	ENST00000310301.4	-	4	227	c.173delT	c.(172-174)ttgfs	p.L58fs	VPS41_ENST00000395969.2_Frame_Shift_Del_p.L58fs	NM_014396.3	NP_055211.2	P49754	VPS41_HUMAN	vacuolar protein sorting 41 homolog (S. cerevisiae)	58					Golgi vesicle transport|intracellular protein transport|vesicle-mediated transport	cytosol|Golgi-associated vesicle|HOPS complex|membrane fraction	zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	44						GCCCAATGCCAAAAACTGTAA	0.308													8	325	---	---	---	---						-	38902218	A	-	38902218	7	5	431	1	0	1	0	1	0	0	0	0	17270	131	5	0	2495	0	VPS41	7	38902218	Frame_Shift_Del	DEL	A	TCGA-S9-A6WM-01A-12D-A33T-08	7777276	38902218	120236445	31	34844											
PCLO	27445	broad.mit.edu	37	7	82474624	82474624	+	Missense_Mutation	SNP	G	G	C			TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr7:82474624G>C	ENST00000333891.9	-	13	14346	c.14009C>G	c.(14008-14010)tCc>tGc	p.S4670C	PCLO_ENST00000423517.2_Missense_Mutation_p.S4670C|PCLO_ENST00000426442.2_5'UTR	NM_033026.5	NP_149015.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein						cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CACTGAGGGGGACCCTGGTTG	0.502													32	72					0	0	1	0	0	C	82474624	G	C	82474624	3	2	431	1	0	0	0	0	1	0	0	0	11630	1174	41	5	1488	5	PCLO	7	82474624	Missense_Mutation	SNP	G	TCGA-S9-A6WM-01A-12D-A33T-08	43572406	82474624	76664039	32	34845											
GIGYF1	64599	broad.mit.edu	37	7	100284293	100284293	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr7:100284293G>A	ENST00000275732.5	-	7	1882	c.673C>T	c.(673-675)Cgc>Tgc	p.R225C	GIGYF1_ENST00000471340.2_Intron	NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN	GRB10 interacting GYF protein 1	225										central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					GAGCGCCAGCGGTCGCCGTCT	0.687													56	212					0	0	1	0	0	A	100284293	G	A	100284293	3	1	431	1	0	0	0	0	1	0	0	0	6419	1116	39	1	2506	1	GIGYF1	7	100284293	Missense_Mutation	SNP	G	TCGA-S9-A6WM-01A-12D-A33T-08	17809669	100284293	58854370	33	34846											
MCPH1	79648	broad.mit.edu	37	8	6302235	6302235	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr8:6302235G>A	ENST00000344683.5	+	8	1068	c.992G>A	c.(991-993)cGt>cAt	p.R331H	MCPH1_ENST00000522905.1_Missense_Mutation_p.R283H|MCPH1_ENST00000519480.1_Missense_Mutation_p.R331H	NM_024596.3	NP_078872	Q8NEM0	MCPH1_HUMAN	microcephalin 1	331						microtubule organizing center			AGPAT5/MCPH1(2)	central_nervous_system(1)|large_intestine(4)|skin(1)	6		Hepatocellular(245;0.0663)		Colorectal(4;0.0505)		GAGAAGTATCGTTTGTCTCCT	0.418													42	23					0	0	1	0	0	A	6302235	G	A	6302235	3	1	431	1	0	0	0	0	1	0	0	0	9448	1145	40	1	1022	1	MCPH1	8	6302235	Missense_Mutation	SNP	G	TCGA-S9-A6WM-01A-12D-A33T-08		6302235	140061787	34	34847											
LZTS1	11178	broad.mit.edu	37	8	20110916	20110916	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr8:20110916G>A	ENST00000381569.1	-	3	883	c.526C>T	c.(526-528)Cgg>Tgg	p.R176W	LZTS1_ENST00000522290.1_Missense_Mutation_p.R176W|LZTS1_ENST00000265801.6_Missense_Mutation_p.R176W			Q9Y250	LZTS1_HUMAN	leucine zipper, putative tumor suppressor 1	176					cell cycle|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	cell junction|dendritic spine|Golgi apparatus|nucleolus|nucleoplasm|postsynaptic density|postsynaptic membrane	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(2)|skin(1)|urinary_tract(1)	29				Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207)		ATGGAGTTCCGGCCGGAGTCT	0.672													4	67					0	0	1	0	0	A	20110916	G	A	20110916	3	1	431	1	0	0	0	0	1	0	0	0	9184	1115	39	1	1272	1	LZTS1	8	20110916	Missense_Mutation	SNP	G	TCGA-S9-A6WM-01A-12D-A33T-08	13808681	20110916	126253106	35	34848											
NEFM	4741	broad.mit.edu	37	8	24771352	24771352	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr8:24771352C>T	ENST00000221166.5	+	1	828	c.46C>T	c.(46-48)Cgg>Tgg	p.R16W	NEFM_ENST00000521540.1_3'UTR|NEFM_ENST00000518131.1_Missense_Mutation_p.R16W|GS1-72M22.1_ENST00000607058.1_RNA|NEFM_ENST00000437366.2_Missense_Mutation_p.R16W			P07197	NFM_HUMAN	neurofilament, medium polypeptide	16	Head.					neurofilament	protein binding|structural constituent of cytoskeleton			breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1)	36		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		CGCCTACCGGCGGGTAACCGA	0.701													13	14					0	0	1	0	0	T	24771352	C	T	24771352	3	4	431	1	0	0	0	0	1	0	0	0	10363	759	27	1	48	1	NEFM	8	24771352	Missense_Mutation	SNP	C	TCGA-S9-A6WM-01A-12D-A33T-08	4660436	24771352	121592670	36	34849											
KIF13B	23303	broad.mit.edu	37	8	28956707	28956707	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr8:28956707T>C	ENST00000524189.1	-	36	4305	c.4267A>G	c.(4267-4269)Ata>Gta	p.I1423V	KIF13B_ENST00000404075.3_5'UTR	NM_015254.3	NP_056069.2	Q9NQT8	KI13B_HUMAN	kinesin family member 13B	1423					microtubule-based movement|protein targeting|signal transduction|T cell activation	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein kinase binding			endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		GCAGGAGCTATTCCTCTGGAA	0.428													137	80					0	0	1	0	0	C	28956707	T	C	28956707	3	2	431	1	0	0	0	0	1	0	0	0	8317	1493	52	3	1233	3	KIF13B	8	28956707	Missense_Mutation	SNP	T	TCGA-S9-A6WM-01A-12D-A33T-08	4185355	28956707	117407315	37	34850											
RFX3	5991	broad.mit.edu	37	9	3257179	3257179	+	Silent	SNP	G	G	A			TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr9:3257179G>A	ENST00000382004.3	-	15	1937	c.1626C>T	c.(1624-1626)tgC>tgT	p.C542C	RFX3_ENST00000302303.1_Silent_p.C542C|RFX3_ENST00000358730.2_Silent_p.C542C	NM_001282116.1|NM_134428.1	NP_001269045.1|NP_602304.1	P48380	RFX3_HUMAN	regulatory factor X, 3 (influences HLA class II expression)	542					cell maturation|ciliary cell motility|cilium assembly|cilium movement involved in determination of left/right asymmetry|endocrine pancreas development|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type B pancreatic cell development|regulation of insulin secretion	nuclear chromatin	protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(11)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(50;0.00124)|Lung(2;0.0337)		CATCACACTGGCACACCCAGG	0.483													4	126					0	0	1	0	0	A	3257179	G	A	3257179	2	1	431	1	0	0	0	0	0	0	0	1	13316	1195	42	2		2	RFX3	9	3257179	Silent	SNP	G	TCGA-S9-A6WM-01A-12D-A33T-08		3257179	137956252	38	34851											
CD72	971	broad.mit.edu	37	9	35615999	35615999	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr9:35615999T>C	ENST00000396757.1	-	6	793	c.629A>G	c.(628-630)gAg>gGg	p.E210G	CD72_ENST00000490239.1_5'UTR|CD72_ENST00000259633.4_Missense_Mutation_p.E210G			P21854	CD72_HUMAN	CD72 molecule	210					axon guidance|cell adhesion	integral to plasma membrane	receptor binding|sugar binding|transmembrane receptor activity			large_intestine(5)|liver(1)|lung(6)	12			Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CAGCTTCTGCTCCAAGGCCCT	0.582													120	137					0	0	1	0	0	C	35615999	T	C	35615999	3	2	431	1	0	0	0	0	1	0	0	0	3056	1551	54	3	466	3	CD72	9	35615999	Missense_Mutation	SNP	T	TCGA-S9-A6WM-01A-12D-A33T-08	32358820	35615999	105597432	39	34852											
TRPM3	80036	broad.mit.edu	37	9	73399070	73399070	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr9:73399070G>A	ENST00000377110.3	-	7	1342	c.1099C>T	c.(1099-1101)Cgg>Tgg	p.R367W	TRPM3_ENST00000396280.5_Missense_Mutation_p.R214W|TRPM3_ENST00000377101.1_Missense_Mutation_p.R214W|TRPM3_ENST00000408909.2_Missense_Mutation_p.R214W|TRPM3_ENST00000358082.3_Missense_Mutation_p.R239W|TRPM3_ENST00000361823.5_Missense_Mutation_p.R214W|TRPM3_ENST00000377111.2_Missense_Mutation_p.R367W|TRPM3_ENST00000357533.2_Missense_Mutation_p.R369W|TRPM3_ENST00000396285.1_Missense_Mutation_p.R214W|TRPM3_ENST00000423814.3_Missense_Mutation_p.R394W|TRPM3_ENST00000396283.1_Missense_Mutation_p.R239W|TRPM3_ENST00000396292.4_Missense_Mutation_p.R239W|TRPM3_ENST00000360823.2_Missense_Mutation_p.R239W|TRPM3_ENST00000377106.1_Missense_Mutation_p.R239W|TRPM3_ENST00000377105.1_Missense_Mutation_p.R214W			Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3							integral to membrane	calcium channel activity	p.R239W(1)		NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						TCCGATGCCCGTCCACTCCCA	0.532													69	83					0	0	1	0	0	A	73399070	G	A	73399070	3	1	431	1	0	0	0	0	1	0	0	0	16648	1144	40	1	4144	1	TRPM3	9	73399070	Missense_Mutation	SNP	G	TCGA-S9-A6WM-01A-12D-A33T-08	37783071	73399070	67814361	40	34853											
TLE4	7091	broad.mit.edu	37	9	82337427	82337427	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr9:82337427A>G	ENST00000376520.4	+	19	2972	c.2144A>G	c.(2143-2145)aAt>aGt	p.N715S	TLE4_ENST00000376534.4_Missense_Mutation_p.N320S|TLE4_ENST00000376552.2_Missense_Mutation_p.N683S|TLE4_ENST00000265284.6_Missense_Mutation_p.N658S|TLE4_ENST00000376544.3_Missense_Mutation_p.N614S|TLE4_ENST00000376537.4_Missense_Mutation_p.N715S	NM_001282748.1	NP_001269677.1	O60756	BCE1_HUMAN	transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila)	0										breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						GAGAACAGCAATGTGGAAGTT	0.483													28	65					0	0	1	0	0	G	82337427	A	G	82337427	3	3	431	1	0	0	0	0	1	0	0	0	16001	101	4	3	2118	3	TLE4	9	82337427	Missense_Mutation	SNP	A	TCGA-S9-A6WM-01A-12D-A33T-08	8938357	82337427	58876004	41	34854											
LPPR1	54886	broad.mit.edu	37	9	104048420	104048420	+	Missense_Mutation	SNP	A	A	T			TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr9:104048420A>T	ENST00000374874.3	+	4	726	c.287A>T	c.(286-288)aAa>aTa	p.K96I	LPPR1_ENST00000395056.2_Missense_Mutation_p.K96I	NM_207299.1	NP_997182.1	Q8TBJ4	LPPR1_HUMAN		96						integral to membrane	catalytic activity										TATTTCATAAAATCAACAAGA	0.388													52	149					0	0	1	0	0	T	104048420	A	T	104048420	3	4	431	1	0	0	0	0	1	0	0	0	8969	14	1	5	297	5	LPPR1	9	104048420	Missense_Mutation	SNP	A	TCGA-S9-A6WM-01A-12D-A33T-08	21710993	104048420	37165011	42	34855											
ZMYND19	116225	broad.mit.edu	37	9	140477531	140477531	+	Silent	SNP	C	C	G			TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr9:140477531C>G	ENST00000298585.2	-	5	670	c.444G>C	c.(442-444)cgG>cgC	p.R148R		NM_138462.2	NP_612471.1	Q96E35	ZMY19_HUMAN	zinc finger, MYND-type containing 19	148						Golgi apparatus|plasma membrane	zinc ion binding			endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	13	all_cancers(76;0.106)			OV - Ovarian serous cystadenocarcinoma(145;0.000275)|Epithelial(140;0.00047)		CATTATAATACCGGGTCACAT	0.478													202	298					0	0	1	0	0	G	140477531	C	G	140477531	2	3	431	1	0	0	0	0	0	0	0	1	17768	494	18	5		5	ZMYND19	9	140477531	Silent	SNP	C	TCGA-S9-A6WM-01A-12D-A33T-08	36429111	140477531	735900	43	34856											
GPRIN2	9721	broad.mit.edu	37	10	47000104	47000104	+	Missense_Mutation	SNP	G	G	C			TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr10:47000104G>C	ENST00000374314.4	+	1	2179	c.1224G>C	c.(1222-1224)caG>caC	p.Q408H	GPRIN2_ENST00000374317.1_Missense_Mutation_p.Q408H			O60269	GRIN2_HUMAN	G protein regulated inducer of neurite outgrowth 2	408										breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						TGGCCATCCAGAAGCACCTGG	0.672													4	39					0	0	1	0	0	C	47000104	G	C	47000104	3	2	431	1	0	0	0	0	1	0	0	0	6771	933	33	4	1226	4	GPRIN2	10	47000104	Missense_Mutation	SNP	G	TCGA-S9-A6WM-01A-12D-A33T-08		47000104	88534643	44	34857											
MUC5B	727897	broad.mit.edu	37	11	1248558	1248558	+	Silent	SNP	C	C	T			TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr11:1248558C>T	ENST00000447027.1	+	6	655	c.597C>T	c.(595-597)taC>taT	p.Y199Y	MUC5B_ENST00000529681.1_Silent_p.Y199Y			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	199	VWFD 1.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		ATCCCAAATACGCCAACCAGA	0.637													9	19					0	0	1	0	0	T	1248558	C	T	1248558	2	4	431	1	0	0	0	0	0	0	0	1	10027	547	19	1		1	MUC5B	11	1248558	Silent	SNP	C	TCGA-S9-A6WM-01A-12D-A33T-08		1248558	133757958	45	34858											
MRGPRX3	117195	broad.mit.edu	37	11	18159394	18159394	+	Silent	SNP	C	C	T			TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr11:18159394C>T	ENST00000396275.2	+	3	1006	c.645C>T	c.(643-645)taC>taT	p.Y215Y		NM_054031.3	NP_473372.3	Q96LB0	MRGX3_HUMAN	MAS-related GPR, member X3	215						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.Y215Y(1)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						CCAGGCTGTACGTGACCATCC	0.562													39	30					0	0	1	0	0	T	18159394	C	T	18159394	2	4	431	1	0	0	0	0	0	0	0	1	9817	547	19	1		1	MRGPRX3	11	18159394	Silent	SNP	C	TCGA-S9-A6WM-01A-12D-A33T-08	16910836	18159394	116847122	46	34859											
SLC43A3	29015	broad.mit.edu	37	11	57182153	57182153	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr11:57182153G>A	ENST00000395123.2	-	11	1299	c.995C>T	c.(994-996)gCc>gTc	p.A332V	SLC43A3_ENST00000529554.1_Missense_Mutation_p.A332V|SLC43A3_ENST00000395124.1_Missense_Mutation_p.A332V|SLC43A3_ENST00000352187.1_Missense_Mutation_p.A332V|SLC43A3_ENST00000533524.1_Missense_Mutation_p.A345V	NM_001278201.1|NM_014096.2	NP_001265130.1|NP_054815.2	Q8NBI5	S43A3_HUMAN	solute carrier family 43, member 3	332					transmembrane transport	integral to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	27						ATTCCAGGGGGCACACAGCAC	0.542													5	284					0	0	1	0	0	A	57182153	G	A	57182153	3	1	431	1	0	0	0	0	1	0	0	0	14689	1203	42	2	496	2	SLC43A3	11	57182153	Missense_Mutation	SNP	G	TCGA-S9-A6WM-01A-12D-A33T-08	39022759	57182153	77824363	47	34860											
ADAMTS15	170689	broad.mit.edu	37	11	130341194	130341194	+	Missense_Mutation	SNP	C	C	G			TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr11:130341194C>G	ENST00000299164.2	+	7	1994	c.1994C>G	c.(1993-1995)tCc>tGc	p.S665C		NM_139055.2	NP_620686.1	Q8TE58	ATS15_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 15	665	Cys-rich.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1)	36	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)		AACCTGGGCTCCAAGAAGAGA	0.577													36	33					0	0	1	0	0	G	130341194	C	G	130341194	3	3	431	1	0	0	0	0	1	0	0	0	259	855	30	5	2020	5	ADAMTS15	11	130341194	Missense_Mutation	SNP	C	TCGA-S9-A6WM-01A-12D-A33T-08	73159041	130341194	4665322	48	34861											
KRT86	3892	broad.mit.edu	37	12	52695806	52695806	+	Missense_Mutation	SNP	T	T	A			TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr12:52695806T>A	ENST00000293525.5	+	1	158	c.106T>A	c.(106-108)Tcc>Acc	p.S36T	KRT86_ENST00000423955.2_Missense_Mutation_p.S36T|KRT86_ENST00000544024.1_Missense_Mutation_p.S36T	NM_002284.3	NP_002275.1	O43790	KRT86_HUMAN	keratin 86	36	Head.				cytoskeleton organization	keratin filament	structural molecule activity			breast(1)|cervix(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(357;0.189)		CCGTGGCATCTCCTGCTACCG	0.726													39	47					0	0	1	0	0	A	52695806	T	A	52695806	3	1	431	1	0	0	0	0	1	0	0	0	8543	1551	54	5	108	5	KRT86	12	52695806	Missense_Mutation	SNP	T	TCGA-S9-A6WM-01A-12D-A33T-08		52695806	81156089	49	34862											
RASSF9	9182	broad.mit.edu	37	12	86199652	86199652	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr12:86199652G>A	ENST00000361228.3	-	2	504	c.136C>T	c.(136-138)Cgc>Tgc	p.R46C		NM_005447.3	NP_005438.2	O75901	RASF9_HUMAN	Ras association (RalGDS/AF-6) domain family (N-terminal) member 9	46	Ras-associating.				endosome transport|protein targeting|signal transduction	cytosol|endosome|trans-Golgi network transport vesicle membrane	protein binding|transporter activity			endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GAGGTGGTGCGTTTAGTCAGC	0.453													94	103					0	0	1	0	0	A	86199652	G	A	86199652	3	1	431	1	0	0	0	0	1	0	0	0	13145	1145	40	1	1175	1	RASSF9	12	86199652	Missense_Mutation	SNP	G	TCGA-S9-A6WM-01A-12D-A33T-08	33503846	86199652	47652243	50	34863											
RIMBP2	23504	broad.mit.edu	37	12	130963555	130963555	+	Nonsense_Mutation	SNP	G	G	A	rs138967663		TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr12:130963555G>A	ENST00000261655.4	-	3	167	c.4C>T	c.(4-6)Cga>Tga	p.R2*	RIMBP2_ENST00000536002.1_5'UTR|RIMBP2_ENST00000535703.1_5'UTR	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	2						cell junction|synapse				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		GCCGCCTCTCGCATATGCTGT	0.617													39	39					0	0	1	0	0	A	130963555	G	A	130963555	4	1	431	1	0	0	0	0	0	1	0	0	13413	1095	38	1	3222	1	RIMBP2	12	130963555	Nonsense_Mutation	SNP	G	TCGA-S9-A6WM-01A-12D-A33T-08	44763903	130963555	2888340	51	34864											
ATP12A	479	broad.mit.edu	37	13	25265131	25265131	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr13:25265131G>A	ENST00000218548.6	+	8	1162	c.829G>A	c.(829-831)Ggc>Agc	p.G277S	ATP12A_ENST00000381946.3_Missense_Mutation_p.G271S	NM_001185085.1|NM_001676.5	NP_001172014.1|NP_001667.4	P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	271					ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding			breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)	CACTGTCACCGGCATGGTTAT	0.562													4	252					0	0	1	0	0	A	25265131	G	A	25265131	3	1	431	1	0	0	0	0	1	0	0	0	1121	1116	39	1	859	1	ATP12A	13	25265131	Missense_Mutation	SNP	G	TCGA-S9-A6WM-01A-12D-A33T-08		25265131	89904747	52	34865											
AHNAK2	113146	broad.mit.edu	37	14	105417287	105417287	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr14:105417287G>A	ENST00000333244.5	-	7	4620	c.4501C>T	c.(4501-4503)Ccg>Tcg	p.P1501S	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1501						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CCGAACGACGGCATCTTGAAC	0.602													5	612					0	0	1	0	0	A	105417287	G	A	105417287	3	1	431	1	0	0	0	0	1	0	0	0	412	1203	42	2	12890	2	AHNAK2	14	105417287	Missense_Mutation	SNP	G	TCGA-S9-A6WM-01A-12D-A33T-08		105417287	1932253	53	34866											
TYRO3	7301	broad.mit.edu	37	15	41865285	41865285	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr15:41865285G>A	ENST00000263798.3	+	16	2185	c.1961G>A	c.(1960-1962)cGa>cAa	p.R654Q	TYRO3_ENST00000559066.1_Missense_Mutation_p.R609Q	NM_006293.3	NP_006284.2	Q06418	TYRO3_HUMAN	TYRO3 protein tyrosine kinase	654	Protein kinase.					integral to plasma membrane	ATP binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(26)|ovary(3)|prostate(1)	43		all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117)		TTCATCCACCGAGACCTGGCT	0.582													38	54					0	0	1	0	0	A	41865285	G	A	41865285	3	1	431	1	0	0	0	0	1	0	0	0	16876	1058	37	1	2023	1	TYRO3	15	41865285	Missense_Mutation	SNP	G	TCGA-S9-A6WM-01A-12D-A33T-08		41865285	60666107	54	34867											
SYT17	51760	broad.mit.edu	37	16	19195264	19195264	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr16:19195264G>A	ENST00000562034.1	+	3	4361	c.563G>A	c.(562-564)cGc>cAc	p.R188H	SYT17_ENST00000568115.1_Missense_Mutation_p.R188H|SYT17_ENST00000562711.2_Missense_Mutation_p.R245H|SYT17_ENST00000355377.2_Missense_Mutation_p.R249H			Q9BSW7	SYT17_HUMAN	synaptotagmin XVII	249	C2 1.					membrane|synaptic vesicle	transporter activity			NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	17						GGGGTCAAACGCAAGACCCAG	0.592													52	159					0	0	1	0	0	A	19195264	G	A	19195264	3	1	431	1	0	0	0	0	1	0	0	0	15530	1087	38	1	764	1	SYT17	16	19195264	Missense_Mutation	SNP	G	TCGA-S9-A6WM-01A-12D-A33T-08		19195264	71159489	55	34868											
ATXN2L	11273	broad.mit.edu	37	16	28842379	28842379	+	Missense_Mutation	SNP	C	C	A			TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr16:28842379C>A	ENST00000336783.4	+	10	1474	c.1307C>A	c.(1306-1308)cCa>cAa	p.P436Q	ATXN2L_ENST00000395547.2_Missense_Mutation_p.P436Q|RP11-24N18.1_ENST00000563565.1_RNA|ATXN2L_ENST00000564304.1_Missense_Mutation_p.P436Q|ATXN2L_ENST00000325215.6_Missense_Mutation_p.P436Q|ATXN2L_ENST00000382686.4_Missense_Mutation_p.P436Q|ATXN2L_ENST00000340394.8_Missense_Mutation_p.P436Q|ATXN2L_ENST00000570200.1_Missense_Mutation_p.P436Q	NM_007245.3	NP_009176.2	Q8WWM7	ATX2L_HUMAN	ataxin 2-like	436						membrane				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						ACTTCTGTTCCACCTCCTCCT	0.473													3	36					1	1	1	1	0	A	28842379	C	A	28842379	3	1	431	1	0	0	0	0	1	0	0	0	1210	594	21	5	1345	5	ATXN2L	16	28842379	Missense_Mutation	SNP	C	TCGA-S9-A6WM-01A-12D-A33T-08	9647115	28842379	61512374	56	34869											
SH2B1	25970	broad.mit.edu	37	16	28883967	28883967	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr16:28883967C>T	ENST00000337120.5	+	7	5129	c.1838C>T	c.(1837-1839)tCg>tTg	p.S613L	SH2B1_ENST00000545570.1_Missense_Mutation_p.S303L|SH2B1_ENST00000395532.4_Missense_Mutation_p.S613L|SH2B1_ENST00000563674.1_Intron|SH2B1_ENST00000359285.5_Missense_Mutation_p.S613L|SH2B1_ENST00000538342.1_Missense_Mutation_p.S277L|SH2B1_ENST00000322610.8_Missense_Mutation_p.S613L	NM_001145812.1|NM_015503.2	NP_001139284.1|NP_056318.2	Q9NRF2	SH2B1_HUMAN	SH2B adaptor protein 1	613	SH2.				blood coagulation|intracellular signal transduction	cytosol|membrane|nucleus	signal transducer activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						CCTTTGGAGTCGGGAGGCTCC	0.612													61	59					0	0	1	0	0	T	28883967	C	T	28883967	3	4	431	1	0	0	0	0	1	0	0	0	14281	893	31	1	1864	1	SH2B1	16	28883967	Missense_Mutation	SNP	C	TCGA-S9-A6WM-01A-12D-A33T-08	41588	28883967	61470786	57	34870											
FTO	79068	broad.mit.edu	37	16	53859939	53859939	+	Missense_Mutation	SNP	G	G	A	rs139577103		TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr16:53859939G>A	ENST00000471389.1	+	3	509	c.287G>A	c.(286-288)cGc>cAc	p.R96H	FTO_ENST00000394647.3_Intron	NM_001080432.2	NP_001073901.1	Q9C0B1	FTO_HUMAN	fat mass and obesity associated	96	Fe2OG dioxygenase domain.				DNA dealkylation involved in DNA repair|oxidative single-stranded DNA demethylation|oxidative single-stranded RNA demethylation|RNA repair	nucleus	DNA-N1-methyladenine dioxygenase activity|ferrous iron binding|oxidative DNA demethylase activity|oxidative RNA demethylase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			endometrium(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						CCGGTATCTCGCATCCTCATT	0.498													4	148					0	0	1	0	0	A	53859939	G	A	53859939	3	1	431	1	0	0	0	0	1	0	0	0	6121	1087	38	1	297	1	FTO	16	53859939	Missense_Mutation	SNP	G	TCGA-S9-A6WM-01A-12D-A33T-08	24975972	53859939	36494814	58	34871											
SPG7	6687	broad.mit.edu	37	16	89592756	89592756	+	Missense_Mutation	SNP	G	G	A	rs147673636		TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr16:89592756G>A	ENST00000268704.2	+	5	653	c.638G>A	c.(637-639)cGa>cAa	p.R213Q	SPG7_ENST00000341316.2_Missense_Mutation_p.R213Q	NM_003119.2	NP_003110.1	Q9UQ90	SPG7_HUMAN	spastic paraplegia 7 (pure and complicated autosomal recessive)	213					cell death|nervous system development|protein catabolic process|proteolysis	integral to membrane|mitochondrial membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|urinary_tract(1)	20		all_hematologic(23;0.00824)|Colorectal(91;0.102)		all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015)		TTGATGTACCGAATGCAGGTT	0.532													4	244					0	0	1	0	0	A	89592756	G	A	89592756	3	1	431	1	0	0	0	0	1	0	0	0	15100	1058	37	1	656	1	SPG7	16	89592756	Missense_Mutation	SNP	G	TCGA-S9-A6WM-01A-12D-A33T-08	35732817	89592756	761997	59	34872											
EIF5A	1984	broad.mit.edu	37	17	7214424	7214424	+	Nonsense_Mutation	SNP	A	A	T			TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr17:7214424A>T	ENST00000336458.8	+	3	654	c.253A>T	c.(253-255)Aaa>Taa	p.K85*	EIF5A_ENST00000416016.2_Nonsense_Mutation_p.K85*|EIF5A_ENST00000571955.1_Nonsense_Mutation_p.K85*|EIF5A_ENST00000572815.1_Nonsense_Mutation_p.K85*|EIF5A_ENST00000419711.2_Nonsense_Mutation_p.K85*|EIF5A_ENST00000576930.1_Nonsense_Mutation_p.K85*|EIF5A_ENST00000336452.7_Nonsense_Mutation_p.K115*|EIF5A_ENST00000573542.1_Nonsense_Mutation_p.K85*	NM_001970.4	NP_001961.1	P63241	IF5A1_HUMAN	eukaryotic translation initiation factor 5A	85	DOHH-binding.			K -> R (in Ref. 3; AAD14095).	induction of apoptosis|mRNA export from nucleus|peptidyl-lysine modification to hypusine|positive regulation of cell proliferation|positive regulation of translational elongation|positive regulation of translational termination|post-translational protein modification|protein export from nucleus|translational frameshifting|transmembrane transport	annulate lamellae|cytosol|endoplasmic reticulum membrane|nuclear pore	protein N-terminus binding|ribosome binding|translation elongation factor activity|U6 snRNA binding			endometrium(2)|kidney(1)|large_intestine(2)|urinary_tract(1)	6						CCCCAACATCAAAAGGAATGA	0.468													4	222					0	0	1	0	0	T	7214424	A	T	7214424	4	4	431	1	0	0	0	0	0	1	0	0	5069	131	5	5	353	5	EIF5A	17	7214424	Nonsense_Mutation	SNP	A	TCGA-S9-A6WM-01A-12D-A33T-08		7214424	73980786	60	34873											
SREBF1	6720	broad.mit.edu	37	17	17718610	17718610	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr17:17718610C>T	ENST00000355815.4	-	14	2676	c.2507G>A	c.(2506-2508)cGg>cAg	p.R836Q	SREBF1_ENST00000261646.5_Missense_Mutation_p.R806Q|SREBF1_ENST00000338854.5_Missense_Mutation_p.R806Q|SREBF1_ENST00000395757.1_Missense_Mutation_p.R552Q	NM_001005291.2	NP_001005291.1	P36956	SRBP1_HUMAN	sterol regulatory element binding transcription factor 1	806					cellular response to starvation|cholesterol metabolic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter	endoplasmic reticulum|endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleus	protein binding|sequence-specific DNA binding transcription factor activity|sterol response element binding			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	14						GAGATGTTCCCGGAATAGCTG	0.617													56	75					0	0	1	0	0	T	17718610	C	T	17718610	3	4	431	1	0	0	0	0	1	0	0	0	15197	652	23	1	1054	1	SREBF1	17	17718610	Missense_Mutation	SNP	C	TCGA-S9-A6WM-01A-12D-A33T-08	10504186	17718610	63476600	61	34874											
KRT25	147183	broad.mit.edu	37	17	38907516	38907516	+	Silent	SNP	G	G	A			TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr17:38907516G>A	ENST00000312150.4	-	4	792	c.732C>T	c.(730-732)ccC>ccT	p.P244P		NM_181534.3	NP_853512.1	Q7Z3Z0	K1C25_HUMAN	keratin 25	244	Linker 12.|Rod.					cytoplasm|intermediate filament	structural molecule activity			endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4)	16		Breast(137;0.00526)				GGTCCACCCCGGGGGCTGCGT	0.577													49	79					0	0	1	0	0	A	38907516	G	A	38907516	2	1	431	1	0	0	0	0	0	0	0	1	8505	1103	39	1		1	KRT25	17	38907516	Silent	SNP	G	TCGA-S9-A6WM-01A-12D-A33T-08	21188906	38907516	42287694	62	34875											
GH2	2689	broad.mit.edu	37	17	61957710	61957710	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr17:61957710G>A	ENST00000423893.2	-	5	686	c.625C>T	c.(625-627)Cgc>Tgc	p.R209C	GH2_ENST00000456543.2_Silent_p.A207A|GH2_ENST00000449787.2_Missense_Mutation_p.R194C|GH2_ENST00000332800.7_3'UTR			P01242	SOM2_HUMAN	growth hormone 2	209						extracellular region	hormone activity			breast(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	24						TCCACAGAGCGGCACTGCACG	0.607													24	58					0	0	1	0	0	A	61957710	G	A	61957710	3	1	431	1	0	0	0	0	1	0	0	0	6410	1116	39	1	120	1	GH2	17	61957710	Missense_Mutation	SNP	G	TCGA-S9-A6WM-01A-12D-A33T-08	23050194	61957710	19237500	63	34876											
KIAA0195	9772	broad.mit.edu	37	17	73482037	73482039	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr17:73482037_73482039delTGC	ENST00000314256.7	+	4	624_626	c.230_232delTGC	c.(229-234)gtgctg>gtg	p.L81del	KIAA0195_ENST00000375248.5_In_Frame_Del_p.L91del|KIAA0195_ENST00000579208.1_Intron	NM_014738.4	NP_055553.3	Q12767	K0195_HUMAN	KIAA0195	81					ATP biosynthetic process|cation transport	integral to membrane	ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism			breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1)	42	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			CTACTGGCCGTGCTGCTGCTGCT	0.675													7	282	---	---	---	---						-	73482039	TGC	-	73482037	7	5	431	1	0	1	0	1	0	0	0	0	8202	1696	59	0	240	0	KIAA0195	17	73482037	In_Frame_Del	DEL	TGC	TCGA-S9-A6WM-01A-12D-A33T-08	11524327	73482037	7713173	64	34877											
SAP30BP	29115	broad.mit.edu	37	17	73702109	73702109	+	Frame_Shift_Del	DEL	A	A	-			TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr17:73702109delA	ENST00000584667.1	+	10	939	c.682delA	c.(682-684)aaafs	p.K229fs	SAP30BP_ENST00000355423.3_Frame_Shift_Del_p.K213fs	NM_013260.6	NP_037392.1	Q9UHR5	S30BP_HUMAN	SAP30 binding protein	229	Thr-rich.				apoptosis|induction of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)	17	all_cancers(13;6.42e-08)		all cancers(21;4.25e-07)|Epithelial(20;9.57e-07)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			GACGGGCACCAAAAAAGGcac	0.572													7	545	---	---	---	---						-	73702109	A	-	73702109	7	5	431	1	0	1	0	1	0	0	0	0	13887	131	5	0	720	0	SAP30BP	17	73702109	Frame_Shift_Del	DEL	A	TCGA-S9-A6WM-01A-12D-A33T-08	220072	73702109	7493101	65	34878											
ST6GALNAC1	55808	broad.mit.edu	37	17	74622800	74622800	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr17:74622800G>A	ENST00000156626.7	-	5	1443	c.1244C>T	c.(1243-1245)gCc>gTc	p.A415V		NM_018414.3	NP_060884.1	Q9NSC7	SIA7A_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 1	415					protein glycosylation	integral to Golgi membrane	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	22						CAGGGAGAAGGCGGTAAAGCC	0.537													268	334					0	0	1	0	0	A	74622800	G	A	74622800	3	1	431	1	0	0	0	0	1	0	0	0	15279	1203	42	2	578	2	ST6GALNAC1	17	74622800	Missense_Mutation	SNP	G	TCGA-S9-A6WM-01A-12D-A33T-08	920691	74622800	6572410	66	34879											
MYOM1	8736	broad.mit.edu	37	18	3168873	3168873	+	Frame_Shift_Del	DEL	A	A	-			TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr18:3168873delA	ENST00000400569.3	-	9	1614	c.1281delT	c.(1279-1281)cgtfs	p.R427fs	MYOM1_ENST00000356443.4_Frame_Shift_Del_p.R427fs|MYOM1_ENST00000261606.7_Frame_Shift_Del_p.R427fs			P52179	MYOM1_HUMAN	myomesin 1	427	Ig-like C2-type 2.					striated muscle myosin thick filament	structural constituent of muscle			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						TGATGACAACACGACAGCCTA	0.428													34	53	---	---	---	---						-	3168873	A	-	3168873	7	5	431	1	0	1	0	1	0	0	0	0	10139	146	6	0	3896	0	MYOM1	18	3168873	Frame_Shift_Del	DEL	A	TCGA-S9-A6WM-01A-12D-A33T-08		3168873	74908375	67	34880											
DSC3	1825	broad.mit.edu	37	18	28576872	28576872	+	Missense_Mutation	SNP	C	C	T	rs138126171		TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr18:28576872C>T	ENST00000434452.1	-	15	2532	c.2378G>A	c.(2377-2379)cGg>cAg	p.R793Q	DSC3_ENST00000360428.4_Missense_Mutation_p.R793Q	NM_024423.2	NP_077741.2	Q14574	DSC3_HUMAN	desmocollin 3	793					homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			CCCAGCCCCCCGGCAGGATTC	0.507													37	59					0	0	1	0	0	T	28576872	C	T	28576872	3	4	431	1	0	0	0	0	1	0	0	0	4793	652	23	1	351	1	DSC3	18	28576872	Missense_Mutation	SNP	C	TCGA-S9-A6WM-01A-12D-A33T-08	25407999	28576872	49500376	68	34881											
SERPINB8	5271	broad.mit.edu	37	18	61649048	61649048	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr18:61649048G>A	ENST00000397985.2	+	4	656	c.400G>A	c.(400-402)Gac>Aac	p.D134N	SERPINB8_ENST00000542677.1_5'UTR|SERPINB8_ENST00000397988.3_Missense_Mutation_p.D134N|SERPINB8_ENST00000353706.2_Missense_Mutation_p.D134N	NM_001276490.1	NP_001263419.1	P50452	SPB8_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 8	134					regulation of proteolysis	cytosol	protein binding|serine-type endopeptidase inhibitor activity			breast(2)|kidney(1)|large_intestine(4)|lung(9)|skin(1)	17		Esophageal squamous(42;0.129)				GCATATAAATGACTGGGTGGC	0.438													50	189					0	0	1	0	0	A	61649048	G	A	61649048	3	1	431	1	0	0	0	0	1	0	0	0	14161	1290	45	2	410	2	SERPINB8	18	61649048	Missense_Mutation	SNP	G	TCGA-S9-A6WM-01A-12D-A33T-08	33072176	61649048	16428200	69	34882											
REXO1	57455	broad.mit.edu	37	19	1827422	1827422	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr19:1827422G>A	ENST00000170168.4	-	2	1460	c.1366C>T	c.(1366-1368)Cgg>Tgg	p.R456W		NM_020695.3	NP_065746.3	Q8N1G1	REXO1_HUMAN	REX1, RNA exonuclease 1 homolog (S. cerevisiae)	456						nucleus	exonuclease activity|nucleic acid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	16		Ovarian(11;1.78e-06)|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)		CTCGGCCGCCGCGCTGGCCGG	0.736													3	20					0	0	1	0	0	A	1827422	G	A	1827422	3	1	431	1	0	0	0	0	1	0	0	0	13293	1086	38	1	2359	1	REXO1	19	1827422	Missense_Mutation	SNP	G	TCGA-S9-A6WM-01A-12D-A33T-08		1827422	57301561	70	34883											
EMR2	30817	broad.mit.edu	37	19	14865794	14865794	+	Missense_Mutation	SNP	G	G	A	rs146763976		TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr19:14865794G>A	ENST00000315576.3	-	14	2013	c.1562C>T	c.(1561-1563)gCc>gTc	p.A521V	EMR2_ENST00000353876.1_Missense_Mutation_p.A428V|EMR2_ENST00000594076.1_Missense_Mutation_p.A428V|EMR2_ENST00000601345.1_Missense_Mutation_p.A510V|EMR2_ENST00000346057.1_Missense_Mutation_p.A472V|EMR2_ENST00000392964.3_Silent_p.C185C|EMR2_ENST00000596991.2_Missense_Mutation_p.A510V|EMR2_ENST00000595839.1_Missense_Mutation_p.A379V|EMR2_ENST00000392967.2_Missense_Mutation_p.A510V|EMR2_ENST00000353005.1_Missense_Mutation_p.A379V|EMR2_ENST00000392965.3_Intron|EMR2_ENST00000594294.1_Missense_Mutation_p.A472V	NM_013447.3	NP_038475.2	Q9UHX3	EMR2_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 2	521	GPS.				cell adhesion|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	p.A521V(1)		breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	48						CATGAGGACGGCAAAGCTGCT	0.572													4	189					0	0	1	0	0	A	14865794	G	A	14865794	3	1	431	1	0	0	0	0	1	0	0	0	5133	1203	42	2	941	2	EMR2	19	14865794	Missense_Mutation	SNP	G	TCGA-S9-A6WM-01A-12D-A33T-08	13038372	14865794	44263189	71	34884											
LPAR2	9170	broad.mit.edu	37	19	19737465	19737465	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr19:19737465C>T	ENST00000542587.1	-	5	1531	c.629G>A	c.(628-630)cGc>cAc	p.R210H	LPAR2_ENST00000586703.1_Missense_Mutation_p.R210H|LPAR2_ENST00000407877.3_Missense_Mutation_p.R210H			Q9HBW0	LPAR2_HUMAN	lysophosphatidic acid receptor 2	210					activation of phospholipase C activity|elevation of cytosolic calcium ion concentration	cell surface|integral to plasma membrane	LIM domain binding|lipid binding			breast(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	10						GAAGAAAATGCGGGTGTACAC	0.622													24	120					0	0	1	0	0	T	19737465	C	T	19737465	3	4	431	1	0	0	0	0	1	0	0	0	8950	768	27	1	434	1	LPAR2	19	19737465	Missense_Mutation	SNP	C	TCGA-S9-A6WM-01A-12D-A33T-08	4871671	19737465	39391518	72	34885											
CD22	933	broad.mit.edu	37	19	35835785	35835785	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr19:35835785G>A	ENST00000085219.5	+	10	2155	c.2089G>A	c.(2089-2091)Gcc>Acc	p.A697T	CD22_ENST00000419549.2_Missense_Mutation_p.A525T|CD22_ENST00000270311.6_Missense_Mutation_p.A577T|CD22_ENST00000594250.1_Missense_Mutation_p.A520T|CD22_ENST00000536635.2_Missense_Mutation_p.A609T|CD22_ENST00000544992.2_Missense_Mutation_p.A697T|CD22_ENST00000341773.6_Missense_Mutation_p.A520T	NM_001771.3	NP_001762.2	P20273	CD22_HUMAN	CD22 molecule	697					cell adhesion		protein binding|sugar binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		OspA lipoprotein(DB00045)	GTCCTGCCTCGCCATCCTCAT	0.627													132	200					0	0	1	0	0	A	35835785	G	A	35835785	3	1	431	1	0	0	0	0	1	0	0	0	3007	1087	38	1	2123	1	CD22	19	35835785	Missense_Mutation	SNP	G	TCGA-S9-A6WM-01A-12D-A33T-08	16098320	35835785	23293198	73	34886											
FBL	2091	broad.mit.edu	37	19	40331067	40331067	+	Silent	SNP	C	C	T			TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr19:40331067C>T	ENST00000221801.3	-	3	383	c.270G>A	c.(268-270)ccG>ccA	p.P90P		NM_001436.3	NP_001427.2	P22087	FBRL_HUMAN	fibrillarin	90					rRNA processing|tRNA processing	box C/D snoRNP complex|Cajal body	methyltransferase activity|protein binding|RNA binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)	9	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)	Renal(1328;0.000518)|Hepatocellular(1079;0.0893)	Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)	GBM - Glioblastoma multiforme(1328;0.000826)|STAD - Stomach adenocarcinoma(1328;0.138)		CATGCCGATGCGGCTCCACCA	0.622													5	535					0	0	1	0	0	T	40331067	C	T	40331067	2	4	431	1	0	0	0	0	0	0	0	1	5729	755	27	1		1	FBL	19	40331067	Silent	SNP	C	TCGA-S9-A6WM-01A-12D-A33T-08	4495282	40331067	18797916	74	34887											
SHANK1	50944	broad.mit.edu	37	19	51192618	51192618	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr19:51192618G>A	ENST00000391813.1	-	1	43	c.44C>T	c.(43-45)cCg>cTg	p.P15L	SHANK1_ENST00000359082.3_Intron|SHANK1_ENST00000293441.1_Intron|SHANK1_ENST00000391814.1_Intron			Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	1193					cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		TCCCCCACCCGGCAACCCAGA	0.572													10	31					0	0	1	0	0	A	51192618	G	A	51192618	3	1	431	1	0	0	0	0	1	0	0	0	14319	1131	39	1		1	SHANK1	19	51192618	Missense_Mutation	SNP	G	TCGA-S9-A6WM-01A-12D-A33T-08	10861551	51192618	7936365	75	34888											
ZNF347	84671	broad.mit.edu	37	19	53644511	53644511	+	Missense_Mutation	SNP	G	G	C			TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr19:53644511G>C	ENST00000452676.2	-	5	1999	c.1573C>G	c.(1573-1575)Caa>Gaa	p.Q525E	ZNF347_ENST00000334197.7_Missense_Mutation_p.Q524E|ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000601469.2_Missense_Mutation_p.Q525E	NM_001172674.1	NP_001166145.1	Q96SE7	ZN347_HUMAN	zinc finger protein 347	524					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		TGTGAATTTTGAGTGAAGACC	0.408													11	428					0	0	1	0	0	C	53644511	G	C	53644511	3	2	431	1	0	0	0	0	1	0	0	0	17918	1299	45	5	953	5	ZNF347	19	53644511	Missense_Mutation	SNP	G	TCGA-S9-A6WM-01A-12D-A33T-08	2451893	53644511	5484472	76	34889											
BTBD3	22903	broad.mit.edu	37	20	11899098	11899100	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr20:11899098_11899100delAAG	ENST00000405977.1	+	2	800_802	c.175_177delAAG	c.(175-177)aagdel	p.K61del	RP4-742J24.2_ENST00000439529.1_RNA|BTBD3_ENST00000378226.2_In_Frame_Del_p.K61del|BTBD3_ENST00000254977.3_5'UTR|BTBD3_ENST00000399006.2_5'UTR	NM_001282550.1|NM_001282552.1|NM_001282554.1	NP_001269479.1|NP_001269481.1|NP_001269483.1	Q9Y2F9	BTBD3_HUMAN	BTB (POZ) domain containing 3	61										breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(18)|ovary(3)|skin(2)	34						GAAGACTAAAAAGAAGAAGATGG	0.453													129	300	---	---	---	---						-	11899100	AAG	-	11899098	7	5	431	1	0	1	0	1	0	0	0	0	1547	15	1	0	177	0	BTBD3	20	11899098	In_Frame_Del	DEL	AAG	TCGA-S9-A6WM-01A-12D-A33T-08		11899098	51126422	77	34890											
SPIN4	139886	broad.mit.edu	37	X	62570231	62570231	+	Silent	SNP	G	G	A			TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chrX:62570231G>A	ENST00000374884.2	-	1	992	c.414C>T	c.(412-414)taC>taT	p.Y138Y	SPIN4_ENST00000335144.3_Silent_p.Y156Y|SPIN4-AS1_ENST00000451979.1_RNA			Q56A73	SPIN4_HUMAN	spindlin family, member 4	156					gamete generation					endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	11						GATCTTTCTCGTAGGTGATGT	0.448													6	234					0	0	1	0	0	A	62570231	G	A	62570231	2	1	431	1	0	0	0	0	0	0	0	1	15112	1140	40	1		1	SPIN4	23	62570231	Silent	SNP	G	TCGA-S9-A6WM-01A-12D-A33T-08		62570231	92700329	78	34891											
P2RY4	5030	broad.mit.edu	37	X	69478764	69478764	+	Silent	SNP	C	C	T			TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chrX:69478764C>T	ENST00000374519.2	-	1	890	c.711G>A	c.(709-711)tcG>tcA	p.S237S		NM_002565.3	NP_002556.1	P51582	P2RY4_HUMAN	pyrimidinergic receptor P2Y, G-protein coupled, 4	237					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			cervix(2)|endometrium(2)|large_intestine(8)|lung(6)	18						GGCGAGAAGACGACTGTGCAG	0.577													44	27					0	0	1	0	0	T	69478764	C	T	69478764	2	4	431	1	0	0	0	0	0	0	0	1	11400	523	19	1		1	P2RY4	23	69478764	Silent	SNP	C	TCGA-S9-A6WM-01A-12D-A33T-08	6908533	69478764	85791796	79	34892											
MAGEE1	57692	broad.mit.edu	37	X	75648839	75648839	+	Silent	SNP	G	G	A			TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chrX:75648839G>A	ENST00000361470.2	+	1	794	c.516G>A	c.(514-516)acG>acA	p.T172T		NM_020932.2	NP_065983.1	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	172	Pro-rich.					dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						GTGAGGGAACGAGCACCTCCG	0.682													40	47					0	0	1	0	0	A	75648839	G	A	75648839	2	1	431	1	0	0	0	0	0	0	0	1	9235	1045	37	1		1	MAGEE1	23	75648839	Silent	SNP	G	TCGA-S9-A6WM-01A-12D-A33T-08	6170075	75648839	79621721	80	34893											
ARMCX5	64860	broad.mit.edu	37	X	101858274	101858274	+	Missense_Mutation	SNP	C	C	A			TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chrX:101858274C>A	ENST00000604957.1	+	1	3827	c.1205C>A	c.(1204-1206)tCt>tAt	p.S402Y	ARMCX5_ENST00000372742.1_Missense_Mutation_p.S402Y|ARMCX5_ENST00000541409.1_Missense_Mutation_p.S402Y|RP4-769N13.6_ENST00000476910.2_RNA|ARMCX5_ENST00000537008.1_Missense_Mutation_p.S402Y|ARMCX5_ENST00000246174.2_Missense_Mutation_p.S402Y|ARMCX5_ENST00000536530.1_Missense_Mutation_p.S402Y|RP4-769N13.7_ENST00000602441.1_RNA	NM_001168478.1	NP_001161950.1	Q6P1M9	ARMX5_HUMAN	armadillo repeat containing, X-linked 5	402							binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	22						GGCATAATCTCTTGCCCCTTG	0.423													15	195					1.37285e-15	1.45866e-15	1	1	0	A	101858274	C	A	101858274	3	1	431	1	0	0	0	0	1	0	0	0	961	913	32	4	1207	4	ARMCX5	23	101858274	Missense_Mutation	SNP	C	TCGA-S9-A6WM-01A-12D-A33T-08	26209435	101858274	53412286	81	34894											
RNF128	79589	broad.mit.edu	37	X	105937249	105937249	+	Missense_Mutation	SNP	G	G	T			TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chrX:105937249G>T	ENST00000324342.3	+	1	182	c.17G>T	c.(16-18)aGg>aTg	p.R6M		NM_024539.3	NP_078815.3	Q8TEB7	RN128_HUMAN	ring finger protein 128, E3 ubiquitin protein ligase	0						endomembrane system|integral to membrane|perinuclear region of cytoplasm	zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)	11						CAGGAGAATAGGTCCAGTTTT	0.348													15	135					2.48551e-13	2.61362e-13	1	1	0	T	105937249	G	T	105937249	3	4	431	1	0	0	0	0	1	0	0	0	13488	1000	35	4	19	4	RNF128	23	105937249	Missense_Mutation	SNP	G	TCGA-S9-A6WM-01A-12D-A33T-08	4078975	105937249	49333311	82	34895											
CUL4B	8450	broad.mit.edu	37	X	119677613	119677613	+	Nonsense_Mutation	SNP	T	T	A			TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chrX:119677613T>A	ENST00000371322.5	-	8	1286	c.1225A>T	c.(1225-1227)Aga>Tga	p.R409*	CUL4B_ENST00000404115.3_Nonsense_Mutation_p.R427*|CUL4B_ENST00000336592.6_Nonsense_Mutation_p.R414*	NM_001079872.1	NP_001073341.1	Q13620	CUL4B_HUMAN	cullin 4B	427					cell cycle|DNA repair|ubiquitin-dependent protein catabolic process	Cul4B-RING ubiquitin ligase complex|nucleus	protein binding|ubiquitin protein ligase binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						GTAATAAGTCTGTCTGCTTCT	0.353													82	102					0	0	1	0	0	A	119677613	T	A	119677613	4	1	431	1	0	0	0	0	0	1	0	0	4081	1588	55	5	1514	5	CUL4B	23	119677613	Nonsense_Mutation	SNP	T	TCGA-S9-A6WM-01A-12D-A33T-08	13740364	119677613	35592947	83	34896											
SAGE1	55511	broad.mit.edu	37	X	134989501	134989501	+	Nonsense_Mutation	SNP	G	G	T			TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chrX:134989501G>T	ENST00000535938.1	+	9	1074	c.907G>T	c.(907-909)Gag>Tag	p.E303*	SAGE1_ENST00000370709.3_Nonsense_Mutation_p.E303*|SAGE1_ENST00000537770.1_Intron|SAGE1_ENST00000324447.3_Nonsense_Mutation_p.E303*	NM_018666.2	NP_061136.2	Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	303										breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55	Acute lymphoblastic leukemia(192;0.000127)					TGTCTGTGAAGAGAAGATGGA	0.428													5	272					0.0215528	0.0222059	1	1	0	T	134989501	G	T	134989501	4	4	431	1	0	0	0	0	0	1	0	0	13861	943	33	4	937	4	SAGE1	23	134989501	Nonsense_Mutation	SNP	G	TCGA-S9-A6WM-01A-12D-A33T-08	15311888	134989501	20281059	84	34897											
SLITRK4	139065	broad.mit.edu	37	X	142717979	142717979	+	Missense_Mutation	SNP	C	C	T	rs142699085	byFrequency	TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chrX:142717979C>T	ENST00000381779.4	-	2	1171	c.946G>A	c.(946-948)Gtt>Att	p.V316I	SLITRK4_ENST00000356928.1_Missense_Mutation_p.V316I|SLITRK4_ENST00000338017.4_Missense_Mutation_p.V316I	NM_001184749.2|NM_001184750.1|NM_173078.4	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	316						integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					TTGCCTGCAACGATTCCAGAG	0.473													112	197					0	0	1	0	0	T	142717979	C	T	142717979	3	4	431	1	0	0	0	0	1	0	0	0	14799	536	19	1	1571	1	SLITRK4	23	142717979	Missense_Mutation	SNP	C	TCGA-S9-A6WM-01A-12D-A33T-08	7728478	142717979	12552581	85	34898											
ASTN1	460	broad.mit.edu	37	1	176915088	176915088	+	Silent	SNP	G	G	A	rs138093855		TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chr1:176915088G>A	ENST00000367654.3	-	13	2458	c.2247C>T	c.(2245-2247)gcC>gcT	p.A749A	ASTN1_ENST00000361833.2_Silent_p.A741A|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000424564.2_Silent_p.A741A|ASTN1_ENST00000367657.3_Silent_p.A741A	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1						cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						GCACCTGTCCGGCAGCCACTT	0.463													6	286					0	0	1	0	0	A	176915088	G	A	176915088	2	1	432	1	0	0	0	0	0	0	0	1	1063	1103	39	1		1	ASTN1	1	176915088	Silent	SNP	G	TCGA-S9-A6WN-01A-12D-A33T-08		176915088	72335533	1	34899											
ZNF281	23528	broad.mit.edu	37	1	200376612	200376614	+	In_Frame_Del	DEL	AAC	AAC	-			TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chr1:200376612_200376614delAAC	ENST00000294740.3	-	2	2344_2346	c.2220_2222delGTT	c.(2218-2223)ttgttt>ttt	p.L740del	ZNF281_ENST00000367352.3_In_Frame_Del_p.L704del|ZNF281_ENST00000367353.1_In_Frame_Del_p.L740del	NM_001281293.1|NM_001281294.1|NM_012482.4	NP_001268222.1|NP_001268223.1|NP_036614.1	Q9Y2X9	ZN281_HUMAN	zinc finger protein 281						negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			breast(4)|endometrium(3)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	27						CTGAGATCCAAACAACATCCCAA	0.443													8	166	---	---	---	---						-	200376614	AAC	-	200376612	7	5	432	1	0	1	0	1	0	0	0	0	17876	14	1	0	469	0	ZNF281	1	200376612	In_Frame_Del	DEL	AAC	TCGA-S9-A6WN-01A-12D-A33T-08	23461524	200376612	48874009	2	34900											
CR2	1380	broad.mit.edu	37	1	207639979	207639979	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chr1:207639979G>A	ENST00000367057.3	+	2	356	c.167G>A	c.(166-168)cGc>cAc	p.R56H	CR2_ENST00000367059.3_Missense_Mutation_p.R56H|CR2_ENST00000458541.2_Missense_Mutation_p.R56H|CR2_ENST00000367058.3_Missense_Mutation_p.R56H	NM_001006658.2	NP_001006659.1	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	56	Sushi 1.				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						GGTACCTTCCGCCTCATTGGA	0.408													63	212					0	0	1	0	0	A	207639979	G	A	207639979	3	1	432	1	0	0	0	0	1	0	0	0	3865	1087	38	1	173	1	CR2	1	207639979	Missense_Mutation	SNP	G	TCGA-S9-A6WN-01A-12D-A33T-08	7263367	207639979	41610642	3	34901											
CDC42BPA	8476	broad.mit.edu	37	1	227218139	227218141	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chr1:227218139_227218141delCTT	ENST00000366769.3	-	28	4992_4994	c.3701_3703delAAG	c.(3700-3705)gaaggg>ggg	p.E1234del	CDC42BPA_ENST00000535525.1_In_Frame_Del_p.E1214del|CDC42BPA_ENST00000366766.2_In_Frame_Del_p.E1269del|CDC42BPA_ENST00000366765.3_In_Frame_Del_p.E1247del|CDC42BPA_ENST00000334218.5_In_Frame_Del_p.E1234del|CDC42BPA_ENST00000366767.3_In_Frame_Del_p.E1153del|CDC42BPA_ENST00000366764.2_In_Frame_Del_p.E1206del	NM_003607.3	NP_003598.2	Q5VT25	MRCKA_HUMAN	CDC42 binding protein kinase alpha (DMPK-like)	1247	CNH.				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity	p.E1234D(1)|p.E1153D(1)|p.E1269D(1)		NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77		all_cancers(173;0.156)|Prostate(94;0.0792)				ACAAATAACCCTTCTTCGTTTCC	0.276													52	230	---	---	---	---						-	227218141	CTT	-	227218139	7	5	432	1	0	1	0	1	0	0	0	0	3094	681	24	0	1492	0	CDC42BPA	1	227218139	In_Frame_Del	DEL	CTT	TCGA-S9-A6WN-01A-12D-A33T-08	19578160	227218139	22032482	4	34902											
C2orf42	54980	broad.mit.edu	37	2	70408448	70408450	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chr2:70408448_70408450delAGA	ENST00000264434.2	-	3	1047_1049	c.668_670delTCT	c.(667-672)ttctgc>tgc	p.F223del	C2orf42_ENST00000420306.1_In_Frame_Del_p.F223del	NM_017880.1	NP_060350.1	Q9NWW7	CB042_HUMAN	chromosome 2 open reading frame 42	223										endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1)	12						TGACAGGAGCAGAAGAAGCGGCG	0.488													45	237	---	---	---	---						-	70408450	AGA	-	70408448	7	5	432	1	0	1	0	1	0	0	0	0	2180	188	7	0	1086	0	C2orf42	2	70408448	In_Frame_Del	DEL	AGA	TCGA-S9-A6WN-01A-12D-A33T-08		70408448	172790925	5	34903											
SCN3A	6328	broad.mit.edu	37	2	165953004	165953004	+	Missense_Mutation	SNP	A	A	C			TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chr2:165953004A>C	ENST00000360093.3	-	24	4757	c.4266T>G	c.(4264-4266)atT>atG	p.I1422M	SCN3A_ENST00000409101.3_Missense_Mutation_p.I1373M|SCN3A_ENST00000283254.7_Missense_Mutation_p.I1422M	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	1422						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	CTGCATACATAATATCCATCC	0.299													19	90					0	0	1	0	0	C	165953004	A	C	165953004	3	2	432	1	0	0	0	0	1	0	0	0	13972	358	13	5	1756	5	SCN3A	2	165953004	Missense_Mutation	SNP	A	TCGA-S9-A6WN-01A-12D-A33T-08	95544556	165953004	77246369	6	34904											
TTN	7273	broad.mit.edu	37	2	179444038	179444038	+	Frame_Shift_Del	DEL	G	G	-			TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chr2:179444038delG	ENST00000589042.1	-	320	67943	c.67719delC	c.(67717-67719)cccfs	p.P22573fs	TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000460472.2_Frame_Shift_Del_p.P13508fs|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Frame_Shift_Del_p.P13700fs|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Frame_Shift_Del_p.P20005fs|TTN-AS1_ENST00000592630.1_RNA|RP11-171I2.2_ENST00000603521.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000591111.1_Frame_Shift_Del_p.P20932fs|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Frame_Shift_Del_p.P13633fs|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586707.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	20932	Fibronectin type-III 63.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGCCTTTTATGGGGATCTTAA	0.453													35	122	---	---	---	---						-	179444038	G	-	179444038	7	5	432	1	0	1	0	1	0	0	0	0	16797	1335	47	0	40432	0	TTN	2	179444038	Frame_Shift_Del	DEL	G	TCGA-S9-A6WN-01A-12D-A33T-08	13491034	179444038	63755335	7	34905											
TTN	7273	broad.mit.edu	37	2	179516426	179516426	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chr2:179516426C>T	ENST00000589042.1	-	206	39654	c.39430G>A	c.(39430-39432)Gtt>Att	p.V13144I	TTN_ENST00000342992.6_Missense_Mutation_p.V10710I|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.V11637I|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	11497	Ig-like 87.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTTTGGCAACGACAGCAGGT	0.398													15	47					0	0	1	0	0	T	179516426	C	T	179516426	3	4	432	1	0	0	0	0	1	0	0	0	16797	536	19	1	68469	1	TTN	2	179516426	Missense_Mutation	SNP	C	TCGA-S9-A6WN-01A-12D-A33T-08	72388	179516426	63682947	8	34906											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	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	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								36	132					0	0	1	0	0	T	209113112	C	T	209113112	3	4	432	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-S9-A6WN-01A-12D-A33T-08	29596686	209113112	34086261	9	34907											
COL6A3	1293	broad.mit.edu	37	2	238270426	238270426	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chr2:238270426C>T	ENST00000295550.4	-	15	6564	c.6112G>A	c.(6112-6114)Ggg>Agg	p.G2038R	COL6A3_ENST00000409809.1_Missense_Mutation_p.G1832R|COL6A3_ENST00000472056.1_Missense_Mutation_p.G1431R|COL6A3_ENST00000353578.4_Missense_Mutation_p.G1832R|COL6A3_ENST00000346358.4_Missense_Mutation_p.G1838R|COL6A3_ENST00000347401.3_Missense_Mutation_p.G1837R	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	2038	Collagen-like 1.|Nonhelical region.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CCCCTCTGCCCAGAGCACTTG	0.567													22	121					0	0	1	0	0	T	238270426	C	T	238270426	3	4	432	1	0	0	0	0	1	0	0	0	3724	594	21	2	3541	2	COL6A3	2	238270426	Missense_Mutation	SNP	C	TCGA-S9-A6WN-01A-12D-A33T-08	29157314	238270426	4928947	10	34908											
TRAK1	22906	broad.mit.edu	37	3	42264535	42264535	+	Missense_Mutation	SNP	C	C	A			TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chr3:42264535C>A	ENST00000327628.5	+	16	2568	c.2168C>A	c.(2167-2169)tCc>tAc	p.S723Y	TRAK1_ENST00000487159.1_3'UTR|TRAK1_ENST00000396175.1_Missense_Mutation_p.S665Y	NM_001042646.2	NP_001036111.1	Q9UPV9	TRAK1_HUMAN	trafficking protein, kinesin binding 1	723					endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter	early endosome|mitochondrion|nucleus				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	22						CTGGCTGAGTCCTTCACTAAC	0.607													4	99					1	1	1	1	0	A	42264535	C	A	42264535	3	1	432	1	0	0	0	0	1	0	0	0	16510	855	30	5	2618	5	TRAK1	3	42264535	Missense_Mutation	SNP	C	TCGA-S9-A6WN-01A-12D-A33T-08		42264535	155757895	11	34909											
SACM1L	22908	broad.mit.edu	37	3	45751042	45751042	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chr3:45751042A>G	ENST00000389061.5	+	5	590	c.386A>G	c.(385-387)gAt>gGt	p.D129G	SACM1L_ENST00000541314.1_Missense_Mutation_p.D68G|SACM1L_ENST00000464524.1_3'UTR|SACM1L_ENST00000418611.1_Missense_Mutation_p.D26G	NM_014016.3	NP_054735.3	Q9NTJ5	SAC1_HUMAN	SAC1 suppressor of actin mutations 1-like (yeast)	129	SAC.					Golgi apparatus				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.0102)|KIRC - Kidney renal clear cell carcinoma(197;0.0234)|Kidney(197;0.0277)		TTGAATGTGGATGGATTTTAC	0.353													35	141					0	0	1	0	0	G	45751042	A	G	45751042	3	3	432	1	0	0	0	0	1	0	0	0	13855	333	12	3	404	3	SACM1L	3	45751042	Missense_Mutation	SNP	A	TCGA-S9-A6WN-01A-12D-A33T-08	3486507	45751042	152271388	12	34910											
PIK3CA	5290	broad.mit.edu	37	3	178927980	178927980	+	Missense_Mutation	SNP	T	T	C	rs121913272		TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chr3:178927980T>C	ENST00000263967.3	+	8	1415	c.1258T>C	c.(1258-1260)Tgt>Cgt	p.C420R		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	420	C2 PI3K-type.		C -> R (in cancer; shows an increase in lipid kinase activity; may increase the affinity for lipid membranes).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.C420R(40)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TAAGGAACACTGTCCATTGGC	0.328	C420R(CCK81_LARGE_INTESTINE)|C420R(EFM192A_BREAST)|C420R(HEC151_ENDOMETRIUM)|C420R(OVISE_OVARY)	57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			35	122					0	0	1	0	0	C	178927980	T	C	178927980	3	2	432	1	0	0	0	0	1	0	0	0	11961	1580	55	3	1284	3	PIK3CA	3	178927980	Missense_Mutation	SNP	T	TCGA-S9-A6WN-01A-12D-A33T-08	133176938	178927980	19094450	13	34911											
MUC4	4585	broad.mit.edu	37	3	195513519	195513519	+	Silent	SNP	A	A	T			TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chr3:195513519A>T	ENST00000463781.3	-	2	5391	c.4932T>A	c.(4930-4932)ggT>ggA	p.G1644G	MUC4_ENST00000475231.1_Silent_p.G1644G|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	428	VWFD.				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	p.N1637_T1652delNASSLSTGHATPLHVT(2)|p.G1644G(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GGGTGGCGTGACCTGTGGATA	0.587													3	6					0	0	1	0	0	T	195513519	A	T	195513519	2	4	432	1	0	0	0	0	0	0	0	1	10026	262	10	5		5	MUC4	3	195513519	Silent	SNP	A	TCGA-S9-A6WN-01A-12D-A33T-08	16585539	195513519	2508911	14	34912											
FRAS1	80144	broad.mit.edu	37	4	79387504	79387504	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chr4:79387504G>A	ENST00000264895.6	+	50	7612	c.7172G>A	c.(7171-7173)gGc>gAc	p.G2391D		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	2390					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						AGCCATGACGGCAGTAACTCC	0.532													18	63					0	0	1	0	0	A	79387504	G	A	79387504	3	1	432	1	0	0	0	0	1	0	0	0	6076	1203	42	2	7445	2	FRAS1	4	79387504	Missense_Mutation	SNP	G	TCGA-S9-A6WN-01A-12D-A33T-08		79387504	111766772	15	34913											
SKIV2L2	23517	broad.mit.edu	37	5	54654435	54654435	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chr5:54654435G>A	ENST00000230640.5	+	15	1822	c.1568G>A	c.(1567-1569)cGt>cAt	p.R523H	SKIV2L2_ENST00000545714.1_Missense_Mutation_p.R422H	NM_015360.4	NP_056175.3	P42285	SK2L2_HUMAN	superkiller viralicidic activity 2-like 2 (S. cerevisiae)	523	Helicase C-terminal.				maturation of 5.8S rRNA	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	p.R523H(1)|p.R523P(1)		NS(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194)				ATGTCTGGTCGTGCTGGAAGG	0.323													24	95					0	0	1	0	0	A	54654435	G	A	54654435	3	1	432	1	0	0	0	0	1	0	0	0	14415	1145	40	1	1626	1	SKIV2L2	5	54654435	Missense_Mutation	SNP	G	TCGA-S9-A6WN-01A-12D-A33T-08		54654435	126260825	16	34914											
WDR55	54853	broad.mit.edu	37	5	140048330	140048330	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chr5:140048330G>A	ENST00000358337.5	+	4	751	c.514G>A	c.(514-516)Gca>Aca	p.A172T		NM_017706.4	NP_060176	Q9H6Y2	WDR55_HUMAN	WD repeat domain 55	172					rRNA processing	cytoplasm|nucleolus				NS(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGAGTACATCGCAGACATGGC	0.542													26	81					0	0	1	0	0	A	140048330	G	A	140048330	3	1	432	1	0	0	0	0	1	0	0	0	17367	1087	38	1	528	1	WDR55	5	140048330	Missense_Mutation	SNP	G	TCGA-S9-A6WN-01A-12D-A33T-08	85393895	140048330	40866930	17	34915											
TRERF1	55809	broad.mit.edu	37	6	42196333	42196333	+	Frame_Shift_Del	DEL	T	T	-			TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chr6:42196333delT	ENST00000541110.1	-	18	3981	c.3413delA	c.(3412-3414)aagfs	p.K1138fs	TRERF1_ENST00000372922.4_Frame_Shift_Del_p.K1118fs|TRERF1_ENST00000372917.4_Frame_Shift_Del_p.K1047fs|TRERF1_ENST00000340840.2_Frame_Shift_Del_p.K1047fs|TRERF1_ENST00000354325.2_Frame_Shift_Del_p.K1035fs			Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	1118	Interacts with CREBBP.				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CTTCTGAGCCTTTTGCCTCTG	0.542													7	1111	---	---	---	---						-	42196333	T	-	42196333	7	5	432	1	0	1	0	1	0	0	0	0	16536	1609	56	0	253	0	TRERF1	6	42196333	Frame_Shift_Del	DEL	T	TCGA-S9-A6WN-01A-12D-A33T-08		42196333	128918734	18	34916											
ZNF318	24149	broad.mit.edu	37	6	43305258	43305261	+	Frame_Shift_Del	DEL	AATT	AATT	-			TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chr6:43305258_43305261delAATT	ENST00000361428.2	-	10	6552_6555	c.6475_6478delAATT	c.(6475-6480)aattctfs	p.NS2159fs	ZNF318_ENST00000318149.3_Intron	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	2159					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			AGGCCTGCAGAATTAATTGTTTTT	0.446													19	85	---	---	---	---						-	43305261	AATT	-	43305258	7	5	432	1	0	1	0	1	0	0	0	0	17893	246	9	0	365	0	ZNF318	6	43305258	Frame_Shift_Del	DEL	AATT	TCGA-S9-A6WN-01A-12D-A33T-08	1108925	43305258	127809809	19	34917											
THBS2	7058	broad.mit.edu	37	6	169622399	169622399	+	Missense_Mutation	SNP	G	G	A	rs141219768		TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chr6:169622399G>A	ENST00000366787.3	-	20	3415	c.3166C>T	c.(3166-3168)Cgg>Tgg	p.R1056W	THBS2_ENST00000488355.1_5'UTR|XXyac-YX65C7_A.2_ENST00000444188.1_RNA	NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	1056	TSP C-terminal.				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity			NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		CCATAGGCCCGCGTGGGCTGG	0.632													3	80					0	0	1	0	0	A	169622399	G	A	169622399	3	1	432	1	0	0	0	0	1	0	0	0	15914	1086	38	1	368	1	THBS2	6	169622399	Missense_Mutation	SNP	G	TCGA-S9-A6WN-01A-12D-A33T-08	126317141	169622399	1492668	20	34918											
EGFR	1956	broad.mit.edu	37	7	55260505	55260505	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chr7:55260505A>G	ENST00000275493.2	+	22	2849	c.2672A>G	c.(2671-2673)tAt>tGt	p.Y891C	EGFR_ENST00000454757.2_Missense_Mutation_p.Y838C|EGFR_ENST00000455089.1_Missense_Mutation_p.Y846C|EGFR_ENST00000442591.1_Intron	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	891	Protein kinase.				activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	CACAGAATCTATACCCACCAG	0.428		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			26	99					0	0	1	0	0	G	55260505	A	G	55260505	3	3	432	1	0	0	0	0	1	0	0	0	4993	449	16	3	3022	3	EGFR	7	55260505	Missense_Mutation	SNP	A	TCGA-S9-A6WN-01A-12D-A33T-08		55260505	103878158	21	34919											
WBSCR22	114049	broad.mit.edu	37	7	73098135	73098135	+	Missense_Mutation	SNP	G	G	A	rs111971609		TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chr7:73098135G>A	ENST00000423166.2	+	2	106	c.59G>A	c.(58-60)aGt>aAt	p.S20N	WBSCR22_ENST00000423497.1_Splice_Site|WBSCR22_ENST00000464615.1_Intron|WBSCR22_ENST00000265758.2_Splice_Site			O43709	WBS22_HUMAN	Williams Beuren syndrome chromosome region 22	0						nucleus	methyltransferase activity			autonomic_ganglia(1)|large_intestine(2)|lung(9)|prostate(1)	13		Lung NSC(55;0.0908)|all_lung(88;0.198)				ACGTTCGCAAGTGAGGGGAGC	0.572													6	275					0	0	1	0	0	A	73098135	G	A	73098135	3	1	432	1	0	0	0	0	1	0	0	0	17325	1043	36	2	93	2	WBSCR22	7	73098135	Missense_Mutation	SNP	G	TCGA-S9-A6WN-01A-12D-A33T-08	17837630	73098135	86040528	22	34920											
CSMD3	114788	broad.mit.edu	37	8	113420579	113420579	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chr8:113420579A>G	ENST00000297405.5	-	34	5817	c.5573T>C	c.(5572-5574)aTa>aCa	p.I1858T	CSMD3_ENST00000343508.3_Missense_Mutation_p.I1818T|CSMD3_ENST00000455883.2_Missense_Mutation_p.I1754T|CSMD3_ENST00000352409.3_Intron	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1858	CUB 10.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CTTAGCTGTTATTGGTCCAAC	0.348										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			62	203					0	0	1	0	0	G	113420579	A	G	113420579	3	3	432	1	0	0	0	0	1	0	0	0	3971	449	16	3	5702	3	CSMD3	8	113420579	Missense_Mutation	SNP	A	TCGA-S9-A6WN-01A-12D-A33T-08		113420579	32943443	23	34921											
LINGO2	158038	broad.mit.edu	37	9	27949432	27949432	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chr9:27949432C>T	ENST00000379992.2	-	6	1687	c.1238G>A	c.(1237-1239)cGt>cAt	p.R413H	LINGO2_ENST00000308675.3_Missense_Mutation_p.R413H	NM_152570.2	NP_689783.1	Q7L985	LIGO2_HUMAN	leucine rich repeat and Ig domain containing 2	413	Ig-like C2-type.					integral to membrane		p.R413H(2)		autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		CTTCTTTTCACGGATTTTGGG	0.488													41	156					0	0	1	0	0	T	27949432	C	T	27949432	3	4	432	1	0	0	0	0	1	0	0	0	8856	536	19	1	586	1	LINGO2	9	27949432	Missense_Mutation	SNP	C	TCGA-S9-A6WN-01A-12D-A33T-08		27949432	113263999	24	34922											
FCN1	2219	broad.mit.edu	37	9	137809638	137809638	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chr9:137809638G>A	ENST00000371806.3	-	1	171	c.80C>T	c.(79-81)gCc>gTc	p.A27V		NM_002003.3	NP_001994.2	O00602	FCN1_HUMAN	ficolin (collagen/fibrinogen domain containing) 1	27					opsonization|signal transduction	collagen|extracellular space	antigen binding|calcium ion binding|receptor binding|sugar binding			endometrium(3)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	37		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.46e-08)|Epithelial(140;6.01e-08)|all cancers(34;3.69e-07)		CGCAGCCTGGGCAGGCAGGTT	0.582													32	88					0	0	1	0	0	A	137809638	G	A	137809638	3	1	432	1	0	0	0	0	1	0	0	0	5824	1203	42	2	936	2	FCN1	9	137809638	Missense_Mutation	SNP	G	TCGA-S9-A6WN-01A-12D-A33T-08	109860206	137809638	3403793	25	34923											
ENTPD7	57089	broad.mit.edu	37	10	101458364	101458364	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chr10:101458364G>A	ENST00000370489.4	+	10	1262	c.1084G>A	c.(1084-1086)Gat>Aat	p.D362N		NM_020354.3	NP_065087.1	Q9NQZ7	ENTP7_HUMAN	ectonucleoside triphosphate diphosphohydrolase 7	362						cytoplasmic vesicle membrane|integral to membrane	hydrolase activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|urinary_tract(1)	18		Colorectal(252;0.234)		Epithelial(162;4.72e-10)|all cancers(201;3.75e-08)		GGGACTCACAGATGTGGTGGA	0.537													26	105					0	0	1	0	0	A	101458364	G	A	101458364	3	1	432	1	0	0	0	0	1	0	0	0	5172	942	33	2	1118	2	ENTPD7	10	101458364	Missense_Mutation	SNP	G	TCGA-S9-A6WN-01A-12D-A33T-08		101458364	34076383	26	34924											
OR9Q1	219956	broad.mit.edu	37	11	57947730	57947730	+	Missense_Mutation	SNP	G	G	T			TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chr11:57947730G>T	ENST00000335397.3	+	3	1130	c.814G>T	c.(814-816)Gta>Tta	p.V272L		NM_001005212.3	NP_001005212.1	Q8NGQ5	OR9Q1_HUMAN	olfactory receptor, family 9, subfamily Q, member 1	272					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Breast(21;0.222)				GAAGAATCGGGTAGTGTCTGT	0.488													47	156					1.56793e-16	1.69042e-16	1	1	0	T	57947730	G	T	57947730	3	4	432	1	0	0	0	0	1	0	0	0	11302	1261	44	5	816	5	OR9Q1	11	57947730	Missense_Mutation	SNP	G	TCGA-S9-A6WN-01A-12D-A33T-08		57947730	77058786	27	34925											
RAD9A	5883	broad.mit.edu	37	11	67159688	67159688	+	Missense_Mutation	SNP	C	C	A			TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chr11:67159688C>A	ENST00000307980.2	+	2	184	c.91C>A	c.(91-93)Ccc>Acc	p.P31T		NM_001243224.1|NM_004584.2	NP_001230153.1|NP_004575.1	Q99638	RAD9A_HUMAN	RAD9 homolog A (S. pombe)	31					DNA damage checkpoint|DNA repair|DNA replication|DNA replication checkpoint	nucleoplasm	3'-5' exonuclease activity|exodeoxyribonuclease III activity|histone deacetylase binding|protein kinase binding|SH3 domain binding			lung(7)|upper_aerodigestive_tract(1)	8			BRCA - Breast invasive adenocarcinoma(15;8.53e-07)			CTACCTGGAACCCTTGGAGGA	0.701								Other conserved DNA damage response genes					9	27					0.000274275	0.000282462	1	1	0	A	67159688	C	A	67159688	3	1	432	1	0	0	0	0	1	0	0	0	13047	507	18	5	97	5	RAD9A	11	67159688	Missense_Mutation	SNP	C	TCGA-S9-A6WN-01A-12D-A33T-08	9211958	67159688	67846828	28	34926											
HTR3A	3359	broad.mit.edu	37	11	113856763	113856763	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chr11:113856763C>T	ENST00000504030.2	+	6	1016	c.571C>T	c.(571-573)Cgc>Tgc	p.R191C	HTR3A_ENST00000375498.2_Missense_Mutation_p.R197C|HTR3A_ENST00000355556.2_Missense_Mutation_p.R197C|HTR3A_ENST00000535865.1_Intron|HTR3A_ENST00000299961.5_Missense_Mutation_p.R176C|HTR3A_ENST00000506841.2_Missense_Mutation_p.R191C			P46098	5HT3A_HUMAN	5-hydroxytryptamine (serotonin) receptor 3A, ionotropic	191					digestion|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity	p.R191G(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199)	CTCTTTGTGGCGCTTGCCAGA	0.527													108	373					0	0	1	0	0	T	113856763	C	T	113856763	3	4	432	1	0	0	0	0	1	0	0	0	7488	768	27	1	637	1	HTR3A	11	113856763	Missense_Mutation	SNP	C	TCGA-S9-A6WN-01A-12D-A33T-08	46697075	113856763	21149753	29	34927											
TMEM225	338661	broad.mit.edu	37	11	123756083	123756083	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chr11:123756083G>A	ENST00000375026.2	-	1	266	c.50C>T	c.(49-51)tCc>tTc	p.S17F		NM_001013743.1	NP_001013765.1	Q6GV28	TM225_HUMAN	transmembrane protein 225	17						integral to membrane				endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	28						GGCCCAGGAGGAGAAAAGTAT	0.408													34	133					0	0	1	0	0	A	123756083	G	A	123756083	3	1	432	1	0	0	0	0	1	0	0	0	16207	1174	41	2	643	2	TMEM225	11	123756083	Missense_Mutation	SNP	G	TCGA-S9-A6WN-01A-12D-A33T-08	9899320	123756083	11250433	30	34928											
SLCO1B3	28234	broad.mit.edu	37	12	21028267	21028267	+	Frame_Shift_Del	DEL	T	T	-			TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chr12:21028267delT	ENST00000381545.3	+	9	1045	c.826delT	c.(826-828)tttfs	p.F278fs	LST3_ENST00000540229.1_Frame_Shift_Del_p.F278fs|LST3_ENST00000381541.3_Intron|SLCO1B3_ENST00000261196.2_Frame_Shift_Del_p.F278fs|SLCO1B3_ENST00000553473.1_Frame_Shift_Del_p.F278fs|SLCO1B7_ENST00000554957.1_Intron	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family, member 1B3	278					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)					TTCCATACCATTTTTTTTCTT	0.363													7	200	---	---	---	---						-	21028267	T	-	21028267	7	5	432	1	0	1	0	1	0	0	0	0	14779	1493	52	0	852	0	SLCO1B3	12	21028267	Frame_Shift_Del	DEL	T	TCGA-S9-A6WN-01A-12D-A33T-08		21028267	112823628	31	34929											
MBD6	114785	broad.mit.edu	37	12	57921956	57921957	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chr12:57921956_57921957delCT	ENST00000355673.3	+	10	2789_2790	c.2433_2434delCT	c.(2431-2436)ccctgtfs	p.C812fs	MBD6_ENST00000431731.2_Frame_Shift_Del_p.C812fs	NM_052897.3	NP_443129.3	Q96DN6	MBD6_HUMAN	methyl-CpG binding domain protein 6	812	Pro-rich.					chromosome|nucleus	chromatin binding|DNA binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						CAGAAGCCCCCTGTCTACCCCC	0.574													25	115	---	---	---	---						-	57921957	CT	-	57921956	7	5	432	1	0	1	0	1	0	0	0	0	9398	668	24	0	2463	0	MBD6	12	57921956	Frame_Shift_Del	DEL	CT	TCGA-S9-A6WN-01A-12D-A33T-08	36893689	57921956	75929939	32	34930											
UBC	7316	broad.mit.edu	37	12	125397663	125397663	+	Silent	SNP	A	A	G			TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chr12:125397663A>G	ENST00000536769.1	-	1	2231	c.655T>C	c.(655-657)Ttg>Ctg	p.L219L	UBC_ENST00000538617.1_Intron|UBC_ENST00000339647.5_Silent_p.L219L|UBC_ENST00000546120.1_Silent_p.L143L			P0CG48	UBC_HUMAN	ubiquitin C	219	Ubiquitin-like 3.				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding			breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		ACCAGGTGCAAGGTGGACTCT	0.517													8	188					0	0	1	0	0	G	125397663	A	G	125397663	2	3	432	1	0	0	0	0	0	0	0	1	16903	69	3	3		3	UBC	12	125397663	Silent	SNP	A	TCGA-S9-A6WN-01A-12D-A33T-08	67475707	125397663	8454232	33	34931											
N4BP2L2	10443	broad.mit.edu	37	13	33017320	33017320	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chr13:33017320G>A	ENST00000357505.6	-	7	1413	c.1309C>T	c.(1309-1311)Cca>Tca	p.P437S	N4BP2L2_ENST00000446957.2_Intron|N4BP2L2_ENST00000399396.3_Missense_Mutation_p.P452S|N4BP2L2_ENST00000504114.1_Missense_Mutation_p.P437S|N4BP2L2_ENST00000380121.3_5'UTR	NM_001278432.1	NP_001265361.1	Q92802	N42L2_HUMAN	NEDD4 binding protein 2-like 2	108										kidney(4)|large_intestine(3)|liver(1)|lung(6)|skin(1)|urinary_tract(1)	16		Lung SC(185;0.0262)		all cancers(112;9.5e-07)|Epithelial(112;5.07e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00196)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.243)		GTTTCAGGTGGAGGTGAAAAA	0.373													20	73					0	0	1	0	0	A	33017320	G	A	33017320	3	1	432	1	0	0	0	0	1	0	0	0	10160	1174	41	2	916	2	N4BP2L2	13	33017320	Missense_Mutation	SNP	G	TCGA-S9-A6WN-01A-12D-A33T-08		33017320	82152558	34	34932											
SPERT	220082	broad.mit.edu	37	13	46276937	46276937	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chr13:46276937A>G	ENST00000310521.1	+	2	183	c.103A>G	c.(103-105)Aga>Gga	p.R35G		NM_152719.1	NP_689932.1	Q8NA61	SPERT_HUMAN	spermatid associated	35						cytoplasmic membrane-bounded vesicle				NS(1)|central_nervous_system(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	15		Breast(56;0.000819)|Lung NSC(96;0.00227)|Prostate(109;0.00703)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;7.26e-05)		TACAAGAAAAAGAGATACCAG	0.423													4	151					0	0	1	0	0	G	46276937	A	G	46276937	3	3	432	1	0	0	0	0	1	0	0	0	15095	64	3	3	109	3	SPERT	13	46276937	Missense_Mutation	SNP	A	TCGA-S9-A6WN-01A-12D-A33T-08	13259617	46276937	68892941	35	34933											
CKAP2	26586	broad.mit.edu	37	13	53035286	53035286	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chr13:53035286A>G	ENST00000378037.5	+	4	418	c.328A>G	c.(328-330)Acc>Gcc	p.T110A	CKAP2_ENST00000258607.5_Missense_Mutation_p.T109A|CKAP2_ENST00000378034.3_Missense_Mutation_p.T109A|CKAP2_ENST00000490903.1_Missense_Mutation_p.T61A	NM_001098525.1|NM_018204.3	NP_001091995.1|NP_060674.3	Q8WWK9	CKAP2_HUMAN	cytoskeleton associated protein 2	110					apoptosis|cell cycle	centrosome|microtubule|spindle pole				breast(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(3)|skin(1)|urinary_tract(1)	20		Breast(56;0.000207)|Lung NSC(96;0.00212)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.6e-08)		AAATGAACTAACCAATTCAAC	0.358													8	202					0	0	1	0	0	G	53035286	A	G	53035286	3	3	432	1	0	0	0	0	1	0	0	0	3465	43	2	3	342	3	CKAP2	13	53035286	Missense_Mutation	SNP	A	TCGA-S9-A6WN-01A-12D-A33T-08	6758349	53035286	62134592	36	34934											
FITM1	161247	broad.mit.edu	37	14	24600895	24600895	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chr14:24600895A>G	ENST00000558325.1	+	3	685	c.685A>G	c.(685-687)Aca>Gca	p.T229A	FITM1_ENST00000267426.5_Silent_p.E41E																							TTGGAAGCGAACAGGCCGCCC	0.657													24	77					0	0	1	0	0	G	24600895	A	G	24600895	3	3	432	1	0	0	0	0	1	0	0	0	5931	40	2	3	125	3	FITM1	14	24600895	Missense_Mutation	SNP	A	TCGA-S9-A6WN-01A-12D-A33T-08		24600895	82748645	37	34935											
CGRRF1	10668	broad.mit.edu	37	14	54989229	54989229	+	Silent	SNP	A	A	G			TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chr14:54989229A>G	ENST00000216420.7	+	2	294	c.162A>G	c.(160-162)acA>acG	p.T54T	CGRRF1_ENST00000557512.1_3'UTR	NM_006568.2	NP_006559.1	Q99675	CGRF1_HUMAN	cell growth regulator with ring finger domain 1	54					cell cycle arrest|negative regulation of cell proliferation|response to stress		zinc ion binding			endometrium(3)|kidney(2)|lung(5)|ovary(2)|stomach(1)	13						AGTTCAGCACAAGAGTTTTCA	0.338													5	170					0	0	1	0	0	G	54989229	A	G	54989229	2	3	432	1	0	0	0	0	0	0	0	1	3328	117	5	3		3	CGRRF1	14	54989229	Silent	SNP	A	TCGA-S9-A6WN-01A-12D-A33T-08	30388334	54989229	52360311	38	34936											
PPP1R14D	54866	broad.mit.edu	37	15	41120653	41120653	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chr15:41120653G>A	ENST00000299174.5	-	1	254	c.187C>T	c.(187-189)Cgg>Tgg	p.R63W	PPP1R14D_ENST00000427255.2_Missense_Mutation_p.R63W	NM_017726.7	NP_060196.1	Q9NXH3	PP14D_HUMAN	protein phosphatase 1, regulatory (inhibitor) subunit 14D	63					regulation of phosphorylation	cytoplasm	protein phosphatase inhibitor activity	p.R63W(1)		breast(1)|large_intestine(2)|lung(2)|skin(1)	6		all_cancers(109;6.29e-14)|all_epithelial(112;1.48e-11)|Lung NSC(122;5.77e-09)|all_lung(180;1.08e-07)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;2.88e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166)		AGCTGGCCCCGGTCATACTTC	0.592													37	135					0	0	1	0	0	A	41120653	G	A	41120653	3	1	432	1	0	0	0	0	1	0	0	0	12411	1115	39	1	435	1	PPP1R14D	15	41120653	Missense_Mutation	SNP	G	TCGA-S9-A6WN-01A-12D-A33T-08		41120653	61410739	39	34937											
PLCG2	5336	broad.mit.edu	37	16	81990347	81990347	+	Silent	SNP	G	G	A			TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chr16:81990347G>A	ENST00000359376.3	+	32	3832	c.3618G>A	c.(3616-3618)cgG>cgA	p.R1206R		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	1206					intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	p.R1206R(1)		NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						TGAGGAGGCGGCAAGAAGAAC	0.512													5	119					0	0	1	0	0	A	81990347	G	A	81990347	2	1	432	1	0	0	0	0	0	0	0	1	12084	1190	42	2		2	PLCG2	16	81990347	Silent	SNP	G	TCGA-S9-A6WN-01A-12D-A33T-08		81990347	8364406	40	34938											
INPP5K	51763	broad.mit.edu	37	17	1401275	1401275	+	Silent	SNP	G	G	A			TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chr17:1401275G>A	ENST00000406424.4	-	10	1550	c.690C>T	c.(688-690)taC>taT	p.Y230Y	INPP5K_ENST00000421807.2_Silent_p.Y306Y|INPP5K_ENST00000320345.6_Silent_p.Y230Y|INPP5K_ENST00000542125.1_Silent_p.Y210Y|INPP5K_ENST00000397335.3_Silent_p.Y214Y	NM_001135642.1	NP_001129114.1	Q9BT40	INP5K_HUMAN	inositol polyphosphate-5-phosphatase K	306	Catalytic (Potential).				actin cytoskeleton organization	cytosol|endoplasmic reticulum|membrane fraction|neuron projection|ruffle	inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol bisphosphate phosphatase activity|inositol trisphosphate phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|lipid phosphatase activity|protein binding			endometrium(1)|large_intestine(7)|lung(3)|skin(1)	12						CGCTGATGCCGTACGTCATGT	0.607													5	367					0	0	1	0	0	A	1401275	G	A	1401275	2	1	432	1	0	0	0	0	0	0	0	1	7804	1140	40	1		1	INPP5K	17	1401275	Silent	SNP	G	TCGA-S9-A6WN-01A-12D-A33T-08		1401275	79793935	41	34939											
ZACN	353174	broad.mit.edu	37	17	74077738	74077738	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chr17:74077738G>A	ENST00000334586.5	+	7	865	c.782G>A	c.(781-783)cGc>cAc	p.R261H	EXOC7_ENST00000607838.1_3'UTR|EXOC7_ENST00000589210.1_3'UTR|EXOC7_ENST00000332065.5_3'UTR|EXOC7_ENST00000591724.1_Intron	NM_180990.3	NP_851321.2	Q401N2	ZACN_HUMAN	zinc activated ligand-gated ion channel	261	Leu-rich.				response to zinc ion	integral to membrane|membrane fraction|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	11						GCCATTGAGCGCATAGGCTAC	0.622													6	229					0	0	1	0	0	A	74077738	G	A	74077738	3	1	432	1	0	0	0	0	1	0	0	0	17570	1087	38	1	808	1	ZACN	17	74077738	Missense_Mutation	SNP	G	TCGA-S9-A6WN-01A-12D-A33T-08	72676463	74077738	7117472	42	34940											
UNC13A	23025	broad.mit.edu	37	19	17785503	17785503	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chr19:17785503G>A	ENST00000428389.2	-	4	378	c.379C>T	c.(379-381)Cgg>Tgg	p.R127W	UNC13A_ENST00000551649.1_Missense_Mutation_p.R39W|UNC13A_ENST00000252773.7_Missense_Mutation_p.R39W|UNC13A_ENST00000550896.1_Missense_Mutation_p.R39W|UNC13A_ENST00000519716.2_Missense_Mutation_p.R39W|UNC13A_ENST00000552293.1_Missense_Mutation_p.R39W			Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	39					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						TGGCTGCCCCGCACCGCGATG	0.602													5	163					0	0	1	0	0	A	17785503	G	A	17785503	3	1	432	1	0	0	0	0	1	0	0	0	17044	1086	38	1	5156	1	UNC13A	19	17785503	Missense_Mutation	SNP	G	TCGA-S9-A6WN-01A-12D-A33T-08		17785503	41343480	43	34941											
ARRDC2	27106	broad.mit.edu	37	19	18119539	18119539	+	Silent	SNP	G	G	A			TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chr19:18119539G>A	ENST00000379656.3	+	2	462	c.279G>A	c.(277-279)acG>acA	p.T93T	ARRDC2_ENST00000608009.1_3'UTR|ARRDC2_ENST00000222250.4_Silent_p.T98T	NM_001025604.1	NP_001020775.1	Q8TBH0	ARRD2_HUMAN	arrestin domain containing 2											endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)	12						AGACCACGACGCTGCCTCCTG	0.642													30	114					0	0	1	0	0	A	18119539	G	A	18119539	2	1	432	1	0	0	0	0	0	0	0	1	982	1074	38	1		1	ARRDC2	19	18119539	Silent	SNP	G	TCGA-S9-A6WN-01A-12D-A33T-08	334036	18119539	41009444	44	34942											
PIK3IP1	113791	broad.mit.edu	37	22	31685255	31685275	+	In_Frame_Del	DEL	CCTTCCTCCCCTCCTCCTAAG	CCTTCCTCCCCTCCTCCTAAG	-	rs2073861	by1000genomes	TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chr22:31685255_31685275delCCTTCCTCCCCTCCTCCTAAG	ENST00000402249.3	-	5	747_767	c.613_633delCTTAGGAGGAGGGGAGGAAGG	c.(613-633)cttaggaggaggggaggaaggdel	p.LRRRGGR205del	PIK3IP1_ENST00000215912.5_Intron|PIK3IP1_ENST00000441972.1_Intron|PIK3IP1_ENST00000487265.2_Intron			Q96FE7	P3IP1_HUMAN	phosphoinositide-3-kinase interacting protein 1	0						integral to membrane				large_intestine(2)|lung(1)|ovary(1)	4						ACTTTGTGTACCTTCCTCCCCTCCTCCTAAGAGGGCCCAGA	0.475													9	31	---	---	---	---						-	31685275	CCTTCCTCCCCTCCTCCTAAG	-	31685255	7	5	432	1	0	1	0	1	0	0	0	0	11965	522	18	0		0	PIK3IP1	22	31685255	In_Frame_Del	DEL	CCTTCCTCCCCTCCTCCTAAG	TCGA-S9-A6WN-01A-12D-A33T-08		31685255	19619311	45	34943											
MXRA5	25878	broad.mit.edu	37	X	3240986	3240986	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chrX:3240986T>C	ENST00000217939.6	-	5	2894	c.2740A>G	c.(2740-2742)Ata>Gta	p.I914V		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	914						extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GGCTCAGATATAAGTGTAGGG	0.498													7	184					0	0	1	0	0	C	3240986	T	C	3240986	3	2	432	1	0	0	0	0	1	0	0	0	10051	1406	49	3	5758	3	MXRA5	23	3240986	Missense_Mutation	SNP	T	TCGA-S9-A6WN-01A-12D-A33T-08		3240986	152029574	46	34944											
FTSJ1	24140	broad.mit.edu	37	X	48337016	48337016	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chrX:48337016C>T	ENST00000019019.2	+	5	632	c.203C>T	c.(202-204)tCc>tTc	p.S68F	FTSJ1_ENST00000396894.4_Intron|FTSJ1_ENST00000456787.1_Missense_Mutation_p.S68F|FTSJ1_ENST00000348411.2_Missense_Mutation_p.S68F	NM_177439.1	NP_803188.1	Q9UET6	RRMJ1_HUMAN	FtsJ RNA methyltransferase homolog 1 (E. coli)	68					RNA methylation|rRNA processing		methyltransferase activity|nucleic acid binding			breast(1)|central_nervous_system(1)|lung(4)|skin(1)	7						GGCCAAGGGTCCGGCCACGTG	0.657													11	41					0	0	1	0	0	T	48337016	C	T	48337016	3	4	432	1	0	0	0	0	1	0	0	0	6122	855	30	2	213	2	FTSJ1	23	48337016	Missense_Mutation	SNP	C	TCGA-S9-A6WN-01A-12D-A33T-08	45096030	48337016	106933544	47	34945											
ZMYM3	9203	broad.mit.edu	37	X	70469912	70469912	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chrX:70469912G>A	ENST00000373978.1	-	5	1003	c.926C>T	c.(925-927)aCg>aTg	p.T309M	ZMYM3_ENST00000373998.1_Silent_p.D405D|ZMYM3_ENST00000353904.2_Silent_p.D405D|ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000373981.1_Silent_p.D405D|ZMYM3_ENST00000373988.1_Silent_p.D407D|ZMYM3_ENST00000373982.1_Silent_p.D407D|ZMYM3_ENST00000373984.3_Silent_p.D407D|ZMYM3_ENST00000314425.5_Silent_p.D405D			Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	0					multicellular organismal development	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					AGCGAGTAGCGTCGGCGGGAT	0.622													14	50					0	0	1	0	0	A	70469912	G	A	70469912	3	1	432	1	0	0	0	0	1	0	0	0	17759	1136	40	1	2995	1	ZMYM3	23	70469912	Missense_Mutation	SNP	G	TCGA-S9-A6WN-01A-12D-A33T-08	22132896	70469912	84800648	48	34946											
ZCCHC5	203430	broad.mit.edu	37	X	77913570	77913570	+	Silent	SNP	C	C	T	rs139493021	byFrequency	TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chrX:77913570C>T	ENST00000321110.1	-	2	643	c.348G>A	c.(346-348)gcG>gcA	p.A116A		NM_152694.2	NP_689907.1	Q8N8U3	ZCHC5_HUMAN	zinc finger, CCHC domain containing 5	116	Pro-rich.						nucleic acid binding|zinc ion binding	p.A116A(2)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1)	37						TTGCTGGAGGCGCCAGGGACT	0.632													21	62					0	0	1	0	0	T	77913570	C	T	77913570	2	4	432	1	0	0	0	0	0	0	0	1	17649	755	27	1		1	ZCCHC5	23	77913570	Silent	SNP	C	TCGA-S9-A6WN-01A-12D-A33T-08	7443658	77913570	77356990	49	34947											
CUL4B	8450	broad.mit.edu	37	X	119678007	119678007	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chrX:119678007A>G	ENST00000371322.5	-	7	1196	c.1135T>C	c.(1135-1137)Tat>Cat	p.Y379H	CUL4B_ENST00000404115.3_Missense_Mutation_p.Y397H|CUL4B_ENST00000336592.6_Missense_Mutation_p.Y384H	NM_001079872.1	NP_001073341.1	Q13620	CUL4B_HUMAN	cullin 4B	397					cell cycle|DNA repair|ubiquitin-dependent protein catabolic process	Cul4B-RING ubiquitin ligase complex|nucleus	protein binding|ubiquitin protein ligase binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						TCAGCTGCATAGAGCCGGTTA	0.333													32	131					0	0	1	0	0	G	119678007	A	G	119678007	3	3	432	1	0	0	0	0	1	0	0	0	4081	420	15	3	1608	3	CUL4B	23	119678007	Missense_Mutation	SNP	A	TCGA-S9-A6WN-01A-12D-A33T-08	41764437	119678007	35592553	50	34948											
FMR1	2332	broad.mit.edu	37	X	147014218	147014219	+	Frame_Shift_Ins	INS	-	-	A			TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chrX:147014218_147014219insA	ENST00000218200.8	+	9	1045_1046	c.816_817insA	c.(817-819)aaafs	p.K273fs	FMR1_ENST00000334557.6_Frame_Shift_Ins_p.K273fs|FMR1_ENST00000370471.3_Frame_Shift_Ins_p.K273fs|FMR1_ENST00000440235.2_5'UTR|FMR1_ENST00000439526.2_Frame_Shift_Ins_p.K273fs|FMR1_ENST00000370477.1_Frame_Shift_Ins_p.K273fs|FMR1_ENST00000370470.1_Frame_Shift_Ins_p.K273fs|FMR1_ENST00000370475.4_Frame_Shift_Ins_p.K273fs	NM_001185076.1|NM_001185082.1	NP_001172005.1|NP_001172011.1	Q06787	FMR1_HUMAN	fragile X mental retardation 1	273					mRNA transport|negative regulation of translational initiation	cytoplasm|mRNA cap binding complex|nucleolus|nucleoplasm|soluble fraction	mRNA binding|protein binding			NS(1)|breast(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	35	Acute lymphoblastic leukemia(192;6.56e-05)					AGGATGCAGTGAAAAAAGCTAG	0.332									Fragile X syndrome				56	253	---	---	---	---						A	147014219	-	A	147014218	7	5	432	1	0	1	1	0	0	0	0	0	5993	1277	45	0	850	0	FMR1	23	147014218	Frame_Shift_Ins	INS	-	TCGA-S9-A6WN-01A-12D-A33T-08	27336211	147014218	8256342	51	34949											
C1orf87	127795	broad.mit.edu	37	1	60505832	60505832	+	Missense_Mutation	SNP	A	A	C			TCGA-S9-A6WO-01A-21D-A34A-08	TCGA-S9-A6WO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2180fc91-787b-4cb2-b55d-94d2657a5e96	30163d6a-a79d-4c5d-9b0d-6de0eae88352	g.chr1:60505832A>C	ENST00000371201.3	-	5	611	c.504T>G	c.(502-504)agT>agG	p.S168R	C1orf87_ENST00000450089.2_Intron	NM_152377.2	NP_689590.1	Q8N0U7	CA087_HUMAN	chromosome 1 open reading frame 87	168							calcium ion binding			breast(2)|endometrium(2)|large_intestine(6)|lung(19)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33						TTGTTGTCCCACTTGGGCTCT	0.443													32	69					0	0	1	0	0	C	60505832	A	C	60505832	3	2	433	1	0	0	0	0	1	0	0	0	2078	156	6	5	1168	5	C1orf87	1	60505832	Missense_Mutation	SNP	A	TCGA-S9-A6WO-01A-21D-A34A-08		60505832	188744789	1	34950											
PRG4	10216	broad.mit.edu	37	1	186273287	186273287	+	Missense_Mutation	SNP	T	T	C	rs150567824		TCGA-S9-A6WO-01A-21D-A34A-08	TCGA-S9-A6WO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2180fc91-787b-4cb2-b55d-94d2657a5e96	30163d6a-a79d-4c5d-9b0d-6de0eae88352	g.chr1:186273287T>C	ENST00000445192.2	+	5	412	c.367T>C	c.(367-369)Tca>Cca	p.S123P	PRG4_ENST00000367483.4_Missense_Mutation_p.S82P|PRG4_ENST00000367484.3_Missense_Mutation_p.S82P|PRG4_ENST00000367485.4_Intron|PRG4_ENST00000367486.3_Missense_Mutation_p.S123P	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	123					cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						ACCTCCACCTTCAGGAGCATC	0.408													25	70					0	0	1	0	0	C	186273287	T	C	186273287	3	2	433	1	0	0	0	0	1	0	0	0	12533	1783	62	3	381	3	PRG4	1	186273287	Missense_Mutation	SNP	T	TCGA-S9-A6WO-01A-21D-A34A-08	125767455	186273287	62977334	2	34951											
CFH	3075	broad.mit.edu	37	1	196716343	196716343	+	Missense_Mutation	SNP	T	T	A			TCGA-S9-A6WO-01A-21D-A34A-08	TCGA-S9-A6WO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2180fc91-787b-4cb2-b55d-94d2657a5e96	30163d6a-a79d-4c5d-9b0d-6de0eae88352	g.chr1:196716343T>A	ENST00000367429.4	+	22	3836	c.3596T>A	c.(3595-3597)tTt>tAt	p.F1199Y		NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	1199	Sushi 20.		F -> S (in AHUS1).		complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						TCAGTTGAATTTGTGTGTAAA	0.398													5	157					0	0	1	0	0	A	196716343	T	A	196716343	3	1	433	1	0	0	0	0	1	0	0	0	3305	1841	64	5	3700	5	CFH	1	196716343	Missense_Mutation	SNP	T	TCGA-S9-A6WO-01A-21D-A34A-08	10443056	196716343	52534278	3	34952											
DYSF	8291	broad.mit.edu	37	2	71797733	71797733	+	Nonsense_Mutation	SNP	G	G	A			TCGA-S9-A6WO-01A-21D-A34A-08	TCGA-S9-A6WO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2180fc91-787b-4cb2-b55d-94d2657a5e96	30163d6a-a79d-4c5d-9b0d-6de0eae88352	g.chr2:71797733G>A	ENST00000258104.3	+	29	3313	c.3036G>A	c.(3034-3036)tgG>tgA	p.W1012*	DYSF_ENST00000409651.1_Nonsense_Mutation_p.W1044*|DYSF_ENST00000410041.1_Nonsense_Mutation_p.W1030*|DYSF_ENST00000394120.2_Nonsense_Mutation_p.W1013*|DYSF_ENST00000409582.3_Nonsense_Mutation_p.W1029*|DYSF_ENST00000413539.2_Nonsense_Mutation_p.W1043*|DYSF_ENST00000409366.1_Nonsense_Mutation_p.W1013*|DYSF_ENST00000409744.1_Nonsense_Mutation_p.W999*|DYSF_ENST00000410020.3_Nonsense_Mutation_p.W1030*|DYSF_ENST00000429174.2_Nonsense_Mutation_p.W1012*|DYSF_ENST00000409762.1_Nonsense_Mutation_p.W1029*	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1012						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						CCCCAGGCTGGGAGTATAGCA	0.617													10	11					0	0	1	0	0	A	71797733	G	A	71797733	4	1	433	1	0	0	0	0	0	1	0	0	4885	1241	43	2	3342	2	DYSF	2	71797733	Nonsense_Mutation	SNP	G	TCGA-S9-A6WO-01A-21D-A34A-08		71797733	171401640	4	34953											
CTNNA2	1496	broad.mit.edu	37	2	80835412	80835412	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A6WO-01A-21D-A34A-08	TCGA-S9-A6WO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2180fc91-787b-4cb2-b55d-94d2657a5e96	30163d6a-a79d-4c5d-9b0d-6de0eae88352	g.chr2:80835412A>G	ENST00000466387.1	+	21	3123	c.2399A>G	c.(2398-2400)cAg>cGg	p.Q800R	CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000343114.3_Missense_Mutation_p.Q479R|AC008067.2_ENST00000609950.1_RNA|AC008067.2_ENST00000430876.1_RNA|CTNNA2_ENST00000402739.4_Missense_Mutation_p.Q800R|CTNNA2_ENST00000541047.1_Missense_Mutation_p.Q800R|CTNNA2_ENST00000496558.1_Missense_Mutation_p.Q800R|CTNNA2_ENST00000361291.4_Missense_Mutation_p.Q834R			P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	800					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						GCAGAAGTGCAGAATCTGGGA	0.468													7	69					0	0	1	0	0	G	80835412	A	G	80835412	3	3	433	1	0	0	0	0	1	0	0	0	4037	188	7	3	2253	3	CTNNA2	2	80835412	Missense_Mutation	SNP	A	TCGA-S9-A6WO-01A-21D-A34A-08	9037679	80835412	162363961	5	34954											
CASP8	841	broad.mit.edu	37	2	202136285	202136285	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A6WO-01A-21D-A34A-08	TCGA-S9-A6WO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2180fc91-787b-4cb2-b55d-94d2657a5e96	30163d6a-a79d-4c5d-9b0d-6de0eae88352	g.chr2:202136285A>G	ENST00000358485.4	+	3	725	c.529A>G	c.(529-531)Agg>Ggg	p.R177G	CASP8_ENST00000432109.2_Missense_Mutation_p.R118G|CASP8_ENST00000392266.3_Missense_Mutation_p.R118G|CASP8_ENST00000392259.2_Missense_Mutation_p.R118G|CASP8_ENST00000392258.3_Missense_Mutation_p.R118G|CASP8_ENST00000323492.7_Missense_Mutation_p.R118G|CASP8_ENST00000264275.5_Missense_Mutation_p.R150G|CASP8_ENST00000264274.9_Missense_Mutation_p.R118G	NM_001080125.1	NP_001073594.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	118	DED 2.				activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding			breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						ATCAGAATTGAGGTCTTTTAA	0.388										HNSCC(4;0.00038)			11	60					0	0	1	0	0	G	202136285	A	G	202136285	3	3	433	1	0	0	0	0	1	0	0	0	2695	295	11	3	639	3	CASP8	2	202136285	Missense_Mutation	SNP	A	TCGA-S9-A6WO-01A-21D-A34A-08	121300873	202136285	41063088	6	34955											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-S9-A6WO-01A-21D-A34A-08	TCGA-S9-A6WO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2180fc91-787b-4cb2-b55d-94d2657a5e96	30163d6a-a79d-4c5d-9b0d-6de0eae88352	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	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								49	63					0	0	1	0	0	T	209113112	C	T	209113112	3	4	433	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-S9-A6WO-01A-21D-A34A-08	6976827	209113112	34086261	7	34956											
HGD	3081	broad.mit.edu	37	3	120360529	120360529	+	Silent	SNP	C	C	T			TCGA-S9-A6WO-01A-21D-A34A-08	TCGA-S9-A6WO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2180fc91-787b-4cb2-b55d-94d2657a5e96	30163d6a-a79d-4c5d-9b0d-6de0eae88352	g.chr3:120360529C>T	ENST00000283871.5	-	11	1245	c.786G>A	c.(784-786)ccG>ccA	p.P262P		NM_000187.3	NP_000178.2	Q93099	HGD_HUMAN	homogentisate 1,2-dioxygenase	262					L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	homogentisate 1,2-dioxygenase activity|metal ion binding			cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)	25				GBM - Glioblastoma multiforme(114;0.158)		CAACATTGAACGGGGAGACAT	0.418													6	109					0	0	1	0	0	T	120360529	C	T	120360529	2	4	433	1	0	0	0	0	0	0	0	1	7125	523	19	1		1	HGD	3	120360529	Silent	SNP	C	TCGA-S9-A6WO-01A-21D-A34A-08		120360529	77661901	8	34957											
MMRN1	22915	broad.mit.edu	37	4	90857200	90857200	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A6WO-01A-21D-A34A-08	TCGA-S9-A6WO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2180fc91-787b-4cb2-b55d-94d2657a5e96	30163d6a-a79d-4c5d-9b0d-6de0eae88352	g.chr4:90857200T>C	ENST00000394980.1	+	7	2688	c.2369T>C	c.(2368-2370)gTc>gCc	p.V790A	MMRN1_ENST00000264790.2_Missense_Mutation_p.V790A|MMRN1_ENST00000508372.1_Missense_Mutation_p.V532A|MMRN1_ENST00000394981.1_Intron			Q13201	MMRN1_HUMAN	multimerin 1	790					cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		CAGACTTTGGTCAATGACAAT	0.378													3	70					0	0	1	0	0	C	90857200	T	C	90857200	3	2	433	1	0	0	0	0	1	0	0	0	9719	1667	58	3	2391	3	MMRN1	4	90857200	Missense_Mutation	SNP	T	TCGA-S9-A6WO-01A-21D-A34A-08		90857200	100297076	9	34958											
LEF1	51176	broad.mit.edu	37	4	108985490	108985490	+	Splice_Site	SNP	A	A	G			TCGA-S9-A6WO-01A-21D-A34A-08	TCGA-S9-A6WO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2180fc91-787b-4cb2-b55d-94d2657a5e96	30163d6a-a79d-4c5d-9b0d-6de0eae88352	g.chr4:108985490A>G	ENST00000379951.2	-	9	2270		c.e9+1		LEF1_ENST00000438313.2_Splice_Site|LEF1_ENST00000503879.1_Splice_Site|LEF1_ENST00000510624.1_Splice_Site|LEF1_ENST00000265165.1_Splice_Site	NM_001130713.2|NM_001130714.2	NP_001124185.1|NP_001124186.1	Q9UJU2	LEF1_HUMAN	lymphoid enhancer-binding factor 1						canonical Wnt receptor signaling pathway|cell chemotaxis|cellular response to interleukin-4|epithelial to mesenchymal transition|histone H3 acetylation|histone H4 acetylation|negative regulation of apoptosis in bone marrow|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell-cell adhesion|negative regulation of DNA binding|negative regulation of estrogen receptor binding|negative regulation of interleukin-13 production|negative regulation of interleukin-4 production|negative regulation of interleukin-5 production|negative regulation of transcription, DNA-dependent|neutrophil differentiation|osteoblast differentiation|palate development|positive regulation by host of viral transcription|positive regulation of cell cycle process|positive regulation of cell growth|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of cell proliferation in bone marrow|positive regulation of cell-cell adhesion|positive regulation of epithelial to mesenchymal transition|positive regulation of granulocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|T-helper 1 cell differentiation	cytoplasm|protein-DNA complex|transcription factor complex	armadillo repeat domain binding|beta-catenin binding|C2H2 zinc finger domain binding|caspase inhibitor activity|DNA bending activity|enhancer binding|estrogen receptor activity|estrogen receptor binding|gamma-catenin binding|histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1)	25				OV - Ovarian serous cystadenocarcinoma(123;0.000224)		CATGGTGCCTACCTGATGCAG	0.433													18	64					0	0	1	0	0	G	108985490	A	G	108985490	5	3	433	1	0	0	0	0	0	0	1	0	8753	405	14	3	124	3	LEF1	4	108985490	Splice_Site	SNP	A	TCGA-S9-A6WO-01A-21D-A34A-08	18128290	108985490	82168786	10	34959											
NR3C2	4306	broad.mit.edu	37	4	149075788	149075788	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A6WO-01A-21D-A34A-08	TCGA-S9-A6WO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2180fc91-787b-4cb2-b55d-94d2657a5e96	30163d6a-a79d-4c5d-9b0d-6de0eae88352	g.chr4:149075788T>C	ENST00000355292.3	-	5	2653	c.2291A>G	c.(2290-2292)gAt>gGt	p.D764G	NR3C2_ENST00000511528.1_Missense_Mutation_p.D764G|RP11-76G10.1_ENST00000514843.1_RNA|NR3C2_ENST00000358102.3_Missense_Mutation_p.D760G|NR3C2_ENST00000512865.1_Intron|NR3C2_ENST00000344721.4_Missense_Mutation_p.D760G|NR3C2_ENST00000503313.1_5'UTR			P08235	MCR_HUMAN	nuclear receptor subfamily 3, group C, member 2	760	Steroid-binding.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	endoplasmic reticulum membrane|nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421)	TTCGGCTGTATCTGGTTTTGA	0.488													4	130					0	0	1	0	0	C	149075788	T	C	149075788	3	2	433	1	0	0	0	0	1	0	0	0	10679	1435	50	3	695	3	NR3C2	4	149075788	Missense_Mutation	SNP	T	TCGA-S9-A6WO-01A-21D-A34A-08	40090298	149075788	42078488	11	34960											
SLCO4C1	353189	broad.mit.edu	37	5	101595961	101595961	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6WO-01A-21D-A34A-08	TCGA-S9-A6WO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2180fc91-787b-4cb2-b55d-94d2657a5e96	30163d6a-a79d-4c5d-9b0d-6de0eae88352	g.chr5:101595961C>T	ENST00000310954.6	-	6	1370	c.1084G>A	c.(1084-1086)Gtg>Atg	p.V362M		NM_180991.4	NP_851322.3	Q6ZQN7	SO4C1_HUMAN	solute carrier organic anion transporter family, member 4C1	362					cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		CCAAATTTCACATCTGCATTA	0.294													8	18					0	0	1	0	0	T	101595961	C	T	101595961	3	4	433	1	0	0	0	0	1	0	0	0	14785	478	17	2	1122	2	SLCO4C1	5	101595961	Missense_Mutation	SNP	C	TCGA-S9-A6WO-01A-21D-A34A-08		101595961	79319299	12	34961											
ZNF608	57507	broad.mit.edu	37	5	123980089	123980089	+	Missense_Mutation	SNP	T	T	A			TCGA-S9-A6WO-01A-21D-A34A-08	TCGA-S9-A6WO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2180fc91-787b-4cb2-b55d-94d2657a5e96	30163d6a-a79d-4c5d-9b0d-6de0eae88352	g.chr5:123980089T>A	ENST00000306315.5	-	5	4406	c.3971A>T	c.(3970-3972)gAc>gTc	p.D1324V	ZNF608_ENST00000504926.1_Missense_Mutation_p.D897V	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	1324						intracellular	zinc ion binding			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		TCCCCGAGAGTCCTTCCAGTT	0.478													6	142					0	0	1	0	0	A	123980089	T	A	123980089	3	1	433	1	0	0	0	0	1	0	0	0	18091	1667	58	5	587	5	ZNF608	5	123980089	Missense_Mutation	SNP	T	TCGA-S9-A6WO-01A-21D-A34A-08	22384128	123980089	56935171	13	34962											
HIST1H1D	3007	broad.mit.edu	37	6	26234906	26234906	+	Nonsense_Mutation	SNP	T	T	A			TCGA-S9-A6WO-01A-21D-A34A-08	TCGA-S9-A6WO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2180fc91-787b-4cb2-b55d-94d2657a5e96	30163d6a-a79d-4c5d-9b0d-6de0eae88352	g.chr6:26234906T>A	ENST00000244534.5	-	1	310	c.256A>T	c.(256-258)Aag>Tag	p.K86*		NM_005320.2	NP_005311.1	P16402	H13_HUMAN	histone cluster 1, H1d	86	H15.				nucleosome assembly	nucleosome|nucleus	DNA binding			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23		all_hematologic(11;0.0945)|Acute lymphoblastic leukemia(11;0.167)				ACCAAGCTCTTGAGGCCAAGC	0.542													6	164					0	0	1	0	0	A	26234906	T	A	26234906	4	1	433	1	0	0	0	0	0	1	0	0	7166	1821	63	5	413	5	HIST1H1D	6	26234906	Nonsense_Mutation	SNP	T	TCGA-S9-A6WO-01A-21D-A34A-08		26234906	144880161	14	34963											
VIP	7432	broad.mit.edu	37	6	153076508	153076508	+	Splice_Site	SNP	G	G	C			TCGA-S9-A6WO-01A-21D-A34A-08	TCGA-S9-A6WO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2180fc91-787b-4cb2-b55d-94d2657a5e96	30163d6a-a79d-4c5d-9b0d-6de0eae88352	g.chr6:153076508G>C	ENST00000367244.3	+	4	507	c.335G>C	c.(334-336)aGc>aCc	p.S112T	VIP_ENST00000367243.3_Splice_Site_p.S112T	NM_003381.3	NP_003372.1	P01282	VIP_HUMAN	vasoactive intestinal peptide	112					body fluid secretion|G-protein coupled receptor protein signaling pathway|positive regulation of cell proliferation	extracellular region	neuropeptide hormone activity			haematopoietic_and_lymphoid_tissue(1)|lung(4)|skin(1)	6		Ovarian(120;0.0654)		OV - Ovarian serous cystadenocarcinoma(155;4.5e-11)|BRCA - Breast invasive adenocarcinoma(81;0.144)		AAACGTGTTAGGTAAAGAGaa	0.313													13	38					0	0	1	0	0	C	153076508	G	C	153076508	5	2	433	1	0	0	0	0	0	0	1	0	17227	1014	35	4	345	4	VIP	6	153076508	Splice_Site	SNP	G	TCGA-S9-A6WO-01A-21D-A34A-08	126841602	153076508	18038559	15	34964											
INTS1	26173	broad.mit.edu	37	7	1516294	1516294	+	Splice_Site	SNP	C	C	G			TCGA-S9-A6WO-01A-21D-A34A-08	TCGA-S9-A6WO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2180fc91-787b-4cb2-b55d-94d2657a5e96	30163d6a-a79d-4c5d-9b0d-6de0eae88352	g.chr7:1516294C>G	ENST00000389470.4	-	38	5660		c.e38-1		INTS1_ENST00000404767.3_Splice_Site			Q8N201	INT1_HUMAN	integrator complex subunit 1						snRNA processing	integral to membrane|integrator complex|nuclear membrane				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		GGGGTCGAACCTGTGGGGAGG	0.627													17	57					0	0	1	0	0	G	1516294	C	G	1516294	5	3	433	1	0	0	0	0	0	0	1	0	7819	695	24	4	1557	4	INTS1	7	1516294	Splice_Site	SNP	C	TCGA-S9-A6WO-01A-21D-A34A-08		1516294	157622369	16	34965											
CARD11	84433	broad.mit.edu	37	7	2983876	2983876	+	Silent	SNP	C	C	T	rs113957419		TCGA-S9-A6WO-01A-21D-A34A-08	TCGA-S9-A6WO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2180fc91-787b-4cb2-b55d-94d2657a5e96	30163d6a-a79d-4c5d-9b0d-6de0eae88352	g.chr7:2983876C>T	ENST00000396946.4	-	5	1057	c.654G>A	c.(652-654)gcG>gcA	p.A218A	AC004906.3_ENST00000423194.1_RNA	NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	218					positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		TCCTCATGACCGCCATGTTCT	0.572			Mis		DLBCL								19	42					0	0	1	0	0	T	2983876	C	T	2983876	2	4	433	1	0	0	0	0	0	0	0	1	2663	639	23	1		1	CARD11	7	2983876	Silent	SNP	C	TCGA-S9-A6WO-01A-21D-A34A-08	1467582	2983876	156154787	17	34966											
SH2B2	10603	broad.mit.edu	37	7	101960850	101960850	+	Nonsense_Mutation	SNP	G	G	A			TCGA-S9-A6WO-01A-21D-A34A-08	TCGA-S9-A6WO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2180fc91-787b-4cb2-b55d-94d2657a5e96	30163d6a-a79d-4c5d-9b0d-6de0eae88352	g.chr7:101960850G>A	ENST00000536178.1	+	9	1610	c.1565G>A	c.(1564-1566)tGg>tAg	p.W522*	SH2B2_ENST00000306803.8_Nonsense_Mutation_p.W482*			O14492	SH2B2_HUMAN	SH2B adaptor protein 2	483					blood coagulation|insulin receptor signaling pathway|intracellular signal transduction	cytosol|plasma membrane	JAK pathway signal transduction adaptor activity|SH3/SH2 adaptor activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)	9						CAGCATCTGTGGTTCCAGTCT	0.647													11	144					0	0	1	0	0	A	101960850	G	A	101960850	4	1	433	1	0	0	0	0	0	1	0	0	14282	1357	47	2	1339	2	SH2B2	7	101960850	Nonsense_Mutation	SNP	G	TCGA-S9-A6WO-01A-21D-A34A-08	98976974	101960850	57177813	18	34967											
ATP6V0A4	50617	broad.mit.edu	37	7	138444521	138444521	+	Silent	SNP	G	G	A			TCGA-S9-A6WO-01A-21D-A34A-08	TCGA-S9-A6WO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2180fc91-787b-4cb2-b55d-94d2657a5e96	30163d6a-a79d-4c5d-9b0d-6de0eae88352	g.chr7:138444521G>A	ENST00000310018.2	-	8	897	c.615C>T	c.(613-615)gaC>gaT	p.D205D	ATP6V0A4_ENST00000353492.4_Silent_p.D205D|ATP6V0A4_ENST00000393054.1_Silent_p.D205D	NM_020632.2|NM_130840.2	NP_065683.2|NP_570855.2	Q9HBG4	VPP4_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a4	205					cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport	apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						CCAGAGGGGCGTCCATCTCAC	0.532													4	65					0	0	1	0	0	A	138444521	G	A	138444521	2	1	433	1	0	0	0	0	0	0	0	1	1168	1136	40	1		1	ATP6V0A4	7	138444521	Silent	SNP	G	TCGA-S9-A6WO-01A-21D-A34A-08	36483671	138444521	20694142	19	34968											
PAXIP1	22976	broad.mit.edu	37	7	154767623	154767623	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A6WO-01A-21D-A34A-08	TCGA-S9-A6WO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2180fc91-787b-4cb2-b55d-94d2657a5e96	30163d6a-a79d-4c5d-9b0d-6de0eae88352	g.chr7:154767623T>C	ENST00000404141.1	-	6	1011	c.857A>G	c.(856-858)gAg>gGg	p.E286G	PAXIP1_ENST00000397192.1_Missense_Mutation_p.E286G|PAXIP1_ENST00000473219.1_5'UTR			Q6ZW49	PAXI1_HUMAN	PAX interacting (with transcription-activation domain) protein 1	286					DNA damage response, signal transduction by p53 class mediator|DNA recombination|DNA repair|histone H3-K4 methylation|positive regulation of histone acetylation|positive regulation of histone H3-K36 methylation|positive regulation of histone H3-K4 methylation|positive regulation of isotype switching|positive regulation of protein ubiquitination|positive regulation of transcription initiation from RNA polymerase II promoter|response to ionizing radiation|transcription, DNA-dependent	histone methyltransferase complex|nuclear matrix				NS(1)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	33	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0296)	UCEC - Uterine corpus endometrioid carcinoma (81;0.178)		CAACCCAGGCTCCTTTCCCTG	0.522													3	44					0	0	1	0	0	C	154767623	T	C	154767623	3	2	433	1	0	0	0	0	1	0	0	0	11534	1551	54	3	2416	3	PAXIP1	7	154767623	Missense_Mutation	SNP	T	TCGA-S9-A6WO-01A-21D-A34A-08	16323102	154767623	4371040	20	34969											
RP1	6101	broad.mit.edu	37	8	55540532	55540532	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A6WO-01A-21D-A34A-08	TCGA-S9-A6WO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2180fc91-787b-4cb2-b55d-94d2657a5e96	30163d6a-a79d-4c5d-9b0d-6de0eae88352	g.chr8:55540532A>G	ENST00000220676.1	+	4	4238	c.4090A>G	c.(4090-4092)Aga>Gga	p.R1364G		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1364					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			AGAGTTAGAAAGAGGTGATGA	0.323													4	77					0	0	1	0	0	G	55540532	A	G	55540532	3	3	433	1	0	0	0	0	1	0	0	0	13584	64	3	3	4100	3	RP1	8	55540532	Missense_Mutation	SNP	A	TCGA-S9-A6WO-01A-21D-A34A-08		55540532	90823490	21	34970											
RIPK2	8767	broad.mit.edu	37	8	90782109	90782109	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A6WO-01A-21D-A34A-08	TCGA-S9-A6WO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2180fc91-787b-4cb2-b55d-94d2657a5e96	30163d6a-a79d-4c5d-9b0d-6de0eae88352	g.chr8:90782109A>G	ENST00000220751.4	+	4	907	c.593A>G	c.(592-594)tAt>tGt	p.Y198C	RIPK2_ENST00000540020.1_Missense_Mutation_p.Y61C	NM_003821.5	NP_003812.1	O43353	RIPK2_HUMAN	receptor-interacting serine-threonine kinase 2	198	Protein kinase.				activation of MAPK activity|anti-apoptosis|apoptosis|inflammatory response|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein ubiquitination|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|CARD domain binding|LIM domain binding|protein homodimerization activity|protein serine/threonine kinase activity|signal transducer activity			kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)	10			BRCA - Breast invasive adenocarcinoma(11;0.0474)			CCTGAAAACTATGAACCTGGA	0.408													6	226					0	0	1	0	0	G	90782109	A	G	90782109	3	3	433	1	0	0	0	0	1	0	0	0	13433	449	16	3	607	3	RIPK2	8	90782109	Missense_Mutation	SNP	A	TCGA-S9-A6WO-01A-21D-A34A-08	35241577	90782109	55581913	22	34971											
ASS1	445	broad.mit.edu	37	9	133364801	133364801	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6WO-01A-21D-A34A-08	TCGA-S9-A6WO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2180fc91-787b-4cb2-b55d-94d2657a5e96	30163d6a-a79d-4c5d-9b0d-6de0eae88352	g.chr9:133364801G>A	ENST00000372394.1	+	13	1401	c.920G>A	c.(919-921)cGc>cAc	p.R307H	ASS1_ENST00000352480.5_Missense_Mutation_p.R307H|ASS1_ENST00000372393.3_Missense_Mutation_p.R307H			P00966	ASSY_HUMAN	argininosuccinate synthase 1	307			R -> C (in CTLN1).		arginine biosynthetic process|urea cycle	cytosol	argininosuccinate synthase activity|ATP binding|protein binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	17				OV - Ovarian serous cystadenocarcinoma(145;0.000514)	Adenosine triphosphate(DB00171)|L-Arginine(DB00125)|L-Aspartic Acid(DB00128)|L-Citrulline(DB00155)	CGGGAAGTGCGCAAAATCAAA	0.532													4	210					0	0	1	0	0	A	133364801	G	A	133364801	3	1	433	1	0	0	0	0	1	0	0	0	1060	1087	38	1	962	1	ASS1	9	133364801	Missense_Mutation	SNP	G	TCGA-S9-A6WO-01A-21D-A34A-08		133364801	7848630	23	34972											
SEPHS1	22929	broad.mit.edu	37	10	13386920	13386920	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A6WO-01A-21D-A34A-08	TCGA-S9-A6WO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2180fc91-787b-4cb2-b55d-94d2657a5e96	30163d6a-a79d-4c5d-9b0d-6de0eae88352	g.chr10:13386920T>C	ENST00000327347.5	-	2	406	c.31A>G	c.(31-33)Agt>Ggt	p.S11G	SEPHS1_ENST00000378614.4_Missense_Mutation_p.S11G|SEPHS1_ENST00000494329.1_5'UTR|SEPHS1_ENST00000537130.1_Intron|SEPHS1_ENST00000545675.1_Missense_Mutation_p.S11G	NM_001195602.1|NM_012247.4	NP_001182531.1|NP_036379.2	P49903	SPS1_HUMAN	selenophosphate synthetase 1	11					protein modification process		ATP binding|GTP binding|selenide, water dikinase activity			cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|stomach(1)	16						AATTCGTAACTTTCCGGGTTA	0.542													7	158					0	0	1	0	0	C	13386920	T	C	13386920	3	2	433	1	0	0	0	0	1	0	0	0	14108	1609	56	3	1179	3	SEPHS1	10	13386920	Missense_Mutation	SNP	T	TCGA-S9-A6WO-01A-21D-A34A-08		13386920	122147827	24	34973											
ANKRD30A	91074	broad.mit.edu	37	10	37454040	37454040	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A6WO-01A-21D-A34A-08	TCGA-S9-A6WO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2180fc91-787b-4cb2-b55d-94d2657a5e96	30163d6a-a79d-4c5d-9b0d-6de0eae88352	g.chr10:37454040A>G	ENST00000374660.1	+	18	1952	c.1853A>G	c.(1852-1854)gAa>gGa	p.E618G	ANKRD30A_ENST00000602533.1_Missense_Mutation_p.E618G|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.E618G			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	674						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						CTCCCATCAGAATCCAAACAA	0.284													19	115					0	0	1	0	0	G	37454040	A	G	37454040	3	3	433	1	0	0	0	0	1	0	0	0	654	246	9	3	1923	3	ANKRD30A	10	37454040	Missense_Mutation	SNP	A	TCGA-S9-A6WO-01A-21D-A34A-08	24067120	37454040	98080707	25	34974											
IPMK	253430	broad.mit.edu	37	10	59956132	59956132	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6WO-01A-21D-A34A-08	TCGA-S9-A6WO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2180fc91-787b-4cb2-b55d-94d2657a5e96	30163d6a-a79d-4c5d-9b0d-6de0eae88352	g.chr10:59956132G>A	ENST00000373935.3	-	6	1278	c.956C>T	c.(955-957)gCg>gTg	p.A319V		NM_152230.4	NP_689416.1	Q8NFU5	IPMK_HUMAN	inositol polyphosphate multikinase	319						nucleus	ATP binding|inositol trisphosphate 6-kinase activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)	22						CCTGTGACGCGCATACATCTT	0.378													5	173					0	0	1	0	0	A	59956132	G	A	59956132	3	1	433	1	0	0	0	0	1	0	0	0	7836	1087	38	1	298	1	IPMK	10	59956132	Missense_Mutation	SNP	G	TCGA-S9-A6WO-01A-21D-A34A-08	22502092	59956132	75578615	26	34975											
TACC2	10579	broad.mit.edu	37	10	123847056	123847056	+	Missense_Mutation	SNP	C	C	A			TCGA-S9-A6WO-01A-21D-A34A-08	TCGA-S9-A6WO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2180fc91-787b-4cb2-b55d-94d2657a5e96	30163d6a-a79d-4c5d-9b0d-6de0eae88352	g.chr10:123847056C>A	ENST00000369005.1	+	4	5381	c.5041C>A	c.(5041-5043)Cct>Act	p.P1681T	TACC2_ENST00000515603.1_Missense_Mutation_p.P1681T|TACC2_ENST00000334433.3_Missense_Mutation_p.P1681T|TACC2_ENST00000453444.2_Missense_Mutation_p.P1681T|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000515273.1_Missense_Mutation_p.P1681T	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	1681						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				CCAGAGCACCCCTGCACCACC	0.622													7	40					0.0381472	0.0388284	1	1	0	A	123847056	C	A	123847056	3	1	433	1	0	0	0	0	1	0	0	0	15559	623	22	5	5051	5	TACC2	10	123847056	Missense_Mutation	SNP	C	TCGA-S9-A6WO-01A-21D-A34A-08	63890924	123847056	11687691	27	34976											
OR5J2	282775	broad.mit.edu	37	11	55944829	55944829	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A6WO-01A-21D-A34A-08	TCGA-S9-A6WO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2180fc91-787b-4cb2-b55d-94d2657a5e96	30163d6a-a79d-4c5d-9b0d-6de0eae88352	g.chr11:55944829A>G	ENST00000312298.1	+	1	736	c.736A>G	c.(736-738)Act>Gct	p.T246A		NM_001005492.1	NP_001005492.1	Q8NH18	OR5J2_HUMAN	olfactory receptor, family 5, subfamily J, member 2	246					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	44	Esophageal squamous(21;0.00693)					CTCTCACCTGACTGCTGTGAC	0.443													34	74					0	0	1	0	0	G	55944829	A	G	55944829	3	3	433	1	0	0	0	0	1	0	0	0	11212	275	10	3	738	3	OR5J2	11	55944829	Missense_Mutation	SNP	A	TCGA-S9-A6WO-01A-21D-A34A-08		55944829	79061687	28	34977											
OR5M3	219482	broad.mit.edu	37	11	56237368	56237368	+	Silent	SNP	G	G	C			TCGA-S9-A6WO-01A-21D-A34A-08	TCGA-S9-A6WO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2180fc91-787b-4cb2-b55d-94d2657a5e96	30163d6a-a79d-4c5d-9b0d-6de0eae88352	g.chr11:56237368G>C	ENST00000312240.2	-	1	646	c.606C>G	c.(604-606)ggC>ggG	p.G202G		NM_001004742.2	NP_001004742.2	Q8NGP4	OR5M3_HUMAN	olfactory receptor, family 5, subfamily M, member 3	202					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	37	Esophageal squamous(21;0.00448)					TGAAGTTAATGCCGGCAAGTA	0.418													32	103					0	0	1	0	0	C	56237368	G	C	56237368	2	2	433	1	0	0	0	0	0	0	0	1	11222	1306	46	5		5	OR5M3	11	56237368	Silent	SNP	G	TCGA-S9-A6WO-01A-21D-A34A-08	292539	56237368	78769148	29	34978											
PIH1D2	120379	broad.mit.edu	37	11	111941252	111941252	+	Missense_Mutation	SNP	G	G	T			TCGA-S9-A6WO-01A-21D-A34A-08	TCGA-S9-A6WO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2180fc91-787b-4cb2-b55d-94d2657a5e96	30163d6a-a79d-4c5d-9b0d-6de0eae88352	g.chr11:111941252G>T	ENST00000530641.1	-	5	1046	c.721C>A	c.(721-723)Cat>Aat	p.H241N	PIH1D2_ENST00000532211.1_Missense_Mutation_p.H241N|PIH1D2_ENST00000431456.1_Missense_Mutation_p.H241N|PIH1D2_ENST00000528775.1_Missense_Mutation_p.H241N|PIH1D2_ENST00000280350.4_Missense_Mutation_p.H241N			Q8WWB5	PIHD2_HUMAN	PIH1 domain containing 2	241										endometrium(2)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	11		all_cancers(61;1.09e-14)|all_epithelial(67;7.64e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;3.19e-07)|BRCA - Breast invasive adenocarcinoma(274;6.17e-07)|all cancers(92;6.18e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0508)		CTGTGATCATGCACAATTTTT	0.398													5	132					0.184627	0.184627	1	1	0	T	111941252	G	T	111941252	3	4	433	1	0	0	0	0	1	0	0	0	11955	1319	46	5	292	5	PIH1D2	11	111941252	Missense_Mutation	SNP	G	TCGA-S9-A6WO-01A-21D-A34A-08	55703884	111941252	23065264	30	34979											
KRT3	3850	broad.mit.edu	37	12	53185104	53185104	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6WO-01A-21D-A34A-08	TCGA-S9-A6WO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2180fc91-787b-4cb2-b55d-94d2657a5e96	30163d6a-a79d-4c5d-9b0d-6de0eae88352	g.chr12:53185104G>A	ENST00000417996.2	-	7	1495	c.1421C>T	c.(1420-1422)gCg>gTg	p.A474V	KRT3_ENST00000309505.3_Missense_Mutation_p.A474V	NM_057088.2	NP_476429.2	P12035	K2C3_HUMAN	keratin 3	474	Coil 2.|Rod.				epithelial cell differentiation|intermediate filament cytoskeleton organization	keratin filament	structural molecule activity			NS(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|skin(1)	23						GTCATCCTTCGCCTGCTGTAG	0.612													5	102					0	0	1	0	0	A	53185104	G	A	53185104	3	1	433	1	0	0	0	0	1	0	0	0	8509	1087	38	1	477	1	KRT3	12	53185104	Missense_Mutation	SNP	G	TCGA-S9-A6WO-01A-21D-A34A-08		53185104	80666791	31	34980											
DNAH10	196385	broad.mit.edu	37	12	124364299	124364299	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6WO-01A-21D-A34A-08	TCGA-S9-A6WO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2180fc91-787b-4cb2-b55d-94d2657a5e96	30163d6a-a79d-4c5d-9b0d-6de0eae88352	g.chr12:124364299G>A	ENST00000409039.3	+	49	8256	c.8231G>A	c.(8230-8232)cGc>cAc	p.R2744H		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	2744					microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.R2744H(1)|p.R1336H(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GGAGAACCACGCATTTATGAA	0.532													5	250					0	0	1	0	0	A	124364299	G	A	124364299	3	1	433	1	0	0	0	0	1	0	0	0	4626	1087	38	1	8425	1	DNAH10	12	124364299	Missense_Mutation	SNP	G	TCGA-S9-A6WO-01A-21D-A34A-08	71179195	124364299	9487596	32	34981											
MYH7	4625	broad.mit.edu	37	14	23886516	23886516	+	Silent	SNP	C	C	T			TCGA-S9-A6WO-01A-21D-A34A-08	TCGA-S9-A6WO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2180fc91-787b-4cb2-b55d-94d2657a5e96	30163d6a-a79d-4c5d-9b0d-6de0eae88352	g.chr14:23886516C>T	ENST00000355349.3	-	32	4527	c.4365G>A	c.(4363-4365)gaG>gaA	p.E1455E		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1455					adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		TCTGCTTCCACTCGGCCAGGA	0.622													7	81					0	0	1	0	0	T	23886516	C	T	23886516	2	4	433	1	0	0	0	0	0	0	0	1	10087	564	20	2		2	MYH7	14	23886516	Silent	SNP	C	TCGA-S9-A6WO-01A-21D-A34A-08		23886516	83463024	33	34982											
RFX7	64864	broad.mit.edu	37	15	56390461	56390461	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6WO-01A-21D-A34A-08	TCGA-S9-A6WO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2180fc91-787b-4cb2-b55d-94d2657a5e96	30163d6a-a79d-4c5d-9b0d-6de0eae88352	g.chr15:56390461G>A	ENST00000423270.1	-	8	924	c.925C>T	c.(925-927)Cgg>Tgg	p.R309W	RFX7_ENST00000422057.1_Missense_Mutation_p.R212W|RFX7_ENST00000317318.6_Missense_Mutation_p.R309W|RFX7_ENST00000559447.2_Missense_Mutation_p.R212W	NM_022841.5	NP_073752.5	Q2KHR2	RFX7_HUMAN	regulatory factor X, 7	212					regulation of transcription, DNA-dependent	nucleus	DNA binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						TGGATTTTCCGTTGCAACTGC	0.438													17	27					0	0	1	0	0	A	56390461	G	A	56390461	3	1	433	1	0	0	0	0	1	0	0	0	13320	1144	40	1	3465	1	RFX7	15	56390461	Missense_Mutation	SNP	G	TCGA-S9-A6WO-01A-21D-A34A-08		56390461	46140931	34	34983											
GCNT3	9245	broad.mit.edu	37	15	59911450	59911450	+	Missense_Mutation	SNP	G	G	A	rs142393489		TCGA-S9-A6WO-01A-21D-A34A-08	TCGA-S9-A6WO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2180fc91-787b-4cb2-b55d-94d2657a5e96	30163d6a-a79d-4c5d-9b0d-6de0eae88352	g.chr15:59911450G>A	ENST00000396065.1	+	3	1461	c.1013G>A	c.(1012-1014)cGt>cAt	p.R338H	GCNT3_ENST00000560585.1_Missense_Mutation_p.R338H	NM_004751.2	NP_004742.1	O95395	GCNT3_HUMAN	glucosaminyl (N-acetyl) transferase 3, mucin type	338					protein O-linked glycosylation	Golgi membrane|integral to membrane|membrane fraction	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity			central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						ACCCTTCAGCGTGCACGGTGG	0.507													11	139					0	0	1	0	0	A	59911450	G	A	59911450	3	1	433	1	0	0	0	0	1	0	0	0	6342	1145	40	1	1015	1	GCNT3	15	59911450	Missense_Mutation	SNP	G	TCGA-S9-A6WO-01A-21D-A34A-08	3520989	59911450	42619942	35	34984											
IL16	3603	broad.mit.edu	37	15	81558108	81558108	+	Missense_Mutation	SNP	C	C	G			TCGA-S9-A6WO-01A-21D-A34A-08	TCGA-S9-A6WO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2180fc91-787b-4cb2-b55d-94d2657a5e96	30163d6a-a79d-4c5d-9b0d-6de0eae88352	g.chr15:81558108C>G	ENST00000394660.2	+	4	890	c.530C>G	c.(529-531)tCt>tGt	p.S177C	IL16_ENST00000302987.4_Missense_Mutation_p.S177C	NM_001172128.1|NM_172217.3	NP_001165599.1|NP_757366.2	Q14005	IL16_HUMAN	interleukin 16	177					immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						AAGTCCCTCTCTCAACAATTG	0.512											OREG0023362	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	44					0	0	1	0	0	G	81558108	C	G	81558108	3	3	433	1	0	0	0	0	1	0	0	0	7677	913	32	4	540	4	IL16	15	81558108	Missense_Mutation	SNP	C	TCGA-S9-A6WO-01A-21D-A34A-08	21646658	81558108	20973284	36	34985											
PDP2	57546	broad.mit.edu	37	16	66919758	66919758	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6WO-01A-21D-A34A-08	TCGA-S9-A6WO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2180fc91-787b-4cb2-b55d-94d2657a5e96	30163d6a-a79d-4c5d-9b0d-6de0eae88352	g.chr16:66919758C>T	ENST00000311765.2	+	2	1905	c.1571C>T	c.(1570-1572)gCa>gTa	p.A524V	PDP2_ENST00000568720.1_Intron	NM_020786.2	NP_065837.1	Q9P2J9	PDP2_HUMAN	pyruvate dehyrogenase phosphatase catalytic subunit 2	524					pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix|protein serine/threonine phosphatase complex	[pyruvate dehydrogenase (lipoamide)] phosphatase activity|metal ion binding			kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	12		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.088)|Epithelial(162;0.204)		TCAATCGGTGCATATTACAAG	0.438													19	80					0	0	1	0	0	T	66919758	C	T	66919758	3	4	433	1	0	0	0	0	1	0	0	0	11733	710	25	2	1573	2	PDP2	16	66919758	Missense_Mutation	SNP	C	TCGA-S9-A6WO-01A-21D-A34A-08		66919758	23434995	37	34986											
TP53	7157	broad.mit.edu	37	17	7579415	7579415	+	Nonsense_Mutation	SNP	C	C	T			TCGA-S9-A6WO-01A-21D-A34A-08	TCGA-S9-A6WO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2180fc91-787b-4cb2-b55d-94d2657a5e96	30163d6a-a79d-4c5d-9b0d-6de0eae88352	g.chr17:7579415C>T	ENST00000420246.2	-	4	404	c.272G>A	c.(271-273)tGg>tAg	p.W91*	TP53_ENST00000455263.2_Nonsense_Mutation_p.W91*|TP53_ENST00000445888.2_Nonsense_Mutation_p.W91*|TP53_ENST00000269305.4_Nonsense_Mutation_p.W91*|TP53_ENST00000359597.4_Nonsense_Mutation_p.W91*|TP53_ENST00000413465.2_Nonsense_Mutation_p.W91*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	91	Interaction with WWOX.		W -> C (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.0?(8)|p.W91*(7)|p.G59fs*23(3)|p.V73fs*9(1)|p.D48fs*55(1)|p.A88fs*52(1)|p.W91fs*13(1)|p.P87fs*54(1)|p.P13fs*18(1)|p.S33fs*23(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)		TGACAGGGGCCAGGAGGGGGC	0.632		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)			84	14					0	0	1	0	0	T	7579415	C	T	7579415	4	4	433	1	0	0	0	0	0	1	0	0	16442	595	21	2	1030	2	TP53	17	7579415	Nonsense_Mutation	SNP	C	TCGA-S9-A6WO-01A-21D-A34A-08		7579415	73615795	38	34987											
ZNF287	57336	broad.mit.edu	37	17	16466534	16466534	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A6WO-01A-21D-A34A-08	TCGA-S9-A6WO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2180fc91-787b-4cb2-b55d-94d2657a5e96	30163d6a-a79d-4c5d-9b0d-6de0eae88352	g.chr17:16466534T>C	ENST00000395824.1	-	5	1258	c.641A>G	c.(640-642)tAc>tGc	p.Y214C	ZNF287_ENST00000395825.3_Missense_Mutation_p.Y214C			Q9HBT7	ZN287_HUMAN	zinc finger protein 287	207	KRAB.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|prostate(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (92;0.083)		AGTTGGTCTGTACACTGTAAG	0.393													5	100					0	0	1	0	0	C	16466534	T	C	16466534	3	2	433	1	0	0	0	0	1	0	0	0	17882	1638	57	3	1652	3	ZNF287	17	16466534	Missense_Mutation	SNP	T	TCGA-S9-A6WO-01A-21D-A34A-08	8887119	16466534	64728676	39	34988											
CDH19	28513	broad.mit.edu	37	18	64176405	64176405	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A6WO-01A-21D-A34A-08	TCGA-S9-A6WO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2180fc91-787b-4cb2-b55d-94d2657a5e96	30163d6a-a79d-4c5d-9b0d-6de0eae88352	g.chr18:64176405A>G	ENST00000262150.2	-	11	1947	c.1655T>C	c.(1654-1656)aTt>aCt	p.I552T	CDH19_ENST00000540086.1_Intron	NM_021153.3	NP_066976.1	Q9H159	CAD19_HUMAN	cadherin 19, type 2	552	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61		Esophageal squamous(42;0.0132)				ATTGTCGGCAATTAAGATGGA	0.428													27	84					0	0	1	0	0	G	64176405	A	G	64176405	3	3	433	1	0	0	0	0	1	0	0	0	3126	101	4	3	671	3	CDH19	18	64176405	Missense_Mutation	SNP	A	TCGA-S9-A6WO-01A-21D-A34A-08		64176405	13900843	40	34989											
FBXO27	126433	broad.mit.edu	37	19	39517588	39517588	+	Silent	SNP	G	G	A			TCGA-S9-A6WO-01A-21D-A34A-08	TCGA-S9-A6WO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2180fc91-787b-4cb2-b55d-94d2657a5e96	30163d6a-a79d-4c5d-9b0d-6de0eae88352	g.chr19:39517588G>A	ENST00000292853.4	-	5	749	c.630C>T	c.(628-630)gaC>gaT	p.D210D	FBXO27_ENST00000509137.2_Silent_p.D210D|FBXO27_ENST00000600828.1_Silent_p.D209D	NM_178820.3	NP_849142.1	Q8NI29	FBX27_HUMAN	F-box protein 27	210	FBA.				protein catabolic process	SCF ubiquitin ligase complex	glycoprotein binding			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|ovary(1)|urinary_tract(2)	17	all_cancers(60;3.79e-07)|all_lung(34;1.26e-07)|Lung NSC(34;1.46e-07)|all_epithelial(25;4.69e-07)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			TCTGGTTGGCGTCTAGAAGTT	0.562													6	139					0	0	1	0	0	A	39517588	G	A	39517588	2	1	433	1	0	0	0	0	0	0	0	1	5770	1136	40	1		1	FBXO27	19	39517588	Silent	SNP	G	TCGA-S9-A6WO-01A-21D-A34A-08		39517588	19611395	41	34990											
BRWD1	54014	broad.mit.edu	37	21	40570809	40570809	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A6WO-01A-21D-A34A-08	TCGA-S9-A6WO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2180fc91-787b-4cb2-b55d-94d2657a5e96	30163d6a-a79d-4c5d-9b0d-6de0eae88352	g.chr21:40570809T>C	ENST00000342449.3	-	40	5611	c.5533A>G	c.(5533-5535)Att>Gtt	p.I1845V	BRWD1_ENST00000380800.3_Missense_Mutation_p.I1845V|BRWD1_ENST00000333229.2_Missense_Mutation_p.I1845V	NM_033656.3	NP_387505.1	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	1845					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				TTTCCTGAAATTGGGTTCATT	0.358													5	143					0	0	1	0	0	C	40570809	T	C	40570809	3	2	433	1	0	0	0	0	1	0	0	0	1527	1493	52	3	1680	3	BRWD1	21	40570809	Missense_Mutation	SNP	T	TCGA-S9-A6WO-01A-21D-A34A-08		40570809	7559086	42	34991											
ATRX	546	broad.mit.edu	37	X	76938678	76938679	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-S9-A6WO-01A-21D-A34A-08	TCGA-S9-A6WO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2180fc91-787b-4cb2-b55d-94d2657a5e96	30163d6a-a79d-4c5d-9b0d-6de0eae88352	g.chrX:76938678_76938679delTT	ENST00000373344.5	-	9	2283_2284	c.2069_2070delAA	c.(2068-2070)aaafs	p.K690fs	ATRX_ENST00000395603.3_Frame_Shift_Del_p.K652fs|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	690					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)	GAACTGATAGTTTTTGTTTCTC	0.371			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						128	99	---	---	---	---						-	76938679	TT	-	76938678	7	5	433	1	0	1	0	1	0	0	0	0	1206	1722	60	0	5516	0	ATRX	23	76938678	Frame_Shift_Del	DEL	TT	TCGA-S9-A6WO-01A-21D-A34A-08		76938678	78331882	43	34992											
ATRX	546	broad.mit.edu	37	X	76939959	76939959	+	Nonsense_Mutation	SNP	C	C	T			TCGA-S9-A6WO-01A-21D-A34A-08	TCGA-S9-A6WO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2180fc91-787b-4cb2-b55d-94d2657a5e96	30163d6a-a79d-4c5d-9b0d-6de0eae88352	g.chrX:76939959C>T	ENST00000373344.5	-	9	1003	c.789G>A	c.(787-789)tgG>tgA	p.W263*	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Nonsense_Mutation_p.W225*	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	263	ADD.				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.W263*(1)|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)	TGTAGCAATACCATTGGTTGT	0.393			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						16	173					0	0	1	0	0	T	76939959	C	T	76939959	4	4	433	1	0	0	0	0	0	1	0	0	1206	508	18	2	6797	2	ATRX	23	76939959	Nonsense_Mutation	SNP	C	TCGA-S9-A6WO-01A-21D-A34A-08	1281	76939959	78330601	44	34993											
DACH2	117154	broad.mit.edu	37	X	85404113	85404114	+	Splice_Site	DEL	GT	GT	-			TCGA-S9-A6WO-01A-21D-A34A-08	TCGA-S9-A6WO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2180fc91-787b-4cb2-b55d-94d2657a5e96	30163d6a-a79d-4c5d-9b0d-6de0eae88352	g.chrX:85404113_85404114delGT	ENST00000373131.1	+	1	651		c.e1+1		DACH2_ENST00000373125.4_Splice_Site	NM_001139514.1	NP_001132986.1	Q96NX9	DACH2_HUMAN	dachshund homolog 2 (Drosophila)						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|nucleotide binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						CCAATGCCAGGTGAGACACTCG	0.535													4	5	---	---	---	---						-	85404114	GT	-	85404113	8	5	433	1	0	1	0	1	0	0	1	0	4245	1275	44	0	491	0	DACH2	23	85404113	Splice_Site	DEL	GT	TCGA-S9-A6WO-01A-21D-A34A-08	8464154	85404113	69866447	45	34994											
ZMAT1	84460	broad.mit.edu	37	X	101138846	101138846	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A6WO-01A-21D-A34A-08	TCGA-S9-A6WO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2180fc91-787b-4cb2-b55d-94d2657a5e96	30163d6a-a79d-4c5d-9b0d-6de0eae88352	g.chrX:101138846T>C	ENST00000458570.1	-	9	2370	c.1040A>G	c.(1039-1041)tAc>tGc	p.Y347C	ZMAT1_ENST00000372782.3_Missense_Mutation_p.Y518C|ZMAT1_ENST00000540921.1_Missense_Mutation_p.Y518C|ZMAT1_ENST00000494068.1_5'UTR	NM_001282401.1	NP_001269330.1	A7MD47	A7MD47_HUMAN	zinc finger, matrin-type 1	347						nucleus	zinc ion binding			endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22						GAGGTGCTTGTAAACTTCAGA	0.413													4	48					0	0	1	0	0	C	101138846	T	C	101138846	3	2	433	1	0	0	0	0	1	0	0	0	17749	1638	57	3	367	3	ZMAT1	23	101138846	Missense_Mutation	SNP	T	TCGA-S9-A6WO-01A-21D-A34A-08	15734733	101138846	54131714	46	34995											
FUBP1	8880	broad.mit.edu	37	1	78428470	78428471	+	Frame_Shift_Del	DEL	TA	TA	-			TCGA-S9-A6WP-01A-12D-A34A-08	TCGA-S9-A6WP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4196c33-5da9-426e-ada5-67f9aee88b70	af25316b-1bef-4cc6-8f82-ffa3065bc7f3	g.chr1:78428470_78428471delTA	ENST00000370767.1	-	14	1415_1416	c.1328_1329delTA	c.(1327-1329)atafs	p.I443fs	FUBP1_ENST00000370768.2_Frame_Shift_Del_p.I443fs|FUBP1_ENST00000436586.2_Frame_Shift_Del_p.I464fs			Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1	443	KH 4.				transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						TCTTTTCTTCTATGAGTTGCCG	0.337			"F, N"		oligodendroglioma								44	17	---	---	---	---						-	78428471	TA	-	78428470	7	5	434	1	0	1	0	1	0	0	0	0	6127	1512	53	0	633	0	FUBP1	1	78428470	Frame_Shift_Del	DEL	TA	TCGA-S9-A6WP-01A-12D-A34A-08		78428470	170822151	1	34996											
SETDB1	9869	broad.mit.edu	37	1	150935061	150935062	+	Splice_Site	DEL	AG	AG	-			TCGA-S9-A6WP-01A-12D-A34A-08	TCGA-S9-A6WP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4196c33-5da9-426e-ada5-67f9aee88b70	af25316b-1bef-4cc6-8f82-ffa3065bc7f3	g.chr1:150935061_150935062delAG	ENST00000271640.5	+	18	3348		c.e18-1		SETDB1_ENST00000368969.4_Splice_Site	NM_001145415.1|NM_012432.3	NP_001138887.1|NP_036564.3	Q15047	SETB1_HUMAN	SET domain, bifurcated 1						regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|Golgi apparatus|nucleus|plasma membrane	DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding			NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)			CCCTCCCATTAGAGTTACTGAA	0.47													13	127	---	---	---	---						-	150935062	AG	-	150935061	8	5	434	1	0	1	0	1	0	0	1	0	14192	434	15	0	3223	0	SETDB1	1	150935061	Splice_Site	DEL	AG	TCGA-S9-A6WP-01A-12D-A34A-08	72506591	150935061	98315560	2	34997											
FAM78B	149297	broad.mit.edu	37	1	166039755	166039755	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6WP-01A-12D-A34A-08	TCGA-S9-A6WP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4196c33-5da9-426e-ada5-67f9aee88b70	af25316b-1bef-4cc6-8f82-ffa3065bc7f3	g.chr1:166039755G>A	ENST00000338353.3	-	3	1098	c.509C>T	c.(508-510)aCg>aTg	p.T170M	FAM78B_ENST00000354422.3_Missense_Mutation_p.T170M			Q5VT40	FA78B_HUMAN	family with sequence similarity 78, member B	170										central_nervous_system(1)|endometrium(5)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(923;0.0813)|Acute lymphoblastic leukemia(8;0.155)					CAGCCAGGTCGTGAAACTTTG	0.507													9	165					0	0	1	0	0	A	166039755	G	A	166039755	3	1	434	1	0	0	0	0	1	0	0	0	5659	1145	40	1	280	1	FAM78B	1	166039755	Missense_Mutation	SNP	G	TCGA-S9-A6WP-01A-12D-A34A-08	15104694	166039755	83210866	3	34998											
KCNT2	343450	broad.mit.edu	37	1	196227362	196227364	+	In_Frame_Del	DEL	TTT	TTT	-			TCGA-S9-A6WP-01A-12D-A34A-08	TCGA-S9-A6WP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4196c33-5da9-426e-ada5-67f9aee88b70	af25316b-1bef-4cc6-8f82-ffa3065bc7f3	g.chr1:196227362_196227364delTTT	ENST00000367433.5	-	25	3200_3202	c.3099_3101delAAA	c.(3097-3102)aaaaat>aat	p.K1033del	KCNT2_ENST00000294725.9_In_Frame_Del_p.K1057del|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000367431.4_In_Frame_Del_p.K991del|KCNT2_ENST00000609185.1_In_Frame_Del_p.K990del|KCNT2_ENST00000451324.2_3'UTR	NM_198503.2	NP_940905.2	Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	1057						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						TTTCATTCTATTTTTCACAAGTT	0.389													11	146	---	---	---	---						-	196227364	TTT	-	196227362	7	5	434	1	0	1	0	1	0	0	0	0	8136	1493	52	0	246	0	KCNT2	1	196227362	In_Frame_Del	DEL	TTT	TCGA-S9-A6WP-01A-12D-A34A-08	30187607	196227362	53023259	4	34999											
USH2A	7399	broad.mit.edu	37	1	215990472	215990472	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A6WP-01A-12D-A34A-08	TCGA-S9-A6WP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4196c33-5da9-426e-ada5-67f9aee88b70	af25316b-1bef-4cc6-8f82-ffa3065bc7f3	g.chr1:215990472A>G	ENST00000366943.2	-	48	9823	c.9437T>C	c.(9436-9438)cTa>cCa	p.L3146P	USH2A_ENST00000307340.3_Missense_Mutation_p.L3146P			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3146	Fibronectin type-III 18.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TGTTTTCCATAGGAGATCATA	0.413										HNSCC(13;0.011)			55	71					0	0	1	0	0	G	215990472	A	G	215990472	3	3	434	1	0	0	0	0	1	0	0	0	17096	420	15	3	6271	3	USH2A	1	215990472	Missense_Mutation	SNP	A	TCGA-S9-A6WP-01A-12D-A34A-08	19763110	215990472	33260149	5	35000											
SCN7A	6332	broad.mit.edu	37	2	167263066	167263066	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6WP-01A-12D-A34A-08	TCGA-S9-A6WP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4196c33-5da9-426e-ada5-67f9aee88b70	af25316b-1bef-4cc6-8f82-ffa3065bc7f3	g.chr2:167263066C>T	ENST00000409855.1	-	25	4199	c.4073G>A	c.(4072-4074)cGt>cAt	p.R1358H		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	1358					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						TTTTCCAAGACGCAGCATGTG	0.468													15	97					0	0	1	0	0	T	167263066	C	T	167263066	3	4	434	1	0	0	0	0	1	0	0	0	13977	536	19	1	979	1	SCN7A	2	167263066	Missense_Mutation	SNP	C	TCGA-S9-A6WP-01A-12D-A34A-08		167263066	75936307	6	35001											
MYO3B	140469	broad.mit.edu	37	2	171073874	171073874	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6WP-01A-12D-A34A-08	TCGA-S9-A6WP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4196c33-5da9-426e-ada5-67f9aee88b70	af25316b-1bef-4cc6-8f82-ffa3065bc7f3	g.chr2:171073874C>T	ENST00000334231.6	+	6	599	c.599C>T	c.(598-600)tCt>tTt	p.S200F	MYO3B_ENST00000408978.4_Missense_Mutation_p.S191F|MYO3B_ENST00000409044.3_Missense_Mutation_p.S191F|MYO3B_ENST00000602629.1_3'UTR			Q8WXR4	MYO3B_HUMAN	myosin IIIB	191	Protein kinase.				response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						AGAAACACATCTGTTGGCACC	0.448													9	294					0	0	1	0	0	T	171073874	C	T	171073874	3	4	434	1	0	0	0	0	1	0	0	0	10125	913	32	2	594	2	MYO3B	2	171073874	Missense_Mutation	SNP	C	TCGA-S9-A6WP-01A-12D-A34A-08	3810808	171073874	72125499	7	35002											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-S9-A6WP-01A-12D-A34A-08	TCGA-S9-A6WP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4196c33-5da9-426e-ada5-67f9aee88b70	af25316b-1bef-4cc6-8f82-ffa3065bc7f3	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	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								42	66					0	0	1	0	0	T	209113112	C	T	209113112	3	4	434	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-S9-A6WP-01A-12D-A34A-08	38039238	209113112	34086261	8	35003											
HDAC11	79885	broad.mit.edu	37	3	13538268	13538268	+	Frame_Shift_Del	DEL	C	C	-	rs149720388		TCGA-S9-A6WP-01A-12D-A34A-08	TCGA-S9-A6WP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4196c33-5da9-426e-ada5-67f9aee88b70	af25316b-1bef-4cc6-8f82-ffa3065bc7f3	g.chr3:13538268delC	ENST00000295757.3	+	4	468	c.285delC	c.(283-285)atcfs	p.I95fs	HDAC11_ENST00000402259.1_Intron|HDAC11_ENST00000404040.1_Intron|HDAC11_ENST00000437379.2_Frame_Shift_Del_p.I67fs|HDAC11_ENST00000405025.1_Intron|HDAC11_ENST00000402271.1_Intron|HDAC11_ENST00000404548.1_Intron|HDAC11_ENST00000522202.1_Intron|HDAC11_ENST00000446613.2_Intron|HDAC11_ENST00000433119.1_Frame_Shift_Del_p.I67fs	NM_024827.3	NP_079103.2	Q96DB2	HDA11_HUMAN	histone deacetylase 11	95	Histone deacetylase.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	histone deacetylase complex|plasma membrane	histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|transcription factor binding			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(4)|prostate(3)	13						TCACAGAAATCCCCCCCGTTA	0.577											OREG0015411	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	19	43	---	---	---	---						-	13538268	C	-	13538268	7	5	434	1	0	1	0	1	0	0	0	0	7047	845	30	0	299	0	HDAC11	3	13538268	Frame_Shift_Del	DEL	C	TCGA-S9-A6WP-01A-12D-A34A-08		13538268	184484162	9	35004											
VILL	50853	broad.mit.edu	37	3	38043319	38043319	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6WP-01A-12D-A34A-08	TCGA-S9-A6WP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4196c33-5da9-426e-ada5-67f9aee88b70	af25316b-1bef-4cc6-8f82-ffa3065bc7f3	g.chr3:38043319G>A	ENST00000283713.6	+	13	1713	c.1447G>A	c.(1447-1449)Gcc>Acc	p.A483T	VILL_ENST00000465644.1_Missense_Mutation_p.A201T|VILL_ENST00000383759.2_Missense_Mutation_p.A483T			O15195	VILL_HUMAN	villin-like	483					actin filament capping|cytoskeleton organization	actin cytoskeleton	actin binding|structural constituent of cytoskeleton			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|urinary_tract(2)	28				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		CCACTTCCTCGCCATCTTCCA	0.607													14	42					0	0	1	0	0	A	38043319	G	A	38043319	3	1	434	1	0	0	0	0	1	0	0	0	17225	1087	38	1	1493	1	VILL	3	38043319	Missense_Mutation	SNP	G	TCGA-S9-A6WP-01A-12D-A34A-08	24505051	38043319	159979111	10	35005											
SERPINI2	5276	broad.mit.edu	37	3	167189539	167189539	+	Silent	SNP	T	T	C			TCGA-S9-A6WP-01A-12D-A34A-08	TCGA-S9-A6WP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4196c33-5da9-426e-ada5-67f9aee88b70	af25316b-1bef-4cc6-8f82-ffa3065bc7f3	g.chr3:167189539T>C	ENST00000476257.1	-	3	382	c.84A>G	c.(82-84)gaA>gaG	p.E28E	SERPINI2_ENST00000264677.4_Silent_p.E28E|SERPINI2_ENST00000461846.1_Silent_p.E28E|SERPINI2_ENST00000471111.1_Silent_p.E28E|SERPINI2_ENST00000465031.1_5'UTR			O75830	SPI2_HUMAN	serpin peptidase inhibitor, clade I (pancpin), member 2	28					cellular component movement|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(20)|prostate(1)|skin(5)|urinary_tract(1)	41						CCACTGCAAATTCGGTATTTT	0.373													55	74					0	0	1	0	0	C	167189539	T	C	167189539	2	2	434	1	0	0	0	0	0	0	0	1	14173	1490	52	3		3	SERPINI2	3	167189539	Silent	SNP	T	TCGA-S9-A6WP-01A-12D-A34A-08	129146220	167189539	30832891	11	35006											
PCDHGB4	8641	broad.mit.edu	37	5	140768348	140768348	+	Silent	SNP	T	T	C			TCGA-S9-A6WP-01A-12D-A34A-08	TCGA-S9-A6WP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4196c33-5da9-426e-ada5-67f9aee88b70	af25316b-1bef-4cc6-8f82-ffa3065bc7f3	g.chr5:140768348T>C	ENST00000519479.1	+	1	897	c.897T>C	c.(895-897)atT>atC	p.I299I	PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron	NM_003736.2|NM_018925.2|NM_032098.1	NP_003727.1|NP_061748.1|NP_115269.1														endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2)	37			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCGGGGAAATTACTGTTTTAA	0.438													3	45					0	0	1	0	0	C	140768348	T	C	140768348	2	2	434	1	0	0	0	0	0	0	0	1	11612	1742	61	3		3	PCDHGB4	5	140768348	Silent	SNP	T	TCGA-S9-A6WP-01A-12D-A34A-08		140768348	40146912	12	35007											
KCTD16	57528	broad.mit.edu	37	5	143586416	143586416	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6WP-01A-12D-A34A-08	TCGA-S9-A6WP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4196c33-5da9-426e-ada5-67f9aee88b70	af25316b-1bef-4cc6-8f82-ffa3065bc7f3	g.chr5:143586416C>T	ENST00000507359.3	+	2	1230	c.139C>T	c.(139-141)Cct>Tct	p.P47S	KCTD16_ENST00000512467.1_Missense_Mutation_p.P47S	NM_020768.3	NP_065819.1	Q68DU8	KCD16_HUMAN	potassium channel tetramerization domain containing 16		BTB.					cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.P47S(1)		large_intestine(5)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	21		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)			GATAAGCATCCCTCATTCCCT	0.473													7	60					0	0	1	0	0	T	143586416	C	T	143586416	3	4	434	1	0	0	0	0	1	0	0	0	8147	623	22	2	141	2	KCTD16	5	143586416	Missense_Mutation	SNP	C	TCGA-S9-A6WP-01A-12D-A34A-08	2818068	143586416	37328844	13	35008											
DOCK2	1794	broad.mit.edu	37	5	169111328	169111328	+	Silent	SNP	C	C	T			TCGA-S9-A6WP-01A-12D-A34A-08	TCGA-S9-A6WP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4196c33-5da9-426e-ada5-67f9aee88b70	af25316b-1bef-4cc6-8f82-ffa3065bc7f3	g.chr5:169111328C>T	ENST00000256935.8	+	8	815	c.735C>T	c.(733-735)taC>taT	p.Y245Y		NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	245					actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TGTCTCTCTACGACCCCAACA	0.493													12	87					0	0	1	0	0	T	169111328	C	T	169111328	2	4	434	1	0	0	0	0	0	0	0	1	4714	547	19	1		1	DOCK2	5	169111328	Silent	SNP	C	TCGA-S9-A6WP-01A-12D-A34A-08	25524912	169111328	11803932	14	35009											
ZNF292	23036	broad.mit.edu	37	6	87964919	87964920	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-S9-A6WP-01A-12D-A34A-08	TCGA-S9-A6WP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4196c33-5da9-426e-ada5-67f9aee88b70	af25316b-1bef-4cc6-8f82-ffa3065bc7f3	g.chr6:87964919_87964920delAA	ENST00000369577.3	+	8	1615_1616	c.1572_1573delAA	c.(1570-1575)ttaagafs	p.R525fs	ZNF292_ENST00000339907.4_Frame_Shift_Del_p.R520fs	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	525					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		TAAAACAGTTAAGAGAGAGGGG	0.406													15	27	---	---	---	---						-	87964920	AA	-	87964919	7	5	434	1	0	1	0	1	0	0	0	0	17883	359	13	0	1602	0	ZNF292	6	87964919	Frame_Shift_Del	DEL	AA	TCGA-S9-A6WP-01A-12D-A34A-08		87964919	83150148	15	35010											
NSUN5	55695	broad.mit.edu	37	7	72722449	72722451	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-S9-A6WP-01A-12D-A34A-08	TCGA-S9-A6WP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4196c33-5da9-426e-ada5-67f9aee88b70	af25316b-1bef-4cc6-8f82-ffa3065bc7f3	g.chr7:72722449_72722451delCTT	ENST00000428206.1	-	2	206_208	c.193_195delAAG	c.(193-195)aagdel	p.K65del	NSUN5_ENST00000438747.2_In_Frame_Del_p.K65del|NSUN5_ENST00000310326.8_In_Frame_Del_p.K65del|NSUN5_ENST00000252594.6_In_Frame_Del_p.K65del	NM_001168348.1	NP_001161820.1	Q96P11	NSUN5_HUMAN	NOP2/Sun domain family, member 5	65							methyltransferase activity			breast(1)|endometrium(3)|large_intestine(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	8		Lung NSC(55;0.163)				GCGGCCGCAGCTTCTTCTCCGCA	0.66													9	109	---	---	---	---						-	72722451	CTT	-	72722449	7	5	434	1	0	1	0	1	0	0	0	0	10729	796	28	0	1262	0	NSUN5	7	72722449	In_Frame_Del	DEL	CTT	TCGA-S9-A6WP-01A-12D-A34A-08		72722449	86416214	16	35011											
PEX1	5189	broad.mit.edu	37	7	92134081	92134081	+	Missense_Mutation	SNP	C	C	T	rs61750412		TCGA-S9-A6WP-01A-12D-A34A-08	TCGA-S9-A6WP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4196c33-5da9-426e-ada5-67f9aee88b70	af25316b-1bef-4cc6-8f82-ffa3065bc7f3	g.chr7:92134081C>T	ENST00000248633.4	-	12	2131	c.2036G>A	c.(2035-2037)aGt>aAt	p.S679N	PEX1_ENST00000541751.1_Missense_Mutation_p.S96N|PEX1_ENST00000428214.1_Intron|PEX1_ENST00000438045.1_Missense_Mutation_p.S357N	NM_000466.2	NP_000457.1	O43933	PEX1_HUMAN	peroxisomal biogenesis factor 1	679			Missing (in NALD).		microtubule-based peroxisome localization|protein import into peroxisome matrix	cytosol|nucleus|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			CGCATCAGGACTGTGCTCATG	0.517													5	78					0	0	1	0	0	T	92134081	C	T	92134081	3	4	434	1	0	0	0	0	1	0	0	0	11783	565	20	2	1867	2	PEX1	7	92134081	Missense_Mutation	SNP	C	TCGA-S9-A6WP-01A-12D-A34A-08	19411632	92134081	67004582	17	35012											
MET	4233	broad.mit.edu	37	7	116380017	116380017	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6WP-01A-12D-A34A-08	TCGA-S9-A6WP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4196c33-5da9-426e-ada5-67f9aee88b70	af25316b-1bef-4cc6-8f82-ffa3065bc7f3	g.chr7:116380017G>A	ENST00000397752.3	+	4	1606	c.1406G>A	c.(1405-1407)cGa>cAa	p.R469Q	MET_ENST00000495962.1_3'UTR|MET_ENST00000318493.6_Missense_Mutation_p.R469Q|MET_ENST00000436117.2_Missense_Mutation_p.R469Q	NM_000245.2|NM_001127500.1	NP_000236.2|NP_001120972.1	P08581	MET_HUMAN	met proto-oncogene	469	Sema.				axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			GTGGTTTCTCGATCAGGACCA	0.378			Mis		"papillary renal, head-neck squamous cell "	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)				5	183					0	0	1	0	0	A	116380017	G	A	116380017	3	1	434	1	0	0	0	0	1	0	0	0	9535	1058	37	1	1416	1	MET	7	116380017	Missense_Mutation	SNP	G	TCGA-S9-A6WP-01A-12D-A34A-08	24245936	116380017	42758646	18	35013											
ACTR3B	57180	broad.mit.edu	37	7	152497701	152497703	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-S9-A6WP-01A-12D-A34A-08	TCGA-S9-A6WP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4196c33-5da9-426e-ada5-67f9aee88b70	af25316b-1bef-4cc6-8f82-ffa3065bc7f3	g.chr7:152497701_152497703delAGG	ENST00000256001.8	+	3	320_322	c.186_188delAGG	c.(184-189)atagga>ata	p.G63del	ACTR3B_ENST00000377776.3_In_Frame_Del_p.G63del|ACTR3B_ENST00000397282.2_5'UTR|ACTR3B_ENST00000537264.1_Intron	NM_020445.5	NP_065178.1	Q9P1U1	ARP3B_HUMAN	ARP3 actin-related protein 3 homolog B (yeast)	63					regulation of actin filament polymerization	cell projection|cytoplasm|cytoskeleton	actin binding|ATP binding			breast(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	13		all_hematologic(28;0.0592)|Prostate(32;0.191)	OV - Ovarian serous cystadenocarcinoma(82;0.0287)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0434)		ACTTTTTCATAGGAGATGAAGCC	0.399													7	118	---	---	---	---						-	152497703	AGG	-	152497701	7	5	434	1	0	1	0	1	0	0	0	0	213	410	15	0	196	0	ACTR3B	7	152497701	In_Frame_Del	DEL	AGG	TCGA-S9-A6WP-01A-12D-A34A-08	36117684	152497701	6640962	19	35014											
POTEA	340441	broad.mit.edu	37	8	43173619	43173619	+	RNA	SNP	G	G	A			TCGA-S9-A6WP-01A-12D-A34A-08	TCGA-S9-A6WP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4196c33-5da9-426e-ada5-67f9aee88b70	af25316b-1bef-4cc6-8f82-ffa3065bc7f3	g.chr8:43173619G>A	ENST00000522175.2	+	0	905							Q6S8J7	POTEA_HUMAN	POTE ankyrin domain family, member A											breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						AAATGCAGAAGCATGGAAGTA	0.358													9	107					0	0	1	0	0	A	43173619	G	A	43173619	1	1	434	0	1	0	0	0	0	0	0	0	12309	962	34	2		2	POTEA	8	43173619	RNA	SNP	G	TCGA-S9-A6WP-01A-12D-A34A-08		43173619	103190403	20	35015											
ENTPD7	57089	broad.mit.edu	37	10	101448501	101448501	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6WP-01A-12D-A34A-08	TCGA-S9-A6WP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4196c33-5da9-426e-ada5-67f9aee88b70	af25316b-1bef-4cc6-8f82-ffa3065bc7f3	g.chr10:101448501G>A	ENST00000370489.4	+	7	881	c.703G>A	c.(703-705)Gag>Aag	p.E235K		NM_020354.3	NP_065087.1	Q9NQZ7	ENTP7_HUMAN	ectonucleoside triphosphate diphosphohydrolase 7	235						cytoplasmic vesicle membrane|integral to membrane	hydrolase activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|urinary_tract(1)	18		Colorectal(252;0.234)		Epithelial(162;4.72e-10)|all cancers(201;3.75e-08)		ATTCGACCACGAGGATGGTGA	0.363													15	210					0	0	1	0	0	A	101448501	G	A	101448501	3	1	434	1	0	0	0	0	1	0	0	0	5172	1059	37	1	725	1	ENTPD7	10	101448501	Missense_Mutation	SNP	G	TCGA-S9-A6WP-01A-12D-A34A-08		101448501	34086246	21	35016											
GYLTL1B	120071	broad.mit.edu	37	11	45949792	45949792	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6WP-01A-12D-A34A-08	TCGA-S9-A6WP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4196c33-5da9-426e-ada5-67f9aee88b70	af25316b-1bef-4cc6-8f82-ffa3065bc7f3	g.chr11:45949792C>T	ENST00000531526.1	+	13	1930	c.1819C>T	c.(1819-1821)Ccg>Tcg	p.P607S	GYLTL1B_ENST00000401752.1_Missense_Mutation_p.P607S|GYLTL1B_ENST00000325468.5_Missense_Mutation_p.P607S|GYLTL1B_ENST00000536139.1_Missense_Mutation_p.P576S|GYLTL1B_ENST00000529052.1_Missense_Mutation_p.P576S	NM_152312.3	NP_689525.3	Q8N3Y3	LARG2_HUMAN	glycosyltransferase-like 1B	607					muscle cell homeostasis	Golgi membrane|integral to membrane	transferase activity, transferring glycosyl groups			breast(2)|central_nervous_system(2)|endometrium(6)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	22				GBM - Glioblastoma multiforme(35;0.226)		GGCTCAGGCCCCGTACCGTGT	0.657													73	116					0	0	1	0	0	T	45949792	C	T	45949792	3	4	434	1	0	0	0	0	1	0	0	0	6948	623	22	2	1865	2	GYLTL1B	11	45949792	Missense_Mutation	SNP	C	TCGA-S9-A6WP-01A-12D-A34A-08		45949792	89056724	22	35017											
OR9G1	390174	broad.mit.edu	37	11	56468109	56468109	+	Silent	SNP	G	G	C			TCGA-S9-A6WP-01A-12D-A34A-08	TCGA-S9-A6WP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4196c33-5da9-426e-ada5-67f9aee88b70	af25316b-1bef-4cc6-8f82-ffa3065bc7f3	g.chr11:56468109G>C	ENST00000312153.1	+	1	246	c.246G>C	c.(244-246)gtG>gtC	p.V82V		NM_001005213.1	NP_001005213.1			olfactory receptor, family 9, subfamily G, member 1											breast(2)|kidney(1)|lung(25)|stomach(2)|upper_aerodigestive_tract(1)	31						AGATCCTAGTGACCTGCATCT	0.488													5	122					0	0	1	0	0	C	56468109	G	C	56468109	2	2	434	1	0	0	0	0	0	0	0	1	11297	1277	45	5		5	OR9G1	11	56468109	Silent	SNP	G	TCGA-S9-A6WP-01A-12D-A34A-08	10518317	56468109	78538407	23	35018											
C2CD3	26005	broad.mit.edu	37	11	73806412	73806412	+	Silent	SNP	C	C	T			TCGA-S9-A6WP-01A-12D-A34A-08	TCGA-S9-A6WP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4196c33-5da9-426e-ada5-67f9aee88b70	af25316b-1bef-4cc6-8f82-ffa3065bc7f3	g.chr11:73806412C>T	ENST00000334126.7	-	17	3247	c.3021G>A	c.(3019-3021)gaG>gaA	p.E1007E	C2CD3_ENST00000313663.7_Silent_p.E1007E			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	1007						centrosome				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					CTATATGGATCTCAAAGCAGT	0.433													10	110					0	0	1	0	0	T	73806412	C	T	73806412	2	4	434	1	0	0	0	0	0	0	0	1	2168	912	32	2		2	C2CD3	11	73806412	Silent	SNP	C	TCGA-S9-A6WP-01A-12D-A34A-08	17338303	73806412	61200104	24	35019											
TMEM45B	120224	broad.mit.edu	37	11	129722547	129722547	+	Missense_Mutation	SNP	C	C	A			TCGA-S9-A6WP-01A-12D-A34A-08	TCGA-S9-A6WP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4196c33-5da9-426e-ada5-67f9aee88b70	af25316b-1bef-4cc6-8f82-ffa3065bc7f3	g.chr11:129722547C>A	ENST00000281441.3	+	2	258	c.170C>A	c.(169-171)tCc>tAc	p.S57Y	TMEM45B_ENST00000524567.1_Missense_Mutation_p.S57Y	NM_138788.3	NP_620143.1	Q96B21	TM45B_HUMAN	transmembrane protein 45B	57						integral to membrane				endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|stomach(1)	12	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.012)|Lung(977;0.179)|LUSC - Lung squamous cell carcinoma(976;0.189)		ACTTTGTTTTCCGTCACTGGT	0.468													9	66					1.08611e-07	1.19259e-07	1	1	0	A	129722547	C	A	129722547	3	1	434	1	0	0	0	0	1	0	0	0	16230	855	30	5	172	5	TMEM45B	11	129722547	Missense_Mutation	SNP	C	TCGA-S9-A6WP-01A-12D-A34A-08	55916135	129722547	5283969	25	35020											
PRMT8	56341	broad.mit.edu	37	12	3649898	3649900	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-S9-A6WP-01A-12D-A34A-08	TCGA-S9-A6WP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4196c33-5da9-426e-ada5-67f9aee88b70	af25316b-1bef-4cc6-8f82-ffa3065bc7f3	g.chr12:3649898_3649900delGAG	ENST00000382622.3	+	2	592_594	c.202_204delGAG	c.(202-204)gagdel	p.E69del	PRMT8_ENST00000261252.4_3'UTR|PRMT8_ENST00000452611.2_In_Frame_Del_p.E60del	NM_019854.4	NP_062828.3	Q9NR22	ANM8_HUMAN	protein arginine methyltransferase 8	69					regulation of protein binding	cytoplasm|plasma membrane	histone-arginine N-methyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264)			GCTGAACCCAGAGGAGATGACCT	0.581													9	306	---	---	---	---						-	3649900	GAG	-	3649898	7	5	434	1	0	1	0	1	0	0	0	0	12594	943	33	0	208	0	PRMT8	12	3649898	In_Frame_Del	DEL	GAG	TCGA-S9-A6WP-01A-12D-A34A-08		3649898	130201997	26	35021											
MAP3K12	7786	broad.mit.edu	37	12	53875958	53875961	+	Frame_Shift_Del	DEL	TAGA	TAGA	-			TCGA-S9-A6WP-01A-12D-A34A-08	TCGA-S9-A6WP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4196c33-5da9-426e-ada5-67f9aee88b70	af25316b-1bef-4cc6-8f82-ffa3065bc7f3	g.chr12:53875958_53875961delTAGA	ENST00000267079.2	-	14	2470_2473	c.2245_2248delTCTA	c.(2245-2250)tctaccfs	p.ST749fs	MAP3K12_ENST00000547035.1_Frame_Shift_Del_p.ST782fs|MAP3K12_ENST00000547488.1_Frame_Shift_Del_p.ST782fs	NM_001193511.1|NM_006301.3	NP_001180440.1|NP_006292.3	Q12852	M3K12_HUMAN	mitogen-activated protein kinase kinase kinase 12	749					histone phosphorylation|JNK cascade|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation	cytosol|membrane fraction|plasma membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding			NS(2)|breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	37						GAGCTGAAGGTAGATAGTGACTGG	0.52											OREG0021873	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	16	140	---	---	---	---						-	53875961	TAGA	-	53875958	7	5	434	1	0	1	0	1	0	0	0	0	9296	1638	57	0	339	0	MAP3K12	12	53875958	Frame_Shift_Del	DEL	TAGA	TCGA-S9-A6WP-01A-12D-A34A-08	50226060	53875958	79975937	27	35022											
ACTN1	87	broad.mit.edu	37	14	69369214	69369214	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6WP-01A-12D-A34A-08	TCGA-S9-A6WP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4196c33-5da9-426e-ada5-67f9aee88b70	af25316b-1bef-4cc6-8f82-ffa3065bc7f3	g.chr14:69369214C>T	ENST00000193403.6	-	8	1125	c.742G>A	c.(742-744)Gcc>Acc	p.A248T	ACTN1_ENST00000554508.1_5'UTR|ACTN1_ENST00000394419.4_Missense_Mutation_p.A248T|ACTN1_ENST00000438964.2_Missense_Mutation_p.A248T|ACTN1_ENST00000538545.2_Missense_Mutation_p.A248T|ACTN1_ENST00000376839.3_Missense_Mutation_p.A183T	NM_001102.3	NP_001093.1	P12814	ACTN1_HUMAN	actinin, alpha 1	248					focal adhesion assembly|negative regulation of cellular component movement|platelet activation|platelet degranulation|regulation of apoptosis	actin cytoskeleton|cytosol|extracellular region|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|sarcomere	actin binding|calcium ion binding|integrin binding|vinculin binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(9)|prostate(2)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(234;0.00605)|all cancers(60;0.00846)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		CCAGAGAAGGCGTGGTAGAAG	0.577													21	70					0	0	1	0	0	T	69369214	C	T	69369214	3	4	434	1	0	0	0	0	1	0	0	0	204	768	27	1	2062	1	ACTN1	14	69369214	Missense_Mutation	SNP	C	TCGA-S9-A6WP-01A-12D-A34A-08		69369214	37980326	28	35023											
DUOX1	53905	broad.mit.edu	37	15	45455798	45455800	+	In_Frame_Del	DEL	GGA	GGA	-			TCGA-S9-A6WP-01A-12D-A34A-08	TCGA-S9-A6WP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4196c33-5da9-426e-ada5-67f9aee88b70	af25316b-1bef-4cc6-8f82-ffa3065bc7f3	g.chr15:45455798_45455800delGGA	ENST00000321429.4	+	33	4724_4726	c.4317_4319delGGA	c.(4315-4320)gtggag>gtg	p.E1441del	DUOX1_ENST00000389037.3_In_Frame_Del_p.E1441del|CTD-2651B20.1_ENST00000558039.1_lincRNA|DUOX1_ENST00000561166.1_In_Frame_Del_p.E1087del	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	1441					cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		TCCGAGAGGTGGAGGAGAATGAC	0.571											OREG0023103	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	109	---	---	---	---						-	45455800	GGA	-	45455798	7	5	434	1	0	1	0	1	0	0	0	0	4826	1335	47	0	4439	0	DUOX1	15	45455798	In_Frame_Del	DEL	GGA	TCGA-S9-A6WP-01A-12D-A34A-08		45455798	57075594	29	35024											
ACSBG1	23205	broad.mit.edu	37	15	78487029	78487029	+	Missense_Mutation	SNP	C	C	T	rs148216585		TCGA-S9-A6WP-01A-12D-A34A-08	TCGA-S9-A6WP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4196c33-5da9-426e-ada5-67f9aee88b70	af25316b-1bef-4cc6-8f82-ffa3065bc7f3	g.chr15:78487029C>T	ENST00000258873.4	-	3	477	c.272G>A	c.(271-273)cGc>cAc	p.R91H	ACSBG1_ENST00000541759.1_Intron|ACSBG1_ENST00000560817.1_Intron|ACSBG1_ENST00000558828.1_5'UTR	NM_001199377.1|NM_015162.4	NP_001186306.1|NP_055977.3	Q96GR2	ACBG1_HUMAN	acyl-CoA synthetase bubblegum family member 1	91					long-chain fatty acid metabolic process|myelination|very long-chain fatty acid metabolic process	cytoplasmic membrane-bounded vesicle|endoplasmic reticulum|microsome	ATP binding|long-chain fatty acid-CoA ligase activity|very long-chain fatty acid-CoA ligase activity			endometrium(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	37						TATGCGCAGGCGCACCCGCCC	0.632													14	109					0	0	1	0	0	T	78487029	C	T	78487029	3	4	434	1	0	0	0	0	1	0	0	0	173	768	27	1	1950	1	ACSBG1	15	78487029	Missense_Mutation	SNP	C	TCGA-S9-A6WP-01A-12D-A34A-08	33031231	78487029	24044363	30	35025											
COG7	91949	broad.mit.edu	37	16	23400383	23400383	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6WP-01A-12D-A34A-08	TCGA-S9-A6WP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4196c33-5da9-426e-ada5-67f9aee88b70	af25316b-1bef-4cc6-8f82-ffa3065bc7f3	g.chr16:23400383G>A	ENST00000307149.5	-	17	2356	c.2171C>T	c.(2170-2172)gCc>gTc	p.A724V		NM_153603.3	NP_705831.1	P83436	COG7_HUMAN	component of oligomeric golgi complex 7	724					intracellular protein transport|protein glycosylation|protein localization in Golgi apparatus|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding			breast(1)|central_nervous_system(1)|endometrium(7)|large_intestine(9)|liver(1)|lung(7)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.0401)		CAGGCCCAGGGCATCCATCAC	0.627													3	38					0	0	1	0	0	A	23400383	G	A	23400383	3	1	434	1	0	0	0	0	1	0	0	0	3686	1203	42	2	145	2	COG7	16	23400383	Missense_Mutation	SNP	G	TCGA-S9-A6WP-01A-12D-A34A-08		23400383	66954370	31	35026											
RBBP6	5930	broad.mit.edu	37	16	24583552	24583553	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-S9-A6WP-01A-12D-A34A-08	TCGA-S9-A6WP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4196c33-5da9-426e-ada5-67f9aee88b70	af25316b-1bef-4cc6-8f82-ffa3065bc7f3	g.chr16:24583552_24583553delAA	ENST00000319715.4	+	18	5597_5598	c.5165_5166delAA	c.(5164-5166)gaafs	p.E1722fs	RBBP6_ENST00000381039.3_Frame_Shift_Del_p.E882fs|RBBP6_ENST00000348022.2_Frame_Shift_Del_p.E1688fs	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	1722					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		Agctcagcagaaagtcaggaca	0.485													10	26	---	---	---	---						-	24583553	AA	-	24583552	7	5	434	1	0	1	0	1	0	0	0	0	13155	246	9	0	5289	0	RBBP6	16	24583552	Frame_Shift_Del	DEL	AA	TCGA-S9-A6WP-01A-12D-A34A-08	1183169	24583552	65771201	32	35027											
ITGAX	3687	broad.mit.edu	37	16	31371635	31371635	+	Nonsense_Mutation	SNP	C	C	T			TCGA-S9-A6WP-01A-12D-A34A-08	TCGA-S9-A6WP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4196c33-5da9-426e-ada5-67f9aee88b70	af25316b-1bef-4cc6-8f82-ffa3065bc7f3	g.chr16:31371635C>T	ENST00000268296.4	+	8	833	c.712C>T	c.(712-714)Cga>Tga	p.R238*	ITGAX_ENST00000562522.1_Nonsense_Mutation_p.R238*	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	238	VWFA.				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						TGATAGGCACCGATTGTTCCA	0.498													55	95					0	0	1	0	0	T	31371635	C	T	31371635	4	4	434	1	0	0	0	0	0	1	0	0	7933	644	23	1	742	1	ITGAX	16	31371635	Nonsense_Mutation	SNP	C	TCGA-S9-A6WP-01A-12D-A34A-08	6788083	31371635	58983118	33	35028											
HYDIN	54768	broad.mit.edu	37	16	70975652	70975652	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6WP-01A-12D-A34A-08	TCGA-S9-A6WP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4196c33-5da9-426e-ada5-67f9aee88b70	af25316b-1bef-4cc6-8f82-ffa3065bc7f3	g.chr16:70975652G>A	ENST00000393567.2	-	43	6890	c.6740C>T	c.(6739-6741)gCc>gTc	p.A2247V		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	2247										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				GCAGAGGAGGGCGGCTGCAGC	0.537													50	72					0	0	1	0	0	A	70975652	G	A	70975652	3	1	434	1	0	0	0	0	1	0	0	0	7511	1203	42	2	8801	2	HYDIN	16	70975652	Missense_Mutation	SNP	G	TCGA-S9-A6WP-01A-12D-A34A-08	39604017	70975652	19379101	34	35029											
NF1	4763	broad.mit.edu	37	17	29556222	29556222	+	Nonsense_Mutation	SNP	T	T	A			TCGA-S9-A6WP-01A-12D-A34A-08	TCGA-S9-A6WP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4196c33-5da9-426e-ada5-67f9aee88b70	af25316b-1bef-4cc6-8f82-ffa3065bc7f3	g.chr17:29556222T>A	ENST00000358273.4	+	21	2972	c.2589T>A	c.(2587-2589)taT>taA	p.Y863*	NF1_ENST00000356175.3_Nonsense_Mutation_p.Y863*	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	863					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TGGCAACCTATAGCCCACCCA	0.502			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			28	43					0	0	1	0	0	A	29556222	T	A	29556222	4	1	434	1	0	0	0	0	0	1	0	0	10403	1413	49	4	2732	4	NF1	17	29556222	Nonsense_Mutation	SNP	T	TCGA-S9-A6WP-01A-12D-A34A-08		29556222	51638988	35	35030											
NF1	4763	broad.mit.edu	37	17	29562657	29562660	+	Frame_Shift_Del	DEL	TGTT	TGTT	-			TCGA-S9-A6WP-01A-12D-A34A-08	TCGA-S9-A6WP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4196c33-5da9-426e-ada5-67f9aee88b70	af25316b-1bef-4cc6-8f82-ffa3065bc7f3	g.chr17:29562657_29562660delTGTT	ENST00000358273.4	+	28	4120_4123	c.3737_3740delTGTT	c.(3736-3741)ctgtttfs	p.LF1246fs	NF1_ENST00000356175.3_Frame_Shift_Del_p.LF1246fs	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1246	Ras-GAP.				actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(4)|p.F1247fs*16(1)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		CTGGTTACTCTGTTTGATTCTCGG	0.412			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			53	264	---	---	---	---						-	29562660	TGTT	-	29562657	7	5	434	1	0	1	0	1	0	0	0	0	10403	1580	55	0	3908	0	NF1	17	29562657	Frame_Shift_Del	DEL	TGTT	TCGA-S9-A6WP-01A-12D-A34A-08	6435	29562657	51632553	36	35031											
GPR179	440435	broad.mit.edu	37	17	36489867	36489869	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-S9-A6WP-01A-12D-A34A-08	TCGA-S9-A6WP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4196c33-5da9-426e-ada5-67f9aee88b70	af25316b-1bef-4cc6-8f82-ffa3065bc7f3	g.chr17:36489867_36489869delGAA	ENST00000342292.4	-	9	1857_1859	c.1837_1839delTTC	c.(1837-1839)ttcdel	p.F613del		NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	613						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				TGTGGGTGTGGAAGAAGAAGAGG	0.621											OREG0024354	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	60	---	---	---	---						-	36489869	GAA	-	36489867	7	5	434	1	0	1	0	1	0	0	0	0	6714	1165	41	0	5276	0	GPR179	17	36489867	In_Frame_Del	DEL	GAA	TCGA-S9-A6WP-01A-12D-A34A-08	6927210	36489867	44705343	37	35032											
CDC6	990	broad.mit.edu	37	17	38451607	38451607	+	Splice_Site	SNP	G	G	A			TCGA-S9-A6WP-01A-12D-A34A-08	TCGA-S9-A6WP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4196c33-5da9-426e-ada5-67f9aee88b70	af25316b-1bef-4cc6-8f82-ffa3065bc7f3	g.chr17:38451607G>A	ENST00000209728.4	+	8	1554		c.e8-1			NM_001254.3	NP_001245.1	Q99741	CDC6_HUMAN	cell division cycle 6						cell division|DNA replication|DNA replication checkpoint|M/G1 transition of mitotic cell cycle|mitosis|negative regulation of cell proliferation|negative regulation of DNA replication|positive regulation of cell cycle cytokinesis|positive regulation of chromosome segregation|regulation of cyclin-dependent protein kinase activity|regulation of mitotic anaphase|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|traversing start control point of mitotic cell cycle	cytosol|nucleoplasm|spindle midzone|spindle pole	ATP binding|kinase binding|nucleoside-triphosphatase activity			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	21						CTTGTCTGAAGGTATCTAGAG	0.408													41	77					0	0	1	0	0	A	38451607	G	A	38451607	5	1	434	1	0	0	0	0	0	0	1	0	3105	1014	35	2	1109	2	CDC6	17	38451607	Splice_Site	SNP	G	TCGA-S9-A6WP-01A-12D-A34A-08	1961740	38451607	42743603	38	35033											
GOSR2	9570	broad.mit.edu	37	17	45016041	45016041	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6WP-01A-12D-A34A-08	TCGA-S9-A6WP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4196c33-5da9-426e-ada5-67f9aee88b70	af25316b-1bef-4cc6-8f82-ffa3065bc7f3	g.chr17:45016041G>A	ENST00000576910.2	+	5	489	c.413G>A	c.(412-414)cGg>cAg	p.R138Q	GOSR2_ENST00000225567.4_Missense_Mutation_p.R185Q|RP11-156P1.2_ENST00000571841.1_Missense_Mutation_p.R185Q|GOSR2_ENST00000439730.2_Missense_Mutation_p.R185Q|GOSR2_ENST00000393456.2_Missense_Mutation_p.R185Q			O14653	GOSR2_HUMAN	golgi SNAP receptor complex member 2	185					cellular membrane fusion|ER to Golgi vesicle-mediated transport|protein transport	Golgi membrane|integral to membrane	transporter activity			kidney(1)|large_intestine(2)|liver(1)|lung(1)|ovary(1)|skin(1)	7			BRCA - Breast invasive adenocarcinoma(9;0.102)			ATCGAGAAGCGGGCTTTCCAG	0.527													68	106					0	0	1	0	0	A	45016041	G	A	45016041	3	1	434	1	0	0	0	0	1	0	0	0	6617	1116	39	1	687	1	GOSR2	17	45016041	Missense_Mutation	SNP	G	TCGA-S9-A6WP-01A-12D-A34A-08	6564434	45016041	36179169	39	35034											
COL1A1	1277	broad.mit.edu	37	17	48263208	48263208	+	Silent	SNP	G	G	C	rs1800219	byFrequency	TCGA-S9-A6WP-01A-12D-A34A-08	TCGA-S9-A6WP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4196c33-5da9-426e-ada5-67f9aee88b70	af25316b-1bef-4cc6-8f82-ffa3065bc7f3	g.chr17:48263208G>C	ENST00000225964.5	-	50	4297	c.4179C>G	c.(4177-4179)tcC>tcG	p.S1393S		NM_000088.3	NP_000079	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	1393	Fibrillar collagen NC1.				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)|Palifermin(DB00039)	CGATCTCGTTGGAGCCCTGGA	0.632			T	"PDGFB, USP6"	"dermatofibrosarcoma protuberans, aneurysmal bone cyst "		Osteogenesis imperfecta						27	43					0	0	1	0	0	C	48263208	G	C	48263208	2	2	434	1	0	0	0	0	0	0	0	1	3700	1335	47	5		5	COL1A1	17	48263208	Silent	SNP	G	TCGA-S9-A6WP-01A-12D-A34A-08	3247167	48263208	32932002	40	35035											
MBD2	8932	broad.mit.edu	37	18	51715312	51715312	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A6WP-01A-12D-A34A-08	TCGA-S9-A6WP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4196c33-5da9-426e-ada5-67f9aee88b70	af25316b-1bef-4cc6-8f82-ffa3065bc7f3	g.chr18:51715312T>C	ENST00000256429.3	-	3	1000	c.772A>G	c.(772-774)Aaa>Gaa	p.K258E		NM_003927.4	NP_003918.1	Q9UBB5	MBD2_HUMAN	methyl-CpG binding domain protein 2	258					transcription, DNA-dependent		C2H2 zinc finger domain binding|methyl-CpG binding|satellite DNA binding			breast(1)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1)	8				Colorectal(16;0.0212)|READ - Rectum adenocarcinoma(32;0.188)	Hexobarbital(DB01355)	TTTGTGACTTTGGTTACCGGT	0.333													4	156					0	0	1	0	0	C	51715312	T	C	51715312	3	2	434	1	0	0	0	0	1	0	0	0	9393	1821	63	3	479	3	MBD2	18	51715312	Missense_Mutation	SNP	T	TCGA-S9-A6WP-01A-12D-A34A-08		51715312	26361936	41	35036											
TCF3	6929	broad.mit.edu	37	19	1623982	1623982	+	Missense_Mutation	SNP	C	C	A			TCGA-S9-A6WP-01A-12D-A34A-08	TCGA-S9-A6WP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4196c33-5da9-426e-ada5-67f9aee88b70	af25316b-1bef-4cc6-8f82-ffa3065bc7f3	g.chr19:1623982C>A	ENST00000262965.5	-	8	861	c.517G>T	c.(517-519)Gtc>Ttc	p.V173F	TCF3_ENST00000588136.1_Missense_Mutation_p.V173F|TCF3_ENST00000344749.5_Missense_Mutation_p.V173F|TCF3_ENST00000453954.2_Missense_Mutation_p.V89F|TCF3_ENST00000395423.3_Missense_Mutation_p.V122F	NM_003200.3	NP_003191.1	P15923	TFE2_HUMAN	transcription factor 3	173					B cell lineage commitment|G1 phase of mitotic cell cycle|immunoglobulin V(D)J recombination|muscle cell differentiation|positive regulation of B cell proliferation|positive regulation of cell cycle|positive regulation of muscle cell differentiation|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus|protein complex|transcription factor complex	bHLH transcription factor binding|DNA binding|E-box binding|identical protein binding|mitogen-activated protein kinase kinase kinase binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|vitamin D response element binding			breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	16		Acute lymphoblastic leukemia(61;5.94e-12)|all_hematologic(61;1.27e-07)		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)		ACCTTCCGGACCTTCTTGGGC	0.637			T	"PBX1, HLF, TFPT"	pre B-ALL								14	27					8.00594e-06	8.62178e-06	1	1	0	A	1623982	C	A	1623982	3	1	434	1	0	0	0	0	1	0	0	0	15754	507	18	5	1726	5	TCF3	19	1623982	Missense_Mutation	SNP	C	TCGA-S9-A6WP-01A-12D-A34A-08		1623982	57505001	42	35037											
NCOA3	8202	broad.mit.edu	37	20	46279863	46279863	+	Silent	SNP	G	G	A	rs67218125	byFrequency	TCGA-S9-A6WP-01A-12D-A34A-08	TCGA-S9-A6WP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4196c33-5da9-426e-ada5-67f9aee88b70	af25316b-1bef-4cc6-8f82-ffa3065bc7f3	g.chr20:46279863G>A	ENST00000372004.3	+	20	3993	c.3777G>A	c.(3775-3777)caG>caA	p.Q1259Q	NCOA3_ENST00000341724.6_Silent_p.Q1189Q|NCOA3_ENST00000371998.3_Silent_p.Q1263Q|NCOA3_ENST00000371997.3_Silent_p.Q1254Q	NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2	NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1	Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	1263	Acetyltransferase.|Poly-Gln.				androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding			breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						agcagcagcagcaacagcaac	0.567													4	65					0	0	1	0	0	A	46279863	G	A	46279863	2	1	434	1	0	0	0	0	0	0	0	1	10277	962	34	2		2	NCOA3	20	46279863	Silent	SNP	G	TCGA-S9-A6WP-01A-12D-A34A-08		46279863	16745657	43	35038											
TMEM189	387521	broad.mit.edu	37	20	48699408	48699408	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6WP-01A-12D-A34A-08	TCGA-S9-A6WP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4196c33-5da9-426e-ada5-67f9aee88b70	af25316b-1bef-4cc6-8f82-ffa3065bc7f3	g.chr20:48699408G>A	ENST00000557021.1	-	8	1170	c.1010C>T	c.(1009-1011)tCa>tTa	p.S337L	UBE2V1_ENST00000371677.3_Missense_Mutation_p.S137L|UBE2V1_ENST00000396059.3_5'UTR|UBE2V1_ENST00000371657.5_Missense_Mutation_p.S72L|UBE2V1_ENST00000340309.3_Missense_Mutation_p.S137L|UBE2V1_ENST00000371674.3_Missense_Mutation_p.S114L|UBE2V1_ENST00000420027.2_Missense_Mutation_p.S70L|UBE2V1_ENST00000415862.2_Missense_Mutation_p.S70L|TMEM189-UBE2V1_ENST00000341698.2_Missense_Mutation_p.S337L	NM_199203.2	NP_954673			transmembrane protein 189											breast(1)|endometrium(2)|large_intestine(3)|lung(2)	8			BRCA - Breast invasive adenocarcinoma(9;3.02e-07)			GATGCTATATGAATTCTGCCA	0.423													7	81					0	0	1	0	0	A	48699408	G	A	48699408	3	1	434	1	0	0	0	0	1	0	0	0	16171	1294	45	2		2	TMEM189	20	48699408	Missense_Mutation	SNP	G	TCGA-S9-A6WP-01A-12D-A34A-08	2419545	48699408	14326112	44	35039											
BAGE2	85319	broad.mit.edu	37	21	11038990	11038990	+	RNA	SNP	G	G	A			TCGA-S9-A6WP-01A-12D-A34A-08	TCGA-S9-A6WP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4196c33-5da9-426e-ada5-67f9aee88b70	af25316b-1bef-4cc6-8f82-ffa3065bc7f3	g.chr21:11038990G>A	ENST00000470054.1	-	0	1213									B melanoma antigen family, member 2															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)		TTATAGATTTGCCTCCTTGGT	0.398													13	603					0	0	1	0	0	A	11038990	G	A	11038990	1	1	434	0	1	0	0	0	0	0	0	0	1290	1334	46	2		2	BAGE2	21	11038990	RNA	SNP	G	TCGA-S9-A6WP-01A-12D-A34A-08		11038990	37090905	45	35040											
MCM3AP	8888	broad.mit.edu	37	21	47704304	47704304	+	Silent	SNP	G	G	A			TCGA-S9-A6WP-01A-12D-A34A-08	TCGA-S9-A6WP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4196c33-5da9-426e-ada5-67f9aee88b70	af25316b-1bef-4cc6-8f82-ffa3065bc7f3	g.chr21:47704304G>A	ENST00000397708.1	-	2	1151	c.897C>T	c.(895-897)cgC>cgT	p.R299R	MCM3AP_ENST00000291688.1_Silent_p.R299R			O60318	MCM3A_HUMAN	minichromosome maintenance complex component 3 associated protein	299					DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					TCCTTGGGGAGCGATCCTGGT	0.577													8	130					0	0	1	0	0	A	47704304	G	A	47704304	2	1	434	1	0	0	0	0	0	0	0	1	9438	958	34	2		2	MCM3AP	21	47704304	Silent	SNP	G	TCGA-S9-A6WP-01A-12D-A34A-08	36665314	47704304	425591	46	35041											
DIP2A	23181	broad.mit.edu	37	21	47959885	47959888	+	Frame_Shift_Del	DEL	CTGA	CTGA	-			TCGA-S9-A6WP-01A-12D-A34A-08	TCGA-S9-A6WP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4196c33-5da9-426e-ada5-67f9aee88b70	af25316b-1bef-4cc6-8f82-ffa3065bc7f3	g.chr21:47959885_47959888delCTGA	ENST00000318711.7	+	17	2203_2206	c.2020_2023delCTGA	c.(2020-2025)ctgactfs	p.LT674fs	DIP2A_ENST00000417564.2_Frame_Shift_Del_p.LT673fs|DIP2A_ENST00000400274.1_Frame_Shift_Del_p.LT669fs|DIP2A_ENST00000435722.3_Frame_Shift_Del_p.LT673fs|DIP2A_ENST00000427143.2_Frame_Shift_Del_p.LT609fs|DIP2A_ENST00000466639.1_Frame_Shift_Del_p.LT630fs|DIP2A_ENST00000457905.3_Frame_Shift_Del_p.LT673fs	NM_001146116.1|NM_015151.3	NP_001139588.1|NP_055966.2	Q14689	DIP2A_HUMAN	DIP2 disco-interacting protein 2 homolog A (Drosophila)	673					multicellular organismal development	nucleus	catalytic activity|transcription factor binding			cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		TCCTGAGGCGCTGACTGTCGCCAT	0.534													7	142	---	---	---	---						-	47959888	CTGA	-	47959885	7	5	434	1	0	1	0	1	0	0	0	0	4555	796	28	0	2083	0	DIP2A	21	47959885	Frame_Shift_Del	DEL	CTGA	TCGA-S9-A6WP-01A-12D-A34A-08	255581	47959885	170010	47	35042											
CXorf22	170063	broad.mit.edu	37	X	35985740	35985740	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A6WP-01A-12D-A34A-08	TCGA-S9-A6WP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4196c33-5da9-426e-ada5-67f9aee88b70	af25316b-1bef-4cc6-8f82-ffa3065bc7f3	g.chrX:35985740A>G	ENST00000297866.5	+	10	1671	c.1605A>G	c.(1603-1605)atA>atG	p.I535M		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	535										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						TAAAAGGTATATTGCCTTCGA	0.323													9	25					0	0	1	0	0	G	35985740	A	G	35985740	3	3	434	1	0	0	0	0	1	0	0	0	4125	439	16	3	1643	3	CXorf22	23	35985740	Missense_Mutation	SNP	A	TCGA-S9-A6WP-01A-12D-A34A-08		35985740	119284820	48	35043											
PCDH19	57526	broad.mit.edu	37	X	99663560	99663562	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-S9-A6WP-01A-12D-A34A-08	TCGA-S9-A6WP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4196c33-5da9-426e-ada5-67f9aee88b70	af25316b-1bef-4cc6-8f82-ffa3065bc7f3	g.chrX:99663560_99663562delCAG	ENST00000373034.4	-	1	1709_1711	c.34_36delCTG	c.(34-36)ctgdel	p.L12del	PCDH19_ENST00000255531.7_In_Frame_Del_p.L12del|PCDH19_ENST00000420881.2_In_Frame_Del_p.L12del	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	12					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						ACAGTATGGCCAGCAGCAGCAGC	0.665													3	6	---	---	---	---						-	99663562	CAG	-	99663560	7	5	434	1	0	1	0	1	0	0	0	0	11561	581	21	0	3434	0	PCDH19	23	99663560	In_Frame_Del	DEL	CAG	TCGA-S9-A6WP-01A-12D-A34A-08	63677820	99663560	55607000	49	35044											
HMGB3	3149	broad.mit.edu	37	X	150156360	150156360	+	Silent	SNP	G	G	A			TCGA-S9-A6WP-01A-12D-A34A-08	TCGA-S9-A6WP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4196c33-5da9-426e-ada5-67f9aee88b70	af25316b-1bef-4cc6-8f82-ffa3065bc7f3	g.chrX:150156360G>A	ENST00000325307.7	+	5	672	c.576G>A	c.(574-576)gaG>gaA	p.E192E	HMGB3_ENST00000448905.2_Silent_p.E192E	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN	high mobility group box 3	192	Asp/Glu-rich (acidic).				DNA recombination|multicellular organismal development	chromosome|nucleus	DNA bending activity|double-stranded DNA binding	p.E192E(1)		endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8	Acute lymphoblastic leukemia(192;6.56e-05)					aggaagaagaggaggaggagg	0.443													4	45					0	0	1	0	0	A	150156360	G	A	150156360	2	1	434	1	0	0	0	0	0	0	0	1	7268	991	35	2		2	HMGB3	23	150156360	Silent	SNP	G	TCGA-S9-A6WP-01A-12D-A34A-08	50492800	150156360	5114200	50	35045											
MYOM3	127294	broad.mit.edu	37	1	24387782	24387782	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chr1:24387782C>T	ENST00000330966.7	-	34	4123	c.3961G>A	c.(3961-3963)Gct>Act	p.A1321T	MYOM3_ENST00000374434.3_Missense_Mutation_p.A1318T|MYOM3_ENST00000338909.5_Missense_Mutation_p.A211T|RP11-293P20.2_ENST00000439239.2_RNA			Q5VTT5	MYOM3_HUMAN	myomesin 3	1318										NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		TGGTGTTCAGCCATTGCATCC	0.512													3	34					0	0	1	0	0	T	24387782	C	T	24387782	3	4	435	1	0	0	0	0	1	0	0	0	10141	739	26	2	377	2	MYOM3	1	24387782	Missense_Mutation	SNP	C	TCGA-S9-A6WQ-01A-12D-A34A-08		24387782	224862839	1	35046											
FAM167B	84734	broad.mit.edu	37	1	32713141	32713141	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chr1:32713141G>A	ENST00000373582.3	+	1	308	c.119G>A	c.(118-120)cGg>cAg	p.R40Q		NM_032648.2	NP_116037.2	Q9BTA0	F167B_HUMAN	family with sequence similarity 167, member B	40										endometrium(1)|large_intestine(1)|lung(1)|ovary(2)	5						CAGACTCGGCGGCCCTCATAT	0.627													3	44					0	0	1	0	0	A	32713141	G	A	32713141	3	1	435	1	0	0	0	0	1	0	0	0	5514	1116	39	1	121	1	FAM167B	1	32713141	Missense_Mutation	SNP	G	TCGA-S9-A6WQ-01A-12D-A34A-08	8325359	32713141	216537480	2	35047											
LPPR4	9890	broad.mit.edu	37	1	99753613	99753613	+	Silent	SNP	C	C	T			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chr1:99753613C>T	ENST00000370185.3	+	2	812	c.315C>T	c.(313-315)gaC>gaT	p.D105D	LPPR4_ENST00000457765.1_Silent_p.D105D	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		105							phosphatidate phosphatase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		GCTGCTATGACCGGAGTCTTA	0.458													4	137					0	0	1	0	0	T	99753613	C	T	99753613	2	4	435	1	0	0	0	0	0	0	0	1	8972	506	18	2		2	LPPR4	1	99753613	Silent	SNP	C	TCGA-S9-A6WQ-01A-12D-A34A-08	67040472	99753613	149497008	3	35048											
EXTL2	2135	broad.mit.edu	37	1	101343193	101343193	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chr1:101343193T>C	ENST00000370114.3	-	3	1708	c.272A>G	c.(271-273)aAt>aGt	p.N91S	EXTL2_ENST00000370113.3_Missense_Mutation_p.N91S|EXTL2_ENST00000535414.1_Missense_Mutation_p.N78S	NM_001033025.2|NM_001261440.1	NP_001028197.1|NP_001248369.1	Q9UBQ6	EXTL2_HUMAN	exostosin-like glycosyltransferase 2	91					N-acetylglucosamine metabolic process|UDP-N-acetylgalactosamine metabolic process	extracellular region|integral to membrane|intrinsic to endoplasmic reticulum membrane	alpha-1,4-N-acetylgalactosaminyltransferase activity|glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|skin(1)|urinary_tract(1)	14		all_epithelial(167;2.48e-06)|all_lung(203;0.000414)|Lung NSC(277;0.000946)		Epithelial(280;0.0425)|all cancers(265;0.0628)|COAD - Colon adenocarcinoma(174;0.148)|Colorectal(144;0.167)|Lung(183;0.195)		TTTGTGCAGATTTGGTACAGC	0.418													4	136					0	0	1	0	0	C	101343193	T	C	101343193	3	2	435	1	0	0	0	0	1	0	0	0	5354	1493	52	3	732	3	EXTL2	1	101343193	Missense_Mutation	SNP	T	TCGA-S9-A6WQ-01A-12D-A34A-08	1589580	101343193	147907428	4	35049											
FLG	2312	broad.mit.edu	37	1	152283076	152283076	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chr1:152283076C>T	ENST00000368799.1	-	3	4321	c.4286G>A	c.(4285-4287)gGc>gAc	p.G1429D	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1429	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCCTGACTGGCCACGTGCGGA	0.557									Ichthyosis				5	298					0	0	1	0	0	T	152283076	C	T	152283076	3	4	435	1	0	0	0	0	1	0	0	0	5955	739	26	2	7903	2	FLG	1	152283076	Missense_Mutation	SNP	C	TCGA-S9-A6WQ-01A-12D-A34A-08	50939883	152283076	96967545	5	35050											
NSL1	25936	broad.mit.edu	37	1	212957773	212957773	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chr1:212957773G>A	ENST00000366977.3	-	3	394	c.376C>T	c.(376-378)Cgt>Tgt	p.R126C	NSL1_ENST00000366975.6_Missense_Mutation_p.R126C|NSL1_ENST00000366978.1_Missense_Mutation_p.R23C|NSL1_ENST00000473995.1_5'UTR|NSL1_ENST00000422588.2_Missense_Mutation_p.R126C|NSL1_ENST00000366976.1_Missense_Mutation_p.R126C	NM_015471.3	NP_056286.3	Q96IY1	NSL1_HUMAN	NSL1, MIS12 kinetochore complex component	126					cell division|chromosome segregation|mitotic prometaphase	cytosol|MIS12/MIND type complex|nucleus	protein binding			breast(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	9				OV - Ovarian serous cystadenocarcinoma(81;0.00597)|all cancers(67;0.00893)|GBM - Glioblastoma multiforme(131;0.0514)|Epithelial(68;0.102)		TACTGCTTACGTTTTGTGGCT	0.303													26	86					0	0	1	0	0	A	212957773	G	A	212957773	3	1	435	1	0	0	0	0	1	0	0	0	10721	1145	40	1	574	1	NSL1	1	212957773	Missense_Mutation	SNP	G	TCGA-S9-A6WQ-01A-12D-A34A-08	60674697	212957773	36292848	6	35051											
LBR	3930	broad.mit.edu	37	1	225591028	225591028	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chr1:225591028G>A	ENST00000338179.2	-	14	1950	c.1825C>T	c.(1825-1827)Cgt>Tgt	p.R609C	LBR_ENST00000272163.4_Missense_Mutation_p.R609C	NM_194442.2	NP_919424.1	Q14739	LBR_HUMAN	lamin B receptor	609					cholesterol biosynthetic process	integral to nuclear inner membrane	chromo shadow domain binding|delta14-sterol reductase activity|DNA binding|lamin binding|receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22	Breast(184;0.165)			GBM - Glioblastoma multiforme(131;0.117)		GGAAATATACGGTAGGGCACA	0.438													23	61					0	0	1	0	0	A	225591028	G	A	225591028	3	1	435	1	0	0	0	0	1	0	0	0	8691	1116	39	1	26	1	LBR	1	225591028	Missense_Mutation	SNP	G	TCGA-S9-A6WQ-01A-12D-A34A-08	12633255	225591028	23659593	7	35052											
TMEM214	54867	broad.mit.edu	37	2	27256953	27256953	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chr2:27256953G>A	ENST00000238788.9	+	2	232	c.170G>A	c.(169-171)aGc>aAc	p.S57N	TMEM214_ENST00000404032.3_Missense_Mutation_p.S57N	NM_017727.4	NP_060197.4	Q6NUQ4	TM214_HUMAN	transmembrane protein 214	57						integral to membrane	protein binding			kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						CAGACCACAAGCACCCTTTAT	0.542													8	116					0	0	1	0	0	A	27256953	G	A	27256953	3	1	435	1	0	0	0	0	1	0	0	0	16197	971	34	2	176	2	TMEM214	2	27256953	Missense_Mutation	SNP	G	TCGA-S9-A6WQ-01A-12D-A34A-08		27256953	215942420	8	35053											
INPP4A	3631	broad.mit.edu	37	2	99137191	99137191	+	Frame_Shift_Del	DEL	T	T	-			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chr2:99137191delT	ENST00000409016.4	+	4	545	c.148delT	c.(148-150)ttafs	p.L50fs	INPP4A_ENST00000523221.1_Frame_Shift_Del_p.L50fs|INPP4A_ENST00000545415.1_Frame_Shift_Del_p.L50fs|INPP4A_ENST00000409540.3_Frame_Shift_Del_p.L50fs|INPP4A_ENST00000409463.1_Frame_Shift_Del_p.L50fs|INPP4A_ENST00000074304.5_Frame_Shift_Del_p.L50fs|INPP4A_ENST00000409851.3_Frame_Shift_Del_p.L50fs			Q96PE3	INP4A_HUMAN	inositol polyphosphate-4-phosphatase, type I, 107kDa		C2.				signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity			breast(1)|endometrium(9)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(4)|upper_aerodigestive_tract(4)	43						AGAATTTAGCTTAGGTAGGTA	0.303													2	4	---	---	---	---						-	99137191	T	-	99137191	7	5	435	1	0	1	0	1	0	0	0	0	7796	1606	56	0	154	0	INPP4A	2	99137191	Frame_Shift_Del	DEL	T	TCGA-S9-A6WQ-01A-12D-A34A-08	71880238	99137191	144062182	9	35054											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	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	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								27	57					0	0	1	0	0	T	209113112	C	T	209113112	3	4	435	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-S9-A6WQ-01A-12D-A34A-08	109975921	209113112	34086261	10	35055											
PTMA	5757	broad.mit.edu	37	2	232574924	232574924	+	Frame_Shift_Del	DEL	G	G	-			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chr2:232574924delG	ENST00000410064.1	+	1	434	c.36delG	c.(34-36)gtgfs	p.V12fs	PTMA_ENST00000409683.1_Intron|PTMA_ENST00000466801.1_Intron|PTMA_ENST00000409321.1_Intron|PTMA_ENST00000409115.3_Intron|PTMA_ENST00000341369.7_Intron			P06454	PTMA_HUMAN	prothymosin, alpha	0					transcription, DNA-dependent	nucleus				lung(3)|ovary(1)|prostate(1)|skin(1)	6		Renal(207;0.0112)|all_hematologic(139;0.0315)|Acute lymphoblastic leukemia(138;0.0921)|all_lung(227;0.142)		Epithelial(121;1.75e-12)|BRCA - Breast invasive adenocarcinoma(100;0.00221)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0139)		TGGCGGCAGTGGGGCGTCGAG	0.721													2	4	---	---	---	---						-	232574924	G	-	232574924	7	5	435	1	0	1	0	1	0	0	0	0	12816	1363	47	0		0	PTMA	2	232574924	Frame_Shift_Del	DEL	G	TCGA-S9-A6WQ-01A-12D-A34A-08	23461812	232574924	10624449	11	35056											
FYCO1	79443	broad.mit.edu	37	3	46007981	46007981	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chr3:46007981G>A	ENST00000296137.2	-	8	3050	c.2845C>T	c.(2845-2847)Cgc>Tgc	p.R949C	FYCO1_ENST00000535325.1_Missense_Mutation_p.R949C	NM_024513.3	NP_078789.2	Q9BQS8	FYCO1_HUMAN	FYVE and coiled-coil domain containing 1	949					transport	integral to membrane	metal ion binding|protein binding			NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		GCTACTTGGCGCTCCAGGCCC	0.652													4	93					0	0	1	0	0	A	46007981	G	A	46007981	3	1	435	1	0	0	0	0	1	0	0	0	6160	1087	38	1	1635	1	FYCO1	3	46007981	Missense_Mutation	SNP	G	TCGA-S9-A6WQ-01A-12D-A34A-08		46007981	152014449	12	35057											
SEMA3B	7869	broad.mit.edu	37	3	50308562	50308563	+	RNA	INS	-	-	G			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chr3:50308562_50308563insG	ENST00000418948.1	+	0	728_729							Q13214	SEM3B_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3B						axon guidance|cell-cell signaling	endoplasmic reticulum|extracellular region|membrane	receptor activity			central_nervous_system(2)|kidney(1)|lung(2)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		GAGGATGGCAAGGGGAAGAGTC	0.604													2	4	---	---	---	---						G	50308563	-	G	50308562	6	5	435	0	1	1	1	0	0	0	0	0	14079	72	3	0		0	SEMA3B	3	50308562	RNA	INS	-	TCGA-S9-A6WQ-01A-12D-A34A-08	4300581	50308562	147713868	13	35058											
ATR	545	broad.mit.edu	37	3	142281245	142281245	+	Silent	SNP	C	C	T			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chr3:142281245C>T	ENST00000350721.4	-	4	1120	c.999G>A	c.(997-999)gtG>gtA	p.V333V	ATR_ENST00000383101.3_Silent_p.V333V	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related	333					cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						GCCGCATGAGCACACCGTCTT	0.388								Other conserved DNA damage response genes					4	93					0	0	1	0	0	T	142281245	C	T	142281245	2	4	435	1	0	0	0	0	0	0	0	1	1202	697	25	2		2	ATR	3	142281245	Silent	SNP	C	TCGA-S9-A6WQ-01A-12D-A34A-08	91972683	142281245	55741185	14	35059											
GAR1	54433	broad.mit.edu	37	4	110739221	110739221	+	Missense_Mutation	SNP	A	A	C			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chr4:110739221A>C	ENST00000226796.6	+	3	608	c.344A>C	c.(343-345)gAa>gCa	p.E115A	GAR1_ENST00000394631.3_Missense_Mutation_p.E115A	NM_018983.3	NP_061856.1	Q9NY12	GAR1_HUMAN	GAR1 ribonucleoprotein	115					rRNA processing|snRNA pseudouridine synthesis	box H/ACA snoRNP complex|Cajal body	cation channel activity|pseudouridine synthase activity|snoRNA binding			kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	9						AAAGTGGATGAAATATTTGGA	0.333													31	51					0	0	1	0	0	C	110739221	A	C	110739221	3	2	435	1	0	0	0	0	1	0	0	0	6280	246	9	5	350	5	GAR1	4	110739221	Missense_Mutation	SNP	A	TCGA-S9-A6WQ-01A-12D-A34A-08		110739221	80415055	15	35060											
DCHS2	54798	broad.mit.edu	37	4	155176790	155176790	+	Silent	SNP	G	G	A			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chr4:155176790G>A	ENST00000357232.4	-	21	5456	c.5457C>T	c.(5455-5457)aaC>aaT	p.N1819N		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2		Cadherin 16.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		CAATCAGGCCGTTCAAACCAC	0.408													4	53					0	0	1	0	0	A	155176790	G	A	155176790	2	1	435	1	0	0	0	0	0	0	0	1	4311	1136	40	1		1	DCHS2	4	155176790	Silent	SNP	G	TCGA-S9-A6WQ-01A-12D-A34A-08	44437569	155176790	35977486	16	35061											
RHAG	6005	broad.mit.edu	37	6	49583444	49583444	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chr6:49583444C>T	ENST00000371175.4	-	4	559	c.533G>A	c.(532-534)gGg>gAg	p.G178E	RHAG_ENST00000229810.7_Missense_Mutation_p.G178E	NM_000324.2	NP_000315.2	Q02094	RHAG_HUMAN	Rh-associated glycoprotein	178					carbon dioxide transport|cellular ion homeostasis	integral to plasma membrane	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding			NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	39	Lung NSC(77;0.0255)					AAAGTAGGCCCCAAAGGCATG	0.468													5	69					0	0	1	0	0	T	49583444	C	T	49583444	3	4	435	1	0	0	0	0	1	0	0	0	13365	623	22	2	724	2	RHAG	6	49583444	Missense_Mutation	SNP	C	TCGA-S9-A6WQ-01A-12D-A34A-08		49583444	121531623	17	35062											
SYNE1	23345	broad.mit.edu	37	6	152706891	152706891	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chr6:152706891T>C	ENST00000367255.5	-	55	9171	c.8570A>G	c.(8569-8571)cAt>cGt	p.H2857R	SYNE1_ENST00000448038.1_Missense_Mutation_p.H2864R|SYNE1_ENST00000341594.5_Missense_Mutation_p.H2896R|SYNE1_ENST00000265368.4_Missense_Mutation_p.H2857R|SYNE1_ENST00000423061.1_Missense_Mutation_p.H2864R	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	2857					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CTTTGCTGAATGGAGCCAATC	0.388										HNSCC(10;0.0054)			34	113					0	0	1	0	0	C	152706891	T	C	152706891	3	2	435	1	0	0	0	0	1	0	0	0	15502	1464	51	3	18264	3	SYNE1	6	152706891	Missense_Mutation	SNP	T	TCGA-S9-A6WQ-01A-12D-A34A-08	103123447	152706891	18408176	18	35063											
EGFR	1956	broad.mit.edu	37	7	55270224	55270224	+	Silent	SNP	C	C	T			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chr7:55270224C>T	ENST00000275493.2	+	27	3354	c.3177C>T	c.(3175-3177)ccC>ccT	p.P1059P	EGFR_ENST00000455089.1_Silent_p.P1014P|EGFR_ENST00000454757.2_Silent_p.P1006P|EGFR_ENST00000442591.1_Intron	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	1059	Ser-rich.				activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	AAAGCTGTCCCATCAAGGAAG	0.547		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			5	13					0	0	1	0	0	T	55270224	C	T	55270224	2	4	435	1	0	0	0	0	0	0	0	1	4993	581	21	2		2	EGFR	7	55270224	Silent	SNP	C	TCGA-S9-A6WQ-01A-12D-A34A-08		55270224	103868439	19	35064											
CPA2	1358	broad.mit.edu	37	7	129906767	129906767	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chr7:129906767A>G	ENST00000222481.4	+	1	101	c.46A>G	c.(46-48)Atc>Gtc	p.I16V		NM_001869.2	NP_001860.2	P48052	CBPA2_HUMAN	carboxypeptidase A2 (pancreatic)	16					proteolysis|vacuolar protein catabolic process	extracellular region|vacuole	metallocarboxypeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Melanoma(18;0.0435)					TTTTGGGCATATCTACTGTCT	0.403													20	160					0	0	1	0	0	G	129906767	A	G	129906767	3	3	435	1	0	0	0	0	1	0	0	0	3813	449	16	3	48	3	CPA2	7	129906767	Missense_Mutation	SNP	A	TCGA-S9-A6WQ-01A-12D-A34A-08	74636543	129906767	29231896	20	35065											
LMBR1	64327	broad.mit.edu	37	7	156555850	156555850	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chr7:156555850G>A	ENST00000353442.5	-	7	807	c.571C>T	c.(571-573)Ccc>Tcc	p.P191S	LMBR1_ENST00000359422.4_Missense_Mutation_p.P39S|LMBR1_ENST00000354505.4_Missense_Mutation_p.P191S|LMBR1_ENST00000540390.1_Missense_Mutation_p.P170S	NM_022458.3	NP_071903.2	Q8WVP7	LMBR1_HUMAN	limb development membrane protein 1							integral to membrane	receptor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	18	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.208)		TATAAATAGGGTAGATAGAAC	0.279													4	48					0	0	1	0	0	A	156555850	G	A	156555850	3	1	435	1	0	0	0	0	1	0	0	0	8881	1261	44	2	945	2	LMBR1	7	156555850	Missense_Mutation	SNP	G	TCGA-S9-A6WQ-01A-12D-A34A-08	26649083	156555850	2582813	21	35066											
GLIS3	169792	broad.mit.edu	37	9	3937135	3937135	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chr9:3937135G>A	ENST00000324333.10	-	4	1493	c.1300C>T	c.(1300-1302)Cgg>Tgg	p.R434W	GLIS3_ENST00000381971.3_Missense_Mutation_p.R589W|GLIS3_ENST00000461870.1_5'UTR	NM_152629.3	NP_689842.3	Q8NEA6	GLIS3_HUMAN	GLIS family zinc finger 3	434					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)		GTGTGGCTCCGCAAGTGGATC	0.498													4	109					0	0	1	0	0	A	3937135	G	A	3937135	3	1	435	1	0	0	0	0	1	0	0	0	6489	1086	38	1	1055	1	GLIS3	9	3937135	Missense_Mutation	SNP	G	TCGA-S9-A6WQ-01A-12D-A34A-08		3937135	137276296	22	35067											
EHMT1	79813	broad.mit.edu	37	9	140728828	140728828	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chr9:140728828C>T	ENST00000460843.1	+	26	3595	c.3568C>T	c.(3568-3570)Cgg>Tgg	p.R1190W		NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	1190	SET.				DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		CATCGACGCGCGGTTCTACGG	0.682													12	64					0	0	1	0	0	T	140728828	C	T	140728828	3	4	435	1	0	0	0	0	1	0	0	0	5009	759	27	1	3719	1	EHMT1	9	140728828	Missense_Mutation	SNP	C	TCGA-S9-A6WQ-01A-12D-A34A-08	136791693	140728828	484603	23	35068											
ITPRIP	85450	broad.mit.edu	37	10	106075684	106075684	+	Missense_Mutation	SNP	C	C	G			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chr10:106075684C>G	ENST00000278071.2	-	3	578	c.126G>C	c.(124-126)caG>caC	p.Q42H	ITPRIP_ENST00000358187.2_Missense_Mutation_p.Q42H|ITPRIP_ENST00000337478.1_Missense_Mutation_p.Q42H	NM_033397.2	NP_203755.1	Q8IWB1	IPRI_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein	42						plasma membrane				breast(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(9)|upper_aerodigestive_tract(1)	20						CCTGGTGCGCCTGCATCTTGC	0.657													39	52					0	0	1	0	0	G	106075684	C	G	106075684	3	3	435	1	0	0	0	0	1	0	0	0	7967	680	24	4	1521	4	ITPRIP	10	106075684	Missense_Mutation	SNP	C	TCGA-S9-A6WQ-01A-12D-A34A-08		106075684	29459063	24	35069											
NLRP6	171389	broad.mit.edu	37	11	284541	284541	+	Silent	SNP	C	C	T			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chr11:284541C>T	ENST00000534750.1	+	7	2641	c.2436C>T	c.(2434-2436)gcC>gcT	p.A812A	NLRP6_ENST00000312165.5_Silent_p.A813A	NM_001276700.1	NP_001263629.1	P59044	NALP6_HUMAN	NLR family, pyrin domain containing 6	813						cytoplasm	ATP binding			breast(1)|skin(1)|upper_aerodigestive_tract(2)	4		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)		AGAGCCCTGCCCTGACCACCC	0.672													5	18					0	0	1	0	0	T	284541	C	T	284541	2	4	435	1	0	0	0	0	0	0	0	1	10528	610	22	2		2	NLRP6	11	284541	Silent	SNP	C	TCGA-S9-A6WQ-01A-12D-A34A-08		284541	134721975	25	35070											
OR51F2	119694	broad.mit.edu	37	11	4843026	4843026	+	Missense_Mutation	SNP	T	T	G			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chr11:4843026T>G	ENST00000322110.5	+	1	476	c.411T>G	c.(409-411)ttT>ttG	p.F137L	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001004753.1	NP_001004753.1	Q8NH61	O51F2_HUMAN	olfactory receptor, family 51, subfamily F, member 2	137					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		TTGATCGTTTTGTGGCCATCT	0.453													63	124					0	0	1	0	0	G	4843026	T	G	4843026	3	3	435	1	0	0	0	0	1	0	0	0	11145	1809	63	5	413	5	OR51F2	11	4843026	Missense_Mutation	SNP	T	TCGA-S9-A6WQ-01A-12D-A34A-08	4558485	4843026	130163490	26	35071											
CTR9	9646	broad.mit.edu	37	11	10785379	10785379	+	Missense_Mutation	SNP	T	T	G			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chr11:10785379T>G	ENST00000361367.2	+	9	1573	c.1147T>G	c.(1147-1149)Tct>Gct	p.S383A		NM_014633.3	NP_055448.1	Q6PD62	CTR9_HUMAN	CTR9, Paf1/RNA polymerase II complex component	383					histone H2B ubiquitination|histone monoubiquitination	Cdc73/Paf1 complex|nuclear speck				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|pancreas(1)|stomach(1)	40				all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		AATTCTCGGCTCTCTCTATGC	0.353													25	87					0	0	1	0	0	G	10785379	T	G	10785379	3	3	435	1	0	0	0	0	1	0	0	0	4048	1551	54	5	1181	5	CTR9	11	10785379	Missense_Mutation	SNP	T	TCGA-S9-A6WQ-01A-12D-A34A-08	5942353	10785379	124221137	27	35072											
SSSCA1	10534	broad.mit.edu	37	11	65337966	65337966	+	Missense_Mutation	SNP	G	G	A	rs139666819		TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chr11:65337966G>A	ENST00000526877.1	+	1	9	c.4G>A	c.(4-6)Gcc>Acc	p.A2T	SSSCA1_ENST00000309328.3_Missense_Mutation_p.A2T|SSSCA1_ENST00000527920.1_5'UTR|SSSCA1_ENST00000531405.1_5'UTR			O60232	SSA27_HUMAN	Sjogren syndrome/scleroderma autoantigen 1	2					cell division|mitosis		protein binding			kidney(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	8						CGGCAACATGGCCCTGAACGG	0.677													5	61					0	0	1	0	0	A	65337966	G	A	65337966	3	1	435	1	0	0	0	0	1	0	0	0	15251	1203	42	2	6	2	SSSCA1	11	65337966	Missense_Mutation	SNP	G	TCGA-S9-A6WQ-01A-12D-A34A-08	54552587	65337966	69668550	28	35073											
PELI3	246330	broad.mit.edu	37	11	66243444	66243444	+	Silent	SNP	C	C	T			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chr11:66243444C>T	ENST00000349459.6	+	7	1428	c.1144C>T	c.(1144-1146)Ctg>Ttg	p.L382L	PELI3_ENST00000531856.1_3'UTR|CTD-3074O7.5_ENST00000533502.1_RNA|PELI3_ENST00000320740.7_Silent_p.L406L|CTD-3074O7.5_ENST00000527092.1_RNA	NM_001098510.1	NP_001091980.1	Q8N2H9	PELI3_HUMAN	pellino E3 ubiquitin protein ligase family member 3	406						cytosol	protein binding			breast(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)	15						CGGCCTCTGCCTGGACCCTGG	0.692													15	39					0	0	1	0	0	T	66243444	C	T	66243444	2	4	435	1	0	0	0	0	0	0	0	1	11770	680	24	2		2	PELI3	11	66243444	Silent	SNP	C	TCGA-S9-A6WQ-01A-12D-A34A-08	905478	66243444	68763072	29	35074											
RELT	84957	broad.mit.edu	37	11	73103387	73103387	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chr11:73103387G>A	ENST00000064780.2	+	6	760	c.499G>A	c.(499-501)Gcc>Acc	p.A167T	RELT_ENST00000393580.2_Missense_Mutation_p.A167T	NM_152222.1	NP_689408.1	Q969Z4	TR19L_HUMAN	RELT tumor necrosis factor receptor	167						cytoplasm|integral to membrane|plasma membrane	binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	12						CGCGGTCATCGCCATCGTCCC	0.677													4	30					0	0	1	0	0	A	73103387	G	A	73103387	3	1	435	1	0	0	0	0	1	0	0	0	13273	1087	38	1	517	1	RELT	11	73103387	Missense_Mutation	SNP	G	TCGA-S9-A6WQ-01A-12D-A34A-08	6859943	73103387	61903129	30	35075											
PCBP2	5094	broad.mit.edu	37	12	53849149	53849149	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chr12:53849149G>A	ENST00000603815.1	+	3	438	c.88G>A	c.(88-90)Gga>Aga	p.G30R	PCBP2_ENST00000548933.1_Missense_Mutation_p.G30R|PCBP2_ENST00000546463.1_Missense_Mutation_p.G30R|PCBP2_ENST00000359462.5_Missense_Mutation_p.G30R|PCBP2_ENST00000552296.2_Missense_Mutation_p.G30R|PCBP2_ENST00000552819.1_Missense_Mutation_p.G30R|PCBP2_ENST00000437231.1_Missense_Mutation_p.G30R|PCBP2_ENST00000439930.3_Missense_Mutation_p.G30R|PCBP2_ENST00000359282.5_Missense_Mutation_p.G30R|PCBP2_ENST00000549863.1_Missense_Mutation_p.G30R|PCBP2_ENST00000455667.3_Missense_Mutation_p.G30R|PCBP2_ENST00000447282.1_Missense_Mutation_p.G30R|PCBP2_ENST00000541275.1_Missense_Mutation_p.G30R|RP11-793H13.8_ENST00000547717.1_RNA	NM_001128911.1|NM_001128912.1|NM_005016.5|NM_031989.4	NP_001122383.1|NP_001122384.1|NP_005007.2|NP_114366.1	Q15366	PCBP2_HUMAN	poly(rC) binding protein 2	30	KH 1.				innate immune response|negative regulation of defense response to virus|negative regulation of type I interferon production|nuclear mRNA splicing, via spliceosome|proteasomal ubiquitin-dependent protein catabolic process|response to virus	cytosol|nucleoplasm|ribonucleoprotein complex	DNA binding|RNA binding|ubiquitin protein ligase binding			central_nervous_system(4)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	15						CAGTATCATCGGAAAGGTAAG	0.338													18	37					0	0	1	0	0	A	53849149	G	A	53849149	3	1	435	1	0	0	0	0	1	0	0	0	11548	1117	39	1	94	1	PCBP2	12	53849149	Missense_Mutation	SNP	G	TCGA-S9-A6WQ-01A-12D-A34A-08		53849149	80002746	31	35076											
MGA	23269	broad.mit.edu	37	15	41961363	41961363	+	Nonsense_Mutation	SNP	C	C	T			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chr15:41961363C>T	ENST00000219905.7	+	2	452	c.271C>T	c.(271-273)Cga>Tga	p.R91*	MGA_ENST00000568630.1_Intron|MGA_ENST00000566586.1_Nonsense_Mutation_p.R91*|MGA_ENST00000545763.1_Nonsense_Mutation_p.R91*|MGA_ENST00000389936.4_Nonsense_Mutation_p.R91*|MGA_ENST00000570161.1_Nonsense_Mutation_p.R91*	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN	MGA, MAX dimerization protein	91						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		GTTCTATCATCGAAGCACAGA	0.383													5	88					0	0	1	0	0	T	41961363	C	T	41961363	4	4	435	1	0	0	0	0	0	1	0	0	9590	876	31	1	273	1	MGA	15	41961363	Nonsense_Mutation	SNP	C	TCGA-S9-A6WQ-01A-12D-A34A-08		41961363	60570029	32	35077											
NEO1	4756	broad.mit.edu	37	15	73536774	73536774	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chr15:73536774T>C	ENST00000339362.5	+	10	1988	c.1541T>C	c.(1540-1542)aTg>aCg	p.M514T	NEO1_ENST00000261908.6_Missense_Mutation_p.M514T|NEO1_ENST00000558964.1_Missense_Mutation_p.M514T|NEO1_ENST00000560352.1_3'UTR|NEO1_ENST00000560262.1_Missense_Mutation_p.M514T			Q92859	NEO1_HUMAN	neogenin 1	514	Fibronectin type-III 1.				axon guidance|cell adhesion|positive regulation of muscle cell differentiation	Golgi apparatus|integral to plasma membrane|nucleus				NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	57						TTTAGAGTTATGGCTCAAAAT	0.473													19	58					0	0	1	0	0	C	73536774	T	C	73536774	3	2	435	1	0	0	0	0	1	0	0	0	10383	1464	51	3	1575	3	NEO1	15	73536774	Missense_Mutation	SNP	T	TCGA-S9-A6WQ-01A-12D-A34A-08	31575411	73536774	28994618	33	35078											
RPS2	6187	broad.mit.edu	37	16	2012755	2012755	+	Silent	SNP	G	G	A			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chr16:2012755G>A	ENST00000529806.1	-	3	627	c.441C>T	c.(439-441)ccC>ccT	p.P147P	RPS2_ENST00000526522.1_Intron|RPS2_ENST00000343262.4_Silent_p.P177P|RPS2_ENST00000530225.1_Silent_p.P177P			P15880	RS2_HUMAN	ribosomal protein S2	177	S5 DRBM.				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleoplasm	fibroblast growth factor 1 binding|fibroblast growth factor 3 binding|RNA binding|structural constituent of ribosome			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|urinary_tract(2)	7						GGACAGTGTGGGGCTTGCCGA	0.672													8	12					0	0	1	0	0	A	2012755	G	A	2012755	2	1	435	1	0	0	0	0	0	0	0	1	13683	1219	43	2		2	RPS2	16	2012755	Silent	SNP	G	TCGA-S9-A6WQ-01A-12D-A34A-08		2012755	88341998	34	35079											
SNX20	124460	broad.mit.edu	37	16	50707378	50707378	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chr16:50707378C>T	ENST00000330943.4	-	4	1061	c.890G>A	c.(889-891)cGg>cAg	p.R297Q	SNX20_ENST00000423026.2_Intron|SNX20_ENST00000300590.3_Intron	NM_182854.2	NP_878274.1	Q7Z614	SNX20_HUMAN	sorting nexin 20	297					cell communication|protein transport	endosome membrane|nucleus|plasma membrane	phosphatidylinositol binding|protein binding			kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|skin(2)|stomach(1)	15						CGTGGGCCTCCGGAGCTGGCT	0.667													30	79					0	0	1	0	0	T	50707378	C	T	50707378	3	4	435	1	0	0	0	0	1	0	0	0	14946	652	23	1	207	1	SNX20	16	50707378	Missense_Mutation	SNP	C	TCGA-S9-A6WQ-01A-12D-A34A-08	48694623	50707378	39647375	35	35080											
PSMB10	5699	broad.mit.edu	37	16	67970346	67970346	+	Silent	SNP	A	A	T			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chr16:67970346A>T	ENST00000358514.4	-	2	436	c.99T>A	c.(97-99)ccT>ccA	p.P33P		NM_002801.3	NP_002792.1	P40306	PSB10_HUMAN	proteasome (prosome, macropain) subunit, beta type, 10	33					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|humoral immune response|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex	threonine-type endopeptidase activity			NS(2)|endometrium(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00415)|Epithelial(162;0.0182)|all cancers(182;0.119)		TGCGTGCGTGAGGGACCTTGA	0.637													6	24					0	0	1	0	0	T	67970346	A	T	67970346	2	4	435	1	0	0	0	0	0	0	0	1	12724	291	11	5		5	PSMB10	16	67970346	Silent	SNP	A	TCGA-S9-A6WQ-01A-12D-A34A-08	17262968	67970346	22384407	36	35081											
TP53	7157	broad.mit.edu	37	17	7577102	7577102	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chr17:7577102C>T	ENST00000420246.2	-	8	968	c.836G>A	c.(835-837)gGg>gAg	p.G279E	TP53_ENST00000359597.4_Missense_Mutation_p.G279E|TP53_ENST00000455263.2_Missense_Mutation_p.G279E|TP53_ENST00000269305.4_Missense_Mutation_p.G279E|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.G279E	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	279	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		G -> E (in sporadic cancers; somatic mutation).|G -> R (in sporadic cancers; somatic mutation).|G -> V (in sporadic cancers; somatic mutation).|G -> W (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.G279E(32)|p.0?(8)|p.G279V(4)|p.?(2)|p.G279fs*65(2)|p.A276_R283delACPGRDRR(1)|p.C275fs*20(1)|p.A276fs*64(1)|p.L265_K305del41(1)|p.G279_R280delGR(1)|p.F270_D281del12(1)|p.G279fs*59(1)|p.R280fs*62(1)|p.G279fs*26(1)|p.S269fs*21(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(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)		CCGGTCTCTCCCAGGACAGGC	0.547		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)			7	20					0	0	1	0	0	T	7577102	C	T	7577102	3	4	435	1	0	0	0	0	1	0	0	0	16442	623	22	2	450	2	TP53	17	7577102	Missense_Mutation	SNP	C	TCGA-S9-A6WQ-01A-12D-A34A-08		7577102	73618108	37	35082											
TP53	7157	broad.mit.edu	37	17	7578395	7578395	+	Missense_Mutation	SNP	G	G	C			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chr17:7578395G>C	ENST00000420246.2	-	5	667	c.535C>G	c.(535-537)Cat>Gat	p.H179D	TP53_ENST00000359597.4_Missense_Mutation_p.H179D|TP53_ENST00000455263.2_Missense_Mutation_p.H179D|TP53_ENST00000269305.4_Missense_Mutation_p.H179D|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000413465.2_Missense_Mutation_p.H179D|TP53_ENST00000445888.2_Missense_Mutation_p.H179D	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	179	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).|HH -> QS (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.H179Y(98)|p.H179N(16)|p.H179D(13)|p.P177_C182delPHHERC(8)|p.0?(8)|p.H47Y(6)|p.H86Y(6)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H178_S183delHHERCS(3)|p.R175_E180delRCPHHE(3)|p.P177fs*3(2)|p.V173fs*59(2)|p.R174fs*1(2)|p.H179fs*68(1)|p.C176fs*65(1)|p.C176fs*68(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.H179del(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H46_S51delHHERCS(1)|p.H178fs*6(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.H85_S90delHHERCS(1)|p.H47D(1)|p.R174fs*3(1)|p.H86D(1)|p.H178_H179>QY(1)|p.H47N(1)|p.H86N(1)|p.E171fs*61(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)		CAGCGCTCATGGTGGGGGCAG	0.642		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)			29	45					0	0	1	0	0	C	7578395	G	C	7578395	3	2	435	1	0	0	0	0	1	0	0	0	16442	1348	47	5	763	5	TP53	17	7578395	Missense_Mutation	SNP	G	TCGA-S9-A6WQ-01A-12D-A34A-08	1293	7578395	73616815	38	35083											
ZNF624	57547	broad.mit.edu	37	17	16537944	16537944	+	Splice_Site	SNP	C	C	T			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chr17:16537944C>T	ENST00000311331.7	-	4	371	c.280G>A	c.(280-282)Ggg>Agg	p.G94R	ZNF624_ENST00000579983.1_5'UTR	NM_020787.3	NP_065838.2	Q9P2J8	ZN624_HUMAN	zinc finger protein 624	94	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	26				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		TTATCCTTACCCAGGGAGACC	0.433													21	69					0	0	1	0	0	T	16537944	C	T	16537944	5	4	435	1	0	0	0	0	0	0	1	0	18105	637	22	2	2329	2	ZNF624	17	16537944	Splice_Site	SNP	C	TCGA-S9-A6WQ-01A-12D-A34A-08	8959549	16537944	64657266	39	35084											
UNC45B	146862	broad.mit.edu	37	17	33498419	33498419	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chr17:33498419A>G	ENST00000268876.5	+	13	1871	c.1774A>G	c.(1774-1776)Atc>Gtc	p.I592V	UNC45B_ENST00000591048.1_Missense_Mutation_p.I511V|UNC45B_ENST00000433649.1_Missense_Mutation_p.I590V|UNC45B_ENST00000378449.1_Missense_Mutation_p.I511V|UNC45B_ENST00000394570.2_Missense_Mutation_p.I590V	NM_173167.2	NP_775259.1	Q8IWX7	UN45B_HUMAN	unc-45 homolog B (C. elegans)	592					cell differentiation|muscle organ development	cytosol	binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				CAAGGAGGTCATCCCAGAGCT	0.607											OREG0024327	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	32	63					0	0	1	0	0	G	33498419	A	G	33498419	3	3	435	1	0	0	0	0	1	0	0	0	17049	217	8	3	1820	3	UNC45B	17	33498419	Missense_Mutation	SNP	A	TCGA-S9-A6WQ-01A-12D-A34A-08	16960475	33498419	47696791	40	35085											
TWSG1	57045	broad.mit.edu	37	18	9359985	9359985	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chr18:9359985C>T	ENST00000262120.5	+	3	330	c.139C>T	c.(139-141)Cgg>Tgg	p.R47W	TWSG1_ENST00000581641.1_Missense_Mutation_p.R47W	NM_020648.5	NP_065699.1	Q9GZX9	TWSG1_HUMAN	twisted gastrulation BMP signaling modulator 1	47	Cys-rich.									breast(1)|endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|pancreas(2)	10						CTGCCAGTGCCGGCCGGGAGA	0.448													4	39					0	0	1	0	0	T	9359985	C	T	9359985	3	4	435	1	0	0	0	0	1	0	0	0	16847	643	23	1	145	1	TWSG1	18	9359985	Missense_Mutation	SNP	C	TCGA-S9-A6WQ-01A-12D-A34A-08		9359985	68717263	41	35086											
CCBE1	147372	broad.mit.edu	37	18	57136753	57136753	+	Nonsense_Mutation	SNP	G	G	A			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chr18:57136753G>A	ENST00000439986.4	-	4	389	c.352C>T	c.(352-354)Cga>Tga	p.R118*	CCBE1_ENST00000398179.2_5'UTR	NM_133459.3	NP_597716.1	Q6UXH8	CCBE1_HUMAN	collagen and calcium binding EGF domains 1	118					lymphangiogenesis|sprouting angiogenesis|venous blood vessel morphogenesis	collagen	calcium ion binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(3)	24		Colorectal(73;0.175)				CGGTCATATCGGTATCCCGGA	0.517													54	92					0	0	1	0	0	A	57136753	G	A	57136753	4	1	435	1	0	0	0	0	0	1	0	0	2749	1124	39	1	900	1	CCBE1	18	57136753	Nonsense_Mutation	SNP	G	TCGA-S9-A6WQ-01A-12D-A34A-08	47776768	57136753	20940495	42	35087											
AKAP8	10270	broad.mit.edu	37	19	15472604	15472604	+	Missense_Mutation	SNP	A	A	C			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chr19:15472604A>C	ENST00000269701.2	-	11	1392	c.1332T>G	c.(1330-1332)atT>atG	p.I444M		NM_005858.3	NP_005849.1	O43823	AKAP8_HUMAN	A kinase (PRKA) anchor protein 8	444					signal transduction	nuclear matrix				breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)	26						GCCGCTTCTCAATTTTCTTAT	0.448													15	78					0	0	1	0	0	C	15472604	A	C	15472604	3	2	435	1	0	0	0	0	1	0	0	0	454	126	5	5	762	5	AKAP8	19	15472604	Missense_Mutation	SNP	A	TCGA-S9-A6WQ-01A-12D-A34A-08		15472604	43656379	43	35088											
POLD1	5424	broad.mit.edu	37	19	50910398	50910398	+	Silent	SNP	G	G	A			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chr19:50910398G>A	ENST00000440232.2	+	13	1706	c.1653G>A	c.(1651-1653)caG>caA	p.Q551Q	POLD1_ENST00000599857.1_Silent_p.Q551Q|POLD1_ENST00000595904.1_Silent_p.Q551Q	NM_001256849.1|NM_002691.3	NP_001243778.1|NP_002682.2	P28340	DPOD1_HUMAN	polymerase (DNA directed), delta 1, catalytic subunit	551					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|DNA synthesis involved in DNA repair|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|response to UV|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	delta DNA polymerase complex|nucleoplasm|nucleotide-excision repair complex	3'-5'-exodeoxyribonuclease activity|chromatin binding|DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_neural(266;0.0571)		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)		GTCGTGGCCAGCAGGTCAAGG	0.662								DNA polymerases (catalytic subunits)					11	45					0	0	1	0	0	A	50910398	G	A	50910398	2	1	435	1	0	0	0	0	0	0	0	1	12238	962	34	2		2	POLD1	19	50910398	Silent	SNP	G	TCGA-S9-A6WQ-01A-12D-A34A-08	35437794	50910398	8218585	44	35089											
ZNF347	84671	broad.mit.edu	37	19	53644840	53644840	+	Nonsense_Mutation	SNP	G	G	T			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chr19:53644840G>T	ENST00000452676.2	-	5	1670	c.1244C>A	c.(1243-1245)tCa>tAa	p.S415*	ZNF347_ENST00000334197.7_Nonsense_Mutation_p.S414*|ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000601469.2_Nonsense_Mutation_p.S415*	NM_001172674.1	NP_001166145.1	Q96SE7	ZN347_HUMAN	zinc finger protein 347	414					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		TGTAAGGTGTGAATTTTGAGT	0.428													10	181					1.58986e-06	1.69412e-06	1	1	0	T	53644840	G	T	53644840	4	4	435	1	0	0	0	0	0	1	0	0	17918	1294	45	5	1282	5	ZNF347	19	53644840	Nonsense_Mutation	SNP	G	TCGA-S9-A6WQ-01A-12D-A34A-08	2734442	53644840	5484143	45	35090											
NKX2-2	4821	broad.mit.edu	37	20	21492758	21492759	+	Frame_Shift_Del	DEL	CC	CC	-			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chr20:21492758_21492759delCC	ENST00000377142.4	-	2	980_981	c.624_625delGG	c.(622-627)ttggtcfs	p.LV208fs	NKX2-2-AS1_ENST00000549659.1_RNA	NM_002509.3	NP_002500.1	O95096	NKX22_HUMAN	NK2 homeobox 2	208					brain development|positive regulation of sequence-specific DNA binding transcription factor activity	nucleus	chromatin binding|core promoter proximal region DNA binding|transcription coactivator activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						CCGTCCCTGACCAAGACGGGCA	0.668													11	35	---	---	---	---						-	21492759	CC	-	21492758	7	5	435	1	0	1	0	1	0	0	0	0	10497	507	18	0	200	0	NKX2-2	20	21492758	Frame_Shift_Del	DEL	CC	TCGA-S9-A6WQ-01A-12D-A34A-08		21492758	41532762	46	35091											
TPD52L2	7165	broad.mit.edu	37	20	62500710	62500710	+	Silent	SNP	C	C	T			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chr20:62500710C>T	ENST00000217121.5	+	2	153	c.81C>T	c.(79-81)gtC>gtT	p.V27V	TPD52L2_ENST00000348257.5_Silent_p.V27V|TPD52L2_ENST00000352482.4_Silent_p.V27V|TPD52L2_ENST00000369927.4_Intron|TPD52L2_ENST00000351424.4_Silent_p.V27V|TPD52L2_ENST00000358548.4_Silent_p.V27V|TPD52L2_ENST00000346249.4_Silent_p.V27V	NM_199360.2	NP_955392.1	O43399	TPD54_HUMAN	tumor protein D52-like 2	27					regulation of cell proliferation	perinuclear region of cytoplasm	protein binding|protein homodimerization activity			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8	all_cancers(38;1.3e-12)|all_epithelial(29;2.23e-14)|Lung NSC(23;5.92e-10)|all_lung(23;2.08e-09)					ATGTTCCTGTCGACACAGGTG	0.532													4	109					0	0	1	0	0	T	62500710	C	T	62500710	2	4	435	1	0	0	0	0	0	0	0	1	16460	871	31	1		1	TPD52L2	20	62500710	Silent	SNP	C	TCGA-S9-A6WQ-01A-12D-A34A-08	41007952	62500710	524810	47	35092											
TPTE	7179	broad.mit.edu	37	21	10921985	10921985	+	Silent	SNP	T	T	C			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chr21:10921985T>C	ENST00000298232.7	-	17	1351	c.984A>G	c.(982-984)ggA>ggG	p.G328G	TPTE_ENST00000342420.5_Silent_p.G308G|TPTE_ENST00000361285.4_Silent_p.G346G|TPTE_ENST00000415664.2_5'UTR	NM_199259.2	NP_954868	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	346	Phosphatase tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			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)		AAACCATAGTTCCTGTTCTAT	0.328													7	84					0	0	1	0	0	C	10921985	T	C	10921985	2	2	435	1	0	0	0	0	0	0	0	1	16491	1770	62	3		3	TPTE	21	10921985	Silent	SNP	T	TCGA-S9-A6WQ-01A-12D-A34A-08		10921985	37207910	48	35093											
ADAMTS5	11096	broad.mit.edu	37	21	28296628	28296628	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chr21:28296628C>T	ENST00000284987.5	-	8	2658	c.2537G>A	c.(2536-2538)cGt>cAt	p.R846H	AP001601.2_ENST00000426771.1_RNA	NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	846	Spacer.				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						AAAGCTATAACGGACATCTAA	0.468													8	110					0	0	1	0	0	T	28296628	C	T	28296628	3	4	435	1	0	0	0	0	1	0	0	0	268	536	19	1	259	1	ADAMTS5	21	28296628	Missense_Mutation	SNP	C	TCGA-S9-A6WQ-01A-12D-A34A-08	17374643	28296628	19833267	49	35094											
NOL12	79159	broad.mit.edu	37	22	38084873	38084873	+	Silent	SNP	G	G	C			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chr22:38084873G>C	ENST00000359114.4	+	4	325	c.255G>C	c.(253-255)ctG>ctC	p.L85L	NOL12_ENST00000493862.1_3'UTR	NM_024313.2	NP_077289.1	Q9UGY1	NOL12_HUMAN	nucleolar protein 12	85						nucleolus	rRNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)	8	Melanoma(58;0.0574)					CAGATGAGCTGGACCGGTTGG	0.637													4	95					0	0	1	0	0	C	38084873	G	C	38084873	2	2	435	1	0	0	0	0	0	0	0	1	10569	1335	47	5		5	NOL12	22	38084873	Silent	SNP	G	TCGA-S9-A6WQ-01A-12D-A34A-08		38084873	13219693	50	35095											
ALG12	79087	broad.mit.edu	37	22	50297602	50297602	+	Missense_Mutation	SNP	G	G	T			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chr22:50297602G>T	ENST00000330817.6	-	10	1624	c.1351C>A	c.(1351-1353)Ctg>Atg	p.L451M	CITF22-1A6.3_ENST00000610245.1_lincRNA	NM_024105.3	NP_077010.1	Q9BV10	ALG12_HUMAN	ALG12, alpha-1,6-mannosyltransferase						dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	integral to membrane|intrinsic to endoplasmic reticulum membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(3)	12		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		BRCA - Breast invasive adenocarcinoma(115;0.199)|LUAD - Lung adenocarcinoma(64;0.247)		ACGCTGGCCAGGACCCGGTGT	0.637													3	38					0.115264	0.115264	1	1	0	T	50297602	G	T	50297602	3	4	435	1	0	0	0	0	1	0	0	0	511	991	35	4	119	4	ALG12	22	50297602	Missense_Mutation	SNP	G	TCGA-S9-A6WQ-01A-12D-A34A-08	12212729	50297602	1006964	51	35096											
ERAS	3266	broad.mit.edu	37	X	48687675	48687675	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chrX:48687675G>A	ENST00000338270.1	+	1	393	c.142G>A	c.(142-144)Ggc>Agc	p.G48S		NM_181532.2	NP_853510.1	Q7Z444	RASE_HUMAN	ES cell expressed Ras	48					small GTPase mediated signal transduction	intracellular|plasma membrane	GTP binding|GTPase activity			endometrium(2)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1)	14						TGTGGTGGTGGGCGCCAGTGG	0.642													6	27					0	0	1	0	0	A	48687675	G	A	48687675	3	1	435	1	0	0	0	0	1	0	0	0	5233	1232	43	2	144	2	ERAS	23	48687675	Missense_Mutation	SNP	G	TCGA-S9-A6WQ-01A-12D-A34A-08		48687675	106582885	52	35097											
PIM2	11040	broad.mit.edu	37	X	48772458	48772458	+	Missense_Mutation	SNP	C	C	G			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chrX:48772458C>G	ENST00000376509.4	-	4	623	c.434G>C	c.(433-435)gGc>gCc	p.G145A		NM_006875.3	NP_006866.2	Q9P1W9	PIM2_HUMAN	pim-2 oncogene	145	Protein kinase.				anti-apoptosis|cell proliferation|male meiosis|positive regulation of autophagy|positive regulation of I-kappaB kinase/NF-kappaB cascade|response to virus		ATP binding|protein serine/threonine kinase activity			lung(3)|stomach(1)	4						CACTACTTGGCCAAAGAAGCA	0.572													18	48					0	0	1	0	0	G	48772458	C	G	48772458	3	3	435	1	0	0	0	0	1	0	0	0	11976	739	26	5	513	5	PIM2	23	48772458	Missense_Mutation	SNP	C	TCGA-S9-A6WQ-01A-12D-A34A-08	84783	48772458	106498102	53	35098											
PIM2	11040	broad.mit.edu	37	X	48772535	48772535	+	Silent	SNP	A	A	T			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chrX:48772535A>T	ENST00000376509.4	-	4	546	c.357T>A	c.(355-357)ccT>ccA	p.P119P		NM_006875.3	NP_006866.2	Q9P1W9	PIM2_HUMAN	pim-2 oncogene	119	Protein kinase.				anti-apoptosis|cell proliferation|male meiosis|positive regulation of autophagy|positive regulation of I-kappaB kinase/NF-kappaB cascade|response to virus		ATP binding|protein serine/threonine kinase activity			lung(3)|stomach(1)	4						GGGCGGGCAAAGGCCGCTCGA	0.597													12	30					0	0	1	0	0	T	48772535	A	T	48772535	2	4	435	1	0	0	0	0	0	0	0	1	11976	59	3	5		5	PIM2	23	48772535	Silent	SNP	A	TCGA-S9-A6WQ-01A-12D-A34A-08	77	48772535	106498025	54	35099											
NONO	4841	broad.mit.edu	37	X	70514290	70514290	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chrX:70514290T>C	ENST00000535149.1	+	3	938	c.295T>C	c.(295-297)Tca>Cca	p.S99P	NONO_ENST00000490044.1_3'UTR|NONO_ENST00000373856.3_Missense_Mutation_p.S188P|NONO_ENST00000373841.1_Missense_Mutation_p.S188P|NONO_ENST00000276079.8_Missense_Mutation_p.S188P	NM_001145410.1	NP_001138882.1	Q15233	NONO_HUMAN	non-POU domain containing, octamer-binding	188	DBHS.|RRM 1.				DNA recombination|DNA repair|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	nuclear matrix|paraspeckles	DNA binding|identical protein binding|nucleotide binding|RNA binding		NONO/TFE3(2)	endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	19	Renal(35;0.156)					AGGAAGGCCCTCAGGAAAAGG	0.522			T	TFE3	papillary renal cancer								17	41					0	0	1	0	0	C	70514290	T	C	70514290	3	2	435	1	0	0	0	0	1	0	0	0	10581	1551	54	3	572	3	NONO	23	70514290	Missense_Mutation	SNP	T	TCGA-S9-A6WQ-01A-12D-A34A-08	21741755	70514290	84756270	55	35100											
CDX4	1046	broad.mit.edu	37	X	72667524	72667524	+	Silent	SNP	G	G	A			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chrX:72667524G>A	ENST00000373514.2	+	1	435	c.435G>A	c.(433-435)aaG>aaA	p.K145K		NM_005193.1	NP_005184.1	O14627	CDX4_HUMAN	caudal type homeobox 4	145						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|skin(1)	18	Renal(35;0.156)					GCGCCGCCAAGGCCAGTTCCC	0.637													9	28					0	0	1	0	0	A	72667524	G	A	72667524	2	1	435	1	0	0	0	0	0	0	0	1	3206	991	35	2		2	CDX4	23	72667524	Silent	SNP	G	TCGA-S9-A6WQ-01A-12D-A34A-08	2153234	72667524	82603036	56	35101											
ATRX	546	broad.mit.edu	37	X	76909650	76909659	+	Frame_Shift_Del	DEL	AGCTCCGCTG	AGCTCCGCTG	-			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chrX:76909650_76909659delAGCTCCGCTG	ENST00000373344.5	-	14	4460_4469	c.4246_4255delCAGCGGAGCT	c.(4246-4257)cagcggagctatfs	p.QRSY1416fs	ATRX_ENST00000395603.3_Frame_Shift_Del_p.QRSY1378fs|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1416					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.R1417L(2)|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)	TTCTGTTTATAGCTCCGCTGATTTTCTTCC	0.314			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						17	115	---	---	---	---						-	76909659	AGCTCCGCTG	-	76909650	7	5	435	1	0	1	0	1	0	0	0	0	1206	420	15	0	3311	0	ATRX	23	76909650	Frame_Shift_Del	DEL	AGCTCCGCTG	TCGA-S9-A6WQ-01A-12D-A34A-08	4242126	76909650	78360910	57	35102											
COX7B	1349	broad.mit.edu	37	X	77160727	77160727	+	Missense_Mutation	SNP	G	G	C			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chrX:77160727G>C	ENST00000481445.1	+	3	328	c.212G>C	c.(211-213)aGa>aCa	p.R71T		NM_001866.2	NP_001857.1	P24311	COX7B_HUMAN	cytochrome c oxidase subunit VIIb	71					respiratory electron transport chain	integral to membrane|mitochondrial respiratory chain	cytochrome-c oxidase activity			endometrium(2)	2						CCTGTTGGCAGAGTTACCCCA	0.398													4	119					0	0	1	0	0	C	77160727	G	C	77160727	3	2	435	1	0	0	0	0	1	0	0	0	3805	942	33	4	222	4	COX7B	23	77160727	Missense_Mutation	SNP	G	TCGA-S9-A6WQ-01A-12D-A34A-08	251077	77160727	78109833	58	35103											
PASD1	139135	broad.mit.edu	37	X	150790022	150790022	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chrX:150790022G>A	ENST00000370357.4	+	6	621	c.376G>A	c.(376-378)Gaa>Aaa	p.E126K		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	126						nucleus	signal transducer activity			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					TTCTGCTTACGAAAACGTGAA	0.303													15	32					0	0	1	0	0	A	150790022	G	A	150790022	3	1	435	1	0	0	0	0	1	0	0	0	11518	1059	37	1	394	1	PASD1	23	150790022	Missense_Mutation	SNP	G	TCGA-S9-A6WQ-01A-12D-A34A-08	73629295	150790022	4480538	59	35104											
C1orf158	93190	broad.mit.edu	37	1	12815698	12815698	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A7IQ-01A-21D-A34A-08	TCGA-S9-A7IQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4be007b7-c756-41c7-8f69-bb6f887ba80a	faa5afb2-862d-41bc-8c6f-3e7de955d1a7	g.chr1:12815698T>C	ENST00000288048.5	+	2	376	c.160T>C	c.(160-162)Tac>Cac	p.Y54H	C1orf158_ENST00000376210.3_Intron	NM_152290.2	NP_689503.2	Q8N1D5	CA158_HUMAN	chromosome 1 open reading frame 158	54										central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(1)|ovary(1)|skin(2)|urinary_tract(3)	10	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00575)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		CAGAAAAGAATACATCCCCTT	0.483													24	21					0	0	1	0	0	C	12815698	T	C	12815698	3	2	436	1	0	0	0	0	1	0	0	0	2020	1406	49	3	166	3	C1orf158	1	12815698	Missense_Mutation	SNP	T	TCGA-S9-A7IQ-01A-21D-A34A-08		12815698	236434923	1	35105											
HSPG2	3339	broad.mit.edu	37	1	22163414	22163414	+	Missense_Mutation	SNP	G	G	T			TCGA-S9-A7IQ-01A-21D-A34A-08	TCGA-S9-A7IQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4be007b7-c756-41c7-8f69-bb6f887ba80a	faa5afb2-862d-41bc-8c6f-3e7de955d1a7	g.chr1:22163414G>T	ENST00000374695.3	-	75	10315	c.10236C>A	c.(10234-10236)agC>agA	p.S3412R		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	3412	Ig-like C2-type 20.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	TGGCCCCAATGCTCTTGGTCT	0.662													2	2					1	1	1	1	0	T	22163414	G	T	22163414	3	4	436	1	0	0	0	0	1	0	0	0	7474	1310	46	5	3031	5	HSPG2	1	22163414	Missense_Mutation	SNP	G	TCGA-S9-A7IQ-01A-21D-A34A-08	9347716	22163414	227087207	2	35106											
ROCK2	9475	broad.mit.edu	37	2	11427813	11427813	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A7IQ-01A-21D-A34A-08	TCGA-S9-A7IQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4be007b7-c756-41c7-8f69-bb6f887ba80a	faa5afb2-862d-41bc-8c6f-3e7de955d1a7	g.chr2:11427813T>C	ENST00000315872.6	-	2	639	c.191A>G	c.(190-192)aAa>aGa	p.K64R	ROCK2_ENST00000462366.1_5'UTR	NM_004850.3	NP_004841.2	O75116	ROCK2_HUMAN	Rho-associated, coiled-coil containing protein kinase 2	64					axon guidance|cytokinesis|intracellular signal transduction	cytosol|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|structural molecule activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2)	43	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)		GTTCTTGTTTTTCCTCAAAGC	0.274													16	32					0	0	1	0	0	C	11427813	T	C	11427813	3	2	436	1	0	0	0	0	1	0	0	0	13570	1841	64	3	4103	3	ROCK2	2	11427813	Missense_Mutation	SNP	T	TCGA-S9-A7IQ-01A-21D-A34A-08		11427813	231771560	3	35107											
PREB	10113	broad.mit.edu	37	2	27356048	27356048	+	Silent	SNP	G	G	A			TCGA-S9-A7IQ-01A-21D-A34A-08	TCGA-S9-A7IQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4be007b7-c756-41c7-8f69-bb6f887ba80a	faa5afb2-862d-41bc-8c6f-3e7de955d1a7	g.chr2:27356048G>A	ENST00000260643.2	-	3	736	c.483C>T	c.(481-483)tgC>tgT	p.C161C	PREB_ENST00000416802.1_5'UTR|PREB_ENST00000406567.3_Silent_p.C161C	NM_013388.4	NP_037520.1	Q9HCU5	PREB_HUMAN	prolactin regulatory element binding	161					COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane|nucleus	DNA binding|guanyl-nucleotide exchange factor activity|protein binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CGTGGTTGAAGCACACAACTT	0.542													6	220					0	0	1	0	0	A	27356048	G	A	27356048	2	1	436	1	0	0	0	0	0	0	0	1	12522	963	34	2		2	PREB	2	27356048	Silent	SNP	G	TCGA-S9-A7IQ-01A-21D-A34A-08	15928235	27356048	215843325	4	35108											
WDR12	55759	broad.mit.edu	37	2	203772675	203772675	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A7IQ-01A-21D-A34A-08	TCGA-S9-A7IQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4be007b7-c756-41c7-8f69-bb6f887ba80a	faa5afb2-862d-41bc-8c6f-3e7de955d1a7	g.chr2:203772675C>T	ENST00000261015.4	-	2	798	c.49G>A	c.(49-51)Gta>Ata	p.V17I	WDR12_ENST00000477723.1_5'UTR	NM_018256.3	NP_060726.3	Q9GZL7	WDR12_HUMAN	WD repeat domain 12						cell proliferation|maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	nucleoplasm|PeBoW complex|preribosome, large subunit precursor	protein binding			endometrium(3)|large_intestine(1)|liver(1)|lung(6)|prostate(1)|skin(1)	13						ACATCATCTACGGCATATCTA	0.338													7	42					0	0	1	0	0	T	203772675	C	T	203772675	3	4	436	1	0	0	0	0	1	0	0	0	17334	536	19	1	1270	1	WDR12	2	203772675	Missense_Mutation	SNP	C	TCGA-S9-A7IQ-01A-21D-A34A-08	176416627	203772675	39426698	5	35109											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-S9-A7IQ-01A-21D-A34A-08	TCGA-S9-A7IQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4be007b7-c756-41c7-8f69-bb6f887ba80a	faa5afb2-862d-41bc-8c6f-3e7de955d1a7	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								20	88					0	0	1	0	0	T	209113112	C	T	209113112	3	4	436	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-S9-A7IQ-01A-21D-A34A-08	5340437	209113112	34086261	6	35110											
SLMAP	7871	broad.mit.edu	37	3	57847745	57847745	+	Silent	SNP	T	T	C			TCGA-S9-A7IQ-01A-21D-A34A-08	TCGA-S9-A7IQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4be007b7-c756-41c7-8f69-bb6f887ba80a	faa5afb2-862d-41bc-8c6f-3e7de955d1a7	g.chr3:57847745T>C	ENST00000383718.3	+	9	996	c.898T>C	c.(898-900)Tta>Cta	p.L300L	SLMAP_ENST00000449503.2_Silent_p.L300L|SLMAP_ENST00000295951.3_Silent_p.L300L|SLMAP_ENST00000416870.1_5'UTR|SLMAP_ENST00000295952.3_Silent_p.L300L|SLMAP_ENST00000428312.1_Silent_p.L300L			Q14BN4	SLMAP_HUMAN	sarcolemma associated protein	300					muscle contraction|protein folding	integral to plasma membrane|microtubule organizing center|prefoldin complex|sarcolemma|smooth endoplasmic reticulum	unfolded protein binding			endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(2)	18				BRCA - Breast invasive adenocarcinoma(55;0.000271)|KIRC - Kidney renal clear cell carcinoma(284;0.0602)|Kidney(284;0.0754)|OV - Ovarian serous cystadenocarcinoma(275;0.182)		TCAGGAAGAATTAAGAGAATT	0.313													4	187					0	0	1	0	0	C	57847745	T	C	57847745	2	2	436	1	0	0	0	0	0	0	0	1	14803	1490	52	3		3	SLMAP	3	57847745	Silent	SNP	T	TCGA-S9-A7IQ-01A-21D-A34A-08		57847745	140174685	7	35111											
QRFPR	84109	broad.mit.edu	37	4	122250653	122250653	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A7IQ-01A-21D-A34A-08	TCGA-S9-A7IQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4be007b7-c756-41c7-8f69-bb6f887ba80a	faa5afb2-862d-41bc-8c6f-3e7de955d1a7	g.chr4:122250653C>T	ENST00000394427.2	-	6	1523	c.1112G>A	c.(1111-1113)cGg>cAg	p.R371Q	QRFPR_ENST00000334383.5_3'UTR	NM_198179.2	NP_937822.2	Q96P65	QRFPR_HUMAN	pyroglutamylated RFamide peptide receptor	371						plasma membrane	neuropeptide Y receptor activity			endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(2)|skin(3)|stomach(1)	28						TGCTTTCTTCCGCATCATTGT	0.378													6	189					0	0	1	0	0	T	122250653	C	T	122250653	3	4	436	1	0	0	0	0	1	0	0	0	12930	652	23	1	187	1	QRFPR	4	122250653	Missense_Mutation	SNP	C	TCGA-S9-A7IQ-01A-21D-A34A-08		122250653	68903623	8	35112											
CPNE5	57699	broad.mit.edu	37	6	36711479	36711479	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A7IQ-01A-21D-A34A-08	TCGA-S9-A7IQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4be007b7-c756-41c7-8f69-bb6f887ba80a	faa5afb2-862d-41bc-8c6f-3e7de955d1a7	g.chr6:36711479C>T	ENST00000244751.2	-	20	2174	c.1550G>A	c.(1549-1551)cGc>cAc	p.R517H	CPNE5_ENST00000393189.2_Missense_Mutation_p.R225H|CPNE5_ENST00000459703.1_5'UTR	NM_020939.1	NP_065990.1	Q9HCH3	CPNE5_HUMAN	copine V	517	VWFA.									central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(4)|liver(1)|lung(9)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						GACGATGTCGCGTTCAGCCAG	0.642													10	107					0	0	1	0	0	T	36711479	C	T	36711479	3	4	436	1	0	0	0	0	1	0	0	0	3838	768	27	1	239	1	CPNE5	6	36711479	Missense_Mutation	SNP	C	TCGA-S9-A7IQ-01A-21D-A34A-08		36711479	134403588	9	35113											
DCBLD1	285761	broad.mit.edu	37	6	117859903	117859903	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A7IQ-01A-21D-A34A-08	TCGA-S9-A7IQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4be007b7-c756-41c7-8f69-bb6f887ba80a	faa5afb2-862d-41bc-8c6f-3e7de955d1a7	g.chr6:117859903A>G	ENST00000338728.5	+	8	1001	c.881A>G	c.(880-882)gAc>gGc	p.D294G	DCBLD1_ENST00000368503.4_Intron|GOPC_ENST00000467125.1_Intron|DCBLD1_ENST00000296955.8_Missense_Mutation_p.D294G			Q8N8Z6	DCBD1_HUMAN	discoidin, CUB and LCCL domain containing 1	294	F5/8 type C.				cell adhesion	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	26		all_cancers(87;0.171)		GBM - Glioblastoma multiforme(226;0.0447)|OV - Ovarian serous cystadenocarcinoma(136;0.0921)|all cancers(137;0.125)		CGACTTCAGGACCAAGGCCCA	0.527													15	44					0	0	1	0	0	G	117859903	A	G	117859903	3	3	436	1	0	0	0	0	1	0	0	0	4303	275	10	3	911	3	DCBLD1	6	117859903	Missense_Mutation	SNP	A	TCGA-S9-A7IQ-01A-21D-A34A-08	81148424	117859903	53255164	10	35114											
SCRN1	9805	broad.mit.edu	37	7	29994961	29994961	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A7IQ-01A-21D-A34A-08	TCGA-S9-A7IQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4be007b7-c756-41c7-8f69-bb6f887ba80a	faa5afb2-862d-41bc-8c6f-3e7de955d1a7	g.chr7:29994961T>C	ENST00000426154.1	-	3	351	c.175A>G	c.(175-177)Atc>Gtc	p.I59V	SCRN1_ENST00000242059.5_Missense_Mutation_p.I59V|SCRN1_ENST00000425819.2_5'UTR|SCRN1_ENST00000434476.2_Missense_Mutation_p.I79V|SCRN1_ENST00000494620.1_5'UTR|SCRN1_ENST00000409570.1_Missense_Mutation_p.I59V|SCRN1_ENST00000409497.1_Missense_Mutation_p.I59V	NM_001145513.1	NP_001138985.1	Q12765	SCRN1_HUMAN	secernin 1	59					exocytosis|proteolysis	cytoplasm|nuclear membrane	dipeptidase activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|ovary(2)|prostate(2)|skin(2)	25						ACTTGGTCGATTGAAATGTAA	0.473													6	84					0	0	1	0	0	C	29994961	T	C	29994961	3	2	436	1	0	0	0	0	1	0	0	0	13992	1493	52	3	1093	3	SCRN1	7	29994961	Missense_Mutation	SNP	T	TCGA-S9-A7IQ-01A-21D-A34A-08		29994961	129143702	11	35115											
PILRB	29990	broad.mit.edu	37	7	99956381	99956381	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A7IQ-01A-21D-A34A-08	TCGA-S9-A7IQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4be007b7-c756-41c7-8f69-bb6f887ba80a	faa5afb2-862d-41bc-8c6f-3e7de955d1a7	g.chr7:99956381A>G	ENST00000610247.1	+	16	2629	c.133A>G	c.(133-135)Atg>Gtg	p.M45V	PILRB_ENST00000444073.1_Missense_Mutation_p.M45V|PILRB_ENST00000452089.1_Missense_Mutation_p.M45V|PILRB_ENST00000609309.1_Missense_Mutation_p.M45V|STAG3L5P-PVRIG2P-PILRB_ENST00000310771.4_RNA|PILRB_ENST00000448382.1_Intron			Q9UKJ0	PILRB_HUMAN	paired immunoglobin-like type 2 receptor beta		Ig-like V-type.				activation of transmembrane receptor protein tyrosine kinase activity	integral to plasma membrane	protein binding|receptor activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	13	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CTCAGCCTCCATGGGTGGCTC	0.552													4	78					0	0	1	0	0	G	99956381	A	G	99956381	3	3	436	1	0	0	0	0	1	0	0	0	11974	217	8	3	139	3	PILRB	7	99956381	Missense_Mutation	SNP	A	TCGA-S9-A7IQ-01A-21D-A34A-08	69961420	99956381	59182282	12	35116											
FOXP2	93986	broad.mit.edu	37	7	114269973	114269973	+	Silent	SNP	A	A	G	rs149757187		TCGA-S9-A7IQ-01A-21D-A34A-08	TCGA-S9-A7IQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4be007b7-c756-41c7-8f69-bb6f887ba80a	faa5afb2-862d-41bc-8c6f-3e7de955d1a7	g.chr7:114269973A>G	ENST00000393500.3	+	11	1105	c.285A>G	c.(283-285)caA>caG	p.Q95Q	FOXP2_ENST00000393489.3_Silent_p.Q78Q|FOXP2_ENST00000378237.3_Silent_p.Q170Q|AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000390668.3_Silent_p.Q194Q|FOXP2_ENST00000350908.4_Silent_p.Q170Q|FOXP2_ENST00000393498.2_Silent_p.Q150Q|FOXP2_ENST00000393491.3_Silent_p.Q78Q|FOXP2_ENST00000393494.2_Silent_p.Q170Q|FOXP2_ENST00000408937.3_Silent_p.Q195Q|FOXP2_ENST00000403559.4_Silent_p.Q187Q|FOXP2_ENST00000360232.4_Silent_p.Q170Q			O15409	FOXP2_HUMAN	forkhead box P2	170	Gln-rich.				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding	p.Q195Q(1)		breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						agcagcagcaacaacaacaac	0.502													3	76					0	0	1	0	0	G	114269973	A	G	114269973	2	3	436	1	0	0	0	0	0	0	0	1	6061	40	2	3		3	FOXP2	7	114269973	Silent	SNP	A	TCGA-S9-A7IQ-01A-21D-A34A-08	14313592	114269973	44868690	13	35117											
PUF60	22827	broad.mit.edu	37	8	144898893	144898893	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A7IQ-01A-21D-A34A-08	TCGA-S9-A7IQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4be007b7-c756-41c7-8f69-bb6f887ba80a	faa5afb2-862d-41bc-8c6f-3e7de955d1a7	g.chr8:144898893C>T	ENST00000526683.1	-	12	2032	c.1477G>A	c.(1477-1479)Gtg>Atg	p.V493M	PUF60_ENST00000456095.2_Missense_Mutation_p.V464M|PUF60_ENST00000453551.2_Missense_Mutation_p.V450M|PUF60_ENST00000527197.1_Missense_Mutation_p.V447M|PUF60_ENST00000349157.6_Missense_Mutation_p.V476M|PUF60_ENST00000313352.7_Missense_Mutation_p.V433M	NM_001271098.1|NM_078480.2	NP_001258027.1|NP_510965.1	Q9UHX1	PUF60_HUMAN	poly-U binding splicing factor 60KDa	493	Inhibits homodimerization.|Inhibits transcriptional repression, interaction with ERCC3 and apoptosis induction.|RRM 3; atypical.				apoptosis|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	nucleus|ribonucleoprotein complex	DNA binding|nucleotide binding|protein binding|RNA binding	p.V493M(1)		NS(1)|endometrium(1)|kidney(3)|lung(7)|prostate(2)	14	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;6.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			ACGCGGTTCACGGCCCCGAAC	0.517													4	211					0	0	1	0	0	T	144898893	C	T	144898893	3	4	436	1	0	0	0	0	1	0	0	0	12876	536	19	1	206	1	PUF60	8	144898893	Missense_Mutation	SNP	C	TCGA-S9-A7IQ-01A-21D-A34A-08		144898893	1465129	14	35118											
AGTPBP1	23287	broad.mit.edu	37	9	88201794	88201794	+	Silent	SNP	A	A	G			TCGA-S9-A7IQ-01A-21D-A34A-08	TCGA-S9-A7IQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4be007b7-c756-41c7-8f69-bb6f887ba80a	faa5afb2-862d-41bc-8c6f-3e7de955d1a7	g.chr9:88201794A>G	ENST00000357081.3	-	22	3129	c.2985T>C	c.(2983-2985)caT>caC	p.H995H	AGTPBP1_ENST00000376109.3_Silent_p.H1007H|AGTPBP1_ENST00000376083.3_Silent_p.H955H|AGTPBP1_ENST00000432218.1_Intron|AGTPBP1_ENST00000337006.4_3'UTR			Q9UPW5	CBPC1_HUMAN	ATP/GTP binding protein 1	995					C-terminal protein deglutamylation|cerebellar Purkinje cell differentiation|eye photoreceptor cell differentiation|mitochondrion organization|neuromuscular process|olfactory bulb development|protein side chain deglutamylation|proteolysis	cytosol|mitochondrion|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(12)|ovary(5)|skin(2)|urinary_tract(3)	44						GCCCCTTAGCATGGTAAATTG	0.393													4	136					0	0	1	0	0	G	88201794	A	G	88201794	2	3	436	1	0	0	0	0	0	0	0	1	397	214	8	3		3	AGTPBP1	9	88201794	Silent	SNP	A	TCGA-S9-A7IQ-01A-21D-A34A-08		88201794	53011637	15	35119											
KIAA1958	158405	broad.mit.edu	37	9	115421658	115421658	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7IQ-01A-21D-A34A-08	TCGA-S9-A7IQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4be007b7-c756-41c7-8f69-bb6f887ba80a	faa5afb2-862d-41bc-8c6f-3e7de955d1a7	g.chr9:115421658G>A	ENST00000337530.6	+	4	1756	c.1460G>A	c.(1459-1461)cGc>cAc	p.R487H	KIAA1958_ENST00000536272.1_Missense_Mutation_p.R515H	NM_133465.2	NP_597722.1	Q8N8K9	K1958_HUMAN	KIAA1958	487								p.R487H(1)		endometrium(1)|large_intestine(9)|lung(10)|prostate(2)|skin(3)	25						GGCCTGGACCGCATCCTGAAG	0.557													3	54					0	0	1	0	0	A	115421658	G	A	115421658	3	1	436	1	0	0	0	0	1	0	0	0	8306	1087	38	1	1470	1	KIAA1958	9	115421658	Missense_Mutation	SNP	G	TCGA-S9-A7IQ-01A-21D-A34A-08	27219864	115421658	25791773	16	35120											
LRRC43	254050	broad.mit.edu	37	12	122674761	122674761	+	Silent	SNP	C	C	T			TCGA-S9-A7IQ-01A-21D-A34A-08	TCGA-S9-A7IQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4be007b7-c756-41c7-8f69-bb6f887ba80a	faa5afb2-862d-41bc-8c6f-3e7de955d1a7	g.chr12:122674761C>T	ENST00000339777.4	+	5	775	c.747C>T	c.(745-747)caC>caT	p.H249H	LRRC43_ENST00000425921.1_Silent_p.H64H	NM_152759.4	NP_689972.3	Q8N309	LRC43_HUMAN	leucine rich repeat containing 43	249										NS(1)|endometrium(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(2)	19	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225)		CCCTCCGGCACCTGCGACTCC	0.652													10	83					0	0	1	0	0	T	122674761	C	T	122674761	2	4	436	1	0	0	0	0	0	0	0	1	9046	506	18	2		2	LRRC43	12	122674761	Silent	SNP	C	TCGA-S9-A7IQ-01A-21D-A34A-08		122674761	11177134	17	35121											
GPR132	29933	broad.mit.edu	37	14	105518118	105518118	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7IQ-01A-21D-A34A-08	TCGA-S9-A7IQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4be007b7-c756-41c7-8f69-bb6f887ba80a	faa5afb2-862d-41bc-8c6f-3e7de955d1a7	g.chr14:105518118G>A	ENST00000329797.3	-	4	1267	c.356C>T	c.(355-357)gCc>gTc	p.A119V	GPR132_ENST00000539291.2_Missense_Mutation_p.A119V|GPR132_ENST00000546679.1_5'UTR|GPR132_ENST00000392585.2_Missense_Mutation_p.A110V	NM_001278694.1|NM_001278696.1|NM_013345.2	NP_001265623.1|NP_001265625.1|NP_037477.1	Q9UNW8	GP132_HUMAN	G protein-coupled receptor 132	119					response to stress	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	18		all_cancers(154;0.0953)|Melanoma(154;0.155)|all_epithelial(191;0.219)	OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227)	Epithelial(152;0.02)|all cancers(159;0.0419)|OV - Ovarian serous cystadenocarcinoma(161;0.0521)		GAAGATGTAGGCGGTCACCTT	0.612													27	163					0	0	1	0	0	A	105518118	G	A	105518118	3	1	436	1	0	0	0	0	1	0	0	0	6682	1203	42	2	790	2	GPR132	14	105518118	Missense_Mutation	SNP	G	TCGA-S9-A7IQ-01A-21D-A34A-08		105518118	1831422	18	35122											
SPTBN5	51332	broad.mit.edu	37	15	42182318	42182318	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A7IQ-01A-21D-A34A-08	TCGA-S9-A7IQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4be007b7-c756-41c7-8f69-bb6f887ba80a	faa5afb2-862d-41bc-8c6f-3e7de955d1a7	g.chr15:42182318C>T	ENST00000320955.6	-	4	697	c.470G>A	c.(469-471)cGt>cAt	p.R157H		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	157	Actin-binding.|CH 1.				actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		GATCTGGAAACGCAGAATGAT	0.592													4	6					0	0	1	0	0	T	42182318	C	T	42182318	3	4	436	1	0	0	0	0	1	0	0	0	15178	536	19	1	10814	1	SPTBN5	15	42182318	Missense_Mutation	SNP	C	TCGA-S9-A7IQ-01A-21D-A34A-08		42182318	60349074	19	35123											
NR2F2	7026	broad.mit.edu	37	15	96877599	96877599	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7IQ-01A-21D-A34A-08	TCGA-S9-A7IQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4be007b7-c756-41c7-8f69-bb6f887ba80a	faa5afb2-862d-41bc-8c6f-3e7de955d1a7	g.chr15:96877599G>A	ENST00000394166.3	+	2	2126	c.737G>A	c.(736-738)cGc>cAc	p.R246H	NR2F2_ENST00000421109.2_Missense_Mutation_p.R113H|NR2F2_ENST00000453270.2_Missense_Mutation_p.R93H|NR2F2_ENST00000394171.2_Missense_Mutation_p.R93H	NM_021005.3	NP_066285.1	P24468	COT2_HUMAN	nuclear receptor subfamily 2, group F, member 2	246	Interaction with ZFPM2 (By similarity).|Ligand-binding (By similarity).				lipid metabolic process|negative regulation of cyclin-dependent protein kinase activity|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment	nucleus	ligand-regulated transcription factor activity|protein homodimerization activity|retinoic acid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription corepressor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(2)|lung(3)|ovary(2)|urinary_tract(1)	17	Lung NSC(78;0.0186)|Melanoma(26;0.0195)|all_lung(78;0.0297)		OV - Ovarian serous cystadenocarcinoma(32;0.0856)			GCCCTGCTTCGCCTCACCTGG	0.682													15	88					0	0	1	0	0	A	96877599	G	A	96877599	3	1	436	1	0	0	0	0	1	0	0	0	10676	1087	38	1	790	1	NR2F2	15	96877599	Missense_Mutation	SNP	G	TCGA-S9-A7IQ-01A-21D-A34A-08	54695281	96877599	5653793	20	35124											
OTOA	146183	broad.mit.edu	37	16	21689897	21689897	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A7IQ-01A-21D-A34A-08	TCGA-S9-A7IQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4be007b7-c756-41c7-8f69-bb6f887ba80a	faa5afb2-862d-41bc-8c6f-3e7de955d1a7	g.chr16:21689897C>T	ENST00000388958.3	+	1	63	c.62C>T	c.(61-63)tCg>tTg	p.S21L	OTOA_ENST00000286149.4_Missense_Mutation_p.S21L	NM_144672.3	NP_653273.3	Q7RTW8	OTOAN_HUMAN	otoancorin	21					sensory perception of sound	anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46				GBM - Glioblastoma multiforme(48;0.0414)		CATGGAGTGTCGAGTTATACA	0.428													8	103					0	0	1	0	0	T	21689897	C	T	21689897	3	4	436	1	0	0	0	0	1	0	0	0	11349	893	31	1	64	1	OTOA	16	21689897	Missense_Mutation	SNP	C	TCGA-S9-A7IQ-01A-21D-A34A-08		21689897	68664856	21	35125											
ANKFY1	51479	broad.mit.edu	37	17	4098228	4098228	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7IQ-01A-21D-A34A-08	TCGA-S9-A7IQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4be007b7-c756-41c7-8f69-bb6f887ba80a	faa5afb2-862d-41bc-8c6f-3e7de955d1a7	g.chr17:4098228G>A	ENST00000433651.1	-	10	1454	c.1417C>T	c.(1417-1419)Cgc>Tgc	p.R473C	ANKFY1_ENST00000574367.1_Intron|ANKFY1_ENST00000341657.4_Intron|ANKFY1_ENST00000570535.1_Intron			Q9P2R3	ANFY1_HUMAN	ankyrin repeat and FYVE domain containing 1	0						endosome membrane	metal ion binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|liver(1)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						ATTTCCTGGCGCCTGCAGACC	0.502													6	13					0	0	1	0	0	A	4098228	G	A	4098228	3	1	436	1	0	0	0	0	1	0	0	0	622	1087	38	1	2251	1	ANKFY1	17	4098228	Missense_Mutation	SNP	G	TCGA-S9-A7IQ-01A-21D-A34A-08		4098228	77096982	22	35126											
CDK12	51755	broad.mit.edu	37	17	37618565	37618566	+	Frame_Shift_Ins	INS	-	-	AC			TCGA-S9-A7IQ-01A-21D-A34A-08	TCGA-S9-A7IQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4be007b7-c756-41c7-8f69-bb6f887ba80a	faa5afb2-862d-41bc-8c6f-3e7de955d1a7	g.chr17:37618565_37618566insAC	ENST00000447079.4	+	1	274_275	c.241_242insAC	c.(241-243)gacfs	p.D81fs	CDK12_ENST00000430627.2_Frame_Shift_Ins_p.D81fs	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	81					mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						CTCTGATTCCGACACCTTCTCC	0.53			"Mis, N, F"		serous ovarian					TCGA Ovarian(9;0.13)			10	55	---	---	---	---						AC	37618566	-	AC	37618565	7	5	436	1	0	1	1	0	0	0	0	0	3150	1058	37	0	243	0	CDK12	17	37618565	Frame_Shift_Ins	INS	-	TCGA-S9-A7IQ-01A-21D-A34A-08	33520337	37618565	43576645	23	35127											
DSG1	1828	broad.mit.edu	37	18	28934983	28934983	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7IQ-01A-21D-A34A-08	TCGA-S9-A7IQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4be007b7-c756-41c7-8f69-bb6f887ba80a	faa5afb2-862d-41bc-8c6f-3e7de955d1a7	g.chr18:28934983G>A	ENST00000257192.4	+	15	3036	c.2824G>A	c.(2824-2826)Gag>Aag	p.E942K	RP11-534N16.1_ENST00000581452.1_RNA|DSG1_ENST00000462981.2_Missense_Mutation_p.E301K|RP11-534N16.1_ENST00000578477.1_RNA|RP11-534N16.1_ENST00000581856.1_RNA	NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	942					calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			TATGCACCCCGAGTTAGCCAA	0.488													16	236					0	0	1	0	0	A	28934983	G	A	28934983	3	1	436	1	0	0	0	0	1	0	0	0	4802	1059	37	1	2882	1	DSG1	18	28934983	Missense_Mutation	SNP	G	TCGA-S9-A7IQ-01A-21D-A34A-08		28934983	49142265	24	35128											
FBN3	84467	broad.mit.edu	37	19	8160343	8160343	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A7IQ-01A-21D-A34A-08	TCGA-S9-A7IQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4be007b7-c756-41c7-8f69-bb6f887ba80a	faa5afb2-862d-41bc-8c6f-3e7de955d1a7	g.chr19:8160343C>T	ENST00000600128.1	-	46	6115	c.5701G>A	c.(5701-5703)Ggc>Agc	p.G1901S	FBN3_ENST00000601739.1_Missense_Mutation_p.G1901S|FBN3_ENST00000270509.2_Missense_Mutation_p.G1901S			Q75N90	FBN3_HUMAN	fibrillin 3	1901	EGF-like 30; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						AGGCAATGGCCAAATCGGCAC	0.542													10	36					0	0	1	0	0	T	8160343	C	T	8160343	3	4	436	1	0	0	0	0	1	0	0	0	5737	594	21	2	2804	2	FBN3	19	8160343	Missense_Mutation	SNP	C	TCGA-S9-A7IQ-01A-21D-A34A-08		8160343	50968640	25	35129											
CKM	1158	broad.mit.edu	37	19	45810787	45810787	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7IQ-01A-21D-A34A-08	TCGA-S9-A7IQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4be007b7-c756-41c7-8f69-bb6f887ba80a	faa5afb2-862d-41bc-8c6f-3e7de955d1a7	g.chr19:45810787G>A	ENST00000221476.3	-	7	1073	c.899C>T	c.(898-900)gCg>gTg	p.A300V		NM_001824.4	NP_001815.2	P06732	KCRM_HUMAN	creatine kinase, muscle	300	Phosphagen kinase C-terminal.				creatine metabolic process	cytosol	ATP binding|creatine kinase activity			cervix(1)|endometrium(1)|large_intestine(8)|lung(3)|prostate(2)|skin(2)	17		Ovarian(192;0.0336)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;2.29e-44)|Epithelial(262;1.05e-38)|GBM - Glioblastoma multiforme(486;3.56e-07)	Creatine(DB00148)	GCTCAGGTGCGCCAGCTTCAC	0.637													9	19					0	0	1	0	0	A	45810787	G	A	45810787	3	1	436	1	0	0	0	0	1	0	0	0	3471	1087	38	1	254	1	CKM	19	45810787	Missense_Mutation	SNP	G	TCGA-S9-A7IQ-01A-21D-A34A-08	37650444	45810787	13318196	26	35130											
PDHA1	5160	broad.mit.edu	37	X	19377663	19377663	+	Silent	SNP	C	C	T			TCGA-S9-A7IQ-01A-21D-A34A-08	TCGA-S9-A7IQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4be007b7-c756-41c7-8f69-bb6f887ba80a	faa5afb2-862d-41bc-8c6f-3e7de955d1a7	g.chrX:19377663C>T	ENST00000379806.5	+	12	1324	c.1179C>T	c.(1177-1179)gcC>gcT	p.A393A	PDHA1_ENST00000379804.1_Silent_p.A74A|PDHA1_ENST00000422285.2_Silent_p.A355A|PDHA1_ENST00000540249.1_Silent_p.A324A|PDHA1_ENST00000545074.1_Silent_p.A362A|PDHA1_ENST00000478795.1_3'UTR	NM_001173454.1	NP_001166925.1	P08559	ODPA_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 1	355					glycolysis|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	protein binding|pyruvate dehydrogenase (acetyl-transferring) activity			endometrium(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)	18	Hepatocellular(33;0.183)				NADH(DB00157)	TTGCCACGGCCGATCCTGAGC	0.468													4	113					0	0	1	0	0	T	19377663	C	T	19377663	2	4	436	1	0	0	0	0	0	0	0	1	11711	639	23	1		1	PDHA1	23	19377663	Silent	SNP	C	TCGA-S9-A7IQ-01A-21D-A34A-08		19377663	135892897	27	35131											
MACF1	23499	broad.mit.edu	37	1	39950322	39950322	+	Missense_Mutation	SNP	A	A	C			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr1:39950322A>C	ENST00000564288.1	+	100	23108	c.22331A>C	c.(22330-22332)cAt>cCt	p.H7444P	MACF1_ENST00000567887.1_Missense_Mutation_p.H7481P|MACF1_ENST00000372915.3_Missense_Mutation_p.H7277P|MACF1_ENST00000539005.1_Missense_Mutation_p.H5189P|MACF1_ENST00000545844.1_Missense_Mutation_p.H5319P|MACF1_ENST00000361689.2_Missense_Mutation_p.H5319P|MACF1_ENST00000289893.4_Missense_Mutation_p.H5827P|MACF1_ENST00000317713.7_Missense_Mutation_p.H5319P			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	7277					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CCAACTTTTCATTCTAGTCGG	0.438													10	168					0	0	1	0	0	C	39950322	A	C	39950322	3	2	437	1	0	0	0	0	1	0	0	0	9190	217	8	4	22499	4	MACF1	1	39950322	Missense_Mutation	SNP	A	TCGA-S9-A7IS-01A-11D-A34A-08		39950322	209300299	1	35132											
IL12RB2	3595	broad.mit.edu	37	1	67792514	67792514	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr1:67792514A>G	ENST00000262345.1	+	4	1101	c.461A>G	c.(460-462)tAc>tGc	p.Y154C	IL12RB2_ENST00000371000.1_Missense_Mutation_p.Y154C|IL12RB2_ENST00000544434.1_Missense_Mutation_p.Y154C|IL12RB2_ENST00000541374.1_Missense_Mutation_p.Y154C	NM_001559.2	NP_001550.1	Q99665	I12R2_HUMAN	interleukin 12 receptor, beta 2	154	Fibronectin type-III 1.				positive regulation of cell proliferation|positive regulation of interferon-gamma production	integral to plasma membrane	cytokine receptor activity			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(21)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	45						ACCCACTTATACACTGAGTAT	0.408													8	45					0	0	1	0	0	G	67792514	A	G	67792514	3	3	437	1	0	0	0	0	1	0	0	0	7671	391	14	3	471	3	IL12RB2	1	67792514	Missense_Mutation	SNP	A	TCGA-S9-A7IS-01A-11D-A34A-08	27842192	67792514	181458107	2	35133											
ABCA4	24	broad.mit.edu	37	1	94471002	94471002	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr1:94471002C>T	ENST00000370225.3	-	44	6228	c.6142G>A	c.(6142-6144)Gaa>Aaa	p.E2048K	ABCA4_ENST00000535881.1_Missense_Mutation_p.E167K|ABCA4_ENST00000465352.1_5'UTR|ABCA4_ENST00000536513.1_Missense_Mutation_p.E318K	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	2048	ABC transporter 2.				phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		TTCACCTTTTCGATTTCTTCT	0.448													31	69					0	0	1	0	0	T	94471002	C	T	94471002	3	4	437	1	0	0	0	0	1	0	0	0	34	893	31	1	707	1	ABCA4	1	94471002	Missense_Mutation	SNP	C	TCGA-S9-A7IS-01A-11D-A34A-08	26678488	94471002	154779619	3	35134											
MNDA	4332	broad.mit.edu	37	1	158815755	158815755	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr1:158815755T>C	ENST00000368141.4	+	5	1210	c.949T>C	c.(949-951)Tct>Cct	p.S317P		NM_002432.1	NP_002423.1	P41218	MNDA_HUMAN	myeloid cell nuclear differentiation antigen	317	HIN-200.				B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(26)|ovary(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	all_hematologic(112;0.0378)					CAAGCAAGCATCTGGAACAAT	0.318													40	68					0	0	1	0	0	C	158815755	T	C	158815755	3	2	437	1	0	0	0	0	1	0	0	0	9725	1435	50	3	963	3	MNDA	1	158815755	Missense_Mutation	SNP	T	TCGA-S9-A7IS-01A-11D-A34A-08	64344753	158815755	90434866	4	35135											
OR2T4	127074	broad.mit.edu	37	1	248525411	248525411	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr1:248525411T>C	ENST00000366475.1	+	1	529	c.529T>C	c.(529-531)Tca>Cca	p.S177P		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	177					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TCTCTTCCTGTCATCAGGCTG	0.532													77	108					0	0	1	0	0	C	248525411	T	C	248525411	3	2	437	1	0	0	0	0	1	0	0	0	11075	1667	58	3	531	3	OR2T4	1	248525411	Missense_Mutation	SNP	T	TCGA-S9-A7IS-01A-11D-A34A-08	89709656	248525411	725210	5	35136											
ITGB6	3694	broad.mit.edu	37	2	161030526	161030526	+	Missense_Mutation	SNP	C	C	T	rs140624114		TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr2:161030526C>T	ENST00000283249.2	-	5	955	c.718G>A	c.(718-720)Gaa>Aaa	p.E240K	ITGB6_ENST00000485635.1_5'UTR|ITGB6_ENST00000409872.1_Missense_Mutation_p.E240K|ITGB6_ENST00000409967.2_Missense_Mutation_p.E240K|ITGB6_ENST00000428609.2_Missense_Mutation_p.E198K	NM_001282353.1|NM_001282354.1|NM_001282388.1	NP_001269282.1|NP_001269283.1|NP_001269317.1	P18564	ITB6_HUMAN	integrin, beta 6	240	VWFA.				cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|multicellular organismal development	integrin complex	receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						AATCCACCTTCGGGTGTGTCA	0.348													26	43					0	0	1	0	0	T	161030526	C	T	161030526	3	4	437	1	0	0	0	0	1	0	0	0	7943	893	31	1	1692	1	ITGB6	2	161030526	Missense_Mutation	SNP	C	TCGA-S9-A7IS-01A-11D-A34A-08		161030526	82168847	6	35137											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								39	61					0	0	1	0	0	T	209113112	C	T	209113112	3	4	437	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-S9-A7IS-01A-11D-A34A-08	48082586	209113112	34086261	7	35138											
ABCA12	26154	broad.mit.edu	37	2	215823032	215823032	+	Missense_Mutation	SNP	C	C	A			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr2:215823032C>A	ENST00000272895.7	-	41	6305	c.6086G>T	c.(6085-6087)tGc>tTc	p.C2029F	AC072062.1_ENST00000607412.1_RNA|ABCA12_ENST00000389661.4_Missense_Mutation_p.C1711F	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	2029					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TACCCAGTAGCATGTCACGCC	0.418													5	106					8.12818e-05	8.23953e-05	1	1	0	A	215823032	C	A	215823032	3	1	437	1	0	0	0	0	1	0	0	0	30	710	25	5	1753	5	ABCA12	2	215823032	Missense_Mutation	SNP	C	TCGA-S9-A7IS-01A-11D-A34A-08	6709920	215823032	27376341	8	35139											
HJURP	55355	broad.mit.edu	37	2	234756099	234756099	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr2:234756099T>C	ENST00000411486.2	-	5	411	c.346A>G	c.(346-348)Agc>Ggc	p.S116G	HJURP_ENST00000432087.1_Intron|HJURP_ENST00000441687.1_Intron	NM_018410.3	NP_060880.3	Q8NCD3	HJURP_HUMAN	Holliday junction recognition protein	116					cell cycle|CenH3-containing nucleosome assembly at centromere|centromeric core chromatin assembly|chromosome segregation|regulation of DNA binding|regulation of protein complex assembly	condensed chromosome kinetochore|cytoplasm|nucleolus|nucleoplasm	DNA binding|histone binding			NS(2)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Breast(86;0.00204)|all_lung(227;0.00433)|Renal(207;0.00685)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0719)|Lung SC(224;0.128)		Epithelial(121;2.01e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000186)|Lung(119;0.00521)|LUSC - Lung squamous cell carcinoma(224;0.00829)		ACCTCACCGCTTTTTGAATCT	0.458													32	43					0	0	1	0	0	C	234756099	T	C	234756099	3	2	437	1	0	0	0	0	1	0	0	0	7230	1609	56	3	1920	3	HJURP	2	234756099	Missense_Mutation	SNP	T	TCGA-S9-A7IS-01A-11D-A34A-08	18933067	234756099	8443274	9	35140											
SCN10A	6336	broad.mit.edu	37	3	38739124	38739124	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr3:38739124G>A	ENST00000449082.2	-	27	5586	c.5587C>T	c.(5587-5589)Cgg>Tgg	p.R1863W		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1863	IQ.				sensory perception	voltage-gated sodium channel complex		p.R1863W(1)		NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	ACATAGCTCCGATAGGCCTTT	0.488													30	41					0	0	1	0	0	A	38739124	G	A	38739124	3	1	437	1	0	0	0	0	1	0	0	0	13966	1057	37	1	287	1	SCN10A	3	38739124	Missense_Mutation	SNP	G	TCGA-S9-A7IS-01A-11D-A34A-08		38739124	159283306	10	35141											
SCN10A	6336	broad.mit.edu	37	3	38812783	38812783	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr3:38812783C>T	ENST00000449082.2	-	4	585	c.586G>A	c.(586-588)Gtc>Atc	p.V196I		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	196					sensory perception	voltage-gated sodium channel complex		p.V196I(1)		NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	AGGGTAATGACGCTAAAATCC	0.458													4	92					0	0	1	0	0	T	38812783	C	T	38812783	3	4	437	1	0	0	0	0	1	0	0	0	13966	536	19	1	5380	1	SCN10A	3	38812783	Missense_Mutation	SNP	C	TCGA-S9-A7IS-01A-11D-A34A-08	73659	38812783	159209647	11	35142											
SI	6476	broad.mit.edu	37	3	164792423	164792423	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr3:164792423T>C	ENST00000264382.3	-	3	213	c.151A>G	c.(151-153)Act>Gct	p.T51A		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	51	Ser/Thr-rich.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	GTCACACGAGTAGTAGCTGGA	0.333										HNSCC(35;0.089)			23	62					0	0	1	0	0	C	164792423	T	C	164792423	3	2	437	1	0	0	0	0	1	0	0	0	14352	1638	57	3	5516	3	SI	3	164792423	Missense_Mutation	SNP	T	TCGA-S9-A7IS-01A-11D-A34A-08	125979640	164792423	33230007	12	35143											
PDE6B	5158	broad.mit.edu	37	4	658001	658001	+	Missense_Mutation	SNP	A	A	T			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr4:658001A>T	ENST00000255622.6	+	17	2163	c.2120A>T	c.(2119-2121)gAg>gTg	p.E707V	PDE6B_ENST00000496514.1_Missense_Mutation_p.E707V|PDE6B_ENST00000429163.2_Missense_Mutation_p.E428V	NM_000283.3|NM_001145291.1	NP_000274.2|NP_001138763	P35913	PDE6B_HUMAN	phosphodiesterase 6B, cGMP-specific, rod, beta	707					cytosolic calcium ion homeostasis|GMP metabolic process|phototransduction, visible light|platelet activation|visual perception	cytosol|membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30						ACCCGGAAGGAGATCGTCATG	0.617													31	33					0	0	1	0	0	T	658001	A	T	658001	3	4	437	1	0	0	0	0	1	0	0	0	11693	304	11	5	2186	5	PDE6B	4	658001	Missense_Mutation	SNP	A	TCGA-S9-A7IS-01A-11D-A34A-08		658001	190496275	13	35144											
RBPJ	3516	broad.mit.edu	37	4	26426086	26426086	+	Frame_Shift_Del	DEL	T	T	-			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr4:26426086delT	ENST00000342320.4	+	6	792	c.616delT	c.(616-618)tttfs	p.F207fs	RBPJ_ENST00000355476.3_Frame_Shift_Del_p.F207fs|RBPJ_ENST00000342295.1_Frame_Shift_Del_p.F221fs|RBPJ_ENST00000361572.6_Frame_Shift_Del_p.F221fs|RBPJ_ENST00000348160.4_Frame_Shift_Del_p.F208fs|RBPJ_ENST00000504907.1_Frame_Shift_Del_p.F207fs|RBPJ_ENST00000507561.1_Frame_Shift_Del_p.F186fs|RBPJ_ENST00000345843.3_Frame_Shift_Del_p.F206fs			Q06330	SUH_HUMAN	recombination signal binding protein for immunoglobulin kappa J region	221					DNA recombination|negative regulation of transcription, DNA-dependent|positive regulation of transcription of Notch receptor target	cytoplasm|nucleolus|nucleoplasm	DNA binding|protein binding|recombinase activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)	15		Breast(46;0.0503)				GTGGGGAGCCTTTTTTATTCA	0.358													7	2330	---	---	---	---						-	26426086	T	-	26426086	7	5	437	1	0	1	0	1	0	0	0	0	13213	1609	56	0	743	0	RBPJ	4	26426086	Frame_Shift_Del	DEL	T	TCGA-S9-A7IS-01A-11D-A34A-08	25768085	26426086	164728190	14	35145											
PDGFRA	5156	broad.mit.edu	37	4	55131143	55131143	+	Missense_Mutation	SNP	A	A	T			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr4:55131143A>T	ENST00000257290.5	+	5	1017	c.686A>T	c.(685-687)gAa>gTa	p.E229V	FIP1L1_ENST00000507166.1_Intron|PDGFRA_ENST00000508170.1_3'UTR	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	229	Ig-like C2-type 3.				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	AAGTCAGGGGAAACGATTGTG	0.428			"Mis, O, T"	FIP1L1	"GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			1046	792					0	0	1	0	0	T	55131143	A	T	55131143	3	4	437	1	0	0	0	0	1	0	0	0	11708	246	9	5	700	5	PDGFRA	4	55131143	Missense_Mutation	SNP	A	TCGA-S9-A7IS-01A-11D-A34A-08	28705057	55131143	136023133	15	35146			1	45		5	5	7502	N	T_G_C_A	2.095301e-09
PDGFRA	5156	broad.mit.edu	37	4	55131185	55131185	+	Missense_Mutation	SNP	T	T	G			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr4:55131185T>G	ENST00000257290.5	+	5	1059	c.728T>G	c.(727-729)gTt>gGt	p.V243G	FIP1L1_ENST00000507166.1_Intron|PDGFRA_ENST00000508170.1_3'UTR	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	243	Ig-like C2-type 3.				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	AATGAGGTGGTTGACCTTCAA	0.473			"Mis, O, T"	FIP1L1	"GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			8	1428					0	0	1	0	0	G	55131185	T	G	55131185	3	3	437	1	0	0	0	0	1	0	0	0	11708	1725	60	5	742	5	PDGFRA	4	55131185	Missense_Mutation	SNP	T	TCGA-S9-A7IS-01A-11D-A34A-08	42	55131185	136023091	16	35147			1	45		5	5	7502	N	T_G_C_A	2.095301e-09
PDGFRA	5156	broad.mit.edu	37	4	55131197	55131197	+	Missense_Mutation	SNP	G	G	C			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr4:55131197G>C	ENST00000257290.5	+	5	1071	c.740G>C	c.(739-741)tGg>tCg	p.W247S	FIP1L1_ENST00000507166.1_Intron|PDGFRA_ENST00000508170.1_3'UTR	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	247	Ig-like C2-type 3.				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	GACCTTCAATGGACTTACCCT	0.478			"Mis, O, T"	FIP1L1	"GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			27	1263					0	0	1	0	0	C	55131197	G	C	55131197	3	2	437	1	0	0	0	0	1	0	0	0	11708	1357	47	5	754	5	PDGFRA	4	55131197	Missense_Mutation	SNP	G	TCGA-S9-A7IS-01A-11D-A34A-08	12	55131197	136023079	17	35148			1	45		5	5	7502	N	T_G_C_A	2.095301e-09
PDGFRA	5156	broad.mit.edu	37	4	55136847	55136847	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr4:55136847G>A	ENST00000257290.5	+	8	1500	c.1169G>A	c.(1168-1170)gGc>gAc	p.G390D	FIP1L1_ENST00000507166.1_Intron	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	390	Ig-like C2-type 4.				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	GAAGACAGTGGCCATTATACT	0.348			"Mis, O, T"	FIP1L1	"GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			138	1007					0	0	1	0	0	A	55136847	G	A	55136847	3	1	437	1	0	0	0	0	1	0	0	0	11708	1203	42	2	1195	2	PDGFRA	4	55136847	Missense_Mutation	SNP	G	TCGA-S9-A7IS-01A-11D-A34A-08	5650	55136847	136017429	18	35149			1	45		5	5	7502	N	T_G_C_A	2.095301e-09
PDGFRA	5156	broad.mit.edu	37	4	55138644	55138644	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr4:55138644C>T	ENST00000257290.5	+	9	1652	c.1321C>T	c.(1321-1323)Ccg>Tcg	p.P441S	FIP1L1_ENST00000507166.1_Intron	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	441	Ig-like C2-type 5.				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	TGAAGGCACGCCGCTTCCTGA	0.468			"Mis, O, T"	FIP1L1	"GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			10	1164					0	0	1	0	0	T	55138644	C	T	55138644	3	4	437	1	0	0	0	0	1	0	0	0	11708	739	26	2	1351	2	PDGFRA	4	55138644	Missense_Mutation	SNP	C	TCGA-S9-A7IS-01A-11D-A34A-08	1797	55138644	136015632	19	35150			1	45		5	5	7502	N	T_G_C_A	2.095301e-09
PDGFRA	5156	broad.mit.edu	37	4	55151636	55151636	+	Frame_Shift_Del	DEL	T	T	-			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr4:55151636delT	ENST00000257290.5	+	17	2753	c.2422delT	c.(2422-2424)tttfs	p.F808fs	FIP1L1_ENST00000507166.1_Frame_Shift_Del_p.F568fs	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	808	Protein kinase.				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity	p.F808L(1)		NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	AGGAATGGAGTTTTTGGCTTC	0.418			"Mis, O, T"	FIP1L1	"GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			8	1709	---	---	---	---						-	55151636	T	-	55151636	7	5	437	1	0	1	0	1	0	0	0	0	11708	1725	60	0	2484	0	PDGFRA	4	55151636	Frame_Shift_Del	DEL	T	TCGA-S9-A7IS-01A-11D-A34A-08	12992	55151636	136002640	20	35151											
TLL1	7092	broad.mit.edu	37	4	166795174	166795174	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr4:166795174A>G	ENST00000061240.2	+	1	765	c.118A>G	c.(118-120)Aac>Gac	p.N40D	TLL1_ENST00000507499.1_Missense_Mutation_p.N40D|TLL1_ENST00000513213.1_Missense_Mutation_p.N40D	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	40					cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		TTTTGATGGGAACGAAGAGGA	0.572													96	50					0	0	1	0	0	G	166795174	A	G	166795174	3	3	437	1	0	0	0	0	1	0	0	0	16005	246	9	3	120	3	TLL1	4	166795174	Missense_Mutation	SNP	A	TCGA-S9-A7IS-01A-11D-A34A-08	111643538	166795174	24359102	21	35152											
FAT1	2195	broad.mit.edu	37	4	187540255	187540255	+	Silent	SNP	G	G	A			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr4:187540255G>A	ENST00000441802.2	-	10	7694	c.7485C>T	c.(7483-7485)aaC>aaT	p.N2495N		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2495	Cadherin 23.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						CTTCATATTCGTTCTGAAGGA	0.443										HNSCC(5;0.00058)			116	39					0	0	1	0	0	A	187540255	G	A	187540255	2	1	437	1	0	0	0	0	0	0	0	1	5722	1136	40	1		1	FAT1	4	187540255	Silent	SNP	G	TCGA-S9-A7IS-01A-11D-A34A-08	20745081	187540255	3614021	22	35153											
MYO10	4651	broad.mit.edu	37	5	16684040	16684040	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr5:16684040G>A	ENST00000513610.1	-	30	4449	c.3995C>T	c.(3994-3996)aCc>aTc	p.T1332I	MYO10_ENST00000515803.1_Missense_Mutation_p.T671I|MYO10_ENST00000505695.1_Missense_Mutation_p.T671I|MYO10_ENST00000427430.2_Missense_Mutation_p.T689I|MYO10_ENST00000274203.9_Missense_Mutation_p.T689I	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	1332					axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						CACATCCAAGGTGCCCTGGAA	0.463													11	13					0	0	1	0	0	A	16684040	G	A	16684040	3	1	437	1	0	0	0	0	1	0	0	0	10110	1261	44	2	2229	2	MYO10	5	16684040	Missense_Mutation	SNP	G	TCGA-S9-A7IS-01A-11D-A34A-08		16684040	164231220	23	35154											
DUSP1	1843	broad.mit.edu	37	5	172195811	172195811	+	Missense_Mutation	SNP	G	G	A	rs150141714	byFrequency	TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr5:172195811G>A	ENST00000239223.3	-	4	1300	c.1058C>T	c.(1057-1059)gCg>gTg	p.A353V	RP11-779O18.3_ENST00000523005.1_RNA	NM_004417.3	NP_004408.1	P28562	DUS1_HUMAN	dual specificity phosphatase 1	353	Tyrosine-protein phosphatase.				cell cycle|endoderm formation|inactivation of MAPK activity	nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|non-membrane spanning protein tyrosine phosphatase activity|protein binding			NS(1)|breast(2)|endometrium(1)|large_intestine(1)|liver(1)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	10	Renal(175;0.000159)|Lung NSC(126;0.00431)|all_lung(126;0.00729)	all_hematologic(541;4.11e-18)|Breast(839;0.00637)|Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|Ovarian(839;0.15)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)	GBM - Glioblastoma multiforme(465;0.0103)		GTAGCTCAGCGCACTGTTCGT	0.617													33	37					0	0	1	0	0	A	172195811	G	A	172195811	3	1	437	1	0	0	0	0	1	0	0	0	4835	1087	38	1	49	1	DUSP1	5	172195811	Missense_Mutation	SNP	G	TCGA-S9-A7IS-01A-11D-A34A-08	155511771	172195811	8719449	24	35155											
SYNCRIP	10492	broad.mit.edu	37	6	86324886	86324886	+	Missense_Mutation	SNP	C	C	G			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr6:86324886C>G	ENST00000355238.6	-	11	1666	c.1460G>C	c.(1459-1461)gGt>gCt	p.G487A	RP11-321N4.5_ENST00000503906.1_Missense_Mutation_p.V23L|SYNCRIP_ENST00000369622.3_Missense_Mutation_p.G487A	NM_001159673.1|NM_001159674.1|NM_001159676.1|NM_001159677.1|NM_001253771.1	NP_001153145.1|NP_001153146.1|NP_001153148.1|NP_001153149.1|NP_001240700.1	O60506	HNRPQ_HUMAN	synaptotagmin binding, cytoplasmic RNA interacting protein	487	3 X 4 AA repeats of Y-Y-G-Y.|8 X 3 AA repeats of R-G-G.|Interaction with APOBEC1.				CRD-mediated mRNA stabilization|interspecies interaction between organisms	catalytic step 2 spliceosome|CRD-mediated mRNA stability complex|endoplasmic reticulum|histone pre-mRNA 3'end processing complex|microsome|nucleoplasm	nucleotide binding|protein binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_cancers(76;0.000137)|Acute lymphoblastic leukemia(125;3.66e-08)|Prostate(29;8.2e-07)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0297)		BRCA - Breast invasive adenocarcinoma(108;0.0389)		ATCTTCATAACCATAGTATGG	0.438													15	29					0	0	1	0	0	G	86324886	C	G	86324886	3	3	437	1	0	0	0	0	1	0	0	0	15501	507	18	5	461	5	SYNCRIP	6	86324886	Missense_Mutation	SNP	C	TCGA-S9-A7IS-01A-11D-A34A-08		86324886	84790181	25	35156											
EPHA7	2045	broad.mit.edu	37	6	93964444	93964444	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr6:93964444T>C	ENST00000369303.4	-	14	2637	c.2453A>G	c.(2452-2454)gAt>gGt	p.D818G		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	818	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		GCTCCATACATCACTGGCTGA	0.383													22	50					0	0	1	0	0	C	93964444	T	C	93964444	3	2	437	1	0	0	0	0	1	0	0	0	5200	1435	50	3	559	3	EPHA7	6	93964444	Missense_Mutation	SNP	T	TCGA-S9-A7IS-01A-11D-A34A-08	7639558	93964444	77150623	26	35157											
TSGA13	114960	broad.mit.edu	37	7	130364078	130364078	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr7:130364078T>C	ENST00000456951.1	-	6	1153	c.302A>G	c.(301-303)aAc>aGc	p.N101S	TSGA13_ENST00000356588.3_Missense_Mutation_p.N101S			Q96PP4	TSG13_HUMAN	testis specific, 13	101										endometrium(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	18	Melanoma(18;0.0435)					AGGTGGGTTGTTGGTCATAAT	0.438													42	58					0	0	1	0	0	C	130364078	T	C	130364078	3	2	437	1	0	0	0	0	1	0	0	0	16680	1725	60	3	541	3	TSGA13	7	130364078	Missense_Mutation	SNP	T	TCGA-S9-A7IS-01A-11D-A34A-08		130364078	28774585	27	35158											
ADAM2	2515	broad.mit.edu	37	8	39678649	39678649	+	Missense_Mutation	SNP	G	G	T			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr8:39678649G>T	ENST00000265708.4	-	6	488	c.385C>A	c.(385-387)Ccc>Acc	p.P129T	ADAM2_ENST00000521880.1_Missense_Mutation_p.P129T|ADAM2_ENST00000347580.4_Missense_Mutation_p.P129T|ADAM2_ENST00000523181.1_5'UTR|ADAM2_ENST00000379853.2_Missense_Mutation_p.P129T	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2	129					cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		GACTCCAGGGGTTCTATTCCA	0.308													24	61					1.64293e-13	1.76199e-13	1	1	0	T	39678649	G	T	39678649	3	4	437	1	0	0	0	0	1	0	0	0	240	1261	44	5	1882	5	ADAM2	8	39678649	Missense_Mutation	SNP	G	TCGA-S9-A7IS-01A-11D-A34A-08		39678649	106685373	28	35159											
SLC45A4	57210	broad.mit.edu	37	8	142228943	142228943	+	Missense_Mutation	SNP	C	C	T	rs139911158	byFrequency	TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr8:142228943C>T	ENST00000519067.1	-	4	946	c.643G>A	c.(643-645)Gct>Act	p.A215T	SLC45A4_ENST00000024061.3_Missense_Mutation_p.A215T|SLC45A4_ENST00000433583.2_Missense_Mutation_p.A208T|SLC45A4_ENST00000517878.1_Missense_Mutation_p.A266T			Q5BKX6	S45A4_HUMAN	solute carrier family 45, member 4	266					transport	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			GGCTCCTCAGCGCTGCGCTCC	0.672													55	61					0	0	1	0	0	T	142228943	C	T	142228943	3	4	437	1	0	0	0	0	1	0	0	0	14698	768	27	1	1773	1	SLC45A4	8	142228943	Missense_Mutation	SNP	C	TCGA-S9-A7IS-01A-11D-A34A-08	102550294	142228943	4135079	29	35160											
SPATC1	375686	broad.mit.edu	37	8	145095874	145095874	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr8:145095874G>A	ENST00000377470.3	+	3	1274	c.1172G>A	c.(1171-1173)cGt>cAt	p.R391H	SPATC1_ENST00000447830.2_Missense_Mutation_p.R391H	NM_198572.2	NP_940974.2	Q76KD6	SPERI_HUMAN	spermatogenesis and centriole associated 1	391										NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.67e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TCCCCACCTCGTACCTCATCC	0.622													23	30					0	0	1	0	0	A	145095874	G	A	145095874	3	1	437	1	0	0	0	0	1	0	0	0	15073	1145	40	1	1182	1	SPATC1	8	145095874	Missense_Mutation	SNP	G	TCGA-S9-A7IS-01A-11D-A34A-08	2866931	145095874	1268148	30	35161											
TMEM2	23670	broad.mit.edu	37	9	74355062	74355062	+	Missense_Mutation	SNP	C	C	A			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr9:74355062C>A	ENST00000377044.4	-	5	1660	c.1121G>T	c.(1120-1122)gGc>gTc	p.G374V	TMEM2_ENST00000377066.5_Missense_Mutation_p.G374V	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2	374						integral to membrane				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		AGCCTTCCCGCCACTGCTATG	0.433													9	79					0.000274275	0.000274275	1	1	0	A	74355062	C	A	74355062	3	1	437	1	0	0	0	0	1	0	0	0	16181	739	26	5	3110	5	TMEM2	9	74355062	Missense_Mutation	SNP	C	TCGA-S9-A7IS-01A-11D-A34A-08		74355062	66858369	31	35162											
UBQLN1	29979	broad.mit.edu	37	9	86294709	86294717	+	In_Frame_Del	DEL	TTATTCAAC	TTATTCAAC	-			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr9:86294709_86294717delTTATTCAAC	ENST00000376395.4	-	4	1207_1215	c.684_692delGTTGAATAA	c.(682-693)atgttgaataat>att	p.228_231MLNN>I	UBQLN1_ENST00000257468.7_In_Frame_Del_p.228_231MLNN>I	NM_013438.4|NM_053067.2	NP_038466.2|NP_444295.1	Q9UMX0	UBQL1_HUMAN	ubiquilin 1	228					apoptosis|regulation of protein ubiquitination|response to hypoxia	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm|proteasome complex	kinase binding			breast(4)|endometrium(2)|kidney(4)|large_intestine(6)|lung(10)|prostate(1)	27						TATATCTGGATTATTCAACATATGACTAA	0.33													31	51	---	---	---	---						-	86294717	TTATTCAAC	-	86294709	7	5	437	1	0	1	0	1	0	0	0	0	16957	1493	52	0	1109	0	UBQLN1	9	86294709	In_Frame_Del	DEL	TTATTCAAC	TCGA-S9-A7IS-01A-11D-A34A-08	11939647	86294709	54918722	32	35163											
CAMSAP1	157922	broad.mit.edu	37	9	138713204	138713204	+	Silent	SNP	G	G	A			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr9:138713204G>A	ENST00000389532.4	-	11	3367	c.3303C>T	c.(3301-3303)tcC>tcT	p.S1101S	CAMSAP1_ENST00000483991.1_5'UTR|CAMSAP1_ENST00000409386.3_Silent_p.S1112S|CAMSAP1_ENST00000312405.6_Silent_p.S823S	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein 1	1101						cytoplasm|microtubule				breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		CCGGCCTTCCGGAACGGGAAT	0.642													20	30					0	0	1	0	0	A	138713204	G	A	138713204	2	1	437	1	0	0	0	0	0	0	0	1	2629	1103	39	1		1	CAMSAP1	9	138713204	Silent	SNP	G	TCGA-S9-A7IS-01A-11D-A34A-08	52418495	138713204	2500227	33	35164											
STAM	8027	broad.mit.edu	37	10	17756581	17756581	+	Missense_Mutation	SNP	C	C	G			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr10:17756581C>G	ENST00000377524.3	+	14	1640	c.1425C>G	c.(1423-1425)agC>agG	p.S475R	STAM_ENST00000540523.1_Missense_Mutation_p.S364R	NM_003473.3	NP_003464.1	Q92783	STAM1_HUMAN	signal transducing adaptor molecule (SH3 domain and ITAM motif) 1	475					cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway	cytosol|early endosome membrane	SH3/SH2 adaptor activity			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	26						CATATCCCAGCCAGGCGCCAG	0.473													47	102					0	0	1	0	0	G	17756581	C	G	17756581	3	3	437	1	0	0	0	0	1	0	0	0	15304	738	26	5	1479	5	STAM	10	17756581	Missense_Mutation	SNP	C	TCGA-S9-A7IS-01A-11D-A34A-08		17756581	117778166	34	35165											
RET	5979	broad.mit.edu	37	10	43604537	43604537	+	Silent	SNP	G	G	A			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr10:43604537G>A	ENST00000355710.3	+	6	1354	c.1122G>A	c.(1120-1122)gtG>gtA	p.V374V	RET_ENST00000340058.5_Silent_p.V374V	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	374					homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Sunitinib(DB01268)	AGCTGGCGGTGCTGGTCAATG	0.622		1	"T, Mis, N, F"	"H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"	"medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"	"medullary thyroid,  papillary thyroid, pheochromocytoma"	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma				23	38					0	0	1	0	0	A	43604537	G	A	43604537	2	1	437	1	0	0	0	0	0	0	0	1	13287	1306	46	2		2	RET	10	43604537	Silent	SNP	G	TCGA-S9-A7IS-01A-11D-A34A-08	25847956	43604537	91930210	35	35166											
PRF1	5551	broad.mit.edu	37	10	72358782	72358782	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr10:72358782C>T	ENST00000441259.1	-	3	855	c.695G>A	c.(694-696)cGc>cAc	p.R232H	PRF1_ENST00000373209.2_Missense_Mutation_p.R232H	NM_001083116.1|NM_005041.4	NP_001076585.1|NP_005032.2	P14222	PERF_HUMAN	perforin 1 (pore forming protein)	232	MACPF.				apoptosis|cellular defense response|cytolysis|defense response to tumor cell|defense response to virus|immune response to tumor cell|protein homooligomerization	cytolytic granule|endosome lumen|extracellular region|integral to membrane|plasma membrane	calcium ion binding|protein binding|wide pore channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(3)|urinary_tract(3)	23						GGCCGATATGCGGCCACCCAG	0.657			M			"various leukaemia, lymphoma"	Type 2 familial hemophagocytic lymphohistiocytosis		Familial Hemophagocytic Lymphohistiocytosis				3	29					0	0	1	0	0	T	72358782	C	T	72358782	3	4	437	1	0	0	0	0	1	0	0	0	12530	768	27	1	976	1	PRF1	10	72358782	Missense_Mutation	SNP	C	TCGA-S9-A7IS-01A-11D-A34A-08	28754245	72358782	63175965	36	35167											
HBB	3043	broad.mit.edu	37	11	5248019	5248019	+	Missense_Mutation	SNP	C	C	A	rs1141387		TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr11:5248019C>A	ENST00000335295.4	-	2	152	c.103G>T	c.(103-105)Gtc>Ttc	p.V35F		NM_000518.4	NP_000509.1	P68871	HBB_HUMAN	hemoglobin, beta				V -> D (in Santander; unstable).|V -> F (in Pitie-Salpetriere; O(2) affinity up).|V -> L (in Nantes; increased oxygen affinity).		blood coagulation|hydrogen peroxide catabolic process|nitric oxide transport|positive regulation of cell death|positive regulation of nitric oxide biosynthetic process|protein heterooligomerization|regulation of blood pressure|regulation of blood vessel size	haptoglobin-hemoglobin complex|hemoglobin complex	heme binding|hemoglobin binding|oxygen binding|oxygen transporter activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|skin(1)	15		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	Iron Dextran(DB00893)	CAAGGGTAGACCACCAGCAGC	0.507									Sickle Cell Trait				21	42					1.00905e-13	1.09808e-13	1	1	0	A	5248019	C	A	5248019	3	1	437	1	0	0	0	0	1	0	0	0	7019	507	18	5	348	5	HBB	11	5248019	Missense_Mutation	SNP	C	TCGA-S9-A7IS-01A-11D-A34A-08		5248019	129758497	37	35168											
HBG2	3048	broad.mit.edu	37	11	5275635	5275635	+	Missense_Mutation	SNP	C	C	A			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr11:5275635C>A	ENST00000380259.2	-	7	1442	c.202G>T	c.(202-204)Gtg>Ttg	p.V68L	HBG2_ENST00000336906.4_Missense_Mutation_p.V68L|HBG2_ENST00000380252.1_Missense_Mutation_p.V58L					hemoglobin, gamma G											endometrium(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)	13		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GAAGTCAGCACCTTCTTGCCA	0.537													55	122					1.07796e-43	1.19058e-43	1	1	0	A	5275635	C	A	5275635	3	1	437	1	0	0	0	0	1	0	0	0	7024	507	18	5	249	5	HBG2	11	5275635	Missense_Mutation	SNP	C	TCGA-S9-A7IS-01A-11D-A34A-08	27616	5275635	129730881	38	35169											
DCDC1	341019	broad.mit.edu	37	11	31312192	31312192	+	Splice_Site	SNP	A	A	G			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr11:31312192A>G	ENST00000597505.1	-	5	960		c.e5+1		DCDC1_ENST00000452803.1_Splice_Site			P59894	DCDC1_HUMAN	doublecortin domain containing 1						intracellular signal transduction					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					ATTAAAAATTACCTTTTTCAT	0.333													37	45					0	0	1	0	0	G	31312192	A	G	31312192	5	3	437	1	0	0	0	0	0	0	1	0	4307	405	14	3	114	3	DCDC1	11	31312192	Splice_Site	SNP	A	TCGA-S9-A7IS-01A-11D-A34A-08	26036557	31312192	103694324	39	35170											
AHNAK	79026	broad.mit.edu	37	11	62296869	62296869	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr11:62296869A>G	ENST00000378024.4	-	5	5294	c.5020T>C	c.(5020-5022)Tct>Cct	p.S1674P	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	1674					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TTGGGCACAGACACATCCATA	0.493													96	319					0	0	1	0	0	G	62296869	A	G	62296869	3	3	437	1	0	0	0	0	1	0	0	0	411	275	10	3	12772	3	AHNAK	11	62296869	Missense_Mutation	SNP	A	TCGA-S9-A7IS-01A-11D-A34A-08	30984677	62296869	72709647	40	35171											
PCF11	51585	broad.mit.edu	37	11	82877730	82877730	+	Nonsense_Mutation	SNP	G	G	A			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr11:82877730G>A	ENST00000298281.4	+	5	2243	c.1791G>A	c.(1789-1791)tgG>tgA	p.W597*		NM_015885.3	NP_056969.2	O94913	PCF11_HUMAN	PCF11 cleavage and polyadenylation factor subunit	597					mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage factor complex				cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						CCAAAAGATGGAAATCTGGTT	0.343													29	48					0	0	1	0	0	A	82877730	G	A	82877730	4	1	437	1	0	0	0	0	0	1	0	0	11620	1183	41	2	1809	2	PCF11	11	82877730	Nonsense_Mutation	SNP	G	TCGA-S9-A7IS-01A-11D-A34A-08	20580861	82877730	52128786	41	35172											
FAT3	120114	broad.mit.edu	37	11	92535041	92535041	+	Silent	SNP	C	C	T			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr11:92535041C>T	ENST00000298047.6	+	9	8879	c.8862C>T	c.(8860-8862)tcC>tcT	p.S2954S	FAT3_ENST00000409404.2_Silent_p.S2954S|FAT3_ENST00000525166.1_Silent_p.S2804S			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2954	Cadherin 27.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GAGACACATCCGACGTTAATC	0.527										TCGA Ovarian(4;0.039)			21	28					0	0	1	0	0	T	92535041	C	T	92535041	2	4	437	1	0	0	0	0	0	0	0	1	5724	639	23	1		1	FAT3	11	92535041	Silent	SNP	C	TCGA-S9-A7IS-01A-11D-A34A-08	9657311	92535041	42471475	42	35173											
WNK1	65125	broad.mit.edu	37	12	862984	862984	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr12:862984A>G	ENST00000537687.1	+	1	896	c.253A>G	c.(253-255)Atc>Gtc	p.I85V	WNK1_ENST00000530271.2_Missense_Mutation_p.I85V|WNK1_ENST00000447667.2_Missense_Mutation_p.I85V|WNK1_ENST00000315939.6_Missense_Mutation_p.I85V|WNK1_ENST00000535572.1_Missense_Mutation_p.I85V	NM_001184985.1|NM_213655.4	NP_001171914.1|NP_998820.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	85					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			CCGGAGCGTCATCTGTGACTC	0.672													15	31					0	0	1	0	0	G	862984	A	G	862984	3	3	437	1	0	0	0	0	1	0	0	0	17437	217	8	3	255	3	WNK1	12	862984	Missense_Mutation	SNP	A	TCGA-S9-A7IS-01A-11D-A34A-08		862984	132988911	43	35174											
ARID2	196528	broad.mit.edu	37	12	46123891	46123892	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr12:46123891_46123892delAG	ENST00000334344.6	+	2	329_330	c.157_158delAG	c.(157-159)agafs	p.R53fs	ARID2_ENST00000422737.1_5'UTR	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	53	ARID.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		TCTCTACACCAGAGTCACTACT	0.53			"N, S, F"		hepatocellular carcinoma								38	71	---	---	---	---						-	46123892	AG	-	46123891	7	5	437	1	0	1	0	1	0	0	0	0	912	180	7	0	163	0	ARID2	12	46123891	Frame_Shift_Del	DEL	AG	TCGA-S9-A7IS-01A-11D-A34A-08	45260907	46123891	87728004	44	35175											
CHST11	50515	broad.mit.edu	37	12	105151332	105151332	+	Silent	SNP	C	C	T			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr12:105151332C>T	ENST00000303694.5	+	3	1249	c.810C>T	c.(808-810)caC>caT	p.H270H	CHST11_ENST00000549260.1_Silent_p.H265H	NM_018413.5	NP_060883.1	Q9NPF2	CHSTB_HUMAN	carbohydrate (chondroitin 4) sulfotransferase 11	270					chondroitin sulfate biosynthetic process	Golgi membrane|integral to membrane	chondroitin 4-sulfotransferase activity|N-acetylgalactosamine 4-O-sulfotransferase activity			breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(1)	18						ATCCCTGCCACATCCACTATG	0.557													11	15					0	0	1	0	0	T	105151332	C	T	105151332	2	4	437	1	0	0	0	0	0	0	0	1	3421	477	17	2		2	CHST11	12	105151332	Silent	SNP	C	TCGA-S9-A7IS-01A-11D-A34A-08	59027441	105151332	28700563	45	35176											
FREM2	341640	broad.mit.edu	37	13	39263024	39263024	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr13:39263024G>A	ENST00000280481.7	+	1	1759	c.1543G>A	c.(1543-1545)Ggc>Agc	p.G515S		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	515					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		GCTGGCAGCCGGCCAGGTGGT	0.602													4	8					0	0	1	0	0	A	39263024	G	A	39263024	3	1	437	1	0	0	0	0	1	0	0	0	6080	1116	39	1	1545	1	FREM2	13	39263024	Missense_Mutation	SNP	G	TCGA-S9-A7IS-01A-11D-A34A-08		39263024	75906854	46	35177											
GABRG3	2567	broad.mit.edu	37	15	27772702	27772702	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr15:27772702C>T	ENST00000333743.6	+	8	1243	c.989C>T	c.(988-990)gCg>gTg	p.A330V	RP11-100M12.3_ENST00000556642.1_RNA	NM_033223.4	NP_150092.2	Q99928	GBRG3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 3	330					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	p.A330V(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(23)|skin(1)|upper_aerodigestive_tract(4)	42		all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235)		all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261)		GTCTTCGCCGCGCTGATGGAG	0.547													19	14					0	0	1	0	0	T	27772702	C	T	27772702	3	4	437	1	0	0	0	0	1	0	0	0	6208	768	27	1	1019	1	GABRG3	15	27772702	Missense_Mutation	SNP	C	TCGA-S9-A7IS-01A-11D-A34A-08		27772702	74758690	47	35178											
OCA2	4948	broad.mit.edu	37	15	28263615	28263615	+	Silent	SNP	C	C	T			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr15:28263615C>T	ENST00000354638.3	-	7	890	c.735G>A	c.(733-735)ggG>ggA	p.G245G	OCA2_ENST00000382996.2_Silent_p.G245G|OCA2_ENST00000353809.5_Silent_p.G245G	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II	245					eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		GCTCTTCCCTCCCAGGACGAC	0.612									Oculocutaneous Albinism				4	27					0	0	1	0	0	T	28263615	C	T	28263615	2	4	437	1	0	0	0	0	0	0	0	1	10863	842	30	2		2	OCA2	15	28263615	Silent	SNP	C	TCGA-S9-A7IS-01A-11D-A34A-08	490913	28263615	74267777	48	35179											
LYSMD4	145748	broad.mit.edu	37	15	100269717	100269717	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr15:100269717C>T	ENST00000545021.1	-	4	938	c.124G>A	c.(124-126)Ggc>Agc	p.G42S	LYSMD4_ENST00000604213.1_Intron|LYSMD4_ENST00000409796.1_Missense_Mutation_p.G168S|LYSMD4_ENST00000344791.2_Missense_Mutation_p.G169S|LYSMD4_ENST00000332728.4_Missense_Mutation_p.G168S			Q5XG99	LYSM4_HUMAN	LysM, putative peptidoglycan-binding, domain containing 4	168					cell wall macromolecule catabolic process	integral to membrane				breast(1)|cervix(1)|kidney(2)|large_intestine(2)|lung(3)|stomach(1)	10	Lung NSC(78;0.00335)|all_lung(78;0.00659)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		OV - Ovarian serous cystadenocarcinoma(32;0.00162)|LUSC - Lung squamous cell carcinoma(107;0.17)|Lung(145;0.208)			TTAAAGAAGCCCATCAGTTGG	0.567													41	113					0	0	1	0	0	T	100269717	C	T	100269717	3	4	437	1	0	0	0	0	1	0	0	0	9173	623	22	2	392	2	LYSMD4	15	100269717	Missense_Mutation	SNP	C	TCGA-S9-A7IS-01A-11D-A34A-08	72006102	100269717	2261675	49	35180											
ZSCAN10	84891	broad.mit.edu	37	16	3140076	3140076	+	Silent	SNP	C	C	T			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr16:3140076C>T	ENST00000252463.2	-	5	1281	c.1194G>A	c.(1192-1194)gcG>gcA	p.A398A	ZSCAN10_ENST00000575108.1_Silent_p.A59A|ZSCAN10_ENST00000538082.2_Silent_p.A316A	NM_032805.1	NP_116194.1	Q96SZ4	ZSC10_HUMAN	zinc finger and SCAN domain containing 10	398					negative regulation of transcription, DNA-dependent|viral reproduction	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(3)|endometrium(3)|kidney(1)|lung(8)|ovary(2)|prostate(1)|skin(4)|urinary_tract(1)	24						CCTGGGCGTGCGCCAGCAGGT	0.697													12	14					0	0	1	0	0	T	3140076	C	T	3140076	2	4	437	1	0	0	0	0	0	0	0	1	18269	755	27	1		1	ZSCAN10	16	3140076	Silent	SNP	C	TCGA-S9-A7IS-01A-11D-A34A-08		3140076	87214677	50	35181											
DNAH3	55567	broad.mit.edu	37	16	21031081	21031081	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr16:21031081C>T	ENST00000261383.3	-	41	5886	c.5887G>A	c.(5887-5889)Gtg>Atg	p.V1963M	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1963					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		GTGCCAGCCACGGTCCACACC	0.488													4	42					0	0	1	0	0	T	21031081	C	T	21031081	3	4	437	1	0	0	0	0	1	0	0	0	4631	536	19	1	6550	1	DNAH3	16	21031081	Missense_Mutation	SNP	C	TCGA-S9-A7IS-01A-11D-A34A-08	17891005	21031081	69323672	51	35182											
CHD9	80205	broad.mit.edu	37	16	53288443	53288443	+	Nonsense_Mutation	SNP	C	C	T			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr16:53288443C>T	ENST00000566029.1	+	18	4164	c.3955C>T	c.(3955-3957)Cga>Tga	p.R1319*	CHD9_ENST00000398510.3_Nonsense_Mutation_p.R1319*|CHD9_ENST00000447540.1_Nonsense_Mutation_p.R1319*|CHD9_ENST00000564845.1_Nonsense_Mutation_p.R1319*			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	1319	Helicase C-terminal.				cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				GATGTTTGACCGAGCCAGTTT	0.413													13	143					0	0	1	0	0	T	53288443	C	T	53288443	4	4	437	1	0	0	0	0	0	1	0	0	3354	644	23	1	4021	1	CHD9	16	53288443	Nonsense_Mutation	SNP	C	TCGA-S9-A7IS-01A-11D-A34A-08	32257362	53288443	37066310	52	35183											
TNS4	84951	broad.mit.edu	37	17	38635967	38635967	+	Silent	SNP	T	T	C			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr17:38635967T>C	ENST00000254051.6	-	10	2027	c.1869A>G	c.(1867-1869)aaA>aaG	p.K623K		NM_032865.5	NP_116254.4	Q8IZW8	TENS4_HUMAN	tensin 4	623	Phosphatase tensin-type.			K -> E (in Ref. 1; AAN32666 and 3; BAB55413).	apoptosis|protein localization	cytoplasm|cytoskeleton|focal adhesion	actin binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	30		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(5;5.91e-05)			GCTCTGTGACTTTGAAGTGGA	0.617													3	67					0	0	1	0	0	C	38635967	T	C	38635967	2	2	437	1	0	0	0	0	0	0	0	1	16405	1606	56	3		3	TNS4	17	38635967	Silent	SNP	T	TCGA-S9-A7IS-01A-11D-A34A-08		38635967	42559243	53	35184											
NUCB1	4924	broad.mit.edu	37	19	49425109	49425111	+	In_Frame_Del	DEL	AGC	AGC	-			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr19:49425109_49425111delAGC	ENST00000405315.4	+	12	1533_1535	c.1199_1201delAGC	c.(1198-1203)aagcag>aag	p.Q407del	NUCB1_ENST00000407032.1_In_Frame_Del_p.Q407del|NUCB1_ENST00000263273.5_In_Frame_Del_p.Q407del|NUCB1_ENST00000485798.1_3'UTR	NM_006184.5	NP_006175.2	Q02818	NUCB1_HUMAN	nucleobindin 1	407	Poly-Gln.					ER-Golgi intermediate compartment|extracellular space|Golgi apparatus|membrane|microtubule cytoskeleton	calcium ion binding|DNA binding			cervix(1)|endometrium(4)|large_intestine(4)|lung(8)	17		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000171)|all cancers(93;0.000333)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0244)		Gagcagcggaagcagcagcagca	0.64													7	40	---	---	---	---						-	49425111	AGC	-	49425109	7	5	437	1	0	1	0	1	0	0	0	0	10766	72	3	0	1241	0	NUCB1	19	49425109	In_Frame_Del	DEL	AGC	TCGA-S9-A7IS-01A-11D-A34A-08		49425109	9703874	54	35185											
KLK12	43849	broad.mit.edu	37	19	51535256	51535256	+	Silent	SNP	C	C	A			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr19:51535256C>A	ENST00000525263.1	-	3	452	c.333G>T	c.(331-333)ctG>ctT	p.L111L	KLK12_ENST00000250352.11_Intron|KLK12_ENST00000250351.4_Silent_p.L111L|KLK12_ENST00000529888.1_Intron|KLK12_ENST00000319590.4_Silent_p.L111L|CTC-518B2.9_ENST00000594910.1_RNA			Q9UKR0	KLK12_HUMAN	kallikrein-related peptidase 12	111	Peptidase S1.				proteolysis	extracellular region|soluble fraction	serine-type endopeptidase activity			endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	12		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00399)		GCAGCCGCAGCAGCCGGAGGT	0.682													19	21					7.41877e-09	7.73224e-09	1	1	0	A	51535256	C	A	51535256	2	1	437	1	0	0	0	0	0	0	0	1	8443	697	25	5		5	KLK12	19	51535256	Silent	SNP	C	TCGA-S9-A7IS-01A-11D-A34A-08	2110147	51535256	7593727	55	35186											
LILRA4	23547	broad.mit.edu	37	19	54849448	54849448	+	Silent	SNP	G	G	A	rs138743259	byFrequency	TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr19:54849448G>A	ENST00000291759.4	-	4	470	c.414C>T	c.(412-414)aaC>aaT	p.N138N		NM_012276.3	NP_036408.3	P59901	LIRA4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4	138	Ig-like C2-type 2.					integral to membrane	receptor activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	32	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0565)		GGAGGGTCACGTTCACTCCTG	0.572													18	37					0	0	1	0	0	A	54849448	G	A	54849448	2	1	437	1	0	0	0	0	0	0	0	1	8827	1136	40	1		1	LILRA4	19	54849448	Silent	SNP	G	TCGA-S9-A7IS-01A-11D-A34A-08	3314192	54849448	4279535	56	35187											
SEL1L2	80343	broad.mit.edu	37	20	13856732	13856732	+	Silent	SNP	C	C	T			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr20:13856732C>T	ENST00000284951.5	-	12	1130	c.1056G>A	c.(1054-1056)ccG>ccA	p.P352P	SEL1L2_ENST00000486903.1_5'UTR|SEL1L2_ENST00000378072.5_Silent_p.P352P			Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 (C. elegans)	352						integral to membrane	binding	p.P352P(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						CGTTATTTTGCGGCACGGCAG	0.348													45	72					0	0	1	0	0	T	13856732	C	T	13856732	2	4	437	1	0	0	0	0	0	0	0	1	14065	755	27	1		1	SEL1L2	20	13856732	Silent	SNP	C	TCGA-S9-A7IS-01A-11D-A34A-08		13856732	49168788	57	35188											
CD93	22918	broad.mit.edu	37	20	23065956	23065956	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr20:23065956G>A	ENST00000246006.4	-	1	1021	c.874C>T	c.(874-876)Cgg>Tgg	p.R292W		NM_012072.3	NP_036204.2	Q9NPY3	C1QR1_HUMAN	CD93 molecule	292	EGF-like 1.				cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding	p.R292G(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)					TCCAGCAGCCGGAATCCTGGT	0.627													54	80					0	0	1	0	0	A	23065956	G	A	23065956	3	1	437	1	0	0	0	0	1	0	0	0	3069	1115	39	1	1092	1	CD93	20	23065956	Missense_Mutation	SNP	G	TCGA-S9-A7IS-01A-11D-A34A-08	9209224	23065956	39959564	58	35189											
P2RY8	286530	broad.mit.edu	37	X	1585386	1585386	+	Silent	SNP	G	G	A			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chrX:1585386G>A	ENST00000381297.4	-	2	276	c.66C>T	c.(64-66)atC>atT	p.I22I	P2RY8_ENST00000460672.1_5'UTR	NM_178129.4	NP_835230.1	Q86VZ1	P2RY8_HUMAN	purinergic receptor P2Y, G-protein coupled, 8	22						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)	23		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GGGCCACCGCGATCGCCGGGT	0.697			T	CRLF2	"B-ALL, Downs associated ALL"								5	24					0	0	1	0	0	A	1585386	G	A	1585386	2	1	437	1	0	0	0	0	0	0	0	1	11402	1048	37	1		1	P2RY8	23	1585386	Silent	SNP	G	TCGA-S9-A7IS-01A-11D-A34A-08		1585386	153685174	59	35190											
ATRX	546	broad.mit.edu	37	X	76920173	76920173	+	Frame_Shift_Del	DEL	T	T	-			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chrX:76920173delT	ENST00000373344.5	-	11	4118	c.3904delA	c.(3904-3906)agafs	p.R1302fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.R1264fs	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1302					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.R1302fs*7(1)|p.?(1)|p.R1302fs*44(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)	TTTCCAGTTCTTTTTTTCCCT	0.378			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						71	90	---	---	---	---						-	76920173	T	-	76920173	7	5	437	1	0	1	0	1	0	0	0	0	1206	1617	56	0	3674	0	ATRX	23	76920173	Frame_Shift_Del	DEL	T	TCGA-S9-A7IS-01A-11D-A34A-08	75334787	76920173	78350387	60	35191											
RNF113A	7737	broad.mit.edu	37	X	119004589	119004589	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chrX:119004589C>T	ENST00000371442.2	-	1	1202	c.988G>A	c.(988-990)Gac>Aac	p.D330N		NM_006978.2	NP_008909.1	O15541	R113A_HUMAN	ring finger protein 113A	330							nucleic acid binding|zinc ion binding			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(6)	15						TCTGGCAAGTCGGAAGCACCA	0.418													94	150					0	0	1	0	0	T	119004589	C	T	119004589	3	4	437	1	0	0	0	0	1	0	0	0	13479	884	31	1	47	1	RNF113A	23	119004589	Missense_Mutation	SNP	C	TCGA-S9-A7IS-01A-11D-A34A-08	42084416	119004589	36265971	61	35192											
IGSF1	3547	broad.mit.edu	37	X	130409952	130409952	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chrX:130409952A>G	ENST00000370904.1	-	21	3762	c.2852T>C	c.(2851-2853)cTt>cCt	p.L951P	IGSF1_ENST00000467244.1_Intron|IGSF1_ENST00000361420.3_Missense_Mutation_p.L960P|IGSF1_ENST00000370910.1_Missense_Mutation_p.L951P|IGSF1_ENST00000370903.3_Missense_Mutation_p.L965P			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	960	Ig-like C2-type 9.				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						CCAGATCATAAGGGGCATACT	0.507													37	68					0	0	1	0	0	G	130409952	A	G	130409952	3	3	437	1	0	0	0	0	1	0	0	0	7640	72	3	3	1155	3	IGSF1	23	130409952	Missense_Mutation	SNP	A	TCGA-S9-A7IS-01A-11D-A34A-08	11405363	130409952	24860608	62	35193											
MAST2	23139	broad.mit.edu	37	1	46295175	46295175	+	Silent	SNP	G	G	A			TCGA-S9-A7IX-01A-12D-A34A-08	TCGA-S9-A7IX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b2fa849-8bef-4071-b65b-311633bdb61d	9022575a-72fa-44e3-b975-10d3c60e6297	g.chr1:46295175G>A	ENST00000361297.2	+	3	673	c.390G>A	c.(388-390)tcG>tcA	p.S130S	MAST2_ENST00000372009.2_Silent_p.S130S	NM_015112.2	NP_055927.2	Q6P0Q8	MAST2_HUMAN	microtubule associated serine/threonine kinase 2	130					regulation of interleukin-12 biosynthetic process|spermatid differentiation	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity			breast(1)|lung(3)|ovary(5)|stomach(2)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)					CTTGGCAGTCGTCAGGAGAAG	0.468													18	42					0	0	1	0	0	A	46295175	G	A	46295175	2	1	438	1	0	0	0	0	0	0	0	1	9375	1132	40	1		1	MAST2	1	46295175	Silent	SNP	G	TCGA-S9-A7IX-01A-12D-A34A-08		46295175	202955446	1	35194											
ECHDC2	55268	broad.mit.edu	37	1	53377301	53377301	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7IX-01A-12D-A34A-08	TCGA-S9-A7IX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b2fa849-8bef-4071-b65b-311633bdb61d	9022575a-72fa-44e3-b975-10d3c60e6297	g.chr1:53377301G>A	ENST00000536120.1	-	6	893	c.76C>T	c.(76-78)Cgg>Tgg	p.R26W	ECHDC2_ENST00000480312.2_5'UTR|ECHDC2_ENST00000541281.1_Missense_Mutation_p.R26W|ECHDC2_ENST00000358358.5_Missense_Mutation_p.R72W|ECHDC2_ENST00000371522.4_Missense_Mutation_p.R72W			Q86YB7	ECHD2_HUMAN	enoyl CoA hydratase domain containing 2	72					fatty acid metabolic process	mitochondrion	lyase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	12						CGGTCCTCCCGCAGCTGGGCC	0.612													3	42					0	0	1	0	0	A	53377301	G	A	53377301	3	1	438	1	0	0	0	0	1	0	0	0	4920	1086	38	1	599	1	ECHDC2	1	53377301	Missense_Mutation	SNP	G	TCGA-S9-A7IX-01A-12D-A34A-08	7082126	53377301	195873320	2	35195											
TGFBR3	7049	broad.mit.edu	37	1	92181894	92181894	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A7IX-01A-12D-A34A-08	TCGA-S9-A7IX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b2fa849-8bef-4071-b65b-311633bdb61d	9022575a-72fa-44e3-b975-10d3c60e6297	g.chr1:92181894C>T	ENST00000212355.4	-	12	2230	c.1765G>A	c.(1765-1767)Gga>Aga	p.G589R	TGFBR3_ENST00000525962.1_Missense_Mutation_p.G589R|TGFBR3_ENST00000370399.2_Missense_Mutation_p.G588R	NM_001195683.1|NM_003243.4	NP_001182612.1|NP_003234.2	Q03167	TGBR3_HUMAN	transforming growth factor, beta receptor III	589	ZP.				BMP signaling pathway|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cell growth|cell migration|definitive erythrocyte differentiation|heart trabecula formation|immune response|intracellular protein kinase cascade|liver development|negative regulation of cellular component movement|negative regulation of epithelial cell proliferation|palate development|pathway-restricted SMAD protein phosphorylation|response to follicle-stimulating hormone stimulus|response to luteinizing hormone stimulus|response to prostaglandin E stimulus|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis	external side of plasma membrane|extracellular space|inhibin-betaglycan-ActRII complex|integral to plasma membrane|intracellular membrane-bounded organelle	coreceptor activity|heparin binding|PDZ domain binding|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type III|type II transforming growth factor beta receptor binding			endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3)	55		all_lung(203;0.00719)|Lung NSC(277;0.0268)		all cancers(265;0.0108)|Epithelial(280;0.0825)		GTGATGTTTCCGTGGGGCTGT	0.483													16	44					0	0	1	0	0	T	92181894	C	T	92181894	3	4	438	1	0	0	0	0	1	0	0	0	15883	661	23	1	814	1	TGFBR3	1	92181894	Missense_Mutation	SNP	C	TCGA-S9-A7IX-01A-12D-A34A-08	38804593	92181894	157068727	3	35196											
HIST2H3D	653604	broad.mit.edu	37	1	149784871	149784871	+	Silent	SNP	G	G	C			TCGA-S9-A7IX-01A-12D-A34A-08	TCGA-S9-A7IX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b2fa849-8bef-4071-b65b-311633bdb61d	9022575a-72fa-44e3-b975-10d3c60e6297	g.chr1:149784871G>C	ENST00000331491.1	-	1	365	c.366C>G	c.(364-366)ccC>ccG	p.P122P		NM_001123375.2	NP_001116847.1	Q71DI3	H32_HUMAN	histone cluster 2, H3d	122					blood coagulation|nucleosome assembly	nucleoplasm|nucleosome	DNA binding|protein binding			biliary_tract(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(3)	7						GGATGTCCTTGGGCATGATGG	0.602													20	47					0	0	1	0	0	C	149784871	G	C	149784871	2	2	438	1	0	0	0	0	0	0	0	1	7222	1335	47	5		5	HIST2H3D	1	149784871	Silent	SNP	G	TCGA-S9-A7IX-01A-12D-A34A-08	57602977	149784871	99465750	4	35197											
TBX19	9095	broad.mit.edu	37	1	168282171	168282171	+	Silent	SNP	G	G	A			TCGA-S9-A7IX-01A-12D-A34A-08	TCGA-S9-A7IX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b2fa849-8bef-4071-b65b-311633bdb61d	9022575a-72fa-44e3-b975-10d3c60e6297	g.chr1:168282171G>A	ENST00000367821.3	+	8	1329	c.1278G>A	c.(1276-1278)tcG>tcA	p.S426S	TBX19_ENST00000465440.1_3'UTR	NM_005149.2	NP_005140.1	O60806	TBX19_HUMAN	T-box 19	426					anatomical structure morphogenesis	nucleus	DNA binding			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(11)|prostate(2)|skin(2)|urinary_tract(1)	34	all_hematologic(923;0.215)					CAGTGGCCTCGCATCCCTTCG	0.627													9	29					0	0	1	0	0	A	168282171	G	A	168282171	2	1	438	1	0	0	0	0	0	0	0	1	15714	1074	38	1		1	TBX19	1	168282171	Silent	SNP	G	TCGA-S9-A7IX-01A-12D-A34A-08	18497300	168282171	80968450	5	35198											
PTPRC	5788	broad.mit.edu	37	1	198711064	198711064	+	Missense_Mutation	SNP	G	G	C			TCGA-S9-A7IX-01A-12D-A34A-08	TCGA-S9-A7IX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b2fa849-8bef-4071-b65b-311633bdb61d	9022575a-72fa-44e3-b975-10d3c60e6297	g.chr1:198711064G>C	ENST00000367376.2	+	24	2635	c.2464G>C	c.(2464-2466)Gtg>Ctg	p.V822L	PTPRC_ENST00000348564.6_Missense_Mutation_p.V663L|PTPRC_ENST00000594404.1_Missense_Mutation_p.V661L|PTPRC_ENST00000442510.2_Missense_Mutation_p.V824L|PTPRC_ENST00000352140.3_Missense_Mutation_p.V774L	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	822	Tyrosine-protein phosphatase 1.				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						AGACCACGGGGTGCCTGAGGA	0.453													14	35					0	0	1	0	0	C	198711064	G	C	198711064	3	2	438	1	0	0	0	0	1	0	0	0	12849	1261	44	5	2565	5	PTPRC	1	198711064	Missense_Mutation	SNP	G	TCGA-S9-A7IX-01A-12D-A34A-08	30428893	198711064	50539557	6	35199											
NPHP1	4867	broad.mit.edu	37	2	110904384	110904384	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A7IX-01A-12D-A34A-08	TCGA-S9-A7IX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b2fa849-8bef-4071-b65b-311633bdb61d	9022575a-72fa-44e3-b975-10d3c60e6297	g.chr2:110904384C>T	ENST00000316534.4	-	14	1539	c.1466G>A	c.(1465-1467)tGt>tAt	p.C489Y	NPHP1_ENST00000445609.2_Missense_Mutation_p.C433Y|NPHP1_ENST00000355301.4_Missense_Mutation_p.C370Y|NPHP1_ENST00000417665.1_Missense_Mutation_p.C432Y|NPHP1_ENST00000393272.3_Missense_Mutation_p.C488Y			O15259	NPHP1_HUMAN	nephronophthisis 1 (juvenile)	488					actin cytoskeleton organization|cell projection organization|cell-cell adhesion|excretion|retina development in camera-type eye|signal transduction|spermatid differentiation|visual behavior	adherens junction|cell-cell junction|cilium axoneme|cytoplasm|cytoskeleton|motile cilium|photoreceptor connecting cilium	protein binding|structural molecule activity			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(2)	24						CACCCAGCCACAGCTTAACTC	0.358													19	51					0	0	1	0	0	T	110904384	C	T	110904384	3	4	438	1	0	0	0	0	1	0	0	0	10626	478	17	2	763	2	NPHP1	2	110904384	Missense_Mutation	SNP	C	TCGA-S9-A7IX-01A-12D-A34A-08		110904384	132294989	7	35200											
TTN	7273	broad.mit.edu	37	2	179394741	179394741	+	Missense_Mutation	SNP	T	T	A			TCGA-S9-A7IX-01A-12D-A34A-08	TCGA-S9-A7IX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b2fa849-8bef-4071-b65b-311633bdb61d	9022575a-72fa-44e3-b975-10d3c60e6297	g.chr2:179394741T>A	ENST00000589042.1	-	359	106701	c.106477A>T	c.(106477-106479)Aca>Tca	p.T35493S	TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.T26553S|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.T33852S|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.T26428S|TTN_ENST00000342175.6_Missense_Mutation_p.T26620S|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.T32925S|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	33852							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTTTTACTGTACAAGTATAA	0.348													16	54					0	0	1	0	0	A	179394741	T	A	179394741	3	1	438	1	0	0	0	0	1	0	0	0	16797	1638	57	5	1518	5	TTN	2	179394741	Missense_Mutation	SNP	T	TCGA-S9-A7IX-01A-12D-A34A-08	68490357	179394741	63804632	8	35201											
STK11IP	114790	broad.mit.edu	37	2	220473305	220473305	+	Splice_Site	SNP	C	C	T			TCGA-S9-A7IX-01A-12D-A34A-08	TCGA-S9-A7IX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b2fa849-8bef-4071-b65b-311633bdb61d	9022575a-72fa-44e3-b975-10d3c60e6297	g.chr2:220473305C>T	ENST00000456909.1	+	15	1694	c.1604C>T	c.(1603-1605)gCg>gTg	p.A535V	STK11IP_ENST00000295641.10_Splice_Site_p.A546V			Q8N1F8	S11IP_HUMAN	serine/threonine kinase 11 interacting protein	546	Glu-rich.				protein localization	cytoplasm	protein kinase binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1)	23		Renal(207;0.0183)		Epithelial(149;2.69e-07)|all cancers(144;5.91e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CTCTCCACAGCGGAACTCTGT	0.632													13	32					0	0	1	0	0	T	220473305	C	T	220473305	5	4	438	1	0	0	0	0	0	0	1	0	15344	782	27	1	1695	1	STK11IP	2	220473305	Splice_Site	SNP	C	TCGA-S9-A7IX-01A-12D-A34A-08	41078564	220473305	22726068	9	35202											
MAGI1	9223	broad.mit.edu	37	3	65342560	65342560	+	Silent	SNP	G	G	A			TCGA-S9-A7IX-01A-12D-A34A-08	TCGA-S9-A7IX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b2fa849-8bef-4071-b65b-311633bdb61d	9022575a-72fa-44e3-b975-10d3c60e6297	g.chr3:65342560G>A	ENST00000402939.2	-	23	3881	c.3882C>T	c.(3880-3882)tgC>tgT	p.C1294C	MAGI1_ENST00000330909.8_3'UTR	NM_001033057.1	NP_001028229.1	Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	1323					cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding	p.C1294C(2)		breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		CCTTGGGTCGGCATGCCCCGC	0.672													4	61					0	0	1	0	0	A	65342560	G	A	65342560	2	1	438	1	0	0	0	0	0	0	0	1	9240	1195	42	2		2	MAGI1	3	65342560	Silent	SNP	G	TCGA-S9-A7IX-01A-12D-A34A-08		65342560	132679870	10	35203											
RPL24	6152	broad.mit.edu	37	3	101401316	101401316	+	Frame_Shift_Del	DEL	T	T	-			TCGA-S9-A7IX-01A-12D-A34A-08	TCGA-S9-A7IX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b2fa849-8bef-4071-b65b-311633bdb61d	9022575a-72fa-44e3-b975-10d3c60e6297	g.chr3:101401316delT	ENST00000469605.1	-	5	368	c.350delA	c.(349-351)aagfs	p.K117fs	RPL24_ENST00000495401.1_Intron|RPL24_ENST00000394077.3_Frame_Shift_Del_p.K117fs			P83731	RL24_HUMAN	ribosomal protein L24	117					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	protein binding|RNA binding|structural constituent of ribosome			large_intestine(1)|lung(2)|urinary_tract(1)	4						TTGCTTAGCCTTTTTTGCTTC	0.368													7	147	---	---	---	---						-	101401316	T	-	101401316	7	5	438	1	0	1	0	1	0	0	0	0	13624	1609	56	0	131	0	RPL24	3	101401316	Frame_Shift_Del	DEL	T	TCGA-S9-A7IX-01A-12D-A34A-08	36058756	101401316	96621114	11	35204											
MYLK	4638	broad.mit.edu	37	3	123359181	123359181	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7IX-01A-12D-A34A-08	TCGA-S9-A7IX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b2fa849-8bef-4071-b65b-311633bdb61d	9022575a-72fa-44e3-b975-10d3c60e6297	g.chr3:123359181G>A	ENST00000360772.3	-	29	5168	c.4790C>T	c.(4789-4791)aCg>aTg	p.T1597M	MYLK_ENST00000360304.3_Missense_Mutation_p.T1597M|MYLK_ENST00000346322.5_Missense_Mutation_p.T1528M|MYLK_ENST00000475616.1_Missense_Mutation_p.T1597M|MYLK_ENST00000359169.1_Missense_Mutation_p.T1597M|MYLK-AS1_ENST00000485162.1_RNA|MYLK_ENST00000354792.5_Missense_Mutation_p.T397M			Q15746	MYLK_HUMAN	myosin light chain kinase	1597	Protein kinase.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		CCTGGTGCCCGTCTTGTTGAC	0.562													4	113					0	0	1	0	0	A	123359181	G	A	123359181	3	1	438	1	0	0	0	0	1	0	0	0	10104	1145	40	1	982	1	MYLK	3	123359181	Missense_Mutation	SNP	G	TCGA-S9-A7IX-01A-12D-A34A-08	21957865	123359181	74663249	12	35205											
UGT2B4	7363	broad.mit.edu	37	4	70346534	70346534	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7IX-01A-12D-A34A-08	TCGA-S9-A7IX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b2fa849-8bef-4071-b65b-311633bdb61d	9022575a-72fa-44e3-b975-10d3c60e6297	g.chr4:70346534G>A	ENST00000305107.6	-	6	1451	c.1405C>T	c.(1405-1407)Cgc>Tgc	p.R469C	UGT2B4_ENST00000381096.3_Missense_Mutation_p.R333C|UGT2B4_ENST00000506580.1_5'UTR|UGT2B4_ENST00000512583.1_3'UTR	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B4	469					estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47						CCTTTATGGCGCATGACAAAT	0.478													45	136					0	0	1	0	0	A	70346534	G	A	70346534	3	1	438	1	0	0	0	0	1	0	0	0	17021	1087	38	1	185	1	UGT2B4	4	70346534	Missense_Mutation	SNP	G	TCGA-S9-A7IX-01A-12D-A34A-08		70346534	120807742	13	35206											
PCDHB3	56132	broad.mit.edu	37	5	140482266	140482266	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A7IX-01A-12D-A34A-08	TCGA-S9-A7IX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b2fa849-8bef-4071-b65b-311633bdb61d	9022575a-72fa-44e3-b975-10d3c60e6297	g.chr5:140482266C>T	ENST00000231130.2	+	1	2033	c.2033C>T	c.(2032-2034)cCg>cTg	p.P678L		NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN		678					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GAGGCGGCACCGGCCCAGGCC	0.672													45	117					0	0	1	0	0	T	140482266	C	T	140482266	3	4	438	1	0	0	0	0	1	0	0	0	11590	652	23	1	2035	1	PCDHB3	5	140482266	Missense_Mutation	SNP	C	TCGA-S9-A7IX-01A-12D-A34A-08		140482266	40432994	14	35207											
GRM4	2914	broad.mit.edu	37	6	34059820	34059820	+	Silent	SNP	G	G	A			TCGA-S9-A7IX-01A-12D-A34A-08	TCGA-S9-A7IX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b2fa849-8bef-4071-b65b-311633bdb61d	9022575a-72fa-44e3-b975-10d3c60e6297	g.chr6:34059820G>A	ENST00000538487.2	-	3	1019	c.576C>T	c.(574-576)taC>taT	p.Y192Y	GRM4_ENST00000535756.1_Silent_p.Y59Y|GRM4_ENST00000609222.1_Silent_p.Y59Y|GRM4_ENST00000374181.4_Silent_p.Y192Y|GRM4_ENST00000544773.2_Silent_p.Y23Y|GRM4_ENST00000374177.3_Silent_p.Y123Y|GRM4_ENST00000455714.2_Silent_p.Y52Y	NM_000841.2|NM_001256811.1	NP_000832.1|NP_001243740.1	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4						activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48					L-Glutamic Acid(DB00142)	AGAAGAAGTCGTAGCGGCTGT	0.637													21	45					0	0	1	0	0	A	34059820	G	A	34059820	2	1	438	1	0	0	0	0	0	0	0	1	6840	1140	40	1		1	GRM4	6	34059820	Silent	SNP	G	TCGA-S9-A7IX-01A-12D-A34A-08		34059820	137055247	15	35208											
MED23	9439	broad.mit.edu	37	6	131923454	131923454	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7IX-01A-12D-A34A-08	TCGA-S9-A7IX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b2fa849-8bef-4071-b65b-311633bdb61d	9022575a-72fa-44e3-b975-10d3c60e6297	g.chr6:131923454G>A	ENST00000403834.3	-	17	2190	c.2017C>T	c.(2017-2019)Cgc>Tgc	p.R673C	MED23_ENST00000354577.4_Missense_Mutation_p.R673C|MED23_ENST00000539158.1_3'UTR|MED23_ENST00000368068.3_Missense_Mutation_p.R667C|MED23_ENST00000368053.4_Missense_Mutation_p.R673C|MED23_ENST00000368058.1_Missense_Mutation_p.R673C|MED23_ENST00000368060.3_Missense_Mutation_p.R667C|MED23_ENST00000540546.1_Missense_Mutation_p.R673C|MED23_ENST00000545957.1_Missense_Mutation_p.R308C			Q9ULK4	MED23_HUMAN	mediator complex subunit 23	667					regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor complex	protein binding|transcription coactivator activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	44	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)		CTAAGGAAGCGTGTAAACTGC	0.433													4	105					0	0	1	0	0	A	131923454	G	A	131923454	3	1	438	1	0	0	0	0	1	0	0	0	9491	1145	40	1	2166	1	MED23	6	131923454	Missense_Mutation	SNP	G	TCGA-S9-A7IX-01A-12D-A34A-08	97863634	131923454	39191613	16	35209											
SAMD5	389432	broad.mit.edu	37	6	148018465	148018465	+	RNA	DEL	A	A	-			TCGA-S9-A7IX-01A-12D-A34A-08	TCGA-S9-A7IX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b2fa849-8bef-4071-b65b-311633bdb61d	9022575a-72fa-44e3-b975-10d3c60e6297	g.chr6:148018465delA	ENST00000427015.1	+	0	117																											TTTGTTCTCTAAACCCAGTTT	0.388													2	4	---	---	---	---						-	148018465	A	-	148018465	6	5	438	0	1	1	0	1	0	0	0	0	13875	377	13	0		0	SAMD5	6	148018465	RNA	DEL	A	TCGA-S9-A7IX-01A-12D-A34A-08	16095011	148018465	23096602	17	35210											
EGFR	1956	broad.mit.edu	37	7	55210075	55210075	+	Missense_Mutation	SNP	T	T	G			TCGA-S9-A7IX-01A-12D-A34A-08	TCGA-S9-A7IX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b2fa849-8bef-4071-b65b-311633bdb61d	9022575a-72fa-44e3-b975-10d3c60e6297	g.chr7:55210075T>G	ENST00000275493.2	+	2	362	c.185T>G	c.(184-186)cTt>cGt	p.L62R	EGFR_ENST00000342916.3_Missense_Mutation_p.L62R|EGFR_ENST00000344576.2_Missense_Mutation_p.L62R|EGFR_ENST00000454757.2_Missense_Mutation_p.L9R|EGFR_ENST00000442591.1_Missense_Mutation_p.L62R|EGFR_ENST00000420316.2_Missense_Mutation_p.L62R|EGFR_ENST00000455089.1_Missense_Mutation_p.L62R	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	62					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.L62R(3)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	GAGGTGGTCCTTGGGAATTTG	0.408		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			1332	72					0	0	1	0	0	G	55210075	T	G	55210075	3	3	438	1	0	0	0	0	1	0	0	0	4993	1609	56	5	191	5	EGFR	7	55210075	Missense_Mutation	SNP	T	TCGA-S9-A7IX-01A-12D-A34A-08		55210075	103928588	18	35211											
FLNC	2318	broad.mit.edu	37	7	128470957	128470957	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7IX-01A-12D-A34A-08	TCGA-S9-A7IX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b2fa849-8bef-4071-b65b-311633bdb61d	9022575a-72fa-44e3-b975-10d3c60e6297	g.chr7:128470957G>A	ENST00000325888.8	+	1	527	c.266G>A	c.(265-267)cGc>cAc	p.R89H	FLNC_ENST00000346177.6_Missense_Mutation_p.R89H	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	89	Actin-binding.|CH 1.				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						TTCCATCCGCGCCCCAACTTC	0.652													20	66					0	0	1	0	0	A	128470957	G	A	128470957	3	1	438	1	0	0	0	0	1	0	0	0	5968	1087	38	1	268	1	FLNC	7	128470957	Missense_Mutation	SNP	G	TCGA-S9-A7IX-01A-12D-A34A-08	73260882	128470957	30667706	19	35212											
BNC2	54796	broad.mit.edu	37	9	16727916	16727916	+	Nonsense_Mutation	SNP	A	A	C			TCGA-S9-A7IX-01A-12D-A34A-08	TCGA-S9-A7IX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b2fa849-8bef-4071-b65b-311633bdb61d	9022575a-72fa-44e3-b975-10d3c60e6297	g.chr9:16727916A>C	ENST00000380672.4	-	3	266	c.209T>G	c.(208-210)tTa>tGa	p.L70*	BNC2_ENST00000545497.1_Intron|BNC2_ENST00000380667.2_Intron|BNC2_ENST00000380666.2_Nonsense_Mutation_p.L70*	NM_017637.5	NP_060107.3	Q6ZN30	BNC2_HUMAN	basonuclin 2	70					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		GGAGTCTCTTAAAGTCAAGtc	0.483													35	70					0	0	1	0	0	C	16727916	A	C	16727916	4	2	438	1	0	0	0	0	0	1	0	0	1474	372	13	5	3110	5	BNC2	9	16727916	Nonsense_Mutation	SNP	A	TCGA-S9-A7IX-01A-12D-A34A-08		16727916	124485515	20	35213											
MYOF	26509	broad.mit.edu	37	10	95072807	95072807	+	Silent	SNP	G	G	A			TCGA-S9-A7IX-01A-12D-A34A-08	TCGA-S9-A7IX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b2fa849-8bef-4071-b65b-311633bdb61d	9022575a-72fa-44e3-b975-10d3c60e6297	g.chr10:95072807G>A	ENST00000371501.4	-	51	5981	c.5859C>T	c.(5857-5859)taC>taT	p.Y1953Y	MYOF_ENST00000358334.5_Silent_p.Y1940Y|MYOF_ENST00000359263.4_Silent_p.Y1953Y|MYOF_ENST00000371502.4_Silent_p.Y1943Y			Q9NZM1	MYOF_HUMAN	myoferlin	1953					blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						CTTTCTCTGCGTAGCATGGCC	0.473													11	318					0	0	1	0	0	A	95072807	G	A	95072807	2	1	438	1	0	0	0	0	0	0	0	1	10137	1140	40	1		1	MYOF	10	95072807	Silent	SNP	G	TCGA-S9-A7IX-01A-12D-A34A-08		95072807	40461940	21	35214											
TLL2	7093	broad.mit.edu	37	10	98129890	98129890	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A7IX-01A-12D-A34A-08	TCGA-S9-A7IX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b2fa849-8bef-4071-b65b-311633bdb61d	9022575a-72fa-44e3-b975-10d3c60e6297	g.chr10:98129890C>T	ENST00000357947.3	-	20	3070	c.2845G>A	c.(2845-2847)Gac>Aac	p.D949N		NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN	tolloid-like 2	949	CUB 5.				cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		TCCATGTAGTCGTAGCCGCAG	0.662													15	18					0	0	1	0	0	T	98129890	C	T	98129890	3	4	438	1	0	0	0	0	1	0	0	0	16006	884	31	1	210	1	TLL2	10	98129890	Missense_Mutation	SNP	C	TCGA-S9-A7IX-01A-12D-A34A-08	3057083	98129890	37404857	22	35215											
OR4D9	390199	broad.mit.edu	37	11	59282742	59282742	+	Silent	SNP	G	G	A			TCGA-S9-A7IX-01A-12D-A34A-08	TCGA-S9-A7IX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b2fa849-8bef-4071-b65b-311633bdb61d	9022575a-72fa-44e3-b975-10d3c60e6297	g.chr11:59282742G>A	ENST00000329328.3	+	1	357	c.357G>A	c.(355-357)gcG>gcA	p.A119A		NM_001004711.1	NP_001004711.1	Q8NGE8	OR4D9_HUMAN	olfactory receptor, family 4, subfamily D, member 9	119					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|prostate(5)|upper_aerodigestive_tract(1)	26						CTGTGATGGCGTTTGACCGCT	0.522													7	85					0	0	1	0	0	A	59282742	G	A	59282742	2	1	438	1	0	0	0	0	0	0	0	1	11107	1132	40	1		1	OR4D9	11	59282742	Silent	SNP	G	TCGA-S9-A7IX-01A-12D-A34A-08		59282742	75723774	23	35216											
CLEC12A	160364	broad.mit.edu	37	12	10131592	10131592	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7IX-01A-12D-A34A-08	TCGA-S9-A7IX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b2fa849-8bef-4071-b65b-311633bdb61d	9022575a-72fa-44e3-b975-10d3c60e6297	g.chr12:10131592G>A	ENST00000304361.4	+	2	301	c.119G>A	c.(118-120)cGt>cAt	p.R40H	CLEC12A_ENST00000355690.4_Missense_Mutation_p.R50H|CLEC12A_ENST00000434319.2_Missense_Mutation_p.R40H|CLEC12A_ENST00000350667.4_Intron	NM_138337.5|NM_201623.3	NP_612210.4|NP_963917.2	Q5QGZ9	CL12A_HUMAN	C-type lectin domain family 12, member A	40						integral to membrane|plasma membrane	receptor activity|sugar binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	16						CATGTATGGCGTCCAGCAGCC	0.438													32	61					0	0	1	0	0	A	10131592	G	A	10131592	3	1	438	1	0	0	0	0	1	0	0	0	3520	1145	40	1	125	1	CLEC12A	12	10131592	Missense_Mutation	SNP	G	TCGA-S9-A7IX-01A-12D-A34A-08		10131592	123720303	24	35217											
TAS2R9	50835	broad.mit.edu	37	12	10962396	10962396	+	Silent	SNP	A	A	G			TCGA-S9-A7IX-01A-12D-A34A-08	TCGA-S9-A7IX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b2fa849-8bef-4071-b65b-311633bdb61d	9022575a-72fa-44e3-b975-10d3c60e6297	g.chr12:10962396A>G	ENST00000240691.2	-	1	371	c.279T>C	c.(277-279)aaT>aaC	p.N93N		NM_023917.2	NP_076406.1	Q9NYW1	TA2R9_HUMAN	taste receptor, type 2, member 9	93					sensory perception of taste	integral to membrane	taste receptor activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						GACTTGAATTATTGGCAAATG	0.383													16	35					0	0	1	0	0	G	10962396	A	G	10962396	2	3	438	1	0	0	0	0	0	0	0	1	15645	446	16	3		3	TAS2R9	12	10962396	Silent	SNP	A	TCGA-S9-A7IX-01A-12D-A34A-08	830804	10962396	122889499	25	35218											
KRT79	338785	broad.mit.edu	37	12	53227629	53227629	+	Missense_Mutation	SNP	C	C	G	rs140416696	byFrequency	TCGA-S9-A7IX-01A-12D-A34A-08	TCGA-S9-A7IX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b2fa849-8bef-4071-b65b-311633bdb61d	9022575a-72fa-44e3-b975-10d3c60e6297	g.chr12:53227629C>G	ENST00000330553.5	-	1	450	c.416G>C	c.(415-417)cGc>cCc	p.R139P		NM_175834.2	NP_787028.1	Q5XKE5	K2C79_HUMAN	keratin 79	139	Head.					keratin filament	structural molecule activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CTCCTGAGTGCGCACTCGCTG	0.607													34	96					0	0	1	0	0	G	53227629	C	G	53227629	3	3	438	1	0	0	0	0	1	0	0	0	8535	768	27	5	1227	5	KRT79	12	53227629	Missense_Mutation	SNP	C	TCGA-S9-A7IX-01A-12D-A34A-08	42265233	53227629	80624266	26	35219											
ANAPC5	51433	broad.mit.edu	37	12	121766164	121766164	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A7IX-01A-12D-A34A-08	TCGA-S9-A7IX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b2fa849-8bef-4071-b65b-311633bdb61d	9022575a-72fa-44e3-b975-10d3c60e6297	g.chr12:121766164A>G	ENST00000261819.3	-	10	1380	c.1259T>C	c.(1258-1260)aTc>aCc	p.I420T	ANAPC5_ENST00000535482.1_Missense_Mutation_p.I86T|ANAPC5_ENST00000541887.1_Missense_Mutation_p.I407T|ANAPC5_ENST00000544314.1_5'UTR|ANAPC5_ENST00000344395.4_Missense_Mutation_p.I308T|ANAPC5_ENST00000441917.2_Missense_Mutation_p.I308T	NM_016237.4	NP_057321.2	Q9UJX4	APC5_HUMAN	anaphase promoting complex subunit 5	420					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding|ubiquitin-protein ligase activity			breast(6)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(3)	31	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					TGCGATGCTGATATCGATGAG	0.547													10	24					0	0	1	0	0	G	121766164	A	G	121766164	3	3	438	1	0	0	0	0	1	0	0	0	601	333	12	3	1040	3	ANAPC5	12	121766164	Missense_Mutation	SNP	A	TCGA-S9-A7IX-01A-12D-A34A-08	68538535	121766164	12085731	27	35220											
BRCA2	675	broad.mit.edu	37	13	32914649	32914649	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A7IX-01A-12D-A34A-08	TCGA-S9-A7IX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b2fa849-8bef-4071-b65b-311633bdb61d	9022575a-72fa-44e3-b975-10d3c60e6297	g.chr13:32914649T>C	ENST00000544455.1	+	11	6384	c.6157T>C	c.(6157-6159)Tct>Cct	p.S2053P	BRCA2_ENST00000380152.3_Missense_Mutation_p.S2053P	NM_000059.3	NP_000050	P51587	BRCA2_HUMAN	breast cancer 2, early onset	2053					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		GGTAAATTCATCTGCTTTCTC	0.348			"D, Mis, N, F, S"		"breast, ovarian, pancreatic"	"breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			21	17					0	0	1	0	0	C	32914649	T	C	32914649	3	2	438	1	0	0	0	0	1	0	0	0	1501	1435	50	3	6195	3	BRCA2	13	32914649	Missense_Mutation	SNP	T	TCGA-S9-A7IX-01A-12D-A34A-08		32914649	82255229	28	35221											
TRPC4	7223	broad.mit.edu	37	13	38225434	38225434	+	Nonsense_Mutation	SNP	T	T	A			TCGA-S9-A7IX-01A-12D-A34A-08	TCGA-S9-A7IX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b2fa849-8bef-4071-b65b-311633bdb61d	9022575a-72fa-44e3-b975-10d3c60e6297	g.chr13:38225434T>A	ENST00000379705.3	-	8	2904	c.2047A>T	c.(2047-2049)Aga>Tga	p.R683*	TRPC4_ENST00000338947.5_Nonsense_Mutation_p.R510*|TRPC4_ENST00000379679.1_Nonsense_Mutation_p.R510*|TRPC4_ENST00000355779.2_Nonsense_Mutation_p.R683*|TRPC4_ENST00000379673.2_Intron|TRPC4_ENST00000447043.1_Nonsense_Mutation_p.R683*|TRPC4_ENST00000379681.3_Nonsense_Mutation_p.R683*|TRPC4_ENST00000358477.2_Nonsense_Mutation_p.R683*|TRPC4_ENST00000426868.2_3'UTR			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	683	Binds to ITPR1, ITPR2 and ITPR3.				axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		GGCTTTCTTCTCATCTTTTTC	0.383													28	37					0	0	1	0	0	A	38225434	T	A	38225434	4	1	438	1	0	0	0	0	0	1	0	0	16641	1559	54	5	917	5	TRPC4	13	38225434	Nonsense_Mutation	SNP	T	TCGA-S9-A7IX-01A-12D-A34A-08	5310785	38225434	76944444	29	35222											
PGBD4	161779	broad.mit.edu	37	15	34394773	34394773	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7IX-01A-12D-A34A-08	TCGA-S9-A7IX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b2fa849-8bef-4071-b65b-311633bdb61d	9022575a-72fa-44e3-b975-10d3c60e6297	g.chr15:34394773G>A	ENST00000397766.2	+	1	500	c.41G>A	c.(40-42)aGt>aAt	p.S14N		NM_152595.4	NP_689808.2	Q96DM1	PGBD4_HUMAN	piggyBac transposable element derived 4	14										breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|pancreas(1)|prostate(1)	16		all_lung(180;1.76e-08)		all cancers(64;1.22e-17)|GBM - Glioblastoma multiforme(113;1.78e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0242)		atgcgtgatagtaataccggt	0.348													5	5					0	0	1	0	0	A	34394773	G	A	34394773	3	1	438	1	0	0	0	0	1	0	0	0	11831	1029	36	2	43	2	PGBD4	15	34394773	Missense_Mutation	SNP	G	TCGA-S9-A7IX-01A-12D-A34A-08		34394773	68136619	30	35223											
CSPG4	1464	broad.mit.edu	37	15	75979718	75979718	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A7IX-01A-12D-A34A-08	TCGA-S9-A7IX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b2fa849-8bef-4071-b65b-311633bdb61d	9022575a-72fa-44e3-b975-10d3c60e6297	g.chr15:75979718T>C	ENST00000308508.5	-	3	3780	c.3688A>G	c.(3688-3690)Att>Gtt	p.I1230V		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	1230	Gly/Ser-rich (glycosaminoglycan attachment domain).|Interaction with COL5A1 (By similarity).				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						TCTAGGGCAATGGTCACTTGT	0.607													5	91					0	0	1	0	0	C	75979718	T	C	75979718	3	2	438	1	0	0	0	0	1	0	0	0	3985	1464	51	3	3312	3	CSPG4	15	75979718	Missense_Mutation	SNP	T	TCGA-S9-A7IX-01A-12D-A34A-08	41584945	75979718	26551674	31	35224											
IGF1R	3480	broad.mit.edu	37	15	99192881	99192881	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A7IX-01A-12D-A34A-08	TCGA-S9-A7IX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b2fa849-8bef-4071-b65b-311633bdb61d	9022575a-72fa-44e3-b975-10d3c60e6297	g.chr15:99192881C>T	ENST00000268035.6	+	1	682	c.71C>T	c.(70-72)tCg>tTg	p.S24L	IGF1R_ENST00000558762.1_Missense_Mutation_p.S24L	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	24					anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)	GCCGCGCTCTCGCTCTGGCCG	0.622													13	30					0	0	1	0	0	T	99192881	C	T	99192881	3	4	438	1	0	0	0	0	1	0	0	0	7615	893	31	1	73	1	IGF1R	15	99192881	Missense_Mutation	SNP	C	TCGA-S9-A7IX-01A-12D-A34A-08	23213163	99192881	3338511	32	35225											
SEC14L5	9717	broad.mit.edu	37	16	5055945	5055945	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A7IX-01A-12D-A34A-08	TCGA-S9-A7IX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b2fa849-8bef-4071-b65b-311633bdb61d	9022575a-72fa-44e3-b975-10d3c60e6297	g.chr16:5055945C>T	ENST00000251170.7	+	12	1513	c.1333C>T	c.(1333-1335)Cgg>Tgg	p.R445W		NM_014692.1	NP_055507.1	O43304	S14L5_HUMAN	SEC14-like 5 (S. cerevisiae)	445	CRAL-TRIO.					integral to membrane|intracellular	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|skin(1)	29						GAACACCAGGCGGAAGTTCCT	0.483													4	8					0	0	1	0	0	T	5055945	C	T	5055945	3	4	438	1	0	0	0	0	1	0	0	0	14039	759	27	1	1375	1	SEC14L5	16	5055945	Missense_Mutation	SNP	C	TCGA-S9-A7IX-01A-12D-A34A-08		5055945	85298808	33	35226											
GIT1	28964	broad.mit.edu	37	17	27908355	27908355	+	Splice_Site	SNP	C	C	T			TCGA-S9-A7IX-01A-12D-A34A-08	TCGA-S9-A7IX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b2fa849-8bef-4071-b65b-311633bdb61d	9022575a-72fa-44e3-b975-10d3c60e6297	g.chr17:27908355C>T	ENST00000225394.3	-	7	1010		c.e7+1		GIT1_ENST00000579937.1_Splice_Site|GIT1_ENST00000581348.1_Splice_Site|RP11-68I3.2_ENST00000581474.1_RNA|GIT1_ENST00000394869.3_Splice_Site	NM_014030.3	NP_054749.2	Q9Y2X7	GIT1_HUMAN	G protein-coupled receptor kinase interacting ArfGAP 1						regulation of ARF GTPase activity|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|focal adhesion	ARF GTPase activator activity|protein binding|zinc ion binding			large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9				READ - Rectum adenocarcinoma(3;0.0419)|Colorectal(3;0.069)		TGGGCACTCACCTGTCAGCCA	0.552													9	33					0	0	1	0	0	T	27908355	C	T	27908355	5	4	438	1	0	0	0	0	0	0	1	0	6438	521	18	2	1610	2	GIT1	17	27908355	Splice_Site	SNP	C	TCGA-S9-A7IX-01A-12D-A34A-08		27908355	53286855	34	35227											
NF1	4763	broad.mit.edu	37	17	29562708	29562710	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-S9-A7IX-01A-12D-A34A-08	TCGA-S9-A7IX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b2fa849-8bef-4071-b65b-311633bdb61d	9022575a-72fa-44e3-b975-10d3c60e6297	g.chr17:29562708_29562710delAAG	ENST00000358273.4	+	28	4171_4173	c.3788_3790delAAG	c.(3787-3792)aaagaa>aaa	p.E1264del	NF1_ENST00000356175.3_In_Frame_Del_p.E1264del	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1264	Ras-GAP.				actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(4)|p.E1264K(1)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		ATGTTTTCTAAAGAAGTAGAATT	0.399			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			69	196	---	---	---	---						-	29562710	AAG	-	29562708	7	5	438	1	0	1	0	1	0	0	0	0	10403	14	1	0	3959	0	NF1	17	29562708	In_Frame_Del	DEL	AAG	TCGA-S9-A7IX-01A-12D-A34A-08	1654353	29562708	51632502	35	35228											
WNK4	65266	broad.mit.edu	37	17	40940794	40940794	+	Silent	SNP	G	G	A			TCGA-S9-A7IX-01A-12D-A34A-08	TCGA-S9-A7IX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b2fa849-8bef-4071-b65b-311633bdb61d	9022575a-72fa-44e3-b975-10d3c60e6297	g.chr17:40940794G>A	ENST00000246914.5	+	11	2157	c.2136G>A	c.(2134-2136)ccG>ccA	p.P712P		NM_032387.4	NP_115763.2	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	712					intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		GGGACAGCCCGGAAGAGATTG	0.532													12	39					0	0	1	0	0	A	40940794	G	A	40940794	2	1	438	1	0	0	0	0	0	0	0	1	17440	1103	39	1		1	WNK4	17	40940794	Silent	SNP	G	TCGA-S9-A7IX-01A-12D-A34A-08	11378086	40940794	40254416	36	35229											
KCTD1	284252	broad.mit.edu	37	18	24039836	24039836	+	Missense_Mutation	SNP	C	C	G			TCGA-S9-A7IX-01A-12D-A34A-08	TCGA-S9-A7IX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b2fa849-8bef-4071-b65b-311633bdb61d	9022575a-72fa-44e3-b975-10d3c60e6297	g.chr18:24039836C>G	ENST00000417602.1	-	4	2186	c.2187G>C	c.(2185-2187)ttG>ttC	p.L729F	KCTD1_ENST00000579973.1_Missense_Mutation_p.L121F|KCTD1_ENST00000317932.7_Missense_Mutation_p.L121F|KCTD1_ENST00000408011.3_Missense_Mutation_p.L121F|KCTD1_ENST00000580059.1_Missense_Mutation_p.L121F	NM_001142730.2	NP_001136202.1	Q719H9	KCTD1_HUMAN	potassium channel tetramerization domain containing 1	121					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|voltage-gated potassium channel complex	transcription corepressor activity|transcription factor binding|voltage-gated potassium channel activity			endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(3)	12	all_cancers(21;0.00191)|Lung NSC(5;0.000698)|all_lung(6;0.0019)|Ovarian(20;0.0848)		Epithelial(2;7.8e-06)|OV - Ovarian serous cystadenocarcinoma(3;9.02e-06)|all cancers(3;3.37e-05)			CCATCTCCAACAACATGGGCT	0.448													10	124					0	0	1	0	0	G	24039836	C	G	24039836	3	3	438	1	0	0	0	0	1	0	0	0	8140	477	17	5	418	5	KCTD1	18	24039836	Missense_Mutation	SNP	C	TCGA-S9-A7IX-01A-12D-A34A-08		24039836	54037412	37	35230											
FCGRT	2217	broad.mit.edu	37	19	50028814	50028816	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-S9-A7IX-01A-12D-A34A-08	TCGA-S9-A7IX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b2fa849-8bef-4071-b65b-311633bdb61d	9022575a-72fa-44e3-b975-10d3c60e6297	g.chr19:50028814_50028816delGAG	ENST00000221466.5	+	6	1458_1460	c.972_974delGAG	c.(970-975)atgagg>atg	p.R325del	FCGRT_ENST00000426395.3_In_Frame_Del_p.R325del|FCGRT_ENST00000599988.1_In_Frame_Del_p.R59del|FCGRT_ENST00000596975.1_In_Frame_Del_p.R233del	NM_001136019.2	NP_001129491.1	P55899	FCGRN_HUMAN	Fc fragment of IgG, receptor, transporter, alpha	325					antigen processing and presentation|female pregnancy|immune response	integral to membrane|MHC class I protein complex	IgG binding|receptor activity			endometrium(3)|kidney(2)|lung(1)|ovary(1)|prostate(1)|skin(1)	9		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00291)|GBM - Glioblastoma multiforme(134;0.0156)		GGAGAAGGATGAGGAGTGGGCTG	0.616													13	24	---	---	---	---						-	50028816	GAG	-	50028814	7	5	438	1	0	1	0	1	0	0	0	0	5819	1290	45	0	990	0	FCGRT	19	50028814	In_Frame_Del	DEL	GAG	TCGA-S9-A7IX-01A-12D-A34A-08		50028814	9100169	38	35231											
KIAA2022	340533	broad.mit.edu	37	X	73964003	73964003	+	Missense_Mutation	SNP	C	C	A			TCGA-S9-A7IX-01A-12D-A34A-08	TCGA-S9-A7IX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b2fa849-8bef-4071-b65b-311633bdb61d	9022575a-72fa-44e3-b975-10d3c60e6297	g.chrX:73964003C>A	ENST00000055682.6	-	3	1000	c.389G>T	c.(388-390)gGc>gTc	p.G130V		NM_001008537.2	NP_001008537.1	Q5QGS0	K2022_HUMAN	KIAA2022						base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						AGCTGACATGCCTGCAGGCTC	0.507													40	20					8.16904e-11	8.67961e-11	1	1	0	A	73964003	C	A	73964003	3	1	438	1	0	0	0	0	1	0	0	0	8311	739	26	5	4169	5	KIAA2022	23	73964003	Missense_Mutation	SNP	C	TCGA-S9-A7IX-01A-12D-A34A-08		73964003	81306557	39	35232											
KIAA0319L	79932	broad.mit.edu	37	1	35944787	35944787	+	Silent	SNP	A	A	G			TCGA-S9-A7IY-01A-11D-A34A-08	TCGA-S9-A7IY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c6d8f4-b65d-45d1-be60-bc2582ca5ece	1630984f-6709-413b-841f-d9798f3bf99a	g.chr1:35944787A>G	ENST00000325722.3	-	4	927	c.693T>C	c.(691-693)agT>agC	p.S231S		NM_024874.4	NP_079150.3	Q8IZA0	K319L_HUMAN	KIAA0319-like	231						cytoplasmic vesicle part|integral to membrane	protein binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(12)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	34		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				TGGTTAGGGGACTGGAAATTG	0.408													33	18					0	0	1	0	0	G	35944787	A	G	35944787	2	3	439	1	0	0	0	0	0	0	0	1	8211	272	10	3		3	KIAA0319L	1	35944787	Silent	SNP	A	TCGA-S9-A7IY-01A-11D-A34A-08		35944787	213305834	1	35233											
KCNQ4	9132	broad.mit.edu	37	1	41296926	41296926	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7IY-01A-11D-A34A-08	TCGA-S9-A7IY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c6d8f4-b65d-45d1-be60-bc2582ca5ece	1630984f-6709-413b-841f-d9798f3bf99a	g.chr1:41296926G>A	ENST00000347132.5	+	10	1545	c.1463G>A	c.(1462-1464)cGc>cAc	p.R488H	KCNQ4_ENST00000509682.2_Missense_Mutation_p.R434H|KCNQ4_ENST00000506017.1_3'UTR	NM_004700.3|NM_172163.2	NP_004691.2|NP_751895.1	P56696	KCNQ4_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 4	488					sensory perception of sound	basal plasma membrane|voltage-gated potassium channel complex				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(13)|skin(1)	26	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.38e-17)			TTCAATGACCGCACCCGCTTC	0.652													5	2					0	0	1	0	0	A	41296926	G	A	41296926	3	1	439	1	0	0	0	0	1	0	0	0	8129	1087	38	1	1501	1	KCNQ4	1	41296926	Missense_Mutation	SNP	G	TCGA-S9-A7IY-01A-11D-A34A-08	5352139	41296926	207953695	2	35234											
FUBP1	8880	broad.mit.edu	37	1	78430035	78430036	+	Frame_Shift_Ins	INS	-	-	G			TCGA-S9-A7IY-01A-11D-A34A-08	TCGA-S9-A7IY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c6d8f4-b65d-45d1-be60-bc2582ca5ece	1630984f-6709-413b-841f-d9798f3bf99a	g.chr1:78430035_78430036insG	ENST00000370767.1	-	11	930_931	c.843_844insC	c.(841-846)cccattfs	p.I282fs	FUBP1_ENST00000370768.2_Frame_Shift_Ins_p.I282fs|FUBP1_ENST00000436586.2_Frame_Shift_Ins_p.I303fs			Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1	282	KH 3.				transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						AATCTTGGAATGGGGACCTTAT	0.342			"F, N"		oligodendroglioma								12	23	---	---	---	---						G	78430036	-	G	78430035	7	5	439	1	0	1	1	0	0	0	0	0	6127	1464	51	0	1130	0	FUBP1	1	78430035	Frame_Shift_Ins	INS	-	TCGA-S9-A7IY-01A-11D-A34A-08	37133109	78430035	170820586	3	35235											
OR2T35	403244	broad.mit.edu	37	1	248801975	248801976	+	Frame_Shift_Del	DEL	AT	AT	-			TCGA-S9-A7IY-01A-11D-A34A-08	TCGA-S9-A7IY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c6d8f4-b65d-45d1-be60-bc2582ca5ece	1630984f-6709-413b-841f-d9798f3bf99a	g.chr1:248801975_248801976delAT	ENST00000317450.3	-	1	583_584	c.584_585delAT	c.(583-585)tatfs	p.Y195fs		NM_001001827.1	NP_001001827.1	Q8NGX2	O2T35_HUMAN	olfactory receptor, family 2, subfamily T, member 35	195					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|skin(1)	6	all_cancers(71;2.04e-05)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.237)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TCAGGGTCTCATAGAGTGACGT	0.5													3	6	---	---	---	---						-	248801976	AT	-	248801975	7	5	439	1	0	1	0	1	0	0	0	0	11074	224	8	0	390	0	OR2T35	1	248801975	Frame_Shift_Del	DEL	AT	TCGA-S9-A7IY-01A-11D-A34A-08	170371940	248801975	448646	4	35236											
IFIH1	64135	broad.mit.edu	37	2	163124706	163124706	+	Missense_Mutation	SNP	G	G	T			TCGA-S9-A7IY-01A-11D-A34A-08	TCGA-S9-A7IY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c6d8f4-b65d-45d1-be60-bc2582ca5ece	1630984f-6709-413b-841f-d9798f3bf99a	g.chr2:163124706G>T	ENST00000263642.2	-	14	3093	c.2698C>A	c.(2698-2700)Cca>Aca	p.P900T		NM_022168.3	NP_071451.2	Q9BYX4	IFIH1_HUMAN	interferon induced with helicase C domain 1	900					detection of virus|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|regulation of apoptosis	cytosol|nucleus	ATP binding|DNA binding|double-stranded RNA binding|helicase activity|protein binding|ribonucleoprotein binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	39						ATTAGTGATGGGTTATTCTTG	0.363													21	39					2.39187e-15	2.95467e-15	1	1	0	T	163124706	G	T	163124706	3	4	439	1	0	0	0	0	1	0	0	0	7564	1232	43	5	391	5	IFIH1	2	163124706	Missense_Mutation	SNP	G	TCGA-S9-A7IY-01A-11D-A34A-08		163124706	80074667	5	35237											
DNAH7	56171	broad.mit.edu	37	2	196642630	196642630	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A7IY-01A-11D-A34A-08	TCGA-S9-A7IY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c6d8f4-b65d-45d1-be60-bc2582ca5ece	1630984f-6709-413b-841f-d9798f3bf99a	g.chr2:196642630C>T	ENST00000312428.6	-	59	11058	c.10958G>A	c.(10957-10959)cGc>cAc	p.R3653H	DNAH7_ENST00000409063.1_Missense_Mutation_p.R136H	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3653					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						GCGCAGCGTGCGCCGGTCCCA	0.473													23	31					0	0	1	0	0	T	196642630	C	T	196642630	3	4	439	1	0	0	0	0	1	0	0	0	4633	768	27	1	1144	1	DNAH7	2	196642630	Missense_Mutation	SNP	C	TCGA-S9-A7IY-01A-11D-A34A-08	33517924	196642630	46556743	6	35238											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-S9-A7IY-01A-11D-A34A-08	TCGA-S9-A7IY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c6d8f4-b65d-45d1-be60-bc2582ca5ece	1630984f-6709-413b-841f-d9798f3bf99a	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								32	54					0	0	1	0	0	T	209113112	C	T	209113112	3	4	439	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-S9-A7IY-01A-11D-A34A-08	12470482	209113112	34086261	7	35239											
GIGYF2	26058	broad.mit.edu	37	2	233712219	233712219	+	Nonsense_Mutation	SNP	C	C	T			TCGA-S9-A7IY-01A-11D-A34A-08	TCGA-S9-A7IY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c6d8f4-b65d-45d1-be60-bc2582ca5ece	1630984f-6709-413b-841f-d9798f3bf99a	g.chr2:233712219C>T	ENST00000373566.3	+	28	3885	c.3688C>T	c.(3688-3690)Cag>Tag	p.Q1230*	GIGYF2_ENST00000409451.3_Nonsense_Mutation_p.Q1229*|GIGYF2_ENST00000409480.1_Nonsense_Mutation_p.Q1230*|GIGYF2_ENST00000409547.1_Nonsense_Mutation_p.Q1208*|GIGYF2_ENST00000373563.4_Nonsense_Mutation_p.Q1208*|GIGYF2_ENST00000409196.3_Nonsense_Mutation_p.Q1202*			Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	1208	Gln-rich.				cell death		protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		tcagcagcagcagctgccaca	0.572													9	84					0	0	1	0	0	T	233712219	C	T	233712219	4	4	439	1	0	0	0	0	0	1	0	0	6420	711	25	2	3790	2	GIGYF2	2	233712219	Nonsense_Mutation	SNP	C	TCGA-S9-A7IY-01A-11D-A34A-08	24599107	233712219	9487154	8	35240											
ING5	84289	broad.mit.edu	37	2	242650843	242650843	+	Missense_Mutation	SNP	G	G	T			TCGA-S9-A7IY-01A-11D-A34A-08	TCGA-S9-A7IY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c6d8f4-b65d-45d1-be60-bc2582ca5ece	1630984f-6709-413b-841f-d9798f3bf99a	g.chr2:242650843G>T	ENST00000313552.6	+	4	354	c.328G>T	c.(328-330)Gat>Tat	p.D110Y	ING5_ENST00000406941.1_Missense_Mutation_p.D110Y|ING5_ENST00000482774.1_3'UTR	NM_032329.4	NP_115705.2	Q8WYH8	ING5_HUMAN	inhibitor of growth family, member 5	110					DNA replication|histone H3 acetylation|negative regulation of cell proliferation|negative regulation of growth|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex	protein binding|zinc ion binding			large_intestine(1)|lung(1)|skin(1)	3		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;2.16e-33)|all cancers(36;4.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.6e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0839)		CTTTGAAGCAGATCTGAAGGA	0.393													79	121					6.44939e-38	8.20832e-38	1	1	0	T	242650843	G	T	242650843	3	4	439	1	0	0	0	0	1	0	0	0	7783	942	33	4	342	4	ING5	2	242650843	Missense_Mutation	SNP	G	TCGA-S9-A7IY-01A-11D-A34A-08	8938624	242650843	548530	9	35241											
QARS	5859	broad.mit.edu	37	3	49141306	49141306	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A7IY-01A-11D-A34A-08	TCGA-S9-A7IY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c6d8f4-b65d-45d1-be60-bc2582ca5ece	1630984f-6709-413b-841f-d9798f3bf99a	g.chr3:49141306A>G	ENST00000306125.6	-	3	702	c.365T>C	c.(364-366)aTt>aCt	p.I122T	QARS_ENST00000414533.1_Missense_Mutation_p.I111T|QARS_ENST00000420147.2_Missense_Mutation_p.I140T			P47897	SYQ_HUMAN	glutaminyl-tRNA synthetase	122					glutaminyl-tRNA aminoacylation	cytosol|mitochondrial matrix	ATP binding|glutamine-tRNA ligase activity|protein binding			breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	L-Glutamine(DB00130)	AGCCTCCTCAATCTGCTCTGG	0.592													7	29					0	0	1	0	0	G	49141306	A	G	49141306	3	3	439	1	0	0	0	0	1	0	0	0	12923	101	4	3	2050	3	QARS	3	49141306	Missense_Mutation	SNP	A	TCGA-S9-A7IY-01A-11D-A34A-08		49141306	148881124	10	35242											
MFSD10	10227	broad.mit.edu	37	4	2933825	2933825	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7IY-01A-11D-A34A-08	TCGA-S9-A7IY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c6d8f4-b65d-45d1-be60-bc2582ca5ece	1630984f-6709-413b-841f-d9798f3bf99a	g.chr4:2933825G>A	ENST00000329687.4	-	6	1283	c.749C>T	c.(748-750)gCc>gTc	p.A250V	MFSD10_ENST00000507555.1_Missense_Mutation_p.A250V|MFSD10_ENST00000514800.1_Missense_Mutation_p.A250V|MFSD10_ENST00000508221.1_Missense_Mutation_p.A250V|MFSD10_ENST00000355443.4_Missense_Mutation_p.A250V	NM_001120.4	NP_001111.3	Q14728	MFS10_HUMAN	major facilitator superfamily domain containing 10	250					apoptosis	integral to membrane	tetracycline transporter activity			breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|skin(1)	7				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		GCGCAGCAGGGCCAGGGGGCT	0.672													6	12					0	0	1	0	0	A	2933825	G	A	2933825	3	1	439	1	0	0	0	0	1	0	0	0	9578	1203	42	2	646	2	MFSD10	4	2933825	Missense_Mutation	SNP	G	TCGA-S9-A7IY-01A-11D-A34A-08		2933825	188220451	11	35243											
NIPBL	25836	broad.mit.edu	37	5	37026330	37026330	+	Splice_Site	SNP	G	G	A			TCGA-S9-A7IY-01A-11D-A34A-08	TCGA-S9-A7IY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c6d8f4-b65d-45d1-be60-bc2582ca5ece	1630984f-6709-413b-841f-d9798f3bf99a	g.chr5:37026330G>A	ENST00000282516.8	+	31	6208		c.e31-1		NIPBL_ENST00000448238.2_Splice_Site	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)						brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			CTTCCTTCTAGAAATTAGTAA	0.313													13	24					0	0	1	0	0	A	37026330	G	A	37026330	5	1	439	1	0	0	0	0	0	0	1	0	10475	956	33	2	5827	2	NIPBL	5	37026330	Splice_Site	SNP	G	TCGA-S9-A7IY-01A-11D-A34A-08		37026330	143888930	12	35244											
PIK3R1	5295	broad.mit.edu	37	5	67591129	67591130	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-S9-A7IY-01A-11D-A34A-08	TCGA-S9-A7IY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c6d8f4-b65d-45d1-be60-bc2582ca5ece	1630984f-6709-413b-841f-d9798f3bf99a	g.chr5:67591129_67591130delAA	ENST00000521381.1	+	13	2338_2339	c.1722_1723delAA	c.(1720-1725)agaaagfs	p.K575fs	PIK3R1_ENST00000320694.8_Frame_Shift_Del_p.K275fs|PIK3R1_ENST00000336483.5_Frame_Shift_Del_p.K305fs|PIK3R1_ENST00000274335.5_Frame_Shift_Del_p.K575fs|PIK3R1_ENST00000396611.1_Frame_Shift_Del_p.K575fs|PIK3R1_ENST00000523872.1_Frame_Shift_Del_p.K212fs|PIK3R1_ENST00000521657.1_Frame_Shift_Del_p.K575fs	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	575					epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.R574_T576del(2)|p.R574fs*27(1)|p.L570_D578del(1)|p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	TCCAGCTGAGAAAGACGAGAGA	0.376			"Mis, F, O"		"gliobastoma, ovarian, colorectal"					TCGA GBM(4;<1E-08)			10	81	---	---	---	---						-	67591130	AA	-	67591129	7	5	439	1	0	1	0	1	0	0	0	0	11966	243	9	0	1898	0	PIK3R1	5	67591129	Frame_Shift_Del	DEL	AA	TCGA-S9-A7IY-01A-11D-A34A-08	30564799	67591129	113324131	13	35245											
SLC35A4	113829	broad.mit.edu	37	5	139947214	139947214	+	Missense_Mutation	SNP	G	G	T			TCGA-S9-A7IY-01A-11D-A34A-08	TCGA-S9-A7IY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c6d8f4-b65d-45d1-be60-bc2582ca5ece	1630984f-6709-413b-841f-d9798f3bf99a	g.chr5:139947214G>T	ENST00000514199.1	+	2	2146	c.460G>T	c.(460-462)Gcc>Tcc	p.A154S	APBB3_ENST00000507279.1_Intron|SLC35A4_ENST00000323146.3_Missense_Mutation_p.A154S			Q96G79	S35A4_HUMAN	solute carrier family 35, member A4	154	Leu-rich.					Golgi membrane|integral to membrane	sugar:hydrogen symporter activity			endometrium(4)|kidney(2)|large_intestine(3)|lung(4)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCTGCGGGAGCCTGCTATGC	0.637													5	46					0.000602214	0.000616903	1	1	0	T	139947214	G	T	139947214	3	4	439	1	0	0	0	0	1	0	0	0	14628	971	34	4	462	4	SLC35A4	5	139947214	Missense_Mutation	SNP	G	TCGA-S9-A7IY-01A-11D-A34A-08	72356085	139947214	40968046	14	35246											
ENPP1	5167	broad.mit.edu	37	6	132194118	132194118	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7IY-01A-11D-A34A-08	TCGA-S9-A7IY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c6d8f4-b65d-45d1-be60-bc2582ca5ece	1630984f-6709-413b-841f-d9798f3bf99a	g.chr6:132194118G>A	ENST00000360971.2	+	15	1513	c.1493G>A	c.(1492-1494)cGt>cAt	p.R498H		NM_006208.2	NP_006199.2	P22413	ENPP1_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 1	498	Phosphodiesterase.				3'-phosphoadenosine 5'-phosphosulfate metabolic process|biomineral tissue development|cellular phosphate ion homeostasis|cellular response to insulin stimulus|generation of precursor metabolites and energy|immune response|inorganic diphosphate transport|negative regulation of cell growth|negative regulation of fat cell differentiation|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of protein autophosphorylation|nucleoside triphosphate catabolic process|phosphate metabolic process|sequestering of triglyceride|water-soluble vitamin metabolic process	basolateral plasma membrane|cell surface|extracellular space|integral to membrane	ATP binding|insulin receptor binding|metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|protein homodimerization activity|scavenger receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(22)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	46	Breast(56;0.0505)			GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	Amifostine(DB01143)|Ribavirin(DB00811)	TTACCTAAGCGTTTGCACTTT	0.408													71	101					0	0	1	0	0	A	132194118	G	A	132194118	3	1	439	1	0	0	0	0	1	0	0	0	5157	1145	40	1	1551	1	ENPP1	6	132194118	Missense_Mutation	SNP	G	TCGA-S9-A7IY-01A-11D-A34A-08		132194118	38920949	15	35247											
SYNE1	23345	broad.mit.edu	37	6	152690656	152690656	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A7IY-01A-11D-A34A-08	TCGA-S9-A7IY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c6d8f4-b65d-45d1-be60-bc2582ca5ece	1630984f-6709-413b-841f-d9798f3bf99a	g.chr6:152690656T>C	ENST00000367255.5	-	60	10202	c.9601A>G	c.(9601-9603)Aat>Gat	p.N3201D	SYNE1_ENST00000341594.5_Missense_Mutation_p.N3240D|SYNE1_ENST00000265368.4_Missense_Mutation_p.N3201D|SYNE1_ENST00000423061.1_Missense_Mutation_p.N3208D|SYNE1_ENST00000448038.1_Missense_Mutation_p.N3208D	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	3201					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TAGAGGCGATTGCTGCTTTCA	0.512										HNSCC(10;0.0054)			8	58					0	0	1	0	0	C	152690656	T	C	152690656	3	2	439	1	0	0	0	0	1	0	0	0	15502	1812	63	3	17213	3	SYNE1	6	152690656	Missense_Mutation	SNP	T	TCGA-S9-A7IY-01A-11D-A34A-08	20496538	152690656	18424411	16	35248											
PDIA4	9601	broad.mit.edu	37	7	148709068	148709068	+	Silent	SNP	G	G	A			TCGA-S9-A7IY-01A-11D-A34A-08	TCGA-S9-A7IY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c6d8f4-b65d-45d1-be60-bc2582ca5ece	1630984f-6709-413b-841f-d9798f3bf99a	g.chr7:148709068G>A	ENST00000286091.4	-	6	1081	c.849C>T	c.(847-849)tcC>tcT	p.S283S		NM_004911.4	NP_004902.1	P13667	PDIA4_HUMAN	protein disulfide isomerase family A, member 4	283	Thioredoxin 2.				cell redox homeostasis|glycerol ether metabolic process|protein secretion	endoplasmic reticulum lumen|melanosome	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			large_intestine(6)|lung(15)|ovary(2)|prostate(1)	24	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00385)			AGGGAGGCCCGGACTGCTCGA	0.582													4	60					0	0	1	0	0	A	148709068	G	A	148709068	2	1	439	1	0	0	0	0	0	0	0	1	11717	1103	39	1		1	PDIA4	7	148709068	Silent	SNP	G	TCGA-S9-A7IY-01A-11D-A34A-08		148709068	10429595	17	35249											
DNMBP	23268	broad.mit.edu	37	10	101715654	101715654	+	Missense_Mutation	SNP	C	C	A			TCGA-S9-A7IY-01A-11D-A34A-08	TCGA-S9-A7IY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c6d8f4-b65d-45d1-be60-bc2582ca5ece	1630984f-6709-413b-841f-d9798f3bf99a	g.chr10:101715654C>A	ENST00000342239.3	-	4	1668	c.1577G>T	c.(1576-1578)gGt>gTt	p.G526V	DNMBP_ENST00000324109.4_Missense_Mutation_p.G526V|DNMBP-AS1_ENST00000434409.1_RNA			Q6XZF7	DNMBP_HUMAN	dynamin binding protein	526					intracellular signal transduction|regulation of Rho protein signal transduction	cell junction|cytoskeleton|Golgi stack|synapse	protein binding|Rho guanyl-nucleotide exchange factor activity			central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		GGCTTGCGGACCAGGCTTCAT	0.498													20	104					1.00905e-13	1.21086e-13	1	1	0	A	101715654	C	A	101715654	3	1	439	1	0	0	0	0	1	0	0	0	4701	507	18	5	3212	5	DNMBP	10	101715654	Missense_Mutation	SNP	C	TCGA-S9-A7IY-01A-11D-A34A-08		101715654	33819093	18	35250											
FANK1	92565	broad.mit.edu	37	10	127693465	127693465	+	Silent	SNP	G	G	A			TCGA-S9-A7IY-01A-11D-A34A-08	TCGA-S9-A7IY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c6d8f4-b65d-45d1-be60-bc2582ca5ece	1630984f-6709-413b-841f-d9798f3bf99a	g.chr10:127693465G>A	ENST00000368695.1	+	7	656	c.534G>A	c.(532-534)gcG>gcA	p.A178A	FANK1_ENST00000368693.1_Silent_p.A184A|FANK1_ENST00000477963.1_3'UTR	NM_145235.3	NP_660278.3	Q8TC84	FANK1_HUMAN	fibronectin type III and ankyrin repeat domains 1	184						cytoplasm|nucleus				central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(10)|ovary(1)|urinary_tract(1)	21		all_lung(145;0.00752)|Lung NSC(174;0.0115)|Colorectal(57;0.0847)|all_neural(114;0.0936)				TAATGCTGGCGTGCTATGCGG	0.507													6	81					0	0	1	0	0	A	127693465	G	A	127693465	2	1	439	1	0	0	0	0	0	0	0	1	5705	1132	40	1		1	FANK1	10	127693465	Silent	SNP	G	TCGA-S9-A7IY-01A-11D-A34A-08	25977811	127693465	7841282	19	35251											
CCND1	595	broad.mit.edu	37	11	69465934	69465934	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A7IY-01A-11D-A34A-08	TCGA-S9-A7IY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c6d8f4-b65d-45d1-be60-bc2582ca5ece	1630984f-6709-413b-841f-d9798f3bf99a	g.chr11:69465934A>G	ENST00000227507.2	+	5	999	c.772A>G	c.(772-774)Agc>Ggc	p.S258G		NM_053056.2	NP_444284.1	P24385	CCND1_HUMAN	cyclin D1	258					cell division|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|mitotic cell cycle G1/S transition DNA damage checkpoint|positive regulation of cyclin-dependent protein kinase activity|positive regulation of protein phosphorylation|response to drug|response to UV-A|S phase of mitotic cell cycle	cyclin-dependent protein kinase holoenzyme complex|cytosol|membrane|nucleoplasm	protein kinase binding			NS(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|ovary(1)|urinary_tract(1)	23	all_cancers(3;2.01e-114)|all_epithelial(3;3.59e-122)|Breast(3;5.4e-34)|all_lung(4;1.99e-21)|Lung NSC(4;4.65e-21)|Hepatocellular(3;8.22e-16)|Melanoma(5;1.89e-05)|Ovarian(3;0.0348)		Epithelial(3;7.2e-57)|all cancers(3;7.75e-51)|BRCA - Breast invasive adenocarcinoma(2;4.9e-48)|Lung(3;1.13e-16)|LUSC - Lung squamous cell carcinoma(11;3.74e-15)|STAD - Stomach adenocarcinoma(18;0.0278)|LUAD - Lung adenocarcinoma(13;0.0537)		Arsenic trioxide(DB01169)	GCTGGAGTCAAGCCTGCGCCA	0.667			T	"IGH@, FSTL3"	"CLL, B-ALL, breast"					Multiple Myeloma(6;0.086)			14	16					0	0	1	0	0	G	69465934	A	G	69465934	3	3	439	1	0	0	0	0	1	0	0	0	2938	72	3	3	790	3	CCND1	11	69465934	Missense_Mutation	SNP	A	TCGA-S9-A7IY-01A-11D-A34A-08		69465934	65540582	20	35252											
PRMT8	56341	broad.mit.edu	37	12	3701451	3701451	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A7IY-01A-11D-A34A-08	TCGA-S9-A7IY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c6d8f4-b65d-45d1-be60-bc2582ca5ece	1630984f-6709-413b-841f-d9798f3bf99a	g.chr12:3701451A>G	ENST00000382622.3	+	9	1424	c.1034A>G	c.(1033-1035)tAc>tGc	p.Y345C	PRMT8_ENST00000261252.4_3'UTR|PRMT8_ENST00000452611.2_Missense_Mutation_p.Y336C	NM_019854.4	NP_062828.3	Q9NR22	ANM8_HUMAN	protein arginine methyltransferase 8	345					regulation of protein binding	cytoplasm|plasma membrane	histone-arginine N-methyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264)			TTGGAAGATTACCTCACTGTC	0.532													39	72					0	0	1	0	0	G	3701451	A	G	3701451	3	3	439	1	0	0	0	0	1	0	0	0	12594	391	14	3	1068	3	PRMT8	12	3701451	Missense_Mutation	SNP	A	TCGA-S9-A7IY-01A-11D-A34A-08		3701451	130150444	21	35253											
MYO1H	283446	broad.mit.edu	37	12	109826586	109826586	+	Silent	SNP	G	G	A			TCGA-S9-A7IY-01A-11D-A34A-08	TCGA-S9-A7IY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c6d8f4-b65d-45d1-be60-bc2582ca5ece	1630984f-6709-413b-841f-d9798f3bf99a	g.chr12:109826586G>A	ENST00000310903.5	+	2	169	c.63G>A	c.(61-63)gcG>gcA	p.A21A	MYO1H_ENST00000431443.2_Silent_p.A21A			B4DNW6	B4DNW6_HUMAN	myosin IH	0						myosin complex	motor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(17)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	47						TATTGGACGCGTACACCAGCG	0.532													4	208					0	0	1	0	0	A	109826586	G	A	109826586	2	1	439	1	0	0	0	0	0	0	0	1	10123	1132	40	1		1	MYO1H	12	109826586	Silent	SNP	G	TCGA-S9-A7IY-01A-11D-A34A-08	106125135	109826586	24025309	22	35254											
ATP4B	496	broad.mit.edu	37	13	114312443	114312443	+	Missense_Mutation	SNP	T	T	A			TCGA-S9-A7IY-01A-11D-A34A-08	TCGA-S9-A7IY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c6d8f4-b65d-45d1-be60-bc2582ca5ece	1630984f-6709-413b-841f-d9798f3bf99a	g.chr13:114312443T>A	ENST00000335288.4	-	1	58	c.17A>T	c.(16-18)gAg>gTg	p.E6V		NM_000705.3	NP_000696.1	P51164	ATP4B_HUMAN	ATPase, H+/K+ exchanging, beta polypeptide	6					ATP biosynthetic process	integral to membrane|plasma membrane	hydrogen:potassium-exchanging ATPase activity|sodium:potassium-exchanging ATPase activity			breast(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.00696)|all_epithelial(44;0.00347)|all_lung(25;0.0221)|Breast(118;0.0411)|Lung NSC(25;0.0839)	all cancers(43;0.171)		Rabeprazole(DB01129)	CGTCTTCTTCTCCTGCAGAGC	0.642													5	29					0	0	1	0	0	A	114312443	T	A	114312443	3	1	439	1	0	0	0	0	1	0	0	0	1145	1551	54	5	886	5	ATP4B	13	114312443	Missense_Mutation	SNP	T	TCGA-S9-A7IY-01A-11D-A34A-08		114312443	857435	23	35255											
CNOT1	23019	broad.mit.edu	37	16	58589321	58589322	+	Frame_Shift_Ins	INS	-	-	T			TCGA-S9-A7IY-01A-11D-A34A-08	TCGA-S9-A7IY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c6d8f4-b65d-45d1-be60-bc2582ca5ece	1630984f-6709-413b-841f-d9798f3bf99a	g.chr16:58589321_58589322insT	ENST00000317147.5	-	21	3056_3057	c.2724_2725insA	c.(2722-2727)aaagagfs	p.E909fs	CNOT1_ENST00000569732.1_5'UTR|CNOT1_ENST00000569240.1_Frame_Shift_Ins_p.E904fs|CNOT1_ENST00000441024.2_Frame_Shift_Ins_p.E909fs	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	909					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		ATATGTAACTCTTTATCAGGAT	0.376													36	130	---	---	---	---						T	58589322	-	T	58589321	7	5	439	1	0	1	1	0	0	0	0	0	3640	922	32	0	4743	0	CNOT1	16	58589321	Frame_Shift_Ins	INS	-	TCGA-S9-A7IY-01A-11D-A34A-08		58589321	31765432	24	35256											
ADORA2B	136	broad.mit.edu	37	17	15878191	15878191	+	Silent	SNP	C	C	G			TCGA-S9-A7IY-01A-11D-A34A-08	TCGA-S9-A7IY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c6d8f4-b65d-45d1-be60-bc2582ca5ece	1630984f-6709-413b-841f-d9798f3bf99a	g.chr17:15878191C>G	ENST00000304222.2	+	2	866	c.534C>G	c.(532-534)ccC>ccG	p.P178P		NM_000676.2	NP_000667.1	P29275	AA2BR_HUMAN	adenosine A2b receptor	178	Agonist binding (By similarity).				activation of MAPK activity|cellular defense response|excretion|JNK cascade	integral to plasma membrane				breast(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)	9				UCEC - Uterine corpus endometrioid carcinoma (92;0.0855)	Defibrotide(DB04932)|Enprofylline(DB00824)|Pegademase bovine(DB00061)|Theophylline(DB00277)	ATGTGGTCCCCATGAGCTACA	0.478													21	30					0	0	1	0	0	G	15878191	C	G	15878191	2	3	439	1	0	0	0	0	0	0	0	1	327	581	21	5		5	ADORA2B	17	15878191	Silent	SNP	C	TCGA-S9-A7IY-01A-11D-A34A-08		15878191	65317019	25	35257											
TUBD1	51174	broad.mit.edu	37	17	57968233	57968233	+	Missense_Mutation	SNP	G	G	T			TCGA-S9-A7IY-01A-11D-A34A-08	TCGA-S9-A7IY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c6d8f4-b65d-45d1-be60-bc2582ca5ece	1630984f-6709-413b-841f-d9798f3bf99a	g.chr17:57968233G>T	ENST00000325752.3	-	2	408	c.131C>A	c.(130-132)gCa>gAa	p.A44E	TUBD1_ENST00000340993.6_Missense_Mutation_p.A44E|TUBD1_ENST00000394239.3_Missense_Mutation_p.A44E|TUBD1_ENST00000346141.6_Missense_Mutation_p.A44E|TUBD1_ENST00000591611.1_5'UTR|TUBD1_ENST00000592426.1_Missense_Mutation_p.A44E|TUBD1_ENST00000376094.4_Missense_Mutation_p.A44E|TUBD1_ENST00000539018.1_Intron	NM_016261.3	NP_057345.2	Q9UJT1	TBD_HUMAN	tubulin, delta 1	44					cell differentiation|microtubule-based movement|multicellular organismal development|protein polymerization|spermatogenesis	centriole|microtubule|nucleus	GTP binding|GTPase activity|structural molecule activity			NS(2)|breast(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(2)	21	all_cancers(5;3.18e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;9.34e-13)|all cancers(12;1.91e-11)			TTTGCAAGATGCTTGATATGC	0.458													4	125					0.00116845	0.00116845	1	1	0	T	57968233	G	T	57968233	3	4	439	1	0	0	0	0	1	0	0	0	16824	1319	46	5	1262	5	TUBD1	17	57968233	Missense_Mutation	SNP	G	TCGA-S9-A7IY-01A-11D-A34A-08	42090042	57968233	23226977	26	35258											
EPB41L3	23136	broad.mit.edu	37	18	5410585	5410585	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A7IY-01A-11D-A34A-08	TCGA-S9-A7IY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c6d8f4-b65d-45d1-be60-bc2582ca5ece	1630984f-6709-413b-841f-d9798f3bf99a	g.chr18:5410585C>T	ENST00000341928.2	-	14	2441	c.2101G>A	c.(2101-2103)Ggg>Agg	p.G701R	EPB41L3_ENST00000400111.3_Missense_Mutation_p.G532R|EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000342933.3_Missense_Mutation_p.G701R|EPB41L3_ENST00000540638.2_Missense_Mutation_p.G532R|EPB41L3_ENST00000544123.1_Missense_Mutation_p.G532R|EPB41L3_ENST00000542146.1_5'UTR|EPB41L3_ENST00000427684.2_5'UTR	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	701	Spectrin--actin-binding (Potential).				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						GTGGTCTCCCCGTCGGCTGCG	0.537													8	26					0	0	1	0	0	T	5410585	C	T	5410585	3	4	439	1	0	0	0	0	1	0	0	0	5182	652	23	1	1198	1	EPB41L3	18	5410585	Missense_Mutation	SNP	C	TCGA-S9-A7IY-01A-11D-A34A-08		5410585	72666663	27	35259											
CDC34	997	broad.mit.edu	37	19	535886	535886	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7IY-01A-11D-A34A-08	TCGA-S9-A7IY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c6d8f4-b65d-45d1-be60-bc2582ca5ece	1630984f-6709-413b-841f-d9798f3bf99a	g.chr19:535886G>A	ENST00000215574.4	+	2	445	c.227G>A	c.(226-228)cGg>cAg	p.R76Q		NM_004359.1	NP_004350.1	P49427	UB2R1_HUMAN	cell division cycle 34	76					DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|negative regulation of cAMP-mediated signaling|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination	cytoplasm|nucleus	ATP binding|protein binding|ubiquitin-protein ligase activity			large_intestine(1)|lung(1)	2		all_cancers(10;1.94e-35)|all_epithelial(18;5.94e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)		CCAGCCTTTCGGTTCCTGACC	0.647													35	324					0	0	1	0	0	A	535886	G	A	535886	3	1	439	1	0	0	0	0	1	0	0	0	3089	1116	39	1	233	1	CDC34	19	535886	Missense_Mutation	SNP	G	TCGA-S9-A7IY-01A-11D-A34A-08		535886	58593097	28	35260											
CD97	976	broad.mit.edu	37	19	14499539	14499539	+	Silent	SNP	C	C	T			TCGA-S9-A7IY-01A-11D-A34A-08	TCGA-S9-A7IY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c6d8f4-b65d-45d1-be60-bc2582ca5ece	1630984f-6709-413b-841f-d9798f3bf99a	g.chr19:14499539C>T	ENST00000242786.5	+	3	179	c.99C>T	c.(97-99)aaC>aaT	p.N33N	CD97_ENST00000587728.1_3'UTR|CD97_ENST00000357355.3_Silent_p.N33N|CD97_ENST00000358600.3_Silent_p.N33N	NM_078481.3	NP_510966.1	P48960	CD97_HUMAN	CD97 molecule	33	EGF-like 1.				cell adhesion|cell-cell signaling|cellular component movement|immune response|inflammatory response|neuropeptide signaling pathway	extracellular space|integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						GCCCTCAGAACTCCTCGTGTG	0.587													5	171					0	0	1	0	0	T	14499539	C	T	14499539	2	4	439	1	0	0	0	0	0	0	0	1	3071	564	20	2		2	CD97	19	14499539	Silent	SNP	C	TCGA-S9-A7IY-01A-11D-A34A-08	13963653	14499539	44629444	29	35261											
CIC	23152	broad.mit.edu	37	19	42791853	42791853	+	Nonsense_Mutation	SNP	C	C	T			TCGA-S9-A7IY-01A-11D-A34A-08	TCGA-S9-A7IY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c6d8f4-b65d-45d1-be60-bc2582ca5ece	1630984f-6709-413b-841f-d9798f3bf99a	g.chr19:42791853C>T	ENST00000572681.2	+	6	3534	c.3466C>T	c.(3466-3468)Cag>Tag	p.Q1156*	CIC_ENST00000575354.2_Nonsense_Mutation_p.Q247*|CIC_ENST00000160740.3_Nonsense_Mutation_p.Q247*			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	247	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CAAGGAGAAGCAGAAGTACCA	0.632			"Mis, F, S"		oligodendroglioma								4	23					0	0	1	0	0	T	42791853	C	T	42791853	4	4	439	1	0	0	0	0	0	1	0	0	3446	711	25	2	757	2	CIC	19	42791853	Nonsense_Mutation	SNP	C	TCGA-S9-A7IY-01A-11D-A34A-08	28292314	42791853	16337130	30	35262											
CIC	23152	broad.mit.edu	37	19	42793116	42793116	+	Frame_Shift_Del	DEL	T	T	-			TCGA-S9-A7IY-01A-11D-A34A-08	TCGA-S9-A7IY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c6d8f4-b65d-45d1-be60-bc2582ca5ece	1630984f-6709-413b-841f-d9798f3bf99a	g.chr19:42793116delT	ENST00000572681.2	+	8	3803	c.3735delT	c.(3733-3735)tgtfs	p.C1245fs	CIC_ENST00000160740.3_Frame_Shift_Del_p.C336fs|CIC_ENST00000575354.2_Frame_Shift_Del_p.C336fs			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	336	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				GCAGCTCCTGTGGGGCAGAAC	0.622			"Mis, F, S"		oligodendroglioma								9	58	---	---	---	---						-	42793116	T	-	42793116	7	5	439	1	0	1	0	1	0	0	0	0	3446	1702	59	0	1034	0	CIC	19	42793116	Frame_Shift_Del	DEL	T	TCGA-S9-A7IY-01A-11D-A34A-08	1263	42793116	16335867	31	35263											
NDRG3	57446	broad.mit.edu	37	20	35293691	35293691	+	Nonsense_Mutation	SNP	C	C	A			TCGA-S9-A7IY-01A-11D-A34A-08	TCGA-S9-A7IY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c6d8f4-b65d-45d1-be60-bc2582ca5ece	1630984f-6709-413b-841f-d9798f3bf99a	g.chr20:35293691C>A	ENST00000373803.2	-	11	762	c.706G>T	c.(706-708)Gag>Tag	p.E236*	NDRG3_ENST00000540765.1_Nonsense_Mutation_p.E132*|NDRG3_ENST00000349004.1_Nonsense_Mutation_p.E236*|NDRG3_ENST00000359675.2_Nonsense_Mutation_p.E224*|NDRG3_ENST00000373773.3_Nonsense_Mutation_p.E141*			Q9UGV2	NDRG3_HUMAN	NDRG family member 3	236					cell differentiation|negative regulation of cell growth|spermatogenesis	cytoplasm				endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12		Myeloproliferative disorder(115;0.00878)				CTTTCGATCTCCAGGTCTCTG	0.368													5	143					0.000602214	0.000616903	1	1	0	A	35293691	C	A	35293691	4	1	439	1	0	0	0	0	0	1	0	0	10300	864	30	5	445	5	NDRG3	20	35293691	Nonsense_Mutation	SNP	C	TCGA-S9-A7IY-01A-11D-A34A-08		35293691	27731829	32	35264											
CBY1	25776	broad.mit.edu	37	22	39064094	39064094	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A7IY-01A-11D-A34A-08	TCGA-S9-A7IY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c6d8f4-b65d-45d1-be60-bc2582ca5ece	1630984f-6709-413b-841f-d9798f3bf99a	g.chr22:39064094A>G	ENST00000216029.3	+	2	169	c.35A>G	c.(34-36)aAg>aGg	p.K12R	RP3-508I15.10_ENST00000423346.1_RNA|RP3-508I15.9_ENST00000431924.2_RNA|RP3-508I15.9_ENST00000422408.2_RNA	NM_015373.3	NP_056188.1	Q9Y3M2	CBY1_HUMAN	chibby homolog 1 (Drosophila)	12					cardiac muscle cell differentiation|fat cell differentiation|negative regulation of transcription, DNA-dependent|protein localization	nuclear speck|trans-Golgi network	beta-catenin binding|identical protein binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|ovary(1)	4	Melanoma(58;0.04)					AGTCCGAAGAAGACACCTCCT	0.537													26	38					0	0	1	0	0	G	39064094	A	G	39064094	3	3	439	1	0	0	0	0	1	0	0	0	2743	72	3	3	37	3	CBY1	22	39064094	Missense_Mutation	SNP	A	TCGA-S9-A7IY-01A-11D-A34A-08		39064094	12240472	33	35265											
CACNA1I	8911	broad.mit.edu	37	22	39994226	39994226	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7IY-01A-11D-A34A-08	TCGA-S9-A7IY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c6d8f4-b65d-45d1-be60-bc2582ca5ece	1630984f-6709-413b-841f-d9798f3bf99a	g.chr22:39994226G>A	ENST00000336649.4	+	4	307	c.307G>A	c.(307-309)Gac>Aac	p.D103N	CACNA1I_ENST00000402142.3_Missense_Mutation_p.D103N|CACNA1I_ENST00000401624.1_Missense_Mutation_p.D103N|CACNA1I_ENST00000407673.1_Missense_Mutation_p.D103N|CACNA1I_ENST00000400164.3_Missense_Mutation_p.D103N|CACNA1I_ENST00000404898.1_Missense_Mutation_p.D103N			Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	103					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	CCAGCCGTGCGACGACATGGA	0.632													3	16					0	0	1	0	0	A	39994226	G	A	39994226	3	1	439	1	0	0	0	0	1	0	0	0	2564	1058	37	1	313	1	CACNA1I	22	39994226	Missense_Mutation	SNP	G	TCGA-S9-A7IY-01A-11D-A34A-08	930132	39994226	11310340	34	35266											
LPHN2	23266	broad.mit.edu	37	1	82456565	82456565	+	Silent	SNP	T	T	C			TCGA-S9-A7IZ-01A-11D-A34A-08	TCGA-S9-A7IZ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233b3927-8f2f-41ab-b0d4-fe407294ee1e	cf9a712f-a229-476b-9fb7-72cf76d11a37	g.chr1:82456565T>C	ENST00000370728.1	+	25	4761	c.4116T>C	c.(4114-4116)taT>taC	p.Y1372Y	LPHN2_ENST00000370715.1_3'UTR|LPHN2_ENST00000359929.3_Silent_p.Y1316Y|LPHN2_ENST00000370721.1_Silent_p.Y1297Y|LPHN2_ENST00000370713.1_3'UTR|LPHN2_ENST00000370717.2_Silent_p.Y1387Y|LPHN2_ENST00000394879.1_Silent_p.Y1374Y|LPHN2_ENST00000319517.6_Silent_p.Y1316Y|LPHN2_ENST00000469377.2_3'UTR|LPHN2_ENST00000271029.4_Silent_p.Y1344Y|LPHN2_ENST00000370725.1_Silent_p.Y1387Y|LPHN2_ENST00000370723.1_Silent_p.Y1374Y|LPHN2_ENST00000335786.5_Silent_p.Y1329Y|LPHN2_ENST00000370730.1_Silent_p.Y1329Y|LPHN2_ENST00000370727.1_Silent_p.Y1344Y			O95490	LPHN2_HUMAN	latrophilin 2	1372					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		ACTCTCTTTATACAAGCATGC	0.512													22	43					0	0	1	0	0	C	82456565	T	C	82456565	2	2	440	1	0	0	0	0	0	0	0	1	8961	1413	49	3		3	LPHN2	1	82456565	Silent	SNP	T	TCGA-S9-A7IZ-01A-11D-A34A-08		82456565	166794056	1	35267											
EVI5	7813	broad.mit.edu	37	1	92979278	92979278	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A7IZ-01A-11D-A34A-08	TCGA-S9-A7IZ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233b3927-8f2f-41ab-b0d4-fe407294ee1e	cf9a712f-a229-476b-9fb7-72cf76d11a37	g.chr1:92979278T>C	ENST00000370331.1	-	18	2377	c.2368A>G	c.(2368-2370)Agc>Ggc	p.S790G	EVI5_ENST00000540033.1_Missense_Mutation_p.S790G|EVI5_ENST00000543509.1_Missense_Mutation_p.S801G	NM_005665.4	NP_005656.4	O60447	EVI5_HUMAN	ecotropic viral integration site 5	790	Interaction with AURKB and INCENP.|Targeting to the centrosomes.				cell cycle|cell division|cell proliferation|multicellular organismal development	microtubule organizing center|nucleus|spindle	protein binding|Rab GTPase activator activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|skin(1)	38		all_lung(203;0.00146)|Lung NSC(277;0.00565)|all_neural(321;0.185)|Melanoma(281;0.193)|Glioma(108;0.203)		Epithelial(280;8.09e-25)|OV - Ovarian serous cystadenocarcinoma(397;1.27e-22)|all cancers(265;1.74e-21)|GBM - Glioblastoma multiforme(16;0.00233)|BRCA - Breast invasive adenocarcinoma(282;0.211)		ACTTGGTTGCTCTCTCTGGTC	0.488													57	112					0	0	1	0	0	C	92979278	T	C	92979278	3	2	440	1	0	0	0	0	1	0	0	0	5317	1551	54	3	68	3	EVI5	1	92979278	Missense_Mutation	SNP	T	TCGA-S9-A7IZ-01A-11D-A34A-08	10522713	92979278	156271343	2	35268											
FLAD1	80308	broad.mit.edu	37	1	154965110	154965110	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A7IZ-01A-11D-A34A-08	TCGA-S9-A7IZ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233b3927-8f2f-41ab-b0d4-fe407294ee1e	cf9a712f-a229-476b-9fb7-72cf76d11a37	g.chr1:154965110T>C	ENST00000405236.2	+	3	989	c.989T>C	c.(988-990)aTg>aCg	p.M330T	FLAD1_ENST00000295530.2_Missense_Mutation_p.M162T|FLAD1_ENST00000292180.3_Intron|FLAD1_ENST00000368432.1_Intron|FLAD1_ENST00000368428.1_Intron|FLAD1_ENST00000315144.10_Intron			Q8NFF5	FAD1_HUMAN	flavin adenine dinucleotide synthetase 1	0					FAD biosynthetic process|Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol	ATP binding|FMN adenylyltransferase activity			endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|ovary(3)|skin(3)	22	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GAGCCATGGATGGGCCCCTTC	0.507													22	30					0	0	1	0	0	C	154965110	T	C	154965110	3	2	440	1	0	0	0	0	1	0	0	0	5953	1479	51	3		3	FLAD1	1	154965110	Missense_Mutation	SNP	T	TCGA-S9-A7IZ-01A-11D-A34A-08	61985832	154965110	94285511	3	35269											
THBS3	7059	broad.mit.edu	37	1	155171215	155171215	+	Missense_Mutation	SNP	G	G	T			TCGA-S9-A7IZ-01A-11D-A34A-08	TCGA-S9-A7IZ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233b3927-8f2f-41ab-b0d4-fe407294ee1e	cf9a712f-a229-476b-9fb7-72cf76d11a37	g.chr1:155171215G>T	ENST00000368378.3	-	11	1342	c.1322C>A	c.(1321-1323)tCc>tAc	p.S441Y	THBS3_ENST00000457183.2_Missense_Mutation_p.S321Y|RP11-263K19.4_ENST00000453136.1_RNA|THBS3_ENST00000541990.1_5'UTR|RP11-263K19.4_ENST00000430312.1_RNA|THBS3_ENST00000541576.1_5'UTR|THBS3_ENST00000486260.1_5'UTR|RP11-263K19.4_ENST00000422665.1_RNA	NM_001252607.1|NM_007112.4	NP_001239536.1|NP_009043.1	P49746	TSP3_HUMAN	thrombospondin 3	441	EGF-like 4.				cell-matrix adhesion	extracellular region|perinuclear region of cytoplasm	calcium ion binding|heparin binding|structural molecule activity			breast(6)|endometrium(4)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(3)	48	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			CACCTGGCAGGACACTGCACC	0.612													6	91					0.217242	0.217242	1	1	0	T	155171215	G	T	155171215	3	4	440	1	0	0	0	0	1	0	0	0	15915	1174	41	5	1600	5	THBS3	1	155171215	Missense_Mutation	SNP	G	TCGA-S9-A7IZ-01A-11D-A34A-08	206105	155171215	94079406	4	35270											
BCAN	63827	broad.mit.edu	37	1	156626790	156626790	+	Missense_Mutation	SNP	C	C	A			TCGA-S9-A7IZ-01A-11D-A34A-08	TCGA-S9-A7IZ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233b3927-8f2f-41ab-b0d4-fe407294ee1e	cf9a712f-a229-476b-9fb7-72cf76d11a37	g.chr1:156626790C>A	ENST00000329117.5	+	10	2447	c.2111C>A	c.(2110-2112)tCc>tAc	p.S704Y	RP11-284F21.7_ENST00000448869.1_RNA	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN	brevican		C-type lectin.				cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding			cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					AAGCACTTTTCCACACGAAGG	0.627													18	30					5.3912e-06	6.23688e-06	1	1	0	A	156626790	C	A	156626790	3	1	440	1	0	0	0	0	1	0	0	0	1343	855	30	5	2219	5	BCAN	1	156626790	Missense_Mutation	SNP	C	TCGA-S9-A7IZ-01A-11D-A34A-08	1455575	156626790	92623831	5	35271											
IARS2	55699	broad.mit.edu	37	1	220284136	220284136	+	Missense_Mutation	SNP	A	A	T			TCGA-S9-A7IZ-01A-11D-A34A-08	TCGA-S9-A7IZ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233b3927-8f2f-41ab-b0d4-fe407294ee1e	cf9a712f-a229-476b-9fb7-72cf76d11a37	g.chr1:220284136A>T	ENST00000366922.1	+	11	1451	c.1120A>T	c.(1120-1122)Atg>Ttg	p.M374L	IARS2_ENST00000302637.5_Missense_Mutation_p.M446L			Q9NSE4	SYIM_HUMAN	isoleucyl-tRNA synthetase 2, mitochondrial	446					isoleucyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|isoleucine-tRNA ligase activity			NS(1)|breast(1)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(17)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51				GBM - Glioblastoma multiforme(131;0.0554)	L-Isoleucine(DB00167)	AGTTATAAAGATGCTTCAGAC	0.338													14	73					0	0	1	0	0	T	220284136	A	T	220284136	3	4	440	1	0	0	0	0	1	0	0	0	7518	333	12	4	1378	4	IARS2	1	220284136	Missense_Mutation	SNP	A	TCGA-S9-A7IZ-01A-11D-A34A-08	63657346	220284136	28966485	6	35272											
PSME4	23198	broad.mit.edu	37	2	54128611	54128611	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7IZ-01A-11D-A34A-08	TCGA-S9-A7IZ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233b3927-8f2f-41ab-b0d4-fe407294ee1e	cf9a712f-a229-476b-9fb7-72cf76d11a37	g.chr2:54128611G>A	ENST00000404125.1	-	28	3216	c.3161C>T	c.(3160-3162)cCa>cTa	p.P1054L	PSME4_ENST00000421748.2_Missense_Mutation_p.P198L	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4	1054					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			AACAATCGCTGGCCACGTCTG	0.438													65	112					0	0	1	0	0	A	54128611	G	A	54128611	3	1	440	1	0	0	0	0	1	0	0	0	12758	1348	47	2	2446	2	PSME4	2	54128611	Missense_Mutation	SNP	G	TCGA-S9-A7IZ-01A-11D-A34A-08		54128611	189070762	7	35273											
LRP2	4036	broad.mit.edu	37	2	170097528	170097528	+	Missense_Mutation	SNP	G	G	T			TCGA-S9-A7IZ-01A-11D-A34A-08	TCGA-S9-A7IZ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233b3927-8f2f-41ab-b0d4-fe407294ee1e	cf9a712f-a229-476b-9fb7-72cf76d11a37	g.chr2:170097528G>T	ENST00000263816.3	-	25	4300	c.4015C>A	c.(4015-4017)Ccc>Acc	p.P1339T	LRP2_ENST00000443831.1_Missense_Mutation_p.P1202T	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	1339	LDL-receptor class A 15.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	GTCCCATTGGGGCAGTCAAAG	0.488													4	60					0.00024832	0.000271313	1	1	0	T	170097528	G	T	170097528	3	4	440	1	0	0	0	0	1	0	0	0	9001	1232	43	5	10172	5	LRP2	2	170097528	Missense_Mutation	SNP	G	TCGA-S9-A7IZ-01A-11D-A34A-08	115968917	170097528	73101845	8	35274											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-S9-A7IZ-01A-11D-A34A-08	TCGA-S9-A7IZ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233b3927-8f2f-41ab-b0d4-fe407294ee1e	cf9a712f-a229-476b-9fb7-72cf76d11a37	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								31	64					0	0	1	0	0	T	209113112	C	T	209113112	3	4	440	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-S9-A7IZ-01A-11D-A34A-08	39015584	209113112	34086261	9	35275											
XPC	7508	broad.mit.edu	37	3	14220007	14220007	+	Missense_Mutation	SNP	G	G	C			TCGA-S9-A7IZ-01A-11D-A34A-08	TCGA-S9-A7IZ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233b3927-8f2f-41ab-b0d4-fe407294ee1e	cf9a712f-a229-476b-9fb7-72cf76d11a37	g.chr3:14220007G>C	ENST00000285021.7	-	1	276	c.62C>G	c.(61-63)tCc>tGc	p.S21C	LSM3_ENST00000306024.3_5'UTR|XPC_ENST00000449060.2_Missense_Mutation_p.S21C	NM_001145769.1|NM_004628.4	NP_001139241.1|NP_004619.3	Q01831	XPC_HUMAN	xeroderma pigmentosum, complementation group C	21					nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal	cytoplasm|nucleoplasm|XPC complex	bubble DNA binding|damaged DNA binding|loop DNA binding|protein binding|single-stranded DNA binding			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CTTGGCCTTGGATTTCTGGCT	0.697			"Mis, N, F, S"			"skin basal cell, skin squamous cell, melanoma"		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				8	56					0	0	1	0	0	C	14220007	G	C	14220007	3	2	440	1	0	0	0	0	1	0	0	0	17501	1174	41	5	1773	5	XPC	3	14220007	Missense_Mutation	SNP	G	TCGA-S9-A7IZ-01A-11D-A34A-08		14220007	183802423	10	35276											
TLL1	7092	broad.mit.edu	37	4	166924714	166924714	+	Silent	SNP	C	C	A			TCGA-S9-A7IZ-01A-11D-A34A-08	TCGA-S9-A7IZ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233b3927-8f2f-41ab-b0d4-fe407294ee1e	cf9a712f-a229-476b-9fb7-72cf76d11a37	g.chr4:166924714C>A	ENST00000061240.2	+	6	1451	c.804C>A	c.(802-804)atC>atA	p.I268I	TLL1_ENST00000513213.1_Silent_p.I268I|TLL1_ENST00000507499.1_Silent_p.I268I	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	268	Metalloprotease (By similarity).				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		GAGAAAACATCCAGCCAGGTG	0.383													21	36					5.26018e-13	6.33368e-13	1	1	0	A	166924714	C	A	166924714	2	1	440	1	0	0	0	0	0	0	0	1	16005	845	30	5		5	TLL1	4	166924714	Silent	SNP	C	TCGA-S9-A7IZ-01A-11D-A34A-08		166924714	24229562	11	35277											
DNAH5	1767	broad.mit.edu	37	5	13923453	13923453	+	Missense_Mutation	SNP	C	C	A			TCGA-S9-A7IZ-01A-11D-A34A-08	TCGA-S9-A7IZ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233b3927-8f2f-41ab-b0d4-fe407294ee1e	cf9a712f-a229-476b-9fb7-72cf76d11a37	g.chr5:13923453C>A	ENST00000265104.4	-	4	478	c.374G>T	c.(373-375)gGg>gTg	p.G125V		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	125	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.G125V(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CACACATACCCCAGTAAGAGC	0.473									Kartagener syndrome				4	201					0.00909568	0.00941483	1	1	0	A	13923453	C	A	13923453	3	1	440	1	0	0	0	0	1	0	0	0	4632	623	22	5	13804	5	DNAH5	5	13923453	Missense_Mutation	SNP	C	TCGA-S9-A7IZ-01A-11D-A34A-08		13923453	166991807	12	35278											
ADAMTS2	9509	broad.mit.edu	37	5	178541201	178541201	+	Silent	SNP	G	G	A			TCGA-S9-A7IZ-01A-11D-A34A-08	TCGA-S9-A7IZ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233b3927-8f2f-41ab-b0d4-fe407294ee1e	cf9a712f-a229-476b-9fb7-72cf76d11a37	g.chr5:178541201G>A	ENST00000251582.7	-	22	3404	c.3303C>T	c.(3301-3303)aaC>aaT	p.N1101N		NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	1101					collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		TGCCCTCCACGTTGGTGAGGT	0.547													4	38					0	0	1	0	0	A	178541201	G	A	178541201	2	1	440	1	0	0	0	0	0	0	0	1	264	1136	40	1		1	ADAMTS2	5	178541201	Silent	SNP	G	TCGA-S9-A7IZ-01A-11D-A34A-08	164617748	178541201	2374059	13	35279											
MYLK4	340156	broad.mit.edu	37	6	2678591	2678591	+	Silent	SNP	C	C	T			TCGA-S9-A7IZ-01A-11D-A34A-08	TCGA-S9-A7IZ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233b3927-8f2f-41ab-b0d4-fe407294ee1e	cf9a712f-a229-476b-9fb7-72cf76d11a37	g.chr6:2678591C>T	ENST00000274643.7	-	10	1245	c.903G>A	c.(901-903)tcG>tcA	p.S301S	MYLK4_ENST00000268446.5_Silent_p.S301S	NM_001012418.3	NP_001012418.2	Q86YV6	MYLK4_HUMAN	myosin light chain kinase family, member 4	301	Protein kinase.						ATP binding|protein serine/threonine kinase activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23	Ovarian(93;0.0412)	all_hematologic(90;0.0897)				CCAGGAAAGGCGACAAACCGC	0.498													4	118					0	0	1	0	0	T	2678591	C	T	2678591	2	4	440	1	0	0	0	0	0	0	0	1	10107	755	27	1		1	MYLK4	6	2678591	Silent	SNP	C	TCGA-S9-A7IZ-01A-11D-A34A-08		2678591	168436476	14	35280											
ARL4A	10124	broad.mit.edu	37	7	12728279	12728282	+	Frame_Shift_Del	DEL	AACA	AACA	-			TCGA-S9-A7IZ-01A-11D-A34A-08	TCGA-S9-A7IZ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233b3927-8f2f-41ab-b0d4-fe407294ee1e	cf9a712f-a229-476b-9fb7-72cf76d11a37	g.chr7:12728279_12728282delAACA	ENST00000396663.1	+	2	882_885	c.400_403delAACA	c.(400-405)aacaaafs	p.NK134fs	ARL4A_ENST00000404894.1_Frame_Shift_Del_p.NK134fs|ARL4A_ENST00000356797.3_Frame_Shift_Del_p.NK134fs|ARL4A_ENST00000396662.1_Frame_Shift_Del_p.NK134fs|ARL4A_ENST00000396664.2_Frame_Shift_Del_p.NK134fs	NM_001037164.2|NM_001195396.1|NM_005738.4|NM_212460.3	NP_001032241.1|NP_001182325.1|NP_005729.1|NP_997625.1	P40617	ARL4A_HUMAN	ADP-ribosylation factor-like 4A	134					small GTPase mediated signal transduction	cytoplasm|nucleolus|plasma membrane	GTP binding|protein binding			NS(2)|lung(3)|ovary(1)	6				UCEC - Uterine corpus endometrioid carcinoma (126;0.176)		TATAGTTGCTAACAAACAAGATTT	0.402													17	74	---	---	---	---						-	12728282	AACA	-	12728279	7	5	440	1	0	1	0	1	0	0	0	0	935	362	13	0	402	0	ARL4A	7	12728279	Frame_Shift_Del	DEL	AACA	TCGA-S9-A7IZ-01A-11D-A34A-08		12728279	146410384	15	35281											
ZAN	7455	broad.mit.edu	37	7	100364638	100364638	+	RNA	SNP	G	G	A			TCGA-S9-A7IZ-01A-11D-A34A-08	TCGA-S9-A7IZ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233b3927-8f2f-41ab-b0d4-fe407294ee1e	cf9a712f-a229-476b-9fb7-72cf76d11a37	g.chr7:100364638G>A	ENST00000542585.1	+	0	4766				ZAN_ENST00000546213.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000349350.6_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			CACAGGTGCCGCCACCTGCAC	0.607													35	122					0	0	1	0	0	A	100364638	G	A	100364638	1	1	440	0	1	0	0	0	0	0	0	0	17573	1087	38	1		1	ZAN	7	100364638	RNA	SNP	G	TCGA-S9-A7IZ-01A-11D-A34A-08	87636359	100364638	58774025	16	35282											
FAM71F1	84691	broad.mit.edu	37	7	128369970	128369970	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A7IZ-01A-11D-A34A-08	TCGA-S9-A7IZ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233b3927-8f2f-41ab-b0d4-fe407294ee1e	cf9a712f-a229-476b-9fb7-72cf76d11a37	g.chr7:128369970C>T	ENST00000315184.5	+	6	921	c.868C>T	c.(868-870)Cgt>Tgt	p.R290C	FAM71F1_ENST00000485070.1_Missense_Mutation_p.R189C	NM_001282788.1|NM_032599.2	NP_001269717.1|NP_115988.1	Q96KD3	F71F1_HUMAN	family with sequence similarity 71, member F1	290										NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18						AGATTCTTCCCGTGAAGACAG	0.527													5	131					0	0	1	0	0	T	128369970	C	T	128369970	3	4	440	1	0	0	0	0	1	0	0	0	5647	652	23	1	890	1	FAM71F1	7	128369970	Missense_Mutation	SNP	C	TCGA-S9-A7IZ-01A-11D-A34A-08	28005332	128369970	30768693	17	35283											
SSPO	23145	broad.mit.edu	37	7	149513538	149513538	+	RNA	SNP	C	C	T			TCGA-S9-A7IZ-01A-11D-A34A-08	TCGA-S9-A7IZ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233b3927-8f2f-41ab-b0d4-fe407294ee1e	cf9a712f-a229-476b-9fb7-72cf76d11a37	g.chr7:149513538C>T	ENST00000378016.2	+	0	11159							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GCCCACGTCACGCAGCAGGTG	0.692													5	2					0	0	1	0	0	T	149513538	C	T	149513538	1	4	440	0	1	0	0	0	0	0	0	0	15245	536	19	1		1	SSPO	7	149513538	RNA	SNP	C	TCGA-S9-A7IZ-01A-11D-A34A-08	21143568	149513538	9625125	18	35284											
MYBL1	4603	broad.mit.edu	37	8	67485730	67485730	+	Silent	SNP	T	T	C			TCGA-S9-A7IZ-01A-11D-A34A-08	TCGA-S9-A7IZ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233b3927-8f2f-41ab-b0d4-fe407294ee1e	cf9a712f-a229-476b-9fb7-72cf76d11a37	g.chr8:67485730T>C	ENST00000522677.3	-	11	1892	c.1482A>G	c.(1480-1482)acA>acG	p.T494T	MYBL1_ENST00000517885.1_Silent_p.T152T|MYBL1_ENST00000524176.2_Silent_p.T494T	NM_001080416.2|NM_001144755.1	NP_001073885.1|NP_001138227.1	P10243	MYBA_HUMAN	v-myb avian myeloblastosis viral oncogene homolog-like 1	494	Negative regulatory domain (By similarity).				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|skin(1)	25			Epithelial(68;0.00211)|all cancers(69;0.00726)|OV - Ovarian serous cystadenocarcinoma(28;0.00989)|BRCA - Breast invasive adenocarcinoma(89;0.0938)			TACCAGGACATGTGTTGAAAA	0.323													23	18					0	0	1	0	0	C	67485730	T	C	67485730	2	2	440	1	0	0	0	0	0	0	0	1	10057	1451	51	3		3	MYBL1	8	67485730	Silent	SNP	T	TCGA-S9-A7IZ-01A-11D-A34A-08		67485730	78878292	19	35285											
EPPK1	83481	broad.mit.edu	37	8	144940742	144940742	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7IZ-01A-11D-A34A-08	TCGA-S9-A7IZ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233b3927-8f2f-41ab-b0d4-fe407294ee1e	cf9a712f-a229-476b-9fb7-72cf76d11a37	g.chr8:144940742G>A	ENST00000525985.1	-	2	6751	c.6680C>T	c.(6679-6681)gCg>gTg	p.A2227V				P58107	EPIPL_HUMAN	epiplakin 1	2227						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)			CAGGACGCCCGCGATGCAGCT	0.677													4	165					0	0	1	0	0	A	144940742	G	A	144940742	3	1	440	1	0	0	0	0	1	0	0	0	5218	1087	38	1	586	1	EPPK1	8	144940742	Missense_Mutation	SNP	G	TCGA-S9-A7IZ-01A-11D-A34A-08	77455012	144940742	1423280	20	35286											
C8orf33	65265	broad.mit.edu	37	8	146278468	146278468	+	Missense_Mutation	SNP	A	A	T			TCGA-S9-A7IZ-01A-11D-A34A-08	TCGA-S9-A7IZ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233b3927-8f2f-41ab-b0d4-fe407294ee1e	cf9a712f-a229-476b-9fb7-72cf76d11a37	g.chr8:146278468A>T	ENST00000331434.6	+	3	453	c.339A>T	c.(337-339)gaA>gaT	p.E113D		NM_023080.2	NP_075568.1	Q9H7E9	CH033_HUMAN	chromosome 8 open reading frame 33	113										endometrium(1)|large_intestine(1)|lung(4)|urinary_tract(1)	7	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;9.1e-38)|all cancers(56;7.37e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.243)		TGGCCCAGGAATTGGCTTGGT	0.597													14	31					0	0	1	0	0	T	146278468	A	T	146278468	3	4	440	1	0	0	0	0	1	0	0	0	2438	98	4	4	349	4	C8orf33	8	146278468	Missense_Mutation	SNP	A	TCGA-S9-A7IZ-01A-11D-A34A-08	1337726	146278468	85554	21	35287											
OR2D2	120776	broad.mit.edu	37	11	6913253	6913253	+	Missense_Mutation	SNP	G	G	C			TCGA-S9-A7IZ-01A-11D-A34A-08	TCGA-S9-A7IZ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233b3927-8f2f-41ab-b0d4-fe407294ee1e	cf9a712f-a229-476b-9fb7-72cf76d11a37	g.chr11:6913253G>C	ENST00000299459.2	-	1	577	c.479C>G	c.(478-480)aCc>aGc	p.T160S		NM_003700.1	NP_003691.1	Q9H210	OR2D2_HUMAN	olfactory receptor, family 2, subfamily D, member 2	160					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	18		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		TATGAAGGTGGTGTCTACCAC	0.502													25	22					0	0	1	0	0	C	6913253	G	C	6913253	3	2	440	1	0	0	0	0	1	0	0	0	11042	1261	44	5	450	5	OR2D2	11	6913253	Missense_Mutation	SNP	G	TCGA-S9-A7IZ-01A-11D-A34A-08		6913253	128093263	22	35288											
AMOTL1	154810	broad.mit.edu	37	11	94532857	94532857	+	Silent	SNP	G	G	A			TCGA-S9-A7IZ-01A-11D-A34A-08	TCGA-S9-A7IZ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233b3927-8f2f-41ab-b0d4-fe407294ee1e	cf9a712f-a229-476b-9fb7-72cf76d11a37	g.chr11:94532857G>A	ENST00000433060.2	+	3	642	c.501G>A	c.(499-501)gtG>gtA	p.V167V	AMOTL1_ENST00000317829.8_Silent_p.V117V|AMOTL1_ENST00000317837.9_Silent_p.V167V	NM_130847.2	NP_570899.1	Q8IY63	AMOL1_HUMAN	angiomotin like 1	167						cytoplasm|tight junction	identical protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	36		Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824)				AACACCAGGTGGACAATACGG	0.527													10	25					0	0	1	0	0	A	94532857	G	A	94532857	2	1	440	1	0	0	0	0	0	0	0	1	579	1335	47	2		2	AMOTL1	11	94532857	Silent	SNP	G	TCGA-S9-A7IZ-01A-11D-A34A-08	87619604	94532857	40473659	23	35289											
EXPH5	23086	broad.mit.edu	37	11	108383203	108383203	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A7IZ-01A-11D-A34A-08	TCGA-S9-A7IZ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233b3927-8f2f-41ab-b0d4-fe407294ee1e	cf9a712f-a229-476b-9fb7-72cf76d11a37	g.chr11:108383203T>C	ENST00000265843.4	-	6	3141	c.3031A>G	c.(3031-3033)Aaa>Gaa	p.K1011E	EXPH5_ENST00000428840.1_Missense_Mutation_p.K935E|EXPH5_ENST00000525344.1_Missense_Mutation_p.K1004E|EXPH5_ENST00000443411.1_Missense_Mutation_p.K823E	NM_015065.2	NP_055880	Q149M6	Q149M6_HUMAN	exophilin 5	1011					intracellular protein transport		Rab GTPase binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		TCAGAAACTTTGGAATTGCTT	0.378													4	111					0	0	1	0	0	C	108383203	T	C	108383203	3	2	440	1	0	0	0	0	1	0	0	0	5350	1821	63	3	2942	3	EXPH5	11	108383203	Missense_Mutation	SNP	T	TCGA-S9-A7IZ-01A-11D-A34A-08	13850346	108383203	26623313	24	35290											
PHLDB1	23187	broad.mit.edu	37	11	118516368	118516368	+	Splice_Site	SNP	G	G	A			TCGA-S9-A7IZ-01A-11D-A34A-08	TCGA-S9-A7IZ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233b3927-8f2f-41ab-b0d4-fe407294ee1e	cf9a712f-a229-476b-9fb7-72cf76d11a37	g.chr11:118516368G>A	ENST00000361417.2	+	17	3827	c.3416G>A	c.(3415-3417)aGc>aAc	p.S1139N	PHLDB1_ENST00000524713.1_Splice_Site_p.S282N|PHLDB1_ENST00000527898.1_Splice_Site_p.S190N|PHLDB1_ENST00000534672.1_3'UTR|PHLDB1_ENST00000356063.5_Splice_Site_p.S1092N	NM_015157.3	NP_055972.1	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B, member 1	1139										breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		AACATGTCCAGGTACACCCGA	0.637													31	66					0	0	1	0	0	A	118516368	G	A	118516368	5	1	440	1	0	0	0	0	0	0	1	0	11899	1014	35	2	3474	2	PHLDB1	11	118516368	Splice_Site	SNP	G	TCGA-S9-A7IZ-01A-11D-A34A-08	10133165	118516368	16490148	25	35291											
EMG1	10436	broad.mit.edu	37	12	7080210	7080211	+	Splice_Site	INS	-	-	G	rs141646579	by1000genomes	TCGA-S9-A7IZ-01A-11D-A34A-08	TCGA-S9-A7IZ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233b3927-8f2f-41ab-b0d4-fe407294ee1e	cf9a712f-a229-476b-9fb7-72cf76d11a37	g.chr12:7080210_7080211insG	ENST00000261406.6	+	2	266		c.e2-1		EMG1_ENST00000546220.1_3'UTR	NM_006331.7	NP_006322.4	Q92979	NEP1_HUMAN	EMG1 N1-specific pseudouridine methyltransferase						ribosomal small subunit biogenesis	cytoplasm|nucleolus	rRNA (pseudouridine) methyltransferase activity|rRNA binding										CGGAGGCCGTAGTTTATTGTGG	0.569													8	17	---	---	---	---						G	7080211	-	G	7080210	8	5	440	1	0	1	1	0	0	0	1	0	5118	420	15	0	126	0	EMG1	12	7080210	Splice_Site	INS	-	TCGA-S9-A7IZ-01A-11D-A34A-08		7080210	126771685	26	35292											
CDKN1B	1027	broad.mit.edu	37	12	12870948	12870948	+	Frame_Shift_Del	DEL	A	A	-			TCGA-S9-A7IZ-01A-11D-A34A-08	TCGA-S9-A7IZ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233b3927-8f2f-41ab-b0d4-fe407294ee1e	cf9a712f-a229-476b-9fb7-72cf76d11a37	g.chr12:12870948delA	ENST00000228872.4	+	1	891	c.175delA	c.(175-177)aagfs	p.K59fs	CDKN1B_ENST00000396340.1_Frame_Shift_Del_p.K59fs|CDKN1B_ENST00000477087.1_Intron	NM_004064.3	NP_004055.1	P46527	CDN1B_HUMAN	cyclin-dependent kinase inhibitor 1B (p27, Kip1)	59					autophagic cell death|cell cycle arrest|cellular response to lithium ion|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of transcription, DNA-dependent|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of protein catabolic process|S phase of mitotic cell cycle	cytosol|endosome|nucleoplasm	cyclin-dependent protein kinase inhibitor activity|protein phosphatase binding|transforming growth factor beta receptor, cytoplasmic mediator activity			breast(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(5)	13		Prostate(47;0.0322)|all_epithelial(100;0.159)		BRCA - Breast invasive adenocarcinoma(232;0.0336)		GAGCCAGCGCAAGTGGAATTT	0.577													65	77	---	---	---	---						-	12870948	A	-	12870948	7	5	440	1	0	1	0	1	0	0	0	0	3181	131	5	0	177	0	CDKN1B	12	12870948	Frame_Shift_Del	DEL	A	TCGA-S9-A7IZ-01A-11D-A34A-08	5790738	12870948	120980947	27	35293											
SMARCC2	6601	broad.mit.edu	37	12	56558274	56558274	+	Silent	SNP	C	C	T	rs142435936		TCGA-S9-A7IZ-01A-11D-A34A-08	TCGA-S9-A7IZ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233b3927-8f2f-41ab-b0d4-fe407294ee1e	cf9a712f-a229-476b-9fb7-72cf76d11a37	g.chr12:56558274C>T	ENST00000550164.1	-	28	3488	c.3474G>A	c.(3472-3474)ccG>ccA	p.P1158P	SMARCC2_ENST00000394023.3_Intron|SMARCC2_ENST00000267064.4_Silent_p.P1127P|SMARCC2_ENST00000347471.4_Intron|RP11-977G19.5_ENST00000553176.1_RNA			Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	1127	Pro-rich.				chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			GGAGAGTGCCCGGGGCGAACG	0.592													7	79					0	0	1	0	0	T	56558274	C	T	56558274	2	4	440	1	0	0	0	0	0	0	0	1	14830	639	23	1		1	SMARCC2	12	56558274	Silent	SNP	C	TCGA-S9-A7IZ-01A-11D-A34A-08	43687326	56558274	77293621	28	35294											
WSCD2	9671	broad.mit.edu	37	12	108589876	108589876	+	Silent	SNP	C	C	T			TCGA-S9-A7IZ-01A-11D-A34A-08	TCGA-S9-A7IZ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233b3927-8f2f-41ab-b0d4-fe407294ee1e	cf9a712f-a229-476b-9fb7-72cf76d11a37	g.chr12:108589876C>T	ENST00000332082.4	+	3	1085	c.267C>T	c.(265-267)taC>taT	p.Y89Y	WSCD2_ENST00000261400.3_Silent_p.Y89Y|WSCD2_ENST00000549903.1_Silent_p.Y89Y|WSCD2_ENST00000547525.1_Silent_p.Y89Y			Q2TBF2	WSCD2_HUMAN	WSC domain containing 2	89						integral to membrane				breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	57						CTCGCAGGTACGGACCCTGGT	0.612													34	68					0	0	1	0	0	T	108589876	C	T	108589876	2	4	440	1	0	0	0	0	0	0	0	1	17467	547	19	1		1	WSCD2	12	108589876	Silent	SNP	C	TCGA-S9-A7IZ-01A-11D-A34A-08	52031602	108589876	25262019	29	35295											
CAMKK2	10645	broad.mit.edu	37	12	121678617	121678617	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A7IZ-01A-11D-A34A-08	TCGA-S9-A7IZ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233b3927-8f2f-41ab-b0d4-fe407294ee1e	cf9a712f-a229-476b-9fb7-72cf76d11a37	g.chr12:121678617C>T	ENST00000324774.5	-	17	2480	c.1652G>A	c.(1651-1653)gGa>gAa	p.G551E	CAMKK2_ENST00000347034.2_Missense_Mutation_p.G508E|CAMKK2_ENST00000402834.4_Missense_Mutation_p.G551E|CAMKK2_ENST00000392474.2_Intron|CAMKK2_ENST00000412367.2_Missense_Mutation_p.E537K|CAMKK2_ENST00000538733.1_Missense_Mutation_p.E494K|CAMKK2_ENST00000545538.1_Intron|CAMKK2_ENST00000337174.3_Missense_Mutation_p.E537K|CAMKK2_ENST00000404169.3_Missense_Mutation_p.G551E	NM_006549.3	NP_006540.3	Q96RR4	KKCC2_HUMAN	calcium/calmodulin-dependent protein kinase kinase 2, beta	551					calcium-mediated signaling|MAPKKK cascade|positive regulation of transcription, DNA-dependent|protein autophosphorylation|regulation of protein kinase activity	cytoplasm	ATP binding|calcium ion binding|calmodulin binding|calmodulin-dependent protein kinase activity|protein tyrosine kinase activity			endometrium(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	17	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					AGCACTTCCTCCTCCCCCACG	0.647													15	39					0	0	1	0	0	T	121678617	C	T	121678617	3	4	440	1	0	0	0	0	1	0	0	0	2625	864	30	2	118	2	CAMKK2	12	121678617	Missense_Mutation	SNP	C	TCGA-S9-A7IZ-01A-11D-A34A-08	13088741	121678617	12173278	30	35296											
NBEA	26960	broad.mit.edu	37	13	36223967	36223967	+	Missense_Mutation	SNP	G	G	T			TCGA-S9-A7IZ-01A-11D-A34A-08	TCGA-S9-A7IZ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233b3927-8f2f-41ab-b0d4-fe407294ee1e	cf9a712f-a229-476b-9fb7-72cf76d11a37	g.chr13:36223967G>T	ENST00000540320.1	+	51	8417	c.7883G>T	c.(7882-7884)aGa>aTa	p.R2628I	NBEA_ENST00000310336.4_Missense_Mutation_p.R2628I|NBEA_ENST00000379922.3_Missense_Mutation_p.R206I|NBEA_ENST00000537702.1_Missense_Mutation_p.R421I|NBEA_ENST00000379939.2_Missense_Mutation_p.R2625I|NBEA_ENST00000400445.3_Missense_Mutation_p.R2628I			Q8NFP9	NBEA_HUMAN	neurobeachin	2628						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		GCAGTGAATAGATGGCACAAC	0.448													18	54					5.35267e-07	6.31615e-07	1	1	0	T	36223967	G	T	36223967	3	4	440	1	0	0	0	0	1	0	0	0	10235	942	33	4	8085	4	NBEA	13	36223967	Missense_Mutation	SNP	G	TCGA-S9-A7IZ-01A-11D-A34A-08		36223967	78945911	31	35297											
SPG20	23111	broad.mit.edu	37	13	36909272	36909272	+	Frame_Shift_Del	DEL	A	A	-			TCGA-S9-A7IZ-01A-11D-A34A-08	TCGA-S9-A7IZ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233b3927-8f2f-41ab-b0d4-fe407294ee1e	cf9a712f-a229-476b-9fb7-72cf76d11a37	g.chr13:36909272delA	ENST00000451493.1	-	2	913	c.696delT	c.(694-696)tttfs	p.F232fs	SPG20_ENST00000495510.1_5'UTR|SPG20_ENST00000494062.2_Frame_Shift_Del_p.F232fs|SPG20_ENST00000355182.4_Frame_Shift_Del_p.F232fs|SPG20_ENST00000438666.2_Frame_Shift_Del_p.F232fs	NM_001142295.1	NP_001135767.1	Q8N0X7	SPG20_HUMAN	spastic paraplegia 20 (Troyer syndrome)	232					cell death	cytoplasm	ubiquitin protein ligase binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	27		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;2.42e-08)|Epithelial(112;1.58e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00128)|BRCA - Breast invasive adenocarcinoma(63;0.0125)|GBM - Glioblastoma multiforme(144;0.026)		CAGGATTTACAAAAAAAATCT	0.433													32	60	---	---	---	---						-	36909272	A	-	36909272	7	5	440	1	0	1	0	1	0	0	0	0	15098	127	5	0	1336	0	SPG20	13	36909272	Frame_Shift_Del	DEL	A	TCGA-S9-A7IZ-01A-11D-A34A-08	685305	36909272	78260606	32	35298											
RGS6	9628	broad.mit.edu	37	14	72976895	72976895	+	Nonsense_Mutation	SNP	G	G	A			TCGA-S9-A7IZ-01A-11D-A34A-08	TCGA-S9-A7IZ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233b3927-8f2f-41ab-b0d4-fe407294ee1e	cf9a712f-a229-476b-9fb7-72cf76d11a37	g.chr14:72976895G>A	ENST00000553530.1	+	14	1206	c.999G>A	c.(997-999)tgG>tgA	p.W333*	RGS6_ENST00000402788.2_Nonsense_Mutation_p.W333*|RGS6_ENST00000555571.1_Nonsense_Mutation_p.W333*|RGS6_ENST00000406236.4_Nonsense_Mutation_p.W333*|RGS6_ENST00000556437.1_Nonsense_Mutation_p.W333*|RGS6_ENST00000407322.4_Nonsense_Mutation_p.W333*|RGS6_ENST00000553525.1_Nonsense_Mutation_p.W333*|RGS6_ENST00000404301.2_Nonsense_Mutation_p.W333*|RGS6_ENST00000434263.2_Nonsense_Mutation_p.W264*|RGS6_ENST00000343854.6_Nonsense_Mutation_p.W296*|RGS6_ENST00000355512.6_Nonsense_Mutation_p.W333*|RGS6_ENST00000554782.1_Nonsense_Mutation_p.W194*	NM_001204417.1|NM_001204418.1|NM_001204420.1|NM_001204421.1|NM_001204422.1|NM_004296.5	NP_001191346.1|NP_001191347.1|NP_001191349.1|NP_001191350.1|NP_001191351.1|NP_004287.3	P49758	RGS6_HUMAN	regulator of G-protein signaling 6	333					G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33				all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476)		TAAAAAGATGGGGCTTCTCTT	0.453													54	89					0	0	1	0	0	A	72976895	G	A	72976895	4	1	440	1	0	0	0	0	0	1	0	0	13359	1241	43	2	1049	2	RGS6	14	72976895	Nonsense_Mutation	SNP	G	TCGA-S9-A7IZ-01A-11D-A34A-08		72976895	34372645	33	35299											
ADAMTS7	11173	broad.mit.edu	37	15	79060504	79060504	+	Missense_Mutation	SNP	C	C	A			TCGA-S9-A7IZ-01A-11D-A34A-08	TCGA-S9-A7IZ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233b3927-8f2f-41ab-b0d4-fe407294ee1e	cf9a712f-a229-476b-9fb7-72cf76d11a37	g.chr15:79060504C>A	ENST00000388820.4	-	17	2826	c.2616G>T	c.(2614-2616)agG>agT	p.R872S	ADAMTS7_ENST00000566303.1_5'UTR	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	872	TSP type-1 2.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						CGCTGCACTTCCTCTGTTGGT	0.697													3	9					6.4e-05	7.12453e-05	1	1	0	A	79060504	C	A	79060504	3	1	440	1	0	0	0	0	1	0	0	0	270	854	30	5	2476	5	ADAMTS7	15	79060504	Missense_Mutation	SNP	C	TCGA-S9-A7IZ-01A-11D-A34A-08		79060504	23470888	34	35300											
TP53	7157	broad.mit.edu	37	17	7577093	7577113	+	In_Frame_Del	DEL	CGGTCTCTCCCAGGACAGGCA	CGGTCTCTCCCAGGACAGGCA	-	rs28934574		TCGA-S9-A7IZ-01A-11D-A34A-08	TCGA-S9-A7IZ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233b3927-8f2f-41ab-b0d4-fe407294ee1e	cf9a712f-a229-476b-9fb7-72cf76d11a37	g.chr17:7577093_7577113delCGGTCTCTCCCAGGACAGGCA	ENST00000420246.2	-	8	957_977	c.825_845delTGCCTGTCCTGGGAGAGACCG	c.(823-846)tgtgcctgtcctgggagagaccgg>tgg	p.275_282CACPGRDR>W	TP53_ENST00000445888.2_In_Frame_Del_p.275_282CACPGRDR>W|TP53_ENST00000359597.4_In_Frame_Del_p.275_282CACPGRDR>W|TP53_ENST00000455263.2_In_Frame_Del_p.275_282CACPGRDR>W|TP53_ENST00000413465.2_Intron|TP53_ENST00000269305.4_In_Frame_Del_p.275_282CACPGRDR>W	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	275	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R282W(401)|p.R280T(65)|p.P278L(61)|p.P278S(55)|p.R280K(49)|p.G279E(32)|p.P278R(30)|p.R282G(29)|p.D281E(28)|p.R282Q(27)|p.D281N(25)|p.P278A(24)|p.C277F(24)|p.P278T(23)|p.R280G(20)|p.D281H(19)|p.R282P(17)|p.R280I(16)|p.D281Y(16)|p.R280S(15)|p.A276P(15)|p.C277Y(15)|p.P278H(13)|p.D281G(10)|p.R280fs*65(9)|p.A276S(9)|p.G279R(9)|p.R280*(8)|p.C277*(8)|p.0?(8)|p.C275W(7)|p.A276V(7)|p.A276T(7)|p.A276D(6)|p.P278fs*67(5)|p.D281V(5)|p.D281D(5)|p.C277G(5)|p.R282fs*24(4)|p.C275C(4)|p.A276G(4)|p.G279V(4)|p.C277C(4)|p.R282L(3)|p.R282H(3)|p.R282R(3)|p.R280R(3)|p.P278F(3)|p.G279G(3)|p.D281fs*63(2)|p.G279fs*27(2)|p.D281_R282>EW(2)|p.D281A(2)|p.D281>AGPY(2)|p.R280_D281delRD(2)|p.A276A(2)|p.G279fs*65(2)|p.A276fs*69(2)|p.G279W(2)|p.P278fs*28(2)|p.?(2)|p.C277W(2)|p.C277fs*29(2)|p.G279_R280delGR(1)|p.C275_A276ins10(1)|p.V274_P278del(1)|p.G279fs*59(1)|p.P278_G279insXXXXX(1)|p.D281_R282insXX(1)|p.A276_C277delAC(1)|p.F270_D281del12(1)|p.C275fs*20(1)|p.A276fs*29(1)|p.G279fs*26(1)|p.P278P(1)|p.C277_P278insXXXXXXX(1)|p.A276fs*31(1)|p.V272_K292del21(1)|p.D281R(1)|p.A276_R283delACPGRDRR(1)|p.R273_C275delRVC(1)|p.R280fs*62(1)|p.C275*(1)|p.D281fs*24(1)|p.A276fs*70(1)|p.L265_K305del41(1)|p.C275fs*67(1)|p.R282fs*63(1)|p.A276fs*64(1)|p.A276fs*68(1)|p.R283fs*62(1)|p.R282_E287delRRTEEE(1)|p.S269fs*21(1)|p.C275_R283delCACPGRDRR(1)|p.C277R(1)|p.C277S(1)|p.D281_R282delDR(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)		CTCTGTGCGCCGGTCTCTCCCAGGACAGGCACAAACACGCA	0.552		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)			17	16	---	---	---	---						-	7577113	CGGTCTCTCCCAGGACAGGCA	-	7577093	7	5	440	1	0	1	0	1	0	0	0	0	16442	652	23	0	441	0	TP53	17	7577093	In_Frame_Del	DEL	CGGTCTCTCCCAGGACAGGCA	TCGA-S9-A7IZ-01A-11D-A34A-08		7577093	73618117	35	35301											
CACNA1G	8913	broad.mit.edu	37	17	48649291	48649291	+	Silent	SNP	C	C	T			TCGA-S9-A7IZ-01A-11D-A34A-08	TCGA-S9-A7IZ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233b3927-8f2f-41ab-b0d4-fe407294ee1e	cf9a712f-a229-476b-9fb7-72cf76d11a37	g.chr17:48649291C>T	ENST00000352832.5	+	5	1011	c.639C>T	c.(637-639)aaC>aaT	p.N213N	CACNA1G_ENST00000503485.1_Silent_p.N213N|CACNA1G_ENST00000515165.1_Silent_p.N213N|CACNA1G_ENST00000510115.1_Silent_p.N213N|CACNA1G_ENST00000514181.1_Silent_p.N213N|CACNA1G_ENST00000515765.1_Silent_p.N213N|CACNA1G_ENST00000359106.5_Silent_p.N213N|CACNA1G_ENST00000429973.2_Silent_p.N213N|CACNA1G_ENST00000514079.1_Silent_p.N213N|CACNA1G_ENST00000505165.1_Silent_p.N213N|CACNA1G_ENST00000507609.1_Silent_p.N213N|CACNA1G_ENST00000507510.2_Silent_p.N213N|CACNA1G_ENST00000358244.5_Silent_p.N213N|CACNA1G_ENST00000513689.2_Silent_p.N213N|CACNA1G_ENST00000507336.1_Silent_p.N213N|CACNA1G_ENST00000416767.4_Silent_p.N213N|CACNA1G_ENST00000360761.4_Silent_p.N213N|CACNA1G_ENST00000507896.1_Silent_p.N213N|CACNA1G_ENST00000512389.1_Silent_p.N213N|CACNA1G_ENST00000514717.1_Silent_p.N213N|CACNA1G_ENST00000510366.1_Silent_p.N213N|CACNA1G_ENST00000515411.1_Silent_p.N213N|CACNA1G_ENST00000513964.1_Silent_p.N213N|CACNA1G_ENST00000442258.2_Silent_p.N213N|CACNA1G_ENST00000354983.4_Silent_p.N213N|CACNA1G_ENST00000502264.1_Silent_p.N213N	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	213					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	TGCTGGGCAACGTCCTGCTGC	0.617													24	52					0	0	1	0	0	T	48649291	C	T	48649291	2	4	440	1	0	0	0	0	0	0	0	1	2562	535	19	1		1	CACNA1G	17	48649291	Silent	SNP	C	TCGA-S9-A7IZ-01A-11D-A34A-08	41072198	48649291	32545919	36	35302											
ZNF234	10780	broad.mit.edu	37	19	44660574	44660574	+	Silent	SNP	G	G	A			TCGA-S9-A7IZ-01A-11D-A34A-08	TCGA-S9-A7IZ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233b3927-8f2f-41ab-b0d4-fe407294ee1e	cf9a712f-a229-476b-9fb7-72cf76d11a37	g.chr19:44660574G>A	ENST00000426739.2	+	6	663	c.405G>A	c.(403-405)agG>agA	p.R135R	ZNF234_ENST00000592437.1_Silent_p.R135R	NM_006630.2	NP_006621.1	Q14588	ZN234_HUMAN	zinc finger protein 234	135	KRNB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)	23		Prostate(69;0.0435)				GCCAGGTTAGGGCAGGACTAT	0.378													20	44					0	0	1	0	0	A	44660574	G	A	44660574	2	1	440	1	0	0	0	0	0	0	0	1	17845	1223	43	2		2	ZNF234	19	44660574	Silent	SNP	G	TCGA-S9-A7IZ-01A-11D-A34A-08		44660574	14468409	37	35303											
KIR3DL1	3811	broad.mit.edu	37	19	55331320	55331320	+	Missense_Mutation	SNP	C	C	A			TCGA-S9-A7IZ-01A-11D-A34A-08	TCGA-S9-A7IZ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233b3927-8f2f-41ab-b0d4-fe407294ee1e	cf9a712f-a229-476b-9fb7-72cf76d11a37	g.chr19:55331320C>A	ENST00000391728.4	+	4	541	c.508C>A	c.(508-510)Cag>Aag	p.Q170K	KIR3DL1_ENST00000402254.2_Missense_Mutation_p.Q170K|KIR3DL1_ENST00000358178.4_Missense_Mutation_p.Q75K|KIR3DL1_ENST00000538269.1_Missense_Mutation_p.Q170K|KIR3DL1_ENST00000326542.7_Missense_Mutation_p.Q170K|KIR3DL1_ENST00000541392.1_Missense_Mutation_p.Q170K	NM_013289.2	NP_037421.2			killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1											breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(193;0.0192)		CCTCGTTGGACAGATCCATGA	0.517													5	272					0.0215528	0.0219244	1	1	0	A	55331320	C	A	55331320	3	1	440	1	0	0	0	0	1	0	0	0	8363	479	17	5	522	5	KIR3DL1	19	55331320	Missense_Mutation	SNP	C	TCGA-S9-A7IZ-01A-11D-A34A-08	10670746	55331320	3797663	38	35304											
PAK7	57144	broad.mit.edu	37	20	9523285	9523285	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7IZ-01A-11D-A34A-08	TCGA-S9-A7IZ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233b3927-8f2f-41ab-b0d4-fe407294ee1e	cf9a712f-a229-476b-9fb7-72cf76d11a37	g.chr20:9523285G>A	ENST00000378429.3	-	10	2498	c.1952C>T	c.(1951-1953)gCg>gTg	p.A651V	PAK7_ENST00000353224.5_Missense_Mutation_p.A651V|PAK7_ENST00000378423.1_Missense_Mutation_p.A651V	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	651	Protein kinase.						ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			CCTCCGCATCGCCTGGAGGGG	0.507													34	81					0	0	1	0	0	A	9523285	G	A	9523285	3	1	440	1	0	0	0	0	1	0	0	0	11452	1087	38	1	215	1	PAK7	20	9523285	Missense_Mutation	SNP	G	TCGA-S9-A7IZ-01A-11D-A34A-08		9523285	53502235	39	35305											
DIDO1	11083	broad.mit.edu	37	20	61511261	61511261	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7IZ-01A-11D-A34A-08	TCGA-S9-A7IZ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233b3927-8f2f-41ab-b0d4-fe407294ee1e	cf9a712f-a229-476b-9fb7-72cf76d11a37	g.chr20:61511261G>A	ENST00000266070.4	-	16	6372	c.6047C>T	c.(6046-6048)cCg>cTg	p.P2016L	DIDO1_ENST00000395343.1_Missense_Mutation_p.P2016L	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	2016	Pro-rich.				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					CATCACCTGCGGGGCCTGGCC	0.687													4	158					0	0	1	0	0	A	61511261	G	A	61511261	3	1	440	1	0	0	0	0	1	0	0	0	4550	1116	39	1	679	1	DIDO1	20	61511261	Missense_Mutation	SNP	G	TCGA-S9-A7IZ-01A-11D-A34A-08	51987976	61511261	1514259	40	35306											
ZBTB46	140685	broad.mit.edu	37	20	62422012	62422012	+	Silent	SNP	G	G	T			TCGA-S9-A7IZ-01A-11D-A34A-08	TCGA-S9-A7IZ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233b3927-8f2f-41ab-b0d4-fe407294ee1e	cf9a712f-a229-476b-9fb7-72cf76d11a37	g.chr20:62422012G>T	ENST00000245663.4	-	2	249	c.99C>A	c.(97-99)gtC>gtA	p.V33V	ZBTB46_ENST00000302995.2_Silent_p.V33V|ZBTB46_ENST00000395104.1_Silent_p.V33V	NM_025224.3	NP_079500.2	Q86UZ6	ZBT46_HUMAN	zinc finger and BTB domain containing 46	33	BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09)					CGACCACGCAGACGTCGCACA	0.587													7	30					0.000274275	0.000294222	1	1	0	T	62422012	G	T	62422012	2	4	440	1	0	0	0	0	0	0	0	1	17606	929	33	4		4	ZBTB46	20	62422012	Silent	SNP	G	TCGA-S9-A7IZ-01A-11D-A34A-08	910751	62422012	603508	41	35307											
DIP2A	23181	broad.mit.edu	37	21	47918601	47918601	+	Silent	SNP	C	C	T			TCGA-S9-A7IZ-01A-11D-A34A-08	TCGA-S9-A7IZ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233b3927-8f2f-41ab-b0d4-fe407294ee1e	cf9a712f-a229-476b-9fb7-72cf76d11a37	g.chr21:47918601C>T	ENST00000318711.7	+	5	693	c.510C>T	c.(508-510)gtC>gtT	p.V170V	DIP2A_ENST00000400274.1_Silent_p.V170V|DIP2A_ENST00000466639.1_Silent_p.V170V|DIP2A_ENST00000435722.3_Silent_p.V170V|DIP2A_ENST00000457905.3_Silent_p.V170V|DIP2A_ENST00000417564.2_Silent_p.V170V|DIP2A_ENST00000427143.2_Silent_p.V106V	NM_001146116.1|NM_015151.3	NP_001139588.1|NP_055966.2	Q14689	DIP2A_HUMAN	DIP2 disco-interacting protein 2 homolog A (Drosophila)	170					multicellular organismal development	nucleus	catalytic activity|transcription factor binding			cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		TCGACCGGGTCATTCAGGGCT	0.667													6	91					0	0	1	0	0	T	47918601	C	T	47918601	2	4	440	1	0	0	0	0	0	0	0	1	4555	813	29	2		2	DIP2A	21	47918601	Silent	SNP	C	TCGA-S9-A7IZ-01A-11D-A34A-08		47918601	211294	42	35308											
FGD1	2245	broad.mit.edu	37	X	54475673	54475673	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7IZ-01A-11D-A34A-08	TCGA-S9-A7IZ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233b3927-8f2f-41ab-b0d4-fe407294ee1e	cf9a712f-a229-476b-9fb7-72cf76d11a37	g.chrX:54475673G>A	ENST00000375135.3	-	15	2910	c.2177C>T	c.(2176-2178)aCg>aTg	p.T726M		NM_004463.2	NP_004454.2	P98174	FGD1_HUMAN	FYVE, RhoGEF and PH domain containing 1	726					actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|organ morphogenesis|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|nucleus|plasma membrane|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						CCGGATGGGCGTAGGTGCCCG	0.607													5	18					0	0	1	0	0	A	54475673	G	A	54475673	3	1	440	1	0	0	0	0	1	0	0	0	5865	1145	40	1	724	1	FGD1	23	54475673	Missense_Mutation	SNP	G	TCGA-S9-A7IZ-01A-11D-A34A-08		54475673	100794887	43	35309											
ATRX	546	broad.mit.edu	37	X	76938929	76938929	+	Frame_Shift_Del	DEL	C	C	-			TCGA-S9-A7IZ-01A-11D-A34A-08	TCGA-S9-A7IZ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233b3927-8f2f-41ab-b0d4-fe407294ee1e	cf9a712f-a229-476b-9fb7-72cf76d11a37	g.chrX:76938929delC	ENST00000373344.5	-	9	2033	c.1819delG	c.(1819-1821)gaafs	p.E607fs	ATRX_ENST00000395603.3_Frame_Shift_Del_p.E569fs|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	607					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)	TGTGGAACTTCCTGACAATCA	0.353			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						173	330	---	---	---	---						-	76938929	C	-	76938929	7	5	440	1	0	1	0	1	0	0	0	0	1206	864	30	0	5767	0	ATRX	23	76938929	Frame_Shift_Del	DEL	C	TCGA-S9-A7IZ-01A-11D-A34A-08	22463256	76938929	78331631	44	35310											
ZCCHC12	170261	broad.mit.edu	37	X	117959361	117959361	+	Missense_Mutation	SNP	G	G	T			TCGA-S9-A7IZ-01A-11D-A34A-08	TCGA-S9-A7IZ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233b3927-8f2f-41ab-b0d4-fe407294ee1e	cf9a712f-a229-476b-9fb7-72cf76d11a37	g.chrX:117959361G>T	ENST00000310164.2	+	4	661	c.154G>T	c.(154-156)Gtg>Ttg	p.V52L		NM_173798.2	NP_776159.1	Q6PEW1	ZCH12_HUMAN	zinc finger, CCHC domain containing 12	52					regulation of transcription, DNA-dependent|transcription, DNA-dependent		nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	22						ctcggggagggtggtgccagc	0.552													14	70					1.49906e-05	1.70086e-05	1	1	0	T	117959361	G	T	117959361	3	4	440	1	0	0	0	0	1	0	0	0	17640	1261	44	5	156	5	ZCCHC12	23	117959361	Missense_Mutation	SNP	G	TCGA-S9-A7IZ-01A-11D-A34A-08	41020432	117959361	37311199	45	35311											
DCAF12L2	340578	broad.mit.edu	37	X	125298906	125298906	+	Silent	SNP	C	C	T			TCGA-S9-A7IZ-01A-11D-A34A-08	TCGA-S9-A7IZ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233b3927-8f2f-41ab-b0d4-fe407294ee1e	cf9a712f-a229-476b-9fb7-72cf76d11a37	g.chrX:125298906C>T	ENST00000538699.1	-	2	1082	c.1002G>A	c.(1000-1002)ccG>ccA	p.P334P	DCAF12L2_ENST00000360028.2_Silent_p.P334P	NM_001013628.2	NP_001013650.1	Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	334								p.P334P(1)		NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						GGCGCTGGCGCGGATCCAGGA	0.622													41	62					0	0	1	0	0	T	125298906	C	T	125298906	2	4	440	1	0	0	0	0	0	0	0	1	4289	755	27	1		1	DCAF12L2	23	125298906	Silent	SNP	C	TCGA-S9-A7IZ-01A-11D-A34A-08	7339545	125298906	29971654	46	35312											
CPSF3L	54973	broad.mit.edu	37	1	1250944	1250944	+	Missense_Mutation	SNP	C	C	G			TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chr1:1250944C>G	ENST00000540437.1	-	7	957	c.502G>C	c.(502-504)Gcc>Ccc	p.A168P	CPSF3L_ENST00000421495.2_5'UTR|CPSF3L_ENST00000462432.1_5'UTR|CPSF3L_ENST00000545578.1_Missense_Mutation_p.A133P|CPSF3L_ENST00000419704.1_Missense_Mutation_p.A61P|CPSF3L_ENST00000435064.1_Missense_Mutation_p.A162P|CPSF3L_ENST00000450926.2_Intron|CPSF3L_ENST00000411962.1_Missense_Mutation_p.A64P	NM_001256456.1	NP_001243385.1	Q5TA45	INT11_HUMAN	cleavage and polyadenylation specific factor 3-like	162						Golgi apparatus|nucleus	hydrolase activity			endometrium(4)|kidney(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(3)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(86;4.35e-21)|Colorectal(212;0.000166)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.00235)|BRCA - Breast invasive adenocarcinoma(365;0.00255)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0349)|Lung(427;0.201)		TGGAACATGGCTGCCCCCAGC	0.607													4	78					0	0	1	0	0	G	1250944	C	G	1250944	3	3	441	1	0	0	0	0	1	0	0	0	3850	797	28	4	1370	4	CPSF3L	1	1250944	Missense_Mutation	SNP	C	TCGA-S9-A7J0-01A-11D-A34A-08		1250944	247999677	1	35313											
PDE4B	5142	broad.mit.edu	37	1	66384510	66384510	+	Missense_Mutation	SNP	C	C	G			TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chr1:66384510C>G	ENST00000329654.4	+	3	460	c.273C>G	c.(271-273)agC>agG	p.S91R	PDE4B_ENST00000371049.3_Missense_Mutation_p.S91R	NM_001037341.1	NP_001032418.1	Q07343	PDE4B_HUMAN	phosphodiesterase 4B, cAMP-specific	91					signal transduction	cytosol|insoluble fraction|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	37					Adenosine monophosphate(DB00131)|Amrinone(DB01427)|Caffeine(DB00201)|Cilostazol(DB01166)|Dyphylline(DB00651)|Enprofylline(DB00824)|Papaverine(DB01113)|Pentoxifylline(DB00806)|Theophylline(DB00277)	CAACTGTAAGCCAGGAGTGGT	0.398													16	42					0	0	1	0	0	G	66384510	C	G	66384510	3	3	441	1	0	0	0	0	1	0	0	0	11687	738	26	5	279	5	PDE4B	1	66384510	Missense_Mutation	SNP	C	TCGA-S9-A7J0-01A-11D-A34A-08	65133566	66384510	182866111	2	35314											
NRAS	4893	broad.mit.edu	37	1	115258745	115258745	+	Missense_Mutation	SNP	C	C	G	rs121434595		TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chr1:115258745C>G	ENST00000369535.4	-	2	290	c.37G>C	c.(37-39)Ggt>Cgt	p.G13R		NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	13			G -> D (in a patient with an autoimmune lymphoproliferative disorder).|G -> R (in colorectal cancer).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	Golgi membrane|plasma membrane	GTP binding|GTPase activity	p.G13R(76)|p.G13C(23)|p.G13S(5)|p.G13N(1)|p.G13Y(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TTCCCAACACCACCTGCTCCA	0.498	G13R(KO52_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	50	Mis		"melanoma, MM, AML, thyroid"				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)			55	71					0	0	1	0	0	G	115258745	C	G	115258745	3	3	441	1	0	0	0	0	1	0	0	0	10688	594	21	5	548	5	NRAS	1	115258745	Missense_Mutation	SNP	C	TCGA-S9-A7J0-01A-11D-A34A-08	48874235	115258745	133991876	3	35315											
CD1D	912	broad.mit.edu	37	1	158151456	158151456	+	Silent	SNP	T	T	C			TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chr1:158151456T>C	ENST00000368171.3	+	3	772	c.273T>C	c.(271-273)taT>taC	p.Y91Y		NM_001766.3	NP_001757.1	P15813	CD1D_HUMAN	CD1d molecule	91					antigen processing and presentation, endogenous lipid antigen via MHC class Ib|detection of bacterium|innate immune response|interspecies interaction between organisms|positive regulation of innate immune response|T cell selection	endosome membrane|integral to plasma membrane|lysosomal membrane	beta-2-microglobulin binding|exogenous lipid antigen binding|histone binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(1)|prostate(3)|urinary_tract(2)	30	all_hematologic(112;0.0378)					TTCGGGTTTATCGAAGCAGCT	0.572													33	35					0	0	1	0	0	C	158151456	T	C	158151456	2	2	441	1	0	0	0	0	0	0	0	1	2999	1442	50	3		3	CD1D	1	158151456	Silent	SNP	T	TCGA-S9-A7J0-01A-11D-A34A-08	42892711	158151456	91099165	4	35316											
EDARADD	128178	broad.mit.edu	37	1	236645901	236645901	+	Silent	SNP	C	C	T	rs74942492	by1000genomes	TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chr1:236645901C>T	ENST00000359362.5	+	6	784	c.570C>T	c.(568-570)gaC>gaT	p.D190D	EDARADD_ENST00000334232.4_Silent_p.D200D	NM_080738.3	NP_542776.1	Q8WWZ3	EDAD_HUMAN	EDAR-associated death domain	200	Death.				cell differentiation|signal transduction	cytoplasm				endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|stomach(1)	12	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.0232)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			GGTGGGTGGACGAGGAGTGGC	0.602													51	51					0	0	1	0	0	T	236645901	C	T	236645901	2	4	441	1	0	0	0	0	0	0	0	1	4932	535	19	1		1	EDARADD	1	236645901	Silent	SNP	C	TCGA-S9-A7J0-01A-11D-A34A-08	78494445	236645901	12604720	5	35317											
C2orf71	388939	broad.mit.edu	37	2	29295877	29295877	+	Silent	SNP	A	A	G			TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chr2:29295877A>G	ENST00000331664.5	-	1	1250	c.1251T>C	c.(1249-1251)gcT>gcC	p.A417A		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	417					response to stimulus|visual perception	photoreceptor outer segment				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						TTGCCATAGGAGCCCCTGAGA	0.582													34	59					0	0	1	0	0	G	29295877	A	G	29295877	2	3	441	1	0	0	0	0	0	0	0	1	2205	291	11	3		3	C2orf71	2	29295877	Silent	SNP	A	TCGA-S9-A7J0-01A-11D-A34A-08		29295877	213903496	6	35318											
OTX1	5013	broad.mit.edu	37	2	63283331	63283331	+	Missense_Mutation	SNP	C	C	G			TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chr2:63283331C>G	ENST00000366671.3	+	5	1221	c.945C>G	c.(943-945)gaC>gaG	p.D315E	OTX1_ENST00000282549.2_Missense_Mutation_p.D315E	NM_001199770.1	NP_001186699.1	P32242	OTX1_HUMAN	orthodenticle homeobox 1	315						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.D315E(1)		endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Lung NSC(7;0.121)|all_lung(7;0.211)					ACTCTGCCGACTGCTTGGATT	0.602													20	24					0	0	1	0	0	G	63283331	C	G	63283331	3	3	441	1	0	0	0	0	1	0	0	0	11367	564	20	4	955	4	OTX1	2	63283331	Missense_Mutation	SNP	C	TCGA-S9-A7J0-01A-11D-A34A-08	33987454	63283331	179916042	7	35319											
IDH1	3417	broad.mit.edu	37	2	209113113	209113113	+	Missense_Mutation	SNP	G	G	T	rs121913499		TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	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	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		TAAGCATGACGACCTATGATG	0.398			Mis		gliobastoma								60	46					1.02016e-41	1.09302e-41	1	1	0	T	209113113	G	T	209113113	3	4	441	1	0	0	0	0	1	0	0	0	7538	1058	37	5	878	5	IDH1	2	209113113	Missense_Mutation	SNP	G	TCGA-S9-A7J0-01A-11D-A34A-08	145829782	209113113	34086260	8	35320											
B3GNT7	93010	broad.mit.edu	37	2	232263162	232263162	+	Silent	SNP	C	C	T			TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chr2:232263162C>T	ENST00000287590.5	+	2	993	c.732C>T	c.(730-732)ttC>ttT	p.F244F		NM_145236.2	NP_660279.1	Q8NFL0	B3GN7_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 7	244					protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity			endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(1)	17		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232)		Epithelial(121;3.22e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0139)		ATGACGTCTTCGTCAACCCCA	0.567													5	62					0	0	1	0	0	T	232263162	C	T	232263162	2	4	441	1	0	0	0	0	0	0	0	1	1260	883	31	1		1	B3GNT7	2	232263162	Silent	SNP	C	TCGA-S9-A7J0-01A-11D-A34A-08	23150049	232263162	10936211	9	35321											
IL5RA	3568	broad.mit.edu	37	3	3146598	3146598	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chr3:3146598G>A	ENST00000446632.2	-	3	645	c.71C>T	c.(70-72)cCt>cTt	p.P24L	IL5RA_ENST00000438560.1_Missense_Mutation_p.P24L|IL5RA_ENST00000311981.8_Missense_Mutation_p.P24L|IL5RA_ENST00000430514.2_Missense_Mutation_p.P24L|IL5RA_ENST00000445864.2_Missense_Mutation_p.P24L|IL5RA_ENST00000256452.3_Missense_Mutation_p.P24L|IL5RA_ENST00000456302.1_Missense_Mutation_p.P24L|IL5RA_ENST00000383846.1_Missense_Mutation_p.P24L|IL5RA_ENST00000418488.2_Missense_Mutation_p.P24L	NM_175726.3	NP_783853.1	Q01344	IL5RA_HUMAN	interleukin 5 receptor, alpha	24					cell proliferation	extracellular space|integral to membrane|plasma membrane	interleukin-5 receptor activity			cervix(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	24				Epithelial(13;0.00278)|all cancers(10;0.00809)|OV - Ovarian serous cystadenocarcinoma(96;0.00944)		CTTTTCATCAGGAAGTAAGTC	0.343													29	65					0	0	1	0	0	A	3146598	G	A	3146598	3	1	441	1	0	0	0	0	1	0	0	0	7744	1000	35	2	1257	2	IL5RA	3	3146598	Missense_Mutation	SNP	G	TCGA-S9-A7J0-01A-11D-A34A-08		3146598	194875832	10	35322											
CDCP1	64866	broad.mit.edu	37	3	45127296	45127296	+	Missense_Mutation	SNP	C	C	G			TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chr3:45127296C>G	ENST00000296129.1	-	9	2479	c.2345G>C	c.(2344-2346)aGg>aCg	p.R782T		NM_022842.3	NP_073753.3	Q9H5V8	CDCP1_HUMAN	CUB domain containing protein 1	782						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)		AGTTGGGGCCCTGGAGCATAT	0.622													21	22					0	0	1	0	0	G	45127296	C	G	45127296	3	3	441	1	0	0	0	0	1	0	0	0	3115	681	24	4	169	4	CDCP1	3	45127296	Missense_Mutation	SNP	C	TCGA-S9-A7J0-01A-11D-A34A-08	41980698	45127296	152895134	11	35323											
CAMKV	79012	broad.mit.edu	37	3	49899533	49899533	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chr3:49899533G>A	ENST00000477224.1	-	3	650	c.172C>T	c.(172-174)Cgg>Tgg	p.R58W	CAMKV_ENST00000498324.1_5'UTR|CAMKV_ENST00000467248.1_5'UTR|CAMKV_ENST00000488336.1_Missense_Mutation_p.R58W|CAMKV_ENST00000463537.1_Missense_Mutation_p.R58W|CAMKV_ENST00000296471.7_Missense_Mutation_p.R58W|CAMKV_ENST00000466940.1_Missense_Mutation_p.R58W			Q8NCB2	CAMKV_HUMAN	CaM kinase-like vesicle-associated	58	Protein kinase.					cytoplasmic vesicle membrane|plasma membrane	ATP binding|protein serine/threonine kinase activity			central_nervous_system(1)|large_intestine(2)|lung(2)|ovary(2)	7				BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		CGGCCGTCCCGCTTCTGGAAC	0.592													3	17					0	0	1	0	0	A	49899533	G	A	49899533	3	1	441	1	0	0	0	0	1	0	0	0	2626	1086	38	1	1369	1	CAMKV	3	49899533	Missense_Mutation	SNP	G	TCGA-S9-A7J0-01A-11D-A34A-08	4772237	49899533	148122897	12	35324											
EVC2	132884	broad.mit.edu	37	4	5564756	5564756	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chr4:5564756A>G	ENST00000310917.2	-	22	4237	c.3506T>C	c.(3505-3507)aTt>aCt	p.I1169T	EVC2_ENST00000344408.5_Missense_Mutation_p.I1249T|EVC2_ENST00000344938.1_Intron	NM_001166136.1	NP_001159608.1	Q86UK5	LBN_HUMAN	Ellis van Creveld syndrome 2	1249						integral to membrane				NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						CAGTTCGCCAATGGGCTCCAG	0.448													38	142					0	0	1	0	0	G	5564756	A	G	5564756	3	3	441	1	0	0	0	0	1	0	0	0	5314	101	4	3	184	3	EVC2	4	5564756	Missense_Mutation	SNP	A	TCGA-S9-A7J0-01A-11D-A34A-08		5564756	185589520	13	35325											
LRRC66	339977	broad.mit.edu	37	4	52861983	52861983	+	Missense_Mutation	SNP	T	T	A			TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chr4:52861983T>A	ENST00000343457.3	-	4	1211	c.1205A>T	c.(1204-1206)gAc>gTc	p.D402V		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	402						integral to membrane				central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						CCACAGTCTGTCAACATAAGG	0.562													10	68					0	0	1	0	0	A	52861983	T	A	52861983	3	1	441	1	0	0	0	0	1	0	0	0	9063	1667	58	5	1441	5	LRRC66	4	52861983	Missense_Mutation	SNP	T	TCGA-S9-A7J0-01A-11D-A34A-08	47297227	52861983	138292293	14	35326											
CTNND2	1501	broad.mit.edu	37	5	11411675	11411675	+	Frame_Shift_Del	DEL	C	C	-			TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chr5:11411675delC	ENST00000304623.8	-	5	601	c.412delG	c.(412-414)gacfs	p.D138fs	CTNND2_ENST00000359640.2_Frame_Shift_Del_p.D138fs|CTNND2_ENST00000511377.1_Frame_Shift_Del_p.D47fs|CTNND2_ENST00000503622.1_Frame_Shift_Del_p.D47fs|CTNND2_ENST00000458100.2_5'UTR	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	138					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						TCCTGTGGGTCAAGTATTCCT	0.373													50	53	---	---	---	---						-	11411675	C	-	11411675	7	5	441	1	0	1	0	1	0	0	0	0	4044	826	29	0	3337	0	CTNND2	5	11411675	Frame_Shift_Del	DEL	C	TCGA-S9-A7J0-01A-11D-A34A-08		11411675	169503585	15	35327											
SLC4A9	83697	broad.mit.edu	37	5	139740529	139740529	+	Silent	SNP	C	C	T			TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chr5:139740529C>T	ENST00000230993.6	+	2	470	c.435C>T	c.(433-435)tgC>tgT	p.C145C	SLC4A9_ENST00000506545.1_Silent_p.C121C|SLC4A9_ENST00000506757.2_Silent_p.C121C|SLC4A9_ENST00000432095.2_Silent_p.C121C|SLC4A9_ENST00000507527.1_Silent_p.C145C	NM_001258428.1	NP_001245357.1	Q96Q91	B3A4_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 9	145						integral to membrane|plasma membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity			endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCTGGACTGCCCAGCTCAGA	0.657													7	4					0	0	1	0	0	T	139740529	C	T	139740529	2	4	441	1	0	0	0	0	0	0	0	1	14715	747	26	2		2	SLC4A9	5	139740529	Silent	SNP	C	TCGA-S9-A7J0-01A-11D-A34A-08	128328854	139740529	41174731	16	35328											
PCDHA8	56140	broad.mit.edu	37	5	140222719	140222719	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chr5:140222719G>A	ENST00000531613.1	+	1	1813	c.1813G>A	c.(1813-1815)Gcg>Acg	p.A605T	PCDHA8_ENST00000378123.3_Missense_Mutation_p.A605T|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron	NM_018911.2	NP_061734.1														NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGCTACAACGCGTGGCTTTC	0.677													31	46					0	0	1	0	0	A	140222719	G	A	140222719	3	1	441	1	0	0	0	0	1	0	0	0	11577	1087	38	1	1815	1	PCDHA8	5	140222719	Missense_Mutation	SNP	G	TCGA-S9-A7J0-01A-11D-A34A-08	482190	140222719	40692541	17	35329											
FAT2	2196	broad.mit.edu	37	5	150946625	150946625	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chr5:150946625C>T	ENST00000261800.5	-	1	1880	c.1868G>A	c.(1867-1869)cGc>cAc	p.R623H		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	623	Cadherin 5.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GATAAAAGGGCGTTTGAGGGA	0.403													33	46					0	0	1	0	0	T	150946625	C	T	150946625	3	4	441	1	0	0	0	0	1	0	0	0	5723	768	27	1	11273	1	FAT2	5	150946625	Missense_Mutation	SNP	C	TCGA-S9-A7J0-01A-11D-A34A-08	10723906	150946625	29968635	18	35330											
MGAT1	4245	broad.mit.edu	37	5	180219007	180219007	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chr5:180219007C>T	ENST00000446023.2	-	3	1715	c.965G>A	c.(964-966)gGg>gAg	p.G322E	MGAT1_ENST00000393340.3_Missense_Mutation_p.G322E|MGAT1_ENST00000427865.2_Missense_Mutation_p.G322E|MGAT1_ENST00000333055.3_Missense_Mutation_p.G322E|MGAT1_ENST00000307826.4_Missense_Mutation_p.G322E	NM_001114617.1|NM_001114618.1	NP_001108089.1|NP_001108090.1	P26572	MGAT1_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase	322					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity|metal ion binding			endometrium(1)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	13	all_cancers(89;1.11e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.0027)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00356)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AAAGAACTGCCCGTGGCTCAC	0.602													15	48					0	0	1	0	0	T	180219007	C	T	180219007	3	4	441	1	0	0	0	0	1	0	0	0	9592	623	22	2	376	2	MGAT1	5	180219007	Missense_Mutation	SNP	C	TCGA-S9-A7J0-01A-11D-A34A-08	29272382	180219007	696253	19	35331											
MDC1	9656	broad.mit.edu	37	6	30673766	30673766	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chr6:30673766G>A	ENST00000376406.3	-	10	3841	c.3194C>T	c.(3193-3195)cCc>cTc	p.P1065L	MDC1_ENST00000376405.2_Missense_Mutation_p.P801L|MDC1-AS1_ENST00000442150.1_RNA	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	1065	Pro-rich.			Missing (in Ref. 2; CAH18685).	cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|kidney(1)|ovary(1)	4						AGAAAGAAGGGGCGGAGGTGC	0.547								Other conserved DNA damage response genes					73	97					0	0	1	0	0	A	30673766	G	A	30673766	3	1	441	1	0	0	0	0	1	0	0	0	9453	1232	43	2	3099	2	MDC1	6	30673766	Missense_Mutation	SNP	G	TCGA-S9-A7J0-01A-11D-A34A-08		30673766	140441301	20	35332											
C6orf222	389384	broad.mit.edu	37	6	36297863	36297863	+	Missense_Mutation	SNP	C	C	T	rs140939742	by1000genomes	TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chr6:36297863C>T	ENST00000437635.2	-	2	782	c.605G>A	c.(604-606)cGc>cAc	p.R202H		NM_001010903.4	NP_001010903.3	P0C671	CF222_HUMAN	chromosome 6 open reading frame 222	202										breast(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(4)|urinary_tract(4)	26						CTCACCCCTGCGAGCTGGGCC	0.642													4	91					0	0	1	0	0	T	36297863	C	T	36297863	3	4	441	1	0	0	0	0	1	0	0	0	2370	768	27	1	1397	1	C6orf222	6	36297863	Missense_Mutation	SNP	C	TCGA-S9-A7J0-01A-11D-A34A-08	5624097	36297863	134817204	21	35333											
TAAR2	9287	broad.mit.edu	37	6	132938561	132938561	+	Nonsense_Mutation	SNP	T	T	A			TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chr6:132938561T>A	ENST00000275191.2	-	1	756	c.649A>T	c.(649-651)Aaa>Taa	p.K217*	TAAR2_ENST00000367931.1_Nonsense_Mutation_p.K262*|TAAR2_ENST00000537809.1_Nonsense_Mutation_p.K217*	NM_014626.3	NP_055441.2	Q9P1P5	TAAR2_HUMAN	trace amine associated receptor 2	262						plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(1)	23	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00608)|GBM - Glioblastoma multiforme(226;0.0151)		CCTAAAGTTTTGGCAGCTTTT	0.328													12	63					0	0	1	0	0	A	132938561	T	A	132938561	4	1	441	1	0	0	0	0	0	1	0	0	15547	1821	63	5	275	5	TAAR2	6	132938561	Nonsense_Mutation	SNP	T	TCGA-S9-A7J0-01A-11D-A34A-08	96640698	132938561	38176506	22	35334											
TIAM2	26230	broad.mit.edu	37	6	155458639	155458639	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chr6:155458639G>A	ENST00000461783.3	+	7	2796	c.1523G>A	c.(1522-1524)cGg>cAg	p.R508Q	TIAM2_ENST00000456144.1_Missense_Mutation_p.R508Q|TIAM2_ENST00000318981.5_Missense_Mutation_p.R508Q|TIAM2_ENST00000529824.2_Missense_Mutation_p.R508Q|TIAM2_ENST00000360366.4_Missense_Mutation_p.R508Q|TIAM2_ENST00000367174.2_5'UTR			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	508	PH 1.				apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		GGGGTGGTCCGGAAGGCCGGG	0.542													3	70					0	0	1	0	0	A	155458639	G	A	155458639	3	1	441	1	0	0	0	0	1	0	0	0	15951	1116	39	1	1529	1	TIAM2	6	155458639	Missense_Mutation	SNP	G	TCGA-S9-A7J0-01A-11D-A34A-08	22520078	155458639	15656428	23	35335											
TBP	6908	broad.mit.edu	37	6	170871043	170871043	+	Silent	SNP	G	G	A			TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chr6:170871043G>A	ENST00000392092.2	+	3	498	c.219G>A	c.(217-219)caG>caA	p.Q73Q	TBP_ENST00000230354.6_Silent_p.Q73Q|TBP_ENST00000540980.1_Silent_p.Q53Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	73	Poly-Gln.				cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction	transcription factor TFIIA complex|transcription factor TFIID complex	repressing transcription factor binding|transcription regulatory region DNA binding	p.Q73Q(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		agcagcaacagcaacagcagc	0.562													3	21					0	0	1	0	0	A	170871043	G	A	170871043	2	1	441	1	0	0	0	0	0	0	0	1	15704	962	34	2		2	TBP	6	170871043	Silent	SNP	G	TCGA-S9-A7J0-01A-11D-A34A-08	15412404	170871043	244024	24	35336											
ABCB5	340273	broad.mit.edu	37	7	20685472	20685472	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chr7:20685472G>A	ENST00000404938.2	+	8	1424	c.772G>A	c.(772-774)Gcc>Acc	p.A258T		NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	444	ABC transmembrane type-1.				regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						AACAGTCATAGCCTTTAGGGC	0.408													48	49					0	0	1	0	0	A	20685472	G	A	20685472	3	1	441	1	0	0	0	0	1	0	0	0	44	971	34	2	798	2	ABCB5	7	20685472	Missense_Mutation	SNP	G	TCGA-S9-A7J0-01A-11D-A34A-08		20685472	138453191	25	35337											
CRHR2	1395	broad.mit.edu	37	7	30693147	30693147	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chr7:30693147G>A	ENST00000471646.1	-	12	1582	c.1165C>T	c.(1165-1167)Cgg>Tgg	p.R389W	CRHR2_ENST00000506074.2_3'UTR|CRHR2_ENST00000348438.4_Missense_Mutation_p.R416W|CRHR2_ENST00000341843.4_Missense_Mutation_p.R375W	NM_001202482.1|NM_001202483.1|NM_001883.4	NP_001189411.1|NP_001189412.1|NP_001874.2	Q13324	CRFR2_HUMAN	corticotropin releasing hormone receptor 2	389					G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	corticotrophin-releasing factor receptor activity|protein binding	p.R375R(1)|p.R389R(1)		breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						GACATGGCCCGGGCCATGGGG	0.657													15	103					0	0	1	0	0	A	30693147	G	A	30693147	3	1	441	1	0	0	0	0	1	0	0	0	3895	1115	39	1	74	1	CRHR2	7	30693147	Missense_Mutation	SNP	G	TCGA-S9-A7J0-01A-11D-A34A-08	10007675	30693147	128445516	26	35338											
AUTS2	26053	broad.mit.edu	37	7	69364317	69364317	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chr7:69364317A>G	ENST00000342771.4	+	2	676	c.355A>G	c.(355-357)Acg>Gcg	p.T119A	AUTS2_ENST00000403018.2_Missense_Mutation_p.T119A|AUTS2_ENST00000406775.2_Missense_Mutation_p.T119A	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	119										breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		GAAACGCCAGACGCCCCTGAC	0.483													30	27					0	0	1	0	0	G	69364317	A	G	69364317	3	3	441	1	0	0	0	0	1	0	0	0	1223	275	10	3	361	3	AUTS2	7	69364317	Missense_Mutation	SNP	A	TCGA-S9-A7J0-01A-11D-A34A-08	38671170	69364317	89774346	27	35339											
CYP51A1	1595	broad.mit.edu	37	7	91747893	91747893	+	Nonsense_Mutation	SNP	C	C	A			TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chr7:91747893C>A	ENST00000003100.8	-	8	1288	c.1123G>T	c.(1123-1125)Gaa>Taa	p.E375*	LRRD1_ENST00000422722.1_5'UTR|CYP51A1_ENST00000450723.1_Nonsense_Mutation_p.E270*	NM_000786.3	NP_000777.1	Q16850	CP51A_HUMAN	cytochrome P450, family 51, subfamily A, polypeptide 1	369					cholesterol biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|sterol 14-demethylase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|skin(1)	10	all_cancers(62;2.16e-09)|all_epithelial(64;3.86e-08)|Breast(17;0.00206)|all_lung(186;0.169)|all_hematologic(106;0.215)|Lung NSC(181;0.227)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		Fluconazole(DB00196)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Miconazole(DB01110)|Terconazole(DB00251)	CTTAATGTTTCTTTTATACAG	0.353													45	56					2.81731e-22	2.97603e-22	1	1	0	A	91747893	C	A	91747893	4	1	441	1	0	0	0	0	0	1	0	0	4218	922	32	4	418	4	CYP51A1	7	91747893	Nonsense_Mutation	SNP	C	TCGA-S9-A7J0-01A-11D-A34A-08	22383576	91747893	67390770	28	35340											
SLC26A4	5172	broad.mit.edu	37	7	107312617	107312617	+	Silent	SNP	C	C	T			TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chr7:107312617C>T	ENST00000265715.3	+	4	563	c.339C>T	c.(337-339)gtC>gtT	p.V113V		NM_000441.1	NP_000432.1	O43511	S26A4_HUMAN	solute carrier family 26 (anion exchanger), member 4	113					regulation of pH|regulation of protein localization|sensory perception of sound	apical plasma membrane|integral to membrane	chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity			central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						CAGTTCCTGTCGGATATGGTC	0.378									Pendred syndrome				97	67					0	0	1	0	0	T	107312617	C	T	107312617	2	4	441	1	0	0	0	0	0	0	0	1	14574	871	31	1		1	SLC26A4	7	107312617	Silent	SNP	C	TCGA-S9-A7J0-01A-11D-A34A-08	15564724	107312617	51826046	29	35341											
CDH17	1015	broad.mit.edu	37	8	95188826	95188826	+	Nonsense_Mutation	SNP	G	G	A			TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chr8:95188826G>A	ENST00000027335.3	-	5	491	c.367C>T	c.(367-369)Cga>Tga	p.R123*	CDH17_ENST00000441892.2_Nonsense_Mutation_p.R123*|CDH17_ENST00000450165.2_Nonsense_Mutation_p.R123*	NM_004063.3	NP_004054.3	Q12864	CAD17_HUMAN	cadherin 17, LI cadherin (liver-intestine)	123	Cadherin 1.					integral to membrane	calcium ion binding	p.R123*(1)		NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			AACGTGGGTCGATTGTCGTTG	0.493													34	54					0	0	1	0	0	A	95188826	G	A	95188826	4	1	441	1	0	0	0	0	0	1	0	0	3124	1066	37	1	2187	1	CDH17	8	95188826	Nonsense_Mutation	SNP	G	TCGA-S9-A7J0-01A-11D-A34A-08		95188826	51175196	30	35342											
GLIS3	169792	broad.mit.edu	37	9	4118146	4118146	+	Silent	SNP	G	G	T			TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chr9:4118146G>T	ENST00000324333.10	-	3	1060	c.867C>A	c.(865-867)ccC>ccA	p.P289P	GLIS3_ENST00000381971.3_Silent_p.P444P	NM_152629.3	NP_689842.3	Q8NEA6	GLIS3_HUMAN	GLIS family zinc finger 3	289	Pro-rich.				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)		gaggcgcggggggTAGGTCTA	0.736													9	0					2.17888e-05	2.23857e-05	1	1	0	T	4118146	G	T	4118146	2	4	441	1	0	0	0	0	0	0	0	1	6489	1219	43	5		5	GLIS3	9	4118146	Silent	SNP	G	TCGA-S9-A7J0-01A-11D-A34A-08		4118146	137095285	31	35343											
RECK	8434	broad.mit.edu	37	9	36091312	36091315	+	Frame_Shift_Del	DEL	CTTA	CTTA	-			TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chr9:36091312_36091315delCTTA	ENST00000377966.3	+	10	1623_1626	c.1057_1060delCTTA	c.(1057-1062)cttactfs	p.LT353fs		NM_021111.2	NP_066934.1	O95980	RECK_HUMAN	reversion-inducing-cysteine-rich protein with kazal motifs	353						anchored to membrane|peripheral to membrane of membrane fraction|plasma membrane	metalloendopeptidase inhibitor activity|serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228)			CTGTAGAAACCTTACTTACTGTAC	0.343													54	76	---	---	---	---						-	36091315	CTTA	-	36091312	7	5	441	1	0	1	0	1	0	0	0	0	13252	681	24	0	1095	0	RECK	9	36091312	Frame_Shift_Del	DEL	CTTA	TCGA-S9-A7J0-01A-11D-A34A-08	31973166	36091312	105122119	32	35344											
USP54	159195	broad.mit.edu	37	10	75294484	75294484	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chr10:75294484T>C	ENST00000339859.4	-	11	1289	c.1189A>G	c.(1189-1191)Acg>Gcg	p.T397A	USP54_ENST00000428547.1_Missense_Mutation_p.T247A|USP54_ENST00000394811.2_5'UTR|USP54_ENST00000497106.1_Intron|USP54_ENST00000408019.1_Missense_Mutation_p.T397A|USP54_ENST00000319786.7_Missense_Mutation_p.T397A			Q70EL1	UBP54_HUMAN	ubiquitin specific peptidase 54	397					ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity			breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	30	Prostate(51;0.0112)					TAGCTCTCCGTTGAGGAATCT	0.463													15	41					0	0	1	0	0	C	75294484	T	C	75294484	3	2	441	1	0	0	0	0	1	0	0	0	17145	1725	60	3	3917	3	USP54	10	75294484	Missense_Mutation	SNP	T	TCGA-S9-A7J0-01A-11D-A34A-08		75294484	60240263	33	35345											
SYCE1	93426	broad.mit.edu	37	10	135369378	135369378	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chr10:135369378C>T	ENST00000368517.3	-	10	655	c.517G>A	c.(517-519)Gtg>Atg	p.V173M	SYCE1_ENST00000432597.2_Missense_Mutation_p.V173M|SYCE1_ENST00000343131.5_Missense_Mutation_p.V209M|SPRN_ENST00000541506.1_Intron	NM_130784.2	NP_570140.1	Q8N0S2	SYCE1_HUMAN	synaptonemal complex central element protein 1	209					cell division	central element				breast(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|stomach(3)|urinary_tract(1)	19		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)		TGATGCTTCACGTCTTCCAGT	0.597													8	11					0	0	1	0	0	T	135369378	C	T	135369378	3	4	441	1	0	0	0	0	1	0	0	0	15484	536	19	1	489	1	SYCE1	10	135369378	Missense_Mutation	SNP	C	TCGA-S9-A7J0-01A-11D-A34A-08	60074894	135369378	165369	34	35346											
MICAL2	9645	broad.mit.edu	37	11	12231056	12231056	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chr11:12231056G>A	ENST00000256194.4	+	6	890	c.602G>A	c.(601-603)cGg>cAg	p.R201Q	MICAL2_ENST00000379612.3_Missense_Mutation_p.R201Q|MICAL2_ENST00000537344.1_Missense_Mutation_p.R201Q|MICAL2_ENST00000527546.1_Missense_Mutation_p.R201Q|MICAL2_ENST00000342902.5_Missense_Mutation_p.R201Q	NM_001282663.1|NM_014632.2	NP_001269592.1|NP_055447.1	O94851	MICA2_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 2	201						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		ATTGGCTGGCGGGCAGAATTT	0.507													38	15					0	0	1	0	0	A	12231056	G	A	12231056	3	1	441	1	0	0	0	0	1	0	0	0	9618	1116	39	1	616	1	MICAL2	11	12231056	Missense_Mutation	SNP	G	TCGA-S9-A7J0-01A-11D-A34A-08		12231056	122775460	35	35347											
MRGPRX1	259249	broad.mit.edu	37	11	18956124	18956124	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chr11:18956124C>T	ENST00000302797.3	-	1	432	c.208G>A	c.(208-210)Gca>Aca	p.A70T	MRGPRX1_ENST00000526914.1_5'UTR	NM_147199.3	NP_671732.3	Q96LB2	MRGX1_HUMAN	MAS-related GPR, member X1	70					acute-phase response	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						AAGTCTGCTGCGGCCAAGTTG	0.532													50	106					0	0	1	0	0	T	18956124	C	T	18956124	3	4	441	1	0	0	0	0	1	0	0	0	9815	768	27	1	764	1	MRGPRX1	11	18956124	Missense_Mutation	SNP	C	TCGA-S9-A7J0-01A-11D-A34A-08	6725068	18956124	116050392	36	35348											
PANX3	116337	broad.mit.edu	37	11	124489721	124489721	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chr11:124489721A>G	ENST00000284288.2	+	4	1136	c.1069A>G	c.(1069-1071)Acc>Gcc	p.T357A		NM_052959.2	NP_443191.1	Q96QZ0	PANX3_HUMAN	pannexin 3	357					protein hexamerization	gap junction|integral to membrane	gap junction hemi-channel activity|ion channel activity			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|urinary_tract(1)	26	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0219)		GGATACAACCACCCAGAAGCA	0.433													46	65					0	0	1	0	0	G	124489721	A	G	124489721	3	3	441	1	0	0	0	0	1	0	0	0	11469	159	6	3	1083	3	PANX3	11	124489721	Missense_Mutation	SNP	A	TCGA-S9-A7J0-01A-11D-A34A-08	105533597	124489721	10516795	37	35349											
EP400	57634	broad.mit.edu	37	12	132551995	132551995	+	Silent	SNP	C	C	T			TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chr12:132551995C>T	ENST00000333577.4	+	51	9055	c.8946C>T	c.(8944-8946)ccC>ccT	p.P2982P	EP400_ENST00000389561.2_Silent_p.P2946P|EP400_ENST00000389562.2_Silent_p.P2945P|EP400_ENST00000332482.4_Silent_p.P2909P|EP400_ENST00000330386.6_Silent_p.P2865P			Q96L91	EP400_HUMAN	E1A binding protein p400	2982					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		CCATCCAGCCCCAGGCTGCAC	0.652													7	57					0	0	1	0	0	T	132551995	C	T	132551995	2	4	441	1	0	0	0	0	0	0	0	1	5177	610	22	2		2	EP400	12	132551995	Silent	SNP	C	TCGA-S9-A7J0-01A-11D-A34A-08		132551995	1299900	38	35350											
MYH6	4624	broad.mit.edu	37	14	23857416	23857416	+	Missense_Mutation	SNP	C	C	T	rs142556730		TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chr14:23857416C>T	ENST00000405093.3	-	30	4377	c.4307G>A	c.(4306-4308)cGc>cAc	p.R1436H	MYH6_ENST00000356287.3_Missense_Mutation_p.R1436H	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	1436					adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		AGCATTGGAGCGCTCTACGTC	0.587													20	92					0	0	1	0	0	T	23857416	C	T	23857416	3	4	441	1	0	0	0	0	1	0	0	0	10086	768	27	1	1552	1	MYH6	14	23857416	Missense_Mutation	SNP	C	TCGA-S9-A7J0-01A-11D-A34A-08		23857416	83492124	39	35351											
FAM103A1	83640	broad.mit.edu	37	15	83657865	83657865	+	Missense_Mutation	SNP	G	G	A	rs150238339		TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chr15:83657865G>A	ENST00000304191.3	+	3	316	c.95G>A	c.(94-96)cGc>cAc	p.R32H	RP11-382A20.5_ENST00000566841.1_RNA|C15orf40_ENST00000538348.2_Silent_p.G137G	NM_031452.3	NP_113640.1	Q9BTL3	F103A_HUMAN	family with sequence similarity 103, member A1	32										prostate(1)	1						TACCTGAAACGCCCTCCTGAG	0.428													35	25					0	0	1	0	0	A	83657865	G	A	83657865	3	1	441	1	0	0	0	0	1	0	0	0	5415	1087	38	1	97	1	FAM103A1	15	83657865	Missense_Mutation	SNP	G	TCGA-S9-A7J0-01A-11D-A34A-08		83657865	18873527	40	35352											
CHD2	1106	broad.mit.edu	37	15	93522490	93522490	+	Silent	SNP	G	G	A			TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chr15:93522490G>A	ENST00000394196.4	+	22	3921	c.2853G>A	c.(2851-2853)ctG>ctA	p.L951L	CHD2_ENST00000557381.1_Silent_p.L951L	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	951					regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			GGACGATCCTGGAAAACAACT	0.458													4	121					0	0	1	0	0	A	93522490	G	A	93522490	2	1	441	1	0	0	0	0	0	0	0	1	3347	1335	47	2		2	CHD2	15	93522490	Silent	SNP	G	TCGA-S9-A7J0-01A-11D-A34A-08	9864625	93522490	9008902	41	35353											
TP53	7157	broad.mit.edu	37	17	7578413	7578413	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chr17:7578413C>T	ENST00000420246.2	-	5	649	c.517G>A	c.(517-519)Gtg>Atg	p.V173M	TP53_ENST00000269305.4_Missense_Mutation_p.V173M|TP53_ENST00000455263.2_Missense_Mutation_p.V173M|TP53_ENST00000413465.2_Missense_Mutation_p.V173M|TP53_ENST00000359597.4_Missense_Mutation_p.V173M|TP53_ENST00000445888.2_Missense_Mutation_p.V173M|TP53_ENST00000574684.1_5'UTR	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	173	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		V -> A (in sporadic cancers; somatic mutation).|V -> E (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).|V -> M (in LFS; germline mutation and in sporadic cancers; somatic mutation).|V -> W (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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.V173L(68)|p.V173M(46)|p.0?(8)|p.V80L(6)|p.V41L(6)|p.V173fs*1(4)|p.V80M(3)|p.V41M(3)|p.V173fs*59(2)|p.V157_C176del20(1)|p.V172_R174delVVR(1)|p.V173fs*69(1)|p.P151_V173del23(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.E171fs*1(1)|p.V173W(1)|p.V173fs*8(1)|p.H168fs*69(1)|p.E171_H179delEVVRRCPHH(1)|p.S149fs*72(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)		CAGCGCCTCACAACCTCCGTC	0.662		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)			67	6					0	0	1	0	0	T	7578413	C	T	7578413	3	4	441	1	0	0	0	0	1	0	0	0	16442	478	17	2	781	2	TP53	17	7578413	Missense_Mutation	SNP	C	TCGA-S9-A7J0-01A-11D-A34A-08		7578413	73616797	42	35354											
CCDC144A	9720	broad.mit.edu	37	17	16610781	16610781	+	Splice_Site	SNP	A	A	G			TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chr17:16610781A>G	ENST00000443444.2	+	4	804		c.e4-1		CCDC144A_ENST00000436374.1_Splice_Site|CCDC144A_ENST00000456009.1_Splice_Site|CCDC144A_ENST00000399273.1_Splice_Site|CCDC144A_ENST00000360524.8_Splice_Site|RP11-219A15.1_ENST00000448331.3_Splice_Site|CCDC144A_ENST00000340621.5_Intron			A2RUR9	C144A_HUMAN	coiled-coil domain containing 144A																		TGGATTTTGCAGCAGAACAAG	0.313													17	15					0	0	1	0	0	G	16610781	A	G	16610781	5	3	441	1	0	0	0	0	0	0	1	0	2795	202	7	3	677	3	CCDC144A	17	16610781	Splice_Site	SNP	A	TCGA-S9-A7J0-01A-11D-A34A-08	9032368	16610781	64584429	43	35355											
FKBP10	60681	broad.mit.edu	37	17	39969425	39969425	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chr17:39969425G>A	ENST00000321562.4	+	1	243	c.139G>A	c.(139-141)Gag>Aag	p.E47K		NM_021939.3	NP_068758.3	Q96AY3	FKB10_HUMAN	FK506 binding protein 10, 65 kDa	47					protein folding	endoplasmic reticulum lumen|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity			cervix(1)|endometrium(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Breast(137;0.00122)		BRCA - Breast invasive adenocarcinoma(366;0.148)		TGTGGTCATCGAGAGGTACCA	0.642													48	52					0	0	1	0	0	A	39969425	G	A	39969425	3	1	441	1	0	0	0	0	1	0	0	0	5935	1059	37	1	141	1	FKBP10	17	39969425	Missense_Mutation	SNP	G	TCGA-S9-A7J0-01A-11D-A34A-08	23358644	39969425	41225785	44	35356											
CACNA1G	8913	broad.mit.edu	37	17	48703992	48703992	+	Silent	SNP	C	C	T			TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chr17:48703992C>T	ENST00000352832.5	+	34	7005	c.6633C>T	c.(6631-6633)agC>agT	p.S2211S	CACNA1G_ENST00000510366.1_Silent_p.S2193S|CACNA1G_ENST00000514079.1_Silent_p.S2252S|CACNA1G_ENST00000429973.2_Silent_p.S2227S|CACNA1G_ENST00000507510.2_Silent_p.S2293S|CACNA1G_ENST00000442258.2_Silent_p.S2204S|CACNA1G_ENST00000507609.1_Silent_p.S2238S|CACNA1G_ENST00000513689.2_Silent_p.S2248S|CACNA1G_ENST00000515165.1_Silent_p.S2245S|CACNA1G_ENST00000358244.5_Silent_p.S2132S|CACNA1G_ENST00000507336.1_Silent_p.S2327S|CACNA1G_ENST00000510115.1_Silent_p.S2259S|CACNA1G_ENST00000515765.1_Silent_p.S2282S|CACNA1G_ENST00000360761.4_Silent_p.S2222S|CACNA1G_ENST00000505165.1_Silent_p.S2166S|CACNA1G_ENST00000507896.1_Silent_p.S2155S|CACNA1G_ENST00000514181.1_Silent_p.S2220S|CACNA1G_ENST00000514717.1_Silent_p.S2188S|CACNA1G_ENST00000512389.1_Silent_p.S2234S|CACNA1G_ENST00000354983.4_Silent_p.S2304S|CACNA1G_ENST00000515411.1_Silent_p.S2275S|CACNA1G_ENST00000359106.5_Silent_p.S2338S|CACNA1G_ENST00000502264.1_Silent_p.S2267S|CACNA1G_ENST00000513964.1_Silent_p.S2200S|CACNA1G_ENST00000503485.1_Silent_p.S2211S	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	2338					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity	p.S2338R(2)|p.S2304R(1)		breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	CTCCGTCCAGCGACTCCAAGG	0.637											OREG0024569	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	25					0	0	1	0	0	T	48703992	C	T	48703992	2	4	441	1	0	0	0	0	0	0	0	1	2562	767	27	1		1	CACNA1G	17	48703992	Silent	SNP	C	TCGA-S9-A7J0-01A-11D-A34A-08	8734567	48703992	32491218	45	35357											
KIF2B	84643	broad.mit.edu	37	17	51900882	51900882	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chr17:51900882G>A	ENST00000268919.4	+	1	644	c.488G>A	c.(487-489)cGc>cAc	p.R163H		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	163					blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						CGGGAAAAGCGCAGGCGGCTG	0.547													22	59					0	0	1	0	0	A	51900882	G	A	51900882	3	1	441	1	0	0	0	0	1	0	0	0	8340	1087	38	1	490	1	KIF2B	17	51900882	Missense_Mutation	SNP	G	TCGA-S9-A7J0-01A-11D-A34A-08	3196890	51900882	29294328	46	35358											
MUC16	94025	broad.mit.edu	37	19	8973984	8973984	+	Silent	SNP	G	G	A			TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chr19:8973984G>A	ENST00000397910.4	-	76	42890	c.42687C>T	c.(42685-42687)gaC>gaT	p.D14229D	MUC16_ENST00000380951.5_Silent_p.D870D	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	14292				Missing (in Ref. 3; AAK74120).	cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGTCCTGGATGTCCCTCAGCA	0.498													3	6					0	0	1	0	0	A	8973984	G	A	8973984	2	1	441	1	0	0	0	0	0	0	0	1	10021	1368	48	2		2	MUC16	19	8973984	Silent	SNP	G	TCGA-S9-A7J0-01A-11D-A34A-08		8973984	50154999	47	35359											
ZNF799	90576	broad.mit.edu	37	19	12501697	12501697	+	Missense_Mutation	SNP	C	C	A			TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chr19:12501697C>A	ENST00000419318.1	-	4	2168	c.1419G>T	c.(1417-1419)gaG>gaT	p.E473D	CTD-3105H18.14_ENST00000435033.1_Intron|ZNF799_ENST00000430385.3_Missense_Mutation_p.E505D			Q96GE5	ZN799_HUMAN	zinc finger protein 799	505					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2)	19						ATGTGTTACACTCATAAGGTT	0.393													4	121					0.150653	0.152689	1	1	0	A	12501697	C	A	12501697	3	1	441	1	0	0	0	0	1	0	0	0	18215	564	20	4	420	4	ZNF799	19	12501697	Missense_Mutation	SNP	C	TCGA-S9-A7J0-01A-11D-A34A-08	3527713	12501697	46627286	48	35360											
PRX	57716	broad.mit.edu	37	19	40902215	40902215	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chr19:40902215C>T	ENST00000324001.7	-	7	2314	c.2044G>A	c.(2044-2046)Gag>Aag	p.E682K	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	682	55 X 5 AA approximate tandem repeats of [LVMAG]-[PSREQC]-[EDKL]-[LIVMAP]- [AQKHRPE]; that may have a tripeptide spacer of [LV]-P-[KER].				axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			AGCTGCACCTCGGGGAGTCGA	0.582													59	130					0	0	1	0	0	T	40902215	C	T	40902215	3	4	441	1	0	0	0	0	1	0	0	0	12691	893	31	1	2345	1	PRX	19	40902215	Missense_Mutation	SNP	C	TCGA-S9-A7J0-01A-11D-A34A-08	28400518	40902215	18226768	49	35361											
SLC8A2	6543	broad.mit.edu	37	19	47944425	47944425	+	Splice_Site	SNP	C	C	T			TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chr19:47944425C>T	ENST00000236877.6	-	6	2281		c.e6+1		SLC8A2_ENST00000539381.1_Splice_Site|SLC8A2_ENST00000601757.1_Splice_Site|SLC8A2_ENST00000542837.1_Splice_Site	NM_015063.2	NP_055878.1	Q9UPR5	NAC2_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 2						cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1)	31		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)		ACTTCACTCACCTTGATTGAG	0.577													18	61					0	0	1	0	0	T	47944425	C	T	47944425	5	4	441	1	0	0	0	0	0	0	1	0	14762	521	18	2	899	2	SLC8A2	19	47944425	Splice_Site	SNP	C	TCGA-S9-A7J0-01A-11D-A34A-08	7042210	47944425	11184558	50	35362											
PARD6B	84612	broad.mit.edu	37	20	49366587	49366587	+	Silent	SNP	C	C	T			TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chr20:49366587C>T	ENST00000371610.2	+	3	924	c.681C>T	c.(679-681)agC>agT	p.S227S	PARD6B_ENST00000396039.1_Intron	NM_032521.2	NP_115910.1	Q9BYG5	PAR6B_HUMAN	par-6 family cell polarity regulator beta	227	Interaction with PARD3 and CDC42 (By similarity).|PDZ.				axonogenesis|cell cycle|cell division|establishment or maintenance of cell polarity|protein complex assembly|regulation of cell migration|tight junction assembly	cytosol|tight junction	protein binding			NS(1)|breast(1)|endometrium(1)|kidney(4)|lung(3)|urinary_tract(1)	11						CAGGGAAGAGCCTTGATCAAG	0.428													45	63					0	0	1	0	0	T	49366587	C	T	49366587	2	4	441	1	0	0	0	0	0	0	0	1	11493	738	26	2		2	PARD6B	20	49366587	Silent	SNP	C	TCGA-S9-A7J0-01A-11D-A34A-08		49366587	13658933	51	35363											
PTK6	5753	broad.mit.edu	37	20	62164937	62164937	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chr20:62164937G>A	ENST00000217185.2	-	4	664	c.637C>T	c.(637-639)Cgg>Tgg	p.R213W	PTK6_ENST00000542869.1_Missense_Mutation_p.R112W	NM_005975.3	NP_005966.1	Q13882	PTK6_HUMAN	protein tyrosine kinase 6	213	Protein kinase.					cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			endometrium(3)|kidney(1)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	15	all_cancers(38;2.51e-11)		Epithelial(9;1.5e-08)|all cancers(9;8.67e-08)|BRCA - Breast invasive adenocarcinoma(10;6.43e-06)			ACCTGGACCCGGTCTTTCCAG	0.657													14	68					0	0	1	0	0	A	62164937	G	A	62164937	3	1	441	1	0	0	0	0	1	0	0	0	12814	1115	39	1	738	1	PTK6	20	62164937	Missense_Mutation	SNP	G	TCGA-S9-A7J0-01A-11D-A34A-08	12798350	62164937	860583	52	35364											
ARHGAP6	395	broad.mit.edu	37	X	11157235	11157235	+	Silent	SNP	C	C	T			TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chrX:11157235C>T	ENST00000337414.4	-	13	3545	c.2673G>A	c.(2671-2673)gcG>gcA	p.A891A	ARHGAP6_ENST00000380736.1_Silent_p.A688A|ARHGAP6_ENST00000303025.6_Silent_p.A688A|ARHGAP6_ENST00000534860.1_Intron	NM_013427.2	NP_038286.2	O43182	RHG06_HUMAN	Rho GTPase activating protein 6	891					actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly|Rho protein signal transduction	actin filament|cytosol	phospholipase activator activity|phospholipase binding|Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						CTGCCGCTGCCGCGGGCTTCC	0.701													6	11					0	0	1	0	0	T	11157235	C	T	11157235	2	4	441	1	0	0	0	0	0	0	0	1	884	639	23	1		1	ARHGAP6	23	11157235	Silent	SNP	C	TCGA-S9-A7J0-01A-11D-A34A-08		11157235	144113325	53	35365											
AR	367	broad.mit.edu	37	X	66765161	66765161	+	Missense_Mutation	SNP	A	A	T	rs71905623		TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chrX:66765161A>T	ENST00000374690.3	+	1	697	c.173A>T	c.(172-174)cAg>cTg	p.Q58L	AR_ENST00000396044.3_Missense_Mutation_p.Q58L|AR_ENST00000504326.1_Missense_Mutation_p.Q58L|AR_ENST00000513847.1_3'UTR	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN	androgen receptor	58	Gln-rich.|Modulating.|Poly-Gln.				cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport	cytoplasm|nuclear chromatin|nucleoplasm	androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding	p.Q58L(2)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624)	CTGCTGCTgcagcagcagcag	0.667									Androgen Insensitivity Syndrome				3	34					0	0	1	0	0	T	66765161	A	T	66765161	3	4	441	1	0	0	0	0	1	0	0	0	833	188	7	5	175	5	AR	23	66765161	Missense_Mutation	SNP	A	TCGA-S9-A7J0-01A-11D-A34A-08	55607926	66765161	88505399	54	35366											
RPS6KA6	27330	broad.mit.edu	37	X	83352828	83352828	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chrX:83352828G>A	ENST00000262752.2	-	19	1812	c.1805C>T	c.(1804-1806)gCt>gTt	p.A602V	RPS6KA6_ENST00000495332.1_5'UTR|RPS6KA6_ENST00000543399.1_Missense_Mutation_p.A602V	NM_014496.4	NP_055311.1	Q9UK32	KS6A6_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 6	602	Protein kinase 2.				axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						GATATCACAAGCAGCATCATA	0.318													6	172					0	0	1	0	0	A	83352828	G	A	83352828	3	1	441	1	0	0	0	0	1	0	0	0	13707	971	34	2	448	2	RPS6KA6	23	83352828	Missense_Mutation	SNP	G	TCGA-S9-A7J0-01A-11D-A34A-08	16587667	83352828	71917732	55	35367											
FUBP1	8880	broad.mit.edu	37	1	78428470	78428471	+	Frame_Shift_Del	DEL	TA	TA	-			TCGA-S9-A7J1-01A-21D-A34J-08	TCGA-S9-A7J1-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62d732f2-263a-4721-966c-18984791f8f2	789b7dd2-8169-4519-839d-8f7b66213675	g.chr1:78428470_78428471delTA	ENST00000370767.1	-	14	1415_1416	c.1328_1329delTA	c.(1327-1329)atafs	p.I443fs	FUBP1_ENST00000436586.2_Frame_Shift_Del_p.I464fs|FUBP1_ENST00000370768.2_Frame_Shift_Del_p.I443fs			Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1	443	KH 4.				transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						TCTTTTCTTCTATGAGTTGCCG	0.337			"F, N"		oligodendroglioma								37	35	---	---	---	---						-	78428471	TA	-	78428470	7	5	442	1	0	1	0	1	0	0	0	0	6127	1512	53	0	633	0	FUBP1	1	78428470	Frame_Shift_Del	DEL	TA	TCGA-S9-A7J1-01A-21D-A34J-08		78428470	170822151	1	35368											
EFNA3	1944	broad.mit.edu	37	1	155058898	155058898	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A7J1-01A-21D-A34J-08	TCGA-S9-A7J1-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62d732f2-263a-4721-966c-18984791f8f2	789b7dd2-8169-4519-839d-8f7b66213675	g.chr1:155058898A>G	ENST00000368408.3	+	5	666	c.596A>G	c.(595-597)gAg>gGg	p.E199G	EFNA3_ENST00000556931.1_Missense_Mutation_p.E194G|EFNA3_ENST00000498667.1_3'UTR|EFNA3_ENST00000418360.2_Missense_Mutation_p.E173G|EFNA3_ENST00000505139.1_Missense_Mutation_p.E194G	NM_004952.4	NP_004943.1	P52797	EFNA3_HUMAN	ephrin-A3	199					cell-cell signaling	anchored to membrane|integral to plasma membrane	ephrin receptor binding|transmembrane-ephrin receptor activity			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(2)	5	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		all cancers(21;5.67e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000284)|LUSC - Lung squamous cell carcinoma(543;0.193)			GAAGACTTTGAGGGAGAGAAC	0.637											OREG0013850	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	19	38					0	0	1	0	0	G	155058898	A	G	155058898	3	3	442	1	0	0	0	0	1	0	0	0	4978	304	11	3	614	3	EFNA3	1	155058898	Missense_Mutation	SNP	A	TCGA-S9-A7J1-01A-21D-A34J-08	76630428	155058898	94191723	2	35369											
UAP1	6675	broad.mit.edu	37	1	162560139	162560139	+	Missense_Mutation	SNP	G	G	A	rs146235126		TCGA-S9-A7J1-01A-21D-A34J-08	TCGA-S9-A7J1-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62d732f2-263a-4721-966c-18984791f8f2	789b7dd2-8169-4519-839d-8f7b66213675	g.chr1:162560139G>A	ENST00000271469.3	+	8	1498	c.1196G>A	c.(1195-1197)cGa>cAa	p.R399Q	UAP1_ENST00000367924.1_Missense_Mutation_p.R399Q|UAP1_ENST00000367925.1_Missense_Mutation_p.R399Q|UAP1_ENST00000367926.4_Missense_Mutation_p.R399Q			Q16222	UAP1_HUMAN	UDP-N-acteylglucosamine pyrophosphorylase 1	399					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol|nucleus|plasma membrane	UDP-N-acetylglucosamine diphosphorylase activity			breast(2)|cervix(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(2)|skin(2)|stomach(1)	22	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.126)			GAAGTATTGCGAGAAGATGAG	0.398													8	128					0	0	1	0	0	A	162560139	G	A	162560139	3	1	442	1	0	0	0	0	1	0	0	0	16886	1058	37	1	1222	1	UAP1	1	162560139	Missense_Mutation	SNP	G	TCGA-S9-A7J1-01A-21D-A34J-08	7501241	162560139	86690482	3	35370											
PBX1	5087	broad.mit.edu	37	1	164532483	164532483	+	Missense_Mutation	SNP	C	C	A			TCGA-S9-A7J1-01A-21D-A34J-08	TCGA-S9-A7J1-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62d732f2-263a-4721-966c-18984791f8f2	789b7dd2-8169-4519-839d-8f7b66213675	g.chr1:164532483C>A	ENST00000420696.2	+	2	388	c.200C>A	c.(199-201)gCt>gAt	p.A67D	PBX1_ENST00000559240.1_Missense_Mutation_p.A67D|PBX1_ENST00000401534.1_Missense_Mutation_p.A67D|PBX1_ENST00000367897.1_Missense_Mutation_p.A67D|PBX1_ENST00000540236.1_Missense_Mutation_p.A67D	NM_001204961.1|NM_001204963.1|NM_002585.3	NP_001191890.1|NP_001191892.1|NP_002576.1	P40424	PBX1_HUMAN	pre-B-cell leukemia homeobox 1	67					negative regulation of sequence-specific DNA binding transcription factor activity|sex differentiation|steroid biosynthetic process	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription factor binding		EWSR1/PBX1(3)	large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	4						AGAAAACATGCTTTAAACTGC	0.363			T	"TCF3, EWSR1"	"pre B-ALL, myoepithelioma"								4	229					1	1	1	1	0	A	164532483	C	A	164532483	3	1	442	1	0	0	0	0	1	0	0	0	11539	797	28	4	206	4	PBX1	1	164532483	Missense_Mutation	SNP	C	TCGA-S9-A7J1-01A-21D-A34J-08	1972344	164532483	84718138	4	35371											
GREB1	9687	broad.mit.edu	37	2	11778832	11778833	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-S9-A7J1-01A-21D-A34J-08	TCGA-S9-A7J1-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62d732f2-263a-4721-966c-18984791f8f2	789b7dd2-8169-4519-839d-8f7b66213675	g.chr2:11778832_11778833delTT	ENST00000381486.2	+	32	5883_5884	c.5583_5584delTT	c.(5581-5586)tctttafs	p.L1862fs	GREB1_ENST00000396123.1_Frame_Shift_Del_p.L860fs|GREB1_ENST00000234142.5_Frame_Shift_Del_p.L1862fs	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	1862						integral to membrane				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		GGCCCCACTCTTTAAACATCAG	0.426													16	72	---	---	---	---						-	11778833	TT	-	11778832	7	5	442	1	0	1	0	1	0	0	0	0	6801	1596	56	0	5813	0	GREB1	2	11778832	Frame_Shift_Del	DEL	TT	TCGA-S9-A7J1-01A-21D-A34J-08		11778832	231420541	5	35372											
ASXL2	55252	broad.mit.edu	37	2	25973090	25973094	+	Frame_Shift_Del	DEL	TTCTT	TTCTT	-			TCGA-S9-A7J1-01A-21D-A34J-08	TCGA-S9-A7J1-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62d732f2-263a-4721-966c-18984791f8f2	789b7dd2-8169-4519-839d-8f7b66213675	g.chr2:25973090_25973094delTTCTT	ENST00000435504.4	-	12	1624_1628	c.1331_1335delAAGAA	c.(1330-1335)aaagaafs	p.KE444fs	ASXL2_ENST00000272341.4_Frame_Shift_Del_p.KE184fs|ASXL2_ENST00000404843.1_Frame_Shift_Del_p.KE184fs|ASXL2_ENST00000336112.4_Frame_Shift_Del_p.KE416fs			Q76L83	ASXL2_HUMAN	additional sex combs like 2 (Drosophila)	444					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTTCACACTCTTCTTTTCTGCCTGG	0.473													10	408	---	---	---	---						-	25973094	TTCTT	-	25973090	7	5	442	1	0	1	0	1	0	0	0	0	1066	1606	56	0	2980	0	ASXL2	2	25973090	Frame_Shift_Del	DEL	TTCTT	TCGA-S9-A7J1-01A-21D-A34J-08	14194258	25973090	217226283	6	35373											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-S9-A7J1-01A-21D-A34J-08	TCGA-S9-A7J1-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62d732f2-263a-4721-966c-18984791f8f2	789b7dd2-8169-4519-839d-8f7b66213675	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								35	60					0	0	1	0	0	T	209113112	C	T	209113112	3	4	442	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-S9-A7J1-01A-21D-A34J-08	183140022	209113112	34086261	7	35374											
XIRP1	165904	broad.mit.edu	37	3	39225411	39225411	+	Silent	SNP	G	G	A			TCGA-S9-A7J1-01A-21D-A34J-08	TCGA-S9-A7J1-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62d732f2-263a-4721-966c-18984791f8f2	789b7dd2-8169-4519-839d-8f7b66213675	g.chr3:39225411G>A	ENST00000340369.3	-	2	5754	c.5526C>T	c.(5524-5526)gcC>gcT	p.A1842A	XIRP1_ENST00000396251.1_3'UTR|XIRP1_ENST00000421646.1_Silent_p.A525A	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	1842	Interaction with FLNC.						actin binding			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		GGCCTCACTGGGCAGCTGGCT	0.637													10	13					0	0	1	0	0	A	39225411	G	A	39225411	2	1	442	1	0	0	0	0	0	0	0	1	17489	1219	43	2		2	XIRP1	3	39225411	Silent	SNP	G	TCGA-S9-A7J1-01A-21D-A34J-08		39225411	158797019	8	35375											
CELSR3	1951	broad.mit.edu	37	3	48696782	48696782	+	Missense_Mutation	SNP	C	C	T	rs144228630		TCGA-S9-A7J1-01A-21D-A34J-08	TCGA-S9-A7J1-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62d732f2-263a-4721-966c-18984791f8f2	789b7dd2-8169-4519-839d-8f7b66213675	g.chr3:48696782C>T	ENST00000544264.1	-	1	3566	c.3286G>A	c.(3286-3288)Gaa>Aaa	p.E1096K	CELSR3_ENST00000164024.4_Missense_Mutation_p.E1096K			Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	1096	Cadherin 8.				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		TTGGGGCCTTCGTCAGGGTCC	0.532													4	96					0	0	1	0	0	T	48696782	C	T	48696782	3	4	442	1	0	0	0	0	1	0	0	0	3245	893	31	1	6792	1	CELSR3	3	48696782	Missense_Mutation	SNP	C	TCGA-S9-A7J1-01A-21D-A34J-08	9471371	48696782	149325648	9	35376											
PIK3CA	5290	broad.mit.edu	37	3	178928078	178928080	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-S9-A7J1-01A-21D-A34J-08	TCGA-S9-A7J1-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62d732f2-263a-4721-966c-18984791f8f2	789b7dd2-8169-4519-839d-8f7b66213675	g.chr3:178928078_178928080delAGA	ENST00000263967.3	+	8	1513_1515	c.1356_1358delAGA	c.(1354-1359)ttagaa>tta	p.E453del		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	453	C2 PI3K-type.		E -> Q (in cancer; shows an increase in lipid kinase activity; may disrupt the interaction of the C2 PI3K-type domain with the iSH2 region of the p85 regulatory subunit).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E453K(11)|p.E453Q(5)|p.H450fs*9(1)|p.E453A(1)|p.P449_L455del(1)|p.G451_L456>V(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			CTCATGGATTAGAAGATTTGCTG	0.35		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			17	144	---	---	---	---						-	178928080	AGA	-	178928078	7	5	442	1	0	1	0	1	0	0	0	0	11961	417	15	0	1382	0	PIK3CA	3	178928078	In_Frame_Del	DEL	AGA	TCGA-S9-A7J1-01A-21D-A34J-08	130231296	178928078	19094352	10	35377											
IQGAP2	10788	broad.mit.edu	37	5	75871579	75871579	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7J1-01A-21D-A34J-08	TCGA-S9-A7J1-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62d732f2-263a-4721-966c-18984791f8f2	789b7dd2-8169-4519-839d-8f7b66213675	g.chr5:75871579G>A	ENST00000274364.6	+	5	740	c.443G>A	c.(442-444)tGc>tAc	p.C148Y	IQGAP2_ENST00000379730.3_5'UTR	NM_006633.2	NP_006624	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	148	CH.				small GTPase mediated signal transduction	actin cytoskeleton	actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		ATGATATATTGCATTCACGCA	0.294													4	49					0	0	1	0	0	A	75871579	G	A	75871579	3	1	442	1	0	0	0	0	1	0	0	0	7859	1319	46	2	461	2	IQGAP2	5	75871579	Missense_Mutation	SNP	G	TCGA-S9-A7J1-01A-21D-A34J-08		75871579	105043681	11	35378											
PODXL	5420	broad.mit.edu	37	7	131191446	131191446	+	Missense_Mutation	SNP	A	A	T			TCGA-S9-A7J1-01A-21D-A34J-08	TCGA-S9-A7J1-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62d732f2-263a-4721-966c-18984791f8f2	789b7dd2-8169-4519-839d-8f7b66213675	g.chr7:131191446A>T	ENST00000541194.1	-	6	1404	c.1147T>A	c.(1147-1149)Tgc>Agc	p.C383S	PODXL_ENST00000537928.1_Missense_Mutation_p.C349S|PODXL_ENST00000378555.3_Missense_Mutation_p.C381S|PODXL_ENST00000322985.9_Missense_Mutation_p.C349S	NM_001018111.2	NP_001018121.1	O00592	PODXL_HUMAN	podocalyxin-like	381					cell adhesion|epithelial tube formation|negative regulation of cell-cell adhesion|positive regulation of cell migration|positive regulation of cell-cell adhesion mediated by integrin|regulation of microvillus assembly	actin cytoskeleton|apical plasma membrane|centrosome|filopodium|integral to plasma membrane|lamellipodium|membrane raft|microvillus membrane|nucleolus|ruffle				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Melanoma(18;0.162)					ACTGCTCGGCATATCAGTGAG	0.587											OREG0018320	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	53	94					0	0	1	0	0	T	131191446	A	T	131191446	3	4	442	1	0	0	0	0	1	0	0	0	12228	217	8	4	551	4	PODXL	7	131191446	Missense_Mutation	SNP	A	TCGA-S9-A7J1-01A-21D-A34J-08		131191446	27947217	12	35379											
CRISPLD1	83690	broad.mit.edu	37	8	75937819	75937819	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A7J1-01A-21D-A34J-08	TCGA-S9-A7J1-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62d732f2-263a-4721-966c-18984791f8f2	789b7dd2-8169-4519-839d-8f7b66213675	g.chr8:75937819A>G	ENST00000262207.4	+	13	1751	c.1283A>G	c.(1282-1284)cAt>cGt	p.H428R	CRISPLD1_ENST00000523524.1_Missense_Mutation_p.H240R|CRISPLD1_ENST00000517786.1_Missense_Mutation_p.H242R	NM_031461.5	NP_113649.1	Q9H336	CRLD1_HUMAN	cysteine-rich secretory protein LCCL domain containing 1	428	LCCL 2.					extracellular region				biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(64;0.0799)		Epithelial(68;0.155)|BRCA - Breast invasive adenocarcinoma(89;0.161)			GCAAATCCACATTATGCTCGT	0.279													7	126					0	0	1	0	0	G	75937819	A	G	75937819	3	3	442	1	0	0	0	0	1	0	0	0	3905	217	8	3	1329	3	CRISPLD1	8	75937819	Missense_Mutation	SNP	A	TCGA-S9-A7J1-01A-21D-A34J-08		75937819	70426203	13	35380											
ARHGAP39	80728	broad.mit.edu	37	8	145806482	145806482	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7J1-01A-21D-A34J-08	TCGA-S9-A7J1-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62d732f2-263a-4721-966c-18984791f8f2	789b7dd2-8169-4519-839d-8f7b66213675	g.chr8:145806482G>A	ENST00000276826.5	-	2	461	c.260C>T	c.(259-261)aCg>aTg	p.T87M	ARHGAP39_ENST00000377307.2_Missense_Mutation_p.T87M|ARHGAP39_ENST00000540274.1_Missense_Mutation_p.T87M			Q9C0H5	RHG39_HUMAN	Rho GTPase activating protein 39	87	WW 2.				axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|nucleus	GTPase activator activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						CGTGCGCTGCGTGCTGGCATT	0.682													3	8					0	0	1	0	0	A	145806482	G	A	145806482	3	1	442	1	0	0	0	0	1	0	0	0	881	1145	40	1	3124	1	ARHGAP39	8	145806482	Missense_Mutation	SNP	G	TCGA-S9-A7J1-01A-21D-A34J-08	69868663	145806482	557540	14	35381											
PCSK5	5125	broad.mit.edu	37	9	78953152	78953152	+	Silent	SNP	C	C	T			TCGA-S9-A7J1-01A-21D-A34J-08	TCGA-S9-A7J1-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62d732f2-263a-4721-966c-18984791f8f2	789b7dd2-8169-4519-839d-8f7b66213675	g.chr9:78953152C>T	ENST00000545128.1	+	34	5212	c.4674C>T	c.(4672-4674)taC>taT	p.Y1558Y		NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	729					anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						TCAGATATTACGCAGACAACT	0.488													11	15					0	0	1	0	0	T	78953152	C	T	78953152	2	4	442	1	0	0	0	0	0	0	0	1	11650	551	19	1		1	PCSK5	9	78953152	Silent	SNP	C	TCGA-S9-A7J1-01A-21D-A34J-08		78953152	62260279	15	35382											
AMBP	259	broad.mit.edu	37	9	116823806	116823806	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A7J1-01A-21D-A34J-08	TCGA-S9-A7J1-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62d732f2-263a-4721-966c-18984791f8f2	789b7dd2-8169-4519-839d-8f7b66213675	g.chr9:116823806C>T	ENST00000265132.3	-	8	1013	c.751G>A	c.(751-753)Ggt>Agt	p.G251S		NM_001633.3	NP_001624.1	P02760	AMBP_HUMAN	alpha-1-microglobulin/bikunin precursor	251	BPTI/Kunitz inhibitor 1.				cell adhesion|female pregnancy|heme catabolic process|interspecies interaction between organisms|negative regulation of immune response|negative regulation of JNK cascade|protein-chromophore linkage	extracellular region|plasma membrane	calcium channel inhibitor activity|calcium oxalate binding|heme binding|IgA binding|protein homodimerization activity|serine-type endopeptidase inhibitor activity|transporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	11					Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)	ATGGATGTACCATTATAGAAA	0.557													4	81					0	0	1	0	0	T	116823806	C	T	116823806	3	4	442	1	0	0	0	0	1	0	0	0	560	594	21	2	319	2	AMBP	9	116823806	Missense_Mutation	SNP	C	TCGA-S9-A7J1-01A-21D-A34J-08	37870654	116823806	24389625	16	35383											
MUC2	4583	broad.mit.edu	37	11	1095756	1095756	+	Silent	SNP	G	G	T			TCGA-S9-A7J1-01A-21D-A34J-08	TCGA-S9-A7J1-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62d732f2-263a-4721-966c-18984791f8f2	789b7dd2-8169-4519-839d-8f7b66213675	g.chr11:1095756G>T	ENST00000441003.2	+	33	6294	c.6267G>T	c.(6265-6267)ccG>ccT	p.P2089P	MUC2_ENST00000333592.6_3'UTR|MUC2_ENST00000361558.6_Silent_p.P227P	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	4451						inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	GTGAGCCGCCGCCCATGCCCA	0.657													3	20					1	1	1	1	0	T	1095756	G	T	1095756	2	4	442	1	0	0	0	0	0	0	0	1	10023	1074	38	5		5	MUC2	11	1095756	Silent	SNP	G	TCGA-S9-A7J1-01A-21D-A34J-08		1095756	133910760	17	35384											
COPB1	1315	broad.mit.edu	37	11	14515905	14515905	+	Missense_Mutation	SNP	G	G	C			TCGA-S9-A7J1-01A-21D-A34J-08	TCGA-S9-A7J1-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62d732f2-263a-4721-966c-18984791f8f2	789b7dd2-8169-4519-839d-8f7b66213675	g.chr11:14515905G>C	ENST00000249923.3	-	3	472	c.172C>G	c.(172-174)Ctt>Gtt	p.L58V	PSMA1_ENST00000419365.2_3'UTR|COPB1_ENST00000439561.2_Missense_Mutation_p.L58V|PSMA1_ENST00000555531.1_3'UTR	NM_016451.4	NP_057535.1	P53618	COPB_HUMAN	coatomer protein complex, subunit beta 1	58					COPI coating of Golgi vesicle|interspecies interaction between organisms|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|ER-Golgi intermediate compartment|plasma membrane	protein binding|structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	36						GTCATCAGAAGTCCAGGAAGT	0.333													35	71					0	0	1	0	0	C	14515905	G	C	14515905	3	2	442	1	0	0	0	0	1	0	0	0	3751	1029	36	4	2769	4	COPB1	11	14515905	Missense_Mutation	SNP	G	TCGA-S9-A7J1-01A-21D-A34J-08	13420149	14515905	120490611	18	35385											
SLC26A10	65012	broad.mit.edu	37	12	58018904	58018906	+	Splice_Site	DEL	AGG	AGG	-			TCGA-S9-A7J1-01A-21D-A34J-08	TCGA-S9-A7J1-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62d732f2-263a-4721-966c-18984791f8f2	789b7dd2-8169-4519-839d-8f7b66213675	g.chr12:58018904_58018906delAGG	ENST00000320442.4	+	11	1655_1656	c.1344_1345delAGG	c.(1342-1347)aaagga>aaga	p.G449del	SLC26A10_ENST00000379218.2_3'UTR|SLC26A10_ENST00000490243.1_3'UTR	NM_133489.2	NP_597996.2	Q8NG04	S2610_HUMAN	solute carrier family 26, member 10	449	STAS.					integral to membrane	antiporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)	19	Melanoma(17;0.122)					CTTTACTTATAGGAGACTTCAAA	0.532													68	199	---	---	---	---						-	58018906	AGG	-	58018904	8	5	442	1	0	1	0	1	0	0	1	0	14570	434	15	0	1385	0	SLC26A10	12	58018904	Splice_Site	DEL	AGG	TCGA-S9-A7J1-01A-21D-A34J-08		58018904	75832991	19	35386											
APAF1	317	broad.mit.edu	37	12	99059486	99059486	+	Missense_Mutation	SNP	A	A	T			TCGA-S9-A7J1-01A-21D-A34J-08	TCGA-S9-A7J1-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62d732f2-263a-4721-966c-18984791f8f2	789b7dd2-8169-4519-839d-8f7b66213675	g.chr12:99059486A>T	ENST00000357310.1	+	8	1688	c.1111A>T	c.(1111-1113)Agt>Tgt	p.S371C	APAF1_ENST00000551964.1_Missense_Mutation_p.S371C|APAF1_ENST00000552268.1_Intron|APAF1_ENST00000547045.1_Missense_Mutation_p.S371C|APAF1_ENST00000550527.1_Missense_Mutation_p.S360C|APAF1_ENST00000359972.2_Missense_Mutation_p.S360C|APAF1_ENST00000339433.3_Missense_Mutation_p.S371C|APAF1_ENST00000333991.1_Intron|APAF1_ENST00000549007.1_Missense_Mutation_p.S371C	NM_181868.1	NP_863658.1	O14727	APAF_HUMAN	apoptotic peptidase activating factor 1	371	NB-ARC.				activation of caspase activity by cytochrome c|defense response|induction of apoptosis by intracellular signals|nervous system development	cytosol|Golgi apparatus|nucleus	ATP binding|caspase activator activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(1)	42					Adenosine triphosphate(DB00171)	CATGTCTATAAGTGTTGAAAT	0.383													13	39					0	0	1	0	0	T	99059486	A	T	99059486	3	4	442	1	0	0	0	0	1	0	0	0	751	72	3	5	1137	5	APAF1	12	99059486	Missense_Mutation	SNP	A	TCGA-S9-A7J1-01A-21D-A34J-08	41040582	99059486	34792409	20	35387											
CLIP1	6249	broad.mit.edu	37	12	122862135	122862135	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7J1-01A-21D-A34J-08	TCGA-S9-A7J1-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62d732f2-263a-4721-966c-18984791f8f2	789b7dd2-8169-4519-839d-8f7b66213675	g.chr12:122862135G>A	ENST00000358808.2	-	3	612	c.458C>T	c.(457-459)aCg>aTg	p.T153M	CLIP1_ENST00000361654.4_Missense_Mutation_p.T153M|CLIP1_ENST00000537178.1_Missense_Mutation_p.T153M|CLIP1_ENST00000540338.1_Missense_Mutation_p.T153M|CLIP1_ENST00000302528.7_Missense_Mutation_p.T153M	NM_001247997.1|NM_002956.2	NP_001234926.1|NP_002947.1	P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1	153	Ser-rich.				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)		CATGCTGGCCGTAGAAGTGCA	0.557													4	152					0	0	1	0	0	A	122862135	G	A	122862135	3	1	442	1	0	0	0	0	1	0	0	0	3555	1145	40	1	3917	1	CLIP1	12	122862135	Missense_Mutation	SNP	G	TCGA-S9-A7J1-01A-21D-A34J-08	23802649	122862135	10989760	21	35388											
SLITRK5	26050	broad.mit.edu	37	13	88327979	88327979	+	Silent	SNP	A	A	T			TCGA-S9-A7J1-01A-21D-A34J-08	TCGA-S9-A7J1-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62d732f2-263a-4721-966c-18984791f8f2	789b7dd2-8169-4519-839d-8f7b66213675	g.chr13:88327979A>T	ENST00000325089.6	+	2	555	c.336A>T	c.(334-336)ctA>ctT	p.L112L	SLITRK5_ENST00000400028.3_Intron	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	112						integral to membrane				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					TTTTGCATCTAGGTAGCAATG	0.458													73	129					0	0	1	0	0	T	88327979	A	T	88327979	2	4	442	1	0	0	0	0	0	0	0	1	14800	407	15	5		5	SLITRK5	13	88327979	Silent	SNP	A	TCGA-S9-A7J1-01A-21D-A34J-08		88327979	26841899	22	35389											
SLC10A2	6555	broad.mit.edu	37	13	103710695	103710695	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A7J1-01A-21D-A34J-08	TCGA-S9-A7J1-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62d732f2-263a-4721-966c-18984791f8f2	789b7dd2-8169-4519-839d-8f7b66213675	g.chr13:103710695C>T	ENST00000245312.3	-	2	1011	c.415G>A	c.(415-417)Gga>Aga	p.G139R		NM_000452.2	NP_000443	Q12908	NTCP2_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 2	139					bile acid metabolic process|organic anion transport	integral to plasma membrane	bile acid:sodium symporter activity			breast(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					GGCATCATTCCGAGGGCAAGC	0.473													15	32					0	0	1	0	0	T	103710695	C	T	103710695	3	4	442	1	0	0	0	0	1	0	0	0	14429	661	23	1	651	1	SLC10A2	13	103710695	Missense_Mutation	SNP	C	TCGA-S9-A7J1-01A-21D-A34J-08	15382716	103710695	11459183	23	35390											
CHRFAM7A	89832	broad.mit.edu	37	15	30664498	30664498	+	Missense_Mutation	SNP	C	C	A			TCGA-S9-A7J1-01A-21D-A34J-08	TCGA-S9-A7J1-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62d732f2-263a-4721-966c-18984791f8f2	789b7dd2-8169-4519-839d-8f7b66213675	g.chr15:30664498C>A	ENST00000397827.3	-	6	876	c.102G>T	c.(100-102)gaG>gaT	p.E34D	CHRFAM7A_ENST00000401522.3_Missense_Mutation_p.E34D|CHRFAM7A_ENST00000299847.2_Missense_Mutation_p.E125D	NM_148911.1	NP_683709.1	Q494W8	CRFM7_HUMAN	CHRNA7 (cholinergic receptor, nicotinic, alpha 7, exons 5-10) and FAM7A (family with sequence similarity 7A, exons A-E) fusion	125						integral to membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity			large_intestine(3)|lung(1)|skin(2)	6		all_lung(180;3.42e-11)|Breast(32;0.000153)		all cancers(64;1.9e-15)|Epithelial(43;3.59e-12)|GBM - Glioblastoma multiforme(186;9e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)|Lung(196;0.153)		CAGGGTAGGGCTCTTTGCAGC	0.542													10	27					0.000442599	0.000467891	1	1	0	A	30664498	C	A	30664498	3	1	442	1	0	0	0	0	1	0	0	0	3397	796	28	4	879	4	CHRFAM7A	15	30664498	Missense_Mutation	SNP	C	TCGA-S9-A7J1-01A-21D-A34J-08		30664498	71866894	24	35391											
KIF23	9493	broad.mit.edu	37	15	69727846	69727846	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A7J1-01A-21D-A34J-08	TCGA-S9-A7J1-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62d732f2-263a-4721-966c-18984791f8f2	789b7dd2-8169-4519-839d-8f7b66213675	g.chr15:69727846C>T	ENST00000260363.4	+	11	1214	c.1097C>T	c.(1096-1098)aCg>aTg	p.T366M	KIF23_ENST00000559279.1_Missense_Mutation_p.T366M|KIF23_ENST00000395392.2_Missense_Mutation_p.T366M|KIF23_ENST00000537891.1_Missense_Mutation_p.T183M|KIF23_ENST00000558585.1_Missense_Mutation_p.T183M|KIF23_ENST00000352331.4_Missense_Mutation_p.T366M	NM_138555.2	NP_612565.1	Q02241	KIF23_HUMAN	kinesin family member 23	366					blood coagulation|cytokinesis|microtubule-based movement|mitosis|mitotic spindle elongation	cytosol|kinesin complex|microtubule|midbody|nucleoplasm|spindle	ATP binding|microtubule motor activity|protein binding			central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(6)|prostate(2)|skin(1)	21						TCACTAATGACGCTAAGAACA	0.353													15	53					0	0	1	0	0	T	69727846	C	T	69727846	3	4	442	1	0	0	0	0	1	0	0	0	8333	536	19	1	1139	1	KIF23	15	69727846	Missense_Mutation	SNP	C	TCGA-S9-A7J1-01A-21D-A34J-08	39063348	69727846	32803546	25	35392											
FES	2242	broad.mit.edu	37	15	91433669	91433669	+	Missense_Mutation	SNP	G	G	C			TCGA-S9-A7J1-01A-21D-A34J-08	TCGA-S9-A7J1-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62d732f2-263a-4721-966c-18984791f8f2	789b7dd2-8169-4519-839d-8f7b66213675	g.chr15:91433669G>C	ENST00000328850.3	+	10	1417	c.1275G>C	c.(1273-1275)gaG>gaC	p.E425D	FES_ENST00000448367.1_3'UTR|FES_ENST00000450438.2_Missense_Mutation_p.E367D|FES_ENST00000444422.2_Missense_Mutation_p.E425D|FES_ENST00000414248.2_Missense_Mutation_p.E367D|FES_ENST00000394302.1_Missense_Mutation_p.E367D|FES_ENST00000394300.3_Missense_Mutation_p.E367D	NM_002005.3	NP_001996.1	P07332	FES_HUMAN	feline sarcoma oncogene	425					axon guidance|cell proliferation|peptidyl-tyrosine phosphorylation	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			lung(2)|ovary(1)	3	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			CCACGCTGGAGATCCTTAAGA	0.612													22	41					0	0	1	0	0	C	91433669	G	C	91433669	3	2	442	1	0	0	0	0	1	0	0	0	5853	933	33	4	1309	4	FES	15	91433669	Missense_Mutation	SNP	G	TCGA-S9-A7J1-01A-21D-A34J-08	21705823	91433669	11097723	26	35393											
HYDIN	54768	broad.mit.edu	37	16	70917932	70917932	+	Silent	SNP	G	G	A	rs141625832	by1000genomes	TCGA-S9-A7J1-01A-21D-A34J-08	TCGA-S9-A7J1-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62d732f2-263a-4721-966c-18984791f8f2	789b7dd2-8169-4519-839d-8f7b66213675	g.chr16:70917932G>A	ENST00000393567.2	-	59	10020	c.9870C>T	c.(9868-9870)gaC>gaT	p.D3290D		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	3290										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				TTCCCATGGCGTCAGCCACAC	0.567													7	29					0	0	1	0	0	A	70917932	G	A	70917932	2	1	442	1	0	0	0	0	0	0	0	1	7511	1136	40	1		1	HYDIN	16	70917932	Silent	SNP	G	TCGA-S9-A7J1-01A-21D-A34J-08		70917932	19436821	27	35394											
TOP3A	7156	broad.mit.edu	37	17	18181116	18181116	+	Missense_Mutation	SNP	G	G	T			TCGA-S9-A7J1-01A-21D-A34J-08	TCGA-S9-A7J1-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62d732f2-263a-4721-966c-18984791f8f2	789b7dd2-8169-4519-839d-8f7b66213675	g.chr17:18181116G>T	ENST00000321105.5	-	18	2914	c.2700C>A	c.(2698-2700)agC>agA	p.S900R	TOP3A_ENST00000542570.1_Missense_Mutation_p.S805R|TOP3A_ENST00000540524.1_Missense_Mutation_p.S430R	NM_004618.3	NP_004609.1	Q13472	TOP3A_HUMAN	topoisomerase (DNA) III alpha	900	2 X 27 AA approximate repeats.				DNA topological change|meiosis	chromosome|PML body	ATP binding|DNA topoisomerase type I activity|protein binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(2)|urinary_tract(1)	36						CGGAGGGCTGGCTGCAAAGGC	0.622													23	45					1.10513e-12	1.23909e-12	1	1	0	T	18181116	G	T	18181116	3	4	442	1	0	0	0	0	1	0	0	0	16428	1194	42	5	313	5	TOP3A	17	18181116	Missense_Mutation	SNP	G	TCGA-S9-A7J1-01A-21D-A34J-08		18181116	63014094	28	35395											
CIC	23152	broad.mit.edu	37	19	42797980	42797981	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-S9-A7J1-01A-21D-A34J-08	TCGA-S9-A7J1-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62d732f2-263a-4721-966c-18984791f8f2	789b7dd2-8169-4519-839d-8f7b66213675	g.chr19:42797980_42797981delTG	ENST00000572681.2	+	17	6821_6822	c.6753_6754delTG	c.(6751-6756)tctgtgfs	p.V2252fs	CIC_ENST00000575354.2_Frame_Shift_Del_p.V1345fs|CIC_ENST00000160740.3_Frame_Shift_Del_p.V1343fs			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	1345					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CCTTTGACTCTGTGGACAAGTG	0.693			"Mis, F, S"		oligodendroglioma								18	68	---	---	---	---						-	42797981	TG	-	42797980	7	5	442	1	0	1	0	1	0	0	0	0	3446	1567	55	0	4094	0	CIC	19	42797980	Frame_Shift_Del	DEL	TG	TCGA-S9-A7J1-01A-21D-A34J-08		42797980	16331003	29	35396											
ZNF324	25799	broad.mit.edu	37	19	58982998	58982998	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7J1-01A-21D-A34J-08	TCGA-S9-A7J1-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62d732f2-263a-4721-966c-18984791f8f2	789b7dd2-8169-4519-839d-8f7b66213675	g.chr19:58982998G>A	ENST00000536459.2	+	4	1848	c.1139G>A	c.(1138-1140)cGc>cAc	p.R380H	ZNF324_ENST00000196482.3_Missense_Mutation_p.R380H|ZNF324_ENST00000535298.1_Missense_Mutation_p.R157H			O75467	Z324A_HUMAN	zinc finger protein 324	380					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(2)|prostate(2)|urinary_tract(2)	16		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		CGCTTCTGCCGCAACTCGCAC	0.657													3	25					0	0	1	0	0	A	58982998	G	A	58982998	3	1	442	1	0	0	0	0	1	0	0	0	17901	1087	38	1	1149	1	ZNF324	19	58982998	Missense_Mutation	SNP	G	TCGA-S9-A7J1-01A-21D-A34J-08	16185018	58982998	145985	30	35397											
NPBWR2	2832	broad.mit.edu	37	20	62737689	62737689	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A7J1-01A-21D-A34J-08	TCGA-S9-A7J1-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62d732f2-263a-4721-966c-18984791f8f2	789b7dd2-8169-4519-839d-8f7b66213675	g.chr20:62737689C>T	ENST00000369768.1	-	1	835	c.496G>A	c.(496-498)Gcc>Acc	p.A166T		NM_005286.2	NP_005277.2	P48146	NPBW2_HUMAN	neuropeptides B/W receptor 2	166						plasma membrane	opioid receptor activity|protein binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(38;2.58e-11)|all_epithelial(29;6.4e-13)|Lung NSC(23;1.25e-09)|all_lung(23;4.21e-09)					CACAGGCTGGCGACCTTCGCC	0.647													4	26					0	0	1	0	0	T	62737689	C	T	62737689	3	4	442	1	0	0	0	0	1	0	0	0	10616	768	27	1	508	1	NPBWR2	20	62737689	Missense_Mutation	SNP	C	TCGA-S9-A7J1-01A-21D-A34J-08		62737689	287831	31	35398											
RIBC2	26150	broad.mit.edu	37	22	45826809	45826809	+	Missense_Mutation	SNP	C	C	G			TCGA-S9-A7J1-01A-21D-A34J-08	TCGA-S9-A7J1-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62d732f2-263a-4721-966c-18984791f8f2	789b7dd2-8169-4519-839d-8f7b66213675	g.chr22:45826809C>G	ENST00000342894.3	+	6	1128	c.714C>G	c.(712-714)gaC>gaG	p.D238E	RIBC2_ENST00000466226.1_3'UTR|RIBC2_ENST00000538017.1_Missense_Mutation_p.D306E			Q9H4K1	RIBC2_HUMAN	RIB43A domain with coiled-coils 2	238										NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|skin(2)|urinary_tract(1)	10		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		GCCAGCGAGACCTGGACTGGG	0.642													5	14					0	0	1	0	0	G	45826809	C	G	45826809	3	3	442	1	0	0	0	0	1	0	0	0	13403	506	18	5	939	5	RIBC2	22	45826809	Missense_Mutation	SNP	C	TCGA-S9-A7J1-01A-21D-A34J-08		45826809	5477757	32	35399											
HMGCS2	3158	broad.mit.edu	37	1	120302572	120302572	+	Nonsense_Mutation	SNP	A	A	T			TCGA-S9-A7J2-01A-11D-A34A-08	TCGA-S9-A7J2-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ec5804-ccd5-4a03-b250-4936b783ad4a	9807aded-c9bc-4500-b7ba-32967f7019df	g.chr1:120302572A>T	ENST00000369406.3	-	3	649	c.600T>A	c.(598-600)taT>taA	p.Y200*	HMGCS2_ENST00000544913.2_Intron|HMGCS2_ENST00000476640.1_5'UTR	NM_005518.3	NP_005509.1	P54868	HMCS2_HUMAN	3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial)	200					acetoacetic acid biosynthetic process|cholesterol biosynthetic process|isoprenoid biosynthetic process|ketone body biosynthetic process	mitochondrial matrix	hydroxymethylglutaryl-CoA synthase activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28	all_cancers(5;6.38e-10)|all_epithelial(5;1.1e-10)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219)	all_lung(203;1.29e-06)|Lung NSC(69;9.35e-06)|all_epithelial(167;0.00124)		Lung(183;0.0112)|LUSC - Lung squamous cell carcinoma(189;0.0595)		TACCACTGGGATAGACGGCAA	0.517													3	23					0	0	1	0	0	T	120302572	A	T	120302572	4	4	443	1	0	0	0	0	0	1	0	0	7274	340	12	4	954	4	HMGCS2	1	120302572	Nonsense_Mutation	SNP	A	TCGA-S9-A7J2-01A-11D-A34A-08		120302572	128948049	1	35400											
KLHL23	151230	broad.mit.edu	37	2	170592131	170592131	+	Missense_Mutation	SNP	C	C	A			TCGA-S9-A7J2-01A-11D-A34A-08	TCGA-S9-A7J2-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ec5804-ccd5-4a03-b250-4936b783ad4a	9807aded-c9bc-4500-b7ba-32967f7019df	g.chr2:170592131C>A	ENST00000392647.2	+	2	851	c.607C>A	c.(607-609)Cca>Aca	p.P203T	KLHL23_ENST00000272797.4_Missense_Mutation_p.P203T|KLHL23_ENST00000602521.1_Intron	NM_144711.5	NP_653312.2	Q8NBE8	KLH23_HUMAN	kelch-like family member 23	203	BACK.									breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(4)|skin(1)|urinary_tract(1)	16						TATCATAGAGCCAGTTATTAA	0.353													3	69					0.115264	0.115264	1	1	0	A	170592131	C	A	170592131	3	1	443	1	0	0	0	0	1	0	0	0	8421	739	26	5	609	5	KLHL23	2	170592131	Missense_Mutation	SNP	C	TCGA-S9-A7J2-01A-11D-A34A-08		170592131	72607242	2	35401											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-S9-A7J2-01A-11D-A34A-08	TCGA-S9-A7J2-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ec5804-ccd5-4a03-b250-4936b783ad4a	9807aded-c9bc-4500-b7ba-32967f7019df	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	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								47	55					0	0	1	0	0	T	209113112	C	T	209113112	3	4	443	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-S9-A7J2-01A-11D-A34A-08	38520981	209113112	34086261	3	35402											
AGAP1	116987	broad.mit.edu	37	2	236706492	236706492	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7J2-01A-11D-A34A-08	TCGA-S9-A7J2-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ec5804-ccd5-4a03-b250-4936b783ad4a	9807aded-c9bc-4500-b7ba-32967f7019df	g.chr2:236706492G>A	ENST00000304032.8	+	7	1343	c.763G>A	c.(763-765)Gtc>Atc	p.V255I	AGAP1_ENST00000409538.1_Missense_Mutation_p.V520I|AGAP1_ENST00000336665.5_Missense_Mutation_p.V255I|AGAP1_ENST00000428334.2_Missense_Mutation_p.V94I|AGAP1_ENST00000409457.1_Missense_Mutation_p.V255I	NM_001037131.2	NP_001032208.1	Q9UPQ3	AGAP1_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 1		Small GTPase-like.				protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm	ARF GTPase activator activity|GTP binding|zinc ion binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						CCATTCCTCCGTCTGTTCCGC	0.512													14	191					0	0	1	0	0	A	236706492	G	A	236706492	3	1	443	1	0	0	0	0	1	0	0	0	365	1145	40	1	789	1	AGAP1	2	236706492	Missense_Mutation	SNP	G	TCGA-S9-A7J2-01A-11D-A34A-08	27593380	236706492	6492881	4	35403											
CADPS	8618	broad.mit.edu	37	3	62751626	62751626	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7J2-01A-11D-A34A-08	TCGA-S9-A7J2-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ec5804-ccd5-4a03-b250-4936b783ad4a	9807aded-c9bc-4500-b7ba-32967f7019df	g.chr3:62751626G>A	ENST00000383710.4	-	2	824	c.475C>T	c.(475-477)Cgg>Tgg	p.R159W	CADPS_ENST00000283269.9_Missense_Mutation_p.R159W|CADPS_ENST00000357948.3_Missense_Mutation_p.R159W|CADPS_ENST00000490353.2_Missense_Mutation_p.R159W	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	159					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		GCCTGAAACCGGTCCTTGACT	0.453													36	70					0	0	1	0	0	A	62751626	G	A	62751626	3	1	443	1	0	0	0	0	1	0	0	0	2588	1115	39	1	3775	1	CADPS	3	62751626	Missense_Mutation	SNP	G	TCGA-S9-A7J2-01A-11D-A34A-08		62751626	135270804	5	35404											
RBM47	54502	broad.mit.edu	37	4	40440030	40440030	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7J2-01A-11D-A34A-08	TCGA-S9-A7J2-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ec5804-ccd5-4a03-b250-4936b783ad4a	9807aded-c9bc-4500-b7ba-32967f7019df	g.chr4:40440030G>A	ENST00000319592.4	-	4	1590	c.881C>T	c.(880-882)gCc>gTc	p.A294V	RBM47_ENST00000381795.6_Missense_Mutation_p.A294V|RBM47_ENST00000514014.1_Missense_Mutation_p.A256V|RBM47_ENST00000295971.7_Missense_Mutation_p.A294V|RBM47_ENST00000381793.2_Missense_Mutation_p.A294V|RBM47_ENST00000515809.1_Intron			A0AV96	RBM47_HUMAN	RNA binding motif protein 47	294	RRM 3.					nucleus	nucleotide binding|RNA binding			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						GGCATGCACGGCATCCTCGCG	0.622													3	50					0	0	1	0	0	A	40440030	G	A	40440030	3	1	443	1	0	0	0	0	1	0	0	0	13193	1203	42	2	916	2	RBM47	4	40440030	Missense_Mutation	SNP	G	TCGA-S9-A7J2-01A-11D-A34A-08		40440030	150714246	6	35405											
EDN1	1906	broad.mit.edu	37	6	12296198	12296198	+	Silent	SNP	G	G	A			TCGA-S9-A7J2-01A-11D-A34A-08	TCGA-S9-A7J2-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ec5804-ccd5-4a03-b250-4936b783ad4a	9807aded-c9bc-4500-b7ba-32967f7019df	g.chr6:12296198G>A	ENST00000379375.5	+	5	804	c.537G>A	c.(535-537)tcG>tcA	p.S179S		NM_001168319.1|NM_001955.4	NP_001161791.1|NP_001946.3	P05305	EDN1_HUMAN	endothelin 1	179					artery smooth muscle contraction|calcium-mediated signaling|leukocyte activation|negative regulation of blood coagulation|negative regulation of cellular protein metabolic process|negative regulation of nitric-oxide synthase biosynthetic process|negative regulation of transcription from RNA polymerase II promoter|nitric oxide transport|peptide hormone secretion|phosphatidylinositol 3-kinase cascade|positive regulation of cardiac muscle hypertrophy|positive regulation of cell size|positive regulation of endothelial cell migration|positive regulation of heart rate|positive regulation of hormone secretion|positive regulation of JUN kinase activity|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of sarcomere organization|positive regulation of smooth muscle cell proliferation|prostaglandin biosynthetic process|protein kinase C deactivation|regulation of systemic arterial blood pressure by endothelin|regulation of vasoconstriction|vein smooth muscle contraction	cytoplasm|extracellular space	cytokine activity|endothelin A receptor binding|endothelin B receptor binding|hormone activity	p.S179S(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	13	all_cancers(95;0.241)|Breast(50;0.0266)|Ovarian(93;0.12)	all_hematologic(90;0.117)				TTATTAGGTCGGAGACCATGA	0.393													11	146					0	0	1	0	0	A	12296198	G	A	12296198	2	1	443	1	0	0	0	0	0	0	0	1	4942	1103	39	1		1	EDN1	6	12296198	Silent	SNP	G	TCGA-S9-A7J2-01A-11D-A34A-08		12296198	158818869	7	35406											
TCP10	6953	broad.mit.edu	37	6	167796320	167796320	+	Silent	SNP	G	G	A			TCGA-S9-A7J2-01A-11D-A34A-08	TCGA-S9-A7J2-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ec5804-ccd5-4a03-b250-4936b783ad4a	9807aded-c9bc-4500-b7ba-32967f7019df	g.chr6:167796320G>A	ENST00000366827.2	-	2	253	c.42C>T	c.(40-42)gaC>gaT	p.D14D	TCP10_ENST00000397829.4_Silent_p.D14D|TCP10_ENST00000476779.2_Silent_p.D14D			Q12799	TCP10_HUMAN	t-complex 10	41						cytosol				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(6)	18		Breast(66;1.53e-05)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)|GBM - Glioblastoma multiforme(31;0.0386)		CGGCATTGCTGTCCTCCCTGG	0.652													3	24					0	0	1	0	0	A	167796320	G	A	167796320	2	1	443	1	0	0	0	0	0	0	0	1	15770	1368	48	2		2	TCP10	6	167796320	Silent	SNP	G	TCGA-S9-A7J2-01A-11D-A34A-08	155500122	167796320	3318747	8	35407											
LMOD2	442721	broad.mit.edu	37	7	123301995	123301997	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-S9-A7J2-01A-11D-A34A-08	TCGA-S9-A7J2-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ec5804-ccd5-4a03-b250-4936b783ad4a	9807aded-c9bc-4500-b7ba-32967f7019df	g.chr7:123301995_123301997delGAG	ENST00000458573.2	+	2	512_514	c.355_357delGAG	c.(355-357)gagdel	p.E124del	LMOD2_ENST00000456238.2_Intron	NM_207163.1	NP_997046.1	Q6P5Q4	LMOD2_HUMAN	leiomodin 2 (cardiac)	124	Glu-rich.					cytoskeleton	actin binding|tropomyosin binding										AGTGTATACAgaggaggaggagg	0.409													2	4	---	---	---	---						-	123301997	GAG	-	123301995	7	5	443	1	0	1	0	1	0	0	0	0	8898	943	33	0	361	0	LMOD2	7	123301995	In_Frame_Del	DEL	GAG	TCGA-S9-A7J2-01A-11D-A34A-08		123301995	35836668	9	35408											
MUC5B	727897	broad.mit.edu	37	11	1266182	1266182	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A7J2-01A-11D-A34A-08	TCGA-S9-A7J2-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ec5804-ccd5-4a03-b250-4936b783ad4a	9807aded-c9bc-4500-b7ba-32967f7019df	g.chr11:1266182C>T	ENST00000447027.1	+	31	8139	c.8081C>T	c.(8080-8082)aCc>aTc	p.T2694I	MUC5B_ENST00000529681.1_Missense_Mutation_p.T2691I|RP11-532E4.2_ENST00000532061.2_RNA			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	2691	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398).	cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		ccatcactgaccaccacggcc	0.622													6	10					0	0	1	0	0	T	1266182	C	T	1266182	3	4	443	1	0	0	0	0	1	0	0	0	10027	507	18	2	8203	2	MUC5B	11	1266182	Missense_Mutation	SNP	C	TCGA-S9-A7J2-01A-11D-A34A-08		1266182	133740334	10	35409											
RNF214	257160	broad.mit.edu	37	11	117153161	117153161	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7J2-01A-11D-A34A-08	TCGA-S9-A7J2-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ec5804-ccd5-4a03-b250-4936b783ad4a	9807aded-c9bc-4500-b7ba-32967f7019df	g.chr11:117153161G>A	ENST00000530849.1	+	11	1299	c.1289G>A	c.(1288-1290)cGt>cAt	p.R430H	RNF214_ENST00000300650.4_Missense_Mutation_p.R585H|RNF214_ENST00000524917.1_3'UTR|RNF214_ENST00000531287.1_Missense_Mutation_p.R430H|RNF214_ENST00000531452.1_Missense_Mutation_p.R585H			Q8ND24	RN214_HUMAN	ring finger protein 214	585							zinc ion binding			cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	23	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.88e-05)|Epithelial(105;0.000397)|all cancers(92;0.00258)		AAGACAGCACGTACCACCATG	0.517													28	26					0	0	1	0	0	A	117153161	G	A	117153161	3	1	443	1	0	0	0	0	1	0	0	0	13530	1145	40	1	1796	1	RNF214	11	117153161	Missense_Mutation	SNP	G	TCGA-S9-A7J2-01A-11D-A34A-08	115886979	117153161	17853355	11	35410											
ANO6	196527	broad.mit.edu	37	12	45741926	45741926	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7J2-01A-11D-A34A-08	TCGA-S9-A7J2-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ec5804-ccd5-4a03-b250-4936b783ad4a	9807aded-c9bc-4500-b7ba-32967f7019df	g.chr12:45741926G>A	ENST00000320560.8	+	5	663	c.461G>A	c.(460-462)cGg>cAg	p.R154Q	ANO6_ENST00000423947.3_Missense_Mutation_p.R175Q|ANO6_ENST00000426898.2_3'UTR|ANO6_ENST00000435642.1_Missense_Mutation_p.R154Q|ANO6_ENST00000441606.2_Missense_Mutation_p.R136Q|ANO6_ENST00000425752.2_Missense_Mutation_p.R154Q	NM_001025356.2	NP_001020527.2	Q4KMQ2	ANO6_HUMAN	anoctamin 6	154					activation of blood coagulation via clotting cascade|phosphatidylserine exposure on blood platelet	chloride channel complex|plasma membrane	chloride channel activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						CTGAAAAACCGGTCCTCAGCC	0.438													41	47					0	0	1	0	0	A	45741926	G	A	45741926	3	1	443	1	0	0	0	0	1	0	0	0	695	1116	39	1	499	1	ANO6	12	45741926	Missense_Mutation	SNP	G	TCGA-S9-A7J2-01A-11D-A34A-08		45741926	88109969	12	35411											
COL2A1	1280	broad.mit.edu	37	12	48380873	48380873	+	Silent	SNP	C	C	T			TCGA-S9-A7J2-01A-11D-A34A-08	TCGA-S9-A7J2-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ec5804-ccd5-4a03-b250-4936b783ad4a	9807aded-c9bc-4500-b7ba-32967f7019df	g.chr12:48380873C>T	ENST00000380518.3	-	21	1517	c.1353G>A	c.(1351-1353)ccG>ccA	p.P451P	COL2A1_ENST00000493991.1_5'UTR|COL2A1_ENST00000337299.6_Silent_p.P382P	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	451	Triple-helical region.				axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	TCTGACCTTTCGGGCCCAGAG	0.622													43	46					0	0	1	0	0	T	48380873	C	T	48380873	2	4	443	1	0	0	0	0	0	0	0	1	3710	871	31	1		1	COL2A1	12	48380873	Silent	SNP	C	TCGA-S9-A7J2-01A-11D-A34A-08	2638947	48380873	85471022	13	35412											
CILP	8483	broad.mit.edu	37	15	65491077	65491077	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A7J2-01A-11D-A34A-08	TCGA-S9-A7J2-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ec5804-ccd5-4a03-b250-4936b783ad4a	9807aded-c9bc-4500-b7ba-32967f7019df	g.chr15:65491077C>T	ENST00000261883.4	-	9	1713	c.1547G>A	c.(1546-1548)cGt>cAt	p.R516H		NM_003613.3	NP_003604	O75339	CILP1_HUMAN	cartilage intermediate layer protein, nucleotide pyrophosphohydrolase	516					negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						CATGCTTACACGGCTGTTCCC	0.582													21	30					0	0	1	0	0	T	65491077	C	T	65491077	3	4	443	1	0	0	0	0	1	0	0	0	3451	536	19	1	2011	1	CILP	15	65491077	Missense_Mutation	SNP	C	TCGA-S9-A7J2-01A-11D-A34A-08		65491077	37040315	14	35413											
PRKCB	5579	broad.mit.edu	37	16	23848694	23848694	+	Splice_Site	SNP	A	A	G			TCGA-S9-A7J2-01A-11D-A34A-08	TCGA-S9-A7J2-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ec5804-ccd5-4a03-b250-4936b783ad4a	9807aded-c9bc-4500-b7ba-32967f7019df	g.chr16:23848694A>G	ENST00000303531.7	+	2	325		c.e2-1		PRKCB_ENST00000498058.1_Intron|PRKCB_ENST00000321728.7_Splice_Site	NM_002738.6	NP_002729.2	P05771	KPCB_HUMAN	protein kinase C, beta						apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding			central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Vitamin E(DB00163)	CTGCTTTTGCAGGGGCTTCGG	0.567													4	169					0	0	1	0	0	G	23848694	A	G	23848694	5	3	443	1	0	0	0	0	0	0	1	0	12560	202	7	3	178	3	PRKCB	16	23848694	Splice_Site	SNP	A	TCGA-S9-A7J2-01A-11D-A34A-08		23848694	66506059	15	35414											
CIC	23152	broad.mit.edu	37	19	42791715	42791715	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A7J2-01A-11D-A34A-08	TCGA-S9-A7J2-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ec5804-ccd5-4a03-b250-4936b783ad4a	9807aded-c9bc-4500-b7ba-32967f7019df	g.chr19:42791715C>T	ENST00000572681.2	+	6	3396	c.3328C>T	c.(3328-3330)Cgg>Tgg	p.R1110W	CIC_ENST00000160740.3_Missense_Mutation_p.R201W|CIC_ENST00000575354.2_Missense_Mutation_p.R201W			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	201	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	p.R201W(1)		autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				GGACCACATCCGGCGGCCCAT	0.622			"Mis, F, S"		oligodendroglioma								32	5					0	0	1	0	0	T	42791715	C	T	42791715	3	4	443	1	0	0	0	0	1	0	0	0	3446	643	23	1	619	1	CIC	19	42791715	Missense_Mutation	SNP	C	TCGA-S9-A7J2-01A-11D-A34A-08		42791715	16337268	16	35415											
BCORL1	63035	broad.mit.edu	37	X	129155055	129155055	+	Frame_Shift_Del	DEL	G	G	-			TCGA-S9-A7J2-01A-11D-A34A-08	TCGA-S9-A7J2-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ec5804-ccd5-4a03-b250-4936b783ad4a	9807aded-c9bc-4500-b7ba-32967f7019df	g.chrX:129155055delG	ENST00000540052.1	+	4	3581	c.3537delG	c.(3535-3537)aagfs	p.K1179fs	BCORL1_ENST00000303743.5_Frame_Shift_Del_p.K1179fs|BCORL1_ENST00000359304.2_Frame_Shift_Del_p.K1179fs|BCORL1_ENST00000218147.7_Frame_Shift_Del_p.K1179fs	NM_021946.4	NP_068765	Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	1179					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						TCAGGGGAAAGCACAAGCACC	0.622													15	3	---	---	---	---						-	129155055	G	-	129155055	7	5	443	1	0	1	0	1	0	0	0	0	1385	962	34	0	3551	0	BCORL1	23	129155055	Frame_Shift_Del	DEL	G	TCGA-S9-A7J2-01A-11D-A34A-08		129155055	26115505	17	35416											
AHDC1	27245	broad.mit.edu	37	1	27877971	27877971	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7J3-01A-21D-A34J-08	TCGA-S9-A7J3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8532359d-7b4d-4556-afdf-2885c7604b66	d3de3deb-2955-44a3-853f-56f22803d4a2	g.chr1:27877971G>A	ENST00000374011.2	-	6	1624	c.656C>T	c.(655-657)aCg>aTg	p.T219M	AHDC1_ENST00000247087.5_Missense_Mutation_p.T219M	NM_001029882.2	NP_001025053.1	Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	219	Pro-rich.						DNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		GGCCGCAGCCGTGGCTCCGGG	0.652													26	11					0	0	1	0	0	A	27877971	G	A	27877971	3	1	444	1	0	0	0	0	1	0	0	0	409	1145	40	1	4159	1	AHDC1	1	27877971	Missense_Mutation	SNP	G	TCGA-S9-A7J3-01A-21D-A34J-08		27877971	221372650	1	35417											
FUBP1	8880	broad.mit.edu	37	1	78430433	78430433	+	Splice_Site	SNP	C	C	T			TCGA-S9-A7J3-01A-21D-A34J-08	TCGA-S9-A7J3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8532359d-7b4d-4556-afdf-2885c7604b66	d3de3deb-2955-44a3-853f-56f22803d4a2	g.chr1:78430433C>T	ENST00000370767.1	-	10	823		c.e10-1		FUBP1_ENST00000436586.2_Splice_Site|FUBP1_ENST00000370768.2_Splice_Site			Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1						transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						CCTTGGCTTGCTAAAGCAGAA	0.373			"F, N"		oligodendroglioma								10	54					0	0	1	0	0	T	78430433	C	T	78430433	5	4	444	1	0	0	0	0	0	0	1	0	6127	811	28	2	1243	2	FUBP1	1	78430433	Splice_Site	SNP	C	TCGA-S9-A7J3-01A-21D-A34J-08	50552462	78430433	170820188	2	35418											
FUBP1	8880	broad.mit.edu	37	1	78430905	78430906	+	Frame_Shift_Ins	INS	-	-	T			TCGA-S9-A7J3-01A-21D-A34J-08	TCGA-S9-A7J3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8532359d-7b4d-4556-afdf-2885c7604b66	d3de3deb-2955-44a3-853f-56f22803d4a2	g.chr1:78430905_78430906insT	ENST00000370767.1	-	8	570_571	c.483_484insA	c.(481-486)aaacggfs	p.R162fs	FUBP1_ENST00000370768.2_Frame_Shift_Ins_p.R162fs|FUBP1_ENST00000436586.2_Frame_Shift_Ins_p.R183fs			Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1	162	KH 1.				transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						TCCAGTAACCGTTTTGCTGACC	0.381			"F, N"		oligodendroglioma								8	75	---	---	---	---						T	78430906	-	T	78430905	7	5	444	1	0	1	1	0	0	0	0	0	6127	1144	40	0	1502	0	FUBP1	1	78430905	Frame_Shift_Ins	INS	-	TCGA-S9-A7J3-01A-21D-A34J-08	472	78430905	170819716	3	35419											
PTPN7	5778	broad.mit.edu	37	1	202124738	202124738	+	Splice_Site	SNP	C	C	T			TCGA-S9-A7J3-01A-21D-A34J-08	TCGA-S9-A7J3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8532359d-7b4d-4556-afdf-2885c7604b66	d3de3deb-2955-44a3-853f-56f22803d4a2	g.chr1:202124738C>T	ENST00000309017.3	-	5	1480		c.e5-1		PTPN7_ENST00000367279.4_Splice_Site|PTPN7_ENST00000308986.5_Splice_Site|PTPN7_ENST00000543735.1_Splice_Site|PTPN7_ENST00000544762.1_Intron|PTPN7_ENST00000492977.1_Splice_Site	NM_001199797.1|NM_002832.3	NP_001186726.1|NP_002823.3	P35236	PTN7_HUMAN	protein tyrosine phosphatase, non-receptor type 7							cytosol|internal side of plasma membrane	protein binding|protein tyrosine phosphatase activity	p.?(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1)|soft_tissue(1)|urinary_tract(1)	13						CTCTGGGGATCTAGGAAATAA	0.527													4	39					0	0	1	0	0	T	202124738	C	T	202124738	5	4	444	1	0	0	0	0	0	0	1	0	12845	927	32	2	715	2	PTPN7	1	202124738	Splice_Site	SNP	C	TCGA-S9-A7J3-01A-21D-A34J-08	123693833	202124738	47125883	4	35420											
PM20D1	148811	broad.mit.edu	37	1	205819111	205819111	+	Missense_Mutation	SNP	G	G	T			TCGA-S9-A7J3-01A-21D-A34J-08	TCGA-S9-A7J3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8532359d-7b4d-4556-afdf-2885c7604b66	d3de3deb-2955-44a3-853f-56f22803d4a2	g.chr1:205819111G>T	ENST00000367136.4	-	1	134	c.90C>A	c.(88-90)agC>agA	p.S30R	PM20D1_ENST00000460624.1_5'UTR	NM_152491.4	NP_689704.4	Q6GTS8	P20D1_HUMAN	peptidase M20 domain containing 1	30						extracellular region	metal ion binding|peptidase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)	28	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0252)			GATGCTCCCCGCTCCTCGGGC	0.602													4	77					0.184627	0.184627	1	1	0	T	205819111	G	T	205819111	3	4	444	1	0	0	0	0	1	0	0	0	12176	1078	38	5	1470	5	PM20D1	1	205819111	Missense_Mutation	SNP	G	TCGA-S9-A7J3-01A-21D-A34J-08	3694373	205819111	43431510	5	35421											
CPSF3	51692	broad.mit.edu	37	2	9607904	9607904	+	Splice_Site	SNP	C	C	T			TCGA-S9-A7J3-01A-21D-A34J-08	TCGA-S9-A7J3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8532359d-7b4d-4556-afdf-2885c7604b66	d3de3deb-2955-44a3-853f-56f22803d4a2	g.chr2:9607904C>T	ENST00000460593.1	+	16	2882	c.1744C>T	c.(1744-1746)Cag>Tag	p.Q582*	CPSF3_ENST00000489403.1_3'UTR|CPSF3_ENST00000238112.3_Splice_Site_p.Q619*			Q9UKF6	CPSF3_HUMAN	cleavage and polyadenylation specific factor 3, 73kDa	619					histone mRNA 3'-end processing|mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex|ribonucleoprotein complex	5'-3' exonuclease activity|endoribonuclease activity|metal ion binding|protein binding|RNA binding			NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)	all_cancers(51;2.39e-25)|all_epithelial(98;8.75e-19)|Lung NSC(108;2.38e-06)|Ovarian(717;0.0308)		all cancers(51;2.2e-40)|Epithelial(75;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(76;4.35e-21)|STAD - Stomach adenocarcinoma(1183;0.00644)		GATCATGCTCCAGTAAGTTTT	0.468													5	56					0	0	1	0	0	T	9607904	C	T	9607904	5	4	444	1	0	0	0	0	0	0	1	0	3849	608	21	2	1917	2	CPSF3	2	9607904	Splice_Site	SNP	C	TCGA-S9-A7J3-01A-21D-A34J-08		9607904	233591469	6	35422											
TTN	7273	broad.mit.edu	37	2	179429186	179429186	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A7J3-01A-21D-A34J-08	TCGA-S9-A7J3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8532359d-7b4d-4556-afdf-2885c7604b66	d3de3deb-2955-44a3-853f-56f22803d4a2	g.chr2:179429186C>T	ENST00000589042.1	-	326	81897	c.81673G>A	c.(81673-81675)Gta>Ata	p.V27225I	TTN_ENST00000460472.2_Missense_Mutation_p.V18160I|TTN_ENST00000342175.6_Missense_Mutation_p.V18352I|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V24657I|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.V25584I|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V18285I|TTN-AS1_ENST00000592689.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	25584	Fibronectin type-III 98.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.V18160I(1)|p.V24657I(1)|p.V18352I(1)|p.V18285I(1)|p.V24655I(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTTTCTAATACGTTGGTAAAG	0.383													3	23					0	0	1	0	0	T	179429186	C	T	179429186	3	4	444	1	0	0	0	0	1	0	0	0	16797	536	19	1	26454	1	TTN	2	179429186	Missense_Mutation	SNP	C	TCGA-S9-A7J3-01A-21D-A34J-08	169821282	179429186	63770187	7	35423											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-S9-A7J3-01A-21D-A34J-08	TCGA-S9-A7J3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8532359d-7b4d-4556-afdf-2885c7604b66	d3de3deb-2955-44a3-853f-56f22803d4a2	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	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								26	70					0	0	1	0	0	T	209113112	C	T	209113112	3	4	444	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-S9-A7J3-01A-21D-A34J-08	29683926	209113112	34086261	8	35424											
TMEM40	55287	broad.mit.edu	37	3	12783983	12783983	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A7J3-01A-21D-A34J-08	TCGA-S9-A7J3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8532359d-7b4d-4556-afdf-2885c7604b66	d3de3deb-2955-44a3-853f-56f22803d4a2	g.chr3:12783983C>T	ENST00000314124.7	-	5	681	c.325G>A	c.(325-327)Gtt>Att	p.V109I	TMEM40_ENST00000264728.8_Missense_Mutation_p.V109I|TMEM40_ENST00000431022.2_Missense_Mutation_p.V125I|TMEM40_ENST00000435575.1_Missense_Mutation_p.V33I|TMEM40_ENST00000435218.2_Missense_Mutation_p.V79I	NM_001284406.1|NM_018306.2	NP_001271335.1|NP_060776.2	Q8WWA1	TMM40_HUMAN	transmembrane protein 40	109						integral to membrane				breast(1)|large_intestine(3)|lung(5)|urinary_tract(1)	10						TCCTTCAAAACGTCAGGCTCC	0.512													5	107					0	0	1	0	0	T	12783983	C	T	12783983	3	4	444	1	0	0	0	0	1	0	0	0	16223	536	19	1	408	1	TMEM40	3	12783983	Missense_Mutation	SNP	C	TCGA-S9-A7J3-01A-21D-A34J-08		12783983	185238447	9	35425											
TMEM40	55287	broad.mit.edu	37	3	12790221	12790221	+	Missense_Mutation	SNP	G	G	T			TCGA-S9-A7J3-01A-21D-A34J-08	TCGA-S9-A7J3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8532359d-7b4d-4556-afdf-2885c7604b66	d3de3deb-2955-44a3-853f-56f22803d4a2	g.chr3:12790221G>T	ENST00000314124.7	-	3	500	c.144C>A	c.(142-144)aaC>aaA	p.N48K	TMEM40_ENST00000264728.8_Missense_Mutation_p.N48K|TMEM40_ENST00000431022.2_Missense_Mutation_p.N64K|TMEM40_ENST00000435575.1_Intron|TMEM40_ENST00000435218.2_Missense_Mutation_p.N48K	NM_001284406.1|NM_018306.2	NP_001271335.1|NP_060776.2	Q8WWA1	TMM40_HUMAN	transmembrane protein 40	48						integral to membrane				breast(1)|large_intestine(3)|lung(5)|urinary_tract(1)	10						aagaagaCTTGTTTCTCTCAT	0.448													47	124					3.76525e-18	4.14177e-18	1	1	0	T	12790221	G	T	12790221	3	4	444	1	0	0	0	0	1	0	0	0	16223	1368	48	5	597	5	TMEM40	3	12790221	Missense_Mutation	SNP	G	TCGA-S9-A7J3-01A-21D-A34J-08	6238	12790221	185232209	10	35426											
AASDH	132949	broad.mit.edu	37	4	57221383	57221383	+	Silent	SNP	A	A	G			TCGA-S9-A7J3-01A-21D-A34J-08	TCGA-S9-A7J3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8532359d-7b4d-4556-afdf-2885c7604b66	d3de3deb-2955-44a3-853f-56f22803d4a2	g.chr4:57221383A>G	ENST00000205214.6	-	6	1248	c.1068T>C	c.(1066-1068)taT>taC	p.Y356Y	AASDH_ENST00000434343.2_5'UTR|AASDH_ENST00000602986.1_Silent_p.Y203Y|AASDH_ENST00000513376.1_Silent_p.Y256Y|AASDH_ENST00000451613.1_Silent_p.Y356Y|AASDH_ENST00000502617.1_Silent_p.Y356Y	NM_181806.2	NP_861522.2	Q4L235	ACSF4_HUMAN	aminoadipate-semialdehyde dehydrogenase	356					fatty acid metabolic process		acid-thiol ligase activity|acyl carrier activity|ATP binding|cofactor binding			endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	40	Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.0017)				CTGGAATCCTATAAATGGTCG	0.368													9	68					0	0	1	0	0	G	57221383	A	G	57221383	2	3	444	1	0	0	0	0	0	0	0	1	22	456	16	3		3	AASDH	4	57221383	Silent	SNP	A	TCGA-S9-A7J3-01A-21D-A34J-08		57221383	133932893	11	35427											
TGFBI	7045	broad.mit.edu	37	5	135383017	135383017	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7J3-01A-21D-A34J-08	TCGA-S9-A7J3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8532359d-7b4d-4556-afdf-2885c7604b66	d3de3deb-2955-44a3-853f-56f22803d4a2	g.chr5:135383017G>A	ENST00000442011.2	+	6	840	c.679G>A	c.(679-681)Ggg>Agg	p.G227R	TGFBI_ENST00000305126.8_Missense_Mutation_p.G227R	NM_000358.2	NP_000349.1	Q15582	BGH3_HUMAN	transforming growth factor, beta-induced, 68kDa	227	FAS1 1.				angiogenesis|cell adhesion|cell proliferation|negative regulation of cell adhesion|response to stimulus|visual perception	extracellular space|proteinaceous extracellular matrix	integrin binding			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TGCAACCAACGGGGTGGTGCA	0.532													4	152					0	0	1	0	0	A	135383017	G	A	135383017	3	1	444	1	0	0	0	0	1	0	0	0	15880	1116	39	1	701	1	TGFBI	5	135383017	Missense_Mutation	SNP	G	TCGA-S9-A7J3-01A-21D-A34J-08		135383017	45532243	12	35428											
KDM3B	51780	broad.mit.edu	37	5	137721798	137721798	+	Missense_Mutation	SNP	G	G	T			TCGA-S9-A7J3-01A-21D-A34J-08	TCGA-S9-A7J3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8532359d-7b4d-4556-afdf-2885c7604b66	d3de3deb-2955-44a3-853f-56f22803d4a2	g.chr5:137721798G>T	ENST00000314358.5	+	7	1068	c.868G>T	c.(868-870)Gct>Tct	p.A290S		NM_016604.3	NP_057688	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	290					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						GAGGAAAAGTGCTTCGGACTC	0.483													4	76					0.150653	0.153443	1	1	0	T	137721798	G	T	137721798	3	4	444	1	0	0	0	0	1	0	0	0	8171	1319	46	5	894	5	KDM3B	5	137721798	Missense_Mutation	SNP	G	TCGA-S9-A7J3-01A-21D-A34J-08	2338781	137721798	43193462	13	35429											
RBM27	54439	broad.mit.edu	37	5	145610427	145610427	+	Frame_Shift_Del	DEL	C	C	-			TCGA-S9-A7J3-01A-21D-A34J-08	TCGA-S9-A7J3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8532359d-7b4d-4556-afdf-2885c7604b66	d3de3deb-2955-44a3-853f-56f22803d4a2	g.chr5:145610427delC	ENST00000265271.5	+	6	963	c.797delC	c.(796-798)tccfs	p.S266fs	RBM27_ENST00000506502.1_Frame_Shift_Del_p.S266fs	NM_018989.1	NP_061862.1	Q9P2N5	RBM27_HUMAN	RNA binding motif protein 27	266					mRNA processing	cytoplasm|nuclear speck	nucleotide binding|RNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(3)|endometrium(4)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CATAGCTCTTCCAATTCTTTT	0.423													20	80	---	---	---	---						-	145610427	C	-	145610427	7	5	444	1	0	1	0	1	0	0	0	0	13179	855	30	0	819	0	RBM27	5	145610427	Frame_Shift_Del	DEL	C	TCGA-S9-A7J3-01A-21D-A34J-08	7888629	145610427	35304833	14	35430											
CRISP1	167	broad.mit.edu	37	6	49814267	49814267	+	Missense_Mutation	SNP	G	G	A	rs139194307	byFrequency	TCGA-S9-A7J3-01A-21D-A34J-08	TCGA-S9-A7J3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8532359d-7b4d-4556-afdf-2885c7604b66	d3de3deb-2955-44a3-853f-56f22803d4a2	g.chr6:49814267G>A	ENST00000335847.4	-	5	502	c.401C>T	c.(400-402)aCg>aTg	p.T134M	CRISP1_ENST00000505118.1_Missense_Mutation_p.T134M|CRISP1_ENST00000507853.1_Missense_Mutation_p.T134M|CRISP1_ENST00000355791.2_Missense_Mutation_p.T134M|CRISP1_ENST00000536021.1_Missense_Mutation_p.T134M|CRISP1_ENST00000329411.5_Missense_Mutation_p.T134M	NM_001131.2	NP_001122.2	P54107	CRIS1_HUMAN	cysteine-rich secretory protein 1	134					fusion of sperm to egg plasma membrane	extracellular space				endometrium(1)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|upper_aerodigestive_tract(1)	27	Lung NSC(77;0.0358)					GTCATCATCCGTTGTTGTCCA	0.398													4	86					0	0	1	0	0	A	49814267	G	A	49814267	3	1	444	1	0	0	0	0	1	0	0	0	3902	1145	40	1	364	1	CRISP1	6	49814267	Missense_Mutation	SNP	G	TCGA-S9-A7J3-01A-21D-A34J-08		49814267	121300800	15	35431											
SYNJ2	8871	broad.mit.edu	37	6	158454620	158454620	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A7J3-01A-21D-A34J-08	TCGA-S9-A7J3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8532359d-7b4d-4556-afdf-2885c7604b66	d3de3deb-2955-44a3-853f-56f22803d4a2	g.chr6:158454620T>C	ENST00000355585.4	+	4	694	c.619T>C	c.(619-621)Tct>Cct	p.S207P	SYNJ2_ENST00000367122.2_Missense_Mutation_p.S207P|SYNJ2_ENST00000367121.3_Missense_Mutation_p.S207P|SYNJ2_ENST00000449859.2_Missense_Mutation_p.S156P	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	207	SAC.						nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		CTGCCTCGTCTCTCGCGTTAG	0.622													4	53					0	0	1	0	0	C	158454620	T	C	158454620	3	2	444	1	0	0	0	0	1	0	0	0	15510	1551	54	3	633	3	SYNJ2	6	158454620	Missense_Mutation	SNP	T	TCGA-S9-A7J3-01A-21D-A34J-08	108640353	158454620	12660447	16	35432											
MCM7	4176	broad.mit.edu	37	7	99697242	99697242	+	Silent	SNP	T	T	C			TCGA-S9-A7J3-01A-21D-A34J-08	TCGA-S9-A7J3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8532359d-7b4d-4556-afdf-2885c7604b66	d3de3deb-2955-44a3-853f-56f22803d4a2	g.chr7:99697242T>C	ENST00000303887.5	-	3	891	c.246A>G	c.(244-246)caA>caG	p.Q82Q	MCM7_ENST00000354230.3_5'UTR|MCM7_ENST00000343023.6_Silent_p.Q82Q	NM_005916.3	NP_005907.3	P33993	MCM7_HUMAN	minichromosome maintenance complex component 7	82					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of phosphorylation|response to DNA damage stimulus|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|protein binding			endometrium(1)|kidney(5)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	17	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)				Atorvastatin(DB01076)	GCAGCAGCTCTTGTACGGCAT	0.532													43	69					0	0	1	0	0	C	99697242	T	C	99697242	2	2	444	1	0	0	0	0	0	0	0	1	9442	1606	56	3		3	MCM7	7	99697242	Silent	SNP	T	TCGA-S9-A7J3-01A-21D-A34J-08		99697242	59441421	17	35433											
RNF19A	25897	broad.mit.edu	37	8	101287223	101287223	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7J3-01A-21D-A34J-08	TCGA-S9-A7J3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8532359d-7b4d-4556-afdf-2885c7604b66	d3de3deb-2955-44a3-853f-56f22803d4a2	g.chr8:101287223G>A	ENST00000519449.1	-	4	1157	c.841C>T	c.(841-843)Cgt>Tgt	p.R281C	RNF19A_ENST00000341084.2_Missense_Mutation_p.R281C	NM_001280539.1|NM_015435.3	NP_001267468.1|NP_056250.3	Q9NV58	RN19A_HUMAN	ring finger protein 19A, RBR E3 ubiquitin protein ligase	281					microtubule cytoskeleton organization|protein modification process	centrosome|integral to membrane	ligase activity|transcription factor binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	30	all_cancers(14;3.5e-05)|all_epithelial(15;8.91e-08)|Lung NSC(17;0.000615)|all_lung(17;0.00166)		Epithelial(11;3.06e-11)|all cancers(13;5.78e-09)|OV - Ovarian serous cystadenocarcinoma(57;2.24e-05)|STAD - Stomach adenocarcinoma(118;0.0525)			GATGAAGAACGTATAGTTCTC	0.378													46	79					0	0	1	0	0	A	101287223	G	A	101287223	3	1	444	1	0	0	0	0	1	0	0	0	13522	1145	40	1	1707	1	RNF19A	8	101287223	Missense_Mutation	SNP	G	TCGA-S9-A7J3-01A-21D-A34J-08		101287223	45076799	18	35434											
USP54	159195	broad.mit.edu	37	10	75260418	75260418	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A7J3-01A-21D-A34J-08	TCGA-S9-A7J3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8532359d-7b4d-4556-afdf-2885c7604b66	d3de3deb-2955-44a3-853f-56f22803d4a2	g.chr10:75260418A>G	ENST00000339859.4	-	22	4590	c.4490T>C	c.(4489-4491)cTc>cCc	p.L1497P	RP11-137L10.6_ENST00000595935.1_RNA|USP54_ENST00000428547.1_Missense_Mutation_p.L1347P|USP54_ENST00000408019.1_Missense_Mutation_p.L1497P|RP11-137L10.6_ENST00000597958.1_RNA|RP11-137L10.6_ENST00000600607.1_RNA|RP11-137L10.6_ENST00000593790.1_RNA|USP54_ENST00000497106.1_5'UTR|USP54_ENST00000422491.2_Missense_Mutation_p.L632P|RP11-137L10.6_ENST00000595069.1_RNA|RP11-137L10.6_ENST00000442133.4_RNA|USP54_ENST00000394811.2_Missense_Mutation_p.L538P|RP11-137L10.6_ENST00000596320.1_RNA|RP11-137L10.6_ENST00000600206.1_RNA			Q70EL1	UBP54_HUMAN	ubiquitin specific peptidase 54	1497					ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity			breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	30	Prostate(51;0.0112)					GTTACCTGGGAGTCTATTGGG	0.522													16	52					0	0	1	0	0	G	75260418	A	G	75260418	3	3	444	1	0	0	0	0	1	0	0	0	17145	304	11	3	572	3	USP54	10	75260418	Missense_Mutation	SNP	A	TCGA-S9-A7J3-01A-21D-A34J-08		75260418	60274329	19	35435											
AHNAK	79026	broad.mit.edu	37	11	62301031	62301031	+	Silent	SNP	A	A	G			TCGA-S9-A7J3-01A-21D-A34J-08	TCGA-S9-A7J3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8532359d-7b4d-4556-afdf-2885c7604b66	d3de3deb-2955-44a3-853f-56f22803d4a2	g.chr11:62301031A>G	ENST00000378024.4	-	5	1132	c.858T>C	c.(856-858)ggT>ggC	p.G286G	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	286					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CTACTGCCCTACCCCCAAGAG	0.517													32	60					0	0	1	0	0	G	62301031	A	G	62301031	2	3	444	1	0	0	0	0	0	0	0	1	411	378	14	3		3	AHNAK	11	62301031	Silent	SNP	A	TCGA-S9-A7J3-01A-21D-A34J-08		62301031	72705485	20	35436											
LRRN4CL	221091	broad.mit.edu	37	11	62455807	62455807	+	Silent	SNP	C	C	T			TCGA-S9-A7J3-01A-21D-A34J-08	TCGA-S9-A7J3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8532359d-7b4d-4556-afdf-2885c7604b66	d3de3deb-2955-44a3-853f-56f22803d4a2	g.chr11:62455807C>T	ENST00000317449.4	-	2	651	c.174G>A	c.(172-174)gtG>gtA	p.V58V		NM_203422.2	NP_981967.1	Q8ND94	LRN4L_HUMAN	LRRN4 C-terminal like	58						integral to membrane				cervix(1)|kidney(1)	2						CCTTGCAGGGCACCTGCAGGT	0.682													7	24					0	0	1	0	0	T	62455807	C	T	62455807	2	4	444	1	0	0	0	0	0	0	0	1	9083	697	25	2		2	LRRN4CL	11	62455807	Silent	SNP	C	TCGA-S9-A7J3-01A-21D-A34J-08	154776	62455807	72550709	21	35437											
LARP4	113251	broad.mit.edu	37	12	50860853	50860853	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7J3-01A-21D-A34J-08	TCGA-S9-A7J3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8532359d-7b4d-4556-afdf-2885c7604b66	d3de3deb-2955-44a3-853f-56f22803d4a2	g.chr12:50860853G>A	ENST00000398473.2	+	13	1607	c.1495G>A	c.(1495-1497)Gtt>Att	p.V499I	LARP4_ENST00000429001.3_Missense_Mutation_p.V505I|LARP4_ENST00000518444.1_Missense_Mutation_p.V498I|LARP4_ENST00000347328.5_Missense_Mutation_p.V428I|LARP4_ENST00000293618.8_Missense_Mutation_p.V428I	NM_052879.4|NM_199188.2	NP_443111.4|NP_954658.2	Q71RC2	LARP4_HUMAN	La ribonucleoprotein domain family, member 4	499							nucleotide binding|RNA binding			breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	23						AGGTGAACTCGTTTTGGAGAA	0.393													4	60					0	0	1	0	0	A	50860853	G	A	50860853	3	1	444	1	0	0	0	0	1	0	0	0	8669	1145	40	1	1549	1	LARP4	12	50860853	Missense_Mutation	SNP	G	TCGA-S9-A7J3-01A-21D-A34J-08		50860853	82991042	22	35438											
PRMT5	10419	broad.mit.edu	37	14	23395463	23395463	+	Missense_Mutation	SNP	T	T	G			TCGA-S9-A7J3-01A-21D-A34J-08	TCGA-S9-A7J3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8532359d-7b4d-4556-afdf-2885c7604b66	d3de3deb-2955-44a3-853f-56f22803d4a2	g.chr14:23395463T>G	ENST00000324366.8	-	7	879	c.656A>C	c.(655-657)gAt>gCt	p.D219A	PRMT5_ENST00000397441.2_Missense_Mutation_p.D202A|PRMT5-AS1_ENST00000587245.2_RNA|PRMT5_ENST00000553641.1_5'UTR|PRMT5_ENST00000538452.1_Missense_Mutation_p.D113A|PRMT5-AS1_ENST00000595662.1_RNA|PRMT5_ENST00000397440.4_Intron|PRMT5-AS1_ENST00000590290.1_RNA|PRMT5-AS1_ENST00000599580.2_RNA|PRMT5_ENST00000216350.8_Missense_Mutation_p.D158A|PRMT5_ENST00000553897.1_Missense_Mutation_p.D175A	NM_006109.3	NP_006100.2	O14744	ANM5_HUMAN	protein arginine methyltransferase 5	219					cell proliferation|histone H4-R3 methylation|ncRNA metabolic process|regulation of mitosis|spliceosomal snRNP assembly|transcription, DNA-dependent	cytosol|nucleus	histone-arginine N-methyltransferase activity|protein binding|protein-arginine omega-N symmetric methyltransferase activity|ribonucleoprotein binding			endometrium(4)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	25	all_cancers(95;2.76e-05)			GBM - Glioblastoma multiforme(265;0.0126)		AAGCCAGCGATCAATGACATG	0.478													4	84					0	0	1	0	0	G	23395463	T	G	23395463	3	3	444	1	0	0	0	0	1	0	0	0	12591	1435	50	4	1301	4	PRMT5	14	23395463	Missense_Mutation	SNP	T	TCGA-S9-A7J3-01A-21D-A34J-08		23395463	83954077	23	35439											
DDX24	57062	broad.mit.edu	37	14	94545908	94545908	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7J3-01A-21D-A34J-08	TCGA-S9-A7J3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8532359d-7b4d-4556-afdf-2885c7604b66	d3de3deb-2955-44a3-853f-56f22803d4a2	g.chr14:94545908G>A	ENST00000330836.5	-	2	312	c.181C>T	c.(181-183)Cct>Tct	p.P61S	DDX24_ENST00000544005.1_Intron|DDX24_ENST00000555054.1_Missense_Mutation_p.P18S	NM_020414.3	NP_065147.1	Q9GZR7	DDX24_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 24	61					RNA metabolic process	cytoplasm|nucleolus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			cervix(3)|endometrium(4)|kidney(4)|large_intestine(5)|lung(3)|ovary(2)|skin(1)|urinary_tract(1)	23		all_cancers(154;0.12)		Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207)		TTCTTGGCAGGGGAGACCAAC	0.468													5	148					0	0	1	0	0	A	94545908	G	A	94545908	3	1	444	1	0	0	0	0	1	0	0	0	4374	1232	43	2	2430	2	DDX24	14	94545908	Missense_Mutation	SNP	G	TCGA-S9-A7J3-01A-21D-A34J-08	71150445	94545908	12803632	24	35440											
SERPINA4	5267	broad.mit.edu	37	14	95035850	95035850	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7J3-01A-21D-A34J-08	TCGA-S9-A7J3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8532359d-7b4d-4556-afdf-2885c7604b66	d3de3deb-2955-44a3-853f-56f22803d4a2	g.chr14:95035850G>A	ENST00000557004.1	+	5	1623	c.1202G>A	c.(1201-1203)cGg>cAg	p.R401Q	SERPINA4_ENST00000298841.5_Missense_Mutation_p.R401Q|SERPINA5_ENST00000553780.1_Intron|SERPINA4_ENST00000555095.1_Missense_Mutation_p.R401Q			P29622	KAIN_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4	401					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(28)|ovary(3)|skin(1)|urinary_tract(1)	46				COAD - Colon adenocarcinoma(157;0.211)		CGATTCAACCGGCCCTTCCTT	0.587													8	69					0	0	1	0	0	A	95035850	G	A	95035850	3	1	444	1	0	0	0	0	1	0	0	0	14145	1116	39	1	1216	1	SERPINA4	14	95035850	Missense_Mutation	SNP	G	TCGA-S9-A7J3-01A-21D-A34J-08	489942	95035850	12313690	25	35441											
KIF26A	26153	broad.mit.edu	37	14	104638942	104638942	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7J3-01A-21D-A34J-08	TCGA-S9-A7J3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8532359d-7b4d-4556-afdf-2885c7604b66	d3de3deb-2955-44a3-853f-56f22803d4a2	g.chr14:104638942G>A	ENST00000315264.7	+	6	1318	c.940G>A	c.(940-942)Gtg>Atg	p.V314M	KIF26A_ENST00000423312.2_Missense_Mutation_p.V453M			Q9ULI4	KI26A_HUMAN	kinesin family member 26A	453					blood coagulation|enteric nervous system development|microtubule-based movement|negative regulation of signal transduction|regulation of cell growth by extracellular stimulus	cytosol|microtubule	ATP binding|microtubule binding|microtubule motor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)		CGTGGCCGACGTGCTCCAGTC	0.642													4	63					0	0	1	0	0	A	104638942	G	A	104638942	3	1	444	1	0	0	0	0	1	0	0	0	8336	1145	40	1	1383	1	KIF26A	14	104638942	Missense_Mutation	SNP	G	TCGA-S9-A7J3-01A-21D-A34J-08	9603092	104638942	2710598	26	35442											
CEP152	22995	broad.mit.edu	37	15	49031241	49031241	+	Silent	SNP	C	C	T			TCGA-S9-A7J3-01A-21D-A34J-08	TCGA-S9-A7J3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8532359d-7b4d-4556-afdf-2885c7604b66	d3de3deb-2955-44a3-853f-56f22803d4a2	g.chr15:49031241C>T	ENST00000380950.2	-	27	4525	c.4338G>A	c.(4336-4338)ggG>ggA	p.G1446G	CEP152_ENST00000399334.3_Silent_p.G1390G	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	1390					centrosome duplication|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein kinase binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		AACTACCATCCCCAAACTGGA	0.448													11	115					0	0	1	0	0	T	49031241	C	T	49031241	2	4	444	1	0	0	0	0	0	0	0	1	3270	610	22	2		2	CEP152	15	49031241	Silent	SNP	C	TCGA-S9-A7J3-01A-21D-A34J-08		49031241	53500151	27	35443											
USP6	9098	broad.mit.edu	37	17	5039171	5039171	+	Silent	SNP	C	C	T			TCGA-S9-A7J3-01A-21D-A34J-08	TCGA-S9-A7J3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8532359d-7b4d-4556-afdf-2885c7604b66	d3de3deb-2955-44a3-853f-56f22803d4a2	g.chr17:5039171C>T	ENST00000574788.1	+	17	2842	c.612C>T	c.(610-612)gaC>gaT	p.D204D	USP6_ENST00000304328.5_5'UTR|USP6_ENST00000332776.4_Silent_p.D204D|USP6_ENST00000250066.6_Silent_p.D204D			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6 (Tre-2 oncogene)	204	Rab-GAP TBC.				protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						CTGAGGAGGACGCATTCTGGG	0.617			T	"COL1A1, CDH11, ZNF9, OMD"	aneurysmal bone cysts								6	66					0	0	1	0	0	T	5039171	C	T	5039171	2	4	444	1	0	0	0	0	0	0	0	1	17146	535	19	1		1	USP6	17	5039171	Silent	SNP	C	TCGA-S9-A7J3-01A-21D-A34J-08		5039171	76156039	28	35444											
RABEP1	9135	broad.mit.edu	37	17	5250214	5250214	+	Missense_Mutation	SNP	C	C	A			TCGA-S9-A7J3-01A-21D-A34J-08	TCGA-S9-A7J3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8532359d-7b4d-4556-afdf-2885c7604b66	d3de3deb-2955-44a3-853f-56f22803d4a2	g.chr17:5250214C>A	ENST00000262477.6	+	6	1002	c.778C>A	c.(778-780)Cat>Aat	p.H260N	RABEP1_ENST00000341923.6_Missense_Mutation_p.H260N|RABEP1_ENST00000537505.1_Missense_Mutation_p.H217N|RABEP1_ENST00000546142.2_Missense_Mutation_p.H260N|RABEP1_ENST00000408982.2_Missense_Mutation_p.H260N	NM_004703.4	NP_004694.2	Q15276	RABE1_HUMAN	rabaptin, RAB GTPase binding effector protein 1	260					apoptosis|cellular membrane fusion|endocytosis|protein transport	centrosome|early endosome|endocytic vesicle|recycling endosome	growth factor activity|GTPase activator activity|protein homodimerization activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	8						GAAAGAATTGCATGAAGGTAA	0.308													3	47					0.00909568	0.00943891	1	1	0	A	5250214	C	A	5250214	3	1	444	1	0	0	0	0	1	0	0	0	13013	710	25	5	800	5	RABEP1	17	5250214	Missense_Mutation	SNP	C	TCGA-S9-A7J3-01A-21D-A34J-08	211043	5250214	75944996	29	35445											
NTN1	9423	broad.mit.edu	37	17	9083253	9083253	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A7J3-01A-21D-A34J-08	TCGA-S9-A7J3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8532359d-7b4d-4556-afdf-2885c7604b66	d3de3deb-2955-44a3-853f-56f22803d4a2	g.chr17:9083253C>T	ENST00000173229.2	+	4	1444	c.1337C>T	c.(1336-1338)tCt>tTt	p.S446F	NTN1_ENST00000546090.1_Missense_Mutation_p.S446F|NTN1_ENST00000538852.1_Missense_Mutation_p.S446F	NM_004822.2	NP_004813.2	O95631	NET1_HUMAN	netrin 1	446	Laminin EGF-like 3.				apoptosis|axon guidance		protein binding		NTN1/ACLY(2)	central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(5)	13						CAGAGCCGCTCTCCCATCGCC	0.582													5	52					0	0	1	0	0	T	9083253	C	T	9083253	3	4	444	1	0	0	0	0	1	0	0	0	10748	913	32	2	1347	2	NTN1	17	9083253	Missense_Mutation	SNP	C	TCGA-S9-A7J3-01A-21D-A34J-08	3833039	9083253	72111957	30	35446											
CIC	23152	broad.mit.edu	37	19	42791757	42791757	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A7J3-01A-21D-A34J-08	TCGA-S9-A7J3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8532359d-7b4d-4556-afdf-2885c7604b66	d3de3deb-2955-44a3-853f-56f22803d4a2	g.chr19:42791757C>T	ENST00000572681.2	+	6	3438	c.3370C>T	c.(3370-3372)Cgg>Tgg	p.R1124W	CIC_ENST00000575354.2_Missense_Mutation_p.R215W|CIC_ENST00000160740.3_Missense_Mutation_p.R215W			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	215	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	p.R215W(4)		autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CAAGCGGCACCGGGCCCTGGT	0.612			"Mis, F, S"		oligodendroglioma								15	19					0	0	1	0	0	T	42791757	C	T	42791757	3	4	444	1	0	0	0	0	1	0	0	0	3446	643	23	1	661	1	CIC	19	42791757	Missense_Mutation	SNP	C	TCGA-S9-A7J3-01A-21D-A34J-08		42791757	16337226	31	35447											
ZNF334	55713	broad.mit.edu	37	20	45131690	45131691	+	Frame_Shift_Del	DEL	AT	AT	-			TCGA-S9-A7J3-01A-21D-A34J-08	TCGA-S9-A7J3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8532359d-7b4d-4556-afdf-2885c7604b66	d3de3deb-2955-44a3-853f-56f22803d4a2	g.chr20:45131690_45131691delAT	ENST00000457685.2	-	6	1496_1497	c.173_174delAT	c.(172-174)catfs	p.H58fs	ZNF334_ENST00000347606.4_Frame_Shift_Del_p.H96fs|ZNF334_ENST00000593880.1_Frame_Shift_Del_p.H119fs			Q9HCZ1	ZN334_HUMAN	zinc finger protein 334	96	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)				TTTGTGTCAAATGTTTATCTTG	0.351													27	33	---	---	---	---						-	45131691	AT	-	45131690	7	5	444	1	0	1	0	1	0	0	0	0	17908	98	4	0	1758	0	ZNF334	20	45131690	Frame_Shift_Del	DEL	AT	TCGA-S9-A7J3-01A-21D-A34J-08		45131690	17893830	32	35448											
TPTE	7179	broad.mit.edu	37	21	10970009	10970009	+	Splice_Site	SNP	C	C	G			TCGA-S9-A7J3-01A-21D-A34J-08	TCGA-S9-A7J3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8532359d-7b4d-4556-afdf-2885c7604b66	d3de3deb-2955-44a3-853f-56f22803d4a2	g.chr21:10970009C>G	ENST00000298232.7	-	6	486	c.119G>C	c.(118-120)aGt>aCt	p.S40T	TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000361285.4_Splice_Site_p.S40T|TPTE_ENST00000342420.5_Splice_Site_p.S40T	NM_199259.2	NP_954868	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	40					signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			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)		TATTGCTCACCTTTCTTTCGC	0.438													15	92					0	0	1	0	0	G	10970009	C	G	10970009	5	3	444	1	0	0	0	0	0	0	1	0	16491	695	24	4	1612	4	TPTE	21	10970009	Splice_Site	SNP	C	TCGA-S9-A7J3-01A-21D-A34J-08		10970009	37159886	33	35449											
U2AF1	7307	broad.mit.edu	37	21	44514659	44514661	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-S9-A7J3-01A-21D-A34J-08	TCGA-S9-A7J3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8532359d-7b4d-4556-afdf-2885c7604b66	d3de3deb-2955-44a3-853f-56f22803d4a2	g.chr21:44514659_44514661delCCT	ENST00000459639.1	-	6	1300_1302	c.276_278delAGG	c.(274-279)cgaggc>cgc	p.G94del	U2AF1_ENST00000398137.1_In_Frame_Del_p.G94del|U2AF1_ENST00000380276.2_In_Frame_Del_p.G167del|U2AF1_ENST00000486519.1_5'UTR|U2AF1_ENST00000291552.4_In_Frame_Del_p.G167del			Q01081	U2AF1_HUMAN	U2 small nuclear RNA auxiliary factor 1	167	RRM.				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	Cajal body|catalytic step 2 spliceosome|nuclear speck	nucleotide binding|RNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(111)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	126						GCAGAAGCCGCCTCGTGTGCATT	0.571			Mis		"CLL, MDS"								8	63	---	---	---	---						-	44514661	CCT	-	44514659	7	5	444	1	0	1	0	1	0	0	0	0	16882	739	26	0	233	0	U2AF1	21	44514659	In_Frame_Del	DEL	CCT	TCGA-S9-A7J3-01A-21D-A34J-08	33544650	44514659	3615236	34	35450											
BMX	660	broad.mit.edu	37	X	15561245	15561245	+	Missense_Mutation	SNP	T	T	A			TCGA-S9-A7J3-01A-21D-A34J-08	TCGA-S9-A7J3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8532359d-7b4d-4556-afdf-2885c7604b66	d3de3deb-2955-44a3-853f-56f22803d4a2	g.chrX:15561245T>A	ENST00000357607.2	+	16	1851	c.1663T>A	c.(1663-1665)Ttt>Att	p.F555I	BMX_ENST00000348343.6_Missense_Mutation_p.F555I|BMX_ENST00000342014.6_Missense_Mutation_p.F555I			P51813	BMX_HUMAN	BMX non-receptor tyrosine kinase	555	Protein kinase.				cellular component disassembly involved in apoptosis|intracellular signal transduction|mesoderm development	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding|signal transducer activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(14)|ovary(2)|urinary_tract(3)	30	Hepatocellular(33;0.183)					AGTATCTGACTTTGGAATGAC	0.418													31	115					0	0	1	0	0	A	15561245	T	A	15561245	3	1	444	1	0	0	0	0	1	0	0	0	1472	1609	56	5	1721	5	BMX	23	15561245	Missense_Mutation	SNP	T	TCGA-S9-A7J3-01A-21D-A34J-08		15561245	139709315	35	35451											
FAM47C	442444	broad.mit.edu	37	X	37028425	37028425	+	Missense_Mutation	SNP	A	A	G	rs145580328	byFrequency	TCGA-S9-A7J3-01A-21D-A34J-08	TCGA-S9-A7J3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8532359d-7b4d-4556-afdf-2885c7604b66	d3de3deb-2955-44a3-853f-56f22803d4a2	g.chrX:37028425A>G	ENST00000358047.3	+	1	1994	c.1942A>G	c.(1942-1944)Aat>Gat	p.N648D		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	648								p.N648D(7)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						GGAGCCTCCCAATACTGGAGT	0.642													4	129					0	0	1	0	0	G	37028425	A	G	37028425	3	3	444	1	0	0	0	0	1	0	0	0	5607	130	5	3	1944	3	FAM47C	23	37028425	Missense_Mutation	SNP	A	TCGA-S9-A7J3-01A-21D-A34J-08	21467180	37028425	118242135	36	35452											
EFHC2	80258	broad.mit.edu	37	X	44109649	44109649	+	Missense_Mutation	SNP	C	C	G			TCGA-S9-A7J3-01A-21D-A34J-08	TCGA-S9-A7J3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8532359d-7b4d-4556-afdf-2885c7604b66	d3de3deb-2955-44a3-853f-56f22803d4a2	g.chrX:44109649C>G	ENST00000420999.1	-	5	732	c.649G>C	c.(649-651)Gac>Cac	p.D217H		NM_025184.3	NP_079460.2	Q5JST6	EFHC2_HUMAN	EF-hand domain (C-terminal) containing 2	217							calcium ion binding			NS(1)|breast(7)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	29						TTCAGGGTGTCGAGGGATTCG	0.438													6	33					0	0	1	0	0	G	44109649	C	G	44109649	3	3	444	1	0	0	0	0	1	0	0	0	4973	884	31	5	1644	5	EFHC2	23	44109649	Missense_Mutation	SNP	C	TCGA-S9-A7J3-01A-21D-A34J-08	7081224	44109649	111160911	37	35453											
RGAG1	57529	broad.mit.edu	37	X	109695424	109695424	+	Missense_Mutation	SNP	C	C	A			TCGA-S9-A7J3-01A-21D-A34J-08	TCGA-S9-A7J3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8532359d-7b4d-4556-afdf-2885c7604b66	d3de3deb-2955-44a3-853f-56f22803d4a2	g.chrX:109695424C>A	ENST00000465301.2	+	3	1825	c.1579C>A	c.(1579-1581)Caa>Aaa	p.Q527K	RGAG1_ENST00000540313.1_Missense_Mutation_p.Q527K	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	527										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						GTCCATGCCACAATTGACAGT	0.522													5	229					8.12818e-05	8.59712e-05	1	1	0	A	109695424	C	A	109695424	3	1	444	1	0	0	0	0	1	0	0	0	13326	479	17	5	1581	5	RGAG1	23	109695424	Missense_Mutation	SNP	C	TCGA-S9-A7J3-01A-21D-A34J-08	65585775	109695424	45575136	38	35454											
ALG13	79868	broad.mit.edu	37	X	110988026	110988026	+	Frame_Shift_Del	DEL	T	T	-			TCGA-S9-A7J3-01A-21D-A34J-08	TCGA-S9-A7J3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8532359d-7b4d-4556-afdf-2885c7604b66	d3de3deb-2955-44a3-853f-56f22803d4a2	g.chrX:110988026delT	ENST00000394780.3	+	24	2838	c.2826delT	c.(2824-2826)cctfs	p.P945fs	ALG13_ENST00000470971.1_3'UTR|ALG13_ENST00000251943.4_Intron	NM_001099922.2|NM_001257231.1	NP_001093392.1|NP_001244160.1	Q9NP73	ALG13_HUMAN	ALG13, UDP-N-acetylglucosaminyltransferase subunit	945	Pro-rich.				dolichol-linked oligosaccharide biosynthetic process|lipid glycosylation|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane	carbohydrate binding|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity			endometrium(2)|lung(10)|skin(1)	13						ctcctcctcctcctcctcctg	0.572													2	4	---	---	---	---						-	110988026	T	-	110988026	7	5	444	1	0	1	0	1	0	0	0	0	512	1538	54	0	3062	0	ALG13	23	110988026	Frame_Shift_Del	DEL	T	TCGA-S9-A7J3-01A-21D-A34J-08	1292602	110988026	44282534	39	35455											
ELF4	2000	broad.mit.edu	37	X	129203477	129203477	+	Nonsense_Mutation	SNP	G	G	A			TCGA-S9-A7J3-01A-21D-A34J-08	TCGA-S9-A7J3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8532359d-7b4d-4556-afdf-2885c7604b66	d3de3deb-2955-44a3-853f-56f22803d4a2	g.chrX:129203477G>A	ENST00000308167.5	-	8	1364	c.985C>T	c.(985-987)Cga>Tga	p.R329*	ELF4_ENST00000335997.7_Nonsense_Mutation_p.R329*	NM_001421.3	NP_001412.1	Q99607	ELF4_HUMAN	E74-like factor 4 (ets domain transcription factor)	329					natural killer cell proliferation|NK T cell proliferation|positive regulation of transcription from RNA polymerase II promoter	PML body	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	22						GAGCTGGTTCGCCGGGTGGTA	0.612			T	ERG	AML								7	124					0	0	1	0	0	A	129203477	G	A	129203477	4	1	444	1	0	0	0	0	0	1	0	0	5084	1095	38	1	1014	1	ELF4	23	129203477	Nonsense_Mutation	SNP	G	TCGA-S9-A7J3-01A-21D-A34J-08	18215451	129203477	26067083	40	35456											
VPS13D	55187	broad.mit.edu	37	1	12557680	12557680	+	Silent	SNP	C	C	T			TCGA-S9-A7QW-01A-11D-A34A-08	TCGA-S9-A7QW-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd3bb08-b9cb-493c-a634-6d10d975f62f	e5d478a9-7b9f-4b05-9cb0-01d860c3b005	g.chr1:12557680C>T	ENST00000358136.3	+	68	12919	c.12789C>T	c.(12787-12789)gaC>gaT	p.D4263D	VPS13D_ENST00000356315.4_Silent_p.D4238D|VPS13D_ENST00000543766.1_Silent_p.D261D|VPS13D_ENST00000471923.1_5'UTR|VPS13D_ENST00000496628.1_3'UTR|VPS13D_ENST00000543710.1_Silent_p.D67D	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	4262					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		ACATACAGGACGAATTGTAAG	0.517													19	31					0	0	1	0	0	T	12557680	C	T	12557680	2	4	445	1	0	0	0	0	0	0	0	1	17252	535	19	1		1	VPS13D	1	12557680	Silent	SNP	C	TCGA-S9-A7QW-01A-11D-A34A-08		12557680	236692941	1	35457											
TXNDC12	51060	broad.mit.edu	37	1	52507235	52507235	+	Silent	SNP	T	T	C			TCGA-S9-A7QW-01A-11D-A34A-08	TCGA-S9-A7QW-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd3bb08-b9cb-493c-a634-6d10d975f62f	e5d478a9-7b9f-4b05-9cb0-01d860c3b005	g.chr1:52507235T>C	ENST00000371626.4	-	2	1206	c.132A>G	c.(130-132)gaA>gaG	p.E44E	TXNDC12_ENST00000610127.1_Silent_p.E44E|RP11-91A18.4_ENST00000425802.1_RNA	NM_015913.3	NP_056997.1	O95831	AIFM1_HUMAN	thioredoxin domain containing 12 (endoplasmic reticulum)	384					activation of caspase activity|apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change	cytosol|mitochondrial inner membrane|mitochondrial intermembrane space|nucleus|perinuclear region of cytoplasm	DNA binding|electron carrier activity|flavin adenine dinucleotide binding|oxidoreductase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	7						TCTTCCCATCTTCCAGTGTCC	0.398													30	34					0	0	1	0	0	C	52507235	T	C	52507235	2	2	445	1	0	0	0	0	0	0	0	1	16855	1606	56	3		3	TXNDC12	1	52507235	Silent	SNP	T	TCGA-S9-A7QW-01A-11D-A34A-08	39949555	52507235	196743386	2	35458											
WDR78	79819	broad.mit.edu	37	1	67292589	67292589	+	Silent	SNP	G	G	A			TCGA-S9-A7QW-01A-11D-A34A-08	TCGA-S9-A7QW-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd3bb08-b9cb-493c-a634-6d10d975f62f	e5d478a9-7b9f-4b05-9cb0-01d860c3b005	g.chr1:67292589G>A	ENST00000371026.3	-	15	2308	c.2253C>T	c.(2251-2253)taC>taT	p.Y751Y	WDR78_ENST00000431318.1_Silent_p.Y464Y	NM_024763.4	NP_079039.4	Q5VTH9	WDR78_HUMAN	WD repeat domain 78	751								p.Y751Y(1)		NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3)	32						AGGCAACGTCGTAAACAACAG	0.393													58	48					0	0	1	0	0	A	67292589	G	A	67292589	2	1	445	1	0	0	0	0	0	0	0	1	17388	1140	40	1		1	WDR78	1	67292589	Silent	SNP	G	TCGA-S9-A7QW-01A-11D-A34A-08	14785354	67292589	181958032	3	35459											
CR1L	1379	broad.mit.edu	37	1	207867851	207867851	+	Missense_Mutation	SNP	A	A	T			TCGA-S9-A7QW-01A-11D-A34A-08	TCGA-S9-A7QW-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd3bb08-b9cb-493c-a634-6d10d975f62f	e5d478a9-7b9f-4b05-9cb0-01d860c3b005	g.chr1:207867851A>T	ENST00000508064.2	+	5	677	c.617A>T	c.(616-618)tAc>tTc	p.Y206F	CR1L_ENST00000530905.1_Intron	NM_175710.1	NP_783641.1	Q2VPA4	CR1L_HUMAN	complement component (3b/4b) receptor 1-like	206	Sushi 3.					cytoplasm|extracellular region|membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						CCCTCCATATACTGCACCAGC	0.478													84	100					0	0	1	0	0	T	207867851	A	T	207867851	3	4	445	1	0	0	0	0	1	0	0	0	3864	391	14	5	635	5	CR1L	1	207867851	Missense_Mutation	SNP	A	TCGA-S9-A7QW-01A-11D-A34A-08	140575262	207867851	41382770	4	35460											
C1orf65	164127	broad.mit.edu	37	1	223567220	223567220	+	Missense_Mutation	SNP	T	T	A			TCGA-S9-A7QW-01A-11D-A34A-08	TCGA-S9-A7QW-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd3bb08-b9cb-493c-a634-6d10d975f62f	e5d478a9-7b9f-4b05-9cb0-01d860c3b005	g.chr1:223567220T>A	ENST00000366875.3	+	1	506	c.403T>A	c.(403-405)Tgc>Agc	p.C135S		NM_152610.2	NP_689823.2	Q8N715	CA065_HUMAN	chromosome 1 open reading frame 65	135	Pro-rich.									breast(4)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|skin(3)	29				GBM - Glioblastoma multiforme(131;0.0704)		GCCGCAGCCCTGCCCGCATTA	0.701													6	7					0	0	1	0	0	A	223567220	T	A	223567220	3	1	445	1	0	0	0	0	1	0	0	0	2069	1580	55	5	405	5	C1orf65	1	223567220	Missense_Mutation	SNP	T	TCGA-S9-A7QW-01A-11D-A34A-08	15699369	223567220	25683401	5	35461											
DNMT3A	1788	broad.mit.edu	37	2	25463521	25463521	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A7QW-01A-11D-A34A-08	TCGA-S9-A7QW-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd3bb08-b9cb-493c-a634-6d10d975f62f	e5d478a9-7b9f-4b05-9cb0-01d860c3b005	g.chr2:25463521T>C	ENST00000264709.3	-	18	2498	c.2161A>G	c.(2161-2163)Aag>Gag	p.K721E	DNMT3A_ENST00000380746.4_Missense_Mutation_p.K532E|DNMT3A_ENST00000321117.5_Missense_Mutation_p.K721E|DNMT3A_ENST00000474887.1_5'UTR|DNMT3A_ENST00000402667.1_Missense_Mutation_p.K498E	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	721					regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TAGAGGCCCTTGCGAGCAGGG	0.577			"Mis, F, N, S"		AML								28	31					0	0	1	0	0	C	25463521	T	C	25463521	3	2	445	1	0	0	0	0	1	0	0	0	4703	1821	63	3	601	3	DNMT3A	2	25463521	Missense_Mutation	SNP	T	TCGA-S9-A7QW-01A-11D-A34A-08		25463521	217735852	6	35462											
CCDC104	112942	broad.mit.edu	37	2	55750876	55750876	+	Missense_Mutation	SNP	G	G	T			TCGA-S9-A7QW-01A-11D-A34A-08	TCGA-S9-A7QW-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd3bb08-b9cb-493c-a634-6d10d975f62f	e5d478a9-7b9f-4b05-9cb0-01d860c3b005	g.chr2:55750876G>T	ENST00000349456.4	+	3	348	c.200G>T	c.(199-201)gGt>gTt	p.G67V	CCDC104_ENST00000403007.3_Missense_Mutation_p.G67V|CCDC104_ENST00000407816.3_Missense_Mutation_p.G67V|CCDC104_ENST00000406691.3_Missense_Mutation_p.G67V|CCDC104_ENST00000339012.3_Missense_Mutation_p.G92V			Q96G28	CC104_HUMAN	coiled-coil domain containing 104	67										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(2)|lung(1)|ovary(2)	14			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			CTGTTAGAAGGTTACCTCAAA	0.294													5	48					0.000602214	0.000622628	1	1	0	T	55750876	G	T	55750876	3	4	445	1	0	0	0	0	1	0	0	0	2757	1261	44	5	210	5	CCDC104	2	55750876	Missense_Mutation	SNP	G	TCGA-S9-A7QW-01A-11D-A34A-08	30287355	55750876	187448497	7	35463											
CKAP2L	150468	broad.mit.edu	37	2	113513993	113513993	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7QW-01A-11D-A34A-08	TCGA-S9-A7QW-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd3bb08-b9cb-493c-a634-6d10d975f62f	e5d478a9-7b9f-4b05-9cb0-01d860c3b005	g.chr2:113513993G>A	ENST00000541405.1	-	4	983	c.460C>T	c.(460-462)Cgg>Tgg	p.R154W	CKAP2L_ENST00000302450.6_Missense_Mutation_p.R319W			Q8IYA6	CKP2L_HUMAN	cytoskeleton associated protein 2-like	319						centrosome				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	28						GGGTATGACCGTATCTTAGTT	0.378													4	134					0	0	1	0	0	A	113513993	G	A	113513993	3	1	445	1	0	0	0	0	1	0	0	0	3466	1144	40	1	1306	1	CKAP2L	2	113513993	Missense_Mutation	SNP	G	TCGA-S9-A7QW-01A-11D-A34A-08	57763117	113513993	129685380	8	35464											
SAP130	79595	broad.mit.edu	37	2	128747140	128747140	+	Nonsense_Mutation	SNP	G	G	C			TCGA-S9-A7QW-01A-11D-A34A-08	TCGA-S9-A7QW-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd3bb08-b9cb-493c-a634-6d10d975f62f	e5d478a9-7b9f-4b05-9cb0-01d860c3b005	g.chr2:128747140G>C	ENST00000357702.5	-	13	1987	c.1856C>G	c.(1855-1857)tCa>tGa	p.S619*	SAP130_ENST00000259235.3_Nonsense_Mutation_p.S619*|SAP130_ENST00000259234.6_Nonsense_Mutation_p.S593*	NM_001145928.1	NP_001139400.1	Q9H0E3	SP130_HUMAN	Sin3A-associated protein, 130kDa	619					histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity			NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		AAAATTACCTGAAGTCTTTCC	0.433													31	24					0	0	1	0	0	C	128747140	G	C	128747140	4	2	445	1	0	0	0	0	0	1	0	0	13883	1294	45	5	1431	5	SAP130	2	128747140	Nonsense_Mutation	SNP	G	TCGA-S9-A7QW-01A-11D-A34A-08	15233147	128747140	114452233	9	35465											
LRP1B	53353	broad.mit.edu	37	2	141130603	141130603	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A7QW-01A-11D-A34A-08	TCGA-S9-A7QW-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd3bb08-b9cb-493c-a634-6d10d975f62f	e5d478a9-7b9f-4b05-9cb0-01d860c3b005	g.chr2:141130603C>T	ENST00000389484.3	-	69	11713	c.10742G>A	c.(10741-10743)gGg>gAg	p.G3581E		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3581	LDL-receptor class A 27.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CTCATCTTCCCCATATTTGCA	0.358										TSP Lung(27;0.18)			6	150					0	0	1	0	0	T	141130603	C	T	141130603	3	4	445	1	0	0	0	0	1	0	0	0	9000	623	22	2	3149	2	LRP1B	2	141130603	Missense_Mutation	SNP	C	TCGA-S9-A7QW-01A-11D-A34A-08	12383463	141130603	102068770	10	35466											
TTN	7273	broad.mit.edu	37	2	179598483	179598483	+	Silent	SNP	G	G	A			TCGA-S9-A7QW-01A-11D-A34A-08	TCGA-S9-A7QW-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd3bb08-b9cb-493c-a634-6d10d975f62f	e5d478a9-7b9f-4b05-9cb0-01d860c3b005	g.chr2:179598483G>A	ENST00000589042.1	-	53	15857	c.15633C>T	c.(15631-15633)gaC>gaT	p.D5211D	TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Silent_p.D4894D|TTN_ENST00000342992.6_Silent_p.D3967D|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	4894	Ig-like 32.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGATTTTTCCGTCTTCTCTGA	0.453													6	124					0	0	1	0	0	A	179598483	G	A	179598483	2	1	445	1	0	0	0	0	0	0	0	1	16797	1136	40	1		1	TTN	2	179598483	Silent	SNP	G	TCGA-S9-A7QW-01A-11D-A34A-08	38467880	179598483	63600890	11	35467											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-S9-A7QW-01A-11D-A34A-08	TCGA-S9-A7QW-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd3bb08-b9cb-493c-a634-6d10d975f62f	e5d478a9-7b9f-4b05-9cb0-01d860c3b005	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	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								33	44					0	0	1	0	0	T	209113112	C	T	209113112	3	4	445	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-S9-A7QW-01A-11D-A34A-08	29514629	209113112	34086261	12	35468											
FGD5	152273	broad.mit.edu	37	3	14922109	14922109	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7QW-01A-11D-A34A-08	TCGA-S9-A7QW-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd3bb08-b9cb-493c-a634-6d10d975f62f	e5d478a9-7b9f-4b05-9cb0-01d860c3b005	g.chr3:14922109G>A	ENST00000285046.5	+	3	2799	c.2689G>A	c.(2689-2691)Gca>Aca	p.A897T	FGD5_ENST00000543601.1_Missense_Mutation_p.A656T	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	897	DH.				actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						CCTTGTCATCGCACAGGAACT	0.542													5	30					0	0	1	0	0	A	14922109	G	A	14922109	3	1	445	1	0	0	0	0	1	0	0	0	5869	1087	38	1	2699	1	FGD5	3	14922109	Missense_Mutation	SNP	G	TCGA-S9-A7QW-01A-11D-A34A-08		14922109	183100321	13	35469											
USP19	10869	broad.mit.edu	37	3	49153204	49153204	+	Missense_Mutation	SNP	T	T	A			TCGA-S9-A7QW-01A-11D-A34A-08	TCGA-S9-A7QW-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd3bb08-b9cb-493c-a634-6d10d975f62f	e5d478a9-7b9f-4b05-9cb0-01d860c3b005	g.chr3:49153204T>A	ENST00000453664.1	-	11	1927	c.1609A>T	c.(1609-1611)Aca>Tca	p.T537S	USP19_ENST00000434032.2_Missense_Mutation_p.T547S|USP19_ENST00000398896.1_Missense_Mutation_p.T254S|USP19_ENST00000398888.2_Missense_Mutation_p.T446S|USP19_ENST00000398898.2_Missense_Mutation_p.T486S|USP19_ENST00000417901.1_Missense_Mutation_p.T549S|USP19_ENST00000398892.3_Missense_Mutation_p.T486S	NM_001199161.1|NM_001199162.1	NP_001186090.1|NP_001186091.1	O94966	UBP19_HUMAN	ubiquitin specific peptidase 19	446					ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy	endoplasmic reticulum membrane|integral to membrane	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		TCCATGGGTGTGCGGGTTGCC	0.602													17	43					0	0	1	0	0	A	49153204	T	A	49153204	3	1	445	1	0	0	0	0	1	0	0	0	17110	1696	59	5	2688	5	USP19	3	49153204	Missense_Mutation	SNP	T	TCGA-S9-A7QW-01A-11D-A34A-08	34231095	49153204	148869226	14	35470											
NEK11	79858	broad.mit.edu	37	3	130947384	130947384	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A7QW-01A-11D-A34A-08	TCGA-S9-A7QW-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd3bb08-b9cb-493c-a634-6d10d975f62f	e5d478a9-7b9f-4b05-9cb0-01d860c3b005	g.chr3:130947384A>G	ENST00000383366.4	+	15	1705	c.1412A>G	c.(1411-1413)gAc>gGc	p.D471G	NEK11_ENST00000510769.1_Missense_Mutation_p.D366G|NEK11_ENST00000510688.1_Missense_Mutation_p.D471G|NEK11_ENST00000412440.2_Missense_Mutation_p.D287G|NEK11_ENST00000508196.1_Missense_Mutation_p.D471G|NEK11_ENST00000429253.2_Missense_Mutation_p.D471G	NM_024800.4	NP_079076.3	Q8NG66	NEK11_HUMAN	NIMA-related kinase 11	471					cell cycle|intra-S DNA damage checkpoint|intracellular protein kinase cascade	nucleolus	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|stomach(1)|urinary_tract(2)	33						ATCCCAGAAGACCCACTTGTG	0.368													11	255					0	0	1	0	0	G	130947384	A	G	130947384	3	3	445	1	0	0	0	0	1	0	0	0	10370	275	10	3	1480	3	NEK11	3	130947384	Missense_Mutation	SNP	A	TCGA-S9-A7QW-01A-11D-A34A-08	81794180	130947384	67075046	15	35471											
ZBTB38	253461	broad.mit.edu	37	3	141161851	141161851	+	Silent	SNP	C	C	T			TCGA-S9-A7QW-01A-11D-A34A-08	TCGA-S9-A7QW-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd3bb08-b9cb-493c-a634-6d10d975f62f	e5d478a9-7b9f-4b05-9cb0-01d860c3b005	g.chr3:141161851C>T	ENST00000514251.1	+	4	900	c.621C>T	c.(619-621)gaC>gaT	p.D207D	ZBTB38_ENST00000321464.5_Silent_p.D208D|ZBTB38_ENST00000441582.2_Silent_p.D207D			Q8NAP3	ZBT38_HUMAN	zinc finger and BTB domain containing 38	207					positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	41						AGAGGACGGACGTCTGCCACG	0.512													36	44					0	0	1	0	0	T	141161851	C	T	141161851	2	4	445	1	0	0	0	0	0	0	0	1	17598	535	19	1		1	ZBTB38	3	141161851	Silent	SNP	C	TCGA-S9-A7QW-01A-11D-A34A-08	10214467	141161851	56860579	16	35472											
TMEM33	55161	broad.mit.edu	37	4	41941241	41941241	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A7QW-01A-11D-A34A-08	TCGA-S9-A7QW-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd3bb08-b9cb-493c-a634-6d10d975f62f	e5d478a9-7b9f-4b05-9cb0-01d860c3b005	g.chr4:41941241C>T	ENST00000504986.1	+	3	534	c.169C>T	c.(169-171)Cgt>Tgt	p.R57C	TMEM33_ENST00000325094.5_Missense_Mutation_p.R57C|TMEM33_ENST00000513702.1_Missense_Mutation_p.R57C	NM_018126.2	NP_060596.2	P57088	TMM33_HUMAN	transmembrane protein 33	57						integral to membrane|melanosome	protein binding			endometrium(1)|large_intestine(3)|lung(4)|ovary(1)	9						CTTTTACCAACGTGCTTTGCT	0.458													32	46					0	0	1	0	0	T	41941241	C	T	41941241	3	4	445	1	0	0	0	0	1	0	0	0	16216	536	19	1	179	1	TMEM33	4	41941241	Missense_Mutation	SNP	C	TCGA-S9-A7QW-01A-11D-A34A-08		41941241	149213035	17	35473											
TMPRSS11B	132724	broad.mit.edu	37	4	69094596	69094596	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A7QW-01A-11D-A34A-08	TCGA-S9-A7QW-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd3bb08-b9cb-493c-a634-6d10d975f62f	e5d478a9-7b9f-4b05-9cb0-01d860c3b005	g.chr4:69094596A>G	ENST00000332644.5	-	9	1114	c.953T>C	c.(952-954)tTt>tCt	p.F318S		NM_182502.3	NP_872308.2	Q86T26	TM11B_HUMAN	transmembrane protease, serine 11B	318	Peptidase S1.				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)	27						TATCACTGGAAATGAACCTAA	0.358													3	62					0	0	1	0	0	G	69094596	A	G	69094596	3	3	445	1	0	0	0	0	1	0	0	0	16300	14	1	3	305	3	TMPRSS11B	4	69094596	Missense_Mutation	SNP	A	TCGA-S9-A7QW-01A-11D-A34A-08	27153355	69094596	122059680	18	35474											
TMPRSS11B	132724	broad.mit.edu	37	4	69095170	69095170	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7QW-01A-11D-A34A-08	TCGA-S9-A7QW-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd3bb08-b9cb-493c-a634-6d10d975f62f	e5d478a9-7b9f-4b05-9cb0-01d860c3b005	g.chr4:69095170G>A	ENST00000332644.5	-	8	912	c.751C>T	c.(751-753)Cgg>Tgg	p.R251W		NM_182502.3	NP_872308.2	Q86T26	TM11B_HUMAN	transmembrane protease, serine 11B	251	Peptidase S1.				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)	27						TGGACTTTCCGTGTCATATAT	0.338													27	28					0	0	1	0	0	A	69095170	G	A	69095170	3	1	445	1	0	0	0	0	1	0	0	0	16300	1144	40	1	511	1	TMPRSS11B	4	69095170	Missense_Mutation	SNP	G	TCGA-S9-A7QW-01A-11D-A34A-08	574	69095170	122059106	19	35475											
PRDM9	56979	broad.mit.edu	37	5	23526937	23526937	+	Nonsense_Mutation	SNP	T	T	G			TCGA-S9-A7QW-01A-11D-A34A-08	TCGA-S9-A7QW-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd3bb08-b9cb-493c-a634-6d10d975f62f	e5d478a9-7b9f-4b05-9cb0-01d860c3b005	g.chr5:23526937T>G	ENST00000296682.3	+	11	1922	c.1740T>G	c.(1738-1740)taT>taG	p.Y580*		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	580					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						AGAAGCCCTATGTCTGCAGGG	0.592										HNSCC(3;0.000094)			46	54					0	0	1	0	0	G	23526937	T	G	23526937	4	3	445	1	0	0	0	0	0	1	0	0	12515	1471	51	4	1778	4	PRDM9	5	23526937	Nonsense_Mutation	SNP	T	TCGA-S9-A7QW-01A-11D-A34A-08		23526937	157388323	20	35476											
NAIP	4671	broad.mit.edu	37	5	70308494	70308494	+	Silent	SNP	G	G	A			TCGA-S9-A7QW-01A-11D-A34A-08	TCGA-S9-A7QW-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd3bb08-b9cb-493c-a634-6d10d975f62f	e5d478a9-7b9f-4b05-9cb0-01d860c3b005	g.chr5:70308494G>A	ENST00000517649.1	-	4	539	c.249C>T	c.(247-249)gcC>gcT	p.A83A	NAIP_ENST00000508426.2_Silent_p.A83A|NAIP_ENST00000503719.2_Intron|NAIP_ENST00000523981.1_Intron|NAIP_ENST00000194097.4_Silent_p.A83A	NM_004536.2	NP_004527.2	Q13075	BIRC1_HUMAN	NLR family, apoptosis inhibitory protein	83					anti-apoptosis|apoptosis|nervous system development	basolateral plasma membrane|cytoplasm	caspase inhibitor activity|metal ion binding|nucleoside-triphosphatase activity|nucleotide binding			central_nervous_system(1)	1		Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174)		AAAACCCAGCGGCCGCCATCT	0.493													39	65					0	0	1	0	0	A	70308494	G	A	70308494	2	1	445	1	0	0	0	0	0	0	0	1	10195	1103	39	1		1	NAIP	5	70308494	Silent	SNP	G	TCGA-S9-A7QW-01A-11D-A34A-08	46781557	70308494	110606766	21	35477											
PAQR8	85315	broad.mit.edu	37	6	52268806	52268806	+	Silent	SNP	C	C	T			TCGA-S9-A7QW-01A-11D-A34A-08	TCGA-S9-A7QW-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd3bb08-b9cb-493c-a634-6d10d975f62f	e5d478a9-7b9f-4b05-9cb0-01d860c3b005	g.chr6:52268806C>T	ENST00000442253.2	+	2	969	c.795C>T	c.(793-795)ccC>ccT	p.P265P	PAQR8_ENST00000360726.3_Silent_p.P265P	NM_133367.4	NP_588608.1	Q8TEZ7	MPRB_HUMAN	progestin and adipoQ receptor family member VIII	265					cell differentiation|multicellular organismal development|oogenesis	integral to membrane|plasma membrane	receptor activity|steroid binding	p.P265P(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|urinary_tract(2)	17	Lung NSC(77;0.0875)					TCTCCTGCCCCGTGCCTGAGA	0.577													26	24					0	0	1	0	0	T	52268806	C	T	52268806	2	4	445	1	0	0	0	0	0	0	0	1	11488	639	23	1		1	PAQR8	6	52268806	Silent	SNP	C	TCGA-S9-A7QW-01A-11D-A34A-08		52268806	118846261	22	35478											
SLC22A2	6582	broad.mit.edu	37	6	160666576	160666576	+	Splice_Site	SNP	C	C	T			TCGA-S9-A7QW-01A-11D-A34A-08	TCGA-S9-A7QW-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd3bb08-b9cb-493c-a634-6d10d975f62f	e5d478a9-7b9f-4b05-9cb0-01d860c3b005	g.chr6:160666576C>T	ENST00000366952.1	-	8	2377	c.896G>A	c.(895-897)cGc>cAc	p.R299H	SLC22A2_ENST00000366953.3_Splice_Site_p.R320H|SLC22A2_ENST00000491092.1_5'UTR			O15244	S22A2_HUMAN	solute carrier family 22 (organic cation transporter), member 2	320					body fluid secretion|neurotransmitter biosynthetic process|neurotransmitter secretion	integral to plasma membrane|membrane fraction	neurotransmitter transporter activity|organic cation transmembrane transporter activity	p.R320H(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(16)|prostate(2)|skin(1)	27		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06)		AAGTCTCAGGCGCTAAGAAAA	0.408													10	24					0	0	1	0	0	T	160666576	C	T	160666576	5	4	445	1	0	0	0	0	0	0	1	0	14506	782	27	1	732	1	SLC22A2	6	160666576	Splice_Site	SNP	C	TCGA-S9-A7QW-01A-11D-A34A-08	108397770	160666576	10448491	23	35479											
TRIM50	135892	broad.mit.edu	37	7	72732892	72732892	+	Missense_Mutation	SNP	G	G	A	rs145742720		TCGA-S9-A7QW-01A-11D-A34A-08	TCGA-S9-A7QW-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd3bb08-b9cb-493c-a634-6d10d975f62f	e5d478a9-7b9f-4b05-9cb0-01d860c3b005	g.chr7:72732892G>A	ENST00000333149.2	-	4	855	c.655C>T	c.(655-657)Cgg>Tgg	p.R219W	TRIM50_ENST00000453152.1_Missense_Mutation_p.R219W	NM_178125.2	NP_835226.2	Q86XT4	TRI50_HUMAN	tripartite motif containing 50	219						cytoplasm|intracellular membrane-bounded organelle	ligase activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|skin(2)	20						AGCCGCTCCCGGGTTCCCTGG	0.667													29	120					0	0	1	0	0	A	72732892	G	A	72732892	3	1	445	1	0	0	0	0	1	0	0	0	16587	1115	39	1	824	1	TRIM50	7	72732892	Missense_Mutation	SNP	G	TCGA-S9-A7QW-01A-11D-A34A-08		72732892	86405771	24	35480											
LIMK1	3984	broad.mit.edu	37	7	73513561	73513561	+	Missense_Mutation	SNP	G	G	T			TCGA-S9-A7QW-01A-11D-A34A-08	TCGA-S9-A7QW-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd3bb08-b9cb-493c-a634-6d10d975f62f	e5d478a9-7b9f-4b05-9cb0-01d860c3b005	g.chr7:73513561G>T	ENST00000418310.1	+	5	793	c.691G>T	c.(691-693)Gtc>Ttc	p.V231F	LIMK1_ENST00000336180.2_Missense_Mutation_p.V201F|LIMK1_ENST00000538333.3_Missense_Mutation_p.V167F|LIMK1_ENST00000491052.1_3'UTR			P53667	LIMK1_HUMAN	LIM domain kinase 1	201	PDZ.				actin cytoskeleton organization|axon guidance|negative regulation of ubiquitin-protein ligase activity|positive regulation of actin filament bundle assembly|positive regulation of axon extension|Rho protein signal transduction	cytosol|growth cone|nucleus	ATP binding|heat shock protein binding|protein serine/threonine kinase activity|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	21		Lung NSC(55;0.137)				CACCGTCCGCGTCCAGGGGTG	0.647													32	163					4.3181e-19	4.62112e-19	1	1	0	T	73513561	G	T	73513561	3	4	445	1	0	0	0	0	1	0	0	0	8841	1145	40	5	619	5	LIMK1	7	73513561	Missense_Mutation	SNP	G	TCGA-S9-A7QW-01A-11D-A34A-08	780669	73513561	85625102	25	35481											
OR2AE1	81392	broad.mit.edu	37	7	99474198	99474198	+	Silent	SNP	G	G	A			TCGA-S9-A7QW-01A-11D-A34A-08	TCGA-S9-A7QW-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd3bb08-b9cb-493c-a634-6d10d975f62f	e5d478a9-7b9f-4b05-9cb0-01d860c3b005	g.chr7:99474198G>A	ENST00000316368.2	-	1	482	c.459C>T	c.(457-459)tcC>tcT	p.S153S		NM_001005276.1	NP_001005276.1	Q8NHA4	O2AE1_HUMAN	olfactory receptor, family 2, subfamily AE, member 1	153					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(2)	11	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)					GGGAGTTCACGGATGCCCCCA	0.507													29	91					0	0	1	0	0	A	99474198	G	A	99474198	2	1	445	1	0	0	0	0	0	0	0	1	11031	1103	39	1		1	OR2AE1	7	99474198	Silent	SNP	G	TCGA-S9-A7QW-01A-11D-A34A-08	25960637	99474198	59664465	26	35482											
ZNF7	7553	broad.mit.edu	37	8	146068294	146068294	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7QW-01A-11D-A34A-08	TCGA-S9-A7QW-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd3bb08-b9cb-493c-a634-6d10d975f62f	e5d478a9-7b9f-4b05-9cb0-01d860c3b005	g.chr8:146068294G>A	ENST00000528372.1	+	5	2042	c.1802G>A	c.(1801-1803)aGa>aAa	p.R601K	ZNF7_ENST00000544249.1_Missense_Mutation_p.R505K|ZNF7_ENST00000525266.1_Intron|ZNF7_ENST00000446747.2_Missense_Mutation_p.R612K|ZNF7_ENST00000325241.6_Missense_Mutation_p.R601K|ZNF7_ENST00000325217.5_Intron			P17097	ZNF7_HUMAN	zinc finger protein 7	601					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|ovary(5)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Breast(495;0.0812)|Ovarian(118;0.0822)|Acute lymphoblastic leukemia(644;0.143)	Epithelial(56;8.75e-39)|OV - Ovarian serous cystadenocarcinoma(54;1.13e-38)|all cancers(56;8.48e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;2.11e-07)		GAACACCAGAGAATACACACT	0.453													37	70					0	0	1	0	0	A	146068294	G	A	146068294	3	1	445	1	0	0	0	0	1	0	0	0	18158	942	33	2	1816	2	ZNF7	8	146068294	Missense_Mutation	SNP	G	TCGA-S9-A7QW-01A-11D-A34A-08		146068294	295728	27	35483											
USP20	10868	broad.mit.edu	37	9	132620334	132620334	+	Silent	SNP	C	C	T			TCGA-S9-A7QW-01A-11D-A34A-08	TCGA-S9-A7QW-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd3bb08-b9cb-493c-a634-6d10d975f62f	e5d478a9-7b9f-4b05-9cb0-01d860c3b005	g.chr9:132620334C>T	ENST00000315480.4	+	5	299	c.141C>T	c.(139-141)gcC>gcT	p.A47A	USP20_ENST00000358355.1_Silent_p.A47A|USP20_ENST00000372429.3_Silent_p.A47A			Q9Y2K6	UBP20_HUMAN	ubiquitin specific peptidase 20	47					endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|ubiquitin thiolesterase activity|zinc ion binding			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|urinary_tract(1)	11		Ovarian(14;0.00556)				CCCAGGTTGCCTGCCCCTATG	0.557													31	117					0	0	1	0	0	T	132620334	C	T	132620334	2	4	445	1	0	0	0	0	0	0	0	1	17112	668	24	2		2	USP20	9	132620334	Silent	SNP	C	TCGA-S9-A7QW-01A-11D-A34A-08		132620334	8593097	28	35484											
GBGT1	26301	broad.mit.edu	37	9	136029210	136029210	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A7QW-01A-11D-A34A-08	TCGA-S9-A7QW-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd3bb08-b9cb-493c-a634-6d10d975f62f	e5d478a9-7b9f-4b05-9cb0-01d860c3b005	g.chr9:136029210C>T	ENST00000372043.3	-	7	1064	c.779G>A	c.(778-780)gGg>gAg	p.G260E	RALGDS_ENST00000542690.1_Intron|GBGT1_ENST00000472281.1_5'UTR|GBGT1_ENST00000540636.1_Silent_p.G249G|GBGT1_ENST00000372040.3_Silent_p.G266G	NM_021996.4	NP_068836.2			globoside alpha-1,3-N-acetylgalactosaminyltransferase 1											breast(2)|endometrium(1)|kidney(4)|lung(2)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(145;3.49e-06)|Epithelial(140;2.59e-05)		CCACCTGCCCCCCGAAGACTG	0.612													35	111					0	0	1	0	0	T	136029210	C	T	136029210	3	4	445	1	0	0	0	0	1	0	0	0	6312	610	22	2	249	2	GBGT1	9	136029210	Missense_Mutation	SNP	C	TCGA-S9-A7QW-01A-11D-A34A-08	3408876	136029210	5184221	29	35485											
CHST3	9469	broad.mit.edu	37	10	73767262	73767264	+	In_Frame_Del	DEL	TCT	TCT	-	rs145538723		TCGA-S9-A7QW-01A-11D-A34A-08	TCGA-S9-A7QW-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd3bb08-b9cb-493c-a634-6d10d975f62f	e5d478a9-7b9f-4b05-9cb0-01d860c3b005	g.chr10:73767262_73767264delTCT	ENST00000373115.4	+	3	910_912	c.473_475delTCT	c.(472-477)atcttc>atc	p.F159del		NM_004273.4	NP_004264.2	Q7LGC8	CHST3_HUMAN	carbohydrate (chondroitin 6) sulfotransferase 3	159					chondroitin sulfate biosynthetic process	Golgi membrane|integral to membrane	chondroitin 6-sulfotransferase activity			endometrium(1)|lung(5)	6						CAGGGCAACATCTTCTACCTCTT	0.7													8	12	---	---	---	---						-	73767264	TCT	-	73767262	7	5	445	1	0	1	0	1	0	0	0	0	3427	1435	50	0	479	0	CHST3	10	73767262	In_Frame_Del	DEL	TCT	TCGA-S9-A7QW-01A-11D-A34A-08		73767262	61767485	30	35486											
OR51B6	390058	broad.mit.edu	37	11	5373614	5373614	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A7QW-01A-11D-A34A-08	TCGA-S9-A7QW-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd3bb08-b9cb-493c-a634-6d10d975f62f	e5d478a9-7b9f-4b05-9cb0-01d860c3b005	g.chr11:5373614A>G	ENST00000380219.1	+	1	877	c.877A>G	c.(877-879)Aaa>Gaa	p.K293E	HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380252.1_Intron	NM_001004750.1	NP_001004750.1	Q9H340	O51B6_HUMAN	olfactory receptor, family 51, subfamily B, member 6	293					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	21		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTATAGCATTAAAACTAAGCA	0.408													4	113					0	0	1	0	0	G	5373614	A	G	5373614	3	3	445	1	0	0	0	0	1	0	0	0	11140	363	13	3	879	3	OR51B6	11	5373614	Missense_Mutation	SNP	A	TCGA-S9-A7QW-01A-11D-A34A-08		5373614	129632902	31	35487											
OR4A5	81318	broad.mit.edu	37	11	51411540	51411540	+	Missense_Mutation	SNP	A	A	T			TCGA-S9-A7QW-01A-11D-A34A-08	TCGA-S9-A7QW-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd3bb08-b9cb-493c-a634-6d10d975f62f	e5d478a9-7b9f-4b05-9cb0-01d860c3b005	g.chr11:51411540A>T	ENST00000319760.6	-	1	908	c.856T>A	c.(856-858)Ttg>Atg	p.L286M		NM_001005272.3	NP_001005272.3	Q8NH83	OR4A5_HUMAN	olfactory receptor, family 4, subfamily A, member 5	286					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49		all_lung(304;0.236)				GAATTTCTCAACGTATATATT	0.333													3	56					0	0	1	0	0	T	51411540	A	T	51411540	3	4	445	1	0	0	0	0	1	0	0	0	11091	40	2	5	95	5	OR4A5	11	51411540	Missense_Mutation	SNP	A	TCGA-S9-A7QW-01A-11D-A34A-08	46037926	51411540	83594976	32	35488											
OR5M9	390162	broad.mit.edu	37	11	56230565	56230565	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A7QW-01A-11D-A34A-08	TCGA-S9-A7QW-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd3bb08-b9cb-493c-a634-6d10d975f62f	e5d478a9-7b9f-4b05-9cb0-01d860c3b005	g.chr11:56230565C>T	ENST00000279791.1	-	1	312	c.313G>A	c.(313-315)Gtt>Att	p.V105I		NM_001004743.1	NP_001004743.1	Q8NGP3	OR5M9_HUMAN	olfactory receptor, family 5, subfamily M, member 9	105					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	36	Esophageal squamous(21;0.00448)					ACGTGGACAACGGCAATGAAA	0.473													41	33					0	0	1	0	0	T	56230565	C	T	56230565	3	4	445	1	0	0	0	0	1	0	0	0	11224	536	19	1	621	1	OR5M9	11	56230565	Missense_Mutation	SNP	C	TCGA-S9-A7QW-01A-11D-A34A-08	4819025	56230565	78775951	33	35489											
CDKN1B	1027	broad.mit.edu	37	12	12870928	12870929	+	Frame_Shift_Ins	INS	-	-	GGAAGAGGCG			TCGA-S9-A7QW-01A-11D-A34A-08	TCGA-S9-A7QW-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd3bb08-b9cb-493c-a634-6d10d975f62f	e5d478a9-7b9f-4b05-9cb0-01d860c3b005	g.chr12:12870928_12870929insGGAAGAGGCG	ENST00000228872.4	+	1	871_872	c.155_156insGGAAGAGGCG	c.(154-159)atggaafs	p.-53fs	CDKN1B_ENST00000396340.1_Frame_Shift_Ins_p.-53fs|CDKN1B_ENST00000477087.1_Intron	NM_004064.3	NP_004055.1	P46527	CDN1B_HUMAN	cyclin-dependent kinase inhibitor 1B (p27, Kip1)						autophagic cell death|cell cycle arrest|cellular response to lithium ion|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of transcription, DNA-dependent|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of protein catabolic process|S phase of mitotic cell cycle	cytosol|endosome|nucleoplasm	cyclin-dependent protein kinase inhibitor activity|protein phosphatase binding|transforming growth factor beta receptor, cytoplasmic mediator activity	p.M52I(1)		breast(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(5)	13		Prostate(47;0.0322)|all_epithelial(100;0.159)		BRCA - Breast invasive adenocarcinoma(232;0.0336)		TGCAGAGACATGGAAGAGGCGA	0.594													10	76	---	---	---	---						GGAAGAGGCG	12870929	-	GGAAGAGGCG	12870928	7	5	445	1	0	1	1	0	0	0	0	0	3181	1464	51	0	157	0	CDKN1B	12	12870928	Frame_Shift_Ins	INS	-	TCGA-S9-A7QW-01A-11D-A34A-08		12870928	120980967	34	35490											
NT5DC3	51559	broad.mit.edu	37	12	104187730	104187730	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A7QW-01A-11D-A34A-08	TCGA-S9-A7QW-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd3bb08-b9cb-493c-a634-6d10d975f62f	e5d478a9-7b9f-4b05-9cb0-01d860c3b005	g.chr12:104187730T>C	ENST00000392876.3	-	7	839	c.799A>G	c.(799-801)Att>Gtt	p.I267V		NM_001031701.2	NP_001026871.1	Q86UY8	NT5D3_HUMAN	5'-nucleotidase domain containing 3	267							hydrolase activity|metal ion binding			NS(1)|breast(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(15)|ovary(2)|skin(1)|stomach(2)	30						TCTGCTTCAATTGCTCTGTAC	0.403													35	51					0	0	1	0	0	C	104187730	T	C	104187730	3	2	445	1	0	0	0	0	1	0	0	0	10740	1493	52	3	879	3	NT5DC3	12	104187730	Missense_Mutation	SNP	T	TCGA-S9-A7QW-01A-11D-A34A-08	91316802	104187730	29664165	35	35491											
SYT16	83851	broad.mit.edu	37	14	62542108	62542108	+	Splice_Site	SNP	A	A	G			TCGA-S9-A7QW-01A-11D-A34A-08	TCGA-S9-A7QW-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd3bb08-b9cb-493c-a634-6d10d975f62f	e5d478a9-7b9f-4b05-9cb0-01d860c3b005	g.chr14:62542108A>G	ENST00000430451.2	+	3	1189	c.992A>G	c.(991-993)gAg>gGg	p.E331G	RP11-355I22.5_ENST00000553990.1_lincRNA|SYT16_ENST00000446982.2_Splice_Site_p.E331G	NM_031914.2	NP_114120.2	Q17RD7	SYT16_HUMAN	synaptotagmin XVI	331										central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		TGGAGTCCAGAGGCAAGTTAT	0.443													41	61					0	0	1	0	0	G	62542108	A	G	62542108	5	3	445	1	0	0	0	0	0	0	1	0	15529	318	11	3	1002	3	SYT16	14	62542108	Splice_Site	SNP	A	TCGA-S9-A7QW-01A-11D-A34A-08		62542108	44807432	36	35492											
SERPINA5	5104	broad.mit.edu	37	14	95057144	95057144	+	Missense_Mutation	SNP	G	G	T	rs61761874		TCGA-S9-A7QW-01A-11D-A34A-08	TCGA-S9-A7QW-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd3bb08-b9cb-493c-a634-6d10d975f62f	e5d478a9-7b9f-4b05-9cb0-01d860c3b005	g.chr14:95057144G>T	ENST00000329597.7	+	5	1159	c.949G>T	c.(949-951)Gtc>Ttc	p.V317F	SERPINA5_ENST00000554276.1_Missense_Mutation_p.V317F|SERPINA5_ENST00000554866.1_Missense_Mutation_p.V317F|SERPINA5_ENST00000553780.1_Missense_Mutation_p.V317F	NM_000624.5	NP_000615.3	P05154	IPSP_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5	317					fusion of sperm to egg plasma membrane|regulation of proteolysis|spermatogenesis	extracellular region|membrane|protein complex	acrosin binding|heparin binding|protease binding|serine-type endopeptidase inhibitor activity			endometrium(3)|large_intestine(5)|lung(18)|ovary(2)|skin(5)|upper_aerodigestive_tract(3)	36				COAD - Colon adenocarcinoma(157;0.21)	Drotrecogin alfa(DB00055)|Urokinase(DB00013)	GCTGGAGAAAGTCCTCCCCAG	0.517													33	59					1.62565e-12	1.70973e-12	1	1	0	T	95057144	G	T	95057144	3	4	445	1	0	0	0	0	1	0	0	0	14146	1029	36	4	959	4	SERPINA5	14	95057144	Missense_Mutation	SNP	G	TCGA-S9-A7QW-01A-11D-A34A-08	32515036	95057144	12292396	37	35493											
PEX11A	8800	broad.mit.edu	37	15	90226670	90226670	+	Missense_Mutation	SNP	C	C	A			TCGA-S9-A7QW-01A-11D-A34A-08	TCGA-S9-A7QW-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd3bb08-b9cb-493c-a634-6d10d975f62f	e5d478a9-7b9f-4b05-9cb0-01d860c3b005	g.chr15:90226670C>A	ENST00000300056.3	-	3	831	c.682G>T	c.(682-684)Gtg>Ttg	p.V228L	PEX11A_ENST00000557982.1_Intron|PEX11A_ENST00000559170.1_3'UTR|PEX11A_ENST00000561224.1_Intron|PEX11A_ENST00000561257.1_Missense_Mutation_p.V197L	NM_001271573.1	NP_001258502.1	O75192	PX11A_HUMAN	peroxisomal biogenesis factor 11 alpha	228					cellular lipid metabolic process|peroxisome fission|signal transduction	integral to peroxisomal membrane				endometrium(2)|large_intestine(2)|lung(3)	7	Lung NSC(78;0.0237)|all_lung(78;0.0478)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|BRCA - Breast invasive adenocarcinoma(143;0.128)			ATAGAGGACACAAGACCTCCA	0.463													5	280					0.00198382	0.00201688	1	1	0	A	90226670	C	A	90226670	3	1	445	1	0	0	0	0	1	0	0	0	11785	478	17	5	65	5	PEX11A	15	90226670	Missense_Mutation	SNP	C	TCGA-S9-A7QW-01A-11D-A34A-08		90226670	12304722	38	35494											
PELP1	27043	broad.mit.edu	37	17	4579733	4579733	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A7QW-01A-11D-A34A-08	TCGA-S9-A7QW-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd3bb08-b9cb-493c-a634-6d10d975f62f	e5d478a9-7b9f-4b05-9cb0-01d860c3b005	g.chr17:4579733C>T	ENST00000301396.4	-	7	997	c.772G>A	c.(772-774)Gag>Aag	p.E258K	PELP1_ENST00000572293.1_Missense_Mutation_p.E308K|PELP1_ENST00000436683.2_Missense_Mutation_p.E111K|PELP1_ENST00000574876.1_Missense_Mutation_p.E258K|AC091153.4_ENST00000441700.2_RNA|PELP1_ENST00000269230.7_Missense_Mutation_p.E258K			Q8IZL8	PELP1_HUMAN	proline, glutamate and leucine rich protein 1	258					transcription, DNA-dependent	cytoplasm|MLL1 complex	protein binding			breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	15						TCCCAGCTCTCGGTGTGCTTC	0.607													25	29					0	0	1	0	0	T	4579733	C	T	4579733	3	4	445	1	0	0	0	0	1	0	0	0	11772	893	31	1	2664	1	PELP1	17	4579733	Missense_Mutation	SNP	C	TCGA-S9-A7QW-01A-11D-A34A-08		4579733	76615477	39	35495											
TP53	7157	broad.mit.edu	37	17	7578211	7578211	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A7QW-01A-11D-A34A-08	TCGA-S9-A7QW-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd3bb08-b9cb-493c-a634-6d10d975f62f	e5d478a9-7b9f-4b05-9cb0-01d860c3b005	g.chr17:7578211C>T	ENST00000420246.2	-	6	770	c.638G>A	c.(637-639)cGa>cAa	p.R213Q	TP53_ENST00000455263.2_Missense_Mutation_p.R213Q|TP53_ENST00000574684.1_Intron|TP53_ENST00000413465.2_Missense_Mutation_p.R213Q|TP53_ENST00000269305.4_Missense_Mutation_p.R213Q|TP53_ENST00000445888.2_Missense_Mutation_p.R213Q|TP53_ENST00000359597.4_Missense_Mutation_p.R213Q	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	213	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (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.R213L(38)|p.R213Q(29)|p.0?(8)|p.R213P(5)|p.?(5)|p.R120L(4)|p.R81L(4)|p.R120Q(2)|p.R81Q(2)|p.D208_V216delDRNTFRHSV(1)|p.D207_R213delDDRNTFR(1)|p.T211_S215delTFRHS(1)|p.D208fs*1(1)|p.R213>L(1)|p.R209_R213delRNTFR(1)|p.R213fs*2(1)|p.T211fs*28(1)|p.R213_S215>X(1)|p.D207_V216del10(1)|p.R213fs*32(1)|p.R209fs*6(1)|p.R213W(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)		CACACTATGTCGAAAAGTGTT	0.532		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)			25	2					0	0	1	0	0	T	7578211	C	T	7578211	3	4	445	1	0	0	0	0	1	0	0	0	16442	884	31	1	656	1	TP53	17	7578211	Missense_Mutation	SNP	C	TCGA-S9-A7QW-01A-11D-A34A-08	2998478	7578211	73616999	40	35496											
CSHL1	1444	broad.mit.edu	37	17	61987185	61987185	+	Silent	SNP	G	G	A			TCGA-S9-A7QW-01A-11D-A34A-08	TCGA-S9-A7QW-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd3bb08-b9cb-493c-a634-6d10d975f62f	e5d478a9-7b9f-4b05-9cb0-01d860c3b005	g.chr17:61987185G>A	ENST00000259003.10	-	5	513	c.369C>T	c.(367-369)gaC>gaT	p.D123D	CSHL1_ENST00000561003.1_3'UTR|CSHL1_ENST00000450719.3_3'UTR|CSHL1_ENST00000438387.2_Silent_p.D102D|CSHL1_ENST00000558099.1_5'UTR|CSHL1_ENST00000346606.6_Silent_p.D91D|CSHL1_ENST00000309894.5_Silent_p.D185D			Q14406	CSHL_HUMAN	chorionic somatomammotropin hormone-like 1	185						extracellular region	hormone activity|metal ion binding			endometrium(3)|lung(6)	9						TGAGCAGTGCGTCATGGTTGT	0.567													6	163					0	0	1	0	0	A	61987185	G	A	61987185	2	1	445	1	0	0	0	0	0	0	0	1	3967	1136	40	1		1	CSHL1	17	61987185	Silent	SNP	G	TCGA-S9-A7QW-01A-11D-A34A-08	54408974	61987185	19208025	41	35497											
OSCAR	126014	broad.mit.edu	37	19	54600417	54600417	+	Silent	SNP	C	C	T			TCGA-S9-A7QW-01A-11D-A34A-08	TCGA-S9-A7QW-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd3bb08-b9cb-493c-a634-6d10d975f62f	e5d478a9-7b9f-4b05-9cb0-01d860c3b005	g.chr19:54600417C>T	ENST00000284648.6	-	4	302	c.105G>A	c.(103-105)ctG>ctA	p.L35L	OSCAR_ENST00000351806.4_Silent_p.L24L|OSCAR_ENST00000356532.3_Silent_p.L39L|OSCAR_ENST00000391761.1_Silent_p.L24L|OSCAR_ENST00000358375.4_Silent_p.L35L|OSCAR_ENST00000359649.4_Silent_p.L39L|OSCAR_ENST00000391760.1_Intron			Q8IYS5	OSCAR_HUMAN	osteoclast associated, immunoglobulin-like receptor	35	Ig-like 1.					extracellular region|integral to membrane|plasma membrane	receptor activity			large_intestine(1)|skin(1)	2	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)					GCTGAGCTCCCAGCCATGGCT	0.602													32	14					0	0	1	0	0	T	54600417	C	T	54600417	2	4	445	1	0	0	0	0	0	0	0	1	11332	581	21	2		2	OSCAR	19	54600417	Silent	SNP	C	TCGA-S9-A7QW-01A-11D-A34A-08		54600417	4528566	42	35498											
PRPF31	26121	broad.mit.edu	37	19	54628008	54628008	+	Silent	SNP	C	C	T			TCGA-S9-A7QW-01A-11D-A34A-08	TCGA-S9-A7QW-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd3bb08-b9cb-493c-a634-6d10d975f62f	e5d478a9-7b9f-4b05-9cb0-01d860c3b005	g.chr19:54628008C>T	ENST00000321030.4	+	8	1177	c.828C>T	c.(826-828)caC>caT	p.H276H	PRPF31_ENST00000498612.1_3'UTR|PRPF31_ENST00000391755.1_Silent_p.H276H|PRPF31_ENST00000419967.1_Silent_p.H276H|AC012314.8_ENST00000452097.1_RNA	NM_015629.3	NP_056444.3	Q8WWY3	PRP31_HUMAN	pre-mRNA processing factor 31	276	Nop.				assembly of spliceosomal tri-snRNP	Cajal body|MLL1 complex|nuclear speck|U4 snRNP|U4/U6 x U5 tri-snRNP complex|U4atac snRNP	RNA binding|snRNP binding			breast(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(2)|urinary_tract(3)	12	all_cancers(19;0.00681)|all_epithelial(19;0.00362)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					ACATCTACCACAGTGACATCG	0.667													19	11					0	0	1	0	0	T	54628008	C	T	54628008	2	4	445	1	0	0	0	0	0	0	0	1	12618	477	17	2		2	PRPF31	19	54628008	Silent	SNP	C	TCGA-S9-A7QW-01A-11D-A34A-08	27591	54628008	4500975	43	35499											
TRABD	80305	broad.mit.edu	37	22	50636345	50636345	+	Silent	SNP	C	C	T			TCGA-S9-A7QW-01A-11D-A34A-08	TCGA-S9-A7QW-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd3bb08-b9cb-493c-a634-6d10d975f62f	e5d478a9-7b9f-4b05-9cb0-01d860c3b005	g.chr22:50636345C>T	ENST00000303434.4	+	8	884	c.765C>T	c.(763-765)atC>atT	p.I255I	TRABD_ENST00000380909.4_Silent_p.I255I|TRABD_ENST00000395829.1_Silent_p.I255I|TRABD_ENST00000395827.1_Silent_p.I255I	NM_025204.2	NP_079480.2	Q9H4I3	TRABD_HUMAN	TraB domain containing	255										breast(1)|central_nervous_system(1)|large_intestine(1)|liver(2)|lung(1)|upper_aerodigestive_tract(1)	7		all_cancers(38;1.07e-07)|all_epithelial(38;9.6e-07)|all_lung(38;0.00141)|Breast(42;0.00387)|Lung NSC(38;0.0199)|Ovarian(80;0.142)|Lung SC(80;0.162)		LUAD - Lung adenocarcinoma(64;0.105)		ACCGCACCATCGTCTCGGAGC	0.652													52	65					0	0	1	0	0	T	50636345	C	T	50636345	2	4	445	1	0	0	0	0	0	0	0	1	16496	874	31	1		1	TRABD	22	50636345	Silent	SNP	C	TCGA-S9-A7QW-01A-11D-A34A-08		50636345	668221	44	35500											
DMD	1756	broad.mit.edu	37	X	32456373	32456373	+	Silent	SNP	C	C	T			TCGA-S9-A7QW-01A-11D-A34A-08	TCGA-S9-A7QW-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd3bb08-b9cb-493c-a634-6d10d975f62f	e5d478a9-7b9f-4b05-9cb0-01d860c3b005	g.chrX:32456373C>T	ENST00000357033.4	-	29	4262	c.4056G>A	c.(4054-4056)agG>agA	p.R1352R	DMD_ENST00000378677.2_Silent_p.R1348R	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	1352					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				CATGTAGTTCCCTCCAACGAG	0.383													4	95					0	0	1	0	0	T	32456373	C	T	32456373	2	4	445	1	0	0	0	0	0	0	0	1	4608	622	22	2		2	DMD	23	32456373	Silent	SNP	C	TCGA-S9-A7QW-01A-11D-A34A-08		32456373	122814187	45	35501											
USP9X	8239	broad.mit.edu	37	X	41069807	41069807	+	Missense_Mutation	SNP	A	A	C			TCGA-S9-A7QW-01A-11D-A34A-08	TCGA-S9-A7QW-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd3bb08-b9cb-493c-a634-6d10d975f62f	e5d478a9-7b9f-4b05-9cb0-01d860c3b005	g.chrX:41069807A>C	ENST00000324545.8	+	33	5694	c.5061A>C	c.(5059-5061)ttA>ttC	p.L1687F	USP9X_ENST00000378308.2_Missense_Mutation_p.L1687F	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked						BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						ACGATGCTTTAGAATTTTTTA	0.353													9	144					0	0	1	0	0	C	41069807	A	C	41069807	3	2	445	1	0	0	0	0	1	0	0	0	17150	417	15	5	5187	5	USP9X	23	41069807	Missense_Mutation	SNP	A	TCGA-S9-A7QW-01A-11D-A34A-08	8613434	41069807	114200753	46	35502											
ZMYM3	9203	broad.mit.edu	37	X	70469386	70469386	+	Silent	SNP	A	A	G			TCGA-S9-A7QW-01A-11D-A34A-08	TCGA-S9-A7QW-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd3bb08-b9cb-493c-a634-6d10d975f62f	e5d478a9-7b9f-4b05-9cb0-01d860c3b005	g.chrX:70469386A>G	ENST00000373998.1	-	7	2092	c.1395T>C	c.(1393-1395)ccT>ccC	p.P465P	ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000373978.1_3'UTR|ZMYM3_ENST00000353904.2_Silent_p.P465P|ZMYM3_ENST00000373982.1_Silent_p.P467P|ZMYM3_ENST00000373981.1_Silent_p.P465P|ZMYM3_ENST00000314425.5_Silent_p.P465P|ZMYM3_ENST00000373984.3_Silent_p.P467P|ZMYM3_ENST00000373988.1_Silent_p.P467P	NM_001171162.1	NP_001164633.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	465					multicellular organismal development	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					GCTCAGGGCCAGGACTCCCGG	0.557													6	8					0	0	1	0	0	G	70469386	A	G	70469386	2	3	445	1	0	0	0	0	0	0	0	1	17759	175	7	3		3	ZMYM3	23	70469386	Silent	SNP	A	TCGA-S9-A7QW-01A-11D-A34A-08	29399579	70469386	84801174	47	35503											
ATRX	546	broad.mit.edu	37	X	76939556	76939557	+	Frame_Shift_Ins	INS	-	-	A			TCGA-S9-A7QW-01A-11D-A34A-08	TCGA-S9-A7QW-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd3bb08-b9cb-493c-a634-6d10d975f62f	e5d478a9-7b9f-4b05-9cb0-01d860c3b005	g.chrX:76939556_76939557insA	ENST00000373344.5	-	9	1405_1406	c.1191_1192insT	c.(1189-1194)tctgtgfs	p.V398fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Ins_p.V360fs	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	398					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)	TCAGCCAACACAGACTTAAAAG	0.361			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						242	320	---	---	---	---						A	76939557	-	A	76939556	7	5	445	1	0	1	1	0	0	0	0	0	1206	478	17	0	6394	0	ATRX	23	76939556	Frame_Shift_Ins	INS	-	TCGA-S9-A7QW-01A-11D-A34A-08	6470170	76939556	78331004	48	35504											
MUM1L1	139221	broad.mit.edu	37	X	105450235	105450235	+	Silent	SNP	T	T	C			TCGA-S9-A7QW-01A-11D-A34A-08	TCGA-S9-A7QW-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd3bb08-b9cb-493c-a634-6d10d975f62f	e5d478a9-7b9f-4b05-9cb0-01d860c3b005	g.chrX:105450235T>C	ENST00000337685.2	+	5	1595	c.810T>C	c.(808-810)tcT>tcC	p.S270S	MUM1L1_ENST00000372552.1_Silent_p.S270S|MUM1L1_ENST00000357175.2_Silent_p.S270S	NM_152423.4	NP_689636.3	Q5H9M0	MUML1_HUMAN	melanoma associated antigen (mutated) 1-like 1	270										autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						CTGTTCCCTCTGAATGCTCTG	0.473													10	12					0	0	1	0	0	C	105450235	T	C	105450235	2	2	445	1	0	0	0	0	0	0	0	1	10034	1567	55	3		3	MUM1L1	23	105450235	Silent	SNP	T	TCGA-S9-A7QW-01A-11D-A34A-08	28510679	105450235	49820325	49	35505											
MTMR1	8776	broad.mit.edu	37	X	149905114	149905114	+	Missense_Mutation	SNP	A	A	T			TCGA-S9-A7QW-01A-11D-A34A-08	TCGA-S9-A7QW-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd3bb08-b9cb-493c-a634-6d10d975f62f	e5d478a9-7b9f-4b05-9cb0-01d860c3b005	g.chrX:149905114A>T	ENST00000445323.2	+	11	1249	c.1128A>T	c.(1126-1128)gaA>gaT	p.E376D	MTMR1_ENST00000541925.1_Missense_Mutation_p.E274D|MTMR1_ENST00000544228.1_Missense_Mutation_p.E368D|MTMR1_ENST00000451863.2_Missense_Mutation_p.E368D|MTMR1_ENST00000370390.3_Missense_Mutation_p.E368D|MTMR1_ENST00000538506.1_Intron			Q13613	MTMR1_HUMAN	myotubularin related protein 1	368	Myotubularin phosphatase.|Substrate binding (By similarity).					plasma membrane	protein tyrosine phosphatase activity			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					CAAATGCAGAACTTGTGTTCT	0.403													40	43					0	0	1	0	0	T	149905114	A	T	149905114	3	4	445	1	0	0	0	0	1	0	0	0	9986	40	2	5	1142	5	MTMR1	23	149905114	Missense_Mutation	SNP	A	TCGA-S9-A7QW-01A-11D-A34A-08	44454879	149905114	5365446	50	35506											
PLXNB3	5365	broad.mit.edu	37	X	153032991	153032991	+	Missense_Mutation	SNP	G	G	C			TCGA-S9-A7QW-01A-11D-A34A-08	TCGA-S9-A7QW-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd3bb08-b9cb-493c-a634-6d10d975f62f	e5d478a9-7b9f-4b05-9cb0-01d860c3b005	g.chrX:153032991G>C	ENST00000538966.1	+	4	1049	c.778G>C	c.(778-780)Gcc>Ccc	p.A260P	PLXNB3_ENST00000361971.5_Missense_Mutation_p.A237P|PLXNB3_ENST00000538282.1_Intron|PLXNB3_ENST00000538776.1_Intron|PLXNB3_ENST00000538543.1_Intron	NM_001163257.1	NP_001156729.1	Q9ULL4	PLXB3_HUMAN	plexin B3	237	Sema.				axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity			central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					CTACGTCGGGGCCTTTGCCGA	0.721													19	12					0	0	1	0	0	C	153032991	G	C	153032991	3	2	445	1	0	0	0	0	1	0	0	0	12173	1203	42	5	833	5	PLXNB3	23	153032991	Missense_Mutation	SNP	G	TCGA-S9-A7QW-01A-11D-A34A-08	3127877	153032991	2237569	51	35507											
RABGAP1L	9910	broad.mit.edu	37	1	174926682	174926682	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A7QX-01A-11D-A34A-08	TCGA-S9-A7QX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	383e9041-2f85-417c-8824-0dafe5187fcc	3c3ec994-f86f-4708-bb2e-5cbc63b66c09	g.chr1:174926682A>G	ENST00000489615.1	+	3	787	c.386A>G	c.(385-387)tAc>tGc	p.Y129C	RABGAP1L_ENST00000367686.3_3'UTR|RABGAP1L_ENST00000486220.1_Missense_Mutation_p.Y67C|RABGAP1L_ENST00000478442.1_Missense_Mutation_p.Y67C|RABGAP1L_ENST00000347255.2_Missense_Mutation_p.Y137C|RABGAP1L_ENST00000251507.4_Missense_Mutation_p.Y810C|RABGAP1L_ENST00000367687.1_Missense_Mutation_p.Y136C|RABGAP1L_ENST00000392064.2_Missense_Mutation_p.Y67C|RABGAP1L_ENST00000325589.5_Missense_Mutation_p.Y117C	NM_001243765.1	NP_001230694.1	Q5R372	RBG1L_HUMAN	RAB GTPase activating protein 1-like	810	PID.				regulation of protein localization	early endosome|Golgi apparatus|nucleus	Rab GTPase activator activity			NS(1)|breast(2)|endometrium(4)|kidney(5)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(2)	45						ATGGATAGATACAAGGTATGA	0.423													12	26					0	0	1	0	0	G	174926682	A	G	174926682	3	3	446	1	0	0	0	0	1	0	0	0	13017	391	14	3	2618	3	RABGAP1L	1	174926682	Missense_Mutation	SNP	A	TCGA-S9-A7QX-01A-11D-A34A-08		174926682	74323939	1	35508											
C4BPA	722	broad.mit.edu	37	1	207287489	207287489	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7QX-01A-11D-A34A-08	TCGA-S9-A7QX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	383e9041-2f85-417c-8824-0dafe5187fcc	3c3ec994-f86f-4708-bb2e-5cbc63b66c09	g.chr1:207287489G>A	ENST00000367070.3	+	3	381	c.187G>A	c.(187-189)Gat>Aat	p.D63N		NM_000715.3	NP_000706.1	P04003	C4BPA_HUMAN	complement component 4 binding protein, alpha	63	Sushi 1.				complement activation, classical pathway|innate immune response	extracellular region	protein binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(1)|urinary_tract(2)	28						TGCCCCGATGGATATTACGTT	0.478													43	76					0	0	1	0	0	A	207287489	G	A	207287489	3	1	446	1	0	0	0	0	1	0	0	0	2264	1174	41	2	193	2	C4BPA	1	207287489	Missense_Mutation	SNP	G	TCGA-S9-A7QX-01A-11D-A34A-08	32360807	207287489	41963132	2	35509											
R3HDM1	23518	broad.mit.edu	37	2	136467088	136467088	+	Missense_Mutation	SNP	C	C	A			TCGA-S9-A7QX-01A-11D-A34A-08	TCGA-S9-A7QX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	383e9041-2f85-417c-8824-0dafe5187fcc	3c3ec994-f86f-4708-bb2e-5cbc63b66c09	g.chr2:136467088C>A	ENST00000264160.4	+	21	2810	c.2440C>A	c.(2440-2442)Caa>Aaa	p.Q814K	R3HDM1_ENST00000409606.1_Missense_Mutation_p.Q815K|R3HDM1_ENST00000409478.1_Missense_Mutation_p.Q686K|R3HDM1_ENST00000329971.3_Missense_Mutation_p.Q685K|R3HDM1_ENST00000410054.1_Missense_Mutation_p.Q759K	NM_001282798.1|NM_015361.2	NP_001269727.1|NP_056176.2	Q15032	R3HD1_HUMAN	R3H domain containing 1	814							nucleic acid binding			breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	38				BRCA - Breast invasive adenocarcinoma(221;0.127)		CCAGCAGCTTCAAGGCCACCA	0.383													3	39					1	1	1	1	0	A	136467088	C	A	136467088	3	1	446	1	0	0	0	0	1	0	0	0	12939	827	29	5	2514	5	R3HDM1	2	136467088	Missense_Mutation	SNP	C	TCGA-S9-A7QX-01A-11D-A34A-08		136467088	106732285	3	35510											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-S9-A7QX-01A-11D-A34A-08	TCGA-S9-A7QX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	383e9041-2f85-417c-8824-0dafe5187fcc	3c3ec994-f86f-4708-bb2e-5cbc63b66c09	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	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								34	58					0	0	1	0	0	T	209113112	C	T	209113112	3	4	446	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-S9-A7QX-01A-11D-A34A-08	72646024	209113112	34086261	4	35511											
ZBTB20	26137	broad.mit.edu	37	3	114058161	114058161	+	Silent	SNP	G	G	A			TCGA-S9-A7QX-01A-11D-A34A-08	TCGA-S9-A7QX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	383e9041-2f85-417c-8824-0dafe5187fcc	3c3ec994-f86f-4708-bb2e-5cbc63b66c09	g.chr3:114058161G>A	ENST00000462705.1	-	12	2519	c.1698C>T	c.(1696-1698)tgC>tgT	p.C566C	ZBTB20_ENST00000471418.1_Silent_p.C566C|ZBTB20_ENST00000481632.1_Silent_p.C566C|ZBTB20_ENST00000464560.1_Silent_p.C566C|ZBTB20_ENST00000393785.2_Silent_p.C566C|ZBTB20_ENST00000474710.1_Silent_p.C639C|ZBTB20_ENST00000357258.3_Silent_p.C566C	NM_001164343.1	NP_001157815.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	639					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		AGCGCTTGTTGCAGATACTAC	0.512													41	54					0	0	1	0	0	A	114058161	G	A	114058161	2	1	446	1	0	0	0	0	0	0	0	1	17588	1311	46	2		2	ZBTB20	3	114058161	Silent	SNP	G	TCGA-S9-A7QX-01A-11D-A34A-08		114058161	83964269	5	35512											
MED12L	116931	broad.mit.edu	37	3	151067902	151067902	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7QX-01A-11D-A34A-08	TCGA-S9-A7QX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	383e9041-2f85-417c-8824-0dafe5187fcc	3c3ec994-f86f-4708-bb2e-5cbc63b66c09	g.chr3:151067902G>A	ENST00000474524.1	+	15	2239	c.2201G>A	c.(2200-2202)gGc>gAc	p.G734D	P2RY12_ENST00000302632.3_Intron|MED12L_ENST00000273432.4_Missense_Mutation_p.G594D|MED12L_ENST00000491549.1_3'UTR	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	734					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TATGGAGTCGGCAAAGAGCGT	0.423													4	211					0	0	1	0	0	A	151067902	G	A	151067902	3	1	446	1	0	0	0	0	1	0	0	0	9479	1203	42	2	2259	2	MED12L	3	151067902	Missense_Mutation	SNP	G	TCGA-S9-A7QX-01A-11D-A34A-08	37009741	151067902	46954528	6	35513											
MED12L	116931	broad.mit.edu	37	3	151085530	151085530	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7QX-01A-11D-A34A-08	TCGA-S9-A7QX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	383e9041-2f85-417c-8824-0dafe5187fcc	3c3ec994-f86f-4708-bb2e-5cbc63b66c09	g.chr3:151085530G>A	ENST00000474524.1	+	22	3357	c.3319G>A	c.(3319-3321)Gca>Aca	p.A1107T	P2RY12_ENST00000302632.3_Intron|MED12L_ENST00000273432.4_Missense_Mutation_p.A967T	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	1107					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GCAGCATGTCGCACTTCCCTC	0.453													60	92					0	0	1	0	0	A	151085530	G	A	151085530	3	1	446	1	0	0	0	0	1	0	0	0	9479	1087	38	1	3405	1	MED12L	3	151085530	Missense_Mutation	SNP	G	TCGA-S9-A7QX-01A-11D-A34A-08	17628	151085530	46936900	7	35514											
ZBBX	79740	broad.mit.edu	37	3	167039968	167039968	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A7QX-01A-11D-A34A-08	TCGA-S9-A7QX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	383e9041-2f85-417c-8824-0dafe5187fcc	3c3ec994-f86f-4708-bb2e-5cbc63b66c09	g.chr3:167039968T>C	ENST00000392766.2	-	12	1260	c.920A>G	c.(919-921)aAt>aGt	p.N307S	ZBBX_ENST00000455345.2_Missense_Mutation_p.N307S|ZBBX_ENST00000307529.5_Missense_Mutation_p.N307S|ZBBX_ENST00000392767.2_Missense_Mutation_p.N307S|ZBBX_ENST00000392764.1_Missense_Mutation_p.N278S|ZBBX_ENST00000469220.1_Intron	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	307						intracellular	zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						AAGTTCAATATTAAGTGGTTC	0.279													29	46					0	0	1	0	0	C	167039968	T	C	167039968	3	2	446	1	0	0	0	0	1	0	0	0	17576	1493	52	3	1522	3	ZBBX	3	167039968	Missense_Mutation	SNP	T	TCGA-S9-A7QX-01A-11D-A34A-08	15954438	167039968	30982462	8	35515											
RGS12	6002	broad.mit.edu	37	4	3318022	3318022	+	Missense_Mutation	SNP	G	G	T			TCGA-S9-A7QX-01A-11D-A34A-08	TCGA-S9-A7QX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	383e9041-2f85-417c-8824-0dafe5187fcc	3c3ec994-f86f-4708-bb2e-5cbc63b66c09	g.chr4:3318022G>T	ENST00000336727.3	+	2	1029	c.125G>T	c.(124-126)tGt>tTt	p.C42F	RGS12_ENST00000344733.5_Missense_Mutation_p.C42F|RGS12_ENST00000543385.1_Missense_Mutation_p.C42F|RGS12_ENST00000382788.3_Missense_Mutation_p.C42F	NM_002926.3	NP_002917.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12	42	PDZ.					condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CAGGCACCCTGTGTGCTCAGC	0.612													26	30					1.64293e-13	1.86495e-13	1	1	0	T	3318022	G	T	3318022	3	4	446	1	0	0	0	0	1	0	0	0	13345	1377	48	5	127	5	RGS12	4	3318022	Missense_Mutation	SNP	G	TCGA-S9-A7QX-01A-11D-A34A-08		3318022	187836254	9	35516											
USP53	54532	broad.mit.edu	37	4	120193028	120193028	+	Missense_Mutation	SNP	G	G	C			TCGA-S9-A7QX-01A-11D-A34A-08	TCGA-S9-A7QX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	383e9041-2f85-417c-8824-0dafe5187fcc	3c3ec994-f86f-4708-bb2e-5cbc63b66c09	g.chr4:120193028G>C	ENST00000450251.1	+	12	2557	c.2013G>C	c.(2011-2013)gaG>gaC	p.E671D	USP53_ENST00000274030.6_Missense_Mutation_p.E671D			Q70EK8	UBP53_HUMAN	ubiquitin specific peptidase 53	671					ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	27						GCCTTGTAGAGGGTAAAGTGC	0.393													4	94					0	0	1	0	0	C	120193028	G	C	120193028	3	2	446	1	0	0	0	0	1	0	0	0	17144	991	35	4	2059	4	USP53	4	120193028	Missense_Mutation	SNP	G	TCGA-S9-A7QX-01A-11D-A34A-08	116875006	120193028	70961248	10	35517											
SPINK7	84651	broad.mit.edu	37	5	147693711	147693711	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A7QX-01A-11D-A34A-08	TCGA-S9-A7QX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	383e9041-2f85-417c-8824-0dafe5187fcc	3c3ec994-f86f-4708-bb2e-5cbc63b66c09	g.chr5:147693711C>T	ENST00000274565.4	+	3	197	c.136C>T	c.(136-138)Ccc>Tcc	p.P46S	SPINK7_ENST00000514394.1_3'UTR|RP11-373N22.3_ENST00000501695.3_RNA|SPINK7_ENST00000523535.1_Missense_Mutation_p.P20S	NM_032566.2	NP_115955.1	P58062	ISK7_HUMAN	serine peptidase inhibitor, Kazal type 7 (putative)	46	Kazal-like.					extracellular region	protein binding|serine-type endopeptidase inhibitor activity			large_intestine(2)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CATCCCCTGCCCCATCACATA	0.463													54	64					0	0	1	0	0	T	147693711	C	T	147693711	3	4	446	1	0	0	0	0	1	0	0	0	15120	623	22	2	146	2	SPINK7	5	147693711	Missense_Mutation	SNP	C	TCGA-S9-A7QX-01A-11D-A34A-08		147693711	33221549	11	35518											
LARP1	23367	broad.mit.edu	37	5	154190842	154190842	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A7QX-01A-11D-A34A-08	TCGA-S9-A7QX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	383e9041-2f85-417c-8824-0dafe5187fcc	3c3ec994-f86f-4708-bb2e-5cbc63b66c09	g.chr5:154190842A>G	ENST00000336314.4	+	17	2672	c.2648A>G	c.(2647-2649)tAt>tGt	p.Y883C		NM_015315.3	NP_056130.2	Q6PKG0	LARP1_HUMAN	La ribonucleoprotein domain family, member 1	960							protein binding|RNA binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TACTACAGTTATGGCCTGGAA	0.448													3	62					0	0	1	0	0	G	154190842	A	G	154190842	3	3	446	1	0	0	0	0	1	0	0	0	8667	449	16	3	2714	3	LARP1	5	154190842	Missense_Mutation	SNP	A	TCGA-S9-A7QX-01A-11D-A34A-08	6497131	154190842	26724418	12	35519											
RREB1	6239	broad.mit.edu	37	6	7240815	7240815	+	Missense_Mutation	SNP	T	T	A			TCGA-S9-A7QX-01A-11D-A34A-08	TCGA-S9-A7QX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	383e9041-2f85-417c-8824-0dafe5187fcc	3c3ec994-f86f-4708-bb2e-5cbc63b66c09	g.chr6:7240815T>A	ENST00000379938.2	+	11	4490	c.3953T>A	c.(3952-3954)gTt>gAt	p.V1318D	RREB1_ENST00000334984.6_Missense_Mutation_p.V1318D|RREB1_ENST00000379933.3_Intron|RREB1_ENST00000349384.6_Intron	NM_001003699.3|NM_001003700.1	NP_001003699.1|NP_001003700.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	1272					multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				GAGAGTGATGTTGGATCCCAT	0.507													25	22					0	0	1	0	0	A	7240815	T	A	7240815	3	1	446	1	0	0	0	0	1	0	0	0	13731	1725	60	5	3983	5	RREB1	6	7240815	Missense_Mutation	SNP	T	TCGA-S9-A7QX-01A-11D-A34A-08		7240815	163874252	13	35520											
EPB41L2	2037	broad.mit.edu	37	6	131215489	131215489	+	Missense_Mutation	SNP	G	G	C			TCGA-S9-A7QX-01A-11D-A34A-08	TCGA-S9-A7QX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	383e9041-2f85-417c-8824-0dafe5187fcc	3c3ec994-f86f-4708-bb2e-5cbc63b66c09	g.chr6:131215489G>C	ENST00000337057.3	-	10	1663	c.1482C>G	c.(1480-1482)ttC>ttG	p.F494L	EPB41L2_ENST00000527659.1_Missense_Mutation_p.F494L|EPB41L2_ENST00000368128.2_Missense_Mutation_p.F494L|EPB41L2_ENST00000445890.2_Missense_Mutation_p.F494L|EPB41L2_ENST00000530481.1_Missense_Mutation_p.F494L|EPB41L2_ENST00000525193.1_Missense_Mutation_p.F494L|EPB41L2_ENST00000525271.1_Missense_Mutation_p.F494L|EPB41L2_ENST00000392427.3_Missense_Mutation_p.F494L|EPB41L2_ENST00000529208.1_Missense_Mutation_p.F494L|EPB41L2_ENST00000527411.1_Missense_Mutation_p.F494L|EPB41L2_ENST00000528282.1_Missense_Mutation_p.F494L	NM_001431.3	NP_001422.1	O43491	E41L2_HUMAN	erythrocyte membrane protein band 4.1-like 2	494	FERM.				cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		ATTACCTGTAGAAAGTATGAT	0.493													4	160					0	0	1	0	0	C	131215489	G	C	131215489	3	2	446	1	0	0	0	0	1	0	0	0	5181	933	33	4	1575	4	EPB41L2	6	131215489	Missense_Mutation	SNP	G	TCGA-S9-A7QX-01A-11D-A34A-08	123974674	131215489	39899578	14	35521											
NUPL2	11097	broad.mit.edu	37	7	23236324	23236324	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A7QX-01A-11D-A34A-08	TCGA-S9-A7QX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	383e9041-2f85-417c-8824-0dafe5187fcc	3c3ec994-f86f-4708-bb2e-5cbc63b66c09	g.chr7:23236324A>G	ENST00000258742.5	+	5	807	c.548A>G	c.(547-549)aAt>aGt	p.N183S		NM_007342.2	NP_031368.1	O15504	NUPL2_HUMAN	nucleoporin like 2	183					carbohydrate metabolic process|glucose transport|mRNA transport|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nuclear pore	nuclear export signal receptor activity|nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CGTTTAATAAATCAATGGAGG	0.323													22	31					0	0	1	0	0	G	23236324	A	G	23236324	3	3	446	1	0	0	0	0	1	0	0	0	10823	101	4	3	566	3	NUPL2	7	23236324	Missense_Mutation	SNP	A	TCGA-S9-A7QX-01A-11D-A34A-08		23236324	135902339	15	35522											
POM121	9883	broad.mit.edu	37	7	72398976	72398976	+	Missense_Mutation	SNP	A	A	G	rs147859349		TCGA-S9-A7QX-01A-11D-A34A-08	TCGA-S9-A7QX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	383e9041-2f85-417c-8824-0dafe5187fcc	3c3ec994-f86f-4708-bb2e-5cbc63b66c09	g.chr7:72398976A>G	ENST00000395270.1	+	7	1322	c.281A>G	c.(280-282)aAt>aGt	p.N94S	POM121_ENST00000257622.4_Missense_Mutation_p.N94S|POM121_ENST00000358357.3_Missense_Mutation_p.N94S|POM121_ENST00000446813.1_Missense_Mutation_p.N94S|POM121_ENST00000434423.2_Missense_Mutation_p.N359S	NM_001257190.1	NP_001244119.1	Q96HA1	P121A_HUMAN	POM121 transmembrane nucleoporin	359	Pore side (Potential).|Required for targeting to the nucleus and nuclear pore complex.				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				CTGGTGGCCAATGGAGTCCCC	0.468													5	199					0	0	1	0	0	G	72398976	A	G	72398976	3	3	446	1	0	0	0	0	1	0	0	0	12287	101	4	3	291	3	POM121	7	72398976	Missense_Mutation	SNP	A	TCGA-S9-A7QX-01A-11D-A34A-08	49162652	72398976	86739687	16	35523											
CACNA2D1	781	broad.mit.edu	37	7	81591323	81591323	+	Missense_Mutation	SNP	A	A	T			TCGA-S9-A7QX-01A-11D-A34A-08	TCGA-S9-A7QX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	383e9041-2f85-417c-8824-0dafe5187fcc	3c3ec994-f86f-4708-bb2e-5cbc63b66c09	g.chr7:81591323A>T	ENST00000356860.3	-	36	3191	c.2853T>A	c.(2851-2853)gaT>gaA	p.D951E	CACNA2D1_ENST00000356253.5_Missense_Mutation_p.D963E|CACNA2D1_ENST00000535308.1_Missense_Mutation_p.D163E	NM_000722.2	NP_000713.2	P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	963						voltage-gated calcium channel complex	metal ion binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)	CCGTGAAGTCATCATCCTCCA	0.483													22	48					0	0	1	0	0	T	81591323	A	T	81591323	3	4	446	1	0	0	0	0	1	0	0	0	2566	214	8	4	438	4	CACNA2D1	7	81591323	Missense_Mutation	SNP	A	TCGA-S9-A7QX-01A-11D-A34A-08	9192347	81591323	77547340	17	35524											
ARPC1A	10552	broad.mit.edu	37	7	98984335	98984335	+	Nonstop_Mutation	SNP	A	A	T			TCGA-S9-A7QX-01A-11D-A34A-08	TCGA-S9-A7QX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	383e9041-2f85-417c-8824-0dafe5187fcc	3c3ec994-f86f-4708-bb2e-5cbc63b66c09	g.chr7:98984335A>T	ENST00000432884.2	+	13	1499	c.1038A>T	c.(1036-1038)tgA>tgT	p.*346C	ARPC1B_ENST00000451682.1_Missense_Mutation_p.E31V|ARPC1B_ENST00000474880.1_3'UTR|ARPC1B_ENST00000252725.5_Missense_Mutation_p.E31V			Q92747	ARC1A_HUMAN	actin related protein 2/3 complex, subunit 1A, 41kDa	0					actin cytoskeleton organization|regulation of actin filament polymerization	actin cytoskeleton|cytoplasm	actin binding			endometrium(3)|large_intestine(5)|liver(2)|lung(7)|ovary(1)|prostate(1)	19	all_cancers(62;4.46e-09)|all_epithelial(64;3.44e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0258)		STAD - Stomach adenocarcinoma(171;0.215)			AACAACCATGAGGTGCATATC	0.567													36	142					0	0	1	0	0	T	98984335	A	T	98984335	4	4	446	1	0	0	0	0	0	0	0	0	968	304	11	5		5	ARPC1A	7	98984335	Nonstop_Mutation	SNP	A	TCGA-S9-A7QX-01A-11D-A34A-08	17393012	98984335	60154328	18	35525											
RAB19	401409	broad.mit.edu	37	7	140125837	140125837	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7QX-01A-11D-A34A-08	TCGA-S9-A7QX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	383e9041-2f85-417c-8824-0dafe5187fcc	3c3ec994-f86f-4708-bb2e-5cbc63b66c09	g.chr7:140125837G>A	ENST00000275874.5	+	5	880	c.682G>A	c.(682-684)Gcg>Acg	p.A228T	RAB19_ENST00000356407.3_Missense_Mutation_p.A181T|RAB19_ENST00000537763.1_Missense_Mutation_p.A181T			A4D1S5	RAB19_HUMAN	RAB19, member RAS oncogene family	181					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding			breast(3)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	9	Melanoma(164;0.0142)					GGAGCTGATCGCGCGCAACAG	0.572													24	103					0	0	1	0	0	A	140125837	G	A	140125837	3	1	446	1	0	0	0	0	1	0	0	0	12956	1087	38	1	551	1	RAB19	7	140125837	Missense_Mutation	SNP	G	TCGA-S9-A7QX-01A-11D-A34A-08	41141502	140125837	19012826	19	35526											
HR	55806	broad.mit.edu	37	8	21986639	21986639	+	Missense_Mutation	SNP	C	C	A			TCGA-S9-A7QX-01A-11D-A34A-08	TCGA-S9-A7QX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	383e9041-2f85-417c-8824-0dafe5187fcc	3c3ec994-f86f-4708-bb2e-5cbc63b66c09	g.chr8:21986639C>A	ENST00000381418.4	-	2	1525	c.45G>T	c.(43-45)gaG>gaT	p.E15D	HR_ENST00000312841.8_Missense_Mutation_p.E15D	NM_005144.4	NP_005135.2	O43593	HAIR_HUMAN	hair growth associated	15							DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	27		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		GGGCCGTCTTCTCCCAGGTTG	0.657													4	78					0.150653	0.154328	1	1	0	A	21986639	C	A	21986639	3	1	446	1	0	0	0	0	1	0	0	0	7388	912	32	4	3596	4	HR	8	21986639	Missense_Mutation	SNP	C	TCGA-S9-A7QX-01A-11D-A34A-08		21986639	124377383	20	35527											
MAL2	114569	broad.mit.edu	37	8	120233832	120233832	+	Silent	SNP	C	C	T			TCGA-S9-A7QX-01A-11D-A34A-08	TCGA-S9-A7QX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	383e9041-2f85-417c-8824-0dafe5187fcc	3c3ec994-f86f-4708-bb2e-5cbc63b66c09	g.chr8:120233832C>T	ENST00000276681.6	+	3	240	c.138C>T	c.(136-138)ttC>ttT	p.F46F	RP11-4K16.2_ENST00000522828.1_lincRNA|MAL2_ENST00000521748.1_3'UTR	NM_052886.2	NP_443118.1	Q969L2	MAL2_HUMAN	mal, T-cell differentiation protein 2 (gene/pseudogene)	46	MARVEL.					apical plasma membrane|endomembrane system|integral to membrane|perinuclear region of cytoplasm	protein binding					all_cancers(13;1.91e-26)|Lung NSC(37;8.61e-08)|Ovarian(258;0.018)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.000967)			TTCAGCTGTTCGGGGGTCTTG	0.428													48	308					0	0	1	0	0	T	120233832	C	T	120233832	2	4	446	1	0	0	0	0	0	0	0	1	9250	883	31	1		1	MAL2	8	120233832	Silent	SNP	C	TCGA-S9-A7QX-01A-11D-A34A-08	98247193	120233832	26130190	21	35528											
LRRC14	9684	broad.mit.edu	37	8	145746678	145746678	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A7QX-01A-11D-A34A-08	TCGA-S9-A7QX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	383e9041-2f85-417c-8824-0dafe5187fcc	3c3ec994-f86f-4708-bb2e-5cbc63b66c09	g.chr8:145746678A>G	ENST00000292524.1	+	4	1444	c.1298A>G	c.(1297-1299)gAc>gGc	p.D433G	LRRC14_ENST00000529022.1_Missense_Mutation_p.D433G	NM_001272036.1|NM_014665.2	NP_001258965.1|NP_055480.1	Q15048	LRC14_HUMAN	leucine rich repeat containing 14	433										endometrium(1)|lung(3)|prostate(1)	5	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-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;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			TTCCCTGTGGACTGCTATGAG	0.627													26	45					0	0	1	0	0	G	145746678	A	G	145746678	3	3	446	1	0	0	0	0	1	0	0	0	9013	275	10	3	1308	3	LRRC14	8	145746678	Missense_Mutation	SNP	A	TCGA-S9-A7QX-01A-11D-A34A-08	25512846	145746678	617344	22	35529											
ADAMTSL1	92949	broad.mit.edu	37	9	18657637	18657637	+	Splice_Site	SNP	A	A	G			TCGA-S9-A7QX-01A-11D-A34A-08	TCGA-S9-A7QX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	383e9041-2f85-417c-8824-0dafe5187fcc	3c3ec994-f86f-4708-bb2e-5cbc63b66c09	g.chr9:18657637A>G	ENST00000380548.4	+	8	1174	c.835A>G	c.(835-837)Att>Gtt	p.I279V	ADAMTSL1_ENST00000276935.6_Splice_Site_p.I279V|ADAMTSL1_ENST00000380566.4_Splice_Site_p.I279V|ADAMTSL1_ENST00000327883.7_Splice_Site_p.I279V	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	279						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		ACTCCTGCAGATTCGTAACTC	0.483													21	21					0	0	1	0	0	G	18657637	A	G	18657637	5	3	446	1	0	0	0	0	0	0	1	0	273	347	12	3	865	3	ADAMTSL1	9	18657637	Splice_Site	SNP	A	TCGA-S9-A7QX-01A-11D-A34A-08		18657637	122555794	23	35530											
ABCA2	20	broad.mit.edu	37	9	139910252	139910252	+	Missense_Mutation	SNP	C	C	A			TCGA-S9-A7QX-01A-11D-A34A-08	TCGA-S9-A7QX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	383e9041-2f85-417c-8824-0dafe5187fcc	3c3ec994-f86f-4708-bb2e-5cbc63b66c09	g.chr9:139910252C>A	ENST00000265662.5	-	23	3536	c.3389G>T	c.(3388-3390)cGc>cTc	p.R1130L	ABCA2_ENST00000341511.6_Missense_Mutation_p.R1130L|ABCA2_ENST00000371605.3_Missense_Mutation_p.R1129L			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	1129	ABC transporter 1.				cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		GGACAGCTTGCGCTTCATGCC	0.672													30	24					1.30897e-18	1.52713e-18	1	1	0	A	139910252	C	A	139910252	3	1	446	1	0	0	0	0	1	0	0	0	32	768	27	5	4029	5	ABCA2	9	139910252	Missense_Mutation	SNP	C	TCGA-S9-A7QX-01A-11D-A34A-08	121252615	139910252	1303179	24	35531											
STOX1	219736	broad.mit.edu	37	10	70645061	70645061	+	Silent	SNP	A	A	G			TCGA-S9-A7QX-01A-11D-A34A-08	TCGA-S9-A7QX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	383e9041-2f85-417c-8824-0dafe5187fcc	3c3ec994-f86f-4708-bb2e-5cbc63b66c09	g.chr10:70645061A>G	ENST00000298596.6	+	3	1592	c.1509A>G	c.(1507-1509)cgA>cgG	p.R503R	STOX1_ENST00000399162.2_Intron|STOX1_ENST00000399165.4_Intron|STOX1_ENST00000421961.2_Silent_p.R393R|STOX1_ENST00000399169.4_Silent_p.R503R	NM_152709.4	NP_689922.3	Q6ZVD7	STOX1_HUMAN	storkhead box 1	503						cytoplasm|nucleolus	DNA binding			breast(5)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|prostate(1)|skin(3)	28						TGTCTCACCGAGGAAGCACAA	0.448													33	47					0	0	1	0	0	G	70645061	A	G	70645061	2	3	446	1	0	0	0	0	0	0	0	1	15375	291	11	3		3	STOX1	10	70645061	Silent	SNP	A	TCGA-S9-A7QX-01A-11D-A34A-08		70645061	64889686	25	35532											
KDM5A	5927	broad.mit.edu	37	12	442740	442740	+	Silent	SNP	G	G	C			TCGA-S9-A7QX-01A-11D-A34A-08	TCGA-S9-A7QX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	383e9041-2f85-417c-8824-0dafe5187fcc	3c3ec994-f86f-4708-bb2e-5cbc63b66c09	g.chr12:442740G>C	ENST00000399788.2	-	12	1928	c.1566C>G	c.(1564-1566)gcC>gcG	p.A522A	KDM5A_ENST00000382815.4_Silent_p.A522A	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN	lysine (K)-specific demethylase 5A	522	JmjC.				chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						ATAACTCGGGGGCCAGCTCTC	0.502			T	NUP98	AML								7	97					0	0	1	0	0	C	442740	G	C	442740	2	2	446	1	0	0	0	0	0	0	0	1	8176	1219	43	5		5	KDM5A	12	442740	Silent	SNP	G	TCGA-S9-A7QX-01A-11D-A34A-08		442740	133409155	26	35533											
TP53	7157	broad.mit.edu	37	17	7577610	7577610	+	Splice_Site	SNP	T	T	C			TCGA-S9-A7QX-01A-11D-A34A-08	TCGA-S9-A7QX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	383e9041-2f85-417c-8824-0dafe5187fcc	3c3ec994-f86f-4708-bb2e-5cbc63b66c09	g.chr17:7577610T>C	ENST00000420246.2	-	7	805		c.e7-2		TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000574684.1_Splice_Site|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000269305.4_Splice_Site|TP53_ENST00000445888.2_Splice_Site	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53						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.?(43)|p.0?(8)|p.V225fs*24(1)|p.E224_V225insXX(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)		AGAGCCAACCTAGGAGATAAC	0.522		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)			44	10					0	0	1	0	0	C	7577610	T	C	7577610	5	2	446	1	0	0	0	0	0	0	1	0	16442	1536	53	3	619	3	TP53	17	7577610	Splice_Site	SNP	T	TCGA-S9-A7QX-01A-11D-A34A-08		7577610	73617600	27	35534											
MYH13	8735	broad.mit.edu	37	17	10204939	10204939	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A7QX-01A-11D-A34A-08	TCGA-S9-A7QX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	383e9041-2f85-417c-8824-0dafe5187fcc	3c3ec994-f86f-4708-bb2e-5cbc63b66c09	g.chr17:10204939C>T	ENST00000418404.3	-	39	5912	c.5749G>A	c.(5749-5751)Gct>Act	p.A1917T	RP11-401O9.4_ENST00000609088.1_RNA|MYH13_ENST00000252172.4_Missense_Mutation_p.A1917T			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1917					muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						TGGGACTCAGCGATGTCCGCC	0.602													4	108					0	0	1	0	0	T	10204939	C	T	10204939	3	4	446	1	0	0	0	0	1	0	0	0	10080	768	27	1	75	1	MYH13	17	10204939	Missense_Mutation	SNP	C	TCGA-S9-A7QX-01A-11D-A34A-08	2627329	10204939	70990271	28	35535											
KRT31	3881	broad.mit.edu	37	17	39551856	39551856	+	Missense_Mutation	SNP	C	C	A			TCGA-S9-A7QX-01A-11D-A34A-08	TCGA-S9-A7QX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	383e9041-2f85-417c-8824-0dafe5187fcc	3c3ec994-f86f-4708-bb2e-5cbc63b66c09	g.chr17:39551856C>A	ENST00000251645.2	-	4	660	c.608G>T	c.(607-609)tGc>tTc	p.C203F		NM_002277.2	NP_002268.2	Q15323	K1H1_HUMAN	keratin 31	203	Coil 1B.|Rod.				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	31		Breast(137;0.000496)				TCCAAGCTGGCAGCGCAGGGT	0.517													20	26					8.34094e-07	8.98255e-07	1	1	0	A	39551856	C	A	39551856	3	1	446	1	0	0	0	0	1	0	0	0	8510	710	25	5	658	5	KRT31	17	39551856	Missense_Mutation	SNP	C	TCGA-S9-A7QX-01A-11D-A34A-08	29346917	39551856	41643354	29	35536											
STAT5B	6777	broad.mit.edu	37	17	40354366	40354366	+	Silent	SNP	G	G	A			TCGA-S9-A7QX-01A-11D-A34A-08	TCGA-S9-A7QX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	383e9041-2f85-417c-8824-0dafe5187fcc	3c3ec994-f86f-4708-bb2e-5cbc63b66c09	g.chr17:40354366G>A	ENST00000293328.3	-	18	2397	c.2229C>T	c.(2227-2229)taC>taT	p.Y743Y		NM_012448.3	NP_036580.2	P51692	STA5B_HUMAN	signal transducer and activator of transcription 5B	743					2-oxoglutarate metabolic process|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|JAK-STAT cascade involved in growth hormone signaling pathway|oxaloacetate metabolic process|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cytosol|nucleoplasm	calcium ion binding|glucocorticoid receptor binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_cancers(22;4.15e-07)|all_epithelial(22;2.83e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.135)	Dasatinib(DB01254)	ACTTCTGTGGGTACATGTTAT	0.632													9	24					0	0	1	0	0	A	40354366	G	A	40354366	2	1	446	1	0	0	0	0	0	0	0	1	15325	1256	44	2		2	STAT5B	17	40354366	Silent	SNP	G	TCGA-S9-A7QX-01A-11D-A34A-08	802510	40354366	40840844	30	35537											
MUC16	94025	broad.mit.edu	37	19	9047644	9047644	+	Missense_Mutation	SNP	G	G	T			TCGA-S9-A7QX-01A-11D-A34A-08	TCGA-S9-A7QX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	383e9041-2f85-417c-8824-0dafe5187fcc	3c3ec994-f86f-4708-bb2e-5cbc63b66c09	g.chr19:9047644G>T	ENST00000397910.4	-	5	34190	c.33987C>A	c.(33985-33987)gaC>gaA	p.D11329E		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11331	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TTGCACTGATGTCTCTCCCAG	0.507													15	131					4.7546e-09	5.25509e-09	1	1	0	T	9047644	G	T	9047644	3	4	446	1	0	0	0	0	1	0	0	0	10021	1368	48	5	9856	5	MUC16	19	9047644	Missense_Mutation	SNP	G	TCGA-S9-A7QX-01A-11D-A34A-08		9047644	50081339	31	35538											
PRX	57716	broad.mit.edu	37	19	40901999	40901999	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7QX-01A-11D-A34A-08	TCGA-S9-A7QX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	383e9041-2f85-417c-8824-0dafe5187fcc	3c3ec994-f86f-4708-bb2e-5cbc63b66c09	g.chr19:40901999G>A	ENST00000324001.7	-	7	2530	c.2260C>T	c.(2260-2262)Cgg>Tgg	p.R754W	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	754	55 X 5 AA approximate tandem repeats of [LVMAG]-[PSREQC]-[EDKL]-[LIVMAP]- [AQKHRPE]; that may have a tripeptide spacer of [LV]-P-[KER].				axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TCCGGCAGCCGAATCTCTGAC	0.597													53	96					0	0	1	0	0	A	40901999	G	A	40901999	3	1	446	1	0	0	0	0	1	0	0	0	12691	1057	37	1	2129	1	PRX	19	40901999	Missense_Mutation	SNP	G	TCGA-S9-A7QX-01A-11D-A34A-08	31854355	40901999	18226984	32	35539											
TSKS	60385	broad.mit.edu	37	19	50243411	50243411	+	Silent	SNP	G	G	A			TCGA-S9-A7QX-01A-11D-A34A-08	TCGA-S9-A7QX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	383e9041-2f85-417c-8824-0dafe5187fcc	3c3ec994-f86f-4708-bb2e-5cbc63b66c09	g.chr19:50243411G>A	ENST00000246801.3	-	10	1609	c.1527C>T	c.(1525-1527)caC>caT	p.H509H	TSKS_ENST00000358830.3_Silent_p.H309H	NM_021733.1	NP_068379.1	Q9UJT2	TSKS_HUMAN	testis-specific serine kinase substrate	509							protein binding			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		CTGCCCTGACGTGTTTGGCTA	0.647													27	35					0	0	1	0	0	A	50243411	G	A	50243411	2	1	446	1	0	0	0	0	0	0	0	1	16687	1136	40	1		1	TSKS	19	50243411	Silent	SNP	G	TCGA-S9-A7QX-01A-11D-A34A-08	9341412	50243411	8885572	33	35540											
BRSK1	84446	broad.mit.edu	37	19	55800958	55800958	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A7QX-01A-11D-A34A-08	TCGA-S9-A7QX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	383e9041-2f85-417c-8824-0dafe5187fcc	3c3ec994-f86f-4708-bb2e-5cbc63b66c09	g.chr19:55800958C>T	ENST00000309383.1	+	4	705	c.428C>T	c.(427-429)gCg>gTg	p.A143V	BRSK1_ENST00000590333.1_Missense_Mutation_p.A159V|BRSK1_ENST00000585418.1_Missense_Mutation_p.A143V	NM_032430.1	NP_115806.1	Q8TDC3	BRSK1_HUMAN	BR serine/threonine kinase 1	143	Protein kinase.				establishment of cell polarity|G2/M transition DNA damage checkpoint|neuron differentiation|response to UV	cell junction|cytoplasm|nucleus	magnesium ion binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(15)|ovary(2)|prostate(2)|skin(6)|stomach(1)	48		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0474)		ATTGTGTCTGCGCTGGACTTC	0.622													23	32					0	0	1	0	0	T	55800958	C	T	55800958	3	4	446	1	0	0	0	0	1	0	0	0	1525	768	27	1	442	1	BRSK1	19	55800958	Missense_Mutation	SNP	C	TCGA-S9-A7QX-01A-11D-A34A-08	5557547	55800958	3328025	34	35541											
FAM120C	54954	broad.mit.edu	37	X	54209078	54209078	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A7QX-01A-11D-A34A-08	TCGA-S9-A7QX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	383e9041-2f85-417c-8824-0dafe5187fcc	3c3ec994-f86f-4708-bb2e-5cbc63b66c09	g.chrX:54209078C>T	ENST00000375180.2	-	1	610	c.554G>A	c.(553-555)cGt>cAt	p.R185H	FAM120C_ENST00000477084.1_Missense_Mutation_p.R185H|FAM120C_ENST00000328235.4_Missense_Mutation_p.R185H|FAM120C_ENST00000497680.1_5'UTR	NM_017848.4	NP_060318.3	Q9NX05	F120C_HUMAN	family with sequence similarity 120C	185										breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						CTGGCACCGACGGCCCCACTC	0.721													5	9					0	0	1	0	0	T	54209078	C	T	54209078	3	4	446	1	0	0	0	0	1	0	0	0	5449	536	19	1	2822	1	FAM120C	23	54209078	Missense_Mutation	SNP	C	TCGA-S9-A7QX-01A-11D-A34A-08		54209078	101061482	35	35542											
ATRX	546	broad.mit.edu	37	X	76939883	76939883	+	Frame_Shift_Del	DEL	G	G	-			TCGA-S9-A7QX-01A-11D-A34A-08	TCGA-S9-A7QX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	383e9041-2f85-417c-8824-0dafe5187fcc	3c3ec994-f86f-4708-bb2e-5cbc63b66c09	g.chrX:76939883delG	ENST00000373344.5	-	9	1079	c.865delC	c.(865-867)cagfs	p.Q289fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.Q251fs	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	289	ADD.				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)	TGCAACAACTGTTCTAAATTC	0.348			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						118	193	---	---	---	---						-	76939883	G	-	76939883	7	5	446	1	0	1	0	1	0	0	0	0	1206	1386	48	0	6721	0	ATRX	23	76939883	Frame_Shift_Del	DEL	G	TCGA-S9-A7QX-01A-11D-A34A-08	22730805	76939883	78330677	36	35543											
HCFC1	3054	broad.mit.edu	37	X	153222180	153222180	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7QX-01A-11D-A34A-08	TCGA-S9-A7QX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	383e9041-2f85-417c-8824-0dafe5187fcc	3c3ec994-f86f-4708-bb2e-5cbc63b66c09	g.chrX:153222180G>A	ENST00000310441.7	-	15	3497	c.2531C>T	c.(2530-2532)aCc>aTc	p.T844I	HCFC1_ENST00000354233.3_Missense_Mutation_p.T775I|HCFC1_ENST00000369984.4_Missense_Mutation_p.T844I	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1 (VP16-accessory protein)	844	Interaction with GABP2.|Interaction with ZBTB17.				cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GCGGAGGATGGTGCCTGGCTG	0.647													40	13					0	0	1	0	0	A	153222180	G	A	153222180	3	1	446	1	0	0	0	0	1	0	0	0	7032	1261	44	2	3624	2	HCFC1	23	153222180	Missense_Mutation	SNP	G	TCGA-S9-A7QX-01A-11D-A34A-08	76282297	153222180	2048380	37	35544											
AKR7A2	8574	broad.mit.edu	37	1	19630776	19630776	+	Silent	SNP	A	A	G			TCGA-S9-A7QY-01A-11D-A34A-08	TCGA-S9-A7QY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b118d0f-04ee-4217-952b-9c720413fb1a	51e0f1be-6e26-4b2e-b79e-731ec9b5c4d8	g.chr1:19630776A>G	ENST00000235835.3	-	7	1044	c.1023T>C	c.(1021-1023)gaT>gaC	p.D341D		NM_003689.3	NP_003680.2	O43488	ARK72_HUMAN	aldo-keto reductase family 7, member A2 (aflatoxin aldehyde reductase)	341					carbohydrate metabolic process|cellular aldehyde metabolic process	Golgi apparatus	alditol:NADP+ 1-oxidoreductase activity|electron carrier activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00461)|BRCA - Breast invasive adenocarcinoma(304;1.83e-05)|Kidney(64;0.000167)|GBM - Glioblastoma multiforme(114;0.00115)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GATTAAAGGCATCCACGACAG	0.597													4	53					0	0	1	0	0	G	19630776	A	G	19630776	2	3	447	1	0	0	0	0	0	0	0	1	472	214	8	3		3	AKR7A2	1	19630776	Silent	SNP	A	TCGA-S9-A7QY-01A-11D-A34A-08		19630776	229619845	1	35545											
HSPG2	3339	broad.mit.edu	37	1	22150181	22150181	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A7QY-01A-11D-A34A-08	TCGA-S9-A7QY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b118d0f-04ee-4217-952b-9c720413fb1a	51e0f1be-6e26-4b2e-b79e-731ec9b5c4d8	g.chr1:22150181C>T	ENST00000374695.3	-	96	13010	c.12931G>A	c.(12931-12933)Ggt>Agt	p.G4311S	LDLRAD2_ENST00000543870.1_Intron|HSPG2_ENST00000486901.1_5'UTR|LDLRAD2_ENST00000344642.2_3'UTR	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	4311	Laminin G-like 3.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	AGCTCCTCACCGTCGACTTGG	0.647													4	36					0	0	1	0	0	T	22150181	C	T	22150181	3	4	447	1	0	0	0	0	1	0	0	0	7474	652	23	1	252	1	HSPG2	1	22150181	Missense_Mutation	SNP	C	TCGA-S9-A7QY-01A-11D-A34A-08	2519405	22150181	227100440	2	35546											
IQCC	55721	broad.mit.edu	37	1	32671760	32671760	+	Silent	SNP	C	C	T			TCGA-S9-A7QY-01A-11D-A34A-08	TCGA-S9-A7QY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b118d0f-04ee-4217-952b-9c720413fb1a	51e0f1be-6e26-4b2e-b79e-731ec9b5c4d8	g.chr1:32671760C>T	ENST00000537469.1	+	2	335	c.288C>T	c.(286-288)tgC>tgT	p.C96C	IQCC_ENST00000291358.6_Silent_p.C16C|RP4-622L5.7_ENST00000421616.1_RNA|RP4-622L5.7_ENST00000373604.4_RNA	NM_001160042.1	NP_001153514.1	Q4KMZ1	IQCC_HUMAN	IQ motif containing C	16										endometrium(4)|large_intestine(1)|lung(3)|ovary(4)|skin(2)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				ACCAGGCCTGCGTCCGGGGCT	0.602													4	73					0	0	1	0	0	T	32671760	C	T	32671760	2	4	447	1	0	0	0	0	0	0	0	1	7848	776	27	1		1	IQCC	1	32671760	Silent	SNP	C	TCGA-S9-A7QY-01A-11D-A34A-08	10521579	32671760	216578861	3	35547											
PTPRF	5792	broad.mit.edu	37	1	44035429	44035429	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7QY-01A-11D-A34A-08	TCGA-S9-A7QY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b118d0f-04ee-4217-952b-9c720413fb1a	51e0f1be-6e26-4b2e-b79e-731ec9b5c4d8	g.chr1:44035429G>A	ENST00000359947.4	+	6	888	c.548G>A	c.(547-549)cGc>cAc	p.R183H	PTPRF_ENST00000372414.3_Missense_Mutation_p.R183H|PTPRF_ENST00000372413.3_Missense_Mutation_p.R183H|PTPRF_ENST00000438120.1_Missense_Mutation_p.R183H	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	183	Ig-like C2-type 2.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				AGCAACGGCCGCATCAAGCAG	0.587													3	26					0	0	1	0	0	A	44035429	G	A	44035429	3	1	447	1	0	0	0	0	1	0	0	0	12853	1087	38	1	562	1	PTPRF	1	44035429	Missense_Mutation	SNP	G	TCGA-S9-A7QY-01A-11D-A34A-08	11363669	44035429	205215192	4	35548											
ZCCHC11	23318	broad.mit.edu	37	1	52940852	52940852	+	Silent	SNP	G	G	A	rs140552770	byFrequency	TCGA-S9-A7QY-01A-11D-A34A-08	TCGA-S9-A7QY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b118d0f-04ee-4217-952b-9c720413fb1a	51e0f1be-6e26-4b2e-b79e-731ec9b5c4d8	g.chr1:52940852G>A	ENST00000371544.3	-	13	2641	c.2379C>T	c.(2377-2379)caC>caT	p.H793H	ZCCHC11_ENST00000257177.4_Silent_p.H793H|ZCCHC11_ENST00000371541.1_5'UTR	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11	793					miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance	cytoplasm|nucleolus	nucleic acid binding|protein binding|RNA uridylyltransferase activity|zinc ion binding			NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						AGTCCTGTCCGTGGTCAGCAA	0.368													12	94					0	0	1	0	0	A	52940852	G	A	52940852	2	1	447	1	0	0	0	0	0	0	0	1	17639	1136	40	1		1	ZCCHC11	1	52940852	Silent	SNP	G	TCGA-S9-A7QY-01A-11D-A34A-08	8905423	52940852	196309769	5	35549											
LPAR3	23566	broad.mit.edu	37	1	85331538	85331538	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A7QY-01A-11D-A34A-08	TCGA-S9-A7QY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b118d0f-04ee-4217-952b-9c720413fb1a	51e0f1be-6e26-4b2e-b79e-731ec9b5c4d8	g.chr1:85331538T>C	ENST00000440886.1	-	1	304	c.266A>G	c.(265-267)aAc>aGc	p.N89S	LPAR3_ENST00000491034.1_5'UTR|LPAR3_ENST00000370611.3_Missense_Mutation_p.N89S			Q9UBY5	LPAR3_HUMAN	lysophosphatidic acid receptor 3	89					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane|intracellular membrane-bounded organelle				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|urinary_tract(1)	24						TGGGCCTGTGTTAAACATCAG	0.448													51	55					0	0	1	0	0	C	85331538	T	C	85331538	3	2	447	1	0	0	0	0	1	0	0	0	8951	1725	60	3	803	3	LPAR3	1	85331538	Missense_Mutation	SNP	T	TCGA-S9-A7QY-01A-11D-A34A-08	32390686	85331538	163919083	6	35550											
SPAG17	200162	broad.mit.edu	37	1	118657953	118657953	+	Nonsense_Mutation	SNP	G	G	A			TCGA-S9-A7QY-01A-11D-A34A-08	TCGA-S9-A7QY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b118d0f-04ee-4217-952b-9c720413fb1a	51e0f1be-6e26-4b2e-b79e-731ec9b5c4d8	g.chr1:118657953G>A	ENST00000336338.5	-	4	492	c.427C>T	c.(427-429)Cga>Tga	p.R143*		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	143	Lys-rich.		R -> Q (in dbSNP:rs12133381).			cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		TTTTCCCGTCGCTGTTGGTCC	0.418													6	67					0	0	1	0	0	A	118657953	G	A	118657953	4	1	447	1	0	0	0	0	0	1	0	0	15035	1095	38	1	6424	1	SPAG17	1	118657953	Nonsense_Mutation	SNP	G	TCGA-S9-A7QY-01A-11D-A34A-08	33326415	118657953	130592668	7	35551											
FLG	2312	broad.mit.edu	37	1	152282999	152282999	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7QY-01A-11D-A34A-08	TCGA-S9-A7QY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b118d0f-04ee-4217-952b-9c720413fb1a	51e0f1be-6e26-4b2e-b79e-731ec9b5c4d8	g.chr1:152282999G>A	ENST00000368799.1	-	3	4398	c.4363C>T	c.(4363-4365)Cac>Tac	p.H1455Y	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1455	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTCTGTCCGTGTGTGGACTCA	0.572									Ichthyosis				7	228					0	0	1	0	0	A	152282999	G	A	152282999	3	1	447	1	0	0	0	0	1	0	0	0	5955	1377	48	2	7826	2	FLG	1	152282999	Missense_Mutation	SNP	G	TCGA-S9-A7QY-01A-11D-A34A-08	33625046	152282999	96967622	8	35552											
METTL13	51603	broad.mit.edu	37	1	171765758	171765758	+	Silent	SNP	G	G	A			TCGA-S9-A7QY-01A-11D-A34A-08	TCGA-S9-A7QY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b118d0f-04ee-4217-952b-9c720413fb1a	51e0f1be-6e26-4b2e-b79e-731ec9b5c4d8	g.chr1:171765758G>A	ENST00000361735.3	+	8	2228	c.1962G>A	c.(1960-1962)ctG>ctA	p.L654L	METTL13_ENST00000367737.5_Silent_p.L498L|METTL13_ENST00000458517.1_Silent_p.L653L|METTL13_ENST00000466643.1_3'UTR|METTL13_ENST00000362019.3_Silent_p.L568L	NM_015935.4	NP_057019.3	Q8N6R0	MTL13_HUMAN	methyltransferase like 13	654							methyltransferase activity|protein binding			breast(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(8)|lung(17)|stomach(3)	41						TCTGTCAGCTGCACCCTGAGC	0.557													36	76					0	0	1	0	0	A	171765758	G	A	171765758	2	1	447	1	0	0	0	0	0	0	0	1	9547	1306	46	2		2	METTL13	1	171765758	Silent	SNP	G	TCGA-S9-A7QY-01A-11D-A34A-08	19482759	171765758	77484863	9	35553											
CCDC121	79635	broad.mit.edu	37	2	27850426	27850426	+	Missense_Mutation	SNP	C	C	G			TCGA-S9-A7QY-01A-11D-A34A-08	TCGA-S9-A7QY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b118d0f-04ee-4217-952b-9c720413fb1a	51e0f1be-6e26-4b2e-b79e-731ec9b5c4d8	g.chr2:27850426C>G	ENST00000324364.3	-	2	421	c.241G>C	c.(241-243)Gaa>Caa	p.E81Q	RP11-158I13.2_ENST00000505973.1_RNA|CCDC121_ENST00000394775.3_Missense_Mutation_p.E243Q|ZNF512_ENST00000556601.1_Intron	NM_024584.4	NP_078860.2	Q6ZUS5	CC121_HUMAN	coiled-coil domain containing 121	81										breast(1)|endometrium(3)|large_intestine(2)|lung(6)|prostate(2)	14	Acute lymphoblastic leukemia(172;0.155)					GAAATTTGTTCTGCATATCTG	0.398													76	171					0	0	1	0	0	G	27850426	C	G	27850426	3	3	447	1	0	0	0	0	1	0	0	0	2775	922	32	4	599	4	CCDC121	2	27850426	Missense_Mutation	SNP	C	TCGA-S9-A7QY-01A-11D-A34A-08		27850426	215348947	10	35554											
UGGT1	56886	broad.mit.edu	37	2	128941352	128941352	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A7QY-01A-11D-A34A-08	TCGA-S9-A7QY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b118d0f-04ee-4217-952b-9c720413fb1a	51e0f1be-6e26-4b2e-b79e-731ec9b5c4d8	g.chr2:128941352A>G	ENST00000375990.3	+	38	4679	c.4276A>G	c.(4276-4278)Aat>Gat	p.N1426D	UGGT1_ENST00000259253.6_Missense_Mutation_p.N1450D			Q9NYU2	UGGG1_HUMAN	UDP-glucose glycoprotein glucosyltransferase 1	1450	Glucosyltransferase (By similarity).				'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding			NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						CAGCCTTTCAAATCTTGATCA	0.413													12	21					0	0	1	0	0	G	128941352	A	G	128941352	3	3	447	1	0	0	0	0	1	0	0	0	17001	14	1	3	4498	3	UGGT1	2	128941352	Missense_Mutation	SNP	A	TCGA-S9-A7QY-01A-11D-A34A-08	101090926	128941352	114258021	11	35555											
ECEL1	9427	broad.mit.edu	37	2	233349567	233349567	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A7QY-01A-11D-A34A-08	TCGA-S9-A7QY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b118d0f-04ee-4217-952b-9c720413fb1a	51e0f1be-6e26-4b2e-b79e-731ec9b5c4d8	g.chr2:233349567C>T	ENST00000304546.1	-	5	1213	c.1003G>A	c.(1003-1005)Gtc>Atc	p.V335I	ECEL1_ENST00000409941.1_Missense_Mutation_p.V335I	NM_004826.2	NP_004817.2	O95672	ECEL1_HUMAN	endothelin converting enzyme-like 1	335					neuropeptide signaling pathway|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000771)|Lung(119;0.00213)|LUSC - Lung squamous cell carcinoma(224;0.00746)		ATGGAGCTGACATCTCGCCGT	0.612													6	56					0	0	1	0	0	T	233349567	C	T	233349567	3	4	447	1	0	0	0	0	1	0	0	0	4917	478	17	2	1380	2	ECEL1	2	233349567	Missense_Mutation	SNP	C	TCGA-S9-A7QY-01A-11D-A34A-08	104408215	233349567	9849806	12	35556											
QRICH1	54870	broad.mit.edu	37	3	49083858	49083858	+	Splice_Site	SNP	C	C	T			TCGA-S9-A7QY-01A-11D-A34A-08	TCGA-S9-A7QY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b118d0f-04ee-4217-952b-9c720413fb1a	51e0f1be-6e26-4b2e-b79e-731ec9b5c4d8	g.chr3:49083858C>T	ENST00000395443.2	-	5	2143	c.1671G>A	c.(1669-1671)aaG>aaA	p.K557K	QRICH1_ENST00000424300.1_Splice_Site_p.K557K|QRICH1_ENST00000357496.2_Splice_Site_p.K557K|QRICH1_ENST00000479449.1_5'UTR	NM_198880.1	NP_942581.1	Q2TAL8	QRIC1_HUMAN	glutamine-rich 1	557										breast(2)|endometrium(5)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25				BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		TGTTTCCTACCTTTTGAATAC	0.373													8	98					0	0	1	0	0	T	49083858	C	T	49083858	5	4	447	1	0	0	0	0	0	0	1	0	12931	695	24	2	683	2	QRICH1	3	49083858	Splice_Site	SNP	C	TCGA-S9-A7QY-01A-11D-A34A-08		49083858	148938572	13	35557											
SENP7	57337	broad.mit.edu	37	3	101090887	101090887	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A7QY-01A-11D-A34A-08	TCGA-S9-A7QY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b118d0f-04ee-4217-952b-9c720413fb1a	51e0f1be-6e26-4b2e-b79e-731ec9b5c4d8	g.chr3:101090887C>T	ENST00000394095.2	-	7	814	c.761G>A	c.(760-762)gGc>gAc	p.G254D	SENP7_ENST00000394094.2_Missense_Mutation_p.G189D|SENP7_ENST00000394091.1_Missense_Mutation_p.G90D|SENP7_ENST00000314261.7_Missense_Mutation_p.G188D|SENP7_ENST00000348610.3_Missense_Mutation_p.G221D|SENP7_ENST00000358203.3_Missense_Mutation_p.G90D	NM_001282802.1|NM_020654.3	NP_001269731.1|NP_065705.3	Q9BQF6	SENP7_HUMAN	SUMO1/sentrin specific peptidase 7	254					proteolysis	nucleus	cysteine-type peptidase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						AAGAGAAATGCCATCATCCTT	0.343													11	77					0	0	1	0	0	T	101090887	C	T	101090887	3	4	447	1	0	0	0	0	1	0	0	0	14105	739	26	2	2463	2	SENP7	3	101090887	Missense_Mutation	SNP	C	TCGA-S9-A7QY-01A-11D-A34A-08	52007029	101090887	96931543	14	35558											
ATP10D	57205	broad.mit.edu	37	4	47560219	47560219	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A7QY-01A-11D-A34A-08	TCGA-S9-A7QY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b118d0f-04ee-4217-952b-9c720413fb1a	51e0f1be-6e26-4b2e-b79e-731ec9b5c4d8	g.chr4:47560219C>T	ENST00000273859.3	+	12	2632	c.2363C>T	c.(2362-2364)tCc>tTc	p.S788F	AC092597.3_ENST00000508081.1_RNA	NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	788					ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						CACCCTCTTTCCAATCAAGTT	0.433													8	90					0	0	1	0	0	T	47560219	C	T	47560219	3	4	447	1	0	0	0	0	1	0	0	0	1117	855	30	2	2405	2	ATP10D	4	47560219	Missense_Mutation	SNP	C	TCGA-S9-A7QY-01A-11D-A34A-08		47560219	143594057	15	35559											
LRP2BP	55805	broad.mit.edu	37	4	186295495	186295495	+	Nonsense_Mutation	SNP	G	G	A			TCGA-S9-A7QY-01A-11D-A34A-08	TCGA-S9-A7QY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b118d0f-04ee-4217-952b-9c720413fb1a	51e0f1be-6e26-4b2e-b79e-731ec9b5c4d8	g.chr4:186295495G>A	ENST00000362004.3	-	4	1268	c.457C>T	c.(457-459)Cga>Tga	p.R153*	LRP2BP_ENST00000510776.1_Nonsense_Mutation_p.R125*|LRP2BP_ENST00000505916.1_Nonsense_Mutation_p.R151*|RP11-714G18.1_ENST00000514884.1_RNA|LRP2BP_ENST00000328559.7_Nonsense_Mutation_p.R151*			Q9P2M1	LR2BP_HUMAN	LRP2 binding protein	151						cytoplasm	protein binding			breast(1)|endometrium(2)|large_intestine(6)|lung(3)|prostate(1)|skin(2)	15		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;0.00109)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;2.14e-25)|Epithelial(43;1.55e-22)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-11)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.000132)|STAD - Stomach adenocarcinoma(60;0.000766)|Colorectal(24;0.00116)|LUSC - Lung squamous cell carcinoma(40;0.00904)|COAD - Colon adenocarcinoma(29;0.0101)|READ - Rectum adenocarcinoma(43;0.161)		TCATTTGATCGTTTAACACCT	0.388													5	75					0	0	1	0	0	A	186295495	G	A	186295495	4	1	447	1	0	0	0	0	0	1	0	0	9002	1153	40	1	612	1	LRP2BP	4	186295495	Nonsense_Mutation	SNP	G	TCGA-S9-A7QY-01A-11D-A34A-08	138735276	186295495	4858781	16	35560											
ADCY2	108	broad.mit.edu	37	5	7520964	7520964	+	Silent	SNP	C	C	T			TCGA-S9-A7QY-01A-11D-A34A-08	TCGA-S9-A7QY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b118d0f-04ee-4217-952b-9c720413fb1a	51e0f1be-6e26-4b2e-b79e-731ec9b5c4d8	g.chr5:7520964C>T	ENST00000338316.4	+	3	611	c.522C>T	c.(520-522)agC>agT	p.S174S		NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	174					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						TCGTGCTTAGCGTCTGCCTGT	0.582													25	46					0	0	1	0	0	T	7520964	C	T	7520964	2	4	447	1	0	0	0	0	0	0	0	1	293	767	27	1		1	ADCY2	5	7520964	Silent	SNP	C	TCGA-S9-A7QY-01A-11D-A34A-08		7520964	173394296	17	35561											
ZFR	51663	broad.mit.edu	37	5	32407029	32407029	+	Silent	SNP	A	A	T	rs139769264		TCGA-S9-A7QY-01A-11D-A34A-08	TCGA-S9-A7QY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b118d0f-04ee-4217-952b-9c720413fb1a	51e0f1be-6e26-4b2e-b79e-731ec9b5c4d8	g.chr5:32407029A>T	ENST00000265069.8	-	6	984	c.882T>A	c.(880-882)gcT>gcA	p.A294A		NM_016107.3	NP_057191.2	Q96KR1	ZFR_HUMAN	zinc finger RNA binding protein	294	Ala-rich.				multicellular organismal development	chromosome|cytoplasm|nucleus	DNA binding|RNA binding|zinc ion binding	p.A294A(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2)	32				STAD - Stomach adenocarcinoma(35;0.19)		cagcagcagcagctgctgctg	0.483													3	46					0	0	1	0	0	T	32407029	A	T	32407029	2	4	447	1	0	0	0	0	0	0	0	1	17717	175	7	5		5	ZFR	5	32407029	Silent	SNP	A	TCGA-S9-A7QY-01A-11D-A34A-08	24886065	32407029	148508231	18	35562											
CCNB1	891	broad.mit.edu	37	5	68470917	68470917	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A7QY-01A-11D-A34A-08	TCGA-S9-A7QY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b118d0f-04ee-4217-952b-9c720413fb1a	51e0f1be-6e26-4b2e-b79e-731ec9b5c4d8	g.chr5:68470917C>T	ENST00000256442.5	+	6	1172	c.919C>T	c.(919-921)Cgg>Tgg	p.R307W		NM_031966.3	NP_114172.1	P14635	CCNB1_HUMAN	cyclin B1	307					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitotic cell cycle spindle checkpoint|mitotic metaphase plate congression|mitotic prometaphase|mitotic spindle stabilization|positive regulation of attachment of spindle microtubules to kinetochore|positive regulation of mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of cyclin-dependent protein kinase activity	condensed nuclear chromosome outer kinetochore|cytosol|microtubule organizing center|nucleoplasm|spindle pole				large_intestine(2)|lung(5)|skin(1)	8		Lung NSC(167;5.51e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.24e-56)|Epithelial(20;1.12e-52)|all cancers(19;2.63e-48)|Lung(70;0.0177)		GCACTTCCTTCGGAGAGCATC	0.448													41	79					0	0	1	0	0	T	68470917	C	T	68470917	3	4	447	1	0	0	0	0	1	0	0	0	2933	875	31	1	941	1	CCNB1	5	68470917	Missense_Mutation	SNP	C	TCGA-S9-A7QY-01A-11D-A34A-08	36063888	68470917	112444343	19	35563											
PPIP5K2	23262	broad.mit.edu	37	5	102519070	102519070	+	Silent	SNP	T	T	C			TCGA-S9-A7QY-01A-11D-A34A-08	TCGA-S9-A7QY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b118d0f-04ee-4217-952b-9c720413fb1a	51e0f1be-6e26-4b2e-b79e-731ec9b5c4d8	g.chr5:102519070T>C	ENST00000321521.9	+	25	3631	c.3058T>C	c.(3058-3060)Ttg>Ctg	p.L1020L	PPIP5K2_ENST00000358359.3_Silent_p.L1020L|PPIP5K2_ENST00000414217.1_Silent_p.L1020L|PPIP5K2_ENST00000513500.1_3'UTR			O43314	VIP2_HUMAN	diphosphoinositol pentakisphosphate kinase 2	1020					inositol metabolic process	cytosol	acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						CCCCAAATCATTGGCTTTCAC	0.453													25	77					0	0	1	0	0	C	102519070	T	C	102519070	2	2	447	1	0	0	0	0	0	0	0	1	12382	1490	52	3		3	PPIP5K2	5	102519070	Silent	SNP	T	TCGA-S9-A7QY-01A-11D-A34A-08	34048153	102519070	78396190	20	35564											
ADAMTS19	171019	broad.mit.edu	37	5	128994350	128994350	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A7QY-01A-11D-A34A-08	TCGA-S9-A7QY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b118d0f-04ee-4217-952b-9c720413fb1a	51e0f1be-6e26-4b2e-b79e-731ec9b5c4d8	g.chr5:128994350A>G	ENST00000274487.4	+	15	2472	c.2327A>G	c.(2326-2328)gAa>gGa	p.E776G	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	776	Cys-rich.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		CTTGCAAGAGAAGATCATTGT	0.353													8	151					0	0	1	0	0	G	128994350	A	G	128994350	3	3	447	1	0	0	0	0	1	0	0	0	263	246	9	3	2385	3	ADAMTS19	5	128994350	Missense_Mutation	SNP	A	TCGA-S9-A7QY-01A-11D-A34A-08	26475280	128994350	51920910	21	35565											
PCDHB7	56129	broad.mit.edu	37	5	140552628	140552628	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A7QY-01A-11D-A34A-08	TCGA-S9-A7QY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b118d0f-04ee-4217-952b-9c720413fb1a	51e0f1be-6e26-4b2e-b79e-731ec9b5c4d8	g.chr5:140552628A>G	ENST00000231137.3	+	1	386	c.212A>G	c.(211-213)aAc>aGc	p.N71S		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN		71	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCAGACCAGAACATGCAAATT	0.493													4	80					0	0	1	0	0	G	140552628	A	G	140552628	3	3	447	1	0	0	0	0	1	0	0	0	11594	43	2	3	214	3	PCDHB7	5	140552628	Missense_Mutation	SNP	A	TCGA-S9-A7QY-01A-11D-A34A-08	11558278	140552628	40362632	22	35566											
BNIP1	662	broad.mit.edu	37	5	172590905	172590905	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7QY-01A-11D-A34A-08	TCGA-S9-A7QY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b118d0f-04ee-4217-952b-9c720413fb1a	51e0f1be-6e26-4b2e-b79e-731ec9b5c4d8	g.chr5:172590905G>A	ENST00000231668.9	+	7	901	c.797G>A	c.(796-798)cGg>cAg	p.R266Q	BNIP1_ENST00000351486.5_Missense_Mutation_p.R223Q|BNIP1_ENST00000352523.6_Missense_Mutation_p.R232Q|BNIP1_ENST00000393770.4_Missense_Mutation_p.R189Q	NM_013979.2	NP_053582.2	Q12981	SEC20_HUMAN	BCL2/adenovirus E1B 19kDa interacting protein 1	223					anti-apoptosis|apoptosis|endoplasmic reticulum membrane fusion|endoplasmic reticulum organization|induction of apoptosis|vesicle-mediated transport	integral to endoplasmic reticulum membrane|nuclear envelope|SNARE complex	protein binding			breast(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|skin(1)	11	Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			GTGAAAAAGCGGCTCTTTCCA	0.493													35	85					0	0	1	0	0	A	172590905	G	A	172590905	3	1	447	1	0	0	0	0	1	0	0	0	1475	1116	39	1	823	1	BNIP1	5	172590905	Missense_Mutation	SNP	G	TCGA-S9-A7QY-01A-11D-A34A-08	32038277	172590905	8324355	23	35567											
HK3	3101	broad.mit.edu	37	5	176316702	176316702	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A7QY-01A-11D-A34A-08	TCGA-S9-A7QY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b118d0f-04ee-4217-952b-9c720413fb1a	51e0f1be-6e26-4b2e-b79e-731ec9b5c4d8	g.chr5:176316702C>T	ENST00000292432.5	-	7	765	c.674G>A	c.(673-675)gGc>gAc	p.G225D		NM_002115.2	NP_002106.2	P52790	HXK3_HUMAN	hexokinase 3 (white cell)	225	Regulatory.				glucose transport|glycolysis|transmembrane transport	cytosol|membrane	ATP binding|glucokinase activity			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CATCATGGTGCCCACTGTGTC	0.587													6	49					0	0	1	0	0	T	176316702	C	T	176316702	3	4	447	1	0	0	0	0	1	0	0	0	7233	739	26	2	2149	2	HK3	5	176316702	Missense_Mutation	SNP	C	TCGA-S9-A7QY-01A-11D-A34A-08	3725797	176316702	4598558	24	35568											
SLC17A2	10246	broad.mit.edu	37	6	25913553	25913553	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7QY-01A-11D-A34A-08	TCGA-S9-A7QY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b118d0f-04ee-4217-952b-9c720413fb1a	51e0f1be-6e26-4b2e-b79e-731ec9b5c4d8	g.chr6:25913553G>A	ENST00000377850.3	-	12	1953	c.1429C>T	c.(1429-1431)Cgc>Tgc	p.R477C	SLC17A2_ENST00000265425.3_3'UTR|SLC17A2_ENST00000360488.3_Silent_p.P427P			O00624	NPT3_HUMAN	solute carrier family 17, member 2	0					phosphate metabolic process	integral to plasma membrane|membrane fraction	sodium:phosphate symporter activity	p.P427P(2)		endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	31						CCTCAGAGGCGGGTAAGGGTC	0.428													9	116					0	0	1	0	0	A	25913553	G	A	25913553	3	1	447	1	0	0	0	0	1	0	0	0	14472	1103	39	1	33	1	SLC17A2	6	25913553	Missense_Mutation	SNP	G	TCGA-S9-A7QY-01A-11D-A34A-08		25913553	145201514	25	35569											
STK19	8859	broad.mit.edu	37	6	31948281	31948281	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A7QY-01A-11D-A34A-08	TCGA-S9-A7QY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b118d0f-04ee-4217-952b-9c720413fb1a	51e0f1be-6e26-4b2e-b79e-731ec9b5c4d8	g.chr6:31948281T>C	ENST00000375331.2	+	6	1023	c.857T>C	c.(856-858)cTa>cCa	p.L286P	STK19_ENST00000375333.2_Missense_Mutation_p.L290P	NM_004197.1	NP_004188.1	P49842	STK19_HUMAN	serine/threonine kinase 19	290						nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			skin(5)|upper_aerodigestive_tract(2)	7						AGCTGGTGGCTAGCTGTGCCT	0.577													3	47					0	0	1	0	0	C	31948281	T	C	31948281	3	2	447	1	0	0	0	0	1	0	0	0	15348	1522	53	3	891	3	STK19	6	31948281	Missense_Mutation	SNP	T	TCGA-S9-A7QY-01A-11D-A34A-08	6034728	31948281	139166786	26	35570											
DNAH8	1769	broad.mit.edu	37	6	38790794	38790794	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7QY-01A-11D-A34A-08	TCGA-S9-A7QY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b118d0f-04ee-4217-952b-9c720413fb1a	51e0f1be-6e26-4b2e-b79e-731ec9b5c4d8	g.chr6:38790794G>A	ENST00000359357.3	+	25	3307	c.3053G>A	c.(3052-3054)cGc>cAc	p.R1018H	DNAH8_ENST00000441566.1_Missense_Mutation_p.R1018H|DNAH8_ENST00000449981.2_Missense_Mutation_p.R1235H					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						ACAGAGGACCGCGATGTGAAA	0.453													23	39					0	0	1	0	0	A	38790794	G	A	38790794	3	1	447	1	0	0	0	0	1	0	0	0	4634	1087	38	1	3143	1	DNAH8	6	38790794	Missense_Mutation	SNP	G	TCGA-S9-A7QY-01A-11D-A34A-08	6842513	38790794	132324273	27	35571											
ZNF318	24149	broad.mit.edu	37	6	43305390	43305390	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A7QY-01A-11D-A34A-08	TCGA-S9-A7QY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b118d0f-04ee-4217-952b-9c720413fb1a	51e0f1be-6e26-4b2e-b79e-731ec9b5c4d8	g.chr6:43305390C>T	ENST00000361428.2	-	10	6423	c.6346G>A	c.(6346-6348)Ggc>Agc	p.G2116S	ZNF318_ENST00000318149.3_Intron	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	2116					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			CCCCCCAAGCCACGGTCAACA	0.468													5	57					0	0	1	0	0	T	43305390	C	T	43305390	3	4	447	1	0	0	0	0	1	0	0	0	17893	594	21	2	497	2	ZNF318	6	43305390	Missense_Mutation	SNP	C	TCGA-S9-A7QY-01A-11D-A34A-08	4514596	43305390	127809677	28	35572											
REPS1	85021	broad.mit.edu	37	6	139264996	139264996	+	Missense_Mutation	SNP	T	T	G			TCGA-S9-A7QY-01A-11D-A34A-08	TCGA-S9-A7QY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b118d0f-04ee-4217-952b-9c720413fb1a	51e0f1be-6e26-4b2e-b79e-731ec9b5c4d8	g.chr6:139264996T>G	ENST00000450536.2	-	6	1484	c.910A>C	c.(910-912)Att>Ctt	p.I304L	REPS1_ENST00000258062.5_Missense_Mutation_p.I304L|REPS1_ENST00000415951.2_Missense_Mutation_p.I304L|REPS1_ENST00000367663.4_Missense_Mutation_p.I304L|REPS1_ENST00000409812.2_Missense_Mutation_p.I304L			Q96D71	REPS1_HUMAN	RALBP1 associated Eps domain containing 1	304	EH 2.					coated pit|plasma membrane	calcium ion binding|SH3 domain binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	19				GBM - Glioblastoma multiforme(68;0.000434)|OV - Ovarian serous cystadenocarcinoma(155;0.000548)		TCACCTGGAATAAATCCGTTT	0.328													21	47					0	0	1	0	0	G	139264996	T	G	139264996	3	3	447	1	0	0	0	0	1	0	0	0	13280	1406	49	4	1540	4	REPS1	6	139264996	Missense_Mutation	SNP	T	TCGA-S9-A7QY-01A-11D-A34A-08	95959606	139264996	31850071	29	35573											
GLI3	2737	broad.mit.edu	37	7	42011989	42011989	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A7QY-01A-11D-A34A-08	TCGA-S9-A7QY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b118d0f-04ee-4217-952b-9c720413fb1a	51e0f1be-6e26-4b2e-b79e-731ec9b5c4d8	g.chr7:42011989A>G	ENST00000395925.3	-	13	2134	c.2050T>C	c.(2050-2052)Tca>Cca	p.S684P	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	684					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						TCCCGCTTTGAGGTAGTGTTG	0.562									Pallister-Hall syndrome;Greig Cephalopolysyndactyly				11	143					0	0	1	0	0	G	42011989	A	G	42011989	3	3	447	1	0	0	0	0	1	0	0	0	6481	304	11	3	2704	3	GLI3	7	42011989	Missense_Mutation	SNP	A	TCGA-S9-A7QY-01A-11D-A34A-08		42011989	117126674	30	35574											
ZSCAN21	7589	broad.mit.edu	37	7	99662020	99662020	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A7QY-01A-11D-A34A-08	TCGA-S9-A7QY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b118d0f-04ee-4217-952b-9c720413fb1a	51e0f1be-6e26-4b2e-b79e-731ec9b5c4d8	g.chr7:99662020C>T	ENST00000292450.4	+	4	1366	c.1202C>T	c.(1201-1203)gCg>gTg	p.A401V	ZSCAN21_ENST00000456748.2_Missense_Mutation_p.R367W|ZSCAN21_ENST00000543588.1_Missense_Mutation_p.R367W|ZNF3_ENST00000413658.2_3'UTR	NM_145914.2	NP_666019.1	Q9Y5A6	ZSC21_HUMAN	zinc finger and SCAN domain containing 21	401					positive regulation of transcription, DNA-dependent|viral reproduction	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|skin(1)	21	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			AGTCAGCATGCGGGCCTCAGC	0.522													4	120					0	0	1	0	0	T	99662020	C	T	99662020	3	4	447	1	0	0	0	0	1	0	0	0	18274	768	27	1	1212	1	ZSCAN21	7	99662020	Missense_Mutation	SNP	C	TCGA-S9-A7QY-01A-11D-A34A-08	57650031	99662020	59476643	31	35575											
RBM28	55131	broad.mit.edu	37	7	127983808	127983808	+	Missense_Mutation	SNP	A	A	C			TCGA-S9-A7QY-01A-11D-A34A-08	TCGA-S9-A7QY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b118d0f-04ee-4217-952b-9c720413fb1a	51e0f1be-6e26-4b2e-b79e-731ec9b5c4d8	g.chr7:127983808A>C	ENST00000223073.2	-	1	154	c.40T>G	c.(40-42)Tcg>Gcg	p.S14A	RBM28_ENST00000415472.2_Missense_Mutation_p.S14A	NM_018077.2	NP_060547.2	Q9NW13	RBM28_HUMAN	RNA binding motif protein 28		RRM 1.				mRNA processing|RNA splicing	Golgi apparatus|nucleolus|spliceosomal complex	nucleotide binding|RNA binding			breast(1)|kidney(7)|large_intestine(3)|lung(8)|ovary(2)	21						CTGCGGGCCGAGGGCGGGAGG	0.662													3	19					0	0	1	0	0	C	127983808	A	C	127983808	3	2	447	1	0	0	0	0	1	0	0	0	13180	304	11	5	2315	5	RBM28	7	127983808	Missense_Mutation	SNP	A	TCGA-S9-A7QY-01A-11D-A34A-08	28321788	127983808	31154855	32	35576											
WDR91	29062	broad.mit.edu	37	7	134891927	134891927	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7QY-01A-11D-A34A-08	TCGA-S9-A7QY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b118d0f-04ee-4217-952b-9c720413fb1a	51e0f1be-6e26-4b2e-b79e-731ec9b5c4d8	g.chr7:134891927G>A	ENST00000354475.4	-	4	570	c.539C>T	c.(538-540)gCg>gTg	p.A180V	WDR91_ENST00000344400.5_Missense_Mutation_p.A180V|WDR91_ENST00000423565.1_Missense_Mutation_p.A145V	NM_014149.3	NP_054868.3	A4D1P6	WDR91_HUMAN	WD repeat domain 91	180								p.A180V(1)		breast(3)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	40						CTGACACTCCGCATCAAAGTT	0.458													4	86					0	0	1	0	0	A	134891927	G	A	134891927	3	1	447	1	0	0	0	0	1	0	0	0	17398	1087	38	1	1752	1	WDR91	7	134891927	Missense_Mutation	SNP	G	TCGA-S9-A7QY-01A-11D-A34A-08	6908119	134891927	24246736	33	35577											
MTPN	136319	broad.mit.edu	37	7	135614721	135614721	+	Missense_Mutation	SNP	C	C	A			TCGA-S9-A7QY-01A-11D-A34A-08	TCGA-S9-A7QY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b118d0f-04ee-4217-952b-9c720413fb1a	51e0f1be-6e26-4b2e-b79e-731ec9b5c4d8	g.chr7:135614721C>A	ENST00000393085.3	-	4	525	c.310G>T	c.(310-312)Gcc>Tcc	p.A104S	AC015987.1_ENST00000419211.1_RNA|MTPN_ENST00000435723.1_Missense_Mutation_p.A38S	NM_001128619.2|NM_145808.3	NP_001122091.2|NP_665807.1	P58546	MTPN_HUMAN	myotrophin	104					cell growth|regulation of striated muscle tissue development|regulation of translation	cytoplasm	protein binding	p.A104T(1)		endometrium(1)|lung(4)|prostate(1)	6						GCTTCAAAGGCGGTCAGTCCA	0.502													16	221					4.63292e-17	5.1206e-17	1	1	0	A	135614721	C	A	135614721	3	1	447	1	0	0	0	0	1	0	0	0	10005	768	27	5	50	5	MTPN	7	135614721	Missense_Mutation	SNP	C	TCGA-S9-A7QY-01A-11D-A34A-08	722794	135614721	23523942	34	35578											
RGS22	26166	broad.mit.edu	37	8	101075815	101075815	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7QY-01A-11D-A34A-08	TCGA-S9-A7QY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b118d0f-04ee-4217-952b-9c720413fb1a	51e0f1be-6e26-4b2e-b79e-731ec9b5c4d8	g.chr8:101075815G>A	ENST00000360863.6	-	8	1375	c.1181C>T	c.(1180-1182)cCa>cTa	p.P394L	RGS22_ENST00000523437.1_Missense_Mutation_p.P382L|RGS22_ENST00000523287.1_Missense_Mutation_p.P213L	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	394					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity		RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			CCTGCTCTCTGGTCCAGCGCT	0.368													11	95					0	0	1	0	0	A	101075815	G	A	101075815	3	1	447	1	0	0	0	0	1	0	0	0	13355	1348	47	2	2693	2	RGS22	8	101075815	Missense_Mutation	SNP	G	TCGA-S9-A7QY-01A-11D-A34A-08		101075815	45288207	35	35579											
OR13J1	392309	broad.mit.edu	37	9	35869709	35869709	+	Silent	SNP	C	C	T			TCGA-S9-A7QY-01A-11D-A34A-08	TCGA-S9-A7QY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b118d0f-04ee-4217-952b-9c720413fb1a	51e0f1be-6e26-4b2e-b79e-731ec9b5c4d8	g.chr9:35869709C>T	ENST00000377981.2	-	1	752	c.690G>A	c.(688-690)tcG>tcA	p.S230S		NM_001004487.1	NP_001004487.1	Q8NGT2	O13J1_HUMAN	olfactory receptor, family 13, subfamily J, member 1	230					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|large_intestine(1)|lung(3)|skin(1)	6	all_epithelial(49;0.169)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00494)|STAD - Stomach adenocarcinoma(86;0.194)			ACCTGGCGGCCGAGGGCACCC	0.587													3	36					0	0	1	0	0	T	35869709	C	T	35869709	2	4	447	1	0	0	0	0	0	0	0	1	10992	639	23	1		1	OR13J1	9	35869709	Silent	SNP	C	TCGA-S9-A7QY-01A-11D-A34A-08		35869709	105343722	36	35580											
ZEB1	6935	broad.mit.edu	37	10	31809579	31809579	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A7QY-01A-11D-A34A-08	TCGA-S9-A7QY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b118d0f-04ee-4217-952b-9c720413fb1a	51e0f1be-6e26-4b2e-b79e-731ec9b5c4d8	g.chr10:31809579A>G	ENST00000446923.2	+	7	1659	c.1268A>G	c.(1267-1269)aAa>aGa	p.K423R	ZEB1_ENST00000559858.1_3'UTR|ZEB1_ENST00000560721.2_Missense_Mutation_p.K419R|ZEB1_ENST00000320985.10_Missense_Mutation_p.K439R|ZEB1_ENST00000361642.5_Missense_Mutation_p.K440R|ZEB1_ENST00000542815.3_Missense_Mutation_p.K372R	NM_001128128.2|NM_001174094.1	NP_001121600.1|NP_001167565.1	P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	439					cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				CTTGCATCCAAAGAACAAGAA	0.373													3	70					0	0	1	0	0	G	31809579	A	G	31809579	3	3	447	1	0	0	0	0	1	0	0	0	17681	14	1	3	1356	3	ZEB1	10	31809579	Missense_Mutation	SNP	A	TCGA-S9-A7QY-01A-11D-A34A-08		31809579	103725168	37	35581											
ILK	3611	broad.mit.edu	37	11	6630830	6630830	+	Missense_Mutation	SNP	G	G	T			TCGA-S9-A7QY-01A-11D-A34A-08	TCGA-S9-A7QY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b118d0f-04ee-4217-952b-9c720413fb1a	51e0f1be-6e26-4b2e-b79e-731ec9b5c4d8	g.chr11:6630830G>T	ENST00000396751.2	+	8	1272	c.816G>T	c.(814-816)atG>atT	p.M272I	ILK_ENST00000526711.1_3'UTR|ILK_ENST00000528995.1_Missense_Mutation_p.M211I|ILK_ENST00000420936.2_Missense_Mutation_p.M272I|ILK_ENST00000537806.1_Missense_Mutation_p.M138I|ILK_ENST00000299421.4_Missense_Mutation_p.M272I|RP11-732A19.2_ENST00000527398.1_RNA	NM_001014795.1	NP_001014795.1	Q13418	ILK_HUMAN	integrin-linked kinase	272	Protein kinase.				cell junction assembly|cell proliferation|cell-matrix adhesion|integrin-mediated signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of phosphorylation|positive regulation of transcription, DNA-dependent	cytosol|focal adhesion	ATP binding|protein serine/threonine kinase activity			central_nervous_system(1)	1		Breast(177;7.61e-05)|Medulloblastoma(188;0.00263)|all_neural(188;0.026)|all_lung(207;0.152)		Epithelial(150;5.49e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00012)|Lung(200;0.00942)|LUSC - Lung squamous cell carcinoma(625;0.0163)		CACACTGGATGCCGTATGGAT	0.517													4	110					0.150653	0.152469	1	1	0	T	6630830	G	T	6630830	3	4	447	1	0	0	0	0	1	0	0	0	7757	1319	46	5	846	5	ILK	11	6630830	Missense_Mutation	SNP	G	TCGA-S9-A7QY-01A-11D-A34A-08		6630830	128375686	38	35582											
OR4S1	256148	broad.mit.edu	37	11	48328584	48328584	+	Silent	SNP	C	C	T			TCGA-S9-A7QY-01A-11D-A34A-08	TCGA-S9-A7QY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b118d0f-04ee-4217-952b-9c720413fb1a	51e0f1be-6e26-4b2e-b79e-731ec9b5c4d8	g.chr11:48328584C>T	ENST00000319988.1	+	1	810	c.810C>T	c.(808-810)atC>atT	p.I270I		NM_001004725.1	NP_001004725.1	Q8NGB4	OR4S1_HUMAN	olfactory receptor, family 4, subfamily S, member 1	270					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|skin(3)	21						AACTTATCATCCTCTTTAACA	0.458													34	81					0	0	1	0	0	T	48328584	C	T	48328584	2	4	447	1	0	0	0	0	0	0	0	1	11130	845	30	2		2	OR4S1	11	48328584	Silent	SNP	C	TCGA-S9-A7QY-01A-11D-A34A-08	41697754	48328584	86677932	39	35583											
OR4D5	219875	broad.mit.edu	37	11	123811091	123811091	+	Silent	SNP	C	C	T			TCGA-S9-A7QY-01A-11D-A34A-08	TCGA-S9-A7QY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b118d0f-04ee-4217-952b-9c720413fb1a	51e0f1be-6e26-4b2e-b79e-731ec9b5c4d8	g.chr11:123811091C>T	ENST00000307033.2	+	1	842	c.768C>T	c.(766-768)taC>taT	p.Y256Y		NM_001001965.1	NP_001001965.1	Q8NGN0	OR4D5_HUMAN	olfactory receptor, family 4, subfamily D, member 5	256					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		CTTGCATCTACGTCTATACAA	0.532													10	151					0	0	1	0	0	T	123811091	C	T	123811091	2	4	447	1	0	0	0	0	0	0	0	1	11105	547	19	1		1	OR4D5	11	123811091	Silent	SNP	C	TCGA-S9-A7QY-01A-11D-A34A-08	75482507	123811091	11195425	40	35584											
SLC2A14	144195	broad.mit.edu	37	12	7984361	7984361	+	Splice_Site	SNP	C	C	T			TCGA-S9-A7QY-01A-11D-A34A-08	TCGA-S9-A7QY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b118d0f-04ee-4217-952b-9c720413fb1a	51e0f1be-6e26-4b2e-b79e-731ec9b5c4d8	g.chr12:7984361C>T	ENST00000543909.1	-	9	940		c.e9-1		SLC2A14_ENST00000542505.1_Intron|SLC2A14_ENST00000535295.1_Intron|SLC2A14_ENST00000340749.5_Splice_Site|SLC2A14_ENST00000431042.2_Splice_Site|SLC2A14_ENST00000539924.1_Splice_Site|SLC2A14_ENST00000396589.2_Splice_Site|SLC2A14_ENST00000542546.1_Intron			Q8TDB8	GTR14_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 14						cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane	glucose transmembrane transporter activity			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	38				Kidney(36;0.0883)		CCTTTATGATCTGCAAAATAA	0.448											OREG0021654	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	23	44					0	0	1	0	0	T	7984361	C	T	7984361	5	4	447	1	0	0	0	0	0	0	1	0	14598	927	32	2	1414	2	SLC2A14	12	7984361	Splice_Site	SNP	C	TCGA-S9-A7QY-01A-11D-A34A-08		7984361	125867534	41	35585											
DENND5B	160518	broad.mit.edu	37	12	31632836	31632836	+	Silent	SNP	C	C	T			TCGA-S9-A7QY-01A-11D-A34A-08	TCGA-S9-A7QY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b118d0f-04ee-4217-952b-9c720413fb1a	51e0f1be-6e26-4b2e-b79e-731ec9b5c4d8	g.chr12:31632836C>T	ENST00000389082.5	-	3	855	c.591G>A	c.(589-591)ccG>ccA	p.P197P	DENND5B_ENST00000536562.1_Silent_p.P232P|DENND5B_ENST00000354285.4_Silent_p.P219P|DENND5B_ENST00000306833.6_Silent_p.P232P|DENND5B_ENST00000545147.1_Intron	NM_144973.3	NP_659410.3	Q6ZUT9	DEN5B_HUMAN	DENN/MADD domain containing 5B	197	DENN.					integral to membrane				NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						TGAATGGTAACGGTGTGATCA	0.433													15	34					0	0	1	0	0	T	31632836	C	T	31632836	2	4	447	1	0	0	0	0	0	0	0	1	4465	523	19	1		1	DENND5B	12	31632836	Silent	SNP	C	TCGA-S9-A7QY-01A-11D-A34A-08	23648475	31632836	102219059	42	35586											
RFX4	5992	broad.mit.edu	37	12	107083127	107083127	+	Silent	SNP	A	A	G			TCGA-S9-A7QY-01A-11D-A34A-08	TCGA-S9-A7QY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b118d0f-04ee-4217-952b-9c720413fb1a	51e0f1be-6e26-4b2e-b79e-731ec9b5c4d8	g.chr12:107083127A>G	ENST00000392842.1	+	7	1068	c.654A>G	c.(652-654)agA>agG	p.R218R	RFX4_ENST00000229387.5_Silent_p.R124R|RFX4_ENST00000357881.4_Silent_p.R227R|RP11-144F15.1_ENST00000551505.1_Intron	NM_213594.2	NP_998759.1	Q33E94	RFX4_HUMAN	regulatory factor X, 4 (influences HLA class II expression)	218					transcription, DNA-dependent	nucleus	DNA binding			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(20)|pancreas(1)|upper_aerodigestive_tract(1)	35						CTGTAATAAGAGCCAACTTTG	0.413													36	70					0	0	1	0	0	G	107083127	A	G	107083127	2	3	447	1	0	0	0	0	0	0	0	1	13317	301	11	3		3	RFX4	12	107083127	Silent	SNP	A	TCGA-S9-A7QY-01A-11D-A34A-08	75450291	107083127	26768768	43	35587											
ZFYVE19	84936	broad.mit.edu	37	15	41100553	41100553	+	Missense_Mutation	SNP	C	C	A			TCGA-S9-A7QY-01A-11D-A34A-08	TCGA-S9-A7QY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b118d0f-04ee-4217-952b-9c720413fb1a	51e0f1be-6e26-4b2e-b79e-731ec9b5c4d8	g.chr15:41100553C>A	ENST00000336455.5	+	2	281	c.226C>A	c.(226-228)Cca>Aca	p.P76T	ZFYVE19_ENST00000563530.1_Intron|ZFYVE19_ENST00000564258.1_Intron|ZFYVE19_ENST00000355341.4_Intron|ZFYVE19_ENST00000570108.1_Intron|ZFYVE19_ENST00000299173.10_Intron	NM_032850.4	NP_116239.3	Q96K21	ZFY19_HUMAN	zinc finger, FYVE domain containing 19	244							zinc ion binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	9		all_cancers(109;3.31e-18)|all_epithelial(112;2.33e-15)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;2.76e-05)|COAD - Colon adenocarcinoma(120;0.151)|BRCA - Breast invasive adenocarcinoma(123;0.164)		CACAGACCTGCCAGATTCCTC	0.542													4	102					4.096e-09	4.41108e-09	1	1	0	A	41100553	C	A	41100553	3	1	447	1	0	0	0	0	1	0	0	0	17723	754	26	5		5	ZFYVE19	15	41100553	Missense_Mutation	SNP	C	TCGA-S9-A7QY-01A-11D-A34A-08		41100553	61430839	44	35588											
IDH2	3418	broad.mit.edu	37	15	90631838	90631838	+	Missense_Mutation	SNP	C	C	T	rs121913503		TCGA-S9-A7QY-01A-11D-A34A-08	TCGA-S9-A7QY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b118d0f-04ee-4217-952b-9c720413fb1a	51e0f1be-6e26-4b2e-b79e-731ec9b5c4d8	g.chr15:90631838C>T	ENST00000330062.3	-	4	628	c.515G>A	c.(514-516)aGg>aAg	p.R172K	IDH2_ENST00000540499.2_Missense_Mutation_p.R120K|IDH2_ENST00000539790.1_Missense_Mutation_p.R42K|IDH2_ENST00000559482.1_Intron	NM_002168.2	NP_002159.2	P48735	IDHP_HUMAN	isocitrate dehydrogenase 2 (NADP+), mitochondrial	172					2-oxoglutarate metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding	p.R172K(116)|p.R172M(21)|p.R172N(1)		biliary_tract(11)|bone(19)|central_nervous_system(107)|endometrium(1)|haematopoietic_and_lymphoid_tissue(953)|large_intestine(8)|lung(5)|skin(5)	1109	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.106)			ATGGGCGTGCCTGCCAATGGT	0.632			M		GBM								19	48					0	0	1	0	0	T	90631838	C	T	90631838	3	4	447	1	0	0	0	0	1	0	0	0	7539	681	24	2	875	2	IDH2	15	90631838	Missense_Mutation	SNP	C	TCGA-S9-A7QY-01A-11D-A34A-08	49531285	90631838	11899554	45	35589											
UQCRC2	7385	broad.mit.edu	37	16	21982886	21982886	+	Missense_Mutation	SNP	T	T	G			TCGA-S9-A7QY-01A-11D-A34A-08	TCGA-S9-A7QY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b118d0f-04ee-4217-952b-9c720413fb1a	51e0f1be-6e26-4b2e-b79e-731ec9b5c4d8	g.chr16:21982886T>G	ENST00000268379.4	+	9	1475	c.711T>G	c.(709-711)ttT>ttG	p.F237L	UQCRC2_ENST00000561553.1_Missense_Mutation_p.F237L	NM_003366.2	NP_003357.2	P22695	QCR2_HUMAN	ubiquinol-cytochrome c reductase core protein II	237					aerobic respiration|oxidative phosphorylation|proteolysis|respiratory electron transport chain|transport		metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(4)|prostate(1)|skin(1)	15				GBM - Glioblastoma multiforme(48;0.0264)		CTGAACAGTTTCTCAACATGA	0.403													35	48					0	0	1	0	0	G	21982886	T	G	21982886	3	3	447	1	0	0	0	0	1	0	0	0	17080	1780	62	5	745	5	UQCRC2	16	21982886	Missense_Mutation	SNP	T	TCGA-S9-A7QY-01A-11D-A34A-08		21982886	68371867	46	35590											
KIF1C	10749	broad.mit.edu	37	17	4905406	4905406	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A7QY-01A-11D-A34A-08	TCGA-S9-A7QY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b118d0f-04ee-4217-952b-9c720413fb1a	51e0f1be-6e26-4b2e-b79e-731ec9b5c4d8	g.chr17:4905406C>T	ENST00000320785.5	+	6	773	c.416C>T	c.(415-417)tCc>tTc	p.S139F		NM_006612.5	NP_006603.2	O43896	KIF1C_HUMAN	kinesin family member 1C	139	Kinesin-motor.				microtubule-based movement|retrograde vesicle-mediated transport, Golgi to ER	endoplasmic reticulum|Golgi apparatus|microtubule	ATP binding|microtubule motor activity			NS(2)|breast(4)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|skin(1)|urinary_tract(3)	30						GCTCAGCTATCCTACTCTGTG	0.572													6	106					0	0	1	0	0	T	4905406	C	T	4905406	3	4	447	1	0	0	0	0	1	0	0	0	8327	855	30	2	430	2	KIF1C	17	4905406	Missense_Mutation	SNP	C	TCGA-S9-A7QY-01A-11D-A34A-08		4905406	76289804	47	35591											
ACADVL	37	broad.mit.edu	37	17	7126528	7126528	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7QY-01A-11D-A34A-08	TCGA-S9-A7QY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b118d0f-04ee-4217-952b-9c720413fb1a	51e0f1be-6e26-4b2e-b79e-731ec9b5c4d8	g.chr17:7126528G>A	ENST00000356839.5	+	11	1333	c.1154G>A	c.(1153-1155)cGg>cAg	p.R385Q	ACADVL_ENST00000350303.5_Missense_Mutation_p.R363Q|ACADVL_ENST00000543245.2_Missense_Mutation_p.R408Q	NM_000018.3|NM_001270448.1	NP_000009.1|NP_001257377.1	P49748	ACADV_HUMAN	acyl-CoA dehydrogenase, very long chain	385	Catalytic.				energy derivation by oxidation of organic compounds|fatty acid beta-oxidation using acyl-CoA dehydrogenase|negative regulation of fatty acid biosynthetic process|negative regulation of fatty acid oxidation|regulation of cholesterol metabolic process|temperature homeostasis	mitochondrial inner membrane|mitochondrial nucleoid	long-chain-acyl-CoA dehydrogenase activity			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(2)|liver(2)|lung(1)|ovary(4)|skin(1)	21						AAGCTGGCACGGATGGTTATG	0.562													5	132					0	0	1	0	0	A	7126528	G	A	7126528	3	1	447	1	0	0	0	0	1	0	0	0	116	1116	39	1	1196	1	ACADVL	17	7126528	Missense_Mutation	SNP	G	TCGA-S9-A7QY-01A-11D-A34A-08	2221122	7126528	74068682	48	35592											
TEX2	55852	broad.mit.edu	37	17	62291171	62291171	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7QY-01A-11D-A34A-08	TCGA-S9-A7QY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b118d0f-04ee-4217-952b-9c720413fb1a	51e0f1be-6e26-4b2e-b79e-731ec9b5c4d8	g.chr17:62291171G>A	ENST00000258991.3	-	2	491	c.407C>T	c.(406-408)cCa>cTa	p.P136L	TEX2_ENST00000584379.1_Missense_Mutation_p.P136L|TEX2_ENST00000583097.1_Missense_Mutation_p.P136L			Q8IWB9	TEX2_HUMAN	testis expressed 2	136					signal transduction|sphingolipid metabolic process	integral to membrane				breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)		AGACGACCCTGGGGACACAGC	0.537													39	85					0	0	1	0	0	A	62291171	G	A	62291171	3	1	447	1	0	0	0	0	1	0	0	0	15840	1348	47	2	3041	2	TEX2	17	62291171	Missense_Mutation	SNP	G	TCGA-S9-A7QY-01A-11D-A34A-08	55164643	62291171	18904039	49	35593											
DSC2	1824	broad.mit.edu	37	18	28651576	28651576	+	Missense_Mutation	SNP	A	A	C			TCGA-S9-A7QY-01A-11D-A34A-08	TCGA-S9-A7QY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b118d0f-04ee-4217-952b-9c720413fb1a	51e0f1be-6e26-4b2e-b79e-731ec9b5c4d8	g.chr18:28651576A>C	ENST00000280904.6	-	13	2563	c.2120T>G	c.(2119-2121)cTc>cGc	p.L707R	DSC2_ENST00000251081.6_Missense_Mutation_p.L707R	NM_024422.3	NP_077740.1	Q02487	DSC2_HUMAN	desmocollin 2	707					homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			CTTACAAAAGAGCAATGCTAT	0.413													3	49					0	0	1	0	0	C	28651576	A	C	28651576	3	2	447	1	0	0	0	0	1	0	0	0	4792	304	11	5	641	5	DSC2	18	28651576	Missense_Mutation	SNP	A	TCGA-S9-A7QY-01A-11D-A34A-08		28651576	49425672	50	35594											
DOK6	220164	broad.mit.edu	37	18	67406223	67406223	+	Silent	SNP	C	C	T			TCGA-S9-A7QY-01A-11D-A34A-08	TCGA-S9-A7QY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b118d0f-04ee-4217-952b-9c720413fb1a	51e0f1be-6e26-4b2e-b79e-731ec9b5c4d8	g.chr18:67406223C>T	ENST00000382713.5	+	6	812	c.622C>T	c.(622-624)Cta>Tta	p.L208L	DOK6_ENST00000584435.1_3'UTR	NM_152721.5	NP_689934.2	Q6PKX4	DOK6_HUMAN	docking protein 6	208	IRS-type PTB.						insulin receptor binding			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	20		Colorectal(73;0.083)|Esophageal squamous(42;0.131)				AGGAGAAGGACTATTCACTTT	0.418													5	114					0	0	1	0	0	T	67406223	C	T	67406223	2	4	447	1	0	0	0	0	0	0	0	1	4728	564	20	2		2	DOK6	18	67406223	Silent	SNP	C	TCGA-S9-A7QY-01A-11D-A34A-08	38754647	67406223	10671025	51	35595											
UBXN6	80700	broad.mit.edu	37	19	4446151	4446151	+	Silent	SNP	G	G	A			TCGA-S9-A7QY-01A-11D-A34A-08	TCGA-S9-A7QY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b118d0f-04ee-4217-952b-9c720413fb1a	51e0f1be-6e26-4b2e-b79e-731ec9b5c4d8	g.chr19:4446151G>A	ENST00000301281.6	-	10	1219	c.1095C>T	c.(1093-1095)ttC>ttT	p.F365F	UBXN6_ENST00000394765.3_Silent_p.F312F	NM_025241.2	NP_079517.1	Q9BZV1	UBXN6_HUMAN	UBX domain protein 6	365	UBX.					microtubule organizing center|nucleus	protein binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	12						CCTCCCGGACGAACCCGTACA	0.692													8	15					0	0	1	0	0	A	4446151	G	A	4446151	2	1	447	1	0	0	0	0	0	0	0	1	16977	1049	37	1		1	UBXN6	19	4446151	Silent	SNP	G	TCGA-S9-A7QY-01A-11D-A34A-08		4446151	54682832	52	35596											
ILVBL	10994	broad.mit.edu	37	19	15227282	15227282	+	Missense_Mutation	SNP	G	G	T			TCGA-S9-A7QY-01A-11D-A34A-08	TCGA-S9-A7QY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b118d0f-04ee-4217-952b-9c720413fb1a	51e0f1be-6e26-4b2e-b79e-731ec9b5c4d8	g.chr19:15227282G>T	ENST00000263383.3	-	11	1377	c.1238C>A	c.(1237-1239)aCc>aAc	p.T413N	ILVBL_ENST00000534378.1_Missense_Mutation_p.T306N	NM_006844.3	NP_006835.2	A1L0T0	ILVBL_HUMAN	ilvB (bacterial acetolactate synthase)-like	413						integral to membrane	magnesium ion binding|thiamine pyrophosphate binding|transferase activity			NS(3)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)	26						TGGGGCCCAGGTCTGGCCCTG	0.637													3	61					0.0215528	0.0220784	1	1	0	T	15227282	G	T	15227282	3	4	447	1	0	0	0	0	1	0	0	0	7759	1261	44	5	684	5	ILVBL	19	15227282	Missense_Mutation	SNP	G	TCGA-S9-A7QY-01A-11D-A34A-08	10781131	15227282	43901701	53	35597											
ZNF460	10794	broad.mit.edu	37	19	57803125	57803125	+	Missense_Mutation	SNP	G	G	T			TCGA-S9-A7QY-01A-11D-A34A-08	TCGA-S9-A7QY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b118d0f-04ee-4217-952b-9c720413fb1a	51e0f1be-6e26-4b2e-b79e-731ec9b5c4d8	g.chr19:57803125G>T	ENST00000360338.3	+	3	1538	c.1216G>T	c.(1216-1218)Gac>Tac	p.D406Y	ZNF460_ENST00000537645.1_Missense_Mutation_p.D365Y	NM_006635.3	NP_006626.3	Q14592	ZN460_HUMAN	zinc finger protein 460	406					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CATTCGAAAAGACCTCATTCG	0.473													18	32					7.41877e-09	7.88832e-09	1	1	0	T	57803125	G	T	57803125	3	4	447	1	0	0	0	0	1	0	0	0	17981	942	33	4	1226	4	ZNF460	19	57803125	Missense_Mutation	SNP	G	TCGA-S9-A7QY-01A-11D-A34A-08	42575843	57803125	1325858	54	35598											
ENTPD6	955	broad.mit.edu	37	20	25187970	25187970	+	Missense_Mutation	SNP	A	A	T			TCGA-S9-A7QY-01A-11D-A34A-08	TCGA-S9-A7QY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b118d0f-04ee-4217-952b-9c720413fb1a	51e0f1be-6e26-4b2e-b79e-731ec9b5c4d8	g.chr20:25187970A>T	ENST00000360031.2	+	3	492	c.310A>T	c.(310-312)Atg>Ttg	p.M104L	ENTPD6_ENST00000433259.2_Missense_Mutation_p.M105L|ENTPD6_ENST00000376652.4_Missense_Mutation_p.M105L|ENTPD6_ENST00000354989.5_Missense_Mutation_p.M88L	NM_001247.2	NP_001238.2	O75354	ENTP6_HUMAN	ectonucleoside triphosphate diphosphohydrolase 6 (putative)	105						Golgi membrane|integral to membrane	nucleoside-diphosphatase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|prostate(1)|skin(1)	27						CTACGGGATCATGTTTGATGC	0.662													6	60					0	0	1	0	0	T	25187970	A	T	25187970	3	4	447	1	0	0	0	0	1	0	0	0	5171	217	8	4	326	4	ENTPD6	20	25187970	Missense_Mutation	SNP	A	TCGA-S9-A7QY-01A-11D-A34A-08		25187970	37837550	55	35599											
PCIF1	63935	broad.mit.edu	37	20	44569128	44569128	+	Silent	SNP	G	G	T			TCGA-S9-A7QY-01A-11D-A34A-08	TCGA-S9-A7QY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b118d0f-04ee-4217-952b-9c720413fb1a	51e0f1be-6e26-4b2e-b79e-731ec9b5c4d8	g.chr20:44569128G>T	ENST00000372409.3	+	5	628	c.264G>T	c.(262-264)ggG>ggT	p.G88G		NM_022104.3	NP_071387.1	Q9H4Z3	PCIF1_HUMAN	PDX1 C-terminal inhibiting factor 1	88						nucleus				central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	20						ACCCTTTGGGGCTGAATGCGA	0.622													3	11					1	1	1	1	0	T	44569128	G	T	44569128	2	4	447	1	0	0	0	0	0	0	0	1	11627	1190	42	5		5	PCIF1	20	44569128	Silent	SNP	G	TCGA-S9-A7QY-01A-11D-A34A-08	19381158	44569128	18456392	56	35600											
PCNT	5116	broad.mit.edu	37	21	47809221	47809221	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A7QY-01A-11D-A34A-08	TCGA-S9-A7QY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b118d0f-04ee-4217-952b-9c720413fb1a	51e0f1be-6e26-4b2e-b79e-731ec9b5c4d8	g.chr21:47809221C>T	ENST00000359568.5	+	19	3822	c.3715C>T	c.(3715-3717)Cgt>Tgt	p.R1239C	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	1239					cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					CAGCCACATGCGTGAAAGCTT	0.572													5	96					0	0	1	0	0	T	47809221	C	T	47809221	3	4	447	1	0	0	0	0	1	0	0	0	11637	768	27	1	3789	1	PCNT	21	47809221	Missense_Mutation	SNP	C	TCGA-S9-A7QY-01A-11D-A34A-08		47809221	320674	57	35601											
TLR7	51284	broad.mit.edu	37	X	12905355	12905355	+	Silent	SNP	T	T	C			TCGA-S9-A7QY-01A-11D-A34A-08	TCGA-S9-A7QY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b118d0f-04ee-4217-952b-9c720413fb1a	51e0f1be-6e26-4b2e-b79e-731ec9b5c4d8	g.chrX:12905355T>C	ENST00000380659.3	+	3	1867	c.1728T>C	c.(1726-1728)aaT>aaC	p.N576N		NM_016562.3	NP_057646.1	Q9NYK1	TLR7_HUMAN	toll-like receptor 7	576					cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus	early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane	double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity			NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44					Imiquimod(DB00724)	TAAGCAGTAATAGCCATTATT	0.373													4	275					0	0	1	0	0	C	12905355	T	C	12905355	2	2	447	1	0	0	0	0	0	0	0	1	16016	1403	49	3		3	TLR7	23	12905355	Silent	SNP	T	TCGA-S9-A7QY-01A-11D-A34A-08		12905355	142365205	58	35602											
PHEX	5251	broad.mit.edu	37	X	22094543	22094543	+	Silent	SNP	C	C	T			TCGA-S9-A7QY-01A-11D-A34A-08	TCGA-S9-A7QY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b118d0f-04ee-4217-952b-9c720413fb1a	51e0f1be-6e26-4b2e-b79e-731ec9b5c4d8	g.chrX:22094543C>T	ENST00000379374.4	+	4	952	c.387C>T	c.(385-387)acC>acT	p.T129T	PHEX_ENST00000535894.1_Silent_p.T32T|PHEX_ENST00000537599.1_Silent_p.T129T	NM_000444.4	NP_000435.3	P78562	PHEX_HUMAN	phosphate regulating endopeptidase homolog, X-linked	129					biomineral tissue development|cell-cell signaling|protein modification process|proteolysis|skeletal system development	integral to plasma membrane	aminopeptidase activity|metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(2)|endometrium(2)|large_intestine(12)|liver(1)|lung(19)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	42						GGCGGGACACCGAAGCCATAC	0.388													17	30					0	0	1	0	0	T	22094543	C	T	22094543	2	4	447	1	0	0	0	0	0	0	0	1	11867	639	23	1		1	PHEX	23	22094543	Silent	SNP	C	TCGA-S9-A7QY-01A-11D-A34A-08	9189188	22094543	133176017	59	35603											
DCAF8L1	139425	broad.mit.edu	37	X	27998610	27998610	+	Missense_Mutation	SNP	C	C	T	rs146103278		TCGA-S9-A7QY-01A-11D-A34A-08	TCGA-S9-A7QY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b118d0f-04ee-4217-952b-9c720413fb1a	51e0f1be-6e26-4b2e-b79e-731ec9b5c4d8	g.chrX:27998610C>T	ENST00000441525.1	-	1	956	c.842G>A	c.(841-843)cGt>cAt	p.R281H		NM_001017930.1	NP_001017930.1	A6NGE4	DC8L1_HUMAN	DDB1 and CUL4 associated factor 8-like 1	281										NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						CTTGGCCACACGCTTAGTATT	0.498													9	86					0	0	1	0	0	T	27998610	C	T	27998610	3	4	447	1	0	0	0	0	1	0	0	0	4301	536	19	1	964	1	DCAF8L1	23	27998610	Missense_Mutation	SNP	C	TCGA-S9-A7QY-01A-11D-A34A-08	5904067	27998610	127271950	60	35604											
NYX	60506	broad.mit.edu	37	X	41333636	41333636	+	Silent	SNP	C	C	T			TCGA-S9-A7QY-01A-11D-A34A-08	TCGA-S9-A7QY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b118d0f-04ee-4217-952b-9c720413fb1a	51e0f1be-6e26-4b2e-b79e-731ec9b5c4d8	g.chrX:41333636C>T	ENST00000342595.2	+	2	1386	c.930C>T	c.(928-930)aaC>aaT	p.N310N	NYX_ENST00000378220.1_Silent_p.N310N	NM_022567.2	NP_072089.1	Q9GZU5	NYX_HUMAN	nyctalopin	310					response to stimulus|visual perception	intracellular|proteinaceous extracellular matrix				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(11)|upper_aerodigestive_tract(1)	17						TGCACCTCAACGGCAACCGCC	0.677													22	60					0	0	1	0	0	T	41333636	C	T	41333636	2	4	447	1	0	0	0	0	0	0	0	1	10845	535	19	1		1	NYX	23	41333636	Silent	SNP	C	TCGA-S9-A7QY-01A-11D-A34A-08	13335026	41333636	113936924	61	35605											
TAF1	6872	broad.mit.edu	37	X	70612782	70612782	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A7QY-01A-11D-A34A-08	TCGA-S9-A7QY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b118d0f-04ee-4217-952b-9c720413fb1a	51e0f1be-6e26-4b2e-b79e-731ec9b5c4d8	g.chrX:70612782C>T	ENST00000449580.1	+	20	3037	c.2986C>T	c.(2986-2988)Cgt>Tgt	p.R996C	TAF1_ENST00000423759.1_Missense_Mutation_p.R1017C|TAF1_ENST00000276072.3_Missense_Mutation_p.R1017C|TAF1_ENST00000373790.4_Missense_Mutation_p.R996C			P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	996					G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity	p.R996C(1)|p.R1017C(1)		breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				TGCAGACCTTCGTCGCCTTTC	0.433													4	177					0	0	1	0	0	T	70612782	C	T	70612782	3	4	447	1	0	0	0	0	1	0	0	0	15570	884	31	1	3127	1	TAF1	23	70612782	Missense_Mutation	SNP	C	TCGA-S9-A7QY-01A-11D-A34A-08	29279146	70612782	84657778	62	35606											
RAP2C	57826	broad.mit.edu	37	X	131348282	131348282	+	Missense_Mutation	SNP	G	G	T			TCGA-S9-A7QY-01A-11D-A34A-08	TCGA-S9-A7QY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b118d0f-04ee-4217-952b-9c720413fb1a	51e0f1be-6e26-4b2e-b79e-731ec9b5c4d8	g.chrX:131348282G>T	ENST00000342983.2	-	3	1212	c.466C>A	c.(466-468)Ctt>Att	p.L156I	RAP2C_ENST00000370874.1_Missense_Mutation_p.L156I|RAP2C_ENST00000460462.1_5'UTR	NM_001271187.1|NM_021183.4	NP_001258116.1|NP_067006.3	Q9Y3L5	RAP2C_HUMAN	RAP2C, member of RAS oncogene family	156					negative regulation of cell migration|positive regulation of protein autophosphorylation|Rap protein signal transduction|regulation of protein tyrosine kinase activity	recycling endosome membrane	GTP binding|GTPase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|ovary(1)|upper_aerodigestive_tract(2)	8	Acute lymphoblastic leukemia(192;0.000127)					TCAGCAAAAAGTTCATCCACC	0.443													9	133					0.00621372	0.00644385	1	1	0	T	131348282	G	T	131348282	3	4	447	1	0	0	0	0	1	0	0	0	13094	1029	36	4	89	4	RAP2C	23	131348282	Missense_Mutation	SNP	G	TCGA-S9-A7QY-01A-11D-A34A-08	60735500	131348282	23922278	63	35607											
DDX26B	203522	broad.mit.edu	37	X	134707958	134707958	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A7QY-01A-11D-A34A-08	TCGA-S9-A7QY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b118d0f-04ee-4217-952b-9c720413fb1a	51e0f1be-6e26-4b2e-b79e-731ec9b5c4d8	g.chrX:134707958C>T	ENST00000370752.4	+	12	1935	c.1601C>T	c.(1600-1602)aCg>aTg	p.T534M	DDX26B_ENST00000481908.1_3'UTR	NM_182540.4	NP_872346.3	Q5JSJ4	DX26B_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26B	534										large_intestine(1)|lung(8)	9	Acute lymphoblastic leukemia(192;6.56e-05)					CTGCTGAAAACGCACAAGTTT	0.358													5	60					0	0	1	0	0	T	134707958	C	T	134707958	3	4	447	1	0	0	0	0	1	0	0	0	4376	536	19	1	1647	1	DDX26B	23	134707958	Missense_Mutation	SNP	C	TCGA-S9-A7QY-01A-11D-A34A-08	3359676	134707958	20562602	64	35608											
OPN1MW	2652	broad.mit.edu	37	X	153459015	153459015	+	Silent	SNP	C	C	T			TCGA-S9-A7QY-01A-11D-A34A-08	TCGA-S9-A7QY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b118d0f-04ee-4217-952b-9c720413fb1a	51e0f1be-6e26-4b2e-b79e-731ec9b5c4d8	g.chrX:153459015C>T	ENST00000369935.5	+	5	921	c.861C>T	c.(859-861)ttC>ttT	p.F287F		NM_000513.2	NP_000504.1	P04001	OPSG_HUMAN	opsin 1 (cone pigments), medium-wave-sensitive	287					phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity			endometrium(1)|lung(1)	2	all_cancers(53;1.83e-16)|all_epithelial(53;2.73e-10)|all_lung(58;6.39e-07)|Lung NSC(58;8.37e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					ACGCCTTCTTCGCATGCTTTG	0.562													18	153					0	0	1	0	0	T	153459015	C	T	153459015	2	4	447	1	0	0	0	0	0	0	0	1	10926	883	31	1		1	OPN1MW	23	153459015	Silent	SNP	C	TCGA-S9-A7QY-01A-11D-A34A-08	18751057	153459015	1811545	65	35609											
TAZ	6901	broad.mit.edu	37	X	153641818	153641818	+	Splice_Site	SNP	G	G	T			TCGA-S9-A7QY-01A-11D-A34A-08	TCGA-S9-A7QY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b118d0f-04ee-4217-952b-9c720413fb1a	51e0f1be-6e26-4b2e-b79e-731ec9b5c4d8	g.chrX:153641818G>T	ENST00000299328.5	+	4	573		c.e4-1		TAZ_ENST00000475699.1_Splice_Site|TAZ_ENST00000350743.4_Splice_Site|TAZ_ENST00000369776.4_Splice_Site|TAZ_ENST00000351413.4_Splice_Site|TAZ_ENST00000369790.4_Splice_Site	NM_000116.3	NP_000107.1	Q16635	TAZ_HUMAN	tafazzin						cardiac muscle contraction|cardiac muscle tissue development|cardiolipin biosynthetic process|cristae formation|hemopoiesis|mitochondrial ATP synthesis coupled electron transport|mitochondrial respiratory chain complex I assembly|skeletal muscle tissue development	integral to membrane|mitochondrion	1-acylglycerophosphocholine O-acyltransferase activity			lung(1)	1	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TCCCTGCTTAGGACCCCTGCA	0.622													31	68					3.03874e-20	3.40339e-20	1	1	0	T	153641818	G	T	153641818	5	4	447	1	0	0	0	0	0	0	1	0	15653	1014	35	4	298	4	TAZ	23	153641818	Splice_Site	SNP	G	TCGA-S9-A7QY-01A-11D-A34A-08	182803	153641818	1628742	66	35610											
NECAP2	55707	broad.mit.edu	37	1	16767279	16767279	+	Missense_Mutation	SNP	C	C	G			TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr1:16767279C>G	ENST00000337132.5	+	1	113	c.23C>G	c.(22-24)tCg>tGg	p.S8W	NECAP2_ENST00000457722.2_Intron|NECAP2_ENST00000443980.2_Missense_Mutation_p.S8W|NECAP2_ENST00000504551.2_Missense_Mutation_p.S8W|NECAP2_ENST00000486390.1_3'UTR|NECAP2_ENST00000406746.1_Missense_Mutation_p.S8W	NM_001145278.1|NM_018090.4	NP_001138750.1|NP_060560.1	Q9NVZ3	NECP2_HUMAN	NECAP endocytosis associated 2	8					endocytosis|protein transport	clathrin vesicle coat|coated pit|plasma membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9		Colorectal(325;0.000147)|Renal(390;0.00145)|Lung NSC(340;0.00215)|Breast(348;0.00224)|all_lung(284;0.00351)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(227;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|Kidney(64;0.000181)|KIRC - Kidney renal clear cell carcinoma(64;0.00268)|STAD - Stomach adenocarcinoma(196;0.012)|READ - Rectum adenocarcinoma(331;0.0649)		GGGTACGAGTCGGTGCTCTGT	0.652											OREG0013136	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	33					0	0	1	0	0	G	16767279	C	G	16767279	3	3	448	1	0	0	0	0	1	0	0	0	10355	893	31	5	25	5	NECAP2	1	16767279	Missense_Mutation	SNP	C	TCGA-S9-A7QZ-01A-12D-A34J-08		16767279	232483342	1	35611											
FCN3	8547	broad.mit.edu	37	1	27697141	27697141	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr1:27697141C>T	ENST00000270879.4	-	7	609	c.604G>A	c.(604-606)Ggt>Agt	p.G202S	FCN3_ENST00000354982.2_Missense_Mutation_p.G191S	NM_003665.2	NP_003656.2	O75636	FCN3_HUMAN	ficolin (collagen/fibrinogen domain containing) 3	202	Fibrinogen C-terminal.				complement activation, lectin pathway|signal transduction	collagen|extracellular space	receptor binding|sugar binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(1)|urinary_tract(1)	7		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;1.42e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00128)|KIRC - Kidney renal clear cell carcinoma(1967;0.00155)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		TCTACCTCACCGAGGAGGCGG	0.577													5	100					0	0	1	0	0	T	27697141	C	T	27697141	3	4	448	1	0	0	0	0	1	0	0	0	5826	652	23	1	303	1	FCN3	1	27697141	Missense_Mutation	SNP	C	TCGA-S9-A7QZ-01A-12D-A34J-08	10929862	27697141	221553480	2	35612											
FUBP1	8880	broad.mit.edu	37	1	78426109	78426111	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr1:78426109_78426111delAGG	ENST00000370767.1	-	15	1501_1503	c.1414_1416delCCT	c.(1414-1416)cctdel	p.P472del	FUBP1_ENST00000436586.2_In_Frame_Del_p.P493del|FUBP1_ENST00000370768.2_In_Frame_Del_p.P472del			Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1	472	Pro-rich.				transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						CTGGAGGCCCAGGAGGTCCATGG	0.542			"F, N"		oligodendroglioma								12	9	---	---	---	---						-	78426111	AGG	-	78426109	7	5	448	1	0	1	0	1	0	0	0	0	6127	175	7	0	542	0	FUBP1	1	78426109	In_Frame_Del	DEL	AGG	TCGA-S9-A7QZ-01A-12D-A34J-08	50728968	78426109	170824512	3	35613											
FUBP1	8880	broad.mit.edu	37	1	78430386	78430386	+	Frame_Shift_Del	DEL	A	A	-			TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr1:78430386delA	ENST00000370767.1	-	10	869	c.782delT	c.(781-783)ttcfs	p.F261fs	FUBP1_ENST00000436586.2_Frame_Shift_Del_p.F282fs|FUBP1_ENST00000370768.2_Frame_Shift_Del_p.F261fs			Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1	261					transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						AACTTCTCTGAAACCGCCTTG	0.348			"F, N"		oligodendroglioma								17	108	---	---	---	---						-	78430386	A	-	78430386	7	5	448	1	0	1	0	1	0	0	0	0	6127	246	9	0	1196	0	FUBP1	1	78430386	Frame_Shift_Del	DEL	A	TCGA-S9-A7QZ-01A-12D-A34J-08	4277	78430386	170820235	4	35614											
CLCA1	1179	broad.mit.edu	37	1	86959231	86959231	+	Silent	SNP	A	A	T			TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr1:86959231A>T	ENST00000234701.3	+	11	1980	c.1629A>T	c.(1627-1629)gtA>gtT	p.V543V	CLCA1_ENST00000394711.1_Silent_p.V543V			A8K7I4	CLCA1_HUMAN	chloride channel accessory 1	543					calcium ion transport	extracellular space|integral to plasma membrane	chloride channel activity			NS(1)|breast(3)|endometrium(1)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Lung NSC(277;0.239)		all cancers(265;0.0249)|Epithelial(280;0.0476)		GTGGCTTTGTAGTGGACAAAA	0.443													16	23					0	0	1	0	0	T	86959231	A	T	86959231	2	4	448	1	0	0	0	0	0	0	0	1	3480	407	15	5		5	CLCA1	1	86959231	Silent	SNP	A	TCGA-S9-A7QZ-01A-12D-A34J-08	8528845	86959231	162291390	5	35615											
SLC35A3	23443	broad.mit.edu	37	1	100480866	100480866	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr1:100480866G>A	ENST00000370155.3	+	6	1035	c.643G>A	c.(643-645)Gga>Aga	p.G215R	SLC35A3_ENST00000427993.2_Missense_Mutation_p.G215R|SLC35A3_ENST00000370156.3_3'UTR|SLC35A3_ENST00000370153.1_Missense_Mutation_p.G257R|SLC35A3_ENST00000465289.1_Intron	NM_012243.1	NP_036375.1	Q9Y2D2	S35A3_HUMAN	solute carrier family 35 (UDP-N-acetylglucosamine (UDP-GlcNAc) transporter), member A3	215					UDP-N-acetylglucosamine metabolic process	Golgi membrane|integral to membrane	sugar:hydrogen symporter activity|UDP-N-acetylglucosamine transmembrane transporter activity			biliary_tract(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	11		all_epithelial(167;0.000686)|all_lung(203;0.0154)|Lung NSC(277;0.0155)		Epithelial(280;0.124)|all cancers(265;0.198)|Lung(183;0.199)		AGGTTTCTTTGGAAGTATATT	0.303													25	22					0	0	1	0	0	A	100480866	G	A	100480866	3	1	448	1	0	0	0	0	1	0	0	0	14627	1349	47	2	661	2	SLC35A3	1	100480866	Missense_Mutation	SNP	G	TCGA-S9-A7QZ-01A-12D-A34J-08	13521635	100480866	148769755	6	35616											
NOTCH2NL	388677	broad.mit.edu	37	1	145273385	145273385	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr1:145273385G>A	ENST00000369340.3	+	4	683	c.239G>A	c.(238-240)gGc>gAc	p.G80D	RP11-458D21.5_ENST00000468030.1_Missense_Mutation_p.G80D|NOTCH2NL_ENST00000344859.3_Missense_Mutation_p.G80D|NOTCH2NL_ENST00000362074.6_Missense_Mutation_p.G80D			Q7Z3S9	NT2NL_HUMAN	notch 2 N-terminal like	80	EGF-like 3.				cell differentiation|multicellular organismal development|Notch signaling pathway	cytoplasm|extracellular region	calcium ion binding	p.G80D(2)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	27						CTGAATGGCGGCACATGCCAT	0.532													6	386					0	0	1	0	0	A	145273385	G	A	145273385	3	1	448	1	0	0	0	0	1	0	0	0	10596	1203	42	2	245	2	NOTCH2NL	1	145273385	Missense_Mutation	SNP	G	TCGA-S9-A7QZ-01A-12D-A34J-08	44792519	145273385	103977236	7	35617											
NTRK1	4914	broad.mit.edu	37	1	156844179	156844181	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr1:156844179_156844181delCTT	ENST00000524377.1	+	9	1223_1225	c.1182_1184delCTT	c.(1180-1185)tccttc>tcc	p.F395del	NTRK1_ENST00000368196.3_Intron|NTRK1_ENST00000358660.3_Intron|NTRK1_ENST00000392302.2_Intron	NM_002529.3	NP_002520.2	P04629	NTRK1_HUMAN	neurotrophic tyrosine kinase, receptor, type 1	395					activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Imatinib(DB00619)	CTGCAGTCTCCTTCTCGCCGGTG	0.601			T	"TPM3, TPR, TFG"	papillary thyroid					TSP Lung(10;0.080)			12	195	---	---	---	---						-	156844181	CTT	-	156844179	7	5	448	1	0	1	0	1	0	0	0	0	10754	668	24	0	1346	0	NTRK1	1	156844179	In_Frame_Del	DEL	CTT	TCGA-S9-A7QZ-01A-12D-A34J-08	11570794	156844179	92406442	8	35618											
ATP1B1	481	broad.mit.edu	37	1	169100780	169100784	+	Frame_Shift_Del	DEL	AAGTT	AAGTT	-			TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr1:169100780_169100784delAAGTT	ENST00000367816.1	+	7	1428_1432	c.899_903delAAGTT	c.(898-903)gaagttfs	p.EV300fs	ATP1B1_ENST00000499679.3_Frame_Shift_Del_p.EV244fs|ATP1B1_ENST00000367813.3_Frame_Shift_Del_p.EV292fs|ATP1B1_ENST00000367815.4_Frame_Shift_Del_p.EV300fs			P05026	AT1B1_HUMAN	ATPase, Na+/K+ transporting, beta 1 polypeptide	300					ATP biosynthetic process|blood coagulation|leukocyte migration	sodium:potassium-exchanging ATPase complex	protein binding|sodium:potassium-exchanging ATPase activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	14	all_hematologic(923;0.208)					GTAAAAATTGAAGTTAAGAGCTGAT	0.371													11	97	---	---	---	---						-	169100784	AAGTT	-	169100780	7	5	448	1	0	1	0	1	0	0	0	0	1131	246	9	0	921	0	ATP1B1	1	169100780	Frame_Shift_Del	DEL	AAGTT	TCGA-S9-A7QZ-01A-12D-A34J-08	12256601	169100780	80149841	9	35619											
CACNA1S	779	broad.mit.edu	37	1	201010635	201010635	+	Silent	SNP	G	G	A			TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr1:201010635G>A	ENST00000362061.3	-	41	5357	c.5131C>T	c.(5131-5133)Ctg>Ttg	p.L1711L	CACNA1S_ENST00000367338.3_Silent_p.L1692L|RP11-168O16.2_ENST00000415359.1_RNA	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	1711					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	GACTGACCCAGGACCCTGCAG	0.557													9	31					0	0	1	0	0	A	201010635	G	A	201010635	2	1	448	1	0	0	0	0	0	0	0	1	2565	991	35	2		2	CACNA1S	1	201010635	Silent	SNP	G	TCGA-S9-A7QZ-01A-12D-A34J-08	31909855	201010635	48239986	10	35620											
SYT2	127833	broad.mit.edu	37	1	202568405	202568407	+	In_Frame_Del	DEL	TCT	TCT	-			TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr1:202568405_202568407delTCT	ENST00000367267.1	-	8	1184_1186	c.992_994delAGA	c.(991-996)aagacc>acc	p.K331del	SYT2_ENST00000367268.4_In_Frame_Del_p.K331del	NM_001136504.1	NP_001129976.1	Q8N9I0	SYT2_HUMAN	synaptotagmin II	331	C2 2.|Phospholipid binding (By similarity).				neurotransmitter secretion	cell junction|chromaffin granule membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	protein binding|transporter activity			NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|ovary(2)|skin(2)|urinary_tract(1)	29			BRCA - Breast invasive adenocarcinoma(75;0.169)		Botulinum Toxin Type B(DB00042)	GGGTTCAGGGTCTTCTTCTTCAC	0.542													10	133	---	---	---	---						-	202568407	TCT	-	202568405	7	5	448	1	0	1	0	1	0	0	0	0	15531	1667	58	0	273	0	SYT2	1	202568405	In_Frame_Del	DEL	TCT	TCGA-S9-A7QZ-01A-12D-A34J-08	1557770	202568405	46682216	11	35621											
INTS7	25896	broad.mit.edu	37	1	212118272	212118272	+	Missense_Mutation	SNP	T	T	A			TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr1:212118272T>A	ENST00000366994.3	-	19	2559	c.2455A>T	c.(2455-2457)Att>Ttt	p.I819F	INTS7_ENST00000366993.3_Missense_Mutation_p.I805F|INTS7_ENST00000440600.2_Missense_Mutation_p.I770F|INTS7_ENST00000366992.3_Missense_Mutation_p.I799F|INTS7_ENST00000469606.1_5'UTR	NM_001199811.1|NM_001199812.1|NM_015434.3	NP_001186740.1|NP_001186741.1|NP_056249.1	Q9NVH2	INT7_HUMAN	integrator complex subunit 7	819					snRNA processing	integrator complex	protein binding			NS(1)|breast(1)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852)		TGGACAGCAATGGGCTCTGCA	0.507													10	96					0	0	1	0	0	A	212118272	T	A	212118272	3	1	448	1	0	0	0	0	1	0	0	0	7827	1464	51	4	441	4	INTS7	1	212118272	Missense_Mutation	SNP	T	TCGA-S9-A7QZ-01A-12D-A34J-08	9549867	212118272	37132349	12	35622											
ZP4	57829	broad.mit.edu	37	1	238050813	238050813	+	Missense_Mutation	SNP	C	C	T	rs141095443	byFrequency	TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr1:238050813C>T	ENST00000366570.4	-	5	760	c.602G>A	c.(601-603)cGg>cAg	p.R201Q	RP11-193H5.1_ENST00000450451.1_RNA	NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4	201	ZP.				acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity			breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			GGTCACGTTCCGAGACACAGC	0.532													21	77					0	0	1	0	0	T	238050813	C	T	238050813	3	4	448	1	0	0	0	0	1	0	0	0	18260	652	23	1	1052	1	ZP4	1	238050813	Missense_Mutation	SNP	C	TCGA-S9-A7QZ-01A-12D-A34J-08	25932541	238050813	11199808	13	35623											
SLC4A5	57835	broad.mit.edu	37	2	74477594	74477594	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr2:74477594G>A	ENST00000394019.2	-	17	1926	c.1529C>T	c.(1528-1530)cCa>cTa	p.P510L	SLC4A5_ENST00000359484.4_Missense_Mutation_p.P446L|SLC4A5_ENST00000377634.4_Missense_Mutation_p.P510L|SLC4A5_ENST00000358683.4_Missense_Mutation_p.P446L|SLC4A5_ENST00000483195.1_5'UTR|SLC4A5_ENST00000423644.1_Missense_Mutation_p.P510L|RP11-287D1.3_ENST00000451608.2_3'UTR|SLC4A5_ENST00000377632.1_Missense_Mutation_p.P510L|SLC4A5_ENST00000346834.4_Missense_Mutation_p.P510L|SLC4A5_ENST00000357822.5_Missense_Mutation_p.P510L	NM_133478.2	NP_597812.1	Q9BY07	S4A5_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 5	510						apical plasma membrane|integral to membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity			breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						GAAGTCACTTGGGAACCAGGG	0.527											OREG0014716	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	166					0	0	1	0	0	A	74477594	G	A	74477594	3	1	448	1	0	0	0	0	1	0	0	0	14712	1348	47	2	1944	2	SLC4A5	2	74477594	Missense_Mutation	SNP	G	TCGA-S9-A7QZ-01A-12D-A34J-08		74477594	168721779	14	35624											
SLC20A1	6574	broad.mit.edu	37	2	113418740	113418740	+	Silent	SNP	A	A	G			TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr2:113418740A>G	ENST00000272542.3	+	10	2354	c.1815A>G	c.(1813-1815)gcA>gcG	p.A605A		NM_005415.4	NP_005406.3	Q8WUM9	S20A1_HUMAN	solute carrier family 20 (phosphate transporter), member 1	605					phosphate metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to plasma membrane	inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|skin(1)|urinary_tract(3)	28						TTGAACTGGCATCTGCCCTCA	0.403													11	79					0	0	1	0	0	G	113418740	A	G	113418740	2	3	448	1	0	0	0	0	0	0	0	1	14493	204	8	3		3	SLC20A1	2	113418740	Silent	SNP	A	TCGA-S9-A7QZ-01A-12D-A34J-08	38941146	113418740	129780633	15	35625											
ANKAR	150709	broad.mit.edu	37	2	190541787	190541788	+	Frame_Shift_Del	DEL	AA	AA	-	rs141582205	byFrequency	TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr2:190541787_190541788delAA	ENST00000520309.1	+	2	659_660	c.571_572delAA	c.(571-573)aaafs	p.K191fs	ANKAR_ENST00000313581.4_Frame_Shift_Del_p.K191fs|ANKAR_ENST00000431575.2_Frame_Shift_Del_p.K120fs|ANKAR_ENST00000438402.2_Frame_Shift_Del_p.K191fs|ANKAR_ENST00000461516.1_Intron|ANKAR_ENST00000281412.6_5'UTR	NM_144708.3	NP_653309.3	Q7Z5J8	ANKAR_HUMAN	ankyrin and armadillo repeat containing	191						integral to membrane	binding			breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)			TCAAACAAATAAAGACATTTTT	0.351													15	66	---	---	---	---						-	190541788	AA	-	190541787	7	5	448	1	0	1	0	1	0	0	0	0	619	363	13	0	573	0	ANKAR	2	190541787	Frame_Shift_Del	DEL	AA	TCGA-S9-A7QZ-01A-12D-A34J-08	77123047	190541787	52657586	16	35626											
MDH1B	130752	broad.mit.edu	37	2	207621661	207621661	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr2:207621661A>G	ENST00000374412.3	-	4	649	c.374T>C	c.(373-375)cTg>cCg	p.L125P	MDH1B_ENST00000392214.2_Missense_Mutation_p.L125P|MDH1B_ENST00000449792.1_Missense_Mutation_p.L27P|MDH1B_ENST00000454776.2_Missense_Mutation_p.L125P	NM_001039845.1|NM_001282940.1	NP_001034934.1|NP_001269869.1	Q5I0G3	MDH1B_HUMAN	malate dehydrogenase 1B, NAD (soluble)	125					carbohydrate metabolic process|malate metabolic process|tricarboxylic acid cycle		binding|malate dehydrogenase activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(14)|ovary(4)|stomach(1)	34				LUSC - Lung squamous cell carcinoma(261;0.0763)|Epithelial(149;0.131)|Lung(261;0.145)		GCAAGTTTTCAGGGCTTCTTC	0.428													16	89					0	0	1	0	0	G	207621661	A	G	207621661	3	3	448	1	0	0	0	0	1	0	0	0	9459	188	7	3	1218	3	MDH1B	2	207621661	Missense_Mutation	SNP	A	TCGA-S9-A7QZ-01A-12D-A34J-08	17079874	207621661	35577712	17	35627											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								45	70					0	0	1	0	0	T	209113112	C	T	209113112	3	4	448	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-S9-A7QZ-01A-12D-A34J-08	1491451	209113112	34086261	18	35628											
COL6A3	1293	broad.mit.edu	37	2	238280668	238280668	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr2:238280668C>T	ENST00000295550.4	-	9	4444	c.3992G>A	c.(3991-3993)cGc>cAc	p.R1331H	COL6A3_ENST00000347401.3_Missense_Mutation_p.R1130H|COL6A3_ENST00000472056.1_Missense_Mutation_p.R724H|COL6A3_ENST00000346358.4_Missense_Mutation_p.R1131H|COL6A3_ENST00000409809.1_Missense_Mutation_p.R1125H|COL6A3_ENST00000392003.2_Missense_Mutation_p.R924H|COL6A3_ENST00000353578.4_Missense_Mutation_p.R1125H|COL6A3_ENST00000392004.3_Missense_Mutation_p.R1125H	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1331	Nonhelical region.|VWFA 7.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CTCTTCAATGCGGCTCCCCAG	0.632													11	46					0	0	1	0	0	T	238280668	C	T	238280668	3	4	448	1	0	0	0	0	1	0	0	0	3724	768	27	1	5732	1	COL6A3	2	238280668	Missense_Mutation	SNP	C	TCGA-S9-A7QZ-01A-12D-A34J-08	29167556	238280668	4918705	19	35629											
COL7A1	1294	broad.mit.edu	37	3	48602392	48602392	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr3:48602392T>C	ENST00000328333.8	-	117	8749	c.8642A>G	c.(8641-8643)gAt>gGt	p.D2881G	COL7A1_ENST00000470076.1_5'UTR|COL7A1_ENST00000454817.1_Missense_Mutation_p.D2849G	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	2881	BPTI/Kunitz inhibitor.|Nonhelical region (NC2).				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GGAGCCCTCATCCAGTGGCAG	0.612													4	81					0	0	1	0	0	C	48602392	T	C	48602392	3	2	448	1	0	0	0	0	1	0	0	0	3727	1435	50	3	200	3	COL7A1	3	48602392	Missense_Mutation	SNP	T	TCGA-S9-A7QZ-01A-12D-A34J-08		48602392	149420038	20	35630											
ARL6	84100	broad.mit.edu	37	3	97486990	97486992	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr3:97486990_97486992delGAA	ENST00000463745.1	+	2	516_518	c.39_41delGAA	c.(37-42)ctgaag>ctg	p.K16del	ARL6_ENST00000394206.1_In_Frame_Del_p.K16del|ARL6_ENST00000335979.2_In_Frame_Del_p.K16del|ARL6_ENST00000496713.1_3'UTR	NM_001278293.1	NP_001265222.1	Q9H0F7	ARL6_HUMAN	ADP-ribosylation factor-like 6	16					cilium assembly|determination of left/right symmetry|melanosome transport|protein polymerization|protein targeting to membrane|small GTPase mediated signal transduction|visual perception|Wnt receptor signaling pathway	axonemal microtubule|cilium axoneme|cilium membrane|membrane coat|microtubule basal body	GTP binding|metal ion binding|phospholipid binding|protein binding			large_intestine(1)|lung(4)	5		Lung NSC(201;0.0193)|Prostate(884;0.174)		LUSC - Lung squamous cell carcinoma(29;0.0118)|Lung(72;0.0189)		TGCTTGGCCTGAAGAAGAAGGAG	0.35													10	168	---	---	---	---						-	97486992	GAA	-	97486990	7	5	448	1	0	1	0	1	0	0	0	0	940	1277	45	0	41	0	ARL6	3	97486990	In_Frame_Del	DEL	GAA	TCGA-S9-A7QZ-01A-12D-A34J-08	48884598	97486990	100535440	21	35631											
DIRC2	84925	broad.mit.edu	37	3	122578991	122578991	+	Silent	SNP	A	A	G			TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr3:122578991A>G	ENST00000261038.5	+	7	1478	c.1080A>G	c.(1078-1080)tcA>tcG	p.S360S		NM_032839.2	NP_116228.1	Q96SL1	DIRC2_HUMAN	disrupted in renal carcinoma 2	360					transport	integral to membrane				endometrium(2)|large_intestine(1)|lung(14)|prostate(1)	18				GBM - Glioblastoma multiforme(114;0.0614)		CTACACTGTCATCCACGTGGT	0.378													41	85					0	0	1	0	0	G	122578991	A	G	122578991	2	3	448	1	0	0	0	0	0	0	0	1	4562	204	8	3		3	DIRC2	3	122578991	Silent	SNP	A	TCGA-S9-A7QZ-01A-12D-A34J-08	25092001	122578991	75443439	22	35632											
ATR	545	broad.mit.edu	37	3	142281276	142281276	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr3:142281276T>C	ENST00000350721.4	-	4	1089	c.968A>G	c.(967-969)gAa>gGa	p.E323G	ATR_ENST00000383101.3_Missense_Mutation_p.E323G	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related	323					cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						ACAGAGTTTTTCCAGCAGCAT	0.368								Other conserved DNA damage response genes					12	114					0	0	1	0	0	C	142281276	T	C	142281276	3	2	448	1	0	0	0	0	1	0	0	0	1202	1783	62	3	7142	3	ATR	3	142281276	Missense_Mutation	SNP	T	TCGA-S9-A7QZ-01A-12D-A34J-08	19702285	142281276	55741154	23	35633											
THPO	7066	broad.mit.edu	37	3	184093747	184093747	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr3:184093747C>T	ENST00000204615.7	-	3	284	c.70G>A	c.(70-72)Gct>Act	p.A24T	THPO_ENST00000445696.2_Missense_Mutation_p.A24T|THPO_ENST00000421442.2_Missense_Mutation_p.A24T|EIF2B5_ENST00000444495.1_Intron	NM_000460.2|NM_001177597.1|NM_001177598.1	NP_000451.1|NP_001171068.1|NP_001171069.1	P40225	TPO_HUMAN	thrombopoietin	24					cell proliferation|platelet activation	extracellular space	cytokine activity|growth factor activity|hormone activity			NS(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GCAGGAGGAGCCGGGCTGGAC	0.507													4	74					0	0	1	0	0	T	184093747	C	T	184093747	3	4	448	1	0	0	0	0	1	0	0	0	15932	739	26	2	1007	2	THPO	3	184093747	Missense_Mutation	SNP	C	TCGA-S9-A7QZ-01A-12D-A34J-08	41812471	184093747	13928683	24	35634											
ATP13A5	344905	broad.mit.edu	37	3	193002701	193002702	+	Splice_Site	DEL	AC	AC	-			TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr3:193002701_193002702delAC	ENST00000342358.4	-	27	3344		c.e27+1		ATP13A5_ENST00000495496.1_Splice_Site	NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5						ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		TTATATACTTACAGTTTGTATA	0.396													11	42	---	---	---	---						-	193002702	AC	-	193002701	8	5	448	1	0	1	0	1	0	0	1	0	1126	405	14	0	442	0	ATP13A5	3	193002701	Splice_Site	DEL	AC	TCGA-S9-A7QZ-01A-12D-A34J-08	8908954	193002701	5019729	25	35635											
GP5	2814	broad.mit.edu	37	3	194117609	194117609	+	Frame_Shift_Del	DEL	C	C	-			TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr3:194117609delC	ENST00000401815.1	-	1	1474	c.1403delG	c.(1402-1404)ggtfs	p.G468fs	GP5_ENST00000323007.3_Frame_Shift_Del_p.G468fs			P40197	GPV_HUMAN	glycoprotein V (platelet)	468	LRRCT.				blood coagulation, intrinsic pathway|cell adhesion|platelet activation	integral to plasma membrane				breast(3)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(14)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	35	all_cancers(143;6.64e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;7.38e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.06e-05)		CTCCGCGTCACCCCCCGGCAG	0.781													7	24	---	---	---	---						-	194117609	C	-	194117609	7	5	448	1	0	1	0	1	0	0	0	0	6623	507	18	0	283	0	GP5	3	194117609	Frame_Shift_Del	DEL	C	TCGA-S9-A7QZ-01A-12D-A34J-08	1114908	194117609	3904821	26	35636											
TNK2	10188	broad.mit.edu	37	3	195605334	195605334	+	Missense_Mutation	SNP	G	G	A	rs141404332	by1000genomes	TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr3:195605334G>A	ENST00000333602.6	-	8	1761	c.1144C>T	c.(1144-1146)Cgg>Tgg	p.R382W	TNK2_ENST00000428187.1_Missense_Mutation_p.R414W|TNK2_ENST00000316664.3_Missense_Mutation_p.R382W|TNK2_ENST00000392400.1_Missense_Mutation_p.R382W|TNK2_ENST00000381916.2_Missense_Mutation_p.R445W	NM_005781.4	NP_005772.3	Q07912	ACK1_HUMAN	tyrosine kinase, non-receptor, 2	382	Protein kinase.			Missing (in Ref. 4; AAH08884).	positive regulation of peptidyl-tyrosine phosphorylation|protein ubiquitination|small GTPase mediated signal transduction	adherens junction|cytoplasmic vesicle membrane|endosome|nucleus	ATP binding|GTPase inhibitor activity|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding	p.R445W(2)		central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	29	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	Adenosine triphosphate(DB00171)	AGGAAGTCCCGCAGGGCCACA	0.652													4	117					0	0	1	0	0	A	195605334	G	A	195605334	3	1	448	1	0	0	0	0	1	0	0	0	16378	1086	38	1	2053	1	TNK2	3	195605334	Missense_Mutation	SNP	G	TCGA-S9-A7QZ-01A-12D-A34J-08	1487725	195605334	2417096	27	35637											
UGT2B17	7367	broad.mit.edu	37	4	69403357	69403357	+	Nonsense_Mutation	SNP	T	T	A			TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr4:69403357T>A	ENST00000317746.2	-	6	1621	c.1579A>T	c.(1579-1581)Aag>Tag	p.K527*		NM_001077.3	NP_001068.1	O75795	UDB17_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B17	527					steroid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(14)|ovary(2)|prostate(1)	30						TCCCTTTTCTTCTTCTTTCCT	0.408													34	77					0	0	1	0	0	A	69403357	T	A	69403357	4	1	448	1	0	0	0	0	0	1	0	0	17019	1792	62	5	17	5	UGT2B17	4	69403357	Nonsense_Mutation	SNP	T	TCGA-S9-A7QZ-01A-12D-A34J-08		69403357	121750919	28	35638											
UGT2A3	79799	broad.mit.edu	37	4	69795658	69795658	+	Missense_Mutation	SNP	T	T	G			TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr4:69795658T>G	ENST00000251566.4	-	6	1487	c.1457A>C	c.(1456-1458)cAc>cCc	p.H486P	UGT2A3_ENST00000420231.2_Missense_Mutation_p.H197P	NM_024743.3	NP_079019.3	Q6UWM9	UD2A3_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A3	486						integral to membrane	glucuronosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						TATAGAGTAGTGCTGGAACCA	0.453													9	117					0	0	1	0	0	G	69795658	T	G	69795658	3	3	448	1	0	0	0	0	1	0	0	0	17015	1696	59	5	130	5	UGT2A3	4	69795658	Missense_Mutation	SNP	T	TCGA-S9-A7QZ-01A-12D-A34J-08	392301	69795658	121358618	29	35639											
ADH1A	124	broad.mit.edu	37	4	100208068	100208068	+	Silent	SNP	T	T	C			TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr4:100208068T>C	ENST00000209668.2	-	3	311	c.198A>G	c.(196-198)ttA>ttG	p.L66L	RP11-696N14.1_ENST00000500358.2_RNA|ADH1A_ENST00000511656.1_5'UTR	NM_000667.3	NP_000658.1	P07327	ADH1A_HUMAN	alcohol dehydrogenase 1A (class I), alpha polypeptide	66					ethanol oxidation|transcription, DNA-dependent|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|protein binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)	25				OV - Ovarian serous cystadenocarcinoma(123;9.56e-08)	Fomepizole(DB01213)|NADH(DB00157)	CCTCATGGCCTAAAATCACAG	0.498													4	220					0	0	1	0	0	C	100208068	T	C	100208068	2	2	448	1	0	0	0	0	0	0	0	1	306	1519	53	3		3	ADH1A	4	100208068	Silent	SNP	T	TCGA-S9-A7QZ-01A-12D-A34J-08	30412410	100208068	90946208	30	35640											
CENPE	1062	broad.mit.edu	37	4	104066385	104066385	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr4:104066385T>C	ENST00000265148.3	-	32	4768	c.4679A>G	c.(4678-4680)aAg>aGg	p.K1560R	CENPE_ENST00000380026.3_Missense_Mutation_p.K1535R	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	1560					blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		TGCTGAATCCTTGGCTTTGCG	0.333													20	78					0	0	1	0	0	C	104066385	T	C	104066385	3	2	448	1	0	0	0	0	1	0	0	0	3252	1609	56	3	3498	3	CENPE	4	104066385	Missense_Mutation	SNP	T	TCGA-S9-A7QZ-01A-12D-A34J-08	3858317	104066385	87087891	31	35641											
GHR	2690	broad.mit.edu	37	5	42718951	42718951	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr5:42718951G>A	ENST00000230882.4	+	10	1532	c.1342G>A	c.(1342-1344)Gtt>Att	p.V448I	GHR_ENST00000357703.3_Missense_Mutation_p.V426I|GHR_ENST00000537449.1_Missense_Mutation_p.V261I	NM_000163.4|NM_001242399.2|NM_001242400.2|NM_001242401.3|NM_001242402.2|NM_001242403.2|NM_001242404.2|NM_001242405.2|NM_001242406.2	NP_000154.1|NP_001229328.1|NP_001229329.1|NP_001229330.1|NP_001229331.1|NP_001229332.1|NP_001229333.1|NP_001229334.1|NP_001229335.1	P10912	GHR_HUMAN	growth hormone receptor	448					2-oxoglutarate metabolic process|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|JAK-STAT cascade|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane	growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding			NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39		Myeloproliferative disorder(839;0.00878)			Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	GCAGCCCAGTGTTATCCAAGC	0.448													22	66					0	0	1	0	0	A	42718951	G	A	42718951	3	1	448	1	0	0	0	0	1	0	0	0	6413	1377	48	2	1376	2	GHR	5	42718951	Missense_Mutation	SNP	G	TCGA-S9-A7QZ-01A-12D-A34J-08		42718951	138196309	32	35642											
RIOK2	55781	broad.mit.edu	37	5	96503256	96503258	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr5:96503256_96503258delCTC	ENST00000283109.3	-	8	1378_1380	c.1310_1312delGAG	c.(1309-1314)ggagtc>gtc	p.G437del	RIOK2_ENST00000508447.1_In_Frame_Del_p.G437del|CTD-2215E18.1_ENST00000509481.1_Intron	NM_018343.2	NP_060813.2	Q9BVS4	RIOK2_HUMAN	RIO kinase 2	437	Protein kinase.						ATP binding|protein serine/threonine kinase activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|urinary_tract(2)	23		all_cancers(142;0.000125)|all_epithelial(76;8.48e-07)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0676)|Ovarian(225;0.105)		COAD - Colon adenocarcinoma(37;0.0657)		CCAGCAGGGACTCCTCCTTGAAC	0.419													7	174	---	---	---	---						-	96503258	CTC	-	96503256	7	5	448	1	0	1	0	1	0	0	0	0	13430	565	20	0	386	0	RIOK2	5	96503256	In_Frame_Del	DEL	CTC	TCGA-S9-A7QZ-01A-12D-A34J-08	53784305	96503256	84412004	33	35643											
PCDHB13	56123	broad.mit.edu	37	5	140595357	140595359	+	In_Frame_Del	DEL	CAA	CAA	-			TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr5:140595357_140595359delCAA	ENST00000341948.4	+	1	1849_1851	c.1662_1664delCAA	c.(1660-1665)gccaac>gcc	p.N555del		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN		555	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGCTGGACGCCAACGACAACTCG	0.719													19	102	---	---	---	---						-	140595359	CAA	-	140595357	7	5	448	1	0	1	0	1	0	0	0	0	11585	581	21	0	1664	0	PCDHB13	5	140595357	In_Frame_Del	DEL	CAA	TCGA-S9-A7QZ-01A-12D-A34J-08	44092101	140595357	40319903	34	35644											
ZNF311	282890	broad.mit.edu	37	6	28963010	28963010	+	Missense_Mutation	SNP	G	G	A	rs75164486	byFrequency	TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr6:28963010G>A	ENST00000377179.3	-	7	2281	c.1769C>T	c.(1768-1770)aCg>aTg	p.T590M	ZNF311_ENST00000483450.1_5'UTR	NM_001010877.2	NP_001010877.2	Q5JNZ3	ZN311_HUMAN	zinc finger protein 311	590					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(2)	28						ACGGAAGGACGTGCCACACTC	0.488													9	110					0	0	1	0	0	A	28963010	G	A	28963010	3	1	448	1	0	0	0	0	1	0	0	0	17891	1145	40	1	235	1	ZNF311	6	28963010	Missense_Mutation	SNP	G	TCGA-S9-A7QZ-01A-12D-A34J-08		28963010	142152057	35	35645											
ABCC10	89845	broad.mit.edu	37	6	43415432	43415432	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr6:43415432G>A	ENST00000244533.3	+	16	3991	c.3632G>A	c.(3631-3633)gGc>gAc	p.G1211D	ABCC10_ENST00000372530.4_Missense_Mutation_p.G1239D	NM_033450.2	NP_258261.2	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	1239						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			CTGGGCACCGGCTGGCTGACC	0.632													6	357					0	0	1	0	0	A	43415432	G	A	43415432	3	1	448	1	0	0	0	0	1	0	0	0	50	1203	42	2	3694	2	ABCC10	6	43415432	Missense_Mutation	SNP	G	TCGA-S9-A7QZ-01A-12D-A34J-08	14452422	43415432	127699635	36	35646											
PKHD1	5314	broad.mit.edu	37	6	51824709	51824709	+	Missense_Mutation	SNP	A	A	T			TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr6:51824709A>T	ENST00000371117.3	-	36	6142	c.5867T>A	c.(5866-5868)cTg>cAg	p.L1956Q	PKHD1_ENST00000340994.4_Missense_Mutation_p.L1956Q	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	1956	G8 1.				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)					GTTAGTGTCCAGCAGAAGCAA	0.458											OREG0017492	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	183					0	0	1	0	0	T	51824709	A	T	51824709	3	4	448	1	0	0	0	0	1	0	0	0	12019	188	7	5	6524	5	PKHD1	6	51824709	Missense_Mutation	SNP	A	TCGA-S9-A7QZ-01A-12D-A34J-08	8409277	51824709	119290358	37	35647											
GSTA3	2940	broad.mit.edu	37	6	52764820	52764822	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr6:52764820_52764822delAGA	ENST00000211122.3	-	5	389_391	c.324_326delTCT	c.(322-327)cttctg>ctg	p.108_109LL>L	GSTA3_ENST00000370968.1_In_Frame_Del_p.58_59LL>L	NM_000847.4	NP_000838.3	Q16772	GSTA3_HUMAN	glutathione S-transferase alpha 3	108	GST C-terminal.				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity			cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(2)	10	Lung NSC(77;0.0912)				Glutathione(DB00143)	ACATAAGGGCAGAAGAAGGATCA	0.389													9	217	---	---	---	---						-	52764822	AGA	-	52764820	7	5	448	1	0	1	0	1	0	0	0	0	6873	188	7	0	354	0	GSTA3	6	52764820	In_Frame_Del	DEL	AGA	TCGA-S9-A7QZ-01A-12D-A34J-08	940111	52764820	118350247	38	35648											
COL12A1	1303	broad.mit.edu	37	6	75875253	75875255	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr6:75875253_75875255delCTC	ENST00000322507.8	-	14	3260_3262	c.2951_2953delGAG	c.(2950-2955)ggagaa>gaa	p.G984del	COL12A1_ENST00000345356.6_Intron|COL12A1_ENST00000416123.2_In_Frame_Del_p.G984del|COL12A1_ENST00000483888.2_In_Frame_Del_p.G984del	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	984	Fibronectin type-III 6.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						GTCAAAGGTTCTCCTTCTCCACT	0.429													34	127	---	---	---	---						-	75875255	CTC	-	75875253	7	5	448	1	0	1	0	1	0	0	0	0	3692	922	32	0	6450	0	COL12A1	6	75875253	In_Frame_Del	DEL	CTC	TCGA-S9-A7QZ-01A-12D-A34J-08	23110433	75875253	95239814	39	35649											
OGDH	4967	broad.mit.edu	37	7	44737090	44737090	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr7:44737090G>A	ENST00000222673.5	+	16	2215	c.2173G>A	c.(2173-2175)Gtg>Atg	p.V725M	OGDH_ENST00000447398.1_Missense_Mutation_p.V736M|OGDH_ENST00000543843.1_Missense_Mutation_p.V676M|OGDH_ENST00000439616.2_Missense_Mutation_p.V575M|OGDH_ENST00000449767.1_Missense_Mutation_p.V721M|OGDH_ENST00000444676.1_Missense_Mutation_p.V740M	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN	oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	725					glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					NADH(DB00157)	TGAGTACGGCGTGCTGGGTGA	0.592													26	64					0	0	1	0	0	A	44737090	G	A	44737090	3	1	448	1	0	0	0	0	1	0	0	0	10887	1145	40	1	2404	1	OGDH	7	44737090	Missense_Mutation	SNP	G	TCGA-S9-A7QZ-01A-12D-A34J-08		44737090	114401573	40	35650											
DLX6	1750	broad.mit.edu	37	7	96635420	96635421	+	In_Frame_Ins	INS	-	-	GCC			TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr7:96635420_96635421insGCC	ENST00000518156.2	+	1	561_562	c.131_132insGCC	c.(130-135)cagccg>caGCCgccg	p.53_54insP	DLX6-AS1_ENST00000452769.2_RNA|DLX6-AS1_ENST00000437541.1_RNA|DLX6-AS1_ENST00000437331.2_RNA|DLX6-AS1_ENST00000430404.2_RNA|DLX6-AS1_ENST00000430027.3_RNA|DLX6-AS1_ENST00000458352.2_RNA|DLX6_ENST00000007660.5_Intron|DLX6-AS1_ENST00000605417.1_RNA			P56179	DLX6_HUMAN	distal-less homeobox 6	0					nervous system development|skeletal system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(2)|lung(4)|ovary(2)|urinary_tract(1)	12	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)					caacagcaacagccgccgccgc	0.698													2	4	---	---	---	---						GCC	96635421	-	GCC	96635420	7	5	448	1	0	1	1	0	0	0	0	0	4603	188	7	0	133	0	DLX6	7	96635420	In_Frame_Ins	INS	-	TCGA-S9-A7QZ-01A-12D-A34J-08	51898330	96635420	62503243	41	35651											
RELN	5649	broad.mit.edu	37	7	103216050	103216050	+	Silent	SNP	G	G	A			TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr7:103216050G>A	ENST00000424685.2	-	29	4407	c.4248C>T	c.(4246-4248)tgC>tgT	p.C1416C	RELN_ENST00000343529.5_Silent_p.C1416C|RELN_ENST00000428762.1_Silent_p.C1416C			P78509	RELN_HUMAN	reelin	1416	EGF-like 3.				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CATGGCCACTGCAGTAACTGG	0.463													4	96					0	0	1	0	0	A	103216050	G	A	103216050	2	1	448	1	0	0	0	0	0	0	0	1	13272	1311	46	2		2	RELN	7	103216050	Silent	SNP	G	TCGA-S9-A7QZ-01A-12D-A34J-08	6580630	103216050	55922613	42	35652											
SSPO	23145	broad.mit.edu	37	7	149473220	149473222	+	RNA	DEL	CTT	CTT	-			TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr7:149473220_149473222delCTT	ENST00000378016.2	+	0	50							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			AAGGGTCCTCCTTCTGCCGCATG	0.675													9	19	---	---	---	---						-	149473222	CTT	-	149473220	6	5	448	0	1	1	0	1	0	0	0	0	15245	696	24	0		0	SSPO	7	149473220	RNA	DEL	CTT	TCGA-S9-A7QZ-01A-12D-A34J-08	46257170	149473220	9665443	43	35653											
STC1	6781	broad.mit.edu	37	8	23702537	23702537	+	Missense_Mutation	SNP	C	C	A			TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr8:23702537C>A	ENST00000290271.2	-	4	773	c.490G>T	c.(490-492)Gtc>Ttc	p.V164F	STC1_ENST00000524323.1_Missense_Mutation_p.V95F	NM_003155.2	NP_003146.1	P52823	STC1_HUMAN	stanniocalcin 1	164					cell surface receptor linked signaling pathway|cell-cell signaling|cellular calcium ion homeostasis		hormone activity	p.V164L(1)		breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26		Prostate(55;0.055)|Breast(100;0.116)		Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632)		AGGCTTCGGACAAGTCTGTTA	0.522													7	111					5.18039e-06	5.33055e-06	1	1	0	A	23702537	C	A	23702537	3	1	448	1	0	0	0	0	1	0	0	0	15331	478	17	5	257	5	STC1	8	23702537	Missense_Mutation	SNP	C	TCGA-S9-A7QZ-01A-12D-A34J-08		23702537	122661485	44	35654											
PRKDC	5591	broad.mit.edu	37	8	48852241	48852241	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr8:48852241G>A	ENST00000314191.2	-	11	1039	c.983C>T	c.(982-984)gCg>gTg	p.A328V	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Missense_Mutation_p.A328V	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	328					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				TGCATTTTTCGCCACCATATT	0.294								Non-homologous end-joining					10	50					0	0	1	0	0	A	48852241	G	A	48852241	3	1	448	1	0	0	0	0	1	0	0	0	12573	1087	38	1	11706	1	PRKDC	8	48852241	Missense_Mutation	SNP	G	TCGA-S9-A7QZ-01A-12D-A34J-08	25149704	48852241	97511781	45	35655											
PDE7A	5150	broad.mit.edu	37	8	66695041	66695041	+	Missense_Mutation	SNP	G	G	A	rs61736484	byFrequency	TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr8:66695041G>A	ENST00000401827.3	-	2	619	c.176C>T	c.(175-177)aCt>aTt	p.T59I	PDE7A_ENST00000396642.3_Missense_Mutation_p.T59I|PDE7A_ENST00000379419.4_Missense_Mutation_p.T33I	NM_001242318.2	NP_001229247.1	Q13946	PDE7A_HUMAN	phosphodiesterase 7A	59						cell fraction|cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			large_intestine(5)|lung(3)|stomach(1)|urinary_tract(1)	10			Epithelial(68;0.0509)|BRCA - Breast invasive adenocarcinoma(89;0.111)|all cancers(69;0.168)|OV - Ovarian serous cystadenocarcinoma(28;0.238)		Dyphylline(DB00651)|Ketotifen(DB00920)	GTATAATGCAGTCTGATCAGA	0.289													5	40					0	0	1	0	0	A	66695041	G	A	66695041	3	1	448	1	0	0	0	0	1	0	0	0	11698	1029	36	2	1352	2	PDE7A	8	66695041	Missense_Mutation	SNP	G	TCGA-S9-A7QZ-01A-12D-A34J-08	17842800	66695041	79668981	46	35656											
PKHD1L1	93035	broad.mit.edu	37	8	110457474	110457474	+	Missense_Mutation	SNP	G	G	C			TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr8:110457474G>C	ENST00000378402.5	+	38	5480	c.5376G>C	c.(5374-5376)gaG>gaC	p.E1792D		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1792	IPT/TIG 10.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GAGCAATAGAGGTTAATGAAA	0.423										HNSCC(38;0.096)			9	90					0	0	1	0	0	C	110457474	G	C	110457474	3	2	448	1	0	0	0	0	1	0	0	0	12020	991	35	4	5526	4	PKHD1L1	8	110457474	Missense_Mutation	SNP	G	TCGA-S9-A7QZ-01A-12D-A34J-08	43762433	110457474	35906548	47	35657											
EFR3A	23167	broad.mit.edu	37	8	132968029	132968031	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr8:132968029_132968031delCTT	ENST00000254624.5	+	7	878_880	c.653_655delCTT	c.(652-657)ccttct>cct	p.S220del	EFR3A_ENST00000334503.4_In_Frame_Del_p.S220del|EFR3A_ENST00000519656.1_In_Frame_Del_p.S184del	NM_015137.4	NP_055952.2	Q14156	EFR3A_HUMAN	EFR3 homolog A (S. cerevisiae)	220						plasma membrane	binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|skin(1)|stomach(2)	35	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102)			ATAGGCCCTCCTTCTTCTCCTTC	0.355													12	147	---	---	---	---						-	132968031	CTT	-	132968029	7	5	448	1	0	1	0	1	0	0	0	0	4984	681	24	0	679	0	EFR3A	8	132968029	In_Frame_Del	DEL	CTT	TCGA-S9-A7QZ-01A-12D-A34J-08	22510555	132968029	13395993	48	35658											
ZNF462	58499	broad.mit.edu	37	9	109692929	109692929	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr9:109692929G>A	ENST00000277225.5	+	4	6260	c.5971G>A	c.(5971-5973)Gtc>Atc	p.V1991I	ZNF462_ENST00000497489.1_3'UTR|ZNF462_ENST00000457913.1_Missense_Mutation_p.V1991I|ZNF462_ENST00000441147.2_Missense_Mutation_p.V836I			Q96JM2	ZN462_HUMAN	zinc finger protein 462	1991					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						CCGAAAGCACGTCCAGTATGG	0.498													4	67					0	0	1	0	0	A	109692929	G	A	109692929	3	1	448	1	0	0	0	0	1	0	0	0	17983	1145	40	1	5981	1	ZNF462	9	109692929	Missense_Mutation	SNP	G	TCGA-S9-A7QZ-01A-12D-A34J-08		109692929	31520502	49	35659											
AKNA	80709	broad.mit.edu	37	9	117106023	117106023	+	Missense_Mutation	SNP	C	C	G			TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr9:117106023C>G	ENST00000307564.4	-	19	3883	c.3722G>C	c.(3721-3723)tGt>tCt	p.C1241S	AKNA_ENST00000374088.3_Missense_Mutation_p.C1241S|AKNA_ENST00000223791.3_Missense_Mutation_p.C701S|AKNA_ENST00000492875.1_5'UTR|AKNA_ENST00000374075.5_Missense_Mutation_p.C1160S|AKNA_ENST00000374079.4_Missense_Mutation_p.C186S	NM_030767.4	NP_110394.3	Q7Z591	AKNA_HUMAN	AT-hook transcription factor	1241					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						GCAGTGGGGACAGGAGACTGT	0.587													6	57					0	0	1	0	0	G	117106023	C	G	117106023	3	3	448	1	0	0	0	0	1	0	0	0	460	478	17	5	613	5	AKNA	9	117106023	Missense_Mutation	SNP	C	TCGA-S9-A7QZ-01A-12D-A34J-08	7413094	117106023	24107408	50	35660											
ZBTB34	403341	broad.mit.edu	37	9	129642336	129642336	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr9:129642336G>A	ENST00000319119.4	+	2	743	c.658G>A	c.(658-660)Gag>Aag	p.E220K	ZBTB34_ENST00000373452.2_Missense_Mutation_p.E216K	NM_001099270.1	NP_001092740.1	Q8NCN2	ZBT34_HUMAN	zinc finger and BTB domain containing 34	216					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(2)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	12						GATTCAGATAGAGGGAGACCA	0.577													8	61					0	0	1	0	0	A	129642336	G	A	129642336	3	1	448	1	0	0	0	0	1	0	0	0	17596	943	33	2	648	2	ZBTB34	9	129642336	Missense_Mutation	SNP	G	TCGA-S9-A7QZ-01A-12D-A34J-08	12536313	129642336	11571095	51	35661											
TTF1	7270	broad.mit.edu	37	9	135251350	135251350	+	Silent	SNP	G	G	A			TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr9:135251350G>A	ENST00000334270.2	-	11	2709	c.2670C>T	c.(2668-2670)caC>caT	p.H890H	TTF1_ENST00000461970.1_5'UTR	NM_001205296.1|NM_007344.3	NP_001192225.1|NP_031370.2	Q15361	TTF1_HUMAN	transcription termination factor, RNA polymerase I	890					negative regulation of DNA replication|regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription	nucleolus|nucleoplasm	DNA binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)		aattacaggcgtgagccatgc	0.493													4	50					0	0	1	0	0	A	135251350	G	A	135251350	2	1	448	1	0	0	0	0	0	0	0	1	16780	1136	40	1		1	TTF1	9	135251350	Silent	SNP	G	TCGA-S9-A7QZ-01A-12D-A34J-08	5609014	135251350	5962081	52	35662											
CCDC3	83643	broad.mit.edu	37	10	12940560	12940562	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr10:12940560_12940562delCTT	ENST00000378839.1	-	7	1244_1246	c.292_294delAAG	c.(292-294)aagdel	p.K98del	CCDC3_ENST00000378825.3_In_Frame_Del_p.K223del	NM_001282658.1	NP_001269587.1	Q9BQI4	CCDC3_HUMAN	coiled-coil domain containing 3	223						endoplasmic reticulum|extracellular region				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|prostate(2)	11		Ovarian(717;0.0822)	BRCA - Breast invasive adenocarcinoma(52;0.163)			ACCTCTTGACCTTCTTCACTCGC	0.631													32	185	---	---	---	---						-	12940562	CTT	-	12940560	7	5	448	1	0	1	0	1	0	0	0	0	2823	680	24	0	147	0	CCDC3	10	12940560	In_Frame_Del	DEL	CTT	TCGA-S9-A7QZ-01A-12D-A34J-08		12940560	122594187	53	35663											
CUBN	8029	broad.mit.edu	37	10	16989236	16989237	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr10:16989236_16989237delAA	ENST00000377833.4	-	36	5404_5405	c.5339_5340delTT	c.(5338-5340)tttfs	p.F1780fs		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	1780	CUB 12.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GGATTTACATAAAAGACAGCTG	0.446													17	87	---	---	---	---						-	16989237	AA	-	16989236	7	5	448	1	0	1	0	1	0	0	0	0	4074	359	13	0	5659	0	CUBN	10	16989236	Frame_Shift_Del	DEL	AA	TCGA-S9-A7QZ-01A-12D-A34J-08	4048676	16989236	118545511	54	35664											
OR9G1	390174	broad.mit.edu	37	11	56468348	56468348	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr11:56468348C>T	ENST00000312153.1	+	1	485	c.485C>T	c.(484-486)aCg>aTg	p.T162M		NM_001005213.1	NP_001005213.1			olfactory receptor, family 9, subfamily G, member 1											breast(2)|kidney(1)|lung(25)|stomach(2)|upper_aerodigestive_tract(1)	31						ACCAAGAAAACGTTTTCCTTT	0.448													5	156					0	0	1	0	0	T	56468348	C	T	56468348	3	4	448	1	0	0	0	0	1	0	0	0	11297	536	19	1	487	1	OR9G1	11	56468348	Missense_Mutation	SNP	C	TCGA-S9-A7QZ-01A-12D-A34J-08		56468348	78538168	55	35665											
CTNND1	1500	broad.mit.edu	37	11	57564168	57564168	+	Silent	SNP	T	T	C			TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr11:57564168T>C	ENST00000524630.1	+	6	1173	c.660T>C	c.(658-660)ggT>ggC	p.G220G	CTNND1_ENST00000428599.2_Silent_p.G220G|CTNND1_ENST00000531014.1_Intron|CTNND1_ENST00000361391.6_Silent_p.G220G|CTNND1_ENST00000526772.1_Intron|CTNND1_ENST00000534579.1_Silent_p.G166G|CTNND1_ENST00000532844.1_Silent_p.G166G|CTNND1_ENST00000532463.1_Silent_p.G119G|CTNND1_ENST00000399039.4_Silent_p.G220G|CTNND1_ENST00000415361.2_Silent_p.G119G|CTNND1_ENST00000533667.1_Intron|CTNND1_ENST00000528232.1_Silent_p.G119G|CTNND1_ENST00000528621.1_Silent_p.G166G|CTNND1_ENST00000358694.6_Silent_p.G220G|CTNND1_ENST00000530094.1_Silent_p.G119G|CTNND1_ENST00000529986.1_Silent_p.G119G|CTNND1_ENST00000529526.1_Silent_p.G166G|CTNND1_ENST00000361796.4_Silent_p.G220G|CTNND1_ENST00000526357.1_Silent_p.G166G|CTNND1_ENST00000360682.6_Silent_p.G220G|CTNND1_ENST00000532649.1_Silent_p.G166G|CTNND1_ENST00000529919.1_Silent_p.G220G|CTNND1_ENST00000532245.1_Silent_p.G119G|CTNND1_ENST00000525902.1_Intron|CTNND1_ENST00000532787.1_Silent_p.G119G|CTNND1_ENST00000526938.1_Silent_p.G220G|CTNND1_ENST00000530748.1_Silent_p.G166G|CTNND1_ENST00000361332.4_Silent_p.G220G|CTNND1_ENST00000529873.1_Silent_p.G166G|CTNND1_ENST00000426142.2_Silent_p.G119G|CTNND1_ENST00000399050.4_Silent_p.G220G|CTNND1_ENST00000527467.1_Intron			O60716	CTND1_HUMAN	catenin (cadherin-associated protein), delta 1	220					adherens junction organization|cell junction assembly|negative regulation of canonical Wnt receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	cytosol|midbody|nucleus	cadherin binding|protein binding|receptor binding			breast(5)|endometrium(8)|kidney(4)|large_intestine(7)|liver(2)|lung(16)|ovary(1)|upper_aerodigestive_tract(2)	45		all_epithelial(135;0.155)				ATGAAGATGGTTATCCAGGTG	0.562													33	109					0	0	1	0	0	C	57564168	T	C	57564168	2	2	448	1	0	0	0	0	0	0	0	1	4043	1712	60	3		3	CTNND1	11	57564168	Silent	SNP	T	TCGA-S9-A7QZ-01A-12D-A34J-08	1095820	57564168	77442348	56	35666											
CCDC88B	283234	broad.mit.edu	37	11	64119066	64119068	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr11:64119066_64119068delAGG	ENST00000356786.5	+	18	3121_3123	c.3077_3079delAGG	c.(3076-3081)caggag>cag	p.E1027del	CCDC88B_ENST00000301897.4_5'UTR|CCDC88B_ENST00000359902.2_In_Frame_Del_p.E179del|CCDC88B_ENST00000463837.1_3'UTR	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN	coiled-coil domain containing 88B	1027					microtubule cytoskeleton organization	cytoplasm	microtubule binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CAGCGGGCGCAGGAGCACAGCAG	0.68													3	6	---	---	---	---						-	64119068	AGG	-	64119066	7	5	448	1	0	1	0	1	0	0	0	0	2884	188	7	0	3147	0	CCDC88B	11	64119066	In_Frame_Del	DEL	AGG	TCGA-S9-A7QZ-01A-12D-A34J-08	6554898	64119066	70887450	57	35667											
CAPZA3	93661	broad.mit.edu	37	12	18891211	18891211	+	Silent	SNP	T	T	A			TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr12:18891211T>A	ENST00000317658.3	+	1	167	c.9T>A	c.(7-9)ctT>ctA	p.L3L		NM_033328.2	NP_201585.1	Q96KX2	CAZA3_HUMAN	capping protein (actin filament) muscle Z-line, alpha 3	3					actin cytoskeleton organization|actin filament capping	F-actin capping protein complex	actin binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)	19	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)	Hepatocellular(102;0.194)				ACATGACACTTAGCGTGCTGA	0.443													22	89					0	0	1	0	0	A	18891211	T	A	18891211	2	1	448	1	0	0	0	0	0	0	0	1	2660	1741	61	5		5	CAPZA3	12	18891211	Silent	SNP	T	TCGA-S9-A7QZ-01A-12D-A34J-08		18891211	114960684	58	35668											
ATF1	466	broad.mit.edu	37	12	51213443	51213445	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr12:51213443_51213445delAAG	ENST00000262053.3	+	7	719_721	c.697_699delAAG	c.(697-699)aagdel	p.K235del	ATF1_ENST00000539132.1_In_Frame_Del_p.K100del	NM_005171.4	NP_005162.1	P18846	ATF1_HUMAN	activating transcription factor 1	235					innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway				EWSR1/ATF1(347)|FUS/ATF1(4)	breast(1)|large_intestine(1)|ovary(2)	4						ATGTCGCAGAAAGAAGAAAGAAT	0.305			T	"EWSR1, FUS"	"malignant melanoma of soft parts , angiomatoid fibrous histiocytoma "								8	101	---	---	---	---						-	51213445	AAG	-	51213443	7	5	448	1	0	1	0	1	0	0	0	0	1078	15	1	0	719	0	ATF1	12	51213443	In_Frame_Del	DEL	AAG	TCGA-S9-A7QZ-01A-12D-A34J-08	32322232	51213443	82638452	59	35669											
OR6C2	341416	broad.mit.edu	37	12	55846632	55846632	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr12:55846632T>C	ENST00000322678.1	+	1	635	c.635T>C	c.(634-636)gTg>gCg	p.V212A	RP11-110A12.2_ENST00000556750.1_RNA|RP11-110A12.2_ENST00000554049.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000555146.1_RNA	NM_054105.1	NP_473446.1	Q9NZP2	OR6C2_HUMAN	olfactory receptor, family 6, subfamily C, member 2	212					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(2)|large_intestine(5)|lung(8)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	23						CTAGTTTGTGTGATTCTGTCC	0.408													44	178					0	0	1	0	0	C	55846632	T	C	55846632	3	2	448	1	0	0	0	0	1	0	0	0	11238	1696	59	3	637	3	OR6C2	12	55846632	Missense_Mutation	SNP	T	TCGA-S9-A7QZ-01A-12D-A34J-08	4633189	55846632	78005263	60	35670											
GLIPR1L1	256710	broad.mit.edu	37	12	75741494	75741494	+	Silent	SNP	C	C	T			TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr12:75741494C>T	ENST00000312442.2	+	3	559	c.513C>T	c.(511-513)taC>taT	p.Y171Y	GLIPR1L1_ENST00000378695.4_Silent_p.Y171Y|CAPS2_ENST00000442339.2_Intron	NM_152779.2	NP_689992.1	Q6UWM5	GPRL1_HUMAN	GLI pathogenesis-related 1 like 1	171						extracellular region				endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)	10						TATGCAACTACGGACCTGCGT	0.358													4	169					0	0	1	0	0	T	75741494	C	T	75741494	2	4	448	1	0	0	0	0	0	0	0	1	6484	547	19	1		1	GLIPR1L1	12	75741494	Silent	SNP	C	TCGA-S9-A7QZ-01A-12D-A34J-08	19894862	75741494	58110401	61	35671											
CCDC41	51134	broad.mit.edu	37	12	94805603	94805603	+	Missense_Mutation	SNP	T	T	A			TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr12:94805603T>A	ENST00000397809.5	-	4	743	c.194A>T	c.(193-195)aAg>aTg	p.K65M	CCDC41_ENST00000339839.5_Missense_Mutation_p.K65M|CCDC41_ENST00000547575.1_Missense_Mutation_p.K65M|CCDC41_ENST00000397807.2_Missense_Mutation_p.K32M	NM_016122.2	NP_057206.2	Q9Y592	CCD41_HUMAN	coiled-coil domain containing 41	57										breast(1)|central_nervous_system(3)|kidney(3)|large_intestine(8)|lung(8)|prostate(2)|skin(2)	27						ATTTTGTAACTTTACATGTTC	0.318													13	96					0	0	1	0	0	A	94805603	T	A	94805603	3	1	448	1	0	0	0	0	1	0	0	0	2832	1609	56	5	1967	5	CCDC41	12	94805603	Missense_Mutation	SNP	T	TCGA-S9-A7QZ-01A-12D-A34J-08	19064109	94805603	39046292	62	35672											
PSME1	5720	broad.mit.edu	37	14	24606348	24606351	+	Splice_Site	DEL	ACAG	ACAG	-			TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr14:24606348_24606351delACAG	ENST00000382708.3	+	3	135		c.e3-1		PSME1_ENST00000206451.6_Splice_Site|PSME1_ENST00000559123.1_Splice_Site|PSME1_ENST00000470718.1_Splice_Site|PSME1_ENST00000561435.1_Splice_Site	NM_176783.1	NP_788955.1	Q06323	PSME1_HUMAN	proteasome (prosome, macropain) activator subunit 1 (PA28 alpha)						anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|proteasome activator complex				endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11				GBM - Glioblastoma multiforme(265;0.00831)		CACCTCACACACAGACAGAGAACC	0.574													11	259	---	---	---	---						-	24606351	ACAG	-	24606348	8	5	448	1	0	1	0	1	0	0	1	0	12755	174	6	0		0	PSME1	14	24606348	Splice_Site	DEL	ACAG	TCGA-S9-A7QZ-01A-12D-A34J-08		24606348	82743192	63	35673											
DAAM1	23002	broad.mit.edu	37	14	59798010	59798010	+	Silent	SNP	C	C	A			TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr14:59798010C>A	ENST00000395125.1	+	13	1667	c.1644C>A	c.(1642-1644)ctC>ctA	p.L548L	DAAM1_ENST00000360909.3_Silent_p.L548L|DAAM1_ENST00000351081.1_Silent_p.L548L	NM_014992.2	NP_055807.1	Q9Y4D1	DAAM1_HUMAN	dishevelled associated activator of morphogenesis 1	548	FH1.|Pro-rich.				actin cytoskeleton organization	cytoplasm|plasma membrane	actin binding|Rho GTPase binding			breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.165)		CTGGATCTCTCCTTCCTCCCC	0.637													39	43					3.54909e-21	3.76098e-21	1	1	0	A	59798010	C	A	59798010	2	1	448	1	0	0	0	0	0	0	0	1	4239	842	30	5		5	DAAM1	14	59798010	Silent	SNP	C	TCGA-S9-A7QZ-01A-12D-A34J-08	35191662	59798010	47551530	64	35674											
YLPM1	56252	broad.mit.edu	37	14	75265962	75265963	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr14:75265962_75265963delCA	ENST00000325680.7	+	5	4086_4087	c.3962_3963delCA	c.(3961-3963)tcafs	p.S1321fs	YLPM1_ENST00000238571.3_Frame_Shift_Del_p.S1126fs|YLPM1_ENST00000552421.1_Intron	NM_019589.2	NP_062535.2	P49750	YLPM1_HUMAN	YLP motif containing 1	1126					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck				breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		GAACAAGAATCACAGTTTCGTG	0.446													8	76	---	---	---	---						-	75265963	CA	-	75265962	7	5	448	1	0	1	0	1	0	0	0	0	17546	838	29	0	3980	0	YLPM1	14	75265962	Frame_Shift_Del	DEL	CA	TCGA-S9-A7QZ-01A-12D-A34J-08	15467952	75265962	32083578	65	35675											
RTF1	23168	broad.mit.edu	37	15	41749919	41749920	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr15:41749919_41749920delAG	ENST00000389629.4	+	4	519_520	c.507_508delAG	c.(505-510)tcagacfs	p.D170fs		NM_015138.4	NP_055953.3	Q92541	RTF1_HUMAN	Rtf1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)	170	Ser-rich.				histone modification|regulation of transcription, DNA-dependent|transcription initiation, DNA-dependent	nucleoplasm	protein binding|single-stranded DNA binding			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)	18		all_cancers(109;1.79e-19)|all_epithelial(112;8.18e-17)|Lung NSC(122;3.16e-11)|all_lung(180;8.14e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)		OV - Ovarian serous cystadenocarcinoma(18;1.15e-16)|GBM - Glioblastoma multiforme(113;1.81e-06)|BRCA - Breast invasive adenocarcinoma(123;0.119)		GTTCAGATTCAGACTCTTCCTC	0.485													54	157	---	---	---	---						-	41749920	AG	-	41749919	7	5	448	1	0	1	0	1	0	0	0	0	13773	175	7	0	521	0	RTF1	15	41749919	Frame_Shift_Del	DEL	AG	TCGA-S9-A7QZ-01A-12D-A34J-08		41749919	60781473	66	35676											
MGA	23269	broad.mit.edu	37	15	42005362	42005362	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr15:42005362C>T	ENST00000219905.7	+	9	3279	c.3098C>T	c.(3097-3099)aCt>aTt	p.T1033I	MGA_ENST00000566586.1_Missense_Mutation_p.T1033I|MGA_ENST00000570161.1_Missense_Mutation_p.T1033I|MGA_ENST00000545763.1_Missense_Mutation_p.T1033I|MGA_ENST00000389936.4_Missense_Mutation_p.T1033I	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN	MGA, MAX dimerization protein	1033						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		TCCCTCAAAACTAAACCTATC	0.448													27	122					0	0	1	0	0	T	42005362	C	T	42005362	3	4	448	1	0	0	0	0	1	0	0	0	9590	565	20	2	3128	2	MGA	15	42005362	Missense_Mutation	SNP	C	TCGA-S9-A7QZ-01A-12D-A34J-08	255443	42005362	60526030	67	35677											
TPM1	7168	broad.mit.edu	37	15	63335041	63335043	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr15:63335041_63335043delAAG	ENST00000357980.4	+	1	92_94	c.13_15delAAG	c.(13-15)aagdel	p.K7del	TPM1_ENST00000559556.1_In_Frame_Del_p.K7del|TPM1_ENST00000560445.1_In_Frame_Del_p.K7del|TPM1_ENST00000559397.1_In_Frame_Del_p.K7del|TPM1_ENST00000267996.7_In_Frame_Del_p.K7del|TPM1_ENST00000358278.3_In_Frame_Del_p.K7del|TPM1_ENST00000403994.3_In_Frame_Del_p.K7del|TPM1_ENST00000288398.6_In_Frame_Del_p.K7del			P09493	TPM1_HUMAN	tropomyosin 1 (alpha)	7					cardiac muscle contraction|cellular component movement|cellular response to reactive oxygen species|muscle filament sliding|negative regulation of cell migration|positive regulation of ATPase activity|positive regulation of cell adhesion|positive regulation of heart rate by epinephrine|positive regulation of stress fiber assembly|regulation of muscle contraction|ruffle organization|sarcomere organization|ventricular cardiac muscle tissue morphogenesis|wound healing	bleb|cytosol|muscle thin filament tropomyosin|ruffle membrane|stress fiber	actin binding|structural constituent of cytoskeleton|structural constituent of muscle			endometrium(1)|large_intestine(1)|lung(2)	4						GGACGCCATCAAGAAGAAGATGC	0.69													7	35	---	---	---	---						-	63335043	AAG	-	63335041	7	5	448	1	0	1	0	1	0	0	0	0	16466	131	5	0	15	0	TPM1	15	63335041	In_Frame_Del	DEL	AAG	TCGA-S9-A7QZ-01A-12D-A34J-08	21329679	63335041	39196351	68	35678											
C15orf39	56905	broad.mit.edu	37	15	75498581	75498581	+	Silent	SNP	G	G	A			TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr15:75498581G>A	ENST00000360639.2	+	2	512	c.192G>A	c.(190-192)gcG>gcA	p.A64A	C15orf39_ENST00000567617.1_Silent_p.A64A|C15orf39_ENST00000394987.4_Silent_p.A64A			Q6ZRI6	CO039_HUMAN	chromosome 15 open reading frame 39	64								p.A64A(1)		autonomic_ganglia(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16						AGCAGTTGGCGTCCTGGACCC	0.597													7	33					0	0	1	0	0	A	75498581	G	A	75498581	2	1	448	1	0	0	0	0	0	0	0	1	1799	1132	40	1		1	C15orf39	15	75498581	Silent	SNP	G	TCGA-S9-A7QZ-01A-12D-A34J-08	12163540	75498581	27032811	69	35679											
ADCY9	115	broad.mit.edu	37	16	4164385	4164387	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr16:4164385_4164387delCTC	ENST00000294016.3	-	2	1595_1597	c.1057_1059delGAG	c.(1057-1059)gagdel	p.E353del		NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	353					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						AATTCTCACTCTCCTCATCTCCC	0.478													44	128	---	---	---	---						-	4164387	CTC	-	4164385	7	5	448	1	0	1	0	1	0	0	0	0	300	912	32	0	3042	0	ADCY9	16	4164385	In_Frame_Del	DEL	CTC	TCGA-S9-A7QZ-01A-12D-A34J-08		4164385	86190368	70	35680											
TXNDC11	51061	broad.mit.edu	37	16	11773509	11773512	+	Frame_Shift_Del	DEL	TCTC	TCTC	-			TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr16:11773509_11773512delTCTC	ENST00000356957.3	-	13	2604_2607	c.2497_2500delGAGA	c.(2497-2502)gagatcfs	p.EI833fs	TXNDC11_ENST00000283033.5_Frame_Shift_Del_p.EI806fs|TXNDC11_ENST00000570917.1_5'UTR			Q6PKC3	TXD11_HUMAN	thioredoxin domain containing 11	833					cell redox homeostasis	endoplasmic reticulum membrane|integral to membrane				endometrium(3)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						AGTTTCTGGATCTCTCTCTCCAAG	0.588													16	77	---	---	---	---						-	11773512	TCTC	-	11773509	7	5	448	1	0	1	0	1	0	0	0	0	16854	1435	50	0	461	0	TXNDC11	16	11773509	Frame_Shift_Del	DEL	TCTC	TCGA-S9-A7QZ-01A-12D-A34J-08	7609124	11773509	78581244	71	35681											
RRAD	6236	broad.mit.edu	37	16	66956055	66956055	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr16:66956055C>T	ENST00000299759.6	-	5	1101	c.851G>A	c.(850-852)cGc>cAc	p.R284H	RRAD_ENST00000420652.1_Missense_Mutation_p.R284H			P55042	RAD_HUMAN	Ras-related associated with diabetes	284	Calmodulin-binding.				small GTPase mediated signal transduction	plasma membrane	calmodulin binding|GTP binding|GTPase activity			endometrium(2)|kidney(4)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|urinary_tract(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0862)|Epithelial(162;0.198)		AGCTACGATGCGGCCCAAGAA	0.612													4	53					0	0	1	0	0	T	66956055	C	T	66956055	3	4	448	1	0	0	0	0	1	0	0	0	13723	768	27	1	79	1	RRAD	16	66956055	Missense_Mutation	SNP	C	TCGA-S9-A7QZ-01A-12D-A34J-08	55182546	66956055	23398698	72	35682											
MYO1C	4641	broad.mit.edu	37	17	1384090	1384090	+	Silent	SNP	G	G	T			TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr17:1384090G>T	ENST00000359786.5	-	6	1041	c.717C>A	c.(715-717)atC>atA	p.I239I	MYO1C_ENST00000573198.1_5'UTR|MYO1C_ENST00000361007.2_Silent_p.I204I|MYO1C_ENST00000575158.1_Silent_p.I204I|MYO1C_ENST00000438665.2_Silent_p.I220I|MYO1C_ENST00000545534.2_Silent_p.I215I	NM_001080779.1	NP_001074248.1	O00159	MYO1C_HUMAN	myosin IC	239	Myosin head-like.				mRNA transport|protein transport|transmembrane transport	basal plasma membrane|cytoplasm|filamentous actin|lateral plasma membrane|nuclear pore|nucleolus|nucleoplasm|stereocilium membrane	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	17				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		GCTGGTAGAAGATGTGGAAGT	0.607													29	79					2.65835e-16	2.77563e-16	1	1	0	T	1384090	G	T	1384090	2	4	448	1	0	0	0	0	0	0	0	1	10118	932	33	4		4	MYO1C	17	1384090	Silent	SNP	G	TCGA-S9-A7QZ-01A-12D-A34J-08		1384090	79811120	73	35683											
EIF4A1	1973	broad.mit.edu	37	17	7476160	7476160	+	Translation_Start_Site	SNP	A	A	C			TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr17:7476160A>C	ENST00000293831.8	+	1	17	c.1A>C	c.(1-3)Atg>Ctg	p.M1L	SENP3-EIF4A1_ENST00000579777.1_RNA|EIF4A1_ENST00000577269.1_Start_Codon_SNP_p.M1L|EIF4A1_ENST00000380512.5_5'UTR|EIF4A1_ENST00000582746.1_Start_Codon_SNP_p.M1L	NM_001416.3	NP_001407.1	P60842	IF4A1_HUMAN	eukaryotic translation initiation factor 4A1	1					nuclear-transcribed mRNA poly(A) tail shortening	cytosol|eukaryotic translation initiation factor 4F complex	ATP binding|ATP-dependent helicase activity|mRNA binding|protein binding|RNA cap binding|translation initiation factor activity			NS(1)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	22						TCTAAGGATCATGTCTGCGAG	0.627													29	211					0	0	1	0	0	C	7476160	A	C	7476160	1	2	448	1	0	0	0	0	0	0	0	0	5052	217	8	4		4	EIF4A1	17	7476160	Translation_Start_Site	SNP	A	TCGA-S9-A7QZ-01A-12D-A34J-08	6092070	7476160	73719050	74	35684											
TP53	7157	broad.mit.edu	37	17	7578275	7578277	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr17:7578275_7578277delGAG	ENST00000420246.2	-	6	704_706	c.572_574delCTC	c.(571-576)cctcag>cag	p.P191del	TP53_ENST00000359597.4_In_Frame_Del_p.P191del|TP53_ENST00000413465.2_In_Frame_Del_p.P191del|TP53_ENST00000574684.1_Intron|TP53_ENST00000455263.2_In_Frame_Del_p.P191del|TP53_ENST00000445888.2_In_Frame_Del_p.P191del|TP53_ENST00000269305.4_In_Frame_Del_p.P191del	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	191	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		P -> H (in sporadic cancers; somatic mutation).|P -> L (in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> S (in sporadic cancers; somatic mutation).|P -> T (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.Q192*(83)|p.0?(8)|p.P191del(7)|p.Q99*(6)|p.?(6)|p.Q60*(6)|p.P191delP(4)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.P191fs*53(2)|p.P191L(2)|p.P191R(2)|p.G187fs*16(2)|p.P59delP(2)|p.P98delP(2)|p.P191fs*56(1)|p.P191fs*6(1)|p.A189_Q192>E(1)|p.P59_E66>Q(1)|p.P191fs*15(1)|p.P191H(1)|p.P191P(1)|p.P191_Q192delPQ(1)|p.D186_P191delDGLAPP(1)|p.Q192K(1)|p.P98_E105>Q(1)|p.A189fs*53(1)|p.Q192fs*56(1)|p.Q192del(1)|p.Q192fs*16(1)|p.L188_P191del(1)|p.Q192fs*30(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)		ATAAGATGCTGAGGAGGGGCCAG	0.557		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)			11	60	---	---	---	---						-	7578277	GAG	-	7578275	7	5	448	1	0	1	0	1	0	0	0	0	16442	1299	45	0	720	0	TP53	17	7578275	In_Frame_Del	DEL	GAG	TCGA-S9-A7QZ-01A-12D-A34J-08	102115	7578275	73616935	75	35685											
B9D1	27077	broad.mit.edu	37	17	19251097	19251097	+	Splice_Site	SNP	C	C	T			TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr17:19251097C>T	ENST00000477478.2	-	4	601	c.268G>A	c.(268-270)Ggc>Agc	p.G90S	B9D1_ENST00000395616.3_Splice_Site_p.R114Q|B9D1_ENST00000268841.6_Splice_Site_p.R114Q|B9D1_ENST00000575403.1_Splice_Site_p.G90S|B9D1_ENST00000395615.1_Splice_Site_p.R114Q|B9D1_ENST00000461069.2_Splice_Site_p.R114Q|B9D1_ENST00000261499.4_Splice_Site_p.R114Q			Q9UPM9	B9D1_HUMAN	B9 protein domain 1	0	B9.				cilium assembly	centrosome|microtubule basal body	protein binding			large_intestine(3)|urinary_tract(1)	4	all_cancers(12;2.04e-05)|all_epithelial(12;0.000806)|Hepatocellular(7;0.00345)|Breast(13;0.143)					GAGGACCTACCGGCCAGGTGA	0.587													8	32					0	0	1	0	0	T	19251097	C	T	19251097	5	4	448	1	0	0	0	0	0	0	1	0	1275	666	23	1	289	1	B9D1	17	19251097	Splice_Site	SNP	C	TCGA-S9-A7QZ-01A-12D-A34J-08	11672822	19251097	61944113	76	35686											
RNF43	54894	broad.mit.edu	37	17	56440939	56440939	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr17:56440939C>T	ENST00000584437.1	-	3	2353	c.398G>A	c.(397-399)gGa>gAa	p.G133E	RNF43_ENST00000500597.2_Missense_Mutation_p.G92E|RNF43_ENST00000577716.1_Missense_Mutation_p.G133E|RNF43_ENST00000577625.1_Missense_Mutation_p.G6E|BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000407977.2_Missense_Mutation_p.G133E|RNF43_ENST00000581868.1_Missense_Mutation_p.G6E|RNF43_ENST00000583753.1_Missense_Mutation_p.G92E			Q68DV7	RNF43_HUMAN	ring finger protein 43	133						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)					AGCACTGGCTCCTCGCTCACC	0.612													6	133					0	0	1	0	0	T	56440939	C	T	56440939	3	4	448	1	0	0	0	0	1	0	0	0	13547	855	30	2	1981	2	RNF43	17	56440939	Missense_Mutation	SNP	C	TCGA-S9-A7QZ-01A-12D-A34J-08	37189842	56440939	24754271	77	35687											
SCN4A	6329	broad.mit.edu	37	17	62045570	62045570	+	Nonsense_Mutation	SNP	C	C	T			TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr17:62045570C>T	ENST00000578147.1	-	6	925	c.849G>A	c.(847-849)tgG>tgA	p.W283*	SCN4A_ENST00000435607.1_Nonsense_Mutation_p.W283*			P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	283					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	ACGGCGGGGGCCAGCGCACAC	0.547													6	140					0	0	1	0	0	T	62045570	C	T	62045570	4	4	448	1	0	0	0	0	0	1	0	0	13974	740	26	2	4737	2	SCN4A	17	62045570	Nonsense_Mutation	SNP	C	TCGA-S9-A7QZ-01A-12D-A34J-08	5604631	62045570	19149640	78	35688											
CEP192	55125	broad.mit.edu	37	18	13095576	13095578	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr18:13095576_13095578delCTC	ENST00000506447.1	+	35	6409_6411	c.6329_6331delCTC	c.(6328-6333)tctcct>tct	p.P2111del	CEP192_ENST00000540847.2_3'UTR|CEP192_ENST00000430049.2_In_Frame_Del_p.P1636del|CEP192_ENST00000325971.8_In_Frame_Del_p.P1515del	NM_032142.3	NP_115518.3	B7ZMF0	B7ZMF0_HUMAN	centrosomal protein 192kDa	1706										NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						CCTCAGGGTTCTCCTCTTCTCTC	0.512													36	182	---	---	---	---						-	13095578	CTC	-	13095576	7	5	448	1	0	1	0	1	0	0	0	0	3273	913	32	0	6463	0	CEP192	18	13095576	In_Frame_Del	DEL	CTC	TCGA-S9-A7QZ-01A-12D-A34J-08		13095576	64981672	79	35689											
MIER2	54531	broad.mit.edu	37	19	307470	307470	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr19:307470G>A	ENST00000264819.4	-	13	1275	c.1265C>T	c.(1264-1266)cCg>cTg	p.P422L		NM_017550.1	NP_060020.1	Q8N344	MIER2_HUMAN	mesoderm induction early response 1, family member 2	422					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.P422L(1)		endometrium(4)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(10;1.05e-30)|all_epithelial(18;3.04e-19)|Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;2.49e-05)|all_lung(49;4.36e-05)|Breast(49;0.000304)		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)		CTCCGAGGACGGGAGTCCATC	0.662													4	11					0	0	1	0	0	A	307470	G	A	307470	3	1	448	1	0	0	0	0	1	0	0	0	9629	1116	39	1	380	1	MIER2	19	307470	Missense_Mutation	SNP	G	TCGA-S9-A7QZ-01A-12D-A34J-08		307470	58821513	80	35690											
ATP8B3	148229	broad.mit.edu	37	19	1791999	1791999	+	Missense_Mutation	SNP	C	C	G			TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr19:1791999C>G	ENST00000539485.1	-	19	2424	c.2191G>C	c.(2191-2193)Gtg>Ctg	p.V731L	ATP8B3_ENST00000310127.6_Splice_Site|ATP8B3_ENST00000525591.1_Missense_Mutation_p.V684L			O60423	AT8B3_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 3	730					ATP biosynthetic process		ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23		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)		TCGTTGTACACCTGTTGCAGG	0.687													5	7					0	0	1	0	0	G	1791999	C	G	1791999	3	3	448	1	0	0	0	0	1	0	0	0	1194	521	18	5	1785	5	ATP8B3	19	1791999	Missense_Mutation	SNP	C	TCGA-S9-A7QZ-01A-12D-A34J-08	1484529	1791999	57336984	81	35691											
AP3D1	8943	broad.mit.edu	37	19	2111786	2111788	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr19:2111786_2111788delCTT	ENST00000355272.6	-	25	3033_3035	c.2827_2829delAAG	c.(2827-2829)aagdel	p.K943del	AP3D1_ENST00000356926.4_In_Frame_Del_p.K840del|AP3D1_ENST00000345016.5_In_Frame_Del_p.K881del|AP3D1_ENST00000350812.6_In_Frame_Del_p.K712del	NM_001261826.1	NP_001248755.1	O14617	AP3D1_HUMAN	adaptor-related protein complex 3, delta 1 subunit	883					eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport	endosome membrane|Golgi membrane|membrane coat	binding|protein transporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(23)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		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)		tccgctcctccttctccttcctg	0.616													12	24	---	---	---	---						-	2111788	CTT	-	2111786	7	5	448	1	0	1	0	1	0	0	0	0	742	680	24	0	850	0	AP3D1	19	2111786	In_Frame_Del	DEL	CTT	TCGA-S9-A7QZ-01A-12D-A34J-08	319787	2111786	57017197	82	35692											
TNFSF14	8740	broad.mit.edu	37	19	6665024	6665024	+	Silent	SNP	C	C	T			TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr19:6665024C>T	ENST00000326176.9	-	5	909	c.528G>A	c.(526-528)ggG>ggA	p.G176G	TNFSF14_ENST00000245912.3_Silent_p.G176G|TNFSF14_ENST00000599359.1_Silent_p.G212G	NM_003807.3|NM_172014.2	NP_003798.2|NP_742011.2	O43557	TNF14_HUMAN	tumor necrosis factor (ligand) superfamily, member 14	212					cellular response to mechanical stimulus|immune response|induction of apoptosis|release of cytoplasmic sequestered NF-kappaB|T cell homeostasis|T cell proliferation	cytoplasm|extracellular space|integral to membrane|plasma membrane	caspase inhibitor activity|cytokine activity|tumor necrosis factor receptor binding			breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18						CCACCTTCTCCCCAGCCTCCA	0.627													6	85					0	0	1	0	0	T	6665024	C	T	6665024	2	4	448	1	0	0	0	0	0	0	0	1	16367	610	22	2		2	TNFSF14	19	6665024	Silent	SNP	C	TCGA-S9-A7QZ-01A-12D-A34J-08	4553238	6665024	52463959	83	35693											
OR10H1	26539	broad.mit.edu	37	19	15918425	15918425	+	Silent	SNP	G	G	A			TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr19:15918425G>A	ENST00000334920.2	-	1	511	c.423C>T	c.(421-423)tgC>tgT	p.C141C		NM_013940.2	NP_039228.1	Q9Y4A9	O10H1_HUMAN	olfactory receptor, family 10, subfamily H, member 1	141					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|skin(2)|urinary_tract(1)	29						CCAGGCAGGCGCAGCCCCGCG	0.647													10	94					0	0	1	0	0	A	15918425	G	A	15918425	2	1	448	1	0	0	0	0	0	0	0	1	10953	1079	38	1		1	OR10H1	19	15918425	Silent	SNP	G	TCGA-S9-A7QZ-01A-12D-A34J-08	9253401	15918425	43210558	84	35694											
CYP4F11	57834	broad.mit.edu	37	19	16038092	16038092	+	Translation_Start_Site	SNP	G	G	A	rs145564844	byFrequency	TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr19:16038092G>A	ENST00000591841.1	-	0	739				CYP4F11_ENST00000248041.8_Missense_Mutation_p.T152M|CYP4F11_ENST00000402119.4_Missense_Mutation_p.T152M|CYP4F11_ENST00000326742.8_Missense_Mutation_p.T152M			Q9HBI6	CP4FB_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 11						inflammatory response|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3)	25						GAAGGCAGGCGTCAACATCCG	0.552													15	133					0	0	1	0	0	A	16038092	G	A	16038092	1	1	448	1	0	0	0	0	0	0	0	0	4209	1145	40	1		1	CYP4F11	19	16038092	Translation_Start_Site	SNP	G	TCGA-S9-A7QZ-01A-12D-A34J-08	119667	16038092	43090891	85	35695											
UBA2	10054	broad.mit.edu	37	19	34957913	34957913	+	Missense_Mutation	SNP	T	T	A			TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr19:34957913T>A	ENST00000439527.2	+	16	1945	c.1447T>A	c.(1447-1449)Tcc>Acc	p.S483T	UBA2_ENST00000246548.4_Missense_Mutation_p.S579T|UBA2_ENST00000592791.1_Missense_Mutation_p.S105T			Q9UBT2	SAE2_HUMAN	ubiquitin-like modifier activating enzyme 2	579					protein sumoylation	nucleus	ATP binding|enzyme activator activity|ligase activity|metal ion binding|protein heterodimerization activity|SUMO activating enzyme activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	20	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)			GCCCTCCACCTCCACAGGTGA	0.463													3	27					0	0	1	0	0	A	34957913	T	A	34957913	3	1	448	1	0	0	0	0	1	0	0	0	16889	1551	54	5	1797	5	UBA2	19	34957913	Missense_Mutation	SNP	T	TCGA-S9-A7QZ-01A-12D-A34J-08	18919821	34957913	24171070	86	35696											
CIC	23152	broad.mit.edu	37	19	42796461	42796462	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr19:42796461_42796462delTG	ENST00000572681.2	+	14	5813_5814	c.5745_5746delTG	c.(5743-5748)tatgtgfs	p.V1916fs	CIC_ENST00000575354.2_Frame_Shift_Del_p.V1007fs|CIC_ENST00000160740.3_Frame_Shift_Del_p.V1007fs			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	1007					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	p.V1007fs*28(1)		autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				GAATCACCTATGTGCAGTCAGC	0.649			"Mis, F, S"		oligodendroglioma								36	48	---	---	---	---						-	42796462	TG	-	42796461	7	5	448	1	0	1	0	1	0	0	0	0	3446	1471	51	0	3068	0	CIC	19	42796461	Frame_Shift_Del	DEL	TG	TCGA-S9-A7QZ-01A-12D-A34J-08	7838548	42796461	16332522	87	35697											
ZNF468	90333	broad.mit.edu	37	19	53345269	53345272	+	Frame_Shift_Del	DEL	TCTT	TCTT	-			TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr19:53345269_53345272delTCTT	ENST00000595646.1	-	4	395_398	c.275_278delAAGA	c.(274-279)aaagacfs	p.KD92fs	ZNF468_ENST00000396409.4_Frame_Shift_Del_p.KD39fs|ZNF28_ENST00000594602.1_Intron|ZNF468_ENST00000243639.4_3'UTR|ZNF468_ENST00000390651.4_Frame_Shift_Del_p.KD39fs			Q5VIY5	ZN468_HUMAN	zinc finger protein 468	92					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(3)|urinary_tract(1)	23				GBM - Glioblastoma multiforme(134;0.0358)		GCCATGAATGTCTTTCTCAATTTC	0.436													19	173	---	---	---	---						-	53345272	TCTT	-	53345269	7	5	448	1	0	1	0	1	0	0	0	0	17985	1667	58	0	1294	0	ZNF468	19	53345269	Frame_Shift_Del	DEL	TCTT	TCGA-S9-A7QZ-01A-12D-A34J-08	10548808	53345269	5783714	88	35698											
NCOA5	57727	broad.mit.edu	37	20	44691371	44691373	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr20:44691371_44691373delGAG	ENST00000290231.6	-	8	1470_1472	c.1306_1308delCTC	c.(1306-1308)ctcdel	p.L436del		NM_020967.2	NP_066018.1	Q9HCD5	NCOA5_HUMAN	nuclear receptor coactivator 5	436					regulation of transcription, DNA-dependent|transcription, DNA-dependent|translation	nucleus	aminoacyl-tRNA ligase activity|ATP binding			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|skin(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.0122)				TGAAGAGGCTGAGGATTTTGGCC	0.586													9	202	---	---	---	---						-	44691373	GAG	-	44691371	7	5	448	1	0	1	0	1	0	0	0	0	10279	1277	45	0	435	0	NCOA5	20	44691371	In_Frame_Del	DEL	GAG	TCGA-S9-A7QZ-01A-12D-A34J-08		44691371	18334149	89	35699											
MKL1	57591	broad.mit.edu	37	22	40807847	40807848	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr22:40807847_40807848delTG	ENST00000396617.3	-	15	2942_2943	c.2352_2353delCA	c.(2350-2355)gacagtfs	p.DS784fs	MKL1_ENST00000355630.3_Frame_Shift_Del_p.T781fs|MKL1_ENST00000407029.1_Frame_Shift_Del_p.T781fs|MKL1_ENST00000402042.1_Frame_Shift_Del_p.T731fs	NM_001282662.1	NP_001269591.1	Q969V6	MKL1_HUMAN	megakaryoblastic leukemia (translocation) 1	0	Pro-rich.				positive regulation of transcription from RNA polymerase II promoter|smooth muscle cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	actin monomer binding|leucine zipper domain binding|nucleic acid binding|transcription coactivator activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						ACCCACAGACTGTCTTCGGGGA	0.589			T	RBM15	acute megakaryocytic leukemia								10	292	---	---	---	---						-	40807848	TG	-	40807847	7	5	448	1	0	1	0	1	0	0	0	0	9649	1567	55	0	456	0	MKL1	22	40807847	Frame_Shift_Del	DEL	TG	TCGA-S9-A7QZ-01A-12D-A34J-08		40807847	10496719	90	35700											
LAMP2	3920	broad.mit.edu	37	X	119580172	119580173	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chrX:119580172_119580173delAA	ENST00000371335.4	-	6	987_988	c.851_852delTT	c.(850-852)tttfs	p.F284fs	LAMP2_ENST00000540603.1_Frame_Shift_Del_p.F237fs|LAMP2_ENST00000434600.2_Frame_Shift_Del_p.F284fs|LAMP2_ENST00000200639.4_Frame_Shift_Del_p.F284fs|LAMP2_ENST00000538785.1_Frame_Shift_Del_p.F173fs	NM_013995.2	NP_054701.1	P13473	LAMP2_HUMAN	lysosomal-associated membrane protein 2	284	Second lumenal domain.				platelet activation|platelet degranulation	endosome membrane|integral to membrane|late endosome|lysosomal membrane|membrane fraction|plasma membrane|platelet dense granule membrane				endometrium(4)|large_intestine(2)|lung(5)|ovary(2)|urinary_tract(2)	15						CAGCAAAGACAAAGTCTAGATA	0.411													19	103	---	---	---	---						-	119580173	AA	-	119580172	7	5	448	1	0	1	0	1	0	0	0	0	8657	127	5	0	687	0	LAMP2	23	119580172	Frame_Shift_Del	DEL	AA	TCGA-S9-A7QZ-01A-12D-A34J-08		119580172	35690388	91	35701											
ACTRT1	139741	broad.mit.edu	37	X	127185177	127185180	+	Frame_Shift_Del	DEL	ATCT	ATCT	-			TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chrX:127185177_127185180delATCT	ENST00000371124.3	-	1	1202_1205	c.1006_1009delAGAT	c.(1006-1011)agatgcfs	p.RC336fs		NM_138289.3	NP_612146.1	Q8TDG2	ACTT1_HUMAN	actin-related protein T1	336						cytoplasm|cytoskeleton				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	34						GCAGAGAAGCATCTATCAGGAGAA	0.52													27	44	---	---	---	---						-	127185180	ATCT	-	127185177	7	5	448	1	0	1	0	1	0	0	0	0	217	217	8	0	125	0	ACTRT1	23	127185177	Frame_Shift_Del	DEL	ATCT	TCGA-S9-A7QZ-01A-12D-A34J-08	7605005	127185177	28085383	92	35702											
KIAA1522	57648	broad.mit.edu	37	1	33235952	33235952	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7R1-01A-12D-A34J-08	TCGA-S9-A7R1-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f8e448f-42f5-4726-8381-26b02990f188	943aa030-fbfc-48ce-a854-5f16cdea9290	g.chr1:33235952G>A	ENST00000401073.2	+	6	1242	c.1172G>A	c.(1171-1173)cGc>cAc	p.R391H	KIAA1522_ENST00000373481.3_Missense_Mutation_p.R343H|KIAA1522_ENST00000373480.1_Missense_Mutation_p.R332H|KIAA1522_ENST00000294521.3_Intron	NM_020888.2	NP_065939.2	Q9P206	K1522_HUMAN	KIAA1522	332	Ser-rich.									breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				GCCTCAGTCCGCTCGCTGGGG	0.692													3	13					0	0	1	0	0	A	33235952	G	A	33235952	3	1	449	1	0	0	0	0	1	0	0	0	8280	1087	38	1	1194	1	KIAA1522	1	33235952	Missense_Mutation	SNP	G	TCGA-S9-A7R1-01A-12D-A34J-08		33235952	216014669	1	35703											
GDAP2	54834	broad.mit.edu	37	1	118413222	118413222	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A7R1-01A-12D-A34J-08	TCGA-S9-A7R1-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f8e448f-42f5-4726-8381-26b02990f188	943aa030-fbfc-48ce-a854-5f16cdea9290	g.chr1:118413222T>C	ENST00000369443.5	-	14	1712	c.1463A>G	c.(1462-1464)tAt>tGt	p.Y488C		NM_017686.3	NP_060156.1	Q9NXN4	GDAP2_HUMAN	ganglioside induced differentiation associated protein 2											kidney(2)|large_intestine(3)|lung(9)|ovary(2)	16		all_cancers(81;0.0156)|all_lung(203;5.81e-05)|Lung NSC(69;0.000446)|all_epithelial(167;0.00295)		Lung(183;0.0583)|LUSC - Lung squamous cell carcinoma(189;0.194)		ATATGATGTATAGTAAGGCCC	0.408													7	42					0	0	1	0	0	C	118413222	T	C	118413222	3	2	449	1	0	0	0	0	1	0	0	0	6350	1406	49	3	34	3	GDAP2	1	118413222	Missense_Mutation	SNP	T	TCGA-S9-A7R1-01A-12D-A34J-08	85177270	118413222	130837399	2	35704											
FCRL3	115352	broad.mit.edu	37	1	157665283	157665283	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A7R1-01A-12D-A34J-08	TCGA-S9-A7R1-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f8e448f-42f5-4726-8381-26b02990f188	943aa030-fbfc-48ce-a854-5f16cdea9290	g.chr1:157665283C>T	ENST00000368184.3	-	8	1538	c.1247G>A	c.(1246-1248)cGa>cAa	p.R416Q	FCRL3_ENST00000473231.1_5'UTR|FCRL3_ENST00000368186.5_Missense_Mutation_p.R416Q|RP11-367J7.3_ENST00000453692.1_RNA	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN	Fc receptor-like 3	416	Ig-like C2-type 5.					integral to membrane|plasma membrane	receptor activity			autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					ATGATAAAATCGGTACAGGAT	0.587													5	152					0	0	1	0	0	T	157665283	C	T	157665283	3	4	449	1	0	0	0	0	1	0	0	0	5829	884	31	1	989	1	FCRL3	1	157665283	Missense_Mutation	SNP	C	TCGA-S9-A7R1-01A-12D-A34J-08	39252061	157665283	91585338	3	35705											
IL1R1	3554	broad.mit.edu	37	2	102782633	102782633	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7R1-01A-12D-A34J-08	TCGA-S9-A7R1-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f8e448f-42f5-4726-8381-26b02990f188	943aa030-fbfc-48ce-a854-5f16cdea9290	g.chr2:102782633G>A	ENST00000410023.1	+	6	865	c.547G>A	c.(547-549)Gtg>Atg	p.V183M	IL1R1_ENST00000233946.3_Missense_Mutation_p.V183M|IL1R1_ENST00000409929.1_Missense_Mutation_p.V183M|IL1R1_ENST00000409589.1_Intron|IL1R1_ENST00000424272.1_Missense_Mutation_p.V183M|IL1R1_ENST00000409288.1_Missense_Mutation_p.V183M|IL1R1_ENST00000409329.1_Missense_Mutation_p.V183M			P14778	IL1R1_HUMAN	interleukin 1 receptor, type I	183	Ig-like C2-type 2.				innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity|platelet-derived growth factor receptor binding			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(2)|skin(3)	19					Anakinra(DB00026)	TAGGCTCATCGTGATGAATGT	0.388													52	43					0	0	1	0	0	A	102782633	G	A	102782633	3	1	449	1	0	0	0	0	1	0	0	0	7702	1145	40	1	561	1	IL1R1	2	102782633	Missense_Mutation	SNP	G	TCGA-S9-A7R1-01A-12D-A34J-08		102782633	140416740	4	35706											
LCT	3938	broad.mit.edu	37	2	136566483	136566483	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A7R1-01A-12D-A34J-08	TCGA-S9-A7R1-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f8e448f-42f5-4726-8381-26b02990f188	943aa030-fbfc-48ce-a854-5f16cdea9290	g.chr2:136566483C>T	ENST00000264162.2	-	8	3444	c.3434G>A	c.(3433-3435)cGa>cAa	p.R1145Q		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	1145	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		CTGCAGCATTCGGTCAGCGGC	0.562													4	97					0	0	1	0	0	T	136566483	C	T	136566483	3	4	449	1	0	0	0	0	1	0	0	0	8732	884	31	1	2389	1	LCT	2	136566483	Missense_Mutation	SNP	C	TCGA-S9-A7R1-01A-12D-A34J-08	33783850	136566483	106632890	5	35707											
HNMT	3176	broad.mit.edu	37	2	138722122	138722122	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A7R1-01A-12D-A34J-08	TCGA-S9-A7R1-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f8e448f-42f5-4726-8381-26b02990f188	943aa030-fbfc-48ce-a854-5f16cdea9290	g.chr2:138722122A>G	ENST00000280097.3	+	1	243	c.61A>G	c.(61-63)Agg>Ggg	p.R21G	HNMT_ENST00000485653.1_3'UTR|HNMT_ENST00000410115.1_Missense_Mutation_p.R21G|HNMT_ENST00000280096.5_Missense_Mutation_p.R21G|HNMT_ENST00000329366.4_Missense_Mutation_p.R21G	NM_006895.2	NP_008826.1	P50135	HNMT_HUMAN	histamine N-methyltransferase	21					respiratory gaseous exchange	cytoplasm	histamine N-methyltransferase activity			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.125)	Amodiaquine(DB00613)|Histamine Phosphate(DB00667)|Quinacrine(DB01103)	ATCTTTCCGGAGGTTTCTCAA	0.448													5	277					0	0	1	0	0	G	138722122	A	G	138722122	3	3	449	1	0	0	0	0	1	0	0	0	7296	295	11	3	63	3	HNMT	2	138722122	Missense_Mutation	SNP	A	TCGA-S9-A7R1-01A-12D-A34J-08	2155639	138722122	104477251	6	35708											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-S9-A7R1-01A-12D-A34J-08	TCGA-S9-A7R1-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f8e448f-42f5-4726-8381-26b02990f188	943aa030-fbfc-48ce-a854-5f16cdea9290	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								42	60					0	0	1	0	0	T	209113112	C	T	209113112	3	4	449	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-S9-A7R1-01A-12D-A34J-08	70390990	209113112	34086261	7	35709											
ZBTB11	27107	broad.mit.edu	37	3	101384637	101384637	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A7R1-01A-12D-A34J-08	TCGA-S9-A7R1-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f8e448f-42f5-4726-8381-26b02990f188	943aa030-fbfc-48ce-a854-5f16cdea9290	g.chr3:101384637C>T	ENST00000312938.4	-	4	1374	c.794G>A	c.(793-795)aGc>aAc	p.S265N		NM_014415.3	NP_055230.2	O95625	ZBT11_HUMAN	zinc finger and BTB domain containing 11	265	BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						AGGAAGGAAGCTGGCCTTACA	0.323													34	61					0	0	1	0	0	T	101384637	C	T	101384637	3	4	449	1	0	0	0	0	1	0	0	0	17583	797	28	2	2399	2	ZBTB11	3	101384637	Missense_Mutation	SNP	C	TCGA-S9-A7R1-01A-12D-A34J-08		101384637	96637793	8	35710											
ANXA5	308	broad.mit.edu	37	4	122602906	122602906	+	Missense_Mutation	SNP	G	G	T			TCGA-S9-A7R1-01A-12D-A34J-08	TCGA-S9-A7R1-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f8e448f-42f5-4726-8381-26b02990f188	943aa030-fbfc-48ce-a854-5f16cdea9290	g.chr4:122602906G>T	ENST00000296511.5	-	6	599	c.314C>A	c.(313-315)aCa>aAa	p.T105K	ANXA5_ENST00000509016.1_5'UTR|ANXA5_ENST00000515017.1_Intron|ANXA5_ENST00000501272.2_Missense_Mutation_p.T45K	NM_001154.3	NP_001145.1	P08758	ANXA5_HUMAN	annexin A5	105					anti-apoptosis|blood coagulation|negative regulation of coagulation|signal transduction	cytoplasm	calcium ion binding|calcium-dependent phospholipid binding|phospholipase inhibitor activity			NS(1)|breast(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)	15						TTTTTCATTTGTTCCAGCTCC	0.308													41	69					1.56793e-16	1.6103e-16	1	1	0	T	122602906	G	T	122602906	3	4	449	1	0	0	0	0	1	0	0	0	715	1377	48	5	680	5	ANXA5	4	122602906	Missense_Mutation	SNP	G	TCGA-S9-A7R1-01A-12D-A34J-08		122602906	68551370	9	35711											
ANKRD50	57182	broad.mit.edu	37	4	125590881	125590881	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A7R1-01A-12D-A34J-08	TCGA-S9-A7R1-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f8e448f-42f5-4726-8381-26b02990f188	943aa030-fbfc-48ce-a854-5f16cdea9290	g.chr4:125590881A>G	ENST00000504087.1	-	4	4588	c.3551T>C	c.(3550-3552)cTg>cCg	p.L1184P	ANKRD50_ENST00000515641.1_Missense_Mutation_p.L1005P	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	1184	Ser-rich.									NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						TGAGCTTTTCAGGGAATTATT	0.393													4	159					0	0	1	0	0	G	125590881	A	G	125590881	3	3	449	1	0	0	0	0	1	0	0	0	671	188	7	3	742	3	ANKRD50	4	125590881	Missense_Mutation	SNP	A	TCGA-S9-A7R1-01A-12D-A34J-08	2987975	125590881	65563395	10	35712											
PRLR	5618	broad.mit.edu	37	5	35065444	35065444	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7R1-01A-12D-A34J-08	TCGA-S9-A7R1-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f8e448f-42f5-4726-8381-26b02990f188	943aa030-fbfc-48ce-a854-5f16cdea9290	g.chr5:35065444G>A	ENST00000382002.5	-	10	2042	c.1616C>T	c.(1615-1617)aCt>aTt	p.T539I	PRLR_ENST00000342362.5_Missense_Mutation_p.T438I|PRLR_ENST00000513753.1_Intron|PRLR_ENST00000231423.3_Intron|PRLR_ENST00000348262.3_Intron|PRLR_ENST00000542609.1_Intron|PRLR_ENST00000310101.5_Silent_p.D348D|PRLR_ENST00000397391.3_Intron|PRLR_ENST00000511486.1_Missense_Mutation_p.T438I	NM_000949.5	NP_000940.1	P16471	PRLR_HUMAN	prolactin receptor	539					activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process|T cell activation	cell surface|extracellular region|integral to membrane	metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48	all_lung(31;3.83e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	GTTCTCAGGAGTCCCGGGCTT	0.483													5	129					0	0	1	0	0	A	35065444	G	A	35065444	3	1	449	1	0	0	0	0	1	0	0	0	12583	1029	36	2	256	2	PRLR	5	35065444	Missense_Mutation	SNP	G	TCGA-S9-A7R1-01A-12D-A34J-08		35065444	145849816	11	35713											
DDX56	54606	broad.mit.edu	37	7	44613434	44613434	+	Splice_Site	SNP	C	C	T			TCGA-S9-A7R1-01A-12D-A34J-08	TCGA-S9-A7R1-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f8e448f-42f5-4726-8381-26b02990f188	943aa030-fbfc-48ce-a854-5f16cdea9290	g.chr7:44613434C>T	ENST00000258772.5	-	1	167		c.e1+1		DDX56_ENST00000431640.1_Splice_Site	NM_001257189.1|NM_019082.3	NP_001244118.1|NP_061955.1	Q9NY93	DDX56_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 56						rRNA processing	nucleolus	ATP binding|ATP-dependent RNA helicase activity|identical protein binding|RNA binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(5)|upper_aerodigestive_tract(1)	16						CTCGCGTGTACCTGAAGGAGC	0.657													4	47					0	0	1	0	0	T	44613434	C	T	44613434	5	4	449	1	0	0	0	0	0	0	1	0	4397	521	18	2	1638	2	DDX56	7	44613434	Splice_Site	SNP	C	TCGA-S9-A7R1-01A-12D-A34J-08		44613434	114525229	12	35714											
KCND2	3751	broad.mit.edu	37	7	119914768	119914768	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A7R1-01A-12D-A34J-08	TCGA-S9-A7R1-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f8e448f-42f5-4726-8381-26b02990f188	943aa030-fbfc-48ce-a854-5f16cdea9290	g.chr7:119914768C>T	ENST00000331113.4	+	1	1047	c.82C>T	c.(82-84)Ccg>Tcg	p.P28S		NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	28					regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)					GGGGCCTATGCCGGCTCCCCC	0.632													6	396					0	0	1	0	0	T	119914768	C	T	119914768	3	4	449	1	0	0	0	0	1	0	0	0	8063	739	26	2	84	2	KCND2	7	119914768	Missense_Mutation	SNP	C	TCGA-S9-A7R1-01A-12D-A34J-08	75301334	119914768	39223895	13	35715											
ZNF786	136051	broad.mit.edu	37	7	148767777	148767777	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A7R1-01A-12D-A34J-08	TCGA-S9-A7R1-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f8e448f-42f5-4726-8381-26b02990f188	943aa030-fbfc-48ce-a854-5f16cdea9290	g.chr7:148767777C>T	ENST00000316286.9	-	3	2101	c.1829G>A	c.(1828-1830)gGc>gAc	p.G610D	ZNF786_ENST00000491431.1_Missense_Mutation_p.G696D|ZNF786_ENST00000451334.3_Missense_Mutation_p.G659D			Q8N393	ZN786_HUMAN	zinc finger protein 786	696					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(2)	26	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			TGTGTGCAGGCCCTGATGGCT	0.587													17	278					0	0	1	0	0	T	148767777	C	T	148767777	3	4	449	1	0	0	0	0	1	0	0	0	18207	739	26	2	265	2	ZNF786	7	148767777	Missense_Mutation	SNP	C	TCGA-S9-A7R1-01A-12D-A34J-08	28853009	148767777	10370886	14	35716											
TNKS	8658	broad.mit.edu	37	8	9563758	9563758	+	Missense_Mutation	SNP	C	C	G			TCGA-S9-A7R1-01A-12D-A34J-08	TCGA-S9-A7R1-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f8e448f-42f5-4726-8381-26b02990f188	943aa030-fbfc-48ce-a854-5f16cdea9290	g.chr8:9563758C>G	ENST00000310430.6	+	7	1290	c.1264C>G	c.(1264-1266)Cta>Gta	p.L422V	TNKS_ENST00000520408.1_Missense_Mutation_p.L422V|TNKS_ENST00000518281.1_Missense_Mutation_p.L185V|TNKS_ENST00000518027.1_3'UTR	NM_003747.2	NP_003738.2	O95271	TNKS1_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase	422					mitotic spindle organization|mRNA transport|negative regulation of DNA binding|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of telomere maintenance via telomerase|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein poly-ADP-ribosylation|protein polyubiquitination|protein transport|spindle assembly|transmembrane transport|Wnt receptor signaling pathway	chromosome, centromeric region|Golgi membrane|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material	NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding			NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	49				COAD - Colon adenocarcinoma(149;0.0467)		AGAACTGCTACTAAAGGTAAG	0.313													5	120					0	0	1	0	0	G	9563758	C	G	9563758	3	3	449	1	0	0	0	0	1	0	0	0	16379	564	20	4	1290	4	TNKS	8	9563758	Missense_Mutation	SNP	C	TCGA-S9-A7R1-01A-12D-A34J-08		9563758	136800264	15	35717											
NEFM	4741	broad.mit.edu	37	8	24772171	24772171	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7R1-01A-12D-A34J-08	TCGA-S9-A7R1-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f8e448f-42f5-4726-8381-26b02990f188	943aa030-fbfc-48ce-a854-5f16cdea9290	g.chr8:24772171G>A	ENST00000221166.5	+	1	1647	c.865G>A	c.(865-867)Gaa>Aaa	p.E289K	NEFM_ENST00000437366.2_Missense_Mutation_p.E289K|NEFM_ENST00000521540.1_3'UTR|NEFM_ENST00000518131.1_Missense_Mutation_p.E289K|GS1-72M22.1_ENST00000607058.1_RNA			P07197	NFM_HUMAN	neurofilament, medium polypeptide	289	Linker 2.|Rod.					neurofilament	protein binding|structural constituent of cytoskeleton			breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1)	36		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		GCACCAGGCCGAAGAGTGGTT	0.602													4	48					0	0	1	0	0	A	24772171	G	A	24772171	3	1	449	1	0	0	0	0	1	0	0	0	10363	1059	37	1	867	1	NEFM	8	24772171	Missense_Mutation	SNP	G	TCGA-S9-A7R1-01A-12D-A34J-08	15208413	24772171	121591851	16	35718											
CBWD3	445571	broad.mit.edu	37	9	70871889	70871889	+	Silent	SNP	C	C	T			TCGA-S9-A7R1-01A-12D-A34J-08	TCGA-S9-A7R1-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f8e448f-42f5-4726-8381-26b02990f188	943aa030-fbfc-48ce-a854-5f16cdea9290	g.chr9:70871889C>T	ENST00000360171.6	+	5	1034	c.483C>T	c.(481-483)taC>taT	p.Y161Y	CBWD3_ENST00000377342.5_Intron	NM_201453.2	NP_958861.2	Q5JTY5	CBWD3_HUMAN	COBW domain containing 3	161							ATP binding			kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5				all cancers(8;0.00136)|Epithelial(8;0.0288)|GBM - Glioblastoma multiforme(74;0.0402)|OV - Ovarian serous cystadenocarcinoma(323;0.18)		GTGATATTTACCTTGATGGTA	0.294													4	122					0	0	1	0	0	T	70871889	C	T	70871889	2	4	449	1	0	0	0	0	0	0	0	1	2732	518	18	2		2	CBWD3	9	70871889	Silent	SNP	C	TCGA-S9-A7R1-01A-12D-A34J-08		70871889	70341542	17	35719											
GALNT12	79695	broad.mit.edu	37	9	101608400	101608400	+	Nonsense_Mutation	SNP	C	C	T			TCGA-S9-A7R1-01A-12D-A34J-08	TCGA-S9-A7R1-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f8e448f-42f5-4726-8381-26b02990f188	943aa030-fbfc-48ce-a854-5f16cdea9290	g.chr9:101608400C>T	ENST00000375011.3	+	9	1600	c.1600C>T	c.(1600-1602)Cag>Tag	p.Q534*		NM_024642.4	NP_078918.3	Q8IXK2	GLT12_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 12 (GalNAc-T12)	534	Ricin B-type lectin.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(1)|endometrium(2)|large_intestine(3)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	17		Acute lymphoblastic leukemia(62;0.0559)				GTTCATCTTGCAGGAGGTAGG	0.527													10	69					0	0	1	0	0	T	101608400	C	T	101608400	4	4	449	1	0	0	0	0	0	1	0	0	6250	711	25	2	1634	2	GALNT12	9	101608400	Nonsense_Mutation	SNP	C	TCGA-S9-A7R1-01A-12D-A34J-08	30736511	101608400	39605031	18	35720											
HPS6	79803	broad.mit.edu	37	10	103825421	103825421	+	Frame_Shift_Del	DEL	G	G	-			TCGA-S9-A7R1-01A-12D-A34J-08	TCGA-S9-A7R1-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f8e448f-42f5-4726-8381-26b02990f188	943aa030-fbfc-48ce-a854-5f16cdea9290	g.chr10:103825421delG	ENST00000299238.5	+	1	275	c.190delG	c.(190-192)ggcfs	p.G64fs		NM_024747.5	NP_079023.2	Q86YV9	HPS6_HUMAN	Hermansky-Pudlak syndrome 6	64						cytosol|early endosome membrane|endoplasmic reticulum|microsome				endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)	11		Colorectal(252;0.122)		Epithelial(162;5.93e-08)|all cancers(201;1.03e-06)		GCGAGGGCCCGGCGCGGAGCT	0.761									Hermansky-Pudlak syndrome				2	4	---	---	---	---						-	103825421	G	-	103825421	7	5	449	1	0	1	0	1	0	0	0	0	7384	1116	39	0	192	0	HPS6	10	103825421	Frame_Shift_Del	DEL	G	TCGA-S9-A7R1-01A-12D-A34J-08		103825421	31709326	19	35721											
OR51E2	81285	broad.mit.edu	37	11	4703857	4703857	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7R1-01A-12D-A34J-08	TCGA-S9-A7R1-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f8e448f-42f5-4726-8381-26b02990f188	943aa030-fbfc-48ce-a854-5f16cdea9290	g.chr11:4703857G>A	ENST00000396950.3	-	2	324	c.85C>T	c.(85-87)Ccc>Tcc	p.P29S		NM_030774.3	NP_110401.1	Q9H255	O51E2_HUMAN	olfactory receptor, family 51, subfamily E, member 2	29					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(3)	23		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;3e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00476)|LUSC - Lung squamous cell carcinoma(625;0.2)		GAAAGGAGGGGGAAGCCAACC	0.498													22	45					0	0	1	0	0	A	4703857	G	A	4703857	3	1	449	1	0	0	0	0	1	0	0	0	11143	1232	43	2	881	2	OR51E2	11	4703857	Missense_Mutation	SNP	G	TCGA-S9-A7R1-01A-12D-A34J-08		4703857	130302659	20	35722											
FOLR1	2348	broad.mit.edu	37	11	71906326	71906326	+	Nonsense_Mutation	SNP	G	G	A			TCGA-S9-A7R1-01A-12D-A34J-08	TCGA-S9-A7R1-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f8e448f-42f5-4726-8381-26b02990f188	943aa030-fbfc-48ce-a854-5f16cdea9290	g.chr11:71906326G>A	ENST00000393679.1	+	3	616	c.180G>A	c.(178-180)tgG>tgA	p.W60*	FOLR1_ENST00000393676.3_Nonsense_Mutation_p.W60*|RP11-807H22.7_ENST00000378140.3_RNA|FOLR1_ENST00000393681.2_Nonsense_Mutation_p.W60*|FOLR1_ENST00000312293.4_Nonsense_Mutation_p.W60*			P15328	FOLR1_HUMAN	folate receptor 1 (adult)	60					cell death|folic acid transport|receptor-mediated endocytosis	anchored to membrane|extracellular region|integral to plasma membrane|membrane fraction	folic acid binding|receptor activity			cervix(2)|endometrium(1)|large_intestine(7)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	14						GTCGACCCTGGAGGAAGAATG	0.527													63	68					0	0	1	0	0	A	71906326	G	A	71906326	4	1	449	1	0	0	0	0	0	1	0	0	6014	1183	41	2	186	2	FOLR1	11	71906326	Nonsense_Mutation	SNP	G	TCGA-S9-A7R1-01A-12D-A34J-08	67202469	71906326	63100190	21	35723											
MTUS2	23281	broad.mit.edu	37	13	29855958	29855958	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7R1-01A-12D-A34J-08	TCGA-S9-A7R1-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f8e448f-42f5-4726-8381-26b02990f188	943aa030-fbfc-48ce-a854-5f16cdea9290	g.chr13:29855958G>A	ENST00000431530.3	+	4	2850	c.2792G>A	c.(2791-2793)cGc>cAc	p.R931H		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	921	Localization to the growing distal tip of microtubules.|Mediates interaction with MAPRE1.					cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						ACAGCACCCCGCAGGAGTTTA	0.572													6	92					0	0	1	0	0	A	29855958	G	A	29855958	3	1	449	1	0	0	0	0	1	0	0	0	10014	1087	38	1	2806	1	MTUS2	13	29855958	Missense_Mutation	SNP	G	TCGA-S9-A7R1-01A-12D-A34J-08		29855958	85313920	22	35724											
SEL1L	6400	broad.mit.edu	37	14	81945999	81945999	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A7R1-01A-12D-A34J-08	TCGA-S9-A7R1-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f8e448f-42f5-4726-8381-26b02990f188	943aa030-fbfc-48ce-a854-5f16cdea9290	g.chr14:81945999T>C	ENST00000336735.4	-	20	2248	c.2132A>G	c.(2131-2133)aAa>aGa	p.K711R		NM_005065.5	NP_005056.3	Q9UBV2	SE1L1_HUMAN	sel-1 suppressor of lin-12-like (C. elegans)	711	Interaction with ERLEC1, OS9 and SYVN1.				Notch signaling pathway	endoplasmic reticulum membrane|integral to membrane	protein binding			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3)	28				BRCA - Breast invasive adenocarcinoma(234;0.0299)		GACGCCCAATTTGCAGAGGGC	0.433													39	54					0	0	1	0	0	C	81945999	T	C	81945999	3	2	449	1	0	0	0	0	1	0	0	0	14064	1841	64	3	260	3	SEL1L	14	81945999	Missense_Mutation	SNP	T	TCGA-S9-A7R1-01A-12D-A34J-08		81945999	25403541	23	35725											
BLM	641	broad.mit.edu	37	15	91310185	91310185	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A7R1-01A-12D-A34J-08	TCGA-S9-A7R1-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f8e448f-42f5-4726-8381-26b02990f188	943aa030-fbfc-48ce-a854-5f16cdea9290	g.chr15:91310185A>G	ENST00000355112.3	+	10	2357	c.2239A>G	c.(2239-2241)Aca>Gca	p.T747A	BLM_ENST00000560136.1_3'UTR|BLM_ENST00000560509.1_Missense_Mutation_p.T747A	NM_000057.2	NP_000048.1	P54132	BLM_HUMAN	Bloom syndrome, RecQ helicase-like	747	Helicase ATP-binding.				double-strand break repair via homologous recombination|G2 phase of mitotic cell cycle|G2/M transition DNA damage checkpoint|negative regulation of cell division|positive regulation of transcription, DNA-dependent|protein oligomerization|regulation of cyclin-dependent protein kinase activity|replication fork processing|replication fork protection|response to X-ray	cytoplasm|lateral element|nuclear matrix|nucleolus|PML body	ATP binding|bubble DNA binding|DNA strand annealing activity|four-way junction helicase activity|G-quadruplex DNA binding|p53 binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(78;0.0875)|all_lung(78;0.109)		Lung(145;0.189)			CTCAGAAGCTACAAATATTTA	0.269			"Mis, N, F"			"leukemia, lymphoma, skin squamous cell , other cancers"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Bloom syndrome				16	90					0	0	1	0	0	G	91310185	A	G	91310185	3	3	449	1	0	0	0	0	1	0	0	0	1444	391	14	3	2273	3	BLM	15	91310185	Missense_Mutation	SNP	A	TCGA-S9-A7R1-01A-12D-A34J-08		91310185	11221207	24	35726											
ZNF597	146434	broad.mit.edu	37	16	3486744	3486744	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A7R1-01A-12D-A34J-08	TCGA-S9-A7R1-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f8e448f-42f5-4726-8381-26b02990f188	943aa030-fbfc-48ce-a854-5f16cdea9290	g.chr16:3486744C>T	ENST00000301744.4	-	4	1190	c.955G>A	c.(955-957)Gac>Aac	p.D319N		NM_152457.1	NP_689670.1	Q96LX8	ZN597_HUMAN	zinc finger protein 597	319					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	13						GAGTCCTCGTCGTGGCTCTTC	0.502													8	96					0	0	1	0	0	T	3486744	C	T	3486744	3	4	449	1	0	0	0	0	1	0	0	0	18084	884	31	1	323	1	ZNF597	16	3486744	Missense_Mutation	SNP	C	TCGA-S9-A7R1-01A-12D-A34J-08		3486744	86868009	25	35727											
PKD1L2	114780	broad.mit.edu	37	16	81222525	81222525	+	RNA	SNP	G	G	A			TCGA-S9-A7R1-01A-12D-A34J-08	TCGA-S9-A7R1-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f8e448f-42f5-4726-8381-26b02990f188	943aa030-fbfc-48ce-a854-5f16cdea9290	g.chr16:81222525G>A	ENST00000337114.4	-	0	1749				PKD1L2_ENST00000525539.1_RNA	NM_001076780.1	NP_001070248.1	Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						TCATTGTCTGGCCAGCCCAGG	0.428													5	176					0	0	1	0	0	A	81222525	G	A	81222525	1	1	449	0	1	0	0	0	0	0	0	0	12013	1203	42	2		2	PKD1L2	16	81222525	RNA	SNP	G	TCGA-S9-A7R1-01A-12D-A34J-08	77735781	81222525	9132228	26	35728											
UTP6	55813	broad.mit.edu	37	17	30207649	30207649	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7R1-01A-12D-A34J-08	TCGA-S9-A7R1-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f8e448f-42f5-4726-8381-26b02990f188	943aa030-fbfc-48ce-a854-5f16cdea9290	g.chr17:30207649G>A	ENST00000261708.4	-	11	1047	c.910C>T	c.(910-912)Cgg>Tgg	p.R304W	CTC-542B22.2_ENST00000583236.1_lincRNA	NM_018428.2	NP_060898.2	Q9NYH9	UTP6_HUMAN	UTP6, small subunit (SSU) processome component, homolog (yeast)	304					rRNA processing	nucleolus	binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)	21		all_hematologic(16;0.0149)|Ovarian(249;0.021)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|Breast(31;0.231)				TCCTCCTTCCGGCCGACCTCC	0.488													52	82					0	0	1	0	0	A	30207649	G	A	30207649	3	1	449	1	0	0	0	0	1	0	0	0	17162	1115	39	1	919	1	UTP6	17	30207649	Missense_Mutation	SNP	G	TCGA-S9-A7R1-01A-12D-A34J-08		30207649	50987561	27	35729											
SLC2A11	66035	broad.mit.edu	37	22	24217412	24217412	+	Silent	SNP	C	C	T			TCGA-S9-A7R1-01A-12D-A34J-08	TCGA-S9-A7R1-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f8e448f-42f5-4726-8381-26b02990f188	943aa030-fbfc-48ce-a854-5f16cdea9290	g.chr22:24217412C>T	ENST00000345044.6	+	4	658	c.390C>T	c.(388-390)ctC>ctT	p.L130L	SLC2A11_ENST00000398356.2_Silent_p.L137L|SLC2A11_ENST00000316185.8_Silent_p.L133L|SLC2A11_ENST00000467660.1_3'UTR|SLC2A11_ENST00000405847.1_Silent_p.L130L|AP000350.10_ENST00000433835.3_Silent_p.L95L			Q9BYW1	GTR11_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 11	130						integral to membrane|plasma membrane	sugar transmembrane transporter activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(2)	12						GAAGACTGCTCGTGGGAGTCA	0.448													4	74					0	0	1	0	0	T	24217412	C	T	24217412	2	4	449	1	0	0	0	0	0	0	0	1	14595	871	31	1		1	SLC2A11	22	24217412	Silent	SNP	C	TCGA-S9-A7R1-01A-12D-A34J-08		24217412	27087154	28	35730											
PTCHD1	139411	broad.mit.edu	37	X	23398114	23398114	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A7R1-01A-12D-A34J-08	TCGA-S9-A7R1-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f8e448f-42f5-4726-8381-26b02990f188	943aa030-fbfc-48ce-a854-5f16cdea9290	g.chrX:23398114C>T	ENST00000379361.4	+	2	1618	c.758C>T	c.(757-759)aCg>aTg	p.T253M		NM_173495.2	NP_775766.2	Q96NR3	PTHD1_HUMAN	patched domain containing 1	253					cognition|smoothened signaling pathway	integral to membrane|plasma membrane	hedgehog receptor activity			NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2)	42						TACCCTTACACGTCCTCCTCA	0.507													8	143					0	0	1	0	0	T	23398114	C	T	23398114	3	4	449	1	0	0	0	0	1	0	0	0	12781	536	19	1	764	1	PTCHD1	23	23398114	Missense_Mutation	SNP	C	TCGA-S9-A7R1-01A-12D-A34J-08		23398114	131872446	29	35731											
SSX5	6758	broad.mit.edu	37	X	48053653	48053653	+	Silent	SNP	C	C	T			TCGA-S9-A7R1-01A-12D-A34J-08	TCGA-S9-A7R1-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f8e448f-42f5-4726-8381-26b02990f188	943aa030-fbfc-48ce-a854-5f16cdea9290	g.chrX:48053653C>T	ENST00000311798.1	-	5	367	c.315G>A	c.(313-315)aaG>aaA	p.K105K	SSX5_ENST00000347757.1_Silent_p.K64K|SSX5_ENST00000376923.1_Silent_p.K64K	NM_021015.3	NP_066295.3	O60225	SSX5_HUMAN	synovial sarcoma, X breakpoint 5	64					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding			endometrium(3)|kidney(1)|large_intestine(6)|lung(7)|skin(1)	18						GGAGGGTGGCCTTGAAACCTA	0.473													9	93					0	0	1	0	0	T	48053653	C	T	48053653	2	4	449	1	0	0	0	0	0	0	0	1	15264	680	24	2		2	SSX5	23	48053653	Silent	SNP	C	TCGA-S9-A7R1-01A-12D-A34J-08	24655539	48053653	107216907	30	35732											
LRRC7	57554	broad.mit.edu	37	1	70488940	70488940	+	Missense_Mutation	SNP	G	G	T			TCGA-S9-A7R2-01A-21D-A34J-08	TCGA-S9-A7R2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cf4b7-7bf9-4246-bb02-4490457998e8	c60fce17-9f90-426d-ac1f-8a0faa38b361	g.chr1:70488940G>T	ENST00000310961.5	+	18	1996	c.1578G>T	c.(1576-1578)caG>caT	p.Q526H	LRRC7_ENST00000415775.2_Intron|RP11-181B18.1_ENST00000414132.1_RNA|LRRC7_ENST00000035383.5_Missense_Mutation_p.Q521H			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	521						centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						CCGTCCCCCAGAATGACCCAC	0.562													19	60					1.01871e-10	1.063e-10	1	1	0	T	70488940	G	T	70488940	3	4	450	1	0	0	0	0	1	0	0	0	9065	933	33	4	1621	4	LRRC7	1	70488940	Missense_Mutation	SNP	G	TCGA-S9-A7R2-01A-21D-A34J-08		70488940	178761681	1	35733											
FLG	2312	broad.mit.edu	37	1	152281967	152281967	+	Missense_Mutation	SNP	C	C	A			TCGA-S9-A7R2-01A-21D-A34J-08	TCGA-S9-A7R2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cf4b7-7bf9-4246-bb02-4490457998e8	c60fce17-9f90-426d-ac1f-8a0faa38b361	g.chr1:152281967C>A	ENST00000368799.1	-	3	5430	c.5395G>T	c.(5395-5397)Gac>Tac	p.D1799Y	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1799	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGGAGCTGTCTCGTGCCTGC	0.602									Ichthyosis				56	412					5.47352e-35	5.97112e-35	1	1	0	A	152281967	C	A	152281967	3	1	450	1	0	0	0	0	1	0	0	0	5955	913	32	4	6794	4	FLG	1	152281967	Missense_Mutation	SNP	C	TCGA-S9-A7R2-01A-21D-A34J-08	81793027	152281967	96968654	2	35734											
PTPN14	5784	broad.mit.edu	37	1	214556732	214556732	+	Missense_Mutation	SNP	T	T	A			TCGA-S9-A7R2-01A-21D-A34J-08	TCGA-S9-A7R2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cf4b7-7bf9-4246-bb02-4490457998e8	c60fce17-9f90-426d-ac1f-8a0faa38b361	g.chr1:214556732T>A	ENST00000366956.5	-	13	2660	c.2466A>T	c.(2464-2466)aaA>aaT	p.K822N	PTPN14_ENST00000543945.1_3'UTR	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14	822					lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding			NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		TCACAGGCTCTTTTTTGACCC	0.552													11	74					0	0	1	0	0	A	214556732	T	A	214556732	3	1	450	1	0	0	0	0	1	0	0	0	12833	1606	56	5	1125	5	PTPN14	1	214556732	Missense_Mutation	SNP	T	TCGA-S9-A7R2-01A-21D-A34J-08	62274765	214556732	34693889	3	35735											
LTBP1	4052	broad.mit.edu	37	2	33412100	33412100	+	Nonsense_Mutation	SNP	C	C	G			TCGA-S9-A7R2-01A-21D-A34J-08	TCGA-S9-A7R2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cf4b7-7bf9-4246-bb02-4490457998e8	c60fce17-9f90-426d-ac1f-8a0faa38b361	g.chr2:33412100C>G	ENST00000404816.2	+	6	1732	c.1379C>G	c.(1378-1380)tCa>tGa	p.S460*	LTBP1_ENST00000418533.2_Nonsense_Mutation_p.S134*|LTBP1_ENST00000390003.4_Nonsense_Mutation_p.S134*|LTBP1_ENST00000407925.1_Nonsense_Mutation_p.S134*|LTBP1_ENST00000404525.1_Nonsense_Mutation_p.S134*|LTBP1_ENST00000402934.1_Nonsense_Mutation_p.S134*|LTBP1_ENST00000354476.3_Nonsense_Mutation_p.S460*			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	460					negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				GTCATCCATTCAACACATACC	0.512													10	46					0	0	1	0	0	G	33412100	C	G	33412100	4	3	450	1	0	0	0	0	0	1	0	0	9118	838	29	5	1456	5	LTBP1	2	33412100	Nonsense_Mutation	SNP	C	TCGA-S9-A7R2-01A-21D-A34J-08		33412100	209787273	4	35736											
IL18RAP	8807	broad.mit.edu	37	2	103061723	103061723	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7R2-01A-21D-A34J-08	TCGA-S9-A7R2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cf4b7-7bf9-4246-bb02-4490457998e8	c60fce17-9f90-426d-ac1f-8a0faa38b361	g.chr2:103061723G>A	ENST00000264260.2	+	9	1584	c.995G>A	c.(994-996)cGc>cAc	p.R332H	IL18RAP_ENST00000409369.1_Missense_Mutation_p.R190H	NM_003853.2	NP_003844.1	O95256	I18RA_HUMAN	interleukin 18 receptor accessory protein	332	Ig-like C2-type 2.				cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						CGTGATCTTCGCAGGAAGTTT	0.423													4	78					0	0	1	0	0	A	103061723	G	A	103061723	3	1	450	1	0	0	0	0	1	0	0	0	7692	1087	38	1	1021	1	IL18RAP	2	103061723	Missense_Mutation	SNP	G	TCGA-S9-A7R2-01A-21D-A34J-08	69649623	103061723	140137650	5	35737											
EPM2AIP1	9852	broad.mit.edu	37	3	37032873	37032873	+	Nonsense_Mutation	SNP	G	G	A			TCGA-S9-A7R2-01A-21D-A34J-08	TCGA-S9-A7R2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cf4b7-7bf9-4246-bb02-4490457998e8	c60fce17-9f90-426d-ac1f-8a0faa38b361	g.chr3:37032873G>A	ENST00000322716.5	-	1	1922	c.1696C>T	c.(1696-1698)Cga>Tga	p.R566*		NM_014805.3	NP_055620.1	Q7L775	EPMIP_HUMAN	EPM2A (laforin) interacting protein 1	566						endoplasmic reticulum				breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(12)|ovary(2)	27						TGTTGGTTTCGAGTCAAATAT	0.453													26	69					0	0	1	0	0	A	37032873	G	A	37032873	4	1	450	1	0	0	0	0	0	1	0	0	5212	1066	37	1	131	1	EPM2AIP1	3	37032873	Nonsense_Mutation	SNP	G	TCGA-S9-A7R2-01A-21D-A34J-08		37032873	160989557	6	35738											
FSTL1	11167	broad.mit.edu	37	3	120123741	120123741	+	Silent	SNP	A	A	G			TCGA-S9-A7R2-01A-21D-A34J-08	TCGA-S9-A7R2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cf4b7-7bf9-4246-bb02-4490457998e8	c60fce17-9f90-426d-ac1f-8a0faa38b361	g.chr3:120123741A>G	ENST00000295633.3	-	7	896	c.540T>C	c.(538-540)aaT>aaC	p.N180N	FSTL1_ENST00000424703.2_Silent_p.N145N	NM_007085.4	NP_009016.1	Q12841	FSTL1_HUMAN	follistatin-like 1	180					BMP signaling pathway	extracellular space	calcium ion binding|heparin binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|skin(1)	20				GBM - Glioblastoma multiforme(114;0.189)		ACGTTGTAATATTGATGGCAG	0.453													24	76					0	0	1	0	0	G	120123741	A	G	120123741	2	3	450	1	0	0	0	0	0	0	0	1	6112	446	16	3		3	FSTL1	3	120123741	Silent	SNP	A	TCGA-S9-A7R2-01A-21D-A34J-08	83090868	120123741	77898689	7	35739											
UGT2A1	10941	broad.mit.edu	37	4	70460268	70460268	+	Missense_Mutation	SNP	C	C	A			TCGA-S9-A7R2-01A-21D-A34J-08	TCGA-S9-A7R2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cf4b7-7bf9-4246-bb02-4490457998e8	c60fce17-9f90-426d-ac1f-8a0faa38b361	g.chr4:70460268C>A	ENST00000503640.1	-	5	1286	c.1231G>T	c.(1231-1233)Gtg>Ttg	p.V411L	UGT2A1_ENST00000502343.1_5'UTR|UGT2A2_ENST00000457664.2_Missense_Mutation_p.V420L|UGT2A1_ENST00000514019.1_Missense_Mutation_p.V577L|UGT2A1_ENST00000512704.1_Missense_Mutation_p.V367L|UGT2A1_ENST00000286604.4_Missense_Mutation_p.V411L	NM_006798.3	NP_006789.2	Q9Y4X1	UD2A1_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus	411					detection of chemical stimulus|sensory perception of smell	integral to membrane	glucuronosyltransferase activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						TTCACTTCCACAGCTGCTCCT	0.443													20	112					7.21436e-19	7.75275e-19	1	1	0	A	70460268	C	A	70460268	3	1	450	1	0	0	0	0	1	0	0	0	17013	478	17	5	360	5	UGT2A1	4	70460268	Missense_Mutation	SNP	C	TCGA-S9-A7R2-01A-21D-A34J-08		70460268	120694008	8	35740											
CSN3	1448	broad.mit.edu	37	4	71114860	71114860	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7R2-01A-21D-A34J-08	TCGA-S9-A7R2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cf4b7-7bf9-4246-bb02-4490457998e8	c60fce17-9f90-426d-ac1f-8a0faa38b361	g.chr4:71114860G>A	ENST00000304954.3	+	4	319	c.233G>A	c.(232-234)cGc>cAc	p.R78H		NM_005212.2	NP_005203.2	P07498	CASK_HUMAN	casein kappa	78						extracellular region	protein binding			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18						TATGTGCCTCGCACATATTAT	0.448													16	43					0	0	1	0	0	A	71114860	G	A	71114860	3	1	450	1	0	0	0	0	1	0	0	0	3974	1087	38	1	243	1	CSN3	4	71114860	Missense_Mutation	SNP	G	TCGA-S9-A7R2-01A-21D-A34J-08	654592	71114860	120039416	9	35741											
KIAA1109	84162	broad.mit.edu	37	4	123151111	123151111	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7R2-01A-21D-A34J-08	TCGA-S9-A7R2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cf4b7-7bf9-4246-bb02-4490457998e8	c60fce17-9f90-426d-ac1f-8a0faa38b361	g.chr4:123151111G>A	ENST00000264501.4	+	26	3441	c.3068G>A	c.(3067-3069)tGt>tAt	p.C1023Y	KIAA1109_ENST00000388738.3_Missense_Mutation_p.C1023Y|KIAA1109_ENST00000495260.1_3'UTR|KIAA1109_ENST00000455637.1_Missense_Mutation_p.C1023Y			Q2LD37	K1109_HUMAN	KIAA1109	1023					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						GTTGCAAACTGTAATCTCCAC	0.343													13	49					0	0	1	0	0	A	123151111	G	A	123151111	3	1	450	1	0	0	0	0	1	0	0	0	8250	1377	48	2	3162	2	KIAA1109	4	123151111	Missense_Mutation	SNP	G	TCGA-S9-A7R2-01A-21D-A34J-08	52036251	123151111	68003165	10	35742											
CDKN2AIP	55602	broad.mit.edu	37	4	184367380	184367380	+	Silent	SNP	G	G	A			TCGA-S9-A7R2-01A-21D-A34J-08	TCGA-S9-A7R2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cf4b7-7bf9-4246-bb02-4490457998e8	c60fce17-9f90-426d-ac1f-8a0faa38b361	g.chr4:184367380G>A	ENST00000504169.1	+	3	750	c.543G>A	c.(541-543)tcG>tcA	p.S181S	CDKN2AIP_ENST00000302350.4_3'UTR|CDKN2AIP_ENST00000506835.1_3'UTR	NM_017632.2	NP_060102.1	Q9NXV6	CARF_HUMAN	CDKN2A interacting protein	181	Ser-rich.				negative regulation of cell growth|positive regulation of signal transduction|regulation of protein stability	granular component|nucleoplasm	double-stranded RNA binding|p53 binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(1)	6		all_lung(41;6.9e-12)|Lung NSC(41;1.28e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;1.15e-26)|Epithelial(43;2.98e-22)|OV - Ovarian serous cystadenocarcinoma(60;7.64e-10)|GBM - Glioblastoma multiforme(59;4.22e-06)|Colorectal(24;5.87e-06)|STAD - Stomach adenocarcinoma(60;2.09e-05)|COAD - Colon adenocarcinoma(29;5.15e-05)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)		GTATAGGGTCGGCCATCAAAT	0.483													4	64					0	0	1	0	0	A	184367380	G	A	184367380	2	1	450	1	0	0	0	0	0	0	0	1	3184	1103	39	1		1	CDKN2AIP	4	184367380	Silent	SNP	G	TCGA-S9-A7R2-01A-21D-A34J-08	61216269	184367380	6786896	11	35743											
KIAA0947	23379	broad.mit.edu	37	5	5463794	5463794	+	Silent	SNP	T	T	A			TCGA-S9-A7R2-01A-21D-A34J-08	TCGA-S9-A7R2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cf4b7-7bf9-4246-bb02-4490457998e8	c60fce17-9f90-426d-ac1f-8a0faa38b361	g.chr5:5463794T>A	ENST00000296564.7	+	13	4569	c.4347T>A	c.(4345-4347)ccT>ccA	p.P1449P		NM_015325.2	NP_056140.1	Q9Y2F5	K0947_HUMAN	KIAA0947	1449										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						GAGACATCCCTATTTCTCAGG	0.522													8	73					0	0	1	0	0	A	5463794	T	A	5463794	2	1	450	1	0	0	0	0	0	0	0	1	8244	1509	53	5		5	KIAA0947	5	5463794	Silent	SNP	T	TCGA-S9-A7R2-01A-21D-A34J-08		5463794	175451466	12	35744											
EMB	133418	broad.mit.edu	37	5	49723994	49723994	+	Missense_Mutation	SNP	A	A	T			TCGA-S9-A7R2-01A-21D-A34J-08	TCGA-S9-A7R2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cf4b7-7bf9-4246-bb02-4490457998e8	c60fce17-9f90-426d-ac1f-8a0faa38b361	g.chr5:49723994A>T	ENST00000303221.5	-	2	395	c.180T>A	c.(178-180)caT>caA	p.H60Q	EMB_ENST00000508934.1_Missense_Mutation_p.H60Q|EMB_ENST00000506190.1_5'UTR|EMB_ENST00000514111.1_Missense_Mutation_p.H10Q	NM_198449.2	NP_940851.1	Q6PCB8	EMB_HUMAN	embigin	60						integral to membrane				breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	15	Lung SC(58;0.218)	Lung NSC(810;0.0795)				GTGATATGTTATGACTCTCCA	0.328													10	46					0	0	1	0	0	T	49723994	A	T	49723994	3	4	450	1	0	0	0	0	1	0	0	0	5113	446	16	4	835	4	EMB	5	49723994	Missense_Mutation	SNP	A	TCGA-S9-A7R2-01A-21D-A34J-08	44260200	49723994	131191266	13	35745											
ATF6B	1388	broad.mit.edu	37	6	32089121	32089121	+	Silent	SNP	G	G	C			TCGA-S9-A7R2-01A-21D-A34J-08	TCGA-S9-A7R2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cf4b7-7bf9-4246-bb02-4490457998e8	c60fce17-9f90-426d-ac1f-8a0faa38b361	g.chr6:32089121G>C	ENST00000375201.4	-	6	519	c.474C>G	c.(472-474)gtC>gtG	p.V158V	ATF6B_ENST00000375203.3_Silent_p.V161V			Q99941	ATF6B_HUMAN	activating transcription factor 6 beta	161					response to unfolded protein|signal transduction	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	22						TCTTGGTCTGGACATCTGTGG	0.547													10	20					0	0	1	0	0	C	32089121	G	C	32089121	2	2	450	1	0	0	0	0	0	0	0	1	1084	1161	41	5		5	ATF6B	6	32089121	Silent	SNP	G	TCGA-S9-A7R2-01A-21D-A34J-08		32089121	139025946	14	35746											
IL17F	112744	broad.mit.edu	37	6	52101833	52101833	+	Missense_Mutation	SNP	C	C	T	rs141798304	byFrequency	TCGA-S9-A7R2-01A-21D-A34J-08	TCGA-S9-A7R2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cf4b7-7bf9-4246-bb02-4490457998e8	c60fce17-9f90-426d-ac1f-8a0faa38b361	g.chr6:52101833C>T	ENST00000336123.4	-	3	495	c.388G>A	c.(388-390)Gtc>Atc	p.V130I		NM_052872.3	NP_443104.1	Q96PD4	IL17F_HUMAN	interleukin 17F	130					cartilage development|inflammatory response|lymphotoxin A biosynthetic process|negative regulation of angiogenesis|proteoglycan metabolic process|regulation of granulocyte macrophage colony-stimulating factor biosynthetic process|regulation of interleukin-2 biosynthetic process|regulation of interleukin-6 biosynthetic process|regulation of interleukin-8 biosynthetic process|regulation of transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|cytokine binding|protein homodimerization activity			NS(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)	14	Lung NSC(77;0.116)					TTCCTCCGGACGACCAGGGTC	0.542													8	44					0	0	1	0	0	T	52101833	C	T	52101833	3	4	450	1	0	0	0	0	1	0	0	0	7682	536	19	1	107	1	IL17F	6	52101833	Missense_Mutation	SNP	C	TCGA-S9-A7R2-01A-21D-A34J-08	20012712	52101833	119013234	15	35747											
HMGCLL1	54511	broad.mit.edu	37	6	55406633	55406633	+	Splice_Site	SNP	A	A	G			TCGA-S9-A7R2-01A-21D-A34J-08	TCGA-S9-A7R2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cf4b7-7bf9-4246-bb02-4490457998e8	c60fce17-9f90-426d-ac1f-8a0faa38b361	g.chr6:55406633A>G	ENST00000398661.2	-	4	412	c.281T>C	c.(280-282)gTt>gCt	p.V94A	HMGCLL1_ENST00000370850.2_Splice_Site_p.V64A|HMGCLL1_ENST00000428842.1_Splice_Site_p.V64A|HMGCLL1_ENST00000274901.4_Splice_Site_p.V64A|HMGCLL1_ENST00000508459.1_Splice_Site_p.V64A|HMGCLL1_ENST00000308161.4_Splice_Site_p.V64A	NM_019036.2	NP_061909.2	Q8TB92	HMGC2_HUMAN	3-hydroxymethyl-3-methylglutaryl-CoA lyase-like 1	94							hydroxymethylglutaryl-CoA lyase activity|metal ion binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31	Lung NSC(77;0.0875)		LUSC - Lung squamous cell carcinoma(124;0.23)			AGGAACTATAACCTATGAAAA	0.294													26	89					0	0	1	0	0	G	55406633	A	G	55406633	5	3	450	1	0	0	0	0	0	0	1	0	7271	57	2	3	859	3	HMGCLL1	6	55406633	Splice_Site	SNP	A	TCGA-S9-A7R2-01A-21D-A34J-08	3304800	55406633	115708434	16	35748											
EPB41L2	2037	broad.mit.edu	37	6	131211436	131211436	+	Missense_Mutation	SNP	C	C	G			TCGA-S9-A7R2-01A-21D-A34J-08	TCGA-S9-A7R2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cf4b7-7bf9-4246-bb02-4490457998e8	c60fce17-9f90-426d-ac1f-8a0faa38b361	g.chr6:131211436C>G	ENST00000337057.3	-	11	1839	c.1658G>C	c.(1657-1659)gGa>gCa	p.G553A	EPB41L2_ENST00000392427.3_Missense_Mutation_p.G553A|EPB41L2_ENST00000368128.2_Missense_Mutation_p.G553A|EPB41L2_ENST00000445890.2_Missense_Mutation_p.G553A|EPB41L2_ENST00000527411.1_Missense_Mutation_p.G553A|EPB41L2_ENST00000525193.1_Missense_Mutation_p.G553A|EPB41L2_ENST00000527659.1_Missense_Mutation_p.G553A|EPB41L2_ENST00000528282.1_Missense_Mutation_p.G553A|EPB41L2_ENST00000529208.1_Missense_Mutation_p.G553A|EPB41L2_ENST00000525271.1_Missense_Mutation_p.G553A|EPB41L2_ENST00000530481.1_Missense_Mutation_p.G553A	NM_001431.3	NP_001422.1	O43491	E41L2_HUMAN	erythrocyte membrane protein band 4.1-like 2	553	Hydrophilic.				cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		GTGTTTACCTCCATCTAGACT	0.448													26	132					0	0	1	0	0	G	131211436	C	G	131211436	3	3	450	1	0	0	0	0	1	0	0	0	5181	855	30	5	1395	5	EPB41L2	6	131211436	Missense_Mutation	SNP	C	TCGA-S9-A7R2-01A-21D-A34J-08	75804803	131211436	39903631	17	35749	149	2									
EPB41L2	2037	broad.mit.edu	37	6	131211445	131211445	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A7R2-01A-21D-A34J-08	TCGA-S9-A7R2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cf4b7-7bf9-4246-bb02-4490457998e8	c60fce17-9f90-426d-ac1f-8a0faa38b361	g.chr6:131211445C>T	ENST00000337057.3	-	11	1830	c.1649G>A	c.(1648-1650)aGt>aAt	p.S550N	EPB41L2_ENST00000392427.3_Missense_Mutation_p.S550N|EPB41L2_ENST00000368128.2_Missense_Mutation_p.S550N|EPB41L2_ENST00000445890.2_Missense_Mutation_p.S550N|EPB41L2_ENST00000527411.1_Missense_Mutation_p.S550N|EPB41L2_ENST00000525193.1_Missense_Mutation_p.S550N|EPB41L2_ENST00000527659.1_Missense_Mutation_p.S550N|EPB41L2_ENST00000528282.1_Missense_Mutation_p.S550N|EPB41L2_ENST00000529208.1_Missense_Mutation_p.S550N|EPB41L2_ENST00000525271.1_Missense_Mutation_p.S550N|EPB41L2_ENST00000530481.1_Missense_Mutation_p.S550N	NM_001431.3	NP_001422.1	O43491	E41L2_HUMAN	erythrocyte membrane protein band 4.1-like 2	550	Hydrophilic.				cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		TCCATCTAGACTCCTGGAGAC	0.453													29	137					0	0	1	0	0	T	131211445	C	T	131211445	3	4	450	1	0	0	0	0	1	0	0	0	5181	565	20	2	1404	2	EPB41L2	6	131211445	Missense_Mutation	SNP	C	TCGA-S9-A7R2-01A-21D-A34J-08	9	131211445	39903622	18	35750	149	2									
EPB41L2	2037	broad.mit.edu	37	6	131211508	131211508	+	Missense_Mutation	SNP	C	C	G			TCGA-S9-A7R2-01A-21D-A34J-08	TCGA-S9-A7R2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cf4b7-7bf9-4246-bb02-4490457998e8	c60fce17-9f90-426d-ac1f-8a0faa38b361	g.chr6:131211508C>G	ENST00000337057.3	-	11	1767	c.1586G>C	c.(1585-1587)aGc>aCc	p.S529T	EPB41L2_ENST00000392427.3_Missense_Mutation_p.S529T|EPB41L2_ENST00000368128.2_Missense_Mutation_p.S529T|EPB41L2_ENST00000445890.2_Missense_Mutation_p.S529T|EPB41L2_ENST00000527411.1_Missense_Mutation_p.S529T|EPB41L2_ENST00000525193.1_Missense_Mutation_p.S529T|EPB41L2_ENST00000527659.1_Missense_Mutation_p.S529T|EPB41L2_ENST00000528282.1_Missense_Mutation_p.S529T|EPB41L2_ENST00000529208.1_Missense_Mutation_p.S529T|EPB41L2_ENST00000525271.1_Missense_Mutation_p.S529T|EPB41L2_ENST00000530481.1_Missense_Mutation_p.S529T	NM_001431.3	NP_001422.1	O43491	E41L2_HUMAN	erythrocyte membrane protein band 4.1-like 2	529	Hydrophilic.				cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		TATGAGGGTGCTGGCCTGGCG	0.507													29	117					0	0	1	0	0	G	131211508	C	G	131211508	3	3	450	1	0	0	0	0	1	0	0	0	5181	797	28	4	1467	4	EPB41L2	6	131211508	Missense_Mutation	SNP	C	TCGA-S9-A7R2-01A-21D-A34J-08	63	131211508	39903559	19	35751											
TNRC18	84629	broad.mit.edu	37	7	5430008	5430011	+	Frame_Shift_Del	DEL	AAAG	AAAG	-	rs34840801		TCGA-S9-A7R2-01A-21D-A34J-08	TCGA-S9-A7R2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cf4b7-7bf9-4246-bb02-4490457998e8	c60fce17-9f90-426d-ac1f-8a0faa38b361	g.chr7:5430008_5430011delAAAG	ENST00000399434.2	-	3	528_531	c.370_373delCTTT	c.(370-375)ctttttfs	p.LF124fs	TNRC18_ENST00000399537.4_Intron|TNRC18_ENST00000430969.1_Intron			O15417	TNC18_HUMAN	trinucleotide repeat containing 18	0							DNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		aaaaaaaaaaaaaGCCAGCATCCT	0.544													3	6	---	---	---	---						-	5430011	AAAG	-	5430008	7	5	450	1	0	1	0	1	0	0	0	0	16399	29	1	0		0	TNRC18	7	5430008	Frame_Shift_Del	DEL	AAAG	TCGA-S9-A7R2-01A-21D-A34J-08		5430008	153708655	20	35752											
CDCA7L	55536	broad.mit.edu	37	7	21948089	21948089	+	Missense_Mutation	SNP	A	A	C			TCGA-S9-A7R2-01A-21D-A34J-08	TCGA-S9-A7R2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cf4b7-7bf9-4246-bb02-4490457998e8	c60fce17-9f90-426d-ac1f-8a0faa38b361	g.chr7:21948089A>C	ENST00000406877.3	-	4	619	c.340T>G	c.(340-342)Tct>Gct	p.S114A	CDCA7L_ENST00000465490.1_5'UTR|CDCA7L_ENST00000373934.4_Missense_Mutation_p.S68A|CDCA7L_ENST00000356195.5_Missense_Mutation_p.S80A	NM_018719.4	NP_061189.2	Q96GN5	CDA7L_HUMAN	cell division cycle associated 7-like	114	PSIP1-binding.				positive regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	29						CTCACCAAAGATGCTTTGCCA	0.418													9	91					0	0	1	0	0	C	21948089	A	C	21948089	3	2	450	1	0	0	0	0	1	0	0	0	3113	333	12	4	1052	4	CDCA7L	7	21948089	Missense_Mutation	SNP	A	TCGA-S9-A7R2-01A-21D-A34J-08	16518081	21948089	137190574	21	35753											
HECW1	23072	broad.mit.edu	37	7	43591856	43591856	+	Silent	SNP	C	C	T			TCGA-S9-A7R2-01A-21D-A34J-08	TCGA-S9-A7R2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cf4b7-7bf9-4246-bb02-4490457998e8	c60fce17-9f90-426d-ac1f-8a0faa38b361	g.chr7:43591856C>T	ENST00000395891.2	+	28	5036	c.4431C>T	c.(4429-4431)gcC>gcT	p.A1477A	HECW1_ENST00000453890.1_Silent_p.A1443A	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1		HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						TGTTTGATGCCAGGGAGCTGG	0.517													13	89					0	0	1	0	0	T	43591856	C	T	43591856	2	4	450	1	0	0	0	0	0	0	0	1	7083	581	21	2		2	HECW1	7	43591856	Silent	SNP	C	TCGA-S9-A7R2-01A-21D-A34J-08	21643767	43591856	115546807	22	35754											
EGFR	1956	broad.mit.edu	37	7	55210075	55210075	+	Missense_Mutation	SNP	T	T	G			TCGA-S9-A7R2-01A-21D-A34J-08	TCGA-S9-A7R2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cf4b7-7bf9-4246-bb02-4490457998e8	c60fce17-9f90-426d-ac1f-8a0faa38b361	g.chr7:55210075T>G	ENST00000275493.2	+	2	362	c.185T>G	c.(184-186)cTt>cGt	p.L62R	EGFR_ENST00000442591.1_Missense_Mutation_p.L62R|EGFR_ENST00000344576.2_Missense_Mutation_p.L62R|EGFR_ENST00000454757.2_Missense_Mutation_p.L9R|EGFR_ENST00000455089.1_Missense_Mutation_p.L62R|EGFR_ENST00000342916.3_Missense_Mutation_p.L62R|EGFR_ENST00000420316.2_Missense_Mutation_p.L62R	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	62					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.L62R(3)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	GAGGTGGTCCTTGGGAATTTG	0.408		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			38	118					0	0	1	0	0	G	55210075	T	G	55210075	3	3	450	1	0	0	0	0	1	0	0	0	4993	1609	56	5	191	5	EGFR	7	55210075	Missense_Mutation	SNP	T	TCGA-S9-A7R2-01A-21D-A34J-08	11618219	55210075	103928588	23	35755											
ZNF479	90827	broad.mit.edu	37	7	57194409	57194409	+	Missense_Mutation	SNP	C	C	G			TCGA-S9-A7R2-01A-21D-A34J-08	TCGA-S9-A7R2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cf4b7-7bf9-4246-bb02-4490457998e8	c60fce17-9f90-426d-ac1f-8a0faa38b361	g.chr7:57194409C>G	ENST00000331162.4	-	3	326	c.56G>C	c.(55-57)aGa>aCa	p.R19T		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	19	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			AGCTATGTCTCTGAATGTCAA	0.413													15	101					0	0	1	0	0	G	57194409	C	G	57194409	3	3	450	1	0	0	0	0	1	0	0	0	17990	913	32	4	1530	4	ZNF479	7	57194409	Missense_Mutation	SNP	C	TCGA-S9-A7R2-01A-21D-A34J-08	1984334	57194409	101944254	24	35756											
ZAN	7455	broad.mit.edu	37	7	100349693	100349693	+	RNA	SNP	C	C	T			TCGA-S9-A7R2-01A-21D-A34J-08	TCGA-S9-A7R2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cf4b7-7bf9-4246-bb02-4490457998e8	c60fce17-9f90-426d-ac1f-8a0faa38b361	g.chr7:100349693C>T	ENST00000542585.1	+	0	2113				ZAN_ENST00000546292.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000443370.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			AAAAACCCACCGTCCCCACAG	0.517													34	152					0	0	1	0	0	T	100349693	C	T	100349693	1	4	450	0	1	0	0	0	0	0	0	0	17573	639	23	1		1	ZAN	7	100349693	RNA	SNP	C	TCGA-S9-A7R2-01A-21D-A34J-08	43155284	100349693	58788970	25	35757											
MUC17	140453	broad.mit.edu	37	7	100678561	100678561	+	Silent	SNP	G	G	T			TCGA-S9-A7R2-01A-21D-A34J-08	TCGA-S9-A7R2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cf4b7-7bf9-4246-bb02-4490457998e8	c60fce17-9f90-426d-ac1f-8a0faa38b361	g.chr7:100678561G>T	ENST00000306151.4	+	3	3928	c.3864G>T	c.(3862-3864)acG>acT	p.T1288T		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1288	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	p.T1288T(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TCAGCACCACGCTGGTGACCA	0.473													7	744					6.94344e-10	7.14183e-10	1	1	0	T	100678561	G	T	100678561	2	4	450	1	0	0	0	0	0	0	0	1	10022	1074	38	5		5	MUC17	7	100678561	Silent	SNP	G	TCGA-S9-A7R2-01A-21D-A34J-08	328868	100678561	58460102	26	35758											
FAM71F2	346653	broad.mit.edu	37	7	128317737	128317737	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A7R2-01A-21D-A34J-08	TCGA-S9-A7R2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cf4b7-7bf9-4246-bb02-4490457998e8	c60fce17-9f90-426d-ac1f-8a0faa38b361	g.chr7:128317737T>C	ENST00000480462.1	+	3	591	c.485T>C	c.(484-486)aTt>aCt	p.I162T	FAM71F2_ENST00000460349.1_3'UTR|FAM71F2_ENST00000477515.1_Intron|FAM71F2_ENST00000378704.3_Missense_Mutation_p.I153T			Q6NXP2	F71F2_HUMAN	family with sequence similarity 71, member F2	162										NS(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(2)	7						CACCCAGAGATTGTGTTTCAA	0.507													7	113					0	0	1	0	0	C	128317737	T	C	128317737	3	2	450	1	0	0	0	0	1	0	0	0	5648	1493	52	3	495	3	FAM71F2	7	128317737	Missense_Mutation	SNP	T	TCGA-S9-A7R2-01A-21D-A34J-08	27639176	128317737	30820926	27	35759											
PCM1	5108	broad.mit.edu	37	8	17823519	17823519	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A7R2-01A-21D-A34J-08	TCGA-S9-A7R2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cf4b7-7bf9-4246-bb02-4490457998e8	c60fce17-9f90-426d-ac1f-8a0faa38b361	g.chr8:17823519A>G	ENST00000325083.8	+	19	3306	c.2867A>G	c.(2866-2868)aAt>aGt	p.N956S	PCM1_ENST00000519253.1_Missense_Mutation_p.N956S|PCM1_ENST00000524226.1_Missense_Mutation_p.N957S	NM_006197.3	NP_006188	Q15154	PCM1_HUMAN	pericentriolar material 1	956					centrosome organization|cilium assembly|G2/M transition of mitotic cell cycle|interkinetic nuclear migration|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome	centriolar satellite|cytosol|nuclear membrane|pericentriolar material	identical protein binding		PCM1/JAK2(30)	breast(4)|endometrium(8)|kidney(5)|large_intestine(16)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	48				Colorectal(111;0.0789)		TGGAAGAACAATTGCCCTTTT	0.388			T	"RET, JAK2"	"papillary thyroid, CML, MPD"								6	30					0	0	1	0	0	G	17823519	A	G	17823519	3	3	450	1	0	0	0	0	1	0	0	0	11631	101	4	3	2933	3	PCM1	8	17823519	Missense_Mutation	SNP	A	TCGA-S9-A7R2-01A-21D-A34J-08		17823519	128540503	28	35760											
ADAM2	2515	broad.mit.edu	37	8	39645770	39645770	+	Splice_Site	SNP	T	T	C			TCGA-S9-A7R2-01A-21D-A34J-08	TCGA-S9-A7R2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cf4b7-7bf9-4246-bb02-4490457998e8	c60fce17-9f90-426d-ac1f-8a0faa38b361	g.chr8:39645770T>C	ENST00000265708.4	-	9	746	c.643A>G	c.(643-645)Att>Gtt	p.I215V	ADAM2_ENST00000347580.4_Splice_Site_p.I196V|ADAM2_ENST00000521880.1_Splice_Site_p.I215V|ADAM2_ENST00000379853.2_Intron	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2	215	Peptidase M12B.				cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		GAAACAAAAATCTAAAATAGA	0.239													20	70					0	0	1	0	0	C	39645770	T	C	39645770	5	2	450	1	0	0	0	0	0	0	1	0	240	1449	50	3	1612	3	ADAM2	8	39645770	Splice_Site	SNP	T	TCGA-S9-A7R2-01A-21D-A34J-08	21822251	39645770	106718252	29	35761											
RGS22	26166	broad.mit.edu	37	8	100990160	100990160	+	Silent	SNP	G	G	A			TCGA-S9-A7R2-01A-21D-A34J-08	TCGA-S9-A7R2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cf4b7-7bf9-4246-bb02-4490457998e8	c60fce17-9f90-426d-ac1f-8a0faa38b361	g.chr8:100990160G>A	ENST00000360863.6	-	23	3698	c.3504C>T	c.(3502-3504)gaC>gaT	p.D1168D	RGS22_ENST00000523287.1_Silent_p.D987D|RGS22_ENST00000523437.1_Silent_p.D1156D	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	1168					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity		RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			CAGATTTTTCGTCTTCTAGGA	0.303													21	48					0	0	1	0	0	A	100990160	G	A	100990160	2	1	450	1	0	0	0	0	0	0	0	1	13355	1136	40	1		1	RGS22	8	100990160	Silent	SNP	G	TCGA-S9-A7R2-01A-21D-A34J-08	61344390	100990160	45373862	30	35762											
GRIN1	2902	broad.mit.edu	37	9	140040319	140040319	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A7R2-01A-21D-A34J-08	TCGA-S9-A7R2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cf4b7-7bf9-4246-bb02-4490457998e8	c60fce17-9f90-426d-ac1f-8a0faa38b361	g.chr9:140040319C>T	ENST00000371561.3	+	3	1632	c.535C>T	c.(535-537)Cgc>Tgc	p.R179C	GRIN1_ENST00000315048.3_Missense_Mutation_p.R179C|GRIN1_ENST00000371560.3_Missense_Mutation_p.R179C|GRIN1_ENST00000350902.5_Missense_Mutation_p.R179C|GRIN1_ENST00000471122.1_3'UTR|GRIN1_ENST00000371553.3_Missense_Mutation_p.R179C|GRIN1_ENST00000371559.4_Missense_Mutation_p.R179C|GRIN1_ENST00000371555.4_Missense_Mutation_p.R179C|GRIN1_ENST00000371546.4_Missense_Mutation_p.R179C|GRIN1_ENST00000371550.4_Missense_Mutation_p.R179C	NM_007327.3	NP_015566.1	Q05586	NMDZ1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 1	179					ionotropic glutamate receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|regulation of excitatory postsynaptic membrane potential|response to ethanol|visual learning	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane|synaptic vesicle|synaptosome	calcium ion binding|calmodulin binding|extracellular-glutamate-gated ion channel activity|glutamate binding|glycine binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;6.87e-05)|Epithelial(140;0.00095)	L-Glutamic Acid(DB00142)|Orphenadrine(DB01173)	GGCTCAGAAACGCCTGGAGAC	0.672													4	5					0	0	1	0	0	T	140040319	C	T	140040319	3	4	450	1	0	0	0	0	1	0	0	0	6819	536	19	1	545	1	GRIN1	9	140040319	Missense_Mutation	SNP	C	TCGA-S9-A7R2-01A-21D-A34J-08		140040319	1173112	31	35763											
OR4C6	219432	broad.mit.edu	37	11	55433374	55433374	+	Silent	SNP	G	G	T			TCGA-S9-A7R2-01A-21D-A34J-08	TCGA-S9-A7R2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cf4b7-7bf9-4246-bb02-4490457998e8	c60fce17-9f90-426d-ac1f-8a0faa38b361	g.chr11:55433374G>T	ENST00000314259.3	+	1	761	c.732G>T	c.(730-732)gtG>gtT	p.V244V		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	244					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						ACCTCACGGTGGTTGTATTGT	0.502													47	133					6.23363e-37	6.90495e-37	1	1	0	T	55433374	G	T	55433374	2	4	450	1	0	0	0	0	0	0	0	1	11100	1335	47	5		5	OR4C6	11	55433374	Silent	SNP	G	TCGA-S9-A7R2-01A-21D-A34J-08		55433374	79573142	32	35764											
KRT2	3849	broad.mit.edu	37	12	53045508	53045508	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A7R2-01A-21D-A34J-08	TCGA-S9-A7R2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cf4b7-7bf9-4246-bb02-4490457998e8	c60fce17-9f90-426d-ac1f-8a0faa38b361	g.chr12:53045508C>T	ENST00000309680.3	-	1	440	c.419G>A	c.(418-420)gGc>gAc	p.G140D		NM_000423.2	NP_000414.2	P35908	K22E_HUMAN	keratin 2	140	Head.				keratinization|keratinocyte activation|keratinocyte migration|keratinocyte proliferation	Golgi apparatus|keratin filament	protein binding|structural constituent of cytoskeleton			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32				BRCA - Breast invasive adenocarcinoma(357;0.19)		AGGCCCAAAGCCACCAGGACC	0.592													22	45					0	0	1	0	0	T	53045508	C	T	53045508	3	4	450	1	0	0	0	0	1	0	0	0	8500	739	26	2	1536	2	KRT2	12	53045508	Missense_Mutation	SNP	C	TCGA-S9-A7R2-01A-21D-A34J-08		53045508	80806387	33	35765											
AGAP2	116986	broad.mit.edu	37	12	58135803	58135803	+	Nonsense_Mutation	SNP	G	G	A			TCGA-S9-A7R2-01A-21D-A34J-08	TCGA-S9-A7R2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cf4b7-7bf9-4246-bb02-4490457998e8	c60fce17-9f90-426d-ac1f-8a0faa38b361	g.chr12:58135803G>A	ENST00000257897.3	-	1	137	c.52C>T	c.(52-54)Cga>Tga	p.R18*	TSPAN31_ENST00000553221.1_Intron	NM_014770.3	NP_055585.1	Q99490	AGAP2_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 2	0	Interaction with EPB41L1 (By similarity).				axon guidance|negative regulation of neuron apoptosis|negative regulation of protein catabolic process|protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	mitochondrion|nucleolus	ARF GTPase activator activity|GTP binding|zinc ion binding			breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|large_intestine(7)|lung(20)|prostate(3)|skin(1)|stomach(1)	48						ACCTCATGTCGTCTGACTTCT	0.592													403	112					0	0	1	0	0	A	58135803	G	A	58135803	4	1	450	1	0	0	0	0	0	1	0	0	367	1153	40	1	3766	1	AGAP2	12	58135803	Nonsense_Mutation	SNP	G	TCGA-S9-A7R2-01A-21D-A34J-08	5090295	58135803	75716092	34	35766											
NAA25	80018	broad.mit.edu	37	12	112499080	112499080	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7R2-01A-21D-A34J-08	TCGA-S9-A7R2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cf4b7-7bf9-4246-bb02-4490457998e8	c60fce17-9f90-426d-ac1f-8a0faa38b361	g.chr12:112499080G>A	ENST00000261745.4	-	12	1510	c.1262C>T	c.(1261-1263)aCg>aTg	p.T421M		NM_024953.3	NP_079229.2	Q14CX7	NAA25_HUMAN	N(alpha)-acetyltransferase 25, NatB auxiliary subunit	421						cytoplasm	protein binding			autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	46						AAGTAACCTCGTCAGCTGCAC	0.463													7	35					0	0	1	0	0	A	112499080	G	A	112499080	3	1	450	1	0	0	0	0	1	0	0	0	10169	1145	40	1	1708	1	NAA25	12	112499080	Missense_Mutation	SNP	G	TCGA-S9-A7R2-01A-21D-A34J-08	54363277	112499080	21352815	35	35767											
OR4K13	390433	broad.mit.edu	37	14	20502322	20502322	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A7R2-01A-21D-A34J-08	TCGA-S9-A7R2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cf4b7-7bf9-4246-bb02-4490457998e8	c60fce17-9f90-426d-ac1f-8a0faa38b361	g.chr14:20502322A>G	ENST00000315693.2	-	1	597	c.596T>C	c.(595-597)gTc>gCc	p.V199A		NM_001004714.1	NP_001004714.1	Q8NH42	OR4KD_HUMAN	olfactory receptor, family 4, subfamily K, member 13	199					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)	24	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		GTCAGCAATGACCAGGAGCTG	0.488													5	70					0	0	1	0	0	G	20502322	A	G	20502322	3	3	450	1	0	0	0	0	1	0	0	0	11116	275	10	3	320	3	OR4K13	14	20502322	Missense_Mutation	SNP	A	TCGA-S9-A7R2-01A-21D-A34J-08		20502322	86847218	36	35768											
RALGAPA1	253959	broad.mit.edu	37	14	36147303	36147303	+	Nonsense_Mutation	SNP	C	C	A			TCGA-S9-A7R2-01A-21D-A34J-08	TCGA-S9-A7R2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cf4b7-7bf9-4246-bb02-4490457998e8	c60fce17-9f90-426d-ac1f-8a0faa38b361	g.chr14:36147303C>A	ENST00000258840.6	-	22	3490	c.3100G>T	c.(3100-3102)Gaa>Taa	p.E1034*	RALGAPA1_ENST00000389698.3_Nonsense_Mutation_p.E987*|RALGAPA1_ENST00000307138.6_Nonsense_Mutation_p.E987*|RALGAPA1_ENST00000382366.3_Nonsense_Mutation_p.E1000*	NM_001283044.1	NP_001269973.1	Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)	987					activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	protein heterodimerization activity|Ral GTPase activator activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						GAAGCACTTTCTGAACCTGTA	0.373													11	18					1.5842e-08	1.60651e-08	1	1	0	A	36147303	C	A	36147303	4	1	450	1	0	0	0	0	0	1	0	0	13065	922	32	4	3384	4	RALGAPA1	14	36147303	Nonsense_Mutation	SNP	C	TCGA-S9-A7R2-01A-21D-A34J-08	15644981	36147303	71202237	37	35769											
SIPA1L1	26037	broad.mit.edu	37	14	72055540	72055540	+	Silent	SNP	A	A	G			TCGA-S9-A7R2-01A-21D-A34J-08	TCGA-S9-A7R2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cf4b7-7bf9-4246-bb02-4490457998e8	c60fce17-9f90-426d-ac1f-8a0faa38b361	g.chr14:72055540A>G	ENST00000555818.1	+	2	1299	c.951A>G	c.(949-951)cgA>cgG	p.R317R	SIPA1L1_ENST00000381232.3_Silent_p.R317R|SIPA1L1_ENST00000358550.2_Silent_p.R317R	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	317					actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		AAGATAACCGATCAGAAGACT	0.413													18	59					0	0	1	0	0	G	72055540	A	G	72055540	2	3	450	1	0	0	0	0	0	0	0	1	14384	320	12	3		3	SIPA1L1	14	72055540	Silent	SNP	A	TCGA-S9-A7R2-01A-21D-A34J-08	35908237	72055540	35294000	38	35770											
CKMT1A	548596	broad.mit.edu	37	15	43990947	43990947	+	Nonsense_Mutation	SNP	C	C	T	rs150214356		TCGA-S9-A7R2-01A-21D-A34J-08	TCGA-S9-A7R2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cf4b7-7bf9-4246-bb02-4490457998e8	c60fce17-9f90-426d-ac1f-8a0faa38b361	g.chr15:43990947C>T	ENST00000413453.2	+	8	1644	c.1120C>T	c.(1120-1122)Cga>Tga	p.R374*	STRC_ENST00000541030.1_Intron|CKMT1A_ENST00000434505.1_Nonsense_Mutation_p.R374*			P12532	KCRU_HUMAN	creatine kinase, mitochondrial 1A	374	Phosphagen kinase C-terminal.				creatine metabolic process	mitochondrial inner membrane	ATP binding|creatine kinase activity			lung(4)	4		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)	Creatine(DB00148)	TAATTTGGACCGACTAGGCAA	0.502													19	64					0	0	1	0	0	T	43990947	C	T	43990947	4	4	450	1	0	0	0	0	0	1	0	0	3472	644	23	1	1150	1	CKMT1A	15	43990947	Nonsense_Mutation	SNP	C	TCGA-S9-A7R2-01A-21D-A34J-08		43990947	58540445	39	35771											
MYO5C	55930	broad.mit.edu	37	15	52532038	52532038	+	Silent	SNP	G	G	A			TCGA-S9-A7R2-01A-21D-A34J-08	TCGA-S9-A7R2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cf4b7-7bf9-4246-bb02-4490457998e8	c60fce17-9f90-426d-ac1f-8a0faa38b361	g.chr15:52532038G>A	ENST00000261839.7	-	21	2756	c.2595C>T	c.(2593-2595)taC>taT	p.Y865Y	MYO5C_ENST00000443683.2_Intron	NM_018728.3	NP_061198.2	Q9NQX4	MYO5C_HUMAN	myosin VC	865	IQ 5.					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		ACGCCCGTGCGTATTTCTGTA	0.453													27	63					0	0	1	0	0	A	52532038	G	A	52532038	2	1	450	1	0	0	0	0	0	0	0	1	10128	1140	40	1		1	MYO5C	15	52532038	Silent	SNP	G	TCGA-S9-A7R2-01A-21D-A34J-08	8541091	52532038	49999354	40	35772											
CCNF	899	broad.mit.edu	37	16	2498903	2498903	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A7R2-01A-21D-A34J-08	TCGA-S9-A7R2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cf4b7-7bf9-4246-bb02-4490457998e8	c60fce17-9f90-426d-ac1f-8a0faa38b361	g.chr16:2498903C>T	ENST00000397066.4	+	11	1230	c.1142C>T	c.(1141-1143)aCg>aTg	p.T381M		NM_001761.2	NP_001752.2	P41002	CCNF_HUMAN	cyclin F	381	Cyclin N-terminal.				cell division|mitosis|negative regulation of centrosome duplication|protein ubiquitination|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	centriole|nucleus|SCF ubiquitin ligase complex	protein binding			breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(2)|lung(5)|prostate(4)|skin(1)	20		Ovarian(90;0.17)				GTATGGCTCACGGACAACACT	0.557													4	110					0	0	1	0	0	T	2498903	C	T	2498903	3	4	450	1	0	0	0	0	1	0	0	0	2944	536	19	1	1184	1	CCNF	16	2498903	Missense_Mutation	SNP	C	TCGA-S9-A7R2-01A-21D-A34J-08		2498903	87855850	41	35773											
CDYL2	124359	broad.mit.edu	37	16	80646694	80646694	+	Silent	SNP	G	G	A			TCGA-S9-A7R2-01A-21D-A34J-08	TCGA-S9-A7R2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cf4b7-7bf9-4246-bb02-4490457998e8	c60fce17-9f90-426d-ac1f-8a0faa38b361	g.chr16:80646694G>A	ENST00000570137.2	-	5	1202	c.1047C>T	c.(1045-1047)atC>atT	p.I349I	CDYL2_ENST00000566173.1_Silent_p.I350I|CDYL2_ENST00000563890.1_Silent_p.I350I|CDYL2_ENST00000562812.1_Silent_p.I350I	NM_152342.2	NP_689555.2	Q8N8U2	CDYL2_HUMAN	chromodomain protein, Y-like 2							nucleus	catalytic activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	21						TGGCCACCACGATAGGCTTCT	0.567													15	54					0	0	1	0	0	A	80646694	G	A	80646694	2	1	450	1	0	0	0	0	0	0	0	1	3208	1048	37	1		1	CDYL2	16	80646694	Silent	SNP	G	TCGA-S9-A7R2-01A-21D-A34J-08	78147791	80646694	9708059	42	35774											
ALOX12	239	broad.mit.edu	37	17	6913672	6913672	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7R2-01A-21D-A34J-08	TCGA-S9-A7R2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cf4b7-7bf9-4246-bb02-4490457998e8	c60fce17-9f90-426d-ac1f-8a0faa38b361	g.chr17:6913672G>A	ENST00000251535.6	+	14	1975	c.1922G>A	c.(1921-1923)cGg>cAg	p.R641Q	RP11-589P10.7_ENST00000572547.1_RNA|AC027763.2_ENST00000575727.1_Intron|AC027763.2_ENST00000573939.1_Intron|AC027763.2_ENST00000574377.1_Intron|AC027763.2_ENST00000399541.2_Intron|AC027763.2_ENST00000399540.2_Intron	NM_000697.2	NP_000688.2	P18054	LOX12_HUMAN	arachidonate 12-lipoxygenase	641	Lipoxygenase.				anti-apoptosis|cellular component movement|fatty acid oxidation|leukotriene biosynthetic process|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of cell proliferation|superoxide anion generation	cytosol|sarcolemma	arachidonate 12-lipoxygenase activity|hepoxilin-epoxide hydrolase activity|iron ion binding|lipoxygenase activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)|urinary_tract(1)	19						ATTACAGCCCGGAATGAGCAA	0.473													9	64					0	0	1	0	0	A	6913672	G	A	6913672	3	1	450	1	0	0	0	0	1	0	0	0	532	1116	39	1	1976	1	ALOX12	17	6913672	Missense_Mutation	SNP	G	TCGA-S9-A7R2-01A-21D-A34J-08		6913672	74281538	43	35775											
KRT15	3866	broad.mit.edu	37	17	39673194	39673194	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7R2-01A-21D-A34J-08	TCGA-S9-A7R2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cf4b7-7bf9-4246-bb02-4490457998e8	c60fce17-9f90-426d-ac1f-8a0faa38b361	g.chr17:39673194G>A	ENST00000254043.3	-	3	4189	c.604C>T	c.(604-606)Cgc>Tgc	p.R202C	KRT15_ENST00000393981.3_Missense_Mutation_p.R37C|KRT15_ENST00000393976.2_Missense_Mutation_p.R202C|KRT15_ENST00000393974.3_Missense_Mutation_p.R37C	NM_002275.3	NP_002266	P19012	K1C15_HUMAN	keratin 15	202	Coil 1B.|Rod.				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16		Breast(137;0.000286)				ACGCCCTGGCGCAGGGCCAGC	0.597													23	80					0	0	1	0	0	A	39673194	G	A	39673194	3	1	450	1	0	0	0	0	1	0	0	0	8495	1087	38	1	790	1	KRT15	17	39673194	Missense_Mutation	SNP	G	TCGA-S9-A7R2-01A-21D-A34J-08	32759522	39673194	41522016	44	35776											
CD300C	10871	broad.mit.edu	37	17	72541027	72541027	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A7R2-01A-21D-A34J-08	TCGA-S9-A7R2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cf4b7-7bf9-4246-bb02-4490457998e8	c60fce17-9f90-426d-ac1f-8a0faa38b361	g.chr17:72541027C>T	ENST00000330793.1	-	2	481	c.121G>A	c.(121-123)Gtg>Atg	p.V41M		NM_006678.3	NP_006669.1	Q08708	CLM6_HUMAN	CD300c molecule	41	Ig-like V-type.				cellular defense response	integral to plasma membrane	transmembrane receptor activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|skin(2)|upper_aerodigestive_tract(1)	21						CGACACTGCACACTCAGGGAT	0.537													22	75					0	0	1	0	0	T	72541027	C	T	72541027	3	4	450	1	0	0	0	0	1	0	0	0	3019	478	17	2	565	2	CD300C	17	72541027	Missense_Mutation	SNP	C	TCGA-S9-A7R2-01A-21D-A34J-08	32867833	72541027	8654183	45	35777											
RRBP1	6238	broad.mit.edu	37	20	17602584	17602584	+	Silent	SNP	C	C	T			TCGA-S9-A7R2-01A-21D-A34J-08	TCGA-S9-A7R2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cf4b7-7bf9-4246-bb02-4490457998e8	c60fce17-9f90-426d-ac1f-8a0faa38b361	g.chr20:17602584C>T	ENST00000377813.1	-	14	3459	c.3156G>A	c.(3154-3156)tcG>tcA	p.S1052S	RRBP1_ENST00000360807.4_Silent_p.S619S|RRBP1_ENST00000455029.2_Silent_p.S393S|RRBP1_ENST00000377807.2_Silent_p.S619S|RRBP1_ENST00000246043.4_Silent_p.S1052S|RRBP1_ENST00000470422.1_5'UTR			Q9P2E9	RRBP1_HUMAN	ribosome binding protein 1	1052					protein transport|translation|transmembrane transport	integral to endoplasmic reticulum membrane|ribosome	receptor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(6)	28						GCTGCTTCTCCGATTCCTCCT	0.617													5	58					0	0	1	0	0	T	17602584	C	T	17602584	2	4	450	1	0	0	0	0	0	0	0	1	13730	639	23	1		1	RRBP1	20	17602584	Silent	SNP	C	TCGA-S9-A7R2-01A-21D-A34J-08		17602584	45422936	46	35778											
RIPK4	54101	broad.mit.edu	37	21	43161239	43161239	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7R2-01A-21D-A34J-08	TCGA-S9-A7R2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cf4b7-7bf9-4246-bb02-4490457998e8	c60fce17-9f90-426d-ac1f-8a0faa38b361	g.chr21:43161239G>A	ENST00000352483.2	-	9	2322	c.2258C>T	c.(2257-2259)aCg>aTg	p.T753M	AP001615.9_ENST00000423276.1_RNA|RIPK4_ENST00000544709.1_Missense_Mutation_p.T642M|RIPK4_ENST00000542057.1_Missense_Mutation_p.T642M|RIPK4_ENST00000332512.3_Missense_Mutation_p.T705M			Q96T11	Q96T11_HUMAN	receptor-interacting serine-threonine kinase 4	705						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						GTGCAGCGCCGTCTGGTTCAG	0.677													8	126					0	0	1	0	0	A	43161239	G	A	43161239	3	1	450	1	0	0	0	0	1	0	0	0	13435	1145	40	1	244	1	RIPK4	21	43161239	Missense_Mutation	SNP	G	TCGA-S9-A7R2-01A-21D-A34J-08		43161239	4968656	47	35779											
TBC1D10A	83874	broad.mit.edu	37	22	30688392	30688392	+	Missense_Mutation	SNP	G	G	C			TCGA-S9-A7R2-01A-21D-A34J-08	TCGA-S9-A7R2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cf4b7-7bf9-4246-bb02-4490457998e8	c60fce17-9f90-426d-ac1f-8a0faa38b361	g.chr22:30688392G>C	ENST00000215790.7	-	9	1663	c.1499C>G	c.(1498-1500)tCc>tGc	p.S500C	RP1-130H16.18_ENST00000447976.1_Intron|TBC1D10A_ENST00000403362.1_Missense_Mutation_p.S412C|TBC1D10A_ENST00000403477.3_Missense_Mutation_p.S507C	NM_031937.2	NP_114143.1	Q9BXI6	TB10A_HUMAN	TBC1 domain family, member 10A	500						intracellular|microvillus	guanyl-nucleotide exchange factor activity|PDZ domain binding|Rab GTPase activator activity			cervix(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						ACTCTCTTGGGACGTCAAGCT	0.592													55	144					0	0	1	0	0	C	30688392	G	C	30688392	3	2	450	1	0	0	0	0	1	0	0	0	15655	1174	41	5	31	5	TBC1D10A	22	30688392	Missense_Mutation	SNP	G	TCGA-S9-A7R2-01A-21D-A34J-08		30688392	20616174	48	35780											
FAM47C	442444	broad.mit.edu	37	X	37029461	37029461	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A7R2-01A-21D-A34J-08	TCGA-S9-A7R2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cf4b7-7bf9-4246-bb02-4490457998e8	c60fce17-9f90-426d-ac1f-8a0faa38b361	g.chrX:37029461T>C	ENST00000358047.3	+	1	3030	c.2978T>C	c.(2977-2979)aTg>aCg	p.M993T		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	993										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						GGCTATGAAATGCCTGGCATC	0.438													40	62					0	0	1	0	0	C	37029461	T	C	37029461	3	2	450	1	0	0	0	0	1	0	0	0	5607	1464	51	3	2980	3	FAM47C	23	37029461	Missense_Mutation	SNP	T	TCGA-S9-A7R2-01A-21D-A34J-08		37029461	118241099	49	35781											
DOCK11	139818	broad.mit.edu	37	X	117739300	117739300	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7R2-01A-21D-A34J-08	TCGA-S9-A7R2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cf4b7-7bf9-4246-bb02-4490457998e8	c60fce17-9f90-426d-ac1f-8a0faa38b361	g.chrX:117739300G>A	ENST00000276204.6	+	24	2736	c.2662G>A	c.(2662-2664)Gtt>Att	p.V888I	DOCK11_ENST00000276202.7_Missense_Mutation_p.V888I			Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	888					blood coagulation	cytosol	GTP binding	p.V888I(1)		breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						TGAAGATGACGTTCCTATCAA	0.348													54	43					0	0	1	0	0	A	117739300	G	A	117739300	3	1	450	1	0	0	0	0	1	0	0	0	4713	1145	40	1	2756	1	DOCK11	23	117739300	Missense_Mutation	SNP	G	TCGA-S9-A7R2-01A-21D-A34J-08	80709839	117739300	37531260	50	35782											
LEPR	3953	broad.mit.edu	37	1	66102486	66102486	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7R3-01A-11D-A34J-08	TCGA-S9-A7R3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c66180f-e749-4b77-8f69-5ec01afae762	05a08903-42bb-4a25-a14e-9f0e3ce84fdb	g.chr1:66102486G>A	ENST00000349533.6	+	20	3471	c.3286G>A	c.(3286-3288)Gac>Aac	p.D1096N	LEPR_ENST00000406510.3_Missense_Mutation_p.D163N	NM_002303.5	NP_002294.2	P48357	LEPR_HUMAN	leptin receptor	1096					energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		GCTTTTGACTGACAAGTCAAG	0.403													4	111					0	0	1	0	0	A	66102486	G	A	66102486	3	1	451	1	0	0	0	0	1	0	0	0	8767	1290	45	2	3586	2	LEPR	1	66102486	Missense_Mutation	SNP	G	TCGA-S9-A7R3-01A-11D-A34J-08		66102486	183148135	1	35783											
PLXNA2	5362	broad.mit.edu	37	1	208390748	208390748	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7R3-01A-11D-A34J-08	TCGA-S9-A7R3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c66180f-e749-4b77-8f69-5ec01afae762	05a08903-42bb-4a25-a14e-9f0e3ce84fdb	g.chr1:208390748G>A	ENST00000367033.3	-	2	1277	c.520C>T	c.(520-522)Cgc>Tgc	p.R174C		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	174	Sema.				axon guidance	integral to membrane|intracellular|plasma membrane		p.R174C(1)		NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		CCCTCAGAGCGCACAATCACC	0.602													6	311					0	0	1	0	0	A	208390748	G	A	208390748	3	1	451	1	0	0	0	0	1	0	0	0	12168	1087	38	1	5288	1	PLXNA2	1	208390748	Missense_Mutation	SNP	G	TCGA-S9-A7R3-01A-11D-A34J-08	142288262	208390748	40859873	2	35784											
OR2T33	391195	broad.mit.edu	37	1	248437112	248437112	+	Frame_Shift_Del	DEL	T	T	-			TCGA-S9-A7R3-01A-11D-A34J-08	TCGA-S9-A7R3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c66180f-e749-4b77-8f69-5ec01afae762	05a08903-42bb-4a25-a14e-9f0e3ce84fdb	g.chr1:248437112delT	ENST00000318021.2	-	1	26	c.5delA	c.(4-6)gagfs	p.E2fs		NM_001004695.1	NP_001004695.1	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T, member 33	2					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			ATTTCTCATCTCCATAATTTC	0.428													8	155	---	---	---	---						-	248437112	T	-	248437112	7	5	451	1	0	1	0	1	0	0	0	0	11072	1551	54	0	960	0	OR2T33	1	248437112	Frame_Shift_Del	DEL	T	TCGA-S9-A7R3-01A-11D-A34J-08	40046364	248437112	813509	3	35785											
HTRA2	27429	broad.mit.edu	37	2	74757848	74757848	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7R3-01A-11D-A34J-08	TCGA-S9-A7R3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c66180f-e749-4b77-8f69-5ec01afae762	05a08903-42bb-4a25-a14e-9f0e3ce84fdb	g.chr2:74757848G>A	ENST00000258080.3	+	2	1241	c.611G>A	c.(610-612)cGc>cAc	p.R204H	HTRA2_ENST00000467961.1_3'UTR|HTRA2_ENST00000352222.3_Missense_Mutation_p.R204H	NM_013247.4	NP_037379.1	O43464	HTRA2_HUMAN	HtrA serine peptidase 2	204	Serine protease.				apoptosis|proteolysis|response to stress	CD40 receptor complex|endoplasmic reticulum membrane|internal side of plasma membrane|mitochondrial intermembrane space|mitochondrial membrane|nucleus	serine-type endopeptidase activity|unfolded protein binding			endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	12						GCTGATCGGCGCAGAGTCCGT	0.602													4	113					0	0	1	0	0	A	74757848	G	A	74757848	3	1	451	1	0	0	0	0	1	0	0	0	7498	1087	38	1	617	1	HTRA2	2	74757848	Missense_Mutation	SNP	G	TCGA-S9-A7R3-01A-11D-A34J-08		74757848	168441525	4	35786											
MERTK	10461	broad.mit.edu	37	2	112777033	112777033	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A7R3-01A-11D-A34J-08	TCGA-S9-A7R3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c66180f-e749-4b77-8f69-5ec01afae762	05a08903-42bb-4a25-a14e-9f0e3ce84fdb	g.chr2:112777033C>T	ENST00000295408.4	+	16	2380	c.2123C>T	c.(2122-2124)gCc>gTc	p.A708V	MERTK_ENST00000409780.1_Missense_Mutation_p.A532V|MERTK_ENST00000421804.2_Missense_Mutation_p.A708V			Q12866	MERTK_HUMAN	c-mer proto-oncogene tyrosine kinase	708	Protein kinase.		A -> S (in a head & Neck squamous cell carcinoma sample; somatic mutation).		cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						GTGGATATTGCCCTGGGAATG	0.413													5	285					0	0	1	0	0	T	112777033	C	T	112777033	3	4	451	1	0	0	0	0	1	0	0	0	9529	739	26	2	2185	2	MERTK	2	112777033	Missense_Mutation	SNP	C	TCGA-S9-A7R3-01A-11D-A34J-08	38019185	112777033	130422340	5	35787											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-S9-A7R3-01A-11D-A34J-08	TCGA-S9-A7R3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c66180f-e749-4b77-8f69-5ec01afae762	05a08903-42bb-4a25-a14e-9f0e3ce84fdb	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	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								60	81					0	0	1	0	0	T	209113112	C	T	209113112	3	4	451	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-S9-A7R3-01A-11D-A34J-08	96336079	209113112	34086261	6	35788											
SCN10A	6336	broad.mit.edu	37	3	38748793	38748793	+	Missense_Mutation	SNP	G	G	T			TCGA-S9-A7R3-01A-11D-A34J-08	TCGA-S9-A7R3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c66180f-e749-4b77-8f69-5ec01afae762	05a08903-42bb-4a25-a14e-9f0e3ce84fdb	g.chr3:38748793G>T	ENST00000449082.2	-	25	4362	c.4363C>A	c.(4363-4365)Cag>Aag	p.Q1455K		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1455					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	ATGGGCTTCTGGGGCTTCTTG	0.557													16	60					8.00594e-06	8.27733e-06	1	1	0	T	38748793	G	T	38748793	3	4	451	1	0	0	0	0	1	0	0	0	13966	1357	47	5	1519	5	SCN10A	3	38748793	Missense_Mutation	SNP	G	TCGA-S9-A7R3-01A-11D-A34J-08		38748793	159273637	7	35789											
NDST4	64579	broad.mit.edu	37	4	115898356	115898356	+	Missense_Mutation	SNP	C	C	G			TCGA-S9-A7R3-01A-11D-A34J-08	TCGA-S9-A7R3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c66180f-e749-4b77-8f69-5ec01afae762	05a08903-42bb-4a25-a14e-9f0e3ce84fdb	g.chr4:115898356C>G	ENST00000264363.2	-	3	1731	c.1053G>C	c.(1051-1053)aaG>aaC	p.K351N		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	351	Heparan sulfate N-deacetylase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		TGTGGTAAAACTTCCCTGAAA	0.343													78	141					0	0	1	0	0	G	115898356	C	G	115898356	3	3	451	1	0	0	0	0	1	0	0	0	10305	564	20	4	1613	4	NDST4	4	115898356	Missense_Mutation	SNP	C	TCGA-S9-A7R3-01A-11D-A34J-08		115898356	75255920	8	35790											
FGA	2243	broad.mit.edu	37	4	155508066	155508066	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A7R3-01A-11D-A34J-08	TCGA-S9-A7R3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c66180f-e749-4b77-8f69-5ec01afae762	05a08903-42bb-4a25-a14e-9f0e3ce84fdb	g.chr4:155508066T>C	ENST00000302053.3	-	5	593	c.515A>G	c.(514-516)gAc>gGc	p.D172G	FGA_ENST00000403106.3_Missense_Mutation_p.D172G	NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	172					platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	AATATCAATGTCCACCTAGAG	0.388													31	62					0	0	1	0	0	C	155508066	T	C	155508066	3	2	451	1	0	0	0	0	1	0	0	0	5863	1667	58	3	2137	3	FGA	4	155508066	Missense_Mutation	SNP	T	TCGA-S9-A7R3-01A-11D-A34J-08	39609710	155508066	35646210	9	35791											
FCHO2	115548	broad.mit.edu	37	5	72383519	72383519	+	Silent	SNP	A	A	G			TCGA-S9-A7R3-01A-11D-A34J-08	TCGA-S9-A7R3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c66180f-e749-4b77-8f69-5ec01afae762	05a08903-42bb-4a25-a14e-9f0e3ce84fdb	g.chr5:72383519A>G	ENST00000430046.2	+	25	2465	c.2349A>G	c.(2347-2349)gtA>gtG	p.V783V	FCHO2_ENST00000341845.6_Silent_p.V783V|FCHO2_ENST00000512348.1_Silent_p.V750V	NM_001146032.1|NM_138782.2	NP_001139504.1|NP_620137.2	Q0JRZ9	FCHO2_HUMAN	FCH domain only 2	783										cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(1)	17		Lung NSC(167;0.0465)|Ovarian(174;0.0908)|Prostate(461;0.165)		OV - Ovarian serous cystadenocarcinoma(47;4.6e-53)		TTTCAGGAGTAGATTTCGAAC	0.438													43	124					0	0	1	0	0	G	72383519	A	G	72383519	2	3	451	1	0	0	0	0	0	0	0	1	5821	407	15	3		3	FCHO2	5	72383519	Silent	SNP	A	TCGA-S9-A7R3-01A-11D-A34J-08		72383519	108531741	10	35792											
DCBLD1	285761	broad.mit.edu	37	6	117861894	117861894	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7R3-01A-11D-A34J-08	TCGA-S9-A7R3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c66180f-e749-4b77-8f69-5ec01afae762	05a08903-42bb-4a25-a14e-9f0e3ce84fdb	g.chr6:117861894G>A	ENST00000338728.5	+	10	1285	c.1165G>A	c.(1165-1167)Gcc>Acc	p.A389T	DCBLD1_ENST00000534777.1_3'UTR|DCBLD1_ENST00000296955.8_Missense_Mutation_p.A389T|GOPC_ENST00000467125.1_Intron|DCBLD1_ENST00000368503.4_Intron			Q8N8Z6	DCBD1_HUMAN	discoidin, CUB and LCCL domain containing 1	389	F5/8 type C.				cell adhesion	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	26		all_cancers(87;0.171)		GBM - Glioblastoma multiforme(226;0.0447)|OV - Ovarian serous cystadenocarcinoma(136;0.0921)|all cancers(137;0.125)		TCCCATCGTGGCCAGATATGT	0.473													38	117					0	0	1	0	0	A	117861894	G	A	117861894	3	1	451	1	0	0	0	0	1	0	0	0	4303	1203	42	2	1203	2	DCBLD1	6	117861894	Missense_Mutation	SNP	G	TCGA-S9-A7R3-01A-11D-A34J-08		117861894	53253173	11	35793											
CNKSR3	154043	broad.mit.edu	37	6	154743663	154743663	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7R3-01A-11D-A34J-08	TCGA-S9-A7R3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c66180f-e749-4b77-8f69-5ec01afae762	05a08903-42bb-4a25-a14e-9f0e3ce84fdb	g.chr6:154743663G>A	ENST00000607772.1	-	9	1466	c.922C>T	c.(922-924)Cgg>Tgg	p.R308W	CNKSR3_ENST00000479339.1_Missense_Mutation_p.R228W|CNKSR3_ENST00000433165.2_Missense_Mutation_p.R133W	NM_173515.2	NP_775786.2	Q6P9H4	CNKR3_HUMAN	CNKSR family member 3	308					negative regulation of ERK1 and ERK2 cascade|negative regulation of peptidyl-serine phosphorylation|positive regulation of sodium ion transport	cytoplasm|membrane				breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	15		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;5.03e-11)|BRCA - Breast invasive adenocarcinoma(81;0.00627)		GGCTTCCACCGTAGGTTTTTC	0.443													5	177					0	0	1	0	0	A	154743663	G	A	154743663	3	1	451	1	0	0	0	0	1	0	0	0	3631	1144	40	1	765	1	CNKSR3	6	154743663	Missense_Mutation	SNP	G	TCGA-S9-A7R3-01A-11D-A34J-08	36881769	154743663	16371404	12	35794											
STAG3L2	442582	broad.mit.edu	37	7	74300804	74300804	+	RNA	DEL	A	A	-			TCGA-S9-A7R3-01A-11D-A34J-08	TCGA-S9-A7R3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c66180f-e749-4b77-8f69-5ec01afae762	05a08903-42bb-4a25-a14e-9f0e3ce84fdb	g.chr7:74300804delA	ENST00000423186.1	-	0	499							P0CL84	ST3L2_HUMAN								nucleus	binding			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)|pancreas(1)	5						CTTCATACTTAAAAAAAAAAA	0.458													5	7	---	---	---	---						-	74300804	A	-	74300804	6	5	451	0	1	1	0	1	0	0	0	0	15301	377	13	0		0	STAG3L2	7	74300804	RNA	DEL	A	TCGA-S9-A7R3-01A-11D-A34J-08		74300804	84837859	13	35795											
IFNA21	3452	broad.mit.edu	37	9	21166307	21166307	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A7R3-01A-11D-A34J-08	TCGA-S9-A7R3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c66180f-e749-4b77-8f69-5ec01afae762	05a08903-42bb-4a25-a14e-9f0e3ce84fdb	g.chr9:21166307T>C	ENST00000380225.1	-	1	352	c.305A>G	c.(304-306)cAg>cGg	p.Q102R		NM_002175.2	NP_002166.2	P01568	IFN21_HUMAN	interferon, alpha 21	102					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(3)	14				GBM - Glioblastoma multiforme(5;1.93e-187)|Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		TAGGAGGCTCTGTTCCCAAGT	0.498													46	180					0	0	1	0	0	C	21166307	T	C	21166307	3	2	451	1	0	0	0	0	1	0	0	0	7582	1580	55	3	268	3	IFNA21	9	21166307	Missense_Mutation	SNP	T	TCGA-S9-A7R3-01A-11D-A34J-08		21166307	120047124	14	35796											
TDRD7	23424	broad.mit.edu	37	9	100190781	100190781	+	Nonsense_Mutation	SNP	C	C	T			TCGA-S9-A7R3-01A-11D-A34J-08	TCGA-S9-A7R3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c66180f-e749-4b77-8f69-5ec01afae762	05a08903-42bb-4a25-a14e-9f0e3ce84fdb	g.chr9:100190781C>T	ENST00000355295.4	+	2	329	c.34C>T	c.(34-36)Cga>Tga	p.R12*	TDRD7_ENST00000422139.2_Intron	NM_014290.2	NP_055105.2	Q8NHU6	TDRD7_HUMAN	tudor domain containing 7	12	Lotus/OST-HTH 1.				lens fiber cell differentiation|lens morphogenesis in camera-type eye|posttranscriptional regulation of gene expression|spermatogenesis	chromatoid body	mRNA binding			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Acute lymphoblastic leukemia(62;0.158)				AAAGATGCTACGAGCTGTTCT	0.438													32	61					0	0	1	0	0	T	100190781	C	T	100190781	4	4	451	1	0	0	0	0	0	1	0	0	15794	528	19	1	36	1	TDRD7	9	100190781	Nonsense_Mutation	SNP	C	TCGA-S9-A7R3-01A-11D-A34J-08	79024474	100190781	41022650	15	35797											
MRPL50	54534	broad.mit.edu	37	9	104152867	104152867	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A7R3-01A-11D-A34J-08	TCGA-S9-A7R3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c66180f-e749-4b77-8f69-5ec01afae762	05a08903-42bb-4a25-a14e-9f0e3ce84fdb	g.chr9:104152867T>C	ENST00000374865.4	-	2	379	c.358A>G	c.(358-360)Atg>Gtg	p.M120V	MRPL50_ENST00000539624.1_Missense_Mutation_p.M120V	NM_019051.2	NP_061924.1	Q8N5N7	RM50_HUMAN	mitochondrial ribosomal protein L50	120						mitochondrion|ribosome				large_intestine(1)|lung(2)|prostate(2)	5		Acute lymphoblastic leukemia(62;0.0559)				ACCCTGCACATCTGGTGGAGT	0.423													49	111					0	0	1	0	0	C	104152867	T	C	104152867	3	2	451	1	0	0	0	0	1	0	0	0	9863	1435	50	3	122	3	MRPL50	9	104152867	Missense_Mutation	SNP	T	TCGA-S9-A7R3-01A-11D-A34J-08	3962086	104152867	37060564	16	35798											
SPTAN1	6709	broad.mit.edu	37	9	131353798	131353798	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A7R3-01A-11D-A34J-08	TCGA-S9-A7R3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c66180f-e749-4b77-8f69-5ec01afae762	05a08903-42bb-4a25-a14e-9f0e3ce84fdb	g.chr9:131353798C>T	ENST00000372739.3	+	22	3159	c.3049C>T	c.(3049-3051)Ccg>Tcg	p.P1017S	SPTAN1_ENST00000372731.4_Missense_Mutation_p.P1017S|SPTAN1_ENST00000358161.5_Missense_Mutation_p.P1017S	NM_001130438.2	NP_001123910.1	Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	1017	SH3.		P -> S (in a breast cancer sample; somatic mutation).		actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton	p.P1017S(1)		NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						GGGTTTTGTGCCGGCTGCGTA	0.522													5	231					0	0	1	0	0	T	131353798	C	T	131353798	3	4	451	1	0	0	0	0	1	0	0	0	15173	739	26	2	3131	2	SPTAN1	9	131353798	Missense_Mutation	SNP	C	TCGA-S9-A7R3-01A-11D-A34J-08	27200931	131353798	9859633	17	35799											
PDCD11	22984	broad.mit.edu	37	10	105178345	105178345	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A7R3-01A-11D-A34J-08	TCGA-S9-A7R3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c66180f-e749-4b77-8f69-5ec01afae762	05a08903-42bb-4a25-a14e-9f0e3ce84fdb	g.chr10:105178345A>G	ENST00000369797.3	+	15	2154	c.2060A>G	c.(2059-2061)gAc>gGc	p.D687G		NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	687	S1 motif 7.				mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		CAGGCAGGTGACATCCTTCAC	0.582													53	70					0	0	1	0	0	G	105178345	A	G	105178345	3	3	451	1	0	0	0	0	1	0	0	0	11664	275	10	3	2114	3	PDCD11	10	105178345	Missense_Mutation	SNP	A	TCGA-S9-A7R3-01A-11D-A34J-08		105178345	30356402	18	35800											
ART1	417	broad.mit.edu	37	11	3680945	3680945	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A7R3-01A-11D-A34J-08	TCGA-S9-A7R3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c66180f-e749-4b77-8f69-5ec01afae762	05a08903-42bb-4a25-a14e-9f0e3ce84fdb	g.chr11:3680945C>T	ENST00000250693.1	+	3	297	c.196C>T	c.(196-198)Cac>Tac	p.H66Y		NM_004314.2	NP_004305.2	P52961	NAR1_HUMAN	ADP-ribosyltransferase 1	66					protein ADP-ribosylation	anchored to membrane|integral to plasma membrane|sarcoplasmic reticulum membrane	NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity			endometrium(1)|large_intestine(2)|liver(1)|lung(3)|skin(1)	8		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0351)|LUSC - Lung squamous cell carcinoma(625;0.195)	Becaplermin(DB00102)	GGATCTCAACCACACGGAGTT	0.592													11	37					0	0	1	0	0	T	3680945	C	T	3680945	3	4	451	1	0	0	0	0	1	0	0	0	996	594	21	2	202	2	ART1	11	3680945	Missense_Mutation	SNP	C	TCGA-S9-A7R3-01A-11D-A34J-08		3680945	131325571	19	35801											
NINJ2	4815	broad.mit.edu	37	12	772646	772646	+	Missense_Mutation	SNP	G	G	T			TCGA-S9-A7R3-01A-11D-A34J-08	TCGA-S9-A7R3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c66180f-e749-4b77-8f69-5ec01afae762	05a08903-42bb-4a25-a14e-9f0e3ce84fdb	g.chr12:772646G>T	ENST00000305108.4	-	1	299	c.19C>A	c.(19-21)Cag>Aag	p.Q7K	RP11-218M22.1_ENST00000543884.1_RNA	NM_016533.4	NP_057617.2	Q9NZG7	NINJ2_HUMAN	ninjurin 2	0					nervous system development|neuron cell-cell adhesion|tissue regeneration	integral to plasma membrane				large_intestine(3)|lung(1)|ovary(2)	6	all_cancers(10;0.0101)|all_epithelial(11;0.0174)|Ovarian(42;0.0512)|all_lung(10;0.103)|Lung NSC(10;0.185)		OV - Ovarian serous cystadenocarcinoma(31;3.26e-05)|BRCA - Breast invasive adenocarcinoma(9;0.0508)			GCACACAGCTGGCGGGACAGA	0.627													21	127					5.26018e-13	5.62931e-13	1	1	0	T	772646	G	T	772646	3	4	451	1	0	0	0	0	1	0	0	0	10466	1357	47	5	559	5	NINJ2	12	772646	Missense_Mutation	SNP	G	TCGA-S9-A7R3-01A-11D-A34J-08		772646	133079249	20	35802											
ERC1	23085	broad.mit.edu	37	12	1137520	1137520	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A7R3-01A-11D-A34J-08	TCGA-S9-A7R3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c66180f-e749-4b77-8f69-5ec01afae762	05a08903-42bb-4a25-a14e-9f0e3ce84fdb	g.chr12:1137520A>G	ENST00000397203.2	+	2	857	c.451A>G	c.(451-453)Atc>Gtc	p.I151V	ERC1_ENST00000355446.5_Missense_Mutation_p.I151V|ERC1_ENST00000360905.4_Missense_Mutation_p.I151V|ERC1_ENST00000543086.3_Missense_Mutation_p.I151V|ERC1_ENST00000589028.1_Missense_Mutation_p.I151V|ERC1_ENST00000546231.2_Missense_Mutation_p.I151V			Q8IUD2	RB6I2_HUMAN	ELKS/RAB6-interacting/CAST family member 1	151					I-kappaB phosphorylation|multicellular organismal development|positive regulation of anti-apoptosis|positive regulation of NF-kappaB transcription factor activity|protein transport	Golgi membrane|IkappaB kinase complex|presynaptic membrane	leucine zipper domain binding			NS(1)|breast(2)|cervix(2)|endometrium(2)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_epithelial(11;0.0698)|Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567)			AGATAACACAATCATGGATCT	0.458													8	169					0	0	1	0	0	G	1137520	A	G	1137520	3	3	451	1	0	0	0	0	1	0	0	0	5238	101	4	3	453	3	ERC1	12	1137520	Missense_Mutation	SNP	A	TCGA-S9-A7R3-01A-11D-A34J-08	364874	1137520	132714375	21	35803											
PRMT8	56341	broad.mit.edu	37	12	3692311	3692311	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7R3-01A-11D-A34J-08	TCGA-S9-A7R3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c66180f-e749-4b77-8f69-5ec01afae762	05a08903-42bb-4a25-a14e-9f0e3ce84fdb	g.chr12:3692311G>A	ENST00000382622.3	+	8	1306	c.916G>A	c.(916-918)Gcc>Acc	p.A306T	PRMT8_ENST00000261252.4_3'UTR|PRMT8_ENST00000452611.2_Missense_Mutation_p.A297T	NM_019854.4	NP_062828.3	Q9NR22	ANM8_HUMAN	protein arginine methyltransferase 8	306					regulation of protein binding	cytoplasm|plasma membrane	histone-arginine N-methyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity	p.A306T(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264)			CTACGTCCACGCCCTGGTCAC	0.498													11	54					0	0	1	0	0	A	3692311	G	A	3692311	3	1	451	1	0	0	0	0	1	0	0	0	12594	1087	38	1	946	1	PRMT8	12	3692311	Missense_Mutation	SNP	G	TCGA-S9-A7R3-01A-11D-A34J-08	2554791	3692311	130159584	22	35804											
PDE3A	5139	broad.mit.edu	37	12	20769226	20769226	+	Silent	SNP	C	C	A			TCGA-S9-A7R3-01A-11D-A34J-08	TCGA-S9-A7R3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c66180f-e749-4b77-8f69-5ec01afae762	05a08903-42bb-4a25-a14e-9f0e3ce84fdb	g.chr12:20769226C>A	ENST00000359062.3	+	4	1372	c.1332C>A	c.(1330-1332)acC>acA	p.T444T	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	444	Poly-Thr.				lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	GGACCACCACCACCTCGGCCA	0.532													4	126					0.217242	0.217242	1	1	0	A	20769226	C	A	20769226	2	1	451	1	0	0	0	0	0	0	0	1	11684	581	21	5		5	PDE3A	12	20769226	Silent	SNP	C	TCGA-S9-A7R3-01A-11D-A34J-08	17076915	20769226	113082669	23	35805											
TP53	7157	broad.mit.edu	37	17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	rs121913343		TCGA-S9-A7R3-01A-11D-A34J-08	TCGA-S9-A7R3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c66180f-e749-4b77-8f69-5ec01afae762	05a08903-42bb-4a25-a14e-9f0e3ce84fdb	g.chr17:7577121G>A	ENST00000420246.2	-	8	949	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000269305.4_Missense_Mutation_p.R273C|TP53_ENST00000359597.4_Missense_Mutation_p.R273C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	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).		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.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			38	7					0	0	1	0	0	A	7577121	G	A	7577121	3	1	451	1	0	0	0	0	1	0	0	0	16442	1087	38	1	469	1	TP53	17	7577121	Missense_Mutation	SNP	G	TCGA-S9-A7R3-01A-11D-A34J-08		7577121	73618089	24	35806											
WDR16	146845	broad.mit.edu	37	17	9503430	9503430	+	Missense_Mutation	SNP	A	A	C			TCGA-S9-A7R3-01A-11D-A34J-08	TCGA-S9-A7R3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c66180f-e749-4b77-8f69-5ec01afae762	05a08903-42bb-4a25-a14e-9f0e3ce84fdb	g.chr17:9503430A>C	ENST00000352665.5	+	6	752	c.683A>C	c.(682-684)gAt>gCt	p.D228A	WDR16_ENST00000396219.3_Missense_Mutation_p.D160A|WDR16_ENST00000299764.5_Missense_Mutation_p.D238A	NM_145054.4	NP_659491.4	Q8N1V2	WDR16_HUMAN	WD repeat domain 16	228						cytoplasm|intracellular membrane-bounded organelle	protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31						ACGACTGGAGATATTCTAAAA	0.488													143	200					0	0	1	0	0	C	9503430	A	C	9503430	3	2	451	1	0	0	0	0	1	0	0	0	17336	333	12	4	705	4	WDR16	17	9503430	Missense_Mutation	SNP	A	TCGA-S9-A7R3-01A-11D-A34J-08	1926309	9503430	71691780	25	35807											
CDC27	996	broad.mit.edu	37	17	45216210	45216210	+	Silent	SNP	A	A	C	rs62075659		TCGA-S9-A7R3-01A-11D-A34J-08	TCGA-S9-A7R3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c66180f-e749-4b77-8f69-5ec01afae762	05a08903-42bb-4a25-a14e-9f0e3ce84fdb	g.chr17:45216210A>C	ENST00000066544.3	-	13	1692	c.1599T>G	c.(1597-1599)gtT>gtG	p.V533V	CDC27_ENST00000531206.1_Silent_p.V539V|CDC27_ENST00000446365.2_Silent_p.V472V|CDC27_ENST00000527547.1_Silent_p.V532V	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	533					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding	p.V533V(1)|p.V539V(1)		NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						CCATGCCTTCAACTCTATAAT	0.318													4	85					0	0	1	0	0	C	45216210	A	C	45216210	2	2	451	1	0	0	0	0	0	0	0	1	3088	117	5	5		5	CDC27	17	45216210	Silent	SNP	A	TCGA-S9-A7R3-01A-11D-A34J-08	35712780	45216210	35979000	26	35808											
TANC2	26115	broad.mit.edu	37	17	61482567	61482567	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7R3-01A-11D-A34J-08	TCGA-S9-A7R3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c66180f-e749-4b77-8f69-5ec01afae762	05a08903-42bb-4a25-a14e-9f0e3ce84fdb	g.chr17:61482567G>A	ENST00000424789.2	+	18	3198	c.3194G>A	c.(3193-3195)cGc>cAc	p.R1065H	RP11-269G24.3_ENST00000583552.1_RNA|TANC2_ENST00000389520.4_Missense_Mutation_p.R1065H|AC015923.1_ENST00000431604.1_RNA	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	1065							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						CAGCCAAACCGCCGAGGAGCA	0.617													4	30					0	0	1	0	0	A	61482567	G	A	61482567	3	1	451	1	0	0	0	0	1	0	0	0	15602	1087	38	1	3264	1	TANC2	17	61482567	Missense_Mutation	SNP	G	TCGA-S9-A7R3-01A-11D-A34J-08	16266357	61482567	19712643	27	35809											
CTAGE1	64693	broad.mit.edu	37	18	19997008	19997008	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7R3-01A-11D-A34J-08	TCGA-S9-A7R3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c66180f-e749-4b77-8f69-5ec01afae762	05a08903-42bb-4a25-a14e-9f0e3ce84fdb	g.chr18:19997008G>A	ENST00000391403.2	-	1	870	c.767C>T	c.(766-768)aCg>aTg	p.T256M		NM_172241.2	NP_758441.2	Q96RT6	CTGE2_HUMAN	cutaneous T-cell lymphoma-associated antigen 1	256						integral to membrane				cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1)	27	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)					ATCATCATCCGTTACATCTTC	0.373													12	191					0	0	1	0	0	A	19997008	G	A	19997008	3	1	451	1	0	0	0	0	1	0	0	0	4017	1145	40	1	1474	1	CTAGE1	18	19997008	Missense_Mutation	SNP	G	TCGA-S9-A7R3-01A-11D-A34J-08		19997008	58080240	28	35810											
MYO5B	4645	broad.mit.edu	37	18	47367798	47367798	+	Silent	SNP	C	C	T			TCGA-S9-A7R3-01A-11D-A34J-08	TCGA-S9-A7R3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c66180f-e749-4b77-8f69-5ec01afae762	05a08903-42bb-4a25-a14e-9f0e3ce84fdb	g.chr18:47367798C>T	ENST00000285039.7	-	35	4937	c.4638G>A	c.(4636-4638)acG>acA	p.T1546T	MYO5B_ENST00000592688.1_Silent_p.T116T|MYO5B_ENST00000324581.6_Silent_p.T661T|SCARNA17_ENST00000589499.1_RNA	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	1546	Dilute.				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		ACCAGAATGACGTCATCTCAA	0.522													83	155					0	0	1	0	0	T	47367798	C	T	47367798	2	4	451	1	0	0	0	0	0	0	0	1	10127	523	19	1		1	MYO5B	18	47367798	Silent	SNP	C	TCGA-S9-A7R3-01A-11D-A34J-08	27370790	47367798	30709450	29	35811											
CBLN2	147381	broad.mit.edu	37	18	70205466	70205466	+	Missense_Mutation	SNP	A	A	T			TCGA-S9-A7R3-01A-11D-A34J-08	TCGA-S9-A7R3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c66180f-e749-4b77-8f69-5ec01afae762	05a08903-42bb-4a25-a14e-9f0e3ce84fdb	g.chr18:70205466A>T	ENST00000269503.4	-	5	1393	c.620T>A	c.(619-621)cTc>cAc	p.L207H	CBLN2_ENST00000585159.1_Missense_Mutation_p.L207H|CBLN2_ENST00000584764.1_Missense_Mutation_p.L91H|CBLN2_ENST00000581073.1_Missense_Mutation_p.L93H|CBLN2_ENST00000583651.1_5'UTR	NM_182511.3	NP_872317.1	Q8IUK8	CBLN2_HUMAN	cerebellin 2 precursor	207	C1q.					integral to membrane				endometrium(2)|lung(15)	17		Esophageal squamous(42;0.131)				GCCCCCCATGAGGTTGCCTCT	0.532													93	107					0	0	1	0	0	T	70205466	A	T	70205466	3	4	451	1	0	0	0	0	1	0	0	0	2723	304	11	5	58	5	CBLN2	18	70205466	Missense_Mutation	SNP	A	TCGA-S9-A7R3-01A-11D-A34J-08	22837668	70205466	7871782	30	35812											
PPAN-P2RY11	692312	broad.mit.edu	37	19	10224393	10224395	+	In_Frame_Del	DEL	TGG	TGG	-			TCGA-S9-A7R3-01A-11D-A34J-08	TCGA-S9-A7R3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c66180f-e749-4b77-8f69-5ec01afae762	05a08903-42bb-4a25-a14e-9f0e3ce84fdb	g.chr19:10224393_10224395delTGG	ENST00000428358.1	+	13	1598_1600	c.1426_1428delTGG	c.(1426-1428)tggdel	p.W477del	P2RY11_ENST00000321826.4_In_Frame_Del_p.V37del|P2RY11_ENST00000471843.1_3'UTR|PPAN_ENST00000556468.1_In_Frame_Del_p.V457del|PPAN-P2RY11_ENST00000393796.4_In_Frame_Del_p.V457del	NM_001040664.2|NM_001198690.1	NP_001035754.1|NP_001185619.1	Q9NQ55	SSF1_HUMAN		0					RNA splicing	nucleolus	protein binding			breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	31			OV - Ovarian serous cystadenocarcinoma(20;2.19e-08)|Epithelial(33;1.76e-05)|all cancers(31;3.54e-05)			TGGCCCATACTGGTGGTTGAGTT	0.631											OREG0025230	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	84	---	---	---	---						-	10224395	TGG	-	10224393	7	5	451	1	0	1	0	1	0	0	0	0	12334	1580	55	0		0	PPAN-P2RY11	19	10224393	In_Frame_Del	DEL	TGG	TCGA-S9-A7R3-01A-11D-A34J-08		10224393	48904590	31	35813											
LIPE	3991	broad.mit.edu	37	19	42930686	42930686	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A7R3-01A-11D-A34J-08	TCGA-S9-A7R3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c66180f-e749-4b77-8f69-5ec01afae762	05a08903-42bb-4a25-a14e-9f0e3ce84fdb	g.chr19:42930686A>G	ENST00000244289.4	-	1	892	c.616T>C	c.(616-618)Ttt>Ctt	p.F206L	LIPE-AS1_ENST00000594688.1_RNA|LIPE-AS1_ENST00000594624.2_RNA|LIPE-AS1_ENST00000593740.2_RNA|LIPE-AS1_ENST00000597203.1_RNA|LIPE-AS1_ENST00000457234.2_RNA	NM_005357.2	NP_005348.2	Q05469	LIPS_HUMAN	lipase, hormone-sensitive	206					cholesterol metabolic process|protein phosphorylation|triglyceride catabolic process	caveola|cytosol	hormone-sensitive lipase activity|protein binding			breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		Prostate(69;0.00682)				TTTGTTAGAAATCCCAGCTCT	0.488													50	64					0	0	1	0	0	G	42930686	A	G	42930686	3	3	451	1	0	0	0	0	1	0	0	0	8862	101	4	3	2654	3	LIPE	19	42930686	Missense_Mutation	SNP	A	TCGA-S9-A7R3-01A-11D-A34J-08	32706293	42930686	16198297	32	35814											
C21orf91	54149	broad.mit.edu	37	21	19190530	19190530	+	Frame_Shift_Del	DEL	A	A	-			TCGA-S9-A7R3-01A-11D-A34J-08	TCGA-S9-A7R3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c66180f-e749-4b77-8f69-5ec01afae762	05a08903-42bb-4a25-a14e-9f0e3ce84fdb	g.chr21:19190530delA	ENST00000284881.4	-	2	196	c.106delT	c.(106-108)tgtfs	p.C36fs	C21orf91_ENST00000400558.3_Frame_Shift_Del_p.C36fs|C21orf91_ENST00000400559.3_Frame_Shift_Del_p.C36fs|C21orf91_ENST00000493464.1_5'UTR	NM_001100420.1|NM_017447.3	NP_001093890.1|NP_059143.3	Q9NYK6	EURL_HUMAN	chromosome 21 open reading frame 91	36										endometrium(2)|large_intestine(2)|lung(4)|ovary(1)	9				Epithelial(23;8.76e-05)|all cancers(11;0.000422)|OV - Ovarian serous cystadenocarcinoma(11;0.0107)|Lung(58;0.0129)|COAD - Colon adenocarcinoma(22;0.0303)|LUSC - Lung squamous cell carcinoma(23;0.0381)|Colorectal(24;0.0929)		AGCTCAAAACAAATGTGGCAG	0.353													56	122	---	---	---	---						-	19190530	A	-	19190530	7	5	451	1	0	1	0	1	0	0	0	0	2148	130	5	0	803	0	C21orf91	21	19190530	Frame_Shift_Del	DEL	A	TCGA-S9-A7R3-01A-11D-A34J-08		19190530	28939365	33	35815											
FAM3B	54097	broad.mit.edu	37	21	42694963	42694963	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A7R3-01A-11D-A34J-08	TCGA-S9-A7R3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c66180f-e749-4b77-8f69-5ec01afae762	05a08903-42bb-4a25-a14e-9f0e3ce84fdb	g.chr21:42694963C>T	ENST00000398652.3	+	3	316	c.250C>T	c.(250-252)Cgc>Tgc	p.R84C	FAM3B_ENST00000398646.3_Missense_Mutation_p.R68C|FAM3B_ENST00000398647.3_Intron|FAM3B_ENST00000479810.2_3'UTR|FAM3B_ENST00000357985.2_Missense_Mutation_p.R45C			P58499	FAM3B_HUMAN	family with sequence similarity 3, member B	45					apoptosis|insulin secretion	extracellular space	cytokine activity			central_nervous_system(2)|endometrium(1)|lung(2)	5		Prostate(19;1.57e-07)|all_epithelial(19;0.0404)				CTATAGCATCCGCAGCATCGG	0.602													36	74					0	0	1	0	0	T	42694963	C	T	42694963	3	4	451	1	0	0	0	0	1	0	0	0	5593	652	23	1	139	1	FAM3B	21	42694963	Missense_Mutation	SNP	C	TCGA-S9-A7R3-01A-11D-A34J-08	23504433	42694963	5434932	34	35816											
CCT8L2	150160	broad.mit.edu	37	22	17073284	17073284	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7R3-01A-11D-A34J-08	TCGA-S9-A7R3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c66180f-e749-4b77-8f69-5ec01afae762	05a08903-42bb-4a25-a14e-9f0e3ce84fdb	g.chr22:17073284G>A	ENST00000359963.3	-	1	416	c.157C>T	c.(157-159)Ccc>Tcc	p.P53S		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	53					cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity			breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				CGGCCGTGGGGGCCATAGCAA	0.642													63	80					0	0	1	0	0	A	17073284	G	A	17073284	3	1	451	1	0	0	0	0	1	0	0	0	2983	1232	43	2	1520	2	CCT8L2	22	17073284	Missense_Mutation	SNP	G	TCGA-S9-A7R3-01A-11D-A34J-08		17073284	34231282	35	35817											
ZNF280C	55609	broad.mit.edu	37	X	129370584	129370584	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7R3-01A-11D-A34J-08	TCGA-S9-A7R3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c66180f-e749-4b77-8f69-5ec01afae762	05a08903-42bb-4a25-a14e-9f0e3ce84fdb	g.chrX:129370584G>A	ENST00000370978.4	-	7	676	c.523C>T	c.(523-525)Cat>Tat	p.H175Y		NM_017666.4	NP_060136.1	Q8ND82	Z280C_HUMAN	zinc finger protein 280C	175	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(4)|large_intestine(9)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	26						GTAGAAGGATGTTTCAACACA	0.308													44	68					0	0	1	0	0	A	129370584	G	A	129370584	3	1	451	1	0	0	0	0	1	0	0	0	17874	1377	48	2	1742	2	ZNF280C	23	129370584	Missense_Mutation	SNP	G	TCGA-S9-A7R3-01A-11D-A34J-08		129370584	25899976	36	35818											
HCFC1	3054	broad.mit.edu	37	X	153236222	153236222	+	Missense_Mutation	SNP	C	C	A			TCGA-S9-A7R3-01A-11D-A34J-08	TCGA-S9-A7R3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c66180f-e749-4b77-8f69-5ec01afae762	05a08903-42bb-4a25-a14e-9f0e3ce84fdb	g.chrX:153236222C>A	ENST00000310441.7	-	1	1036	c.70G>T	c.(70-72)Ggc>Tgc	p.G24C	HCFC1_ENST00000354233.3_Missense_Mutation_p.G24C|HCFC1_ENST00000369984.4_Missense_Mutation_p.G24C	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1 (VP16-accessory protein)	24					cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCCGACCAGCCCACCACTCGC	0.682													11	20					1.08611e-07	1.14229e-07	1	1	0	A	153236222	C	A	153236222	3	1	451	1	0	0	0	0	1	0	0	0	7032	623	22	5	6141	5	HCFC1	23	153236222	Missense_Mutation	SNP	C	TCGA-S9-A7R3-01A-11D-A34J-08	23865638	153236222	2034338	37	35819											
IRAK1	3654	broad.mit.edu	37	X	153282062	153282062	+	Silent	SNP	G	G	A			TCGA-S9-A7R3-01A-11D-A34J-08	TCGA-S9-A7R3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c66180f-e749-4b77-8f69-5ec01afae762	05a08903-42bb-4a25-a14e-9f0e3ce84fdb	g.chrX:153282062G>A	ENST00000369980.3	-	9	1229	c.1062C>T	c.(1060-1062)ccC>ccT	p.P354P	IRAK1_ENST00000477274.1_5'UTR|IRAK1_ENST00000429936.2_Silent_p.P380P|IRAK1_ENST00000369974.2_Silent_p.P354P|IRAK1_ENST00000393682.1_Silent_p.P380P|IRAK1_ENST00000393687.2_Silent_p.P354P	NM_001025242.1|NM_001569.3	NP_001020413.1|NP_001560.2	P51617	IRAK1_HUMAN	interleukin-1 receptor-associated kinase 1	354	Protein kinase.				activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|anti-apoptosis|innate immune response|interleukin-1-mediated signaling pathway|JNK cascade|lipopolysaccharide-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of NF-kappaB transcription factor activity|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|protein autophosphorylation|protein oligomerization|regulation of cytokine-mediated signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transmembrane receptor protein serine/threonine kinase signaling pathway	cytosol|endosome membrane|interleukin-1 receptor complex	ATP binding|NF-kappaB-inducing kinase activity|protein binding|protein heterodimerization activity|protein homodimerization activity|ubiquitin-protein ligase activity			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(15)|ovary(2)	25	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CTCCCAGCTTGGGTGTCAGCC	0.642													24	42					0	0	1	0	0	A	153282062	G	A	153282062	2	1	451	1	0	0	0	0	0	0	0	1	7865	1335	47	2		2	IRAK1	23	153282062	Silent	SNP	G	TCGA-S9-A7R3-01A-11D-A34J-08	45840	153282062	1988498	38	35820											
FCER1A	2205	broad.mit.edu	37	1	159277544	159277544	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7R4-01A-12D-A34J-08	TCGA-S9-A7R4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77ca901-4d4e-4546-a3a7-5fa393048ced	b8ca7b93-4eed-481e-a278-bd6be09075d6	g.chr1:159277544G>A	ENST00000368115.1	+	6	695	c.596G>A	c.(595-597)cGt>cAt	p.R199H	FCER1A_ENST00000368114.1_Missense_Mutation_p.R166H	NM_002001.3	NP_001992.1	P12319	FCERA_HUMAN	Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide	199						integral to plasma membrane				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(19)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_hematologic(112;0.0429)				Benzylpenicilloyl Polylysine(DB00895)|Omalizumab(DB00043)	ACAGCTCCGCGTGAGAAGTAC	0.413													26	123					0	0	1	0	0	A	159277544	G	A	159277544	3	1	452	1	0	0	0	0	1	0	0	0	5807	1145	40	1	614	1	FCER1A	1	159277544	Missense_Mutation	SNP	G	TCGA-S9-A7R4-01A-12D-A34J-08		159277544	89973077	1	35821											
SLC26A9	115019	broad.mit.edu	37	1	205888009	205888009	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A7R4-01A-12D-A34J-08	TCGA-S9-A7R4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77ca901-4d4e-4546-a3a7-5fa393048ced	b8ca7b93-4eed-481e-a278-bd6be09075d6	g.chr1:205888009C>T	ENST00000367135.3	-	19	2328	c.2215G>A	c.(2215-2217)Gca>Aca	p.A739T	SLC26A9_ENST00000367134.2_Missense_Mutation_p.A739T|SLC26A9_ENST00000340781.4_Missense_Mutation_p.A739T	NM_052934.3	NP_443166.1	Q7LBE3	S26A9_HUMAN	solute carrier family 26 (anion exchanger), member 9	739						integral to membrane	chloride channel activity|secondary active sulfate transmembrane transporter activity			NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5)	52	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0458)			CTAGCATTTGCCTGGGCAAAG	0.522											OREG0014164	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	237					0	0	1	0	0	T	205888009	C	T	205888009	3	4	452	1	0	0	0	0	1	0	0	0	14579	739	26	2	468	2	SLC26A9	1	205888009	Missense_Mutation	SNP	C	TCGA-S9-A7R4-01A-12D-A34J-08	46610465	205888009	43362612	2	35822											
LMAN2L	81562	broad.mit.edu	37	2	97403691	97403691	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7R4-01A-12D-A34J-08	TCGA-S9-A7R4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77ca901-4d4e-4546-a3a7-5fa393048ced	b8ca7b93-4eed-481e-a278-bd6be09075d6	g.chr2:97403691G>A	ENST00000264963.4	-	2	323	c.301C>T	c.(301-303)Cgg>Tgg	p.R101W	LMAN2L_ENST00000377079.4_Missense_Mutation_p.R101W|LMAN2L_ENST00000537039.1_Intron|LMAN2L_ENST00000426463.2_5'UTR|LMAN2L_ENST00000534882.1_Intron	NM_030805.3	NP_110432.1	Q9H0V9	LMA2L_HUMAN	lectin, mannose-binding 2-like	101	L-type lectin-like.				ER to Golgi vesicle-mediated transport|protein folding|protein transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle|Golgi membrane|integral to membrane	mannose binding|metal ion binding			NS(1)|breast(1)|endometrium(1)|lung(2)|skin(1)|urinary_tract(1)	7						CTTACCACCCGGTTCCACAAG	0.483													6	63					0	0	1	0	0	A	97403691	G	A	97403691	3	1	452	1	0	0	0	0	1	0	0	0	8880	1115	39	1	810	1	LMAN2L	2	97403691	Missense_Mutation	SNP	G	TCGA-S9-A7R4-01A-12D-A34J-08		97403691	145795682	3	35823											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-S9-A7R4-01A-12D-A34J-08	TCGA-S9-A7R4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77ca901-4d4e-4546-a3a7-5fa393048ced	b8ca7b93-4eed-481e-a278-bd6be09075d6	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	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								31	66					0	0	1	0	0	T	209113112	C	T	209113112	3	4	452	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-S9-A7R4-01A-12D-A34J-08	111709421	209113112	34086261	4	35824											
EPHA4	2043	broad.mit.edu	37	2	222294846	222294846	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A7R4-01A-12D-A34J-08	TCGA-S9-A7R4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77ca901-4d4e-4546-a3a7-5fa393048ced	b8ca7b93-4eed-481e-a278-bd6be09075d6	g.chr2:222294846T>C	ENST00000281821.2	-	15	2563	c.2522A>G	c.(2521-2523)tAt>tGt	p.Y841C	EPHA4_ENST00000409938.1_Missense_Mutation_p.Y841C|EPHA4_ENST00000409854.1_Missense_Mutation_p.Y841C|EPHA4_ENST00000392071.4_Missense_Mutation_p.Y790C	NM_004438.3	NP_004429.1	P54764	EPHA4_HUMAN	EPH receptor A4	841	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		GGGTAACCGATAGCCTTCCTC	0.527													9	58					0	0	1	0	0	C	222294846	T	C	222294846	3	2	452	1	0	0	0	0	1	0	0	0	5197	1406	49	3	450	3	EPHA4	2	222294846	Missense_Mutation	SNP	T	TCGA-S9-A7R4-01A-12D-A34J-08	13181734	222294846	20904527	5	35825											
SCG2	7857	broad.mit.edu	37	2	224462280	224462280	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7R4-01A-12D-A34J-08	TCGA-S9-A7R4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77ca901-4d4e-4546-a3a7-5fa393048ced	b8ca7b93-4eed-481e-a278-bd6be09075d6	g.chr2:224462280G>A	ENST00000305409.2	-	2	1953	c.1721C>T	c.(1720-1722)cCg>cTg	p.P574L		NM_003469.4	NP_003460.2	P13521	SCG2_HUMAN	secretogranin II	574					angiogenesis|endothelial cell migration|eosinophil chemotaxis|induction of positive chemotaxis|inflammatory response|MAPKKK cascade|negative regulation of apoptosis|negative regulation of endothelial cell proliferation|positive regulation of endothelial cell proliferation|protein secretion	extracellular space|stored secretory granule	chemoattractant activity|cytokine activity	p.P574Q(1)		NS(1)|breast(1)|endometrium(1)|kidney(6)|large_intestine(10)|liver(1)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	44		Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271)		Epithelial(121;8.16e-11)|all cancers(144;4.66e-08)|Lung(261;0.00714)|LUSC - Lung squamous cell carcinoma(224;0.008)		ATCATTCTTCGGGGGCCCCAC	0.493													4	117					0	0	1	0	0	A	224462280	G	A	224462280	3	1	452	1	0	0	0	0	1	0	0	0	13944	1116	39	1	136	1	SCG2	2	224462280	Missense_Mutation	SNP	G	TCGA-S9-A7R4-01A-12D-A34J-08	2167434	224462280	18737093	6	35826											
ISL1	3670	broad.mit.edu	37	5	50683336	50683336	+	Silent	SNP	C	C	A			TCGA-S9-A7R4-01A-12D-A34J-08	TCGA-S9-A7R4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77ca901-4d4e-4546-a3a7-5fa393048ced	b8ca7b93-4eed-481e-a278-bd6be09075d6	g.chr5:50683336C>A	ENST00000230658.7	+	3	816	c.231C>A	c.(229-231)atC>atA	p.I77I	ISL1_ENST00000505475.2_3'UTR|ISL1_ENST00000511384.1_Silent_p.I77I	NM_002202.2	NP_002193.2	P61371	ISL1_HUMAN	ISL LIM homeobox 1	77					generation of precursor metabolites and energy|multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(11)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31		Lung NSC(810;0.000845)|Breast(144;0.0411)				TGTACGGGATCAAATGCGCCA	0.622													10	13					0.00010058	0.00010058	1	1	0	A	50683336	C	A	50683336	2	1	452	1	0	0	0	0	0	0	0	1	7900	816	29	5		5	ISL1	5	50683336	Silent	SNP	C	TCGA-S9-A7R4-01A-12D-A34J-08		50683336	130231924	7	35827											
PKHD1	5314	broad.mit.edu	37	6	51890079	51890079	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7R4-01A-12D-A34J-08	TCGA-S9-A7R4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77ca901-4d4e-4546-a3a7-5fa393048ced	b8ca7b93-4eed-481e-a278-bd6be09075d6	g.chr6:51890079G>A	ENST00000371117.3	-	32	4804	c.4529C>T	c.(4528-4530)gCc>gTc	p.A1510V	PKHD1_ENST00000340994.4_Missense_Mutation_p.A1510V	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	1510	IPT/TIG 10.				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)					AGCTGTGGTGGCTAACCTCTG	0.473													61	99					0	0	1	0	0	A	51890079	G	A	51890079	3	1	452	1	0	0	0	0	1	0	0	0	12019	1203	42	2	7878	2	PKHD1	6	51890079	Missense_Mutation	SNP	G	TCGA-S9-A7R4-01A-12D-A34J-08		51890079	119224988	8	35828											
SSPO	23145	broad.mit.edu	37	7	149505350	149505350	+	RNA	SNP	T	T	C			TCGA-S9-A7R4-01A-12D-A34J-08	TCGA-S9-A7R4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77ca901-4d4e-4546-a3a7-5fa393048ced	b8ca7b93-4eed-481e-a278-bd6be09075d6	g.chr7:149505350T>C	ENST00000378016.2	+	0	8908							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CTGCAGCACCTGTGTCTCTGG	0.607													4	174					0	0	1	0	0	C	149505350	T	C	149505350	1	2	452	0	1	0	0	0	0	0	0	0	15245	1580	55	3		3	SSPO	7	149505350	RNA	SNP	T	TCGA-S9-A7R4-01A-12D-A34J-08		149505350	9633313	9	35829											
RBM12B	389677	broad.mit.edu	37	8	94746794	94746794	+	Missense_Mutation	SNP	C	C	G			TCGA-S9-A7R4-01A-12D-A34J-08	TCGA-S9-A7R4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77ca901-4d4e-4546-a3a7-5fa393048ced	b8ca7b93-4eed-481e-a278-bd6be09075d6	g.chr8:94746794C>G	ENST00000399300.2	-	3	2058	c.1845G>C	c.(1843-1845)agG>agC	p.R615S	RBM12B_ENST00000517700.1_Missense_Mutation_p.R615S|RBM12B_ENST00000520961.1_Intron	NM_203390.2	NP_976324.2	Q8IXT5	RB12B_HUMAN	RNA binding motif protein 12B	615							nucleotide binding|RNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			AGTCCTCCTCCCTAGGGTGCC	0.642													11	81					0	0	1	0	0	G	94746794	C	G	94746794	3	3	452	1	0	0	0	0	1	0	0	0	13166	622	22	5	1164	5	RBM12B	8	94746794	Missense_Mutation	SNP	C	TCGA-S9-A7R4-01A-12D-A34J-08		94746794	51617228	10	35830											
CEP78	84131	broad.mit.edu	37	9	80880816	80880816	+	Frame_Shift_Del	DEL	A	A	-			TCGA-S9-A7R4-01A-12D-A34J-08	TCGA-S9-A7R4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77ca901-4d4e-4546-a3a7-5fa393048ced	b8ca7b93-4eed-481e-a278-bd6be09075d6	g.chr9:80880816delA	ENST00000376597.4	+	15	1986	c.1842delA	c.(1840-1842)ctafs	p.L614fs	CEP78_ENST00000424347.2_Intron|CEP78_ENST00000415759.2_Intron|CEP78_ENST00000376598.2_Frame_Shift_Del_p.L613fs|CEP78_ENST00000277082.5_Intron	NM_001098802.1	NP_001092272.1	Q5JTW2	CEP78_HUMAN	centrosomal protein 78kDa	599					G2/M transition of mitotic cell cycle	centrosome|cytosol				breast(1)|cervix(1)|endometrium(5)|large_intestine(7)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	21						AAGGAACACTAATGAAGGTAC	0.294													2	4	---	---	---	---						-	80880816	A	-	80880816	7	5	452	1	0	1	0	1	0	0	0	0	3284	349	13	0	1900	0	CEP78	9	80880816	Frame_Shift_Del	DEL	A	TCGA-S9-A7R4-01A-12D-A34J-08		80880816	60332615	11	35831											
PTCHD3	374308	broad.mit.edu	37	10	27702370	27702370	+	Silent	SNP	G	G	A			TCGA-S9-A7R4-01A-12D-A34J-08	TCGA-S9-A7R4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77ca901-4d4e-4546-a3a7-5fa393048ced	b8ca7b93-4eed-481e-a278-bd6be09075d6	g.chr10:27702370G>A	ENST00000438700.3	-	1	927	c.810C>T	c.(808-810)taC>taT	p.Y270Y		NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	270					spermatid development	integral to membrane	hedgehog receptor activity	p.Y270Y(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						CCTGCCAGGCGTACAGGATCG	0.627													7	53					0	0	1	0	0	A	27702370	G	A	27702370	2	1	452	1	0	0	0	0	0	0	0	1	12783	1140	40	1		1	PTCHD3	10	27702370	Silent	SNP	G	TCGA-S9-A7R4-01A-12D-A34J-08		27702370	107832377	12	35832											
MYOF	26509	broad.mit.edu	37	10	95191198	95191198	+	Silent	SNP	G	G	T			TCGA-S9-A7R4-01A-12D-A34J-08	TCGA-S9-A7R4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77ca901-4d4e-4546-a3a7-5fa393048ced	b8ca7b93-4eed-481e-a278-bd6be09075d6	g.chr10:95191198G>T	ENST00000371501.4	-	4	434	c.312C>A	c.(310-312)atC>atA	p.I104I	MYOF_ENST00000371488.3_Silent_p.I104I|MYOF_ENST00000371502.4_Silent_p.I104I|MYOF_ENST00000371489.1_Silent_p.I104I|MYOF_ENST00000358334.5_Silent_p.I104I|MYOF_ENST00000359263.4_Silent_p.I104I			Q9NZM1	MYOF_HUMAN	myoferlin	104					blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						TTAGCAGGGAGATCAGCTTGT	0.448													26	38					3.90053e-15	4.07388e-15	1	1	0	T	95191198	G	T	95191198	2	4	452	1	0	0	0	0	0	0	0	1	10137	932	33	4		4	MYOF	10	95191198	Silent	SNP	G	TCGA-S9-A7R4-01A-12D-A34J-08	67488828	95191198	40343549	13	35833											
NUP98	4928	broad.mit.edu	37	11	3700842	3700842	+	Missense_Mutation	SNP	G	G	C			TCGA-S9-A7R4-01A-12D-A34J-08	TCGA-S9-A7R4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77ca901-4d4e-4546-a3a7-5fa393048ced	b8ca7b93-4eed-481e-a278-bd6be09075d6	g.chr11:3700842G>C	ENST00000324932.7	-	31	5435	c.5015C>G	c.(5014-5016)tCt>tGt	p.S1672C	NUP98_ENST00000359171.4_Missense_Mutation_p.S1598C|NUP98_ENST00000355260.3_Missense_Mutation_p.S1598C	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN	nucleoporin 98kDa	1689					carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex	protein binding|structural constituent of nuclear pore|transporter activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		AACAAGCCCAGATGTTTCCCA	0.463			T	"HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"	AML								26	54					0	0	1	0	0	C	3700842	G	C	3700842	3	2	452	1	0	0	0	0	1	0	0	0	10821	942	33	4	399	4	NUP98	11	3700842	Missense_Mutation	SNP	G	TCGA-S9-A7R4-01A-12D-A34J-08		3700842	131305674	14	35834											
TRIM3	10612	broad.mit.edu	37	11	6470639	6470639	+	Missense_Mutation	SNP	C	C	G			TCGA-S9-A7R4-01A-12D-A34J-08	TCGA-S9-A7R4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77ca901-4d4e-4546-a3a7-5fa393048ced	b8ca7b93-4eed-481e-a278-bd6be09075d6	g.chr11:6470639C>G	ENST00000525074.1	-	11	2373	c.1979G>C	c.(1978-1980)gGc>gCc	p.G660A	TRIM3_ENST00000536344.1_Missense_Mutation_p.G541A|TRIM3_ENST00000359518.3_Missense_Mutation_p.G660A|TRIM3_ENST00000345851.3_Missense_Mutation_p.G660A|TRIM3_ENST00000537602.1_Missense_Mutation_p.G582A	NM_001248006.1	NP_001234935.1	O75382	TRIM3_HUMAN	tripartite motif containing 3	660					nervous system development|protein transport	early endosome	protein C-terminus binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(3)	27		all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCCATGGGAGCCAAACTTGAA	0.602													4	29					0	0	1	0	0	G	6470639	C	G	6470639	3	3	452	1	0	0	0	0	1	0	0	0	16565	739	26	5	263	5	TRIM3	11	6470639	Missense_Mutation	SNP	C	TCGA-S9-A7R4-01A-12D-A34J-08	2769797	6470639	128535877	15	35835											
TUB	7275	broad.mit.edu	37	11	8115663	8115663	+	Missense_Mutation	SNP	G	G	C			TCGA-S9-A7R4-01A-12D-A34J-08	TCGA-S9-A7R4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77ca901-4d4e-4546-a3a7-5fa393048ced	b8ca7b93-4eed-481e-a278-bd6be09075d6	g.chr11:8115663G>C	ENST00000305253.4	+	5	730	c.489G>C	c.(487-489)aaG>aaC	p.K163N	TUB_ENST00000299506.2_Missense_Mutation_p.K108N|TUB_ENST00000534099.1_Missense_Mutation_p.K114N	NM_003320.4	NP_003311.2	P50607	TUB_HUMAN	tubby bipartite transcription factor	108					phagocytosis|positive regulation of phagocytosis|response to stimulus	cytoplasm|extracellular region|nucleus|plasma membrane				breast(1)|cervix(1)|endometrium(9)|large_intestine(7)|lung(5)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	26		all_lung(207;6.91e-20)|Lung NSC(207;3.36e-17)		Epithelial(150;1.69e-62)|BRCA - Breast invasive adenocarcinoma(625;8.54e-06)|LUSC - Lung squamous cell carcinoma(625;0.000184)		CTTCAGCCAAGAGAACCAAGG	0.602													77	173					0	0	1	0	0	C	8115663	G	C	8115663	3	2	452	1	0	0	0	0	1	0	0	0	16804	933	33	4	549	4	TUB	11	8115663	Missense_Mutation	SNP	G	TCGA-S9-A7R4-01A-12D-A34J-08	1645024	8115663	126890853	16	35836											
TUB	7275	broad.mit.edu	37	11	8117074	8117074	+	Missense_Mutation	SNP	G	G	C			TCGA-S9-A7R4-01A-12D-A34J-08	TCGA-S9-A7R4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77ca901-4d4e-4546-a3a7-5fa393048ced	b8ca7b93-4eed-481e-a278-bd6be09075d6	g.chr11:8117074G>C	ENST00000305253.4	+	6	833	c.592G>C	c.(592-594)Gac>Cac	p.D198H	TUB_ENST00000299506.2_Missense_Mutation_p.D143H|TUB_ENST00000534099.1_Missense_Mutation_p.D149H	NM_003320.4	NP_003311.2	P50607	TUB_HUMAN	tubby bipartite transcription factor	143	Asp/Glu-rich.				phagocytosis|positive regulation of phagocytosis|response to stimulus	cytoplasm|extracellular region|nucleus|plasma membrane				breast(1)|cervix(1)|endometrium(9)|large_intestine(7)|lung(5)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	26		all_lung(207;6.91e-20)|Lung NSC(207;3.36e-17)		Epithelial(150;1.69e-62)|BRCA - Breast invasive adenocarcinoma(625;8.54e-06)|LUSC - Lung squamous cell carcinoma(625;0.000184)		ACTGGCAGAAGACAAGTCTGA	0.652													56	24					0	0	1	0	0	C	8117074	G	C	8117074	3	2	452	1	0	0	0	0	1	0	0	0	16804	942	33	4	656	4	TUB	11	8117074	Missense_Mutation	SNP	G	TCGA-S9-A7R4-01A-12D-A34J-08	1411	8117074	126889442	17	35837											
MS4A4A	51338	broad.mit.edu	37	11	60059749	60059749	+	Silent	SNP	A	A	G			TCGA-S9-A7R4-01A-12D-A34J-08	TCGA-S9-A7R4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77ca901-4d4e-4546-a3a7-5fa393048ced	b8ca7b93-4eed-481e-a278-bd6be09075d6	g.chr11:60059749A>G	ENST00000355131.3	+	3	259	c.36A>G	c.(34-36)ccA>ccG	p.P12P	MS4A4A_ENST00000337908.4_Silent_p.P31P|MS4A4A_ENST00000395016.3_Silent_p.P12P|MS4A4A_ENST00000532114.1_Silent_p.P31P	NM_024021.3	NP_076926.2	Q96JQ5	M4A4A_HUMAN	membrane-spanning 4-domains, subfamily A, member 4A	31						integral to membrane	receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(12)|prostate(1)|skin(4)	23						AGGCCATGCCAGGGGCTGGCC	0.473													12	73					0	0	1	0	0	G	60059749	A	G	60059749	2	3	452	1	0	0	0	0	0	0	0	1	9911	175	7	3		3	MS4A4A	11	60059749	Silent	SNP	A	TCGA-S9-A7R4-01A-12D-A34J-08	51942675	60059749	74946767	18	35838											
MEN1	4221	broad.mit.edu	37	11	64571946	64571946	+	Silent	SNP	G	G	A			TCGA-S9-A7R4-01A-12D-A34J-08	TCGA-S9-A7R4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77ca901-4d4e-4546-a3a7-5fa393048ced	b8ca7b93-4eed-481e-a278-bd6be09075d6	g.chr11:64571946G>A	ENST00000337652.1	-	10	2211	c.1708C>T	c.(1708-1710)Ctg>Ttg	p.L570L	MEN1_ENST00000377321.1_Silent_p.L530L|MEN1_ENST00000443283.1_Silent_p.L570L|MEN1_ENST00000377313.1_Silent_p.L570L|MEN1_ENST00000312049.6_Silent_p.L565L|MEN1_ENST00000478548.1_5'UTR|MEN1_ENST00000394376.1_Silent_p.L570L|MEN1_ENST00000394374.2_Silent_p.L570L|MEN1_ENST00000377326.3_Silent_p.L565L|MEN1_ENST00000377316.2_Silent_p.L510L|MEN1_ENST00000315422.4_Silent_p.L565L	NM_130803.2	NP_570715	O00255	MEN1_HUMAN	multiple endocrine neoplasia I	570					DNA repair|histone lysine methylation|MAPKKK cascade|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of JNK cascade|negative regulation of osteoblast differentiation|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of telomerase activity|negative regulation of transcription from RNA polymerase II promoter|osteoblast development|positive regulation of protein binding|positive regulation of transforming growth factor beta receptor signaling pathway|response to gamma radiation|response to UV|transcription, DNA-dependent	chromatin|cleavage furrow|cytosol|histone methyltransferase complex|nuclear matrix|soluble fraction	double-stranded DNA binding|four-way junction DNA binding|protein binding, bridging|protein N-terminus binding|R-SMAD binding|transcription regulatory region DNA binding|Y-form DNA binding			NS(7)|adrenal_gland(5)|breast(2)|central_nervous_system(5)|endometrium(1)|gastrointestinal_tract_(site_indeterminate)(15)|large_intestine(2)|lung(21)|ovary(1)|pancreas(64)|parathyroid(181)|pituitary(7)|prostate(4)|retroperitoneum(1)|skin(1)|small_intestine(13)|soft_tissue(4)|stomach(1)|thymus(2)	337						GTGGCCACCAGCAGCTCCTTC	0.577			"D, Mis, N, F, S"		"parathyroid tumors, Pancreatic neuroendocrine tumors"	"parathyroid adenoma, pituitary adenoma, pancreatic islet cell, carcinoid"			Multiple Endocrine Neoplasia, type 1;Hyperparathyroidism, Familial Isolated				24	178					0	0	1	0	0	A	64571946	G	A	64571946	2	1	452	1	0	0	0	0	0	0	0	1	9522	962	34	2		2	MEN1	11	64571946	Silent	SNP	G	TCGA-S9-A7R4-01A-12D-A34J-08	4512197	64571946	70434570	19	35839											
LHFP	10186	broad.mit.edu	37	13	39918104	39918104	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7R4-01A-12D-A34J-08	TCGA-S9-A7R4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77ca901-4d4e-4546-a3a7-5fa393048ced	b8ca7b93-4eed-481e-a278-bd6be09075d6	g.chr13:39918104G>A	ENST00000379589.3	-	4	1034	c.572C>T	c.(571-573)tCg>tTg	p.S191L		NM_005780.2	NP_005771.1	Q9Y693	LHFP_HUMAN	lipoma HMGIC fusion partner	191						integral to membrane	DNA binding		HMGA2/LHFP(2)	breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(6)|prostate(2)	13		Lung NSC(96;3.55e-06)|Breast(139;0.00408)|Ovarian(182;0.0107)|Prostate(109;0.0118)|Lung SC(185;0.0719)|Hepatocellular(188;0.114)		OV - Ovarian serous cystadenocarcinoma(117;6.48e-46)|Epithelial(112;8.43e-42)|all cancers(112;1.42e-36)|GBM - Glioblastoma multiforme(144;0.00187)|BRCA - Breast invasive adenocarcinoma(63;0.00886)|KIRC - Kidney renal clear cell carcinoma(186;0.048)|Kidney(163;0.0601)|LUSC - Lung squamous cell carcinoma(192;0.105)		TTTCTTGCCCGAAAAGCAAGC	0.557			T	HMGA2	lipoma								47	58					0	0	1	0	0	A	39918104	G	A	39918104	3	1	452	1	0	0	0	0	1	0	0	0	8803	1059	37	1	34	1	LHFP	13	39918104	Missense_Mutation	SNP	G	TCGA-S9-A7R4-01A-12D-A34J-08		39918104	75251774	20	35840											
MYO9A	4649	broad.mit.edu	37	15	72324886	72324886	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A7R4-01A-12D-A34J-08	TCGA-S9-A7R4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77ca901-4d4e-4546-a3a7-5fa393048ced	b8ca7b93-4eed-481e-a278-bd6be09075d6	g.chr15:72324886C>T	ENST00000356056.5	-	3	1356	c.884G>A	c.(883-885)cGt>cAt	p.R295H	MYO9A_ENST00000566885.1_5'UTR|RP11-390D11.1_ENST00000568391.1_RNA|MYO9A_ENST00000444904.1_Missense_Mutation_p.R295H|MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000424560.1_Missense_Mutation_p.R295H|MYO9A_ENST00000564571.1_Missense_Mutation_p.R295H	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	295	Myosin head-like 1.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						CTTCCCAAAACGACTTGAATT	0.328													22	44					0	0	1	0	0	T	72324886	C	T	72324886	3	4	452	1	0	0	0	0	1	0	0	0	10132	536	19	1	6922	1	MYO9A	15	72324886	Missense_Mutation	SNP	C	TCGA-S9-A7R4-01A-12D-A34J-08		72324886	30206506	21	35841											
ABCC6	368	broad.mit.edu	37	16	16276377	16276377	+	Silent	SNP	G	G	A	rs115546382	by1000genomes	TCGA-S9-A7R4-01A-12D-A34J-08	TCGA-S9-A7R4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77ca901-4d4e-4546-a3a7-5fa393048ced	b8ca7b93-4eed-481e-a278-bd6be09075d6	g.chr16:16276377G>A	ENST00000205557.7	-	17	2168	c.2139C>T	c.(2137-2139)ttC>ttT	p.F713F	ABCC6_ENST00000574094.1_Intron	NM_001171.5	NP_001162	O95255	MRP6_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 6	713	ABC transporter 1.				response to drug|visual perception	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)		GCTCCTGCCCGAAGCACACAT	0.567													26	40					0	0	1	0	0	A	16276377	G	A	16276377	2	1	452	1	0	0	0	0	0	0	0	1	57	1049	37	1		1	ABCC6	16	16276377	Silent	SNP	G	TCGA-S9-A7R4-01A-12D-A34J-08		16276377	74078376	22	35842											
SULT1A2	6799	broad.mit.edu	37	16	28606753	28606753	+	Nonsense_Mutation	SNP	G	G	A			TCGA-S9-A7R4-01A-12D-A34J-08	TCGA-S9-A7R4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77ca901-4d4e-4546-a3a7-5fa393048ced	b8ca7b93-4eed-481e-a278-bd6be09075d6	g.chr16:28606753G>A	ENST00000395630.1	-	4	657	c.307C>T	c.(307-309)Cga>Tga	p.R103*	SULT1A2_ENST00000335715.4_Nonsense_Mutation_p.R103*|SULT1A2_ENST00000533150.1_Missense_Mutation_p.T131M	NM_177528.2	NP_803564	P50226	ST1A2_HUMAN	sulfotransferase family, cytosolic, 1A, phenol-preferring, member 2	103					3'-phosphoadenosine 5'-phosphosulfate metabolic process|amine biosynthetic process|catecholamine metabolic process|steroid metabolic process|sulfation|xenobiotic metabolic process	cytosol	aryl sulfotransferase activity|flavonol 3-sulfotransferase activity			NS(2)|breast(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(3)|skin(2)	14						TTCAGGAGTCGTGGGGCTGGT	0.592													12	115					0	0	1	0	0	A	28606753	G	A	28606753	4	1	452	1	0	0	0	0	0	1	0	0	15429	1153	40	1	600	1	SULT1A2	16	28606753	Nonsense_Mutation	SNP	G	TCGA-S9-A7R4-01A-12D-A34J-08	12330376	28606753	61748000	23	35843											
TP53	7157	broad.mit.edu	37	17	7579312	7579312	+	Splice_Site	SNP	C	C	T	rs55863639		TCGA-S9-A7R4-01A-12D-A34J-08	TCGA-S9-A7R4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77ca901-4d4e-4546-a3a7-5fa393048ced	b8ca7b93-4eed-481e-a278-bd6be09075d6	g.chr17:7579312C>T	ENST00000420246.2	-	4	507	c.375G>A	c.(373-375)acG>acA	p.T125T	TP53_ENST00000455263.2_Splice_Site_p.T125T|TP53_ENST00000413465.2_Splice_Site_p.T125T|TP53_ENST00000269305.4_Splice_Site_p.T125T|TP53_ENST00000445888.2_Splice_Site_p.T125T|TP53_ENST00000359597.4_Splice_Site_p.T125T	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	125	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		T -> A (in a sporadic cancer; somatic mutation).|T -> K (in sporadic cancers; somatic mutation).|T -> M (in sporadic cancers; somatic mutation).|T -> P (in a sporadic cancer; somatic mutation).|T -> R (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.T125T(51)|p.0?(8)|p.?(2)|p.V73fs*9(1)|p.G105_T125del21(1)|p.Y126fs*11(1)|p.P13fs*18(1)|p.T125_Y126insX(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)		GGCAACTGACCGTGCAAGTCA	0.537		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)			49	21					0	0	1	0	0	T	7579312	C	T	7579312	5	4	452	1	0	0	0	0	0	0	1	0	16442	666	23	1	927	1	TP53	17	7579312	Splice_Site	SNP	C	TCGA-S9-A7R4-01A-12D-A34J-08		7579312	73615898	24	35844											
SPAG5	10615	broad.mit.edu	37	17	26912593	26912593	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7R4-01A-12D-A34J-08	TCGA-S9-A7R4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77ca901-4d4e-4546-a3a7-5fa393048ced	b8ca7b93-4eed-481e-a278-bd6be09075d6	g.chr17:26912593G>A	ENST00000321765.5	-	8	2151	c.1819C>T	c.(1819-1821)Cgg>Tgg	p.R607W		NM_006461.3	NP_006452.3	Q96R06	SPAG5_HUMAN	sperm associated antigen 5	607					cell division|mitosis|phosphatidylinositol-mediated signaling|spindle organization	condensed chromosome kinetochore|cytoplasm|spindle pole	protein binding	p.R607W(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43	Lung NSC(42;0.00431)					CTGAATTCCCGCATGGATGCT	0.537													5	258					0	0	1	0	0	A	26912593	G	A	26912593	3	1	452	1	0	0	0	0	1	0	0	0	15037	1086	38	1	1830	1	SPAG5	17	26912593	Missense_Mutation	SNP	G	TCGA-S9-A7R4-01A-12D-A34J-08	19333281	26912593	54282617	25	35845											
SMARCA4	6597	broad.mit.edu	37	19	11123706	11123706	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A7R4-01A-12D-A34J-08	TCGA-S9-A7R4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77ca901-4d4e-4546-a3a7-5fa393048ced	b8ca7b93-4eed-481e-a278-bd6be09075d6	g.chr19:11123706A>G	ENST00000358026.2	+	16	2640	c.2356A>G	c.(2356-2358)Acc>Gcc	p.T786A	SMARCA4_ENST00000413806.3_Missense_Mutation_p.T786A|SMARCA4_ENST00000541122.2_Missense_Mutation_p.T786A|SMARCA4_ENST00000444061.3_Missense_Mutation_p.T786A|CTC-215O4.4_ENST00000587831.1_RNA|SMARCA4_ENST00000429416.3_Missense_Mutation_p.T786A|SMARCA4_ENST00000450717.3_Missense_Mutation_p.T786A|SMARCA4_ENST00000344626.4_Missense_Mutation_p.T786A|SMARCA4_ENST00000590574.1_Missense_Mutation_p.T786A|SMARCA4_ENST00000589677.1_Missense_Mutation_p.T786A	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	786	Helicase ATP-binding.				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				CCTGGGGAAGACCATCCAGAC	0.577			"F, N, Mis"		NSCLC								9	60					0	0	1	0	0	G	11123706	A	G	11123706	3	3	452	1	0	0	0	0	1	0	0	0	14824	275	10	3	2414	3	SMARCA4	19	11123706	Missense_Mutation	SNP	A	TCGA-S9-A7R4-01A-12D-A34J-08		11123706	48005277	26	35846											
OR7A17	26333	broad.mit.edu	37	19	14991465	14991465	+	Missense_Mutation	SNP	A	A	T			TCGA-S9-A7R4-01A-12D-A34J-08	TCGA-S9-A7R4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77ca901-4d4e-4546-a3a7-5fa393048ced	b8ca7b93-4eed-481e-a278-bd6be09075d6	g.chr19:14991465A>T	ENST00000327462.2	-	1	799	c.703T>A	c.(703-705)Tac>Aac	p.Y235N		NM_030901.1	NP_112163.1	O14581	OR7AH_HUMAN	olfactory receptor, family 7, subfamily A, member 17	235					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)	12	Ovarian(108;0.203)					AATGCCTTGTACTTCCCCTGA	0.502													13	114					0	0	1	0	0	T	14991465	A	T	14991465	3	4	452	1	0	0	0	0	1	0	0	0	11262	391	14	5	228	5	OR7A17	19	14991465	Missense_Mutation	SNP	A	TCGA-S9-A7R4-01A-12D-A34J-08	3867759	14991465	44137518	27	35847											
NUDT19	390916	broad.mit.edu	37	19	33183494	33183494	+	Missense_Mutation	SNP	C	C	G			TCGA-S9-A7R4-01A-12D-A34J-08	TCGA-S9-A7R4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77ca901-4d4e-4546-a3a7-5fa393048ced	b8ca7b93-4eed-481e-a278-bd6be09075d6	g.chr19:33183494C>G	ENST00000397061.3	+	1	628	c.628C>G	c.(628-630)Cgc>Ggc	p.R210G		NM_001105570.1	NP_001099040.1	A8MXV4	NUD19_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 19	210	Nudix hydrolase.					mitochondrion|peroxisome	hydrolase activity|metal ion binding			endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	8	Esophageal squamous(110;0.137)					GGGCACCACTCGCCGCTTTGA	0.677													3	21					0	0	1	0	0	G	33183494	C	G	33183494	3	3	452	1	0	0	0	0	1	0	0	0	10784	884	31	5	630	5	NUDT19	19	33183494	Missense_Mutation	SNP	C	TCGA-S9-A7R4-01A-12D-A34J-08	18192029	33183494	25945489	28	35848											
NKPD1	284353	broad.mit.edu	37	19	45656283	45656283	+	Frame_Shift_Del	DEL	C	C	-			TCGA-S9-A7R4-01A-12D-A34J-08	TCGA-S9-A7R4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77ca901-4d4e-4546-a3a7-5fa393048ced	b8ca7b93-4eed-481e-a278-bd6be09075d6	g.chr19:45656283delC	ENST00000317951.4	-	4	1411	c.1412delG	c.(1411-1413)ggcfs	p.G471fs	NKPD1_ENST00000438936.2_Frame_Shift_Del_p.G249fs|NKPD1_ENST00000589776.1_Frame_Shift_Del_p.G249fs|NKPD1_ENST00000429338.1_Frame_Shift_Del_p.G249fs	NM_198478.3	NP_940880.3			NTPase, KAP family P-loop domain containing 1											endometrium(1)|lung(4)|prostate(2)|urinary_tract(1)	8		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00863)|GBM - Glioblastoma multiforme(486;0.231)		GTTGAGCACGCCCACCACGCG	0.662													2	4	---	---	---	---						-	45656283	C	-	45656283	7	5	452	1	0	1	0	1	0	0	0	0	10493	739	26	0	1090	0	NKPD1	19	45656283	Frame_Shift_Del	DEL	C	TCGA-S9-A7R4-01A-12D-A34J-08	12472789	45656283	13472700	29	35849											
KIF16B	55614	broad.mit.edu	37	20	16352371	16352371	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A7R4-01A-12D-A34J-08	TCGA-S9-A7R4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77ca901-4d4e-4546-a3a7-5fa393048ced	b8ca7b93-4eed-481e-a278-bd6be09075d6	g.chr20:16352371C>T	ENST00000354981.2	-	21	3543	c.3386G>A	c.(3385-3387)cGc>cAc	p.R1129H	KIF16B_ENST00000408042.1_Missense_Mutation_p.R1129H|KIF16B_ENST00000378003.2_Missense_Mutation_p.R355H|KIF16B_ENST00000355755.3_Missense_Mutation_p.R1129H	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	1129					cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						ATCCTGAAGGCGTCTTTGGAC	0.443													9	154					0	0	1	0	0	T	16352371	C	T	16352371	3	4	452	1	0	0	0	0	1	0	0	0	8320	768	27	1	591	1	KIF16B	20	16352371	Missense_Mutation	SNP	C	TCGA-S9-A7R4-01A-12D-A34J-08		16352371	46673149	30	35850											
ZNF217	7764	broad.mit.edu	37	20	52199070	52199070	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A7R4-01A-12D-A34J-08	TCGA-S9-A7R4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77ca901-4d4e-4546-a3a7-5fa393048ced	b8ca7b93-4eed-481e-a278-bd6be09075d6	g.chr20:52199070C>T	ENST00000371471.2	-	2	721	c.296G>A	c.(295-297)cGg>cAg	p.R99Q	ZNF217_ENST00000302342.3_Missense_Mutation_p.R99Q			O75362	ZN217_HUMAN	zinc finger protein 217	99					negative regulation of transcription, DNA-dependent	histone deacetylase complex	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)			TGCTTCAACCCGAAGAACTGC	0.443													38	187					0	0	1	0	0	T	52199070	C	T	52199070	3	4	452	1	0	0	0	0	1	0	0	0	17830	652	23	1	2866	1	ZNF217	20	52199070	Missense_Mutation	SNP	C	TCGA-S9-A7R4-01A-12D-A34J-08	35846699	52199070	10826450	31	35851											
SYNJ1	8867	broad.mit.edu	37	21	34029205	34029205	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A7R4-01A-12D-A34J-08	TCGA-S9-A7R4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77ca901-4d4e-4546-a3a7-5fa393048ced	b8ca7b93-4eed-481e-a278-bd6be09075d6	g.chr21:34029205C>T	ENST00000382499.2	-	21	2703	c.2704G>A	c.(2704-2706)Gtt>Att	p.V902I	SYNJ1_ENST00000433931.2_Missense_Mutation_p.V902I|SYNJ1_ENST00000357345.3_Missense_Mutation_p.V863I|SYNJ1_ENST00000464778.1_5'UTR|SYNJ1_ENST00000382491.3_Missense_Mutation_p.V858I|SYNJ1_ENST00000322229.7_Missense_Mutation_p.V863I	NM_203446.2	NP_982271.2	O43426	SYNJ1_HUMAN	synaptojanin 1	863	Pro-rich.|RRM.						inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						ATCAGGGCAACGACAGGCCTT	0.343													11	83					0	0	1	0	0	T	34029205	C	T	34029205	3	4	452	1	0	0	0	0	1	0	0	0	15509	536	19	1	2207	1	SYNJ1	21	34029205	Missense_Mutation	SNP	C	TCGA-S9-A7R4-01A-12D-A34J-08		34029205	14100690	32	35852											
KCNJ6	3763	broad.mit.edu	37	21	38997768	38997768	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A7R4-01A-12D-A34J-08	TCGA-S9-A7R4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77ca901-4d4e-4546-a3a7-5fa393048ced	b8ca7b93-4eed-481e-a278-bd6be09075d6	g.chr21:38997768C>T	ENST00000609713.1	-	4	1554	c.965G>A	c.(964-966)cGa>cAa	p.R322Q	KCNJ6_ENST00000288309.6_Missense_Mutation_p.R322Q	NM_002240.3	NP_002231.1	P48051	IRK6_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 6						synaptic transmission	Golgi apparatus|voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22					Halothane(DB01159)	GTAGGAGCTTCGAGCTTGGCA	0.527													24	33					0	0	1	0	0	T	38997768	C	T	38997768	3	4	452	1	0	0	0	0	1	0	0	0	8099	884	31	1	310	1	KCNJ6	21	38997768	Missense_Mutation	SNP	C	TCGA-S9-A7R4-01A-12D-A34J-08	4968563	38997768	9132127	33	35853											
MAPK8IP2	23542	broad.mit.edu	37	22	51044141	51044141	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7R4-01A-12D-A34J-08	TCGA-S9-A7R4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77ca901-4d4e-4546-a3a7-5fa393048ced	b8ca7b93-4eed-481e-a278-bd6be09075d6	g.chr22:51044141G>A	ENST00000399908.2	+	5	1911	c.1195G>A	c.(1195-1197)Ggc>Agc	p.G399S	MAPK8IP2_ENST00000341339.4_Missense_Mutation_p.G285S|MAPK8IP2_ENST00000442429.2_Missense_Mutation_p.G387S|MAPK8IP2_ENST00000329492.3_Missense_Mutation_p.G664S|MAPK8IP2_ENST00000399912.1_Missense_Mutation_p.G399S|MAPK8IP2_ENST00000008876.5_Missense_Mutation_p.G370S	NM_016431.3	NP_057515.1	Q13387	JIP2_HUMAN	mitogen-activated protein kinase 8 interacting protein 2	665					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)		TGCGGTGCCCGGCCCTGCCAA	0.672													4	28					0	0	1	0	0	A	51044141	G	A	51044141	3	1	452	1	0	0	0	0	1	0	0	0	9335	1116	39	1	2108	1	MAPK8IP2	22	51044141	Missense_Mutation	SNP	G	TCGA-S9-A7R4-01A-12D-A34J-08		51044141	260425	34	35854											
MIB2	142678	broad.mit.edu	37	1	1564066	1564067	+	Frame_Shift_Ins	INS	-	-	G			TCGA-S9-A7R7-01A-11D-A34J-08	TCGA-S9-A7R7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	996e2b01-43d2-4325-a00a-0f3d0400011b	b62e6aa3-04c8-46eb-a09b-6a9246c50180	g.chr1:1564066_1564067insG	ENST00000357210.4	+	16	2556_2557	c.2340_2341insG	c.(2341-2343)gggfs	p.G781fs	MIB2_ENST00000378712.1_Frame_Shift_Ins_p.G658fs|MIB2_ENST00000378708.1_Frame_Shift_Ins_p.G687fs|MIB2_ENST00000355826.5_Frame_Shift_Ins_p.G824fs|MIB2_ENST00000518681.1_Frame_Shift_Ins_p.G773fs|MIB2_ENST00000360522.4_Frame_Shift_Ins_p.G746fs|MIB2_ENST00000504599.1_Frame_Shift_Ins_p.G737fs|MIB2_ENST00000520777.1_Frame_Shift_Ins_p.G834fs|MIB2_ENST00000378710.3_Frame_Shift_Ins_p.G745fs|MIB2_ENST00000505820.2_Frame_Shift_Ins_p.G838fs	NM_080875.2	NP_543151.2	Q96AX9	MIB2_HUMAN	mindbomb E3 ubiquitin protein ligase 2	781					Notch signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade	endosome	actin binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|lung(7)|prostate(4)|upper_aerodigestive_tract(1)	18	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		CTGATGGGGCCGGGGGGGACCC	0.713													4	7	---	---	---	---						G	1564067	-	G	1564066	7	5	453	1	0	1	1	0	0	0	0	0	9616	639	23	0	2573	0	MIB2	1	1564066	Frame_Shift_Ins	INS	-	TCGA-S9-A7R7-01A-11D-A34J-08		1564066	247686555	1	35855											
GBP5	115362	broad.mit.edu	37	1	89729445	89729445	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A7R7-01A-11D-A34J-08	TCGA-S9-A7R7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	996e2b01-43d2-4325-a00a-0f3d0400011b	b62e6aa3-04c8-46eb-a09b-6a9246c50180	g.chr1:89729445A>G	ENST00000343435.5	-	9	1872	c.1336T>C	c.(1336-1338)Tat>Cat	p.Y446H	RP4-620F22.2_ENST00000437128.1_RNA|GBP5_ENST00000370459.3_Missense_Mutation_p.Y446H	NM_001134486.2|NM_052942.3	NP_001127958.1|NP_443174.1	Q96PP8	GBP5_HUMAN	guanylate binding protein 5	446						plasma membrane	GTP binding|GTPase activity			breast(1)|endometrium(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)	24				all cancers(265;0.00784)|Epithelial(280;0.0286)		GGCTCCCGATAGTACTTTGCC	0.428													60	145					0	0	1	0	0	G	89729445	A	G	89729445	3	3	453	1	0	0	0	0	1	0	0	0	6317	420	15	3	440	3	GBP5	1	89729445	Missense_Mutation	SNP	A	TCGA-S9-A7R7-01A-11D-A34J-08	88165379	89729445	159521176	2	35856											
MNDA	4332	broad.mit.edu	37	1	158815468	158815468	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A7R7-01A-11D-A34J-08	TCGA-S9-A7R7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	996e2b01-43d2-4325-a00a-0f3d0400011b	b62e6aa3-04c8-46eb-a09b-6a9246c50180	g.chr1:158815468C>T	ENST00000368141.4	+	5	923	c.662C>T	c.(661-663)gCg>gTg	p.A221V		NM_002432.1	NP_002423.1	P41218	MNDA_HUMAN	myeloid cell nuclear differentiation antigen	221	HIN-200.				B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(26)|ovary(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	all_hematologic(112;0.0378)					AAAGCAACAGCGCCATTTAAA	0.468													22	59					0	0	1	0	0	T	158815468	C	T	158815468	3	4	453	1	0	0	0	0	1	0	0	0	9725	768	27	1	676	1	MNDA	1	158815468	Missense_Mutation	SNP	C	TCGA-S9-A7R7-01A-11D-A34J-08	69086023	158815468	90435153	3	35857											
BRE	9577	broad.mit.edu	37	2	28521236	28521236	+	Silent	SNP	G	G	A			TCGA-S9-A7R7-01A-11D-A34J-08	TCGA-S9-A7R7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	996e2b01-43d2-4325-a00a-0f3d0400011b	b62e6aa3-04c8-46eb-a09b-6a9246c50180	g.chr2:28521236G>A	ENST00000344773.2	+	11	1104	c.966G>A	c.(964-966)caG>caA	p.Q322Q	BRE_ENST00000379624.1_Silent_p.Q322Q|BRE_ENST00000361704.2_Silent_p.Q322Q|BRE_ENST00000379632.2_Silent_p.Q322Q|BRE_ENST00000342045.2_Silent_p.Q322Q	NM_004899.4	NP_004890.2	Q9NXR7	BRE_HUMAN	brain and reproductive organ-expressed (TNFRSF1A modulator)	322	UEV-like 2.				apoptosis|chromatin modification|double-strand break repair|G2/M transition DNA damage checkpoint|positive regulation of anti-apoptosis|positive regulation of DNA repair|response to ionizing radiation|signal transduction	BRCA1-A complex|BRISC complex|cytoplasm|nuclear ubiquitin ligase complex	peroxisome targeting sequence binding|polyubiquitin binding|tumor necrosis factor receptor binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(2)	23	Acute lymphoblastic leukemia(172;0.155)					CTCGAGACCAGCCAACTCTCA	0.408													5	285					0	0	1	0	0	A	28521236	G	A	28521236	2	1	453	1	0	0	0	0	0	0	0	1	1511	962	34	2		2	BRE	2	28521236	Silent	SNP	G	TCGA-S9-A7R7-01A-11D-A34J-08		28521236	214678137	4	35858											
CEBPZ	10153	broad.mit.edu	37	2	37439481	37439481	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7R7-01A-11D-A34J-08	TCGA-S9-A7R7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	996e2b01-43d2-4325-a00a-0f3d0400011b	b62e6aa3-04c8-46eb-a09b-6a9246c50180	g.chr2:37439481G>A	ENST00000234170.5	-	11	2745	c.2600C>T	c.(2599-2601)gCt>gTt	p.A867V	AC007390.5_ENST00000397064.2_Intron|RP11-423P10.2_ENST00000606229.1_RNA	NM_005760.2	NP_005751.2	Q03701	CEBPZ_HUMAN	CCAAT/enhancer binding protein (C/EBP), zeta	867					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding			breast(3)|endometrium(2)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28		all_hematologic(82;0.21)				ATGTTACCCAGCAAAATCCAT	0.378													4	142					0	0	1	0	0	A	37439481	G	A	37439481	3	1	453	1	0	0	0	0	1	0	0	0	3226	971	34	2	588	2	CEBPZ	2	37439481	Missense_Mutation	SNP	G	TCGA-S9-A7R7-01A-11D-A34J-08	8918245	37439481	205759892	5	35859											
PGAP1	80055	broad.mit.edu	37	2	197761856	197761856	+	Splice_Site	SNP	T	T	C			TCGA-S9-A7R7-01A-11D-A34J-08	TCGA-S9-A7R7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	996e2b01-43d2-4325-a00a-0f3d0400011b	b62e6aa3-04c8-46eb-a09b-6a9246c50180	g.chr2:197761856T>C	ENST00000354764.4	-	7	1040	c.926A>G	c.(925-927)cAa>cGa	p.Q309R	PGAP1_ENST00000409475.1_Splice_Site_p.Q309R|PGAP1_ENST00000485830.1_5'UTR|PGAP1_ENST00000409188.1_Splice_Site_p.Q267R	NM_024989.3	NP_079265.2	Q75T13	PGAP1_HUMAN	post-GPI attachment to proteins 1						attachment of GPI anchor to protein|C-terminal protein lipidation|intracellular protein transport|myo-inositol transport	integral to membrane|intrinsic to endoplasmic reticulum membrane	nuclease activity|phosphoric ester hydrolase activity			breast(4)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|ovary(6)|stomach(1)|urinary_tract(1)	40						AATACATACTTGTTTAGTATC	0.254													32	91					0	0	1	0	0	C	197761856	T	C	197761856	5	2	453	1	0	0	0	0	0	0	1	0	11825	1826	63	3	1926	3	PGAP1	2	197761856	Splice_Site	SNP	T	TCGA-S9-A7R7-01A-11D-A34J-08	160322375	197761856	45437517	6	35860											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-S9-A7R7-01A-11D-A34J-08	TCGA-S9-A7R7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	996e2b01-43d2-4325-a00a-0f3d0400011b	b62e6aa3-04c8-46eb-a09b-6a9246c50180	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	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								26	78					0	0	1	0	0	T	209113112	C	T	209113112	3	4	453	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-S9-A7R7-01A-11D-A34J-08	11351256	209113112	34086261	7	35861											
OSBPL10	114884	broad.mit.edu	37	3	31725336	31725336	+	Frame_Shift_Del	DEL	G	G	-			TCGA-S9-A7R7-01A-11D-A34J-08	TCGA-S9-A7R7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	996e2b01-43d2-4325-a00a-0f3d0400011b	b62e6aa3-04c8-46eb-a09b-6a9246c50180	g.chr3:31725336delG	ENST00000396556.2	-	8	1638	c.1516delC	c.(1516-1518)cgcfs	p.R506fs	OSBPL10_ENST00000438237.2_Frame_Shift_Del_p.R442fs	NM_017784.4	NP_060254.2	Q9BXB5	OSB10_HUMAN	oxysterol binding protein-like 10	506					lipid transport		lipid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	34				STAD - Stomach adenocarcinoma(1;0.00406)		GCAGGAGAGCGGGAAGCAGTC	0.542													36	89	---	---	---	---						-	31725336	G	-	31725336	7	5	453	1	0	1	0	1	0	0	0	0	11322	1116	39	0	798	0	OSBPL10	3	31725336	Frame_Shift_Del	DEL	G	TCGA-S9-A7R7-01A-11D-A34J-08		31725336	166297094	8	35862											
CAMKV	79012	broad.mit.edu	37	3	49899247	49899247	+	Silent	SNP	C	C	T			TCGA-S9-A7R7-01A-11D-A34J-08	TCGA-S9-A7R7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	996e2b01-43d2-4325-a00a-0f3d0400011b	b62e6aa3-04c8-46eb-a09b-6a9246c50180	g.chr3:49899247C>T	ENST00000477224.1	-	4	757	c.279G>A	c.(277-279)aaG>aaA	p.K93K	CAMKV_ENST00000498324.1_5'UTR|CAMKV_ENST00000488336.1_Silent_p.K93K|CAMKV_ENST00000467248.1_Silent_p.K18K|CAMKV_ENST00000296471.7_Silent_p.K93K|CAMKV_ENST00000463537.1_Silent_p.K93K|CAMKV_ENST00000466940.1_Silent_p.K93K			Q8NCB2	CAMKV_HUMAN	CaM kinase-like vesicle-associated	93	Protein kinase.					cytoplasmic vesicle membrane|plasma membrane	ATP binding|protein serine/threonine kinase activity			central_nervous_system(1)|large_intestine(2)|lung(2)|ovary(2)	7				BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		TAAAGTACTCCTTGCGGGTCA	0.582													24	65					0	0	1	0	0	T	49899247	C	T	49899247	2	4	453	1	0	0	0	0	0	0	0	1	2626	680	24	2		2	CAMKV	3	49899247	Silent	SNP	C	TCGA-S9-A7R7-01A-11D-A34J-08	18173911	49899247	148123183	9	35863											
PIK3CA	5290	broad.mit.edu	37	3	178952085	178952085	+	Missense_Mutation	SNP	A	A	G	rs121913279		TCGA-S9-A7R7-01A-11D-A34J-08	TCGA-S9-A7R7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	996e2b01-43d2-4325-a00a-0f3d0400011b	b62e6aa3-04c8-46eb-a09b-6a9246c50180	g.chr3:178952085A>G	ENST00000263967.3	+	21	3297	c.3140A>G	c.(3139-3141)cAt>cGt	p.H1047R		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1047	PI3K/PI4K.		H -> L (in cancer).|H -> R (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane).|H -> Y (in cancer).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.H1047R(1387)|p.H1047L(194)|p.H1047P(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			AATGATGCACATCATGGTGGC	0.378	H1047L(EFM19_BREAST)|H1047R(BT20_BREAST)|H1047R(CAL29_URINARY_TRACT)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(HCC1954_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(MCAS_OVARY)|H1047R(MDAMB453_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(RKO_LARGE_INTESTINE)|H1047R(SKOV3_OVARY)|H1047R(T47D_BREAST)	57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			26	66					0	0	1	0	0	G	178952085	A	G	178952085	3	3	453	1	0	0	0	0	1	0	0	0	11961	217	8	3	3218	3	PIK3CA	3	178952085	Missense_Mutation	SNP	A	TCGA-S9-A7R7-01A-11D-A34J-08	129052838	178952085	19070345	10	35864											
TULP1	7287	broad.mit.edu	37	6	35466203	35466203	+	Silent	SNP	C	C	T			TCGA-S9-A7R7-01A-11D-A34J-08	TCGA-S9-A7R7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	996e2b01-43d2-4325-a00a-0f3d0400011b	b62e6aa3-04c8-46eb-a09b-6a9246c50180	g.chr6:35466203C>T	ENST00000229771.6	-	15	1609	c.1530G>A	c.(1528-1530)gcG>gcA	p.A510A	TULP1_ENST00000322263.4_Silent_p.A457A	NM_003322.3	NP_003313.3	O00294	TULP1_HUMAN	tubby like protein 1	510					dendrite development|eye photoreceptor cell development|phagocytosis|photoreceptor cell maintenance|positive regulation of phagocytosis	cell junction|cytoplasm|extracellular region|photoreceptor inner segment|photoreceptor outer segment|synapse	actin filament binding|phosphatidylinositol-4,5-bisphosphate binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	19						AGGCGTCCTCCGCCACGCGGC	0.662													7	32					0	0	1	0	0	T	35466203	C	T	35466203	2	4	453	1	0	0	0	0	0	0	0	1	16835	639	23	1		1	TULP1	6	35466203	Silent	SNP	C	TCGA-S9-A7R7-01A-11D-A34J-08		35466203	135648864	11	35865											
UTRN	7402	broad.mit.edu	37	6	144820553	144820553	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A7R7-01A-11D-A34J-08	TCGA-S9-A7R7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	996e2b01-43d2-4325-a00a-0f3d0400011b	b62e6aa3-04c8-46eb-a09b-6a9246c50180	g.chr6:144820553C>T	ENST00000367545.3	+	33	4754	c.4754C>T	c.(4753-4755)tCc>tTc	p.S1585F		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	1585	Interaction with SYNM.				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		ACAGAAATTTCCTGGGCTAAA	0.473													23	50					0	0	1	0	0	T	144820553	C	T	144820553	3	4	453	1	0	0	0	0	1	0	0	0	17163	855	30	2	4884	2	UTRN	6	144820553	Missense_Mutation	SNP	C	TCGA-S9-A7R7-01A-11D-A34J-08	109354350	144820553	26294514	12	35866											
SLC13A1	6561	broad.mit.edu	37	7	122763178	122763178	+	Splice_Site	SNP	A	A	T			TCGA-S9-A7R7-01A-11D-A34J-08	TCGA-S9-A7R7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	996e2b01-43d2-4325-a00a-0f3d0400011b	b62e6aa3-04c8-46eb-a09b-6a9246c50180	g.chr7:122763178A>T	ENST00000194130.2	-	12	1390		c.e12+1		SLC13A1_ENST00000539873.1_Splice_Site	NM_022444.3	NP_071889.2	Q9BZW2	S13A1_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 1							integral to membrane|plasma membrane	sodium:sulfate symporter activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	45					Succinic acid(DB00139)	ACAGAGTATTACCTCACAACC	0.403													43	98					0	0	1	0	0	T	122763178	A	T	122763178	5	4	453	1	0	0	0	0	0	0	1	0	14446	405	14	5	451	5	SLC13A1	7	122763178	Splice_Site	SNP	A	TCGA-S9-A7R7-01A-11D-A34J-08		122763178	36375485	13	35867											
USP20	10868	broad.mit.edu	37	9	132620353	132620353	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7R7-01A-11D-A34J-08	TCGA-S9-A7R7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	996e2b01-43d2-4325-a00a-0f3d0400011b	b62e6aa3-04c8-46eb-a09b-6a9246c50180	g.chr9:132620353G>A	ENST00000315480.4	+	5	318	c.160G>A	c.(160-162)Gga>Aga	p.G54R	USP20_ENST00000358355.1_Missense_Mutation_p.G54R|USP20_ENST00000372429.3_Missense_Mutation_p.G54R			Q9Y2K6	UBP20_HUMAN	ubiquitin specific peptidase 20	54					endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|ubiquitin thiolesterase activity|zinc ion binding			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|urinary_tract(1)	11		Ovarian(14;0.00556)				TGTTGGCTGCGGAGAATCCTT	0.562													47	86					0	0	1	0	0	A	132620353	G	A	132620353	3	1	453	1	0	0	0	0	1	0	0	0	17112	1117	39	1	170	1	USP20	9	132620353	Missense_Mutation	SNP	G	TCGA-S9-A7R7-01A-11D-A34J-08		132620353	8593078	14	35868											
OR4C46	119749	broad.mit.edu	37	11	51515455	51515455	+	Nonsense_Mutation	SNP	C	C	A	rs138769000		TCGA-S9-A7R7-01A-11D-A34J-08	TCGA-S9-A7R7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	996e2b01-43d2-4325-a00a-0f3d0400011b	b62e6aa3-04c8-46eb-a09b-6a9246c50180	g.chr11:51515455C>A	ENST00000328188.1	+	1	174	c.174C>A	c.(172-174)taC>taA	p.Y58*		NM_001004703.1	NP_001004703.1	A6NHA9	O4C46_HUMAN	olfactory receptor, family 4, subfamily C, member 46	58					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	48						CCCCCATGTACCTTTCCCTGG	0.458													62	160					3.33906e-19	3.51029e-19	1	1	0	A	51515455	C	A	51515455	4	1	453	1	0	0	0	0	0	1	0	0	11099	518	18	5	176	5	OR4C46	11	51515455	Nonsense_Mutation	SNP	C	TCGA-S9-A7R7-01A-11D-A34J-08		51515455	83491061	15	35869											
MAP6	4135	broad.mit.edu	37	11	75298872	75298872	+	Silent	SNP	A	A	T			TCGA-S9-A7R7-01A-11D-A34J-08	TCGA-S9-A7R7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	996e2b01-43d2-4325-a00a-0f3d0400011b	b62e6aa3-04c8-46eb-a09b-6a9246c50180	g.chr11:75298872A>T	ENST00000304771.3	-	4	2424	c.1674T>A	c.(1672-1674)tcT>tcA	p.S558S	MAP6_ENST00000526740.1_Silent_p.S229S|CTD-2530H12.4_ENST00000527803.1_RNA	NM_033063.1	NP_149052.1	Q96JE9	MAP6_HUMAN	microtubule-associated protein 6	558	Pro-rich.					Golgi apparatus|microtubule|perinuclear region of cytoplasm	calmodulin binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	19	Ovarian(111;0.11)					GATCCTTTAGAGACTCTGGTA	0.502													47	101					0	0	1	0	0	T	75298872	A	T	75298872	2	4	453	1	0	0	0	0	0	0	0	1	9314	291	11	5		5	MAP6	11	75298872	Silent	SNP	A	TCGA-S9-A7R7-01A-11D-A34J-08	23783417	75298872	59707644	16	35870											
ST8SIA1	6489	broad.mit.edu	37	12	22440124	22440129	+	In_Frame_Del	DEL	AGTATA	AGTATA	-			TCGA-S9-A7R7-01A-11D-A34J-08	TCGA-S9-A7R7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	996e2b01-43d2-4325-a00a-0f3d0400011b	b62e6aa3-04c8-46eb-a09b-6a9246c50180	g.chr12:22440124_22440129delAGTATA	ENST00000396037.4	-	2	816_821	c.335_340delTATACT	c.(334-342)ttatactca>tca	p.LY112del	ST8SIA1_ENST00000539510.1_In_Frame_Del_p.YT6del	NM_003034.3	NP_003025.1	Q92185	SIA8A_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 1	112					glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	25						ATGGTGAATGAGTATAAAAACTCCCC	0.413													18	43	---	---	---	---						-	22440129	AGTATA	-	22440124	7	5	453	1	0	1	0	1	0	0	0	0	15287	304	11	0	746	0	ST8SIA1	12	22440124	In_Frame_Del	DEL	AGTATA	TCGA-S9-A7R7-01A-11D-A34J-08		22440124	111411771	17	35871											
LMBR1L	55716	broad.mit.edu	37	12	49494380	49494380	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7R7-01A-11D-A34J-08	TCGA-S9-A7R7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	996e2b01-43d2-4325-a00a-0f3d0400011b	b62e6aa3-04c8-46eb-a09b-6a9246c50180	g.chr12:49494380G>A	ENST00000267102.8	-	14	1474	c.1132C>T	c.(1132-1134)Cgg>Tgg	p.R378W	LMBR1L_ENST00000395141.4_Missense_Mutation_p.R373W|LMBR1L_ENST00000547382.1_Missense_Mutation_p.R358W	NM_018113.2	NP_060583.2	Q6UX01	LMBRL_HUMAN	limb development membrane protein 1-like	378					endocytosis	integral to membrane|plasma membrane	receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						CGCAGGCTCCGGAAGAGTGGA	0.562													3	31					0	0	1	0	0	A	49494380	G	A	49494380	3	1	453	1	0	0	0	0	1	0	0	0	8882	1115	39	1	353	1	LMBR1L	12	49494380	Missense_Mutation	SNP	G	TCGA-S9-A7R7-01A-11D-A34J-08	27054256	49494380	84357515	18	35872											
OCA2	4948	broad.mit.edu	37	15	28326921	28326921	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A7R7-01A-11D-A34J-08	TCGA-S9-A7R7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	996e2b01-43d2-4325-a00a-0f3d0400011b	b62e6aa3-04c8-46eb-a09b-6a9246c50180	g.chr15:28326921C>T	ENST00000354638.3	-	2	255	c.100G>A	c.(100-102)Ggc>Agc	p.G34S	OCA2_ENST00000382996.2_Missense_Mutation_p.G34S|OCA2_ENST00000353809.5_Missense_Mutation_p.G34S	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II	34					eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		CTGCGCTTGCCGGCCACAAGT	0.721									Oculocutaneous Albinism				10	21					0	0	1	0	0	T	28326921	C	T	28326921	3	4	453	1	0	0	0	0	1	0	0	0	10863	652	23	1	2508	1	OCA2	15	28326921	Missense_Mutation	SNP	C	TCGA-S9-A7R7-01A-11D-A34J-08		28326921	74204471	19	35873											
USP6	9098	broad.mit.edu	37	17	5048779	5048779	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7R7-01A-11D-A34J-08	TCGA-S9-A7R7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	996e2b01-43d2-4325-a00a-0f3d0400011b	b62e6aa3-04c8-46eb-a09b-6a9246c50180	g.chr17:5048779G>A	ENST00000574788.1	+	27	4302	c.2072G>A	c.(2071-2073)tGc>tAc	p.C691Y	USP6_ENST00000332776.4_Missense_Mutation_p.C691Y|USP6_ENST00000304328.5_Missense_Mutation_p.C374Y|USP6_ENST00000250066.6_Missense_Mutation_p.C691Y			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6 (Tre-2 oncogene)	691					protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						CAAGTCAAATGCAAGACATGT	0.388			T	"COL1A1, CDH11, ZNF9, OMD"	aneurysmal bone cysts								57	136					0	0	1	0	0	A	5048779	G	A	5048779	3	1	453	1	0	0	0	0	1	0	0	0	17146	1319	46	2	2142	2	USP6	17	5048779	Missense_Mutation	SNP	G	TCGA-S9-A7R7-01A-11D-A34J-08		5048779	76146431	20	35874											
TP53	7157	broad.mit.edu	37	17	7577105	7577105	+	Frame_Shift_Del	DEL	G	G	-			TCGA-S9-A7R7-01A-11D-A34J-08	TCGA-S9-A7R7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	996e2b01-43d2-4325-a00a-0f3d0400011b	b62e6aa3-04c8-46eb-a09b-6a9246c50180	g.chr17:7577105delG	ENST00000420246.2	-	8	965	c.833delC	c.(832-834)cctfs	p.P278fs	TP53_ENST00000359597.4_Frame_Shift_Del_p.P278fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.P278fs|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Frame_Shift_Del_p.P278fs|TP53_ENST00000269305.4_Frame_Shift_Del_p.P278fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	278	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		P -> A (in sporadic cancers; somatic mutation; dbSNP:rs17849781).|P -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> H (in sporadic cancers; somatic mutation).|P -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation).|P -> T (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.P278L(61)|p.P278R(30)|p.P278H(13)|p.0?(8)|p.P278F(3)|p.?(2)|p.P278fs*67(2)|p.A276_R283delACPGRDRR(1)|p.C275fs*20(1)|p.A276fs*64(1)|p.L265_K305del41(1)|p.F270_D281del12(1)|p.V274_P278del(1)|p.S269fs*21(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(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)		GTCTCTCCCAGGACAGGCACA	0.552		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)			11	31	---	---	---	---						-	7577105	G	-	7577105	7	5	453	1	0	1	0	1	0	0	0	0	16442	1000	35	0	453	0	TP53	17	7577105	Frame_Shift_Del	DEL	G	TCGA-S9-A7R7-01A-11D-A34J-08	2528326	7577105	73618105	21	35875											
TP53	7157	broad.mit.edu	37	17	7577538	7577538	+	Missense_Mutation	SNP	C	C	T	rs11540652		TCGA-S9-A7R7-01A-11D-A34J-08	TCGA-S9-A7R7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	996e2b01-43d2-4325-a00a-0f3d0400011b	b62e6aa3-04c8-46eb-a09b-6a9246c50180	g.chr17:7577538C>T	ENST00000420246.2	-	7	875	c.743G>A	c.(742-744)cGg>cAg	p.R248Q	TP53_ENST00000455263.2_Missense_Mutation_p.R248Q|TP53_ENST00000413465.2_Missense_Mutation_p.R248Q|TP53_ENST00000269305.4_Missense_Mutation_p.R248Q|TP53_ENST00000445888.2_Missense_Mutation_p.R248Q|TP53_ENST00000359597.4_Missense_Mutation_p.R248Q	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	248	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R248Q(580)|p.R248L(75)|p.R248P(19)|p.R155Q(18)|p.0?(8)|p.?(5)|p.R155L(3)|p.R155P(2)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248fs*>39(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(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)		GATGGGCCTCCGGTTCATGCC	0.572	R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	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)			24	50					0	0	1	0	0	T	7577538	C	T	7577538	3	4	453	1	0	0	0	0	1	0	0	0	16442	652	23	1	547	1	TP53	17	7577538	Missense_Mutation	SNP	C	TCGA-S9-A7R7-01A-11D-A34J-08	433	7577538	73617672	22	35876											
CDC27	996	broad.mit.edu	37	17	45216210	45216210	+	Silent	SNP	A	A	C	rs62075659		TCGA-S9-A7R7-01A-11D-A34J-08	TCGA-S9-A7R7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	996e2b01-43d2-4325-a00a-0f3d0400011b	b62e6aa3-04c8-46eb-a09b-6a9246c50180	g.chr17:45216210A>C	ENST00000066544.3	-	13	1692	c.1599T>G	c.(1597-1599)gtT>gtG	p.V533V	CDC27_ENST00000446365.2_Silent_p.V472V|CDC27_ENST00000527547.1_Silent_p.V532V|CDC27_ENST00000531206.1_Silent_p.V539V	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	533					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding	p.V533V(1)|p.V539V(1)		NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						CCATGCCTTCAACTCTATAAT	0.318													4	96					0	0	1	0	0	C	45216210	A	C	45216210	2	2	453	1	0	0	0	0	0	0	0	1	3088	117	5	5		5	CDC27	17	45216210	Silent	SNP	A	TCGA-S9-A7R7-01A-11D-A34J-08	37638672	45216210	35979000	23	35877	150	2									
CDC27	996	broad.mit.edu	37	17	45216218	45216218	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A7R7-01A-11D-A34J-08	TCGA-S9-A7R7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	996e2b01-43d2-4325-a00a-0f3d0400011b	b62e6aa3-04c8-46eb-a09b-6a9246c50180	g.chr17:45216218A>G	ENST00000066544.3	-	13	1684	c.1591T>C	c.(1591-1593)Tat>Cat	p.Y531H	CDC27_ENST00000446365.2_Missense_Mutation_p.Y470H|CDC27_ENST00000527547.1_Missense_Mutation_p.Y530H|CDC27_ENST00000531206.1_Missense_Mutation_p.Y537H	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	531					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						TCAACTCTATAATTCTCAATC	0.328													4	95					0	0	1	0	0	G	45216218	A	G	45216218	3	3	453	1	0	0	0	0	1	0	0	0	3088	362	13	3	911	3	CDC27	17	45216218	Missense_Mutation	SNP	A	TCGA-S9-A7R7-01A-11D-A34J-08	8	45216218	35978992	24	35878	150	2									
ABCA8	10351	broad.mit.edu	37	17	66933164	66933164	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A7R7-01A-11D-A34J-08	TCGA-S9-A7R7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	996e2b01-43d2-4325-a00a-0f3d0400011b	b62e6aa3-04c8-46eb-a09b-6a9246c50180	g.chr17:66933164T>C	ENST00000269080.2	-	4	531	c.394A>G	c.(394-396)Aca>Gca	p.T132A	ABCA8_ENST00000430352.2_Missense_Mutation_p.T132A|ABCA8_ENST00000586539.1_Missense_Mutation_p.T132A	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	132						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					TATGAGTATGTATTAGTAAAG	0.363													18	67					0	0	1	0	0	C	66933164	T	C	66933164	3	2	453	1	0	0	0	0	1	0	0	0	38	1638	57	3	4491	3	ABCA8	17	66933164	Missense_Mutation	SNP	T	TCGA-S9-A7R7-01A-11D-A34J-08	21716946	66933164	14262046	25	35879											
CEACAM7	1087	broad.mit.edu	37	19	42187807	42187807	+	Silent	SNP	G	G	A			TCGA-S9-A7R7-01A-11D-A34J-08	TCGA-S9-A7R7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	996e2b01-43d2-4325-a00a-0f3d0400011b	b62e6aa3-04c8-46eb-a09b-6a9246c50180	g.chr19:42187807G>A	ENST00000006724.3	-	3	816	c.615C>T	c.(613-615)agC>agT	p.S205S	CEACAM7_ENST00000401731.1_Silent_p.S205S|CEACAM7_ENST00000338196.4_Intron|CEACAM7_ENST00000602225.1_Intron	NM_006890.3	NP_008821.1	Q14002	CEAM7_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 7	205	Ig-like C2-type.					anchored to membrane|integral to membrane|plasma membrane				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(3;0.0027)|all cancers(3;0.00979)|Epithelial(262;0.0366)		TCTTTGTGGCGCTGAGTAGAA	0.537													5	238					0	0	1	0	0	A	42187807	G	A	42187807	2	1	453	1	0	0	0	0	0	0	0	1	3219	1078	38	1		1	CEACAM7	19	42187807	Silent	SNP	G	TCGA-S9-A7R7-01A-11D-A34J-08		42187807	16941176	26	35880											
MYT1	4661	broad.mit.edu	37	20	62830225	62830225	+	Frame_Shift_Del	DEL	A	A	-			TCGA-S9-A7R7-01A-11D-A34J-08	TCGA-S9-A7R7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	996e2b01-43d2-4325-a00a-0f3d0400011b	b62e6aa3-04c8-46eb-a09b-6a9246c50180	g.chr20:62830225delA	ENST00000536311.1	+	3	375	c.11delA	c.(10-12)gaafs	p.E4fs	MYT1_ENST00000328439.1_Frame_Shift_Del_p.E4fs|MYT1_ENST00000360149.4_Frame_Shift_Del_p.E4fs			Q01538	MYT1_HUMAN	myelin transcription factor 1	4					cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					ATGAGCTTAGAAAATGAAGAC	0.552													27	73	---	---	---	---						-	62830225	A	-	62830225	7	5	453	1	0	1	0	1	0	0	0	0	10154	246	9	0	13	0	MYT1	20	62830225	Frame_Shift_Del	DEL	A	TCGA-S9-A7R7-01A-11D-A34J-08		62830225	195295	27	35881											
BCOR	54880	broad.mit.edu	37	X	39932980	39932981	+	Frame_Shift_Ins	INS	-	-	G			TCGA-S9-A7R7-01A-11D-A34J-08	TCGA-S9-A7R7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	996e2b01-43d2-4325-a00a-0f3d0400011b	b62e6aa3-04c8-46eb-a09b-6a9246c50180	g.chrX:39932980_39932981insG	ENST00000342274.4	-	4	1980_1981	c.1618_1619insC	c.(1618-1620)cggfs	p.R540fs	BCOR_ENST00000397354.3_Frame_Shift_Ins_p.R540fs|BCOR_ENST00000378444.4_Frame_Shift_Ins_p.R540fs|BCOR_ENST00000378455.4_Frame_Shift_Ins_p.R540fs	NM_001123383.1	NP_001116855.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	540					heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						TGATGAACTCCGCTGCTGTGGT	0.594			"F, N, S, T"	RARA	"retinoblastoma, AML, APL(translocation)"		oculo-facio-cardio-dental genetic						39	29	---	---	---	---						G	39932981	-	G	39932980	7	5	453	1	0	1	1	0	0	0	0	0	1384	652	23	0	3696	0	BCOR	23	39932980	Frame_Shift_Ins	INS	-	TCGA-S9-A7R7-01A-11D-A34J-08		39932980	115337580	28	35882											
ATRX	546	broad.mit.edu	37	X	76940000	76940000	+	Nonsense_Mutation	SNP	G	G	A			TCGA-S9-A7R7-01A-11D-A34J-08	TCGA-S9-A7R7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	996e2b01-43d2-4325-a00a-0f3d0400011b	b62e6aa3-04c8-46eb-a09b-6a9246c50180	g.chrX:76940000G>A	ENST00000373344.5	-	9	962	c.748C>T	c.(748-750)Cga>Tga	p.R250*	ATRX_ENST00000395603.3_Nonsense_Mutation_p.R212*|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	250	ADD.				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)	AACTCCTTTCGACCAAGGTTG	0.418			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						99	93					0	0	1	0	0	A	76940000	G	A	76940000	4	1	453	1	0	0	0	0	0	1	0	0	1206	1066	37	1	6838	1	ATRX	23	76940000	Nonsense_Mutation	SNP	G	TCGA-S9-A7R7-01A-11D-A34J-08	37007020	76940000	78330560	29	35883											
OR6Y1	391112	broad.mit.edu	37	1	158517240	158517240	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chr1:158517240A>G	ENST00000302617.3	-	1	655	c.656T>C	c.(655-657)gTg>gCg	p.V219A		NM_001005189.1	NP_001005189.1	Q8NGX8	OR6Y1_HUMAN	olfactory receptor, family 6, subfamily Y, member 1	219					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_hematologic(112;0.0378)					GGATGCCACCACAACACAAAG	0.552													23	48					0	0	1	0	0	G	158517240	A	G	158517240	3	3	454	1	0	0	0	0	1	0	0	0	11260	159	6	3	323	3	OR6Y1	1	158517240	Missense_Mutation	SNP	A	TCGA-S9-A7R8-01A-11D-A34J-08		158517240	90733381	1	35884											
SLAMF9	89886	broad.mit.edu	37	1	159922090	159922090	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chr1:159922090A>G	ENST00000368093.3	-	3	742	c.626T>C	c.(625-627)gTc>gCc	p.V209A	SLAMF9_ENST00000368092.3_Intron|SLAMF9_ENST00000466773.1_5'UTR	NM_033438.3	NP_254273.2	Q96A28	SLAF9_HUMAN	SLAM family member 9	209	Ig-like C2-type.					integral to membrane				breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	13	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GCAAGAACTGACGTTGCTGAT	0.567													41	58					0	0	1	0	0	G	159922090	A	G	159922090	3	3	454	1	0	0	0	0	1	0	0	0	14426	275	10	3	251	3	SLAMF9	1	159922090	Missense_Mutation	SNP	A	TCGA-S9-A7R8-01A-11D-A34J-08	1404850	159922090	89328531	2	35885											
GPR52	9293	broad.mit.edu	37	1	174417494	174417494	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chr1:174417494C>T	ENST00000367685.2	+	1	283	c.245C>T	c.(244-246)aCg>aTg	p.T82M	RABGAP1L_ENST00000357444.6_Intron|RABGAP1L_ENST00000367689.3_Intron|RABGAP1L_ENST00000251507.4_Intron	NM_005684.4	NP_005675.3	Q9Y2T5	GPR52_HUMAN	G protein-coupled receptor 52	82						integral to plasma membrane	G-protein coupled receptor activity			breast(3)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|prostate(1)|skin(2)	20						TTCATTCAGACGATGGCATAT	0.428													5	242					0	0	1	0	0	T	174417494	C	T	174417494	3	4	454	1	0	0	0	0	1	0	0	0	6738	536	19	1	247	1	GPR52	1	174417494	Missense_Mutation	SNP	C	TCGA-S9-A7R8-01A-11D-A34J-08	14495404	174417494	74833127	3	35886											
RASAL2	9462	broad.mit.edu	37	1	178427190	178427190	+	Silent	SNP	G	G	A			TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chr1:178427190G>A	ENST00000448150.3	+	14	3548	c.2730G>A	c.(2728-2730)tcG>tcA	p.S910S	RASAL2_ENST00000462775.1_Silent_p.S780S|RASAL2_ENST00000367649.3_Silent_p.S921S	NM_170692.2	NP_733793.2	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2	780					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity			biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						AGCCCTTGTCGTTCCAGAACC	0.542													12	60					0	0	1	0	0	A	178427190	G	A	178427190	2	1	454	1	0	0	0	0	0	0	0	1	13116	1132	40	1		1	RASAL2	1	178427190	Silent	SNP	G	TCGA-S9-A7R8-01A-11D-A34J-08	4009696	178427190	70823431	4	35887											
ADCY3	109	broad.mit.edu	37	2	25141329	25141329	+	Silent	SNP	G	G	A			TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chr2:25141329G>A	ENST00000260600.5	-	1	1379	c.528C>T	c.(526-528)gtC>gtT	p.V176V		NM_004036.3	NP_004027.2	O60266	ADCY3_HUMAN	adenylate cyclase 3	176					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|sensory perception of smell|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to plasma membrane	ATP binding|calmodulin binding|metal ion binding			NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					AGAAGGAGAAGACAAAGAAGA	0.612													38	33					0	0	1	0	0	A	25141329	G	A	25141329	2	1	454	1	0	0	0	0	0	0	0	1	294	929	33	2		2	ADCY3	2	25141329	Silent	SNP	G	TCGA-S9-A7R8-01A-11D-A34J-08		25141329	218058044	5	35888											
GALNT5	11227	broad.mit.edu	37	2	158115046	158115046	+	Missense_Mutation	SNP	C	C	A			TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chr2:158115046C>A	ENST00000259056.4	+	1	937	c.452C>A	c.(451-453)cCt>cAt	p.P151H		NM_014568.1	NP_055383.1	Q7Z7M9	GALT5_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5)	151					glycosaminoglycan biosynthetic process	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(4)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	56						GGCACCAAACCTGAAGCCTCC	0.542													11	38					0.00316338	0.00316338	1	1	0	A	158115046	C	A	158115046	3	1	454	1	0	0	0	0	1	0	0	0	6256	681	24	4	454	4	GALNT5	2	158115046	Missense_Mutation	SNP	C	TCGA-S9-A7R8-01A-11D-A34J-08	132973717	158115046	85084327	6	35889											
MARCH7	64844	broad.mit.edu	37	2	160605198	160605198	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chr2:160605198C>T	ENST00000259050.4	+	5	1519	c.1397C>T	c.(1396-1398)tCg>tTg	p.S466L	MARCH7_ENST00000409591.1_Missense_Mutation_p.S428L|MARCH7_ENST00000539065.1_Missense_Mutation_p.S410L|MARCH7_ENST00000409175.1_Missense_Mutation_p.S466L	NM_001282805.1|NM_001282807.1|NM_022826.2	NP_001269734.1|NP_001269736.1|NP_073737.1	Q9H992	MARH7_HUMAN	membrane-associated ring finger (C3HC4) 7, E3 ubiquitin protein ligase								ligase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(2)	18						ACATCAGATTCGGCTCAAGGT	0.493													5	240					0	0	1	0	0	T	160605198	C	T	160605198	3	4	454	1	0	0	0	0	1	0	0	0	9356	893	31	1	1411	1	MARCH7	2	160605198	Missense_Mutation	SNP	C	TCGA-S9-A7R8-01A-11D-A34J-08	2490152	160605198	82594175	7	35890											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								40	70					0	0	1	0	0	T	209113112	C	T	209113112	3	4	454	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-S9-A7R8-01A-11D-A34J-08	48507914	209113112	34086261	8	35891											
CAPN10	11132	broad.mit.edu	37	2	241531435	241531435	+	Frame_Shift_Del	DEL	A	A	-			TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chr2:241531435delA	ENST00000391984.2	+	4	752	c.556delA	c.(556-558)aacfs	p.N186fs	CAPN10_ENST00000270364.7_Intron|CAPN10_ENST00000354082.4_Frame_Shift_Del_p.N186fs|CAPN10_ENST00000391982.2_Frame_Shift_Del_p.N186fs|CAPN10_ENST00000404753.3_Frame_Shift_Del_p.N186fs|CAPN10_ENST00000352879.4_Intron	NM_023083.3	NP_075571	Q9HC96	CAN10_HUMAN	calpain 10	186	Calpain catalytic.				actin cytoskeleton reorganization|cellular response to insulin stimulus|positive regulation of apoptosis|positive regulation of glucose import|positive regulation of insulin secretion|positive regulation of intracellular transport|proteolysis	cytosol|plasma membrane	calcium-dependent cysteine-type endopeptidase activity|cytoskeletal protein binding|SNARE binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|urinary_tract(1)	27		all_epithelial(40;1.72e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.13e-31)|all cancers(36;3.24e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.82e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.1e-06)|Lung(119;0.00168)|Colorectal(34;0.00495)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.032)		AGAAAGATGGAACCTGAAGGG	0.657													2	4	---	---	---	---						-	241531435	A	-	241531435	7	5	454	1	0	1	0	1	0	0	0	0	2641	246	9	0	570	0	CAPN10	2	241531435	Frame_Shift_Del	DEL	A	TCGA-S9-A7R8-01A-11D-A34J-08	32418323	241531435	1667938	9	35892											
SLC25A38	54977	broad.mit.edu	37	3	39433035	39433035	+	Missense_Mutation	SNP	T	T	A			TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chr3:39433035T>A	ENST00000273158.4	+	4	757	c.380T>A	c.(379-381)gTc>gAc	p.V127D		NM_017875.2	NP_060345.2	Q96DW6	S2538_HUMAN	solute carrier family 25, member 38	127					erythrocyte differentiation|heme biosynthetic process|transport	integral to membrane|mitochondrial inner membrane				breast(1)|endometrium(1)|large_intestine(1)|lung(6)|skin(1)|stomach(1)	11				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		CTGGAGTCAGTCATGCTGGGG	0.527													5	275					0	0	1	0	0	A	39433035	T	A	39433035	3	1	454	1	0	0	0	0	1	0	0	0	14557	1667	58	5	394	5	SLC25A38	3	39433035	Missense_Mutation	SNP	T	TCGA-S9-A7R8-01A-11D-A34J-08		39433035	158589395	10	35893											
TKT	7086	broad.mit.edu	37	3	53264614	53264614	+	Silent	SNP	C	C	T			TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chr3:53264614C>T	ENST00000462138.1	-	8	1054	c.966G>A	c.(964-966)ggG>ggA	p.G322G	TKT_ENST00000461139.1_5'UTR|TKT_ENST00000423525.2_Silent_p.G322G|TKT_ENST00000423516.1_Silent_p.G330G|TKT_ENST00000296289.6_Silent_p.G275G			P29401	TKT_HUMAN	transketolase	322					energy reserve metabolic process|xylulose biosynthetic process	cytosol	protein binding|transketolase activity			endometrium(5)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17		Prostate(884;0.0959)		BRCA - Breast invasive adenocarcinoma(193;0.000159)|OV - Ovarian serous cystadenocarcinoma(275;0.000314)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)	Thiamine(DB00152)	CCAGTGCCTGCCCGTAGGCCT	0.597													16	28					0	0	1	0	0	T	53264614	C	T	53264614	2	4	454	1	0	0	0	0	0	0	0	1	15994	726	26	2		2	TKT	3	53264614	Silent	SNP	C	TCGA-S9-A7R8-01A-11D-A34J-08	13831579	53264614	144757816	11	35894											
FAM193A	8603	broad.mit.edu	37	4	2701539	2701539	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chr4:2701539C>T	ENST00000324666.5	+	17	3118	c.2767C>T	c.(2767-2769)Cgg>Tgg	p.R923W	FAM193A_ENST00000505311.1_Missense_Mutation_p.R923W|FAM193A_ENST00000545951.1_Missense_Mutation_p.R923W|FAM193A_ENST00000382839.3_Missense_Mutation_p.R923W|FAM193A_ENST00000502458.1_Missense_Mutation_p.R945W	NM_001256666.1	NP_001243595.1	P78312	F193A_HUMAN	family with sequence similarity 193, member A	923										NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	40						GGAATTTCAGCGGCTTCAGGA	0.537													4	52					0	0	1	0	0	T	2701539	C	T	2701539	3	4	454	1	0	0	0	0	1	0	0	0	5556	759	27	1	2825	1	FAM193A	4	2701539	Missense_Mutation	SNP	C	TCGA-S9-A7R8-01A-11D-A34J-08		2701539	188452737	12	35895											
KCNN2	3781	broad.mit.edu	37	5	113698614	113698614	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chr5:113698614T>C	ENST00000512097.3	+	2	1160	c.142T>C	c.(142-144)Tcc>Ccc	p.S48P	KCNN2_ENST00000264773.3_Missense_Mutation_p.S48P			Q9H2S1	KCNN2_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2	48						integral to membrane	calmodulin binding|small conductance calcium-activated potassium channel activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)		CGGCGCGTCCTCCCCGTCTGC	0.692													3	15					0	0	1	0	0	C	113698614	T	C	113698614	3	2	454	1	0	0	0	0	1	0	0	0	8123	1551	54	3	144	3	KCNN2	5	113698614	Missense_Mutation	SNP	T	TCGA-S9-A7R8-01A-11D-A34J-08		113698614	67216646	13	35896											
RUNX2	860	broad.mit.edu	37	6	45390482	45390482	+	Missense_Mutation	SNP	C	C	G			TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chr6:45390482C>G	ENST00000371438.1	+	2	569	c.211C>G	c.(211-213)Cag>Gag	p.Q71E	RUNX2_ENST00000371436.6_Missense_Mutation_p.Q71E|RUNX2_ENST00000359524.5_Missense_Mutation_p.Q57E|RUNX2_ENST00000541979.1_Missense_Mutation_p.Q139E|RUNX2_ENST00000371432.3_Missense_Mutation_p.Q57E|RUNX2_ENST00000352853.5_Missense_Mutation_p.Q139E|RUNX2_ENST00000576263.1_Missense_Mutation_p.Q71E|RUNX2_ENST00000465038.2_Missense_Mutation_p.Q71E	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	71	Poly-Gln.				negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						gcagcagcagcaggaggcggc	0.716													4	18					0	0	1	0	0	G	45390482	C	G	45390482	3	3	454	1	0	0	0	0	1	0	0	0	13800	711	25	5	233	5	RUNX2	6	45390482	Missense_Mutation	SNP	C	TCGA-S9-A7R8-01A-11D-A34J-08		45390482	125724585	14	35897											
BCLAF1	9774	broad.mit.edu	37	6	136596694	136596694	+	Missense_Mutation	SNP	C	C	A			TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chr6:136596694C>A	ENST00000531224.1	-	6	2080	c.1828G>T	c.(1828-1830)Gtg>Ttg	p.V610L	BCLAF1_ENST00000392348.2_Missense_Mutation_p.V608L|BCLAF1_ENST00000353331.4_Missense_Mutation_p.V608L|BCLAF1_ENST00000530767.1_Missense_Mutation_p.V437L|BCLAF1_ENST00000527536.1_Missense_Mutation_p.V610L|BCLAF1_ENST00000527759.1_Missense_Mutation_p.V608L	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	610					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		ACCAAGGACACAATGTGTTGA	0.353													14	123					5.35267e-07	5.42701e-07	1	1	0	A	136596694	C	A	136596694	3	1	454	1	0	0	0	0	1	0	0	0	1381	478	17	5	966	5	BCLAF1	6	136596694	Missense_Mutation	SNP	C	TCGA-S9-A7R8-01A-11D-A34J-08	91206212	136596694	34518373	15	35898											
TPST1	8460	broad.mit.edu	37	7	65705883	65705883	+	Nonsense_Mutation	SNP	T	T	A			TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chr7:65705883T>A	ENST00000304842.5	+	2	896	c.471T>A	c.(469-471)tgT>tgA	p.C157*	TPST1_ENST00000480281.1_Intron	NM_003596.3	NP_003587.1	O60507	TPST1_HUMAN	tyrosylprotein sulfotransferase 1	157					inflammatory response|peptidyl-tyrosine sulfation	Golgi membrane|integral to membrane|membrane fraction	protein-tyrosine sulfotransferase activity			NS(1)|biliary_tract(1)|breast(1)|kidney(3)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11						CTTATTTATGTAATAAAGATC	0.443													46	35					0	0	1	0	0	A	65705883	T	A	65705883	4	1	454	1	0	0	0	0	0	1	0	0	16488	1644	57	5	473	5	TPST1	7	65705883	Nonsense_Mutation	SNP	T	TCGA-S9-A7R8-01A-11D-A34J-08		65705883	93432780	16	35899											
SEMA3A	10371	broad.mit.edu	37	7	83823801	83823801	+	Missense_Mutation	SNP	T	T	G			TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chr7:83823801T>G	ENST00000265362.4	-	1	416	c.102A>C	c.(100-102)ttA>ttC	p.L34F	SEMA3A_ENST00000436949.1_Missense_Mutation_p.L34F	NM_006080.2	NP_006071.1	Q14563	SEM3A_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A		Sema.				axon guidance	extracellular region|membrane	receptor activity			breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						CTTTGTAGGATAATTTCAGCC	0.408													62	75					0	0	1	0	0	G	83823801	T	G	83823801	3	3	454	1	0	0	0	0	1	0	0	0	14078	1403	49	4	2281	4	SEMA3A	7	83823801	Missense_Mutation	SNP	T	TCGA-S9-A7R8-01A-11D-A34J-08	18117918	83823801	75314862	17	35900											
FZD1	8321	broad.mit.edu	37	7	90895601	90895601	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chr7:90895601A>G	ENST00000287934.2	+	1	1819	c.1406A>G	c.(1405-1407)gAc>gGc	p.D469G		NM_003505.1	NP_003496.1	Q9UP38	FZD1_HUMAN	frizzled family receptor 1	469					autocrine signaling|axonogenesis|brain development|canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|embryo development|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|lung alveolus development|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to drug|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cell surface|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|receptor binding|Wnt receptor activity|Wnt-protein binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24	all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215)		STAD - Stomach adenocarcinoma(171;0.0134)			GGCCAGGTGGACGGCGATGTG	0.632													69	109					0	0	1	0	0	G	90895601	A	G	90895601	3	3	454	1	0	0	0	0	1	0	0	0	6163	275	10	3	1408	3	FZD1	7	90895601	Missense_Mutation	SNP	A	TCGA-S9-A7R8-01A-11D-A34J-08	7071800	90895601	68243062	18	35901											
MUC17	140453	broad.mit.edu	37	7	100677440	100677440	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chr7:100677440C>T	ENST00000306151.4	+	3	2807	c.2743C>T	c.(2743-2745)Cca>Tca	p.P915S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	915	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TACCAGCATGCCAACCTCAAC	0.507													7	635					0	0	1	0	0	T	100677440	C	T	100677440	3	4	454	1	0	0	0	0	1	0	0	0	10022	739	26	2	2753	2	MUC17	7	100677440	Missense_Mutation	SNP	C	TCGA-S9-A7R8-01A-11D-A34J-08	9781839	100677440	58461223	19	35902											
KIF13B	23303	broad.mit.edu	37	8	29043864	29043864	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chr8:29043864C>T	ENST00000524189.1	-	6	480	c.442G>A	c.(442-444)Gtg>Atg	p.V148M	KIF13B_ENST00000521515.1_Missense_Mutation_p.V148M	NM_015254.3	NP_056069.2	Q9NQT8	KI13B_HUMAN	kinesin family member 13B	148	Kinesin-motor.				microtubule-based movement|protein targeting|signal transduction|T cell activation	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein kinase binding			endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		ATGTAGGACACTTCTACTTTA	0.393													10	177					0	0	1	0	0	T	29043864	C	T	29043864	3	4	454	1	0	0	0	0	1	0	0	0	8317	565	20	2	5178	2	KIF13B	8	29043864	Missense_Mutation	SNP	C	TCGA-S9-A7R8-01A-11D-A34J-08		29043864	117320158	20	35903											
MAPK15	225689	broad.mit.edu	37	8	144802971	144802971	+	Nonsense_Mutation	SNP	T	T	G			TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chr8:144802971T>G	ENST00000338033.4	+	9	997	c.878T>G	c.(877-879)tTa>tGa	p.L293*		NM_139021.2	NP_620590.2	Q8TD08	MK15_HUMAN	mitogen-activated protein kinase 15	293	Protein kinase.				protein autophosphorylation	extracellular region	ATP binding|MAP kinase activity|SH3 domain binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|stomach(1)	12	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			GACAAGCGGTTAAGCGCGACC	0.672													15	23					0	0	1	0	0	G	144802971	T	G	144802971	4	3	454	1	0	0	0	0	0	1	0	0	9327	1764	61	5	912	5	MAPK15	8	144802971	Nonsense_Mutation	SNP	T	TCGA-S9-A7R8-01A-11D-A34J-08	115759107	144802971	1561051	21	35904											
TJP2	9414	broad.mit.edu	37	9	71861646	71861646	+	Silent	SNP	C	C	T			TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chr9:71861646C>T	ENST00000377245.4	+	18	2815	c.2607C>T	c.(2605-2607)ggC>ggT	p.G869G	TJP2_ENST00000265384.7_Silent_p.G869G|TJP2_ENST00000498204.1_3'UTR|TJP2_ENST00000348208.4_Silent_p.G869G|TJP2_ENST00000535702.1_Silent_p.G873G|TJP2_ENST00000539225.1_Silent_p.G900G|TJP2_ENST00000453658.2_Silent_p.G846G	NM_004817.3	NP_004808.2	Q9UDY2	ZO2_HUMAN	tight junction protein 2	869	Guanylate kinase-like.				cellular component disassembly involved in apoptosis	adherens junction|cytoplasm|nucleus|tight junction	guanylate kinase activity|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(5)|lung(9)|prostate(3)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	35						GCTGGTTTGGCAGCTTAAAGG	0.408													4	99					0	0	1	0	0	T	71861646	C	T	71861646	2	4	454	1	0	0	0	0	0	0	0	1	15990	697	25	2		2	TJP2	9	71861646	Silent	SNP	C	TCGA-S9-A7R8-01A-11D-A34J-08		71861646	69351785	22	35905											
RASEF	158158	broad.mit.edu	37	9	85605368	85605368	+	Missense_Mutation	SNP	T	T	G			TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chr9:85605368T>G	ENST00000376447.3	-	16	2315	c.2055A>C	c.(2053-2055)ttA>ttC	p.L685F		NM_152573.2	NP_689786.2	Q8IZ41	RASEF_HUMAN	RAS and EF-hand domain containing	685					protein transport|small GTPase mediated signal transduction	perinuclear region of cytoplasm	calcium ion binding|GTP binding			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(4)|liver(1)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						TTTCACAGAATAATGCCCCAT	0.348													48	59					0	0	1	0	0	G	85605368	T	G	85605368	3	3	454	1	0	0	0	0	1	0	0	0	13120	1403	49	4	175	4	RASEF	9	85605368	Missense_Mutation	SNP	T	TCGA-S9-A7R8-01A-11D-A34J-08	13743722	85605368	55608063	23	35906											
CEP55	55165	broad.mit.edu	37	10	95276727	95276727	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chr10:95276727G>A	ENST00000371485.3	+	6	1019	c.715G>A	c.(715-717)Gat>Aat	p.D239N		NM_001127182.1|NM_018131.4	NP_001120654|NP_060601	Q53EZ4	CEP55_HUMAN	centrosomal protein 55kDa	239					cell division|mitosis	centriole|cleavage furrow|midbody				kidney(1)|large_intestine(5)|lung(6)|stomach(1)	13		Colorectal(252;0.207)				ATGTTACAACGATCTCTTGGC	0.333													22	54					0	0	1	0	0	A	95276727	G	A	95276727	3	1	454	1	0	0	0	0	1	0	0	0	3277	1058	37	1	733	1	CEP55	10	95276727	Missense_Mutation	SNP	G	TCGA-S9-A7R8-01A-11D-A34J-08		95276727	40258020	24	35907											
FAM24A	118670	broad.mit.edu	37	10	124671156	124671156	+	Silent	SNP	A	A	G			TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chr10:124671156A>G	ENST00000368894.1	+	2	127	c.6A>G	c.(4-6)gcA>gcG	p.A2A		NM_001029888.1	NP_001025059.1	A6NFZ4	FA24A_HUMAN	family with sequence similarity 24, member A	2						extracellular region				large_intestine(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	9		all_neural(114;0.169)|Glioma(114;0.222)		Colorectal(40;0.124)|COAD - Colon adenocarcinoma(40;0.141)		TAGGCATGGCAAAGATGTTTG	0.502													78	108					0	0	1	0	0	G	124671156	A	G	124671156	2	3	454	1	0	0	0	0	0	0	0	1	5580	117	5	3		3	FAM24A	10	124671156	Silent	SNP	A	TCGA-S9-A7R8-01A-11D-A34J-08	29394429	124671156	10863591	25	35908											
CNGA4	1262	broad.mit.edu	37	11	6261635	6261635	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chr11:6261635C>T	ENST00000379936.2	+	4	726	c.611C>T	c.(610-612)cCg>cTg	p.P204L	CNGA4_ENST00000533426.1_Intron	NM_001037329.3	NP_001032406.1	Q8IV77	CNGA4_HUMAN	cyclic nucleotide gated channel alpha 4	204					response to stimulus|sensory perception of smell		cAMP binding			endometrium(2)|kidney(1)|large_intestine(9)|lung(24)|prostate(3)|skin(1)	40		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGGGTGTACCCGGACCCCGCG	0.567													16	169					0	0	1	0	0	T	6261635	C	T	6261635	3	4	454	1	0	0	0	0	1	0	0	0	3622	652	23	1	625	1	CNGA4	11	6261635	Missense_Mutation	SNP	C	TCGA-S9-A7R8-01A-11D-A34J-08		6261635	128744881	26	35909											
KRT73	319101	broad.mit.edu	37	12	53008439	53008439	+	Missense_Mutation	SNP	G	G	A	rs142246988	byFrequency	TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chr12:53008439G>A	ENST00000305748.3	-	4	777	c.743C>T	c.(742-744)aCg>aTg	p.T248M	RP11-641A6.2_ENST00000552364.1_RNA	NM_175068.2	NP_778238.1	Q86Y46	K2C73_HUMAN	keratin 73	248	Coil 1B.|Rod.		T -> M (in a colorectal cancer sample; somatic mutation).			keratin filament	structural molecule activity	p.T248M(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.189)		CACTTTGCTCGTGTAAGCTGC	0.577													42	38					0	0	1	0	0	A	53008439	G	A	53008439	3	1	454	1	0	0	0	0	1	0	0	0	8529	1145	40	1	903	1	KRT73	12	53008439	Missense_Mutation	SNP	G	TCGA-S9-A7R8-01A-11D-A34J-08		53008439	80843456	27	35910											
MMAB	326625	broad.mit.edu	37	12	109998861	109998861	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chr12:109998861G>A	ENST00000545712.2	-	7	961	c.568C>T	c.(568-570)Cgc>Tgc	p.R190C	MMAB_ENST00000266839.5_Missense_Mutation_p.R99C|MMAB_ENST00000540016.1_Missense_Mutation_p.R138C	NM_052845.3	NP_443077.1	Q96EY8	MMAB_HUMAN	methylmalonic aciduria (cobalamin deficiency) cblB type	190					cobalamin biosynthetic process	mitochondrion	ATP binding|cob(I)yrinic acid a,c-diamide adenosyltransferase activity			cervix(1)|kidney(1)|large_intestine(2)|lung(1)|urinary_tract(1)	6					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TCGGCCCGGCGGCACACGGCC	0.652													10	42					0	0	1	0	0	A	109998861	G	A	109998861	3	1	454	1	0	0	0	0	1	0	0	0	9688	1116	39	1	196	1	MMAB	12	109998861	Missense_Mutation	SNP	G	TCGA-S9-A7R8-01A-11D-A34J-08	56990422	109998861	23853034	28	35911											
MYH6	4624	broad.mit.edu	37	14	23874315	23874315	+	Missense_Mutation	SNP	A	A	T			TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chr14:23874315A>T	ENST00000405093.3	-	6	594	c.524T>A	c.(523-525)cTc>cAc	p.L175H	MYH6_ENST00000356287.3_Missense_Mutation_p.L175H	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	175	Myosin head-like.				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		TCACGTGATGAGGATGGACTG	0.582													4	123					0	0	1	0	0	T	23874315	A	T	23874315	3	4	454	1	0	0	0	0	1	0	0	0	10086	304	11	5	5431	5	MYH6	14	23874315	Missense_Mutation	SNP	A	TCGA-S9-A7R8-01A-11D-A34J-08		23874315	83475225	29	35912											
LTB4R	1241	broad.mit.edu	37	14	24785430	24785430	+	Silent	SNP	G	G	T			TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chr14:24785430G>T	ENST00000396789.4	+	2	2298	c.573G>T	c.(571-573)ctG>ctT	p.L191L	LTB4R_ENST00000345363.3_Silent_p.L191L|LTB4R_ENST00000396782.2_Silent_p.L191L	NM_181657.3	NP_858043.1	Q15722	LT4R1_HUMAN	leukotriene B4 receptor	191					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular component movement|immune response|inflammatory response|muscle contraction	integral to plasma membrane	nucleotide binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|stomach(1)	8				GBM - Glioblastoma multiforme(265;0.018)		CGGGCTTCCTGCTGCCCTTCC	0.672													86	48					2.56433e-40	2.63656e-40	1	1	0	T	24785430	G	T	24785430	2	4	454	1	0	0	0	0	0	0	0	1	9116	1306	46	5		5	LTB4R	14	24785430	Silent	SNP	G	TCGA-S9-A7R8-01A-11D-A34J-08	911115	24785430	82564110	30	35913											
FAM96A	84191	broad.mit.edu	37	15	64381046	64381046	+	Missense_Mutation	SNP	C	C	G			TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chr15:64381046C>G	ENST00000557835.1	-	2	155	c.129G>C	c.(127-129)ttG>ttC	p.L43F	FAM96A_ENST00000380290.3_Missense_Mutation_p.L43F|FAM96A_ENST00000559950.1_Missense_Mutation_p.L43F|FAM96A_ENST00000300030.3_Missense_Mutation_p.L43F			Q9H5X1	FA96A_HUMAN	family with sequence similarity 96, member A	43					chromosome segregation					kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	9						TAGTTCTAATCAAATCTAAAG	0.348													36	38					0	0	1	0	0	G	64381046	C	G	64381046	3	3	454	1	0	0	0	0	1	0	0	0	5687	825	29	5	369	5	FAM96A	15	64381046	Missense_Mutation	SNP	C	TCGA-S9-A7R8-01A-11D-A34J-08		64381046	38150346	31	35914											
CACNA1H	8912	broad.mit.edu	37	16	1268228	1268228	+	Frame_Shift_Del	DEL	T	T	-			TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chr16:1268228delT	ENST00000348261.5	+	33	5712	c.5464delT	c.(5464-5466)tccfs	p.S1822fs	CACNA1H_ENST00000565831.1_Frame_Shift_Del_p.S1816fs|CACNA1H_ENST00000358590.4_Frame_Shift_Del_p.S1816fs	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	1822					aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	GCGCGAGTGCTCCCGTGAGGA	0.697													2	4	---	---	---	---						-	1268228	T	-	1268228	7	5	454	1	0	1	0	1	0	0	0	0	2563	1551	54	0	5590	0	CACNA1H	16	1268228	Frame_Shift_Del	DEL	T	TCGA-S9-A7R8-01A-11D-A34J-08		1268228	89086525	32	35915											
SLC9A3R2	9351	broad.mit.edu	37	16	2087555	2087555	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chr16:2087555C>T	ENST00000424542.2	+	6	947	c.809C>T	c.(808-810)gCg>gTg	p.A270V	SLC9A3R2_ENST00000566198.1_Missense_Mutation_p.A159V|SLC9A3R2_ENST00000563587.1_Missense_Mutation_p.A164V|SLC9A3R2_ENST00000432365.2_Missense_Mutation_p.A270V	NM_001130012.2|NM_004785.5	NP_001123484.1|NP_004776.3	Q15599	NHRF2_HUMAN	solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 regulator 2	270					protein complex assembly	apical plasma membrane|endomembrane system|nucleus	beta-catenin binding|phosphatase binding|protein C-terminus binding|receptor binding			central_nervous_system(1)|endometrium(1)	2						GGTGGCTCTGCGTGCTCGTCC	0.582													3	23					0	0	1	0	0	T	2087555	C	T	2087555	3	4	454	1	0	0	0	0	1	0	0	0	14770	768	27	1	831	1	SLC9A3R2	16	2087555	Missense_Mutation	SNP	C	TCGA-S9-A7R8-01A-11D-A34J-08	819327	2087555	88267198	33	35916											
NOMO2	283820	broad.mit.edu	37	16	18554945	18554945	+	Silent	SNP	A	A	C			TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chr16:18554945A>C	ENST00000330537.6	-	7	899	c.729T>G	c.(727-729)acT>acG	p.T243T	NOMO2_ENST00000543392.1_Silent_p.T76T|NOMO2_ENST00000381474.3_Silent_p.T243T	NM_173614.2	NP_775885.1	Q5JPE7	NOMO2_HUMAN	NODAL modulator 2	243						endoplasmic reticulum membrane|integral to membrane	carbohydrate binding|carboxypeptidase activity|protein binding			endometrium(4)|kidney(1)|large_intestine(2)|liver(3)|lung(5)|ovary(3)|prostate(1)|skin(1)	20						TTACCTCTTTAGTTACTAAAG	0.438													53	92					0	0	1	0	0	C	18554945	A	C	18554945	2	2	454	1	0	0	0	0	0	0	0	1	10579	407	15	5		5	NOMO2	16	18554945	Silent	SNP	A	TCGA-S9-A7R8-01A-11D-A34J-08	16467390	18554945	71799808	34	35917											
TP53	7157	broad.mit.edu	37	17	7577124	7577124	+	Missense_Mutation	SNP	C	C	T	rs121912657		TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chr17:7577124C>T	ENST00000420246.2	-	8	946	c.814G>A	c.(814-816)Gtg>Atg	p.V272M	TP53_ENST00000359597.4_Missense_Mutation_p.V272M|TP53_ENST00000445888.2_Missense_Mutation_p.V272M|TP53_ENST00000455263.2_Missense_Mutation_p.V272M|TP53_ENST00000413465.2_Intron|TP53_ENST00000269305.4_Missense_Mutation_p.V272M	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	272	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		V -> A (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|V -> E (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|V -> M (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.V272M(82)|p.V272L(26)|p.0?(8)|p.V272fs*73(4)|p.?(2)|p.F270fs*72(1)|p.E271fs*73(1)|p.V272fs*34(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.G266_E271delGRNSFE(1)|p.V272fs*74(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(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)		CAAACACGCACCTCAAAGCTG	0.527		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)			30	2					0	0	1	0	0	T	7577124	C	T	7577124	3	4	454	1	0	0	0	0	1	0	0	0	16442	507	18	2	472	2	TP53	17	7577124	Missense_Mutation	SNP	C	TCGA-S9-A7R8-01A-11D-A34J-08		7577124	73618086	35	35918											
DNAH17	8632	broad.mit.edu	37	17	76491163	76491163	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chr17:76491163C>T	ENST00000389840.5	-	39	6002	c.5878G>A	c.(5878-5880)Gtc>Atc	p.V1960I	DNAH17_ENST00000585328.1_Missense_Mutation_p.V1969I|RP11-559N14.5_ENST00000591373.1_RNA					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			AAGTCGGGGACGACCATGGCA	0.607													4	8					0	0	1	0	0	T	76491163	C	T	76491163	3	4	454	1	0	0	0	0	1	0	0	0	4629	536	19	1	7640	1	DNAH17	17	76491163	Missense_Mutation	SNP	C	TCGA-S9-A7R8-01A-11D-A34J-08	68914039	76491163	4704047	36	35919											
C3	718	broad.mit.edu	37	19	6677968	6677968	+	Silent	SNP	G	G	A			TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chr19:6677968G>A	ENST00000245907.6	-	41	5009	c.4917C>T	c.(4915-4917)gaC>gaT	p.D1639D	C3_ENST00000599668.1_5'UTR	NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	1639	NTR.				complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		GGTTCTCTTCGTCTTGGCATT	0.597													32	51					0	0	1	0	0	A	6677968	G	A	6677968	2	1	454	1	0	0	0	0	0	0	0	1	2218	1136	40	1		1	C3	19	6677968	Silent	SNP	G	TCGA-S9-A7R8-01A-11D-A34J-08		6677968	52451015	37	35920											
JAK3	3718	broad.mit.edu	37	19	17954587	17954587	+	Splice_Site	SNP	G	G	A			TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chr19:17954587G>A	ENST00000458235.1	-	3	406	c.307C>T	c.(307-309)Cgc>Tgc	p.R103C	JAK3_ENST00000527670.1_Splice_Site_p.R103C|JAK3_ENST00000526008.1_5'UTR|JAK3_ENST00000534444.1_Splice_Site_p.R103C	NM_000215.3	NP_000206.2	P52333	JAK3_HUMAN	Janus kinase 3	103	FERM.|Interaction with cytokine/interferon/growth hormone receptors (By similarity).			R -> RS (in Ref. 3; AAC50950).	B cell differentiation|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of dendritic cell cytokine production|negative regulation of FasL biosynthetic process|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of T-helper 1 cell differentiation|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9|T cell homeostasis	cytoskeleton|cytosol|endomembrane system|membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147						ACTTCCTACCGAATCCTGTAC	0.592		2	Mis		"acute megakaryocytic leukemia, ETP ALL"								20	47					0	0	1	0	0	A	17954587	G	A	17954587	5	1	454	1	0	0	0	0	0	0	1	0	7983	1072	37	1	3155	1	JAK3	19	17954587	Splice_Site	SNP	G	TCGA-S9-A7R8-01A-11D-A34J-08	11276619	17954587	41174396	38	35921											
FFAR2	2867	broad.mit.edu	37	19	35941457	35941457	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chr19:35941457C>T	ENST00000599180.2	+	2	921	c.841C>T	c.(841-843)Cgc>Tgc	p.R281C	FFAR2_ENST00000246549.2_Missense_Mutation_p.R281C|FFAR2_ENST00000601590.1_Intron			O15552	FFAR2_HUMAN	free fatty acid receptor 2							integral to plasma membrane	G-protein coupled receptor activity|lipid binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(6)|skin(1)|urinary_tract(1)	22	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			TTCAGTGGTGCGCAGGGCATT	0.577													214	83					0	0	1	0	0	T	35941457	C	T	35941457	3	4	454	1	0	0	0	0	1	0	0	0	5861	768	27	1	843	1	FFAR2	19	35941457	Missense_Mutation	SNP	C	TCGA-S9-A7R8-01A-11D-A34J-08	17986870	35941457	23187526	39	35922											
ZC3H4	23211	broad.mit.edu	37	19	47569810	47569810	+	Frame_Shift_Del	DEL	C	C	-			TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chr19:47569810delC	ENST00000253048.5	-	15	3752	c.3715delG	c.(3715-3717)gagfs	p.E1239fs	ZC3H4_ENST00000594019.1_5'UTR	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	1239							nucleic acid binding|zinc ion binding			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		GGGGCACCCTCGGGGGGTGGG	0.701													2	4	---	---	---	---						-	47569810	C	-	47569810	7	5	454	1	0	1	0	1	0	0	0	0	17629	893	31	0	200	0	ZC3H4	19	47569810	Frame_Shift_Del	DEL	C	TCGA-S9-A7R8-01A-11D-A34J-08	11628353	47569810	11559173	40	35923											
GLTSCR2	29997	broad.mit.edu	37	19	48248981	48248981	+	Silent	SNP	G	G	A			TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chr19:48248981G>A	ENST00000246802.5	+	1	203	c.165G>A	c.(163-165)ccG>ccA	p.P55P	GLTSCR2_ENST00000598681.1_3'UTR	NM_015710.4	NP_056525.2	Q9NZM5	GSCR2_HUMAN	glioma tumor suppressor candidate region gene 2	55						nucleolus				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	15		all_cancers(25;1.47e-06)|all_lung(116;6.89e-05)|all_epithelial(76;0.000108)|Lung NSC(112;0.000117)|all_neural(266;0.0332)|Ovarian(192;0.086)		all cancers(93;0.000301)|OV - Ovarian serous cystadenocarcinoma(262;0.00031)|Epithelial(262;0.0149)|GBM - Glioblastoma multiforme(486;0.0278)		CTCAGGAGCCGCTGGGGCTGG	0.697													3	11					0	0	1	0	0	A	48248981	G	A	48248981	2	1	454	1	0	0	0	0	0	0	0	1	6517	1074	38	1		1	GLTSCR2	19	48248981	Silent	SNP	G	TCGA-S9-A7R8-01A-11D-A34J-08	679171	48248981	10880002	41	35924											
NLRP5	126206	broad.mit.edu	37	19	56552352	56552352	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chr19:56552352C>T	ENST00000390649.3	+	11	2851	c.2851C>T	c.(2851-2853)Cgg>Tgg	p.R951W		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	951						mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		CGTCAGCAACCGGAGCTTGAC	0.562													46	17					0	0	1	0	0	T	56552352	C	T	56552352	3	4	454	1	0	0	0	0	1	0	0	0	10527	643	23	1	2893	1	NLRP5	19	56552352	Missense_Mutation	SNP	C	TCGA-S9-A7R8-01A-11D-A34J-08	8303371	56552352	2576631	42	35925											
CHGB	1114	broad.mit.edu	37	20	5905691	5905691	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chr20:5905691G>A	ENST00000378961.4	+	5	2234	c.2030G>A	c.(2029-2031)gGc>gAc	p.G677D		NM_001819.2	NP_001810.2	P05060	SCG1_HUMAN	chromogranin B (secretogranin 1)	677						extracellular region	hormone activity			breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						AGCCAAAGGGGCTGACTGTCA	0.438													22	22					0	0	1	0	0	A	5905691	G	A	5905691	3	1	454	1	0	0	0	0	1	0	0	0	3361	1203	42	2	2048	2	CHGB	20	5905691	Missense_Mutation	SNP	G	TCGA-S9-A7R8-01A-11D-A34J-08		5905691	57119829	43	35926											
RBL1	5933	broad.mit.edu	37	20	35672586	35672586	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chr20:35672586A>G	ENST00000373664.3	-	13	1739	c.1673T>C	c.(1672-1674)aTt>aCt	p.I558T	RBL1_ENST00000344359.3_Missense_Mutation_p.I558T	NM_002895.2	NP_002886.2	P28749	RBL1_HUMAN	retinoblastoma-like 1 (p107)	558	Domain A.|Pocket; binds T and E1A.				cell cycle|chromatin modification|interspecies interaction between organisms|regulation of cell cycle|regulation of lipid kinase activity|transcription, DNA-dependent		transcription factor binding			NS(1)|breast(1)|endometrium(7)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	42		Myeloproliferative disorder(115;0.00878)				CTGTTCTTCAATGCTGTTTAG	0.478													33	67					0	0	1	0	0	G	35672586	A	G	35672586	3	3	454	1	0	0	0	0	1	0	0	0	13161	101	4	3	1582	3	RBL1	20	35672586	Missense_Mutation	SNP	A	TCGA-S9-A7R8-01A-11D-A34J-08	29766895	35672586	27352934	44	35927											
BAGE2	85319	broad.mit.edu	37	21	11038748	11038748	+	RNA	SNP	C	C	T	rs75164355	by1000genomes	TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chr21:11038748C>T	ENST00000470054.1	-	0	1455									B melanoma antigen family, member 2															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)		CGAGGTCTACCAGGAGAAAAT	0.378													8	245					0	0	1	0	0	T	11038748	C	T	11038748	1	4	454	0	1	0	0	0	0	0	0	0	1290	609	21	2		2	BAGE2	21	11038748	RNA	SNP	C	TCGA-S9-A7R8-01A-11D-A34J-08		11038748	37091147	45	35928											
CSF2RA	1438	broad.mit.edu	37	X	1407750	1407750	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chrX:1407750G>A	ENST00000381524.3	+	6	628	c.442G>A	c.(442-444)Gtc>Atc	p.V148I	CSF2RA_ENST00000381529.3_Missense_Mutation_p.V148I|CSF2RA_ENST00000417535.2_Missense_Mutation_p.V148I|CSF2RA_ENST00000432318.2_Missense_Mutation_p.V148I|CSF2RA_ENST00000381509.3_Missense_Mutation_p.V148I|CSF2RA_ENST00000381500.1_Missense_Mutation_p.V148I|CSF2RA_ENST00000361536.3_Missense_Mutation_p.V148I|CSF2RA_ENST00000355805.2_Missense_Mutation_p.V148I|CSF2RA_ENST00000501036.2_Missense_Mutation_p.V15I|CSF2RA_ENST00000494969.2_Intron|CSF2RA_ENST00000355432.3_Missense_Mutation_p.V148I			P15509	CSF2R_HUMAN	colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)	148						extracellular region|integral to plasma membrane	cytokine receptor activity			central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	CCCCCGTGACGTCCAGTATTT	0.468													68	70					0	0	1	0	0	A	1407750	G	A	1407750	3	1	454	1	0	0	0	0	1	0	0	0	3959	1145	40	1	456	1	CSF2RA	23	1407750	Missense_Mutation	SNP	G	TCGA-S9-A7R8-01A-11D-A34J-08		1407750	153862810	46	35929											
RBM10	8241	broad.mit.edu	37	X	47044862	47044862	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chrX:47044862G>A	ENST00000377604.3	+	20	2930	c.2188G>A	c.(2188-2190)Gca>Aca	p.A730T	RBM10_ENST00000329236.7_Missense_Mutation_p.A652T|RBM10_ENST00000345781.6_Missense_Mutation_p.A653T	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN	RNA binding motif protein 10	730					mRNA processing|RNA splicing	chromatin remodeling complex	nucleotide binding|RNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						AGGACTGGTGGCAGCCTACAG	0.682													4	3					0	0	1	0	0	A	47044862	G	A	47044862	3	1	454	1	0	0	0	0	1	0	0	0	13163	1203	42	2	2262	2	RBM10	23	47044862	Missense_Mutation	SNP	G	TCGA-S9-A7R8-01A-11D-A34J-08	45637112	47044862	108225698	47	35930											
ERAS	3266	broad.mit.edu	37	X	48688182	48688182	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chrX:48688182G>A	ENST00000338270.1	+	1	900	c.649G>A	c.(649-651)Gag>Aag	p.E217K		NM_181532.2	NP_853510.1	Q7Z444	RASE_HUMAN	ES cell expressed Ras	217					small GTPase mediated signal transduction	intracellular|plasma membrane	GTP binding|GTPase activity			endometrium(2)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1)	14						GTCCTGTAGGGAGAAGACCCG	0.607													9	12					0	0	1	0	0	A	48688182	G	A	48688182	3	1	454	1	0	0	0	0	1	0	0	0	5233	1175	41	2	651	2	ERAS	23	48688182	Missense_Mutation	SNP	G	TCGA-S9-A7R8-01A-11D-A34J-08	1643320	48688182	106582378	48	35931											
FOXO4	4303	broad.mit.edu	37	X	70321220	70321220	+	Silent	SNP	C	C	T			TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chrX:70321220C>T	ENST00000374259.3	+	2	1472	c.1140C>T	c.(1138-1140)gaC>gaT	p.D380D	FOXO4_ENST00000341558.3_Silent_p.D325D	NM_001170931.1|NM_005938.3	NP_001164402.1|NP_005929.2	P98177	FOXO4_HUMAN	forkhead box O4	380					cell cycle arrest|cell differentiation|embryo development|G1 phase of mitotic cell cycle|insulin receptor signaling pathway|mitotic cell cycle G2/M transition DNA damage checkpoint|muscle organ development|negative regulation of angiogenesis|negative regulation of cell proliferation|negative regulation of smooth muscle cell differentiation|nerve growth factor receptor signaling pathway|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|tissue development	cytosol|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)	18	Renal(35;0.156)					CCCCTGCTGACGTCCTCATGA	0.652													6	42					0	0	1	0	0	T	70321220	C	T	70321220	2	4	454	1	0	0	0	0	0	0	0	1	6059	535	19	1		1	FOXO4	23	70321220	Silent	SNP	C	TCGA-S9-A7R8-01A-11D-A34J-08	21633038	70321220	84949340	49	35932											
ATRX	546	broad.mit.edu	37	X	76938331	76938331	+	Frame_Shift_Del	DEL	T	T	-			TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chrX:76938331delT	ENST00000373344.5	-	9	2631	c.2417delA	c.(2416-2418)aagfs	p.K807fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.K769fs	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	807					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)	TTGTCGTTTCTTTTTAGAAAT	0.338			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						179	185	---	---	---	---						-	76938331	T	-	76938331	7	5	454	1	0	1	0	1	0	0	0	0	1206	1609	56	0	5169	0	ATRX	23	76938331	Frame_Shift_Del	DEL	T	TCGA-S9-A7R8-01A-11D-A34J-08	6617111	76938331	78332229	50	35933			1	46		2	2	14	N	T	2.183668e-05
ATRX	546	broad.mit.edu	37	X	76938344	76938344	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chrX:76938344T>C	ENST00000373344.5	-	9	2618	c.2404A>G	c.(2404-2406)Ata>Gta	p.I802V	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.I764V	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	802					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)	TTAGAAATTATAGAGCTCTTA	0.368			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						188	186					0	0	1	0	0	C	76938344	T	C	76938344	3	2	454	1	0	0	0	0	1	0	0	0	1206	1406	49	3	5182	3	ATRX	23	76938344	Missense_Mutation	SNP	T	TCGA-S9-A7R8-01A-11D-A34J-08	13	76938344	78332216	51	35934			1	46		2	2	14	N	T	2.183668e-05
DCAF12L2	340578	broad.mit.edu	37	X	125298550	125298550	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chrX:125298550C>T	ENST00000538699.1	-	2	1438	c.1358G>A	c.(1357-1359)gGc>gAc	p.G453D	DCAF12L2_ENST00000360028.2_Missense_Mutation_p.G453D	NM_001013628.2	NP_001013650.1	Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	453										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						CCCATGGAGGCCTGAAGGGAG	0.547													57	71					0	0	1	0	0	T	125298550	C	T	125298550	3	4	454	1	0	0	0	0	1	0	0	0	4289	739	26	2	37	2	DCAF12L2	23	125298550	Missense_Mutation	SNP	C	TCGA-S9-A7R8-01A-11D-A34J-08	48360206	125298550	29972010	52	35935											
HMCN1	83872	broad.mit.edu	37	1	186105941	186105941	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr1:186105941G>A	ENST00000271588.4	+	87	13683	c.13454G>A	c.(13453-13455)cGg>cAg	p.R4485Q	HMCN1_ENST00000367492.2_Missense_Mutation_p.R4485Q	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	4485	Ig-like C2-type 44.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TGGGATGACCGGGTTAACGTG	0.433													14	57					0	0	1	0	0	A	186105941	G	A	186105941	3	1	455	1	0	0	0	0	1	0	0	0	7261	1116	39	1	13800	1	HMCN1	1	186105941	Missense_Mutation	SNP	G	TCGA-S9-A89V-01A-11D-A36O-08		186105941	63144680	1	35936											
ATP6V1G3	127124	broad.mit.edu	37	1	198492549	198492549	+	Missense_Mutation	SNP	A	A	G	rs140981596		TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr1:198492549A>G	ENST00000367381.1	-	5	452	c.347T>C	c.(346-348)aTc>aCc	p.I116T	ATP6V1G3_ENST00000489986.1_Missense_Mutation_p.I116T|ATP6V1G3_ENST00000281087.2_Missense_Mutation_p.I110T|ATP6V1G3_ENST00000367382.1_Missense_Mutation_p.I110T|ATP6V1G3_ENST00000309309.7_3'UTR			Q96LB4	VATG3_HUMAN	ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G3	110					cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|plasma membrane|vacuolar proton-transporting V-type ATPase complex	ATPase binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|prostate(1)	7						GTTCACATGGATTTCTGGTTT	0.393													6	31					0	0	1	0	0	G	198492549	A	G	198492549	3	3	455	1	0	0	0	0	1	0	0	0	1186	333	12	3	31	3	ATP6V1G3	1	198492549	Missense_Mutation	SNP	A	TCGA-S9-A89V-01A-11D-A36O-08	12386608	198492549	50758072	2	35937											
PTPRC	5788	broad.mit.edu	37	1	198719744	198719744	+	Missense_Mutation	SNP	C	C	G			TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr1:198719744C>G	ENST00000367376.2	+	29	3361	c.3190C>G	c.(3190-3192)Cat>Gat	p.H1064D	PTPRC_ENST00000594404.1_Missense_Mutation_p.H903D|PTPRC_ENST00000348564.6_Missense_Mutation_p.H905D|PTPRC_ENST00000442510.2_Missense_Mutation_p.H1066D|PTPRC_ENST00000352140.3_Missense_Mutation_p.H1016D	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	1064	Tyrosine-protein phosphatase 2.				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						AGAACTGAAACATGGAGACCA	0.413													4	125					0	0	1	0	0	G	198719744	C	G	198719744	3	3	455	1	0	0	0	0	1	0	0	0	12849	478	17	5	3311	5	PTPRC	1	198719744	Missense_Mutation	SNP	C	TCGA-S9-A89V-01A-11D-A36O-08	227195	198719744	50530877	3	35938											
JMJD4	65094	broad.mit.edu	37	1	227920211	227920211	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr1:227920211A>G	ENST00000366758.3	-	6	1273	c.1274T>C	c.(1273-1275)cTg>cCg	p.L425P	SNAP47_ENST00000480897.1_3'UTR|JMJD4_ENST00000438896.2_Missense_Mutation_p.L409P|JMJD4_ENST00000485807.1_5'UTR|SNAP47_ENST00000366760.1_Intron	NM_023007.2	NP_075383.2	Q9H9V9	JMJD4_HUMAN	jumonji domain containing 4	425										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)	9		Prostate(94;0.0885)				CAAGGAGGCCAGCACCTCTGT	0.612													10	48					0	0	1	0	0	G	227920211	A	G	227920211	3	3	455	1	0	0	0	0	1	0	0	0	7995	188	7	3	121	3	JMJD4	1	227920211	Missense_Mutation	SNP	A	TCGA-S9-A89V-01A-11D-A36O-08	29200467	227920211	21330410	4	35939											
DNMT3A	1788	broad.mit.edu	37	2	25464457	25464457	+	Missense_Mutation	SNP	C	C	A			TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr2:25464457C>A	ENST00000264709.3	-	17	2393	c.2056G>T	c.(2056-2058)Gac>Tac	p.D686Y	DNMT3A_ENST00000380746.4_Missense_Mutation_p.D497Y|DNMT3A_ENST00000474887.1_5'UTR|DNMT3A_ENST00000402667.1_Missense_Mutation_p.D463Y|DNMT3A_ENST00000321117.5_Missense_Mutation_p.D686Y	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	686					regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding	p.D686G(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTGCGGACGTCCCCGACGTAC	0.627			"Mis, F, N, S"		AML								11	22					0.000673444	0.000707116	1	1	0	A	25464457	C	A	25464457	3	1	455	1	0	0	0	0	1	0	0	0	4703	855	30	5	710	5	DNMT3A	2	25464457	Missense_Mutation	SNP	C	TCGA-S9-A89V-01A-11D-A36O-08		25464457	217734916	5	35940											
PKP4	8502	broad.mit.edu	37	2	159459581	159459581	+	Splice_Site	SNP	G	G	A			TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr2:159459581G>A	ENST00000389757.3	+	4	370		c.e4-1		PKP4_ENST00000389759.3_Splice_Site	NM_001005476.1	NP_001005476.1	Q99569	PKP4_HUMAN	plakophilin 4						cell adhesion	desmosome	protein binding			breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	61						TTTTTCTTTAGCTCAACTGAG	0.259										HNSCC(62;0.18)			5	70					0	0	1	0	0	A	159459581	G	A	159459581	5	1	455	1	0	0	0	0	0	0	1	0	12035	985	34	2	255	2	PKP4	2	159459581	Splice_Site	SNP	G	TCGA-S9-A89V-01A-11D-A36O-08	133995124	159459581	83739792	6	35941											
PLA2R1	22925	broad.mit.edu	37	2	160901539	160901539	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr2:160901539C>T	ENST00000283243.7	-	2	445	c.239G>A	c.(238-240)gGc>gAc	p.G80D	PLA2R1_ENST00000392771.1_Missense_Mutation_p.G80D	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1, 180kDa	80	Ricin B-type lectin.				endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						GTTAAAGAGGCCATGGTTTGA	0.478													15	38					0	0	1	0	0	T	160901539	C	T	160901539	3	4	455	1	0	0	0	0	1	0	0	0	12058	739	26	2	4276	2	PLA2R1	2	160901539	Missense_Mutation	SNP	C	TCGA-S9-A89V-01A-11D-A36O-08	1441958	160901539	82297834	7	35942											
LRP2	4036	broad.mit.edu	37	2	170093622	170093622	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr2:170093622G>A	ENST00000263816.3	-	28	4967	c.4682C>T	c.(4681-4683)cCc>cTc	p.P1561L		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	1561					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	CTTCATTCTGGGATCTAATGC	0.368													9	69					0	0	1	0	0	A	170093622	G	A	170093622	3	1	455	1	0	0	0	0	1	0	0	0	9001	1232	43	2	9493	2	LRP2	2	170093622	Missense_Mutation	SNP	G	TCGA-S9-A89V-01A-11D-A36O-08	9192083	170093622	73105751	8	35943											
CXCR2	3579	broad.mit.edu	37	2	218999635	218999635	+	Silent	SNP	C	C	T			TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr2:218999635C>T	ENST00000318507.2	+	3	538	c.111C>T	c.(109-111)gcC>gcT	p.A37A		NM_001557.3	NP_001548.1	P25025	CXCR2_HUMAN	chemokine (C-X-C motif) receptor 2	37					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular defense response|dendritic cell chemotaxis|inflammatory response|neutrophil activation|neutrophil chemotaxis|positive regulation of cell proliferation	cell surface|integral to plasma membrane|mast cell granule	interleukin-8 receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(11)|skin(1)|stomach(1)	22						TAGATGCCGCCCCATGTGAAC	0.458													23	89					0	0	1	0	0	T	218999635	C	T	218999635	2	4	455	1	0	0	0	0	0	0	0	1	4114	610	22	2		2	CXCR2	2	218999635	Silent	SNP	C	TCGA-S9-A89V-01A-11D-A36O-08	48906013	218999635	24199738	9	35944											
TMPRSS11E	28983	broad.mit.edu	37	4	69344613	69344613	+	Silent	SNP	C	C	T	rs144869043	byFrequency	TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr4:69344613C>T	ENST00000305363.4	+	9	1078	c.1014C>T	c.(1012-1014)gaC>gaT	p.D338D		NM_014058.3	NP_054777.2	Q9UL52	TM11E_HUMAN	transmembrane protease, serine 11E	338	Peptidase S1.				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			endometrium(1)|lung(19)|pancreas(1)|skin(3)	24						CTCTCATAGACGCTACAACTT	0.363													31	204					0	0	1	0	0	T	69344613	C	T	69344613	2	4	455	1	0	0	0	0	0	0	0	1	16302	535	19	1		1	TMPRSS11E	4	69344613	Silent	SNP	C	TCGA-S9-A89V-01A-11D-A36O-08		69344613	121809663	10	35945											
PKD2L2	27039	broad.mit.edu	37	5	137259133	137259133	+	Missense_Mutation	SNP	G	G	T			TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr5:137259133G>T	ENST00000508638.1	+	8	1226	c.1171G>T	c.(1171-1173)Gat>Tat	p.D391Y	PKD2L2_ENST00000290431.5_Missense_Mutation_p.D492Y|PKD2L2_ENST00000350250.4_Missense_Mutation_p.D458Y|PKD2L2_ENST00000508883.1_Missense_Mutation_p.D492Y|PKD2L2_ENST00000502810.1_Missense_Mutation_p.D470Y	NM_001258449.1	NP_001245378.1	Q9NZM6	PK2L2_HUMAN	polycystic kidney disease 2-like 2	391						integral to membrane	calcium ion binding|ion channel activity			breast(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	28			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			AATTATTAATGATACCTATTC	0.274													9	88					0.000978159	0.00101023	1	1	0	T	137259133	G	T	137259133	3	4	455	1	0	0	0	0	1	0	0	0	12016	1290	45	5	1512	5	PKD2L2	5	137259133	Missense_Mutation	SNP	G	TCGA-S9-A89V-01A-11D-A36O-08		137259133	43656127	11	35946											
AFAP1L1	134265	broad.mit.edu	37	5	148699992	148699992	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr5:148699992G>A	ENST00000296721.4	+	14	1762	c.1664G>A	c.(1663-1665)cGa>cAa	p.R555Q	AFAP1L1_ENST00000515000.1_Missense_Mutation_p.R555Q	NM_001146337.1|NM_152406.2	NP_001139809.1|NP_689619.1	Q8TED9	AF1L1_HUMAN	actin filament associated protein 1-like 1	555							protein binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTGAGCCCCGAGTCTATGAT	0.458													5	50					0	0	1	0	0	A	148699992	G	A	148699992	3	1	455	1	0	0	0	0	1	0	0	0	353	1058	37	1	1718	1	AFAP1L1	5	148699992	Missense_Mutation	SNP	G	TCGA-S9-A89V-01A-11D-A36O-08	11440859	148699992	32215268	12	35947											
HMMR	3161	broad.mit.edu	37	5	162909742	162909742	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr5:162909742G>A	ENST00000393915.4	+	13	1623	c.1480G>A	c.(1480-1482)Gat>Aat	p.D494N	HMMR_ENST00000353866.3_Missense_Mutation_p.D478N|HMMR_ENST00000358715.3_Missense_Mutation_p.D493N|HMMR_ENST00000432118.2_Missense_Mutation_p.D407N	NM_001142556.1|NM_012484.2	NP_001136028.1|NP_036616.2	O75330	HMMR_HUMAN	hyaluronan-mediated motility receptor (RHAMM)	493						cell surface|cytoplasm	hyaluronic acid binding			cervix(1)|kidney(3)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	23	Renal(175;0.000281)	Medulloblastoma(196;0.00853)|all_neural(177;0.0408)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0296)|OV - Ovarian serous cystadenocarcinoma(192;0.0423)|Epithelial(171;0.0848)		AAATGCAGAGGATGTTCAGCA	0.378													18	46					0	0	1	0	0	A	162909742	G	A	162909742	3	1	455	1	0	0	0	0	1	0	0	0	7283	1174	41	2	1530	2	HMMR	5	162909742	Missense_Mutation	SNP	G	TCGA-S9-A89V-01A-11D-A36O-08	14209750	162909742	18005518	13	35948											
FLT4	2324	broad.mit.edu	37	5	180038363	180038363	+	Silent	SNP	C	C	T			TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr5:180038363C>T	ENST00000261937.6	-	27	3732	c.3654G>A	c.(3652-3654)ccG>ccA	p.P1218P	FLT4_ENST00000502649.1_Silent_p.P1218P|FLT4_ENST00000393347.3_Silent_p.P1218P	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	1218					positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	GCAGGCTTGGCGGGCTGTCCT	0.637													15	97					0	0	1	0	0	T	180038363	C	T	180038363	2	4	455	1	0	0	0	0	0	0	0	1	5977	755	27	1		1	FLT4	5	180038363	Silent	SNP	C	TCGA-S9-A89V-01A-11D-A36O-08	17128621	180038363	876897	14	35949											
SYCP2L	221711	broad.mit.edu	37	6	10956459	10956459	+	Missense_Mutation	SNP	G	G	T			TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr6:10956459G>T	ENST00000283141.6	+	25	2443	c.2147G>T	c.(2146-2148)cGg>cTg	p.R716L		NM_001040274.2	NP_001035364.2	Q5T4T6	SYC2L_HUMAN	synaptonemal complex protein 2-like	716						nucleus				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	36	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	Epithelial(50;0.239)			ACTAAAAAACGGAAAAGAAAA	0.388													4	15					0.00909568	0.00924238	1	1	0	T	10956459	G	T	10956459	3	4	455	1	0	0	0	0	1	0	0	0	15490	1116	39	5	2245	5	SYCP2L	6	10956459	Missense_Mutation	SNP	G	TCGA-S9-A89V-01A-11D-A36O-08		10956459	160158608	15	35950											
ARMC2	84071	broad.mit.edu	37	6	109286254	109286254	+	Nonsense_Mutation	SNP	G	G	A			TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr6:109286254G>A	ENST00000392644.4	+	17	2525	c.2357G>A	c.(2356-2358)tGg>tAg	p.W786*	ARMC2_ENST00000368972.3_Nonsense_Mutation_p.W621*|ARMC2_ENST00000481850.1_3'UTR	NM_032131.4	NP_115507.4	Q8NEN0	ARMC2_HUMAN	armadillo repeat containing 2	786							binding			endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)	24		all_cancers(87;1.14e-07)|Acute lymphoblastic leukemia(125;2.3e-10)|all_hematologic(75;3.3e-08)|all_epithelial(87;0.000111)|Colorectal(196;0.03)|all_lung(197;0.11)		Epithelial(106;0.000197)|BRCA - Breast invasive adenocarcinoma(108;0.000236)|all cancers(137;0.000279)|OV - Ovarian serous cystadenocarcinoma(136;0.00434)		AAAACTTTATGGAACTTCAGT	0.373													16	166					0	0	1	0	0	A	109286254	G	A	109286254	4	1	455	1	0	0	0	0	0	1	0	0	950	1357	47	2	2419	2	ARMC2	6	109286254	Nonsense_Mutation	SNP	G	TCGA-S9-A89V-01A-11D-A36O-08	98329795	109286254	61828813	16	35951											
AKAP7	9465	broad.mit.edu	37	6	131574228	131574228	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr6:131574228T>C	ENST00000474850.2	+	2	239	c.101T>C	c.(100-102)aTa>aCa	p.I34T	AKAP7_ENST00000342266.4_Intron|AKAP7_ENST00000537868.1_Intron|AKAP7_ENST00000431975.2_Intron|AKAP7_ENST00000263050.3_Intron|AKAP7_ENST00000541650.1_Intron|AKAP7_ENST00000368123.4_Intron	NM_138633.2	NP_619539.1	O43687	AKA7A_HUMAN	A kinase (PRKA) anchor protein 7	34	Required for apical membrane localization.				intracellular signal transduction|ion transport	apical plasma membrane|intracellular|lateral plasma membrane	protein kinase A binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|stomach(1)	13	Breast(56;0.152)			GBM - Glioblastoma multiforme(226;0.0184)|OV - Ovarian serous cystadenocarcinoma(155;0.0345)		AGCAAGGATATACCCAGTTGG	0.443													14	28					0	0	1	0	0	C	131574228	T	C	131574228	3	2	455	1	0	0	0	0	1	0	0	0	453	1406	49	3	915	3	AKAP7	6	131574228	Missense_Mutation	SNP	T	TCGA-S9-A89V-01A-11D-A36O-08	22287974	131574228	39540839	17	35952											
ULBP3	79465	broad.mit.edu	37	6	150387184	150387184	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr6:150387184C>T	ENST00000367339.2	-	2	231	c.203G>A	c.(202-204)gGc>gAc	p.G68D	ULBP3_ENST00000438272.2_Missense_Mutation_p.G68D			Q9BZM4	N2DL3_HUMAN	UL16 binding protein 3		MHC class I alpha-1 like.				antigen processing and presentation|immune response|natural killer cell activation	anchored to membrane|MHC class I protein complex	MHC class I receptor activity			central_nervous_system(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	9		Ovarian(120;0.12)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.45e-12)		CTTGTCACTGCCACAGTCATA	0.498													24	93					0	0	1	0	0	T	150387184	C	T	150387184	3	4	455	1	0	0	0	0	1	0	0	0	17034	739	26	2	542	2	ULBP3	6	150387184	Missense_Mutation	SNP	C	TCGA-S9-A89V-01A-11D-A36O-08	18812956	150387184	20727883	18	35953											
TNRC18	84629	broad.mit.edu	37	7	5360010	5360010	+	Frame_Shift_Del	DEL	G	G	-			TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr7:5360010delG	ENST00000399537.4	-	24	7032	c.6684delC	c.(6682-6684)accfs	p.T2228fs	TNRC18_ENST00000430969.1_Frame_Shift_Del_p.T2228fs			O15417	TNC18_HUMAN	trinucleotide repeat containing 18	2228							DNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		CTGCAATCCTGGTCCCTTGTG	0.597													2	4	---	---	---	---						-	5360010	G	-	5360010	7	5	455	1	0	1	0	1	0	0	0	0	16399	1335	47	0	2250	0	TNRC18	7	5360010	Frame_Shift_Del	DEL	G	TCGA-S9-A89V-01A-11D-A36O-08		5360010	153778653	19	35954											
RAB19	401409	broad.mit.edu	37	7	140111797	140111797	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr7:140111797C>T	ENST00000275874.5	+	4	664	c.466C>T	c.(466-468)Cct>Tct	p.P156S	RAB19_ENST00000537763.1_Missense_Mutation_p.P109S|RAB19_ENST00000356407.3_Missense_Mutation_p.P109S			A4D1S5	RAB19_HUMAN	RAB19, member RAS oncogene family	109					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding			breast(3)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	9	Melanoma(164;0.0142)					CGAGTCCATCCCTCACTGGAT	0.498													22	130					0	0	1	0	0	T	140111797	C	T	140111797	3	4	455	1	0	0	0	0	1	0	0	0	12956	623	22	2	331	2	RAB19	7	140111797	Missense_Mutation	SNP	C	TCGA-S9-A89V-01A-11D-A36O-08	134751787	140111797	19026866	20	35955											
KCNQ3	3786	broad.mit.edu	37	8	133142022	133142022	+	Silent	SNP	C	C	T			TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr8:133142022C>T	ENST00000388996.4	-	15	2526	c.2106G>A	c.(2104-2106)gtG>gtA	p.V702V	KCNQ3_ENST00000521134.1_Silent_p.V582V|KCNQ3_ENST00000519445.1_Silent_p.V690V	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	702					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			TGTCAATGGTCACCTGGTGGA	0.527													13	45					0	0	1	0	0	T	133142022	C	T	133142022	2	4	455	1	0	0	0	0	0	0	0	1	8128	813	29	2		2	KCNQ3	8	133142022	Silent	SNP	C	TCGA-S9-A89V-01A-11D-A36O-08		133142022	13222000	21	35956											
AGAP7	653268	broad.mit.edu	37	10	51464823	51464823	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr10:51464823G>A	ENST00000374095.5	-	7	1758	c.1633C>T	c.(1633-1635)Cgt>Tgt	p.R545C		NM_001077685.1	NP_001071153.1	Q5VUJ5	AGAP7_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 7	545	Arf-GAP.				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	11						TATTTGGAACGGATCCACCGT	0.582													4	111					0	0	1	0	0	A	51464823	G	A	51464823	3	1	455	1	0	0	0	0	1	0	0	0	370	1116	39	1	362	1	AGAP7	10	51464823	Missense_Mutation	SNP	G	TCGA-S9-A89V-01A-11D-A36O-08		51464823	84069924	22	35957											
SLC18A2	6571	broad.mit.edu	37	10	119017386	119017386	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr10:119017386C>T	ENST00000298472.5	+	10	1117	c.974C>T	c.(973-975)tCc>tTc	p.S325F	SLC18A2_ENST00000497497.1_3'UTR	NM_003054.4	NP_003045.2	Q05940	VMAT2_HUMAN	solute carrier family 18 (vesicular monoamine transporter), member 2	325					neurotransmitter secretion	clathrin sculpted monoamine transport vesicle membrane|integral to plasma membrane|membrane fraction	monoamine transmembrane transporter activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)	29		Colorectal(252;0.19)		all cancers(201;0.029)	Alseroxylon(DB00386)|Reserpine(DB00206)|Tetrabenazine(DB04844)	ACCATGTGTTCCCGAAAGTGG	0.572													10	31					0	0	1	0	0	T	119017386	C	T	119017386	3	4	455	1	0	0	0	0	1	0	0	0	14481	855	30	2	1008	2	SLC18A2	10	119017386	Missense_Mutation	SNP	C	TCGA-S9-A89V-01A-11D-A36O-08	67552563	119017386	16517361	23	35958											
SHANK2	22941	broad.mit.edu	37	11	70331677	70331677	+	Missense_Mutation	SNP	C	C	A			TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr11:70331677C>A	ENST00000338508.4	-	32	4723	c.4724G>T	c.(4723-4725)aGc>aTc	p.S1575I	SHANK2_ENST00000449833.2_Missense_Mutation_p.S979I|SHANK2_ENST00000423696.2_Missense_Mutation_p.S1195I|SHANK2_ENST00000409161.1_Missense_Mutation_p.S978I			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	1195					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			gATAACAAAGCTATCTACATC	0.572													5	127					1	1	1	1	0	A	70331677	C	A	70331677	3	1	455	1	0	0	0	0	1	0	0	0	14320	797	28	4	836	4	SHANK2	11	70331677	Missense_Mutation	SNP	C	TCGA-S9-A89V-01A-11D-A36O-08		70331677	64674839	24	35959											
PGR	5241	broad.mit.edu	37	11	100912815	100912815	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr11:100912815C>T	ENST00000325455.5	-	7	3960	c.2507G>A	c.(2506-2508)cGa>cAa	p.R836Q	PGR_ENST00000534013.1_Missense_Mutation_p.R242Q|PGR_ENST00000263463.5_Missense_Mutation_p.R734Q	NM_000926.4|NM_001202474.1|NM_001271162.1	NP_000917.3|NP_001189403.1|NP_001258091.1	P06401	PRGR_HUMAN	progesterone receptor	836	Steroid-binding.				cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	p.R836Q(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)	GGTTTGACTTCGTAGCCCTTC	0.383													3	50					0	0	1	0	0	T	100912815	C	T	100912815	3	4	455	1	0	0	0	0	1	0	0	0	11853	884	31	1	302	1	PGR	11	100912815	Missense_Mutation	SNP	C	TCGA-S9-A89V-01A-11D-A36O-08	30581138	100912815	34093701	25	35960											
OR10G8	219869	broad.mit.edu	37	11	123901018	123901018	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr11:123901018C>T	ENST00000431524.1	+	1	722	c.689C>T	c.(688-690)tCa>tTa	p.S230L		NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G, member 8	230					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		ATCCGCACCTCAGAGGGGAAG	0.537													12	83					0	0	1	0	0	T	123901018	C	T	123901018	3	4	455	1	0	0	0	0	1	0	0	0	10951	838	29	2	691	2	OR10G8	11	123901018	Missense_Mutation	SNP	C	TCGA-S9-A89V-01A-11D-A36O-08	22988203	123901018	11105498	26	35961											
ARID2	196528	broad.mit.edu	37	12	46245237	46245238	+	Frame_Shift_Ins	INS	-	-	T			TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr12:46245237_46245238insT	ENST00000334344.6	+	15	3503_3504	c.3331_3332insT	c.(3331-3333)gtgfs	p.V1111fs	ARID2_ENST00000422737.1_Frame_Shift_Ins_p.V962fs|ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000444670.1_Frame_Shift_Ins_p.V721fs	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	1111	Gln-rich.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		AGGTTTTGGAGTGCAGGGGCAA	0.545			"N, S, F"		hepatocellular carcinoma								16	49	---	---	---	---						T	46245238	-	T	46245237	7	5	455	1	0	1	1	0	0	0	0	0	912	1029	36	0	3389	0	ARID2	12	46245237	Frame_Shift_Ins	INS	-	TCGA-S9-A89V-01A-11D-A36O-08		46245237	87606658	27	35962											
SOHLH2	54937	broad.mit.edu	37	13	36748670	36748670	+	Missense_Mutation	SNP	C	C	G			TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr13:36748670C>G	ENST00000379881.3	-	8	912	c.824G>C	c.(823-825)tGt>tCt	p.C275S	CCDC169-SOHLH2_ENST00000511166.1_Missense_Mutation_p.C352S|SOHLH2_ENST00000554962.1_Missense_Mutation_p.C352S	NM_017826.2	NP_060296.2			spermatogenesis and oogenesis specific basic helix-loop-helix 2											autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;4.63e-08)|Epithelial(112;2.67e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00272)|BRCA - Breast invasive adenocarcinoma(63;0.00685)|GBM - Glioblastoma multiforme(144;0.0273)		TTGTTTCTTACAAAACCTCAT	0.383													11	61					0	0	1	0	0	G	36748670	C	G	36748670	3	3	455	1	0	0	0	0	1	0	0	0	14978	478	17	5	469	5	SOHLH2	13	36748670	Missense_Mutation	SNP	C	TCGA-S9-A89V-01A-11D-A36O-08		36748670	78421208	28	35963											
SLC15A1	6564	broad.mit.edu	37	13	99337171	99337171	+	Splice_Site	SNP	T	T	C			TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr13:99337171T>C	ENST00000376503.5	-	23	1991		c.e23-2			NM_005073.3	NP_005064.1	P46059	S15A1_HUMAN	solute carrier family 15 (oligopeptide transporter), member 1						digestion|protein transport	integral to plasma membrane|membrane fraction	peptide:hydrogen symporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Cefadroxil(DB01140)|Ceftibuten(DB01415)|Cyclacillin(DB01000)	CTCGGCCCACTTTGAAGAAAT	0.428													8	15					0	0	1	0	0	C	99337171	T	C	99337171	5	2	455	1	0	0	0	0	0	0	1	0	14453	1623	56	3	196	3	SLC15A1	13	99337171	Splice_Site	SNP	T	TCGA-S9-A89V-01A-11D-A36O-08	62588501	99337171	15832707	29	35964											
MGA	23269	broad.mit.edu	37	15	42019568	42019568	+	Silent	SNP	A	A	G			TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr15:42019568A>G	ENST00000219905.7	+	10	3802	c.3621A>G	c.(3619-3621)aaA>aaG	p.K1207K	MGA_ENST00000545763.1_Silent_p.K1207K|MGA_ENST00000570161.1_Silent_p.K1207K|MGA_ENST00000566586.1_Silent_p.K1207K|MGA_ENST00000389936.4_Silent_p.K1207K	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN	MGA, MAX dimerization protein	1207						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		CTGGAATTAAATCTCCACGGT	0.413													23	99					0	0	1	0	0	G	42019568	A	G	42019568	2	3	455	1	0	0	0	0	0	0	0	1	9590	98	4	3		3	MGA	15	42019568	Silent	SNP	A	TCGA-S9-A89V-01A-11D-A36O-08		42019568	60511824	30	35965											
TTBK2	146057	broad.mit.edu	37	15	43045134	43045138	+	Frame_Shift_Del	DEL	AAATT	AAATT	-			TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr15:43045134_43045138delAAATT	ENST00000267890.6	-	14	2414_2418	c.2306_2310delAATTT	c.(2305-2310)gaatttfs	p.EF769fs		NM_173500.3	NP_775771.3	Q6IQ55	TTBK2_HUMAN	tau tubulin kinase 2	769					cell death		ATP binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;3.23e-07)		GGAGATTTTCAAATTCTCTCACAAC	0.39													20	180	---	---	---	---						-	43045138	AAATT	-	43045134	7	5	455	1	0	1	0	1	0	0	0	0	16739	127	5	0	1432	0	TTBK2	15	43045134	Frame_Shift_Del	DEL	AAATT	TCGA-S9-A89V-01A-11D-A36O-08	1025566	43045134	59486258	31	35966											
MEX3B	84206	broad.mit.edu	37	15	82337987	82337989	+	In_Frame_Del	DEL	GCC	GCC	-			TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr15:82337987_82337989delGCC	ENST00000558133.1	-	1	471_473	c.58_60delGGC	c.(58-60)ggcdel	p.G20del	MEX3B_ENST00000329713.4_In_Frame_Del_p.G20del			Q6ZN04	MEX3B_HUMAN	mex-3 RNA binding family member B	20					protein autophosphorylation	cytoplasmic mRNA processing body|nucleus	calcium ion binding|RNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1)	19						CTccgctgctgccgccgccgccg	0.754													3	6	---	---	---	---						-	82337989	GCC	-	82337987	7	5	455	1	0	1	0	1	0	0	0	0	9560	1306	46	0	1657	0	MEX3B	15	82337987	In_Frame_Del	DEL	GCC	TCGA-S9-A89V-01A-11D-A36O-08	39292853	82337987	20193405	32	35967											
PKD1L2	114780	broad.mit.edu	37	16	81183425	81183425	+	RNA	SNP	G	G	A			TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr16:81183425G>A	ENST00000533478.1	-	0	2678				PKD1L2_ENST00000525539.1_RNA	NM_001278425.1	NP_001265354.1	Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						TGCGAGCGCAGCGGCTGAAGA	0.607													8	30					0	0	1	0	0	A	81183425	G	A	81183425	1	1	455	0	1	0	0	0	0	0	0	0	12013	958	34	2		2	PKD1L2	16	81183425	RNA	SNP	G	TCGA-S9-A89V-01A-11D-A36O-08		81183425	9171328	33	35968											
MYH1	4619	broad.mit.edu	37	17	10404747	10404747	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr17:10404747G>A	ENST00000226207.5	-	27	3512	c.3418C>T	c.(3418-3420)Cgc>Tgc	p.R1140C	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1140						muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						AGATCAGAGCGCTGCTTCTCT	0.587													15	72					0	0	1	0	0	A	10404747	G	A	10404747	3	1	455	1	0	0	0	0	1	0	0	0	10077	1087	38	1	2457	1	MYH1	17	10404747	Missense_Mutation	SNP	G	TCGA-S9-A89V-01A-11D-A36O-08		10404747	70790463	34	35969											
MAPK7	5598	broad.mit.edu	37	17	19284565	19284565	+	Missense_Mutation	SNP	C	C	G			TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr17:19284565C>G	ENST00000308406.5	+	4	1429	c.1043C>G	c.(1042-1044)gCc>gGc	p.A348G	MAPK7_ENST00000571657.1_Intron|MAPK7_ENST00000395602.4_Missense_Mutation_p.A348G|MAPK7_ENST00000299612.7_Missense_Mutation_p.A209G|MAPK7_ENST00000395604.3_Missense_Mutation_p.A348G	NM_139033.2	NP_620602.2	Q13164	MK07_HUMAN	mitogen-activated protein kinase 7	348	Necessary for oligomerization (By similarity).				cell cycle|cell differentiation|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase activity|protein binding			autonomic_ganglia(1)|central_nervous_system(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(9)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	30	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)					CCTTTCCTGGCCAAGTACCAT	0.612													5	54					0	0	1	0	0	G	19284565	C	G	19284565	3	3	455	1	0	0	0	0	1	0	0	0	9332	739	26	5	1053	5	MAPK7	17	19284565	Missense_Mutation	SNP	C	TCGA-S9-A89V-01A-11D-A36O-08	8879818	19284565	61910645	35	35970											
NF1	4763	broad.mit.edu	37	17	29527526	29527527	+	Frame_Shift_Ins	INS	-	-	A			TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr17:29527526_29527527insA	ENST00000358273.4	+	9	1358_1359	c.975_976insA	c.(976-978)aaafs	p.K326fs	NF1_ENST00000431387.4_Frame_Shift_Ins_p.K326fs|NF1_ENST00000356175.3_Frame_Shift_Ins_p.K326fs	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	326					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(6)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TTGCCTGTGTCAAACTGTGTAA	0.406			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			18	72	---	---	---	---						A	29527527	-	A	29527526	7	5	455	1	0	1	1	0	0	0	0	0	10403	813	29	0	1009	0	NF1	17	29527526	Frame_Shift_Ins	INS	-	TCGA-S9-A89V-01A-11D-A36O-08	10242961	29527526	51667684	36	35971											
NF1	4763	broad.mit.edu	37	17	29665041	29665041	+	Nonsense_Mutation	SNP	A	A	T			TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr17:29665041A>T	ENST00000444181.2	+	2	86	c.82A>T	c.(82-84)Aga>Tga	p.R28*	NF1_ENST00000417592.2_Intron|NF1_ENST00000358273.4_Splice_Site|NF1_ENST00000356175.3_Splice_Site			P21359	NF1_HUMAN	neurofibromin 1	2235					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(3)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TTTTAATTGCAGATTTGCATT	0.318			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			30	67					0	0	1	0	0	T	29665041	A	T	29665041	4	4	455	1	0	0	0	0	0	1	0	0	10403	202	7	5	6942	5	NF1	17	29665041	Nonsense_Mutation	SNP	A	TCGA-S9-A89V-01A-11D-A36O-08	137515	29665041	51530169	37	35972											
GGNBP2	79893	broad.mit.edu	37	17	34901690	34901691	+	Frame_Shift_Ins	INS	-	-	C			TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr17:34901690_34901691insC	ENST00000485685.2	+	2	409_410	c.117_118insC	c.(118-120)cccfs	p.P40fs	GGNBP2_ENST00000304718.4_Intron			Q9H3C7	GGNB2_HUMAN	gametogenetin binding protein 2	0					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasmic membrane-bounded vesicle				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)	38		Breast(25;0.00957)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		gccgggctgggcccgccgcTCC	0.678													4	3	---	---	---	---						C	34901691	-	C	34901690	7	5	455	1	0	1	1	0	0	0	0	0	6401	1218	42	0		0	GGNBP2	17	34901690	Frame_Shift_Ins	INS	-	TCGA-S9-A89V-01A-11D-A36O-08	5236649	34901690	46293520	38	35973											
KRT25	147183	broad.mit.edu	37	17	38905574	38905574	+	Silent	SNP	G	G	T			TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr17:38905574G>T	ENST00000312150.4	-	7	1239	c.1179C>A	c.(1177-1179)gcC>gcA	p.A393A		NM_181534.3	NP_853512.1	Q7Z3Z0	K1C25_HUMAN	keratin 25	393	Tail.					cytoplasm|intermediate filament	structural molecule activity			endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4)	16		Breast(137;0.00526)				CAGACTTACAGGCTCTGTGAA	0.378													11	105					0.00010058	0.000107399	1	1	0	T	38905574	G	T	38905574	2	4	455	1	0	0	0	0	0	0	0	1	8505	987	35	4		4	KRT25	17	38905574	Silent	SNP	G	TCGA-S9-A89V-01A-11D-A36O-08	4003884	38905574	42289636	39	35974											
RNF125	54941	broad.mit.edu	37	18	29645962	29645962	+	Missense_Mutation	SNP	A	A	C			TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr18:29645962A>C	ENST00000217740.3	+	5	1094	c.602A>C	c.(601-603)gAt>gCt	p.D201A	RP11-53I6.2_ENST00000583184.1_RNA|RNF125_ENST00000583384.1_3'UTR	NM_017831.3	NP_060301.2	Q96EQ8	RN125_HUMAN	ring finger protein 125, E3 ubiquitin protein ligase	201					negative regulation of type I interferon production	intracellular	ligase activity|zinc ion binding			endometrium(1)|lung(4)|upper_aerodigestive_tract(1)	6						TTGTTTTATGATGATTTCATA	0.338													11	70					0	0	1	0	0	C	29645962	A	C	29645962	3	2	455	1	0	0	0	0	1	0	0	0	13486	333	12	4	620	4	RNF125	18	29645962	Missense_Mutation	SNP	A	TCGA-S9-A89V-01A-11D-A36O-08		29645962	48431286	40	35975											
SERPINB7	8710	broad.mit.edu	37	18	61449741	61449741	+	Silent	SNP	C	C	T			TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr18:61449741C>T	ENST00000398019.2	+	2	460	c.135C>T	c.(133-135)ggC>ggT	p.G45G	SERPINB7_ENST00000336429.2_Silent_p.G45G|SERPINB7_ENST00000546027.1_Silent_p.G45G|SERPINB7_ENST00000540675.1_Silent_p.G45G	NM_003784.3	NP_003775.1	O75635	SPB7_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 7	45					regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	27		Esophageal squamous(42;0.129)				TCCGCTTGGGCGCTCAAGATG	0.478													21	56					0	0	1	0	0	T	61449741	C	T	61449741	2	4	455	1	0	0	0	0	0	0	0	1	14160	755	27	1		1	SERPINB7	18	61449741	Silent	SNP	C	TCGA-S9-A89V-01A-11D-A36O-08	31803779	61449741	16627507	41	35976											
MCOLN1	57192	broad.mit.edu	37	19	7593548	7593548	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr19:7593548C>T	ENST00000264079.6	+	8	1068	c.943C>T	c.(943-945)Ctc>Ttc	p.L315F		NM_020533.2	NP_065394.1	Q9GZU1	MCLN1_HUMAN	mucolipin 1	315					calcium ion transport|cellular iron ion homeostasis|transferrin transport	integral to plasma membrane|late endosome membrane|lysosomal membrane	cation channel activity|iron ion transmembrane transporter activity			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						GTCCTTCCTCCTCTGCGCCCG	0.632													4	41					0	0	1	0	0	T	7593548	C	T	7593548	3	4	455	1	0	0	0	0	1	0	0	0	9445	681	24	2	973	2	MCOLN1	19	7593548	Missense_Mutation	SNP	C	TCGA-S9-A89V-01A-11D-A36O-08		7593548	51535435	42	35977											
OR1M1	125963	broad.mit.edu	37	19	9204135	9204135	+	Missense_Mutation	SNP	G	G	C			TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr19:9204135G>C	ENST00000429566.3	+	1	281	c.215G>C	c.(214-216)tGt>tCt	p.C72S		NM_001004456.1	NP_001004456.1	Q8NGA1	OR1M1_HUMAN	olfactory receptor, family 1, subfamily M, member 1	72					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|large_intestine(3)|lung(17)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						GTTGATTTCTGTCTGGCCACC	0.547													13	57					0	0	1	0	0	C	9204135	G	C	9204135	3	2	455	1	0	0	0	0	1	0	0	0	11016	1377	48	5	217	5	OR1M1	19	9204135	Missense_Mutation	SNP	G	TCGA-S9-A89V-01A-11D-A36O-08	1610587	9204135	49924848	43	35978											
ZNF699	374879	broad.mit.edu	37	19	9413161	9413161	+	Missense_Mutation	SNP	T	T	A			TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr19:9413161T>A	ENST00000591998.1	-	3	296	c.68A>T	c.(67-69)gAt>gTt	p.D23V	ZNF699_ENST00000308650.3_Missense_Mutation_p.D23V|ZNF699_ENST00000588336.1_5'UTR			Q32M78	ZN699_HUMAN	zinc finger protein 699	23	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CACAGCCACATCCTCAAAGAC	0.463													6	66					0	0	1	0	0	A	9413161	T	A	9413161	3	1	455	1	0	0	0	0	1	0	0	0	18157	1435	50	4	1876	4	ZNF699	19	9413161	Missense_Mutation	SNP	T	TCGA-S9-A89V-01A-11D-A36O-08	209026	9413161	49715822	44	35979											
UPF1	5976	broad.mit.edu	37	19	18968242	18968242	+	Silent	SNP	G	G	A			TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr19:18968242G>A	ENST00000262803.5	+	15	2354	c.2082G>A	c.(2080-2082)cgG>cgA	p.R694R	UPF1_ENST00000599848.1_Silent_p.R705R	NM_002911.3	NP_002902.2	Q92900	RENT1_HUMAN	UPF1 regulator of nonsense transcripts homolog (yeast)	705					cell cycle|DNA repair|DNA replication|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination	chromatin|cytoplasmic mRNA processing body|exon-exon junction complex	ATP binding|ATP-dependent RNA helicase activity|chromatin binding|DNA binding|protein binding|RNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						TGGGCATCCGGCCCATCCGCC	0.647													13	29					0	0	1	0	0	A	18968242	G	A	18968242	2	1	455	1	0	0	0	0	0	0	0	1	17063	1190	42	2		2	UPF1	19	18968242	Silent	SNP	G	TCGA-S9-A89V-01A-11D-A36O-08	9555081	18968242	40160741	45	35980											
ZNF28	7576	broad.mit.edu	37	19	53303413	53303413	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr19:53303413C>T	ENST00000438150.2	-	2	2419	c.1526G>A	c.(1525-1527)cGc>cAc	p.R509H	ZNF28_ENST00000414252.2_Missense_Mutation_p.R509H|ZNF28_ENST00000360272.4_Missense_Mutation_p.R509H|ZNF28_ENST00000457749.2_Missense_Mutation_p.R562H			P17035	ZNF28_HUMAN	zinc finger protein 28	562					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)		GTGTGATTTGCGACTGAAAAC	0.413													4	127					0	0	1	0	0	T	53303413	C	T	53303413	3	4	455	1	0	0	0	0	1	0	0	0	17871	768	27	1	475	1	ZNF28	19	53303413	Missense_Mutation	SNP	C	TCGA-S9-A89V-01A-11D-A36O-08	34335171	53303413	5825570	46	35981											
LILRB5	10990	broad.mit.edu	37	19	54754820	54754820	+	Missense_Mutation	SNP	T	T	G	rs429425	by1000genomes	TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr19:54754820T>G	ENST00000450632.1	-	13	1892	c.1815A>C	c.(1813-1815)ttA>ttC	p.L605F	LILRB5_ENST00000345866.6_Intron|LILRB5_ENST00000316219.5_Intron|LILRB5_ENST00000449561.2_Intron			O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5	440					cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GAGTGAGAGGTAAGGAACGTG	0.607													3	26					0	0	1	0	0	G	54754820	T	G	54754820	3	3	455	1	0	0	0	0	1	0	0	0	8834	1653	57	5		5	LILRB5	19	54754820	Missense_Mutation	SNP	T	TCGA-S9-A89V-01A-11D-A36O-08	1451407	54754820	4374163	47	35982											
KIR2DL1	3802	broad.mit.edu	37	19	55281318	55281318	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr19:55281318G>A	ENST00000336077.6	+	1	56	c.16G>A	c.(16-18)Gtc>Atc	p.V6I	KIR3DL1_ENST00000541392.1_Intron|KIR2DL3_ENST00000434419.2_Intron|CTB-61M7.1_ENST00000400864.3_RNA|KIR2DL1_ENST00000291633.7_Missense_Mutation_p.V6I|KIR3DL1_ENST00000538269.1_Intron|KIR3DL1_ENST00000402254.2_Intron|KIR2DL4_ENST00000396284.2_Intron	NM_014218.2	NP_055033.2	P43626	KI2L1_HUMAN	killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1	6					immune response|natural killer cell inhibitory signaling pathway	integral to plasma membrane	protein binding|receptor activity			breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	17				GBM - Glioblastoma multiforme(193;0.0192)		GCTCTTGGTCGTCAGCATGGC	0.607											OREG0003674	type=REGULATORY REGION|Gene=KIR2DL1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	13	55					0	0	1	0	0	A	55281318	G	A	55281318	3	1	455	1	0	0	0	0	1	0	0	0	8359	1145	40	1	18	1	KIR2DL1	19	55281318	Missense_Mutation	SNP	G	TCGA-S9-A89V-01A-11D-A36O-08	526498	55281318	3847665	48	35983											
DHX35	60625	broad.mit.edu	37	20	37601286	37601286	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr20:37601286A>G	ENST00000252011.3	+	3	292	c.259A>G	c.(259-261)Att>Gtt	p.I87V	DHX35_ENST00000373325.2_Missense_Mutation_p.I87V|DHX35_ENST00000373323.4_Intron	NM_021931.3	NP_068750.2	Q9H5Z1	DHX35_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 35	87	Helicase ATP-binding.					catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	40		Myeloproliferative disorder(115;0.00878)				GAGCACACAGATTCCTCAGGT	0.333													6	42					0	0	1	0	0	G	37601286	A	G	37601286	3	3	455	1	0	0	0	0	1	0	0	0	4536	333	12	3	269	3	DHX35	20	37601286	Missense_Mutation	SNP	A	TCGA-S9-A89V-01A-11D-A36O-08		37601286	25424234	49	35984											
ZFP64	55734	broad.mit.edu	37	20	50701500	50701500	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr20:50701500C>T	ENST00000361387.2	-	9	1594	c.1534G>A	c.(1534-1536)Gtg>Atg	p.V512M	ZFP64_ENST00000371518.2_Intron|ZFP64_ENST00000371523.4_Missense_Mutation_p.V293M	NM_199427.2	NP_955459.2	Q9NPA5	ZF64A_HUMAN	ZFP64 zinc finger protein	360					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						CTGCTGTGCACGCGCAGGGCG	0.657													10	52					0	0	1	0	0	T	50701500	C	T	50701500	3	4	455	1	0	0	0	0	1	0	0	0	17710	536	19	1	407	1	ZFP64	20	50701500	Missense_Mutation	SNP	C	TCGA-S9-A89V-01A-11D-A36O-08	13100214	50701500	12324020	50	35985											
GRIK1	2897	broad.mit.edu	37	21	31045398	31045398	+	Missense_Mutation	SNP	C	C	A			TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr21:31045398C>A	ENST00000399914.1	-	4	1152	c.631G>T	c.(631-633)Gat>Tat	p.D211Y	GRIK1_ENST00000327783.4_Missense_Mutation_p.D211Y|GRIK1_ENST00000389125.3_Missense_Mutation_p.D211Y|GRIK1_ENST00000472429.1_5'UTR|GRIK1_ENST00000389124.2_Missense_Mutation_p.D211Y|GRIK1_ENST00000309434.7_Missense_Mutation_p.D211Y|GRIK1_ENST00000399913.1_Missense_Mutation_p.D211Y|GRIK1_ENST00000535441.1_Missense_Mutation_p.D211Y|GRIK1_ENST00000399909.1_Missense_Mutation_p.D211Y|GRIK1_ENST00000399907.1_Missense_Mutation_p.D211Y			P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	211					central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					L-Glutamic Acid(DB00142)|Topiramate(DB00273)	GGCTTGGCATCTTTATTCCCA	0.403													19	140					5.35267e-07	6.02175e-07	1	1	0	A	31045398	C	A	31045398	3	1	455	1	0	0	0	0	1	0	0	0	6814	913	32	4	2341	4	GRIK1	21	31045398	Missense_Mutation	SNP	C	TCGA-S9-A89V-01A-11D-A36O-08		31045398	17084497	51	35986											
UMODL1	89766	broad.mit.edu	37	21	43547321	43547321	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr21:43547321G>A	ENST00000400424.2	+	19	3679	c.3283G>A	c.(3283-3285)Gac>Aac	p.D1095N	UMODL1_ENST00000400423.2_3'UTR|UMODL1_ENST00000400427.1_Missense_Mutation_p.D1223N|UMODL1_ENST00000408910.2_Missense_Mutation_p.D1167N|UMODL1_ENST00000408989.2_Missense_Mutation_p.D1295N	NM_001199528.2	NP_001186457	Q5DID0	UROL1_HUMAN	uromodulin-like 1		ZP.					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						CAACGCCCGGGACCCCATCAC	0.567													21	32					0	0	1	0	0	A	43547321	G	A	43547321	3	1	455	1	0	0	0	0	1	0	0	0	17040	1174	41	2	3953	2	UMODL1	21	43547321	Missense_Mutation	SNP	G	TCGA-S9-A89V-01A-11D-A36O-08	12501923	43547321	4582574	52	35987											
ATRX	546	broad.mit.edu	37	X	76920157	76920157	+	Frame_Shift_Del	DEL	T	T	-			TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chrX:76920157delT	ENST00000373344.5	-	11	4134	c.3920delA	c.(3919-3921)aatfs	p.N1307fs	ATRX_ENST00000395603.3_Frame_Shift_Del_p.N1269fs|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1307					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)	GTTTTCTTCATTTTGTTTTCC	0.373			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						44	47	---	---	---	---						-	76920157	T	-	76920157	7	5	455	1	0	1	0	1	0	0	0	0	1206	1493	52	0	3658	0	ATRX	23	76920157	Frame_Shift_Del	DEL	T	TCGA-S9-A89V-01A-11D-A36O-08		76920157	78350403	53	35988											
CNGA2	1260	broad.mit.edu	37	X	150912517	150912517	+	Silent	SNP	G	G	A			TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chrX:150912517G>A	ENST00000329903.4	+	6	1575	c.1542G>A	c.(1540-1542)tcG>tcA	p.S514S		NM_005140.1	NP_005131.1	Q16280	CNGA2_HUMAN	cyclic nucleotide gated channel alpha 2	514					response to stimulus|sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2)	49	Acute lymphoblastic leukemia(192;6.56e-05)					CTCTGCTGTCGGCTGGAAGCT	0.512													14	31					0	0	1	0	0	A	150912517	G	A	150912517	2	1	455	1	0	0	0	0	0	0	0	1	3620	1103	39	1		1	CNGA2	23	150912517	Silent	SNP	G	TCGA-S9-A89V-01A-11D-A36O-08	73992360	150912517	4358043	54	35989											
HOOK1	51361	broad.mit.edu	37	1	60314160	60314160	+	Missense_Mutation	SNP	G	G	A	rs143143349		TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr1:60314160G>A	ENST00000371208.3	+	11	1360	c.1103G>A	c.(1102-1104)cGt>cAt	p.R368H	HOOK1_ENST00000395561.2_Missense_Mutation_p.R326H|HOOK1_ENST00000465876.1_3'UTR	NM_015888.4	NP_056972.1	Q9UJC3	HOOK1_HUMAN	hook microtubule-tethering protein 1	368	Sufficient for interaction with microtubules.				early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|multicellular organismal development|protein transport	FHF complex|microtubule	identical protein binding			biliary_tract(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|urinary_tract(1)	29	all_cancers(7;0.000129)					AATGCAGCACGTACACAATTA	0.308													5	62					0	0	1	0	0	A	60314160	G	A	60314160	3	1	456	1	0	0	0	0	1	0	0	0	7323	1145	40	1	1145	1	HOOK1	1	60314160	Missense_Mutation	SNP	G	TCGA-S9-A89Z-01A-11D-A36O-08		60314160	188936461	1	35990											
FLG	2312	broad.mit.edu	37	1	152275641	152275641	+	Silent	SNP	G	G	A			TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr1:152275641G>A	ENST00000368799.1	-	3	11756	c.11721C>T	c.(11719-11721)cgC>cgT	p.R3907R	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3907	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGGCTGTATCGCGGTGAGAGG	0.502									Ichthyosis				4	78					0	0	1	0	0	A	152275641	G	A	152275641	2	1	456	1	0	0	0	0	0	0	0	1	5955	1074	38	1		1	FLG	1	152275641	Silent	SNP	G	TCGA-S9-A89Z-01A-11D-A36O-08	91961481	152275641	96974980	2	35991											
SPRR1B	6699	broad.mit.edu	37	1	153004933	153004933	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr1:153004933A>G	ENST00000307098.4	+	2	177	c.112A>G	c.(112-114)Aag>Gag	p.K38E	SPRR1B_ENST00000392661.3_Missense_Mutation_p.K38E	NM_003125.2	NP_003116.2	P22528	SPR1B_HUMAN	small proline-rich protein 1B	38	6 X 8 AA approximate tandem repeats.				keratinization|peptide cross-linking	cornified envelope|cytoplasm	protein binding, bridging|structural molecule activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|ovary(2)|skin(2)	9	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CCCCAAAACCAAGGAGCCCTG	0.642													6	95					0	0	1	0	0	G	153004933	A	G	153004933	3	3	456	1	0	0	0	0	1	0	0	0	15152	131	5	3	114	3	SPRR1B	1	153004933	Missense_Mutation	SNP	A	TCGA-S9-A89Z-01A-11D-A36O-08	729292	153004933	96245688	3	35992											
HMCN1	83872	broad.mit.edu	37	1	185959534	185959534	+	Silent	SNP	T	T	C			TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr1:185959534T>C	ENST00000271588.4	+	22	3565	c.3336T>C	c.(3334-3336)acT>acC	p.T1112T	HMCN1_ENST00000367492.2_Silent_p.T1112T|HMCN1_ENST00000485744.1_3'UTR	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	1112	Ig-like C2-type 8.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CCATAATTACTTGGGCCAAAG	0.478													44	48					0	0	1	0	0	C	185959534	T	C	185959534	2	2	456	1	0	0	0	0	0	0	0	1	7261	1596	56	3		3	HMCN1	1	185959534	Silent	SNP	T	TCGA-S9-A89Z-01A-11D-A36O-08	32954601	185959534	63291087	4	35993											
HMCN1	83872	broad.mit.edu	37	1	186014861	186014861	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr1:186014861C>T	ENST00000271588.4	+	41	6575	c.6346C>T	c.(6346-6348)Ctc>Ttc	p.L2116F	HMCN1_ENST00000367492.2_Missense_Mutation_p.L2116F	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	2116	Ig-like C2-type 19.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TGTCTCTGTCCTCATTAGCCA	0.433													21	53					0	0	1	0	0	T	186014861	C	T	186014861	3	4	456	1	0	0	0	0	1	0	0	0	7261	681	24	2	6508	2	HMCN1	1	186014861	Missense_Mutation	SNP	C	TCGA-S9-A89Z-01A-11D-A36O-08	55327	186014861	63235760	5	35994											
DISP1	84976	broad.mit.edu	37	1	223176649	223176649	+	Missense_Mutation	SNP	C	C	T	rs148231227	by1000genomes	TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr1:223176649C>T	ENST00000284476.6	+	8	2074	c.1910C>T	c.(1909-1911)gCg>gTg	p.A637V		NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	637	SSD.				diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity	p.A637V(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		GGGGTTTATGCGGGGACAGCT	0.448													5	180					0	0	1	0	0	T	223176649	C	T	223176649	3	4	456	1	0	0	0	0	1	0	0	0	4567	768	27	1	1936	1	DISP1	1	223176649	Missense_Mutation	SNP	C	TCGA-S9-A89Z-01A-11D-A36O-08	37161788	223176649	26073972	6	35995											
OR2G2	81470	broad.mit.edu	37	1	247752061	247752061	+	Missense_Mutation	SNP	C	C	A			TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr1:247752061C>A	ENST00000320065.1	+	1	400	c.400C>A	c.(400-402)Cat>Aat	p.H134N	RP11-978I15.10_ENST00000435333.1_RNA|RP11-978I15.10_ENST00000446347.1_RNA	NM_001001915.1	NP_001001915.1	Q8NGZ5	OR2G2_HUMAN	olfactory receptor, family 2, subfamily G, member 2	134					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_cancers(71;3.24e-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)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			CCGTCCTCTCCATTACACTGT	0.547													46	185					8.48111e-28	9.36226e-28	1	1	0	A	247752061	C	A	247752061	3	1	456	1	0	0	0	0	1	0	0	0	11046	594	21	5	402	5	OR2G2	1	247752061	Missense_Mutation	SNP	C	TCGA-S9-A89Z-01A-11D-A36O-08	24575412	247752061	1498560	7	35996											
OR2G2	81470	broad.mit.edu	37	1	247752350	247752350	+	Missense_Mutation	SNP	G	G	T			TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr1:247752350G>T	ENST00000320065.1	+	1	689	c.689G>T	c.(688-690)aGg>aTg	p.R230M	RP11-978I15.10_ENST00000435333.1_RNA|RP11-978I15.10_ENST00000446347.1_RNA	NM_001001915.1	NP_001001915.1	Q8NGZ5	OR2G2_HUMAN	olfactory receptor, family 2, subfamily G, member 2	230					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_cancers(71;3.24e-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)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			GCAGTGTTGAGGATTAAGTCA	0.473													65	44					4.83814e-26	5.27233e-26	1	1	0	T	247752350	G	T	247752350	3	4	456	1	0	0	0	0	1	0	0	0	11046	1000	35	4	691	4	OR2G2	1	247752350	Missense_Mutation	SNP	G	TCGA-S9-A89Z-01A-11D-A36O-08	289	247752350	1498271	8	35997											
RAD51AP2	729475	broad.mit.edu	37	2	17696859	17696859	+	Missense_Mutation	SNP	A	A	T			TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr2:17696859A>T	ENST00000399080.2	-	1	2847	c.2824T>A	c.(2824-2826)Tgt>Agt	p.C942S		NM_001099218.2	NP_001092688.1	Q09MP3	R51A2_HUMAN	RAD51 associated protein 2	942										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TCCTGAAAACATTCATCATTC	0.318													14	29					0	0	1	0	0	T	17696859	A	T	17696859	3	4	456	1	0	0	0	0	1	0	0	0	13039	217	8	4	667	4	RAD51AP2	2	17696859	Missense_Mutation	SNP	A	TCGA-S9-A89Z-01A-11D-A36O-08		17696859	225502514	9	35998											
USP34	9736	broad.mit.edu	37	2	61622338	61622338	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr2:61622338C>T	ENST00000398571.2	-	4	659	c.583G>A	c.(583-585)Ggg>Agg	p.G195R		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	195					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			CAGAATGCCCCTAATATGTTA	0.224													8	30					0	0	1	0	0	T	61622338	C	T	61622338	3	4	456	1	0	0	0	0	1	0	0	0	17125	681	24	2	10365	2	USP34	2	61622338	Missense_Mutation	SNP	C	TCGA-S9-A89Z-01A-11D-A36O-08	43925479	61622338	181577035	10	35999											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								17	44					0	0	1	0	0	T	209113112	C	T	209113112	3	4	456	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-S9-A89Z-01A-11D-A36O-08	147490774	209113112	34086261	11	36000											
PTH2R	5746	broad.mit.edu	37	2	209358134	209358135	+	Frame_Shift_Ins	INS	-	-	CACA			TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr2:209358134_209358135insCACA	ENST00000272847.2	+	13	1616_1617	c.1403_1404insCACA	c.(1402-1407)agcacafs	p.-469fs	AC019185.4_ENST00000424628.1_RNA|PTH2R_ENST00000413482.1_3'UTR	NM_005048.2	NP_005039.1	P49190	PTH2R_HUMAN	parathyroid hormone 2 receptor							integral to plasma membrane	parathyroid hormone receptor activity	p.S468N(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(21)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43				Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)		GTGGCGGCCAGCACACGCATGG	0.594													7	18	---	---	---	---						CACA	209358135	-	CACA	209358134	7	5	456	1	0	1	1	0	0	0	0	0	12810	971	34	0	1453	0	PTH2R	2	209358134	Frame_Shift_Ins	INS	-	TCGA-S9-A89Z-01A-11D-A36O-08	245022	209358134	33841239	12	36001											
COLQ	8292	broad.mit.edu	37	3	15520493	15520493	+	Silent	SNP	T	T	C			TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr3:15520493T>C	ENST00000383785.2	-	5	509	c.384A>G	c.(382-384)ccA>ccG	p.P128P	COLQ_ENST00000383787.2_Intron|COLQ_ENST00000383781.4_Silent_p.P118P|COLQ_ENST00000435459.2_Silent_p.P118P|COLQ_ENST00000383786.5_Silent_p.P94P|COLQ_ENST00000603808.1_Silent_p.P128P|COLQ_ENST00000383788.5_Silent_p.P128P			Q9Y215	COLQ_HUMAN	collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase	128	Collagen-like 1.				acetylcholine catabolic process in synaptic cleft|asymmetric protein localization	basal lamina|cell junction|collagen|extracellular space|synaptic cleft				endometrium(2)|large_intestine(4)|lung(10)|skin(3)	19						CCTTCCTTCCTGGTCGGCCAA	0.537													4	69					0	0	1	0	0	C	15520493	T	C	15520493	2	2	456	1	0	0	0	0	0	0	0	1	3736	1567	55	3		3	COLQ	3	15520493	Silent	SNP	T	TCGA-S9-A89Z-01A-11D-A36O-08		15520493	182501937	13	36002											
MORC1	27136	broad.mit.edu	37	3	108776215	108776215	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr3:108776215C>T	ENST00000232603.5	-	13	1232	c.1150G>A	c.(1150-1152)Ggc>Agc	p.G384S	MORC1_ENST00000483760.1_Missense_Mutation_p.G384S	NM_014429.3	NP_055244.3	Q86VD1	MORC1_HUMAN	MORC family CW-type zinc finger 1	384					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						AACTGTGAGCCCACTTTTTCA	0.403													46	61					0	0	1	0	0	T	108776215	C	T	108776215	3	4	456	1	0	0	0	0	1	0	0	0	9750	623	22	2	1868	2	MORC1	3	108776215	Missense_Mutation	SNP	C	TCGA-S9-A89Z-01A-11D-A36O-08	93255722	108776215	89246215	14	36003											
MYLK	4638	broad.mit.edu	37	3	123366171	123366171	+	Missense_Mutation	SNP	G	G	A	rs142010566	by1000genomes	TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr3:123366171G>A	ENST00000360772.3	-	28	4897	c.4519C>T	c.(4519-4521)Cgg>Tgg	p.R1507W	MYLK_ENST00000475616.1_Missense_Mutation_p.R1507W|MYLK_ENST00000359169.1_Missense_Mutation_p.R1507W|MYLK_ENST00000346322.5_Missense_Mutation_p.R1438W|MYLK_ENST00000354792.5_Missense_Mutation_p.R307W|MYLK_ENST00000360304.3_Missense_Mutation_p.R1507W			Q15746	MYLK_HUMAN	myosin light chain kinase	1507	Protein kinase.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		ATCTCCTGCCGGATATTCTCT	0.458													4	62					0	0	1	0	0	A	123366171	G	A	123366171	3	1	456	1	0	0	0	0	1	0	0	0	10104	1115	39	1	1257	1	MYLK	3	123366171	Missense_Mutation	SNP	G	TCGA-S9-A89Z-01A-11D-A36O-08	14589956	123366171	74656259	15	36004											
UGT2A1	10941	broad.mit.edu	37	4	70455139	70455139	+	Missense_Mutation	SNP	A	A	T			TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr4:70455139A>T	ENST00000503640.1	-	6	1590	c.1535T>A	c.(1534-1536)tTt>tAt	p.F512Y	UGT2A2_ENST00000457664.2_Missense_Mutation_p.F521Y|UGT2A1_ENST00000512704.1_Missense_Mutation_p.F468Y|UGT2A1_ENST00000514019.1_Missense_Mutation_p.F678Y|UGT2A1_ENST00000286604.4_Missense_Mutation_p.F512Y	NM_006798.3	NP_006789.2	Q9Y4X1	UD2A1_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus	512					detection of chemical stimulus|sensory perception of smell	integral to membrane	glucuronosyltransferase activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						TTGACAGGAAAACAAACAACA	0.353													27	55					0	0	1	0	0	T	70455139	A	T	70455139	3	4	456	1	0	0	0	0	1	0	0	0	17013	14	1	5	52	5	UGT2A1	4	70455139	Missense_Mutation	SNP	A	TCGA-S9-A89Z-01A-11D-A36O-08		70455139	120699137	16	36005											
MUC7	4589	broad.mit.edu	37	4	71347515	71347515	+	Missense_Mutation	SNP	G	G	T			TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr4:71347515G>T	ENST00000413702.1	+	4	1342	c.1054G>T	c.(1054-1056)Ggc>Tgc	p.G352C	MUC7_ENST00000304887.5_Missense_Mutation_p.G352C|MUC7_ENST00000456088.1_Missense_Mutation_p.G352C	NM_001145006.1	NP_001138478.1	Q8TAX7	MUC7_HUMAN	mucin 7, secreted	352						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)			TTCAGCTCCTGGCCAAAATAA	0.373													25	41					4.81078e-24	5.17616e-24	1	1	0	T	71347515	G	T	71347515	3	4	456	1	0	0	0	0	1	0	0	0	10029	1348	47	5	1060	5	MUC7	4	71347515	Missense_Mutation	SNP	G	TCGA-S9-A89Z-01A-11D-A36O-08	892376	71347515	119806761	17	36006											
FAT4	79633	broad.mit.edu	37	4	126411235	126411235	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr4:126411235T>C	ENST00000394329.3	+	17	13271	c.13258T>C	c.(13258-13260)Tat>Cat	p.Y4420H	FAT4_ENST00000335110.5_Missense_Mutation_p.Y2661H	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4420					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TAATCAGTGGTATGCCTACAG	0.577													50	99					0	0	1	0	0	C	126411235	T	C	126411235	3	2	456	1	0	0	0	0	1	0	0	0	5725	1638	57	3	13324	3	FAT4	4	126411235	Missense_Mutation	SNP	T	TCGA-S9-A89Z-01A-11D-A36O-08	55063720	126411235	64743041	18	36007											
FGA	2243	broad.mit.edu	37	4	155505789	155505789	+	Silent	SNP	G	G	A			TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr4:155505789G>A	ENST00000302053.3	-	6	2166	c.2088C>T	c.(2086-2088)ttC>ttT	p.F696F		NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	696	Fibrinogen C-terminal.				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	TCAGGCTGCCGAAACCTCTCT	0.488													22	53					0	0	1	0	0	A	155505789	G	A	155505789	2	1	456	1	0	0	0	0	0	0	0	1	5863	1049	37	1		1	FGA	4	155505789	Silent	SNP	G	TCGA-S9-A89Z-01A-11D-A36O-08	29094554	155505789	35648487	19	36008											
DDX60	55601	broad.mit.edu	37	4	169145434	169145434	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr4:169145434T>C	ENST00000393743.3	-	35	5075	c.4784A>G	c.(4783-4785)aAc>aGc	p.N1595S		NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	1595							ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		ATCATCAAAGTTCCCAGACAG	0.368													13	29					0	0	1	0	0	C	169145434	T	C	169145434	3	2	456	1	0	0	0	0	1	0	0	0	4401	1725	60	3	370	3	DDX60	4	169145434	Missense_Mutation	SNP	T	TCGA-S9-A89Z-01A-11D-A36O-08	13639645	169145434	22008842	20	36009											
CCDC110	256309	broad.mit.edu	37	4	186380117	186380117	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr4:186380117C>T	ENST00000307588.3	-	6	1699	c.1624G>A	c.(1624-1626)Gca>Aca	p.A542T	CCDC110_ENST00000393540.3_Missense_Mutation_p.A505T|CCDC110_ENST00000510617.1_Missense_Mutation_p.A542T	NM_152775.3	NP_689988.1	Q8TBZ0	CC110_HUMAN	coiled-coil domain containing 110	542						nucleus				NS(1)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(9)	30		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749)		OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164)		TGATCTAATGCTTCCATCATT	0.274													10	31					0	0	1	0	0	T	186380117	C	T	186380117	3	4	456	1	0	0	0	0	1	0	0	0	2765	797	28	2	885	2	CCDC110	4	186380117	Missense_Mutation	SNP	C	TCGA-S9-A89Z-01A-11D-A36O-08	17234683	186380117	4774159	21	36010											
TERT	7015	broad.mit.edu	37	5	1268645	1268645	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr5:1268645G>A	ENST00000310581.5	-	9	2629	c.2572C>T	c.(2572-2574)Cgg>Tgg	p.R858W	TERT_ENST00000296820.5_Missense_Mutation_p.S797L|TERT_ENST00000508104.2_Missense_Mutation_p.S797L|TERT_ENST00000334602.6_Missense_Mutation_p.R858W	NM_001193376.1|NM_198253.2	NP_001180305.1|NP_937983.2	O14746	TERT_HUMAN	telomerase reverse transcriptase	858	Reverse transcriptase.				anti-apoptosis|DNA strand elongation|replicative senescence|telomere formation via telomerase|telomere maintenance via telomerase	cytoplasm|nucleolus|PML body|telomerase holoenzyme complex	protein homodimerization activity|telomeric DNA binding|telomeric RNA binding|telomeric template RNA reverse transcriptase activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	41	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			CCGTCCCGCCGAATCCCCGCA	0.602									TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis				15	27					0	0	1	0	0	A	1268645	G	A	1268645	3	1	456	1	0	0	0	0	1	0	0	0	15823	1057	37	1	858	1	TERT	5	1268645	Missense_Mutation	SNP	G	TCGA-S9-A89Z-01A-11D-A36O-08		1268645	179646615	22	36011											
DNAH5	1767	broad.mit.edu	37	5	13758953	13758953	+	Splice_Site	SNP	A	A	T			TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr5:13758953A>T	ENST00000265104.4	-	61	10524		c.e61+1			NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5						microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					AAGGGCAGTTACCTGCTTTTC	0.493									Kartagener syndrome				42	56					0	0	1	0	0	T	13758953	A	T	13758953	5	4	456	1	0	0	0	0	0	0	1	0	4632	405	14	5	3529	5	DNAH5	5	13758953	Splice_Site	SNP	A	TCGA-S9-A89Z-01A-11D-A36O-08	12490308	13758953	167156307	23	36012											
CDH18	1016	broad.mit.edu	37	5	19839062	19839062	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr5:19839062C>T	ENST00000507958.1	-	5	1024	c.34G>A	c.(34-36)Gtc>Atc	p.V12I	CDH18_ENST00000382275.1_Missense_Mutation_p.V12I|CDH18_ENST00000511273.1_Missense_Mutation_p.V12I|CDH18_ENST00000502796.1_Missense_Mutation_p.V12I|CDH18_ENST00000506372.1_Missense_Mutation_p.V12I|CDH18_ENST00000274170.4_Missense_Mutation_p.V12I			Q13634	CAD18_HUMAN	cadherin 18, type 2	12					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					CACACTAGGACTGGACAGATG	0.423													21	39					0	0	1	0	0	T	19839062	C	T	19839062	3	4	456	1	0	0	0	0	1	0	0	0	3125	565	20	2	2382	2	CDH18	5	19839062	Missense_Mutation	SNP	C	TCGA-S9-A89Z-01A-11D-A36O-08	6080109	19839062	161076198	24	36013											
DHX29	54505	broad.mit.edu	37	5	54573002	54573002	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr5:54573002C>T	ENST00000251636.5	-	13	2366	c.2218G>A	c.(2218-2220)Gaa>Aaa	p.E740K	RP11-506H20.1_ENST00000506435.1_RNA	NM_019030.2	NP_061903.2	Q7Z478	DHX29_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 29	740	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|translation initiation factor activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|lung(6)|ovary(4)|prostate(1)|skin(3)|urinary_tract(2)	46		Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183)				GAAAATTTTTCGCTGTCCACA	0.363													6	78					0	0	1	0	0	T	54573002	C	T	54573002	3	4	456	1	0	0	0	0	1	0	0	0	4531	893	31	1	1951	1	DHX29	5	54573002	Missense_Mutation	SNP	C	TCGA-S9-A89Z-01A-11D-A36O-08	34733940	54573002	126342258	25	36014											
MAST4	375449	broad.mit.edu	37	5	66458525	66458525	+	Silent	SNP	A	A	G			TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr5:66458525A>G	ENST00000404260.3	+	28	4193	c.3885A>G	c.(3883-3885)tcA>tcG	p.S1295S	MAST4_ENST00000403666.1_Silent_p.S1103S|MAST4_ENST00000403625.2_Silent_p.S1292S|MAST4_ENST00000261569.7_Silent_p.S1098S|MAST4_ENST00000405643.1_Silent_p.S1113S			O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	1295	Ser-rich.					cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		GATCCCTGTCATCGGGTGAGA	0.537													21	40					0	0	1	0	0	G	66458525	A	G	66458525	2	3	456	1	0	0	0	0	0	0	0	1	9377	204	8	3		3	MAST4	5	66458525	Silent	SNP	A	TCGA-S9-A89Z-01A-11D-A36O-08	11885523	66458525	114456735	26	36015											
IL5	3567	broad.mit.edu	37	5	131879049	131879049	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr5:131879049C>T	ENST00000231454.1	-	1	165	c.122G>A	c.(121-123)cGa>cAa	p.R41Q		NM_000879.2	NP_000870.1	P05113	IL5_HUMAN	interleukin 5 (colony-stimulating factor, eosinophil)	41					immune response|inflammatory response|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of podosome assembly	extracellular space	cytokine activity|growth factor activity|interleukin-5 receptor binding			endometrium(1)|large_intestine(1)|stomach(1)|upper_aerodigestive_tract(1)	4		all_cancers(142;0.0368)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		Pranlukast(DB01411)	CAGCAGAGTTCGATGAGTAGA	0.418													15	30					0	0	1	0	0	T	131879049	C	T	131879049	3	4	456	1	0	0	0	0	1	0	0	0	7743	884	31	1	298	1	IL5	5	131879049	Missense_Mutation	SNP	C	TCGA-S9-A89Z-01A-11D-A36O-08	65420524	131879049	49036211	27	36016											
ZNF354A	6940	broad.mit.edu	37	5	178152410	178152410	+	Missense_Mutation	SNP	C	C	A			TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr5:178152410C>A	ENST00000335815.2	-	4	420	c.223G>T	c.(223-225)Gtg>Ttg	p.V75L		NM_005649.2	NP_005640.2	O60765	Z354A_HUMAN	zinc finger protein 354A	75	KRAB.				regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(7)|lung(3)|ovary(2)|skin(2)|stomach(2)	19	all_cancers(89;0.000536)|Renal(175;0.000159)|all_epithelial(37;0.000221)|Lung NSC(126;0.00308)|all_lung(126;0.00536)	all_cancers(40;0.0452)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.185)		TCTTTCTCCACCTCCCAGGGA	0.507													46	50					2.27781e-18	2.42017e-18	1	1	0	A	178152410	C	A	178152410	3	1	456	1	0	0	0	0	1	0	0	0	17921	507	18	5	1602	5	ZNF354A	5	178152410	Missense_Mutation	SNP	C	TCGA-S9-A89Z-01A-11D-A36O-08	46273361	178152410	2762850	28	36017											
OR12D2	26529	broad.mit.edu	37	6	29364624	29364624	+	Missense_Mutation	SNP	G	G	T			TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr6:29364624G>T	ENST00000383555.2	+	1	209	c.148G>T	c.(148-150)Gat>Tat	p.D50Y	OR5V1_ENST00000377154.1_Intron	NM_013936.3	NP_039224.2	P58182	O12D2_HUMAN	olfactory receptor, family 12, subfamily D, member 2 (gene/pseudogene)	50					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	31						TGTCATCTCCGATCCTAGACT	0.453													36	64					6.97489e-18	7.31933e-18	1	1	0	T	29364624	G	T	29364624	3	4	456	1	0	0	0	0	1	0	0	0	10979	1058	37	5	150	5	OR12D2	6	29364624	Missense_Mutation	SNP	G	TCGA-S9-A89Z-01A-11D-A36O-08		29364624	141750443	29	36018											
GPR111	222611	broad.mit.edu	37	6	47647822	47647822	+	Missense_Mutation	SNP	G	G	T			TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr6:47647822G>T	ENST00000398742.2	+	4	332	c.283G>T	c.(283-285)Gtt>Ttt	p.V95F	GPR111_ENST00000507065.1_Missense_Mutation_p.V95F|GPR111_ENST00000296862.1_Missense_Mutation_p.V163F			Q8IZF7	GP111_HUMAN	G protein-coupled receptor 111	163					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(15)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						TTCACGTTTGGTTCAGCCATT	0.308													11	23					1.58986e-06	1.62817e-06	1	1	0	T	47647822	G	T	47647822	3	4	456	1	0	0	0	0	1	0	0	0	6668	1261	44	5	297	5	GPR111	6	47647822	Missense_Mutation	SNP	G	TCGA-S9-A89Z-01A-11D-A36O-08	18283198	47647822	123467245	30	36019											
FUCA2	2519	broad.mit.edu	37	6	143818531	143818531	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr6:143818531T>C	ENST00000002165.6	-	6	1313	c.1258A>G	c.(1258-1260)Aca>Gca	p.T420A	RP1-20N2.6_ENST00000610068.1_RNA|RP1-20N2.6_ENST00000589563.1_RNA|FUCA2_ENST00000438118.2_3'UTR|RP1-20N2.6_ENST00000591892.1_RNA	NM_032020.4	NP_114409.2	Q9BTY2	FUCO2_HUMAN	fucosidase, alpha-L- 2, plasma						fucose metabolic process	extracellular region	alpha-L-fucosidase activity|cation binding			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9				OV - Ovarian serous cystadenocarcinoma(155;7.45e-06)|GBM - Glioblastoma multiforme(68;0.0142)		CTTACCTCTGTTGCCCCCAGA	0.393													22	26					0	0	1	0	0	C	143818531	T	C	143818531	3	2	456	1	0	0	0	0	1	0	0	0	6130	1725	60	3	153	3	FUCA2	6	143818531	Missense_Mutation	SNP	T	TCGA-S9-A89Z-01A-11D-A36O-08	96170709	143818531	27296536	31	36020											
OPRM1	4988	broad.mit.edu	37	6	154412154	154412154	+	Nonsense_Mutation	SNP	T	T	A			TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr6:154412154T>A	ENST00000414028.2	+	3	761	c.711T>A	c.(709-711)tgT>tgA	p.C237*	OPRM1_ENST00000518759.1_Nonsense_Mutation_p.C156*|OPRM1_ENST00000337049.4_Nonsense_Mutation_p.C237*|OPRM1_ENST00000520708.1_Nonsense_Mutation_p.C137*|OPRM1_ENST00000452687.2_Nonsense_Mutation_p.C237*|OPRM1_ENST00000434900.2_Nonsense_Mutation_p.C330*|OPRM1_ENST00000435918.2_Nonsense_Mutation_p.C237*|OPRM1_ENST00000524163.1_Nonsense_Mutation_p.C237*|OPRM1_ENST00000360422.4_Nonsense_Mutation_p.C237*|OPRM1_ENST00000522555.1_Nonsense_Mutation_p.C137*|OPRM1_ENST00000428397.2_Nonsense_Mutation_p.C237*|OPRM1_ENST00000522236.1_Nonsense_Mutation_p.C137*|OPRM1_ENST00000330432.7_Nonsense_Mutation_p.C237*|OPRM1_ENST00000229768.5_Nonsense_Mutation_p.C237*|OPRM1_ENST00000419506.2_Nonsense_Mutation_p.C237*	NM_001145284.2	NP_001138756.1	P35372	OPRM_HUMAN	opioid receptor, mu 1	237					behavior|negative regulation of cell proliferation|sensory perception	endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	mu-opioid receptor activity|protein binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	33		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;9.26e-11)|BRCA - Breast invasive adenocarcinoma(81;0.0154)	Alfentanil(DB00802)|Anileridine(DB00913)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dezocine(DB01209)|Diphenoxylate(DB01081)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Levallorphan(DB00504)|Levomethadyl Acetate(DB01227)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Methadyl Acetate(DB01433)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tramadol(DB00193)	TGAAGATCTGTGTTTTCATCT	0.438													43	49					0	0	1	0	0	A	154412154	T	A	154412154	4	1	456	1	0	0	0	0	0	1	0	0	10935	1702	59	5	1055	5	OPRM1	6	154412154	Nonsense_Mutation	SNP	T	TCGA-S9-A89Z-01A-11D-A36O-08	10593623	154412154	16702913	32	36021											
SDK1	221935	broad.mit.edu	37	7	4091419	4091419	+	Silent	SNP	C	C	T			TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr7:4091419C>T	ENST00000404826.2	+	19	3007	c.2868C>T	c.(2866-2868)gaC>gaT	p.D956D	SDK1_ENST00000389531.3_Silent_p.D956D	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	956	Fibronectin type-III 3.				cell adhesion	integral to membrane		p.D956D(1)		NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CCCCTGGGGACGGGCCTCCCA	0.527													30	40					0	0	1	0	0	T	4091419	C	T	4091419	2	4	456	1	0	0	0	0	0	0	0	1	14022	535	19	1		1	SDK1	7	4091419	Silent	SNP	C	TCGA-S9-A89Z-01A-11D-A36O-08		4091419	155047244	33	36022											
DDC	1644	broad.mit.edu	37	7	50611777	50611777	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr7:50611777C>T	ENST00000444124.2	-	2	207	c.7G>A	c.(7-9)Gca>Aca	p.A3T	DDC_ENST00000426377.1_Missense_Mutation_p.A3T|DDC_ENST00000380984.4_Missense_Mutation_p.A3T|DDC_ENST00000357936.5_Missense_Mutation_p.A3T|DDC_ENST00000431062.1_Missense_Mutation_p.A3T	NM_001082971.1	NP_001076440	P20711	DDC_HUMAN	dopa decarboxylase (aromatic L-amino acid decarboxylase)	3					cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion	cytosol	aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1)	40	Glioma(55;0.08)|all_neural(89;0.245)				Amantadine(DB00915)|Carbidopa(DB00190)|Flupenthixol(DB00875)|L-Tryptophan(DB00150)|Levodopa(DB01235)|Pimozide(DB01100)|Pyridoxal Phosphate(DB00114)|Remoxipride(DB00409)	AATTCACTTGCGTTCATGGTG	0.512													4	106					0	0	1	0	0	T	50611777	C	T	50611777	3	4	456	1	0	0	0	0	1	0	0	0	4348	768	27	1	1487	1	DDC	7	50611777	Missense_Mutation	SNP	C	TCGA-S9-A89Z-01A-11D-A36O-08	46520358	50611777	108526886	34	36023											
TRIM56	81844	broad.mit.edu	37	7	100730605	100730605	+	Silent	SNP	C	C	T			TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr7:100730605C>T	ENST00000306085.6	+	3	309	c.12C>T	c.(10-12)caC>caT	p.H4H		NM_030961.1	NP_112223.1	Q9BRZ2	TRI56_HUMAN	tripartite motif containing 56	4					defense response to virus|interferon-beta production|protein K63-linked ubiquitination|response to type I interferon	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	Lung NSC(181;0.136)|all_lung(186;0.182)					TGGTTTCCCACGGGTCCTCGC	0.637													8	130					0	0	1	0	0	T	100730605	C	T	100730605	2	4	456	1	0	0	0	0	0	0	0	1	16591	535	19	1		1	TRIM56	7	100730605	Silent	SNP	C	TCGA-S9-A89Z-01A-11D-A36O-08	50118828	100730605	58408058	35	36024											
CPA4	51200	broad.mit.edu	37	7	129962408	129962408	+	Silent	SNP	C	C	T	rs143728099	byFrequency	TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr7:129962408C>T	ENST00000222482.4	+	11	1186	c.1158C>T	c.(1156-1158)acC>acT	p.T386T	CPA4_ENST00000493259.1_Silent_p.T282T|CPA4_ENST00000445470.2_Silent_p.T353T	NM_016352.3	NP_057436.2	Q9UI42	CBPA4_HUMAN	carboxypeptidase A4	386					histone acetylation|proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Melanoma(18;0.0435)					TGAGAGATACCGGGACCTATG	0.537													45	62					0	0	1	0	0	T	129962408	C	T	129962408	2	4	456	1	0	0	0	0	0	0	0	1	3815	639	23	1		1	CPA4	7	129962408	Silent	SNP	C	TCGA-S9-A89Z-01A-11D-A36O-08	29231803	129962408	29176255	36	36025											
NCAPG2	54892	broad.mit.edu	37	7	158443658	158443658	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr7:158443658A>G	ENST00000409339.3	-	24	3054	c.2941T>C	c.(2941-2943)Tat>Cat	p.Y981H	NCAPG2_ENST00000449727.2_Missense_Mutation_p.Y981H|NCAPG2_ENST00000541468.1_Intron|NCAPG2_ENST00000275830.10_Intron|NCAPG2_ENST00000356309.3_Missense_Mutation_p.Y981H|NCAPG2_ENST00000409423.1_Missense_Mutation_p.Y981H	NM_001281933.1	NP_001268862.1	Q86XI2	CNDG2_HUMAN	non-SMC condensin II complex, subunit G2	981					cell division|chromosome condensation|mitosis	nucleus	methylated histone residue binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	39	Ovarian(565;0.152)	all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18)		TGAACAGAATAAAGCAGCTAC	0.393													4	69					0	0	1	0	0	G	158443658	A	G	158443658	3	3	456	1	0	0	0	0	1	0	0	0	10255	362	13	3	510	3	NCAPG2	7	158443658	Missense_Mutation	SNP	A	TCGA-S9-A89Z-01A-11D-A36O-08	28481250	158443658	695005	37	36026											
POLB	5423	broad.mit.edu	37	8	42229122	42229122	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr8:42229122A>G	ENST00000265421.4	+	14	1125	c.955A>G	c.(955-957)Atc>Gtc	p.I319V	POLB_ENST00000521492.1_Missense_Mutation_p.I38V|POLB_ENST00000538005.1_Missense_Mutation_p.I165V	NM_002690.2	NP_002681.1	P06746	DPOLB_HUMAN	polymerase (DNA directed), beta	319					DNA-dependent DNA replication	cytoplasm|nucleoplasm|spindle microtubule	DNA-(apurinic or apyrimidinic site) lyase activity|DNA-directed DNA polymerase activity|enzyme binding|metal ion binding|microtubule binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(5)|ovary(1)	16	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;2.58e-12)|Lung NSC(13;4.24e-11)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.1)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	BRCA - Breast invasive adenocarcinoma(8;3.18e-11)|Lung(22;0.00467)|OV - Ovarian serous cystadenocarcinoma(14;0.00523)|LUSC - Lung squamous cell carcinoma(45;0.024)		Cytarabine(DB00987)	TGAAAAAGACATCTTTGATTA	0.438								DNA polymerases (catalytic subunits)					12	41					0	0	1	0	0	G	42229122	A	G	42229122	3	3	456	1	0	0	0	0	1	0	0	0	12237	217	8	3	1009	3	POLB	8	42229122	Missense_Mutation	SNP	A	TCGA-S9-A89Z-01A-11D-A36O-08		42229122	104134900	38	36027											
UBR5	51366	broad.mit.edu	37	8	103335639	103335639	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr8:103335639T>C	ENST00000520539.1	-	14	2290	c.1684A>G	c.(1684-1686)Atg>Gtg	p.M562V	UBR5_ENST00000220959.4_Missense_Mutation_p.M562V|UBR5_ENST00000521922.1_Missense_Mutation_p.M556V	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	562					cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			ACTGACTCCATTAAGACACCA	0.363													16	29					0	0	1	0	0	C	103335639	T	C	103335639	3	2	456	1	0	0	0	0	1	0	0	0	16966	1493	52	3	6899	3	UBR5	8	103335639	Missense_Mutation	SNP	T	TCGA-S9-A89Z-01A-11D-A36O-08	61106517	103335639	43028383	39	36028											
RC3H2	54542	broad.mit.edu	37	9	125652610	125652610	+	Silent	SNP	T	T	A			TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr9:125652610T>A	ENST00000373670.1	-	3	1164	c.564A>T	c.(562-564)ggA>ggT	p.G188G	RC3H2_ENST00000478216.1_5'UTR|RC3H2_ENST00000373665.2_Silent_p.G188G|RC3H2_ENST00000357244.2_Silent_p.G188G|RC3H2_ENST00000423239.2_Silent_p.G188G|RC3H2_ENST00000335387.5_Silent_p.G188G|RC3H2_ENST00000471874.2_Silent_p.G188G			Q9HBD1	RC3H2_HUMAN	ring finger and CCCH-type domains 2	188						cell surface|endomembrane system|membrane|membrane fraction|perinuclear region of cytoplasm	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(6)|large_intestine(4)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						AAAACTGGCATCCTCGAGCCC	0.473													4	39					0	0	1	0	0	A	125652610	T	A	125652610	2	1	456	1	0	0	0	0	0	0	0	1	13219	1422	50	4		4	RC3H2	9	125652610	Silent	SNP	T	TCGA-S9-A89Z-01A-11D-A36O-08		125652610	15560821	40	36029											
PRRX2	51450	broad.mit.edu	37	9	132482974	132482974	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr9:132482974G>A	ENST00000372469.4	+	3	774	c.547G>A	c.(547-549)Gcc>Acc	p.A183T		NM_016307.3	NP_057391.1	Q99811	PRRX2_HUMAN	paired related homeobox 2	183						nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			lung(2)|pancreas(1)	3		Ovarian(14;0.00556)				CCAGGAGGCCGCCATCGAGCA	0.647													28	60					0	0	1	0	0	A	132482974	G	A	132482974	3	1	456	1	0	0	0	0	1	0	0	0	12663	1087	38	1	557	1	PRRX2	9	132482974	Missense_Mutation	SNP	G	TCGA-S9-A89Z-01A-11D-A36O-08	6830364	132482974	8730457	41	36030											
ANKRD30A	91074	broad.mit.edu	37	10	37431045	37431045	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr10:37431045C>T	ENST00000374660.1	+	7	1151	c.1052C>T	c.(1051-1053)aCg>aTg	p.T351M	ANKRD30A_ENST00000602533.1_Missense_Mutation_p.T351M|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.T351M			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	407						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						GAGAAATTTACGTGGGCAGCA	0.423													43	51					0	0	1	0	0	T	37431045	C	T	37431045	3	4	456	1	0	0	0	0	1	0	0	0	654	536	19	1	1078	1	ANKRD30A	10	37431045	Missense_Mutation	SNP	C	TCGA-S9-A89Z-01A-11D-A36O-08		37431045	98103702	42	36031											
OPN4	94233	broad.mit.edu	37	10	88418319	88418319	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr10:88418319G>A	ENST00000372071.2	+	5	763	c.536G>A	c.(535-537)cGc>cAc	p.R179H	OPN4_ENST00000241891.5_Missense_Mutation_p.R168H	NM_001030015.2	NP_001025186.1	Q9UHM6	OPN4_HUMAN	opsin 4	168					phototransduction|protein-chromophore linkage|regulation of circadian rhythm|rhythmic process|visual perception	integral to membrane|plasma membrane	11-cis retinal binding|G-protein coupled photoreceptor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(5)|ovary(3)	18						GCCCTGGACCGCTACCTGGTA	0.617													15	26					0	0	1	0	0	A	88418319	G	A	88418319	3	1	456	1	0	0	0	0	1	0	0	0	10930	1087	38	1	554	1	OPN4	10	88418319	Missense_Mutation	SNP	G	TCGA-S9-A89Z-01A-11D-A36O-08	50987274	88418319	47116428	43	36032											
NT5C2	22978	broad.mit.edu	37	10	104934622	104934622	+	Missense_Mutation	SNP	A	A	T			TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr10:104934622A>T	ENST00000343289.5	-	2	181	c.94T>A	c.(94-96)Tat>Aat	p.Y32N	NT5C2_ENST00000470299.1_Missense_Mutation_p.Y32N|NT5C2_ENST00000404739.3_Missense_Mutation_p.Y32N|NT5C2_ENST00000369857.4_Intron	NM_001134373.2|NM_012229.4	NP_001127845.1|NP_036361.1	P49902	5NTC_HUMAN	5'-nucleotidase, cytosolic II	32					purine base metabolic process|purine nucleotide catabolic process	cytosol	5'-nucleotidase activity|metal ion binding|nucleotide binding|protein binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|urinary_tract(1)	16		all_hematologic(284;0.176)|Colorectal(252;0.178)		Epithelial(162;1.33e-08)|all cancers(201;1.04e-07)|BRCA - Breast invasive adenocarcinoma(275;0.159)	Adenosine triphosphate(DB00171)|Ribavirin(DB00811)	TACCGATGATAGGCTTCTCGA	0.383													28	82					0	0	1	0	0	T	104934622	A	T	104934622	3	4	456	1	0	0	0	0	1	0	0	0	10735	420	15	5	1659	5	NT5C2	10	104934622	Missense_Mutation	SNP	A	TCGA-S9-A89Z-01A-11D-A36O-08	16516303	104934622	30600125	44	36033											
OR4C15	81309	broad.mit.edu	37	11	55322062	55322062	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr11:55322062A>G	ENST00000314644.2	+	1	280	c.280A>G	c.(280-282)Aac>Gac	p.N94D		NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C, member 15	40					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						TGTTGGGGGCAACATGCTAAT	0.438										HNSCC(20;0.049)			12	146					0	0	1	0	0	G	55322062	A	G	55322062	3	3	456	1	0	0	0	0	1	0	0	0	11096	130	5	3	282	3	OR4C15	11	55322062	Missense_Mutation	SNP	A	TCGA-S9-A89Z-01A-11D-A36O-08		55322062	79684454	45	36034											
MTNR1B	4544	broad.mit.edu	37	11	92714787	92714787	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr11:92714787C>T	ENST00000257068.2	+	2	404	c.398C>T	c.(397-399)gCc>gTc	p.A133V		NM_005959.3	NP_005950.1	P49286	MTR1B_HUMAN	melatonin receptor 1B	133					G-protein signaling, coupled to cyclic nucleotide second messenger|glucose homeostasis|regulation of insulin secretion|synaptic transmission	integral to plasma membrane	melatonin receptor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	33		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)			Ramelteon(DB00980)	AATATCACTGCCATCGCCATT	0.597													20	44					0	0	1	0	0	T	92714787	C	T	92714787	3	4	456	1	0	0	0	0	1	0	0	0	10000	739	26	2	404	2	MTNR1B	11	92714787	Missense_Mutation	SNP	C	TCGA-S9-A89Z-01A-11D-A36O-08	37392725	92714787	42291729	46	36035											
DSCAML1	57453	broad.mit.edu	37	11	117310638	117310638	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr11:117310638T>C	ENST00000321322.6	-	22	4058	c.4057A>G	c.(4057-4059)Atc>Gtc	p.I1353V	DSCAML1_ENST00000527706.1_Missense_Mutation_p.I1083V	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1293	Ig-like C2-type 10.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		CCAAAGGAGATGATCTTTGCT	0.557													5	86					0	0	1	0	0	C	117310638	T	C	117310638	3	2	456	1	0	0	0	0	1	0	0	0	4795	1464	51	3	2332	3	DSCAML1	11	117310638	Missense_Mutation	SNP	T	TCGA-S9-A89Z-01A-11D-A36O-08	24595851	117310638	17695878	47	36036											
CHEK1	1111	broad.mit.edu	37	11	125497608	125497608	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr11:125497608A>G	ENST00000534070.1	+	3	427	c.172A>G	c.(172-174)Atc>Gtc	p.I58V	CHEK1_ENST00000278916.3_Missense_Mutation_p.I58V|CHEK1_ENST00000427383.2_Intron|CHEK1_ENST00000438015.1_Missense_Mutation_p.I58V|CHEK1_ENST00000532449.1_Intron|CHEK1_ENST00000524737.1_Missense_Mutation_p.I58V|CHEK1_ENST00000428830.2_Missense_Mutation_p.I58V|CHEK1_ENST00000544373.1_Missense_Mutation_p.I58V	NM_001274.5	NP_001265.2	O14757	CHK1_HUMAN	checkpoint kinase 1	58	Protein kinase.				cellular response to mechanical stimulus|DNA repair|DNA replication|gamete generation|negative regulation of cell proliferation|reciprocal meiotic recombination|regulation of cyclin-dependent protein kinase activity|replicative senescence	condensed nuclear chromosome|microtubule organizing center|nucleoplasm	ATP binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(3)|endometrium(3)|large_intestine(2)|lung(16)|skin(1)|upper_aerodigestive_tract(1)	26	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0748)		AGAGATCTGTATCAATAAAAT	0.363								Other conserved DNA damage response genes					20	30					0	0	1	0	0	G	125497608	A	G	125497608	3	3	456	1	0	0	0	0	1	0	0	0	3356	449	16	3	178	3	CHEK1	11	125497608	Missense_Mutation	SNP	A	TCGA-S9-A89Z-01A-11D-A36O-08	8186970	125497608	9508908	48	36037											
GYS2	2998	broad.mit.edu	37	12	21713428	21713428	+	Splice_Site	SNP	T	T	C			TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr12:21713428T>C	ENST00000261195.2	-	8	1317		c.e8-2			NM_021957.3	NP_068776.2	P54840	GYS2_HUMAN	glycogen synthase 2 (liver)						glucose metabolic process|glycogen biosynthetic process|response to glucose stimulus	cortical actin cytoskeleton|cytosol|ectoplasm|insoluble fraction|soluble fraction	glycogen (starch) synthase activity|protein homodimerization activity			NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(14)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						TTTATGCATCTGATGAGGAAT	0.328													40	56					0	0	1	0	0	C	21713428	T	C	21713428	5	2	456	1	0	0	0	0	0	0	1	0	6954	1594	55	3	1086	3	GYS2	12	21713428	Splice_Site	SNP	T	TCGA-S9-A89Z-01A-11D-A36O-08		21713428	112138467	49	36038											
DNAH10	196385	broad.mit.edu	37	12	124288309	124288309	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr12:124288309A>G	ENST00000409039.3	+	16	2387	c.2362A>G	c.(2362-2364)Aca>Gca	p.T788A		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	788	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TTCCAGGCTGACATTAATAGA	0.413													20	66					0	0	1	0	0	G	124288309	A	G	124288309	3	3	456	1	0	0	0	0	1	0	0	0	4626	275	10	3	2424	3	DNAH10	12	124288309	Missense_Mutation	SNP	A	TCGA-S9-A89Z-01A-11D-A36O-08	102574881	124288309	9563586	50	36039											
FLT3	2322	broad.mit.edu	37	13	28636085	28636085	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr13:28636085T>C	ENST00000380982.4	-	3	368	c.287A>G	c.(286-288)gAc>gGc	p.D96G	FLT3_ENST00000537084.1_Missense_Mutation_p.D96G|FLT3_ENST00000241453.7_Missense_Mutation_p.D96G			P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	96					positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Sorafenib(DB00398)|Sunitinib(DB01268)	CCCTGGGGCGTCGACCAGCAC	0.522			"Mis, O"		"AML, ALL"								4	21					0	0	1	0	0	C	28636085	T	C	28636085	3	2	456	1	0	0	0	0	1	0	0	0	5975	1667	58	3	2782	3	FLT3	13	28636085	Missense_Mutation	SNP	T	TCGA-S9-A89Z-01A-11D-A36O-08		28636085	86533793	51	36040											
ADAM20	8748	broad.mit.edu	37	14	70990039	70990039	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr14:70990039T>C	ENST00000256389.3	-	2	1830	c.1586A>G	c.(1585-1587)aAt>aGt	p.N529S	RP11-486O13.4_ENST00000556646.1_lincRNA	NM_003814.4	NP_003805.3	O43506	ADA20_HUMAN	ADAM metallopeptidase domain 20	479	Cys-rich.				proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(2)	27			KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188)	all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344)		GGATGTCCCATTGCACCACTC	0.433													53	69					0	0	1	0	0	C	70990039	T	C	70990039	3	2	456	1	0	0	0	0	1	0	0	0	241	1493	52	3	748	3	ADAM20	14	70990039	Missense_Mutation	SNP	T	TCGA-S9-A89Z-01A-11D-A36O-08		70990039	36359501	52	36041											
DYNC1H1	1778	broad.mit.edu	37	14	102431051	102431051	+	Missense_Mutation	SNP	G	G	C			TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr14:102431051G>C	ENST00000360184.4	+	1	187	c.23G>C	c.(22-24)gGc>gCc	p.G8A		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	8					cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						GGGGGCGGCGGCGGCGAGGAC	0.682													4	16					0	0	1	0	0	C	102431051	G	C	102431051	3	2	456	1	0	0	0	0	1	0	0	0	4867	1203	42	5	25	5	DYNC1H1	14	102431051	Missense_Mutation	SNP	G	TCGA-S9-A89Z-01A-11D-A36O-08	31441012	102431051	4918489	53	36042											
ACSM2A	123876	broad.mit.edu	37	16	20476907	20476907	+	Missense_Mutation	SNP	T	T	G			TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr16:20476907T>G	ENST00000573854.1	+	3	360	c.246T>G	c.(244-246)aaT>aaG	p.N82K	ACSM2A_ENST00000417235.2_Missense_Mutation_p.N3K|ACSM2A_ENST00000424070.1_Missense_Mutation_p.N82K|ACSM2A_ENST00000575690.1_Missense_Mutation_p.N82K|ACSM2A_ENST00000396104.2_Missense_Mutation_p.N82K|ACSM2A_ENST00000219054.6_Missense_Mutation_p.N82K|ACSM2A_ENST00000575558.1_3'UTR|ACSM2A_ENST00000536134.1_De_novo_Start_InFrame	NM_001010845.2	NP_001010845	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A	82					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						TAATGTGGAATTTCAGAGAAC	0.597													4	44					0	0	1	0	0	G	20476907	T	G	20476907	3	3	456	1	0	0	0	0	1	0	0	0	183	1490	52	4	252	4	ACSM2A	16	20476907	Missense_Mutation	SNP	T	TCGA-S9-A89Z-01A-11D-A36O-08		20476907	69877846	54	36043											
ACSM2B	348158	broad.mit.edu	37	16	20570701	20570701	+	Missense_Mutation	SNP	A	A	C			TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr16:20570701A>C	ENST00000329697.6	-	3	414	c.246T>G	c.(244-246)aaT>aaG	p.N82K	ACSM2B_ENST00000565322.1_Missense_Mutation_p.N3K|ACSM2B_ENST00000414188.2_Missense_Mutation_p.N82K|ACSM2B_ENST00000565232.1_Missense_Mutation_p.N82K|ACSM2B_ENST00000567001.1_Missense_Mutation_p.N82K	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	82					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						GTTCTCTGAAATTCCACATTA	0.577													9	10					0	0	1	0	0	C	20570701	A	C	20570701	3	2	456	1	0	0	0	0	1	0	0	0	184	98	4	4	1535	4	ACSM2B	16	20570701	Missense_Mutation	SNP	A	TCGA-S9-A89Z-01A-11D-A36O-08	93794	20570701	69784052	55	36044											
DCUN1D3	123879	broad.mit.edu	37	16	20871683	20871683	+	Missense_Mutation	SNP	A	A	C			TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr16:20871683A>C	ENST00000324344.4	-	3	725	c.440T>G	c.(439-441)tTt>tGt	p.F147C	DCUN1D3_ENST00000563934.1_Missense_Mutation_p.F147C|ERI2_ENST00000564349.1_Intron	NM_173475.2	NP_775746.1	Q8IWE4	DCNL3_HUMAN	DCN1, defective in cullin neddylation 1, domain containing 3		DCUN1.				negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|positive regulation of apoptosis|response to gamma radiation|response to UV-C	perinuclear region of cytoplasm				NS(2)|breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(2)	14				GBM - Glioblastoma multiforme(48;0.249)		GCCATCAAAAAACTCCTTCCT	0.393													17	27					0	0	1	0	0	C	20871683	A	C	20871683	3	2	456	1	0	0	0	0	1	0	0	0	4338	14	1	5	478	5	DCUN1D3	16	20871683	Missense_Mutation	SNP	A	TCGA-S9-A89Z-01A-11D-A36O-08	300982	20871683	69483070	56	36045											
TP53	7157	broad.mit.edu	37	17	7577049	7577049	+	Frame_Shift_Del	DEL	G	G	-			TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr17:7577049delG	ENST00000420246.2	-	8	1021	c.889delC	c.(889-891)cacfs	p.H297fs	TP53_ENST00000269305.4_Frame_Shift_Del_p.H297fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.H297fs|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Frame_Shift_Del_p.H297fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.H297fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	297	Interaction with HIPK1 (By similarity).		H -> D (in a sporadic cancer; somatic mutation).|H -> N (in a sporadic cancer; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (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.K291fs*48(8)|p.0?(8)|p.H297Y(5)|p.?(2)|p.H297N(1)|p.L265_K305del41(1)|p.G293fs*1(1)|p.H296_S303delHHELPPGS(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)		GGCAGCTCGTGGTGAGGCTCC	0.562		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)			19	28	---	---	---	---						-	7577049	G	-	7577049	7	5	456	1	0	1	0	1	0	0	0	0	16442	1348	47	0	397	0	TP53	17	7577049	Frame_Shift_Del	DEL	G	TCGA-S9-A89Z-01A-11D-A36O-08		7577049	73618161	57	36046											
TP53	7157	broad.mit.edu	37	17	7577120	7577120	+	Missense_Mutation	SNP	C	C	T	rs28934576	by1000genomes	TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr17:7577120C>T	ENST00000420246.2	-	8	950	c.818G>A	c.(817-819)cGt>cAt	p.R273H	TP53_ENST00000445888.2_Missense_Mutation_p.R273H|TP53_ENST00000359597.4_Missense_Mutation_p.R273H|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.R273H|TP53_ENST00000269305.4_Missense_Mutation_p.R273H	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	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).		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.R273H(521)|p.R273L(93)|p.R273P(32)|p.0?(8)|p.?(2)|p.R273fs*32(2)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273S(1)|p.E258fs*71(1)|p.R273fs*72(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.R273fs*33(1)|p.E271_R273delEVR(1)|p.V272_K292del21(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	0.542	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)			7	11					0	0	1	0	0	T	7577120	C	T	7577120	3	4	456	1	0	0	0	0	1	0	0	0	16442	536	19	1	468	1	TP53	17	7577120	Missense_Mutation	SNP	C	TCGA-S9-A89Z-01A-11D-A36O-08	71	7577120	73618090	58	36047											
DHRS7C	201140	broad.mit.edu	37	17	9683322	9683322	+	Missense_Mutation	SNP	G	G	C			TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr17:9683322G>C	ENST00000330255.5	-	3	313	c.301C>G	c.(301-303)Ctc>Gtc	p.L101V	DHRS7C_ENST00000571134.1_Missense_Mutation_p.L100V	NM_001105571.2|NM_001220493.1	NP_001099041.1|NP_001207422.1	A6NNS2	DRS7C_HUMAN	dehydrogenase/reductase (SDR family) member 7C							extracellular region	binding|oxidoreductase activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)	15						ATGTCTGAGAGGTCCAACAGG	0.527													7	20					0	0	1	0	0	C	9683322	G	C	9683322	3	2	456	1	0	0	0	0	1	0	0	0	4525	1000	35	4	653	4	DHRS7C	17	9683322	Missense_Mutation	SNP	G	TCGA-S9-A89Z-01A-11D-A36O-08	2106202	9683322	71511888	59	36048											
DNAH17	8632	broad.mit.edu	37	17	76497400	76497400	+	Nonsense_Mutation	SNP	C	C	T			TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr17:76497400C>T	ENST00000389840.5	-	35	5431	c.5307G>A	c.(5305-5307)tgG>tgA	p.W1769*	DNAH17-AS1_ENST00000598378.1_3'UTR|DNAH17_ENST00000585328.1_Nonsense_Mutation_p.W1778*					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			GCTGGGCCTGCCAGGTGAAGG	0.567													15	24					0	0	1	0	0	T	76497400	C	T	76497400	4	4	456	1	0	0	0	0	0	1	0	0	4629	740	26	2	8227	2	DNAH17	17	76497400	Nonsense_Mutation	SNP	C	TCGA-S9-A89Z-01A-11D-A36O-08	66814078	76497400	4697810	60	36049											
DSG4	147409	broad.mit.edu	37	18	28986302	28986302	+	Silent	SNP	T	T	A			TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr18:28986302T>A	ENST00000359747.4	+	12	1928	c.1899T>A	c.(1897-1899)atT>atA	p.I633I	DSG4_ENST00000308128.4_Silent_p.I633I|RP11-534N16.1_ENST00000578477.1_RNA|RP11-534N16.1_ENST00000581856.1_RNA	NM_001134453.1	NP_001127925.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	633					homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			CAGCAGGGATTGGCATGATGG	0.473													42	113					0	0	1	0	0	A	28986302	T	A	28986302	2	1	456	1	0	0	0	0	0	0	0	1	4805	1800	63	5		5	DSG4	18	28986302	Silent	SNP	T	TCGA-S9-A89Z-01A-11D-A36O-08		28986302	49090946	61	36050											
MUC16	94025	broad.mit.edu	37	19	9088171	9088171	+	Missense_Mutation	SNP	C	C	A			TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr19:9088171C>A	ENST00000397910.4	-	1	3847	c.3644G>T	c.(3643-3645)aGc>aTc	p.S1215I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1215	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AACCAGGGTGCTTTTTCCTAT	0.493													77	133					8.07507e-42	9.03133e-42	1	1	0	A	9088171	C	A	9088171	3	1	456	1	0	0	0	0	1	0	0	0	10021	797	28	4	40215	4	MUC16	19	9088171	Missense_Mutation	SNP	C	TCGA-S9-A89Z-01A-11D-A36O-08		9088171	50040812	62	36051											
OR10H2	26538	broad.mit.edu	37	19	15839146	15839146	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr19:15839146C>T	ENST00000305899.3	+	1	313	c.293C>T	c.(292-294)gCc>gTc	p.A98V		NM_013939.2	NP_039227.1	O60403	O10H2_HUMAN	olfactory receptor, family 10, subfamily H, member 2	98					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A98D(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(1)	27	all_hematologic(1;0.0517)|Acute lymphoblastic leukemia(2;0.074)					CTGGCCTGTGCCAGTCAGATG	0.632													15	41					0	0	1	0	0	T	15839146	C	T	15839146	3	4	456	1	0	0	0	0	1	0	0	0	10954	739	26	2	295	2	OR10H2	19	15839146	Missense_Mutation	SNP	C	TCGA-S9-A89Z-01A-11D-A36O-08	6750975	15839146	43289837	63	36052											
HPN	3249	broad.mit.edu	37	19	35556561	35556561	+	Silent	SNP	C	C	T			TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr19:35556561C>T	ENST00000262626.2	+	11	1851	c.1026C>T	c.(1024-1026)ccC>ccT	p.P342P	HPN_ENST00000597419.1_Silent_p.P184P|HPN_ENST00000392226.1_Silent_p.P342P|HPN-AS1_ENST00000392227.2_RNA	NM_182983.2	NP_892028.1	P05981	HEPS_HUMAN	hepsin	342	Peptidase S1.				cell growth|proteolysis	cytoplasm|integral to plasma membrane	scavenger receptor activity|serine-type endopeptidase activity			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	19	all_lung(56;5.38e-08)|Lung NSC(56;8.61e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)		Coagulation factor VIIa(DB00036)	CTGGCTACCCCGAGGGTGGCA	0.597													27	44					0	0	1	0	0	T	35556561	C	T	35556561	2	4	456	1	0	0	0	0	0	0	0	1	7377	639	23	1		1	HPN	19	35556561	Silent	SNP	C	TCGA-S9-A89Z-01A-11D-A36O-08	19717415	35556561	23572422	64	36053											
SHKBP1	92799	broad.mit.edu	37	19	41096689	41096689	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr19:41096689G>A	ENST00000291842.5	+	17	1871	c.1822G>A	c.(1822-1824)Gcc>Acc	p.A608T	SHKBP1_ENST00000600733.1_Missense_Mutation_p.A583T	NM_138392.3	NP_612401.2	Q8TBC3	SHKB1_HUMAN	SH3KBP1 binding protein 1	608						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(3)|urinary_tract(1)	29			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CTGTGAGCTGGCCCCGCCGGC	0.657													34	38					0	0	1	0	0	A	41096689	G	A	41096689	3	1	456	1	0	0	0	0	1	0	0	0	14339	1203	42	2	1888	2	SHKBP1	19	41096689	Missense_Mutation	SNP	G	TCGA-S9-A89Z-01A-11D-A36O-08	5540128	41096689	18032294	65	36054											
PTPRH	5794	broad.mit.edu	37	19	55716930	55716930	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr19:55716930T>C	ENST00000376350.3	-	4	405	c.383A>G	c.(382-384)gAg>gGg	p.E128G	PTPRH_ENST00000263434.5_Intron|PTPRH_ENST00000588559.1_5'UTR	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	128	Fibronectin type-III 2.				apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		GGTCTGAGCCTCCACTCTCAG	0.572													16	32					0	0	1	0	0	C	55716930	T	C	55716930	3	2	456	1	0	0	0	0	1	0	0	0	12855	1551	54	3	3032	3	PTPRH	19	55716930	Missense_Mutation	SNP	T	TCGA-S9-A89Z-01A-11D-A36O-08	14620241	55716930	3412053	66	36055											
C20orf144	128864	broad.mit.edu	37	20	32251489	32251489	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr20:32251489T>C	ENST00000375222.3	+	2	340	c.278T>C	c.(277-279)aTg>aCg	p.M93T	NECAB3_ENST00000375238.4_Intron|NECAB3_ENST00000246190.6_Intron	NM_080825.3	NP_543015.1	Q9BQM9	CT144_HUMAN	chromosome 20 open reading frame 144	93										lung(1)	1						GAGCCGAGGATGCCGGTACTG	0.746													3	2					0	0	1	0	0	C	32251489	T	C	32251489	3	2	456	1	0	0	0	0	1	0	0	0	2104	1464	51	3	284	3	C20orf144	20	32251489	Missense_Mutation	SNP	T	TCGA-S9-A89Z-01A-11D-A36O-08		32251489	30774031	67	36056											
HNF4A	3172	broad.mit.edu	37	20	43052756	43052756	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr20:43052756C>T	ENST00000316099.4	+	8	1080	c.991C>T	c.(991-993)Cgt>Tgt	p.R331C	HNF4A_ENST00000457232.1_Missense_Mutation_p.R309C|HNF4A_ENST00000609795.1_Missense_Mutation_p.R309C|HNF4A_ENST00000415691.2_Missense_Mutation_p.R331C|HNF4A_ENST00000443598.2_Missense_Mutation_p.R331C|HNF4A_ENST00000316673.4_Missense_Mutation_p.R309C	NM_000457.4|NM_001258355.1|NM_178849.2	NP_000448.3|NP_001245284.1|NP_849180.1	P41235	HNF4A_HUMAN	hepatocyte nuclear factor 4, alpha						blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process	cytoplasm	activating transcription factor binding|protein homodimerization activity|receptor binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding	p.R331G(2)|p.R309G(1)		endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	34		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			GTATGACTCGCGTGGCCGCTT	0.592													7	10					0	0	1	0	0	T	43052756	C	T	43052756	3	4	456	1	0	0	0	0	1	0	0	0	7294	768	27	1	1074	1	HNF4A	20	43052756	Missense_Mutation	SNP	C	TCGA-S9-A89Z-01A-11D-A36O-08	10801267	43052756	19972764	68	36057											
C21orf33	8209	broad.mit.edu	37	21	45553593	45553593	+	Frame_Shift_Del	DEL	G	G	-			TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr21:45553593delG	ENST00000291577.6	+	1	107	c.14delG	c.(13-15)aggfs	p.R5fs	C21orf33_ENST00000348499.5_Frame_Shift_Del_p.R5fs|C21orf33_ENST00000493883.1_3'UTR|C21orf33_ENST00000427803.2_Frame_Shift_Del_p.R5fs	NM_004649.6	NP_004640	P30042	ES1_HUMAN	chromosome 21 open reading frame 33	5						mitochondrion				NS(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	8				STAD - Stomach adenocarcinoma(101;0.168)|Colorectal(79;0.191)		GCGGCTGTGAGGGTCCTGGTG	0.687													2	4	---	---	---	---						-	45553593	G	-	45553593	7	5	456	1	0	1	0	1	0	0	0	0	2139	1000	35	0	16	0	C21orf33	21	45553593	Frame_Shift_Del	DEL	G	TCGA-S9-A89Z-01A-11D-A36O-08		45553593	2576302	69	36058											
EDA2R	60401	broad.mit.edu	37	X	65835830	65835830	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chrX:65835830T>C	ENST00000451436.2	-	2	98	c.17A>G	c.(16-18)aAt>aGt	p.N6S	EDA2R_ENST00000450752.1_Silent_p.Q11Q|EDA2R_ENST00000396050.1_Silent_p.Q11Q|EDA2R_ENST00000456230.2_Silent_p.Q11Q|EDA2R_ENST00000253392.5_Silent_p.Q11Q|EDA2R_ENST00000374719.3_Silent_p.Q11Q			Q9HAV5	TNR27_HUMAN	ectodysplasin A2 receptor	0					cell differentiation|embryo development|epidermis development|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity	integral to plasma membrane	tumor necrosis factor receptor activity			breast(1)|endometrium(2)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	13						ACCGTCCCCATTGGTCCCAGT	0.483													14	4					0	0	1	0	0	C	65835830	T	C	65835830	3	2	456	1	0	0	0	0	1	0	0	0	4930	1490	52	3	880	3	EDA2R	23	65835830	Missense_Mutation	SNP	T	TCGA-S9-A89Z-01A-11D-A36O-08		65835830	89434730	70	36059											
MKNK1	8569	broad.mit.edu	37	1	47024399	47024399	+	Missense_Mutation	SNP	C	C	T	rs147526106		TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr1:47024399C>T	ENST00000371946.4	-	14	1409	c.1246G>A	c.(1246-1248)Gaa>Aaa	p.E416K	MKNK1-AS1_ENST00000602433.1_RNA|MKNK1_ENST00000371944.4_Missense_Mutation_p.E280K|MKNK1_ENST00000371945.4_Missense_Mutation_p.E375K|MKNK1_ENST00000428112.2_3'UTR|MKNK1_ENST00000341183.5_3'UTR	NM_003684.5	NP_003675.2	Q9BUB5	MKNK1_HUMAN	MAP kinase interacting serine/threonine kinase 1	416					intracellular protein kinase cascade|peptidyl-serine phosphorylation|regulation of translation	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	13	Acute lymphoblastic leukemia(166;0.155)					TCGTTCTCTTCGTGCTGAGAT	0.602													10	55					0	0	1	0	0	T	47024399	C	T	47024399	3	4	457	1	0	0	0	0	1	0	0	0	9652	893	31	1	155	1	MKNK1	1	47024399	Missense_Mutation	SNP	C	TCGA-TM-A7C3-01A-11D-A32B-08		47024399	202226222	1	36060											
RAVER2	55225	broad.mit.edu	37	1	65273098	65273098	+	Missense_Mutation	SNP	C	C	G			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr1:65273098C>G	ENST00000294428.3	+	9	1699	c.1621C>G	c.(1621-1623)Ctg>Gtg	p.L541V	RAVER2_ENST00000371072.4_Missense_Mutation_p.L528V|RAVER2_ENST00000430964.2_Intron			Q9HCJ3	RAVR2_HUMAN	ribonucleoprotein, PTB-binding 2	541						cytoplasm|nucleus	nucleotide binding|RNA binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	24						TGGAAGCTTGCTGGTGGGACA	0.493													4	34					0	0	1	0	0	G	65273098	C	G	65273098	3	3	457	1	0	0	0	0	1	0	0	0	13147	796	28	4	1616	4	RAVER2	1	65273098	Missense_Mutation	SNP	C	TCGA-TM-A7C3-01A-11D-A32B-08	18248699	65273098	183977523	2	36061											
C1orf173	127254	broad.mit.edu	37	1	75038691	75038691	+	Silent	SNP	C	C	T			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr1:75038691C>T	ENST00000326665.5	-	14	2921	c.2703G>A	c.(2701-2703)aaG>aaA	p.K901K	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	901	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						CAAGCACTGCCTTCTCTAAAC	0.527													7	214					0	0	1	0	0	T	75038691	C	T	75038691	2	4	457	1	0	0	0	0	0	0	0	1	2027	680	24	2		2	C1orf173	1	75038691	Silent	SNP	C	TCGA-TM-A7C3-01A-11D-A32B-08	9765593	75038691	174211930	3	36062											
FLG	2312	broad.mit.edu	37	1	152281402	152281402	+	Missense_Mutation	SNP	C	C	T	rs150720370		TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr1:152281402C>T	ENST00000368799.1	-	3	5995	c.5960G>A	c.(5959-5961)cGt>cAt	p.R1987H	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1987	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.R1987H(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGCCTGTCCACGAGAGGAAGA	0.572									Ichthyosis				212	288					0	0	1	0	0	T	152281402	C	T	152281402	3	4	457	1	0	0	0	0	1	0	0	0	5955	536	19	1	6229	1	FLG	1	152281402	Missense_Mutation	SNP	C	TCGA-TM-A7C3-01A-11D-A32B-08	77242711	152281402	96969219	4	36063											
EFNA3	1944	broad.mit.edu	37	1	155058634	155058634	+	Missense_Mutation	SNP	C	C	T	rs143760648		TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr1:155058634C>T	ENST00000368408.3	+	4	609	c.539C>T	c.(538-540)aCt>aTt	p.T180I	EFNA3_ENST00000498667.1_3'UTR|EFNA3_ENST00000418360.2_Intron|EFNA3_ENST00000556931.1_Missense_Mutation_p.T175I|EFNA3_ENST00000505139.1_Missense_Mutation_p.T175I	NM_004952.4	NP_004943.1	P52797	EFNA3_HUMAN	ephrin-A3	180					cell-cell signaling	anchored to membrane|integral to plasma membrane	ephrin receptor binding|transmembrane-ephrin receptor activity			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(2)	5	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		all cancers(21;5.67e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000284)|LUSC - Lung squamous cell carcinoma(543;0.193)			CCGGTCCCCACTCTCCCCCAG	0.682											OREG0013850	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	19					0	0	1	0	0	T	155058634	C	T	155058634	3	4	457	1	0	0	0	0	1	0	0	0	4978	565	20	2	553	2	EFNA3	1	155058634	Missense_Mutation	SNP	C	TCGA-TM-A7C3-01A-11D-A32B-08	2777232	155058634	94191987	5	36064											
ARHGEF2	9181	broad.mit.edu	37	1	155935533	155935533	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr1:155935533G>A	ENST00000462460.2	-	9	748	c.494C>T	c.(493-495)cCa>cTa	p.P165L	ARHGEF2_ENST00000368316.1_Missense_Mutation_p.P93L|ARHGEF2_ENST00000361247.4_Missense_Mutation_p.P120L|ARHGEF2_ENST00000477754.2_Intron|ARHGEF2_ENST00000368315.4_Missense_Mutation_p.P121L|ARHGEF2_ENST00000313695.7_Missense_Mutation_p.P93L|ARHGEF2_ENST00000313667.4_Missense_Mutation_p.P120L			Q92974	ARHG2_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 2						actin filament organization|apoptosis|cell division|cell morphogenesis|induction of apoptosis by extracellular signals|intracellular protein transport|mitosis|negative regulation of microtubule depolymerization|nerve growth factor receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|regulation of cell proliferation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|Golgi apparatus|microtubule|ruffle membrane|spindle|tight junction	microtubule binding|Rac GTPase binding|Rac guanyl-nucleotide exchange factor activity|zinc ion binding			breast(4)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|skin(2)	40	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					GGCCGAGCTTGGCCGCTCCCG	0.622													13	29					0	0	1	0	0	A	155935533	G	A	155935533	3	1	457	1	0	0	0	0	1	0	0	0	900	1348	47	2	2673	2	ARHGEF2	1	155935533	Missense_Mutation	SNP	G	TCGA-TM-A7C3-01A-11D-A32B-08	876899	155935533	93315088	6	36065											
SOAT1	6646	broad.mit.edu	37	1	179319441	179319441	+	Missense_Mutation	SNP	A	A	G			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr1:179319441A>G	ENST00000367619.3	+	14	1468	c.1325A>G	c.(1324-1326)aAg>aGg	p.K442R	SOAT1_ENST00000539888.1_Missense_Mutation_p.K377R|SOAT1_ENST00000535686.1_Missense_Mutation_p.K178R|SOAT1_ENST00000540564.1_Missense_Mutation_p.K384R	NM_003101.5	NP_003092.4	P35610	SOAT1_HUMAN	sterol O-acyltransferase 1	442					cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|cholesterol storage|macrophage derived foam cell differentiation|positive regulation of amyloid precursor protein biosynthetic process|very-low-density lipoprotein particle assembly	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol binding|cholesterol O-acyltransferase activity|fatty-acyl-CoA binding			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|stomach(1)	20					Ezetimibe(DB00973)|Hesperetin(DB01094)	TTTTTCTCCAAGAGATTCAAA	0.353													21	30					0	0	1	0	0	G	179319441	A	G	179319441	3	3	457	1	0	0	0	0	1	0	0	0	14964	72	3	3	1375	3	SOAT1	1	179319441	Missense_Mutation	SNP	A	TCGA-TM-A7C3-01A-11D-A32B-08	23383908	179319441	69931180	7	36066											
USH2A	7399	broad.mit.edu	37	1	215808006	215808006	+	Missense_Mutation	SNP	C	C	T			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr1:215808006C>T	ENST00000366943.2	-	70	15478	c.15092G>A	c.(15091-15093)cGg>cAg	p.R5031Q	USH2A_ENST00000307340.3_Missense_Mutation_p.R5031Q			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	5031			R -> W.		maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GCTTTTGCTCCGCGATCCCTT	0.448										HNSCC(13;0.011)			32	60					0	0	1	0	0	T	215808006	C	T	215808006	3	4	457	1	0	0	0	0	1	0	0	0	17096	652	23	1	528	1	USH2A	1	215808006	Missense_Mutation	SNP	C	TCGA-TM-A7C3-01A-11D-A32B-08	36488565	215808006	33442615	8	36067											
OR2T4	127074	broad.mit.edu	37	1	248525695	248525695	+	Silent	SNP	C	C	A			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr1:248525695C>A	ENST00000366475.1	+	1	813	c.813C>A	c.(811-813)gcC>gcA	p.A271A		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	271					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			AGGCCTTTGCCACCTGCTCCT	0.547													37	51					1.49673e-21	1.57988e-21	1	1	0	A	248525695	C	A	248525695	2	1	457	1	0	0	0	0	0	0	0	1	11075	581	21	5		5	OR2T4	1	248525695	Silent	SNP	C	TCGA-TM-A7C3-01A-11D-A32B-08	32717689	248525695	724926	9	36068											
CPSF3	51692	broad.mit.edu	37	2	9574027	9574027	+	Missense_Mutation	SNP	C	C	A			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr2:9574027C>A	ENST00000460593.1	+	6	1574	c.436C>A	c.(436-438)Caa>Aaa	p.Q146K	CPSF3_ENST00000238112.3_Missense_Mutation_p.Q183K			Q9UKF6	CPSF3_HUMAN	cleavage and polyadenylation specific factor 3, 73kDa	183					histone mRNA 3'-end processing|mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex|ribonucleoprotein complex	5'-3' exonuclease activity|endoribonuclease activity|metal ion binding|protein binding|RNA binding			NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)	all_cancers(51;2.39e-25)|all_epithelial(98;8.75e-19)|Lung NSC(108;2.38e-06)|Ovarian(717;0.0308)		all cancers(51;2.2e-40)|Epithelial(75;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(76;4.35e-21)|STAD - Stomach adenocarcinoma(1183;0.00644)		TTTCTCAAGACAAGAAGATAG	0.308													27	43					8.58068e-18	8.95786e-18	1	1	0	A	9574027	C	A	9574027	3	1	457	1	0	0	0	0	1	0	0	0	3849	479	17	5	569	5	CPSF3	2	9574027	Missense_Mutation	SNP	C	TCGA-TM-A7C3-01A-11D-A32B-08		9574027	233625346	10	36069											
SCN3A	6328	broad.mit.edu	37	2	165997166	165997166	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr2:165997166G>A	ENST00000360093.3	-	13	2505	c.2014C>T	c.(2014-2016)Cca>Tca	p.P672S	SCN3A_ENST00000283254.7_Missense_Mutation_p.P672S|SCN3A_ENST00000409101.3_Intron	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	672						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	ATCACCTCTGGGGGAAGTTGT	0.473													27	31					0	0	1	0	0	A	165997166	G	A	165997166	3	1	457	1	0	0	0	0	1	0	0	0	13972	1232	43	2	4052	2	SCN3A	2	165997166	Missense_Mutation	SNP	G	TCGA-TM-A7C3-01A-11D-A32B-08	156423139	165997166	77202207	11	36070											
TTLL4	9654	broad.mit.edu	37	2	219602960	219602960	+	Silent	SNP	G	G	A			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr2:219602960G>A	ENST00000392102.1	+	3	901	c.561G>A	c.(559-561)gcG>gcA	p.A187A	TTLL4_ENST00000258398.4_Silent_p.A187A|TTLL4_ENST00000442769.1_Silent_p.A187A|TTLL4_ENST00000457313.1_Silent_p.A22A	NM_014640.4	NP_055455.3	Q14679	TTLL4_HUMAN	tubulin tyrosine ligase-like family, member 4	187					protein polyglutamylation	cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity			endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	39		Renal(207;0.0915)		Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101)		GCTTGGCAGCGGCTGGGGAAA	0.542													47	55					0	0	1	0	0	A	219602960	G	A	219602960	2	1	457	1	0	0	0	0	0	0	0	1	16791	1103	39	1		1	TTLL4	2	219602960	Silent	SNP	G	TCGA-TM-A7C3-01A-11D-A32B-08	53605794	219602960	23596413	12	36071											
COL6A3	1293	broad.mit.edu	37	2	238280552	238280552	+	Missense_Mutation	SNP	C	C	T			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr2:238280552C>T	ENST00000295550.4	-	9	4560	c.4108G>A	c.(4108-4110)Gcc>Acc	p.A1370T	COL6A3_ENST00000347401.3_Missense_Mutation_p.A1169T|COL6A3_ENST00000346358.4_Missense_Mutation_p.A1170T|COL6A3_ENST00000353578.4_Missense_Mutation_p.A1164T|COL6A3_ENST00000392004.3_Missense_Mutation_p.A1164T|COL6A3_ENST00000409809.1_Missense_Mutation_p.A1164T|COL6A3_ENST00000472056.1_Missense_Mutation_p.A763T|COL6A3_ENST00000392003.2_Missense_Mutation_p.A963T	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1370	Nonhelical region.|VWFA 7.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GCGTTCCTGGCGATCGTGAAA	0.612													5	43					0	0	1	0	0	T	238280552	C	T	238280552	3	4	457	1	0	0	0	0	1	0	0	0	3724	768	27	1	5616	1	COL6A3	2	238280552	Missense_Mutation	SNP	C	TCGA-TM-A7C3-01A-11D-A32B-08	18677592	238280552	4918821	13	36072											
CADPS	8618	broad.mit.edu	37	3	62463981	62463981	+	Missense_Mutation	SNP	C	C	T			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr3:62463981C>T	ENST00000383710.4	-	23	3633	c.3284G>A	c.(3283-3285)cGg>cAg	p.R1095Q	CADPS_ENST00000283269.9_Missense_Mutation_p.R1056Q|CADPS_ENST00000357948.3_Missense_Mutation_p.R1016Q	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	1095	Interaction with DRD2.|MHD1.				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		CAACTTCAGCCGTTGTTCCAG	0.502													14	78					0	0	1	0	0	T	62463981	C	T	62463981	3	4	457	1	0	0	0	0	1	0	0	0	2588	652	23	1	809	1	CADPS	3	62463981	Missense_Mutation	SNP	C	TCGA-TM-A7C3-01A-11D-A32B-08		62463981	135558449	14	36073											
DGKG	1608	broad.mit.edu	37	3	186024718	186024718	+	Missense_Mutation	SNP	C	C	T			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr3:186024718C>T	ENST00000265022.3	-	3	655	c.116G>A	c.(115-117)gGg>gAg	p.G39E	DGKG_ENST00000344484.4_Missense_Mutation_p.G39E|DGKG_ENST00000382164.4_Missense_Mutation_p.G39E|DGKG_ENST00000544847.1_Missense_Mutation_p.G39E	NM_001080744.1|NM_001080745.1|NM_001346.2	NP_001074213.1|NP_001074214.1|NP_001337.2	P49619	DGKG_HUMAN	diacylglycerol kinase, gamma 90kDa	39					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	42	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	Phosphatidylserine(DB00144)	TTTGAGGCTCCCACCCTCATT	0.383													8	42					0	0	1	0	0	T	186024718	C	T	186024718	3	4	457	1	0	0	0	0	1	0	0	0	4497	623	22	2	2351	2	DGKG	3	186024718	Missense_Mutation	SNP	C	TCGA-TM-A7C3-01A-11D-A32B-08	123560737	186024718	11997712	15	36074											
PRMT10	90826	broad.mit.edu	37	4	148605024	148605024	+	Nonsense_Mutation	SNP	G	G	A			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr4:148605024G>A	ENST00000322396.6	-	1	357	c.115C>T	c.(115-117)Cag>Tag	p.Q39*	PRMT10_ENST00000541232.1_5'UTR	NM_138364.2	NP_612373.2	Q6P2P2	ANM10_HUMAN	protein arginine methyltransferase 10 (putative)	39						cytoplasm	binding|protein methyltransferase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28						CCGAAGTCCTGGACGCCCAGA	0.672													15	52					0	0	1	0	0	A	148605024	G	A	148605024	4	1	457	1	0	0	0	0	0	1	0	0	12588	1357	47	2	2470	2	PRMT10	4	148605024	Nonsense_Mutation	SNP	G	TCGA-TM-A7C3-01A-11D-A32B-08		148605024	42549252	16	36075											
SLC9A3	6550	broad.mit.edu	37	5	488443	488443	+	Silent	SNP	G	G	A			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr5:488443G>A	ENST00000264938.3	-	3	672	c.663C>T	c.(661-663)gaC>gaT	p.D221D	SLC9A3_ENST00000514375.1_Silent_p.D221D	NM_004174.2	NP_004165.2	P48764	SL9A3_HUMAN	solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3	221						cell surface|integral to membrane	sodium:hydrogen antiporter activity			NS(2)|biliary_tract(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(16)|prostate(3)|skin(2)|urinary_tract(1)	37			Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			CGGTGACTGCGTCGTTCAGCA	0.662													13	57					0	0	1	0	0	A	488443	G	A	488443	2	1	457	1	0	0	0	0	0	0	0	1	14768	1136	40	1		1	SLC9A3	5	488443	Silent	SNP	G	TCGA-TM-A7C3-01A-11D-A32B-08		488443	180426817	17	36076											
NIPBL	25836	broad.mit.edu	37	5	37000657	37000657	+	Missense_Mutation	SNP	C	C	T			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr5:37000657C>T	ENST00000282516.8	+	12	3986	c.3487C>T	c.(3487-3489)Ccc>Tcc	p.P1163S	NIPBL_ENST00000448238.2_Missense_Mutation_p.P1163S	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	1163					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			TTCTCCTCCTCCCAGCCTTAG	0.393													20	51					0	0	1	0	0	T	37000657	C	T	37000657	3	4	457	1	0	0	0	0	1	0	0	0	10475	855	30	2	3529	2	NIPBL	5	37000657	Missense_Mutation	SNP	C	TCGA-TM-A7C3-01A-11D-A32B-08	36512214	37000657	143914603	18	36077											
PCDHGA2	56113	broad.mit.edu	37	5	140719294	140719294	+	Silent	SNP	G	G	A			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr5:140719294G>A	ENST00000394576.2	+	1	756	c.756G>A	c.(754-756)ccG>ccA	p.P252P	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1														breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TAAGCATTCCGGAGAATACGC	0.552													34	80					0	0	1	0	0	A	140719294	G	A	140719294	2	1	457	1	0	0	0	0	0	0	0	1	11601	1103	39	1		1	PCDHGA2	5	140719294	Silent	SNP	G	TCGA-TM-A7C3-01A-11D-A32B-08	103718637	140719294	40195966	19	36078											
PCDHGA5	56110	broad.mit.edu	37	5	140744172	140744172	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr5:140744172G>A	ENST00000518069.1	+	1	275	c.275G>A	c.(274-276)cGg>cAg	p.R92Q	PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1														endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGATAGACCGGGAGGAGCTC	0.537													19	87					0	0	1	0	0	A	140744172	G	A	140744172	3	1	457	1	0	0	0	0	1	0	0	0	11604	1116	39	1	277	1	PCDHGA5	5	140744172	Missense_Mutation	SNP	G	TCGA-TM-A7C3-01A-11D-A32B-08	24878	140744172	40171088	20	36079											
RANBP17	64901	broad.mit.edu	37	5	170692729	170692729	+	Missense_Mutation	SNP	G	G	A	rs141341938	byFrequency	TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr5:170692729G>A	ENST00000523189.1	+	25	2985	c.2821G>A	c.(2821-2823)Gtc>Atc	p.V941I	RANBP17_ENST00000521759.1_3'UTR	NM_022897.3	NP_075048.1	Q9H2T7	RBP17_HUMAN	RAN binding protein 17	941					mRNA transport|protein import into nucleus|transmembrane transport	cytoplasm|nuclear pore	GTP binding|protein transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	50	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			AGACTACATCGTCACCTACCT	0.418			T	TRD@	ALL								24	97					0	0	1	0	0	A	170692729	G	A	170692729	3	1	457	1	0	0	0	0	1	0	0	0	13079	1145	40	1	2919	1	RANBP17	5	170692729	Missense_Mutation	SNP	G	TCGA-TM-A7C3-01A-11D-A32B-08	29948557	170692729	10222531	21	36080											
RIMS1	22999	broad.mit.edu	37	6	72889437	72889437	+	Nonsense_Mutation	SNP	C	C	T			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr6:72889437C>T	ENST00000264839.7	+	5	631	c.631C>T	c.(631-633)Cga>Tga	p.R211*	RIMS1_ENST00000348717.5_Nonsense_Mutation_p.R211*|RIMS1_ENST00000517960.1_Nonsense_Mutation_p.R211*|RIMS1_ENST00000518273.1_Nonsense_Mutation_p.R211*|RIMS1_ENST00000520567.1_Nonsense_Mutation_p.R211*|RIMS1_ENST00000491071.2_Nonsense_Mutation_p.R211*|RIMS1_ENST00000522291.1_Nonsense_Mutation_p.R211*|RIMS1_ENST00000521978.1_Nonsense_Mutation_p.R211*			Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	211					calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				AAAGAAAGCACGACTCCAAGA	0.567													19	39					0	0	1	0	0	T	72889437	C	T	72889437	4	4	457	1	0	0	0	0	0	1	0	0	13419	528	19	1	649	1	RIMS1	6	72889437	Nonsense_Mutation	SNP	C	TCGA-TM-A7C3-01A-11D-A32B-08		72889437	98225630	22	36081											
UTRN	7402	broad.mit.edu	37	6	145156985	145156985	+	Silent	SNP	G	G	A			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr6:145156985G>A	ENST00000367545.3	+	69	9735	c.9735G>A	c.(9733-9735)ccG>ccA	p.P3245P	UTRN_ENST00000367526.4_Silent_p.P800P	NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	3245					muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		TGAGCCAGCCGCAGAGCCCAG	0.557													4	157					0	0	1	0	0	A	145156985	G	A	145156985	2	1	457	1	0	0	0	0	0	0	0	1	17163	1074	38	1		1	UTRN	6	145156985	Silent	SNP	G	TCGA-TM-A7C3-01A-11D-A32B-08	72267548	145156985	25958082	23	36082											
CCDC129	223075	broad.mit.edu	37	7	31682624	31682624	+	Missense_Mutation	SNP	C	C	T			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr7:31682624C>T	ENST00000319386.3	+	11	2189	c.1196C>T	c.(1195-1197)cCc>cTc	p.P399L	CCDC129_ENST00000407970.3_Missense_Mutation_p.P547L|CCDC129_ENST00000409210.1_Missense_Mutation_p.P455L|CCDC129_ENST00000451887.2_Missense_Mutation_p.P573L			Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	547										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						CTGCCAATGCCCCATGCTGAG	0.527													31	161					0	0	1	0	0	T	31682624	C	T	31682624	3	4	457	1	0	0	0	0	1	0	0	0	2782	623	22	2	1678	2	CCDC129	7	31682624	Missense_Mutation	SNP	C	TCGA-TM-A7C3-01A-11D-A32B-08		31682624	127456039	24	36083											
NPC1L1	29881	broad.mit.edu	37	7	44560403	44560403	+	Missense_Mutation	SNP	T	T	C			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr7:44560403T>C	ENST00000289547.4	-	14	3152	c.3097A>G	c.(3097-3099)Agc>Ggc	p.S1033G	NPC1L1_ENST00000381160.3_Missense_Mutation_p.S1033G|NPC1L1_ENST00000546276.1_Missense_Mutation_p.S987G	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	1033					cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	ACAGAGGTGCTGTATGCTGCC	0.582													32	69					0	0	1	0	0	C	44560403	T	C	44560403	3	2	457	1	0	0	0	0	1	0	0	0	10618	1580	55	3	1010	3	NPC1L1	7	44560403	Missense_Mutation	SNP	T	TCGA-TM-A7C3-01A-11D-A32B-08	12877779	44560403	114578260	25	36084											
EGFR	1956	broad.mit.edu	37	7	55221822	55221822	+	Missense_Mutation	SNP	C	C	T	rs149840192		TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr7:55221822C>T	ENST00000275493.2	+	7	1043	c.866C>T	c.(865-867)gCc>gTc	p.A289V	EGFR_ENST00000342916.3_Missense_Mutation_p.A289V|EGFR_ENST00000454757.2_Missense_Mutation_p.A236V|EGFR_ENST00000442591.1_Missense_Mutation_p.A289V|EGFR_ENST00000455089.1_Missense_Mutation_p.A244V|EGFR_ENST00000344576.2_Missense_Mutation_p.A289V|EGFR_ENST00000420316.2_Missense_Mutation_p.A289V	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	289					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.A289V(20)|p.A289D(3)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	AGCTTTGGTGCCACCTGCGTG	0.592		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			912	374					0	0	1	0	0	T	55221822	C	T	55221822	3	4	457	1	0	0	0	0	1	0	0	0	4993	739	26	2	892	2	EGFR	7	55221822	Missense_Mutation	SNP	C	TCGA-TM-A7C3-01A-11D-A32B-08	10661419	55221822	103916841	26	36085											
ANKRD7	56311	broad.mit.edu	37	7	117874919	117874919	+	Silent	SNP	G	G	A			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr7:117874919G>A	ENST00000357099.4	+	4	692	c.519G>A	c.(517-519)gcG>gcA	p.A173A	ANKRD7_ENST00000433239.1_Silent_p.A100A|ANKRD7_ENST00000477532.1_3'UTR|ANKRD7_ENST00000265224.4_Silent_p.A153A|ANKRD7_ENST00000417525.1_Silent_p.A100A			Q92527	ANKR7_HUMAN	ankyrin repeat domain 7	153					male gonad development					breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)	29						ATCTTGAAGCGAAAAATAAGG	0.299													5	44					0	0	1	0	0	A	117874919	G	A	117874919	2	1	457	1	0	0	0	0	0	0	0	1	680	1045	37	1		1	ANKRD7	7	117874919	Silent	SNP	G	TCGA-TM-A7C3-01A-11D-A32B-08	62653097	117874919	41263744	27	36086											
GPR37	2861	broad.mit.edu	37	7	124386977	124386977	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr7:124386977G>A	ENST00000303921.2	-	2	2094	c.1444C>T	c.(1444-1446)Cgg>Tgg	p.R482W		NM_005302.3	NP_005293.1	O15354	GPR37_HUMAN	G protein-coupled receptor 37 (endothelin receptor type B-like)	482						endoplasmic reticulum membrane|integral to plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						TGAATCTGCCGTTTATTCCCT	0.428													17	106					0	0	1	0	0	A	124386977	G	A	124386977	3	1	457	1	0	0	0	0	1	0	0	0	6731	1144	40	1	401	1	GPR37	7	124386977	Missense_Mutation	SNP	G	TCGA-TM-A7C3-01A-11D-A32B-08	6512058	124386977	34751686	28	36087											
GRM8	2918	broad.mit.edu	37	7	126409978	126409978	+	Missense_Mutation	SNP	C	C	T			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr7:126409978C>T	ENST00000339582.2	-	7	2106	c.1298G>A	c.(1297-1299)cGa>cAa	p.R433Q	GRM8_ENST00000405249.1_Missense_Mutation_p.R433Q|GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000358373.3_Missense_Mutation_p.R433Q|GRM8_ENST00000444921.2_Missense_Mutation_p.R433Q			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	433					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	GGTACTCATTCGTGGACAAAG	0.403										HNSCC(24;0.065)			50	89					0	0	1	0	0	T	126409978	C	T	126409978	3	4	457	1	0	0	0	0	1	0	0	0	6844	884	31	1	1498	1	GRM8	7	126409978	Missense_Mutation	SNP	C	TCGA-TM-A7C3-01A-11D-A32B-08	2023001	126409978	32728685	29	36088											
DOCK5	80005	broad.mit.edu	37	8	25253206	25253206	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr8:25253206G>A	ENST00000276440.7	+	45	4719	c.4675G>A	c.(4675-4677)Gtc>Atc	p.V1559I		NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	1559	DHR-2.					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		GGACCCGGCCGTCATGGGGGG	0.582													14	12					0	0	1	0	0	A	25253206	G	A	25253206	3	1	457	1	0	0	0	0	1	0	0	0	4717	1145	40	1	4853	1	DOCK5	8	25253206	Missense_Mutation	SNP	G	TCGA-TM-A7C3-01A-11D-A32B-08		25253206	121110816	30	36089											
ANK1	286	broad.mit.edu	37	8	41530255	41530255	+	Silent	SNP	C	C	T	rs138394311	byFrequency	TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr8:41530255C>T	ENST00000396942.1	-	38	4796	c.4713G>A	c.(4711-4713)gcG>gcA	p.A1571A	ANK1_ENST00000347528.4_Silent_p.A1571A|ANK1_ENST00000289734.7_Silent_p.A1571A|ANK1_ENST00000265709.8_Silent_p.A1612A|ANK1_ENST00000352337.4_Silent_p.A1571A|ANK1_ENST00000396945.1_Silent_p.A1571A|ANK1_ENST00000379758.2_Silent_p.A1571A			P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	1571	55 kDa regulatory domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			GCGTGAGGCCCGCAGACCACA	0.602													19	31					0	0	1	0	0	T	41530255	C	T	41530255	2	4	457	1	0	0	0	0	0	0	0	1	616	639	23	1		1	ANK1	8	41530255	Silent	SNP	C	TCGA-TM-A7C3-01A-11D-A32B-08	16277049	41530255	104833767	31	36090											
KCNB2	9312	broad.mit.edu	37	8	73480009	73480009	+	Missense_Mutation	SNP	T	T	C			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr8:73480009T>C	ENST00000523207.1	+	2	628	c.40T>C	c.(40-42)Tca>Cca	p.S14P		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	14					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)			CAGGAAGACTTCAAGGTCGAC	0.502													39	53					0	0	1	0	0	C	73480009	T	C	73480009	3	2	457	1	0	0	0	0	1	0	0	0	8057	1783	62	3	42	3	KCNB2	8	73480009	Missense_Mutation	SNP	T	TCGA-TM-A7C3-01A-11D-A32B-08	31949754	73480009	72884013	32	36091											
MKI67	4288	broad.mit.edu	37	10	129921413	129921413	+	Missense_Mutation	SNP	C	C	T			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr10:129921413C>T	ENST00000368654.3	-	3	488	c.113G>A	c.(112-114)cGt>cAt	p.R38H	MKI67_ENST00000368653.3_Missense_Mutation_p.R38H	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	38	FHA.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				AAGCTGGATACGGATGTCACA	0.348													20	6					0	0	1	0	0	T	129921413	C	T	129921413	3	4	457	1	0	0	0	0	1	0	0	0	9646	536	19	1	9709	1	MKI67	10	129921413	Missense_Mutation	SNP	C	TCGA-TM-A7C3-01A-11D-A32B-08		129921413	5613334	33	36092											
MUC5B	727897	broad.mit.edu	37	11	1271690	1271690	+	Missense_Mutation	SNP	C	C	A			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr11:1271690C>A	ENST00000447027.1	+	31	13647	c.13589C>A	c.(13588-13590)tCc>tAc	p.S4530Y	MUC5B_ENST00000529681.1_Missense_Mutation_p.S4527Y			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4527	23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GCCATCCCCTCCTCCTCCCTG	0.622													33	66					2.66277e-13	2.74959e-13	1	1	0	A	1271690	C	A	1271690	3	1	457	1	0	0	0	0	1	0	0	0	10027	855	30	5	13711	5	MUC5B	11	1271690	Missense_Mutation	SNP	C	TCGA-TM-A7C3-01A-11D-A32B-08		1271690	133734826	34	36093											
OR51T1	401665	broad.mit.edu	37	11	4903844	4903844	+	Missense_Mutation	SNP	G	G	T			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr11:4903844G>T	ENST00000380378.1	+	1	796	c.796G>T	c.(796-798)Gct>Tct	p.A266S	OR51T1_ENST00000322049.1_Missense_Mutation_p.A239S|MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001004759.1	NP_001004759.1	Q8NGJ9	O51T1_HUMAN	olfactory receptor, family 51, subfamily T, member 1	239					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		GCAACAAAAAGCTCTCAGCAC	0.488													7	28					2.0095e-06	2.03088e-06	1	1	0	T	4903844	G	T	4903844	3	4	457	1	0	0	0	0	1	0	0	0	11154	971	34	4	798	4	OR51T1	11	4903844	Missense_Mutation	SNP	G	TCGA-TM-A7C3-01A-11D-A32B-08	3632154	4903844	130102672	35	36094											
MS4A6A	64231	broad.mit.edu	37	11	59949075	59949075	+	Silent	SNP	G	G	A	rs113133013		TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr11:59949075G>A	ENST00000528851.1	-	2	266	c.126C>T	c.(124-126)caC>caT	p.H42H	MS4A6A_ENST00000530839.1_Silent_p.H42H|MS4A6A_ENST00000532169.1_Silent_p.H42H|MS4A6A_ENST00000323961.3_Silent_p.H42H|MS4A6A_ENST00000420732.2_Silent_p.H42H|MS4A6A_ENST00000412309.2_Silent_p.H70H|MS4A6A_ENST00000529054.1_Silent_p.H70H|MS4A6A_ENST00000533023.1_Silent_p.H42H|MS4A6A_ENST00000426738.2_Silent_p.H42H			Q9H2W1	M4A6A_HUMAN	membrane-spanning 4-domains, subfamily A, member 6A	42						integral to membrane	receptor activity	p.H42H(1)		endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TGATTTCTGCGTGTAGATGTT	0.468													21	58					0	0	1	0	0	A	59949075	G	A	59949075	2	1	457	1	0	0	0	0	0	0	0	1	9913	1136	40	1		1	MS4A6A	11	59949075	Silent	SNP	G	TCGA-TM-A7C3-01A-11D-A32B-08	55045231	59949075	75057441	36	36095											
ANO1	55107	broad.mit.edu	37	11	70011580	70011580	+	Missense_Mutation	SNP	C	C	T			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr11:70011580C>T	ENST00000355303.5	+	20	2260	c.1955C>T	c.(1954-1956)gCg>gTg	p.A652V	ANO1_ENST00000530676.1_Missense_Mutation_p.A506V|ANO1_ENST00000531349.1_Missense_Mutation_p.A361V|ANO1_ENST00000398543.2_Missense_Mutation_p.A506V|ANO1_ENST00000538023.1_Missense_Mutation_p.A652V	NM_018043.5	NP_060513.5	Q5XXA6	ANO1_HUMAN	anoctamin 1, calcium activated chloride channel	652					multicellular organismal development	chloride channel complex|cytoplasm|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29						CCACAGTGTGCGCCAGGGGGC	0.607													6	2					0	0	1	0	0	T	70011580	C	T	70011580	3	4	457	1	0	0	0	0	1	0	0	0	689	768	27	1	2033	1	ANO1	11	70011580	Missense_Mutation	SNP	C	TCGA-TM-A7C3-01A-11D-A32B-08	10062505	70011580	64994936	37	36096											
WNK1	65125	broad.mit.edu	37	12	978106	978106	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr12:978106G>A	ENST00000537687.1	+	9	3857	c.3214G>A	c.(3214-3216)Gga>Aga	p.G1072R	WNK1_ENST00000535572.1_Intron|WNK1_ENST00000315939.6_Intron|WNK1_ENST00000530271.2_Missense_Mutation_p.G1157R|WNK1_ENST00000340908.4_Intron|WNK1_ENST00000574564.1_Missense_Mutation_p.G371R	NM_001184985.1|NM_213655.4	NP_001171914.1|NP_998820.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	822					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			CCCTACAGGGGGAGCAGCTGC	0.502													44	167					0	0	1	0	0	A	978106	G	A	978106	3	1	457	1	0	0	0	0	1	0	0	0	17437	1233	43	2	3507	2	WNK1	12	978106	Missense_Mutation	SNP	G	TCGA-TM-A7C3-01A-11D-A32B-08		978106	132873789	38	36097											
TAS2R31	259290	broad.mit.edu	37	12	11183917	11183917	+	Silent	SNP	G	G	A			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr12:11183917G>A	ENST00000390675.2	-	1	89	c.18C>T	c.(16-18)ccC>ccT	p.P6P	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_176885.2	NP_795366.2	P59538	T2R31_HUMAN	taste receptor, type 2, member 31	6					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			kidney(1)|lung(6)	7						AAAAAATGATGGGTATAAAAG	0.403													6	34					0	0	1	0	0	A	11183917	G	A	11183917	2	1	457	1	0	0	0	0	0	0	0	1	15631	1335	47	2		2	TAS2R31	12	11183917	Silent	SNP	G	TCGA-TM-A7C3-01A-11D-A32B-08	10205811	11183917	122667978	39	36098											
GRIN2B	2904	broad.mit.edu	37	12	13717356	13717356	+	Missense_Mutation	SNP	C	C	T			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr12:13717356C>T	ENST00000609686.1	-	13	3025	c.2816G>A	c.(2815-2817)cGc>cAc	p.R939H		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B						response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	CGTGAAGCTGCGGCGGTGCTC	0.542													32	105					0	0	1	0	0	T	13717356	C	T	13717356	3	4	457	1	0	0	0	0	1	0	0	0	6821	768	27	1	1642	1	GRIN2B	12	13717356	Missense_Mutation	SNP	C	TCGA-TM-A7C3-01A-11D-A32B-08	2533439	13717356	120134539	40	36099											
COL2A1	1280	broad.mit.edu	37	12	48377906	48377906	+	Silent	SNP	A	A	G			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr12:48377906A>G	ENST00000380518.3	-	29	2069	c.1905T>C	c.(1903-1905)gaT>gaC	p.D635D	COL2A1_ENST00000337299.6_Silent_p.D566D|COL2A1_ENST00000493991.1_5'UTR	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	635	Triple-helical region.				axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	CTGTCTCACCATCTTTGCCAG	0.592													7	9					0	0	1	0	0	G	48377906	A	G	48377906	2	3	457	1	0	0	0	0	0	0	0	1	3710	214	8	3		3	COL2A1	12	48377906	Silent	SNP	A	TCGA-TM-A7C3-01A-11D-A32B-08	34660550	48377906	85473989	41	36100											
MTUS2	23281	broad.mit.edu	37	13	29599192	29599192	+	Missense_Mutation	SNP	T	T	A			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr13:29599192T>A	ENST00000431530.3	+	1	445	c.387T>A	c.(385-387)gaT>gaA	p.D129E		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	119						cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						GAGGCACAGATAGCCTGCAGA	0.507													7	45					0	0	1	0	0	A	29599192	T	A	29599192	3	1	457	1	0	0	0	0	1	0	0	0	10014	1403	49	4	389	4	MTUS2	13	29599192	Missense_Mutation	SNP	T	TCGA-TM-A7C3-01A-11D-A32B-08		29599192	85570686	42	36101											
IRF9	10379	broad.mit.edu	37	14	24634044	24634044	+	Nonsense_Mutation	SNP	C	C	T			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr14:24634044C>T	ENST00000396864.3	+	7	1158	c.871C>T	c.(871-873)Cag>Tag	p.Q291*	IRF9_ENST00000557894.1_Nonsense_Mutation_p.Q189*|RP11-468E2.4_ENST00000558468.1_3'UTR	NM_006084.4	NP_006075.3	Q00978	IRF9_HUMAN	interferon regulatory factor 9	291					interferon-gamma-mediated signaling pathway|response to virus|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytosol|nucleoplasm	DNA binding|identical protein binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	16				GBM - Glioblastoma multiforme(265;0.00853)		CCTCTTCGTGCAGCGCCTTTG	0.672													20	86					0	0	1	0	0	T	24634044	C	T	24634044	4	4	457	1	0	0	0	0	0	1	0	0	7881	711	25	2	893	2	IRF9	14	24634044	Nonsense_Mutation	SNP	C	TCGA-TM-A7C3-01A-11D-A32B-08		24634044	82715496	43	36102											
AHNAK2	113146	broad.mit.edu	37	14	105418755	105418755	+	Silent	SNP	C	C	T			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr14:105418755C>T	ENST00000333244.5	-	7	3152	c.3033G>A	c.(3031-3033)tcG>tcA	p.S1011S	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1011						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TCCCTGGGGCCGATACCCCGA	0.607													131	146					0	0	1	0	0	T	105418755	C	T	105418755	2	4	457	1	0	0	0	0	0	0	0	1	412	639	23	1		1	AHNAK2	14	105418755	Silent	SNP	C	TCGA-TM-A7C3-01A-11D-A32B-08	80784711	105418755	1930785	44	36103											
AP4E1	23431	broad.mit.edu	37	15	51240332	51240332	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr15:51240332G>A	ENST00000261842.5	+	11	1398	c.1292G>A	c.(1291-1293)gGc>gAc	p.G431D	AP4E1_ENST00000560508.1_Missense_Mutation_p.G356D	NM_001252127.1|NM_007347.4	NP_001239056.1|NP_031373.2	Q9UPM8	AP4E1_HUMAN	adaptor-related protein complex 4, epsilon 1 subunit	431					intracellular protein transport|vesicle-mediated transport	COPI vesicle coat	binding|structural molecule activity			breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(5)|skin(2)	27				all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364)		AATTTGGTCGGCAAAATAGCA	0.338													3	50					0	0	1	0	0	A	51240332	G	A	51240332	3	1	457	1	0	0	0	0	1	0	0	0	748	1203	42	2	1334	2	AP4E1	15	51240332	Missense_Mutation	SNP	G	TCGA-TM-A7C3-01A-11D-A32B-08		51240332	51291060	45	36104											
MNS1	55329	broad.mit.edu	37	15	56721344	56721344	+	Silent	SNP	G	G	A			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr15:56721344G>A	ENST00000260453.3	-	10	1607	c.1443C>T	c.(1441-1443)ttC>ttT	p.F481F	TEX9_ENST00000352903.2_Intron|MNS1_ENST00000566386.1_5'UTR|TEX9_ENST00000537232.1_Intron	NM_018365.2	NP_060835.1	Q8NEH6	MNS1_HUMAN	meiosis-specific nuclear structural 1	481					meiosis					breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|ovary(2)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	20				all cancers(107;0.0196)|GBM - Glioblastoma multiforme(80;0.101)		ATACTTTCCTGAACTCTTCAC	0.323													8	28					0	0	1	0	0	A	56721344	G	A	56721344	2	1	457	1	0	0	0	0	0	0	0	1	9726	1281	45	2		2	MNS1	15	56721344	Silent	SNP	G	TCGA-TM-A7C3-01A-11D-A32B-08	5481012	56721344	45810048	46	36105											
ABCC1	4363	broad.mit.edu	37	16	16150051	16150051	+	Missense_Mutation	SNP	G	G	C	rs72547522		TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr16:16150051G>C	ENST00000399408.2	+	12	1751	c.1576G>C	c.(1576-1578)Gac>Cac	p.D526H	ABCC1_ENST00000351154.5_Missense_Mutation_p.D526H|ABCC1_ENST00000346370.5_Missense_Mutation_p.D526H|ABCC1_ENST00000349029.5_Missense_Mutation_p.D526H|ABCC1_ENST00000399410.3_Missense_Mutation_p.D526H|ABCC1_ENST00000345148.5_Missense_Mutation_p.D526H			P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 1	526	ABC transmembrane type-1 1.				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	GGCATTCAAGGACAAGGTGCT	0.532													22	30					0	0	1	0	0	C	16150051	G	C	16150051	3	2	457	1	0	0	0	0	1	0	0	0	49	1174	41	5	1622	5	ABCC1	16	16150051	Missense_Mutation	SNP	G	TCGA-TM-A7C3-01A-11D-A32B-08		16150051	74204702	47	36106											
FANCA	2175	broad.mit.edu	37	16	89813023	89813023	+	Missense_Mutation	SNP	G	G	A	rs142833057	by1000genomes	TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr16:89813023G>A	ENST00000389301.3	-	35	3512	c.3482C>T	c.(3481-3483)aCg>aTg	p.T1161M	FANCA_ENST00000568369.1_Missense_Mutation_p.T1161M	NM_000135.2	NP_000126.2	O15360	FANCA_HUMAN	Fanconi anemia, complementation group A	1161					DNA repair|protein complex assembly	cytoplasm|nucleoplasm	protein binding	p.T1161M(2)		breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3)	47		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.028)		GGGGCATTTCGTCTGGCACTT	0.567			"D, Mis, N, F, S"			"AML, leukemia"		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				9	38					0	0	1	0	0	A	89813023	G	A	89813023	3	1	457	1	0	0	0	0	1	0	0	0	5695	1145	40	1	921	1	FANCA	16	89813023	Missense_Mutation	SNP	G	TCGA-TM-A7C3-01A-11D-A32B-08	73662972	89813023	541730	48	36107											
CNTROB	116840	broad.mit.edu	37	17	7850971	7850971	+	Silent	SNP	C	C	T			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr17:7850971C>T	ENST00000380262.3	+	14	3001	c.2076C>T	c.(2074-2076)gaC>gaT	p.D692D	CNTROB_ENST00000380255.3_3'UTR|CNTROB_ENST00000565740.1_Silent_p.D692D|CNTROB_ENST00000563694.1_Silent_p.D692D	NM_001037144.5	NP_001032221.1	Q8N137	CNTRB_HUMAN	centrobin, centrosomal BRCA2 interacting protein	692	Pro-rich.|Required for centrosome localization.				centriole replication|centrosome separation|cytokinesis	centriole	protein domain specific binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)	25		Prostate(122;0.173)				CTGGACCTGACGGGGAGGGCC	0.557													50	101					0	0	1	0	0	T	7850971	C	T	7850971	2	4	457	1	0	0	0	0	0	0	0	1	3674	535	19	1		1	CNTROB	17	7850971	Silent	SNP	C	TCGA-TM-A7C3-01A-11D-A32B-08		7850971	73344239	49	36108											
MYH1	4619	broad.mit.edu	37	17	10404812	10404812	+	Missense_Mutation	SNP	C	C	T			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr17:10404812C>T	ENST00000226207.5	-	27	3447	c.3353G>A	c.(3352-3354)cGc>cAc	p.R1118H	RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1118						muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						CTCCTCAATGCGGGCCTGGGA	0.502													18	31					0	0	1	0	0	T	10404812	C	T	10404812	3	4	457	1	0	0	0	0	1	0	0	0	10077	768	27	1	2522	1	MYH1	17	10404812	Missense_Mutation	SNP	C	TCGA-TM-A7C3-01A-11D-A32B-08	2553841	10404812	70790398	50	36109											
SLC13A2	9058	broad.mit.edu	37	17	26817852	26817852	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr17:26817852G>A	ENST00000444914.3	+	4	1069	c.649G>A	c.(649-651)Gtc>Atc	p.V217I	SLC13A2_ENST00000545060.1_Missense_Mutation_p.V125I|SLC13A2_ENST00000314669.5_Missense_Mutation_p.V168I|SLC13A2_ENST00000537681.1_Missense_Mutation_p.V97I	NM_001145975.1	NP_001139447.1	Q13183	S13A2_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2	168						integral to plasma membrane|membrane fraction	low affinity sodium:dicarboxylate symporter activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_lung(13;0.000871)|Lung NSC(42;0.0027)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	Succinic acid(DB00139)	CAGCAGCAACGTCGAGGAGGG	0.597													8	12					0	0	1	0	0	A	26817852	G	A	26817852	3	1	457	1	0	0	0	0	1	0	0	0	14447	1145	40	1	663	1	SLC13A2	17	26817852	Missense_Mutation	SNP	G	TCGA-TM-A7C3-01A-11D-A32B-08	16413040	26817852	54377358	51	36110											
GAS2L2	246176	broad.mit.edu	37	17	34074958	34074958	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr17:34074958G>A	ENST00000254466.6	-	4	769	c.742C>T	c.(742-744)Cgg>Tgg	p.R248W	GAS2L2_ENST00000587565.1_Missense_Mutation_p.R232W	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	248	GAR.				cell cycle arrest	cytoplasm|cytoskeleton				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		ACATGGTTCCGGAGGATCTGA	0.642											OREG0024328	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	24					0	0	1	0	0	A	34074958	G	A	34074958	3	1	457	1	0	0	0	0	1	0	0	0	6287	1115	39	1	1912	1	GAS2L2	17	34074958	Missense_Mutation	SNP	G	TCGA-TM-A7C3-01A-11D-A32B-08	7257106	34074958	47120252	52	36111											
TNS4	84951	broad.mit.edu	37	17	38645139	38645139	+	Silent	SNP	C	C	T			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr17:38645139C>T	ENST00000254051.6	-	3	680	c.522G>A	c.(520-522)ccG>ccA	p.P174P		NM_032865.5	NP_116254.4	Q8IZW8	TENS4_HUMAN	tensin 4	174	Ser-rich.				apoptosis|protein localization	cytoplasm|cytoskeleton|focal adhesion	actin binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	30		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(5;5.91e-05)			AGCCGAAGGGCGGGGTGACAG	0.607													9	59					0	0	1	0	0	T	38645139	C	T	38645139	2	4	457	1	0	0	0	0	0	0	0	1	16405	755	27	1		1	TNS4	17	38645139	Silent	SNP	C	TCGA-TM-A7C3-01A-11D-A32B-08	4570181	38645139	42550071	53	36112											
KRT13	3860	broad.mit.edu	37	17	39659673	39659673	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr17:39659673G>A	ENST00000246635.3	-	3	647	c.601C>T	c.(601-603)Cgc>Tgc	p.R201C	KRT13_ENST00000587544.1_Missense_Mutation_p.R201C|KRT13_ENST00000336861.3_Missense_Mutation_p.R201C	NM_153490.2	NP_705694	P13646	K1C13_HUMAN	keratin 13	201	Coil 1B.|Rod.				epidermis development	intermediate filament	structural molecule activity			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	33		Breast(137;0.000286)				ACGCTCTGGCGCAGGGCCAGC	0.483													30	31					0	0	1	0	0	A	39659673	G	A	39659673	3	1	457	1	0	0	0	0	1	0	0	0	8493	1087	38	1	799	1	KRT13	17	39659673	Missense_Mutation	SNP	G	TCGA-TM-A7C3-01A-11D-A32B-08	1014534	39659673	41535537	54	36113											
NPTX1	4884	broad.mit.edu	37	17	78447110	78447110	+	Missense_Mutation	SNP	C	C	T			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr17:78447110C>T	ENST00000306773.4	-	3	944	c.787G>A	c.(787-789)Gcc>Acc	p.A263T		NM_002522.3	NP_002513.2	Q15818	NPTX1_HUMAN	neuronal pentraxin I	263	Pentaxin.				central nervous system development|synaptic transmission|transport	transport vesicle	metal ion binding			kidney(1)|large_intestine(2)|liver(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)	11	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0487)			CCTGGCGTGGCGCTGGACTTG	0.587													24	116					0	0	1	0	0	T	78447110	C	T	78447110	3	4	457	1	0	0	0	0	1	0	0	0	10650	768	27	1	523	1	NPTX1	17	78447110	Missense_Mutation	SNP	C	TCGA-TM-A7C3-01A-11D-A32B-08	38787437	78447110	2748100	55	36114											
ACAA2	10449	broad.mit.edu	37	18	47329202	47329202	+	Missense_Mutation	SNP	T	T	C			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr18:47329202T>C	ENST00000285093.10	-	2	513	c.38A>G	c.(37-39)aAg>aGg	p.K13R	ACAA2_ENST00000589432.1_5'UTR|RP11-886H22.1_ENST00000590532.2_3'UTR|ACAA2_ENST00000587994.1_Missense_Mutation_p.K10R	NM_006111.2	NP_006102.2	P42765	THIM_HUMAN	acetyl-CoA acyltransferase 2	13					anti-apoptosis|cholesterol biosynthetic process		acetyl-CoA C-acyltransferase activity|protein binding			large_intestine(2)|lung(7)|ovary(1)	10						GGGCGTTCGCTTAGCAGCAAC	0.448													30	26					0	0	1	0	0	C	47329202	T	C	47329202	3	2	457	1	0	0	0	0	1	0	0	0	105	1609	56	3	1191	3	ACAA2	18	47329202	Missense_Mutation	SNP	T	TCGA-TM-A7C3-01A-11D-A32B-08		47329202	30748046	56	36115											
THOP1	7064	broad.mit.edu	37	19	2808387	2808387	+	Missense_Mutation	SNP	A	A	G			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr19:2808387A>G	ENST00000307741.6	+	9	1603	c.1400A>G	c.(1399-1401)gAg>gGg	p.E467G	THOP1_ENST00000586677.1_Missense_Mutation_p.E346G|THOP1_ENST00000591149.1_3'UTR	NM_003249.3	NP_003240.1	P52888	THOP1_HUMAN	thimet oligopeptidase 1	467					proteolysis	cytoplasm	metal ion binding|metalloendopeptidase activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(1)|lung(8)|ovary(2)|skin(1)	14				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)		CAGCATGACGAGGTGGAGACC	0.692													9	17					0	0	1	0	0	G	2808387	A	G	2808387	3	3	457	1	0	0	0	0	1	0	0	0	15931	304	11	3	1434	3	THOP1	19	2808387	Missense_Mutation	SNP	A	TCGA-TM-A7C3-01A-11D-A32B-08		2808387	56320596	57	36116											
TNFSF14	8740	broad.mit.edu	37	19	6664984	6664984	+	Nonsense_Mutation	SNP	G	G	A			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr19:6664984G>A	ENST00000326176.9	-	5	949	c.568C>T	c.(568-570)Cga>Tga	p.R190*	TNFSF14_ENST00000245912.3_Nonsense_Mutation_p.R190*|TNFSF14_ENST00000599359.1_Nonsense_Mutation_p.R226*	NM_003807.3|NM_172014.2	NP_003798.2|NP_742011.2	O43557	TNF14_HUMAN	tumor necrosis factor (ligand) superfamily, member 14	226					cellular response to mechanical stimulus|immune response|induction of apoptosis|release of cytoplasmic sequestered NF-kappaB|T cell homeostasis|T cell proliferation	cytoplasm|extracellular space|integral to membrane|plasma membrane	caspase inhibitor activity|cytokine activity|tumor necrosis factor receptor binding			breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18						TCACGCAGTCGAACCAGGCGT	0.602													56	133					0	0	1	0	0	A	6664984	G	A	6664984	4	1	457	1	0	0	0	0	0	1	0	0	16367	1066	37	1	50	1	TNFSF14	19	6664984	Nonsense_Mutation	SNP	G	TCGA-TM-A7C3-01A-11D-A32B-08	3856597	6664984	52463999	58	36117											
SMARCA4	6597	broad.mit.edu	37	19	11170533	11170533	+	Silent	SNP	G	G	A			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr19:11170533G>A	ENST00000358026.2	+	34	5120	c.4836G>A	c.(4834-4836)gaG>gaA	p.E1612E	SMARCA4_ENST00000413806.3_Silent_p.E1550E|SMARCA4_ENST00000589677.1_Silent_p.E1549E|SMARCA4_ENST00000344626.4_Silent_p.E1580E|SMARCA4_ENST00000541122.2_Silent_p.E1550E|SMARCA4_ENST00000590574.1_Silent_p.E1547E|SMARCA4_ENST00000444061.3_Silent_p.E1546E|SMARCA4_ENST00000429416.3_Silent_p.E1580E|SMARCA4_ENST00000450717.3_Silent_p.E1549E	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	1580					chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				aggaggaagagggcgaggagg	0.612			"F, N, Mis"		NSCLC								8	28					0	0	1	0	0	A	11170533	G	A	11170533	2	1	457	1	0	0	0	0	0	0	0	1	14824	991	35	2		2	SMARCA4	19	11170533	Silent	SNP	G	TCGA-TM-A7C3-01A-11D-A32B-08	4505549	11170533	47958450	59	36118											
PBX4	80714	broad.mit.edu	37	19	19675808	19675808	+	Missense_Mutation	SNP	C	C	T			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr19:19675808C>T	ENST00000251203.9	-	6	1145	c.859G>A	c.(859-861)Gct>Act	p.A287T		NM_025245.2	NP_079521.1	Q9BYU1	PBX4_HUMAN	pre-B-cell leukemia homeobox 4								sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|lung(4)|ovary(1)|prostate(3)	9						GTATCCACAGCCGTTTTACCC	0.527													57	382					0	0	1	0	0	T	19675808	C	T	19675808	3	4	457	1	0	0	0	0	1	0	0	0	11542	739	26	2	277	2	PBX4	19	19675808	Missense_Mutation	SNP	C	TCGA-TM-A7C3-01A-11D-A32B-08	8505275	19675808	39453175	60	36119											
ATP1A3	478	broad.mit.edu	37	19	42489240	42489240	+	Missense_Mutation	SNP	C	C	T			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr19:42489240C>T	ENST00000545399.1	-	8	1015	c.862G>A	c.(862-864)Gcc>Acc	p.A288T	ATP1A3_ENST00000543770.1_Missense_Mutation_p.A286T|ATP1A3_ENST00000602133.1_Missense_Mutation_p.A245T|ATP1A3_ENST00000302102.5_Missense_Mutation_p.A275T	NM_001256214.1	NP_001243143.1	P13637	AT1A3_HUMAN	ATPase, Na+/K+ transporting, alpha 3 polypeptide	275					ATP biosynthetic process	endoplasmic reticulum|Golgi apparatus	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						ATCTCGATGGCGATGGGCGTC	0.632													9	17					0	0	1	0	0	T	42489240	C	T	42489240	3	4	457	1	0	0	0	0	1	0	0	0	1129	768	27	1	2282	1	ATP1A3	19	42489240	Missense_Mutation	SNP	C	TCGA-TM-A7C3-01A-11D-A32B-08	22813432	42489240	16639743	61	36120											
SYMPK	8189	broad.mit.edu	37	19	46351096	46351096	+	Missense_Mutation	SNP	C	C	T			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr19:46351096C>T	ENST00000245934.7	-	7	834	c.590G>A	c.(589-591)cGc>cAc	p.R197H		NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN	symplekin	197					cell adhesion|mRNA processing	cytoplasm|cytoskeleton|nucleoplasm|tight junction	protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		GTCAGCCATGCGGGGTGACAG	0.577													3	44					0	0	1	0	0	T	46351096	C	T	46351096	3	4	457	1	0	0	0	0	1	0	0	0	15496	768	27	1	3318	1	SYMPK	19	46351096	Missense_Mutation	SNP	C	TCGA-TM-A7C3-01A-11D-A32B-08	3861856	46351096	12777887	62	36121											
SIGLEC1	6614	broad.mit.edu	37	20	3686553	3686553	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr20:3686553G>A	ENST00000344754.4	-	3	543	c.544C>T	c.(544-546)Cgc>Tgc	p.R182C	SIGLEC1_ENST00000202578.4_Missense_Mutation_p.R182C	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	182	Ig-like C2-type 1.				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						GTGACAGAGCGAGCAGGGTCC	0.627													18	83					0	0	1	0	0	A	3686553	G	A	3686553	3	1	457	1	0	0	0	0	1	0	0	0	14360	1058	37	1	4661	1	SIGLEC1	20	3686553	Missense_Mutation	SNP	G	TCGA-TM-A7C3-01A-11D-A32B-08		3686553	59338967	63	36122											
SEMG1	6406	broad.mit.edu	37	20	43836216	43836216	+	Missense_Mutation	SNP	C	C	T			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr20:43836216C>T	ENST00000372781.3	+	2	335	c.278C>T	c.(277-279)aCg>aTg	p.T93M	SEMG1_ENST00000244069.6_Missense_Mutation_p.T93M	NM_003007.3	NP_002998.1			semenogelin I											cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	32		Myeloproliferative disorder(115;0.0122)				CTACATAAGACGACAAAATCA	0.378													18	76					0	0	1	0	0	T	43836216	C	T	43836216	3	4	457	1	0	0	0	0	1	0	0	0	14098	536	19	1	284	1	SEMG1	20	43836216	Missense_Mutation	SNP	C	TCGA-TM-A7C3-01A-11D-A32B-08	40149663	43836216	19189304	64	36123											
MED15	51586	broad.mit.edu	37	22	20929472	20929472	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr22:20929472G>A	ENST00000263205.7	+	9	1294	c.1225G>A	c.(1225-1227)Gcc>Acc	p.A409T	MED15_ENST00000541476.1_Intron|MED15_ENST00000478831.1_Intron|MED15_ENST00000382974.2_Intron|MED15_ENST00000542773.1_Intron|MED15_ENST00000425759.2_Intron|MED15_ENST00000406969.1_Intron|MED15_ENST00000292733.7_Intron	NM_001003891.1	NP_001003891.1	Q96RN5	MED15_HUMAN	mediator complex subunit 15	409	Pro-rich.				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|mediator complex	protein binding			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)			CGCTGTGTCCGCCATCCCGTC	0.622													4	95					0	0	1	0	0	A	20929472	G	A	20929472	3	1	457	1	0	0	0	0	1	0	0	0	9483	1087	38	1	1259	1	MED15	22	20929472	Missense_Mutation	SNP	G	TCGA-TM-A7C3-01A-11D-A32B-08		20929472	30375094	65	36124											
MAP7D2	256714	broad.mit.edu	37	X	20033363	20033363	+	Missense_Mutation	SNP	T	T	G			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chrX:20033363T>G	ENST00000379651.3	-	11	1622	c.1604A>C	c.(1603-1605)cAg>cCg	p.Q535P	MAP7D2_ENST00000443379.3_Missense_Mutation_p.Q490P|MAP7D2_ENST00000452324.3_Missense_Mutation_p.Q483P|MAP7D2_ENST00000379643.5_Missense_Mutation_p.Q576P|MAP7D2_ENST00000543767.1_Missense_Mutation_p.Q420P	NM_152780.3	NP_689993.2	Q96T17	MA7D2_HUMAN	MAP7 domain containing 2	535										NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	37						CAGTCTCTCCTGCTCAATCTG	0.473													9	64					0	0	1	0	0	G	20033363	T	G	20033363	3	3	457	1	0	0	0	0	1	0	0	0	9318	1580	55	5	614	5	MAP7D2	23	20033363	Missense_Mutation	SNP	T	TCGA-TM-A7C3-01A-11D-A32B-08		20033363	135237197	66	36125											
MED12	9968	broad.mit.edu	37	X	70352986	70352986	+	Nonsense_Mutation	SNP	G	G	A			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chrX:70352986G>A	ENST00000333646.6	+	33	4740	c.4541G>A	c.(4540-4542)tGg>tAg	p.W1514*	MED12_ENST00000374102.1_Nonsense_Mutation_p.W1514*|MED12_ENST00000374080.3_Nonsense_Mutation_p.W1514*	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN	mediator complex subunit 12	1514					androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					GTGAATAATTGGCGAGATGAC	0.438			"M, S"		uterine leiomyoma		Opitz-Kaveggia Syndrome						22	34					0	0	1	0	0	A	70352986	G	A	70352986	4	1	457	1	0	0	0	0	0	1	0	0	9478	1357	47	2	4671	2	MED12	23	70352986	Nonsense_Mutation	SNP	G	TCGA-TM-A7C3-01A-11D-A32B-08	50319623	70352986	84917574	67	36126											
STAG2	10735	broad.mit.edu	37	X	123179121	123179121	+	Silent	SNP	C	C	T			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chrX:123179121C>T	ENST00000371160.1	+	8	860	c.570C>T	c.(568-570)atC>atT	p.I190I	STAG2_ENST00000371145.3_Silent_p.I190I|STAG2_ENST00000354548.5_Silent_p.I121I|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000218089.9_Silent_p.I190I|STAG2_ENST00000371144.3_Silent_p.I190I|STAG2_ENST00000371157.3_Silent_p.I190I	NM_001282418.1	NP_001269347.1	Q8N3U4	STAG2_HUMAN	stromal antigen 2	190					cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						AATATAGTATCATATATGATG	0.408													72	90					0	0	1	0	0	T	123179121	C	T	123179121	2	4	457	1	0	0	0	0	0	0	0	1	15299	816	29	2		2	STAG2	23	123179121	Silent	SNP	C	TCGA-TM-A7C3-01A-11D-A32B-08	52826135	123179121	32091439	68	36127											
STAG2	10735	broad.mit.edu	37	X	123227873	123227873	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chrX:123227873G>A	ENST00000371160.1	+	32	3763	c.3473G>A	c.(3472-3474)cGt>cAt	p.R1158H	STAG2_ENST00000371145.3_Missense_Mutation_p.R1195H|STAG2_ENST00000354548.5_Missense_Mutation_p.R1089H|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000218089.9_Missense_Mutation_p.R1195H|STAG2_ENST00000371144.3_Missense_Mutation_p.R1158H|STAG2_ENST00000371157.3_Missense_Mutation_p.R1158H	NM_001282418.1	NP_001269347.1	Q8N3U4	STAG2_HUMAN	stromal antigen 2	1158					cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						TCTAGTCGGCGTGGCACAAGC	0.388													33	60					0	0	1	0	0	A	123227873	G	A	123227873	3	1	457	1	0	0	0	0	1	0	0	0	15299	1145	40	1	3706	1	STAG2	23	123227873	Missense_Mutation	SNP	G	TCGA-TM-A7C3-01A-11D-A32B-08	48752	123227873	32042687	69	36128											
ATP11C	286410	broad.mit.edu	37	X	138864753	138864753	+	Silent	SNP	A	A	G			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chrX:138864753A>G	ENST00000370557.1	-	18	2932	c.1905T>C	c.(1903-1905)gaT>gaC	p.D635D	ATP11C_ENST00000361648.2_Silent_p.D638D|ATP11C_ENST00000327569.3_Silent_p.D638D|ATP11C_ENST00000460773.1_5'UTR|ATP11C_ENST00000359686.2_Silent_p.D638D|ATP11C_ENST00000370543.1_Silent_p.D638D			Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C	638					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)					TTGTCTCAATATCATCGAAAA	0.333													33	33					0	0	1	0	0	G	138864753	A	G	138864753	2	3	457	1	0	0	0	0	0	0	0	1	1120	446	16	3		3	ATP11C	23	138864753	Silent	SNP	A	TCGA-TM-A7C3-01A-11D-A32B-08	15636880	138864753	16405807	70	36129											
MAGEA10	4109	broad.mit.edu	37	X	151304073	151304073	+	Missense_Mutation	SNP	C	C	T	rs145553450	byFrequency	TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chrX:151304073C>T	ENST00000370323.4	-	4	336	c.20G>A	c.(19-21)cGt>cAt	p.R7H	MAGEA10_ENST00000244096.3_Missense_Mutation_p.R7H|RP11-1007I13.4_ENST00000509345.2_RNA	NM_001251828.1|NM_021048.4	NP_001238757.1|NP_066386	P43363	MAGAA_HUMAN	melanoma antigen family A, 10	7								p.R7H(1)		endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					GCAGCGCTGACGCTTTGGAGC	0.602													39	50					0	0	1	0	0	T	151304073	C	T	151304073	3	4	457	1	0	0	0	0	1	0	0	0	9210	536	19	1	1093	1	MAGEA10	23	151304073	Missense_Mutation	SNP	C	TCGA-TM-A7C3-01A-11D-A32B-08	12439320	151304073	3966487	71	36130											
PLXNB3	5365	broad.mit.edu	37	X	153036313	153036313	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chrX:153036313G>A	ENST00000538966.1	+	12	2451	c.2180G>A	c.(2179-2181)cGc>cAc	p.R727H	PLXNB3_ENST00000538282.1_Missense_Mutation_p.R314H|PLXNB3_ENST00000538776.1_Missense_Mutation_p.R357H|PLXNB3_ENST00000538543.1_Intron|PLXNB3_ENST00000361971.5_Missense_Mutation_p.R704H	NM_001163257.1	NP_001156729.1	Q9ULL4	PLXB3_HUMAN	plexin B3	704					axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity			central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					TTGGCCCTACGCGTGCGGAAC	0.637													13	64					0	0	1	0	0	A	153036313	G	A	153036313	3	1	457	1	0	0	0	0	1	0	0	0	12173	1087	38	1	2267	1	PLXNB3	23	153036313	Missense_Mutation	SNP	G	TCGA-TM-A7C3-01A-11D-A32B-08	1732240	153036313	2234247	72	36131											
AGL	178	broad.mit.edu	37	1	100356833	100356833	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A7C4-01A-11D-A32B-08	TCGA-TM-A7C4-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce598820-dfa5-4bd2-b776-f805cc61c235	bc73cf39-3071-41de-9dbc-de49be538b78	g.chr1:100356833G>A	ENST00000294724.4	+	22	3348	c.2870G>A	c.(2869-2871)tGt>tAt	p.C957Y	AGL_ENST00000370163.3_Missense_Mutation_p.C957Y|AGL_ENST00000361302.3_Missense_Mutation_p.C941Y|AGL_ENST00000361915.3_Missense_Mutation_p.C957Y|AGL_ENST00000370161.2_Missense_Mutation_p.C941Y|AGL_ENST00000361522.4_Missense_Mutation_p.C940Y|AGL_ENST00000370165.3_Missense_Mutation_p.C957Y	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase	957					glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|isoamylase complex|nucleus	4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		CATCCTTTTTGTAATAATTTG	0.368													22	37					0	0	1	0	0	A	100356833	G	A	100356833	3	1	458	1	0	0	0	0	1	0	0	0	381	1377	48	2	3021	2	AGL	1	100356833	Missense_Mutation	SNP	G	TCGA-TM-A7C4-01A-11D-A32B-08		100356833	148893788	1	36132											
ADCY10	55811	broad.mit.edu	37	1	167802329	167802329	+	Silent	SNP	T	T	G			TCGA-TM-A7C4-01A-11D-A32B-08	TCGA-TM-A7C4-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce598820-dfa5-4bd2-b776-f805cc61c235	bc73cf39-3071-41de-9dbc-de49be538b78	g.chr1:167802329T>G	ENST00000367848.1	-	25	3710	c.3213A>C	c.(3211-3213)cgA>cgC	p.R1071R	ADCY10_ENST00000545172.1_Silent_p.R1010R|ADCY10_ENST00000367851.4_Silent_p.R1163R			Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	1163					intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						AAGGAAAGATTCGGTTGAGGA	0.473													117	187					0	0	1	0	0	G	167802329	T	G	167802329	2	3	458	1	0	0	0	0	0	0	0	1	292	1770	62	5		5	ADCY10	1	167802329	Silent	SNP	T	TCGA-TM-A7C4-01A-11D-A32B-08	67445496	167802329	81448292	2	36133											
REL	5966	broad.mit.edu	37	2	61149557	61149557	+	Missense_Mutation	SNP	A	A	T			TCGA-TM-A7C4-01A-11D-A32B-08	TCGA-TM-A7C4-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce598820-dfa5-4bd2-b776-f805cc61c235	bc73cf39-3071-41de-9dbc-de49be538b78	g.chr2:61149557A>T	ENST00000295025.8	+	11	2067	c.1747A>T	c.(1747-1749)Agt>Tgt	p.S583C	REL_ENST00000394479.3_Missense_Mutation_p.S551C	NM_002908.2	NP_002899.1	Q04864	REL_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog						positive regulation of I-kappaB kinase/NF-kappaB cascade	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|large_intestine(5)|lung(3)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	16	all_hematologic(2;0.0797)	Ovarian(717;0.0728)	LUSC - Lung squamous cell carcinoma(5;6.2e-08)|Lung(5;1.65e-06)|Epithelial(17;0.064)|all cancers(80;0.221)			ACCATCAAACAGTACTAATCC	0.373			A		Hodgkin Lymphoma								15	44					0	0	1	0	0	T	61149557	A	T	61149557	3	4	458	1	0	0	0	0	1	0	0	0	13267	188	7	5	1789	5	REL	2	61149557	Missense_Mutation	SNP	A	TCGA-TM-A7C4-01A-11D-A32B-08		61149557	182049816	3	36134											
CEP68	23177	broad.mit.edu	37	2	65298755	65298755	+	Silent	SNP	C	C	G			TCGA-TM-A7C4-01A-11D-A32B-08	TCGA-TM-A7C4-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce598820-dfa5-4bd2-b776-f805cc61c235	bc73cf39-3071-41de-9dbc-de49be538b78	g.chr2:65298755C>G	ENST00000377990.2	+	3	728	c.525C>G	c.(523-525)ctC>ctG	p.L175L	CEP68_ENST00000497039.1_3'UTR|CEP68_ENST00000537589.1_5'UTR|CEP68_ENST00000260569.4_Silent_p.L175L|RAB1A_ENST00000494188.1_Intron|CEP68_ENST00000546106.1_Silent_p.L175L	NM_015147.2	NP_055962.2	Q76N32	CEP68_HUMAN	centrosomal protein 68kDa	175					centrosome organization	centrosome				breast(1)|endometrium(6)|kidney(8)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32						GCTCAGGTCTCTCTTGCCTGT	0.577													13	35					0	0	1	0	0	G	65298755	C	G	65298755	2	3	458	1	0	0	0	0	0	0	0	1	3280	900	32	4		4	CEP68	2	65298755	Silent	SNP	C	TCGA-TM-A7C4-01A-11D-A32B-08	4149198	65298755	177900618	4	36135			1	47		2	2	23	N	T_C	3.126894e-05
CEP68	23177	broad.mit.edu	37	2	65298777	65298777	+	Missense_Mutation	SNP	T	T	C			TCGA-TM-A7C4-01A-11D-A32B-08	TCGA-TM-A7C4-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce598820-dfa5-4bd2-b776-f805cc61c235	bc73cf39-3071-41de-9dbc-de49be538b78	g.chr2:65298777T>C	ENST00000377990.2	+	3	750	c.547T>C	c.(547-549)Tcc>Ccc	p.S183P	CEP68_ENST00000497039.1_3'UTR|CEP68_ENST00000537589.1_5'UTR|CEP68_ENST00000260569.4_Missense_Mutation_p.S183P|RAB1A_ENST00000494188.1_Intron|CEP68_ENST00000546106.1_Missense_Mutation_p.S183P	NM_015147.2	NP_055962.2	Q76N32	CEP68_HUMAN	centrosomal protein 68kDa	183					centrosome organization	centrosome				breast(1)|endometrium(6)|kidney(8)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32						ACAGTGGAAGTCCGTGCTGAG	0.607													11	32					0	0	1	0	0	C	65298777	T	C	65298777	3	2	458	1	0	0	0	0	1	0	0	0	3280	1667	58	3	553	3	CEP68	2	65298777	Missense_Mutation	SNP	T	TCGA-TM-A7C4-01A-11D-A32B-08	22	65298777	177900596	5	36136			1	47		2	2	23	N	T_C	3.126894e-05
LCT	3938	broad.mit.edu	37	2	136558246	136558246	+	Missense_Mutation	SNP	G	G	T			TCGA-TM-A7C4-01A-11D-A32B-08	TCGA-TM-A7C4-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce598820-dfa5-4bd2-b776-f805cc61c235	bc73cf39-3071-41de-9dbc-de49be538b78	g.chr2:136558246G>T	ENST00000264162.2	-	12	4807	c.4797C>A	c.(4795-4797)agC>agA	p.S1599R		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	1599	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		CCCAGTCACTGCTGATGGTGA	0.522													12	39					2.27111e-07	2.38858e-07	1	1	0	T	136558246	G	T	136558246	3	4	458	1	0	0	0	0	1	0	0	0	8732	1310	46	5	1010	5	LCT	2	136558246	Missense_Mutation	SNP	G	TCGA-TM-A7C4-01A-11D-A32B-08	71259469	136558246	106641127	6	36137											
TTN	7273	broad.mit.edu	37	2	179474646	179474646	+	Nonsense_Mutation	SNP	C	C	T			TCGA-TM-A7C4-01A-11D-A32B-08	TCGA-TM-A7C4-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce598820-dfa5-4bd2-b776-f805cc61c235	bc73cf39-3071-41de-9dbc-de49be538b78	g.chr2:179474646C>T	ENST00000589042.1	-	272	51728	c.51504G>A	c.(51502-51504)tgG>tgA	p.W17168*	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Nonsense_Mutation_p.W8228*|TTN_ENST00000460472.2_Nonsense_Mutation_p.W8103*|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342175.6_Nonsense_Mutation_p.W8295*|TTN_ENST00000591111.1_Nonsense_Mutation_p.W15527*|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.W14600*	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	15527	Fibronectin type-III 24.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AAGGTGGCTTCCATGTAATAG	0.433													47	129					0	0	1	0	0	T	179474646	C	T	179474646	4	4	458	1	0	0	0	0	0	1	0	0	16797	856	30	2	56553	2	TTN	2	179474646	Nonsense_Mutation	SNP	C	TCGA-TM-A7C4-01A-11D-A32B-08	42916400	179474646	63724727	7	36138											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-TM-A7C4-01A-11D-A32B-08	TCGA-TM-A7C4-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce598820-dfa5-4bd2-b776-f805cc61c235	bc73cf39-3071-41de-9dbc-de49be538b78	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	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								16	29					0	0	1	0	0	T	209113112	C	T	209113112	3	4	458	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-TM-A7C4-01A-11D-A32B-08	29638466	209113112	34086261	8	36139											
PTPRG	5793	broad.mit.edu	37	3	62268456	62268456	+	Missense_Mutation	SNP	G	G	C			TCGA-TM-A7C4-01A-11D-A32B-08	TCGA-TM-A7C4-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce598820-dfa5-4bd2-b776-f805cc61c235	bc73cf39-3071-41de-9dbc-de49be538b78	g.chr3:62268456G>C	ENST00000474889.1	+	28	4344	c.3967G>C	c.(3967-3969)Gat>Cat	p.D1323H	PTPRG-AS1_ENST00000474795.1_RNA|PTPRG-AS1_ENST00000495542.1_RNA|PTPRG-AS1_ENST00000479018.1_RNA|PTPRG-AS1_ENST00000475371.1_RNA|PTPRG-AS1_ENST00000490916.1_RNA|PTPRG-AS1_ENST00000466893.1_RNA|PTPRG-AS1_ENST00000462497.1_RNA|PTPRG_ENST00000295874.10_Missense_Mutation_p.D1294H	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	1323	Tyrosine-protein phosphatase 2.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	identical protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		GCCTAACCCAGATGCCCCCAT	0.428													17	146					0	0	1	0	0	C	62268456	G	C	62268456	3	2	458	1	0	0	0	0	1	0	0	0	12854	942	33	4	4077	4	PTPRG	3	62268456	Missense_Mutation	SNP	G	TCGA-TM-A7C4-01A-11D-A32B-08		62268456	135753974	9	36140											
KIAA2018	205717	broad.mit.edu	37	3	113377453	113377453	+	Missense_Mutation	SNP	T	T	A			TCGA-TM-A7C4-01A-11D-A32B-08	TCGA-TM-A7C4-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce598820-dfa5-4bd2-b776-f805cc61c235	bc73cf39-3071-41de-9dbc-de49be538b78	g.chr3:113377453T>A	ENST00000316407.4	-	7	3486	c.3076A>T	c.(3076-3078)Atg>Ttg	p.M1026L	KIAA2018_ENST00000478658.1_Missense_Mutation_p.M1026L|KIAA2018_ENST00000491165.1_Intron	NM_001009899.2	NP_001009899.2	Q68DE3	K2018_HUMAN	KIAA2018	1026					regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						GGATGATCCATCTGATCAGAA	0.348													11	112					0	0	1	0	0	A	113377453	T	A	113377453	3	1	458	1	0	0	0	0	1	0	0	0	8310	1435	50	4	3665	4	KIAA2018	3	113377453	Missense_Mutation	SNP	T	TCGA-TM-A7C4-01A-11D-A32B-08	51108997	113377453	84644977	10	36141											
ILDR1	286676	broad.mit.edu	37	3	121712253	121712253	+	Missense_Mutation	SNP	C	C	T			TCGA-TM-A7C4-01A-11D-A32B-08	TCGA-TM-A7C4-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce598820-dfa5-4bd2-b776-f805cc61c235	bc73cf39-3071-41de-9dbc-de49be538b78	g.chr3:121712253C>T	ENST00000273691.3	-	6	1316	c.1211G>A	c.(1210-1212)cGc>cAc	p.R404H	ILDR1_ENST00000344209.5_Missense_Mutation_p.R448H|ILDR1_ENST00000460554.1_5'UTR|ILDR1_ENST00000393631.1_Missense_Mutation_p.R359H|ILDR1_ENST00000462014.1_Missense_Mutation_p.R416H	NM_175924.3	NP_787120.1	Q86SU0	ILDR1_HUMAN	immunoglobulin-like domain containing receptor 1	448						cytosol|integral to membrane|plasma membrane	receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(114;0.156)		GCTGGGCCTGCGGGGCCTCTC	0.677													6	14					0	0	1	0	0	T	121712253	C	T	121712253	3	4	458	1	0	0	0	0	1	0	0	0	7753	768	27	1	305	1	ILDR1	3	121712253	Missense_Mutation	SNP	C	TCGA-TM-A7C4-01A-11D-A32B-08	8334800	121712253	76310177	11	36142											
RASA2	5922	broad.mit.edu	37	3	141289844	141289844	+	Missense_Mutation	SNP	C	C	G			TCGA-TM-A7C4-01A-11D-A32B-08	TCGA-TM-A7C4-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce598820-dfa5-4bd2-b776-f805cc61c235	bc73cf39-3071-41de-9dbc-de49be538b78	g.chr3:141289844C>G	ENST00000286364.3	+	10	989	c.954C>G	c.(952-954)gaC>gaG	p.D318E	RASA2_ENST00000452898.1_Missense_Mutation_p.D318E			Q15283	RASA2_HUMAN	RAS p21 protein activator 2	318					intracellular signal transduction|negative regulation of Ras protein signal transduction	intracellular membrane-bounded organelle|intrinsic to internal side of plasma membrane|perinuclear region of cytoplasm	metal ion binding|Ras GTPase activator activity			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	34						ATACAGAAGACTACGTGCTTC	0.363													10	15					0	0	1	0	0	G	141289844	C	G	141289844	3	3	458	1	0	0	0	0	1	0	0	0	13113	564	20	4	992	4	RASA2	3	141289844	Missense_Mutation	SNP	C	TCGA-TM-A7C4-01A-11D-A32B-08	19577591	141289844	56732586	12	36143											
NDUFAF2	91942	broad.mit.edu	37	5	60241050	60241050	+	Translation_Start_Site	SNP	G	G	A			TCGA-TM-A7C4-01A-11D-A32B-08	TCGA-TM-A7C4-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce598820-dfa5-4bd2-b776-f805cc61c235	bc73cf39-3071-41de-9dbc-de49be538b78	g.chr5:60241050G>A	ENST00000296597.5	+	0	95				NDUFAF2_ENST00000511107.1_De_novo_Start_OutOfFrame	NM_174889.4	NP_777549.1	Q8N183	MIMIT_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 2							membrane|mitochondrion	electron carrier activity|NADH dehydrogenase (ubiquinone) activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|ovary(1)	6		Lung NSC(810;3.36e-05)|Prostate(74;0.0225)|Ovarian(174;0.17)|Breast(144;0.237)				TGCGGGTCCCGCTGCTGGCAG	0.632													3	11					0	0	1	0	0	A	60241050	G	A	60241050	1	1	458	1	0	0	0	0	0	0	0	0	10322	1102	38	1		1	NDUFAF2	5	60241050	Translation_Start_Site	SNP	G	TCGA-TM-A7C4-01A-11D-A32B-08		60241050	120674210	13	36144											
SLC22A5	6584	broad.mit.edu	37	5	131714135	131714135	+	Silent	SNP	G	G	A			TCGA-TM-A7C4-01A-11D-A32B-08	TCGA-TM-A7C4-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce598820-dfa5-4bd2-b776-f805cc61c235	bc73cf39-3071-41de-9dbc-de49be538b78	g.chr5:131714135G>A	ENST00000245407.3	+	2	680	c.459G>A	c.(457-459)gtG>gtA	p.V153V	SLC22A5_ENST00000435065.2_Silent_p.V177V	NM_003060.3	NP_003051.1	O76082	S22A5_HUMAN	solute carrier family 22 (organic cation/carnitine transporter), member 5	153					positive regulation of intestinal epithelial structure maintenance|quorum sensing involved in interaction with host|sodium ion transport|sodium-dependent organic cation transport	apical plasma membrane|brush border membrane|integral to membrane	ATP binding|carnitine transporter activity|PDZ domain binding|symporter activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|stomach(1)	8		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		L-Carnitine(DB00583)	TCGTGGGTGTGCTGTTGGGCT	0.547													95	169					0	0	1	0	0	A	131714135	G	A	131714135	2	1	458	1	0	0	0	0	0	0	0	1	14512	1306	46	2		2	SLC22A5	5	131714135	Silent	SNP	G	TCGA-TM-A7C4-01A-11D-A32B-08	71473085	131714135	49201125	14	36145											
HACE1	57531	broad.mit.edu	37	6	105300205	105300205	+	Missense_Mutation	SNP	C	C	T			TCGA-TM-A7C4-01A-11D-A32B-08	TCGA-TM-A7C4-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce598820-dfa5-4bd2-b776-f805cc61c235	bc73cf39-3071-41de-9dbc-de49be538b78	g.chr6:105300205C>T	ENST00000262903.4	-	2	394	c.118G>A	c.(118-120)Gct>Act	p.A40T	HACE1_ENST00000369125.2_Missense_Mutation_p.A40T	NM_020771.3	NP_065822.2	Q8IYU2	HACE1_HUMAN	HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1	40					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	endoplasmic reticulum	ubiquitin-protein ligase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	44		all_cancers(87;6.89e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0216)|Colorectal(196;0.202)		BRCA - Breast invasive adenocarcinoma(108;0.122)|Epithelial(106;0.204)		TGTTGATCAGCCATAACCATT	0.393													9	21					0	0	1	0	0	T	105300205	C	T	105300205	3	4	458	1	0	0	0	0	1	0	0	0	6981	739	26	2	2703	2	HACE1	6	105300205	Missense_Mutation	SNP	C	TCGA-TM-A7C4-01A-11D-A32B-08		105300205	65814862	15	36146											
DSE	29940	broad.mit.edu	37	6	116720523	116720523	+	Missense_Mutation	SNP	A	A	G			TCGA-TM-A7C4-01A-11D-A32B-08	TCGA-TM-A7C4-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce598820-dfa5-4bd2-b776-f805cc61c235	bc73cf39-3071-41de-9dbc-de49be538b78	g.chr6:116720523A>G	ENST00000331677.3	+	3	554	c.110A>G	c.(109-111)aAt>aGt	p.N37S	DSE_ENST00000537543.1_Missense_Mutation_p.N56S|DSE_ENST00000359564.2_Missense_Mutation_p.N37S|DSE_ENST00000452085.3_Missense_Mutation_p.N37S|DSE_ENST00000540275.1_3'UTR			Q9UL01	DSE_HUMAN	dermatan sulfate epimerase	37					dermatan sulfate biosynthetic process	endoplasmic reticulum|Golgi apparatus|integral to membrane	chondroitin-glucuronate 5-epimerase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)		CCCTTCACCAATGCCAACTAC	0.552													8	52					0	0	1	0	0	G	116720523	A	G	116720523	3	3	458	1	0	0	0	0	1	0	0	0	4800	101	4	3	112	3	DSE	6	116720523	Missense_Mutation	SNP	A	TCGA-TM-A7C4-01A-11D-A32B-08	11420318	116720523	54394544	16	36147											
CTSB	1508	broad.mit.edu	37	8	11710899	11710899	+	Missense_Mutation	SNP	G	G	A	rs144593312		TCGA-TM-A7C4-01A-11D-A32B-08	TCGA-TM-A7C4-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce598820-dfa5-4bd2-b776-f805cc61c235	bc73cf39-3071-41de-9dbc-de49be538b78	g.chr8:11710899G>A	ENST00000353047.6	-	2	318	c.65C>T	c.(64-66)tCt>tTt	p.S22F	CTSB_ENST00000415599.2_Missense_Mutation_p.S22F|CTSB_ENST00000434271.1_Missense_Mutation_p.S22F|CTSB_ENST00000525076.1_5'UTR|CTSB_ENST00000345125.3_Missense_Mutation_p.S22F|CTSB_ENST00000530640.2_Missense_Mutation_p.S22F|CTSB_ENST00000531089.1_Missense_Mutation_p.S22F|CTSB_ENST00000453527.2_Missense_Mutation_p.S22F|CTSB_ENST00000534510.1_Missense_Mutation_p.S22F|CTSB_ENST00000533455.1_Missense_Mutation_p.S22F	NM_001908.3	NP_001899.1	P07858	CATB_HUMAN	cathepsin B	22					proteolysis|regulation of apoptosis|regulation of catalytic activity	lysosome|melanosome	cysteine-type endopeptidase activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(1)	16	all_epithelial(15;0.205)		STAD - Stomach adenocarcinoma(15;0.00546)	COAD - Colon adenocarcinoma(149;0.184)		GGGATGGAAAGAGGGCCTGCT	0.597													4	80					0	0	1	0	0	A	11710899	G	A	11710899	3	1	458	1	0	0	0	0	1	0	0	0	4054	942	33	2	990	2	CTSB	8	11710899	Missense_Mutation	SNP	G	TCGA-TM-A7C4-01A-11D-A32B-08		11710899	134653123	17	36148											
KCNB2	9312	broad.mit.edu	37	8	73849510	73849510	+	Silent	SNP	A	A	G			TCGA-TM-A7C4-01A-11D-A32B-08	TCGA-TM-A7C4-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce598820-dfa5-4bd2-b776-f805cc61c235	bc73cf39-3071-41de-9dbc-de49be538b78	g.chr8:73849510A>G	ENST00000523207.1	+	3	2508	c.1920A>G	c.(1918-1920)acA>acG	p.T640T		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	640					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)			TCCCAGGGACAGAAGAGCACC	0.602													4	109					0	0	1	0	0	G	73849510	A	G	73849510	2	3	458	1	0	0	0	0	0	0	0	1	8057	175	7	3		3	KCNB2	8	73849510	Silent	SNP	A	TCGA-TM-A7C4-01A-11D-A32B-08	62138611	73849510	72514512	18	36149											
CTBP2	1488	broad.mit.edu	37	10	126727604	126727604	+	Missense_Mutation	SNP	T	T	C	rs78849795		TCGA-TM-A7C4-01A-11D-A32B-08	TCGA-TM-A7C4-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce598820-dfa5-4bd2-b776-f805cc61c235	bc73cf39-3071-41de-9dbc-de49be538b78	g.chr10:126727604T>C	ENST00000337195.5	-	3	419	c.20A>G	c.(19-21)cAc>cGc	p.H7R	CTBP2_ENST00000494626.2_Missense_Mutation_p.H7R|CTBP2_ENST00000476817.1_5'UTR|CTBP2_ENST00000531469.1_Missense_Mutation_p.H7R|CTBP2_ENST00000411419.2_Missense_Mutation_p.H7R	NM_001329.2	NP_001320.1	P56545	CTBP2_HUMAN	C-terminal binding protein 2	7					negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent|viral genome replication|white fat cell differentiation	cell junction|synapse|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)		CTTGACTTTGTGCTTATCCAC	0.453													3	78					0	0	1	0	0	C	126727604	T	C	126727604	3	2	458	1	0	0	0	0	1	0	0	0	4022	1696	59	3	3035	3	CTBP2	10	126727604	Missense_Mutation	SNP	T	TCGA-TM-A7C4-01A-11D-A32B-08		126727604	8807143	19	36150											
COPB1	1315	broad.mit.edu	37	11	14515962	14515962	+	Missense_Mutation	SNP	T	T	C			TCGA-TM-A7C4-01A-11D-A32B-08	TCGA-TM-A7C4-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce598820-dfa5-4bd2-b776-f805cc61c235	bc73cf39-3071-41de-9dbc-de49be538b78	g.chr11:14515962T>C	ENST00000249923.3	-	3	415	c.115A>G	c.(115-117)Act>Gct	p.T39A	COPB1_ENST00000439561.2_Missense_Mutation_p.T39A|PSMA1_ENST00000419365.2_3'UTR|PSMA1_ENST00000555531.1_3'UTR	NM_016451.4	NP_057535.1	P53618	COPB_HUMAN	coatomer protein complex, subunit beta 1	39					COPI coating of Golgi vesicle|interspecies interaction between organisms|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|ER-Golgi intermediate compartment|plasma membrane	protein binding|structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	36						AAAGCTTCAGTCTTTGACTTT	0.289													12	12					0	0	1	0	0	C	14515962	T	C	14515962	3	2	458	1	0	0	0	0	1	0	0	0	3751	1667	58	3	2826	3	COPB1	11	14515962	Missense_Mutation	SNP	T	TCGA-TM-A7C4-01A-11D-A32B-08		14515962	120490554	20	36151											
OR5W2	390148	broad.mit.edu	37	11	55681814	55681814	+	Missense_Mutation	SNP	A	A	G			TCGA-TM-A7C4-01A-11D-A32B-08	TCGA-TM-A7C4-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce598820-dfa5-4bd2-b776-f805cc61c235	bc73cf39-3071-41de-9dbc-de49be538b78	g.chr11:55681814A>G	ENST00000344514.1	-	1	244	c.245T>C	c.(244-246)cTg>cCg	p.L82P		NM_001001960.1	NP_001001960.1	Q8NH69	OR5W2_HUMAN	olfactory receptor, family 5, subfamily W, member 2	82					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(28)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						TAGATCTACCAGCATCTTGGG	0.433													25	45					0	0	1	0	0	G	55681814	A	G	55681814	3	3	458	1	0	0	0	0	1	0	0	0	11232	188	7	3	689	3	OR5W2	11	55681814	Missense_Mutation	SNP	A	TCGA-TM-A7C4-01A-11D-A32B-08	41165852	55681814	79324702	21	36152											
OR4D6	219983	broad.mit.edu	37	11	59225062	59225062	+	Missense_Mutation	SNP	G	G	T			TCGA-TM-A7C4-01A-11D-A32B-08	TCGA-TM-A7C4-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce598820-dfa5-4bd2-b776-f805cc61c235	bc73cf39-3071-41de-9dbc-de49be538b78	g.chr11:59225062G>T	ENST00000300127.2	+	1	652	c.629G>T	c.(628-630)tGg>tTg	p.W210L		NM_001004708.1	NP_001004708.1	Q8NGJ1	OR4D6_HUMAN	olfactory receptor, family 4, subfamily D, member 6	210					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	34						ACCCTGCTCTGGTTCCTCCTG	0.552													18	55					6.94344e-10	7.56339e-10	1	1	0	T	59225062	G	T	59225062	3	4	458	1	0	0	0	0	1	0	0	0	11106	1357	47	5	631	5	OR4D6	11	59225062	Missense_Mutation	SNP	G	TCGA-TM-A7C4-01A-11D-A32B-08	3543248	59225062	75781454	22	36153											
LRRC32	2615	broad.mit.edu	37	11	76371945	76371945	+	Missense_Mutation	SNP	T	T	G			TCGA-TM-A7C4-01A-11D-A32B-08	TCGA-TM-A7C4-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce598820-dfa5-4bd2-b776-f805cc61c235	bc73cf39-3071-41de-9dbc-de49be538b78	g.chr11:76371945T>G	ENST00000407242.2	-	3	934	c.692A>C	c.(691-693)gAg>gCg	p.E231A	LRRC32_ENST00000260061.5_Missense_Mutation_p.E231A|AP001189.4_ENST00000447519.1_RNA|LRRC32_ENST00000464145.1_Intron|LRRC32_ENST00000404995.1_Missense_Mutation_p.E231A	NM_005512.2	NP_005503.1	Q14392	LRC32_HUMAN	leucine rich repeat containing 32	231						integral to plasma membrane				endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1)	31						CTGAAAGGCCTCGATGCTGTT	0.622													19	40					0	0	1	0	0	G	76371945	T	G	76371945	3	3	458	1	0	0	0	0	1	0	0	0	9032	1551	54	5	1300	5	LRRC32	11	76371945	Missense_Mutation	SNP	T	TCGA-TM-A7C4-01A-11D-A32B-08	17146883	76371945	58634571	23	36154											
KRT18	3875	broad.mit.edu	37	12	53344556	53344556	+	Missense_Mutation	SNP	C	C	T			TCGA-TM-A7C4-01A-11D-A32B-08	TCGA-TM-A7C4-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce598820-dfa5-4bd2-b776-f805cc61c235	bc73cf39-3071-41de-9dbc-de49be538b78	g.chr12:53344556C>T	ENST00000550600.1	+	4	577	c.523C>T	c.(523-525)Cgc>Tgc	p.R175C	KRT18_ENST00000388835.3_Missense_Mutation_p.R175C|KRT18_ENST00000388837.2_Missense_Mutation_p.R175C			P05783	K1C18_HUMAN	keratin 18	175	Coil 1B.|Necessary for interaction with PNN.|Rod.				anatomical structure morphogenesis|cell cycle|Golgi to plasma membrane CFTR protein transport|interspecies interaction between organisms|negative regulation of apoptosis	centriolar satellite|keratin filament|perinuclear region of cytoplasm	protein binding|structural molecule activity			central_nervous_system(1)|large_intestine(2)|lung(4)|prostate(3)|skin(1)	11						GCTGGCCATGCGCCAGTCTGT	0.527													4	9					0	0	1	0	0	T	53344556	C	T	53344556	3	4	458	1	0	0	0	0	1	0	0	0	8498	768	27	1	533	1	KRT18	12	53344556	Missense_Mutation	SNP	C	TCGA-TM-A7C4-01A-11D-A32B-08		53344556	80507339	24	36155											
PTPRB	5787	broad.mit.edu	37	12	70956725	70956725	+	Missense_Mutation	SNP	C	C	G			TCGA-TM-A7C4-01A-11D-A32B-08	TCGA-TM-A7C4-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce598820-dfa5-4bd2-b776-f805cc61c235	bc73cf39-3071-41de-9dbc-de49be538b78	g.chr12:70956725C>G	ENST00000334414.6	-	16	4111	c.4067G>C	c.(4066-4068)aGc>aCc	p.S1356T	PTPRB_ENST00000551525.1_Missense_Mutation_p.S1355T|PTPRB_ENST00000550358.1_Missense_Mutation_p.S1268T|PTPRB_ENST00000261266.5_Missense_Mutation_p.S1138T|PTPRB_ENST00000538708.1_Missense_Mutation_p.S1048T|PTPRB_ENST00000550857.1_Missense_Mutation_p.S1048T|PTPRB_ENST00000451516.2_Missense_Mutation_p.S1048T	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1138	Fibronectin type-III 16.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			GAAAGAGAAGCTCTGGACTAG	0.473													27	34					0	0	1	0	0	G	70956725	C	G	70956725	3	3	458	1	0	0	0	0	1	0	0	0	12848	797	28	4	2656	4	PTPRB	12	70956725	Missense_Mutation	SNP	C	TCGA-TM-A7C4-01A-11D-A32B-08	17612169	70956725	62895170	25	36156											
CARS2	79587	broad.mit.edu	37	13	111296777	111296777	+	Silent	SNP	A	A	G			TCGA-TM-A7C4-01A-11D-A32B-08	TCGA-TM-A7C4-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce598820-dfa5-4bd2-b776-f805cc61c235	bc73cf39-3071-41de-9dbc-de49be538b78	g.chr13:111296777A>G	ENST00000257347.4	-	13	1434	c.1371T>C	c.(1369-1371)ttT>ttC	p.F457F	CARS2_ENST00000535398.1_5'UTR	NM_024537.2	NP_078813.1	Q9HA77	SYCM_HUMAN	cysteinyl-tRNA synthetase 2, mitochondrial (putative)	457					cysteinyl-tRNA aminoacylation	cytosol|mitochondrial matrix	ATP binding|cysteine-tRNA ligase activity|metal ion binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|prostate(4)|skin(1)	13	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.163)		L-Cysteine(DB00151)	AAAACTGTTCAAAGTAAGAGA	0.408													22	41					0	0	1	0	0	G	111296777	A	G	111296777	2	3	458	1	0	0	0	0	0	0	0	1	2676	127	5	3		3	CARS2	13	111296777	Silent	SNP	A	TCGA-TM-A7C4-01A-11D-A32B-08		111296777	3873101	26	36157											
TEP1	7011	broad.mit.edu	37	14	20852762	20852762	+	Missense_Mutation	SNP	C	C	T	rs151250357	byFrequency	TCGA-TM-A7C4-01A-11D-A32B-08	TCGA-TM-A7C4-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce598820-dfa5-4bd2-b776-f805cc61c235	bc73cf39-3071-41de-9dbc-de49be538b78	g.chr14:20852762C>T	ENST00000262715.5	-	22	3258	c.3218G>A	c.(3217-3219)cGc>cAc	p.R1073H	TEP1_ENST00000556935.1_Missense_Mutation_p.R965H	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	1073					telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		AGCTCACCTGCGGCAGGTGAT	0.552													71	147					0	0	1	0	0	T	20852762	C	T	20852762	3	4	458	1	0	0	0	0	1	0	0	0	15818	768	27	1	4801	1	TEP1	14	20852762	Missense_Mutation	SNP	C	TCGA-TM-A7C4-01A-11D-A32B-08		20852762	86496778	27	36158											
GTF3C1	2975	broad.mit.edu	37	16	27503949	27503949	+	Missense_Mutation	SNP	C	C	G			TCGA-TM-A7C4-01A-11D-A32B-08	TCGA-TM-A7C4-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce598820-dfa5-4bd2-b776-f805cc61c235	bc73cf39-3071-41de-9dbc-de49be538b78	g.chr16:27503949C>G	ENST00000356183.4	-	18	2977	c.2962G>C	c.(2962-2964)Gat>Cat	p.D988H	GTF3C1_ENST00000561623.1_Missense_Mutation_p.D988H	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	988						transcription factor TFIIIC complex	DNA binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						TGATCTTTATCCTGAAACTTT	0.488													7	134					0	0	1	0	0	G	27503949	C	G	27503949	3	3	458	1	0	0	0	0	1	0	0	0	6913	855	30	5	3447	5	GTF3C1	16	27503949	Missense_Mutation	SNP	C	TCGA-TM-A7C4-01A-11D-A32B-08		27503949	62850804	28	36159											
TP53	7157	broad.mit.edu	37	17	7577115	7577115	+	Missense_Mutation	SNP	A	A	C			TCGA-TM-A7C4-01A-11D-A32B-08	TCGA-TM-A7C4-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce598820-dfa5-4bd2-b776-f805cc61c235	bc73cf39-3071-41de-9dbc-de49be538b78	g.chr17:7577115A>C	ENST00000420246.2	-	8	955	c.823T>G	c.(823-825)Tgt>Ggt	p.C275G	TP53_ENST00000455263.2_Missense_Mutation_p.C275G|TP53_ENST00000445888.2_Missense_Mutation_p.C275G|TP53_ENST00000413465.2_Intron|TP53_ENST00000269305.4_Missense_Mutation_p.C275G|TP53_ENST00000359597.4_Missense_Mutation_p.C275G	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	275	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(8)|p.C275G(7)|p.C275R(7)|p.C275fs*31(2)|p.?(2)|p.C275fs*20(1)|p.L265_K305del41(1)|p.R273_C275delRVC(1)|p.F270_D281del12(1)|p.V274_P278del(1)|p.S269fs*21(1)|p.C275fs*67(1)|p.C275fs*70(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(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)		GGACAGGCACAAACACGCACC	0.552		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)			19	14					0	0	1	0	0	C	7577115	A	C	7577115	3	2	458	1	0	0	0	0	1	0	0	0	16442	130	5	5	463	5	TP53	17	7577115	Missense_Mutation	SNP	A	TCGA-TM-A7C4-01A-11D-A32B-08		7577115	73618095	29	36160											
MYH8	4626	broad.mit.edu	37	17	10300287	10300287	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A7C4-01A-11D-A32B-08	TCGA-TM-A7C4-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce598820-dfa5-4bd2-b776-f805cc61c235	bc73cf39-3071-41de-9dbc-de49be538b78	g.chr17:10300287G>A	ENST00000403437.2	-	31	4289	c.4195C>T	c.(4195-4197)Cgc>Tgc	p.R1399C	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1399					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						TCTTGCAGGCGCTGGGCCAAC	0.493									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				17	32					0	0	1	0	0	A	10300287	G	A	10300287	3	1	458	1	0	0	0	0	1	0	0	0	10089	1087	38	1	1658	1	MYH8	17	10300287	Missense_Mutation	SNP	G	TCGA-TM-A7C4-01A-11D-A32B-08	2723172	10300287	70894923	30	36161											
KRT13	3860	broad.mit.edu	37	17	39659673	39659673	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A7C4-01A-11D-A32B-08	TCGA-TM-A7C4-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce598820-dfa5-4bd2-b776-f805cc61c235	bc73cf39-3071-41de-9dbc-de49be538b78	g.chr17:39659673G>A	ENST00000246635.3	-	3	647	c.601C>T	c.(601-603)Cgc>Tgc	p.R201C	KRT13_ENST00000587544.1_Missense_Mutation_p.R201C|KRT13_ENST00000336861.3_Missense_Mutation_p.R201C	NM_153490.2	NP_705694	P13646	K1C13_HUMAN	keratin 13	201	Coil 1B.|Rod.				epidermis development	intermediate filament	structural molecule activity			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	33		Breast(137;0.000286)				ACGCTCTGGCGCAGGGCCAGC	0.483													27	55					0	0	1	0	0	A	39659673	G	A	39659673	3	1	458	1	0	0	0	0	1	0	0	0	8493	1087	38	1	799	1	KRT13	17	39659673	Missense_Mutation	SNP	G	TCGA-TM-A7C4-01A-11D-A32B-08	29359386	39659673	41535537	31	36162											
KRT15	3866	broad.mit.edu	37	17	39674590	39674590	+	Missense_Mutation	SNP	G	G	A	rs142682445		TCGA-TM-A7C4-01A-11D-A32B-08	TCGA-TM-A7C4-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce598820-dfa5-4bd2-b776-f805cc61c235	bc73cf39-3071-41de-9dbc-de49be538b78	g.chr17:39674590G>A	ENST00000254043.3	-	1	4075	c.490C>T	c.(490-492)Cgg>Tgg	p.R164W	KRT15_ENST00000393981.3_Silent_p.S26S|KRT15_ENST00000393976.2_Missense_Mutation_p.R164W|KRT15_ENST00000393974.3_Silent_p.S26S	NM_002275.3	NP_002266	P19012	K1C15_HUMAN	keratin 15	164	Coil 1B.|Rod.				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16		Breast(137;0.000286)				ACCTTGTCCCGGAGCTCTTCA	0.527													20	42					0	0	1	0	0	A	39674590	G	A	39674590	3	1	458	1	0	0	0	0	1	0	0	0	8495	1115	39	1	912	1	KRT15	17	39674590	Missense_Mutation	SNP	G	TCGA-TM-A7C4-01A-11D-A32B-08	14917	39674590	41520620	32	36163											
CDC27	996	broad.mit.edu	37	17	45234392	45234392	+	Silent	SNP	A	A	G			TCGA-TM-A7C4-01A-11D-A32B-08	TCGA-TM-A7C4-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce598820-dfa5-4bd2-b776-f805cc61c235	bc73cf39-3071-41de-9dbc-de49be538b78	g.chr17:45234392A>G	ENST00000066544.3	-	7	822	c.729T>C	c.(727-729)gaT>gaC	p.D243D	CDC27_ENST00000446365.2_Silent_p.D182D|CDC27_ENST00000527547.1_Silent_p.D243D|CDC27_ENST00000531206.1_Silent_p.D243D	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	243					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						GTGGGACAGTATCAGGTGAAA	0.363													3	56					0	0	1	0	0	G	45234392	A	G	45234392	2	3	458	1	0	0	0	0	0	0	0	1	3088	446	16	3		3	CDC27	17	45234392	Silent	SNP	A	TCGA-TM-A7C4-01A-11D-A32B-08	5559802	45234392	35960818	33	36164											
SERPINB10	5273	broad.mit.edu	37	18	61584738	61584739	+	Frame_Shift_Ins	INS	-	-	A			TCGA-TM-A7C4-01A-11D-A32B-08	TCGA-TM-A7C4-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce598820-dfa5-4bd2-b776-f805cc61c235	bc73cf39-3071-41de-9dbc-de49be538b78	g.chr18:61584738_61584739insA	ENST00000238508.3	+	3	276_277	c.217_218insA	c.(217-219)gaafs	p.E73fs		NM_005024.1	NP_005015.1			serpin peptidase inhibitor, clade B (ovalbumin), member 10									p.R76fs*7(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(3)|stomach(2)	24		Esophageal squamous(42;0.131)				CCCTGAAAGTGAAAAAAAAAGG	0.282													3	6	---	---	---	---						A	61584739	-	A	61584738	7	5	458	1	0	1	1	0	0	0	0	0	14151	1291	45	0	223	0	SERPINB10	18	61584738	Frame_Shift_Ins	INS	-	TCGA-TM-A7C4-01A-11D-A32B-08		61584738	16492510	34	36165											
NOTCH3	4854	broad.mit.edu	37	19	15284920	15284920	+	Silent	SNP	G	G	A			TCGA-TM-A7C4-01A-11D-A32B-08	TCGA-TM-A7C4-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce598820-dfa5-4bd2-b776-f805cc61c235	bc73cf39-3071-41de-9dbc-de49be538b78	g.chr19:15284920G>A	ENST00000263388.2	-	25	4770	c.4695C>T	c.(4693-4695)tcC>tcT	p.S1565S		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	1565					Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			CCCGGGGTTCGGAGCCAGGAC	0.687													22	32					0	0	1	0	0	A	15284920	G	A	15284920	2	1	458	1	0	0	0	0	0	0	0	1	10597	1103	39	1		1	NOTCH3	19	15284920	Silent	SNP	G	TCGA-TM-A7C4-01A-11D-A32B-08		15284920	43844063	35	36166											
ZNF101	94039	broad.mit.edu	37	19	19790321	19790321	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A7C4-01A-11D-A32B-08	TCGA-TM-A7C4-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce598820-dfa5-4bd2-b776-f805cc61c235	bc73cf39-3071-41de-9dbc-de49be538b78	g.chr19:19790321G>A	ENST00000592502.1	+	4	633	c.523G>A	c.(523-525)Ggg>Agg	p.G175R	ZNF101_ENST00000444249.2_3'UTR|ZNF101_ENST00000415784.2_Missense_Mutation_p.G55R			Q8IZC7	ZN101_HUMAN	zinc finger protein 101	175					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)	17						CAAGGTGTGCGGGAAAGCCTT	0.438													45	74					0	0	1	0	0	A	19790321	G	A	19790321	3	1	458	1	0	0	0	0	1	0	0	0	17772	1116	39	1	537	1	ZNF101	19	19790321	Missense_Mutation	SNP	G	TCGA-TM-A7C4-01A-11D-A32B-08	4505401	19790321	39338662	36	36167											
CCDC9	26093	broad.mit.edu	37	19	47774919	47774919	+	Missense_Mutation	SNP	C	C	T			TCGA-TM-A7C4-01A-11D-A32B-08	TCGA-TM-A7C4-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce598820-dfa5-4bd2-b776-f805cc61c235	bc73cf39-3071-41de-9dbc-de49be538b78	g.chr19:47774919C>T	ENST00000221922.6	+	12	1802	c.1580C>T	c.(1579-1581)cCt>cTt	p.P527L		NM_015603.2	NP_056418.1	Q9Y3X0	CCDC9_HUMAN	coiled-coil domain containing 9	527										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|urinary_tract(1)	12		all_cancers(25;0.0432)|all_epithelial(76;0.00812)|Medulloblastoma(540;0.0208)|all_neural(266;0.0416)|Hepatocellular(1079;0.114)		OV - Ovarian serous cystadenocarcinoma(262;8.51e-95)|Epithelial(262;1.15e-92)|all cancers(93;7.67e-84)|GBM - Glioblastoma multiforme(486;0.024)|STAD - Stomach adenocarcinoma(1328;0.183)		GAGGCCTGGCCTTTTGAGAGT	0.652													12	27					0	0	1	0	0	T	47774919	C	T	47774919	3	4	458	1	0	0	0	0	1	0	0	0	2887	681	24	2	1622	2	CCDC9	19	47774919	Missense_Mutation	SNP	C	TCGA-TM-A7C4-01A-11D-A32B-08	27984598	47774919	11354064	37	36168											
TP53TG5	27296	broad.mit.edu	37	20	44004019	44004019	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A7C4-01A-11D-A32B-08	TCGA-TM-A7C4-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce598820-dfa5-4bd2-b776-f805cc61c235	bc73cf39-3071-41de-9dbc-de49be538b78	g.chr20:44004019G>A	ENST00000372726.3	-	4	584	c.428C>T	c.(427-429)aCg>aTg	p.T143M	TP53TG5_ENST00000537995.1_Missense_Mutation_p.T127M|SYS1-DBNDD2_ENST00000475242.1_Intron|SYS1-DBNDD2_ENST00000452133.1_Intron|SYS1_ENST00000426004.1_3'UTR	NM_014477.2	NP_055292.1	Q9Y2B4	T53G5_HUMAN	TP53 target 5	143					intracellular signal transduction|negative regulation of cell growth	cytoplasm|nucleus				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)	12						CGCCAATGACGTTTTCTCCTT	0.502													52	175					0	0	1	0	0	A	44004019	G	A	44004019	3	1	458	1	0	0	0	0	1	0	0	0	16452	1145	40	1	452	1	TP53TG5	20	44004019	Missense_Mutation	SNP	G	TCGA-TM-A7C4-01A-11D-A32B-08		44004019	19021501	38	36169											
NHS	4810	broad.mit.edu	37	X	17750478	17750478	+	Missense_Mutation	SNP	T	T	C			TCGA-TM-A7C4-01A-11D-A32B-08	TCGA-TM-A7C4-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce598820-dfa5-4bd2-b776-f805cc61c235	bc73cf39-3071-41de-9dbc-de49be538b78	g.chrX:17750478T>C	ENST00000380060.3	+	8	5125	c.4787T>C	c.(4786-4788)gTc>gCc	p.V1596A	NHS_ENST00000398097.3_Missense_Mutation_p.V1440A	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	1596						nucleus				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					CGCTACAGTGTCCGCTGCCGG	0.587													30	63					0	0	1	0	0	C	17750478	T	C	17750478	3	2	458	1	0	0	0	0	1	0	0	0	10458	1667	58	3	4922	3	NHS	23	17750478	Missense_Mutation	SNP	T	TCGA-TM-A7C4-01A-11D-A32B-08		17750478	137520082	39	36170											
CDKL5	6792	broad.mit.edu	37	X	18600037	18600037	+	Missense_Mutation	SNP	A	A	G			TCGA-TM-A7C4-01A-11D-A32B-08	TCGA-TM-A7C4-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce598820-dfa5-4bd2-b776-f805cc61c235	bc73cf39-3071-41de-9dbc-de49be538b78	g.chrX:18600037A>G	ENST00000379989.3	+	8	715	c.430A>G	c.(430-432)Agc>Ggc	p.S144G	CDKL5_ENST00000379996.3_Missense_Mutation_p.S144G	NM_001037343.1	NP_001032420.1	O76039	CDKL5_HUMAN	cyclin-dependent kinase-like 5	144	Protein kinase.				neuron migration|positive regulation of axon extension|positive regulation of dendrite morphogenesis|positive regulation of Rac GTPase activity|protein autophosphorylation	dendrite cytoplasm|dendritic growth cone|nucleus	ATP binding|cyclin-dependent protein kinase activity|Rac GTPase binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1)	44	Hepatocellular(33;0.183)					TCTCTTAATCAGCCACAATGA	0.303													34	77					0	0	1	0	0	G	18600037	A	G	18600037	3	3	458	1	0	0	0	0	1	0	0	0	3179	188	7	3	452	3	CDKL5	23	18600037	Missense_Mutation	SNP	A	TCGA-TM-A7C4-01A-11D-A32B-08	849559	18600037	136670523	40	36171											
CLCN5	1184	broad.mit.edu	37	X	49851229	49851229	+	Missense_Mutation	SNP	C	C	T			TCGA-TM-A7C4-01A-11D-A32B-08	TCGA-TM-A7C4-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce598820-dfa5-4bd2-b776-f805cc61c235	bc73cf39-3071-41de-9dbc-de49be538b78	g.chrX:49851229C>T	ENST00000376088.3	+	11	1900	c.1259C>T	c.(1258-1260)aCc>aTc	p.T420I	CLCN5_ENST00000376091.3_Missense_Mutation_p.T420I|CLCN5_ENST00000376108.3_Missense_Mutation_p.T350I|CLCN5_ENST00000307367.2_Missense_Mutation_p.T350I	NM_001127898.1|NM_001127899.1	NP_001121370.1|NP_001121371.1	P51795	CLCN5_HUMAN	chloride channel, voltage-sensitive 5	350					excretion	apical part of cell|endosome membrane|Golgi membrane|integral to plasma membrane	antiporter activity|ATP binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)	30	Ovarian(276;0.236)					CGAAAGACCACCCAGTTGGGC	0.512													19	34					0	0	1	0	0	T	49851229	C	T	49851229	3	4	458	1	0	0	0	0	1	0	0	0	3489	507	18	2	1293	2	CLCN5	23	49851229	Missense_Mutation	SNP	C	TCGA-TM-A7C4-01A-11D-A32B-08	31251192	49851229	105419331	41	36172											
ATRX	546	broad.mit.edu	37	X	76920261	76920261	+	Silent	SNP	G	G	T			TCGA-TM-A7C4-01A-11D-A32B-08	TCGA-TM-A7C4-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce598820-dfa5-4bd2-b776-f805cc61c235	bc73cf39-3071-41de-9dbc-de49be538b78	g.chrX:76920261G>T	ENST00000373344.5	-	11	4030	c.3816C>A	c.(3814-3816)gcC>gcA	p.A1272A	ATRX_ENST00000395603.3_Silent_p.A1234A|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1272					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)	GCATCTTCTTGGCAATTCTTG	0.318			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						14	35					4.3838e-07	4.5324e-07	1	1	0	T	76920261	G	T	76920261	2	4	458	1	0	0	0	0	0	0	0	1	1206	1335	47	5		5	ATRX	23	76920261	Silent	SNP	G	TCGA-TM-A7C4-01A-11D-A32B-08	27069032	76920261	78350299	42	36173											
ATRX	546	broad.mit.edu	37	X	76940430	76940430	+	Splice_Site	SNP	C	C	T			TCGA-TM-A7C4-01A-11D-A32B-08	TCGA-TM-A7C4-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce598820-dfa5-4bd2-b776-f805cc61c235	bc73cf39-3071-41de-9dbc-de49be538b78	g.chrX:76940430C>T	ENST00000373344.5	-	8	877		c.e8+1		ATRX_ENST00000395603.3_Splice_Site|ATRX_ENST00000480283.1_Splice_Site	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked						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)	ATATTACCTACCTACATTGTT	0.328			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						21	84					0	0	1	0	0	T	76940430	C	T	76940430	5	4	458	1	0	0	0	0	0	0	1	0	1206	521	18	2	6927	2	ATRX	23	76940430	Splice_Site	SNP	C	TCGA-TM-A7C4-01A-11D-A32B-08	20169	76940430	78330130	43	36174											
RPS6KA6	27330	broad.mit.edu	37	X	83442862	83442862	+	Missense_Mutation	SNP	C	C	G			TCGA-TM-A7C4-01A-11D-A32B-08	TCGA-TM-A7C4-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce598820-dfa5-4bd2-b776-f805cc61c235	bc73cf39-3071-41de-9dbc-de49be538b78	g.chrX:83442862C>G	ENST00000262752.2	-	1	53	c.46G>C	c.(46-48)Gaa>Caa	p.E16Q	RPS6KA6_ENST00000543399.1_5'UTR	NM_014496.4	NP_055311.1	Q9UK32	KS6A6_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 6	16					axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						CTGAACACTTCCATTTCTCGG	0.667													8	17					0	0	1	0	0	G	83442862	C	G	83442862	3	3	458	1	0	0	0	0	1	0	0	0	13707	864	30	5	2279	5	RPS6KA6	23	83442862	Missense_Mutation	SNP	C	TCGA-TM-A7C4-01A-11D-A32B-08	6502432	83442862	71827698	44	36175											
SLC35A3	23443	broad.mit.edu	37	1	100477024	100477024	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A7C5-01A-11D-A32B-08	TCGA-TM-A7C5-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64adb394-e415-4156-929b-da1b13c26af4	474aa4ed-af9d-4973-965e-d1217db30a43	g.chr1:100477024G>A	ENST00000465289.1	+	5	961	c.569G>A	c.(568-570)gGg>gAg	p.G190E	SLC35A3_ENST00000370153.1_Missense_Mutation_p.G232E|SLC35A3_ENST00000427993.2_Missense_Mutation_p.G190E|SLC35A3_ENST00000370156.3_3'UTR|SLC35A3_ENST00000370155.3_Missense_Mutation_p.G190E	NM_001271684.1	NP_001258613.1	Q9Y2D2	S35A3_HUMAN	solute carrier family 35 (UDP-N-acetylglucosamine (UDP-GlcNAc) transporter), member A3	190					UDP-N-acetylglucosamine metabolic process	Golgi membrane|integral to membrane	sugar:hydrogen symporter activity|UDP-N-acetylglucosamine transmembrane transporter activity	p.G190E(1)		biliary_tract(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	11		all_epithelial(167;0.000686)|all_lung(203;0.0154)|Lung NSC(277;0.0155)		Epithelial(280;0.124)|all cancers(265;0.198)|Lung(183;0.199)		GGCTTTGCTGGGGTTTACTTT	0.338													12	25					0	0	1	0	0	A	100477024	G	A	100477024	3	1	459	1	0	0	0	0	1	0	0	0	14627	1232	43	2	583	2	SLC35A3	1	100477024	Missense_Mutation	SNP	G	TCGA-TM-A7C5-01A-11D-A32B-08		100477024	148773597	1	36176											
FMN2	56776	broad.mit.edu	37	1	240371406	240371406	+	Silent	SNP	T	T	A			TCGA-TM-A7C5-01A-11D-A32B-08	TCGA-TM-A7C5-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64adb394-e415-4156-929b-da1b13c26af4	474aa4ed-af9d-4973-965e-d1217db30a43	g.chr1:240371406T>A	ENST00000319653.9	+	5	3524	c.3294T>A	c.(3292-3294)ccT>ccA	p.P1098P		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1098	FH1.|Pro-rich.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			GCATACCCCCTCCGCCCCCTC	0.731													5	19					0	0	1	0	0	A	240371406	T	A	240371406	2	1	459	1	0	0	0	0	0	0	0	1	5983	1538	54	5		5	FMN2	1	240371406	Silent	SNP	T	TCGA-TM-A7C5-01A-11D-A32B-08	139894382	240371406	8879215	2	36177											
LCT	3938	broad.mit.edu	37	2	136569943	136569943	+	Missense_Mutation	SNP	T	T	A			TCGA-TM-A7C5-01A-11D-A32B-08	TCGA-TM-A7C5-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64adb394-e415-4156-929b-da1b13c26af4	474aa4ed-af9d-4973-965e-d1217db30a43	g.chr2:136569943T>A	ENST00000264162.2	-	7	2301	c.2291A>T	c.(2290-2292)aAt>aTt	p.N764I		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	764	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		ATCAAAGAGATTTTCACTTTC	0.433													19	160					0	0	1	0	0	A	136569943	T	A	136569943	3	1	459	1	0	0	0	0	1	0	0	0	8732	1493	52	4	3536	4	LCT	2	136569943	Missense_Mutation	SNP	T	TCGA-TM-A7C5-01A-11D-A32B-08		136569943	106629430	3	36178											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-TM-A7C5-01A-11D-A32B-08	TCGA-TM-A7C5-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64adb394-e415-4156-929b-da1b13c26af4	474aa4ed-af9d-4973-965e-d1217db30a43	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								23	32					0	0	1	0	0	T	209113112	C	T	209113112	3	4	459	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-TM-A7C5-01A-11D-A32B-08	72543169	209113112	34086261	4	36179											
XRCC5	7520	broad.mit.edu	37	2	216977761	216977761	+	Missense_Mutation	SNP	A	A	G			TCGA-TM-A7C5-01A-11D-A32B-08	TCGA-TM-A7C5-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64adb394-e415-4156-929b-da1b13c26af4	474aa4ed-af9d-4973-965e-d1217db30a43	g.chr2:216977761A>G	ENST00000392133.3	+	4	505	c.44A>G	c.(43-45)gAc>gGc	p.D15G	XRCC5_ENST00000392132.2_Missense_Mutation_p.D15G			P13010	XRCC5_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining)	15				MDV -> YSY (in Ref. 10; AA sequence).	double-strand break repair via nonhomologous end joining|initiation of viral infection|negative regulation of transcription, DNA-dependent|provirus integration|telomere maintenance|transcription, DNA-dependent	Ku70:Ku80 complex|nonhomologous end joining complex|nuclear telomere cap complex|nucleoplasm	ATP binding|ATP-dependent DNA helicase activity|double-stranded DNA binding|protein C-terminus binding|telomeric DNA binding|transcription regulatory region DNA binding			endometrium(1)|kidney(3)|large_intestine(8)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		Renal(323;0.0328)		Epithelial(149;9.78e-06)|all cancers(144;0.000632)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.0117)		CTGTGTATGGACGTGGGCTTT	0.408								Non-homologous end-joining					54	70					0	0	1	0	0	G	216977761	A	G	216977761	3	3	459	1	0	0	0	0	1	0	0	0	17516	275	10	3	50	3	XRCC5	2	216977761	Missense_Mutation	SNP	A	TCGA-TM-A7C5-01A-11D-A32B-08	7864649	216977761	26221612	5	36180											
COL4A4	1286	broad.mit.edu	37	2	227886828	227886828	+	Silent	SNP	C	C	T	rs75398993	by1000genomes	TCGA-TM-A7C5-01A-11D-A32B-08	TCGA-TM-A7C5-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64adb394-e415-4156-929b-da1b13c26af4	474aa4ed-af9d-4973-965e-d1217db30a43	g.chr2:227886828C>T	ENST00000396625.3	-	44	4359	c.4152G>A	c.(4150-4152)gcG>gcA	p.A1384A	COL4A4_ENST00000329662.7_Silent_p.A1381A	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	1384	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		TCATGCCTGGCGCCCCAGGAA	0.567													79	168					0	0	1	0	0	T	227886828	C	T	227886828	2	4	459	1	0	0	0	0	0	0	0	1	3716	755	27	1		1	COL4A4	2	227886828	Silent	SNP	C	TCGA-TM-A7C5-01A-11D-A32B-08	10909067	227886828	15312545	6	36181											
RTP3	83597	broad.mit.edu	37	3	46542360	46542360	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A7C5-01A-11D-A32B-08	TCGA-TM-A7C5-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64adb394-e415-4156-929b-da1b13c26af4	474aa4ed-af9d-4973-965e-d1217db30a43	g.chr3:46542360G>A	ENST00000296142.3	+	2	1242	c.670G>A	c.(670-672)Gtg>Atg	p.V224M		NM_031440.1	NP_113628.1	Q9BQQ7	RTP3_HUMAN	receptor (chemosensory) transporter protein 3	224					detection of chemical stimulus involved in sensory perception of bitter taste|protein targeting to membrane	cytoplasm|integral to membrane	protein binding			endometrium(1)|lung(4)|ovary(3)|prostate(1)|urinary_tract(1)	10				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0173)|Kidney(197;0.0204)		CATTGTTATCGTGGTGATTGT	0.378													16	54					0	0	1	0	0	A	46542360	G	A	46542360	3	1	459	1	0	0	0	0	1	0	0	0	13787	1145	40	1	676	1	RTP3	3	46542360	Missense_Mutation	SNP	G	TCGA-TM-A7C5-01A-11D-A32B-08		46542360	151480070	7	36182											
METTL14	57721	broad.mit.edu	37	4	119626790	119626790	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A7C5-01A-11D-A32B-08	TCGA-TM-A7C5-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64adb394-e415-4156-929b-da1b13c26af4	474aa4ed-af9d-4973-965e-d1217db30a43	g.chr4:119626790G>A	ENST00000388822.5	+	10	1047	c.880G>A	c.(880-882)Gga>Aga	p.G294R	METTL14_ENST00000506780.1_Missense_Mutation_p.G256R			Q9HCE5	MTL14_HUMAN	methyltransferase like 14							nucleus	mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|stomach(1)	16						GGGGATCAAAGGAACTGTGAA	0.388													10	56					0	0	1	0	0	A	119626790	G	A	119626790	3	1	459	1	0	0	0	0	1	0	0	0	9548	1001	35	2	918	2	METTL14	4	119626790	Missense_Mutation	SNP	G	TCGA-TM-A7C5-01A-11D-A32B-08		119626790	71527486	8	36183											
SLC12A7	10723	broad.mit.edu	37	5	1057736	1057736	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A7C5-01A-11D-A32B-08	TCGA-TM-A7C5-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64adb394-e415-4156-929b-da1b13c26af4	474aa4ed-af9d-4973-965e-d1217db30a43	g.chr5:1057736G>A	ENST00000264930.5	-	22	2919	c.2876C>T	c.(2875-2877)gCg>gTg	p.A959V		NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 7	959					potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	GGTGTGGGACGCGGTGTTCCT	0.662													17	175					0	0	1	0	0	A	1057736	G	A	1057736	3	1	459	1	0	0	0	0	1	0	0	0	14443	1087	38	1	387	1	SLC12A7	5	1057736	Missense_Mutation	SNP	G	TCGA-TM-A7C5-01A-11D-A32B-08		1057736	179857524	9	36184											
HOMER1	9456	broad.mit.edu	37	5	78752755	78752755	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A7C5-01A-11D-A32B-08	TCGA-TM-A7C5-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64adb394-e415-4156-929b-da1b13c26af4	474aa4ed-af9d-4973-965e-d1217db30a43	g.chr5:78752755G>A	ENST00000334082.6	-	2	1534	c.92C>T	c.(91-93)gCa>gTa	p.A31V	HOMER1_ENST00000282260.6_Missense_Mutation_p.A31V|HOMER1_ENST00000535690.1_Intron|HOMER1_ENST00000508576.1_Missense_Mutation_p.A31V	NM_004272.3	NP_004263.1	Q86YM7	HOME1_HUMAN	homer homolog 1 (Drosophila)	31	WH1.				activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic density|postsynaptic membrane				endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|prostate(2)|skin(1)	14		Lung NSC(167;0.00131)|all_lung(232;0.00151)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;1.87e-44)|Epithelial(54;7.07e-41)|all cancers(79;5.5e-36)		CACAGTAACTGCATGCTTGCT	0.423													4	206					0	0	1	0	0	A	78752755	G	A	78752755	3	1	459	1	0	0	0	0	1	0	0	0	7319	1319	46	2	1004	2	HOMER1	5	78752755	Missense_Mutation	SNP	G	TCGA-TM-A7C5-01A-11D-A32B-08	77695019	78752755	102162505	10	36185											
NR2F1	7025	broad.mit.edu	37	5	92929289	92929289	+	Missense_Mutation	SNP	C	C	T			TCGA-TM-A7C5-01A-11D-A32B-08	TCGA-TM-A7C5-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64adb394-e415-4156-929b-da1b13c26af4	474aa4ed-af9d-4973-965e-d1217db30a43	g.chr5:92929289C>T	ENST00000327111.3	+	3	2700	c.1013C>T	c.(1012-1014)gCg>gTg	p.A338V	NR2F1_ENST00000506162.1_3'UTR	NM_005654.4	NP_005645.1	P10589	COT1_HUMAN	nuclear receptor subfamily 2, group F, member 1	338					negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|large_intestine(6)|lung(2)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	21		all_cancers(142;1.62e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0416)|all cancers(79;9.57e-18)		CTGTCGGATGCGGCCCACATC	0.592													4	201					0	0	1	0	0	T	92929289	C	T	92929289	3	4	459	1	0	0	0	0	1	0	0	0	10675	768	27	1	1023	1	NR2F1	5	92929289	Missense_Mutation	SNP	C	TCGA-TM-A7C5-01A-11D-A32B-08	14176534	92929289	87985971	11	36186											
FAM172A	83989	broad.mit.edu	37	5	93386527	93386527	+	Nonsense_Mutation	SNP	A	A	C			TCGA-TM-A7C5-01A-11D-A32B-08	TCGA-TM-A7C5-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64adb394-e415-4156-929b-da1b13c26af4	474aa4ed-af9d-4973-965e-d1217db30a43	g.chr5:93386527A>C	ENST00000395965.3	-	4	360	c.218T>G	c.(217-219)tTa>tGa	p.L73*	FAM172A_ENST00000504768.2_5'UTR|FAM172A_ENST00000505869.1_Nonsense_Mutation_p.L27*|FAM172A_ENST00000509739.1_Intron|FAM172A_ENST00000509163.1_Nonsense_Mutation_p.L27*	NM_032042.5	NP_114431.2	Q8WUF8	F172A_HUMAN	family with sequence similarity 172, member A	73						endoplasmic reticulum|extracellular region				endometrium(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	9						TATGTGTCTTAACTGTCCCTC	0.328													62	72					0	0	1	0	0	C	93386527	A	C	93386527	4	2	459	1	0	0	0	0	0	1	0	0	5522	372	13	5	1064	5	FAM172A	5	93386527	Nonsense_Mutation	SNP	A	TCGA-TM-A7C5-01A-11D-A32B-08	457238	93386527	87528733	12	36187											
PCDHGB4	8641	broad.mit.edu	37	5	140769051	140769051	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A7C5-01A-11D-A32B-08	TCGA-TM-A7C5-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64adb394-e415-4156-929b-da1b13c26af4	474aa4ed-af9d-4973-965e-d1217db30a43	g.chr5:140769051G>A	ENST00000519479.1	+	1	1600	c.1600G>A	c.(1600-1602)Gac>Aac	p.D534N	PCDHGB1_ENST00000523390.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_003736.2|NM_018925.2|NM_032098.1	NP_003727.1|NP_061748.1|NP_115269.1														endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2)	37			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCAGGCCCGCGACCAGGGCTC	0.682													12	31					0	0	1	0	0	A	140769051	G	A	140769051	3	1	459	1	0	0	0	0	1	0	0	0	11612	1058	37	1	1602	1	PCDHGB4	5	140769051	Missense_Mutation	SNP	G	TCGA-TM-A7C5-01A-11D-A32B-08	47382524	140769051	40146209	13	36188											
HIST1H2BB	3018	broad.mit.edu	37	6	26043725	26043725	+	Missense_Mutation	SNP	C	C	T			TCGA-TM-A7C5-01A-11D-A32B-08	TCGA-TM-A7C5-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64adb394-e415-4156-929b-da1b13c26af4	474aa4ed-af9d-4973-965e-d1217db30a43	g.chr6:26043725C>T	ENST00000357905.2	-	1	160	c.161G>A	c.(160-162)gGc>gAc	p.G54D		NM_021062.2	NP_066406.1	P33778	H2B1B_HUMAN	histone cluster 1, H2bb	54					nucleosome assembly	nucleosome|nucleus	DNA binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7						GGATGAGATGCCGGTGTCGGG	0.547													5	234					0	0	1	0	0	T	26043725	C	T	26043725	3	4	459	1	0	0	0	0	1	0	0	0	7182	739	26	2	223	2	HIST1H2BB	6	26043725	Missense_Mutation	SNP	C	TCGA-TM-A7C5-01A-11D-A32B-08		26043725	145071342	14	36189											
HIST1H1E	3008	broad.mit.edu	37	6	26156983	26156984	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-TM-A7C5-01A-11D-A32B-08	TCGA-TM-A7C5-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64adb394-e415-4156-929b-da1b13c26af4	474aa4ed-af9d-4973-965e-d1217db30a43	g.chr6:26156983_26156984delAG	ENST00000304218.3	+	1	425_426	c.365_366delAG	c.(364-366)aagfs	p.K122fs		NM_005321.2	NP_005312.1	P10412	H14_HUMAN	histone cluster 1, H1e	122					nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding			NS(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	26						AAGGCTAAAAAGGCAGGCGCGG	0.639													7	45	---	---	---	---						-	26156984	AG	-	26156983	7	5	459	1	0	1	0	1	0	0	0	0	7167	72	3	0	367	0	HIST1H1E	6	26156983	Frame_Shift_Del	DEL	AG	TCGA-TM-A7C5-01A-11D-A32B-08	113258	26156983	144958084	15	36190											
NDUFAF4	29078	broad.mit.edu	37	6	97344686	97344686	+	Missense_Mutation	SNP	A	A	T			TCGA-TM-A7C5-01A-11D-A32B-08	TCGA-TM-A7C5-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64adb394-e415-4156-929b-da1b13c26af4	474aa4ed-af9d-4973-965e-d1217db30a43	g.chr6:97344686A>T	ENST00000316149.7	-	2	253	c.174T>A	c.(172-174)gaT>gaA	p.D58E	NDUFAF4_ENST00000489477.1_5'UTR	NM_014165.3	NP_054884.1	Q9P032	NDUF4_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 4	58					mitochondrial respiratory chain complex I assembly	mitochondrial membrane	calmodulin binding			large_intestine(5)|lung(3)|ovary(1)|skin(1)	10						GCAGCTTTTCATCTTTACGAG	0.333													10	143					0	0	1	0	0	T	97344686	A	T	97344686	3	4	459	1	0	0	0	0	1	0	0	0	10324	214	8	4	361	4	NDUFAF4	6	97344686	Missense_Mutation	SNP	A	TCGA-TM-A7C5-01A-11D-A32B-08	71187703	97344686	73770381	16	36191											
UTRN	7402	broad.mit.edu	37	6	144835835	144835835	+	Missense_Mutation	SNP	G	G	A	rs115466543	by1000genomes	TCGA-TM-A7C5-01A-11D-A32B-08	TCGA-TM-A7C5-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64adb394-e415-4156-929b-da1b13c26af4	474aa4ed-af9d-4973-965e-d1217db30a43	g.chr6:144835835G>A	ENST00000367545.3	+	36	5123	c.5123G>A	c.(5122-5124)cGc>cAc	p.R1708H		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	1708	Interaction with SYNM.				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		GAAAATGTCCGCGATCAAGCC	0.413													29	156					0	0	1	0	0	A	144835835	G	A	144835835	3	1	459	1	0	0	0	0	1	0	0	0	17163	1087	38	1	5265	1	UTRN	6	144835835	Missense_Mutation	SNP	G	TCGA-TM-A7C5-01A-11D-A32B-08	47491149	144835835	26279232	17	36192											
CRHR2	1395	broad.mit.edu	37	7	30693212	30693212	+	Missense_Mutation	SNP	C	C	T			TCGA-TM-A7C5-01A-11D-A32B-08	TCGA-TM-A7C5-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64adb394-e415-4156-929b-da1b13c26af4	474aa4ed-af9d-4973-965e-d1217db30a43	g.chr7:30693212C>T	ENST00000471646.1	-	12	1517	c.1100G>A	c.(1099-1101)cGc>cAc	p.R367H	CRHR2_ENST00000506074.2_3'UTR|CRHR2_ENST00000341843.4_Missense_Mutation_p.R353H|CRHR2_ENST00000348438.4_Missense_Mutation_p.R394H	NM_001202482.1|NM_001202483.1|NM_001883.4	NP_001189411.1|NP_001189412.1|NP_001874.2	Q13324	CRFR2_HUMAN	corticotropin releasing hormone receptor 2	367					G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	corticotrophin-releasing factor receptor activity|protein binding	p.R367H(1)		breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CACGGCTGAGCGCACCTGTGG	0.642													11	54					0	0	1	0	0	T	30693212	C	T	30693212	3	4	459	1	0	0	0	0	1	0	0	0	3895	768	27	1	139	1	CRHR2	7	30693212	Missense_Mutation	SNP	C	TCGA-TM-A7C5-01A-11D-A32B-08		30693212	128445451	18	36193											
EPHB4	2050	broad.mit.edu	37	7	100421309	100421309	+	Missense_Mutation	SNP	G	G	T			TCGA-TM-A7C5-01A-11D-A32B-08	TCGA-TM-A7C5-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64adb394-e415-4156-929b-da1b13c26af4	474aa4ed-af9d-4973-965e-d1217db30a43	g.chr7:100421309G>T	ENST00000358173.3	-	3	836	c.368C>A	c.(367-369)gCc>gAc	p.A123D	EPHB4_ENST00000477446.1_5'UTR|EPHB4_ENST00000360620.3_Missense_Mutation_p.A123D	NM_004444.4	NP_004435.3	P54760	EPHB4_HUMAN	EPH receptor B4	123					cell proliferation|organ morphogenesis|regulation of angiogenesis	cell surface|integral to plasma membrane	ATP binding|ephrin receptor activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47	Lung NSC(181;0.041)|all_lung(186;0.0581)					GAGGGCCGTGGCCGTGTCCGC	0.647													28	37					2.61193e-14	2.67267e-14	1	1	0	T	100421309	G	T	100421309	3	4	459	1	0	0	0	0	1	0	0	0	5205	1203	42	5	2655	5	EPHB4	7	100421309	Missense_Mutation	SNP	G	TCGA-TM-A7C5-01A-11D-A32B-08	69728097	100421309	58717354	19	36194											
TOX	9760	broad.mit.edu	37	8	59750659	59750659	+	Nonsense_Mutation	SNP	A	A	C			TCGA-TM-A7C5-01A-11D-A32B-08	TCGA-TM-A7C5-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64adb394-e415-4156-929b-da1b13c26af4	474aa4ed-af9d-4973-965e-d1217db30a43	g.chr8:59750659A>C	ENST00000361421.1	-	5	1125	c.905T>G	c.(904-906)tTa>tGa	p.L302*		NM_014729.2	NP_055544.1	O94900	TOX_HUMAN	thymocyte selection-associated high mobility group box	302						nucleus	DNA binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(13)|prostate(1)|skin(2)|stomach(1)	33		all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607)				CTCTTCTCCTAAACCGTCCCA	0.483													43	45					0	0	1	0	0	C	59750659	A	C	59750659	4	2	459	1	0	0	0	0	0	1	0	0	16438	372	13	5	695	5	TOX	8	59750659	Nonsense_Mutation	SNP	A	TCGA-TM-A7C5-01A-11D-A32B-08		59750659	86613363	20	36195											
SHC3	53358	broad.mit.edu	37	9	91727511	91727511	+	Missense_Mutation	SNP	T	T	C			TCGA-TM-A7C5-01A-11D-A32B-08	TCGA-TM-A7C5-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64adb394-e415-4156-929b-da1b13c26af4	474aa4ed-af9d-4973-965e-d1217db30a43	g.chr9:91727511T>C	ENST00000375835.4	-	2	811	c.505A>G	c.(505-507)Atg>Gtg	p.M169V	SHC3_ENST00000375830.1_5'UTR	NM_016848.5	NP_058544.3	Q92529	SHC3_HUMAN	SHC (Src homology 2 domain containing) transforming protein 3	169	PID.				central nervous system development|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	protein binding|signal transducer activity			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|skin(3)	28						AGAGACCTCATTGAGCGCAGA	0.413													32	61					0	0	1	0	0	C	91727511	T	C	91727511	3	2	459	1	0	0	0	0	1	0	0	0	14327	1493	52	3	1323	3	SHC3	9	91727511	Missense_Mutation	SNP	T	TCGA-TM-A7C5-01A-11D-A32B-08		91727511	49485920	21	36196											
PALM2-AKAP2	445815	broad.mit.edu	37	9	112918685	112918685	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A7C5-01A-11D-A32B-08	TCGA-TM-A7C5-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64adb394-e415-4156-929b-da1b13c26af4	474aa4ed-af9d-4973-965e-d1217db30a43	g.chr9:112918685G>A	ENST00000374530.3	+	9	3262	c.3082G>A	c.(3082-3084)Gga>Aga	p.G1028R	AKAP2_ENST00000434623.2_Missense_Mutation_p.G886R|PALM2-AKAP2_ENST00000302798.7_Missense_Mutation_p.G1028R|AKAP2_ENST00000555236.1_Missense_Mutation_p.G1028R|AKAP2_ENST00000510514.5_Missense_Mutation_p.G1028R|AKAP2_ENST00000374525.1_Missense_Mutation_p.G886R|AKAP2_ENST00000482335.1_Intron|AKAP2_ENST00000259318.7_Missense_Mutation_p.G797R	NM_007203.4|NM_147150.2	NP_009134.1|NP_671492.1	Q9Y2D5	AKAP2_HUMAN		797							enzyme binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	44						AGAGGCTGCCGGAACCCAGCG	0.507													13	59					0	0	1	0	0	A	112918685	G	A	112918685	3	1	459	1	0	0	0	0	1	0	0	0	11457	1117	39	1	3116	1	PALM2-AKAP2	9	112918685	Missense_Mutation	SNP	G	TCGA-TM-A7C5-01A-11D-A32B-08	21191174	112918685	28294746	22	36197											
SVEP1	79987	broad.mit.edu	37	9	113238566	113238566	+	Silent	SNP	G	G	A			TCGA-TM-A7C5-01A-11D-A32B-08	TCGA-TM-A7C5-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64adb394-e415-4156-929b-da1b13c26af4	474aa4ed-af9d-4973-965e-d1217db30a43	g.chr9:113238566G>A	ENST00000401783.2	-	14	2853	c.2517C>T	c.(2515-2517)gaC>gaT	p.D839D	SVEP1_ENST00000374469.1_Silent_p.D816D|SVEP1_ENST00000374461.1_Silent_p.D816D|SVEP1_ENST00000302728.8_Silent_p.D839D|SVEP1_ENST00000467821.1_5'UTR	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	839					cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						TGCAGTCAATGTCCTCTGCAT	0.373													20	101					0	0	1	0	0	A	113238566	G	A	113238566	2	1	459	1	0	0	0	0	0	0	0	1	15476	1368	48	2		2	SVEP1	9	113238566	Silent	SNP	G	TCGA-TM-A7C5-01A-11D-A32B-08	319881	113238566	27974865	23	36198											
LATS2	26524	broad.mit.edu	37	13	21557518	21557518	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A7C5-01A-11D-A32B-08	TCGA-TM-A7C5-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64adb394-e415-4156-929b-da1b13c26af4	474aa4ed-af9d-4973-965e-d1217db30a43	g.chr13:21557518G>A	ENST00000382592.4	-	5	2732	c.2327C>T	c.(2326-2328)aCt>aTt	p.T776I	LATS2_ENST00000542899.1_Missense_Mutation_p.T776I	NM_014572.2	NP_055387.2	Q9NRM7	LATS2_HUMAN	large tumor suppressor kinase 2	776	Protein kinase.				cell division|G1/S transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|intracellular protein kinase cascade|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity	microtubule organizing center|nucleus|spindle pole	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2)	45		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)		AATGGCCAAAGTCAGCTCTGC	0.502													3	47					0	0	1	0	0	A	21557518	G	A	21557518	3	1	459	1	0	0	0	0	1	0	0	0	8686	1029	36	2	955	2	LATS2	13	21557518	Missense_Mutation	SNP	G	TCGA-TM-A7C5-01A-11D-A32B-08		21557518	93612360	24	36199											
ZFP36L1	677	broad.mit.edu	37	14	69256928	69256928	+	Silent	SNP	G	G	A			TCGA-TM-A7C5-01A-11D-A32B-08	TCGA-TM-A7C5-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64adb394-e415-4156-929b-da1b13c26af4	474aa4ed-af9d-4973-965e-d1217db30a43	g.chr14:69256928G>A	ENST00000439696.2	-	2	640	c.339C>T	c.(337-339)agC>agT	p.S113S	ZFP36L1_ENST00000555997.1_3'UTR|ZFP36L1_ENST00000336440.3_Silent_p.S113S	NM_001244701.1|NM_004926.3	NP_001231630.1|NP_004917.2	Q07352	TISB_HUMAN	ZFP36 ring finger protein-like 1	113					regulation of mRNA stability	cytosol|nucleus	DNA binding|mRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|kidney(1)|large_intestine(1)|liver(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(1)	21				all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		TCTTGTAGCGGCTGGAGTTGA	0.672											OREG0022753	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	170					0	0	1	0	0	A	69256928	G	A	69256928	2	1	459	1	0	0	0	0	0	0	0	1	17704	1194	42	2		2	ZFP36L1	14	69256928	Silent	SNP	G	TCGA-TM-A7C5-01A-11D-A32B-08		69256928	38092612	25	36200											
MAP1A	4130	broad.mit.edu	37	15	43819305	43819305	+	Nonsense_Mutation	SNP	G	G	A			TCGA-TM-A7C5-01A-11D-A32B-08	TCGA-TM-A7C5-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64adb394-e415-4156-929b-da1b13c26af4	474aa4ed-af9d-4973-965e-d1217db30a43	g.chr15:43819305G>A	ENST00000382031.1	+	5	6379	c.6348G>A	c.(6346-6348)tgG>tgA	p.W2116*	MAP1A_ENST00000300231.5_Nonsense_Mutation_p.W1878*|MAP1A_ENST00000399453.1_Nonsense_Mutation_p.W1878*			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	1878						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	CCTTCTCTTGGGGCACAGCCG	0.662													4	26					0	0	1	0	0	A	43819305	G	A	43819305	4	1	459	1	0	0	0	0	0	1	0	0	9277	1241	43	2	5636	2	MAP1A	15	43819305	Nonsense_Mutation	SNP	G	TCGA-TM-A7C5-01A-11D-A32B-08		43819305	58712087	26	36201											
CIB1	10519	broad.mit.edu	37	15	90774627	90774627	+	Missense_Mutation	SNP	G	G	A	rs147405990	byFrequency	TCGA-TM-A7C5-01A-11D-A32B-08	TCGA-TM-A7C5-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64adb394-e415-4156-929b-da1b13c26af4	474aa4ed-af9d-4973-965e-d1217db30a43	g.chr15:90774627G>A	ENST00000328649.6	-	4	469	c.308C>T	c.(307-309)aCg>aTg	p.T103M		NM_006384.3	NP_006375.2	Q99828	CIB1_HUMAN	calcium and integrin binding 1 (calmyrin)	103	EF-hand 1.				apoptosis|cell adhesion|double-strand break repair	apical plasma membrane|endoplasmic reticulum|filopodium|nucleoplasm	calcium ion binding|protein binding			lung(1)|prostate(1)	2	Melanoma(11;0.00551)|Lung NSC(78;0.0141)|all_lung(78;0.0303)		BRCA - Breast invasive adenocarcinoma(143;0.00269)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.217)			GATGTCTGGCGTGGCTGTGTC	0.572													18	7					0	0	1	0	0	A	90774627	G	A	90774627	3	1	459	1	0	0	0	0	1	0	0	0	3442	1145	40	1	283	1	CIB1	15	90774627	Missense_Mutation	SNP	G	TCGA-TM-A7C5-01A-11D-A32B-08	46955322	90774627	11756765	27	36202											
VWA3A	146177	broad.mit.edu	37	16	22161160	22161160	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A7C5-01A-11D-A32B-08	TCGA-TM-A7C5-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64adb394-e415-4156-929b-da1b13c26af4	474aa4ed-af9d-4973-965e-d1217db30a43	g.chr16:22161160G>A	ENST00000389397.4	+	30	3205	c.343G>A	c.(343-345)Gtg>Atg	p.V115M	VWA3A_ENST00000389398.5_Missense_Mutation_p.V1013M|VWA3A_ENST00000563755.1_Missense_Mutation_p.V115M			A6NCI4	VWA3A_HUMAN	von Willebrand factor A domain containing 3A	1013						extracellular region				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7				GBM - Glioblastoma multiforme(48;0.0439)		GGACACGCTGGTGGAGACCAC	0.557													5	14					0	0	1	0	0	A	22161160	G	A	22161160	3	1	459	1	0	0	0	0	1	0	0	0	17300	1261	44	2	3151	2	VWA3A	16	22161160	Missense_Mutation	SNP	G	TCGA-TM-A7C5-01A-11D-A32B-08		22161160	68193593	28	36203											
CPAMD8	27151	broad.mit.edu	37	19	17015067	17015067	+	Missense_Mutation	SNP	C	C	T			TCGA-TM-A7C5-01A-11D-A32B-08	TCGA-TM-A7C5-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64adb394-e415-4156-929b-da1b13c26af4	474aa4ed-af9d-4973-965e-d1217db30a43	g.chr19:17015067C>T	ENST00000443236.1	-	32	4392	c.4361G>A	c.(4360-4362)cGa>cAa	p.R1454Q		NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	1407						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						AAGTGCATTTCGCTGCTGGGA	0.652													5	22					0	0	1	0	0	T	17015067	C	T	17015067	3	4	459	1	0	0	0	0	1	0	0	0	3818	884	31	1	1481	1	CPAMD8	19	17015067	Missense_Mutation	SNP	C	TCGA-TM-A7C5-01A-11D-A32B-08		17015067	42113916	29	36204											
CIC	23152	broad.mit.edu	37	19	42791869	42791869	+	Missense_Mutation	SNP	T	T	C			TCGA-TM-A7C5-01A-11D-A32B-08	TCGA-TM-A7C5-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64adb394-e415-4156-929b-da1b13c26af4	474aa4ed-af9d-4973-965e-d1217db30a43	g.chr19:42791869T>C	ENST00000572681.2	+	6	3550	c.3482T>C	c.(3481-3483)cTg>cCg	p.L1161P	CIC_ENST00000575354.2_Missense_Mutation_p.L252P|CIC_ENST00000160740.3_Missense_Mutation_p.L252P			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	252	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				TACCACGACCTGGCCTTCCAG	0.617			"Mis, F, S"		oligodendroglioma								18	16					0	0	1	0	0	C	42791869	T	C	42791869	3	2	459	1	0	0	0	0	1	0	0	0	3446	1580	55	3	773	3	CIC	19	42791869	Missense_Mutation	SNP	T	TCGA-TM-A7C5-01A-11D-A32B-08	25776802	42791869	16337114	30	36205											
ATRN	8455	broad.mit.edu	37	20	3615007	3615007	+	Nonsense_Mutation	SNP	C	C	T			TCGA-TM-A7C5-01A-11D-A32B-08	TCGA-TM-A7C5-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64adb394-e415-4156-929b-da1b13c26af4	474aa4ed-af9d-4973-965e-d1217db30a43	g.chr20:3615007C>T	ENST00000262919.5	+	26	3981	c.3913C>T	c.(3913-3915)Caa>Taa	p.Q1305*		NM_139321.2	NP_647537.1	O75882	ATRN_HUMAN	attractin	1305					inflammatory response	extracellular space|integral to plasma membrane	receptor activity|sugar binding			breast(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	59						GAAGATCAAACAAAGTTGTTG	0.443													17	46					0	0	1	0	0	T	3615007	C	T	3615007	4	4	459	1	0	0	0	0	0	1	0	0	1204	479	17	2	4037	2	ATRN	20	3615007	Nonsense_Mutation	SNP	C	TCGA-TM-A7C5-01A-11D-A32B-08		3615007	59410513	31	36206											
WWC3	55841	broad.mit.edu	37	X	10085617	10085617	+	Frame_Shift_Del	DEL	G	G	-			TCGA-TM-A7C5-01A-11D-A32B-08	TCGA-TM-A7C5-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64adb394-e415-4156-929b-da1b13c26af4	474aa4ed-af9d-4973-965e-d1217db30a43	g.chrX:10085617delG	ENST00000380861.4	+	11	1909	c.1518delG	c.(1516-1518)atgfs	p.M506fs	WWC3_ENST00000454666.1_Frame_Shift_Del_p.M506fs	NM_015691.3	NP_056506.2	Q9ULE0	WWC3_HUMAN	WWC family member 3	506										NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						CCTCGGCTATGGGGGACGAAG	0.721													2	4	---	---	---	---						-	10085617	G	-	10085617	7	5	459	1	0	1	0	1	0	0	0	0	17473	1348	47	0	1556	0	WWC3	23	10085617	Frame_Shift_Del	DEL	G	TCGA-TM-A7C5-01A-11D-A32B-08		10085617	145184943	32	36207											
MID2	11043	broad.mit.edu	37	X	107084062	107084062	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A7C5-01A-11D-A32B-08	TCGA-TM-A7C5-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64adb394-e415-4156-929b-da1b13c26af4	474aa4ed-af9d-4973-965e-d1217db30a43	g.chrX:107084062G>A	ENST00000262843.6	+	2	715	c.167G>A	c.(166-168)cGc>cAc	p.R56H	MID2_ENST00000443968.2_Missense_Mutation_p.R56H	NM_012216.3|NM_052817.2	NP_036348.2|NP_438112.2	Q9UJV3	TRIM1_HUMAN	midline 2	56						centrosome|microtubule	ligase activity|zinc ion binding	p.R36H(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)	19						TGTGCCCATCGCATTTTGGTA	0.517													77	62					0	0	1	0	0	A	107084062	G	A	107084062	3	1	459	1	0	0	0	0	1	0	0	0	9626	1087	38	1	173	1	MID2	23	107084062	Missense_Mutation	SNP	G	TCGA-TM-A7C5-01A-11D-A32B-08	96998445	107084062	48186498	33	36208											
SPTA1	6708	broad.mit.edu	37	1	158615124	158615124	+	Missense_Mutation	SNP	C	C	G			TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr1:158615124C>G	ENST00000368147.4	-	29	4228	c.4048G>C	c.(4048-4050)Gac>Cac	p.D1350H		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)						actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GCACTGAAGTCCTCTAAGGCC	0.502													8	131					0	0	1	0	0	G	158615124	C	G	158615124	3	3	460	1	0	0	0	0	1	0	0	0	15172	855	30	5	3307	5	SPTA1	1	158615124	Missense_Mutation	SNP	C	TCGA-TM-A7CA-01A-21D-A33T-08		158615124	90635497	1	36209											
OLFML2B	25903	broad.mit.edu	37	1	161967952	161967952	+	Silent	SNP	C	C	T			TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr1:161967952C>T	ENST00000294794.3	-	6	1560	c.1137G>A	c.(1135-1137)tcG>tcA	p.S379S	OLFML2B_ENST00000367940.2_Silent_p.S380S	NM_015441.1	NP_056256.1	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B	379										breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			GATCTGAGGTCGAGGGCTGTG	0.627													5	239					0	0	1	0	0	T	161967952	C	T	161967952	2	4	460	1	0	0	0	0	0	0	0	1	10906	871	31	1		1	OLFML2B	1	161967952	Silent	SNP	C	TCGA-TM-A7CA-01A-21D-A33T-08	3352828	161967952	87282669	2	36210											
USH2A	7399	broad.mit.edu	37	1	215972326	215972326	+	Missense_Mutation	SNP	C	C	G			TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr1:215972326C>G	ENST00000366943.2	-	50	10267	c.9881G>C	c.(9880-9882)tGc>tCc	p.C3294S	USH2A_ENST00000307340.3_Missense_Mutation_p.C3294S			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3294					maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TCTGCCACAGCACTTCTGGCC	0.527										HNSCC(13;0.011)			9	113					0	0	1	0	0	G	215972326	C	G	215972326	3	3	460	1	0	0	0	0	1	0	0	0	17096	710	25	5	5819	5	USH2A	1	215972326	Missense_Mutation	SNP	C	TCGA-TM-A7CA-01A-21D-A33T-08	54004374	215972326	33278295	3	36211											
RYR2	6262	broad.mit.edu	37	1	237604643	237604643	+	Missense_Mutation	SNP	A	A	G			TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr1:237604643A>G	ENST00000366574.2	+	13	1347	c.1030A>G	c.(1030-1032)Aaa>Gaa	p.K344E	RYR2_ENST00000360064.6_Missense_Mutation_p.K342E|RYR2_ENST00000542537.1_Missense_Mutation_p.K328E	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	344					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AGGGGTGAGAAAAGAAGTAGA	0.378													69	94					0	0	1	0	0	G	237604643	A	G	237604643	3	3	460	1	0	0	0	0	1	0	0	0	13821	15	1	3	1080	3	RYR2	1	237604643	Missense_Mutation	SNP	A	TCGA-TM-A7CA-01A-21D-A33T-08	21632317	237604643	11645978	4	36212											
TRIM58	25893	broad.mit.edu	37	1	248039310	248039310	+	Missense_Mutation	SNP	A	A	G			TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr1:248039310A>G	ENST00000366481.3	+	6	1028	c.980A>G	c.(979-981)gAg>gGg	p.E327G	OR2W3_ENST00000537741.1_5'UTR	NM_015431.3	NP_056246.3	Q8NG06	TRI58_HUMAN	tripartite motif containing 58	327	B30.2/SPRY.					intracellular	zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			AACAACCCTGAGCGATTTGAC	0.592													5	78					0	0	1	0	0	G	248039310	A	G	248039310	3	3	460	1	0	0	0	0	1	0	0	0	16592	304	11	3	1002	3	TRIM58	1	248039310	Missense_Mutation	SNP	A	TCGA-TM-A7CA-01A-21D-A33T-08	10434667	248039310	1211311	5	36213											
GREB1	9687	broad.mit.edu	37	2	11702615	11702615	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr2:11702615G>A	ENST00000381486.2	+	3	484	c.184G>A	c.(184-186)Gag>Aag	p.E62K	GREB1_ENST00000263834.5_Missense_Mutation_p.E62K|GREB1_ENST00000234142.5_Missense_Mutation_p.E62K|GREB1_ENST00000389825.3_5'UTR|GREB1_ENST00000381483.2_Missense_Mutation_p.E62K	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	62						integral to membrane				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		CAATGAGGAAGAGGAAGAAGA	0.582													10	188					0	0	1	0	0	A	11702615	G	A	11702615	3	1	460	1	0	0	0	0	1	0	0	0	6801	943	33	2	190	2	GREB1	2	11702615	Missense_Mutation	SNP	G	TCGA-TM-A7CA-01A-21D-A33T-08		11702615	231496758	6	36214											
ALMS1	7840	broad.mit.edu	37	2	73680594	73680594	+	Missense_Mutation	SNP	G	G	T			TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr2:73680594G>T	ENST00000264448.6	+	8	7048	c.6937G>T	c.(6937-6939)Ggt>Tgt	p.G2313C	ALMS1_ENST00000377715.1_Missense_Mutation_p.G2313C|ALMS1_ENST00000409009.1_Missense_Mutation_p.G2271C	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	2313					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						TGTATCTAATGGTGATTTGCT	0.448													5	134					0.184627	0.184627	1	1	0	T	73680594	G	T	73680594	3	4	460	1	0	0	0	0	1	0	0	0	531	1348	47	5	6967	5	ALMS1	2	73680594	Missense_Mutation	SNP	G	TCGA-TM-A7CA-01A-21D-A33T-08	61977979	73680594	169518779	7	36215											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								48	90					0	0	1	0	0	T	209113112	C	T	209113112	3	4	460	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-TM-A7CA-01A-21D-A33T-08	135432518	209113112	34086261	8	36216											
RYK	6259	broad.mit.edu	37	3	133913946	133913946	+	Missense_Mutation	SNP	T	T	C			TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr3:133913946T>C	ENST00000427044.2	-	8	903	c.293A>G	c.(292-294)aAc>aGc	p.N98S	RYK_ENST00000296084.4_Missense_Mutation_p.N288S			P34925	RYK_HUMAN	receptor-like tyrosine kinase	287	WIF.				corpus callosum development|positive regulation of MAPKKK cascade|Wnt receptor signaling pathway	cytoplasm|integral to plasma membrane|nucleus	ATP binding|transmembrane receptor protein tyrosine kinase activity			lung(1)|ovary(3)	4						AGTTGCATTGTTGGGCGTGTC	0.458													27	39					0	0	1	0	0	C	133913946	T	C	133913946	3	2	460	1	0	0	0	0	1	0	0	0	13819	1725	60	3	999	3	RYK	3	133913946	Missense_Mutation	SNP	T	TCGA-TM-A7CA-01A-21D-A33T-08		133913946	64108484	9	36217											
RTP4	64108	broad.mit.edu	37	3	187088818	187088818	+	Missense_Mutation	SNP	A	A	T			TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr3:187088818A>T	ENST00000259030.2	+	2	508	c.398A>T	c.(397-399)aAg>aTg	p.K133M		NM_022147.2	NP_071430.2	Q96DX8	RTP4_HUMAN	receptor (chemosensory) transporter protein 4	133					detection of chemical stimulus involved in sensory perception of bitter taste|protein targeting to membrane	cytoplasm|integral to membrane	protein binding			breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	11	all_cancers(143;4.66e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.56e-18)	GBM - Glioblastoma multiforme(93;0.0269)		GGCACGAGGAAGTCTCCAGAA	0.488													29	35					0	0	1	0	0	T	187088818	A	T	187088818	3	4	460	1	0	0	0	0	1	0	0	0	13788	72	3	5	404	5	RTP4	3	187088818	Missense_Mutation	SNP	A	TCGA-TM-A7CA-01A-21D-A33T-08	53174872	187088818	10933612	10	36218											
PCDH7	5099	broad.mit.edu	37	4	31144318	31144318	+	Silent	SNP	G	G	T			TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr4:31144318G>T	ENST00000543491.1	+	3	3615	c.3615G>T	c.(3613-3615)ctG>ctT	p.L1205L				O60245	PCDH7_HUMAN	protocadherin 7	0					homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						GAAACCTCCTGAACAAAAAGT	0.493													10	200					3.86212e-05	3.97571e-05	1	1	0	T	31144318	G	T	31144318	2	4	460	1	0	0	0	0	0	0	0	1	11563	1277	45	5		5	PCDH7	4	31144318	Silent	SNP	G	TCGA-TM-A7CA-01A-21D-A33T-08		31144318	160009958	11	36219											
ATP10D	57205	broad.mit.edu	37	4	47514779	47514779	+	Silent	SNP	T	T	C			TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr4:47514779T>C	ENST00000273859.3	+	2	491	c.222T>C	c.(220-222)aaT>aaC	p.N74N	ATP10D_ENST00000504445.1_Silent_p.N74N	NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	74					ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						ATGTGAACAATCGAATACGAA	0.403													72	84					0	0	1	0	0	C	47514779	T	C	47514779	2	2	460	1	0	0	0	0	0	0	0	1	1117	1432	50	3		3	ATP10D	4	47514779	Silent	SNP	T	TCGA-TM-A7CA-01A-21D-A33T-08	16370461	47514779	143639497	12	36220											
PDE8B	8622	broad.mit.edu	37	5	76715664	76715664	+	Silent	SNP	A	A	G			TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr5:76715664A>G	ENST00000264917.5	+	19	2247	c.2202A>G	c.(2200-2202)gaA>gaG	p.E734E	PDE8B_ENST00000342343.4_Silent_p.E714E|PDE8B_ENST00000346042.3_Silent_p.E637E|PDE8B_ENST00000505283.1_Silent_p.E199E|PDE8B_ENST00000340978.3_Silent_p.E687E|PDE8B_ENST00000333194.4_Silent_p.E679E	NM_003719.3	NP_003710.1	O95263	PDE8B_HUMAN	phosphodiesterase 8B	734	Catalytic (By similarity).				cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity		GMDS/PDE8B(2)	NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(15)|ovary(1)|prostate(2)|skin(3)	40		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)		AACACTTTGAACATGTGAATA	0.423													48	116					0	0	1	0	0	G	76715664	A	G	76715664	2	3	460	1	0	0	0	0	0	0	0	1	11701	40	2	3		3	PDE8B	5	76715664	Silent	SNP	A	TCGA-TM-A7CA-01A-21D-A33T-08		76715664	104199596	13	36221											
ANKRD34B	340120	broad.mit.edu	37	5	79855467	79855467	+	Silent	SNP	A	A	G			TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr5:79855467A>G	ENST00000338682.3	-	5	1044	c.372T>C	c.(370-372)taT>taC	p.Y124Y		NM_001004441.2	NP_001004441.2	A5PLL1	AN34B_HUMAN	ankyrin repeat domain 34B	124						cytoplasm|nucleus				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	28		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;2.17e-46)|Epithelial(54;5.64e-41)|all cancers(79;3.24e-36)		AATTTATAGCATAAACAAGAG	0.443													5	259					0	0	1	0	0	G	79855467	A	G	79855467	2	3	460	1	0	0	0	0	0	0	0	1	658	224	8	3		3	ANKRD34B	5	79855467	Silent	SNP	A	TCGA-TM-A7CA-01A-21D-A33T-08	3139803	79855467	101059793	14	36222											
NRG2	9542	broad.mit.edu	37	5	139422523	139422531	+	In_Frame_Del	DEL	GCCGCTCTC	GCCGCTCTC	-			TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr5:139422523_139422531delGCCGCTCTC	ENST00000541337.1	-	1	353_361	c.124_132delGAGAGCGGC	c.(124-132)gagagcggcdel	p.ESG42del	NRG2_ENST00000394770.1_In_Frame_Del_p.ESG42del|NRG2_ENST00000289422.7_In_Frame_Del_p.ESG42del|NRG2_ENST00000545385.1_In_Frame_Del_p.ESG42del|NRG2_ENST00000358522.3_In_Frame_Del_p.ESG42del|NRG2_ENST00000361474.1_In_Frame_Del_p.ESG42del|NRG2_ENST00000289409.4_In_Frame_Del_p.ESG42del	NM_001184935.1	NP_001171864.1	O14511	NRG2_HUMAN	neuregulin 2	42	Poly-Ser.				embryo development	extracellular region|integral to membrane|plasma membrane	growth factor activity			breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	25			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			tgctgctgctgccgctctcgctgctgctg	0.708													2	4	---	---	---	---						-	139422531	GCCGCTCTC	-	139422523	7	5	460	1	0	1	0	1	0	0	0	0	10696	1306	46	0	2551	0	NRG2	5	139422523	In_Frame_Del	DEL	GCCGCTCTC	TCGA-TM-A7CA-01A-21D-A33T-08	59567056	139422523	41492737	15	36223											
EFHC1	114327	broad.mit.edu	37	6	52288806	52288806	+	Silent	SNP	T	T	C			TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr6:52288806T>C	ENST00000371068.5	+	2	229	c.126T>C	c.(124-126)cgT>cgC	p.R42R	EFHC1_ENST00000433625.2_5'UTR|EFHC1_ENST00000491749.1_3'UTR|EFHC1_ENST00000538167.1_Silent_p.R23R	NM_018100.3	NP_060570.2	Q5JVL4	EFHC1_HUMAN	EF-hand domain (C-terminal) containing 1	42						axoneme|neuronal cell body	calcium ion binding|protein C-terminus binding			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	27	Lung NSC(77;0.109)					TTGTTCGACGTCCAACAGTTG	0.493													4	179					0	0	1	0	0	C	52288806	T	C	52288806	2	2	460	1	0	0	0	0	0	0	0	1	4972	1654	58	3		3	EFHC1	6	52288806	Silent	SNP	T	TCGA-TM-A7CA-01A-21D-A33T-08		52288806	118826261	16	36224											
POPDC3	64208	broad.mit.edu	37	6	105606400	105606400	+	Missense_Mutation	SNP	C	C	T			TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr6:105606400C>T	ENST00000254765.3	-	4	1099	c.821G>A	c.(820-822)cGc>cAc	p.R274H	POPDC3_ENST00000474760.1_5'UTR|BVES-AS1_ENST00000369120.2_RNA|BVES-AS1_ENST00000369122.3_RNA|BVES-AS1_ENST00000580511.1_RNA|BVES-AS1_ENST00000580854.1_RNA	NM_022361.4	NP_071756.2	Q9HBV1	POPD3_HUMAN	popeye domain containing 3	274						integral to membrane				NS(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(3)|urinary_tract(1)	26		all_cancers(87;4.87e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0157)|Colorectal(196;0.202)|Lung NSC(302;0.238)				GGGTGATCTGCGTATTTCTGG	0.348													86	126					0	0	1	0	0	T	105606400	C	T	105606400	3	4	460	1	0	0	0	0	1	0	0	0	12304	768	27	1	58	1	POPDC3	6	105606400	Missense_Mutation	SNP	C	TCGA-TM-A7CA-01A-21D-A33T-08	53317594	105606400	65508667	17	36225											
FAM26E	254228	broad.mit.edu	37	6	116836827	116836827	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr6:116836827G>A	ENST00000368599.3	+	2	656	c.605G>A	c.(604-606)cGc>cAc	p.R202H	TRAPPC3L_ENST00000368602.3_Intron	NM_153711.2	NP_714922.1	Q8N5C1	FA26E_HUMAN	family with sequence similarity 26, member E	202						integral to membrane				breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)	7		all_cancers(87;0.0608)|all_epithelial(87;0.05)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0242)|all cancers(137;0.0419)|OV - Ovarian serous cystadenocarcinoma(136;0.0671)|Epithelial(106;0.212)		TGTTATGCTCGCTGCCGATCT	0.413													6	277					0	0	1	0	0	A	116836827	G	A	116836827	3	1	460	1	0	0	0	0	1	0	0	0	5586	1087	38	1	611	1	FAM26E	6	116836827	Missense_Mutation	SNP	G	TCGA-TM-A7CA-01A-21D-A33T-08	11230427	116836827	54278240	18	36226											
PPP1R3A	5506	broad.mit.edu	37	7	113519703	113519703	+	Silent	SNP	A	A	G			TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr7:113519703A>G	ENST00000284601.3	-	4	1512	c.1444T>C	c.(1444-1446)Ttg>Ctg	p.L482L		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	482					glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						AAACATCCCAAATCTTTTACT	0.373													11	207					0	0	1	0	0	G	113519703	A	G	113519703	2	3	460	1	0	0	0	0	0	0	0	1	12420	11	1	3		3	PPP1R3A	7	113519703	Silent	SNP	A	TCGA-TM-A7CA-01A-21D-A33T-08		113519703	45618960	19	36227											
NUB1	51667	broad.mit.edu	37	7	151072988	151072988	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr7:151072988G>A	ENST00000568733.1	+	13	1588	c.1522G>A	c.(1522-1524)Gac>Aac	p.D508N	NUB1_ENST00000355851.4_Missense_Mutation_p.D484N|NUB1_ENST00000413040.2_Missense_Mutation_p.D494N|NUB1_ENST00000566856.1_Missense_Mutation_p.D470N			Q9Y5A7	NUB1_HUMAN	negative regulator of ubiquitin-like proteins 1	484	UBA 3.				positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|response to interferon-gamma|response to tumor necrosis factor|ubiquitin-dependent protein catabolic process	nucleus	protein binding			endometrium(1)|large_intestine(7)|lung(3)	11			OV - Ovarian serous cystadenocarcinoma(82;0.00569)	UCEC - Uterine corpus endometrioid carcinoma (81;0.172)		TCCTGAAACCGACAACCGTCA	0.493													5	324					0	0	1	0	0	A	151072988	G	A	151072988	3	1	460	1	0	0	0	0	1	0	0	0	10762	1058	37	1	1454	1	NUB1	7	151072988	Missense_Mutation	SNP	G	TCGA-TM-A7CA-01A-21D-A33T-08	37553285	151072988	8065675	20	36228											
SIGMAR1	10280	broad.mit.edu	37	9	34635806	34635806	+	Silent	SNP	C	C	T			TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr9:34635806C>T	ENST00000378892.1	-	3	655	c.228G>A	c.(226-228)ggG>ggA	p.G76G	SIGMAR1_ENST00000477726.1_Silent_p.G134G|SIGMAR1_ENST00000461426.1_5'UTR|SIGMAR1_ENST00000277010.4_Silent_p.G165G			Q99720	SGMR1_HUMAN	sigma non-opioid intracellular receptor 1	165					ergosterol biosynthetic process|lipid transport	cell junction|endoplasmic reticulum membrane|growth cone|integral to plasma membrane|lipid particle|nuclear inner membrane|nuclear outer membrane	C-8 sterol isomerase activity|drug binding			large_intestine(1)|lung(1)	2					Dextromethorphan(DB00514)	ATGTGTTTGGCCCCCACTCCA	0.647													46	53					0	0	1	0	0	T	34635806	C	T	34635806	2	4	460	1	0	0	0	0	0	0	0	1	14371	726	26	2		2	SIGMAR1	9	34635806	Silent	SNP	C	TCGA-TM-A7CA-01A-21D-A33T-08		34635806	106577625	21	36229											
TRIM14	9830	broad.mit.edu	37	9	100849858	100849858	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr9:100849858G>A	ENST00000341469.2	-	6	1232	c.1223C>T	c.(1222-1224)aCg>aTg	p.T408M	TRIM14_ENST00000342043.3_Missense_Mutation_p.T408M|TRIM14_ENST00000478530.1_5'UTR|TRIM14_ENST00000375098.3_Missense_Mutation_p.T408M|TRIM14_ENST00000538344.1_Missense_Mutation_p.T189M	NM_014788.2	NP_055603.2	Q14142	TRI14_HUMAN	tripartite motif containing 14	408	B30.2/SPRY.			RLRPRDDLDRLGVFLDYEAGVLAFYDVTGGMSHLHTFRATF QEPLYPALRLWEGAISIPRLP -> ACGPATTSTGSASSWT TRPASSPSTT (in Ref. 2; BAA09478).		cytoplasm|intracellular	zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	9		Acute lymphoblastic leukemia(62;0.0559)				CATGCCGCCCGTCACGTCGTA	0.726													3	26					0	0	1	0	0	A	100849858	G	A	100849858	3	1	460	1	0	0	0	0	1	0	0	0	16550	1145	40	1	109	1	TRIM14	9	100849858	Missense_Mutation	SNP	G	TCGA-TM-A7CA-01A-21D-A33T-08	66214052	100849858	40363573	22	36230											
SMC2	10592	broad.mit.edu	37	9	106877086	106877086	+	Silent	SNP	C	C	A			TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr9:106877086C>A	ENST00000286398.7	+	13	1935	c.1647C>A	c.(1645-1647)ctC>ctA	p.L549L	SMC2_ENST00000374787.3_Silent_p.L549L|SMC2_ENST00000303219.8_Silent_p.L549L|SMC2_ENST00000374793.3_Silent_p.L549L	NM_001042551.1|NM_001265602.1|NM_006444.2	NP_001036016.1|NP_001252531.1|NP_006435.2	O95347	SMC2_HUMAN	structural maintenance of chromosomes 2	549	Flexible hinge.				cell division|mitotic chromosome condensation|symbiosis, encompassing mutualism through parasitism	condensin complex|cytoplasm|nuclear chromosome	ATP binding|protein heterodimerization activity			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						GAGAACGACTCTACAATGTTG	0.333													4	117					0.150653	0.152837	1	1	0	A	106877086	C	A	106877086	2	1	460	1	0	0	0	0	0	0	0	1	14837	900	32	4		4	SMC2	9	106877086	Silent	SNP	C	TCGA-TM-A7CA-01A-21D-A33T-08	6027228	106877086	34336345	23	36231											
STOM	2040	broad.mit.edu	37	9	124116908	124116908	+	Missense_Mutation	SNP	C	C	T	rs115867734	by1000genomes	TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr9:124116908C>T	ENST00000286713.2	-	3	226	c.209G>A	c.(208-210)cGc>cAc	p.R70H	STOM_ENST00000538954.1_Missense_Mutation_p.R19H|STOM_ENST00000347359.2_Intron	NM_001270526.1|NM_004099.5	NP_001257455.1|NP_004090.4	P27105	STOM_HUMAN	stomatin	70					protein homooligomerization	cytoskeleton|integral to plasma membrane|melanosome|membrane raft	protein binding			endometrium(1)|large_intestine(1)|lung(3)|urinary_tract(1)	6				OV - Ovarian serous cystadenocarcinoma(323;0.00107)|GBM - Glioblastoma multiforme(294;0.0137)		TTGTAAAATGCGACCCAATCT	0.294													4	123					0	0	1	0	0	T	124116908	C	T	124116908	3	4	460	1	0	0	0	0	1	0	0	0	15368	768	27	1	677	1	STOM	9	124116908	Missense_Mutation	SNP	C	TCGA-TM-A7CA-01A-21D-A33T-08	17239822	124116908	17096523	24	36232											
CRB2	286204	broad.mit.edu	37	9	126133603	126133603	+	Missense_Mutation	SNP	C	C	G			TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr9:126133603C>G	ENST00000373631.3	+	8	2183	c.2182C>G	c.(2182-2184)Ctg>Gtg	p.L728V	CRB2_ENST00000359999.3_Missense_Mutation_p.L728V|CRB2_ENST00000373629.2_Missense_Mutation_p.L396V	NM_173689.5	NP_775960.4	Q5IJ48	CRUM2_HUMAN	crumbs homolog 2 (Drosophila)	728	Laminin G-like 2.					extracellular region|integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						GCTCCGTCACCTGGTGATGCT	0.667													14	196					0	0	1	0	0	G	126133603	C	G	126133603	3	3	460	1	0	0	0	0	1	0	0	0	3872	680	24	4	2212	4	CRB2	9	126133603	Missense_Mutation	SNP	C	TCGA-TM-A7CA-01A-21D-A33T-08	2016695	126133603	15079828	25	36233											
TOR1A	1861	broad.mit.edu	37	9	132576341	132576343	+	In_Frame_Del	DEL	CTC	CTC	-	rs80358233		TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr9:132576341_132576343delCTC	ENST00000351698.4	-	5	955_957	c.907_909delGAG	c.(907-909)gagdel	p.E303del		NM_000113.2	NP_000104.1	O14656	TOR1A_HUMAN	torsin family 1, member A (torsin A)	303			Missing (in DYT1).		chaperone mediated protein folding requiring cofactor|response to unfolded protein	endoplasmic reticulum lumen|nuclear membrane	ATP binding|serine-type endopeptidase activity|unfolded protein binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	20		Ovarian(14;0.00556)				AAAATGTCATCTCCTCAGCCACT	0.424													119	269	---	---	---	---						-	132576343	CTC	-	132576341	7	5	460	1	0	1	0	1	0	0	0	0	16432	912	32	0	93	0	TOR1A	9	132576341	In_Frame_Del	DEL	CTC	TCGA-TM-A7CA-01A-21D-A33T-08	6442738	132576341	8637090	26	36234											
CUBN	8029	broad.mit.edu	37	10	17110716	17110716	+	Silent	SNP	T	T	C			TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr10:17110716T>C	ENST00000377833.4	-	20	2744	c.2679A>G	c.(2677-2679)acA>acG	p.T893T		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	893	CUB 4.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	AAGGTATGTCTGTACCGCAAT	0.318													89	280					0	0	1	0	0	C	17110716	T	C	17110716	2	2	460	1	0	0	0	0	0	0	0	1	4074	1567	55	3		3	CUBN	10	17110716	Silent	SNP	T	TCGA-TM-A7CA-01A-21D-A33T-08		17110716	118424031	27	36235											
STAM	8027	broad.mit.edu	37	10	17726892	17726892	+	Missense_Mutation	SNP	A	A	G			TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr10:17726892A>G	ENST00000377524.3	+	4	478	c.263A>G	c.(262-264)gAt>gGt	p.D88G	STAM_ENST00000540523.1_Intron	NM_003473.3	NP_003464.1	Q92783	STAM1_HUMAN	signal transducing adaptor molecule (SH3 domain and ITAM motif) 1	88	VHS.				cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway	cytosol|early endosome membrane	SH3/SH2 adaptor activity			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	26						TGTTCAAGAGATTTTGCTAGT	0.313													48	119					0	0	1	0	0	G	17726892	A	G	17726892	3	3	460	1	0	0	0	0	1	0	0	0	15304	333	12	3	277	3	STAM	10	17726892	Missense_Mutation	SNP	A	TCGA-TM-A7CA-01A-21D-A33T-08	616176	17726892	117807855	28	36236											
RET	5979	broad.mit.edu	37	10	43615005	43615005	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr10:43615005G>A	ENST00000355710.3	+	14	2651	c.2419G>A	c.(2419-2421)Gcc>Acc	p.A807T	RET_ENST00000340058.5_Missense_Mutation_p.A807T	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	807	Protein kinase.				homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Sunitinib(DB01268)	CGTGGAGTACGCCAAATACGG	0.701		1	"T, Mis, N, F"	"H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"	"medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"	"medullary thyroid,  papillary thyroid, pheochromocytoma"	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma				8	16					0	0	1	0	0	A	43615005	G	A	43615005	3	1	460	1	0	0	0	0	1	0	0	0	13287	1087	38	1	2473	1	RET	10	43615005	Missense_Mutation	SNP	G	TCGA-TM-A7CA-01A-21D-A33T-08	25888113	43615005	91919742	29	36237											
SMC3	9126	broad.mit.edu	37	10	112361522	112361522	+	Missense_Mutation	SNP	G	G	C			TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr10:112361522G>C	ENST00000361804.4	+	24	2898	c.2772G>C	c.(2770-2772)aaG>aaC	p.K924N		NM_005445.3	NP_005436.1	Q9UQE7	SMC3_HUMAN	structural maintenance of chromosomes 3	924					cell division|DNA mediated transformation|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic spindle organization|negative regulation of DNA endoreduplication|signal transduction|sister chromatid cohesion	basement membrane|chromatin|chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nuclear matrix|nucleoplasm|spindle pole	ATP binding|dynein binding|microtubule motor activity|protein heterodimerization activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)		AACTGGAAAAGATGACAAATC	0.378													12	200					0	0	1	0	0	C	112361522	G	C	112361522	3	2	460	1	0	0	0	0	1	0	0	0	14838	933	33	4	2866	4	SMC3	10	112361522	Missense_Mutation	SNP	G	TCGA-TM-A7CA-01A-21D-A33T-08	68746517	112361522	23173225	30	36238											
BTBD16	118663	broad.mit.edu	37	10	124097550	124097550	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr10:124097550G>A	ENST00000368994.2	+	16	1725	c.1474G>A	c.(1474-1476)Gtg>Atg	p.V492M	BTBD16_ENST00000260723.4_Missense_Mutation_p.V491M			Q32M84	BTBDG_HUMAN	BTB (POZ) domain containing 16	491										breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(3)|skin(2)|stomach(1)|urinary_tract(1)	15		all_neural(114;0.107)|Lung NSC(174;0.175)|all_lung(145;0.222)|Breast(234;0.238)				AATCCAAACTGTGGGCATCCC	0.408													6	117					0	0	1	0	0	A	124097550	G	A	124097550	3	1	460	1	0	0	0	0	1	0	0	0	1543	1377	48	2	1529	2	BTBD16	10	124097550	Missense_Mutation	SNP	G	TCGA-TM-A7CA-01A-21D-A33T-08	11736028	124097550	11437197	31	36239											
OR5M8	219484	broad.mit.edu	37	11	56258358	56258358	+	Nonsense_Mutation	SNP	G	G	T			TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr11:56258358G>T	ENST00000327216.2	-	1	513	c.489C>A	c.(487-489)taC>taA	p.Y163*		NM_001005282.1	NP_001005282.1	Q8NGP6	OR5M8_HUMAN	olfactory receptor, family 5, subfamily M, member 8	163					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(22)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Esophageal squamous(21;0.00352)					AGGCTAGGTTGTAGGTCCACA	0.498													8	148					7.48243e-07	7.93591e-07	1	1	0	T	56258358	G	T	56258358	4	4	460	1	0	0	0	0	0	1	0	0	11223	1372	48	5	450	5	OR5M8	11	56258358	Nonsense_Mutation	SNP	G	TCGA-TM-A7CA-01A-21D-A33T-08		56258358	78748158	32	36240											
MACROD1	28992	broad.mit.edu	37	11	63919827	63919827	+	Missense_Mutation	SNP	G	G	T			TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr11:63919827G>T	ENST00000255681.6	-	2	403	c.337C>A	c.(337-339)Cat>Aat	p.H113N	MACROD1_ENST00000538595.1_5'UTR	NM_014067.3	NP_054786.2	Q9BQ69	MACD1_HUMAN	MACRO domain containing 1	113										breast(1)|large_intestine(3)|lung(6)|skin(1)	11						CAGAAGTAATGTTCCTCCCGC	0.617													65	152					1.05635e-38	1.13761e-38	1	1	0	T	63919827	G	T	63919827	3	4	460	1	0	0	0	0	1	0	0	0	9191	1377	48	5	676	5	MACROD1	11	63919827	Missense_Mutation	SNP	G	TCGA-TM-A7CA-01A-21D-A33T-08	7661469	63919827	71086689	33	36241											
FIBP	9158	broad.mit.edu	37	11	65653868	65653868	+	Missense_Mutation	SNP	T	T	C			TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr11:65653868T>C	ENST00000338369.2	-	4	549	c.437A>G	c.(436-438)aAg>aGg	p.K146R	FIBP_ENST00000426652.2_5'UTR|FIBP_ENST00000357519.4_Missense_Mutation_p.K146R|FIBP_ENST00000533045.1_Missense_Mutation_p.K143R	NM_198897.1	NP_942600.1	O43427	FIBP_HUMAN	fibroblast growth factor (acidic) intracellular binding protein	146					fibroblast growth factor receptor signaling pathway	endomembrane system|membrane|microsome|mitochondrion|nucleus	fibroblast growth factor binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	10				READ - Rectum adenocarcinoma(159;0.166)		CTCTACCACCTTGAAGACCCG	0.522													14	223					0	0	1	0	0	C	65653868	T	C	65653868	3	2	460	1	0	0	0	0	1	0	0	0	5919	1609	56	3	685	3	FIBP	11	65653868	Missense_Mutation	SNP	T	TCGA-TM-A7CA-01A-21D-A33T-08	1734041	65653868	69352648	34	36242											
PIWIL4	143689	broad.mit.edu	37	11	94328504	94328504	+	Nonsense_Mutation	SNP	C	C	T			TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr11:94328504C>T	ENST00000299001.6	+	10	1391	c.1180C>T	c.(1180-1182)Cag>Tag	p.Q394*	RP11-867G2.8_ENST00000537874.1_RNA|RP11-867G2.8_ENST00000536540.1_RNA	NM_152431.2	NP_689644.2	Q7Z3Z4	PIWL4_HUMAN	piwi-like RNA-mediated gene silencing 4	394					cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|meiosis|multicellular organismal development|piRNA metabolic process|regulation of translation|spermatogenesis	nucleus|piP-body	piRNA binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|urinary_tract(2)	30		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				ATCTGATTTCCAGCTGATGAA	0.498													8	179					0	0	1	0	0	T	94328504	C	T	94328504	4	4	460	1	0	0	0	0	0	1	0	0	12008	595	21	2	1218	2	PIWIL4	11	94328504	Nonsense_Mutation	SNP	C	TCGA-TM-A7CA-01A-21D-A33T-08	28674636	94328504	40678012	35	36243											
YAP1	10413	broad.mit.edu	37	11	102076697	102076697	+	Silent	SNP	A	A	G			TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr11:102076697A>G	ENST00000282441.5	+	5	1264	c.876A>G	c.(874-876)ggA>ggG	p.G292G	YAP1_ENST00000531439.1_Silent_p.G292G|YAP1_ENST00000526343.1_Silent_p.G254G|YAP1_ENST00000537274.1_Silent_p.G292G|YAP1_ENST00000345877.2_Silent_p.G254G|YAP1_ENST00000524575.1_Silent_p.G114G	NM_001130145.2|NM_001282101.1	NP_001123617.1|NP_001269030.1	P46937	YAP1_HUMAN	Yes-associated protein 1	292	Transactivation domain.				cell proliferation|cellular response to gamma radiation|contact inhibition|hippo signaling cascade|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|transcription coactivator activity|transcription corepressor activity|transcription regulatory region DNA binding			central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)	4	all_cancers(8;0.000575)|all_epithelial(12;0.00564)	Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.00936)	Lung(13;0.245)	BRCA - Breast invasive adenocarcinoma(274;0.0189)		GCCCACAGGGAGGCGTCATGG	0.537													7	111					0	0	1	0	0	G	102076697	A	G	102076697	2	3	460	1	0	0	0	0	0	0	0	1	17526	291	11	3		3	YAP1	11	102076697	Silent	SNP	A	TCGA-TM-A7CA-01A-21D-A33T-08	7748193	102076697	32929819	36	36244											
ARID2	196528	broad.mit.edu	37	12	46123899	46123903	+	Frame_Shift_Del	DEL	TACTT	TACTT	-			TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr12:46123899_46123903delTACTT	ENST00000334344.6	+	2	337_341	c.165_169delTACTT	c.(163-171)actactttafs	p.TL56fs	ARID2_ENST00000422737.1_5'UTR	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	56	ARID.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		CCAGAGTCACTACTTTAGGCGGATT	0.537			"N, S, F"		hepatocellular carcinoma								36	92	---	---	---	---						-	46123903	TACTT	-	46123899	7	5	460	1	0	1	0	1	0	0	0	0	912	1509	53	0	171	0	ARID2	12	46123899	Frame_Shift_Del	DEL	TACTT	TCGA-TM-A7CA-01A-21D-A33T-08		46123899	87727996	37	36245											
SLC4A8	9498	broad.mit.edu	37	12	51882498	51882498	+	Missense_Mutation	SNP	C	C	T			TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr12:51882498C>T	ENST00000453097.2	+	18	2519	c.2302C>T	c.(2302-2304)Cgc>Tgc	p.R768C	SLC4A8_ENST00000358657.3_Missense_Mutation_p.R795C	NM_001039960.2|NM_001258401.2	NP_001035049.1|NP_001245330.1	Q2Y0W8	S4A8_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 8	768					bicarbonate transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5)	55				BRCA - Breast invasive adenocarcinoma(357;0.15)		AAGGGATGATCGCGGATGGAT	0.378													86	158					0	0	1	0	0	T	51882498	C	T	51882498	3	4	460	1	0	0	0	0	1	0	0	0	14714	884	31	1	2372	1	SLC4A8	12	51882498	Missense_Mutation	SNP	C	TCGA-TM-A7CA-01A-21D-A33T-08	5758599	51882498	81969397	38	36246											
TPTE2	93492	broad.mit.edu	37	13	20056686	20056686	+	Splice_Site	SNP	T	T	C			TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr13:20056686T>C	ENST00000400230.2	-	4	165	c.121A>G	c.(121-123)Atg>Gtg	p.M41V	TPTE2_ENST00000457266.2_Splice_Site_p.M41V|TPTE2_ENST00000390680.2_Intron|TPTE2_ENST00000382975.4_Splice_Site_p.M41V|TPTE2_ENST00000255310.6_Intron|TPTE2_ENST00000382977.4_Splice_Site_p.M41V|TPTE2_ENST00000382978.1_Splice_Site_p.M41V|TPTE2_ENST00000400103.2_Splice_Site_p.M41V			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	41						endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		CGTTCTAACATACTTTAGCCA	0.313													4	125					0	0	1	0	0	C	20056686	T	C	20056686	5	2	460	1	0	0	0	0	0	0	1	0	16492	1420	49	3	1515	3	TPTE2	13	20056686	Splice_Site	SNP	T	TCGA-TM-A7CA-01A-21D-A33T-08		20056686	95113192	39	36247											
CTAGE5	4253	broad.mit.edu	37	14	39763257	39763257	+	Silent	SNP	C	C	G			TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr14:39763257C>G	ENST00000553728.1	+	11	2367	c.2154C>G	c.(2152-2154)ctC>ctG	p.L718L	CTAGE5_ENST00000553352.1_Silent_p.L154L|CTAGE5_ENST00000556148.1_Silent_p.L108L|CTAGE5_ENST00000348007.3_Silent_p.L183L|CTAGE5_ENST00000280083.3_Silent_p.L183L|CTAGE5_ENST00000396165.4_Silent_p.L154L|CTAGE5_ENST00000396158.2_Silent_p.L188L|CTAGE5_ENST00000557038.1_Silent_p.L103L|CTAGE5_ENST00000341749.3_Silent_p.L171L|CTAGE5_ENST00000341502.5_Silent_p.L183L|RP11-407N17.3_ENST00000603904.1_Silent_p.L154L																							CAAAATCCCTCAAATCACAAG	0.299													18	239					0	0	1	0	0	G	39763257	C	G	39763257	2	3	460	1	0	0	0	0	0	0	0	1	4019	813	29	5		5	CTAGE5	14	39763257	Silent	SNP	C	TCGA-TM-A7CA-01A-21D-A33T-08		39763257	67586283	40	36248											
NR2F2	7026	broad.mit.edu	37	15	96875568	96875568	+	Missense_Mutation	SNP	G	G	C			TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr15:96875568G>C	ENST00000394166.3	+	1	1623	c.234G>C	c.(232-234)gaG>gaC	p.E78D	NR2F2_ENST00000421109.2_Intron	NM_021005.3	NP_066285.1	P24468	COT2_HUMAN	nuclear receptor subfamily 2, group F, member 2	78					lipid metabolic process|negative regulation of cyclin-dependent protein kinase activity|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment	nucleus	ligand-regulated transcription factor activity|protein homodimerization activity|retinoic acid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription corepressor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(2)|lung(3)|ovary(2)|urinary_tract(1)	17	Lung NSC(78;0.0186)|Melanoma(26;0.0195)|all_lung(78;0.0297)		OV - Ovarian serous cystadenocarcinoma(32;0.0856)			AACACATCGAGTGCGTGGTGT	0.682													8	13					0	0	1	0	0	C	96875568	G	C	96875568	3	2	460	1	0	0	0	0	1	0	0	0	10676	1020	36	4	283	4	NR2F2	15	96875568	Missense_Mutation	SNP	G	TCGA-TM-A7CA-01A-21D-A33T-08		96875568	5655824	41	36249											
MEFV	4210	broad.mit.edu	37	16	3293588	3293588	+	Silent	SNP	C	C	T			TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr16:3293588C>T	ENST00000219596.1	-	10	1938	c.1899G>A	c.(1897-1899)ccG>ccA	p.P633P	MEFV_ENST00000339854.4_Silent_p.P453P|MEFV_ENST00000541159.1_3'UTR|MEFV_ENST00000536379.1_Silent_p.P422P	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	633	B30.2/SPRY.				inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding			NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50					Colchicine(DB01394)	CAAATCTTTGCGGGCCATCAG	0.517													6	501					0	0	1	0	0	T	3293588	C	T	3293588	2	4	460	1	0	0	0	0	0	0	0	1	9509	755	27	1		1	MEFV	16	3293588	Silent	SNP	C	TCGA-TM-A7CA-01A-21D-A33T-08		3293588	87061165	42	36250											
USP7	7874	broad.mit.edu	37	16	8990887	8990887	+	Missense_Mutation	SNP	C	C	T			TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr16:8990887C>T	ENST00000344836.4	-	26	2986	c.2788G>A	c.(2788-2790)Gag>Aag	p.E930K	USP7_ENST00000535863.1_Missense_Mutation_p.E831K|USP7_ENST00000381886.4_Missense_Mutation_p.E914K	NM_003470.2	NP_003461.2	Q93009	UBP7_HUMAN	ubiquitin specific peptidase 7 (herpes virus-associated)	930					interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process	cytoplasm|PML body	cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	48						TCCCCAAGCTCCACGGCCTTT	0.438													23	448					0	0	1	0	0	T	8990887	C	T	8990887	3	4	460	1	0	0	0	0	1	0	0	0	17148	864	30	2	544	2	USP7	16	8990887	Missense_Mutation	SNP	C	TCGA-TM-A7CA-01A-21D-A33T-08	5697299	8990887	81363866	43	36251											
ALDOA	226	broad.mit.edu	37	16	30081251	30081253	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr16:30081251_30081253delCTC	ENST00000566897.1	+	11	2052_2054	c.900_902delCTC	c.(898-903)ttctcc>ttc	p.S301del	ALDOA_ENST00000412304.2_In_Frame_Del_p.S301del|ALDOA_ENST00000564595.2_In_Frame_Del_p.S355del|ALDOA_ENST00000338110.5_In_Frame_Del_p.S301del|ALDOA_ENST00000564546.1_In_Frame_Del_p.S301del|ALDOA_ENST00000569798.1_In_Frame_Del_p.S301del|ALDOA_ENST00000395240.3_In_Frame_Del_p.S305del|ALDOA_ENST00000395248.1_In_Frame_Del_p.S355del|ALDOA_ENST00000569545.1_In_Frame_Del_p.S301del|ALDOA_ENST00000563060.2_In_Frame_Del_p.S301del			P04075	ALDOA_HUMAN	aldolase A, fructose-bisphosphate	301					actin filament organization|ATP biosynthetic process|fructose 1,6-bisphosphate metabolic process|gluconeogenesis|glycolysis|muscle cell homeostasis|platelet activation|platelet degranulation|protein homotetramerization|regulation of cell shape|striated muscle contraction	actin cytoskeleton|cytosol|extracellular vesicular exosome|I band|platelet alpha granule lumen	actin binding|fructose binding|fructose-bisphosphate aldolase activity|identical protein binding|tubulin binding			breast(2)|cervix(1)|endometrium(4)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	17						CCCTGACCTTCTCCTACGGCCGA	0.621													9	67	---	---	---	---						-	30081253	CTC	-	30081251	7	5	460	1	0	1	0	1	0	0	0	0	504	912	32	0	926	0	ALDOA	16	30081251	In_Frame_Del	DEL	CTC	TCGA-TM-A7CA-01A-21D-A33T-08	21090364	30081251	60273502	44	36252											
TP53	7157	broad.mit.edu	37	17	7574003	7574003	+	Nonsense_Mutation	SNP	G	G	A			TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr17:7574003G>A	ENST00000269305.4	-	10	1213	c.1024C>T	c.(1024-1026)Cga>Tga	p.R342*	TP53_ENST00000413465.2_Intron|TP53_ENST00000420246.2_3'UTR|TP53_ENST00000455263.2_3'UTR|TP53_ENST00000359597.4_Intron|TP53_ENST00000445888.2_Nonsense_Mutation_p.R342*	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	342	Interaction with CARM1.|Interaction with HIPK1 (By similarity).|Interaction with HIPK2.|Oligomerization.		R -> L (in a sporadic cancer; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (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.R342*(70)|p.0?(8)|p.R342fs*3(8)|p.?(1)|p.R342_N345delRELN(1)|p.I332fs*5(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)		TTCAGCTCTCGGAACATCTCG	0.557		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)			22	33					0	0	1	0	0	A	7574003	G	A	7574003	4	1	460	1	0	0	0	0	0	1	0	0	16442	1124	39	1	165	1	TP53	17	7574003	Nonsense_Mutation	SNP	G	TCGA-TM-A7CA-01A-21D-A33T-08		7574003	73621207	45	36253											
TP53	7157	broad.mit.edu	37	17	7579420	7579420	+	Frame_Shift_Del	DEL	G	G	-			TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr17:7579420delG	ENST00000420246.2	-	4	399	c.267delC	c.(265-267)cccfs	p.P89fs	TP53_ENST00000413465.2_Frame_Shift_Del_p.P89fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.P89fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.P89fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.P89fs|TP53_ENST00000269305.4_Frame_Shift_Del_p.P89fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	89	Interaction with WWOX.		P -> L (in sporadic cancers; somatic mutation).|P -> 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.0?(8)|p.S90fs*59(6)|p.A76_S90del15(3)|p.A88fs*32(3)|p.G59fs*23(3)|p.V73fs*9(1)|p.D48fs*55(1)|p.P85fs*58(1)|p.S33fs*23(1)|p.A86fs*33(1)|p.A86fs*32(1)|p.P87fs*54(1)|p.P13fs*18(1)|p.A88fs*52(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)		GGGGCCAGGAGGGGGCTGGTG	0.627		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)			59	98	---	---	---	---						-	7579420	G	-	7579420	7	5	460	1	0	1	0	1	0	0	0	0	16442	987	35	0	1035	0	TP53	17	7579420	Frame_Shift_Del	DEL	G	TCGA-TM-A7CA-01A-21D-A33T-08	5417	7579420	73615790	46	36254											
RPS6KB1	6198	broad.mit.edu	37	17	57990092	57990092	+	Missense_Mutation	SNP	A	A	G			TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr17:57990092A>G	ENST00000225577.4	+	3	260	c.239A>G	c.(238-240)aAc>aGc	p.N80S	RPS6KB1_ENST00000393021.3_Missense_Mutation_p.N27S|RPS6KB1_ENST00000406116.3_Missense_Mutation_p.N80S|RPS6KB1_ENST00000443572.2_Missense_Mutation_p.N80S	NM_001272042.1|NM_001272044.1|NM_001272060.1|NM_003161.2	NP_001258971.1|NP_001258973.1|NP_001258989.1|NP_003152.1	P23443	KS6B1_HUMAN	ribosomal protein S6 kinase, 70kDa, polypeptide 1	80					apoptosis|G1/S transition of mitotic cell cycle|insulin receptor signaling pathway|negative regulation of apoptosis|phosphatidylinositol-mediated signaling|positive regulation of mitotic cell cycle|positive regulation of translational initiation|TOR signaling cascade	cell junction|cytoplasm|cytosol|mitochondrial outer membrane|nucleus|synapse|synaptosome	ATP binding|protein binding|protein kinase activity			endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	14	all_cancers(5;1.63e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.57e-12)|all cancers(12;6.41e-11)			ACTAGTGTGAACAGAGGGCCA	0.368													106	216					0	0	1	0	0	G	57990092	A	G	57990092	3	3	460	1	0	0	0	0	1	0	0	0	13708	43	2	3	249	3	RPS6KB1	17	57990092	Missense_Mutation	SNP	A	TCGA-TM-A7CA-01A-21D-A33T-08	50410672	57990092	23205118	47	36255											
TMC6	11322	broad.mit.edu	37	17	76109632	76109636	+	Frame_Shift_Del	DEL	CTCCT	CTCCT	-			TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr17:76109632_76109636delCTCCT	ENST00000590602.1	-	19	2506_2510	c.2347_2351delAGGAG	c.(2347-2352)aggagcfs	p.RS783fs	TMC6_ENST00000591436.1_Frame_Shift_Del_p.RS362fs|TMC6_ENST00000322933.4_Frame_Shift_Del_p.RS362fs|TMC6_ENST00000322914.3_Frame_Shift_Del_p.RS783fs|TMC6_ENST00000306591.7_Frame_Shift_Del_p.RS432fs|TMC6_ENST00000392467.3_Frame_Shift_Del_p.RS783fs|TMC6_ENST00000592076.1_5'UTR			Q7Z403	TMC6_HUMAN	transmembrane channel-like 6	783						endoplasmic reticulum membrane|integral to membrane				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	14			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			CCCTCACCTGCTCCTCTCCTCCCTC	0.576													37	80	---	---	---	---						-	76109636	CTCCT	-	76109632	7	5	460	1	0	1	0	1	0	0	0	0	16049	797	28	0	74	0	TMC6	17	76109632	Frame_Shift_Del	DEL	CTCCT	TCGA-TM-A7CA-01A-21D-A33T-08	18119540	76109632	5085578	48	36256											
CEP76	79959	broad.mit.edu	37	18	12686414	12686415	+	Frame_Shift_Del	DEL	AT	AT	-			TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr18:12686414_12686415delAT	ENST00000262127.2	-	8	1193_1194	c.968_969delAT	c.(967-969)tatfs	p.Y323fs	CEP76_ENST00000423709.2_Frame_Shift_Del_p.Y248fs|PSMG2_ENST00000589405.1_3'UTR|PSMG2_ENST00000585331.2_Intron	NM_024899.2	NP_079175.2	Q8TAP6	CEP76_HUMAN	centrosomal protein 76kDa	323					G2/M transition of mitotic cell cycle|regulation of centriole replication	centriole|cytosol	protein binding			endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GTGGTTTAACATAGGAACAGAC	0.396													16	270	---	---	---	---						-	12686415	AT	-	12686414	7	5	460	1	0	1	0	1	0	0	0	0	3283	224	8	0	1030	0	CEP76	18	12686414	Frame_Shift_Del	DEL	AT	TCGA-TM-A7CA-01A-21D-A33T-08		12686414	65390834	49	36257											
ZNF44	51710	broad.mit.edu	37	19	12360811	12360811	+	Frame_Shift_Del	DEL	T	T	-			TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr19:12360811delT	ENST00000426973.1	-	3	202	c.203delA	c.(202-204)aacfs	p.N68fs				P15621	ZNF44_HUMAN	zinc finger protein 44	106	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton|nucleus	DNA binding|protein binding|zinc ion binding			ovary(1)	1		Renal(1328;0.157)		GBM - Glioblastoma multiforme(1328;0.0164)|Lung(535;0.179)		TCTCCCCTGGTTTTTGTACTG	0.294													2	4	---	---	---	---						-	12360811	T	-	12360811	7	5	460	1	0	1	0	1	0	0	0	0	17969	1740	60	0		0	ZNF44	19	12360811	Frame_Shift_Del	DEL	T	TCGA-TM-A7CA-01A-21D-A33T-08		12360811	46768172	50	36258											
HAPLN4	404037	broad.mit.edu	37	19	19371787	19371787	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr19:19371787G>A	ENST00000291481.7	-	3	382	c.319C>T	c.(319-321)Cgg>Tgg	p.R107W	AC138430.4_ENST00000586064.2_RNA	NM_023002.2	NP_075378.1	Q86UW8	HPLN4_HUMAN	hyaluronan and proteoglycan link protein 4	107	Ig-like C2-type.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)	16			Epithelial(12;0.00575)			CCGAATGCCCGGTGCTGGGGG	0.701													4	136					0	0	1	0	0	A	19371787	G	A	19371787	3	1	460	1	0	0	0	0	1	0	0	0	6998	1115	39	1	901	1	HAPLN4	19	19371787	Missense_Mutation	SNP	G	TCGA-TM-A7CA-01A-21D-A33T-08	7010976	19371787	39757196	51	36259											
DLL3	10683	broad.mit.edu	37	19	39989627	39989627	+	Missense_Mutation	SNP	C	C	G			TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr19:39989627C>G	ENST00000205143.4	+	1	20	c.13C>G	c.(13-15)Cgg>Ggg	p.R5G	DLL3_ENST00000600579.1_3'UTR|DLL3_ENST00000356433.5_Missense_Mutation_p.R5G	NM_016941.3	NP_058637.1	Q9NYJ7	DLL3_HUMAN	delta-like 3 (Drosophila)	5					Notch signaling pathway|skeletal system development	integral to membrane	Notch binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7)	19	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			GGTCTCCCCACGGATGTCCGG	0.622													9	172					0	0	1	0	0	G	39989627	C	G	39989627	3	3	460	1	0	0	0	0	1	0	0	0	4595	527	19	5	15	5	DLL3	19	39989627	Missense_Mutation	SNP	C	TCGA-TM-A7CA-01A-21D-A33T-08	20617840	39989627	19139356	52	36260											
PROKR2	128674	broad.mit.edu	37	20	5282783	5282783	+	Missense_Mutation	SNP	C	C	T			TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr20:5282783C>T	ENST00000546004.1	-	3	1304	c.1058G>A	c.(1057-1059)cGt>cAt	p.R353H	PROKR2_ENST00000217270.3_Missense_Mutation_p.R353H			Q8NFJ6	PKR2_HUMAN	prokineticin receptor 2	353						integral to membrane|plasma membrane	neuropeptide Y receptor activity	p.R353H(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						CTGGGAGGGACGCCAGTGCAG	0.557										HNSCC(71;0.22)			40	107					0	0	1	0	0	T	5282783	C	T	5282783	3	4	460	1	0	0	0	0	1	0	0	0	12605	536	19	1	99	1	PROKR2	20	5282783	Missense_Mutation	SNP	C	TCGA-TM-A7CA-01A-21D-A33T-08		5282783	57742737	53	36261											
ATRX	546	broad.mit.edu	37	X	76890157	76890158	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chrX:76890157_76890158delCA	ENST00000373344.5	-	17	4950_4951	c.4736_4737delTG	c.(4735-4737)gtgfs	p.V1579fs	ATRX_ENST00000395603.3_Frame_Shift_Del_p.V1541fs|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1579					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)	TTGTTTTTTTCACAGACTCACA	0.366			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						162	32	---	---	---	---						-	76890158	CA	-	76890157	7	5	460	1	0	1	0	1	0	0	0	0	1206	813	29	0	2817	0	ATRX	23	76890157	Frame_Shift_Del	DEL	CA	TCGA-TM-A7CA-01A-21D-A33T-08		76890157	78380403	54	36262											
THRAP3	9967	broad.mit.edu	37	1	36752690	36752690	+	Missense_Mutation	SNP	C	C	G			TCGA-TM-A7CF-01A-11D-A32B-08	TCGA-TM-A7CF-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	979f7fd8-ab07-40a0-869a-d08fb8e598ff	c6066220-b6fd-47d0-8daf-6eceb9a01b57	g.chr1:36752690C>G	ENST00000354618.5	+	4	1083	c.859C>G	c.(859-861)Ctg>Gtg	p.L287V	THRAP3_ENST00000469141.2_Missense_Mutation_p.L287V	NM_005119.3	NP_005110.2	Q9Y2W1	TR150_HUMAN	thyroid hormone receptor associated protein 3	287	Ser-rich.				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ATP binding|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GGGCTCAACTCTGCCGAGTGG	0.602			T	USP6	aneurysmal bone cysts								29	55					0	0	1	0	0	G	36752690	C	G	36752690	3	3	461	1	0	0	0	0	1	0	0	0	15934	912	32	4	865	4	THRAP3	1	36752690	Missense_Mutation	SNP	C	TCGA-TM-A7CF-01A-11D-A32B-08		36752690	212497931	1	36263											
CELSR2	1952	broad.mit.edu	37	1	109810235	109810235	+	Missense_Mutation	SNP	T	T	C			TCGA-TM-A7CF-01A-11D-A32B-08	TCGA-TM-A7CF-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	979f7fd8-ab07-40a0-869a-d08fb8e598ff	c6066220-b6fd-47d0-8daf-6eceb9a01b57	g.chr1:109810235T>C	ENST00000271332.3	+	16	6140	c.6079T>C	c.(6079-6081)Tcc>Ccc	p.S2027P		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	2027					dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		CAACTGCACGTCCATCACCTT	0.592													24	55					0	0	1	0	0	C	109810235	T	C	109810235	3	2	461	1	0	0	0	0	1	0	0	0	3244	1667	58	3	6141	3	CELSR2	1	109810235	Missense_Mutation	SNP	T	TCGA-TM-A7CF-01A-11D-A32B-08	73057545	109810235	139440386	2	36264											
OTOF	9381	broad.mit.edu	37	2	26690046	26690046	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A7CF-01A-11D-A32B-08	TCGA-TM-A7CF-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	979f7fd8-ab07-40a0-869a-d08fb8e598ff	c6066220-b6fd-47d0-8daf-6eceb9a01b57	g.chr2:26690046G>A	ENST00000272371.2	-	35	4409	c.4283C>T	c.(4282-4284)aCt>aTt	p.T1428I	OTOF_ENST00000338581.6_Missense_Mutation_p.T661I|OTOF_ENST00000339598.3_Missense_Mutation_p.T661I|OTOF_ENST00000403946.3_Missense_Mutation_p.T1428I|OTOF_ENST00000402415.3_Missense_Mutation_p.T738I	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	1428					cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CAAGTTGAAAGTGTGCAGCCA	0.597													4	107					0	0	1	0	0	A	26690046	G	A	26690046	3	1	461	1	0	0	0	0	1	0	0	0	11350	1029	36	2	1943	2	OTOF	2	26690046	Missense_Mutation	SNP	G	TCGA-TM-A7CF-01A-11D-A32B-08		26690046	216509327	3	36265											
TGFBRAP1	9392	broad.mit.edu	37	2	105912881	105912881	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A7CF-01A-11D-A32B-08	TCGA-TM-A7CF-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	979f7fd8-ab07-40a0-869a-d08fb8e598ff	c6066220-b6fd-47d0-8daf-6eceb9a01b57	g.chr2:105912881G>A	ENST00000393359.2	-	4	1396	c.970C>T	c.(970-972)Cgc>Tgc	p.R324C	TGFBRAP1_ENST00000258449.1_Missense_Mutation_p.R324C			Q8WUH2	TGFA1_HUMAN	transforming growth factor, beta receptor associated protein 1	324					regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|membrane	SMAD binding|small GTPase regulator activity|transforming growth factor beta receptor binding			central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	31						TCTACTCTGCGGCTTGCTAGA	0.403													4	111					0	0	1	0	0	A	105912881	G	A	105912881	3	1	461	1	0	0	0	0	1	0	0	0	15884	1116	39	1	1648	1	TGFBRAP1	2	105912881	Missense_Mutation	SNP	G	TCGA-TM-A7CF-01A-11D-A32B-08	79222835	105912881	137286492	4	36266											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-TM-A7CF-01A-11D-A32B-08	TCGA-TM-A7CF-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	979f7fd8-ab07-40a0-869a-d08fb8e598ff	c6066220-b6fd-47d0-8daf-6eceb9a01b57	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								23	54					0	0	1	0	0	T	209113112	C	T	209113112	3	4	461	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-TM-A7CF-01A-11D-A32B-08	103200231	209113112	34086261	5	36267											
USP37	57695	broad.mit.edu	37	2	219418378	219418378	+	Silent	SNP	G	G	A			TCGA-TM-A7CF-01A-11D-A32B-08	TCGA-TM-A7CF-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	979f7fd8-ab07-40a0-869a-d08fb8e598ff	c6066220-b6fd-47d0-8daf-6eceb9a01b57	g.chr2:219418378G>A	ENST00000258399.3	-	5	638	c.226C>T	c.(226-228)Ctg>Ttg	p.L76L	USP37_ENST00000454775.1_Silent_p.L76L|USP37_ENST00000418019.1_Silent_p.L76L|USP37_ENST00000338465.5_Silent_p.L76L|USP37_ENST00000415516.1_Silent_p.L4L	NM_020935.2	NP_065986	Q86T82	UBP37_HUMAN	ubiquitin specific peptidase 37	76					ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			NS(2)|breast(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(5)|stomach(1)	35		Renal(207;0.0915)		Epithelial(149;1.08e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.00375)|Lung(261;0.00487)		TTATCTTGCAGAGTTAACATT	0.393													4	56					0	0	1	0	0	A	219418378	G	A	219418378	2	1	461	1	0	0	0	0	0	0	0	1	17128	933	33	2		2	USP37	2	219418378	Silent	SNP	G	TCGA-TM-A7CF-01A-11D-A32B-08	10305266	219418378	23780995	6	36268											
GMPPA	29926	broad.mit.edu	37	2	220371481	220371481	+	Missense_Mutation	SNP	G	G	C			TCGA-TM-A7CF-01A-11D-A32B-08	TCGA-TM-A7CF-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	979f7fd8-ab07-40a0-869a-d08fb8e598ff	c6066220-b6fd-47d0-8daf-6eceb9a01b57	g.chr2:220371481G>C	ENST00000358215.3	+	13	1593	c.1224G>C	c.(1222-1224)aaG>aaC	p.K408N	GMPPA_ENST00000341142.3_Missense_Mutation_p.K408N|GMPPA_ENST00000313597.5_Missense_Mutation_p.K408N|AC053503.11_ENST00000429882.1_RNA|GMPPA_ENST00000373917.3_Missense_Mutation_p.K461N|GMPPA_ENST00000373908.1_Missense_Mutation_p.K408N	NM_205847.2	NP_995319.1	Q96IJ6	GMPPA_HUMAN	GDP-mannose pyrophosphorylase A	408					dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine		GTP binding|mannose-1-phosphate guanylyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	20		Renal(207;0.0183)		Epithelial(149;3.82e-10)|all cancers(144;6.25e-08)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00807)|READ - Rectum adenocarcinoma(5;0.148)		TGCCACACAAGGAGCTGAGCC	0.617													14	27					0	0	1	0	0	C	220371481	G	C	220371481	3	2	461	1	0	0	0	0	1	0	0	0	6536	991	35	4	1270	4	GMPPA	2	220371481	Missense_Mutation	SNP	G	TCGA-TM-A7CF-01A-11D-A32B-08	953103	220371481	22827892	7	36269											
DOCK10	55619	broad.mit.edu	37	2	225740826	225740826	+	Missense_Mutation	SNP	C	C	T			TCGA-TM-A7CF-01A-11D-A32B-08	TCGA-TM-A7CF-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	979f7fd8-ab07-40a0-869a-d08fb8e598ff	c6066220-b6fd-47d0-8daf-6eceb9a01b57	g.chr2:225740826C>T	ENST00000409592.3	-	8	955	c.842G>A	c.(841-843)cGc>cAc	p.R281H	DOCK10_ENST00000258390.7_Missense_Mutation_p.R287H			Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	287	PH.						GTP binding	p.R287H(1)		NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		TTGCAGAATGCGGTTGAGGGT	0.488													3	37					0	0	1	0	0	T	225740826	C	T	225740826	3	4	461	1	0	0	0	0	1	0	0	0	4712	768	27	1	5896	1	DOCK10	2	225740826	Missense_Mutation	SNP	C	TCGA-TM-A7CF-01A-11D-A32B-08	5369345	225740826	17458547	8	36270											
OTOS	150677	broad.mit.edu	37	2	241078762	241078762	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A7CF-01A-11D-A32B-08	TCGA-TM-A7CF-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	979f7fd8-ab07-40a0-869a-d08fb8e598ff	c6066220-b6fd-47d0-8daf-6eceb9a01b57	g.chr2:241078762G>A	ENST00000391989.2	-	5	325	c.95C>T	c.(94-96)gCg>gTg	p.A32V	OTOS_ENST00000319460.1_Missense_Mutation_p.A32V			Q8NHW6	OTOSP_HUMAN	otospiralin	32						extracellular region				endometrium(2)|large_intestine(1)|lung(3)	6		all_epithelial(40;2.79e-15)|Breast(86;3.04e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0396)|Lung NSC(271;0.128)|Hepatocellular(293;0.148)|all_hematologic(139;0.158)|Melanoma(123;0.16)		Epithelial(32;2.56e-30)|all cancers(36;7.18e-28)|OV - Ovarian serous cystadenocarcinoma(60;2.37e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;8.07e-06)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)|Colorectal(34;0.019)|COAD - Colon adenocarcinoma(134;0.141)		CGGCAGCTCCGCGTAAGGGTC	0.602													41	65					0	0	1	0	0	A	241078762	G	A	241078762	3	1	461	1	0	0	0	0	1	0	0	0	11356	1087	38	1	178	1	OTOS	2	241078762	Missense_Mutation	SNP	G	TCGA-TM-A7CF-01A-11D-A32B-08	15337936	241078762	2120611	9	36271											
IQSEC1	9922	broad.mit.edu	37	3	12950911	12950911	+	Missense_Mutation	SNP	T	T	G			TCGA-TM-A7CF-01A-11D-A32B-08	TCGA-TM-A7CF-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	979f7fd8-ab07-40a0-869a-d08fb8e598ff	c6066220-b6fd-47d0-8daf-6eceb9a01b57	g.chr3:12950911T>G	ENST00000273221.4	-	11	2698	c.2482A>C	c.(2482-2484)Acc>Ccc	p.T828P		NM_014869.5	NP_055684.3	Q6DN90	IQEC1_HUMAN	IQ motif and Sec7 domain 1	828	PH.				regulation of ARF protein signal transduction	cytoplasm|nucleus	ARF guanyl-nucleotide exchange factor activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						ACAGACGAGGTGAGCCGGATG	0.547													8	82					0	0	1	0	0	G	12950911	T	G	12950911	3	3	461	1	0	0	0	0	1	0	0	0	7861	1696	59	5	970	5	IQSEC1	3	12950911	Missense_Mutation	SNP	T	TCGA-TM-A7CF-01A-11D-A32B-08		12950911	185071519	10	36272											
ADAMTS9	56999	broad.mit.edu	37	3	64640136	64640136	+	Splice_Site	SNP	T	T	C			TCGA-TM-A7CF-01A-11D-A32B-08	TCGA-TM-A7CF-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	979f7fd8-ab07-40a0-869a-d08fb8e598ff	c6066220-b6fd-47d0-8daf-6eceb9a01b57	g.chr3:64640136T>C	ENST00000498707.1	-	8	1553		c.e8-2		ADAMTS9_ENST00000459780.1_Splice_Site|ADAMTS9_ENST00000295903.4_Splice_Site	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9						glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		CAGCCAGGCCTATTAGAAGGA	0.403													8	102					0	0	1	0	0	C	64640136	T	C	64640136	5	2	461	1	0	0	0	0	0	0	1	0	272	1536	53	3	4726	3	ADAMTS9	3	64640136	Splice_Site	SNP	T	TCGA-TM-A7CF-01A-11D-A32B-08	51689225	64640136	133382294	11	36273											
MECOM	2122	broad.mit.edu	37	3	168833702	168833702	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A7CF-01A-11D-A32B-08	TCGA-TM-A7CF-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	979f7fd8-ab07-40a0-869a-d08fb8e598ff	c6066220-b6fd-47d0-8daf-6eceb9a01b57	g.chr3:168833702G>A	ENST00000464456.1	-	7	2594	c.1394C>T	c.(1393-1395)gCg>gTg	p.A465V	MECOM_ENST00000494292.1_Missense_Mutation_p.A653V|MECOM_ENST00000392736.3_Missense_Mutation_p.A465V|MECOM_ENST00000468789.1_Missense_Mutation_p.A465V|MECOM_ENST00000433243.2_Missense_Mutation_p.A466V|MECOM_ENST00000264674.3_Missense_Mutation_p.A530V|MECOM_ENST00000460814.1_Missense_Mutation_p.A465V|MECOM_ENST00000472280.1_Missense_Mutation_p.A466V	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						TCCTGACACCGCAGTCTGCTC	0.388													4	103					0	0	1	0	0	A	168833702	G	A	168833702	3	1	461	1	0	0	0	0	1	0	0	0	9472	1087	38	1	1801	1	MECOM	3	168833702	Missense_Mutation	SNP	G	TCGA-TM-A7CF-01A-11D-A32B-08	104193566	168833702	29188728	12	36274											
SLC7A14	57709	broad.mit.edu	37	3	170198095	170198095	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A7CF-01A-11D-A32B-08	TCGA-TM-A7CF-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	979f7fd8-ab07-40a0-869a-d08fb8e598ff	c6066220-b6fd-47d0-8daf-6eceb9a01b57	g.chr3:170198095G>A	ENST00000231706.5	-	7	2291	c.1976C>T	c.(1975-1977)gCg>gTg	p.A659V	CLDN11_ENST00000486975.1_Intron|CLDN11_ENST00000451576.1_Intron	NM_020949.2	NP_066000.2	Q8TBB6	S7A14_HUMAN	solute carrier family 7, member 14							integral to membrane	amino acid transmembrane transporter activity	p.A659V(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4)	53	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)			GCACCAGACCGCAAACCGGAT	0.498													4	134					0	0	1	0	0	A	170198095	G	A	170198095	3	1	461	1	0	0	0	0	1	0	0	0	14751	1087	38	1	347	1	SLC7A14	3	170198095	Missense_Mutation	SNP	G	TCGA-TM-A7CF-01A-11D-A32B-08	1364393	170198095	27824335	13	36275											
UGT2B7	7364	broad.mit.edu	37	4	69973922	69973922	+	Missense_Mutation	SNP	G	G	A	rs145725367		TCGA-TM-A7CF-01A-11D-A32B-08	TCGA-TM-A7CF-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	979f7fd8-ab07-40a0-869a-d08fb8e598ff	c6066220-b6fd-47d0-8daf-6eceb9a01b57	g.chr4:69973922G>A	ENST00000305231.7	+	5	1238	c.1192G>A	c.(1192-1194)Gat>Aat	p.D398N	UGT2B7_ENST00000509763.1_Intron|UGT2B7_ENST00000508661.1_Intron	NM_001074.2	NP_001065.2	P16662	UD2B7_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B7	398					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						ATTGTTTGCCGATCAACCTGA	0.473													13	145					0	0	1	0	0	A	69973922	G	A	69973922	3	1	461	1	0	0	0	0	1	0	0	0	17022	1058	37	1	1210	1	UGT2B7	4	69973922	Missense_Mutation	SNP	G	TCGA-TM-A7CF-01A-11D-A32B-08		69973922	121180354	14	36276											
FRAS1	80144	broad.mit.edu	37	4	79462267	79462267	+	Missense_Mutation	SNP	A	A	C			TCGA-TM-A7CF-01A-11D-A32B-08	TCGA-TM-A7CF-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	979f7fd8-ab07-40a0-869a-d08fb8e598ff	c6066220-b6fd-47d0-8daf-6eceb9a01b57	g.chr4:79462267A>C	ENST00000264895.6	+	74	12468	c.12028A>C	c.(12028-12030)Aca>Cca	p.T4010P		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	4005					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						ACAAGATGGAACAGAAGTTTA	0.353													8	23					0	0	1	0	0	C	79462267	A	C	79462267	3	2	461	1	0	0	0	0	1	0	0	0	6076	43	2	5	12397	5	FRAS1	4	79462267	Missense_Mutation	SNP	A	TCGA-TM-A7CF-01A-11D-A32B-08	9488345	79462267	111692009	15	36277											
FGA	2243	broad.mit.edu	37	4	155505941	155505941	+	Missense_Mutation	SNP	C	C	A			TCGA-TM-A7CF-01A-11D-A32B-08	TCGA-TM-A7CF-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	979f7fd8-ab07-40a0-869a-d08fb8e598ff	c6066220-b6fd-47d0-8daf-6eceb9a01b57	g.chr4:155505941C>A	ENST00000302053.3	-	6	2014	c.1936G>T	c.(1936-1938)Ggc>Tgc	p.G646C		NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	646	Fibrinogen C-terminal.				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	TTGAAAATGCCACTTTGGGTA	0.373													13	63					4.3838e-07	4.66214e-07	1	1	0	A	155505941	C	A	155505941	3	1	461	1	0	0	0	0	1	0	0	0	5863	594	21	5	668	5	FGA	4	155505941	Missense_Mutation	SNP	C	TCGA-TM-A7CF-01A-11D-A32B-08	76043674	155505941	35648335	16	36278											
FASTKD3	79072	broad.mit.edu	37	5	7867503	7867504	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-TM-A7CF-01A-11D-A32B-08	TCGA-TM-A7CF-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	979f7fd8-ab07-40a0-869a-d08fb8e598ff	c6066220-b6fd-47d0-8daf-6eceb9a01b57	g.chr5:7867503_7867504delCT	ENST00000264669.5	-	2	829_830	c.693_694delAG	c.(691-696)tcaggtfs	p.G232fs	MTRR_ENST00000502509.1_Intron|FASTKD3_ENST00000513658.1_Intron	NM_024091.3	NP_076996.2	Q14CZ7	FAKD3_HUMAN	FAST kinase domains 3	232					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						GTCACACAACCTGAACTGTGCA	0.421													10	78	---	---	---	---						-	7867504	CT	-	7867503	7	5	461	1	0	1	0	1	0	0	0	0	5720	681	24	0	1318	0	FASTKD3	5	7867503	Frame_Shift_Del	DEL	CT	TCGA-TM-A7CF-01A-11D-A32B-08		7867503	173047757	17	36279											
GPR98	84059	broad.mit.edu	37	5	89989828	89989828	+	Missense_Mutation	SNP	C	C	G			TCGA-TM-A7CF-01A-11D-A32B-08	TCGA-TM-A7CF-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	979f7fd8-ab07-40a0-869a-d08fb8e598ff	c6066220-b6fd-47d0-8daf-6eceb9a01b57	g.chr5:89989828C>G	ENST00000405460.2	+	33	7351	c.7255C>G	c.(7255-7257)Cct>Gct	p.P2419A		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	2419					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TCAAGGGGTGCCTGACCCACT	0.488													15	16					0	0	1	0	0	G	89989828	C	G	89989828	3	3	461	1	0	0	0	0	1	0	0	0	6762	739	26	5	7385	5	GPR98	5	89989828	Missense_Mutation	SNP	C	TCGA-TM-A7CF-01A-11D-A32B-08	82122325	89989828	90925432	18	36280											
PPP1R10	5514	broad.mit.edu	37	6	30570090	30570090	+	Missense_Mutation	SNP	C	C	T			TCGA-TM-A7CF-01A-11D-A32B-08	TCGA-TM-A7CF-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	979f7fd8-ab07-40a0-869a-d08fb8e598ff	c6066220-b6fd-47d0-8daf-6eceb9a01b57	g.chr6:30570090C>T	ENST00000376511.2	-	19	2888	c.2336G>A	c.(2335-2337)aGt>aAt	p.S779N		NM_002714.3	NP_002705.2	Q96QC0	PP1RA_HUMAN	protein phosphatase 1, regulatory subunit 10	779	Gly-rich.				protein import into nucleus|transcription, DNA-dependent	PTW/PP1 phosphatase complex	DNA binding|protein phosphatase inhibitor activity|RNA binding|zinc ion binding			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1)	25						GCGATGCCCACTTCCCATGCC	0.672													11	216					0	0	1	0	0	T	30570090	C	T	30570090	3	4	461	1	0	0	0	0	1	0	0	0	12401	565	20	2	494	2	PPP1R10	6	30570090	Missense_Mutation	SNP	C	TCGA-TM-A7CF-01A-11D-A32B-08		30570090	140544977	19	36281											
TMEM14A	28978	broad.mit.edu	37	6	52548949	52548949	+	Missense_Mutation	SNP	G	G	C			TCGA-TM-A7CF-01A-11D-A32B-08	TCGA-TM-A7CF-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	979f7fd8-ab07-40a0-869a-d08fb8e598ff	c6066220-b6fd-47d0-8daf-6eceb9a01b57	g.chr6:52548949G>C	ENST00000211314.4	+	4	399	c.246G>C	c.(244-246)ttG>ttC	p.L82F		NM_014051.3	NP_054770.1	Q9Y6G1	TM14A_HUMAN	transmembrane protein 14A	82						integral to membrane				endometrium(2)|lung(2)	4	Lung NSC(77;0.118)					CTGCTGGTTTGGTTGCAGGTT	0.348													17	51					0	0	1	0	0	C	52548949	G	C	52548949	3	2	461	1	0	0	0	0	1	0	0	0	16123	1339	47	5	256	5	TMEM14A	6	52548949	Missense_Mutation	SNP	G	TCGA-TM-A7CF-01A-11D-A32B-08	21978859	52548949	118566118	20	36282											
RNGTT	8732	broad.mit.edu	37	6	89638748	89638748	+	Missense_Mutation	SNP	C	C	T			TCGA-TM-A7CF-01A-11D-A32B-08	TCGA-TM-A7CF-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	979f7fd8-ab07-40a0-869a-d08fb8e598ff	c6066220-b6fd-47d0-8daf-6eceb9a01b57	g.chr6:89638748C>T	ENST00000369485.4	-	4	509	c.323G>A	c.(322-324)cGt>cAt	p.R108H	RNGTT_ENST00000265607.6_Missense_Mutation_p.R108H|RNGTT_ENST00000538899.1_Missense_Mutation_p.R48H|RNGTT_ENST00000369475.3_Missense_Mutation_p.R108H	NM_003800.3	NP_003791.3	O60942	MCE1_HUMAN	RNA guanylyltransferase and 5'-phosphatase	108	TPase.				interspecies interaction between organisms|mRNA capping|transcription from RNA polymerase II promoter|viral reproduction	nucleoplasm	GTP binding|mRNA guanylyltransferase activity|polynucleotide 5'-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.R108H(1)		endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	21		all_cancers(76;4.07e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;6.86e-05)		BRCA - Breast invasive adenocarcinoma(108;0.151)		CTCACACAGACGAATAAAGGT	0.343													7	63					0	0	1	0	0	T	89638748	C	T	89638748	3	4	461	1	0	0	0	0	1	0	0	0	13555	536	19	1	1522	1	RNGTT	6	89638748	Missense_Mutation	SNP	C	TCGA-TM-A7CF-01A-11D-A32B-08	37089799	89638748	81476319	21	36283											
ALDH1B1	219	broad.mit.edu	37	9	38396184	38396184	+	Silent	SNP	C	C	A			TCGA-TM-A7CF-01A-11D-A32B-08	TCGA-TM-A7CF-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	979f7fd8-ab07-40a0-869a-d08fb8e598ff	c6066220-b6fd-47d0-8daf-6eceb9a01b57	g.chr9:38396184C>A	ENST00000377698.3	+	2	592	c.439C>A	c.(439-441)Cgg>Agg	p.R147R		NM_000692.4	NP_000683.3	P30837	AL1B1_HUMAN	aldehyde dehydrogenase 1 family, member B1	147					carbohydrate metabolic process	mitochondrial matrix|nucleus	aldehyde dehydrogenase (NAD) activity			NS(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(2)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(29;0.043)|Lung(182;0.115)	NADH(DB00157)	CAAGGTGTATCGGTACTTTGC	0.557													4	126					0.150653	0.150653	1	1	0	A	38396184	C	A	38396184	2	1	461	1	0	0	0	0	0	0	0	1	490	875	31	5		5	ALDH1B1	9	38396184	Silent	SNP	C	TCGA-TM-A7CF-01A-11D-A32B-08		38396184	102817247	22	36284											
NOTCH1	4851	broad.mit.edu	37	9	139404380	139404380	+	Missense_Mutation	SNP	C	C	T			TCGA-TM-A7CF-01A-11D-A32B-08	TCGA-TM-A7CF-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	979f7fd8-ab07-40a0-869a-d08fb8e598ff	c6066220-b6fd-47d0-8daf-6eceb9a01b57	g.chr9:139404380C>T	ENST00000277541.6	-	18	2849	c.2774G>A	c.(2773-2775)gGc>gAc	p.G925D		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	925	EGF-like 24.				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CGTGTTGATGCCGTCTGTGCA	0.672			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			4	93					0	0	1	0	0	T	139404380	C	T	139404380	3	4	461	1	0	0	0	0	1	0	0	0	10594	739	26	2	4961	2	NOTCH1	9	139404380	Missense_Mutation	SNP	C	TCGA-TM-A7CF-01A-11D-A32B-08	101008196	139404380	1809051	23	36285											
OR52E4	390081	broad.mit.edu	37	11	5906021	5906021	+	Missense_Mutation	SNP	C	C	T			TCGA-TM-A7CF-01A-11D-A32B-08	TCGA-TM-A7CF-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	979f7fd8-ab07-40a0-869a-d08fb8e598ff	c6066220-b6fd-47d0-8daf-6eceb9a01b57	g.chr11:5906021C>T	ENST00000316987.2	+	1	521	c.499C>T	c.(499-501)Cgt>Tgt	p.R167C		NM_001005165.1	NP_001005165.1	Q8NGH9	O52E4_HUMAN	olfactory receptor, family 52, subfamily E, member 4	167					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R167G(1)		autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(2)|prostate(1)|skin(2)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCTCATTCTGCGTCTGCCATT	0.453													47	85					0	0	1	0	0	T	5906021	C	T	5906021	3	4	461	1	0	0	0	0	1	0	0	0	11164	768	27	1	501	1	OR52E4	11	5906021	Missense_Mutation	SNP	C	TCGA-TM-A7CF-01A-11D-A32B-08		5906021	129100495	24	36286											
DCDC1	341019	broad.mit.edu	37	11	30942332	30942332	+	Translation_Start_Site	SNP	C	C	T			TCGA-TM-A7CF-01A-11D-A32B-08	TCGA-TM-A7CF-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	979f7fd8-ab07-40a0-869a-d08fb8e598ff	c6066220-b6fd-47d0-8daf-6eceb9a01b57	g.chr11:30942332C>T	ENST00000406071.2	-	0	920				DCDC1_ENST00000597505.1_Missense_Mutation_p.S1095N|DCDC1_ENST00000339794.5_Missense_Mutation_p.S174N			P59894	DCDC1_HUMAN	doublecortin domain containing 1						intracellular signal transduction					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					CAGAATTTCACTGGAAGCATT	0.438													11	19					0	0	1	0	0	T	30942332	C	T	30942332	1	4	461	1	0	0	0	0	0	0	0	0	4307	580	20	2		2	DCDC1	11	30942332	Translation_Start_Site	SNP	C	TCGA-TM-A7CF-01A-11D-A32B-08	25036311	30942332	104064184	25	36287											
PKNOX2	63876	broad.mit.edu	37	11	125299879	125299879	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A7CF-01A-11D-A32B-08	TCGA-TM-A7CF-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	979f7fd8-ab07-40a0-869a-d08fb8e598ff	c6066220-b6fd-47d0-8daf-6eceb9a01b57	g.chr11:125299879G>A	ENST00000298282.9	+	12	1305	c.1034G>A	c.(1033-1035)cGc>cAc	p.R345H	PKNOX2_ENST00000542175.1_Missense_Mutation_p.R281H|PKNOX2_ENST00000530517.1_3'UTR	NM_022062.2	NP_071345.2	Q96KN3	PKNX2_HUMAN	PBX/knotted 1 homeobox 2	345						nucleus	sequence-specific DNA binding transcription factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(14)|ovary(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	29		Breast(109;0.00234)|all_lung(97;0.0191)|Lung NSC(97;0.0196)|Medulloblastoma(222;0.0447)|all_neural(223;0.116)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.117)		GCCCGGAGGCGCATCCTGCAG	0.597													4	172					0	0	1	0	0	A	125299879	G	A	125299879	3	1	461	1	0	0	0	0	1	0	0	0	12031	1087	38	1	1068	1	PKNOX2	11	125299879	Missense_Mutation	SNP	G	TCGA-TM-A7CF-01A-11D-A32B-08	94357547	125299879	9706637	26	36288											
LPCAT3	10162	broad.mit.edu	37	12	7086824	7086824	+	Missense_Mutation	SNP	C	C	T			TCGA-TM-A7CF-01A-11D-A32B-08	TCGA-TM-A7CF-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	979f7fd8-ab07-40a0-869a-d08fb8e598ff	c6066220-b6fd-47d0-8daf-6eceb9a01b57	g.chr12:7086824C>T	ENST00000261407.4	-	10	1209	c.1124G>A	c.(1123-1125)gGc>gAc	p.G375D	LPCAT3_ENST00000535021.1_Intron	NM_005768.5	NP_005759.4	Q6P1A2	MBOA5_HUMAN	lysophosphatidylcholine acyltransferase 3	375					phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	1-acylglycerophosphocholine O-acyltransferase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|skin(2)	17						TGAGTGCAGGCCGTGCCAGAG	0.507													8	153					0	0	1	0	0	T	7086824	C	T	7086824	3	4	461	1	0	0	0	0	1	0	0	0	8957	739	26	2	351	2	LPCAT3	12	7086824	Missense_Mutation	SNP	C	TCGA-TM-A7CF-01A-11D-A32B-08		7086824	126765071	27	36289											
CLEC6A	93978	broad.mit.edu	37	12	8612205	8612205	+	Missense_Mutation	SNP	T	T	G			TCGA-TM-A7CF-01A-11D-A32B-08	TCGA-TM-A7CF-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	979f7fd8-ab07-40a0-869a-d08fb8e598ff	c6066220-b6fd-47d0-8daf-6eceb9a01b57	g.chr12:8612205T>G	ENST00000382073.3	+	3	320	c.134T>G	c.(133-135)tTt>tGt	p.F45C		NM_001007033.1	NP_001007034.1	Q6EIG7	CLC6A_HUMAN	C-type lectin domain family 6, member A	45					defense response to fungus|innate immune response|positive regulation of cytokine secretion|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane	sugar binding			breast(1)|large_intestine(2)|lung(7)	10	Lung SC(5;0.184)					ACTTACCATTTTACATATGGT	0.393													13	135					0	0	1	0	0	G	8612205	T	G	8612205	3	3	461	1	0	0	0	0	1	0	0	0	3543	1841	64	5	144	5	CLEC6A	12	8612205	Missense_Mutation	SNP	T	TCGA-TM-A7CF-01A-11D-A32B-08	1525381	8612205	125239690	28	36290	151	2									
CLEC6A	93978	broad.mit.edu	37	12	8612215	8612215	+	Silent	SNP	T	T	G			TCGA-TM-A7CF-01A-11D-A32B-08	TCGA-TM-A7CF-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	979f7fd8-ab07-40a0-869a-d08fb8e598ff	c6066220-b6fd-47d0-8daf-6eceb9a01b57	g.chr12:8612215T>G	ENST00000382073.3	+	3	330	c.144T>G	c.(142-144)ggT>ggG	p.G48G		NM_001007033.1	NP_001007034.1	Q6EIG7	CLC6A_HUMAN	C-type lectin domain family 6, member A	48					defense response to fungus|innate immune response|positive regulation of cytokine secretion|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane	sugar binding			breast(1)|large_intestine(2)|lung(7)	10	Lung SC(5;0.184)					TTACATATGGTGAAACTGGCA	0.378													13	134					0	0	1	0	0	G	8612215	T	G	8612215	2	3	461	1	0	0	0	0	0	0	0	1	3543	1683	59	5		5	CLEC6A	12	8612215	Silent	SNP	T	TCGA-TM-A7CF-01A-11D-A32B-08	10	8612215	125239680	29	36291	151	2									
KRT81	3887	broad.mit.edu	37	12	52685222	52685222	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A7CF-01A-11D-A32B-08	TCGA-TM-A7CF-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	979f7fd8-ab07-40a0-869a-d08fb8e598ff	c6066220-b6fd-47d0-8daf-6eceb9a01b57	g.chr12:52685222G>A	ENST00000327741.5	-	1	96	c.28C>T	c.(28-30)Cgc>Tgc	p.R10C	KRT86_ENST00000544024.1_Intron|KRT86_ENST00000423955.2_Intron	NM_002281.3	NP_002272.2	Q14533	KRT81_HUMAN	keratin 81	10	Head.					keratin filament	protein binding|structural molecule activity			breast(2)|endometrium(3)|large_intestine(3)|lung(6)|prostate(1)|stomach(1)	16				BRCA - Breast invasive adenocarcinoma(357;0.189)		CTGAAGGCGCGCCCACCAAAT	0.657													5	18					0	0	1	0	0	A	52685222	G	A	52685222	3	1	461	1	0	0	0	0	1	0	0	0	8538	1087	38	1	1525	1	KRT81	12	52685222	Missense_Mutation	SNP	G	TCGA-TM-A7CF-01A-11D-A32B-08	44073007	52685222	81166673	30	36292											
MYO1H	283446	broad.mit.edu	37	12	109831174	109831174	+	Frame_Shift_Del	DEL	C	C	-			TCGA-TM-A7CF-01A-11D-A32B-08	TCGA-TM-A7CF-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	979f7fd8-ab07-40a0-869a-d08fb8e598ff	c6066220-b6fd-47d0-8daf-6eceb9a01b57	g.chr12:109831174delC	ENST00000310903.5	+	3	271	c.165delC	c.(163-165)tacfs	p.Y55fs	MYO1H_ENST00000431443.2_Frame_Shift_Del_p.Y55fs			B4DNW6	B4DNW6_HUMAN	myosin IH	181						myosin complex	motor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(17)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	47						TGAATCCATACCAGGAGCTCG	0.453													2	4	---	---	---	---						-	109831174	C	-	109831174	7	5	461	1	0	1	0	1	0	0	0	0	10123	518	18	0	171	0	MYO1H	12	109831174	Frame_Shift_Del	DEL	C	TCGA-TM-A7CF-01A-11D-A32B-08	57145952	109831174	24020721	31	36293											
RNF17	56163	broad.mit.edu	37	13	25399793	25399793	+	Missense_Mutation	SNP	A	A	G			TCGA-TM-A7CF-01A-11D-A32B-08	TCGA-TM-A7CF-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	979f7fd8-ab07-40a0-869a-d08fb8e598ff	c6066220-b6fd-47d0-8daf-6eceb9a01b57	g.chr13:25399793A>G	ENST00000255324.5	+	16	2180	c.2128A>G	c.(2128-2130)Atc>Gtc	p.I710V	RNF17_ENST00000381921.1_Missense_Mutation_p.I710V	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	710					multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		ATTAAAGACAATCGAGGAATT	0.333													21	49					0	0	1	0	0	G	25399793	A	G	25399793	3	3	461	1	0	0	0	0	1	0	0	0	13513	101	4	3	2190	3	RNF17	13	25399793	Missense_Mutation	SNP	A	TCGA-TM-A7CF-01A-11D-A32B-08		25399793	89770085	32	36294											
SMAD9	4093	broad.mit.edu	37	13	37439796	37439796	+	Missense_Mutation	SNP	C	C	T			TCGA-TM-A7CF-01A-11D-A32B-08	TCGA-TM-A7CF-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	979f7fd8-ab07-40a0-869a-d08fb8e598ff	c6066220-b6fd-47d0-8daf-6eceb9a01b57	g.chr13:37439796C>T	ENST00000379826.4	-	5	1223	c.881G>A	c.(880-882)cGa>cAa	p.R294Q	SMAD9_ENST00000399275.2_Missense_Mutation_p.R294Q|SMAD9_ENST00000350148.5_Missense_Mutation_p.R257Q	NM_001127217.2	NP_001120689.1	O15198	SMAD9_HUMAN	SMAD family member 9	294	MH2.				BMP signaling pathway|transforming growth factor beta receptor signaling pathway	cytosol|transcription factor complex	sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)	18		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)		all cancers(112;3.38e-07)|Epithelial(112;1.93e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00804)|BRCA - Breast invasive adenocarcinoma(63;0.0129)|GBM - Glioblastoma multiforme(144;0.026)		GAGCACACTTCGGGAGGAAGC	0.473													8	70					0	0	1	0	0	T	37439796	C	T	37439796	3	4	461	1	0	0	0	0	1	0	0	0	14818	884	31	1	534	1	SMAD9	13	37439796	Missense_Mutation	SNP	C	TCGA-TM-A7CF-01A-11D-A32B-08	12040003	37439796	77730082	33	36295											
AKAP13	11214	broad.mit.edu	37	15	86287010	86287010	+	Silent	SNP	G	G	A			TCGA-TM-A7CF-01A-11D-A32B-08	TCGA-TM-A7CF-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	979f7fd8-ab07-40a0-869a-d08fb8e598ff	c6066220-b6fd-47d0-8daf-6eceb9a01b57	g.chr15:86287010G>A	ENST00000394518.2	+	36	8441	c.8346G>A	c.(8344-8346)aaG>aaA	p.K2782K	AKAP13_ENST00000394510.2_Silent_p.K1027K|AKAP13_ENST00000560579.1_3'UTR|AKAP13_ENST00000361243.2_Silent_p.K2786K	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	2782	Interaction with ESR1.|Poly-Lys.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						CAAAGGAAAAGAAGGAGAAAA	0.542													6	61					0	0	1	0	0	A	86287010	G	A	86287010	2	1	461	1	0	0	0	0	0	0	0	1	446	933	33	2		2	AKAP13	15	86287010	Silent	SNP	G	TCGA-TM-A7CF-01A-11D-A32B-08		86287010	16244382	34	36296											
COQ9	57017	broad.mit.edu	37	16	57486804	57486804	+	Missense_Mutation	SNP	C	C	T			TCGA-TM-A7CF-01A-11D-A32B-08	TCGA-TM-A7CF-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	979f7fd8-ab07-40a0-869a-d08fb8e598ff	c6066220-b6fd-47d0-8daf-6eceb9a01b57	g.chr16:57486804C>T	ENST00000262507.6	+	3	403	c.334C>T	c.(334-336)Ccc>Tcc	p.P112S	COQ9_ENST00000567933.1_Missense_Mutation_p.P112S|COQ9_ENST00000567072.1_Missense_Mutation_p.P112S	NM_020312.3	NP_064708.1	O75208	COQ9_HUMAN	coenzyme Q9	112					ubiquinone biosynthetic process	mitochondrion		p.P112S(2)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)	16						TGAGTTTGTGCCCGCCCACGG	0.592													4	111					0	0	1	0	0	T	57486804	C	T	57486804	3	4	461	1	0	0	0	0	1	0	0	0	3774	739	26	2	344	2	COQ9	16	57486804	Missense_Mutation	SNP	C	TCGA-TM-A7CF-01A-11D-A32B-08		57486804	32867949	35	36297											
COTL1	23406	broad.mit.edu	37	16	84623755	84623755	+	Missense_Mutation	SNP	C	C	T			TCGA-TM-A7CF-01A-11D-A32B-08	TCGA-TM-A7CF-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	979f7fd8-ab07-40a0-869a-d08fb8e598ff	c6066220-b6fd-47d0-8daf-6eceb9a01b57	g.chr16:84623755C>T	ENST00000262428.4	-	3	436	c.274G>A	c.(274-276)Gcc>Acc	p.A92T	COTL1_ENST00000564057.1_Missense_Mutation_p.A23T	NM_021149.2	NP_066972.1	Q14019	COTL1_HUMAN	coactosin-like 1 (Dictyostelium)	92	ADF-H.					cytoplasm|cytoskeleton	actin binding|enzyme binding	p.A92T(1)		endometrium(1)|large_intestine(1)|liver(1)|lung(2)|skin(1)	6						CCGGTTTTGGCGCGCTGCAGC	0.597													4	60					0	0	1	0	0	T	84623755	C	T	84623755	3	4	461	1	0	0	0	0	1	0	0	0	3784	768	27	1	162	1	COTL1	16	84623755	Missense_Mutation	SNP	C	TCGA-TM-A7CF-01A-11D-A32B-08	27136951	84623755	5730998	36	36298											
ITGAE	3682	broad.mit.edu	37	17	3661079	3661079	+	Missense_Mutation	SNP	C	C	T			TCGA-TM-A7CF-01A-11D-A32B-08	TCGA-TM-A7CF-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	979f7fd8-ab07-40a0-869a-d08fb8e598ff	c6066220-b6fd-47d0-8daf-6eceb9a01b57	g.chr17:3661079C>T	ENST00000263087.4	-	9	1039	c.941G>A	c.(940-942)gGc>gAc	p.G314D		NM_002208.4	NP_002199.3	P38570	ITAE_HUMAN	integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide)	314	VWFA.				cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		CTCGAATATGCCACCATCGGT	0.547													5	286					0	0	1	0	0	T	3661079	C	T	3661079	3	4	461	1	0	0	0	0	1	0	0	0	7929	739	26	2	2690	2	ITGAE	17	3661079	Missense_Mutation	SNP	C	TCGA-TM-A7CF-01A-11D-A32B-08		3661079	77534131	37	36299											
TP53	7157	broad.mit.edu	37	17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	rs121913343		TCGA-TM-A7CF-01A-11D-A32B-08	TCGA-TM-A7CF-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	979f7fd8-ab07-40a0-869a-d08fb8e598ff	c6066220-b6fd-47d0-8daf-6eceb9a01b57	g.chr17:7577121G>A	ENST00000420246.2	-	8	949	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000269305.4_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000455263.2_Missense_Mutation_p.R273C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	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).		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.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			16	20					0	0	1	0	0	A	7577121	G	A	7577121	3	1	461	1	0	0	0	0	1	0	0	0	16442	1087	38	1	469	1	TP53	17	7577121	Missense_Mutation	SNP	G	TCGA-TM-A7CF-01A-11D-A32B-08	3916042	7577121	73618089	38	36300											
TP53	7157	broad.mit.edu	37	17	7578206	7578206	+	Missense_Mutation	SNP	T	T	C			TCGA-TM-A7CF-01A-11D-A32B-08	TCGA-TM-A7CF-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	979f7fd8-ab07-40a0-869a-d08fb8e598ff	c6066220-b6fd-47d0-8daf-6eceb9a01b57	g.chr17:7578206T>C	ENST00000420246.2	-	6	775	c.643A>G	c.(643-645)Agt>Ggt	p.S215G	TP53_ENST00000445888.2_Missense_Mutation_p.S215G|TP53_ENST00000574684.1_Intron|TP53_ENST00000269305.4_Missense_Mutation_p.S215G|TP53_ENST00000413465.2_Missense_Mutation_p.S215G|TP53_ENST00000359597.4_Missense_Mutation_p.S215G|TP53_ENST00000455263.2_Missense_Mutation_p.S215G	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	215	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		S -> C (in sporadic cancers; somatic mutation).|S -> G (in sporadic cancers; somatic mutation).|S -> I (in sporadic cancers; somatic mutation).|S -> K (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|S -> N (in sporadic cancers; somatic mutation).|S -> R (in sporadic cancers; somatic mutation).|S -> T (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.0?(8)|p.S215G(6)|p.?(5)|p.S215C(5)|p.H214fs*5(2)|p.S215R(2)|p.D208fs*1(1)|p.R213_S215>X(1)|p.S215fs*32(1)|p.R209fs*6(1)|p.T211fs*28(1)|p.S215fs*31(1)|p.D207_V216del10(1)|p.S215fs*27(1)|p.H214fs*7(1)|p.R213fs*32(1)|p.T211_S215delTFRHS(1)|p.H214_S215insX(1)|p.S215del(1)|p.S215fs*29(1)|p.D208_V216delDRNTFRHSV(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)		ACCACCACACTATGTCGAAAA	0.537		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)			18	36					0	0	1	0	0	C	7578206	T	C	7578206	3	2	461	1	0	0	0	0	1	0	0	0	16442	1522	53	3	651	3	TP53	17	7578206	Missense_Mutation	SNP	T	TCGA-TM-A7CF-01A-11D-A32B-08	1085	7578206	73617004	39	36301											
NEUROD2	4761	broad.mit.edu	37	17	37762632	37762632	+	Frame_Shift_Del	DEL	T	T	-			TCGA-TM-A7CF-01A-11D-A32B-08	TCGA-TM-A7CF-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	979f7fd8-ab07-40a0-869a-d08fb8e598ff	c6066220-b6fd-47d0-8daf-6eceb9a01b57	g.chr17:37762632delT	ENST00000302584.4	-	2	441	c.221delA	c.(220-222)aagfs	p.K74fs		NM_006160.3	NP_006151.3	Q15784	NDF2_HUMAN	neuronal differentiation 2	74					cellular response to calcium ion|cellular response to electrical stimulus|cerebellar cortex development|negative regulation of synapse maturation|positive regulation of calcium-mediated signaling|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of synapse maturation|positive regulation of synaptic plasticity|protein ubiquitination|regulation of transcription from RNA polymerase II promoter	nucleus	E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(4)	8	Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Lung(15;0.00549)|LUAD - Lung adenocarcinoma(14;0.0664)			gccttcctcctTGACCTCGGC	0.726													2	4	---	---	---	---						-	37762632	T	-	37762632	7	5	461	1	0	1	0	1	0	0	0	0	10396	1609	56	0	931	0	NEUROD2	17	37762632	Frame_Shift_Del	DEL	T	TCGA-TM-A7CF-01A-11D-A32B-08	30184426	37762632	43432578	40	36302											
NOL4	8715	broad.mit.edu	37	18	31709985	31709985	+	Splice_Site	SNP	C	C	T			TCGA-TM-A7CF-01A-11D-A32B-08	TCGA-TM-A7CF-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	979f7fd8-ab07-40a0-869a-d08fb8e598ff	c6066220-b6fd-47d0-8daf-6eceb9a01b57	g.chr18:31709985C>T	ENST00000261592.5	-	2	562		c.e2-1		NOL4_ENST00000535475.1_Splice_Site|NOL4_ENST00000589544.1_Splice_Site|NOL4_ENST00000538587.1_Splice_Site|NOL4_ENST00000269185.4_Splice_Site	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN	nucleolar protein 4							nucleolus	RNA binding			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						CTACGCCATCCTGGAAACAAA	0.343													4	39					0	0	1	0	0	T	31709985	C	T	31709985	5	4	461	1	0	0	0	0	0	0	1	0	10571	695	24	2	1692	2	NOL4	18	31709985	Splice_Site	SNP	C	TCGA-TM-A7CF-01A-11D-A32B-08		31709985	46367263	41	36303											
HIRA	7290	broad.mit.edu	37	22	19381985	19381985	+	Silent	SNP	C	C	A			TCGA-TM-A7CF-01A-11D-A32B-08	TCGA-TM-A7CF-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	979f7fd8-ab07-40a0-869a-d08fb8e598ff	c6066220-b6fd-47d0-8daf-6eceb9a01b57	g.chr22:19381985C>A	ENST00000263208.5	-	8	958	c.702G>T	c.(700-702)ggG>ggT	p.G234G	HIRA_ENST00000340170.4_Silent_p.G234G|HIRA_ENST00000541063.1_Silent_p.G190G|HIRA_ENST00000546308.1_Silent_p.G190G	NM_003325.3	NP_003316.3	P54198	HIRA_HUMAN	histone cell cycle regulator	234					chromatin modification|regulation of transcription from RNA polymerase II promoter	PML body	chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1)	37	Colorectal(54;0.0993)					CCAGGTAATGCCCATCAGGTG	0.547													7	59					0.0381472	0.039321	1	1	0	A	19381985	C	A	19381985	2	1	461	1	0	0	0	0	0	0	0	1	7161	726	26	5		5	HIRA	22	19381985	Silent	SNP	C	TCGA-TM-A7CF-01A-11D-A32B-08		19381985	31922581	42	36304											
ATP7A	538	broad.mit.edu	37	X	77301960	77301960	+	Missense_Mutation	SNP	T	T	C			TCGA-TM-A7CF-01A-11D-A32B-08	TCGA-TM-A7CF-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	979f7fd8-ab07-40a0-869a-d08fb8e598ff	c6066220-b6fd-47d0-8daf-6eceb9a01b57	g.chrX:77301960T>C	ENST00000341514.6	+	23	4551	c.4396T>C	c.(4396-4398)Tca>Cca	p.S1466P	ATP7A_ENST00000350425.4_Missense_Mutation_p.S469P|ATP7A_ENST00000343533.5_Missense_Mutation_p.S1388P	NM_000052.5	NP_000043.4	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	1466					ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53						CTCTATAAACTCACTACTGTC	0.443													23	271					0	0	1	0	0	C	77301960	T	C	77301960	3	2	461	1	0	0	0	0	1	0	0	0	1188	1551	54	3	4482	3	ATP7A	23	77301960	Missense_Mutation	SNP	T	TCGA-TM-A7CF-01A-11D-A32B-08		77301960	77968600	43	36305											
ARMCX2	9823	broad.mit.edu	37	X	100911610	100911612	+	In_Frame_Del	DEL	GCA	GCA	-			TCGA-TM-A7CF-01A-11D-A32B-08	TCGA-TM-A7CF-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	979f7fd8-ab07-40a0-869a-d08fb8e598ff	c6066220-b6fd-47d0-8daf-6eceb9a01b57	g.chrX:100911610_100911612delGCA	ENST00000328766.5	-	5	1416_1418	c.963_965delTGC	c.(961-966)gctgca>gca	p.321_322AA>A	ARMCX2_ENST00000330154.2_In_Frame_Del_p.321_322AA>A|ARMCX2_ENST00000356824.4_In_Frame_Del_p.321_322AA>A	NM_014782.5	NP_055597.1	Q7L311	ARMX2_HUMAN	armadillo repeat containing, X-linked 2	321						integral to membrane	binding	p.G316fs*3(1)		NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(6)|prostate(1)|skin(1)	29						AGCAGAGGCTGCAGCAGCTGCTG	0.586													10	135	---	---	---	---						-	100911612	GCA	-	100911610	7	5	461	1	0	1	0	1	0	0	0	0	959	1319	46	0	937	0	ARMCX2	23	100911610	In_Frame_Del	DEL	GCA	TCGA-TM-A7CF-01A-11D-A32B-08	23609650	100911610	54358950	44	36306											
RAP2C	57826	broad.mit.edu	37	X	131351120	131351120	+	Silent	SNP	T	T	C			TCGA-TM-A7CF-01A-11D-A32B-08	TCGA-TM-A7CF-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	979f7fd8-ab07-40a0-869a-d08fb8e598ff	c6066220-b6fd-47d0-8daf-6eceb9a01b57	g.chrX:131351120T>C	ENST00000342983.2	-	2	923	c.177A>G	c.(175-177)gcA>gcG	p.A59A	RAP2C_ENST00000370874.1_Silent_p.A59A|RAP2C_ENST00000460462.1_5'UTR	NM_001271187.1|NM_021183.4	NP_001258116.1|NP_067006.3	Q9Y3L5	RAP2C_HUMAN	RAP2C, member of RAS oncogene family	59					negative regulation of cell migration|positive regulation of protein autophosphorylation|Rap protein signal transduction|regulation of protein tyrosine kinase activity	recycling endosome membrane	GTP binding|GTPase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|ovary(1)|upper_aerodigestive_tract(2)	8	Acute lymphoblastic leukemia(192;0.000127)					GCTCAGTTCCTGCGGTGTCCA	0.458													6	136					0	0	1	0	0	C	131351120	T	C	131351120	2	2	461	1	0	0	0	0	0	0	0	1	13094	1567	55	3		3	RAP2C	23	131351120	Silent	SNP	T	TCGA-TM-A7CF-01A-11D-A32B-08	30439510	131351120	23919440	45	36307											
FLNA	2316	broad.mit.edu	37	X	153585626	153585626	+	Missense_Mutation	SNP	G	G	T			TCGA-TM-A7CF-01A-11D-A32B-08	TCGA-TM-A7CF-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	979f7fd8-ab07-40a0-869a-d08fb8e598ff	c6066220-b6fd-47d0-8daf-6eceb9a01b57	g.chrX:153585626G>T	ENST00000369850.3	-	30	5198	c.4962C>A	c.(4960-4962)caC>caA	p.H1654Q	FLNA_ENST00000422373.1_Intron|FLNA_ENST00000344736.4_Intron|FLNA_ENST00000369856.3_Intron|FLNA_ENST00000360319.4_Intron	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha	1654					actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TACCTAGCCCGTGACCTCCGA	0.637													27	39					1.55811e-20	1.68376e-20	1	1	0	T	153585626	G	T	153585626	3	4	461	1	0	0	0	0	1	0	0	0	5966	1136	40	5	3057	5	FLNA	23	153585626	Missense_Mutation	SNP	G	TCGA-TM-A7CF-01A-11D-A32B-08	22234506	153585626	1684934	46	36308											
ZC3H11A	9877	broad.mit.edu	37	1	203786224	203786225	+	Frame_Shift_Ins	INS	-	-	T			TCGA-TM-A84B-01A-11D-A36O-08	TCGA-TM-A84B-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c782dd9-677c-4812-b310-acbef4325053	15750dd9-70fb-49e2-b349-b02ba6447d41	g.chr1:203786224_203786225insT	ENST00000545588.1	+	2	3853_3854	c.26_27insT	c.(25-30)tattttfs	p.YF9fs	ZC3H11A_ENST00000367210.1_Frame_Shift_Ins_p.YF9fs|ZC3H11A_ENST00000367212.3_Frame_Shift_Ins_p.YF9fs|ZC3H11A_ENST00000332127.4_Frame_Shift_Ins_p.YF9fs|ZC3H11A_ENST00000367214.1_Frame_Shift_Ins_p.YF9fs	NM_001271675.1	NP_001258604.1	O75152	ZC11A_HUMAN	zinc finger CCCH-type containing 11A	9							nucleic acid binding|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32	all_cancers(21;0.0904)|all_epithelial(62;0.234)		BRCA - Breast invasive adenocarcinoma(75;0.109)			GAAGACTGCTATTTTTTTTTCT	0.371													8	244	---	---	---	---						T	203786225	-	T	203786224	7	5	462	1	0	1	1	0	0	0	0	0	17619	449	16	0	28	0	ZC3H11A	1	203786224	Frame_Shift_Ins	INS	-	TCGA-TM-A84B-01A-11D-A36O-08		203786224	45464397	1	36309											
OBSCN	84033	broad.mit.edu	37	1	228564858	228564858	+	Silent	SNP	C	C	T			TCGA-TM-A84B-01A-11D-A36O-08	TCGA-TM-A84B-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c782dd9-677c-4812-b310-acbef4325053	15750dd9-70fb-49e2-b349-b02ba6447d41	g.chr1:228564858C>T	ENST00000570156.2	+	112	26090	c.26016C>T	c.(26014-26016)cgC>cgT	p.R8672R	OBSCN_ENST00000422127.1_Silent_p.R7715R|OBSCN_ENST00000366707.4_Silent_p.R5349R	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	7715					apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CAGTGCTGCGCGAATACGAGG	0.677													6	10					0	0	1	0	0	T	228564858	C	T	228564858	2	4	462	1	0	0	0	0	0	0	0	1	10860	755	27	1		1	OBSCN	1	228564858	Silent	SNP	C	TCGA-TM-A84B-01A-11D-A36O-08	24778634	228564858	20685763	2	36310											
TBCE	6905	broad.mit.edu	37	1	235543460	235543460	+	Silent	SNP	G	G	C			TCGA-TM-A84B-01A-11D-A36O-08	TCGA-TM-A84B-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c782dd9-677c-4812-b310-acbef4325053	15750dd9-70fb-49e2-b349-b02ba6447d41	g.chr1:235543460G>C	ENST00000543662.1	+	2	202	c.96G>C	c.(94-96)gtG>gtC	p.V32V	TBCE_ENST00000366601.3_Silent_p.V32V|TBCE_ENST00000472011.1_3'UTR|TBCE_ENST00000406207.1_Silent_p.V32V			Q15813	TBCE_HUMAN	tubulin folding cofactor E	32	CAP-Gly.				'de novo' posttranslational protein folding|post-chaperonin tubulin folding pathway	cytoplasm|microtubule|nucleus|plasma membrane	chaperone binding			NS(1)|endometrium(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	14	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00192)|Prostate(94;0.0294)|all_epithelial(177;0.155)|Lung SC(1967;0.238)	OV - Ovarian serous cystadenocarcinoma(106;2.56e-05)			TCCCTCCCGTGGCAGGTAAGC	0.443													17	28					0	0	1	0	0	C	235543460	G	C	235543460	2	2	462	1	0	0	0	0	0	0	0	1	15694	1335	47	5		5	TBCE	1	235543460	Silent	SNP	G	TCGA-TM-A84B-01A-11D-A36O-08	6978602	235543460	13707161	3	36311											
PXDN	7837	broad.mit.edu	37	2	1653369	1653369	+	Missense_Mutation	SNP	C	C	T			TCGA-TM-A84B-01A-11D-A36O-08	TCGA-TM-A84B-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c782dd9-677c-4812-b310-acbef4325053	15750dd9-70fb-49e2-b349-b02ba6447d41	g.chr2:1653369C>T	ENST00000252804.4	-	17	2233	c.2183G>A	c.(2182-2184)cGc>cAc	p.R728H		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	728					extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity	p.R728H(1)		breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		GTTGTTCACGCGCCGGTGGGC	0.602													29	32					0	0	1	0	0	T	1653369	C	T	1653369	3	4	462	1	0	0	0	0	1	0	0	0	12899	768	27	1	2284	1	PXDN	2	1653369	Missense_Mutation	SNP	C	TCGA-TM-A84B-01A-11D-A36O-08		1653369	241546004	4	36312											
ETAA1	54465	broad.mit.edu	37	2	67631743	67631743	+	Silent	SNP	C	C	T			TCGA-TM-A84B-01A-11D-A36O-08	TCGA-TM-A84B-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c782dd9-677c-4812-b310-acbef4325053	15750dd9-70fb-49e2-b349-b02ba6447d41	g.chr2:67631743C>T	ENST00000272342.5	+	5	2059	c.1929C>T	c.(1927-1929)tcC>tcT	p.S643S	ETAA1_ENST00000462772.1_Intron	NM_019002.3	NP_061875.2	Q9NY74	ETAA1_HUMAN	Ewing tumor-associated antigen 1	643						cytoplasm|nucleus				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	33						ATAATAATTCCGAACATGGAG	0.358													68	99					0	0	1	0	0	T	67631743	C	T	67631743	2	4	462	1	0	0	0	0	0	0	0	1	5295	639	23	1		1	ETAA1	2	67631743	Silent	SNP	C	TCGA-TM-A84B-01A-11D-A36O-08	65978374	67631743	175567630	5	36313											
SCN9A	6335	broad.mit.edu	37	2	167055493	167055493	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A84B-01A-11D-A36O-08	TCGA-TM-A84B-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c782dd9-677c-4812-b310-acbef4325053	15750dd9-70fb-49e2-b349-b02ba6447d41	g.chr2:167055493G>A	ENST00000303354.6	-	27	5999	c.5659C>T	c.(5659-5661)Cgg>Tgg	p.R1887W	AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000375387.4_Missense_Mutation_p.R1887W|SCN9A_ENST00000409672.1_Missense_Mutation_p.R1875W|SCN9A_ENST00000409435.1_Missense_Mutation_p.R1886W			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	1886						voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.R1875W(1)		NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	TCTTGTTTCCGTTTTAGTGTG	0.403													48	78					0	0	1	0	0	A	167055493	G	A	167055493	3	1	462	1	0	0	0	0	1	0	0	0	13979	1144	40	1	314	1	SCN9A	2	167055493	Missense_Mutation	SNP	G	TCGA-TM-A84B-01A-11D-A36O-08	99423750	167055493	76143880	6	36314											
TTN	7273	broad.mit.edu	37	2	179485844	179485844	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A84B-01A-11D-A36O-08	TCGA-TM-A84B-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c782dd9-677c-4812-b310-acbef4325053	15750dd9-70fb-49e2-b349-b02ba6447d41	g.chr2:179485844G>A	ENST00000589042.1	-	246	45825	c.45601C>T	c.(45601-45603)Cac>Tac	p.H15201Y	TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.H6328Y|TTN_ENST00000591111.1_Missense_Mutation_p.H13560Y|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.H12633Y|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.H6261Y|TTN_ENST00000460472.2_Missense_Mutation_p.H6136Y|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	13560	Fibronectin type-III 10.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACTGTCAAGTGAGCTGCTGCT	0.383													18	16					0	0	1	0	0	A	179485844	G	A	179485844	3	1	462	1	0	0	0	0	1	0	0	0	16797	1290	45	2	62560	2	TTN	2	179485844	Missense_Mutation	SNP	G	TCGA-TM-A84B-01A-11D-A36O-08	12430351	179485844	63713529	7	36315											
STAT1	6772	broad.mit.edu	37	2	191865866	191865866	+	Silent	SNP	G	G	A			TCGA-TM-A84B-01A-11D-A36O-08	TCGA-TM-A84B-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c782dd9-677c-4812-b310-acbef4325053	15750dd9-70fb-49e2-b349-b02ba6447d41	g.chr2:191865866G>A	ENST00000361099.3	-	6	783	c.396C>T	c.(394-396)agC>agT	p.S132S	STAT1_ENST00000540176.1_Silent_p.S132S|STAT1_ENST00000409465.1_Silent_p.S132S|STAT1_ENST00000392323.2_Silent_p.S134S|STAT1_ENST00000392322.3_Silent_p.S132S	NM_007315.3	NP_009330.1	P42224	STAT1_HUMAN	signal transducer and activator of transcription 1, 91kDa	132					activation of caspase activity|I-kappaB kinase/NF-kappaB cascade|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway|tyrosine phosphorylation of STAT protein	cytosol|nucleolus|nucleoplasm	calcium ion binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity|signal transducer activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)		Fludarabine(DB01073)	ACATCACTGTGCTCTGAATAT	0.413													25	34					0	0	1	0	0	A	191865866	G	A	191865866	2	1	462	1	0	0	0	0	0	0	0	1	15320	1310	46	2		2	STAT1	2	191865866	Silent	SNP	G	TCGA-TM-A84B-01A-11D-A36O-08	12380022	191865866	51333507	8	36316											
FAM126B	285172	broad.mit.edu	37	2	201846441	201846441	+	Missense_Mutation	SNP	C	C	T	rs138872845		TCGA-TM-A84B-01A-11D-A36O-08	TCGA-TM-A84B-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c782dd9-677c-4812-b310-acbef4325053	15750dd9-70fb-49e2-b349-b02ba6447d41	g.chr2:201846441C>T	ENST00000418596.3	-	12	1332	c.1145G>A	c.(1144-1146)cGt>cAt	p.R382H	AC005037.3_ENST00000413848.1_RNA	NM_173822.3	NP_776183.1	Q8IXS8	F126B_HUMAN	family with sequence similarity 126, member B							intracellular				endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16						CTTGGCTGAACGCCCAGTTGC	0.493													22	31					0	0	1	0	0	T	201846441	C	T	201846441	3	4	462	1	0	0	0	0	1	0	0	0	5461	536	19	1	451	1	FAM126B	2	201846441	Missense_Mutation	SNP	C	TCGA-TM-A84B-01A-11D-A36O-08	9980575	201846441	41352932	9	36317											
SNED1	25992	broad.mit.edu	37	2	242002232	242002232	+	Missense_Mutation	SNP	C	C	T			TCGA-TM-A84B-01A-11D-A36O-08	TCGA-TM-A84B-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c782dd9-677c-4812-b310-acbef4325053	15750dd9-70fb-49e2-b349-b02ba6447d41	g.chr2:242002232C>T	ENST00000310397.8	+	17	2282	c.2282C>T	c.(2281-2283)cCg>cTg	p.P761L	SNED1_ENST00000342631.6_Missense_Mutation_p.P761L|SNED1_ENST00000401884.1_Missense_Mutation_p.P761L|SNED1_ENST00000405547.3_Missense_Mutation_p.P761L|AC005237.4_ENST00000458377.1_RNA	NM_001080437.1	NP_001073906.1	Q8TER0	SNED1_HUMAN	sushi, nidogen and EGF-like domains 1	761	EGF-like 11; calcium-binding (Potential).				cell-matrix adhesion	extracellular region	calcium ion binding			NS(1)|breast(1)|central_nervous_system(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	24		all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109)		CGGTCTCAGCCGTGCCTGCAT	0.557													3	11					0	0	1	0	0	T	242002232	C	T	242002232	3	4	462	1	0	0	0	0	1	0	0	0	14899	652	23	1	2348	1	SNED1	2	242002232	Missense_Mutation	SNP	C	TCGA-TM-A84B-01A-11D-A36O-08	40155791	242002232	1197141	10	36318											
UGT2A1	10941	broad.mit.edu	37	4	70465099	70465099	+	Silent	SNP	C	C	T	rs141938191		TCGA-TM-A84B-01A-11D-A36O-08	TCGA-TM-A84B-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c782dd9-677c-4812-b310-acbef4325053	15750dd9-70fb-49e2-b349-b02ba6447d41	g.chr4:70465099C>T	ENST00000503640.1	-	2	784	c.729G>A	c.(727-729)acG>acA	p.T243T	UGT2A1_ENST00000514019.1_Silent_p.T453T|UGT2A1_ENST00000286604.4_Silent_p.T287T|UGT2A2_ENST00000457664.2_Silent_p.T252T|UGT2A1_ENST00000502343.1_5'UTR|UGT2A1_ENST00000512704.1_Silent_p.T243T	NM_006798.3	NP_006789.2	Q9Y4X1	UD2A1_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus	243					detection of chemical stimulus|sensory perception of smell	integral to membrane	glucuronosyltransferase activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						TCTCACATAACGTAGTGGGTC	0.368													27	37					0	0	1	0	0	T	70465099	C	T	70465099	2	4	462	1	0	0	0	0	0	0	0	1	17013	523	19	1		1	UGT2A1	4	70465099	Silent	SNP	C	TCGA-TM-A84B-01A-11D-A36O-08		70465099	120689177	11	36319											
SLC25A4	291	broad.mit.edu	37	4	186066341	186066341	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A84B-01A-11D-A36O-08	TCGA-TM-A84B-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c782dd9-677c-4812-b310-acbef4325053	15750dd9-70fb-49e2-b349-b02ba6447d41	g.chr4:186066341G>A	ENST00000281456.6	+	2	667	c.535G>A	c.(535-537)Gtc>Atc	p.V179I		NM_001151.3	NP_001142.2	P12235	ADT1_HUMAN	solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4						energy reserve metabolic process|interspecies interaction between organisms|mitochondrial genome maintenance|negative regulation of necrotic cell death|regulation of insulin secretion|viral reproduction	integral to plasma membrane|mitochondrial inner membrane	adenine transmembrane transporter activity|protein binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)	10		all_lung(41;1.19e-13)|Lung NSC(41;3.16e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00872)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;4.48e-44)|Epithelial(43;2.1e-41)|all cancers(43;1.37e-36)|Colorectal(24;4.79e-05)|BRCA - Breast invasive adenocarcinoma(30;7.72e-05)|GBM - Glioblastoma multiforme(59;0.000274)|COAD - Colon adenocarcinoma(29;0.000362)|STAD - Stomach adenocarcinoma(60;0.000756)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)	Adenosine triphosphate(DB00171)|Clodronate(DB00720)	GGGTTTCAACGTCTCTGTCCA	0.562													12	15					0	0	1	0	0	A	186066341	G	A	186066341	3	1	462	1	0	0	0	0	1	0	0	0	14559	1145	40	1	541	1	SLC25A4	4	186066341	Missense_Mutation	SNP	G	TCGA-TM-A84B-01A-11D-A36O-08	115601242	186066341	5087935	12	36320											
PCDHA3	56145	broad.mit.edu	37	5	140182557	140182557	+	Missense_Mutation	SNP	C	C	T			TCGA-TM-A84B-01A-11D-A36O-08	TCGA-TM-A84B-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c782dd9-677c-4812-b310-acbef4325053	15750dd9-70fb-49e2-b349-b02ba6447d41	g.chr5:140182557C>T	ENST00000522353.2	+	1	1775	c.1775C>T	c.(1774-1776)gCg>gTg	p.A592V	PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000520672.2_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.A592V	NM_018906.2	NP_061729.1														NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACGTGGTAGCGAAGGTGCGC	0.682													42	42					0	0	1	0	0	T	140182557	C	T	140182557	3	4	462	1	0	0	0	0	1	0	0	0	11572	768	27	1	1777	1	PCDHA3	5	140182557	Missense_Mutation	SNP	C	TCGA-TM-A84B-01A-11D-A36O-08		140182557	40732703	13	36321											
UNCX	340260	broad.mit.edu	37	7	1275471	1275471	+	Missense_Mutation	SNP	T	T	C			TCGA-TM-A84B-01A-11D-A36O-08	TCGA-TM-A84B-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c782dd9-677c-4812-b310-acbef4325053	15750dd9-70fb-49e2-b349-b02ba6447d41	g.chr7:1275471T>C	ENST00000316333.8	+	3	565	c.454T>C	c.(454-456)Tgg>Cgg	p.W152R		NM_001080461.1	NP_001073930.1	A6NJT0	UNC4_HUMAN	UNC homeobox	152					cell differentiation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			lung(2)|skin(1)|upper_aerodigestive_tract(1)	4		Ovarian(82;0.11)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.74e-15)		GCTCTAGGTCTGGTTCCAAAA	0.697													8	14					0	0	1	0	0	C	1275471	T	C	1275471	3	2	462	1	0	0	0	0	1	0	0	0	17058	1580	55	3	464	3	UNCX	7	1275471	Missense_Mutation	SNP	T	TCGA-TM-A84B-01A-11D-A36O-08		1275471	157863192	14	36322											
AHR	196	broad.mit.edu	37	7	17379426	17379426	+	Silent	SNP	C	C	T	rs139422560	byFrequency	TCGA-TM-A84B-01A-11D-A36O-08	TCGA-TM-A84B-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c782dd9-677c-4812-b310-acbef4325053	15750dd9-70fb-49e2-b349-b02ba6447d41	g.chr7:17379426C>T	ENST00000242057.4	+	10	2620	c.1977C>T	c.(1975-1977)ttC>ttT	p.F659F		NM_001621.4	NP_001612.1	P35869	AHR_HUMAN	aryl hydrocarbon receptor	659					apoptosis|blood vessel development|cell cycle|regulation of B cell proliferation|response to stress|transcription from RNA polymerase II promoter|xenobiotic metabolic process	cytosolic aryl hydrocarbon receptor complex|transcription factor complex	Hsp90 protein binding|ligand-dependent nuclear receptor activity|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|urinary_tract(3)	33	Lung NSC(10;0.0392)|all_lung(11;0.0754)					CTAACCAATTCGTGCCTTTCA	0.408													45	102					0	0	1	0	0	T	17379426	C	T	17379426	2	4	462	1	0	0	0	0	0	0	0	1	413	883	31	1		1	AHR	7	17379426	Silent	SNP	C	TCGA-TM-A84B-01A-11D-A36O-08	16103955	17379426	141759237	15	36323											
HECW1	23072	broad.mit.edu	37	7	43477672	43477672	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A84B-01A-11D-A36O-08	TCGA-TM-A84B-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c782dd9-677c-4812-b310-acbef4325053	15750dd9-70fb-49e2-b349-b02ba6447d41	g.chr7:43477672G>A	ENST00000395891.2	+	9	1477	c.872G>A	c.(871-873)cGc>cAc	p.R291H	HECW1_ENST00000453890.1_Missense_Mutation_p.R291H|HECW1_ENST00000471043.1_3'UTR	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1		C2.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						GCCAAGAGCCGCCCCATCATC	0.473													33	72					0	0	1	0	0	A	43477672	G	A	43477672	3	1	462	1	0	0	0	0	1	0	0	0	7083	1087	38	1	898	1	HECW1	7	43477672	Missense_Mutation	SNP	G	TCGA-TM-A84B-01A-11D-A36O-08	26098246	43477672	115660991	16	36324											
SRRM3	222183	broad.mit.edu	37	7	75894112	75894112	+	Missense_Mutation	SNP	A	A	T			TCGA-TM-A84B-01A-11D-A36O-08	TCGA-TM-A84B-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c782dd9-677c-4812-b310-acbef4325053	15750dd9-70fb-49e2-b349-b02ba6447d41	g.chr7:75894112A>T	ENST00000388802.4	+	9	913	c.704A>T	c.(703-705)gAg>gTg	p.E235V	SRRM3_ENST00000326382.8_Missense_Mutation_p.E235V					serine/arginine repetitive matrix 3											NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|pancreas(1)	8						AAAAGAAAAGAGAAGAACAAA	0.567													13	21					0	0	1	0	0	T	75894112	A	T	75894112	3	4	462	1	0	0	0	0	1	0	0	0	15226	304	11	5	734	5	SRRM3	7	75894112	Missense_Mutation	SNP	A	TCGA-TM-A84B-01A-11D-A36O-08	32416440	75894112	83244551	17	36325											
ASB10	136371	broad.mit.edu	37	7	150883516	150883516	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A84B-01A-11D-A36O-08	TCGA-TM-A84B-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c782dd9-677c-4812-b310-acbef4325053	15750dd9-70fb-49e2-b349-b02ba6447d41	g.chr7:150883516G>A	ENST00000422024.1	-	2	807	c.682C>T	c.(682-684)Cgc>Tgc	p.R228C	ASB10_ENST00000420175.2_Missense_Mutation_p.R183C|ASB10_ENST00000434669.1_Missense_Mutation_p.R228C|ASB10_ENST00000377867.3_Missense_Mutation_p.R168C|ASB10_ENST00000275838.1_Missense_Mutation_p.R183C	NM_001142459.1	NP_001135931.2	Q8WXI3	ASB10_HUMAN	ankyrin repeat and SOCS box containing 10	183					intracellular signal transduction					NS(1)|endometrium(2)|lung(7)|skin(2)	12			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TGCAGGGGGCGTTTCCCATCC	0.642													4	5					0	0	1	0	0	A	150883516	G	A	150883516	3	1	462	1	0	0	0	0	1	0	0	0	1013	1145	40	1	872	1	ASB10	7	150883516	Missense_Mutation	SNP	G	TCGA-TM-A84B-01A-11D-A36O-08	74989404	150883516	8255147	18	36326											
GPR124	25960	broad.mit.edu	37	8	37693223	37693223	+	Missense_Mutation	SNP	G	G	A	rs142661492	by1000genomes	TCGA-TM-A84B-01A-11D-A36O-08	TCGA-TM-A84B-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c782dd9-677c-4812-b310-acbef4325053	15750dd9-70fb-49e2-b349-b02ba6447d41	g.chr8:37693223G>A	ENST00000412232.2	+	13	1998	c.1985G>A	c.(1984-1986)cGc>cAc	p.R662H	GPR124_ENST00000315215.7_Intron	NM_032777.9	NP_116166.9	Q96PE1	GP124_HUMAN	G protein-coupled receptor 124	662					central nervous system development|endothelial cell migration|neuropeptide signaling pathway|regulation of angiogenesis|regulation of chemotaxis|sprouting angiogenesis	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37			BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			AACACCTCCCGCCCTGGAGCT	0.682													25	44					0	0	1	0	0	A	37693223	G	A	37693223	3	1	462	1	0	0	0	0	1	0	0	0	6678	1087	38	1	2014	1	GPR124	8	37693223	Missense_Mutation	SNP	G	TCGA-TM-A84B-01A-11D-A36O-08		37693223	108670799	19	36327											
PCMTD1	115294	broad.mit.edu	37	8	52733212	52733212	+	Missense_Mutation	SNP	A	A	G			TCGA-TM-A84B-01A-11D-A36O-08	TCGA-TM-A84B-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c782dd9-677c-4812-b310-acbef4325053	15750dd9-70fb-49e2-b349-b02ba6447d41	g.chr8:52733212A>G	ENST00000360540.5	-	7	1179	c.773T>C	c.(772-774)tTc>tCc	p.F258S	PCMTD1_ENST00000519559.1_5'UTR|PCMTD1_ENST00000544451.1_Missense_Mutation_p.F182S|PCMTD1_ENST00000522514.1_Missense_Mutation_p.F258S	NM_052937.2	NP_443169.2	Q96MG8	PCMD1_HUMAN	protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1	258						cytoplasm	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity			NS(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(17)|prostate(2)|skin(8)|soft_tissue(1)	37		Lung NSC(129;0.0795)|all_lung(136;0.144)				ATCATTTATGAAATTTCTAAG	0.393													5	96					0	0	1	0	0	G	52733212	A	G	52733212	3	3	462	1	0	0	0	0	1	0	0	0	11633	246	9	3	304	3	PCMTD1	8	52733212	Missense_Mutation	SNP	A	TCGA-TM-A84B-01A-11D-A36O-08	15039989	52733212	93630810	20	36328											
MPDZ	8777	broad.mit.edu	37	9	13108990	13108990	+	Missense_Mutation	SNP	C	C	A			TCGA-TM-A84B-01A-11D-A36O-08	TCGA-TM-A84B-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c782dd9-677c-4812-b310-acbef4325053	15750dd9-70fb-49e2-b349-b02ba6447d41	g.chr9:13108990C>A	ENST00000319217.7	-	46	6258	c.6011G>T	c.(6010-6012)gGa>gTa	p.G2004V	MPDZ_ENST00000538841.1_Missense_Mutation_p.G863V|MPDZ_ENST00000541093.1_Missense_Mutation_p.G238V|MPDZ_ENST00000541718.1_Missense_Mutation_p.G1975V|MPDZ_ENST00000536827.1_Missense_Mutation_p.G1942V|MPDZ_ENST00000546205.1_Missense_Mutation_p.G2018V|MPDZ_ENST00000447879.1_Missense_Mutation_p.G1971V|MPDZ_ENST00000381015.4_Missense_Mutation_p.G2004V|MPDZ_ENST00000381022.2_Missense_Mutation_p.G1975V	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	2004	PDZ 13.				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		GCTGCCATATCCTCCAACTAT	0.413													7	6					8.12818e-05	8.12818e-05	1	1	0	A	13108990	C	A	13108990	3	1	462	1	0	0	0	0	1	0	0	0	9771	855	30	5	209	5	MPDZ	9	13108990	Missense_Mutation	SNP	C	TCGA-TM-A84B-01A-11D-A36O-08		13108990	128104441	21	36329											
NDOR1	27158	broad.mit.edu	37	9	140110110	140110110	+	Splice_Site	SNP	G	G	A			TCGA-TM-A84B-01A-11D-A36O-08	TCGA-TM-A84B-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c782dd9-677c-4812-b310-acbef4325053	15750dd9-70fb-49e2-b349-b02ba6447d41	g.chr9:140110110G>A	ENST00000371521.4	+	11	1371		c.e11-1		NDOR1_ENST00000458322.2_Splice_Site|NDOR1_ENST00000427047.2_Splice_Site|NDOR1_ENST00000344894.5_Splice_Site	NM_001144026.1	NP_001137498.1	Q9UHB4	NDOR1_HUMAN	NADPH dependent diflavin oxidoreductase 1						cell death	cytosol|intermediate filament cytoskeleton|nucleus|perinuclear region of cytoplasm	flavin adenine dinucleotide binding|FMN binding|iron ion binding|NADP binding|oxidoreductase activity|protein binding			breast(1)|endometrium(5)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		TCCTGCAATAGGACCTGTCCG	0.607													20	15					0	0	1	0	0	A	140110110	G	A	140110110	5	1	462	1	0	0	0	0	0	0	1	0	10296	1014	35	2	1330	2	NDOR1	9	140110110	Splice_Site	SNP	G	TCGA-TM-A84B-01A-11D-A36O-08	127001120	140110110	1103321	22	36330											
BMS1	9790	broad.mit.edu	37	10	43292066	43292066	+	Silent	SNP	C	C	T			TCGA-TM-A84B-01A-11D-A36O-08	TCGA-TM-A84B-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c782dd9-677c-4812-b310-acbef4325053	15750dd9-70fb-49e2-b349-b02ba6447d41	g.chr10:43292066C>T	ENST00000374518.5	+	10	1437	c.1374C>T	c.(1372-1374)aaC>aaT	p.N458N		NM_014753.3	NP_055568.3	Q14692	BMS1_HUMAN	BMS1 ribosome biogenesis factor						ribosome assembly	nucleolus	ATP binding|GTP binding|GTPase activity			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						GGTTGGAAAACGGCTCTAGTG	0.443													16	8					0	0	1	0	0	T	43292066	C	T	43292066	2	4	462	1	0	0	0	0	0	0	0	1	1471	535	19	1		1	BMS1	10	43292066	Silent	SNP	C	TCGA-TM-A84B-01A-11D-A36O-08		43292066	92242681	23	36331											
HKDC1	80201	broad.mit.edu	37	10	70986987	70986987	+	Missense_Mutation	SNP	C	C	T			TCGA-TM-A84B-01A-11D-A36O-08	TCGA-TM-A84B-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c782dd9-677c-4812-b310-acbef4325053	15750dd9-70fb-49e2-b349-b02ba6447d41	g.chr10:70986987C>T	ENST00000354624.5	+	2	221	c.88C>T	c.(88-90)Cgg>Tgg	p.R30W	HKDC1_ENST00000395086.2_Missense_Mutation_p.R30W|RP11-227H15.4_ENST00000450995.1_RNA	NM_025130.3	NP_079406	Q2TB90	HKDC1_HUMAN	hexokinase domain containing 1	30					glycolysis	mitochondrion|nucleus	ATP binding|hexokinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						GTATCACATGCGGCTCTCCGA	0.612													4	35					0	0	1	0	0	T	70986987	C	T	70986987	3	4	462	1	0	0	0	0	1	0	0	0	7234	759	27	1	94	1	HKDC1	10	70986987	Missense_Mutation	SNP	C	TCGA-TM-A84B-01A-11D-A36O-08	27694921	70986987	64547760	24	36332											
PTEN	5728	broad.mit.edu	37	10	89712016	89712019	+	Splice_Site	DEL	AGTA	AGTA	-			TCGA-TM-A84B-01A-11D-A36O-08	TCGA-TM-A84B-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c782dd9-677c-4812-b310-acbef4325053	15750dd9-70fb-49e2-b349-b02ba6447d41	g.chr10:89712016_89712019delAGTA	ENST00000371953.3	+	6	1991	c.634delAGTA	c.(634-636)agt>gt	p.S212fs	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	212	C2 tensin-type.				activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.?(11)|p.R55fs*1(5)|p.G165fs*9(3)|p.Y27fs*1(2)|p.G165_*404del(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		CGGAACTTGCAGTAAGTGCTTGAA	0.338		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			55	15	---	---	---	---						-	89712019	AGTA	-	89712016	8	5	462	1	0	1	0	1	0	0	1	0	12787	202	7	0	656	0	PTEN	10	89712016	Splice_Site	DEL	AGTA	TCGA-TM-A84B-01A-11D-A36O-08	18725029	89712016	45822731	25	36333											
RAPSN	5913	broad.mit.edu	37	11	47469622	47469622	+	Silent	SNP	G	G	A			TCGA-TM-A84B-01A-11D-A36O-08	TCGA-TM-A84B-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c782dd9-677c-4812-b310-acbef4325053	15750dd9-70fb-49e2-b349-b02ba6447d41	g.chr11:47469622G>A	ENST00000298854.2	-	2	486	c.273C>T	c.(271-273)cgC>cgT	p.R91R	RAPSN_ENST00000352508.3_Silent_p.R91R|RAPSN_ENST00000524487.1_Silent_p.R91R|RAPSN_ENST00000529341.1_Silent_p.R91R	NM_005055.4	NP_005046.2	Q13702	RAPSN_HUMAN	receptor-associated protein of the synapse	91					synaptic transmission, cholinergic	cell junction|cytoskeleton|postsynaptic membrane	acetylcholine receptor binding|zinc ion binding			endometrium(1)|large_intestine(3)|lung(6)|ovary(2)	12						TCTCGTTGCTGCGTGCCAGGT	0.632													9	23					0	0	1	0	0	A	47469622	G	A	47469622	2	1	462	1	0	0	0	0	0	0	0	1	13103	1306	46	2		2	RAPSN	11	47469622	Silent	SNP	G	TCGA-TM-A84B-01A-11D-A36O-08		47469622	87536894	26	36334											
PPFIA2	8499	broad.mit.edu	37	12	81746923	81746923	+	Silent	SNP	A	A	G			TCGA-TM-A84B-01A-11D-A36O-08	TCGA-TM-A84B-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c782dd9-677c-4812-b310-acbef4325053	15750dd9-70fb-49e2-b349-b02ba6447d41	g.chr12:81746923A>G	ENST00000550584.2	-	16	2264	c.1969T>C	c.(1969-1971)Ttg>Ctg	p.L657L	PPFIA2_ENST00000443686.3_Silent_p.L558L|PPFIA2_ENST00000552948.1_Silent_p.L657L|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000541017.1_5'UTR|PPFIA2_ENST00000548586.1_Silent_p.L657L|PPFIA2_ENST00000407050.4_Silent_p.L583L|PPFIA2_ENST00000541570.2_Silent_p.L224L|PPFIA2_ENST00000550359.2_Silent_p.L504L|PPFIA2_ENST00000549325.1_Silent_p.L639L|PPFIA2_ENST00000333447.7_Silent_p.L639L|PPFIA2_ENST00000549396.1_Silent_p.L657L	NM_001220473.1	NP_001207402.1	B7Z663	B7Z663_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	583										NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						ATGGCATCCAATTGTTCCTGA	0.368													19	28					0	0	1	0	0	G	81746923	A	G	81746923	2	3	462	1	0	0	0	0	0	0	0	1	12355	98	4	3		3	PPFIA2	12	81746923	Silent	SNP	A	TCGA-TM-A84B-01A-11D-A36O-08		81746923	52104972	27	36335											
C14orf39	317761	broad.mit.edu	37	14	60908817	60908817	+	Silent	SNP	A	A	G			TCGA-TM-A84B-01A-11D-A36O-08	TCGA-TM-A84B-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c782dd9-677c-4812-b310-acbef4325053	15750dd9-70fb-49e2-b349-b02ba6447d41	g.chr14:60908817A>G	ENST00000321731.3	-	17	1695	c.1536T>C	c.(1534-1536)aaT>aaC	p.N512N		NM_174978.2	NP_777638	Q08AQ4	Q08AQ4_HUMAN	chromosome 14 open reading frame 39	512										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(108;0.0448)		ATGACAGAGGATTTAGATTTC	0.274													34	43					0	0	1	0	0	G	60908817	A	G	60908817	2	3	462	1	0	0	0	0	0	0	0	1	1778	330	12	3		3	C14orf39	14	60908817	Silent	SNP	A	TCGA-TM-A84B-01A-11D-A36O-08		60908817	46440723	28	36336											
SLC27A2	11001	broad.mit.edu	37	15	50497454	50497454	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A84B-01A-11D-A36O-08	TCGA-TM-A84B-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c782dd9-677c-4812-b310-acbef4325053	15750dd9-70fb-49e2-b349-b02ba6447d41	g.chr15:50497454G>A	ENST00000267842.5	+	4	1098	c.866G>A	c.(865-867)cGg>cAg	p.R289Q	SLC27A2_ENST00000380902.4_Missense_Mutation_p.R236Q|SLC27A2_ENST00000544960.1_Missense_Mutation_p.R54Q	NM_003645.3	NP_003636.2	O14975	S27A2_HUMAN	solute carrier family 27 (fatty acid transporter), member 2	289					bile acid biosynthetic process|fatty acid alpha-oxidation	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity|phytanate-CoA ligase activity|pristanate-CoA ligase activity			NS(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_lung(180;0.00177)		all cancers(107;1.16e-06)|GBM - Glioblastoma multiforme(94;0.000113)		CTTGCCTTGCGGACTAAATTT	0.398													44	66					0	0	1	0	0	A	50497454	G	A	50497454	3	1	462	1	0	0	0	0	1	0	0	0	14581	1116	39	1	880	1	SLC27A2	15	50497454	Missense_Mutation	SNP	G	TCGA-TM-A84B-01A-11D-A36O-08		50497454	52033938	29	36337											
CD19	930	broad.mit.edu	37	16	28943382	28943382	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A84B-01A-11D-A36O-08	TCGA-TM-A84B-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c782dd9-677c-4812-b310-acbef4325053	15750dd9-70fb-49e2-b349-b02ba6447d41	g.chr16:28943382G>A	ENST00000538922.1	+	1	123	c.61G>A	c.(61-63)Gag>Aag	p.E21K	CD19_ENST00000324662.3_Missense_Mutation_p.E21K|CD19_ENST00000567541.1_Missense_Mutation_p.E21K	NM_001178098.1|NM_001770.5	NP_001171569.1|NP_001761.3	P15391	CD19_HUMAN	CD19 molecule	21	Ig-like C2-type 1.				cellular defense response	external side of plasma membrane|integral to plasma membrane	protein binding|receptor signaling protein activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(4)|urinary_tract(1)	29						AGTCAGGCCCGAGGAACCTCT	0.597													36	33					0	0	1	0	0	A	28943382	G	A	28943382	3	1	462	1	0	0	0	0	1	0	0	0	2995	1059	37	1	63	1	CD19	16	28943382	Missense_Mutation	SNP	G	TCGA-TM-A84B-01A-11D-A36O-08		28943382	61411371	30	36338											
EDC4	23644	broad.mit.edu	37	16	67913854	67913854	+	Silent	SNP	T	T	C			TCGA-TM-A84B-01A-11D-A36O-08	TCGA-TM-A84B-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c782dd9-677c-4812-b310-acbef4325053	15750dd9-70fb-49e2-b349-b02ba6447d41	g.chr16:67913854T>C	ENST00000358933.5	+	16	2162	c.1923T>C	c.(1921-1923)gcT>gcC	p.A641A		NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN	enhancer of mRNA decapping 4	641	Ser-rich.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		GCACCTCAGCTGTGGACCCCT	0.612													6	9					0	0	1	0	0	C	67913854	T	C	67913854	2	2	462	1	0	0	0	0	0	0	0	1	4934	1567	55	3		3	EDC4	16	67913854	Silent	SNP	T	TCGA-TM-A84B-01A-11D-A36O-08	38970472	67913854	22440899	31	36339											
WWP2	11060	broad.mit.edu	37	16	69971126	69971126	+	Silent	SNP	C	C	T			TCGA-TM-A84B-01A-11D-A36O-08	TCGA-TM-A84B-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c782dd9-677c-4812-b310-acbef4325053	15750dd9-70fb-49e2-b349-b02ba6447d41	g.chr16:69971126C>T	ENST00000359154.2	+	20	2324	c.2223C>T	c.(2221-2223)gaC>gaT	p.D741D	WWP2_ENST00000356003.2_Silent_p.D741D|WWP2_ENST00000544162.1_3'UTR|WWP2_ENST00000448661.1_Silent_p.D741D|WWP2_ENST00000568684.1_Silent_p.D302D|WWP2_ENST00000542271.1_Silent_p.D625D	NM_001270454.1|NM_007014.4	NP_001257383.1|NP_008945.2	O00308	WWP2_HUMAN	WW domain containing E3 ubiquitin protein ligase 2	741	HECT.				entry of virus into host cell|negative regulation of protein transport|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transporter activity|proteasomal ubiquitin-dependent protein catabolic process|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|ubiquitin ligase complex	RNA polymerase II transcription factor binding|ubiquitin-protein ligase activity			breast(4)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GCTACTTTGACGAGAAAGAGC	0.602													13	12					0	0	1	0	0	T	69971126	C	T	69971126	2	4	462	1	0	0	0	0	0	0	0	1	17476	535	19	1		1	WWP2	16	69971126	Silent	SNP	C	TCGA-TM-A84B-01A-11D-A36O-08	2057272	69971126	20383627	32	36340											
CDRT4	284040	broad.mit.edu	37	17	15341350	15341350	+	Nonsense_Mutation	SNP	G	G	A			TCGA-TM-A84B-01A-11D-A36O-08	TCGA-TM-A84B-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c782dd9-677c-4812-b310-acbef4325053	15750dd9-70fb-49e2-b349-b02ba6447d41	g.chr17:15341350G>A	ENST00000312177.6	-	4	476	c.196C>T	c.(196-198)Cag>Tag	p.Q66*	TVP23C-CDRT4_ENST00000522212.2_3'UTR|TVP23C_ENST00000519970.1_3'UTR|CDRT4_ENST00000519354.1_5'UTR	NM_001204477.1	NP_001191406.1	Q8N9R6	CDRT4_HUMAN	CMT1A duplicated region transcript 4	66										endometrium(3)|skin(1)	4				UCEC - Uterine corpus endometrioid carcinoma (92;0.0874)		GGTTTATTCTGCCTTGATGCC	0.483													39	38					0	0	1	0	0	A	15341350	G	A	15341350	4	1	462	1	0	0	0	0	0	1	0	0	3198	1328	46	2	263	2	CDRT4	17	15341350	Nonsense_Mutation	SNP	G	TCGA-TM-A84B-01A-11D-A36O-08		15341350	65853860	33	36341											
HN1	51155	broad.mit.edu	37	17	73144759	73144759	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A84B-01A-11D-A36O-08	TCGA-TM-A84B-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c782dd9-677c-4812-b310-acbef4325053	15750dd9-70fb-49e2-b349-b02ba6447d41	g.chr17:73144759G>A	ENST00000409753.3	-	2	349	c.64C>T	c.(64-66)Cgg>Tgg	p.R22W	HN1_ENST00000465454.1_5'UTR|HN1_ENST00000392566.2_5'UTR|HN1_ENST00000481647.1_5'UTR|HN1_ENST00000476258.1_5'UTR|HN1_ENST00000581874.1_Missense_Mutation_p.R22W|HN1_ENST00000470924.1_5'UTR|HN1_ENST00000356033.4_Missense_Mutation_p.R22W|HN1_ENST00000405458.3_5'UTR|HN1_ENST00000482348.1_5'UTR	NM_016185.2	NP_057269.1	Q9UK76	HN1_HUMAN	hematological and neurological expressed 1	22						nucleus			HN1/USH1G(2)	breast(1)	1	all_lung(278;0.14)|Lung NSC(278;0.168)					CCTGGAGGCCGCAAAACTCTG	0.393													3	51					0	0	1	0	0	A	73144759	G	A	73144759	3	1	462	1	0	0	0	0	1	0	0	0	7290	1086	38	1	516	1	HN1	17	73144759	Missense_Mutation	SNP	G	TCGA-TM-A84B-01A-11D-A36O-08	57803409	73144759	8050451	34	36342											
SERPINB13	5275	broad.mit.edu	37	18	61264400	61264400	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A84B-01A-11D-A36O-08	TCGA-TM-A84B-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c782dd9-677c-4812-b310-acbef4325053	15750dd9-70fb-49e2-b349-b02ba6447d41	g.chr18:61264400G>A	ENST00000344731.5	+	8	1081	c.979G>A	c.(979-981)Gcc>Acc	p.A327T	SERPINB13_ENST00000269489.5_Missense_Mutation_p.A275T	NM_012397.3	NP_036529.1	Q9UIV8	SPB13_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 13	327					regulation of proteolysis|response to UV	cytoplasm|extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1)	25						CGGGTTGTACGCCCAGAAGTT	0.592													23	30					0	0	1	0	0	A	61264400	G	A	61264400	3	1	462	1	0	0	0	0	1	0	0	0	14154	1087	38	1	1005	1	SERPINB13	18	61264400	Missense_Mutation	SNP	G	TCGA-TM-A84B-01A-11D-A36O-08		61264400	16812848	35	36343											
TNFSF14	8740	broad.mit.edu	37	19	6664992	6664992	+	Missense_Mutation	SNP	C	C	T			TCGA-TM-A84B-01A-11D-A36O-08	TCGA-TM-A84B-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c782dd9-677c-4812-b310-acbef4325053	15750dd9-70fb-49e2-b349-b02ba6447d41	g.chr19:6664992C>T	ENST00000326176.9	-	5	941	c.560G>A	c.(559-561)cGc>cAc	p.R187H	TNFSF14_ENST00000245912.3_Missense_Mutation_p.R187H|TNFSF14_ENST00000599359.1_Missense_Mutation_p.R223H	NM_003807.3|NM_172014.2	NP_003798.2|NP_742011.2	O43557	TNF14_HUMAN	tumor necrosis factor (ligand) superfamily, member 14	223					cellular response to mechanical stimulus|immune response|induction of apoptosis|release of cytoplasmic sequestered NF-kappaB|T cell homeostasis|T cell proliferation	cytoplasm|extracellular space|integral to membrane|plasma membrane	caspase inhibitor activity|cytokine activity|tumor necrosis factor receptor binding			breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18						TCGAACCAGGCGTTCATCCAG	0.607													41	73					0	0	1	0	0	T	6664992	C	T	6664992	3	4	462	1	0	0	0	0	1	0	0	0	16367	768	27	1	58	1	TNFSF14	19	6664992	Missense_Mutation	SNP	C	TCGA-TM-A84B-01A-11D-A36O-08		6664992	52463991	36	36344											
ATG4D	84971	broad.mit.edu	37	19	10659651	10659651	+	Silent	SNP	C	C	T			TCGA-TM-A84B-01A-11D-A36O-08	TCGA-TM-A84B-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c782dd9-677c-4812-b310-acbef4325053	15750dd9-70fb-49e2-b349-b02ba6447d41	g.chr19:10659651C>T	ENST00000309469.4	+	6	1080	c.907C>T	c.(907-909)Ctg>Ttg	p.L303L	ATG4D_ENST00000540862.1_Intron	NM_032885.4	NP_116274.3	Q86TL0	ATG4D_HUMAN	autophagy related 4D, cysteine peptidase	303					autophagy|protein transport	cytoplasm	cysteine-type endopeptidase activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	19			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			TGTGGTCATCCTGGTGCCCGT	0.632													25	23					0	0	1	0	0	T	10659651	C	T	10659651	2	4	462	1	0	0	0	0	0	0	0	1	1098	680	24	2		2	ATG4D	19	10659651	Silent	SNP	C	TCGA-TM-A84B-01A-11D-A36O-08	3994659	10659651	48469332	37	36345											
LSM14A	26065	broad.mit.edu	37	19	34685400	34685400	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A84B-01A-11D-A36O-08	TCGA-TM-A84B-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c782dd9-677c-4812-b310-acbef4325053	15750dd9-70fb-49e2-b349-b02ba6447d41	g.chr19:34685400G>A	ENST00000544216.3	+	2	216	c.139G>A	c.(139-141)Gaa>Aaa	p.E47K	LSM14A_ENST00000433627.5_Missense_Mutation_p.E47K|LSM14A_ENST00000540746.2_Missense_Mutation_p.E47K	NM_015578.2	NP_056393.2	Q8ND56	LS14A_HUMAN	LSM14A, SCD6 homolog A (S. cerevisiae)	47					cytoplasmic mRNA processing body assembly|multicellular organismal development|regulation of translation	cytoplasmic mRNA processing body|intracellular membrane-bounded organelle|stress granule				breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(7)|skin(1)	22	Esophageal squamous(110;0.162)					CTTTGGTACAGAAGACAGACC	0.408													88	119					0	0	1	0	0	A	34685400	G	A	34685400	3	1	462	1	0	0	0	0	1	0	0	0	9099	943	33	2	145	2	LSM14A	19	34685400	Missense_Mutation	SNP	G	TCGA-TM-A84B-01A-11D-A36O-08	24025749	34685400	24443583	38	36346			1	48		3	3	97	G		1.006766e-08
LSM14A	26065	broad.mit.edu	37	19	34685448	34685448	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A84B-01A-11D-A36O-08	TCGA-TM-A84B-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c782dd9-677c-4812-b310-acbef4325053	15750dd9-70fb-49e2-b349-b02ba6447d41	g.chr19:34685448G>A	ENST00000544216.3	+	2	264	c.187G>A	c.(187-189)Gaa>Aaa	p.E63K	LSM14A_ENST00000433627.5_Missense_Mutation_p.E63K|LSM14A_ENST00000540746.2_Missense_Mutation_p.E63K	NM_015578.2	NP_056393.2	Q8ND56	LS14A_HUMAN	LSM14A, SCD6 homolog A (S. cerevisiae)	63					cytoplasmic mRNA processing body assembly|multicellular organismal development|regulation of translation	cytoplasmic mRNA processing body|intracellular membrane-bounded organelle|stress granule				breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(7)|skin(1)	22	Esophageal squamous(110;0.162)					TGAAGTCTTTGAATACATTAT	0.433													76	124					0	0	1	0	0	A	34685448	G	A	34685448	3	1	462	1	0	0	0	0	1	0	0	0	9099	1291	45	2	193	2	LSM14A	19	34685448	Missense_Mutation	SNP	G	TCGA-TM-A84B-01A-11D-A36O-08	48	34685448	24443535	39	36347			1	48		3	3	97	G		1.006766e-08
LSM14A	26065	broad.mit.edu	37	19	34685496	34685496	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A84B-01A-11D-A36O-08	TCGA-TM-A84B-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c782dd9-677c-4812-b310-acbef4325053	15750dd9-70fb-49e2-b349-b02ba6447d41	g.chr19:34685496G>A	ENST00000544216.3	+	2	312	c.235G>A	c.(235-237)Gag>Aag	p.E79K	LSM14A_ENST00000433627.5_Missense_Mutation_p.E79K|LSM14A_ENST00000540746.2_Missense_Mutation_p.E79K	NM_015578.2	NP_056393.2	Q8ND56	LS14A_HUMAN	LSM14A, SCD6 homolog A (S. cerevisiae)	79					cytoplasmic mRNA processing body assembly|multicellular organismal development|regulation of translation	cytoplasmic mRNA processing body|intracellular membrane-bounded organelle|stress granule				breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(7)|skin(1)	22	Esophageal squamous(110;0.162)					TACTGTTTGTGAGCCACCAAA	0.438													82	108					0	0	1	0	0	A	34685496	G	A	34685496	3	1	462	1	0	0	0	0	1	0	0	0	9099	1291	45	2	241	2	LSM14A	19	34685496	Missense_Mutation	SNP	G	TCGA-TM-A84B-01A-11D-A36O-08	48	34685496	24443487	40	36348			1	48		3	3	97	G		1.006766e-08
CEACAM20	125931	broad.mit.edu	37	19	45017234	45017234	+	RNA	SNP	C	C	G			TCGA-TM-A84B-01A-11D-A36O-08	TCGA-TM-A84B-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c782dd9-677c-4812-b310-acbef4325053	15750dd9-70fb-49e2-b349-b02ba6447d41	g.chr19:45017234C>G	ENST00000454753.1	-	0	1702							Q6UY09	CEA20_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 20							integral to membrane				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)	15		Prostate(69;0.0352)				GTGTTACCGTCTGGCATTTCT	0.582											OREG0025538	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	18	25					0	0	1	0	0	G	45017234	C	G	45017234	1	3	462	0	1	0	0	0	0	0	0	0	3213	913	32	4		4	CEACAM20	19	45017234	RNA	SNP	C	TCGA-TM-A84B-01A-11D-A36O-08	10331738	45017234	14111749	41	36349											
PRR12	57479	broad.mit.edu	37	19	50098262	50098263	+	Frame_Shift_Ins	INS	-	-	C			TCGA-TM-A84B-01A-11D-A36O-08	TCGA-TM-A84B-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c782dd9-677c-4812-b310-acbef4325053	15750dd9-70fb-49e2-b349-b02ba6447d41	g.chr19:50098262_50098263insC	ENST00000418929.2	+	4	682_683	c.670_671insC	c.(670-672)accfs	p.T224fs		NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN	proline rich 12	4	Pro-rich.						DNA binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		TCCAGCCCAGACCCCCCCTTAC	0.703													4	6	---	---	---	---						C	50098263	-	C	50098262	7	5	462	1	0	1	1	0	0	0	0	0	12636	275	10	0	684	0	PRR12	19	50098262	Frame_Shift_Ins	INS	-	TCGA-TM-A84B-01A-11D-A36O-08	5081028	50098262	9030721	42	36350											
NLRP2	55655	broad.mit.edu	37	19	55494752	55494752	+	Silent	SNP	C	C	T			TCGA-TM-A84B-01A-11D-A36O-08	TCGA-TM-A84B-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c782dd9-677c-4812-b310-acbef4325053	15750dd9-70fb-49e2-b349-b02ba6447d41	g.chr19:55494752C>T	ENST00000543010.1	+	6	1829	c.1686C>T	c.(1684-1686)aaC>aaT	p.N562N	NLRP2_ENST00000263437.6_Silent_p.N559N|NLRP2_ENST00000537859.1_Silent_p.N540N|NLRP2_ENST00000427260.2_Silent_p.N539N|NLRP2_ENST00000538819.1_Silent_p.N538N|NLRP2_ENST00000391721.4_Silent_p.N538N|NLRP2_ENST00000448584.2_Silent_p.N562N|NLRP2_ENST00000339757.7_Silent_p.N540N	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	562					apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		GCCTCGCTAACGAGAAGAGAG	0.542													20	49					0	0	1	0	0	T	55494752	C	T	55494752	2	4	462	1	0	0	0	0	0	0	0	1	10524	535	19	1		1	NLRP2	19	55494752	Silent	SNP	C	TCGA-TM-A84B-01A-11D-A36O-08	5396490	55494752	3634231	43	36351											
HAO1	54363	broad.mit.edu	37	20	7915166	7915166	+	Missense_Mutation	SNP	A	A	T			TCGA-TM-A84B-01A-11D-A36O-08	TCGA-TM-A84B-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c782dd9-677c-4812-b310-acbef4325053	15750dd9-70fb-49e2-b349-b02ba6447d41	g.chr20:7915166A>T	ENST00000378789.3	-	2	305	c.254T>A	c.(253-255)aTg>aAg	p.M85K		NM_017545.2	NP_060015.1	Q9UJM8	HAOX1_HUMAN	hydroxyacid oxidase (glycolate oxidase) 1	85	FMN hydroxy acid dehydrogenase.				cellular nitrogen compound metabolic process|fatty acid alpha-oxidation|glycolate catabolic process|glyoxylate metabolic process	peroxisomal matrix	FMN binding|glycolate oxidase activity|glyoxylate oxidase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						CACATGAGCCATGCGCTGCAT	0.532													23	26					0	0	1	0	0	T	7915166	A	T	7915166	3	4	462	1	0	0	0	0	1	0	0	0	6992	217	8	4	886	4	HAO1	20	7915166	Missense_Mutation	SNP	A	TCGA-TM-A84B-01A-11D-A36O-08		7915166	55110354	44	36352											
CDH22	64405	broad.mit.edu	37	20	44839196	44839196	+	Missense_Mutation	SNP	G	G	C			TCGA-TM-A84B-01A-11D-A36O-08	TCGA-TM-A84B-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c782dd9-677c-4812-b310-acbef4325053	15750dd9-70fb-49e2-b349-b02ba6447d41	g.chr20:44839196G>C	ENST00000372262.3	-	6	1436	c.1036C>G	c.(1036-1038)Ctg>Gtg	p.L346V	CDH22_ENST00000474438.1_5'UTR|CDH22_ENST00000537909.1_Missense_Mutation_p.L346V	NM_021248.1	NP_067071.1	Q9UJ99	CAD22_HUMAN	cadherin 22, type 2	346	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44		Myeloproliferative disorder(115;0.0122)				TCGAAGTCCAGGCGCTGCGGG	0.682													12	16					0	0	1	0	0	C	44839196	G	C	44839196	3	2	462	1	0	0	0	0	1	0	0	0	3129	991	35	4	1474	4	CDH22	20	44839196	Missense_Mutation	SNP	G	TCGA-TM-A84B-01A-11D-A36O-08	36924030	44839196	18186324	45	36353											
MAPK11	5600	broad.mit.edu	37	22	50705842	50705842	+	Silent	SNP	C	C	T			TCGA-TM-A84B-01A-11D-A36O-08	TCGA-TM-A84B-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c782dd9-677c-4812-b310-acbef4325053	15750dd9-70fb-49e2-b349-b02ba6447d41	g.chr22:50705842C>T	ENST00000330651.6	-	4	475	c.375G>A	c.(373-375)gaG>gaA	p.E125E	MAPK11_ENST00000449719.2_Silent_p.E17E|MAPK11_ENST00000495277.1_5'UTR	NM_002751.5	NP_002742.3	Q15759	MK11_HUMAN	mitogen-activated protein kinase 11	125	Protein kinase.				activation of MAPK activity|innate immune response|mRNA metabolic process|muscle cell differentiation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of muscle cell differentiation|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase activity|protein binding			breast(1)|central_nervous_system(1)|lung(4)	6		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		ATTGAACGTGCTCGTCGCTCA	0.701													10	2					0	0	1	0	0	T	50705842	C	T	50705842	2	4	462	1	0	0	0	0	0	0	0	1	9323	796	28	2		2	MAPK11	22	50705842	Silent	SNP	C	TCGA-TM-A84B-01A-11D-A36O-08		50705842	598724	46	36354											
SPEN	23013	broad.mit.edu	37	1	16259547	16259547	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A84C-01A-11D-A36O-08	TCGA-TM-A84C-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57d62c96-bc63-4121-b4ca-6162e23ed326	9a280df1-89bd-4b0b-8cc3-185457f517bc	g.chr1:16259547G>A	ENST00000375759.3	+	11	7016	c.6812G>A	c.(6811-6813)gGc>gAc	p.G2271D		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	2271	Interaction with MSX2 (By similarity).|RID.				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		GCTGTATCTGGCATCCTGGAA	0.557													4	126					0	0	1	0	0	A	16259547	G	A	16259547	3	1	463	1	0	0	0	0	1	0	0	0	15094	1203	42	2	6854	2	SPEN	1	16259547	Missense_Mutation	SNP	G	TCGA-TM-A84C-01A-11D-A36O-08		16259547	232991074	1	36355											
KIF21B	23046	broad.mit.edu	37	1	200960121	200960121	+	Missense_Mutation	SNP	G	G	C			TCGA-TM-A84C-01A-11D-A36O-08	TCGA-TM-A84C-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57d62c96-bc63-4121-b4ca-6162e23ed326	9a280df1-89bd-4b0b-8cc3-185457f517bc	g.chr1:200960121G>C	ENST00000332129.2	-	18	2927	c.2611C>G	c.(2611-2613)Cgc>Ggc	p.R871G	KIF21B_ENST00000461742.2_Missense_Mutation_p.R871G|KIF21B_ENST00000422435.2_Missense_Mutation_p.R871G|KIF21B_ENST00000360529.5_Missense_Mutation_p.R871G	NM_001252102.1|NM_001252103.1|NM_017596.3	NP_001239031.1|NP_001239032.1|NP_060066.2	O75037	KI21B_HUMAN	kinesin family member 21B	871					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						TTCCACTGGCGCACGATGCTG	0.617													29	43					0	0	1	0	0	C	200960121	G	C	200960121	3	2	463	1	0	0	0	0	1	0	0	0	8331	1087	38	5	2331	5	KIF21B	1	200960121	Missense_Mutation	SNP	G	TCGA-TM-A84C-01A-11D-A36O-08	184700574	200960121	48290500	2	36356											
INTS7	25896	broad.mit.edu	37	1	212120037	212120037	+	Missense_Mutation	SNP	C	C	T			TCGA-TM-A84C-01A-11D-A36O-08	TCGA-TM-A84C-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57d62c96-bc63-4121-b4ca-6162e23ed326	9a280df1-89bd-4b0b-8cc3-185457f517bc	g.chr1:212120037C>T	ENST00000366994.3	-	18	2431	c.2327G>A	c.(2326-2328)tGc>tAc	p.C776Y	INTS7_ENST00000440600.2_Missense_Mutation_p.C727Y|INTS7_ENST00000366993.3_Missense_Mutation_p.C762Y|INTS7_ENST00000469606.1_5'UTR|INTS7_ENST00000366992.3_Intron	NM_001199811.1|NM_001199812.1|NM_015434.3	NP_001186740.1|NP_001186741.1|NP_056249.1	Q9NVH2	INT7_HUMAN	integrator complex subunit 7	776					snRNA processing	integrator complex	protein binding			NS(1)|breast(1)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852)		ATTGCAGAGGCATGCTGTGTG	0.358													33	48					0	0	1	0	0	T	212120037	C	T	212120037	3	4	463	1	0	0	0	0	1	0	0	0	7827	710	25	2	573	2	INTS7	1	212120037	Missense_Mutation	SNP	C	TCGA-TM-A84C-01A-11D-A36O-08	11159916	212120037	37130584	3	36357											
H3F3A	3020	broad.mit.edu	37	1	226252135	226252135	+	Missense_Mutation	SNP	A	A	T			TCGA-TM-A84C-01A-11D-A36O-08	TCGA-TM-A84C-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57d62c96-bc63-4121-b4ca-6162e23ed326	9a280df1-89bd-4b0b-8cc3-185457f517bc	g.chr1:226252135A>T	ENST00000366814.3	+	2	204	c.83A>T	c.(82-84)aAg>aTg	p.K28M	H3F3A_ENST00000366815.3_Missense_Mutation_p.K28M|H3F3A_ENST00000366813.1_Missense_Mutation_p.K28M|H3F3A_ENST00000366816.1_Missense_Mutation_p.K28M					H3 histone, family 3A									p.K28M(79)		central_nervous_system(116)|endometrium(2)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	123	Breast(184;0.179)			GBM - Glioblastoma multiforme(131;0.203)		GCCGCTCGCAAGAGTGCGCCC	0.483			Mis		glioma						OREG0014293	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	19	22					0	0	1	0	0	T	226252135	A	T	226252135	3	4	463	1	0	0	0	0	1	0	0	0	6974	72	3	5	85	5	H3F3A	1	226252135	Missense_Mutation	SNP	A	TCGA-TM-A84C-01A-11D-A36O-08	14132098	226252135	22998486	4	36358											
OR11L1	391189	broad.mit.edu	37	1	248004826	248004826	+	Missense_Mutation	SNP	C	C	T			TCGA-TM-A84C-01A-11D-A36O-08	TCGA-TM-A84C-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57d62c96-bc63-4121-b4ca-6162e23ed326	9a280df1-89bd-4b0b-8cc3-185457f517bc	g.chr1:248004826C>T	ENST00000355784.2	-	1	428	c.373G>A	c.(373-375)Gcc>Acc	p.A125T		NM_001001959.1	NP_001001959.1	Q8NGX0	O11L1_HUMAN	olfactory receptor, family 11, subfamily L, member 1	125					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			CTGCAGATGGCCAGGTAACGG	0.592													3	29					0	0	1	0	0	T	248004826	C	T	248004826	3	4	463	1	0	0	0	0	1	0	0	0	10978	739	26	2	599	2	OR11L1	1	248004826	Missense_Mutation	SNP	C	TCGA-TM-A84C-01A-11D-A36O-08	21752691	248004826	1245795	5	36359											
PTPN4	5775	broad.mit.edu	37	2	120690023	120690023	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A84C-01A-11D-A36O-08	TCGA-TM-A84C-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57d62c96-bc63-4121-b4ca-6162e23ed326	9a280df1-89bd-4b0b-8cc3-185457f517bc	g.chr2:120690023G>A	ENST00000263708.2	+	14	1865	c.1094G>A	c.(1093-1095)cGg>cAg	p.R365Q	PTPN4_ENST00000544261.1_5'UTR	NM_002830.3	NP_002821.1	P29074	PTN4_HUMAN	protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte)	365						cytoplasm|cytoskeleton|internal side of plasma membrane	cytoskeletal protein binding|non-membrane spanning protein tyrosine phosphatase activity			endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|urinary_tract(1)	30					Alendronate(DB00630)	CCCTTGGCACGGAAATTAATG	0.353													17	20					0	0	1	0	0	A	120690023	G	A	120690023	3	1	463	1	0	0	0	0	1	0	0	0	12842	1116	39	1	1144	1	PTPN4	2	120690023	Missense_Mutation	SNP	G	TCGA-TM-A84C-01A-11D-A36O-08		120690023	122509350	6	36360											
PFKFB4	5210	broad.mit.edu	37	3	48594202	48594202	+	Silent	SNP	G	G	A			TCGA-TM-A84C-01A-11D-A36O-08	TCGA-TM-A84C-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57d62c96-bc63-4121-b4ca-6162e23ed326	9a280df1-89bd-4b0b-8cc3-185457f517bc	g.chr3:48594202G>A	ENST00000232375.3	-	1	121	c.9C>T	c.(7-9)tcC>tcT	p.S3S	PFKFB4_ENST00000536104.1_Intron|PFKFB4_ENST00000545984.1_Silent_p.S3S|PFKFB4_ENST00000383734.2_Silent_p.S3S|PFKFB4_ENST00000416568.1_Silent_p.S3S|PFKFB4_ENST00000490115.1_5'UTR|PFKFB4_ENST00000541519.1_5'UTR	NM_004567.2	NP_004558.1	Q16877	F264_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4	3	6-phosphofructo-2-kinase.				fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|urinary_tract(1)	14				BRCA - Breast invasive adenocarcinoma(193;0.0003)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684)		ATTCCCGTGGGGACGCCATCC	0.706													12	39					0	0	1	0	0	A	48594202	G	A	48594202	2	1	463	1	0	0	0	0	0	0	0	1	11811	1219	43	2		2	PFKFB4	3	48594202	Silent	SNP	G	TCGA-TM-A84C-01A-11D-A36O-08		48594202	149428228	7	36361											
WDFY3	23001	broad.mit.edu	37	4	85658466	85658466	+	Missense_Mutation	SNP	T	T	C			TCGA-TM-A84C-01A-11D-A36O-08	TCGA-TM-A84C-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57d62c96-bc63-4121-b4ca-6162e23ed326	9a280df1-89bd-4b0b-8cc3-185457f517bc	g.chr4:85658466T>C	ENST00000322366.6	-	41	7035	c.6628A>G	c.(6628-6630)Agt>Ggt	p.S2210G	WDFY3_ENST00000295888.4_Missense_Mutation_p.S2210G			Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	2210						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		TGTTTCTTACTATGTATCAGT	0.393													31	45					0	0	1	0	0	C	85658466	T	C	85658466	3	2	463	1	0	0	0	0	1	0	0	0	17330	1522	53	3	4064	3	WDFY3	4	85658466	Missense_Mutation	SNP	T	TCGA-TM-A84C-01A-11D-A36O-08		85658466	105495810	8	36362											
ADAMTS2	9509	broad.mit.edu	37	5	178581188	178581188	+	Frame_Shift_Del	DEL	C	C	-			TCGA-TM-A84C-01A-11D-A36O-08	TCGA-TM-A84C-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57d62c96-bc63-4121-b4ca-6162e23ed326	9a280df1-89bd-4b0b-8cc3-185457f517bc	g.chr5:178581188delC	ENST00000251582.7	-	8	1345	c.1244delG	c.(1243-1245)ggcfs	p.G415fs	ADAMTS2_ENST00000274609.5_Frame_Shift_Del_p.G415fs	NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	415	Peptidase M12B.				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		GTGCTCCATGCCCAGCCTGCG	0.697													2	4	---	---	---	---						-	178581188	C	-	178581188	7	5	463	1	0	1	0	1	0	0	0	0	264	739	26	0	2526	0	ADAMTS2	5	178581188	Frame_Shift_Del	DEL	C	TCGA-TM-A84C-01A-11D-A36O-08		178581188	2334072	9	36363											
ATXN1	6310	broad.mit.edu	37	6	16327894	16327894	+	Missense_Mutation	SNP	C	C	A			TCGA-TM-A84C-01A-11D-A36O-08	TCGA-TM-A84C-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57d62c96-bc63-4121-b4ca-6162e23ed326	9a280df1-89bd-4b0b-8cc3-185457f517bc	g.chr6:16327894C>A	ENST00000244769.4	-	8	1584	c.648G>T	c.(646-648)caG>caT	p.Q216H	ATXN1_ENST00000436367.1_Missense_Mutation_p.Q216H	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN	ataxin 1	216	Poly-Gln.				cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing	cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm	identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				gctgctgctgctgctgctgct	0.662													3	12					0.00909568	0.00934834	1	1	0	A	16327894	C	A	16327894	3	1	463	1	0	0	0	0	1	0	0	0	1207	796	28	4	1807	4	ATXN1	6	16327894	Missense_Mutation	SNP	C	TCGA-TM-A84C-01A-11D-A36O-08		16327894	154787173	10	36364											
SYNE1	23345	broad.mit.edu	37	6	152501297	152501297	+	Missense_Mutation	SNP	C	C	G			TCGA-TM-A84C-01A-11D-A36O-08	TCGA-TM-A84C-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57d62c96-bc63-4121-b4ca-6162e23ed326	9a280df1-89bd-4b0b-8cc3-185457f517bc	g.chr6:152501297C>G	ENST00000367255.5	-	129	24035	c.23434G>C	c.(23434-23436)Gaa>Caa	p.E7812Q	SYNE1_ENST00000356820.4_Missense_Mutation_p.E2336Q|SYNE1_ENST00000448038.1_Missense_Mutation_p.E7741Q|SYNE1_ENST00000341594.5_Missense_Mutation_p.E7424Q|SYNE1_ENST00000265368.4_Missense_Mutation_p.E7812Q|SYNE1_ENST00000423061.1_Missense_Mutation_p.E7741Q	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	7812					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		ATCATTTCTTCAATGAGAATG	0.388										HNSCC(10;0.0054)			29	48					0	0	1	0	0	G	152501297	C	G	152501297	3	3	463	1	0	0	0	0	1	0	0	0	15502	835	29	5	3104	5	SYNE1	6	152501297	Missense_Mutation	SNP	C	TCGA-TM-A84C-01A-11D-A36O-08	136173403	152501297	18613770	11	36365											
POM121	9883	broad.mit.edu	37	7	72398976	72398976	+	Missense_Mutation	SNP	A	A	G	rs147859349		TCGA-TM-A84C-01A-11D-A36O-08	TCGA-TM-A84C-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57d62c96-bc63-4121-b4ca-6162e23ed326	9a280df1-89bd-4b0b-8cc3-185457f517bc	g.chr7:72398976A>G	ENST00000395270.1	+	7	1322	c.281A>G	c.(280-282)aAt>aGt	p.N94S	POM121_ENST00000434423.2_Missense_Mutation_p.N359S|POM121_ENST00000446813.1_Missense_Mutation_p.N94S|POM121_ENST00000358357.3_Missense_Mutation_p.N94S|POM121_ENST00000257622.4_Missense_Mutation_p.N94S	NM_001257190.1	NP_001244119.1	Q96HA1	P121A_HUMAN	POM121 transmembrane nucleoporin	359	Pore side (Potential).|Required for targeting to the nucleus and nuclear pore complex.				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				CTGGTGGCCAATGGAGTCCCC	0.468													5	259					0	0	1	0	0	G	72398976	A	G	72398976	3	3	463	1	0	0	0	0	1	0	0	0	12287	101	4	3	291	3	POM121	7	72398976	Missense_Mutation	SNP	A	TCGA-TM-A84C-01A-11D-A36O-08		72398976	86739687	12	36366											
MTBP	27085	broad.mit.edu	37	8	121468835	121468835	+	Silent	SNP	A	A	G			TCGA-TM-A84C-01A-11D-A36O-08	TCGA-TM-A84C-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57d62c96-bc63-4121-b4ca-6162e23ed326	9a280df1-89bd-4b0b-8cc3-185457f517bc	g.chr8:121468835A>G	ENST00000305949.1	+	7	717	c.672A>G	c.(670-672)gtA>gtG	p.V224V		NM_022045.4	NP_071328.2	Q96DY7	MTBP_HUMAN	Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse) binding protein, 104kDa	224					cell cycle arrest					NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00503)			CTAATGTTGTATCTTTAGAAG	0.308													83	91					0	0	1	0	0	G	121468835	A	G	121468835	2	3	463	1	0	0	0	0	0	0	0	1	9960	436	16	3		3	MTBP	8	121468835	Silent	SNP	A	TCGA-TM-A84C-01A-11D-A36O-08		121468835	24895187	13	36367											
PSAT1	29968	broad.mit.edu	37	9	80921289	80921289	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A84C-01A-11D-A36O-08	TCGA-TM-A84C-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57d62c96-bc63-4121-b4ca-6162e23ed326	9a280df1-89bd-4b0b-8cc3-185457f517bc	g.chr9:80921289G>A	ENST00000376588.3	+	5	525	c.457G>A	c.(457-459)Gca>Aca	p.A153T	PSAT1_ENST00000347159.2_Missense_Mutation_p.A153T	NM_058179.2	NP_478059.1	Q9Y617	SERC_HUMAN	phosphoserine aminotransferase 1	153					L-serine biosynthetic process|pyridoxine biosynthetic process		O-phospho-L-serine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding	p.A153T(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|urinary_tract(1)	20					L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)	GTATTATTGCGCAAATGAGAC	0.463													5	448					0	0	1	0	0	A	80921289	G	A	80921289	3	1	463	1	0	0	0	0	1	0	0	0	12693	1087	38	1	475	1	PSAT1	9	80921289	Missense_Mutation	SNP	G	TCGA-TM-A84C-01A-11D-A36O-08		80921289	60292142	14	36368											
SIRT3	23410	broad.mit.edu	37	11	219035	219035	+	Missense_Mutation	SNP	G	G	C			TCGA-TM-A84C-01A-11D-A36O-08	TCGA-TM-A84C-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57d62c96-bc63-4121-b4ca-6162e23ed326	9a280df1-89bd-4b0b-8cc3-185457f517bc	g.chr11:219035G>C	ENST00000382743.4	-	6	1078	c.976C>G	c.(976-978)Cct>Gct	p.P326A	SIRT3_ENST00000529382.1_Missense_Mutation_p.P184A|SIRT3_ENST00000525319.1_Missense_Mutation_p.P245A|SIRT3_ENST00000524564.1_Missense_Mutation_p.P262A|SIRT3_ENST00000532956.1_Missense_Mutation_p.P272A	NM_001017524.2|NM_012239.5	NP_001017524.1|NP_036371.1	Q9NTG7	SIRT3_HUMAN	sirtuin 3	326	Deacetylase sirtuin-type.				chromatin silencing|protein ADP-ribosylation|protein deacetylation	mitochondrial matrix	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|NAD+ ADP-ribosyltransferase activity|NAD+ binding|protein binding|zinc ion binding			endometrium(1)|lung(5)|urinary_tract(1)	7		all_cancers(49;1.58e-09)|all_epithelial(84;2.71e-06)|Breast(177;0.000162)|Ovarian(85;0.000626)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;3.66e-27)|Epithelial(43;2.02e-26)|OV - Ovarian serous cystadenocarcinoma(40;2.9e-21)|BRCA - Breast invasive adenocarcinoma(625;3.88e-05)|Lung(200;0.111)|LUSC - Lung squamous cell carcinoma(625;0.129)		CTGGCAAAAGGCTCCACCTGA	0.602													4	14					0	0	1	0	0	C	219035	G	C	219035	3	2	463	1	0	0	0	0	1	0	0	0	14394	1203	42	5	231	5	SIRT3	11	219035	Missense_Mutation	SNP	G	TCGA-TM-A84C-01A-11D-A36O-08		219035	134787481	15	36369											
PTPRJ	5795	broad.mit.edu	37	11	48134355	48134355	+	Missense_Mutation	SNP	A	A	G			TCGA-TM-A84C-01A-11D-A36O-08	TCGA-TM-A84C-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57d62c96-bc63-4121-b4ca-6162e23ed326	9a280df1-89bd-4b0b-8cc3-185457f517bc	g.chr11:48134355A>G	ENST00000418331.2	+	3	524	c.172A>G	c.(172-174)Ata>Gta	p.I58V	PTPRJ_ENST00000440289.2_Missense_Mutation_p.I58V|PTPRJ_ENST00000526550.1_3'UTR	NM_002843.3	NP_002834.3	Q12913	PTPRJ_HUMAN	protein tyrosine phosphatase, receptor type, J	58					contact inhibition|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of T cell receptor signaling pathway|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression	cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane	beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity			breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						GGAAAATGGCATAACGCAGAT	0.428													38	48					0	0	1	0	0	G	48134355	A	G	48134355	3	3	463	1	0	0	0	0	1	0	0	0	12856	217	8	3	182	3	PTPRJ	11	48134355	Missense_Mutation	SNP	A	TCGA-TM-A84C-01A-11D-A36O-08	47915320	48134355	86872161	16	36370											
SLC22A10	387775	broad.mit.edu	37	11	63070001	63070001	+	Missense_Mutation	SNP	C	C	T			TCGA-TM-A84C-01A-11D-A36O-08	TCGA-TM-A84C-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57d62c96-bc63-4121-b4ca-6162e23ed326	9a280df1-89bd-4b0b-8cc3-185457f517bc	g.chr11:63070001C>T	ENST00000332793.6	+	7	1273	c.1271C>T	c.(1270-1272)aCg>aTg	p.T424M	SLC22A10_ENST00000535888.1_Intron|SLC22A10_ENST00000526800.1_Intron|SLC22A10_ENST00000525620.1_Intron|SLC22A10_ENST00000544661.1_Intron	NM_001039752.3	NP_001034841.3	Q63ZE4	S22AA_HUMAN	solute carrier family 22, member 10	424						integral to membrane	transmembrane transporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						TTGGCCAACACGTTTGTGCCC	0.433													33	54					0	0	1	0	0	T	63070001	C	T	63070001	3	4	463	1	0	0	0	0	1	0	0	0	14496	536	19	1	1297	1	SLC22A10	11	63070001	Missense_Mutation	SNP	C	TCGA-TM-A84C-01A-11D-A36O-08	14935646	63070001	71936515	17	36371											
TYRO3	7301	broad.mit.edu	37	15	41865222	41865222	+	Missense_Mutation	SNP	T	T	G			TCGA-TM-A84C-01A-11D-A36O-08	TCGA-TM-A84C-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57d62c96-bc63-4121-b4ca-6162e23ed326	9a280df1-89bd-4b0b-8cc3-185457f517bc	g.chr15:41865222T>G	ENST00000263798.3	+	16	2122	c.1898T>G	c.(1897-1899)aTc>aGc	p.I633S	TYRO3_ENST00000559066.1_Missense_Mutation_p.I588S	NM_006293.3	NP_006284.2	Q06418	TYRO3_HUMAN	TYRO3 protein tyrosine kinase	633	Protein kinase.					integral to plasma membrane	ATP binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(26)|ovary(3)|prostate(1)	43		all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117)		CAGACCCTGATCCGGTTCATG	0.592													24	61					0	0	1	0	0	G	41865222	T	G	41865222	3	3	463	1	0	0	0	0	1	0	0	0	16876	1435	50	4	1960	4	TYRO3	15	41865222	Missense_Mutation	SNP	T	TCGA-TM-A84C-01A-11D-A36O-08		41865222	60666170	18	36372											
ANKFY1	51479	broad.mit.edu	37	17	4088218	4088218	+	Missense_Mutation	SNP	C	C	T			TCGA-TM-A84C-01A-11D-A36O-08	TCGA-TM-A84C-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57d62c96-bc63-4121-b4ca-6162e23ed326	9a280df1-89bd-4b0b-8cc3-185457f517bc	g.chr17:4088218C>T	ENST00000341657.4	-	12	1629	c.1594G>A	c.(1594-1596)Gca>Aca	p.A532T	ANKFY1_ENST00000574367.1_Missense_Mutation_p.A532T|ANKFY1_ENST00000573722.1_5'UTR|ANKFY1_ENST00000570535.1_Missense_Mutation_p.A574T|CYB5D2_ENST00000573984.1_Intron	NM_016376.3	NP_057460.3	Q9P2R3	ANFY1_HUMAN	ankyrin repeat and FYVE domain containing 1	532						endosome membrane	metal ion binding|protein binding	p.A532T(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|liver(1)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						GTCAGGGATGCGGCCTCCTTT	0.622													3	61					0	0	1	0	0	T	4088218	C	T	4088218	3	4	463	1	0	0	0	0	1	0	0	0	622	768	27	1	1974	1	ANKFY1	17	4088218	Missense_Mutation	SNP	C	TCGA-TM-A84C-01A-11D-A36O-08		4088218	77106992	19	36373											
NF1	4763	broad.mit.edu	37	17	29508796	29508797	+	Frame_Shift_Ins	INS	-	-	A			TCGA-TM-A84C-01A-11D-A36O-08	TCGA-TM-A84C-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57d62c96-bc63-4121-b4ca-6162e23ed326	9a280df1-89bd-4b0b-8cc3-185457f517bc	g.chr17:29508796_29508797insA	ENST00000358273.4	+	7	1106_1107	c.723_724insA	c.(724-726)atgfs	p.M242fs	NF1_ENST00000356175.3_Frame_Shift_Ins_p.M242fs|NF1_ENST00000431387.4_Frame_Shift_Ins_p.M242fs	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	242					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		CACAGACTGATATGGCTGGTAA	0.317			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			20	70	---	---	---	---						A	29508797	-	A	29508796	7	5	463	1	0	1	1	0	0	0	0	0	10403	1403	49	0	749	0	NF1	17	29508796	Frame_Shift_Ins	INS	-	TCGA-TM-A84C-01A-11D-A36O-08	25420578	29508796	51686414	20	36374											
NF1	4763	broad.mit.edu	37	17	29665157	29665157	+	Splice_Site	SNP	G	G	A			TCGA-TM-A84C-01A-11D-A36O-08	TCGA-TM-A84C-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57d62c96-bc63-4121-b4ca-6162e23ed326	9a280df1-89bd-4b0b-8cc3-185457f517bc	g.chr17:29665157G>A	ENST00000358273.4	+	45	7202	c.6819G>A	c.(6817-6819)aaG>aaA	p.K2273K	NF1_ENST00000356175.3_Splice_Site_p.K2252K|NF1_ENST00000417592.2_Intron|NF1_ENST00000444181.2_Splice_Site_p.K66K	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	2273					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(3)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TTCTTAGCAAGGTACCTGTTC	0.388			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			51	70					0	0	1	0	0	A	29665157	G	A	29665157	5	1	463	1	0	0	0	0	0	0	1	0	10403	1014	35	2	7058	2	NF1	17	29665157	Splice_Site	SNP	G	TCGA-TM-A84C-01A-11D-A36O-08	156361	29665157	51530053	21	36375											
PPM1D	8493	broad.mit.edu	37	17	58734108	58734108	+	Missense_Mutation	SNP	A	A	G			TCGA-TM-A84C-01A-11D-A36O-08	TCGA-TM-A84C-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57d62c96-bc63-4121-b4ca-6162e23ed326	9a280df1-89bd-4b0b-8cc3-185457f517bc	g.chr17:58734108A>G	ENST00000305921.3	+	5	1398	c.1166A>G	c.(1165-1167)gAt>gGt	p.D389G		NM_003620.3	NP_003611.1	O15297	PPM1D_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1D	389					negative regulation of cell proliferation|protein dephosphorylation|response to radiation	nucleus|protein serine/threonine phosphatase complex	metal ion binding|protein binding|protein serine/threonine phosphatase activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	15	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;6.75e-12)|all cancers(12;1.96e-10)			ACCAATGAAGATGAGTTATAC	0.468													30	60					0	0	1	0	0	G	58734108	A	G	58734108	3	3	463	1	0	0	0	0	1	0	0	0	12386	333	12	3	1184	3	PPM1D	17	58734108	Missense_Mutation	SNP	A	TCGA-TM-A84C-01A-11D-A36O-08	29068951	58734108	22461102	22	36376											
EMR2	30817	broad.mit.edu	37	19	14854471	14854471	+	Missense_Mutation	SNP	T	T	C			TCGA-TM-A84C-01A-11D-A36O-08	TCGA-TM-A84C-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57d62c96-bc63-4121-b4ca-6162e23ed326	9a280df1-89bd-4b0b-8cc3-185457f517bc	g.chr19:14854471T>C	ENST00000315576.3	-	19	2760	c.2309A>G	c.(2308-2310)cAg>cGg	p.Q770R	EMR2_ENST00000601345.1_Missense_Mutation_p.Q759R|EMR2_ENST00000594294.1_Missense_Mutation_p.Q721R|EMR2_ENST00000392965.3_Missense_Mutation_p.Q712R|EMR2_ENST00000353005.1_Missense_Mutation_p.Q628R|EMR2_ENST00000392967.2_Missense_Mutation_p.Q759R|EMR2_ENST00000346057.1_Missense_Mutation_p.Q721R|EMR2_ENST00000595839.1_Missense_Mutation_p.Q628R|EMR2_ENST00000594076.1_Missense_Mutation_p.Q677R|EMR2_ENST00000353876.1_Missense_Mutation_p.Q677R|EMR2_ENST00000596991.2_Missense_Mutation_p.Q759R	NM_013447.3	NP_038475.2	Q9UHX3	EMR2_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 2	770					cell adhesion|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	48						GAAGACACCCTGCAGGCTGTT	0.607													8	134					0	0	1	0	0	C	14854471	T	C	14854471	3	2	463	1	0	0	0	0	1	0	0	0	5133	1580	55	3	174	3	EMR2	19	14854471	Missense_Mutation	SNP	T	TCGA-TM-A84C-01A-11D-A36O-08		14854471	44274512	23	36377											
ZNF606	80095	broad.mit.edu	37	19	58491114	58491114	+	Missense_Mutation	SNP	T	T	A			TCGA-TM-A84C-01A-11D-A36O-08	TCGA-TM-A84C-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57d62c96-bc63-4121-b4ca-6162e23ed326	9a280df1-89bd-4b0b-8cc3-185457f517bc	g.chr19:58491114T>A	ENST00000341164.4	-	7	1554	c.934A>T	c.(934-936)Aca>Tca	p.T312S	ZNF606_ENST00000536132.1_Missense_Mutation_p.T222S	NM_025027.3	NP_079303.2	Q8WXB4	ZN606_HUMAN	zinc finger protein 606	312					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)		TTTTCTCCTGTGTGAATTCCT	0.343													33	48					0	0	1	0	0	A	58491114	T	A	58491114	3	1	463	1	0	0	0	0	1	0	0	0	18089	1696	59	5	1448	5	ZNF606	19	58491114	Missense_Mutation	SNP	T	TCGA-TM-A84C-01A-11D-A36O-08	43636643	58491114	637869	24	36378											
JAG1	182	broad.mit.edu	37	20	10622217	10622217	+	Missense_Mutation	SNP	C	C	T			TCGA-TM-A84C-01A-11D-A36O-08	TCGA-TM-A84C-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57d62c96-bc63-4121-b4ca-6162e23ed326	9a280df1-89bd-4b0b-8cc3-185457f517bc	g.chr20:10622217C>T	ENST00000254958.5	-	23	3322	c.2807G>A	c.(2806-2808)tGt>tAt	p.C936Y	JAG1_ENST00000423891.2_Missense_Mutation_p.C777Y	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN	jagged 1	936					angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation	extracellular region|integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding|structural molecule activity			biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						GGAAGACCGACACTCGCCCAC	0.567									Alagille Syndrome				83	108					0	0	1	0	0	T	10622217	C	T	10622217	3	4	463	1	0	0	0	0	1	0	0	0	7978	478	17	2	865	2	JAG1	20	10622217	Missense_Mutation	SNP	C	TCGA-TM-A84C-01A-11D-A36O-08		10622217	52403303	25	36379											
UBR4	23352	broad.mit.edu	37	1	19468015	19468015	+	Missense_Mutation	SNP	C	C	G			TCGA-TM-A84F-01A-11D-A36O-08	TCGA-TM-A84F-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a349181-af96-4b55-a643-2e29432c06cc	eb1db492-2bce-4a43-b8bd-3803b6552fd9	g.chr1:19468015C>G	ENST00000375267.2	-	57	8317	c.8314G>C	c.(8314-8316)Gag>Cag	p.E2772Q	UBR4_ENST00000375254.3_Missense_Mutation_p.E2772Q|UBR4_ENST00000375226.2_Missense_Mutation_p.E2783Q|UBR4_ENST00000375217.2_Missense_Mutation_p.E2800Q			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	2772					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		ACCATCGACTCAGACTGCAGA	0.552													11	45					0	0	1	0	0	G	19468015	C	G	19468015	3	3	464	1	0	0	0	0	1	0	0	0	16965	835	29	5	7437	5	UBR4	1	19468015	Missense_Mutation	SNP	C	TCGA-TM-A84F-01A-11D-A36O-08		19468015	229782606	1	36380											
L1TD1	54596	broad.mit.edu	37	1	62676147	62676147	+	Silent	SNP	T	T	C			TCGA-TM-A84F-01A-11D-A36O-08	TCGA-TM-A84F-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a349181-af96-4b55-a643-2e29432c06cc	eb1db492-2bce-4a43-b8bd-3803b6552fd9	g.chr1:62676147T>C	ENST00000498273.1	+	4	1996	c.1701T>C	c.(1699-1701)gaT>gaC	p.D567D		NM_001164835.1|NM_019079.4	NP_001158307.1|NP_061952.3	Q5T7N2	LITD1_HUMAN	LINE-1 type transposase domain containing 1	567										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	35						TGAGTCATGATGAGCATAAAA	0.423													18	42					0	0	1	0	0	C	62676147	T	C	62676147	2	2	464	1	0	0	0	0	0	0	0	1	8628	1461	51	3		3	L1TD1	1	62676147	Silent	SNP	T	TCGA-TM-A84F-01A-11D-A36O-08	43208132	62676147	186574474	2	36381											
TTN	7273	broad.mit.edu	37	2	179438184	179438184	+	Silent	SNP	C	C	T			TCGA-TM-A84F-01A-11D-A36O-08	TCGA-TM-A84F-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a349181-af96-4b55-a643-2e29432c06cc	eb1db492-2bce-4a43-b8bd-3803b6552fd9	g.chr2:179438184C>T	ENST00000589042.1	-	326	72899	c.72675G>A	c.(72673-72675)ccG>ccA	p.P24225P	TTN_ENST00000591111.1_Silent_p.P22584P|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Silent_p.P15285P|TTN_ENST00000460472.2_Silent_p.P15160P|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Silent_p.P15352P|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000342992.6_Silent_p.P21657P|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	22584	Ig-like 121.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGTTTTTGGGCGGATCAGGGG	0.438													37	65					0	0	1	0	0	T	179438184	C	T	179438184	2	4	464	1	0	0	0	0	0	0	0	1	16797	755	27	1		1	TTN	2	179438184	Silent	SNP	C	TCGA-TM-A84F-01A-11D-A36O-08		179438184	63761189	3	36382											
TTN	7273	broad.mit.edu	37	2	179595438	179595438	+	Missense_Mutation	SNP	A	A	G			TCGA-TM-A84F-01A-11D-A36O-08	TCGA-TM-A84F-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a349181-af96-4b55-a643-2e29432c06cc	eb1db492-2bce-4a43-b8bd-3803b6552fd9	g.chr2:179595438A>G	ENST00000589042.1	-	61	18046	c.17822T>C	c.(17821-17823)aTa>aCa	p.I5941T	TTN_ENST00000591111.1_Missense_Mutation_p.I5624T|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.I4697T	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	5624	Ig-like 40.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCCAGCCACTATACATTCTAA	0.358													4	78					0	0	1	0	0	G	179595438	A	G	179595438	3	3	464	1	0	0	0	0	1	0	0	0	16797	449	16	3	86915	3	TTN	2	179595438	Missense_Mutation	SNP	A	TCGA-TM-A84F-01A-11D-A36O-08	157254	179595438	63603935	4	36383											
CWC22	57703	broad.mit.edu	37	2	180835797	180835797	+	Missense_Mutation	SNP	C	C	T			TCGA-TM-A84F-01A-11D-A36O-08	TCGA-TM-A84F-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a349181-af96-4b55-a643-2e29432c06cc	eb1db492-2bce-4a43-b8bd-3803b6552fd9	g.chr2:180835797C>T	ENST00000410053.3	-	9	1110	c.811G>A	c.(811-813)Gaa>Aaa	p.E271K	CWC22_ENST00000295749.6_Missense_Mutation_p.E271K	NM_020943.2	NP_065994.1	Q9HCG8	CWC22_HUMAN	CWC22 spliceosome-associated protein homolog (S. cerevisiae)	271	MIF4G.					catalytic step 2 spliceosome	protein binding|RNA binding	p.E271K(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(8)|stomach(1)	30						CATAATACTTCGTGTGCCTTA	0.299													4	12					0	0	1	0	0	T	180835797	C	T	180835797	3	4	464	1	0	0	0	0	1	0	0	0	4091	893	31	1	1963	1	CWC22	2	180835797	Missense_Mutation	SNP	C	TCGA-TM-A84F-01A-11D-A36O-08	1240359	180835797	62363576	5	36384											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-TM-A84F-01A-11D-A36O-08	TCGA-TM-A84F-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a349181-af96-4b55-a643-2e29432c06cc	eb1db492-2bce-4a43-b8bd-3803b6552fd9	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	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								14	43					0	0	1	0	0	T	209113112	C	T	209113112	3	4	464	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-TM-A84F-01A-11D-A36O-08	28277315	209113112	34086261	6	36385											
ROBO2	6092	broad.mit.edu	37	3	77638042	77638042	+	Missense_Mutation	SNP	T	T	C			TCGA-TM-A84F-01A-11D-A36O-08	TCGA-TM-A84F-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a349181-af96-4b55-a643-2e29432c06cc	eb1db492-2bce-4a43-b8bd-3803b6552fd9	g.chr3:77638042T>C	ENST00000461745.1	+	17	3541	c.2641T>C	c.(2641-2643)Tat>Cat	p.Y881H	ROBO2_ENST00000332191.8_Missense_Mutation_p.Y881H|ROBO2_ENST00000487694.3_Missense_Mutation_p.Y897H	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	881					apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		CATATGGTTGTATTGGCGAAG	0.408													7	63					0	0	1	0	0	C	77638042	T	C	77638042	3	2	464	1	0	0	0	0	1	0	0	0	13566	1638	57	3	2709	3	ROBO2	3	77638042	Missense_Mutation	SNP	T	TCGA-TM-A84F-01A-11D-A36O-08		77638042	120384388	7	36386											
PIK3CA	5290	broad.mit.edu	37	3	178952048	178952048	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A84F-01A-11D-A36O-08	TCGA-TM-A84F-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a349181-af96-4b55-a643-2e29432c06cc	eb1db492-2bce-4a43-b8bd-3803b6552fd9	g.chr3:178952048G>A	ENST00000263967.3	+	21	3260	c.3103G>A	c.(3103-3105)Gct>Act	p.A1035T		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1035	PI3K/PI4K.		A -> V (in cancer).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.A1035T(2)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TGAGCAAGAGGCTTTGGAGTA	0.388		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			3	56					0	0	1	0	0	A	178952048	G	A	178952048	3	1	464	1	0	0	0	0	1	0	0	0	11961	1203	42	2	3181	2	PIK3CA	3	178952048	Missense_Mutation	SNP	G	TCGA-TM-A84F-01A-11D-A36O-08	101314006	178952048	19070382	8	36387											
EREG	2069	broad.mit.edu	37	4	75248410	75248410	+	Silent	SNP	C	C	T			TCGA-TM-A84F-01A-11D-A36O-08	TCGA-TM-A84F-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a349181-af96-4b55-a643-2e29432c06cc	eb1db492-2bce-4a43-b8bd-3803b6552fd9	g.chr4:75248410C>T	ENST00000244869.2	+	4	493	c.327C>T	c.(325-327)acC>acT	p.T109T	EREG_ENST00000503689.1_3'UTR	NM_001432.2	NP_001423.1	O14944	EREG_HUMAN	epiregulin	109					angiogenesis|cell-cell signaling|cytokine-mediated signaling pathway|epidermal growth factor receptor signaling pathway|female meiosis|keratinocyte differentiation|keratinocyte proliferation|luteinizing hormone signaling pathway|mRNA transcription|negative regulation of epithelial cell proliferation|negative regulation of smooth muscle cell differentiation|negative regulation of transcription, DNA-dependent|oocyte maturation|organ morphogenesis|ovarian cumulus expansion|ovulation|positive regulation of cell division|positive regulation of cytokine production|positive regulation of DNA replication|positive regulation of epidermal growth factor receptor activity|positive regulation of fibroblast proliferation|positive regulation of innate immune response|positive regulation of interleukin-6 biosynthetic process|positive regulation of mitosis|positive regulation of phosphorylation|positive regulation of smooth muscle cell proliferation|primary follicle stage|wound healing	extracellular space|integral to plasma membrane	epidermal growth factor receptor binding|growth factor activity			breast(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(1)	13			Lung(101;0.196)			TCTTTTTAACCGTCCACCAAC	0.368													4	70					0	0	1	0	0	T	75248410	C	T	75248410	2	4	464	1	0	0	0	0	0	0	0	1	5248	639	23	1		1	EREG	4	75248410	Silent	SNP	C	TCGA-TM-A84F-01A-11D-A36O-08		75248410	115905866	9	36388											
MEPE	56955	broad.mit.edu	37	4	88766136	88766136	+	Frame_Shift_Del	DEL	A	A	-			TCGA-TM-A84F-01A-11D-A36O-08	TCGA-TM-A84F-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a349181-af96-4b55-a643-2e29432c06cc	eb1db492-2bce-4a43-b8bd-3803b6552fd9	g.chr4:88766136delA	ENST00000497649.2	+	6	422	c.44delA	c.(43-45)gaafs	p.E15fs	MEPE_ENST00000540395.1_5'UTR|MEPE_ENST00000560249.1_5'UTR|MEPE_ENST00000395102.4_Frame_Shift_Del_p.E70fs|MEPE_ENST00000511670.1_Frame_Shift_Del_p.K83fs|MEPE_ENST00000424957.3_Frame_Shift_Del_p.E39fs|MEPE_ENST00000361056.3_Frame_Shift_Del_p.E39fs|MEPE_ENST00000508016.1_3'UTR			Q9NQ76	MEPE_HUMAN	matrix extracellular phosphoglycoprotein	39					skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000432)		TAGCAGGAAGAAAAAAACAAA	0.259													13	23	---	---	---	---						-	88766136	A	-	88766136	7	5	464	1	0	1	0	1	0	0	0	0	9528	246	9	0	126	0	MEPE	4	88766136	Frame_Shift_Del	DEL	A	TCGA-TM-A84F-01A-11D-A36O-08	13517726	88766136	102388140	10	36389											
TTYH3	80727	broad.mit.edu	37	7	2689592	2689592	+	Missense_Mutation	SNP	A	A	G			TCGA-TM-A84F-01A-11D-A36O-08	TCGA-TM-A84F-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a349181-af96-4b55-a643-2e29432c06cc	eb1db492-2bce-4a43-b8bd-3803b6552fd9	g.chr7:2689592A>G	ENST00000258796.7	+	7	1046	c.841A>G	c.(841-843)Atg>Gtg	p.M281V	TTYH3_ENST00000477439.1_3'UTR|TTYH3_ENST00000407643.1_Missense_Mutation_p.M249V|TTYH3_ENST00000403167.1_Missense_Mutation_p.M110V	NM_025250.2	NP_079526.1	Q9C0H2	TTYH3_HUMAN	tweety family member 3	281						chloride channel complex|plasma membrane	chloride channel activity			kidney(1)|large_intestine(3)|lung(9)|prostate(2)|upper_aerodigestive_tract(2)	17		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;2.04e-14)		CGTGACCAAAATGGTGGAGGA	0.622													11	33					0	0	1	0	0	G	2689592	A	G	2689592	3	3	464	1	0	0	0	0	1	0	0	0	16803	101	4	3	867	3	TTYH3	7	2689592	Missense_Mutation	SNP	A	TCGA-TM-A84F-01A-11D-A36O-08		2689592	156449071	11	36390											
GSX1	219409	broad.mit.edu	37	13	28367943	28367944	+	Frame_Shift_Ins	INS	-	-	T			TCGA-TM-A84F-01A-11D-A36O-08	TCGA-TM-A84F-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a349181-af96-4b55-a643-2e29432c06cc	eb1db492-2bce-4a43-b8bd-3803b6552fd9	g.chr13:28367943_28367944insT	ENST00000302945.2	+	2	701_702	c.653_654insT	c.(652-657)ggtgccfs	p.A219fs		NM_145657.1	NP_663632.1	Q9H4S2	GSX1_HUMAN	GS homeobox 1	219	Poly-Gly.				positive regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(1)|lung(1)|ovary(1)	4		Lung SC(185;0.0161)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	GBM - Glioblastoma multiforme(144;0.0402)|all cancers(112;0.0404)|OV - Ovarian serous cystadenocarcinoma(117;0.197)		ggcggcgggggtgccggtggtg	0.629													14	26	---	---	---	---						T	28367944	-	T	28367943	7	5	464	1	0	1	1	0	0	0	0	0	6890	1261	44	0	659	0	GSX1	13	28367943	Frame_Shift_Ins	INS	-	TCGA-TM-A84F-01A-11D-A36O-08		28367943	86801935	12	36391											
DUOX2	50506	broad.mit.edu	37	15	45397878	45397878	+	Missense_Mutation	SNP	C	C	T			TCGA-TM-A84F-01A-11D-A36O-08	TCGA-TM-A84F-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a349181-af96-4b55-a643-2e29432c06cc	eb1db492-2bce-4a43-b8bd-3803b6552fd9	g.chr15:45397878C>T	ENST00000389039.6	-	18	2682	c.2297G>A	c.(2296-2298)cGc>cAc	p.R766H	DUOX2_ENST00000603300.1_Missense_Mutation_p.R766H			Q9NRD8	DUOX2_HUMAN	dual oxidase 2	766					cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		CTCCAGGATGCGTTCCCGCTG	0.562													26	46					0	0	1	0	0	T	45397878	C	T	45397878	3	4	464	1	0	0	0	0	1	0	0	0	4827	768	27	1	2417	1	DUOX2	15	45397878	Missense_Mutation	SNP	C	TCGA-TM-A84F-01A-11D-A36O-08		45397878	57133514	13	36392											
TCF12	6938	broad.mit.edu	37	15	57524624	57524625	+	Frame_Shift_Ins	INS	-	-	C			TCGA-TM-A84F-01A-11D-A36O-08	TCGA-TM-A84F-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a349181-af96-4b55-a643-2e29432c06cc	eb1db492-2bce-4a43-b8bd-3803b6552fd9	g.chr15:57524624_57524625insC	ENST00000267811.5	+	10	1125_1126	c.821_822insC	c.(820-825)cgcttgfs	p.RL274fs	TCF12_ENST00000438423.2_Frame_Shift_Ins_p.RL274fs|TCF12_ENST00000333725.5_Frame_Shift_Ins_p.RL274fs|TCF12_ENST00000452095.2_Frame_Shift_Ins_p.RL270fs|TCF12_ENST00000543579.1_Frame_Shift_Ins_p.RL104fs|TCF12_ENST00000557843.1_Frame_Shift_Ins_p.RL274fs|TCF12_ENST00000537840.1_Intron|TCF12_ENST00000560764.1_Intron|TCF12_ENST00000343827.3_Frame_Shift_Ins_p.RL104fs	NM_003205.3|NM_207038.1	NP_003196.1|NP_996921.1	Q99081	HTF4_HUMAN	transcription factor 12	274					immune response|muscle organ development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity		TCF12/NR4A3(2)	breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	36		Colorectal(260;0.0907)		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)		TCACATGACCGCTTGGTAGGCT	0.446			T	TEC	extraskeletal myxoid chondrosarcoma								34	48	---	---	---	---						C	57524625	-	C	57524624	7	5	464	1	0	1	1	0	0	0	0	0	15747	1087	38	0	928	0	TCF12	15	57524624	Frame_Shift_Ins	INS	-	TCGA-TM-A84F-01A-11D-A36O-08	12126746	57524624	45006768	14	36393											
HERC1	8925	broad.mit.edu	37	15	63933734	63933734	+	Missense_Mutation	SNP	G	G	C			TCGA-TM-A84F-01A-11D-A36O-08	TCGA-TM-A84F-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a349181-af96-4b55-a643-2e29432c06cc	eb1db492-2bce-4a43-b8bd-3803b6552fd9	g.chr15:63933734G>C	ENST00000443617.2	-	60	11629	c.11542C>G	c.(11542-11544)Ccc>Gcc	p.P3848A		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	3848					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						CTCATGCAGGGAGCCATGTTC	0.483													10	17					0	0	1	0	0	C	63933734	G	C	63933734	3	2	464	1	0	0	0	0	1	0	0	0	7098	1174	41	5	3119	5	HERC1	15	63933734	Missense_Mutation	SNP	G	TCGA-TM-A84F-01A-11D-A36O-08	6409110	63933734	38597658	15	36394											
IQGAP1	8826	broad.mit.edu	37	15	91016190	91016190	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A84F-01A-11D-A36O-08	TCGA-TM-A84F-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a349181-af96-4b55-a643-2e29432c06cc	eb1db492-2bce-4a43-b8bd-3803b6552fd9	g.chr15:91016190G>A	ENST00000268182.5	+	19	2421	c.2297G>A	c.(2296-2298)cGa>cAa	p.R766Q	IQGAP1_ENST00000560738.1_Missense_Mutation_p.R194Q	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	766	IQ 1.				energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction	actin filament|cytoplasm|midbody|nucleus|plasma membrane	calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity			breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			CAGGAATTCCGATCCAGGATG	0.517													36	73					0	0	1	0	0	A	91016190	G	A	91016190	3	1	464	1	0	0	0	0	1	0	0	0	7858	1058	37	1	2371	1	IQGAP1	15	91016190	Missense_Mutation	SNP	G	TCGA-TM-A84F-01A-11D-A36O-08	27082456	91016190	11515202	16	36395											
TP53	7157	broad.mit.edu	37	17	7577139	7577139	+	Missense_Mutation	SNP	G	G	A	rs55832599		TCGA-TM-A84F-01A-11D-A36O-08	TCGA-TM-A84F-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a349181-af96-4b55-a643-2e29432c06cc	eb1db492-2bce-4a43-b8bd-3803b6552fd9	g.chr17:7577139G>A	ENST00000420246.2	-	8	931	c.799C>T	c.(799-801)Cgg>Tgg	p.R267W	TP53_ENST00000359597.4_Missense_Mutation_p.R267W|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.R267W|TP53_ENST00000445888.2_Missense_Mutation_p.R267W|TP53_ENST00000269305.4_Missense_Mutation_p.R267W	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	267	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> G (in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in sporadic cancers; somatic mutation; dbSNP:rs55832599).		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.R267W(25)|p.0?(8)|p.?(3)|p.G262_F270delGNLLGRNSF(2)|p.G266_E271delGRNSFE(2)|p.G262_S269delGNLLGRNS(2)|p.G266fs*4(1)|p.L265_K305del41(1)|p.E258fs*71(1)|p.R267G(1)|p.R267R(1)|p.L265_R267delLGR(1)|p.G266_N268delGRN(1)|p.G262fs*2(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)		AAGCTGTTCCGTCCCAGTAGA	0.522		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)			5	7					0	0	1	0	0	A	7577139	G	A	7577139	3	1	464	1	0	0	0	0	1	0	0	0	16442	1144	40	1	487	1	TP53	17	7577139	Missense_Mutation	SNP	G	TCGA-TM-A84F-01A-11D-A36O-08		7577139	73618071	17	36396											
TP53	7157	broad.mit.edu	37	17	7577532	7577532	+	Missense_Mutation	SNP	G	G	C			TCGA-TM-A84F-01A-11D-A36O-08	TCGA-TM-A84F-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a349181-af96-4b55-a643-2e29432c06cc	eb1db492-2bce-4a43-b8bd-3803b6552fd9	g.chr17:7577532G>C	ENST00000420246.2	-	7	881	c.749C>G	c.(748-750)cCc>cGc	p.P250R	TP53_ENST00000359597.4_Missense_Mutation_p.P250R|TP53_ENST00000413465.2_Missense_Mutation_p.P250R|TP53_ENST00000455263.2_Missense_Mutation_p.P250R|TP53_ENST00000445888.2_Missense_Mutation_p.P250R|TP53_ENST00000269305.4_Missense_Mutation_p.P250R	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	250	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).		P -> A (in sporadic cancers; somatic mutation).|P -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> H (in sporadic cancers; somatic mutation).|P -> L (in sporadic cancers; somatic mutation).|P -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> Q (in sporadic cancers; somatic mutation).|P -> S (in sporadic cancers; somatic mutation).|P -> T (in sporadic cancers; somatic mutation).|RP -> SA (in a sporadic cancer; somatic mutation).|RP -> SS (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.P250L(45)|p.0?(8)|p.?(5)|p.P250H(4)|p.P250F(3)|p.P250N(2)|p.M246_P250delMNRRP(2)|p.P250_L252delPIL(2)|p.P250Q(2)|p.R248_P250delRRP(1)|p.P250_T253delPILT(1)|p.N247_P250delNRRP(1)|p.R249_P250delRP(1)|p.R249_T256delRPILTIIT(1)|p.I251fs*94(1)|p.R249_I251delRPI(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)		GGTGAGGATGGGCCTCCGGTT	0.577		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)			3	32					0	0	1	0	0	C	7577532	G	C	7577532	3	2	464	1	0	0	0	0	1	0	0	0	16442	1232	43	5	541	5	TP53	17	7577532	Missense_Mutation	SNP	G	TCGA-TM-A84F-01A-11D-A36O-08	393	7577532	73617678	18	36397											
ARHGEF15	22899	broad.mit.edu	37	17	8215743	8215743	+	Missense_Mutation	SNP	C	C	T			TCGA-TM-A84F-01A-11D-A36O-08	TCGA-TM-A84F-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a349181-af96-4b55-a643-2e29432c06cc	eb1db492-2bce-4a43-b8bd-3803b6552fd9	g.chr17:8215743C>T	ENST00000361926.3	+	2	496	c.386C>T	c.(385-387)aCg>aTg	p.T129M	ARHGEF15_ENST00000421050.1_Missense_Mutation_p.T129M	NM_173728.3	NP_776089.2	O94989	ARHGF_HUMAN	Rho guanine nucleotide exchange factor (GEF) 15	129	Pro-rich.				negative regulation of synapse maturation|regulation of Rho protein signal transduction	dendrite|intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						TCACCCTGCACGCCTCTGCTC	0.672													53	31					0	0	1	0	0	T	8215743	C	T	8215743	3	4	464	1	0	0	0	0	1	0	0	0	895	536	19	1	388	1	ARHGEF15	17	8215743	Missense_Mutation	SNP	C	TCGA-TM-A84F-01A-11D-A36O-08	638211	8215743	72979467	19	36398											
MED1	5469	broad.mit.edu	37	17	37580057	37580059	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-TM-A84F-01A-11D-A36O-08	TCGA-TM-A84F-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a349181-af96-4b55-a643-2e29432c06cc	eb1db492-2bce-4a43-b8bd-3803b6552fd9	g.chr17:37580057_37580059delGAG	ENST00000300651.6	-	12	1090_1092	c.867_869delCTC	c.(865-870)tcctca>tca	p.289_290SS>S	MED1_ENST00000394287.3_In_Frame_Del_p.289_290SS>S	NM_004774.3	NP_004765.2	Q15648	MED1_HUMAN	mediator complex subunit 1	289	Interaction with ESR1.|Interaction with the Mediator complex and THRA.|Interaction with the Mediator complex.				androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		ACTGGTGATTGAGGAGAAGGAAG	0.409										HNSCC(31;0.082)			9	44	---	---	---	---						-	37580059	GAG	-	37580057	7	5	464	1	0	1	0	1	0	0	0	0	9475	1294	45	0	3900	0	MED1	17	37580057	In_Frame_Del	DEL	GAG	TCGA-TM-A84F-01A-11D-A36O-08	29364314	37580057	43615153	20	36399											
ABCA9	10350	broad.mit.edu	37	17	67023806	67023806	+	Missense_Mutation	SNP	A	A	G			TCGA-TM-A84F-01A-11D-A36O-08	TCGA-TM-A84F-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a349181-af96-4b55-a643-2e29432c06cc	eb1db492-2bce-4a43-b8bd-3803b6552fd9	g.chr17:67023806A>G	ENST00000340001.4	-	13	1977	c.1766T>C	c.(1765-1767)aTt>aCt	p.I589T	ABCA9_ENST00000370732.2_Missense_Mutation_p.I589T|ABCA9_ENST00000453985.2_Missense_Mutation_p.I589T	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	589	ABC transporter 1.				transport	integral to membrane	ATP binding|ATPase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					ATGTGGCAAAATCCCTTTTAT	0.353													3	62					0	0	1	0	0	G	67023806	A	G	67023806	3	3	464	1	0	0	0	0	1	0	0	0	39	101	4	3	3216	3	ABCA9	17	67023806	Missense_Mutation	SNP	A	TCGA-TM-A84F-01A-11D-A36O-08	29443749	67023806	14171404	21	36400											
EVPL	2125	broad.mit.edu	37	17	74003665	74003665	+	Missense_Mutation	SNP	C	C	T			TCGA-TM-A84F-01A-11D-A36O-08	TCGA-TM-A84F-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a349181-af96-4b55-a643-2e29432c06cc	eb1db492-2bce-4a43-b8bd-3803b6552fd9	g.chr17:74003665C>T	ENST00000301607.3	-	22	5874	c.5621G>A	c.(5620-5622)cGt>cAt	p.R1874H	EVPL_ENST00000586740.1_Missense_Mutation_p.R1896H	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	1874	Globular 2.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						GTAGCGCTCACGGCTGAGCAG	0.627													4	138					0	0	1	0	0	T	74003665	C	T	74003665	3	4	464	1	0	0	0	0	1	0	0	0	5320	536	19	1	484	1	EVPL	17	74003665	Missense_Mutation	SNP	C	TCGA-TM-A84F-01A-11D-A36O-08	6979859	74003665	7191545	22	36401											
ZNF792	126375	broad.mit.edu	37	19	35449165	35449165	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A84F-01A-11D-A36O-08	TCGA-TM-A84F-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a349181-af96-4b55-a643-2e29432c06cc	eb1db492-2bce-4a43-b8bd-3803b6552fd9	g.chr19:35449165G>A	ENST00000404801.1	-	4	1980	c.1594C>T	c.(1594-1596)Cgg>Tgg	p.R532W	ZNF792_ENST00000605484.1_Missense_Mutation_p.R465W	NM_175872.4	NP_787068.3	Q3KQV3	ZN792_HUMAN	zinc finger protein 792	532					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)	12	all_lung(56;4.18e-08)|Lung NSC(56;6.62e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			TCATAAGGCCGCTCGCCGGTG	0.517													12	25					0	0	1	0	0	A	35449165	G	A	35449165	3	1	464	1	0	0	0	0	1	0	0	0	18213	1086	38	1	308	1	ZNF792	19	35449165	Missense_Mutation	SNP	G	TCGA-TM-A84F-01A-11D-A36O-08		35449165	23679818	23	36402											
MYH7B	57644	broad.mit.edu	37	20	33586196	33586196	+	Silent	SNP	G	G	A			TCGA-TM-A84F-01A-11D-A36O-08	TCGA-TM-A84F-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a349181-af96-4b55-a643-2e29432c06cc	eb1db492-2bce-4a43-b8bd-3803b6552fd9	g.chr20:33586196G>A	ENST00000262873.7	+	31	4064	c.3972G>A	c.(3970-3972)acG>acA	p.T1324T		NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	1282						membrane|myosin filament	actin binding|ATP binding|motor activity			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			ACGCAAGCACGCAGCGTGGGC	0.647													25	58					0	0	1	0	0	A	33586196	G	A	33586196	2	1	464	1	0	0	0	0	0	0	0	1	10088	1074	38	1		1	MYH7B	20	33586196	Silent	SNP	G	TCGA-TM-A84F-01A-11D-A36O-08		33586196	29439324	24	36403											
MYT1	4661	broad.mit.edu	37	20	62854706	62854707	+	Frame_Shift_Ins	INS	-	-	C			TCGA-TM-A84F-01A-11D-A36O-08	TCGA-TM-A84F-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a349181-af96-4b55-a643-2e29432c06cc	eb1db492-2bce-4a43-b8bd-3803b6552fd9	g.chr20:62854706_62854707insC	ENST00000536311.1	+	16	2967_2968	c.2603_2604insC	c.(2602-2607)gacctcfs	p.L869fs	MYT1_ENST00000328439.1_Frame_Shift_Ins_p.L842fs|MYT1_ENST00000360149.4_Intron			Q01538	MYT1_HUMAN	myelin transcription factor 1	842					cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					CACTCTGCTGACCTCAAGTATG	0.55													61	133	---	---	---	---						C	62854707	-	C	62854706	7	5	464	1	0	1	1	0	0	0	0	0	10154	275	10	0	2576	0	MYT1	20	62854706	Frame_Shift_Ins	INS	-	TCGA-TM-A84F-01A-11D-A36O-08	29268510	62854706	170814	25	36404											
FUBP1	8880	broad.mit.edu	37	1	78428491	78428491	+	Frame_Shift_Del	DEL	T	T	-			TCGA-TM-A84G-01A-11D-A36O-08	TCGA-TM-A84G-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31f23d3a-3c7b-4db9-9048-ab061255cb7f	d2e98258-f98c-4259-bcdb-6d332a2f803e	g.chr1:78428491delT	ENST00000370767.1	-	14	1395	c.1308delA	c.(1306-1308)atafs	p.I436fs	FUBP1_ENST00000370768.2_Frame_Shift_Del_p.I436fs|FUBP1_ENST00000436586.2_Frame_Shift_Del_p.I457fs			Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1	436	KH 4.				transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						GAGCATAGTCTATCTGTTGTG	0.373			"F, N"		oligodendroglioma								45	4	---	---	---	---						-	78428491	T	-	78428491	7	5	465	1	0	1	0	1	0	0	0	0	6127	1512	53	0	654	0	FUBP1	1	78428491	Frame_Shift_Del	DEL	T	TCGA-TM-A84G-01A-11D-A36O-08		78428491	170822130	1	36405											
CELF3	11189	broad.mit.edu	37	1	151677561	151677561	+	Missense_Mutation	SNP	T	T	C			TCGA-TM-A84G-01A-11D-A36O-08	TCGA-TM-A84G-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31f23d3a-3c7b-4db9-9048-ab061255cb7f	d2e98258-f98c-4259-bcdb-6d332a2f803e	g.chr1:151677561T>C	ENST00000290583.4	-	12	2147	c.1354A>G	c.(1354-1356)Aaa>Gaa	p.K452E	CELF3_ENST00000470688.1_5'UTR|RP11-98D18.1_ENST00000457548.1_RNA|CELF3_ENST00000290585.4_Missense_Mutation_p.K402E|CELF3_ENST00000392706.3_Missense_Mutation_p.K247E	NM_001172648.1|NM_007185.4	NP_001166119.1|NP_009116.3	Q5SZQ8	CELF3_HUMAN	CUGBP, Elav-like family member 3	452	RRM 3.				nuclear mRNA splicing, via spliceosome|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	mRNA binding|nucleotide binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)	21						AGCTGGACTTTGAGGCGCTTC	0.627													22	29					0	0	1	0	0	C	151677561	T	C	151677561	3	2	465	1	0	0	0	0	1	0	0	0	3239	1821	63	3	47	3	CELF3	1	151677561	Missense_Mutation	SNP	T	TCGA-TM-A84G-01A-11D-A36O-08	73249070	151677561	97573060	2	36406											
ITSN2	50618	broad.mit.edu	37	2	24524110	24524111	+	Splice_Site	INS	-	-	A			TCGA-TM-A84G-01A-11D-A36O-08	TCGA-TM-A84G-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31f23d3a-3c7b-4db9-9048-ab061255cb7f	d2e98258-f98c-4259-bcdb-6d332a2f803e	g.chr2:24524110_24524111insA	ENST00000355123.4	-	11	1439		c.e11-2		ITSN2_ENST00000361999.3_Splice_Site|ITSN2_ENST00000406921.3_Splice_Site	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2						endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTTCCTCCTCTAAAAAAATCAA	0.366													25	44	---	---	---	---						A	24524111	-	A	24524110	8	5	465	1	0	1	1	0	0	0	1	0	7971	1536	53	0	4270	0	ITSN2	2	24524110	Splice_Site	INS	-	TCGA-TM-A84G-01A-11D-A36O-08		24524110	218675263	3	36407											
USP39	10713	broad.mit.edu	37	2	85852729	85852729	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A84G-01A-11D-A36O-08	TCGA-TM-A84G-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31f23d3a-3c7b-4db9-9048-ab061255cb7f	d2e98258-f98c-4259-bcdb-6d332a2f803e	g.chr2:85852729G>A	ENST00000323701.6	+	5	648	c.638G>A	c.(637-639)cGg>cAg	p.R213Q	USP39_ENST00000409766.3_Missense_Mutation_p.R213Q|USP39_ENST00000450066.2_Missense_Mutation_p.R110Q|USP39_ENST00000409470.1_Missense_Mutation_p.R213Q|USP39_ENST00000459775.1_3'UTR|USP39_ENST00000409025.1_Missense_Mutation_p.R213Q	NM_006590.3	NP_006581.2	Q53GS9	SNUT2_HUMAN	ubiquitin specific peptidase 39	213					spliceosome assembly|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin thiolesterase activity|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	19						AAATTGTCCCGGGCATATGAT	0.433													14	91					0	0	1	0	0	A	85852729	G	A	85852729	3	1	465	1	0	0	0	0	1	0	0	0	17130	1116	39	1	656	1	USP39	2	85852729	Missense_Mutation	SNP	G	TCGA-TM-A84G-01A-11D-A36O-08	61328619	85852729	157346644	4	36408											
IL18RAP	8807	broad.mit.edu	37	2	103063658	103063658	+	Missense_Mutation	SNP	A	A	G			TCGA-TM-A84G-01A-11D-A36O-08	TCGA-TM-A84G-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31f23d3a-3c7b-4db9-9048-ab061255cb7f	d2e98258-f98c-4259-bcdb-6d332a2f803e	g.chr2:103063658A>G	ENST00000264260.2	+	10	1790	c.1201A>G	c.(1201-1203)Acg>Gcg	p.T401A	IL18RAP_ENST00000409369.1_Missense_Mutation_p.T259A	NM_003853.2	NP_003844.1	O95256	I18RA_HUMAN	interleukin 18 receptor accessory protein	401					cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						CAAGGATCAGACGCTTGGGGG	0.557													56	90					0	0	1	0	0	G	103063658	A	G	103063658	3	3	465	1	0	0	0	0	1	0	0	0	7692	275	10	3	1231	3	IL18RAP	2	103063658	Missense_Mutation	SNP	A	TCGA-TM-A84G-01A-11D-A36O-08	17210929	103063658	140135715	5	36409											
POTEE	445582	broad.mit.edu	37	2	131984464	131984465	+	Frame_Shift_Ins	INS	-	-	A			TCGA-TM-A84G-01A-11D-A36O-08	TCGA-TM-A84G-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31f23d3a-3c7b-4db9-9048-ab061255cb7f	d2e98258-f98c-4259-bcdb-6d332a2f803e	g.chr2:131984464_131984465insA	ENST00000356920.5	+	4	973_974	c.879_880insA	c.(880-882)aaafs	p.K294fs	PLEKHB2_ENST00000303908.3_Intron|POTEE_ENST00000358087.5_Frame_Shift_Ins_p.K304fs|PLEKHB2_ENST00000404460.1_Intron	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	294							ATP binding										TTTTAATCAAGAAAAAAGCGAA	0.342													37	116	---	---	---	---						A	131984465	-	A	131984464	7	5	465	1	0	1	1	0	0	0	0	0	12311	933	33	0	893	0	POTEE	2	131984464	Frame_Shift_Ins	INS	-	TCGA-TM-A84G-01A-11D-A36O-08	28920806	131984464	111214909	6	36410											
CCDC150	284992	broad.mit.edu	37	2	197521413	197521413	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A84G-01A-11D-A36O-08	TCGA-TM-A84G-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31f23d3a-3c7b-4db9-9048-ab061255cb7f	d2e98258-f98c-4259-bcdb-6d332a2f803e	g.chr2:197521413G>A	ENST00000389175.4	+	3	368	c.233G>A	c.(232-234)aGt>aAt	p.S78N	CCDC150_ENST00000423093.2_Intron|CCDC150_ENST00000272831.7_Intron|CCDC150_ENST00000472405.2_5'UTR	NM_001080539.1	NP_001074008.1	Q8NCX0	CC150_HUMAN	coiled-coil domain containing 150	78										breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(14)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	33						AAAGTCATTAGTCCTATCCAA	0.388													14	18					0	0	1	0	0	A	197521413	G	A	197521413	3	1	465	1	0	0	0	0	1	0	0	0	2803	1029	36	2	243	2	CCDC150	2	197521413	Missense_Mutation	SNP	G	TCGA-TM-A84G-01A-11D-A36O-08	65536949	197521413	45677960	7	36411											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-TM-A84G-01A-11D-A36O-08	TCGA-TM-A84G-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31f23d3a-3c7b-4db9-9048-ab061255cb7f	d2e98258-f98c-4259-bcdb-6d332a2f803e	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	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								43	35					0	0	1	0	0	T	209113112	C	T	209113112	3	4	465	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-TM-A84G-01A-11D-A36O-08	11591699	209113112	34086261	8	36412											
PRICKLE2	166336	broad.mit.edu	37	3	64148708	64148708	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A84G-01A-11D-A36O-08	TCGA-TM-A84G-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31f23d3a-3c7b-4db9-9048-ab061255cb7f	d2e98258-f98c-4259-bcdb-6d332a2f803e	g.chr3:64148708G>A	ENST00000295902.6	-	3	827	c.242C>T	c.(241-243)cCg>cTg	p.P81L	PRICKLE2_ENST00000564377.1_Missense_Mutation_p.P137L	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN	prickle homolog 2 (Drosophila)	81	PET.					cytoplasm|nuclear membrane	zinc ion binding			breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)		GTCATGTGGCGGCAGCTGGTG	0.463													108	105					0	0	1	0	0	A	64148708	G	A	64148708	3	1	465	1	0	0	0	0	1	0	0	0	12539	1116	39	1	2316	1	PRICKLE2	3	64148708	Missense_Mutation	SNP	G	TCGA-TM-A84G-01A-11D-A36O-08		64148708	133873722	9	36413											
CENPE	1062	broad.mit.edu	37	4	104061011	104061013	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-TM-A84G-01A-11D-A36O-08	TCGA-TM-A84G-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31f23d3a-3c7b-4db9-9048-ab061255cb7f	d2e98258-f98c-4259-bcdb-6d332a2f803e	g.chr4:104061011_104061013delTCC	ENST00000265148.3	-	38	6226_6228	c.6137_6139delGGA	c.(6136-6141)aggata>ata	p.R2046del	CENPE_ENST00000380026.3_Intron	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	2046					blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		GATTCTTTTATCCTCCTTAGCTC	0.36													30	49	---	---	---	---						-	104061013	TCC	-	104061011	7	5	465	1	0	1	0	1	0	0	0	0	3252	1435	50	0	2014	0	CENPE	4	104061011	In_Frame_Del	DEL	TCC	TCGA-TM-A84G-01A-11D-A36O-08		104061011	87093265	10	36414											
EGF	1950	broad.mit.edu	37	4	110932525	110932525	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A84G-01A-11D-A36O-08	TCGA-TM-A84G-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31f23d3a-3c7b-4db9-9048-ab061255cb7f	d2e98258-f98c-4259-bcdb-6d332a2f803e	g.chr4:110932525G>A	ENST00000265171.5	+	24	3983	c.3538G>A	c.(3538-3540)Gag>Aag	p.E1180K	EGF_ENST00000509793.1_Missense_Mutation_p.E1138K|EGF_ENST00000503392.1_Missense_Mutation_p.E1139K	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN	epidermal growth factor	1180					angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity			breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sulindac(DB00605)	AGGGGGTGTCGAGAAGCCCCA	0.512													46	58					0	0	1	0	0	A	110932525	G	A	110932525	3	1	465	1	0	0	0	0	1	0	0	0	4988	1059	37	1	3632	1	EGF	4	110932525	Missense_Mutation	SNP	G	TCGA-TM-A84G-01A-11D-A36O-08	6871514	110932525	80221751	11	36415											
CDH18	1016	broad.mit.edu	37	5	19520806	19520806	+	Missense_Mutation	SNP	T	T	C			TCGA-TM-A84G-01A-11D-A36O-08	TCGA-TM-A84G-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31f23d3a-3c7b-4db9-9048-ab061255cb7f	d2e98258-f98c-4259-bcdb-6d332a2f803e	g.chr5:19520806T>C	ENST00000507958.1	-	12	2462	c.1472A>G	c.(1471-1473)gAa>gGa	p.E491G	CDH18_ENST00000274170.4_Missense_Mutation_p.E491G|CDH18_ENST00000382275.1_Missense_Mutation_p.E491G|CDH18_ENST00000502796.1_Missense_Mutation_p.E491G|CDH18_ENST00000506372.1_Missense_Mutation_p.E491G|CDH18_ENST00000511273.1_Missense_Mutation_p.E491G			Q13634	CAD18_HUMAN	cadherin 18, type 2	491	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					AATATCATATTCCCTGGCAAG	0.388													46	49					0	0	1	0	0	C	19520806	T	C	19520806	3	2	465	1	0	0	0	0	1	0	0	0	3125	1783	62	3	916	3	CDH18	5	19520806	Missense_Mutation	SNP	T	TCGA-TM-A84G-01A-11D-A36O-08		19520806	161394454	12	36416											
UHRF1BP1	54887	broad.mit.edu	37	6	34825143	34825143	+	Missense_Mutation	SNP	C	C	T			TCGA-TM-A84G-01A-11D-A36O-08	TCGA-TM-A84G-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31f23d3a-3c7b-4db9-9048-ab061255cb7f	d2e98258-f98c-4259-bcdb-6d332a2f803e	g.chr6:34825143C>T	ENST00000192788.5	+	12	1640	c.1469C>T	c.(1468-1470)aCa>aTa	p.T490I	UHRF1BP1_ENST00000452449.2_Missense_Mutation_p.T490I	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	490										breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						AAGCCATCTACACTCCTTTCC	0.438													19	75					0	0	1	0	0	T	34825143	C	T	34825143	3	4	465	1	0	0	0	0	1	0	0	0	17028	478	17	2	1515	2	UHRF1BP1	6	34825143	Missense_Mutation	SNP	C	TCGA-TM-A84G-01A-11D-A36O-08		34825143	136289924	13	36417											
TPBG	7162	broad.mit.edu	37	6	83075811	83075811	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A84G-01A-11D-A36O-08	TCGA-TM-A84G-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31f23d3a-3c7b-4db9-9048-ab061255cb7f	d2e98258-f98c-4259-bcdb-6d332a2f803e	g.chr6:83075811G>A	ENST00000369750.3	+	2	1750	c.1133G>A	c.(1132-1134)cGc>cAc	p.R378H	TPBG_ENST00000535040.1_Missense_Mutation_p.R378H|TPBG_ENST00000543496.1_Missense_Mutation_p.R378H			Q13641	TPBG_HUMAN	trophoblast glycoprotein	378					cell adhesion	integral to plasma membrane				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	15		all_cancers(76;0.000805)|Acute lymphoblastic leukemia(125;3.85e-06)|all_hematologic(105;0.0017)|all_epithelial(107;0.0897)		BRCA - Breast invasive adenocarcinoma(397;0.107)		TATTTGAACCGCAAGGGGATA	0.453													52	45					0	0	1	0	0	A	83075811	G	A	83075811	3	1	465	1	0	0	0	0	1	0	0	0	16455	1087	38	1	1135	1	TPBG	6	83075811	Missense_Mutation	SNP	G	TCGA-TM-A84G-01A-11D-A36O-08	48250668	83075811	88039256	14	36418											
GOPC	57120	broad.mit.edu	37	6	117892068	117892068	+	Silent	SNP	A	A	T			TCGA-TM-A84G-01A-11D-A36O-08	TCGA-TM-A84G-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31f23d3a-3c7b-4db9-9048-ab061255cb7f	d2e98258-f98c-4259-bcdb-6d332a2f803e	g.chr6:117892068A>T	ENST00000535237.1	-	6	1096	c.867T>A	c.(865-867)gtT>gtA	p.V289V	GOPC_ENST00000467125.1_5'UTR|GOPC_ENST00000052569.6_Silent_p.V281V|GOPC_ENST00000368498.2_Silent_p.V289V					golgi-associated PDZ and coiled-coil motif containing										GOPC/ROS1(14)	endometrium(1)|large_intestine(3)|lung(4)|ovary(1)	9		all_cancers(87;0.00844)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0363)|OV - Ovarian serous cystadenocarcinoma(136;0.0821)|all cancers(137;0.0976)		TAAGGAGGAGAACTTTTCTAA	0.343			O	ROS1	glioblastoma								11	56					0	0	1	0	0	T	117892068	A	T	117892068	2	4	465	1	0	0	0	0	0	0	0	1	6612	233	9	5		5	GOPC	6	117892068	Silent	SNP	A	TCGA-TM-A84G-01A-11D-A36O-08	34816257	117892068	53222999	15	36419											
TG	7038	broad.mit.edu	37	8	133911126	133911126	+	Missense_Mutation	SNP	A	A	G			TCGA-TM-A84G-01A-11D-A36O-08	TCGA-TM-A84G-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31f23d3a-3c7b-4db9-9048-ab061255cb7f	d2e98258-f98c-4259-bcdb-6d332a2f803e	g.chr8:133911126A>G	ENST00000220616.4	+	14	3341	c.3301A>G	c.(3301-3303)Aaa>Gaa	p.K1101E	TG_ENST00000377869.1_Missense_Mutation_p.K1101E	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1101	Thyroglobulin type-1 9.				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		CCCATCTCCAAAAGACCTGTT	0.527													8	14					0	0	1	0	0	G	133911126	A	G	133911126	3	3	465	1	0	0	0	0	1	0	0	0	15873	15	1	3	3355	3	TG	8	133911126	Missense_Mutation	SNP	A	TCGA-TM-A84G-01A-11D-A36O-08		133911126	12452896	16	36420											
NOTCH1	4851	broad.mit.edu	37	9	139401808	139401808	+	Missense_Mutation	SNP	A	A	T			TCGA-TM-A84G-01A-11D-A36O-08	TCGA-TM-A84G-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31f23d3a-3c7b-4db9-9048-ab061255cb7f	d2e98258-f98c-4259-bcdb-6d332a2f803e	g.chr9:139401808A>T	ENST00000277541.6	-	22	3667	c.3592T>A	c.(3592-3594)Tgc>Agc	p.C1198S		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1198	EGF-like 31; calcium-binding (Potential).				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		AGGTCGAGGCAGGTGCCCCCG	0.672			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			14	2					0	0	1	0	0	T	139401808	A	T	139401808	3	4	465	1	0	0	0	0	1	0	0	0	10594	188	7	5	4127	5	NOTCH1	9	139401808	Missense_Mutation	SNP	A	TCGA-TM-A84G-01A-11D-A36O-08		139401808	1811623	17	36421											
PTCHD3	374308	broad.mit.edu	37	10	27688135	27688135	+	Silent	SNP	A	A	G			TCGA-TM-A84G-01A-11D-A36O-08	TCGA-TM-A84G-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31f23d3a-3c7b-4db9-9048-ab061255cb7f	d2e98258-f98c-4259-bcdb-6d332a2f803e	g.chr10:27688135A>G	ENST00000438700.3	-	4	1509	c.1392T>C	c.(1390-1392)tcT>tcC	p.S464S		NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	464	SSD.				spermatid development	integral to membrane	hedgehog receptor activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						TATGCCAGGCAGAAATCATGA	0.368													24	42					0	0	1	0	0	G	27688135	A	G	27688135	2	3	465	1	0	0	0	0	0	0	0	1	12783	175	7	3		3	PTCHD3	10	27688135	Silent	SNP	A	TCGA-TM-A84G-01A-11D-A36O-08		27688135	107846612	18	36422											
SHANK2	22941	broad.mit.edu	37	11	70507707	70507707	+	Missense_Mutation	SNP	C	C	T			TCGA-TM-A84G-01A-11D-A36O-08	TCGA-TM-A84G-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31f23d3a-3c7b-4db9-9048-ab061255cb7f	d2e98258-f98c-4259-bcdb-6d332a2f803e	g.chr11:70507707C>T	ENST00000338508.4	-	22	1932	c.1933G>A	c.(1933-1935)Gcc>Acc	p.A645T	SHANK2_ENST00000409530.1_Missense_Mutation_p.A55T|SHANK2_ENST00000449833.2_Missense_Mutation_p.A56T|SHANK2_ENST00000423696.2_Missense_Mutation_p.A265T|SHANK2_ENST00000409161.1_Missense_Mutation_p.A55T|SHANK2_ENST00000357171.3_Missense_Mutation_p.A56T|SHANK2_ENST00000449116.2_Missense_Mutation_p.A56T			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	265					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			TTACCTTTGGCCCCTCGAAGC	0.502													4	111					0	0	1	0	0	T	70507707	C	T	70507707	3	4	465	1	0	0	0	0	1	0	0	0	14320	739	26	2	3663	2	SHANK2	11	70507707	Missense_Mutation	SNP	C	TCGA-TM-A84G-01A-11D-A36O-08		70507707	64498809	19	36423											
A2ML1	144568	broad.mit.edu	37	12	9020559	9020559	+	Missense_Mutation	SNP	C	C	T			TCGA-TM-A84G-01A-11D-A36O-08	TCGA-TM-A84G-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31f23d3a-3c7b-4db9-9048-ab061255cb7f	d2e98258-f98c-4259-bcdb-6d332a2f803e	g.chr12:9020559C>T	ENST00000299698.7	+	30	4019	c.3839C>T	c.(3838-3840)tCa>tTa	p.S1280L	A2ML1_ENST00000539547.1_Missense_Mutation_p.S789L	NM_001282424.1|NM_144670.4	NP_001269353.1|NP_653271	B3KVV6	B3KVV6_HUMAN	alpha-2-macroglobulin-like 1	1124						extracellular space	endopeptidase inhibitor activity			NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						AACATACAGTCAGTTAACAGA	0.488													33	42					0	0	1	0	0	T	9020559	C	T	9020559	3	4	465	1	0	0	0	0	1	0	0	0	5	838	29	2	3957	2	A2ML1	12	9020559	Missense_Mutation	SNP	C	TCGA-TM-A84G-01A-11D-A36O-08		9020559	124831336	20	36424											
PRICKLE1	144165	broad.mit.edu	37	12	42860025	42860025	+	Missense_Mutation	SNP	T	T	C			TCGA-TM-A84G-01A-11D-A36O-08	TCGA-TM-A84G-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31f23d3a-3c7b-4db9-9048-ab061255cb7f	d2e98258-f98c-4259-bcdb-6d332a2f803e	g.chr12:42860025T>C	ENST00000455697.1	-	6	1031	c.746A>G	c.(745-747)gAg>gGg	p.E249G	PRICKLE1_ENST00000548696.1_Missense_Mutation_p.E249G|PRICKLE1_ENST00000552240.1_Missense_Mutation_p.E249G|PRICKLE1_ENST00000345127.3_Missense_Mutation_p.E249G|PRICKLE1_ENST00000445766.2_Missense_Mutation_p.E249G	NM_001144882.1|NM_001144883.1	NP_001138354.1|NP_001138355.1	Q96MT3	PRIC1_HUMAN	prickle homolog 1 (Drosophila)	249	LIM zinc-binding 2.|LIM zinc-binding 3.				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein import into nucleus	cytosol|nuclear membrane	zinc ion binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(13)|ovary(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	47	all_cancers(12;4.25e-05)|Breast(8;0.176)			GBM - Glioblastoma multiforme(48;0.2)		TTCACAGTACTCCGCATAGAG	0.512													27	3					0	0	1	0	0	C	42860025	T	C	42860025	3	2	465	1	0	0	0	0	1	0	0	0	12538	1551	54	3	1761	3	PRICKLE1	12	42860025	Missense_Mutation	SNP	T	TCGA-TM-A84G-01A-11D-A36O-08	33839466	42860025	90991870	21	36425											
OR10AD1	121275	broad.mit.edu	37	12	48596567	48596567	+	Missense_Mutation	SNP	C	C	T			TCGA-TM-A84G-01A-11D-A36O-08	TCGA-TM-A84G-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31f23d3a-3c7b-4db9-9048-ab061255cb7f	d2e98258-f98c-4259-bcdb-6d332a2f803e	g.chr12:48596567C>T	ENST00000310248.2	-	1	603	c.509G>A	c.(508-510)cGc>cAc	p.R170H		NM_001004134.1	NP_001004134.1	Q8NGE0	O10AD_HUMAN	olfactory receptor, family 10, subfamily AD, member 1	170					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|stomach(1)|urinary_tract(1)	9						GTTGTCTCTGCGGAAGGGCTC	0.502													7	18					0	0	1	0	0	T	48596567	C	T	48596567	3	4	465	1	0	0	0	0	1	0	0	0	10944	768	27	1	448	1	OR10AD1	12	48596567	Missense_Mutation	SNP	C	TCGA-TM-A84G-01A-11D-A36O-08	5736542	48596567	85255328	22	36426											
RXFP2	122042	broad.mit.edu	37	13	32367130	32367131	+	Frame_Shift_Ins	INS	-	-	A			TCGA-TM-A84G-01A-11D-A36O-08	TCGA-TM-A84G-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31f23d3a-3c7b-4db9-9048-ab061255cb7f	d2e98258-f98c-4259-bcdb-6d332a2f803e	g.chr13:32367130_32367131insA	ENST00000298386.2	+	16	1762_1763	c.1691_1692insA	c.(1690-1695)ggaaacfs	p.N565fs	RXFP2_ENST00000380314.1_Frame_Shift_Ins_p.N541fs	NM_130806.3	NP_570718.1	Q8WXD0	RXFP2_HUMAN	relaxin/insulin-like family peptide receptor 2	565						integral to membrane|plasma membrane				cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1)	33		Lung SC(185;0.0262)		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)		GATTATTTTGGAAACTTTTATG	0.366													32	50	---	---	---	---						A	32367131	-	A	32367130	7	5	465	1	0	1	1	0	0	0	0	0	13812	1174	41	0	1753	0	RXFP2	13	32367130	Frame_Shift_Ins	INS	-	TCGA-TM-A84G-01A-11D-A36O-08		32367130	82802748	23	36427											
LRRK1	79705	broad.mit.edu	37	15	101589864	101589864	+	Silent	SNP	C	C	T			TCGA-TM-A84G-01A-11D-A36O-08	TCGA-TM-A84G-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31f23d3a-3c7b-4db9-9048-ab061255cb7f	d2e98258-f98c-4259-bcdb-6d332a2f803e	g.chr15:101589864C>T	ENST00000284395.5	+	24	3706	c.3306C>T	c.(3304-3306)gaC>gaT	p.D1102D	LRRK1_ENST00000388948.3_Silent_p.D1105D			Q38SD2	LRRK1_HUMAN	leucine-rich repeat kinase 1	1105					small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			AATCTTCCGACGTGAACTGGA	0.507													27	26					0	0	1	0	0	T	101589864	C	T	101589864	2	4	465	1	0	0	0	0	0	0	0	1	9077	535	19	1		1	LRRK1	15	101589864	Silent	SNP	C	TCGA-TM-A84G-01A-11D-A36O-08		101589864	941528	24	36428											
CACNA1H	8912	broad.mit.edu	37	16	1270872	1270872	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A84G-01A-11D-A36O-08	TCGA-TM-A84G-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31f23d3a-3c7b-4db9-9048-ab061255cb7f	d2e98258-f98c-4259-bcdb-6d332a2f803e	g.chr16:1270872G>A	ENST00000348261.5	+	35	7188	c.6940G>A	c.(6940-6942)Gtc>Atc	p.V2314I	CACNA1H_ENST00000565831.1_Missense_Mutation_p.V2308I|CACNA1H_ENST00000358590.4_Missense_Mutation_p.V2308I	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	2314					aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	TCCCATGCCCGTCGGTGACCC	0.642													38	47					0	0	1	0	0	A	1270872	G	A	1270872	3	1	465	1	0	0	0	0	1	0	0	0	2563	1145	40	1	7074	1	CACNA1H	16	1270872	Missense_Mutation	SNP	G	TCGA-TM-A84G-01A-11D-A36O-08		1270872	89083881	25	36429											
PTX4	390667	broad.mit.edu	37	16	1536429	1536429	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A84G-01A-11D-A36O-08	TCGA-TM-A84G-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31f23d3a-3c7b-4db9-9048-ab061255cb7f	d2e98258-f98c-4259-bcdb-6d332a2f803e	g.chr16:1536429G>A	ENST00000440447.2	-	3	574	c.503C>T	c.(502-504)aCg>aTg	p.T168M	PTX4_ENST00000293922.1_Silent_p.Y311Y|PTX4_ENST00000447419.2_Silent_p.Y316Y			Q96A99	PTX4_HUMAN	pentraxin 4, long	0						extracellular region	metal ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17						CCTCGGTGGCGTAGGACAGGA	0.667													33	30					0	0	1	0	0	A	1536429	G	A	1536429	3	1	465	1	0	0	0	0	1	0	0	0	12875	1140	40	1	491	1	PTX4	16	1536429	Missense_Mutation	SNP	G	TCGA-TM-A84G-01A-11D-A36O-08	265557	1536429	88818324	26	36430											
ATXN2L	11273	broad.mit.edu	37	16	28834658	28834659	+	Frame_Shift_Ins	INS	-	-	C			TCGA-TM-A84G-01A-11D-A36O-08	TCGA-TM-A84G-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31f23d3a-3c7b-4db9-9048-ab061255cb7f	d2e98258-f98c-4259-bcdb-6d332a2f803e	g.chr16:28834658_28834659insC	ENST00000336783.4	+	1	245_246	c.78_79insC	c.(79-81)cccfs	p.P27fs	ATXN2L_ENST00000325215.6_Frame_Shift_Ins_p.P27fs|ATXN2L_ENST00000382686.4_Frame_Shift_Ins_p.P27fs|ATXN2L_ENST00000395547.2_Frame_Shift_Ins_p.P27fs|ATXN2L_ENST00000564304.1_Frame_Shift_Ins_p.P27fs|ATXN2L_ENST00000570200.1_Frame_Shift_Ins_p.P27fs|ATXN2L_ENST00000340394.8_Frame_Shift_Ins_p.P27fs	NM_007245.3	NP_009176.2	Q8WWM7	ATX2L_HUMAN	ataxin 2-like	27	Pro-rich.					membrane				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						TGGCCCGTCGGCCCCCCGGGGG	0.762													2	4	---	---	---	---						C	28834659	-	C	28834658	7	5	465	1	0	1	1	0	0	0	0	0	1210	1190	42	0	80	0	ATXN2L	16	28834658	Frame_Shift_Ins	INS	-	TCGA-TM-A84G-01A-11D-A36O-08	27298229	28834658	61520095	27	36431											
IRF8	3394	broad.mit.edu	37	16	85942758	85942758	+	Missense_Mutation	SNP	G	G	T			TCGA-TM-A84G-01A-11D-A36O-08	TCGA-TM-A84G-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31f23d3a-3c7b-4db9-9048-ab061255cb7f	d2e98258-f98c-4259-bcdb-6d332a2f803e	g.chr16:85942758G>T	ENST00000268638.5	+	3	759	c.337G>T	c.(337-339)Gtt>Ttt	p.V113F	IRF8_ENST00000563180.1_Missense_Mutation_p.V113F	NM_002163.2	NP_002154.1	Q02556	IRF8_HUMAN	interferon regulatory factor 8	113					interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	nucleus	DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	24		Prostate(104;0.0771)				TTACCGAATTGTTCCTGAGGA	0.493													20	27					9.95505e-16	1.01394e-15	1	1	0	T	85942758	G	T	85942758	3	4	465	1	0	0	0	0	1	0	0	0	7880	1377	48	5	343	5	IRF8	16	85942758	Missense_Mutation	SNP	G	TCGA-TM-A84G-01A-11D-A36O-08	57108100	85942758	4411995	28	36432											
HSD11B1L	374875	broad.mit.edu	37	19	5687962	5687962	+	Frame_Shift_Del	DEL	G	G	-			TCGA-TM-A84G-01A-11D-A36O-08	TCGA-TM-A84G-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31f23d3a-3c7b-4db9-9048-ab061255cb7f	d2e98258-f98c-4259-bcdb-6d332a2f803e	g.chr19:5687962delG	ENST00000577917.1	+	6	982	c.461delG	c.(460-462)cggfs	p.R154fs	HSD11B1L_ENST00000423665.2_Frame_Shift_Del_p.R235fs|HSD11B1L_ENST00000411793.2_Frame_Shift_Del_p.R101fs|RPL36_ENST00000579649.1_Intron|HSD11B1L_ENST00000342970.2_3'UTR|RPL36_ENST00000582380.2_Intron|RPL36_ENST00000577222.1_Intron|HSD11B1L_ENST00000301382.4_3'UTR|HSD11B1L_ENST00000339423.2_3'UTR|HSD11B1L_ENST00000581773.1_3'UTR|HSD11B1L_ENST00000581521.1_3'UTR|HSD11B1L_ENST00000583928.1_3'UTR|HSD11B1L_ENST00000581893.1_3'UTR	NM_001267871.1|NM_198705.2|NM_198708.2	NP_001254800.1|NP_941994.1|NP_941997.1	Q7Z5J1	DHI1L_HUMAN	hydroxysteroid (11-beta) dehydrogenase 1-like	235						extracellular region	binding|oxidoreductase activity										CCTGAGCACCGGGGGGTGCCC	0.682													2	4	---	---	---	---						-	5687962	G	-	5687962	7	5	465	1	0	1	0	1	0	0	0	0	7417	1116	39	0	893	0	HSD11B1L	19	5687962	Frame_Shift_Del	DEL	G	TCGA-TM-A84G-01A-11D-A36O-08		5687962	53441021	29	36433											
SPTLC3	55304	broad.mit.edu	37	20	13071766	13071766	+	Missense_Mutation	SNP	G	G	T			TCGA-TM-A84G-01A-11D-A36O-08	TCGA-TM-A84G-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31f23d3a-3c7b-4db9-9048-ab061255cb7f	d2e98258-f98c-4259-bcdb-6d332a2f803e	g.chr20:13071766G>T	ENST00000399002.2	+	5	917	c.643G>T	c.(643-645)Gtg>Ttg	p.V215L	SPTLC3_ENST00000378194.4_Missense_Mutation_p.V215L	NM_018327.2	NP_060797.2	Q9NUV7	SPTC3_HUMAN	serine palmitoyltransferase, long chain base subunit 3	215					sphingoid biosynthetic process	integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups			breast(1)|endometrium(1)|large_intestine(7)|lung(14)|skin(1)|urinary_tract(1)	25					Pyridoxal Phosphate(DB00114)	GGAGGACCTTGTGGCTAAGTT	0.428													50	53					2.81731e-22	2.97984e-22	1	1	0	T	13071766	G	T	13071766	3	4	465	1	0	0	0	0	1	0	0	0	15181	1377	48	5	661	5	SPTLC3	20	13071766	Missense_Mutation	SNP	G	TCGA-TM-A84G-01A-11D-A36O-08		13071766	49953754	30	36434											
ISM1	140862	broad.mit.edu	37	20	13260457	13260457	+	Silent	SNP	C	C	T			TCGA-TM-A84G-01A-11D-A36O-08	TCGA-TM-A84G-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31f23d3a-3c7b-4db9-9048-ab061255cb7f	d2e98258-f98c-4259-bcdb-6d332a2f803e	g.chr20:13260457C>T	ENST00000262487.4	+	3	561	c.555C>T	c.(553-555)gaC>gaT	p.D185D	TASP1_ENST00000539805.1_Intron	NM_080826.1	NP_543016.1	B1AKI9	ISM1_HUMAN	isthmin 1, angiogenesis inhibitor							extracellular region				NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(8)|lung(5)|urinary_tract(1)	17						GTACCTCAGACGACAGCAACT	0.597													15	33					0	0	1	0	0	T	13260457	C	T	13260457	2	4	465	1	0	0	0	0	0	0	0	1	7904	535	19	1		1	ISM1	20	13260457	Silent	SNP	C	TCGA-TM-A84G-01A-11D-A36O-08	188691	13260457	49765063	31	36435											
ICOSLG	23308	broad.mit.edu	37	21	45651187	45651187	+	Nonsense_Mutation	SNP	G	G	A			TCGA-TM-A84G-01A-11D-A36O-08	TCGA-TM-A84G-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31f23d3a-3c7b-4db9-9048-ab061255cb7f	d2e98258-f98c-4259-bcdb-6d332a2f803e	g.chr21:45651187G>A	ENST00000407780.3	-	5	965	c.838C>T	c.(838-840)Cga>Tga	p.R280*	ICOSLG_ENST00000400377.3_Nonsense_Mutation_p.R163*|ICOSLG_ENST00000344330.4_Nonsense_Mutation_p.R280*|ICOSLG_ENST00000400379.3_Nonsense_Mutation_p.R280*	NM_001283052.1	NP_001269981.1	O75144	ICOSL_HUMAN	inducible T-cell co-stimulator ligand	280					B cell activation|defense response|hyperosmotic response|positive regulation of activated T cell proliferation|signal transduction|T cell activation|T cell costimulation		receptor binding			endometrium(2)|lung(1)|stomach(1)|urinary_tract(1)	5				Colorectal(79;0.0163)|READ - Rectum adenocarcinoma(84;0.0772)		TGGAGGCATCGGTCCCTGCAC	0.562													21	26					0	0	1	0	0	A	45651187	G	A	45651187	4	1	465	1	0	0	0	0	0	1	0	0	7531	1124	39	1	82	1	ICOSLG	21	45651187	Nonsense_Mutation	SNP	G	TCGA-TM-A84G-01A-11D-A36O-08		45651187	2478708	32	36436											
SYAP1	94056	broad.mit.edu	37	X	16773205	16773205	+	Nonsense_Mutation	SNP	T	T	A			TCGA-TM-A84G-01A-11D-A36O-08	TCGA-TM-A84G-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31f23d3a-3c7b-4db9-9048-ab061255cb7f	d2e98258-f98c-4259-bcdb-6d332a2f803e	g.chrX:16773205T>A	ENST00000380155.3	+	6	806	c.713T>A	c.(712-714)tTg>tAg	p.L238*		NM_032796.3	NP_116185.2	Q96A49	SYAP1_HUMAN	synapse associated protein 1	238										endometrium(3)|lung(4)|pancreas(1)|prostate(1)|skin(1)	10	Hepatocellular(33;0.0997)					GAGCAAGATTTGCCGCTGGCA	0.517													32	58					0	0	1	0	0	A	16773205	T	A	16773205	4	1	465	1	0	0	0	0	0	1	0	0	15482	1821	63	5	735	5	SYAP1	23	16773205	Nonsense_Mutation	SNP	T	TCGA-TM-A84G-01A-11D-A36O-08		16773205	138497355	33	36437											
MAGEB6	158809	broad.mit.edu	37	X	26212856	26212856	+	Missense_Mutation	SNP	A	A	T			TCGA-TM-A84G-01A-11D-A36O-08	TCGA-TM-A84G-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31f23d3a-3c7b-4db9-9048-ab061255cb7f	d2e98258-f98c-4259-bcdb-6d332a2f803e	g.chrX:26212856A>T	ENST00000379034.1	+	2	1042	c.893A>T	c.(892-894)aAc>aTc	p.N298I		NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	298	MAGE.									breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						ATCTTCATGAACGGCAACTGT	0.532													70	112					0	0	1	0	0	T	26212856	A	T	26212856	3	4	465	1	0	0	0	0	1	0	0	0	9229	43	2	5	895	5	MAGEB6	23	26212856	Missense_Mutation	SNP	A	TCGA-TM-A84G-01A-11D-A36O-08	9439651	26212856	129057704	34	36438											
WNK3	65267	broad.mit.edu	37	X	54275530	54275530	+	Missense_Mutation	SNP	G	G	T			TCGA-TM-A84G-01A-11D-A36O-08	TCGA-TM-A84G-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31f23d3a-3c7b-4db9-9048-ab061255cb7f	d2e98258-f98c-4259-bcdb-6d332a2f803e	g.chrX:54275530G>T	ENST00000354646.2	-	17	3689	c.3251C>A	c.(3250-3252)cCa>cAa	p.P1084Q	WNK3_ENST00000375159.2_Missense_Mutation_p.P1084Q|WNK3_ENST00000375169.3_Missense_Mutation_p.P1084Q	NM_020922.4	NP_065973.2	Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3	1084					intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation	adherens junction|tight junction	ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity			autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						AAGGGTAGTTGGTTCAAGGCC	0.433													33	39					3.80469e-20	3.94827e-20	1	1	0	T	54275530	G	T	54275530	3	4	465	1	0	0	0	0	1	0	0	0	17439	1348	47	5	2183	5	WNK3	23	54275530	Missense_Mutation	SNP	G	TCGA-TM-A84G-01A-11D-A36O-08	28062674	54275530	100995030	35	36439											
IL13RA1	3597	broad.mit.edu	37	X	117895252	117895252	+	Splice_Site	SNP	C	C	T			TCGA-TM-A84G-01A-11D-A36O-08	TCGA-TM-A84G-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31f23d3a-3c7b-4db9-9048-ab061255cb7f	d2e98258-f98c-4259-bcdb-6d332a2f803e	g.chrX:117895252C>T	ENST00000371666.3	+	6	895	c.828C>T	c.(826-828)taC>taT	p.Y276Y	IL13RA1_ENST00000371642.1_Silent_p.Y276Y|IL13RA1_ENST00000481868.1_3'UTR	NM_001560.2	NP_001551.1	P78552	I13R1_HUMAN	interleukin 13 receptor, alpha 1	276						interleukin-13 receptor complex	cytokine receptor activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(7)	12						ATGTTTTCTACGTAAGGTTTT	0.289													61	97					0	0	1	0	0	T	117895252	C	T	117895252	5	4	465	1	0	0	0	0	0	0	1	0	7673	550	19	1	850	1	IL13RA1	23	117895252	Splice_Site	SNP	C	TCGA-TM-A84G-01A-11D-A36O-08	63619722	117895252	37375308	36	36440											
MAP7D3	79649	broad.mit.edu	37	X	135312700	135312700	+	Nonsense_Mutation	SNP	G	G	A			TCGA-TM-A84G-01A-11D-A36O-08	TCGA-TM-A84G-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31f23d3a-3c7b-4db9-9048-ab061255cb7f	d2e98258-f98c-4259-bcdb-6d332a2f803e	g.chrX:135312700G>A	ENST00000316077.9	-	10	1814	c.1594C>T	c.(1594-1596)Cag>Tag	p.Q532*	MAP7D3_ENST00000370661.1_Nonsense_Mutation_p.Q497*|MAP7D3_ENST00000370663.5_Nonsense_Mutation_p.Q514*	NM_024597.3	NP_078873.2	Q8IWC1	MA7D3_HUMAN	MAP7 domain containing 3	532						cytoplasm|spindle				central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1)	44	Acute lymphoblastic leukemia(192;0.000127)					TGTGGTGACTGTTTTGAAATA	0.348													50	63					0	0	1	0	0	A	135312700	G	A	135312700	4	1	465	1	0	0	0	0	0	1	0	0	9319	1386	48	2	1072	2	MAP7D3	23	135312700	Nonsense_Mutation	SNP	G	TCGA-TM-A84G-01A-11D-A36O-08	17417448	135312700	19957860	37	36441											
PRAMEF1	65121	broad.mit.edu	37	1	12855741	12855741	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chr1:12855741G>A	ENST00000332296.7	+	4	1124	c.1021G>A	c.(1021-1023)Gga>Aga	p.G341R	PRAMEF1_ENST00000400814.3_Missense_Mutation_p.G96R	NM_023013.2	NP_075389.1	O95521	PRAM1_HUMAN	PRAME family member 1	341										cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TGAACCCCTCGGAGCTCTGCT	0.532													67	164					0	0	1	0	0	A	12855741	G	A	12855741	3	1	466	1	0	0	0	0	1	0	0	0	12474	1117	39	1	1031	1	PRAMEF1	1	12855741	Missense_Mutation	SNP	G	TCGA-TM-A84H-01A-11D-A36O-08		12855741	236394880	1	36442											
WDR63	126820	broad.mit.edu	37	1	85559315	85559315	+	Missense_Mutation	SNP	G	G	C			TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chr1:85559315G>C	ENST00000294664.6	+	9	1212	c.1032G>C	c.(1030-1032)tgG>tgC	p.W344C	WDR63_ENST00000370596.1_Missense_Mutation_p.W305C|WDR63_ENST00000326813.8_Missense_Mutation_p.W305C	NM_145172.3	NP_660155.2	Q8IWG1	WDR63_HUMAN	WD repeat domain 63	344										NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)	36				all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)		GTGTCTCATGGCATCCAACTA	0.423													8	45					0	0	1	0	0	C	85559315	G	C	85559315	3	2	466	1	0	0	0	0	1	0	0	0	17374	1212	42	5	1062	5	WDR63	1	85559315	Missense_Mutation	SNP	G	TCGA-TM-A84H-01A-11D-A36O-08	72703574	85559315	163691306	2	36443											
FLG	2312	broad.mit.edu	37	1	152281630	152281630	+	Missense_Mutation	SNP	C	C	A			TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chr1:152281630C>A	ENST00000368799.1	-	3	5767	c.5732G>T	c.(5731-5733)aGc>aTc	p.S1911I	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1911	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGGTTCCTGCTTGTCCTGGG	0.582									Ichthyosis				6	296					4.096e-09	4.36459e-09	1	1	0	A	152281630	C	A	152281630	3	1	466	1	0	0	0	0	1	0	0	0	5955	797	28	4	6457	4	FLG	1	152281630	Missense_Mutation	SNP	C	TCGA-TM-A84H-01A-11D-A36O-08	66722315	152281630	96968991	3	36444											
SELE	6401	broad.mit.edu	37	1	169698443	169698443	+	Missense_Mutation	SNP	A	A	G			TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chr1:169698443A>G	ENST00000333360.7	-	7	1113	c.974T>C	c.(973-975)tTc>tCc	p.F325S	SELE_ENST00000367780.4_Missense_Mutation_p.F263S|SELE_ENST00000367781.4_Missense_Mutation_p.F325S|SELE_ENST00000367775.1_Missense_Mutation_p.F263S|SELE_ENST00000367779.4_Missense_Mutation_p.F325S|SELE_ENST00000367777.1_Missense_Mutation_p.F325S|SELE_ENST00000367776.1_Missense_Mutation_p.F325S|SELE_ENST00000367774.1_Missense_Mutation_p.F325S|SELE_ENST00000367782.4_Missense_Mutation_p.F325S|C1orf112_ENST00000498289.1_Intron	NM_000450.2	NP_000441.2	P16581	LYAM2_HUMAN	selectin E	325	Sushi 3.				actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	all_hematologic(923;0.208)					TTTGAAGGTGAACTCTCCAGC	0.527													7	31					0	0	1	0	0	G	169698443	A	G	169698443	3	3	466	1	0	0	0	0	1	0	0	0	14067	246	9	3	886	3	SELE	1	169698443	Missense_Mutation	SNP	A	TCGA-TM-A84H-01A-11D-A36O-08	17416813	169698443	79552178	4	36445											
FMO4	2329	broad.mit.edu	37	1	171302046	171302046	+	Splice_Site	SNP	G	G	A			TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chr1:171302046G>A	ENST00000367749.3	+	7	1156	c.826G>A	c.(826-828)Ggg>Agg	p.G276R	FMO4_ENST00000462992.1_3'UTR	NM_002022.1	NP_002013.1	P31512	FMO4_HUMAN	flavin containing monooxygenase 4	276					xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_cancers(6;3.9e-08)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					TATTACCAAAGGGTACTTACA	0.254													21	19					0	0	1	0	0	A	171302046	G	A	171302046	5	1	466	1	0	0	0	0	0	0	1	0	5990	1014	35	2	844	2	FMO4	1	171302046	Splice_Site	SNP	G	TCGA-TM-A84H-01A-11D-A36O-08	1603603	171302046	77948575	5	36446											
PLEKHA6	22874	broad.mit.edu	37	1	204228468	204228468	+	Missense_Mutation	SNP	C	C	T			TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chr1:204228468C>T	ENST00000272203.3	-	8	1241	c.925G>A	c.(925-927)Gcc>Acc	p.A309T	PLEKHA6_ENST00000414478.1_Missense_Mutation_p.A329T	NM_014935.4	NP_055750.2	Q9Y2H5	PKHA6_HUMAN	pleckstrin homology domain containing, family A member 6	309	Pro-rich.									breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_cancers(21;0.0222)|Breast(84;0.179)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)			TTGCGCTGGGCAATTTTGTCA	0.647													37	61					0	0	1	0	0	T	204228468	C	T	204228468	3	4	466	1	0	0	0	0	1	0	0	0	12108	710	25	2	2281	2	PLEKHA6	1	204228468	Missense_Mutation	SNP	C	TCGA-TM-A84H-01A-11D-A36O-08	32926422	204228468	45022153	6	36447											
IKBKE	9641	broad.mit.edu	37	1	206653790	206653790	+	Splice_Site	SNP	G	G	A			TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chr1:206653790G>A	ENST00000367120.3	+	13	1714	c.1341G>A	c.(1339-1341)atG>atA	p.M447I	IKBKE_ENST00000537984.1_Splice_Site_p.M362I	NM_001193322.1|NM_014002.3	NP_001180251.1|NP_054721.1	Q14164	IKKE_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase epsilon	447	Leucine-zipper.				DNA damage response, signal transduction resulting in induction of apoptosis|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane|PML body	ATP binding|IkappaB kinase activity|NF-kappaB-inducing kinase activity|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|skin(2)	32	Breast(84;0.137)					CCTTGGACAGGGAGGTGCTCC	0.622													8	12					0	0	1	0	0	A	206653790	G	A	206653790	5	1	466	1	0	0	0	0	0	0	1	0	7656	1246	43	2	1383	2	IKBKE	1	206653790	Splice_Site	SNP	G	TCGA-TM-A84H-01A-11D-A36O-08	2425322	206653790	42596831	7	36448											
ABI2	10152	broad.mit.edu	37	2	204281776	204281776	+	Silent	SNP	G	G	A			TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chr2:204281776G>A	ENST00000295851.5	+	10	1634	c.1338G>A	c.(1336-1338)ccG>ccA	p.P446P	ABI2_ENST00000261018.7_Silent_p.P232P|ABI2_ENST00000261017.5_Silent_p.P408P|RAPH1_ENST00000457812.1_Intron|ABI2_ENST00000261016.6_Silent_p.P334P|ABI2_ENST00000424558.1_Silent_p.P440P|ABI2_ENST00000430418.1_Silent_p.P391P|ABI2_ENST00000422511.2_Silent_p.P413P	NM_001282925.1|NM_001282926.1	NP_001269854.1|NP_001269855.1	Q9NYB9	ABI2_HUMAN	abl-interactor 2						actin polymerization or depolymerization|cell migration|peptidyl-tyrosine phosphorylation	cytoskeleton|cytosol|filopodium|lamellipodium	cytoskeletal adaptor activity|DNA binding|kinase binding|proline-rich region binding|SH3 domain binding|ubiquitin protein ligase binding			breast(1)|kidney(3)|large_intestine(1)|liver(2)|lung(4)|prostate(2)|skin(1)|urinary_tract(1)	15						AGGACCCACCGTGGGCTCCAC	0.468													3	63					0	0	1	0	0	A	204281776	G	A	204281776	2	1	466	1	0	0	0	0	0	0	0	1	89	1132	40	1		1	ABI2	2	204281776	Silent	SNP	G	TCGA-TM-A84H-01A-11D-A36O-08		204281776	38917597	8	36449											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	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	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								27	45					0	0	1	0	0	T	209113112	C	T	209113112	3	4	466	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-TM-A84H-01A-11D-A36O-08	4831336	209113112	34086261	9	36450											
CCDC108	255101	broad.mit.edu	37	2	219894928	219894928	+	Silent	SNP	T	T	C			TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chr2:219894928T>C	ENST00000341552.5	-	10	1247	c.1164A>G	c.(1162-1164)gtA>gtG	p.V388V	CCDC108_ENST00000441968.1_Silent_p.V388V|CCDC108_ENST00000410037.1_Silent_p.V323V|CCDC108_ENST00000453220.1_Silent_p.V388V|CCDC108_ENST00000409865.3_Silent_p.V377V	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	388						integral to membrane	structural molecule activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGGGGGCATTTACCTGTGTGG	0.567											OREG0015211	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	25	63					0	0	1	0	0	C	219894928	T	C	219894928	2	2	466	1	0	0	0	0	0	0	0	1	2761	1741	61	3		3	CCDC108	2	219894928	Silent	SNP	T	TCGA-TM-A84H-01A-11D-A36O-08	10781816	219894928	23304445	10	36451											
NGEF	25791	broad.mit.edu	37	2	233756167	233756167	+	Missense_Mutation	SNP	G	G	C	rs148012306		TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chr2:233756167G>C	ENST00000264051.3	-	8	1451	c.1173C>G	c.(1171-1173)atC>atG	p.I391M	NGEF_ENST00000539537.1_Missense_Mutation_p.I114M|NGEF_ENST00000373552.4_Missense_Mutation_p.I299M	NM_019850.2	NP_062824.2	Q8N5V2	NGEF_HUMAN	neuronal guanine nucleotide exchange factor	391	DH.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|growth cone|plasma membrane	Rho guanyl-nucleotide exchange factor activity			central_nervous_system(4)|endometrium(8)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|skin(4)	35		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604)		CTAGCTGCGCGATCAGCTCCC	0.612													20	23					0	0	1	0	0	C	233756167	G	C	233756167	3	2	466	1	0	0	0	0	1	0	0	0	10441	1048	37	5	991	5	NGEF	2	233756167	Missense_Mutation	SNP	G	TCGA-TM-A84H-01A-11D-A36O-08	13861239	233756167	9443206	11	36452											
CIDEC	63924	broad.mit.edu	37	3	9911660	9911660	+	Missense_Mutation	SNP	C	C	G			TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chr3:9911660C>G	ENST00000336832.2	-	5	599	c.460G>C	c.(460-462)Gac>Cac	p.D154H	CIDEC_ENST00000443115.1_Intron|CIDEC_ENST00000430427.1_Missense_Mutation_p.D164H|CIDEC_ENST00000455015.1_Missense_Mutation_p.D80H|CIDEC_ENST00000423850.1_Missense_Mutation_p.D80H|CIDEC_ENST00000383817.1_Intron	NM_001199552.1|NM_001199623.1|NM_022094.3	NP_001186481.1|NP_001186552.1|NP_071377.2	Q96AQ7	CIDEC_HUMAN	cell death-inducing DFFA-like effector c	154					apoptosis|induction of apoptosis	cytosol|focal adhesion|nucleus				breast(2)|central_nervous_system(1)|endometrium(1)|lung(2)|ovary(1)|skin(1)	8	Medulloblastoma(99;0.227)					CCAATGAAGTCCTGTGGGTTC	0.512													34	49					0	0	1	0	0	G	9911660	C	G	9911660	3	3	466	1	0	0	0	0	1	0	0	0	3449	855	30	5	264	5	CIDEC	3	9911660	Missense_Mutation	SNP	C	TCGA-TM-A84H-01A-11D-A36O-08		9911660	188110770	12	36453											
GUCY1A3	2982	broad.mit.edu	37	4	156632083	156632083	+	Missense_Mutation	SNP	T	T	C			TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chr4:156632083T>C	ENST00000296518.7	+	6	975	c.766T>C	c.(766-768)Tcc>Ccc	p.S256P	GUCY1A3_ENST00000511108.1_Missense_Mutation_p.S256P|GUCY1A3_ENST00000393832.3_5'UTR|GUCY1A3_ENST00000513574.1_Missense_Mutation_p.S256P|GUCY1A3_ENST00000506455.1_Missense_Mutation_p.S256P|GUCY1A3_ENST00000511507.1_Missense_Mutation_p.S256P|GUCY1A3_ENST00000455639.2_Missense_Mutation_p.S256P			Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3	256					blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		CTTGTTGTACTCCGTTCACAT	0.483													4	69					0	0	1	0	0	C	156632083	T	C	156632083	3	2	466	1	0	0	0	0	1	0	0	0	6935	1551	54	3	780	3	GUCY1A3	4	156632083	Missense_Mutation	SNP	T	TCGA-TM-A84H-01A-11D-A36O-08		156632083	34522193	13	36454											
CMYA5	202333	broad.mit.edu	37	5	79034604	79034604	+	Missense_Mutation	SNP	C	C	T			TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chr5:79034604C>T	ENST00000446378.2	+	2	10047	c.10016C>T	c.(10015-10017)gCg>gTg	p.A3339V		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	3339						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		ATAAGTTATGCGGTTCCATTT	0.483													20	30					0	0	1	0	0	T	79034604	C	T	79034604	3	4	466	1	0	0	0	0	1	0	0	0	3613	768	27	1	10022	1	CMYA5	5	79034604	Missense_Mutation	SNP	C	TCGA-TM-A84H-01A-11D-A36O-08		79034604	101880656	14	36455											
C5orf20	140947	broad.mit.edu	37	5	134782426	134782426	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chr5:134782426G>A	ENST00000503143.2	-	1	612	c.373C>T	c.(373-375)Cgg>Tgg	p.R125W	TIFAB_ENST00000537858.1_3'UTR	NM_130848.2	NP_570900.1	Q8TF63	DCNP1_HUMAN	chromosome 5 open reading frame 20	125						nucleus				endometrium(1)|lung(1)|prostate(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GCTCCCTCCCGCCTGGTCTGG	0.552													54	91					0	0	1	0	0	A	134782426	G	A	134782426	3	1	466	1	0	0	0	0	1	0	0	0	2299	1086	38	1	365	1	C5orf20	5	134782426	Missense_Mutation	SNP	G	TCGA-TM-A84H-01A-11D-A36O-08	55747822	134782426	46132834	15	36456											
SPINK5	11005	broad.mit.edu	37	5	147466068	147466068	+	Missense_Mutation	SNP	A	A	G			TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chr5:147466068A>G	ENST00000359874.3	+	5	456	c.383A>G	c.(382-384)aAc>aGc	p.N128S	SPINK5_ENST00000398454.1_Missense_Mutation_p.N128S|SPINK5_ENST00000256084.7_Missense_Mutation_p.N128S	NM_001127698.1	NP_001121170.1	Q9NQ38	ISK5_HUMAN	serine peptidase inhibitor, Kazal type 5	128	Kazal-like 2.				anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation	cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm	serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACATATGACAACAGATGTGCA	0.378													3	86					0	0	1	0	0	G	147466068	A	G	147466068	3	3	466	1	0	0	0	0	1	0	0	0	15118	43	2	3	401	3	SPINK5	5	147466068	Missense_Mutation	SNP	A	TCGA-TM-A84H-01A-11D-A36O-08	12683642	147466068	33449192	16	36457											
MCM9	254394	broad.mit.edu	37	6	119238864	119238864	+	Missense_Mutation	SNP	G	G	A	rs142688993	byFrequency	TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chr6:119238864G>A	ENST00000316316.6	-	5	1052	c.766C>T	c.(766-768)Cgc>Tgc	p.R256C	MCM9_ENST00000316068.3_Missense_Mutation_p.R256C	NM_017696.2	NP_060166.2	Q9NXL9	MCM9_HUMAN	minichromosome maintenance complex component 9	256					DNA replication		ATP binding|DNA binding|nucleoside-triphosphatase activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		all_cancers(87;0.122)|all_epithelial(87;0.179)		GBM - Glioblastoma multiforme(226;0.0676)|OV - Ovarian serous cystadenocarcinoma(136;0.194)		ACTTCACAGCGCACATCTTGC	0.453													35	95					0	0	1	0	0	A	119238864	G	A	119238864	3	1	466	1	0	0	0	0	1	0	0	0	9444	1087	38	1	421	1	MCM9	6	119238864	Missense_Mutation	SNP	G	TCGA-TM-A84H-01A-11D-A36O-08		119238864	51876203	17	36458											
MACC1	346389	broad.mit.edu	37	7	20198631	20198635	+	Frame_Shift_Del	DEL	TTCTC	TTCTC	-			TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chr7:20198631_20198635delTTCTC	ENST00000400331.5	-	5	1657_1661	c.1349_1353delGAGAA	c.(1348-1353)ggagaafs	p.GE450fs	MACC1_ENST00000332878.4_Frame_Shift_Del_p.GE450fs|MACC1_ENST00000589011.1_Frame_Shift_Del_p.GE450fs	NM_182762.3	NP_877439.3	Q6ZN28	MACC1_HUMAN	metastasis associated in colon cancer 1	450					positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	growth factor activity			endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1)	39						TTTCTTTCCTTTCTCCTTCTGTCTT	0.346													38	26	---	---	---	---						-	20198635	TTCTC	-	20198631	7	5	466	1	0	1	0	1	0	0	0	0	9189	1838	64	0	1217	0	MACC1	7	20198631	Frame_Shift_Del	DEL	TTCTC	TCGA-TM-A84H-01A-11D-A36O-08		20198631	138940032	18	36459											
VPS41	27072	broad.mit.edu	37	7	38805189	38805189	+	Silent	SNP	T	T	C			TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chr7:38805189T>C	ENST00000310301.4	-	16	1374	c.1320A>G	c.(1318-1320)ggA>ggG	p.G440G	VPS41_ENST00000395969.2_Silent_p.G415G	NM_014396.3	NP_055211.2	P49754	VPS41_HUMAN	vacuolar protein sorting 41 homolog (S. cerevisiae)	440					Golgi vesicle transport|intracellular protein transport|vesicle-mediated transport	cytosol|Golgi-associated vesicle|HOPS complex|membrane fraction	zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	44						CCTTAAGCTGTCCAATTTCTT	0.338													9	58					0	0	1	0	0	C	38805189	T	C	38805189	2	2	466	1	0	0	0	0	0	0	0	1	17270	1654	58	3		3	VPS41	7	38805189	Silent	SNP	T	TCGA-TM-A84H-01A-11D-A36O-08	18606558	38805189	120333474	19	36460											
CSMD3	114788	broad.mit.edu	37	8	113988234	113988234	+	Missense_Mutation	SNP	C	C	T			TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chr8:113988234C>T	ENST00000297405.5	-	7	1418	c.1174G>A	c.(1174-1176)Gag>Aag	p.E392K	CSMD3_ENST00000455883.2_Intron|CSMD3_ENST00000352409.3_Missense_Mutation_p.E392K|CSMD3_ENST00000343508.3_Missense_Mutation_p.E352K	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	392						integral to membrane|plasma membrane		p.E392K(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CGCTGTTCCTCGGAAAGTCTA	0.502										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			131	62					0	0	1	0	0	T	113988234	C	T	113988234	3	4	466	1	0	0	0	0	1	0	0	0	3971	893	31	1	10209	1	CSMD3	8	113988234	Missense_Mutation	SNP	C	TCGA-TM-A84H-01A-11D-A36O-08		113988234	32375788	20	36461											
PFKP	5214	broad.mit.edu	37	10	3175464	3175464	+	Silent	SNP	C	C	T	rs35828349	byFrequency	TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chr10:3175464C>T	ENST00000381075.2	+	21	2180	c.1956C>T	c.(1954-1956)ggC>ggT	p.G652G	PFKP_ENST00000381072.1_Silent_p.G78G|PFKP_ENST00000381125.4_Silent_p.G660G	NM_001242339.1	NP_001229268.1	Q01813	K6PP_HUMAN	phosphofructokinase, platelet	660					glycolysis	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|metal ion binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(1;0.000975)|all cancers(11;0.00351)|Epithelial(11;0.142)		AGGGCAAAGGCGTGTTTGACT	0.493													44	145					0	0	1	0	0	T	3175464	C	T	3175464	2	4	466	1	0	0	0	0	0	0	0	1	11814	755	27	1		1	PFKP	10	3175464	Silent	SNP	C	TCGA-TM-A84H-01A-11D-A36O-08		3175464	132359283	21	36462											
CUL2	8453	broad.mit.edu	37	10	35322128	35322128	+	Missense_Mutation	SNP	T	T	G			TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chr10:35322128T>G	ENST00000374748.1	-	12	1389	c.1076A>C	c.(1075-1077)aAt>aCt	p.N359T	CUL2_ENST00000374746.1_Missense_Mutation_p.N359T|CUL2_ENST00000374751.3_Missense_Mutation_p.N359T|CUL2_ENST00000537177.1_Missense_Mutation_p.N378T|CUL2_ENST00000602371.1_Missense_Mutation_p.N302T|CUL2_ENST00000374742.1_Missense_Mutation_p.N359T|CUL2_ENST00000374749.3_Missense_Mutation_p.N359T			Q13617	CUL2_HUMAN	cullin 2	359					cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex	ubiquitin protein ligase binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|prostate(2)|skin(1)|urinary_tract(2)	31						CTGATCACCATTCAAAACAGT	0.308													25	75					0	0	1	0	0	G	35322128	T	G	35322128	3	3	466	1	0	0	0	0	1	0	0	0	4078	1493	52	4	1205	4	CUL2	10	35322128	Missense_Mutation	SNP	T	TCGA-TM-A84H-01A-11D-A36O-08	32146664	35322128	100212619	22	36463											
CDH23	64072	broad.mit.edu	37	10	73567468	73567468	+	Missense_Mutation	SNP	T	T	C			TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chr10:73567468T>C	ENST00000224721.6	+	58	8524	c.8519T>C	c.(8518-8520)gTg>gCg	p.V2840A	CDH23_ENST00000398788.3_Missense_Mutation_p.V595A|CDH23_ENST00000475158.1_3'UTR	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	2835	Cadherin 26.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						GTGCGCGTTGTGCTAGAGGAC	0.637													6	11					0	0	1	0	0	C	73567468	T	C	73567468	3	2	466	1	0	0	0	0	1	0	0	0	3130	1696	59	3	9079	3	CDH23	10	73567468	Missense_Mutation	SNP	T	TCGA-TM-A84H-01A-11D-A36O-08	38245340	73567468	61967279	23	36464											
MKI67	4288	broad.mit.edu	37	10	129904148	129904148	+	Missense_Mutation	SNP	G	G	C			TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chr10:129904148G>C	ENST00000368654.3	-	13	6331	c.5956C>G	c.(5956-5958)Cca>Gca	p.P1986A	MKI67_ENST00000368653.3_Missense_Mutation_p.P1626A	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1986	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				ACTGGGTCTGGTTGTGGAGAT	0.488													9	246					0	0	1	0	0	C	129904148	G	C	129904148	3	2	466	1	0	0	0	0	1	0	0	0	9646	1261	44	5	3826	5	MKI67	10	129904148	Missense_Mutation	SNP	G	TCGA-TM-A84H-01A-11D-A36O-08	56336680	129904148	5630599	24	36465											
MUC5B	727897	broad.mit.edu	37	11	1269642	1269642	+	Silent	SNP	C	C	A			TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chr11:1269642C>A	ENST00000447027.1	+	31	11599	c.11541C>A	c.(11539-11541)acC>acA	p.T3847T	MUC5B_ENST00000529681.1_Silent_p.T3844T|RP11-532E4.2_ENST00000532061.2_RNA			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3844	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CCACCACAACCAGGGCCACCG	0.632													4	195					2.56e-06	2.68387e-06	1	1	0	A	1269642	C	A	1269642	2	1	466	1	0	0	0	0	0	0	0	1	10027	581	21	5		5	MUC5B	11	1269642	Silent	SNP	C	TCGA-TM-A84H-01A-11D-A36O-08		1269642	133736874	25	36466											
OR52E4	390081	broad.mit.edu	37	11	5906365	5906365	+	Silent	SNP	T	T	C			TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chr11:5906365T>C	ENST00000316987.2	+	1	865	c.843T>C	c.(841-843)taT>taC	p.Y281Y		NM_001005165.1	NP_001005165.1	Q8NGH9	O52E4_HUMAN	olfactory receptor, family 52, subfamily E, member 4	281					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(2)|prostate(1)|skin(2)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTAACCTGTATGTGGTTGTCC	0.388													69	87					0	0	1	0	0	C	5906365	T	C	5906365	2	2	466	1	0	0	0	0	0	0	0	1	11164	1471	51	3		3	OR52E4	11	5906365	Silent	SNP	T	TCGA-TM-A84H-01A-11D-A36O-08	4636723	5906365	129100151	26	36467											
WNK1	65125	broad.mit.edu	37	12	992630	992630	+	Missense_Mutation	SNP	A	A	G			TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chr12:992630A>G	ENST00000537687.1	+	16	4982	c.4339A>G	c.(4339-4341)Aaa>Gaa	p.K1447E	WNK1_ENST00000315939.6_Missense_Mutation_p.K1187E|WNK1_ENST00000530271.2_Missense_Mutation_p.K1685E|WNK1_ENST00000340908.4_Missense_Mutation_p.K780E|WNK1_ENST00000535572.1_Missense_Mutation_p.K940E	NM_001184985.1|NM_213655.4	NP_001171914.1|NP_998820.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	1187					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			AATTATTGAAAAAGCTGATGA	0.403													4	69					0	0	1	0	0	G	992630	A	G	992630	3	3	466	1	0	0	0	0	1	0	0	0	17437	15	1	3	5123	3	WNK1	12	992630	Missense_Mutation	SNP	A	TCGA-TM-A84H-01A-11D-A36O-08		992630	132859265	27	36468											
KRT82	3888	broad.mit.edu	37	12	52793851	52793851	+	Missense_Mutation	SNP	C	C	T			TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chr12:52793851C>T	ENST00000257974.2	-	5	937	c.860G>A	c.(859-861)gGc>gAc	p.G287D	RP3-416H24.4_ENST00000547174.1_RNA	NM_033033.3	NP_149022.3	Q9NSB4	KRT82_HUMAN	keratin 82	287	Coil 2.|Rod.					keratin filament	protein binding|structural constituent of epidermis			endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	29				BRCA - Breast invasive adenocarcinoma(357;0.193)		AGCGATGATGCCGTCCACGTC	0.617													3	52					0	0	1	0	0	T	52793851	C	T	52793851	3	4	466	1	0	0	0	0	1	0	0	0	8539	739	26	2	701	2	KRT82	12	52793851	Missense_Mutation	SNP	C	TCGA-TM-A84H-01A-11D-A36O-08	51801221	52793851	81058044	28	36469											
FZD10	11211	broad.mit.edu	37	12	130649165	130649165	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chr12:130649165G>A	ENST00000229030.4	+	1	2162	c.1678G>A	c.(1678-1680)Gcc>Acc	p.A560T	FZD10_ENST00000539839.1_3'UTR			Q9ULW2	FZD10_HUMAN	frizzled family receptor 10	560					brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development	cell projection|cell surface|cytoplasm|integral to plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1)	35	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)		TTACAAAAAAGCCCAGCATCC	0.592													7	17					0	0	1	0	0	A	130649165	G	A	130649165	3	1	466	1	0	0	0	0	1	0	0	0	6164	971	34	2	1680	2	FZD10	12	130649165	Missense_Mutation	SNP	G	TCGA-TM-A84H-01A-11D-A36O-08	77855314	130649165	3202730	29	36470											
TPTE2	93492	broad.mit.edu	37	13	20056686	20056686	+	Splice_Site	SNP	T	T	C			TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chr13:20056686T>C	ENST00000400230.2	-	4	165	c.121A>G	c.(121-123)Atg>Gtg	p.M41V	TPTE2_ENST00000400103.2_Splice_Site_p.M41V|TPTE2_ENST00000390680.2_Intron|TPTE2_ENST00000457266.2_Splice_Site_p.M41V|TPTE2_ENST00000382975.4_Splice_Site_p.M41V|TPTE2_ENST00000255310.6_Intron|TPTE2_ENST00000382977.4_Splice_Site_p.M41V|TPTE2_ENST00000382978.1_Splice_Site_p.M41V			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	41						endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		CGTTCTAACATACTTTAGCCA	0.313													4	51					0	0	1	0	0	C	20056686	T	C	20056686	5	2	466	1	0	0	0	0	0	0	1	0	16492	1420	49	3	1515	3	TPTE2	13	20056686	Splice_Site	SNP	T	TCGA-TM-A84H-01A-11D-A36O-08		20056686	95113192	30	36471											
GAS6	2621	broad.mit.edu	37	13	114531573	114531573	+	Missense_Mutation	SNP	G	G	C	rs149411733		TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chr13:114531573G>C	ENST00000357389.3	-	11	1536	c.1384C>G	c.(1384-1386)Ctg>Gtg	p.L462V	GAS6-AS1_ENST00000458001.1_RNA|GAS6_ENST00000327773.6_Missense_Mutation_p.L419V|GAS6_ENST00000355761.4_Missense_Mutation_p.L365V|GAS6_ENST00000418959.3_Missense_Mutation_p.L120V|GAS6_ENST00000450766.1_Missense_Mutation_p.L146V			Q14393	GAS6_HUMAN	growth arrest-specific 6	462	Laminin G-like 1.				cell proliferation|leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|post-translational protein modification|proteolysis|regulation of growth	endoplasmic reticulum lumen|extracellular space|Golgi lumen|platelet alpha granule lumen	calcium ion binding|receptor agonist activity			central_nervous_system(4)|ovary(1)	5	Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0176)|all_epithelial(44;0.0104)|all_lung(25;0.0249)|Lung NSC(25;0.0908)|Breast(118;0.188)				GTCAGGTTCAGATGATACAGT	0.577													22	51					0	0	1	0	0	C	114531573	G	C	114531573	3	2	466	1	0	0	0	0	1	0	0	0	6289	933	33	4	801	4	GAS6	13	114531573	Missense_Mutation	SNP	G	TCGA-TM-A84H-01A-11D-A36O-08	94474887	114531573	638305	31	36472											
ZFYVE1	53349	broad.mit.edu	37	14	73464558	73464558	+	Missense_Mutation	SNP	T	T	C			TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chr14:73464558T>C	ENST00000556143.1	-	3	1669	c.949A>G	c.(949-951)Atc>Gtc	p.I317V	ZFYVE1_ENST00000553891.1_Missense_Mutation_p.I317V|ZFYVE1_ENST00000318876.5_Missense_Mutation_p.I317V	NM_001281735.1|NM_021260.2	NP_001268664.1|NP_067083.1	Q9HBF4	ZFYV1_HUMAN	zinc finger, FYVE domain containing 1	317						endoplasmic reticulum|Golgi stack|perinuclear region of cytoplasm	1-phosphatidylinositol binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(17)|ovary(1)|prostate(2)|skin(1)	35		all_lung(585;1.33e-09)		OV - Ovarian serous cystadenocarcinoma(108;1.6e-46)|BRCA - Breast invasive adenocarcinoma(234;0.00349)		TCATGGAAGATGATAACTGCA	0.537													14	21					0	0	1	0	0	C	73464558	T	C	73464558	3	2	466	1	0	0	0	0	1	0	0	0	17721	1464	51	3	1424	3	ZFYVE1	14	73464558	Missense_Mutation	SNP	T	TCGA-TM-A84H-01A-11D-A36O-08		73464558	33884982	32	36473											
OTUB2	78990	broad.mit.edu	37	14	94503790	94503790	+	Missense_Mutation	SNP	C	C	T			TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chr14:94503790C>T	ENST00000203664.5	+	2	277	c.68C>T	c.(67-69)cCt>cTt	p.P23L	OTUB2_ENST00000553723.1_Missense_Mutation_p.P23L	NM_023112.3	NP_075601.1	Q96DC9	OTUB2_HUMAN	OTU domain, ubiquitin aldehyde binding 2	23					cellular amino acid metabolic process|protein K48-linked deubiquitination|protein K63-linked deubiquitination		omega peptidase activity|protein binding|ubiquitin-specific protease activity			kidney(1)|large_intestine(1)|lung(2)|ovary(1)	5		all_cancers(154;0.12)		Epithelial(152;0.124)|all cancers(159;0.21)|COAD - Colon adenocarcinoma(157;0.215)		CGGGACCATCCTGAAAACAGG	0.438											OREG0022890	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	37	36					0	0	1	0	0	T	94503790	C	T	94503790	3	4	466	1	0	0	0	0	1	0	0	0	11359	681	24	2	74	2	OTUB2	14	94503790	Missense_Mutation	SNP	C	TCGA-TM-A84H-01A-11D-A36O-08	21039232	94503790	12845750	33	36474											
TP53	7157	broad.mit.edu	37	17	7578418	7578418	+	Frame_Shift_Del	DEL	T	T	-	rs66983534		TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chr17:7578418delT	ENST00000420246.2	-	5	644	c.512delA	c.(511-513)gagfs	p.E171fs	TP53_ENST00000574684.1_5'UTR|TP53_ENST00000269305.4_Frame_Shift_Del_p.E171fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.E171fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.E171fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.E171fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.E171fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	171	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		E -> A (in a sporadic cancer; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> Q (in a sporadic cancer; somatic mutation).|E -> V (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.0?(8)|p.E171fs*2(3)|p.E171G(3)|p.E171V(2)|p.V157_C176del20(1)|p.T170fs*2(1)|p.H168fs*69(1)|p.E171fs*1(1)|p.T170fs*8(1)|p.P151_V173del23(1)|p.E78fs*2(1)|p.E171_V172delEV(1)|p.E171_H179delEVVRRCPHH(1)|p.E171fs*61(1)|p.S149fs*72(1)|p.E39fs*2(1)|p.E171A(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)		CCTCACAACCTCCGTCATGTG	0.662		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)			78	8	---	---	---	---						-	7578418	T	-	7578418	7	5	466	1	0	1	0	1	0	0	0	0	16442	1551	54	0	786	0	TP53	17	7578418	Frame_Shift_Del	DEL	T	TCGA-TM-A84H-01A-11D-A36O-08		7578418	73616792	34	36475											
RAI1	10743	broad.mit.edu	37	17	17698028	17698028	+	Missense_Mutation	SNP	C	C	T			TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chr17:17698028C>T	ENST00000353383.1	+	3	2235	c.1766C>T	c.(1765-1767)gCg>gTg	p.A589V	RAI1_ENST00000261641.6_Missense_Mutation_p.A589V	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	589						cytoplasm|nucleus	zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		AAGTTCGTGGCGGGTGAGCGG	0.632													19	58					0	0	1	0	0	T	17698028	C	T	17698028	3	4	466	1	0	0	0	0	1	0	0	0	13059	768	27	1	1768	1	RAI1	17	17698028	Missense_Mutation	SNP	C	TCGA-TM-A84H-01A-11D-A36O-08	10119610	17698028	63497182	35	36476											
DNAH17	8632	broad.mit.edu	37	17	76464785	76464785	+	Nonsense_Mutation	SNP	G	G	A			TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chr17:76464785G>A	ENST00000389840.5	-	55	8774	c.8650C>T	c.(8650-8652)Cga>Tga	p.R2884*	DNAH17_ENST00000585328.1_Nonsense_Mutation_p.R2893*|DNAH17_ENST00000586052.1_5'UTR					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			ACTTGGGGTCGCATGGAGGAG	0.542													17	70					0	0	1	0	0	A	76464785	G	A	76464785	4	1	466	1	0	0	0	0	0	1	0	0	4629	1095	38	1	4804	1	DNAH17	17	76464785	Nonsense_Mutation	SNP	G	TCGA-TM-A84H-01A-11D-A36O-08	58766757	76464785	4730425	36	36477											
DSG2	1829	broad.mit.edu	37	18	29126227	29126227	+	Missense_Mutation	SNP	A	A	T			TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chr18:29126227A>T	ENST00000261590.8	+	15	3087	c.2878A>T	c.(2878-2880)Agc>Tgc	p.S960C	RP11-75N4.2_ENST00000583706.1_RNA	NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	desmoglein 2	960					cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			CCAGCCACAGAGCCTTATTGT	0.473													18	29					0	0	1	0	0	T	29126227	A	T	29126227	3	4	466	1	0	0	0	0	1	0	0	0	4803	304	11	5	2936	5	DSG2	18	29126227	Missense_Mutation	SNP	A	TCGA-TM-A84H-01A-11D-A36O-08		29126227	48951021	37	36478											
UHRF1	29128	broad.mit.edu	37	19	4929125	4929125	+	RNA	DEL	C	C	-	rs66904189		TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chr19:4929125delC	ENST00000592666.1	+	0	729							Q96T88	UHRF1_HUMAN	ubiquitin-like with PHD and ring finger domains 1						cell cycle|cell proliferation|DNA repair|regulation of transcription from RNA polymerase II promoter	nucleus	acid-amino acid ligase activity|methyl-CpG binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|upper_aerodigestive_tract(2)	16				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0276)		ATGCAGATTGCCCCCCCCCCA	0.607													6	10	---	---	---	---						-	4929125	C	-	4929125	6	5	466	0	1	1	0	1	0	0	0	0	17027	754	26	0		0	UHRF1	19	4929125	RNA	DEL	C	TCGA-TM-A84H-01A-11D-A36O-08		4929125	54199858	38	36479											
MUC16	94025	broad.mit.edu	37	19	9069138	9069138	+	Missense_Mutation	SNP	T	T	G			TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chr19:9069138T>G	ENST00000397910.4	-	3	18511	c.18308A>C	c.(18307-18309)gAt>gCt	p.D6103A		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6105	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGTAGCAGCATCCAGGGACAC	0.498													3	24					0	0	1	0	0	G	9069138	T	G	9069138	3	3	466	1	0	0	0	0	1	0	0	0	10021	1435	50	4	25543	4	MUC16	19	9069138	Missense_Mutation	SNP	T	TCGA-TM-A84H-01A-11D-A36O-08	4140013	9069138	50059845	39	36480											
MUC16	94025	broad.mit.edu	37	19	9073357	9073357	+	Missense_Mutation	SNP	C	C	G			TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chr19:9073357C>G	ENST00000397910.4	-	3	14292	c.14089G>C	c.(14089-14091)Gac>Cac	p.D4697H		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4699	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.D4697Y(2)|p.D330Y(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTTGATGTGTCTAAGGCAAGT	0.473													6	109					0	0	1	0	0	G	9073357	C	G	9073357	3	3	466	1	0	0	0	0	1	0	0	0	10021	913	32	4	29762	4	MUC16	19	9073357	Missense_Mutation	SNP	C	TCGA-TM-A84H-01A-11D-A36O-08	4219	9073357	50055626	40	36481											
SMARCA4	6597	broad.mit.edu	37	19	11138480	11138480	+	Missense_Mutation	SNP	C	C	T			TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chr19:11138480C>T	ENST00000358026.2	+	24	3520	c.3236C>T	c.(3235-3237)tCg>tTg	p.S1079L	SMARCA4_ENST00000429416.3_Missense_Mutation_p.S1079L|SMARCA4_ENST00000413806.3_Missense_Mutation_p.S1079L|SMARCA4_ENST00000344626.4_Missense_Mutation_p.S1079L|SMARCA4_ENST00000450717.3_Missense_Mutation_p.S1079L|SMARCA4_ENST00000589677.1_Missense_Mutation_p.S1079L|SMARCA4_ENST00000590574.1_Missense_Mutation_p.S1079L|SMARCA4_ENST00000444061.3_Missense_Mutation_p.S1079L|SMARCA4_ENST00000541122.2_Missense_Mutation_p.S1079L	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	1079					chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(2)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				TACCGAGCCTCGGGTAAATTT	0.532			"F, N, Mis"		NSCLC								60	59					0	0	1	0	0	T	11138480	C	T	11138480	3	4	466	1	0	0	0	0	1	0	0	0	14824	893	31	1	3326	1	SMARCA4	19	11138480	Missense_Mutation	SNP	C	TCGA-TM-A84H-01A-11D-A36O-08	2065123	11138480	47990503	41	36482											
ZNF99	7652	broad.mit.edu	37	19	22941413	22941413	+	Missense_Mutation	SNP	G	G	T			TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chr19:22941413G>T	ENST00000397104.3	-	5	1024	c.1025C>A	c.(1024-1026)gCt>gAt	p.A342D	ZNF99_ENST00000596209.1_Missense_Mutation_p.A433D					zinc finger protein 99											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				ACGCTTAAAAGCTTTGCCACA	0.363													30	34					4.74835e-14	5.14405e-14	1	1	0	T	22941413	G	T	22941413	3	4	466	1	0	0	0	0	1	0	0	0	18246	971	34	4	2099	4	ZNF99	19	22941413	Missense_Mutation	SNP	G	TCGA-TM-A84H-01A-11D-A36O-08	11802933	22941413	36187570	42	36483											
ZNF175	7728	broad.mit.edu	37	19	52091455	52091455	+	Missense_Mutation	SNP	T	T	C			TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chr19:52091455T>C	ENST00000262259.2	+	5	2229	c.1871T>C	c.(1870-1872)tTt>tCt	p.F624S	ZNF175_ENST00000436511.2_Intron	NM_007147.2	NP_009078.1	Q9Y473	ZN175_HUMAN	zinc finger protein 175	624					response to virus	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000426)|OV - Ovarian serous cystadenocarcinoma(262;0.0257)		GGGAAGGCTTTTGTCCAGAAA	0.423													24	86					0	0	1	0	0	C	52091455	T	C	52091455	3	2	466	1	0	0	0	0	1	0	0	0	17803	1841	64	3	1885	3	ZNF175	19	52091455	Missense_Mutation	SNP	T	TCGA-TM-A84H-01A-11D-A36O-08	29150042	52091455	7037528	43	36484											
NFATC2	4773	broad.mit.edu	37	20	50158922	50158922	+	Missense_Mutation	SNP	C	C	G			TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chr20:50158922C>G	ENST00000371564.3	-	1	336	c.117G>C	c.(115-117)ttG>ttC	p.L39F	NFATC2_ENST00000609943.1_Intron|NFATC2_ENST00000396009.3_Missense_Mutation_p.L39F|NFATC2_ENST00000610033.1_5'UTR|NFATC2_ENST00000414705.1_Intron|NFATC2_ENST00000609507.1_Intron	NM_001258296.1|NM_012340.4	NP_001245225.1|NP_036472.2	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2	39					B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity		EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					CGTTCGGATTCAAATACTCAT	0.672													13	43					0	0	1	0	0	G	50158922	C	G	50158922	3	3	466	1	0	0	0	0	1	0	0	0	10409	825	29	5	2748	5	NFATC2	20	50158922	Missense_Mutation	SNP	C	TCGA-TM-A84H-01A-11D-A36O-08		50158922	12866598	44	36485											
MYT1	4661	broad.mit.edu	37	20	62839165	62839168	+	Frame_Shift_Del	DEL	GCCA	GCCA	-			TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chr20:62839165_62839168delGCCA	ENST00000536311.1	+	7	980_983	c.616_619delGCCA	c.(616-621)gccagcfs	p.AS206fs	MYT1_ENST00000360149.4_Intron|MYT1_ENST00000328439.1_Frame_Shift_Del_p.AS206fs			Q01538	MYT1_HUMAN	myelin transcription factor 1	206	Glu-rich.				cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					AGAGGGAGCTGCCAGCGAGGAGGG	0.623													13	72	---	---	---	---						-	62839168	GCCA	-	62839165	7	5	466	1	0	1	0	1	0	0	0	0	10154	1319	46	0	634	0	MYT1	20	62839165	Frame_Shift_Del	DEL	GCCA	TCGA-TM-A84H-01A-11D-A36O-08	12680243	62839165	186355	45	36486											
MYT1	4661	broad.mit.edu	37	20	62839435	62839440	+	In_Frame_Del	DEL	GAGGAA	GAGGAA	-	rs143133195	byFrequency	TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chr20:62839435_62839440delGAGGAA	ENST00000536311.1	+	7	1250_1255	c.886_891delGAGGAA	c.(886-891)gaggaadel	p.EE304del	MYT1_ENST00000360149.4_Intron|MYT1_ENST00000328439.1_In_Frame_Del_p.EE304del			Q01538	MYT1_HUMAN	myelin transcription factor 1	304	Glu-rich.				cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					ggaagaggaggaggaagaggaagagg	0.587													16	61	---	---	---	---						-	62839440	GAGGAA	-	62839435	7	5	466	1	0	1	0	1	0	0	0	0	10154	1175	41	0	904	0	MYT1	20	62839435	In_Frame_Del	DEL	GAGGAA	TCGA-TM-A84H-01A-11D-A36O-08	270	62839435	186085	46	36487											
PCMTD2	55251	broad.mit.edu	37	20	62896749	62896749	+	Frame_Shift_Del	DEL	G	G	-			TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chr20:62896749delG	ENST00000308824.6	+	4	676	c.549delG	c.(547-549)gtgfs	p.V183fs	PCMTD2_ENST00000369758.4_Frame_Shift_Del_p.V183fs|PCMTD2_ENST00000609372.1_Intron|PCMTD2_ENST00000299468.7_Frame_Shift_Del_p.V183fs	NM_018257.2	NP_060727.2	Q9NV79	PCMD2_HUMAN	protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 2	183						cytoplasm	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(9)|upper_aerodigestive_tract(1)	17	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					TTCTCAAAGTGGGAGGGATCC	0.488													21	93	---	---	---	---						-	62896749	G	-	62896749	7	5	466	1	0	1	0	1	0	0	0	0	11634	1335	47	0	559	0	PCMTD2	20	62896749	Frame_Shift_Del	DEL	G	TCGA-TM-A84H-01A-11D-A36O-08	57314	62896749	128771	47	36488											
ZFX	7543	broad.mit.edu	37	X	24197760	24197760	+	Silent	SNP	C	C	T			TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chrX:24197760C>T	ENST00000379177.1	+	6	946	c.519C>T	c.(517-519)acC>acT	p.T173T	ZFX_ENST00000379188.3_Silent_p.T173T|ZFX_ENST00000540034.1_Silent_p.T212T|ZFX_ENST00000539115.1_Intron|ZFX_ENST00000338565.3_Silent_p.T173T|ZFX_ENST00000304543.5_Silent_p.T173T|ZFX_ENST00000459724.1_Intron	NM_001178085.1|NM_003410.3	NP_001171556.1|NP_003401.2	P17010	ZFX_HUMAN	zinc finger protein, X-linked	173					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|prostate(1)	24						CTCTGACTACCGACGTAGTTT	0.463													7	96					0	0	1	0	0	T	24197760	C	T	24197760	2	4	466	1	0	0	0	0	0	0	0	1	17719	639	23	1		1	ZFX	23	24197760	Silent	SNP	C	TCGA-TM-A84H-01A-11D-A36O-08		24197760	131072800	48	36489											
DMD	1756	broad.mit.edu	37	X	32459327	32459327	+	Silent	SNP	G	G	A			TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chrX:32459327G>A	ENST00000357033.4	-	28	4097	c.3891C>T	c.(3889-3891)ggC>ggT	p.G1297G	DMD_ENST00000378677.2_Silent_p.G1293G	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	1297					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	p.G1297G(1)|p.G1292G(1)|p.G1293G(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				CCTCAGCTCCGCCAGGAATGT	0.353													31	15					0	0	1	0	0	A	32459327	G	A	32459327	2	1	466	1	0	0	0	0	0	0	0	1	4608	1074	38	1		1	DMD	23	32459327	Silent	SNP	G	TCGA-TM-A84H-01A-11D-A36O-08	8261567	32459327	122811233	49	36490											
ACRC	93953	broad.mit.edu	37	X	70824520	70824520	+	Missense_Mutation	SNP	A	A	G			TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chrX:70824520A>G	ENST00000373695.1	+	7	1930	c.1393A>G	c.(1393-1395)Aca>Gca	p.T465A	ACRC_ENST00000373696.3_Missense_Mutation_p.T465A			Q96QF7	ACRC_HUMAN	acidic repeat containing	465	Arg/Lys/Pro-rich.					nucleus				autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1)	54	Renal(35;0.156)					TGTATCTGTGACACCTGGTAA	0.473													8	13					0	0	1	0	0	G	70824520	A	G	70824520	3	3	466	1	0	0	0	0	1	0	0	0	171	275	10	3	1419	3	ACRC	23	70824520	Missense_Mutation	SNP	A	TCGA-TM-A84H-01A-11D-A36O-08	38365193	70824520	84446040	50	36491											
BHLHB9	80823	broad.mit.edu	37	X	102004758	102004758	+	Missense_Mutation	SNP	C	C	T			TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chrX:102004758C>T	ENST00000372735.1	+	4	1420	c.835C>T	c.(835-837)Cct>Tct	p.P279S	BHLHB9_ENST00000361229.4_Missense_Mutation_p.P279S|BHLHB9_ENST00000448867.1_Missense_Mutation_p.P279S|BHLHB9_ENST00000457056.1_Missense_Mutation_p.P279S|BHLHB9_ENST00000447531.1_Missense_Mutation_p.P279S			Q6PI77	BHLH9_HUMAN	basic helix-loop-helix domain containing, class B, 9	279						cytoplasm|nucleus	binding			cervix(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						ACAGCCTATCCCTGAGTGTCG	0.483													54	63					0	0	1	0	0	T	102004758	C	T	102004758	3	4	466	1	0	0	0	0	1	0	0	0	1419	623	22	2	837	2	BHLHB9	23	102004758	Missense_Mutation	SNP	C	TCGA-TM-A84H-01A-11D-A36O-08	31180238	102004758	53265802	51	36492											
DCAF12L2	340578	broad.mit.edu	37	X	125299816	125299816	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chrX:125299816G>A	ENST00000538699.1	-	2	172	c.92C>T	c.(91-93)gCg>gTg	p.A31V	DCAF12L2_ENST00000360028.2_Missense_Mutation_p.A31V	NM_001013628.2	NP_001013650.1	Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	31										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						CTCTCCGTCCGCCGCCGCTAA	0.701													14	22					0	0	1	0	0	A	125299816	G	A	125299816	3	1	466	1	0	0	0	0	1	0	0	0	4289	1087	38	1	1303	1	DCAF12L2	23	125299816	Missense_Mutation	SNP	G	TCGA-TM-A84H-01A-11D-A36O-08	23295058	125299816	29970744	52	36493											
F8	2157	broad.mit.edu	37	X	154157391	154157391	+	Missense_Mutation	SNP	G	G	C			TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chrX:154157391G>C	ENST00000360256.4	-	14	4874	c.4674C>G	c.(4672-4674)aaC>aaG	p.N1558K		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	1558	B.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	TTCCAGGTCTGTTTGCTTCAT	0.493													37	154					0	0	1	0	0	C	154157391	G	C	154157391	3	2	466	1	0	0	0	0	1	0	0	0	5378	1368	48	5	2461	5	F8	23	154157391	Missense_Mutation	SNP	G	TCGA-TM-A84H-01A-11D-A36O-08	28857575	154157391	1113169	53	36494											
SAMD11	148398	broad.mit.edu	37	1	879504	879505	+	Frame_Shift_Ins	INS	-	-	C			TCGA-TM-A84I-01A-11D-A36O-08	TCGA-TM-A84I-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7095e40-74eb-4208-bc64-b2e977c95224	3f955092-ccb9-4616-b97b-d03c9d818f3c	g.chr1:879504_879505insC	ENST00000342066.3	+	14	2100_2101	c.2017_2018insC	c.(2017-2019)gccfs	p.A673fs		NM_152486.2	NP_689699	Q96NU1	SAM11_HUMAN	sterile alpha motif domain containing 11	673						nucleus				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.74e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000472)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)		ACTTCCAGGGGCCCCCGACCCT	0.653													11	113	---	---	---	---						C	879505	-	C	879504	7	5	467	1	0	1	1	0	0	0	0	0	13868	1203	42	0	2067	0	SAMD11	1	879504	Frame_Shift_Ins	INS	-	TCGA-TM-A84I-01A-11D-A36O-08		879504	248371117	1	36495											
SEC22B	9554	broad.mit.edu	37	1	145109293	145109294	+	RNA	INS	-	-	A	rs7364468		TCGA-TM-A84I-01A-11D-A36O-08	TCGA-TM-A84I-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7095e40-74eb-4208-bc64-b2e977c95224	3f955092-ccb9-4616-b97b-d03c9d818f3c	g.chr1:145109293_145109294insA	ENST00000453618.1	+	0	512							O75396	SC22B_HUMAN	SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)						ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome	protein binding										caaaaaaaaagaaaaaaaaaaa	0.431													2	4	---	---	---	---						A	145109294	-	A	145109293	6	5	467	0	1	1	1	0	0	0	0	0	14043	957	33	0		0	SEC22B	1	145109293	RNA	INS	-	TCGA-TM-A84I-01A-11D-A36O-08	144229789	145109293	104141328	2	36496											
S100A7A	338324	broad.mit.edu	37	1	153391722	153391726	+	Frame_Shift_Del	DEL	CATAG	CATAG	-	rs112079848		TCGA-TM-A84I-01A-11D-A36O-08	TCGA-TM-A84I-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7095e40-74eb-4208-bc64-b2e977c95224	3f955092-ccb9-4616-b97b-d03c9d818f3c	g.chr1:153391722_153391726delCATAG	ENST00000368729.4	+	3	300_304	c.243_247delCATAG	c.(241-249)gacatagccfs	p.IA82fs	S100A7A_ENST00000368728.2_Frame_Shift_Del_p.IA82fs|S100A7A_ENST00000329256.2_Frame_Shift_Del_p.IA82fs	NM_176823.3	NP_789793.1	Q86SG5	S1A7A_HUMAN	S100 calcium binding protein A7A	82	EF-hand 2.					cytoplasm	calcium ion binding			cervix(1)|endometrium(3)|kidney(1)|lung(3)|prostate(1)|skin(2)|stomach(1)	12	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			TGCTGGGAGACATAGCCGCAGACTA	0.517													20	40	---	---	---	---						-	153391726	CATAG	-	153391722	7	5	467	1	0	1	0	1	0	0	0	0	13836	477	17	0	249	0	S100A7A	1	153391722	Frame_Shift_Del	DEL	CATAG	TCGA-TM-A84I-01A-11D-A36O-08	8282429	153391722	95858899	3	36497											
DPT	1805	broad.mit.edu	37	1	168698267	168698267	+	Missense_Mutation	SNP	T	T	C			TCGA-TM-A84I-01A-11D-A36O-08	TCGA-TM-A84I-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7095e40-74eb-4208-bc64-b2e977c95224	3f955092-ccb9-4616-b97b-d03c9d818f3c	g.chr1:168698267T>C	ENST00000367817.3	-	1	235	c.146A>G	c.(145-147)cAg>cGg	p.Q49R		NM_001937.4	NP_001928.2	Q07507	DERM_HUMAN	dermatopontin	49	2 X 53-55 AA tandem repeats.				cell adhesion	extracellular space|proteinaceous extracellular matrix				kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)	12	all_hematologic(923;0.208)					CTGGGGACACTGGTAGCTGAA	0.552													5	71					0	0	1	0	0	C	168698267	T	C	168698267	3	2	467	1	0	0	0	0	1	0	0	0	4765	1580	55	3	475	3	DPT	1	168698267	Missense_Mutation	SNP	T	TCGA-TM-A84I-01A-11D-A36O-08	15306545	168698267	80552354	4	36498											
ACOXL	55289	broad.mit.edu	37	2	111559245	111559245	+	Missense_Mutation	SNP	C	C	A			TCGA-TM-A84I-01A-11D-A36O-08	TCGA-TM-A84I-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7095e40-74eb-4208-bc64-b2e977c95224	3f955092-ccb9-4616-b97b-d03c9d818f3c	g.chr2:111559245C>A	ENST00000389811.4	+	8	788	c.564C>A	c.(562-564)gaC>gaA	p.D188E	ACOXL_ENST00000439055.1_Missense_Mutation_p.D188E|ACOXL_ENST00000340561.4_Missense_Mutation_p.D188E			Q9NUZ1	ACOXL_HUMAN	acyl-CoA oxidase-like	188					fatty acid beta-oxidation	peroxisome	acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity			kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(1)	21						ATGGTGTGGACAATGGGATAT	0.453													15	53					1.3612e-06	1.53135e-06	1	1	0	A	111559245	C	A	111559245	3	1	467	1	0	0	0	0	1	0	0	0	161	477	17	5	590	5	ACOXL	2	111559245	Missense_Mutation	SNP	C	TCGA-TM-A84I-01A-11D-A36O-08		111559245	131640128	5	36499											
DPP4	1803	broad.mit.edu	37	2	162903987	162903987	+	Missense_Mutation	SNP	C	C	T			TCGA-TM-A84I-01A-11D-A36O-08	TCGA-TM-A84I-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7095e40-74eb-4208-bc64-b2e977c95224	3f955092-ccb9-4616-b97b-d03c9d818f3c	g.chr2:162903987C>T	ENST00000360534.3	-	3	679	c.119G>A	c.(118-120)cGc>cAc	p.R40H		NM_001935.3	NP_001926.2	P27487	DPP4_HUMAN	dipeptidyl-peptidase 4	40					cell adhesion|endothelial cell migration|negative regulation of extracellular matrix disassembly|positive regulation of cell proliferation|proteolysis|regulation of cell-cell adhesion mediated by integrin|response to hypoxia|T cell activation|T cell costimulation	apical plasma membrane|cell surface|endocytic vesicle|extracellular region|integral to membrane|invadopodium membrane|lamellipodium membrane|membrane raft	aminopeptidase activity|dipeptidyl-peptidase activity|protease binding|protein homodimerization activity|receptor activity|receptor binding|serine-type endopeptidase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	48					Sitagliptin(DB01261)	GTAAGTTTTGCGACTGTCAGC	0.343													3	36					0	0	1	0	0	T	162903987	C	T	162903987	3	4	467	1	0	0	0	0	1	0	0	0	4755	768	27	1	2277	1	DPP4	2	162903987	Missense_Mutation	SNP	C	TCGA-TM-A84I-01A-11D-A36O-08	51344742	162903987	80295386	6	36500											
LRP2	4036	broad.mit.edu	37	2	170101387	170101387	+	Silent	SNP	T	T	C			TCGA-TM-A84I-01A-11D-A36O-08	TCGA-TM-A84I-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7095e40-74eb-4208-bc64-b2e977c95224	3f955092-ccb9-4616-b97b-d03c9d818f3c	g.chr2:170101387T>C	ENST00000263816.3	-	22	3531	c.3246A>G	c.(3244-3246)gcA>gcG	p.A1082A	LRP2_ENST00000443831.1_Silent_p.A945A	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	1082	LDL-receptor class A 9.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	AGCGCCAGTGTGCAGGAATGC	0.507													5	73					0	0	1	0	0	C	170101387	T	C	170101387	2	2	467	1	0	0	0	0	0	0	0	1	9001	1683	59	3		3	LRP2	2	170101387	Silent	SNP	T	TCGA-TM-A84I-01A-11D-A36O-08	7197400	170101387	73097986	7	36501											
LRP2	4036	broad.mit.edu	37	2	170127551	170127551	+	Missense_Mutation	SNP	G	G	T			TCGA-TM-A84I-01A-11D-A36O-08	TCGA-TM-A84I-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7095e40-74eb-4208-bc64-b2e977c95224	3f955092-ccb9-4616-b97b-d03c9d818f3c	g.chr2:170127551G>T	ENST00000263816.3	-	16	2468	c.2183C>A	c.(2182-2184)aCc>aAc	p.T728N	LRP2_ENST00000443831.1_Intron	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	728					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	ATCTTCCTGGGTAGACAAGGT	0.438													7	27					5.18039e-06	5.709e-06	1	1	0	T	170127551	G	T	170127551	3	4	467	1	0	0	0	0	1	0	0	0	9001	1261	44	5	12040	5	LRP2	2	170127551	Missense_Mutation	SNP	G	TCGA-TM-A84I-01A-11D-A36O-08	26164	170127551	73071822	8	36502											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-TM-A84I-01A-11D-A36O-08	TCGA-TM-A84I-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7095e40-74eb-4208-bc64-b2e977c95224	3f955092-ccb9-4616-b97b-d03c9d818f3c	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								33	34					0	0	1	0	0	T	209113112	C	T	209113112	3	4	467	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-TM-A84I-01A-11D-A36O-08	38985561	209113112	34086261	9	36503											
THUMPD3	25917	broad.mit.edu	37	3	9412772	9412772	+	Missense_Mutation	SNP	T	T	C			TCGA-TM-A84I-01A-11D-A36O-08	TCGA-TM-A84I-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7095e40-74eb-4208-bc64-b2e977c95224	3f955092-ccb9-4616-b97b-d03c9d818f3c	g.chr3:9412772T>C	ENST00000345094.3	+	4	693	c.359T>C	c.(358-360)tTg>tCg	p.L120S	SETD5-AS1_ENST00000468186.1_RNA|THUMPD3_ENST00000515662.2_Missense_Mutation_p.L120S|THUMPD3_ENST00000452837.2_Missense_Mutation_p.L120S	NM_001114092.1|NM_015453.2	NP_001107564.1|NP_056268.2	Q9BV44	THUM3_HUMAN	THUMP domain containing 3	120							methyltransferase activity|protein binding|RNA binding			NS(1)|central_nervous_system(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	19	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.101)		TTTGAAGACTTGGCTGGAAAA	0.333													28	89					0	0	1	0	0	C	9412772	T	C	9412772	3	2	467	1	0	0	0	0	1	0	0	0	15944	1821	63	3	369	3	THUMPD3	3	9412772	Missense_Mutation	SNP	T	TCGA-TM-A84I-01A-11D-A36O-08		9412772	188609658	10	36504											
OTOP1	133060	broad.mit.edu	37	4	4199680	4199680	+	Missense_Mutation	SNP	C	C	T			TCGA-TM-A84I-01A-11D-A36O-08	TCGA-TM-A84I-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7095e40-74eb-4208-bc64-b2e977c95224	3f955092-ccb9-4616-b97b-d03c9d818f3c	g.chr4:4199680C>T	ENST00000296358.4	-	5	905	c.881G>A	c.(880-882)cGc>cAc	p.R294H		NM_177998.1	NP_819056.1	Q7RTM1	OTOP1_HUMAN	otopetrin 1	294					biomineral tissue development	extracellular space|integral to membrane				NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		GTCAACTTTGCGCCCGATGTT	0.562													6	49					0	0	1	0	0	T	4199680	C	T	4199680	3	4	467	1	0	0	0	0	1	0	0	0	11352	768	27	1	965	1	OTOP1	4	4199680	Missense_Mutation	SNP	C	TCGA-TM-A84I-01A-11D-A36O-08		4199680	186954596	11	36505											
RASSF6	166824	broad.mit.edu	37	4	74442136	74442136	+	Missense_Mutation	SNP	A	A	G			TCGA-TM-A84I-01A-11D-A36O-08	TCGA-TM-A84I-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7095e40-74eb-4208-bc64-b2e977c95224	3f955092-ccb9-4616-b97b-d03c9d818f3c	g.chr4:74442136A>G	ENST00000307439.5	-	10	1223	c.929T>C	c.(928-930)aTa>aCa	p.I310T	RASSF6_ENST00000395777.2_Missense_Mutation_p.I276T|RASSF6_ENST00000335049.5_Missense_Mutation_p.I298T|RASSF6_ENST00000342081.3_Missense_Mutation_p.I342T	NM_001270391.1|NM_177532.4	NP_001257320.1|NP_803876.1	Q6ZTQ3	RASF6_HUMAN	Ras association (RalGDS/AF-6) domain family member 6	342					apoptosis|signal transduction		protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|pancreas(2)|skin(2)	17	Breast(15;0.00102)		all cancers(17;0.00104)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)			CTTTGTTACTATTCTTTGAAT	0.328													3	56					0	0	1	0	0	G	74442136	A	G	74442136	3	3	467	1	0	0	0	0	1	0	0	0	13142	449	16	3	92	3	RASSF6	4	74442136	Missense_Mutation	SNP	A	TCGA-TM-A84I-01A-11D-A36O-08	70242456	74442136	116712140	12	36506											
ZDHHC11	79844	broad.mit.edu	37	5	843744	843744	+	Missense_Mutation	SNP	C	C	A			TCGA-TM-A84I-01A-11D-A36O-08	TCGA-TM-A84I-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7095e40-74eb-4208-bc64-b2e977c95224	3f955092-ccb9-4616-b97b-d03c9d818f3c	g.chr5:843744C>A	ENST00000283441.8	-	4	982	c.599G>T	c.(598-600)gGg>gTg	p.G200V	ZDHHC11_ENST00000511539.1_5'UTR|ZDHHC11_ENST00000424784.2_Missense_Mutation_p.G200V	NM_024786.2	NP_079062.1	Q9H8X9	ZDH11_HUMAN	zinc finger, DHHC-type containing 11	200						integral to membrane	acyltransferase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(10)|pancreas(1)|prostate(5)|skin(2)|urinary_tract(1)	21			Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863)			GCGGAGCACCCCGGGGTTCAC	0.637													3	16					0.150653	0.150653	1	1	0	A	843744	C	A	843744	3	1	467	1	0	0	0	0	1	0	0	0	17659	623	22	5	675	5	ZDHHC11	5	843744	Missense_Mutation	SNP	C	TCGA-TM-A84I-01A-11D-A36O-08		843744	180071516	13	36507											
SH3TC2	79628	broad.mit.edu	37	5	148407349	148407349	+	Missense_Mutation	SNP	T	T	C			TCGA-TM-A84I-01A-11D-A36O-08	TCGA-TM-A84I-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7095e40-74eb-4208-bc64-b2e977c95224	3f955092-ccb9-4616-b97b-d03c9d818f3c	g.chr5:148407349T>C	ENST00000538184.1	-	7	1475	c.587A>G	c.(586-588)cAc>cGc	p.H196R	SH3TC2_ENST00000515425.1_Missense_Mutation_p.H649R|SH3TC2_ENST00000512049.1_Missense_Mutation_p.H642R|SH3TC2_ENST00000394358.2_Missense_Mutation_p.H534R			Q8TF17	S3TC2_HUMAN	SH3 domain and tetratricopeptide repeats 2	649							binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACCTCCTCGTGCCGGCCTAG	0.642													19	10					0	0	1	0	0	C	148407349	T	C	148407349	3	2	467	1	0	0	0	0	1	0	0	0	14317	1696	59	3	1948	3	SH3TC2	5	148407349	Missense_Mutation	SNP	T	TCGA-TM-A84I-01A-11D-A36O-08	147563605	148407349	32507911	14	36508											
NUP153	9972	broad.mit.edu	37	6	17675524	17675524	+	Missense_Mutation	SNP	T	T	C			TCGA-TM-A84I-01A-11D-A36O-08	TCGA-TM-A84I-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7095e40-74eb-4208-bc64-b2e977c95224	3f955092-ccb9-4616-b97b-d03c9d818f3c	g.chr6:17675524T>C	ENST00000262077.2	-	4	658	c.659A>G	c.(658-660)cAg>cGg	p.Q220R	NUP153_ENST00000537253.1_Missense_Mutation_p.Q220R	NM_005124.2	NP_005115.2	P49790	NU153_HUMAN	nucleoporin 153kDa	220					carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm	DNA binding|protein binding|transporter activity|zinc ion binding			NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)			GGCAGTGTGCTGTGAGAGTGA	0.418													30	32					0	0	1	0	0	C	17675524	T	C	17675524	3	2	467	1	0	0	0	0	1	0	0	0	10803	1580	55	3	3844	3	NUP153	6	17675524	Missense_Mutation	SNP	T	TCGA-TM-A84I-01A-11D-A36O-08		17675524	153439543	15	36509											
HIST1H2AL	8332	broad.mit.edu	37	6	27833185	27833185	+	Missense_Mutation	SNP	G	G	C			TCGA-TM-A84I-01A-11D-A36O-08	TCGA-TM-A84I-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7095e40-74eb-4208-bc64-b2e977c95224	3f955092-ccb9-4616-b97b-d03c9d818f3c	g.chr6:27833185G>C	ENST00000357320.2	+	1	152	c.53G>C	c.(52-54)cGc>cCc	p.R18P		NM_003511.2	NP_003502.1	P0C0S8	H2A1_HUMAN	histone cluster 1, H2al	18					nucleosome assembly	nucleosome|nucleus	DNA binding|enzyme binding			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|urinary_tract(2)	9						GCCAAGACCCGCTCTTCTCGT	0.632													54	57					0	0	1	0	0	C	27833185	G	C	27833185	3	2	467	1	0	0	0	0	1	0	0	0	7179	1087	38	5	55	5	HIST1H2AL	6	27833185	Missense_Mutation	SNP	G	TCGA-TM-A84I-01A-11D-A36O-08	10157661	27833185	143281882	16	36510											
TNXB	7148	broad.mit.edu	37	6	32036883	32036883	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A84I-01A-11D-A36O-08	TCGA-TM-A84I-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7095e40-74eb-4208-bc64-b2e977c95224	3f955092-ccb9-4616-b97b-d03c9d818f3c	g.chr6:32036883G>A	ENST00000375244.3	-	16	5819	c.5618C>T	c.(5617-5619)aCg>aTg	p.T1873M	TNXB_ENST00000375247.2_Missense_Mutation_p.T1873M			P22105	TENX_HUMAN	tenascin XB	1955	Fibronectin type-III 11.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GGTCGGGGCCGTGGTCTCAGT	0.622													10	43					0	0	1	0	0	A	32036883	G	A	32036883	3	1	467	1	0	0	0	0	1	0	0	0	16406	1145	40	1	9211	1	TNXB	6	32036883	Missense_Mutation	SNP	G	TCGA-TM-A84I-01A-11D-A36O-08	4203698	32036883	139078184	17	36511											
SGCE	8910	broad.mit.edu	37	7	94259039	94259039	+	Missense_Mutation	SNP	G	G	C			TCGA-TM-A84I-01A-11D-A36O-08	TCGA-TM-A84I-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7095e40-74eb-4208-bc64-b2e977c95224	3f955092-ccb9-4616-b97b-d03c9d818f3c	g.chr7:94259039G>C	ENST00000415788.2	-	3	419	c.332C>G	c.(331-333)cCa>cGa	p.P111R	SGCE_ENST00000445866.2_Missense_Mutation_p.P75R|SGCE_ENST00000447873.1_Missense_Mutation_p.P75R|SGCE_ENST00000437425.2_Intron|SGCE_ENST00000265735.7_Missense_Mutation_p.P75R|SGCE_ENST00000428696.2_Missense_Mutation_p.P75R			O43556	SGCE_HUMAN	sarcoglycan, epsilon	75					cell-matrix adhesion|muscle organ development	cytoplasm|cytoskeleton|integral to plasma membrane|sarcoglycan complex|sarcolemma	calcium ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|skin(1)	14	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			ACCAGGTTTTGGGTAAGGTGG	0.333													4	152					0	0	1	0	0	C	94259039	G	C	94259039	3	2	467	1	0	0	0	0	1	0	0	0	14256	1348	47	5	1281	5	SGCE	7	94259039	Missense_Mutation	SNP	G	TCGA-TM-A84I-01A-11D-A36O-08		94259039	64879624	18	36512											
SLC12A9	56996	broad.mit.edu	37	7	100463503	100463504	+	Frame_Shift_Ins	INS	-	-	C	rs149306595	byFrequency	TCGA-TM-A84I-01A-11D-A36O-08	TCGA-TM-A84I-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7095e40-74eb-4208-bc64-b2e977c95224	3f955092-ccb9-4616-b97b-d03c9d818f3c	g.chr7:100463503_100463504insC	ENST00000354161.3	+	14	2146_2147	c.2021_2022insC	c.(2020-2025)agccccfs	p.SP674fs		NM_020246.3	NP_064631.2	Q9BXP2	S12A9_HUMAN	solute carrier family 12, member 9	674						integral to membrane|plasma membrane	cation:chloride symporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(20)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	41	Lung NSC(181;0.041)|all_lung(186;0.0581)					GCTCCTGGGAGCCCCCGGGCCC	0.678													8	44	---	---	---	---						C	100463504	-	C	100463503	7	5	467	1	0	1	1	0	0	0	0	0	14445	971	34	0	2071	0	SLC12A9	7	100463503	Frame_Shift_Ins	INS	-	TCGA-TM-A84I-01A-11D-A36O-08	6204464	100463503	58675160	19	36513											
OR2A5	393046	broad.mit.edu	37	7	143748010	143748010	+	Missense_Mutation	SNP	T	T	A			TCGA-TM-A84I-01A-11D-A36O-08	TCGA-TM-A84I-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7095e40-74eb-4208-bc64-b2e977c95224	3f955092-ccb9-4616-b97b-d03c9d818f3c	g.chr7:143748010T>A	ENST00000408906.2	+	1	550	c.516T>A	c.(514-516)caT>caA	p.H172Q		NM_012365.1	NP_036497.1	Q96R48	OR2A5_HUMAN	olfactory receptor, family 2, subfamily A, member 5	172					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(3)|large_intestine(5)|lung(23)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	38	Melanoma(164;0.0783)					GTGGGCCCCATGAAATCAACC	0.542													43	182					0	0	1	0	0	A	143748010	T	A	143748010	3	1	467	1	0	0	0	0	1	0	0	0	11029	1461	51	4	518	4	OR2A5	7	143748010	Missense_Mutation	SNP	T	TCGA-TM-A84I-01A-11D-A36O-08	43284507	143748010	15390653	20	36514											
PRKDC	5591	broad.mit.edu	37	8	48697720	48697720	+	Missense_Mutation	SNP	C	C	G			TCGA-TM-A84I-01A-11D-A36O-08	TCGA-TM-A84I-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7095e40-74eb-4208-bc64-b2e977c95224	3f955092-ccb9-4616-b97b-d03c9d818f3c	g.chr8:48697720C>G	ENST00000314191.2	-	78	11114	c.11058G>C	c.(11056-11058)atG>atC	p.M3686I	PRKDC_ENST00000338368.3_Missense_Mutation_p.M3686I|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	3687					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				TGAAGTCGCTCATCCAGGGTG	0.458								Non-homologous end-joining					3	49					0	0	1	0	0	G	48697720	C	G	48697720	3	3	467	1	0	0	0	0	1	0	0	0	12573	826	29	5	1365	5	PRKDC	8	48697720	Missense_Mutation	SNP	C	TCGA-TM-A84I-01A-11D-A36O-08		48697720	97666302	21	36515											
VPS13B	157680	broad.mit.edu	37	8	100533211	100533211	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A84I-01A-11D-A36O-08	TCGA-TM-A84I-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7095e40-74eb-4208-bc64-b2e977c95224	3f955092-ccb9-4616-b97b-d03c9d818f3c	g.chr8:100533211G>A	ENST00000358544.2	+	30	4904	c.4793G>A	c.(4792-4794)aGa>aAa	p.R1598K	VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Missense_Mutation_p.R1573K	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	1598					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			CCCCTTGGCAGATCTGTCCTT	0.403													9	56					0	0	1	0	0	A	100533211	G	A	100533211	3	1	467	1	0	0	0	0	1	0	0	0	17250	942	33	2	5101	2	VPS13B	8	100533211	Missense_Mutation	SNP	G	TCGA-TM-A84I-01A-11D-A36O-08	51835491	100533211	45830811	22	36516											
TEK	7010	broad.mit.edu	37	9	27157891	27157891	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A84I-01A-11D-A36O-08	TCGA-TM-A84I-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7095e40-74eb-4208-bc64-b2e977c95224	3f955092-ccb9-4616-b97b-d03c9d818f3c	g.chr9:27157891G>A	ENST00000380036.4	+	2	557	c.115G>A	c.(115-117)Gaa>Aaa	p.E39K	TEK_ENST00000406359.4_Missense_Mutation_p.E39K|TEK_ENST00000519097.1_Intron	NM_000459.3	NP_000450	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial	39					angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)		ATCTGATGCTGAAACATCTCT	0.478													19	83					0	0	1	0	0	A	27157891	G	A	27157891	3	1	467	1	0	0	0	0	1	0	0	0	15810	1291	45	2	121	2	TEK	9	27157891	Missense_Mutation	SNP	G	TCGA-TM-A84I-01A-11D-A36O-08		27157891	114055540	23	36517											
AQP7	364	broad.mit.edu	37	9	33385821	33385821	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A84I-01A-11D-A36O-08	TCGA-TM-A84I-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7095e40-74eb-4208-bc64-b2e977c95224	3f955092-ccb9-4616-b97b-d03c9d818f3c	g.chr9:33385821G>A	ENST00000537089.1	-	6	611	c.293C>T	c.(292-294)aCg>aTg	p.T98M	AQP7_ENST00000377425.4_Missense_Mutation_p.T133M|AQP7_ENST00000541274.1_Silent_p.H58H|AQP7_ENST00000539936.1_Missense_Mutation_p.T190M			O14520	AQP7_HUMAN	aquaporin 7	190					excretion|generation of precursor metabolites and energy	cell-cell junction|cytoplasm|integral to plasma membrane	glycerol channel activity|water channel activity			NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)		CTCCTGGTCCGTGATGGCGAA	0.612													31	50					0	0	1	0	0	A	33385821	G	A	33385821	3	1	467	1	0	0	0	0	1	0	0	0	828	1145	40	1	467	1	AQP7	9	33385821	Missense_Mutation	SNP	G	TCGA-TM-A84I-01A-11D-A36O-08	6227930	33385821	107827610	24	36518											
CD72	971	broad.mit.edu	37	9	35616134	35616134	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A84I-01A-11D-A36O-08	TCGA-TM-A84I-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7095e40-74eb-4208-bc64-b2e977c95224	3f955092-ccb9-4616-b97b-d03c9d818f3c	g.chr9:35616134G>A	ENST00000396757.1	-	6	658	c.494C>T	c.(493-495)gCg>gTg	p.A165V	CD72_ENST00000259633.4_Missense_Mutation_p.A165V|CD72_ENST00000490239.1_5'UTR			P21854	CD72_HUMAN	CD72 molecule	165					axon guidance|cell adhesion	integral to plasma membrane	receptor binding|sugar binding|transmembrane receptor activity			large_intestine(5)|liver(1)|lung(6)	12			Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CTGACTCTGCGCCAGCTCTCT	0.607													19	58					0	0	1	0	0	A	35616134	G	A	35616134	3	1	467	1	0	0	0	0	1	0	0	0	3056	1087	38	1	601	1	CD72	9	35616134	Missense_Mutation	SNP	G	TCGA-TM-A84I-01A-11D-A36O-08	2230313	35616134	105597297	25	36519											
GPR21	2844	broad.mit.edu	37	9	125797418	125797418	+	Silent	SNP	C	C	T			TCGA-TM-A84I-01A-11D-A36O-08	TCGA-TM-A84I-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7095e40-74eb-4208-bc64-b2e977c95224	3f955092-ccb9-4616-b97b-d03c9d818f3c	g.chr9:125797418C>T	ENST00000373642.1	+	1	613	c.573C>T	c.(571-573)ttC>ttT	p.F191F	RABGAP1_ENST00000373647.4_Intron|RABGAP1_ENST00000373643.5_Intron|RABGAP1_ENST00000493854.1_Intron	NM_005294.1	NP_005285.1	Q99679	GPR21_HUMAN	G protein-coupled receptor 21	191						integral to plasma membrane	G-protein coupled receptor activity			endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	15						ACTCCTACTTCACCCTGTTCA	0.502													43	67					0	0	1	0	0	T	125797418	C	T	125797418	2	4	467	1	0	0	0	0	0	0	0	1	6721	825	29	2		2	GPR21	9	125797418	Silent	SNP	C	TCGA-TM-A84I-01A-11D-A36O-08	90181284	125797418	15416013	26	36520											
PPP2R5B	5526	broad.mit.edu	37	11	64699330	64699330	+	Missense_Mutation	SNP	C	C	T			TCGA-TM-A84I-01A-11D-A36O-08	TCGA-TM-A84I-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7095e40-74eb-4208-bc64-b2e977c95224	3f955092-ccb9-4616-b97b-d03c9d818f3c	g.chr11:64699330C>T	ENST00000164133.2	+	11	1728	c.1106C>T	c.(1105-1107)cCc>cTc	p.P369L		NM_006244.3	NP_006235.1	Q15173	2A5B_HUMAN	protein phosphatase 2, regulatory subunit B', beta	369					signal transduction	cytoplasm|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(2)	21						GTTTCCAGCCCCCATTTCCAG	0.557													7	31					0	0	1	0	0	T	64699330	C	T	64699330	3	4	467	1	0	0	0	0	1	0	0	0	12442	623	22	2	1144	2	PPP2R5B	11	64699330	Missense_Mutation	SNP	C	TCGA-TM-A84I-01A-11D-A36O-08		64699330	70307186	27	36521											
SCNN1A	6337	broad.mit.edu	37	12	6457372	6457372	+	Silent	SNP	G	G	A			TCGA-TM-A84I-01A-11D-A36O-08	TCGA-TM-A84I-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7095e40-74eb-4208-bc64-b2e977c95224	3f955092-ccb9-4616-b97b-d03c9d818f3c	g.chr12:6457372G>A	ENST00000358945.3	-	13	2183	c.1743C>T	c.(1741-1743)ttC>ttT	p.F581F	SCNN1A_ENST00000360168.3_Silent_p.F618F|SCNN1A_ENST00000396966.2_3'UTR|SCNN1A_ENST00000228916.2_Silent_p.F559F|SCNN1A_ENST00000540037.1_Silent_p.F259F|SCNN1A_ENST00000543768.1_Silent_p.F582F			P37088	SCNNA_HUMAN	sodium channel, non-voltage-gated 1 alpha subunit	559					excretion|response to stimulus|sensory perception of taste	apical plasma membrane	WW domain binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(2)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	27					Amiloride(DB00594)|Triamterene(DB00384)	CCGAGGAGCCGAACCACAGGC	0.567													30	63					0	0	1	0	0	A	6457372	G	A	6457372	2	1	467	1	0	0	0	0	0	0	0	1	13981	1049	37	1		1	SCNN1A	12	6457372	Silent	SNP	G	TCGA-TM-A84I-01A-11D-A36O-08		6457372	127394523	28	36522											
CD163L1	283316	broad.mit.edu	37	12	7522118	7522118	+	Missense_Mutation	SNP	C	C	A			TCGA-TM-A84I-01A-11D-A36O-08	TCGA-TM-A84I-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7095e40-74eb-4208-bc64-b2e977c95224	3f955092-ccb9-4616-b97b-d03c9d818f3c	g.chr12:7522118C>A	ENST00000313599.3	-	15	3931	c.3874G>T	c.(3874-3876)Gct>Tct	p.A1292S	CD163L1_ENST00000416109.2_Missense_Mutation_p.A1302S|CD163L1_ENST00000396630.1_Missense_Mutation_p.A1292S			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	1292	SRCR 12.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						GCAGCCAGAGCAGAGCCACAG	0.592													6	128					0.0215528	0.0223817	1	1	0	A	7522118	C	A	7522118	3	1	467	1	0	0	0	0	1	0	0	0	2990	710	25	5	507	5	CD163L1	12	7522118	Missense_Mutation	SNP	C	TCGA-TM-A84I-01A-11D-A36O-08	1064746	7522118	126329777	29	36523											
KRT83	3889	broad.mit.edu	37	12	52715004	52715004	+	Missense_Mutation	SNP	C	C	T			TCGA-TM-A84I-01A-11D-A36O-08	TCGA-TM-A84I-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7095e40-74eb-4208-bc64-b2e977c95224	3f955092-ccb9-4616-b97b-d03c9d818f3c	g.chr12:52715004C>T	ENST00000293670.3	-	1	178	c.116G>A	c.(115-117)gGc>gAc	p.G39D		NM_002282.3	NP_002273.3	P78385	KRT83_HUMAN	keratin 83	39	Head.				epidermis development	keratin filament	structural molecule activity			NS(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(4)|stomach(7)|upper_aerodigestive_tract(1)	32	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		GCAGGAGATGCCGCGGTAGGG	0.706													8	1005					0	0	1	0	0	T	52715004	C	T	52715004	3	4	467	1	0	0	0	0	1	0	0	0	8540	739	26	2	1401	2	KRT83	12	52715004	Missense_Mutation	SNP	C	TCGA-TM-A84I-01A-11D-A36O-08	45192886	52715004	81136891	30	36524											
LRP1	4035	broad.mit.edu	37	12	57552234	57552234	+	Silent	SNP	C	C	T			TCGA-TM-A84I-01A-11D-A36O-08	TCGA-TM-A84I-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7095e40-74eb-4208-bc64-b2e977c95224	3f955092-ccb9-4616-b97b-d03c9d818f3c	g.chr12:57552234C>T	ENST00000243077.3	+	11	2077	c.1611C>T	c.(1609-1611)atC>atT	p.I537I		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	537					aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	GGCCAGGCATCATCCGGGGCA	0.592													16	22					0	0	1	0	0	T	57552234	C	T	57552234	2	4	467	1	0	0	0	0	0	0	0	1	8996	816	29	2		2	LRP1	12	57552234	Silent	SNP	C	TCGA-TM-A84I-01A-11D-A36O-08	4837230	57552234	76299661	31	36525											
LRP1	4035	broad.mit.edu	37	12	57552342	57552342	+	Missense_Mutation	SNP	C	C	G			TCGA-TM-A84I-01A-11D-A36O-08	TCGA-TM-A84I-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7095e40-74eb-4208-bc64-b2e977c95224	3f955092-ccb9-4616-b97b-d03c9d818f3c	g.chr12:57552342C>G	ENST00000243077.3	+	11	2185	c.1719C>G	c.(1717-1719)atC>atG	p.I573M		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	573					aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CCGGCTTCATCTACTTTGCCG	0.577													17	16					0	0	1	0	0	G	57552342	C	G	57552342	3	3	467	1	0	0	0	0	1	0	0	0	8996	903	32	4	1761	4	LRP1	12	57552342	Missense_Mutation	SNP	C	TCGA-TM-A84I-01A-11D-A36O-08	108	57552342	76299553	32	36526											
RIMBP2	23504	broad.mit.edu	37	12	130919378	130919378	+	Silent	SNP	G	G	A			TCGA-TM-A84I-01A-11D-A36O-08	TCGA-TM-A84I-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7095e40-74eb-4208-bc64-b2e977c95224	3f955092-ccb9-4616-b97b-d03c9d818f3c	g.chr12:130919378G>A	ENST00000261655.4	-	11	2266	c.2103C>T	c.(2101-2103)taC>taT	p.Y701Y	RIMBP2_ENST00000535703.1_Silent_p.Y609Y|RIMBP2_ENST00000536002.1_Silent_p.Y609Y	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	701						cell junction|synapse				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		CTGAGGCGGCGTACTGCCCCG	0.587													19	20					0	0	1	0	0	A	130919378	G	A	130919378	2	1	467	1	0	0	0	0	0	0	0	1	13413	1140	40	1		1	RIMBP2	12	130919378	Silent	SNP	G	TCGA-TM-A84I-01A-11D-A36O-08	73367036	130919378	2932517	33	36527											
PRKCH	5583	broad.mit.edu	37	14	62014587	62014587	+	Missense_Mutation	SNP	C	C	T			TCGA-TM-A84I-01A-11D-A36O-08	TCGA-TM-A84I-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7095e40-74eb-4208-bc64-b2e977c95224	3f955092-ccb9-4616-b97b-d03c9d818f3c	g.chr14:62014587C>T	ENST00000332981.5	+	13	2273	c.1888C>T	c.(1888-1890)Cct>Tct	p.P630S	RP11-47I22.4_ENST00000556347.1_Silent_p.R134R|PRKCH_ENST00000555082.1_Missense_Mutation_p.P469S|PRKCH_ENST00000556245.1_3'UTR	NM_006255.3	NP_006246.2	P24723	KPCL_HUMAN	protein kinase C, eta	630	AGC-kinase C-terminal.				intracellular signal transduction|platelet activation	cytosol|plasma membrane	ATP binding|enzyme binding|metal ion binding|protein kinase C activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(4)|ovary(2)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25				OV - Ovarian serous cystadenocarcinoma(108;0.045)|BRCA - Breast invasive adenocarcinoma(234;0.0906)|KIRC - Kidney renal clear cell carcinoma(182;0.182)		AATAGAACCGCCTTTCAGACC	0.517													5	125					0	0	1	0	0	T	62014587	C	T	62014587	3	4	467	1	0	0	0	0	1	0	0	0	12565	739	26	2	1938	2	PRKCH	14	62014587	Missense_Mutation	SNP	C	TCGA-TM-A84I-01A-11D-A36O-08		62014587	45334953	34	36528											
MKL2	57496	broad.mit.edu	37	16	14340397	14340397	+	Missense_Mutation	SNP	T	T	C			TCGA-TM-A84I-01A-11D-A36O-08	TCGA-TM-A84I-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7095e40-74eb-4208-bc64-b2e977c95224	3f955092-ccb9-4616-b97b-d03c9d818f3c	g.chr16:14340397T>C	ENST00000571589.1	+	12	1452	c.1280T>C	c.(1279-1281)aTt>aCt	p.I427T	MKL2_ENST00000341243.5_Missense_Mutation_p.I416T|MKL2_ENST00000318282.5_Missense_Mutation_p.I427T|MKL2_ENST00000574045.1_Missense_Mutation_p.I427T	NM_014048.3	NP_054767.3	Q9ULH7	MKL2_HUMAN	MKL/myocardin-like 2	416					cell differentiation|muscle organ development|positive regulation of striated muscle tissue development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		identical protein binding|nucleic acid binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CCGGACCTCATTGAGCGCCTA	0.507													8	42					0	0	1	0	0	C	14340397	T	C	14340397	3	2	467	1	0	0	0	0	1	0	0	0	9650	1493	52	3	1318	3	MKL2	16	14340397	Missense_Mutation	SNP	T	TCGA-TM-A84I-01A-11D-A36O-08		14340397	76014356	35	36529											
ALOX15	246	broad.mit.edu	37	17	4540428	4540428	+	Silent	SNP	G	G	A			TCGA-TM-A84I-01A-11D-A36O-08	TCGA-TM-A84I-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7095e40-74eb-4208-bc64-b2e977c95224	3f955092-ccb9-4616-b97b-d03c9d818f3c	g.chr17:4540428G>A	ENST00000570836.1	-	8	1029	c.933C>T	c.(931-933)ctC>ctT	p.L311L	ALOX15_ENST00000545513.1_Silent_p.L333L|ALOX15_ENST00000574640.1_Silent_p.L272L|ALOX15_ENST00000293761.3_Silent_p.L311L			P16050	LOX15_HUMAN	arachidonate 15-lipoxygenase	311	Lipoxygenase.				inflammatory response|leukotriene biosynthetic process	nucleus	arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(5)	20				READ - Rectum adenocarcinoma(115;0.0327)	Ciclopirox(DB01188)|Masoprocol(DB00179)|Zileuton(DB00744)	CCATGGGCAAGAGTTTCCCAT	0.522													8	55					0	0	1	0	0	A	4540428	G	A	4540428	2	1	467	1	0	0	0	0	0	0	0	1	534	929	33	2		2	ALOX15	17	4540428	Silent	SNP	G	TCGA-TM-A84I-01A-11D-A36O-08		4540428	76654782	36	36530											
TP53	7157	broad.mit.edu	37	17	7578190	7578190	+	Missense_Mutation	SNP	T	T	C	rs121912666		TCGA-TM-A84I-01A-11D-A36O-08	TCGA-TM-A84I-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7095e40-74eb-4208-bc64-b2e977c95224	3f955092-ccb9-4616-b97b-d03c9d818f3c	g.chr17:7578190T>C	ENST00000420246.2	-	6	791	c.659A>G	c.(658-660)tAt>tGt	p.Y220C	TP53_ENST00000413465.2_Missense_Mutation_p.Y220C|TP53_ENST00000445888.2_Missense_Mutation_p.Y220C|TP53_ENST00000269305.4_Missense_Mutation_p.Y220C|TP53_ENST00000455263.2_Missense_Mutation_p.Y220C|TP53_ENST00000359597.4_Missense_Mutation_p.Y220C|TP53_ENST00000574684.1_Intron	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	220	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 a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.Y220C(278)|p.Y127C(24)|p.Y220S(12)|p.?(11)|p.0?(8)|p.D208fs*1(1)|p.Y220_P223delYEPP(1)|p.V218_E224delVPYEPPE(1)|p.V218_E221delVPYE(1)|p.Y127S(1)|p.V218_Y220delVPY(1)|p.Y220fs*25(1)|p.V216_Y220delVVVPY(1)|p.Y220fs*2(1)|p.V218fs*26(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)		AGGCGGCTCATAGGGCACCAC	0.557		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)			18	13					0	0	1	0	0	C	7578190	T	C	7578190	3	2	467	1	0	0	0	0	1	0	0	0	16442	1406	49	3	635	3	TP53	17	7578190	Missense_Mutation	SNP	T	TCGA-TM-A84I-01A-11D-A36O-08	3037762	7578190	73617020	37	36531											
TP53	7157	broad.mit.edu	37	17	7578406	7578406	+	Missense_Mutation	SNP	C	C	T	rs28934578		TCGA-TM-A84I-01A-11D-A36O-08	TCGA-TM-A84I-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7095e40-74eb-4208-bc64-b2e977c95224	3f955092-ccb9-4616-b97b-d03c9d818f3c	g.chr17:7578406C>T	ENST00000420246.2	-	5	656	c.524G>A	c.(523-525)cGc>cAc	p.R175H	TP53_ENST00000413465.2_Missense_Mutation_p.R175H|TP53_ENST00000445888.2_Missense_Mutation_p.R175H|TP53_ENST00000269305.4_Missense_Mutation_p.R175H|TP53_ENST00000455263.2_Missense_Mutation_p.R175H|TP53_ENST00000359597.4_Missense_Mutation_p.R175H|TP53_ENST00000574684.1_5'UTR	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	175	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> C (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; dbSNP:rs28934578).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> 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.R175H(847)|p.R43H(36)|p.R82H(36)|p.R175L(19)|p.0?(8)|p.R175P(6)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*5(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(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)		GTGGGGGCAGCGCCTCACAAC	0.652	R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY)	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)			31	35					0	0	1	0	0	T	7578406	C	T	7578406	3	4	467	1	0	0	0	0	1	0	0	0	16442	768	27	1	774	1	TP53	17	7578406	Missense_Mutation	SNP	C	TCGA-TM-A84I-01A-11D-A36O-08	216	7578406	73616804	38	36532											
GALNT1	2589	broad.mit.edu	37	18	33243711	33243711	+	Missense_Mutation	SNP	A	A	G			TCGA-TM-A84I-01A-11D-A36O-08	TCGA-TM-A84I-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7095e40-74eb-4208-bc64-b2e977c95224	3f955092-ccb9-4616-b97b-d03c9d818f3c	g.chr18:33243711A>G	ENST00000269195.5	+	2	362	c.259A>G	c.(259-261)Atg>Gtg	p.M87V	GALNT1_ENST00000591081.1_Missense_Mutation_p.M87V|GALNT1_ENST00000537549.1_Missense_Mutation_p.M27V	NM_020474.3	NP_065207.2	Q10472	GALT1_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 1 (GalNAc-T1)	87					protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	extracellular region|Golgi cisterna membrane|integral to membrane|perinuclear region of cytoplasm	manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(4)|stomach(1)	21						GTTCAATTTAATGGCAAGTGA	0.378													13	47					0	0	1	0	0	G	33243711	A	G	33243711	3	3	467	1	0	0	0	0	1	0	0	0	6247	101	4	3	265	3	GALNT1	18	33243711	Missense_Mutation	SNP	A	TCGA-TM-A84I-01A-11D-A36O-08		33243711	44833537	39	36533											
AP1M2	10053	broad.mit.edu	37	19	10685148	10685148	+	Frame_Shift_Del	DEL	A	A	-			TCGA-TM-A84I-01A-11D-A36O-08	TCGA-TM-A84I-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7095e40-74eb-4208-bc64-b2e977c95224	3f955092-ccb9-4616-b97b-d03c9d818f3c	g.chr19:10685148delA	ENST00000590923.1	-	11	1283	c.1200delT	c.(1198-1200)attfs	p.I400fs	AP1M2_ENST00000250244.6_Frame_Shift_Del_p.I398fs			Q9Y6Q5	AP1M2_HUMAN	adaptor-related protein complex 1, mu 2 subunit	398	MHD.				cellular membrane organization|post-Golgi vesicle-mediated transport|protein targeting|regulation of defense response to virus by virus|vesicle targeting|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding			endometrium(4)|large_intestine(1)|lung(1)|ovary(2)|urinary_tract(1)	9			Epithelial(33;1.58e-05)|all cancers(31;6.36e-05)			CACTTTTCTCAATGATCTTCA	0.582													2	4	---	---	---	---						-	10685148	A	-	10685148	7	5	467	1	0	1	0	1	0	0	0	0	731	126	5	0	85	0	AP1M2	19	10685148	Frame_Shift_Del	DEL	A	TCGA-TM-A84I-01A-11D-A36O-08		10685148	48443835	40	36534											
CYP2A13	1553	broad.mit.edu	37	19	41601812	41601812	+	Missense_Mutation	SNP	C	C	A			TCGA-TM-A84I-01A-11D-A36O-08	TCGA-TM-A84I-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7095e40-74eb-4208-bc64-b2e977c95224	3f955092-ccb9-4616-b97b-d03c9d818f3c	g.chr19:41601812C>A	ENST00000330436.3	+	9	1451	c.1451C>A	c.(1450-1452)cCa>cAa	p.P484Q		NM_000766.4	NP_000757.2	Q16696	CP2AD_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 13	484					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding			breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2)	42					Clomipramine(DB01242)|Nicotine(DB00184)	GCCACGATCCCACGAAACTAC	0.632													18	74					4.35082e-09	5.10748e-09	1	1	0	A	41601812	C	A	41601812	3	1	467	1	0	0	0	0	1	0	0	0	4184	594	21	5	1485	5	CYP2A13	19	41601812	Missense_Mutation	SNP	C	TCGA-TM-A84I-01A-11D-A36O-08	30916664	41601812	17527171	41	36535											
WFDC8	90199	broad.mit.edu	37	20	44184381	44184381	+	Missense_Mutation	SNP	A	A	T			TCGA-TM-A84I-01A-11D-A36O-08	TCGA-TM-A84I-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7095e40-74eb-4208-bc64-b2e977c95224	3f955092-ccb9-4616-b97b-d03c9d818f3c	g.chr20:44184381A>T	ENST00000357199.4	-	4	482	c.404T>A	c.(403-405)tTc>tAc	p.F135Y	WFDC8_ENST00000289953.2_Missense_Mutation_p.F135Y	NM_181510.2	NP_852611.2	Q8IUA0	WFDC8_HUMAN	WAP four-disulfide core domain 8	135	BPTI/Kunitz inhibitor.					extracellular region	serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|stomach(1)|upper_aerodigestive_tract(1)	15		Myeloproliferative disorder(115;0.0122)				CTCATTTAAGAAGTTGTTGGC	0.443													4	70					0	0	1	0	0	T	44184381	A	T	44184381	3	4	467	1	0	0	0	0	1	0	0	0	17416	246	9	5	333	5	WFDC8	20	44184381	Missense_Mutation	SNP	A	TCGA-TM-A84I-01A-11D-A36O-08		44184381	18841139	42	36536											
SEC14L4	284904	broad.mit.edu	37	22	30890140	30890140	+	Nonsense_Mutation	SNP	G	G	A	rs141785416		TCGA-TM-A84I-01A-11D-A36O-08	TCGA-TM-A84I-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7095e40-74eb-4208-bc64-b2e977c95224	3f955092-ccb9-4616-b97b-d03c9d818f3c	g.chr22:30890140G>A	ENST00000392772.2	-	7	692	c.415C>T	c.(415-417)Cga>Tga	p.R139*	SEC14L4_ENST00000540456.1_Nonsense_Mutation_p.R178*|SEC14L4_ENST00000255858.7_Nonsense_Mutation_p.R193*|SEC14L4_ENST00000381982.3_Nonsense_Mutation_p.R193*			Q9UDX3	S14L4_HUMAN	SEC14-like 4 (S. cerevisiae)	193	CRAL-TRIO.					integral to membrane|intracellular	lipid binding|transporter activity	p.R193*(1)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|pancreas(1)|skin(1)	21					Vitamin E(DB00163)	GGCTTACCTCGAATAACAATT	0.483													3	48					0	0	1	0	0	A	30890140	G	A	30890140	4	1	467	1	0	0	0	0	0	1	0	0	14038	1066	37	1	673	1	SEC14L4	22	30890140	Nonsense_Mutation	SNP	G	TCGA-TM-A84I-01A-11D-A36O-08		30890140	20414426	43	36537											
ANKRD54	129138	broad.mit.edu	37	22	38227984	38227984	+	Missense_Mutation	SNP	A	A	G			TCGA-TM-A84I-01A-11D-A36O-08	TCGA-TM-A84I-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7095e40-74eb-4208-bc64-b2e977c95224	3f955092-ccb9-4616-b97b-d03c9d818f3c	g.chr22:38227984A>G	ENST00000215941.4	-	8	1061	c.869T>C	c.(868-870)cTc>cCc	p.L290P	ANKRD54_ENST00000411961.2_Missense_Mutation_p.L274P|ANKRD54_ENST00000498417.1_5'UTR|ANKRD54_ENST00000406423.1_Missense_Mutation_p.L170P|ANKRD54_ENST00000609454.1_Missense_Mutation_p.L97P	NM_138797.2	NP_620152.1	Q6NXT1	ANR54_HUMAN	ankyrin repeat domain 54	290										lung(1)	1	Melanoma(58;0.045)					CTGCAGACTGAGGGAGGTGAA	0.602													3	11					0	0	1	0	0	G	38227984	A	G	38227984	3	3	467	1	0	0	0	0	1	0	0	0	674	304	11	3	37	3	ANKRD54	22	38227984	Missense_Mutation	SNP	A	TCGA-TM-A84I-01A-11D-A36O-08	7337844	38227984	13076582	44	36538											
ATRX	546	broad.mit.edu	37	X	76920170	76920173	+	Frame_Shift_Del	DEL	TTCT	TTCT	-			TCGA-TM-A84I-01A-11D-A36O-08	TCGA-TM-A84I-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7095e40-74eb-4208-bc64-b2e977c95224	3f955092-ccb9-4616-b97b-d03c9d818f3c	g.chrX:76920170_76920173delTTCT	ENST00000373344.5	-	11	4118_4121	c.3904_3907delAGAA	c.(3904-3909)agaactfs	p.RT1302fs	ATRX_ENST00000395603.3_Frame_Shift_Del_p.RT1264fs|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1302					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.R1302fs*7(1)|p.?(1)|p.R1302fs*44(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)	TGTTTTCCAGTTCTTTTTTTCCCT	0.377			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						69	3	---	---	---	---						-	76920173	TTCT	-	76920170	7	5	467	1	0	1	0	1	0	0	0	0	1206	1725	60	0	3671	0	ATRX	23	76920170	Frame_Shift_Del	DEL	TTCT	TCGA-TM-A84I-01A-11D-A36O-08		76920170	78350390	45	36539											
SATL1	340562	broad.mit.edu	37	X	84362924	84362924	+	Missense_Mutation	SNP	G	G	C			TCGA-TM-A84I-01A-11D-A36O-08	TCGA-TM-A84I-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7095e40-74eb-4208-bc64-b2e977c95224	3f955092-ccb9-4616-b97b-d03c9d818f3c	g.chrX:84362924G>C	ENST00000509231.1	-	1	1130	c.1051C>G	c.(1051-1053)Cca>Gca	p.P351A	SATL1_ENST00000395409.3_Missense_Mutation_p.P164A|SATL1_ENST00000332921.5_Missense_Mutation_p.P164A			Q86VE3	SATL1_HUMAN	spermidine/spermine N1-acetyl transferase-like 1	164	N-acetyltransferase.						N-acetyltransferase activity			NS(1)|breast(5)|endometrium(2)|large_intestine(3)|lung(13)|skin(3)|stomach(1)|urinary_tract(1)	29						CGTTGCGGTGGACCTGGTTGG	0.542													21	0					0	0	1	0	0	C	84362924	G	C	84362924	3	2	467	1	0	0	0	0	1	0	0	0	13908	1174	41	5	867	5	SATL1	23	84362924	Missense_Mutation	SNP	G	TCGA-TM-A84I-01A-11D-A36O-08	7442754	84362924	70907636	46	36540											
NXF3	56000	broad.mit.edu	37	X	102339304	102339304	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A84I-01A-11D-A36O-08	TCGA-TM-A84I-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7095e40-74eb-4208-bc64-b2e977c95224	3f955092-ccb9-4616-b97b-d03c9d818f3c	g.chrX:102339304G>A	ENST00000395065.3	-	3	418	c.317C>T	c.(316-318)cCg>cTg	p.P106L	NXF3_ENST00000425463.2_Missense_Mutation_p.P17L|NXF3_ENST00000425644.1_5'UTR	NM_022052.1	NP_071335.1	Q9H4D5	NXF3_HUMAN	nuclear RNA export factor 3	106						cytoplasm|nuclear RNA export factor complex	nucleocytoplasmic transporter activity|nucleotide binding|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						GGTCCCATCCGGCATGTTCCC	0.473													23	38					0	0	1	0	0	A	102339304	G	A	102339304	3	1	467	1	0	0	0	0	1	0	0	0	10833	1116	39	1	1346	1	NXF3	23	102339304	Missense_Mutation	SNP	G	TCGA-TM-A84I-01A-11D-A36O-08	17976380	102339304	52931256	47	36541											
IPP	3652	broad.mit.edu	37	1	46179946	46179946	+	Missense_Mutation	SNP	T	T	C			TCGA-TM-A84J-01A-11D-A36O-08	TCGA-TM-A84J-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4929553-67d7-45f4-ab30-e8218b0fe697	7a11066b-492d-4df1-8136-7bd2739786ba	g.chr1:46179946T>C	ENST00000396478.3	-	8	1604	c.1502A>G	c.(1501-1503)cAt>cGt	p.H501R		NM_005897.2	NP_005888.1	Q9Y573	IPP_HUMAN	intracisternal A particle-promoted polypeptide	501						actin cytoskeleton|cytoplasm	actin binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|stomach(2)	20	Acute lymphoblastic leukemia(166;0.155)					TTCTACAGTATGAAGAGCATC	0.408													32	35					0	0	1	0	0	C	46179946	T	C	46179946	3	2	468	1	0	0	0	0	1	0	0	0	7844	1464	51	3	362	3	IPP	1	46179946	Missense_Mutation	SNP	T	TCGA-TM-A84J-01A-11D-A36O-08		46179946	203070675	1	36542											
CYP4A22	284541	broad.mit.edu	37	1	47608994	47608994	+	Silent	SNP	C	C	T			TCGA-TM-A84J-01A-11D-A36O-08	TCGA-TM-A84J-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4929553-67d7-45f4-ab30-e8218b0fe697	7a11066b-492d-4df1-8136-7bd2739786ba	g.chr1:47608994C>T	ENST00000371891.3	+	5	595	c.564C>T	c.(562-564)caC>caT	p.H188H	CYP4A22_ENST00000371890.3_Silent_p.H188H|CYP4A22_ENST00000485117.1_3'UTR|CYP4A22-AS1_ENST00000444042.2_lincRNA|CYP4A22_ENST00000294337.3_Silent_p.H188H	NM_001010969.2	NP_001010969.2	Q5TCH4	CP4AM_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 22	188						endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TCTTTCAGCACGTCTCCTTGA	0.567													9	38					0	0	1	0	0	T	47608994	C	T	47608994	2	4	468	1	0	0	0	0	0	0	0	1	4207	535	19	1		1	CYP4A22	1	47608994	Silent	SNP	C	TCGA-TM-A84J-01A-11D-A36O-08	1429048	47608994	201641627	2	36543											
LPHN2	23266	broad.mit.edu	37	1	82421687	82421687	+	Missense_Mutation	SNP	G	G	T			TCGA-TM-A84J-01A-11D-A36O-08	TCGA-TM-A84J-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4929553-67d7-45f4-ab30-e8218b0fe697	7a11066b-492d-4df1-8136-7bd2739786ba	g.chr1:82421687G>T	ENST00000370728.1	+	13	2593	c.1948G>T	c.(1948-1950)Gtc>Ttc	p.V650F	LPHN2_ENST00000370730.1_Missense_Mutation_p.V650F|LPHN2_ENST00000319517.6_Missense_Mutation_p.V637F|LPHN2_ENST00000370715.1_Missense_Mutation_p.V637F|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000271029.4_Missense_Mutation_p.V650F|LPHN2_ENST00000359929.3_Missense_Mutation_p.V637F|LPHN2_ENST00000370713.1_Missense_Mutation_p.V637F|LPHN2_ENST00000370727.1_Missense_Mutation_p.V650F|LPHN2_ENST00000335786.5_Missense_Mutation_p.V650F|LPHN2_ENST00000370725.1_Missense_Mutation_p.V650F|LPHN2_ENST00000394879.1_Missense_Mutation_p.V637F|LPHN2_ENST00000370717.2_Missense_Mutation_p.V650F|LPHN2_ENST00000370721.1_Missense_Mutation_p.V575F|LPHN2_ENST00000370723.1_Missense_Mutation_p.V637F			O95490	LPHN2_HUMAN	latrophilin 2	650					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		AGGAGCTTTTGTCCTAGCTGA	0.368													27	34					1.16021e-09	1.20724e-09	1	1	0	T	82421687	G	T	82421687	3	4	468	1	0	0	0	0	1	0	0	0	8961	1377	48	5	1939	5	LPHN2	1	82421687	Missense_Mutation	SNP	G	TCGA-TM-A84J-01A-11D-A36O-08	34812693	82421687	166828934	3	36544											
DENND2C	163259	broad.mit.edu	37	1	115130509	115130509	+	Silent	SNP	A	A	G			TCGA-TM-A84J-01A-11D-A36O-08	TCGA-TM-A84J-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4929553-67d7-45f4-ab30-e8218b0fe697	7a11066b-492d-4df1-8136-7bd2739786ba	g.chr1:115130509A>G	ENST00000393274.1	-	19	3121	c.2496T>C	c.(2494-2496)caT>caC	p.H832H	DENND2C_ENST00000393277.1_Silent_p.H720H|DENND2C_ENST00000393276.3_Silent_p.H775H|DENND2C_ENST00000481894.1_5'UTR	NM_001256404.1	NP_001243333.1	Q68D51	DEN2C_HUMAN	DENN/MADD domain containing 2C	832	dDENN.									NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3)	37	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TCAAAGAATAATGTCCTACCA	0.453													9	42					0	0	1	0	0	G	115130509	A	G	115130509	2	3	468	1	0	0	0	0	0	0	0	1	4458	98	4	3		3	DENND2C	1	115130509	Silent	SNP	A	TCGA-TM-A84J-01A-11D-A36O-08	32708822	115130509	134120112	4	36545											
BCL9	607	broad.mit.edu	37	1	147091685	147091685	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A84J-01A-11D-A36O-08	TCGA-TM-A84J-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4929553-67d7-45f4-ab30-e8218b0fe697	7a11066b-492d-4df1-8136-7bd2739786ba	g.chr1:147091685G>A	ENST00000234739.3	+	8	2464	c.1724G>A	c.(1723-1725)gGg>gAg	p.G575E		NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	575	Pro-rich.				Wnt receptor signaling pathway	nucleus	protein binding	p.G575V(1)		breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					GAAATGGAAGGGCCGAATGTC	0.557			T	"IGH@, IGL@"	B-ALL								4	108					0	0	1	0	0	A	147091685	G	A	147091685	3	1	468	1	0	0	0	0	1	0	0	0	1379	1232	43	2	1742	2	BCL9	1	147091685	Missense_Mutation	SNP	G	TCGA-TM-A84J-01A-11D-A36O-08	31961176	147091685	102158936	5	36546											
DCST2	127579	broad.mit.edu	37	1	155004069	155004069	+	Silent	SNP	C	C	T			TCGA-TM-A84J-01A-11D-A36O-08	TCGA-TM-A84J-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4929553-67d7-45f4-ab30-e8218b0fe697	7a11066b-492d-4df1-8136-7bd2739786ba	g.chr1:155004069C>T	ENST00000368424.3	-	4	778	c.720G>A	c.(718-720)gcG>gcA	p.A240A	DCST2_ENST00000295536.5_Silent_p.A240A	NM_144622.2	NP_653223.2	Q5T1A1	DCST2_HUMAN	DC-STAMP domain containing 2	240						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|prostate(1)|skin(1)	38	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GTCCACAGAGCGCCAGTTTGA	0.592													11	51					0	0	1	0	0	T	155004069	C	T	155004069	2	4	468	1	0	0	0	0	0	0	0	1	4326	755	27	1		1	DCST2	1	155004069	Silent	SNP	C	TCGA-TM-A84J-01A-11D-A36O-08	7912384	155004069	94246552	6	36547											
HIST3H2BB	128312	broad.mit.edu	37	1	228646048	228646048	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A84J-01A-11D-A36O-08	TCGA-TM-A84J-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4929553-67d7-45f4-ab30-e8218b0fe697	7a11066b-492d-4df1-8136-7bd2739786ba	g.chr1:228646048G>A	ENST00000369160.2	+	1	241	c.218G>A	c.(217-219)cGc>cAc	p.R73H		NM_175055.2	NP_778225.1	Q8N257	H2B3B_HUMAN	histone cluster 3, H2bb	73					nucleosome assembly	nucleosome|nucleus	DNA binding	p.R73L(1)		skin(1)	1		Prostate(94;0.183)				ATCTTCGAGCGCATCGCCAGC	0.622													4	133					0	0	1	0	0	A	228646048	G	A	228646048	3	1	468	1	0	0	0	0	1	0	0	0	7224	1087	38	1	220	1	HIST3H2BB	1	228646048	Missense_Mutation	SNP	G	TCGA-TM-A84J-01A-11D-A36O-08	73641979	228646048	20604573	7	36548											
ZNF124	7678	broad.mit.edu	37	1	247323000	247323000	+	Missense_Mutation	SNP	A	A	G			TCGA-TM-A84J-01A-11D-A36O-08	TCGA-TM-A84J-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4929553-67d7-45f4-ab30-e8218b0fe697	7a11066b-492d-4df1-8136-7bd2739786ba	g.chr1:247323000A>G	ENST00000472531.1	-	2	273	c.146T>C	c.(145-147)cTg>cCg	p.L49P	ZNF124_ENST00000491356.1_Missense_Mutation_p.L49P|ZNF124_ENST00000491848.1_5'UTR|ZNF124_ENST00000543802.2_Missense_Mutation_p.L49P|ZNF124_ENST00000340684.6_Missense_Mutation_p.L49P	NM_001243740.1	NP_001230669.1	Q15973	ZN124_HUMAN	zinc finger protein 124	49	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			biliary_tract(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(3)|urinary_tract(2)	14	all_cancers(71;5.07e-05)|all_epithelial(71;8.72e-06)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0488)|Lung NSC(105;0.053)		OV - Ovarian serous cystadenocarcinoma(106;0.00739)			TATGGAAGCCAGATTCCTGAA	0.413													17	61					0	0	1	0	0	G	247323000	A	G	247323000	3	3	468	1	0	0	0	0	1	0	0	0	17778	188	7	3	735	3	ZNF124	1	247323000	Missense_Mutation	SNP	A	TCGA-TM-A84J-01A-11D-A36O-08	18676952	247323000	1927621	8	36549											
OR2T27	403239	broad.mit.edu	37	1	248813322	248813322	+	Silent	SNP	G	G	C			TCGA-TM-A84J-01A-11D-A36O-08	TCGA-TM-A84J-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4929553-67d7-45f4-ab30-e8218b0fe697	7a11066b-492d-4df1-8136-7bd2739786ba	g.chr1:248813322G>C	ENST00000344889.3	-	1	863	c.864C>G	c.(862-864)ctC>ctG	p.L288L		NM_001001824.1	NP_001001824.1	Q8NH04	O2T27_HUMAN	olfactory receptor, family 2, subfamily T, member 27	288					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(2)|large_intestine(4)|lung(20)|skin(3)|stomach(1)	32	all_cancers(71;1.15e-05)|all_epithelial(71;5.29e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.089)|Lung NSC(105;0.0969)|Melanoma(84;0.199)	all_cancers(173;0.237)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GGCTGTAAATGAGTGGATTGA	0.483													10	19					0	0	1	0	0	C	248813322	G	C	248813322	2	2	468	1	0	0	0	0	0	0	0	1	11069	1277	45	5		5	OR2T27	1	248813322	Silent	SNP	G	TCGA-TM-A84J-01A-11D-A36O-08	1490322	248813322	437299	9	36550											
CEP68	23177	broad.mit.edu	37	2	65299194	65299194	+	Missense_Mutation	SNP	C	C	T			TCGA-TM-A84J-01A-11D-A36O-08	TCGA-TM-A84J-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4929553-67d7-45f4-ab30-e8218b0fe697	7a11066b-492d-4df1-8136-7bd2739786ba	g.chr2:65299194C>T	ENST00000377990.2	+	3	1167	c.964C>T	c.(964-966)Cgt>Tgt	p.R322C	CEP68_ENST00000497039.1_3'UTR|CEP68_ENST00000260569.4_Missense_Mutation_p.R322C|CEP68_ENST00000546106.1_Missense_Mutation_p.R322C|CEP68_ENST00000537589.1_5'UTR|RAB1A_ENST00000494188.1_Intron	NM_015147.2	NP_055962.2	Q76N32	CEP68_HUMAN	centrosomal protein 68kDa	322					centrosome organization	centrosome				breast(1)|endometrium(6)|kidney(8)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32						CCTTGATAGCCGTGTGCCAGC	0.547													20	74					0	0	1	0	0	T	65299194	C	T	65299194	3	4	468	1	0	0	0	0	1	0	0	0	3280	652	23	1	970	1	CEP68	2	65299194	Missense_Mutation	SNP	C	TCGA-TM-A84J-01A-11D-A36O-08		65299194	177900179	10	36551											
GGCX	2677	broad.mit.edu	37	2	85780433	85780433	+	Silent	SNP	G	G	A			TCGA-TM-A84J-01A-11D-A36O-08	TCGA-TM-A84J-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4929553-67d7-45f4-ab30-e8218b0fe697	7a11066b-492d-4df1-8136-7bd2739786ba	g.chr2:85780433G>A	ENST00000233838.4	-	8	1157	c.1077C>T	c.(1075-1077)cgC>cgT	p.R359R	GGCX_ENST00000430215.3_Silent_p.R302R|GGCX_ENST00000473665.1_5'UTR	NM_000821.5	NP_000812.2	P38435	VKGC_HUMAN	gamma-glutamyl carboxylase						blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification	endoplasmic reticulum membrane|integral to membrane|membrane fraction	gamma-glutamyl carboxylase activity			endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|stomach(1)|urinary_tract(2)	15					Anisindione(DB01125)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Drotrecogin alfa(DB00055)|L-Glutamic Acid(DB00142)|Menadione(DB00170)|Phytonadione(DB01022)	CCAGCTGATGGCGCAGCCCTG	0.577													17	105					0	0	1	0	0	A	85780433	G	A	85780433	2	1	468	1	0	0	0	0	0	0	0	1	6398	1190	42	2		2	GGCX	2	85780433	Silent	SNP	G	TCGA-TM-A84J-01A-11D-A36O-08	20481239	85780433	157418940	11	36552											
LRP2	4036	broad.mit.edu	37	2	170031819	170031819	+	Missense_Mutation	SNP	C	C	T			TCGA-TM-A84J-01A-11D-A36O-08	TCGA-TM-A84J-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4929553-67d7-45f4-ab30-e8218b0fe697	7a11066b-492d-4df1-8136-7bd2739786ba	g.chr2:170031819C>T	ENST00000263816.3	-	55	10937	c.10652G>A	c.(10651-10653)cGc>cAc	p.R3551H		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	3551	LDL-receptor class A 27.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	p.R3551H(2)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	TCGGCAGAAGCGCTGCGGGCA	0.532													28	25					0	0	1	0	0	T	170031819	C	T	170031819	3	4	468	1	0	0	0	0	1	0	0	0	9001	768	27	1	3415	1	LRP2	2	170031819	Missense_Mutation	SNP	C	TCGA-TM-A84J-01A-11D-A36O-08	84251386	170031819	73167554	12	36553											
GLB1L	79411	broad.mit.edu	37	2	220108252	220108252	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A84J-01A-11D-A36O-08	TCGA-TM-A84J-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4929553-67d7-45f4-ab30-e8218b0fe697	7a11066b-492d-4df1-8136-7bd2739786ba	g.chr2:220108252G>A	ENST00000295759.7	-	2	357	c.44C>T	c.(43-45)cCg>cTg	p.P15L	GLB1L_ENST00000409640.1_Missense_Mutation_p.P15L|GLB1L_ENST00000392089.2_Missense_Mutation_p.P15L|GLB1L_ENST00000356283.3_Missense_Mutation_p.P15L			Q6UWU2	GLB1L_HUMAN	galactosidase, beta 1-like	15					carbohydrate metabolic process	extracellular region	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22		all_lung(227;1.19e-05)|Lung NSC(271;2.76e-05)|Medulloblastoma(418;0.0208)|Esophageal squamous(248;0.0559)		Epithelial(149;1.3e-11)|all cancers(144;2.07e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CAGGCTGAGCGGCAGCAGCAG	0.612													12	36					0	0	1	0	0	A	220108252	G	A	220108252	3	1	468	1	0	0	0	0	1	0	0	0	6470	1116	39	1	1984	1	GLB1L	2	220108252	Missense_Mutation	SNP	G	TCGA-TM-A84J-01A-11D-A36O-08	50076433	220108252	23091121	13	36554											
UBE2F	140739	broad.mit.edu	37	2	238925257	238925257	+	Silent	SNP	C	C	T			TCGA-TM-A84J-01A-11D-A36O-08	TCGA-TM-A84J-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4929553-67d7-45f4-ab30-e8218b0fe697	7a11066b-492d-4df1-8136-7bd2739786ba	g.chr2:238925257C>T	ENST00000272930.4	+	5	458	c.264C>T	c.(262-264)ccC>ccT	p.P88P	UBE2F_ENST00000409953.1_Silent_p.P64P|UBE2F_ENST00000409332.1_Silent_p.P66P|UBE2F-SCLY_ENST00000449191.1_Silent_p.P88P|UBE2F_ENST00000409633.1_Silent_p.P88P|UBE2F_ENST00000414443.1_Silent_p.P56P	NM_001278305.1|NM_080678.2	NP_001265234.1|NP_542409.1	Q969M7	UBE2F_HUMAN	ubiquitin-conjugating enzyme E2F (putative)	88					protein neddylation		ATP binding|NEDD8 ligase activity|protein binding			endometrium(1)|large_intestine(1)	2		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;6.7e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|Kidney(56;3.53e-09)|KIRC - Kidney renal clear cell carcinoma(57;9.79e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000136)|Lung(119;0.0126)|LUSC - Lung squamous cell carcinoma(224;0.0301)		CTGAAGTTCCCGATGCGTACA	0.458													16	116					0	0	1	0	0	T	238925257	C	T	238925257	2	4	468	1	0	0	0	0	0	0	0	1	16916	639	23	1		1	UBE2F	2	238925257	Silent	SNP	C	TCGA-TM-A84J-01A-11D-A36O-08	18817005	238925257	4274116	14	36555											
NISCH	11188	broad.mit.edu	37	3	52525405	52525405	+	Silent	SNP	G	G	T			TCGA-TM-A84J-01A-11D-A36O-08	TCGA-TM-A84J-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4929553-67d7-45f4-ab30-e8218b0fe697	7a11066b-492d-4df1-8136-7bd2739786ba	g.chr3:52525405G>T	ENST00000345716.4	+	20	3914	c.3780G>T	c.(3778-3780)cgG>cgT	p.R1260R	NISCH_ENST00000479054.1_Silent_p.R1260R	NM_007184.3	NP_009115	Q9Y2I1	NISCH_HUMAN	nischarin	1260					apoptosis|cell communication	cytosol|early endosome|plasma membrane|recycling endosome	phosphatidylinositol binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)		GCTTGACGCGGGACAGCTACC	0.647													6	27					3.59834e-05	3.64568e-05	1	1	0	T	52525405	G	T	52525405	2	4	468	1	0	0	0	0	0	0	0	1	10479	1219	43	5		5	NISCH	3	52525405	Silent	SNP	G	TCGA-TM-A84J-01A-11D-A36O-08		52525405	145497025	15	36556											
MAGI1	9223	broad.mit.edu	37	3	65376868	65376868	+	Missense_Mutation	SNP	G	G	T			TCGA-TM-A84J-01A-11D-A36O-08	TCGA-TM-A84J-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4929553-67d7-45f4-ab30-e8218b0fe697	7a11066b-492d-4df1-8136-7bd2739786ba	g.chr3:65376868G>T	ENST00000330909.8	-	14	2364	c.2365C>A	c.(2365-2367)Cca>Aca	p.P789T	MAGI1_ENST00000483466.1_Missense_Mutation_p.P789T|MAGI1_ENST00000402939.2_Missense_Mutation_p.P789T|MAGI1_ENST00000497477.2_Missense_Mutation_p.P789T	NM_015520.1	NP_056335.1	Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	789					cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding	p.P789T(2)		breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		AAAGGATCTGGTTTTTTCTGG	0.567													9	79					0.000274275	0.000274275	1	1	0	T	65376868	G	T	65376868	3	4	468	1	0	0	0	0	1	0	0	0	9240	1261	44	5	2297	5	MAGI1	3	65376868	Missense_Mutation	SNP	G	TCGA-TM-A84J-01A-11D-A36O-08	12851463	65376868	132645562	16	36557											
FAM114A1	92689	broad.mit.edu	37	4	38893436	38893436	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A84J-01A-11D-A36O-08	TCGA-TM-A84J-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4929553-67d7-45f4-ab30-e8218b0fe697	7a11066b-492d-4df1-8136-7bd2739786ba	g.chr4:38893436G>A	ENST00000358869.2	+	4	597	c.421G>A	c.(421-423)Gca>Aca	p.A141T	FAM114A1_ENST00000515037.1_5'UTR	NM_138389.2	NP_612398.2	Q8IWE2	NXP20_HUMAN	family with sequence similarity 114, member A1	141						cytoplasm				haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	20						GCTGTCGTCAGCATCTGCCAC	0.473													21	30					0	0	1	0	0	A	38893436	G	A	38893436	3	1	468	1	0	0	0	0	1	0	0	0	5434	971	34	2	427	2	FAM114A1	4	38893436	Missense_Mutation	SNP	G	TCGA-TM-A84J-01A-11D-A36O-08		38893436	152260840	17	36558											
DCHS2	54798	broad.mit.edu	37	4	155180800	155180800	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A84J-01A-11D-A36O-08	TCGA-TM-A84J-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4929553-67d7-45f4-ab30-e8218b0fe697	7a11066b-492d-4df1-8136-7bd2739786ba	g.chr4:155180800G>A	ENST00000357232.4	-	20	5320	c.5321C>T	c.(5320-5322)gCa>gTa	p.A1774V		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2		Cadherin 15.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		TATCAAGACTGCTACTTTGCA	0.393													21	67					0	0	1	0	0	A	155180800	G	A	155180800	3	1	468	1	0	0	0	0	1	0	0	0	4311	1319	46	2	3453	2	DCHS2	4	155180800	Missense_Mutation	SNP	G	TCGA-TM-A84J-01A-11D-A36O-08	116287364	155180800	35973476	18	36559											
PCDHAC1	56135	broad.mit.edu	37	5	140307730	140307730	+	Missense_Mutation	SNP	C	C	T			TCGA-TM-A84J-01A-11D-A36O-08	TCGA-TM-A84J-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4929553-67d7-45f4-ab30-e8218b0fe697	7a11066b-492d-4df1-8136-7bd2739786ba	g.chr5:140307730C>T	ENST00000253807.2	+	1	1253	c.1253C>T	c.(1252-1254)tCa>tTa	p.S418L	PCDHA5_ENST00000529859.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHAC1_ENST00000409700.3_Missense_Mutation_p.S418L|PCDHA11_ENST00000398640.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000531613.1_Intron	NM_018898.3	NP_061721.2														NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	65			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATCACGGCCTCAGATAGTGGC	0.517													19	46					0	0	1	0	0	T	140307730	C	T	140307730	3	4	468	1	0	0	0	0	1	0	0	0	11579	838	29	2	1255	2	PCDHAC1	5	140307730	Missense_Mutation	SNP	C	TCGA-TM-A84J-01A-11D-A36O-08		140307730	40607530	19	36560											
NDST1	3340	broad.mit.edu	37	5	149915331	149915331	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A84J-01A-11D-A36O-08	TCGA-TM-A84J-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4929553-67d7-45f4-ab30-e8218b0fe697	7a11066b-492d-4df1-8136-7bd2739786ba	g.chr5:149915331G>A	ENST00000261797.6	+	6	1823	c.1321G>A	c.(1321-1323)Gtg>Atg	p.V441M	NDST1_ENST00000523767.1_Missense_Mutation_p.V441M	NM_001543.4	NP_001534.1	P52848	NDST1_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1	441	Heparan sulfate N-deacetylase 1.				heparan sulfate proteoglycan biosynthetic process|inflammatory response	Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	34		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCCCGTGCACGTGCAGCTGTA	0.647													12	22					0	0	1	0	0	A	149915331	G	A	149915331	3	1	468	1	0	0	0	0	1	0	0	0	10302	1145	40	1	1339	1	NDST1	5	149915331	Missense_Mutation	SNP	G	TCGA-TM-A84J-01A-11D-A36O-08	9607601	149915331	30999929	20	36561											
AMZ1	155185	broad.mit.edu	37	7	2752024	2752024	+	Missense_Mutation	SNP	C	C	T			TCGA-TM-A84J-01A-11D-A36O-08	TCGA-TM-A84J-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4929553-67d7-45f4-ab30-e8218b0fe697	7a11066b-492d-4df1-8136-7bd2739786ba	g.chr7:2752024C>T	ENST00000312371.4	+	7	1377	c.1009C>T	c.(1009-1011)Ccg>Tcg	p.P337S	AMZ1_ENST00000489665.1_Intron|AMZ1_ENST00000407112.1_Missense_Mutation_p.A280V	NM_133463.1	NP_597720.1	Q400G9	AMZ1_HUMAN	archaelysin family metallopeptidase 1	337							metallopeptidase activity|zinc ion binding			breast(2)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	16		Ovarian(82;0.0779)		OV - Ovarian serous cystadenocarcinoma(56;5.03e-14)		GGCGGGGGAGCCGTCAGTGTG	0.672													7	17					0	0	1	0	0	T	2752024	C	T	2752024	3	4	468	1	0	0	0	0	1	0	0	0	592	739	26	2	1031	2	AMZ1	7	2752024	Missense_Mutation	SNP	C	TCGA-TM-A84J-01A-11D-A36O-08		2752024	156386639	21	36562											
ASNS	440	broad.mit.edu	37	7	97482450	97482450	+	Silent	SNP	T	T	C			TCGA-TM-A84J-01A-11D-A36O-08	TCGA-TM-A84J-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4929553-67d7-45f4-ab30-e8218b0fe697	7a11066b-492d-4df1-8136-7bd2739786ba	g.chr7:97482450T>C	ENST00000175506.4	-	13	1926	c.1398A>G	c.(1396-1398)ccA>ccG	p.P466P	ASNS_ENST00000444334.1_Silent_p.P445P|ASNS_ENST00000394308.3_Silent_p.P466P|ASNS_ENST00000394309.3_Silent_p.P466P|ASNS_ENST00000455086.1_Silent_p.P383P|ASNS_ENST00000437628.1_Silent_p.P383P|ASNS_ENST00000422745.1_Silent_p.P445P	NM_183356.3	NP_899199.2	P08243	ASNS_HUMAN	asparagine synthetase (glutamine-hydrolyzing)	466	Asparagine synthetase.				cellular response to glucose starvation|glutamine metabolic process|negative regulation of apoptosis|positive regulation of mitotic cell cycle	cytosol|soluble fraction	asparagine synthase (glutamine-hydrolyzing) activity|ATP binding			ovary(1)	1	all_cancers(62;6.64e-09)|all_epithelial(64;1.58e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0342)|all_lung(186;0.0369)				Adenosine triphosphate(DB00171)|L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	AGGCTTCTTTTGGTCGCCAGA	0.373													13	58					0	0	1	0	0	C	97482450	T	C	97482450	2	2	468	1	0	0	0	0	0	0	0	1	1047	1799	63	3		3	ASNS	7	97482450	Silent	SNP	T	TCGA-TM-A84J-01A-11D-A36O-08	94730426	97482450	61656213	22	36563											
MUC17	140453	broad.mit.edu	37	7	100683876	100683876	+	Missense_Mutation	SNP	T	T	G	rs145514577	byFrequency	TCGA-TM-A84J-01A-11D-A36O-08	TCGA-TM-A84J-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4929553-67d7-45f4-ab30-e8218b0fe697	7a11066b-492d-4df1-8136-7bd2739786ba	g.chr7:100683876T>G	ENST00000306151.4	+	3	9243	c.9179T>G	c.(9178-9180)aTt>aGt	p.I3060S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3060	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CCAGTGGCCATTCCTGAGGCT	0.493													4	242					0	0	1	0	0	G	100683876	T	G	100683876	3	3	468	1	0	0	0	0	1	0	0	0	10022	1493	52	4	9189	4	MUC17	7	100683876	Missense_Mutation	SNP	T	TCGA-TM-A84J-01A-11D-A36O-08	3201426	100683876	58454787	23	36564											
FABP4	2167	broad.mit.edu	37	8	82392665	82392665	+	Missense_Mutation	SNP	A	A	G			TCGA-TM-A84J-01A-11D-A36O-08	TCGA-TM-A84J-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4929553-67d7-45f4-ab30-e8218b0fe697	7a11066b-492d-4df1-8136-7bd2739786ba	g.chr8:82392665A>G	ENST00000256104.4	-	2	337	c.242T>C	c.(241-243)gTc>gCc	p.V81A	FABP4_ENST00000518669.1_5'UTR|RP11-157I4.4_ENST00000524085.2_RNA	NM_001442.2	NP_001433.1	P15090	FABP4_HUMAN	fatty acid binding protein 4, adipocyte	81					triglyceride catabolic process	cytoplasm|nucleus|soluble fraction	fatty acid binding|protein binding|transporter activity			breast(2)|central_nervous_system(1)|large_intestine(1)|ovary(1)|skin(1)	6			Epithelial(68;0.213)			TCTCACCTTGACTTTCCTGTC	0.378													20	85					0	0	1	0	0	G	82392665	A	G	82392665	3	3	468	1	0	0	0	0	1	0	0	0	5390	275	10	3	168	3	FABP4	8	82392665	Missense_Mutation	SNP	A	TCGA-TM-A84J-01A-11D-A36O-08		82392665	63971357	24	36565											
DNM1	1759	broad.mit.edu	37	9	130982298	130982298	+	Frame_Shift_Del	DEL	G	G	-			TCGA-TM-A84J-01A-11D-A36O-08	TCGA-TM-A84J-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4929553-67d7-45f4-ab30-e8218b0fe697	7a11066b-492d-4df1-8136-7bd2739786ba	g.chr9:130982298delG	ENST00000341179.7	+	5	713	c.621delG	c.(619-621)ctgfs	p.L207fs	DNM1_ENST00000475805.1_Frame_Shift_Del_p.L207fs|DNM1_ENST00000372923.3_Frame_Shift_Del_p.L207fs|DNM1_ENST00000486160.1_Frame_Shift_Del_p.L207fs|DNM1_ENST00000393594.3_Frame_Shift_Del_p.L207fs	NM_001005336.1	NP_001005336.1	Q05193	DYN1_HUMAN	dynamin 1	207					receptor-mediated endocytosis	microtubule	GTP binding|GTPase activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(15)|lung(6)|ovary(2)|urinary_tract(2)	32						TCACCAAGCTGGACCTGATGG	0.632													2	4	---	---	---	---						-	130982298	G	-	130982298	7	5	468	1	0	1	0	1	0	0	0	0	4697	1335	47	0	639	0	DNM1	9	130982298	Frame_Shift_Del	DEL	G	TCGA-TM-A84J-01A-11D-A36O-08		130982298	10231133	25	36566											
UPF2	26019	broad.mit.edu	37	10	11990430	11990432	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-TM-A84J-01A-11D-A36O-08	TCGA-TM-A84J-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4929553-67d7-45f4-ab30-e8218b0fe697	7a11066b-492d-4df1-8136-7bd2739786ba	g.chr10:11990430_11990432delCTT	ENST00000356352.2	-	15	3583_3585	c.3110_3112delAAG	c.(3109-3114)gaaggt>ggt	p.E1037del	UPF2_ENST00000357604.5_In_Frame_Del_p.E1037del|UPF2_ENST00000397053.2_In_Frame_Del_p.E1037del			Q9HAU5	RENT2_HUMAN	UPF2 regulator of nonsense transcripts homolog (yeast)	1037	Glu-rich.|Sufficient for interaction with EIF4A1 and EIF1.				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	exon-exon junction complex|perinuclear region of cytoplasm	identical protein binding|RNA binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2)	56		Renal(717;0.228)				tcagccccaccttcttcttcttc	0.374													7	477	---	---	---	---						-	11990432	CTT	-	11990430	7	5	468	1	0	1	0	1	0	0	0	0	17064	681	24	0	734	0	UPF2	10	11990430	In_Frame_Del	DEL	CTT	TCGA-TM-A84J-01A-11D-A36O-08		11990430	123544317	26	36567											
CDC123	8872	broad.mit.edu	37	10	12238313	12238313	+	Missense_Mutation	SNP	C	C	G			TCGA-TM-A84J-01A-11D-A36O-08	TCGA-TM-A84J-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4929553-67d7-45f4-ab30-e8218b0fe697	7a11066b-492d-4df1-8136-7bd2739786ba	g.chr10:12238313C>G	ENST00000281141.4	+	1	349	c.69C>G	c.(67-69)atC>atG	p.I23M	CDC123_ENST00000455773.3_3'UTR|CDC123_ENST00000378900.2_Missense_Mutation_p.I23M	NM_006023.2	NP_006014.2	O75794	CD123_HUMAN	cell division cycle 123	23					cell cycle arrest|cell division|positive regulation of cell proliferation|regulation of mitotic cell cycle	cytoplasm				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12						GCGTTACCATCAAGAGGTGAG	0.567													76	683					0	0	1	0	0	G	12238313	C	G	12238313	3	3	468	1	0	0	0	0	1	0	0	0	3077	816	29	5	71	5	CDC123	10	12238313	Missense_Mutation	SNP	C	TCGA-TM-A84J-01A-11D-A36O-08	247883	12238313	123296434	27	36568											
MYO3A	53904	broad.mit.edu	37	10	26482183	26482183	+	Silent	SNP	C	C	T			TCGA-TM-A84J-01A-11D-A36O-08	TCGA-TM-A84J-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4929553-67d7-45f4-ab30-e8218b0fe697	7a11066b-492d-4df1-8136-7bd2739786ba	g.chr10:26482183C>T	ENST00000265944.5	+	32	4654	c.4488C>T	c.(4486-4488)ccC>ccT	p.P1496P	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	1496					protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						CAAGACGACCCCGGAAACCCA	0.378													13	32					0	0	1	0	0	T	26482183	C	T	26482183	2	4	468	1	0	0	0	0	0	0	0	1	10124	610	22	2		2	MYO3A	10	26482183	Silent	SNP	C	TCGA-TM-A84J-01A-11D-A36O-08	14243870	26482183	109052564	28	36569											
DNAJC12	56521	broad.mit.edu	37	10	69571296	69571296	+	Missense_Mutation	SNP	C	C	G			TCGA-TM-A84J-01A-11D-A36O-08	TCGA-TM-A84J-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4929553-67d7-45f4-ab30-e8218b0fe697	7a11066b-492d-4df1-8136-7bd2739786ba	g.chr10:69571296C>G	ENST00000225171.2	-	3	435	c.283G>C	c.(283-285)Gac>Cac	p.D95H	DNAJC12_ENST00000339758.7_Missense_Mutation_p.D95H|DNAJC12_ENST00000483798.2_Missense_Mutation_p.D125H	NM_021800.2	NP_068572.1	Q9UKB3	DJC12_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 12	95					protein folding		heat shock protein binding|unfolded protein binding			breast(2)|kidney(2)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	12						TTCACTGAGTCATTCAAAGCT	0.502													20	57					0	0	1	0	0	G	69571296	C	G	69571296	3	3	468	1	0	0	0	0	1	0	0	0	4658	826	29	5	352	5	DNAJC12	10	69571296	Missense_Mutation	SNP	C	TCGA-TM-A84J-01A-11D-A36O-08	43089113	69571296	65963451	29	36570											
PKD2L1	9033	broad.mit.edu	37	10	102057259	102057259	+	Missense_Mutation	SNP	T	T	C			TCGA-TM-A84J-01A-11D-A36O-08	TCGA-TM-A84J-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4929553-67d7-45f4-ab30-e8218b0fe697	7a11066b-492d-4df1-8136-7bd2739786ba	g.chr10:102057259T>C	ENST00000318222.3	-	5	1218	c.836A>G	c.(835-837)cAg>cGg	p.Q279R	PKD2L1_ENST00000338519.3_Intron|PKD2L1_ENST00000353274.3_Missense_Mutation_p.Q279R	NM_001253837.1|NM_016112.2	NP_001240766.1|NP_057196.2	Q9P0L9	PK2L1_HUMAN	polycystic kidney disease 2-like 1	279					signal transduction	integral to membrane	calcium activated cation channel activity|calcium ion binding|cytoskeletal protein binding			NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	43		Colorectal(252;0.117)		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)		TGCACTACCCTGTCGGGATCC	0.597													11	1149					0	0	1	0	0	C	102057259	T	C	102057259	3	2	468	1	0	0	0	0	1	0	0	0	12015	1580	55	3	1629	3	PKD2L1	10	102057259	Missense_Mutation	SNP	T	TCGA-TM-A84J-01A-11D-A36O-08	32485963	102057259	33477488	30	36571											
DUSP5	1847	broad.mit.edu	37	10	112262511	112262512	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-TM-A84J-01A-11D-A36O-08	TCGA-TM-A84J-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4929553-67d7-45f4-ab30-e8218b0fe697	7a11066b-492d-4df1-8136-7bd2739786ba	g.chr10:112262511_112262512delGA	ENST00000369583.3	+	2	696_697	c.412_413delGA	c.(412-414)gagfs	p.E138fs	DUSP5_ENST00000468749.1_3'UTR	NM_004419.3	NP_004410.3	Q16690	DUS5_HUMAN	dual specificity phosphatase 5	138	Rhodanese.				endoderm formation|inactivation of MAPK activity	nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			kidney(2)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	13		Breast(234;0.0848)		Epithelial(162;0.000276)|all cancers(201;0.00465)|BRCA - Breast invasive adenocarcinoma(275;0.12)		GGAATATCCTGAGTGTTGCGTG	0.431													55	37	---	---	---	---						-	112262512	GA	-	112262511	7	5	468	1	0	1	0	1	0	0	0	0	4854	1291	45	0	418	0	DUSP5	10	112262511	Frame_Shift_Del	DEL	GA	TCGA-TM-A84J-01A-11D-A36O-08	10205252	112262511	23272236	31	36572											
FAM76B	143684	broad.mit.edu	37	11	95512069	95512069	+	Missense_Mutation	SNP	T	T	C			TCGA-TM-A84J-01A-11D-A36O-08	TCGA-TM-A84J-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4929553-67d7-45f4-ab30-e8218b0fe697	7a11066b-492d-4df1-8136-7bd2739786ba	g.chr11:95512069T>C	ENST00000358780.5	-	8	1057	c.745A>G	c.(745-747)Ata>Gta	p.I249V	FAM76B_ENST00000536839.1_Missense_Mutation_p.I248V	NM_144664.4	NP_653265.3	Q5HYJ3	FA76B_HUMAN	family with sequence similarity 76, member B	249										breast(1)|kidney(1)|lung(1)	3		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				AATTGACTTATAAGGACAAAA	0.333													23	43					0	0	1	0	0	C	95512069	T	C	95512069	3	2	468	1	0	0	0	0	1	0	0	0	5657	1406	49	3	286	3	FAM76B	11	95512069	Missense_Mutation	SNP	T	TCGA-TM-A84J-01A-11D-A36O-08		95512069	39494447	32	36573											
ATM	472	broad.mit.edu	37	11	108158380	108158382	+	In_Frame_Del	DEL	GAC	GAC	-			TCGA-TM-A84J-01A-11D-A36O-08	TCGA-TM-A84J-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4929553-67d7-45f4-ab30-e8218b0fe697	7a11066b-492d-4df1-8136-7bd2739786ba	g.chr11:108158380_108158382delGAC	ENST00000278616.4	+	27	4432_4434	c.4047_4049delGAC	c.(4045-4050)atgacg>atg	p.T1350del	ATM_ENST00000452508.2_In_Frame_Del_p.T1350del	NM_000051.3	NP_000042	Q13315	ATM_HUMAN	ataxia telangiectasia mutated	1350					cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		AGTTATTGATGACGTTACATGAG	0.345			"D, Mis, N, F, S"		T-PLL	"leukemia, lymphoma, medulloblastoma, glioma"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			71	7	---	---	---	---						-	108158382	GAC	-	108158380	7	5	468	1	0	1	0	1	0	0	0	0	1108	1290	45	0	4149	0	ATM	11	108158380	In_Frame_Del	DEL	GAC	TCGA-TM-A84J-01A-11D-A36O-08	12646311	108158380	26848136	33	36574											
NCAPD3	23310	broad.mit.edu	37	11	134080162	134080162	+	Splice_Site	SNP	A	A	C			TCGA-TM-A84J-01A-11D-A36O-08	TCGA-TM-A84J-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4929553-67d7-45f4-ab30-e8218b0fe697	7a11066b-492d-4df1-8136-7bd2739786ba	g.chr11:134080162A>C	ENST00000534548.2	-	4	632		c.e4+1			NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3						cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		CTTACTTCTTACCTCAATATC	0.383													31	66					0	0	1	0	0	C	134080162	A	C	134080162	5	2	468	1	0	0	0	0	0	0	1	0	10253	405	14	5	4055	5	NCAPD3	11	134080162	Splice_Site	SNP	A	TCGA-TM-A84J-01A-11D-A36O-08	25921782	134080162	926354	34	36575											
CD163L1	283316	broad.mit.edu	37	12	7522052	7522052	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A84J-01A-11D-A36O-08	TCGA-TM-A84J-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4929553-67d7-45f4-ab30-e8218b0fe697	7a11066b-492d-4df1-8136-7bd2739786ba	g.chr12:7522052G>A	ENST00000313599.3	-	15	3997	c.3940C>T	c.(3940-3942)Cgg>Tgg	p.R1314W	CD163L1_ENST00000416109.2_Missense_Mutation_p.R1324W|CD163L1_ENST00000396630.1_Missense_Mutation_p.R1314W			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	1314	SRCR 12.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						CCTTTGCACCGCATGTCATCC	0.572													4	120					0	0	1	0	0	A	7522052	G	A	7522052	3	1	468	1	0	0	0	0	1	0	0	0	2990	1086	38	1	441	1	CD163L1	12	7522052	Missense_Mutation	SNP	G	TCGA-TM-A84J-01A-11D-A36O-08		7522052	126329843	35	36576											
AQP2	359	broad.mit.edu	37	12	50349300	50349300	+	Missense_Mutation	SNP	C	C	T			TCGA-TM-A84J-01A-11D-A36O-08	TCGA-TM-A84J-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4929553-67d7-45f4-ab30-e8218b0fe697	7a11066b-492d-4df1-8136-7bd2739786ba	g.chr12:50349300C>T	ENST00000199280.3	+	4	810	c.725C>T	c.(724-726)cCg>cTg	p.P242L	RP11-469H8.6_ENST00000552379.1_RNA|RP11-469H8.8_ENST00000552806.1_RNA|RP11-469H8.6_ENST00000550530.1_RNA	NM_000486.5	NP_000477.1	P41181	AQP2_HUMAN	aquaporin 2 (collecting duct)	242					cellular response to copper ion|cellular response to mercury ion|excretion	apical plasma membrane|integral to membrane|transport vesicle membrane	glycerol transmembrane transporter activity|water channel activity			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(4)|ovary(2)	10						GGCCTGGAGCCGGACACCGAT	0.692													8	13					0	0	1	0	0	T	50349300	C	T	50349300	3	4	468	1	0	0	0	0	1	0	0	0	823	652	23	1	739	1	AQP2	12	50349300	Missense_Mutation	SNP	C	TCGA-TM-A84J-01A-11D-A36O-08	42827248	50349300	83502595	36	36577											
C12orf42	374470	broad.mit.edu	37	12	103700000	103700000	+	Missense_Mutation	SNP	C	C	T			TCGA-TM-A84J-01A-11D-A36O-08	TCGA-TM-A84J-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4929553-67d7-45f4-ab30-e8218b0fe697	7a11066b-492d-4df1-8136-7bd2739786ba	g.chr12:103700000C>T	ENST00000548048.1	-	8	678	c.182G>A	c.(181-183)cGt>cAt	p.R61H	C12orf42_ENST00000548789.1_5'UTR|C12orf42_ENST00000315192.8_Intron|C12orf42_ENST00000378113.2_Missense_Mutation_p.R128H|C12orf42_ENST00000548883.1_Missense_Mutation_p.R128H			Q96LP6	CL042_HUMAN	chromosome 12 open reading frame 42	128								p.R128H(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)	22						TGGAGAGGAACGGAATTCTTC	0.468													11	24					0	0	1	0	0	T	103700000	C	T	103700000	3	4	468	1	0	0	0	0	1	0	0	0	1694	536	19	1	707	1	C12orf42	12	103700000	Missense_Mutation	SNP	C	TCGA-TM-A84J-01A-11D-A36O-08	53350700	103700000	30151895	37	36578											
TDP1	55775	broad.mit.edu	37	14	90509453	90509453	+	Missense_Mutation	SNP	C	C	T	rs113382706		TCGA-TM-A84J-01A-11D-A36O-08	TCGA-TM-A84J-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4929553-67d7-45f4-ab30-e8218b0fe697	7a11066b-492d-4df1-8136-7bd2739786ba	g.chr14:90509453C>T	ENST00000335725.4	+	17	2043	c.1793C>T	c.(1792-1794)cCg>cTg	p.P598L	TDP1_ENST00000393452.3_3'UTR|TDP1_ENST00000555880.1_Missense_Mutation_p.R562W|TDP1_ENST00000393454.2_Missense_Mutation_p.P598L|TDP1_ENST00000357382.3_Missense_Mutation_p.P359L	NM_018319.3	NP_060789.2	Q9NUW8	TYDP1_HUMAN	tyrosyl-DNA phosphodiesterase 1	598					cell death|double-strand break repair|single strand break repair	cytoplasm|nucleus	3'-tyrosyl-DNA phosphodiesterase activity|double-stranded DNA binding|exonuclease activity|protein binding|single-stranded DNA binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|urinary_tract(1)	25		all_cancers(154;0.185)		COAD - Colon adenocarcinoma(157;0.23)		GTCAAAGCACCGGATACGCAT	0.423								Repair of DNA-protein crosslinks					10	34					0	0	1	0	0	T	90509453	C	T	90509453	3	4	468	1	0	0	0	0	1	0	0	0	15787	652	23	1	1851	1	TDP1	14	90509453	Missense_Mutation	SNP	C	TCGA-TM-A84J-01A-11D-A36O-08		90509453	16840087	38	36579											
DENND4A	10260	broad.mit.edu	37	15	65960387	65960387	+	Missense_Mutation	SNP	G	G	C			TCGA-TM-A84J-01A-11D-A36O-08	TCGA-TM-A84J-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4929553-67d7-45f4-ab30-e8218b0fe697	7a11066b-492d-4df1-8136-7bd2739786ba	g.chr15:65960387G>C	ENST00000443035.3	-	28	5074	c.4859C>G	c.(4858-4860)tCt>tGt	p.S1620C	DENND4A_ENST00000431932.2_Missense_Mutation_p.S1577C	NM_001144823.1	NP_001138295.1	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A	1577					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						TGGACATTTAGACATAGCTGT	0.398													30	22					0	0	1	0	0	C	65960387	G	C	65960387	3	2	468	1	0	0	0	0	1	0	0	0	4461	942	33	4	885	4	DENND4A	15	65960387	Missense_Mutation	SNP	G	TCGA-TM-A84J-01A-11D-A36O-08		65960387	36571005	39	36580											
ABCA3	21	broad.mit.edu	37	16	2338249	2338249	+	Missense_Mutation	SNP	C	C	A			TCGA-TM-A84J-01A-11D-A36O-08	TCGA-TM-A84J-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4929553-67d7-45f4-ab30-e8218b0fe697	7a11066b-492d-4df1-8136-7bd2739786ba	g.chr16:2338249C>A	ENST00000301732.5	-	21	3482	c.2782G>T	c.(2782-2784)Gca>Tca	p.A928S	ABCA3_ENST00000382381.3_Missense_Mutation_p.A870S	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	928					response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)				AGGACCTGTGCCGCCACCATT	0.637													5	14					2.0095e-06	2.06308e-06	1	1	0	A	2338249	C	A	2338249	3	1	468	1	0	0	0	0	1	0	0	0	33	739	26	5	2384	5	ABCA3	16	2338249	Missense_Mutation	SNP	C	TCGA-TM-A84J-01A-11D-A36O-08		2338249	88016504	40	36581											
TRPV1	7442	broad.mit.edu	37	17	3491593	3491593	+	Silent	SNP	G	G	A			TCGA-TM-A84J-01A-11D-A36O-08	TCGA-TM-A84J-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4929553-67d7-45f4-ab30-e8218b0fe697	7a11066b-492d-4df1-8136-7bd2739786ba	g.chr17:3491593G>A	ENST00000174621.6	-	6	1396	c.1107C>T	c.(1105-1107)acC>acT	p.T369T	TRPV1_ENST00000571088.1_Silent_p.T371T|TRPV1_ENST00000576351.1_Silent_p.T371T|SHPK_ENST00000572705.1_Silent_p.T371T|TRPV1_ENST00000399756.4_Silent_p.T371T|TRPV1_ENST00000425167.2_Silent_p.T382T|TRPV1_ENST00000310522.5_Intron|TRPV1_ENST00000399759.3_Silent_p.T371T			Q8NER1	TRPV1_HUMAN	transient receptor potential cation channel, subfamily V, member 1	371					cell surface receptor linked signaling pathway|chemosensory behavior|thermoception	cell junction|dendritic spine membrane|integral to plasma membrane|postsynaptic membrane	ATP binding|calcium channel activity|calmodulin binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	17				Lung(1;0.055)|COAD - Colon adenocarcinoma(5;0.0896)|LUAD - Lung adenocarcinoma(1115;0.131)	Alpha-Linolenic Acid(DB00132)|Aspartame(DB00168)|Icosapent(DB00159)	AGGCCCACTCGGTGAACTTCC	0.637													5	3					0	0	1	0	0	A	3491593	G	A	3491593	2	1	468	1	0	0	0	0	0	0	0	1	16656	1103	39	1		1	TRPV1	17	3491593	Silent	SNP	G	TCGA-TM-A84J-01A-11D-A36O-08		3491593	77703617	41	36582											
TP53	7157	broad.mit.edu	37	17	7578458	7578458	+	Missense_Mutation	SNP	G	G	T			TCGA-TM-A84J-01A-11D-A36O-08	TCGA-TM-A84J-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4929553-67d7-45f4-ab30-e8218b0fe697	7a11066b-492d-4df1-8136-7bd2739786ba	g.chr17:7578458G>T	ENST00000420246.2	-	5	604	c.472C>A	c.(472-474)Cgc>Agc	p.R158S	TP53_ENST00000269305.4_Missense_Mutation_p.R158S|TP53_ENST00000455263.2_Missense_Mutation_p.R158S|TP53_ENST00000359597.4_Missense_Mutation_p.R158S|TP53_ENST00000445888.2_Missense_Mutation_p.R158S|TP53_ENST00000413465.2_Missense_Mutation_p.R158S	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	158	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> C (in sporadic cancers; somatic mutation).|R -> F (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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.R158C(17)|p.R158G(16)|p.0?(8)|p.R158fs(6)|p.R158fs*12(6)|p.R158fs*11(6)|p.R65fs(2)|p.R65G(2)|p.R158_A159delRA(2)|p.R156_I162delRVRAMAI(2)|p.R26G(2)|p.V157fs*9(2)|p.P153fs*22(2)|p.R26fs(2)|p.V157fs*22(2)|p.V157_C176del20(1)|p.R156_A161delRVRAMA(1)|p.R158F(1)|p.P151_V173del23(1)|p.R158fs*24(1)|p.R156_R158delRVR(1)|p.R156fs*18(1)|p.R26fs*11(1)|p.R156_A161del(1)|p.V157_M160delVRAM(1)|p.R156fs*12(1)|p.V157_R158delVR(1)|p.S149fs*72(1)|p.A159fs*21(1)|p.T155_A161delTRVRAMA(1)|p.G154fs*22(1)|p.R65fs*11(1)|p.R156fs*20(1)|p.V157_I162delVRAMAI(1)|p.V157fs*21(1)|p.R158fs*8(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)		GCCATGGCGCGGACGCGGGTG	0.622		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)			29	3					3.90053e-15	4.11425e-15	1	1	0	T	7578458	G	T	7578458	3	4	468	1	0	0	0	0	1	0	0	0	16442	1116	39	5	826	5	TP53	17	7578458	Missense_Mutation	SNP	G	TCGA-TM-A84J-01A-11D-A36O-08	4086865	7578458	73616752	42	36583											
DNAH9	1770	broad.mit.edu	37	17	11835397	11835397	+	Missense_Mutation	SNP	C	C	T			TCGA-TM-A84J-01A-11D-A36O-08	TCGA-TM-A84J-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4929553-67d7-45f4-ab30-e8218b0fe697	7a11066b-492d-4df1-8136-7bd2739786ba	g.chr17:11835397C>T	ENST00000262442.4	+	64	12240	c.12172C>T	c.(12172-12174)Cat>Tat	p.H4058Y	DNAH9_ENST00000608377.1_Missense_Mutation_p.H370Y|DNAH9_ENST00000454412.2_Missense_Mutation_p.H3982Y|DNAH9_ENST00000396001.2_3'UTR	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9		AAA 6 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TTGTTACTTCCATGCGGTGGT	0.483													54	192					0	0	1	0	0	T	11835397	C	T	11835397	3	4	468	1	0	0	0	0	1	0	0	0	4635	594	21	2	12426	2	DNAH9	17	11835397	Missense_Mutation	SNP	C	TCGA-TM-A84J-01A-11D-A36O-08	4256939	11835397	69359813	43	36584											
FBXO47	494188	broad.mit.edu	37	17	37118156	37118156	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A84J-01A-11D-A36O-08	TCGA-TM-A84J-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4929553-67d7-45f4-ab30-e8218b0fe697	7a11066b-492d-4df1-8136-7bd2739786ba	g.chr17:37118156G>A	ENST00000378079.2	-	3	525	c.326C>T	c.(325-327)gCt>gTt	p.A109V		NM_001008777.2	NP_001008777.2	Q5MNV8	FBX47_HUMAN	F-box protein 47	109								p.A109V(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)	20						CTCCAGTATAGCAGAGTCTTG	0.358													40	41					0	0	1	0	0	A	37118156	G	A	37118156	3	1	468	1	0	0	0	0	1	0	0	0	5789	971	34	2	1068	2	FBXO47	17	37118156	Missense_Mutation	SNP	G	TCGA-TM-A84J-01A-11D-A36O-08	25282759	37118156	44077054	44	36585											
MRPL27	51264	broad.mit.edu	37	17	48447454	48447454	+	Missense_Mutation	SNP	T	T	C	rs148980265		TCGA-TM-A84J-01A-11D-A36O-08	TCGA-TM-A84J-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4929553-67d7-45f4-ab30-e8218b0fe697	7a11066b-492d-4df1-8136-7bd2739786ba	g.chr17:48447454T>C	ENST00000442592.3	-	3	215	c.179A>G	c.(178-180)tAt>tGt	p.Y60C	MRPL27_ENST00000511860.1_Missense_Mutation_p.Y5C|MRPL27_ENST00000225969.4_Missense_Mutation_p.Y60C|MRPL27_ENST00000507088.1_Missense_Mutation_p.Y5C|MRPL27_ENST00000503633.1_Missense_Mutation_p.Y60C			Q9P0M9	RM27_HUMAN	mitochondrial ribosomal protein L27	60					translation	mitochondrial large ribosomal subunit	structural constituent of ribosome			endometrium(1)|large_intestine(2)|urinary_tract(1)	4	Breast(11;5.62e-19)		BRCA - Breast invasive adenocarcinoma(22;1.73e-07)			AGCATGAACATAGTGACCTAG	0.527													24	25					0	0	1	0	0	C	48447454	T	C	48447454	3	2	468	1	0	0	0	0	1	0	0	0	9840	1406	49	3	275	3	MRPL27	17	48447454	Missense_Mutation	SNP	T	TCGA-TM-A84J-01A-11D-A36O-08	11329298	48447454	32747756	45	36586											
TANC2	26115	broad.mit.edu	37	17	61483616	61483616	+	Silent	SNP	C	C	T			TCGA-TM-A84J-01A-11D-A36O-08	TCGA-TM-A84J-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4929553-67d7-45f4-ab30-e8218b0fe697	7a11066b-492d-4df1-8136-7bd2739786ba	g.chr17:61483616C>T	ENST00000424789.2	+	19	3349	c.3345C>T	c.(3343-3345)acC>acT	p.T1115T	AC015923.1_ENST00000431604.1_RNA|RP11-269G24.3_ENST00000583552.1_RNA|TANC2_ENST00000389520.4_Silent_p.T1115T	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	1115							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						ATCTAGGAACCGTGGACTTTC	0.502											OREG0024637	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	64	64					0	0	1	0	0	T	61483616	C	T	61483616	2	4	468	1	0	0	0	0	0	0	0	1	15602	639	23	1		1	TANC2	17	61483616	Silent	SNP	C	TCGA-TM-A84J-01A-11D-A36O-08	13036162	61483616	19711594	46	36587											
SIRT7	51547	broad.mit.edu	37	17	79872257	79872257	+	Silent	SNP	C	C	T			TCGA-TM-A84J-01A-11D-A36O-08	TCGA-TM-A84J-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4929553-67d7-45f4-ab30-e8218b0fe697	7a11066b-492d-4df1-8136-7bd2739786ba	g.chr17:79872257C>T	ENST00000328666.6	-	7	791	c.729G>A	c.(727-729)ggG>ggA	p.G243G		NM_016538.2	NP_057622.1	Q9NRC8	SIRT7_HUMAN	sirtuin 7	243	Deacetylase sirtuin-type.				chromatin silencing|positive regulation of transcription on exit from mitosis|protein deacetylation|rRNA transcription	cytoplasm|nucleolus organizer region	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|NAD+ binding|protein binding|zinc ion binding	p.G243G(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.0165)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			GCCCCAACGTCCCCCTCTCCC	0.637													17	22					0	0	1	0	0	T	79872257	C	T	79872257	2	4	468	1	0	0	0	0	0	0	0	1	14398	842	30	2		2	SIRT7	17	79872257	Silent	SNP	C	TCGA-TM-A84J-01A-11D-A36O-08	18388641	79872257	1322953	47	36588											
ABCA7	10347	broad.mit.edu	37	19	1041546	1041546	+	Missense_Mutation	SNP	T	T	C			TCGA-TM-A84J-01A-11D-A36O-08	TCGA-TM-A84J-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4929553-67d7-45f4-ab30-e8218b0fe697	7a11066b-492d-4df1-8136-7bd2739786ba	g.chr19:1041546T>C	ENST00000263094.6	+	3	335	c.104T>C	c.(103-105)cTc>cCc	p.L35P	ABCA7_ENST00000433129.1_Missense_Mutation_p.L35P	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	35					phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity			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)		CCTCTCTTCCTCTTCTTCATC	0.647													13	59					0	0	1	0	0	C	1041546	T	C	1041546	3	2	468	1	0	0	0	0	1	0	0	0	37	1551	54	3	110	3	ABCA7	19	1041546	Missense_Mutation	SNP	T	TCGA-TM-A84J-01A-11D-A36O-08		1041546	58087437	48	36589											
AP3D1	8943	broad.mit.edu	37	19	2129435	2129435	+	Missense_Mutation	SNP	T	T	C			TCGA-TM-A84J-01A-11D-A36O-08	TCGA-TM-A84J-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4929553-67d7-45f4-ab30-e8218b0fe697	7a11066b-492d-4df1-8136-7bd2739786ba	g.chr19:2129435T>C	ENST00000355272.6	-	7	820	c.614A>G	c.(613-615)aAt>aGt	p.N205S	AP3D1_ENST00000356926.4_Intron|AP3D1_ENST00000345016.5_Missense_Mutation_p.N205S|AP3D1_ENST00000350812.6_Intron	NM_001261826.1	NP_001248755.1	O14617	AP3D1_HUMAN	adaptor-related protein complex 3, delta 1 subunit	205					eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport	endosome membrane|Golgi membrane|membrane coat	binding|protein transporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(23)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		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)		GCAGATGACATTGACGGCAGC	0.577													11	28					0	0	1	0	0	C	2129435	T	C	2129435	3	2	468	1	0	0	0	0	1	0	0	0	742	1493	52	3	3101	3	AP3D1	19	2129435	Missense_Mutation	SNP	T	TCGA-TM-A84J-01A-11D-A36O-08	1087889	2129435	56999548	49	36590											
ZNF146	7705	broad.mit.edu	37	19	36727929	36727929	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A84J-01A-11D-A36O-08	TCGA-TM-A84J-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4929553-67d7-45f4-ab30-e8218b0fe697	7a11066b-492d-4df1-8136-7bd2739786ba	g.chr19:36727929G>A	ENST00000456324.1	+	3	2036	c.587G>A	c.(586-588)cGa>cAa	p.R196Q	ZNF146_ENST00000443387.2_Missense_Mutation_p.R196Q|ZNF565_ENST00000355114.5_Intron	NM_001099638.1|NM_001099639.1	NP_001093108.1|NP_001093109.1	Q15072	OZF_HUMAN	zinc finger protein 146	196					regulation of transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|heparin binding|zinc ion binding			kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11	Esophageal squamous(110;0.162)					TTCTCTCAGCGAACATCACTT	0.418													4	99					0	0	1	0	0	A	36727929	G	A	36727929	3	1	468	1	0	0	0	0	1	0	0	0	17791	1058	37	1	589	1	ZNF146	19	36727929	Missense_Mutation	SNP	G	TCGA-TM-A84J-01A-11D-A36O-08	34598494	36727929	22401054	50	36591											
PRR12	57479	broad.mit.edu	37	19	50099877	50099877	+	Missense_Mutation	SNP	A	A	G			TCGA-TM-A84J-01A-11D-A36O-08	TCGA-TM-A84J-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4929553-67d7-45f4-ab30-e8218b0fe697	7a11066b-492d-4df1-8136-7bd2739786ba	g.chr19:50099877A>G	ENST00000418929.2	+	4	2297	c.2285A>G	c.(2284-2286)aAg>aGg	p.K762R		NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN	proline rich 12	470							DNA binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		TTCTTGCAAAAGAGCCCTCCG	0.697													9	13					0	0	1	0	0	G	50099877	A	G	50099877	3	3	468	1	0	0	0	0	1	0	0	0	12636	72	3	3	2299	3	PRR12	19	50099877	Missense_Mutation	SNP	A	TCGA-TM-A84J-01A-11D-A36O-08	13371948	50099877	9029106	51	36592											
ZNF671	79891	broad.mit.edu	37	19	58232671	58232671	+	Silent	SNP	G	G	A			TCGA-TM-A84J-01A-11D-A36O-08	TCGA-TM-A84J-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4929553-67d7-45f4-ab30-e8218b0fe697	7a11066b-492d-4df1-8136-7bd2739786ba	g.chr19:58232671G>A	ENST00000317398.6	-	4	878	c.783C>T	c.(781-783)gcC>gcT	p.A261A	ZNF671_ENST00000335820.3_Silent_p.A163A|AC003006.7_ENST00000599221.1_Intron|AC003006.7_ENST00000594684.1_Intron	NM_024833.2	NP_079109.2	Q8TAW3	ZN671_HUMAN	zinc finger protein 671	261					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(1)|large_intestine(6)|liver(1)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		TGCTGAGAGAGGCCTGATGCT	0.517													12	52					0	0	1	0	0	A	58232671	G	A	58232671	2	1	468	1	0	0	0	0	0	0	0	1	18135	987	35	2		2	ZNF671	19	58232671	Silent	SNP	G	TCGA-TM-A84J-01A-11D-A36O-08	8132794	58232671	896312	52	36593											
ZNF446	55663	broad.mit.edu	37	19	58991631	58991631	+	Frame_Shift_Del	DEL	T	T	-			TCGA-TM-A84J-01A-11D-A36O-08	TCGA-TM-A84J-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4929553-67d7-45f4-ab30-e8218b0fe697	7a11066b-492d-4df1-8136-7bd2739786ba	g.chr19:58991631delT	ENST00000594369.1	+	7	1272	c.891delT	c.(889-891)gctfs	p.A298fs	ZNF446_ENST00000596341.1_Intron|ZNF446_ENST00000335841.4_Frame_Shift_Del_p.L269fs	NM_017908.2	NP_060378.1	Q9NWS9	ZN446_HUMAN	zinc finger protein 446	298	Pro-rich.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	8		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		TGTCTGGGGCTGCCACTCCTG	0.721													3	5	---	---	---	---						-	58991631	T	-	58991631	7	5	468	1	0	1	0	1	0	0	0	0	17976	1567	55	0	913	0	ZNF446	19	58991631	Frame_Shift_Del	DEL	T	TCGA-TM-A84J-01A-11D-A36O-08	758960	58991631	137352	53	36594											
APOL5	80831	broad.mit.edu	37	22	36116679	36116679	+	Silent	SNP	G	G	A			TCGA-TM-A84J-01A-11D-A36O-08	TCGA-TM-A84J-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4929553-67d7-45f4-ab30-e8218b0fe697	7a11066b-492d-4df1-8136-7bd2739786ba	g.chr22:36116679G>A	ENST00000249044.2	+	2	120	c.120G>A	c.(118-120)ggG>ggA	p.G40G		NM_030642.1	NP_085145.1	Q9BWW9	APOL5_HUMAN	apolipoprotein L, 5	40					lipid metabolic process|lipid transport|lipoprotein metabolic process	cytoplasm|extracellular region	high-density lipoprotein particle binding|lipid binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|skin(2)|urinary_tract(1)	19						AGGTCTGGGGGAAGTCCccag	0.512													181	191					0	0	1	0	0	A	36116679	G	A	36116679	2	1	468	1	0	0	0	0	0	0	0	1	806	1161	41	2		2	APOL5	22	36116679	Silent	SNP	G	TCGA-TM-A84J-01A-11D-A36O-08		36116679	15187887	54	36595											
CACNA1I	8911	broad.mit.edu	37	22	40037050	40037050	+	Missense_Mutation	SNP	C	C	T			TCGA-TM-A84J-01A-11D-A36O-08	TCGA-TM-A84J-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4929553-67d7-45f4-ab30-e8218b0fe697	7a11066b-492d-4df1-8136-7bd2739786ba	g.chr22:40037050C>T	ENST00000336649.4	+	8	919	c.919C>T	c.(919-921)Cgc>Tgc	p.R307C	CACNA1I_ENST00000400164.3_Missense_Mutation_p.R307C|CACNA1I_ENST00000407673.1_Missense_Mutation_p.R307C|CACNA1I_ENST00000402142.3_Missense_Mutation_p.R307C|CACNA1I_ENST00000404898.1_Missense_Mutation_p.R307C|CACNA1I_ENST00000401624.1_Missense_Mutation_p.R307C			Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	307					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	TGGGGCGGGGCGCCAGGACCT	0.617													4	101					0	0	1	0	0	T	40037050	C	T	40037050	3	4	468	1	0	0	0	0	1	0	0	0	2564	768	27	1	941	1	CACNA1I	22	40037050	Missense_Mutation	SNP	C	TCGA-TM-A84J-01A-11D-A36O-08	3920371	40037050	11267516	55	36596											
EIF4G3	8672	broad.mit.edu	37	1	21177847	21177847	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A84L-01A-11D-A36O-08	TCGA-TM-A84L-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a012b9-073b-4885-ad00-da8d4ea47ab9	29f12a90-ffa1-4e84-b0a5-e4f88ca43a02	g.chr1:21177847G>A	ENST00000602326.1	-	26	4109	c.3526C>T	c.(3526-3528)Cgg>Tgg	p.R1176W	EIF4G3_ENST00000264211.8_Missense_Mutation_p.R1170W|EIF4G3_ENST00000536266.1_Missense_Mutation_p.R774W|EIF4G3_ENST00000374935.3_Missense_Mutation_p.R890W|EIF4G3_ENST00000374937.3_Missense_Mutation_p.R1176W|EIF4G3_ENST00000400422.1_Missense_Mutation_p.R1170W|EIF4G3_ENST00000537738.1_Missense_Mutation_p.R660W	NM_001198802.1	NP_001185731.1	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	1170					interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|RNA cap binding|translation initiation factor activity			endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		ATCTCTCTCCGCTGCTCTTCT	0.522													4	116					0	0	1	0	0	A	21177847	G	A	21177847	3	1	469	1	0	0	0	0	1	0	0	0	5066	1086	38	1	1289	1	EIF4G3	1	21177847	Missense_Mutation	SNP	G	TCGA-TM-A84L-01A-11D-A36O-08		21177847	228072774	1	36597											
UBXN11	91544	broad.mit.edu	37	1	26629321	26629321	+	Silent	SNP	C	C	T			TCGA-TM-A84L-01A-11D-A36O-08	TCGA-TM-A84L-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a012b9-073b-4885-ad00-da8d4ea47ab9	29f12a90-ffa1-4e84-b0a5-e4f88ca43a02	g.chr1:26629321C>T	ENST00000314675.7	-	2	133	c.54G>A	c.(52-54)tcG>tcA	p.S18S	UBXN11_ENST00000436301.2_Intron|UBXN11_ENST00000535108.1_Intron|UBXN11_ENST00000374217.2_Silent_p.S18S|UBXN11_ENST00000374222.1_Silent_p.S18S|UBXN11_ENST00000357089.4_Silent_p.S18S|UBXN11_ENST00000374221.3_Silent_p.S18S|UBXN11_ENST00000374223.1_Intron	NM_001077262.1	NP_001070730.1	Q5T124	UBX11_HUMAN	UBX domain protein 11	18						cytoplasm|cytoskeleton		p.S18S(1)		endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(3)	23						TCATAGGCTCCGAGGGCAGGG	0.547													16	19					0	0	1	0	0	T	26629321	C	T	26629321	2	4	469	1	0	0	0	0	0	0	0	1	16973	639	23	1		1	UBXN11	1	26629321	Silent	SNP	C	TCGA-TM-A84L-01A-11D-A36O-08	5451474	26629321	222621300	2	36598											
DPH5	51611	broad.mit.edu	37	1	101458271	101458271	+	Missense_Mutation	SNP	G	G	A	rs116634893	by1000genomes	TCGA-TM-A84L-01A-11D-A36O-08	TCGA-TM-A84L-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a012b9-073b-4885-ad00-da8d4ea47ab9	29f12a90-ffa1-4e84-b0a5-e4f88ca43a02	g.chr1:101458271G>A	ENST00000370109.3	-	7	668	c.556C>T	c.(556-558)Cgg>Tgg	p.R186W	DPH5_ENST00000370105.3_5'UTR|DPH5_ENST00000488176.1_Missense_Mutation_p.R186W|DPH5_ENST00000342173.7_Missense_Mutation_p.R186W|DPH5_ENST00000427040.2_Intron	NM_001077394.1|NM_001077395.1|NM_015958.2	NP_001070862.1|NP_001070863.1|NP_057042.2	Q9H2P9	DPH5_HUMAN	diphthamide biosynthesis 5	186					peptidyl-diphthamide biosynthetic process from peptidyl-histidine		diphthine synthase activity			endometrium(2)|large_intestine(1)|lung(4)	7		all_epithelial(167;3.1e-06)|all_lung(203;0.000414)|Lung NSC(277;0.000946)		Epithelial(280;0.0385)|all cancers(265;0.043)|COAD - Colon adenocarcinoma(174;0.151)|Colorectal(144;0.173)|Lung(183;0.198)		CTCATATACCGTGGAGGTTCA	0.418													23	48					0	0	1	0	0	A	101458271	G	A	101458271	3	1	469	1	0	0	0	0	1	0	0	0	4749	1144	40	1	309	1	DPH5	1	101458271	Missense_Mutation	SNP	G	TCGA-TM-A84L-01A-11D-A36O-08	74828950	101458271	147792350	3	36599											
USH2A	7399	broad.mit.edu	37	1	215848559	215848559	+	Missense_Mutation	SNP	G	G	T			TCGA-TM-A84L-01A-11D-A36O-08	TCGA-TM-A84L-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a012b9-073b-4885-ad00-da8d4ea47ab9	29f12a90-ffa1-4e84-b0a5-e4f88ca43a02	g.chr1:215848559G>T	ENST00000366943.2	-	63	13080	c.12694C>A	c.(12694-12696)Cca>Aca	p.P4232T	USH2A_ENST00000307340.3_Missense_Mutation_p.P4232T			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4232	Fibronectin type-III 27.		P -> R (in USH2A).		maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TGCGTCCATGGTTGCAAACCT	0.423										HNSCC(13;0.011)			16	100					4.7546e-09	4.89445e-09	1	1	0	T	215848559	G	T	215848559	3	4	469	1	0	0	0	0	1	0	0	0	17096	1261	44	5	2954	5	USH2A	1	215848559	Missense_Mutation	SNP	G	TCGA-TM-A84L-01A-11D-A36O-08	114390288	215848559	33402062	4	36600											
RAD51AP2	729475	broad.mit.edu	37	2	17697556	17697556	+	Silent	SNP	C	C	T			TCGA-TM-A84L-01A-11D-A36O-08	TCGA-TM-A84L-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a012b9-073b-4885-ad00-da8d4ea47ab9	29f12a90-ffa1-4e84-b0a5-e4f88ca43a02	g.chr2:17697556C>T	ENST00000399080.2	-	1	2150	c.2127G>A	c.(2125-2127)caG>caA	p.Q709Q		NM_001099218.2	NP_001092688.1	Q09MP3	R51A2_HUMAN	RAD51 associated protein 2	709								p.Q709H(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					AACTCATATTCTGACAAGTAA	0.313													4	84					0	0	1	0	0	T	17697556	C	T	17697556	2	4	469	1	0	0	0	0	0	0	0	1	13039	912	32	2		2	RAD51AP2	2	17697556	Silent	SNP	C	TCGA-TM-A84L-01A-11D-A36O-08		17697556	225501817	5	36601											
TTC30B	150737	broad.mit.edu	37	2	178416956	178416956	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A84L-01A-11D-A36O-08	TCGA-TM-A84L-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a012b9-073b-4885-ad00-da8d4ea47ab9	29f12a90-ffa1-4e84-b0a5-e4f88ca43a02	g.chr2:178416956G>A	ENST00000408939.3	-	1	786	c.536C>T	c.(535-537)gCc>gTc	p.A179V		NM_152517.2	NP_689730.2	Q8N4P2	TT30B_HUMAN	tetratricopeptide repeat domain 30B					Missing (in Ref. 1; BAB70953).	cell projection organization	cilium	binding			cervix(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	23			OV - Ovarian serous cystadenocarcinoma(117;0.00151)|Epithelial(96;0.00931)|all cancers(119;0.0362)			CTGCAGGGCGGCAAAAAACTT	0.542													6	147					0	0	1	0	0	A	178416956	G	A	178416956	3	1	469	1	0	0	0	0	1	0	0	0	16761	1203	42	2	1465	2	TTC30B	2	178416956	Missense_Mutation	SNP	G	TCGA-TM-A84L-01A-11D-A36O-08	160719400	178416956	64782417	6	36602											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-TM-A84L-01A-11D-A36O-08	TCGA-TM-A84L-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a012b9-073b-4885-ad00-da8d4ea47ab9	29f12a90-ffa1-4e84-b0a5-e4f88ca43a02	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								24	61					0	0	1	0	0	T	209113112	C	T	209113112	3	4	469	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-TM-A84L-01A-11D-A36O-08	30696156	209113112	34086261	7	36603											
CXCR6	10663	broad.mit.edu	37	3	45988956	45988956	+	Missense_Mutation	SNP	T	T	C			TCGA-TM-A84L-01A-11D-A36O-08	TCGA-TM-A84L-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a012b9-073b-4885-ad00-da8d4ea47ab9	29f12a90-ffa1-4e84-b0a5-e4f88ca43a02	g.chr3:45988956T>C	ENST00000458629.1	+	1	2446	c.983T>C	c.(982-984)tTt>tCt	p.F328S	CXCR6_ENST00000457814.1_Missense_Mutation_p.F328S|FYCO1_ENST00000438446.1_Intron|CXCR6_ENST00000438735.1_Missense_Mutation_p.F328S|FYCO1_ENST00000535325.1_Intron|FYCO1_ENST00000296137.2_Intron|CXCR6_ENST00000304552.4_Missense_Mutation_p.F328S			O00574	CXCR6_HUMAN	chemokine (C-X-C motif) receptor 6	328					viral genome replication	integral to plasma membrane	coreceptor activity			central_nervous_system(1)|endometrium(1)|kidney(3)|lung(1)|prostate(1)|skin(1)	8				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		TCCAAGACTTTTTCTGCCTCC	0.483													23	69					0	0	1	0	0	C	45988956	T	C	45988956	3	2	469	1	0	0	0	0	1	0	0	0	4118	1841	64	3	985	3	CXCR6	3	45988956	Missense_Mutation	SNP	T	TCGA-TM-A84L-01A-11D-A36O-08		45988956	152033474	8	36604											
RUFY3	22902	broad.mit.edu	37	4	71659525	71659525	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A84L-01A-11D-A36O-08	TCGA-TM-A84L-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a012b9-073b-4885-ad00-da8d4ea47ab9	29f12a90-ffa1-4e84-b0a5-e4f88ca43a02	g.chr4:71659525G>A	ENST00000381006.3	+	13	1940	c.1361G>A	c.(1360-1362)cGc>cAc	p.R454H	RUFY3_ENST00000502653.1_Missense_Mutation_p.R401H	NM_001037442.2	NP_001032519.1	Q7L099	RUFY3_HUMAN	RUN and FYVE domain containing 3	291					negative regulation of axonogenesis	filopodium|growth cone				endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)	16		all_hematologic(202;0.248)	Lung(101;0.235)			GAGCGAAGCCGCCAATCTGCT	0.507													24	18					0	0	1	0	0	A	71659525	G	A	71659525	3	1	469	1	0	0	0	0	1	0	0	0	13792	1087	38	1	1854	1	RUFY3	4	71659525	Missense_Mutation	SNP	G	TCGA-TM-A84L-01A-11D-A36O-08		71659525	119494751	9	36605											
INTU	27152	broad.mit.edu	37	4	128629783	128629783	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A84L-01A-11D-A36O-08	TCGA-TM-A84L-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a012b9-073b-4885-ad00-da8d4ea47ab9	29f12a90-ffa1-4e84-b0a5-e4f88ca43a02	g.chr4:128629783G>A	ENST00000335251.6	+	13	2432	c.2329G>A	c.(2329-2331)Gac>Aac	p.D777N		NM_015693.3	NP_056508.2	Q9ULD6	PDZD6_HUMAN	inturned planar cell polarity protein											breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	43						CTTGAAAAAGGACCTTCCAGA	0.303													12	24					0	0	1	0	0	A	128629783	G	A	128629783	3	1	469	1	0	0	0	0	1	0	0	0	7830	1174	41	2	2379	2	INTU	4	128629783	Missense_Mutation	SNP	G	TCGA-TM-A84L-01A-11D-A36O-08	56970258	128629783	62524493	10	36606											
TMEM171	134285	broad.mit.edu	37	5	72419433	72419433	+	Missense_Mutation	SNP	G	G	A	rs151305324		TCGA-TM-A84L-01A-11D-A36O-08	TCGA-TM-A84L-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a012b9-073b-4885-ad00-da8d4ea47ab9	29f12a90-ffa1-4e84-b0a5-e4f88ca43a02	g.chr5:72419433G>A	ENST00000454765.2	+	2	706	c.233G>A	c.(232-234)cGc>cAc	p.R78H	TMEM171_ENST00000287773.5_Missense_Mutation_p.R78H			Q8WVE6	TM171_HUMAN	transmembrane protein 171	78						integral to membrane				endometrium(5)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|stomach(1)	15		Lung NSC(167;0.0378)|Ovarian(174;0.0908)|Prostate(461;0.165)		OV - Ovarian serous cystadenocarcinoma(47;1.87e-54)|Lung(70;0.115)		ATCCTGGCCCGCTCCCGGGCG	0.647													18	29					0	0	1	0	0	A	72419433	G	A	72419433	3	1	469	1	0	0	0	0	1	0	0	0	16148	1087	38	1	235	1	TMEM171	5	72419433	Missense_Mutation	SNP	G	TCGA-TM-A84L-01A-11D-A36O-08		72419433	108495827	11	36607											
MYLK4	340156	broad.mit.edu	37	6	2679602	2679602	+	Missense_Mutation	SNP	G	G	C			TCGA-TM-A84L-01A-11D-A36O-08	TCGA-TM-A84L-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a012b9-073b-4885-ad00-da8d4ea47ab9	29f12a90-ffa1-4e84-b0a5-e4f88ca43a02	g.chr6:2679602G>C	ENST00000274643.7	-	9	1141	c.799C>G	c.(799-801)Cca>Gca	p.P267A	MYLK4_ENST00000268446.5_Missense_Mutation_p.P267A	NM_001012418.3	NP_001012418.2	Q86YV6	MYLK4_HUMAN	myosin light chain kinase family, member 4	267	Protein kinase.						ATP binding|protein serine/threonine kinase activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23	Ovarian(93;0.0412)	all_hematologic(90;0.0897)				AGAAATTCTGGGGTTCCAAAG	0.448													15	194					0	0	1	0	0	C	2679602	G	C	2679602	3	2	469	1	0	0	0	0	1	0	0	0	10107	1232	43	5	383	5	MYLK4	6	2679602	Missense_Mutation	SNP	G	TCGA-TM-A84L-01A-11D-A36O-08		2679602	168435465	12	36608											
ELOVL2	54898	broad.mit.edu	37	6	11005622	11005622	+	Missense_Mutation	SNP	C	C	T	rs146714276	by1000genomes	TCGA-TM-A84L-01A-11D-A36O-08	TCGA-TM-A84L-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a012b9-073b-4885-ad00-da8d4ea47ab9	29f12a90-ffa1-4e84-b0a5-e4f88ca43a02	g.chr6:11005622C>T	ENST00000354666.3	-	3	321	c.238G>A	c.(238-240)Gcg>Acg	p.A80T		NM_017770.3	NP_060240.3	Q9NXB9	ELOV2_HUMAN	ELOVL fatty acid elongase 2	80					fatty acid elongation, polyunsaturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	fatty acid elongase activity|protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|stomach(1)|upper_aerodigestive_tract(2)	14	Breast(50;0.0418)|Ovarian(93;0.0919)	all_hematologic(90;0.117)	Epithelial(50;0.176)			AGCATGTACGCGGAGAGAAGT	0.438													17	48					0	0	1	0	0	T	11005622	C	T	11005622	3	4	469	1	0	0	0	0	1	0	0	0	5102	768	27	1	676	1	ELOVL2	6	11005622	Missense_Mutation	SNP	C	TCGA-TM-A84L-01A-11D-A36O-08	8326020	11005622	160109445	13	36609											
TRERF1	55809	broad.mit.edu	37	6	42210985	42210985	+	Splice_Site	SNP	C	C	T			TCGA-TM-A84L-01A-11D-A36O-08	TCGA-TM-A84L-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a012b9-073b-4885-ad00-da8d4ea47ab9	29f12a90-ffa1-4e84-b0a5-e4f88ca43a02	g.chr6:42210985C>T	ENST00000541110.1	-	15	3488		c.e15+1		TRERF1_ENST00000372922.4_Splice_Site|TRERF1_ENST00000372917.4_Splice_Site|TRERF1_ENST00000354325.2_Splice_Site|TRERF1_ENST00000340840.2_Splice_Site			Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1						cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			GCTTCACTCACCACACAATCG	0.542													25	61					0	0	1	0	0	T	42210985	C	T	42210985	5	4	469	1	0	0	0	0	0	0	1	0	16536	521	18	2	758	2	TRERF1	6	42210985	Splice_Site	SNP	C	TCGA-TM-A84L-01A-11D-A36O-08	31205363	42210985	128904082	14	36610											
ROS1	6098	broad.mit.edu	37	6	117704543	117704543	+	Missense_Mutation	SNP	G	G	T			TCGA-TM-A84L-01A-11D-A36O-08	TCGA-TM-A84L-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a012b9-073b-4885-ad00-da8d4ea47ab9	29f12a90-ffa1-4e84-b0a5-e4f88ca43a02	g.chr6:117704543G>T	ENST00000368508.3	-	16	2631	c.2433C>A	c.(2431-2433)agC>agA	p.S811R	ROS1_ENST00000368507.3_Missense_Mutation_p.S806R|GOPC_ENST00000467125.1_Intron	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	811					transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		TTAGTCTGGTGCTTTCCACTG	0.418			T	"GOPC, SDC4, SLC34A2, EZR, LRIG3"	"glioblastoma, NSCLC"								4	135					0.00024832	0.00024832	1	1	0	T	117704543	G	T	117704543	3	4	469	1	0	0	0	0	1	0	0	0	13583	1310	46	5	4722	5	ROS1	6	117704543	Missense_Mutation	SNP	G	TCGA-TM-A84L-01A-11D-A36O-08	75493558	117704543	53410524	15	36611											
ABCB5	340273	broad.mit.edu	37	7	20721141	20721141	+	Missense_Mutation	SNP	G	G	A	rs147800155	by1000genomes	TCGA-TM-A84L-01A-11D-A36O-08	TCGA-TM-A84L-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a012b9-073b-4885-ad00-da8d4ea47ab9	29f12a90-ffa1-4e84-b0a5-e4f88ca43a02	g.chr7:20721141G>A	ENST00000404938.2	+	15	2373	c.1721G>A	c.(1720-1722)cGg>cAg	p.R574Q	ABCB5_ENST00000258738.6_Missense_Mutation_p.R129Q	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	129	ABC transporter 2.				regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						AGCAAAGGTCGGACTACAATC	0.413													19	45					0	0	1	0	0	A	20721141	G	A	20721141	3	1	469	1	0	0	0	0	1	0	0	0	44	1116	39	1	1816	1	ABCB5	7	20721141	Missense_Mutation	SNP	G	TCGA-TM-A84L-01A-11D-A36O-08		20721141	138417522	16	36612											
PTPN12	5782	broad.mit.edu	37	7	77256458	77256458	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A84L-01A-11D-A36O-08	TCGA-TM-A84L-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a012b9-073b-4885-ad00-da8d4ea47ab9	29f12a90-ffa1-4e84-b0a5-e4f88ca43a02	g.chr7:77256458G>A	ENST00000248594.6	+	13	1734	c.1462G>A	c.(1462-1464)Ggt>Agt	p.G488S	PTPN12_ENST00000435495.2_Missense_Mutation_p.G358S|PTPN12_ENST00000415482.2_Missense_Mutation_p.G369S	NM_002835.3	NP_002826.3	Q05209	PTN12_HUMAN	protein tyrosine phosphatase, non-receptor type 12	488						soluble fraction	non-membrane spanning protein tyrosine phosphatase activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(12)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	39						TCTAAATGTCGGTGATACTTC	0.383													21	45					0	0	1	0	0	A	77256458	G	A	77256458	3	1	469	1	0	0	0	0	1	0	0	0	12831	1116	39	1	1512	1	PTPN12	7	77256458	Missense_Mutation	SNP	G	TCGA-TM-A84L-01A-11D-A36O-08	56535317	77256458	81882205	17	36613											
PRSS3	5646	broad.mit.edu	37	9	33797829	33797829	+	Missense_Mutation	SNP	G	G	A	rs138654302		TCGA-TM-A84L-01A-11D-A36O-08	TCGA-TM-A84L-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a012b9-073b-4885-ad00-da8d4ea47ab9	29f12a90-ffa1-4e84-b0a5-e4f88ca43a02	g.chr9:33797829G>A	ENST00000361005.5	+	3	374	c.374G>A	c.(373-375)cGc>cAc	p.R125H	PRSS3_ENST00000342836.4_Missense_Mutation_p.R82H|PRSS3_ENST00000429677.3_Missense_Mutation_p.R61H|PRSS3_ENST00000379405.3_Missense_Mutation_p.R68H|RP11-133O22.6_ENST00000454429.2_RNA	NM_007343.3	NP_031369	P35030	TRY3_HUMAN	protease, serine, 3	125	Peptidase S1.				digestion|endothelial cell migration|zymogen activation	extracellular space	calcium ion binding|protein binding|serine-type endopeptidase activity|serine-type peptidase activity			large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	13			LUSC - Lung squamous cell carcinoma(29;0.0176)			CCCATCAGCCGCATCCAGGTG	0.577													4	85					0	0	1	0	0	A	33797829	G	A	33797829	3	1	469	1	0	0	0	0	1	0	0	0	12671	1087	38	1	428	1	PRSS3	9	33797829	Missense_Mutation	SNP	G	TCGA-TM-A84L-01A-11D-A36O-08		33797829	107415602	18	36614											
OR1L4	254973	broad.mit.edu	37	9	125486633	125486633	+	Missense_Mutation	SNP	A	A	G			TCGA-TM-A84L-01A-11D-A36O-08	TCGA-TM-A84L-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a012b9-073b-4885-ad00-da8d4ea47ab9	29f12a90-ffa1-4e84-b0a5-e4f88ca43a02	g.chr9:125486633A>G	ENST00000259466.1	+	1	365	c.365A>G	c.(364-366)gAc>gGc	p.D122G		NM_001005235.1	NP_001005235.1	Q8NGR5	OR1L4_HUMAN	olfactory receptor, family 1, subfamily L, member 4	122					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|large_intestine(3)|lung(13)|prostate(1)|skin(1)	20						ATGGCCATCGACCGGCTGGTG	0.498													57	95					0	0	1	0	0	G	125486633	A	G	125486633	3	3	469	1	0	0	0	0	1	0	0	0	11013	275	10	3	367	3	OR1L4	9	125486633	Missense_Mutation	SNP	A	TCGA-TM-A84L-01A-11D-A36O-08	91688804	125486633	15726798	19	36615											
SLCO1B1	10599	broad.mit.edu	37	12	21392085	21392086	+	Frame_Shift_Ins	INS	-	-	T			TCGA-TM-A84L-01A-11D-A36O-08	TCGA-TM-A84L-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a012b9-073b-4885-ad00-da8d4ea47ab9	29f12a90-ffa1-4e84-b0a5-e4f88ca43a02	g.chr12:21392085_21392086insT	ENST00000256958.2	+	15	2134_2135	c.2038_2039insT	c.(2038-2040)gtcfs	p.V680fs		NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family, member 1B1	680					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)	TAAACATTTTGTCCCTTCTGCT	0.351													29	73	---	---	---	---						T	21392086	-	T	21392085	7	5	469	1	0	1	1	0	0	0	0	0	14778	1377	48	0	2092	0	SLCO1B1	12	21392085	Frame_Shift_Ins	INS	-	TCGA-TM-A84L-01A-11D-A36O-08		21392085	112459810	20	36616											
RBL2	5934	broad.mit.edu	37	16	53504686	53504686	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A84L-01A-11D-A36O-08	TCGA-TM-A84L-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a012b9-073b-4885-ad00-da8d4ea47ab9	29f12a90-ffa1-4e84-b0a5-e4f88ca43a02	g.chr16:53504686G>A	ENST00000262133.6	+	17	2692	c.2555G>A	c.(2554-2556)cGg>cAg	p.R852Q	RBL2_ENST00000379935.4_3'UTR|RBL2_ENST00000544545.1_Intron	NM_005611.3	NP_005602.3	Q08999	RBL2_HUMAN	retinoblastoma-like 2 (p130)	852	Domain B.|Pocket; binds E1A.				cell cycle|chromatin modification|regulation of cell cycle|regulation of lipid kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	p.R852L(1)		breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						GTCCGCCTTCGGGATCTCTGT	0.383													28	119					0	0	1	0	0	A	53504686	G	A	53504686	3	1	469	1	0	0	0	0	1	0	0	0	13162	1116	39	1	2621	1	RBL2	16	53504686	Missense_Mutation	SNP	G	TCGA-TM-A84L-01A-11D-A36O-08		53504686	36850067	21	36617											
TP53	7157	broad.mit.edu	37	17	7578208	7578208	+	Missense_Mutation	SNP	T	T	C			TCGA-TM-A84L-01A-11D-A36O-08	TCGA-TM-A84L-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a012b9-073b-4885-ad00-da8d4ea47ab9	29f12a90-ffa1-4e84-b0a5-e4f88ca43a02	g.chr17:7578208T>C	ENST00000420246.2	-	6	773	c.641A>G	c.(640-642)cAt>cGt	p.H214R	TP53_ENST00000455263.2_Missense_Mutation_p.H214R|TP53_ENST00000269305.4_Missense_Mutation_p.H214R|TP53_ENST00000445888.2_Missense_Mutation_p.H214R|TP53_ENST00000574684.1_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.H214R|TP53_ENST00000413465.2_Missense_Mutation_p.H214R	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	214	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		H -> D (in sporadic cancers; somatic mutation).|H -> P (in a sporadic cancer; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (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.H214R(61)|p.0?(8)|p.?(5)|p.H82R(4)|p.H214fs*33(4)|p.H121R(4)|p.H214fs*5(2)|p.D208fs*1(1)|p.H82fs*>9(1)|p.T211fs*28(1)|p.R213_S215>X(1)|p.D207_V216del10(1)|p.R213fs*32(1)|p.H121fs*33(1)|p.T211_S215delTFRHS(1)|p.R209fs*6(1)|p.D208_V216delDRNTFRHSV(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)		CACCACACTATGTCGAAAAGT	0.542		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)			11	18					0	0	1	0	0	C	7578208	T	C	7578208	3	2	469	1	0	0	0	0	1	0	0	0	16442	1464	51	3	653	3	TP53	17	7578208	Missense_Mutation	SNP	T	TCGA-TM-A84L-01A-11D-A36O-08		7578208	73617002	22	36618			1	49		2	2	43	N	T	3.934443e-05
TP53	7157	broad.mit.edu	37	17	7578250	7578250	+	Frame_Shift_Del	DEL	T	T	-			TCGA-TM-A84L-01A-11D-A36O-08	TCGA-TM-A84L-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a012b9-073b-4885-ad00-da8d4ea47ab9	29f12a90-ffa1-4e84-b0a5-e4f88ca43a02	g.chr17:7578250delT	ENST00000420246.2	-	6	731	c.599delA	c.(598-600)aatfs	p.N200fs	TP53_ENST00000445888.2_Frame_Shift_Del_p.N200fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.N200fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.N200fs|TP53_ENST00000574684.1_Intron|TP53_ENST00000455263.2_Frame_Shift_Del_p.N200fs|TP53_ENST00000269305.4_Frame_Shift_Del_p.N200fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	200	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		N -> D (in sporadic cancers; somatic mutation).|N -> I (in sporadic cancers; somatic mutation).|N -> K (in a sporadic cancer; somatic mutation).|N -> P (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|N -> S (in sporadic cancers; somatic mutation).|N -> T (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.0?(8)|p.?(5)|p.N200fs*47(2)|p.N200I(2)|p.N200S(2)|p.E198_L201>V(1)|p.N200fs*4(1)|p.E198fs*7(1)|p.N200fs*9(1)|p.N200fs*8(1)|p.P191fs*6(1)|p.N200T(1)|p.G199fs*42(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)		CACACGCAAATTTCCTTCCAC	0.547		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)			11	30	---	---	---	---						-	7578250	T	-	7578250	7	5	469	1	0	1	0	1	0	0	0	0	16442	1493	52	0	695	0	TP53	17	7578250	Frame_Shift_Del	DEL	T	TCGA-TM-A84L-01A-11D-A36O-08	42	7578250	73616960	23	36619			1	49		2	2	43	N	T	3.934443e-05
SP2	6668	broad.mit.edu	37	17	45994066	45994066	+	Missense_Mutation	SNP	T	T	C			TCGA-TM-A84L-01A-11D-A36O-08	TCGA-TM-A84L-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a012b9-073b-4885-ad00-da8d4ea47ab9	29f12a90-ffa1-4e84-b0a5-e4f88ca43a02	g.chr17:45994066T>C	ENST00000376741.4	+	3	766	c.629T>C	c.(628-630)gTg>gCg	p.V210A	AC003665.1_ENST00000585280.1_RNA|AC003665.1_ENST00000411573.2_RNA|AC003665.1_ENST00000451140.2_RNA|AC003665.1_ENST00000433001.1_RNA	NM_003110.5	NP_003101.3	Q02086	SP2_HUMAN	Sp2 transcription factor	210					immune response|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|histone deacetylase binding|zinc ion binding			endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	13						GGCGGCAATGTGACGCTCACT	0.627													25	39					0	0	1	0	0	C	45994066	T	C	45994066	3	2	469	1	0	0	0	0	1	0	0	0	15018	1696	59	3	639	3	SP2	17	45994066	Missense_Mutation	SNP	T	TCGA-TM-A84L-01A-11D-A36O-08	38415816	45994066	35201144	24	36620											
PDE6G	5148	broad.mit.edu	37	17	79620303	79620303	+	Silent	SNP	C	C	G			TCGA-TM-A84L-01A-11D-A36O-08	TCGA-TM-A84L-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a012b9-073b-4885-ad00-da8d4ea47ab9	29f12a90-ffa1-4e84-b0a5-e4f88ca43a02	g.chr17:79620303C>G	ENST00000573076.1	-	2	658	c.183G>C	c.(181-183)cgG>cgC	p.R61R	PDE6G_ENST00000331056.5_Silent_p.R11R|PDE6G_ENST00000574777.1_Intron|PDE6G_ENST00000571224.1_Silent_p.R11R|PDE6G_ENST00000571004.1_Silent_p.R11R			P18545	CNRG_HUMAN	phosphodiesterase 6G, cGMP-specific, rod, gamma	11					platelet activation|visual perception	cytosol	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|enzyme inhibitor activity			lung(2)|urinary_tract(1)	3	all_neural(118;0.0878)|all_lung(278;0.175)|Lung NSC(278;0.192)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			TGGTGGCTGACCGGAACTCAG	0.637													30	66					0	0	1	0	0	G	79620303	C	G	79620303	2	3	469	1	0	0	0	0	0	0	0	1	11696	494	18	5		5	PDE6G	17	79620303	Silent	SNP	C	TCGA-TM-A84L-01A-11D-A36O-08	33626237	79620303	1574907	25	36621											
DSG2	1829	broad.mit.edu	37	18	29099814	29099814	+	Missense_Mutation	SNP	T	T	G			TCGA-TM-A84L-01A-11D-A36O-08	TCGA-TM-A84L-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a012b9-073b-4885-ad00-da8d4ea47ab9	29f12a90-ffa1-4e84-b0a5-e4f88ca43a02	g.chr18:29099814T>G	ENST00000261590.8	+	3	339	c.130T>G	c.(130-132)Tta>Gta	p.L44V	DSG2_ENST00000585206.1_Missense_Mutation_p.L44V	NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	desmoglein 2	44					cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			ACATCCTCATTTAGTGCGGCA	0.423													17	40					0	0	1	0	0	G	29099814	T	G	29099814	3	3	469	1	0	0	0	0	1	0	0	0	4803	1838	64	5	140	5	DSG2	18	29099814	Missense_Mutation	SNP	T	TCGA-TM-A84L-01A-11D-A36O-08		29099814	48977434	26	36622											
LRP3	4037	broad.mit.edu	37	19	33698349	33698349	+	Frame_Shift_Del	DEL	C	C	-			TCGA-TM-A84L-01A-11D-A36O-08	TCGA-TM-A84L-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a012b9-073b-4885-ad00-da8d4ea47ab9	29f12a90-ffa1-4e84-b0a5-e4f88ca43a02	g.chr19:33698349delC	ENST00000253193.7	+	7	2383	c.2181delC	c.(2179-2181)cacfs	p.H727fs	CTD-2540B15.13_ENST00000609744.1_RNA	NM_002333.3	NP_002324.2	O75074	LRP3_HUMAN	low density lipoprotein receptor-related protein 3	727					receptor-mediated endocytosis	coated pit|integral to membrane	receptor activity			breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)	15	Esophageal squamous(110;0.137)					AGGACCCGCACCCCCAGGTCT	0.701													2	4	---	---	---	---						-	33698349	C	-	33698349	7	5	469	1	0	1	0	1	0	0	0	0	9003	506	18	0	2207	0	LRP3	19	33698349	Frame_Shift_Del	DEL	C	TCGA-TM-A84L-01A-11D-A36O-08		33698349	25430634	27	36623											
APOBEC3F	200316	broad.mit.edu	37	22	39448228	39448228	+	Silent	SNP	G	G	A			TCGA-TM-A84L-01A-11D-A36O-08	TCGA-TM-A84L-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a012b9-073b-4885-ad00-da8d4ea47ab9	29f12a90-ffa1-4e84-b0a5-e4f88ca43a02	g.chr22:39448228G>A	ENST00000308521.5	+	6	1230	c.873G>A	c.(871-873)ctG>ctA	p.L291L	APOBEC3G_ENST00000452957.2_Intron	NM_145298.5	NP_660341.2	Q9HC16	ABC3G_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3F	299					base conversion or substitution editing|DNA cytosine deamination|innate immune response|interspecies interaction between organisms|negative regulation of retroviral genome replication|negative regulation of transposition|positive regulation of defense response to virus by host|response to virus|viral reproduction	apolipoprotein B mRNA editing enzyme complex|cytosol|mitochondrion	cytidine deaminase activity|dCTP deaminase activity|protein homodimerization activity|RNA binding|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|skin(2)	16	Melanoma(58;0.04)					CCGAGTTCCTGGCCAGGCACA	0.567													30	67					0	0	1	0	0	A	39448228	G	A	39448228	2	1	469	1	0	0	0	0	0	0	0	1	790	1335	47	2		2	APOBEC3F	22	39448228	Silent	SNP	G	TCGA-TM-A84L-01A-11D-A36O-08		39448228	11856338	28	36624											
ATRX	546	broad.mit.edu	37	X	76938326	76938326	+	Nonsense_Mutation	SNP	G	G	A			TCGA-TM-A84L-01A-11D-A36O-08	TCGA-TM-A84L-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a012b9-073b-4885-ad00-da8d4ea47ab9	29f12a90-ffa1-4e84-b0a5-e4f88ca43a02	g.chrX:76938326G>A	ENST00000373344.5	-	9	2636	c.2422C>T	c.(2422-2424)Cga>Tga	p.R808*	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Nonsense_Mutation_p.R770*	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	808					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)	tGGGTTTGTCGTTTCTTTTTA	0.338			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						86	44					0	0	1	0	0	A	76938326	G	A	76938326	4	1	469	1	0	0	0	0	0	1	0	0	1206	1153	40	1	5164	1	ATRX	23	76938326	Nonsense_Mutation	SNP	G	TCGA-TM-A84L-01A-11D-A36O-08		76938326	78332234	29	36625											
EIF4G3	8672	broad.mit.edu	37	1	21205843	21205843	+	Silent	SNP	G	G	A			TCGA-TM-A84M-01A-11D-A36O-08	TCGA-TM-A84M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36fec0f9-4fd0-418c-b67b-bad1d547aef8	73edccc5-3b03-401d-839a-c15d45c3bdaf	g.chr1:21205843G>A	ENST00000602326.1	-	18	3028	c.2445C>T	c.(2443-2445)taC>taT	p.Y815Y	EIF4G3_ENST00000264211.8_Silent_p.Y809Y|EIF4G3_ENST00000374935.3_Silent_p.Y529Y|EIF4G3_ENST00000537738.1_Silent_p.Y299Y|EIF4G3_ENST00000536266.1_Silent_p.Y413Y|EIF4G3_ENST00000374937.3_Silent_p.Y815Y|EIF4G3_ENST00000400422.1_Silent_p.Y809Y	NM_001198802.1	NP_001185731.1	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	809	MIF4G.|eIF3/EIF4A-binding (By similarity).				interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|RNA cap binding|translation initiation factor activity			endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		ACATGTTTGCGTAAGCCACAG	0.443													4	80					0	0	1	0	0	A	21205843	G	A	21205843	2	1	470	1	0	0	0	0	0	0	0	1	5066	1140	40	1		1	EIF4G3	1	21205843	Silent	SNP	G	TCGA-TM-A84M-01A-11D-A36O-08		21205843	228044778	1	36626											
ARID1A	8289	broad.mit.edu	37	1	27097676	27097676	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A84M-01A-11D-A36O-08	TCGA-TM-A84M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36fec0f9-4fd0-418c-b67b-bad1d547aef8	73edccc5-3b03-401d-839a-c15d45c3bdaf	g.chr1:27097676G>A	ENST00000324856.7	+	12	3636	c.3265G>A	c.(3265-3267)Gcc>Acc	p.A1089T	ARID1A_ENST00000457599.2_Missense_Mutation_p.A1089T|ARID1A_ENST00000374152.2_Missense_Mutation_p.A706T	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1089	ARID.				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		AAGCAGTGCTGCCAGCTCCTT	0.473			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"								12	6					0	0	1	0	0	A	27097676	G	A	27097676	3	1	470	1	0	0	0	0	1	0	0	0	910	1319	46	2	3311	2	ARID1A	1	27097676	Missense_Mutation	SNP	G	TCGA-TM-A84M-01A-11D-A36O-08	5891833	27097676	222152945	2	36627											
FUBP1	8880	broad.mit.edu	37	1	78432598	78432598	+	Nonsense_Mutation	SNP	C	C	A			TCGA-TM-A84M-01A-11D-A36O-08	TCGA-TM-A84M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36fec0f9-4fd0-418c-b67b-bad1d547aef8	73edccc5-3b03-401d-839a-c15d45c3bdaf	g.chr1:78432598C>A	ENST00000370767.1	-	6	472	c.385G>T	c.(385-387)Gaa>Taa	p.E129*	FUBP1_ENST00000436586.2_Nonsense_Mutation_p.E150*|FUBP1_ENST00000370768.2_Nonsense_Mutation_p.E129*			Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1	129	KH 1.				transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						CATCCAGATTCCTGTTGTATG	0.318			"F, N"		oligodendroglioma								15	3					6.94344e-10	7.38664e-10	1	1	0	A	78432598	C	A	78432598	4	1	470	1	0	0	0	0	0	1	0	0	6127	864	30	5	1609	5	FUBP1	1	78432598	Nonsense_Mutation	SNP	C	TCGA-TM-A84M-01A-11D-A36O-08	51334922	78432598	170818023	3	36628											
SEC22B	9554	broad.mit.edu	37	1	145109584	145109584	+	RNA	SNP	G	G	A			TCGA-TM-A84M-01A-11D-A36O-08	TCGA-TM-A84M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36fec0f9-4fd0-418c-b67b-bad1d547aef8	73edccc5-3b03-401d-839a-c15d45c3bdaf	g.chr1:145109584G>A	ENST00000453618.1	+	0	573							O75396	SC22B_HUMAN	SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)						ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome	protein binding										TCCCTAAGACGTTGGCTTTTG	0.428													52	352					0	0	1	0	0	A	145109584	G	A	145109584	1	1	470	0	1	0	0	0	0	0	0	0	14043	1132	40	1		1	SEC22B	1	145109584	RNA	SNP	G	TCGA-TM-A84M-01A-11D-A36O-08	66676986	145109584	104141037	4	36629											
TNN	63923	broad.mit.edu	37	1	175106074	175106074	+	Missense_Mutation	SNP	C	C	T			TCGA-TM-A84M-01A-11D-A36O-08	TCGA-TM-A84M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36fec0f9-4fd0-418c-b67b-bad1d547aef8	73edccc5-3b03-401d-839a-c15d45c3bdaf	g.chr1:175106074C>T	ENST00000239462.4	+	17	3658	c.3545C>T	c.(3544-3546)tCc>tTc	p.S1182F		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	1182	Fibrinogen C-terminal.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		CAAGTGGCCTCCAGCAAGGAG	0.483													5	64					0	0	1	0	0	T	175106074	C	T	175106074	3	4	470	1	0	0	0	0	1	0	0	0	16383	855	30	2	3607	2	TNN	1	175106074	Missense_Mutation	SNP	C	TCGA-TM-A84M-01A-11D-A36O-08	29996490	175106074	74144547	5	36630											
CAPN9	10753	broad.mit.edu	37	1	230898421	230898421	+	Frame_Shift_Del	DEL	T	T	-			TCGA-TM-A84M-01A-11D-A36O-08	TCGA-TM-A84M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36fec0f9-4fd0-418c-b67b-bad1d547aef8	73edccc5-3b03-401d-839a-c15d45c3bdaf	g.chr1:230898421delT	ENST00000354537.1	+	4	507	c.425delT	c.(424-426)ctgfs	p.L142fs	CAPN9_ENST00000271971.2_Frame_Shift_Del_p.L142fs|CAPN9_ENST00000366666.2_Frame_Shift_Del_p.L79fs|RP11-99J16__A.2_ENST00000412344.1_RNA	NM_016452.1	NP_057536.1	O14815	CAN9_HUMAN	calpain 9	142	Calpain catalytic.				digestion|proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	25	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)				AGTGAGTGGCTGGACGTGGTG	0.547													39	43	---	---	---	---						-	230898421	T	-	230898421	7	5	470	1	0	1	0	1	0	0	0	0	2650	1580	55	0	439	0	CAPN9	1	230898421	Frame_Shift_Del	DEL	T	TCGA-TM-A84M-01A-11D-A36O-08	55792347	230898421	18352200	6	36631											
EDARADD	128178	broad.mit.edu	37	1	236645924	236645924	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A84M-01A-11D-A36O-08	TCGA-TM-A84M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36fec0f9-4fd0-418c-b67b-bad1d547aef8	73edccc5-3b03-401d-839a-c15d45c3bdaf	g.chr1:236645924G>A	ENST00000359362.5	+	6	807	c.593G>A	c.(592-594)cGt>cAt	p.R198H	EDARADD_ENST00000334232.4_Missense_Mutation_p.R208H	NM_080738.3	NP_542776.1	Q8WWZ3	EDAD_HUMAN	EDAR-associated death domain	208	Death.				cell differentiation|signal transduction	cytoplasm		p.R208L(1)		endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|stomach(1)	12	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.0232)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			AAGCGGGAGCGTGGAGACCCC	0.582													4	54					0	0	1	0	0	A	236645924	G	A	236645924	3	1	470	1	0	0	0	0	1	0	0	0	4932	1145	40	1	680	1	EDARADD	1	236645924	Missense_Mutation	SNP	G	TCGA-TM-A84M-01A-11D-A36O-08	5747503	236645924	12604697	7	36632											
APOB	338	broad.mit.edu	37	2	21237441	21237441	+	Missense_Mutation	SNP	C	C	G			TCGA-TM-A84M-01A-11D-A36O-08	TCGA-TM-A84M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36fec0f9-4fd0-418c-b67b-bad1d547aef8	73edccc5-3b03-401d-839a-c15d45c3bdaf	g.chr2:21237441C>G	ENST00000233242.1	-	24	3848	c.3721G>C	c.(3721-3723)Gca>Cca	p.A1241P		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	1241					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	CTCCCAGATGCCTTCTGAAGC	0.453													4	58					0	0	1	0	0	G	21237441	C	G	21237441	3	3	470	1	0	0	0	0	1	0	0	0	782	739	26	5	9994	5	APOB	2	21237441	Missense_Mutation	SNP	C	TCGA-TM-A84M-01A-11D-A36O-08		21237441	221961932	8	36633											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-TM-A84M-01A-11D-A36O-08	TCGA-TM-A84M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36fec0f9-4fd0-418c-b67b-bad1d547aef8	73edccc5-3b03-401d-839a-c15d45c3bdaf	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	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								42	42					0	0	1	0	0	T	209113112	C	T	209113112	3	4	470	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-TM-A84M-01A-11D-A36O-08	187875671	209113112	34086261	9	36634											
ADAMTS9	56999	broad.mit.edu	37	3	64527574	64527574	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A84M-01A-11D-A36O-08	TCGA-TM-A84M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36fec0f9-4fd0-418c-b67b-bad1d547aef8	73edccc5-3b03-401d-839a-c15d45c3bdaf	g.chr3:64527574G>A	ENST00000498707.1	-	33	5479	c.5137C>T	c.(5137-5139)Cac>Tac	p.H1713Y	ADAMTS9_ENST00000295903.4_Missense_Mutation_p.H1685Y	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	1713	TSP type-1 15.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		TGGCATAAGTGGCTGGGTTGG	0.443													50	68					0	0	1	0	0	A	64527574	G	A	64527574	3	1	470	1	0	0	0	0	1	0	0	0	272	1348	47	2	698	2	ADAMTS9	3	64527574	Missense_Mutation	SNP	G	TCGA-TM-A84M-01A-11D-A36O-08		64527574	133494856	10	36635											
ATP6V1A	523	broad.mit.edu	37	3	113514767	113514767	+	Missense_Mutation	SNP	C	C	T			TCGA-TM-A84M-01A-11D-A36O-08	TCGA-TM-A84M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36fec0f9-4fd0-418c-b67b-bad1d547aef8	73edccc5-3b03-401d-839a-c15d45c3bdaf	g.chr3:113514767C>T	ENST00000273398.3	+	11	1379	c.1271C>T	c.(1270-1272)gCc>gTc	p.A424V	ATP6V1A_ENST00000538620.1_Missense_Mutation_p.A391V	NM_001690.3	NP_001681.2	P38606	VATA_HUMAN	ATPase, H+ transporting, lysosomal 70kDa, V1 subunit A	424					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|integral to plasma membrane|proton-transporting V-type ATPase, V1 domain	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GTTACATCTGCCACTCTTGGT	0.383													18	38					0	0	1	0	0	T	113514767	C	T	113514767	3	4	470	1	0	0	0	0	1	0	0	0	1175	739	26	2	1309	2	ATP6V1A	3	113514767	Missense_Mutation	SNP	C	TCGA-TM-A84M-01A-11D-A36O-08	48987193	113514767	84507663	11	36636											
DMP1	1758	broad.mit.edu	37	4	88583167	88583167	+	Missense_Mutation	SNP	T	T	A			TCGA-TM-A84M-01A-11D-A36O-08	TCGA-TM-A84M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36fec0f9-4fd0-418c-b67b-bad1d547aef8	73edccc5-3b03-401d-839a-c15d45c3bdaf	g.chr4:88583167T>A	ENST00000339673.6	+	6	336	c.237T>A	c.(235-237)gaT>gaA	p.D79E	DMP1_ENST00000282479.7_Missense_Mutation_p.D63E|RP11-742B18.1_ENST00000506480.1_RNA|RP11-742B18.1_ENST00000507894.1_RNA	NM_004407.3	NP_004398.1	Q13316	DMP1_HUMAN	dentin matrix acidic phosphoprotein 1	79					biomineral tissue development|ossification	cytoplasm|nucleus|proteinaceous extracellular matrix	calcium ion binding|integrin binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(1)|stomach(1)	32		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.227)		OV - Ovarian serous cystadenocarcinoma(123;0.000516)		TGGGCTCTGATGATCATCAAT	0.468													31	30					0	0	1	0	0	A	88583167	T	A	88583167	3	1	470	1	0	0	0	0	1	0	0	0	4611	1461	51	4	255	4	DMP1	4	88583167	Missense_Mutation	SNP	T	TCGA-TM-A84M-01A-11D-A36O-08		88583167	102571109	12	36637											
C4orf21	55345	broad.mit.edu	37	4	113540554	113540554	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A84M-01A-11D-A36O-08	TCGA-TM-A84M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36fec0f9-4fd0-418c-b67b-bad1d547aef8	73edccc5-3b03-401d-839a-c15d45c3bdaf	g.chr4:113540554G>A	ENST00000505019.1	-	6	769	c.644C>T	c.(643-645)tCa>tTa	p.S215L	C4orf21_ENST00000309071.5_Missense_Mutation_p.S215L|C4orf21_ENST00000445203.2_Missense_Mutation_p.S184L	NM_018392.4	NP_060862.3	Q86YA3	CD021_HUMAN	chromosome 4 open reading frame 21	215										breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		ATTGACAGGTGAGCAAAAATA	0.388													7	79					0	0	1	0	0	A	113540554	G	A	113540554	3	1	470	1	0	0	0	0	1	0	0	0	2269	1294	45	2	5762	2	C4orf21	4	113540554	Missense_Mutation	SNP	G	TCGA-TM-A84M-01A-11D-A36O-08	24957387	113540554	77613722	13	36638											
NEK1	4750	broad.mit.edu	37	4	170476982	170476982	+	Missense_Mutation	SNP	C	C	T			TCGA-TM-A84M-01A-11D-A36O-08	TCGA-TM-A84M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36fec0f9-4fd0-418c-b67b-bad1d547aef8	73edccc5-3b03-401d-839a-c15d45c3bdaf	g.chr4:170476982C>T	ENST00000439128.2	-	17	2091	c.1451G>A	c.(1450-1452)cGt>cAt	p.R484H	NEK1_ENST00000510533.1_Intron|NEK1_ENST00000511633.1_Intron|NEK1_ENST00000512193.1_Intron|NEK1_ENST00000507142.1_Missense_Mutation_p.R484H	NM_012224.2	NP_036356.1	Q96PY6	NEK1_HUMAN	NIMA-related kinase 1	484					cell division|cilium assembly|mitosis	nucleus|pericentriolar material	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.R484H(1)		NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|stomach(1)	45		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)|KIRC - Kidney renal clear cell carcinoma(143;0.0325)|Kidney(143;0.0385)|LUSC - Lung squamous cell carcinoma(193;0.14)		AAATCCTGGACGAACTCCAGG	0.413													7	63					0	0	1	0	0	T	170476982	C	T	170476982	3	4	470	1	0	0	0	0	1	0	0	0	10368	536	19	1	2397	1	NEK1	4	170476982	Missense_Mutation	SNP	C	TCGA-TM-A84M-01A-11D-A36O-08	56936428	170476982	20677294	14	36639											
ARHGEF37	389337	broad.mit.edu	37	5	148989208	148989208	+	Silent	SNP	G	G	A			TCGA-TM-A84M-01A-11D-A36O-08	TCGA-TM-A84M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36fec0f9-4fd0-418c-b67b-bad1d547aef8	73edccc5-3b03-401d-839a-c15d45c3bdaf	g.chr5:148989208G>A	ENST00000333677.6	+	4	571	c.408G>A	c.(406-408)cgG>cgA	p.R136R		NM_001001669.2	NP_001001669.2	A1IGU5	ARH37_HUMAN	Rho guanine nucleotide exchange factor (GEF) 37	136	DH.				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			large_intestine(5)|lung(6)|ovary(1)|prostate(2)|stomach(3)	17						ACACGTACCGGAAGGAGCCGG	0.572													23	26					0	0	1	0	0	A	148989208	G	A	148989208	2	1	470	1	0	0	0	0	0	0	0	1	903	1161	41	2		2	ARHGEF37	5	148989208	Silent	SNP	G	TCGA-TM-A84M-01A-11D-A36O-08		148989208	31926052	15	36640											
RUFY1	80230	broad.mit.edu	37	5	179028901	179028901	+	Silent	SNP	G	G	A			TCGA-TM-A84M-01A-11D-A36O-08	TCGA-TM-A84M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36fec0f9-4fd0-418c-b67b-bad1d547aef8	73edccc5-3b03-401d-839a-c15d45c3bdaf	g.chr5:179028901G>A	ENST00000319449.4	+	15	1782	c.1770G>A	c.(1768-1770)cgG>cgA	p.R590R	RUFY1_ENST00000437570.2_Silent_p.R482R|RUFY1_ENST00000393438.2_Silent_p.R482R|RUFY1_ENST00000377001.2_3'UTR|RP11-1379J22.2_ENST00000500262.1_RNA	NM_025158.4	NP_079434.3	Q96T51	RUFY1_HUMAN	RUN and FYVE domain containing 1	590					endocytosis|protein transport	early endosome membrane	lipid binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	26	all_cancers(89;0.00018)|all_epithelial(37;8.37e-05)|Renal(175;0.000159)|Lung NSC(126;0.00108)|all_lung(126;0.00195)	all_cancers(40;0.0322)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGGAGTTGCGGGAGCTTCAGG	0.478										HNSCC(44;0.11)			37	62					0	0	1	0	0	A	179028901	G	A	179028901	2	1	470	1	0	0	0	0	0	0	0	1	13790	1219	43	2		2	RUFY1	5	179028901	Silent	SNP	G	TCGA-TM-A84M-01A-11D-A36O-08	30039693	179028901	1886359	16	36641											
USP49	25862	broad.mit.edu	37	6	41773595	41773595	+	Missense_Mutation	SNP	A	A	G			TCGA-TM-A84M-01A-11D-A36O-08	TCGA-TM-A84M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36fec0f9-4fd0-418c-b67b-bad1d547aef8	73edccc5-3b03-401d-839a-c15d45c3bdaf	g.chr6:41773595A>G	ENST00000394253.3	-	3	1456	c.1127T>C	c.(1126-1128)gTg>gCg	p.V376A	USP49_ENST00000373006.1_Missense_Mutation_p.V376A|USP49_ENST00000373009.3_Missense_Mutation_p.V376A|USP49_ENST00000373010.1_Missense_Mutation_p.V376A|USP49_ENST00000297229.2_Missense_Mutation_p.V376A			Q70CQ1	UBP49_HUMAN	ubiquitin specific peptidase 49	376					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2)|skin(2)	23	Ovarian(28;0.0919)|Colorectal(47;0.121)		STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000309)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			GAAGGGCGACACTAGGGCCCA	0.597													29	35					0	0	1	0	0	G	41773595	A	G	41773595	3	3	470	1	0	0	0	0	1	0	0	0	17140	159	6	3	811	3	USP49	6	41773595	Missense_Mutation	SNP	A	TCGA-TM-A84M-01A-11D-A36O-08		41773595	129341472	17	36642											
GUSB	2990	broad.mit.edu	37	7	65439637	65439637	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A84M-01A-11D-A36O-08	TCGA-TM-A84M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36fec0f9-4fd0-418c-b67b-bad1d547aef8	73edccc5-3b03-401d-839a-c15d45c3bdaf	g.chr7:65439637G>A	ENST00000304895.4	-	7	1250	c.1120C>T	c.(1120-1122)Cgc>Tgc	p.R374C	GUSB_ENST00000345660.6_Missense_Mutation_p.R323C|GUSB_ENST00000421103.1_Missense_Mutation_p.R228C	NM_000181.3	NP_000172.2	P08236	BGLR_HUMAN	glucuronidase, beta	374			R -> C (in MPS7).		glycosaminoglycan catabolic process	lysosome	beta-glucuronidase activity|cation binding			breast(1)|cervix(2)|kidney(2)|large_intestine(4)|lung(10)|skin(1)	20						CCAAGCCAGCGAAGCAGGTTG	0.572													44	46					0	0	1	0	0	A	65439637	G	A	65439637	3	1	470	1	0	0	0	0	1	0	0	0	6943	1058	37	1	859	1	GUSB	7	65439637	Missense_Mutation	SNP	G	TCGA-TM-A84M-01A-11D-A36O-08		65439637	93699026	18	36643											
RP1	6101	broad.mit.edu	37	8	55541377	55541377	+	Frame_Shift_Del	DEL	T	T	-			TCGA-TM-A84M-01A-11D-A36O-08	TCGA-TM-A84M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36fec0f9-4fd0-418c-b67b-bad1d547aef8	73edccc5-3b03-401d-839a-c15d45c3bdaf	g.chr8:55541377delT	ENST00000220676.1	+	4	5083	c.4935delT	c.(4933-4935)tctfs	p.S1645fs		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1645					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	p.P1648fs*62(1)		NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TCAAACCATCTTTTTTTCCTG	0.378													8	134	---	---	---	---						-	55541377	T	-	55541377	7	5	470	1	0	1	0	1	0	0	0	0	13584	1596	56	0	4945	0	RP1	8	55541377	Frame_Shift_Del	DEL	T	TCGA-TM-A84M-01A-11D-A36O-08		55541377	90822645	19	36644											
KLF9	687	broad.mit.edu	37	9	73027912	73027912	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A84M-01A-11D-A36O-08	TCGA-TM-A84M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36fec0f9-4fd0-418c-b67b-bad1d547aef8	73edccc5-3b03-401d-839a-c15d45c3bdaf	g.chr9:73027912G>A	ENST00000377126.2	-	1	1628	c.368C>T	c.(367-369)cCg>cTg	p.P123L		NM_001206.2	NP_001197.1	Q13886	KLF9_HUMAN	Kruppel-like factor 9	123					regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(3)|lung(1)|prostate(2)|urinary_tract(1)	9						GAGGGAGAGCGGGCTGGGCGC	0.607													45	68					0	0	1	0	0	A	73027912	G	A	73027912	3	1	470	1	0	0	0	0	1	0	0	0	8396	1116	39	1	374	1	KLF9	9	73027912	Missense_Mutation	SNP	G	TCGA-TM-A84M-01A-11D-A36O-08		73027912	68185519	20	36645											
PCSK5	5125	broad.mit.edu	37	9	78943012	78943012	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A84M-01A-11D-A36O-08	TCGA-TM-A84M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36fec0f9-4fd0-418c-b67b-bad1d547aef8	73edccc5-3b03-401d-839a-c15d45c3bdaf	g.chr9:78943012G>A	ENST00000545128.1	+	32	4884	c.4346G>A	c.(4345-4347)tGc>tAc	p.C1449Y		NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	674					anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						CGTGGGAGCTGCATGGCCAAC	0.597													4	237					0	0	1	0	0	A	78943012	G	A	78943012	3	1	470	1	0	0	0	0	1	0	0	0	11650	1334	46	2		2	PCSK5	9	78943012	Missense_Mutation	SNP	G	TCGA-TM-A84M-01A-11D-A36O-08	5915100	78943012	62270419	21	36646											
FAM188A	80013	broad.mit.edu	37	10	15885222	15885222	+	Missense_Mutation	SNP	C	C	T			TCGA-TM-A84M-01A-11D-A36O-08	TCGA-TM-A84M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36fec0f9-4fd0-418c-b67b-bad1d547aef8	73edccc5-3b03-401d-839a-c15d45c3bdaf	g.chr10:15885222C>T	ENST00000277632.3	-	3	444	c.224G>A	c.(223-225)cGg>cAg	p.R75Q	FAM188A_ENST00000477891.1_5'UTR	NM_024948.2	NP_079224.1	Q9H8M7	F188A_HUMAN	family with sequence similarity 188, member A	75					apoptosis	nucleus	calcium ion binding			breast(2)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	22						TGAACAATCCCGCCAAGAAGA	0.343													38	64					0	0	1	0	0	T	15885222	C	T	15885222	3	4	470	1	0	0	0	0	1	0	0	0	5545	652	23	1	1165	1	FAM188A	10	15885222	Missense_Mutation	SNP	C	TCGA-TM-A84M-01A-11D-A36O-08		15885222	119649525	22	36647											
ZDHHC5	25921	broad.mit.edu	37	11	57466676	57466676	+	Missense_Mutation	SNP	T	T	C			TCGA-TM-A84M-01A-11D-A36O-08	TCGA-TM-A84M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36fec0f9-4fd0-418c-b67b-bad1d547aef8	73edccc5-3b03-401d-839a-c15d45c3bdaf	g.chr11:57466676T>C	ENST00000287169.3	+	11	3130	c.1768T>C	c.(1768-1770)Tca>Cca	p.S590P	ZDHHC5_ENST00000527985.1_Missense_Mutation_p.S537P	NM_015457.2	NP_056272.2	Q9C0B5	ZDHC5_HUMAN	zinc finger, DHHC-type containing 5	590						integral to membrane	acyltransferase activity|zinc ion binding			endometrium(6)|kidney(3)|large_intestine(3)|lung(5)|skin(1)	18						CTCAGATGATTCAAAGAGATC	0.607													44	55					0	0	1	0	0	C	57466676	T	C	57466676	3	2	470	1	0	0	0	0	1	0	0	0	17676	1783	62	3	1806	3	ZDHHC5	11	57466676	Missense_Mutation	SNP	T	TCGA-TM-A84M-01A-11D-A36O-08		57466676	77539840	23	36648											
FOXN4	121643	broad.mit.edu	37	12	109724566	109724566	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A84M-01A-11D-A36O-08	TCGA-TM-A84M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36fec0f9-4fd0-418c-b67b-bad1d547aef8	73edccc5-3b03-401d-839a-c15d45c3bdaf	g.chr12:109724566G>A	ENST00000355216.1	-	3	291	c.40C>T	c.(40-42)Cca>Tca	p.P14S	FOXN4_ENST00000299162.5_Intron			Q96NZ1	FOXN4_HUMAN	forkhead box N4	194					axon extension|embryo development|organ development|pattern specification process|regulation of heart contraction|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			large_intestine(5)|lung(9)|ovary(2)	16						GCAGGAGGTGgggcagggcag	0.632													6	5					0	0	1	0	0	A	109724566	G	A	109724566	3	1	470	1	0	0	0	0	1	0	0	0	6056	1247	43	2		2	FOXN4	12	109724566	Missense_Mutation	SNP	G	TCGA-TM-A84M-01A-11D-A36O-08		109724566	24127329	24	36649											
REM2	161253	broad.mit.edu	37	14	23354539	23354539	+	Silent	SNP	C	C	A			TCGA-TM-A84M-01A-11D-A36O-08	TCGA-TM-A84M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36fec0f9-4fd0-418c-b67b-bad1d547aef8	73edccc5-3b03-401d-839a-c15d45c3bdaf	g.chr14:23354539C>A	ENST00000267396.4	+	3	633	c.510C>A	c.(508-510)atC>atA	p.I170I	REM2_ENST00000536884.1_Intron	NM_173527.2	NP_775798.2	Q8IYK8	REM2_HUMAN	RAS (RAD and GEM)-like GTP binding 2	170					regulation of transcription, DNA-dependent|small GTPase mediated signal transduction	intracellular|plasma membrane	ATP binding|GTP binding|transcription factor binding			breast(1)|central_nervous_system(1)|large_intestine(2)|ovary(1)	5	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.012)		TTTATGACATCTGGGAACAGG	0.507													32	36					8.53417e-09	8.70834e-09	1	1	0	A	23354539	C	A	23354539	2	1	470	1	0	0	0	0	0	0	0	1	13275	903	32	4		4	REM2	14	23354539	Silent	SNP	C	TCGA-TM-A84M-01A-11D-A36O-08		23354539	83995001	25	36650											
PLA2G4D	283748	broad.mit.edu	37	15	42363709	42363709	+	Silent	SNP	G	G	A			TCGA-TM-A84M-01A-11D-A36O-08	TCGA-TM-A84M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36fec0f9-4fd0-418c-b67b-bad1d547aef8	73edccc5-3b03-401d-839a-c15d45c3bdaf	g.chr15:42363709G>A	ENST00000290472.3	-	16	1708	c.1614C>T	c.(1612-1614)gcC>gcT	p.A538A		NM_178034.3	NP_828848.3	Q86XP0	PA24D_HUMAN	phospholipase A2, group IVD (cytosolic)	538	PLA2c.				phospholipid catabolic process	cytoplasmic vesicle membrane|cytosol	metal ion binding|phospholipase A2 activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245)		OV - Ovarian serous cystadenocarcinoma(18;4.9e-17)|GBM - Glioblastoma multiforme(94;1.02e-06)		GGTCATACCAGGCATCCAGCA	0.592													27	35					0	0	1	0	0	A	42363709	G	A	42363709	2	1	470	1	0	0	0	0	0	0	0	1	12052	987	35	2		2	PLA2G4D	15	42363709	Silent	SNP	G	TCGA-TM-A84M-01A-11D-A36O-08		42363709	60167683	26	36651											
C15orf38	348110	broad.mit.edu	37	15	90446605	90446605	+	Missense_Mutation	SNP	A	A	G			TCGA-TM-A84M-01A-11D-A36O-08	TCGA-TM-A84M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36fec0f9-4fd0-418c-b67b-bad1d547aef8	73edccc5-3b03-401d-839a-c15d45c3bdaf	g.chr15:90446605A>G	ENST00000357484.5	-	5	635	c.515T>C	c.(514-516)tTg>tCg	p.L172S	C15orf38-AP3S2_ENST00000398333.3_Missense_Mutation_p.L172S|C15orf38_ENST00000460685.1_Missense_Mutation_p.L76S	NM_001282380.1|NM_182616.2	NP_001269309.1|NP_872422.1			chromosome 15 open reading frame 38											breast(3)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)	10	Melanoma(11;0.0171)|Lung NSC(78;0.0181)|all_lung(78;0.0384)		BRCA - Breast invasive adenocarcinoma(143;0.0107)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.223)			AAGTTTGGCCAATGAATCTGA	0.502													34	55					0	0	1	0	0	G	90446605	A	G	90446605	3	3	470	1	0	0	0	0	1	0	0	0	1798	131	5	3	173	3	C15orf38	15	90446605	Missense_Mutation	SNP	A	TCGA-TM-A84M-01A-11D-A36O-08	48082896	90446605	12084787	27	36652											
TP53	7157	broad.mit.edu	37	17	7577539	7577539	+	Missense_Mutation	SNP	G	G	A	rs121912651		TCGA-TM-A84M-01A-11D-A36O-08	TCGA-TM-A84M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36fec0f9-4fd0-418c-b67b-bad1d547aef8	73edccc5-3b03-401d-839a-c15d45c3bdaf	g.chr17:7577539G>A	ENST00000420246.2	-	7	874	c.742C>T	c.(742-744)Cgg>Tgg	p.R248W	TP53_ENST00000445888.2_Missense_Mutation_p.R248W|TP53_ENST00000455263.2_Missense_Mutation_p.R248W|TP53_ENST00000413465.2_Missense_Mutation_p.R248W|TP53_ENST00000359597.4_Missense_Mutation_p.R248W|TP53_ENST00000269305.4_Missense_Mutation_p.R248W	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	248	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R248W(544)|p.R155W(28)|p.R248G(12)|p.0?(8)|p.?(5)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.N247_R248>KW(2)|p.M246_P250delMNRRP(2)|p.R248fs*97(2)|p.R248R(2)|p.R248fs*>39(1)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(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)		ATGGGCCTCCGGTTCATGCCG	0.577	R248W(786O_KIDNEY)|R248W(CAS1_CENTRAL_NERVOUS_SYSTEM)|R248W(COLO320_LARGE_INTESTINE)|R248W(COLO680N_OESOPHAGUS)|R248W(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(GCT_SOFT_TISSUE)|R248W(HCC2157_BREAST)|R248W(JIMT1_BREAST)|R248W(KO52_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(LUDLU1_LUNG)|R248W(LXF289_LUNG)|R248W(MIAPACA2_PANCREAS)|R248W(RD_SOFT_TISSUE)|R248W(SW837_LARGE_INTESTINE)|R248W(VCAP_PROSTATE)	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)			17	35					0	0	1	0	0	A	7577539	G	A	7577539	3	1	470	1	0	0	0	0	1	0	0	0	16442	1115	39	1	548	1	TP53	17	7577539	Missense_Mutation	SNP	G	TCGA-TM-A84M-01A-11D-A36O-08		7577539	73617671	28	36653											
MYH4	4622	broad.mit.edu	37	17	10366488	10366488	+	Nonsense_Mutation	SNP	G	G	A			TCGA-TM-A84M-01A-11D-A36O-08	TCGA-TM-A84M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36fec0f9-4fd0-418c-b67b-bad1d547aef8	73edccc5-3b03-401d-839a-c15d45c3bdaf	g.chr17:10366488G>A	ENST00000255381.2	-	10	933	c.823C>T	c.(823-825)Cga>Tga	p.R275*	RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	275	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						AAAGTAACTCGGGACTTCTCT	0.353													5	52					0	0	1	0	0	A	10366488	G	A	10366488	4	1	470	1	0	0	0	0	0	1	0	0	10085	1124	39	1	5120	1	MYH4	17	10366488	Nonsense_Mutation	SNP	G	TCGA-TM-A84M-01A-11D-A36O-08	2788949	10366488	70828722	29	36654											
KRT15	3866	broad.mit.edu	37	17	39673185	39673185	+	Missense_Mutation	SNP	C	C	T	rs138271368		TCGA-TM-A84M-01A-11D-A36O-08	TCGA-TM-A84M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36fec0f9-4fd0-418c-b67b-bad1d547aef8	73edccc5-3b03-401d-839a-c15d45c3bdaf	g.chr17:39673185C>T	ENST00000254043.3	-	3	4198	c.613G>A	c.(613-615)Gtt>Att	p.V205I	KRT15_ENST00000393976.2_Missense_Mutation_p.V205I|KRT15_ENST00000393981.3_Missense_Mutation_p.V40I|KRT15_ENST00000393974.3_Missense_Mutation_p.V40I	NM_002275.3	NP_002266	P19012	K1C15_HUMAN	keratin 15	205	Coil 1B.|Rod.				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton	p.V205I(3)		NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16		Breast(137;0.000286)				TCAGCCTCAACGCCCTGGCGC	0.612													9	76					0	0	1	0	0	T	39673185	C	T	39673185	3	4	470	1	0	0	0	0	1	0	0	0	8495	536	19	1	781	1	KRT15	17	39673185	Missense_Mutation	SNP	C	TCGA-TM-A84M-01A-11D-A36O-08	29306697	39673185	41522025	30	36655											
ABCA8	10351	broad.mit.edu	37	17	66873682	66873682	+	Missense_Mutation	SNP	C	C	T			TCGA-TM-A84M-01A-11D-A36O-08	TCGA-TM-A84M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36fec0f9-4fd0-418c-b67b-bad1d547aef8	73edccc5-3b03-401d-839a-c15d45c3bdaf	g.chr17:66873682C>T	ENST00000269080.2	-	31	4194	c.4057G>A	c.(4057-4059)Gat>Aat	p.D1353N	ABCA8_ENST00000586539.1_Missense_Mutation_p.D1393N|ABCA8_ENST00000430352.2_Missense_Mutation_p.D1393N	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	1353	ABC transporter 2.					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					ACCTCAGCATCCCCTTTCCTC	0.587													60	148					0	0	1	0	0	T	66873682	C	T	66873682	3	4	470	1	0	0	0	0	1	0	0	0	38	855	30	2	720	2	ABCA8	17	66873682	Missense_Mutation	SNP	C	TCGA-TM-A84M-01A-11D-A36O-08	27200497	66873682	14321528	31	36656											
KIF19	124602	broad.mit.edu	37	17	72341014	72341014	+	Missense_Mutation	SNP	C	C	T	rs145463528	by1000genomes	TCGA-TM-A84M-01A-11D-A36O-08	TCGA-TM-A84M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36fec0f9-4fd0-418c-b67b-bad1d547aef8	73edccc5-3b03-401d-839a-c15d45c3bdaf	g.chr17:72341014C>T	ENST00000389916.4	+	7	835	c.697C>T	c.(697-699)Cgg>Tgg	p.R233W		NM_153209.3	NP_694941.2	Q2TAC6	KIF19_HUMAN	kinesin family member 19	233	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						CCAGCGCAGCCGGGTCAAGAA	0.687													12	48					0	0	1	0	0	T	72341014	C	T	72341014	3	4	470	1	0	0	0	0	1	0	0	0	8324	643	23	1	723	1	KIF19	17	72341014	Missense_Mutation	SNP	C	TCGA-TM-A84M-01A-11D-A36O-08	5467332	72341014	8854196	32	36657											
MUC16	94025	broad.mit.edu	37	19	9049228	9049228	+	Silent	SNP	C	C	T			TCGA-TM-A84M-01A-11D-A36O-08	TCGA-TM-A84M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36fec0f9-4fd0-418c-b67b-bad1d547aef8	73edccc5-3b03-401d-839a-c15d45c3bdaf	g.chr19:9049228C>T	ENST00000397910.4	-	5	32606	c.32403G>A	c.(32401-32403)gcG>gcA	p.A10801A		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10803	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.A10801A(1)|p.A6434A(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TTGTCTTTGCCGCCAAACTGG	0.507													92	99					0	0	1	0	0	T	9049228	C	T	9049228	2	4	470	1	0	0	0	0	0	0	0	1	10021	639	23	1		1	MUC16	19	9049228	Silent	SNP	C	TCGA-TM-A84M-01A-11D-A36O-08		9049228	50079755	33	36658											
CIC	23152	broad.mit.edu	37	19	42791758	42791758	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A84M-01A-11D-A36O-08	TCGA-TM-A84M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36fec0f9-4fd0-418c-b67b-bad1d547aef8	73edccc5-3b03-401d-839a-c15d45c3bdaf	g.chr19:42791758G>A	ENST00000572681.2	+	6	3439	c.3371G>A	c.(3370-3372)cGg>cAg	p.R1124Q	CIC_ENST00000575354.2_Missense_Mutation_p.R215Q|CIC_ENST00000160740.3_Missense_Mutation_p.R215Q			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	215	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	p.R215Q(2)		autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				AAGCGGCACCGGGCCCTGGTC	0.612			"Mis, F, S"		oligodendroglioma								5	22					0	0	1	0	0	A	42791758	G	A	42791758	3	1	470	1	0	0	0	0	1	0	0	0	3446	1116	39	1	662	1	CIC	19	42791758	Missense_Mutation	SNP	G	TCGA-TM-A84M-01A-11D-A36O-08	33742530	42791758	16337225	34	36659											
RSPH1	89765	broad.mit.edu	37	21	43896045	43896045	+	Missense_Mutation	SNP	C	C	A			TCGA-TM-A84M-01A-11D-A36O-08	TCGA-TM-A84M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36fec0f9-4fd0-418c-b67b-bad1d547aef8	73edccc5-3b03-401d-839a-c15d45c3bdaf	g.chr21:43896045C>A	ENST00000291536.3	-	8	1007	c.840G>T	c.(838-840)gaG>gaT	p.E280D	RSPH1_ENST00000398352.3_Missense_Mutation_p.E242D	NM_080860.2	NP_543136.1	Q8WYR4	RSPH1_HUMAN	radial spoke head 1 homolog (Chlamydomonas)	280					meiosis	cytosol|nucleus				large_intestine(7)|lung(2)|ovary(1)|prostate(1)|stomach(1)	12						CCTGGTCATACTCCCGGCTCT	0.637													19	21					1.33834e-09	1.3941e-09	1	1	0	A	43896045	C	A	43896045	3	1	470	1	0	0	0	0	1	0	0	0	13754	564	20	4	97	4	RSPH1	21	43896045	Missense_Mutation	SNP	C	TCGA-TM-A84M-01A-11D-A36O-08		43896045	4233850	35	36660											
SMC1A	8243	broad.mit.edu	37	X	53440235	53440235	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A84M-01A-11D-A36O-08	TCGA-TM-A84M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36fec0f9-4fd0-418c-b67b-bad1d547aef8	73edccc5-3b03-401d-839a-c15d45c3bdaf	g.chrX:53440235G>A	ENST00000322213.4	-	4	689	c.562C>T	c.(562-564)Cgc>Tgc	p.R188C	SMC1A_ENST00000375340.6_Intron	NM_006306.2	NP_006297.2	Q14683	SMC1A_HUMAN	structural maintenance of chromosomes 1A	188					cell cycle checkpoint|cell division|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic sister chromatid cohesion|mitotic spindle organization|negative regulation of DNA endoreduplication|nuclear mRNA splicing, via spliceosome|response to radiation|signal transduction in response to DNA damage	cohesin core heterodimer|condensed chromosome kinetochore|condensed nuclear chromosome|cytoplasm|meiotic cohesin complex|nucleoplasm	ATP binding|chromatin binding|microtubule motor activity|protein heterodimerization activity			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(8)|ovary(5)|upper_aerodigestive_tract(2)	49						TTTTTCTTGCGATGGTAATTA	0.493													57	4					0	0	1	0	0	A	53440235	G	A	53440235	3	1	470	1	0	0	0	0	1	0	0	0	14835	1058	37	1	3227	1	SMC1A	23	53440235	Missense_Mutation	SNP	G	TCGA-TM-A84M-01A-11D-A36O-08		53440235	101830325	36	36661											
SSU72	29101	broad.mit.edu	37	1	1509924	1509924	+	Frame_Shift_Del	DEL	G	G	-			TCGA-TM-A84O-01A-11D-A36O-08	TCGA-TM-A84O-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	043d7b5e-441a-41a1-a59a-4057e486b5e1	b593c768-61c5-483e-a22d-94af00406293	g.chr1:1509924delG	ENST00000359060.4	-	1	40	c.14delC	c.(13-15)ccgfs	p.P5fs	SSU72_ENST00000291386.3_Frame_Shift_Del_p.P5fs			Q9NP77	SSU72_HUMAN	SSU72 RNA polymerase II CTD phosphatase homolog (S. cerevisiae)	5					mRNA processing	cytoplasm|nucleus	phosphoprotein phosphatase activity			large_intestine(2)|lung(5)	7	all_cancers(77;0.00125)|all_epithelial(69;0.000703)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.03e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;5.04e-37)|OV - Ovarian serous cystadenocarcinoma(86;3.72e-23)|GBM - Glioblastoma multiforme(42;1.2e-07)|Colorectal(212;0.000188)|COAD - Colon adenocarcinoma(227;0.000214)|Kidney(185;0.00254)|STAD - Stomach adenocarcinoma(132;0.00645)|BRCA - Breast invasive adenocarcinoma(365;0.00837)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205)		CACCCGCAGCGGGGACGACGG	0.701													2	4	---	---	---	---						-	1509924	G	-	1509924	7	5	471	1	0	1	0	1	0	0	0	0	15258	1116	39	0	590	0	SSU72	1	1509924	Frame_Shift_Del	DEL	G	TCGA-TM-A84O-01A-11D-A36O-08		1509924	247740697	1	36662											
KDM1A	23028	broad.mit.edu	37	1	23356963	23356964	+	Splice_Site	INS	-	-	A			TCGA-TM-A84O-01A-11D-A36O-08	TCGA-TM-A84O-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	043d7b5e-441a-41a1-a59a-4057e486b5e1	b593c768-61c5-483e-a22d-94af00406293	g.chr1:23356963_23356964insA	ENST00000400181.4	+	2	457_458	c.353_354insA	c.(352-357)gtagag>gtAagag	p.E119fs	KDM1A_ENST00000356634.3_Splice_Site_p.E119fs|RP1-184J9.2_ENST00000427154.1_RNA|KDM1A_ENST00000542151.1_Splice_Site_p.E119fs	NM_001009999.2	NP_001009999.1	O60341	KDM1A_HUMAN	lysine (K)-specific demethylase 1A	119					blood coagulation|muscle cell development|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of protein binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nuclear chromatin	androgen receptor binding|chromatin binding|enzyme binding|flavin adenine dinucleotide binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-K9 specific)|ligand-dependent nuclear receptor transcription coactivator activity|MyoD binding|oxidoreductase activity|p53 binding|transcription regulatory region DNA binding			breast(2)|central_nervous_system(2)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						TCCATATAGGTAGAGTACAGAG	0.386													9	8	---	---	---	---						A	23356964	-	A	23356963	8	5	471	1	0	1	1	0	0	0	1	0	8166	1652	57	0	359	0	KDM1A	1	23356963	Splice_Site	INS	-	TCGA-TM-A84O-01A-11D-A36O-08	21847039	23356963	225893658	2	36663											
VIT	5212	broad.mit.edu	37	2	37035867	37035867	+	Missense_Mutation	SNP	C	C	T			TCGA-TM-A84O-01A-11D-A36O-08	TCGA-TM-A84O-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	043d7b5e-441a-41a1-a59a-4057e486b5e1	b593c768-61c5-483e-a22d-94af00406293	g.chr2:37035867C>T	ENST00000379242.3	+	15	1944	c.1642C>T	c.(1642-1644)Cgc>Tgc	p.R548C	VIT_ENST00000379241.3_Missense_Mutation_p.R511C|VIT_ENST00000389975.3_Missense_Mutation_p.R533C|VIT_ENST00000497382.1_Missense_Mutation_p.R202C|VIT_ENST00000404084.1_Missense_Mutation_p.R485C|VIT_ENST00000401530.1_Missense_Mutation_p.R512C	NM_053276.3	NP_444506.2	Q6UXI7	VITRN_HUMAN	vitrin	533	VWFA 2.					proteinaceous extracellular matrix		p.R548S(1)		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)				CACGGACACGCGCATCGGGGC	0.587													19	20					0	0	1	0	0	T	37035867	C	T	37035867	3	4	471	1	0	0	0	0	1	0	0	0	17231	768	27	1	1821	1	VIT	2	37035867	Missense_Mutation	SNP	C	TCGA-TM-A84O-01A-11D-A36O-08		37035867	206163506	3	36664											
THUMPD2	80745	broad.mit.edu	37	2	39997066	39997066	+	Missense_Mutation	SNP	C	C	T			TCGA-TM-A84O-01A-11D-A36O-08	TCGA-TM-A84O-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	043d7b5e-441a-41a1-a59a-4057e486b5e1	b593c768-61c5-483e-a22d-94af00406293	g.chr2:39997066C>T	ENST00000505747.1	-	3	483	c.456G>A	c.(454-456)atG>atA	p.M152I	THUMPD2_ENST00000260619.6_Missense_Mutation_p.M122I|THUMPD2_ENST00000454352.2_Missense_Mutation_p.M122I|THUMPD2_ENST00000403537.3_5'UTR	NM_025264.4	NP_079540.2	Q9BTF0	THUM2_HUMAN	THUMP domain containing 2	152							methyltransferase activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|skin(1)	17		all_hematologic(82;0.248)				CTATCTTTTGCATTTGTTCTA	0.318													10	22					0	0	1	0	0	T	39997066	C	T	39997066	3	4	471	1	0	0	0	0	1	0	0	0	15943	710	25	2	1087	2	THUMPD2	2	39997066	Missense_Mutation	SNP	C	TCGA-TM-A84O-01A-11D-A36O-08	2961199	39997066	203202307	4	36665											
GFPT1	2673	broad.mit.edu	37	2	69554140	69554140	+	Missense_Mutation	SNP	T	T	C			TCGA-TM-A84O-01A-11D-A36O-08	TCGA-TM-A84O-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	043d7b5e-441a-41a1-a59a-4057e486b5e1	b593c768-61c5-483e-a22d-94af00406293	g.chr2:69554140T>C	ENST00000357308.4	-	19	2139	c.1961A>G	c.(1960-1962)aAg>aGg	p.K654R	GFPT1_ENST00000361060.5_Missense_Mutation_p.K636R	NM_001244710.1	NP_001231639.1	Q06210	GFPT1_HUMAN	glutamine--fructose-6-phosphate transaminase 1	654	SIS 2.				dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding			endometrium(1)|large_intestine(3)|lung(5)|skin(3)	12						GTGGGGCACCTTGATCGTTCT	0.473													21	57					0	0	1	0	0	C	69554140	T	C	69554140	3	2	471	1	0	0	0	0	1	0	0	0	6387	1609	56	3	146	3	GFPT1	2	69554140	Missense_Mutation	SNP	T	TCGA-TM-A84O-01A-11D-A36O-08	29557074	69554140	173645233	5	36666											
INO80B	83444	broad.mit.edu	37	2	74682565	74682565	+	Missense_Mutation	SNP	C	C	T			TCGA-TM-A84O-01A-11D-A36O-08	TCGA-TM-A84O-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	043d7b5e-441a-41a1-a59a-4057e486b5e1	b593c768-61c5-483e-a22d-94af00406293	g.chr2:74682565C>T	ENST00000233331.7	+	2	185	c.91C>T	c.(91-93)Cat>Tat	p.H31Y	INO80B_ENST00000469849.1_Intron|INO80B_ENST00000409917.1_Missense_Mutation_p.H31Y	NM_031288.3	NP_112578.2	Q9C086	IN80B_HUMAN	INO80 complex subunit B	31					DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex|nucleolus	metal ion binding|protein binding			endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	13						GGCGGGTGCCCATGGCCATGG	0.567													16	42					0	0	1	0	0	T	74682565	C	T	74682565	3	4	471	1	0	0	0	0	1	0	0	0	7791	594	21	2	97	2	INO80B	2	74682565	Missense_Mutation	SNP	C	TCGA-TM-A84O-01A-11D-A36O-08	5128425	74682565	168516808	6	36667											
EDAR	10913	broad.mit.edu	37	2	109526915	109526915	+	Splice_Site	SNP	C	C	G			TCGA-TM-A84O-01A-11D-A36O-08	TCGA-TM-A84O-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	043d7b5e-441a-41a1-a59a-4057e486b5e1	b593c768-61c5-483e-a22d-94af00406293	g.chr2:109526915C>G	ENST00000409271.1	-	9	1343		c.e9+1		EDAR_ENST00000376651.1_Splice_Site|EDAR_ENST00000258443.2_Splice_Site			Q9UNE0	EDAR_HUMAN	ectodysplasin A receptor						apoptosis|cell differentiation	integral to membrane	protein binding|transmembrane receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16						CTTCCACATACCTCTTGGTGG	0.577													10	7					0	0	1	0	0	G	109526915	C	G	109526915	5	3	471	1	0	0	0	0	0	0	1	0	4931	521	18	5	558	5	EDAR	2	109526915	Splice_Site	SNP	C	TCGA-TM-A84O-01A-11D-A36O-08	34844350	109526915	133672458	7	36668											
B3GALT1	8708	broad.mit.edu	37	2	168725943	168725943	+	Missense_Mutation	SNP	C	C	G			TCGA-TM-A84O-01A-11D-A36O-08	TCGA-TM-A84O-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	043d7b5e-441a-41a1-a59a-4057e486b5e1	b593c768-61c5-483e-a22d-94af00406293	g.chr2:168725943C>G	ENST00000392690.3	+	1	486	c.394C>G	c.(394-396)Caa>Gaa	p.Q132E	B3GALT1_ENST00000305861.1_Missense_Mutation_p.Q132E|AC016723.4_ENST00000430546.1_RNA|AC016723.4_ENST00000436982.2_RNA			Q9Y5Z6	B3GT1_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 1						lipid glycosylation|protein glycosylation	Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			cervix(1)|endometrium(1)|large_intestine(1)|lung(9)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	18						GATGGTGGAGCAAGAGAGCCA	0.478													20	31					0	0	1	0	0	G	168725943	C	G	168725943	3	3	471	1	0	0	0	0	1	0	0	0	1245	711	25	5	396	5	B3GALT1	2	168725943	Missense_Mutation	SNP	C	TCGA-TM-A84O-01A-11D-A36O-08	59199028	168725943	74473430	8	36669											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-TM-A84O-01A-11D-A36O-08	TCGA-TM-A84O-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	043d7b5e-441a-41a1-a59a-4057e486b5e1	b593c768-61c5-483e-a22d-94af00406293	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								18	30					0	0	1	0	0	T	209113112	C	T	209113112	3	4	471	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-TM-A84O-01A-11D-A36O-08	40387169	209113112	34086261	9	36670											
ATP10D	57205	broad.mit.edu	37	4	47537946	47537946	+	Missense_Mutation	SNP	A	A	G			TCGA-TM-A84O-01A-11D-A36O-08	TCGA-TM-A84O-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	043d7b5e-441a-41a1-a59a-4057e486b5e1	b593c768-61c5-483e-a22d-94af00406293	g.chr4:47537946A>G	ENST00000273859.3	+	7	1180	c.911A>G	c.(910-912)aAc>aGc	p.N304S	ATP10D_ENST00000504445.1_Missense_Mutation_p.N304S	NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	304					ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	p.N304T(1)		NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						ATGCTGAACAACAGTGGGCCA	0.408													11	37					0	0	1	0	0	G	47537946	A	G	47537946	3	3	471	1	0	0	0	0	1	0	0	0	1117	43	2	3	933	3	ATP10D	4	47537946	Missense_Mutation	SNP	A	TCGA-TM-A84O-01A-11D-A36O-08		47537946	143616330	10	36671											
TET2	54790	broad.mit.edu	37	4	106157155	106157155	+	Nonsense_Mutation	SNP	A	A	T			TCGA-TM-A84O-01A-11D-A36O-08	TCGA-TM-A84O-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	043d7b5e-441a-41a1-a59a-4057e486b5e1	b593c768-61c5-483e-a22d-94af00406293	g.chr4:106157155A>T	ENST00000513237.1	+	3	2916	c.2119A>T	c.(2119-2121)Aga>Tga	p.R707*	TET2_ENST00000545826.1_Nonsense_Mutation_p.R686*|TET2_ENST00000413648.2_Nonsense_Mutation_p.R686*|TET2_ENST00000540549.1_Nonsense_Mutation_p.R686*|TET2_ENST00000305737.2_Nonsense_Mutation_p.R686*|TET2_ENST00000394764.1_Nonsense_Mutation_p.R686*|TET2_ENST00000380013.4_Nonsense_Mutation_p.R686*			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	686	Gln-rich.				cell cycle|myeloid cell differentiation		metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.F683fs*17(1)|p.R686fs*7(1)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		TTTTCAACAAAGAGCAGATTC	0.423			"Mis N, F"		MDS								28	45					0	0	1	0	0	T	106157155	A	T	106157155	4	4	471	1	0	0	0	0	0	1	0	0	15829	64	3	5	2058	5	TET2	4	106157155	Nonsense_Mutation	SNP	A	TCGA-TM-A84O-01A-11D-A36O-08	58619209	106157155	84997121	11	36672											
INPP4B	8821	broad.mit.edu	37	4	143326450	143326450	+	Missense_Mutation	SNP	C	C	T			TCGA-TM-A84O-01A-11D-A36O-08	TCGA-TM-A84O-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	043d7b5e-441a-41a1-a59a-4057e486b5e1	b593c768-61c5-483e-a22d-94af00406293	g.chr4:143326450C>T	ENST00000513000.1	-	7	597	c.164G>A	c.(163-165)cGt>cAt	p.R55H	INPP4B_ENST00000308502.4_Missense_Mutation_p.R55H|INPP4B_ENST00000506217.1_Missense_Mutation_p.R55H|INPP4B_ENST00000508116.1_Missense_Mutation_p.R55H|INPP4B_ENST00000262992.4_Missense_Mutation_p.R55H|INPP4B_ENST00000509777.1_Missense_Mutation_p.R55H	NM_003866.2	NP_003857.2	O15327	INP4B_HUMAN	inositol polyphosphate-4-phosphatase, type II, 105kDa	55	C2.				signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(29)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58	all_hematologic(180;0.158)					TTTACGATCACGGACAGGAGC	0.517													12	17					0	0	1	0	0	T	143326450	C	T	143326450	3	4	471	1	0	0	0	0	1	0	0	0	7797	536	19	1	2694	1	INPP4B	4	143326450	Missense_Mutation	SNP	C	TCGA-TM-A84O-01A-11D-A36O-08	37169295	143326450	47827826	12	36673											
MAP3K5	4217	broad.mit.edu	37	6	136882674	136882674	+	Silent	SNP	G	G	A			TCGA-TM-A84O-01A-11D-A36O-08	TCGA-TM-A84O-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	043d7b5e-441a-41a1-a59a-4057e486b5e1	b593c768-61c5-483e-a22d-94af00406293	g.chr6:136882674G>A	ENST00000359015.4	-	28	4344	c.3984C>T	c.(3982-3984)agC>agT	p.S1328S	MAP3K5_ENST00000355845.4_Silent_p.S575S	NM_005923.3	NP_005914.1	Q99683	M3K5_HUMAN	mitogen-activated protein kinase kinase kinase 5	1328					activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms		ATP binding|caspase activator activity|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein phosphatase binding			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		TCTTTACCCGGCTTATAGTGT	0.433													3	48					0	0	1	0	0	A	136882674	G	A	136882674	2	1	471	1	0	0	0	0	0	0	0	1	9303	1194	42	2		2	MAP3K5	6	136882674	Silent	SNP	G	TCGA-TM-A84O-01A-11D-A36O-08		136882674	34232393	13	36674											
SPDYE1	285955	broad.mit.edu	37	7	44046924	44046924	+	Missense_Mutation	SNP	C	C	A			TCGA-TM-A84O-01A-11D-A36O-08	TCGA-TM-A84O-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	043d7b5e-441a-41a1-a59a-4057e486b5e1	b593c768-61c5-483e-a22d-94af00406293	g.chr7:44046924C>A	ENST00000258704.3	+	5	827	c.690C>A	c.(688-690)caC>caA	p.H230Q	RP5-1165K10.2_ENST00000454572.1_RNA|AC004951.6_ENST00000447643.1_lincRNA|POLR2J4_ENST00000427076.1_RNA	NM_001099435.2|NM_175064.2	NP_001092905.2|NP_778234.2	Q8NFV5	SPDE1_HUMAN	speedy/RINGO cell cycle regulator family member E1	230										endometrium(1)|kidney(4)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	11						ACATCTTCCACTTCCTGTATG	0.557													57	84					1.45723e-30	1.58581e-30	1	1	0	A	44046924	C	A	44046924	3	1	471	1	0	0	0	0	1	0	0	0	15085	564	20	4	708	4	SPDYE1	7	44046924	Missense_Mutation	SNP	C	TCGA-TM-A84O-01A-11D-A36O-08		44046924	115091739	14	36675											
OSR2	116039	broad.mit.edu	37	8	99961351	99961351	+	Silent	SNP	G	G	A			TCGA-TM-A84O-01A-11D-A36O-08	TCGA-TM-A84O-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	043d7b5e-441a-41a1-a59a-4057e486b5e1	b593c768-61c5-483e-a22d-94af00406293	g.chr8:99961351G>A	ENST00000297565.4	+	2	667	c.171G>A	c.(169-171)ggG>ggA	p.G57G	OSR2_ENST00000457907.2_Silent_p.G178G|OSR2_ENST00000522510.1_Silent_p.G57G|OSR2_ENST00000523368.1_Silent_p.G57G|OSR2_ENST00000435298.2_Silent_p.G57G	NM_001142462.1	NP_001135934.1	Q8N2R0	OSR2_HUMAN	odd-skipped related transciption factor 2	57					bone morphogenesis|chondrocyte differentiation|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic leg joint morphogenesis|embryonic skeletal joint morphogenesis|eyelid development in camera-type eye|head development|mesonephros development|metanephros development|middle ear morphogenesis|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|osteoblast proliferation|palate development|positive regulation of bone mineralization|positive regulation of epithelial cell proliferation|positive regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Breast(36;4.14e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.0136)			GGACGCTGGGGTATCCCAATG	0.657													18	29					0	0	1	0	0	A	99961351	G	A	99961351	2	1	471	1	0	0	0	0	0	0	0	1	11341	1248	44	2		2	OSR2	8	99961351	Silent	SNP	G	TCGA-TM-A84O-01A-11D-A36O-08		99961351	46402671	15	36676											
DLG5	9231	broad.mit.edu	37	10	79581312	79581312	+	Missense_Mutation	SNP	T	T	C			TCGA-TM-A84O-01A-11D-A36O-08	TCGA-TM-A84O-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	043d7b5e-441a-41a1-a59a-4057e486b5e1	b593c768-61c5-483e-a22d-94af00406293	g.chr10:79581312T>C	ENST00000372391.2	-	15	2935	c.2930A>G	c.(2929-2931)aAc>aGc	p.N977S	DLG5_ENST00000372388.2_Intron	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	977					cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			TTTGAAAGTGTTAGGGTCAAA	0.577													11	57					0	0	1	0	0	C	79581312	T	C	79581312	3	2	471	1	0	0	0	0	1	0	0	0	4586	1725	60	3	2901	3	DLG5	10	79581312	Missense_Mutation	SNP	T	TCGA-TM-A84O-01A-11D-A36O-08		79581312	55953435	16	36677											
OR4C13	283092	broad.mit.edu	37	11	49974112	49974112	+	Silent	SNP	C	C	T			TCGA-TM-A84O-01A-11D-A36O-08	TCGA-TM-A84O-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	043d7b5e-441a-41a1-a59a-4057e486b5e1	b593c768-61c5-483e-a22d-94af00406293	g.chr11:49974112C>T	ENST00000555099.1	+	1	170	c.138C>T	c.(136-138)acC>acT	p.T46T		NM_001001955.2	NP_001001955.2	Q8NGP0	OR4CD_HUMAN	olfactory receptor, family 4, subfamily C, member 13	46					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	43						TTGTGGTCACCATCACTGCCA	0.438													49	85					0	0	1	0	0	T	49974112	C	T	49974112	2	4	471	1	0	0	0	0	0	0	0	1	11095	581	21	2		2	OR4C13	11	49974112	Silent	SNP	C	TCGA-TM-A84O-01A-11D-A36O-08		49974112	85032404	17	36678											
OR1S2	219958	broad.mit.edu	37	11	57971059	57971059	+	Missense_Mutation	SNP	T	T	C			TCGA-TM-A84O-01A-11D-A36O-08	TCGA-TM-A84O-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	043d7b5e-441a-41a1-a59a-4057e486b5e1	b593c768-61c5-483e-a22d-94af00406293	g.chr11:57971059T>C	ENST00000302592.6	-	1	594	c.595A>G	c.(595-597)Aaa>Gaa	p.K199E		NM_001004459.1	NP_001004459.1	Q8NGQ3	OR1S2_HUMAN	olfactory receptor, family 1, subfamily S, member 2	199					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(11)|kidney(1)|large_intestine(4)|lung(23)|ovary(2)|skin(2)|stomach(2)|urinary_tract(1)	46		Breast(21;0.0589)				CAGGACAGTTTGAGCAGAGGG	0.413													33	75					0	0	1	0	0	C	57971059	T	C	57971059	3	2	471	1	0	0	0	0	1	0	0	0	11021	1821	63	3	385	3	OR1S2	11	57971059	Missense_Mutation	SNP	T	TCGA-TM-A84O-01A-11D-A36O-08	7996947	57971059	77035457	18	36679											
FAM111A	63901	broad.mit.edu	37	11	58919526	58919526	+	Missense_Mutation	SNP	C	C	T			TCGA-TM-A84O-01A-11D-A36O-08	TCGA-TM-A84O-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	043d7b5e-441a-41a1-a59a-4057e486b5e1	b593c768-61c5-483e-a22d-94af00406293	g.chr11:58919526C>T	ENST00000528737.1	+	5	3203	c.385C>T	c.(385-387)Cgt>Tgt	p.R129C	FAM111A_ENST00000531147.1_Missense_Mutation_p.R129C|FAM111A_ENST00000361723.3_Missense_Mutation_p.R129C|FAM111A_ENST00000533703.1_Missense_Mutation_p.R129C|FAM111A_ENST00000420244.1_Missense_Mutation_p.R129C			Q96PZ2	F111A_HUMAN	family with sequence similarity 111, member A	129					proteolysis		serine-type endopeptidase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_epithelial(135;0.139)				AATGCTTGTGCGTGGCACAGA	0.443													17	31					0	0	1	0	0	T	58919526	C	T	58919526	3	4	471	1	0	0	0	0	1	0	0	0	5430	768	27	1	391	1	FAM111A	11	58919526	Missense_Mutation	SNP	C	TCGA-TM-A84O-01A-11D-A36O-08	948467	58919526	76086990	19	36680											
MSRB3	253827	broad.mit.edu	37	12	65847524	65847524	+	Silent	SNP	C	C	T	rs140600679		TCGA-TM-A84O-01A-11D-A36O-08	TCGA-TM-A84O-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	043d7b5e-441a-41a1-a59a-4057e486b5e1	b593c768-61c5-483e-a22d-94af00406293	g.chr12:65847524C>T	ENST00000308259.5	+	6	583	c.309C>T	c.(307-309)caC>caT	p.H103H	MSRB3_ENST00000355192.3_Silent_p.H110H|MSRB3_ENST00000540804.1_Silent_p.H110H|MSRB3_ENST00000535664.1_Silent_p.H103H	NM_001031679.2|NM_001193460.1	NP_001026849.1|NP_001180389.1	Q8IXL7	MSRB3_HUMAN	methionine sulfoxide reductase B3	110					protein repair	endoplasmic reticulum|mitochondrion	peptide-methionine-(S)-S-oxide reductase activity|protein-methionine-R-oxide reductase activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)	13			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.131)		CTTCATTCCACGATGTGATCA	0.448													20	24					0	0	1	0	0	T	65847524	C	T	65847524	2	4	471	1	0	0	0	0	0	0	0	1	9937	535	19	1		1	MSRB3	12	65847524	Silent	SNP	C	TCGA-TM-A84O-01A-11D-A36O-08		65847524	68004371	20	36681											
VEZT	55591	broad.mit.edu	37	12	95694120	95694120	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A84O-01A-11D-A36O-08	TCGA-TM-A84O-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	043d7b5e-441a-41a1-a59a-4057e486b5e1	b593c768-61c5-483e-a22d-94af00406293	g.chr12:95694120G>A	ENST00000436874.1	+	12	2116	c.2011G>A	c.(2011-2013)Ggt>Agt	p.G671S	VEZT_ENST00000261219.6_Missense_Mutation_p.G623S|VEZT_ENST00000356859.4_3'UTR	NM_017599.3	NP_060069.3	Q9HBM0	VEZA_HUMAN	vezatin, adherens junctions transmembrane protein	671						acrosomal vesicle|adherens junction|integral to membrane|nucleus				endometrium(2)|kidney(3)|large_intestine(1)|lung(14)|ovary(2)|upper_aerodigestive_tract(1)	23						CTCTCTAGAAGGTAAAAATAA	0.353													6	8					0	0	1	0	0	A	95694120	G	A	95694120	3	1	471	1	0	0	0	0	1	0	0	0	17216	1000	35	2	2057	2	VEZT	12	95694120	Missense_Mutation	SNP	G	TCGA-TM-A84O-01A-11D-A36O-08	29846596	95694120	38157775	21	36682											
C14orf105	55195	broad.mit.edu	37	14	57960220	57960220	+	Missense_Mutation	SNP	A	A	G			TCGA-TM-A84O-01A-11D-A36O-08	TCGA-TM-A84O-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	043d7b5e-441a-41a1-a59a-4057e486b5e1	b593c768-61c5-483e-a22d-94af00406293	g.chr14:57960220A>G	ENST00000216445.3	-	1	350	c.214T>C	c.(214-216)Tat>Cat	p.Y72H	C14orf105_ENST00000534126.1_Missense_Mutation_p.Y72H|C14orf105_ENST00000526336.1_Missense_Mutation_p.Y72H|C14orf105_ENST00000422976.2_Missense_Mutation_p.Y72H	NM_001283057.1|NM_018168.2	NP_001269986.1|NP_060638.2	Q9NVL8	CN105_HUMAN	chromosome 14 open reading frame 105	72										breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)	11						CCTGTAGAATATCTTCCATAC	0.408													26	32					0	0	1	0	0	G	57960220	A	G	57960220	3	3	471	1	0	0	0	0	1	0	0	0	1743	449	16	3	700	3	C14orf105	14	57960220	Missense_Mutation	SNP	A	TCGA-TM-A84O-01A-11D-A36O-08		57960220	49389320	22	36683											
MGA	23269	broad.mit.edu	37	15	42058595	42058595	+	Missense_Mutation	SNP	A	A	C			TCGA-TM-A84O-01A-11D-A36O-08	TCGA-TM-A84O-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	043d7b5e-441a-41a1-a59a-4057e486b5e1	b593c768-61c5-483e-a22d-94af00406293	g.chr15:42058595A>C	ENST00000219905.7	+	24	8496	c.8315A>C	c.(8314-8316)gAt>gCt	p.D2772A	MGA_ENST00000570161.1_Missense_Mutation_p.D2772A|MGA_ENST00000566586.1_Missense_Mutation_p.D2563A|MGA_ENST00000545763.1_Missense_Mutation_p.D2563A|MGA_ENST00000389936.4_Missense_Mutation_p.D2733A	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN	MGA, MAX dimerization protein	2733						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		AAGTCAAAGGATTCTTCATTT	0.378													3	12					0	0	1	0	0	C	42058595	A	C	42058595	3	2	471	1	0	0	0	0	1	0	0	0	9590	333	12	4	8405	4	MGA	15	42058595	Missense_Mutation	SNP	A	TCGA-TM-A84O-01A-11D-A36O-08		42058595	60472797	23	36684											
MYO5A	4644	broad.mit.edu	37	15	52668651	52668651	+	Silent	SNP	G	G	A			TCGA-TM-A84O-01A-11D-A36O-08	TCGA-TM-A84O-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	043d7b5e-441a-41a1-a59a-4057e486b5e1	b593c768-61c5-483e-a22d-94af00406293	g.chr15:52668651G>A	ENST00000399231.3	-	19	2556	c.2313C>T	c.(2311-2313)atC>atT	p.I771I	MYO5A_ENST00000399233.2_Silent_p.I771I|MYO5A_ENST00000356338.6_Silent_p.I771I|MYO5A_ENST00000358212.6_Silent_p.I771I|MYO5A_ENST00000553916.1_Silent_p.I771I	NM_000259.3	NP_000250	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)	771	IQ 1.				actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		TCTGGATCCGGATGCAGGCAG	0.517													12	32					0	0	1	0	0	A	52668651	G	A	52668651	2	1	471	1	0	0	0	0	0	0	0	1	10126	1164	41	2		2	MYO5A	15	52668651	Silent	SNP	G	TCGA-TM-A84O-01A-11D-A36O-08	10610056	52668651	49862741	24	36685											
MYO15A	51168	broad.mit.edu	37	17	18025715	18025715	+	Missense_Mutation	SNP	C	C	T			TCGA-TM-A84O-01A-11D-A36O-08	TCGA-TM-A84O-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	043d7b5e-441a-41a1-a59a-4057e486b5e1	b593c768-61c5-483e-a22d-94af00406293	g.chr17:18025715C>T	ENST00000205890.5	+	2	3939	c.3601C>T	c.(3601-3603)Cgg>Tgg	p.R1201W		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	1201	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					GCCAAGCTGGCGGAACAAGGT	0.632													11	22					0	0	1	0	0	T	18025715	C	T	18025715	3	4	471	1	0	0	0	0	1	0	0	0	10111	759	27	1	3603	1	MYO15A	17	18025715	Missense_Mutation	SNP	C	TCGA-TM-A84O-01A-11D-A36O-08		18025715	63169495	25	36686											
ZNF652	22834	broad.mit.edu	37	17	47394244	47394244	+	Missense_Mutation	SNP	C	C	T			TCGA-TM-A84O-01A-11D-A36O-08	TCGA-TM-A84O-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	043d7b5e-441a-41a1-a59a-4057e486b5e1	b593c768-61c5-483e-a22d-94af00406293	g.chr17:47394244C>T	ENST00000362063.2	-	2	1162	c.844G>A	c.(844-846)Gtc>Atc	p.V282I	ZNF652_ENST00000430262.2_Missense_Mutation_p.V282I	NM_014897.2	NP_055712.1	Q9Y2D9	ZN652_HUMAN	zinc finger protein 652	282					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	20	all_cancers(4;6.81e-14)|Breast(4;4.97e-29)|all_epithelial(4;1.53e-17)		BRCA - Breast invasive adenocarcinoma(1;3.1e-14)|Epithelial(5;2.92e-06)|all cancers(6;3.15e-05)			CTTTCCAGGACAAACTTCTTG	0.453													24	50					0	0	1	0	0	T	47394244	C	T	47394244	3	4	471	1	0	0	0	0	1	0	0	0	18122	478	17	2	996	2	ZNF652	17	47394244	Missense_Mutation	SNP	C	TCGA-TM-A84O-01A-11D-A36O-08	29368529	47394244	33800966	26	36687											
CIC	23152	broad.mit.edu	37	19	42798120	42798121	+	Frame_Shift_Ins	INS	-	-	T			TCGA-TM-A84O-01A-11D-A36O-08	TCGA-TM-A84O-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	043d7b5e-441a-41a1-a59a-4057e486b5e1	b593c768-61c5-483e-a22d-94af00406293	g.chr19:42798120_42798121insT	ENST00000572681.2	+	18	6860_6861	c.6792_6793insT	c.(6793-6795)tttfs	p.F2265fs	CIC_ENST00000160740.3_Frame_Shift_Ins_p.F1357fs|CIC_ENST00000575354.2_Frame_Shift_Ins_p.F1359fs			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	1359					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				TCGAAGAGCGCTTTGCTGAGTT	0.663			"Mis, F, S"		oligodendroglioma								34	22	---	---	---	---						T	42798121	-	T	42798120	7	5	471	1	0	1	1	0	0	0	0	0	3446	784	28	0	4140	0	CIC	19	42798120	Frame_Shift_Ins	INS	-	TCGA-TM-A84O-01A-11D-A36O-08		42798120	16330863	27	36688											
ZNF350	59348	broad.mit.edu	37	19	52468457	52468457	+	Silent	SNP	G	G	A			TCGA-TM-A84O-01A-11D-A36O-08	TCGA-TM-A84O-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	043d7b5e-441a-41a1-a59a-4057e486b5e1	b593c768-61c5-483e-a22d-94af00406293	g.chr19:52468457G>A	ENST00000243644.4	-	5	1476	c.1249C>T	c.(1249-1251)Ctg>Ttg	p.L417L	HCCAT3_ENST00000595010.1_RNA|HCCAT3_ENST00000600253.1_RNA	NM_021632.3	NP_067645.3	Q9GZX5	ZN350_HUMAN	zinc finger protein 350	417					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix|transcriptional repressor complex	DNA binding|protein binding|zinc ion binding			breast(4)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		all_neural(266;0.0505)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0179)		TGCTTAACCAGACACGACATA	0.468													18	13					0	0	1	0	0	A	52468457	G	A	52468457	2	1	471	1	0	0	0	0	0	0	0	1	17920	933	33	2		2	ZNF350	19	52468457	Silent	SNP	G	TCGA-TM-A84O-01A-11D-A36O-08	9670337	52468457	6660526	28	36689											
ASXL1	171023	broad.mit.edu	37	20	31022401	31022402	+	Frame_Shift_Del	DEL	GT	GT	-			TCGA-TM-A84O-01A-11D-A36O-08	TCGA-TM-A84O-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	043d7b5e-441a-41a1-a59a-4057e486b5e1	b593c768-61c5-483e-a22d-94af00406293	g.chr20:31022401_31022402delGT	ENST00000375687.4	+	13	2310_2311	c.1886_1887delGT	c.(1885-1887)ggtfs	p.G629fs	ASXL1_ENST00000306058.5_Frame_Shift_Del_p.G624fs	NM_015338.5	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like 1 (Drosophila)	629					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						GGGGCGAGAGGTCACCACTGCC	0.698			"F, N, Mis"		"MDS, CMML"								10	11	---	---	---	---						-	31022402	GT	-	31022401	7	5	471	1	0	1	0	1	0	0	0	0	1065	1261	44	0	1942	0	ASXL1	20	31022401	Frame_Shift_Del	DEL	GT	TCGA-TM-A84O-01A-11D-A36O-08		31022401	32003119	29	36690											
STX16	8675	broad.mit.edu	37	20	57251288	57251288	+	Missense_Mutation	SNP	A	A	G			TCGA-TM-A84O-01A-11D-A36O-08	TCGA-TM-A84O-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	043d7b5e-441a-41a1-a59a-4057e486b5e1	b593c768-61c5-483e-a22d-94af00406293	g.chr20:57251288A>G	ENST00000371141.4	+	9	1643	c.919A>G	c.(919-921)Ata>Gta	p.I307V	STX16_ENST00000361830.3_Missense_Mutation_p.I307V|STX16_ENST00000359617.4_Missense_Mutation_p.I254V|STX16_ENST00000371132.4_Missense_Mutation_p.I286V|STX16_ENST00000361770.5_Missense_Mutation_p.I290V|STX16_ENST00000355957.5_Missense_Mutation_p.I290V|STX16_ENST00000358029.4_Missense_Mutation_p.I303V|STX16-NPEPL1_ENST00000530122.1_Intron	NM_001001433.2	NP_001001433.1	O14662	STX16_HUMAN	syntaxin 16	307					intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde transport, endosome to Golgi	Golgi membrane|integral to membrane|microsome|SNARE complex	SNAP receptor activity			breast(1)|cervix(1)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(1)	17	all_lung(29;0.0175)		BRCA - Breast invasive adenocarcinoma(13;3.73e-09)|Epithelial(14;8.54e-06)|all cancers(14;6.89e-05)			TGTGATTTTAATATTATTTGT	0.433													17	42					0	0	1	0	0	G	57251288	A	G	57251288	3	3	471	1	0	0	0	0	1	0	0	0	15395	101	4	3	953	3	STX16	20	57251288	Missense_Mutation	SNP	A	TCGA-TM-A84O-01A-11D-A36O-08	26228887	57251288	5774232	30	36691											
RIPK4	54101	broad.mit.edu	37	21	43161344	43161344	+	Missense_Mutation	SNP	C	C	T			TCGA-TM-A84O-01A-11D-A36O-08	TCGA-TM-A84O-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	043d7b5e-441a-41a1-a59a-4057e486b5e1	b593c768-61c5-483e-a22d-94af00406293	g.chr21:43161344C>T	ENST00000352483.2	-	9	2217	c.2153G>A	c.(2152-2154)gGc>gAc	p.G718D	AP001615.9_ENST00000423276.1_RNA|RIPK4_ENST00000544709.1_Missense_Mutation_p.G607D|RIPK4_ENST00000332512.3_Missense_Mutation_p.G670D|RIPK4_ENST00000542057.1_Missense_Mutation_p.G607D			Q96T11	Q96T11_HUMAN	receptor-interacting serine-threonine kinase 4	670						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						AGCGGTGTAGCCGTCTGAGGT	0.682													20	45					0	0	1	0	0	T	43161344	C	T	43161344	3	4	471	1	0	0	0	0	1	0	0	0	13435	739	26	2	349	2	RIPK4	21	43161344	Missense_Mutation	SNP	C	TCGA-TM-A84O-01A-11D-A36O-08		43161344	4968551	31	36692											
CCT8L2	150160	broad.mit.edu	37	22	17073351	17073351	+	Silent	SNP	C	C	T			TCGA-TM-A84O-01A-11D-A36O-08	TCGA-TM-A84O-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	043d7b5e-441a-41a1-a59a-4057e486b5e1	b593c768-61c5-483e-a22d-94af00406293	g.chr22:17073351C>T	ENST00000359963.3	-	1	349	c.90G>A	c.(88-90)gaG>gaA	p.E30E		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	30					cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity			breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				GCAGGTGGGGCTCCTCCTCTT	0.657													14	22					0	0	1	0	0	T	17073351	C	T	17073351	2	4	471	1	0	0	0	0	0	0	0	1	2983	796	28	2		2	CCT8L2	22	17073351	Silent	SNP	C	TCGA-TM-A84O-01A-11D-A36O-08		17073351	34231215	32	36693											
FAM47B	170062	broad.mit.edu	37	X	34962775	34962775	+	Missense_Mutation	SNP	G	G	C			TCGA-TM-A84O-01A-11D-A36O-08	TCGA-TM-A84O-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	043d7b5e-441a-41a1-a59a-4057e486b5e1	b593c768-61c5-483e-a22d-94af00406293	g.chrX:34962775G>C	ENST00000329357.5	+	1	1863	c.1827G>C	c.(1825-1827)aaG>aaC	p.K609N		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	609										breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						TCATTGAAAAGCTGTTTGCCA	0.438													49	86					0	0	1	0	0	C	34962775	G	C	34962775	3	2	471	1	0	0	0	0	1	0	0	0	5606	962	34	4	1829	4	FAM47B	23	34962775	Missense_Mutation	SNP	G	TCGA-TM-A84O-01A-11D-A36O-08		34962775	120307785	33	36694											
AMPD1	270	broad.mit.edu	37	1	115231190	115231190	+	Missense_Mutation	SNP	T	T	G			TCGA-TM-A84Q-01A-11D-A36O-08	TCGA-TM-A84Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9569f2bb-c8ba-4984-984d-9637e61ccd9e	27e25791-6c86-485b-9dc6-47ce27fde7df	g.chr1:115231190T>G	ENST00000369538.3	-	2	341	c.294A>C	c.(292-294)gaA>gaC	p.E98D	AMPD1_ENST00000520113.2_Missense_Mutation_p.E102D|AMPD1_ENST00000353928.6_Missense_Mutation_p.E69D	NM_001172626.1	NP_001166097.1	P23109	AMPD1_HUMAN	adenosine monophosphate deaminase 1	69					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	Adenosine monophosphate(DB00131)	ACCTCCTGGCTTCTGTGGAGG	0.463													8	84					0	0	1	0	0	G	115231190	T	G	115231190	3	3	472	1	0	0	0	0	1	0	0	0	581	1606	56	5	2092	5	AMPD1	1	115231190	Missense_Mutation	SNP	T	TCGA-TM-A84Q-01A-11D-A36O-08		115231190	134019431	1	36695											
CSDE1	7812	broad.mit.edu	37	1	115282476	115282476	+	Silent	SNP	T	T	C			TCGA-TM-A84Q-01A-11D-A36O-08	TCGA-TM-A84Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9569f2bb-c8ba-4984-984d-9637e61ccd9e	27e25791-6c86-485b-9dc6-47ce27fde7df	g.chr1:115282476T>C	ENST00000438362.2	-	3	552	c.174A>G	c.(172-174)ggA>ggG	p.G58G	CSDE1_ENST00000358528.4_Silent_p.G12G|CSDE1_ENST00000369530.1_Silent_p.G58G|CSDE1_ENST00000530886.1_Intron|CSDE1_ENST00000261443.5_Silent_p.G12G|CSDE1_ENST00000339438.6_Silent_p.G12G|CSDE1_ENST00000534699.1_Silent_p.G12G	NM_001242891.1	NP_001229820.1	O75534	CSDE1_HUMAN	cold shock domain containing E1, RNA-binding	12	CSD 1.				male gonad development|regulation of transcription, DNA-dependent	cytoplasm	DNA binding|protein binding|RNA binding			NS(1)|breast(4)|endometrium(11)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	51	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;2.21e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		ACCCATTATGTCCATTGTTGT	0.368													13	314					0	0	1	0	0	C	115282476	T	C	115282476	2	2	472	1	0	0	0	0	0	0	0	1	3954	1654	58	3		3	CSDE1	1	115282476	Silent	SNP	T	TCGA-TM-A84Q-01A-11D-A36O-08	51286	115282476	133968145	2	36696											
HSD3B1	3283	broad.mit.edu	37	1	120056459	120056459	+	Missense_Mutation	SNP	A	A	G			TCGA-TM-A84Q-01A-11D-A36O-08	TCGA-TM-A84Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9569f2bb-c8ba-4984-984d-9637e61ccd9e	27e25791-6c86-485b-9dc6-47ce27fde7df	g.chr1:120056459A>G	ENST00000235547.6	+	4	458	c.319A>G	c.(319-321)Acc>Gcc	p.T107A	HSD3B1_ENST00000528909.1_Missense_Mutation_p.T105A|HSD3B1_ENST00000369413.3_Missense_Mutation_p.T105A	NM_000862.2	NP_000853.1	P14060	3BHS1_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1	105					androgen biosynthetic process|estrogen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process	integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(18)|ovary(2)|prostate(1)|skin(1)	32	all_neural(166;0.219)	all_lung(203;3.16e-06)|Lung NSC(69;2.19e-05)|all_epithelial(167;0.000624)		Lung(183;0.0106)|LUSC - Lung squamous cell carcinoma(189;0.0554)	NADH(DB00157)|Trilostane(DB01108)	ATGGACAGGTACCCAGCTCCT	0.507													5	292					0	0	1	0	0	G	120056459	A	G	120056459	3	3	472	1	0	0	0	0	1	0	0	0	7431	391	14	3	323	3	HSD3B1	1	120056459	Missense_Mutation	SNP	A	TCGA-TM-A84Q-01A-11D-A36O-08	4773983	120056459	129194162	3	36697											
PGLYRP4	57115	broad.mit.edu	37	1	153317725	153317725	+	Missense_Mutation	SNP	G	G	T			TCGA-TM-A84Q-01A-11D-A36O-08	TCGA-TM-A84Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9569f2bb-c8ba-4984-984d-9637e61ccd9e	27e25791-6c86-485b-9dc6-47ce27fde7df	g.chr1:153317725G>T	ENST00000368739.3	-	4	619	c.261C>A	c.(259-261)gaC>gaA	p.D87E	PGLYRP4_ENST00000359650.5_Missense_Mutation_p.D91E|PGLYRP4_ENST00000490266.1_5'UTR			Q96LB8	PGRP4_HUMAN	peptidoglycan recognition protein 4	91					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			breast(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	23	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			AGACTGTCTGGTCGTGACACT	0.562													15	29					0.000219431	0.000232866	1	1	0	T	153317725	G	T	153317725	3	4	472	1	0	0	0	0	1	0	0	0	11844	1252	44	5	872	5	PGLYRP4	1	153317725	Missense_Mutation	SNP	G	TCGA-TM-A84Q-01A-11D-A36O-08	33261266	153317725	95932896	4	36698											
HMCN1	83872	broad.mit.edu	37	1	186057402	186057402	+	Missense_Mutation	SNP	C	C	T			TCGA-TM-A84Q-01A-11D-A36O-08	TCGA-TM-A84Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9569f2bb-c8ba-4984-984d-9637e61ccd9e	27e25791-6c86-485b-9dc6-47ce27fde7df	g.chr1:186057402C>T	ENST00000271588.4	+	62	9800	c.9571C>T	c.(9571-9573)Cgc>Tgc	p.R3191C	HMCN1_ENST00000367492.2_Missense_Mutation_p.R3191C	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	3191	Ig-like C2-type 30.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GAACCACAAGCGCATAGGTAA	0.418													23	28					0	0	1	0	0	T	186057402	C	T	186057402	3	4	472	1	0	0	0	0	1	0	0	0	7261	768	27	1	9817	1	HMCN1	1	186057402	Missense_Mutation	SNP	C	TCGA-TM-A84Q-01A-11D-A36O-08	32739677	186057402	63193219	5	36699											
KDM5B	10765	broad.mit.edu	37	1	202727567	202727567	+	Silent	SNP	C	C	A			TCGA-TM-A84Q-01A-11D-A36O-08	TCGA-TM-A84Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9569f2bb-c8ba-4984-984d-9637e61ccd9e	27e25791-6c86-485b-9dc6-47ce27fde7df	g.chr1:202727567C>A	ENST00000367265.3	-	9	2313	c.1149G>T	c.(1147-1149)ggG>ggT	p.G383G	KDM5B_ENST00000367264.2_Silent_p.G419G|KDM5B_ENST00000456180.1_5'UTR	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B	383					negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						CTGCCATTTCCCCAAAAGTAC	0.378													11	21					0.00010058	0.000108962	1	1	0	A	202727567	C	A	202727567	2	1	472	1	0	0	0	0	0	0	0	1	8177	610	22	5		5	KDM5B	1	202727567	Silent	SNP	C	TCGA-TM-A84Q-01A-11D-A36O-08	16670165	202727567	46523054	6	36700											
C4BPA	722	broad.mit.edu	37	1	207288791	207288791	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A84Q-01A-11D-A36O-08	TCGA-TM-A84Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9569f2bb-c8ba-4984-984d-9637e61ccd9e	27e25791-6c86-485b-9dc6-47ce27fde7df	g.chr1:207288791G>A	ENST00000367070.3	+	4	553	c.359G>A	c.(358-360)cGt>cAt	p.R120H		NM_000715.3	NP_000706.1	P04003	C4BPA_HUMAN	complement component 4 binding protein, alpha	120	Sushi 2.				complement activation, classical pathway|innate immune response	extracellular region	protein binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(1)|urinary_tract(2)	28						GGAGAGTTACGTAATGGGCAA	0.363													13	20					0	0	1	0	0	A	207288791	G	A	207288791	3	1	472	1	0	0	0	0	1	0	0	0	2264	1145	40	1	369	1	C4BPA	1	207288791	Missense_Mutation	SNP	G	TCGA-TM-A84Q-01A-11D-A36O-08	4561224	207288791	41961830	7	36701											
HHIPL2	79802	broad.mit.edu	37	1	222715496	222715496	+	Splice_Site	SNP	C	C	G			TCGA-TM-A84Q-01A-11D-A36O-08	TCGA-TM-A84Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9569f2bb-c8ba-4984-984d-9637e61ccd9e	27e25791-6c86-485b-9dc6-47ce27fde7df	g.chr1:222715496C>G	ENST00000343410.6	-	3	1034	c.976G>C	c.(976-978)Gtc>Ctc	p.V326L		NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN	HHIP-like 2	326					carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding			NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		TCCAAGATGACCCTGGAAGAG	0.473													4	44					0	0	1	0	0	G	222715496	C	G	222715496	5	3	472	1	0	0	0	0	0	0	1	0	7135	521	18	5	1226	5	HHIPL2	1	222715496	Splice_Site	SNP	C	TCGA-TM-A84Q-01A-11D-A36O-08	15426705	222715496	26535125	8	36702											
GEN1	348654	broad.mit.edu	37	2	17954555	17954557	+	In_Frame_Del	DEL	TTA	TTA	-			TCGA-TM-A84Q-01A-11D-A36O-08	TCGA-TM-A84Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9569f2bb-c8ba-4984-984d-9637e61ccd9e	27e25791-6c86-485b-9dc6-47ce27fde7df	g.chr2:17954555_17954557delTTA	ENST00000381254.2	+	10	1274_1276	c.1060_1062delTTA	c.(1060-1062)ttadel	p.L355del	GEN1_ENST00000317402.7_In_Frame_Del_p.L355del|SMC6_ENST00000402989.1_Intron	NM_001130009.1	NP_001123481.1	Q17RS7	GEN_HUMAN	GEN1 Holliday junction 5' flap endonuclease	355					DNA repair	nucleus	DNA binding|endonuclease activity|metal ion binding			breast(6)|central_nervous_system(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					ACCTGATTTGTTATTGTTTCAGG	0.32								Homologous recombination					14	43	---	---	---	---						-	17954557	TTA	-	17954555	7	5	472	1	0	1	0	1	0	0	0	0	6377	1722	60	0	1094	0	GEN1	2	17954555	In_Frame_Del	DEL	TTA	TCGA-TM-A84Q-01A-11D-A36O-08		17954555	225244818	9	36703											
FAP	2191	broad.mit.edu	37	2	163030247	163030247	+	Missense_Mutation	SNP	G	G	C			TCGA-TM-A84Q-01A-11D-A36O-08	TCGA-TM-A84Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9569f2bb-c8ba-4984-984d-9637e61ccd9e	27e25791-6c86-485b-9dc6-47ce27fde7df	g.chr2:163030247G>C	ENST00000188790.4	-	23	2227	c.2020C>G	c.(2020-2022)Ctt>Gtt	p.L674V	FAP_ENST00000443424.1_Missense_Mutation_p.L649V	NM_004460.2	NP_004451.2	Q12884	SEPR_HUMAN	fibroblast activation protein, alpha	674					endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis	cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane	dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)	63						TAGTGCTCAAGATTATCATCC	0.299													6	134					0	0	1	0	0	C	163030247	G	C	163030247	3	2	472	1	0	0	0	0	1	0	0	0	5706	942	33	4	278	4	FAP	2	163030247	Missense_Mutation	SNP	G	TCGA-TM-A84Q-01A-11D-A36O-08	145075692	163030247	80169126	10	36704											
TTC30B	150737	broad.mit.edu	37	2	178417043	178417043	+	Missense_Mutation	SNP	C	C	A			TCGA-TM-A84Q-01A-11D-A36O-08	TCGA-TM-A84Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9569f2bb-c8ba-4984-984d-9637e61ccd9e	27e25791-6c86-485b-9dc6-47ce27fde7df	g.chr2:178417043C>A	ENST00000408939.3	-	1	699	c.449G>T	c.(448-450)gGc>gTc	p.G150V		NM_152517.2	NP_689730.2	Q8N4P2	TT30B_HUMAN	tetratricopeptide repeat domain 30B						cell projection organization	cilium	binding			cervix(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	23			OV - Ovarian serous cystadenocarcinoma(117;0.00151)|Epithelial(96;0.00931)|all cancers(119;0.0362)			CTCATTCTCGCCCCCACTTTC	0.587													5	208					0.0293803	0.0293803	1	1	0	A	178417043	C	A	178417043	3	1	472	1	0	0	0	0	1	0	0	0	16761	739	26	5	1552	5	TTC30B	2	178417043	Missense_Mutation	SNP	C	TCGA-TM-A84Q-01A-11D-A36O-08	15386796	178417043	64782330	11	36705											
TTN	7273	broad.mit.edu	37	2	179440628	179440628	+	Missense_Mutation	SNP	C	C	T			TCGA-TM-A84Q-01A-11D-A36O-08	TCGA-TM-A84Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9569f2bb-c8ba-4984-984d-9637e61ccd9e	27e25791-6c86-485b-9dc6-47ce27fde7df	g.chr2:179440628C>T	ENST00000589042.1	-	326	70455	c.70231G>A	c.(70231-70233)Ggt>Agt	p.G23411S	TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G21770S|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G20843S|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G14538S|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G14346S|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G14471S	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	21770	Fibronectin type-III 70.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACAAATTTACCGGTATCATAT	0.448													50	119					0	0	1	0	0	T	179440628	C	T	179440628	3	4	472	1	0	0	0	0	1	0	0	0	16797	652	23	1	37896	1	TTN	2	179440628	Missense_Mutation	SNP	C	TCGA-TM-A84Q-01A-11D-A36O-08	1023585	179440628	63758745	12	36706											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-TM-A84Q-01A-11D-A36O-08	TCGA-TM-A84Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9569f2bb-c8ba-4984-984d-9637e61ccd9e	27e25791-6c86-485b-9dc6-47ce27fde7df	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								34	31					0	0	1	0	0	T	209113112	C	T	209113112	3	4	472	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-TM-A84Q-01A-11D-A36O-08	29672484	209113112	34086261	13	36707											
FLNB	2317	broad.mit.edu	37	3	58139287	58139287	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A84Q-01A-11D-A36O-08	TCGA-TM-A84Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9569f2bb-c8ba-4984-984d-9637e61ccd9e	27e25791-6c86-485b-9dc6-47ce27fde7df	g.chr3:58139287G>A	ENST00000295956.4	+	39	6718	c.6553G>A	c.(6553-6555)Gtg>Atg	p.V2185M	FLNB_ENST00000348383.5_Missense_Mutation_p.V2144M|FLNB_ENST00000490882.1_Missense_Mutation_p.V2216M|FLNB_ENST00000429972.2_Missense_Mutation_p.V2174M|FLNB_ENST00000493452.1_Missense_Mutation_p.V1992M|FLNB_ENST00000419752.2_Missense_Mutation_p.V2005M|FLNB_ENST00000358537.3_Missense_Mutation_p.V2161M|FLNB_ENST00000357272.4_3'UTR	NM_001457.3	NP_001448.2	O75369	FLNB_HUMAN	filamin B, beta	2185	Interaction with FLNA 1.|Interaction with INPPL1.				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		CCAGTTCACCGTGGGGCCACT	0.667													6	35					0	0	1	0	0	A	58139287	G	A	58139287	3	1	472	1	0	0	0	0	1	0	0	0	5967	1145	40	1	6804	1	FLNB	3	58139287	Missense_Mutation	SNP	G	TCGA-TM-A84Q-01A-11D-A36O-08		58139287	139883143	14	36708											
TDO2	6999	broad.mit.edu	37	4	156828909	156828909	+	Missense_Mutation	SNP	T	T	A			TCGA-TM-A84Q-01A-11D-A36O-08	TCGA-TM-A84Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9569f2bb-c8ba-4984-984d-9637e61ccd9e	27e25791-6c86-485b-9dc6-47ce27fde7df	g.chr4:156828909T>A	ENST00000536354.2	+	4	332	c.268T>A	c.(268-270)Ttg>Atg	p.L90M		NM_005651.3	NP_005642.1	P48775	T23O_HUMAN	tryptophan 2,3-dioxygenase	90					tryptophan catabolic process to kynurenine	cytosol	tryptophan 2,3-dioxygenase activity			breast(3)|endometrium(1)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	18	all_hematologic(180;0.24)	Renal(120;0.0854)		KIRC - Kidney renal clear cell carcinoma(143;0.0455)|Kidney(143;0.0568)|COAD - Colon adenocarcinoma(41;0.141)	L-Tryptophan(DB00150)	CCTCTGGGAGTTGGATTCTGT	0.338													8	57					0	0	1	0	0	A	156828909	T	A	156828909	3	1	472	1	0	0	0	0	1	0	0	0	15786	1722	60	5	282	5	TDO2	4	156828909	Missense_Mutation	SNP	T	TCGA-TM-A84Q-01A-11D-A36O-08		156828909	34325367	15	36709											
F2RL1	2150	broad.mit.edu	37	5	76129450	76129450	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A84Q-01A-11D-A36O-08	TCGA-TM-A84Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9569f2bb-c8ba-4984-984d-9637e61ccd9e	27e25791-6c86-485b-9dc6-47ce27fde7df	g.chr5:76129450G>A	ENST00000296677.4	+	2	1224	c.1018G>A	c.(1018-1020)Gac>Aac	p.D340N		NM_005242.4	NP_005233	P55085	PAR2_HUMAN	coagulation factor II (thrombin) receptor-like 1	340					blood coagulation|elevation of cytosolic calcium ion concentration|positive regulation of leukocyte chemotaxis|positive regulation of positive chemotaxis|regulation of blood coagulation	Golgi apparatus|integral to plasma membrane	receptor binding|thrombin receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	13		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;7.7e-51)|Epithelial(54;2.77e-45)|all cancers(79;3.47e-41)		CAGCTGCATCGACCCCTTTGT	0.473													30	332					0	0	1	0	0	A	76129450	G	A	76129450	3	1	472	1	0	0	0	0	1	0	0	0	5372	1058	37	1	1024	1	F2RL1	5	76129450	Missense_Mutation	SNP	G	TCGA-TM-A84Q-01A-11D-A36O-08		76129450	104785810	16	36710											
DIAPH1	1729	broad.mit.edu	37	5	140960428	140960428	+	Missense_Mutation	SNP	T	T	C			TCGA-TM-A84Q-01A-11D-A36O-08	TCGA-TM-A84Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9569f2bb-c8ba-4984-984d-9637e61ccd9e	27e25791-6c86-485b-9dc6-47ce27fde7df	g.chr5:140960428T>C	ENST00000253811.6	-	8	847	c.707A>G	c.(706-708)gAg>gGg	p.E236G	DIAPH1_ENST00000398557.4_Missense_Mutation_p.E236G|DIAPH1_ENST00000389054.3_Missense_Mutation_p.E236G|DIAPH1_ENST00000398562.2_Missense_Mutation_p.E227G|DIAPH1_ENST00000520569.1_Missense_Mutation_p.E182G|DIAPH1_ENST00000518047.1_Missense_Mutation_p.E227G|DIAPH1_ENST00000389057.5_Missense_Mutation_p.E227G|DIAPH1_ENST00000398566.3_Missense_Mutation_p.E227G			O60610	DIAP1_HUMAN	diaphanous-related formin 1	236	GBD/FH3.				regulation of microtubule-based process|sensory perception of sound	cytoplasm|cytoskeleton|ruffle membrane	actin binding|receptor binding|Rho GTPase binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2)	23			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCTTCTGTCTCCAACATGGT	0.453													11	20					0	0	1	0	0	C	140960428	T	C	140960428	3	2	472	1	0	0	0	0	1	0	0	0	4546	1551	54	3	3195	3	DIAPH1	5	140960428	Missense_Mutation	SNP	T	TCGA-TM-A84Q-01A-11D-A36O-08	64830978	140960428	39954832	17	36711											
ITPR3	3710	broad.mit.edu	37	6	33638466	33638466	+	Silent	SNP	C	C	T			TCGA-TM-A84Q-01A-11D-A36O-08	TCGA-TM-A84Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9569f2bb-c8ba-4984-984d-9637e61ccd9e	27e25791-6c86-485b-9dc6-47ce27fde7df	g.chr6:33638466C>T	ENST00000374316.5	+	21	3520	c.2460C>T	c.(2458-2460)aaC>aaT	p.N820N	ITPR3_ENST00000605930.1_Silent_p.N820N			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	820					activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						CCAACCTCAACGCGTCCCGAG	0.587													4	33					0	0	1	0	0	T	33638466	C	T	33638466	2	4	472	1	0	0	0	0	0	0	0	1	7966	535	19	1		1	ITPR3	6	33638466	Silent	SNP	C	TCGA-TM-A84Q-01A-11D-A36O-08		33638466	137476601	18	36712											
C7orf31	136895	broad.mit.edu	37	7	25194757	25194757	+	Silent	SNP	G	G	A			TCGA-TM-A84Q-01A-11D-A36O-08	TCGA-TM-A84Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9569f2bb-c8ba-4984-984d-9637e61ccd9e	27e25791-6c86-485b-9dc6-47ce27fde7df	g.chr7:25194757G>A	ENST00000409280.1	-	6	776	c.468C>T	c.(466-468)cgC>cgT	p.R156R	C7orf31_ENST00000283905.3_Silent_p.R156R			Q8N865	CG031_HUMAN	chromosome 7 open reading frame 31	156										autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1)	14						ACATGGCGCCGCGACAGATGT	0.502													6	43					0	0	1	0	0	A	25194757	G	A	25194757	2	1	472	1	0	0	0	0	0	0	0	1	2403	1074	38	1		1	C7orf31	7	25194757	Silent	SNP	G	TCGA-TM-A84Q-01A-11D-A36O-08		25194757	133943906	19	36713											
ZNF479	90827	broad.mit.edu	37	7	57188689	57188689	+	Missense_Mutation	SNP	C	C	T			TCGA-TM-A84Q-01A-11D-A36O-08	TCGA-TM-A84Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9569f2bb-c8ba-4984-984d-9637e61ccd9e	27e25791-6c86-485b-9dc6-47ce27fde7df	g.chr7:57188689C>T	ENST00000331162.4	-	5	703	c.433G>A	c.(433-435)Gtt>Att	p.V145I		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	145					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			CATTGGTTAACTTCACTATAA	0.313													42	72					0	0	1	0	0	T	57188689	C	T	57188689	3	4	472	1	0	0	0	0	1	0	0	0	17990	565	20	2	1145	2	ZNF479	7	57188689	Missense_Mutation	SNP	C	TCGA-TM-A84Q-01A-11D-A36O-08	31993932	57188689	101949974	20	36714											
GRM3	2913	broad.mit.edu	37	7	86415600	86415600	+	Missense_Mutation	SNP	C	C	G			TCGA-TM-A84Q-01A-11D-A36O-08	TCGA-TM-A84Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9569f2bb-c8ba-4984-984d-9637e61ccd9e	27e25791-6c86-485b-9dc6-47ce27fde7df	g.chr7:86415600C>G	ENST00000361669.2	+	3	1591	c.492C>G	c.(490-492)ttC>ttG	p.F164L	GRM3_ENST00000439827.1_Missense_Mutation_p.F164L|AC005009.2_ENST00000452471.1_RNA|GRM3_ENST00000536043.1_Missense_Mutation_p.F36L|GRM3_ENST00000546348.1_Intron|GRM3_ENST00000394720.2_Missense_Mutation_p.F162L|AC005009.2_ENST00000418031.1_RNA	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	164					synaptic transmission	integral to plasma membrane				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	TGCGGCTCTTCCAGATCCCTC	0.527													41	86					0	0	1	0	0	G	86415600	C	G	86415600	3	3	472	1	0	0	0	0	1	0	0	0	6839	854	30	5	498	5	GRM3	7	86415600	Missense_Mutation	SNP	C	TCGA-TM-A84Q-01A-11D-A36O-08	29226911	86415600	72723063	21	36715											
WAC	51322	broad.mit.edu	37	10	28906646	28906646	+	Missense_Mutation	SNP	A	A	G			TCGA-TM-A84Q-01A-11D-A36O-08	TCGA-TM-A84Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9569f2bb-c8ba-4984-984d-9637e61ccd9e	27e25791-6c86-485b-9dc6-47ce27fde7df	g.chr10:28906646A>G	ENST00000375664.4	+	13	2281	c.1672A>G	c.(1672-1674)Act>Gct	p.T558A	WAC_ENST00000354911.4_Missense_Mutation_p.T603A|WAC_ENST00000347934.4_Missense_Mutation_p.T500A|WAC_ENST00000375646.1_Missense_Mutation_p.T451A			Q9BTA9	WAC_HUMAN	WW domain containing adaptor with coiled-coil						cell cycle checkpoint|histone H2B conserved C-terminal lysine ubiquitination|histone monoubiquitination|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nuclear speck	chromatin binding|RNA polymerase II core binding			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|urinary_tract(1)	32						CGAAATTTGTACTGAATTAAA	0.303													37	39					0	0	1	0	0	G	28906646	A	G	28906646	3	3	472	1	0	0	0	0	1	0	0	0	17307	391	14	3	1857	3	WAC	10	28906646	Missense_Mutation	SNP	A	TCGA-TM-A84Q-01A-11D-A36O-08		28906646	106628101	22	36716											
TNNT3	7140	broad.mit.edu	37	11	1944796	1944796	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A84Q-01A-11D-A36O-08	TCGA-TM-A84Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9569f2bb-c8ba-4984-984d-9637e61ccd9e	27e25791-6c86-485b-9dc6-47ce27fde7df	g.chr11:1944796G>A	ENST00000381558.1	+	4	322	c.43G>A	c.(43-45)Gaa>Aaa	p.E15K	TNNT3_ENST00000360603.3_Missense_Mutation_p.E15K|TNNT3_ENST00000381548.3_Missense_Mutation_p.E15K|TNNT3_ENST00000381579.3_Missense_Mutation_p.E15K|TNNT3_ENST00000446240.1_Intron|TNNT3_ENST00000278317.6_Missense_Mutation_p.E15K|TNNT3_ENST00000397301.1_Missense_Mutation_p.E15K|TNNT3_ENST00000381561.4_Missense_Mutation_p.E15K|TNNT3_ENST00000397304.2_Intron|TNNT3_ENST00000381549.3_Missense_Mutation_p.E15K|TNNT3_ENST00000381589.3_Missense_Mutation_p.E15K			P45378	TNNT3_HUMAN	troponin T type 3 (skeletal, fast)	15					muscle filament sliding|regulation of ATPase activity|regulation of striated muscle contraction|skeletal muscle contraction	cytosol|troponin complex	calcium-dependent protein binding|tropomyosin binding|troponin C binding|troponin I binding			breast(2)|endometrium(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(4)|stomach(1)	19		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00253)|Lung(200;0.0333)|LUSC - Lung squamous cell carcinoma(625;0.0826)		GCAGTACGAAGAAGAAGGTAA	0.612													14	31					0	0	1	0	0	A	1944796	G	A	1944796	3	1	472	1	0	0	0	0	1	0	0	0	16392	943	33	2	53	2	TNNT3	11	1944796	Missense_Mutation	SNP	G	TCGA-TM-A84Q-01A-11D-A36O-08		1944796	133061720	23	36717											
TRIM6-TRIM34	445372	broad.mit.edu	37	11	5655971	5655971	+	Missense_Mutation	SNP	G	G	C			TCGA-TM-A84Q-01A-11D-A36O-08	TCGA-TM-A84Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9569f2bb-c8ba-4984-984d-9637e61ccd9e	27e25791-6c86-485b-9dc6-47ce27fde7df	g.chr11:5655971G>C	ENST00000354852.5	+	10	1865	c.1692G>C	c.(1690-1692)aaG>aaC	p.K564N	TRIM34_ENST00000514226.1_Missense_Mutation_p.K210N|TRIM6-TRIM34_ENST00000457787.2_Missense_Mutation_p.K210N|HBG2_ENST00000380259.2_Intron|TRIM34_ENST00000429814.2_Missense_Mutation_p.K210N	NM_001003819.3	NP_001003819.1	B2RNG4	B2RNG4_HUMAN		564						intracellular	zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(9)|ovary(1)|prostate(2)|stomach(2)|urinary_tract(1)	33		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;1.01e-08)|BRCA - Breast invasive adenocarcinoma(625;0.145)		AAGAAGAAAAGAAGACGCTGG	0.443													3	48					0	0	1	0	0	C	5655971	G	C	5655971	3	2	472	1	0	0	0	0	1	0	0	0	16595	933	33	4	1730	4	TRIM6-TRIM34	11	5655971	Missense_Mutation	SNP	G	TCGA-TM-A84Q-01A-11D-A36O-08	3711175	5655971	129350545	24	36718											
TRIM22	10346	broad.mit.edu	37	11	5719736	5719736	+	Silent	SNP	C	C	G			TCGA-TM-A84Q-01A-11D-A36O-08	TCGA-TM-A84Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9569f2bb-c8ba-4984-984d-9637e61ccd9e	27e25791-6c86-485b-9dc6-47ce27fde7df	g.chr11:5719736C>G	ENST00000379965.3	+	4	988	c.711C>G	c.(709-711)ctC>ctG	p.L237L	TRIM5_ENST00000380027.1_Intron	NM_001199573.1|NM_006074.4	NP_001186502.1|NP_006065.2	Q8IYM9	TRI22_HUMAN	tripartite motif containing 22	237					immune response|interspecies interaction between organisms|protein trimerization|response to virus	Cajal body|Golgi apparatus|nuclear speck	ligase activity|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			kidney(3)|large_intestine(8)|lung(9)|prostate(1)|stomach(2)	23		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;7.54e-09)|BRCA - Breast invasive adenocarcinoma(625;0.14)		TCTCAGATCTCCAGCGGAGGT	0.542													3	15					0	0	1	0	0	G	5719736	C	G	5719736	2	3	472	1	0	0	0	0	0	0	0	1	16557	842	30	5		5	TRIM22	11	5719736	Silent	SNP	C	TCGA-TM-A84Q-01A-11D-A36O-08	63765	5719736	129286780	25	36719											
PPFIBP2	8495	broad.mit.edu	37	11	7586808	7586808	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A84Q-01A-11D-A36O-08	TCGA-TM-A84Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9569f2bb-c8ba-4984-984d-9637e61ccd9e	27e25791-6c86-485b-9dc6-47ce27fde7df	g.chr11:7586808G>A	ENST00000299492.4	+	3	477	c.89G>A	c.(88-90)aGt>aAt	p.S30N		NM_003621.3	NP_003612	Q8ND30	LIPB2_HUMAN	PTPRF interacting protein, binding protein 2 (liprin beta 2)	30					cell communication|DNA integration	intracellular	DNA binding|integrase activity|protein binding			breast(8)|cervix(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				Epithelial(150;2.01e-07)|BRCA - Breast invasive adenocarcinoma(625;0.236)		GCAGATCTTAGTGATGGTACT	0.527													5	132					0	0	1	0	0	A	7586808	G	A	7586808	3	1	472	1	0	0	0	0	1	0	0	0	12359	1029	36	2	95	2	PPFIBP2	11	7586808	Missense_Mutation	SNP	G	TCGA-TM-A84Q-01A-11D-A36O-08	1867072	7586808	127419708	26	36720											
DENND5A	23258	broad.mit.edu	37	11	9163597	9163597	+	Missense_Mutation	SNP	G	G	C			TCGA-TM-A84Q-01A-11D-A36O-08	TCGA-TM-A84Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9569f2bb-c8ba-4984-984d-9637e61ccd9e	27e25791-6c86-485b-9dc6-47ce27fde7df	g.chr11:9163597G>C	ENST00000328194.3	-	22	3890	c.3570C>G	c.(3568-3570)aaC>aaG	p.N1190K	DENND5A_ENST00000530044.1_Missense_Mutation_p.N1190K|DENND5A_ENST00000527700.1_Missense_Mutation_p.N533K	NM_001243254.1|NM_015213.3	NP_001230183.1|NP_056028.2	Q6IQ26	DEN5A_HUMAN	DENN/MADD domain containing 5A	1190	RUN 2.									breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						TTGTATGCCAGTTTTCCTCAG	0.453													9	70					0	0	1	0	0	C	9163597	G	C	9163597	3	2	472	1	0	0	0	0	1	0	0	0	4464	1020	36	4	301	4	DENND5A	11	9163597	Missense_Mutation	SNP	G	TCGA-TM-A84Q-01A-11D-A36O-08	1576789	9163597	125842919	27	36721											
OR5R1	219479	broad.mit.edu	37	11	56185068	56185068	+	Missense_Mutation	SNP	A	A	G			TCGA-TM-A84Q-01A-11D-A36O-08	TCGA-TM-A84Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9569f2bb-c8ba-4984-984d-9637e61ccd9e	27e25791-6c86-485b-9dc6-47ce27fde7df	g.chr11:56185068A>G	ENST00000312253.1	-	1	640	c.641T>C	c.(640-642)gTc>gCc	p.V214A		NM_001004744.1	NP_001004744.1	Q8NH85	OR5R1_HUMAN	olfactory receptor, family 5, subfamily R, member 1	214					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(17)|ovary(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(21;0.00448)					GGAGGTGAGGACAATGGAAGA	0.473													23	31					0	0	1	0	0	G	56185068	A	G	56185068	3	3	472	1	0	0	0	0	1	0	0	0	11227	275	10	3	335	3	OR5R1	11	56185068	Missense_Mutation	SNP	A	TCGA-TM-A84Q-01A-11D-A36O-08	47021471	56185068	78821448	28	36722											
FMNL3	91010	broad.mit.edu	37	12	50055824	50055824	+	Missense_Mutation	SNP	C	C	T			TCGA-TM-A84Q-01A-11D-A36O-08	TCGA-TM-A84Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9569f2bb-c8ba-4984-984d-9637e61ccd9e	27e25791-6c86-485b-9dc6-47ce27fde7df	g.chr12:50055824C>T	ENST00000335154.5	-	5	610	c.377G>A	c.(376-378)cGg>cAg	p.R126Q	FMNL3_ENST00000550488.1_Missense_Mutation_p.R126Q|FMNL3_ENST00000293590.5_Missense_Mutation_p.R126Q|FMNL3_ENST00000352151.5_Missense_Mutation_p.R126Q	NM_175736.4	NP_783863.4	Q8IVF7	FMNL3_HUMAN	formin-like 3	126	GBD/FH3.				actin cytoskeleton organization		actin binding|Rho GTPase binding	p.R126Q(1)		breast(4)|endometrium(7)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|stomach(1)	39						CAGAAATTCCCGCACCCACCT	0.527													10	20					0	0	1	0	0	T	50055824	C	T	50055824	3	4	472	1	0	0	0	0	1	0	0	0	5986	652	23	1	2794	1	FMNL3	12	50055824	Missense_Mutation	SNP	C	TCGA-TM-A84Q-01A-11D-A36O-08		50055824	83796071	29	36723											
OR4K1	79544	broad.mit.edu	37	14	20404020	20404020	+	Silent	SNP	T	T	C			TCGA-TM-A84Q-01A-11D-A36O-08	TCGA-TM-A84Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9569f2bb-c8ba-4984-984d-9637e61ccd9e	27e25791-6c86-485b-9dc6-47ce27fde7df	g.chr14:20404020T>C	ENST00000285600.4	+	1	254	c.195T>C	c.(193-195)aaT>aaC	p.N65N		NM_001004063.2	NP_001004063.2	Q8NGD4	OR4K1_HUMAN	olfactory receptor, family 4, subfamily K, member 1	65					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		TGCTCAGTAATCTTTCTTTCA	0.383													6	299					0	0	1	0	0	C	20404020	T	C	20404020	2	2	472	1	0	0	0	0	0	0	0	1	11115	1432	50	3		3	OR4K1	14	20404020	Silent	SNP	T	TCGA-TM-A84Q-01A-11D-A36O-08		20404020	86945520	30	36724											
BUB1B	701	broad.mit.edu	37	15	40498485	40498485	+	Missense_Mutation	SNP	C	C	T			TCGA-TM-A84Q-01A-11D-A36O-08	TCGA-TM-A84Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9569f2bb-c8ba-4984-984d-9637e61ccd9e	27e25791-6c86-485b-9dc6-47ce27fde7df	g.chr15:40498485C>T	ENST00000287598.6	+	15	2030	c.1835C>T	c.(1834-1836)gCc>gTc	p.A612V	BUB1B_ENST00000412359.3_Missense_Mutation_p.A626V	NM_001211.5	NP_001202	O60566	BUB1B_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase B	612					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell division|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|phosphatidylinositol-mediated signaling|protein localization to kinetochore|spindle organization	anaphase-promoting complex|condensed chromosome outer kinetochore|cytosol|microtubule organizing center|perinuclear region of cytoplasm|spindle midzone	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(1)|stomach(2)|urinary_tract(2)	36		all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556)		TGTGACTTTGCCAGAGCAGCT	0.428			"Mis, N, F, S"			rhabdomyosarcoma			Mosaic Variegated Aneuploidy Syndrome				3	46					0	0	1	0	0	T	40498485	C	T	40498485	3	4	472	1	0	0	0	0	1	0	0	0	1574	739	26	2	1893	2	BUB1B	15	40498485	Missense_Mutation	SNP	C	TCGA-TM-A84Q-01A-11D-A36O-08		40498485	62032907	31	36725											
TP53	7157	broad.mit.edu	37	17	7577536	7577536	+	Missense_Mutation	SNP	T	T	C			TCGA-TM-A84Q-01A-11D-A36O-08	TCGA-TM-A84Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9569f2bb-c8ba-4984-984d-9637e61ccd9e	27e25791-6c86-485b-9dc6-47ce27fde7df	g.chr17:7577536T>C	ENST00000420246.2	-	7	877	c.745A>G	c.(745-747)Agg>Ggg	p.R249G	TP53_ENST00000455263.2_Missense_Mutation_p.R249G|TP53_ENST00000445888.2_Missense_Mutation_p.R249G|TP53_ENST00000359597.4_Missense_Mutation_p.R249G|TP53_ENST00000413465.2_Missense_Mutation_p.R249G|TP53_ENST00000269305.4_Missense_Mutation_p.R249G	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	249	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).		R -> G (in sporadic cancers; somatic mutation).|R -> I (in a sporadic cancer; somatic mutation).|R -> K (in sporadic cancers; somatic mutation).|R -> M (in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> S (in sporadic cancers; somatic mutation; dbSNP:rs28934571).|R -> T (in sporadic cancers; somatic mutation).|R -> W (in sporadic cancers; somatic mutation).|RP -> SA (in a sporadic cancer; somatic mutation).|RP -> SS (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.R249W(37)|p.R249G(30)|p.0?(8)|p.?(5)|p.M246_P250delMNRRP(2)|p.R249R(1)|p.R248_P250delRRP(1)|p.R249_P250delRP(1)|p.N247_R248delNR(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.G245fs*14(1)|p.R249fs*15(1)|p.R249fs*14(1)|p.R249_T256delRPILTIIT(1)|p.R249fs*19(1)|p.R249_I251delRPI(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)		AGGATGGGCCTCCGGTTCATG	0.567		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	7					0	0	1	0	0	C	7577536	T	C	7577536	3	2	472	1	0	0	0	0	1	0	0	0	16442	1550	54	3	545	3	TP53	17	7577536	Missense_Mutation	SNP	T	TCGA-TM-A84Q-01A-11D-A36O-08		7577536	73617674	32	36726											
PRKCSH	5589	broad.mit.edu	37	19	11546952	11546952	+	Missense_Mutation	SNP	T	T	C			TCGA-TM-A84Q-01A-11D-A36O-08	TCGA-TM-A84Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9569f2bb-c8ba-4984-984d-9637e61ccd9e	27e25791-6c86-485b-9dc6-47ce27fde7df	g.chr19:11546952T>C	ENST00000252455.2	+	2	350	c.14T>C	c.(13-15)cTg>cCg	p.L5P	PRKCSH_ENST00000589838.1_Missense_Mutation_p.L5P|PRKCSH_ENST00000591462.1_Missense_Mutation_p.L5P|PRKCSH_ENST00000592741.1_Missense_Mutation_p.L5P|PRKCSH_ENST00000587327.1_Missense_Mutation_p.L5P|PRKCSH_ENST00000412601.1_Missense_Mutation_p.L5P	NM_002743.2	NP_002734.2	P14314	GLU2B_HUMAN	protein kinase C substrate 80K-H	5					innate immune response|intracellular protein kinase cascade|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen	calcium ion binding|protein kinase C binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(3)	19						ctgttgccgctgctgctgctg	0.647											OREG0025257	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	9					0	0	1	0	0	C	11546952	T	C	11546952	3	2	472	1	0	0	0	0	1	0	0	0	12568	1580	55	3	16	3	PRKCSH	19	11546952	Missense_Mutation	SNP	T	TCGA-TM-A84Q-01A-11D-A36O-08		11546952	47582031	33	36727											
SPTBN4	57731	broad.mit.edu	37	19	41007853	41007853	+	Missense_Mutation	SNP	G	G	C			TCGA-TM-A84Q-01A-11D-A36O-08	TCGA-TM-A84Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9569f2bb-c8ba-4984-984d-9637e61ccd9e	27e25791-6c86-485b-9dc6-47ce27fde7df	g.chr19:41007853G>C	ENST00000352632.3	+	8	896	c.810G>C	c.(808-810)gaG>gaC	p.E270D	SPTBN4_ENST00000344104.3_Missense_Mutation_p.E270D|SPTBN4_ENST00000598249.1_Missense_Mutation_p.E270D|SPTBN4_ENST00000338932.3_Missense_Mutation_p.E270D|SPTBN4_ENST00000595535.1_Missense_Mutation_p.E270D			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	270	Actin-binding.|CH 2.				actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CTCCAGATGAGAAGTCCATCA	0.507													45	95					0	0	1	0	0	C	41007853	G	C	41007853	3	2	472	1	0	0	0	0	1	0	0	0	15177	933	33	4	836	4	SPTBN4	19	41007853	Missense_Mutation	SNP	G	TCGA-TM-A84Q-01A-11D-A36O-08	29460901	41007853	18121130	34	36728											
PSG7	5676	broad.mit.edu	37	19	43428981	43428982	+	RNA	INS	-	-	G			TCGA-TM-A84Q-01A-11D-A36O-08	TCGA-TM-A84Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9569f2bb-c8ba-4984-984d-9637e61ccd9e	27e25791-6c86-485b-9dc6-47ce27fde7df	g.chr19:43428981_43428982insG	ENST00000406070.2	-	0	1340					NM_002783.2	NP_002774.2	Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy	extracellular region							Prostate(69;0.00682)				tccagtctacagtggataataa	0.406													3	6	---	---	---	---						G	43428982	-	G	43428981	6	5	472	0	1	1	1	0	0	0	0	0	12709	203	7	0		0	PSG7	19	43428981	RNA	INS	-	TCGA-TM-A84Q-01A-11D-A36O-08	2421128	43428981	15700002	35	36729											
ZNF432	9668	broad.mit.edu	37	19	52538169	52538169	+	Missense_Mutation	SNP	G	G	C			TCGA-TM-A84Q-01A-11D-A36O-08	TCGA-TM-A84Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9569f2bb-c8ba-4984-984d-9637e61ccd9e	27e25791-6c86-485b-9dc6-47ce27fde7df	g.chr19:52538169G>C	ENST00000594154.1	-	5	975	c.763C>G	c.(763-765)Cat>Gat	p.H255D	ZNF432_ENST00000221315.5_Missense_Mutation_p.H255D			O94892	ZN432_HUMAN	zinc finger protein 432	255					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	29		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.0054)|OV - Ovarian serous cystadenocarcinoma(262;0.0182)		TCTCTTTTATGAATTCTTTGA	0.378													53	19					0	0	1	0	0	C	52538169	G	C	52538169	3	2	472	1	0	0	0	0	1	0	0	0	17963	1290	45	5	1199	5	ZNF432	19	52538169	Missense_Mutation	SNP	G	TCGA-TM-A84Q-01A-11D-A36O-08	9109188	52538169	6590814	36	36730											
NLRP5	126206	broad.mit.edu	37	19	56515394	56515394	+	Silent	SNP	G	G	A			TCGA-TM-A84Q-01A-11D-A36O-08	TCGA-TM-A84Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9569f2bb-c8ba-4984-984d-9637e61ccd9e	27e25791-6c86-485b-9dc6-47ce27fde7df	g.chr19:56515394G>A	ENST00000390649.3	+	2	375	c.375G>A	c.(373-375)acG>acA	p.T125T		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	125	DAPIN.					mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		CCTGGGCTACGTCCATTAGCA	0.502													16	4					0	0	1	0	0	A	56515394	G	A	56515394	2	1	472	1	0	0	0	0	0	0	0	1	10527	1132	40	1		1	NLRP5	19	56515394	Silent	SNP	G	TCGA-TM-A84Q-01A-11D-A36O-08	3977225	56515394	2613589	37	36731											
ATRX	546	broad.mit.edu	37	X	76937741	76937744	+	Frame_Shift_Del	DEL	TTAC	TTAC	-			TCGA-TM-A84Q-01A-11D-A36O-08	TCGA-TM-A84Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9569f2bb-c8ba-4984-984d-9637e61ccd9e	27e25791-6c86-485b-9dc6-47ce27fde7df	g.chrX:76937741_76937744delTTAC	ENST00000373344.5	-	9	3218_3221	c.3004_3007delGTAA	c.(3004-3009)gtaattfs	p.VI1002fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.VI964fs	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1002					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)	TCCATTTTAATTACTTTTTTCTTA	0.333			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						71	21	---	---	---	---						-	76937744	TTAC	-	76937741	7	5	472	1	0	1	0	1	0	0	0	0	1206	1493	52	0	4579	0	ATRX	23	76937741	Frame_Shift_Del	DEL	TTAC	TCGA-TM-A84Q-01A-11D-A36O-08		76937741	78332819	38	36732											
ARMCX1	51309	broad.mit.edu	37	X	100808802	100808803	+	Frame_Shift_Ins	INS	-	-	TC			TCGA-TM-A84Q-01A-11D-A36O-08	TCGA-TM-A84Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9569f2bb-c8ba-4984-984d-9637e61ccd9e	27e25791-6c86-485b-9dc6-47ce27fde7df	g.chrX:100808802_100808803insTC	ENST00000372829.3	+	4	1260_1261	c.889_890insTC	c.(889-891)gtcfs	p.V297fs		NM_016608.1	NP_057692.1	Q9P291	ARMX1_HUMAN	armadillo repeat containing, X-linked 1	297						integral to membrane	binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(2)|ovary(3)|pancreas(1)|urinary_tract(1)	19						TGACACCATGGTCTGTCGCTTG	0.426													8	34	---	---	---	---						TC	100808803	-	TC	100808802	7	5	472	1	0	1	1	0	0	0	0	0	958	1261	44	0	891	0	ARMCX1	23	100808802	Frame_Shift_Ins	INS	-	TCGA-TM-A84Q-01A-11D-A36O-08	23871061	100808802	54461758	39	36733											
UBR3	130507	broad.mit.edu	37	2	170863700	170863700	+	Splice_Site	SNP	A	A	G			TCGA-TM-A84R-01A-21D-A36O-08	TCGA-TM-A84R-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be058c4c-ac5b-4de5-8182-93cefb089168	e7293682-ad76-4f1e-97f8-59ef2d8fd64a	g.chr2:170863700A>G	ENST00000272793.5	+	28	4280	c.4230A>G	c.(4228-4230)ccA>ccG	p.P1410P	UBR3_ENST00000418381.1_Splice_Site_p.P1410P|UBR3_ENST00000392631.1_Splice_Site_p.P231P			Q6ZT12	UBR3_HUMAN	ubiquitin protein ligase E3 component n-recognin 3 (putative)	1410					sensory perception of smell|suckling behavior|ubiquitin-dependent protein catabolic process	integral to membrane	ubiquitin-protein ligase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(3)|stomach(1)	33						GAGCTTTCCCAGTAAGCATCA	0.403													3	7					0	0	1	0	0	G	170863700	A	G	170863700	5	3	473	1	0	0	0	0	0	0	1	0	16964	202	7	3	4340	3	UBR3	2	170863700	Splice_Site	SNP	A	TCGA-TM-A84R-01A-21D-A36O-08		170863700	72335673	1	36734											
USP4	7375	broad.mit.edu	37	3	49335318	49335318	+	Missense_Mutation	SNP	C	C	T			TCGA-TM-A84R-01A-21D-A36O-08	TCGA-TM-A84R-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be058c4c-ac5b-4de5-8182-93cefb089168	e7293682-ad76-4f1e-97f8-59ef2d8fd64a	g.chr3:49335318C>T	ENST00000351842.4	-	12	1543	c.1535G>A	c.(1534-1536)cGg>cAg	p.R512Q	USP4_ENST00000265560.4_Missense_Mutation_p.R559Q	NM_199443.2	NP_955475.1	Q13107	UBP4_HUMAN	ubiquitin specific peptidase 4 (proto-oncogene)	559					negative regulation of protein ubiquitination|protein deubiquitination|protein localization at cell surface|regulation of protein stability|ubiquitin-dependent protein catabolic process	lysosome|nucleus	adenosine receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121)		OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05)		AATGTCATCCCGAGGCATGAT	0.418													6	72					0	0	1	0	0	T	49335318	C	T	49335318	3	4	473	1	0	0	0	0	1	0	0	0	17131	652	23	1	1255	1	USP4	3	49335318	Missense_Mutation	SNP	C	TCGA-TM-A84R-01A-21D-A36O-08		49335318	148687112	2	36735											
BRD2	6046	broad.mit.edu	37	6	32944712	32944712	+	Splice_Site	SNP	A	A	G			TCGA-TM-A84R-01A-21D-A36O-08	TCGA-TM-A84R-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be058c4c-ac5b-4de5-8182-93cefb089168	e7293682-ad76-4f1e-97f8-59ef2d8fd64a	g.chr6:32944712A>G	ENST00000395289.2	+	7	2800	c.1199A>G	c.(1198-1200)aAg>aGg	p.K400R	BRD2_ENST00000374825.4_Splice_Site_p.K400R|BRD2_ENST00000443797.2_Splice_Site_p.K280R|BRD2_ENST00000374831.4_Splice_Site_p.K400R|BRD2_ENST00000395287.1_Splice_Site_p.K400R|BRD2_ENST00000449085.2_Splice_Site_p.K353R			P25440	BRD2_HUMAN	bromodomain containing 2	400	Bromo 2.				spermatogenesis	nucleus	protein serine/threonine kinase activity			central_nervous_system(3)|stomach(2)	5						AGCACTGTCAAGGTACCCACT	0.512													7	30					0	0	1	0	0	G	32944712	A	G	32944712	5	3	473	1	0	0	0	0	0	0	1	0	1504	86	3	3	1221	3	BRD2	6	32944712	Splice_Site	SNP	A	TCGA-TM-A84R-01A-21D-A36O-08		32944712	138170355	3	36736											
TNRC18	84629	broad.mit.edu	37	7	5428871	5428871	+	Frame_Shift_Del	DEL	G	G	-			TCGA-TM-A84R-01A-21D-A36O-08	TCGA-TM-A84R-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be058c4c-ac5b-4de5-8182-93cefb089168	e7293682-ad76-4f1e-97f8-59ef2d8fd64a	g.chr7:5428871delG	ENST00000399537.4	-	5	932	c.584delC	c.(583-585)ccgfs	p.P195fs	TNRC18_ENST00000430969.1_Frame_Shift_Del_p.P195fs			O15417	TNC18_HUMAN	trinucleotide repeat containing 18	195							DNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		GCCTTTGGCCGGGGCGCCCGA	0.776													2	4	---	---	---	---						-	5428871	G	-	5428871	7	5	473	1	0	1	0	1	0	0	0	0	16399	1116	39	0	8426	0	TNRC18	7	5428871	Frame_Shift_Del	DEL	G	TCGA-TM-A84R-01A-21D-A36O-08		5428871	153709792	4	36737											
GPNMB	10457	broad.mit.edu	37	7	23293803	23293803	+	Missense_Mutation	SNP	C	C	T	rs145407985		TCGA-TM-A84R-01A-21D-A36O-08	TCGA-TM-A84R-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be058c4c-ac5b-4de5-8182-93cefb089168	e7293682-ad76-4f1e-97f8-59ef2d8fd64a	g.chr7:23293803C>T	ENST00000258733.4	+	3	534	c.239C>T	c.(238-240)gCg>gTg	p.A80V	GPNMB_ENST00000539136.1_Intron|GPNMB_ENST00000453162.2_Missense_Mutation_p.A80V|GPNMB_ENST00000409458.3_Missense_Mutation_p.A80V|GPNMB_ENST00000381990.2_Missense_Mutation_p.A80V			Q14956	GPNMB_HUMAN	glycoprotein (transmembrane) nmb	80					negative regulation of cell proliferation	melanosome		p.A80V(1)		breast(5)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(3)|stomach(2)	41			GBM - Glioblastoma multiforme(13;0.154)			CGTGTGCAGGCGGTCCTGACC	0.458													5	109					0	0	1	0	0	T	23293803	C	T	23293803	3	4	473	1	0	0	0	0	1	0	0	0	6660	768	27	1	249	1	GPNMB	7	23293803	Missense_Mutation	SNP	C	TCGA-TM-A84R-01A-21D-A36O-08	17864932	23293803	135844860	5	36738											
GNA14	9630	broad.mit.edu	37	9	80043895	80043895	+	Missense_Mutation	SNP	C	C	A			TCGA-TM-A84R-01A-21D-A36O-08	TCGA-TM-A84R-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be058c4c-ac5b-4de5-8182-93cefb089168	e7293682-ad76-4f1e-97f8-59ef2d8fd64a	g.chr9:80043895C>A	ENST00000341700.6	-	5	1164	c.651G>T	c.(649-651)gaG>gaT	p.E217D	GNA14_ENST00000464095.1_5'UTR	NM_004297.3	NP_004288.1	O95837	GNA14_HUMAN	guanine nucleotide binding protein (G protein), alpha 14	217					activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			endometrium(3)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	24						AGGTGACACTCTCAAAGCAGT	0.483													10	120					2.17888e-05	2.25401e-05	1	1	0	A	80043895	C	A	80043895	3	1	473	1	0	0	0	0	1	0	0	0	6544	912	32	4	428	4	GNA14	9	80043895	Missense_Mutation	SNP	C	TCGA-TM-A84R-01A-21D-A36O-08		80043895	61169536	6	36739											
HMX3	340784	broad.mit.edu	37	10	124895699	124895699	+	Frame_Shift_Del	DEL	C	C	-			TCGA-TM-A84R-01A-21D-A36O-08	TCGA-TM-A84R-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be058c4c-ac5b-4de5-8182-93cefb089168	e7293682-ad76-4f1e-97f8-59ef2d8fd64a	g.chr10:124895699delC	ENST00000357878.5	+	1	222	c.133delC	c.(133-135)cccfs	p.P46fs		NM_001105574.1	NP_001099044.1	A6NHT5	HMX3_HUMAN	H6 family homeobox 3	46	Pro-rich.				cell differentiation	nucleus	sequence-specific DNA binding transcription factor activity			lung(4)	4		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)		Colorectal(40;0.122)|COAD - Colon adenocarcinoma(40;0.141)		CCACCGGCCGCCCCCTAAGCC	0.766													2	4	---	---	---	---						-	124895699	C	-	124895699	7	5	473	1	0	1	0	1	0	0	0	0	7289	739	26	0	135	0	HMX3	10	124895699	Frame_Shift_Del	DEL	C	TCGA-TM-A84R-01A-21D-A36O-08		124895699	10639048	7	36740											
RTN4RL2	349667	broad.mit.edu	37	11	57243804	57243804	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A84R-01A-21D-A36O-08	TCGA-TM-A84R-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be058c4c-ac5b-4de5-8182-93cefb089168	e7293682-ad76-4f1e-97f8-59ef2d8fd64a	g.chr11:57243804G>A	ENST00000335099.3	+	3	1000	c.683G>A	c.(682-684)cGc>cAc	p.R228H		NM_178570.1	NP_848665.1	Q86UN3	R4RL2_HUMAN	reticulon 4 receptor-like 2	228					axon regeneration	anchored to plasma membrane	receptor activity			NS(1)|endometrium(1)|large_intestine(2)|lung(2)	6						GGCCTCAGCCGCCTCACCATC	0.701													4	40					0	0	1	0	0	A	57243804	G	A	57243804	3	1	473	1	0	0	0	0	1	0	0	0	13784	1087	38	1	693	1	RTN4RL2	11	57243804	Missense_Mutation	SNP	G	TCGA-TM-A84R-01A-21D-A36O-08		57243804	77762712	8	36741											
KRT83	3889	broad.mit.edu	37	12	52710275	52710275	+	Missense_Mutation	SNP	C	C	T			TCGA-TM-A84R-01A-21D-A36O-08	TCGA-TM-A84R-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be058c4c-ac5b-4de5-8182-93cefb089168	e7293682-ad76-4f1e-97f8-59ef2d8fd64a	g.chr12:52710275C>T	ENST00000293670.3	-	6	1080	c.1018G>A	c.(1018-1020)Gag>Aag	p.E340K		NM_002282.3	NP_002273.3	P78385	KRT83_HUMAN	keratin 83	340	Coil 2.|Rod.				epidermis development	keratin filament	structural molecule activity			NS(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(4)|stomach(7)|upper_aerodigestive_tract(1)	32	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		TTCTCCACCTCGGCTGTCAGC	0.597													5	75					0	0	1	0	0	T	52710275	C	T	52710275	3	4	473	1	0	0	0	0	1	0	0	0	8540	893	31	1	479	1	KRT83	12	52710275	Missense_Mutation	SNP	C	TCGA-TM-A84R-01A-21D-A36O-08		52710275	81141620	9	36742											
NCOR2	9612	broad.mit.edu	37	12	124887093	124887094	+	In_Frame_Ins	INS	-	-	TGT			TCGA-TM-A84R-01A-21D-A36O-08	TCGA-TM-A84R-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be058c4c-ac5b-4de5-8182-93cefb089168	e7293682-ad76-4f1e-97f8-59ef2d8fd64a	g.chr12:124887093_124887094insTGT	ENST00000356219.3	-	15	1651_1652	c.1496_1497insACA	c.(1495-1497)cag>caACAg	p.499_499Q>QQ	NCOR2_ENST00000397355.1_In_Frame_Ins_p.499_499Q>QQ|NCOR2_ENST00000404621.1_In_Frame_Ins_p.498_498Q>QQ|NCOR2_ENST00000405201.1_In_Frame_Ins_p.499_499Q>QQ|NCOR2_ENST00000429285.2_In_Frame_Ins_p.498_498Q>QQ|NCOR2_ENST00000404121.2_In_Frame_Ins_p.69_69Q>QQ	NM_006312.5	NP_006303.4	Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	499	Poly-Gln.				cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity	p.Q499Q(9)		breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		gctgctgctgctgttgttgctg	0.619													2	4	---	---	---	---						TGT	124887094	-	TGT	124887093	7	5	473	1	0	1	1	0	0	0	0	0	10283	796	28	0	6207	0	NCOR2	12	124887093	In_Frame_Ins	INS	-	TCGA-TM-A84R-01A-21D-A36O-08	72176818	124887093	8964802	10	36743											
C1QTNF9	338872	broad.mit.edu	37	13	24892993	24892993	+	Silent	SNP	G	G	A			TCGA-TM-A84R-01A-21D-A36O-08	TCGA-TM-A84R-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be058c4c-ac5b-4de5-8182-93cefb089168	e7293682-ad76-4f1e-97f8-59ef2d8fd64a	g.chr13:24892993G>A	ENST00000382071.2	+	3	289	c.204G>A	c.(202-204)ggG>ggA	p.G68G	RP11-307N16.6_ENST00000382141.4_3'UTR|C1QTNF9_ENST00000332018.4_Silent_p.G68G|C1QTNF9-AS1_ENST00000449656.1_RNA			P0C862	C1T9A_HUMAN	C1q and tumor necrosis factor related protein 9	68	Collagen-like 1.					collagen	hormone activity			endometrium(1)|kidney(2)|lung(6)	9		all_cancers(29;3.55e-20)|all_epithelial(30;4.25e-17)|all_lung(29;1.04e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.00565)|Epithelial(112;0.027)|OV - Ovarian serous cystadenocarcinoma(117;0.115)|Lung(94;0.159)		GGAAGGATGGGACGAGTGGAG	0.463													4	43					0	0	1	0	0	A	24892993	G	A	24892993	2	1	473	1	0	0	0	0	0	0	0	1	1983	1161	41	2		2	C1QTNF9	13	24892993	Silent	SNP	G	TCGA-TM-A84R-01A-21D-A36O-08		24892993	90276885	11	36744											
OR4L1	122742	broad.mit.edu	37	14	20528495	20528495	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A84R-01A-21D-A36O-08	TCGA-TM-A84R-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be058c4c-ac5b-4de5-8182-93cefb089168	e7293682-ad76-4f1e-97f8-59ef2d8fd64a	g.chr14:20528495G>A	ENST00000315683.1	+	1	292	c.292G>A	c.(292-294)Gtg>Atg	p.V98M		NM_001004717.1	NP_001004717.1	Q8NH43	OR4L1_HUMAN	olfactory receptor, family 4, subfamily L, member 1	98					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(16)|ovary(2)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		GTGGGGCTGCGTGACCCAGAT	0.468													24	148					0	0	1	0	0	A	20528495	G	A	20528495	3	1	473	1	0	0	0	0	1	0	0	0	11122	1145	40	1	294	1	OR4L1	14	20528495	Missense_Mutation	SNP	G	TCGA-TM-A84R-01A-21D-A36O-08		20528495	86821045	12	36745											
TUBGCP5	114791	broad.mit.edu	37	15	22861861	22861861	+	Silent	SNP	G	G	A			TCGA-TM-A84R-01A-21D-A36O-08	TCGA-TM-A84R-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be058c4c-ac5b-4de5-8182-93cefb089168	e7293682-ad76-4f1e-97f8-59ef2d8fd64a	g.chr15:22861861G>A	ENST00000283645.4	+	14	2011	c.1881G>A	c.(1879-1881)aaG>aaA	p.K627K	TUBGCP5_ENST00000559846.1_3'UTR|TUBGCP5_ENST00000453949.2_Silent_p.K627K	NM_052903.4	NP_443135.3	Q96RT8	GCP5_HUMAN	tubulin, gamma complex associated protein 5	627					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			breast(5)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	46		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949)		ACCTGATGAAGATGCAGTCCA	0.468													6	171					0	0	1	0	0	A	22861861	G	A	22861861	2	1	473	1	0	0	0	0	0	0	0	1	16831	933	33	2		2	TUBGCP5	15	22861861	Silent	SNP	G	TCGA-TM-A84R-01A-21D-A36O-08		22861861	79669531	13	36746											
IDH2	3418	broad.mit.edu	37	15	90631838	90631838	+	Missense_Mutation	SNP	C	C	A	rs121913503		TCGA-TM-A84R-01A-21D-A36O-08	TCGA-TM-A84R-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be058c4c-ac5b-4de5-8182-93cefb089168	e7293682-ad76-4f1e-97f8-59ef2d8fd64a	g.chr15:90631838C>A	ENST00000330062.3	-	4	628	c.515G>T	c.(514-516)aGg>aTg	p.R172M	IDH2_ENST00000540499.2_Missense_Mutation_p.R120M|IDH2_ENST00000539790.1_Missense_Mutation_p.R42M|IDH2_ENST00000559482.1_Intron	NM_002168.2	NP_002159.2	P48735	IDHP_HUMAN	isocitrate dehydrogenase 2 (NADP+), mitochondrial	172					2-oxoglutarate metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding	p.R172K(116)|p.R172M(21)|p.R172N(1)		biliary_tract(11)|bone(19)|central_nervous_system(107)|endometrium(1)|haematopoietic_and_lymphoid_tissue(953)|large_intestine(8)|lung(5)|skin(5)	1109	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.106)			ATGGGCGTGCCTGCCAATGGT	0.632			M		GBM								9	35					2.74318e-10	2.93912e-10	1	1	0	A	90631838	C	A	90631838	3	1	473	1	0	0	0	0	1	0	0	0	7539	681	24	4	875	4	IDH2	15	90631838	Missense_Mutation	SNP	C	TCGA-TM-A84R-01A-21D-A36O-08	67769977	90631838	11899554	14	36747											
IGF1R	3480	broad.mit.edu	37	15	99465453	99465453	+	Missense_Mutation	SNP	G	G	A	rs70958396		TCGA-TM-A84R-01A-21D-A36O-08	TCGA-TM-A84R-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be058c4c-ac5b-4de5-8182-93cefb089168	e7293682-ad76-4f1e-97f8-59ef2d8fd64a	g.chr15:99465453G>A	ENST00000268035.6	+	11	2889	c.2278G>A	c.(2278-2280)Gca>Aca	p.A760T	IGF1R_ENST00000558762.1_Missense_Mutation_p.A760T	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	760					anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)	CACCACGGCCGCAGACACCTA	0.527													3	29					0	0	1	0	0	A	99465453	G	A	99465453	3	1	473	1	0	0	0	0	1	0	0	0	7615	1087	38	1	2320	1	IGF1R	15	99465453	Missense_Mutation	SNP	G	TCGA-TM-A84R-01A-21D-A36O-08	8833615	99465453	3065939	15	36748											
KIF16B	55614	broad.mit.edu	37	20	16360693	16360693	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A84R-01A-21D-A36O-08	TCGA-TM-A84R-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be058c4c-ac5b-4de5-8182-93cefb089168	e7293682-ad76-4f1e-97f8-59ef2d8fd64a	g.chr20:16360693G>A	ENST00000354981.2	-	19	2111	c.1954C>T	c.(1954-1956)Cgc>Tgc	p.R652C	KIF16B_ENST00000378003.2_5'UTR|KIF16B_ENST00000408042.1_Missense_Mutation_p.R652C|KIF16B_ENST00000355755.3_Missense_Mutation_p.R652C	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	652	Glu-rich.				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						TCCTGCTTGCGAATCTGGAGC	0.517													6	130					0	0	1	0	0	A	16360693	G	A	16360693	3	1	473	1	0	0	0	0	1	0	0	0	8320	1058	37	1	2031	1	KIF16B	20	16360693	Missense_Mutation	SNP	G	TCGA-TM-A84R-01A-21D-A36O-08		16360693	46664827	16	36749											
GSTT1	2952	broad.mit.edu	37	22	24379404	24379404	+	Missense_Mutation	SNP	T	T	C			TCGA-TM-A84R-01A-21D-A36O-08	TCGA-TM-A84R-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be058c4c-ac5b-4de5-8182-93cefb089168	e7293682-ad76-4f1e-97f8-59ef2d8fd64a	g.chr22:24379404T>C	ENST00000248935.5	-	3	360	c.308A>G	c.(307-309)cAc>cGc	p.H103R	GSTT1_ENST00000439996.2_5'UTR	NM_000853.2	NP_000844.2	P30711	GSTT1_HUMAN	glutathione S-transferase theta 1	103	GST C-terminal.				glutathione metabolic process	cytosol|soluble fraction	glutathione peroxidase activity|glutathione transferase activity			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|ovary(1)|prostate(1)|skin(1)	6					Glutathione(DB00143)	CAGAGTCGTGTGCTGCCATGC	0.607									Myelodysplasia and Acute Myeloid Leukemia (AML), Familial				4	30					0	0	1	0	0	C	24379404	T	C	24379404	3	2	473	1	0	0	0	0	1	0	0	0	6886	1696	59	3	426	3	GSTT1	22	24379404	Missense_Mutation	SNP	T	TCGA-TM-A84R-01A-21D-A36O-08		24379404	26925162	17	36750											
GLUD2	2747	broad.mit.edu	37	X	120182972	120182972	+	Silent	SNP	T	T	C			TCGA-TM-A84R-01A-21D-A36O-08	TCGA-TM-A84R-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be058c4c-ac5b-4de5-8182-93cefb089168	e7293682-ad76-4f1e-97f8-59ef2d8fd64a	g.chrX:120182972T>C	ENST00000328078.1	+	1	1511	c.1434T>C	c.(1432-1434)ttT>ttC	p.F478F		NM_012084.3	NP_036216.2	P49448	DHE4_HUMAN	glutamate dehydrogenase 2	478					glutamate biosynthetic process|glutamate catabolic process	mitochondrial matrix	ADP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|leucine binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|urinary_tract(1)	38					L-Glutamic Acid(DB00142)|NADH(DB00157)	AAAGAAAATTTGGAAAGCATG	0.428													14	70					0	0	1	0	0	C	120182972	T	C	120182972	2	2	473	1	0	0	0	0	0	0	0	1	6519	1809	63	3		3	GLUD2	23	120182972	Silent	SNP	T	TCGA-TM-A84R-01A-21D-A36O-08		120182972	35087588	18	36751											
ARID1A	8289	broad.mit.edu	37	1	27101006	27101006	+	Nonsense_Mutation	SNP	C	C	T			TCGA-TM-A84S-01A-11D-A36O-08	TCGA-TM-A84S-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04900639-99a7-4c20-944b-77fab59a174a	59753c32-0a08-46aa-94cc-cc88d0455862	g.chr1:27101006C>T	ENST00000324856.7	+	18	4659	c.4288C>T	c.(4288-4290)Cag>Tag	p.Q1430*	ARID1A_ENST00000540690.1_Intron|ARID1A_ENST00000457599.2_Intron|ARID1A_ENST00000374152.2_Nonsense_Mutation_p.Q1047*	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1430					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		TGTATACAACCAGTATGGCAA	0.627			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"								9	39					0	0	1	0	0	T	27101006	C	T	27101006	4	4	474	1	0	0	0	0	0	1	0	0	910	595	21	2	4358	2	ARID1A	1	27101006	Nonsense_Mutation	SNP	C	TCGA-TM-A84S-01A-11D-A36O-08		27101006	222149615	1	36752											
CCDC88A	55704	broad.mit.edu	37	2	55566774	55566774	+	Silent	SNP	T	T	C			TCGA-TM-A84S-01A-11D-A36O-08	TCGA-TM-A84S-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04900639-99a7-4c20-944b-77fab59a174a	59753c32-0a08-46aa-94cc-cc88d0455862	g.chr2:55566774T>C	ENST00000436346.1	-	13	2185	c.1344A>G	c.(1342-1344)aaA>aaG	p.K448K	AC012358.8_ENST00000594078.1_RNA|CCDC88A_ENST00000336838.6_Silent_p.K448K|AC012358.8_ENST00000599475.1_RNA|AC012358.8_ENST00000599352.1_RNA|AC012358.8_ENST00000600219.1_RNA|CCDC88A_ENST00000413716.2_Silent_p.K448K|CCDC88A_ENST00000263630.8_Silent_p.K448K	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A	448					activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade	cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						GGCCCAGGGATTTCTGGGGTG	0.338													4	50					0	0	1	0	0	C	55566774	T	C	55566774	2	2	474	1	0	0	0	0	0	0	0	1	2883	1490	52	3		3	CCDC88A	2	55566774	Silent	SNP	T	TCGA-TM-A84S-01A-11D-A36O-08		55566774	187632599	2	36753											
ITGB6	3694	broad.mit.edu	37	2	161052119	161052119	+	Silent	SNP	C	C	T			TCGA-TM-A84S-01A-11D-A36O-08	TCGA-TM-A84S-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04900639-99a7-4c20-944b-77fab59a174a	59753c32-0a08-46aa-94cc-cc88d0455862	g.chr2:161052119C>T	ENST00000283249.2	-	4	591	c.354G>A	c.(352-354)gcG>gcA	p.A118A	ITGB6_ENST00000485635.1_5'UTR|ITGB6_ENST00000409967.2_Silent_p.A118A|ITGB6_ENST00000409872.1_Silent_p.A118A|ITGB6_ENST00000428609.2_Silent_p.A76A	NM_001282353.1|NM_001282354.1|NM_001282388.1	NP_001269282.1|NP_001269283.1|NP_001269317.1	P18564	ITB6_HUMAN	integrin, beta 6	118					cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|multicellular organismal development	integrin complex	receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						GCAGAGTCTGCGCACCACCTG	0.532													3	48					0	0	1	0	0	T	161052119	C	T	161052119	2	4	474	1	0	0	0	0	0	0	0	1	7943	755	27	1		1	ITGB6	2	161052119	Silent	SNP	C	TCGA-TM-A84S-01A-11D-A36O-08	105485345	161052119	82147254	3	36754											
TLK1	9874	broad.mit.edu	37	2	171863512	171863512	+	Missense_Mutation	SNP	C	C	G			TCGA-TM-A84S-01A-11D-A36O-08	TCGA-TM-A84S-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04900639-99a7-4c20-944b-77fab59a174a	59753c32-0a08-46aa-94cc-cc88d0455862	g.chr2:171863512C>G	ENST00000442919.2	-	15	1949	c.1334G>C	c.(1333-1335)tGg>tCg	p.W445S	TLK1_ENST00000521943.1_Missense_Mutation_p.W445S|TLK1_ENST00000431350.2_Missense_Mutation_p.W493S|TLK1_ENST00000360843.3_Missense_Mutation_p.W514S|TLK1_ENST00000434911.2_Missense_Mutation_p.W397S	NM_012290.4	NP_036422.3	Q9UKI8	TLK1_HUMAN	tousled-like kinase 1	493					cell cycle|chromatin modification|intracellular protein transport|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|liver(3)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						CTCATCTCTCCAGCTTTTATT	0.294													16	55					0	0	1	0	0	G	171863512	C	G	171863512	3	3	474	1	0	0	0	0	1	0	0	0	16003	595	21	5	850	5	TLK1	2	171863512	Missense_Mutation	SNP	C	TCGA-TM-A84S-01A-11D-A36O-08	10811393	171863512	71335861	4	36755											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-TM-A84S-01A-11D-A36O-08	TCGA-TM-A84S-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04900639-99a7-4c20-944b-77fab59a174a	59753c32-0a08-46aa-94cc-cc88d0455862	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								30	51					0	0	1	0	0	T	209113112	C	T	209113112	3	4	474	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-TM-A84S-01A-11D-A36O-08	37249600	209113112	34086261	5	36756											
PIK3CA	5290	broad.mit.edu	37	3	178952072	178952072	+	Missense_Mutation	SNP	A	A	G			TCGA-TM-A84S-01A-11D-A36O-08	TCGA-TM-A84S-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04900639-99a7-4c20-944b-77fab59a174a	59753c32-0a08-46aa-94cc-cc88d0455862	g.chr3:178952072A>G	ENST00000263967.3	+	21	3284	c.3127A>G	c.(3127-3129)Atg>Gtg	p.M1043V		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1043	PI3K/PI4K.		M -> I (in cancer; shows an increase in lipid kinase activity).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.M1043V(22)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			CATGAAACAAATGAATGATGC	0.368		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			6	49					0	0	1	0	0	G	178952072	A	G	178952072	3	3	474	1	0	0	0	0	1	0	0	0	11961	101	4	3	3205	3	PIK3CA	3	178952072	Missense_Mutation	SNP	A	TCGA-TM-A84S-01A-11D-A36O-08		178952072	19070358	6	36757											
SLC45A2	51151	broad.mit.edu	37	5	33951714	33951714	+	Silent	SNP	G	G	A			TCGA-TM-A84S-01A-11D-A36O-08	TCGA-TM-A84S-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04900639-99a7-4c20-944b-77fab59a174a	59753c32-0a08-46aa-94cc-cc88d0455862	g.chr5:33951714G>A	ENST00000382102.3	-	5	1158	c.1101C>T	c.(1099-1101)gtC>gtT	p.V367V	SLC45A2_ENST00000509381.1_3'UTR|SLC45A2_ENST00000342059.3_Silent_p.V308V|SLC45A2_ENST00000345083.5_Silent_p.V259V|SLC45A2_ENST00000296589.4_Silent_p.V367V	NM_001012509.2	NP_001012527	Q9UMX9	S45A2_HUMAN	solute carrier family 45, member 2	367					melanin biosynthetic process|response to stimulus|transmembrane transport|visual perception	integral to membrane|melanosome membrane				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(25)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48						ATCCAACCTCGACTCCTCTTT	0.453													16	103					0	0	1	0	0	A	33951714	G	A	33951714	2	1	474	1	0	0	0	0	0	0	0	1	14696	1045	37	1		1	SLC45A2	5	33951714	Silent	SNP	G	TCGA-TM-A84S-01A-11D-A36O-08		33951714	146963546	7	36758											
AFF4	27125	broad.mit.edu	37	5	132262879	132262879	+	Silent	SNP	A	A	G			TCGA-TM-A84S-01A-11D-A36O-08	TCGA-TM-A84S-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04900639-99a7-4c20-944b-77fab59a174a	59753c32-0a08-46aa-94cc-cc88d0455862	g.chr5:132262879A>G	ENST00000265343.5	-	5	1363	c.984T>C	c.(982-984)ccT>ccC	p.P328P	AFF4_ENST00000378595.3_Silent_p.P328P|AFF4_ENST00000491831.1_5'UTR	NM_014423.3	NP_055238.1	Q9UHB7	AFF4_HUMAN	AF4/FMR2 family, member 4	328	Ser-rich.				transcription from RNA polymerase II promoter	mitochondrion|nucleolus	protein binding|sequence-specific DNA binding transcription factor activity		SEPT8/AFF4(2)	breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(7)|lung(11)|ovary(3)|pancreas(1)|prostate(3)|skin(2)	43		all_cancers(142;0.145)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TTAGAGGGGGAGGCCATGAAT	0.333													3	48					0	0	1	0	0	G	132262879	A	G	132262879	2	3	474	1	0	0	0	0	0	0	0	1	358	291	11	3		3	AFF4	5	132262879	Silent	SNP	A	TCGA-TM-A84S-01A-11D-A36O-08	98311165	132262879	48652381	8	36759											
KCNIP1	30820	broad.mit.edu	37	5	170160874	170160874	+	Missense_Mutation	SNP	T	T	C			TCGA-TM-A84S-01A-11D-A36O-08	TCGA-TM-A84S-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04900639-99a7-4c20-944b-77fab59a174a	59753c32-0a08-46aa-94cc-cc88d0455862	g.chr5:170160874T>C	ENST00000328939.4	+	7	1112	c.575T>C	c.(574-576)tTa>tCa	p.L192S	KCNIP1_ENST00000411494.1_Missense_Mutation_p.L203S|KCNIP1_ENST00000434108.1_Missense_Mutation_p.L217S|KCNIP1_ENST00000377360.4_Missense_Mutation_p.L201S|KCNIP1_ENST00000520740.1_Missense_Mutation_p.L164S|KCNIP1_ENST00000390656.4_Missense_Mutation_p.L192S	NM_001034837.1|NM_014592.2	NP_001030009.1|NP_055407.1	Q9NZI2	KCIP1_HUMAN	Kv channel interacting protein 1	203	EF-hand 4.				detection of calcium ion|signal transduction|synaptic transmission	plasma membrane	potassium channel activity|voltage-gated ion channel activity			autonomic_ganglia(1)|large_intestine(7)|lung(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	18	Renal(175;0.000159)|Lung NSC(126;0.0191)|all_lung(126;0.0297)	Medulloblastoma(196;0.0109)|all_neural(177;0.0177)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ATCGTAACTTTAGATGAATTT	0.428													4	45					0	0	1	0	0	C	170160874	T	C	170160874	3	2	474	1	0	0	0	0	1	0	0	0	8083	1764	61	3	730	3	KCNIP1	5	170160874	Missense_Mutation	SNP	T	TCGA-TM-A84S-01A-11D-A36O-08	37897995	170160874	10754386	9	36760											
MGAT4B	11282	broad.mit.edu	37	5	179228989	179228989	+	Silent	SNP	C	C	T			TCGA-TM-A84S-01A-11D-A36O-08	TCGA-TM-A84S-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04900639-99a7-4c20-944b-77fab59a174a	59753c32-0a08-46aa-94cc-cc88d0455862	g.chr5:179228989C>T	ENST00000337755.5	-	1	1009	c.123G>A	c.(121-123)acG>acA	p.T41T	MGAT4B_ENST00000521305.1_Intron|MGAT4B_ENST00000292591.7_Intron	NM_054013.3	NP_463459.1	Q9UQ53	MGT4B_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme B	0					N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	13	all_cancers(89;0.000201)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0525)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GTAGGCAAGCCGTCACGAGGG	0.627											OREG0017110	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	16	69					0	0	1	0	0	T	179228989	C	T	179228989	2	4	474	1	0	0	0	0	0	0	0	1	9596	639	23	1		1	MGAT4B	5	179228989	Silent	SNP	C	TCGA-TM-A84S-01A-11D-A36O-08	9068115	179228989	1686271	10	36761											
ADAMTS20	80070	broad.mit.edu	37	12	43944836	43944836	+	Missense_Mutation	SNP	C	C	T			TCGA-TM-A84S-01A-11D-A36O-08	TCGA-TM-A84S-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04900639-99a7-4c20-944b-77fab59a174a	59753c32-0a08-46aa-94cc-cc88d0455862	g.chr12:43944836C>T	ENST00000389420.3	-	2	328	c.329G>A	c.(328-330)gGa>gAa	p.G110E	ADAMTS20_ENST00000553158.1_Missense_Mutation_p.G110E	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	110						proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		CTCCGGGGTTCCCAAGTGCAC	0.657													4	21					0	0	1	0	0	T	43944836	C	T	43944836	3	4	474	1	0	0	0	0	1	0	0	0	265	855	30	2	5554	2	ADAMTS20	12	43944836	Missense_Mutation	SNP	C	TCGA-TM-A84S-01A-11D-A36O-08		43944836	89907059	11	36762											
ARHGAP9	64333	broad.mit.edu	37	12	57867389	57867389	+	Missense_Mutation	SNP	C	C	T			TCGA-TM-A84S-01A-11D-A36O-08	TCGA-TM-A84S-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04900639-99a7-4c20-944b-77fab59a174a	59753c32-0a08-46aa-94cc-cc88d0455862	g.chr12:57867389C>T	ENST00000393797.2	-	20	2483	c.2291G>A	c.(2290-2292)tGc>tAc	p.C764Y	ARHGAP9_ENST00000356411.2_Missense_Mutation_p.C693Y|ARHGAP9_ENST00000393791.3_Missense_Mutation_p.C674Y|ARHGAP9_ENST00000430041.2_Missense_Mutation_p.C490Y|ARHGAP9_ENST00000550288.1_3'UTR|ARHGAP9_ENST00000424809.2_Intron			Q9BRR9	RHG09_HUMAN	Rho GTPase activating protein 9	693					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)	30			GBM - Glioblastoma multiforme(3;3.37e-34)			TCCTGACCTGCATAAATGCTC	0.517													11	44					0	0	1	0	0	T	57867389	C	T	57867389	3	4	474	1	0	0	0	0	1	0	0	0	886	710	25	2	182	2	ARHGAP9	12	57867389	Missense_Mutation	SNP	C	TCGA-TM-A84S-01A-11D-A36O-08	13922553	57867389	75984506	12	36763											
PPIP5K1	9677	broad.mit.edu	37	15	43827518	43827518	+	Missense_Mutation	SNP	C	C	T			TCGA-TM-A84S-01A-11D-A36O-08	TCGA-TM-A84S-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04900639-99a7-4c20-944b-77fab59a174a	59753c32-0a08-46aa-94cc-cc88d0455862	g.chr15:43827518C>T	ENST00000420765.1	-	31	3838	c.3656G>A	c.(3655-3657)gGg>gAg	p.G1219E	PPIP5K1_ENST00000381885.1_Missense_Mutation_p.G1215E|PPIP5K1_ENST00000360135.4_Missense_Mutation_p.G1192E|PPIP5K1_ENST00000348806.6_Missense_Mutation_p.G1192E|PPIP5K1_ENST00000396923.3_Missense_Mutation_p.G1219E|PPIP5K1_ENST00000381879.4_Missense_Mutation_p.G1195E|PPIP5K1_ENST00000360301.4_Missense_Mutation_p.G1194E|PPIP5K1_ENST00000334933.4_Missense_Mutation_p.G1194E	NM_001130858.2	NP_001124330.1	Q6PFW1	VIP1_HUMAN	diphosphoinositol pentakisphosphate kinase 1	1219					inositol metabolic process	cytosol	acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity			large_intestine(1)	1						TGCTCCACTCCCAGGGGTCTC	0.527													32	58					0	0	1	0	0	T	43827518	C	T	43827518	3	4	474	1	0	0	0	0	1	0	0	0	12381	623	22	2	649	2	PPIP5K1	15	43827518	Missense_Mutation	SNP	C	TCGA-TM-A84S-01A-11D-A36O-08		43827518	58703874	13	36764											
ADCY9	115	broad.mit.edu	37	16	4016307	4016307	+	Silent	SNP	G	G	A	rs146365616		TCGA-TM-A84S-01A-11D-A36O-08	TCGA-TM-A84S-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04900639-99a7-4c20-944b-77fab59a174a	59753c32-0a08-46aa-94cc-cc88d0455862	g.chr16:4016307G>A	ENST00000294016.3	-	11	4069	c.3531C>T	c.(3529-3531)atC>atT	p.I1177I		NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	1177	Guanylate cyclase 2.				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						TGGTGGTGCCGATGACCCCGG	0.607													12	86					0	0	1	0	0	A	4016307	G	A	4016307	2	1	474	1	0	0	0	0	0	0	0	1	300	1048	37	1		1	ADCY9	16	4016307	Silent	SNP	G	TCGA-TM-A84S-01A-11D-A36O-08		4016307	86338446	14	36765											
AARS	16	broad.mit.edu	37	16	70295033	70295033	+	Missense_Mutation	SNP	G	G	C			TCGA-TM-A84S-01A-11D-A36O-08	TCGA-TM-A84S-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04900639-99a7-4c20-944b-77fab59a174a	59753c32-0a08-46aa-94cc-cc88d0455862	g.chr16:70295033G>C	ENST00000261772.8	-	13	1842	c.1699C>G	c.(1699-1701)Cag>Gag	p.Q567E	AARS_ENST00000564359.1_5'UTR	NM_001605.2	NP_001596.2	P49588	SYAC_HUMAN	alanyl-tRNA synthetase	567					alanyl-tRNA aminoacylation|tRNA processing	cytosol|soluble fraction	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding			breast(3)|cervix(2)|endometrium(5)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0365)		BRCA - Breast invasive adenocarcinoma(221;0.161)	L-Alanine(DB00160)	CCTCGGACCTGAGCATTCTTC	0.398													19	39					0	0	1	0	0	C	70295033	G	C	70295033	3	2	474	1	0	0	0	0	1	0	0	0	19	1299	45	5	1243	5	AARS	16	70295033	Missense_Mutation	SNP	G	TCGA-TM-A84S-01A-11D-A36O-08	66278726	70295033	20059720	15	36766											
ZNF18	7566	broad.mit.edu	37	17	11881794	11881794	+	Missense_Mutation	SNP	G	G	T			TCGA-TM-A84S-01A-11D-A36O-08	TCGA-TM-A84S-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04900639-99a7-4c20-944b-77fab59a174a	59753c32-0a08-46aa-94cc-cc88d0455862	g.chr17:11881794G>T	ENST00000322748.3	-	9	1734	c.1130C>A	c.(1129-1131)cCt>cAt	p.P377H	ZNF18_ENST00000454073.3_Missense_Mutation_p.P376H|ZNF18_ENST00000580306.2_Missense_Mutation_p.P377H	NM_144680.2	NP_653281.2	P17022	ZNF18_HUMAN	zinc finger protein 18	377					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)	14				Colorectal(4;3.33e-05)|COAD - Colon adenocarcinoma(4;0.000494)|READ - Rectum adenocarcinoma(10;0.233)		TCCTGAATGAGGATTAGGCAA	0.532													32	60					1.7881e-09	1.7881e-09	1	1	0	T	11881794	G	T	11881794	3	4	474	1	0	0	0	0	1	0	0	0	17805	1000	35	4	523	4	ZNF18	17	11881794	Missense_Mutation	SNP	G	TCGA-TM-A84S-01A-11D-A36O-08		11881794	69313416	16	36767											
MYO19	80179	broad.mit.edu	37	17	34862971	34862971	+	Missense_Mutation	SNP	C	C	T			TCGA-TM-A84S-01A-11D-A36O-08	TCGA-TM-A84S-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04900639-99a7-4c20-944b-77fab59a174a	59753c32-0a08-46aa-94cc-cc88d0455862	g.chr17:34862971C>T	ENST00000431794.3	-	17	1997	c.1475G>A	c.(1474-1476)cGc>cAc	p.R492H	MYO19_ENST00000268852.9_Intron	NM_001163735.1	NP_001157207.1	Q96H55	MYO19_HUMAN	myosin XIX	492	Myosin head-like.					mitochondrial outer membrane|myosin complex	actin binding|ATP binding|motor activity			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|urinary_tract(1)	20		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		TCGATTGAGGCGGCATTCCTG	0.637													7	43					0	0	1	0	0	T	34862971	C	T	34862971	3	4	474	1	0	0	0	0	1	0	0	0	10115	768	27	1	1477	1	MYO19	17	34862971	Missense_Mutation	SNP	C	TCGA-TM-A84S-01A-11D-A36O-08	22981177	34862971	46332239	17	36768											
ITGB3	3690	broad.mit.edu	37	17	45377877	45377877	+	Missense_Mutation	SNP	A	A	G			TCGA-TM-A84S-01A-11D-A36O-08	TCGA-TM-A84S-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04900639-99a7-4c20-944b-77fab59a174a	59753c32-0a08-46aa-94cc-cc88d0455862	g.chr17:45377877A>G	ENST00000560629.1	+	12	1912	c.1912A>G	c.(1912-1914)Agc>Ggc	p.S638G	ITGB3_ENST00000559488.1_Silent_p.G649G|ITGB3_ENST00000435993.2_Silent_p.G602G			P05106	ITB3_HUMAN	integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	0					activation of protein kinase activity|angiogenesis involved in wound healing|axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|platelet activation|platelet degranulation|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|regulation of bone resorption|smooth muscle cell migration|tube development	alphav-beta3 integrin-vitronectin complex|integrin complex|platelet alpha granule membrane	cell adhesion molecule binding|identical protein binding|platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	39					Abciximab(DB00054)|Tirofiban(DB00775)	TTGACCGGGGAGCCCTACATG	0.483													3	39					0	0	1	0	0	G	45377877	A	G	45377877	3	3	474	1	0	0	0	0	1	0	0	0	7939	291	11	3	1993	3	ITGB3	17	45377877	Missense_Mutation	SNP	A	TCGA-TM-A84S-01A-11D-A36O-08	10514906	45377877	35817333	18	36769											
FKBP8	23770	broad.mit.edu	37	19	18652528	18652528	+	Missense_Mutation	SNP	C	C	T			TCGA-TM-A84S-01A-11D-A36O-08	TCGA-TM-A84S-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04900639-99a7-4c20-944b-77fab59a174a	59753c32-0a08-46aa-94cc-cc88d0455862	g.chr19:18652528C>T	ENST00000608443.1	-	2	452	c.253G>A	c.(253-255)Gcc>Acc	p.A85T	FKBP8_ENST00000453489.2_Missense_Mutation_p.A114T|FKBP8_ENST00000222308.4_Missense_Mutation_p.A85T|FKBP8_ENST00000596558.2_Missense_Mutation_p.A85T|FKBP8_ENST00000610101.1_Missense_Mutation_p.A85T|FKBP8_ENST00000597960.3_Missense_Mutation_p.A85T			Q14318	FKBP8_HUMAN	FK506 binding protein 8, 38kDa		Glu-rich.				apoptosis|interspecies interaction between organisms|intracellular signal transduction|protein folding	integral to endoplasmic reticulum membrane|mitochondrial membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity|protein binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)	15						GGGGCTGGGGCGGGCTCGGGC	0.692													15	25					0	0	1	0	0	T	18652528	C	T	18652528	3	4	474	1	0	0	0	0	1	0	0	0	5947	768	27	1	1020	1	FKBP8	19	18652528	Missense_Mutation	SNP	C	TCGA-TM-A84S-01A-11D-A36O-08		18652528	40476455	19	36770											
ZNF577	84765	broad.mit.edu	37	19	52375975	52375975	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A84S-01A-11D-A36O-08	TCGA-TM-A84S-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04900639-99a7-4c20-944b-77fab59a174a	59753c32-0a08-46aa-94cc-cc88d0455862	g.chr19:52375975G>A	ENST00000420592.1	-	6	2424	c.1091C>T	c.(1090-1092)cCg>cTg	p.P364L	ZNF577_ENST00000485702.1_Intron|ZNF577_ENST00000412216.1_Intron|ZNF577_ENST00000451628.2_Missense_Mutation_p.P364L|ZNF577_ENST00000301399.5_Missense_Mutation_p.P423L			Q9BSK1	ZN577_HUMAN	zinc finger protein 577	423					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.P416Q(1)		breast(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		TAACAATGGCGGGGTTCCTGA	0.428													5	53					0	0	1	0	0	A	52375975	G	A	52375975	3	1	474	1	0	0	0	0	1	0	0	0	18066	1116	39	1	193	1	ZNF577	19	52375975	Missense_Mutation	SNP	G	TCGA-TM-A84S-01A-11D-A36O-08	33723447	52375975	6753008	20	36771											
GRAP2	9402	broad.mit.edu	37	22	40343126	40343126	+	Missense_Mutation	SNP	A	A	G			TCGA-TM-A84S-01A-11D-A36O-08	TCGA-TM-A84S-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04900639-99a7-4c20-944b-77fab59a174a	59753c32-0a08-46aa-94cc-cc88d0455862	g.chr22:40343126A>G	ENST00000344138.4	+	2	279	c.16A>G	c.(16-18)Aag>Gag	p.K6E	GRAP2_ENST00000407075.3_Missense_Mutation_p.K6E|GRAP2_ENST00000399090.2_Intron|GRAP2_ENST00000544756.1_5'UTR|GRAP2_ENST00000540310.1_Intron|GRAP2_ENST00000543252.1_Missense_Mutation_p.K6E|GRAP2_ENST00000478445.1_Intron	NM_004810.2	NP_004801.1	O75791	GRAP2_HUMAN	GRB2-related adaptor protein 2	6	SH3 1.				cell-cell signaling|Ras protein signal transduction|T cell costimulation|T cell receptor signaling pathway	cytosol	SH3/SH2 adaptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						AGCTGTTGCCAAGTTTGATTT	0.527													5	73					0	0	1	0	0	G	40343126	A	G	40343126	3	3	474	1	0	0	0	0	1	0	0	0	6795	131	5	3	18	3	GRAP2	22	40343126	Missense_Mutation	SNP	A	TCGA-TM-A84S-01A-11D-A36O-08		40343126	10961440	21	36772											
SDCCAG8	10806	broad.mit.edu	37	1	243480092	243480092	+	Missense_Mutation	SNP	T	T	G			TCGA-TM-A84T-01A-11D-A36O-08	TCGA-TM-A84T-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4017d95-80c7-4796-9a47-3d519313d062	ab62f550-4bee-40f4-8e36-2e683282cebf	g.chr1:243480092T>G	ENST00000366541.3	+	9	1083	c.965T>G	c.(964-966)gTa>gGa	p.V322G	SDCCAG8_ENST00000343783.6_Missense_Mutation_p.V177G|SDCCAG8_ENST00000355875.4_Missense_Mutation_p.V279G|SDCCAG8_ENST00000391846.1_Missense_Mutation_p.V322G	NM_006642.3	NP_006633.1	Q86SQ7	SDCG8_HUMAN	serologically defined colon cancer antigen 8	322	Sufficient for homodimerization (By similarity).				establishment of cell polarity|G2/M transition of mitotic cell cycle|tube formation	cell-cell junction|centriole|cytosol	protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_cancers(71;0.000545)|all_epithelial(71;0.000509)|all_lung(81;0.0821)|Ovarian(71;0.0919)|all_neural(11;0.101)|Breast(184;0.218)	all_cancers(173;0.00395)	all cancers(7;1.58e-07)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00392)	COAD - Colon adenocarcinoma(196;0.145)		CTAGTTTCCGTAAGGAGCAGC	0.403													16	25					0	0	1	0	0	G	243480092	T	G	243480092	3	3	475	1	0	0	0	0	1	0	0	0	14013	1638	57	5	999	5	SDCCAG8	1	243480092	Missense_Mutation	SNP	T	TCGA-TM-A84T-01A-11D-A36O-08		243480092	5770529	1	36773											
OR2C3	81472	broad.mit.edu	37	1	247695157	247695157	+	Silent	SNP	G	G	A			TCGA-TM-A84T-01A-11D-A36O-08	TCGA-TM-A84T-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4017d95-80c7-4796-9a47-3d519313d062	ab62f550-4bee-40f4-8e36-2e683282cebf	g.chr1:247695157G>A	ENST00000366487.3	-	2	1018	c.657C>T	c.(655-657)taC>taT	p.Y219Y	GCSAML_ENST00000531662.1_Intron|GCSAML_ENST00000463359.1_Intron|GCSAML_ENST00000366489.1_Intron|GCSAML_ENST00000366490.3_Intron|GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000366491.2_Intron|GCSAML_ENST00000527084.1_Intron	NM_198074.4	NP_932340	Q8N628	OR2C3_HUMAN	olfactory receptor, family 2, subfamily C, member 3	219					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2)	43	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;0.0242)	OV - Ovarian serous cystadenocarcinoma(106;0.0241)			CAATGTGGCCGTAAGAGACCA	0.542													15	14					0	0	1	0	0	A	247695157	G	A	247695157	2	1	475	1	0	0	0	0	0	0	0	1	11041	1140	40	1		1	OR2C3	1	247695157	Silent	SNP	G	TCGA-TM-A84T-01A-11D-A36O-08	4215065	247695157	1555464	2	36774											
SLC8A1	6546	broad.mit.edu	37	2	40656574	40656574	+	Missense_Mutation	SNP	G	G	C			TCGA-TM-A84T-01A-11D-A36O-08	TCGA-TM-A84T-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4017d95-80c7-4796-9a47-3d519313d062	ab62f550-4bee-40f4-8e36-2e683282cebf	g.chr2:40656574G>C	ENST00000406785.2	-	2	1036	c.847C>G	c.(847-849)Cca>Gca	p.P283A	SLC8A1_ENST00000406391.2_Missense_Mutation_p.P283A|SLC8A1_ENST00000405269.1_Missense_Mutation_p.P283A|SLC8A1_ENST00000542024.1_Missense_Mutation_p.P283A|SLC8A1_ENST00000408028.2_Missense_Mutation_p.P283A|SLC8A1_ENST00000332839.4_Missense_Mutation_p.P283A|SLC8A1_ENST00000542756.1_Missense_Mutation_p.P283A|SLC8A1_ENST00000405901.3_Missense_Mutation_p.P283A|SLC8A1_ENST00000403092.1_Missense_Mutation_p.P283A|SLC8A1_ENST00000402441.1_Missense_Mutation_p.P283A			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1						cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	TTAGAAGATGGCCTGTCTCCT	0.443													66	86					0	0	1	0	0	C	40656574	G	C	40656574	3	2	475	1	0	0	0	0	1	0	0	0	14761	1203	42	5	2222	5	SLC8A1	2	40656574	Missense_Mutation	SNP	G	TCGA-TM-A84T-01A-11D-A36O-08		40656574	202542799	3	36775											
SGOL2	151246	broad.mit.edu	37	2	201435848	201435848	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A84T-01A-11D-A36O-08	TCGA-TM-A84T-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4017d95-80c7-4796-9a47-3d519313d062	ab62f550-4bee-40f4-8e36-2e683282cebf	g.chr2:201435848G>A	ENST00000357799.4	+	7	877	c.779G>A	c.(778-780)cGc>cAc	p.R260H		NM_001160033.1|NM_001160046.1|NM_152524.5	NP_001153505.1|NP_001153518.1|NP_689737.4	Q562F6	SGOL2_HUMAN	shugoshin-like 2 (S. pombe)	260					cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol|mitotic cohesin complex	protein binding			NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						TCTATTGGCCGCAGATGGGAG	0.428													3	48					0	0	1	0	0	A	201435848	G	A	201435848	3	1	475	1	0	0	0	0	1	0	0	0	14271	1087	38	1	801	1	SGOL2	2	201435848	Missense_Mutation	SNP	G	TCGA-TM-A84T-01A-11D-A36O-08	160779274	201435848	41763525	4	36776											
SGOL2	151246	broad.mit.edu	37	2	201437991	201437991	+	Silent	SNP	T	T	C			TCGA-TM-A84T-01A-11D-A36O-08	TCGA-TM-A84T-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4017d95-80c7-4796-9a47-3d519313d062	ab62f550-4bee-40f4-8e36-2e683282cebf	g.chr2:201437991T>C	ENST00000357799.4	+	7	3020	c.2922T>C	c.(2920-2922)gaT>gaC	p.D974D		NM_001160033.1|NM_001160046.1|NM_152524.5	NP_001153505.1|NP_001153518.1|NP_689737.4	Q562F6	SGOL2_HUMAN	shugoshin-like 2 (S. pombe)	974					cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol|mitotic cohesin complex	protein binding			NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						AAAGTTGTGATCAAATTTTAG	0.284													4	53					0	0	1	0	0	C	201437991	T	C	201437991	2	2	475	1	0	0	0	0	0	0	0	1	14271	1432	50	3		3	SGOL2	2	201437991	Silent	SNP	T	TCGA-TM-A84T-01A-11D-A36O-08	2143	201437991	41761382	5	36777											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-TM-A84T-01A-11D-A36O-08	TCGA-TM-A84T-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4017d95-80c7-4796-9a47-3d519313d062	ab62f550-4bee-40f4-8e36-2e683282cebf	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	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								23	43					0	0	1	0	0	T	209113112	C	T	209113112	3	4	475	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-TM-A84T-01A-11D-A36O-08	7675121	209113112	34086261	6	36778											
SKIL	6498	broad.mit.edu	37	3	170078468	170078468	+	Missense_Mutation	SNP	T	T	C			TCGA-TM-A84T-01A-11D-A36O-08	TCGA-TM-A84T-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4017d95-80c7-4796-9a47-3d519313d062	ab62f550-4bee-40f4-8e36-2e683282cebf	g.chr3:170078468T>C	ENST00000458537.3	+	1	1058	c.349T>C	c.(349-351)Tcg>Ccg	p.S117P	SKIL_ENST00000413427.2_Missense_Mutation_p.S117P|SKIL_ENST00000259119.4_Missense_Mutation_p.S117P|SKIL_ENST00000426052.2_Missense_Mutation_p.S97P	NM_001145097.2|NM_001248008.1|NM_005414.4	NP_001138569.1|NP_001234937.1|NP_005405.2	P12757	SKIL_HUMAN	SKI-like oncogene	117					cell cycle arrest|negative regulation of cell differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of axonogenesis|protein heterotrimerization|protein homotrimerization|regulation of apoptosis|response to antibiotic|response to growth factor stimulus|skeletal muscle tissue development	cytoplasm|PML body	chromatin binding|nucleotide binding|protein complex binding|protein domain specific binding|SMAD binding|transcription corepressor activity|transcription repressor activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	25	all_cancers(22;7.13e-23)|all_epithelial(15;9.95e-28)|all_lung(20;1.23e-16)|Lung NSC(18;5.15e-16)|Ovarian(172;0.000337)|Breast(254;0.137)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)			AGAAAGCATGTCGCCTACTGT	0.493													42	86					0	0	1	0	0	C	170078468	T	C	170078468	3	2	475	1	0	0	0	0	1	0	0	0	14413	1667	58	3	351	3	SKIL	3	170078468	Missense_Mutation	SNP	T	TCGA-TM-A84T-01A-11D-A36O-08		170078468	27943962	7	36779											
FAT1	2195	broad.mit.edu	37	4	187524178	187524178	+	Missense_Mutation	SNP	G	G	C			TCGA-TM-A84T-01A-11D-A36O-08	TCGA-TM-A84T-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4017d95-80c7-4796-9a47-3d519313d062	ab62f550-4bee-40f4-8e36-2e683282cebf	g.chr4:187524178G>C	ENST00000441802.2	-	20	11570	c.11361C>G	c.(11359-11361)tgC>tgG	p.C3787W		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	3787					actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						GGACAGGTGGGCACCTTCCCT	0.488										HNSCC(5;0.00058)			11	29					0	0	1	0	0	C	187524178	G	C	187524178	3	2	475	1	0	0	0	0	1	0	0	0	5722	1195	42	5	2437	5	FAT1	4	187524178	Missense_Mutation	SNP	G	TCGA-TM-A84T-01A-11D-A36O-08		187524178	3630098	8	36780											
MAP1B	4131	broad.mit.edu	37	5	71493288	71493288	+	Missense_Mutation	SNP	A	A	G			TCGA-TM-A84T-01A-11D-A36O-08	TCGA-TM-A84T-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4017d95-80c7-4796-9a47-3d519313d062	ab62f550-4bee-40f4-8e36-2e683282cebf	g.chr5:71493288A>G	ENST00000296755.7	+	5	4404	c.4106A>G	c.(4105-4107)aAa>aGa	p.K1369R		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1369						microtubule|microtubule associated complex	structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		AGTGATGCCAAAGATGAGAAT	0.463													25	31					0	0	1	0	0	G	71493288	A	G	71493288	3	3	475	1	0	0	0	0	1	0	0	0	9278	14	1	3	4124	3	MAP1B	5	71493288	Missense_Mutation	SNP	A	TCGA-TM-A84T-01A-11D-A36O-08		71493288	109421972	9	36781											
ANLN	54443	broad.mit.edu	37	7	36462337	36462337	+	Missense_Mutation	SNP	C	C	T			TCGA-TM-A84T-01A-11D-A36O-08	TCGA-TM-A84T-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4017d95-80c7-4796-9a47-3d519313d062	ab62f550-4bee-40f4-8e36-2e683282cebf	g.chr7:36462337C>T	ENST00000265748.2	+	14	2616	c.2395C>T	c.(2395-2397)Cca>Tca	p.P799S	ANLN_ENST00000396068.2_Missense_Mutation_p.P762S	NM_018685.2	NP_061155.2	Q9NQW6	ANLN_HUMAN	anillin, actin binding protein	799	Localization to the cleavage furrow.				cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly	actomyosin contractile ring|nucleus	actin binding			breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2)	45						TGAATTTATGCCATCCAAAGG	0.403													5	114					0	0	1	0	0	T	36462337	C	T	36462337	3	4	475	1	0	0	0	0	1	0	0	0	688	739	26	2	2449	2	ANLN	7	36462337	Missense_Mutation	SNP	C	TCGA-TM-A84T-01A-11D-A36O-08		36462337	122676326	10	36782											
GALNT11	63917	broad.mit.edu	37	7	151791479	151791479	+	Missense_Mutation	SNP	A	A	G			TCGA-TM-A84T-01A-11D-A36O-08	TCGA-TM-A84T-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4017d95-80c7-4796-9a47-3d519313d062	ab62f550-4bee-40f4-8e36-2e683282cebf	g.chr7:151791479A>G	ENST00000434507.1	+	4	604	c.167A>G	c.(166-168)tAt>tGt	p.Y56C	GALNT11_ENST00000422997.2_Missense_Mutation_p.Y56C|GALNT11_ENST00000430044.2_Missense_Mutation_p.Y56C|GALNT11_ENST00000320311.2_Missense_Mutation_p.Y56C|GALNT11_ENST00000482812.1_3'UTR|GALNT11_ENST00000452146.2_Intron|GALNT11_ENST00000415421.1_Missense_Mutation_p.Y56C			Q8NCW6	GLT11_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 11 (GalNAc-T11)	56						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|prostate(5)|skin(2)	27	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.214)	OV - Ovarian serous cystadenocarcinoma(82;0.00168)	UCEC - Uterine corpus endometrioid carcinoma (81;0.177)|BRCA - Breast invasive adenocarcinoma(188;0.0932)		AAAAAATTCTATCCCCGTTTC	0.463													29	62					0	0	1	0	0	G	151791479	A	G	151791479	3	3	475	1	0	0	0	0	1	0	0	0	6249	449	16	3	169	3	GALNT11	7	151791479	Missense_Mutation	SNP	A	TCGA-TM-A84T-01A-11D-A36O-08	115329142	151791479	7347184	11	36783											
NUP188	23511	broad.mit.edu	37	9	131747270	131747270	+	Missense_Mutation	SNP	C	C	T			TCGA-TM-A84T-01A-11D-A36O-08	TCGA-TM-A84T-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4017d95-80c7-4796-9a47-3d519313d062	ab62f550-4bee-40f4-8e36-2e683282cebf	g.chr9:131747270C>T	ENST00000372577.2	+	20	2074	c.2053C>T	c.(2053-2055)Cgc>Tgc	p.R685C		NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	685					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						TGCCTTTCTGCGCTTGATCAC	0.468											OREG0003924	type=REGULATORY REGION|Gene=NUP188|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	16	45					0	0	1	0	0	T	131747270	C	T	131747270	3	4	475	1	0	0	0	0	1	0	0	0	10806	768	27	1	2131	1	NUP188	9	131747270	Missense_Mutation	SNP	C	TCGA-TM-A84T-01A-11D-A36O-08		131747270	9466161	12	36784											
KIAA1217	56243	broad.mit.edu	37	10	24813550	24813550	+	Missense_Mutation	SNP	G	G	A	rs151027148		TCGA-TM-A84T-01A-11D-A36O-08	TCGA-TM-A84T-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4017d95-80c7-4796-9a47-3d519313d062	ab62f550-4bee-40f4-8e36-2e683282cebf	g.chr10:24813550G>A	ENST00000376451.2	+	8	2064	c.1804G>A	c.(1804-1806)Gtc>Atc	p.V602I	KIAA1217_ENST00000376454.3_Missense_Mutation_p.V919I|KIAA1217_ENST00000396445.1_Missense_Mutation_p.V602I|KIAA1217_ENST00000396446.1_Missense_Mutation_p.V602I|KIAA1217_ENST00000307544.6_Missense_Mutation_p.V602I|KIAA1217_ENST00000430453.2_Intron|KIAA1217_ENST00000376462.1_Missense_Mutation_p.V839I|KIAA1217_ENST00000458595.1_Missense_Mutation_p.V884I|KIAA1217_ENST00000376452.3_Missense_Mutation_p.V884I			Q5T5P2	SKT_HUMAN	KIAA1217	919					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						CTCCCCAGCCGTCCCCCAGGA	0.622													11	11					0	0	1	0	0	A	24813550	G	A	24813550	3	1	475	1	0	0	0	0	1	0	0	0	8258	1145	40	1	2805	1	KIAA1217	10	24813550	Missense_Mutation	SNP	G	TCGA-TM-A84T-01A-11D-A36O-08		24813550	110721197	13	36785											
TGM5	9333	broad.mit.edu	37	15	43545071	43545071	+	Missense_Mutation	SNP	C	C	T	rs113766373		TCGA-TM-A84T-01A-11D-A36O-08	TCGA-TM-A84T-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4017d95-80c7-4796-9a47-3d519313d062	ab62f550-4bee-40f4-8e36-2e683282cebf	g.chr15:43545071C>T	ENST00000220420.5	-	6	755	c.748G>A	c.(748-750)Gcc>Acc	p.A250T	TGM5_ENST00000349114.4_Missense_Mutation_p.A168T	NM_201631.3	NP_963925.2	O43548	TGM5_HUMAN	transglutaminase 5	250					epidermis development|peptide cross-linking	cytoplasm	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1)	44		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;4e-07)	L-Glutamine(DB00130)	GCAGGGTTGGCGCCGTCTGTG	0.547													27	24					0	0	1	0	0	T	43545071	C	T	43545071	3	4	475	1	0	0	0	0	1	0	0	0	15893	768	27	1	1446	1	TGM5	15	43545071	Missense_Mutation	SNP	C	TCGA-TM-A84T-01A-11D-A36O-08		43545071	58986321	14	36786											
NPRL3	8131	broad.mit.edu	37	16	138697	138697	+	Splice_Site	SNP	C	C	G			TCGA-TM-A84T-01A-11D-A36O-08	TCGA-TM-A84T-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4017d95-80c7-4796-9a47-3d519313d062	ab62f550-4bee-40f4-8e36-2e683282cebf	g.chr16:138697C>G	ENST00000399953.3	-	13	1943	c.1541G>C	c.(1540-1542)aGg>aCg	p.R514T	NPRL3_ENST00000405960.3_5'UTR|NPRL3_ENST00000399951.3_Splice_Site_p.R335T	NM_001077350.2|NM_001243247.1|NM_001243248.1|NM_001243249.1	NP_001070818.1|NP_001230176.1|NP_001230177.1|NP_001230178.1	Q12980	NPRL3_HUMAN	nitrogen permease regulator-like 3 (S. cerevisiae)	515							protein binding			endometrium(1)|large_intestine(3)|ovary(2)	6						CTACACCCACCTGGCAAACAT	0.597													6	8					0	0	1	0	0	G	138697	C	G	138697	5	3	475	1	0	0	0	0	0	0	1	0	10646	695	24	4	173	4	NPRL3	16	138697	Splice_Site	SNP	C	TCGA-TM-A84T-01A-11D-A36O-08		138697	90216056	15	36787											
SRRM2	23524	broad.mit.edu	37	16	2820625	2820625	+	Frame_Shift_Del	DEL	C	C	-			TCGA-TM-A84T-01A-11D-A36O-08	TCGA-TM-A84T-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4017d95-80c7-4796-9a47-3d519313d062	ab62f550-4bee-40f4-8e36-2e683282cebf	g.chr16:2820625delC	ENST00000301740.8	+	14	8705	c.8156delC	c.(8155-8157)tccfs	p.S2719fs		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	2719	Arg-rich.|Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						GAGCGGGGTTCCCGGAGAGGC	0.647													2	4	---	---	---	---						-	2820625	C	-	2820625	7	5	475	1	0	1	0	1	0	0	0	0	15225	855	30	0	8206	0	SRRM2	16	2820625	Frame_Shift_Del	DEL	C	TCGA-TM-A84T-01A-11D-A36O-08	2681928	2820625	87534128	16	36788											
THUMPD1	55623	broad.mit.edu	37	16	20748258	20748258	+	Missense_Mutation	SNP	C	C	G			TCGA-TM-A84T-01A-11D-A36O-08	TCGA-TM-A84T-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4017d95-80c7-4796-9a47-3d519313d062	ab62f550-4bee-40f4-8e36-2e683282cebf	g.chr16:20748258C>G	ENST00000381337.2	-	4	1350	c.1006G>C	c.(1006-1008)Gaa>Caa	p.E336Q	THUMPD1_ENST00000431224.2_Missense_Mutation_p.E422Q|THUMPD1_ENST00000396083.2_Missense_Mutation_p.E336Q	NM_017736.3	NP_060206.2	Q9NXG2	THUM1_HUMAN	THUMP domain containing 1	336										NS(2)|large_intestine(2)|lung(6)|pancreas(1)|urinary_tract(1)	12						CTTGCAAGTTCAGGTTTGGCT	0.468													27	47					0	0	1	0	0	G	20748258	C	G	20748258	3	3	475	1	0	0	0	0	1	0	0	0	15942	835	29	5	59	5	THUMPD1	16	20748258	Missense_Mutation	SNP	C	TCGA-TM-A84T-01A-11D-A36O-08	17927633	20748258	69606495	17	36789											
TP53	7157	broad.mit.edu	37	17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	rs121913343		TCGA-TM-A84T-01A-11D-A36O-08	TCGA-TM-A84T-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4017d95-80c7-4796-9a47-3d519313d062	ab62f550-4bee-40f4-8e36-2e683282cebf	g.chr17:7577121G>A	ENST00000420246.2	-	8	949	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000269305.4_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000455263.2_Missense_Mutation_p.R273C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	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).		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.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			13	1					0	0	1	0	0	A	7577121	G	A	7577121	3	1	475	1	0	0	0	0	1	0	0	0	16442	1087	38	1	469	1	TP53	17	7577121	Missense_Mutation	SNP	G	TCGA-TM-A84T-01A-11D-A36O-08		7577121	73618089	18	36790											
KRT27	342574	broad.mit.edu	37	17	38933340	38933340	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A84T-01A-11D-A36O-08	TCGA-TM-A84T-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4017d95-80c7-4796-9a47-3d519313d062	ab62f550-4bee-40f4-8e36-2e683282cebf	g.chr17:38933340G>A	ENST00000301656.3	-	8	1331	c.1291C>T	c.(1291-1293)Cgt>Tgt	p.R431C	KRT27_ENST00000540723.1_5'UTR	NM_181537.3	NP_853515.2	Q7Z3Y8	K1C27_HUMAN	keratin 27	431	Tail.					cytoplasm|intermediate filament	structural molecule activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(3)|skin(1)|stomach(1)	21		Breast(137;0.000812)				ACTTTGCCACGAGGATCTATC	0.383													26	26					0	0	1	0	0	A	38933340	G	A	38933340	3	1	475	1	0	0	0	0	1	0	0	0	8507	1058	37	1	92	1	KRT27	17	38933340	Missense_Mutation	SNP	G	TCGA-TM-A84T-01A-11D-A36O-08	31356219	38933340	42261870	19	36791											
ZNF667	63934	broad.mit.edu	37	19	56953812	56953812	+	Missense_Mutation	SNP	G	G	C			TCGA-TM-A84T-01A-11D-A36O-08	TCGA-TM-A84T-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4017d95-80c7-4796-9a47-3d519313d062	ab62f550-4bee-40f4-8e36-2e683282cebf	g.chr19:56953812G>C	ENST00000504904.3	-	7	1271	c.552C>G	c.(550-552)atC>atG	p.I184M	ZNF667_ENST00000591790.1_3'UTR|ZNF667_ENST00000342634.3_Missense_Mutation_p.I312M|ZNF667_ENST00000292069.6_Missense_Mutation_p.I184M			Q5HYK9	ZN667_HUMAN	zinc finger protein 667	184					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)		GGATGGATGAGATCTGTCTGA	0.373													3	38					0	0	1	0	0	C	56953812	G	C	56953812	3	2	475	1	0	0	0	0	1	0	0	0	18131	932	33	4	1284	4	ZNF667	19	56953812	Missense_Mutation	SNP	G	TCGA-TM-A84T-01A-11D-A36O-08		56953812	2175171	20	36792											
ZNF335	63925	broad.mit.edu	37	20	44577646	44577646	+	Silent	SNP	T	T	C			TCGA-TM-A84T-01A-11D-A36O-08	TCGA-TM-A84T-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4017d95-80c7-4796-9a47-3d519313d062	ab62f550-4bee-40f4-8e36-2e683282cebf	g.chr20:44577646T>C	ENST00000322927.2	-	28	4075	c.3975A>G	c.(3973-3975)caA>caG	p.Q1325Q	ZNF335_ENST00000426788.1_Silent_p.Q1170Q	NM_022095.3	NP_071378.1	Q9H4Z2	ZN335_HUMAN	zinc finger protein 335	1325	Gln-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	51		Myeloproliferative disorder(115;0.0122)				GCTGCAGCTGTTGAATGTGTT	0.602													10	12					0	0	1	0	0	C	44577646	T	C	44577646	2	2	475	1	0	0	0	0	0	0	0	1	17909	1722	60	3		3	ZNF335	20	44577646	Silent	SNP	T	TCGA-TM-A84T-01A-11D-A36O-08		44577646	18447874	21	36793											
TIAM1	7074	broad.mit.edu	37	21	32638783	32638783	+	Missense_Mutation	SNP	C	C	T			TCGA-TM-A84T-01A-11D-A36O-08	TCGA-TM-A84T-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4017d95-80c7-4796-9a47-3d519313d062	ab62f550-4bee-40f4-8e36-2e683282cebf	g.chr21:32638783C>T	ENST00000286827.3	-	5	977	c.506G>A	c.(505-507)cGc>cAc	p.R169H	TIAM1_ENST00000541036.1_Missense_Mutation_p.R169H|TIAM1_ENST00000469412.1_Intron	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	169					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						AGATTTGGAGCGTTTCTTCTT	0.502													32	54					0	0	1	0	0	T	32638783	C	T	32638783	3	4	475	1	0	0	0	0	1	0	0	0	15950	768	27	1	4369	1	TIAM1	21	32638783	Missense_Mutation	SNP	C	TCGA-TM-A84T-01A-11D-A36O-08		32638783	15491112	22	36794											
HCCS	3052	broad.mit.edu	37	X	11139866	11139866	+	Missense_Mutation	SNP	C	C	T			TCGA-TM-A84T-01A-11D-A36O-08	TCGA-TM-A84T-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4017d95-80c7-4796-9a47-3d519313d062	ab62f550-4bee-40f4-8e36-2e683282cebf	g.chrX:11139866C>T	ENST00000321143.4	+	7	945	c.743C>T	c.(742-744)gCc>gTc	p.A248V	HCCS_ENST00000380762.4_Missense_Mutation_p.A248V|HCCS_ENST00000380763.3_Missense_Mutation_p.A248V|ARHGAP6_ENST00000534860.1_Intron	NM_001122608.2|NM_001171991.2|NM_005333.4	NP_001116080.1|NP_001165462.1|NP_005324.3	P53701	CCHL_HUMAN	holocytochrome c synthase	248					organ morphogenesis|oxidation-reduction process	mitochondrial inner membrane	holocytochrome-c synthase activity|metal ion binding			kidney(1)|large_intestine(3)|lung(3)	7						GTCCGTCCTGCCTTAGATTCA	0.428													12	15					0	0	1	0	0	T	11139866	C	T	11139866	3	4	475	1	0	0	0	0	1	0	0	0	7031	739	26	2	765	2	HCCS	23	11139866	Missense_Mutation	SNP	C	TCGA-TM-A84T-01A-11D-A36O-08		11139866	144130694	23	36795											
TLR7	51284	broad.mit.edu	37	X	12905884	12905884	+	Missense_Mutation	SNP	G	G	C			TCGA-TM-A84T-01A-11D-A36O-08	TCGA-TM-A84T-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4017d95-80c7-4796-9a47-3d519313d062	ab62f550-4bee-40f4-8e36-2e683282cebf	g.chrX:12905884G>C	ENST00000380659.3	+	3	2396	c.2257G>C	c.(2257-2259)Gat>Cat	p.D753H		NM_016562.3	NP_057646.1	Q9NYK1	TLR7_HUMAN	toll-like receptor 7	753					cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus	early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane	double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity			NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44					Imiquimod(DB00724)	GCGATATCTGGATCTCAGCTC	0.388													41	6					0	0	1	0	0	C	12905884	G	C	12905884	3	2	475	1	0	0	0	0	1	0	0	0	16016	1174	41	5	2263	5	TLR7	23	12905884	Missense_Mutation	SNP	G	TCGA-TM-A84T-01A-11D-A36O-08	1766018	12905884	142364676	24	36796											
ATRX	546	broad.mit.edu	37	X	76937603	76937603	+	Frame_Shift_Del	DEL	T	T	-			TCGA-TM-A84T-01A-11D-A36O-08	TCGA-TM-A84T-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4017d95-80c7-4796-9a47-3d519313d062	ab62f550-4bee-40f4-8e36-2e683282cebf	g.chrX:76937603delT	ENST00000373344.5	-	9	3359	c.3145delA	c.(3145-3147)atafs	p.I1049fs	ATRX_ENST00000395603.3_Frame_Shift_Del_p.I1011fs|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1049					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)	TTATCTCTTATTTTTTTACTT	0.328			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						68	25	---	---	---	---						-	76937603	T	-	76937603	7	5	475	1	0	1	0	1	0	0	0	0	1206	1493	52	0	4441	0	ATRX	23	76937603	Frame_Shift_Del	DEL	T	TCGA-TM-A84T-01A-11D-A36O-08	64031719	76937603	78332957	25	36797											
RER1	11079	broad.mit.edu	37	1	2334543	2334543	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RF-01A-11D-A33T-08	TCGA-TQ-A7RF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f	91c432f5-7d2f-45c4-8e8d-bc36f4fc9180	g.chr1:2334543G>A	ENST00000605895.1	+	7	704	c.571G>A	c.(571-573)Ggc>Agc	p.G191S	RER1_ENST00000378512.1_3'UTR|RER1_ENST00000378513.3_3'UTR|RER1_ENST00000488353.1_Missense_Mutation_p.G191S	NM_007033.4	NP_008964.3	O15258	RER1_HUMAN	retention in endoplasmic reticulum sorting receptor 1	191				HAATKGILVAMVCTFFDAFNVPVFWPILVMYFIMLFCITMK RQIKHMIKYRYIPFTHGKRRYRGKEDAGKAFAS -> DASV CGDGRCSCKAGGGRQCPVLAADAALTFSPHLKACGYQGHPC GYGLYFLRRFQRPGVLADSGDVLHHALLYHDEEANQAHD (in Ref. 2; AAC72940).	retrograde vesicle-mediated transport, Golgi to ER	integral to Golgi membrane				endometrium(3)|kidney(1)	4	all_cancers(77;0.000247)|all_epithelial(69;9.96e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;5.35e-20)|all_lung(118;2.78e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.28e-37)|OV - Ovarian serous cystadenocarcinoma(86;8.29e-23)|GBM - Glioblastoma multiforme(42;4.71e-08)|Colorectal(212;4.73e-05)|COAD - Colon adenocarcinoma(227;0.00021)|Kidney(185;0.00116)|BRCA - Breast invasive adenocarcinoma(365;0.00459)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0182)|Lung(427;0.204)		GGAGGATGCCGGCAAGGCCTT	0.498													4	156					0	0	1	0	0	A	2334543	G	A	2334543	3	1	476	1	0	0	0	0	1	0	0	0	13282	1116	39	1	593	1	RER1	1	2334543	Missense_Mutation	SNP	G	TCGA-TQ-A7RF-01A-11D-A33T-08		2334543	246916078	1	36798											
CELA3A	10136	broad.mit.edu	37	1	22336270	22336270	+	Missense_Mutation	SNP	G	G	C			TCGA-TQ-A7RF-01A-11D-A33T-08	TCGA-TQ-A7RF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f	91c432f5-7d2f-45c4-8e8d-bc36f4fc9180	g.chr1:22336270G>C	ENST00000290122.3	+	7	734	c.715G>C	c.(715-717)Gtt>Ctt	p.V239L		NM_005747.4	NP_005738.4			chymotrypsin-like elastase family, member 3A											endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						GACCAGCTTTGTTTCTGCCTT	0.612													3	86					0	0	1	0	0	C	22336270	G	C	22336270	3	2	476	1	0	0	0	0	1	0	0	0	3235	1377	48	5	741	5	CELA3A	1	22336270	Missense_Mutation	SNP	G	TCGA-TQ-A7RF-01A-11D-A33T-08	20001727	22336270	226914351	2	36799											
ZZZ3	26009	broad.mit.edu	37	1	78098001	78098001	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RF-01A-11D-A33T-08	TCGA-TQ-A7RF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f	91c432f5-7d2f-45c4-8e8d-bc36f4fc9180	g.chr1:78098001G>A	ENST00000370801.3	-	5	1514	c.1039C>T	c.(1039-1041)Cca>Tca	p.P347S	ZZZ3_ENST00000476275.1_5'UTR|ZZZ3_ENST00000370798.1_Intron	NM_015534.4	NP_056349.1	Q8IYH5	ZZZ3_HUMAN	zinc finger, ZZ-type containing 3	347					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.P347S(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(2)	39						CCGGAGGCTGGCATACTCTCA	0.443													4	247					0	0	1	0	0	A	78098001	G	A	78098001	3	1	476	1	0	0	0	0	1	0	0	0	18296	1203	42	2	1716	2	ZZZ3	1	78098001	Missense_Mutation	SNP	G	TCGA-TQ-A7RF-01A-11D-A33T-08	55761731	78098001	171152620	3	36800											
SLC16A1	6566	broad.mit.edu	37	1	113460447	113460447	+	Missense_Mutation	SNP	A	A	G			TCGA-TQ-A7RF-01A-11D-A33T-08	TCGA-TQ-A7RF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f	91c432f5-7d2f-45c4-8e8d-bc36f4fc9180	g.chr1:113460447A>G	ENST00000538576.1	-	4	1412	c.581T>C	c.(580-582)cTc>cCc	p.L194P	SLC16A1_ENST00000369626.3_Missense_Mutation_p.L194P|SLC16A1_ENST00000433570.4_Missense_Mutation_p.L194P	NM_001166496.1	NP_001159968.1	P53985	MOT1_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 1	194					blood coagulation|leukocyte migration|organic anion transport|pyruvate metabolic process	integral to membrane|membrane fraction|plasma membrane	mevalonate transmembrane transporter activity|protein binding|secondary active monocarboxylate transmembrane transporter activity|symporter activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|urinary_tract(1)	20	Lung SC(450;0.246)	all_cancers(81;7.6e-08)|all_epithelial(167;3.82e-07)|all_lung(203;3.07e-05)|Lung NSC(69;5.51e-05)|Prostate(1639;0.00232)		Epithelial(280;7.31e-13)|all cancers(265;5.1e-10)|Kidney(133;5.29e-07)|KIRC - Kidney renal clear cell carcinoma(1967;8.63e-06)|OV - Ovarian serous cystadenocarcinoma(397;1.48e-05)|BRCA - Breast invasive adenocarcinoma(282;0.003)|LUSC - Lung squamous cell carcinoma(189;0.008)|Lung(183;0.00948)|Colorectal(144;0.0325)|COAD - Colon adenocarcinoma(174;0.0643)	Pyruvic acid(DB00119)	TGGTCGCATGAGGGCTCCAGC	0.488													4	168					0	0	1	0	0	G	113460447	A	G	113460447	3	3	476	1	0	0	0	0	1	0	0	0	14457	304	11	3	929	3	SLC16A1	1	113460447	Missense_Mutation	SNP	A	TCGA-TQ-A7RF-01A-11D-A33T-08	35362446	113460447	135790174	4	36801											
FLG2	388698	broad.mit.edu	37	1	152324784	152324784	+	Silent	SNP	G	G	A			TCGA-TQ-A7RF-01A-11D-A33T-08	TCGA-TQ-A7RF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f	91c432f5-7d2f-45c4-8e8d-bc36f4fc9180	g.chr1:152324784G>A	ENST00000388718.5	-	3	5550	c.5478C>T	c.(5476-5478)caC>caT	p.H1826H	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1826							calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CAGCCTGGCCGTGAGTGTGTC	0.512													244	239					0	0	1	0	0	A	152324784	G	A	152324784	2	1	476	1	0	0	0	0	0	0	0	1	5956	1136	40	1		1	FLG2	1	152324784	Silent	SNP	G	TCGA-TQ-A7RF-01A-11D-A33T-08	38864337	152324784	96925837	5	36802											
MSTO1	55154	broad.mit.edu	37	1	155582849	155582849	+	Missense_Mutation	SNP	G	G	T			TCGA-TQ-A7RF-01A-11D-A33T-08	TCGA-TQ-A7RF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f	91c432f5-7d2f-45c4-8e8d-bc36f4fc9180	g.chr1:155582849G>T	ENST00000245564.2	+	11	1132	c.1108G>T	c.(1108-1110)Gca>Tca	p.A370S	MSTO1_ENST00000483734.1_3'UTR|MSTO1_ENST00000368341.4_Missense_Mutation_p.A335S|MSTO1_ENST00000538143.1_Intron|MSTO1_ENST00000452804.2_Intron	NM_001256532.1|NM_001256533.1|NM_018116.3	NP_001243461.1|NP_001243462.1|NP_060586.2	Q9BUK6	MSTO1_HUMAN	misato 1, mitochondrial distribution and morphology regulator	370					mitochondrion distribution|protein polymerization	mitochondrial outer membrane|protein complex				breast(2)|endometrium(1)|lung(3)|skin(1)	7	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)					GGTGGTGACAGCAGGAGCAAT	0.517													6	167					5.68852e-11	6.48492e-11	1	1	0	T	155582849	G	T	155582849	3	4	476	1	0	0	0	0	1	0	0	0	9942	971	34	4	1150	4	MSTO1	1	155582849	Missense_Mutation	SNP	G	TCGA-TQ-A7RF-01A-11D-A33T-08	3258065	155582849	93667772	6	36803											
PRG4	10216	broad.mit.edu	37	1	186277784	186277784	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RF-01A-11D-A33T-08	TCGA-TQ-A7RF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f	91c432f5-7d2f-45c4-8e8d-bc36f4fc9180	g.chr1:186277784C>T	ENST00000445192.2	+	7	2978	c.2933C>T	c.(2932-2934)aCa>aTa	p.T978I	PRG4_ENST00000367485.4_Missense_Mutation_p.T885I|PRG4_ENST00000367483.4_Missense_Mutation_p.T937I|PRG4_ENST00000367486.3_Missense_Mutation_p.T935I|PRG4_ENST00000367484.3_Missense_Mutation_p.T507I	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	978					cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						ACTCTTAAAACAACTACTCTT	0.353													122	179					0	0	1	0	0	T	186277784	C	T	186277784	3	4	476	1	0	0	0	0	1	0	0	0	12533	478	17	2	2955	2	PRG4	1	186277784	Missense_Mutation	SNP	C	TCGA-TQ-A7RF-01A-11D-A33T-08	30694935	186277784	62972837	7	36804											
DFNB59	494513	broad.mit.edu	37	2	179319178	179319178	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RF-01A-11D-A33T-08	TCGA-TQ-A7RF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f	91c432f5-7d2f-45c4-8e8d-bc36f4fc9180	g.chr2:179319178G>A	ENST00000409117.3	+	3	687	c.331G>A	c.(331-333)Gca>Aca	p.A111T	DFNB59_ENST00000375129.4_Missense_Mutation_p.A111T	NM_001042702.3	NP_001036167.1	Q0ZLH3	PJVK_HUMAN	deafness, autosomal recessive 59	111					sensory perception of sound					breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.0159)|all cancers(119;0.0564)			AGATTCCATTGCAGTGAAAGC	0.348													6	157					0	0	1	0	0	A	179319178	G	A	179319178	3	1	476	1	0	0	0	0	1	0	0	0	4484	1319	46	2	337	2	DFNB59	2	179319178	Missense_Mutation	SNP	G	TCGA-TQ-A7RF-01A-11D-A33T-08		179319178	63880195	8	36805											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-TQ-A7RF-01A-11D-A33T-08	TCGA-TQ-A7RF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f	91c432f5-7d2f-45c4-8e8d-bc36f4fc9180	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								74	99					0	0	1	0	0	T	209113112	C	T	209113112	3	4	476	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-TQ-A7RF-01A-11D-A33T-08	29793934	209113112	34086261	9	36806											
PTH1R	5745	broad.mit.edu	37	3	46944925	46944925	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RF-01A-11D-A33T-08	TCGA-TQ-A7RF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f	91c432f5-7d2f-45c4-8e8d-bc36f4fc9180	g.chr3:46944925C>T	ENST00000449590.1	+	16	1764	c.1561C>T	c.(1561-1563)Cgc>Tgc	p.R521C	PTH1R_ENST00000430002.2_Missense_Mutation_p.R521C|PTH1R_ENST00000418619.1_Missense_Mutation_p.R521C|PTH1R_ENST00000313049.5_Missense_Mutation_p.R521C	NM_000316.2	NP_000307.1	Q03431	PTH1R_HUMAN	parathyroid hormone 1 receptor	521						cytoplasm|integral to plasma membrane|nucleus	parathyroid hormone receptor activity|peptide hormone binding|protein self-association			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(2)|stomach(1)|urinary_tract(2)	19						CCTCAGCCCCCGCCTACTGCC	0.682													50	60					0	0	1	0	0	T	46944925	C	T	46944925	3	4	476	1	0	0	0	0	1	0	0	0	12808	652	23	1	1615	1	PTH1R	3	46944925	Missense_Mutation	SNP	C	TCGA-TQ-A7RF-01A-11D-A33T-08		46944925	151077505	10	36807											
MORC1	27136	broad.mit.edu	37	3	108773717	108773717	+	Silent	SNP	G	G	A			TCGA-TQ-A7RF-01A-11D-A33T-08	TCGA-TQ-A7RF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f	91c432f5-7d2f-45c4-8e8d-bc36f4fc9180	g.chr3:108773717G>A	ENST00000232603.5	-	14	1270	c.1188C>T	c.(1186-1188)ggC>ggT	p.G396G	MORC1_ENST00000483760.1_Silent_p.G396G	NM_014429.3	NP_055244.3	Q86VD1	MORC1_HUMAN	MORC family CW-type zinc finger 1	396					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						TTCCAACCACGCCTGCGCCAA	0.308													63	102					0	0	1	0	0	A	108773717	G	A	108773717	2	1	476	1	0	0	0	0	0	0	0	1	9750	1074	38	1		1	MORC1	3	108773717	Silent	SNP	G	TCGA-TQ-A7RF-01A-11D-A33T-08	61828792	108773717	89248713	11	36808											
BANK1	55024	broad.mit.edu	37	4	102791660	102791661	+	Splice_Site	DEL	AG	AG	-			TCGA-TQ-A7RF-01A-11D-A33T-08	TCGA-TQ-A7RF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f	91c432f5-7d2f-45c4-8e8d-bc36f4fc9180	g.chr4:102791660_102791661delAG	ENST00000504592.1	+	9	1136		c.e9-1		BANK1_ENST00000444316.2_Splice_Site|BANK1_ENST00000428908.1_Splice_Site|BANK1_ENST00000508653.1_Splice_Site|BANK1_ENST00000322953.4_Splice_Site			Q8NDB2	BANK1_HUMAN	B-cell scaffold protein with ankyrin repeats 1						B cell activation					NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|liver(2)|lung(16)|ovary(2)|skin(2)|urinary_tract(1)	44		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)		GTTTTTCATAAGAGTTTCCTGC	0.342													87	107	---	---	---	---						-	102791661	AG	-	102791660	8	5	476	1	0	1	0	1	0	0	1	0	1307	86	3	0	780	0	BANK1	4	102791660	Splice_Site	DEL	AG	TCGA-TQ-A7RF-01A-11D-A33T-08		102791660	88362616	12	36809											
CENPE	1062	broad.mit.edu	37	4	104062907	104062907	+	Splice_Site	SNP	C	C	A			TCGA-TQ-A7RF-01A-11D-A33T-08	TCGA-TQ-A7RF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f	91c432f5-7d2f-45c4-8e8d-bc36f4fc9180	g.chr4:104062907C>A	ENST00000265148.3	-	35	5552	c.5463G>T	c.(5461-5463)aaG>aaT	p.K1821N	CENPE_ENST00000380026.3_Splice_Site_p.K1796N	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	1821					blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		ATAAAAATACCTTTTCTTGTA	0.313													7	103					0.0293803	0.0315977	1	1	0	A	104062907	C	A	104062907	5	1	476	1	0	0	0	0	0	0	1	0	3252	695	24	4	2702	4	CENPE	4	104062907	Splice_Site	SNP	C	TCGA-TQ-A7RF-01A-11D-A33T-08	1271247	104062907	87091369	13	36810											
ANK2	287	broad.mit.edu	37	4	114208764	114208764	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RF-01A-11D-A33T-08	TCGA-TQ-A7RF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f	91c432f5-7d2f-45c4-8e8d-bc36f4fc9180	g.chr4:114208764G>A	ENST00000357077.4	+	19	2136	c.2083G>A	c.(2083-2085)Gga>Aga	p.G695R	ANK2_ENST00000506722.1_Missense_Mutation_p.G674R|ANK2_ENST00000264366.6_Missense_Mutation_p.G695R|ANK2_ENST00000394537.3_Missense_Mutation_p.G695R	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	695					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TCTGTAGAGTGGACTCACATC	0.348													10	95					0	0	1	0	0	A	114208764	G	A	114208764	3	1	476	1	0	0	0	0	1	0	0	0	617	1349	47	2	2182	2	ANK2	4	114208764	Missense_Mutation	SNP	G	TCGA-TQ-A7RF-01A-11D-A33T-08	10145857	114208764	76945512	14	36811											
SLC10A7	84068	broad.mit.edu	37	4	147431123	147431123	+	Missense_Mutation	SNP	T	T	C			TCGA-TQ-A7RF-01A-11D-A33T-08	TCGA-TQ-A7RF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f	91c432f5-7d2f-45c4-8e8d-bc36f4fc9180	g.chr4:147431123T>C	ENST00000432059.2	-	3	508	c.262A>G	c.(262-264)Ata>Gta	p.I88V	SLC10A7_ENST00000507030.1_Missense_Mutation_p.I88V|SLC10A7_ENST00000511315.1_5'UTR|SLC10A7_ENST00000394059.4_Missense_Mutation_p.I88V|SLC10A7_ENST00000394062.3_Missense_Mutation_p.I88V|SLC10A7_ENST00000335472.7_Missense_Mutation_p.I88V|SLC10A7_ENST00000511374.1_Intron|SLC10A7_ENST00000264986.3_Intron			Q0GE19	NTCP7_HUMAN	solute carrier family 10, member 7	88						integral to membrane	bile acid:sodium symporter activity			endometrium(1)|kidney(3)|large_intestine(3)|lung(8)|skin(1)	16	all_hematologic(180;0.151)					AAAAGCCATATTGTTGCTGGG	0.368													86	71					0	0	1	0	0	C	147431123	T	C	147431123	3	2	476	1	0	0	0	0	1	0	0	0	14434	1493	52	3	845	3	SLC10A7	4	147431123	Missense_Mutation	SNP	T	TCGA-TQ-A7RF-01A-11D-A33T-08	33222359	147431123	43723153	15	36812											
PCDHB6	56130	broad.mit.edu	37	5	140531282	140531282	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RF-01A-11D-A33T-08	TCGA-TQ-A7RF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f	91c432f5-7d2f-45c4-8e8d-bc36f4fc9180	g.chr5:140531282G>A	ENST00000231136.1	+	1	1444	c.1444G>A	c.(1444-1446)Gcc>Acc	p.A482T	PCDHB6_ENST00000543635.1_Missense_Mutation_p.A346T	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN		482	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGGCATCAACGCCCAGGTCAC	0.642													184	225					0	0	1	0	0	A	140531282	G	A	140531282	3	1	476	1	0	0	0	0	1	0	0	0	11593	1087	38	1	1446	1	PCDHB6	5	140531282	Missense_Mutation	SNP	G	TCGA-TQ-A7RF-01A-11D-A33T-08		140531282	40383978	16	36813											
MDC1	9656	broad.mit.edu	37	6	30668317	30668317	+	Silent	SNP	C	C	A			TCGA-TQ-A7RF-01A-11D-A33T-08	TCGA-TQ-A7RF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f	91c432f5-7d2f-45c4-8e8d-bc36f4fc9180	g.chr6:30668317C>A	ENST00000376406.3	-	15	6842	c.6195G>T	c.(6193-6195)ctG>ctT	p.L2065L	MDC1_ENST00000376405.2_Silent_p.L1801L	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	2065	BRCT 2.|Required for nuclear localization (NLS2).				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|kidney(1)|ovary(1)	4						CTCCAGTCAGCAGGAACTCAG	0.572								Other conserved DNA damage response genes					87	170					2.38877e-28	2.89702e-28	1	1	0	A	30668317	C	A	30668317	2	1	476	1	0	0	0	0	0	0	0	1	9453	697	25	5		5	MDC1	6	30668317	Silent	SNP	C	TCGA-TQ-A7RF-01A-11D-A33T-08		30668317	140446750	17	36814											
TFAP2D	83741	broad.mit.edu	37	6	50682829	50682829	+	Splice_Site	SNP	A	A	G			TCGA-TQ-A7RF-01A-11D-A33T-08	TCGA-TQ-A7RF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f	91c432f5-7d2f-45c4-8e8d-bc36f4fc9180	g.chr6:50682829A>G	ENST00000008391.3	+	2	268	c.40A>G	c.(40-42)Ata>Gta	p.I14V		NM_172238.3	NP_758438.2	Q7Z6R9	AP2D_HUMAN	transcription factor AP-2 delta (activating enhancer binding protein 2 delta)	14							DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1)	60	Lung NSC(77;0.0334)					TTCCTTCCAGATACGTCACGA	0.527													6	172					0	0	1	0	0	G	50682829	A	G	50682829	5	3	476	1	0	0	0	0	0	0	1	0	15850	347	12	3	46	3	TFAP2D	6	50682829	Splice_Site	SNP	A	TCGA-TQ-A7RF-01A-11D-A33T-08	20014512	50682829	120432238	18	36815											
GRM1	2911	broad.mit.edu	37	6	146755399	146755401	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-TQ-A7RF-01A-11D-A33T-08	TCGA-TQ-A7RF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f	91c432f5-7d2f-45c4-8e8d-bc36f4fc9180	g.chr6:146755399_146755401delCAG	ENST00000361719.2	+	9	3522_3524	c.3052_3054delCAG	c.(3052-3054)cagdel	p.Q1022del	GRM1_ENST00000392299.2_3'UTR|GRM1_ENST00000282753.1_In_Frame_Del_p.Q1022del|GRM1_ENST00000355289.4_3'UTR|GRM1_ENST00000507907.1_3'UTR|GRM1_ENST00000492807.2_3'UTR	NM_001278064.1	NP_001264993.1	Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	1022	Gln/Pro-rich.				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	CCCTCCTCTCCAGCAGCAGCAGC	0.66													7	146	---	---	---	---						-	146755401	CAG	-	146755399	7	5	476	1	0	1	0	1	0	0	0	0	6837	595	21	0	3147	0	GRM1	6	146755399	In_Frame_Del	DEL	CAG	TCGA-TQ-A7RF-01A-11D-A33T-08	96072570	146755399	24359668	19	36816											
PHF10	55274	broad.mit.edu	37	6	170115929	170115930	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-TQ-A7RF-01A-11D-A33T-08	TCGA-TQ-A7RF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f	91c432f5-7d2f-45c4-8e8d-bc36f4fc9180	g.chr6:170115929_170115930delTC	ENST00000339209.4	-	6	690_691	c.567_568delGA	c.(565-570)cagaaafs	p.K190fs	PHF10_ENST00000366780.4_Frame_Shift_Del_p.K188fs	NM_018288.3|NM_133325.2	NP_060758.2|NP_579866.2	Q8WUB8	PHF10_HUMAN	PHD finger protein 10	190	SAY.				nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	npBAF complex	zinc ion binding			endometrium(2)|large_intestine(2)|liver(3)|lung(4)|prostate(2)|urinary_tract(1)	14		Breast(66;5.08e-05)|Ovarian(120;0.208)		OV - Ovarian serous cystadenocarcinoma(33;1.4e-21)|BRCA - Breast invasive adenocarcinoma(81;1.4e-07)|GBM - Glioblastoma multiforme(31;0.00176)		GCTTCAACTTTCTGAGTATTCT	0.351													66	22	---	---	---	---						-	170115930	TC	-	170115929	7	5	476	1	0	1	0	1	0	0	0	0	11869	1792	62	0	956	0	PHF10	6	170115929	Frame_Shift_Del	DEL	TC	TCGA-TQ-A7RF-01A-11D-A33T-08	23360530	170115929	999138	20	36817											
PLEKHA8	84725	broad.mit.edu	37	7	30085837	30085837	+	Missense_Mutation	SNP	G	G	C			TCGA-TQ-A7RF-01A-11D-A33T-08	TCGA-TQ-A7RF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f	91c432f5-7d2f-45c4-8e8d-bc36f4fc9180	g.chr7:30085837G>C	ENST00000449726.1	+	3	519	c.169G>C	c.(169-171)Gat>Cat	p.D57H	PLEKHA8_ENST00000396257.2_Missense_Mutation_p.D57H|PLEKHA8_ENST00000258679.7_Missense_Mutation_p.D57H|PLEKHA8_ENST00000483799.1_3'UTR|PLEKHA8_ENST00000396259.1_Missense_Mutation_p.D57H	NM_001197027.1	NP_001183956.1	Q96JA3	PKHA8_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 8	57	PH.				protein transport	cytoplasm	glycolipid binding|glycolipid transporter activity			breast(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)	17						TCATTCTGTAGATAATACACG	0.517													108	132					0	0	1	0	0	C	30085837	G	C	30085837	3	2	476	1	0	0	0	0	1	0	0	0	12110	942	33	4	179	4	PLEKHA8	7	30085837	Missense_Mutation	SNP	G	TCGA-TQ-A7RF-01A-11D-A33T-08		30085837	129052826	21	36818											
KIAA1429	25962	broad.mit.edu	37	8	95531654	95531654	+	Missense_Mutation	SNP	A	A	C			TCGA-TQ-A7RF-01A-11D-A33T-08	TCGA-TQ-A7RF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f	91c432f5-7d2f-45c4-8e8d-bc36f4fc9180	g.chr8:95531654A>C	ENST00000297591.5	-	9	2147	c.2072T>G	c.(2071-2073)aTt>aGt	p.I691S	KIAA1429_ENST00000437199.1_Missense_Mutation_p.I691S|KIAA1429_ENST00000421249.2_Missense_Mutation_p.I691S	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	691					mRNA processing|RNA splicing	nucleus				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			TGTTACTGGAATTGACAGAAG	0.408													84	118					0	0	1	0	0	C	95531654	A	C	95531654	3	2	476	1	0	0	0	0	1	0	0	0	8273	101	4	4	3484	4	KIAA1429	8	95531654	Missense_Mutation	SNP	A	TCGA-TQ-A7RF-01A-11D-A33T-08		95531654	50832368	22	36819											
CSMD3	114788	broad.mit.edu	37	8	113484839	113484839	+	Missense_Mutation	SNP	T	T	C			TCGA-TQ-A7RF-01A-11D-A33T-08	TCGA-TQ-A7RF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f	91c432f5-7d2f-45c4-8e8d-bc36f4fc9180	g.chr8:113484839T>C	ENST00000297405.5	-	32	5620	c.5376A>G	c.(5374-5376)atA>atG	p.I1792M	CSMD3_ENST00000343508.3_Missense_Mutation_p.I1752M|CSMD3_ENST00000455883.2_Missense_Mutation_p.I1688M|CSMD3_ENST00000352409.3_Missense_Mutation_p.I1792M	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1792	CUB 10.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TTGGAACTGCTATAGAATAAA	0.353										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			46	288					0	0	1	0	0	C	113484839	T	C	113484839	3	2	476	1	0	0	0	0	1	0	0	0	3971	1512	53	3	5907	3	CSMD3	8	113484839	Missense_Mutation	SNP	T	TCGA-TQ-A7RF-01A-11D-A33T-08	17953185	113484839	32879183	23	36820											
CSMD3	114788	broad.mit.edu	37	8	113484933	113484933	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RF-01A-11D-A33T-08	TCGA-TQ-A7RF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f	91c432f5-7d2f-45c4-8e8d-bc36f4fc9180	g.chr8:113484933G>A	ENST00000297405.5	-	32	5526	c.5282C>T	c.(5281-5283)cCc>cTc	p.P1761L	CSMD3_ENST00000343508.3_Missense_Mutation_p.P1721L|CSMD3_ENST00000455883.2_Missense_Mutation_p.P1657L|CSMD3_ENST00000352409.3_Missense_Mutation_p.P1761L	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1761						integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ACTTCCACAGGGCGCTAGGAA	0.318										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			28	184					0	0	1	0	0	A	113484933	G	A	113484933	3	1	476	1	0	0	0	0	1	0	0	0	3971	1232	43	2	6001	2	CSMD3	8	113484933	Missense_Mutation	SNP	G	TCGA-TQ-A7RF-01A-11D-A33T-08	94	113484933	32879089	24	36821											
TMEM2	23670	broad.mit.edu	37	9	74347348	74347348	+	Missense_Mutation	SNP	G	G	C			TCGA-TQ-A7RF-01A-11D-A33T-08	TCGA-TQ-A7RF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f	91c432f5-7d2f-45c4-8e8d-bc36f4fc9180	g.chr9:74347348G>C	ENST00000377044.4	-	7	2021	c.1482C>G	c.(1480-1482)atC>atG	p.I494M	TMEM2_ENST00000377066.5_Missense_Mutation_p.I431M	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2	494						integral to membrane				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		CTTCTCCTTGGATCACAATAT	0.438													78	96					0	0	1	0	0	C	74347348	G	C	74347348	3	2	476	1	0	0	0	0	1	0	0	0	16181	1164	41	5	2741	5	TMEM2	9	74347348	Missense_Mutation	SNP	G	TCGA-TQ-A7RF-01A-11D-A33T-08		74347348	66866083	25	36822											
RNF20	56254	broad.mit.edu	37	9	104307093	104307093	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RF-01A-11D-A33T-08	TCGA-TQ-A7RF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f	91c432f5-7d2f-45c4-8e8d-bc36f4fc9180	g.chr9:104307093C>T	ENST00000389120.3	+	6	763	c.673C>T	c.(673-675)Ctc>Ttc	p.L225F		NM_019592.5	NP_062538.5	Q5VTR2	BRE1A_HUMAN	ring finger protein 20, E3 ubiquitin protein ligase	225					histone H2B ubiquitination|histone monoubiquitination|negative regulation of cell migration|positive regulation of transcription, DNA-dependent|protein polyubiquitination|ubiquitin-dependent protein catabolic process	nucleolus|ubiquitin ligase complex	histone binding|p53 binding|transcription coactivator activity|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(3)|kidney(6)|large_intestine(7)|lung(23)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311)		GAACTCTTTCCTCGCACAGGA	0.413													5	157					0	0	1	0	0	T	104307093	C	T	104307093	3	4	476	1	0	0	0	0	1	0	0	0	13525	681	24	2	691	2	RNF20	9	104307093	Missense_Mutation	SNP	C	TCGA-TQ-A7RF-01A-11D-A33T-08	29959745	104307093	36906338	26	36823											
NRP1	8829	broad.mit.edu	37	10	33619800	33619800	+	Silent	SNP	G	G	A			TCGA-TQ-A7RF-01A-11D-A33T-08	TCGA-TQ-A7RF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f	91c432f5-7d2f-45c4-8e8d-bc36f4fc9180	g.chr10:33619800G>A	ENST00000265371.4	-	3	609	c.84C>T	c.(82-84)ggC>ggT	p.G28G	NRP1_ENST00000395995.1_Silent_p.G28G|NRP1_ENST00000374875.1_5'UTR|NRP1_ENST00000374867.2_Silent_p.G28G|NRP1_ENST00000374816.3_Silent_p.G28G|NRP1_ENST00000374822.4_Silent_p.G28G|NRP1_ENST00000374821.5_Silent_p.G28G|NRP1_ENST00000374823.5_Silent_p.G28G|NRP1_ENST00000432372.2_Silent_p.G28G			O14786	NRP1_HUMAN	neuropilin 1	28	CUB 1.				axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation	extracellular region|integral to membrane|plasma membrane	growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	48					Palifermin(DB00039)|Pegaptanib(DB04895)	TTATAGTATCGCCACATTTAT	0.378													36	90					0	0	1	0	0	A	33619800	G	A	33619800	2	1	476	1	0	0	0	0	0	0	0	1	10708	1074	38	1		1	NRP1	10	33619800	Silent	SNP	G	TCGA-TQ-A7RF-01A-11D-A33T-08		33619800	101914947	27	36824											
FAM35A	54537	broad.mit.edu	37	10	88911830	88911830	+	Missense_Mutation	SNP	C	C	A			TCGA-TQ-A7RF-01A-11D-A33T-08	TCGA-TQ-A7RF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f	91c432f5-7d2f-45c4-8e8d-bc36f4fc9180	g.chr10:88911830C>A	ENST00000298786.4	+	3	833	c.719C>A	c.(718-720)aCa>aAa	p.T240K	FAM35A_ENST00000298784.1_Missense_Mutation_p.T240K			Q86V20	FA35A_HUMAN	family with sequence similarity 35, member A	240								p.T240K(2)		endometrium(2)|kidney(2)|large_intestine(5)|lung(1)|ovary(2)|prostate(2)|skin(2)	16						TCAACTGATACAGAATTTCTC	0.388													4	127					1	1	1	1	0	A	88911830	C	A	88911830	3	1	476	1	0	0	0	0	1	0	0	0	5589	478	17	5	721	5	FAM35A	10	88911830	Missense_Mutation	SNP	C	TCGA-TQ-A7RF-01A-11D-A33T-08	55292030	88911830	46622917	28	36825											
CDHR5	53841	broad.mit.edu	37	11	621209	621209	+	Silent	SNP	G	G	A			TCGA-TQ-A7RF-01A-11D-A33T-08	TCGA-TQ-A7RF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f	91c432f5-7d2f-45c4-8e8d-bc36f4fc9180	g.chr11:621209G>A	ENST00000358353.3	-	8	982	c.660C>T	c.(658-660)acC>acT	p.T220T	CDHR5_ENST00000349570.7_Silent_p.T220T|CDHR5_ENST00000397542.2_Silent_p.T220T			Q9HBB8	CDHR5_HUMAN	cadherin-related family member 5	220	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	23						CTAGTGTGGCGGTGGCAGTGT	0.652													52	56					0	0	1	0	0	A	621209	G	A	621209	2	1	476	1	0	0	0	0	0	0	0	1	3144	1103	39	1		1	CDHR5	11	621209	Silent	SNP	G	TCGA-TQ-A7RF-01A-11D-A33T-08		621209	134385307	29	36826											
OR4C13	283092	broad.mit.edu	37	11	49974720	49974720	+	Missense_Mutation	SNP	T	T	A			TCGA-TQ-A7RF-01A-11D-A33T-08	TCGA-TQ-A7RF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f	91c432f5-7d2f-45c4-8e8d-bc36f4fc9180	g.chr11:49974720T>A	ENST00000555099.1	+	1	778	c.746T>A	c.(745-747)tTt>tAt	p.F249Y		NM_001001955.2	NP_001001955.2	Q8NGP0	OR4CD_HUMAN	olfactory receptor, family 4, subfamily C, member 13	249					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	43						ATCTTATCCTTTATACCCTGC	0.438													138	200					0	0	1	0	0	A	49974720	T	A	49974720	3	1	476	1	0	0	0	0	1	0	0	0	11095	1841	64	5	748	5	OR4C13	11	49974720	Missense_Mutation	SNP	T	TCGA-TQ-A7RF-01A-11D-A33T-08	49353511	49974720	85031796	30	36827	152	2									
OR4C13	283092	broad.mit.edu	37	11	49974721	49974721	+	Silent	SNP	T	T	C			TCGA-TQ-A7RF-01A-11D-A33T-08	TCGA-TQ-A7RF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f	91c432f5-7d2f-45c4-8e8d-bc36f4fc9180	g.chr11:49974721T>C	ENST00000555099.1	+	1	779	c.747T>C	c.(745-747)ttT>ttC	p.F249F		NM_001001955.2	NP_001001955.2	Q8NGP0	OR4CD_HUMAN	olfactory receptor, family 4, subfamily C, member 13	249					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	43						TCTTATCCTTTATACCCTGCA	0.438													141	197					0	0	1	0	0	C	49974721	T	C	49974721	2	2	476	1	0	0	0	0	0	0	0	1	11095	1751	61	3		3	OR4C13	11	49974721	Silent	SNP	T	TCGA-TQ-A7RF-01A-11D-A33T-08	1	49974721	85031795	31	36828	152	2									
OR10W1	81341	broad.mit.edu	37	11	58034747	58034747	+	Missense_Mutation	SNP	A	A	T			TCGA-TQ-A7RF-01A-11D-A33T-08	TCGA-TQ-A7RF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f	91c432f5-7d2f-45c4-8e8d-bc36f4fc9180	g.chr11:58034747A>T	ENST00000395079.2	-	1	985	c.584T>A	c.(583-585)aTa>aAa	p.I195K		NM_207374.3	NP_997257.2	Q8NGF6	O10W1_HUMAN	olfactory receptor, family 10, subfamily W, member 1	195					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(1)	26		Breast(21;0.0589)				AATGGCTAGTATGGCTGCCAC	0.547													36	36					0	0	1	0	0	T	58034747	A	T	58034747	3	4	476	1	0	0	0	0	1	0	0	0	10969	449	16	4	337	4	OR10W1	11	58034747	Missense_Mutation	SNP	A	TCGA-TQ-A7RF-01A-11D-A33T-08	8060026	58034747	76971769	32	36829											
SLC22A9	114571	broad.mit.edu	37	11	63149682	63149682	+	Missense_Mutation	SNP	C	C	A			TCGA-TQ-A7RF-01A-11D-A33T-08	TCGA-TQ-A7RF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f	91c432f5-7d2f-45c4-8e8d-bc36f4fc9180	g.chr11:63149682C>A	ENST00000279178.3	+	6	1255	c.1006C>A	c.(1006-1008)Cct>Act	p.P336T	SLC22A9_ENST00000310969.4_3'UTR	NM_080866.2	NP_543142.2	Q8IVM8	S22A9_HUMAN	solute carrier family 22 (organic anion transporter), member 9	336					transmembrane transport	integral to membrane				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	18						AAAAAAAAAACCTTCTCTGTG	0.388													6	369					0.0381472	0.0402665	1	1	0	A	63149682	C	A	63149682	3	1	476	1	0	0	0	0	1	0	0	0	14516	507	18	5	1028	5	SLC22A9	11	63149682	Missense_Mutation	SNP	C	TCGA-TQ-A7RF-01A-11D-A33T-08	5114935	63149682	71856834	33	36830											
CD163	9332	broad.mit.edu	37	12	7639259	7639259	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RF-01A-11D-A33T-08	TCGA-TQ-A7RF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f	91c432f5-7d2f-45c4-8e8d-bc36f4fc9180	g.chr12:7639259G>A	ENST00000359156.4	-	10	2496	c.2294C>T	c.(2293-2295)gCc>gTc	p.A765V	CD163_ENST00000432237.2_Missense_Mutation_p.A765V|CD163_ENST00000541972.1_Missense_Mutation_p.A753V|CD163_ENST00000396620.3_Missense_Mutation_p.A798V	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	765	SRCR 7.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						GGCATTAATGGCCTCTCCACA	0.537													41	218					0	0	1	0	0	A	7639259	G	A	7639259	3	1	476	1	0	0	0	0	1	0	0	0	2989	1203	42	2	1204	2	CD163	12	7639259	Missense_Mutation	SNP	G	TCGA-TQ-A7RF-01A-11D-A33T-08		7639259	126212636	34	36831											
TMX1	81542	broad.mit.edu	37	14	51713839	51713839	+	Missense_Mutation	SNP	A	A	G			TCGA-TQ-A7RF-01A-11D-A33T-08	TCGA-TQ-A7RF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f	91c432f5-7d2f-45c4-8e8d-bc36f4fc9180	g.chr14:51713839A>G	ENST00000457354.2	+	4	469	c.344A>G	c.(343-345)cAg>cGg	p.Q115R		NM_030755.4	NP_110382.3	Q9H3N1	TMX1_HUMAN	thioredoxin-related transmembrane protein 1	115	Thioredoxin.				anti-apoptosis|cell proliferation|cell redox homeostasis|DNA replication|electron transport chain|ER to Golgi vesicle-mediated transport|leukocyte activation|positive regulation of growth|positive regulation of transcription, DNA-dependent|response to stress|signal transduction	endoplasmic reticulum membrane|integral to membrane|membrane fraction	arsenate reductase (thioredoxin) activity|disulfide oxidoreductase activity			endometrium(2)|large_intestine(2)|urinary_tract(1)	5						AGGCGCTATCAGGGTCCAAGG	0.338													4	204					0	0	1	0	0	G	51713839	A	G	51713839	3	3	476	1	0	0	0	0	1	0	0	0	16326	188	7	3	358	3	TMX1	14	51713839	Missense_Mutation	SNP	A	TCGA-TQ-A7RF-01A-11D-A33T-08		51713839	55635701	35	36832											
TLN2	83660	broad.mit.edu	37	15	63092622	63092622	+	Missense_Mutation	SNP	G	G	T			TCGA-TQ-A7RF-01A-11D-A33T-08	TCGA-TQ-A7RF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f	91c432f5-7d2f-45c4-8e8d-bc36f4fc9180	g.chr15:63092622G>T	ENST00000561311.1	+	48	6520	c.6290G>T	c.(6289-6291)aGt>aTt	p.S2097I	TLN2_ENST00000306829.6_Missense_Mutation_p.S2097I			Q9Y4G6	TLN2_HUMAN	talin 2	2097					cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						GATCTCATCAGTGCTACCAAG	0.552													7	229					0.0293803	0.0315977	1	1	0	T	63092622	G	T	63092622	3	4	476	1	0	0	0	0	1	0	0	0	16008	1029	36	4	6472	4	TLN2	15	63092622	Missense_Mutation	SNP	G	TCGA-TQ-A7RF-01A-11D-A33T-08		63092622	39438770	36	36833											
NUBP2	10101	broad.mit.edu	37	16	1838702	1838702	+	Missense_Mutation	SNP	C	C	A			TCGA-TQ-A7RF-01A-11D-A33T-08	TCGA-TQ-A7RF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f	91c432f5-7d2f-45c4-8e8d-bc36f4fc9180	g.chr16:1838702C>A	ENST00000262302.9	+	7	923	c.803C>A	c.(802-804)gCg>gAg	p.A268E	NUBP2_ENST00000543305.1_Missense_Mutation_p.A127E|NUBP2_ENST00000565987.1_Missense_Mutation_p.A208E|NUBP2_ENST00000568706.1_Missense_Mutation_p.A127E	NM_001284501.1|NM_012225.2	NP_001271430.1|NP_036357.1	Q9Y5Y2	NUBP2_HUMAN	nucleotide binding protein 2	268						microtubule organizing center|nucleus	4 iron, 4 sulfur cluster binding|ATP binding|metal ion binding|protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	6						GCGACGCCCGCGTGCCTCCCC	0.652													3	53					1	1	1	1	0	A	1838702	C	A	1838702	3	1	476	1	0	0	0	0	1	0	0	0	10764	768	27	5	829	5	NUBP2	16	1838702	Missense_Mutation	SNP	C	TCGA-TQ-A7RF-01A-11D-A33T-08		1838702	88516051	37	36834											
ITGAL	3683	broad.mit.edu	37	16	30505561	30505561	+	Silent	SNP	G	G	A			TCGA-TQ-A7RF-01A-11D-A33T-08	TCGA-TQ-A7RF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f	91c432f5-7d2f-45c4-8e8d-bc36f4fc9180	g.chr16:30505561G>A	ENST00000356798.6	+	12	1422	c.1242G>A	c.(1240-1242)cgG>cgA	p.R414R	ITGAL_ENST00000568012.1_3'UTR|ITGAL_ENST00000358164.5_Silent_p.R331R|ITGAL_ENST00000433423.2_Intron	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	414					blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	integrin complex	cell adhesion molecule binding|receptor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Efalizumab(DB00095)	TGCCCTCCCGGCAAAAGACTT	0.617													6	157					0	0	1	0	0	A	30505561	G	A	30505561	2	1	476	1	0	0	0	0	0	0	0	1	7930	1190	42	2		2	ITGAL	16	30505561	Silent	SNP	G	TCGA-TQ-A7RF-01A-11D-A33T-08	28666859	30505561	59849192	38	36835											
SMG6	23293	broad.mit.edu	37	17	2202239	2202239	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RF-01A-11D-A33T-08	TCGA-TQ-A7RF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f	91c432f5-7d2f-45c4-8e8d-bc36f4fc9180	g.chr17:2202239C>T	ENST00000544865.1	-	2	2225	c.1715G>A	c.(1714-1716)cGc>cAc	p.R572H	SMG6_ENST00000263073.6_Missense_Mutation_p.R603H			Q86US8	EST1A_HUMAN	SMG6 nonsense mediated mRNA decay factor	603					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation|telomere maintenance	chromosome, telomeric region|cytosol|nucleolus|telomerase holoenzyme complex	endoribonuclease activity|metal ion binding|protein binding|telomeric DNA binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						CGGACTGATGCGGTCCCTGGA	0.582													6	479					0	0	1	0	0	T	2202239	C	T	2202239	3	4	476	1	0	0	0	0	1	0	0	0	14851	768	27	1	2523	1	SMG6	17	2202239	Missense_Mutation	SNP	C	TCGA-TQ-A7RF-01A-11D-A33T-08		2202239	78992971	39	36836											
TP53	7157	broad.mit.edu	37	17	7579361	7579361	+	Missense_Mutation	SNP	A	A	G			TCGA-TQ-A7RF-01A-11D-A33T-08	TCGA-TQ-A7RF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f	91c432f5-7d2f-45c4-8e8d-bc36f4fc9180	g.chr17:7579361A>G	ENST00000420246.2	-	4	458	c.326T>C	c.(325-327)tTc>tCc	p.F109S	TP53_ENST00000445888.2_Missense_Mutation_p.F109S|TP53_ENST00000413465.2_Missense_Mutation_p.F109S|TP53_ENST00000455263.2_Missense_Mutation_p.F109S|TP53_ENST00000359597.4_Missense_Mutation_p.F109S|TP53_ENST00000269305.4_Missense_Mutation_p.F109S	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	109	Interaction with HIPK1 (By similarity).|Interaction with WWOX.		F -> C (in sporadic cancers; somatic mutation).|F -> L (in a sporadic cancer; somatic mutation).|F -> 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.0?(8)|p.F109C(4)|p.F109S(4)|p.G59fs*23(3)|p.G108_F109delGF(2)|p.F109_R110delFR(2)|p.V73fs*9(1)|p.G105_T125del21(1)|p.Y107fs*44(1)|p.Y103_G112>C(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.Y107fs*38(1)|p.Y103_L111>L(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)		GCCCAGACGGAAACCGTAGCT	0.612		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)			118	14					0	0	1	0	0	G	7579361	A	G	7579361	3	3	476	1	0	0	0	0	1	0	0	0	16442	246	9	3	976	3	TP53	17	7579361	Missense_Mutation	SNP	A	TCGA-TQ-A7RF-01A-11D-A33T-08	5377122	7579361	73615849	40	36837											
GRB7	2886	broad.mit.edu	37	17	37902419	37902419	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RF-01A-11D-A33T-08	TCGA-TQ-A7RF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f	91c432f5-7d2f-45c4-8e8d-bc36f4fc9180	g.chr17:37902419C>T	ENST00000309185.3	+	13	1578	c.1328C>T	c.(1327-1329)gCc>gTc	p.A443V	GRB7_ENST00000309156.4_Silent_p.C472C|GRB7_ENST00000394209.2_Silent_p.C472C|GRB7_ENST00000445327.2_Silent_p.C495C|GRB7_ENST00000394211.3_Silent_p.C472C|GRB7_ENST00000394204.1_Missense_Mutation_p.A443V			Q14451	GRB7_HUMAN	growth factor receptor-bound protein 7	0	SH2.				blood coagulation|epidermal growth factor receptor signaling pathway|leukocyte migration|negative regulation of translation|positive regulation of cell migration|stress granule assembly	cytosol|focal adhesion|stress granule	phosphatidylinositol binding|protein kinase binding|SH3/SH2 adaptor activity	p.C472C(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;6.86e-60)|all cancers(3;1.65e-53)|BRCA - Breast invasive adenocarcinoma(8;2.03e-43)|STAD - Stomach adenocarcinoma(3;1.43e-12)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			TCTCTTTGTGCCACCTGCAGA	0.587													5	237					0	0	1	0	0	T	37902419	C	T	37902419	3	4	476	1	0	0	0	0	1	0	0	0	6800	747	26	2	1466	2	GRB7	17	37902419	Missense_Mutation	SNP	C	TCGA-TQ-A7RF-01A-11D-A33T-08	30323058	37902419	43292791	41	36838											
EPB41L3	23136	broad.mit.edu	37	18	5428387	5428387	+	Missense_Mutation	SNP	G	G	C			TCGA-TQ-A7RF-01A-11D-A33T-08	TCGA-TQ-A7RF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f	91c432f5-7d2f-45c4-8e8d-bc36f4fc9180	g.chr18:5428387G>C	ENST00000341928.2	-	9	1330	c.990C>G	c.(988-990)aaC>aaG	p.N330K	EPB41L3_ENST00000540638.2_Missense_Mutation_p.N330K|EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000342933.3_Missense_Mutation_p.N330K|EPB41L3_ENST00000400111.3_Missense_Mutation_p.N330K|EPB41L3_ENST00000544123.1_Missense_Mutation_p.N330K	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	330	FERM.				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						AGGCAAATCTGTTTATTCGCA	0.428													10	320					0	0	1	0	0	C	5428387	G	C	5428387	3	2	476	1	0	0	0	0	1	0	0	0	5182	1368	48	5	2329	5	EPB41L3	18	5428387	Missense_Mutation	SNP	G	TCGA-TQ-A7RF-01A-11D-A33T-08		5428387	72648861	42	36839											
PCSK4	54760	broad.mit.edu	37	19	1487226	1487226	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RF-01A-11D-A33T-08	TCGA-TQ-A7RF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f	91c432f5-7d2f-45c4-8e8d-bc36f4fc9180	g.chr19:1487226C>T	ENST00000300954.5	-	7	830	c.769G>A	c.(769-771)Gcc>Acc	p.A257T	PCSK4_ENST00000587784.1_5'UTR	NM_017573.3	NP_060043.2	Q6UW60	PCSK4_HUMAN	proprotein convertase subtilisin/kexin type 4	257	Catalytic (By similarity).				proteolysis	integral to membrane	serine-type endopeptidase activity			cervix(2)|endometrium(2)|kidney(1)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	15		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|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)		CCCCAGCTGGCGCTGTAAATG	0.682													25	17					0	0	1	0	0	T	1487226	C	T	1487226	3	4	476	1	0	0	0	0	1	0	0	0	11649	768	27	1	1534	1	PCSK4	19	1487226	Missense_Mutation	SNP	C	TCGA-TQ-A7RF-01A-11D-A33T-08		1487226	57641757	43	36840											
ZNF254	9534	broad.mit.edu	37	19	24309234	24309234	+	Silent	SNP	G	G	A			TCGA-TQ-A7RF-01A-11D-A33T-08	TCGA-TQ-A7RF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f	91c432f5-7d2f-45c4-8e8d-bc36f4fc9180	g.chr19:24309234G>A	ENST00000357002.4	+	4	547	c.432G>A	c.(430-432)caG>caA	p.Q144Q	ZNF254_ENST00000342944.6_Silent_p.Q59Q	NM_001278661.1|NM_001278662.1|NM_001278664.1|NM_001278677.1|NM_001278678.1|NM_203282.2	NP_001265590.1|NP_001265591.1|NP_001265593.1|NP_001265606.1|NP_001265607.1|NP_975011.3	O75437	ZN254_HUMAN	zinc finger protein 254	144					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)				GACTTAACCAGTGTTTCACAA	0.313													4	196					0	0	1	0	0	A	24309234	G	A	24309234	2	1	476	1	0	0	0	0	0	0	0	1	17856	1020	36	2		2	ZNF254	19	24309234	Silent	SNP	G	TCGA-TQ-A7RF-01A-11D-A33T-08	22822008	24309234	34819749	44	36841											
TPTE	7179	broad.mit.edu	37	21	10941931	10941931	+	Missense_Mutation	SNP	A	A	T			TCGA-TQ-A7RF-01A-11D-A33T-08	TCGA-TQ-A7RF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f	91c432f5-7d2f-45c4-8e8d-bc36f4fc9180	g.chr21:10941931A>T	ENST00000298232.7	-	13	1085	c.718T>A	c.(718-720)Tct>Act	p.S240T	TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000342420.5_Missense_Mutation_p.S220T|TPTE_ENST00000361285.4_Missense_Mutation_p.S258T	NM_199259.2	NP_954868	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	258	Phosphatase tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			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)		CTATAGAAAGACTGCCTTCCA	0.313													5	560					0	0	1	0	0	T	10941931	A	T	10941931	3	4	476	1	0	0	0	0	1	0	0	0	16491	275	10	5	927	5	TPTE	21	10941931	Missense_Mutation	SNP	A	TCGA-TQ-A7RF-01A-11D-A33T-08		10941931	37187964	45	36842											
EMID1	129080	broad.mit.edu	37	22	29629640	29629640	+	Silent	SNP	G	G	A			TCGA-TQ-A7RF-01A-11D-A33T-08	TCGA-TQ-A7RF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f	91c432f5-7d2f-45c4-8e8d-bc36f4fc9180	g.chr22:29629640G>A	ENST00000334018.6	+	10	1139	c.951G>A	c.(949-951)ggG>ggA	p.G317G	EMID1_ENST00000404755.3_Silent_p.G317G|EMID1_ENST00000404820.3_Silent_p.G317G|EMID1_ENST00000484039.1_3'UTR	NM_001267895.1|NM_133455.3	NP_001254824.1|NP_597712.2	Q96A84	EMID1_HUMAN	EMI domain containing 1	315	Collagen-like.					collagen				NS(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(2)|skin(3)	12						GTGTCCCTGGGAGTCCTGGTC	0.522													25	46					0	0	1	0	0	A	29629640	G	A	29629640	2	1	476	1	0	0	0	0	0	0	0	1	5119	1161	41	2		2	EMID1	22	29629640	Silent	SNP	G	TCGA-TQ-A7RF-01A-11D-A33T-08		29629640	21674926	46	36843											
CLCN4	1183	broad.mit.edu	37	X	10181805	10181805	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RF-01A-11D-A33T-08	TCGA-TQ-A7RF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f	91c432f5-7d2f-45c4-8e8d-bc36f4fc9180	g.chrX:10181805C>T	ENST00000380833.4	+	11	2052	c.1661C>T	c.(1660-1662)gCg>gTg	p.A554V	CLCN4_ENST00000421085.2_Missense_Mutation_p.A460V|CLCN4_ENST00000380829.1_Missense_Mutation_p.A523V	NM_001256944.1|NM_001830.3	NP_001243873.1|NP_001821.2	P51793	CLCN4_HUMAN	chloride channel, voltage-sensitive 4	554						early endosome membrane|integral to membrane|late endosome membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						CCCCTGATGGCGGCGGCTGTG	0.537													75	127					0	0	1	0	0	T	10181805	C	T	10181805	3	4	476	1	0	0	0	0	1	0	0	0	3488	768	27	1	1695	1	CLCN4	23	10181805	Missense_Mutation	SNP	C	TCGA-TQ-A7RF-01A-11D-A33T-08		10181805	145088755	47	36844											
MCF2	4168	broad.mit.edu	37	X	138697040	138697040	+	Splice_Site	SNP	C	C	A			TCGA-TQ-A7RF-01A-11D-A33T-08	TCGA-TQ-A7RF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f	91c432f5-7d2f-45c4-8e8d-bc36f4fc9180	g.chrX:138697040C>A	ENST00000520602.1	-	13	1828	c.1543G>T	c.(1543-1545)Ggg>Tgg	p.G515W	MCF2_ENST00000370578.4_Splice_Site_p.G600W|MCF2_ENST00000414978.1_Splice_Site_p.G515W|MCF2_ENST00000536274.1_Splice_Site_p.G416W|MCF2_ENST00000338585.6_Splice_Site_p.V455L|MCF2_ENST00000370573.4_Splice_Site_p.G455W|MCF2_ENST00000483690.1_5'UTR|MCF2_ENST00000370576.4_Splice_Site_p.G455W|MCF2_ENST00000519895.1_Splice_Site_p.V515L			P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence	455	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|membrane|membrane fraction	protein binding|Rho guanyl-nucleotide exchange factor activity			NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62	Acute lymphoblastic leukemia(192;0.000127)					GACATTTTACCTTGTTTAGAT	0.363													5	277					0.184627	0.191341	1	1	0	A	138697040	C	A	138697040	5	1	476	1	0	0	0	0	0	0	1	0	9428	695	24	4	1558	4	MCF2	23	138697040	Splice_Site	SNP	C	TCGA-TQ-A7RF-01A-11D-A33T-08	128515235	138697040	16573520	48	36845											
RGS4	5999	broad.mit.edu	37	1	163044271	163044271	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RG-01A-11D-A33T-08	TCGA-TQ-A7RG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7ef8640-7181-4ac4-baa3-549e613bda9c	0403a5cd-541a-466c-a7f4-ee68bfd60a19	g.chr1:163044271C>T	ENST00000421743.2	+	6	990	c.830C>T	c.(829-831)cCg>cTg	p.P277L	RGS4_ENST00000531057.1_Intron|RGS4_ENST00000367908.4_3'UTR|RGS4_ENST00000367909.6_Missense_Mutation_p.P180L|RGS4_ENST00000491263.1_3'UTR|RGS4_ENST00000527809.1_Missense_Mutation_p.P162L|RGS4_ENST00000367906.3_Missense_Mutation_p.P162L	NM_001102445.2|NM_001113380.1	NP_001095915.1|NP_001106851.1	P49798	RGS4_HUMAN	regulator of G-protein signaling 4	180					inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	plasma membrane	calmodulin binding|GTPase activator activity|signal transducer activity	p.P180Q(1)|p.P277Q(1)		breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|upper_aerodigestive_tract(2)	21						TTGGTCAACCCGTCCAGCTGT	0.517													41	318					0	0	1	0	0	T	163044271	C	T	163044271	3	4	477	1	0	0	0	0	1	0	0	0	13357	652	23	1	852	1	RGS4	1	163044271	Missense_Mutation	SNP	C	TCGA-TQ-A7RG-01A-11D-A33T-08		163044271	86206350	1	36846											
OTX1	5013	broad.mit.edu	37	2	63283169	63283169	+	Silent	SNP	G	G	A			TCGA-TQ-A7RG-01A-11D-A33T-08	TCGA-TQ-A7RG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7ef8640-7181-4ac4-baa3-549e613bda9c	0403a5cd-541a-466c-a7f4-ee68bfd60a19	g.chr2:63283169G>A	ENST00000366671.3	+	5	1059	c.783G>A	c.(781-783)ccG>ccA	p.P261P	OTX1_ENST00000282549.2_Silent_p.P261P	NM_001199770.1	NP_001186699.1	P32242	OTX1_HUMAN	orthodenticle homeobox 1	261						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Lung NSC(7;0.121)|all_lung(7;0.211)					ATCACCACCCGCACCAGCTCA	0.652													4	249					0	0	1	0	0	A	63283169	G	A	63283169	2	1	477	1	0	0	0	0	0	0	0	1	11367	1074	38	1		1	OTX1	2	63283169	Silent	SNP	G	TCGA-TQ-A7RG-01A-11D-A33T-08		63283169	179916204	2	36847											
PROKR1	10887	broad.mit.edu	37	2	68873329	68873329	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RG-01A-11D-A33T-08	TCGA-TQ-A7RG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7ef8640-7181-4ac4-baa3-549e613bda9c	0403a5cd-541a-466c-a7f4-ee68bfd60a19	g.chr2:68873329C>T	ENST00000303786.3	+	2	796	c.376C>T	c.(376-378)Cgc>Tgc	p.R126C	PROKR1_ENST00000394342.2_Missense_Mutation_p.R126C			Q8TCW9	PKR1_HUMAN	prokineticin receptor 1	126						integral to membrane|plasma membrane	neuropeptide Y receptor activity			endometrium(3)|kidney(2)|large_intestine(14)|lung(9)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						CTATGTGGTGCGCCAGCTCTC	0.592													21	272					0	0	1	0	0	T	68873329	C	T	68873329	3	4	477	1	0	0	0	0	1	0	0	0	12604	768	27	1	378	1	PROKR1	2	68873329	Missense_Mutation	SNP	C	TCGA-TQ-A7RG-01A-11D-A33T-08	5590160	68873329	174326044	3	36848											
CIR1	9541	broad.mit.edu	37	2	175216364	175216364	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RG-01A-11D-A33T-08	TCGA-TQ-A7RG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7ef8640-7181-4ac4-baa3-549e613bda9c	0403a5cd-541a-466c-a7f4-ee68bfd60a19	g.chr2:175216364C>T	ENST00000342016.3	-	8	666	c.574G>A	c.(574-576)Gca>Aca	p.A192T	CIR1_ENST00000362053.5_Missense_Mutation_p.R201H	NM_004882.3	NP_004873.3	Q86X95	CIR1_HUMAN	corepressor interacting with RBPJ, 1	192					mRNA processing|negative regulation of transcription, DNA-dependent|RNA splicing	nuclear speck	protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(5)|skin(1)	15						GGATCATTTGCGGTCAAGTTT	0.403													4	247					0	0	1	0	0	T	175216364	C	T	175216364	3	4	477	1	0	0	0	0	1	0	0	0	3454	768	27	1	790	1	CIR1	2	175216364	Missense_Mutation	SNP	C	TCGA-TQ-A7RG-01A-11D-A33T-08	106343035	175216364	67983009	4	36849											
ALS2	57679	broad.mit.edu	37	2	202626336	202626336	+	Silent	SNP	G	G	A			TCGA-TQ-A7RG-01A-11D-A33T-08	TCGA-TQ-A7RG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7ef8640-7181-4ac4-baa3-549e613bda9c	0403a5cd-541a-466c-a7f4-ee68bfd60a19	g.chr2:202626336G>A	ENST00000264276.6	-	4	753	c.381C>T	c.(379-381)aaC>aaT	p.N127N	ALS2_ENST00000467448.1_Silent_p.N127N|ALS2_ENST00000496244.1_5'UTR	NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	127					cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size	centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle	protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						CATACTGCTGGTTGGCTACTG	0.527													59	88					0	0	1	0	0	A	202626336	G	A	202626336	2	1	477	1	0	0	0	0	0	0	0	1	546	1252	44	2		2	ALS2	2	202626336	Silent	SNP	G	TCGA-TQ-A7RG-01A-11D-A33T-08	27409972	202626336	40573037	5	36850											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-TQ-A7RG-01A-11D-A33T-08	TCGA-TQ-A7RG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7ef8640-7181-4ac4-baa3-549e613bda9c	0403a5cd-541a-466c-a7f4-ee68bfd60a19	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	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								71	111					0	0	1	0	0	T	209113112	C	T	209113112	3	4	477	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-TQ-A7RG-01A-11D-A33T-08	6486776	209113112	34086261	6	36851											
FGD5	152273	broad.mit.edu	37	3	14949183	14949183	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RG-01A-11D-A33T-08	TCGA-TQ-A7RG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7ef8640-7181-4ac4-baa3-549e613bda9c	0403a5cd-541a-466c-a7f4-ee68bfd60a19	g.chr3:14949183G>A	ENST00000285046.5	+	10	3411	c.3301G>A	c.(3301-3303)Gtc>Atc	p.V1101I	FGD5_ENST00000543601.1_Missense_Mutation_p.V860I|FGD5_ENST00000476851.1_3'UTR	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	1101					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						TGAGCACAGCGTCCGGGGCCA	0.627													18	98					0	0	1	0	0	A	14949183	G	A	14949183	3	1	477	1	0	0	0	0	1	0	0	0	5869	1145	40	1	3339	1	FGD5	3	14949183	Missense_Mutation	SNP	G	TCGA-TQ-A7RG-01A-11D-A33T-08		14949183	183073247	7	36852											
STAB1	23166	broad.mit.edu	37	3	52538884	52538884	+	Nonsense_Mutation	SNP	C	C	T			TCGA-TQ-A7RG-01A-11D-A33T-08	TCGA-TQ-A7RG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7ef8640-7181-4ac4-baa3-549e613bda9c	0403a5cd-541a-466c-a7f4-ee68bfd60a19	g.chr3:52538884C>T	ENST00000321725.6	+	12	1445	c.1369C>T	c.(1369-1371)Caa>Taa	p.Q457*		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	457	FAS1 1.				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		CACCTTTAACCAATTCACGGT	0.622													45	56					0	0	1	0	0	T	52538884	C	T	52538884	4	4	477	1	0	0	0	0	0	1	0	0	15293	595	21	2	1415	2	STAB1	3	52538884	Nonsense_Mutation	SNP	C	TCGA-TQ-A7RG-01A-11D-A33T-08	37589701	52538884	145483546	8	36853											
TRIM42	287015	broad.mit.edu	37	3	140406741	140406741	+	Missense_Mutation	SNP	A	A	G			TCGA-TQ-A7RG-01A-11D-A33T-08	TCGA-TQ-A7RG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7ef8640-7181-4ac4-baa3-549e613bda9c	0403a5cd-541a-466c-a7f4-ee68bfd60a19	g.chr3:140406741A>G	ENST00000286349.3	+	3	1408	c.1217A>G	c.(1216-1218)cAg>cGg	p.Q406R		NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN	tripartite motif containing 42	406						intracellular	zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						GTGTCCAGGCAGAAGGAAATT	0.443													4	135					0	0	1	0	0	G	140406741	A	G	140406741	3	3	477	1	0	0	0	0	1	0	0	0	16578	188	7	3	1227	3	TRIM42	3	140406741	Missense_Mutation	SNP	A	TCGA-TQ-A7RG-01A-11D-A33T-08	87867857	140406741	57615689	9	36854											
SEL1L3	23231	broad.mit.edu	37	4	25849364	25849364	+	Translation_Start_Site	SNP	G	G	A			TCGA-TQ-A7RG-01A-11D-A33T-08	TCGA-TQ-A7RG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7ef8640-7181-4ac4-baa3-549e613bda9c	0403a5cd-541a-466c-a7f4-ee68bfd60a19	g.chr4:25849364G>A	ENST00000502949.1	-	0	226				SEL1L3_ENST00000513364.1_Intron|SEL1L3_ENST00000264868.5_Silent_p.N60N|SEL1L3_ENST00000399878.3_Silent_p.N95N			Q68CR1	SE1L3_HUMAN	sel-1 suppressor of lin-12-like 3 (C. elegans)							integral to membrane	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						CTTCAGAAACGTTGCGAACGT	0.433													6	169					0	0	1	0	0	A	25849364	G	A	25849364	1	1	477	1	0	0	0	0	0	0	0	0	14066	1136	40	1		1	SEL1L3	4	25849364	Translation_Start_Site	SNP	G	TCGA-TQ-A7RG-01A-11D-A33T-08		25849364	165304912	10	36855											
SHROOM3	57619	broad.mit.edu	37	4	77692035	77692035	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RG-01A-11D-A33T-08	TCGA-TQ-A7RG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7ef8640-7181-4ac4-baa3-549e613bda9c	0403a5cd-541a-466c-a7f4-ee68bfd60a19	g.chr4:77692035C>T	ENST00000296043.6	+	10	6559	c.5606C>T	c.(5605-5607)gCc>gTc	p.A1869V	RP11-359D14.3_ENST00000449007.1_RNA	NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	1869	ASD2.				apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			GGTGAAGATGCCAGTAATGAA	0.517													4	221					0	0	1	0	0	T	77692035	C	T	77692035	3	4	477	1	0	0	0	0	1	0	0	0	14350	739	26	2	5644	2	SHROOM3	4	77692035	Missense_Mutation	SNP	C	TCGA-TQ-A7RG-01A-11D-A33T-08	51842671	77692035	113462241	11	36856											
ANKH	56172	broad.mit.edu	37	5	14749298	14749298	+	Missense_Mutation	SNP	T	T	A			TCGA-TQ-A7RG-01A-11D-A33T-08	TCGA-TQ-A7RG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7ef8640-7181-4ac4-baa3-549e613bda9c	0403a5cd-541a-466c-a7f4-ee68bfd60a19	g.chr5:14749298T>A	ENST00000284268.6	-	6	1135	c.805A>T	c.(805-807)Agt>Tgt	p.S269C	ANKH_ENST00000503939.1_5'UTR|ANKH_ENST00000535119.1_Missense_Mutation_p.S71C	NM_054027.4	NP_473368.1	Q9HCJ1	ANKH_HUMAN	ANKH inorganic pyrophosphate transport regulator	269					locomotory behavior|regulation of bone mineralization|skeletal system development	integral to plasma membrane|outer membrane	inorganic diphosphate transmembrane transporter activity|inorganic phosphate transmembrane transporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						GCTGCAGAACTGCCACCAAGG	0.542													4	145					0	0	1	0	0	A	14749298	T	A	14749298	3	1	477	1	0	0	0	0	1	0	0	0	623	1580	55	5	701	5	ANKH	5	14749298	Missense_Mutation	SNP	T	TCGA-TQ-A7RG-01A-11D-A33T-08		14749298	166165962	12	36857											
NIPBL	25836	broad.mit.edu	37	5	36976456	36976456	+	Nonsense_Mutation	SNP	G	G	T			TCGA-TQ-A7RG-01A-11D-A33T-08	TCGA-TQ-A7RG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7ef8640-7181-4ac4-baa3-549e613bda9c	0403a5cd-541a-466c-a7f4-ee68bfd60a19	g.chr5:36976456G>T	ENST00000282516.8	+	9	1946	c.1447G>T	c.(1447-1449)Gaa>Taa	p.E483*	NIPBL_ENST00000504430.1_3'UTR|NIPBL_ENST00000448238.2_Nonsense_Mutation_p.E483*	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	483					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			AATAGAGAGAGAATCAGCTAT	0.363													17	165					1.33834e-09	1.39259e-09	1	1	0	T	36976456	G	T	36976456	4	4	477	1	0	0	0	0	0	1	0	0	10475	943	33	4	1477	4	NIPBL	5	36976456	Nonsense_Mutation	SNP	G	TCGA-TQ-A7RG-01A-11D-A33T-08	22227158	36976456	143938804	13	36858											
GLRX	2745	broad.mit.edu	37	5	95158225	95158225	+	Missense_Mutation	SNP	T	T	C	rs150319338		TCGA-TQ-A7RG-01A-11D-A33T-08	TCGA-TQ-A7RG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7ef8640-7181-4ac4-baa3-549e613bda9c	0403a5cd-541a-466c-a7f4-ee68bfd60a19	g.chr5:95158225T>C	ENST00000379979.4	-	1	193	c.142A>G	c.(142-144)Atc>Gtc	p.I48V	GLRX_ENST00000505427.1_Missense_Mutation_p.I48V|GLRX_ENST00000512469.2_Missense_Mutation_p.I48V|GLRX_ENST00000237858.6_Missense_Mutation_p.I48V|GLRX_ENST00000508780.1_Missense_Mutation_p.I48V	NM_002064.2	NP_002055.1	P35754	GLRX1_HUMAN	glutaredoxin (thioltransferase)	48	Glutaredoxin.				cell redox homeostasis|electron transport chain|nucleobase, nucleoside and nucleotide interconversion|transport	cytosol	electron carrier activity|glutathione disulfide oxidoreductase activity|protein disulfide oxidoreductase activity|protein N-terminus binding			endometrium(3)|large_intestine(1)|lung(1)	5		all_cancers(142;3.38e-06)|all_epithelial(76;5.66e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0164)|Colorectal(57;0.0846)|Breast(839;0.198)		all cancers(79;2.62e-16)	Glutathione(DB00143)	GTGGCTGTGATATCGACAAAT	0.498													6	301					0	0	1	0	0	C	95158225	T	C	95158225	3	2	477	1	0	0	0	0	1	0	0	0	6501	1406	49	3	186	3	GLRX	5	95158225	Missense_Mutation	SNP	T	TCGA-TQ-A7RG-01A-11D-A33T-08	58181769	95158225	85757035	14	36859											
PCDHA1	56147	broad.mit.edu	37	5	140166994	140166994	+	Silent	SNP	C	C	T			TCGA-TQ-A7RG-01A-11D-A33T-08	TCGA-TQ-A7RG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7ef8640-7181-4ac4-baa3-549e613bda9c	0403a5cd-541a-466c-a7f4-ee68bfd60a19	g.chr5:140166994C>T	ENST00000504120.2	+	1	1119	c.1119C>T	c.(1117-1119)acC>acT	p.T373T	PCDHA1_ENST00000394633.3_Silent_p.T373T|PCDHA1_ENST00000378133.3_Silent_p.T373T	NM_018900.2	NP_061723.1														breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCTCATCACCGTGTCTGACC	0.527													32	157					0	0	1	0	0	T	140166994	C	T	140166994	2	4	477	1	0	0	0	0	0	0	0	1	11566	639	23	1		1	PCDHA1	5	140166994	Silent	SNP	C	TCGA-TQ-A7RG-01A-11D-A33T-08	45008769	140166994	40748266	15	36860											
ARAP3	64411	broad.mit.edu	37	5	141051740	141051740	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RG-01A-11D-A33T-08	TCGA-TQ-A7RG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7ef8640-7181-4ac4-baa3-549e613bda9c	0403a5cd-541a-466c-a7f4-ee68bfd60a19	g.chr5:141051740G>A	ENST00000239440.4	-	10	1579	c.1514C>T	c.(1513-1515)gCg>gTg	p.A505V	ARAP3_ENST00000513878.1_Missense_Mutation_p.A167V|ARAP3_ENST00000508305.1_Missense_Mutation_p.A427V	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	505	Arf-GAP.				cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						CCCACAGTCCGCACACTGCCG	0.612													5	458					0	0	1	0	0	A	141051740	G	A	141051740	3	1	477	1	0	0	0	0	1	0	0	0	837	1087	38	1	3216	1	ARAP3	5	141051740	Missense_Mutation	SNP	G	TCGA-TQ-A7RG-01A-11D-A33T-08	884746	141051740	39863520	16	36861											
BMP6	654	broad.mit.edu	37	6	7845400	7845400	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RG-01A-11D-A33T-08	TCGA-TQ-A7RG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7ef8640-7181-4ac4-baa3-549e613bda9c	0403a5cd-541a-466c-a7f4-ee68bfd60a19	g.chr6:7845400G>A	ENST00000283147.6	+	2	851	c.692G>A	c.(691-693)cGt>cAt	p.R231H		NM_001718.4	NP_001709.1	P22004	BMP6_HUMAN	bone morphogenetic protein 6	231					BMP signaling pathway|cartilage development|growth|immune response|positive regulation of aldosterone biosynthetic process|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription from RNA polymerase II promoter|SMAD protein signal transduction	extracellular space	BMP receptor binding|cytokine activity|growth factor activity|protein heterodimerization activity	p.R231H(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	23	Ovarian(93;0.0721)					TTCTCCCCTCGTCAGCGACAC	0.468													20	187					0	0	1	0	0	A	7845400	G	A	7845400	3	1	477	1	0	0	0	0	1	0	0	0	1463	1145	40	1	698	1	BMP6	6	7845400	Missense_Mutation	SNP	G	TCGA-TQ-A7RG-01A-11D-A33T-08		7845400	163269667	17	36862											
MICB	4277	broad.mit.edu	37	6	31474146	31474146	+	Silent	SNP	G	G	A			TCGA-TQ-A7RG-01A-11D-A33T-08	TCGA-TQ-A7RG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7ef8640-7181-4ac4-baa3-549e613bda9c	0403a5cd-541a-466c-a7f4-ee68bfd60a19	g.chr6:31474146G>A	ENST00000252229.6	+	3	631	c.552G>A	c.(550-552)caG>caA	p.Q184Q	MICB_ENST00000399150.3_Silent_p.Q141Q|MICB_ENST00000538442.1_Silent_p.Q152Q	NM_005931.3	NP_005922.2	Q29980	MICB_HUMAN	MHC class I polypeptide-related sequence B	184					antigen processing and presentation|cytolysis|gamma-delta T cell activation|immune response|immune response-activating cell surface receptor signaling pathway|interspecies interaction between organisms|negative regulation of defense response to virus by host|response to heat|response to oxidative stress|response to retinoic acid	integral to plasma membrane|MHC class I protein complex	natural killer cell lectin-like receptor binding			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)	13						GCGCTATGCAGGCAGACTGCC	0.542													46	59					0	0	1	0	0	A	31474146	G	A	31474146	2	1	477	1	0	0	0	0	0	0	0	1	9623	991	35	2		2	MICB	6	31474146	Silent	SNP	G	TCGA-TQ-A7RG-01A-11D-A33T-08	23628746	31474146	139640921	18	36863											
DPPA5	340168	broad.mit.edu	37	6	74063933	74063933	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RG-01A-11D-A33T-08	TCGA-TQ-A7RG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7ef8640-7181-4ac4-baa3-549e613bda9c	0403a5cd-541a-466c-a7f4-ee68bfd60a19	g.chr6:74063933C>T	ENST00000370370.3	-	1	85	c.16G>A	c.(16-18)Gca>Aca	p.A6T		NM_001025290.2	NP_001020461.1	A6NC42	DPPA5_HUMAN	developmental pluripotency associated 5	6					multicellular organismal development	cytoplasm	RNA binding			NS(1)|endometrium(1)|lung(5)	7						TGTCTACGTGCCGGGAGAGTT	0.577													42	52					0	0	1	0	0	T	74063933	C	T	74063933	3	4	477	1	0	0	0	0	1	0	0	0	4763	739	26	2	346	2	DPPA5	6	74063933	Missense_Mutation	SNP	C	TCGA-TQ-A7RG-01A-11D-A33T-08	42589787	74063933	97051134	19	36864											
TULP4	56995	broad.mit.edu	37	6	158900996	158900996	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RG-01A-11D-A33T-08	TCGA-TQ-A7RG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7ef8640-7181-4ac4-baa3-549e613bda9c	0403a5cd-541a-466c-a7f4-ee68bfd60a19	g.chr6:158900996C>T	ENST00000367097.3	+	7	2597	c.1240C>T	c.(1240-1242)Ccc>Tcc	p.P414S	TULP4_ENST00000367094.2_Missense_Mutation_p.P414S	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN	tubby like protein 4	414	SOCS box.				intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity			endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		TGCCTTCATCCCCACCATCAA	0.637													38	63					0	0	1	0	0	T	158900996	C	T	158900996	3	4	477	1	0	0	0	0	1	0	0	0	16838	623	22	2	1266	2	TULP4	6	158900996	Missense_Mutation	SNP	C	TCGA-TQ-A7RG-01A-11D-A33T-08	84837063	158900996	12214071	20	36865											
MFHAS1	9258	broad.mit.edu	37	8	8750064	8750064	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RG-01A-11D-A33T-08	TCGA-TQ-A7RG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7ef8640-7181-4ac4-baa3-549e613bda9c	0403a5cd-541a-466c-a7f4-ee68bfd60a19	g.chr8:8750064G>A	ENST00000276282.6	-	1	1091	c.505C>T	c.(505-507)Cgg>Tgg	p.R169W		NM_004225.2	NP_004216.2	Q9Y4C4	MFHA1_HUMAN	malignant fibrous histiocytoma amplified sequence 1	169										endometrium(1)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|stomach(1)	21		Hepatocellular(245;0.217)		COAD - Colon adenocarcinoma(149;0.124)		TGCGCCAGCCGGTTAAAGCTG	0.677													6	24					0	0	1	0	0	A	8750064	G	A	8750064	3	1	477	1	0	0	0	0	1	0	0	0	9571	1115	39	1	2665	1	MFHAS1	8	8750064	Missense_Mutation	SNP	G	TCGA-TQ-A7RG-01A-11D-A33T-08		8750064	137613958	21	36866											
CPNE3	8895	broad.mit.edu	37	8	87568561	87568561	+	Nonsense_Mutation	SNP	C	C	T			TCGA-TQ-A7RG-01A-11D-A33T-08	TCGA-TQ-A7RG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7ef8640-7181-4ac4-baa3-549e613bda9c	0403a5cd-541a-466c-a7f4-ee68bfd60a19	g.chr8:87568561C>T	ENST00000521271.1	+	16	1648	c.1486C>T	c.(1486-1488)Cag>Tag	p.Q496*	CPNE3_ENST00000198765.4_Nonsense_Mutation_p.Q496*	NM_003909.3	NP_003900.1	O75131	CPNE3_HUMAN	copine III	496	VWFA.				lipid metabolic process|vesicle-mediated transport	cytosol	calcium-dependent phospholipid binding|protein serine/threonine kinase activity|transporter activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	23						CAGACAGTTCCAGAATGTGAG	0.502													13	102					0	0	1	0	0	T	87568561	C	T	87568561	4	4	477	1	0	0	0	0	0	1	0	0	3836	595	21	2	1540	2	CPNE3	8	87568561	Nonsense_Mutation	SNP	C	TCGA-TQ-A7RG-01A-11D-A33T-08	78818497	87568561	58795461	22	36867											
FAM189A2	9413	broad.mit.edu	37	9	72003231	72003231	+	Frame_Shift_Del	DEL	G	G	-			TCGA-TQ-A7RG-01A-11D-A33T-08	TCGA-TQ-A7RG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7ef8640-7181-4ac4-baa3-549e613bda9c	0403a5cd-541a-466c-a7f4-ee68bfd60a19	g.chr9:72003231delG	ENST00000257515.8	+	10	1434	c.1014delG	c.(1012-1014)gtgfs	p.V338fs	FAM189A2_ENST00000303068.7_Frame_Shift_Del_p.V173fs|FAM189A2_ENST00000455972.1_Frame_Shift_Del_p.V338fs|FAM189A2_ENST00000469179.1_3'UTR|FAM189A2_ENST00000377216.3_Frame_Shift_Del_p.V125fs	NM_004816.3	NP_004807.3	Q15884	F1892_HUMAN	family with sequence similarity 189, member A2	338						integral to membrane				endometrium(3)|large_intestine(5)|liver(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	12						AGCTGCTGGTGGCGAGGTTCC	0.483													11	172	---	---	---	---						-	72003231	G	-	72003231	7	5	477	1	0	1	0	1	0	0	0	0	5548	1335	47	0	1048	0	FAM189A2	9	72003231	Frame_Shift_Del	DEL	G	TCGA-TQ-A7RG-01A-11D-A33T-08		72003231	69210200	23	36868											
GABBR2	9568	broad.mit.edu	37	9	101068571	101068571	+	Silent	SNP	G	G	A			TCGA-TQ-A7RG-01A-11D-A33T-08	TCGA-TQ-A7RG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7ef8640-7181-4ac4-baa3-549e613bda9c	0403a5cd-541a-466c-a7f4-ee68bfd60a19	g.chr9:101068571G>A	ENST00000259455.2	-	15	2520	c.2061C>T	c.(2059-2061)aaC>aaT	p.N687N		NM_005458.7	NP_005449.5	O75899	GABR2_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 2	687					negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity		NOTCH1_ENST00000277541/GABBR2(2)	breast(4)|endometrium(4)|large_intestine(12)|lung(21)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	49		Acute lymphoblastic leukemia(62;0.0527)			Baclofen(DB00181)	ACTTGCTGTCGTTGAGTGCGG	0.547													24	38					0	0	1	0	0	A	101068571	G	A	101068571	2	1	477	1	0	0	0	0	0	0	0	1	6191	1136	40	1		1	GABBR2	9	101068571	Silent	SNP	G	TCGA-TQ-A7RG-01A-11D-A33T-08	29065340	101068571	40144860	24	36869											
ACBD5	91452	broad.mit.edu	37	10	27529418	27529418	+	Missense_Mutation	SNP	A	A	C			TCGA-TQ-A7RG-01A-11D-A33T-08	TCGA-TQ-A7RG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7ef8640-7181-4ac4-baa3-549e613bda9c	0403a5cd-541a-466c-a7f4-ee68bfd60a19	g.chr10:27529418A>C	ENST00000375888.1	-	1	69	c.5T>G	c.(4-6)tTc>tGc	p.F2C	ACBD5_ENST00000476758.1_5'UTR|ACBD5_ENST00000375905.4_Intron|ACBD5_ENST00000375901.1_Intron|ACBD5_ENST00000396271.3_Intron|ACBD5_ENST00000375897.3_5'UTR			Q5T8D3	ACBD5_HUMAN	acyl-CoA binding domain containing 5	2					transport	integral to membrane|peroxisomal membrane	fatty-acyl-CoA binding			breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						ATGAAACTGGAACATGGAGCG	0.632													9	13					0	0	1	0	0	C	27529418	A	C	27529418	3	2	477	1	0	0	0	0	1	0	0	0	125	261	9	5		5	ACBD5	10	27529418	Missense_Mutation	SNP	A	TCGA-TQ-A7RG-01A-11D-A33T-08		27529418	108005329	25	36870											
NHLRC2	374354	broad.mit.edu	37	10	115639379	115639379	+	Silent	SNP	T	T	C			TCGA-TQ-A7RG-01A-11D-A33T-08	TCGA-TQ-A7RG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7ef8640-7181-4ac4-baa3-549e613bda9c	0403a5cd-541a-466c-a7f4-ee68bfd60a19	g.chr10:115639379T>C	ENST00000369301.3	+	4	1046	c.834T>C	c.(832-834)ttT>ttC	p.F278F		NM_198514.3	NP_940916.2	Q8NBF2	NHLC2_HUMAN	NHL repeat containing 2	278					cell redox homeostasis					breast(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	15				Epithelial(162;0.017)|all cancers(201;0.0187)		AATCAACTTTTAATTCTCCAC	0.308													14	207					0	0	1	0	0	C	115639379	T	C	115639379	2	2	477	1	0	0	0	0	0	0	0	1	10453	1751	61	3		3	NHLRC2	10	115639379	Silent	SNP	T	TCGA-TQ-A7RG-01A-11D-A33T-08	88109961	115639379	19895368	26	36871											
LIN7C	55327	broad.mit.edu	37	11	27520303	27520303	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RG-01A-11D-A33T-08	TCGA-TQ-A7RG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7ef8640-7181-4ac4-baa3-549e613bda9c	0403a5cd-541a-466c-a7f4-ee68bfd60a19	g.chr11:27520303C>T	ENST00000278193.2	-	5	507	c.487G>A	c.(487-489)Gca>Aca	p.A163T	LIN7C_ENST00000524596.1_Missense_Mutation_p.A139T	NM_018362.3	NP_060832.1	Q9NUP9	LIN7C_HUMAN	lin-7 homolog C (C. elegans)	163	PDZ.				exocytosis|protein transport	basolateral plasma membrane|postsynaptic density|postsynaptic membrane|synaptosome|tight junction				endometrium(2)|lung(2)|upper_aerodigestive_tract(1)	5						TTTCCTTGTGCGGCTTTCAGC	0.388													6	213					0	0	1	0	0	T	27520303	C	T	27520303	3	4	477	1	0	0	0	0	1	0	0	0	8853	768	27	1	110	1	LIN7C	11	27520303	Missense_Mutation	SNP	C	TCGA-TQ-A7RG-01A-11D-A33T-08		27520303	107486213	27	36872											
KBTBD4	55709	broad.mit.edu	37	11	47597155	47597155	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RG-01A-11D-A33T-08	TCGA-TQ-A7RG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7ef8640-7181-4ac4-baa3-549e613bda9c	0403a5cd-541a-466c-a7f4-ee68bfd60a19	g.chr11:47597155G>A	ENST00000533290.1	-	2	1475	c.761C>T	c.(760-762)aCa>aTa	p.T254I	KBTBD4_ENST00000525720.1_Missense_Mutation_p.T278I|NDUFS3_ENST00000533507.1_Intron|KBTBD4_ENST00000430070.2_Missense_Mutation_p.T245I|KBTBD4_ENST00000395288.2_Missense_Mutation_p.T229I|KBTBD4_ENST00000526005.1_Missense_Mutation_p.T229I			Q9NVX7	KBTB4_HUMAN	kelch repeat and BTB (POZ) domain containing 4	229				A -> G (in Ref. 1; BAA91616).						NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	24						CTTCAAGCTTGTCCTGAGTGA	0.403													5	145					0	0	1	0	0	A	47597155	G	A	47597155	3	1	477	1	0	0	0	0	1	0	0	0	8039	1377	48	2	878	2	KBTBD4	11	47597155	Missense_Mutation	SNP	G	TCGA-TQ-A7RG-01A-11D-A33T-08	20076852	47597155	87409361	28	36873											
OR4P4	81300	broad.mit.edu	37	11	55406642	55406642	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RG-01A-11D-A33T-08	TCGA-TQ-A7RG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7ef8640-7181-4ac4-baa3-549e613bda9c	0403a5cd-541a-466c-a7f4-ee68bfd60a19	g.chr11:55406642C>T	ENST00000314612.2	+	1	809	c.809C>T	c.(808-810)gCc>gTc	p.A270V		NM_001004124.1	NP_001004124.1	Q8NGL7	OR4P4_HUMAN	olfactory receptor, family 4, subfamily P, member 4	270					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1)	40						AAAGTGTTTGCCCTTTTTTAT	0.403													18	228					0	0	1	0	0	T	55406642	C	T	55406642	3	4	477	1	0	0	0	0	1	0	0	0	11128	739	26	2	811	2	OR4P4	11	55406642	Missense_Mutation	SNP	C	TCGA-TQ-A7RG-01A-11D-A33T-08	7809487	55406642	79599874	29	36874											
GIF	2694	broad.mit.edu	37	11	59603468	59603468	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RG-01A-11D-A33T-08	TCGA-TQ-A7RG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7ef8640-7181-4ac4-baa3-549e613bda9c	0403a5cd-541a-466c-a7f4-ee68bfd60a19	g.chr11:59603468G>A	ENST00000541311.1	-	7	1045	c.811C>T	c.(811-813)Cca>Tca	p.P271S	GIF_ENST00000257248.2_Missense_Mutation_p.P296S			P27352	IF_HUMAN	gastric intrinsic factor (vitamin B synthesis)	296					cobalamin metabolic process|cobalamin transport|cobalt ion transport	apical plasma membrane|endosome|extracellular space|microvillus	cobalamin binding			large_intestine(4)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	17						GGTAGAGTTGGTTGTACCTCA	0.478													6	253					0	0	1	0	0	A	59603468	G	A	59603468	3	1	477	1	0	0	0	0	1	0	0	0	6418	1261	44	2	379	2	GIF	11	59603468	Missense_Mutation	SNP	G	TCGA-TQ-A7RG-01A-11D-A33T-08	4196826	59603468	75403048	30	36875											
SLC3A2	6520	broad.mit.edu	37	11	62623842	62623842	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RG-01A-11D-A33T-08	TCGA-TQ-A7RG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7ef8640-7181-4ac4-baa3-549e613bda9c	0403a5cd-541a-466c-a7f4-ee68bfd60a19	g.chr11:62623842G>A	ENST00000377892.1	+	1	325	c.101G>A	c.(100-102)gGg>gAg	p.G34E	SLC3A2_ENST00000377891.2_Missense_Mutation_p.G34E|SLC3A2_ENST00000535296.1_Missense_Mutation_p.G34E|SLC3A2_ENST00000377890.2_Missense_Mutation_p.G34E|SLC3A2_ENST00000377889.2_Missense_Mutation_p.G34E			P08195	4F2_HUMAN	solute carrier family 3 (amino acid transporter heavy chain), member 2	34					blood coagulation|carbohydrate metabolic process|cell growth|cellular nitrogen compound metabolic process|leucine import|leukocyte migration|tryptophan transport	apical plasma membrane|cell surface|integral to membrane|melanosome	calcium:sodium antiporter activity|catalytic activity|cation binding|neutral amino acid transmembrane transporter activity|protein binding			endometrium(1)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)	22						CTCAGCGCGGGGGACGACTCA	0.607													5	131					0	0	1	0	0	A	62623842	G	A	62623842	3	1	477	1	0	0	0	0	1	0	0	0	14682	1232	43	2	103	2	SLC3A2	11	62623842	Missense_Mutation	SNP	G	TCGA-TQ-A7RG-01A-11D-A33T-08	3020374	62623842	72382674	31	36876											
C11orf84	144097	broad.mit.edu	37	11	63586445	63586445	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RG-01A-11D-A33T-08	TCGA-TQ-A7RG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7ef8640-7181-4ac4-baa3-549e613bda9c	0403a5cd-541a-466c-a7f4-ee68bfd60a19	g.chr11:63586445G>A	ENST00000294244.4	+	5	1204	c.905G>A	c.(904-906)gGc>gAc	p.G302D		NM_138471.1	NP_612480.1	Q9BUA3	CK084_HUMAN	chromosome 11 open reading frame 84	302										endometrium(3)|kidney(1)|lung(3)|skin(1)	8						GCAGAAGGAGGCCTTCCCCGG	0.662													4	111					0	0	1	0	0	A	63586445	G	A	63586445	3	1	477	1	0	0	0	0	1	0	0	0	1672	1203	42	2	923	2	C11orf84	11	63586445	Missense_Mutation	SNP	G	TCGA-TQ-A7RG-01A-11D-A33T-08	962603	63586445	71420071	32	36877											
KDELC2	143888	broad.mit.edu	37	11	108352771	108352771	+	Missense_Mutation	SNP	C	C	G			TCGA-TQ-A7RG-01A-11D-A33T-08	TCGA-TQ-A7RG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7ef8640-7181-4ac4-baa3-549e613bda9c	0403a5cd-541a-466c-a7f4-ee68bfd60a19	g.chr11:108352771C>G	ENST00000434945.2	-	3	997	c.695G>C	c.(694-696)gGt>gCt	p.G232A	KDELC2_ENST00000532730.1_Intron|KDELC2_ENST00000323468.5_Missense_Mutation_p.G288A|KDELC2_ENST00000375648.1_Missense_Mutation_p.G232A			Q7Z4H8	KDEL2_HUMAN	KDEL (Lys-Asp-Glu-Leu) containing 2	288						endoplasmic reticulum lumen				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	13		all_cancers(61;1.38e-11)|all_epithelial(67;3.16e-07)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;6.93e-06)|BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|all cancers(92;0.00016)|OV - Ovarian serous cystadenocarcinoma(223;0.132)|Colorectal(284;0.14)		ATTTGTAACACCCCGCATGGC	0.438													40	200					0	0	1	0	0	G	108352771	C	G	108352771	3	3	477	1	0	0	0	0	1	0	0	0	8162	507	18	5	680	5	KDELC2	11	108352771	Missense_Mutation	SNP	C	TCGA-TQ-A7RG-01A-11D-A33T-08	44766326	108352771	26653745	33	36878											
MRPS31	10240	broad.mit.edu	37	13	41303682	41303682	+	Silent	SNP	C	C	T			TCGA-TQ-A7RG-01A-11D-A33T-08	TCGA-TQ-A7RG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7ef8640-7181-4ac4-baa3-549e613bda9c	0403a5cd-541a-466c-a7f4-ee68bfd60a19	g.chr13:41303682C>T	ENST00000323563.6	-	7	1050	c.1014G>A	c.(1012-1014)ctG>ctA	p.L338L	MRPS31_ENST00000498078.1_5'UTR	NM_005830.3	NP_005821.2	Q92665	RT31_HUMAN	mitochondrial ribosomal protein S31	338						mitochondrion|ribosome	protein domain specific binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	13		Lung NSC(96;3.55e-06)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194)		all cancers(112;1.52e-08)|Epithelial(112;7.63e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000192)|GBM - Glioblastoma multiforme(144;0.00233)|BRCA - Breast invasive adenocarcinoma(63;0.0706)		GAAAGCTCTCCAGGTGTTTCT	0.363													19	112					0	0	1	0	0	T	41303682	C	T	41303682	2	4	477	1	0	0	0	0	0	0	0	1	9890	581	21	2		2	MRPS31	13	41303682	Silent	SNP	C	TCGA-TQ-A7RG-01A-11D-A33T-08		41303682	73866196	34	36879											
DHRS4	10901	broad.mit.edu	37	14	24424420	24424420	+	Splice_Site	SNP	C	C	T			TCGA-TQ-A7RG-01A-11D-A33T-08	TCGA-TQ-A7RG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7ef8640-7181-4ac4-baa3-549e613bda9c	0403a5cd-541a-466c-a7f4-ee68bfd60a19	g.chr14:24424420C>T	ENST00000313250.5	+	2	508	c.305C>T	c.(304-306)aCg>aTg	p.T102M	DHRS4_ENST00000308178.8_Splice_Site_p.T84M|DHRS4_ENST00000397075.3_Splice_Site_p.T102M|DHRS4_ENST00000558263.1_Splice_Site_p.T102M|DHRS4_ENST00000421831.1_Splice_Site_p.T84M|DHRS4_ENST00000382761.3_Splice_Site_p.T84M|DHRS4_ENST00000397073.2_Splice_Site_p.T84M|DHRS4_ENST00000558581.1_Splice_Site_p.T102M|DHRS4_ENST00000397074.3_Splice_Site_p.T102M|DHRS4_ENST00000559632.1_Splice_Site_p.T102M|DHRS4_ENST00000543741.2_Splice_Site_p.T102M	NM_021004.2	NP_066284.2	Q9BTZ2	DHRS4_HUMAN	dehydrogenase/reductase (SDR family) member 4	102				T -> M (in Ref. 1; AAD02292).		mitochondrion|nuclear membrane|peroxisome	binding|carbonyl reductase (NADPH) activity	p.T102M(4)		central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14				GBM - Glioblastoma multiforme(265;0.00962)	Vitamin A(DB00162)	CTGGTGGCCACGGTGAGCTGC	0.652													4	52					0	0	1	0	0	T	24424420	C	T	24424420	5	4	477	1	0	0	0	0	0	0	1	0	4520	550	19	1	311	1	DHRS4	14	24424420	Splice_Site	SNP	C	TCGA-TQ-A7RG-01A-11D-A33T-08		24424420	82925120	35	36880											
KHNYN	23351	broad.mit.edu	37	14	24901559	24901559	+	Silent	SNP	G	G	A			TCGA-TQ-A7RG-01A-11D-A33T-08	TCGA-TQ-A7RG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7ef8640-7181-4ac4-baa3-549e613bda9c	0403a5cd-541a-466c-a7f4-ee68bfd60a19	g.chr14:24901559G>A	ENST00000251343.5	+	3	1231	c.1092G>A	c.(1090-1092)ccG>ccA	p.P364P	KHNYN_ENST00000553935.1_Silent_p.P364P|KHNYN_ENST00000556842.1_Silent_p.P364P			O15037	KHNYN_HUMAN	KH and NYN domain containing	364								p.P364P(1)		kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(3)	24						CACCTGCACCGGAACCCCCAT	0.697											OREG0022627	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	15	85					0	0	1	0	0	A	24901559	G	A	24901559	2	1	477	1	0	0	0	0	0	0	0	1	8192	1103	39	1		1	KHNYN	14	24901559	Silent	SNP	G	TCGA-TQ-A7RG-01A-11D-A33T-08	477139	24901559	82447981	36	36881											
MDGA2	161357	broad.mit.edu	37	14	47315042	47315042	+	Missense_Mutation	SNP	T	T	C			TCGA-TQ-A7RG-01A-11D-A33T-08	TCGA-TQ-A7RG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7ef8640-7181-4ac4-baa3-549e613bda9c	0403a5cd-541a-466c-a7f4-ee68bfd60a19	g.chr14:47315042T>C	ENST00000426342.1	-	16	2768	c.2022A>G	c.(2020-2022)atA>atG	p.I674M	MDGA2_ENST00000357362.3_Missense_Mutation_p.I674M|MDGA2_ENST00000399232.2_Missense_Mutation_p.I903M|MDGA2_ENST00000439988.3_Missense_Mutation_p.I972M|MDGA2_ENST00000399222.3_Missense_Mutation_p.I105M	NM_182830.3	NP_878250.2	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	903					spinal cord motor neuron differentiation	anchored to membrane|plasma membrane				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						TGTCACCTTCTATTCCAGGAC	0.363													19	150					0	0	1	0	0	C	47315042	T	C	47315042	3	2	477	1	0	0	0	0	1	0	0	0	9457	1512	53	3	169	3	MDGA2	14	47315042	Missense_Mutation	SNP	T	TCGA-TQ-A7RG-01A-11D-A33T-08	22413483	47315042	60034498	37	36882											
JAG2	3714	broad.mit.edu	37	14	105609285	105609285	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RG-01A-11D-A33T-08	TCGA-TQ-A7RG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7ef8640-7181-4ac4-baa3-549e613bda9c	0403a5cd-541a-466c-a7f4-ee68bfd60a19	g.chr14:105609285G>A	ENST00000331782.3	-	26	3867	c.3464C>T	c.(3463-3465)aCg>aTg	p.T1155M	JAG2_ENST00000347004.2_Missense_Mutation_p.T1117M	NM_002226.4	NP_002217.3	Q9Y219	JAG2_HUMAN	jagged 2	1155					auditory receptor cell fate commitment|cell communication|cell cycle|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation|spermatogenesis|thymic T cell selection	integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5)	22		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		cggcggcggcgTGAAGTTCTT	0.721													35	39					0	0	1	0	0	A	105609285	G	A	105609285	3	1	477	1	0	0	0	0	1	0	0	0	7979	1145	40	1	256	1	JAG2	14	105609285	Missense_Mutation	SNP	G	TCGA-TQ-A7RG-01A-11D-A33T-08	58294243	105609285	1740255	38	36883											
HERC2	8924	broad.mit.edu	37	15	28375699	28375699	+	Silent	SNP	G	G	A	rs61756151	byFrequency	TCGA-TQ-A7RG-01A-11D-A33T-08	TCGA-TQ-A7RG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7ef8640-7181-4ac4-baa3-549e613bda9c	0403a5cd-541a-466c-a7f4-ee68bfd60a19	g.chr15:28375699G>A	ENST00000261609.7	-	82	12720	c.12612C>T	c.(12610-12612)tgC>tgT	p.C4204C		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	4204					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		ACTGGGATCCGCATTCCACTT	0.418													6	492					0	0	1	0	0	A	28375699	G	A	28375699	2	1	477	1	0	0	0	0	0	0	0	1	7099	1079	38	1		1	HERC2	15	28375699	Silent	SNP	G	TCGA-TQ-A7RG-01A-11D-A33T-08		28375699	74155693	39	36884											
CACNG3	10368	broad.mit.edu	37	16	24372900	24372900	+	Missense_Mutation	SNP	G	G	T			TCGA-TQ-A7RG-01A-11D-A33T-08	TCGA-TQ-A7RG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7ef8640-7181-4ac4-baa3-549e613bda9c	0403a5cd-541a-466c-a7f4-ee68bfd60a19	g.chr16:24372900G>T	ENST00000005284.3	+	4	1866	c.664G>T	c.(664-666)Gcc>Tcc	p.A222S		NM_006539.3	NP_006530.1	O60359	CCG3_HUMAN	calcium channel, voltage-dependent, gamma subunit 3	222					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2)	40				GBM - Glioblastoma multiforme(48;0.0809)		ATCTACTTTTGCCCGCCTCCC	0.532													5	173					0.000602214	0.000618273	1	1	0	T	24372900	G	T	24372900	3	4	477	1	0	0	0	0	1	0	0	0	2576	1319	46	5	678	5	CACNG3	16	24372900	Missense_Mutation	SNP	G	TCGA-TQ-A7RG-01A-11D-A33T-08		24372900	65981853	40	36885											
NLRC5	84166	broad.mit.edu	37	16	57110788	57110788	+	Silent	SNP	G	G	A			TCGA-TQ-A7RG-01A-11D-A33T-08	TCGA-TQ-A7RG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7ef8640-7181-4ac4-baa3-549e613bda9c	0403a5cd-541a-466c-a7f4-ee68bfd60a19	g.chr16:57110788G>A	ENST00000262510.6	+	40	5034	c.4809G>A	c.(4807-4809)agG>agA	p.R1603R	NLRC5_ENST00000308149.7_Silent_p.R1574R|NLRC5_ENST00000539144.1_Silent_p.R1574R|NLRC5_ENST00000436936.1_3'UTR	NM_032206.4	NP_115582.4	Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	1603					defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				AGGCTCTCAGGGCTGCCACCA	0.552													46	57					0	0	1	0	0	A	57110788	G	A	57110788	2	1	477	1	0	0	0	0	0	0	0	1	10517	1223	43	2		2	NLRC5	16	57110788	Silent	SNP	G	TCGA-TQ-A7RG-01A-11D-A33T-08	32737888	57110788	33243965	41	36886											
SLC13A5	284111	broad.mit.edu	37	17	6599239	6599239	+	Silent	SNP	G	G	A	rs148018915		TCGA-TQ-A7RG-01A-11D-A33T-08	TCGA-TQ-A7RG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7ef8640-7181-4ac4-baa3-549e613bda9c	0403a5cd-541a-466c-a7f4-ee68bfd60a19	g.chr17:6599239G>A	ENST00000433363.2	-	7	1094	c.861C>T	c.(859-861)tgC>tgT	p.C287C	SLC13A5_ENST00000573648.1_Silent_p.C287C|SLC13A5_ENST00000381074.4_Silent_p.C244C|SLC13A5_ENST00000293800.6_Silent_p.C270C	NM_001284510.1|NM_177550.3	NP_001271439.1|NP_808218.1	Q86YT5	S13A5_HUMAN	solute carrier family 13 (sodium-dependent citrate transporter), member 5	287						integral to membrane	citrate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|prostate(5)|skin(3)|urinary_tract(1)	26						TCTCTAGCCCGCAGCCCCAGG	0.547													4	191					0	0	1	0	0	A	6599239	G	A	6599239	2	1	477	1	0	0	0	0	0	0	0	1	14450	1079	38	1		1	SLC13A5	17	6599239	Silent	SNP	G	TCGA-TQ-A7RG-01A-11D-A33T-08		6599239	74595971	42	36887											
TNFSF9	8744	broad.mit.edu	37	19	6531149	6531151	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-TQ-A7RG-01A-11D-A33T-08	TCGA-TQ-A7RG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7ef8640-7181-4ac4-baa3-549e613bda9c	0403a5cd-541a-466c-a7f4-ee68bfd60a19	g.chr19:6531149_6531151delGCT	ENST00000245817.3	+	1	140_142	c.102_104delGCT	c.(100-105)gggctg>ggg	p.L41del		NM_003811.3	NP_003802.1	P41273	TNFL9_HUMAN	tumor necrosis factor (ligand) superfamily, member 9	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	116	---	---	---	---						-	6531151	GCT	-	6531149	7	5	477	1	0	1	0	1	0	0	0	0	16372	1190	42	0	104	0	TNFSF9	19	6531149	In_Frame_Del	DEL	GCT	TCGA-TQ-A7RG-01A-11D-A33T-08		6531149	52597834	43	36888											
TSHZ3	57616	broad.mit.edu	37	19	31769127	31769127	+	Missense_Mutation	SNP	T	T	A			TCGA-TQ-A7RG-01A-11D-A33T-08	TCGA-TQ-A7RG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7ef8640-7181-4ac4-baa3-549e613bda9c	0403a5cd-541a-466c-a7f4-ee68bfd60a19	g.chr19:31769127T>A	ENST00000240587.4	-	2	1899	c.1572A>T	c.(1570-1572)aaA>aaT	p.K524N		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	524					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					TTTCCAAGGATTTGAGGATAT	0.507													75	153					0	0	1	0	0	A	31769127	T	A	31769127	3	1	477	1	0	0	0	0	1	0	0	0	16686	1490	52	4	1677	4	TSHZ3	19	31769127	Missense_Mutation	SNP	T	TCGA-TQ-A7RG-01A-11D-A33T-08	25237978	31769127	27359856	44	36889											
CCDC8	83987	broad.mit.edu	37	19	46915066	46915066	+	Silent	SNP	A	A	G			TCGA-TQ-A7RG-01A-11D-A33T-08	TCGA-TQ-A7RG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7ef8640-7181-4ac4-baa3-549e613bda9c	0403a5cd-541a-466c-a7f4-ee68bfd60a19	g.chr19:46915066A>G	ENST00000307522.3	-	1	1775	c.1002T>C	c.(1000-1002)aaT>aaC	p.N334N		NM_032040.4	NP_114429.2	Q9H0W5	CCDC8_HUMAN	coiled-coil domain containing 8	334						plasma membrane				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421)		CTTCCCTCTGATTATCTGCAG	0.597													5	242					0	0	1	0	0	G	46915066	A	G	46915066	2	3	477	1	0	0	0	0	0	0	0	1	2873	330	12	3		3	CCDC8	19	46915066	Silent	SNP	A	TCGA-TQ-A7RG-01A-11D-A33T-08	15145939	46915066	12213917	45	36890											
PHF20	51230	broad.mit.edu	37	20	34487400	34487400	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RG-01A-11D-A33T-08	TCGA-TQ-A7RG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7ef8640-7181-4ac4-baa3-549e613bda9c	0403a5cd-541a-466c-a7f4-ee68bfd60a19	g.chr20:34487400G>A	ENST00000374012.3	+	10	1520	c.1391G>A	c.(1390-1392)cGc>cAc	p.R464H	PHF20_ENST00000481202.1_3'UTR|PHF20_ENST00000439301.1_3'UTR			Q9BVI0	PHF20_HUMAN	PHD finger protein 20	464					regulation of transcription, DNA-dependent|transcription, DNA-dependent	MLL1 complex	DNA binding|zinc ion binding			breast(5)|endometrium(1)|kidney(7)|large_intestine(6)|lung(11)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(12;0.00631)|all_lung(11;0.0145)					AAATTTTTCCGCAAAGCCAAA	0.428													4	120					0	0	1	0	0	A	34487400	G	A	34487400	3	1	477	1	0	0	0	0	1	0	0	0	11879	1087	38	1	1425	1	PHF20	20	34487400	Missense_Mutation	SNP	G	TCGA-TQ-A7RG-01A-11D-A33T-08		34487400	28538120	46	36891											
CHD6	84181	broad.mit.edu	37	20	40049627	40049627	+	Missense_Mutation	SNP	C	C	G			TCGA-TQ-A7RG-01A-11D-A33T-08	TCGA-TQ-A7RG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7ef8640-7181-4ac4-baa3-549e613bda9c	0403a5cd-541a-466c-a7f4-ee68bfd60a19	g.chr20:40049627C>G	ENST00000373233.3	-	31	5825	c.5648G>C	c.(5647-5649)gGc>gCc	p.G1883A		NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	1883					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				TTCCCCCATGCCTACTGCCAT	0.453													21	156					0	0	1	0	0	G	40049627	C	G	40049627	3	3	477	1	0	0	0	0	1	0	0	0	3351	739	26	5	2527	5	CHD6	20	40049627	Missense_Mutation	SNP	C	TCGA-TQ-A7RG-01A-11D-A33T-08	5562227	40049627	22975893	47	36892											
ZFP64	55734	broad.mit.edu	37	20	50769656	50769656	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RG-01A-11D-A33T-08	TCGA-TQ-A7RG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7ef8640-7181-4ac4-baa3-549e613bda9c	0403a5cd-541a-466c-a7f4-ee68bfd60a19	g.chr20:50769656G>A	ENST00000216923.4	-	6	1424	c.1075C>T	c.(1075-1077)Cgc>Tgc	p.R359C	ZFP64_ENST00000477786.1_Intron|ZFP64_ENST00000361387.2_Intron|ZFP64_ENST00000371518.2_Intron|ZFP64_ENST00000371515.4_Missense_Mutation_p.R357C|ZFP64_ENST00000346617.4_Missense_Mutation_p.R305C	NM_018197.2|NM_199426.1	NP_060667.2|NP_955458.1	Q9NPA5	ZF64A_HUMAN	ZFP64 zinc finger protein	359					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						TCGTGGATGCGCAGGGCGGCC	0.597													4	215					0	0	1	0	0	A	50769656	G	A	50769656	3	1	477	1	0	0	0	0	1	0	0	0	17710	1087	38	1	2165	1	ZFP64	20	50769656	Missense_Mutation	SNP	G	TCGA-TQ-A7RG-01A-11D-A33T-08	10720029	50769656	12255864	48	36893											
TBC1D10A	83874	broad.mit.edu	37	22	30688804	30688804	+	Missense_Mutation	SNP	G	G	C			TCGA-TQ-A7RG-01A-11D-A33T-08	TCGA-TQ-A7RG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7ef8640-7181-4ac4-baa3-549e613bda9c	0403a5cd-541a-466c-a7f4-ee68bfd60a19	g.chr22:30688804G>C	ENST00000215790.7	-	9	1251	c.1087C>G	c.(1087-1089)Cgc>Ggc	p.R363G	TBC1D10A_ENST00000403362.1_Missense_Mutation_p.R275G|RP1-130H16.18_ENST00000447976.1_Intron|TBC1D10A_ENST00000403477.3_Missense_Mutation_p.R370G	NM_031937.2	NP_114143.1	Q9BXI6	TB10A_HUMAN	TBC1 domain family, member 10A	363						intracellular|microvillus	guanyl-nucleotide exchange factor activity|PDZ domain binding|Rab GTPase activator activity	p.R363S(1)		cervix(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						AGGTGTTCGCGCTCAATCTGG	0.637													37	55					0	0	1	0	0	C	30688804	G	C	30688804	3	2	477	1	0	0	0	0	1	0	0	0	15655	1087	38	5	443	5	TBC1D10A	22	30688804	Missense_Mutation	SNP	G	TCGA-TQ-A7RG-01A-11D-A33T-08		30688804	20615762	49	36894											
PARVG	64098	broad.mit.edu	37	22	44583736	44583736	+	Silent	SNP	G	G	A			TCGA-TQ-A7RG-01A-11D-A33T-08	TCGA-TQ-A7RG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7ef8640-7181-4ac4-baa3-549e613bda9c	0403a5cd-541a-466c-a7f4-ee68bfd60a19	g.chr22:44583736G>A	ENST00000444313.3	+	5	709	c.225G>A	c.(223-225)ggG>ggA	p.G75G	PARVG_ENST00000415224.1_Silent_p.G75G|PARVG_ENST00000422871.1_Silent_p.G75G	NM_022141.5	NP_071424.1	Q9HBI0	PARVG_HUMAN	parvin, gamma		CH 1.				cell-matrix adhesion	cytoplasm|cytoskeleton|focal adhesion	actin binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(10)	17		Ovarian(80;0.024)|all_neural(38;0.0299)				TGTTCGACGGGCTCATCCTAC	0.627													8	102					0	0	1	0	0	A	44583736	G	A	44583736	2	1	477	1	0	0	0	0	0	0	0	1	11517	1190	42	2		2	PARVG	22	44583736	Silent	SNP	G	TCGA-TQ-A7RG-01A-11D-A33T-08	13894932	44583736	6720830	50	36895											
KLHDC7B	113730	broad.mit.edu	37	22	50988099	50988099	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RG-01A-11D-A33T-08	TCGA-TQ-A7RG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7ef8640-7181-4ac4-baa3-549e613bda9c	0403a5cd-541a-466c-a7f4-ee68bfd60a19	g.chr22:50988099C>T	ENST00000395676.2	+	1	1638	c.1504C>T	c.(1504-1506)Cgg>Tgg	p.R502W		NM_138433.3	NP_612442.2	Q96G42	KLD7B_HUMAN	kelch domain containing 7B	502										central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	14		all_cancers(38;1.53e-10)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		OV - Ovarian serous cystadenocarcinoma(4;7.49e-69)|all cancers(3;9.79e-66)|Epithelial(4;1.3e-63)|GBM - Glioblastoma multiforme(4;0.000399)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CGACCTGCTGCGGGGCGTGGG	0.697													14	151					0	0	1	0	0	T	50988099	C	T	50988099	3	4	477	1	0	0	0	0	1	0	0	0	8404	759	27	1	1506	1	KLHDC7B	22	50988099	Missense_Mutation	SNP	C	TCGA-TQ-A7RG-01A-11D-A33T-08	6404363	50988099	316467	51	36896											
CD99L2	83692	broad.mit.edu	37	X	149937526	149937528	+	In_Frame_Del	DEL	GGC	GGC	-	rs7877654	byFrequency	TCGA-TQ-A7RG-01A-11D-A33T-08	TCGA-TQ-A7RG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7ef8640-7181-4ac4-baa3-549e613bda9c	0403a5cd-541a-466c-a7f4-ee68bfd60a19	g.chrX:149937526_149937528delGGC	ENST00000370377.3	-	11	885_887	c.768_770delGCC	c.(766-771)ccgccc>ccc	p.256_257PP>P	CD99L2_ENST00000466436.1_In_Frame_Del_p.207_208PP>P|CD99L2_ENST00000355149.3_In_Frame_Del_p.184_185PP>P|CD99L2_ENST00000346693.4_5'UTR|CD99L2_ENST00000437787.2_In_Frame_Del_p.183_184PP>P	NM_001242614.1|NM_031462.3	NP_001229543.1|NP_113650.2	Q8TCZ2	C99L2_HUMAN	CD99 molecule-like 2	256	Poly-Pro.				cell adhesion	cell junction|integral to membrane				endometrium(4)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					GGCTGGTTCGGGCGGCGGCGGCG	0.611													7	231	---	---	---	---						-	149937528	GGC	-	149937526	7	5	477	1	0	1	0	1	0	0	0	0	3073	1232	43	0	22	0	CD99L2	23	149937526	In_Frame_Del	DEL	GGC	TCGA-TQ-A7RG-01A-11D-A33T-08		149937526	5333034	52	36897											
L1CAM	3897	broad.mit.edu	37	X	153130847	153130847	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RG-01A-11D-A33T-08	TCGA-TQ-A7RG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7ef8640-7181-4ac4-baa3-549e613bda9c	0403a5cd-541a-466c-a7f4-ee68bfd60a19	g.chrX:153130847G>A	ENST00000370060.1	-	21	2845	c.2656C>T	c.(2656-2658)Cgg>Tgg	p.R886W	L1CAM_ENST00000370055.1_Missense_Mutation_p.R881W|L1CAM_ENST00000361981.3_Missense_Mutation_p.R881W|L1CAM_ENST00000538883.1_Missense_Mutation_p.R888W|L1CAM_ENST00000361699.4_Missense_Mutation_p.R886W|L1CAM_ENST00000543994.1_Missense_Mutation_p.R888W|L1CAM_ENST00000370057.3_Missense_Mutation_p.R886W	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	886	Fibronectin type-III 3.				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane		p.R886W(1)		NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CTATAGGGCCGCAAGCCACTG	0.612													4	152					0	0	1	0	0	A	153130847	G	A	153130847	3	1	477	1	0	0	0	0	1	0	0	0	8627	1086	38	1	1153	1	L1CAM	23	153130847	Missense_Mutation	SNP	G	TCGA-TQ-A7RG-01A-11D-A33T-08	3193321	153130847	2139713	53	36898											
APOB	338	broad.mit.edu	37	2	21236129	21236129	+	Nonsense_Mutation	SNP	G	G	T			TCGA-TQ-A7RH-01A-12D-A34A-08	TCGA-TQ-A7RH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92353c63-d5c2-4230-a396-f59612726e28	ec2bcc74-83ae-40d9-84f1-4655f7dcb336	g.chr2:21236129G>T	ENST00000233242.1	-	25	4246	c.4119C>A	c.(4117-4119)taC>taA	p.Y1373*		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	1373					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TGCCACCACTGTAGGAGGCGG	0.512													10	214					0.0135373	0.0143	1	1	0	T	21236129	G	T	21236129	4	4	478	1	0	0	0	0	0	1	0	0	782	1372	48	5	9592	5	APOB	2	21236129	Nonsense_Mutation	SNP	G	TCGA-TQ-A7RH-01A-12D-A34A-08		21236129	221963244	1	36899											
SEMA4F	10505	broad.mit.edu	37	2	74901641	74901641	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RH-01A-12D-A34A-08	TCGA-TQ-A7RH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92353c63-d5c2-4230-a396-f59612726e28	ec2bcc74-83ae-40d9-84f1-4655f7dcb336	g.chr2:74901641G>A	ENST00000357877.2	+	8	988	c.839G>A	c.(838-840)cGg>cAg	p.R280Q	SEMA4F_ENST00000339773.5_Missense_Mutation_p.R125Q	NM_004263.3	NP_004254.2	O95754	SEM4F_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4F	280	Sema.				cell-cell signaling	endoplasmic reticulum|integral to plasma membrane	receptor activity			biliary_tract(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	45						CTCGGGGGCCGGAAGACCCTC	0.562													20	43					0	0	1	0	0	A	74901641	G	A	74901641	3	1	478	1	0	0	0	0	1	0	0	0	14089	1116	39	1	869	1	SEMA4F	2	74901641	Missense_Mutation	SNP	G	TCGA-TQ-A7RH-01A-12D-A34A-08	53665512	74901641	168297732	2	36900											
SLC39A10	57181	broad.mit.edu	37	2	196582986	196582986	+	Silent	SNP	C	C	T			TCGA-TQ-A7RH-01A-12D-A34A-08	TCGA-TQ-A7RH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92353c63-d5c2-4230-a396-f59612726e28	ec2bcc74-83ae-40d9-84f1-4655f7dcb336	g.chr2:196582986C>T	ENST00000409086.3	+	8	2351	c.2076C>T	c.(2074-2076)ttC>ttT	p.F692F	SLC39A10_ENST00000359634.5_Silent_p.F692F|SLC39A10_ENST00000541054.1_Silent_p.F242F	NM_001127257.1	NP_001120729.1	Q9ULF5	S39AA_HUMAN	solute carrier family 39 (zinc transporter), member 10	692					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(16)|pancreas(1)|prostate(1)|skin(2)	34			OV - Ovarian serous cystadenocarcinoma(117;0.221)			GTGCAGCTTTCAGTGCTGGAT	0.363													24	73					0	0	1	0	0	T	196582986	C	T	196582986	2	4	478	1	0	0	0	0	0	0	0	1	14668	825	29	2		2	SLC39A10	2	196582986	Silent	SNP	C	TCGA-TQ-A7RH-01A-12D-A34A-08	121681345	196582986	46616387	3	36901											
STRADB	55437	broad.mit.edu	37	2	202323545	202323545	+	Silent	SNP	C	C	A			TCGA-TQ-A7RH-01A-12D-A34A-08	TCGA-TQ-A7RH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92353c63-d5c2-4230-a396-f59612726e28	ec2bcc74-83ae-40d9-84f1-4655f7dcb336	g.chr2:202323545C>A	ENST00000194530.3	+	3	416	c.51C>A	c.(49-51)ctC>ctA	p.L17L	STRADB_ENST00000392249.2_Silent_p.L17L|STRADB_ENST00000488196.1_3'UTR	NM_001206864.1|NM_018571.5	NP_001193793.1|NP_061041.2	Q9C0K7	STRAB_HUMAN	STE20-related kinase adaptor beta	17					activation of protein kinase activity|cell cycle arrest|insulin receptor signaling pathway|protein export from nucleus|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|protein binding|protein kinase activity			breast(1)|large_intestine(2)|lung(5)|prostate(1)|skin(3)|stomach(1)	13						TTGAATCACTCAGACCTGAAA	0.408													13	201					5.50884e-06	6.26004e-06	1	1	0	A	202323545	C	A	202323545	2	1	478	1	0	0	0	0	0	0	0	1	15381	813	29	5		5	STRADB	2	202323545	Silent	SNP	C	TCGA-TQ-A7RH-01A-12D-A34A-08	5740559	202323545	40875828	4	36902											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-TQ-A7RH-01A-12D-A34A-08	TCGA-TQ-A7RH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92353c63-d5c2-4230-a396-f59612726e28	ec2bcc74-83ae-40d9-84f1-4655f7dcb336	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								44	58					0	0	1	0	0	T	209113112	C	T	209113112	3	4	478	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-TQ-A7RH-01A-12D-A34A-08	6789567	209113112	34086261	5	36903											
CCR8	1237	broad.mit.edu	37	3	39373836	39373836	+	Missense_Mutation	SNP	T	T	C			TCGA-TQ-A7RH-01A-12D-A34A-08	TCGA-TQ-A7RH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92353c63-d5c2-4230-a396-f59612726e28	ec2bcc74-83ae-40d9-84f1-4655f7dcb336	g.chr3:39373836T>C	ENST00000326306.4	+	2	152	c.14T>C	c.(13-15)cTt>cCt	p.L5P	CCR8_ENST00000545843.1_5'UTR|CCR8_ENST00000414803.1_Missense_Mutation_p.L5P	NM_005201.3	NP_005192.1	P51685	CCR8_HUMAN	chemokine (C-C motif) receptor 8	5					cell adhesion|chemotaxis|elevation of cytosolic calcium ion concentration|immune response	integral to plasma membrane	coreceptor activity			NS(3)|breast(1)|endometrium(3)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0504)|Kidney(284;0.0635)		GATTATACACTTGACCTCAGT	0.413													43	58					0	0	1	0	0	C	39373836	T	C	39373836	3	2	478	1	0	0	0	0	1	0	0	0	2969	1609	56	3	16	3	CCR8	3	39373836	Missense_Mutation	SNP	T	TCGA-TQ-A7RH-01A-12D-A34A-08		39373836	158648594	6	36904											
IP6K2	51447	broad.mit.edu	37	3	48725944	48725944	+	Missense_Mutation	SNP	T	T	C			TCGA-TQ-A7RH-01A-12D-A34A-08	TCGA-TQ-A7RH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92353c63-d5c2-4230-a396-f59612726e28	ec2bcc74-83ae-40d9-84f1-4655f7dcb336	g.chr3:48725944T>C	ENST00000328631.5	-	6	1266	c.1043A>G	c.(1042-1044)gAt>gGt	p.D348G		NM_001005909.2|NM_016291.3	NP_001005909.1|NP_057375.2	Q9UHH9	IP6K2_HUMAN	inositol hexakisphosphate kinase 2	348					negative regulation of cell growth|phosphatidylinositol phosphorylation|positive regulation of apoptosis|type I interferon-mediated signaling pathway	intermediate filament cytoskeleton|nucleus	ATP binding|inositol hexakisphosphate 5-kinase activity|inositol trisphosphate 3-kinase activity			biliary_tract(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	15						ATCCTCAGCATCTGAGTCCAG	0.557													13	33					0	0	1	0	0	C	48725944	T	C	48725944	3	2	478	1	0	0	0	0	1	0	0	0	7833	1435	50	3	241	3	IP6K2	3	48725944	Missense_Mutation	SNP	T	TCGA-TQ-A7RH-01A-12D-A34A-08	9352108	48725944	149296486	7	36905											
OR5K1	26339	broad.mit.edu	37	3	98188566	98188566	+	Missense_Mutation	SNP	T	T	C			TCGA-TQ-A7RH-01A-12D-A34A-08	TCGA-TQ-A7RH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92353c63-d5c2-4230-a396-f59612726e28	ec2bcc74-83ae-40d9-84f1-4655f7dcb336	g.chr3:98188566T>C	ENST00000332650.5	+	1	243	c.146T>C	c.(145-147)aTa>aCa	p.I49T		NM_001004736.2	NP_001004736.2	Q8NHB7	OR5K1_HUMAN	olfactory receptor, family 5, subfamily K, member 1	49					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(4)|lung(21)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GTGGCACTGATATTTACACAC	0.458													21	295					0	0	1	0	0	C	98188566	T	C	98188566	3	2	478	1	0	0	0	0	1	0	0	0	11213	1406	49	3	148	3	OR5K1	3	98188566	Missense_Mutation	SNP	T	TCGA-TQ-A7RH-01A-12D-A34A-08	49462622	98188566	99833864	8	36906											
CLSTN2	64084	broad.mit.edu	37	3	140281990	140281990	+	Silent	SNP	C	C	T			TCGA-TQ-A7RH-01A-12D-A34A-08	TCGA-TQ-A7RH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92353c63-d5c2-4230-a396-f59612726e28	ec2bcc74-83ae-40d9-84f1-4655f7dcb336	g.chr3:140281990C>T	ENST00000458420.3	+	15	2617	c.2427C>T	c.(2425-2427)ccC>ccT	p.P809P		NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	809					homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						TGCAGCCTCCCTTCCTCCAGT	0.542										HNSCC(16;0.037)			9	104					0	0	1	0	0	T	140281990	C	T	140281990	2	4	478	1	0	0	0	0	0	0	0	1	3585	668	24	2		2	CLSTN2	3	140281990	Silent	SNP	C	TCGA-TQ-A7RH-01A-12D-A34A-08	42093424	140281990	57740440	9	36907											
ZNF518B	85460	broad.mit.edu	37	4	10445137	10445137	+	Missense_Mutation	SNP	C	C	G			TCGA-TQ-A7RH-01A-12D-A34A-08	TCGA-TQ-A7RH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92353c63-d5c2-4230-a396-f59612726e28	ec2bcc74-83ae-40d9-84f1-4655f7dcb336	g.chr4:10445137C>G	ENST00000326756.3	-	3	3254	c.2816G>C	c.(2815-2817)cGg>cCg	p.R939P		NM_053042.2	NP_444270.2	Q9C0D4	Z518B_HUMAN	zinc finger protein 518B	939					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						TGGCTGGTTCCGACGGGGACA	0.448													7	174					0	0	1	0	0	G	10445137	C	G	10445137	3	3	478	1	0	0	0	0	1	0	0	0	18020	652	23	5	412	5	ZNF518B	4	10445137	Missense_Mutation	SNP	C	TCGA-TQ-A7RH-01A-12D-A34A-08		10445137	180709139	10	36908											
SEL1L3	23231	broad.mit.edu	37	4	25836841	25836841	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RH-01A-12D-A34A-08	TCGA-TQ-A7RH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92353c63-d5c2-4230-a396-f59612726e28	ec2bcc74-83ae-40d9-84f1-4655f7dcb336	g.chr4:25836841G>A	ENST00000399878.3	-	3	960	c.838C>T	c.(838-840)Cgc>Tgc	p.R280C	SEL1L3_ENST00000502949.1_Missense_Mutation_p.R127C|SEL1L3_ENST00000264868.5_Missense_Mutation_p.R245C|SEL1L3_ENST00000513364.1_5'UTR	NM_015187.3	NP_056002.2	Q68CR1	SE1L3_HUMAN	sel-1 suppressor of lin-12-like 3 (C. elegans)	280						integral to membrane	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						ATCCTCTGGCGTCGAGTGGCC	0.537													15	224					0	0	1	0	0	A	25836841	G	A	25836841	3	1	478	1	0	0	0	0	1	0	0	0	14066	1145	40	1	2648	1	SEL1L3	4	25836841	Missense_Mutation	SNP	G	TCGA-TQ-A7RH-01A-12D-A34A-08	15391704	25836841	165317435	11	36909											
RIPK1	8737	broad.mit.edu	37	6	3083466	3083466	+	Missense_Mutation	SNP	G	G	A	rs149432620	byFrequency	TCGA-TQ-A7RH-01A-12D-A34A-08	TCGA-TQ-A7RH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92353c63-d5c2-4230-a396-f59612726e28	ec2bcc74-83ae-40d9-84f1-4655f7dcb336	g.chr6:3083466G>A	ENST00000259808.4	+	5	905	c.607G>A	c.(607-609)Gca>Aca	p.A203T	RIPK1_ENST00000479389.1_3'UTR|RIPK1_ENST00000541791.1_Missense_Mutation_p.A157T|RIPK1_ENST00000380409.2_Missense_Mutation_p.A203T			Q13546	RIPK1_HUMAN	receptor (TNFRSF)-interacting serine-threonine kinase 1	203	Protein kinase.				activation of caspase activity|activation of JUN kinase activity|activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|induction of necroptosis by extracellular signals|innate immune response|MyD88-independent toll-like receptor signaling pathway|positive regulation of anti-apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 production|positive regulation of NF-kappaB transcription factor activity|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|protein autophosphorylation|regulation of ATP:ADP antiporter activity|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|death-inducing signaling complex|endosome membrane|mitochondrion|receptor complex	ATP binding|death domain binding|death receptor binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	23	Ovarian(93;0.0386)	all_hematologic(90;0.0895)				TGACGTCAACGCAAAGCCCAC	0.488													4	88					0	0	1	0	0	A	3083466	G	A	3083466	3	1	478	1	0	0	0	0	1	0	0	0	13432	1087	38	1	621	1	RIPK1	6	3083466	Missense_Mutation	SNP	G	TCGA-TQ-A7RH-01A-12D-A34A-08		3083466	168031601	12	36910											
HIST1H2BE	8344	broad.mit.edu	37	6	26184184	26184184	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RH-01A-12D-A34A-08	TCGA-TQ-A7RH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92353c63-d5c2-4230-a396-f59612726e28	ec2bcc74-83ae-40d9-84f1-4655f7dcb336	g.chr6:26184184G>A	ENST00000356530.3	+	1	227	c.161G>A	c.(160-162)gGc>gAc	p.G54D		NM_003523.2	NP_003514.2	P62807	H2B1C_HUMAN	histone cluster 1, H2be	54					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding			endometrium(1)|large_intestine(2)|lung(1)	4						CCCGACACCGGCATCTCCTCT	0.577													5	288					0	0	1	0	0	A	26184184	G	A	26184184	3	1	478	1	0	0	0	0	1	0	0	0	7185	1203	42	2	163	2	HIST1H2BE	6	26184184	Missense_Mutation	SNP	G	TCGA-TQ-A7RH-01A-12D-A34A-08	23100718	26184184	144930883	13	36911											
DST	667	broad.mit.edu	37	6	56418203	56418203	+	Missense_Mutation	SNP	T	T	A			TCGA-TQ-A7RH-01A-12D-A34A-08	TCGA-TQ-A7RH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92353c63-d5c2-4230-a396-f59612726e28	ec2bcc74-83ae-40d9-84f1-4655f7dcb336	g.chr6:56418203T>A	ENST00000370754.5	-	61	15293	c.15294A>T	c.(15292-15294)caA>caT	p.Q5098H	DST_ENST00000421834.2_Missense_Mutation_p.Q2832H|DST_ENST00000370788.2_Missense_Mutation_p.Q2832H|DST_ENST00000370769.4_Missense_Mutation_p.Q4920H|DST_ENST00000446842.2_Missense_Mutation_p.Q4594H|DST_ENST00000312431.6_3'UTR|DST_ENST00000361203.3_Missense_Mutation_p.Q4918H|DST_ENST00000244364.6_Missense_Mutation_p.Q2506H			Q03001	DYST_HUMAN	dystonin	4918					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TCTCAGACCCTTGTGTTTTTA	0.318													4	98					0	0	1	0	0	A	56418203	T	A	56418203	3	1	478	1	0	0	0	0	1	0	0	0	4809	1606	56	5	8169	5	DST	6	56418203	Missense_Mutation	SNP	T	TCGA-TQ-A7RH-01A-12D-A34A-08	30234019	56418203	114696864	14	36912											
LAMA2	3908	broad.mit.edu	37	6	129419488	129419488	+	Silent	SNP	G	G	A			TCGA-TQ-A7RH-01A-12D-A34A-08	TCGA-TQ-A7RH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92353c63-d5c2-4230-a396-f59612726e28	ec2bcc74-83ae-40d9-84f1-4655f7dcb336	g.chr6:129419488G>A	ENST00000421865.2	+	4	616	c.567G>A	c.(565-567)ccG>ccA	p.P189P		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	189	Laminin N-terminal.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		CTGGGCCACCGTCATATGCCA	0.448													29	53					0	0	1	0	0	A	129419488	G	A	129419488	2	1	478	1	0	0	0	0	0	0	0	1	8645	1132	40	1		1	LAMA2	6	129419488	Silent	SNP	G	TCGA-TQ-A7RH-01A-12D-A34A-08	73001285	129419488	41695579	15	36913											
HOXA11	3207	broad.mit.edu	37	7	27222531	27222531	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RH-01A-12D-A34A-08	TCGA-TQ-A7RH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92353c63-d5c2-4230-a396-f59612726e28	ec2bcc74-83ae-40d9-84f1-4655f7dcb336	g.chr7:27222531G>A	ENST00000006015.3	-	2	897	c.826C>T	c.(826-828)Cgc>Tgc	p.R276C		NM_005523.5	NP_005514.1	P31270	HXA11_HUMAN	homeobox A11	276					branching involved in ureteric bud morphogenesis|cartilage development involved in endochondral bone morphogenesis|developmental growth|dorsal/ventral pattern formation|mesodermal cell fate specification|positive regulation of cell development|positive regulation of chondrocyte differentiation	protein-DNA complex|transcription factor complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.R276S(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	16						TTGAGCATGCGGGACAGTTGC	0.458			T	NUP98	CML								4	172					0	0	1	0	0	A	27222531	G	A	27222531	3	1	478	1	0	0	0	0	1	0	0	0	7331	1116	39	1	119	1	HOXA11	7	27222531	Missense_Mutation	SNP	G	TCGA-TQ-A7RH-01A-12D-A34A-08		27222531	131916132	16	36914											
IKZF1	10320	broad.mit.edu	37	7	50455076	50455076	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RH-01A-12D-A34A-08	TCGA-TQ-A7RH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92353c63-d5c2-4230-a396-f59612726e28	ec2bcc74-83ae-40d9-84f1-4655f7dcb336	g.chr7:50455076G>A	ENST00000331340.3	+	6	778	c.623G>A	c.(622-624)cGa>cAa	p.R208Q	IKZF1_ENST00000349824.4_Intron|IKZF1_ENST00000438033.1_Missense_Mutation_p.R121Q|IKZF1_ENST00000346667.4_Intron|IKZF1_ENST00000359197.5_Intron|IKZF1_ENST00000357364.4_Intron|IKZF1_ENST00000440768.2_Intron|IKZF1_ENST00000343574.5_Missense_Mutation_p.R121Q|IKZF1_ENST00000439701.1_Intron	NM_001220769.1|NM_001220772.1|NM_001220773.1|NM_001220775.1|NM_006060.4	NP_001207698.1|NP_001207701.1|NP_001207702.1|NP_001207704.1|NP_006051.1	Q13422	IKZF1_HUMAN	IKAROS family zinc finger 1 (Ikaros)	208					cell cycle|chromatin modification|mesoderm development	cytoplasm|nucleus	zinc ion binding	p.?(131)		haematopoietic_and_lymphoid_tissue(275)|lung(1)	276	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)				TATTGTGGCCGAAGCTATAAA	0.473			"D,T"	BCL6	"ALL, DLBCL"								14	44					0	0	1	0	0	A	50455076	G	A	50455076	3	1	478	1	0	0	0	0	1	0	0	0	7658	1058	37	1	641	1	IKZF1	7	50455076	Missense_Mutation	SNP	G	TCGA-TQ-A7RH-01A-12D-A34A-08	23232545	50455076	108683587	17	36915											
FBXL13	222235	broad.mit.edu	37	7	102604004	102604004	+	Nonsense_Mutation	SNP	G	G	A			TCGA-TQ-A7RH-01A-12D-A34A-08	TCGA-TQ-A7RH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92353c63-d5c2-4230-a396-f59612726e28	ec2bcc74-83ae-40d9-84f1-4655f7dcb336	g.chr7:102604004G>A	ENST00000393772.2	-	8	1126	c.700C>T	c.(700-702)Cga>Tga	p.R234*	FBXL13_ENST00000456695.1_Nonsense_Mutation_p.R234*|FBXL13_ENST00000471074.1_5'UTR|FBXL13_ENST00000379308.3_Nonsense_Mutation_p.R234*|FBXL13_ENST00000436908.1_Nonsense_Mutation_p.R234*|FBXL13_ENST00000379306.3_Nonsense_Mutation_p.R234*|FBXL13_ENST00000379305.3_Nonsense_Mutation_p.R234*|FBXL13_ENST00000313221.4_Nonsense_Mutation_p.R234*|FBXL13_ENST00000455112.2_Nonsense_Mutation_p.R234*			Q8NEE6	FXL13_HUMAN	F-box and leucine-rich repeat protein 13	234										NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|skin(3)|stomach(1)	27						GTTTTGGGTCGGAGAAGACAA	0.338													41	154					0	0	1	0	0	A	102604004	G	A	102604004	4	1	478	1	0	0	0	0	0	1	0	0	5742	1124	39	1	1559	1	FBXL13	7	102604004	Nonsense_Mutation	SNP	G	TCGA-TQ-A7RH-01A-12D-A34A-08	52148928	102604004	56534659	18	36916											
GSTK1	373156	broad.mit.edu	37	7	142965221	142965221	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RH-01A-12D-A34A-08	TCGA-TQ-A7RH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92353c63-d5c2-4230-a396-f59612726e28	ec2bcc74-83ae-40d9-84f1-4655f7dcb336	g.chr7:142965221G>A	ENST00000479303.1	+	6	801	c.743G>A	c.(742-744)gGc>gAc	p.G248D	GSTK1_ENST00000409500.3_Missense_Mutation_p.G180D|GSTK1_ENST00000358406.5_Missense_Mutation_p.G192D|AC073342.12_ENST00000427392.1_RNA|GSTK1_ENST00000443571.2_Missense_Mutation_p.G149D	NM_001143679.1	NP_001137151.1	Q9Y2Q3	GSTK1_HUMAN	glutathione S-transferase kappa 1	192						outer membrane-bounded periplasmic space|peroxisome	glutathione transferase activity|identical protein binding|protein disulfide oxidoreductase activity			lung(4)	4	Melanoma(164;0.059)				Glutathione(DB00143)	CATGTGGATGGCCAAACCCAC	0.547													7	800					0	0	1	0	0	A	142965221	G	A	142965221	3	1	478	1	0	0	0	0	1	0	0	0	6877	1203	42	2	765	2	GSTK1	7	142965221	Missense_Mutation	SNP	G	TCGA-TQ-A7RH-01A-12D-A34A-08	40361217	142965221	16173442	19	36917											
OR2F2	135948	broad.mit.edu	37	7	143632509	143632509	+	Missense_Mutation	SNP	T	T	C			TCGA-TQ-A7RH-01A-12D-A34A-08	TCGA-TQ-A7RH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92353c63-d5c2-4230-a396-f59612726e28	ec2bcc74-83ae-40d9-84f1-4655f7dcb336	g.chr7:143632509T>C	ENST00000408955.2	+	1	251	c.184T>C	c.(184-186)Ttt>Ctt	p.F62L		NM_001004685.1	NP_001004685.1	O95006	OR2F2_HUMAN	olfactory receptor, family 2, subfamily F, member 2	62					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F62L(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(19)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	32	Melanoma(164;0.0903)					CATGTATTTCTTTCTCACCAA	0.502													24	455					0	0	1	0	0	C	143632509	T	C	143632509	3	2	478	1	0	0	0	0	1	0	0	0	11045	1609	56	3	186	3	OR2F2	7	143632509	Missense_Mutation	SNP	T	TCGA-TQ-A7RH-01A-12D-A34A-08	667288	143632509	15506154	20	36918											
OR2A7	401427	broad.mit.edu	37	7	143956629	143956629	+	Silent	SNP	G	G	A			TCGA-TQ-A7RH-01A-12D-A34A-08	TCGA-TQ-A7RH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92353c63-d5c2-4230-a396-f59612726e28	ec2bcc74-83ae-40d9-84f1-4655f7dcb336	g.chr7:143956629G>A	ENST00000493325.1	-	1	186	c.93C>T	c.(91-93)tcC>tcT	p.S31S	OR2A1-AS1_ENST00000461843.1_RNA|OR2A1-AS1_ENST00000489488.1_RNA|RP4-545C24.1_ENST00000460955.1_RNA|OR2A1-AS1_ENST00000463561.1_RNA|OR2A1-AS1_ENST00000478806.1_RNA|OR2A1-AS1_ENST00000476560.1_RNA|ARHGEF35_ENST00000543357.1_Intron|OR2A1-AS1_ENST00000487102.1_RNA	NM_001005328.1	NP_001005328.1	Q96R45	OR2A7_HUMAN	olfactory receptor, family 2, subfamily A, member 7	31					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)	6	Melanoma(164;0.14)					CGTAGAACAGGGAGAAGAGCC	0.537													10	263					0	0	1	0	0	A	143956629	G	A	143956629	2	1	478	1	0	0	0	0	0	0	0	1	11030	1219	43	2		2	OR2A7	7	143956629	Silent	SNP	G	TCGA-TQ-A7RH-01A-12D-A34A-08	324120	143956629	15182034	21	36919											
SSPO	23145	broad.mit.edu	37	7	149489293	149489293	+	RNA	SNP	G	G	A			TCGA-TQ-A7RH-01A-12D-A34A-08	TCGA-TQ-A7RH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92353c63-d5c2-4230-a396-f59612726e28	ec2bcc74-83ae-40d9-84f1-4655f7dcb336	g.chr7:149489293G>A	ENST00000378016.2	+	0	5538							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GCGGCAGCCCGGGTAAGGGGG	0.672													5	24					0	0	1	0	0	A	149489293	G	A	149489293	1	1	478	0	1	0	0	0	0	0	0	0	15245	1130	39	1		1	SSPO	7	149489293	RNA	SNP	G	TCGA-TQ-A7RH-01A-12D-A34A-08	5532664	149489293	9649370	22	36920											
SGK223	157285	broad.mit.edu	37	8	8185589	8185589	+	Silent	SNP	G	G	A			TCGA-TQ-A7RH-01A-12D-A34A-08	TCGA-TQ-A7RH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92353c63-d5c2-4230-a396-f59612726e28	ec2bcc74-83ae-40d9-84f1-4655f7dcb336	g.chr8:8185589G>A	ENST00000520004.1	-	5	2967	c.2703C>T	c.(2701-2703)ggC>ggT	p.G901G	SGK223_ENST00000330777.4_Silent_p.G901G			Q86YV5	SG223_HUMAN		901							ATP binding|non-membrane spanning protein tyrosine kinase activity										TCCCGCAGCCGCCTCTGTTGC	0.657													15	222					0	0	1	0	0	A	8185589	G	A	8185589	2	1	478	1	0	0	0	0	0	0	0	1	14264	1074	38	1		1	SGK223	8	8185589	Silent	SNP	G	TCGA-TQ-A7RH-01A-12D-A34A-08		8185589	138178433	23	36921											
CTSB	1508	broad.mit.edu	37	8	11705211	11705211	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RH-01A-12D-A34A-08	TCGA-TQ-A7RH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92353c63-d5c2-4230-a396-f59612726e28	ec2bcc74-83ae-40d9-84f1-4655f7dcb336	g.chr8:11705211G>A	ENST00000353047.6	-	7	906	c.653C>T	c.(652-654)aCc>aTc	p.T218I	CTSB_ENST00000415599.2_3'UTR|CTSB_ENST00000453527.2_Missense_Mutation_p.T218I|CTSB_ENST00000530640.2_Missense_Mutation_p.T218I|CTSB_ENST00000533455.1_Missense_Mutation_p.T218I|CTSB_ENST00000345125.3_Missense_Mutation_p.T218I|CTSB_ENST00000434271.1_Missense_Mutation_p.T218I|CTSB_ENST00000531089.1_Missense_Mutation_p.T218I|CTSB_ENST00000534510.1_Missense_Mutation_p.T218I	NM_001908.3	NP_001899.1	P07858	CATB_HUMAN	cathepsin B	218					proteolysis|regulation of apoptosis|regulation of catalytic activity	lysosome|melanosome	cysteine-type endopeptidase activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(1)	16	all_epithelial(15;0.205)		STAD - Stomach adenocarcinoma(15;0.00546)	COAD - Colon adenocarcinoma(149;0.184)		CTGTTTGTAGGTCGGGCTGTA	0.657													53	141					0	0	1	0	0	A	11705211	G	A	11705211	3	1	478	1	0	0	0	0	1	0	0	0	4054	1261	44	2	382	2	CTSB	8	11705211	Missense_Mutation	SNP	G	TCGA-TQ-A7RH-01A-12D-A34A-08	3519622	11705211	134658811	24	36922											
CYHR1	50626	broad.mit.edu	37	8	145690245	145690245	+	Missense_Mutation	SNP	A	A	C			TCGA-TQ-A7RH-01A-12D-A34A-08	TCGA-TQ-A7RH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92353c63-d5c2-4230-a396-f59612726e28	ec2bcc74-83ae-40d9-84f1-4655f7dcb336	g.chr8:145690245A>C	ENST00000438911.2	-	1	173	c.40T>G	c.(40-42)Tcc>Gcc	p.S14A	CTD-2517M22.16_ENST00000525461.1_RNA|CYHR1_ENST00000424149.2_Missense_Mutation_p.S14A|CYHR1_ENST00000403000.2_Missense_Mutation_p.S14A|CYHR1_ENST00000306145.5_Missense_Mutation_p.S14A	NM_138496.1	NP_612505.1	Q6ZMK1	CYHR1_HUMAN	cysteine/histidine-rich 1	14						perinuclear region of cytoplasm	zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|lung(3)|ovary(2)	7	all_cancers(97;4.61e-11)|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;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)			ACCAGATGGGACAGGGCTGTG	0.622													10	34					0	0	1	0	0	C	145690245	A	C	145690245	3	2	478	1	0	0	0	0	1	0	0	0	4163	275	10	5	1401	5	CYHR1	8	145690245	Missense_Mutation	SNP	A	TCGA-TQ-A7RH-01A-12D-A34A-08	133985034	145690245	673777	25	36923											
CDKN2A	1029	broad.mit.edu	37	9	21971029	21971029	+	Nonsense_Mutation	SNP	C	C	T			TCGA-TQ-A7RH-01A-12D-A34A-08	TCGA-TQ-A7RH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92353c63-d5c2-4230-a396-f59612726e28	ec2bcc74-83ae-40d9-84f1-4655f7dcb336	g.chr9:21971029C>T	ENST00000304494.5	-	2	599	c.329G>A	c.(328-330)tGg>tAg	p.W110*	RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000361570.3_Silent_p.L165L|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.W59*|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.W59*|CDKN2A_ENST00000579755.1_Silent_p.L124L|CDKN2A_ENST00000530628.2_Silent_p.L124L|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.W59*|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.W59*|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.W110*|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.W110*|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.W110*|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.W59*	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	110					cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(44)|p.W110*(13)|p.L165L(2)|p.H83fs*2(2)|p.D105fs*8(1)|p.0(1)|p.A68fs*3(1)|p.R107fs*33(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CAGACGGCCCCAGGCATCGCG	0.731		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			6	44					0	0	1	0	0	T	21971029	C	T	21971029	4	4	478	1	0	0	0	0	0	1	0	0	3183	595	21	2	149	2	CDKN2A	9	21971029	Nonsense_Mutation	SNP	C	TCGA-TQ-A7RH-01A-12D-A34A-08		21971029	119242402	26	36924											
NOL8	55035	broad.mit.edu	37	9	95081532	95081532	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RH-01A-12D-A34A-08	TCGA-TQ-A7RH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92353c63-d5c2-4230-a396-f59612726e28	ec2bcc74-83ae-40d9-84f1-4655f7dcb336	g.chr9:95081532C>T	ENST00000545558.1	-	5	880	c.388G>A	c.(388-390)Gtg>Atg	p.V130M	NOL8_ENST00000358855.4_Missense_Mutation_p.V62M|NOL8_ENST00000535387.1_Missense_Mutation_p.V130M|NOL8_ENST00000442668.2_Missense_Mutation_p.V130M|NOL8_ENST00000542053.1_Missense_Mutation_p.V62M			Q76FK4	NOL8_HUMAN	nucleolar protein 8	130					DNA replication|positive regulation of cell growth	nucleolus	nucleotide binding|protein binding|RNA binding			endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	16						GTCCCTGGCACAGCTTTCATA	0.468													16	30					0	0	1	0	0	T	95081532	C	T	95081532	3	4	478	1	0	0	0	0	1	0	0	0	10574	478	17	2	3167	2	NOL8	9	95081532	Missense_Mutation	SNP	C	TCGA-TQ-A7RH-01A-12D-A34A-08	73110503	95081532	46131899	27	36925											
PRDM12	59335	broad.mit.edu	37	9	133553963	133553963	+	Missense_Mutation	SNP	C	C	A			TCGA-TQ-A7RH-01A-12D-A34A-08	TCGA-TQ-A7RH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92353c63-d5c2-4230-a396-f59612726e28	ec2bcc74-83ae-40d9-84f1-4655f7dcb336	g.chr9:133553963C>A	ENST00000253008.2	+	4	678	c.618C>A	c.(616-618)caC>caA	p.H206Q		NM_021619.2	NP_067632.2	Q9H4Q4	PRD12_HUMAN	PR domain containing 12	206	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(2)|large_intestine(3)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	11		all_hematologic(13;0.0433)|Acute lymphoblastic leukemia(5;0.0534)		OV - Ovarian serous cystadenocarcinoma(145;0.000344)		GAAACTCACACAACACCTTCC	0.592													4	93					0.00024832	0.00027797	1	1	0	A	133553963	C	A	133553963	3	1	478	1	0	0	0	0	1	0	0	0	12505	477	17	5	632	5	PRDM12	9	133553963	Missense_Mutation	SNP	C	TCGA-TQ-A7RH-01A-12D-A34A-08	38472431	133553963	7659468	28	36926											
LAMC3	10319	broad.mit.edu	37	9	133884973	133884973	+	Splice_Site	DEL	A	A	-	rs35774154		TCGA-TQ-A7RH-01A-12D-A34A-08	TCGA-TQ-A7RH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92353c63-d5c2-4230-a396-f59612726e28	ec2bcc74-83ae-40d9-84f1-4655f7dcb336	g.chr9:133884973delA	ENST00000361069.4	+	1	505	c.372delA	c.(370-372)cta>ct	p.L124fs	LAMC3_ENST00000480883.1_3'UTR	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	124	Laminin N-terminal.				cell adhesion	basement membrane|membrane	structural molecule activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		CCCTCCGCCTAGGTAAGCGCG	0.687													2	4	---	---	---	---						-	133884973	A	-	133884973	8	5	478	1	0	1	0	1	0	0	1	0	8655	434	15	0	374	0	LAMC3	9	133884973	Splice_Site	DEL	A	TCGA-TQ-A7RH-01A-12D-A34A-08	331010	133884973	7328458	29	36927											
CDC123	8872	broad.mit.edu	37	10	12238281	12238281	+	Missense_Mutation	SNP	G	G	C			TCGA-TQ-A7RH-01A-12D-A34A-08	TCGA-TQ-A7RH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92353c63-d5c2-4230-a396-f59612726e28	ec2bcc74-83ae-40d9-84f1-4655f7dcb336	g.chr10:12238281G>C	ENST00000281141.4	+	1	317	c.37G>C	c.(37-39)Gcg>Ccg	p.A13P	CDC123_ENST00000455773.3_3'UTR|CDC123_ENST00000378900.2_Missense_Mutation_p.A13P	NM_006023.2	NP_006014.2	O75794	CD123_HUMAN	cell division cycle 123	13					cell cycle arrest|cell division|positive regulation of cell proliferation|regulation of mitotic cell cycle	cytoplasm				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12						CCAGTTCTCCGCGTGGTACCC	0.622													10	142					0	0	1	0	0	C	12238281	G	C	12238281	3	2	478	1	0	0	0	0	1	0	0	0	3077	1087	38	5	39	5	CDC123	10	12238281	Missense_Mutation	SNP	G	TCGA-TQ-A7RH-01A-12D-A34A-08		12238281	123296466	30	36928											
TMEM26	219623	broad.mit.edu	37	10	63170316	63170316	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RH-01A-12D-A34A-08	TCGA-TQ-A7RH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92353c63-d5c2-4230-a396-f59612726e28	ec2bcc74-83ae-40d9-84f1-4655f7dcb336	g.chr10:63170316C>T	ENST00000399298.3	-	6	1239	c.871G>A	c.(871-873)Gcg>Acg	p.A291T	TMEM26_ENST00000507507.1_5'UTR	NM_178505.6	NP_848600.2	Q6ZUK4	TMM26_HUMAN	transmembrane protein 26	291						integral to membrane				kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	18	Prostate(12;0.0112)					AAGTTCTTCGCGGCAAAGAAC	0.512													26	48					0	0	1	0	0	T	63170316	C	T	63170316	3	4	478	1	0	0	0	0	1	0	0	0	16211	768	27	1	239	1	TMEM26	10	63170316	Missense_Mutation	SNP	C	TCGA-TQ-A7RH-01A-12D-A34A-08	50932035	63170316	72364431	31	36929											
ZMIZ1	57178	broad.mit.edu	37	10	81052006	81052026	+	In_Frame_Del	DEL	GCAGCAGCGGCAGTGGCAGCA	GCAGCAGCGGCAGTGGCAGCA	-			TCGA-TQ-A7RH-01A-12D-A34A-08	TCGA-TQ-A7RH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92353c63-d5c2-4230-a396-f59612726e28	ec2bcc74-83ae-40d9-84f1-4655f7dcb336	g.chr10:81052006_81052026delGCAGCAGCGGCAGTGGCAGCA	ENST00000334512.5	+	11	1422_1442	c.850_870delGCAGCAGCGGCAGTGGCAGCA	c.(850-870)gcagcagcggcagtggcagcadel	p.AAAAVAA284del	ZMIZ1_ENST00000478357.1_3'UTR	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	284	Ala-rich.				transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			ggcagccgctgcagcagcggcagtggcagcagcagcagcCA	0.652													37	100	---	---	---	---						-	81052026	GCAGCAGCGGCAGTGGCAGCA	-	81052006	7	5	478	1	0	1	0	1	0	0	0	0	17754	1319	46	0	876	0	ZMIZ1	10	81052006	In_Frame_Del	DEL	GCAGCAGCGGCAGTGGCAGCA	TCGA-TQ-A7RH-01A-12D-A34A-08	17881690	81052006	54482741	32	36930											
FAM178A	55719	broad.mit.edu	37	10	102698451	102698451	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RH-01A-12D-A34A-08	TCGA-TQ-A7RH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92353c63-d5c2-4230-a396-f59612726e28	ec2bcc74-83ae-40d9-84f1-4655f7dcb336	g.chr10:102698451C>T	ENST00000238961.4	+	11	3154	c.2612C>T	c.(2611-2613)cCc>cTc	p.P871L	FAM178A_ENST00000370269.3_Missense_Mutation_p.P871L	NM_018121.3	NP_060591.3	Q8IX21	F178A_HUMAN	family with sequence similarity 178, member A																		TCTTTGTTTCCCCTGGAGAAT	0.368													12	159					0	0	1	0	0	T	102698451	C	T	102698451	3	4	478	1	0	0	0	0	1	0	0	0	5533	623	22	2	2654	2	FAM178A	10	102698451	Missense_Mutation	SNP	C	TCGA-TQ-A7RH-01A-12D-A34A-08	21646445	102698451	32836296	33	36931											
DCLRE1A	9937	broad.mit.edu	37	10	115609945	115609945	+	Nonsense_Mutation	SNP	C	C	A			TCGA-TQ-A7RH-01A-12D-A34A-08	TCGA-TQ-A7RH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92353c63-d5c2-4230-a396-f59612726e28	ec2bcc74-83ae-40d9-84f1-4655f7dcb336	g.chr10:115609945C>A	ENST00000361384.2	-	2	1836	c.919G>T	c.(919-921)Gaa>Taa	p.E307*	DCLRE1A_ENST00000369305.1_Nonsense_Mutation_p.E307*	NM_014881.3	NP_055696.3	Q6PJP8	DCR1A_HUMAN	DNA cross-link repair 1A	307					cell division|mitosis	nucleus	hydrolase activity	p.E307*(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(2)|urinary_tract(1)	31				Epithelial(162;0.0157)|all cancers(201;0.0171)		TGAGTGTCTTCATCACTTTGA	0.398								Other identified genes with known or suspected DNA repair function					65	118					3.30712e-30	4.00055e-30	1	1	0	A	115609945	C	A	115609945	4	1	478	1	0	0	0	0	0	1	0	0	4317	835	29	5	2235	5	DCLRE1A	10	115609945	Nonsense_Mutation	SNP	C	TCGA-TQ-A7RH-01A-12D-A34A-08	12911494	115609945	19924802	34	36932											
CYP2E1	1571	broad.mit.edu	37	10	135352317	135352317	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RH-01A-12D-A34A-08	TCGA-TQ-A7RH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92353c63-d5c2-4230-a396-f59612726e28	ec2bcc74-83ae-40d9-84f1-4655f7dcb336	g.chr10:135352317G>A	ENST00000463117.2	+	11	1603	c.1331G>A	c.(1330-1332)cGc>cAc	p.R444H	CYP2E1_ENST00000252945.3_Missense_Mutation_p.R444H|SPRN_ENST00000541506.1_Intron			P05181	CP2E1_HUMAN	cytochrome P450, family 2, subfamily E, polypeptide 1	444					drug metabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding			NS(1)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(7)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)	Acetaminophen(DB00316)|Chlorzoxazone(DB00356)|Cinnarizine(DB00568)|Clofibrate(DB00636)|Dacarbazine(DB00851)|Dapsone(DB00250)|Enflurane(DB00228)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethosuximide(DB00593)|Fomepizole(DB01213)|Glutathione(DB00143)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Isoniazid(DB00951)|Menadione(DB00170)|Mephenytoin(DB00532)|Methoxyflurane(DB01028)|Midazolam(DB00683)|Mitoxantrone(DB01204)|Nicotine(DB00184)|Nifedipine(DB01115)|Nitrofurantoin(DB00698)|Orphenadrine(DB01173)|Phenelzine(DB00780)|Quinidine(DB00908)|S-Adenosylmethionine(DB00118)|Sevoflurane(DB01236)|Theophylline(DB00277)|Tolbutamide(DB01124)	GGCCTGGCTCGCATGGAGTTG	0.448									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of				8	493					0	0	1	0	0	A	135352317	G	A	135352317	3	1	478	1	0	0	0	0	1	0	0	0	4193	1087	38	1	1365	1	CYP2E1	10	135352317	Missense_Mutation	SNP	G	TCGA-TQ-A7RH-01A-12D-A34A-08	19742372	135352317	182430	35	36933											
OR51S1	119692	broad.mit.edu	37	11	4869860	4869860	+	Silent	SNP	A	A	T			TCGA-TQ-A7RH-01A-12D-A34A-08	TCGA-TQ-A7RH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92353c63-d5c2-4230-a396-f59612726e28	ec2bcc74-83ae-40d9-84f1-4655f7dcb336	g.chr11:4869860A>T	ENST00000322101.2	-	1	654	c.579T>A	c.(577-579)gcT>gcA	p.A193A	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001004758.1	NP_001004758.1	Q8NGJ8	O51S1_HUMAN	olfactory receptor, family 51, subfamily S, member 1	193					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		AGGCCAAACGAGCCACATCTG	0.557													8	68					0	0	1	0	0	T	4869860	A	T	4869860	2	4	478	1	0	0	0	0	0	0	0	1	11153	291	11	5		5	OR51S1	11	4869860	Silent	SNP	A	TCGA-TQ-A7RH-01A-12D-A34A-08		4869860	130136656	36	36934											
OR4A16	81327	broad.mit.edu	37	11	55111566	55111566	+	Missense_Mutation	SNP	A	A	G			TCGA-TQ-A7RH-01A-12D-A34A-08	TCGA-TQ-A7RH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92353c63-d5c2-4230-a396-f59612726e28	ec2bcc74-83ae-40d9-84f1-4655f7dcb336	g.chr11:55111566A>G	ENST00000314721.2	+	1	940	c.890A>G	c.(889-891)aAa>aGa	p.K297R		NM_001005274.1	NP_001005274.1	Q8NH70	O4A16_HUMAN	olfactory receptor, family 4, subfamily A, member 16	297					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						AATGCTATGAAAAATCTCTGG	0.313													23	36					0	0	1	0	0	G	55111566	A	G	55111566	3	3	478	1	0	0	0	0	1	0	0	0	11089	14	1	3	892	3	OR4A16	11	55111566	Missense_Mutation	SNP	A	TCGA-TQ-A7RH-01A-12D-A34A-08	50241706	55111566	79894950	37	36935			1	50		2	2	40	N	G_A	8.314483e-05
OR4A16	81327	broad.mit.edu	37	11	55111605	55111605	+	Missense_Mutation	SNP	G	G	T			TCGA-TQ-A7RH-01A-12D-A34A-08	TCGA-TQ-A7RH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92353c63-d5c2-4230-a396-f59612726e28	ec2bcc74-83ae-40d9-84f1-4655f7dcb336	g.chr11:55111605G>T	ENST00000314721.2	+	1	979	c.929G>T	c.(928-930)aGa>aTa	p.R310I		NM_001005274.1	NP_001005274.1	Q8NH70	O4A16_HUMAN	olfactory receptor, family 4, subfamily A, member 16	310					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						GTTAGAAAAAGAGTATCTCCC	0.348													15	35					1.15088e-07	1.32794e-07	1	1	0	T	55111605	G	T	55111605	3	4	478	1	0	0	0	0	1	0	0	0	11089	942	33	4	931	4	OR4A16	11	55111605	Missense_Mutation	SNP	G	TCGA-TQ-A7RH-01A-12D-A34A-08	39	55111605	79894911	38	36936			1	50		2	2	40	N	G_A	8.314483e-05
CCDC153	283152	broad.mit.edu	37	11	119061065	119061065	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RH-01A-12D-A34A-08	TCGA-TQ-A7RH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92353c63-d5c2-4230-a396-f59612726e28	ec2bcc74-83ae-40d9-84f1-4655f7dcb336	g.chr11:119061065G>A	ENST00000503566.2	-	6	576	c.577C>T	c.(577-579)Cgc>Tgc	p.R193C	CCDC153_ENST00000415318.1_Missense_Mutation_p.R193C			Q494R4	CC153_HUMAN	coiled-coil domain containing 153	193										lung(3)|stomach(1)	4						CCAAACTGGCGTTGCTGCTCC	0.572													59	94					0	0	1	0	0	A	119061065	G	A	119061065	3	1	478	1	0	0	0	0	1	0	0	0	2806	1145	40	1	59	1	CCDC153	11	119061065	Missense_Mutation	SNP	G	TCGA-TQ-A7RH-01A-12D-A34A-08	63949460	119061065	15945451	39	36937											
CD163	9332	broad.mit.edu	37	12	7635291	7635291	+	Silent	SNP	G	G	A			TCGA-TQ-A7RH-01A-12D-A34A-08	TCGA-TQ-A7RH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92353c63-d5c2-4230-a396-f59612726e28	ec2bcc74-83ae-40d9-84f1-4655f7dcb336	g.chr12:7635291G>A	ENST00000359156.4	-	14	3397	c.3195C>T	c.(3193-3195)ttC>ttT	p.F1065F	CD163_ENST00000432237.2_Silent_p.F1065F|CD163_ENST00000396620.3_Silent_p.F1098F|CD163_ENST00000541972.1_Silent_p.F1053F	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	1065					acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						ATAATGCGACGAAAATGGCCA	0.423													9	204					0	0	1	0	0	A	7635291	G	A	7635291	2	1	478	1	0	0	0	0	0	0	0	1	2989	1049	37	1		1	CD163	12	7635291	Silent	SNP	G	TCGA-TQ-A7RH-01A-12D-A34A-08		7635291	126216604	40	36938											
H1FNT	341567	broad.mit.edu	37	12	48723559	48723559	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RH-01A-12D-A34A-08	TCGA-TQ-A7RH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92353c63-d5c2-4230-a396-f59612726e28	ec2bcc74-83ae-40d9-84f1-4655f7dcb336	g.chr12:48723559G>A	ENST00000335017.1	+	1	797	c.485G>A	c.(484-486)cGc>cAc	p.R162H		NM_181788.1	NP_861453.1	Q75WM6	H1FNT_HUMAN	H1 histone family, member N, testis-specific	162	Arg-rich.				chromosome condensation|multicellular organismal development|sperm chromatin condensation|spermatid nucleus elongation	nuclear chromatin	ATP binding|DNA binding			endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	13						CAGCCCCTTCGCAAGGCGGCC	0.716													3	4					0	0	1	0	0	A	48723559	G	A	48723559	3	1	478	1	0	0	0	0	1	0	0	0	6962	1087	38	1	487	1	H1FNT	12	48723559	Missense_Mutation	SNP	G	TCGA-TQ-A7RH-01A-12D-A34A-08	41088268	48723559	85128336	41	36939											
SART3	9733	broad.mit.edu	37	12	108920291	108920291	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RH-01A-12D-A34A-08	TCGA-TQ-A7RH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92353c63-d5c2-4230-a396-f59612726e28	ec2bcc74-83ae-40d9-84f1-4655f7dcb336	g.chr12:108920291G>A	ENST00000228284.3	-	16	2189	c.1955C>T	c.(1954-1956)cCt>cTt	p.P652L	SART3_ENST00000431469.2_Missense_Mutation_p.P616L	NM_014706.3	NP_055521.1	Q15020	SART3_HUMAN	squamous cell carcinoma antigen recognized by T cells 3	652	Required for nuclear localization.				RNA processing	cytoplasm|nuclear speck	nucleotide binding|protein binding|RNA binding			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|stomach(1)	25						TCCAGCTGCAGGGATGCTGTT	0.507									Porokeratosis				7	149					0	0	1	0	0	A	108920291	G	A	108920291	3	1	478	1	0	0	0	0	1	0	0	0	13900	1000	35	2	952	2	SART3	12	108920291	Missense_Mutation	SNP	G	TCGA-TQ-A7RH-01A-12D-A34A-08	60196732	108920291	24931604	42	36940											
CENPJ	55835	broad.mit.edu	37	13	25486740	25486740	+	Missense_Mutation	SNP	G	G	T			TCGA-TQ-A7RH-01A-12D-A34A-08	TCGA-TQ-A7RH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92353c63-d5c2-4230-a396-f59612726e28	ec2bcc74-83ae-40d9-84f1-4655f7dcb336	g.chr13:25486740G>T	ENST00000381884.4	-	2	609	c.424C>A	c.(424-426)Ctt>Att	p.L142I	CENPJ_ENST00000545981.1_Missense_Mutation_p.L142I	NM_018451.4	NP_060921.3	Q9HC77	CENPJ_HUMAN	centromere protein J	142					cell division|centriole replication|G2/M transition of mitotic cell cycle|microtubule nucleation|microtubule polymerization	centriole|cytosol|gamma-tubulin small complex|microtubule	protein domain specific binding|tubulin binding			endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)		TTTTTAAAAAGTGGGTCTTTA	0.388													8	94					0.0809354	0.0831528	1	1	0	T	25486740	G	T	25486740	3	4	478	1	0	0	0	0	1	0	0	0	3256	1029	36	4	3656	4	CENPJ	13	25486740	Missense_Mutation	SNP	G	TCGA-TQ-A7RH-01A-12D-A34A-08		25486740	89683138	43	36941											
ADPRHL1	113622	broad.mit.edu	37	13	114107558	114107558	+	Silent	SNP	G	G	A			TCGA-TQ-A7RH-01A-12D-A34A-08	TCGA-TQ-A7RH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92353c63-d5c2-4230-a396-f59612726e28	ec2bcc74-83ae-40d9-84f1-4655f7dcb336	g.chr13:114107558G>A	ENST00000375418.3	-	1	281	c.195C>T	c.(193-195)acC>acT	p.T65T		NM_138430.3	NP_612439.2	Q8NDY3	ARHL1_HUMAN	ADP-ribosylhydrolase like 1	65					protein de-ADP-ribosylation		ADP-ribosylarginine hydrolase activity|magnesium ion binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	11	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0395)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.0195)|GBM - Glioblastoma multiforme(44;0.116)			GGGCCTCGGCGGTTGCGATGT	0.647													41	17					0	0	1	0	0	A	114107558	G	A	114107558	2	1	478	1	0	0	0	0	0	0	0	1	331	1103	39	1		1	ADPRHL1	13	114107558	Silent	SNP	G	TCGA-TQ-A7RH-01A-12D-A34A-08	88620818	114107558	1062320	44	36942											
AQR	9716	broad.mit.edu	37	15	35193058	35193058	+	Silent	SNP	G	G	A			TCGA-TQ-A7RH-01A-12D-A34A-08	TCGA-TQ-A7RH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92353c63-d5c2-4230-a396-f59612726e28	ec2bcc74-83ae-40d9-84f1-4655f7dcb336	g.chr15:35193058G>A	ENST00000156471.5	-	20	2233	c.2008C>T	c.(2008-2010)Ctg>Ttg	p.L670L		NM_014691.2	NP_055506.1	O60306	AQR_HUMAN	aquarius intron-binding spliceosomal factor	670						catalytic step 2 spliceosome	RNA binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	57		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)		ATAGTCTCCAGCACAGCCTGT	0.438													4	90					0	0	1	0	0	A	35193058	G	A	35193058	2	1	478	1	0	0	0	0	0	0	0	1	832	962	34	2		2	AQR	15	35193058	Silent	SNP	G	TCGA-TQ-A7RH-01A-12D-A34A-08		35193058	67338334	45	36943											
UNKL	64718	broad.mit.edu	37	16	1417745	1417745	+	Frame_Shift_Del	DEL	C	C	-			TCGA-TQ-A7RH-01A-12D-A34A-08	TCGA-TQ-A7RH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92353c63-d5c2-4230-a396-f59612726e28	ec2bcc74-83ae-40d9-84f1-4655f7dcb336	g.chr16:1417745delC	ENST00000389221.4	-	13	1690	c.1691delG	c.(1690-1692)ggafs	p.G564fs	UNKL_ENST00000391893.2_Frame_Shift_Del_p.G63fs|UNKL_ENST00000248104.7_Frame_Shift_Del_p.G63fs|UNKL_ENST00000402641.2_Frame_Shift_Del_p.G66fs|UNKL_ENST00000403703.1_Frame_Shift_Del_p.G66fs|UNKL_ENST00000397464.1_Frame_Shift_Del_p.G66fs|UNKL_ENST00000508903.2_Frame_Shift_Del_p.G567fs	NM_001193388.1	NP_001180317	Q9H9P5	UNKL_HUMAN	unkempt family zinc finger-like	564						cytoplasm|nucleus	ligase activity|nucleic acid binding|zinc ion binding			autonomic_ganglia(1)|endometrium(1)|large_intestine(1)|lung(1)	4		Hepatocellular(780;0.0893)				CAGCTCAGCTCCGTTTGGACT	0.657													2	4	---	---	---	---						-	1417745	C	-	1417745	7	5	478	1	0	1	0	1	0	0	0	0	17061	855	30	0	513	0	UNKL	16	1417745	Frame_Shift_Del	DEL	C	TCGA-TQ-A7RH-01A-12D-A34A-08		1417745	88937008	46	36944											
ZNF668	79759	broad.mit.edu	37	16	31072792	31072792	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RH-01A-12D-A34A-08	TCGA-TQ-A7RH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92353c63-d5c2-4230-a396-f59612726e28	ec2bcc74-83ae-40d9-84f1-4655f7dcb336	g.chr16:31072792C>T	ENST00000538906.1	-	3	2241	c.1457G>A	c.(1456-1458)tGc>tAc	p.C486Y	ZNF668_ENST00000539836.3_Missense_Mutation_p.C509Y|ZNF668_ENST00000535577.1_Missense_Mutation_p.C486Y|ZNF668_ENST00000300849.4_Missense_Mutation_p.C486Y|ZNF668_ENST00000394983.2_Missense_Mutation_p.C486Y|ZNF668_ENST00000426488.2_Missense_Mutation_p.C509Y	NM_001172668.1	NP_001166139	Q96K58	ZN668_HUMAN	zinc finger protein 668	486					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						AGCATCTTGGCATTCCACATG	0.672													39	76					0	0	1	0	0	T	31072792	C	T	31072792	3	4	478	1	0	0	0	0	1	0	0	0	18132	710	25	2	406	2	ZNF668	16	31072792	Missense_Mutation	SNP	C	TCGA-TQ-A7RH-01A-12D-A34A-08	29655047	31072792	59281961	47	36945											
ABCC12	94160	broad.mit.edu	37	16	48117859	48117859	+	Silent	SNP	A	A	G			TCGA-TQ-A7RH-01A-12D-A34A-08	TCGA-TQ-A7RH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92353c63-d5c2-4230-a396-f59612726e28	ec2bcc74-83ae-40d9-84f1-4655f7dcb336	g.chr16:48117859A>G	ENST00000311303.3	-	28	4299	c.3954T>C	c.(3952-3954)gtT>gtC	p.V1318V	ABCC12_ENST00000416054.1_3'UTR|ABCC12_ENST00000448542.1_3'UTR	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	1318	ABC transporter 2.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				CGCAGTTGAGAACTGTGTTGA	0.512													42	57					0	0	1	0	0	G	48117859	A	G	48117859	2	3	478	1	0	0	0	0	0	0	0	1	52	233	9	3		3	ABCC12	16	48117859	Silent	SNP	A	TCGA-TQ-A7RH-01A-12D-A34A-08	17045067	48117859	42236894	48	36946											
ZZEF1	23140	broad.mit.edu	37	17	3974138	3974138	+	Silent	SNP	C	C	A			TCGA-TQ-A7RH-01A-12D-A34A-08	TCGA-TQ-A7RH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92353c63-d5c2-4230-a396-f59612726e28	ec2bcc74-83ae-40d9-84f1-4655f7dcb336	g.chr17:3974138C>A	ENST00000381638.2	-	26	4039	c.3915G>T	c.(3913-3915)ggG>ggT	p.G1305G		NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	1305							calcium ion binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						CTGAATATGGCCCACAGAAGT	0.438													61	93					4.96213e-28	5.9073e-28	1	1	0	A	3974138	C	A	3974138	2	1	478	1	0	0	0	0	0	0	0	1	18295	726	26	5		5	ZZEF1	17	3974138	Silent	SNP	C	TCGA-TQ-A7RH-01A-12D-A34A-08		3974138	77221072	49	36947											
ZMYND15	84225	broad.mit.edu	37	17	4644908	4644908	+	Missense_Mutation	SNP	A	A	T			TCGA-TQ-A7RH-01A-12D-A34A-08	TCGA-TQ-A7RH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92353c63-d5c2-4230-a396-f59612726e28	ec2bcc74-83ae-40d9-84f1-4655f7dcb336	g.chr17:4644908A>T	ENST00000433935.1	+	3	681	c.624A>T	c.(622-624)ttA>ttT	p.L208F	ZMYND15_ENST00000269289.6_Missense_Mutation_p.L208F|ZMYND15_ENST00000573751.2_Missense_Mutation_p.L208F|ZMYND15_ENST00000592813.1_Missense_Mutation_p.L208F	NM_001136046.2|NM_001267822.1	NP_001129518.1|NP_001254751.1	Q9H091	ZMY15_HUMAN	zinc finger, MYND-type containing 15	208							zinc ion binding			endometrium(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)	18						CCTGTCTCTTACTTGTGACGG	0.582													7	321					0	0	1	0	0	T	4644908	A	T	4644908	3	4	478	1	0	0	0	0	1	0	0	0	17766	388	14	5	630	5	ZMYND15	17	4644908	Missense_Mutation	SNP	A	TCGA-TQ-A7RH-01A-12D-A34A-08	670770	4644908	76550302	50	36948											
TP53	7157	broad.mit.edu	37	17	7578413	7578413	+	Missense_Mutation	SNP	C	C	A			TCGA-TQ-A7RH-01A-12D-A34A-08	TCGA-TQ-A7RH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92353c63-d5c2-4230-a396-f59612726e28	ec2bcc74-83ae-40d9-84f1-4655f7dcb336	g.chr17:7578413C>A	ENST00000420246.2	-	5	649	c.517G>T	c.(517-519)Gtg>Ttg	p.V173L	TP53_ENST00000574684.1_5'UTR|TP53_ENST00000455263.2_Missense_Mutation_p.V173L|TP53_ENST00000269305.4_Missense_Mutation_p.V173L|TP53_ENST00000359597.4_Missense_Mutation_p.V173L|TP53_ENST00000413465.2_Missense_Mutation_p.V173L|TP53_ENST00000445888.2_Missense_Mutation_p.V173L	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	173	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		V -> A (in sporadic cancers; somatic mutation).|V -> E (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).|V -> M (in LFS; germline mutation and in sporadic cancers; somatic mutation).|V -> W (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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.V173L(68)|p.V173M(46)|p.0?(8)|p.V80L(6)|p.V41L(6)|p.V173fs*1(4)|p.V80M(3)|p.V41M(3)|p.V173fs*59(2)|p.V157_C176del20(1)|p.V172_R174delVVR(1)|p.V173fs*69(1)|p.P151_V173del23(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.E171fs*1(1)|p.V173W(1)|p.V173fs*8(1)|p.H168fs*69(1)|p.E171_H179delEVVRRCPHH(1)|p.S149fs*72(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)		CAGCGCCTCACAACCTCCGTC	0.662		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)			78	17					9.35349e-44	1.15002e-43	1	1	0	A	7578413	C	A	7578413	3	1	478	1	0	0	0	0	1	0	0	0	16442	478	17	5	781	5	TP53	17	7578413	Missense_Mutation	SNP	C	TCGA-TQ-A7RH-01A-12D-A34A-08	2933505	7578413	73616797	51	36949											
FLOT2	2319	broad.mit.edu	37	17	27207790	27207790	+	Nonsense_Mutation	SNP	G	G	A			TCGA-TQ-A7RH-01A-12D-A34A-08	TCGA-TQ-A7RH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92353c63-d5c2-4230-a396-f59612726e28	ec2bcc74-83ae-40d9-84f1-4655f7dcb336	g.chr17:27207790G>A	ENST00000394906.2	-	12	1431	c.1354C>T	c.(1354-1356)Cga>Tga	p.R452*	FLOT2_ENST00000394908.4_Nonsense_Mutation_p.R397*|FLOT2_ENST00000585169.1_Nonsense_Mutation_p.R397*|FLOT2_ENST00000577789.1_5'UTR			Q14254	FLOT2_HUMAN	flotillin 2	397					cell adhesion|epidermis development	cell surface|endocytic vesicle|endosome|membrane fraction				endometrium(3)|lung(6)|prostate(1)|urinary_tract(1)	11	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		Epithelial(11;3.26e-06)|all cancers(11;1.76e-05)|BRCA - Breast invasive adenocarcinoma(11;0.00015)|OV - Ovarian serous cystadenocarcinoma(11;0.0602)			GCCAGCAGTCGGTTCACTTCT	0.572													11	100					0	0	1	0	0	A	27207790	G	A	27207790	4	1	478	1	0	0	0	0	0	1	0	0	5970	1124	39	1	105	1	FLOT2	17	27207790	Nonsense_Mutation	SNP	G	TCGA-TQ-A7RH-01A-12D-A34A-08	19629377	27207790	53987420	52	36950											
TOP2A	7153	broad.mit.edu	37	17	38564814	38564814	+	Missense_Mutation	SNP	G	G	T			TCGA-TQ-A7RH-01A-12D-A34A-08	TCGA-TQ-A7RH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92353c63-d5c2-4230-a396-f59612726e28	ec2bcc74-83ae-40d9-84f1-4655f7dcb336	g.chr17:38564814G>T	ENST00000423485.1	-	11	1430	c.1272C>A	c.(1270-1272)aaC>aaA	p.N424K		NM_001067.3	NP_001058.2	P11388	TOP2A_HUMAN	topoisomerase (DNA) II alpha 170kDa	424					apoptotic chromosome condensation|DNA ligation|DNA repair|DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|phosphatidylinositol-mediated signaling|positive regulation of apoptosis|positive regulation of retroviral genome replication|resolution of meiotic recombination intermediates|sister chromatid segregation	cytoplasm|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|drug binding|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity|ubiquitin binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(9)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	39		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00183)		Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Gatifloxacin(DB01044)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385)	AACACTTCTTGTTTAACTGGA	0.363													4	83					0.00909568	0.00974537	1	1	0	T	38564814	G	T	38564814	3	4	478	1	0	0	0	0	1	0	0	0	16426	1368	48	5	3423	5	TOP2A	17	38564814	Missense_Mutation	SNP	G	TCGA-TQ-A7RH-01A-12D-A34A-08	11357024	38564814	42630396	53	36951											
AOC3	8639	broad.mit.edu	37	17	41004014	41004014	+	Silent	SNP	G	G	A			TCGA-TQ-A7RH-01A-12D-A34A-08	TCGA-TQ-A7RH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92353c63-d5c2-4230-a396-f59612726e28	ec2bcc74-83ae-40d9-84f1-4655f7dcb336	g.chr17:41004014G>A	ENST00000308423.2	+	1	814	c.654G>A	c.(652-654)ctG>ctA	p.L218L		NM_003734.2	NP_003725.1	Q16853	AOC3_HUMAN	amine oxidase, copper containing 3	218					amine metabolic process|cell adhesion|inflammatory response	cell surface|integral to membrane|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|protein homodimerization activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity			breast(1)|central_nervous_system(4)|endometrium(4)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|skin(8)	41		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)	Hydralazine(DB01275)|Phenelzine(DB00780)	CCCGTGGTCTGCAATCAGGGG	0.607													26	69					0	0	1	0	0	A	41004014	G	A	41004014	2	1	478	1	0	0	0	0	0	0	0	1	724	1306	46	2		2	AOC3	17	41004014	Silent	SNP	G	TCGA-TQ-A7RH-01A-12D-A34A-08	2439200	41004014	40191196	54	36952											
UNK	85451	broad.mit.edu	37	17	73780866	73780866	+	Frame_Shift_Del	DEL	T	T	-			TCGA-TQ-A7RH-01A-12D-A34A-08	TCGA-TQ-A7RH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92353c63-d5c2-4230-a396-f59612726e28	ec2bcc74-83ae-40d9-84f1-4655f7dcb336	g.chr17:73780866delT	ENST00000293218.3	+	2	133	c.133delT	c.(133-135)ttcfs	p.F45fs	UNK_ENST00000589666.1_5'UTR|H3F3B_ENST00000586607.1_Intron			Q9C0B0	UNK_HUMAN	unkempt family zinc finger	0							nucleic acid binding|zinc ion binding			cervix(3)|endometrium(8)|kidney(2)|large_intestine(5)|lung(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	25			all cancers(21;2.61e-06)|Epithelial(20;7.39e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|LUSC - Lung squamous cell carcinoma(166;0.154)			GGTCTTCACGTTCTCGTGGCG	0.617													8	45	---	---	---	---						-	73780866	T	-	73780866	7	5	478	1	0	1	0	1	0	0	0	0	17060	1725	60	0	139	0	UNK	17	73780866	Frame_Shift_Del	DEL	T	TCGA-TQ-A7RH-01A-12D-A34A-08	32776852	73780866	7414344	55	36953											
MUC16	94025	broad.mit.edu	37	19	9072517	9072517	+	Missense_Mutation	SNP	G	G	T			TCGA-TQ-A7RH-01A-12D-A34A-08	TCGA-TQ-A7RH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92353c63-d5c2-4230-a396-f59612726e28	ec2bcc74-83ae-40d9-84f1-4655f7dcb336	g.chr19:9072517G>T	ENST00000397910.4	-	3	15132	c.14929C>A	c.(14929-14931)Caa>Aaa	p.Q4977K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4979	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGACCTGTTTGGGTGGTGATG	0.483													23	66					3.62473e-10	4.24773e-10	1	1	0	T	9072517	G	T	9072517	3	4	478	1	0	0	0	0	1	0	0	0	10021	1357	47	5	28922	5	MUC16	19	9072517	Missense_Mutation	SNP	G	TCGA-TQ-A7RH-01A-12D-A34A-08		9072517	50056466	56	36954											
OR10H4	126541	broad.mit.edu	37	19	16059822	16059822	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RH-01A-12D-A34A-08	TCGA-TQ-A7RH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92353c63-d5c2-4230-a396-f59612726e28	ec2bcc74-83ae-40d9-84f1-4655f7dcb336	g.chr19:16059822C>T	ENST00000322107.1	+	1	5	c.5C>T	c.(4-6)cCt>cTt	p.P2L		NM_001004465.1	NP_001004465.1	Q8NGA5	O10H4_HUMAN	olfactory receptor, family 10, subfamily H, member 4	2					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	17						GTATCCATGCCTAGTCAGAAC	0.438													6	94					0	0	1	0	0	T	16059822	C	T	16059822	3	4	478	1	0	0	0	0	1	0	0	0	10956	681	24	2	7	2	OR10H4	19	16059822	Missense_Mutation	SNP	C	TCGA-TQ-A7RH-01A-12D-A34A-08	6987305	16059822	43069161	57	36955											
ZNF607	84775	broad.mit.edu	37	19	38189657	38189657	+	Missense_Mutation	SNP	G	G	T			TCGA-TQ-A7RH-01A-12D-A34A-08	TCGA-TQ-A7RH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92353c63-d5c2-4230-a396-f59612726e28	ec2bcc74-83ae-40d9-84f1-4655f7dcb336	g.chr19:38189657G>T	ENST00000355202.4	-	5	1970	c.1375C>A	c.(1375-1377)Cgt>Agt	p.R459S	CTD-2528L19.4_ENST00000586606.2_Intron|ZNF607_ENST00000395835.3_Missense_Mutation_p.R458S	NM_032689.4	NP_116078.4	Q96SK3	ZN607_HUMAN	zinc finger protein 607	459					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|lung(8)|urinary_tract(1)	27			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)			GAGGCACAACGAAAGGACTTC	0.413													5	110					1	1	1	1	0	T	38189657	G	T	38189657	3	4	478	1	0	0	0	0	1	0	0	0	18090	1058	37	5	719	5	ZNF607	19	38189657	Missense_Mutation	SNP	G	TCGA-TQ-A7RH-01A-12D-A34A-08	22129835	38189657	20939326	58	36956											
NLRP12	91662	broad.mit.edu	37	19	54314138	54314148	+	Frame_Shift_Del	DEL	CACTCTGGTTC	CACTCTGGTTC	-			TCGA-TQ-A7RH-01A-12D-A34A-08	TCGA-TQ-A7RH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92353c63-d5c2-4230-a396-f59612726e28	ec2bcc74-83ae-40d9-84f1-4655f7dcb336	g.chr19:54314138_54314148delCACTCTGGTTC	ENST00000324134.6	-	3	933_943	c.765_775delGAACCAGAGTG	c.(763-777)atgaaccagagtgccfs	p.MNQSA255fs	NLRP12_ENST00000535162.1_Frame_Shift_Del_p.MNQSA255fs|NLRP12_ENST00000391773.1_Frame_Shift_Del_p.MNQSA255fs|NLRP12_ENST00000391775.3_Frame_Shift_Del_p.MNQSA255fs|NLRP12_ENST00000345770.5_Frame_Shift_Del_p.MNQSA255fs|NLRP12_ENST00000391772.1_Frame_Shift_Del_p.MNQSA255fs|NLRP12_ENST00000351894.4_Frame_Shift_Del_p.MNQSA255fs|NLRP12_ENST00000354278.3_Frame_Shift_Del_p.MNQSA255fs	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	255	NACHT.				negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		CATTCCGTGGCACTCTGGTTCATCTCCCTGC	0.564													14	6	---	---	---	---						-	54314148	CACTCTGGTTC	-	54314138	7	5	478	1	0	1	0	1	0	0	0	0	10521	710	25	0	2538	0	NLRP12	19	54314138	Frame_Shift_Del	DEL	CACTCTGGTTC	TCGA-TQ-A7RH-01A-12D-A34A-08	16124481	54314138	4814845	59	36957											
UCKL1	54963	broad.mit.edu	37	20	62585381	62585381	+	Frame_Shift_Del	DEL	G	G	-			TCGA-TQ-A7RH-01A-12D-A34A-08	TCGA-TQ-A7RH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92353c63-d5c2-4230-a396-f59612726e28	ec2bcc74-83ae-40d9-84f1-4655f7dcb336	g.chr20:62585381delG	ENST00000595604.1	+	1	375	c.375delG	c.(373-375)ctgfs	p.L125fs	UCKL1_ENST00000358711.3_Intron|UCKL1_ENST00000354216.6_Intron|UCKL1_ENST00000369892.3_Intron																							AAATGAGGCTGGGGGGAGGAG	0.597													2	4	---	---	---	---						-	62585381	G	-	62585381	7	5	478	1	0	1	0	1	0	0	0	0	16985	1363	47	0		0	UCKL1	20	62585381	Frame_Shift_Del	DEL	G	TCGA-TQ-A7RH-01A-12D-A34A-08		62585381	440139	60	36958											
KRTAP10-4	386672	broad.mit.edu	37	21	45993836	45993836	+	Silent	SNP	C	C	T			TCGA-TQ-A7RH-01A-12D-A34A-08	TCGA-TQ-A7RH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92353c63-d5c2-4230-a396-f59612726e28	ec2bcc74-83ae-40d9-84f1-4655f7dcb336	g.chr21:45993836C>T	ENST00000400374.3	+	1	231	c.201C>T	c.(199-201)tgC>tgT	p.C67C	TSPEAR_ENST00000323084.4_Intron	NM_198687.1	NP_941960.1	P60372	KR104_HUMAN	keratin associated protein 10-4	67	36 X 5 AA repeats of C-C-X(3).					keratin filament				NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(1)	18						CCAGCCCCTGCTGCCCAGTGA	0.711													23	139					0	0	1	0	0	T	45993836	C	T	45993836	2	4	478	1	0	0	0	0	0	0	0	1	8554	805	28	2		2	KRTAP10-4	21	45993836	Silent	SNP	C	TCGA-TQ-A7RH-01A-12D-A34A-08		45993836	2136059	61	36959											
FTCD	10841	broad.mit.edu	37	21	47557244	47557244	+	Missense_Mutation	SNP	G	G	A	rs145609043		TCGA-TQ-A7RH-01A-12D-A34A-08	TCGA-TQ-A7RH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92353c63-d5c2-4230-a396-f59612726e28	ec2bcc74-83ae-40d9-84f1-4655f7dcb336	g.chr21:47557244G>A	ENST00000397748.1	-	13	1491	c.1448C>T	c.(1447-1449)gCg>gTg	p.A483V	FTCD_ENST00000355384.2_Silent_p.G468G|FTCD_ENST00000498355.2_5'UTR|FTCD_ENST00000397746.3_Missense_Mutation_p.A483V|FTCD_ENST00000397743.1_Silent_p.G468G|FTCD_ENST00000291670.5_Missense_Mutation_p.A483V|FTCD_ENST00000359679.2_Missense_Mutation_p.A483V			O95954	FTCD_HUMAN	formimidoyltransferase cyclodeaminase	483	Cyclodeaminase/cyclohydrolase (By similarity).				folic acid-containing compound metabolic process|histidine catabolic process	centriole|cytosol|Golgi apparatus	folic acid binding|formimidoyltetrahydrofolate cyclodeaminase activity|glutamate formimidoyltransferase activity			endometrium(1)|large_intestine(2)|lung(9)|pancreas(1)|prostate(3)|skin(3)	19	Breast(49;0.214)			Colorectal(79;0.235)	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116)	GGCTTTGGCCGCCACCTGCAA	0.597													32	23					0	0	1	0	0	A	47557244	G	A	47557244	3	1	478	1	0	0	0	0	1	0	0	0	6116	1087	38	1	185	1	FTCD	21	47557244	Missense_Mutation	SNP	G	TCGA-TQ-A7RH-01A-12D-A34A-08	1563408	47557244	572651	62	36960											
ATRX	546	broad.mit.edu	37	X	76849196	76849196	+	Missense_Mutation	SNP	A	A	G			TCGA-TQ-A7RH-01A-12D-A34A-08	TCGA-TQ-A7RH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92353c63-d5c2-4230-a396-f59612726e28	ec2bcc74-83ae-40d9-84f1-4655f7dcb336	g.chrX:76849196A>G	ENST00000373344.5	-	26	6294	c.6080T>C	c.(6079-6081)cTt>cCt	p.L2027P	ATRX_ENST00000395603.3_Missense_Mutation_p.L1989P|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	2027	Helicase C-terminal.				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)	TGCCATTCGAAGAATTTCAAA	0.348			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						47	24					0	0	1	0	0	G	76849196	A	G	76849196	3	3	478	1	0	0	0	0	1	0	0	0	1206	72	3	3	1438	3	ATRX	23	76849196	Missense_Mutation	SNP	A	TCGA-TQ-A7RH-01A-12D-A34A-08		76849196	78421364	63	36961											
COL4A6	1288	broad.mit.edu	37	X	107417809	107417809	+	Missense_Mutation	SNP	G	G	T			TCGA-TQ-A7RH-01A-12D-A34A-08	TCGA-TQ-A7RH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92353c63-d5c2-4230-a396-f59612726e28	ec2bcc74-83ae-40d9-84f1-4655f7dcb336	g.chrX:107417809G>T	ENST00000334504.7	-	31	3232	c.2999C>A	c.(2998-3000)cCt>cAt	p.P1000H	COL4A6_ENST00000372216.4_Missense_Mutation_p.P1001H|COL4A6_ENST00000545689.1_Missense_Mutation_p.P1000H|COL4A6_ENST00000394872.2_Missense_Mutation_p.P1001H|COL4A6_ENST00000538570.1_Missense_Mutation_p.P1000H	NM_033641.2	NP_378667.1	Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	1001	Triple-helical region.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						AGGAGCTCCAGGTAGGCCTGG	0.547									Alport syndrome with Diffuse Leiomyomatosis				17	20					0.000566183	0.000624467	1	1	0	T	107417809	G	T	107417809	3	4	478	1	0	0	0	0	1	0	0	0	3718	1000	35	4	2133	4	COL4A6	23	107417809	Missense_Mutation	SNP	G	TCGA-TQ-A7RH-01A-12D-A34A-08	30568613	107417809	47852751	64	36962											
LRCH2	57631	broad.mit.edu	37	X	114361427	114361427	+	Frame_Shift_Del	DEL	T	T	-			TCGA-TQ-A7RH-01A-12D-A34A-08	TCGA-TQ-A7RH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92353c63-d5c2-4230-a396-f59612726e28	ec2bcc74-83ae-40d9-84f1-4655f7dcb336	g.chrX:114361427delT	ENST00000317135.8	-	16	1800	c.1770delA	c.(1768-1770)acafs	p.T590fs	LRCH2_ENST00000538422.1_Intron	NM_020871.3	NP_065922.3	Q5VUJ6	LRCH2_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 2	590										breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	19						CTGGAGATTGTGTTGACATAT	0.284													2	4	---	---	---	---						-	114361427	T	-	114361427	7	5	478	1	0	1	0	1	0	0	0	0	8978	1683	59	0	551	0	LRCH2	23	114361427	Frame_Shift_Del	DEL	T	TCGA-TQ-A7RH-01A-12D-A34A-08	6943618	114361427	40909133	65	36963											
KIAA1210	57481	broad.mit.edu	37	X	118222263	118222263	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RH-01A-12D-A34A-08	TCGA-TQ-A7RH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92353c63-d5c2-4230-a396-f59612726e28	ec2bcc74-83ae-40d9-84f1-4655f7dcb336	g.chrX:118222263G>A	ENST00000402510.2	-	11	2929	c.2930C>T	c.(2929-2931)tCt>tTt	p.S977F		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	977										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						AGGCTTCATAGAAATGCTCTC	0.463													31	6					0	0	1	0	0	A	118222263	G	A	118222263	3	1	478	1	0	0	0	0	1	0	0	0	8256	942	33	2	2215	2	KIAA1210	23	118222263	Missense_Mutation	SNP	G	TCGA-TQ-A7RH-01A-12D-A34A-08	3860836	118222263	37048297	66	36964											
ARV1	64801	broad.mit.edu	37	1	231131566	231131567	+	Frame_Shift_Ins	INS	-	-	A			TCGA-TQ-A7RI-01A-11D-A33T-08	TCGA-TQ-A7RI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92fdb7b7-7e35-48a7-a00c-a63753726d81	c8b7a13a-9f33-4121-91a7-ad79b54b9070	g.chr1:231131566_231131567insA	ENST00000310256.2	+	4	566_567	c.509_510insA	c.(508-513)gcaaaafs	p.AK170fs	ARV1_ENST00000497753.1_3'UTR|ARV1_ENST00000366658.2_Frame_Shift_Ins_p.AK130fs	NM_022786.1	NP_073623.1	Q9H2C2	ARV1_HUMAN	ARV1 homolog (S. cerevisiae)	170					sphingolipid metabolic process	integral to membrane				breast(3)|large_intestine(2)|lung(2)	7	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)		COAD - Colon adenocarcinoma(196;0.211)|Colorectal(1306;0.233)		CCCATGACGGCAAAAAAAAAGC	0.381													7	183	---	---	---	---						A	231131567	-	A	231131566	7	5	479	1	0	1	1	0	0	0	0	0	1001	710	25	0	523	0	ARV1	1	231131566	Frame_Shift_Ins	INS	-	TCGA-TQ-A7RI-01A-11D-A33T-08		231131566	18119055	1	36965											
TTN	7273	broad.mit.edu	37	2	179611166	179611166	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RI-01A-11D-A33T-08	TCGA-TQ-A7RI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92fdb7b7-7e35-48a7-a00c-a63753726d81	c8b7a13a-9f33-4121-91a7-ad79b54b9070	g.chr2:179611166C>T	ENST00000360870.5	-	46	16183	c.15961G>A	c.(15961-15963)Gtt>Att	p.V5321I	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Intron	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	8833	Ig-like 34.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AATTCTTTAACGTCTTTTTCA	0.363													6	101					0	0	1	0	0	T	179611166	C	T	179611166	3	4	479	1	0	0	0	0	1	0	0	0	16797	536	19	1	94336	1	TTN	2	179611166	Missense_Mutation	SNP	C	TCGA-TQ-A7RI-01A-11D-A33T-08		179611166	63588207	2	36966											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-TQ-A7RI-01A-11D-A33T-08	TCGA-TQ-A7RI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92fdb7b7-7e35-48a7-a00c-a63753726d81	c8b7a13a-9f33-4121-91a7-ad79b54b9070	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								65	119					0	0	1	0	0	T	209113112	C	T	209113112	3	4	479	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-TQ-A7RI-01A-11D-A33T-08	29501946	209113112	34086261	3	36967											
LMOD3	56203	broad.mit.edu	37	3	69167987	69167987	+	Missense_Mutation	SNP	C	C	T	rs149196259	by1000genomes	TCGA-TQ-A7RI-01A-11D-A33T-08	TCGA-TQ-A7RI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92fdb7b7-7e35-48a7-a00c-a63753726d81	c8b7a13a-9f33-4121-91a7-ad79b54b9070	g.chr3:69167987C>T	ENST00000420581.2	-	2	1698	c.1519G>A	c.(1519-1521)Gag>Aag	p.E507K	LMOD3_ENST00000489031.1_Missense_Mutation_p.E507K|LMOD3_ENST00000475434.1_Missense_Mutation_p.E507K	NM_198271.3	NP_938012.2	Q0VAK6	LMOD3_HUMAN	leiomodin 3 (fetal)	507						cytoplasm|cytoskeleton	tropomyosin binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)	13		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;7.88e-05)|Epithelial(33;0.000839)|LUSC - Lung squamous cell carcinoma(21;0.0119)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.205)|Kidney(39;0.24)		TTGGTTTTCTCGGGTGGTTCT	0.547													32	37					0	0	1	0	0	T	69167987	C	T	69167987	3	4	479	1	0	0	0	0	1	0	0	0	8899	893	31	1	171	1	LMOD3	3	69167987	Missense_Mutation	SNP	C	TCGA-TQ-A7RI-01A-11D-A33T-08		69167987	128854443	4	36968											
KIAA1407	57577	broad.mit.edu	37	3	113684008	113684008	+	Silent	SNP	G	G	A	rs145304274	byFrequency	TCGA-TQ-A7RI-01A-11D-A33T-08	TCGA-TQ-A7RI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92fdb7b7-7e35-48a7-a00c-a63753726d81	c8b7a13a-9f33-4121-91a7-ad79b54b9070	g.chr3:113684008G>A	ENST00000295878.3	-	17	2951	c.2805C>T	c.(2803-2805)aaC>aaT	p.N935N		NM_020817.1	NP_065868.1	Q8NCU4	K1407_HUMAN	KIAA1407	935										endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						TGGCTCATTCGTTCACCAGAC	0.438													12	123					0	0	1	0	0	A	113684008	G	A	113684008	2	1	479	1	0	0	0	0	0	0	0	1	8271	1136	40	1		1	KIAA1407	3	113684008	Silent	SNP	G	TCGA-TQ-A7RI-01A-11D-A33T-08	44516021	113684008	84338422	5	36969											
STAP1	26228	broad.mit.edu	37	4	68456652	68456652	+	Missense_Mutation	SNP	C	C	A			TCGA-TQ-A7RI-01A-11D-A33T-08	TCGA-TQ-A7RI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92fdb7b7-7e35-48a7-a00c-a63753726d81	c8b7a13a-9f33-4121-91a7-ad79b54b9070	g.chr4:68456652C>A	ENST00000265404.2	+	7	792	c.710C>A	c.(709-711)aCt>aAt	p.T237N	STAP1_ENST00000396225.1_Missense_Mutation_p.T237N	NM_012108.2	NP_036240.1	Q9ULZ2	STAP1_HUMAN	signal transducing adaptor family member 1	237	SH2.				cellular membrane fusion|intracellular protein transport	cytoplasm				NS(1)|large_intestine(1)|liver(1)|lung(7)|skin(1)|urinary_tract(1)	12						CAAAACTACACTATTGAACTG	0.373													8	112					5.68852e-11	6.01671e-11	1	1	0	A	68456652	C	A	68456652	3	1	479	1	0	0	0	0	1	0	0	0	15308	565	20	4	736	4	STAP1	4	68456652	Missense_Mutation	SNP	C	TCGA-TQ-A7RI-01A-11D-A33T-08		68456652	122697624	6	36970											
NPY2R	4887	broad.mit.edu	37	4	156135535	156135535	+	Silent	SNP	G	G	A			TCGA-TQ-A7RI-01A-11D-A33T-08	TCGA-TQ-A7RI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92fdb7b7-7e35-48a7-a00c-a63753726d81	c8b7a13a-9f33-4121-91a7-ad79b54b9070	g.chr4:156135535G>A	ENST00000329476.3	+	2	933	c.444G>A	c.(442-444)cgG>cgA	p.R148R	NPY2R_ENST00000506608.1_Silent_p.R148R	NM_000910.2	NP_000901.1	P49146	NPY2R_HUMAN	neuropeptide Y receptor Y2	148					cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis	integral to plasma membrane	calcium channel regulator activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1)	36	all_hematologic(180;0.24)	Renal(120;0.0854)				CCCTGGACCGGCACAGGTGCA	0.557													4	91					0	0	1	0	0	A	156135535	G	A	156135535	2	1	479	1	0	0	0	0	0	0	0	1	10657	1190	42	2		2	NPY2R	4	156135535	Silent	SNP	G	TCGA-TQ-A7RI-01A-11D-A33T-08	87678883	156135535	35018741	7	36971											
C5orf49	134121	broad.mit.edu	37	5	7835522	7835522	+	Missense_Mutation	SNP	T	T	G			TCGA-TQ-A7RI-01A-11D-A33T-08	TCGA-TQ-A7RI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92fdb7b7-7e35-48a7-a00c-a63753726d81	c8b7a13a-9f33-4121-91a7-ad79b54b9070	g.chr5:7835522T>G	ENST00000399810.2	-	2	705	c.237A>C	c.(235-237)aaA>aaC	p.K79N	C5orf49_ENST00000509627.1_Missense_Mutation_p.K79N	NM_001089584.2	NP_001083053.1	A4QMS7	CE049_HUMAN	chromosome 5 open reading frame 49	79										large_intestine(3)|lung(5)|skin(1)	9						GTCCCAGGCTTTTTGCATGTT	0.338													77	162					0	0	1	0	0	G	7835522	T	G	7835522	3	3	479	1	0	0	0	0	1	0	0	0	2322	1838	64	5	214	5	C5orf49	5	7835522	Missense_Mutation	SNP	T	TCGA-TQ-A7RI-01A-11D-A33T-08		7835522	173079738	8	36972											
HSPA9	3313	broad.mit.edu	37	5	137895665	137895665	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RI-01A-11D-A33T-08	TCGA-TQ-A7RI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92fdb7b7-7e35-48a7-a00c-a63753726d81	c8b7a13a-9f33-4121-91a7-ad79b54b9070	g.chr5:137895665G>A	ENST00000297185.3	-	11	1423	c.1298C>T	c.(1297-1299)aCg>aTg	p.T433M	HSPA9_ENST00000501917.2_Intron	NM_004134.6	NP_004125.3	P38646	GRP75_HUMAN	heat shock 70kDa protein 9 (mortalin)	433					anti-apoptosis|protein folding	cell surface|mitochondrial nucleoid	ATP binding|unfolded protein binding			breast(2)|endometrium(1)|kidney(4)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(1)	28			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			CAGCACATCCGTGACATCGCC	0.498													7	73					0	0	1	0	0	A	137895665	G	A	137895665	3	1	479	1	0	0	0	0	1	0	0	0	7460	1145	40	1	769	1	HSPA9	5	137895665	Missense_Mutation	SNP	G	TCGA-TQ-A7RI-01A-11D-A33T-08	130060143	137895665	43019595	9	36973											
ZNF184	7738	broad.mit.edu	37	6	27420565	27420565	+	Missense_Mutation	SNP	G	G	C			TCGA-TQ-A7RI-01A-11D-A33T-08	TCGA-TQ-A7RI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92fdb7b7-7e35-48a7-a00c-a63753726d81	c8b7a13a-9f33-4121-91a7-ad79b54b9070	g.chr6:27420565G>C	ENST00000211936.6	-	6	1057	c.773C>G	c.(772-774)gCc>gGc	p.A258G	ZNF184_ENST00000377419.1_Missense_Mutation_p.A258G	NM_007149.2	NP_009080.2	Q99676	ZN184_HUMAN	zinc finger protein 184	258					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						CCGGCTGAAGGCTTTTTCACA	0.378													27	215					0	0	1	0	0	C	27420565	G	C	27420565	3	2	479	1	0	0	0	0	1	0	0	0	17809	1203	42	5	1486	5	ZNF184	6	27420565	Missense_Mutation	SNP	G	TCGA-TQ-A7RI-01A-11D-A33T-08		27420565	143694502	10	36974											
RRAGD	58528	broad.mit.edu	37	6	90097209	90097210	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-TQ-A7RI-01A-11D-A33T-08	TCGA-TQ-A7RI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92fdb7b7-7e35-48a7-a00c-a63753726d81	c8b7a13a-9f33-4121-91a7-ad79b54b9070	g.chr6:90097209_90097210delAA	ENST00000369415.4	-	2	524_525	c.248_249delTT	c.(247-249)tttfs	p.F83fs	RRAGD_ENST00000359203.3_Intron|RRAGD_ENST00000492783.1_5'UTR	NM_021244.4	NP_067067.1	Q9NQL2	RRAGD_HUMAN	Ras-related GTP binding D	83					cellular protein localization|cellular response to amino acid stimulus|positive regulation of TOR signaling cascade	lysosome|nucleus	GTP binding|protein heterodimerization activity			breast(1)|central_nervous_system(1)|large_intestine(4)|lung(7)|ovary(2)	15		all_cancers(76;7.01e-07)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00139)		BRCA - Breast invasive adenocarcinoma(108;0.0144)		ACATTTTGTGAAAGACAACTTT	0.465													208	395	---	---	---	---						-	90097210	AA	-	90097209	7	5	479	1	0	1	0	1	0	0	0	0	13727	243	9	0	977	0	RRAGD	6	90097209	Frame_Shift_Del	DEL	AA	TCGA-TQ-A7RI-01A-11D-A33T-08	62676644	90097209	81017858	11	36975											
RABGEF1	27342	broad.mit.edu	37	7	66236880	66236882	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-TQ-A7RI-01A-11D-A33T-08	TCGA-TQ-A7RI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92fdb7b7-7e35-48a7-a00c-a63753726d81	c8b7a13a-9f33-4121-91a7-ad79b54b9070	g.chr7:66236880_66236882delGAA	ENST00000439720.2	+	2	200_202	c.33_35delGAA	c.(31-36)aggaag>agg	p.K13del	RABGEF1_ENST00000484547.2_3'UTR|KCTD7_ENST00000380828.2_5'UTR|KCTD7_ENST00000510829.2_5'UTR|RABGEF1_ENST00000437078.2_In_Frame_Del_p.K14del|RABGEF1_ENST00000450873.2_5'UTR|RABGEF1_ENST00000284957.5_5'UTR|KCTD7_ENST00000451741.2_5'UTR			Q9UJ41	RABX5_HUMAN	RAB guanine nucleotide exchange factor (GEF) 1	138					endocytosis|protein transport	early endosome|recycling endosome	DNA binding|protein binding|zinc ion binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|stomach(1)	27						TGGTTAGCAGGAAGAAGATGAGC	0.404													7	133	---	---	---	---						-	66236882	GAA	-	66236880	7	5	479	1	0	1	0	1	0	0	0	0	13018	1189	41	0		0	RABGEF1	7	66236880	In_Frame_Del	DEL	GAA	TCGA-TQ-A7RI-01A-11D-A33T-08		66236880	92901783	12	36976											
PXDNL	137902	broad.mit.edu	37	8	52321614	52321614	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RI-01A-11D-A33T-08	TCGA-TQ-A7RI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92fdb7b7-7e35-48a7-a00c-a63753726d81	c8b7a13a-9f33-4121-91a7-ad79b54b9070	g.chr8:52321614G>A	ENST00000356297.4	-	17	2670	c.2570C>T	c.(2569-2571)gCg>gTg	p.A857V	PXDNL_ENST00000543296.1_Missense_Mutation_p.A857V	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	857					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				CATGCAGGGCGCGTGGGTGCC	0.682													8	74					0	0	1	0	0	A	52321614	G	A	52321614	3	1	479	1	0	0	0	0	1	0	0	0	12900	1087	38	1	1849	1	PXDNL	8	52321614	Missense_Mutation	SNP	G	TCGA-TQ-A7RI-01A-11D-A33T-08		52321614	94042408	13	36977											
DAPK1	1612	broad.mit.edu	37	9	90283584	90283584	+	Nonsense_Mutation	SNP	C	C	T			TCGA-TQ-A7RI-01A-11D-A33T-08	TCGA-TQ-A7RI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92fdb7b7-7e35-48a7-a00c-a63753726d81	c8b7a13a-9f33-4121-91a7-ad79b54b9070	g.chr9:90283584C>T	ENST00000469640.2	+	19	2371	c.1996C>T	c.(1996-1998)Cga>Tga	p.R666*	DAPK1_ENST00000408954.3_Nonsense_Mutation_p.R666*|DAPK1_ENST00000358077.5_Nonsense_Mutation_p.R666*|DAPK1_ENST00000491893.1_Nonsense_Mutation_p.R666*|DAPK1_ENST00000472284.1_Nonsense_Mutation_p.R666*|DAPK1_ENST00000466188.1_3'UTR			P53355	DAPK1_HUMAN	death-associated protein kinase 1	666					apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade	actin cytoskeleton|cytoplasm	ATP binding|calmodulin binding|protein serine/threonine kinase activity			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						TGCAAGACTTCGAAAGGTGAG	0.423									Chronic Lymphocytic Leukemia, Familial Clustering of				23	270					0	0	1	0	0	T	90283584	C	T	90283584	4	4	479	1	0	0	0	0	0	1	0	0	4259	876	31	1	2066	1	DAPK1	9	90283584	Nonsense_Mutation	SNP	C	TCGA-TQ-A7RI-01A-11D-A33T-08		90283584	50929847	14	36978											
ZNF214	7761	broad.mit.edu	37	11	7024038	7024039	+	Frame_Shift_Del	DEL	AT	AT	-			TCGA-TQ-A7RI-01A-11D-A33T-08	TCGA-TQ-A7RI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92fdb7b7-7e35-48a7-a00c-a63753726d81	c8b7a13a-9f33-4121-91a7-ad79b54b9070	g.chr11:7024038_7024039delAT	ENST00000278314.4	-	2	343_344	c.28_29delAT	c.(28-30)attfs	p.I11fs	ZNF214_ENST00000536068.1_Frame_Shift_Del_p.I11fs|ZNF214_ENST00000531083.1_5'UTR	NM_013249.2	NP_037381.2	Q9UL59	ZN214_HUMAN	zinc finger protein 214	11	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				Epithelial(150;3.87e-08)|BRCA - Breast invasive adenocarcinoma(625;0.081)		TGTAAAAATAATAGTCACATCT	0.381													60	119	---	---	---	---						-	7024039	AT	-	7024038	7	5	479	1	0	1	0	1	0	0	0	0	17828	101	4	0	1799	0	ZNF214	11	7024038	Frame_Shift_Del	DEL	AT	TCGA-TQ-A7RI-01A-11D-A33T-08		7024038	127982478	15	36979											
MADD	8567	broad.mit.edu	37	11	47303193	47303193	+	Missense_Mutation	SNP	A	A	G			TCGA-TQ-A7RI-01A-11D-A33T-08	TCGA-TQ-A7RI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92fdb7b7-7e35-48a7-a00c-a63753726d81	c8b7a13a-9f33-4121-91a7-ad79b54b9070	g.chr11:47303193A>G	ENST00000342922.4	+	8	1715	c.1358A>G	c.(1357-1359)gAg>gGg	p.E453G	MADD_ENST00000395336.3_Missense_Mutation_p.E453G|MADD_ENST00000489415.1_3'UTR|MADD_ENST00000395344.3_Missense_Mutation_p.E453G|MADD_ENST00000402799.1_Missense_Mutation_p.E453G|MADD_ENST00000406482.1_Missense_Mutation_p.E453G|MADD_ENST00000407859.3_Missense_Mutation_p.E453G|MADD_ENST00000349238.3_Missense_Mutation_p.E453G|MADD_ENST00000402192.2_Missense_Mutation_p.E453G|MADD_ENST00000311027.5_Missense_Mutation_p.E453G	NM_130470.2	NP_569826.2	Q8WXG6	MADD_HUMAN	MAP-kinase activating death domain	453					activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle	cytoplasm|integral to membrane|plasma membrane	death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity			breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84				Lung(87;0.182)		GAGGGCCAGGAGATCCCCCTT	0.498													9	114					0	0	1	0	0	G	47303193	A	G	47303193	3	3	479	1	0	0	0	0	1	0	0	0	9198	304	11	3	1384	3	MADD	11	47303193	Missense_Mutation	SNP	A	TCGA-TQ-A7RI-01A-11D-A33T-08	40279155	47303193	87703323	16	36980											
ZDHHC24	254359	broad.mit.edu	37	11	66307297	66307297	+	Splice_Site	SNP	T	T	C			TCGA-TQ-A7RI-01A-11D-A33T-08	TCGA-TQ-A7RI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92fdb7b7-7e35-48a7-a00c-a63753726d81	c8b7a13a-9f33-4121-91a7-ad79b54b9070	g.chr11:66307297T>C	ENST00000310442.3	-	3	794		c.e3-2		ZDHHC24_ENST00000526986.1_Intron	NM_207340.1	NP_997223.1	Q6UX98	ZDH24_HUMAN	zinc finger, DHHC-type containing 24							integral to membrane	acyltransferase activity|zinc ion binding			endometrium(1)|large_intestine(3)|ovary(1)|prostate(1)|skin(1)	7						ACACTCTGCCTGCAATAAAAG	0.637													15	33					0	0	1	0	0	C	66307297	T	C	66307297	5	2	479	1	0	0	0	0	0	0	1	0	17673	1594	55	3	300	3	ZDHHC24	11	66307297	Splice_Site	SNP	T	TCGA-TQ-A7RI-01A-11D-A33T-08	19004104	66307297	68699219	17	36981											
CD163L1	283316	broad.mit.edu	37	12	7528426	7528426	+	Missense_Mutation	SNP	T	T	G			TCGA-TQ-A7RI-01A-11D-A33T-08	TCGA-TQ-A7RI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92fdb7b7-7e35-48a7-a00c-a63753726d81	c8b7a13a-9f33-4121-91a7-ad79b54b9070	g.chr12:7528426T>G	ENST00000313599.3	-	10	2613	c.2556A>C	c.(2554-2556)aaA>aaC	p.K852N	CD163L1_ENST00000416109.2_Missense_Mutation_p.K862N|CD163L1_ENST00000396630.1_Missense_Mutation_p.K852N|CD163L1_ENST00000544331.1_5'UTR			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	852	SRCR 8.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						GACCATTCCCTTTTCCAAAGT	0.448													55	91					0	0	1	0	0	G	7528426	T	G	7528426	3	3	479	1	0	0	0	0	1	0	0	0	2990	1606	56	5	1845	5	CD163L1	12	7528426	Missense_Mutation	SNP	T	TCGA-TQ-A7RI-01A-11D-A33T-08		7528426	126323469	18	36982											
TMTC1	83857	broad.mit.edu	37	12	29786175	29786175	+	Missense_Mutation	SNP	G	G	T			TCGA-TQ-A7RI-01A-11D-A33T-08	TCGA-TQ-A7RI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92fdb7b7-7e35-48a7-a00c-a63753726d81	c8b7a13a-9f33-4121-91a7-ad79b54b9070	g.chr12:29786175G>T	ENST00000256062.5	-	6	1182	c.709C>A	c.(709-711)Ctg>Atg	p.L237M	TMTC1_ENST00000539277.1_Missense_Mutation_p.L345M|TMTC1_ENST00000551659.1_Missense_Mutation_p.L407M|TMTC1_ENST00000552618.1_Missense_Mutation_p.L407M|TMTC1_ENST00000319685.8_5'UTR|TMTC1_ENST00000381224.2_Missense_Mutation_p.L299M	NM_175861.3	NP_787057.2	Q8IUR5	TMTC1_HUMAN	transmembrane and tetratricopeptide repeat containing 1	345						integral to membrane	binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)					GTCTCTACCAGAGGAATACTG	0.502													42	69					1.57019e-19	1.69335e-19	1	1	0	T	29786175	G	T	29786175	3	4	479	1	0	0	0	0	1	0	0	0	16320	933	33	4	1667	4	TMTC1	12	29786175	Missense_Mutation	SNP	G	TCGA-TQ-A7RI-01A-11D-A33T-08	22257749	29786175	104065720	19	36983											
CHST11	50515	broad.mit.edu	37	12	104851291	104851294	+	Frame_Shift_Del	DEL	AAGT	AAGT	-			TCGA-TQ-A7RI-01A-11D-A33T-08	TCGA-TQ-A7RI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92fdb7b7-7e35-48a7-a00c-a63753726d81	c8b7a13a-9f33-4121-91a7-ad79b54b9070	g.chr12:104851291_104851294delAAGT	ENST00000303694.5	+	1	541_544	c.102_105delAAGT	c.(100-105)caaagtfs	p.QS34fs	CHST11_ENST00000547956.1_Frame_Shift_Del_p.QS34fs|CHST11_ENST00000546689.1_Splice_Site_p.S35fs|CHST11_ENST00000549260.1_Splice_Site_p.S35fs	NM_018413.5	NP_060883.1	Q9NPF2	CHSTB_HUMAN	carbohydrate (chondroitin 4) sulfotransferase 11	34					chondroitin sulfate biosynthetic process	Golgi membrane|integral to membrane	chondroitin 4-sulfotransferase activity|N-acetylgalactosamine 4-O-sulfotransferase activity			breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(1)	18						TCTATTTCCAAAGTATGTTGCACC	0.52													8	294	---	---	---	---						-	104851294	AAGT	-	104851291	7	5	479	1	0	1	0	1	0	0	0	0	3421	28	1	0	104	0	CHST11	12	104851291	Frame_Shift_Del	DEL	AAGT	TCGA-TQ-A7RI-01A-11D-A33T-08	75065116	104851291	29000604	20	36984											
TMTC4	84899	broad.mit.edu	37	13	101294550	101294550	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RI-01A-11D-A33T-08	TCGA-TQ-A7RI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92fdb7b7-7e35-48a7-a00c-a63753726d81	c8b7a13a-9f33-4121-91a7-ad79b54b9070	g.chr13:101294550G>A	ENST00000342624.5	-	7	914	c.656C>T	c.(655-657)gCg>gTg	p.A219V	TMTC4_ENST00000328767.5_Missense_Mutation_p.A89V|TMTC4_ENST00000462211.1_5'UTR|TMTC4_ENST00000376234.3_Missense_Mutation_p.A200V	NM_032813.2	NP_116202.2	Q5T4D3	TMTC4_HUMAN	transmembrane and tetratricopeptide repeat containing 4	200						integral to membrane	binding			breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					GGAAGAATGCGCTCCCTCCTT	0.468													68	106					0	0	1	0	0	A	101294550	G	A	101294550	3	1	479	1	0	0	0	0	1	0	0	0	16323	1087	38	1	1678	1	TMTC4	13	101294550	Missense_Mutation	SNP	G	TCGA-TQ-A7RI-01A-11D-A33T-08		101294550	13875328	21	36985											
IPO4	79711	broad.mit.edu	37	14	24655922	24655922	+	Missense_Mutation	SNP	T	T	C			TCGA-TQ-A7RI-01A-11D-A33T-08	TCGA-TQ-A7RI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92fdb7b7-7e35-48a7-a00c-a63753726d81	c8b7a13a-9f33-4121-91a7-ad79b54b9070	g.chr14:24655922T>C	ENST00000354464.6	-	9	1008	c.832A>G	c.(832-834)Aag>Gag	p.K278E	RP11-468E2.2_ENST00000561419.1_3'UTR	NM_024658.3	NP_078934.3	Q8TEX9	IPO4_HUMAN	importin 4	278					intracellular protein transport	cytoplasm|nucleus	protein binding|protein transporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|stomach(2)|urinary_tract(1)	33				GBM - Glioblastoma multiforme(265;0.0087)		ACCTTGCTCTTGACTTTGACC	0.493													31	30					0	0	1	0	0	C	24655922	T	C	24655922	3	2	479	1	0	0	0	0	1	0	0	0	7839	1821	63	3	2501	3	IPO4	14	24655922	Missense_Mutation	SNP	T	TCGA-TQ-A7RI-01A-11D-A33T-08		24655922	82693618	22	36986											
CCDC135	84229	broad.mit.edu	37	16	57760786	57760786	+	Missense_Mutation	SNP	G	G	A	rs141535311		TCGA-TQ-A7RI-01A-11D-A33T-08	TCGA-TQ-A7RI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92fdb7b7-7e35-48a7-a00c-a63753726d81	c8b7a13a-9f33-4121-91a7-ad79b54b9070	g.chr16:57760786G>A	ENST00000360716.3	+	15	2238	c.2017G>A	c.(2017-2019)Gag>Aag	p.E673K	CCDC135_ENST00000336825.8_Missense_Mutation_p.E608K|CCDC135_ENST00000394337.4_Missense_Mutation_p.E673K			Q8IY82	CC135_HUMAN	coiled-coil domain containing 135	673						cytoplasm				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						CTACCAGTACGAGGCCATGAT	0.582													17	34					0	0	1	0	0	A	57760786	G	A	57760786	3	1	479	1	0	0	0	0	1	0	0	0	2787	1059	37	1	2067	1	CCDC135	16	57760786	Missense_Mutation	SNP	G	TCGA-TQ-A7RI-01A-11D-A33T-08		57760786	32593967	23	36987											
NF1	4763	broad.mit.edu	37	17	29553521	29553521	+	Silent	SNP	C	C	G			TCGA-TQ-A7RI-01A-11D-A33T-08	TCGA-TQ-A7RI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92fdb7b7-7e35-48a7-a00c-a63753726d81	c8b7a13a-9f33-4121-91a7-ad79b54b9070	g.chr17:29553521C>G	ENST00000358273.4	+	18	2453	c.2070C>G	c.(2068-2070)gcC>gcG	p.A690A	NF1_ENST00000356175.3_Silent_p.A690A	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	690					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TAGAAGTGGCCCTGTACATGT	0.542			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			4	115					0	0	1	0	0	G	29553521	C	G	29553521	2	3	479	1	0	0	0	0	0	0	0	1	10403	610	22	5		5	NF1	17	29553521	Silent	SNP	C	TCGA-TQ-A7RI-01A-11D-A33T-08		29553521	51641689	24	36988			1	51		2	2	30	C		3.091361e-05
NF1	4763	broad.mit.edu	37	17	29553550	29553550	+	Missense_Mutation	SNP	C	C	G			TCGA-TQ-A7RI-01A-11D-A33T-08	TCGA-TQ-A7RI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92fdb7b7-7e35-48a7-a00c-a63753726d81	c8b7a13a-9f33-4121-91a7-ad79b54b9070	g.chr17:29553550C>G	ENST00000358273.4	+	18	2482	c.2099C>G	c.(2098-2100)aCt>aGt	p.T700S	NF1_ENST00000356175.3_Missense_Mutation_p.T700S	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	700					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(4)|p.T700S(1)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		AACCCTGACACTGAAGCTGTT	0.552			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			5	144					0	0	1	0	0	G	29553550	C	G	29553550	3	3	479	1	0	0	0	0	1	0	0	0	10403	565	20	4	2230	4	NF1	17	29553550	Missense_Mutation	SNP	C	TCGA-TQ-A7RI-01A-11D-A33T-08	29	29553550	51641660	25	36989			1	51		2	2	30	C		3.091361e-05
CIC	23152	broad.mit.edu	37	19	42790954	42790955	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-TQ-A7RI-01A-11D-A33T-08	TCGA-TQ-A7RI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92fdb7b7-7e35-48a7-a00c-a63753726d81	c8b7a13a-9f33-4121-91a7-ad79b54b9070	g.chr19:42790954_42790955delTG	ENST00000572681.2	+	3	2894_2895	c.2826_2827delTG	c.(2824-2829)gctgtgfs	p.V943fs	CIC_ENST00000160740.3_Frame_Shift_Del_p.V34fs|CIC_ENST00000575354.2_Frame_Shift_Del_p.V34fs|CIC_ENST00000575839.2_3'UTR			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	34	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				GCTCTGTGGCTGTGTTCCCTTG	0.644			"Mis, F, S"		oligodendroglioma								18	52	---	---	---	---						-	42790955	TG	-	42790954	7	5	479	1	0	1	0	1	0	0	0	0	3446	1567	55	0	105	0	CIC	19	42790954	Frame_Shift_Del	DEL	TG	TCGA-TQ-A7RI-01A-11D-A33T-08		42790954	16338029	26	36990											
CIC	23152	broad.mit.edu	37	19	42791853	42791853	+	Nonsense_Mutation	SNP	C	C	T			TCGA-TQ-A7RI-01A-11D-A33T-08	TCGA-TQ-A7RI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92fdb7b7-7e35-48a7-a00c-a63753726d81	c8b7a13a-9f33-4121-91a7-ad79b54b9070	g.chr19:42791853C>T	ENST00000572681.2	+	6	3534	c.3466C>T	c.(3466-3468)Cag>Tag	p.Q1156*	CIC_ENST00000160740.3_Nonsense_Mutation_p.Q247*|CIC_ENST00000575354.2_Nonsense_Mutation_p.Q247*			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	247	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CAAGGAGAAGCAGAAGTACCA	0.632			"Mis, F, S"		oligodendroglioma								5	76					0	0	1	0	0	T	42791853	C	T	42791853	4	4	479	1	0	0	0	0	0	1	0	0	3446	711	25	2	757	2	CIC	19	42791853	Nonsense_Mutation	SNP	C	TCGA-TQ-A7RI-01A-11D-A33T-08	899	42791853	16337130	27	36991											
KIR3DL3	115653	broad.mit.edu	37	19	55247442	55247442	+	Missense_Mutation	SNP	C	C	G			TCGA-TQ-A7RI-01A-11D-A33T-08	TCGA-TQ-A7RI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92fdb7b7-7e35-48a7-a00c-a63753726d81	c8b7a13a-9f33-4121-91a7-ad79b54b9070	g.chr19:55247442C>G	ENST00000291860.1	+	8	1130	c.1112C>G	c.(1111-1113)tCt>tGt	p.S371C	KIR2DL4_ENST00000396284.2_Intron|CTB-61M7.1_ENST00000400864.3_RNA|KIR3DL1_ENST00000402254.2_Intron|KIR3DL1_ENST00000538269.1_Intron|KIR3DL1_ENST00000541392.1_Intron	NM_153443.3	NP_703144.2	Q8N743	KI3L3_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 3	371						integral to membrane|plasma membrane	receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(3)|prostate(1)|skin(1)	21				GBM - Glioblastoma multiforme(193;0.0192)		CTCCAGGACTCTGATGAACAA	0.537													4	155					0	0	1	0	0	G	55247442	C	G	55247442	3	3	479	1	0	0	0	0	1	0	0	0	8365	913	32	4	1142	4	KIR3DL3	19	55247442	Missense_Mutation	SNP	C	TCGA-TQ-A7RI-01A-11D-A33T-08	12455589	55247442	3881541	28	36992											
ZNF74	7625	broad.mit.edu	37	22	20761037	20761037	+	Missense_Mutation	SNP	A	A	G			TCGA-TQ-A7RI-01A-11D-A33T-08	TCGA-TQ-A7RI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92fdb7b7-7e35-48a7-a00c-a63753726d81	c8b7a13a-9f33-4121-91a7-ad79b54b9070	g.chr22:20761037A>G	ENST00000400451.2	+	5	2228	c.1714A>G	c.(1714-1716)Act>Gct	p.T572A	ZNF74_ENST00000356671.5_Missense_Mutation_p.T572A|ZNF74_ENST00000357502.5_3'UTR|ZNF74_ENST00000405993.1_Missense_Mutation_p.T540A|ZNF74_ENST00000403682.3_3'UTR	NM_003426.3	NP_003417.2	Q16587	ZNF74_HUMAN	zinc finger protein 74	572					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	actin cytoskeleton|nucleus	DNA binding|RNA binding|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19	Melanoma(16;0.000465)|Ovarian(15;0.0025)|Colorectal(54;0.0221)|all_neural(72;0.219)	Lung SC(17;0.0262)|all_lung(157;0.248)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			CTCGCACCTCACTGAGCACCA	0.542													50	66					0	0	1	0	0	G	20761037	A	G	20761037	3	3	479	1	0	0	0	0	1	0	0	0	18177	159	6	3	1732	3	ZNF74	22	20761037	Missense_Mutation	SNP	A	TCGA-TQ-A7RI-01A-11D-A33T-08		20761037	30543529	29	36993											
LGALS1	3956	broad.mit.edu	37	22	38073059	38073059	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RI-01A-11D-A33T-08	TCGA-TQ-A7RI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92fdb7b7-7e35-48a7-a00c-a63753726d81	c8b7a13a-9f33-4121-91a7-ad79b54b9070	g.chr22:38073059C>T	ENST00000215909.5	+	2	171	c.76C>T	c.(76-78)Cct>Tct	p.P26S	LGALS1_ENST00000489315.1_3'UTR	NM_002305.3	NP_002296.1	P09382	LEG1_HUMAN	lectin, galactoside-binding, soluble, 1	26	Galectin.				apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of apoptosis	cytoplasm|extracellular space|proteinaceous extracellular matrix	galactoside binding|signal transducer activity			endometrium(1)|large_intestine(1)|lung(1)	3	Melanoma(58;0.0574)					CGAGGTGGCTCCTGACGCTAA	0.657													24	37					0	0	1	0	0	T	38073059	C	T	38073059	3	4	479	1	0	0	0	0	1	0	0	0	8777	855	30	2	82	2	LGALS1	22	38073059	Missense_Mutation	SNP	C	TCGA-TQ-A7RI-01A-11D-A33T-08	17312022	38073059	13231507	30	36994											
UTP14A	10813	broad.mit.edu	37	X	129042694	129042694	+	Silent	SNP	C	C	T			TCGA-TQ-A7RI-01A-11D-A33T-08	TCGA-TQ-A7RI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92fdb7b7-7e35-48a7-a00c-a63753726d81	c8b7a13a-9f33-4121-91a7-ad79b54b9070	g.chrX:129042694C>T	ENST00000394422.3	+	4	250	c.222C>T	c.(220-222)ttC>ttT	p.F74F	UTP14A_ENST00000425117.2_Silent_p.F74F|UTP14A_ENST00000371051.5_Intron|RP4-537K23.4_ENST00000432062.1_RNA	NM_006649.3	NP_006640.2	Q9BVJ6	UT14A_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein, homolog A (yeast)	74					rRNA processing	nucleolus|small-subunit processome	protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(16)|ovary(3)|urinary_tract(1)	32						TGTCAGAGTTCAATGTCAGTT	0.443													24	550					0	0	1	0	0	T	129042694	C	T	129042694	2	4	479	1	0	0	0	0	0	0	0	1	17155	825	29	2		2	UTP14A	23	129042694	Silent	SNP	C	TCGA-TQ-A7RI-01A-11D-A33T-08		129042694	26227866	31	36995											
ATP11C	286410	broad.mit.edu	37	X	138879424	138879424	+	Missense_Mutation	SNP	T	T	C			TCGA-TQ-A7RI-01A-11D-A33T-08	TCGA-TQ-A7RI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92fdb7b7-7e35-48a7-a00c-a63753726d81	c8b7a13a-9f33-4121-91a7-ad79b54b9070	g.chrX:138879424T>C	ENST00000370557.1	-	11	1946	c.919A>G	c.(919-921)Act>Gct	p.T307A	ATP11C_ENST00000460773.1_5'UTR|ATP11C_ENST00000370543.1_Missense_Mutation_p.T310A|ATP11C_ENST00000327569.3_Missense_Mutation_p.T310A|ATP11C_ENST00000361648.2_Missense_Mutation_p.T310A|ATP11C_ENST00000359686.2_Missense_Mutation_p.T310A			Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C	310					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)					TTTAGAGTAGTGCATACTGCA	0.338													89	139					0	0	1	0	0	C	138879424	T	C	138879424	3	2	479	1	0	0	0	0	1	0	0	0	1120	1696	59	3	2613	3	ATP11C	23	138879424	Missense_Mutation	SNP	T	TCGA-TQ-A7RI-01A-11D-A33T-08	9836730	138879424	16391136	32	36996											
CETN2	1069	broad.mit.edu	37	X	151997187	151997187	+	Missense_Mutation	SNP	T	T	C			TCGA-TQ-A7RI-01A-11D-A33T-08	TCGA-TQ-A7RI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92fdb7b7-7e35-48a7-a00c-a63753726d81	c8b7a13a-9f33-4121-91a7-ad79b54b9070	g.chrX:151997187T>C	ENST00000370277.3	-	4	389	c.323A>G	c.(322-324)aAa>aGa	p.K108R	CETN2_ENST00000493482.1_5'UTR	NM_004344.1	NP_004335.1	P41208	CETN2_HUMAN	centrin, EF-hand protein, 2	108	EF-hand 3.				cell division|centriole replication|G2/M transition of mitotic cell cycle|mitosis|nucleotide-excision repair|regulation of cytokinesis	centriole|cytosol|XPC complex	ATP binding|ATP-dependent helicase activity|calcium ion binding|nucleic acid binding			breast(1)|lung(4)|prostate(1)|skin(1)	7	Acute lymphoblastic leukemia(192;6.56e-05)					CTTGAAAGCTTTCAGGATTTC	0.433								Direct reversal of damage;Nucleotide excision repair (NER)					58	95					0	0	1	0	0	C	151997187	T	C	151997187	3	2	479	1	0	0	0	0	1	0	0	0	3297	1841	64	3	203	3	CETN2	23	151997187	Missense_Mutation	SNP	T	TCGA-TQ-A7RI-01A-11D-A33T-08	13117763	151997187	3273373	33	36997											
AGRN	375790	broad.mit.edu	37	1	978952	978952	+	Silent	SNP	C	C	T	rs142440782		TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr1:978952C>T	ENST00000379370.2	+	9	1688	c.1638C>T	c.(1636-1638)tgC>tgT	p.C546C		NM_198576.3	NP_940978.2	O00468	AGRIN_HUMAN	agrin	546	Kazal-like 6.				axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering	basal lamina	laminin binding|structural constituent of cytoskeleton			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		GAGCCCTGTGCGAGGCCGAGA	0.692													50	72					0	0	1	0	0	T	978952	C	T	978952	2	4	480	1	0	0	0	0	0	0	0	1	394	776	27	1		1	AGRN	1	978952	Silent	SNP	C	TCGA-TQ-A7RJ-01A-11D-A33T-08		978952	248271669	1	36998											
ITGA10	8515	broad.mit.edu	37	1	145533526	145533526	+	Missense_Mutation	SNP	C	C	G			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr1:145533526C>G	ENST00000369304.3	+	12	1584	c.1409C>G	c.(1408-1410)gCt>gGt	p.A470G	ITGA10_ENST00000539363.1_Missense_Mutation_p.A327G|ITGA10_ENST00000538811.1_Missense_Mutation_p.A339G	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN	integrin, alpha 10	470					cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity			NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					AAAGATGGGGCTGTGAGGGTT	0.587													5	89					0	0	1	0	0	G	145533526	C	G	145533526	3	3	480	1	0	0	0	0	1	0	0	0	7917	797	28	4	1455	4	ITGA10	1	145533526	Missense_Mutation	SNP	C	TCGA-TQ-A7RJ-01A-11D-A33T-08	144554574	145533526	103717095	2	36999											
DENND4B	9909	broad.mit.edu	37	1	153907309	153907309	+	Silent	SNP	C	C	T			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr1:153907309C>T	ENST00000361217.4	-	18	3118	c.2700G>A	c.(2698-2700)caG>caA	p.Q900Q		NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	900	Gln-rich.							p.Q788Q(1)|p.Q900Q(1)		NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			gctgctgttgctgctgctgct	0.642													4	142					0	0	1	0	0	T	153907309	C	T	153907309	2	4	480	1	0	0	0	0	0	0	0	1	4462	796	28	2		2	DENND4B	1	153907309	Silent	SNP	C	TCGA-TQ-A7RJ-01A-11D-A33T-08	8373783	153907309	95343312	3	37000											
SERPINC1	462	broad.mit.edu	37	1	173883867	173883867	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr1:173883867G>A	ENST00000367698.3	-	2	350	c.232C>T	c.(232-234)Cgg>Tgg	p.R78W	SERPINC1_ENST00000494024.1_5'UTR	NM_000488.3	NP_000479.1	P01008	ANT3_HUMAN	serpin peptidase inhibitor, clade C (antithrombin), member 1	78					blood coagulation|regulation of proteolysis	extracellular space|plasma membrane	heparin binding|protease binding|serine-type endopeptidase inhibitor activity			NS(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(15)|ovary(1)	25					Enoxaparin(DB01225)|Fondaparinux sodium(DB00569)|Heparin(DB01109)	CAGACACGCCGGTTGGTGGCC	0.527											OREG0013990	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	316					0	0	1	0	0	A	173883867	G	A	173883867	3	1	480	1	0	0	0	0	1	0	0	0	14163	1115	39	1	1186	1	SERPINC1	1	173883867	Missense_Mutation	SNP	G	TCGA-TQ-A7RJ-01A-11D-A33T-08	19976558	173883867	75366754	4	37001											
PLD5	200150	broad.mit.edu	37	1	242253223	242253223	+	Missense_Mutation	SNP	T	T	A			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr1:242253223T>A	ENST00000536534.2	-	10	1785	c.1544A>T	c.(1543-1545)aAa>aTa	p.K515I	PLD5_ENST00000427495.1_Missense_Mutation_p.K453I|PLD5_ENST00000442594.2_Missense_Mutation_p.K423I			Q8N7P1	PLD5_HUMAN	phospholipase D family, member 5							integral to membrane	catalytic activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(22)|ovary(6)|skin(3)|urinary_tract(1)	55	Melanoma(84;0.242)		OV - Ovarian serous cystadenocarcinoma(106;0.0329)			GGGTTTGAGTTTGAACAGGCT	0.458													18	483					0	0	1	0	0	A	242253223	T	A	242253223	3	1	480	1	0	0	0	0	1	0	0	0	12097	1841	64	5	70	5	PLD5	1	242253223	Missense_Mutation	SNP	T	TCGA-TQ-A7RJ-01A-11D-A33T-08	68369356	242253223	6997398	5	37002											
DNMT3A	1788	broad.mit.edu	37	2	25467117	25467117	+	Silent	SNP	G	G	A			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr2:25467117G>A	ENST00000264709.3	-	15	2095	c.1758C>T	c.(1756-1758)tgC>tgT	p.C586C	DNMT3A_ENST00000402667.1_Silent_p.C363C|DNMT3A_ENST00000321117.5_Silent_p.C586C|DNMT3A_ENST00000474887.1_5'UTR|DNMT3A_ENST00000380746.4_Silent_p.C397C	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	586	ADD.|Interaction with the PRC2/EED-EZH2 complex (By similarity).				regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCTTGTGCCCGCACATGTAGC	0.612			"Mis, F, N, S"		AML								25	44					0	0	1	0	0	A	25467117	G	A	25467117	2	1	480	1	0	0	0	0	0	0	0	1	4703	1079	38	1		1	DNMT3A	2	25467117	Silent	SNP	G	TCGA-TQ-A7RJ-01A-11D-A33T-08		25467117	217732256	6	37003											
CCDC85A	114800	broad.mit.edu	37	2	56420286	56420286	+	Silent	SNP	C	C	T			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr2:56420286C>T	ENST00000407595.2	+	2	1453	c.951C>T	c.(949-951)ttC>ttT	p.F317F	RP11-482H16.1_ENST00000607540.1_RNA	NM_001080433.1	NP_001073902.1	Q96PX6	CC85A_HUMAN	coiled-coil domain containing 85A	317	His-rich.									breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)	38			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			CGGAACACTTCCAGAAGCACC	0.642													5	219					0	0	1	0	0	T	56420286	C	T	56420286	2	4	480	1	0	0	0	0	0	0	0	1	2879	854	30	2		2	CCDC85A	2	56420286	Silent	SNP	C	TCGA-TQ-A7RJ-01A-11D-A33T-08	30953169	56420286	186779087	7	37004											
FOXD4L1	200350	broad.mit.edu	37	2	114257270	114257270	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr2:114257270G>A	ENST00000306507.5	+	1	610	c.437G>A	c.(436-438)cGc>cAc	p.R146H		NM_012184.4	NP_036316.1	Q9NU39	FX4L1_HUMAN	forkhead box D4-like 1	146					axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(2)	26						TACTACCGCCGCAAGTTCCCC	0.647													5	492					0	0	1	0	0	A	114257270	G	A	114257270	3	1	480	1	0	0	0	0	1	0	0	0	6033	1087	38	1	439	1	FOXD4L1	2	114257270	Missense_Mutation	SNP	G	TCGA-TQ-A7RJ-01A-11D-A33T-08	57836984	114257270	128942103	8	37005											
NCKAP5	344148	broad.mit.edu	37	2	133541832	133541832	+	Missense_Mutation	SNP	T	T	G			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr2:133541832T>G	ENST00000409261.1	-	14	2925	c.2552A>C	c.(2551-2553)gAg>gCg	p.E851A	NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000317721.6_Missense_Mutation_p.E851A	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	851							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						CCCTGAGCTCTCAGTCTTCAT	0.537													7	244					0	0	1	0	0	G	133541832	T	G	133541832	3	3	480	1	0	0	0	0	1	0	0	0	10270	1551	54	5	3205	5	NCKAP5	2	133541832	Missense_Mutation	SNP	T	TCGA-TQ-A7RJ-01A-11D-A33T-08	19284562	133541832	109657541	9	37006											
TTN	7273	broad.mit.edu	37	2	179484780	179484780	+	Missense_Mutation	SNP	T	T	C			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr2:179484780T>C	ENST00000589042.1	-	249	46588	c.46364A>G	c.(46363-46365)gAt>gGt	p.D15455G	TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D12887G|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D6515G|TTN_ENST00000460472.2_Missense_Mutation_p.D6390G|TTN-AS1_ENST00000604956.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D6582G|TTN_ENST00000591111.1_Missense_Mutation_p.D13814G|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000456053.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	13814	Fibronectin type-III 12.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACACTCATCATCCAGCCTGCA	0.363													5	131					0	0	1	0	0	C	179484780	T	C	179484780	3	2	480	1	0	0	0	0	1	0	0	0	16797	1435	50	3	61785	3	TTN	2	179484780	Missense_Mutation	SNP	T	TCGA-TQ-A7RJ-01A-11D-A33T-08	45942948	179484780	63714593	10	37007											
IDH1	3417	broad.mit.edu	37	2	209113113	209113113	+	Missense_Mutation	SNP	G	G	C	rs121913499		TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr2:209113113G>C	ENST00000415913.1	-	4	775	c.394C>G	c.(394-396)Cgt>Ggt	p.R132G	IDH1_ENST00000345146.2_Missense_Mutation_p.R132G|IDH1_ENST00000446179.1_Missense_Mutation_p.R132G	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		TAAGCATGACGACCTATGATG	0.398			Mis		gliobastoma								71	118					0	0	1	0	0	C	209113113	G	C	209113113	3	2	480	1	0	0	0	0	1	0	0	0	7538	1058	37	5	878	5	IDH1	2	209113113	Missense_Mutation	SNP	G	TCGA-TQ-A7RJ-01A-11D-A33T-08	29628333	209113113	34086260	11	37008											
CCDC39	339829	broad.mit.edu	37	3	180372584	180372584	+	Missense_Mutation	SNP	T	T	C			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr3:180372584T>C	ENST00000273654.4	-	13	1767	c.1148A>G	c.(1147-1149)gAc>gGc	p.D383G	CCDC39_ENST00000442201.2_Missense_Mutation_p.D299G			Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39	299					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium axoneme|cytoplasm|cytoskeleton				NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			AGTTTCATGGTCCTGATATGC	0.348													5	69					0	0	1	0	0	C	180372584	T	C	180372584	3	2	480	1	0	0	0	0	1	0	0	0	2830	1667	58	3	1985	3	CCDC39	3	180372584	Missense_Mutation	SNP	T	TCGA-TQ-A7RJ-01A-11D-A33T-08		180372584	17649846	12	37009											
PCDH18	54510	broad.mit.edu	37	4	138449670	138449670	+	Missense_Mutation	SNP	A	A	C			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr4:138449670A>C	ENST00000344876.4	-	3	3088	c.2702T>G	c.(2701-2703)tTc>tGc	p.F901C	PCDH18_ENST00000511115.1_Missense_Mutation_p.F81C|PCDH18_ENST00000412923.2_Missense_Mutation_p.F900C|PCDH18_ENST00000507846.1_Missense_Mutation_p.F680C|PCDH18_ENST00000510305.1_Missense_Mutation_p.F112C	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	901	Interaction with DAB1 (By similarity).				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					CAGGTCGCTGAATCCTTCACC	0.443													16	391					0	0	1	0	0	C	138449670	A	C	138449670	3	2	480	1	0	0	0	0	1	0	0	0	11560	246	9	5	713	5	PCDH18	4	138449670	Missense_Mutation	SNP	A	TCGA-TQ-A7RJ-01A-11D-A33T-08		138449670	52704606	13	37010											
ELF2	1998	broad.mit.edu	37	4	139980298	139980298	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr4:139980298C>T	ENST00000394235.2	-	10	2087	c.1585G>A	c.(1585-1587)Gca>Aca	p.A529T	ELF2_ENST00000515489.1_Intron|ELF2_ENST00000265495.4_Missense_Mutation_p.A529T|ELF2_ENST00000379549.2_Missense_Mutation_p.A452T|ELF2_ENST00000379550.1_Missense_Mutation_p.A541T|ELF2_ENST00000358635.3_Missense_Mutation_p.A481T|ELF2_ENST00000510408.1_Missense_Mutation_p.A469T	NM_001276458.1	NP_001263387.1	Q15723	ELF2_HUMAN	E74-like factor 2 (ets domain transcription factor)	541					negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	cytoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	19	all_hematologic(180;0.162)					TGCTTTTTTGCCACTGCTTCC	0.468													5	533					0	0	1	0	0	T	139980298	C	T	139980298	3	4	480	1	0	0	0	0	1	0	0	0	5082	739	26	2	164	2	ELF2	4	139980298	Missense_Mutation	SNP	C	TCGA-TQ-A7RJ-01A-11D-A33T-08	1530628	139980298	51173978	14	37011											
GOLPH3	64083	broad.mit.edu	37	5	32126618	32126618	+	Missense_Mutation	SNP	C	C	G			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr5:32126618C>G	ENST00000265070.6	-	4	912	c.597G>C	c.(595-597)atG>atC	p.M199I		NM_022130.3	NP_071413.1	Q9H4A6	GOLP3_HUMAN	golgi phosphoprotein 3 (coat-protein)	199					cell proliferation|positive regulation of TOR signaling cascade|regulation of mitochondrion organization	cytosol|endosome|Golgi cisterna membrane|mitochondrial intermembrane space|plasma membrane|trans-Golgi network	protein binding			kidney(2)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	11						GATGTGTTGTCATGTCAAAAA	0.428													16	423					0	0	1	0	0	G	32126618	C	G	32126618	3	3	480	1	0	0	0	0	1	0	0	0	6607	826	29	5	303	5	GOLPH3	5	32126618	Missense_Mutation	SNP	C	TCGA-TQ-A7RJ-01A-11D-A33T-08		32126618	148788642	15	37012											
PHACTR1	221692	broad.mit.edu	37	6	13273136	13273136	+	Missense_Mutation	SNP	A	A	G			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr6:13273136A>G	ENST00000379350.1	+	10	1565	c.1436A>G	c.(1435-1437)aAc>aGc	p.N479S	PHACTR1_ENST00000457702.2_Missense_Mutation_p.N334S|RP1-257A7.4_ENST00000606627.1_RNA|PHACTR1_ENST00000379335.3_Missense_Mutation_p.N43S|PHACTR1_ENST00000332995.7_Missense_Mutation_p.N479S|PHACTR1_ENST00000379329.1_Missense_Mutation_p.N43S			Q9C0D0	PHAR1_HUMAN	phosphatase and actin regulator 1	479						cell junction|cytoplasm|synapse	actin binding|protein phosphatase inhibitor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)			GAACAGAGGAACATTTTGAAA	0.463													15	380					0	0	1	0	0	G	13273136	A	G	13273136	3	3	480	1	0	0	0	0	1	0	0	0	11857	43	2	3	1470	3	PHACTR1	6	13273136	Missense_Mutation	SNP	A	TCGA-TQ-A7RJ-01A-11D-A33T-08		13273136	157841931	16	37013											
GMPR	2766	broad.mit.edu	37	6	16290835	16290835	+	Silent	SNP	A	A	G			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr6:16290835A>G	ENST00000259727.4	+	8	954	c.840A>G	c.(838-840)ggA>ggG	p.G280G	GMPR_ENST00000544145.1_3'UTR	NM_006877.3	NP_006868.3	P36959	GMPR1_HUMAN	guanosine monophosphate reductase	280					nucleotide metabolic process|purine base metabolic process|purine-containing compound salvage|response to cold	cytosol	GMP reductase activity|metal ion binding			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	20	Breast(50;0.0427)|Ovarian(93;0.103)	all_hematologic(90;0.0895)				AGCACGCAGGAGGAGTTGCTG	0.572													11	188					0	0	1	0	0	G	16290835	A	G	16290835	2	3	480	1	0	0	0	0	0	0	0	1	6538	291	11	3		3	GMPR	6	16290835	Silent	SNP	A	TCGA-TQ-A7RJ-01A-11D-A33T-08	3017699	16290835	154824232	17	37014											
LRRC16A	55604	broad.mit.edu	37	6	25610405	25610405	+	Silent	SNP	G	G	A			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr6:25610405G>A	ENST00000329474.6	+	36	4343	c.3975G>A	c.(3973-3975)caG>caA	p.Q1325Q	LRRC16A_ENST00000476458.1_3'UTR	NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN	leucine rich repeat containing 16A	1325					actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process	cytosol|lamellipodium|nucleus				breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						CATTTTCACAGGAAGGTAAGG	0.458													4	113					0	0	1	0	0	A	25610405	G	A	25610405	2	1	480	1	0	0	0	0	0	0	0	1	9016	991	35	2		2	LRRC16A	6	25610405	Silent	SNP	G	TCGA-TQ-A7RJ-01A-11D-A33T-08	9319570	25610405	145504662	18	37015											
HIST1H3B	8358	broad.mit.edu	37	6	26031889	26031889	+	Missense_Mutation	SNP	C	C	G			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr6:26031889C>G	ENST00000244661.2	-	1	399	c.400G>C	c.(400-402)Gaa>Caa	p.E134Q		NM_003537.3	NP_003528.1	P68431	H31_HUMAN	histone cluster 1, H3b	134					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			breast(3)|central_nervous_system(10)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	25						TACGCTCTTTCTCCGCGAATG	0.458													8	142					0	0	1	0	0	G	26031889	C	G	26031889	3	3	480	1	0	0	0	0	1	0	0	0	7197	922	32	4	14	4	HIST1H3B	6	26031889	Missense_Mutation	SNP	C	TCGA-TQ-A7RJ-01A-11D-A33T-08	421484	26031889	145083178	19	37016											
BAK1	578	broad.mit.edu	37	6	33543651	33543651	+	Missense_Mutation	SNP	C	C	T	rs1051911		TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr6:33543651C>T	ENST00000374467.3	-	3	373	c.125G>A	c.(124-126)cGc>cAc	p.R42H	BAK1_ENST00000442998.2_Missense_Mutation_p.R42H|BAK1_ENST00000360661.5_Missense_Mutation_p.R42H	NM_001188.3	NP_001179.1	Q16611	BAK_HUMAN	BCL2-antagonist/killer 1	42			R -> H (in dbSNP:rs1051911).		activation of pro-apoptotic gene products|cellular response to mechanical stimulus|cellular response to UV|establishment or maintenance of transmembrane electrochemical gradient|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|regulation of mitochondrial membrane permeability|regulation of mitochondrial membrane potential|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|release of cytochrome c from mitochondria	integral to mitochondrial outer membrane|pore complex	metal ion binding|protein heterodimerization activity			large_intestine(1)|lung(1)|ovary(1)|skin(1)	4						CTGCTGATGGCGGTAAAAAAC	0.602													62	108					0	0	1	0	0	T	33543651	C	T	33543651	3	4	480	1	0	0	0	0	1	0	0	0	1303	768	27	1	526	1	BAK1	6	33543651	Missense_Mutation	SNP	C	TCGA-TQ-A7RJ-01A-11D-A33T-08	7511762	33543651	137571416	20	37017											
NR2E1	7101	broad.mit.edu	37	6	108492765	108492765	+	Silent	SNP	C	C	T			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr6:108492765C>T	ENST00000368986.4	+	2	837	c.129C>T	c.(127-129)agC>agT	p.S43S	NR2E1_ENST00000368983.3_Silent_p.S80S	NM_003269.3	NP_003260.1	Q9Y466	NR2E1_HUMAN	nuclear receptor subfamily 2, group E, member 1	43					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(16)|prostate(1)|skin(3)	30		all_cancers(87;8.13e-05)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00866)|Colorectal(196;0.0637)		BRCA - Breast invasive adenocarcinoma(108;0.013)|Epithelial(106;0.0521)|all cancers(137;0.068)|OV - Ovarian serous cystadenocarcinoma(136;0.0689)		TCAAACGGAGCATCCGAAGGA	0.557													13	335					0	0	1	0	0	T	108492765	C	T	108492765	2	4	480	1	0	0	0	0	0	0	0	1	10673	709	25	2		2	NR2E1	6	108492765	Silent	SNP	C	TCGA-TQ-A7RJ-01A-11D-A33T-08	74949114	108492765	62622302	21	37018											
BCLAF1	9774	broad.mit.edu	37	6	136596819	136596819	+	Missense_Mutation	SNP	T	T	C			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr6:136596819T>C	ENST00000531224.1	-	6	1955	c.1703A>G	c.(1702-1704)gAc>gGc	p.D568G	BCLAF1_ENST00000392348.2_Missense_Mutation_p.D566G|BCLAF1_ENST00000530767.1_Missense_Mutation_p.D395G|BCLAF1_ENST00000527536.1_Missense_Mutation_p.D568G|BCLAF1_ENST00000353331.4_Missense_Mutation_p.D566G|BCLAF1_ENST00000527759.1_Missense_Mutation_p.D566G	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	568					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	p.D568G(1)		haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		AAGCAGCCTGTCTTTAGTCAA	0.388													21	305					0	0	1	0	0	C	136596819	T	C	136596819	3	2	480	1	0	0	0	0	1	0	0	0	1381	1667	58	3	1091	3	BCLAF1	6	136596819	Missense_Mutation	SNP	T	TCGA-TQ-A7RJ-01A-11D-A33T-08	28104054	136596819	34518248	22	37019											
UTRN	7402	broad.mit.edu	37	6	144878380	144878380	+	Missense_Mutation	SNP	G	G	C			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr6:144878380G>C	ENST00000367545.3	+	49	7222	c.7222G>C	c.(7222-7224)Gat>Cat	p.D2408H		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	2408					muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		ATATGGGAGTGATGACACAAG	0.438													7	119					0	0	1	0	0	C	144878380	G	C	144878380	3	2	480	1	0	0	0	0	1	0	0	0	17163	1290	45	5	7416	5	UTRN	6	144878380	Missense_Mutation	SNP	G	TCGA-TQ-A7RJ-01A-11D-A33T-08	8281561	144878380	26236687	23	37020											
MUC17	140453	broad.mit.edu	37	7	100683618	100683618	+	Missense_Mutation	SNP	G	G	T			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr7:100683618G>T	ENST00000306151.4	+	3	8985	c.8921G>T	c.(8920-8922)gGt>gTt	p.G2974V		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2974	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					ACTGCTGAAGGTACCAGCATG	0.517													7	810					8.12818e-05	8.46337e-05	1	1	0	T	100683618	G	T	100683618	3	4	480	1	0	0	0	0	1	0	0	0	10022	1261	44	5	8931	5	MUC17	7	100683618	Missense_Mutation	SNP	G	TCGA-TQ-A7RJ-01A-11D-A33T-08		100683618	58455045	24	37021											
PPP1R3A	5506	broad.mit.edu	37	7	113518831	113518831	+	Silent	SNP	C	C	T	rs34610491	byFrequency	TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr7:113518831C>T	ENST00000284601.3	-	4	2384	c.2316G>A	c.(2314-2316)gcG>gcA	p.A772A		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	772					glycogen metabolic process	integral to membrane		p.A772A(1)		NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						GTGGATCAAACGCTGTTTCCT	0.408													14	301					0	0	1	0	0	T	113518831	C	T	113518831	2	4	480	1	0	0	0	0	0	0	0	1	12420	523	19	1		1	PPP1R3A	7	113518831	Silent	SNP	C	TCGA-TQ-A7RJ-01A-11D-A33T-08	12835213	113518831	45619832	25	37022											
NRF1	4899	broad.mit.edu	37	7	129357111	129357111	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr7:129357111C>T	ENST00000393232.1	+	9	1235	c.1118C>T	c.(1117-1119)aCg>aTg	p.T373M	NRF1_ENST00000393230.2_Missense_Mutation_p.T373M|NRF1_ENST00000311967.2_Missense_Mutation_p.T373M|NRF1_ENST00000539636.1_Missense_Mutation_p.T212M|NRF1_ENST00000393231.3_Missense_Mutation_p.T373M|NRF1_ENST00000223190.4_Missense_Mutation_p.T373M|NRF1_ENST00000353868.4_Missense_Mutation_p.T307M	NM_005011.3	NP_005002.3	Q16656	NRF1_HUMAN	nuclear respiratory factor 1	373	Required for transcriptional activation.				generation of precursor metabolites and energy|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding			breast(2)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	24						ATCCAGACGACGCAAGCATCA	0.537													7	117					0	0	1	0	0	T	129357111	C	T	129357111	3	4	480	1	0	0	0	0	1	0	0	0	10694	536	19	1	1148	1	NRF1	7	129357111	Missense_Mutation	SNP	C	TCGA-TQ-A7RJ-01A-11D-A33T-08	15838280	129357111	29781552	26	37023											
DLC1	10395	broad.mit.edu	37	8	12957624	12957624	+	Missense_Mutation	SNP	C	C	G			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr8:12957624C>G	ENST00000276297.4	-	9	2631	c.2222G>C	c.(2221-2223)aGc>aCc	p.S741T	DLC1_ENST00000358919.2_Missense_Mutation_p.S304T|DLC1_ENST00000512044.2_Missense_Mutation_p.S338T|DLC1_ENST00000520226.1_Missense_Mutation_p.S230T	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1	741	Poly-Ser.				actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						GCTGCTGCTGCTGGTCTGCGT	0.627													4	136					0	0	1	0	0	G	12957624	C	G	12957624	3	3	480	1	0	0	0	0	1	0	0	0	4578	797	28	4	2404	4	DLC1	8	12957624	Missense_Mutation	SNP	C	TCGA-TQ-A7RJ-01A-11D-A33T-08		12957624	133406398	27	37024											
DOCK5	80005	broad.mit.edu	37	8	25261108	25261108	+	Missense_Mutation	SNP	C	C	T	rs144175383	byFrequency	TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr8:25261108C>T	ENST00000276440.7	+	48	5005	c.4961C>T	c.(4960-4962)aCg>aTg	p.T1654M		NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	1654						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		CAAAGCCGCACGGGGTCTATT	0.532													12	462					0	0	1	0	0	T	25261108	C	T	25261108	3	4	480	1	0	0	0	0	1	0	0	0	4717	536	19	1	5151	1	DOCK5	8	25261108	Missense_Mutation	SNP	C	TCGA-TQ-A7RJ-01A-11D-A33T-08	12303484	25261108	121102914	28	37025											
SNTB1	6641	broad.mit.edu	37	8	121823847	121823847	+	Silent	SNP	C	C	A			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr8:121823847C>A	ENST00000395601.3	-	2	651	c.237G>T	c.(235-237)gcG>gcT	p.A79A	SNTB1_ENST00000517992.1_Silent_p.A79A	NM_021021.3	NP_066301.1	Q13884	SNTB1_HUMAN	syntrophin, beta 1 (dystrophin-associated protein A1, 59kDa, basic component 1)	79	PH 1.				muscle contraction	cell junction|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|calmodulin binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(6)	24	Lung NSC(37;4.46e-09)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)		STAD - Stomach adenocarcinoma(47;0.00503)			gcgcgccgcccgcgcccgggt	0.741													3	19					0.115264	0.116417	1	1	0	A	121823847	C	A	121823847	2	1	480	1	0	0	0	0	0	0	0	1	14926	639	23	5		5	SNTB1	8	121823847	Silent	SNP	C	TCGA-TQ-A7RJ-01A-11D-A33T-08	96562739	121823847	24540175	29	37026											
SFMBT2	57713	broad.mit.edu	37	10	7214023	7214023	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr10:7214023G>A	ENST00000361972.4	-	19	2339	c.2249C>T	c.(2248-2250)gCg>gTg	p.A750V	SFMBT2_ENST00000397167.1_Missense_Mutation_p.A750V	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	750					regulation of transcription, DNA-dependent	nucleus				NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						GGGCACCTCCGCCGACGAGGT	0.721													4	32					0	0	1	0	0	A	7214023	G	A	7214023	3	1	480	1	0	0	0	0	1	0	0	0	14212	1087	38	1	447	1	SFMBT2	10	7214023	Missense_Mutation	SNP	G	TCGA-TQ-A7RJ-01A-11D-A33T-08		7214023	128320724	30	37027											
ITGA8	8516	broad.mit.edu	37	10	15573098	15573098	+	Missense_Mutation	SNP	T	T	A			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr10:15573098T>A	ENST00000378076.3	-	28	3286	c.2933A>T	c.(2932-2934)aAg>aTg	p.K978M		NM_003638.1	NP_003629	P53708	ITA8_HUMAN	integrin, alpha 8	978					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						ATAAGGCATCTTCTTAACTTC	0.294													5	254					0	0	1	0	0	A	15573098	T	A	15573098	3	1	480	1	0	0	0	0	1	0	0	0	7926	1609	56	5	270	5	ITGA8	10	15573098	Missense_Mutation	SNP	T	TCGA-TQ-A7RJ-01A-11D-A33T-08	8359075	15573098	119961649	31	37028											
CUL2	8453	broad.mit.edu	37	10	35324207	35324207	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr10:35324207C>T	ENST00000374748.1	-	11	1208	c.895G>A	c.(895-897)Gtc>Atc	p.V299I	CUL2_ENST00000374746.1_Missense_Mutation_p.V299I|CUL2_ENST00000374751.3_Missense_Mutation_p.V299I|CUL2_ENST00000537177.1_Missense_Mutation_p.V318I|CUL2_ENST00000374749.3_Missense_Mutation_p.V299I|CUL2_ENST00000602371.1_Missense_Mutation_p.V242I|CUL2_ENST00000374742.1_Missense_Mutation_p.V299I			Q13617	CUL2_HUMAN	cullin 2	299					cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex	ubiquitin protein ligase binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|prostate(2)|skin(1)|urinary_tract(2)	31						CGGAGTAAGACGTACATATTT	0.428													54	104					0	0	1	0	0	T	35324207	C	T	35324207	3	4	480	1	0	0	0	0	1	0	0	0	4078	536	19	1	1390	1	CUL2	10	35324207	Missense_Mutation	SNP	C	TCGA-TQ-A7RJ-01A-11D-A33T-08	19751109	35324207	100210540	32	37029											
KCNMA1	3778	broad.mit.edu	37	10	78651416	78651416	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr10:78651416G>A	ENST00000286627.5	-	25	3987	c.3035C>T	c.(3034-3036)cCg>cTg	p.P1012L	KCNMA1_ENST00000404771.3_Missense_Mutation_p.P1070L|RP11-443A13.5_ENST00000595702.1_RNA|KCNMA1_ENST00000404857.1_Missense_Mutation_p.P1053L|KCNMA1_ENST00000354353.5_Missense_Mutation_p.P1073L|RP11-443A13.5_ENST00000429850.2_RNA|KCNMA1_ENST00000406533.3_Missense_Mutation_p.P1074L|RP11-443A13.5_ENST00000458661.2_RNA|KCNMA1_ENST00000372440.1_Missense_Mutation_p.P1012L|KCNMA1_ENST00000286628.8_Missense_Mutation_p.P1070L|KCNMA1_ENST00000372443.1_Missense_Mutation_p.P1039L	NM_001271519.1|NM_002247.3	NP_001258448.1|NP_002238.2	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1	1070					cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity			breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)	CTCCAGCTCCGGCGTGGCTCC	0.577													53	59					0	0	1	0	0	A	78651416	G	A	78651416	3	1	480	1	0	0	0	0	1	0	0	0	8117	1116	39	1	542	1	KCNMA1	10	78651416	Missense_Mutation	SNP	G	TCGA-TQ-A7RJ-01A-11D-A33T-08	43327209	78651416	56883331	33	37030											
SLIT1	6585	broad.mit.edu	37	10	98766462	98766462	+	Missense_Mutation	SNP	C	C	G			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr10:98766462C>G	ENST00000266058.4	-	32	3602	c.3357G>C	c.(3355-3357)gaG>gaC	p.E1119D	ARHGAP19-SLIT1_ENST00000453547.2_3'UTR|SLIT1_ENST00000371070.4_Missense_Mutation_p.E1119D	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	1119	EGF-like 5.				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)		GGGGAGGGATCTCACAGAGCT	0.577													14	41					0	0	1	0	0	G	98766462	C	G	98766462	3	3	480	1	0	0	0	0	1	0	0	0	14793	912	32	4	1271	4	SLIT1	10	98766462	Missense_Mutation	SNP	C	TCGA-TQ-A7RJ-01A-11D-A33T-08	20115046	98766462	36768285	34	37031											
SIRT3	23410	broad.mit.edu	37	11	236177	236177	+	Missense_Mutation	SNP	C	C	G			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr11:236177C>G	ENST00000382743.4	-	1	254	c.152G>C	c.(151-153)aGa>aCa	p.R51T	SIRT3_ENST00000529382.1_Intron|SIRT3_ENST00000525319.1_Intron|SIRT3_ENST00000524564.1_Missense_Mutation_p.R51T|SIRT3_ENST00000528702.1_Intron|SIRT3_ENST00000532956.1_Missense_Mutation_p.R51T	NM_001017524.2|NM_012239.5	NP_001017524.1|NP_036371.1	Q9NTG7	SIRT3_HUMAN	sirtuin 3	51					chromatin silencing|protein ADP-ribosylation|protein deacetylation	mitochondrial matrix	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|NAD+ ADP-ribosyltransferase activity|NAD+ binding|protein binding|zinc ion binding			endometrium(1)|lung(5)|urinary_tract(1)	7		all_cancers(49;1.58e-09)|all_epithelial(84;2.71e-06)|Breast(177;0.000162)|Ovarian(85;0.000626)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;3.66e-27)|Epithelial(43;2.02e-26)|OV - Ovarian serous cystadenocarcinoma(40;2.9e-21)|BRCA - Breast invasive adenocarcinoma(625;3.88e-05)|Lung(200;0.111)|LUSC - Lung squamous cell carcinoma(625;0.129)		ATGGCTGCCTCTCAGCCCCGC	0.726													4	7					0	0	1	0	0	G	236177	C	G	236177	3	3	480	1	0	0	0	0	1	0	0	0	14394	913	32	4	1075	4	SIRT3	11	236177	Missense_Mutation	SNP	C	TCGA-TQ-A7RJ-01A-11D-A33T-08		236177	134770339	35	37032											
OR4P4	81300	broad.mit.edu	37	11	55405846	55405846	+	Missense_Mutation	SNP	A	A	C			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr11:55405846A>C	ENST00000314612.2	+	1	13	c.13A>C	c.(13-15)Aat>Cat	p.N5H		NM_001004124.1	NP_001004124.1	Q8NGL7	OR4P4_HUMAN	olfactory receptor, family 4, subfamily P, member 4	5					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1)	40						GGAAAAAAGCAATAATAGCAC	0.308													138	211					0	0	1	0	0	C	55405846	A	C	55405846	3	2	480	1	0	0	0	0	1	0	0	0	11128	130	5	5	15	5	OR4P4	11	55405846	Missense_Mutation	SNP	A	TCGA-TQ-A7RJ-01A-11D-A33T-08	55169669	55405846	79600670	36	37033											
MS4A6A	64231	broad.mit.edu	37	11	59949056	59949056	+	Missense_Mutation	SNP	C	C	A			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr11:59949056C>A	ENST00000528851.1	-	2	285	c.145G>T	c.(145-147)Ggg>Tgg	p.G49W	MS4A6A_ENST00000533023.1_Missense_Mutation_p.G49W|MS4A6A_ENST00000323961.3_Missense_Mutation_p.G49W|MS4A6A_ENST00000426738.2_Missense_Mutation_p.G49W|MS4A6A_ENST00000530839.1_Missense_Mutation_p.G49W|MS4A6A_ENST00000532169.1_Missense_Mutation_p.G49W|MS4A6A_ENST00000420732.2_Missense_Mutation_p.G49W|MS4A6A_ENST00000412309.2_Missense_Mutation_p.G77W|MS4A6A_ENST00000529054.1_Missense_Mutation_p.G77W			Q9H2W1	M4A6A_HUMAN	membrane-spanning 4-domains, subfamily A, member 6A	49						integral to membrane	receptor activity			endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						AGATTTACCCCAATAACTTTG	0.478													5	233					0.000602214	0.00061438	1	1	0	A	59949056	C	A	59949056	3	1	480	1	0	0	0	0	1	0	0	0	9913	594	21	5	652	5	MS4A6A	11	59949056	Missense_Mutation	SNP	C	TCGA-TQ-A7RJ-01A-11D-A33T-08	4543210	59949056	75057460	37	37034											
AHNAK	79026	broad.mit.edu	37	11	62292927	62292927	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr11:62292927C>T	ENST00000378024.4	-	5	9236	c.8962G>A	c.(8962-8964)Gtg>Atg	p.V2988M	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	2988					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TCACCTTCCACTTTGGGCAGA	0.522													7	570					0	0	1	0	0	T	62292927	C	T	62292927	3	4	480	1	0	0	0	0	1	0	0	0	411	565	20	2	8830	2	AHNAK	11	62292927	Missense_Mutation	SNP	C	TCGA-TQ-A7RJ-01A-11D-A33T-08	2343871	62292927	72713589	38	37035											
GDPD4	220032	broad.mit.edu	37	11	76928312	76928315	+	Splice_Site	DEL	ATCT	ATCT	-			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr11:76928312_76928315delATCT	ENST00000376217.2	-	17	1791_1792	c.1541_1542delAGAT	c.(1540-1542)aag>a	p.K514fs	GDPD4_ENST00000315938.4_3'UTR			Q6W3E5	GDPD4_HUMAN	glycerophosphodiester phosphodiesterase domain containing 4	514					glycerol metabolic process|lipid metabolic process	integral to membrane	glycerophosphodiester phosphodiesterase activity|metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1)	20						CTATGTGCAAatctatctatctat	0.471													7	171	---	---	---	---						-	76928315	ATCT	-	76928312	8	5	480	1	0	1	0	1	0	0	1	0	6368	116	4	0		0	GDPD4	11	76928312	Splice_Site	DEL	ATCT	TCGA-TQ-A7RJ-01A-11D-A33T-08	14635385	76928312	58078204	39	37036											
KCTD21	283219	broad.mit.edu	37	11	77885166	77885166	+	Silent	SNP	G	G	A			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr11:77885166G>A	ENST00000340067.3	-	2	713	c.435C>T	c.(433-435)aaC>aaT	p.N145N	KCTD21-AS1_ENST00000600795.1_RNA	NM_001029859.1	NP_001025030.1	Q4G0X4	KCD21_HUMAN	potassium channel tetramerization domain containing 21	145						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|endometrium(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(2)	11	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.46e-24)			AGATGTTGGCGTTGAAGACCT	0.552													9	124					0	0	1	0	0	A	77885166	G	A	77885166	2	1	480	1	0	0	0	0	0	0	0	1	8153	1136	40	1		1	KCTD21	11	77885166	Silent	SNP	G	TCGA-TQ-A7RJ-01A-11D-A33T-08	956854	77885166	57121350	40	37037											
HEPHL1	341208	broad.mit.edu	37	11	93754555	93754555	+	Silent	SNP	T	T	A			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr11:93754555T>A	ENST00000315765.9	+	1	29	c.21T>A	c.(19-21)gcT>gcA	p.A7A		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	7					copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				AGCAGCCAGCTGGCTGCATCT	0.537													8	211					0	0	1	0	0	A	93754555	T	A	93754555	2	1	480	1	0	0	0	0	0	0	0	1	7096	1567	55	5		5	HEPHL1	11	93754555	Silent	SNP	T	TCGA-TQ-A7RJ-01A-11D-A33T-08	15869389	93754555	41251961	41	37038											
BIRC3	330	broad.mit.edu	37	11	102206866	102206866	+	Silent	SNP	G	G	A			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr11:102206866G>A	ENST00000263464.3	+	7	4244	c.1494G>A	c.(1492-1494)acG>acA	p.T498T	BIRC3_ENST00000532808.1_Silent_p.T498T	NM_001165.4	NP_001156.1	Q13489	BIRC3_HUMAN	baculoviral IAP repeat containing 3	498	CARD.				anti-apoptosis|apoptosis|cell surface receptor linked signaling pathway	cytoplasm|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|ovary(3)|skin(1)	21	all_cancers(8;0.00044)|all_epithelial(12;0.00348)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0093)	Lung(13;0.109)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0146)		TGATTGATACGATTTTAGTAA	0.348			T	MALT1	MALT								18	307					0	0	1	0	0	A	102206866	G	A	102206866	2	1	480	1	0	0	0	0	0	0	0	1	1435	1045	37	1		1	BIRC3	11	102206866	Silent	SNP	G	TCGA-TQ-A7RJ-01A-11D-A33T-08	8452311	102206866	32799650	42	37039											
FLI1	2313	broad.mit.edu	37	11	128642720	128642720	+	Missense_Mutation	SNP	G	G	C			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr11:128642720G>C	ENST00000527786.2	+	4	918	c.429G>C	c.(427-429)gaG>gaC	p.E143D	FLI1_ENST00000534087.2_Missense_Mutation_p.E110D|FLI1_ENST00000281428.8_Missense_Mutation_p.E77D|FLI1_ENST00000344954.6_Missense_Mutation_p.E110D|FLI1_ENST00000525560.1_Intron	NM_001271010.1|NM_002017.4	NP_001257939.1|NP_002008.2	Q01543	FLI1_HUMAN	Fli-1 proto-oncogene, ETS transcription factor		PNT.				hemostasis|organ morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		EWSR1/FLI1(2569)	NS(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(2)	31	all_hematologic(175;0.0641)	Lung NSC(97;0.00588)|all_lung(97;0.00764)|Breast(109;0.0115)|Medulloblastoma(222;0.0523)|all_neural(223;0.0862)|all_hematologic(192;0.182)		OV - Ovarian serous cystadenocarcinoma(99;0.01)|LUSC - Lung squamous cell carcinoma(976;0.0324)|Lung(977;0.0327)		AATGGCTGGAGTGGGCCATAA	0.512			T	EWSR1	Ewing sarcoma								15	350					0	0	1	0	0	C	128642720	G	C	128642720	3	2	480	1	0	0	0	0	1	0	0	0	5957	1020	36	4	443	4	FLI1	11	128642720	Missense_Mutation	SNP	G	TCGA-TQ-A7RJ-01A-11D-A33T-08	26435854	128642720	6363796	43	37040											
ZMYM2	7750	broad.mit.edu	37	13	20641084	20641084	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr13:20641084G>A	ENST00000382869.3	+	20	3477	c.3226G>A	c.(3226-3228)Gta>Ata	p.V1076I	ZMYM2_ENST00000494061.2_3'UTR|ZMYM2_ENST00000382871.2_Missense_Mutation_p.V1076I|ZMYM2_ENST00000382874.2_Missense_Mutation_p.V1076I	NM_001190965.1|NM_003453.3|NM_197968.2	NP_001177894.1|NP_003444.1|NP_932072.1	Q9UBW7	ZMYM2_HUMAN	zinc finger, MYM-type 2	1076					regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	ubiquitin conjugating enzyme binding|zinc ion binding			large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10		all_cancers(29;8.65e-21)|all_epithelial(30;1.04e-18)|all_lung(29;6.75e-18)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;0.000148)|Epithelial(112;0.000249)|OV - Ovarian serous cystadenocarcinoma(117;0.00816)|Lung(94;0.0173)|LUSC - Lung squamous cell carcinoma(192;0.0856)		TACGTATGGCGTAAATGCATG	0.373													21	38					0	0	1	0	0	A	20641084	G	A	20641084	3	1	480	1	0	0	0	0	1	0	0	0	17758	1145	40	1	3296	1	ZMYM2	13	20641084	Missense_Mutation	SNP	G	TCGA-TQ-A7RJ-01A-11D-A33T-08		20641084	94528794	44	37041											
IPO5	3843	broad.mit.edu	37	13	98658520	98658520	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr13:98658520C>T	ENST00000261574.5	+	17	1868	c.1688C>T	c.(1687-1689)gCg>gTg	p.A563V	IPO5_ENST00000490680.1_Missense_Mutation_p.A545V|IPO5_ENST00000539640.1_Missense_Mutation_p.A420V|IPO5_ENST00000493492.2_3'UTR	NM_002271.4	NP_002262.3	O00410	IPO5_HUMAN	importin 5	545					interspecies interaction between organisms|NLS-bearing substrate import into nucleus|ribosomal protein import into nucleus	cytoplasm|nuclear pore|nucleolus	GTPase inhibitor activity|protein transporter activity|Ran GTPase binding			breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	27						GTTGAGAATGCGGTTCAAAAA	0.378													4	207					0	0	1	0	0	T	98658520	C	T	98658520	3	4	480	1	0	0	0	0	1	0	0	0	7840	768	27	1	1746	1	IPO5	13	98658520	Missense_Mutation	SNP	C	TCGA-TQ-A7RJ-01A-11D-A33T-08	78017436	98658520	16511358	45	37042											
PARP2	10038	broad.mit.edu	37	14	20825295	20825295	+	Missense_Mutation	SNP	T	T	C			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr14:20825295T>C	ENST00000527915.1	+	14	1459	c.1454T>C	c.(1453-1455)cTg>cCg	p.L485P	PARP2_ENST00000429687.3_Missense_Mutation_p.L472P|PARP2_ENST00000250416.5_Missense_Mutation_p.L485P			Q9UGN5	PARP2_HUMAN	poly (ADP-ribose) polymerase 2	485	PARP catalytic.				protein ADP-ribosylation	nucleolus|nucleoplasm	DNA binding|NAD+ ADP-ribosyltransferase activity			central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)	15	all_cancers(95;0.00092)	all_lung(585;0.235)	Epithelial(56;5.34e-07)|all cancers(55;3.7e-06)	GBM - Glioblastoma multiforme(265;0.00888)|READ - Rectum adenocarcinoma(17;0.0649)		ACAGGACTGCTGCTCTTATCA	0.403								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA					5	120					0	0	1	0	0	C	20825295	T	C	20825295	3	2	480	1	0	0	0	0	1	0	0	0	11508	1580	55	3	1508	3	PARP2	14	20825295	Missense_Mutation	SNP	T	TCGA-TQ-A7RJ-01A-11D-A33T-08		20825295	86524245	46	37043											
ERO1L	30001	broad.mit.edu	37	14	53113132	53113132	+	Silent	SNP	A	A	G			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr14:53113132A>G	ENST00000395686.3	-	14	1396	c.1173T>C	c.(1171-1173)tgT>tgC	p.C391C		NM_014584.1	NP_055399.1	Q96HE7	ERO1A_HUMAN	ERO1-like (S. cerevisiae)	391					chaperone mediated protein folding requiring cofactor|electron transport chain|protein thiol-disulfide exchange|response to temperature stimulus|transport	endoplasmic reticulum lumen|endoplasmic reticulum membrane|microsome	disulfide oxidoreductase activity|flavin adenine dinucleotide binding|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor		ERO1L/FERMT2(2)	breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	12	Breast(41;0.226)					AACAACCAACACAATCCATAA	0.294													17	166					0	0	1	0	0	G	53113132	A	G	53113132	2	3	480	1	0	0	0	0	0	0	0	1	5267	157	6	3		3	ERO1L	14	53113132	Silent	SNP	A	TCGA-TQ-A7RJ-01A-11D-A33T-08	32287837	53113132	54236408	47	37044											
RCOR1	23186	broad.mit.edu	37	14	103174893	103174893	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr14:103174893G>A	ENST00000262241.6	+	6	978	c.752G>A	c.(751-753)cGg>cAg	p.R251Q	RCOR1_ENST00000570597.1_Missense_Mutation_p.R248Q	NM_015156.3	NP_055971.2	Q9UKL0	RCOR1_HUMAN	REST corepressor 1	248	Interaction with HDAC1.				blood coagulation|histone H4 deacetylation|interspecies interaction between organisms	transcriptional repressor complex	protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription regulatory region DNA binding			NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	12						CGCCATGCCCGGAAACAAAAA	0.463													5	474					0	0	1	0	0	A	103174893	G	A	103174893	3	1	480	1	0	0	0	0	1	0	0	0	13234	1116	39	1	765	1	RCOR1	14	103174893	Missense_Mutation	SNP	G	TCGA-TQ-A7RJ-01A-11D-A33T-08	50061761	103174893	4174647	48	37045											
FMN1	342184	broad.mit.edu	37	15	33149252	33149252	+	Missense_Mutation	SNP	G	G	C			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr15:33149252G>C	ENST00000334528.9	-	13	3222	c.3223C>G	c.(3223-3225)Cct>Gct	p.P1075A	FMN1_ENST00000561249.1_Missense_Mutation_p.P1200A|FMN1_ENST00000559047.1_Missense_Mutation_p.P1298A	NM_001103184.2	NP_001096654.1	Q68DA7	FMN1_HUMAN	formin 1	1298	FH2.				actin cytoskeleton organization	actin cytoskeleton|adherens junction|cytoplasm|nucleus	actin binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)		TCCTTGAAAGGCTGGAGATAC	0.443													61	97					0	0	1	0	0	C	33149252	G	C	33149252	3	2	480	1	0	0	0	0	1	0	0	0	5982	1203	42	5	387	5	FMN1	15	33149252	Missense_Mutation	SNP	G	TCGA-TQ-A7RJ-01A-11D-A33T-08		33149252	69382140	49	37046											
DUOX1	53905	broad.mit.edu	37	15	45445612	45445612	+	Nonsense_Mutation	SNP	C	C	A			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr15:45445612C>A	ENST00000321429.4	+	27	3866	c.3459C>A	c.(3457-3459)taC>taA	p.Y1153*	DUOX1_ENST00000561166.1_Nonsense_Mutation_p.Y799*|DUOX1_ENST00000389037.3_Nonsense_Mutation_p.Y1153*|DUOX1_ENST00000559221.1_3'UTR|CTD-2651B20.1_ENST00000558039.1_lincRNA	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	1153	Ferric oxidoreductase.|Interaction with TXNDC11 (By similarity).				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		TGAATGTGTACCTGTTCTCCA	0.552													5	291					1.024e-07	1.07733e-07	1	1	0	A	45445612	C	A	45445612	4	1	480	1	0	0	0	0	0	1	0	0	4826	518	18	5	3557	5	DUOX1	15	45445612	Nonsense_Mutation	SNP	C	TCGA-TQ-A7RJ-01A-11D-A33T-08	12296360	45445612	57085780	50	37047											
POLR2A	5430	broad.mit.edu	37	17	7415831	7415831	+	Missense_Mutation	SNP	A	A	T			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr17:7415831A>T	ENST00000322644.6	+	27	4927	c.4528A>T	c.(4528-4530)Atg>Ttg	p.M1510L		NM_000937.4	NP_000928	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	1510					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				ACCCAGTCCCATGGGTGGAAT	0.557													67	91					0	0	1	0	0	T	7415831	A	T	7415831	3	4	480	1	0	0	0	0	1	0	0	0	12262	217	8	4	4634	4	POLR2A	17	7415831	Missense_Mutation	SNP	A	TCGA-TQ-A7RJ-01A-11D-A33T-08		7415831	73779379	51	37048											
TP53	7157	broad.mit.edu	37	17	7577022	7577022	+	Nonsense_Mutation	SNP	G	G	A	rs121913344		TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr17:7577022G>A	ENST00000420246.2	-	8	1048	c.916C>T	c.(916-918)Cga>Tga	p.R306*	TP53_ENST00000359597.4_Nonsense_Mutation_p.R306*|TP53_ENST00000455263.2_Nonsense_Mutation_p.R306*|TP53_ENST00000269305.4_Nonsense_Mutation_p.R306*|TP53_ENST00000445888.2_Nonsense_Mutation_p.R306*|TP53_ENST00000413465.2_Intron	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	306	Interaction with CARM1.|Interaction with HIPK1 (By similarity).		R -> P (in LFS; germline mutation and in a sporadic cancer; somatic mutation).|R -> Q (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.R306*(133)|p.0?(8)|p.?(3)|p.R306fs*39(2)|p.K305fs*1(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)		TGCTTACCTCGCTTAGTGCTC	0.562	R306*(HCC1937_BREAST)|R306*(JURLMK1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R306*(MFE296_ENDOMETRIUM)|R306*(MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R306*(RCM1_LARGE_INTESTINE)	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)			58	103					0	0	1	0	0	A	7577022	G	A	7577022	4	1	480	1	0	0	0	0	0	1	0	0	16442	1095	38	1	370	1	TP53	17	7577022	Nonsense_Mutation	SNP	G	TCGA-TQ-A7RJ-01A-11D-A33T-08	161191	7577022	73618188	52	37049											
TP53	7157	broad.mit.edu	37	17	7579328	7579328	+	Frame_Shift_Del	DEL	T	T	-			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr17:7579328delT	ENST00000420246.2	-	4	491	c.359delA	c.(358-360)aagfs	p.K120fs	TP53_ENST00000269305.4_Frame_Shift_Del_p.K120fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.K120fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.K120fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.K120fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.K120fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	120	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.	Interaction with DNA.	K -> E (in sporadic cancers; somatic mutation).|K -> M (in sporadic cancers; somatic mutation).|K -> Q (in a sporadic cancer; somatic mutation).|K -> R (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.0?(8)|p.K120M(5)|p.G59fs*23(3)|p.K120R(2)|p.V73fs*9(1)|p.K120fs*3(1)|p.G105_T125del21(1)|p.G112_V122delGFLHSGTAKSV(1)|p.T118fs*27(1)|p.H115fs*27(1)|p.Y107fs*44(1)|p.P13fs*18(1)|p.S33fs*23(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)		AGTCACAGACTTGGCTGTCCC	0.567		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)			79	92	---	---	---	---						-	7579328	T	-	7579328	7	5	480	1	0	1	0	1	0	0	0	0	16442	1609	56	0	943	0	TP53	17	7579328	Frame_Shift_Del	DEL	T	TCGA-TQ-A7RJ-01A-11D-A33T-08	2306	7579328	73615882	53	37050											
CNTD1	124817	broad.mit.edu	37	17	40957798	40957800	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr17:40957798_40957800delAAG	ENST00000588408.1	+	4	752_754	c.476_478delAAG	c.(475-480)aaagaa>aaa	p.E161del	CNTD1_ENST00000315066.5_3'UTR|CNTD1_ENST00000588527.1_In_Frame_Del_p.E78del	NM_173478.2	NP_775749.2	Q8N815	CNTD1_HUMAN	cyclin N-terminal domain containing 1	161	Cyclin N-terminal.									central_nervous_system(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	10		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		CTACACACTAAAGAAGAACTGCT	0.419													9	116	---	---	---	---						-	40957800	AAG	-	40957798	7	5	480	1	0	1	0	1	0	0	0	0	3658	14	1	0	490	0	CNTD1	17	40957798	In_Frame_Del	DEL	AAG	TCGA-TQ-A7RJ-01A-11D-A33T-08	33378470	40957798	40237412	54	37051											
BPTF	2186	broad.mit.edu	37	17	65899908	65899908	+	Silent	SNP	A	A	G			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr17:65899908A>G	ENST00000321892.4	+	10	2986	c.2925A>G	c.(2923-2925)ttA>ttG	p.L975L	BPTF_ENST00000306378.6_Silent_p.L849L|BPTF_ENST00000335221.5_Silent_p.L975L|BPTF_ENST00000424123.3_Silent_p.L836L			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	975					brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			TTCTTAGGTTACACCGGATGA	0.333													7	108					0	0	1	0	0	G	65899908	A	G	65899908	2	3	480	1	0	0	0	0	0	0	0	1	1497	388	14	3		3	BPTF	17	65899908	Silent	SNP	A	TCGA-TQ-A7RJ-01A-11D-A33T-08	24942110	65899908	15295302	55	37052											
BAHCC1	57597	broad.mit.edu	37	17	79410429	79410429	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr17:79410429G>A	ENST00000307745.7	+	9	2054	c.2054G>A	c.(2053-2055)cGc>cAc	p.R685H																								GACTGTGCCCGCAGCAGGGAG	0.682													3	26					0	0	1	0	0	A	79410429	G	A	79410429	3	1	480	1	0	0	0	0	1	0	0	0	1294	1087	38	1	1903	1	BAHCC1	17	79410429	Missense_Mutation	SNP	G	TCGA-TQ-A7RJ-01A-11D-A33T-08	13510521	79410429	1784781	56	37053											
PTPRM	5797	broad.mit.edu	37	18	8370965	8370965	+	Silent	SNP	A	A	G			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr18:8370965A>G	ENST00000332175.8	+	22	4130	c.3093A>G	c.(3091-3093)ctA>ctG	p.L1031L	PTPRM_ENST00000400060.4_Silent_p.L1045L|PTPRM_ENST00000444013.1_Silent_p.L818L|PTPRM_ENST00000580170.1_Silent_p.L1044L|PTPRM_ENST00000400053.4_Silent_p.L969L	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	1031	Tyrosine-protein phosphatase 1.				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				AAACAGAACTACTGGCAGAAT	0.343													7	141					0	0	1	0	0	G	8370965	A	G	8370965	2	3	480	1	0	0	0	0	0	0	0	1	12858	378	14	3		3	PTPRM	18	8370965	Silent	SNP	A	TCGA-TQ-A7RJ-01A-11D-A33T-08		8370965	69706283	57	37054											
DSC1	1823	broad.mit.edu	37	18	28728468	28728468	+	Silent	SNP	G	G	A	rs138689452		TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr18:28728468G>A	ENST00000257197.3	-	6	1026	c.765C>T	c.(763-765)tgC>tgT	p.C255C	RP11-408H20.2_ENST00000581836.1_RNA|DSC1_ENST00000257198.5_Silent_p.C255C	NM_004948.3	NP_004939.1	Q08554	DSC1_HUMAN	desmocollin 1	255	Cadherin 2.				homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			TACCGGATCGGCAATTTTCAG	0.328													4	237					0	0	1	0	0	A	28728468	G	A	28728468	2	1	480	1	0	0	0	0	0	0	0	1	4791	1195	42	2		2	DSC1	18	28728468	Silent	SNP	G	TCGA-TQ-A7RJ-01A-11D-A33T-08	20357503	28728468	49348780	58	37055											
GTF2F1	2962	broad.mit.edu	37	19	6391946	6391946	+	Silent	SNP	T	T	C			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr19:6391946T>C	ENST00000394456.5	-	3	563	c.99A>G	c.(97-99)gcA>gcG	p.A33A	GTF2F1_ENST00000429701.2_Silent_p.A5A	NM_002096.2	NP_002087.2	P35269	T2FA_HUMAN	general transcription factor IIF, polypeptide 1, 74kDa	33					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|response to virus|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cell junction|transcription factor TFIIF complex	catalytic activity|DNA binding|phosphatase activator activity|transcription coactivator activity|transcription factor binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(4)	16						CTTTGTCGGCTGCATTAAAAG	0.443													5	15					0	0	1	0	0	C	6391946	T	C	6391946	2	2	480	1	0	0	0	0	0	0	0	1	6899	1567	55	3		3	GTF2F1	19	6391946	Silent	SNP	T	TCGA-TQ-A7RJ-01A-11D-A33T-08		6391946	52737037	59	37056											
MUC16	94025	broad.mit.edu	37	19	9075042	9075042	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr19:9075042G>A	ENST00000397910.4	-	3	12607	c.12404C>T	c.(12403-12405)aCc>aTc	p.T4135I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4137	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AAAGAGAGTGGTCTTCTCTGA	0.502													54	100					0	0	1	0	0	A	9075042	G	A	9075042	3	1	480	1	0	0	0	0	1	0	0	0	10021	1261	44	2	31447	2	MUC16	19	9075042	Missense_Mutation	SNP	G	TCGA-TQ-A7RJ-01A-11D-A33T-08	2683096	9075042	50053941	60	37057											
NWD1	284434	broad.mit.edu	37	19	16902375	16902375	+	Missense_Mutation	SNP	T	T	C			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr19:16902375T>C	ENST00000524140.2	+	14	3573	c.3155T>C	c.(3154-3156)gTc>gCc	p.V1052A	NWD1_ENST00000339803.6_Missense_Mutation_p.V917A|NWD1_ENST00000379808.3_Missense_Mutation_p.V1052A|NWD1_ENST00000552788.1_Missense_Mutation_p.V1052A|NWD1_ENST00000549814.1_Missense_Mutation_p.V1052A|NWD1_ENST00000523826.1_Missense_Mutation_p.V846A	NM_001007525.3	NP_001007526.3	Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	1052							ATP binding			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						ACCTGTGCCGTCTCAGTCCAG	0.478													5	188					0	0	1	0	0	C	16902375	T	C	16902375	3	2	480	1	0	0	0	0	1	0	0	0	10829	1667	58	3	2788	3	NWD1	19	16902375	Missense_Mutation	SNP	T	TCGA-TQ-A7RJ-01A-11D-A33T-08	7827333	16902375	42226608	61	37058											
RASGRP4	115727	broad.mit.edu	37	19	38912756	38912756	+	Nonsense_Mutation	SNP	G	G	A			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr19:38912756G>A	ENST00000454404.2	-	2	274	c.61C>T	c.(61-63)Cga>Tga	p.R21*	RASGRP4_ENST00000586305.1_Nonsense_Mutation_p.R21*|RASGRP4_ENST00000587738.1_Nonsense_Mutation_p.R21*|RASGRP4_ENST00000587753.1_Nonsense_Mutation_p.R21*|RASGRP4_ENST00000426920.2_Nonsense_Mutation_p.R21*|RASGRP4_ENST00000433821.2_Nonsense_Mutation_p.R21*|RASGRP4_ENST00000293062.9_Nonsense_Mutation_p.R21*	NM_001146205.1|NM_170604.2	NP_001139677.1|NP_733749.1	Q8TDF6	GRP4_HUMAN	RAS guanyl releasing protein 4	21					activation of phospholipase C activity|cell growth|cell proliferation|myeloid cell differentiation|positive regulation of Ras protein signal transduction|regulation of G-protein coupled receptor protein signaling pathway|response to extracellular stimulus|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|membrane fraction|plasma membrane|soluble fraction	diacylglycerol binding|GTP-dependent protein binding|metal ion binding|Ras guanyl-nucleotide exchange factor activity			cervix(1)|kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|prostate(3)|skin(1)	23	all_cancers(60;4.21e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			GGCCGGCCTCGCCCTCCTATT	0.612													26	53					0	0	1	0	0	A	38912756	G	A	38912756	4	1	480	1	0	0	0	0	0	1	0	0	13129	1095	38	1	2024	1	RASGRP4	19	38912756	Nonsense_Mutation	SNP	G	TCGA-TQ-A7RJ-01A-11D-A33T-08	22010381	38912756	20216227	62	37059											
FCGBP	8857	broad.mit.edu	37	19	40366460	40366460	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr19:40366460C>T	ENST00000221347.6	-	30	13781	c.13774G>A	c.(13774-13776)Gat>Aat	p.D4592N		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	4592	VWFD 11.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CTGTCCCCATCGAAAGCCAGC	0.657													5	190					0	0	1	0	0	T	40366460	C	T	40366460	3	4	480	1	0	0	0	0	1	0	0	0	5811	884	31	1	2471	1	FCGBP	19	40366460	Missense_Mutation	SNP	C	TCGA-TQ-A7RJ-01A-11D-A33T-08	1453704	40366460	18762523	63	37060											
C5AR1	728	broad.mit.edu	37	19	47823729	47823729	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr19:47823729G>A	ENST00000355085.3	+	2	717	c.695G>A	c.(694-696)cGc>cAc	p.R232H		NM_001736.3	NP_001727.1	P21730	C5AR_HUMAN	complement component 5a receptor 1	232					activation of MAPK activity|activation of phospholipase C activity|cellular defense response|elevation of cytosolic calcium ion concentration|immune response|sensory perception of chemical stimulus	integral to plasma membrane	C5a anaphylatoxin receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(11)|ovary(2)|prostate(1)|skin(1)	20		all_cancers(25;2e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;0.000267)|OV - Ovarian serous cystadenocarcinoma(262;0.000618)|Epithelial(262;0.0142)|GBM - Glioblastoma multiforme(486;0.0242)		ACGTGGAGCCGCAGGGCCACG	0.597													4	198					0	0	1	0	0	A	47823729	G	A	47823729	3	1	480	1	0	0	0	0	1	0	0	0	2296	1087	38	1	700	1	C5AR1	19	47823729	Missense_Mutation	SNP	G	TCGA-TQ-A7RJ-01A-11D-A33T-08	7457269	47823729	11305254	64	37061											
SLC24A3	57419	broad.mit.edu	37	20	19674050	19674050	+	Missense_Mutation	SNP	C	C	G			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr20:19674050C>G	ENST00000328041.6	+	13	1669	c.1472C>G	c.(1471-1473)tCc>tGc	p.S491C	RP4-718D20.3_ENST00000609846.1_RNA|RP4-718D20.3_ENST00000593770.1_RNA|RP4-718D20.3_ENST00000600889.1_RNA|RP4-718D20.3_ENST00000608476.1_RNA|RP4-718D20.3_ENST00000435992.2_RNA|RP4-718D20.3_ENST00000609610.1_RNA|RP4-718D20.3_ENST00000598694.1_RNA	NM_020689.3	NP_065740.2	Q9HC58	NCKX3_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 3	491						integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						GCAGCCTTCTCCTACATGATG	0.493													6	112					0	0	1	0	0	G	19674050	C	G	19674050	3	3	480	1	0	0	0	0	1	0	0	0	14522	855	30	5	1522	5	SLC24A3	20	19674050	Missense_Mutation	SNP	C	TCGA-TQ-A7RJ-01A-11D-A33T-08		19674050	43351470	65	37062											
TPX2	22974	broad.mit.edu	37	20	30363725	30363725	+	Nonsense_Mutation	SNP	C	C	T			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr20:30363725C>T	ENST00000340513.4	+	8	1192	c.664C>T	c.(664-666)Cag>Tag	p.Q222*	TPX2_ENST00000300403.6_Nonsense_Mutation_p.Q222*			Q9ULW0	TPX2_HUMAN	TPX2, microtubule-associated	222					activation of protein kinase activity|apoptosis|cell division|cell proliferation|mitosis|regulation of mitotic spindle organization	cytoplasm|microtubule|nucleus|spindle pole	ATP binding|GTP binding|protein kinase binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28			Epithelial(4;0.000771)|Colorectal(19;0.00306)|all cancers(5;0.004)|COAD - Colon adenocarcinoma(19;0.0347)|OV - Ovarian serous cystadenocarcinoma(3;0.0656)			TATGAAAATGCAGCAAGAGGT	0.433													5	146					0	0	1	0	0	T	30363725	C	T	30363725	4	4	480	1	0	0	0	0	0	1	0	0	16493	711	25	2	686	2	TPX2	20	30363725	Nonsense_Mutation	SNP	C	TCGA-TQ-A7RJ-01A-11D-A33T-08	10689675	30363725	32661795	66	37063											
CDH26	60437	broad.mit.edu	37	20	58564210	58564210	+	Silent	SNP	C	C	T			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr20:58564210C>T	ENST00000348616.4	+	9	1575	c.1275C>T	c.(1273-1275)agC>agT	p.S425S	CDH26_ENST00000244047.5_Silent_p.S425S	NM_177980.2	NP_817089.1	Q8IXH8	CAD26_HUMAN	cadherin 26	425	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44	all_lung(29;0.00963)		BRCA - Breast invasive adenocarcinoma(7;5.58e-09)			ATCCAGACAGCCAGATAAGGT	0.542													5	510					0	0	1	0	0	T	58564210	C	T	58564210	2	4	480	1	0	0	0	0	0	0	0	1	3132	738	26	2		2	CDH26	20	58564210	Silent	SNP	C	TCGA-TQ-A7RJ-01A-11D-A33T-08	28200485	58564210	4461310	67	37064											
C22orf23	84645	broad.mit.edu	37	22	38343398	38343398	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr22:38343398G>A	ENST00000249079.2	-	4	495	c.239C>T	c.(238-240)tCg>tTg	p.S80L	C22orf23_ENST00000403305.1_Missense_Mutation_p.S80L|C22orf23_ENST00000403026.1_Missense_Mutation_p.S80L			Q9BZE7	EVG1_HUMAN	chromosome 22 open reading frame 23	80										endometrium(3)|kidney(2)|large_intestine(7)	12	Melanoma(58;0.045)					GTAGATGGGCGAGGCTATTTG	0.607													4	148					0	0	1	0	0	A	38343398	G	A	38343398	3	1	480	1	0	0	0	0	1	0	0	0	2151	1059	37	1	430	1	C22orf23	22	38343398	Missense_Mutation	SNP	G	TCGA-TQ-A7RJ-01A-11D-A33T-08		38343398	12961168	68	37065											
KLHL34	257240	broad.mit.edu	37	X	21675338	21675338	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chrX:21675338C>T	ENST00000379499.2	-	1	1110	c.569G>A	c.(568-570)cGg>cAg	p.R190Q		NM_153270.1	NP_695002.1	Q8N239	KLH34_HUMAN	kelch-like family member 34	190	BACK.									cervix(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	26						CTCGGGCACCCGCGCCACGTC	0.697													11	9					0	0	1	0	0	T	21675338	C	T	21675338	3	4	480	1	0	0	0	0	1	0	0	0	8430	652	23	1	1369	1	KLHL34	23	21675338	Missense_Mutation	SNP	C	TCGA-TQ-A7RJ-01A-11D-A33T-08		21675338	133595222	69	37066											
DGKK	139189	broad.mit.edu	37	X	50136278	50136278	+	RNA	SNP	T	T	C			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chrX:50136278T>C	ENST00000376025.2	-	0	1526							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					GCAAGGGACATGAACAGGCTG	0.428													27	27					0	0	1	0	0	C	50136278	T	C	50136278	1	2	480	0	1	0	0	0	0	0	0	0	4500	1451	51	3		3	DGKK	23	50136278	RNA	SNP	T	TCGA-TQ-A7RJ-01A-11D-A33T-08	28460940	50136278	105134282	70	37067											
APEX2	27301	broad.mit.edu	37	X	55033216	55033216	+	Missense_Mutation	SNP	C	C	G			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chrX:55033216C>G	ENST00000374987.3	+	6	971	c.905C>G	c.(904-906)tCt>tGt	p.S302C		NM_014481.2	NP_055296.2	Q9UBZ4	APEX2_HUMAN	APEX nuclease (apurinic/apyrimidinic endonuclease) 2	302					cell cycle|DNA recombination|DNA repair	nucleus	DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|endonuclease activity|exonuclease activity|zinc ion binding			breast(1)|endometrium(8)|large_intestine(4)|lung(6)|prostate(1)|urinary_tract(1)	21						GTGATGGGCTCTGACCACTGC	0.587								Other BER factors					3	79					0	0	1	0	0	G	55033216	C	G	55033216	3	3	480	1	0	0	0	0	1	0	0	0	766	913	32	4	927	4	APEX2	23	55033216	Missense_Mutation	SNP	C	TCGA-TQ-A7RJ-01A-11D-A33T-08	4896938	55033216	100237344	71	37068											
NLGN3	54413	broad.mit.edu	37	X	70367807	70367807	+	Missense_Mutation	SNP	C	C	A			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chrX:70367807C>A	ENST00000374051.3	+	2	530	c.208C>A	c.(208-210)Ctg>Atg	p.L70M	NLGN3_ENST00000536169.1_Missense_Mutation_p.L70M|NLGN3_ENST00000358741.3_Missense_Mutation_p.L70M	NM_018977.3	NP_061850.2	Q9NZ94	NLGN3_HUMAN	neuroligin 3	70					neuron cell-cell adhesion|positive regulation of synaptogenesis|receptor-mediated endocytosis|social behavior|synapse assembly	cell surface|endocytic vesicle|integral to plasma membrane|synapse	neurexin binding|receptor activity			biliary_tract(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	37	Renal(35;0.156)					GGACCAATACCTGGGGGTGCC	0.632													4	63					0.00024832	0.000255922	1	1	0	A	70367807	C	A	70367807	3	1	480	1	0	0	0	0	1	0	0	0	10510	680	24	4	210	4	NLGN3	23	70367807	Missense_Mutation	SNP	C	TCGA-TQ-A7RJ-01A-11D-A33T-08	15334591	70367807	84902753	72	37069											
ATRX	546	broad.mit.edu	37	X	76912144	76912144	+	Splice_Site	SNP	C	C	G			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chrX:76912144C>G	ENST00000373344.5	-	13	4335		c.e13-1		ATRX_ENST00000480283.1_Splice_Site|ATRX_ENST00000395603.3_Splice_Site	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked						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)	TCACTGCTCACTTGaatttta	0.318			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						34	87					0	0	1	0	0	G	76912144	C	G	76912144	5	3	480	1	0	0	0	0	0	0	1	0	1206	579	20	4	3450	4	ATRX	23	76912144	Splice_Site	SNP	C	TCGA-TQ-A7RJ-01A-11D-A33T-08	6544337	76912144	78358416	73	37070											
ATRX	546	broad.mit.edu	37	X	76938583	76938583	+	Nonsense_Mutation	SNP	G	G	C			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chrX:76938583G>C	ENST00000373344.5	-	9	2379	c.2165C>G	c.(2164-2166)tCa>tGa	p.S722*	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Nonsense_Mutation_p.S684*	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	722					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)	CACAGTCTCTGATTGCTTAGA	0.358			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						31	788					0	0	1	0	0	C	76938583	G	C	76938583	4	2	480	1	0	0	0	0	0	1	0	0	1206	1294	45	5	5421	5	ATRX	23	76938583	Nonsense_Mutation	SNP	G	TCGA-TQ-A7RJ-01A-11D-A33T-08	26439	76938583	78331977	74	37071											
XIAP	331	broad.mit.edu	37	X	123019612	123019612	+	Missense_Mutation	SNP	G	G	T			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chrX:123019612G>T	ENST00000371199.3	+	2	399	c.100G>T	c.(100-102)Gct>Tct	p.A34S	XIAP_ENST00000468691.1_Intron|XIAP_ENST00000355640.3_Missense_Mutation_p.A34S|XIAP_ENST00000434753.3_Missense_Mutation_p.A34S	NM_001167.3	NP_001158.2	P98170	XIAP_HUMAN	X-linked inhibitor of apoptosis	34					anti-apoptosis|apoptosis|induction of apoptosis by intracellular signals|response to DNA damage stimulus	cytosol	caspase inhibitor activity|ligase activity|protein binding|zinc ion binding			breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)	25						AAAAACTTTTGCTAATTTTCC	0.378									X-linked Lymphoproliferative syndrome				49	257					9.22156e-22	9.80397e-22	1	1	0	T	123019612	G	T	123019612	3	4	480	1	0	0	0	0	1	0	0	0	17488	1319	46	5	102	5	XIAP	23	123019612	Missense_Mutation	SNP	G	TCGA-TQ-A7RJ-01A-11D-A33T-08	46081029	123019612	32250948	75	37072											
DCAF12L2	340578	broad.mit.edu	37	X	125299762	125299762	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chrX:125299762C>T	ENST00000538699.1	-	2	226	c.146G>A	c.(145-147)cGc>cAc	p.R49H	DCAF12L2_ENST00000360028.2_Missense_Mutation_p.R49H	NM_001013628.2	NP_001013650.1	Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	49										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						CACCAGCCTGCGACGCGTCGC	0.726													7	85					0	0	1	0	0	T	125299762	C	T	125299762	3	4	480	1	0	0	0	0	1	0	0	0	4289	768	27	1	1249	1	DCAF12L2	23	125299762	Missense_Mutation	SNP	C	TCGA-TQ-A7RJ-01A-11D-A33T-08	2280150	125299762	29970798	76	37073											
ZNF280C	55609	broad.mit.edu	37	X	129370527	129370527	+	Missense_Mutation	SNP	C	C	A			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chrX:129370527C>A	ENST00000370978.4	-	7	733	c.580G>T	c.(580-582)Gat>Tat	p.D194Y		NM_017666.4	NP_060136.1	Q8ND82	Z280C_HUMAN	zinc finger protein 280C	194	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(4)|large_intestine(9)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	26						TGAGGAACATCTTCACTGGTC	0.363													4	159					0.150653	0.150653	1	1	0	A	129370527	C	A	129370527	3	1	480	1	0	0	0	0	1	0	0	0	17874	913	32	4	1685	4	ZNF280C	23	129370527	Missense_Mutation	SNP	C	TCGA-TQ-A7RJ-01A-11D-A33T-08	4070765	129370527	25900033	77	37074											
GPR101	83550	broad.mit.edu	37	X	136113495	136113495	+	Silent	SNP	C	C	G			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chrX:136113495C>G	ENST00000298110.1	-	1	338	c.339G>C	c.(337-339)ctG>ctC	p.L113L		NM_054021.1	NP_473362.1	Q96P66	GP101_HUMAN	G protein-coupled receptor 101	113						integral to membrane|plasma membrane	G-protein coupled receptor activity			autonomic_ganglia(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(18)|ovary(3)|skin(1)|urinary_tract(1)	42	Acute lymphoblastic leukemia(192;0.000127)					CGAAGGCGAACAGGTGGGTGA	0.612													7	59					0	0	1	0	0	G	136113495	C	G	136113495	2	3	480	1	0	0	0	0	0	0	0	1	6662	465	17	5		5	GPR101	23	136113495	Silent	SNP	C	TCGA-TQ-A7RJ-01A-11D-A33T-08	6742968	136113495	19157065	78	37075											
MAGEC1	9947	broad.mit.edu	37	X	140995747	140995747	+	Missense_Mutation	SNP	A	A	G	rs139093022	byFrequency	TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chrX:140995747A>G	ENST00000285879.4	+	4	2843	c.2557A>G	c.(2557-2559)Agt>Ggt	p.S853G	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	853							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TCCTCTCCAGAGTCCTGTGAT	0.512										HNSCC(15;0.026)			6	434					0	0	1	0	0	G	140995747	A	G	140995747	3	3	480	1	0	0	0	0	1	0	0	0	9230	304	11	3	2563	3	MAGEC1	23	140995747	Missense_Mutation	SNP	A	TCGA-TQ-A7RJ-01A-11D-A33T-08	4882252	140995747	14274813	79	37076											
EMD	2010	broad.mit.edu	37	X	153608070	153608070	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chrX:153608070G>A	ENST00000369842.4	+	2	391	c.103G>A	c.(103-105)Gag>Aag	p.E35K	EMD_ENST00000492448.1_3'UTR|EMD_ENST00000369835.3_Intron	NM_000117.2	NP_000108.1	P50402	EMD_HUMAN	emerin	35	LEM.				cellular response to growth factor stimulus|muscle contraction|muscle organ development|negative regulation of catenin import into nucleus|negative regulation of fibroblast proliferation|positive regulation of protein export from nucleus|regulation of canonical Wnt receptor signaling pathway	endoplasmic reticulum|integral to membrane|microtubule|nuclear inner membrane|nuclear outer membrane	actin binding|beta-tubulin binding			lung(5)	5	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TAGGCTTTACGAGAAGAAGAT	0.697													4	118					0	0	1	0	0	A	153608070	G	A	153608070	3	1	480	1	0	0	0	0	1	0	0	0	5115	1059	37	1	109	1	EMD	23	153608070	Missense_Mutation	SNP	G	TCGA-TQ-A7RJ-01A-11D-A33T-08	12612323	153608070	1662490	80	37077											
ARHGAP29	9411	broad.mit.edu	37	1	94651006	94651006	+	Silent	SNP	T	T	G			TCGA-TQ-A7RK-01A-11D-A33T-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee20c616-5ca0-4b81-81a0-fe1551e6f760	4a8c0837-95d6-428f-af78-778185c83361	g.chr1:94651006T>G	ENST00000260526.6	-	17	1994	c.1812A>C	c.(1810-1812)acA>acC	p.T604T	ARHGAP29_ENST00000482481.1_5'UTR	NM_004815.3	NP_004806.3	Q52LW3	RHG29_HUMAN	Rho GTPase activating protein 29	604					Rho protein signal transduction	cytosol	metal ion binding|Rho GTPase activator activity			NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		TTGACATCAATGTTTTCTTAA	0.348													36	92					0	0	1	0	0	G	94651006	T	G	94651006	2	3	481	1	0	0	0	0	0	0	0	1	875	1451	51	4		4	ARHGAP29	1	94651006	Silent	SNP	T	TCGA-TQ-A7RK-01A-11D-A33T-08		94651006	154599615	1	37078											
NBAS	51594	broad.mit.edu	37	2	15448386	15448386	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RK-01A-11D-A33T-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee20c616-5ca0-4b81-81a0-fe1551e6f760	4a8c0837-95d6-428f-af78-778185c83361	g.chr2:15448386G>A	ENST00000281513.5	-	40	4776	c.4751C>T	c.(4750-4752)gCc>gTc	p.A1584V	NBAS_ENST00000441750.1_Missense_Mutation_p.A1464V	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	1584										NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						GGCCAATCGGGCATAGATCTG	0.473													4	113					0	0	1	0	0	A	15448386	G	A	15448386	3	1	481	1	0	0	0	0	1	0	0	0	10234	1203	42	2	2416	2	NBAS	2	15448386	Missense_Mutation	SNP	G	TCGA-TQ-A7RK-01A-11D-A33T-08		15448386	227750987	2	37079											
C2orf16	84226	broad.mit.edu	37	2	27804618	27804618	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RK-01A-11D-A33T-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee20c616-5ca0-4b81-81a0-fe1551e6f760	4a8c0837-95d6-428f-af78-778185c83361	g.chr2:27804618C>T	ENST00000408964.2	+	1	5230	c.5179C>T	c.(5179-5181)Cgc>Tgc	p.R1727C		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	1727	27 X 8 AA approximative tandem repeat of P-S-E-R-S-H-H-S.|Arg-rich.									breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					GAGGAGCCATCGCAGTCCCTC	0.562													216	259					0	0	1	0	0	T	27804618	C	T	27804618	3	4	481	1	0	0	0	0	1	0	0	0	2171	884	31	1	5181	1	C2orf16	2	27804618	Missense_Mutation	SNP	C	TCGA-TQ-A7RK-01A-11D-A33T-08	12356232	27804618	215394755	3	37080											
TMEM131	23505	broad.mit.edu	37	2	98409857	98409857	+	Splice_Site	SNP	C	C	G			TCGA-TQ-A7RK-01A-11D-A33T-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee20c616-5ca0-4b81-81a0-fe1551e6f760	4a8c0837-95d6-428f-af78-778185c83361	g.chr2:98409857C>G	ENST00000186436.5	-	30	3774		c.e30+1			NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131							integral to membrane				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						TGTGAACATACTTTCCTTCAG	0.403													4	91					0	0	1	0	0	G	98409857	C	G	98409857	5	3	481	1	0	0	0	0	0	0	1	0	16104	579	20	4	2153	4	TMEM131	2	98409857	Splice_Site	SNP	C	TCGA-TQ-A7RK-01A-11D-A33T-08	70605239	98409857	144789516	4	37081											
TTN	7273	broad.mit.edu	37	2	179605461	179605461	+	Missense_Mutation	SNP	G	G	C			TCGA-TQ-A7RK-01A-11D-A33T-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee20c616-5ca0-4b81-81a0-fe1551e6f760	4a8c0837-95d6-428f-af78-778185c83361	g.chr2:179605461G>C	ENST00000589042.1	-	48	12723	c.12499C>G	c.(12499-12501)Cta>Gta	p.L4167V	TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.L3929V|TTN_ENST00000342992.6_Intron|TTN_ENST00000460472.2_Missense_Mutation_p.L3804V|TTN-AS1_ENST00000582847.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.L3996V|TTN_ENST00000591111.1_Missense_Mutation_p.L3850V	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	3850							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCAGGCATTAGAATACCTTCT	0.428													46	119					0	0	1	0	0	C	179605461	G	C	179605461	3	2	481	1	0	0	0	0	1	0	0	0	16797	933	33	4	92290	4	TTN	2	179605461	Missense_Mutation	SNP	G	TCGA-TQ-A7RK-01A-11D-A33T-08	81195604	179605461	63593912	5	37082											
ASNSD1	54529	broad.mit.edu	37	2	190531397	190531397	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RK-01A-11D-A33T-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee20c616-5ca0-4b81-81a0-fe1551e6f760	4a8c0837-95d6-428f-af78-778185c83361	g.chr2:190531397G>A	ENST00000260952.4	+	4	952	c.539G>A	c.(538-540)aGa>aAa	p.R180K	ASNSD1_ENST00000607062.1_Intron	NM_019048.2	NP_061921	Q9NWL6	ASND1_HUMAN	asparagine synthetase domain containing 1	180	Glutamine amidotransferase type-2.				asparagine biosynthetic process|glutamine metabolic process		asparagine synthase (glutamine-hydrolyzing) activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(3)	25			OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0449)|all cancers(119;0.118)			GGACTTTTCAGAATTGATCTT	0.363													5	231					0	0	1	0	0	A	190531397	G	A	190531397	3	1	481	1	0	0	0	0	1	0	0	0	1048	942	33	2	541	2	ASNSD1	2	190531397	Missense_Mutation	SNP	G	TCGA-TQ-A7RK-01A-11D-A33T-08	10925936	190531397	52667976	6	37083											
IDH1	3417	broad.mit.edu	37	2	209113113	209113113	+	Missense_Mutation	SNP	G	G	C	rs121913499		TCGA-TQ-A7RK-01A-11D-A33T-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee20c616-5ca0-4b81-81a0-fe1551e6f760	4a8c0837-95d6-428f-af78-778185c83361	g.chr2:209113113G>C	ENST00000415913.1	-	4	775	c.394C>G	c.(394-396)Cgt>Ggt	p.R132G	IDH1_ENST00000345146.2_Missense_Mutation_p.R132G|IDH1_ENST00000446179.1_Missense_Mutation_p.R132G	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		TAAGCATGACGACCTATGATG	0.398			Mis		gliobastoma								61	102					0	0	1	0	0	C	209113113	G	C	209113113	3	2	481	1	0	0	0	0	1	0	0	0	7538	1058	37	5	878	5	IDH1	2	209113113	Missense_Mutation	SNP	G	TCGA-TQ-A7RK-01A-11D-A33T-08	18581716	209113113	34086260	7	37084											
SUMF1	285362	broad.mit.edu	37	3	4452611	4452611	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RK-01A-11D-A33T-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee20c616-5ca0-4b81-81a0-fe1551e6f760	4a8c0837-95d6-428f-af78-778185c83361	g.chr3:4452611C>T	ENST00000272902.5	-	7	927	c.892G>A	c.(892-894)Gca>Aca	p.A298T	SUMF1_ENST00000405420.2_Missense_Mutation_p.A298T|SUMF1_ENST00000383843.5_Missense_Mutation_p.A273T|SUMF1_ENST00000458465.2_Missense_Mutation_p.A166T|SUMF1_ENST00000534863.1_Missense_Mutation_p.A298T	NM_182760.3	NP_877437.2	Q8NBK3	SUMF1_HUMAN	sulfatase modifying factor 1	298						endoplasmic reticulum lumen	metal ion binding|oxidoreductase activity			breast(1)|endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(3)	13		Melanoma(143;0.068)|Colorectal(144;0.233)		Epithelial(13;0.0147)|OV - Ovarian serous cystadenocarcinoma(96;0.0444)|all cancers(10;0.0549)		CATTCCCATGCGTTCCCCACT	0.423													10	268					0	0	1	0	0	T	4452611	C	T	4452611	3	4	481	1	0	0	0	0	1	0	0	0	15441	768	27	1	244	1	SUMF1	3	4452611	Missense_Mutation	SNP	C	TCGA-TQ-A7RK-01A-11D-A33T-08		4452611	193569819	8	37085											
RFTN1	23180	broad.mit.edu	37	3	16411682	16411685	+	Frame_Shift_Del	DEL	CTGT	CTGT	-			TCGA-TQ-A7RK-01A-11D-A33T-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee20c616-5ca0-4b81-81a0-fe1551e6f760	4a8c0837-95d6-428f-af78-778185c83361	g.chr3:16411682_16411685delCTGT	ENST00000334133.4	-	6	1200_1203	c.928_931delACAG	c.(928-933)acagtgfs	p.TV310fs	RFTN1_ENST00000432519.1_Frame_Shift_Del_p.TV274fs|RFTN1_ENST00000483671.1_5'UTR	NM_015150.1	NP_055965.1	Q14699	RFTN1_HUMAN	raftlin, lipid raft linker 1	310						plasma membrane				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	38						AAACCGCTCACTGTCTGGCCATTC	0.51													124	370	---	---	---	---						-	16411685	CTGT	-	16411682	7	5	481	1	0	1	0	1	0	0	0	0	13310	565	20	0	825	0	RFTN1	3	16411682	Frame_Shift_Del	DEL	CTGT	TCGA-TQ-A7RK-01A-11D-A33T-08	11959071	16411682	181610748	9	37086											
LEKR1	389170	broad.mit.edu	37	3	156745897	156745897	+	Silent	SNP	T	T	C			TCGA-TQ-A7RK-01A-11D-A33T-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee20c616-5ca0-4b81-81a0-fe1551e6f760	4a8c0837-95d6-428f-af78-778185c83361	g.chr3:156745897T>C	ENST00000470811.1	+	13	1797	c.462T>C	c.(460-462)tcT>tcC	p.S154S	LEKR1_ENST00000356539.4_Silent_p.S458S			D3DNK7	D3DNK7_HUMAN	leucine, glutamate and lysine rich 1	0										breast(1)|large_intestine(5)|lung(3)|ovary(1)|skin(1)	11			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			TACAGATATCTGACTTAATCA	0.343													39	58					0	0	1	0	0	C	156745897	T	C	156745897	2	2	481	1	0	0	0	0	0	0	0	1	8756	1567	55	3		3	LEKR1	3	156745897	Silent	SNP	T	TCGA-TQ-A7RK-01A-11D-A33T-08	140334215	156745897	41276533	10	37087											
C4orf19	55286	broad.mit.edu	37	4	37592609	37592609	+	Missense_Mutation	SNP	A	A	C			TCGA-TQ-A7RK-01A-11D-A33T-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee20c616-5ca0-4b81-81a0-fe1551e6f760	4a8c0837-95d6-428f-af78-778185c83361	g.chr4:37592609A>C	ENST00000284437.6	+	3	1110	c.932A>C	c.(931-933)gAt>gCt	p.D311A	RELL1_ENST00000314117.4_3'UTR|C4orf19_ENST00000508175.1_Intron|C4orf19_ENST00000381980.4_Missense_Mutation_p.D311A	NM_018302.2	NP_060772.2	Q8IY42	CD019_HUMAN	chromosome 4 open reading frame 19	311										large_intestine(1)|lung(3)|skin(3)|stomach(1)|urinary_tract(1)	9						GAAGATTTGGATGAGACTGAT	0.552													49	78					0	0	1	0	0	C	37592609	A	C	37592609	3	2	481	1	0	0	0	0	1	0	0	0	2268	333	12	4	938	4	C4orf19	4	37592609	Missense_Mutation	SNP	A	TCGA-TQ-A7RK-01A-11D-A33T-08		37592609	153561667	11	37088											
UGT2B15	7366	broad.mit.edu	37	4	69519890	69519890	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RK-01A-11D-A33T-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee20c616-5ca0-4b81-81a0-fe1551e6f760	4a8c0837-95d6-428f-af78-778185c83361	g.chr4:69519890C>T	ENST00000338206.5	-	5	1187	c.1178G>A	c.(1177-1179)gGc>gAc	p.G393D		NM_001076.3	NP_001067.2	P54855	UDB15_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B15	393					steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity										CAAGGGAATGCCCACCATAGG	0.463													6	506					0	0	1	0	0	T	69519890	C	T	69519890	3	4	481	1	0	0	0	0	1	0	0	0	17018	739	26	2	2039	2	UGT2B15	4	69519890	Missense_Mutation	SNP	C	TCGA-TQ-A7RK-01A-11D-A33T-08	31927281	69519890	121634386	12	37089											
KLHL2	11275	broad.mit.edu	37	4	166239115	166239115	+	Missense_Mutation	SNP	T	T	G			TCGA-TQ-A7RK-01A-11D-A33T-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee20c616-5ca0-4b81-81a0-fe1551e6f760	4a8c0837-95d6-428f-af78-778185c83361	g.chr4:166239115T>G	ENST00000226725.6	+	14	2006	c.1747T>G	c.(1747-1749)Tat>Gat	p.Y583D	KLHL2_ENST00000421009.2_Missense_Mutation_p.Y486D|KLHL2_ENST00000514860.1_Missense_Mutation_p.Y587D|KLHL2_ENST00000538127.1_Missense_Mutation_p.Y495D|KLHL2_ENST00000506761.1_Missense_Mutation_p.Y417D|KLHL2_ENST00000509028.1_3'UTR	NM_007246.3	NP_009177.3	O95198	KLHL2_HUMAN	kelch-like family member 2	583					intracellular protein transport	actin cytoskeleton|cytoplasm	actin binding|transporter activity			endometrium(3)|large_intestine(5)|lung(4)|prostate(1)|urinary_tract(1)	14	all_hematologic(180;0.221)			GBM - Glioblastoma multiforme(119;2.94e-27)|COAD - Colon adenocarcinoma(41;1.4e-05)|Kidney(143;4.95e-05)|KIRC - Kidney renal clear cell carcinoma(143;0.000927)		AGGGAGAAGTTATGCAGGTAA	0.368													44	57					0	0	1	0	0	G	166239115	T	G	166239115	3	3	481	1	0	0	0	0	1	0	0	0	8417	1754	61	5	1843	5	KLHL2	4	166239115	Missense_Mutation	SNP	T	TCGA-TQ-A7RK-01A-11D-A33T-08	96719225	166239115	24915161	13	37090											
RAD50	10111	broad.mit.edu	37	5	131915673	131915673	+	Missense_Mutation	SNP	G	G	A	rs28903088	byFrequency	TCGA-TQ-A7RK-01A-11D-A33T-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee20c616-5ca0-4b81-81a0-fe1551e6f760	4a8c0837-95d6-428f-af78-778185c83361	g.chr5:131915673G>A	ENST00000378823.3	+	5	1072	c.254G>A	c.(253-255)cGt>cAt	p.R85H	RAD50_ENST00000487596.1_3'UTR|RAD50_ENST00000265335.6_Missense_Mutation_p.R224H	NM_005732.3	NP_005723.2	Q92878	RAD50_HUMAN	RAD50 homolog (S. cerevisiae)	224					DNA duplex unwinding|double-strand break repair via homologous recombination|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|telomere maintenance via telomerase	Mre11 complex|nuclear chromosome, telomeric region|nucleoplasm	ATP binding|DNA binding|nuclease activity|protein binding, bridging|zinc ion binding			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		all_cancers(142;0.0368)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TGTGAGATTCGTGATCAGATT	0.348								Homologous recombination					90	192					0	0	1	0	0	A	131915673	G	A	131915673	3	1	481	1	0	0	0	0	1	0	0	0	13036	1145	40	1	689	1	RAD50	5	131915673	Missense_Mutation	SNP	G	TCGA-TQ-A7RK-01A-11D-A33T-08		131915673	48999587	14	37091											
BAK1	578	broad.mit.edu	37	6	33543199	33543199	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RK-01A-11D-A33T-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee20c616-5ca0-4b81-81a0-fe1551e6f760	4a8c0837-95d6-428f-af78-778185c83361	g.chr6:33543199G>A	ENST00000374467.3	-	4	474	c.226C>T	c.(226-228)Cgg>Tgg	p.R76W	BAK1_ENST00000360661.5_Missense_Mutation_p.R76W|BAK1_ENST00000442998.2_Missense_Mutation_p.R76W	NM_001188.3	NP_001179.1	Q16611	BAK_HUMAN	BCL2-antagonist/killer 1	76					activation of pro-apoptotic gene products|cellular response to mechanical stimulus|cellular response to UV|establishment or maintenance of transmembrane electrochemical gradient|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|regulation of mitochondrial membrane permeability|regulation of mitochondrial membrane potential|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|release of cytochrome c from mitochondria	integral to mitochondrial outer membrane|pore complex	metal ion binding|protein heterodimerization activity			large_intestine(1)|lung(1)|ovary(1)|skin(1)	4						GCGAGCTGCCGTCCCACCTGC	0.617													4	90					0	0	1	0	0	A	33543199	G	A	33543199	3	1	481	1	0	0	0	0	1	0	0	0	1303	1144	40	1	421	1	BAK1	6	33543199	Missense_Mutation	SNP	G	TCGA-TQ-A7RK-01A-11D-A33T-08		33543199	137571868	15	37092											
OR6B1	135946	broad.mit.edu	37	7	143701454	143701454	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RK-01A-11D-A33T-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee20c616-5ca0-4b81-81a0-fe1551e6f760	4a8c0837-95d6-428f-af78-778185c83361	g.chr7:143701454G>A	ENST00000408922.2	+	1	433	c.365G>A	c.(364-366)cGg>cAg	p.R122Q		NM_001005281.1	NP_001005281.1	O95007	OR6B1_HUMAN	olfactory receptor, family 6, subfamily B, member 1	122					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|large_intestine(3)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	27	Melanoma(164;0.0783)					GCCTATGACCGGTATGTGGCC	0.522													4	178					0	0	1	0	0	A	143701454	G	A	143701454	3	1	481	1	0	0	0	0	1	0	0	0	11234	1116	39	1	367	1	OR6B1	7	143701454	Missense_Mutation	SNP	G	TCGA-TQ-A7RK-01A-11D-A33T-08		143701454	15437209	16	37093											
POLR1E	64425	broad.mit.edu	37	9	37500851	37500851	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RK-01A-11D-A33T-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee20c616-5ca0-4b81-81a0-fe1551e6f760	4a8c0837-95d6-428f-af78-778185c83361	g.chr9:37500851G>A	ENST00000377792.3	+	9	1375	c.1087G>A	c.(1087-1089)Gga>Aga	p.G363R	POLR1E_ENST00000377798.4_Missense_Mutation_p.G301R|POLR1E_ENST00000442009.2_Missense_Mutation_p.G231R			Q9GZS1	RPA49_HUMAN	polymerase (RNA) I polypeptide E, 53kDa	363					rRNA transcription	cell junction|cytoplasm|nucleolus	DNA binding|DNA-directed RNA polymerase activity|protein binding			autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|skin(1)|stomach(1)	12				GBM - Glioblastoma multiforme(29;0.00851)|Lung(182;0.229)		TCTGGGACCTGGAGTTCCCCA	0.483													42	48					0	0	1	0	0	A	37500851	G	A	37500851	3	1	481	1	0	0	0	0	1	0	0	0	12261	1349	47	2	939	2	POLR1E	9	37500851	Missense_Mutation	SNP	G	TCGA-TQ-A7RK-01A-11D-A33T-08		37500851	103712580	17	37094											
COL5A1	1289	broad.mit.edu	37	9	137591840	137591840	+	Silent	SNP	C	C	T			TCGA-TQ-A7RK-01A-11D-A33T-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee20c616-5ca0-4b81-81a0-fe1551e6f760	4a8c0837-95d6-428f-af78-778185c83361	g.chr9:137591840C>T	ENST00000371817.3	+	3	777	c.363C>T	c.(361-363)aaC>aaT	p.N121N	COL5A1_ENST00000464187.1_3'UTR	NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	121	Laminin G-like.|TSP N-terminal.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CCATCTACAACGAGCAGGGTA	0.587													47	84					0	0	1	0	0	T	137591840	C	T	137591840	2	4	481	1	0	0	0	0	0	0	0	1	3719	535	19	1		1	COL5A1	9	137591840	Silent	SNP	C	TCGA-TQ-A7RK-01A-11D-A33T-08	100090989	137591840	3621591	18	37095											
ALOX5	240	broad.mit.edu	37	10	45941070	45941072	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-TQ-A7RK-01A-11D-A33T-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee20c616-5ca0-4b81-81a0-fe1551e6f760	4a8c0837-95d6-428f-af78-778185c83361	g.chr10:45941070_45941072delAAG	ENST00000374391.2	+	14	2013_2015	c.1960_1962delAAG	c.(1960-1962)aagdel	p.K656del	ALOX5_ENST00000542434.1_In_Frame_Del_p.K599del|RP11-67C2.2_ENST00000435635.1_RNA	NM_000698.3|NM_001256153.1	NP_000689.1|NP_001243082.1	P09917	LOX5_HUMAN	arachidonate 5-lipoxygenase	656	Lipoxygenase.				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process	cytosol|nuclear envelope lumen|nuclear matrix|nuclear membrane	arachidonate 5-lipoxygenase activity|iron ion binding|lipoxygenase activity|protein binding			breast(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Lung SC(717;0.0257)			Diethylcarbamazine(DB00711)|Hydrocortisone(DB00741)|Leflunomide(DB01097)|Masoprocol(DB00179)|Meclofenamic acid(DB00939)|Minocycline(DB01017)|Montelukast(DB00471)|Quinacrine(DB01103)|Vitamin E(DB00163)|Zileuton(DB00744)	TGAGCGCAACAAGAAGAAGCAGC	0.547													57	146	---	---	---	---						-	45941072	AAG	-	45941070	7	5	481	1	0	1	0	1	0	0	0	0	536	131	5	0	2014	0	ALOX5	10	45941070	In_Frame_Del	DEL	AAG	TCGA-TQ-A7RK-01A-11D-A33T-08		45941070	89593677	19	37096											
OR4A5	81318	broad.mit.edu	37	11	51411626	51411626	+	Missense_Mutation	SNP	C	C	G			TCGA-TQ-A7RK-01A-11D-A33T-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee20c616-5ca0-4b81-81a0-fe1551e6f760	4a8c0837-95d6-428f-af78-778185c83361	g.chr11:51411626C>G	ENST00000319760.6	-	1	822	c.770G>C	c.(769-771)aGa>aCa	p.R257T		NM_001005272.3	NP_001005272.3	Q8NH83	OR4A5_HUMAN	olfactory receptor, family 4, subfamily A, member 5	257					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49		all_lung(304;0.236)				TGAAACAGGTCTAACATATAT	0.388													47	70					0	0	1	0	0	G	51411626	C	G	51411626	3	3	481	1	0	0	0	0	1	0	0	0	11091	913	32	4	181	4	OR4A5	11	51411626	Missense_Mutation	SNP	C	TCGA-TQ-A7RK-01A-11D-A33T-08		51411626	83594890	20	37097											
OR5T1	390155	broad.mit.edu	37	11	56043714	56043714	+	Silent	SNP	T	T	C			TCGA-TQ-A7RK-01A-11D-A33T-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee20c616-5ca0-4b81-81a0-fe1551e6f760	4a8c0837-95d6-428f-af78-778185c83361	g.chr11:56043714T>C	ENST00000313033.2	+	1	686	c.600T>C	c.(598-600)tcT>tcC	p.S200S		NM_001004745.1	NP_001004745.1	Q8NG75	OR5T1_HUMAN	olfactory receptor, family 5, subfamily T, member 1	200					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S200S(1)		NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(27)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	43	Esophageal squamous(21;0.00448)					TTGCTATTTCTTGTTCTGACA	0.398													171	234					0	0	1	0	0	C	56043714	T	C	56043714	2	2	481	1	0	0	0	0	0	0	0	1	11228	1596	56	3		3	OR5T1	11	56043714	Silent	SNP	T	TCGA-TQ-A7RK-01A-11D-A33T-08	4632088	56043714	78962802	21	37098											
LRRIQ1	84125	broad.mit.edu	37	12	85623368	85623368	+	Silent	SNP	C	C	T			TCGA-TQ-A7RK-01A-11D-A33T-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee20c616-5ca0-4b81-81a0-fe1551e6f760	4a8c0837-95d6-428f-af78-778185c83361	g.chr12:85623368C>T	ENST00000393217.2	+	25	4957	c.4896C>T	c.(4894-4896)taC>taT	p.Y1632Y	LRRIQ1_ENST00000528777.3_3'UTR	NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	1632										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		AATATACATACCAATGGCTTC	0.358													62	118					0	0	1	0	0	T	85623368	C	T	85623368	2	4	481	1	0	0	0	0	0	0	0	1	9074	518	18	2		2	LRRIQ1	12	85623368	Silent	SNP	C	TCGA-TQ-A7RK-01A-11D-A33T-08		85623368	48228527	22	37099											
C12orf29	91298	broad.mit.edu	37	12	88442074	88442076	+	In_Frame_Del	DEL	GTT	GTT	-			TCGA-TQ-A7RK-01A-11D-A33T-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee20c616-5ca0-4b81-81a0-fe1551e6f760	4a8c0837-95d6-428f-af78-778185c83361	g.chr12:88442074_88442076delGTT	ENST00000356891.3	+	7	1056_1058	c.853_855delGTT	c.(853-855)gttdel	p.V285del		NM_001009894.2	NP_001009894.2	Q8N999	CL029_HUMAN	chromosome 12 open reading frame 29	285										large_intestine(3)|lung(1)|ovary(1)	5						TTCAAGACCAGTTATTATCAACA	0.335													52	119	---	---	---	---						-	88442076	GTT	-	88442074	7	5	481	1	0	1	0	1	0	0	0	0	1686	1029	36	0	879	0	C12orf29	12	88442074	In_Frame_Del	DEL	GTT	TCGA-TQ-A7RK-01A-11D-A33T-08	2818706	88442074	45409821	23	37100											
G2E3	55632	broad.mit.edu	37	14	31074772	31074772	+	Nonsense_Mutation	SNP	A	A	T			TCGA-TQ-A7RK-01A-11D-A33T-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee20c616-5ca0-4b81-81a0-fe1551e6f760	4a8c0837-95d6-428f-af78-778185c83361	g.chr14:31074772A>T	ENST00000206595.6	+	11	1226	c.1072A>T	c.(1072-1074)Aaa>Taa	p.K358*	G2E3_ENST00000553504.1_Nonsense_Mutation_p.K388*|G2E3_ENST00000438909.2_Nonsense_Mutation_p.K312*|G2E3_ENST00000544007.1_Intron	NM_017769.3	NP_060239.2	Q7L622	G2E3_HUMAN	G2/M-phase specific E3 ubiquitin protein ligase	358					apoptosis|multicellular organismal development|protein modification process	Golgi apparatus|nucleolus	acid-amino acid ligase activity|protein binding|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23						ATTCCAAATTAAAAAAAAAAC	0.274													22	35					0	0	1	0	0	T	31074772	A	T	31074772	4	4	481	1	0	0	0	0	0	1	0	0	6175	363	13	5	1110	5	G2E3	14	31074772	Nonsense_Mutation	SNP	A	TCGA-TQ-A7RK-01A-11D-A33T-08		31074772	76274768	24	37101											
THBS1	7057	broad.mit.edu	37	15	39885616	39885616	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RK-01A-11D-A33T-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee20c616-5ca0-4b81-81a0-fe1551e6f760	4a8c0837-95d6-428f-af78-778185c83361	g.chr15:39885616C>T	ENST00000260356.5	+	19	3179	c.3014C>T	c.(3013-3015)gCt>gTt	p.A1005V		NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN	thrombospondin 1	1005	TSP C-terminal.				activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	Becaplermin(DB00102)	GAGTTTAATGCTGTGGACTTC	0.488													9	667					0	0	1	0	0	T	39885616	C	T	39885616	3	4	481	1	0	0	0	0	1	0	0	0	15913	797	28	2	3084	2	THBS1	15	39885616	Missense_Mutation	SNP	C	TCGA-TQ-A7RK-01A-11D-A33T-08		39885616	62645776	25	37102											
KLHDC4	54758	broad.mit.edu	37	16	87782360	87782360	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RK-01A-11D-A33T-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee20c616-5ca0-4b81-81a0-fe1551e6f760	4a8c0837-95d6-428f-af78-778185c83361	g.chr16:87782360G>A	ENST00000270583.5	-	5	483	c.425C>T	c.(424-426)gCc>gTc	p.A142V	KLHDC4_ENST00000347925.5_Missense_Mutation_p.A142V|KLHDC4_ENST00000353170.5_Missense_Mutation_p.A85V	NM_017566.3	NP_060036.2	Q8TBB5	KLDC4_HUMAN	kelch domain containing 4	142										breast(2)|endometrium(3)|lung(10)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(2)	21				BRCA - Breast invasive adenocarcinoma(80;0.0283)		GTTGGGAGAGGCAAACTCCCC	0.547													5	327					0	0	1	0	0	A	87782360	G	A	87782360	3	1	481	1	0	0	0	0	1	0	0	0	8401	1203	42	2	1165	2	KLHDC4	16	87782360	Missense_Mutation	SNP	G	TCGA-TQ-A7RK-01A-11D-A33T-08		87782360	2572393	26	37103											
TP53	7157	broad.mit.edu	37	17	7577548	7577548	+	Missense_Mutation	SNP	C	C	T	rs28934575		TCGA-TQ-A7RK-01A-11D-A33T-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee20c616-5ca0-4b81-81a0-fe1551e6f760	4a8c0837-95d6-428f-af78-778185c83361	g.chr17:7577548C>T	ENST00000420246.2	-	7	865	c.733G>A	c.(733-735)Ggc>Agc	p.G245S	TP53_ENST00000413465.2_Missense_Mutation_p.G245S|TP53_ENST00000455263.2_Missense_Mutation_p.G245S|TP53_ENST00000359597.4_Missense_Mutation_p.G245S|TP53_ENST00000445888.2_Missense_Mutation_p.G245S|TP53_ENST00000269305.4_Missense_Mutation_p.G245S	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	245	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		G -> A (in sporadic cancers; somatic mutation).|G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> E (in a sporadic cancer; somatic mutation).|G -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|G -> L (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934575).|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.G245S(304)|p.G245C(59)|p.G245R(10)|p.G152S(8)|p.0?(8)|p.?(5)|p.G152C(4)|p.G244_M246>V(3)|p.G245N(2)|p.G245fs*2(2)|p.G245H(1)|p.G245L(1)|p.G244fs*17(1)|p.G245F(1)|p.C242_M246>L(1)|p.C238_M246delCNSSCMGGM(1)|p.G245fs*22(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.M243fs*18(1)|p.G151_M153>V(1)|p.G245del(1)|p.G245fs*14(1)|p.G245fs*17(1)|p.G245fs*16(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CGGTTCATGCCGCCCATGCAG	0.577	G245S(LS1034_LARGE_INTESTINE)|G245S(NUGC2_STOMACH)|G245S(PANC0403_PANCREAS)|G245S(SKLMS1_SOFT_TISSUE)|G245S(SKMEL2_SKIN)	111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			104	5					0	0	1	0	0	T	7577548	C	T	7577548	3	4	481	1	0	0	0	0	1	0	0	0	16442	652	23	1	557	1	TP53	17	7577548	Missense_Mutation	SNP	C	TCGA-TQ-A7RK-01A-11D-A33T-08		7577548	73617662	27	37104											
WFIKKN2	124857	broad.mit.edu	37	17	48917204	48917204	+	Frame_Shift_Del	DEL	C	C	-			TCGA-TQ-A7RK-01A-11D-A33T-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee20c616-5ca0-4b81-81a0-fe1551e6f760	4a8c0837-95d6-428f-af78-778185c83361	g.chr17:48917204delC	ENST00000311378.4	+	2	1083	c.555delC	c.(553-555)agcfs	p.S185fs	WFIKKN2_ENST00000426127.1_Frame_Shift_Del_p.S92fs	NM_175575.5	NP_783165.1	Q8TEU8	WFKN2_HUMAN	WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2	185						extracellular region	metalloendopeptidase inhibitor activity|protein binding|serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(13)|ovary(4)|skin(1)	29			BRCA - Breast invasive adenocarcinoma(22;1.09e-08)			CCAACACCAGCCCCCCACCAC	0.627													29	73	---	---	---	---						-	48917204	C	-	48917204	7	5	481	1	0	1	0	1	0	0	0	0	17419	738	26	0	561	0	WFIKKN2	17	48917204	Frame_Shift_Del	DEL	C	TCGA-TQ-A7RK-01A-11D-A33T-08	41339656	48917204	32278006	28	37105											
GH2	2689	broad.mit.edu	37	17	61958759	61958759	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RK-01A-11D-A33T-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee20c616-5ca0-4b81-81a0-fe1551e6f760	4a8c0837-95d6-428f-af78-778185c83361	g.chr17:61958759C>T	ENST00000332800.7	-	2	264	c.131G>A	c.(130-132)cGt>cAt	p.R44H	GH2_ENST00000423893.2_Missense_Mutation_p.R44H|GH2_ENST00000456543.2_Missense_Mutation_p.R44H|GH2_ENST00000449787.2_Missense_Mutation_p.R44H	NM_002059.4|NM_022557.3|NM_022558.3	NP_002050.1|NP_072051.1|NP_072052.1	P01242	SOM2_HUMAN	growth hormone 2	44				Missing (in Ref. 6; AA sequence).		extracellular region	hormone activity			breast(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	24						GTACAGGCGACGGGCGCGGAG	0.572													6	852					0	0	1	0	0	T	61958759	C	T	61958759	3	4	481	1	0	0	0	0	1	0	0	0	6410	536	19	1	875	1	GH2	17	61958759	Missense_Mutation	SNP	C	TCGA-TQ-A7RK-01A-11D-A33T-08	13041555	61958759	19236451	29	37106											
KCTD1	284252	broad.mit.edu	37	18	24128223	24128225	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-TQ-A7RK-01A-11D-A33T-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee20c616-5ca0-4b81-81a0-fe1551e6f760	4a8c0837-95d6-428f-af78-778185c83361	g.chr18:24128223_24128225delTCC	ENST00000417602.1	-	1	275_277	c.276_278delGGA	c.(274-279)gaggaa>gaa	p.92_93EE>E	KCTD1_ENST00000408011.3_Intron|KCTD1_ENST00000579973.1_Intron|KCTD1_ENST00000317932.7_Intron	NM_001142730.2	NP_001136202.1	Q719H9	KCTD1_HUMAN	potassium channel tetramerization domain containing 1	0	BTB.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|voltage-gated potassium channel complex	transcription corepressor activity|transcription factor binding|voltage-gated potassium channel activity			endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(3)	12	all_cancers(21;0.00191)|Lung NSC(5;0.000698)|all_lung(6;0.0019)|Ovarian(20;0.0848)		Epithelial(2;7.8e-06)|OV - Ovarian serous cystadenocarcinoma(3;9.02e-06)|all cancers(3;3.37e-05)			ctcctcctcttcctcctcctcct	0.655													2	4	---	---	---	---						-	24128225	TCC	-	24128223	7	5	481	1	0	1	0	1	0	0	0	0	8140	1783	62	0	2339	0	KCTD1	18	24128223	In_Frame_Del	DEL	TCC	TCGA-TQ-A7RK-01A-11D-A33T-08		24128223	53949025	30	37107											
SETBP1	26040	broad.mit.edu	37	18	42532372	42532372	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RK-01A-11D-A33T-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee20c616-5ca0-4b81-81a0-fe1551e6f760	4a8c0837-95d6-428f-af78-778185c83361	g.chr18:42532372G>A	ENST00000282030.5	+	4	3363	c.3067G>A	c.(3067-3069)Gca>Aca	p.A1023T		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	1023						nucleus	DNA binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		TGGTAGGCCTGCAAAAACCAA	0.448									Schinzel-Giedion syndrome				4	165					0	0	1	0	0	A	42532372	G	A	42532372	3	1	481	1	0	0	0	0	1	0	0	0	14183	1319	46	2	3270	2	SETBP1	18	42532372	Missense_Mutation	SNP	G	TCGA-TQ-A7RK-01A-11D-A33T-08	18404149	42532372	35544876	31	37108											
DOCK6	57572	broad.mit.edu	37	19	11346350	11346350	+	Silent	SNP	G	G	T			TCGA-TQ-A7RK-01A-11D-A33T-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee20c616-5ca0-4b81-81a0-fe1551e6f760	4a8c0837-95d6-428f-af78-778185c83361	g.chr19:11346350G>T	ENST00000294618.7	-	21	2489	c.2478C>A	c.(2476-2478)cgC>cgA	p.R826R	DOCK6_ENST00000319867.7_Silent_p.R130R	NM_020812.3	NP_065863.2	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	826			R -> C (in dbSNP:rs35881692).		blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						GGCAGTGACCGCGGGCATCCT	0.617													3	38					1	1	1	1	0	T	11346350	G	T	11346350	2	4	481	1	0	0	0	0	0	0	0	1	4718	1074	38	5		5	DOCK6	19	11346350	Silent	SNP	G	TCGA-TQ-A7RK-01A-11D-A33T-08		11346350	47782633	32	37109											
SLC1A6	6511	broad.mit.edu	37	19	15061177	15061177	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RK-01A-11D-A33T-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee20c616-5ca0-4b81-81a0-fe1551e6f760	4a8c0837-95d6-428f-af78-778185c83361	g.chr19:15061177C>T	ENST00000430939.2	-	9	1462	c.1333G>A	c.(1333-1335)Gta>Ata	p.V445I	SLC1A6_ENST00000221742.3_Missense_Mutation_p.V509I|SLC1A6_ENST00000600144.1_Missense_Mutation_p.V431I			P48664	EAA4_HUMAN	solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6	509					synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity	p.V509I(1)		breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42					L-Glutamic Acid(DB00142)	TCCCCCAGTACGTTGGTCATT	0.577													33	66					0	0	1	0	0	T	15061177	C	T	15061177	3	4	481	1	0	0	0	0	1	0	0	0	14491	536	19	1	173	1	SLC1A6	19	15061177	Missense_Mutation	SNP	C	TCGA-TQ-A7RK-01A-11D-A33T-08	3714827	15061177	44067806	33	37110											
CPAMD8	27151	broad.mit.edu	37	19	17038819	17038819	+	Splice_Site	SNP	C	C	T			TCGA-TQ-A7RK-01A-11D-A33T-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee20c616-5ca0-4b81-81a0-fe1551e6f760	4a8c0837-95d6-428f-af78-778185c83361	g.chr19:17038819C>T	ENST00000443236.1	-	25	3542	c.3511G>A	c.(3511-3513)Ggg>Agg	p.G1171R		NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	1124						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						ACAGACGCACCGATGATGGAG	0.637													43	65					0	0	1	0	0	T	17038819	C	T	17038819	5	4	481	1	0	0	0	0	0	0	1	0	3818	666	23	1	2359	1	CPAMD8	19	17038819	Splice_Site	SNP	C	TCGA-TQ-A7RK-01A-11D-A33T-08	1977642	17038819	42090164	34	37111											
ZNF512B	57473	broad.mit.edu	37	20	62597735	62597735	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RK-01A-11D-A33T-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee20c616-5ca0-4b81-81a0-fe1551e6f760	4a8c0837-95d6-428f-af78-778185c83361	g.chr20:62597735G>A	ENST00000450537.1	-	5	853	c.793C>T	c.(793-795)Ccg>Tcg	p.P265S	ZNF512B_ENST00000217130.3_Missense_Mutation_p.P265S|ZNF512B_ENST00000369888.1_Missense_Mutation_p.P265S			Q96KM6	Z512B_HUMAN	zinc finger protein 512B	265					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1)	33	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					TTGGTGACCGGCACAGACTTG	0.572													6	805					0	0	1	0	0	A	62597735	G	A	62597735	3	1	481	1	0	0	0	0	1	0	0	0	18014	1203	42	2	1937	2	ZNF512B	20	62597735	Missense_Mutation	SNP	G	TCGA-TQ-A7RK-01A-11D-A33T-08		62597735	427785	35	37112											
KRTAP10-1	386677	broad.mit.edu	37	21	45959819	45959819	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RK-01A-11D-A33T-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee20c616-5ca0-4b81-81a0-fe1551e6f760	4a8c0837-95d6-428f-af78-778185c83361	g.chr21:45959819G>A	ENST00000400375.1	-	1	259	c.215C>T	c.(214-216)aCc>aTc	p.T72I	TSPEAR_ENST00000323084.4_Intron|TSPEAR_ENST00000397916.1_Intron	NM_198691.2	NP_941964.2	P60331	KR101_HUMAN	keratin associated protein 10-1	72	24 X 5 AA repeats of C-C-X(3).					keratin filament				breast(1)|central_nervous_system(1)|endometrium(1)|lung(3)|prostate(4)|skin(1)	11						GCAGGAGCTGGTGCAGCCTGA	0.711													5	212					0	0	1	0	0	A	45959819	G	A	45959819	3	1	481	1	0	0	0	0	1	0	0	0	8548	1261	44	2	637	2	KRTAP10-1	21	45959819	Missense_Mutation	SNP	G	TCGA-TQ-A7RK-01A-11D-A33T-08		45959819	2170076	36	37113											
MN1	4330	broad.mit.edu	37	22	28195603	28195605	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-TQ-A7RK-01A-11D-A33T-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee20c616-5ca0-4b81-81a0-fe1551e6f760	4a8c0837-95d6-428f-af78-778185c83361	g.chr22:28195603_28195605delTGC	ENST00000302326.4	-	1	1881_1883	c.927_929delGCA	c.(925-930)cagcat>cat	p.Q309del		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	309							binding			NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						GAACACACCAtgctgctgctgct	0.64			T	ETV6	"AML, meningioma"								2	4	---	---	---	---						-	28195605	TGC	-	28195603	7	5	481	1	0	1	0	1	0	0	0	0	9722	1464	51	0	3041	0	MN1	22	28195603	In_Frame_Del	DEL	TGC	TCGA-TQ-A7RK-01A-11D-A33T-08		28195603	23108963	37	37114											
PPARA	5465	broad.mit.edu	37	22	46627789	46627789	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RK-01A-11D-A33T-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee20c616-5ca0-4b81-81a0-fe1551e6f760	4a8c0837-95d6-428f-af78-778185c83361	g.chr22:46627789G>A	ENST00000396000.2	+	7	1077	c.812G>A	c.(811-813)cGc>cAc	p.R271H	PPARA_ENST00000434345.2_3'UTR|PPARA_ENST00000262735.5_Missense_Mutation_p.R271H|PPARA_ENST00000402126.1_Missense_Mutation_p.R271H|PPARA_ENST00000407236.1_Missense_Mutation_p.R271H			Q07869	PPARA_HUMAN	peroxisome proliferator-activated receptor alpha	271					fatty acid metabolic process|fatty acid transport|negative regulation of appetite|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fatty acid beta-oxidation|regulation of cellular ketone metabolic process by positive regulation of transcription from an RNA polymerase II promoter|regulation of glycolysis by positive regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by positive regulation of transcription from an RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	drug binding|ligand-regulated transcription factor activity|lipid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|ubiquitin conjugating enzyme binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	15		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00522)	Atorvastatin(DB01076)|Bezafibrate(DB01393)|Clofibrate(DB00636)|Fenofibrate(DB01039)|Gemfibrozil(DB01241)|Simvastatin(DB00641)	GCGGAGGTCCGCATCTTTCAC	0.557													4	112					0	0	1	0	0	A	46627789	G	A	46627789	3	1	481	1	0	0	0	0	1	0	0	0	12342	1087	38	1	830	1	PPARA	22	46627789	Missense_Mutation	SNP	G	TCGA-TQ-A7RK-01A-11D-A33T-08	18432186	46627789	4676777	38	37115											
MXRA5	25878	broad.mit.edu	37	X	3235706	3235706	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RK-01A-11D-A33T-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee20c616-5ca0-4b81-81a0-fe1551e6f760	4a8c0837-95d6-428f-af78-778185c83361	g.chrX:3235706C>T	ENST00000217939.6	-	6	6170	c.6016G>A	c.(6016-6018)Gaa>Aaa	p.E2006K		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2006	Ig-like C2-type 4.					extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GTCCGGTTTTCGTGCAGGGTG	0.622													22	21					0	0	1	0	0	T	3235706	C	T	3235706	3	4	481	1	0	0	0	0	1	0	0	0	10051	893	31	1	2478	1	MXRA5	23	3235706	Missense_Mutation	SNP	C	TCGA-TQ-A7RK-01A-11D-A33T-08		3235706	152034854	39	37116											
ATRX	546	broad.mit.edu	37	X	76909614	76909614	+	Nonsense_Mutation	SNP	G	G	A			TCGA-TQ-A7RK-01A-11D-A33T-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee20c616-5ca0-4b81-81a0-fe1551e6f760	4a8c0837-95d6-428f-af78-778185c83361	g.chrX:76909614G>A	ENST00000373344.5	-	14	4505	c.4291C>T	c.(4291-4293)Caa>Taa	p.Q1431*	ATRX_ENST00000395603.3_Nonsense_Mutation_p.Q1393*|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1431					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	GAATCTTCTTGAACCTTAATA	0.353			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						113	18					0	0	1	0	0	A	76909614	G	A	76909614	4	1	481	1	0	0	0	0	0	1	0	0	1206	1299	45	2	3275	2	ATRX	23	76909614	Nonsense_Mutation	SNP	G	TCGA-TQ-A7RK-01A-11D-A33T-08	73673908	76909614	78360946	40	37117											
UBE2NL	389898	broad.mit.edu	37	X	142967509	142967509	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RK-01A-11D-A33T-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee20c616-5ca0-4b81-81a0-fe1551e6f760	4a8c0837-95d6-428f-af78-778185c83361	g.chrX:142967509C>T	ENST00000370494.1	+	1	337	c.307C>T	c.(307-309)Cgc>Tgc	p.R103C		NM_001012989.1	NP_001013007.1	Q5JXB2	UE2NL_HUMAN	ubiquitin-conjugating enzyme E2N-like	103							acid-amino acid ligase activity	p.R103C(1)		breast(1)|endometrium(1)|large_intestine(8)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	24	Acute lymphoblastic leukemia(192;6.56e-05)					CCTGCAGATCCGCACAGTTCT	0.423													4	110					0	0	1	0	0	T	142967509	C	T	142967509	3	4	481	1	0	0	0	0	1	0	0	0	16928	652	23	1	309	1	UBE2NL	23	142967509	Missense_Mutation	SNP	C	TCGA-TQ-A7RK-01A-11D-A33T-08	66057895	142967509	12303051	41	37118											
FBXO42	54455	broad.mit.edu	37	1	16577865	16577865	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr1:16577865C>T	ENST00000375592.3	-	10	1670	c.1454G>A	c.(1453-1455)cGa>cAa	p.R485Q		NM_018994.1	NP_061867.1	Q6P3S6	FBX42_HUMAN	F-box protein 42	485										autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	26		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00475)|all_lung(284;0.00671)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0193)|Colorectal(212;3.16e-07)|COAD - Colon adenocarcinoma(227;1.46e-05)|BRCA - Breast invasive adenocarcinoma(304;4.37e-05)|Kidney(64;0.000246)|KIRC - Kidney renal clear cell carcinoma(64;0.00336)|STAD - Stomach adenocarcinoma(313;0.0139)|READ - Rectum adenocarcinoma(331;0.0693)		TGATCCTCGTCGGGGGGCCAA	0.483													75	82					0	0	1	0	0	T	16577865	C	T	16577865	3	4	482	1	0	0	0	0	1	0	0	0	5784	884	31	1	703	1	FBXO42	1	16577865	Missense_Mutation	SNP	C	TCGA-TQ-A7RM-01A-11D-A33T-08		16577865	232672756	1	37119											
KIF2C	11004	broad.mit.edu	37	1	45223763	45223763	+	Missense_Mutation	SNP	A	A	G			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr1:45223763A>G	ENST00000372217.1	+	12	1364	c.1013A>G	c.(1012-1014)aAg>aGg	p.K338R	KIF2C_ENST00000372224.4_Missense_Mutation_p.K392R|KIF2C_ENST00000372218.4_Missense_Mutation_p.K351R|KIF2C_ENST00000372222.3_Missense_Mutation_p.K279R			Q99661	KIF2C_HUMAN	kinesin family member 2C	392	Kinesin-motor.				blood coagulation|cell division|cell proliferation|chromosome segregation|establishment or maintenance of microtubule cytoskeleton polarity|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|kinesin complex|microtubule|nucleus	ATP binding|centromeric DNA binding|microtubule motor activity|microtubule plus-end binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(1)|skin(1)|urinary_tract(1)	34	Acute lymphoblastic leukemia(166;0.155)					TGCTACCGGAAGTTGGGCCTG	0.522													104	135					0	0	1	0	0	G	45223763	A	G	45223763	3	3	482	1	0	0	0	0	1	0	0	0	8341	72	3	3	1225	3	KIF2C	1	45223763	Missense_Mutation	SNP	A	TCGA-TQ-A7RM-01A-11D-A33T-08	28645898	45223763	204026858	2	37120											
C8B	732	broad.mit.edu	37	1	57397487	57397487	+	Silent	SNP	C	C	T			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr1:57397487C>T	ENST00000543257.1	-	12	2027	c.1461G>A	c.(1459-1461)cgG>cgA	p.R487R	C8B_ENST00000535057.1_Silent_p.R477R|C8B_ENST00000371237.4_Silent_p.R539R	NM_001278543.1	NP_001265472.1	P07358	CO8B_HUMAN	complement component 8, beta polypeptide	539	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						ACTTACTCTTCCGATAGGAGA	0.502													16	56					0	0	1	0	0	T	57397487	C	T	57397487	2	4	482	1	0	0	0	0	0	0	0	1	2433	842	30	2		2	C8B	1	57397487	Silent	SNP	C	TCGA-TQ-A7RM-01A-11D-A33T-08	12173724	57397487	191853134	3	37121											
GFI1	2672	broad.mit.edu	37	1	92941692	92941692	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr1:92941692C>T	ENST00000370332.1	-	7	1481	c.1163G>A	c.(1162-1164)cGc>cAc	p.R388H	GFI1_ENST00000427103.1_Missense_Mutation_p.R388H|GFI1_ENST00000294702.5_Missense_Mutation_p.R388H	NM_001127215.1	NP_001120687.1	Q99684	GFI1_HUMAN	growth factor independent 1 transcription repressor	388					negative regulation of calcidiol 1-monooxygenase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription involved in G1/S phase of mitotic cell cycle|transcription, DNA-dependent|viral reproduction	nucleus	protein binding|transcription regulatory region DNA binding|zinc ion binding			autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	15		all_lung(203;0.00292)|Lung NSC(277;0.0115)|all_neural(321;0.185)|Glioma(108;0.203)		OV - Ovarian serous cystadenocarcinoma(397;9.04e-07)|Epithelial(280;1.17e-05)|all cancers(265;5.61e-05)|GBM - Glioblastoma multiforme(16;0.0191)		TGTGTGTTTGCGGCTGTGGGT	0.622													20	24					0	0	1	0	0	T	92941692	C	T	92941692	3	4	482	1	0	0	0	0	1	0	0	0	6381	768	27	1	109	1	GFI1	1	92941692	Missense_Mutation	SNP	C	TCGA-TQ-A7RM-01A-11D-A33T-08	35544205	92941692	156308929	4	37122											
LRRC39	127495	broad.mit.edu	37	1	100621829	100621829	+	Silent	SNP	G	G	A			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr1:100621829G>A	ENST00000370138.1	-	7	756	c.558C>T	c.(556-558)aaC>aaT	p.N186N	LRRC39_ENST00000370137.1_Silent_p.N186N|LRRC39_ENST00000342895.3_Silent_p.N186N	NM_001256385.1	NP_001243314.1	Q96DD0	LRC39_HUMAN	leucine rich repeat containing 39	186										endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(1)	13		all_epithelial(167;0.000542)|all_lung(203;0.0154)|Lung NSC(277;0.0155)		Epithelial(280;0.0826)|all cancers(265;0.135)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.195)		TAGTAAAATCGTTCATACTCA	0.383													5	110					0	0	1	0	0	A	100621829	G	A	100621829	2	1	482	1	0	0	0	0	0	0	0	1	9040	1136	40	1		1	LRRC39	1	100621829	Silent	SNP	G	TCGA-TQ-A7RM-01A-11D-A33T-08	7680137	100621829	148628792	5	37123											
OTUD7B	56957	broad.mit.edu	37	1	149919215	149919215	+	Silent	SNP	G	G	A			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr1:149919215G>A	ENST00000369135.4	-	11	1554	c.1260C>T	c.(1258-1260)gtC>gtT	p.V420V		NM_020205.2	NP_064590.2	Q6GQQ9	OTU7B_HUMAN	OTU domain containing 7B		Catalytic.				negative regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|microtubule cytoskeleton|nucleus	cysteine-type peptidase activity|DNA binding|protein binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247)			GATGCAATTTGACCTCTAGGG	0.418													40	46					0	0	1	0	0	A	149919215	G	A	149919215	2	1	482	1	0	0	0	0	0	0	0	1	11366	1277	45	2		2	OTUD7B	1	149919215	Silent	SNP	G	TCGA-TQ-A7RM-01A-11D-A33T-08	49297386	149919215	99331406	6	37124											
FLG2	388698	broad.mit.edu	37	1	152324115	152324115	+	Silent	SNP	G	G	A	rs146074268		TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr1:152324115G>A	ENST00000388718.5	-	3	6219	c.6147C>T	c.(6145-6147)caC>caT	p.H2049H	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	2049							calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGCCATGAGCGTGTCCTGAAT	0.532													15	969					0	0	1	0	0	A	152324115	G	A	152324115	2	1	482	1	0	0	0	0	0	0	0	1	5956	1136	40	1		1	FLG2	1	152324115	Silent	SNP	G	TCGA-TQ-A7RM-01A-11D-A33T-08	2404900	152324115	96926506	7	37125											
LCE1C	353133	broad.mit.edu	37	1	152777784	152777784	+	Silent	SNP	C	C	T			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr1:152777784C>T	ENST00000368768.1	-	2	221	c.171G>A	c.(169-171)ggG>ggA	p.G57G	LCE1C_ENST00000607093.1_Silent_p.G57G	NM_178351.3	NP_848128.1	Q5T751	LCE1C_HUMAN	late cornified envelope 1C	57	Gly-rich.				keratinization					NS(1)|lung(4)|prostate(1)|skin(2)|urinary_tract(1)	9	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CACAGCTGCCCCCAGAGCTGG	0.667													82	82					0	0	1	0	0	T	152777784	C	T	152777784	2	4	482	1	0	0	0	0	0	0	0	1	8700	610	22	2		2	LCE1C	1	152777784	Silent	SNP	C	TCGA-TQ-A7RM-01A-11D-A33T-08	453669	152777784	96472837	8	37126											
THBS3	7059	broad.mit.edu	37	1	155166890	155166890	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr1:155166890G>A	ENST00000368378.3	-	21	2634	c.2614C>T	c.(2614-2616)Cgg>Tgg	p.R872W	THBS3_ENST00000541990.1_Missense_Mutation_p.R401W|RP11-263K19.4_ENST00000447623.1_RNA|THBS3_ENST00000457183.2_Missense_Mutation_p.R752W|THBS3_ENST00000541576.1_Missense_Mutation_p.R269W	NM_001252607.1|NM_007112.4	NP_001239536.1|NP_009043.1	P49746	TSP3_HUMAN	thrombospondin 3	872	TSP C-terminal.				cell-matrix adhesion	extracellular region|perinuclear region of cytoplasm	calcium ion binding|heparin binding|structural molecule activity			breast(6)|endometrium(4)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(3)	48	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			GTCTTGTCCCGCCAGCCCACA	0.622													4	133					0	0	1	0	0	A	155166890	G	A	155166890	3	1	482	1	0	0	0	0	1	0	0	0	15915	1086	38	1	268	1	THBS3	1	155166890	Missense_Mutation	SNP	G	TCGA-TQ-A7RM-01A-11D-A33T-08	2389106	155166890	94083731	9	37127											
HHIPL2	79802	broad.mit.edu	37	1	222721259	222721259	+	Missense_Mutation	SNP	G	G	T			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr1:222721259G>T	ENST00000343410.6	-	1	186	c.128C>A	c.(127-129)cCc>cAc	p.P43H		NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN	HHIP-like 2	43					carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding			NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		CAGGCACTGGGGGTGTCCCTG	0.602													14	70					9.31168e-06	9.97091e-06	1	1	0	T	222721259	G	T	222721259	3	4	482	1	0	0	0	0	1	0	0	0	7135	1232	43	5	2082	5	HHIPL2	1	222721259	Missense_Mutation	SNP	G	TCGA-TQ-A7RM-01A-11D-A33T-08	67554369	222721259	26529362	10	37128											
OR2G2	81470	broad.mit.edu	37	1	247752473	247752473	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr1:247752473G>A	ENST00000320065.1	+	1	812	c.812G>A	c.(811-813)aGg>aAg	p.R271K	RP11-978I15.10_ENST00000446347.1_RNA|RP11-978I15.10_ENST00000435333.1_RNA	NM_001001915.1	NP_001001915.1	Q8NGZ5	OR2G2_HUMAN	olfactory receptor, family 2, subfamily G, member 2	271					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_cancers(71;3.24e-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)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			AGTAGATCCAGGGACCAGGGC	0.478													205	143					0	0	1	0	0	A	247752473	G	A	247752473	3	1	482	1	0	0	0	0	1	0	0	0	11046	1000	35	2	814	2	OR2G2	1	247752473	Missense_Mutation	SNP	G	TCGA-TQ-A7RM-01A-11D-A33T-08	25031214	247752473	1498148	11	37129											
C2orf16	84226	broad.mit.edu	37	2	27804907	27804907	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr2:27804907G>A	ENST00000408964.2	+	1	5519	c.5468G>A	c.(5467-5469)cGc>cAc	p.R1823H		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	1823	27 X 8 AA approximative tandem repeat of P-S-E-R-S-H-H-S.|Arg-rich.									breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					AGGAGCCATCGCAGTCCCTCT	0.552													106	145					0	0	1	0	0	A	27804907	G	A	27804907	3	1	482	1	0	0	0	0	1	0	0	0	2171	1087	38	1	5470	1	C2orf16	2	27804907	Missense_Mutation	SNP	G	TCGA-TQ-A7RM-01A-11D-A33T-08		27804907	215394466	12	37130											
SOS1	6654	broad.mit.edu	37	2	39283896	39283896	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr2:39283896G>A	ENST00000426016.1	-	5	543	c.457C>T	c.(457-459)Cgg>Tgg	p.R153W	SOS1_ENST00000428721.2_Missense_Mutation_p.R96W|SOS1_ENST00000395038.2_Missense_Mutation_p.R153W|SOS1_ENST00000402219.2_Missense_Mutation_p.R153W			Q07889	SOS1_HUMAN	son of sevenless homolog 1 (Drosophila)	153					apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	DNA binding|protein binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	75		all_hematologic(82;0.21)				TCATAATGCCGTATATTTCTT	0.308									Noonan syndrome				5	557					0	0	1	0	0	A	39283896	G	A	39283896	3	1	482	1	0	0	0	0	1	0	0	0	14990	1144	40	1	3624	1	SOS1	2	39283896	Missense_Mutation	SNP	G	TCGA-TQ-A7RM-01A-11D-A33T-08	11478989	39283896	203915477	13	37131											
SPTBN1	6711	broad.mit.edu	37	2	54877008	54877008	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr2:54877008G>A	ENST00000333896.5	+	25	5805	c.5420G>A	c.(5419-5421)cGt>cAt	p.R1807H	SPTBN1_ENST00000356805.4_Missense_Mutation_p.R1820H	NM_178313.2	NP_842565.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	1820	Interaction with ANK2.				actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			ATCTTTGGGCGTATACAGGAC	0.483													4	141					0	0	1	0	0	A	54877008	G	A	54877008	3	1	482	1	0	0	0	0	1	0	0	0	15175	1145	40	1	5670	1	SPTBN1	2	54877008	Missense_Mutation	SNP	G	TCGA-TQ-A7RM-01A-11D-A33T-08	15593112	54877008	188322365	14	37132											
TGOLN2	10618	broad.mit.edu	37	2	85554507	85554507	+	Silent	SNP	C	C	T			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr2:85554507C>T	ENST00000377386.3	-	2	810	c.348G>A	c.(346-348)gcG>gcA	p.A116A	TGOLN2_ENST00000398263.2_Silent_p.A116A|TGOLN2_ENST00000409015.1_Silent_p.A116A|TGOLN2_ENST00000409232.3_Silent_p.A116A|TGOLN2_ENST00000444342.2_Silent_p.A116A|TGOLN2_ENST00000282120.2_Intron			O43493	TGON2_HUMAN	trans-golgi network protein 2	116	14 X 14 AA tandem repeats.					integral to membrane|nucleus|plasma membrane|trans-Golgi network|transport vesicle	protein binding										TTGTGGTCTGCGCCTCCGAAC	0.572													8	1409					0	0	1	0	0	T	85554507	C	T	85554507	2	4	482	1	0	0	0	0	0	0	0	1	15896	755	27	1		1	TGOLN2	2	85554507	Silent	SNP	C	TCGA-TQ-A7RM-01A-11D-A33T-08	30677499	85554507	157644866	15	37133											
ZAP70	7535	broad.mit.edu	37	2	98349621	98349621	+	Missense_Mutation	SNP	C	C	G			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr2:98349621C>G	ENST00000264972.5	+	6	951	c.736C>G	c.(736-738)Ctc>Gtc	p.L246V	ZAP70_ENST00000442208.1_Missense_Mutation_p.L120V|ZAP70_ENST00000463643.1_3'UTR	NM_001079.3	NP_001070.2	P43403	ZAP70_HUMAN	zeta-chain (TCR) associated protein kinase 70kDa	246	SH2 2.				immune response|intracellular protein kinase cascade|positive thymic T cell selection|T cell receptor signaling pathway	cytosol|T cell receptor complex	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	29						GGCGGACGGGCTCATCTACTG	0.682													3	75					0	0	1	0	0	G	98349621	C	G	98349621	3	3	482	1	0	0	0	0	1	0	0	0	17574	797	28	4	750	4	ZAP70	2	98349621	Missense_Mutation	SNP	C	TCGA-TQ-A7RM-01A-11D-A33T-08	12795114	98349621	144849752	16	37134											
PLA2R1	22925	broad.mit.edu	37	2	160862319	160862319	+	Missense_Mutation	SNP	A	A	T			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr2:160862319A>T	ENST00000283243.7	-	11	1884	c.1678T>A	c.(1678-1680)Ttt>Att	p.F560I	PLA2R1_ENST00000392771.1_Missense_Mutation_p.F560I	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1, 180kDa	560	C-type lectin 3.				endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						CTGGTAATAAAAGCCTGTTCA	0.363													102	164					0	0	1	0	0	T	160862319	A	T	160862319	3	4	482	1	0	0	0	0	1	0	0	0	12058	14	1	5	2801	5	PLA2R1	2	160862319	Missense_Mutation	SNP	A	TCGA-TQ-A7RM-01A-11D-A33T-08	62512698	160862319	82337054	17	37135											
TTN	7273	broad.mit.edu	37	2	179536914	179536914	+	Missense_Mutation	SNP	C	C	A			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr2:179536914C>A	ENST00000589042.1	-	155	35235	c.35011G>T	c.(35011-35013)Gta>Tta	p.V11671L	TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.V11297L|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V10370L|TTN-AS1_ENST00000589487.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	11537	Glu-rich.|Pro-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			tctgcttctactacttctaat	0.363													3	20					1	1	1	1	0	A	179536914	C	A	179536914	3	1	482	1	0	0	0	0	1	0	0	0	16797	565	20	4	69529	4	TTN	2	179536914	Missense_Mutation	SNP	C	TCGA-TQ-A7RM-01A-11D-A33T-08	18674595	179536914	63662459	18	37136											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								71	76					0	0	1	0	0	T	209113112	C	T	209113112	3	4	482	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-TQ-A7RM-01A-11D-A33T-08	29576198	209113112	34086261	19	37137											
LTF	4057	broad.mit.edu	37	3	46490455	46490455	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr3:46490455C>T	ENST00000231751.4	-	9	1406	c.1111G>A	c.(1111-1113)Gag>Aag	p.E371K	LTF_ENST00000417439.1_Missense_Mutation_p.E371K|LTF_ENST00000426532.2_Missense_Mutation_p.E327K	NM_002343.3	NP_002334.2	P02788	TRFL_HUMAN	lactotransferrin	371	Transferrin-like 2.				cellular iron ion homeostasis|defense response to bacterium|humoral immune response|iron ion transport	extracellular region|stored secretory granule	ferric iron binding|heparin binding|protein binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	40				all cancers(1;7.55e-14)|GBM - Glioblastoma multiforme(1;2.1e-09)|Epithelial(1;9.25e-07)|Colorectal(1;3.81e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00129)|COAD - Colon adenocarcinoma(1;0.00308)|KIRC - Kidney renal clear cell carcinoma(197;0.0205)|Kidney(197;0.0242)|OV - Ovarian serous cystadenocarcinoma(275;0.089)	Pefloxacin(DB00487)	AGCTCCTGCTCGCCCACCGCA	0.662													19	26					0	0	1	0	0	T	46490455	C	T	46490455	3	4	482	1	0	0	0	0	1	0	0	0	9124	893	31	1	1057	1	LTF	3	46490455	Missense_Mutation	SNP	C	TCGA-TQ-A7RM-01A-11D-A33T-08		46490455	151531975	20	37138											
MAP4	4134	broad.mit.edu	37	3	47908750	47908750	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr3:47908750G>A	ENST00000426837.2	-	17	6574	c.6487C>T	c.(6487-6489)Cct>Tct	p.P2163S	MAP4_ENST00000360240.6_Missense_Mutation_p.P1018S|MAP4_ENST00000420772.2_Missense_Mutation_p.P711S|MAP4_ENST00000441748.2_Missense_Mutation_p.P132S|MAP4_ENST00000264724.11_Missense_Mutation_p.P753S|MAP4_ENST00000395734.3_Missense_Mutation_p.P1018S|MAP4_ENST00000383737.4_Intron			P27816	MAP4_HUMAN	microtubule-associated protein 4	1018					negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(2)	32				BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736)		CCACCTCCAGGGACATGCTTA	0.448													125	146					0	0	1	0	0	A	47908750	G	A	47908750	3	1	482	1	0	0	0	0	1	0	0	0	9308	1232	43	2	577	2	MAP4	3	47908750	Missense_Mutation	SNP	G	TCGA-TQ-A7RM-01A-11D-A33T-08	1418295	47908750	150113680	21	37139											
DZIP3	9666	broad.mit.edu	37	3	108351853	108351853	+	Silent	SNP	G	G	A			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr3:108351853G>A	ENST00000361582.3	+	9	980	c.750G>A	c.(748-750)acG>acA	p.T250T	DZIP3_ENST00000463306.1_Silent_p.T250T	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN	DAZ interacting zinc finger protein 3	250					protein polyubiquitination	cytoplasm	polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						TGAAGCAGACGATTTGTAGTT	0.274													5	482					0	0	1	0	0	A	108351853	G	A	108351853	2	1	482	1	0	0	0	0	0	0	0	1	4891	1045	37	1		1	DZIP3	3	108351853	Silent	SNP	G	TCGA-TQ-A7RM-01A-11D-A33T-08	60443103	108351853	89670577	22	37140											
ETV5	2119	broad.mit.edu	37	3	185798911	185798911	+	Missense_Mutation	SNP	A	A	G			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr3:185798911A>G	ENST00000306376.5	-	6	532	c.286T>C	c.(286-288)Tcc>Ccc	p.S96P	ETV5_ENST00000434744.1_Missense_Mutation_p.S96P|ETV5_ENST00000537818.1_Missense_Mutation_p.S138P	NM_004454.2	NP_004445.1	P41161	ETV5_HUMAN	ets variant 5	96					cellular response to oxidative stress	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(2)|cervix(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	28	all_cancers(143;4.06e-12)|Ovarian(172;0.0386)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.62e-24)			AGCTCAGAGGAGGGGCTGTGC	0.522			T	"TMPRSS2, SCL45A3"	Prostate								9	323					0	0	1	0	0	G	185798911	A	G	185798911	3	3	482	1	0	0	0	0	1	0	0	0	5310	304	11	3	1278	3	ETV5	3	185798911	Missense_Mutation	SNP	A	TCGA-TQ-A7RM-01A-11D-A33T-08	77447058	185798911	12223519	23	37141											
ARAP2	116984	broad.mit.edu	37	4	36179548	36179548	+	Silent	SNP	A	A	G			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr4:36179548A>G	ENST00000303965.4	-	9	2247	c.1758T>C	c.(1756-1758)gtT>gtC	p.V586V		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	586					regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						TCTCAGGTGTAACAACAGCTT	0.393													57	167					0	0	1	0	0	G	36179548	A	G	36179548	2	3	482	1	0	0	0	0	0	0	0	1	836	349	13	3		3	ARAP2	4	36179548	Silent	SNP	A	TCGA-TQ-A7RM-01A-11D-A33T-08		36179548	154974728	24	37142											
GABRB1	2560	broad.mit.edu	37	4	47033952	47033952	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr4:47033952G>A	ENST00000295454.3	+	2	394	c.102G>A	c.(100-102)atG>atA	p.M34I	GABRB1_ENST00000538619.1_5'UTR|GABRB1_ENST00000509366.1_3'UTR	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 1	34					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44					Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	CCAGCAACATGTCATACGTGA	0.453													73	272					0	0	1	0	0	A	47033952	G	A	47033952	3	1	482	1	0	0	0	0	1	0	0	0	6201	1377	48	2	108	2	GABRB1	4	47033952	Missense_Mutation	SNP	G	TCGA-TQ-A7RM-01A-11D-A33T-08	10854404	47033952	144120324	25	37143											
CXCL6	6372	broad.mit.edu	37	4	74702739	74702739	+	Silent	SNP	G	G	A			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr4:74702739G>A	ENST00000226317.5	+	2	422	c.168G>A	c.(166-168)ctG>ctA	p.L56L	CXCL6_ENST00000515050.1_Silent_p.L56L	NM_002993.3	NP_002984.1	P80162	CXCL6_HUMAN	chemokine (C-X-C motif) ligand 6	56					cell-cell signaling|chemotaxis|immune response|inflammatory response|signal transduction	extracellular space	chemokine activity|heparin binding			large_intestine(1)|lung(7)	8	Breast(15;0.00102)		all cancers(17;0.00176)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)			GCGTTACGCTGAGAGTAAACC	0.532													74	7					0	0	1	0	0	A	74702739	G	A	74702739	2	1	482	1	0	0	0	0	0	0	0	1	4111	1277	45	2		2	CXCL6	4	74702739	Silent	SNP	G	TCGA-TQ-A7RM-01A-11D-A33T-08	27668787	74702739	116451537	26	37144											
LIFR	3977	broad.mit.edu	37	5	38506633	38506633	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr5:38506633G>A	ENST00000263409.4	-	8	1255	c.1093C>T	c.(1093-1095)Cgt>Tgt	p.R365C	LIFR_ENST00000503088.1_5'UTR|LIFR_ENST00000453190.2_Missense_Mutation_p.R365C	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor alpha	365	Fibronectin type-III 2.				positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity			NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					CTTGTAGCACGTGGGCCCACC	0.418			T	PLAG1	salivary adenoma								67	72					0	0	1	0	0	A	38506633	G	A	38506633	3	1	482	1	0	0	0	0	1	0	0	0	8820	1145	40	1	2252	1	LIFR	5	38506633	Missense_Mutation	SNP	G	TCGA-TQ-A7RM-01A-11D-A33T-08		38506633	142408627	27	37145											
PTCD2	79810	broad.mit.edu	37	5	71616216	71616216	+	Nonsense_Mutation	SNP	C	C	T			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr5:71616216C>T	ENST00000380639.5	+	1	23	c.7C>T	c.(7-9)Cga>Tga	p.R3*	PTCD2_ENST00000543322.1_Nonsense_Mutation_p.R3*|PTCD2_ENST00000503868.1_Nonsense_Mutation_p.R3*	NM_024754.3	NP_079030.3	Q8WV60	PTCD2_HUMAN	pentatricopeptide repeat domain 2	3										breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(1)|skin(1)	11		Lung NSC(167;0.00237)|Ovarian(174;0.0175)|Prostate(461;0.141)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.73e-53)		TGGTATGGTCCGAGACAGTAT	0.612													4	106					0	0	1	0	0	T	71616216	C	T	71616216	4	4	482	1	0	0	0	0	0	1	0	0	12777	644	23	1	9	1	PTCD2	5	71616216	Nonsense_Mutation	SNP	C	TCGA-TQ-A7RM-01A-11D-A33T-08	33109583	71616216	109299044	28	37146											
SLCO4C1	353189	broad.mit.edu	37	5	101575025	101575025	+	Silent	SNP	A	A	G			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr5:101575025A>G	ENST00000310954.6	-	12	2230	c.1944T>C	c.(1942-1944)aaT>aaC	p.N648N		NM_180991.4	NP_851322.3	Q6ZQN7	SO4C1_HUMAN	solute carrier organic anion transporter family, member 4C1	648					cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		TTCCACAATCATTTATATCCC	0.343													21	122					0	0	1	0	0	G	101575025	A	G	101575025	2	3	482	1	0	0	0	0	0	0	0	1	14785	214	8	3		3	SLCO4C1	5	101575025	Silent	SNP	A	TCGA-TQ-A7RM-01A-11D-A33T-08	29958809	101575025	79340235	29	37147											
FAM50B	26240	broad.mit.edu	37	6	3850197	3850197	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr6:3850197C>T	ENST00000380274.1	+	1	578	c.152C>T	c.(151-153)gCg>gTg	p.A51V	FAM50B_ENST00000380272.3_Missense_Mutation_p.A51V			Q9Y247	FA50B_HUMAN	family with sequence similarity 50, member B	51						nucleus				cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(3)|urinary_tract(3)	17	Ovarian(93;0.0925)	all_hematologic(90;0.108)				AGGTTCTCGGCGCATTACGAC	0.647													3	51					0	0	1	0	0	T	3850197	C	T	3850197	3	4	482	1	0	0	0	0	1	0	0	0	5614	768	27	1	154	1	FAM50B	6	3850197	Missense_Mutation	SNP	C	TCGA-TQ-A7RM-01A-11D-A33T-08		3850197	167264870	30	37148											
GJA1	2697	broad.mit.edu	37	6	121769018	121769018	+	Missense_Mutation	SNP	A	A	G			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr6:121769018A>G	ENST00000282561.3	+	2	1182	c.1025A>G	c.(1024-1026)cAg>cGg	p.Q342R		NM_000165.3	NP_000156.1	P17302	CXA1_HUMAN	gap junction protein, alpha 1, 43kDa	342					cell-cell signaling|cellular membrane organization|gap junction assembly|heart development|muscle contraction|positive regulation of I-kappaB kinase/NF-kappaB cascade	connexon complex|Golgi-associated vesicle membrane|integral to plasma membrane|membrane raft	ion transmembrane transporter activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(2)|large_intestine(10)|liver(2)|lung(13)|ovary(2)	33				GBM - Glioblastoma multiforme(226;0.00252)	Carvedilol(DB01136)	GATGATAACCAGAATTCTAAA	0.498													91	68					0	0	1	0	0	G	121769018	A	G	121769018	3	3	482	1	0	0	0	0	1	0	0	0	6442	188	7	3	1027	3	GJA1	6	121769018	Missense_Mutation	SNP	A	TCGA-TQ-A7RM-01A-11D-A33T-08	117918821	121769018	49346049	31	37149											
ULBP3	79465	broad.mit.edu	37	6	150387113	150387113	+	Missense_Mutation	SNP	G	G	T			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr6:150387113G>T	ENST00000367339.2	-	2	302	c.274C>A	c.(274-276)Ctg>Atg	p.L92M	ULBP3_ENST00000438272.2_Missense_Mutation_p.L92M			Q9BZM4	N2DL3_HUMAN	UL16 binding protein 3		MHC class I alpha-1 like.				antigen processing and presentation|immune response|natural killer cell activation	anchored to membrane|MHC class I protein complex	MHC class I receptor activity			central_nervous_system(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	9		Ovarian(120;0.12)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.45e-12)		AGCATTTCCAGTTGTTTTCCC	0.507													61	201					2.18419e-29	2.49328e-29	1	1	0	T	150387113	G	T	150387113	3	4	482	1	0	0	0	0	1	0	0	0	17034	1020	36	4	471	4	ULBP3	6	150387113	Missense_Mutation	SNP	G	TCGA-TQ-A7RM-01A-11D-A33T-08	28618095	150387113	20727954	32	37150											
TAX1BP1	8887	broad.mit.edu	37	7	27856589	27856589	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr7:27856589G>A	ENST00000396319.2	+	15	2105	c.2017G>A	c.(2017-2019)Gtt>Att	p.V673I	TAX1BP1_ENST00000265393.6_Missense_Mutation_p.V631I|TAX1BP1_ENST00000409980.1_Missense_Mutation_p.V697I|TAX1BP1_ENST00000543117.1_Missense_Mutation_p.V631I|TAX1BP1_ENST00000433216.2_Missense_Mutation_p.V474I	NM_006024.6	NP_006015.4	Q86VP1	TAXB1_HUMAN	Tax1 (human T-cell leukemia virus type I) binding protein 1	673					anti-apoptosis|apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production	cytosol	identical protein binding|kinase binding|zinc ion binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(8)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31			GBM - Glioblastoma multiforme(3;0.0823)			GGAAGACAATGTTGTCTGCAG	0.453													31	264					0	0	1	0	0	A	27856589	G	A	27856589	3	1	482	1	0	0	0	0	1	0	0	0	15651	1377	48	2	2071	2	TAX1BP1	7	27856589	Missense_Mutation	SNP	G	TCGA-TQ-A7RM-01A-11D-A33T-08		27856589	131282074	33	37151											
MUC17	140453	broad.mit.edu	37	7	100679419	100679419	+	Silent	SNP	A	A	G			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr7:100679419A>G	ENST00000306151.4	+	3	4786	c.4722A>G	c.(4720-4722)ccA>ccG	p.P1574P		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1574	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GAAGCACTCCACTAACAAGTT	0.488													9	557					0	0	1	0	0	G	100679419	A	G	100679419	2	3	482	1	0	0	0	0	0	0	0	1	10022	146	6	3		3	MUC17	7	100679419	Silent	SNP	A	TCGA-TQ-A7RM-01A-11D-A33T-08	72822830	100679419	58459244	34	37152											
FLNC	2318	broad.mit.edu	37	7	128481609	128481609	+	Silent	SNP	G	G	A			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr7:128481609G>A	ENST00000325888.8	+	13	2370	c.2109G>A	c.(2107-2109)aaG>aaA	p.K703K	FLNC_ENST00000346177.6_Silent_p.K703K	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	703					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						GAGACCTGAAGCTCTATGCCC	0.622													33	250					0	0	1	0	0	A	128481609	G	A	128481609	2	1	482	1	0	0	0	0	0	0	0	1	5968	962	34	2		2	FLNC	7	128481609	Silent	SNP	G	TCGA-TQ-A7RM-01A-11D-A33T-08	27802190	128481609	30657054	35	37153											
HOOK3	84376	broad.mit.edu	37	8	42829299	42829299	+	Missense_Mutation	SNP	G	G	T			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr8:42829299G>T	ENST00000307602.4	+	13	1483	c.1283G>T	c.(1282-1284)cGt>cTt	p.R428L		NM_032410.3	NP_115786.1	Q86VS8	HOOK3_HUMAN	hook microtubule-tethering protein 3	428					cytoplasmic microtubule organization|early endosome to late endosome transport|endosome organization|endosome to lysosome transport|Golgi localization|interkinetic nuclear migration|lysosome organization|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome|protein transport	cis-Golgi network|FHF complex|microtubule|pericentriolar material	identical protein binding|microtubule binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	31	Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.000105)|Lung NSC(58;0.000419)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.048)|LUSC - Lung squamous cell carcinoma(45;0.114)			GAAGAGCTTCGTTGTGTACAA	0.408			T	RET	papillary thyroid								10	278					4.68919e-08	5.11164e-08	1	1	0	T	42829299	G	T	42829299	3	4	482	1	0	0	0	0	1	0	0	0	7325	1145	40	5	1333	5	HOOK3	8	42829299	Missense_Mutation	SNP	G	TCGA-TQ-A7RM-01A-11D-A33T-08		42829299	103534723	36	37154											
CHCHD7	79145	broad.mit.edu	37	8	57129008	57129008	+	Missense_Mutation	SNP	C	C	A			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr8:57129008C>A	ENST00000523975.1	+	4	255	c.107C>A	c.(106-108)aCc>aAc	p.T36N	CHCHD7_ENST00000521831.1_Missense_Mutation_p.P39T|CHCHD7_ENST00000303759.3_Missense_Mutation_p.T49N|CHCHD7_ENST00000519367.1_Missense_Mutation_p.P39T|CHCHD7_ENST00000518801.1_Missense_Mutation_p.P51T|CHCHD7_ENST00000521524.1_Missense_Mutation_p.P51T|CHCHD7_ENST00000396723.5_Missense_Mutation_p.T33N|CHCHD7_ENST00000523061.1_Missense_Mutation_p.T24N|CHCHD7_ENST00000517933.1_Missense_Mutation_p.T24N|CHCHD7_ENST00000355315.3_Missense_Mutation_p.T24N			Q9BUK0	CHCH7_HUMAN	coiled-coil-helix-coiled-coil-helix domain containing 7	24	CHCH.								CHCHD7/PLAG1(12)	endometrium(1)	1		all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125)	Epithelial(17;0.00159)|all cancers(17;0.0112)			GATGCTTCCACCAGATGTCTG	0.398			T	PLAG1	salivary adenoma								5	201					0.000602214	0.000622803	1	1	0	A	57129008	C	A	57129008	3	1	482	1	0	0	0	0	1	0	0	0	3343	507	18	5	200	5	CHCHD7	8	57129008	Missense_Mutation	SNP	C	TCGA-TQ-A7RM-01A-11D-A33T-08	14299709	57129008	89235014	37	37155											
CA2	760	broad.mit.edu	37	8	86386583	86386583	+	Missense_Mutation	SNP	G	G	C			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr8:86386583G>C	ENST00000285379.5	+	4	612	c.382G>C	c.(382-384)Ggg>Cgg	p.G128R		NM_000067.2	NP_000058.1	P00918	CAH2_HUMAN	carbonic anhydrase II	128					one-carbon metabolic process	apical part of cell	carbonate dehydratase activity|zinc ion binding			central_nervous_system(2)|cervix(1)|large_intestine(2)|lung(5)|prostate(1)	11					Acetazolamide(DB00819)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Dorzolamide(DB00869)|Ethinamate(DB01031)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Topiramate(DB00273)|Trichlormethiazide(DB01021)	CACCAAATATGGGGATTTTGG	0.398													5	425					0	0	1	0	0	C	86386583	G	C	86386583	3	2	482	1	0	0	0	0	1	0	0	0	2534	1348	47	5	396	5	CA2	8	86386583	Missense_Mutation	SNP	G	TCGA-TQ-A7RM-01A-11D-A33T-08	29257575	86386583	59977439	38	37156											
RBM12B	389677	broad.mit.edu	37	8	94748635	94748635	+	Missense_Mutation	SNP	C	C	A			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr8:94748635C>A	ENST00000399300.2	-	3	217	c.4G>T	c.(4-6)Gct>Tct	p.A2S	RBM12B_ENST00000520961.1_Intron|RBM12B_ENST00000517700.1_Missense_Mutation_p.A2S	NM_203390.2	NP_976324.2	Q8IXT5	RB12B_HUMAN	RNA binding motif protein 12B	2							nucleotide binding|RNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			ATGACTACAGCCATGCTGAGC	0.433													8	202					0.000157383	0.000165595	1	1	0	A	94748635	C	A	94748635	3	1	482	1	0	0	0	0	1	0	0	0	13166	739	26	5	3005	5	RBM12B	8	94748635	Missense_Mutation	SNP	C	TCGA-TQ-A7RM-01A-11D-A33T-08	8362052	94748635	51615387	39	37157											
RRM2B	50484	broad.mit.edu	37	8	103226348	103226348	+	Nonsense_Mutation	SNP	G	G	C			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr8:103226348G>C	ENST00000251810.3	-	7	966	c.723C>G	c.(721-723)taC>taG	p.Y241*	RRM2B_ENST00000395912.2_Nonsense_Mutation_p.Y189*|RRM2B_ENST00000519962.1_Intron|RRM2B_ENST00000519317.1_Nonsense_Mutation_p.Y29*	NM_001172478.1|NM_015713.4	NP_001165949.1|NP_056528.2	Q7LG56	RIR2B_HUMAN	ribonucleotide reductase M2 B (TP53 inducible)	241					deoxyribonucleoside diphosphate metabolic process|DNA repair|nucleobase, nucleoside and nucleotide interconversion	nucleoplasm	ribonucleoside-diphosphate reductase activity|transition metal ion binding			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	9	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000728)			TATTTACTAAGTATTGGAACA	0.378								Modulation of nucleotide pools					32	193					0	0	1	0	0	C	103226348	G	C	103226348	4	2	482	1	0	0	0	0	0	1	0	0	13735	1024	36	4	344	4	RRM2B	8	103226348	Nonsense_Mutation	SNP	G	TCGA-TQ-A7RM-01A-11D-A33T-08	8477713	103226348	43137674	40	37158											
CSMD3	114788	broad.mit.edu	37	8	113349859	113349859	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr8:113349859G>A	ENST00000297405.5	-	43	6998	c.6754C>T	c.(6754-6756)Cca>Tca	p.P2252S	CSMD3_ENST00000343508.3_Missense_Mutation_p.P2212S|CSMD3_ENST00000352409.3_Missense_Mutation_p.P2182S|CSMD3_ENST00000455883.2_Missense_Mutation_p.P2148S	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2252	Sushi 12.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GTGTATCCTGGGAAACATTCA	0.413										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			7	347					0	0	1	0	0	A	113349859	G	A	113349859	3	1	482	1	0	0	0	0	1	0	0	0	3971	1232	43	2	4485	2	CSMD3	8	113349859	Missense_Mutation	SNP	G	TCGA-TQ-A7RM-01A-11D-A33T-08	10123511	113349859	33014163	41	37159											
DENND3	22898	broad.mit.edu	37	8	142161887	142161887	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr8:142161887C>T	ENST00000519811.1	+	7	1095	c.1025C>T	c.(1024-1026)aCg>aTg	p.T342M	DENND3_ENST00000262585.2_Missense_Mutation_p.T262M|DENND3_ENST00000424248.1_Missense_Mutation_p.T262M			A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	262										breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			ATGGCCCCCACGTCCTTCCTG	0.547													86	111					0	0	1	0	0	T	142161887	C	T	142161887	3	4	482	1	0	0	0	0	1	0	0	0	4460	536	19	1	807	1	DENND3	8	142161887	Missense_Mutation	SNP	C	TCGA-TQ-A7RM-01A-11D-A33T-08	28812028	142161887	4202135	42	37160											
ACO1	48	broad.mit.edu	37	9	32420980	32420980	+	Missense_Mutation	SNP	T	T	C			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr9:32420980T>C	ENST00000309951.6	+	8	1063	c.925T>C	c.(925-927)Ttt>Ctt	p.F309L	ACO1_ENST00000379923.1_Missense_Mutation_p.F309L|ACO1_ENST00000541043.1_Missense_Mutation_p.F210L	NM_002197.2	NP_002188.1	P21399	ACOC_HUMAN	aconitase 1, soluble						citrate metabolic process|response to iron(II) ion|tricarboxylic acid cycle	cytosol|endoplasmic reticulum|Golgi apparatus	4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron-responsive element binding|isocitrate hydro-lyase (cis-aconitate-forming) activity|metal ion binding|protein binding			breast(1)|endometrium(7)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	30			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;3.94e-06)		AACTGCTGCCTTTTTCCCAGT	0.483													5	748					0	0	1	0	0	C	32420980	T	C	32420980	3	2	482	1	0	0	0	0	1	0	0	0	146	1609	56	3	951	3	ACO1	9	32420980	Missense_Mutation	SNP	T	TCGA-TQ-A7RM-01A-11D-A33T-08		32420980	108792451	43	37161											
PIP5K1B	8395	broad.mit.edu	37	9	71606159	71606159	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr9:71606159C>T	ENST00000265382.3	+	15	1911	c.1606C>T	c.(1606-1608)Ctt>Ttt	p.L536F	PIP5K1B_ENST00000541509.1_Intron	NM_003558.2	NP_003549.1	O14986	PI51B_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, beta	0						endomembrane system|membrane|uropod	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|protein binding			breast(1)|large_intestine(2)|stomach(1)	4				Lung(182;0.133)		TGCTTCTGTGCTTGACGTCTA	0.433													25	160					0	0	1	0	0	T	71606159	C	T	71606159	3	4	482	1	0	0	0	0	1	0	0	0	11988	797	28	2	1652	2	PIP5K1B	9	71606159	Missense_Mutation	SNP	C	TCGA-TQ-A7RM-01A-11D-A33T-08	39185179	71606159	69607272	44	37162											
KLF9	687	broad.mit.edu	37	9	73002695	73002695	+	Missense_Mutation	SNP	C	C	G			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr9:73002695C>G	ENST00000377126.2	-	2	1992	c.732G>C	c.(730-732)ttG>ttC	p.L244F		NM_001206.2	NP_001197.1	Q13886	KLF9_HUMAN	Kruppel-like factor 9	244					regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(3)|lung(1)|prostate(2)|urinary_tract(1)	9						CAGCACCTCACAAAGCGTTGG	0.587													22	126					0	0	1	0	0	G	73002695	C	G	73002695	3	3	482	1	0	0	0	0	1	0	0	0	8396	477	17	5	6	5	KLF9	9	73002695	Missense_Mutation	SNP	C	TCGA-TQ-A7RM-01A-11D-A33T-08	1396536	73002695	68210736	45	37163											
RMI1	80010	broad.mit.edu	37	9	86617400	86617400	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr9:86617400G>A	ENST00000325875.3	+	3	1831	c.1499G>A	c.(1498-1500)aGc>aAc	p.S500N		NM_024945.2	NP_079221.2	Q9H9A7	RMI1_HUMAN	RecQ mediated genome instability 1	500					DNA replication	nucleus				biliary_tract(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18						CTAATGGCCAGCAAACCAAAG	0.363													5	506					0	0	1	0	0	A	86617400	G	A	86617400	3	1	482	1	0	0	0	0	1	0	0	0	13447	971	34	2	1501	2	RMI1	9	86617400	Missense_Mutation	SNP	G	TCGA-TQ-A7RM-01A-11D-A33T-08	13614705	86617400	54596031	46	37164											
OR1N1	138883	broad.mit.edu	37	9	125289088	125289088	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr9:125289088G>A	ENST00000304880.2	-	1	484	c.485C>T	c.(484-486)gCt>gTt	p.A162V		NM_012363.1	NP_036495.1	Q8NGS0	OR1N1_HUMAN	olfactory receptor, family 1, subfamily N, member 1	162					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|large_intestine(2)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						GGACAACCGAGCCATGAGGAA	0.512													16	96					0	0	1	0	0	A	125289088	G	A	125289088	3	1	482	1	0	0	0	0	1	0	0	0	11017	971	34	2	454	2	OR1N1	9	125289088	Missense_Mutation	SNP	G	TCGA-TQ-A7RM-01A-11D-A33T-08	38671688	125289088	15924343	47	37165											
OR51I1	390063	broad.mit.edu	37	11	5462403	5462403	+	Silent	SNP	T	T	A			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr11:5462403T>A	ENST00000380211.1	-	1	341	c.342A>T	c.(340-342)tcA>tcT	p.S114S	AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron	NM_001005288.2	NP_001005288.1	Q9H343	O51I1_HUMAN	olfactory receptor, family 51, subfamily I, member 1	114					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCAGTATGCCTGACTCCATGA	0.458													4	122					0	0	1	0	0	A	5462403	T	A	5462403	2	1	482	1	0	0	0	0	0	0	0	1	11148	1567	55	5		5	OR51I1	11	5462403	Silent	SNP	T	TCGA-TQ-A7RM-01A-11D-A33T-08		5462403	129544113	48	37166											
SMPD1	6609	broad.mit.edu	37	11	6412705	6412705	+	Missense_Mutation	SNP	T	T	C			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr11:6412705T>C	ENST00000342245.4	+	2	578	c.410T>C	c.(409-411)gTc>gCc	p.V137A	SMPD1_ENST00000356761.2_Missense_Mutation_p.V137A|SMPD1_ENST00000299397.3_Missense_Mutation_p.V137A|SMPD1_ENST00000533196.1_Intron|SMPD1_ENST00000527275.1_Missense_Mutation_p.V136A	NM_000543.4|NM_001007593.2	NP_000534.3|NP_001007594.2	P17405	ASM_HUMAN	sphingomyelin phosphodiesterase 1, acid lysosomal	135	Saposin B-type.		L -> P (in NPDB).		cell death|ceramide biosynthetic process|negative regulation of MAP kinase activity|nervous system development|positive regulation of protein dephosphorylation|signal transduction|sphingomyelin catabolic process|termination of signal transduction	lysosome	hydrolase activity, acting on glycosyl bonds|sphingomyelin phosphodiesterase activity			breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(3)	23		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;4.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	Desipramine(DB01151)	CAATCCATTGTCCACCTCTTT	0.602													11	37					0	0	1	0	0	C	6412705	T	C	6412705	3	2	482	1	0	0	0	0	1	0	0	0	14858	1667	58	3	416	3	SMPD1	11	6412705	Missense_Mutation	SNP	T	TCGA-TQ-A7RM-01A-11D-A33T-08	950302	6412705	128593811	49	37167											
MRGPRX2	117194	broad.mit.edu	37	11	19076984	19076984	+	Silent	SNP	C	C	T			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr11:19076984C>T	ENST00000329773.2	-	2	1053	c.966G>A	c.(964-966)ccG>ccA	p.P322P		NM_054030.2	NP_473371.1	Q96LB1	MRGX2_HUMAN	MAS-related GPR, member X2	322					sensory perception of pain|sleep	plasma membrane	G-protein coupled receptor activity|neuropeptide binding			NS(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	15						TCGACATCTCCGGGGTGCCCT	0.557													7	92					0	0	1	0	0	T	19076984	C	T	19076984	2	4	482	1	0	0	0	0	0	0	0	1	9816	639	23	1		1	MRGPRX2	11	19076984	Silent	SNP	C	TCGA-TQ-A7RM-01A-11D-A33T-08	12664279	19076984	115929532	50	37168											
AHNAK	79026	broad.mit.edu	37	11	62297887	62297887	+	Silent	SNP	C	C	T			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr11:62297887C>T	ENST00000378024.4	-	5	4276	c.4002G>A	c.(4000-4002)ggG>ggA	p.G1334G	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	1334					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TCAATTTTGGCCCCTTAAGAT	0.493													5	535					0	0	1	0	0	T	62297887	C	T	62297887	2	4	482	1	0	0	0	0	0	0	0	1	411	726	26	2		2	AHNAK	11	62297887	Silent	SNP	C	TCGA-TQ-A7RM-01A-11D-A33T-08	43220903	62297887	72708629	51	37169											
PLCB3	5331	broad.mit.edu	37	11	64030204	64030204	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr11:64030204G>A	ENST00000540288.1	+	19	2382	c.2279G>A	c.(2278-2280)cGc>cAc	p.R760H	PLCB3_ENST00000279230.6_Missense_Mutation_p.R760H|PLCB3_ENST00000325234.5_Missense_Mutation_p.R693H	NM_000932.2	NP_000923.1	Q01970	PLCB3_HUMAN	phospholipase C, beta 3 (phosphatidylinositol-specific)	760	C2.				intracellular signal transduction|lipid catabolic process|synaptic transmission	cytosol	calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1)	33						GATACGCGGCGCAAGTACCGC	0.637													6	173					0	0	1	0	0	A	64030204	G	A	64030204	3	1	482	1	0	0	0	0	1	0	0	0	12077	1087	38	1	2353	1	PLCB3	11	64030204	Missense_Mutation	SNP	G	TCGA-TQ-A7RM-01A-11D-A33T-08	1732317	64030204	70976312	52	37170											
PDE2A	5138	broad.mit.edu	37	11	72300242	72300242	+	Missense_Mutation	SNP	T	T	C			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr11:72300242T>C	ENST00000334456.5	-	12	1161	c.916A>G	c.(916-918)Atc>Gtc	p.I306V	PDE2A_ENST00000418754.2_Missense_Mutation_p.I191V|PDE2A_ENST00000444035.2_Missense_Mutation_p.I297V|PDE2A_ENST00000376450.3_Intron|PDE2A_ENST00000540345.1_Missense_Mutation_p.I297V|PDE2A_ENST00000544570.1_Missense_Mutation_p.I299V	NM_002599.4	NP_002590.1	O00408	PDE2A_HUMAN	phosphodiesterase 2A, cGMP-stimulated	306	GAF 1.				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity|metal ion binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	36			BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		Sildenafil(DB00203)|Sulindac(DB00605)	TTCAGCTGGATGGACTTCTTG	0.602													25	24					0	0	1	0	0	C	72300242	T	C	72300242	3	2	482	1	0	0	0	0	1	0	0	0	11683	1464	51	3	1989	3	PDE2A	11	72300242	Missense_Mutation	SNP	T	TCGA-TQ-A7RM-01A-11D-A33T-08	8270038	72300242	62706274	53	37171											
ZW10	9183	broad.mit.edu	37	11	113607355	113607355	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr11:113607355C>T	ENST00000200135.3	-	15	2350	c.2206G>A	c.(2206-2208)Gaa>Aaa	p.E736K		NM_004724.3	NP_004715.1	O43264	ZW10_HUMAN	zw10 kinetochore protein	736					cell division|ER to Golgi vesicle-mediated transport|establishment of mitotic spindle orientation|meiosis|mitotic cell cycle checkpoint|mitotic metaphase plate congression|mitotic prometaphase|protein complex assembly|protein localization to kinetochore|protein transport|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|endoplasmic reticulum membrane|kinetochore microtubule|nucleus|spindle pole	centromeric DNA binding|protein binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	18		all_cancers(61;3.84e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000237)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.94e-06)|Epithelial(105;0.000103)|all cancers(92;0.000786)		TCCCCAATTTCTTGCAAGCTG	0.413													83	288					0	0	1	0	0	T	113607355	C	T	113607355	3	4	482	1	0	0	0	0	1	0	0	0	18287	922	32	2	141	2	ZW10	11	113607355	Missense_Mutation	SNP	C	TCGA-TQ-A7RM-01A-11D-A33T-08	41307113	113607355	21399161	54	37172											
HSPA8	3312	broad.mit.edu	37	11	122928983	122928983	+	Missense_Mutation	SNP	T	T	C			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr11:122928983T>C	ENST00000534624.1	-	8	2008	c.1732A>G	c.(1732-1734)Atc>Gtc	p.I578V	HSPA8_ENST00000453788.2_Intron|HSPA8_ENST00000526110.1_Missense_Mutation_p.I559V|HSPA8_ENST00000532636.1_Missense_Mutation_p.I578V|HSPA8_ENST00000227378.3_Missense_Mutation_p.I578V|HSPA8_ENST00000533540.1_Missense_Mutation_p.I432V|HSPA8_ENST00000534319.1_Missense_Mutation_p.I342V	NM_006597.4	NP_006588.1	P11142	HSP7C_HUMAN	heat shock 70kDa protein 8	578					cellular membrane organization|interspecies interaction between organisms|mRNA metabolic process|negative regulation of transcription, DNA-dependent|neurotransmitter secretion|post-Golgi vesicle-mediated transport|protein folding|response to unfolded protein|transcription, DNA-dependent	cell surface|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|melanosome|plasma membrane|ribonucleoprotein complex	ATP binding|ATPase activity, coupled|protein binding			breast(1)|central_nervous_system(7)|endometrium(1)|kidney(9)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	36		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		AGCCAGTTGATAATTTCATTA	0.393													5	226					0	0	1	0	0	C	122928983	T	C	122928983	3	2	482	1	0	0	0	0	1	0	0	0	7459	1406	49	3	216	3	HSPA8	11	122928983	Missense_Mutation	SNP	T	TCGA-TQ-A7RM-01A-11D-A33T-08	9321628	122928983	12077533	55	37173											
OR8B3	390271	broad.mit.edu	37	11	124266802	124266802	+	Missense_Mutation	SNP	T	T	A			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr11:124266802T>A	ENST00000354597.3	-	1	462	c.446A>T	c.(445-447)tAc>tTc	p.Y149F		NM_001005467.1	NP_001005467.1	Q8NGG8	OR8B3_HUMAN	olfactory receptor, family 8, subfamily B, member 3	149					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		TCCCATTATGTAAGCAGCAAA	0.473													9	46					0	0	1	0	0	A	124266802	T	A	124266802	3	1	482	1	0	0	0	0	1	0	0	0	11275	1638	57	5	497	5	OR8B3	11	124266802	Missense_Mutation	SNP	T	TCGA-TQ-A7RM-01A-11D-A33T-08	1337819	124266802	10739714	56	37174											
LRP6	4040	broad.mit.edu	37	12	12279789	12279789	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr12:12279789G>A	ENST00000261349.4	-	20	4224	c.4148C>T	c.(4147-4149)aCc>aTc	p.T1383I	LRP6_ENST00000543091.1_Missense_Mutation_p.T1338I|BCL2L14_ENST00000396369.1_Intron|LRP6_ENST00000540415.1_Intron	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	1383					cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				CACAAAAATGGTGACAATTAC	0.408													35	158					0	0	1	0	0	A	12279789	G	A	12279789	3	1	482	1	0	0	0	0	1	0	0	0	9007	1261	44	2	709	2	LRP6	12	12279789	Missense_Mutation	SNP	G	TCGA-TQ-A7RM-01A-11D-A33T-08		12279789	121572106	57	37175											
CAPRIN2	65981	broad.mit.edu	37	12	30882096	30882096	+	Missense_Mutation	SNP	C	C	A			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr12:30882096C>A	ENST00000251071.5	-	8	2018	c.1268G>T	c.(1267-1269)tGg>tTg	p.W423L	CAPRIN2_ENST00000538387.1_5'UTR|CAPRIN2_ENST00000308433.5_Missense_Mutation_p.W90L|CAPRIN2_ENST00000395805.2_Missense_Mutation_p.W423L|CAPRIN2_ENST00000417045.1_Missense_Mutation_p.W423L|CAPRIN2_ENST00000298892.5_Missense_Mutation_p.W423L	NM_001002259.1|NM_032156.3	NP_001002259.1|NP_115532.3	Q6IMN6	CAPR2_HUMAN	caprin family member 2	423					negative regulation of cell growth|negative regulation of translation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of transcription from RNA polymerase II promoter	mitochondrion|receptor complex	receptor binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	48	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					AGAAGCCTCCCAGGACTTAAA	0.468													58	181					1.27334e-21	1.43994e-21	1	1	0	A	30882096	C	A	30882096	3	1	482	1	0	0	0	0	1	0	0	0	2654	595	21	5	2159	5	CAPRIN2	12	30882096	Missense_Mutation	SNP	C	TCGA-TQ-A7RM-01A-11D-A33T-08	18602307	30882096	102969799	58	37176											
PRICKLE1	144165	broad.mit.edu	37	12	42854058	42854058	+	Silent	SNP	G	G	A			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr12:42854058G>A	ENST00000455697.1	-	8	2334	c.2049C>T	c.(2047-2049)tcC>tcT	p.S683S	PRICKLE1_ENST00000548696.1_Silent_p.S683S|RP11-328C8.4_ENST00000547824.1_RNA|PRICKLE1_ENST00000445766.2_Silent_p.S683S|PRICKLE1_ENST00000552240.1_Silent_p.S683S|PRICKLE1_ENST00000345127.3_Silent_p.S683S	NM_001144882.1|NM_001144883.1	NP_001138354.1|NP_001138355.1	Q96MT3	PRIC1_HUMAN	prickle homolog 1 (Drosophila)	683					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein import into nucleus	cytosol|nuclear membrane	zinc ion binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(13)|ovary(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	47	all_cancers(12;4.25e-05)|Breast(8;0.176)			GBM - Glioblastoma multiforme(48;0.2)		GGGCATTGTCGGAGCGGGACT	0.483													4	175					0	0	1	0	0	A	42854058	G	A	42854058	2	1	482	1	0	0	0	0	0	0	0	1	12538	1103	39	1		1	PRICKLE1	12	42854058	Silent	SNP	G	TCGA-TQ-A7RM-01A-11D-A33T-08	11971962	42854058	90997837	59	37177											
LRP1	4035	broad.mit.edu	37	12	57575037	57575037	+	Silent	SNP	C	C	T			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr12:57575037C>T	ENST00000243077.3	+	34	6091	c.5625C>T	c.(5623-5625)gcC>gcT	p.A1875A		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	1875	EGF-like 8.				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	TGTGCACAGCCGGCTATAGCC	0.642													47	88					0	0	1	0	0	T	57575037	C	T	57575037	2	4	482	1	0	0	0	0	0	0	0	1	8996	639	23	1		1	LRP1	12	57575037	Silent	SNP	C	TCGA-TQ-A7RM-01A-11D-A33T-08	14720979	57575037	76276858	60	37178											
CCDC64	92558	broad.mit.edu	37	12	120509568	120509568	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr12:120509568G>A	ENST00000397558.2	+	5	1052	c.1052G>A	c.(1051-1053)aGc>aAc	p.S351N	CCDC64_ENST00000446727.2_Missense_Mutation_p.S95N|CCDC64_ENST00000257583.4_5'UTR	NM_207311.2	NP_997194.2	Q6ZP65	BICR1_HUMAN	coiled-coil domain containing 64	351					Golgi to secretory granule transport|neuron projection development	centrosome	dynactin binding|Rab GTPase binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	22	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					ATCGAGCAGAGCATGGAGGCT	0.612													21	16					0	0	1	0	0	A	120509568	G	A	120509568	3	1	482	1	0	0	0	0	1	0	0	0	2855	971	34	2	1070	2	CCDC64	12	120509568	Missense_Mutation	SNP	G	TCGA-TQ-A7RM-01A-11D-A33T-08	62934531	120509568	13342327	61	37179											
HS6ST3	266722	broad.mit.edu	37	13	97485304	97485304	+	Missense_Mutation	SNP	A	A	G			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr13:97485304A>G	ENST00000376705.2	+	2	1292	c.1268A>G	c.(1267-1269)aAg>aGg	p.K423R		NM_153456.3	NP_703157.2	Q8IZP7	H6ST3_HUMAN	heparan sulfate 6-O-sulfotransferase 3	423						integral to membrane	sulfotransferase activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(1)	20	all_neural(89;0.0878)|Medulloblastoma(90;0.163)					CACCACACCAAGCAGCTAGAG	0.592													83	111					0	0	1	0	0	G	97485304	A	G	97485304	3	3	482	1	0	0	0	0	1	0	0	0	7413	72	3	3	1274	3	HS6ST3	13	97485304	Missense_Mutation	SNP	A	TCGA-TQ-A7RM-01A-11D-A33T-08		97485304	17684574	62	37180											
DOCK9	23348	broad.mit.edu	37	13	99532924	99532924	+	Silent	SNP	G	G	A			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr13:99532924G>A	ENST00000376460.1	-	26	2828	c.2748C>T	c.(2746-2748)taC>taT	p.Y916Y	DOCK9_ENST00000339416.2_Silent_p.Y917Y|DOCK9_ENST00000448493.2_Silent_p.Y928Y|DOCK9_ENST00000442173.1_Silent_p.Y916Y	NM_001130048.1|NM_015296.2	NP_001123520.1|NP_056111.1	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9	917					blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CCTTATACGCGTACTTTGAAG	0.463													21	33					0	0	1	0	0	A	99532924	G	A	99532924	2	1	482	1	0	0	0	0	0	0	0	1	4721	1140	40	1		1	DOCK9	13	99532924	Silent	SNP	G	TCGA-TQ-A7RM-01A-11D-A33T-08	2047620	99532924	15636954	63	37181											
C14orf37	145407	broad.mit.edu	37	14	58605952	58605952	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr14:58605952G>A	ENST00000267485.7	-	2	319	c.125C>T	c.(124-126)gCg>gTg	p.A42V	C14orf37_ENST00000334342.5_5'UTR	NM_001001872.2	NP_001001872.2	Q86TY3	CN037_HUMAN	chromosome 14 open reading frame 37	42						integral to membrane	binding			breast(7)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|skin(1)	33						CCCTTTTTCCGCATGAACATG	0.473													5	401					0	0	1	0	0	A	58605952	G	A	58605952	3	1	482	1	0	0	0	0	1	0	0	0	1777	1087	38	1	2227	1	C14orf37	14	58605952	Missense_Mutation	SNP	G	TCGA-TQ-A7RM-01A-11D-A33T-08		58605952	48743588	64	37182											
KIAA1024	23251	broad.mit.edu	37	15	79750572	79750572	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr15:79750572C>T	ENST00000305428.3	+	2	2158	c.2083C>T	c.(2083-2085)Cgg>Tgg	p.R695W		NM_015206.2	NP_056021.1	Q9UPX6	K1024_HUMAN	KIAA1024	695						integral to membrane		p.R695W(1)		central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						TGAAAGCCTGCGGGTCAAGGC	0.542													5	286					0	0	1	0	0	T	79750572	C	T	79750572	3	4	482	1	0	0	0	0	1	0	0	0	8247	759	27	1	2085	1	KIAA1024	15	79750572	Missense_Mutation	SNP	C	TCGA-TQ-A7RM-01A-11D-A33T-08		79750572	22780820	65	37183											
SV2B	9899	broad.mit.edu	37	15	91769716	91769716	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr15:91769716C>T	ENST00000394232.1	+	2	693	c.223C>T	c.(223-225)Cgg>Tgg	p.R75W	SV2B_ENST00000545111.2_Intron|SV2B_ENST00000557291.1_Intron|SV2B_ENST00000330276.4_Missense_Mutation_p.R75W	NM_014848.4	NP_055663.1	Q7L1I2	SV2B_HUMAN	synaptic vesicle glycoprotein 2B	75					neurotransmitter transport	acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42	Lung NSC(78;0.0987)|all_lung(78;0.172)		BRCA - Breast invasive adenocarcinoma(143;0.0895)			GGACAGCCTTCGGGGCCAGAC	0.587													27	26					0	0	1	0	0	T	91769716	C	T	91769716	3	4	482	1	0	0	0	0	1	0	0	0	15474	875	31	1	225	1	SV2B	15	91769716	Missense_Mutation	SNP	C	TCGA-TQ-A7RM-01A-11D-A33T-08	12019144	91769716	10761676	66	37184											
THOC6	79228	broad.mit.edu	37	16	3075924	3075924	+	Splice_Site	SNP	G	G	C			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr16:3075924G>C	ENST00000326266.8	+	3	451		c.e3-1		THOC6_ENST00000574549.1_Splice_Site|THOC6_ENST00000253952.9_Splice_Site|THOC6_ENST00000575576.1_Splice_Site	NM_024339.3	NP_077315.2	Q86W42	THOC6_HUMAN	THO complex 6 homolog (Drosophila)						intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	RNA binding			central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	13						TGTCCCTGCAGCTTGTCCTCT	0.582													5	254					0	0	1	0	0	C	3075924	G	C	3075924	5	2	482	1	0	0	0	0	0	0	1	0	15929	985	34	4	165	4	THOC6	16	3075924	Splice_Site	SNP	G	TCGA-TQ-A7RM-01A-11D-A33T-08		3075924	87278829	67	37185											
NLRC3	197358	broad.mit.edu	37	16	3614464	3614464	+	RNA	SNP	G	G	A	rs150523532	by1000genomes	TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr16:3614464G>A	ENST00000301749.7	-	0	879				NLRC3_ENST00000448023.2_RNA|NLRC3_ENST00000419350.2_RNA|NLRC3_ENST00000359128.5_RNA|NLRC3_ENST00000603507.1_RNA|NLRC3_ENST00000324659.8_RNA	NM_178844.2	NP_849172.2	Q7RTR2	NLRC3_HUMAN	NLR family, CARD domain containing 3						I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|T cell activation	cytoplasm	ATP binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						AGAGGCGGACGAAGTGCCTCA	0.657													20	67					0	0	1	0	0	A	3614464	G	A	3614464	1	1	482	0	1	0	0	0	0	0	0	0	10515	1049	37	1		1	NLRC3	16	3614464	RNA	SNP	G	TCGA-TQ-A7RM-01A-11D-A33T-08	538540	3614464	86740289	68	37186											
GRIN2A	2903	broad.mit.edu	37	16	9934647	9934647	+	Missense_Mutation	SNP	T	T	G			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr16:9934647T>G	ENST00000396573.2	-	8	1817	c.1508A>C	c.(1507-1509)cAa>cCa	p.Q503P	GRIN2A_ENST00000330684.3_Missense_Mutation_p.Q503P|GRIN2A_ENST00000404927.2_Missense_Mutation_p.Q503P|GRIN2A_ENST00000396575.2_Missense_Mutation_p.Q503P|GRIN2A_ENST00000535259.1_Missense_Mutation_p.Q346P|GRIN2A_ENST00000562109.1_Missense_Mutation_p.Q503P	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	503					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GACTGCCCGTTGATAGACCAC	0.453													21	86					0	0	1	0	0	G	9934647	T	G	9934647	3	3	482	1	0	0	0	0	1	0	0	0	6820	1812	63	5	2914	5	GRIN2A	16	9934647	Missense_Mutation	SNP	T	TCGA-TQ-A7RM-01A-11D-A33T-08	6320183	9934647	80420106	69	37187											
ZNF423	23090	broad.mit.edu	37	16	49672488	49672488	+	Missense_Mutation	SNP	T	T	C			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr16:49672488T>C	ENST00000561648.1	-	4	628	c.575A>G	c.(574-576)aAg>aGg	p.K192R	ZNF423_ENST00000535559.1_Missense_Mutation_p.K75R|ZNF423_ENST00000563137.2_Missense_Mutation_p.K132R|ZNF423_ENST00000262383.2_Missense_Mutation_p.K192R|ZNF423_ENST00000562871.1_Missense_Mutation_p.K132R|ZNF423_ENST00000567169.1_Missense_Mutation_p.K75R|ZNF423_ENST00000562520.1_Missense_Mutation_p.K132R	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	192					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				GTGATACTTCTTGTCGCCCGT	0.587													5	44					0	0	1	0	0	C	49672488	T	C	49672488	3	2	482	1	0	0	0	0	1	0	0	0	17955	1609	56	3	3299	3	ZNF423	16	49672488	Missense_Mutation	SNP	T	TCGA-TQ-A7RM-01A-11D-A33T-08	39737841	49672488	40682265	70	37188											
PABPN1L	390748	broad.mit.edu	37	16	88932977	88932977	+	Frame_Shift_Del	DEL	G	G	-			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr16:88932977delG	ENST00000419291.2	-	1	49	c.38delC	c.(37-39)ccgfs	p.P13fs	PABPN1L_ENST00000427766.1_Frame_Shift_Del_p.P13fs|PABPN1L_ENST00000378358.4_Frame_Shift_Del_p.P13fs|PABPN1L_ENST00000411789.2_Frame_Shift_Del_p.P13fs	NM_001080487.2	NP_001073956.2	A6NDY0	EPAB2_HUMAN	poly(A) binding protein, nuclear 1-like (cytoplasmic)	13						cytoplasm	nucleotide binding|RNA binding			kidney(1)	1						GGCCTGAGTCGGGGGTGGGAA	0.692													2	4	---	---	---	---						-	88932977	G	-	88932977	7	5	482	1	0	1	0	1	0	0	0	0	11416	1116	39	0	858	0	PABPN1L	16	88932977	Frame_Shift_Del	DEL	G	TCGA-TQ-A7RM-01A-11D-A33T-08	39260489	88932977	1421776	71	37189											
TP53	7157	broad.mit.edu	37	17	7578406	7578406	+	Missense_Mutation	SNP	C	C	T	rs28934578		TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr17:7578406C>T	ENST00000420246.2	-	5	656	c.524G>A	c.(523-525)cGc>cAc	p.R175H	TP53_ENST00000359597.4_Missense_Mutation_p.R175H|TP53_ENST00000455263.2_Missense_Mutation_p.R175H|TP53_ENST00000445888.2_Missense_Mutation_p.R175H|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000413465.2_Missense_Mutation_p.R175H|TP53_ENST00000269305.4_Missense_Mutation_p.R175H	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	175	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> C (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; dbSNP:rs28934578).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> 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.R175H(847)|p.R43H(36)|p.R82H(36)|p.R175L(19)|p.0?(8)|p.R175P(6)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*5(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(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)		GTGGGGGCAGCGCCTCACAAC	0.652	R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY)	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)			113	5					0	0	1	0	0	T	7578406	C	T	7578406	3	4	482	1	0	0	0	0	1	0	0	0	16442	768	27	1	774	1	TP53	17	7578406	Missense_Mutation	SNP	C	TCGA-TQ-A7RM-01A-11D-A33T-08		7578406	73616804	72	37190											
MYH8	4626	broad.mit.edu	37	17	10303745	10303745	+	Missense_Mutation	SNP	C	C	A			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr17:10303745C>A	ENST00000403437.2	-	27	3791	c.3697G>T	c.(3697-3699)Gac>Tac	p.D1233Y	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1233					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						CTGCTGAGGTCATCAGTCTCC	0.473									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				83	227					6.64032e-35	7.65218e-35	1	1	0	A	10303745	C	A	10303745	3	1	482	1	0	0	0	0	1	0	0	0	10089	826	29	5	2172	5	MYH8	17	10303745	Missense_Mutation	SNP	C	TCGA-TQ-A7RM-01A-11D-A33T-08	2725339	10303745	70891465	73	37191											
MYH4	4622	broad.mit.edu	37	17	10356568	10356568	+	Missense_Mutation	SNP	C	C	G			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr17:10356568C>G	ENST00000255381.2	-	24	3122	c.3012G>C	c.(3010-3012)caG>caC	p.Q1004H	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1004					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						GGTGGGCCTCCTGGAGAGCCT	0.498													7	534					0	0	1	0	0	G	10356568	C	G	10356568	3	3	482	1	0	0	0	0	1	0	0	0	10085	680	24	4	2875	4	MYH4	17	10356568	Missense_Mutation	SNP	C	TCGA-TQ-A7RM-01A-11D-A33T-08	52823	10356568	70838642	74	37192											
MYO18A	399687	broad.mit.edu	37	17	27493471	27493471	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr17:27493471G>A	ENST00000527372.1	-	2	668	c.488C>T	c.(487-489)cCc>cTc	p.P163L	MYO18A_ENST00000531253.1_Missense_Mutation_p.P163L|MYO18A_ENST00000533112.1_Missense_Mutation_p.P163L|MYO18A_ENST00000354329.4_Missense_Mutation_p.P163L	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	163					anti-apoptosis|DNA metabolic process	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity			NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			CTGTGGCGAGGGGGCGGCAGA	0.627													6	55					0	0	1	0	0	A	27493471	G	A	27493471	3	1	482	1	0	0	0	0	1	0	0	0	10113	1232	43	2	5840	2	MYO18A	17	27493471	Missense_Mutation	SNP	G	TCGA-TQ-A7RM-01A-11D-A33T-08	17136903	27493471	53701739	75	37193											
EPX	8288	broad.mit.edu	37	17	56274334	56274334	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr17:56274334G>A	ENST00000225371.5	+	7	946	c.836G>A	c.(835-837)cGt>cAt	p.R279H		NM_000502.4	NP_000493.1	P11678	PERE_HUMAN	eosinophil peroxidase	279					hydrogen peroxide catabolic process		heme binding|peroxidase activity|protein binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	48						AAGAACCAGCGTGACTGCATC	0.577													41	309					0	0	1	0	0	A	56274334	G	A	56274334	3	1	482	1	0	0	0	0	1	0	0	0	5228	1145	40	1	862	1	EPX	17	56274334	Missense_Mutation	SNP	G	TCGA-TQ-A7RM-01A-11D-A33T-08	28780863	56274334	24920876	76	37194											
KIAA1328	57536	broad.mit.edu	37	18	34465544	34465545	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr18:34465544_34465545delAG	ENST00000591619.1	+	5	1131_1132	c.345_346delAG	c.(343-348)acagagfs	p.E117fs	KIAA1328_ENST00000543923.1_Frame_Shift_Del_p.E13fs|KIAA1328_ENST00000435985.2_5'UTR|KIAA1328_ENST00000280020.5_Frame_Shift_Del_p.E121fs|KIAA1328_ENST00000592521.1_Frame_Shift_Del_p.E121fs			Q86T90	K1328_HUMAN	KIAA1328	121										central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	14				COAD - Colon adenocarcinoma(74;0.195)		AGGAAGTGACAGAGGAAAGACT	0.347													9	7	---	---	---	---						-	34465545	AG	-	34465544	7	5	482	1	0	1	0	1	0	0	0	0	8267	175	7	0	375	0	KIAA1328	18	34465544	Frame_Shift_Del	DEL	AG	TCGA-TQ-A7RM-01A-11D-A33T-08		34465544	43611704	77	37195											
ALPK2	115701	broad.mit.edu	37	18	56202817	56202817	+	Missense_Mutation	SNP	C	C	A			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr18:56202817C>A	ENST00000361673.3	-	5	4815	c.4602G>T	c.(4600-4602)ttG>ttT	p.L1534F	RP11-1151B14.4_ENST00000591360.1_RNA	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	1534							ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						TGGGGGAAATCAATTCTGCTT	0.463													24	124					1.64293e-13	1.82381e-13	1	1	0	A	56202817	C	A	56202817	3	1	482	1	0	0	0	0	1	0	0	0	541	825	29	5	1946	5	ALPK2	18	56202817	Missense_Mutation	SNP	C	TCGA-TQ-A7RM-01A-11D-A33T-08	21737273	56202817	21874431	78	37196											
MALT1	10892	broad.mit.edu	37	18	56367772	56367772	+	Frame_Shift_Del	DEL	T	T	-			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr18:56367772delT	ENST00000348428.3	+	4	856	c.598delT	c.(598-600)ttcfs	p.F200fs	RP11-126O1.4_ENST00000588835.1_RNA|MALT1_ENST00000345724.3_Frame_Shift_Del_p.F200fs	NM_006785.2|NM_173844.1	NP_006776.1|NP_776216.1	Q9UDY8	MALT1_HUMAN	mucosa associated lymphoid tissue lymphoma translocation gene 1	200	Ig-like C2-type 1.				activation of NF-kappaB-inducing kinase activity|anti-apoptosis|nuclear export|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of protein ubiquitination|positive regulation of T cell cytokine production|protein oligomerization|proteolysis|T cell receptor signaling pathway	CBM complex|cytosol|nucleus|perinuclear region of cytoplasm	cysteine-type endopeptidase activity|protein self-association|signal transducer activity|ubiquitin-protein ligase activity			central_nervous_system(1)|large_intestine(7)|lung(1)|ovary(2)|skin(1)	12						CACCTTTGAATTCAGCCAGTG	0.403			T	BIRC3	MALT								23	96	---	---	---	---						-	56367772	T	-	56367772	7	5	482	1	0	1	0	1	0	0	0	0	9252	1493	52	0	612	0	MALT1	18	56367772	Frame_Shift_Del	DEL	T	TCGA-TQ-A7RM-01A-11D-A33T-08	164955	56367772	21709476	79	37197											
ZNF561	93134	broad.mit.edu	37	19	9721559	9721559	+	Missense_Mutation	SNP	T	T	C			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr19:9721559T>C	ENST00000302851.3	-	6	1141	c.778A>G	c.(778-780)Aaa>Gaa	p.K260E	ZNF561_ENST00000326044.5_3'UTR|ZNF561_ENST00000354661.4_Missense_Mutation_p.K124E|ZNF561_ENST00000424629.1_Missense_Mutation_p.K191E	NM_152289.2	NP_689502.2	Q8N587	ZN561_HUMAN	zinc finger protein 561	260					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)	14						GTGAAGGATTTCCCACATTTC	0.368													57	163					0	0	1	0	0	C	9721559	T	C	9721559	3	2	482	1	0	0	0	0	1	0	0	0	18049	1792	62	3	686	3	ZNF561	19	9721559	Missense_Mutation	SNP	T	TCGA-TQ-A7RM-01A-11D-A33T-08		9721559	49407424	80	37198											
ZNF676	163223	broad.mit.edu	37	19	22363970	22363970	+	Silent	SNP	G	G	T			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr19:22363970G>T	ENST00000397121.2	-	3	866	c.549C>A	c.(547-549)acC>acA	p.T183T		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	183				TLTYYKSI -> NLMEHKRV (in Ref. 2; BAC05174).	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				AATAAGTAAGGGTTGAGGACC	0.348													23	148					2.98393e-07	3.22371e-07	1	1	0	T	22363970	G	T	22363970	2	4	482	1	0	0	0	0	0	0	0	1	18140	1219	43	5		5	ZNF676	19	22363970	Silent	SNP	G	TCGA-TQ-A7RM-01A-11D-A33T-08	12642411	22363970	36765013	81	37199											
GPATCH1	55094	broad.mit.edu	37	19	33581715	33581715	+	Nonsense_Mutation	SNP	C	C	T	rs144223467	byFrequency	TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr19:33581715C>T	ENST00000170564.2	+	3	552	c.238C>T	c.(238-240)Cga>Tga	p.R80*		NM_018025.2	NP_060495.2	Q9BRR8	GPTC1_HUMAN	G patch domain containing 1	80						catalytic step 2 spliceosome	nucleic acid binding			breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|prostate(4)|skin(4)	40	Esophageal squamous(110;0.137)					TGTGTCTTCACGACAGAACAG	0.388													4	273					0	0	1	0	0	T	33581715	C	T	33581715	4	4	482	1	0	0	0	0	0	1	0	0	6630	528	19	1	248	1	GPATCH1	19	33581715	Nonsense_Mutation	SNP	C	TCGA-TQ-A7RM-01A-11D-A33T-08	11217745	33581715	25547268	82	37200											
ZNF701	55762	broad.mit.edu	37	19	53086322	53086322	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr19:53086322G>A	ENST00000540331.1	+	5	1433	c.1208G>A	c.(1207-1209)cGc>cAc	p.R403H	CTD-3099C6.7_ENST00000599222.1_RNA|ZNF701_ENST00000391785.3_Missense_Mutation_p.R337H|ZNF701_ENST00000301093.2_Missense_Mutation_p.R403H	NM_001172655.1	NP_001166126.1	Q9NV72	ZN701_HUMAN	zinc finger protein 701	337					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(2)|lung(6)	14				OV - Ovarian serous cystadenocarcinoma(262;0.0105)|GBM - Glioblastoma multiforme(134;0.0402)		GTTTTCAGTCGCAAATCACAC	0.398													5	207					0	0	1	0	0	A	53086322	G	A	53086322	3	1	482	1	0	0	0	0	1	0	0	0	18161	1087	38	1	1222	1	ZNF701	19	53086322	Missense_Mutation	SNP	G	TCGA-TQ-A7RM-01A-11D-A33T-08	19504607	53086322	6042661	83	37201											
RS1	6247	broad.mit.edu	37	X	18660259	18660259	+	Silent	SNP	C	C	T			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chrX:18660259C>T	ENST00000379984.3	-	6	580	c.540G>A	c.(538-540)tcG>tcA	p.S180S	CDKL5_ENST00000379989.3_Intron|CDKL5_ENST00000379996.3_Intron|RS1_ENST00000476595.1_5'UTR	NM_000330.3	NP_000321.1	O15537	XLRS1_HUMAN	retinoschisin 1	180	F5/8 type C.				cell adhesion|multicellular organismal development|response to stimulus|visual perception	extracellular space				cervix(1)|endometrium(4)|large_intestine(5)|lung(2)|ovary(2)|skin(1)	15	Hepatocellular(33;0.183)					AGGTGCGGTCCGAGTTGCCAT	0.587													44	144					0	0	1	0	0	T	18660259	C	T	18660259	2	4	482	1	0	0	0	0	0	0	0	1	13745	639	23	1		1	RS1	23	18660259	Silent	SNP	C	TCGA-TQ-A7RM-01A-11D-A33T-08		18660259	136610301	84	37202											
CASK	8573	broad.mit.edu	37	X	41383253	41383253	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chrX:41383253G>A	ENST00000318588.9	-	26	2585	c.2540C>T	c.(2539-2541)cCt>cTt	p.P847L	CASK_ENST00000442742.2_Missense_Mutation_p.P824L|CASK_ENST00000361962.4_Missense_Mutation_p.P835L|CASK_ENST00000421587.2_Missense_Mutation_p.P823L|CASK_ENST00000378163.1_Missense_Mutation_p.P852L|CASK_ENST00000378166.4_Missense_Mutation_p.P847L|CASK_ENST00000378158.1_Missense_Mutation_p.P835L			O14936	CSKP_HUMAN	calcium/calmodulin-dependent serine protein kinase (MAGUK family)	852	Guanylate kinase-like.				cell adhesion	actin cytoskeleton|cytoplasm|nucleus|plasma membrane	ATP binding|calmodulin binding|guanylate kinase activity|protein serine/threonine kinase activity			breast(3)|endometrium(5)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|ovary(3)|prostate(1)|stomach(1)	32						AACAACAAAAGGAGCAAACTC	0.353													3	84					0	0	1	0	0	A	41383253	G	A	41383253	3	1	482	1	0	0	0	0	1	0	0	0	2683	1000	35	2	233	2	CASK	23	41383253	Missense_Mutation	SNP	G	TCGA-TQ-A7RM-01A-11D-A33T-08	22722994	41383253	113887307	85	37203											
SLC9A7	84679	broad.mit.edu	37	X	46531996	46531996	+	Missense_Mutation	SNP	A	A	G			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chrX:46531996A>G	ENST00000328306.4	-	4	695	c.670T>C	c.(670-672)Ttc>Ctc	p.F224L		NM_001257291.1|NM_032591.2	NP_001244220.1|NP_115980.1	Q96T83	SL9A7_HUMAN	solute carrier family 9, subfamily A (NHE7, cation proton antiporter 7), member 7	224					regulation of pH	Golgi membrane|integral to membrane|recycling endosome membrane|trans-Golgi network	potassium:hydrogen antiporter activity|protein homodimerization activity|sodium:hydrogen antiporter activity			breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)|skin(1)	21						CCAATAATGAAGCATGAAACA	0.383													77	101					0	0	1	0	0	G	46531996	A	G	46531996	3	3	482	1	0	0	0	0	1	0	0	0	14774	72	3	3	1563	3	SLC9A7	23	46531996	Missense_Mutation	SNP	A	TCGA-TQ-A7RM-01A-11D-A33T-08	5148743	46531996	108738564	86	37204											
CLCN5	1184	broad.mit.edu	37	X	49851213	49851213	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chrX:49851213C>T	ENST00000376088.3	+	11	1884	c.1243C>T	c.(1243-1245)Cgg>Tgg	p.R415W	CLCN5_ENST00000376108.3_Missense_Mutation_p.R345W|CLCN5_ENST00000307367.2_Missense_Mutation_p.R345W|CLCN5_ENST00000376091.3_Missense_Mutation_p.R415W	NM_001127898.1|NM_001127899.1	NP_001121370.1|NP_001121371.1	P51795	CLCN5_HUMAN	chloride channel, voltage-sensitive 5	345					excretion	apical part of cell|endosome membrane|Golgi membrane|integral to plasma membrane	antiporter activity|ATP binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)	30	Ovarian(276;0.236)					TGCCTGGTGTCGGAAGCGAAA	0.522													68	81					0	0	1	0	0	T	49851213	C	T	49851213	3	4	482	1	0	0	0	0	1	0	0	0	3489	875	31	1	1277	1	CLCN5	23	49851213	Missense_Mutation	SNP	C	TCGA-TQ-A7RM-01A-11D-A33T-08	3319217	49851213	105419347	87	37205											
ZC3H12B	340554	broad.mit.edu	37	X	64722740	64722740	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chrX:64722740C>T	ENST00000338957.4	+	5	2229	c.2162C>T	c.(2161-2163)cCc>cTc	p.P721L	ZC3H12B_ENST00000423889.3_Missense_Mutation_p.P710L	NM_001010888.3	NP_001010888.3	Q5HYM0	ZC12B_HUMAN	zinc finger CCCH-type containing 12B	710							endonuclease activity|nucleic acid binding|zinc ion binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						AGACGACCTCCCCTGTGCCGG	0.602													47	49					0	0	1	0	0	T	64722740	C	T	64722740	3	4	482	1	0	0	0	0	1	0	0	0	17621	623	22	2	2180	2	ZC3H12B	23	64722740	Missense_Mutation	SNP	C	TCGA-TQ-A7RM-01A-11D-A33T-08	14871527	64722740	90547820	88	37206											
BRWD3	254065	broad.mit.edu	37	X	79932815	79932815	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chrX:79932815G>A	ENST00000373275.4	-	41	4918	c.4702C>T	c.(4702-4704)Cgg>Tgg	p.R1568W	BRWD3_ENST00000473691.1_5'UTR	NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	1568										breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						ATTCCTGTCCGGGGCTCTCTG	0.358													68	81					0	0	1	0	0	A	79932815	G	A	79932815	3	1	482	1	0	0	0	0	1	0	0	0	1528	1115	39	1	710	1	BRWD3	23	79932815	Missense_Mutation	SNP	G	TCGA-TQ-A7RM-01A-11D-A33T-08	15210075	79932815	75337745	89	37207											
PABPC5	140886	broad.mit.edu	37	X	90691183	90691183	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chrX:90691183G>A	ENST00000312600.3	+	2	821	c.607G>A	c.(607-609)Gtt>Att	p.V203I	PABPC5_ENST00000373105.1_Missense_Mutation_p.V39I	NM_080832.2	NP_543022.1	Q96DU9	PABP5_HUMAN	poly(A) binding protein, cytoplasmic 5	203	RRM 3.					cytoplasm	nucleotide binding|RNA binding	p.V203I(2)		central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(1)|pancreas(1)	42						CAATGTTTTCGTTAAAAACAT	0.448													6	127					0	0	1	0	0	A	90691183	G	A	90691183	3	1	482	1	0	0	0	0	1	0	0	0	11414	1145	40	1	609	1	PABPC5	23	90691183	Missense_Mutation	SNP	G	TCGA-TQ-A7RM-01A-11D-A33T-08	10758368	90691183	64579377	90	37208											
CHRDL1	91851	broad.mit.edu	37	X	109937508	109937508	+	Nonsense_Mutation	SNP	C	C	A			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chrX:109937508C>A	ENST00000218054.4	-	8	854	c.658G>T	c.(658-660)Gga>Tga	p.G220*	CHRDL1_ENST00000444321.2_Nonsense_Mutation_p.G220*|CHRDL1_ENST00000394797.4_Nonsense_Mutation_p.G220*|CHRDL1_ENST00000372042.1_Nonsense_Mutation_p.G221*|CHRDL1_ENST00000372045.1_Nonsense_Mutation_p.G214*|CHRDL1_ENST00000434224.1_Nonsense_Mutation_p.G141*|CHRDL1_ENST00000482160.1_Nonsense_Mutation_p.G141*	NM_001143981.1|NM_001143982.1|NM_145234.3	NP_001137453.1|NP_001137454.1|NP_660277.2	Q9BU40	CRDL1_HUMAN	chordin-like 1	214					BMP signaling pathway|cell differentiation|nervous system development|ossification	extracellular region				endometrium(1)|large_intestine(12)|liver(1)|lung(15)|prostate(1)|skin(1)	31						GACAGACCTCCAGCCTGTCGG	0.473													53	181					9.55421e-19	1.07042e-18	1	1	0	A	109937508	C	A	109937508	4	1	482	1	0	0	0	0	0	1	0	0	3395	603	21	5	735	5	CHRDL1	23	109937508	Nonsense_Mutation	SNP	C	TCGA-TQ-A7RM-01A-11D-A33T-08	19246325	109937508	45333052	91	37209											
XPNPEP2	7512	broad.mit.edu	37	X	128879233	128879233	+	Missense_Mutation	SNP	G	G	T			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chrX:128879233G>T	ENST00000371106.3	+	4	481	c.289G>T	c.(289-291)Ggg>Tgg	p.G97W	XPNPEP2_ENST00000371105.3_Missense_Mutation_p.G97W	NM_003399.5	NP_003390.4	O43895	XPP2_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 2, membrane-bound	97					cellular process|proteolysis	anchored to membrane|plasma membrane	aminopeptidase activity|metal ion binding|metalloexopeptidase activity			endometrium(3)|kidney(3)|large_intestine(5)|liver(1)|lung(20)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	37						AGGCTTTACAGGGTCTGCAGG	0.493													3	78					0.004672	0.00479078	1	1	0	T	128879233	G	T	128879233	3	4	482	1	0	0	0	0	1	0	0	0	17503	1000	35	4	303	4	XPNPEP2	23	128879233	Missense_Mutation	SNP	G	TCGA-TQ-A7RM-01A-11D-A33T-08	18941725	128879233	26391327	92	37210											
ENOX2	10495	broad.mit.edu	37	X	129843238	129843238	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chrX:129843238C>T	ENST00000338144.3	-	4	445	c.28G>A	c.(28-30)Gtc>Atc	p.V10I	ENOX2_ENST00000370927.1_Missense_Mutation_p.V10I|ENOX2_ENST00000492263.1_5'UTR|ENOX2_ENST00000394363.1_Intron|ENOX2_ENST00000370935.1_Intron	NM_182314.1	NP_872114.1	Q16206	ENOX2_HUMAN	ecto-NOX disulfide-thiol exchanger 2	10					cell growth|electron transport chain|regulation of growth|transport|ultradian rhythm	cytosol|external side of plasma membrane|extracellular space	nucleic acid binding|nucleotide binding|protein disulfide oxidoreductase activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(3)	33						ATTTCGTAGACCCACAGCCAT	0.423													26	147					0	0	1	0	0	T	129843238	C	T	129843238	3	4	482	1	0	0	0	0	1	0	0	0	5155	507	18	2	1856	2	ENOX2	23	129843238	Missense_Mutation	SNP	C	TCGA-TQ-A7RM-01A-11D-A33T-08	964005	129843238	25427322	93	37211											
SPANXC	64663	broad.mit.edu	37	X	140336553	140336553	+	Missense_Mutation	SNP	C	C	G			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chrX:140336553C>G	ENST00000358993.2	-	1	76	c.38G>C	c.(37-39)aGc>aCc	p.S13T		NM_022661.2	NP_073152.1	Q9NY87	SPNXC_HUMAN	SPANX family, member C	13						cytoplasm|nucleus				large_intestine(2)|lung(3)|pancreas(1)	6	Acute lymphoblastic leukemia(192;7.65e-05)					ACAGGGGACGCTCCTCTTCAC	0.507													5	230					0	0	1	0	0	G	140336553	C	G	140336553	3	3	482	1	0	0	0	0	1	0	0	0	15043	797	28	4	263	4	SPANXC	23	140336553	Missense_Mutation	SNP	C	TCGA-TQ-A7RM-01A-11D-A33T-08	10493315	140336553	14934007	94	37212											
CLK2	1196	broad.mit.edu	37	1	155240701	155240701	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RN-01A-11D-A33T-08	TCGA-TQ-A7RN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	329cf5be-2d8c-4863-924b-48ea7f91a1f5	996f3527-e21e-498e-a938-8bb6f4ea35a7	g.chr1:155240701C>T	ENST00000368361.4	-	2	383	c.68G>A	c.(67-69)cGg>cAg	p.R23Q	CLK2_ENST00000536801.1_Missense_Mutation_p.R23Q|CLK2_ENST00000355560.4_Missense_Mutation_p.R23Q|CLK2_ENST00000361168.5_Missense_Mutation_p.R23Q			P49760	CLK2_HUMAN	CDC-like kinase 2	23						nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			endometrium(4)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	22	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			CTTTCGGCTCCGATAGTGTTC	0.572								Other conserved DNA damage response genes					7	137					0	0	1	0	0	T	155240701	C	T	155240701	3	4	483	1	0	0	0	0	1	0	0	0	3560	652	23	1	1476	1	CLK2	1	155240701	Missense_Mutation	SNP	C	TCGA-TQ-A7RN-01A-11D-A33T-08		155240701	94009920	1	37213											
NEB	4703	broad.mit.edu	37	2	152420364	152420364	+	Silent	SNP	G	G	A			TCGA-TQ-A7RN-01A-11D-A33T-08	TCGA-TQ-A7RN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	329cf5be-2d8c-4863-924b-48ea7f91a1f5	996f3527-e21e-498e-a938-8bb6f4ea35a7	g.chr2:152420364G>A	ENST00000427231.2	-	118	18754	c.18552C>T	c.(18550-18552)gcC>gcT	p.A6184A	NEB_ENST00000397345.3_Silent_p.A6184A|NEB_ENST00000409198.1_Silent_p.A4483A|NEB_ENST00000604864.1_Silent_p.A6184A|NEB_ENST00000603639.1_Silent_p.A6184A|NEB_ENST00000172853.10_Silent_p.A4483A	NM_001164507.1|NM_001271208.1	NP_001157979|NP_001258137.1	P20929	NEBU_HUMAN	nebulin	6173					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CAGCATGCTTGGCTCCAACAA	0.488													17	27					0	0	1	0	0	A	152420364	G	A	152420364	2	1	483	1	0	0	0	0	0	0	0	1	10349	1335	47	2		2	NEB	2	152420364	Silent	SNP	G	TCGA-TQ-A7RN-01A-11D-A33T-08		152420364	90779009	2	37214											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-TQ-A7RN-01A-11D-A33T-08	TCGA-TQ-A7RN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	329cf5be-2d8c-4863-924b-48ea7f91a1f5	996f3527-e21e-498e-a938-8bb6f4ea35a7	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								58	92					0	0	1	0	0	T	209113112	C	T	209113112	3	4	483	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-TQ-A7RN-01A-11D-A33T-08	56692748	209113112	34086261	3	37215											
TRIP12	9320	broad.mit.edu	37	2	230633990	230633990	+	Missense_Mutation	SNP	G	G	C			TCGA-TQ-A7RN-01A-11D-A33T-08	TCGA-TQ-A7RN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	329cf5be-2d8c-4863-924b-48ea7f91a1f5	996f3527-e21e-498e-a938-8bb6f4ea35a7	g.chr2:230633990G>C	ENST00000283943.5	-	39	5813	c.5635C>G	c.(5635-5637)Ctg>Gtg	p.L1879V	TRIP12_ENST00000389045.3_Missense_Mutation_p.L1609V|TRIP12_ENST00000389044.4_Missense_Mutation_p.L1927V	NM_001284214.1|NM_004238.1	NP_001271143.1|NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	1879					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		CATTCCATCAGTGTCTTTGCA	0.423													4	310					0	0	1	0	0	C	230633990	G	C	230633990	3	2	483	1	0	0	0	0	1	0	0	0	16617	1020	36	4	355	4	TRIP12	2	230633990	Missense_Mutation	SNP	G	TCGA-TQ-A7RN-01A-11D-A33T-08	21520878	230633990	12565383	4	37216											
CNTN6	27255	broad.mit.edu	37	3	1415355	1415355	+	Missense_Mutation	SNP	G	G	C			TCGA-TQ-A7RN-01A-11D-A33T-08	TCGA-TQ-A7RN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	329cf5be-2d8c-4863-924b-48ea7f91a1f5	996f3527-e21e-498e-a938-8bb6f4ea35a7	g.chr3:1415355G>C	ENST00000446702.2	+	15	2481	c.1854G>C	c.(1852-1854)tgG>tgC	p.W618C	CNTN6_ENST00000350110.2_Missense_Mutation_p.W618C|CNTN6_ENST00000539053.1_Missense_Mutation_p.W546C			Q9UQ52	CNTN6_HUMAN	contactin 6	618	Fibronectin type-III 1.				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		AACTAAGTTGGAGAGCAGGCC	0.443													10	147					0	0	1	0	0	C	1415355	G	C	1415355	3	2	483	1	0	0	0	0	1	0	0	0	3668	1183	41	5	1908	5	CNTN6	3	1415355	Missense_Mutation	SNP	G	TCGA-TQ-A7RN-01A-11D-A33T-08		1415355	196607075	5	37217											
RFTN1	23180	broad.mit.edu	37	3	16475544	16475544	+	Splice_Site	SNP	G	G	A			TCGA-TQ-A7RN-01A-11D-A33T-08	TCGA-TQ-A7RN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	329cf5be-2d8c-4863-924b-48ea7f91a1f5	996f3527-e21e-498e-a938-8bb6f4ea35a7	g.chr3:16475544G>A	ENST00000334133.4	-	3	418	c.146C>T	c.(145-147)gCg>gTg	p.A49V	RFTN1_ENST00000432519.1_Splice_Site_p.A13V	NM_015150.1	NP_055965.1	Q14699	RFTN1_HUMAN	raftlin, lipid raft linker 1	49						plasma membrane				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	38						AGGGAGCTCCGCTGGAGTGGA	0.662													7	48					0	0	1	0	0	A	16475544	G	A	16475544	5	1	483	1	0	0	0	0	0	0	1	0	13310	1101	38	1	1622	1	RFTN1	3	16475544	Splice_Site	SNP	G	TCGA-TQ-A7RN-01A-11D-A33T-08	15060189	16475544	181546886	6	37218											
GADL1	339896	broad.mit.edu	37	3	30842415	30842415	+	Missense_Mutation	SNP	C	C	G			TCGA-TQ-A7RN-01A-11D-A33T-08	TCGA-TQ-A7RN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	329cf5be-2d8c-4863-924b-48ea7f91a1f5	996f3527-e21e-498e-a938-8bb6f4ea35a7	g.chr3:30842415C>G	ENST00000454381.3	-	12	1262	c.1216G>C	c.(1216-1218)Gaa>Caa	p.E406Q	GADL1_ENST00000282538.5_Missense_Mutation_p.E406Q			Q6ZQY3	GADL1_HUMAN	glutamate decarboxylase-like 1	406					carboxylic acid metabolic process		carboxy-lyase activity|pyridoxal phosphate binding			breast(2)|endometrium(3)|kidney(2)|lung(17)|upper_aerodigestive_tract(1)	25					Pyridoxal Phosphate(DB00114)	ACTCTTTCTTCAAGGCCTAAT	0.468													51	87					0	0	1	0	0	G	30842415	C	G	30842415	3	3	483	1	0	0	0	0	1	0	0	0	6220	835	29	5	365	5	GADL1	3	30842415	Missense_Mutation	SNP	C	TCGA-TQ-A7RN-01A-11D-A33T-08	14366871	30842415	167180015	7	37219											
NEK11	79858	broad.mit.edu	37	3	130992408	130992408	+	Missense_Mutation	SNP	C	C	T	rs144676044	byFrequency	TCGA-TQ-A7RN-01A-11D-A33T-08	TCGA-TQ-A7RN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	329cf5be-2d8c-4863-924b-48ea7f91a1f5	996f3527-e21e-498e-a938-8bb6f4ea35a7	g.chr3:130992408C>T	ENST00000383366.4	+	17	2001	c.1708C>T	c.(1708-1710)Cgc>Tgc	p.R570C	NEK11_ENST00000510769.1_Missense_Mutation_p.R465C|NEK11_ENST00000508196.1_Missense_Mutation_p.R570C|NEK11_ENST00000510688.1_Intron|NEK11_ENST00000429253.2_Missense_Mutation_p.R570C|NEK11_ENST00000412440.2_Missense_Mutation_p.R386C	NM_024800.4	NP_079076.3	Q8NG66	NEK11_HUMAN	NIMA-related kinase 11	570					cell cycle|intra-S DNA damage checkpoint|intracellular protein kinase cascade	nucleolus	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|stomach(1)|urinary_tract(2)	33						CAAGATGAAACGCATGAGGGA	0.478													27	46					0	0	1	0	0	T	130992408	C	T	130992408	3	4	483	1	0	0	0	0	1	0	0	0	10370	536	19	1	1784	1	NEK11	3	130992408	Missense_Mutation	SNP	C	TCGA-TQ-A7RN-01A-11D-A33T-08	100149993	130992408	67030022	8	37220											
SLCO2A1	6578	broad.mit.edu	37	3	133670117	133670117	+	Missense_Mutation	SNP	C	C	A			TCGA-TQ-A7RN-01A-11D-A33T-08	TCGA-TQ-A7RN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	329cf5be-2d8c-4863-924b-48ea7f91a1f5	996f3527-e21e-498e-a938-8bb6f4ea35a7	g.chr3:133670117C>A	ENST00000310926.4	-	6	1069	c.796G>T	c.(796-798)Gct>Tct	p.A266S	SLCO2A1_ENST00000493729.1_Missense_Mutation_p.A190S	NM_005630.2	NP_005621.2	Q92959	SO2A1_HUMAN	solute carrier organic anion transporter family, member 2A1	266					sodium-independent organic anion transport	integral to plasma membrane|membrane fraction	prostaglandin transmembrane transporter activity|protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2)	30						ACCAATAAAGCTGAAGAAATG	0.498													69	78					3.07184e-27	3.07184e-27	1	1	0	A	133670117	C	A	133670117	3	1	483	1	0	0	0	0	1	0	0	0	14781	797	28	4	1171	4	SLCO2A1	3	133670117	Missense_Mutation	SNP	C	TCGA-TQ-A7RN-01A-11D-A33T-08	2677709	133670117	64352313	9	37221											
MAN2B2	23324	broad.mit.edu	37	4	6578375	6578375	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RN-01A-11D-A33T-08	TCGA-TQ-A7RN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	329cf5be-2d8c-4863-924b-48ea7f91a1f5	996f3527-e21e-498e-a938-8bb6f4ea35a7	g.chr4:6578375G>A	ENST00000285599.3	+	2	245	c.209G>A	c.(208-210)cGc>cAc	p.R70H	MAN2B2_ENST00000504248.1_Missense_Mutation_p.R70H	NM_015274.1	NP_056089.1	Q9Y2E5	MA2B2_HUMAN	mannosidase, alpha, class 2B, member 2	70					mannose metabolic process	extracellular region	alpha-mannosidase activity|carbohydrate binding|zinc ion binding	p.R70L(1)		breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	30						GGCCAGCAGCGCCGGTTCATC	0.627													48	172					0	0	1	0	0	A	6578375	G	A	6578375	3	1	483	1	0	0	0	0	1	0	0	0	9267	1087	38	1	215	1	MAN2B2	4	6578375	Missense_Mutation	SNP	G	TCGA-TQ-A7RN-01A-11D-A33T-08		6578375	184575901	10	37222											
REST	5978	broad.mit.edu	37	4	57796227	57796227	+	Silent	SNP	G	G	A			TCGA-TQ-A7RN-01A-11D-A33T-08	TCGA-TQ-A7RN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	329cf5be-2d8c-4863-924b-48ea7f91a1f5	996f3527-e21e-498e-a938-8bb6f4ea35a7	g.chr4:57796227G>A	ENST00000309042.7	+	4	1517	c.1203G>A	c.(1201-1203)aaG>aaA	p.K401K		NM_001193508.1|NM_005612.4	NP_001180437.1|NP_005603.3	Q13127	REST_HUMAN	RE1-silencing transcription factor	401	Lys-rich.				cardiac muscle cell myoblast differentiation|cellular response to drug|cellular response to electrical stimulus|cellular response to glucocorticoid stimulus|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of aldosterone biosynthetic process|negative regulation of calcium ion-dependent exocytosis|negative regulation of cell proliferation|negative regulation of cortisol biosynthetic process|negative regulation of dense core granule biogenesis|negative regulation of insulin secretion|negative regulation of mesenchymal stem cell differentiation|negative regulation of neurogenesis|negative regulation of neuron differentiation|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of transcription, DNA-dependent	cytoplasm|transcriptional repressor complex	calcium channel activity|chromatin binding|core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|outward rectifier potassium channel activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|zinc ion binding			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	50	Glioma(25;0.08)|all_neural(26;0.181)					CTTCCAAGAAGTGTAATCTAC	0.378													13	420					0	0	1	0	0	A	57796227	G	A	57796227	2	1	483	1	0	0	0	0	0	0	0	1	13286	1020	36	2		2	REST	4	57796227	Silent	SNP	G	TCGA-TQ-A7RN-01A-11D-A33T-08	51217852	57796227	133358049	11	37223											
UGT2A3	79799	broad.mit.edu	37	4	69796351	69796351	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RN-01A-11D-A33T-08	TCGA-TQ-A7RN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	329cf5be-2d8c-4863-924b-48ea7f91a1f5	996f3527-e21e-498e-a938-8bb6f4ea35a7	g.chr4:69796351G>A	ENST00000251566.4	-	5	1247	c.1217C>T	c.(1216-1218)gCc>gTc	p.A406V	UGT2A3_ENST00000420231.2_Missense_Mutation_p.A117V	NM_024743.3	NP_079019.3	Q6UWM9	UD2A3_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A3	406						integral to membrane	glucuronosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						TGCTCCTTTGGCCTTCATGTG	0.428													26	305					0	0	1	0	0	A	69796351	G	A	69796351	3	1	483	1	0	0	0	0	1	0	0	0	17015	1203	42	2	374	2	UGT2A3	4	69796351	Missense_Mutation	SNP	G	TCGA-TQ-A7RN-01A-11D-A33T-08	12000124	69796351	121357925	12	37224											
GK2	2712	broad.mit.edu	37	4	80329160	80329160	+	Silent	SNP	G	G	A			TCGA-TQ-A7RN-01A-11D-A33T-08	TCGA-TQ-A7RN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	329cf5be-2d8c-4863-924b-48ea7f91a1f5	996f3527-e21e-498e-a938-8bb6f4ea35a7	g.chr4:80329160G>A	ENST00000358842.3	-	1	212	c.195C>T	c.(193-195)taC>taT	p.Y65Y		NM_033214.2	NP_149991.2	Q14410	GLPK2_HUMAN	glycerol kinase 2	65					glycerol-3-phosphate metabolic process	mitochondrial outer membrane	ATP binding|glycerol kinase activity	p.Y65Y(1)		autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	39						CTATACACTCGTAGACAGACT	0.408													7	336					0	0	1	0	0	A	80329160	G	A	80329160	2	1	483	1	0	0	0	0	0	0	0	1	6463	1140	40	1		1	GK2	4	80329160	Silent	SNP	G	TCGA-TQ-A7RN-01A-11D-A33T-08	10532809	80329160	110825116	13	37225											
GPR98	84059	broad.mit.edu	37	5	89949350	89949350	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RN-01A-11D-A33T-08	TCGA-TQ-A7RN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	329cf5be-2d8c-4863-924b-48ea7f91a1f5	996f3527-e21e-498e-a938-8bb6f4ea35a7	g.chr5:89949350G>A	ENST00000405460.2	+	20	4055	c.3959G>A	c.(3958-3960)cGt>cAt	p.R1320H		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	1320				R -> G (in Ref. 2; AAL30811).	cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		CACATGCGGCGTCACCACAGT	0.463													33	61					0	0	1	0	0	A	89949350	G	A	89949350	3	1	483	1	0	0	0	0	1	0	0	0	6762	1145	40	1	4037	1	GPR98	5	89949350	Missense_Mutation	SNP	G	TCGA-TQ-A7RN-01A-11D-A33T-08		89949350	90965910	14	37226											
MEGF10	84466	broad.mit.edu	37	5	126758455	126758455	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RN-01A-11D-A33T-08	TCGA-TQ-A7RN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	329cf5be-2d8c-4863-924b-48ea7f91a1f5	996f3527-e21e-498e-a938-8bb6f4ea35a7	g.chr5:126758455G>A	ENST00000274473.6	+	14	1951	c.1684G>A	c.(1684-1686)Gga>Aga	p.G562R	MEGF10_ENST00000418761.2_Missense_Mutation_p.G562R|MEGF10_ENST00000508365.1_Missense_Mutation_p.G562R|MEGF10_ENST00000503335.2_Missense_Mutation_p.G562R	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10	562	EGF-like 10.|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)		CTGCCTCCCCGGATGGTCAGG	0.572													28	32					0	0	1	0	0	A	126758455	G	A	126758455	3	1	483	1	0	0	0	0	1	0	0	0	9510	1117	39	1	1730	1	MEGF10	5	126758455	Missense_Mutation	SNP	G	TCGA-TQ-A7RN-01A-11D-A33T-08	36809105	126758455	54156805	15	37227											
TFAP2A	7020	broad.mit.edu	37	6	10398786	10398786	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RN-01A-11D-A33T-08	TCGA-TQ-A7RN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	329cf5be-2d8c-4863-924b-48ea7f91a1f5	996f3527-e21e-498e-a938-8bb6f4ea35a7	g.chr6:10398786G>A	ENST00000379613.3	-	7	1440	c.1184C>T	c.(1183-1185)gCc>gTc	p.A395V	TFAP2A_ENST00000482890.1_Missense_Mutation_p.A393V|TFAP2A_ENST00000379604.2_Missense_Mutation_p.A393V|TFAP2A_ENST00000379608.3_Missense_Mutation_p.A387V|TFAP2A_ENST00000319516.4_Missense_Mutation_p.A389V			P05549	AP2A_HUMAN	transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)	393	H-S-H (helix-span-helix), dimerization.				ectoderm development|positive regulation of bone mineralization|positive regulation of tooth mineralization|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	centrosome|Golgi apparatus|nucleus	chromatin binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding			breast(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	13	Breast(50;0.0427)|Ovarian(93;0.0991)	all_hematologic(90;0.107)				CGTGACCGCGGCACACACCGC	0.627													5	625					0	0	1	0	0	A	10398786	G	A	10398786	3	1	483	1	0	0	0	0	1	0	0	0	15847	1203	42	2	139	2	TFAP2A	6	10398786	Missense_Mutation	SNP	G	TCGA-TQ-A7RN-01A-11D-A33T-08		10398786	160716281	16	37228											
HLA-DQA1	3117	broad.mit.edu	37	6	32609784	32609784	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RN-01A-11D-A33T-08	TCGA-TQ-A7RN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	329cf5be-2d8c-4863-924b-48ea7f91a1f5	996f3527-e21e-498e-a938-8bb6f4ea35a7	g.chr6:32609784G>A	ENST00000343139.5	+	3	469	c.367G>A	c.(367-369)Gtg>Atg	p.V123M	HLA-DQA1_ENST00000374949.2_Missense_Mutation_p.V123M|HLA-DQA1_ENST00000395363.1_Missense_Mutation_p.V123M	NM_002122.3	NP_002113.2	P01909	DQA1_HUMAN	major histocompatibility complex, class II, DQ alpha 1	122	Alpha-2.|Ig-like C1-type.				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|endosome membrane|Golgi apparatus|integral to plasma membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity			NS(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6						CAAGTCTCCCGTGACACTGGG	0.502													16	81					0	0	1	0	0	A	32609784	G	A	32609784	3	1	483	1	0	0	0	0	1	0	0	0	7245	1145	40	1	377	1	HLA-DQA1	6	32609784	Missense_Mutation	SNP	G	TCGA-TQ-A7RN-01A-11D-A33T-08	22210998	32609784	138505283	17	37229											
RUNX2	860	broad.mit.edu	37	6	45390463	45390463	+	Silent	SNP	G	G	A			TCGA-TQ-A7RN-01A-11D-A33T-08	TCGA-TQ-A7RN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	329cf5be-2d8c-4863-924b-48ea7f91a1f5	996f3527-e21e-498e-a938-8bb6f4ea35a7	g.chr6:45390463G>A	ENST00000371438.1	+	2	550	c.192G>A	c.(190-192)caG>caA	p.Q64Q	RUNX2_ENST00000371436.6_Silent_p.Q64Q|RUNX2_ENST00000541979.1_Silent_p.Q132Q|RUNX2_ENST00000371432.3_Silent_p.Q50Q|RUNX2_ENST00000465038.2_Silent_p.Q64Q|RUNX2_ENST00000359524.5_Silent_p.Q50Q|RUNX2_ENST00000576263.1_Silent_p.Q64Q|RUNX2_ENST00000352853.5_Silent_p.Q132Q	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	64	Poly-Gln.				negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						agcagcagcagcaacagcagc	0.736													5	72					0	0	1	0	0	A	45390463	G	A	45390463	2	1	483	1	0	0	0	0	0	0	0	1	13800	962	34	2		2	RUNX2	6	45390463	Silent	SNP	G	TCGA-TQ-A7RN-01A-11D-A33T-08	12780679	45390463	125724604	18	37230											
FBXO30	84085	broad.mit.edu	37	6	146125579	146125579	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RN-01A-11D-A33T-08	TCGA-TQ-A7RN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	329cf5be-2d8c-4863-924b-48ea7f91a1f5	996f3527-e21e-498e-a938-8bb6f4ea35a7	g.chr6:146125579C>T	ENST00000237281.4	-	2	2129	c.1963G>A	c.(1963-1965)Ggc>Agc	p.G655S		NM_032145.4	NP_115521.3	Q8TB52	FBX30_HUMAN	F-box protein 30	655							ubiquitin-protein ligase activity|zinc ion binding			NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26		Ovarian(120;0.0776)		OV - Ovarian serous cystadenocarcinoma(155;1.95e-07)|GBM - Glioblastoma multiforme(68;0.0149)		ATGACCATGCCACGAGACTGA	0.438													6	160					0	0	1	0	0	T	146125579	C	T	146125579	3	4	483	1	0	0	0	0	1	0	0	0	5773	594	21	2	282	2	FBXO30	6	146125579	Missense_Mutation	SNP	C	TCGA-TQ-A7RN-01A-11D-A33T-08	100735116	146125579	24989488	19	37231											
IYD	389434	broad.mit.edu	37	6	150715311	150715311	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RN-01A-11D-A33T-08	TCGA-TQ-A7RN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	329cf5be-2d8c-4863-924b-48ea7f91a1f5	996f3527-e21e-498e-a938-8bb6f4ea35a7	g.chr6:150715311G>A	ENST00000344419.3	+	4	747	c.607G>A	c.(607-609)Gca>Aca	p.A203T	IYD_ENST00000392256.2_Missense_Mutation_p.A203T|IYD_ENST00000500320.3_Missense_Mutation_p.A203T|IYD_ENST00000229447.5_Missense_Mutation_p.A203T|IYD_ENST00000392255.3_Missense_Mutation_p.A203T|IYD_ENST00000425615.3_Missense_Mutation_p.A148T	NM_203395.2	NP_981932.1	Q6PHW0	IYD1_HUMAN	iodotyrosine deiodinase	203					cellular nitrogen compound metabolic process|hormone biosynthetic process	integral to membrane|plasma membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	15		Ovarian(120;0.028)	BRCA - Breast invasive adenocarcinoma(37;0.215)	OV - Ovarian serous cystadenocarcinoma(155;4.16e-12)		TGGTTTCGCCGCAAATGGCAA	0.433													4	224					0	0	1	0	0	A	150715311	G	A	150715311	3	1	483	1	0	0	0	0	1	0	0	0	7976	1087	38	1	621	1	IYD	6	150715311	Missense_Mutation	SNP	G	TCGA-TQ-A7RN-01A-11D-A33T-08	4589732	150715311	20399756	20	37232											
ZNF117	51351	broad.mit.edu	37	7	64439187	64439187	+	Silent	SNP	G	G	A			TCGA-TQ-A7RN-01A-11D-A33T-08	TCGA-TQ-A7RN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	329cf5be-2d8c-4863-924b-48ea7f91a1f5	996f3527-e21e-498e-a938-8bb6f4ea35a7	g.chr7:64439187G>A	ENST00000282869.6	-	4	2046	c.762C>T	c.(760-762)tgC>tgT	p.C254C		NM_015852.3	NP_056936.2	Q03924	ZN117_HUMAN	zinc finger protein 117							nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(1)|skin(1)	22		Lung NSC(55;0.0295)|all_lung(88;0.0691)				AAGCTTTGCCGCATTCTTCAC	0.368													4	190					0	0	1	0	0	A	64439187	G	A	64439187	2	1	483	1	0	0	0	0	0	0	0	1	17775	1079	38	1		1	ZNF117	7	64439187	Silent	SNP	G	TCGA-TQ-A7RN-01A-11D-A33T-08		64439187	94699476	21	37233											
COPS6	10980	broad.mit.edu	37	7	99688278	99688281	+	Splice_Site	DEL	GTGA	GTGA	-			TCGA-TQ-A7RN-01A-11D-A33T-08	TCGA-TQ-A7RN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	329cf5be-2d8c-4863-924b-48ea7f91a1f5	996f3527-e21e-498e-a938-8bb6f4ea35a7	g.chr7:99688278_99688281delGTGA	ENST00000303904.3	+	5	523		c.e5+1		COPS6_ENST00000418625.1_Splice_Site	NM_006833.4	NP_006824.2	Q7L5N1	CSN6_HUMAN	COP9 signalosome subunit 6						cullin deneddylation|interspecies interaction between organisms	cytoplasm|signalosome	protein binding			breast(1)|endometrium(3)|large_intestine(4)|lung(2)|prostate(1)|stomach(1)	12	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			GCACACAGATGTGAGTAATACTCC	0.49													57	96	---	---	---	---						-	99688281	GTGA	-	99688278	8	5	483	1	0	1	0	1	0	0	1	0	3760	1391	48	0	505	0	COPS6	7	99688278	Splice_Site	DEL	GTGA	TCGA-TQ-A7RN-01A-11D-A33T-08	35249091	99688278	59450385	22	37234											
FAM71F1	84691	broad.mit.edu	37	7	128370052	128370052	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RN-01A-11D-A33T-08	TCGA-TQ-A7RN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	329cf5be-2d8c-4863-924b-48ea7f91a1f5	996f3527-e21e-498e-a938-8bb6f4ea35a7	g.chr7:128370052C>T	ENST00000315184.5	+	6	1003	c.950C>T	c.(949-951)tCc>tTc	p.S317F	FAM71F1_ENST00000485070.1_Missense_Mutation_p.S216F	NM_001282788.1|NM_032599.2	NP_001269717.1|NP_115988.1	Q96KD3	F71F1_HUMAN	family with sequence similarity 71, member F1	317										NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18						GAGAACCCCTCCGGCCTGCAG	0.592													8	255					0	0	1	0	0	T	128370052	C	T	128370052	3	4	483	1	0	0	0	0	1	0	0	0	5647	855	30	2	972	2	FAM71F1	7	128370052	Missense_Mutation	SNP	C	TCGA-TQ-A7RN-01A-11D-A33T-08	28681774	128370052	30768611	23	37235											
TTC26	79989	broad.mit.edu	37	7	138832962	138832962	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RN-01A-11D-A33T-08	TCGA-TQ-A7RN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	329cf5be-2d8c-4863-924b-48ea7f91a1f5	996f3527-e21e-498e-a938-8bb6f4ea35a7	g.chr7:138832962G>A	ENST00000464848.1	+	7	636	c.556G>A	c.(556-558)Gcc>Acc	p.A186T	TTC26_ENST00000481482.1_3'UTR|TTC26_ENST00000343187.4_Missense_Mutation_p.A155T|TTC26_ENST00000474035.2_Missense_Mutation_p.A186T|TTC26_ENST00000430935.1_Missense_Mutation_p.A186T|TTC26_ENST00000478836.2_Intron|TTC26_ENST00000495038.1_Intron			A0AVF1	TTC26_HUMAN	tetratricopeptide repeat domain 26	186							binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	24						GGAATACCTTGCCCTTAATGT	0.383													25	277					0	0	1	0	0	A	138832962	G	A	138832962	3	1	483	1	0	0	0	0	1	0	0	0	16756	1319	46	2	582	2	TTC26	7	138832962	Missense_Mutation	SNP	G	TCGA-TQ-A7RN-01A-11D-A33T-08	10462910	138832962	20305701	24	37236											
TAS2R60	338398	broad.mit.edu	37	7	143140842	143140842	+	Silent	SNP	G	G	A			TCGA-TQ-A7RN-01A-11D-A33T-08	TCGA-TQ-A7RN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	329cf5be-2d8c-4863-924b-48ea7f91a1f5	996f3527-e21e-498e-a938-8bb6f4ea35a7	g.chr7:143140842G>A	ENST00000332690.1	+	1	297	c.297G>A	c.(295-297)caG>caA	p.Q99Q	EPHA1-AS1_ENST00000429289.1_RNA	NM_177437.1	NP_803186.1	P59551	T2R60_HUMAN	taste receptor, type 2, member 60	99					sensory perception of bitter taste	integral to membrane	G-protein coupled receptor activity			breast(1)|kidney(1)|large_intestine(2)|lung(17)|prostate(1)|skin(7)|urinary_tract(2)	31	Melanoma(164;0.172)					TAGCTTTCCAGTGGGACTTCC	0.483													85	216					0	0	1	0	0	A	143140842	G	A	143140842	2	1	483	1	0	0	0	0	0	0	0	1	15642	1020	36	2		2	TAS2R60	7	143140842	Silent	SNP	G	TCGA-TQ-A7RN-01A-11D-A33T-08	4307880	143140842	15997821	25	37237											
WRN	7486	broad.mit.edu	37	8	30945377	30945379	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-TQ-A7RN-01A-11D-A33T-08	TCGA-TQ-A7RN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	329cf5be-2d8c-4863-924b-48ea7f91a1f5	996f3527-e21e-498e-a938-8bb6f4ea35a7	g.chr8:30945377_30945379delAAG	ENST00000298139.5	+	12	1766_1768	c.1517_1519delAAG	c.(1516-1521)aaagaa>aaa	p.E510del		NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like	510	Poly-Glu.				base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding			central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		CTTCCTACTAaagaagaagaaga	0.36			"Mis, N, F, S"			"osteosarcoma, meningioma, others"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome				7	167	---	---	---	---						-	30945379	AAG	-	30945377	7	5	483	1	0	1	0	1	0	0	0	0	17462	14	1	0	1559	0	WRN	8	30945377	In_Frame_Del	DEL	AAG	TCGA-TQ-A7RN-01A-11D-A33T-08		30945377	115418645	26	37238											
RLN2	6019	broad.mit.edu	37	9	5304440	5304440	+	Silent	SNP	G	G	A			TCGA-TQ-A7RN-01A-11D-A33T-08	TCGA-TQ-A7RN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	329cf5be-2d8c-4863-924b-48ea7f91a1f5	996f3527-e21e-498e-a938-8bb6f4ea35a7	g.chr9:5304440G>A	ENST00000381627.3	-	1	529	c.141C>T	c.(139-141)tgC>tgT	p.C47C	RLN2_ENST00000308420.3_Silent_p.C47C	NM_134441.2	NP_604390.1	P04090	REL2_HUMAN	relaxin 2	47					female pregnancy	extracellular region	hormone activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)	11	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0201)|Lung(218;0.0987)		TGCTCATGCCGCAAATGGCAA	0.552													4	120					0	0	1	0	0	A	5304440	G	A	5304440	2	1	483	1	0	0	0	0	0	0	0	1	13444	1079	38	1		1	RLN2	9	5304440	Silent	SNP	G	TCGA-TQ-A7RN-01A-11D-A33T-08		5304440	135908991	27	37239											
C5	727	broad.mit.edu	37	9	123732466	123732466	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RN-01A-11D-A33T-08	TCGA-TQ-A7RN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	329cf5be-2d8c-4863-924b-48ea7f91a1f5	996f3527-e21e-498e-a938-8bb6f4ea35a7	g.chr9:123732466C>T	ENST00000223642.1	-	32	4173	c.4144G>A	c.(4144-4146)Gat>Aat	p.D1382N		NM_001735.2	NP_001726.2	P01031	CO5_HUMAN	complement component 5	1382					activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|G-protein coupled receptor protein signaling pathway|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production	extracellular space|membrane attack complex	chemokine activity|endopeptidase inhibitor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)	TCCTGAGTATCGATTTTCAAA	0.338													36	47					0	0	1	0	0	T	123732466	C	T	123732466	3	4	483	1	0	0	0	0	1	0	0	0	2295	884	31	1	926	1	C5	9	123732466	Missense_Mutation	SNP	C	TCGA-TQ-A7RN-01A-11D-A33T-08	118428026	123732466	17480965	28	37240											
CCNY	219771	broad.mit.edu	37	10	35841995	35841995	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RN-01A-11D-A33T-08	TCGA-TQ-A7RN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	329cf5be-2d8c-4863-924b-48ea7f91a1f5	996f3527-e21e-498e-a938-8bb6f4ea35a7	g.chr10:35841995G>A	ENST00000374704.4	+	8	808	c.628G>A	c.(628-630)Gcc>Acc	p.A210T	CCNY_ENST00000339497.5_Missense_Mutation_p.A185T|CCNY_ENST00000265375.9_Missense_Mutation_p.A156T|CCNY_ENST00000374706.1_Missense_Mutation_p.A156T|CCNY_ENST00000492478.1_3'UTR	NM_145012.4	NP_659449.3	Q8ND76	CCNY_HUMAN	cyclin Y	210	Cyclin N-terminal.				cell division|G2/M transition of mitotic cell cycle|positive regulation of cyclin-dependent protein kinase activity|regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytoplasmic cyclin-dependent protein kinase holoenzyme complex|nucleus|plasma membrane	cyclin-dependent protein kinase regulator activity|protein kinase binding	p.A156T(1)		cervix(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	8						TATCTGTCCGGCCAACTGGAA	0.473													4	218					0	0	1	0	0	A	35841995	G	A	35841995	3	1	483	1	0	0	0	0	1	0	0	0	2958	1203	42	2	658	2	CCNY	10	35841995	Missense_Mutation	SNP	G	TCGA-TQ-A7RN-01A-11D-A33T-08		35841995	99692752	29	37241											
ZMIZ1	57178	broad.mit.edu	37	10	81052021	81052021	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RN-01A-11D-A33T-08	TCGA-TQ-A7RN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	329cf5be-2d8c-4863-924b-48ea7f91a1f5	996f3527-e21e-498e-a938-8bb6f4ea35a7	g.chr10:81052021G>A	ENST00000334512.5	+	11	1437	c.865G>A	c.(865-867)Gca>Aca	p.A289T	ZMIZ1_ENST00000478357.1_3'UTR	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	289	Ala-rich.				transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			agcggcagtggcagcagcagc	0.652													44	123					0	0	1	0	0	A	81052021	G	A	81052021	3	1	483	1	0	0	0	0	1	0	0	0	17754	1203	42	2	891	2	ZMIZ1	10	81052021	Missense_Mutation	SNP	G	TCGA-TQ-A7RN-01A-11D-A33T-08	45210026	81052021	54482726	30	37242											
OR5L1	219437	broad.mit.edu	37	11	55579457	55579457	+	Missense_Mutation	SNP	A	A	T			TCGA-TQ-A7RN-01A-11D-A33T-08	TCGA-TQ-A7RN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	329cf5be-2d8c-4863-924b-48ea7f91a1f5	996f3527-e21e-498e-a938-8bb6f4ea35a7	g.chr11:55579457A>T	ENST00000333973.2	+	1	604	c.515A>T	c.(514-516)aAt>aTt	p.N172I		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, member 1	172					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				TATAGATCTAATGTGATTAAC	0.458													197	262					0	0	1	0	0	T	55579457	A	T	55579457	3	4	483	1	0	0	0	0	1	0	0	0	11217	101	4	4	517	4	OR5L1	11	55579457	Missense_Mutation	SNP	A	TCGA-TQ-A7RN-01A-11D-A33T-08		55579457	79427059	31	37243											
LRP5	4041	broad.mit.edu	37	11	68153885	68153885	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RN-01A-11D-A33T-08	TCGA-TQ-A7RN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	329cf5be-2d8c-4863-924b-48ea7f91a1f5	996f3527-e21e-498e-a938-8bb6f4ea35a7	g.chr11:68153885C>T	ENST00000294304.7	+	6	1223	c.1117C>T	c.(1117-1119)Cgg>Tgg	p.R373W		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	373	Beta-propeller 2.				adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GGACGACATCCGGCACGCCAT	0.657													4	101					0	0	1	0	0	T	68153885	C	T	68153885	3	4	483	1	0	0	0	0	1	0	0	0	9005	643	23	1	1139	1	LRP5	11	68153885	Missense_Mutation	SNP	C	TCGA-TQ-A7RN-01A-11D-A33T-08	12574428	68153885	66852631	32	37244											
NPAT	4863	broad.mit.edu	37	11	108032484	108032484	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RN-01A-11D-A33T-08	TCGA-TQ-A7RN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	329cf5be-2d8c-4863-924b-48ea7f91a1f5	996f3527-e21e-498e-a938-8bb6f4ea35a7	g.chr11:108032484G>A	ENST00000278612.8	-	17	3434	c.3329C>T	c.(3328-3330)cCt>cTt	p.P1110L		NM_002519.2	NP_002510.2	Q14207	NPAT_HUMAN	nuclear protein, ataxia-telangiectasia locus	1110					positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	protein C-terminus binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5)	46		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)		ATTATTAGAAGGGGGTTTTAA	0.428													5	208					0	0	1	0	0	A	108032484	G	A	108032484	3	1	483	1	0	0	0	0	1	0	0	0	10613	1000	35	2	962	2	NPAT	11	108032484	Missense_Mutation	SNP	G	TCGA-TQ-A7RN-01A-11D-A33T-08	39878599	108032484	26974032	33	37245											
ROBO3	64221	broad.mit.edu	37	11	124744124	124744124	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RN-01A-11D-A33T-08	TCGA-TQ-A7RN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	329cf5be-2d8c-4863-924b-48ea7f91a1f5	996f3527-e21e-498e-a938-8bb6f4ea35a7	g.chr11:124744124G>A	ENST00000397801.1	+	12	2135	c.1943G>A	c.(1942-1944)cGt>cAt	p.R648H	ROBO3_ENST00000538940.1_Missense_Mutation_p.R626H	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3 (Drosophila)	648					axon midline choice point recognition	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)		GAGCCTGTCCGTACACAGGGT	0.557													4	100					0	0	1	0	0	A	124744124	G	A	124744124	3	1	483	1	0	0	0	0	1	0	0	0	13567	1145	40	1	1989	1	ROBO3	11	124744124	Missense_Mutation	SNP	G	TCGA-TQ-A7RN-01A-11D-A33T-08	16711640	124744124	10262392	34	37246											
SRPR	6734	broad.mit.edu	37	11	126135266	126135266	+	Missense_Mutation	SNP	A	A	G			TCGA-TQ-A7RN-01A-11D-A33T-08	TCGA-TQ-A7RN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	329cf5be-2d8c-4863-924b-48ea7f91a1f5	996f3527-e21e-498e-a938-8bb6f4ea35a7	g.chr11:126135266A>G	ENST00000332118.6	-	10	1362	c.1208T>C	c.(1207-1209)gTa>gCa	p.V403A	SRPR_ENST00000532259.1_Missense_Mutation_p.V375A	NM_003139.3	NP_003130.2	P08240	SRPR_HUMAN	signal recognition particle receptor (docking protein)	403					SRP-dependent cotranslational protein targeting to membrane	integral to membrane|signal recognition particle receptor complex	GTP binding|GTPase activity|receptor activity|signal recognition particle binding			endometrium(7)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)	21	all_hematologic(175;0.145)			BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0736)		GAGCATGTCTACACGACGCTG	0.572													5	95					0	0	1	0	0	G	126135266	A	G	126135266	3	3	483	1	0	0	0	0	1	0	0	0	15218	391	14	3	728	3	SRPR	11	126135266	Missense_Mutation	SNP	A	TCGA-TQ-A7RN-01A-11D-A33T-08	1391142	126135266	8871250	35	37247											
CHD4	1108	broad.mit.edu	37	12	6701634	6701634	+	Missense_Mutation	SNP	A	A	C			TCGA-TQ-A7RN-01A-11D-A33T-08	TCGA-TQ-A7RN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	329cf5be-2d8c-4863-924b-48ea7f91a1f5	996f3527-e21e-498e-a938-8bb6f4ea35a7	g.chr12:6701634A>C	ENST00000309577.6	-	19	3036	c.2873T>G	c.(2872-2874)cTc>cGc	p.L958R	CHD4_ENST00000544040.1_Missense_Mutation_p.L951R|CHD4_ENST00000544484.1_Missense_Mutation_p.L955R|CHD4_ENST00000357008.2_Missense_Mutation_p.L958R			Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	958					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding	p.L958H(2)		central_nervous_system(2)	2						ATCGGCTTTGAGCCGCCGCAA	0.502													10	217					0	0	1	0	0	C	6701634	A	C	6701634	3	2	483	1	0	0	0	0	1	0	0	0	3349	304	11	5	2953	5	CHD4	12	6701634	Missense_Mutation	SNP	A	TCGA-TQ-A7RN-01A-11D-A33T-08		6701634	127150261	36	37248											
COL4A2	1284	broad.mit.edu	37	13	111156557	111156557	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RN-01A-11D-A33T-08	TCGA-TQ-A7RN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	329cf5be-2d8c-4863-924b-48ea7f91a1f5	996f3527-e21e-498e-a938-8bb6f4ea35a7	g.chr13:111156557G>A	ENST00000360467.5	+	45	4654	c.4348G>A	c.(4348-4350)Ggc>Agc	p.G1450S	COL4A2-AS1_ENST00000417970.2_RNA	NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	1450	Triple-helical region.				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			TGCTGTTCCCGGCTTCCGGGG	0.597													4	160					0	0	1	0	0	A	111156557	G	A	111156557	3	1	483	1	0	0	0	0	1	0	0	0	3713	1116	39	1	4522	1	COL4A2	13	111156557	Missense_Mutation	SNP	G	TCGA-TQ-A7RN-01A-11D-A33T-08		111156557	4013321	37	37249											
TP53	7157	broad.mit.edu	37	17	7577107	7577107	+	Missense_Mutation	SNP	A	A	C			TCGA-TQ-A7RN-01A-11D-A33T-08	TCGA-TQ-A7RN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	329cf5be-2d8c-4863-924b-48ea7f91a1f5	996f3527-e21e-498e-a938-8bb6f4ea35a7	g.chr17:7577107A>C	ENST00000420246.2	-	8	963	c.831T>G	c.(829-831)tgT>tgG	p.C277W	TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.C277W|TP53_ENST00000269305.4_Missense_Mutation_p.C277W|TP53_ENST00000359597.4_Missense_Mutation_p.C277W|TP53_ENST00000445888.2_Missense_Mutation_p.C277W	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	277	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in an osteosarcoma with no family history; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(8)|p.C277*(8)|p.C277C(4)|p.?(2)|p.P278fs*28(2)|p.C277W(2)|p.A276_R283delACPGRDRR(1)|p.C275fs*20(1)|p.A276fs*64(1)|p.L265_K305del41(1)|p.F270_D281del12(1)|p.A276_C277delAC(1)|p.V274_P278del(1)|p.C277_P278insXXXXXXX(1)|p.S269fs*21(1)|p.C275fs*67(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(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)		CTCTCCCAGGACAGGCACAAA	0.547		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			28	27					0	0	1	0	0	C	7577107	A	C	7577107	3	2	483	1	0	0	0	0	1	0	0	0	16442	273	10	5	455	5	TP53	17	7577107	Missense_Mutation	SNP	A	TCGA-TQ-A7RN-01A-11D-A33T-08		7577107	73618103	38	37250											
DNAH9	1770	broad.mit.edu	37	17	11684410	11684410	+	Missense_Mutation	SNP	A	A	G			TCGA-TQ-A7RN-01A-11D-A33T-08	TCGA-TQ-A7RN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	329cf5be-2d8c-4863-924b-48ea7f91a1f5	996f3527-e21e-498e-a938-8bb6f4ea35a7	g.chr17:11684410A>G	ENST00000262442.4	+	39	7705	c.7637A>G	c.(7636-7638)gAc>gGc	p.D2546G	DNAH9_ENST00000454412.2_Missense_Mutation_p.D2546G	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9		AAA 3 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TTCATTGATGACATGAACATG	0.547													3	75					0	0	1	0	0	G	11684410	A	G	11684410	3	3	483	1	0	0	0	0	1	0	0	0	4635	275	10	3	7791	3	DNAH9	17	11684410	Missense_Mutation	SNP	A	TCGA-TQ-A7RN-01A-11D-A33T-08	4107303	11684410	69510800	39	37251											
CACNA1G	8913	broad.mit.edu	37	17	48677187	48677187	+	Silent	SNP	G	G	A			TCGA-TQ-A7RN-01A-11D-A33T-08	TCGA-TQ-A7RN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	329cf5be-2d8c-4863-924b-48ea7f91a1f5	996f3527-e21e-498e-a938-8bb6f4ea35a7	g.chr17:48677187G>A	ENST00000352832.5	+	16	3960	c.3588G>A	c.(3586-3588)ctG>ctA	p.L1196L	CACNA1G_ENST00000514181.1_Silent_p.L1219L|CACNA1G_ENST00000502264.1_Silent_p.L1196L|CACNA1G_ENST00000354983.4_Silent_p.L1196L|CACNA1G_ENST00000514717.1_Silent_p.L1196L|CACNA1G_ENST00000503485.1_Silent_p.L1219L|CACNA1G_ENST00000510366.1_Silent_p.L1219L|CACNA1G_ENST00000358244.5_Silent_p.L1196L|CACNA1G_ENST00000360761.4_Silent_p.L1196L|CACNA1G_ENST00000429973.2_Silent_p.L1219L|CACNA1G_ENST00000505165.1_Silent_p.L1219L|CACNA1G_ENST00000513964.1_Silent_p.L1219L|CACNA1G_ENST00000507896.1_Silent_p.L1219L|CACNA1G_ENST00000416767.4_Silent_p.L1219L|CACNA1G_ENST00000507609.1_Silent_p.L1219L|CACNA1G_ENST00000515165.1_Silent_p.L1219L|CACNA1G_ENST00000512389.1_Silent_p.L1219L|CACNA1G_ENST00000515765.1_Silent_p.L1219L|CACNA1G_ENST00000513689.2_Silent_p.L1219L|CACNA1G_ENST00000442258.2_Silent_p.L1196L|CACNA1G_ENST00000514079.1_Silent_p.L1219L|CACNA1G_ENST00000515411.1_Silent_p.L1219L|CACNA1G_ENST00000359106.5_Silent_p.L1219L|CACNA1G_ENST00000507510.2_Silent_p.L1219L|CACNA1G_ENST00000510115.1_Silent_p.L1196L|CACNA1G_ENST00000507336.1_Silent_p.L1219L	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	1219					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	ACCCCCCACTGGATGGGGATG	0.672													21	53					0	0	1	0	0	A	48677187	G	A	48677187	2	1	483	1	0	0	0	0	0	0	0	1	2562	1335	47	2		2	CACNA1G	17	48677187	Silent	SNP	G	TCGA-TQ-A7RN-01A-11D-A33T-08	36992777	48677187	32518023	40	37252											
BAGE2	85319	broad.mit.edu	37	21	11058447	11058450	+	RNA	DEL	AAAC	AAAC	-			TCGA-TQ-A7RN-01A-11D-A33T-08	TCGA-TQ-A7RN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	329cf5be-2d8c-4863-924b-48ea7f91a1f5	996f3527-e21e-498e-a938-8bb6f4ea35a7	g.chr21:11058447_11058450delAAAC	ENST00000470054.1	-	0	324									B melanoma antigen family, member 2															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)		GCAAAATATTAAACAAAGGATTCG	0.294													7	34	---	---	---	---						-	11058450	AAAC	-	11058447	6	5	483	0	1	1	0	1	0	0	0	0	1290	377	13	0		0	BAGE2	21	11058447	RNA	DEL	AAAC	TCGA-TQ-A7RN-01A-11D-A33T-08		11058447	37071448	41	37253											
POTED	317754	broad.mit.edu	37	21	15013750	15013750	+	Missense_Mutation	SNP	C	C	A			TCGA-TQ-A7RN-01A-11D-A33T-08	TCGA-TQ-A7RN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	329cf5be-2d8c-4863-924b-48ea7f91a1f5	996f3527-e21e-498e-a938-8bb6f4ea35a7	g.chr21:15013750C>A	ENST00000299443.5	+	11	1670	c.1618C>A	c.(1618-1620)Cta>Ata	p.L540I		NM_174981.3|NM_207355.2	NP_778146.2|NP_997238.2	Q86YR6	POTED_HUMAN	POTE ankyrin domain family, member D	540						plasma membrane				central_nervous_system(1)|large_intestine(10)|liver(2)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	33						AAGACTGGAACTAGATGAAAC	0.368													76	134					4.03997e-35	4.10213e-35	1	1	0	A	15013750	C	A	15013750	3	1	483	1	0	0	0	0	1	0	0	0	12310	564	20	4	1660	4	POTED	21	15013750	Missense_Mutation	SNP	C	TCGA-TQ-A7RN-01A-11D-A33T-08	3955303	15013750	33116145	42	37254											
CNKSR2	22866	broad.mit.edu	37	X	21627189	21627189	+	Splice_Site	SNP	A	A	G			TCGA-TQ-A7RN-01A-11D-A33T-08	TCGA-TQ-A7RN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	329cf5be-2d8c-4863-924b-48ea7f91a1f5	996f3527-e21e-498e-a938-8bb6f4ea35a7	g.chrX:21627189A>G	ENST00000425654.2	+	19	2536	c.2056A>G	c.(2056-2058)Atg>Gtg	p.M686V	CNKSR2_ENST00000543067.1_Splice_Site_p.M667V|CNKSR2_ENST00000279451.4_Splice_Site_p.M716V|CNKSR2_ENST00000379510.3_Splice_Site_p.M716V	NM_001168647.1	NP_001162118.1	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras 2	716					regulation of signal transduction	cytoplasm|membrane	protein binding			breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						CTTTCTACAGATGAGTTGCGC	0.453													11	43					0	0	1	0	0	G	21627189	A	G	21627189	5	3	483	1	0	0	0	0	0	0	1	0	3630	347	12	3	2224	3	CNKSR2	23	21627189	Splice_Site	SNP	A	TCGA-TQ-A7RN-01A-11D-A33T-08		21627189	133643371	43	37255											
HUWE1	10075	broad.mit.edu	37	X	53613509	53613509	+	Silent	SNP	G	G	A			TCGA-TQ-A7RN-01A-11D-A33T-08	TCGA-TQ-A7RN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	329cf5be-2d8c-4863-924b-48ea7f91a1f5	996f3527-e21e-498e-a938-8bb6f4ea35a7	g.chrX:53613509G>A	ENST00000342160.3	-	38	5222	c.4765C>T	c.(4765-4767)Ctg>Ttg	p.L1589L	HUWE1_ENST00000218328.8_Silent_p.L1589L|HUWE1_ENST00000262854.6_Silent_p.L1589L			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	1589					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						AAATCAATCAGGAGCAACACT	0.383													4	39					0	0	1	0	0	A	53613509	G	A	53613509	2	1	483	1	0	0	0	0	0	0	0	1	7505	991	35	2		2	HUWE1	23	53613509	Silent	SNP	G	TCGA-TQ-A7RN-01A-11D-A33T-08	31986320	53613509	101657051	44	37256											
ZMAT1	84460	broad.mit.edu	37	X	101138798	101138798	+	Missense_Mutation	SNP	T	T	C			TCGA-TQ-A7RN-01A-11D-A33T-08	TCGA-TQ-A7RN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	329cf5be-2d8c-4863-924b-48ea7f91a1f5	996f3527-e21e-498e-a938-8bb6f4ea35a7	g.chrX:101138798T>C	ENST00000372782.3	-	7	1648	c.1601A>G	c.(1600-1602)cAt>cGt	p.H534R	ZMAT1_ENST00000540921.1_Missense_Mutation_p.H534R|ZMAT1_ENST00000494068.1_5'UTR|ZMAT1_ENST00000458570.1_Missense_Mutation_p.H363R	NM_001011657.3	NP_001011657	A7MD47	A7MD47_HUMAN	zinc finger, matrin-type 1	363						nucleus	zinc ion binding			endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22						TTTCTGTTTATGACCTGCTTG	0.388													51	41					0	0	1	0	0	C	101138798	T	C	101138798	3	2	483	1	0	0	0	0	1	0	0	0	17749	1464	51	3	319	3	ZMAT1	23	101138798	Missense_Mutation	SNP	T	TCGA-TQ-A7RN-01A-11D-A33T-08	47525289	101138798	54131762	45	37257											
AQP10	89872	broad.mit.edu	37	1	154293680	154293680	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RO-01A-11D-A33T-08	TCGA-TQ-A7RO-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cf5c481-732a-40a6-a557-2c2a837d7ed9	a291b686-5cc5-4e06-82fe-27e38cd997dc	g.chr1:154293680C>T	ENST00000484864.1	+	1	85	c.49C>T	c.(49-51)Cgc>Tgc	p.R17C	AQP10_ENST00000324978.3_Missense_Mutation_p.R17C|AQP10_ENST00000355197.4_3'UTR			Q96PS8	AQP10_HUMAN	aquaporin 10	17					response to toxin|transmembrane transport|water transport	integral to membrane|plasma membrane	transporter activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|stomach(2)|upper_aerodigestive_tract(1)	23	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			CCTCCGGATACGCAGCCTCCT	0.567													34	106					0	0	1	0	0	T	154293680	C	T	154293680	3	4	484	1	0	0	0	0	1	0	0	0	819	536	19	1	51	1	AQP10	1	154293680	Missense_Mutation	SNP	C	TCGA-TQ-A7RO-01A-11D-A33T-08		154293680	94956941	1	37258											
ABCB10	23456	broad.mit.edu	37	1	229676423	229676423	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RO-01A-11D-A33T-08	TCGA-TQ-A7RO-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cf5c481-732a-40a6-a557-2c2a837d7ed9	a291b686-5cc5-4e06-82fe-27e38cd997dc	g.chr1:229676423G>A	ENST00000344517.4	-	5	1175	c.1133C>T	c.(1132-1134)gCc>gTc	p.A378V		NM_012089.2	NP_036221.2	Q9NRK6	ABCBA_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 10	378	ABC transmembrane type-1.					integral to mitochondrial membrane|mitochondrial inner membrane	ATP binding|oligopeptide-transporting ATPase activity			breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)	31	Breast(184;0.143)|Ovarian(103;0.249)	Prostate(94;0.167)				CACTTTGCTGGCATATTTCTC	0.403													4	202					0	0	1	0	0	A	229676423	G	A	229676423	3	1	484	1	0	0	0	0	1	0	0	0	41	1203	42	2	1119	2	ABCB10	1	229676423	Missense_Mutation	SNP	G	TCGA-TQ-A7RO-01A-11D-A33T-08	75382743	229676423	19574198	2	37259											
C1orf101	257044	broad.mit.edu	37	1	244756809	244756809	+	Silent	SNP	G	G	A			TCGA-TQ-A7RO-01A-11D-A33T-08	TCGA-TQ-A7RO-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cf5c481-732a-40a6-a557-2c2a837d7ed9	a291b686-5cc5-4e06-82fe-27e38cd997dc	g.chr1:244756809G>A	ENST00000366534.4	+	17	2286	c.2232G>A	c.(2230-2232)agG>agA	p.R744R	C1orf101_ENST00000473875.1_3'UTR|C1orf101_ENST00000366533.4_Silent_p.R744R|C1orf101_ENST00000366531.3_Silent_p.R593R	NM_001130957.1	NP_001124429.1	Q5SY80	CA101_HUMAN	chromosome 1 open reading frame 101	744						integral to membrane				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	36	all_cancers(71;2.99e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)		all cancers(7;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.001)|GBM - Glioblastoma multiforme(7;0.0154)			AGAGAGTAAGGTATATTTGGG	0.348													67	98					0	0	1	0	0	A	244756809	G	A	244756809	2	1	484	1	0	0	0	0	0	0	0	1	1989	1252	44	2		2	C1orf101	1	244756809	Silent	SNP	G	TCGA-TQ-A7RO-01A-11D-A33T-08	15080386	244756809	4493812	3	37260											
OR2L2	26246	broad.mit.edu	37	1	248202246	248202246	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RO-01A-11D-A33T-08	TCGA-TQ-A7RO-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cf5c481-732a-40a6-a557-2c2a837d7ed9	a291b686-5cc5-4e06-82fe-27e38cd997dc	g.chr1:248202246G>A	ENST00000366479.2	+	1	773	c.677G>A	c.(676-678)cGc>cAc	p.R226H	OR2L13_ENST00000366478.2_Intron	NM_001004686.2	NP_001004686.1	Q8NH16	OR2L2_HUMAN	olfactory receptor, family 2, subfamily L, member 2	226					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R226L(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1)	42	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			GCTGTCTACCGCATGCACTCT	0.483													5	352					0	0	1	0	0	A	248202246	G	A	248202246	3	1	484	1	0	0	0	0	1	0	0	0	11055	1087	38	1	679	1	OR2L2	1	248202246	Missense_Mutation	SNP	G	TCGA-TQ-A7RO-01A-11D-A33T-08	3445437	248202246	1048375	4	37261											
CCDC108	255101	broad.mit.edu	37	2	219878294	219878294	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RO-01A-11D-A33T-08	TCGA-TQ-A7RO-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cf5c481-732a-40a6-a557-2c2a837d7ed9	a291b686-5cc5-4e06-82fe-27e38cd997dc	g.chr2:219878294C>T	ENST00000341552.5	-	23	3876	c.3793G>A	c.(3793-3795)Ggt>Agt	p.G1265S	CCDC108_ENST00000453220.1_Missense_Mutation_p.G1265S|AC097468.4_ENST00000441450.1_RNA|CCDC108_ENST00000441968.1_Missense_Mutation_p.G1265S	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	1265						integral to membrane	structural molecule activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGATCAGTACCGATGAACAGG	0.542													3	12					0	0	1	0	0	T	219878294	C	T	219878294	3	4	484	1	0	0	0	0	1	0	0	0	2761	652	23	1	2036	1	CCDC108	2	219878294	Missense_Mutation	SNP	C	TCGA-TQ-A7RO-01A-11D-A33T-08		219878294	23321079	5	37262											
ITIH4	3700	broad.mit.edu	37	3	52860815	52860815	+	Frame_Shift_Del	DEL	G	G	-			TCGA-TQ-A7RO-01A-11D-A33T-08	TCGA-TQ-A7RO-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cf5c481-732a-40a6-a557-2c2a837d7ed9	a291b686-5cc5-4e06-82fe-27e38cd997dc	g.chr3:52860815delG	ENST00000266041.4	-	4	607	c.511delC	c.(511-513)cacfs	p.H171fs	RP5-966M1.6_ENST00000468472.1_3'UTR|ITIH4_ENST00000406595.1_Frame_Shift_Del_p.H171fs|ITIH4_ENST00000485816.1_Frame_Shift_Del_p.H171fs|ITIH4_ENST00000346281.5_Frame_Shift_Del_p.H171fs|ITIH4_ENST00000434759.3_Frame_Shift_Del_p.H83fs	NM_002218.4	NP_002209.2	Q14624	ITIH4_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 4	171					acute-phase response|hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		ACCTGCAGGTGCTTGACCAGC	0.622													41	69	---	---	---	---						-	52860815	G	-	52860815	7	5	484	1	0	1	0	1	0	0	0	0	7950	1319	46	0	2365	0	ITIH4	3	52860815	Frame_Shift_Del	DEL	G	TCGA-TQ-A7RO-01A-11D-A33T-08		52860815	145161615	6	37263											
PIK3CA	5290	broad.mit.edu	37	3	178952085	178952085	+	Missense_Mutation	SNP	A	A	G	rs121913279		TCGA-TQ-A7RO-01A-11D-A33T-08	TCGA-TQ-A7RO-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cf5c481-732a-40a6-a557-2c2a837d7ed9	a291b686-5cc5-4e06-82fe-27e38cd997dc	g.chr3:178952085A>G	ENST00000263967.3	+	21	3297	c.3140A>G	c.(3139-3141)cAt>cGt	p.H1047R		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1047	PI3K/PI4K.		H -> L (in cancer).|H -> R (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane).|H -> Y (in cancer).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.H1047R(1387)|p.H1047L(194)|p.H1047P(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			AATGATGCACATCATGGTGGC	0.378	H1047L(EFM19_BREAST)|H1047R(BT20_BREAST)|H1047R(CAL29_URINARY_TRACT)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(HCC1954_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(MCAS_OVARY)|H1047R(MDAMB453_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(RKO_LARGE_INTESTINE)|H1047R(SKOV3_OVARY)|H1047R(T47D_BREAST)	57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			55	118					0	0	1	0	0	G	178952085	A	G	178952085	3	3	484	1	0	0	0	0	1	0	0	0	11961	217	8	3	3218	3	PIK3CA	3	178952085	Missense_Mutation	SNP	A	TCGA-TQ-A7RO-01A-11D-A33T-08	126091270	178952085	19070345	7	37264											
PDE4D	5144	broad.mit.edu	37	5	59284439	59284439	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RO-01A-11D-A33T-08	TCGA-TQ-A7RO-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cf5c481-732a-40a6-a557-2c2a837d7ed9	a291b686-5cc5-4e06-82fe-27e38cd997dc	g.chr5:59284439G>A	ENST00000502484.2	-	3	371	c.148C>T	c.(148-150)Cct>Tct	p.P50S	PDE4D_ENST00000546160.1_Missense_Mutation_p.P50S	NM_001165899.1	NP_001159371.1	Q08499	PDE4D_HUMAN	phosphodiesterase 4D, cAMP-specific	0	Pro-rich.				signal transduction	cytosol|insoluble fraction|membrane|microtubule organizing center|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|pancreas(1)	15		all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954)		Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276)	Adenosine monophosphate(DB00131)|Dyphylline(DB00651)	AAGGCGAGAGGGGGAAGCTGA	0.488													104	186					0	0	1	0	0	A	59284439	G	A	59284439	3	1	484	1	0	0	0	0	1	0	0	0	11689	1232	43	2	2668	2	PDE4D	5	59284439	Missense_Mutation	SNP	G	TCGA-TQ-A7RO-01A-11D-A33T-08		59284439	121630821	8	37265											
TRIM23	373	broad.mit.edu	37	5	64892881	64892881	+	Missense_Mutation	SNP	T	T	C			TCGA-TQ-A7RO-01A-11D-A33T-08	TCGA-TQ-A7RO-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cf5c481-732a-40a6-a557-2c2a837d7ed9	a291b686-5cc5-4e06-82fe-27e38cd997dc	g.chr5:64892881T>C	ENST00000231524.9	-	8	1677	c.1306A>G	c.(1306-1308)Att>Gtt	p.I436V	TRIM23_ENST00000381018.3_Missense_Mutation_p.I436V|TRIM23_ENST00000274327.7_Missense_Mutation_p.I436V	NM_001656.3	NP_001647.1	P36406	TRI23_HUMAN	tripartite motif containing 23	436	ARF-like.				interspecies interaction between organisms|small GTPase mediated signal transduction	Golgi membrane|lysosomal membrane	enzyme activator activity|GDP binding|GTP binding|GTPase activity|protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	28		Lung NSC(167;3.24e-06)|Prostate(74;0.0138)|Breast(144;0.0433)|Ovarian(174;0.0545)|Colorectal(97;0.234)		Lung(70;0.00473)		TACTTACCAATTGTTGGAATG	0.388													70	185					0	0	1	0	0	C	64892881	T	C	64892881	3	2	484	1	0	0	0	0	1	0	0	0	16558	1493	52	3	501	3	TRIM23	5	64892881	Missense_Mutation	SNP	T	TCGA-TQ-A7RO-01A-11D-A33T-08	5608442	64892881	116022379	9	37266											
MCTP1	79772	broad.mit.edu	37	5	94248550	94248550	+	Silent	SNP	G	G	A			TCGA-TQ-A7RO-01A-11D-A33T-08	TCGA-TQ-A7RO-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cf5c481-732a-40a6-a557-2c2a837d7ed9	a291b686-5cc5-4e06-82fe-27e38cd997dc	g.chr5:94248550G>A	ENST00000515393.1	-	9	1481	c.1482C>T	c.(1480-1482)taC>taT	p.Y494Y	MCTP1_ENST00000312216.8_Silent_p.Y273Y|MCTP1_ENST00000505208.1_Silent_p.Y273Y|MCTP1_ENST00000505078.1_Silent_p.Y10Y|MCTP1_ENST00000429576.2_Silent_p.Y227Y	NM_024717.4	NP_078993.4	Q6DN14	MCTP1_HUMAN	multiple C2 domains, transmembrane 1	494	C2 2.				calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	41		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)		all cancers(79;9.1e-17)		GGAACTTCACGTAGGGATCGC	0.468													5	234					0	0	1	0	0	A	94248550	G	A	94248550	2	1	484	1	0	0	0	0	0	0	0	1	9450	1140	40	1		1	MCTP1	5	94248550	Silent	SNP	G	TCGA-TQ-A7RO-01A-11D-A33T-08	29355669	94248550	86666710	10	37267											
PCDHA2	56146	broad.mit.edu	37	5	140176258	140176258	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RO-01A-11D-A33T-08	TCGA-TQ-A7RO-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cf5c481-732a-40a6-a557-2c2a837d7ed9	a291b686-5cc5-4e06-82fe-27e38cd997dc	g.chr5:140176258C>T	ENST00000526136.1	+	1	1709	c.1709C>T	c.(1708-1710)gCt>gTt	p.A570V	PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000378132.1_Missense_Mutation_p.A570V|PCDHA2_ENST00000520672.2_Missense_Mutation_p.A570V	NM_018905.2	NP_061728.1														NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGCCTAGGGCTGGCACCGCT	0.697													5	191					0	0	1	0	0	T	140176258	C	T	140176258	3	4	484	1	0	0	0	0	1	0	0	0	11571	797	28	2	1711	2	PCDHA2	5	140176258	Missense_Mutation	SNP	C	TCGA-TQ-A7RO-01A-11D-A33T-08	45927708	140176258	40739002	11	37268											
SSPO	23145	broad.mit.edu	37	7	149485858	149485858	+	RNA	SNP	A	A	G			TCGA-TQ-A7RO-01A-11D-A33T-08	TCGA-TQ-A7RO-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cf5c481-732a-40a6-a557-2c2a837d7ed9	a291b686-5cc5-4e06-82fe-27e38cd997dc	g.chr7:149485858A>G	ENST00000378016.2	+	0	4077							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			AGGAAGGTCAATGGCATTGTG	0.622													31	62					0	0	1	0	0	G	149485858	A	G	149485858	1	3	484	0	1	0	0	0	0	0	0	0	15245	98	4	3		3	SSPO	7	149485858	RNA	SNP	A	TCGA-TQ-A7RO-01A-11D-A33T-08		149485858	9652805	12	37269											
WRN	7486	broad.mit.edu	37	8	30946435	30946435	+	Missense_Mutation	SNP	C	C	G			TCGA-TQ-A7RO-01A-11D-A33T-08	TCGA-TQ-A7RO-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cf5c481-732a-40a6-a557-2c2a837d7ed9	a291b686-5cc5-4e06-82fe-27e38cd997dc	g.chr8:30946435C>G	ENST00000298139.5	+	13	1855	c.1606C>G	c.(1606-1608)Caa>Gaa	p.Q536E		NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like	536					base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding			central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		CAATGAAGAGCAAGTTACTTG	0.328			"Mis, N, F, S"			"osteosarcoma, meningioma, others"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome				36	51					0	0	1	0	0	G	30946435	C	G	30946435	3	3	484	1	0	0	0	0	1	0	0	0	17462	711	25	5	1652	5	WRN	8	30946435	Missense_Mutation	SNP	C	TCGA-TQ-A7RO-01A-11D-A33T-08		30946435	115417587	13	37270											
TRPA1	8989	broad.mit.edu	37	8	72968063	72968063	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RO-01A-11D-A33T-08	TCGA-TQ-A7RO-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cf5c481-732a-40a6-a557-2c2a837d7ed9	a291b686-5cc5-4e06-82fe-27e38cd997dc	g.chr8:72968063C>T	ENST00000262209.4	-	11	1429	c.1222G>A	c.(1222-1224)Gat>Aat	p.D408N	RP11-383H13.1_ENST00000457356.4_3'UTR	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	408						integral to plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	TTGTCTTCATCCATTACCAGC	0.368													49	57					0	0	1	0	0	T	72968063	C	T	72968063	3	4	484	1	0	0	0	0	1	0	0	0	16638	855	30	2	2205	2	TRPA1	8	72968063	Missense_Mutation	SNP	C	TCGA-TQ-A7RO-01A-11D-A33T-08	42021628	72968063	73395959	14	37271											
GML	2765	broad.mit.edu	37	8	143928001	143928001	+	Silent	SNP	C	C	T			TCGA-TQ-A7RO-01A-11D-A33T-08	TCGA-TQ-A7RO-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cf5c481-732a-40a6-a557-2c2a837d7ed9	a291b686-5cc5-4e06-82fe-27e38cd997dc	g.chr8:143928001C>T	ENST00000220940.1	+	4	462	c.372C>T	c.(370-372)ccC>ccT	p.P124P		NM_002066.2	NP_002057.1	Q99445	GML_HUMAN	glycosylphosphatidylinositol anchored molecule like	124	UPAR/Ly6.				apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|negative regulation of cell proliferation	anchored to membrane|extrinsic to membrane|plasma membrane		p.P124P(1)		NS(1)|central_nervous_system(2)|endometrium(1)|large_intestine(6)|lung(8)	18	all_cancers(97;4.26e-11)|all_epithelial(106;1.85e-08)|Lung NSC(106;0.000274)|all_lung(105;0.000755)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					ACATGTTACCCGATGAAGTAA	0.418													5	218					0	0	1	0	0	T	143928001	C	T	143928001	2	4	484	1	0	0	0	0	0	0	0	1	6534	639	23	1		1	GML	8	143928001	Silent	SNP	C	TCGA-TQ-A7RO-01A-11D-A33T-08	70959938	143928001	2436021	15	37272											
MLLT3	4300	broad.mit.edu	37	9	20414313	20414313	+	Silent	SNP	G	G	A			TCGA-TQ-A7RO-01A-11D-A33T-08	TCGA-TQ-A7RO-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cf5c481-732a-40a6-a557-2c2a837d7ed9	a291b686-5cc5-4e06-82fe-27e38cd997dc	g.chr9:20414313G>A	ENST00000380338.4	-	5	817	c.531C>T	c.(529-531)agC>agT	p.S177S	MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S174S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	177	Poly-Ser.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctactgctgctgctgc	0.527			T	MLL	ALL								7	247					0	0	1	0	0	A	20414313	G	A	20414313	2	1	484	1	0	0	0	0	0	0	0	1	9676	1310	46	2		2	MLLT3	9	20414313	Silent	SNP	G	TCGA-TQ-A7RO-01A-11D-A33T-08		20414313	120799118	16	37273											
TLN1	7094	broad.mit.edu	37	9	35720836	35720836	+	Silent	SNP	G	G	A			TCGA-TQ-A7RO-01A-11D-A33T-08	TCGA-TQ-A7RO-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cf5c481-732a-40a6-a557-2c2a837d7ed9	a291b686-5cc5-4e06-82fe-27e38cd997dc	g.chr9:35720836G>A	ENST00000314888.9	-	11	1532	c.1179C>T	c.(1177-1179)gcC>gcT	p.A393A	TLN1_ENST00000540444.1_Silent_p.A393A	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	393	FERM.|Interaction with LAYN (By similarity).				axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CGATGTAGCCGGCAATGAGCT	0.507													32	130					0	0	1	0	0	A	35720836	G	A	35720836	2	1	484	1	0	0	0	0	0	0	0	1	16007	1103	39	1		1	TLN1	9	35720836	Silent	SNP	G	TCGA-TQ-A7RO-01A-11D-A33T-08	15306523	35720836	105492595	17	37274											
PHYH	5264	broad.mit.edu	37	10	13337514	13337514	+	Missense_Mutation	SNP	G	G	A	rs141855372	byFrequency	TCGA-TQ-A7RO-01A-11D-A33T-08	TCGA-TQ-A7RO-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cf5c481-732a-40a6-a557-2c2a837d7ed9	a291b686-5cc5-4e06-82fe-27e38cd997dc	g.chr10:13337514G>A	ENST00000396920.3	-	3	574	c.170C>T	c.(169-171)gCc>gTc	p.A57V	PHYH_ENST00000396913.2_5'UTR|PHYH_ENST00000263038.4_Missense_Mutation_p.A76V			O14832	PAHX_HUMAN	phytanoyl-CoA 2-hydroxylase	76					fatty acid alpha-oxidation|nervous system development	peroxisomal matrix	electron carrier activity|L-ascorbic acid binding|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|phytanoyl-CoA dioxygenase activity|protein binding			NS(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)	25		Ovarian(717;0.0448)			Antihemophilic Factor(DB00025)|Vitamin C(DB00126)	TTGAATATCGGCATCAGGTAC	0.353													5	322					0	0	1	0	0	A	13337514	G	A	13337514	3	1	484	1	0	0	0	0	1	0	0	0	11912	1203	42	2	817	2	PHYH	10	13337514	Missense_Mutation	SNP	G	TCGA-TQ-A7RO-01A-11D-A33T-08		13337514	122197233	18	37275											
FGFBP3	143282	broad.mit.edu	37	10	93668353	93668353	+	Frame_Shift_Del	DEL	T	T	-			TCGA-TQ-A7RO-01A-11D-A33T-08	TCGA-TQ-A7RO-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cf5c481-732a-40a6-a557-2c2a837d7ed9	a291b686-5cc5-4e06-82fe-27e38cd997dc	g.chr10:93668353delT	ENST00000311575.5	-	2	537	c.374delA	c.(373-375)cacfs	p.H125fs	RP11-402D21.2_ENST00000610263.1_RNA	NM_152429.4	NP_689642.3	Q8TAT2	FGFP3_HUMAN	fibroblast growth factor binding protein 3	125					positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of vascular permeability	extracellular region	fibroblast growth factor binding|heparin binding			large_intestine(1)|prostate(1)	2		Colorectal(252;0.162)				CGCGGGGTCGTGACAGGGCCT	0.761													2	4	---	---	---	---						-	93668353	T	-	93668353	7	5	484	1	0	1	0	1	0	0	0	0	5895	1696	59	0	406	0	FGFBP3	10	93668353	Frame_Shift_Del	DEL	T	TCGA-TQ-A7RO-01A-11D-A33T-08	80330839	93668353	41866394	19	37276											
HPX	3263	broad.mit.edu	37	11	6452914	6452914	+	Silent	SNP	C	C	T			TCGA-TQ-A7RO-01A-11D-A33T-08	TCGA-TQ-A7RO-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cf5c481-732a-40a6-a557-2c2a837d7ed9	a291b686-5cc5-4e06-82fe-27e38cd997dc	g.chr11:6452914C>T	ENST00000265983.3	-	9	1186	c.1086G>A	c.(1084-1086)gcG>gcA	p.A362A		NM_000613.2	NP_000604.1	P02790	HEMO_HUMAN	hemopexin	362					cellular iron ion homeostasis|interspecies interaction between organisms	extracellular space	heme transporter activity|metal ion binding|protein binding			endometrium(1)|large_intestine(2)|lung(11)|prostate(1)	15		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;5.46e-08)|BRCA - Breast invasive adenocarcinoma(625;0.19)		AGATAAAGGCCGCATCCACAG	0.557													80	108					0	0	1	0	0	T	6452914	C	T	6452914	2	4	484	1	0	0	0	0	0	0	0	1	7387	639	23	1		1	HPX	11	6452914	Silent	SNP	C	TCGA-TQ-A7RO-01A-11D-A33T-08		6452914	128553602	20	37277											
USH1C	10083	broad.mit.edu	37	11	17531148	17531148	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RO-01A-11D-A33T-08	TCGA-TQ-A7RO-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cf5c481-732a-40a6-a557-2c2a837d7ed9	a291b686-5cc5-4e06-82fe-27e38cd997dc	g.chr11:17531148C>T	ENST00000005226.7	-	18	1767	c.1768G>A	c.(1768-1770)Gcc>Acc	p.A590T	USH1C_ENST00000527720.1_Intron|USH1C_ENST00000318024.4_Intron|USH1C_ENST00000529563.1_Intron|USH1C_ENST00000527020.1_Intron	NM_153676.3	NP_710142.1	Q9Y6N9	USH1C_HUMAN	Usher syndrome 1C (autosomal recessive, severe)	0					equilibrioception|G2/M transition of mitotic cell cycle|photoreceptor cell maintenance|sensory perception of sound	apical part of cell|cytoplasm|stereocilium	protein binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						GAGGATGAGGCGCTCACATGG	0.672													8	27					0	0	1	0	0	T	17531148	C	T	17531148	3	4	484	1	0	0	0	0	1	0	0	0	17094	768	27	1	971	1	USH1C	11	17531148	Missense_Mutation	SNP	C	TCGA-TQ-A7RO-01A-11D-A33T-08	11078234	17531148	117475368	21	37278											
OR9Q1	219956	broad.mit.edu	37	11	57947747	57947747	+	Silent	SNP	C	C	T			TCGA-TQ-A7RO-01A-11D-A33T-08	TCGA-TQ-A7RO-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cf5c481-732a-40a6-a557-2c2a837d7ed9	a291b686-5cc5-4e06-82fe-27e38cd997dc	g.chr11:57947747C>T	ENST00000335397.3	+	3	1147	c.831C>T	c.(829-831)taC>taT	p.Y277Y		NM_001005212.3	NP_001005212.1	Q8NGQ5	OR9Q1_HUMAN	olfactory receptor, family 9, subfamily Q, member 1	277					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Breast(21;0.222)				CTGTGCTTTACACAGAGGTCA	0.468													53	119					0	0	1	0	0	T	57947747	C	T	57947747	2	4	484	1	0	0	0	0	0	0	0	1	11302	489	17	2		2	OR9Q1	11	57947747	Silent	SNP	C	TCGA-TQ-A7RO-01A-11D-A33T-08	40416599	57947747	77058769	22	37279											
FOLR4	390243	broad.mit.edu	37	11	94038918	94038918	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RO-01A-11D-A33T-08	TCGA-TQ-A7RO-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cf5c481-732a-40a6-a557-2c2a837d7ed9	a291b686-5cc5-4e06-82fe-27e38cd997dc	g.chr11:94038918C>T	ENST00000440961.2	+	1	160	c.116C>T	c.(115-117)cCa>cTa	p.P39L		NM_001199206.1	NP_001186135.1	A6ND01	FOLR4_HUMAN	folate receptor 4, delta (putative)	39						extracellular region	folic acid binding|receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14						GTGCCCAGCCCAGAAGACAAG	0.567													32	33					0	0	1	0	0	T	94038918	C	T	94038918	3	4	484	1	0	0	0	0	1	0	0	0	6017	594	21	2	118	2	FOLR4	11	94038918	Missense_Mutation	SNP	C	TCGA-TQ-A7RO-01A-11D-A33T-08	36091171	94038918	40967598	23	37280											
PRDM10	56980	broad.mit.edu	37	11	129812402	129812402	+	Missense_Mutation	SNP	C	C	A			TCGA-TQ-A7RO-01A-11D-A33T-08	TCGA-TQ-A7RO-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cf5c481-732a-40a6-a557-2c2a837d7ed9	a291b686-5cc5-4e06-82fe-27e38cd997dc	g.chr11:129812402C>A	ENST00000358825.5	-	7	1116	c.885G>T	c.(883-885)gaG>gaT	p.E295D	PRDM10_ENST00000528746.1_Missense_Mutation_p.E269D|PRDM10_ENST00000304538.6_Missense_Mutation_p.E209D|PRDM10_ENST00000526082.1_Missense_Mutation_p.E209D|PRDM10_ENST00000423662.2_Missense_Mutation_p.E209D|PRDM10_ENST00000360871.3_Missense_Mutation_p.E295D	NM_020228.2	NP_064613.2	Q9NQV6	PRD10_HUMAN	PR domain containing 10	295	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)		CCAGGTTCTGCTCCAGGTGAT	0.473													4	254					0.150653	0.150653	1	1	0	A	129812402	C	A	129812402	3	1	484	1	0	0	0	0	1	0	0	0	12503	796	28	4	2661	4	PRDM10	11	129812402	Missense_Mutation	SNP	C	TCGA-TQ-A7RO-01A-11D-A33T-08	35773484	129812402	5194114	24	37281											
MED13L	23389	broad.mit.edu	37	12	116435002	116435002	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RO-01A-11D-A33T-08	TCGA-TQ-A7RO-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cf5c481-732a-40a6-a557-2c2a837d7ed9	a291b686-5cc5-4e06-82fe-27e38cd997dc	g.chr12:116435002G>A	ENST00000281928.3	-	15	2809	c.2603C>T	c.(2602-2604)cCa>cTa	p.P868L		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	868					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent					NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		CAAAGATGGTGGAGTGGGAAA	0.398													4	234					0	0	1	0	0	A	116435002	G	A	116435002	3	1	484	1	0	0	0	0	1	0	0	0	9481	1348	47	2	4097	2	MED13L	12	116435002	Missense_Mutation	SNP	G	TCGA-TQ-A7RO-01A-11D-A33T-08		116435002	17416893	25	37282											
DCT	1638	broad.mit.edu	37	13	95121241	95121241	+	Silent	SNP	G	G	A			TCGA-TQ-A7RO-01A-11D-A33T-08	TCGA-TQ-A7RO-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cf5c481-732a-40a6-a557-2c2a837d7ed9	a291b686-5cc5-4e06-82fe-27e38cd997dc	g.chr13:95121241G>A	ENST00000377028.5	-	2	767	c.354C>T	c.(352-354)tgC>tgT	p.C118C	DCT_ENST00000446125.1_Silent_p.C118C	NM_001922.3	NP_001913.2	P40126	TYRP2_HUMAN	dopachrome tautomerase	118					epidermis development|melanin biosynthetic process from tyrosine	cytosol|integral to membrane|melanosome membrane|microsome	copper ion binding|dopachrome isomerase activity|oxidoreductase activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	50	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988)		COAD - Colon adenocarcinoma(199;7.07e-05)|GBM - Glioblastoma multiforme(99;0.000472)		TCTTCCGCTCGCAGTTGGGAC	0.498													11	390					0	0	1	0	0	A	95121241	G	A	95121241	2	1	484	1	0	0	0	0	0	0	0	1	4327	1079	38	1		1	DCT	13	95121241	Silent	SNP	G	TCGA-TQ-A7RO-01A-11D-A33T-08		95121241	20048637	26	37283											
DISP2	85455	broad.mit.edu	37	15	40655853	40655853	+	Silent	SNP	G	G	A			TCGA-TQ-A7RO-01A-11D-A33T-08	TCGA-TQ-A7RO-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cf5c481-732a-40a6-a557-2c2a837d7ed9	a291b686-5cc5-4e06-82fe-27e38cd997dc	g.chr15:40655853G>A	ENST00000267889.3	+	2	234	c.147G>A	c.(145-147)gaG>gaA	p.E49E		NM_033510.1	NP_277045.1	A7MBM2	DISP2_HUMAN	dispatched homolog 2 (Drosophila)	49					smoothened signaling pathway	integral to membrane				breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)	30		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)		TGCCCCCTGAGGCAAGCCCAG	0.622													28	120					0	0	1	0	0	A	40655853	G	A	40655853	2	1	484	1	0	0	0	0	0	0	0	1	4568	991	35	2		2	DISP2	15	40655853	Silent	SNP	G	TCGA-TQ-A7RO-01A-11D-A33T-08		40655853	61875539	27	37284											
IDH2	3418	broad.mit.edu	37	15	90631838	90631838	+	Missense_Mutation	SNP	C	C	T	rs121913503		TCGA-TQ-A7RO-01A-11D-A33T-08	TCGA-TQ-A7RO-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cf5c481-732a-40a6-a557-2c2a837d7ed9	a291b686-5cc5-4e06-82fe-27e38cd997dc	g.chr15:90631838C>T	ENST00000330062.3	-	4	628	c.515G>A	c.(514-516)aGg>aAg	p.R172K	IDH2_ENST00000559482.1_Intron|IDH2_ENST00000539790.1_Missense_Mutation_p.R42K|IDH2_ENST00000540499.2_Missense_Mutation_p.R120K	NM_002168.2	NP_002159.2	P48735	IDHP_HUMAN	isocitrate dehydrogenase 2 (NADP+), mitochondrial	172					2-oxoglutarate metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding	p.R172K(116)|p.R172M(21)|p.R172N(1)		biliary_tract(11)|bone(19)|central_nervous_system(107)|endometrium(1)|haematopoietic_and_lymphoid_tissue(953)|large_intestine(8)|lung(5)|skin(5)	1109	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.106)			ATGGGCGTGCCTGCCAATGGT	0.632			M		GBM								44	43					0	0	1	0	0	T	90631838	C	T	90631838	3	4	484	1	0	0	0	0	1	0	0	0	7539	681	24	2	875	2	IDH2	15	90631838	Missense_Mutation	SNP	C	TCGA-TQ-A7RO-01A-11D-A33T-08	49975985	90631838	11899554	28	37285											
MLST8	64223	broad.mit.edu	37	16	2258498	2258498	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RO-01A-11D-A33T-08	TCGA-TQ-A7RO-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cf5c481-732a-40a6-a557-2c2a837d7ed9	a291b686-5cc5-4e06-82fe-27e38cd997dc	g.chr16:2258498C>T	ENST00000569417.1	+	8	1100	c.746C>T	c.(745-747)aCg>aTg	p.T249M	MLST8_ENST00000564088.1_Missense_Mutation_p.T249M|MLST8_ENST00000382450.4_Missense_Mutation_p.T248M|MLST8_ENST00000565250.1_Missense_Mutation_p.T249M|MLST8_ENST00000397124.1_Missense_Mutation_p.T249M|MLST8_ENST00000301725.7_3'UTR|MLST8_ENST00000301724.10_Missense_Mutation_p.T249M	NM_022372.4	NP_071767.3	Q9BVC4	LST8_HUMAN	MTOR associated protein, LST8 homolog (S. cerevisiae)	249					insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|T cell costimulation	cytosol	protein binding			large_intestine(3)|lung(2)|skin(1)	6						ATCTGGAGGACGTCCAACTTC	0.662													7	195					0	0	1	0	0	T	2258498	C	T	2258498	3	4	484	1	0	0	0	0	1	0	0	0	9682	536	19	1	772	1	MLST8	16	2258498	Missense_Mutation	SNP	C	TCGA-TQ-A7RO-01A-11D-A33T-08		2258498	88096255	29	37286											
SLC5A11	115584	broad.mit.edu	37	16	24918463	24918463	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RO-01A-11D-A33T-08	TCGA-TQ-A7RO-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cf5c481-732a-40a6-a557-2c2a837d7ed9	a291b686-5cc5-4e06-82fe-27e38cd997dc	g.chr16:24918463G>A	ENST00000347898.3	+	12	1854	c.1232G>A	c.(1231-1233)cGg>cAg	p.R411Q	SLC5A11_ENST00000424767.2_Missense_Mutation_p.R376Q|SLC5A11_ENST00000449109.2_Missense_Mutation_p.R255Q|SLC5A11_ENST00000565769.1_Missense_Mutation_p.R347Q|SLC5A11_ENST00000545376.1_Missense_Mutation_p.R341Q|SLC5A11_ENST00000539472.1_Missense_Mutation_p.R347Q|SLC5A11_ENST00000568579.1_Missense_Mutation_p.R341Q|SLC5A11_ENST00000567758.1_Missense_Mutation_p.R376Q|SLC5A11_ENST00000569071.1_Missense_Mutation_p.R255Q	NM_052944.3	NP_443176.2	Q8WWX8	SC5AB_HUMAN	solute carrier family 5 (sodium/inositol cotransporter), member 11	411					apoptosis|carbohydrate transport|sodium ion transport	integral to membrane|plasma membrane	polyol transmembrane transporter activity|symporter activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(30)|ovary(2)|prostate(2)|urinary_tract(1)	49				GBM - Glioblastoma multiforme(48;0.0365)		CTCCGGCCTCGGGCATCTGAG	0.597													110	164					0	0	1	0	0	A	24918463	G	A	24918463	3	1	484	1	0	0	0	0	1	0	0	0	14718	1116	39	1	1274	1	SLC5A11	16	24918463	Missense_Mutation	SNP	G	TCGA-TQ-A7RO-01A-11D-A33T-08	22659965	24918463	65436290	30	37287											
KRT20	54474	broad.mit.edu	37	17	39041252	39041252	+	Silent	SNP	G	G	A			TCGA-TQ-A7RO-01A-11D-A33T-08	TCGA-TQ-A7RO-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cf5c481-732a-40a6-a557-2c2a837d7ed9	a291b686-5cc5-4e06-82fe-27e38cd997dc	g.chr17:39041252G>A	ENST00000167588.3	-	1	227	c.186C>T	c.(184-186)ggC>ggT	p.G62G		NM_019010.2	NP_061883.1	P35900	K1C20_HUMAN	keratin 20	62	Head.				apoptosis|intermediate filament organization	Golgi apparatus|intermediate filament	protein binding|structural constituent of cytoskeleton			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(1)	14		Breast(137;0.000301)|Ovarian(249;0.15)				ACAGGTCCCCGCCGCCTGTGA	0.577													4	180					0	0	1	0	0	A	39041252	G	A	39041252	2	1	484	1	0	0	0	0	0	0	0	1	8501	1074	38	1		1	KRT20	17	39041252	Silent	SNP	G	TCGA-TQ-A7RO-01A-11D-A33T-08		39041252	42153958	31	37288											
UNK	85451	broad.mit.edu	37	17	73814838	73814838	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RO-01A-11D-A33T-08	TCGA-TQ-A7RO-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cf5c481-732a-40a6-a557-2c2a837d7ed9	a291b686-5cc5-4e06-82fe-27e38cd997dc	g.chr17:73814838G>A	ENST00000293218.3	+	12	1715	c.1715G>A	c.(1714-1716)gGc>gAc	p.G572D	UNK_ENST00000589666.1_Missense_Mutation_p.G496D			Q9C0B0	UNK_HUMAN	unkempt family zinc finger	496							nucleic acid binding|zinc ion binding			cervix(3)|endometrium(8)|kidney(2)|large_intestine(5)|lung(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	25			all cancers(21;2.61e-06)|Epithelial(20;7.39e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|LUSC - Lung squamous cell carcinoma(166;0.154)			AGCGTCCCCGGCATGAATGCA	0.597													4	61					0	0	1	0	0	A	73814838	G	A	73814838	3	1	484	1	0	0	0	0	1	0	0	0	17060	1203	42	2	1761	2	UNK	17	73814838	Missense_Mutation	SNP	G	TCGA-TQ-A7RO-01A-11D-A33T-08	34773586	73814838	7380372	32	37289											
ARHGAP33	115703	broad.mit.edu	37	19	36271878	36271878	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RO-01A-11D-A33T-08	TCGA-TQ-A7RO-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cf5c481-732a-40a6-a557-2c2a837d7ed9	a291b686-5cc5-4e06-82fe-27e38cd997dc	g.chr19:36271878C>T	ENST00000007510.4	+	11	1030	c.886C>T	c.(886-888)Cgc>Tgc	p.R296C	ARHGAP33_ENST00000378944.5_Missense_Mutation_p.R160C|ARHGAP33_ENST00000314737.5_Missense_Mutation_p.R296C			O14559	RHG33_HUMAN	Rho GTPase activating protein 33	296					cell communication|protein transport|signal transduction	intracellular	GTPase activator activity|phosphatidylinositol binding|protein binding			endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	37						CATGCGCTCCCGCCCTTCTCG	0.667													4	93					0	0	1	0	0	T	36271878	C	T	36271878	3	4	484	1	0	0	0	0	1	0	0	0	879	652	23	1	928	1	ARHGAP33	19	36271878	Missense_Mutation	SNP	C	TCGA-TQ-A7RO-01A-11D-A33T-08		36271878	22857105	33	37290											
CIC	23152	broad.mit.edu	37	19	42791718	42791718	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RO-01A-11D-A33T-08	TCGA-TQ-A7RO-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cf5c481-732a-40a6-a557-2c2a837d7ed9	a291b686-5cc5-4e06-82fe-27e38cd997dc	g.chr19:42791718C>T	ENST00000572681.2	+	6	3399	c.3331C>T	c.(3331-3333)Cgg>Tgg	p.R1111W	CIC_ENST00000575354.2_Missense_Mutation_p.R202W|CIC_ENST00000160740.3_Missense_Mutation_p.R202W			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	202	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	p.R202W(1)		autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CCACATCCGGCGGCCCATGAA	0.622			"Mis, F, S"		oligodendroglioma								41	30					0	0	1	0	0	T	42791718	C	T	42791718	3	4	484	1	0	0	0	0	1	0	0	0	3446	759	27	1	622	1	CIC	19	42791718	Missense_Mutation	SNP	C	TCGA-TQ-A7RO-01A-11D-A33T-08	6519840	42791718	16337265	34	37291											
AURKA	6790	broad.mit.edu	37	20	54945296	54945296	+	Missense_Mutation	SNP	A	A	T			TCGA-TQ-A7RO-01A-11D-A33T-08	TCGA-TQ-A7RO-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cf5c481-732a-40a6-a557-2c2a837d7ed9	a291b686-5cc5-4e06-82fe-27e38cd997dc	g.chr20:54945296A>T	ENST00000395909.4	-	11	1695	c.1130T>A	c.(1129-1131)gTa>gAa	p.V377E	AURKA_ENST00000395915.3_Missense_Mutation_p.V377E|AURKA_ENST00000371356.2_Missense_Mutation_p.V377E|AURKA_ENST00000395911.1_Missense_Mutation_p.V377E|AURKA_ENST00000395914.1_Missense_Mutation_p.V377E|AURKA_ENST00000395913.3_Missense_Mutation_p.V377E|AURKA_ENST00000347343.2_Missense_Mutation_p.V377E|AURKA_ENST00000312783.6_Missense_Mutation_p.V377E|AURKA_ENST00000395907.1_3'UTR	NM_198433.1	NP_940835.1	O14965	AURKA_HUMAN	aurora kinase A	377	Protein kinase.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|phosphatidylinositol-mediated signaling|regulation of protein stability|spindle organization	cytosol|nucleus|perinuclear region of cytoplasm|spindle microtubule|spindle pole centrosome	ATP binding|protein kinase binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(1)|large_intestine(4)|lung(9)|ovary(2)|prostate(1)|skin(2)	22			Colorectal(105;0.202)			GTGTTCAAGTACTTCTCTGAG	0.453													6	351					0	0	1	0	0	T	54945296	A	T	54945296	3	4	484	1	0	0	0	0	1	0	0	0	1219	391	14	5	85	5	AURKA	20	54945296	Missense_Mutation	SNP	A	TCGA-TQ-A7RO-01A-11D-A33T-08		54945296	8080224	35	37292											
MORC2	22880	broad.mit.edu	37	22	31332565	31332565	+	Missense_Mutation	SNP	T	T	C			TCGA-TQ-A7RO-01A-11D-A33T-08	TCGA-TQ-A7RO-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cf5c481-732a-40a6-a557-2c2a837d7ed9	a291b686-5cc5-4e06-82fe-27e38cd997dc	g.chr22:31332565T>C	ENST00000397641.3	-	17	2078	c.1670A>G	c.(1669-1671)cAg>cGg	p.Q557R	MORC2_ENST00000469915.1_5'UTR|MORC2_ENST00000215862.4_Missense_Mutation_p.Q495R			Q9Y6X9	MORC2_HUMAN	MORC family CW-type zinc finger 2								ATP binding|zinc ion binding			breast(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	21						CTTCTCTTCCTGCGTCTTCAT	0.517													104	156					0	0	1	0	0	C	31332565	T	C	31332565	3	2	484	1	0	0	0	0	1	0	0	0	9751	1580	55	3	1468	3	MORC2	22	31332565	Missense_Mutation	SNP	T	TCGA-TQ-A7RO-01A-11D-A33T-08		31332565	19972001	36	37293											
TST	7263	broad.mit.edu	37	22	37414310	37414310	+	Missense_Mutation	SNP	G	G	T			TCGA-TQ-A7RO-01A-11D-A33T-08	TCGA-TQ-A7RO-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cf5c481-732a-40a6-a557-2c2a837d7ed9	a291b686-5cc5-4e06-82fe-27e38cd997dc	g.chr22:37414310G>T	ENST00000403892.3	-	1	1198	c.464C>A	c.(463-465)gCc>gAc	p.A155D	TST_ENST00000249042.3_Missense_Mutation_p.A155D	NM_001270483.1	NP_001257412.1	Q16762	THTR_HUMAN	thiosulfate sulfurtransferase (rhodanese)	155	Hinge.				cyanate catabolic process|rRNA transport	mitochondrial matrix|plasma membrane	5S rRNA binding|thiosulfate sulfurtransferase activity			kidney(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)|urinary_tract(1)	7						GTCCAGTGTGGCTTTGAAGAC	0.597													25	52					2.48779e-11	2.57826e-11	1	1	0	T	37414310	G	T	37414310	3	4	484	1	0	0	0	0	1	0	0	0	16734	1203	42	5	437	5	TST	22	37414310	Missense_Mutation	SNP	G	TCGA-TQ-A7RO-01A-11D-A33T-08	6081745	37414310	13890256	37	37294											
ATG4A	115201	broad.mit.edu	37	X	107381181	107381181	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RO-01A-11D-A33T-08	TCGA-TQ-A7RO-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cf5c481-732a-40a6-a557-2c2a837d7ed9	a291b686-5cc5-4e06-82fe-27e38cd997dc	g.chrX:107381181G>A	ENST00000372232.3	+	8	854	c.695G>A	c.(694-696)gGc>gAc	p.G232D	ATG4A_ENST00000372254.3_Missense_Mutation_p.G208D|ATG4A_ENST00000545696.1_Intron|ATG4A_ENST00000345734.3_Intron	NM_052936.3	NP_443168.2	Q8WYN0	ATG4A_HUMAN	autophagy related 4A, cysteine peptidase	232					autophagy|protein transport|proteolysis	cytoplasm	cysteine-type peptidase activity	p.G232D(2)		endometrium(3)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)	11						CTTCGCCTGGGCATAAACCAA	0.522													5	295					0	0	1	0	0	A	107381181	G	A	107381181	3	1	484	1	0	0	0	0	1	0	0	0	1095	1203	42	2	725	2	ATG4A	23	107381181	Missense_Mutation	SNP	G	TCGA-TQ-A7RO-01A-11D-A33T-08		107381181	47889379	38	37295											
LUZP4	51213	broad.mit.edu	37	X	114541285	114541285	+	Missense_Mutation	SNP	T	T	G			TCGA-TQ-A7RO-01A-11D-A33T-08	TCGA-TQ-A7RO-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cf5c481-732a-40a6-a557-2c2a837d7ed9	a291b686-5cc5-4e06-82fe-27e38cd997dc	g.chrX:114541285T>G	ENST00000371920.3	+	4	865	c.858T>G	c.(856-858)gaT>gaG	p.D286E	LUZP4_ENST00000451986.2_Missense_Mutation_p.D204E	NM_016383.3	NP_057467.1	Q9P127	LUZP4_HUMAN	leucine zipper protein 4	286						nucleus				endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	14						CTGAGAGAGATCTCATAAATC	0.418													4	135					0	0	1	0	0	G	114541285	T	G	114541285	3	3	484	1	0	0	0	0	1	0	0	0	9133	1432	50	4	872	4	LUZP4	23	114541285	Missense_Mutation	SNP	T	TCGA-TQ-A7RO-01A-11D-A33T-08	7160104	114541285	40729275	39	37296											
HNRNPCL1	343069	broad.mit.edu	37	1	12908038	12908038	+	Silent	SNP	C	C	T			TCGA-TQ-A7RP-01A-21D-A34A-08	TCGA-TQ-A7RP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e657c6c-2788-4c2f-b9e9-767d234ee760	6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab	g.chr1:12908038C>T	ENST00000317869.6	-	2	330	c.105G>A	c.(103-105)gcG>gcA	p.A35A		NM_001013631.1|NM_001136561.2|NM_001146181.1	NP_001013653.1|NP_001130033.2|NP_001139653.1			heterogeneous nuclear ribonucleoprotein C-like 1									p.A35A(1)		NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2)	29						TGGAAAAGATCGCCTCCACAT	0.473													7	173					0	0	1	0	0	T	12908038	C	T	12908038	2	4	485	1	0	0	0	0	0	0	0	1	7304	871	31	1		1	HNRNPCL1	1	12908038	Silent	SNP	C	TCGA-TQ-A7RP-01A-21D-A34A-08		12908038	236342583	1	37297											
COL9A2	1298	broad.mit.edu	37	1	40781308	40781308	+	Frame_Shift_Del	DEL	G	G	-			TCGA-TQ-A7RP-01A-21D-A34A-08	TCGA-TQ-A7RP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e657c6c-2788-4c2f-b9e9-767d234ee760	6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab	g.chr1:40781308delG	ENST00000372748.3	-	2	200	c.104delC	c.(103-105)ccgfs	p.P35fs		NM_001852.3	NP_001843.1	Q14055	CO9A2_HUMAN	collagen, type IX, alpha 2	35	Triple-helical region 4 (COL4).				axon guidance|skeletal system development	collagen type IX				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(4)|stomach(2)|urinary_tract(2)	22	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.08e-17)			CGGGGGACCCGGGGGGCCCCG	0.682													2	4	---	---	---	---						-	40781308	G	-	40781308	7	5	485	1	0	1	0	1	0	0	0	0	3731	1116	39	0	2089	0	COL9A2	1	40781308	Frame_Shift_Del	DEL	G	TCGA-TQ-A7RP-01A-21D-A34A-08	27873270	40781308	208469313	2	37298											
KIAA1804	84451	broad.mit.edu	37	1	233518415	233518415	+	Silent	SNP	C	C	T			TCGA-TQ-A7RP-01A-21D-A34A-08	TCGA-TQ-A7RP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e657c6c-2788-4c2f-b9e9-767d234ee760	6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab	g.chr1:233518415C>T	ENST00000366624.3	+	10	3330	c.3069C>T	c.(3067-3069)agC>agT	p.S1023S	MLK4_ENST00000366622.1_Silent_p.S469S	NM_032435.2	NP_115811.2																					GCAAAACCAGCCGGCCATCTA	0.423													4	51					0	0	1	0	0	T	233518415	C	T	233518415	2	4	485	1	0	0	0	0	0	0	0	1	8301	738	26	2		2	KIAA1804	1	233518415	Silent	SNP	C	TCGA-TQ-A7RP-01A-21D-A34A-08	192737107	233518415	15732206	3	37299											
RYR2	6262	broad.mit.edu	37	1	237729966	237729966	+	Missense_Mutation	SNP	T	T	C			TCGA-TQ-A7RP-01A-21D-A34A-08	TCGA-TQ-A7RP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e657c6c-2788-4c2f-b9e9-767d234ee760	6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab	g.chr1:237729966T>C	ENST00000366574.2	+	28	3631	c.3314T>C	c.(3313-3315)tTt>tCt	p.F1105S	RYR2_ENST00000360064.6_Missense_Mutation_p.F1103S|RYR2_ENST00000542537.1_Missense_Mutation_p.F1089S	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1105	4 X approximate repeats.|B30.2/SPRY 2.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TATTTTGAATTTGAGACGGTC	0.557													22	151					0	0	1	0	0	C	237729966	T	C	237729966	3	2	485	1	0	0	0	0	1	0	0	0	13821	1841	64	3	3424	3	RYR2	1	237729966	Missense_Mutation	SNP	T	TCGA-TQ-A7RP-01A-21D-A34A-08	4211551	237729966	11520655	4	37300											
SOS1	6654	broad.mit.edu	37	2	39234309	39234309	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RP-01A-21D-A34A-08	TCGA-TQ-A7RP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e657c6c-2788-4c2f-b9e9-767d234ee760	6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab	g.chr2:39234309C>T	ENST00000426016.1	-	17	2622	c.2536G>A	c.(2536-2538)Gaa>Aaa	p.E846K	SOS1_ENST00000395038.2_Missense_Mutation_p.E846K|SOS1_ENST00000402219.2_Missense_Mutation_p.E846K			Q07889	SOS1_HUMAN	son of sevenless homolog 1 (Drosophila)	846	Ras-GEF.		E -> K (in NS4).		apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	DNA binding|protein binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	p.E846K(1)		autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	75		all_hematologic(82;0.21)				ACTCTTTCTTCTAAATTTTCA	0.308									Noonan syndrome				13	124					0	0	1	0	0	T	39234309	C	T	39234309	3	4	485	1	0	0	0	0	1	0	0	0	14990	922	32	2	1497	2	SOS1	2	39234309	Missense_Mutation	SNP	C	TCGA-TQ-A7RP-01A-21D-A34A-08		39234309	203965064	5	37301											
CRYGA	1418	broad.mit.edu	37	2	209027942	209027942	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RP-01A-21D-A34A-08	TCGA-TQ-A7RP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e657c6c-2788-4c2f-b9e9-767d234ee760	6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab	g.chr2:209027942G>A	ENST00000304502.4	-	2	257	c.238C>T	c.(238-240)Cgt>Tgt	p.R80C		NM_014617.3	NP_055432.2			crystallin, gamma A											endometrium(1)|kidney(3)|large_intestine(1)|lung(7)	12				Epithelial(149;0.067)|LUSC - Lung squamous cell carcinoma(261;0.0708)|Lung(261;0.135)		GGAATTATACGGCAGGATTGG	0.493													9	49					0	0	1	0	0	A	209027942	G	A	209027942	3	1	485	1	0	0	0	0	1	0	0	0	3937	1116	39	1	294	1	CRYGA	2	209027942	Missense_Mutation	SNP	G	TCGA-TQ-A7RP-01A-21D-A34A-08	169793633	209027942	34171431	6	37302											
SETMAR	6419	broad.mit.edu	37	3	4355487	4355488	+	Frame_Shift_Ins	INS	-	-	G			TCGA-TQ-A7RP-01A-21D-A34A-08	TCGA-TQ-A7RP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e657c6c-2788-4c2f-b9e9-767d234ee760	6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab	g.chr3:4355487_4355488insG	ENST00000430981.1	+	2	1072_1073	c.1062_1063insG	c.(1063-1065)ggafs	p.G355fs	SUMF1_ENST00000534863.1_Intron|SETMAR_ENST00000358065.4_Intron|SETMAR_ENST00000425863.1_Intron	NM_001276325.1	NP_001263254.1	Q53H47	SETMR_HUMAN	SET domain and mariner transposase fusion gene	0	Mariner transposase Hsmar1.				DNA integration|DNA repair|transposition, DNA-mediated	chromosome|nucleus	DNA binding|endonuclease activity|histone-lysine N-methyltransferase activity|transposase activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)	9		Melanoma(143;0.0657)		Epithelial(13;0.0025)|OV - Ovarian serous cystadenocarcinoma(96;0.011)|all cancers(10;0.0114)		CTCCCTATAGTGGAAGACAGTG	0.505								Chromatin Structure					7	37	---	---	---	---						G	4355488	-	G	4355487	7	5	485	1	0	1	1	0	0	0	0	0	14194	1711	59	0		0	SETMAR	3	4355487	Frame_Shift_Ins	INS	-	TCGA-TQ-A7RP-01A-21D-A34A-08		4355487	193666943	7	37303											
TOP2B	7155	broad.mit.edu	37	3	25670393	25670393	+	Silent	SNP	G	G	A			TCGA-TQ-A7RP-01A-21D-A34A-08	TCGA-TQ-A7RP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e657c6c-2788-4c2f-b9e9-767d234ee760	6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab	g.chr3:25670393G>A	ENST00000435706.2	-	15	2037	c.1836C>T	c.(1834-1836)gaC>gaT	p.D612D	TOP2B_ENST00000264331.4_Silent_p.D617D			Q02880	TOP2B_HUMAN	topoisomerase (DNA) II beta 180kDa	617					DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|resolution of meiotic recombination intermediates|sister chromatid segregation	cytosol|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex|WINAC complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|skin(2)|stomach(1)	36						TTTTCCATTCGTCAAATTCAG	0.264													4	60					0	0	1	0	0	A	25670393	G	A	25670393	2	1	485	1	0	0	0	0	0	0	0	1	16427	1136	40	1		1	TOP2B	3	25670393	Silent	SNP	G	TCGA-TQ-A7RP-01A-21D-A34A-08	21314906	25670393	172352037	8	37304											
CACNA2D3	55799	broad.mit.edu	37	3	54615867	54615867	+	Missense_Mutation	SNP	A	A	G			TCGA-TQ-A7RP-01A-21D-A34A-08	TCGA-TQ-A7RP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e657c6c-2788-4c2f-b9e9-767d234ee760	6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab	g.chr3:54615867A>G	ENST00000474759.1	+	9	974	c.926A>G	c.(925-927)aAt>aGt	p.N309S	CACNA2D3_ENST00000490478.1_Missense_Mutation_p.N215S|CACNA2D3_ENST00000415676.2_Missense_Mutation_p.N309S|CACNA2D3_ENST00000288197.5_Missense_Mutation_p.N309S	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3	309	VWFA.					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		CCTTGCCTGAATGGAACTTTG	0.448													3	38					0	0	1	0	0	G	54615867	A	G	54615867	3	3	485	1	0	0	0	0	1	0	0	0	2568	101	4	3	960	3	CACNA2D3	3	54615867	Missense_Mutation	SNP	A	TCGA-TQ-A7RP-01A-21D-A34A-08	28945474	54615867	143406563	9	37305											
B4GALT4	8702	broad.mit.edu	37	3	118935161	118935161	+	Silent	SNP	C	C	T			TCGA-TQ-A7RP-01A-21D-A34A-08	TCGA-TQ-A7RP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e657c6c-2788-4c2f-b9e9-767d234ee760	6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab	g.chr3:118935161C>T	ENST00000467604.1	-	7	1219	c.828G>A	c.(826-828)cgG>cgA	p.R276R	B4GALT4_ENST00000460321.1_5'UTR|B4GALT4_ENST00000483209.1_Silent_p.R276R|B4GALT4_ENST00000359213.3_Silent_p.R276R|B4GALT4_ENST00000471675.1_Intron|B4GALT4_ENST00000393765.2_Silent_p.R276R			O60513	B4GT4_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 4	276					membrane lipid metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	metal ion binding|N-acetyllactosamine synthase activity			breast(2)|endometrium(1)|large_intestine(1)|lung(6)|skin(2)|stomach(2)	14				GBM - Glioblastoma multiforme(114;0.222)	N-Acetyl-D-glucosamine(DB00141)	CAGGCAGGGGCCGGGAAATTT	0.418													10	73					0	0	1	0	0	T	118935161	C	T	118935161	2	4	485	1	0	0	0	0	0	0	0	1	1271	726	26	2		2	B4GALT4	3	118935161	Silent	SNP	C	TCGA-TQ-A7RP-01A-21D-A34A-08	64319294	118935161	79087269	10	37306											
DNAJC13	23317	broad.mit.edu	37	3	132207208	132207208	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RP-01A-21D-A34A-08	TCGA-TQ-A7RP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e657c6c-2788-4c2f-b9e9-767d234ee760	6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab	g.chr3:132207208G>A	ENST00000260818.6	+	30	3582	c.3334G>A	c.(3334-3336)Gat>Aat	p.D1112N		NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	1112							heat shock protein binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						TATCATGCAAGATAACCCACA	0.373													13	69					0	0	1	0	0	A	132207208	G	A	132207208	3	1	485	1	0	0	0	0	1	0	0	0	4659	942	33	2	3448	2	DNAJC13	3	132207208	Missense_Mutation	SNP	G	TCGA-TQ-A7RP-01A-21D-A34A-08	13272047	132207208	65815222	11	37307											
EIF4A2	1974	broad.mit.edu	37	3	186501416	186501416	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RP-01A-21D-A34A-08	TCGA-TQ-A7RP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e657c6c-2788-4c2f-b9e9-767d234ee760	6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab	g.chr3:186501416C>T	ENST00000323963.5	+	1	81	c.17C>T	c.(16-18)gCg>gTg	p.A6V	EIF4A2_ENST00000440191.2_Missense_Mutation_p.A6V|RP11-573D15.9_ENST00000577781.1_RNA|EIF4A2_ENST00000356531.5_5'UTR			Q14240	IF4A2_HUMAN	eukaryotic translation initiation factor 4A2	6					interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	ATP binding|ATP-dependent helicase activity|protein binding|translation initiation factor activity			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|urinary_tract(1)	28	all_cancers(143;2.68e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.07e-20)	GBM - Glioblastoma multiforme(93;0.0704)		GGTGGCTCCGCGGATTATAAC	0.567			T	BCL6	NHL								4	113					0	0	1	0	0	T	186501416	C	T	186501416	3	4	485	1	0	0	0	0	1	0	0	0	5053	768	27	1	19	1	EIF4A2	3	186501416	Missense_Mutation	SNP	C	TCGA-TQ-A7RP-01A-21D-A34A-08	54294208	186501416	11521014	12	37308											
ATP13A3	79572	broad.mit.edu	37	3	194154513	194154513	+	Missense_Mutation	SNP	C	C	T	rs138465420	by1000genomes	TCGA-TQ-A7RP-01A-21D-A34A-08	TCGA-TQ-A7RP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e657c6c-2788-4c2f-b9e9-767d234ee760	6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab	g.chr3:194154513C>T	ENST00000439040.1	-	21	3024	c.2233G>A	c.(2233-2235)Gtc>Atc	p.V745I	ATP13A3_ENST00000256031.4_Missense_Mutation_p.V745I			Q9H7F0	AT133_HUMAN	ATPase type 13A3	745					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	24	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)		GTGACCATGACGGTGCGAATG	0.348													15	103					0	0	1	0	0	T	194154513	C	T	194154513	3	4	485	1	0	0	0	0	1	0	0	0	1124	536	19	1	1499	1	ATP13A3	3	194154513	Missense_Mutation	SNP	C	TCGA-TQ-A7RP-01A-21D-A34A-08	7653097	194154513	3867917	13	37309											
SH3TC1	54436	broad.mit.edu	37	4	8218826	8218826	+	Silent	SNP	G	G	A			TCGA-TQ-A7RP-01A-21D-A34A-08	TCGA-TQ-A7RP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e657c6c-2788-4c2f-b9e9-767d234ee760	6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab	g.chr4:8218826G>A	ENST00000539824.1	+	7	917	c.543G>A	c.(541-543)ccG>ccA	p.P181P	SH3TC1_ENST00000245105.3_Silent_p.P257P			Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	257							binding			NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						CTTCACCGCCGAGCCCCAGCG	0.672													7	27					0	0	1	0	0	A	8218826	G	A	8218826	2	1	485	1	0	0	0	0	0	0	0	1	14316	1045	37	1		1	SH3TC1	4	8218826	Silent	SNP	G	TCGA-TQ-A7RP-01A-21D-A34A-08		8218826	182935450	14	37310											
HS3ST1	9957	broad.mit.edu	37	4	11401216	11401216	+	Silent	SNP	C	C	T			TCGA-TQ-A7RP-01A-21D-A34A-08	TCGA-TQ-A7RP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e657c6c-2788-4c2f-b9e9-767d234ee760	6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab	g.chr4:11401216C>T	ENST00000002596.5	-	2	1588	c.414G>A	c.(412-414)ccG>ccA	p.P138P		NM_005114.2	NP_005105.1	O14792	HS3S1_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 1	138						Golgi lumen|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|skin(3)	15						GCCGGATGGACGGGTTCATGC	0.592													5	47					0	0	1	0	0	T	11401216	C	T	11401216	2	4	485	1	0	0	0	0	0	0	0	1	7404	523	19	1		1	HS3ST1	4	11401216	Silent	SNP	C	TCGA-TQ-A7RP-01A-21D-A34A-08	3182390	11401216	179753060	15	37311											
GPRIN3	285513	broad.mit.edu	37	4	90171145	90171145	+	Silent	SNP	G	G	A			TCGA-TQ-A7RP-01A-21D-A34A-08	TCGA-TQ-A7RP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e657c6c-2788-4c2f-b9e9-767d234ee760	6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab	g.chr4:90171145G>A	ENST00000609438.1	-	2	635	c.117C>T	c.(115-117)ctC>ctT	p.L39L	GPRIN3_ENST00000333209.4_Silent_p.L39L	NM_198281.2	NP_938022.2	Q6ZVF9	GRIN3_HUMAN	GPRIN family member 3				L -> V (in dbSNP:rs11734353).							breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|prostate(2)|skin(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)		TCTTACACAGGAGAGCTGGTC	0.557													4	69					0	0	1	0	0	A	90171145	G	A	90171145	2	1	485	1	0	0	0	0	0	0	0	1	6772	1161	41	2		2	GPRIN3	4	90171145	Silent	SNP	G	TCGA-TQ-A7RP-01A-21D-A34A-08	78769929	90171145	100983131	16	37312											
ADAMTS16	170690	broad.mit.edu	37	5	5242305	5242305	+	Splice_Site	SNP	G	G	A			TCGA-TQ-A7RP-01A-21D-A34A-08	TCGA-TQ-A7RP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e657c6c-2788-4c2f-b9e9-767d234ee760	6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab	g.chr5:5242305G>A	ENST00000274181.7	+	17	2800		c.e17+1			NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16						proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						TGCGGAGGGGGTAGGTGCCTT	0.627													5	33					0	0	1	0	0	A	5242305	G	A	5242305	5	1	485	1	0	0	0	0	0	0	1	0	260	1275	44	2	2729	2	ADAMTS16	5	5242305	Splice_Site	SNP	G	TCGA-TQ-A7RP-01A-21D-A34A-08		5242305	175672955	17	37313											
PCDHGA1	56114	broad.mit.edu	37	5	140712371	140712371	+	Missense_Mutation	SNP	T	T	G			TCGA-TQ-A7RP-01A-21D-A34A-08	TCGA-TQ-A7RP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e657c6c-2788-4c2f-b9e9-767d234ee760	6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab	g.chr5:140712371T>G	ENST00000517417.1	+	1	2120	c.2120T>G	c.(2119-2121)tTc>tGc	p.F707C	PCDHGA1_ENST00000378105.3_Missense_Mutation_p.F707C	NM_018912.2	NP_061735.1														breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCCTGGCCTTCGTCATCGTG	0.662													5	151					0	0	1	0	0	G	140712371	T	G	140712371	3	3	485	1	0	0	0	0	1	0	0	0	11597	1783	62	5	2122	5	PCDHGA1	5	140712371	Missense_Mutation	SNP	T	TCGA-TQ-A7RP-01A-21D-A34A-08	135470066	140712371	40202889	18	37314											
DSP	1832	broad.mit.edu	37	6	7579661	7579661	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RP-01A-21D-A34A-08	TCGA-TQ-A7RP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e657c6c-2788-4c2f-b9e9-767d234ee760	6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab	g.chr6:7579661G>A	ENST00000379802.3	+	23	3579	c.3238G>A	c.(3238-3240)Gag>Aag	p.E1080K	DSP_ENST00000418664.2_Missense_Mutation_p.E1080K	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	1080	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		TGCGAGCCTGGAGGAGCTGAA	0.478													4	63					0	0	1	0	0	A	7579661	G	A	7579661	3	1	485	1	0	0	0	0	1	0	0	0	4807	1175	41	2	3328	2	DSP	6	7579661	Missense_Mutation	SNP	G	TCGA-TQ-A7RP-01A-21D-A34A-08		7579661	163535406	19	37315											
C6orf25	80739	broad.mit.edu	37	6	31691585	31691585	+	Silent	SNP	C	C	A			TCGA-TQ-A7RP-01A-21D-A34A-08	TCGA-TQ-A7RP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e657c6c-2788-4c2f-b9e9-767d234ee760	6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab	g.chr6:31691585C>A	ENST00000375809.3	+	2	242	c.231C>A	c.(229-231)ctC>ctA	p.L77L	C6orf25_ENST00000375810.4_Silent_p.L77L|C6orf25_ENST00000375805.2_Silent_p.L77L|C6orf25_ENST00000480039.1_Silent_p.L77L	NM_025260.3|NM_138272.2|NM_138277.2	NP_079536.2|NP_612116.1|NP_612121.1	O95866	G6B_HUMAN	chromosome 6 open reading frame 25	77						endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	heparin binding|receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)	9						TGCCTCCCCTCCAGCCTTTCG	0.687													6	83					3.59834e-05	3.81642e-05	1	1	0	A	31691585	C	A	31691585	2	1	485	1	0	0	0	0	0	0	0	1	2374	842	30	5		5	C6orf25	6	31691585	Silent	SNP	C	TCGA-TQ-A7RP-01A-21D-A34A-08	24111924	31691585	139423482	20	37316											
COQ3	51805	broad.mit.edu	37	6	99817677	99817680	+	Frame_Shift_Del	DEL	TGTT	TGTT	-	rs112847497		TCGA-TQ-A7RP-01A-21D-A34A-08	TCGA-TQ-A7RP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e657c6c-2788-4c2f-b9e9-767d234ee760	6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab	g.chr6:99817677_99817680delTGTT	ENST00000254759.3	-	7	930_933	c.906_909delAACA	c.(904-909)caaacafs	p.QT302fs	COQ3_ENST00000369240.1_Frame_Shift_Del_p.QT74fs|COQ3_ENST00000369242.1_Frame_Shift_Del_p.QT74fs	NM_017421.3	NP_059117.3	Q9NZJ6	COQ3_HUMAN	coenzyme Q3 methyltransferase	302					glycerol metabolic process|ubiquinone biosynthetic process	mitochondrial matrix	2-polyprenyl-6-methoxy-1,4-benzoquinone methyltransferase activity|3-demethylubiquinone-9 3-O-methyltransferase activity|hexaprenyldihydroxybenzoate methyltransferase activity			cervix(1)|lung(5)|upper_aerodigestive_tract(2)	8		all_cancers(76;1.24e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.00716)|Colorectal(196;0.0691)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.0625)		TTCCTACCACTGTTTGAACTGACA	0.368													9	198	---	---	---	---						-	99817680	TGTT	-	99817677	7	5	485	1	0	1	0	1	0	0	0	0	3769	1567	55	0	204	0	COQ3	6	99817677	Frame_Shift_Del	DEL	TGTT	TCGA-TQ-A7RP-01A-21D-A34A-08	68126092	99817677	71297390	21	37317											
CAMK2B	816	broad.mit.edu	37	7	44323782	44323782	+	Silent	SNP	G	G	A			TCGA-TQ-A7RP-01A-21D-A34A-08	TCGA-TQ-A7RP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e657c6c-2788-4c2f-b9e9-767d234ee760	6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab	g.chr7:44323782G>A	ENST00000395749.2	-	2	184	c.108C>T	c.(106-108)acC>acT	p.T36T	CAMK2B_ENST00000395747.2_Silent_p.T36T|CAMK2B_ENST00000353625.4_Silent_p.T36T|CAMK2B_ENST00000440254.2_Silent_p.T36T|CAMK2B_ENST00000258682.6_Silent_p.T36T|CAMK2B_ENST00000358707.3_Silent_p.T36T|CAMK2B_ENST00000347193.4_Silent_p.T36T|CAMK2B_ENST00000502837.2_5'UTR|CAMK2B_ENST00000457475.1_Silent_p.T36T|CAMK2B_ENST00000346990.4_Silent_p.T36T|CAMK2B_ENST00000350811.3_Silent_p.T36T	NM_001220.4	NP_001211.3	Q13554	KCC2B_HUMAN	calcium/calmodulin-dependent protein kinase II beta	36	Protein kinase.				interferon-gamma-mediated signaling pathway|synaptic transmission	cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)	18						ACTCATGGCCGGTGCAGAGCT	0.587													3	30					0	0	1	0	0	A	44323782	G	A	44323782	2	1	485	1	0	0	0	0	0	0	0	1	2618	1103	39	1		1	CAMK2B	7	44323782	Silent	SNP	G	TCGA-TQ-A7RP-01A-21D-A34A-08		44323782	114814881	22	37318											
MYO1G	64005	broad.mit.edu	37	7	45007262	45007262	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RP-01A-21D-A34A-08	TCGA-TQ-A7RP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e657c6c-2788-4c2f-b9e9-767d234ee760	6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab	g.chr7:45007262G>A	ENST00000258787.7	-	14	1860	c.1724C>T	c.(1723-1725)aCg>aTg	p.T575M		NM_033054.2	NP_149043.2	B0I1T2	MYO1G_HUMAN	myosin IG	575	Myosin head-like.					myosin complex|plasma membrane	actin binding|ATP binding|calmodulin binding|motor activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|skin(4)	28						TGTGCCAGCCGTCAGGGGGCG	0.622													11	61					0	0	1	0	0	A	45007262	G	A	45007262	3	1	485	1	0	0	0	0	1	0	0	0	10122	1145	40	1	1368	1	MYO1G	7	45007262	Missense_Mutation	SNP	G	TCGA-TQ-A7RP-01A-21D-A34A-08	683480	45007262	114131401	23	37319											
EGFR	1956	broad.mit.edu	37	7	55221710	55221710	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RP-01A-21D-A34A-08	TCGA-TQ-A7RP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e657c6c-2788-4c2f-b9e9-767d234ee760	6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab	g.chr7:55221710C>T	ENST00000275493.2	+	7	931	c.754C>T	c.(754-756)Cgc>Tgc	p.R252C	EGFR_ENST00000455089.1_Missense_Mutation_p.R207C|EGFR_ENST00000442591.1_Missense_Mutation_p.R252C|EGFR_ENST00000342916.3_Missense_Mutation_p.R252C|EGFR_ENST00000344576.2_Missense_Mutation_p.R252C|EGFR_ENST00000420316.2_Missense_Mutation_p.R252C|EGFR_ENST00000454757.2_Missense_Mutation_p.R199C	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	252					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.R252C(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	ATAGGTCTGCCGCAAATTCCG	0.582		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			5	60					0	0	1	0	0	T	55221710	C	T	55221710	3	4	485	1	0	0	0	0	1	0	0	0	4993	652	23	1	780	1	EGFR	7	55221710	Missense_Mutation	SNP	C	TCGA-TQ-A7RP-01A-21D-A34A-08	10214448	55221710	103916953	24	37320											
TRIM24	8805	broad.mit.edu	37	7	138223421	138223421	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RP-01A-21D-A34A-08	TCGA-TQ-A7RP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e657c6c-2788-4c2f-b9e9-767d234ee760	6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab	g.chr7:138223421G>A	ENST00000343526.4	+	7	1231	c.1016G>A	c.(1015-1017)cGc>cAc	p.R339H	TRIM24_ENST00000415680.2_Missense_Mutation_p.R339H|TRIM24_ENST00000497516.1_3'UTR			O15164	TIF1A_HUMAN	tripartite motif containing 24	339					cellular response to estrogen stimulus|protein catabolic process|regulation of apoptosis|regulation of protein stability|transcription from RNA polymerase II promoter	cytoplasm	chromatin binding|estrogen response element binding|histone acetyl-lysine binding|p53 binding|transcription coactivator activity|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(5)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	40						AAGGACCATCGCATGAAACTT	0.388													4	116					0	0	1	0	0	A	138223421	G	A	138223421	3	1	485	1	0	0	0	0	1	0	0	0	16559	1087	38	1	1042	1	TRIM24	7	138223421	Missense_Mutation	SNP	G	TCGA-TQ-A7RP-01A-21D-A34A-08	83001711	138223421	20915242	25	37321											
TMUB1	83590	broad.mit.edu	37	7	150779522	150779522	+	Silent	SNP	C	C	T			TCGA-TQ-A7RP-01A-21D-A34A-08	TCGA-TQ-A7RP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e657c6c-2788-4c2f-b9e9-767d234ee760	6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab	g.chr7:150779522C>T	ENST00000392818.3	-	2	486	c.129G>A	c.(127-129)ccG>ccA	p.P43P	TMUB1_ENST00000297533.4_Silent_p.P43P|TMUB1_ENST00000476627.1_Silent_p.P43P|TMUB1_ENST00000482202.1_Silent_p.P43P|TMUB1_ENST00000462940.1_Silent_p.P43P	NM_031434.3	NP_113622.1	Q9BVT8	TMUB1_HUMAN	transmembrane and ubiquitin-like domain containing 1	43						cytoplasm|integral to membrane|nucleus				endometrium(1)|lung(1)	2			OV - Ovarian serous cystadenocarcinoma(82;0.00989)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GGGTCCCTGACGGCTGGGGCA	0.677													20	82					0	0	1	0	0	T	150779522	C	T	150779522	2	4	485	1	0	0	0	0	0	0	0	1	16324	523	19	1		1	TMUB1	7	150779522	Silent	SNP	C	TCGA-TQ-A7RP-01A-21D-A34A-08	12556101	150779522	8359141	26	37322											
PCMTD1	115294	broad.mit.edu	37	8	52746176	52746176	+	Nonsense_Mutation	SNP	G	G	A			TCGA-TQ-A7RP-01A-21D-A34A-08	TCGA-TQ-A7RP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e657c6c-2788-4c2f-b9e9-767d234ee760	6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab	g.chr8:52746176G>A	ENST00000360540.5	-	5	890	c.484C>T	c.(484-486)Cga>Tga	p.R162*	PCMTD1_ENST00000544451.1_Nonsense_Mutation_p.R86*|PCMTD1_ENST00000519559.1_5'UTR|PCMTD1_ENST00000522514.1_Nonsense_Mutation_p.R162*	NM_052937.2	NP_443169.2	Q96MG8	PCMD1_HUMAN	protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1	162						cytoplasm	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity			NS(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(17)|prostate(2)|skin(8)|soft_tissue(1)	37		Lung NSC(129;0.0795)|all_lung(136;0.144)				CAATAAATTCGATCATACTGA	0.363													7	75					0	0	1	0	0	A	52746176	G	A	52746176	4	1	485	1	0	0	0	0	0	1	0	0	11633	1066	37	1	601	1	PCMTD1	8	52746176	Nonsense_Mutation	SNP	G	TCGA-TQ-A7RP-01A-21D-A34A-08		52746176	93617846	27	37323											
PREX2	80243	broad.mit.edu	37	8	68956801	68956801	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RP-01A-21D-A34A-08	TCGA-TQ-A7RP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e657c6c-2788-4c2f-b9e9-767d234ee760	6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab	g.chr8:68956801G>A	ENST00000288368.4	+	8	1196	c.919G>A	c.(919-921)Gtg>Atg	p.V307M	PREX2_ENST00000529398.1_3'UTR	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	307	PH.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						GGTGATGGAAGTGGAGAATGT	0.418													8	78					0	0	1	0	0	A	68956801	G	A	68956801	3	1	485	1	0	0	0	0	1	0	0	0	12529	1029	36	2	949	2	PREX2	8	68956801	Missense_Mutation	SNP	G	TCGA-TQ-A7RP-01A-21D-A34A-08	16210625	68956801	77407221	28	37324											
RECQL4	9401	broad.mit.edu	37	8	145742489	145742489	+	Missense_Mutation	SNP	C	C	A			TCGA-TQ-A7RP-01A-21D-A34A-08	TCGA-TQ-A7RP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e657c6c-2788-4c2f-b9e9-767d234ee760	6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab	g.chr8:145742489C>A	ENST00000428558.2	-	4	340	c.299G>T	c.(298-300)gGc>gTc	p.G100V	RECQL4_ENST00000532237.1_5'UTR	NM_004260.3	NP_004251.3	O94761	RECQ4_HUMAN	RecQ protein-like 4	100					DNA duplex unwinding|DNA recombination|DNA repair	cytoplasm|nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|DNA strand annealing activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-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;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			CGGCACCGAGCCCTGGCGGCT	0.672			"N, F, S"			"osteosarcoma, skin basal and sqamous cell"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Rothmund-Thomson syndrome;RAPADILINO syndrome;Baller-Gerold syndrome				3	19					6.4e-05	6.68657e-05	1	1	0	A	145742489	C	A	145742489	3	1	485	1	0	0	0	0	1	0	0	0	13254	739	26	5	3400	5	RECQL4	8	145742489	Missense_Mutation	SNP	C	TCGA-TQ-A7RP-01A-21D-A34A-08	76785688	145742489	621533	29	37325											
C9orf72	203228	broad.mit.edu	37	9	27565531	27565531	+	Nonsense_Mutation	SNP	G	G	A			TCGA-TQ-A7RP-01A-21D-A34A-08	TCGA-TQ-A7RP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e657c6c-2788-4c2f-b9e9-767d234ee760	6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab	g.chr9:27565531G>A	ENST00000380003.3	-	3	565	c.502C>T	c.(502-504)Cag>Tag	p.Q168*	C9orf72_ENST00000488117.1_5'UTR|C9orf72_ENST00000379997.3_Nonsense_Mutation_p.Q168*	NM_001256054.1|NM_018325.3	NP_001242983.1|NP_060795.1	Q96LT7	CI072_HUMAN	chromosome 9 open reading frame 72	168										breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|ovary(4)|pancreas(1)	23		all_neural(11;7.57e-10)		LUSC - Lung squamous cell carcinoma(38;0.0001)|Lung(218;0.00016)		GCATATACCTGATCTTCCATT	0.353													7	59					0	0	1	0	0	A	27565531	G	A	27565531	4	1	485	1	0	0	0	0	0	1	0	0	2513	1299	45	2	983	2	C9orf72	9	27565531	Nonsense_Mutation	SNP	G	TCGA-TQ-A7RP-01A-21D-A34A-08		27565531	113647900	30	37326											
GNA14	9630	broad.mit.edu	37	9	80046294	80046294	+	Missense_Mutation	SNP	C	C	G			TCGA-TQ-A7RP-01A-21D-A34A-08	TCGA-TQ-A7RP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e657c6c-2788-4c2f-b9e9-767d234ee760	6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab	g.chr9:80046294C>G	ENST00000341700.6	-	4	1049	c.536G>C	c.(535-537)cGa>cCa	p.R179P	GNA14_ENST00000464095.1_5'UTR	NM_004297.3	NP_004288.1	O95837	GNA14_HUMAN	guanine nucleotide binding protein (G protein), alpha 14	179					activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity	p.R179Q(1)		endometrium(3)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	24						GGTGGGCACTCGGACGCGAAG	0.493													12	38					0	0	1	0	0	G	80046294	C	G	80046294	3	3	485	1	0	0	0	0	1	0	0	0	6544	884	31	5	547	5	GNA14	9	80046294	Missense_Mutation	SNP	C	TCGA-TQ-A7RP-01A-21D-A34A-08	52480763	80046294	61167137	31	37327											
PTPDC1	138639	broad.mit.edu	37	9	96859862	96859862	+	Silent	SNP	C	C	T			TCGA-TQ-A7RP-01A-21D-A34A-08	TCGA-TQ-A7RP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e657c6c-2788-4c2f-b9e9-767d234ee760	6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab	g.chr9:96859862C>T	ENST00000375360.3	+	7	1192	c.852C>T	c.(850-852)caC>caT	p.H284H	PTPDC1_ENST00000288976.3_Silent_p.H336H	NM_001253830.1|NM_177995.2	NP_001240759.1|NP_818931.1	A2A3K4	PTPC1_HUMAN	protein tyrosine phosphatase domain containing 1	284							protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	32						TTCTGAAACACGTGCCAAAAA	0.478													9	83					0	0	1	0	0	T	96859862	C	T	96859862	2	4	485	1	0	0	0	0	0	0	0	1	12823	535	19	1		1	PTPDC1	9	96859862	Silent	SNP	C	TCGA-TQ-A7RP-01A-21D-A34A-08	16813568	96859862	44353569	32	37328											
CEL	1056	broad.mit.edu	37	9	135939834	135939834	+	Missense_Mutation	SNP	A	A	G			TCGA-TQ-A7RP-01A-21D-A34A-08	TCGA-TQ-A7RP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e657c6c-2788-4c2f-b9e9-767d234ee760	6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab	g.chr9:135939834A>G	ENST00000372080.4	+	2	135	c.119A>G	c.(118-120)aAt>aGt	p.N40S	CEL_ENST00000351304.7_Missense_Mutation_p.N37S	NM_001807.3	NP_001798.2	P19835	CEL_HUMAN	carboxyl ester lipase	37	Heparin-binding.				cholesterol catabolic process|fatty acid catabolic process|intestinal cholesterol absorption|intestinal lipid catabolic process|pancreatic juice secretion|protein esterification	cytosol|extracellular space	acylglycerol lipase activity|carboxylesterase activity|heparin binding|sterol esterase activity|triglyceride lipase activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|pancreas(2)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196)		GAAGGCGTCAATAAGAAGCTC	0.627													6	57					0	0	1	0	0	G	135939834	A	G	135939834	3	3	485	1	0	0	0	0	1	0	0	0	3231	101	4	3	125	3	CEL	9	135939834	Missense_Mutation	SNP	A	TCGA-TQ-A7RP-01A-21D-A34A-08	39079972	135939834	5273597	33	37329											
C10orf10	11067	broad.mit.edu	37	10	45473358	45473358	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RP-01A-21D-A34A-08	TCGA-TQ-A7RP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e657c6c-2788-4c2f-b9e9-767d234ee760	6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab	g.chr10:45473358C>T	ENST00000298295.3	-	2	338	c.121G>A	c.(121-123)Gtg>Atg	p.V41M	RASSF4_ENST00000472561.1_Intron|RASSF4_ENST00000374417.2_Intron|RASSF4_ENST00000340258.5_Intron|RASSF4_ENST00000334940.6_Intron|C10orf10_ENST00000496638.1_Intron	NM_007021.3	NP_008952.1	Q9NTK1	DEPP_HUMAN	chromosome 10 open reading frame 10	41						mitochondrion				lung(1)	1						ATAGACCTCACGTAGTCATCC	0.662													8	72					0	0	1	0	0	T	45473358	C	T	45473358	3	4	485	1	0	0	0	0	1	0	0	0	1583	536	19	1	521	1	C10orf10	10	45473358	Missense_Mutation	SNP	C	TCGA-TQ-A7RP-01A-21D-A34A-08		45473358	90061389	34	37330											
PTEN	5728	broad.mit.edu	37	10	89717741	89717741	+	Nonsense_Mutation	SNP	G	G	T	rs121909228		TCGA-TQ-A7RP-01A-21D-A34A-08	TCGA-TQ-A7RP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e657c6c-2788-4c2f-b9e9-767d234ee760	6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab	g.chr10:89717741G>T	ENST00000371953.3	+	7	2123	c.766G>T	c.(766-768)Gag>Tag	p.E256*	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	256	C2 tensin-type.				activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.R55fs*1(5)|p.N212fs*1(2)|p.Y27fs*1(2)|p.E256K(2)|p.G165_*404del(1)|p.?(1)|p.D252_K263>AKE(1)|p.K254fs*39(1)|p.E256*(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TATCAAAGTAGAGTTCTTCCA	0.373		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			17	71					5.03518e-11	5.77808e-11	1	1	0	T	89717741	G	T	89717741	4	4	485	1	0	0	0	0	0	1	0	0	12787	943	33	4	792	4	PTEN	10	89717741	Nonsense_Mutation	SNP	G	TCGA-TQ-A7RP-01A-21D-A34A-08	44244383	89717741	45817006	35	37331											
CD81	975	broad.mit.edu	37	11	2416679	2416679	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RP-01A-21D-A34A-08	TCGA-TQ-A7RP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e657c6c-2788-4c2f-b9e9-767d234ee760	6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab	g.chr11:2416679G>A	ENST00000263645.5	+	5	644	c.388G>A	c.(388-390)Gcc>Acc	p.A130T	CD81_ENST00000524805.1_3'UTR|CD81_ENST00000526072.1_Missense_Mutation_p.A59T|CD81_ENST00000492627.1_Missense_Mutation_p.A59T|CD81_ENST00000381036.3_Missense_Mutation_p.A168T|CD81_ENST00000481687.1_Missense_Mutation_p.A136T	NM_004356.3	NP_004347.1	P60033	CD81_HUMAN	CD81 molecule	130					activation of MAPK activity|cell proliferation|phosphatidylinositol biosynthetic process|positive regulation of 1-phosphatidylinositol 4-kinase activity|positive regulation of cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|protein localization|regulation of immune response|virion attachment, binding of host cell surface receptor	integral to plasma membrane	protein binding			endometrium(1)|lung(3)|skin(1)	5		all_epithelial(84;0.000161)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.0137)|Lung NSC(207;0.209)		BRCA - Breast invasive adenocarcinoma(625;0.000338)|LUSC - Lung squamous cell carcinoma(625;0.191)		CTATGACCAGGCCCTACAGCA	0.682													7	36					0	0	1	0	0	A	2416679	G	A	2416679	3	1	485	1	0	0	0	0	1	0	0	0	3061	1203	42	2	406	2	CD81	11	2416679	Missense_Mutation	SNP	G	TCGA-TQ-A7RP-01A-21D-A34A-08		2416679	132589837	36	37332											
OR5T3	390154	broad.mit.edu	37	11	56020078	56020078	+	Missense_Mutation	SNP	G	G	T	rs143584658		TCGA-TQ-A7RP-01A-21D-A34A-08	TCGA-TQ-A7RP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e657c6c-2788-4c2f-b9e9-767d234ee760	6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab	g.chr11:56020078G>T	ENST00000303059.3	+	1	403	c.403G>T	c.(403-405)Gtt>Ttt	p.V135F		NM_001004747.1	NP_001004747.1	Q8NGG3	OR5T3_HUMAN	olfactory receptor, family 5, subfamily T, member 3	135					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	39	Esophageal squamous(21;0.00448)					GCTTCTTTTTGTTACTTTTGG	0.383													13	183					4.3838e-07	4.79478e-07	1	1	0	T	56020078	G	T	56020078	3	4	485	1	0	0	0	0	1	0	0	0	11230	1377	48	5	405	5	OR5T3	11	56020078	Missense_Mutation	SNP	G	TCGA-TQ-A7RP-01A-21D-A34A-08	53603399	56020078	78986438	37	37333											
MS4A4A	51338	broad.mit.edu	37	11	60064771	60064771	+	Silent	SNP	C	C	T			TCGA-TQ-A7RP-01A-21D-A34A-08	TCGA-TQ-A7RP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e657c6c-2788-4c2f-b9e9-767d234ee760	6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab	g.chr11:60064771C>T	ENST00000355131.3	+	4	469	c.246C>T	c.(244-246)atC>atT	p.I82I	MS4A4A_ENST00000337908.4_Silent_p.I101I|MS4A4A_ENST00000532114.1_Silent_p.I101I|MS4A4A_ENST00000395016.3_Silent_p.I82I	NM_024021.3	NP_076926.2	Q96JQ5	M4A4A_HUMAN	membrane-spanning 4-domains, subfamily A, member 4A	101						integral to membrane	receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(12)|prostate(1)|skin(4)	23						CCGTGTATATCGGGTACACAA	0.388													5	91					0	0	1	0	0	T	60064771	C	T	60064771	2	4	485	1	0	0	0	0	0	0	0	1	9911	874	31	1		1	MS4A4A	11	60064771	Silent	SNP	C	TCGA-TQ-A7RP-01A-21D-A34A-08	4044693	60064771	74941745	38	37334											
TMEM225	338661	broad.mit.edu	37	11	123753867	123753867	+	Missense_Mutation	SNP	C	C	T	rs114749572	byFrequency	TCGA-TQ-A7RP-01A-21D-A34A-08	TCGA-TQ-A7RP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e657c6c-2788-4c2f-b9e9-767d234ee760	6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab	g.chr11:123753867C>T	ENST00000375026.2	-	4	872	c.656G>A	c.(655-657)cGt>cAt	p.R219H		NM_001013743.1	NP_001013765.1	Q6GV28	TM225_HUMAN	transmembrane protein 225	219						integral to membrane				endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	28						GGTTACGTGACGTGTTTGGAC	0.418													7	84					0	0	1	0	0	T	123753867	C	T	123753867	3	4	485	1	0	0	0	0	1	0	0	0	16207	536	19	1	25	1	TMEM225	11	123753867	Missense_Mutation	SNP	C	TCGA-TQ-A7RP-01A-21D-A34A-08	63689096	123753867	11252649	39	37335											
RASSF9	9182	broad.mit.edu	37	12	86198645	86198645	+	Silent	SNP	T	T	C			TCGA-TQ-A7RP-01A-21D-A34A-08	TCGA-TQ-A7RP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e657c6c-2788-4c2f-b9e9-767d234ee760	6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab	g.chr12:86198645T>C	ENST00000361228.3	-	2	1511	c.1143A>G	c.(1141-1143)agA>agG	p.R381R		NM_005447.3	NP_005438.2	O75901	RASF9_HUMAN	Ras association (RalGDS/AF-6) domain family (N-terminal) member 9	381					endosome transport|protein targeting|signal transduction	cytosol|endosome|trans-Golgi network transport vesicle membrane	protein binding|transporter activity			endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						ATTCCTTCGCTCTGTTTTCCT	0.418													4	120					0	0	1	0	0	C	86198645	T	C	86198645	2	2	485	1	0	0	0	0	0	0	0	1	13145	1548	54	3		3	RASSF9	12	86198645	Silent	SNP	T	TCGA-TQ-A7RP-01A-21D-A34A-08		86198645	47653250	40	37336											
MRPL42	28977	broad.mit.edu	37	12	93881384	93881384	+	Missense_Mutation	SNP	C	C	A			TCGA-TQ-A7RP-01A-21D-A34A-08	TCGA-TQ-A7RP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e657c6c-2788-4c2f-b9e9-767d234ee760	6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab	g.chr12:93881384C>A	ENST00000549982.1	+	5	492	c.331C>A	c.(331-333)Caa>Aaa	p.Q111K	MRPL42_ENST00000547098.1_Missense_Mutation_p.Q111K|MRPL42_ENST00000393128.4_Missense_Mutation_p.Q111K|MRPL42_ENST00000548545.1_Missense_Mutation_p.Q111K|MRPL42_ENST00000361630.2_Missense_Mutation_p.Q111K|MRPL42_ENST00000552217.1_Missense_Mutation_p.Q111K	NM_014050.3|NM_172177.3	NP_054769.1|NP_751917.1	Q9Y6G3	RM42_HUMAN	mitochondrial ribosomal protein L42	111					translation	mitochondrial small ribosomal subunit	structural constituent of ribosome			breast(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(2)	7						TATGATAGAACAACTTAGCAA	0.378													8	140					0.307466	0.307466	1	1	0	A	93881384	C	A	93881384	3	1	485	1	0	0	0	0	1	0	0	0	9855	479	17	5	369	5	MRPL42	12	93881384	Missense_Mutation	SNP	C	TCGA-TQ-A7RP-01A-21D-A34A-08	7682739	93881384	39970511	41	37337											
DTX1	1840	broad.mit.edu	37	12	113534718	113534718	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RP-01A-21D-A34A-08	TCGA-TQ-A7RP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e657c6c-2788-4c2f-b9e9-767d234ee760	6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab	g.chr12:113534718G>A	ENST00000257600.3	+	9	2340	c.1837G>A	c.(1837-1839)Gta>Ata	p.V613I	DTX1_ENST00000547974.1_3'UTR	NM_004416.2	NP_004407.2	Q86Y01	DTX1_HUMAN	deltex homolog 1 (Drosophila)	613					negative regulation of neuron differentiation|Notch signaling pathway|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter	cytoplasm|nucleus	Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	32						AGCCCAGGGCGTATCCGAGGC	0.632													3	17					0	0	1	0	0	A	113534718	G	A	113534718	3	1	485	1	0	0	0	0	1	0	0	0	4819	1145	40	1	1871	1	DTX1	12	113534718	Missense_Mutation	SNP	G	TCGA-TQ-A7RP-01A-21D-A34A-08	19653334	113534718	20317177	42	37338											
FLT1	2321	broad.mit.edu	37	13	29004260	29004260	+	Nonsense_Mutation	SNP	C	C	A			TCGA-TQ-A7RP-01A-21D-A34A-08	TCGA-TQ-A7RP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e657c6c-2788-4c2f-b9e9-767d234ee760	6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab	g.chr13:29004260C>A	ENST00000282397.4	-	8	1284	c.1033G>T	c.(1033-1035)Gaa>Taa	p.E345*	FLT1_ENST00000539099.1_Nonsense_Mutation_p.E345*|FLT1_ENST00000541932.1_Nonsense_Mutation_p.E345*	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	345	Ig-like C2-type 4.				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	GCTACGGTTTCAAGCACCTGC	0.408													7	55					5.4927e-09	6.20144e-09	1	1	0	A	29004260	C	A	29004260	4	1	485	1	0	0	0	0	0	1	0	0	5974	835	29	5	3338	5	FLT1	13	29004260	Nonsense_Mutation	SNP	C	TCGA-TQ-A7RP-01A-21D-A34A-08		29004260	86165618	43	37339											
CYP11A1	1583	broad.mit.edu	37	15	74659800	74659800	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RP-01A-21D-A34A-08	TCGA-TQ-A7RP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e657c6c-2788-4c2f-b9e9-767d234ee760	6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab	g.chr15:74659800G>A	ENST00000268053.6	-	1	281	c.127C>T	c.(127-129)Cgc>Tgc	p.R43C	CYP11A1_ENST00000467407.1_5'UTR|CYP11A1_ENST00000541301.1_Missense_Mutation_p.R43C	NM_000781.2	NP_000772.2	P05108	CP11A_HUMAN	cytochrome P450, family 11, subfamily A, polypeptide 1	43					C21-steroid hormone biosynthetic process|cholesterol metabolic process|vitamin D metabolic process|xenobiotic metabolic process	mitochondrial matrix	cholesterol monooxygenase (side-chain-cleaving) activity|electron carrier activity|heme binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20					Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Clotrimazole(DB00257)|Digitoxin(DB01396)|Digoxin(DB00390)|Medroxyprogesterone(DB00603)|Ouabain(DB01092)|Progesterone(DB00396)|Testosterone(DB00624)|Trilostane(DB01108)	CGAGGACTGCGGGTGGAGATG	0.617													7	44					0	0	1	0	0	A	74659800	G	A	74659800	3	1	485	1	0	0	0	0	1	0	0	0	4167	1116	39	1	1474	1	CYP11A1	15	74659800	Missense_Mutation	SNP	G	TCGA-TQ-A7RP-01A-21D-A34A-08		74659800	27871592	44	37340											
RRAD	6236	broad.mit.edu	37	16	66956164	66956164	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RP-01A-21D-A34A-08	TCGA-TQ-A7RP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e657c6c-2788-4c2f-b9e9-767d234ee760	6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab	g.chr16:66956164C>T	ENST00000299759.6	-	5	992	c.742G>A	c.(742-744)Gtg>Atg	p.V248M	RRAD_ENST00000420652.1_Missense_Mutation_p.V248M			P55042	RAD_HUMAN	Ras-related associated with diabetes	248					small GTPase mediated signal transduction	plasma membrane	calmodulin binding|GTP binding|GTPase activity			endometrium(2)|kidney(4)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|urinary_tract(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0862)|Epithelial(162;0.198)		ATCTGGCGCACGACACCTTCA	0.607													8	41					0	0	1	0	0	T	66956164	C	T	66956164	3	4	485	1	0	0	0	0	1	0	0	0	13723	536	19	1	188	1	RRAD	16	66956164	Missense_Mutation	SNP	C	TCGA-TQ-A7RP-01A-21D-A34A-08		66956164	23398589	45	37341											
PRDM7	11105	broad.mit.edu	37	16	90130121	90130121	+	Translation_Start_Site	SNP	G	G	A			TCGA-TQ-A7RP-01A-21D-A34A-08	TCGA-TQ-A7RP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e657c6c-2788-4c2f-b9e9-767d234ee760	6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab	g.chr16:90130121G>A	ENST00000407825.1	-	0	426				PRDM7_ENST00000449207.2_Missense_Mutation_p.T136M			Q9NQW5	PRDM7_HUMAN	PR domain containing 7							chromosome|nucleus	nucleic acid binding			lung(2)|ovary(2)|stomach(1)	5		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		TAAATTTGGCGTTCCTGACAA	0.413													6	33					0	0	1	0	0	A	90130121	G	A	90130121	1	1	485	1	0	0	0	0	0	0	0	0	12513	1145	40	1		1	PRDM7	16	90130121	Translation_Start_Site	SNP	G	TCGA-TQ-A7RP-01A-21D-A34A-08	23173957	90130121	224632	46	37342											
POLR2A	5430	broad.mit.edu	37	17	7405004	7405004	+	Missense_Mutation	SNP	A	A	G			TCGA-TQ-A7RP-01A-21D-A34A-08	TCGA-TQ-A7RP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e657c6c-2788-4c2f-b9e9-767d234ee760	6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab	g.chr17:7405004A>G	ENST00000322644.6	+	14	2704	c.2305A>G	c.(2305-2307)Atg>Gtg	p.M769V		NM_000937.4	NP_000928	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	769					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding	p.M769V(1)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				CTTCAAGTCTATGGTCGTGTC	0.483													5	61					0	0	1	0	0	G	7405004	A	G	7405004	3	3	485	1	0	0	0	0	1	0	0	0	12262	449	16	3	2359	3	POLR2A	17	7405004	Missense_Mutation	SNP	A	TCGA-TQ-A7RP-01A-21D-A34A-08		7405004	73790206	47	37343											
NF1	4763	broad.mit.edu	37	17	29586111	29586111	+	Missense_Mutation	SNP	A	A	G			TCGA-TQ-A7RP-01A-21D-A34A-08	TCGA-TQ-A7RP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e657c6c-2788-4c2f-b9e9-767d234ee760	6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab	g.chr17:29586111A>G	ENST00000358273.4	+	33	4777	c.4394A>G	c.(4393-4395)aAt>aGt	p.N1465S	NF1_ENST00000356175.3_Missense_Mutation_p.N1444S	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1465					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(5)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		CGGCCTTTCAATGATTTTGTG	0.333			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			10	63					0	0	1	0	0	G	29586111	A	G	29586111	3	3	485	1	0	0	0	0	1	0	0	0	10403	101	4	3	4585	3	NF1	17	29586111	Missense_Mutation	SNP	A	TCGA-TQ-A7RP-01A-21D-A34A-08	22181107	29586111	51609099	48	37344											
SERPINB10	5273	broad.mit.edu	37	18	61602098	61602098	+	Missense_Mutation	SNP	G	G	C			TCGA-TQ-A7RP-01A-21D-A34A-08	TCGA-TQ-A7RP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e657c6c-2788-4c2f-b9e9-767d234ee760	6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab	g.chr18:61602098G>C	ENST00000238508.3	+	8	875	c.816G>C	c.(814-816)aaG>aaC	p.K272N	AC009802.1_ENST00000599868.1_Splice_Site_p.L13V	NM_005024.1	NP_005015.1			serpin peptidase inhibitor, clade B (ovalbumin), member 10											breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(3)|stomach(2)	24		Esophageal squamous(42;0.131)				CCTATGAGAAGCTGAATGAGT	0.443													5	56					0	0	1	0	0	C	61602098	G	C	61602098	3	2	485	1	0	0	0	0	1	0	0	0	14151	962	34	4	842	4	SERPINB10	18	61602098	Missense_Mutation	SNP	G	TCGA-TQ-A7RP-01A-21D-A34A-08		61602098	16475150	49	37345											
MUC16	94025	broad.mit.edu	37	19	9006762	9006762	+	Silent	SNP	G	G	A			TCGA-TQ-A7RP-01A-21D-A34A-08	TCGA-TQ-A7RP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e657c6c-2788-4c2f-b9e9-767d234ee760	6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab	g.chr19:9006762G>A	ENST00000397910.4	-	44	39689	c.39486C>T	c.(39484-39486)acC>acT	p.T13162T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13164					cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGAGAGGGCCGGTGGCTATAG	0.423													7	102					0	0	1	0	0	A	9006762	G	A	9006762	2	1	485	1	0	0	0	0	0	0	0	1	10021	1103	39	1		1	MUC16	19	9006762	Silent	SNP	G	TCGA-TQ-A7RP-01A-21D-A34A-08		9006762	50122221	50	37346											
ZNF681	148213	broad.mit.edu	37	19	23938242	23938242	+	Missense_Mutation	SNP	T	T	C			TCGA-TQ-A7RP-01A-21D-A34A-08	TCGA-TQ-A7RP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e657c6c-2788-4c2f-b9e9-767d234ee760	6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab	g.chr19:23938242T>C	ENST00000402377.3	-	2	256	c.115A>G	c.(115-117)Aac>Gac	p.N39D	ZNF681_ENST00000395385.3_Intron	NM_138286.2	NP_612143.2	Q96N22	ZN681_HUMAN	zinc finger protein 681	39	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3)	21		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				AAGACCAGGTTTCTGTAGTTC	0.348													4	241					0	0	1	0	0	C	23938242	T	C	23938242	3	2	485	1	0	0	0	0	1	0	0	0	18144	1841	64	3	1834	3	ZNF681	19	23938242	Missense_Mutation	SNP	T	TCGA-TQ-A7RP-01A-21D-A34A-08	14931480	23938242	35190741	51	37347											
COX6B1	1340	broad.mit.edu	37	19	36145573	36145573	+	Splice_Site	SNP	G	G	A			TCGA-TQ-A7RP-01A-21D-A34A-08	TCGA-TQ-A7RP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e657c6c-2788-4c2f-b9e9-767d234ee760	6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab	g.chr19:36145573G>A	ENST00000246554.3	+	3	399	c.207G>A	c.(205-207)tgG>tgA	p.W69*	COX6B1_ENST00000392201.1_Splice_Site_p.W69*|COX6B1_ENST00000592141.1_Splice_Site_p.W69*	NM_001863.4	NP_001854.1	P14854	CX6B1_HUMAN	cytochrome c oxidase subunit VIb polypeptide 1 (ubiquitous)	69					respiratory electron transport chain	mitochondrial inner membrane|mitochondrial intermembrane space	cytochrome-c oxidase activity			lung(6)|prostate(1)|stomach(1)	8	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CCACATCCTGGGTATGTGCCT	0.602													4	53					0	0	1	0	0	A	36145573	G	A	36145573	5	1	485	1	0	0	0	0	0	0	1	0	3799	1246	43	2	213	2	COX6B1	19	36145573	Splice_Site	SNP	G	TCGA-TQ-A7RP-01A-21D-A34A-08	12207331	36145573	22983410	52	37348											
LGALS13	29124	broad.mit.edu	37	19	40095888	40095888	+	Nonsense_Mutation	SNP	C	C	T			TCGA-TQ-A7RP-01A-21D-A34A-08	TCGA-TQ-A7RP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e657c6c-2788-4c2f-b9e9-767d234ee760	6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab	g.chr19:40095888C>T	ENST00000221797.4	+	3	208	c.163C>T	c.(163-165)Cga>Tga	p.R55*		NM_013268.2	NP_037400.1	Q9UHV8	PP13_HUMAN	lectin, galactoside-binding, soluble, 13	55	Galectin.				lipid catabolic process|phospholipid metabolic process		carboxylesterase activity|lysophospholipase activity|sugar binding			lung(5)|ovary(1)|urinary_tract(1)	7	all_cancers(60;1.77e-05)|all_lung(34;5.38e-08)|Lung NSC(34;6.37e-08)|Ovarian(47;0.116)		Epithelial(26;3.28e-26)|OV - Ovarian serous cystadenocarcinoma(5;7.31e-25)|all cancers(26;1.15e-23)|LUSC - Lung squamous cell carcinoma(53;0.00281)			CTTCCGTTTCCGAGTGCACTT	0.498													4	34					0	0	1	0	0	T	40095888	C	T	40095888	4	4	485	1	0	0	0	0	0	1	0	0	8779	644	23	1	173	1	LGALS13	19	40095888	Nonsense_Mutation	SNP	C	TCGA-TQ-A7RP-01A-21D-A34A-08	3950315	40095888	19033095	53	37349											
NLRP5	126206	broad.mit.edu	37	19	56552353	56552353	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RP-01A-21D-A34A-08	TCGA-TQ-A7RP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e657c6c-2788-4c2f-b9e9-767d234ee760	6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab	g.chr19:56552353G>A	ENST00000390649.3	+	11	2852	c.2852G>A	c.(2851-2853)cGg>cAg	p.R951Q		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	951						mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		GTCAGCAACCGGAGCTTGACA	0.567													7	74					0	0	1	0	0	A	56552353	G	A	56552353	3	1	485	1	0	0	0	0	1	0	0	0	10527	1116	39	1	2894	1	NLRP5	19	56552353	Missense_Mutation	SNP	G	TCGA-TQ-A7RP-01A-21D-A34A-08	16456465	56552353	2576630	54	37350											
TMC2	117532	broad.mit.edu	37	20	2621836	2621836	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RP-01A-21D-A34A-08	TCGA-TQ-A7RP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e657c6c-2788-4c2f-b9e9-767d234ee760	6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab	g.chr20:2621836C>T	ENST00000358864.1	+	20	2575	c.2560C>T	c.(2560-2562)Cct>Tct	p.P854S		NM_080751.2	NP_542789.2	Q8TDI7	TMC2_HUMAN	transmembrane channel-like 2	854						integral to membrane				NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						GGCGCAGGGCCCTGGGACCTC	0.587													8	92					0	0	1	0	0	T	2621836	C	T	2621836	3	4	485	1	0	0	0	0	1	0	0	0	16045	623	22	2	2638	2	TMC2	20	2621836	Missense_Mutation	SNP	C	TCGA-TQ-A7RP-01A-21D-A34A-08		2621836	60403684	55	37351											
MXRA5	25878	broad.mit.edu	37	X	3240937	3240937	+	Missense_Mutation	SNP	A	A	T			TCGA-TQ-A7RP-01A-21D-A34A-08	TCGA-TQ-A7RP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e657c6c-2788-4c2f-b9e9-767d234ee760	6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab	g.chrX:3240937A>T	ENST00000217939.6	-	5	2943	c.2789T>A	c.(2788-2790)gTc>gAc	p.V930D		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	930						extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CTTTTCATAGACTGTGTCTAA	0.507													12	29					0	0	1	0	0	T	3240937	A	T	3240937	3	4	485	1	0	0	0	0	1	0	0	0	10051	275	10	5	5709	5	MXRA5	23	3240937	Missense_Mutation	SNP	A	TCGA-TQ-A7RP-01A-21D-A34A-08		3240937	152029623	56	37352											
PHEX	5251	broad.mit.edu	37	X	22095783	22095783	+	Missense_Mutation	SNP	C	C	A			TCGA-TQ-A7RP-01A-21D-A34A-08	TCGA-TQ-A7RP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e657c6c-2788-4c2f-b9e9-767d234ee760	6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab	g.chrX:22095783C>A	ENST00000379374.4	+	5	1191	c.626C>A	c.(625-627)tCc>tAc	p.S209Y	PHEX_ENST00000537599.1_Missense_Mutation_p.S209Y|PHEX_ENST00000535894.1_Missense_Mutation_p.S112Y	NM_000444.4	NP_000435.3	P78562	PHEX_HUMAN	phosphate regulating endopeptidase homolog, X-linked	209					biomineral tissue development|cell-cell signaling|protein modification process|proteolysis|skeletal system development	integral to plasma membrane	aminopeptidase activity|metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(2)|endometrium(2)|large_intestine(12)|liver(1)|lung(19)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	42						TTGTATGTGTCCCCTGATGAC	0.453													14	93					4.3838e-07	4.79478e-07	1	1	0	A	22095783	C	A	22095783	3	1	485	1	0	0	0	0	1	0	0	0	11867	855	30	5	644	5	PHEX	23	22095783	Missense_Mutation	SNP	C	TCGA-TQ-A7RP-01A-21D-A34A-08	18854846	22095783	133174777	57	37353											
DCAF12L2	340578	broad.mit.edu	37	X	125298843	125298843	+	Silent	SNP	C	C	T			TCGA-TQ-A7RP-01A-21D-A34A-08	TCGA-TQ-A7RP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e657c6c-2788-4c2f-b9e9-767d234ee760	6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab	g.chrX:125298843C>T	ENST00000538699.1	-	2	1145	c.1065G>A	c.(1063-1065)tcG>tcA	p.S355S	DCAF12L2_ENST00000360028.2_Silent_p.S355S	NM_001013628.2	NP_001013650.1	Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	355										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						AGAAGCTCAGCGACCGCACGC	0.632													6	36					0	0	1	0	0	T	125298843	C	T	125298843	2	4	485	1	0	0	0	0	0	0	0	1	4289	755	27	1		1	DCAF12L2	23	125298843	Silent	SNP	C	TCGA-TQ-A7RP-01A-21D-A34A-08	103203060	125298843	29971717	58	37354											
ADAR	103	broad.mit.edu	37	1	154600401	154600401	+	Missense_Mutation	SNP	A	A	C			TCGA-TQ-A7RQ-01A-11D-A33T-08	TCGA-TQ-A7RQ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbae2bb-eb36-44ff-ad9e-1aa089cff90b	aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654	g.chr1:154600401A>C	ENST00000292205.5	-	1	73	c.74T>G	c.(73-75)gTg>gGg	p.V25G	ADAR_ENST00000471068.1_Intron|ADAR_ENST00000368471.3_5'UTR	NM_001025107.2|NM_001193495.1	NP_001020278.1|NP_001180424.1	P55265	DSRAD_HUMAN	adenosine deaminase, RNA-specific	0					adenosine to inosine editing|gene silencing by RNA|mRNA modification|mRNA processing|type I interferon-mediated signaling pathway	cytoplasm|nucleolus|nucleoplasm	DNA binding|double-stranded RNA adenosine deaminase activity|metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)		CCCTCCCCCCACCCTCCCCCA	0.642													9	58					0	0	1	0	0	C	154600401	A	C	154600401	3	2	486	1	0	0	0	0	1	0	0	0	280	174	6	5		5	ADAR	1	154600401	Missense_Mutation	SNP	A	TCGA-TQ-A7RQ-01A-11D-A33T-08		154600401	94650220	1	37355											
IGSF8	93185	broad.mit.edu	37	1	160063551	160063551	+	Missense_Mutation	SNP	G	G	T			TCGA-TQ-A7RQ-01A-11D-A33T-08	TCGA-TQ-A7RQ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbae2bb-eb36-44ff-ad9e-1aa089cff90b	aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654	g.chr1:160063551G>T	ENST00000368086.1	-	3	1069	c.853C>A	c.(853-855)Cag>Aag	p.Q285K	IGSF8_ENST00000314485.7_Missense_Mutation_p.Q285K|IGSF8_ENST00000460351.1_5'UTR			Q969P0	IGSF8_HUMAN	immunoglobulin superfamily, member 8	285	Ig-like C2-type 2.				cell proliferation|cellular component movement|nervous system development|single fertilization|skeletal muscle tissue development	integral to membrane	protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(19)|pancreas(1)|prostate(1)|skin(1)	33	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			TCTGCAATCTGGGCCCAGCTG	0.607													3	43					1	1	1	1	0	T	160063551	G	T	160063551	3	4	486	1	0	0	0	0	1	0	0	0	7648	1357	47	5	1004	5	IGSF8	1	160063551	Missense_Mutation	SNP	G	TCGA-TQ-A7RQ-01A-11D-A33T-08	5463150	160063551	89187070	2	37356											
RNPEP	6051	broad.mit.edu	37	1	201958650	201958650	+	Missense_Mutation	SNP	T	T	C			TCGA-TQ-A7RQ-01A-11D-A33T-08	TCGA-TQ-A7RQ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbae2bb-eb36-44ff-ad9e-1aa089cff90b	aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654	g.chr1:201958650T>C	ENST00000295640.4	+	3	771	c.728T>C	c.(727-729)gTt>gCt	p.V243A	RNPEP_ENST00000471105.1_Intron|RNPEP_ENST00000367286.3_Missense_Mutation_p.V243A	NM_020216.3	NP_064601.3	Q9H4A4	AMPB_HUMAN	arginyl aminopeptidase (aminopeptidase B)	243					leukotriene biosynthetic process		epoxide hydrolase activity|zinc ion binding			breast(1)|endometrium(4)|large_intestine(4)|lung(6)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21				KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|Colorectal(1306;0.005)		TCGGCTGAAGTTGGACCCAGG	0.552													11	126					0	0	1	0	0	C	201958650	T	C	201958650	3	2	486	1	0	0	0	0	1	0	0	0	13561	1725	60	3	738	3	RNPEP	1	201958650	Missense_Mutation	SNP	T	TCGA-TQ-A7RQ-01A-11D-A33T-08	41895099	201958650	47291971	3	37357											
ACP1	52	broad.mit.edu	37	2	277249	277249	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RQ-01A-11D-A33T-08	TCGA-TQ-A7RQ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbae2bb-eb36-44ff-ad9e-1aa089cff90b	aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654	g.chr2:277249C>T	ENST00000272067.6	+	6	518	c.422C>T	c.(421-423)aCg>aTg	p.T141M	ACP1_ENST00000272065.5_Missense_Mutation_p.T141M|ACP1_ENST00000484464.1_3'UTR	NM_007099.3	NP_009030.1	P24666	PPAC_HUMAN	acid phosphatase 1, soluble	141						cytoplasm|internal side of plasma membrane|nucleus|soluble fraction	acid phosphatase activity|identical protein binding|non-membrane spanning protein tyrosine phosphatase activity			endometrium(1)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	12	all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.00175)|Lung NSC(108;0.216)|all_epithelial(98;0.236)		all cancers(51;0.000391)|Epithelial(75;0.00281)|OV - Ovarian serous cystadenocarcinoma(76;0.00542)|GBM - Glioblastoma multiforme(21;0.127)		GACTTTGAGACGGTGTACCAG	0.498													76	106					0	0	1	0	0	T	277249	C	T	277249	3	4	486	1	0	0	0	0	1	0	0	0	162	536	19	1	599	1	ACP1	2	277249	Missense_Mutation	SNP	C	TCGA-TQ-A7RQ-01A-11D-A33T-08		277249	242922124	4	37358											
AFTPH	54812	broad.mit.edu	37	2	64778672	64778674	+	In_Frame_Del	DEL	GAT	GAT	-			TCGA-TQ-A7RQ-01A-11D-A33T-08	TCGA-TQ-A7RQ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbae2bb-eb36-44ff-ad9e-1aa089cff90b	aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654	g.chr2:64778672_64778674delGAT	ENST00000422803.1	+	2	378_380	c.64_66delGAT	c.(64-66)gatdel	p.D26del	AFTPH_ENST00000409933.1_In_Frame_Del_p.D26del|AFTPH_ENST00000238855.7_In_Frame_Del_p.D26del|AFTPH_ENST00000238856.4_In_Frame_Del_p.D26del			Q6ULP2	AFTIN_HUMAN	aftiphilin	26					protein transport	AP-1 adaptor complex|cytosol|nucleus	clathrin binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	35						TGGAGCAGAGGATGATGATGATG	0.409													8	304	---	---	---	---						-	64778674	GAT	-	64778672	7	5	486	1	0	1	0	1	0	0	0	0	363	1174	41	0	66	0	AFTPH	2	64778672	In_Frame_Del	DEL	GAT	TCGA-TQ-A7RQ-01A-11D-A33T-08	64501423	64778672	178420701	5	37359											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-TQ-A7RQ-01A-11D-A33T-08	TCGA-TQ-A7RQ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbae2bb-eb36-44ff-ad9e-1aa089cff90b	aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								66	84					0	0	1	0	0	T	209113112	C	T	209113112	3	4	486	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-TQ-A7RQ-01A-11D-A33T-08	144334440	209113112	34086261	6	37360											
CAB39	51719	broad.mit.edu	37	2	231682512	231682512	+	Missense_Mutation	SNP	T	T	C			TCGA-TQ-A7RQ-01A-11D-A33T-08	TCGA-TQ-A7RQ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbae2bb-eb36-44ff-ad9e-1aa089cff90b	aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654	g.chr2:231682512T>C	ENST00000258418.5	+	8	1166	c.737T>C	c.(736-738)aTg>aCg	p.M246T	CAB39_ENST00000409788.3_Missense_Mutation_p.M246T|CAB39_ENST00000410084.3_Missense_Mutation_p.M246T	NM_016289.3	NP_057373.1	Q9Y376	CAB39_HUMAN	calcium binding protein 39	246					cell cycle arrest|insulin receptor signaling pathway|regulation of fatty acid oxidation	cytosol	kinase binding			central_nervous_system(1)|large_intestine(1)|skin(1)	3		all_lung(227;4.63e-07)|all_hematologic(139;1.83e-06)|Lung NSC(271;2.11e-05)|Acute lymphoblastic leukemia(138;5.51e-05)|Hepatocellular(293;0.0207)|Lung SC(224;0.187)		all cancers(144;1.64e-12)|Epithelial(121;5.29e-11)|LUSC - Lung squamous cell carcinoma(224;0.0154)|Lung(119;0.0177)|COAD - Colon adenocarcinoma(134;0.226)		TTCACAATTATGACAAAATAC	0.343													93	101					0	0	1	0	0	C	231682512	T	C	231682512	3	2	486	1	0	0	0	0	1	0	0	0	2543	1464	51	3	763	3	CAB39	2	231682512	Missense_Mutation	SNP	T	TCGA-TQ-A7RQ-01A-11D-A33T-08	22569400	231682512	11516861	7	37361											
LYZL4	131375	broad.mit.edu	37	3	42448742	42448742	+	Translation_Start_Site	SNP	A	A	G			TCGA-TQ-A7RQ-01A-11D-A33T-08	TCGA-TQ-A7RQ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbae2bb-eb36-44ff-ad9e-1aa089cff90b	aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654	g.chr3:42448742A>G	ENST00000287748.3	-	2	277	c.2T>C	c.(1-3)aTg>aCg	p.M1T	LYZL4_ENST00000470991.1_Intron|LYZL4_ENST00000441172.1_Start_Codon_SNP_p.M1T	NM_144634.2	NP_653235.1	Q96KX0	LYZL4_HUMAN	lysozyme-like 4	1					cell wall macromolecule catabolic process	extracellular region	lysozyme activity			central_nervous_system(1)|endometrium(1)|lung(1)	3				KIRC - Kidney renal clear cell carcinoma(284;0.222)		GGATGCCTTCATCTTCTCCAG	0.572													5	59					0	0	1	0	0	G	42448742	A	G	42448742	1	3	486	1	0	0	0	0	0	0	0	0	9179	217	8	3		3	LYZL4	3	42448742	Translation_Start_Site	SNP	A	TCGA-TQ-A7RQ-01A-11D-A33T-08		42448742	155573688	8	37362											
SEC22C	9117	broad.mit.edu	37	3	42594904	42594904	+	Missense_Mutation	SNP	T	T	C			TCGA-TQ-A7RQ-01A-11D-A33T-08	TCGA-TQ-A7RQ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbae2bb-eb36-44ff-ad9e-1aa089cff90b	aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654	g.chr3:42594904T>C	ENST00000264454.3	-	7	891	c.748A>G	c.(748-750)Atg>Gtg	p.M250V	SEC22C_ENST00000417572.1_Intron|SEC22C_ENST00000273156.7_Intron|SEC22C_ENST00000423701.2_Intron|SEC22C_ENST00000536332.1_Intron			Q9BRL7	SC22C_HUMAN	SEC22 vesicle trafficking protein homolog C (S. cerevisiae)	250					ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|integral to membrane				endometrium(1)|large_intestine(2)	3				KIRC - Kidney renal clear cell carcinoma(284;0.222)		ACCACCTTCATAGTCCTGGCT	0.448													31	49					0	0	1	0	0	C	42594904	T	C	42594904	3	2	486	1	0	0	0	0	1	0	0	0	14044	1406	49	3	213	3	SEC22C	3	42594904	Missense_Mutation	SNP	T	TCGA-TQ-A7RQ-01A-11D-A33T-08	146162	42594904	155427526	9	37363											
LRBA	987	broad.mit.edu	37	4	151792590	151792590	+	Silent	SNP	G	G	A			TCGA-TQ-A7RQ-01A-11D-A33T-08	TCGA-TQ-A7RQ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbae2bb-eb36-44ff-ad9e-1aa089cff90b	aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654	g.chr4:151792590G>A	ENST00000535741.1	-	19	2747	c.2274C>T	c.(2272-2274)gtC>gtT	p.V758V	LRBA_ENST00000357115.3_Silent_p.V758V|LRBA_ENST00000510413.1_Silent_p.V758V|LRBA_ENST00000507224.1_Silent_p.V758V			P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	758						endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					GTCCAAGCATGACTTCTGCTT	0.373													33	131					0	0	1	0	0	A	151792590	G	A	151792590	2	1	486	1	0	0	0	0	0	0	0	1	8976	1277	45	2		2	LRBA	4	151792590	Silent	SNP	G	TCGA-TQ-A7RQ-01A-11D-A33T-08		151792590	39361686	10	37364											
AHRR	57491	broad.mit.edu	37	5	428114	428114	+	Missense_Mutation	SNP	G	G	T			TCGA-TQ-A7RQ-01A-11D-A33T-08	TCGA-TQ-A7RQ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbae2bb-eb36-44ff-ad9e-1aa089cff90b	aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654	g.chr5:428114G>T	ENST00000316418.5	+	9	1011	c.967G>T	c.(967-969)Gat>Tat	p.D323Y	AHRR_ENST00000506456.1_Missense_Mutation_p.D161Y|AHRR_ENST00000505113.1_Missense_Mutation_p.D305Y|AHRR_ENST00000512529.1_Missense_Mutation_p.D151Y	NM_020731.4	NP_065782.2	A9YTQ3	AHRR_HUMAN	aryl-hydrocarbon receptor repressor	305					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1)	20			Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)			AGCCACCGCGGATGCAAAGTG	0.587													3	32					1	1	1	1	0	T	428114	G	T	428114	3	4	486	1	0	0	0	0	1	0	0	0	414	1174	41	5	1001	5	AHRR	5	428114	Missense_Mutation	SNP	G	TCGA-TQ-A7RQ-01A-11D-A33T-08		428114	180487146	11	37365											
SLC12A2	6558	broad.mit.edu	37	5	127520188	127520188	+	Missense_Mutation	SNP	A	A	C			TCGA-TQ-A7RQ-01A-11D-A33T-08	TCGA-TQ-A7RQ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbae2bb-eb36-44ff-ad9e-1aa089cff90b	aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654	g.chr5:127520188A>C	ENST00000262461.2	+	25	3619	c.3430A>C	c.(3430-3432)Acc>Ccc	p.T1144P	SLC12A2_ENST00000343225.4_Missense_Mutation_p.T1128P|SLC12A2_ENST00000507791.1_3'UTR	NM_001046.2	NP_001037.1	P55011	S12A2_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 2	1144					potassium ion transport|sodium ion transport|transepithelial ammonium transport|transepithelial chloride transport	integral to plasma membrane|membrane fraction	ammonia transmembrane transporter activity|sodium:potassium:chloride symporter activity			breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		all_cancers(142;0.0972)|Prostate(80;0.151)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	ACTTTATAAGACCAAGGTATT	0.303													11	160					0	0	1	0	0	C	127520188	A	C	127520188	3	2	486	1	0	0	0	0	1	0	0	0	14438	275	10	5	3528	5	SLC12A2	5	127520188	Missense_Mutation	SNP	A	TCGA-TQ-A7RQ-01A-11D-A33T-08	127092074	127520188	53395072	12	37366											
SPINK9	643394	broad.mit.edu	37	5	147715192	147715192	+	Missense_Mutation	SNP	A	A	G			TCGA-TQ-A7RQ-01A-11D-A33T-08	TCGA-TQ-A7RQ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbae2bb-eb36-44ff-ad9e-1aa089cff90b	aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654	g.chr5:147715192A>G	ENST00000377906.1	+	1	71	c.16A>G	c.(16-18)Ata>Gta	p.I6V	RP11-373N22.3_ENST00000501695.3_RNA|SPINK9_ENST00000511717.2_Intron	NM_001040433.1	NP_001035523.1	Q5DT21	ISK9_HUMAN	serine peptidase inhibitor, Kazal type 9	6						extracellular region	protein binding|serine-type endopeptidase inhibitor activity			ovary(1)|urinary_tract(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCAACAGCCATAGTCCTACT	0.478													5	146					0	0	1	0	0	G	147715192	A	G	147715192	3	3	486	1	0	0	0	0	1	0	0	0	15122	217	8	3	18	3	SPINK9	5	147715192	Missense_Mutation	SNP	A	TCGA-TQ-A7RQ-01A-11D-A33T-08	20195004	147715192	33200068	13	37367											
GFOD1	54438	broad.mit.edu	37	6	13365582	13365582	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RQ-01A-11D-A33T-08	TCGA-TQ-A7RQ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbae2bb-eb36-44ff-ad9e-1aa089cff90b	aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654	g.chr6:13365582C>T	ENST00000379287.3	-	2	1230	c.566G>A	c.(565-567)gGc>gAc	p.G189D	GFOD1_ENST00000379284.1_Missense_Mutation_p.G86D	NM_018988.3	NP_061861.1	Q9NXC2	GFOD1_HUMAN	glucose-fructose oxidoreductase domain containing 1	189						extracellular region	binding|oxidoreductase activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)	18	Breast(50;0.0296)|Ovarian(93;0.0454)	all_hematologic(90;0.135)	Epithelial(50;0.0348)|BRCA - Breast invasive adenocarcinoma(129;0.1)|all cancers(50;0.108)			GGCCTTTTGGCCGGTGAGGAA	0.602													4	50					0	0	1	0	0	T	13365582	C	T	13365582	3	4	486	1	0	0	0	0	1	0	0	0	6385	739	26	2	610	2	GFOD1	6	13365582	Missense_Mutation	SNP	C	TCGA-TQ-A7RQ-01A-11D-A33T-08		13365582	157749485	14	37368											
ITPR3	3710	broad.mit.edu	37	6	33656147	33656147	+	Silent	SNP	C	C	T			TCGA-TQ-A7RQ-01A-11D-A33T-08	TCGA-TQ-A7RQ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbae2bb-eb36-44ff-ad9e-1aa089cff90b	aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654	g.chr6:33656147C>T	ENST00000374316.5	+	49	7567	c.6507C>T	c.(6505-6507)agC>agT	p.S2169S	ITPR3_ENST00000605930.1_Silent_p.S2169S			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	2169					activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						GCAAAGTGAGCGACTTCTTCG	0.632													8	87					0	0	1	0	0	T	33656147	C	T	33656147	2	4	486	1	0	0	0	0	0	0	0	1	7966	767	27	1		1	ITPR3	6	33656147	Silent	SNP	C	TCGA-TQ-A7RQ-01A-11D-A33T-08	20290565	33656147	137458920	15	37369											
DNAH8	1769	broad.mit.edu	37	6	38891794	38891794	+	Silent	SNP	G	G	A	rs79890174	byFrequency	TCGA-TQ-A7RQ-01A-11D-A33T-08	TCGA-TQ-A7RQ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbae2bb-eb36-44ff-ad9e-1aa089cff90b	aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654	g.chr6:38891794G>A	ENST00000359357.3	+	71	10421	c.10167G>A	c.(10165-10167)acG>acA	p.T3389T	RP1-207H1.3_ENST00000416948.1_RNA|RP1-207H1.3_ENST00000418399.1_RNA|DNAH8_ENST00000441566.1_Silent_p.T3353T|DNAH8_ENST00000449981.2_Silent_p.T3606T					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TGCTGTGCACGGGATTCCTTT	0.423													6	235					0	0	1	0	0	A	38891794	G	A	38891794	2	1	486	1	0	0	0	0	0	0	0	1	4634	1103	39	1		1	DNAH8	6	38891794	Silent	SNP	G	TCGA-TQ-A7RQ-01A-11D-A33T-08	5235647	38891794	132223273	16	37370											
ZNF292	23036	broad.mit.edu	37	6	87968903	87968903	+	Frame_Shift_Del	DEL	C	C	-			TCGA-TQ-A7RQ-01A-11D-A33T-08	TCGA-TQ-A7RQ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbae2bb-eb36-44ff-ad9e-1aa089cff90b	aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654	g.chr6:87968903delC	ENST00000369577.3	+	8	5599	c.5556delC	c.(5554-5556)gacfs	p.D1852fs	ZNF292_ENST00000339907.4_Frame_Shift_Del_p.D1847fs	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	1852					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		TAGAAAATGACCTATCCACTC	0.378													51	87	---	---	---	---						-	87968903	C	-	87968903	7	5	486	1	0	1	0	1	0	0	0	0	17883	506	18	0	5586	0	ZNF292	6	87968903	Frame_Shift_Del	DEL	C	TCGA-TQ-A7RQ-01A-11D-A33T-08	49077109	87968903	83146164	17	37371											
FLNC	2318	broad.mit.edu	37	7	128478760	128478760	+	Silent	SNP	C	C	T			TCGA-TQ-A7RQ-01A-11D-A33T-08	TCGA-TQ-A7RQ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbae2bb-eb36-44ff-ad9e-1aa089cff90b	aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654	g.chr7:128478760C>T	ENST00000325888.8	+	8	1575	c.1314C>T	c.(1312-1314)tgC>tgT	p.C438C	FLNC_ENST00000346177.6_Silent_p.C438C	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	438					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						CGTTCCGCTGCACATACAGAC	0.642													9	236					0	0	1	0	0	T	128478760	C	T	128478760	2	4	486	1	0	0	0	0	0	0	0	1	5968	718	25	2		2	FLNC	7	128478760	Silent	SNP	C	TCGA-TQ-A7RQ-01A-11D-A33T-08		128478760	30659903	18	37372											
WRN	7486	broad.mit.edu	37	8	30945377	30945379	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-TQ-A7RQ-01A-11D-A33T-08	TCGA-TQ-A7RQ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbae2bb-eb36-44ff-ad9e-1aa089cff90b	aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654	g.chr8:30945377_30945379delAAG	ENST00000298139.5	+	12	1766_1768	c.1517_1519delAAG	c.(1516-1521)aaagaa>aaa	p.E510del		NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like	510	Poly-Glu.				base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding			central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		CTTCCTACTAaagaagaagaaga	0.36			"Mis, N, F, S"			"osteosarcoma, meningioma, others"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome				7	266	---	---	---	---						-	30945379	AAG	-	30945377	7	5	486	1	0	1	0	1	0	0	0	0	17462	14	1	0	1559	0	WRN	8	30945377	In_Frame_Del	DEL	AAG	TCGA-TQ-A7RQ-01A-11D-A33T-08		30945377	115418645	19	37373											
ARHGAP39	80728	broad.mit.edu	37	8	145763155	145763155	+	Missense_Mutation	SNP	T	T	C			TCGA-TQ-A7RQ-01A-11D-A33T-08	TCGA-TQ-A7RQ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbae2bb-eb36-44ff-ad9e-1aa089cff90b	aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654	g.chr8:145763155T>C	ENST00000377307.2	-	6	2648	c.2564A>G	c.(2563-2565)aAg>aGg	p.K855R	ARHGAP39_ENST00000528810.1_5'UTR|ARHGAP39_ENST00000276826.5_Intron|ARHGAP39_ENST00000540274.1_Intron	NM_025251.1	NP_079527.1	Q9C0H5	RHG39_HUMAN	Rho GTPase activating protein 39	840	MyTH4.				axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|nucleus	GTPase activator activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						TTTGGACTTCTTCTTAGTGTT	0.547													68	194					0	0	1	0	0	C	145763155	T	C	145763155	3	2	486	1	0	0	0	0	1	0	0	0	881	1609	56	3	804	3	ARHGAP39	8	145763155	Missense_Mutation	SNP	T	TCGA-TQ-A7RQ-01A-11D-A33T-08	114817778	145763155	600867	20	37374											
TECTB	6975	broad.mit.edu	37	10	114057887	114057887	+	Silent	SNP	C	C	T			TCGA-TQ-A7RQ-01A-11D-A33T-08	TCGA-TQ-A7RQ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbae2bb-eb36-44ff-ad9e-1aa089cff90b	aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654	g.chr10:114057887C>T	ENST00000369422.3	+	7	732	c.732C>T	c.(730-732)ttC>ttT	p.F244F		NM_058222.1	NP_478129.1	Q96PL2	TECTB_HUMAN	tectorin beta	244	ZP.					anchored to membrane|plasma membrane|proteinaceous extracellular matrix				kidney(2)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	19		Colorectal(252;0.198)		Epithelial(162;0.0143)|all cancers(201;0.0242)		GGGCAACCTTCCAATTCAATG	0.522													40	63					0	0	1	0	0	T	114057887	C	T	114057887	2	4	486	1	0	0	0	0	0	0	0	1	15807	854	30	2		2	TECTB	10	114057887	Silent	SNP	C	TCGA-TQ-A7RQ-01A-11D-A33T-08		114057887	21476860	21	37375											
CREBZF	58487	broad.mit.edu	37	11	85375402	85375402	+	Missense_Mutation	SNP	C	C	A			TCGA-TQ-A7RQ-01A-11D-A33T-08	TCGA-TQ-A7RQ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbae2bb-eb36-44ff-ad9e-1aa089cff90b	aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654	g.chr11:85375402C>A	ENST00000527447.1	-	1	744	c.518G>T	c.(517-519)tGc>tTc	p.C173F	CREBZF_ENST00000534224.1_Intron|CREBZF_ENST00000531515.1_Intron|CREBZF_ENST00000398294.2_Missense_Mutation_p.C91F	NM_001039618.2	NP_001034707.1	Q9NS37	ZHANG_HUMAN	CREB/ATF bZIP transcription factor	173					negative regulation of gene expression, epigenetic|negative regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|response to virus	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	9		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)				gctgctgctgcagcctccgat	0.642											OREG0021274	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	49					1	1	1	1	0	A	85375402	C	A	85375402	3	1	486	1	0	0	0	0	1	0	0	0	3886	710	25	5	550	5	CREBZF	11	85375402	Missense_Mutation	SNP	C	TCGA-TQ-A7RQ-01A-11D-A33T-08		85375402	49631114	22	37376											
LCP1	3936	broad.mit.edu	37	13	46718596	46718596	+	Nonsense_Mutation	SNP	G	G	A			TCGA-TQ-A7RQ-01A-11D-A33T-08	TCGA-TQ-A7RQ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbae2bb-eb36-44ff-ad9e-1aa089cff90b	aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654	g.chr13:46718596G>A	ENST00000398576.2	-	14	1622	c.1234C>T	c.(1234-1236)Cga>Tga	p.R412*	LCP1_ENST00000323076.2_Nonsense_Mutation_p.R412*			P13796	PLSL_HUMAN	lymphocyte cytosolic protein 1 (L-plastin)	412	Actin-binding 2.|CH 3.				regulation of intracellular protein transport|T cell activation involved in immune response	cell junction|cytosol|ruffle membrane	calcium ion binding			breast(2)|kidney(1)|large_intestine(6)|lung(18)|ovary(4)|prostate(2)|skin(1)	34		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.39e-05)		TGATTGACTCGAGGGTTAACA	0.418			T	BCL6	NHL								6	215					0	0	1	0	0	A	46718596	G	A	46718596	4	1	486	1	0	0	0	0	0	1	0	0	8730	1066	37	1	673	1	LCP1	13	46718596	Nonsense_Mutation	SNP	G	TCGA-TQ-A7RQ-01A-11D-A33T-08		46718596	68451282	23	37377											
ITPK1	3705	broad.mit.edu	37	14	93483148	93483148	+	Splice_Site	SNP	T	T	C			TCGA-TQ-A7RQ-01A-11D-A33T-08	TCGA-TQ-A7RQ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbae2bb-eb36-44ff-ad9e-1aa089cff90b	aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654	g.chr14:93483148T>C	ENST00000267615.6	-	4	294		c.e4-2		ITPK1_ENST00000555495.1_Splice_Site|ITPK1_ENST00000354313.3_Splice_Site|ITPK1_ENST00000556603.2_Splice_Site|ITPK1_ENST00000556954.1_Splice_Site			Q13572	ITPK1_HUMAN	inositol-tetrakisphosphate 1-kinase						blood coagulation|inositol trisphosphate metabolic process|signal transduction	cytosol	ATP binding|hydrolase activity|inositol tetrakisphosphate 1-kinase activity|inositol-1,3,4-trisphosphate 5/6-kinase activity|isomerase activity|ligase activity|magnesium ion binding	p.?(2)		endometrium(1)|large_intestine(3)|lung(6)|ovary(1)	11		all_cancers(154;0.077)|all_epithelial(191;0.247)		Epithelial(152;0.124)|all cancers(159;0.169)		AAGGTTCAGCTGTGAGGCAGG	0.577													27	57					0	0	1	0	0	C	93483148	T	C	93483148	5	2	486	1	0	0	0	0	0	0	1	0	7960	1594	55	3	1205	3	ITPK1	14	93483148	Splice_Site	SNP	T	TCGA-TQ-A7RQ-01A-11D-A33T-08		93483148	13866392	24	37378											
RYR3	6263	broad.mit.edu	37	15	33840366	33840366	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RQ-01A-11D-A33T-08	TCGA-TQ-A7RQ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbae2bb-eb36-44ff-ad9e-1aa089cff90b	aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654	g.chr15:33840366G>A	ENST00000389232.4	+	9	846	c.776G>A	c.(775-777)cGa>cAa	p.R259Q	RYR3_ENST00000415757.3_Missense_Mutation_p.R259Q	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	259	MIR 3.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GCTGGGACTCGAGCCAGGTCT	0.512													4	25					0	0	1	0	0	A	33840366	G	A	33840366	3	1	486	1	0	0	0	0	1	0	0	0	13822	1058	37	1	810	1	RYR3	15	33840366	Missense_Mutation	SNP	G	TCGA-TQ-A7RQ-01A-11D-A33T-08		33840366	68691026	25	37379											
EIF2AK4	440275	broad.mit.edu	37	15	40257951	40257951	+	Silent	SNP	C	C	T			TCGA-TQ-A7RQ-01A-11D-A33T-08	TCGA-TQ-A7RQ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbae2bb-eb36-44ff-ad9e-1aa089cff90b	aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654	g.chr15:40257951C>T	ENST00000263791.5	+	8	967	c.924C>T	c.(922-924)gtC>gtT	p.V308V	EIF2AK4_ENST00000382727.2_Silent_p.V308V|EIF2AK4_ENST00000559624.1_Silent_p.V308V	NM_001013703.2	NP_001013725.2	Q9P2K8	E2AK4_HUMAN	eukaryotic translation initiation factor 2 alpha kinase 4	308	Protein kinase 1.				translation	cytosolic ribosome	aminoacyl-tRNA ligase activity|ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)	40		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)		GTGGCTTTGTCTTGTTGTATG	0.398													101	110					0	0	1	0	0	T	40257951	C	T	40257951	2	4	486	1	0	0	0	0	0	0	0	1	5025	900	32	2		2	EIF2AK4	15	40257951	Silent	SNP	C	TCGA-TQ-A7RQ-01A-11D-A33T-08	6417585	40257951	62273441	26	37380											
ELMO3	79767	broad.mit.edu	37	16	67235520	67235520	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RQ-01A-11D-A33T-08	TCGA-TQ-A7RQ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbae2bb-eb36-44ff-ad9e-1aa089cff90b	aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654	g.chr16:67235520G>A	ENST00000393997.2	+	10	1109	c.1052G>A	c.(1051-1053)cGg>cAg	p.R351Q	ELMO3_ENST00000360833.1_Missense_Mutation_p.R334Q|ELMO3_ENST00000477898.1_Missense_Mutation_p.R185Q	NM_024712.3	NP_078988.2	Q96BJ8	ELMO3_HUMAN	engulfment and cell motility 3	298	ELMO.				apoptosis|phagocytosis	cytoplasm|cytoskeleton	SH3 domain binding	p.R351Q(2)		cervix(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	18		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00067)|Epithelial(162;0.00442)|all cancers(182;0.0417)		CCGCGCATGCGGACGCCCCTG	0.587													17	98					0	0	1	0	0	A	67235520	G	A	67235520	3	1	486	1	0	0	0	0	1	0	0	0	5095	1116	39	1	1090	1	ELMO3	16	67235520	Missense_Mutation	SNP	G	TCGA-TQ-A7RQ-01A-11D-A33T-08		67235520	23119233	27	37381											
RNF135	84282	broad.mit.edu	37	17	29325786	29325786	+	Nonsense_Mutation	SNP	G	G	A			TCGA-TQ-A7RQ-01A-11D-A33T-08	TCGA-TQ-A7RQ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbae2bb-eb36-44ff-ad9e-1aa089cff90b	aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654	g.chr17:29325786G>A	ENST00000328381.5	+	5	1749	c.876G>A	c.(874-876)tgG>tgA	p.W292*	RNF135_ENST00000443677.2_3'UTR|RNF135_ENST00000535306.2_3'UTR|RNF135_ENST00000324689.4_3'UTR	NM_032322.3	NP_115698.3	Q8IUD6	RN135_HUMAN	ring finger protein 135	292	B30.2/SPRY.				innate immune response|negative regulation of type I interferon production|positive regulation of interferon-beta production|regulation of innate immune response	cytosol	protein binding|ribonucleoprotein binding|ubiquitin-protein ligase activity|zinc ion binding	p.?(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(1)|skin(2)|urinary_tract(1)	10		all_cancers(10;8.65e-08)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Myeloproliferative disorder(56;0.0255)				CCTATCGCTGGAGCTGTGAGA	0.532													8	129					0	0	1	0	0	A	29325786	G	A	29325786	4	1	486	1	0	0	0	0	0	1	0	0	13492	1183	41	2	963	2	RNF135	17	29325786	Nonsense_Mutation	SNP	G	TCGA-TQ-A7RQ-01A-11D-A33T-08		29325786	51869424	28	37382											
IKZF3	22806	broad.mit.edu	37	17	37922280	37922280	+	Silent	SNP	C	C	T			TCGA-TQ-A7RQ-01A-11D-A33T-08	TCGA-TQ-A7RQ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbae2bb-eb36-44ff-ad9e-1aa089cff90b	aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654	g.chr17:37922280C>T	ENST00000346872.3	-	8	1354	c.1293G>A	c.(1291-1293)ccG>ccA	p.P431P	IKZF3_ENST00000394189.2_Silent_p.P249P|IKZF3_ENST00000377958.2_Silent_p.P344P|IKZF3_ENST00000535189.1_Silent_p.P397P|IKZF3_ENST00000351680.3_Silent_p.P392P|IKZF3_ENST00000583368.1_Silent_p.P184P|IKZF3_ENST00000350532.3_Silent_p.P392P|IKZF3_ENST00000377952.2_Silent_p.P210P|IKZF3_ENST00000377944.3_Silent_p.P288P|IKZF3_ENST00000439016.2_Silent_p.P336P|IKZF3_ENST00000377945.3_Silent_p.P297P|IKZF3_ENST00000467757.1_Silent_p.P375P|IKZF3_ENST00000439167.2_Silent_p.P358P|IKZF3_ENST00000346243.3_Silent_p.P353P	NM_012481.4	NP_036613.2	Q9UKT9	IKZF3_HUMAN	IKAROS family zinc finger 3 (Aiolos)	431					B cell activation|mesoderm development|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(6)|large_intestine(4)|liver(1)|lung(13)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42	Breast(7;4.5e-103)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			GGCAGATGGGCGGGGGCTTGA	0.552													17	219					0	0	1	0	0	T	37922280	C	T	37922280	2	4	486	1	0	0	0	0	0	0	0	1	7660	755	27	1		1	IKZF3	17	37922280	Silent	SNP	C	TCGA-TQ-A7RQ-01A-11D-A33T-08	8596494	37922280	43272930	29	37383											
MIER2	54531	broad.mit.edu	37	19	313566	313566	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RQ-01A-11D-A33T-08	TCGA-TQ-A7RQ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbae2bb-eb36-44ff-ad9e-1aa089cff90b	aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654	g.chr19:313566C>T	ENST00000264819.4	-	8	743	c.733G>A	c.(733-735)Gcg>Acg	p.A245T		NM_017550.1	NP_060020.1	Q8N344	MIER2_HUMAN	mesoderm induction early response 1, family member 2	245	ELM2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(10;1.05e-30)|all_epithelial(18;3.04e-19)|Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;2.49e-05)|all_lung(49;4.36e-05)|Breast(49;0.000304)		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)		CGCTTCACCGCCCTGTACAGG	0.637													15	192					0	0	1	0	0	T	313566	C	T	313566	3	4	486	1	0	0	0	0	1	0	0	0	9629	739	26	2	932	2	MIER2	19	313566	Missense_Mutation	SNP	C	TCGA-TQ-A7RQ-01A-11D-A33T-08		313566	58815417	30	37384											
MYO1F	4542	broad.mit.edu	37	19	8587611	8587611	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RQ-01A-11D-A33T-08	TCGA-TQ-A7RQ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbae2bb-eb36-44ff-ad9e-1aa089cff90b	aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654	g.chr19:8587611G>A	ENST00000338257.8	-	26	3224	c.2957C>T	c.(2956-2958)tCc>tTc	p.S986F		NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN	myosin IF	986				IMSGGGTHRPPRGPPSTSLG -> KFIWPRGHPQASPALRP HPWD (in Ref. 5; CAA67058).		unconventional myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						CAGGGATGTGGACGGAGGGCC	0.687													20	25					0	0	1	0	0	A	8587611	G	A	8587611	3	1	486	1	0	0	0	0	1	0	0	0	10121	1174	41	2	351	2	MYO1F	19	8587611	Missense_Mutation	SNP	G	TCGA-TQ-A7RQ-01A-11D-A33T-08	8274045	8587611	50541372	31	37385											
DOCK6	57572	broad.mit.edu	37	19	11352784	11352784	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RQ-01A-11D-A33T-08	TCGA-TQ-A7RQ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbae2bb-eb36-44ff-ad9e-1aa089cff90b	aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654	g.chr19:11352784C>T	ENST00000294618.7	-	14	1591	c.1580G>A	c.(1579-1581)cGg>cAg	p.R527Q		NM_020812.3	NP_065863.2	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	527					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						CTTGGTGGGCCGGCCCCTGGG	0.622													3	36					0	0	1	0	0	T	11352784	C	T	11352784	3	4	486	1	0	0	0	0	1	0	0	0	4718	652	23	1	4703	1	DOCK6	19	11352784	Missense_Mutation	SNP	C	TCGA-TQ-A7RQ-01A-11D-A33T-08	2765173	11352784	47776199	32	37386											
ZNF254	9534	broad.mit.edu	37	19	24310731	24310731	+	Silent	SNP	G	G	A			TCGA-TQ-A7RQ-01A-11D-A33T-08	TCGA-TQ-A7RQ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbae2bb-eb36-44ff-ad9e-1aa089cff90b	aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654	g.chr19:24310731G>A	ENST00000357002.4	+	4	2044	c.1929G>A	c.(1927-1929)tcG>tcA	p.S643S	ZNF254_ENST00000342944.6_Silent_p.S558S	NM_001278661.1|NM_001278662.1|NM_001278664.1|NM_001278677.1|NM_001278678.1|NM_203282.2	NP_001265590.1|NP_001265591.1|NP_001265593.1|NP_001265606.1|NP_001265607.1|NP_975011.3	O75437	ZN254_HUMAN	zinc finger protein 254	643					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)				ATCGGTCCTCGCACCTCACCA	0.373													21	233					0	0	1	0	0	A	24310731	G	A	24310731	2	1	486	1	0	0	0	0	0	0	0	1	17856	1074	38	1		1	ZNF254	19	24310731	Silent	SNP	G	TCGA-TQ-A7RQ-01A-11D-A33T-08	12957947	24310731	34818252	33	37387											
CIC	23152	broad.mit.edu	37	19	42795426	42795450	+	Frame_Shift_Del	DEL	CTTCAGGTGGCACCTGCCCCAGCAC	CTTCAGGTGGCACCTGCCCCAGCAC	-			TCGA-TQ-A7RQ-01A-11D-A33T-08	TCGA-TQ-A7RQ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbae2bb-eb36-44ff-ad9e-1aa089cff90b	aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654	g.chr19:42795426_42795450delCTTCAGGTGGCACCTGCCCCAGCAC	ENST00000572681.2	+	11	5301_5325	c.5233_5257delCTTCAGGTGGCACCTGCCCCAGCAC	c.(5233-5259)cttcaggtggcacctgccccagcaccafs	p.LQVAPAPAP1745fs	CIC_ENST00000575354.2_Frame_Shift_Del_p.LQVAPAPAP836fs|CIC_ENST00000160740.3_Frame_Shift_Del_p.LQVAPAPAP836fs			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	836					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				GCCCCAGCAGCTTCAGGTGGCACCTGCCCCAGCACCAGCCCCTGG	0.667			"Mis, F, S"		oligodendroglioma								18	11	---	---	---	---						-	42795450	CTTCAGGTGGCACCTGCCCCAGCAC	-	42795426	7	5	486	1	0	1	0	1	0	0	0	0	3446	797	28	0	2544	0	CIC	19	42795426	Frame_Shift_Del	DEL	CTTCAGGTGGCACCTGCCCCAGCAC	TCGA-TQ-A7RQ-01A-11D-A33T-08	18484695	42795426	16333557	34	37388											
ASB9	140462	broad.mit.edu	37	X	15268608	15268608	+	Missense_Mutation	SNP	A	A	T			TCGA-TQ-A7RQ-01A-11D-A33T-08	TCGA-TQ-A7RQ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbae2bb-eb36-44ff-ad9e-1aa089cff90b	aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654	g.chrX:15268608A>T	ENST00000546332.1	-	6	995	c.512T>A	c.(511-513)cTc>cAc	p.L171H	ASB9_ENST00000380485.3_Missense_Mutation_p.L171H|ASB9_ENST00000473862.1_5'UTR|ASB9_ENST00000380488.4_Missense_Mutation_p.L171H|ASB9_ENST00000380483.3_Missense_Mutation_p.L161H	NM_001168531.1	NP_001162003.1	Q96DX5	ASB9_HUMAN	ankyrin repeat and SOCS box containing 9	171					intracellular signal transduction					breast(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(10)	15	Hepatocellular(33;0.183)					AGCCAAATAGAGTGGAGTGCC	0.458													9	246					0	0	1	0	0	T	15268608	A	T	15268608	3	4	486	1	0	0	0	0	1	0	0	0	1029	304	11	5	413	5	ASB9	23	15268608	Missense_Mutation	SNP	A	TCGA-TQ-A7RQ-01A-11D-A33T-08		15268608	140001952	35	37389											
BCOR	54880	broad.mit.edu	37	X	39922919	39922919	+	Missense_Mutation	SNP	C	C	A			TCGA-TQ-A7RQ-01A-11D-A33T-08	TCGA-TQ-A7RQ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbae2bb-eb36-44ff-ad9e-1aa089cff90b	aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654	g.chrX:39922919C>A	ENST00000342274.4	-	8	4049	c.3687G>T	c.(3685-3687)gaG>gaT	p.E1229D	BCOR_ENST00000378444.4_Missense_Mutation_p.E1263D|BCOR_ENST00000378455.4_Missense_Mutation_p.E1211D|BCOR_ENST00000397354.3_Missense_Mutation_p.E1229D|BCOR_ENST00000378463.1_Missense_Mutation_p.E106D	NM_001123383.1	NP_001116855.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	1263					heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						TGCCTTTGGCCTCTGCCCTTT	0.567			"F, N, S, T"	RARA	"retinoblastoma, AML, APL(translocation)"		oculo-facio-cardio-dental genetic						145	198					1.81449e-70	2.07371e-70	1	1	0	A	39922919	C	A	39922919	3	1	486	1	0	0	0	0	1	0	0	0	1384	680	24	4	1510	4	BCOR	23	39922919	Missense_Mutation	SNP	C	TCGA-TQ-A7RQ-01A-11D-A33T-08	24654311	39922919	115347641	36	37390											
USP11	8237	broad.mit.edu	37	X	47099838	47099838	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RQ-01A-11D-A33T-08	TCGA-TQ-A7RQ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbae2bb-eb36-44ff-ad9e-1aa089cff90b	aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654	g.chrX:47099838G>A	ENST00000377107.2	+	5	1024	c.670G>A	c.(670-672)Gag>Aag	p.E224K	USP11_ENST00000218348.3_Missense_Mutation_p.E267K			P51784	UBP11_HUMAN	ubiquitin specific peptidase 11	267					protein deubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|ovary(3)|pancreas(1)|stomach(1)	40						TGCGGCCCTTGAGACTGGGCA	0.557													4	92					0	0	1	0	0	A	47099838	G	A	47099838	3	1	486	1	0	0	0	0	1	0	0	0	17102	1291	45	2	817	2	USP11	23	47099838	Missense_Mutation	SNP	G	TCGA-TQ-A7RQ-01A-11D-A33T-08	7176919	47099838	108170722	37	37391											
CDX4	1046	broad.mit.edu	37	X	72667179	72667179	+	Silent	SNP	C	C	T			TCGA-TQ-A7RQ-01A-11D-A33T-08	TCGA-TQ-A7RQ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbae2bb-eb36-44ff-ad9e-1aa089cff90b	aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654	g.chrX:72667179C>T	ENST00000373514.2	+	1	90	c.90C>T	c.(88-90)ggC>ggT	p.G30G		NM_005193.1	NP_005184.1	O14627	CDX4_HUMAN	caudal type homeobox 4	30						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|skin(1)	18	Renal(35;0.156)					CTGGGACAGGCGGCACAGGGG	0.607													41	52					0	0	1	0	0	T	72667179	C	T	72667179	2	4	486	1	0	0	0	0	0	0	0	1	3206	755	27	1		1	CDX4	23	72667179	Silent	SNP	C	TCGA-TQ-A7RQ-01A-11D-A33T-08	25567341	72667179	82603381	38	37392											
IL1RAPL2	26280	broad.mit.edu	37	X	104984645	104984645	+	Missense_Mutation	SNP	A	A	C			TCGA-TQ-A7RQ-01A-11D-A33T-08	TCGA-TQ-A7RQ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbae2bb-eb36-44ff-ad9e-1aa089cff90b	aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654	g.chrX:104984645A>C	ENST00000372582.1	+	8	1765	c.1009A>C	c.(1009-1011)Aat>Cat	p.N337H	IL1RAPL2_ENST00000344799.4_Missense_Mutation_p.N337H|IL1RAPL2_ENST00000485671.1_3'UTR	NM_017416.1	NP_059112.1	Q9NP60	IRPL2_HUMAN	interleukin 1 receptor accessory protein-like 2	337	Ig-like C2-type 3.				central nervous system development|innate immune response	integral to membrane	interleukin-1, Type II, blocking receptor activity			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						TGAAAACCGAAATGGACGGAA	0.378													14	193					0	0	1	0	0	C	104984645	A	C	104984645	3	2	486	1	0	0	0	0	1	0	0	0	7706	14	1	5	1035	5	IL1RAPL2	23	104984645	Missense_Mutation	SNP	A	TCGA-TQ-A7RQ-01A-11D-A33T-08	32317466	104984645	50285915	39	37393											
GPR101	83550	broad.mit.edu	37	X	136113803	136113803	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RQ-01A-11D-A33T-08	TCGA-TQ-A7RQ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbae2bb-eb36-44ff-ad9e-1aa089cff90b	aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654	g.chrX:136113803C>T	ENST00000298110.1	-	1	30	c.31G>A	c.(31-33)Gag>Aag	p.E11K		NM_054021.1	NP_473362.1	Q96P66	GP101_HUMAN	G protein-coupled receptor 101	11						integral to membrane|plasma membrane	G-protein coupled receptor activity			autonomic_ganglia(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(18)|ovary(3)|skin(1)|urinary_tract(1)	42	Acute lymphoblastic leukemia(192;0.000127)					CTGTTACTCTCGCGCGTGCTG	0.632													41	87					0	0	1	0	0	T	136113803	C	T	136113803	3	4	486	1	0	0	0	0	1	0	0	0	6662	893	31	1	1498	1	GPR101	23	136113803	Missense_Mutation	SNP	C	TCGA-TQ-A7RQ-01A-11D-A33T-08	31129158	136113803	19156757	40	37394											
MAGEC1	9947	broad.mit.edu	37	X	140994639	140994641	+	In_Frame_Del	DEL	CTC	CTC	-	rs144357389	byFrequency	TCGA-TQ-A7RQ-01A-11D-A33T-08	TCGA-TQ-A7RQ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbae2bb-eb36-44ff-ad9e-1aa089cff90b	aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654	g.chrX:140994639_140994641delCTC	ENST00000285879.4	+	4	1735_1737	c.1449_1451delCTC	c.(1447-1452)agctcc>agc	p.483_484SS>S	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	483							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TTCCTGTGAGCTCCTCCTCCTCC	0.473										HNSCC(15;0.026)			9	573	---	---	---	---						-	140994641	CTC	-	140994639	7	5	486	1	0	1	0	1	0	0	0	0	9230	796	28	0	1455	0	MAGEC1	23	140994639	In_Frame_Del	DEL	CTC	TCGA-TQ-A7RQ-01A-11D-A33T-08	4880836	140994639	14275921	41	37395											
EMD	2010	broad.mit.edu	37	X	153608123	153608123	+	Silent	SNP	C	C	T			TCGA-TQ-A7RQ-01A-11D-A33T-08	TCGA-TQ-A7RQ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbae2bb-eb36-44ff-ad9e-1aa089cff90b	aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654	g.chrX:153608123C>T	ENST00000369842.4	+	2	444	c.156C>T	c.(154-156)agC>agT	p.S52S	EMD_ENST00000369835.3_Intron|EMD_ENST00000492448.1_3'UTR	NM_000117.2	NP_000108.1	P50402	EMD_HUMAN	emerin	52	Interaction with F-actin (Probable).				cellular response to growth factor stimulus|muscle contraction|muscle organ development|negative regulation of catenin import into nucleus|negative regulation of fibroblast proliferation|positive regulation of protein export from nucleus|regulation of canonical Wnt receptor signaling pathway	endoplasmic reticulum|integral to membrane|microtubule|nuclear inner membrane|nuclear outer membrane	actin binding|beta-tubulin binding			lung(5)	5	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CGCCCCCCAGCTCGTCCGCCG	0.672													61	85					0	0	1	0	0	T	153608123	C	T	153608123	2	4	486	1	0	0	0	0	0	0	0	1	5115	796	28	2		2	EMD	23	153608123	Silent	SNP	C	TCGA-TQ-A7RQ-01A-11D-A33T-08	12613484	153608123	1662437	42	37396											
RAB3GAP2	25782	broad.mit.edu	37	1	220345393	220345393	+	Splice_Site	SNP	T	T	C			TCGA-TQ-A7RR-01A-21D-A34A-08	TCGA-TQ-A7RR-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45405aa2-f77e-413d-8866-04ec7cc569e8	ce743472-4533-4b2c-a3a6-4e9f6cc7a6aa	g.chr1:220345393T>C	ENST00000358951.2	-	23	2533		c.e23-2			NM_012414.3	NP_036546.2	Q9H2M9	RBGPR_HUMAN	RAB3 GTPase activating protein subunit 2 (non-catalytic)						intracellular protein transport	cytoplasm|soluble fraction	GTPase activator activity|protein heterodimerization activity			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(131;0.0443)		CGATGGCCACTATAGGGATAG	0.423													4	49					0	0	1	0	0	C	220345393	T	C	220345393	5	2	487	1	0	0	0	0	0	0	1	0	12988	1536	53	3	1818	3	RAB3GAP2	1	220345393	Splice_Site	SNP	T	TCGA-TQ-A7RR-01A-21D-A34A-08		220345393	28905228	1	37397											
OR2M3	127062	broad.mit.edu	37	1	248367166	248367166	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RR-01A-21D-A34A-08	TCGA-TQ-A7RR-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45405aa2-f77e-413d-8866-04ec7cc569e8	ce743472-4533-4b2c-a3a6-4e9f6cc7a6aa	g.chr1:248367166G>A	ENST00000456743.1	+	1	835	c.797G>A	c.(796-798)cGc>cAc	p.R266H		NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M, member 3	266					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			ACATCTGATCGCTCCCCAACA	0.502													88	172					0	0	1	0	0	A	248367166	G	A	248367166	3	1	487	1	0	0	0	0	1	0	0	0	11059	1087	38	1	799	1	OR2M3	1	248367166	Missense_Mutation	SNP	G	TCGA-TQ-A7RR-01A-21D-A34A-08	28021773	248367166	883455	2	37398											
APOB	338	broad.mit.edu	37	2	21229828	21229828	+	Silent	SNP	C	C	T			TCGA-TQ-A7RR-01A-21D-A34A-08	TCGA-TQ-A7RR-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45405aa2-f77e-413d-8866-04ec7cc569e8	ce743472-4533-4b2c-a3a6-4e9f6cc7a6aa	g.chr2:21229828C>T	ENST00000233242.1	-	26	10039	c.9912G>A	c.(9910-9912)ctG>ctA	p.L3304L		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	3304					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	GAAGGACTGGCAGCTCTAATG	0.433													20	62					0	0	1	0	0	T	21229828	C	T	21229828	2	4	487	1	0	0	0	0	0	0	0	1	782	697	25	2		2	APOB	2	21229828	Silent	SNP	C	TCGA-TQ-A7RR-01A-21D-A34A-08		21229828	221969545	3	37399											
TTN	7273	broad.mit.edu	37	2	179575583	179575583	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RR-01A-21D-A34A-08	TCGA-TQ-A7RR-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45405aa2-f77e-413d-8866-04ec7cc569e8	ce743472-4533-4b2c-a3a6-4e9f6cc7a6aa	g.chr2:179575583G>A	ENST00000589042.1	-	98	28465	c.28241C>T	c.(28240-28242)gCt>gTt	p.A9414V	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.A9097V|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A8170V	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	9097	Ig-like 77.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTCAAAGTCAGCACTTTCTCC	0.502													18	92					0	0	1	0	0	A	179575583	G	A	179575583	3	1	487	1	0	0	0	0	1	0	0	0	16797	971	34	2	76348	2	TTN	2	179575583	Missense_Mutation	SNP	G	TCGA-TQ-A7RR-01A-21D-A34A-08	158345755	179575583	63623790	4	37400											
MYO1B	4430	broad.mit.edu	37	2	192214945	192214945	+	Missense_Mutation	SNP	A	A	C			TCGA-TQ-A7RR-01A-21D-A34A-08	TCGA-TQ-A7RR-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45405aa2-f77e-413d-8866-04ec7cc569e8	ce743472-4533-4b2c-a3a6-4e9f6cc7a6aa	g.chr2:192214945A>C	ENST00000392318.3	+	7	803	c.556A>C	c.(556-558)Agt>Cgt	p.S186R	MYO1B_ENST00000339514.4_Missense_Mutation_p.S186R|MYO1B_ENST00000392316.1_Missense_Mutation_p.S186R|MYO1B_ENST00000304164.4_Missense_Mutation_p.S186R	NM_001130158.1	NP_001123630.1	O43795	MYO1B_HUMAN	myosin IB	186	Myosin head-like.					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|central_nervous_system(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(19)|ovary(1)	55			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)			AGGAGTAATAAGTAACTGTGA	0.313													18	42					0	0	1	0	0	C	192214945	A	C	192214945	3	2	487	1	0	0	0	0	1	0	0	0	10117	72	3	5	578	5	MYO1B	2	192214945	Missense_Mutation	SNP	A	TCGA-TQ-A7RR-01A-21D-A34A-08	12639362	192214945	50984428	5	37401											
ICOS	29851	broad.mit.edu	37	2	204821450	204821450	+	Missense_Mutation	SNP	A	A	G			TCGA-TQ-A7RR-01A-21D-A34A-08	TCGA-TQ-A7RR-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45405aa2-f77e-413d-8866-04ec7cc569e8	ce743472-4533-4b2c-a3a6-4e9f6cc7a6aa	g.chr2:204821450A>G	ENST00000316386.6	+	3	530	c.463A>G	c.(463-465)Att>Gtt	p.I155V	ICOS_ENST00000435193.1_Missense_Mutation_p.I155V	NM_012092.3	NP_036224.1	Q9Y6W8	ICOS_HUMAN	inducible T-cell co-stimulator	155					immune response|T cell costimulation	extracellular region				breast(1)|large_intestine(1)|lung(4)	6						TGTAGTCTGCATTTTGGGATG	0.373													15	206					0	0	1	0	0	G	204821450	A	G	204821450	3	3	487	1	0	0	0	0	1	0	0	0	7530	217	8	3	473	3	ICOS	2	204821450	Missense_Mutation	SNP	A	TCGA-TQ-A7RR-01A-21D-A34A-08	12606505	204821450	38377923	6	37402											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-TQ-A7RR-01A-21D-A34A-08	TCGA-TQ-A7RR-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45405aa2-f77e-413d-8866-04ec7cc569e8	ce743472-4533-4b2c-a3a6-4e9f6cc7a6aa	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								38	72					0	0	1	0	0	T	209113112	C	T	209113112	3	4	487	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-TQ-A7RR-01A-21D-A34A-08	4291662	209113112	34086261	7	37403											
PTH1R	5745	broad.mit.edu	37	3	46940298	46940298	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RR-01A-21D-A34A-08	TCGA-TQ-A7RR-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45405aa2-f77e-413d-8866-04ec7cc569e8	ce743472-4533-4b2c-a3a6-4e9f6cc7a6aa	g.chr3:46940298G>A	ENST00000313049.5	+	7	988	c.785G>A	c.(784-786)cGc>cAc	p.R262H	PTH1R_ENST00000418619.1_Missense_Mutation_p.R262H|PTH1R_ENST00000430002.2_Missense_Mutation_p.R262H|PTH1R_ENST00000449590.1_Missense_Mutation_p.R262H			Q03431	PTH1R_HUMAN	parathyroid hormone 1 receptor	262						cytoplasm|integral to plasma membrane|nucleus	parathyroid hormone receptor activity|peptide hormone binding|protein self-association			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(2)|stomach(1)|urinary_tract(2)	19						GAGGAGCTGCGCGCCATCGCC	0.716													3	15					0	0	1	0	0	A	46940298	G	A	46940298	3	1	487	1	0	0	0	0	1	0	0	0	12808	1087	38	1	811	1	PTH1R	3	46940298	Missense_Mutation	SNP	G	TCGA-TQ-A7RR-01A-21D-A34A-08		46940298	151082132	8	37404											
WDR52	55779	broad.mit.edu	37	3	113082076	113082076	+	Silent	SNP	C	C	T			TCGA-TQ-A7RR-01A-21D-A34A-08	TCGA-TQ-A7RR-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45405aa2-f77e-413d-8866-04ec7cc569e8	ce743472-4533-4b2c-a3a6-4e9f6cc7a6aa	g.chr3:113082076C>T	ENST00000393845.2	-	21	2916	c.2850G>A	c.(2848-2850)gaG>gaA	p.E950E	WDR52_ENST00000295868.2_Silent_p.E950E	NM_001164496.1	NP_001157968.1	Q96MT7	WDR52_HUMAN	WD repeat domain 52	950										breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2)	49						CTTTGATTTGCTCTCTCTTCC	0.318													27	154					0	0	1	0	0	T	113082076	C	T	113082076	2	4	487	1	0	0	0	0	0	0	0	1	17364	796	28	2		2	WDR52	3	113082076	Silent	SNP	C	TCGA-TQ-A7RR-01A-21D-A34A-08	66141778	113082076	84940354	9	37405											
EEFSEC	60678	broad.mit.edu	37	3	128060266	128060266	+	Frame_Shift_Del	DEL	G	G	-			TCGA-TQ-A7RR-01A-21D-A34A-08	TCGA-TQ-A7RR-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45405aa2-f77e-413d-8866-04ec7cc569e8	ce743472-4533-4b2c-a3a6-4e9f6cc7a6aa	g.chr3:128060266delG	ENST00000254730.6	+	5	1031	c.977delG	c.(976-978)cggfs	p.R326fs	EEFSEC_ENST00000483569.1_3'UTR|EEFSEC_ENST00000483457.1_Frame_Shift_Del_p.R271fs	NM_021937.3	NP_068756.2	P57772	SELB_HUMAN	eukaryotic elongation factor, selenocysteine-tRNA-specific	326						cytoplasm|nucleus	GTP binding|GTPase activity|translation elongation factor activity	p.R326L(1)		NS(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)	25						CCGTATTTCCGGGGGCCCCTG	0.557													24	56	---	---	---	---						-	128060266	G	-	128060266	7	5	487	1	0	1	0	1	0	0	0	0	4957	1116	39	0	995	0	EEFSEC	3	128060266	Frame_Shift_Del	DEL	G	TCGA-TQ-A7RR-01A-21D-A34A-08	14978190	128060266	69962164	10	37406											
TMPRSS11E	28983	broad.mit.edu	37	4	69334631	69334631	+	Missense_Mutation	SNP	A	A	G			TCGA-TQ-A7RR-01A-21D-A34A-08	TCGA-TQ-A7RR-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45405aa2-f77e-413d-8866-04ec7cc569e8	ce743472-4533-4b2c-a3a6-4e9f6cc7a6aa	g.chr4:69334631A>G	ENST00000305363.4	+	4	357	c.293A>G	c.(292-294)gAa>gGa	p.E98G		NM_014058.3	NP_054777.2	Q9UL52	TM11E_HUMAN	transmembrane protease, serine 11E	98	SEA.				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			endometrium(1)|lung(19)|pancreas(1)|skin(3)	24						CCATTAAGGGAAGAATTTGTC	0.294													69	138					0	0	1	0	0	G	69334631	A	G	69334631	3	3	487	1	0	0	0	0	1	0	0	0	16302	246	9	3	307	3	TMPRSS11E	4	69334631	Missense_Mutation	SNP	A	TCGA-TQ-A7RR-01A-21D-A34A-08		69334631	121819645	11	37407											
FSTL5	56884	broad.mit.edu	37	4	162680611	162680611	+	Missense_Mutation	SNP	A	A	G			TCGA-TQ-A7RR-01A-21D-A34A-08	TCGA-TQ-A7RR-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45405aa2-f77e-413d-8866-04ec7cc569e8	ce743472-4533-4b2c-a3a6-4e9f6cc7a6aa	g.chr4:162680611A>G	ENST00000306100.5	-	6	1115	c.679T>C	c.(679-681)Ttt>Ctt	p.F227L	FSTL5_ENST00000536695.1_Missense_Mutation_p.F226L|FSTL5_ENST00000379164.4_Missense_Mutation_p.F226L|FSTL5_ENST00000427802.2_Missense_Mutation_p.F226L	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	227	EF-hand 2.					extracellular region	calcium ion binding			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		TCAGCATTAAAATCATCATAT	0.338													12	66					0	0	1	0	0	G	162680611	A	G	162680611	3	3	487	1	0	0	0	0	1	0	0	0	6115	14	1	3	1908	3	FSTL5	4	162680611	Missense_Mutation	SNP	A	TCGA-TQ-A7RR-01A-21D-A34A-08	93345980	162680611	28473665	12	37408											
ZNF454	285676	broad.mit.edu	37	5	178373365	178373365	+	Silent	SNP	G	G	A			TCGA-TQ-A7RR-01A-21D-A34A-08	TCGA-TQ-A7RR-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45405aa2-f77e-413d-8866-04ec7cc569e8	ce743472-4533-4b2c-a3a6-4e9f6cc7a6aa	g.chr5:178373365G>A	ENST00000320129.3	+	3	342	c.39G>A	c.(37-39)tcG>tcA	p.S13S	ZNF454_ENST00000519564.1_Silent_p.S13S	NM_001178090.1|NM_182594.2	NP_001171561.1|NP_872400.2	Q8N9F8	ZN454_HUMAN	zinc finger protein 454	13					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.S13S(1)		breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(11)|lung(18)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)	46	all_cancers(89;0.000904)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.225)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.234)		TGCAGGAATCGGTGACCTTCA	0.567													27	73					0	0	1	0	0	A	178373365	G	A	178373365	2	1	487	1	0	0	0	0	0	0	0	1	17980	1103	39	1		1	ZNF454	5	178373365	Silent	SNP	G	TCGA-TQ-A7RR-01A-21D-A34A-08		178373365	2541895	13	37409											
LAMA4	3910	broad.mit.edu	37	6	112522827	112522827	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RR-01A-21D-A34A-08	TCGA-TQ-A7RR-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45405aa2-f77e-413d-8866-04ec7cc569e8	ce743472-4533-4b2c-a3a6-4e9f6cc7a6aa	g.chr6:112522827G>A	ENST00000230538.7	-	5	882	c.485C>T	c.(484-486)gCt>gTt	p.A162V	LAMA4_ENST00000522006.1_Missense_Mutation_p.A162V|LAMA4_ENST00000389463.4_Missense_Mutation_p.A162V|LAMA4_ENST00000424408.2_Missense_Mutation_p.A162V|LAMA4_ENST00000524032.1_5'UTR	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	162	Laminin EGF-like 2.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		GTTAGGTCCAGCATAATTTTC	0.388													6	480					0	0	1	0	0	A	112522827	G	A	112522827	3	1	487	1	0	0	0	0	1	0	0	0	8647	971	34	2	5126	2	LAMA4	6	112522827	Missense_Mutation	SNP	G	TCGA-TQ-A7RR-01A-21D-A34A-08		112522827	58592240	14	37410											
PKIB	5570	broad.mit.edu	37	6	123038935	123038935	+	Missense_Mutation	SNP	T	T	C			TCGA-TQ-A7RR-01A-21D-A34A-08	TCGA-TQ-A7RR-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45405aa2-f77e-413d-8866-04ec7cc569e8	ce743472-4533-4b2c-a3a6-4e9f6cc7a6aa	g.chr6:123038935T>C	ENST00000258014.3	+	4	176	c.17T>C	c.(16-18)gTt>gCt	p.V6A	PKIB_ENST00000368452.2_5'UTR|PKIB_ENST00000354275.2_5'UTR|PKIB_ENST00000368446.1_Missense_Mutation_p.V8A|PKIB_ENST00000392490.1_5'UTR|PKIB_ENST00000392491.2_5'UTR|PKIB_ENST00000368448.1_5'UTR	NM_001270395.1	NP_001257324.1	Q9C010	IPKB_HUMAN	protein kinase (cAMP-dependent, catalytic) inhibitor beta	0							cAMP-dependent protein kinase inhibitor activity			large_intestine(3)|lung(1)	4				GBM - Glioblastoma multiforme(226;0.164)		TTTGTAGATGTTGCTATGAGG	0.448													119	251					0	0	1	0	0	C	123038935	T	C	123038935	3	2	487	1	0	0	0	0	1	0	0	0	12022	1740	60	3		3	PKIB	6	123038935	Missense_Mutation	SNP	T	TCGA-TQ-A7RR-01A-21D-A34A-08	10516108	123038935	48076132	15	37411											
C7orf26	79034	broad.mit.edu	37	7	6631413	6631413	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RR-01A-21D-A34A-08	TCGA-TQ-A7RR-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45405aa2-f77e-413d-8866-04ec7cc569e8	ce743472-4533-4b2c-a3a6-4e9f6cc7a6aa	g.chr7:6631413G>A	ENST00000344417.5	+	2	596	c.329G>A	c.(328-330)cGg>cAg	p.R110Q	C7orf26_ENST00000359073.5_Missense_Mutation_p.R91Q|C7orf26_ENST00000472693.1_3'UTR	NM_024067.2	NP_076972.2	Q96N11	CG026_HUMAN	chromosome 7 open reading frame 26	110										endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	11		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)		GATGACAGCCGGATGAGCTTG	0.507													4	137					0	0	1	0	0	A	6631413	G	A	6631413	3	1	487	1	0	0	0	0	1	0	0	0	2397	1116	39	1	335	1	C7orf26	7	6631413	Missense_Mutation	SNP	G	TCGA-TQ-A7RR-01A-21D-A34A-08		6631413	152507250	16	37412											
MUC17	140453	broad.mit.edu	37	7	100680279	100680279	+	Missense_Mutation	SNP	C	C	T	rs147735350		TCGA-TQ-A7RR-01A-21D-A34A-08	TCGA-TQ-A7RR-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45405aa2-f77e-413d-8866-04ec7cc569e8	ce743472-4533-4b2c-a3a6-4e9f6cc7a6aa	g.chr7:100680279C>T	ENST00000306151.4	+	3	5646	c.5582C>T	c.(5581-5583)aCg>aTg	p.T1861M		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1861	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GCAACCTCAACGCCTAGTGAA	0.488													6	425					0	0	1	0	0	T	100680279	C	T	100680279	3	4	487	1	0	0	0	0	1	0	0	0	10022	536	19	1	5592	1	MUC17	7	100680279	Missense_Mutation	SNP	C	TCGA-TQ-A7RR-01A-21D-A34A-08	94048866	100680279	58458384	17	37413											
PMPCB	9512	broad.mit.edu	37	7	102949430	102949430	+	Missense_Mutation	SNP	C	C	T	rs142471700	byFrequency	TCGA-TQ-A7RR-01A-21D-A34A-08	TCGA-TQ-A7RR-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45405aa2-f77e-413d-8866-04ec7cc569e8	ce743472-4533-4b2c-a3a6-4e9f6cc7a6aa	g.chr7:102949430C>T	ENST00000249269.4	+	8	919	c.881C>T	c.(880-882)gCg>gTg	p.A294V	PMPCB_ENST00000428154.1_Missense_Mutation_p.A294V|PMPCB_ENST00000420236.2_Missense_Mutation_p.A189V	NM_004279.2	NP_004270.2	O75439	MPPB_HUMAN	peptidase (mitochondrial processing) beta	294					proteolysis	mitochondrial matrix	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(9)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						ATGCCTTTGGCGCACCTTGCA	0.423													4	126					0	0	1	0	0	T	102949430	C	T	102949430	3	4	487	1	0	0	0	0	1	0	0	0	12189	768	27	1	911	1	PMPCB	7	102949430	Missense_Mutation	SNP	C	TCGA-TQ-A7RR-01A-21D-A34A-08	2269151	102949430	56189233	18	37414											
KCNB2	9312	broad.mit.edu	37	8	73848238	73848238	+	Silent	SNP	G	G	A			TCGA-TQ-A7RR-01A-21D-A34A-08	TCGA-TQ-A7RR-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45405aa2-f77e-413d-8866-04ec7cc569e8	ce743472-4533-4b2c-a3a6-4e9f6cc7a6aa	g.chr8:73848238G>A	ENST00000523207.1	+	3	1236	c.648G>A	c.(646-648)ccG>ccA	p.P216P		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	216					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding	p.P216P(1)		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)			ATACGCTGCCGGAGCTGCAGG	0.473													5	171					0	0	1	0	0	A	73848238	G	A	73848238	2	1	487	1	0	0	0	0	0	0	0	1	8057	1103	39	1		1	KCNB2	8	73848238	Silent	SNP	G	TCGA-TQ-A7RR-01A-21D-A34A-08		73848238	72515784	19	37415											
MTERFD1	51001	broad.mit.edu	37	8	97270778	97270778	+	Silent	SNP	T	T	G			TCGA-TQ-A7RR-01A-21D-A34A-08	TCGA-TQ-A7RR-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45405aa2-f77e-413d-8866-04ec7cc569e8	ce743472-4533-4b2c-a3a6-4e9f6cc7a6aa	g.chr8:97270778T>G	ENST00000523821.1	-	2	260	c.141A>C	c.(139-141)atA>atC	p.I47I	MTERFD1_ENST00000287025.3_Silent_p.I47I			Q96E29	MTER1_HUMAN	MTERF domain containing 1	47					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion	transcription regulatory region DNA binding			endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	24	Breast(36;5.16e-05)					TGTCAGAGGATATCTGAGGCT	0.428													4	189					0	0	1	0	0	G	97270778	T	G	97270778	2	3	487	1	0	0	0	0	0	0	0	1	9967	1396	49	4		4	MTERFD1	8	97270778	Silent	SNP	T	TCGA-TQ-A7RR-01A-21D-A34A-08	23422540	97270778	49093244	20	37416											
FIBCD1	84929	broad.mit.edu	37	9	133779457	133779469	+	Frame_Shift_Del	DEL	GTCCTCCCGGACC	GTCCTCCCGGACC	-			TCGA-TQ-A7RR-01A-21D-A34A-08	TCGA-TQ-A7RR-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45405aa2-f77e-413d-8866-04ec7cc569e8	ce743472-4533-4b2c-a3a6-4e9f6cc7a6aa	g.chr9:133779457_133779469delGTCCTCCCGGACC	ENST00000372338.4	-	7	1610_1622	c.1368_1380delGGTCCGGGAGGAC	c.(1366-1380)ccggtccgggaggacfs	p.PVRED456fs	FIBCD1_ENST00000372337.2_Frame_Shift_Del_p.PVRED298fs|FIBCD1_ENST00000448616.1_Frame_Shift_Del_p.PVRED456fs|FIBCD1_ENST00000253018.4_Splice_Site_p.GS158fs	NM_032843.4	NP_116232.3	Q8N539	FBCD1_HUMAN	fibrinogen C domain containing 1	456	Fibrinogen C-terminal.				signal transduction	extracellular space|integral to membrane	chitin binding|metal ion binding|receptor binding			kidney(1)|large_intestine(3)|lung(2)|prostate(5)|urinary_tract(1)	12	all_hematologic(7;0.0028)			OV - Ovarian serous cystadenocarcinoma(145;3.52e-05)|Epithelial(140;0.00019)		CAGTCTAGCGGTCCTCCCGGACCGGCCGGATCT	0.643													11	23	---	---	---	---						-	133779469	GTCCTCCCGGACC	-	133779457	7	5	487	1	0	1	0	1	0	0	0	0	5917	1252	44	0	9	0	FIBCD1	9	133779457	Frame_Shift_Del	DEL	GTCCTCCCGGACC	TCGA-TQ-A7RR-01A-21D-A34A-08		133779457	7433974	21	37417											
RRP12	23223	broad.mit.edu	37	10	99160934	99160934	+	Missense_Mutation	SNP	T	T	C			TCGA-TQ-A7RR-01A-21D-A34A-08	TCGA-TQ-A7RR-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45405aa2-f77e-413d-8866-04ec7cc569e8	ce743472-4533-4b2c-a3a6-4e9f6cc7a6aa	g.chr10:99160934T>C	ENST00000370992.4	-	1	166	c.55A>G	c.(55-57)Aag>Gag	p.K19E	RP11-452K12.7_ENST00000422848.1_RNA|RRP12_ENST00000315563.6_Missense_Mutation_p.K19E|RRP12_ENST00000414986.1_Missense_Mutation_p.K19E	NM_015179.3	NP_055994.2	Q5JTH9	RRP12_HUMAN	ribosomal RNA processing 12 homolog (S. cerevisiae)	19						integral to membrane|nuclear membrane|nucleolus	protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(2)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Colorectal(252;0.162)		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)		TGGCCTTTCTTCCAGCGCTTC	0.607													27	56					0	0	1	0	0	C	99160934	T	C	99160934	3	2	487	1	0	0	0	0	1	0	0	0	13738	1792	62	3	3974	3	RRP12	10	99160934	Missense_Mutation	SNP	T	TCGA-TQ-A7RR-01A-21D-A34A-08		99160934	36373813	22	37418											
TRIM5	85363	broad.mit.edu	37	11	5701232	5701232	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RR-01A-21D-A34A-08	TCGA-TQ-A7RR-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45405aa2-f77e-413d-8866-04ec7cc569e8	ce743472-4533-4b2c-a3a6-4e9f6cc7a6aa	g.chr11:5701232C>T	ENST00000305836.5	-	2	478	c.176G>A	c.(175-177)cGg>cAg	p.R59Q	TRIM5_ENST00000396855.3_Missense_Mutation_p.R59Q|TRIM5_ENST00000380034.3_Missense_Mutation_p.R59Q|TRIM5_ENST00000396853.4_Missense_Mutation_p.R59Q|TRIM5_ENST00000380027.1_Missense_Mutation_p.R59Q|TRIM5_ENST00000396847.3_Missense_Mutation_p.R59Q			Q9C035	TRIM5_HUMAN	tripartite motif containing 5	59					interspecies interaction between organisms|protein trimerization|response to virus	cytoplasm|cytoplasmic mRNA processing body	ligase activity|protein binding|protein homodimerization activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)|Lung NSC(207;0.138)|all_lung(207;0.221)		Epithelial(150;7.21e-09)|BRCA - Breast invasive adenocarcinoma(625;0.139)		GTAACTGATCCGGCACACAGG	0.547													4	86					0	0	1	0	0	T	5701232	C	T	5701232	3	4	487	1	0	0	0	0	1	0	0	0	16586	652	23	1	1572	1	TRIM5	11	5701232	Missense_Mutation	SNP	C	TCGA-TQ-A7RR-01A-21D-A34A-08		5701232	129305284	23	37419											
CTR9	9646	broad.mit.edu	37	11	10787958	10787958	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RR-01A-21D-A34A-08	TCGA-TQ-A7RR-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45405aa2-f77e-413d-8866-04ec7cc569e8	ce743472-4533-4b2c-a3a6-4e9f6cc7a6aa	g.chr11:10787958G>A	ENST00000361367.2	+	13	2033	c.1607G>A	c.(1606-1608)cGc>cAc	p.R536H		NM_014633.3	NP_055448.1	Q6PD62	CTR9_HUMAN	CTR9, Paf1/RNA polymerase II complex component	536					histone H2B ubiquitination|histone monoubiquitination	Cdc73/Paf1 complex|nuclear speck				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|pancreas(1)|stomach(1)	40				all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		GGCTATTTGCGCCTAGGAGCC	0.308													19	64					0	0	1	0	0	A	10787958	G	A	10787958	3	1	487	1	0	0	0	0	1	0	0	0	4048	1087	38	1	1657	1	CTR9	11	10787958	Missense_Mutation	SNP	G	TCGA-TQ-A7RR-01A-21D-A34A-08	5086726	10787958	124218558	24	37420											
SPDYC	387778	broad.mit.edu	37	11	64939753	64939753	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RR-01A-21D-A34A-08	TCGA-TQ-A7RR-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45405aa2-f77e-413d-8866-04ec7cc569e8	ce743472-4533-4b2c-a3a6-4e9f6cc7a6aa	g.chr11:64939753G>A	ENST00000377185.2	+	4	377	c.295G>A	c.(295-297)Gcc>Acc	p.A99T		NM_001008778.1	NP_001008778.1	Q5MJ68	SPDYC_HUMAN	speedy/RINGO cell cycle regulator family member C	99	Speedy/Ringo box; Required for CDK- binding (By similarity).				cell cycle	nucleus	protein kinase binding	p.A99T(2)		breast(1)|endometrium(3)|large_intestine(2)|lung(9)|prostate(1)	16						CTTCCAGCGCGCCCACCTGAA	0.602													12	113					0	0	1	0	0	A	64939753	G	A	64939753	3	1	487	1	0	0	0	0	1	0	0	0	15084	1087	38	1	309	1	SPDYC	11	64939753	Missense_Mutation	SNP	G	TCGA-TQ-A7RR-01A-21D-A34A-08	54151795	64939753	70066763	25	37421											
GMPR2	51292	broad.mit.edu	37	14	24707597	24707597	+	Silent	SNP	C	C	T			TCGA-TQ-A7RR-01A-21D-A34A-08	TCGA-TQ-A7RR-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45405aa2-f77e-413d-8866-04ec7cc569e8	ce743472-4533-4b2c-a3a6-4e9f6cc7a6aa	g.chr14:24707597C>T	ENST00000557854.1	+	8	1174	c.897C>T	c.(895-897)ggC>ggT	p.G299G	GMPR2_ENST00000559836.1_Silent_p.G281G|GMPR2_ENST00000420554.2_Silent_p.G299G|GMPR2_ENST00000355299.4_Silent_p.G281G|GMPR2_ENST00000399440.2_Silent_p.G281G|GMPR2_ENST00000559104.1_Silent_p.G266G|GMPR2_ENST00000559910.1_Silent_p.G248G|GMPR2_ENST00000348719.7_Silent_p.G281G|GMPR2_ENST00000456667.3_Silent_p.G253G	NM_001283022.1	NP_001269951.1	Q9P2T1	GMPR2_HUMAN	guanosine monophosphate reductase 2	281					nucleotide metabolic process|purine base metabolic process|purine-containing compound salvage	cytosol	GMP reductase activity|metal ion binding			large_intestine(4)|lung(3)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	12				GBM - Glioblastoma multiforme(265;0.0181)		ATGCTGGGGGCGTGGCTGAGT	0.507													11	85					0	0	1	0	0	T	24707597	C	T	24707597	2	4	487	1	0	0	0	0	0	0	0	1	6539	755	27	1		1	GMPR2	14	24707597	Silent	SNP	C	TCGA-TQ-A7RR-01A-21D-A34A-08		24707597	82641943	26	37422											
SPINT1	6692	broad.mit.edu	37	15	41145414	41145414	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RR-01A-21D-A34A-08	TCGA-TQ-A7RR-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45405aa2-f77e-413d-8866-04ec7cc569e8	ce743472-4533-4b2c-a3a6-4e9f6cc7a6aa	g.chr15:41145414C>T	ENST00000344051.4	+	3	802	c.568C>T	c.(568-570)Cgc>Tgc	p.R190C	SPINT1_ENST00000431806.1_Missense_Mutation_p.R190C|SPINT1_ENST00000562057.1_Missense_Mutation_p.R190C			O43278	SPIT1_HUMAN	serine peptidase inhibitor, Kunitz type 1	190						extracellular region|membrane fraction	protein binding|serine-type endopeptidase inhibitor activity			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	16		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;2.91e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166)		CACAGATTGGCGCCTACTGCG	0.617													5	84					0	0	1	0	0	T	41145414	C	T	41145414	3	4	487	1	0	0	0	0	1	0	0	0	15124	768	27	1	574	1	SPINT1	15	41145414	Missense_Mutation	SNP	C	TCGA-TQ-A7RR-01A-21D-A34A-08		41145414	61385978	27	37423											
CES3	23491	broad.mit.edu	37	16	66997082	66997082	+	Splice_Site	SNP	G	G	A			TCGA-TQ-A7RR-01A-21D-A34A-08	TCGA-TQ-A7RR-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45405aa2-f77e-413d-8866-04ec7cc569e8	ce743472-4533-4b2c-a3a6-4e9f6cc7a6aa	g.chr16:66997082G>A	ENST00000303334.4	+	2	154	c.83G>A	c.(82-84)gGg>gAg	p.G28E	CES3_ENST00000394037.1_Splice_Site_p.G28E|RP11-361L15.4_ENST00000566869.1_RNA	NM_024922.5	NP_079198.2	Q6UWW8	EST3_HUMAN	carboxylesterase 3	28						endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	24		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0488)|Epithelial(162;0.127)		CTTCCCTCAGGGCCCGAAGTT	0.587													10	48					0	0	1	0	0	A	66997082	G	A	66997082	5	1	487	1	0	0	0	0	0	0	1	0	3293	1246	43	2	89	2	CES3	16	66997082	Splice_Site	SNP	G	TCGA-TQ-A7RR-01A-21D-A34A-08		66997082	23357671	28	37424											
TP53	7157	broad.mit.edu	37	17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	rs121913343		TCGA-TQ-A7RR-01A-21D-A34A-08	TCGA-TQ-A7RR-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45405aa2-f77e-413d-8866-04ec7cc569e8	ce743472-4533-4b2c-a3a6-4e9f6cc7a6aa	g.chr17:7577121G>A	ENST00000420246.2	-	8	949	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000269305.4_Missense_Mutation_p.R273C|TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.R273C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	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).		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.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			4	8					0	0	1	0	0	A	7577121	G	A	7577121	3	1	487	1	0	0	0	0	1	0	0	0	16442	1087	38	1	469	1	TP53	17	7577121	Missense_Mutation	SNP	G	TCGA-TQ-A7RR-01A-21D-A34A-08		7577121	73618089	29	37425											
TP53	7157	broad.mit.edu	37	17	7577572	7577572	+	Missense_Mutation	SNP	T	T	C			TCGA-TQ-A7RR-01A-21D-A34A-08	TCGA-TQ-A7RR-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45405aa2-f77e-413d-8866-04ec7cc569e8	ce743472-4533-4b2c-a3a6-4e9f6cc7a6aa	g.chr17:7577572T>C	ENST00000420246.2	-	7	841	c.709A>G	c.(709-711)Atg>Gtg	p.M237V	TP53_ENST00000269305.4_Missense_Mutation_p.M237V|TP53_ENST00000359597.4_Missense_Mutation_p.M237V|TP53_ENST00000445888.2_Missense_Mutation_p.M237V|TP53_ENST00000413465.2_Missense_Mutation_p.M237V|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000455263.2_Missense_Mutation_p.M237V	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	237	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).		M -> I (in LFS; germline mutation and in sporadic cancers; somatic mutation).|M -> K (in sporadic cancers; somatic mutation).|M -> L (in sporadic cancers; somatic mutation).|M -> R (in sporadic cancers; somatic mutation).|M -> T (in sporadic cancers; somatic mutation).|M -> V (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.0?(8)|p.M237V(6)|p.?(5)|p.M237L(5)|p.M237fs*10(2)|p.Y236_M237delYM(1)|p.Y236_M237insXX(1)|p.H233fs*6(1)|p.M144L(1)|p.M237_N239delMCN(1)|p.Y236_M243delYMCNSSCM(1)|p.V225fs*23(1)|p.Y236_M237>*L(1)|p.H233_C242del10(1)|p.M237fs*1(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)		CTGTTACACATGTAGTTGTAG	0.572		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)			22	46					0	0	1	0	0	C	7577572	T	C	7577572	3	2	487	1	0	0	0	0	1	0	0	0	16442	1464	51	3	581	3	TP53	17	7577572	Missense_Mutation	SNP	T	TCGA-TQ-A7RR-01A-21D-A34A-08	451	7577572	73617638	30	37426											
SLFN11	91607	broad.mit.edu	37	17	33689956	33689956	+	Missense_Mutation	SNP	G	G	A	rs114962374	byFrequency	TCGA-TQ-A7RR-01A-21D-A34A-08	TCGA-TQ-A7RR-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45405aa2-f77e-413d-8866-04ec7cc569e8	ce743472-4533-4b2c-a3a6-4e9f6cc7a6aa	g.chr17:33689956G>A	ENST00000394566.1	-	4	1143	c.871C>T	c.(871-873)Cgc>Tgc	p.R291C	SLFN11_ENST00000308377.4_Missense_Mutation_p.R291C	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	291						nucleus	ATP binding	p.R291C(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)		GTTATCGGGCGTTGGGGTTGG	0.423													11	240					0	0	1	0	0	A	33689956	G	A	33689956	3	1	487	1	0	0	0	0	1	0	0	0	14788	1145	40	1	1850	1	SLFN11	17	33689956	Missense_Mutation	SNP	G	TCGA-TQ-A7RR-01A-21D-A34A-08	26112384	33689956	47505254	31	37427											
SYNRG	11276	broad.mit.edu	37	17	35896092	35896092	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RR-01A-21D-A34A-08	TCGA-TQ-A7RR-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45405aa2-f77e-413d-8866-04ec7cc569e8	ce743472-4533-4b2c-a3a6-4e9f6cc7a6aa	g.chr17:35896092C>T	ENST00000339208.6	-	19	3795	c.3655G>A	c.(3655-3657)Gcc>Acc	p.A1219T	SYNRG_ENST00000502449.2_Missense_Mutation_p.A1096T|SYNRG_ENST00000345615.4_Missense_Mutation_p.A1141T|SYNRG_ENST00000394378.2_Missense_Mutation_p.A1141T|SYNRG_ENST00000591288.1_Missense_Mutation_p.A1013T|SYNRG_ENST00000585472.1_Missense_Mutation_p.A1140T|SYNRG_ENST00000346661.4_Missense_Mutation_p.A1219T	NM_001163544.1|NM_001163545.1|NM_007247.4	NP_001157016.1|NP_001157017.1|NP_009178.3	Q9UMZ2	SYNRG_HUMAN	synergin, gamma	1219					endocytosis|intracellular protein transport	AP-1 adaptor complex	calcium ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						GTGAGTGTGGCGAGTGACATG	0.443													12	68					0	0	1	0	0	T	35896092	C	T	35896092	3	4	487	1	0	0	0	0	1	0	0	0	15517	768	27	1	378	1	SYNRG	17	35896092	Missense_Mutation	SNP	C	TCGA-TQ-A7RR-01A-21D-A34A-08	2206136	35896092	45299118	32	37428											
OTOP3	347741	broad.mit.edu	37	17	72943529	72943529	+	Missense_Mutation	SNP	C	C	A			TCGA-TQ-A7RR-01A-21D-A34A-08	TCGA-TQ-A7RR-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45405aa2-f77e-413d-8866-04ec7cc569e8	ce743472-4533-4b2c-a3a6-4e9f6cc7a6aa	g.chr17:72943529C>A	ENST00000328801.4	+	6	1579	c.1579C>A	c.(1579-1581)Ctc>Atc	p.L527I		NM_178233.1	NP_839947.1	Q7RTS5	OTOP3_HUMAN	otopetrin 3	527						integral to membrane|intracellular	zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_lung(278;0.151)|Lung NSC(278;0.185)					GCGGAGGGCACTCAAGGAGAT	0.617													11	42					0.000151284	0.000156993	1	1	0	A	72943529	C	A	72943529	3	1	487	1	0	0	0	0	1	0	0	0	11354	565	20	4	1601	4	OTOP3	17	72943529	Missense_Mutation	SNP	C	TCGA-TQ-A7RR-01A-21D-A34A-08	37047437	72943529	8251681	33	37429											
ZNF77	58492	broad.mit.edu	37	19	2933587	2933587	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RR-01A-21D-A34A-08	TCGA-TQ-A7RR-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45405aa2-f77e-413d-8866-04ec7cc569e8	ce743472-4533-4b2c-a3a6-4e9f6cc7a6aa	g.chr19:2933587G>A	ENST00000314531.4	-	4	1630	c.1538C>T	c.(1537-1539)aCg>aTg	p.T513M		NM_021217.2	NP_067040.1	Q15935	ZNF77_HUMAN	zinc finger protein 77	513					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)	17				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)|GBM - Glioblastoma multiforme(1328;2.11e-07)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.174)|STAD - Stomach adenocarcinoma(1328;0.18)		TCCAGTGTGCGTTCTCACGTG	0.502													6	132					0	0	1	0	0	A	2933587	G	A	2933587	3	1	487	1	0	0	0	0	1	0	0	0	18192	1145	40	1	103	1	ZNF77	19	2933587	Missense_Mutation	SNP	G	TCGA-TQ-A7RR-01A-21D-A34A-08		2933587	56195396	34	37430											
NWD1	284434	broad.mit.edu	37	19	16902242	16902242	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RR-01A-21D-A34A-08	TCGA-TQ-A7RR-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45405aa2-f77e-413d-8866-04ec7cc569e8	ce743472-4533-4b2c-a3a6-4e9f6cc7a6aa	g.chr19:16902242G>A	ENST00000524140.2	+	14	3440	c.3022G>A	c.(3022-3024)Gtg>Atg	p.V1008M	NWD1_ENST00000339803.6_Missense_Mutation_p.V873M|NWD1_ENST00000552788.1_Missense_Mutation_p.V1008M|NWD1_ENST00000523826.1_Missense_Mutation_p.V802M|NWD1_ENST00000379808.3_Missense_Mutation_p.V1008M|NWD1_ENST00000549814.1_Missense_Mutation_p.V1008M	NM_001007525.3	NP_001007526.3	Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	1008							ATP binding			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						GTGCATGGCCGTGCTGGCCTC	0.517													5	127					0	0	1	0	0	A	16902242	G	A	16902242	3	1	487	1	0	0	0	0	1	0	0	0	10829	1145	40	1	2655	1	NWD1	19	16902242	Missense_Mutation	SNP	G	TCGA-TQ-A7RR-01A-21D-A34A-08	13968655	16902242	42226741	35	37431											
ZNF708	7562	broad.mit.edu	37	19	21492112	21492112	+	Silent	SNP	G	G	C			TCGA-TQ-A7RR-01A-21D-A34A-08	TCGA-TQ-A7RR-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45405aa2-f77e-413d-8866-04ec7cc569e8	ce743472-4533-4b2c-a3a6-4e9f6cc7a6aa	g.chr19:21492112G>C	ENST00000356929.3	-	3	359	c.162C>G	c.(160-162)acC>acG	p.T54T		NM_021269.2	NP_067092.2	P17019	ZN708_HUMAN	zinc finger protein 708	54	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(2)|stomach(1)	32						GCTCCAGACAGGTGATCAGGT	0.408													5	248					0	0	1	0	0	C	21492112	G	C	21492112	2	2	487	1	0	0	0	0	0	0	0	1	18168	987	35	4		4	ZNF708	19	21492112	Silent	SNP	G	TCGA-TQ-A7RR-01A-21D-A34A-08	4589870	21492112	37636871	36	37432											
NLRP5	126206	broad.mit.edu	37	19	56539876	56539876	+	Splice_Site	SNP	G	G	A			TCGA-TQ-A7RR-01A-21D-A34A-08	TCGA-TQ-A7RR-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45405aa2-f77e-413d-8866-04ec7cc569e8	ce743472-4533-4b2c-a3a6-4e9f6cc7a6aa	g.chr19:56539876G>A	ENST00000390649.3	+	7	2276		c.e7+1			NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5							mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		TCCCTCTATGGTGAGTACCCC	0.527													5	170					0	0	1	0	0	A	56539876	G	A	56539876	5	1	487	1	0	0	0	0	0	0	1	0	10527	1275	44	2	2303	2	NLRP5	19	56539876	Splice_Site	SNP	G	TCGA-TQ-A7RR-01A-21D-A34A-08	35047764	56539876	2589107	37	37433											
SSTR4	6754	broad.mit.edu	37	20	23017160	23017160	+	Missense_Mutation	SNP	A	A	G			TCGA-TQ-A7RR-01A-21D-A34A-08	TCGA-TQ-A7RR-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45405aa2-f77e-413d-8866-04ec7cc569e8	ce743472-4533-4b2c-a3a6-4e9f6cc7a6aa	g.chr20:23017160A>G	ENST00000255008.3	+	1	1104	c.1040A>G	c.(1039-1041)tAt>tGt	p.Y347C	RP4-753D10.3_ENST00000440921.1_RNA	NM_001052.2	NP_001043.2	P31391	SSR4_HUMAN	somatostatin receptor 4	347					G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	32	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)					CTGGACTACTATGCCACTGCT	0.642													10	37					0	0	1	0	0	G	23017160	A	G	23017160	3	3	487	1	0	0	0	0	1	0	0	0	15256	449	16	3	1042	3	SSTR4	20	23017160	Missense_Mutation	SNP	A	TCGA-TQ-A7RR-01A-21D-A34A-08		23017160	40008360	38	37434											
ELMO2	63916	broad.mit.edu	37	20	45002149	45002149	+	Silent	SNP	G	G	A			TCGA-TQ-A7RR-01A-21D-A34A-08	TCGA-TQ-A7RR-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45405aa2-f77e-413d-8866-04ec7cc569e8	ce743472-4533-4b2c-a3a6-4e9f6cc7a6aa	g.chr20:45002149G>A	ENST00000372176.1	-	16	1509	c.1041C>T	c.(1039-1041)caC>caT	p.H347H	ELMO2_ENST00000445496.2_Silent_p.H252H|ELMO2_ENST00000352077.2_Silent_p.H433H|ELMO2_ENST00000439931.2_Silent_p.H447H|ELMO2_ENST00000454865.2_Silent_p.H167H|ELMO2_ENST00000396391.1_Silent_p.H435H|ELMO2_ENST00000290246.6_Silent_p.H435H			Q96JJ3	ELMO2_HUMAN	engulfment and cell motility 2	435	ELMO.				apoptosis|cell chemotaxis|phagocytosis	cytoskeleton|cytosol|membrane	lyase activity|receptor tyrosine kinase binding|SH3 domain binding			breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|urinary_tract(1)	16		Myeloproliferative disorder(115;0.0122)				AGAACATCGGGTGGTAGTCAT	0.498													10	41					0	0	1	0	0	A	45002149	G	A	45002149	2	1	487	1	0	0	0	0	0	0	0	1	5094	1252	44	2		2	ELMO2	20	45002149	Silent	SNP	G	TCGA-TQ-A7RR-01A-21D-A34A-08	21984989	45002149	18023371	39	37435											
B3GALT5	10317	broad.mit.edu	37	21	41033275	41033275	+	Silent	SNP	G	G	A			TCGA-TQ-A7RR-01A-21D-A34A-08	TCGA-TQ-A7RR-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45405aa2-f77e-413d-8866-04ec7cc569e8	ce743472-4533-4b2c-a3a6-4e9f6cc7a6aa	g.chr21:41033275G>A	ENST00000380620.4	+	5	1381	c.789G>A	c.(787-789)caG>caA	p.Q263Q	B3GALT5_ENST00000343118.4_Silent_p.Q263Q|AF064860.5_ENST00000416555.1_RNA|B3GALT5_ENST00000398714.2_Silent_p.Q263Q|B3GALT5_ENST00000380618.1_Silent_p.Q263Q			Q9Y2C3	B3GT5_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 5						protein glycosylation	endoplasmic reticulum|Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	16		Prostate(19;2.55e-06)				TCCACTCCCAGCCGACCTTTT	0.542													8	128					0	0	1	0	0	A	41033275	G	A	41033275	2	1	487	1	0	0	0	0	0	0	0	1	1248	962	34	2		2	B3GALT5	21	41033275	Silent	SNP	G	TCGA-TQ-A7RR-01A-21D-A34A-08		41033275	7096620	40	37436											
ATRX	546	broad.mit.edu	37	X	76938484	76938484	+	Frame_Shift_Del	DEL	T	T	-			TCGA-TQ-A7RR-01A-21D-A34A-08	TCGA-TQ-A7RR-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45405aa2-f77e-413d-8866-04ec7cc569e8	ce743472-4533-4b2c-a3a6-4e9f6cc7a6aa	g.chrX:76938484delT	ENST00000373344.5	-	9	2478	c.2264delA	c.(2263-2265)aatfs	p.N755fs	ATRX_ENST00000395603.3_Frame_Shift_Del_p.N717fs|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	755					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)	ATGAATTTCATTAATATCAGT	0.368			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						192	69	---	---	---	---						-	76938484	T	-	76938484	7	5	487	1	0	1	0	1	0	0	0	0	1206	1493	52	0	5322	0	ATRX	23	76938484	Frame_Shift_Del	DEL	T	TCGA-TQ-A7RR-01A-21D-A34A-08		76938484	78332076	41	37437											
PQLC3	130814	broad.mit.edu	37	2	11312154	11312154	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RS-01A-12D-A33T-08	TCGA-TQ-A7RS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	373b1912-8893-47f0-8469-57ec821e1abc	40f76fea-b2e1-4943-a1ae-608e9a33f474	g.chr2:11312154C>T	ENST00000295083.3	+	5	633	c.458C>T	c.(457-459)tCt>tTt	p.S153F	PQLC3_ENST00000476787.1_3'UTR|PQLC3_ENST00000441908.2_Missense_Mutation_p.S153F|PQLC3_ENST00000402361.1_Intron	NM_152391.3	NP_689604.1	Q8N755	PQLC3_HUMAN	PQ loop repeat containing 3	153						integral to membrane				kidney(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	6	all_hematologic(175;0.0797)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.0978)|OV - Ovarian serous cystadenocarcinoma(76;0.132)		TGGAGCCTCTCTTCCTATACC	0.507													5	183					0	0	1	0	0	T	11312154	C	T	11312154	3	4	488	1	0	0	0	0	1	0	0	0	12469	913	32	2	476	2	PQLC3	2	11312154	Missense_Mutation	SNP	C	TCGA-TQ-A7RS-01A-12D-A33T-08		11312154	231887219	1	37438											
SLC9A4	389015	broad.mit.edu	37	2	103141552	103141552	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RS-01A-12D-A33T-08	TCGA-TQ-A7RS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	373b1912-8893-47f0-8469-57ec821e1abc	40f76fea-b2e1-4943-a1ae-608e9a33f474	g.chr2:103141552C>T	ENST00000295269.4	+	10	2345	c.1888C>T	c.(1888-1890)Cgc>Tgc	p.R630C		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	630					regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						GATTCTGATCCGCCGCCAGAA	0.502													158	213					0	0	1	0	0	T	103141552	C	T	103141552	3	4	488	1	0	0	0	0	1	0	0	0	14771	652	23	1	1926	1	SLC9A4	2	103141552	Missense_Mutation	SNP	C	TCGA-TQ-A7RS-01A-12D-A33T-08	91829398	103141552	140057821	2	37439											
SLC20A1	6574	broad.mit.edu	37	2	113404716	113404716	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RS-01A-12D-A33T-08	TCGA-TQ-A7RS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	373b1912-8893-47f0-8469-57ec821e1abc	40f76fea-b2e1-4943-a1ae-608e9a33f474	g.chr2:113404716C>T	ENST00000272542.3	+	2	850	c.311C>T	c.(310-312)gCc>gTc	p.A104V		NM_005415.4	NP_005406.3	Q8WUM9	S20A1_HUMAN	solute carrier family 20 (phosphate transporter), member 1	104					phosphate metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to plasma membrane	inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|skin(1)|urinary_tract(3)	28						CTGCTGATGGCCGGCTCAGTC	0.488													4	131					0	0	1	0	0	T	113404716	C	T	113404716	3	4	488	1	0	0	0	0	1	0	0	0	14493	739	26	2	313	2	SLC20A1	2	113404716	Missense_Mutation	SNP	C	TCGA-TQ-A7RS-01A-12D-A33T-08	10263164	113404716	129794657	3	37440											
FAM126B	285172	broad.mit.edu	37	2	201862255	201862255	+	Missense_Mutation	SNP	A	A	C			TCGA-TQ-A7RS-01A-12D-A33T-08	TCGA-TQ-A7RS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	373b1912-8893-47f0-8469-57ec821e1abc	40f76fea-b2e1-4943-a1ae-608e9a33f474	g.chr2:201862255A>C	ENST00000418596.3	-	8	726	c.539T>G	c.(538-540)gTc>gGc	p.V180G	AC005037.3_ENST00000413848.1_RNA	NM_173822.3	NP_776183.1	Q8IXS8	F126B_HUMAN	family with sequence similarity 126, member B							intracellular				endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16						AAAACTCAGGACTTCAAACCT	0.358													5	162					0	0	1	0	0	C	201862255	A	C	201862255	3	2	488	1	0	0	0	0	1	0	0	0	5461	275	10	5	1073	5	FAM126B	2	201862255	Missense_Mutation	SNP	A	TCGA-TQ-A7RS-01A-12D-A33T-08	88457539	201862255	41337118	4	37441											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-TQ-A7RS-01A-12D-A33T-08	TCGA-TQ-A7RS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	373b1912-8893-47f0-8469-57ec821e1abc	40f76fea-b2e1-4943-a1ae-608e9a33f474	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	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								75	95					0	0	1	0	0	T	209113112	C	T	209113112	3	4	488	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-TQ-A7RS-01A-12D-A33T-08	7250857	209113112	34086261	5	37442											
INPP5D	3635	broad.mit.edu	37	2	234112925	234112925	+	Silent	SNP	G	G	A			TCGA-TQ-A7RS-01A-12D-A33T-08	TCGA-TQ-A7RS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	373b1912-8893-47f0-8469-57ec821e1abc	40f76fea-b2e1-4943-a1ae-608e9a33f474	g.chr2:234112925G>A	ENST00000359570.5	+	28	3093	c.3093G>A	c.(3091-3093)ccG>ccA	p.P1031P	INPP5D_ENST00000450745.1_Silent_p.P795P|INPP5D_ENST00000455936.2_Silent_p.P795P			Q92835	SHIP1_HUMAN	inositol polyphosphate-5-phosphatase, 145kDa	0	Pro-rich.				apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway	cytosol	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding	p.P1043P(1)		central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		CCAAAATGCCGCGGAAGGAAC	0.647													63	65					0	0	1	0	0	A	234112925	G	A	234112925	2	1	488	1	0	0	0	0	0	0	0	1	7800	1074	38	1		1	INPP5D	2	234112925	Silent	SNP	G	TCGA-TQ-A7RS-01A-12D-A33T-08	24999813	234112925	9086448	6	37443											
PXK	54899	broad.mit.edu	37	3	58368278	58368278	+	Missense_Mutation	SNP	T	T	C			TCGA-TQ-A7RS-01A-12D-A33T-08	TCGA-TQ-A7RS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	373b1912-8893-47f0-8469-57ec821e1abc	40f76fea-b2e1-4943-a1ae-608e9a33f474	g.chr3:58368278T>C	ENST00000463280.1	+	2	231	c.140T>C	c.(139-141)tTg>tCg	p.L47S	PXK_ENST00000484288.1_Missense_Mutation_p.L80S|PXK_ENST00000383715.4_Missense_Mutation_p.L63S|PXK_ENST00000536660.1_Intron|PXK_ENST00000383716.3_Missense_Mutation_p.L47S|PXK_ENST00000479241.1_Missense_Mutation_p.L63S|PXK_ENST00000356151.2_Missense_Mutation_p.L80S|PXK_ENST00000302779.5_Missense_Mutation_p.L63S			Q7Z7A4	PXK_HUMAN	PX domain containing serine/threonine kinase	80	PX.				cell communication|inflammatory response|negative regulation of ATPase activity|negative regulation of ion transport|regulation of synaptic transmission	centrosome|cytoplasm|nucleus|plasma membrane	actin binding|ATP binding|phosphatidylinositol binding|protein C-terminus binding|protein kinase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(55;0.000249)|KIRC - Kidney renal clear cell carcinoma(10;0.00346)|Kidney(10;0.00368)|OV - Ovarian serous cystadenocarcinoma(275;0.22)		CCCAAAAAATTGATTGGTAAC	0.338													12	123					0	0	1	0	0	C	58368278	T	C	58368278	3	2	488	1	0	0	0	0	1	0	0	0	12901	1821	63	3	253	3	PXK	3	58368278	Missense_Mutation	SNP	T	TCGA-TQ-A7RS-01A-12D-A33T-08		58368278	139654152	7	37444											
FRMD4B	23150	broad.mit.edu	37	3	69230684	69230684	+	Silent	SNP	C	C	T			TCGA-TQ-A7RS-01A-12D-A33T-08	TCGA-TQ-A7RS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	373b1912-8893-47f0-8469-57ec821e1abc	40f76fea-b2e1-4943-a1ae-608e9a33f474	g.chr3:69230684C>T	ENST00000542259.1	-	22	2506	c.2055G>A	c.(2053-2055)gaG>gaA	p.E685E	FRMD4B_ENST00000478263.1_Silent_p.E391E|FRMD4B_ENST00000398540.3_Silent_p.E739E			Q9Y2L6	FRM4B_HUMAN	FERM domain containing 4B	739						cytoplasm|cytoskeleton	binding			NS(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(2)	19		Lung NSC(201;0.0138)|Prostate(884;0.11)		BRCA - Breast invasive adenocarcinoma(55;0.000201)|Epithelial(33;0.00141)|LUSC - Lung squamous cell carcinoma(21;0.00999)|Lung(16;0.0182)		CACAGTAATACTCTGTGCTTG	0.493													65	160					0	0	1	0	0	T	69230684	C	T	69230684	2	4	488	1	0	0	0	0	0	0	0	1	6087	564	20	2		2	FRMD4B	3	69230684	Silent	SNP	C	TCGA-TQ-A7RS-01A-12D-A33T-08	10862406	69230684	128791746	8	37445											
LSAMP	4045	broad.mit.edu	37	3	116163760	116163760	+	Missense_Mutation	SNP	T	T	C			TCGA-TQ-A7RS-01A-12D-A33T-08	TCGA-TQ-A7RS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	373b1912-8893-47f0-8469-57ec821e1abc	40f76fea-b2e1-4943-a1ae-608e9a33f474	g.chr3:116163760T>C	ENST00000490035.2	-	1	618	c.119A>G	c.(118-120)aAc>aGc	p.N40S	LSAMP_ENST00000539563.1_Missense_Mutation_p.N37S	NM_002338.3	NP_002329.2	Q13449	LSAMP_HUMAN	limbic system-associated membrane protein		Ig-like C2-type 1.				cell adhesion|nervous system development	anchored to membrane|plasma membrane				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(4)|lung(14)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31		all_cancers(1;0.00189)|all_epithelial(1;0.0366)|Myeloproliferative disorder(1037;0.17)|all_neural(597;0.208)|Lung NSC(201;0.215)		GBM - Glioblastoma multiforme(114;0.00117)|LUSC - Lung squamous cell carcinoma(41;0.0407)|Lung(219;0.152)		CACGGTGATGTTGTCCGTGCC	0.572													10	92					0	0	1	0	0	C	116163760	T	C	116163760	3	2	488	1	0	0	0	0	1	0	0	0	9093	1725	60	3	925	3	LSAMP	3	116163760	Missense_Mutation	SNP	T	TCGA-TQ-A7RS-01A-12D-A33T-08	46933076	116163760	81858670	9	37446											
DHX15	1665	broad.mit.edu	37	4	24578065	24578065	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RS-01A-12D-A33T-08	TCGA-TQ-A7RS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	373b1912-8893-47f0-8469-57ec821e1abc	40f76fea-b2e1-4943-a1ae-608e9a33f474	g.chr4:24578065G>A	ENST00000336812.4	-	2	464	c.308C>T	c.(307-309)gCc>gTc	p.A103V		NM_001358.2	NP_001349.2	O43143	DHX15_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 15	103					mRNA processing	U12-type spliceosomal complex	ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	30		Breast(46;0.0503)				TGCATGTCCGGCATGCGTTGA	0.458													4	208					0	0	1	0	0	A	24578065	G	A	24578065	3	1	488	1	0	0	0	0	1	0	0	0	4529	1203	42	2	2131	2	DHX15	4	24578065	Missense_Mutation	SNP	G	TCGA-TQ-A7RS-01A-12D-A33T-08		24578065	166576211	10	37447											
PDGFRA	5156	broad.mit.edu	37	4	55133872	55133872	+	Missense_Mutation	SNP	A	A	C			TCGA-TQ-A7RS-01A-12D-A33T-08	TCGA-TQ-A7RS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	373b1912-8893-47f0-8469-57ec821e1abc	40f76fea-b2e1-4943-a1ae-608e9a33f474	g.chr4:55133872A>C	ENST00000257290.5	+	7	1416	c.1085A>C	c.(1084-1086)gAg>gCg	p.E362A	FIP1L1_ENST00000507166.1_Intron	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	362	Ig-like C2-type 4.				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	AATCTCACTGAGATCACCACT	0.443			"Mis, O, T"	FIP1L1	"GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			12	93					0	0	1	0	0	C	55133872	A	C	55133872	3	2	488	1	0	0	0	0	1	0	0	0	11708	304	11	5	1107	5	PDGFRA	4	55133872	Missense_Mutation	SNP	A	TCGA-TQ-A7RS-01A-12D-A33T-08	30555807	55133872	136020404	11	37448											
TAF9	6880	broad.mit.edu	37	5	68660800	68660800	+	Silent	SNP	A	A	G			TCGA-TQ-A7RS-01A-12D-A33T-08	TCGA-TQ-A7RS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	373b1912-8893-47f0-8469-57ec821e1abc	40f76fea-b2e1-4943-a1ae-608e9a33f474	g.chr5:68660800A>G	ENST00000328663.4	-	3	1231	c.765T>C	c.(763-765)gaT>gaC	p.D255D	TAF9_ENST00000380818.3_Intron|TAF9_ENST00000380822.4_Intron|TAF9_ENST00000506736.1_Silent_p.D255D|TAF9_ENST00000502819.1_Intron|TAF9_ENST00000512561.1_Intron|TAF9_ENST00000217893.5_Silent_p.D255D	NM_001015892.1	NP_001015892.1	Q9Y3D8	KAD6_HUMAN	TAF9 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 32kDa	59						Cajal body	adenylate kinase activity|ATP binding|protein binding	p.D255D(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|urinary_tract(1)	8		Lung NSC(167;7.26e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.1e-56)|Epithelial(20;9.54e-53)|all cancers(19;2.2e-48)|Lung(70;0.0176)		catcatcatcatcgtcatcat	0.318													5	309					0	0	1	0	0	G	68660800	A	G	68660800	2	3	488	1	0	0	0	0	0	0	0	1	15592	214	8	3		3	TAF9	5	68660800	Silent	SNP	A	TCGA-TQ-A7RS-01A-12D-A33T-08		68660800	112254460	12	37449											
FBN2	2201	broad.mit.edu	37	5	127674745	127674745	+	Nonsense_Mutation	SNP	C	C	A			TCGA-TQ-A7RS-01A-12D-A33T-08	TCGA-TQ-A7RS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	373b1912-8893-47f0-8469-57ec821e1abc	40f76fea-b2e1-4943-a1ae-608e9a33f474	g.chr5:127674745C>A	ENST00000508053.1	-	32	4326	c.3352G>T	c.(3352-3354)Gag>Tag	p.E1118*	FBN2_ENST00000262464.4_Nonsense_Mutation_p.E1118*|FBN2_ENST00000508989.1_Nonsense_Mutation_p.E1085*|FBN2_ENST00000507835.1_5'UTR			P35556	FBN2_HUMAN	fibrillin 2	1118	EGF-like 16; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		ATCCTGCACTCGTCGATGTCT	0.458													10	161					4.68919e-08	5.22205e-08	1	1	0	A	127674745	C	A	127674745	4	1	488	1	0	0	0	0	0	1	0	0	5736	893	31	5	5546	5	FBN2	5	127674745	Nonsense_Mutation	SNP	C	TCGA-TQ-A7RS-01A-12D-A33T-08	59013945	127674745	53240515	13	37450											
NFYA	4800	broad.mit.edu	37	6	41059406	41059407	+	Frame_Shift_Ins	INS	-	-	GTGGTCAA			TCGA-TQ-A7RS-01A-12D-A33T-08	TCGA-TQ-A7RS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	373b1912-8893-47f0-8469-57ec821e1abc	40f76fea-b2e1-4943-a1ae-608e9a33f474	g.chr6:41059406_41059407insGTGGTCAA	ENST00000341376.6	+	7	888_889	c.687_688insGTGGTCAA	c.(688-690)gtgfs	p.-230fs	OARD1_ENST00000480585.1_Intron|NFYA_ENST00000353205.5_Frame_Shift_Ins_p.-201fs	NM_002505.4	NP_002496.1	P23511	NFYA_HUMAN	nuclear transcription factor Y, alpha						transcription from RNA polymerase II promoter	CCAAT-binding factor complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(2)|urinary_tract(1)	9	Ovarian(28;0.0418)|Colorectal(47;0.196)					TGGCAGGCAATGTGGTCAATTC	0.436													47	130	---	---	---	---						GTGGTCAA	41059407	-	GTGGTCAA	41059406	7	5	488	1	0	1	1	0	0	0	0	0	10436	1461	51	0	709	0	NFYA	6	41059406	Frame_Shift_Ins	INS	-	TCGA-TQ-A7RS-01A-12D-A33T-08		41059406	130055661	14	37451											
AIMP2	7965	broad.mit.edu	37	7	6049111	6049111	+	Silent	SNP	G	G	A	rs150986274		TCGA-TQ-A7RS-01A-12D-A33T-08	TCGA-TQ-A7RS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	373b1912-8893-47f0-8469-57ec821e1abc	40f76fea-b2e1-4943-a1ae-608e9a33f474	g.chr7:6049111G>A	ENST00000223029.3	+	1	236	c.117G>A	c.(115-117)ccG>ccA	p.P39P	AIMP2_ENST00000400479.2_Intron|AIMP2_ENST00000395236.2_Silent_p.P39P	NM_006303.3	NP_006294.2	Q13155	AIMP2_HUMAN	aminoacyl tRNA synthetase complex-interacting multifunctional protein 2	39					apoptosis|cell differentiation|multicellular organismal development|tRNA aminoacylation for protein translation	cytosol|nucleus	protein binding			large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						GCCCAGCGCCGGGCGCTGGCC	0.761													4	102					0	0	1	0	0	A	6049111	G	A	6049111	2	1	488	1	0	0	0	0	0	0	0	1	431	1103	39	1		1	AIMP2	7	6049111	Silent	SNP	G	TCGA-TQ-A7RS-01A-12D-A33T-08		6049111	153089552	15	37452											
TYW1	55253	broad.mit.edu	37	7	66479413	66479413	+	Silent	SNP	T	T	C	rs145686658	by1000genomes	TCGA-TQ-A7RS-01A-12D-A33T-08	TCGA-TQ-A7RS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	373b1912-8893-47f0-8469-57ec821e1abc	40f76fea-b2e1-4943-a1ae-608e9a33f474	g.chr7:66479413T>C	ENST00000359626.5	+	5	599	c.435T>C	c.(433-435)acT>acC	p.T145T		NM_018264.2	NP_060734.2	Q9NV66	TYW1_HUMAN	tRNA-yW synthesizing protein 1 homolog (S. cerevisiae)	145	Flavodoxin-like.				tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity	p.T145T(1)		breast(1)|endometrium(8)|kidney(10)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(3)|stomach(2)|urinary_tract(2)	46		Lung NSC(55;0.0846)|all_lung(88;0.183)				GCCTACCAACTGAAAGTGCAG	0.428													4	274					0	0	1	0	0	C	66479413	T	C	66479413	2	2	488	1	0	0	0	0	0	0	0	1	16880	1567	55	3		3	TYW1	7	66479413	Silent	SNP	T	TCGA-TQ-A7RS-01A-12D-A33T-08	60430302	66479413	92659250	16	37453											
MET	4233	broad.mit.edu	37	7	116414969	116414969	+	Silent	SNP	C	C	T			TCGA-TQ-A7RS-01A-12D-A33T-08	TCGA-TQ-A7RS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	373b1912-8893-47f0-8469-57ec821e1abc	40f76fea-b2e1-4943-a1ae-608e9a33f474	g.chr7:116414969C>T	ENST00000397752.3	+	15	3263	c.3063C>T	c.(3061-3063)tgC>tgT	p.C1021C	MET_ENST00000318493.6_Silent_p.C1039C	NM_000245.2|NM_001127500.1	NP_000236.2|NP_001120972.1	P08581	MET_HUMAN	met proto-oncogene	1021					axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			ACGGTTCATGCCGACAAGTGC	0.413			Mis		"papillary renal, head-neck squamous cell "	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)				5	229					0	0	1	0	0	T	116414969	C	T	116414969	2	4	488	1	0	0	0	0	0	0	0	1	9535	747	26	2		2	MET	7	116414969	Silent	SNP	C	TCGA-TQ-A7RS-01A-12D-A33T-08	49935556	116414969	42723694	17	37454											
HABP4	22927	broad.mit.edu	37	9	99250419	99250419	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RS-01A-12D-A33T-08	TCGA-TQ-A7RS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	373b1912-8893-47f0-8469-57ec821e1abc	40f76fea-b2e1-4943-a1ae-608e9a33f474	g.chr9:99250419G>A	ENST00000375249.4	+	7	1123	c.1048G>A	c.(1048-1050)Gcc>Acc	p.A350T	HABP4_ENST00000466976.1_3'UTR|HABP4_ENST00000375251.3_Missense_Mutation_p.A245T	NM_014282.2	NP_055097.2	Q5JVS0	HABP4_HUMAN	hyaluronan binding protein 4	350					platelet activation|platelet degranulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|extracellular region|nucleus	protein binding			NS(1)|cervix(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	13		Acute lymphoblastic leukemia(62;0.0169)|all_hematologic(171;0.214)				CCGGAAACCCGCCAATGACAT	0.532													4	243					0	0	1	0	0	A	99250419	G	A	99250419	3	1	488	1	0	0	0	0	1	0	0	0	6980	1087	38	1	1074	1	HABP4	9	99250419	Missense_Mutation	SNP	G	TCGA-TQ-A7RS-01A-12D-A33T-08		99250419	41963012	18	37455											
WDR37	22884	broad.mit.edu	37	10	1149739	1149739	+	Silent	SNP	C	C	T			TCGA-TQ-A7RS-01A-12D-A33T-08	TCGA-TQ-A7RS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	373b1912-8893-47f0-8469-57ec821e1abc	40f76fea-b2e1-4943-a1ae-608e9a33f474	g.chr10:1149739C>T	ENST00000358220.1	+	10	1068	c.924C>T	c.(922-924)taC>taT	p.Y308Y	WDR37_ENST00000263150.4_Silent_p.Y308Y			Q9Y2I8	WDR37_HUMAN	WD repeat domain 37	308										breast(2)|endometrium(2)|kidney(1)|lung(9)|prostate(2)|skin(1)	17		all_epithelial(10;0.0449)|Colorectal(49;0.142)		Epithelial(11;0.134)		CAAACCTGTACGACGTGGAGA	0.612													39	48					0	0	1	0	0	T	1149739	C	T	1149739	2	4	488	1	0	0	0	0	0	0	0	1	17351	547	19	1		1	WDR37	10	1149739	Silent	SNP	C	TCGA-TQ-A7RS-01A-12D-A33T-08		1149739	134385008	19	37456											
KIAA1217	56243	broad.mit.edu	37	10	24833288	24833289	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-TQ-A7RS-01A-12D-A33T-08	TCGA-TQ-A7RS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	373b1912-8893-47f0-8469-57ec821e1abc	40f76fea-b2e1-4943-a1ae-608e9a33f474	g.chr10:24833288_24833289delAG	ENST00000376451.2	+	14	4398_4399	c.4138_4139delAG	c.(4138-4140)agafs	p.R1380fs	KIAA1217_ENST00000458595.1_Intron|KIAA1217_ENST00000396445.1_Intron|KIAA1217_ENST00000376452.3_Intron|KIAA1217_ENST00000307544.6_Intron|KIAA1217_ENST00000396446.1_Intron|KIAA1217_ENST00000376462.1_Intron|KIAA1217_ENST00000376454.3_Frame_Shift_Del_p.R1697fs			Q5T5P2	SKT_HUMAN	KIAA1217	1697					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						TTCTTCCAACAGAGATTCTGTT	0.505													36	136	---	---	---	---						-	24833289	AG	-	24833288	7	5	488	1	0	1	0	1	0	0	0	0	8258	180	7	0	5163	0	KIAA1217	10	24833288	Frame_Shift_Del	DEL	AG	TCGA-TQ-A7RS-01A-12D-A33T-08	23683549	24833288	110701459	20	37457											
MPZL2	10205	broad.mit.edu	37	11	118133674	118133674	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RS-01A-12D-A33T-08	TCGA-TQ-A7RS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	373b1912-8893-47f0-8469-57ec821e1abc	40f76fea-b2e1-4943-a1ae-608e9a33f474	g.chr11:118133674C>T	ENST00000278937.2	-	2	325	c.197G>A	c.(196-198)cGt>cAt	p.R66H	MPZL2_ENST00000438295.2_Missense_Mutation_p.R66H|MPZL2_ENST00000525647.1_5'UTR	NM_005797.3	NP_005788.1	O60487	MPZL2_HUMAN	myelin protein zero-like 2	66	Ig-like V-type.				anatomical structure morphogenesis|homophilic cell adhesion	cytoskeleton|integral to membrane				endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|skin(1)	11	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.04e-05)		GTCTAGAGGACGAAAATTCCA	0.468													147	196					0	0	1	0	0	T	118133674	C	T	118133674	3	4	488	1	0	0	0	0	1	0	0	0	9799	536	19	1	466	1	MPZL2	11	118133674	Missense_Mutation	SNP	C	TCGA-TQ-A7RS-01A-12D-A33T-08		118133674	16872842	21	37458											
GRIP1	23426	broad.mit.edu	37	12	66909479	66909479	+	Missense_Mutation	SNP	G	G	A	rs141923622	by1000genomes	TCGA-TQ-A7RS-01A-12D-A33T-08	TCGA-TQ-A7RS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	373b1912-8893-47f0-8469-57ec821e1abc	40f76fea-b2e1-4943-a1ae-608e9a33f474	g.chr12:66909479G>A	ENST00000359742.4	-	7	884	c.644C>T	c.(643-645)aCg>aTg	p.T215M	GRIP1_ENST00000286445.7_Missense_Mutation_p.T215M|GRIP1_ENST00000398016.3_Missense_Mutation_p.T215M			Q9Y3R0	GRIP1_HUMAN	glutamate receptor interacting protein 1	215	PDZ 2.				androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission	cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane	androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity			NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		TTCAGCATGCGTAGTTCCAAG	0.453													67	171					0	0	1	0	0	A	66909479	G	A	66909479	3	1	488	1	0	0	0	0	1	0	0	0	6828	1145	40	1	2658	1	GRIP1	12	66909479	Missense_Mutation	SNP	G	TCGA-TQ-A7RS-01A-12D-A33T-08		66909479	66942416	22	37459											
SBNO1	55206	broad.mit.edu	37	12	123780522	123780522	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RS-01A-12D-A33T-08	TCGA-TQ-A7RS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	373b1912-8893-47f0-8469-57ec821e1abc	40f76fea-b2e1-4943-a1ae-608e9a33f474	g.chr12:123780522G>A	ENST00000420886.2	-	31	4114	c.4115C>T	c.(4114-4116)gCg>gTg	p.A1372V	SBNO1_ENST00000267176.4_Missense_Mutation_p.A1371V|SBNO1_ENST00000602750.1_Missense_Mutation_p.A1371V|SBNO1_ENST00000602398.1_Missense_Mutation_p.A1372V	NM_001167856.1	NP_001161328.1	A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)	1372							ATP binding|DNA binding|hydrolase activity	p.A1371V(2)		NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		CTGTTGGACCGCAAGCTGTTG	0.433													7	461					0	0	1	0	0	A	123780522	G	A	123780522	3	1	488	1	0	0	0	0	1	0	0	0	13915	1087	38	1	70	1	SBNO1	12	123780522	Missense_Mutation	SNP	G	TCGA-TQ-A7RS-01A-12D-A33T-08	56871043	123780522	10071373	23	37460											
FOXA1	3169	broad.mit.edu	37	14	38061654	38061654	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RS-01A-12D-A33T-08	TCGA-TQ-A7RS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	373b1912-8893-47f0-8469-57ec821e1abc	40f76fea-b2e1-4943-a1ae-608e9a33f474	g.chr14:38061654C>T	ENST00000250448.2	-	2	396	c.335G>A	c.(334-336)gGc>gAc	p.G112D	FOXA1_ENST00000540786.1_Missense_Mutation_p.G79D|FOXA1_ENST00000545425.2_5'UTR	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	forkhead box A1	112					chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)		GGCGCCCATGCCGCTCGGGCT	0.741													3	35					0	0	1	0	0	T	38061654	C	T	38061654	3	4	488	1	0	0	0	0	1	0	0	0	6022	739	26	2	1087	2	FOXA1	14	38061654	Missense_Mutation	SNP	C	TCGA-TQ-A7RS-01A-12D-A33T-08		38061654	69287886	24	37461											
G6PC	2538	broad.mit.edu	37	17	41052996	41052996	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RS-01A-12D-A33T-08	TCGA-TQ-A7RS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	373b1912-8893-47f0-8469-57ec821e1abc	40f76fea-b2e1-4943-a1ae-608e9a33f474	g.chr17:41052996G>A	ENST00000253801.2	+	1	182	c.103G>A	c.(103-105)Gtg>Atg	p.V35M	G6PC_ENST00000585489.1_Missense_Mutation_p.V35M|G6PC_ENST00000592383.1_Missense_Mutation_p.V35M	NM_000151.3	NP_000142.2	P35575	G6PC_HUMAN	glucose-6-phosphatase, catalytic subunit	35					gluconeogenesis|glucose homeostasis|transmembrane transport	integral to endoplasmic reticulum membrane	glucose-6-phosphatase activity|phosphate binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)	23		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.113)		CTTGGTGTCCGTGATCGCAGA	0.498													4	233					0	0	1	0	0	A	41052996	G	A	41052996	3	1	488	1	0	0	0	0	1	0	0	0	6178	1145	40	1	105	1	G6PC	17	41052996	Missense_Mutation	SNP	G	TCGA-TQ-A7RS-01A-12D-A33T-08		41052996	40142214	25	37462											
SERPINB4	6318	broad.mit.edu	37	18	61306946	61306946	+	Silent	SNP	G	G	A			TCGA-TQ-A7RS-01A-12D-A33T-08	TCGA-TQ-A7RS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	373b1912-8893-47f0-8469-57ec821e1abc	40f76fea-b2e1-4943-a1ae-608e9a33f474	g.chr18:61306946G>A	ENST00000341074.5	-	6	649	c.534C>T	c.(532-534)aaC>aaT	p.N178N	SERPINB4_ENST00000356424.6_Silent_p.N178N	NM_002974.2	NP_002965.1			serpin peptidase inhibitor, clade B (ovalbumin), member 4											breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	42						AATAGATTGCGTTCACAAGAA	0.318													86	119					0	0	1	0	0	A	61306946	G	A	61306946	2	1	488	1	0	0	0	0	0	0	0	1	14157	1136	40	1		1	SERPINB4	18	61306946	Silent	SNP	G	TCGA-TQ-A7RS-01A-12D-A33T-08		61306946	16770302	26	37463											
LPHN1	22859	broad.mit.edu	37	19	14266957	14266957	+	Silent	SNP	C	C	A			TCGA-TQ-A7RS-01A-12D-A33T-08	TCGA-TQ-A7RS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	373b1912-8893-47f0-8469-57ec821e1abc	40f76fea-b2e1-4943-a1ae-608e9a33f474	g.chr19:14266957C>A	ENST00000340736.6	-	18	3402	c.3105G>T	c.(3103-3105)gtG>gtT	p.V1035V	CTB-55O6.12_ENST00000588387.1_RNA|LPHN1_ENST00000361434.3_Silent_p.V1030V|CTB-55O6.12_ENST00000592086.1_RNA	NM_001008701.2	NP_001008701.1	O94910	LPHN1_HUMAN	latrophilin 1	1035					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CGGGCTTGAGCACAGATGAGC	0.667													4	36					2.56e-06	2.72696e-06	1	1	0	A	14266957	C	A	14266957	2	1	488	1	0	0	0	0	0	0	0	1	8960	697	25	5		5	LPHN1	19	14266957	Silent	SNP	C	TCGA-TQ-A7RS-01A-12D-A33T-08		14266957	44862026	27	37464											
RYR1	6261	broad.mit.edu	37	19	38991258	38991258	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RS-01A-12D-A33T-08	TCGA-TQ-A7RS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	373b1912-8893-47f0-8469-57ec821e1abc	40f76fea-b2e1-4943-a1ae-608e9a33f474	g.chr19:38991258G>A	ENST00000355481.4	+	46	7467	c.7336G>A	c.(7336-7338)Ggc>Agc	p.G2446S	RYR1_ENST00000359596.3_Missense_Mutation_p.G2446S|RYR1_ENST00000360985.3_Missense_Mutation_p.G2446S	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	2446	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	AATCCAAGCCGGCAAGGGTGA	0.637													36	42					0	0	1	0	0	A	38991258	G	A	38991258	3	1	488	1	0	0	0	0	1	0	0	0	13820	1116	39	1	7518	1	RYR1	19	38991258	Missense_Mutation	SNP	G	TCGA-TQ-A7RS-01A-12D-A33T-08	24724301	38991258	20137725	28	37465											
CIC	23152	broad.mit.edu	37	19	42791718	42791718	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RS-01A-12D-A33T-08	TCGA-TQ-A7RS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	373b1912-8893-47f0-8469-57ec821e1abc	40f76fea-b2e1-4943-a1ae-608e9a33f474	g.chr19:42791718C>T	ENST00000572681.2	+	6	3399	c.3331C>T	c.(3331-3333)Cgg>Tgg	p.R1111W	CIC_ENST00000575354.2_Missense_Mutation_p.R202W|CIC_ENST00000160740.3_Missense_Mutation_p.R202W			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	202	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	p.R202W(1)		autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CCACATCCGGCGGCCCATGAA	0.622			"Mis, F, S"		oligodendroglioma								10	50					0	0	1	0	0	T	42791718	C	T	42791718	3	4	488	1	0	0	0	0	1	0	0	0	3446	759	27	1	622	1	CIC	19	42791718	Missense_Mutation	SNP	C	TCGA-TQ-A7RS-01A-12D-A33T-08	3800460	42791718	16337265	29	37466			1	52		2	2	89	N	G_C	9.948868e-05
CIC	23152	broad.mit.edu	37	19	42791806	42791806	+	Missense_Mutation	SNP	G	G	T			TCGA-TQ-A7RS-01A-12D-A33T-08	TCGA-TQ-A7RS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	373b1912-8893-47f0-8469-57ec821e1abc	40f76fea-b2e1-4943-a1ae-608e9a33f474	g.chr19:42791806G>T	ENST00000572681.2	+	6	3487	c.3419G>T	c.(3418-3420)aGc>aTc	p.S1140I	CIC_ENST00000575354.2_Missense_Mutation_p.S231I|CIC_ENST00000160740.3_Missense_Mutation_p.S231I			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	231	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CGGACCGTCAGCAAGATCCTG	0.622			"Mis, F, S"		oligodendroglioma								45	40					5.37117e-13	6.12064e-13	1	1	0	T	42791806	G	T	42791806	3	4	488	1	0	0	0	0	1	0	0	0	3446	971	34	4	710	4	CIC	19	42791806	Missense_Mutation	SNP	G	TCGA-TQ-A7RS-01A-12D-A33T-08	88	42791806	16337177	30	37467			1	52		2	2	89	N	G_C	9.948868e-05
NLRP4	147945	broad.mit.edu	37	19	56370141	56370141	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RS-01A-12D-A33T-08	TCGA-TQ-A7RS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	373b1912-8893-47f0-8469-57ec821e1abc	40f76fea-b2e1-4943-a1ae-608e9a33f474	g.chr19:56370141C>T	ENST00000301295.6	+	3	1804	c.1382C>T	c.(1381-1383)gCc>gTc	p.A461V	NLRP4_ENST00000587891.1_Missense_Mutation_p.A386V|NLRP4_ENST00000346986.5_Missense_Mutation_p.A461V	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	461	NACHT.						ATP binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		TTCTGTGCCGCCTTGTTCTAT	0.512													33	137					0	0	1	0	0	T	56370141	C	T	56370141	3	4	488	1	0	0	0	0	1	0	0	0	10526	739	26	2	1388	2	NLRP4	19	56370141	Missense_Mutation	SNP	C	TCGA-TQ-A7RS-01A-12D-A33T-08	13578335	56370141	2758842	31	37468											
C20orf194	25943	broad.mit.edu	37	20	3268422	3268422	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RS-01A-12D-A33T-08	TCGA-TQ-A7RS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	373b1912-8893-47f0-8469-57ec821e1abc	40f76fea-b2e1-4943-a1ae-608e9a33f474	g.chr20:3268422C>T	ENST00000252032.9	-	27	2409	c.2342G>A	c.(2341-2343)cGc>cAc	p.R781H	C20orf194_ENST00000453730.2_Silent_p.S489S	NM_001009984.2	NP_001009984.1	Q5TEA3	CT194_HUMAN	chromosome 20 open reading frame 194	781								p.R781H(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	39						CATGATTTGGCGATACACCAT	0.522													4	195					0	0	1	0	0	T	3268422	C	T	3268422	3	4	488	1	0	0	0	0	1	0	0	0	2113	768	27	1	1235	1	C20orf194	20	3268422	Missense_Mutation	SNP	C	TCGA-TQ-A7RS-01A-12D-A33T-08		3268422	59757098	32	37469											
AMELX	265	broad.mit.edu	37	X	11316389	11316389	+	Missense_Mutation	SNP	A	A	T			TCGA-TQ-A7RS-01A-12D-A33T-08	TCGA-TQ-A7RS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	373b1912-8893-47f0-8469-57ec821e1abc	40f76fea-b2e1-4943-a1ae-608e9a33f474	g.chrX:11316389A>T	ENST00000380712.3	+	5	246	c.178A>T	c.(178-180)Agg>Tgg	p.R60W	AMELX_ENST00000348912.4_Missense_Mutation_p.R30W|ARHGAP6_ENST00000380732.3_Intron|ARHGAP6_ENST00000380736.1_Intron|ARHGAP6_ENST00000380718.1_Intron|ARHGAP6_ENST00000413512.3_Intron|ARHGAP6_ENST00000337414.4_Intron|AMELX_ENST00000380714.3_Missense_Mutation_p.R46W	NM_182680.1	NP_872621.1	Q99217	AMELX_HUMAN	amelogenin, X-linked	46					cell adhesion|cell proliferation|chondrocyte differentiation|enamel mineralization|epithelial to mesenchymal transition|ion homeostasis|odontogenesis of dentine-containing tooth|osteoblast differentiation|positive regulation of collagen biosynthetic process|positive regulation of tooth mineralization|signal transduction	proteinaceous extracellular matrix	cell surface binding|growth factor activity|hydroxyapatite binding|identical protein binding|structural constituent of tooth enamel			endometrium(3)|kidney(2)|large_intestine(1)|lung(9)	15						CCAGAGCATAAGGCCACCGGT	0.353													5	482					0	0	1	0	0	T	11316389	A	T	11316389	3	4	488	1	0	0	0	0	1	0	0	0	565	63	3	5	192	5	AMELX	23	11316389	Missense_Mutation	SNP	A	TCGA-TQ-A7RS-01A-12D-A33T-08		11316389	143954171	33	37470											
AMMECR1	9949	broad.mit.edu	37	X	109561295	109561295	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RS-01A-12D-A33T-08	TCGA-TQ-A7RS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	373b1912-8893-47f0-8469-57ec821e1abc	40f76fea-b2e1-4943-a1ae-608e9a33f474	g.chrX:109561295G>A	ENST00000262844.5	-	1	172	c.5C>T	c.(4-6)gCg>gTg	p.A2V	AMMECR1_ENST00000372059.2_Missense_Mutation_p.A2V|AMMECR1_ENST00000372057.1_Intron	NM_015365.2	NP_056180.1	Q9Y4X0	AMER1_HUMAN	Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1	2										large_intestine(1)|lung(4)|ovary(1)|stomach(1)	7						GCAACCCGCCGCCATCTTGGA	0.706													7	17					0	0	1	0	0	A	109561295	G	A	109561295	3	1	488	1	0	0	0	0	1	0	0	0	574	1087	38	1	1020	1	AMMECR1	23	109561295	Missense_Mutation	SNP	G	TCGA-TQ-A7RS-01A-12D-A33T-08	98244906	109561295	45709265	34	37471											
BCORL1	63035	broad.mit.edu	37	X	129149179	129149179	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RS-01A-12D-A33T-08	TCGA-TQ-A7RS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	373b1912-8893-47f0-8469-57ec821e1abc	40f76fea-b2e1-4943-a1ae-608e9a33f474	g.chrX:129149179G>A	ENST00000540052.1	+	3	2475	c.2431G>A	c.(2431-2433)Gca>Aca	p.A811T	BCORL1_ENST00000359304.2_Missense_Mutation_p.A811T|BCORL1_ENST00000303743.5_Missense_Mutation_p.A811T|BCORL1_ENST00000218147.7_Missense_Mutation_p.A811T	NM_021946.4	NP_068765	Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	811					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						CACGGGGCCGGCAAATATTTA	0.572													4	249					0	0	1	0	0	A	129149179	G	A	129149179	3	1	488	1	0	0	0	0	1	0	0	0	1385	1203	42	2	2441	2	BCORL1	23	129149179	Missense_Mutation	SNP	G	TCGA-TQ-A7RS-01A-12D-A33T-08	19587884	129149179	26121381	35	37472											
C4BPA	722	broad.mit.edu	37	1	207307914	207307914	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RU-01A-21D-A34A-08	TCGA-TQ-A7RU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11b5c6b-3b67-49a5-a19d-36f07639b10e	6214b399-4b6a-4834-aa21-779e23a4f457	g.chr1:207307914C>T	ENST00000367070.3	+	9	1444	c.1250C>T	c.(1249-1251)cCc>cTc	p.P417L		NM_000715.3	NP_000706.1	P04003	C4BPA_HUMAN	complement component 4 binding protein, alpha	417	Sushi 6.				complement activation, classical pathway|innate immune response	extracellular region	protein binding	p.P417L(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(1)|urinary_tract(2)	28						ACGTGGAGTCCCCGAACACCA	0.393													19	128					0	0	1	0	0	T	207307914	C	T	207307914	3	4	489	1	0	0	0	0	1	0	0	0	2264	623	22	2	1280	2	C4BPA	1	207307914	Missense_Mutation	SNP	C	TCGA-TQ-A7RU-01A-21D-A34A-08		207307914	41942707	1	37473											
ST3GAL5	8869	broad.mit.edu	37	2	86073608	86073608	+	Silent	SNP	G	G	A			TCGA-TQ-A7RU-01A-21D-A34A-08	TCGA-TQ-A7RU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11b5c6b-3b67-49a5-a19d-36f07639b10e	6214b399-4b6a-4834-aa21-779e23a4f457	g.chr2:86073608G>A	ENST00000377332.3	-	5	849	c.741C>T	c.(739-741)ggC>ggT	p.G247G	ST3GAL5_ENST00000393808.3_Silent_p.G224G|ST3GAL5_ENST00000393805.1_Silent_p.G219G	NM_003896.3	NP_003887.3	Q9UNP4	SIAT9_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 5	247					ganglioside biosynthetic process|protein glycosylation	integral to Golgi membrane|integral to plasma membrane	lactosylceramide alpha-2,3-sialyltransferase activity|neolactotetraosylceramide alpha-2,3-sialyltransferase activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15						ACAGTGGTGCGCCCTCTGGAT	0.348													37	66					0	0	1	0	0	A	86073608	G	A	86073608	2	1	489	1	0	0	0	0	0	0	0	1	15274	1074	38	1		1	ST3GAL5	2	86073608	Silent	SNP	G	TCGA-TQ-A7RU-01A-21D-A34A-08		86073608	157125765	2	37474											
TTN	7273	broad.mit.edu	37	2	179569118	179569118	+	Silent	SNP	C	C	T			TCGA-TQ-A7RU-01A-21D-A34A-08	TCGA-TQ-A7RU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11b5c6b-3b67-49a5-a19d-36f07639b10e	6214b399-4b6a-4834-aa21-779e23a4f457	g.chr2:179569118C>T	ENST00000589042.1	-	106	30203	c.29979G>A	c.(29977-29979)cgG>cgA	p.R9993R	TTN_ENST00000591111.1_Silent_p.R9676R|TTN_ENST00000342992.6_Silent_p.R8749R|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	9676	Glu-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCTGAAGATGCCGTTCCCATG	0.403													5	242					0	0	1	0	0	T	179569118	C	T	179569118	2	4	489	1	0	0	0	0	0	0	0	1	16797	726	26	2		2	TTN	2	179569118	Silent	SNP	C	TCGA-TQ-A7RU-01A-21D-A34A-08	93495510	179569118	63630255	3	37475											
DNAH7	56171	broad.mit.edu	37	2	196619149	196619149	+	Silent	SNP	G	G	A			TCGA-TQ-A7RU-01A-21D-A34A-08	TCGA-TQ-A7RU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11b5c6b-3b67-49a5-a19d-36f07639b10e	6214b399-4b6a-4834-aa21-779e23a4f457	g.chr2:196619149G>A	ENST00000312428.6	-	63	11776	c.11676C>T	c.(11674-11676)taC>taT	p.Y3892Y	DNAH7_ENST00000409063.1_Silent_p.Y375Y	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3892					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						ATTTCCTGGCGTAGTTCTGCT	0.478													29	33					0	0	1	0	0	A	196619149	G	A	196619149	2	1	489	1	0	0	0	0	0	0	0	1	4633	1140	40	1		1	DNAH7	2	196619149	Silent	SNP	G	TCGA-TQ-A7RU-01A-21D-A34A-08	17050031	196619149	46580224	4	37476											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-TQ-A7RU-01A-21D-A34A-08	TCGA-TQ-A7RU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11b5c6b-3b67-49a5-a19d-36f07639b10e	6214b399-4b6a-4834-aa21-779e23a4f457	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								44	62					0	0	1	0	0	T	209113112	C	T	209113112	3	4	489	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-TQ-A7RU-01A-21D-A34A-08	12493963	209113112	34086261	5	37477											
CLSTN2	64084	broad.mit.edu	37	3	140178466	140178466	+	Silent	SNP	C	C	T			TCGA-TQ-A7RU-01A-21D-A34A-08	TCGA-TQ-A7RU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11b5c6b-3b67-49a5-a19d-36f07639b10e	6214b399-4b6a-4834-aa21-779e23a4f457	g.chr3:140178466C>T	ENST00000458420.3	+	7	1267	c.1077C>T	c.(1075-1077)gaC>gaT	p.D359D	RP11-68L1.2_ENST00000503357.1_RNA	NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	359					homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						TCAAGTTTGACGGCAGGCAGG	0.577										HNSCC(16;0.037)			8	51					0	0	1	0	0	T	140178466	C	T	140178466	2	4	489	1	0	0	0	0	0	0	0	1	3585	535	19	1		1	CLSTN2	3	140178466	Silent	SNP	C	TCGA-TQ-A7RU-01A-21D-A34A-08		140178466	57843964	6	37478											
PLS1	5357	broad.mit.edu	37	3	142389859	142389859	+	Missense_Mutation	SNP	G	G	C			TCGA-TQ-A7RU-01A-21D-A34A-08	TCGA-TQ-A7RU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11b5c6b-3b67-49a5-a19d-36f07639b10e	6214b399-4b6a-4834-aa21-779e23a4f457	g.chr3:142389859G>C	ENST00000337777.3	+	4	472	c.259G>C	c.(259-261)Gat>Cat	p.D87H	PLS1_ENST00000497002.1_Missense_Mutation_p.D87H|PLS1_ENST00000457734.2_Missense_Mutation_p.D87H	NM_002670.2	NP_002661.2	Q14651	PLSI_HUMAN	plastin 1	87						cytoplasm	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	27						AAAAAGCAAAGATATCAGCAA	0.323													62	59					0	0	1	0	0	C	142389859	G	C	142389859	3	2	489	1	0	0	0	0	1	0	0	0	12155	942	33	4	269	4	PLS1	3	142389859	Missense_Mutation	SNP	G	TCGA-TQ-A7RU-01A-21D-A34A-08	2211393	142389859	55632571	7	37479											
OCIAD1	54940	broad.mit.edu	37	4	48835438	48835438	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RU-01A-21D-A34A-08	TCGA-TQ-A7RU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11b5c6b-3b67-49a5-a19d-36f07639b10e	6214b399-4b6a-4834-aa21-779e23a4f457	g.chr4:48835438C>T	ENST00000425583.2	+	3	354	c.79C>T	c.(79-81)Cca>Tca	p.P27S	OCIAD1_ENST00000264312.7_Missense_Mutation_p.P27S|OCIAD1_ENST00000513391.2_Missense_Mutation_p.P27S|OCIAD1_ENST00000381473.3_Missense_Mutation_p.P27S|OCIAD1_ENST00000508293.1_Missense_Mutation_p.P27S|OCIAD1_ENST00000444354.2_Missense_Mutation_p.P27S|OCIAD1_ENST00000509122.1_Intron|OCIAD1_ENST00000512981.1_3'UTR|OCIAD1_ENST00000506801.1_Intron|OCIAD1_ENST00000396448.2_Missense_Mutation_p.P27S	NM_001079842.2	NP_001073311.2	Q9NX40	OCAD1_HUMAN	OCIA domain containing 1	27	OCIA.					endosome	protein binding			breast(2)|large_intestine(2)|lung(2)|prostate(1)|skin(2)	9						TGATTACATTCCAACAGAGGA	0.318													23	48					0	0	1	0	0	T	48835438	C	T	48835438	3	4	489	1	0	0	0	0	1	0	0	0	10865	855	30	2	104	2	OCIAD1	4	48835438	Missense_Mutation	SNP	C	TCGA-TQ-A7RU-01A-21D-A34A-08		48835438	142318838	8	37480											
NEK1	4750	broad.mit.edu	37	4	170428869	170428869	+	Silent	SNP	C	C	A			TCGA-TQ-A7RU-01A-21D-A34A-08	TCGA-TQ-A7RU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11b5c6b-3b67-49a5-a19d-36f07639b10e	6214b399-4b6a-4834-aa21-779e23a4f457	g.chr4:170428869C>A	ENST00000439128.2	-	20	2464	c.1824G>T	c.(1822-1824)ctG>ctT	p.L608L	NEK1_ENST00000507142.1_Silent_p.L636L|NEK1_ENST00000512193.1_Silent_p.L539L|NEK1_ENST00000510533.1_Silent_p.L564L|NEK1_ENST00000511633.1_Silent_p.L592L	NM_012224.2	NP_036356.1	Q96PY6	NEK1_HUMAN	NIMA-related kinase 1	608					cell division|cilium assembly|mitosis	nucleus|pericentriolar material	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|stomach(1)	45		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)|KIRC - Kidney renal clear cell carcinoma(143;0.0325)|Kidney(143;0.0385)|LUSC - Lung squamous cell carcinoma(193;0.14)		TCTATACCTTCAGTGATTCGA	0.338													10	32					5.16669e-11	5.43862e-11	1	1	0	A	170428869	C	A	170428869	2	1	489	1	0	0	0	0	0	0	0	1	10368	813	29	5		5	NEK1	4	170428869	Silent	SNP	C	TCGA-TQ-A7RU-01A-21D-A34A-08	121593431	170428869	20725407	9	37481											
SKP2	6502	broad.mit.edu	37	5	36184025	36184025	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RU-01A-21D-A34A-08	TCGA-TQ-A7RU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11b5c6b-3b67-49a5-a19d-36f07639b10e	6214b399-4b6a-4834-aa21-779e23a4f457	g.chr5:36184025C>T	ENST00000274254.5	+	10	1419	c.1145C>T	c.(1144-1146)tCc>tTc	p.S382F	SKP2_ENST00000274255.6_3'UTR	NM_032637.3	NP_116026.1	Q13309	SKP2_HUMAN	S-phase kinase-associated protein 2, E3 ubiquitin protein ligase	0					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|G1/S transition of mitotic cell cycle|S phase of mitotic cell cycle	nucleoplasm|SCF ubiquitin ligase complex	protein binding			breast(1)|central_nervous_system(2)|ovary(1)	4	all_lung(31;5.63e-05)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AAACTCAAGTCCAGCCATAAG	0.353													5	81					0	0	1	0	0	T	36184025	C	T	36184025	3	4	489	1	0	0	0	0	1	0	0	0	14417	855	30	2	1401	2	SKP2	5	36184025	Missense_Mutation	SNP	C	TCGA-TQ-A7RU-01A-21D-A34A-08		36184025	144731235	10	37482											
SOX4	6659	broad.mit.edu	37	6	21595634	21595636	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-TQ-A7RU-01A-21D-A34A-08	TCGA-TQ-A7RU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11b5c6b-3b67-49a5-a19d-36f07639b10e	6214b399-4b6a-4834-aa21-779e23a4f457	g.chr6:21595634_21595636delAGA	ENST00000244745.1	+	1	1663_1665	c.869_871delAGA	c.(868-873)gagaag>gag	p.K292del	SOX4_ENST00000543472.1_In_Frame_Del_p.K292del	NM_003107.2	NP_003098.1	Q06945	SOX4_HUMAN	SRY (sex determining region Y)-box 4	292					canonical Wnt receptor signaling pathway|cardiac ventricle formation|cellular response to glucose stimulus|DNA damage response, detection of DNA damage|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|glial cell development|glial cell proliferation|limb bud formation|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of protein export from nucleus|negative regulation of protein ubiquitination|neural tube formation|neuroepithelial cell differentiation|noradrenergic neuron differentiation|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|positive regulation of insulin secretion|positive regulation of N-terminal peptidyl-lysine acetylation|positive regulation of translation|pro-B cell differentiation|protein stabilization|skeletal system development|spinal cord motor neuron differentiation|sympathetic nervous system development|T cell differentiation	mitochondrion|nucleus	core promoter sequence-specific DNA binding|protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|RNA polymerase II transcription coactivator activity			kidney(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	6	Ovarian(93;0.163)		all cancers(50;0.0751)|Epithelial(50;0.155)			CACCTGGCGGAGAAGAAGGTGAA	0.754													7	18	---	---	---	---						-	21595636	AGA	-	21595634	7	5	489	1	0	1	0	1	0	0	0	0	15007	304	11	0	871	0	SOX4	6	21595634	In_Frame_Del	DEL	AGA	TCGA-TQ-A7RU-01A-21D-A34A-08		21595634	149519433	11	37483											
ITPR3	3710	broad.mit.edu	37	6	33635015	33635015	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RU-01A-21D-A34A-08	TCGA-TQ-A7RU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11b5c6b-3b67-49a5-a19d-36f07639b10e	6214b399-4b6a-4834-aa21-779e23a4f457	g.chr6:33635015G>A	ENST00000374316.5	+	16	2721	c.1661G>A	c.(1660-1662)cGc>cAc	p.R554H	ITPR3_ENST00000605930.1_Missense_Mutation_p.R554H			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	554					activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						CACATGTTCCGCCTGTGCTAC	0.642													8	49					0	0	1	0	0	A	33635015	G	A	33635015	3	1	489	1	0	0	0	0	1	0	0	0	7966	1087	38	1	1719	1	ITPR3	6	33635015	Missense_Mutation	SNP	G	TCGA-TQ-A7RU-01A-21D-A34A-08	12039381	33635015	137480052	12	37484											
MDGA1	266727	broad.mit.edu	37	6	37613989	37613989	+	Missense_Mutation	SNP	T	T	C			TCGA-TQ-A7RU-01A-21D-A34A-08	TCGA-TQ-A7RU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11b5c6b-3b67-49a5-a19d-36f07639b10e	6214b399-4b6a-4834-aa21-779e23a4f457	g.chr6:37613989T>C	ENST00000297153.7	-	12	3396	c.2218A>G	c.(2218-2220)Atc>Gtc	p.I740V	MDGA1_ENST00000434837.3_Missense_Mutation_p.I737V|MDGA1_ENST00000505425.1_Missense_Mutation_p.I737V			Q8NFP4	MDGA1_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 1	737					brain development|neuron migration|spinal cord association neuron differentiation	anchored to plasma membrane				central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	38						GTGTAGTGGATGATGCGGGAG	0.592													10	10					0	0	1	0	0	C	37613989	T	C	37613989	3	2	489	1	0	0	0	0	1	0	0	0	9456	1464	51	3	686	3	MDGA1	6	37613989	Missense_Mutation	SNP	T	TCGA-TQ-A7RU-01A-21D-A34A-08	3978974	37613989	133501078	13	37485											
TDRD6	221400	broad.mit.edu	37	6	46656880	46656880	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RU-01A-21D-A34A-08	TCGA-TQ-A7RU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11b5c6b-3b67-49a5-a19d-36f07639b10e	6214b399-4b6a-4834-aa21-779e23a4f457	g.chr6:46656880C>T	ENST00000544460.1	+	1	1269	c.1015C>T	c.(1015-1017)Cgc>Tgc	p.R339C	TDRD6_ENST00000316081.6_Missense_Mutation_p.R339C	NM_001168359.1	NP_001161831.1	O60522	TDRD6_HUMAN	tudor domain containing 6	339	Tudor 2.				cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			TCGGCCCCAGCGCTGTGCCCA	0.557													33	53					0	0	1	0	0	T	46656880	C	T	46656880	3	4	489	1	0	0	0	0	1	0	0	0	15793	768	27	1	1017	1	TDRD6	6	46656880	Missense_Mutation	SNP	C	TCGA-TQ-A7RU-01A-21D-A34A-08	9042891	46656880	124458187	14	37486											
FHL5	9457	broad.mit.edu	37	6	97052768	97052768	+	Missense_Mutation	SNP	A	A	G			TCGA-TQ-A7RU-01A-21D-A34A-08	TCGA-TQ-A7RU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11b5c6b-3b67-49a5-a19d-36f07639b10e	6214b399-4b6a-4834-aa21-779e23a4f457	g.chr6:97052768A>G	ENST00000326771.2	+	4	682	c.302A>G	c.(301-303)aAg>aGg	p.K101R	FHL5_ENST00000541107.1_Missense_Mutation_p.K101R	NM_020482.4	NP_065228.4	Q5TD97	FHL5_HUMAN	four and a half LIM domains 5	101	LIM zinc-binding 2.					nucleus	zinc ion binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|urinary_tract(1)	27		all_cancers(76;1.57e-07)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00266)|Colorectal(196;0.0341)|Lung NSC(302;0.204)		BRCA - Breast invasive adenocarcinoma(108;0.0948)		TGCTCCTCCAAGTGCTTCCAC	0.512													55	64					0	0	1	0	0	G	97052768	A	G	97052768	3	3	489	1	0	0	0	0	1	0	0	0	5914	72	3	3	308	3	FHL5	6	97052768	Missense_Mutation	SNP	A	TCGA-TQ-A7RU-01A-21D-A34A-08	50395888	97052768	74062299	15	37487											
REV3L	5980	broad.mit.edu	37	6	111710363	111710363	+	Nonsense_Mutation	SNP	G	G	A			TCGA-TQ-A7RU-01A-21D-A34A-08	TCGA-TQ-A7RU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11b5c6b-3b67-49a5-a19d-36f07639b10e	6214b399-4b6a-4834-aa21-779e23a4f457	g.chr6:111710363G>A	ENST00000435970.1	-	9	1390	c.574C>T	c.(574-576)Caa>Taa	p.Q192*	REV3L_ENST00000358835.3_Nonsense_Mutation_p.Q270*|REV3L_ENST00000368805.1_Nonsense_Mutation_p.Q270*|REV3L_ENST00000368802.3_Nonsense_Mutation_p.Q270*			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	270					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		CTTCGCCGTTGCTTTTCATCT	0.373								DNA polymerases (catalytic subunits)					75	152					0	0	1	0	0	A	111710363	G	A	111710363	4	1	489	1	0	0	0	0	0	1	0	0	13292	1328	46	2	8688	2	REV3L	6	111710363	Nonsense_Mutation	SNP	G	TCGA-TQ-A7RU-01A-21D-A34A-08	14657595	111710363	59404704	16	37488											
ZMIZ2	83637	broad.mit.edu	37	7	44805118	44805119	+	Frame_Shift_Ins	INS	-	-	C			TCGA-TQ-A7RU-01A-21D-A34A-08	TCGA-TQ-A7RU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11b5c6b-3b67-49a5-a19d-36f07639b10e	6214b399-4b6a-4834-aa21-779e23a4f457	g.chr7:44805118_44805119insC	ENST00000309315.4	+	16	2305_2306	c.2182_2183insC	c.(2182-2184)gccfs	p.A728fs	ZMIZ2_ENST00000441627.1_Frame_Shift_Ins_p.A728fs|ZMIZ2_ENST00000413916.1_Frame_Shift_Ins_p.A670fs|ZMIZ2_ENST00000265346.7_Frame_Shift_Ins_p.A702fs|ZMIZ2_ENST00000433667.1_Frame_Shift_Ins_p.A696fs	NM_031449.3	NP_113637.3	Q8NF64	ZMIZ2_HUMAN	zinc finger, MIZ-type containing 2	728	Pro-rich.				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear replication fork	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding			breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						CCCCGGCGCTGCCCCCTTTGCC	0.698													6	12	---	---	---	---						C	44805119	-	C	44805118	7	5	489	1	0	1	1	0	0	0	0	0	17755	1319	46	0	2240	0	ZMIZ2	7	44805118	Frame_Shift_Ins	INS	-	TCGA-TQ-A7RU-01A-21D-A34A-08		44805118	114333545	17	37489											
DBF4	10926	broad.mit.edu	37	7	87530171	87530171	+	Missense_Mutation	SNP	A	A	G			TCGA-TQ-A7RU-01A-21D-A34A-08	TCGA-TQ-A7RU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11b5c6b-3b67-49a5-a19d-36f07639b10e	6214b399-4b6a-4834-aa21-779e23a4f457	g.chr7:87530171A>G	ENST00000265728.1	+	10	1406	c.902A>G	c.(901-903)cAg>cGg	p.Q301R		NM_006716.3	NP_006707.1	Q9UBU7	DBF4A_HUMAN	DBF4 homolog (S. cerevisiae)	301					cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle	nucleoplasm	enzyme activator activity|nucleic acid binding|protein binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|skin(3)	28	Esophageal squamous(14;0.00202)	Breast(660;0.0334)				TGTTGCTTGCAGAAATATGAA	0.333													4	138					0	0	1	0	0	G	87530171	A	G	87530171	3	3	489	1	0	0	0	0	1	0	0	0	4272	188	7	3	940	3	DBF4	7	87530171	Missense_Mutation	SNP	A	TCGA-TQ-A7RU-01A-21D-A34A-08	42725053	87530171	71608492	18	37490											
EPO	2056	broad.mit.edu	37	7	100320317	100320317	+	Missense_Mutation	SNP	G	G	T			TCGA-TQ-A7RU-01A-21D-A34A-08	TCGA-TQ-A7RU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11b5c6b-3b67-49a5-a19d-36f07639b10e	6214b399-4b6a-4834-aa21-779e23a4f457	g.chr7:100320317G>T	ENST00000252723.2	+	4	458	c.277G>T	c.(277-279)Ggc>Tgc	p.G93C		NM_000799.2	NP_000790.2	P01588	EPO_HUMAN	erythropoietin	93					blood circulation|cellular hyperosmotic response|erythrocyte maturation|negative regulation of apoptosis|negative regulation of ion transmembrane transporter activity|negative regulation of sodium ion transport|positive regulation of cell proliferation|positive regulation of DNA replication|positive regulation of Ras protein signal transduction|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat5 protein|signal transduction	extracellular space	erythropoietin receptor binding|eukaryotic cell surface binding|hormone activity			central_nervous_system(2)|endometrium(2)|lung(7)|prostate(1)	12	Lung NSC(181;0.041)|all_lung(186;0.0581)				Darbepoetin alfa(DB00012)|Epoetin alfa(DB00016)	AGTCTGGCAGGGCCTGGCCCT	0.657													11	33					2.27111e-07	2.34942e-07	1	1	0	T	100320317	G	T	100320317	3	4	489	1	0	0	0	0	1	0	0	0	5216	1232	43	5	291	5	EPO	7	100320317	Missense_Mutation	SNP	G	TCGA-TQ-A7RU-01A-21D-A34A-08	12790146	100320317	58818346	19	37491											
TRPA1	8989	broad.mit.edu	37	8	72942140	72942140	+	Missense_Mutation	SNP	A	A	G			TCGA-TQ-A7RU-01A-21D-A34A-08	TCGA-TQ-A7RU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11b5c6b-3b67-49a5-a19d-36f07639b10e	6214b399-4b6a-4834-aa21-779e23a4f457	g.chr8:72942140A>G	ENST00000262209.4	-	24	3140	c.2933T>C	c.(2932-2934)aTg>aCg	p.M978T	RP11-383H13.1_ENST00000524152.1_Intron|RP11-383H13.1_ENST00000457356.4_Intron|RP11-383H13.1_ENST00000537896.1_Intron	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	978						integral to plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	ACTTACCTGCATAGCTATCCT	0.388													20	35					0	0	1	0	0	G	72942140	A	G	72942140	3	3	489	1	0	0	0	0	1	0	0	0	16638	217	8	3	442	3	TRPA1	8	72942140	Missense_Mutation	SNP	A	TCGA-TQ-A7RU-01A-21D-A34A-08		72942140	73421882	20	37492											
TMEM70	54968	broad.mit.edu	37	8	74891077	74891077	+	Missense_Mutation	SNP	T	T	G			TCGA-TQ-A7RU-01A-21D-A34A-08	TCGA-TQ-A7RU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11b5c6b-3b67-49a5-a19d-36f07639b10e	6214b399-4b6a-4834-aa21-779e23a4f457	g.chr8:74891077T>G	ENST00000312184.5	+	2	370	c.297T>G	c.(295-297)aaT>aaG	p.N99K	TMEM70_ENST00000517439.1_Missense_Mutation_p.N99K	NM_001040613.2|NM_017866.5	NP_001035703.1|NP_060336.3	Q9BUB7	TMM70_HUMAN	transmembrane protein 70	99					mitochondrial proton-transporting ATP synthase complex assembly	integral to mitochondrial membrane|mitochondrial inner membrane				breast(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)	8	Breast(64;0.0311)		Epithelial(68;0.0186)|BRCA - Breast invasive adenocarcinoma(89;0.0499)|all cancers(69;0.0564)			ATACTGGCAATATGGCCCGAG	0.358													41	47					0	0	1	0	0	G	74891077	T	G	74891077	3	3	489	1	0	0	0	0	1	0	0	0	16259	1403	49	4	303	4	TMEM70	8	74891077	Missense_Mutation	SNP	T	TCGA-TQ-A7RU-01A-21D-A34A-08	1948937	74891077	71472945	21	37493											
SLC7A13	157724	broad.mit.edu	37	8	87229959	87229959	+	Missense_Mutation	SNP	T	T	C			TCGA-TQ-A7RU-01A-21D-A34A-08	TCGA-TQ-A7RU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11b5c6b-3b67-49a5-a19d-36f07639b10e	6214b399-4b6a-4834-aa21-779e23a4f457	g.chr8:87229959T>C	ENST00000297524.3	-	3	1022	c.919A>G	c.(919-921)Ata>Gta	p.I307V	SLC7A13_ENST00000520624.1_5'UTR|SLC7A13_ENST00000419776.2_Missense_Mutation_p.I298V	NM_138817.2	NP_620172.2	Q8TCU3	S7A13_HUMAN	solute carrier family 7 (anionic amino acid transporter), member 13	307						integral to membrane	amino acid transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	45						GATTTAAATATAGAAATCAGA	0.388													15	165					0	0	1	0	0	C	87229959	T	C	87229959	3	2	489	1	0	0	0	0	1	0	0	0	14750	1406	49	3	501	3	SLC7A13	8	87229959	Missense_Mutation	SNP	T	TCGA-TQ-A7RU-01A-21D-A34A-08	12338882	87229959	59134063	22	37494											
COLEC10	10584	broad.mit.edu	37	8	120079533	120079533	+	Missense_Mutation	SNP	G	G	T			TCGA-TQ-A7RU-01A-21D-A34A-08	TCGA-TQ-A7RU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11b5c6b-3b67-49a5-a19d-36f07639b10e	6214b399-4b6a-4834-aa21-779e23a4f457	g.chr8:120079533G>T	ENST00000332843.2	+	1	54	c.13G>T	c.(13-15)Gca>Tca	p.A5S	COLEC10_ENST00000521788.1_Intron|RP11-278I4.2_ENST00000518362.1_RNA	NM_006438.3	NP_006429.2	Q9Y6Z7	COL10_HUMAN	collectin sub-family member 10 (C-type lectin)	5						collagen|cytoplasm	mannose binding			endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21	all_cancers(13;4.13e-26)|Lung NSC(37;1.36e-07)|Ovarian(258;0.018)|Hepatocellular(40;0.234)		STAD - Stomach adenocarcinoma(47;0.00113)			GAATGGCTTTGCATCCTTGCT	0.423													44	59					1.02591e-13	1.09918e-13	1	1	0	T	120079533	G	T	120079533	3	4	489	1	0	0	0	0	1	0	0	0	3733	1319	46	5	15	5	COLEC10	8	120079533	Missense_Mutation	SNP	G	TCGA-TQ-A7RU-01A-21D-A34A-08	32849574	120079533	26284489	23	37495											
GLIS3	169792	broad.mit.edu	37	9	4118080	4118080	+	Silent	SNP	C	C	T			TCGA-TQ-A7RU-01A-21D-A34A-08	TCGA-TQ-A7RU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11b5c6b-3b67-49a5-a19d-36f07639b10e	6214b399-4b6a-4834-aa21-779e23a4f457	g.chr9:4118080C>T	ENST00000324333.10	-	3	1126	c.933G>A	c.(931-933)gcG>gcA	p.A311A	GLIS3_ENST00000381971.3_Silent_p.A466A	NM_152629.3	NP_689842.3	Q8NEA6	GLIS3_HUMAN	GLIS family zinc finger 3	311					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)		GGTGAAGGTGCGCATGGGCAT	0.736													4	31					0	0	1	0	0	T	4118080	C	T	4118080	2	4	489	1	0	0	0	0	0	0	0	1	6489	755	27	1		1	GLIS3	9	4118080	Silent	SNP	C	TCGA-TQ-A7RU-01A-21D-A34A-08		4118080	137095351	24	37496											
CDKN2A	1029	broad.mit.edu	37	9	21994137	21994137	+	Splice_Site	SNP	C	C	T			TCGA-TQ-A7RU-01A-21D-A34A-08	TCGA-TQ-A7RU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11b5c6b-3b67-49a5-a19d-36f07639b10e	6214b399-4b6a-4834-aa21-779e23a4f457	g.chr9:21994137C>T	ENST00000579755.1	-	1	486		c.e1+1		RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000470819.2_Intron|CDKN2A_ENST00000530628.2_Splice_Site|CDKN2A_ENST00000498628.2_Intron|CDKN2A_ENST00000361570.3_Splice_Site|CDKN2A_ENST00000494262.1_Intron			P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A						cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(198)|p.?(2)|p.0(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		GCCTTTCCTACCTGGTCTTCT	0.602		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			6	15					0	0	1	0	0	T	21994137	C	T	21994137	5	4	489	1	0	0	0	0	0	0	1	0	3183	521	18	2	686	2	CDKN2A	9	21994137	Splice_Site	SNP	C	TCGA-TQ-A7RU-01A-21D-A34A-08	17876057	21994137	119219294	25	37497											
MAMDC2	256691	broad.mit.edu	37	9	72723223	72723223	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RU-01A-21D-A34A-08	TCGA-TQ-A7RU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11b5c6b-3b67-49a5-a19d-36f07639b10e	6214b399-4b6a-4834-aa21-779e23a4f457	g.chr9:72723223G>A	ENST00000377182.4	+	3	862	c.245G>A	c.(244-246)cGt>cAt	p.R82H	MAMDC2-AS1_ENST00000414515.3_RNA|MAMDC2-AS1_ENST00000591368.1_RNA	NM_153267.4	NP_694999.3	Q7Z304	MAMC2_HUMAN	MAM domain containing 2	82	MAM 1.					endoplasmic reticulum|membrane				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	14						AGCTGCCTCCGTTTGGTCTAC	0.493													9	59					0	0	1	0	0	A	72723223	G	A	72723223	3	1	489	1	0	0	0	0	1	0	0	0	9253	1145	40	1	255	1	MAMDC2	9	72723223	Missense_Mutation	SNP	G	TCGA-TQ-A7RU-01A-21D-A34A-08	50729086	72723223	68490208	26	37498											
PRKCQ	5588	broad.mit.edu	37	10	6553002	6553002	+	Silent	SNP	C	C	T			TCGA-TQ-A7RU-01A-21D-A34A-08	TCGA-TQ-A7RU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11b5c6b-3b67-49a5-a19d-36f07639b10e	6214b399-4b6a-4834-aa21-779e23a4f457	g.chr10:6553002C>T	ENST00000263125.5	-	3	372	c.273G>A	c.(271-273)tcG>tcA	p.S91S	PRKCQ_ENST00000539722.1_5'UTR|PRKCQ_ENST00000397176.2_Silent_p.S91S	NM_001282644.1|NM_006257.3	NP_001269573.1|NP_006248.1	Q04759	KPCT_HUMAN	protein kinase C, theta	91	C2.				axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth|T cell receptor signaling pathway	cytosol	ATP binding|metal ion binding|protein binding|protein kinase C activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2)	45						TCTCAGCCAGCGAGTAGAGCT	0.468													5	181					0	0	1	0	0	T	6553002	C	T	6553002	2	4	489	1	0	0	0	0	0	0	0	1	12567	755	27	1		1	PRKCQ	10	6553002	Silent	SNP	C	TCGA-TQ-A7RU-01A-21D-A34A-08		6553002	128981745	27	37499											
SAMD8	142891	broad.mit.edu	37	10	76928352	76928352	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RU-01A-21D-A34A-08	TCGA-TQ-A7RU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11b5c6b-3b67-49a5-a19d-36f07639b10e	6214b399-4b6a-4834-aa21-779e23a4f457	g.chr10:76928352G>A	ENST00000372687.4	+	4	813	c.728G>A	c.(727-729)cGc>cAc	p.R243H	SAMD8_ENST00000542569.1_Missense_Mutation_p.R243H|SAMD8_ENST00000372690.3_Missense_Mutation_p.R306H			Q96LT4	SAMD8_HUMAN	sterile alpha motif domain containing 8						sphingomyelin biosynthetic process	integral to membrane				NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)	12	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					TTCTTGCTTCGCTGCTTTACC	0.453													5	208					0	0	1	0	0	A	76928352	G	A	76928352	3	1	489	1	0	0	0	0	1	0	0	0	13877	1087	38	1	738	1	SAMD8	10	76928352	Missense_Mutation	SNP	G	TCGA-TQ-A7RU-01A-21D-A34A-08	70375350	76928352	58606395	28	37500											
FNBP4	23360	broad.mit.edu	37	11	47744591	47744591	+	Silent	SNP	A	A	T			TCGA-TQ-A7RU-01A-21D-A34A-08	TCGA-TQ-A7RU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11b5c6b-3b67-49a5-a19d-36f07639b10e	6214b399-4b6a-4834-aa21-779e23a4f457	g.chr11:47744591A>T	ENST00000263773.5	-	15	2754	c.2742T>A	c.(2740-2742)ccT>ccA	p.P914P		NM_015308.2	NP_056123.2	Q8N3X1	FNBP4_HUMAN	formin binding protein 4	914	Pro-rich.							p.P914P(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	44						gtggtggtggaggaggaggag	0.463													3	13					0	0	1	0	0	T	47744591	A	T	47744591	2	4	489	1	0	0	0	0	0	0	0	1	6000	291	11	5		5	FNBP4	11	47744591	Silent	SNP	A	TCGA-TQ-A7RU-01A-21D-A34A-08		47744591	87261925	29	37501											
FZD4	8322	broad.mit.edu	37	11	86662454	86662454	+	Silent	SNP	T	T	C			TCGA-TQ-A7RU-01A-21D-A34A-08	TCGA-TQ-A7RU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11b5c6b-3b67-49a5-a19d-36f07639b10e	6214b399-4b6a-4834-aa21-779e23a4f457	g.chr11:86662454T>C	ENST00000531380.1	-	2	1649	c.1344A>G	c.(1342-1344)gcA>gcG	p.A448A	PRSS23_ENST00000531521.1_3'UTR|PRSS23_ENST00000533902.2_3'UTR	NM_012193.3	NP_036325.2	Q9ULV1	FZD4_HUMAN	frizzled family receptor 4	448					canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|negative regulation of cell-substrate adhesion|neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|progesterone secretion|regulation of vascular endothelial growth factor receptor signaling pathway|substrate adhesion-dependent cell spreading|vasculogenesis|Wnt receptor signaling pathway, calcium modulating pathway	cell projection|cell surface|cytoplasm	cytokine binding|G-protein coupled receptor activity|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|Wnt receptor activity|Wnt-protein binding			breast(1)|kidney(1)|large_intestine(3)|lung(9)|prostate(6)|skin(1)	21		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				TCACACACGTTGCAGGAACTG	0.393													51	130					0	0	1	0	0	C	86662454	T	C	86662454	2	2	489	1	0	0	0	0	0	0	0	1	6167	1799	63	3		3	FZD4	11	86662454	Silent	SNP	T	TCGA-TQ-A7RU-01A-21D-A34A-08	38917863	86662454	48344062	30	37502											
SLCO1B1	10599	broad.mit.edu	37	12	21353502	21353502	+	Missense_Mutation	SNP	T	T	G			TCGA-TQ-A7RU-01A-21D-A34A-08	TCGA-TQ-A7RU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11b5c6b-3b67-49a5-a19d-36f07639b10e	6214b399-4b6a-4834-aa21-779e23a4f457	g.chr12:21353502T>G	ENST00000256958.2	+	9	1127	c.1031T>G	c.(1030-1032)tTg>tGg	p.L344W		NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family, member 1B1	344					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)	TTTGTGCTTTTGACGTTGTTA	0.328													45	47					0	0	1	0	0	G	21353502	T	G	21353502	3	3	489	1	0	0	0	0	1	0	0	0	14778	1821	63	5	1061	5	SLCO1B1	12	21353502	Missense_Mutation	SNP	T	TCGA-TQ-A7RU-01A-21D-A34A-08		21353502	112498393	31	37503											
OLFM4	10562	broad.mit.edu	37	13	53624470	53624470	+	Missense_Mutation	SNP	A	A	T			TCGA-TQ-A7RU-01A-21D-A34A-08	TCGA-TQ-A7RU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11b5c6b-3b67-49a5-a19d-36f07639b10e	6214b399-4b6a-4834-aa21-779e23a4f457	g.chr13:53624470A>T	ENST00000219022.2	+	5	1175	c.1097A>T	c.(1096-1098)aAt>aTt	p.N366I		NM_006418.4	NP_006409.3	Q6UX06	OLFM4_HUMAN	olfactomedin 4	366	Olfactomedin-like.				cell adhesion	extracellular space				breast(2)|endometrium(4)|kidney(4)|large_intestine(5)|lung(20)|skin(3)|urinary_tract(1)	39		Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.13e-08)		ACTCTCCCTAATGCTGCCTAT	0.403													139	161					0	0	1	0	0	T	53624470	A	T	53624470	3	4	489	1	0	0	0	0	1	0	0	0	10903	101	4	4	1115	4	OLFM4	13	53624470	Missense_Mutation	SNP	A	TCGA-TQ-A7RU-01A-21D-A34A-08		53624470	61545408	32	37504											
SOS2	6655	broad.mit.edu	37	14	50626681	50626681	+	Missense_Mutation	SNP	A	A	T			TCGA-TQ-A7RU-01A-21D-A34A-08	TCGA-TQ-A7RU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11b5c6b-3b67-49a5-a19d-36f07639b10e	6214b399-4b6a-4834-aa21-779e23a4f457	g.chr14:50626681A>T	ENST00000216373.5	-	10	1594	c.1320T>A	c.(1318-1320)aaT>aaA	p.N440K	SOS2_ENST00000555794.1_5'UTR|SOS2_ENST00000543680.1_Missense_Mutation_p.N407K	NM_006939.2	NP_008870.2	Q07890	SOS2_HUMAN	son of sevenless homolog 2 (Drosophila)	440					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	DNA binding|protein binding|Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1)	39	all_epithelial(31;0.000822)|Breast(41;0.0065)					TAATGAATTCATTACAACACT	0.363													80	113					0	0	1	0	0	T	50626681	A	T	50626681	3	4	489	1	0	0	0	0	1	0	0	0	14991	214	8	4	2734	4	SOS2	14	50626681	Missense_Mutation	SNP	A	TCGA-TQ-A7RU-01A-21D-A34A-08		50626681	56722859	33	37505											
SIN3A	25942	broad.mit.edu	37	15	75687040	75687040	+	Missense_Mutation	SNP	A	A	G			TCGA-TQ-A7RU-01A-21D-A34A-08	TCGA-TQ-A7RU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11b5c6b-3b67-49a5-a19d-36f07639b10e	6214b399-4b6a-4834-aa21-779e23a4f457	g.chr15:75687040A>G	ENST00000394947.3	-	14	2572	c.2258T>C	c.(2257-2259)aTt>aCt	p.I753T	SIN3A_ENST00000394949.4_Missense_Mutation_p.I753T|SIN3A_ENST00000360439.4_Missense_Mutation_p.I753T	NM_001145358.1	NP_001138830.1	Q96ST3	SIN3A_HUMAN	SIN3 transcription regulator family member A	753	Interaction with NCOR1 (By similarity).|Interactions with HDAC1 and ARID4B.				blood coagulation|cellular lipid metabolic process|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|Sin3 complex	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	63						GATACTCTCAATCTCATTGAG	0.418													63	155					0	0	1	0	0	G	75687040	A	G	75687040	3	3	489	1	0	0	0	0	1	0	0	0	14380	101	4	3	1595	3	SIN3A	15	75687040	Missense_Mutation	SNP	A	TCGA-TQ-A7RU-01A-21D-A34A-08		75687040	26844352	34	37506											
SRRM2	23524	broad.mit.edu	37	16	2817164	2817164	+	Missense_Mutation	SNP	C	C	A			TCGA-TQ-A7RU-01A-21D-A34A-08	TCGA-TQ-A7RU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11b5c6b-3b67-49a5-a19d-36f07639b10e	6214b399-4b6a-4834-aa21-779e23a4f457	g.chr16:2817164C>A	ENST00000301740.8	+	11	7184	c.6635C>A	c.(6634-6636)cCa>cAa	p.P2212Q		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	2212	Ala-rich.|Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						TCCCAGGTTCCAGCCCCGGTG	0.617													4	84					0.184627	0.184627	1	1	0	A	2817164	C	A	2817164	3	1	489	1	0	0	0	0	1	0	0	0	15225	594	21	5	6673	5	SRRM2	16	2817164	Missense_Mutation	SNP	C	TCGA-TQ-A7RU-01A-21D-A34A-08		2817164	87537589	35	37507											
KCNAB3	9196	broad.mit.edu	37	17	7826851	7826851	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RU-01A-21D-A34A-08	TCGA-TQ-A7RU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11b5c6b-3b67-49a5-a19d-36f07639b10e	6214b399-4b6a-4834-aa21-779e23a4f457	g.chr17:7826851G>A	ENST00000303790.2	-	13	1059	c.1060C>T	c.(1060-1062)Cgc>Tgc	p.R354C		NM_004732.3	NP_004723.2	O43448	KCAB3_HUMAN	potassium voltage-gated channel, shaker-related subfamily, beta member 3	354						cytoplasm|integral to membrane	oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity			breast(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)	8		Prostate(122;0.157)				CCCTCACTGCGGAGACACCAC	0.577													3	14					0	0	1	0	0	A	7826851	G	A	7826851	3	1	489	1	0	0	0	0	1	0	0	0	8055	1116	39	1	162	1	KCNAB3	17	7826851	Missense_Mutation	SNP	G	TCGA-TQ-A7RU-01A-21D-A34A-08		7826851	73368359	36	37508											
EFCAB5	374786	broad.mit.edu	37	17	28380480	28380480	+	Missense_Mutation	SNP	C	C	A			TCGA-TQ-A7RU-01A-21D-A34A-08	TCGA-TQ-A7RU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11b5c6b-3b67-49a5-a19d-36f07639b10e	6214b399-4b6a-4834-aa21-779e23a4f457	g.chr17:28380480C>A	ENST00000394835.3	+	10	1700	c.1508C>A	c.(1507-1509)cCa>cAa	p.P503Q	EFCAB5_ENST00000536908.2_Missense_Mutation_p.P447Q|EFCAB5_ENST00000320856.5_Missense_Mutation_p.P503Q|EFCAB5_ENST00000378738.3_Missense_Mutation_p.P503Q|EFCAB5_ENST00000541045.1_Missense_Mutation_p.P160Q|EFCAB5_ENST00000394832.2_Missense_Mutation_p.P503Q	NM_198529.3	NP_940931	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5	503							calcium ion binding			breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						ACACCATCACCAAACCCGCCA	0.398													4	80					0.014758	0.0150081	1	1	0	A	28380480	C	A	28380480	3	1	489	1	0	0	0	0	1	0	0	0	4964	594	21	5	1546	5	EFCAB5	17	28380480	Missense_Mutation	SNP	C	TCGA-TQ-A7RU-01A-21D-A34A-08	20553629	28380480	52814730	37	37509											
TPM4	7171	broad.mit.edu	37	19	16178536	16178536	+	Silent	SNP	C	C	T			TCGA-TQ-A7RU-01A-21D-A34A-08	TCGA-TQ-A7RU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11b5c6b-3b67-49a5-a19d-36f07639b10e	6214b399-4b6a-4834-aa21-779e23a4f457	g.chr19:16178536C>T	ENST00000538887.1	+	1	189	c.102C>T	c.(100-102)gaC>gaT	p.D34D	TPM4_ENST00000344824.6_Silent_p.D34D			P67936	TPM4_HUMAN	tropomyosin 4	152					cellular component movement|muscle filament sliding|response to oxidative stress	cytosol|muscle thin filament tropomyosin|stress fiber	actin binding|calcium ion binding|structural constituent of muscle		TPM4/ALK(12)	breast(1)|large_intestine(3)	4						CCGCTGAGGACAAGTGCAAGC	0.632			T	ALK	ALCL								28	43					0	0	1	0	0	T	16178536	C	T	16178536	2	4	489	1	0	0	0	0	0	0	0	1	16469	477	17	2		2	TPM4	19	16178536	Silent	SNP	C	TCGA-TQ-A7RU-01A-21D-A34A-08		16178536	42950447	38	37510											
CIC	23152	broad.mit.edu	37	19	42791715	42791715	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RU-01A-21D-A34A-08	TCGA-TQ-A7RU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11b5c6b-3b67-49a5-a19d-36f07639b10e	6214b399-4b6a-4834-aa21-779e23a4f457	g.chr19:42791715C>T	ENST00000572681.2	+	6	3396	c.3328C>T	c.(3328-3330)Cgg>Tgg	p.R1110W	CIC_ENST00000575354.2_Missense_Mutation_p.R201W|CIC_ENST00000160740.3_Missense_Mutation_p.R201W			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	201	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	p.R201W(1)		autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				GGACCACATCCGGCGGCCCAT	0.622			"Mis, F, S"		oligodendroglioma								8	55					0	0	1	0	0	T	42791715	C	T	42791715	3	4	489	1	0	0	0	0	1	0	0	0	3446	643	23	1	619	1	CIC	19	42791715	Missense_Mutation	SNP	C	TCGA-TQ-A7RU-01A-21D-A34A-08	26613179	42791715	16337268	39	37511			1	53		2	2	43	C		6.105105e-05
CIC	23152	broad.mit.edu	37	19	42791757	42791757	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RU-01A-21D-A34A-08	TCGA-TQ-A7RU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11b5c6b-3b67-49a5-a19d-36f07639b10e	6214b399-4b6a-4834-aa21-779e23a4f457	g.chr19:42791757C>T	ENST00000572681.2	+	6	3438	c.3370C>T	c.(3370-3372)Cgg>Tgg	p.R1124W	CIC_ENST00000575354.2_Missense_Mutation_p.R215W|CIC_ENST00000160740.3_Missense_Mutation_p.R215W			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	215	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	p.R215W(4)		autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CAAGCGGCACCGGGCCCTGGT	0.612			"Mis, F, S"		oligodendroglioma								40	24					0	0	1	0	0	T	42791757	C	T	42791757	3	4	489	1	0	0	0	0	1	0	0	0	3446	643	23	1	661	1	CIC	19	42791757	Missense_Mutation	SNP	C	TCGA-TQ-A7RU-01A-21D-A34A-08	42	42791757	16337226	40	37512			1	53		2	2	43	C		6.105105e-05
CALM3	808	broad.mit.edu	37	19	47111535	47111535	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RU-01A-21D-A34A-08	TCGA-TQ-A7RU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11b5c6b-3b67-49a5-a19d-36f07639b10e	6214b399-4b6a-4834-aa21-779e23a4f457	g.chr19:47111535C>T	ENST00000291295.9	+	3	315	c.116C>T	c.(115-117)tCc>tTc	p.S39F	CALM3_ENST00000596362.1_Missense_Mutation_p.S39F|CALM3_ENST00000599839.1_Missense_Mutation_p.S3F|CALM3_ENST00000594523.1_Missense_Mutation_p.S3F|CALM3_ENST00000391918.2_Missense_Mutation_p.S3F|CALM3_ENST00000597743.1_Missense_Mutation_p.S39F|CALM3_ENST00000477244.1_3'UTR|CALM3_ENST00000598871.1_Missense_Mutation_p.S3F	NM_005184.2	NP_005175.2	P62158	CALM_HUMAN	calmodulin 3 (phosphorylase kinase, delta)	39	EF-hand 1.				activation of phospholipase C activity|G-protein coupled receptor protein signaling pathway|glucose metabolic process|glycogen catabolic process|muscle contraction|negative regulation of ryanodine-sensitive calcium-release channel activity|nerve growth factor receptor signaling pathway|nitric oxide metabolic process|platelet activation|platelet degranulation|positive regulation of ryanodine-sensitive calcium-release channel activity|regulation of cytokinesis|regulation of nitric-oxide synthase activity|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to calcium ion|synaptic transmission	centrosome|cytosol|extracellular region|nucleoplasm|plasma membrane|spindle microtubule|spindle pole	calcium ion binding|N-terminal myristoylation domain binding|phospholipase binding|protein domain specific binding|thioesterase binding|titin binding			breast(1)|cervix(2)|endometrium(1)|lung(1)|ovary(1)	6		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000338)|all cancers(93;0.000683)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0341)	Aprindine(DB01429)|Bepridil(DB01244)|Dibucaine(DB00527)|Felodipine(DB01023)|Flunarizine(DB04841)|Fluphenazine(DB00623)|Isoflurane(DB00753)|Loperamide(DB00836)|Miconazole(DB01110)|Perphenazine(DB00850)|Phenoxybenzamine(DB00925)|Pimozide(DB01100)|Promethazine(DB01069)	GTGATGAGATCCCTGGGACAG	0.577													3	26					0	0	1	0	0	T	47111535	C	T	47111535	3	4	489	1	0	0	0	0	1	0	0	0	2604	855	30	2	126	2	CALM3	19	47111535	Missense_Mutation	SNP	C	TCGA-TQ-A7RU-01A-21D-A34A-08	4319778	47111535	12017448	41	37513											
PARD6B	84612	broad.mit.edu	37	20	49354410	49354410	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RU-01A-21D-A34A-08	TCGA-TQ-A7RU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11b5c6b-3b67-49a5-a19d-36f07639b10e	6214b399-4b6a-4834-aa21-779e23a4f457	g.chr20:49354410G>A	ENST00000371610.2	+	2	326	c.83G>A	c.(82-84)cGt>cAt	p.R28H	PARD6B_ENST00000396039.1_Missense_Mutation_p.R28H	NM_032521.2	NP_115910.1	Q9BYG5	PAR6B_HUMAN	par-6 family cell polarity regulator beta	28	OPR.				axonogenesis|cell cycle|cell division|establishment or maintenance of cell polarity|protein complex assembly|regulation of cell migration|tight junction assembly	cytosol|tight junction	protein binding			NS(1)|breast(1)|endometrium(1)|kidney(4)|lung(3)|urinary_tract(1)	11						GCTGAATTTCGTCGGTTTTCG	0.323													27	59					0	0	1	0	0	A	49354410	G	A	49354410	3	1	489	1	0	0	0	0	1	0	0	0	11493	1145	40	1	89	1	PARD6B	20	49354410	Missense_Mutation	SNP	G	TCGA-TQ-A7RU-01A-21D-A34A-08		49354410	13671110	42	37514											
PHF5A	84844	broad.mit.edu	37	22	41863526	41863526	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RU-01A-21D-A34A-08	TCGA-TQ-A7RU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11b5c6b-3b67-49a5-a19d-36f07639b10e	6214b399-4b6a-4834-aa21-779e23a4f457	g.chr22:41863526G>A	ENST00000216252.3	-	3	240	c.169C>T	c.(169-171)Cgc>Tgc	p.R57C	PHF5A_ENST00000491254.1_5'UTR	NM_032758.3	NP_116147.1	Q7RTV0	PHF5A_HUMAN	PHD finger protein 5A	57					nuclear mRNA splicing, via spliceosome|positive regulation of transcription, DNA-dependent	nuclear speck|U12-type spliceosomal complex|U2 snRNP	DNA binding|sequence-specific DNA binding transcription factor activity	p.R57S(1)		central_nervous_system(1)|large_intestine(2)|lung(1)	4						ATCACACAGCGCCCCTGGTAA	0.507													28	50					0	0	1	0	0	A	41863526	G	A	41863526	3	1	489	1	0	0	0	0	1	0	0	0	11885	1087	38	1	171	1	PHF5A	22	41863526	Missense_Mutation	SNP	G	TCGA-TQ-A7RU-01A-21D-A34A-08		41863526	9441040	43	37515											
SMC1A	8243	broad.mit.edu	37	X	53440219	53440219	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RU-01A-21D-A34A-08	TCGA-TQ-A7RU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11b5c6b-3b67-49a5-a19d-36f07639b10e	6214b399-4b6a-4834-aa21-779e23a4f457	g.chrX:53440219G>A	ENST00000322213.4	-	4	705	c.578C>T	c.(577-579)gCg>gTg	p.A193V	SMC1A_ENST00000375340.6_Intron	NM_006306.2	NP_006297.2	Q14683	SMC1A_HUMAN	structural maintenance of chromosomes 1A	193					cell cycle checkpoint|cell division|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic sister chromatid cohesion|mitotic spindle organization|negative regulation of DNA endoreduplication|nuclear mRNA splicing, via spliceosome|response to radiation|signal transduction in response to DNA damage	cohesin core heterodimer|condensed chromosome kinetochore|condensed nuclear chromosome|cytoplasm|meiotic cohesin complex|nucleoplasm	ATP binding|chromatin binding|microtubule motor activity|protein heterodimerization activity			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(8)|ovary(5)|upper_aerodigestive_tract(2)	49						GCGTTCAGCCGCAATATTTTT	0.512													4	102					0	0	1	0	0	A	53440219	G	A	53440219	3	1	489	1	0	0	0	0	1	0	0	0	14835	1087	38	1	3211	1	SMC1A	23	53440219	Missense_Mutation	SNP	G	TCGA-TQ-A7RU-01A-21D-A34A-08		53440219	101830341	44	37516											
BGN	633	broad.mit.edu	37	X	152770284	152770284	+	Silent	SNP	C	C	T			TCGA-TQ-A7RU-01A-21D-A34A-08	TCGA-TQ-A7RU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11b5c6b-3b67-49a5-a19d-36f07639b10e	6214b399-4b6a-4834-aa21-779e23a4f457	g.chrX:152770284C>T	ENST00000331595.4	+	2	381	c.195C>T	c.(193-195)ttC>ttT	p.F65F	BGN_ENST00000480756.1_Intron	NM_001711.4	NP_001702.1	P21810	PGS1_HUMAN	biglycan	65	Cys-rich.					proteinaceous extracellular matrix|transport vesicle	extracellular matrix structural constituent			breast(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)	16	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TGTGTCCTTTCGGCTGCCACT	0.637													76	4					0	0	1	0	0	T	152770284	C	T	152770284	2	4	489	1	0	0	0	0	0	0	0	1	1417	883	31	1		1	BGN	23	152770284	Silent	SNP	C	TCGA-TQ-A7RU-01A-21D-A34A-08	99330065	152770284	2500276	45	37517											
CDA	978	broad.mit.edu	37	1	20940378	20940378	+	Missense_Mutation	SNP	C	C	A			TCGA-TQ-A7RV-01A-21D-A34A-08	TCGA-TQ-A7RV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33b54500-b50b-4368-8406-71015c43b929	c08e86a2-b582-4880-b58b-ee7ac9193ec1	g.chr1:20940378C>A	ENST00000375071.3	+	3	492	c.310C>A	c.(310-312)Caa>Aaa	p.Q104K	CDA_ENST00000461985.1_Intron	NM_001785.2	NP_001776.1	P32320	CDD_HUMAN	cytidine deaminase	104					cell surface receptor linked signaling pathway|cytosine metabolic process|negative regulation of cell growth|negative regulation of nucleotide metabolic process|protein homotetramerization|pyrimidine nucleoside salvage	cytosol|extracellular region	cytidine deaminase activity|nucleoside binding|protein homodimerization activity|zinc ion binding			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|stomach(1)	7		Lung NSC(340;1.75e-08)|all_lung(284;5.99e-08)|Colorectal(325;3.46e-05)|Renal(390;0.000147)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|GBM - Glioblastoma multiforme(114;1.06e-08)|COAD - Colon adenocarcinoma(152;1.22e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000148)|Kidney(64;0.000184)|KIRC - Kidney renal clear cell carcinoma(64;0.0027)|STAD - Stomach adenocarcinoma(196;0.00308)|READ - Rectum adenocarcinoma(331;0.0652)|Lung(427;0.199)	Azacitidine(DB00928)|Capecitabine(DB01101)|Cytarabine(DB00987)|Gemcitabine(DB00441)	GGCCTGCAGGCAAGTCATGAG	0.498													4	94					1	1	1	1	0	A	20940378	C	A	20940378	3	1	490	1	0	0	0	0	1	0	0	0	3074	711	25	5	320	5	CDA	1	20940378	Missense_Mutation	SNP	C	TCGA-TQ-A7RV-01A-21D-A34A-08		20940378	228310243	1	37518											
LCK	3932	broad.mit.edu	37	1	32740031	32740031	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RV-01A-21D-A34A-08	TCGA-TQ-A7RV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33b54500-b50b-4368-8406-71015c43b929	c08e86a2-b582-4880-b58b-ee7ac9193ec1	g.chr1:32740031G>A	ENST00000333070.4	+	2	201	c.101G>A	c.(100-102)gGc>gAc	p.G34D	LCK_ENST00000336890.5_Missense_Mutation_p.G34D|LCK_ENST00000373564.3_Missense_Mutation_p.G34D	NM_001042771.1	NP_001036236.1	P06239	LCK_HUMAN	lymphocyte-specific protein tyrosine kinase	34	Interactions with CD4 and CD8 (By similarity).				activation of caspase activity|cellular zinc ion homeostasis|induction of apoptosis|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of T cell receptor signaling pathway|regulation of defense response to virus by virus|release of sequestered calcium ion into cytosol|response to drug|T cell costimulation|T cell differentiation|T cell receptor signaling pathway|viral reproduction	cytosol|Golgi apparatus|membrane raft|pericentriolar material|plasma membrane	ATP binding|ATPase binding|CD4 receptor binding|CD8 receptor binding|glycoprotein binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol 3-kinase binding|protein C-terminus binding|protein kinase binding|protein serine/threonine phosphatase activity|SH2 domain binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212)			Dasatinib(DB01254)	GATGGCAAGGGCACGGTAAGA	0.532			T	TRB@	T-ALL								20	45					0	0	1	0	0	A	32740031	G	A	32740031	3	1	490	1	0	0	0	0	1	0	0	0	8715	1203	42	2	103	2	LCK	1	32740031	Missense_Mutation	SNP	G	TCGA-TQ-A7RV-01A-21D-A34A-08	11799653	32740031	216510590	2	37519											
DYRK3	8444	broad.mit.edu	37	1	206821946	206821946	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RV-01A-21D-A34A-08	TCGA-TQ-A7RV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33b54500-b50b-4368-8406-71015c43b929	c08e86a2-b582-4880-b58b-ee7ac9193ec1	g.chr1:206821946G>A	ENST00000367106.1	+	4	1816	c.1343G>A	c.(1342-1344)cGc>cAc	p.R448H	DYRK3_ENST00000367108.3_Missense_Mutation_p.R448H|DYRK3_ENST00000489878.1_Intron|DYRK3_ENST00000367109.2_Missense_Mutation_p.R468H			O43781	DYRK3_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 3	468	Protein kinase.				erythrocyte differentiation	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8)|skin(1)|stomach(2)	25	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.166)			GTGGGGGGTCGCTCACGTAGG	0.522													6	243					0	0	1	0	0	A	206821946	G	A	206821946	3	1	490	1	0	0	0	0	1	0	0	0	4883	1087	38	1	1434	1	DYRK3	1	206821946	Missense_Mutation	SNP	G	TCGA-TQ-A7RV-01A-21D-A34A-08	174081915	206821946	42428675	3	37520											
HEATR5B	54497	broad.mit.edu	37	2	37229591	37229591	+	Silent	SNP	C	C	T			TCGA-TQ-A7RV-01A-21D-A34A-08	TCGA-TQ-A7RV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33b54500-b50b-4368-8406-71015c43b929	c08e86a2-b582-4880-b58b-ee7ac9193ec1	g.chr2:37229591C>T	ENST00000233099.5	-	32	5270	c.5175G>A	c.(5173-5175)cgG>cgA	p.R1725R	HEATR5B_ENST00000354531.2_Intron	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	1725							binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				GTGGCATATGCCGTACTAAAA	0.478													4	112					0	0	1	0	0	T	37229591	C	T	37229591	2	4	490	1	0	0	0	0	0	0	0	1	7073	726	26	2		2	HEATR5B	2	37229591	Silent	SNP	C	TCGA-TQ-A7RV-01A-21D-A34A-08		37229591	205969782	4	37521											
EFEMP1	2202	broad.mit.edu	37	2	56103869	56103869	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RV-01A-21D-A34A-08	TCGA-TQ-A7RV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33b54500-b50b-4368-8406-71015c43b929	c08e86a2-b582-4880-b58b-ee7ac9193ec1	g.chr2:56103869C>T	ENST00000394555.2	-	7	1204	c.769G>A	c.(769-771)Gaa>Aaa	p.E257K	EFEMP1_ENST00000424836.2_Intron|EFEMP1_ENST00000355426.3_Missense_Mutation_p.E257K|EFEMP1_ENST00000394554.1_Missense_Mutation_p.E257K	NM_001039348.2|NM_001039349.2	NP_001034437.1|NP_001034438.1	Q12805	FBLN3_HUMAN	EGF containing fibulin-like extracellular matrix protein 1	257	EGF-like 4; calcium-binding (Potential).				negative regulation of chondrocyte differentiation|peptidyl-tyrosine phosphorylation|regulation of transcription, DNA-dependent|visual perception	extracellular space|proteinaceous extracellular matrix	calcium ion binding|epidermal growth factor receptor activity|epidermal growth factor receptor binding|growth factor activity			NS(1)|breast(2)|endometrium(4)|large_intestine(6)|lung(5)|ovary(5)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			GCATCACATTCATTTATATCT	0.308													33	53					0	0	1	0	0	T	56103869	C	T	56103869	3	4	490	1	0	0	0	0	1	0	0	0	4967	835	29	2	732	2	EFEMP1	2	56103869	Missense_Mutation	SNP	C	TCGA-TQ-A7RV-01A-21D-A34A-08	18874278	56103869	187095504	5	37522											
SLC1A4	6509	broad.mit.edu	37	2	65245298	65245298	+	Silent	SNP	C	C	T			TCGA-TQ-A7RV-01A-21D-A34A-08	TCGA-TQ-A7RV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33b54500-b50b-4368-8406-71015c43b929	c08e86a2-b582-4880-b58b-ee7ac9193ec1	g.chr2:65245298C>T	ENST00000234256.3	+	6	1371	c.1128C>T	c.(1126-1128)acC>acT	p.T376T	SLC1A4_ENST00000531327.1_Silent_p.T78T	NM_003038.4	NP_003029.2	P43007	SATT_HUMAN	solute carrier family 1 (glutamate/neutral amino acid transporter), member 4	376					cellular nitrogen compound metabolic process|cognition|synaptic transmission, glutamatergic	intermediate filament|melanosome	chloride channel activity|L-alanine transmembrane transporter activity|L-cystine transmembrane transporter activity|L-hydroxyproline transmembrane transporter activity|L-proline transmembrane transporter activity|L-serine transmembrane transporter activity|L-threonine transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|urinary_tract(1)	13					L-Alanine(DB00160)	TCGGGGCCACCGTGAACATGG	0.517													39	42					0	0	1	0	0	T	65245298	C	T	65245298	2	4	490	1	0	0	0	0	0	0	0	1	14489	639	23	1		1	SLC1A4	2	65245298	Silent	SNP	C	TCGA-TQ-A7RV-01A-21D-A34A-08	9141429	65245298	177954075	6	37523											
REEP1	65055	broad.mit.edu	37	2	86509292	86509292	+	Splice_Site	SNP	C	C	T			TCGA-TQ-A7RV-01A-21D-A34A-08	TCGA-TQ-A7RV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33b54500-b50b-4368-8406-71015c43b929	c08e86a2-b582-4880-b58b-ee7ac9193ec1	g.chr2:86509292C>T	ENST00000165698.5	-	2	249		c.e2+1		REEP1_ENST00000540790.1_Splice_Site|REEP1_ENST00000535845.1_Intron|REEP1_ENST00000541910.1_Splice_Site|REEP1_ENST00000473407.1_Splice_Site|REEP1_ENST00000538924.1_Splice_Site	NM_022912.2	NP_075063.1	Q9H902	REEP1_HUMAN	receptor accessory protein 1						cell death|protein insertion into membrane	integral to membrane|mitochondrial membrane	olfactory receptor binding			breast(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	13						GTGCTACTTACATATTCCTTA	0.463													86	169					0	0	1	0	0	T	86509292	C	T	86509292	5	4	490	1	0	0	0	0	0	0	1	0	13256	492	17	2	584	2	REEP1	2	86509292	Splice_Site	SNP	C	TCGA-TQ-A7RV-01A-21D-A34A-08	21263994	86509292	156690081	7	37524											
TGFBRAP1	9392	broad.mit.edu	37	2	105924248	105924248	+	Missense_Mutation	SNP	G	G	C			TCGA-TQ-A7RV-01A-21D-A34A-08	TCGA-TQ-A7RV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33b54500-b50b-4368-8406-71015c43b929	c08e86a2-b582-4880-b58b-ee7ac9193ec1	g.chr2:105924248G>C	ENST00000393359.2	-	2	937	c.511C>G	c.(511-513)Ctc>Gtc	p.L171V	TGFBRAP1_ENST00000258449.1_Missense_Mutation_p.L171V			Q8WUH2	TGFA1_HUMAN	transforming growth factor, beta receptor associated protein 1	171	CNH.				regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|membrane	SMAD binding|small GTPase regulator activity|transforming growth factor beta receptor binding			central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	31						GCCACAGCGAGGGGCTGCTCG	0.557													45	100					0	0	1	0	0	C	105924248	G	C	105924248	3	2	490	1	0	0	0	0	1	0	0	0	15884	1000	35	4	2115	4	TGFBRAP1	2	105924248	Missense_Mutation	SNP	G	TCGA-TQ-A7RV-01A-21D-A34A-08	19414956	105924248	137275125	8	37525											
SLC35F5	80255	broad.mit.edu	37	2	114513952	114513953	+	Translation_Start_Site	INS	-	-	A			TCGA-TQ-A7RV-01A-21D-A34A-08	TCGA-TQ-A7RV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33b54500-b50b-4368-8406-71015c43b929	c08e86a2-b582-4880-b58b-ee7ac9193ec1	g.chr2:114513952_114513953insA	ENST00000409342.1	-	0	244_245				SLC35F5_ENST00000245680.2_Frame_Shift_Ins_p.R12fs			Q8WV83	S35F5_HUMAN	solute carrier family 35, member F5						transport	integral to membrane				endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|ovary(2)|prostate(3)|skin(1)	20						CCTACCTGGCCTTCCTGCCCCG	0.733													2	4	---	---	---	---						A	114513953	-	A	114513952	6	5	490	1	0	1	1	0	0	0	0	0	14647	681	24	0		0	SLC35F5	2	114513952	Translation_Start_Site	INS	-	TCGA-TQ-A7RV-01A-21D-A34A-08	8589704	114513952	128685421	9	37526											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-TQ-A7RV-01A-21D-A34A-08	TCGA-TQ-A7RV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33b54500-b50b-4368-8406-71015c43b929	c08e86a2-b582-4880-b58b-ee7ac9193ec1	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								36	52					0	0	1	0	0	T	209113112	C	T	209113112	3	4	490	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-TQ-A7RV-01A-21D-A34A-08	94599160	209113112	34086261	10	37527											
ZBTB20	26137	broad.mit.edu	37	3	114070470	114070478	+	In_Frame_Del	DEL	TGCACTGAC	TGCACTGAC	-			TCGA-TQ-A7RV-01A-21D-A34A-08	TCGA-TQ-A7RV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33b54500-b50b-4368-8406-71015c43b929	c08e86a2-b582-4880-b58b-ee7ac9193ec1	g.chr3:114070470_114070478delTGCACTGAC	ENST00000462705.1	-	11	1049_1057	c.228_236delGTCAGTGCA	c.(226-237)cagtcagtgcaa>caa	p.76_79QSVQ>Q	ZBTB20_ENST00000474710.1_In_Frame_Del_p.149_152QSVQ>Q|ZBTB20_ENST00000464560.1_In_Frame_Del_p.76_79QSVQ>Q|ZBTB20_ENST00000393785.2_In_Frame_Del_p.76_79QSVQ>Q|ZBTB20_ENST00000357258.3_In_Frame_Del_p.76_79QSVQ>Q|ZBTB20_ENST00000481632.1_In_Frame_Del_p.76_79QSVQ>Q|ZBTB20_ENST00000471418.1_In_Frame_Del_p.76_79QSVQ>Q	NM_001164343.1	NP_001157815.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	149					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.V78G(1)		breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		AATGAGCTTTTGCACTGACTGCACTGACA	0.598													9	55	---	---	---	---						-	114070478	TGCACTGAC	-	114070470	7	5	490	1	0	1	0	1	0	0	0	0	17588	1812	63	0	1778	0	ZBTB20	3	114070470	In_Frame_Del	DEL	TGCACTGAC	TCGA-TQ-A7RV-01A-21D-A34A-08		114070470	83951960	11	37528											
FAM114A1	92689	broad.mit.edu	37	4	38907402	38907402	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RV-01A-21D-A34A-08	TCGA-TQ-A7RV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33b54500-b50b-4368-8406-71015c43b929	c08e86a2-b582-4880-b58b-ee7ac9193ec1	g.chr4:38907402C>T	ENST00000358869.2	+	6	753	c.577C>T	c.(577-579)Cct>Tct	p.P193S	FAM114A1_ENST00000515037.1_5'UTR	NM_138389.2	NP_612398.2	Q8IWE2	NXP20_HUMAN	family with sequence similarity 114, member A1	193						cytoplasm				haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	20						AGATCAGGGCCCTGCAGAAAG	0.488													6	95					0	0	1	0	0	T	38907402	C	T	38907402	3	4	490	1	0	0	0	0	1	0	0	0	5434	623	22	2	591	2	FAM114A1	4	38907402	Missense_Mutation	SNP	C	TCGA-TQ-A7RV-01A-21D-A34A-08		38907402	152246874	12	37529											
LMBRD2	92255	broad.mit.edu	37	5	36141229	36141229	+	Nonsense_Mutation	SNP	C	C	T			TCGA-TQ-A7RV-01A-21D-A34A-08	TCGA-TQ-A7RV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33b54500-b50b-4368-8406-71015c43b929	c08e86a2-b582-4880-b58b-ee7ac9193ec1	g.chr5:36141229C>T	ENST00000296603.4	-	4	810	c.348G>A	c.(346-348)tgG>tgA	p.W116*		NM_001007527.1	NP_001007528.1	Q68DH5	LMBD2_HUMAN	LMBR1 domain containing 2	116						integral to membrane				breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(31;0.000146)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			ATTGTGACGTCCAATACACTA	0.313													6	103					0	0	1	0	0	T	36141229	C	T	36141229	4	4	490	1	0	0	0	0	0	1	0	0	8884	856	30	2	1799	2	LMBRD2	5	36141229	Nonsense_Mutation	SNP	C	TCGA-TQ-A7RV-01A-21D-A34A-08		36141229	144774031	13	37530											
PCDHAC1	56135	broad.mit.edu	37	5	140308830	140308830	+	Missense_Mutation	SNP	A	A	T			TCGA-TQ-A7RV-01A-21D-A34A-08	TCGA-TQ-A7RV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33b54500-b50b-4368-8406-71015c43b929	c08e86a2-b582-4880-b58b-ee7ac9193ec1	g.chr5:140308830A>T	ENST00000253807.2	+	1	2353	c.2353A>T	c.(2353-2355)Act>Tct	p.T785S	PCDHA12_ENST00000398631.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHAC1_ENST00000409700.3_Missense_Mutation_p.T785S|PCDHA10_ENST00000307360.5_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA5_ENST00000529859.1_Intron	NM_018898.3	NP_061721.2														NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	65			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAATCTTGCCACTGGGGTAGG	0.453													7	141					0	0	1	0	0	T	140308830	A	T	140308830	3	4	490	1	0	0	0	0	1	0	0	0	11579	159	6	5	2355	5	PCDHAC1	5	140308830	Missense_Mutation	SNP	A	TCGA-TQ-A7RV-01A-21D-A34A-08	104167601	140308830	40606430	14	37531											
PCDHGA12	26025	broad.mit.edu	37	5	140810561	140810561	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RV-01A-21D-A34A-08	TCGA-TQ-A7RV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33b54500-b50b-4368-8406-71015c43b929	c08e86a2-b582-4880-b58b-ee7ac9193ec1	g.chr5:140810561C>T	ENST00000252085.3	+	1	377	c.235C>T	c.(235-237)Ccg>Tcg	p.P79S	PCDHGA8_ENST00000398604.2_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB4_ENST00000519479.1_Intron	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1														breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCCCTGAATCCGCGCAGCGG	0.627													16	157					0	0	1	0	0	T	140810561	C	T	140810561	3	4	490	1	0	0	0	0	1	0	0	0	11600	855	30	2	237	2	PCDHGA12	5	140810561	Missense_Mutation	SNP	C	TCGA-TQ-A7RV-01A-21D-A34A-08	501731	140810561	40104699	15	37532											
TNPO3	23534	broad.mit.edu	37	7	128655167	128655169	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-TQ-A7RV-01A-21D-A34A-08	TCGA-TQ-A7RV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33b54500-b50b-4368-8406-71015c43b929	c08e86a2-b582-4880-b58b-ee7ac9193ec1	g.chr7:128655167_128655169delAAG	ENST00000393245.1	-	4	789_791	c.416_418delCTT	c.(415-420)tctttg>ttg	p.S139del	TNPO3_ENST00000482320.1_In_Frame_Del_p.S73del|TNPO3_ENST00000471234.1_In_Frame_Del_p.S139del|TNPO3_ENST00000265388.5_In_Frame_Del_p.S139del|TNPO3_ENST00000471166.1_In_Frame_Del_p.S139del	NM_012470.3	NP_036602.1	Q9Y5L0	TNPO3_HUMAN	transportin 3	139					splicing factor protein import into nucleus	cytoplasm|nucleus	protein binding|receptor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(3)	22						AAAAAAGGCAAAGAAGTCACATC	0.365													8	71	---	---	---	---						-	128655169	AAG	-	128655167	7	5	490	1	0	1	0	1	0	0	0	0	16397	11	1	0	2429	0	TNPO3	7	128655167	In_Frame_Del	DEL	AAG	TCGA-TQ-A7RV-01A-21D-A34A-08		128655167	30483496	16	37533											
ADAM28	10863	broad.mit.edu	37	8	24167482	24167485	+	Splice_Site	DEL	AAGT	AAGT	-			TCGA-TQ-A7RV-01A-21D-A34A-08	TCGA-TQ-A7RV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33b54500-b50b-4368-8406-71015c43b929	c08e86a2-b582-4880-b58b-ee7ac9193ec1	g.chr8:24167482_24167485delAAGT	ENST00000265769.4	+	3	336_337	c.226_227delAAGT	c.(226-228)aag>g	p.K76fs	ADAM28_ENST00000437154.2_Splice_Site_p.K76fs|RP11-624C23.1_ENST00000518988.1_RNA|ADAM28_ENST00000397649.3_5'UTR|RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000523700.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA|ADAM28_ENST00000540823.1_5'UTR	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28	76					proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		GAAAAAAAACAAGTAAGTATCTTT	0.348													8	146	---	---	---	---						-	24167485	AAGT	-	24167482	8	5	490	1	0	1	0	1	0	0	1	0	245	144	5	0	236	0	ADAM28	8	24167482	Splice_Site	DEL	AAGT	TCGA-TQ-A7RV-01A-21D-A34A-08		24167482	122196540	17	37534											
TEX15	56154	broad.mit.edu	37	8	30701411	30701411	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RV-01A-21D-A34A-08	TCGA-TQ-A7RV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33b54500-b50b-4368-8406-71015c43b929	c08e86a2-b582-4880-b58b-ee7ac9193ec1	g.chr8:30701411C>T	ENST00000256246.2	-	1	5197	c.5123G>A	c.(5122-5124)aGg>aAg	p.R1708K		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	1708										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		TTCTAAGTGCCTTTTTTTGTT	0.373													8	117					0	0	1	0	0	T	30701411	C	T	30701411	3	4	490	1	0	0	0	0	1	0	0	0	15838	681	24	2	3262	2	TEX15	8	30701411	Missense_Mutation	SNP	C	TCGA-TQ-A7RV-01A-21D-A34A-08	6533929	30701411	115662611	18	37535											
CHRNA6	8973	broad.mit.edu	37	8	42612159	42612159	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RV-01A-21D-A34A-08	TCGA-TQ-A7RV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33b54500-b50b-4368-8406-71015c43b929	c08e86a2-b582-4880-b58b-ee7ac9193ec1	g.chr8:42612159G>A	ENST00000276410.2	-	4	641	c.286C>T	c.(286-288)Cgc>Tgc	p.R96C	CHRNA6_ENST00000530869.1_5'UTR|CHRNA6_ENST00000534622.1_Missense_Mutation_p.R81C	NM_004198.3	NP_004189.1	Q15825	ACHA6_HUMAN	cholinergic receptor, nicotinic, alpha 6 (neuronal)	96						cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			endometrium(2)|large_intestine(3)|liver(1)|lung(15)|ovary(1)	22	all_lung(13;3.33e-12)|Lung NSC(13;9.17e-11)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00439)|Lung NSC(58;0.0124)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	Lung(22;0.0252)|LUSC - Lung squamous cell carcinoma(45;0.0869)			GGATCCCAGCGCAATTTATAA	0.403													5	85					0	0	1	0	0	A	42612159	G	A	42612159	3	1	490	1	0	0	0	0	1	0	0	0	3409	1087	38	1	1210	1	CHRNA6	8	42612159	Missense_Mutation	SNP	G	TCGA-TQ-A7RV-01A-21D-A34A-08	11910748	42612159	103751863	19	37536											
SCRIB	23513	broad.mit.edu	37	8	144895057	144895057	+	Silent	SNP	G	G	T			TCGA-TQ-A7RV-01A-21D-A34A-08	TCGA-TQ-A7RV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33b54500-b50b-4368-8406-71015c43b929	c08e86a2-b582-4880-b58b-ee7ac9193ec1	g.chr8:144895057G>T	ENST00000356994.2	-	8	723	c.717C>A	c.(715-717)ctC>ctA	p.L239L	SCRIB_ENST00000377533.3_Silent_p.L158L|SCRIB_ENST00000320476.3_Silent_p.L239L	NM_182706.4	NP_874365	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	239	Sufficient for targeting to adherens junction and to inhibit cell proliferation.				activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	cell-cell adherens junction|Scrib-APC-beta-catenin complex	protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			CCAGCCCGCCGAGCTCAGCAG	0.687													5	46					1.23904e-05	1.29667e-05	1	1	0	T	144895057	G	T	144895057	2	4	490	1	0	0	0	0	0	0	0	1	13991	1045	37	5		5	SCRIB	8	144895057	Silent	SNP	G	TCGA-TQ-A7RV-01A-21D-A34A-08	102282898	144895057	1468965	20	37537											
MCM10	55388	broad.mit.edu	37	10	13222503	13222503	+	Missense_Mutation	SNP	C	C	G			TCGA-TQ-A7RV-01A-21D-A34A-08	TCGA-TQ-A7RV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33b54500-b50b-4368-8406-71015c43b929	c08e86a2-b582-4880-b58b-ee7ac9193ec1	g.chr10:13222503C>G	ENST00000378694.1	+	6	901	c.826C>G	c.(826-828)Ctg>Gtg	p.L276V	MCM10_ENST00000484800.2_Missense_Mutation_p.L277V|MCM10_ENST00000378714.3_Missense_Mutation_p.L276V			Q7L590	MCM10_HUMAN	minichromosome maintenance complex component 10	277					cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle	nucleoplasm	metal ion binding|protein binding			central_nervous_system(1)|large_intestine(4)|ovary(2)|skin(1)|stomach(1)	9						ACTGATCAGACTGTCTCAGAT	0.433													30	105					0	0	1	0	0	G	13222503	C	G	13222503	3	3	490	1	0	0	0	0	1	0	0	0	9435	564	20	4	851	4	MCM10	10	13222503	Missense_Mutation	SNP	C	TCGA-TQ-A7RV-01A-21D-A34A-08		13222503	122312244	21	37538											
CTBP2	1488	broad.mit.edu	37	10	126682516	126682516	+	Silent	SNP	G	G	A			TCGA-TQ-A7RV-01A-21D-A34A-08	TCGA-TQ-A7RV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33b54500-b50b-4368-8406-71015c43b929	c08e86a2-b582-4880-b58b-ee7ac9193ec1	g.chr10:126682516G>A	ENST00000309035.6	-	6	2569	c.2439C>T	c.(2437-2439)ggC>ggT	p.G813G	CTBP2_ENST00000531469.1_Silent_p.G273G|CTBP2_ENST00000337195.5_Silent_p.G273G|CTBP2_ENST00000494626.2_Silent_p.G273G|CTBP2_ENST00000334808.6_Silent_p.G341G|CTBP2_ENST00000411419.2_Silent_p.G273G	NM_022802.2	NP_073713.2	P56545	CTBP2_HUMAN	C-terminal binding protein 2	273					negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent|viral genome replication|white fat cell differentiation	cell junction|synapse|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)		CCACCAGGCCGCCACGGGCTG	0.582													4	172					0	0	1	0	0	A	126682516	G	A	126682516	2	1	490	1	0	0	0	0	0	0	0	1	4022	1074	38	1		1	CTBP2	10	126682516	Silent	SNP	G	TCGA-TQ-A7RV-01A-21D-A34A-08	113460013	126682516	8852231	22	37539											
CCDC73	493860	broad.mit.edu	37	11	32697529	32697529	+	Missense_Mutation	SNP	G	G	T			TCGA-TQ-A7RV-01A-21D-A34A-08	TCGA-TQ-A7RV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33b54500-b50b-4368-8406-71015c43b929	c08e86a2-b582-4880-b58b-ee7ac9193ec1	g.chr11:32697529G>T	ENST00000335185.5	-	8	511	c.468C>A	c.(466-468)gaC>gaA	p.D156E	CCDC73_ENST00000534415.1_5'UTR	NM_001008391.2	NP_001008392.2	Q6ZRK6	CCD73_HUMAN	coiled-coil domain containing 73	156										NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	51	Breast(20;0.112)					GCTTATGATAGTCTTCTTTAG	0.323													5	194					0.00116845	0.001195	1	1	0	T	32697529	G	T	32697529	3	4	490	1	0	0	0	0	1	0	0	0	2866	1020	36	4	2815	4	CCDC73	11	32697529	Missense_Mutation	SNP	G	TCGA-TQ-A7RV-01A-21D-A34A-08		32697529	102308987	23	37540											
ABHD4	63874	broad.mit.edu	37	14	23072942	23072942	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RV-01A-21D-A34A-08	TCGA-TQ-A7RV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33b54500-b50b-4368-8406-71015c43b929	c08e86a2-b582-4880-b58b-ee7ac9193ec1	g.chr14:23072942C>T	ENST00000428304.2	+	4	668	c.598C>T	c.(598-600)Cgt>Tgt	p.R200C	ABHD4_ENST00000544562.1_3'UTR	NM_022060.2	NP_071343.2	Q8TB40	ABHD4_HUMAN	abhydrolase domain containing 4	200					lipid catabolic process		hydrolase activity			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(3)|lung(3)|prostate(1)	14	all_cancers(95;5.49e-05)			GBM - Glioblastoma multiforme(265;0.0153)		TGTCCTAGGACGTTCCAATCC	0.567													8	104					0	0	1	0	0	T	23072942	C	T	23072942	3	4	490	1	0	0	0	0	1	0	0	0	84	536	19	1	612	1	ABHD4	14	23072942	Missense_Mutation	SNP	C	TCGA-TQ-A7RV-01A-21D-A34A-08		23072942	84276598	24	37541											
PPL	5493	broad.mit.edu	37	16	4944525	4944525	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RV-01A-21D-A34A-08	TCGA-TQ-A7RV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33b54500-b50b-4368-8406-71015c43b929	c08e86a2-b582-4880-b58b-ee7ac9193ec1	g.chr16:4944525G>A	ENST00000345988.2	-	12	1426	c.1337C>T	c.(1336-1338)cCg>cTg	p.P446L	PPL_ENST00000590782.2_Missense_Mutation_p.P444L	NM_002705.4	NP_002696	O60437	PEPL_HUMAN	periplakin	446					keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						ACACACGGCCGGAGCAATCAG	0.632													4	73					0	0	1	0	0	A	4944525	G	A	4944525	3	1	490	1	0	0	0	0	1	0	0	0	12383	1116	39	1	3977	1	PPL	16	4944525	Missense_Mutation	SNP	G	TCGA-TQ-A7RV-01A-21D-A34A-08		4944525	85410228	25	37542											
SULT1A1	6817	broad.mit.edu	37	16	28617448	28617448	+	Missense_Mutation	SNP	T	T	G	rs35728980		TCGA-TQ-A7RV-01A-21D-A34A-08	TCGA-TQ-A7RV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33b54500-b50b-4368-8406-71015c43b929	c08e86a2-b582-4880-b58b-ee7ac9193ec1	g.chr16:28617448T>G	ENST00000395609.1	-	9	1462	c.704A>C	c.(703-705)aAc>aCc	p.N235T	SULT1A1_ENST00000569554.1_Missense_Mutation_p.N235T|SULT1A1_ENST00000395607.1_Missense_Mutation_p.N235T|SULT1A1_ENST00000350842.4_Missense_Mutation_p.N157T|SULT1A1_ENST00000314752.7_Missense_Mutation_p.N235T			P50225	ST1A1_HUMAN	sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1	235			N -> T (in dbSNP:rs35728980).		3'-phosphoadenosine 5'-phosphosulfate metabolic process|catecholamine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|xenobiotic metabolic process	cytosol	aryl sulfotransferase activity|flavonol 3-sulfotransferase activity			endometrium(2)|kidney(7)|large_intestine(2)|lung(2)|ovary(1)|stomach(2)	16						GGTCATAGGGTTCTTCTTCAT	0.572													6	285					0	0	1	0	0	G	28617448	T	G	28617448	3	3	490	1	0	0	0	0	1	0	0	0	15428	1725	60	5	191	5	SULT1A1	16	28617448	Missense_Mutation	SNP	T	TCGA-TQ-A7RV-01A-21D-A34A-08	23672923	28617448	61737305	26	37543											
PKD1L2	114780	broad.mit.edu	37	16	81142879	81142879	+	RNA	SNP	T	T	C			TCGA-TQ-A7RV-01A-21D-A34A-08	TCGA-TQ-A7RV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33b54500-b50b-4368-8406-71015c43b929	c08e86a2-b582-4880-b58b-ee7ac9193ec1	g.chr16:81142879T>C	ENST00000534142.1	-	0	1393				PKD1L2_ENST00000525539.1_RNA|PKD1L2_ENST00000533478.1_RNA			Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						GAACGGAGTTTCCAACCAAAT	0.522													6	20					0	0	1	0	0	C	81142879	T	C	81142879	1	2	490	0	1	0	0	0	0	0	0	0	12013	1792	62	3		3	PKD1L2	16	81142879	RNA	SNP	T	TCGA-TQ-A7RV-01A-21D-A34A-08	52525431	81142879	9211874	27	37544											
ZNF276	92822	broad.mit.edu	37	16	89799951	89799951	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RV-01A-21D-A34A-08	TCGA-TQ-A7RV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33b54500-b50b-4368-8406-71015c43b929	c08e86a2-b582-4880-b58b-ee7ac9193ec1	g.chr16:89799951G>A	ENST00000289816.5	+	8	1429	c.1117G>A	c.(1117-1119)Gct>Act	p.A373T	ZNF276_ENST00000446326.2_Missense_Mutation_p.A234T|ZNF276_ENST00000443381.2_Missense_Mutation_p.A448T|ZNF276_ENST00000568064.1_Missense_Mutation_p.A356T	NM_152287.3	NP_689500.2	Q8N554	ZN276_HUMAN	zinc finger protein 276	448					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)	14		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		GTACCGAGGCGCTGACGGCAT	0.622													24	52					0	0	1	0	0	A	89799951	G	A	89799951	3	1	490	1	0	0	0	0	1	0	0	0	17869	1087	38	1	1372	1	ZNF276	16	89799951	Missense_Mutation	SNP	G	TCGA-TQ-A7RV-01A-21D-A34A-08	8657072	89799951	554802	28	37545											
TP53	7157	broad.mit.edu	37	17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	rs121913343		TCGA-TQ-A7RV-01A-21D-A34A-08	TCGA-TQ-A7RV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33b54500-b50b-4368-8406-71015c43b929	c08e86a2-b582-4880-b58b-ee7ac9193ec1	g.chr17:7577121G>A	ENST00000420246.2	-	8	949	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron|TP53_ENST00000269305.4_Missense_Mutation_p.R273C|TP53_ENST00000359597.4_Missense_Mutation_p.R273C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	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).		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.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			7	25					0	0	1	0	0	A	7577121	G	A	7577121	3	1	490	1	0	0	0	0	1	0	0	0	16442	1087	38	1	469	1	TP53	17	7577121	Missense_Mutation	SNP	G	TCGA-TQ-A7RV-01A-21D-A34A-08		7577121	73618089	29	37546											
TP53	7157	broad.mit.edu	37	17	7577539	7577539	+	Missense_Mutation	SNP	G	G	A	rs121912651		TCGA-TQ-A7RV-01A-21D-A34A-08	TCGA-TQ-A7RV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33b54500-b50b-4368-8406-71015c43b929	c08e86a2-b582-4880-b58b-ee7ac9193ec1	g.chr17:7577539G>A	ENST00000420246.2	-	7	874	c.742C>T	c.(742-744)Cgg>Tgg	p.R248W	TP53_ENST00000455263.2_Missense_Mutation_p.R248W|TP53_ENST00000445888.2_Missense_Mutation_p.R248W|TP53_ENST00000413465.2_Missense_Mutation_p.R248W|TP53_ENST00000269305.4_Missense_Mutation_p.R248W|TP53_ENST00000359597.4_Missense_Mutation_p.R248W	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	248	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R248W(544)|p.R155W(28)|p.R248G(12)|p.0?(8)|p.?(5)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.N247_R248>KW(2)|p.M246_P250delMNRRP(2)|p.R248fs*97(2)|p.R248R(2)|p.R248fs*>39(1)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(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)		ATGGGCCTCCGGTTCATGCCG	0.577	R248W(786O_KIDNEY)|R248W(CAS1_CENTRAL_NERVOUS_SYSTEM)|R248W(COLO320_LARGE_INTESTINE)|R248W(COLO680N_OESOPHAGUS)|R248W(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(GCT_SOFT_TISSUE)|R248W(HCC2157_BREAST)|R248W(JIMT1_BREAST)|R248W(KO52_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(LUDLU1_LUNG)|R248W(LXF289_LUNG)|R248W(MIAPACA2_PANCREAS)|R248W(RD_SOFT_TISSUE)|R248W(SW837_LARGE_INTESTINE)|R248W(VCAP_PROSTATE)	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)			40	34					0	0	1	0	0	A	7577539	G	A	7577539	3	1	490	1	0	0	0	0	1	0	0	0	16442	1115	39	1	548	1	TP53	17	7577539	Missense_Mutation	SNP	G	TCGA-TQ-A7RV-01A-21D-A34A-08	418	7577539	73617671	30	37547											
SMARCA4	6597	broad.mit.edu	37	19	11141499	11141499	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RV-01A-21D-A34A-08	TCGA-TQ-A7RV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33b54500-b50b-4368-8406-71015c43b929	c08e86a2-b582-4880-b58b-ee7ac9193ec1	g.chr19:11141499G>A	ENST00000358026.2	+	25	3760	c.3476G>A	c.(3475-3477)gGg>gAg	p.G1159E	SMARCA4_ENST00000344626.4_Missense_Mutation_p.G1159E|SMARCA4_ENST00000590574.1_Missense_Mutation_p.G1159E|SMARCA4_ENST00000429416.3_Missense_Mutation_p.G1159E|SMARCA4_ENST00000450717.3_Missense_Mutation_p.G1159E|SMARCA4_ENST00000589677.1_Missense_Mutation_p.G1159E|SMARCA4_ENST00000413806.3_Missense_Mutation_p.G1159E|SMARCA4_ENST00000541122.2_Missense_Mutation_p.G1159E|SMARCA4_ENST00000444061.3_Missense_Mutation_p.G1159E	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	1159	Helicase C-terminal.				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.L1161fs*3(1)|p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				ACCCGGGCTGGGGGGCTCGGC	0.617			"F, N, Mis"		NSCLC								3	15					0	0	1	0	0	A	11141499	G	A	11141499	3	1	490	1	0	0	0	0	1	0	0	0	14824	1232	43	2	3570	2	SMARCA4	19	11141499	Missense_Mutation	SNP	G	TCGA-TQ-A7RV-01A-21D-A34A-08		11141499	47987484	31	37548											
MAST1	22983	broad.mit.edu	37	19	12969474	12969474	+	Silent	SNP	C	C	T			TCGA-TQ-A7RV-01A-21D-A34A-08	TCGA-TQ-A7RV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33b54500-b50b-4368-8406-71015c43b929	c08e86a2-b582-4880-b58b-ee7ac9193ec1	g.chr19:12969474C>T	ENST00000251472.4	+	12	1326	c.1287C>T	c.(1285-1287)gcC>gcT	p.A429A	MAST1_ENST00000591495.1_Silent_p.A425A	NM_014975.2	NP_055790.1	Q9Y2H9	MAST1_HUMAN	microtubule associated serine/threonine kinase 1	429	Protein kinase.				cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						TCACCTTCGCCGAGAACCCGT	0.572													16	37					0	0	1	0	0	T	12969474	C	T	12969474	2	4	490	1	0	0	0	0	0	0	0	1	9374	639	23	1		1	MAST1	19	12969474	Silent	SNP	C	TCGA-TQ-A7RV-01A-21D-A34A-08	1827975	12969474	46159509	32	37549											
KLK6	5653	broad.mit.edu	37	19	51462421	51462421	+	Nonstop_Mutation	SNP	C	C	A			TCGA-TQ-A7RV-01A-21D-A34A-08	TCGA-TQ-A7RV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33b54500-b50b-4368-8406-71015c43b929	c08e86a2-b582-4880-b58b-ee7ac9193ec1	g.chr19:51462421C>A	ENST00000376851.3	-	6	1173	c.734G>T	c.(733-735)tGa>tTa	p.*245L	KLK6_ENST00000310157.2_Nonstop_Mutation_p.*245L|KLK6_ENST00000376853.4_Missense_Mutation_p.D117Y|KLK6_ENST00000456750.2_Nonstop_Mutation_p.*138L|KLK6_ENST00000391808.1_Nonstop_Mutation_p.*138L|CTB-147C22.8_ENST00000601506.1_RNA|KLK6_ENST00000594641.1_Nonstop_Mutation_p.*245L	NM_001012964.1	NP_001012982.1	Q92876	KLK6_HUMAN	kallikrein-related peptidase 6	0					amyloid precursor protein metabolic process|central nervous system development|collagen catabolic process|hormone metabolic process|myelination|positive regulation of G-protein coupled receptor protein signaling pathway|protein autoprocessing|proteolysis|regulation of cell differentiation|tissue regeneration	endoplasmic reticulum|extracellular region|microsome|mitochondrion|nucleolus	protein binding|serine-type endopeptidase activity			endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|skin(4)	13		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00372)|GBM - Glioblastoma multiforme(134;0.00871)		ATGTCAGGGTCACTTGGCCTG	0.547													5	160					5.9392e-07	6.36343e-07	1	1	0	A	51462421	C	A	51462421	4	1	490	1	0	0	0	0	0	0	0	0	8451	837	29	5	4	5	KLK6	19	51462421	Nonstop_Mutation	SNP	C	TCGA-TQ-A7RV-01A-21D-A34A-08	38492947	51462421	7666562	33	37550											
SMC1B	27127	broad.mit.edu	37	22	45804658	45804660	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-TQ-A7RV-01A-21D-A34A-08	TCGA-TQ-A7RV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33b54500-b50b-4368-8406-71015c43b929	c08e86a2-b582-4880-b58b-ee7ac9193ec1	g.chr22:45804658_45804660delAGA	ENST00000357450.4	-	2	228_230	c.229_231delTCT	c.(229-231)tctdel	p.S77del	SMC1B_ENST00000404354.3_In_Frame_Del_p.S77del	NM_148674.3	NP_683515.3	Q8NDV3	SMC1B_HUMAN	structural maintenance of chromosomes 1B	77					chromosome organization|meiosis	chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus	ATP binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		TTACACTTGCAGAAGAAGAAATA	0.291													7	110	---	---	---	---						-	45804660	AGA	-	45804658	7	5	490	1	0	1	0	1	0	0	0	0	14836	175	7	0	3572	0	SMC1B	22	45804658	In_Frame_Del	DEL	AGA	TCGA-TQ-A7RV-01A-21D-A34A-08		45804658	5499908	34	37551											
ATRX	546	broad.mit.edu	37	X	76938182	76938183	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-TQ-A7RV-01A-21D-A34A-08	TCGA-TQ-A7RV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33b54500-b50b-4368-8406-71015c43b929	c08e86a2-b582-4880-b58b-ee7ac9193ec1	g.chrX:76938182_76938183delTG	ENST00000373344.5	-	9	2779_2780	c.2565_2566delCA	c.(2563-2568)cacagcfs	p.HS855fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.HS817fs	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	855					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)	CCTTTTTTGCTGTGTTTCTCAT	0.356			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						48	56	---	---	---	---						-	76938183	TG	-	76938182	7	5	490	1	0	1	0	1	0	0	0	0	1206	1580	55	0	5020	0	ATRX	23	76938182	Frame_Shift_Del	DEL	TG	TCGA-TQ-A7RV-01A-21D-A34A-08		76938182	78332378	35	37552											
ZNF711	7552	broad.mit.edu	37	X	84526116	84526117	+	Frame_Shift_Del	DEL	AT	AT	-			TCGA-TQ-A7RV-01A-21D-A34A-08	TCGA-TQ-A7RV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33b54500-b50b-4368-8406-71015c43b929	c08e86a2-b582-4880-b58b-ee7ac9193ec1	g.chrX:84526116_84526117delAT	ENST00000360700.4	+	10	2592_2593	c.1706_1707delAT	c.(1705-1707)catfs	p.H569fs	ZNF711_ENST00000542798.1_Frame_Shift_Del_p.H365fs|ZNF711_ENST00000395402.1_Frame_Shift_Del_p.H531fs|ZNF711_ENST00000373165.3_Frame_Shift_Del_p.H523fs|ZNF711_ENST00000276123.3_Frame_Shift_Del_p.H523fs			Q9Y462	ZN711_HUMAN	zinc finger protein 711	523					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(3)|skin(4)	28						CTCAAGAAACATATGAGAACCC	0.396													7	36	---	---	---	---						-	84526117	AT	-	84526116	7	5	490	1	0	1	0	1	0	0	0	0	18172	217	8	0	1594	0	ZNF711	23	84526116	Frame_Shift_Del	DEL	AT	TCGA-TQ-A7RV-01A-21D-A34A-08	7587934	84526116	70744444	36	37553											
ZSWIM5	57643	broad.mit.edu	37	1	45486434	45486434	+	Missense_Mutation	SNP	G	G	C			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr1:45486434G>C	ENST00000359600.5	-	12	2681	c.2476C>G	c.(2476-2478)Ctg>Gtg	p.L826V		NM_020883.1	NP_065934.1	Q9P217	ZSWM5_HUMAN	zinc finger, SWIM-type containing 5	826							zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|liver(1)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					ATTGCTTCCAGAATTGTTCGG	0.433													11	420					0	0	1	0	0	C	45486434	G	C	45486434	3	2	491	1	0	0	0	0	1	0	0	0	18284	933	33	4	1093	4	ZSWIM5	1	45486434	Missense_Mutation	SNP	G	TCGA-TQ-A7RW-01A-11D-A33T-08		45486434	203764187	1	37554											
CD1A	909	broad.mit.edu	37	1	158226059	158226059	+	Silent	SNP	T	T	C			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr1:158226059T>C	ENST00000289429.5	+	3	1124	c.591T>C	c.(589-591)caT>caC	p.H197H		NM_001763.2	NP_001754.2	P06126	CD1A_HUMAN	CD1a molecule	197	Ig-like.				antigen processing and presentation|immune response	endosome membrane|integral to plasma membrane|MHC class I protein complex				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	32	all_hematologic(112;0.0378)				Antithymocyte globulin(DB00098)	GAAAGGCACATCTCCAGCGGC	0.453													6	168					0	0	1	0	0	C	158226059	T	C	158226059	2	2	491	1	0	0	0	0	0	0	0	1	2996	1432	50	3		3	CD1A	1	158226059	Silent	SNP	T	TCGA-TQ-A7RW-01A-11D-A33T-08	112739625	158226059	91024562	2	37555											
XCL2	6846	broad.mit.edu	37	1	168510202	168510202	+	Silent	SNP	G	G	A	rs149372418	byFrequency	TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr1:168510202G>A	ENST00000367819.2	-	3	365	c.333C>T	c.(331-333)acC>acT	p.T111T		NM_003175.3	NP_003166.1	Q9UBD3	XCL2_HUMAN	chemokine (C motif) ligand 2	111					blood circulation|chemotaxis|immune response|signal transduction	extracellular space	chemokine activity	p.T111T(1)		large_intestine(1)|lung(6)|ovary(1)	8	all_hematologic(923;0.215)					AGCCAGTCAGGGTCACAGCTG	0.498													4	80					0	0	1	0	0	A	168510202	G	A	168510202	2	1	491	1	0	0	0	0	0	0	0	1	17484	1219	43	2		2	XCL2	1	168510202	Silent	SNP	G	TCGA-TQ-A7RW-01A-11D-A33T-08	10284143	168510202	80740419	3	37556											
KMO	8564	broad.mit.edu	37	1	241753558	241753558	+	Frame_Shift_Del	DEL	A	A	-			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr1:241753558delA	ENST00000366559.4	+	14	1564	c.1253delA	c.(1252-1254)caafs	p.Q418fs	KMO_ENST00000366558.3_Frame_Shift_Del_p.Q405fs|KMO_ENST00000366557.4_Frame_Shift_Del_p.Q384fs	NM_003679.4	NP_003670.2	O15229	KMO_HUMAN	kynurenine 3-monooxygenase (kynurenine 3-hydroxylase)	418					pyridine nucleotide biosynthetic process|response to salt stress	cytosol|integral to membrane|mitochondrial outer membrane	electron carrier activity|flavin adenine dinucleotide binding|kynurenine 3-monooxygenase activity|NAD(P)H oxidase activity			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)	33	Ovarian(103;0.103)|all_lung(81;0.23)		OV - Ovarian serous cystadenocarcinoma(106;0.0176)			TGGCATTGGCAAAAAAAGGTT	0.313													7	213	---	---	---	---						-	241753558	A	-	241753558	7	5	491	1	0	1	0	1	0	0	0	0	8467	130	5	0	1307	0	KMO	1	241753558	Frame_Shift_Del	DEL	A	TCGA-TQ-A7RW-01A-11D-A33T-08	73243356	241753558	7497063	4	37557											
BCL11A	53335	broad.mit.edu	37	2	60688207	60688207	+	Missense_Mutation	SNP	A	A	G	rs147115751		TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr2:60688207A>G	ENST00000335712.6	-	4	2067	c.1840T>C	c.(1840-1842)Tcg>Ccg	p.S614P	BCL11A_ENST00000359629.5_Intron|BCL11A_ENST00000538214.1_Missense_Mutation_p.S580P|BCL11A_ENST00000537768.1_Missense_Mutation_p.S283P|BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000356842.4_Missense_Mutation_p.S614P|BCL11A_ENST00000358510.4_Missense_Mutation_p.S580P	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)	614					negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			AGGCCCCCCGAGGCCGACTCG	0.667			T	IGH@	B-CLL								25	42					0	0	1	0	0	G	60688207	A	G	60688207	3	3	491	1	0	0	0	0	1	0	0	0	1361	304	11	3	777	3	BCL11A	2	60688207	Missense_Mutation	SNP	A	TCGA-TQ-A7RW-01A-11D-A33T-08		60688207	182511166	5	37558											
RANBP2	5903	broad.mit.edu	37	2	109368336	109368336	+	Silent	SNP	C	C	T			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr2:109368336C>T	ENST00000283195.6	+	12	1767	c.1641C>T	c.(1639-1641)aaC>aaT	p.N547N		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	547					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						GACCTGGAAACGTAGCAAAAT	0.358													165	305					0	0	1	0	0	T	109368336	C	T	109368336	2	4	491	1	0	0	0	0	0	0	0	1	13080	535	19	1		1	RANBP2	2	109368336	Silent	SNP	C	TCGA-TQ-A7RW-01A-11D-A33T-08	48680129	109368336	133831037	6	37559											
CWC22	57703	broad.mit.edu	37	2	180810352	180810352	+	Missense_Mutation	SNP	T	T	G			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr2:180810352T>G	ENST00000410053.3	-	20	2530	c.2231A>C	c.(2230-2232)cAa>cCa	p.Q744P	CWC22_ENST00000295749.6_Missense_Mutation_p.Q744P	NM_020943.2	NP_065994.1	Q9HCG8	CWC22_HUMAN	CWC22 spliceosome-associated protein homolog (S. cerevisiae)	744						catalytic step 2 spliceosome	protein binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(8)|stomach(1)	30						TCTTTCTTTTTGTTTCCTATC	0.393													7	117					0	0	1	0	0	G	180810352	T	G	180810352	3	3	491	1	0	0	0	0	1	0	0	0	4091	1812	63	5	499	5	CWC22	2	180810352	Missense_Mutation	SNP	T	TCGA-TQ-A7RW-01A-11D-A33T-08	71442016	180810352	62389021	7	37560											
CWC22	57703	broad.mit.edu	37	2	180810420	180810420	+	Silent	SNP	T	T	C			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr2:180810420T>C	ENST00000410053.3	-	20	2462	c.2163A>G	c.(2161-2163)ggA>ggG	p.G721G	CWC22_ENST00000295749.6_Silent_p.G721G	NM_020943.2	NP_065994.1	Q9HCG8	CWC22_HUMAN	CWC22 spliceosome-associated protein homolog (S. cerevisiae)	721						catalytic step 2 spliceosome	protein binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(8)|stomach(1)	30						TCTTCCCATGTCCCTTCTTTC	0.333													3	59					0	0	1	0	0	C	180810420	T	C	180810420	2	2	491	1	0	0	0	0	0	0	0	1	4091	1654	58	3		3	CWC22	2	180810420	Silent	SNP	T	TCGA-TQ-A7RW-01A-11D-A33T-08	68	180810420	62388953	8	37561											
SF3B1	23451	broad.mit.edu	37	2	198267533	198267533	+	Silent	SNP	A	A	C			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr2:198267533A>C	ENST00000335508.6	-	14	1915	c.1824T>G	c.(1822-1824)acT>acG	p.T608T		NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa						nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding			NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			TAGAGATCATAGTAGCCAGAC	0.398			Mis		myelodysplastic syndrome								5	128					0	0	1	0	0	C	198267533	A	C	198267533	2	2	491	1	0	0	0	0	0	0	0	1	14203	407	15	5		5	SF3B1	2	198267533	Silent	SNP	A	TCGA-TQ-A7RW-01A-11D-A33T-08	17457113	198267533	44931840	9	37562											
MARS2	92935	broad.mit.edu	37	2	198571649	198571650	+	Frame_Shift_Ins	INS	-	-	A			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr2:198571649_198571650insA	ENST00000282276.6	+	1	1563_1564	c.1520_1521insA	c.(1519-1524)ggtactfs	p.T508fs	AC011997.1_ENST00000409845.1_Intron	NM_138395.3	NP_612404.1	Q96GW9	SYMM_HUMAN	methionyl-tRNA synthetase 2, mitochondrial	508					methionyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|methionine-tRNA ligase activity			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	22					L-Methionine(DB00134)	CCCTGGCTGGGTACTGTGCTTC	0.569													15	277	---	---	---	---						A	198571650	-	A	198571649	7	5	491	1	0	1	1	0	0	0	0	0	9367	1261	44	0	1522	0	MARS2	2	198571649	Frame_Shift_Ins	INS	-	TCGA-TQ-A7RW-01A-11D-A33T-08	304116	198571649	44627724	10	37563											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								60	108					0	0	1	0	0	T	209113112	C	T	209113112	3	4	491	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-TQ-A7RW-01A-11D-A33T-08	10541463	209113112	34086261	11	37564											
RQCD1	9125	broad.mit.edu	37	2	219449427	219449427	+	Missense_Mutation	SNP	C	C	G			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr2:219449427C>G	ENST00000273064.6	+	4	788	c.413C>G	c.(412-414)aCc>aGc	p.T138S	RQCD1_ENST00000295701.5_Missense_Mutation_p.T138S|RQCD1_ENST00000542068.1_Missense_Mutation_p.T138S|RQCD1_ENST00000509807.2_Missense_Mutation_p.T138S	NM_005444.2	NP_005435.1	Q92600	RCD1_HUMAN	RCD1 required for cell differentiation1 homolog (S. pombe)	138					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|sex differentiation|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|prostate(3)|skin(1)	15		Renal(207;0.0915)		Epithelial(149;1.13e-06)|all cancers(144;0.000192)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CTCCGGCTCACCAGCCTTGGA	0.438													5	314					0	0	1	0	0	G	219449427	C	G	219449427	3	3	491	1	0	0	0	0	1	0	0	0	13722	507	18	5	427	5	RQCD1	2	219449427	Missense_Mutation	SNP	C	TCGA-TQ-A7RW-01A-11D-A33T-08	10336315	219449427	23749946	12	37565											
NGEF	25791	broad.mit.edu	37	2	233791769	233791769	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr2:233791769G>A	ENST00000264051.3	-	4	789	c.511C>T	c.(511-513)Ctc>Ttc	p.L171F	NGEF_ENST00000373552.4_Missense_Mutation_p.L79F|NGEF_ENST00000409079.1_Missense_Mutation_p.L79F	NM_019850.2	NP_062824.2	Q8N5V2	NGEF_HUMAN	neuronal guanine nucleotide exchange factor	171	Regulatory region; modulates activity toward RHOA, RAC1 and CDC42 (By similarity).				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|growth cone|plasma membrane	Rho guanyl-nucleotide exchange factor activity			central_nervous_system(4)|endometrium(8)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|skin(4)	35		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604)		TGTTCAATGAGGTTTCTCCAG	0.637													37	66					0	0	1	0	0	A	233791769	G	A	233791769	3	1	491	1	0	0	0	0	1	0	0	0	10441	1000	35	2	1669	2	NGEF	2	233791769	Missense_Mutation	SNP	G	TCGA-TQ-A7RW-01A-11D-A33T-08	14342342	233791769	9407604	13	37566											
PPARG	5468	broad.mit.edu	37	3	12475550	12475550	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr3:12475550C>T	ENST00000397026.2	+	9	1741	c.1358C>T	c.(1357-1359)aCg>aTg	p.T453M	PPARG_ENST00000397000.1_3'UTR|PPARG_ENST00000397015.2_Missense_Mutation_p.T447M|PPARG_ENST00000397012.2_Missense_Mutation_p.T447M|PPARG_ENST00000309576.6_Missense_Mutation_p.T447M|PPARG_ENST00000287820.6_Missense_Mutation_p.T475M|PPARG_ENST00000397010.2_Missense_Mutation_p.T447M|PPARG_ENST00000539812.1_3'UTR			P37231	PPARG_HUMAN	peroxisome proliferator-activated receptor gamma	475	Ligand-binding.				activation of caspase activity|cell fate commitment|cell maturation|cellular response to insulin stimulus|epithelial cell differentiation|glucose homeostasis|induction of apoptosis|innate immune response|lipid homeostasis|lipoprotein transport|long-chain fatty acid transport|low-density lipoprotein particle receptor biosynthetic process|monocyte differentiation|negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|placenta development|positive regulation of fat cell differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to lipid|response to low-density lipoprotein particle stimulus|white fat cell differentiation	cytosol|nucleoplasm	activating transcription factor binding|arachidonic acid binding|drug binding|enzyme binding|prostaglandin receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding		PAX8/PPARG(117)	breast(2)|endometrium(4)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20					Atorvastatin(DB01076)|Icosapent(DB00159)|Pioglitazone(DB01132)|Rosiglitazone(DB00412)|Troglitazone(DB00197)	CAGATTGTCACGGAACACGTG	0.527			T	PAX8	follicular thyroid		"Insulin resistance ; lipodystrophy, familial partial L;diabetes mellitus, insulin-resistantI, with acanthosis nigricans and hypertension"						30	164					0	0	1	0	0	T	12475550	C	T	12475550	3	4	491	1	0	0	0	0	1	0	0	0	12344	536	19	1	1450	1	PPARG	3	12475550	Missense_Mutation	SNP	C	TCGA-TQ-A7RW-01A-11D-A33T-08		12475550	185546880	14	37567											
RASSF1	11186	broad.mit.edu	37	3	50378177	50378177	+	Frame_Shift_Del	DEL	C	C	-			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr3:50378177delC	ENST00000359365.4	-	1	166	c.60delG	c.(58-60)gggfs	p.G20fs	RASSF1_ENST00000357043.2_Frame_Shift_Del_p.G20fs|RASSF1_ENST00000488024.1_5'UTR	NM_001206957.1|NM_007182.4|NM_170714.1	NP_001193886.1|NP_009113.3|NP_733832.1	Q9NS23	RASF1_HUMAN	Ras association (RalGDS/AF-6) domain family member 1	20	Mediates interaction with E4F1.				cell cycle arrest|negative regulation of cell cycle arrest|positive regulation of protein ubiquitination|protein stabilization|Ras protein signal transduction|response to DNA damage stimulus	microtubule|microtubule cytoskeleton|microtubule organizing center|nucleus|spindle pole	identical protein binding|protein binding|protein N-terminus binding|zinc ion binding			lung(2)|ovary(1)|skin(1)|urinary_tract(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.000278)|OV - Ovarian serous cystadenocarcinoma(275;0.0015)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		TGCGGCCCTTCCCAGCGCGCC	0.741													2	4	---	---	---	---						-	50378177	C	-	50378177	7	5	491	1	0	1	0	1	0	0	0	0	13136	842	30	0	1149	0	RASSF1	3	50378177	Frame_Shift_Del	DEL	C	TCGA-TQ-A7RW-01A-11D-A33T-08	37902627	50378177	147644253	15	37568											
CRIPAK	285464	broad.mit.edu	37	4	1389462	1389463	+	Frame_Shift_Del	DEL	CG	CG	-			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr4:1389462_1389463delCG	ENST00000324803.4	+	1	4123_4124	c.1163_1164delCG	c.(1162-1164)acgfs	p.T388fs		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	388	Interaction with PAK1.				ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus	endoplasmic reticulum|nucleus|plasma membrane	protein binding			NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			TGCTCACACACGTGCCCATGTG	0.624													7	338	---	---	---	---						-	1389463	CG	-	1389462	7	5	491	1	0	1	0	1	0	0	0	0	3900	536	19	0	1165	0	CRIPAK	4	1389462	Frame_Shift_Del	DEL	CG	TCGA-TQ-A7RW-01A-11D-A33T-08		1389462	189764814	16	37569											
EVC	2121	broad.mit.edu	37	4	5798788	5798788	+	Silent	SNP	G	G	A			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr4:5798788G>A	ENST00000382674.2	+	14	2110	c.1926G>A	c.(1924-1926)ttG>ttA	p.L642L	EVC_ENST00000264956.6_Silent_p.L642L|EVC_ENST00000515113.1_3'UTR			P57679	EVC_HUMAN	Ellis van Creveld syndrome	642					muscle organ development	integral to membrane				NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1)	28		Myeloproliferative disorder(84;0.117)				ACCTGCTGTTGCGCTCAGCCC	0.647													8	68					0	0	1	0	0	A	5798788	G	A	5798788	2	1	491	1	0	0	0	0	0	0	0	1	5313	1310	46	2		2	EVC	4	5798788	Silent	SNP	G	TCGA-TQ-A7RW-01A-11D-A33T-08	4409326	5798788	185355488	17	37570											
CCRN4L	25819	broad.mit.edu	37	4	139966532	139966532	+	Silent	SNP	T	T	A			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr4:139966532T>A	ENST00000280614.2	+	3	1393	c.1200T>A	c.(1198-1200)atT>atA	p.I400I	ELF2_ENST00000515489.1_Intron	NM_012118.2	NP_036250.2	Q9UK39	NOCT_HUMAN	CCR4 carbon catabolite repression 4-like (S. cerevisiae)	400					rhythmic process|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity			kidney(2)|large_intestine(3)|lung(3)|ovary(1)	9	all_hematologic(180;0.162)					AAGAACAGATTGGACCCAACA	0.453													4	216					0	0	1	0	0	A	139966532	T	A	139966532	2	1	491	1	0	0	0	0	0	0	0	1	2973	1800	63	5		5	CCRN4L	4	139966532	Silent	SNP	T	TCGA-TQ-A7RW-01A-11D-A33T-08	134167744	139966532	51187744	18	37571											
ZNF622	90441	broad.mit.edu	37	5	16463248	16463248	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr5:16463248C>T	ENST00000308683.2	-	3	1144	c.1018G>A	c.(1018-1020)Gct>Act	p.A340T		NM_033414.2	NP_219482.1	Q969S3	ZN622_HUMAN	zinc finger protein 622	340						cytoplasm|nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1)	25						AATTCCAAAGCAGCATCGCCA	0.408													6	394					0	0	1	0	0	T	16463248	C	T	16463248	3	4	491	1	0	0	0	0	1	0	0	0	18103	710	25	2	431	2	ZNF622	5	16463248	Missense_Mutation	SNP	C	TCGA-TQ-A7RW-01A-11D-A33T-08		16463248	164452012	19	37572											
SUB1	10923	broad.mit.edu	37	5	32601155	32601155	+	Missense_Mutation	SNP	A	A	G			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr5:32601155A>G	ENST00000265073.4	+	5	477	c.349A>G	c.(349-351)Att>Gtt	p.I117V	SUB1_ENST00000515355.1_Missense_Mutation_p.I117V|SUB1_ENST00000502897.1_Missense_Mutation_p.I117V|SUB1_ENST00000512913.1_Missense_Mutation_p.I117V|SUB1_ENST00000504789.1_3'UTR	NM_006713.3	NP_006704.3	P53999	TCP4_HUMAN	SUB1 homolog (S. cerevisiae)	117					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleolus|transcription factor complex	protein binding|single-stranded DNA binding|transcription coactivator activity			endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	4						GAAGGAACAGATTTCTGACAT	0.313													10	168					0	0	1	0	0	G	32601155	A	G	32601155	3	3	491	1	0	0	0	0	1	0	0	0	15418	333	12	3	363	3	SUB1	5	32601155	Missense_Mutation	SNP	A	TCGA-TQ-A7RW-01A-11D-A33T-08	16137907	32601155	148314105	20	37573											
NNT	23530	broad.mit.edu	37	5	43659378	43659378	+	Missense_Mutation	SNP	A	A	T			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr5:43659378A>T	ENST00000264663.5	+	17	2781	c.2560A>T	c.(2560-2562)Aac>Tac	p.N854Y	NNT_ENST00000512996.2_Missense_Mutation_p.N723Y|NNT_ENST00000344920.4_Missense_Mutation_p.N854Y	NM_012343.3	NP_036475.3	Q13423	NNTM_HUMAN	nicotinamide nucleotide transhydrogenase	854					tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain	NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(6;2.58e-06)				NADH(DB00157)	CTTCCTGCTCAACAACAATCT	0.512													49	92					0	0	1	0	0	T	43659378	A	T	43659378	3	4	491	1	0	0	0	0	1	0	0	0	10557	130	5	5	2622	5	NNT	5	43659378	Missense_Mutation	SNP	A	TCGA-TQ-A7RW-01A-11D-A33T-08	11058223	43659378	137255882	21	37574											
TMEM174	134288	broad.mit.edu	37	5	72469122	72469122	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr5:72469122G>A	ENST00000296776.5	+	1	101	c.52G>A	c.(52-54)Gtc>Atc	p.V18I	TMEM174_ENST00000511737.1_3'UTR	NM_153217.2	NP_694949.1	Q8WUU8	TM174_HUMAN	transmembrane protein 174	18						integral to membrane				endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7		Lung NSC(167;0.0378)|Ovarian(174;0.0908)|Prostate(461;0.165)		OV - Ovarian serous cystadenocarcinoma(47;1.46e-54)		TGTGTTCTCCGTCACTCCTTA	0.582													6	383					0	0	1	0	0	A	72469122	G	A	72469122	3	1	491	1	0	0	0	0	1	0	0	0	16150	1145	40	1	54	1	TMEM174	5	72469122	Missense_Mutation	SNP	G	TCGA-TQ-A7RW-01A-11D-A33T-08	28809744	72469122	108446138	22	37575											
MEGF10	84466	broad.mit.edu	37	5	126753365	126753365	+	Missense_Mutation	SNP	C	C	A	rs141706024		TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr5:126753365C>A	ENST00000274473.6	+	11	1433	c.1166C>A	c.(1165-1167)cCg>cAg	p.P389Q	MEGF10_ENST00000503335.2_Missense_Mutation_p.P389Q|MEGF10_ENST00000418761.2_Missense_Mutation_p.P389Q|MEGF10_ENST00000508365.1_Missense_Mutation_p.P389Q	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10	389	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)		GCCTGCAAGCCGGGCTGGTCA	0.517													13	312					1.02788e-11	1.069e-11	1	1	0	A	126753365	C	A	126753365	3	1	491	1	0	0	0	0	1	0	0	0	9510	652	23	5	1200	5	MEGF10	5	126753365	Missense_Mutation	SNP	C	TCGA-TQ-A7RW-01A-11D-A33T-08	54284243	126753365	54161895	23	37576											
PCDHA9	9752	broad.mit.edu	37	5	140230180	140230180	+	Silent	SNP	G	G	C			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr5:140230180G>C	ENST00000378122.3	+	1	2824	c.2100G>C	c.(2098-2100)ctG>ctC	p.L700L	PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Silent_p.L700L|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron	NM_014005.3	NP_054724.1														breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACGTGTACCTGATCATCGCCA	0.662													66	177					0	0	1	0	0	C	140230180	G	C	140230180	2	2	491	1	0	0	0	0	0	0	0	1	11578	1277	45	5		5	PCDHA9	5	140230180	Silent	SNP	G	TCGA-TQ-A7RW-01A-11D-A33T-08	13476815	140230180	40685080	24	37577											
CD74	972	broad.mit.edu	37	5	149792211	149792211	+	Silent	SNP	G	G	A			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr5:149792211G>A	ENST00000353334.6	-	1	281	c.102C>T	c.(100-102)ggC>ggT	p.G34G	CD74_ENST00000377795.3_Silent_p.G34G|CD74_ENST00000009530.7_Silent_p.G34G|CD74_ENST00000524315.1_Silent_p.G34G	NM_001025159.2|NM_004355.3	NP_001020330.1|NP_004346.1	P04233	HG2A_HUMAN	CD74 molecule, major histocompatibility complex, class II invariant chain	34					antigen processing and presentation of endogenous antigen|cell proliferation|immunoglobulin mediated immune response|intracellular protein transport|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of peptide secretion|positive regulation of B cell proliferation|positive regulation of chemokine (C-X-C motif) ligand 2 production|positive regulation of cytokine-mediated signaling pathway|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|positive regulation of macrophage cytokine production|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation|prostaglandin biosynthetic process|protein complex assembly|regulation of macrophage activation	endoplasmic reticulum membrane|Golgi apparatus|integral to membrane|lysosome|receptor complex	beta-amyloid binding|cytokine receptor activity|identical protein binding|MHC class II protein binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)	5		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CAGGGCGCCGGCCCAGCATGG	0.617			T	ROS1	NSCLC								7	280					0	0	1	0	0	A	149792211	G	A	149792211	2	1	491	1	0	0	0	0	0	0	0	1	3057	1190	42	2		2	CD74	5	149792211	Silent	SNP	G	TCGA-TQ-A7RW-01A-11D-A33T-08	9562031	149792211	31123049	25	37578											
FOXI1	2299	broad.mit.edu	37	5	169533255	169533255	+	Silent	SNP	C	C	T			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr5:169533255C>T	ENST00000449804.2	+	1	339	c.294C>T	c.(292-294)agC>agT	p.S98S	FOXI1_ENST00000306268.6_Silent_p.S98S	NM_012188.4|NM_144769.2	NP_036320.2|NP_658982.1	Q12951	FOXI1_HUMAN	forkhead box I1	98					epidermal cell fate specification|otic placode formation|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding			breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TGCTGCCCAGCGTGTCGGGGC	0.697									Pendred syndrome				5	9					0	0	1	0	0	T	169533255	C	T	169533255	2	4	491	1	0	0	0	0	0	0	0	1	6043	767	27	1		1	FOXI1	5	169533255	Silent	SNP	C	TCGA-TQ-A7RW-01A-11D-A33T-08	19741044	169533255	11382005	26	37579											
DUSP22	56940	broad.mit.edu	37	6	348207	348207	+	Missense_Mutation	SNP	C	C	G			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr6:348207C>G	ENST00000604971.1	+	3	1172	c.59C>G	c.(58-60)tCc>tGc	p.S20C	DUSP22_ENST00000603453.1_Missense_Mutation_p.S20C|DUSP22_ENST00000605863.1_Missense_Mutation_p.S20C|DUSP22_ENST00000419235.2_Missense_Mutation_p.S123C|DUSP22_ENST00000605315.1_Missense_Mutation_p.S20C|DUSP22_ENST00000344450.5_Missense_Mutation_p.S123C|DUSP22_ENST00000605035.1_Missense_Mutation_p.S20C			Q9NRW4	DUS22_HUMAN	dual specificity phosphatase 22	123					apoptosis|cell proliferation|inactivation of MAPK activity|multicellular organismal development|positive regulation of JNK cascade|regulation of cell proliferation|transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(2)	26	all_hematologic(77;0.228)	Breast(5;0.0249)|all_hematologic(90;0.0489)		OV - Ovarian serous cystadenocarcinoma(45;0.0277)|BRCA - Breast invasive adenocarcinoma(62;0.0669)		GCTGGGAGATCCTGTGCCAAC	0.577													11	267					0	0	1	0	0	G	348207	C	G	348207	3	3	491	1	0	0	0	0	1	0	0	0	4847	855	30	5	390	5	DUSP22	6	348207	Missense_Mutation	SNP	C	TCGA-TQ-A7RW-01A-11D-A33T-08		348207	170766860	27	37580			1	54		2	2	14	C		3.401464e-05
DUSP22	56940	broad.mit.edu	37	6	348220	348220	+	Silent	SNP	C	C	G			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr6:348220C>G	ENST00000604971.1	+	3	1185	c.72C>G	c.(70-72)ccC>ccG	p.P24P	DUSP22_ENST00000603453.1_Silent_p.P24P|DUSP22_ENST00000605863.1_Silent_p.P24P|DUSP22_ENST00000419235.2_Silent_p.P127P|DUSP22_ENST00000605315.1_Silent_p.P24P|DUSP22_ENST00000344450.5_Silent_p.P127P|DUSP22_ENST00000605035.1_Silent_p.P24P			Q9NRW4	DUS22_HUMAN	dual specificity phosphatase 22	127					apoptosis|cell proliferation|inactivation of MAPK activity|multicellular organismal development|positive regulation of JNK cascade|regulation of cell proliferation|transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(2)	26	all_hematologic(77;0.228)	Breast(5;0.0249)|all_hematologic(90;0.0489)		OV - Ovarian serous cystadenocarcinoma(45;0.0277)|BRCA - Breast invasive adenocarcinoma(62;0.0669)		GTGCCAACCCCAACGTGGGCT	0.577													7	235					0	0	1	0	0	G	348220	C	G	348220	2	3	491	1	0	0	0	0	0	0	0	1	4847	581	21	5		5	DUSP22	6	348220	Silent	SNP	C	TCGA-TQ-A7RW-01A-11D-A33T-08	13	348220	170766847	28	37581			1	54		2	2	14	C		3.401464e-05
HIST1H2BI	8346	broad.mit.edu	37	6	26273310	26273310	+	Missense_Mutation	SNP	A	A	C			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr6:26273310A>C	ENST00000377733.2	+	1	167	c.107A>C	c.(106-108)gAg>gCg	p.E36A		NM_003525.2	NP_003516.1	P62807	H2B1C_HUMAN	histone cluster 1, H2bi	36					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding			central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(1)|lung(8)|urinary_tract(1)	16						AGCCGCAAGGAGAGCTATTCC	0.577													23	518					0	0	1	0	0	C	26273310	A	C	26273310	3	2	491	1	0	0	0	0	1	0	0	0	7189	304	11	5	109	5	HIST1H2BI	6	26273310	Missense_Mutation	SNP	A	TCGA-TQ-A7RW-01A-11D-A33T-08	25925090	26273310	144841757	29	37582											
ZNF184	7738	broad.mit.edu	37	6	27419434	27419434	+	Missense_Mutation	SNP	G	G	C	rs149207610		TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr6:27419434G>C	ENST00000211936.6	-	6	2188	c.1904C>G	c.(1903-1905)aCt>aGt	p.T635S	ZNF184_ENST00000377419.1_Missense_Mutation_p.T635S	NM_007149.2	NP_009080.2	Q99676	ZN184_HUMAN	zinc finger protein 184	635					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						TTCTGTGTGAGTTTTTTGATG	0.423													10	236					0	0	1	0	0	C	27419434	G	C	27419434	3	2	491	1	0	0	0	0	1	0	0	0	17809	1029	36	4	355	4	ZNF184	6	27419434	Missense_Mutation	SNP	G	TCGA-TQ-A7RW-01A-11D-A33T-08	1146124	27419434	143695633	30	37583											
ME1	4199	broad.mit.edu	37	6	84025055	84025055	+	Silent	SNP	G	G	A			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr6:84025055G>A	ENST00000369705.3	-	6	794	c.678C>T	c.(676-678)gaC>gaT	p.D226D	ME1_ENST00000541327.1_Silent_p.D60D|ME1_ENST00000543031.1_Silent_p.D151D	NM_002395.4	NP_002386.1	P48163	MAOX_HUMAN	malic enzyme 1, NADP(+)-dependent, cytosolic	226					carbohydrate metabolic process|cellular lipid metabolic process|malate metabolic process|NADP biosynthetic process|response to carbohydrate stimulus|response to hormone stimulus	cytosol	ADP binding|electron carrier activity|malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|manganese ion binding|NAD binding|NADP binding	p.D226D(1)		NS(2)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_cancers(76;1.28e-06)|Acute lymphoblastic leukemia(125;5.03e-07)|all_hematologic(105;0.000238)|all_epithelial(107;0.00218)		BRCA - Breast invasive adenocarcinoma(397;0.0641)	NADH(DB00157)	CCATGAATTCGTCCAAAAAAT	0.303													14	178					0	0	1	0	0	A	84025055	G	A	84025055	2	1	491	1	0	0	0	0	0	0	0	1	9467	1136	40	1		1	ME1	6	84025055	Silent	SNP	G	TCGA-TQ-A7RW-01A-11D-A33T-08	56605621	84025055	87090012	31	37584											
TULP4	56995	broad.mit.edu	37	6	158870156	158870156	+	Silent	SNP	G	G	T			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr6:158870156G>T	ENST00000367097.3	+	4	2029	c.672G>T	c.(670-672)gtG>gtT	p.V224V	TULP4_ENST00000367094.2_Silent_p.V224V	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN	tubby like protein 4	224					intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity			endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		TCTTCCTGGTGGAGGACAGCA	0.567													23	117					7.87624e-14	8.27403e-14	1	1	0	T	158870156	G	T	158870156	2	4	491	1	0	0	0	0	0	0	0	1	16838	1335	47	5		5	TULP4	6	158870156	Silent	SNP	G	TCGA-TQ-A7RW-01A-11D-A33T-08	74845101	158870156	12244911	32	37585											
CCR6	1235	broad.mit.edu	37	6	167550390	167550390	+	Missense_Mutation	SNP	T	T	A			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr6:167550390T>A	ENST00000341935.5	+	3	1224	c.672T>A	c.(670-672)ttT>ttA	p.F224L	RP11-517H2.6_ENST00000609590.1_RNA|CCR6_ENST00000400926.2_Missense_Mutation_p.F224L|CCR6_ENST00000349984.4_Missense_Mutation_p.F224L	NM_031409.3	NP_113597.2	P51684	CCR6_HUMAN	chemokine (C-C motif) receptor 6	224					cellular defense response|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|humoral immune response	integral to plasma membrane	C-C chemokine receptor activity			endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)	14		Breast(66;1.53e-05)|Ovarian(120;0.0606)		OV - Ovarian serous cystadenocarcinoma(33;8.21e-20)|BRCA - Breast invasive adenocarcinoma(81;4.55e-06)|GBM - Glioblastoma multiforme(31;0.00507)		TTGGTTTCTTTATCCCTTTGA	0.458													4	198					0	0	1	0	0	A	167550390	T	A	167550390	3	1	491	1	0	0	0	0	1	0	0	0	2967	1751	61	5	678	5	CCR6	6	167550390	Missense_Mutation	SNP	T	TCGA-TQ-A7RW-01A-11D-A33T-08	8680234	167550390	3564677	33	37586											
MLLT4	4301	broad.mit.edu	37	6	168311815	168311815	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr6:168311815C>T	ENST00000366806.2	+	14	1946	c.1804C>T	c.(1804-1806)Cct>Tct	p.P602S	MLLT4_ENST00000447894.2_Missense_Mutation_p.P602S|MLLT4_ENST00000344191.4_Missense_Mutation_p.P602S|MLLT4_ENST00000392108.3_Missense_Mutation_p.P602S|MLLT4_ENST00000392112.1_Missense_Mutation_p.P586S|MLLT4_ENST00000351017.4_Missense_Mutation_p.P602S|MLLT4_ENST00000400822.3_Missense_Mutation_p.P601S			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	602					adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		GCTGATACTACCTGCAAGCAT	0.368			T	MLL	AL								36	131					0	0	1	0	0	T	168311815	C	T	168311815	3	4	491	1	0	0	0	0	1	0	0	0	9677	507	18	2	1858	2	MLLT4	6	168311815	Missense_Mutation	SNP	C	TCGA-TQ-A7RW-01A-11D-A33T-08	761425	168311815	2803252	34	37587											
PPP1R3A	5506	broad.mit.edu	37	7	113517828	113517828	+	Missense_Mutation	SNP	A	A	G			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr7:113517828A>G	ENST00000284601.3	-	4	3387	c.3319T>C	c.(3319-3321)Tgg>Cgg	p.W1107R		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	1107					glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						CAGGATAGCCAGGACAATGAC	0.348													12	238					0	0	1	0	0	G	113517828	A	G	113517828	3	3	491	1	0	0	0	0	1	0	0	0	12420	188	7	3	53	3	PPP1R3A	7	113517828	Missense_Mutation	SNP	A	TCGA-TQ-A7RW-01A-11D-A33T-08		113517828	45620835	35	37588											
EYA1	2138	broad.mit.edu	37	8	72127635	72127635	+	Silent	SNP	A	A	G			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr8:72127635A>G	ENST00000340726.3	-	16	2223	c.1584T>C	c.(1582-1584)agT>agC	p.S528S	EYA1_ENST00000303824.7_Silent_p.S522S|EYA1_ENST00000388740.3_Silent_p.S495S|EYA1_ENST00000388741.2_Silent_p.S494S|EYA1_ENST00000388743.2_Silent_p.S527S|EYA1_ENST00000388742.4_Silent_p.S528S|EYA1_ENST00000419131.1_Silent_p.S493S	NM_000503.4	NP_000494.2	Q99502	EYA1_HUMAN	eyes absent homolog 1 (Drosophila)	528					double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			TTTTAGTTGCACTGTAAATAT	0.338													15	249					0	0	1	0	0	G	72127635	A	G	72127635	2	3	491	1	0	0	0	0	0	0	0	1	5356	156	6	3		3	EYA1	8	72127635	Silent	SNP	A	TCGA-TQ-A7RW-01A-11D-A33T-08		72127635	74236387	36	37589											
RBM12B	389677	broad.mit.edu	37	8	94748551	94748551	+	Missense_Mutation	SNP	C	C	G			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr8:94748551C>G	ENST00000399300.2	-	3	301	c.88G>C	c.(88-90)Gat>Cat	p.D30H	RBM12B_ENST00000520961.1_Intron|RBM12B_ENST00000517700.1_Missense_Mutation_p.D30H	NM_203390.2	NP_976324.2	Q8IXT5	RB12B_HUMAN	RNA binding motif protein 12B	30							nucleotide binding|RNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			ACTCCTCCATCAGGAATAGTC	0.463													11	301					0	0	1	0	0	G	94748551	C	G	94748551	3	3	491	1	0	0	0	0	1	0	0	0	13166	826	29	5	2921	5	RBM12B	8	94748551	Missense_Mutation	SNP	C	TCGA-TQ-A7RW-01A-11D-A33T-08	22620916	94748551	51615471	37	37590			2	55		2	2	37	C		9.419155e-05
RBM12B	389677	broad.mit.edu	37	8	94748587	94748587	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr8:94748587C>T	ENST00000399300.2	-	3	265	c.52G>A	c.(52-54)Gat>Aat	p.D18N	RBM12B_ENST00000520961.1_Intron|RBM12B_ENST00000517700.1_Missense_Mutation_p.D18N	NM_203390.2	NP_976324.2	Q8IXT5	RB12B_HUMAN	RNA binding motif protein 12B	18							nucleotide binding|RNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			TGACGAATATCCACAGGCCCC	0.448													7	245					0	0	1	0	0	T	94748587	C	T	94748587	3	4	491	1	0	0	0	0	1	0	0	0	13166	855	30	2	2957	2	RBM12B	8	94748587	Missense_Mutation	SNP	C	TCGA-TQ-A7RW-01A-11D-A33T-08	36	94748587	51615435	38	37591			2	55		2	2	37	C		9.419155e-05
CSMD3	114788	broad.mit.edu	37	8	113241120	113241120	+	Splice_Site	SNP	C	C	G			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr8:113241120C>G	ENST00000297405.5	-	70	11073	c.10829G>C	c.(10828-10830)gGa>gCa	p.G3610A	CSMD3_ENST00000343508.3_Splice_Site_p.G3570A|CSMD3_ENST00000352409.3_Splice_Site_p.G3540A|CSMD3_ENST00000455883.2_Splice_Site_p.G3441A	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3610						integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CATATTCAGTCCTACaaaata	0.279										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			11	97					0	0	1	0	0	G	113241120	C	G	113241120	5	3	491	1	0	0	0	0	0	0	1	0	3971	869	30	5	302	5	CSMD3	8	113241120	Splice_Site	SNP	C	TCGA-TQ-A7RW-01A-11D-A33T-08	18492533	113241120	33122902	39	37592											
BNC2	54796	broad.mit.edu	37	9	16437000	16437000	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr9:16437000C>T	ENST00000380672.4	-	6	1249	c.1192G>A	c.(1192-1194)Gag>Aag	p.E398K	BNC2_ENST00000380666.2_Missense_Mutation_p.E398K|BNC2_ENST00000380667.2_Missense_Mutation_p.E331K|BNC2_ENST00000545497.1_Missense_Mutation_p.E303K	NM_017637.5	NP_060107.3	Q6ZN30	BNC2_HUMAN	basonuclin 2	398					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		CAGGCTGGCTCGGTTTTGGGC	0.468													40	62					0	0	1	0	0	T	16437000	C	T	16437000	3	4	491	1	0	0	0	0	1	0	0	0	1474	893	31	1	2115	1	BNC2	9	16437000	Missense_Mutation	SNP	C	TCGA-TQ-A7RW-01A-11D-A33T-08		16437000	124776431	40	37593											
IARS	3376	broad.mit.edu	37	9	95033878	95033878	+	Silent	SNP	G	G	A			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr9:95033878G>A	ENST00000375643.3	-	11	1316	c.1050C>T	c.(1048-1050)tgC>tgT	p.C350C	IARS_ENST00000443024.2_Silent_p.C350C|IARS_ENST00000447699.2_Silent_p.C240C|IARS_ENST00000375629.3_5'UTR	NM_013417.2	NP_038203.2	P41252	SYIC_HUMAN	isoleucyl-tRNA synthetase	350					isoleucyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	ATP binding|isoleucine-tRNA ligase activity|protein binding			breast(3)|endometrium(2)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	35					L-Isoleucine(DB00167)	CATCCACAGGGCAAACAGGGA	0.448													4	187					0	0	1	0	0	A	95033878	G	A	95033878	2	1	491	1	0	0	0	0	0	0	0	1	7517	1195	42	2		2	IARS	9	95033878	Silent	SNP	G	TCGA-TQ-A7RW-01A-11D-A33T-08	78596878	95033878	46179553	41	37594											
LCN2	3934	broad.mit.edu	37	9	130912582	130912582	+	Silent	SNP	G	G	A			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr9:130912582G>A	ENST00000540948.1	+	2	277	c.204G>A	c.(202-204)ccG>ccA	p.P68P	LCN2_ENST00000373013.2_Silent_p.P68P|LCN2_ENST00000470902.1_Intron|LCN2_ENST00000372998.1_Silent_p.P68P|LCN2_ENST00000277480.2_Silent_p.P68P|LCN2_ENST00000373017.1_Silent_p.P68P			P80188	NGAL_HUMAN	lipocalin 2	68					apoptosis|innate immune response|regulation of apoptosis|siderophore transport		iron ion binding|transporter activity			central_nervous_system(1)|lung(3)|prostate(2)|skin(1)|urinary_tract(1)	8						ACAAAGACCCGCAAAAGATGT	0.512													4	181					0	0	1	0	0	A	130912582	G	A	130912582	2	1	491	1	0	0	0	0	0	0	0	1	8723	1074	38	1		1	LCN2	9	130912582	Silent	SNP	G	TCGA-TQ-A7RW-01A-11D-A33T-08	35878704	130912582	10300849	42	37595											
FAM171A1	221061	broad.mit.edu	37	10	15255635	15255635	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr10:15255635G>A	ENST00000378116.4	-	8	1958	c.1952C>T	c.(1951-1953)gCg>gTg	p.A651V		NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN	family with sequence similarity 171, member A1	651						integral to membrane				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						CCGGGTGCCCGCATCCTGCAG	0.622													4	168					0	0	1	0	0	A	15255635	G	A	15255635	3	1	491	1	0	0	0	0	1	0	0	0	5520	1087	38	1	724	1	FAM171A1	10	15255635	Missense_Mutation	SNP	G	TCGA-TQ-A7RW-01A-11D-A33T-08		15255635	120279112	43	37596											
CCDC6	8030	broad.mit.edu	37	10	61564269	61564269	+	Missense_Mutation	SNP	A	A	C			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr10:61564269A>C	ENST00000263102.6	-	7	1245	c.1014T>G	c.(1012-1014)aaT>aaG	p.N338K		NM_005436.4	NP_005427.2	Q16204	CCDC6_HUMAN	coiled-coil domain containing 6	338						cytoplasm|cytoskeleton	SH3 domain binding|structural constituent of cytoskeleton		CCDC6/RET(4)	breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(3)|stomach(1)	18				Kidney(211;0.0597)		CAGACATCTCATTAAAATACC	0.448			T	RET	NSCLC								34	59					0	0	1	0	0	C	61564269	A	C	61564269	3	2	491	1	0	0	0	0	1	0	0	0	2850	214	8	4	422	4	CCDC6	10	61564269	Missense_Mutation	SNP	A	TCGA-TQ-A7RW-01A-11D-A33T-08	46308634	61564269	73970478	44	37597											
HKDC1	80201	broad.mit.edu	37	10	71008233	71008233	+	Missense_Mutation	SNP	T	T	A			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr10:71008233T>A	ENST00000354624.5	+	10	1452	c.1319T>A	c.(1318-1320)gTc>gAc	p.V440D	HKDC1_ENST00000395086.2_Missense_Mutation_p.V440D|HKDC1_ENST00000488706.1_3'UTR	NM_025130.3	NP_079406	Q2TB90	HKDC1_HUMAN	hexokinase domain containing 1	440					glycolysis	mitochondrion|nucleus	ATP binding|hexokinase activity	p.V440fs*51(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						AGCTGTGATGTCCGCTTCCTC	0.597													11	181					0	0	1	0	0	A	71008233	T	A	71008233	3	1	491	1	0	0	0	0	1	0	0	0	7234	1667	58	5	1357	5	HKDC1	10	71008233	Missense_Mutation	SNP	T	TCGA-TQ-A7RW-01A-11D-A33T-08	9443964	71008233	64526514	45	37598											
KCNMA1	3778	broad.mit.edu	37	10	78649254	78649254	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr10:78649254C>T	ENST00000286627.5	-	26	4194	c.3242G>A	c.(3241-3243)cGg>cAg	p.R1081Q	KCNMA1_ENST00000404857.1_Missense_Mutation_p.R1122Q|KCNMA1_ENST00000404771.3_Missense_Mutation_p.R1139Q|KCNMA1_ENST00000372440.1_Missense_Mutation_p.R1081Q|RP11-443A13.5_ENST00000429850.2_RNA|KCNMA1_ENST00000286628.8_Missense_Mutation_p.R1139Q|KCNMA1_ENST00000372443.1_Missense_Mutation_p.R1108Q|RP11-443A13.5_ENST00000458661.2_RNA|KCNMA1_ENST00000354353.5_Missense_Mutation_p.R1142Q|RP11-443A13.5_ENST00000595702.1_RNA|KCNMA1_ENST00000406533.3_Missense_Mutation_p.R1143Q|RP11-443A13.5_ENST00000609102.1_RNA	NM_001271519.1|NM_002247.3	NP_001258448.1|NP_002238.2	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1	1139					cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity			breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)	ATCTCTCAGCCGGTAAATTCC	0.438													8	168					0	0	1	0	0	T	78649254	C	T	78649254	3	4	491	1	0	0	0	0	1	0	0	0	8117	652	23	1	331	1	KCNMA1	10	78649254	Missense_Mutation	SNP	C	TCGA-TQ-A7RW-01A-11D-A33T-08	7641021	78649254	56885493	46	37599											
SLK	9748	broad.mit.edu	37	10	105780333	105780333	+	Nonsense_Mutation	SNP	C	C	T			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr10:105780333C>T	ENST00000369755.3	+	17	3954	c.3409C>T	c.(3409-3411)Cag>Tag	p.Q1137*	SLK_ENST00000335753.4_Nonsense_Mutation_p.Q1106*	NM_014720.2	NP_055535.2	Q9H2G2	SLK_HUMAN	STE20-like kinase	1137					apoptosis|nucleotide-excision repair	cytoplasm|plasma membrane	ATP binding|DNA binding|nuclease activity|protein serine/threonine kinase activity			kidney(1)|lung(1)|ovary(2)|skin(2)|stomach(2)	8		Colorectal(252;0.178)		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		TCTTCAGTTGCAGTGTGAAGC	0.458													6	141					0	0	1	0	0	T	105780333	C	T	105780333	4	4	491	1	0	0	0	0	0	1	0	0	14802	711	25	2	3475	2	SLK	10	105780333	Nonsense_Mutation	SNP	C	TCGA-TQ-A7RW-01A-11D-A33T-08	27131079	105780333	29754414	47	37600											
BNIP3	664	broad.mit.edu	37	10	133787409	133787409	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr10:133787409C>T	ENST00000540159.1	-	2	201	c.85G>A	c.(85-87)Ggg>Agg	p.G29R	BNIP3_ENST00000368636.4_Missense_Mutation_p.G29R			Q12983	BNIP3_HUMAN	BCL2/adenovirus E1B 19kDa interacting protein 3	29					cellular response to cobalt ion|cellular response to hypoxia|cellular response to mechanical stimulus|chromatin remodeling|defense response to virus|DNA fragmentation involved in apoptotic nuclear change|induction of apoptosis|interspecies interaction between organisms|mitochondrial fragmentation involved in apoptosis|negative regulation of membrane potential|negative regulation of mitochondrial fusion|negative regulation of survival gene product expression|neuron apoptosis|positive regulation of mitochondrial fission|positive regulation of protein complex disassembly|positive regulation of release of cytochrome c from mitochondria|reactive oxygen species metabolic process|regulation of mitochondrial membrane permeability	dendrite|integral to mitochondrial outer membrane|nuclear envelope|nucleoplasm	GTPase binding|protein heterodimerization activity|protein homodimerization activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|skin(1)	7		all_cancers(35;4e-11)|all_epithelial(44;5.07e-08)|Ovarian(717;2.61e-05)|Lung NSC(174;0.00237)|all_lung(145;0.00354)|Breast(234;0.023)|all_neural(114;0.0299)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)		Epithelial(32;1.59e-12)|all cancers(32;3.75e-11)|OV - Ovarian serous cystadenocarcinoma(35;2.57e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		ACGCTGCCCCCGTTCCCATTA	0.507													12	254					0	0	1	0	0	T	133787409	C	T	133787409	3	4	491	1	0	0	0	0	1	0	0	0	1477	652	23	1	519	1	BNIP3	10	133787409	Missense_Mutation	SNP	C	TCGA-TQ-A7RW-01A-11D-A33T-08	28007076	133787409	1747338	48	37601											
INTS4	92105	broad.mit.edu	37	11	77649841	77649841	+	Missense_Mutation	SNP	C	C	G			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr11:77649841C>G	ENST00000534064.1	-	10	1055	c.1021G>C	c.(1021-1023)Gaa>Caa	p.E341Q	INTS4_ENST00000529807.1_Missense_Mutation_p.E341Q	NM_033547.3	NP_291025.3	Q96HW7	INT4_HUMAN	integrator complex subunit 4	341					snRNA processing	integrator complex	protein binding		INTS4/GAB2(2)	NS(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(5)|upper_aerodigestive_tract(1)	32	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		Epithelial(5;1.13e-46)|all cancers(3;8.92e-44)|BRCA - Breast invasive adenocarcinoma(5;8.4e-26)|OV - Ovarian serous cystadenocarcinoma(8;1.05e-23)			CTGTAAAGTTCCTTGGCACGC	0.483													11	321					0	0	1	0	0	G	77649841	C	G	77649841	3	3	491	1	0	0	0	0	1	0	0	0	7824	864	30	5	1926	5	INTS4	11	77649841	Missense_Mutation	SNP	C	TCGA-TQ-A7RW-01A-11D-A33T-08		77649841	57356675	49	37602											
HEPHL1	341208	broad.mit.edu	37	11	93797642	93797642	+	Silent	SNP	A	A	G			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr11:93797642A>G	ENST00000315765.9	+	4	782	c.774A>G	c.(772-774)aaA>aaG	p.K258K		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	258	Plastocyanin-like 2.				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				TTGACAAGAAAGATGCTGTTT	0.383													6	81					0	0	1	0	0	G	93797642	A	G	93797642	2	3	491	1	0	0	0	0	0	0	0	1	7096	69	3	3		3	HEPHL1	11	93797642	Silent	SNP	A	TCGA-TQ-A7RW-01A-11D-A33T-08	16147801	93797642	41208874	50	37603											
CUL5	8065	broad.mit.edu	37	11	107944162	107944162	+	Missense_Mutation	SNP	T	T	C			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr11:107944162T>C	ENST00000393094.2	+	10	1667	c.1051T>C	c.(1051-1053)Ttt>Ctt	p.F351L	CUL5_ENST00000531843.1_3'UTR	NM_003478.3	NP_003469.2	Q93034	CUL5_HUMAN	cullin 5	351					cell cycle arrest|cell proliferation|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process|viral reproduction	cullin-RING ubiquitin ligase complex|cytosol	calcium channel activity|receptor activity|ubiquitin protein ligase binding			endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	23		all_cancers(61;7.09e-10)|all_epithelial(67;2.97e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|Melanoma(852;4.48e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;3.58e-05)|Epithelial(105;4.68e-05)|all cancers(92;0.00122)|OV - Ovarian serous cystadenocarcinoma(223;0.217)		ATTTAATAGATTTAGTAAACT	0.269													16	153					0	0	1	0	0	C	107944162	T	C	107944162	3	2	491	1	0	0	0	0	1	0	0	0	4082	1493	52	3	1089	3	CUL5	11	107944162	Missense_Mutation	SNP	T	TCGA-TQ-A7RW-01A-11D-A33T-08	14146520	107944162	27062354	51	37604											
KCNJ8	3764	broad.mit.edu	37	12	21919155	21919155	+	Silent	SNP	A	A	T			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr12:21919155A>T	ENST00000240662.2	-	3	1122	c.777T>A	c.(775-777)atT>atA	p.I259I	RP11-59N23.1_ENST00000542489.1_RNA	NM_004982.3	NP_004973.1	Q15842	IRK8_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 8	259						voltage-gated potassium channel complex				cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28					Levosimendan(DB00922)	CCACCAGAAAAATGTTATTGC	0.493													24	68					0	0	1	0	0	T	21919155	A	T	21919155	2	4	491	1	0	0	0	0	0	0	0	1	8100	10	1	5		5	KCNJ8	12	21919155	Silent	SNP	A	TCGA-TQ-A7RW-01A-11D-A33T-08		21919155	111932740	52	37605											
RDH5	5959	broad.mit.edu	37	12	56118162	56118162	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr12:56118162G>A	ENST00000257895.5	+	5	942	c.790G>A	c.(790-792)Gtg>Atg	p.V264M	RDH5_ENST00000547072.1_Missense_Mutation_p.V167M|RP11-644F5.10_ENST00000550412.1_3'UTR|RDH5_ENST00000548082.1_Missense_Mutation_p.V264M	NM_001199771.1|NM_002905.3	NP_001186700.1|NP_002896.2	Q92781	RDH1_HUMAN	retinol dehydrogenase 5 (11-cis/9-cis)	264					response to stimulus|visual perception	membrane	binding|retinol dehydrogenase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|skin(1)	12					NADH(DB00157)|Vitamin A(DB00162)	CCTAACCAAGGTGAGCCGATG	0.587											OREG0021908	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	124					0	0	1	0	0	A	56118162	G	A	56118162	3	1	491	1	0	0	0	0	1	0	0	0	13247	1261	44	2	804	2	RDH5	12	56118162	Missense_Mutation	SNP	G	TCGA-TQ-A7RW-01A-11D-A33T-08	34199007	56118162	77733733	53	37606											
RAB3IP	117177	broad.mit.edu	37	12	70194027	70194027	+	Silent	SNP	G	G	A			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr12:70194027G>A	ENST00000550536.1	+	7	1432	c.975G>A	c.(973-975)aaG>aaA	p.K325K	RAB3IP_ENST00000553099.1_Silent_p.K103K|RAB3IP_ENST00000551641.1_Silent_p.K103K|RAB3IP_ENST00000325555.9_Silent_p.K103K|RAB3IP_ENST00000483530.2_Silent_p.K309K|RAB3IP_ENST00000550847.1_Silent_p.K16K|RAB3IP_ENST00000362025.5_Silent_p.K325K|RAB3IP_ENST00000247833.7_Silent_p.K309K	NM_001278402.1|NM_175623.2	NP_001265331.1|NP_783322.1	Q96QF0	RAB3I_HUMAN	RAB3A interacting protein	325					cilium assembly|Golgi to plasma membrane transport|protein localization to organelle|protein transport	actin cortical patch|centrosome|cytosol|lamellipodium|microtubule basal body|nucleus	guanyl-nucleotide exchange factor activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22	Esophageal squamous(21;0.187)		Lung(24;0.000381)|OV - Ovarian serous cystadenocarcinoma(12;0.00168)|STAD - Stomach adenocarcinoma(21;0.00694)			GATTGTGGAAGGATGAGCCCA	0.343													36	80					0	0	1	0	0	A	70194027	G	A	70194027	2	1	491	1	0	0	0	0	0	0	0	1	12990	991	35	2		2	RAB3IP	12	70194027	Silent	SNP	G	TCGA-TQ-A7RW-01A-11D-A33T-08	14075865	70194027	63657868	54	37607											
DCN	1634	broad.mit.edu	37	12	91545525	91545525	+	Missense_Mutation	SNP	G	G	C			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr12:91545525G>C	ENST00000052754.5	-	7	1292	c.791C>G	c.(790-792)tCt>tGt	p.S264C	DCN_ENST00000547568.2_Missense_Mutation_p.S117C|DCN_ENST00000425043.1_Missense_Mutation_p.S117C|DCN_ENST00000303320.3_Intron|DCN_ENST00000420120.2_Missense_Mutation_p.S155C|DCN_ENST00000552962.1_Missense_Mutation_p.S264C|DCN_ENST00000393155.1_Missense_Mutation_p.S264C|DCN_ENST00000228329.5_Missense_Mutation_p.S155C|DCN_ENST00000441303.2_Intron|DCN_ENST00000456569.2_Intron	NM_001920.3	NP_001911.1	P07585	PGS2_HUMAN	decorin	264					organ morphogenesis	extracellular space				central_nervous_system(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|skin(1)	20						GTTGGCCAGAGAGCCATTGTC	0.478													31	55					0	0	1	0	0	C	91545525	G	C	91545525	3	2	491	1	0	0	0	0	1	0	0	0	4320	942	33	4	296	4	DCN	12	91545525	Missense_Mutation	SNP	G	TCGA-TQ-A7RW-01A-11D-A33T-08	21351498	91545525	42306370	55	37608											
SSH1	54434	broad.mit.edu	37	12	109186453	109186453	+	Missense_Mutation	SNP	G	G	C			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr12:109186453G>C	ENST00000326495.5	-	14	1595	c.1502C>G	c.(1501-1503)cCc>cGc	p.P501R	SSH1_ENST00000551165.1_Missense_Mutation_p.P501R|SSH1_ENST00000360239.3_Missense_Mutation_p.P189R|SSH1_ENST00000326470.5_Missense_Mutation_p.P512R	NM_018984.3	NP_061857.3	Q8WYL5	SSH1_HUMAN	slingshot protein phosphatase 1	501					actin cytoskeleton organization|cell morphogenesis|cellular response to ATP|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of cellular protein metabolic process|regulation of lamellipodium assembly	cleavage furrow|cytoplasm|cytoskeleton|lamellipodium|midbody|plasma membrane	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CCCTAAGCCGGGCTGGGCGGC	0.642													5	114					0	0	1	0	0	C	109186453	G	C	109186453	3	2	491	1	0	0	0	0	1	0	0	0	15240	1232	43	5	1841	5	SSH1	12	109186453	Missense_Mutation	SNP	G	TCGA-TQ-A7RW-01A-11D-A33T-08	17640928	109186453	24665442	56	37609											
GTF2H3	2967	broad.mit.edu	37	12	124132661	124132661	+	Silent	SNP	C	C	T			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr12:124132661C>T	ENST00000543341.2	+	4	383	c.352C>T	c.(352-354)Cta>Tta	p.L118L	GTF2H3_ENST00000228955.7_Silent_p.L77L	NM_001271867.1|NM_001516.3	NP_001258796.1|NP_001507.2	Q13889	TF2H3_HUMAN	general transcription factor IIH, polypeptide 3, 34kDa	118					mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of viral transcription|protein phosphorylation|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	core TFIIH complex|holo TFIIH complex	damaged DNA binding|metal ion binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|translation factor activity, nucleic acid binding			breast(2)|endometrium(1)|large_intestine(4)|lung(2)|urinary_tract(1)	10	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.1e-05)|Epithelial(86;0.000388)|all cancers(50;0.00362)		GATTAAAGATCTAATGACCAA	0.343								Nucleotide excision repair (NER)					40	73					0	0	1	0	0	T	124132661	C	T	124132661	2	4	491	1	0	0	0	0	0	0	0	1	6905	912	32	2		2	GTF2H3	12	124132661	Silent	SNP	C	TCGA-TQ-A7RW-01A-11D-A33T-08	14946208	124132661	9719234	57	37610											
RBM26	64062	broad.mit.edu	37	13	79940828	79940828	+	Missense_Mutation	SNP	T	T	C			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr13:79940828T>C	ENST00000438737.2	-	7	1515	c.1075A>G	c.(1075-1077)Aat>Gat	p.N359D	RBM26_ENST00000438724.1_Missense_Mutation_p.N359D|RBM26_ENST00000461008.1_5'UTR|RBM26_ENST00000267229.7_Missense_Mutation_p.N359D			Q5T8P6	RBM26_HUMAN	RNA binding motif protein 26	359	Pro-rich.				mRNA processing		nucleotide binding|protein binding|RNA binding|zinc ion binding			NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33		Acute lymphoblastic leukemia(28;0.0279)		GBM - Glioblastoma multiforme(99;0.0188)		GGCCTGAGATTCACAGGTGGG	0.542													4	141					0	0	1	0	0	C	79940828	T	C	79940828	3	2	491	1	0	0	0	0	1	0	0	0	13178	1783	62	3	1927	3	RBM26	13	79940828	Missense_Mutation	SNP	T	TCGA-TQ-A7RW-01A-11D-A33T-08		79940828	35229050	58	37611											
MCF2L	23263	broad.mit.edu	37	13	113742083	113742083	+	Silent	SNP	C	C	T			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr13:113742083C>T	ENST00000397030.1	+	23	2794	c.2757C>T	c.(2755-2757)taC>taT	p.Y919Y	MCF2L_ENST00000535094.2_Silent_p.Y886Y|MCF2L_ENST00000375601.3_Silent_p.Y890Y|MCF2L_ENST00000375608.3_Silent_p.Y916Y|MCF2L_ENST00000375604.2_Silent_p.Y943Y|MCF2L_ENST00000434480.2_Silent_p.Y892Y|MCF2L_ENST00000442652.2_Silent_p.Y916Y|MCF2L_ENST00000421756.1_Silent_p.Y890Y|MCF2L_ENST00000423482.2_Silent_p.Y884Y|MCF2L_ENST00000375597.4_Silent_p.Y884Y			O15068	MCF2L_HUMAN	MCF.2 cell line derived transforming sequence-like	916	PH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	Rho guanyl-nucleotide exchange factor activity			kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)				AGATCTGGTACAACGCGCGCG	0.572													15	52					0	0	1	0	0	T	113742083	C	T	113742083	2	4	491	1	0	0	0	0	0	0	0	1	9429	489	17	2		2	MCF2L	13	113742083	Silent	SNP	C	TCGA-TQ-A7RW-01A-11D-A33T-08	33801255	113742083	1427795	59	37612											
METTL3	56339	broad.mit.edu	37	14	21971545	21971545	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr14:21971545C>T	ENST00000298717.4	-	3	645	c.494G>A	c.(493-495)gGc>gAc	p.G165D	METTL3_ENST00000538267.1_Intron	NM_019852.3	NP_062826.2	Q86U44	MTA70_HUMAN	methyltransferase like 3	165					gene expression	nuclear speck	mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity|RNA binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(95;0.000628)		Epithelial(56;6.61e-06)	GBM - Glioblastoma multiforme(265;0.0146)		CTCCCCAGGGCCCTTCTTTTC	0.542													39	107					0	0	1	0	0	T	21971545	C	T	21971545	3	4	491	1	0	0	0	0	1	0	0	0	9551	739	26	2	1284	2	METTL3	14	21971545	Missense_Mutation	SNP	C	TCGA-TQ-A7RW-01A-11D-A33T-08		21971545	85377995	60	37613											
GNPNAT1	64841	broad.mit.edu	37	14	53248533	53248533	+	Missense_Mutation	SNP	A	A	G			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr14:53248533A>G	ENST00000216410.3	-	4	501	c.314T>C	c.(313-315)aTa>aCa	p.I105T	GNPNAT1_ENST00000554230.1_Missense_Mutation_p.I34T	NM_198066.3	NP_932332.1	Q96EK6	GNA1_HUMAN	glucosamine-phosphate N-acetyltransferase 1	105	N-acetyltransferase.				dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol|endosome membrane|Golgi membrane	glucosamine 6-phosphate N-acetyltransferase activity			liver(1)|lung(1)|prostate(1)|skin(1)	4	Breast(41;0.176)					TTTATGTTCTATAATCAGAGT	0.363													18	249					0	0	1	0	0	G	53248533	A	G	53248533	3	3	491	1	0	0	0	0	1	0	0	0	6586	449	16	3	252	3	GNPNAT1	14	53248533	Missense_Mutation	SNP	A	TCGA-TQ-A7RW-01A-11D-A33T-08	31276988	53248533	54101007	61	37614											
DACT1	51339	broad.mit.edu	37	14	59113311	59113311	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr14:59113311C>T	ENST00000395153.3	+	4	2006	c.1859C>T	c.(1858-1860)gCg>gTg	p.A620V	DACT1_ENST00000556859.1_Missense_Mutation_p.A376V|DACT1_ENST00000335867.4_Missense_Mutation_p.A657V|DACT1_ENST00000541264.2_Missense_Mutation_p.A376V	NM_001079520.1|NM_016651.5	NP_001072988.1|NP_057735.2	Q9NYF0	DACT1_HUMAN	dishevelled-binding antagonist of beta-catenin 1	657					multicellular organismal development|Wnt receptor signaling pathway	cytoplasm|nucleus				endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						GGGAGCAGGGCGCATGGCCAC	0.692													5	18					0	0	1	0	0	T	59113311	C	T	59113311	3	4	491	1	0	0	0	0	1	0	0	0	4246	768	27	1	1984	1	DACT1	14	59113311	Missense_Mutation	SNP	C	TCGA-TQ-A7RW-01A-11D-A33T-08	5864778	59113311	48236229	62	37615											
NEK9	91754	broad.mit.edu	37	14	75553847	75553847	+	Silent	SNP	C	C	T			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr14:75553847C>T	ENST00000238616.5	-	21	2849	c.2691G>A	c.(2689-2691)gtG>gtA	p.V897V		NM_033116.4	NP_149107.4	Q8TD19	NEK9_HUMAN	NIMA-related kinase 9	897					cell division|mitosis	mitochondrion|nucleus	ATP binding|metal ion binding|protein kinase binding|protein serine/threonine kinase activity			endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00718)		TCTCAACCTCCACCTGCAGAG	0.512													72	170					0	0	1	0	0	T	75553847	C	T	75553847	2	4	491	1	0	0	0	0	0	0	0	1	10378	581	21	2		2	NEK9	14	75553847	Silent	SNP	C	TCGA-TQ-A7RW-01A-11D-A33T-08	16440536	75553847	31795693	63	37616											
TP53	7157	broad.mit.edu	37	17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	rs121913343		TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr17:7577121G>A	ENST00000420246.2	-	8	949	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000269305.4_Missense_Mutation_p.R273C|TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	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).		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.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			34	19					0	0	1	0	0	A	7577121	G	A	7577121	3	1	491	1	0	0	0	0	1	0	0	0	16442	1087	38	1	469	1	TP53	17	7577121	Missense_Mutation	SNP	G	TCGA-TQ-A7RW-01A-11D-A33T-08		7577121	73618089	64	37617											
C17orf78	284099	broad.mit.edu	37	17	35733066	35733066	+	Missense_Mutation	SNP	T	T	C			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr17:35733066T>C	ENST00000300618.4	+	1	82	c.32T>C	c.(31-33)aTt>aCt	p.I11T	ACACA_ENST00000416895.1_Intron|C17orf78_ENST00000586700.1_Missense_Mutation_p.I11T|ACACA_ENST00000353139.5_Intron	NM_173625.3	NP_775896.3	Q8N4C9	CQ078_HUMAN	chromosome 17 open reading frame 78	11						integral to membrane				NS(1)|endometrium(1)|large_intestine(1)|lung(2)|stomach(1)	6		Breast(25;0.00295)|Ovarian(249;0.15)				AGCCTAATCATTGCATCCTAT	0.463													31	82					0	0	1	0	0	C	35733066	T	C	35733066	3	2	491	1	0	0	0	0	1	0	0	0	1893	1493	52	3	34	3	C17orf78	17	35733066	Missense_Mutation	SNP	T	TCGA-TQ-A7RW-01A-11D-A33T-08	28155945	35733066	45462144	65	37618											
STXBP4	252983	broad.mit.edu	37	17	53218683	53218683	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr17:53218683G>A	ENST00000376352.2	+	17	1709	c.1502G>A	c.(1501-1503)gGg>gAg	p.G501E	STXBP4_ENST00000434978.2_Missense_Mutation_p.G479E	NM_178509.5	NP_848604.3	Q6ZWJ1	STXB4_HUMAN	syntaxin binding protein 4	501	WW.					cytoplasm	calcium ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(4)|ovary(1)|upper_aerodigestive_tract(2)	19						TTACCTTATGGGTGGGAGGAA	0.363													9	154					0	0	1	0	0	A	53218683	G	A	53218683	3	1	491	1	0	0	0	0	1	0	0	0	15411	1232	43	2	1560	2	STXBP4	17	53218683	Missense_Mutation	SNP	G	TCGA-TQ-A7RW-01A-11D-A33T-08	17485617	53218683	27976527	66	37619											
TUBD1	51174	broad.mit.edu	37	17	57937725	57937725	+	Missense_Mutation	SNP	G	G	T			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr17:57937725G>T	ENST00000325752.3	-	9	1597	c.1320C>A	c.(1318-1320)ttC>ttA	p.F440L	TUBD1_ENST00000340993.6_Missense_Mutation_p.F385L|TUBD1_ENST00000394239.3_Missense_Mutation_p.F383L|TUBD1_ENST00000346141.6_Missense_Mutation_p.F186L|TUBD1_ENST00000539018.1_Missense_Mutation_p.F224L|TUBD1_ENST00000592426.1_Missense_Mutation_p.F440L|TUBD1_ENST00000376094.4_Missense_Mutation_p.F338L	NM_016261.3	NP_057345.2	Q9UJT1	TBD_HUMAN	tubulin, delta 1	440					cell differentiation|microtubule-based movement|multicellular organismal development|protein polymerization|spermatogenesis	centriole|microtubule|nucleus	GTP binding|GTPase activity|structural molecule activity	p.F440F(1)		NS(2)|breast(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(2)	21	all_cancers(5;3.18e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;9.34e-13)|all cancers(12;1.91e-11)			CTAATGACGTGAAACTGTCTA	0.318													13	155					1.37285e-15	1.45691e-15	1	1	0	T	57937725	G	T	57937725	3	4	491	1	0	0	0	0	1	0	0	0	16824	1281	45	5	45	5	TUBD1	17	57937725	Missense_Mutation	SNP	G	TCGA-TQ-A7RW-01A-11D-A33T-08	4719042	57937725	23257485	67	37620											
ABCA6	23460	broad.mit.edu	37	17	67101613	67101613	+	Missense_Mutation	SNP	G	G	C			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr17:67101613G>C	ENST00000284425.2	-	20	2904	c.2730C>G	c.(2728-2730)atC>atG	p.I910M		NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	910					transport	integral to membrane	ATP binding|ATPase activity			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					CTGTGTTATTGATGATCAACA	0.363													5	92					0	0	1	0	0	C	67101613	G	C	67101613	3	2	491	1	0	0	0	0	1	0	0	0	36	1280	45	5	2203	5	ABCA6	17	67101613	Missense_Mutation	SNP	G	TCGA-TQ-A7RW-01A-11D-A33T-08	9163888	67101613	14093597	68	37621											
ASXL3	80816	broad.mit.edu	37	18	31326457	31326457	+	Silent	SNP	C	C	T			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr18:31326457C>T	ENST00000269197.5	+	12	6645	c.6645C>T	c.(6643-6645)tgC>tgT	p.C2215C		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	2215					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						AATGCTCTTGCCGGCTGAAAG	0.512													5	146					0	0	1	0	0	T	31326457	C	T	31326457	2	4	491	1	0	0	0	0	0	0	0	1	1067	747	26	2		2	ASXL3	18	31326457	Silent	SNP	C	TCGA-TQ-A7RW-01A-11D-A33T-08		31326457	46750791	69	37622											
CTDP1	9150	broad.mit.edu	37	18	77464812	77464812	+	Missense_Mutation	SNP	A	A	G			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr18:77464812A>G	ENST00000299543.7	+	5	814	c.667A>G	c.(667-669)Acg>Gcg	p.T223A	CTDP1_ENST00000075430.7_Missense_Mutation_p.T223A	NM_001202504.1|NM_004715.4	NP_001189433.1|NP_004706.3	Q9Y5B0	CTDP1_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1	223	FCP1 homology.				positive regulation of viral transcription|protein dephosphorylation|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	CTD phosphatase activity|DNA-directed RNA polymerase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(2)|urinary_tract(1)	35		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;5.2e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0277)		CATGCTGCACACGCGCCTGCG	0.602													12	160					0	0	1	0	0	G	77464812	A	G	77464812	3	3	491	1	0	0	0	0	1	0	0	0	4026	159	6	3	685	3	CTDP1	18	77464812	Missense_Mutation	SNP	A	TCGA-TQ-A7RW-01A-11D-A33T-08	46138355	77464812	612436	70	37623											
ZNF846	162993	broad.mit.edu	37	19	9874046	9874046	+	Silent	SNP	G	G	A			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr19:9874046G>A	ENST00000397902.2	-	3	467	c.54C>T	c.(52-54)acC>acT	p.T18T	ZNF846_ENST00000588267.1_5'UTR|ZNF846_ENST00000586293.1_Silent_p.T18T|ZNF846_ENST00000592859.1_Intron	NM_001077624.1	NP_001071092.1	Q147U1	ZN846_HUMAN	zinc finger protein 846	18	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22						ACTCCTCCTGGGTAAAGTCCA	0.423													58	206					0	0	1	0	0	A	9874046	G	A	9874046	2	1	491	1	0	0	0	0	0	0	0	1	18236	1219	43	2		2	ZNF846	19	9874046	Silent	SNP	G	TCGA-TQ-A7RW-01A-11D-A33T-08		9874046	49254937	71	37624											
DDA1	79016	broad.mit.edu	37	19	17424890	17424890	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr19:17424890C>T	ENST00000359866.4	+	2	186	c.62C>T	c.(61-63)gCg>gTg	p.A21V		NM_024050.5	NP_076955.1	Q9BW61	DDA1_HUMAN	DET1 and DDB1 associated 1	21										kidney(1)|large_intestine(1)|lung(1)|ovary(1)	4						CGATTTCACGCGGACTCCGTG	0.527													10	269					0	0	1	0	0	T	17424890	C	T	17424890	3	4	491	1	0	0	0	0	1	0	0	0	4343	768	27	1	68	1	DDA1	19	17424890	Missense_Mutation	SNP	C	TCGA-TQ-A7RW-01A-11D-A33T-08	7550844	17424890	41704093	72	37625											
TSHZ3	57616	broad.mit.edu	37	19	31770237	31770237	+	Silent	SNP	A	A	G			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr19:31770237A>G	ENST00000240587.4	-	2	789	c.462T>C	c.(460-462)agT>agC	p.S154S		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	154	Ser-rich.				negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					tgctgctgctactgctgctgc	0.607													3	42					0	0	1	0	0	G	31770237	A	G	31770237	2	3	491	1	0	0	0	0	0	0	0	1	16686	388	14	3		3	TSHZ3	19	31770237	Silent	SNP	A	TCGA-TQ-A7RW-01A-11D-A33T-08	14345347	31770237	27358746	73	37626											
ZFP82	284406	broad.mit.edu	37	19	36884065	36884065	+	Missense_Mutation	SNP	G	G	T			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr19:36884065G>T	ENST00000392161.3	-	5	1419	c.1177C>A	c.(1177-1179)Cct>Act	p.P393T	ZFP82_ENST00000392171.1_Missense_Mutation_p.P393T	NM_133466.2	NP_597723.1	Q8N141	ZFP82_HUMAN	ZFP82 zinc finger protein	393					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						CATTCGTAAGGTTTTTCACCA	0.388													6	169					0.00116845	0.00117979	1	1	0	T	36884065	G	T	36884065	3	4	491	1	0	0	0	0	1	0	0	0	17711	1261	44	5	425	5	ZFP82	19	36884065	Missense_Mutation	SNP	G	TCGA-TQ-A7RW-01A-11D-A33T-08	5113828	36884065	22244918	74	37627											
ZFP64	55734	broad.mit.edu	37	20	50701717	50701717	+	Silent	SNP	C	C	T			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr20:50701717C>T	ENST00000361387.2	-	9	1377	c.1317G>A	c.(1315-1317)gaG>gaA	p.E439E	ZFP64_ENST00000371518.2_Intron|ZFP64_ENST00000371523.4_Silent_p.E220E	NM_199427.2	NP_955459.2	Q9NPA5	ZF64A_HUMAN	ZFP64 zinc finger protein	396					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						TGAAAGGCTTCTCCCCCGAGT	0.532													9	76					0	0	1	0	0	T	50701717	C	T	50701717	2	4	491	1	0	0	0	0	0	0	0	1	17710	912	32	2		2	ZFP64	20	50701717	Silent	SNP	C	TCGA-TQ-A7RW-01A-11D-A33T-08		50701717	12323803	75	37628											
DSCAM	1826	broad.mit.edu	37	21	42064859	42064859	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr21:42064859G>A	ENST00000400454.1	-	3	862	c.385C>T	c.(385-387)Cgt>Tgt	p.R129C		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	129	Ig-like C2-type 1.|Ig-like C2-type 2.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TCCTCCACACGGACTGTATAG	0.498													14	130					0	0	1	0	0	A	42064859	G	A	42064859	3	1	491	1	0	0	0	0	1	0	0	0	4794	1116	39	1	5777	1	DSCAM	21	42064859	Missense_Mutation	SNP	G	TCGA-TQ-A7RW-01A-11D-A33T-08		42064859	6065036	76	37629											
SEC14L3	266629	broad.mit.edu	37	22	30866506	30866506	+	Translation_Start_Site	SNP	G	G	A	rs116155456	byFrequency	TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr22:30866506G>A	ENST00000403066.1	-	0	224				SEC14L3_ENST00000402286.1_De_novo_Start_InFrame|SEC14L3_ENST00000215812.4_Missense_Mutation_p.R40C|SEC14L3_ENST00000539629.1_De_novo_Start_OutOfFrame|SEC14L3_ENST00000415957.2_De_novo_Start_OutOfFrame|SEC14L3_ENST00000401751.1_De_novo_Start_OutOfFrame|SEC14L3_ENST00000540910.1_De_novo_Start_InFrame			Q9UDX4	S14L3_HUMAN	SEC14-like 3 (S. cerevisiae)							integral to membrane|intracellular	lipid binding|transporter activity			NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1)	19					Vitamin E(DB00163)	CGGAGCCAGCGTAGAAGGAAA	0.567													7	96					0	0	1	0	0	A	30866506	G	A	30866506	1	1	491	1	0	0	0	0	0	0	0	0	14037	1145	40	1		1	SEC14L3	22	30866506	Translation_Start_Site	SNP	G	TCGA-TQ-A7RW-01A-11D-A33T-08		30866506	20438060	77	37630											
ABCB7	22	broad.mit.edu	37	X	74282268	74282268	+	Splice_Site	SNP	T	T	C			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chrX:74282268T>C	ENST00000253577.3	-	14	1859		c.e14-2		ABCB7_ENST00000339447.4_Splice_Site|ABCB7_ENST00000373394.3_Splice_Site	NM_001271696.1|NM_004299.3	NP_001258625.1|NP_004290.2	O75027	ABCB7_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 7						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						TTTCTCCTCCTGGTAAAGGAA	0.363													4	59					0	0	1	0	0	C	74282268	T	C	74282268	5	2	491	1	0	0	0	0	0	0	1	0	46	1594	55	3	440	3	ABCB7	23	74282268	Splice_Site	SNP	T	TCGA-TQ-A7RW-01A-11D-A33T-08		74282268	80988292	78	37631											
ATRX	546	broad.mit.edu	37	X	76937867	76937876	+	Frame_Shift_Del	DEL	AGCCATCCTG	AGCCATCCTG	-			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chrX:76937867_76937876delAGCCATCCTG	ENST00000373344.5	-	9	3086_3095	c.2872_2881delCAGGATGGCT	c.(2872-2883)caggatggcttafs	p.QDGL958fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.QDGL920fs	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	958					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)	ATATCAGATAAGCCATCCTGTACTTTTTTA	0.348			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						10	492	---	---	---	---						-	76937876	AGCCATCCTG	-	76937867	7	5	491	1	0	1	0	1	0	0	0	0	1206	69	3	0	4705	0	ATRX	23	76937867	Frame_Shift_Del	DEL	AGCCATCCTG	TCGA-TQ-A7RW-01A-11D-A33T-08	2655599	76937867	78332693	79	37632											
CXorf40A	91966	broad.mit.edu	37	X	148627360	148627360	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chrX:148627360G>A	ENST00000441248.1	+	3	1771	c.184G>A	c.(184-186)Ggg>Agg	p.G62R	CXorf40A_ENST00000423540.2_Missense_Mutation_p.G62R|CXorf40A_ENST00000359293.5_Missense_Mutation_p.G62R|CXorf40A_ENST00000393985.3_Missense_Mutation_p.G62R|CXorf40A_ENST00000450602.2_Missense_Mutation_p.G62R|CXorf40A_ENST00000514208.1_Missense_Mutation_p.G62R|CXorf40A_ENST00000422892.2_Missense_Mutation_p.G62R|CXorf40A_ENST00000434353.2_Missense_Mutation_p.G62R|CXorf40A_ENST00000423421.1_Missense_Mutation_p.G62R|CXorf40A_ENST00000428236.1_5'UTR			Q8TE69	CX04A_HUMAN	chromosome X open reading frame 40A	62							protein binding			breast(1)|endometrium(3)|large_intestine(1)|lung(2)	7	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					GGAGAGACTCGGGATGACTCC	0.567													49	19					0	0	1	0	0	A	148627360	G	A	148627360	3	1	491	1	0	0	0	0	1	0	0	0	4131	1116	39	1	186	1	CXorf40A	23	148627360	Missense_Mutation	SNP	G	TCGA-TQ-A7RW-01A-11D-A33T-08	71689493	148627360	6643200	80	37633											
CXorf40B	541578	broad.mit.edu	37	X	149101909	149101909	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chrX:149101909C>T	ENST00000370406.3	-	4	1012	c.184G>A	c.(184-186)Ggg>Agg	p.G62R	CXorf40B_ENST00000462691.1_Missense_Mutation_p.G62R|CXorf40B_ENST00000355203.2_Missense_Mutation_p.G62R|CXorf40B_ENST00000370404.1_Missense_Mutation_p.G62R			Q96DE9	CX04B_HUMAN	chromosome X open reading frame 40B	62										endometrium(1)|lung(4)	5	Acute lymphoblastic leukemia(192;6.56e-05)					GGAGTCATCCCGAGTCTCTCC	0.562													45	218					0	0	1	0	0	T	149101909	C	T	149101909	3	4	491	1	0	0	0	0	1	0	0	0	4132	652	23	1	300	1	CXorf40B	23	149101909	Missense_Mutation	SNP	C	TCGA-TQ-A7RW-01A-11D-A33T-08	474549	149101909	6168651	81	37634											
EIF2AK3	9451	broad.mit.edu	37	2	88874643	88874643	+	Silent	SNP	T	T	C			TCGA-TQ-A8XE-01A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aaebadf-13d2-4865-8ab5-cc989d80a261	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr2:88874643T>C	ENST00000303236.3	-	13	2659	c.2358A>G	c.(2356-2358)gaA>gaG	p.E786E	AC104134.2_ENST00000413234.1_RNA|EIF2AK3_ENST00000470706.1_Intron|EIF2AK3_ENST00000419748.1_Silent_p.E635E	NM_004836.5	NP_004827.4	Q9NZJ5	E2AK3_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 3	786	Protein kinase.				activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|ER overload response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding			ovary(3)	3						AAGGACAAAGTTCAAAGGAGT	0.453													109	123					0	0	1	0	0	C	88874643	T	C	88874643	2	2	492	1	0	0	0	0	0	0	0	1	5024	1722	60	3		3	EIF2AK3	2	88874643	Silent	SNP	T	TCGA-TQ-A8XE-01A-11D-A36O-08		88874643	154324730	1	37635											
LCT	3938	broad.mit.edu	37	2	136566894	136566894	+	Missense_Mutation	SNP	A	A	G			TCGA-TQ-A8XE-01A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aaebadf-13d2-4865-8ab5-cc989d80a261	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr2:136566894A>G	ENST00000264162.2	-	8	3033	c.3023T>C	c.(3022-3024)gTg>gCg	p.V1008A		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	1008	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		GTTGCTTGCCACCAAGCCATT	0.507													21	35					0	0	1	0	0	G	136566894	A	G	136566894	3	3	492	1	0	0	0	0	1	0	0	0	8732	159	6	3	2800	3	LCT	2	136566894	Missense_Mutation	SNP	A	TCGA-TQ-A8XE-01A-11D-A36O-08	47692251	136566894	106632479	2	37636											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-TQ-A8XE-01A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aaebadf-13d2-4865-8ab5-cc989d80a261	722d3df5-7254-44f0-bbe0-cf39dbd57866	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	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								27	57					0	0	1	0	0	T	209113112	C	T	209113112	3	4	492	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-TQ-A8XE-01A-11D-A36O-08	72546218	209113112	34086261	3	37637											
NEU2	4759	broad.mit.edu	37	2	233898830	233898830	+	Missense_Mutation	SNP	A	A	G			TCGA-TQ-A8XE-01A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aaebadf-13d2-4865-8ab5-cc989d80a261	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr2:233898830A>G	ENST00000233840.3	+	2	206	c.206A>G	c.(205-207)cAa>cGa	p.Q69R		NM_005383.2	NP_005374.2	Q9Y3R4	NEUR2_HUMAN	sialidase 2 (cytosolic sialidase)	69							exo-alpha-sialidase activity			endometrium(3)|large_intestine(2)|lung(10)|skin(2)|urinary_tract(1)	18		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0271)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0839)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0488)		ACTCAGTGGCAAGCTCAGGAG	0.622													41	58					0	0	1	0	0	G	233898830	A	G	233898830	3	3	492	1	0	0	0	0	1	0	0	0	10389	130	5	3	212	3	NEU2	2	233898830	Missense_Mutation	SNP	A	TCGA-TQ-A8XE-01A-11D-A36O-08	24785718	233898830	9300543	4	37638											
CDCP1	64866	broad.mit.edu	37	3	45160021	45160021	+	Missense_Mutation	SNP	C	C	G			TCGA-TQ-A8XE-01A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aaebadf-13d2-4865-8ab5-cc989d80a261	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr3:45160021C>G	ENST00000296129.1	-	2	309	c.175G>C	c.(175-177)Gtc>Ctc	p.V59L	CDCP1_ENST00000490471.1_5'UTR|CDCP1_ENST00000425231.2_Missense_Mutation_p.V59L	NM_022842.3	NP_073753.3	Q9H5V8	CDCP1_HUMAN	CUB domain containing protein 1	59						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)		TTAGAAATGACGATGTAACAG	0.428													26	43					0	0	1	0	0	G	45160021	C	G	45160021	3	3	492	1	0	0	0	0	1	0	0	0	3115	536	19	5	2375	5	CDCP1	3	45160021	Missense_Mutation	SNP	C	TCGA-TQ-A8XE-01A-11D-A36O-08		45160021	152862409	5	37639											
EPHA3	2042	broad.mit.edu	37	3	89390072	89390072	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A8XE-01A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aaebadf-13d2-4865-8ab5-cc989d80a261	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr3:89390072G>A	ENST00000336596.2	+	4	1046	c.821G>A	c.(820-822)cGa>cAa	p.R274Q	EPHA3_ENST00000494014.1_Missense_Mutation_p.R274Q|EPHA3_ENST00000452448.2_Missense_Mutation_p.R274Q	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	274	Cys-rich.					extracellular region|integral to plasma membrane	ATP binding			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		GTAGCTTGTCGACCAGGTTTC	0.353										TSP Lung(6;0.00050)			4	111					0	0	1	0	0	A	89390072	G	A	89390072	3	1	492	1	0	0	0	0	1	0	0	0	5196	1058	37	1	835	1	EPHA3	3	89390072	Missense_Mutation	SNP	G	TCGA-TQ-A8XE-01A-11D-A36O-08	44230051	89390072	108632358	6	37640											
PIK3CA	5290	broad.mit.edu	37	3	178952085	178952085	+	Missense_Mutation	SNP	A	A	G	rs121913279		TCGA-TQ-A8XE-01A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aaebadf-13d2-4865-8ab5-cc989d80a261	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr3:178952085A>G	ENST00000263967.3	+	21	3297	c.3140A>G	c.(3139-3141)cAt>cGt	p.H1047R		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1047	PI3K/PI4K.		H -> L (in cancer).|H -> R (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane).|H -> Y (in cancer).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.H1047R(1387)|p.H1047L(194)|p.H1047P(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			AATGATGCACATCATGGTGGC	0.378	H1047L(EFM19_BREAST)|H1047R(BT20_BREAST)|H1047R(CAL29_URINARY_TRACT)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(HCC1954_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(MCAS_OVARY)|H1047R(MDAMB453_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(RKO_LARGE_INTESTINE)|H1047R(SKOV3_OVARY)|H1047R(T47D_BREAST)	57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			26	32					0	0	1	0	0	G	178952085	A	G	178952085	3	3	492	1	0	0	0	0	1	0	0	0	11961	217	8	3	3218	3	PIK3CA	3	178952085	Missense_Mutation	SNP	A	TCGA-TQ-A8XE-01A-11D-A36O-08	89562013	178952085	19070345	7	37641											
ATP13A4	84239	broad.mit.edu	37	3	193207598	193207598	+	Missense_Mutation	SNP	T	T	G			TCGA-TQ-A8XE-01A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aaebadf-13d2-4865-8ab5-cc989d80a261	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr3:193207598T>G	ENST00000342695.4	-	7	981	c.659A>C	c.(658-660)gAa>gCa	p.E220A	ATP13A4_ENST00000392443.3_Missense_Mutation_p.E220A|ATP13A4_ENST00000295548.3_Missense_Mutation_p.E220A	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	220					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		CTTATAGTCTTCACTAAACCA	0.338													4	131					0	0	1	0	0	G	193207598	T	G	193207598	3	3	492	1	0	0	0	0	1	0	0	0	1125	1783	62	5	3027	5	ATP13A4	3	193207598	Missense_Mutation	SNP	T	TCGA-TQ-A8XE-01A-11D-A36O-08	14255513	193207598	4814832	8	37642											
EPHA5	2044	broad.mit.edu	37	4	66197690	66197690	+	Splice_Site	SNP	C	C	T			TCGA-TQ-A8XE-01A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aaebadf-13d2-4865-8ab5-cc989d80a261	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr4:66197690C>T	ENST00000273854.3	-	17	3609		c.e17+1		EPHA5_ENST00000432638.2_Splice_Site|EPHA5_ENST00000354839.4_Splice_Site|EPHA5_ENST00000511294.1_Silent_p.E1004E	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5						cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						AAATTACTCACTCCAAGGTCA	0.408										TSP Lung(17;0.13)			24	53					0	0	1	0	0	T	66197690	C	T	66197690	5	4	492	1	0	0	0	0	0	0	1	0	5198	579	20	2	112	2	EPHA5	4	66197690	Splice_Site	SNP	C	TCGA-TQ-A8XE-01A-11D-A36O-08		66197690	124956586	9	37643											
SCD5	79966	broad.mit.edu	37	4	83557824	83557824	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A8XE-01A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aaebadf-13d2-4865-8ab5-cc989d80a261	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr4:83557824G>A	ENST00000319540.4	-	4	1041	c.722C>T	c.(721-723)gCc>gTc	p.A241V		NM_001037582.2	NP_001032671.2	Q86SK9	SCD5_HUMAN	stearoyl-CoA desaturase 5	241					fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	iron ion binding|stearoyl-CoA 9-desaturase activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)	13		Colorectal(4;0.0323)|Hepatocellular(203;0.115)				CATGTGGGCGGCGCTGTTGAC	0.562													34	47					0	0	1	0	0	A	83557824	G	A	83557824	3	1	492	1	0	0	0	0	1	0	0	0	13940	1203	42	2	278	2	SCD5	4	83557824	Missense_Mutation	SNP	G	TCGA-TQ-A8XE-01A-11D-A36O-08	17360134	83557824	107596452	10	37644											
EGF	1950	broad.mit.edu	37	4	110932374	110932374	+	Silent	SNP	T	T	C			TCGA-TQ-A8XE-01A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aaebadf-13d2-4865-8ab5-cc989d80a261	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr4:110932374T>C	ENST00000265171.5	+	24	3832	c.3387T>C	c.(3385-3387)acT>acC	p.T1129T	EGF_ENST00000503392.1_Silent_p.T1088T|EGF_ENST00000509793.1_Silent_p.T1087T	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN	epidermal growth factor	1129					angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity			breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sulindac(DB00605)	TGCAACCAACTTCATGGAGGC	0.453													30	23					0	0	1	0	0	C	110932374	T	C	110932374	2	2	492	1	0	0	0	0	0	0	0	1	4988	1596	56	3		3	EGF	4	110932374	Silent	SNP	T	TCGA-TQ-A8XE-01A-11D-A36O-08	27374550	110932374	80221902	11	37645											
PCDHB5	26167	broad.mit.edu	37	5	140515080	140515080	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A8XE-01A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aaebadf-13d2-4865-8ab5-cc989d80a261	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr5:140515080C>T	ENST00000231134.5	+	1	281	c.64C>T	c.(64-66)Ctt>Ttt	p.L22F		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN		22					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TATATTGTTGCTTTTGTGGGA	0.488													20	34					0	0	1	0	0	T	140515080	C	T	140515080	3	4	492	1	0	0	0	0	1	0	0	0	11592	797	28	2	66	2	PCDHB5	5	140515080	Missense_Mutation	SNP	C	TCGA-TQ-A8XE-01A-11D-A36O-08		140515080	40400180	12	37646											
KIAA0319	9856	broad.mit.edu	37	6	24596226	24596226	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A8XE-01A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aaebadf-13d2-4865-8ab5-cc989d80a261	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr6:24596226C>T	ENST00000535378.1	-	4	1291	c.649G>A	c.(649-651)Gcc>Acc	p.A217T	KIAA0319_ENST00000430948.2_Missense_Mutation_p.A181T|KIAA0319_ENST00000537886.1_Missense_Mutation_p.A226T|KIAA0319_ENST00000378214.3_Missense_Mutation_p.A226T|KIAA0319_ENST00000543707.1_Missense_Mutation_p.A226T	NM_001168374.1	NP_001161846.1	Q5VV43	K0319_HUMAN	KIAA0319	226					negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding	p.A226T(1)		breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						AGTTTTGGGGCAGGGGTTGAA	0.562													40	7					0	0	1	0	0	T	24596226	C	T	24596226	3	4	492	1	0	0	0	0	1	0	0	0	8210	710	25	2	2618	2	KIAA0319	6	24596226	Missense_Mutation	SNP	C	TCGA-TQ-A8XE-01A-11D-A36O-08		24596226	146518841	13	37647											
SLC17A4	10050	broad.mit.edu	37	6	25769311	25769311	+	Missense_Mutation	SNP	A	A	G			TCGA-TQ-A8XE-01A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aaebadf-13d2-4865-8ab5-cc989d80a261	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr6:25769311A>G	ENST00000377905.4	+	3	309	c.190A>G	c.(190-192)Atg>Gtg	p.M64V	SLC17A4_ENST00000397076.2_Missense_Mutation_p.M10V|SLC17A4_ENST00000439485.2_Missense_Mutation_p.M64V	NM_005495.2	NP_005486.1	Q9Y2C5	S17A4_HUMAN	solute carrier family 17, member 4	64					phosphate metabolic process	integral to plasma membrane|membrane fraction	sodium:phosphate symporter activity			breast(4)|endometrium(1)|kidney(4)|large_intestine(3)|lung(21)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						CATCCCAGCTATGGTGAACAA	0.478													20	36					0	0	1	0	0	G	25769311	A	G	25769311	3	3	492	1	0	0	0	0	1	0	0	0	14474	449	16	3	196	3	SLC17A4	6	25769311	Missense_Mutation	SNP	A	TCGA-TQ-A8XE-01A-11D-A36O-08	1173085	25769311	145345756	14	37648											
GFRAL	389400	broad.mit.edu	37	6	55223800	55223800	+	Missense_Mutation	SNP	T	T	A			TCGA-TQ-A8XE-01A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aaebadf-13d2-4865-8ab5-cc989d80a261	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr6:55223800T>A	ENST00000340465.2	+	6	902	c.816T>A	c.(814-816)agT>agA	p.S272R		NM_207410.2	NP_997293.2	Q6UXV0	GFRAL_HUMAN	GDNF family receptor alpha like	272						integral to membrane	receptor activity			NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	48	Lung NSC(77;0.0875)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			GTTCAGGAAGTGATGACTGCA	0.433													8	90					0	0	1	0	0	A	55223800	T	A	55223800	3	1	492	1	0	0	0	0	1	0	0	0	6393	1693	59	5	838	5	GFRAL	6	55223800	Missense_Mutation	SNP	T	TCGA-TQ-A8XE-01A-11D-A36O-08	29454489	55223800	115891267	15	37649											
TRRAP	8295	broad.mit.edu	37	7	98507916	98507916	+	Missense_Mutation	SNP	C	C	G			TCGA-TQ-A8XE-01A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aaebadf-13d2-4865-8ab5-cc989d80a261	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr7:98507916C>G	ENST00000359863.4	+	15	1797	c.1588C>G	c.(1588-1590)Caa>Gaa	p.Q530E	TRRAP_ENST00000446306.3_Missense_Mutation_p.Q530E|TRRAP_ENST00000355540.3_Missense_Mutation_p.Q530E	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	530					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			CTTCGAGAAGCAAGGAGAAAA	0.617													32	40					0	0	1	0	0	G	98507916	C	G	98507916	3	3	492	1	0	0	0	0	1	0	0	0	16662	711	25	5	1642	5	TRRAP	7	98507916	Missense_Mutation	SNP	C	TCGA-TQ-A8XE-01A-11D-A36O-08		98507916	60630747	16	37650											
EPHB4	2050	broad.mit.edu	37	7	100403136	100403136	+	Missense_Mutation	SNP	G	G	C			TCGA-TQ-A8XE-01A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aaebadf-13d2-4865-8ab5-cc989d80a261	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr7:100403136G>C	ENST00000358173.3	-	15	3133	c.2665C>G	c.(2665-2667)Cgg>Ggg	p.R889G	EPHB4_ENST00000360620.3_Missense_Mutation_p.R889G	NM_004444.4	NP_004435.3	P54760	EPHB4_HUMAN	EPH receptor B4	889	Protein kinase.		R -> W (in a gastric adenocarcinoma sample; somatic mutation).		cell proliferation|organ morphogenesis|regulation of angiogenesis	cell surface|integral to plasma membrane	ATP binding|ephrin receptor activity	p.R889W(1)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47	Lung NSC(181;0.041)|all_lung(186;0.0581)					CCATTCTCCCGGGCCACGATT	0.637													28	63					0	0	1	0	0	C	100403136	G	C	100403136	3	2	492	1	0	0	0	0	1	0	0	0	5205	1115	39	5	310	5	EPHB4	7	100403136	Missense_Mutation	SNP	G	TCGA-TQ-A8XE-01A-11D-A36O-08	1895220	100403136	58735527	17	37651											
MYO3A	53904	broad.mit.edu	37	10	26315440	26315440	+	Missense_Mutation	SNP	T	T	C			TCGA-TQ-A8XE-01A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aaebadf-13d2-4865-8ab5-cc989d80a261	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr10:26315440T>C	ENST00000265944.5	+	10	1098	c.932T>C	c.(931-933)aTg>aCg	p.M311T	MYO3A_ENST00000543632.1_Missense_Mutation_p.M311T	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	311					protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						CATCAATGCATGGGAGGCACA	0.333													9	66					0	0	1	0	0	C	26315440	T	C	26315440	3	2	492	1	0	0	0	0	1	0	0	0	10124	1464	51	3	962	3	MYO3A	10	26315440	Missense_Mutation	SNP	T	TCGA-TQ-A8XE-01A-11D-A36O-08		26315440	109219307	18	37652											
SYT9	143425	broad.mit.edu	37	11	7439282	7439282	+	Silent	SNP	C	C	T			TCGA-TQ-A8XE-01A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aaebadf-13d2-4865-8ab5-cc989d80a261	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr11:7439282C>T	ENST00000318881.6	+	5	1497	c.1260C>T	c.(1258-1260)aaC>aaT	p.N420N		NM_175733.3	NP_783860.1	Q86SS6	SYT9_HUMAN	synaptotagmin IX	420	C2 2.					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			NS(1)|endometrium(2)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	38				Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)		CTGTTTACAACGAAGCCATAG	0.468													12	51					0	0	1	0	0	T	7439282	C	T	7439282	2	4	492	1	0	0	0	0	0	0	0	1	15538	535	19	1		1	SYT9	11	7439282	Silent	SNP	C	TCGA-TQ-A8XE-01A-11D-A36O-08		7439282	127567234	19	37653											
OR4C6	219432	broad.mit.edu	37	11	55433471	55433471	+	Missense_Mutation	SNP	A	A	G			TCGA-TQ-A8XE-01A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aaebadf-13d2-4865-8ab5-cc989d80a261	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr11:55433471A>G	ENST00000314259.3	+	1	858	c.829A>G	c.(829-831)Aca>Gca	p.T277A		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	277					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						CTCAATCATCACACCCATGTT	0.453													42	54					0	0	1	0	0	G	55433471	A	G	55433471	3	3	492	1	0	0	0	0	1	0	0	0	11100	159	6	3	831	3	OR4C6	11	55433471	Missense_Mutation	SNP	A	TCGA-TQ-A8XE-01A-11D-A36O-08	47994189	55433471	79573045	20	37654											
CDC42BPG	55561	broad.mit.edu	37	11	64597514	64597514	+	Silent	SNP	G	G	A			TCGA-TQ-A8XE-01A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aaebadf-13d2-4865-8ab5-cc989d80a261	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr11:64597514G>A	ENST00000342711.5	-	30	3395	c.3396C>T	c.(3394-3396)cgC>cgT	p.R1132R		NM_017525.2	NP_059995.2	Q6DT37	MRCKG_HUMAN	CDC42 binding protein kinase gamma (DMPK-like)	1132	CNH.				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						GCTGCTGCACGCGCCGGCACT	0.662													14	22					0	0	1	0	0	A	64597514	G	A	64597514	2	1	492	1	0	0	0	0	0	0	0	1	3096	1074	38	1		1	CDC42BPG	11	64597514	Silent	SNP	G	TCGA-TQ-A8XE-01A-11D-A36O-08	9164043	64597514	70409002	21	37655											
DSCAML1	57453	broad.mit.edu	37	11	117335712	117335712	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A8XE-01A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aaebadf-13d2-4865-8ab5-cc989d80a261	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr11:117335712G>A	ENST00000321322.6	-	17	3392	c.3391C>T	c.(3391-3393)Cgg>Tgg	p.R1131W	DSCAML1_ENST00000527706.1_Missense_Mutation_p.R861W	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1071	Fibronectin type-III 3.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		GTGCCAGCCCGATTGAAGGCT	0.617													14	61					0	0	1	0	0	A	117335712	G	A	117335712	3	1	492	1	0	0	0	0	1	0	0	0	4795	1057	37	1	3018	1	DSCAML1	11	117335712	Missense_Mutation	SNP	G	TCGA-TQ-A8XE-01A-11D-A36O-08	52738198	117335712	17670804	22	37656											
KRT73	319101	broad.mit.edu	37	12	53005016	53005016	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A8XE-01A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aaebadf-13d2-4865-8ab5-cc989d80a261	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr12:53005016C>T	ENST00000305748.3	-	6	1116	c.1082G>A	c.(1081-1083)cGc>cAc	p.R361H	RP11-641A6.2_ENST00000552364.1_RNA|RP11-641A6.2_ENST00000551089.1_RNA	NM_175068.2	NP_778238.1	Q86Y46	K2C73_HUMAN	keratin 73	361	Coil 2.|Rod.					keratin filament	structural molecule activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.189)		AATCTCCGAGCGCAGTCTTTG	0.567													21	70					0	0	1	0	0	T	53005016	C	T	53005016	3	4	492	1	0	0	0	0	1	0	0	0	8529	768	27	1	556	1	KRT73	12	53005016	Missense_Mutation	SNP	C	TCGA-TQ-A8XE-01A-11D-A36O-08		53005016	80846879	23	37657											
TMTC3	160418	broad.mit.edu	37	12	88566414	88566414	+	Missense_Mutation	SNP	A	A	G			TCGA-TQ-A8XE-01A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aaebadf-13d2-4865-8ab5-cc989d80a261	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr12:88566414A>G	ENST00000266712.6	+	8	1311	c.1091A>G	c.(1090-1092)aAc>aGc	p.N364S		NM_181783.3	NP_861448.2	Q6ZXV5	TMTC3_HUMAN	transmembrane and tetratricopeptide repeat containing 3	364						integral to membrane	binding			NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|liver(1)|lung(12)|prostate(4)|skin(1)	31						CCTGCATCGAACCTTTTTTTT	0.308													41	72					0	0	1	0	0	G	88566414	A	G	88566414	3	3	492	1	0	0	0	0	1	0	0	0	16322	43	2	3	1117	3	TMTC3	12	88566414	Missense_Mutation	SNP	A	TCGA-TQ-A8XE-01A-11D-A36O-08	35561398	88566414	45285481	24	37658											
MSI1	4440	broad.mit.edu	37	12	120791134	120791134	+	Missense_Mutation	SNP	C	C	A			TCGA-TQ-A8XE-01A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aaebadf-13d2-4865-8ab5-cc989d80a261	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr12:120791134C>A	ENST00000257552.2	-	10	789	c.701G>T	c.(700-702)gGc>gTc	p.G234V	MSI1_ENST00000546622.1_5'UTR	NM_002442.3	NP_002433.1	O43347	MSI1H_HUMAN	musashi RNA-binding protein 1	234					nervous system development	cytoplasm|nucleus	nucleotide binding			breast(4)|central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(5)|skin(2)	19	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					AGGGGCGAGGCCTGTATAACT	0.612													43	54					6.61955e-31	7.44699e-31	1	1	0	A	120791134	C	A	120791134	3	1	492	1	0	0	0	0	1	0	0	0	9924	739	26	5	407	5	MSI1	12	120791134	Missense_Mutation	SNP	C	TCGA-TQ-A8XE-01A-11D-A36O-08	32224720	120791134	13060761	25	37659											
ABCB9	23457	broad.mit.edu	37	12	123424704	123424704	+	Missense_Mutation	SNP	T	T	C			TCGA-TQ-A8XE-01A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aaebadf-13d2-4865-8ab5-cc989d80a261	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr12:123424704T>C	ENST00000542678.1	-	9	4535	c.1697A>G	c.(1696-1698)gAc>gGc	p.D566G	ABCB9_ENST00000392439.3_Missense_Mutation_p.D566G|ABCB9_ENST00000344275.7_Missense_Mutation_p.D566G|ABCB9_ENST00000540285.1_Missense_Mutation_p.D503G|ABCB9_ENST00000346530.5_Missense_Mutation_p.D523G|ABCB9_ENST00000541983.1_5'UTR|ABCB9_ENST00000280560.8_Missense_Mutation_p.D566G|ABCB9_ENST00000442028.2_Missense_Mutation_p.D566G|ABCB9_ENST00000442833.2_Missense_Mutation_p.D566G			Q9NP78	ABCB9_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 9	566	ABC transporter.				positive regulation of T cell mediated cytotoxicity|protein transport	lysosomal membrane|plasma membrane|TAP complex	ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|protein homodimerization activity|TAP1 binding|TAP2 binding|tapasin binding			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(1)	18	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.84e-05)|Epithelial(86;0.000152)|BRCA - Breast invasive adenocarcinoma(302;0.111)		GGGCTTGCCGTCCAGCAGCAC	0.632													6	6					0	0	1	0	0	C	123424704	T	C	123424704	3	2	492	1	0	0	0	0	1	0	0	0	48	1667	58	3	619	3	ABCB9	12	123424704	Missense_Mutation	SNP	T	TCGA-TQ-A8XE-01A-11D-A36O-08	2633570	123424704	10427191	26	37660											
RTN1	6252	broad.mit.edu	37	14	60069953	60069957	+	Frame_Shift_Del	DEL	GTAGA	GTAGA	-	rs147040027		TCGA-TQ-A8XE-01A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aaebadf-13d2-4865-8ab5-cc989d80a261	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr14:60069953_60069957delGTAGA	ENST00000267484.5	-	7	2537_2541	c.2202_2206delTCTAC	c.(2200-2208)actctacctfs	p.LP735fs	RTN1_ENST00000342503.4_Frame_Shift_Del_p.LP167fs|RTN1_ENST00000395090.1_Frame_Shift_Del_p.LP152fs|RTN1_ENST00000557422.1_5'UTR	NM_021136.2	NP_066959.1	Q16799	RTN1_HUMAN	reticulon 1	735	Reticulon.				neuron differentiation	integral to endoplasmic reticulum membrane	signal transducer activity	p.P736S(1)		central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		TACACTACAGGTAGAGTAAACATTG	0.298													13	53	---	---	---	---						-	60069957	GTAGA	-	60069953	7	5	492	1	0	1	0	1	0	0	0	0	13777	1261	44	0	136	0	RTN1	14	60069953	Frame_Shift_Del	DEL	GTAGA	TCGA-TQ-A8XE-01A-11D-A36O-08		60069953	47279587	27	37661											
HERC2	8924	broad.mit.edu	37	15	28437207	28437207	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A8XE-01A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aaebadf-13d2-4865-8ab5-cc989d80a261	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr15:28437207C>T	ENST00000261609.7	-	53	8459	c.8351G>A	c.(8350-8352)cGc>cAc	p.R2784H		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	2784	DOC.				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CTTCACCATGCGGGACCAGCT	0.587											OREG0022997	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	191					0	0	1	0	0	T	28437207	C	T	28437207	3	4	492	1	0	0	0	0	1	0	0	0	7099	768	27	1	6317	1	HERC2	15	28437207	Missense_Mutation	SNP	C	TCGA-TQ-A8XE-01A-11D-A36O-08		28437207	74094185	28	37662											
GPR97	222487	broad.mit.edu	37	16	57722359	57722359	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A8XE-01A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aaebadf-13d2-4865-8ab5-cc989d80a261	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr16:57722359G>A	ENST00000333493.4	+	12	1797	c.1636G>A	c.(1636-1638)Gca>Aca	p.A546T	GPR97_ENST00000327655.6_Intron|RP11-405F3.4_ENST00000563062.1_RNA|GPR97_ENST00000450388.3_Missense_Mutation_p.A426T	NM_170776.4	NP_740746.4	Q86Y34	GPR97_HUMAN	G protein-coupled receptor 97	546					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						GGCCCACTCCGCATCTcaaga	0.552													33	38					0	0	1	0	0	A	57722359	G	A	57722359	3	1	492	1	0	0	0	0	1	0	0	0	6761	1087	38	1	1682	1	GPR97	16	57722359	Missense_Mutation	SNP	G	TCGA-TQ-A8XE-01A-11D-A36O-08		57722359	32632394	29	37663											
TP53	7157	broad.mit.edu	37	17	7578263	7578263	+	Nonsense_Mutation	SNP	G	G	A			TCGA-TQ-A8XE-01A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aaebadf-13d2-4865-8ab5-cc989d80a261	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr17:7578263G>A	ENST00000420246.2	-	6	718	c.586C>T	c.(586-588)Cga>Tga	p.R196*	TP53_ENST00000455263.2_Nonsense_Mutation_p.R196*|TP53_ENST00000413465.2_Nonsense_Mutation_p.R196*|TP53_ENST00000574684.1_Intron|TP53_ENST00000269305.4_Nonsense_Mutation_p.R196*|TP53_ENST00000359597.4_Nonsense_Mutation_p.R196*|TP53_ENST00000445888.2_Nonsense_Mutation_p.R196*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	196	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (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.R196*(167)|p.R64*(14)|p.R103*(14)|p.0?(8)|p.R196fs*51(7)|p.?(5)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.R196R(2)|p.I195fs*50(1)|p.R64fs*>27(1)|p.R103fs*51(1)|p.P191fs*6(1)|p.I195_G199delIRVEG(1)|p.P98_E105>Q(1)|p.I195fs*12(1)|p.P59_E66>Q(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)		CCTTCCACTCGGATAAGATGC	0.552		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)			33	12					0	0	1	0	0	A	7578263	G	A	7578263	4	1	492	1	0	0	0	0	0	1	0	0	16442	1124	39	1	708	1	TP53	17	7578263	Nonsense_Mutation	SNP	G	TCGA-TQ-A8XE-01A-11D-A36O-08		7578263	73616947	30	37664											
SLC5A10	125206	broad.mit.edu	37	17	18872700	18872700	+	Missense_Mutation	SNP	T	T	C			TCGA-TQ-A8XE-01A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aaebadf-13d2-4865-8ab5-cc989d80a261	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr17:18872700T>C	ENST00000395647.2	+	7	646	c.605T>C	c.(604-606)aTc>aCc	p.I202T	SLC5A10_ENST00000395642.1_Intron|SLC5A10_ENST00000417251.2_Missense_Mutation_p.I202T|SLC5A10_ENST00000395645.3_Missense_Mutation_p.I202T|SLC5A10_ENST00000317977.6_Intron|FAM83G_ENST00000388995.6_3'UTR|SLC5A10_ENST00000395643.2_Intron	NM_152351.4	NP_689564.3	A0PJK1	SC5AA_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 10	202					sodium ion transport|transmembrane transport	integral to membrane	transporter activity			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(3)|ovary(3)|prostate(3)|skin(3)	24						CAGACGCTCATCATGGTGGTG	0.637													31	44					0	0	1	0	0	C	18872700	T	C	18872700	3	2	492	1	0	0	0	0	1	0	0	0	14717	1435	50	3	631	3	SLC5A10	17	18872700	Missense_Mutation	SNP	T	TCGA-TQ-A8XE-01A-11D-A36O-08	11294437	18872700	62322510	31	37665											
RTTN	25914	broad.mit.edu	37	18	67721477	67721477	+	Missense_Mutation	SNP	A	A	G			TCGA-TQ-A8XE-01A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aaebadf-13d2-4865-8ab5-cc989d80a261	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr18:67721477A>G	ENST00000255674.6	-	38	5361	c.5075T>C	c.(5074-5076)cTg>cCg	p.L1692P	RTTN_ENST00000454359.1_3'UTR	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	1692							binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				ACATGACTGCAGAAGCCTGGA	0.418													15	24					0	0	1	0	0	G	67721477	A	G	67721477	3	3	492	1	0	0	0	0	1	0	0	0	13789	188	7	3	1653	3	RTTN	18	67721477	Missense_Mutation	SNP	A	TCGA-TQ-A8XE-01A-11D-A36O-08		67721477	10355771	32	37666											
CD209	30835	broad.mit.edu	37	19	7809880	7809880	+	Missense_Mutation	SNP	C	C	T	rs139712001	byFrequency	TCGA-TQ-A8XE-01A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aaebadf-13d2-4865-8ab5-cc989d80a261	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr19:7809880C>T	ENST00000315599.7	-	5	869	c.847G>A	c.(847-849)Gcc>Acc	p.A283T	CD209_ENST00000602261.1_Missense_Mutation_p.A191T|CD209_ENST00000601256.1_Missense_Mutation_p.A259T|CD209_ENST00000301357.8_Missense_Mutation_p.A147T|CD209_ENST00000394161.5_Intron|CD209_ENST00000354397.6_Missense_Mutation_p.A283T|CD209_ENST00000593660.1_Missense_Mutation_p.A213T|CD209_ENST00000601951.1_Missense_Mutation_p.A259T|CD209_ENST00000315591.8_Missense_Mutation_p.A259T|CD209_ENST00000204801.8_Missense_Mutation_p.A239T|CD209_ENST00000593821.1_Missense_Mutation_p.A147T|CD209_ENST00000394173.4_Missense_Mutation_p.A122T	NM_001144895.1|NM_001144897.1|NM_021155.3	NP_001138367.1|NP_001138369.1|NP_066978.1	Q9NNX6	CD209_HUMAN	CD209 molecule	283	C-type lectin.				cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to membrane|plasma membrane	mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding	p.A283T(1)		endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						TCTTTGCAGGCGGTGATGGAG	0.582													5	59					0	0	1	0	0	T	7809880	C	T	7809880	3	4	492	1	0	0	0	0	1	0	0	0	3006	768	27	1	379	1	CD209	19	7809880	Missense_Mutation	SNP	C	TCGA-TQ-A8XE-01A-11D-A36O-08		7809880	51319103	33	37667											
CYP2A7	1549	broad.mit.edu	37	19	41382446	41382446	+	Missense_Mutation	SNP	A	A	G			TCGA-TQ-A8XE-01A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aaebadf-13d2-4865-8ab5-cc989d80a261	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr19:41382446A>G	ENST00000301146.4	-	8	1830	c.1289T>C	c.(1288-1290)gTg>gCg	p.V430A	CYP2A7_ENST00000291764.3_Missense_Mutation_p.V379A|CTC-490E21.12_ENST00000601627.1_Intron	NM_000764.2	NP_000755.2	P20853	CP2A7_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 7	430						endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			GGAAAAGGGCACAAAAGCATC	0.567													9	73					0	0	1	0	0	G	41382446	A	G	41382446	3	3	492	1	0	0	0	0	1	0	0	0	4186	159	6	3	203	3	CYP2A7	19	41382446	Missense_Mutation	SNP	A	TCGA-TQ-A8XE-01A-11D-A36O-08	33572566	41382446	17746537	34	37668											
SIGLEC14	100049587	broad.mit.edu	37	19	52147181	52147181	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A8XE-01A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aaebadf-13d2-4865-8ab5-cc989d80a261	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr19:52147181C>T	ENST00000360844.6	-	5	904	c.863G>A	c.(862-864)cGg>cAg	p.R288Q	SIGLEC5_ENST00000534261.2_Intron|SIGLEC5_ENST00000222107.4_Intron|SIGLEC5_ENST00000599649.1_Intron|SIGLEC5_ENST00000429354.3_Intron	NM_001098612.1	NP_001092082.1	Q08ET2	SIG14_HUMAN	sialic acid binding Ig-like lectin 14	288	Ig-like C2-type 2.				cell adhesion	integral to membrane|plasma membrane	protein binding|sugar binding	p.R281L(1)|p.R288L(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	29		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000965)|OV - Ovarian serous cystadenocarcinoma(262;0.0195)		TTTTCCCTCCCGGAACCAGCT	0.597													28	4					0	0	1	0	0	T	52147181	C	T	52147181	3	4	492	1	0	0	0	0	1	0	0	0	14364	652	23	1	339	1	SIGLEC14	19	52147181	Missense_Mutation	SNP	C	TCGA-TQ-A8XE-01A-11D-A36O-08	10764735	52147181	6981802	35	37669											
TPX2	22974	broad.mit.edu	37	20	30371533	30371533	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A8XE-01A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aaebadf-13d2-4865-8ab5-cc989d80a261	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr20:30371533G>A	ENST00000340513.4	+	13	1858	c.1330G>A	c.(1330-1332)Gat>Aat	p.D444N	TPX2_ENST00000300403.6_Missense_Mutation_p.D408N			Q9ULW0	TPX2_HUMAN	TPX2, microtubule-associated	408					activation of protein kinase activity|apoptosis|cell division|cell proliferation|mitosis|regulation of mitotic spindle organization	cytoplasm|microtubule|nucleus|spindle pole	ATP binding|GTP binding|protein kinase binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28			Epithelial(4;0.000771)|Colorectal(19;0.00306)|all cancers(5;0.004)|COAD - Colon adenocarcinoma(19;0.0347)|OV - Ovarian serous cystadenocarcinoma(3;0.0656)			ACGTGAACTTGATCCCAGAAT	0.363													10	114					0	0	1	0	0	A	30371533	G	A	30371533	3	1	492	1	0	0	0	0	1	0	0	0	16493	1290	45	2	1260	2	TPX2	20	30371533	Missense_Mutation	SNP	G	TCGA-TQ-A8XE-01A-11D-A36O-08		30371533	32653987	36	37670											
FOXS1	2307	broad.mit.edu	37	20	30432396	30432396	+	Missense_Mutation	SNP	G	G	T			TCGA-TQ-A8XE-01A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aaebadf-13d2-4865-8ab5-cc989d80a261	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr20:30432396G>T	ENST00000375978.3	-	1	1024	c.950C>A	c.(949-951)aCc>aAc	p.T317N		NM_004118.3	NP_004109.1	O43638	FOXS1_HUMAN	forkhead box S1	317					anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|insulin receptor signaling pathway|lymphangiogenesis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|neural crest cell fate commitment|neuromuscular process controlling balance|Notch signaling pathway|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of multicellular organism growth|positive regulation of transcription from RNA polymerase II promoter|regulation of blood vessel size|regulation of organ growth|somitogenesis|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	transcription factor complex	chromatin DNA binding|DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			kidney(1)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	9						TAGGCAGGGGGTCAGCCCCAA	0.647													13	32					1.5842e-08	1.72077e-08	1	1	0	T	30432396	G	T	30432396	3	4	492	1	0	0	0	0	1	0	0	0	6069	1261	44	5	46	5	FOXS1	20	30432396	Missense_Mutation	SNP	G	TCGA-TQ-A8XE-01A-11D-A36O-08	60863	30432396	32593124	37	37671											
CSF2RB	1439	broad.mit.edu	37	22	37333970	37333970	+	Missense_Mutation	SNP	T	T	C			TCGA-TQ-A8XE-01A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aaebadf-13d2-4865-8ab5-cc989d80a261	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr22:37333970T>C	ENST00000262825.5	+	14	2355	c.2138T>C	c.(2137-2139)gTg>gCg	p.V713A	CSF2RB_ENST00000403662.3_Missense_Mutation_p.V707A|CSF2RB_ENST00000406230.1_Missense_Mutation_p.V713A|CSF2RB_ENST00000536485.1_Missense_Mutation_p.V654A	NM_000395.2	NP_000386.1	P32927	IL3RB_HUMAN	colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)	707					respiratory gaseous exchange	granulocyte macrophage colony-stimulating factor receptor complex	cytokine receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42					Sargramostim(DB00020)	GACCCTGGAGTGGCCTCTGGT	0.612													11	40					0	0	1	0	0	C	37333970	T	C	37333970	3	2	492	1	0	0	0	0	1	0	0	0	3960	1696	59	3	2170	3	CSF2RB	22	37333970	Missense_Mutation	SNP	T	TCGA-TQ-A8XE-01A-11D-A36O-08		37333970	13970596	38	37672											
MXRA5	25878	broad.mit.edu	37	X	3241758	3241758	+	Silent	SNP	C	C	T			TCGA-TQ-A8XE-01A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aaebadf-13d2-4865-8ab5-cc989d80a261	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chrX:3241758C>T	ENST00000217939.6	-	5	2122	c.1968G>A	c.(1966-1968)caG>caA	p.Q656Q		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	656	Ig-like C2-type 2.					extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CTGCCCCTTGCTGGTTGACAG	0.493													45	149					0	0	1	0	0	T	3241758	C	T	3241758	2	4	492	1	0	0	0	0	0	0	0	1	10051	796	28	2		2	MXRA5	23	3241758	Silent	SNP	C	TCGA-TQ-A8XE-01A-11D-A36O-08		3241758	152028802	39	37673											
TIMP1	7076	broad.mit.edu	37	X	47442890	47442890	+	Translation_Start_Site	SNP	T	T	A			TCGA-TQ-A8XE-01A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aaebadf-13d2-4865-8ab5-cc989d80a261	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chrX:47442890T>A	ENST00000377018.2	+	0	222				SYN1_ENST00000295987.7_Intron|TIMP1_ENST00000218388.4_Missense_Mutation_p.C26S|TIMP1_ENST00000377017.1_Intron|SYN1_ENST00000340666.4_Intron|TIMP1_ENST00000456754.2_Missense_Mutation_p.C26S			P01033	TIMP1_HUMAN	TIMP metallopeptidase inhibitor 1						erythrocyte maturation|negative regulation of membrane protein ectodomain proteolysis|platelet activation|platelet degranulation|positive regulation of cell proliferation	platelet alpha granule lumen	metal ion binding|metalloendopeptidase inhibitor activity|protein binding			endometrium(1)|large_intestine(2)	3						GGCCTGCACCTGTGTCCCACC	0.622													28	32					0	0	1	0	0	A	47442890	T	A	47442890	1	1	492	1	0	0	0	0	0	0	0	0	15977	1580	55	5		5	TIMP1	23	47442890	Translation_Start_Site	SNP	T	TCGA-TQ-A8XE-01A-11D-A36O-08	44201132	47442890	107827670	40	37674											
TRMT2B	79979	broad.mit.edu	37	X	100275475	100275475	+	Splice_Site	SNP	C	C	A			TCGA-TQ-A8XE-01A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aaebadf-13d2-4865-8ab5-cc989d80a261	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chrX:100275475C>A	ENST00000338687.7	-	10	1839		c.e10+1		TRMT2B_ENST00000545398.1_Splice_Site|TRMT2B_ENST00000372931.5_Splice_Site|TRMT2B_ENST00000372936.3_Splice_Site|TRMT2B_ENST00000372935.1_Splice_Site|TRMT2B_ENST00000372939.1_Splice_Site			Q96GJ1	TRM2_HUMAN	tRNA methyltransferase 2 homolog B (S. cerevisiae)								tRNA (uracil-5-)-methyltransferase activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	24						AAGCTGTGTACCATTGAAGGC	0.488													58	90					4.17463e-26	4.61406e-26	1	1	0	A	100275475	C	A	100275475	5	1	492	1	0	0	0	0	0	0	1	0	16627	521	18	5	361	5	TRMT2B	23	100275475	Splice_Site	SNP	C	TCGA-TQ-A8XE-01A-11D-A36O-08	52832585	100275475	54995085	41	37675											
MAGEC1	9947	broad.mit.edu	37	X	140994960	140994960	+	Silent	SNP	G	G	A			TCGA-TQ-A8XE-01A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aaebadf-13d2-4865-8ab5-cc989d80a261	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chrX:140994960G>A	ENST00000285879.4	+	4	2056	c.1770G>A	c.(1768-1770)ctG>ctA	p.L590L	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	590							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					AGGACTCCCTGTCTCCTCACT	0.567										HNSCC(15;0.026)			6	568					0	0	1	0	0	A	140994960	G	A	140994960	2	1	492	1	0	0	0	0	0	0	0	1	9230	1364	48	2		2	MAGEC1	23	140994960	Silent	SNP	G	TCGA-TQ-A8XE-01A-11D-A36O-08	40719485	140994960	14275600	42	37676											
HMGB3	3149	broad.mit.edu	37	X	150156360	150156360	+	Silent	SNP	G	G	A			TCGA-TQ-A8XE-01A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aaebadf-13d2-4865-8ab5-cc989d80a261	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chrX:150156360G>A	ENST00000325307.7	+	5	672	c.576G>A	c.(574-576)gaG>gaA	p.E192E	HMGB3_ENST00000448905.2_Silent_p.E192E	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN	high mobility group box 3	192	Asp/Glu-rich (acidic).				DNA recombination|multicellular organismal development	chromosome|nucleus	DNA bending activity|double-stranded DNA binding	p.E192E(1)		endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8	Acute lymphoblastic leukemia(192;6.56e-05)					aggaagaagaggaggaggagg	0.443													6	147					0	0	1	0	0	A	150156360	G	A	150156360	2	1	492	1	0	0	0	0	0	0	0	1	7268	991	35	2		2	HMGB3	23	150156360	Silent	SNP	G	TCGA-TQ-A8XE-01A-11D-A36O-08	9161400	150156360	5114200	43	37677											
OPN1MW2	728458	broad.mit.edu	37	X	153496073	153496073	+	Silent	SNP	G	G	A			TCGA-TQ-A8XE-01A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aaebadf-13d2-4865-8ab5-cc989d80a261	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chrX:153496073G>A	ENST00000369929.4	+	5	861	c.801G>A	c.(799-801)acG>acA	p.T267T	OPN1MW2_ENST00000488220.1_3'UTR	NM_001048181.2	NP_001041646.1			opsin 1 (cone pigments), medium-wave-sensitive 2											haematopoietic_and_lymphoid_tissue(1)|lung(1)|prostate(1)|stomach(2)|urinary_tract(1)	6	all_cancers(53;1.83e-16)|all_epithelial(53;2.73e-10)|all_lung(58;6.39e-07)|Lung NSC(58;8.37e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					AGGAAGTGACGCGCATGGTGG	0.582													12	502					0	0	1	0	0	A	153496073	G	A	153496073	2	1	492	1	0	0	0	0	0	0	0	1	10927	1074	38	1		1	OPN1MW2	23	153496073	Silent	SNP	G	TCGA-TQ-A8XE-01A-11D-A36O-08	3339713	153496073	1774487	44	37678											
TMLHE	55217	broad.mit.edu	37	X	154736769	154736769	+	Missense_Mutation	SNP	T	T	C			TCGA-TQ-A8XE-01A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aaebadf-13d2-4865-8ab5-cc989d80a261	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chrX:154736769T>C	ENST00000334398.3	-	6	930	c.785A>G	c.(784-786)cAt>cGt	p.H262R	TMLHE-AS1_ENST00000452506.1_RNA|TMLHE_ENST00000369439.4_Missense_Mutation_p.H262R	NM_018196.3	NP_060666.1	Q9NVH6	TMLH_HUMAN	trimethyllysine hydroxylase, epsilon	262					carnitine biosynthetic process	mitochondrial matrix	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|trimethyllysine dioxygenase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	20	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Succinic acid(DB00139)|Vitamin C(DB00126)	AGTTCCTTCATGTTTAAGACA	0.363													76	184					0	0	1	0	0	C	154736769	T	C	154736769	3	2	492	1	0	0	0	0	1	0	0	0	16292	1464	51	3	632	3	TMLHE	23	154736769	Missense_Mutation	SNP	T	TCGA-TQ-A8XE-01A-11D-A36O-08	1240696	154736769	533791	45	37679											
SESN2	83667	broad.mit.edu	37	1	28599885	28599885	+	Missense_Mutation	SNP	G	G	A			TCGA-VM-A8C8-01A-11D-A36O-08	TCGA-VM-A8C8-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3ccc86-7b36-460b-a757-841b9f765c74	1574abba-d04f-4c98-b8be-8a8c3182ab01	g.chr1:28599885G>A	ENST00000253063.3	+	6	1088	c.767G>A	c.(766-768)cGc>cAc	p.R256H		NM_031459.4	NP_113647.1	P58004	SESN2_HUMAN	sestrin 2	256					cell cycle arrest	cytoplasm|nucleus				cervix(1)|endometrium(3)|large_intestine(5)|lung(7)|ovary(2)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	27		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;4.76e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;2.98e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|READ - Rectum adenocarcinoma(331;0.0649)		GAGTCTGCCCGCGACGTGGAG	0.652													4	14					0	0	1	0	0	A	28599885	G	A	28599885	3	1	493	1	0	0	0	0	1	0	0	0	14179	1087	38	1	789	1	SESN2	1	28599885	Missense_Mutation	SNP	G	TCGA-VM-A8C8-01A-11D-A36O-08		28599885	220650736	1	37680											
GJB4	127534	broad.mit.edu	37	1	35227307	35227307	+	Missense_Mutation	SNP	G	G	A			TCGA-VM-A8C8-01A-11D-A36O-08	TCGA-VM-A8C8-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3ccc86-7b36-460b-a757-841b9f765c74	1574abba-d04f-4c98-b8be-8a8c3182ab01	g.chr1:35227307G>A	ENST00000339480.1	+	2	822	c.452G>A	c.(451-453)cGc>cAc	p.R151H	RP1-34M23.5_ENST00000542839.1_RNA	NM_153212.2	NP_694944.1	Q9NTQ9	CXB4_HUMAN	gap junction protein, beta 4, 30.3kDa	151					cell communication	connexon complex|integral to membrane	gap junction channel activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				ATCTTCCACCGCCTCTACAAG	0.597													24	34					0	0	1	0	0	A	35227307	G	A	35227307	3	1	493	1	0	0	0	0	1	0	0	0	6452	1087	38	1	454	1	GJB4	1	35227307	Missense_Mutation	SNP	G	TCGA-VM-A8C8-01A-11D-A36O-08	6627422	35227307	214023314	2	37681											
CLCA4	22802	broad.mit.edu	37	1	87031502	87031502	+	Silent	SNP	C	C	T			TCGA-VM-A8C8-01A-11D-A36O-08	TCGA-VM-A8C8-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3ccc86-7b36-460b-a757-841b9f765c74	1574abba-d04f-4c98-b8be-8a8c3182ab01	g.chr1:87031502C>T	ENST00000370563.3	+	6	795	c.753C>T	c.(751-753)aaC>aaT	p.N251N	CLCA4_ENST00000263723.5_5'UTR	NM_012128.3	NP_036260.2	Q14CN2	CLCA4_HUMAN	chloride channel accessory 4	251						apical plasma membrane|extracellular region|integral to plasma membrane	chloride channel activity	p.N251N(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44		Lung NSC(277;0.238)		all cancers(265;0.0202)|Epithelial(280;0.0404)		AATTTTGTAACGAAAAAACCC	0.269													8	47					0	0	1	0	0	T	87031502	C	T	87031502	2	4	493	1	0	0	0	0	0	0	0	1	3482	535	19	1		1	CLCA4	1	87031502	Silent	SNP	C	TCGA-VM-A8C8-01A-11D-A36O-08	51804195	87031502	162219119	3	37682											
CRTC2	200186	broad.mit.edu	37	1	153924030	153924030	+	Silent	SNP	G	G	C			TCGA-VM-A8C8-01A-11D-A36O-08	TCGA-VM-A8C8-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3ccc86-7b36-460b-a757-841b9f765c74	1574abba-d04f-4c98-b8be-8a8c3182ab01	g.chr1:153924030G>C	ENST00000368633.1	-	11	1237	c.1110C>G	c.(1108-1110)ccC>ccG	p.P370P	CRTC2_ENST00000368630.3_Silent_p.P50P	NM_181715.2	NP_859066.1	Q53ET0	CRTC2_HUMAN	CREB regulated transcription coactivator 2	370	Ser-rich.				interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding			NS(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	27	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CAGGCAGAGAGGGGTGGCTGT	0.652													12	45					0	0	1	0	0	C	153924030	G	C	153924030	2	2	493	1	0	0	0	0	0	0	0	1	3923	987	35	4		4	CRTC2	1	153924030	Silent	SNP	G	TCGA-VM-A8C8-01A-11D-A36O-08	66892528	153924030	95326591	4	37683											
HSD17B7	51478	broad.mit.edu	37	1	162769603	162769603	+	Missense_Mutation	SNP	G	G	A			TCGA-VM-A8C8-01A-11D-A36O-08	TCGA-VM-A8C8-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3ccc86-7b36-460b-a757-841b9f765c74	1574abba-d04f-4c98-b8be-8a8c3182ab01	g.chr1:162769603G>A	ENST00000367917.3	+	5	586	c.518G>A	c.(517-519)aGt>aAt	p.S173N	HSD17B7_ENST00000485405.1_3'UTR|HSD17B7_ENST00000254521.3_Missense_Mutation_p.S173N			P56937	DHB7_HUMAN	hydroxysteroid (17-beta) dehydrogenase 7	173					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	3-keto sterol reductase activity|estradiol 17-beta-dehydrogenase activity	p.S173N(4)		endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	9	all_hematologic(112;0.115)				NADH(DB00157)	TCATCTCGCAGTGCAAGGAAA	0.458													3	42					0	0	1	0	0	A	162769603	G	A	162769603	3	1	493	1	0	0	0	0	1	0	0	0	7429	1029	36	2	536	2	HSD17B7	1	162769603	Missense_Mutation	SNP	G	TCGA-VM-A8C8-01A-11D-A36O-08	8845573	162769603	86481018	5	37684											
SRD5A2	6716	broad.mit.edu	37	2	31754484	31754484	+	RNA	SNP	C	C	G	rs121434253		TCGA-VM-A8C8-01A-11D-A36O-08	TCGA-VM-A8C8-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3ccc86-7b36-460b-a757-841b9f765c74	1574abba-d04f-4c98-b8be-8a8c3182ab01	g.chr2:31754484C>G	ENST00000405650.1	-	0	756				AL133247.2_ENST00000435713.1_RNA			P31213	S5A2_HUMAN	steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2)						androgen biosynthetic process|cell differentiation|cell-cell signaling|male gonad development	endoplasmic reticulum membrane|integral to membrane|microsome	3-oxo-5-alpha-steroid 4-dehydrogenase activity|sterol 5-alpha reductase activity					Acute lymphoblastic leukemia(172;0.155)				Azelaic Acid(DB00548)|Dutasteride(DB01126)	ATTCAATGATCTCACCGAGGA	0.463													5	29					0	0	1	0	0	G	31754484	C	G	31754484	1	3	493	0	1	0	0	0	0	0	0	0	15195	912	32	4		4	SRD5A2	2	31754484	RNA	SNP	C	TCGA-VM-A8C8-01A-11D-A36O-08		31754484	211444889	6	37685											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-VM-A8C8-01A-11D-A36O-08	TCGA-VM-A8C8-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3ccc86-7b36-460b-a757-841b9f765c74	1574abba-d04f-4c98-b8be-8a8c3182ab01	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								38	48					0	0	1	0	0	T	209113112	C	T	209113112	3	4	493	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-VM-A8C8-01A-11D-A36O-08	177358628	209113112	34086261	7	37686											
COL6A3	1293	broad.mit.edu	37	2	238280790	238280790	+	Silent	SNP	G	G	A			TCGA-VM-A8C8-01A-11D-A36O-08	TCGA-VM-A8C8-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3ccc86-7b36-460b-a757-841b9f765c74	1574abba-d04f-4c98-b8be-8a8c3182ab01	g.chr2:238280790G>A	ENST00000295550.4	-	9	4322	c.3870C>T	c.(3868-3870)tcC>tcT	p.S1290S	COL6A3_ENST00000347401.3_Silent_p.S1089S|COL6A3_ENST00000472056.1_Silent_p.S683S|COL6A3_ENST00000346358.4_Silent_p.S1090S|COL6A3_ENST00000392003.2_Silent_p.S883S|COL6A3_ENST00000392004.3_Silent_p.S1084S|COL6A3_ENST00000409809.1_Silent_p.S1084S|COL6A3_ENST00000353578.4_Silent_p.S1084S	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1290	Nonhelical region.|VWFA 7.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CATCCTTGCTGGAATGGGCGT	0.607													12	30					0	0	1	0	0	A	238280790	G	A	238280790	2	1	493	1	0	0	0	0	0	0	0	1	3724	1335	47	2		2	COL6A3	2	238280790	Silent	SNP	G	TCGA-VM-A8C8-01A-11D-A36O-08	29167678	238280790	4918583	8	37687											
SLC6A1	6529	broad.mit.edu	37	3	11068038	11068038	+	Silent	SNP	G	G	A			TCGA-VM-A8C8-01A-11D-A36O-08	TCGA-VM-A8C8-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3ccc86-7b36-460b-a757-841b9f765c74	1574abba-d04f-4c98-b8be-8a8c3182ab01	g.chr3:11068038G>A	ENST00000287766.4	+	10	1492	c.1071G>A	c.(1069-1071)gcG>gcA	p.A357A	SLC6A1_ENST00000536032.1_Silent_p.A179A	NM_003042.3	NP_003033.3	P30531	SC6A1_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 1	357					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	26		Ovarian(110;0.0392)		OV - Ovarian serous cystadenocarcinoma(96;0.00099)	Cocaine(DB00907)|Tiagabine(DB00906)	CTGATGTGGCGGCCTCAGGTC	0.577													23	23					0	0	1	0	0	A	11068038	G	A	11068038	2	1	493	1	0	0	0	0	0	0	0	1	14728	1103	39	1		1	SLC6A1	3	11068038	Silent	SNP	G	TCGA-VM-A8C8-01A-11D-A36O-08		11068038	186954392	9	37688											
PARP3	10039	broad.mit.edu	37	3	51978147	51978147	+	Missense_Mutation	SNP	G	G	A			TCGA-VM-A8C8-01A-11D-A36O-08	TCGA-VM-A8C8-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3ccc86-7b36-460b-a757-841b9f765c74	1574abba-d04f-4c98-b8be-8a8c3182ab01	g.chr3:51978147G>A	ENST00000417220.2	+	4	714	c.226G>A	c.(226-228)Gag>Aag	p.E76K	PARP3_ENST00000431474.1_Missense_Mutation_p.E76K|PARP3_ENST00000398755.3_Missense_Mutation_p.E83K			Q9Y6F1	PARP3_HUMAN	poly (ADP-ribose) polymerase family, member 3	76					DNA repair|protein ADP-ribosylation	centriole|nucleus	NAD+ ADP-ribosyltransferase activity|protein binding			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		GACCAACATCGAGAACAACAA	0.602													36	119					0	0	1	0	0	A	51978147	G	A	51978147	3	1	493	1	0	0	0	0	1	0	0	0	11509	1059	37	1	257	1	PARP3	3	51978147	Missense_Mutation	SNP	G	TCGA-VM-A8C8-01A-11D-A36O-08	40910109	51978147	146044283	10	37689											
NAALADL2	254827	broad.mit.edu	37	3	175042013	175042013	+	Missense_Mutation	SNP	A	A	G			TCGA-VM-A8C8-01A-11D-A36O-08	TCGA-VM-A8C8-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3ccc86-7b36-460b-a757-841b9f765c74	1574abba-d04f-4c98-b8be-8a8c3182ab01	g.chr3:175042013A>G	ENST00000454872.1	+	5	1117	c.989A>G	c.(988-990)gAt>gGt	p.D330G	NAALADL2_ENST00000473253.1_3'UTR	NM_207015.2	NP_996898.2	Q58DX5	NADL2_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 2	330					proteolysis	integral to membrane	peptidase activity			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)		CTGTATATCGATCCTTGTGAT	0.418													78	69					0	0	1	0	0	G	175042013	A	G	175042013	3	3	493	1	0	0	0	0	1	0	0	0	10178	333	12	3	1007	3	NAALADL2	3	175042013	Missense_Mutation	SNP	A	TCGA-VM-A8C8-01A-11D-A36O-08	123063866	175042013	22980417	11	37690											
EGF	1950	broad.mit.edu	37	4	110895896	110895896	+	Missense_Mutation	SNP	C	C	T			TCGA-VM-A8C8-01A-11D-A36O-08	TCGA-VM-A8C8-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3ccc86-7b36-460b-a757-841b9f765c74	1574abba-d04f-4c98-b8be-8a8c3182ab01	g.chr4:110895896C>T	ENST00000265171.5	+	12	2207	c.1762C>T	c.(1762-1764)Cgt>Tgt	p.R588C	EGF_ENST00000509793.1_Missense_Mutation_p.R546C|EGF_ENST00000503392.1_Missense_Mutation_p.R588C	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN	epidermal growth factor	588					angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity	p.R588C(1)		breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sulindac(DB00605)	AAATGGGAAACGTTCCAAAAT	0.358													4	60					0	0	1	0	0	T	110895896	C	T	110895896	3	4	493	1	0	0	0	0	1	0	0	0	4988	536	19	1	1808	1	EGF	4	110895896	Missense_Mutation	SNP	C	TCGA-VM-A8C8-01A-11D-A36O-08		110895896	80258380	12	37691											
STOX2	56977	broad.mit.edu	37	4	184930889	184930889	+	Missense_Mutation	SNP	G	G	A			TCGA-VM-A8C8-01A-11D-A36O-08	TCGA-VM-A8C8-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3ccc86-7b36-460b-a757-841b9f765c74	1574abba-d04f-4c98-b8be-8a8c3182ab01	g.chr4:184930889G>A	ENST00000308497.4	+	3	2333	c.898G>A	c.(898-900)Gag>Aag	p.E300K	STOX2_ENST00000438269.1_Missense_Mutation_p.E300K	NM_020225.1	NP_064610.1	Q9P2F5	STOX2_HUMAN	storkhead box 2	300					embryo development|maternal placenta development					breast(1)|endometrium(7)|lung(6)	14		all_lung(41;1.89e-12)|Lung NSC(41;3.48e-12)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|all_hematologic(60;0.027)|Prostate(90;0.0283)		all cancers(43;2.85e-26)|Epithelial(43;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-10)|Colorectal(24;8.23e-06)|GBM - Glioblastoma multiforme(59;1.64e-05)|STAD - Stomach adenocarcinoma(60;3.6e-05)|COAD - Colon adenocarcinoma(29;4.37e-05)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.227)		CCTGCGAGACGAGGACACGCC	0.512													4	25					0	0	1	0	0	A	184930889	G	A	184930889	3	1	493	1	0	0	0	0	1	0	0	0	15376	1059	37	1	908	1	STOX2	4	184930889	Missense_Mutation	SNP	G	TCGA-VM-A8C8-01A-11D-A36O-08	74034993	184930889	6223387	13	37692											
DMXL1	1657	broad.mit.edu	37	5	118503398	118503398	+	Missense_Mutation	SNP	G	G	T			TCGA-VM-A8C8-01A-11D-A36O-08	TCGA-VM-A8C8-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3ccc86-7b36-460b-a757-841b9f765c74	1574abba-d04f-4c98-b8be-8a8c3182ab01	g.chr5:118503398G>T	ENST00000311085.8	+	23	5317	c.5237G>T	c.(5236-5238)cGt>cTt	p.R1746L	DMXL1_ENST00000539542.1_Missense_Mutation_p.R1746L	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	1746										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		TCTATTTTACGTAAAAAAGTT	0.348													22	33					3.8784e-16	3.9996e-16	1	1	0	T	118503398	G	T	118503398	3	4	493	1	0	0	0	0	1	0	0	0	4622	1145	40	5	5327	5	DMXL1	5	118503398	Missense_Mutation	SNP	G	TCGA-VM-A8C8-01A-11D-A36O-08		118503398	62411862	14	37693											
PCDHGA11	56105	broad.mit.edu	37	5	140802769	140802769	+	Missense_Mutation	SNP	G	G	A			TCGA-VM-A8C8-01A-11D-A36O-08	TCGA-VM-A8C8-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3ccc86-7b36-460b-a757-841b9f765c74	1574abba-d04f-4c98-b8be-8a8c3182ab01	g.chr5:140802769G>A	ENST00000398587.2	+	1	2008	c.1975G>A	c.(1975-1977)Gtc>Atc	p.V659I	PCDHGA8_ENST00000398604.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB6_ENST00000520790.1_Intron	NM_018914.2|NM_032092.1	NP_061737.1|NP_114481.1												p.V659I(1)		breast(3)|endometrium(8)|kidney(3)|large_intestine(9)|lung(22)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCGGCCACCGTCACGCTCAC	0.672													4	107					0	0	1	0	0	A	140802769	G	A	140802769	3	1	493	1	0	0	0	0	1	0	0	0	11599	1145	40	1	1977	1	PCDHGA11	5	140802769	Missense_Mutation	SNP	G	TCGA-VM-A8C8-01A-11D-A36O-08	22299371	140802769	40112491	15	37694											
SLC34A1	6569	broad.mit.edu	37	5	176824066	176824066	+	Silent	SNP	C	C	T	rs146962295		TCGA-VM-A8C8-01A-11D-A36O-08	TCGA-VM-A8C8-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3ccc86-7b36-460b-a757-841b9f765c74	1574abba-d04f-4c98-b8be-8a8c3182ab01	g.chr5:176824066C>T	ENST00000324417.5	+	12	1498	c.1407C>T	c.(1405-1407)agC>agT	p.S469S	SLC34A1_ENST00000513614.1_3'UTR	NM_003052.4	NP_003043.3	Q06495	NPT2A_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 1	469					phosphate ion homeostasis|response to cadmium ion|response to lead ion|response to mercury ion|sodium ion transport	brush border membrane|integral to plasma membrane	protein binding|sodium-dependent phosphate transmembrane transporter activity|symporter activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGCTGTCCAGCGCTTTCCAGG	0.627													4	17					0	0	1	0	0	T	176824066	C	T	176824066	2	4	493	1	0	0	0	0	0	0	0	1	14622	767	27	1		1	SLC34A1	5	176824066	Silent	SNP	C	TCGA-VM-A8C8-01A-11D-A36O-08	36021297	176824066	4091194	16	37695											
PACSIN1	29993	broad.mit.edu	37	6	34495256	34495256	+	Frame_Shift_Del	DEL	A	A	-			TCGA-VM-A8C8-01A-11D-A36O-08	TCGA-VM-A8C8-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3ccc86-7b36-460b-a757-841b9f765c74	1574abba-d04f-4c98-b8be-8a8c3182ab01	g.chr6:34495256delA	ENST00000538621.1	+	3	456	c.211delA	c.(211-213)atcfs	p.I71fs	PACSIN1_ENST00000244458.2_Frame_Shift_Del_p.I71fs|PACSIN1_ENST00000486120.1_3'UTR|PACSIN1_ENST00000374043.2_Frame_Shift_Del_p.I29fs	NM_001199583.2	NP_001186512.1	Q9BY11	PACN1_HUMAN	protein kinase C and casein kinase substrate in neurons 1	71	FCH.				endocytosis		protein kinase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)	13						GCGCCAGCTCATCGAGAAAGG	0.652											OREG0017366	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2	4	---	---	---	---						-	34495256	A	-	34495256	7	5	493	1	0	1	0	1	0	0	0	0	11421	217	8	0	217	0	PACSIN1	6	34495256	Frame_Shift_Del	DEL	A	TCGA-VM-A8C8-01A-11D-A36O-08		34495256	136619811	17	37696											
PLG	5340	broad.mit.edu	37	6	161143583	161143583	+	Missense_Mutation	SNP	G	G	A			TCGA-VM-A8C8-01A-11D-A36O-08	TCGA-VM-A8C8-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3ccc86-7b36-460b-a757-841b9f765c74	1574abba-d04f-4c98-b8be-8a8c3182ab01	g.chr6:161143583G>A	ENST00000308192.9	+	10	1303	c.1240G>A	c.(1240-1242)Gaa>Aaa	p.E414K		NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	414	Kringle 4.				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	GAAGACCCCAGAAAACTACCC	0.473													5	137					0	0	1	0	0	A	161143583	G	A	161143583	3	1	493	1	0	0	0	0	1	0	0	0	12134	943	33	2	1282	2	PLG	6	161143583	Missense_Mutation	SNP	G	TCGA-VM-A8C8-01A-11D-A36O-08	126648327	161143583	9971484	18	37697											
CLEC5A	23601	broad.mit.edu	37	7	141635639	141635639	+	Missense_Mutation	SNP	G	G	A			TCGA-VM-A8C8-01A-11D-A36O-08	TCGA-VM-A8C8-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3ccc86-7b36-460b-a757-841b9f765c74	1574abba-d04f-4c98-b8be-8a8c3182ab01	g.chr7:141635639G>A	ENST00000546910.1	-	5	516	c.320C>T	c.(319-321)gCa>gTa	p.A107V	CLEC5A_ENST00000439991.1_Intron|CLEC5A_ENST00000551012.2_Missense_Mutation_p.A84V|CLEC5A_ENST00000438351.1_Missense_Mutation_p.A84V|CLEC5A_ENST00000470595.1_Intron	NM_013252.2	NP_037384.1	Q9NY25	CLC5A_HUMAN	C-type lectin domain family 5, member A	107	C-type lectin.				anti-apoptosis|cellular defense response|innate immune response|interspecies interaction between organisms|osteoblast development	cell surface|integral to plasma membrane	sugar binding|viral receptor activity			endometrium(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	10	Melanoma(164;0.0171)					GTTGACAATTGCCAATGTGGA	0.443													13	67					0	0	1	0	0	A	141635639	G	A	141635639	3	1	493	1	0	0	0	0	1	0	0	0	3542	1319	46	2	258	2	CLEC5A	7	141635639	Missense_Mutation	SNP	G	TCGA-VM-A8C8-01A-11D-A36O-08		141635639	17503024	19	37698											
PREX2	80243	broad.mit.edu	37	8	68956773	68956773	+	Silent	SNP	T	T	C			TCGA-VM-A8C8-01A-11D-A36O-08	TCGA-VM-A8C8-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3ccc86-7b36-460b-a757-841b9f765c74	1574abba-d04f-4c98-b8be-8a8c3182ab01	g.chr8:68956773T>C	ENST00000288368.4	+	8	1168	c.891T>C	c.(889-891)cgT>cgC	p.R297R	PREX2_ENST00000529398.1_3'UTR	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	297	PH.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						ACCTTTTTCGTGGCCGGATCA	0.393													14	104					0	0	1	0	0	C	68956773	T	C	68956773	2	2	493	1	0	0	0	0	0	0	0	1	12529	1683	59	3		3	PREX2	8	68956773	Silent	SNP	T	TCGA-VM-A8C8-01A-11D-A36O-08		68956773	77407249	20	37699											
RHPN1	114822	broad.mit.edu	37	8	144462859	144462859	+	Silent	SNP	G	G	C			TCGA-VM-A8C8-01A-11D-A36O-08	TCGA-VM-A8C8-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3ccc86-7b36-460b-a757-841b9f765c74	1574abba-d04f-4c98-b8be-8a8c3182ab01	g.chr8:144462859G>C	ENST00000289013.6	+	11	1418	c.1317G>C	c.(1315-1317)gtG>gtC	p.V439V		NM_052924.2	NP_443156.2	Q8TCX5	RHPN1_HUMAN	rhophilin, Rho GTPase binding protein 1	464	BRO1.				signal transduction	intracellular				endometrium(1)|large_intestine(1)|lung(7)	9	all_cancers(97;7.39e-11)|all_epithelial(106;5.44e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.156)			TTCGGGCTGTGATCTCCCAGA	0.677													3	6					0	0	1	0	0	C	144462859	G	C	144462859	2	2	493	1	0	0	0	0	0	0	0	1	13400	1277	45	5		5	RHPN1	8	144462859	Silent	SNP	G	TCGA-VM-A8C8-01A-11D-A36O-08	75506086	144462859	1901163	21	37700											
TLN1	7094	broad.mit.edu	37	9	35706484	35706484	+	Missense_Mutation	SNP	T	T	C			TCGA-VM-A8C8-01A-11D-A36O-08	TCGA-VM-A8C8-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3ccc86-7b36-460b-a757-841b9f765c74	1574abba-d04f-4c98-b8be-8a8c3182ab01	g.chr9:35706484T>C	ENST00000314888.9	-	39	5506	c.5153A>G	c.(5152-5154)aAt>aGt	p.N1718S	TLN1_ENST00000464379.1_Intron|TLN1_ENST00000540444.1_Missense_Mutation_p.N1702S	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	1718	Interaction with SYNM.			N -> H (in Ref. 1; AAD13152 and 2; AAF23322).	axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CCGGGCAGCATTGGCCAGCGG	0.592													7	26					0	0	1	0	0	C	35706484	T	C	35706484	3	2	493	1	0	0	0	0	1	0	0	0	16007	1493	52	3	2548	3	TLN1	9	35706484	Missense_Mutation	SNP	T	TCGA-VM-A8C8-01A-11D-A36O-08		35706484	105506947	22	37701											
WNK2	65268	broad.mit.edu	37	9	96055256	96055256	+	Missense_Mutation	SNP	G	G	A			TCGA-VM-A8C8-01A-11D-A36O-08	TCGA-VM-A8C8-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3ccc86-7b36-460b-a757-841b9f765c74	1574abba-d04f-4c98-b8be-8a8c3182ab01	g.chr9:96055256G>A	ENST00000297954.4	+	23	5620	c.5620G>A	c.(5620-5622)Gtg>Atg	p.V1874M	WNK2_ENST00000356055.3_Missense_Mutation_p.V201M|WNK2_ENST00000395475.2_3'UTR|WNK2_ENST00000349097.3_Missense_Mutation_p.V1486M|WNK2_ENST00000427277.2_Missense_Mutation_p.V1449M|WNK2_ENST00000395477.2_Missense_Mutation_p.V1837M	NM_001282394.1	NP_001269323.1	Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	1874					intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						TGGCGACTTCGTGAAGAAGGC	0.706													3	22					0	0	1	0	0	A	96055256	G	A	96055256	3	1	493	1	0	0	0	0	1	0	0	0	17438	1145	40	1	5595	1	WNK2	9	96055256	Missense_Mutation	SNP	G	TCGA-VM-A8C8-01A-11D-A36O-08	60348772	96055256	45158175	23	37702											
PTPDC1	138639	broad.mit.edu	37	9	96859724	96859724	+	Silent	SNP	G	G	A			TCGA-VM-A8C8-01A-11D-A36O-08	TCGA-VM-A8C8-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3ccc86-7b36-460b-a757-841b9f765c74	1574abba-d04f-4c98-b8be-8a8c3182ab01	g.chr9:96859724G>A	ENST00000375360.3	+	7	1054	c.714G>A	c.(712-714)agG>agA	p.R238R	PTPDC1_ENST00000288976.3_Silent_p.R290R	NM_001253830.1|NM_177995.2	NP_001240759.1|NP_818931.1	A2A3K4	PTPC1_HUMAN	protein tyrosine phosphatase domain containing 1	238							protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	32						TCTGTGTAAGGGAATTTACTC	0.443													30	105					0	0	1	0	0	A	96859724	G	A	96859724	2	1	493	1	0	0	0	0	0	0	0	1	12823	1223	43	2		2	PTPDC1	9	96859724	Silent	SNP	G	TCGA-VM-A8C8-01A-11D-A36O-08	804468	96859724	44353707	24	37703											
UCK1	83549	broad.mit.edu	37	9	134404363	134404363	+	Frame_Shift_Del	DEL	C	C	-			TCGA-VM-A8C8-01A-11D-A36O-08	TCGA-VM-A8C8-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3ccc86-7b36-460b-a757-841b9f765c74	1574abba-d04f-4c98-b8be-8a8c3182ab01	g.chr9:134404363delC	ENST00000372215.4	-	5	664	c.571delG	c.(571-573)gtgfs	p.V191fs	UCK1_ENST00000459858.1_5'UTR|UCK1_ENST00000372210.3_Frame_Shift_Del_p.V182fs|UCK1_ENST00000372208.3_Intron|UCK1_ENST00000372211.3_Frame_Shift_Del_p.V196fs	NM_001261450.1|NM_001261451.1|NM_031432.2	NP_001248379.1|NP_001248380.1|NP_113620.1	Q9HA47	UCK1_HUMAN	uridine-cytidine kinase 1	191					pyrimidine base metabolic process|pyrimidine nucleoside salvage	cytosol	ATP binding|phosphotransferase activity, alcohol group as acceptor|uridine kinase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|skin(1)|upper_aerodigestive_tract(1)	6				OV - Ovarian serous cystadenocarcinoma(145;2.34e-05)|Epithelial(140;0.000219)		GCCGGCTTCACGAAGGTGGTG	0.617													12	30	---	---	---	---						-	134404363	C	-	134404363	7	5	493	1	0	1	0	1	0	0	0	0	16983	536	19	0	274	0	UCK1	9	134404363	Frame_Shift_Del	DEL	C	TCGA-VM-A8C8-01A-11D-A36O-08	37544639	134404363	6809068	25	37704											
MUC5B	727897	broad.mit.edu	37	11	1267980	1267980	+	Silent	SNP	C	C	A			TCGA-VM-A8C8-01A-11D-A36O-08	TCGA-VM-A8C8-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3ccc86-7b36-460b-a757-841b9f765c74	1574abba-d04f-4c98-b8be-8a8c3182ab01	g.chr11:1267980C>A	ENST00000447027.1	+	31	9937	c.9879C>A	c.(9877-9879)acC>acA	p.T3293T	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000529681.1_Silent_p.T3290T			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3290	17 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398).	cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CCAGGGCCACCGGCTCTGTGG	0.637													4	83					0.150653	0.150653	1	1	0	A	1267980	C	A	1267980	2	1	493	1	0	0	0	0	0	0	0	1	10027	639	23	5		5	MUC5B	11	1267980	Silent	SNP	C	TCGA-VM-A8C8-01A-11D-A36O-08		1267980	133738536	26	37705											
USP47	55031	broad.mit.edu	37	11	11959846	11959846	+	Missense_Mutation	SNP	C	C	T			TCGA-VM-A8C8-01A-11D-A36O-08	TCGA-VM-A8C8-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3ccc86-7b36-460b-a757-841b9f765c74	1574abba-d04f-4c98-b8be-8a8c3182ab01	g.chr11:11959846C>T	ENST00000339865.5	+	17	2679	c.1916C>T	c.(1915-1917)tCt>tTt	p.S639F	USP47_ENST00000399455.2_Missense_Mutation_p.S727F|USP47_ENST00000527733.1_Missense_Mutation_p.S707F|USP47_ENST00000539466.1_5'UTR	NM_017944.3	NP_060414.3	Q96K76	UBP47_HUMAN	ubiquitin specific peptidase 47	727					base-excision repair|cellular response to UV|monoubiquitinated protein deubiquitination|negative regulation of apoptosis|negative regulation of caspase activity|negative regulation of G2/M transition of mitotic cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of cell growth|response to drug|ubiquitin-dependent protein catabolic process	cytoplasm|SCF ubiquitin ligase complex	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|WD40-repeat domain binding			breast(4)|endometrium(7)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46				Epithelial(150;0.000339)		AAGGCAGAATCTGTAGCTGCT	0.333													19	36					0	0	1	0	0	T	11959846	C	T	11959846	3	4	493	1	0	0	0	0	1	0	0	0	17138	913	32	2	1982	2	USP47	11	11959846	Missense_Mutation	SNP	C	TCGA-VM-A8C8-01A-11D-A36O-08	10691866	11959846	123046670	27	37706											
EHF	26298	broad.mit.edu	37	11	34680178	34680178	+	Missense_Mutation	SNP	G	G	A			TCGA-VM-A8C8-01A-11D-A36O-08	TCGA-VM-A8C8-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3ccc86-7b36-460b-a757-841b9f765c74	1574abba-d04f-4c98-b8be-8a8c3182ab01	g.chr11:34680178G>A	ENST00000257831.3	+	8	827	c.706G>A	c.(706-708)Gtc>Atc	p.V236I	EHF_ENST00000531794.1_Missense_Mutation_p.V258I|EHF_ENST00000533754.1_Missense_Mutation_p.V236I|EHF_ENST00000530286.1_Missense_Mutation_p.V236I|EHF_ENST00000450654.2_Missense_Mutation_p.V213I	NM_012153.5	NP_036285.2	Q9NZC4	EHF_HUMAN	ets homologous factor	236					cell proliferation|epithelial cell differentiation|multicellular organismal development|positive regulation of transcription, DNA-dependent		protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		NFIA/EHF(2)	autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|lung(8)|upper_aerodigestive_tract(1)	17		all_hematologic(20;0.117)	Epithelial(1;0.055)|all cancers(1;0.137)|STAD - Stomach adenocarcinoma(6;0.235)			ATCTGAGGGCGTCTTCAGGTT	0.488													17	80					0	0	1	0	0	A	34680178	G	A	34680178	3	1	493	1	0	0	0	0	1	0	0	0	5007	1145	40	1	732	1	EHF	11	34680178	Missense_Mutation	SNP	G	TCGA-VM-A8C8-01A-11D-A36O-08	22720332	34680178	100326338	28	37707											
DAK	26007	broad.mit.edu	37	11	61110297	61110297	+	Silent	SNP	C	C	T			TCGA-VM-A8C8-01A-11D-A36O-08	TCGA-VM-A8C8-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3ccc86-7b36-460b-a757-841b9f765c74	1574abba-d04f-4c98-b8be-8a8c3182ab01	g.chr11:61110297C>T	ENST00000394900.3	+	10	1075	c.846C>T	c.(844-846)gaC>gaT	p.D282D		NM_015533.3	NP_056348.2	Q3LXA3	DHAK_HUMAN	dihydroxyacetone kinase 2 homolog (S. cerevisiae)	282	DhaK.				glycerol metabolic process	cytosol	ATP binding|FAD-AMP lyase (cyclizing) activity|glycerone kinase activity|metal ion binding			NS(1)|breast(3)|endometrium(3)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	23						TCATAGCCGACGCTACCGTCC	0.587													13	39					0	0	1	0	0	T	61110297	C	T	61110297	2	4	493	1	0	0	0	0	0	0	0	1	4252	535	19	1		1	DAK	11	61110297	Silent	SNP	C	TCGA-VM-A8C8-01A-11D-A36O-08	26430119	61110297	73896219	29	37708											
WDR74	54663	broad.mit.edu	37	11	62601766	62601766	+	Missense_Mutation	SNP	C	C	T			TCGA-VM-A8C8-01A-11D-A36O-08	TCGA-VM-A8C8-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3ccc86-7b36-460b-a757-841b9f765c74	1574abba-d04f-4c98-b8be-8a8c3182ab01	g.chr11:62601766C>T	ENST00000525239.1	-	9	1294	c.757G>A	c.(757-759)Gaa>Aaa	p.E253K	WDR74_ENST00000529106.1_Missense_Mutation_p.E253K|WDR74_ENST00000278856.4_Missense_Mutation_p.E253K|WDR74_ENST00000311713.7_Missense_Mutation_p.E253K|WDR74_ENST00000525752.1_Missense_Mutation_p.E196K			Q6RFH5	WDR74_HUMAN	WD repeat domain 74	253						nucleolus				kidney(2)|large_intestine(1)|liver(1)|lung(3)|ovary(1)	8						AGGTCAATTTCTGCCAGCTGC	0.567													24	131					0	0	1	0	0	T	62601766	C	T	62601766	3	4	493	1	0	0	0	0	1	0	0	0	17384	922	32	2	416	2	WDR74	11	62601766	Missense_Mutation	SNP	C	TCGA-VM-A8C8-01A-11D-A36O-08	1491469	62601766	72404750	30	37709											
PTPN11	5781	broad.mit.edu	37	12	112924324	112924324	+	Missense_Mutation	SNP	C	C	T			TCGA-VM-A8C8-01A-11D-A36O-08	TCGA-VM-A8C8-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3ccc86-7b36-460b-a757-841b9f765c74	1574abba-d04f-4c98-b8be-8a8c3182ab01	g.chr12:112924324C>T	ENST00000351677.2	+	11	1468	c.1270C>T	c.(1270-1272)Ccg>Tcg	p.P424S	PTPN11_ENST00000392597.1_Missense_Mutation_p.P424S	NM_002834.3	NP_002825.3	Q06124	PTN11_HUMAN	protein tyrosine phosphatase, non-receptor type 11	428	Tyrosine-protein phosphatase.				axon guidance|cell junction assembly|ephrin receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|platelet activation|regulation of cell adhesion mediated by integrin|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway	cytosol	non-membrane spanning protein tyrosine phosphatase activity|protein binding			NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(406)|kidney(2)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(3)|stomach(3)	451						TCGGACCTGGCCGGACCACGG	0.562			Mis		"JMML, AML, MDS"		Noonan Syndrome		Noonan syndrome				3	36					0	0	1	0	0	T	112924324	C	T	112924324	3	4	493	1	0	0	0	0	1	0	0	0	12830	739	26	2	1312	2	PTPN11	12	112924324	Missense_Mutation	SNP	C	TCGA-VM-A8C8-01A-11D-A36O-08		112924324	20927571	31	37710											
MYCBP2	23077	broad.mit.edu	37	13	77844139	77844139	+	Missense_Mutation	SNP	T	T	G			TCGA-VM-A8C8-01A-11D-A36O-08	TCGA-VM-A8C8-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3ccc86-7b36-460b-a757-841b9f765c74	1574abba-d04f-4c98-b8be-8a8c3182ab01	g.chr13:77844139T>G	ENST00000407578.2	-	7	1514	c.1248A>C	c.(1246-1248)ttA>ttC	p.L416F	MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000544440.2_Missense_Mutation_p.L378F|MYCBP2_ENST00000357337.6_Missense_Mutation_p.L378F	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	378					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		GAGCATACCCTAACCAAGACT	0.299													9	70					0	0	1	0	0	G	77844139	T	G	77844139	3	3	493	1	0	0	0	0	1	0	0	0	10066	1519	53	5	13096	5	MYCBP2	13	77844139	Missense_Mutation	SNP	T	TCGA-VM-A8C8-01A-11D-A36O-08		77844139	37325739	32	37711											
INO80	54617	broad.mit.edu	37	15	41308307	41308307	+	Silent	SNP	G	G	A			TCGA-VM-A8C8-01A-11D-A36O-08	TCGA-VM-A8C8-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3ccc86-7b36-460b-a757-841b9f765c74	1574abba-d04f-4c98-b8be-8a8c3182ab01	g.chr15:41308307G>A	ENST00000361937.3	-	27	3805	c.3381C>T	c.(3379-3381)acC>acT	p.T1127T	INO80_ENST00000401393.3_Silent_p.T1127T			Q9ULG1	INO80_HUMAN	INO80 complex subunit	1127	Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2.|Helicase C-terminal.				cell division|cellular response to ionizing radiation|cellular response to UV|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of cell growth|positive regulation of DNA replication involved in S phase|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly|UV-damage excision repair	Ino80 complex|microtubule	actin binding|alpha-tubulin binding|ATP binding|ATPase activity|DNA binding|DNA helicase activity			NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						CTATCATCCTGGTCATCTGGG	0.473													21	36					0	0	1	0	0	A	41308307	G	A	41308307	2	1	493	1	0	0	0	0	0	0	0	1	7790	1335	47	2		2	INO80	15	41308307	Silent	SNP	G	TCGA-VM-A8C8-01A-11D-A36O-08		41308307	61223085	33	37712											
SPPL2A	84888	broad.mit.edu	37	15	51028304	51028304	+	Missense_Mutation	SNP	T	T	A			TCGA-VM-A8C8-01A-11D-A36O-08	TCGA-VM-A8C8-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3ccc86-7b36-460b-a757-841b9f765c74	1574abba-d04f-4c98-b8be-8a8c3182ab01	g.chr15:51028304T>A	ENST00000261854.5	-	8	1200	c.926A>T	c.(925-927)gAa>gTa	p.E309V		NM_032802.3	NP_116191.2	Q8TCT8	PSL2_HUMAN	signal peptide peptidase like 2A	309						integral to membrane	aspartic-type endopeptidase activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	15				all cancers(107;0.000712)|GBM - Glioblastoma multiforme(94;0.00314)		ATACCTGTCTTCATTTCGAAA	0.353													15	60					0	0	1	0	0	A	51028304	T	A	51028304	3	1	493	1	0	0	0	0	1	0	0	0	15144	1783	62	5	668	5	SPPL2A	15	51028304	Missense_Mutation	SNP	T	TCGA-VM-A8C8-01A-11D-A36O-08	9719997	51028304	51503088	34	37713											
PPL	5493	broad.mit.edu	37	16	4945354	4945354	+	Nonsense_Mutation	SNP	G	G	A			TCGA-VM-A8C8-01A-11D-A36O-08	TCGA-VM-A8C8-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3ccc86-7b36-460b-a757-841b9f765c74	1574abba-d04f-4c98-b8be-8a8c3182ab01	g.chr16:4945354G>A	ENST00000345988.2	-	11	1239	c.1150C>T	c.(1150-1152)Cga>Tga	p.R384*	PPL_ENST00000590782.2_Nonsense_Mutation_p.R382*	NM_002705.4	NP_002696	O60437	PEPL_HUMAN	periplakin	384					keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						TGCTGGCCTCGCTTCTGCAGC	0.647													9	41					0	0	1	0	0	A	4945354	G	A	4945354	4	1	493	1	0	0	0	0	0	1	0	0	12383	1095	38	1	4168	1	PPL	16	4945354	Nonsense_Mutation	SNP	G	TCGA-VM-A8C8-01A-11D-A36O-08		4945354	85409399	35	37714											
CHD9	80205	broad.mit.edu	37	16	53190447	53190447	+	Missense_Mutation	SNP	C	C	G			TCGA-VM-A8C8-01A-11D-A36O-08	TCGA-VM-A8C8-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3ccc86-7b36-460b-a757-841b9f765c74	1574abba-d04f-4c98-b8be-8a8c3182ab01	g.chr16:53190447C>G	ENST00000566029.1	+	2	655	c.446C>G	c.(445-447)tCt>tGt	p.S149C	CHD9_ENST00000398510.3_Missense_Mutation_p.S149C|CHD9_ENST00000447540.1_Missense_Mutation_p.S149C|CHD9_ENST00000564845.1_Missense_Mutation_p.S149C			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	149					cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				CATTCACACTCTATGCATCAA	0.418													20	78					0	0	1	0	0	G	53190447	C	G	53190447	3	3	493	1	0	0	0	0	1	0	0	0	3354	913	32	4	448	4	CHD9	16	53190447	Missense_Mutation	SNP	C	TCGA-VM-A8C8-01A-11D-A36O-08	48245093	53190447	37164306	36	37715											
TP53	7157	broad.mit.edu	37	17	7578190	7578190	+	Missense_Mutation	SNP	T	T	C	rs121912666		TCGA-VM-A8C8-01A-11D-A36O-08	TCGA-VM-A8C8-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3ccc86-7b36-460b-a757-841b9f765c74	1574abba-d04f-4c98-b8be-8a8c3182ab01	g.chr17:7578190T>C	ENST00000420246.2	-	6	791	c.659A>G	c.(658-660)tAt>tGt	p.Y220C	TP53_ENST00000574684.1_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.Y220C|TP53_ENST00000269305.4_Missense_Mutation_p.Y220C|TP53_ENST00000413465.2_Missense_Mutation_p.Y220C|TP53_ENST00000359597.4_Missense_Mutation_p.Y220C|TP53_ENST00000455263.2_Missense_Mutation_p.Y220C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	220	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 a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.Y220C(278)|p.Y127C(24)|p.Y220S(12)|p.?(11)|p.0?(8)|p.D208fs*1(1)|p.Y220_P223delYEPP(1)|p.V218_E224delVPYEPPE(1)|p.V218_E221delVPYE(1)|p.Y127S(1)|p.V218_Y220delVPY(1)|p.Y220fs*25(1)|p.V216_Y220delVVVPY(1)|p.Y220fs*2(1)|p.V218fs*26(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)		AGGCGGCTCATAGGGCACCAC	0.557		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)			29	9					0	0	1	0	0	C	7578190	T	C	7578190	3	2	493	1	0	0	0	0	1	0	0	0	16442	1406	49	3	635	3	TP53	17	7578190	Missense_Mutation	SNP	T	TCGA-VM-A8C8-01A-11D-A36O-08		7578190	73617020	37	37716											
COX10	1352	broad.mit.edu	37	17	13980254	13980254	+	Missense_Mutation	SNP	T	T	C			TCGA-VM-A8C8-01A-11D-A36O-08	TCGA-VM-A8C8-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3ccc86-7b36-460b-a757-841b9f765c74	1574abba-d04f-4c98-b8be-8a8c3182ab01	g.chr17:13980254T>C	ENST00000261643.3	+	3	457	c.380T>C	c.(379-381)aTt>aCt	p.I127T	COX10_ENST00000429152.2_Missense_Mutation_p.I127T|COX10_ENST00000537334.1_Intron|COX10_ENST00000536205.1_5'UTR	NM_001303.3	NP_001294.2	Q12887	COX10_HUMAN	cytochrome c oxidase assembly homolog 10 (yeast)	127					heme a biosynthetic process|heme O biosynthetic process|respiratory chain complex IV assembly	integral to membrane|mitochondrial membrane	protoheme IX farnesyltransferase activity			cervix(1)|endometrium(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14		all_lung(20;0.06)|Lung SC(565;0.168)		UCEC - Uterine corpus endometrioid carcinoma (92;0.106)		GACTCAGTAATTGAAGACTCA	0.423													15	64					0	0	1	0	0	C	13980254	T	C	13980254	3	2	493	1	0	0	0	0	1	0	0	0	3785	1493	52	3	390	3	COX10	17	13980254	Missense_Mutation	SNP	T	TCGA-VM-A8C8-01A-11D-A36O-08	6402064	13980254	67214956	38	37717											
UBE2Z	65264	broad.mit.edu	37	17	47000214	47000214	+	Missense_Mutation	SNP	T	T	C			TCGA-VM-A8C8-01A-11D-A36O-08	TCGA-VM-A8C8-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3ccc86-7b36-460b-a757-841b9f765c74	1574abba-d04f-4c98-b8be-8a8c3182ab01	g.chr17:47000214T>C	ENST00000360943.5	+	6	944	c.809T>C	c.(808-810)gTg>gCg	p.V270A		NM_023079.4	NP_075567.2	Q9H832	UBE2Z_HUMAN	ubiquitin-conjugating enzyme E2Z	270					apoptosis	cytoplasm|nucleus	ATP binding|ubiquitin-protein ligase activity										TCCAGAGGGGTGATGGAGAAG	0.473													10	32					0	0	1	0	0	C	47000214	T	C	47000214	3	2	493	1	0	0	0	0	1	0	0	0	16939	1696	59	3	831	3	UBE2Z	17	47000214	Missense_Mutation	SNP	T	TCGA-VM-A8C8-01A-11D-A36O-08	33019960	47000214	34194996	39	37718											
H3F3B	3021	broad.mit.edu	37	17	73774698	73774698	+	Missense_Mutation	SNP	C	C	T			TCGA-VM-A8C8-01A-11D-A36O-08	TCGA-VM-A8C8-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3ccc86-7b36-460b-a757-841b9f765c74	1574abba-d04f-4c98-b8be-8a8c3182ab01	g.chr17:73774698C>T	ENST00000254810.4	-	4	521	c.389G>A	c.(388-390)cGg>cAg	p.R130Q	H3F3B_ENST00000589599.1_Missense_Mutation_p.R130Q|H3F3B_ENST00000591890.1_3'UTR|H3F3B_ENST00000587560.1_Missense_Mutation_p.R130Q|H3F3B_ENST00000593254.1_5'UTR|H3F3B_ENST00000592643.1_Missense_Mutation_p.G106R|H3F3B_ENST00000586607.1_Missense_Mutation_p.R130Q	NM_005324.3	NP_005315.1	P84243	H33_HUMAN	H3 histone, family 3B (H3.3B)	130					blood coagulation|nucleosome assembly	nucleoplasm|nucleosome	DNA binding			large_intestine(1)|lung(4)|ovary(2)|skin(1)	8	all_cancers(13;1.5e-07)		all cancers(21;2.61e-06)|Epithelial(20;7.39e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|LUSC - Lung squamous cell carcinoma(166;0.154)			TCCCCGTATCCGGCGAGCCAA	0.443													4	103					0	0	1	0	0	T	73774698	C	T	73774698	3	4	493	1	0	0	0	0	1	0	0	0	6975	652	23	1	25	1	H3F3B	17	73774698	Missense_Mutation	SNP	C	TCGA-VM-A8C8-01A-11D-A36O-08	26774484	73774698	7420512	40	37719											
CLEC4G	339390	broad.mit.edu	37	19	7794297	7794297	+	Silent	SNP	G	G	A			TCGA-VM-A8C8-01A-11D-A36O-08	TCGA-VM-A8C8-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3ccc86-7b36-460b-a757-841b9f765c74	1574abba-d04f-4c98-b8be-8a8c3182ab01	g.chr19:7794297G>A	ENST00000328853.5	-	9	905	c.837C>T	c.(835-837)gaC>gaT	p.D279D		NM_001244856.1|NM_198492.3	NP_001231785.1|NP_940894.1	Q6UXB4	CLC4G_HUMAN	C-type lectin domain family 4, member G	279	C-type lectin.					integral to membrane	protein binding|sugar binding			breast(1)|cervix(2)|endometrium(1)|large_intestine(1)|lung(1)	6						CCTTCTCGCTGTCACACGGTG	0.627													5	26					0	0	1	0	0	A	7794297	G	A	7794297	2	1	493	1	0	0	0	0	0	0	0	1	3540	1368	48	2		2	CLEC4G	19	7794297	Silent	SNP	G	TCGA-VM-A8C8-01A-11D-A36O-08		7794297	51334686	41	37720											
COL5A3	50509	broad.mit.edu	37	19	10079133	10079133	+	Silent	SNP	C	C	T			TCGA-VM-A8C8-01A-11D-A36O-08	TCGA-VM-A8C8-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3ccc86-7b36-460b-a757-841b9f765c74	1574abba-d04f-4c98-b8be-8a8c3182ab01	g.chr19:10079133C>T	ENST00000264828.3	-	59	4327	c.4242G>A	c.(4240-4242)ccG>ccA	p.P1414P		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	1414	Triple-helical region.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			CAGCTTCTCCCGGGGGGCCAA	0.592													19	90					0	0	1	0	0	T	10079133	C	T	10079133	2	4	493	1	0	0	0	0	0	0	0	1	3721	639	23	1		1	COL5A3	19	10079133	Silent	SNP	C	TCGA-VM-A8C8-01A-11D-A36O-08	2284836	10079133	49049850	42	37721											
CD97	976	broad.mit.edu	37	19	14492346	14492346	+	Missense_Mutation	SNP	G	G	A			TCGA-VM-A8C8-01A-11D-A36O-08	TCGA-VM-A8C8-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3ccc86-7b36-460b-a757-841b9f765c74	1574abba-d04f-4c98-b8be-8a8c3182ab01	g.chr19:14492346G>A	ENST00000242786.5	+	1	91	c.11G>A	c.(10-12)cGc>cAc	p.R4H	CD97_ENST00000358600.3_Missense_Mutation_p.R4H|CD97_ENST00000587728.1_Intron|CD97_ENST00000357355.3_Missense_Mutation_p.R4H	NM_078481.3	NP_510966.1	P48960	CD97_HUMAN	CD97 molecule	4					cell adhesion|cell-cell signaling|cellular component movement|immune response|inflammatory response|neuropeptide signaling pathway	extracellular space|integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						ATGGGAGGCCGCGTCTTTCTC	0.672													3	34					0	0	1	0	0	A	14492346	G	A	14492346	3	1	493	1	0	0	0	0	1	0	0	0	3071	1087	38	1	13	1	CD97	19	14492346	Missense_Mutation	SNP	G	TCGA-VM-A8C8-01A-11D-A36O-08	4413213	14492346	44636637	43	37722											
NWD1	284434	broad.mit.edu	37	19	16905360	16905360	+	Silent	SNP	C	C	T			TCGA-VM-A8C8-01A-11D-A36O-08	TCGA-VM-A8C8-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3ccc86-7b36-460b-a757-841b9f765c74	1574abba-d04f-4c98-b8be-8a8c3182ab01	g.chr19:16905360C>T	ENST00000524140.2	+	15	3718	c.3300C>T	c.(3298-3300)gcC>gcT	p.A1100A	NWD1_ENST00000379808.3_Silent_p.A1100A|NWD1_ENST00000523826.1_Silent_p.A894A|NWD1_ENST00000339803.6_Silent_p.A965A|NWD1_ENST00000552788.1_Silent_p.A1100A|NWD1_ENST00000549814.1_Silent_p.A1100A	NM_001007525.3	NP_001007526.3	Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	1100							ATP binding			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CCCTCCTCGCCGCAGGTAGCG	0.547													6	22					0	0	1	0	0	T	16905360	C	T	16905360	2	4	493	1	0	0	0	0	0	0	0	1	10829	639	23	1		1	NWD1	19	16905360	Silent	SNP	C	TCGA-VM-A8C8-01A-11D-A36O-08	2413014	16905360	42223623	44	37723											
CST4	1472	broad.mit.edu	37	20	23667836	23667836	+	Silent	SNP	G	G	A			TCGA-VM-A8C8-01A-11D-A36O-08	TCGA-VM-A8C8-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3ccc86-7b36-460b-a757-841b9f765c74	1574abba-d04f-4c98-b8be-8a8c3182ab01	g.chr20:23667836G>A	ENST00000217423.3	-	2	301	c.231C>T	c.(229-231)acC>acT	p.T77T		NM_001899.2	NP_001890.1	P01036	CYTS_HUMAN	cystatin S	77			T -> N (in a breast cancer sample; somatic mutation).			extracellular region	cysteine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|large_intestine(2)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	16	Lung NSC(19;0.0789)|Colorectal(13;0.0993)|all_lung(19;0.169)					CCCCCCCAAAGGTCTGCACAC	0.562													43	145					0	0	1	0	0	A	23667836	G	A	23667836	2	1	493	1	0	0	0	0	0	0	0	1	3999	987	35	2		2	CST4	20	23667836	Silent	SNP	G	TCGA-VM-A8C8-01A-11D-A36O-08		23667836	39357684	45	37724											
DNMT3B	1789	broad.mit.edu	37	20	31387129	31387129	+	Missense_Mutation	SNP	C	C	T			TCGA-VM-A8C8-01A-11D-A36O-08	TCGA-VM-A8C8-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3ccc86-7b36-460b-a757-841b9f765c74	1574abba-d04f-4c98-b8be-8a8c3182ab01	g.chr20:31387129C>T	ENST00000328111.2	+	16	2075	c.1754C>T	c.(1753-1755)gCg>gTg	p.A585V	DNMT3B_ENST00000344505.4_Missense_Mutation_p.A565V|DNMT3B_ENST00000353855.2_Missense_Mutation_p.A565V|DNMT3B_ENST00000348286.2_Missense_Mutation_p.A565V|DNMT3B_ENST00000456297.2_Missense_Mutation_p.A489V|DNMT3B_ENST00000443239.3_Missense_Mutation_p.A523V|DNMT3B_ENST00000375623.4_3'UTR|DNMT3B_ENST00000201963.3_Missense_Mutation_p.A577V	NM_006892.3	NP_008823.1	Q9UBC3	DNM3B_HUMAN	DNA (cytosine-5-)-methyltransferase 3 beta	585			A -> V (in ICF).		negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation		metal ion binding|protein binding|transcription corepressor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GATGGCATCGCGACAGGTGAG	0.577													8	8					0	0	1	0	0	T	31387129	C	T	31387129	3	4	493	1	0	0	0	0	1	0	0	0	4704	768	27	1	1852	1	DNMT3B	20	31387129	Missense_Mutation	SNP	C	TCGA-VM-A8C8-01A-11D-A36O-08	7719293	31387129	31638391	46	37725											
TMPRSS15	5651	broad.mit.edu	37	21	19666729	19666729	+	Missense_Mutation	SNP	T	T	C			TCGA-VM-A8C8-01A-11D-A36O-08	TCGA-VM-A8C8-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3ccc86-7b36-460b-a757-841b9f765c74	1574abba-d04f-4c98-b8be-8a8c3182ab01	g.chr21:19666729T>C	ENST00000284885.3	-	21	2377	c.2344A>G	c.(2344-2346)Acc>Gcc	p.T782A		NM_002772.2	NP_002763	P98073	ENTK_HUMAN	transmembrane protease, serine 15	782					proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						ATCTTTGGGGTGATGTCTTGA	0.458													28	106					0	0	1	0	0	C	19666729	T	C	19666729	3	2	493	1	0	0	0	0	1	0	0	0	16306	1696	59	3	735	3	TMPRSS15	21	19666729	Missense_Mutation	SNP	T	TCGA-VM-A8C8-01A-11D-A36O-08		19666729	28463166	47	37726											
TSPAN7	7102	broad.mit.edu	37	X	38546915	38546915	+	Missense_Mutation	SNP	G	G	A			TCGA-VM-A8C8-01A-11D-A36O-08	TCGA-VM-A8C8-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3ccc86-7b36-460b-a757-841b9f765c74	1574abba-d04f-4c98-b8be-8a8c3182ab01	g.chrX:38546915G>A	ENST00000378482.2	+	7	921	c.744G>A	c.(742-744)atG>atA	p.M248I	TSPAN7_ENST00000286824.6_Missense_Mutation_p.M265I|TSPAN7_ENST00000545599.1_Missense_Mutation_p.M222I|TM4SF2_ENST00000465127.1_Missense_Mutation_p.M278I|TSPAN7_ENST00000422612.2_Missense_Mutation_p.M274I	NM_004615.3	NP_004606.2	P41732	TSN7_HUMAN	tetraspanin 7	248					interspecies interaction between organisms	integral to plasma membrane				haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	11						AGTATGAGATGGTGTAAGGAG	0.498													3	28					0	0	1	0	0	A	38546915	G	A	38546915	3	1	493	1	0	0	0	0	1	0	0	0	16713	1348	47	2	770	2	TSPAN7	23	38546915	Missense_Mutation	SNP	G	TCGA-VM-A8C8-01A-11D-A36O-08		38546915	116723645	48	37727											
PORCN	64840	broad.mit.edu	37	X	48369767	48369767	+	Missense_Mutation	SNP	G	G	T			TCGA-VM-A8C8-01A-11D-A36O-08	TCGA-VM-A8C8-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3ccc86-7b36-460b-a757-841b9f765c74	1574abba-d04f-4c98-b8be-8a8c3182ab01	g.chrX:48369767G>T	ENST00000367574.4	+	3	513	c.8G>T	c.(7-9)tGg>tTg	p.W3L	PORCN_ENST00000355092.3_Missense_Mutation_p.W74L|PORCN_ENST00000326194.6_Missense_Mutation_p.W74L|PORCN_ENST00000359882.4_Missense_Mutation_p.W74L|PORCN_ENST00000537758.1_Missense_Mutation_p.W74L|PORCN_ENST00000355961.4_Missense_Mutation_p.W74L|PORCN_ENST00000361988.3_Missense_Mutation_p.W74L	NM_001282167.1	NP_001269096.1	Q9H237	PORCN_HUMAN	porcupine homolog (Drosophila)	74					Wnt receptor signaling pathway	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CACATGGTTTGGGTCGTGCTG	0.567											OREG0019764	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	29	122					4.87955e-14	4.95462e-14	1	1	0	T	48369767	G	T	48369767	3	4	493	1	0	0	0	0	1	0	0	0	12306	1357	47	5	227	5	PORCN	23	48369767	Missense_Mutation	SNP	G	TCGA-VM-A8C8-01A-11D-A36O-08	9822852	48369767	106900793	49	37728											
AKAP4	8852	broad.mit.edu	37	X	49961552	49961552	+	Missense_Mutation	SNP	T	T	C			TCGA-VM-A8C8-01A-11D-A36O-08	TCGA-VM-A8C8-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3ccc86-7b36-460b-a757-841b9f765c74	1574abba-d04f-4c98-b8be-8a8c3182ab01	g.chrX:49961552T>C	ENST00000376056.2	-	4	389	c.239A>G	c.(238-240)gAc>gGc	p.D80G	AKAP4_ENST00000376058.2_Missense_Mutation_p.D80G|AKAP4_ENST00000358526.2_Missense_Mutation_p.D89G|AKAP4_ENST00000376064.3_Missense_Mutation_p.D80G|AKAP4_ENST00000481402.1_5'UTR			Q5JQC9	AKAP4_HUMAN	A kinase (PRKA) anchor protein 4	89					cell projection organization|single fertilization|sperm motility	cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum	protein kinase A binding			NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41	Ovarian(276;0.236)					CTTAGACTGGTCTTTCTTCTC	0.438													13	63					0	0	1	0	0	C	49961552	T	C	49961552	3	2	493	1	0	0	0	0	1	0	0	0	450	1667	58	3	2310	3	AKAP4	23	49961552	Missense_Mutation	SNP	T	TCGA-VM-A8C8-01A-11D-A36O-08	1591785	49961552	105309008	50	37729											
ATRX	546	broad.mit.edu	37	X	76938788	76938788	+	Nonsense_Mutation	SNP	G	G	A			TCGA-VM-A8C8-01A-11D-A36O-08	TCGA-VM-A8C8-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3ccc86-7b36-460b-a757-841b9f765c74	1574abba-d04f-4c98-b8be-8a8c3182ab01	g.chrX:76938788G>A	ENST00000373344.5	-	9	2174	c.1960C>T	c.(1960-1962)Cga>Tga	p.R654*	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Nonsense_Mutation_p.R616*	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	654					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)	GGGGATCTTCGAAGATCAGAT	0.393			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						87	156					0	0	1	0	0	A	76938788	G	A	76938788	4	1	493	1	0	0	0	0	0	1	0	0	1206	1066	37	1	5626	1	ATRX	23	76938788	Nonsense_Mutation	SNP	G	TCGA-VM-A8C8-01A-11D-A36O-08	26977236	76938788	78331772	51	37730											
SLITRK2	84631	broad.mit.edu	37	X	144904070	144904070	+	Missense_Mutation	SNP	A	A	G			TCGA-VM-A8C8-01A-11D-A36O-08	TCGA-VM-A8C8-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3ccc86-7b36-460b-a757-841b9f765c74	1574abba-d04f-4c98-b8be-8a8c3182ab01	g.chrX:144904070A>G	ENST00000370490.1	+	1	4382	c.127A>G	c.(127-129)Aat>Gat	p.N43D	SLITRK2_ENST00000428560.2_Missense_Mutation_p.N43D|SLITRK2_ENST00000434188.2_Missense_Mutation_p.N43D|SLITRK2_ENST00000447897.2_Missense_Mutation_p.N43D|SLITRK2_ENST00000413937.2_Missense_Mutation_p.N43D			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	43						integral to membrane				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					AAACGTACTGAATATCAACTG	0.453													29	24					0	0	1	0	0	G	144904070	A	G	144904070	3	3	493	1	0	0	0	0	1	0	0	0	14797	246	9	3	129	3	SLITRK2	23	144904070	Missense_Mutation	SNP	A	TCGA-VM-A8C8-01A-11D-A36O-08	67965282	144904070	10366490	52	37731											
NSDHL	50814	broad.mit.edu	37	X	152034434	152034434	+	Silent	SNP	C	C	T			TCGA-VM-A8C8-01A-11D-A36O-08	TCGA-VM-A8C8-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3ccc86-7b36-460b-a757-841b9f765c74	1574abba-d04f-4c98-b8be-8a8c3182ab01	g.chrX:152034434C>T	ENST00000370274.3	+	6	809	c.615C>T	c.(613-615)ggC>ggT	p.G205G	NSDHL_ENST00000440023.1_Silent_p.G205G	NM_015922.2	NP_057006.1	Q15738	NSDHL_HUMAN	NAD(P) dependent steroid dehydrogenase-like	205			G -> S (in CHILD).		cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|C-3 sterol dehydrogenase (C-4 sterol decarboxylase) activity|sterol-4-alpha-carboxylate 3-dehydrogenase (decarboxylating) activity			NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(5)	15	Acute lymphoblastic leukemia(192;6.56e-05)				NADH(DB00157)	GCATTTTCGGCCCAAGGGACC	0.582													31	60					0	0	1	0	0	T	152034434	C	T	152034434	2	4	493	1	0	0	0	0	0	0	0	1	10718	726	26	2		2	NSDHL	23	152034434	Silent	SNP	C	TCGA-VM-A8C8-01A-11D-A36O-08	7130364	152034434	3236126	53	37732											
PRAMEF1	65121	broad.mit.edu	37	1	12854386	12854386	+	Silent	SNP	C	C	T	rs1063767		TCGA-VM-A8C9-01A-11D-A36O-08	TCGA-VM-A8C9-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47654d66-7743-498f-b2e3-872d9100560a	8b9b4b1e-ae8d-4578-b7b6-7688526fc3fd	g.chr1:12854386C>T	ENST00000332296.7	+	3	713	c.610C>T	c.(610-612)Ctg>Ttg	p.L204L		NM_023013.2	NP_075389.1	O95521	PRAM1_HUMAN	PRAME family member 1	204			L -> M (in dbSNP:rs1063767).							cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		AATAATATACCTGAATAGTAT	0.393													6	539					0	0	1	0	0	T	12854386	C	T	12854386	2	4	494	1	0	0	0	0	0	0	0	1	12474	680	24	2		2	PRAMEF1	1	12854386	Silent	SNP	C	TCGA-VM-A8C9-01A-11D-A36O-08		12854386	236396235	1	37733											
SORT1	6272	broad.mit.edu	37	1	109878960	109878960	+	Missense_Mutation	SNP	T	T	C			TCGA-VM-A8C9-01A-11D-A36O-08	TCGA-VM-A8C9-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47654d66-7743-498f-b2e3-872d9100560a	8b9b4b1e-ae8d-4578-b7b6-7688526fc3fd	g.chr1:109878960T>C	ENST00000256637.6	-	11	1331	c.1273A>G	c.(1273-1275)Atc>Gtc	p.I425V	SORT1_ENST00000538502.1_Missense_Mutation_p.I288V	NM_002959.5	NP_002950.3	Q99523	SORT_HUMAN	sortilin 1	425					endocytosis|endosome to lysosome transport|endosome transport via multivesicular body sorting pathway|glucose import|Golgi to endosome transport|induction of apoptosis by extracellular signals|myotube differentiation|negative regulation of apoptosis|negative regulation of lipoprotein lipase activity|neuropeptide signaling pathway|ossification|plasma membrane to endosome transport|regulation of gene expression|response to insulin stimulus|vesicle organization	cell surface|coated pit|early endosome|endoplasmic reticulum membrane|endosome membrane|Golgi cisterna membrane|integral to membrane|lysosomal membrane|microsome|nuclear membrane|perinuclear region of cytoplasm|plasma membrane	enzyme binding|nerve growth factor binding|nerve growth factor receptor activity|neurotensin receptor activity, non-G-protein coupled			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|prostate(1)|skin(1)	26		all_epithelial(167;4.69e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0529)|Colorectal(144;0.142)|Epithelial(280;0.145)|Kidney(133;0.169)|all cancers(265;0.184)		ATGGTCTGGATAGAATTATCT	0.428													5	31					0	0	1	0	0	C	109878960	T	C	109878960	3	2	494	1	0	0	0	0	1	0	0	0	14989	1406	49	3	1262	3	SORT1	1	109878960	Missense_Mutation	SNP	T	TCGA-VM-A8C9-01A-11D-A36O-08	97024574	109878960	139371661	2	37734											
PARP9	83666	broad.mit.edu	37	3	122274172	122274172	+	Silent	SNP	C	C	T			TCGA-VM-A8C9-01A-11D-A36O-08	TCGA-VM-A8C9-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47654d66-7743-498f-b2e3-872d9100560a	8b9b4b1e-ae8d-4578-b7b6-7688526fc3fd	g.chr3:122274172C>T	ENST00000462315.1	-	4	1139	c.846G>A	c.(844-846)ctG>ctA	p.L282L	PARP9_ENST00000477522.2_Silent_p.L282L|PARP9_ENST00000471785.1_Silent_p.L282L|PARP9_ENST00000492382.1_Intron|PARP9_ENST00000360356.2_Silent_p.L317L	NM_001146106.1	NP_001139578.1	Q8IXQ6	PARP9_HUMAN	poly (ADP-ribose) polymerase family, member 9	317	Macro 1.				cell migration	cytosol|nucleus	NAD+ ADP-ribosyltransferase activity|protein binding			endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	34				GBM - Glioblastoma multiforme(114;0.0519)		TCTGGAGGGTCAGGTTGTTCA	0.453													7	65					0	0	1	0	0	T	122274172	C	T	122274172	2	4	494	1	0	0	0	0	0	0	0	1	11513	813	29	2		2	PARP9	3	122274172	Silent	SNP	C	TCGA-VM-A8C9-01A-11D-A36O-08		122274172	75748258	3	37735											
PIK3CA	5290	broad.mit.edu	37	3	178938891	178938891	+	Missense_Mutation	SNP	G	G	T			TCGA-VM-A8C9-01A-11D-A36O-08	TCGA-VM-A8C9-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47654d66-7743-498f-b2e3-872d9100560a	8b9b4b1e-ae8d-4578-b7b6-7688526fc3fd	g.chr3:178938891G>T	ENST00000263967.3	+	14	2290	c.2133G>T	c.(2131-2133)aaG>aaT	p.K711N		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	711					epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity			NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			CAATGGAAAAGCTCATTAACT	0.433		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			6	25					5.9392e-07	5.9392e-07	1	1	0	T	178938891	G	T	178938891	3	4	494	1	0	0	0	0	1	0	0	0	11961	962	34	4	2183	4	PIK3CA	3	178938891	Missense_Mutation	SNP	G	TCGA-VM-A8C9-01A-11D-A36O-08	56664719	178938891	19083539	4	37736											
PCDH10	57575	broad.mit.edu	37	4	134072440	134072440	+	Missense_Mutation	SNP	T	T	C			TCGA-VM-A8C9-01A-11D-A36O-08	TCGA-VM-A8C9-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47654d66-7743-498f-b2e3-872d9100560a	8b9b4b1e-ae8d-4578-b7b6-7688526fc3fd	g.chr4:134072440T>C	ENST00000264360.5	+	1	1971	c.1145T>C	c.(1144-1146)gTg>gCg	p.V382A		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10		Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		CTTTTCAGCGTGACTGACCGC	0.582													5	85					0	0	1	0	0	C	134072440	T	C	134072440	3	2	494	1	0	0	0	0	1	0	0	0	11554	1696	59	3	1147	3	PCDH10	4	134072440	Missense_Mutation	SNP	T	TCGA-VM-A8C9-01A-11D-A36O-08		134072440	57081836	5	37737											
SLC17A4	10050	broad.mit.edu	37	6	25776865	25776865	+	Missense_Mutation	SNP	T	T	A			TCGA-VM-A8C9-01A-11D-A36O-08	TCGA-VM-A8C9-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47654d66-7743-498f-b2e3-872d9100560a	8b9b4b1e-ae8d-4578-b7b6-7688526fc3fd	g.chr6:25776865T>A	ENST00000377905.4	+	9	1149	c.1030T>A	c.(1030-1032)Tgc>Agc	p.C344S	SLC17A4_ENST00000397076.2_Missense_Mutation_p.C114S|SLC17A4_ENST00000439485.2_Missense_Mutation_p.C114S	NM_005495.2	NP_005486.1	Q9Y2C5	S17A4_HUMAN	solute carrier family 17, member 4	344					phosphate metabolic process	integral to plasma membrane|membrane fraction	sodium:phosphate symporter activity			breast(4)|endometrium(1)|kidney(4)|large_intestine(3)|lung(21)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						TGGATGTATCTGCATTATCCT	0.507													4	76					0	0	1	0	0	A	25776865	T	A	25776865	3	1	494	1	0	0	0	0	1	0	0	0	14474	1580	55	5	1060	5	SLC17A4	6	25776865	Missense_Mutation	SNP	T	TCGA-VM-A8C9-01A-11D-A36O-08		25776865	145338202	6	37738											
GFRAL	389400	broad.mit.edu	37	6	55216162	55216162	+	Missense_Mutation	SNP	C	C	T			TCGA-VM-A8C9-01A-11D-A36O-08	TCGA-VM-A8C9-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47654d66-7743-498f-b2e3-872d9100560a	8b9b4b1e-ae8d-4578-b7b6-7688526fc3fd	g.chr6:55216162C>T	ENST00000340465.2	+	5	568	c.482C>T	c.(481-483)cCg>cTg	p.P161L		NM_207410.2	NP_997293.2	Q6UXV0	GFRAL_HUMAN	GDNF family receptor alpha like	161						integral to membrane	receptor activity			NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	48	Lung NSC(77;0.0875)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			AATGGAAATCCGTGTGATCTG	0.448													7	144					0	0	1	0	0	T	55216162	C	T	55216162	3	4	494	1	0	0	0	0	1	0	0	0	6393	652	23	1	500	1	GFRAL	6	55216162	Missense_Mutation	SNP	C	TCGA-VM-A8C9-01A-11D-A36O-08	29439297	55216162	115898905	7	37739											
A2ML1	144568	broad.mit.edu	37	12	9001419	9001419	+	Missense_Mutation	SNP	T	T	C	rs150488553	by1000genomes	TCGA-VM-A8C9-01A-11D-A36O-08	TCGA-VM-A8C9-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47654d66-7743-498f-b2e3-872d9100560a	8b9b4b1e-ae8d-4578-b7b6-7688526fc3fd	g.chr12:9001419T>C	ENST00000299698.7	+	16	2117	c.1937T>C	c.(1936-1938)aTt>aCt	p.I646T	A2ML1_ENST00000539547.1_Missense_Mutation_p.I155T	NM_001282424.1|NM_144670.4	NP_001269353.1|NP_653271	B3KVV6	B3KVV6_HUMAN	alpha-2-macroglobulin-like 1	490						extracellular space	endopeptidase inhibitor activity			NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						CAGCCCCTCATTGACCCAATG	0.527													9	125					0	0	1	0	0	C	9001419	T	C	9001419	3	2	494	1	0	0	0	0	1	0	0	0	5	1493	52	3	1999	3	A2ML1	12	9001419	Missense_Mutation	SNP	T	TCGA-VM-A8C9-01A-11D-A36O-08		9001419	124850476	8	37740											
XPO4	64328	broad.mit.edu	37	13	21361632	21361632	+	Silent	SNP	C	C	T			TCGA-VM-A8C9-01A-11D-A36O-08	TCGA-VM-A8C9-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47654d66-7743-498f-b2e3-872d9100560a	8b9b4b1e-ae8d-4578-b7b6-7688526fc3fd	g.chr13:21361632C>T	ENST00000400602.2	-	21	3188	c.3153G>A	c.(3151-3153)cgG>cgA	p.R1051R	XPO4_ENST00000255305.6_Silent_p.R1051R	NM_022459.4	NP_071904.4	Q9C0E2	XPO4_HUMAN	exportin 4	1051					protein transport	cytoplasm|nucleus	protein binding			breast(1)|endometrium(10)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	41		all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548)		TAAGAAAGTGCCGTGTTGCTA	0.458													3	57					0	0	1	0	0	T	21361632	C	T	21361632	2	4	494	1	0	0	0	0	0	0	0	1	17506	726	26	2		2	XPO4	13	21361632	Silent	SNP	C	TCGA-VM-A8C9-01A-11D-A36O-08		21361632	93808246	9	37741											
NEURL2	140825	broad.mit.edu	37	20	44517457	44517457	+	Silent	SNP	C	C	T			TCGA-VM-A8C9-01A-11D-A36O-08	TCGA-VM-A8C9-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47654d66-7743-498f-b2e3-872d9100560a	8b9b4b1e-ae8d-4578-b7b6-7688526fc3fd	g.chr20:44517457C>T	ENST00000372518.4	-	2	1093	c.798G>A	c.(796-798)cgG>cgA	p.R266R		NM_001278535.1|NM_080749.2	NP_001265464.1|NP_542787.1	Q9BR09	NEUL2_HUMAN	neuralized E3 ubiquitin protein ligase 2	266	SOCS box.				intracellular signal transduction					large_intestine(1)|lung(2)	3		Myeloproliferative disorder(115;0.0122)				CAATGGCCAGCCGGTGCACCA	0.552													3	39					0	0	1	0	0	T	44517457	C	T	44517457	2	4	494	1	0	0	0	0	0	0	0	1	10393	726	26	2		2	NEURL2	20	44517457	Silent	SNP	C	TCGA-VM-A8C9-01A-11D-A36O-08		44517457	18508063	10	37742											
MEGF6	1953	broad.mit.edu	37	1	3428675	3428675	+	Missense_Mutation	SNP	C	C	T	rs115175505	by1000genomes	TCGA-VM-A8CA-01A-11D-A36O-08	TCGA-VM-A8CA-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6799adf1-45ec-48c3-bd91-58227af39fc4	b63e7d90-775b-4bf0-ac26-60eeea646cda	g.chr1:3428675C>T	ENST00000356575.4	-	8	1097	c.871G>A	c.(871-873)Gca>Aca	p.A291T	MEGF6_ENST00000294599.4_Missense_Mutation_p.A186T	NM_001409.3	NP_001400.3	O75095	MEGF6_HUMAN	multiple EGF-like-domains 6	291	EGF-like 5; calcium-binding (Potential).					extracellular region	calcium ion binding			cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)		GCCAGCCCTGCGGCACATTCG	0.652													3	46					0	0	1	0	0	T	3428675	C	T	3428675	3	4	495	1	0	0	0	0	1	0	0	0	9512	768	27	1	3874	1	MEGF6	1	3428675	Missense_Mutation	SNP	C	TCGA-VM-A8CA-01A-11D-A36O-08		3428675	245821946	1	37743											
CNKSR1	10256	broad.mit.edu	37	1	26511516	26511517	+	Frame_Shift_Ins	INS	-	-	T			TCGA-VM-A8CA-01A-11D-A36O-08	TCGA-VM-A8CA-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6799adf1-45ec-48c3-bd91-58227af39fc4	b63e7d90-775b-4bf0-ac26-60eeea646cda	g.chr1:26511516_26511517insT	ENST00000531191.1	+	13	1380_1381	c.373_374insT	c.(373-375)cggfs	p.R125fs	CNKSR1_ENST00000374253.5_Frame_Shift_Ins_p.R390fs|CNKSR1_ENST00000361530.6_Frame_Shift_Ins_p.R383fs			Q969H4	CNKR1_HUMAN	connector enhancer of kinase suppressor of Ras 1	390	CRIC.				Rho protein signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cell cortex|cell-cell junction	protein binding, bridging			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	28		Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649)		CCTGGCGACCCGGCTGAGCCGC	0.693													2	4	---	---	---	---						T	26511517	-	T	26511516	7	5	495	1	0	1	1	0	0	0	0	0	3629	643	23	0	1201	0	CNKSR1	1	26511516	Frame_Shift_Ins	INS	-	TCGA-VM-A8CA-01A-11D-A36O-08	23082841	26511516	222739105	2	37744											
NRAS	4893	broad.mit.edu	37	1	115256529	115256529	+	Missense_Mutation	SNP	T	T	C	rs11554290		TCGA-VM-A8CA-01A-11D-A36O-08	TCGA-VM-A8CA-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6799adf1-45ec-48c3-bd91-58227af39fc4	b63e7d90-775b-4bf0-ac26-60eeea646cda	g.chr1:115256529T>C	ENST00000369535.4	-	3	435	c.182A>G	c.(181-183)cAa>cGa	p.Q61R		NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	61			Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	Golgi membrane|plasma membrane	GTP binding|GTPase activity	p.Q61R(817)|p.Q61L(175)|p.Q61P(23)|p.Q61K(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTACTCTTCTTGTCCAGCTGT	0.458	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50	Mis		"melanoma, MM, AML, thyroid"				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)			48	30					0	0	1	0	0	C	115256529	T	C	115256529	3	2	495	1	0	0	0	0	1	0	0	0	10688	1812	63	3	399	3	NRAS	1	115256529	Missense_Mutation	SNP	T	TCGA-VM-A8CA-01A-11D-A36O-08	88745013	115256529	133994092	3	37745											
VTCN1	79679	broad.mit.edu	37	1	117699297	117699297	+	Missense_Mutation	SNP	A	A	G			TCGA-VM-A8CA-01A-11D-A36O-08	TCGA-VM-A8CA-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6799adf1-45ec-48c3-bd91-58227af39fc4	b63e7d90-775b-4bf0-ac26-60eeea646cda	g.chr1:117699297A>G	ENST00000369458.3	-	3	422	c.344T>C	c.(343-345)tTg>tCg	p.L115S	VTCN1_ENST00000359008.4_Missense_Mutation_p.L118S|VTCN1_ENST00000463461.1_5'UTR|VTCN1_ENST00000328189.3_Intron|VTCN1_ENST00000539893.1_Missense_Mutation_p.L20S	NM_024626.3	NP_078902.2	Q7Z7D3	VTCN1_HUMAN	V-set domain containing T cell activation inhibitor 1	115	Ig-like V-type 1.					integral to membrane|plasma membrane				large_intestine(7)|lung(4)|upper_aerodigestive_tract(1)	12	Lung SC(450;0.225)	all_cancers(81;6.05e-06)|all_epithelial(167;5.59e-07)|all_lung(203;2.85e-06)|Lung NSC(69;2e-05)		Lung(183;0.0664)|LUSC - Lung squamous cell carcinoma(189;0.214)|Colorectal(144;0.23)		TTTCAGCCGCAAAGAGGCATT	0.453													27	17					0	0	1	0	0	G	117699297	A	G	117699297	3	3	495	1	0	0	0	0	1	0	0	0	17294	131	5	3	516	3	VTCN1	1	117699297	Missense_Mutation	SNP	A	TCGA-VM-A8CA-01A-11D-A36O-08	2442768	117699297	131551324	4	37746											
FLG	2312	broad.mit.edu	37	1	152275810	152275810	+	Missense_Mutation	SNP	G	G	A	rs150496930		TCGA-VM-A8CA-01A-11D-A36O-08	TCGA-VM-A8CA-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6799adf1-45ec-48c3-bd91-58227af39fc4	b63e7d90-775b-4bf0-ac26-60eeea646cda	g.chr1:152275810G>A	ENST00000368799.1	-	3	11587	c.11552C>T	c.(11551-11553)gCg>gTg	p.A3851V	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3851	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCTGGACCCCGCTGATTCACC	0.602									Ichthyosis				4	275					0	0	1	0	0	A	152275810	G	A	152275810	3	1	495	1	0	0	0	0	1	0	0	0	5955	1087	38	1	637	1	FLG	1	152275810	Missense_Mutation	SNP	G	TCGA-VM-A8CA-01A-11D-A36O-08	34576513	152275810	96974811	5	37747											
NPHS2	7827	broad.mit.edu	37	1	179526176	179526176	+	Missense_Mutation	SNP	C	C	T			TCGA-VM-A8CA-01A-11D-A36O-08	TCGA-VM-A8CA-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6799adf1-45ec-48c3-bd91-58227af39fc4	b63e7d90-775b-4bf0-ac26-60eeea646cda	g.chr1:179526176C>T	ENST00000367615.4	-	5	792	c.724G>A	c.(724-726)Gcc>Acc	p.A242T	NPHS2_ENST00000367616.4_Intron	NM_014625.2	NP_055440.1	Q9NP85	PODO_HUMAN	nephrosis 2, idiopathic, steroid-resistant (podocin)	242					excretion	integral to plasma membrane	protein binding			NS(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	20						GCATCTTGGGCGATGCTCTTC	0.368													3	48					0	0	1	0	0	T	179526176	C	T	179526176	3	4	495	1	0	0	0	0	1	0	0	0	10630	768	27	1	443	1	NPHS2	1	179526176	Missense_Mutation	SNP	C	TCGA-VM-A8CA-01A-11D-A36O-08	27250366	179526176	69724445	6	37748											
IL1RL2	8808	broad.mit.edu	37	2	102851427	102851427	+	Silent	SNP	G	G	A			TCGA-VM-A8CA-01A-11D-A36O-08	TCGA-VM-A8CA-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6799adf1-45ec-48c3-bd91-58227af39fc4	b63e7d90-775b-4bf0-ac26-60eeea646cda	g.chr2:102851427G>A	ENST00000264257.2	+	11	1494	c.1368G>A	c.(1366-1368)tcG>tcA	p.S456S	IL1RL2_ENST00000539491.1_Silent_p.S456S|IL1RL2_ENST00000481806.1_3'UTR|IL1RL2_ENST00000441515.2_Silent_p.S338S	NM_003854.2	NP_003845.2	Q9HB29	ILRL2_HUMAN	interleukin 1 receptor-like 2	456	TIR.				cellular defense response|innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|liver(2)|lung(8)|ovary(2)|prostate(1)	26						TCCCCGAATCGCTGGGCTTTG	0.493													4	58					0	0	1	0	0	A	102851427	G	A	102851427	2	1	495	1	0	0	0	0	0	0	0	1	7708	1074	38	1		1	IL1RL2	2	102851427	Silent	SNP	G	TCGA-VM-A8CA-01A-11D-A36O-08		102851427	140347946	7	37749											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-VM-A8CA-01A-11D-A36O-08	TCGA-VM-A8CA-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6799adf1-45ec-48c3-bd91-58227af39fc4	b63e7d90-775b-4bf0-ac26-60eeea646cda	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								28	49					0	0	1	0	0	T	209113112	C	T	209113112	3	4	495	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-VM-A8CA-01A-11D-A36O-08	106261685	209113112	34086261	8	37750											
UGT1A10	54575	broad.mit.edu	37	2	234545184	234545184	+	Missense_Mutation	SNP	T	T	G			TCGA-VM-A8CA-01A-11D-A36O-08	TCGA-VM-A8CA-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6799adf1-45ec-48c3-bd91-58227af39fc4	b63e7d90-775b-4bf0-ac26-60eeea646cda	g.chr2:234545184T>G	ENST00000344644.5	+	1	85	c.16T>G	c.(16-18)Tgg>Ggg	p.W6G	UGT1A1_ENST00000373450.4_Intron|UGT1A10_ENST00000373445.1_Missense_Mutation_p.W6G	NM_019075.2	NP_061948.1														endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(2)|skin(3)	32		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0334)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;1.96e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000468)|Lung(119;0.00381)|LUSC - Lung squamous cell carcinoma(224;0.008)		TCGCGCAGGGTGGACCAGCCC	0.567													8	55					0	0	1	0	0	G	234545184	T	G	234545184	3	3	495	1	0	0	0	0	1	0	0	0	17005	1696	59	5	18	5	UGT1A10	2	234545184	Missense_Mutation	SNP	T	TCGA-VM-A8CA-01A-11D-A36O-08	25432072	234545184	8654189	9	37751											
AGAP1	116987	broad.mit.edu	37	2	236659029	236659029	+	Silent	SNP	C	C	T			TCGA-VM-A8CA-01A-11D-A36O-08	TCGA-VM-A8CA-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6799adf1-45ec-48c3-bd91-58227af39fc4	b63e7d90-775b-4bf0-ac26-60eeea646cda	g.chr2:236659029C>T	ENST00000304032.8	+	6	1150	c.570C>T	c.(568-570)atC>atT	p.I190I	AGAP1_ENST00000428334.2_Silent_p.I29I|AGAP1_ENST00000336665.5_Silent_p.I190I|AGAP1_ENST00000409538.1_Silent_p.I455I|AGAP1_ENST00000409457.1_Silent_p.I190I	NM_001037131.2	NP_001032208.1	Q9UPQ3	AGAP1_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 1		Small GTPase-like.				protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm	ARF GTPase activator activity|GTP binding|zinc ion binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						CGAGGGTCATCGATGACGCCA	0.522													16	103					0	0	1	0	0	T	236659029	C	T	236659029	2	4	495	1	0	0	0	0	0	0	0	1	365	874	31	1		1	AGAP1	2	236659029	Silent	SNP	C	TCGA-VM-A8CA-01A-11D-A36O-08	2113845	236659029	6540344	10	37752											
PCDH10	57575	broad.mit.edu	37	4	134072866	134072866	+	Missense_Mutation	SNP	A	A	G			TCGA-VM-A8CA-01A-11D-A36O-08	TCGA-VM-A8CA-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6799adf1-45ec-48c3-bd91-58227af39fc4	b63e7d90-775b-4bf0-ac26-60eeea646cda	g.chr4:134072866A>G	ENST00000264360.5	+	1	2397	c.1571A>G	c.(1570-1572)tAc>tGc	p.Y524C		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10		Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.Y524C(1)		NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		GAGAACGGCTACTTGTACGCC	0.587													6	80					0	0	1	0	0	G	134072866	A	G	134072866	3	3	495	1	0	0	0	0	1	0	0	0	11554	391	14	3	1573	3	PCDH10	4	134072866	Missense_Mutation	SNP	A	TCGA-VM-A8CA-01A-11D-A36O-08		134072866	57081410	11	37753											
SIRT5	23408	broad.mit.edu	37	6	13612077	13612077	+	Nonsense_Mutation	SNP	G	G	T			TCGA-VM-A8CA-01A-11D-A36O-08	TCGA-VM-A8CA-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6799adf1-45ec-48c3-bd91-58227af39fc4	b63e7d90-775b-4bf0-ac26-60eeea646cda	g.chr6:13612077G>T	ENST00000606117.1	+	10	1209	c.913G>T	c.(913-915)Gaa>Taa	p.E305*	SIRT5_ENST00000359782.3_Nonsense_Mutation_p.E287*|SIRT5_ENST00000397350.2_Nonsense_Mutation_p.E197*	NM_012241.4	NP_036373.1	Q9NXA8	SIRT5_HUMAN	sirtuin 5	305	Deacetylase sirtuin-type.		E -> G (in dbSNP:rs34162626).		chromatin silencing|protein ADP-ribosylation|protein deacetylation	mitochondrial intermembrane space|mitochondrial matrix	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|NAD+ ADP-ribosyltransferase activity|NAD+ binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	11	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.117)	Epithelial(50;0.176)		Suramin(DB04786)	TGCCTGTCATGAAAATGAAAC	0.433													18	227					4.35082e-09	4.65436e-09	1	1	0	T	13612077	G	T	13612077	4	4	495	1	0	0	0	0	0	1	0	0	14396	1291	45	5	990	5	SIRT5	6	13612077	Nonsense_Mutation	SNP	G	TCGA-VM-A8CA-01A-11D-A36O-08		13612077	157502990	12	37754											
COL12A1	1303	broad.mit.edu	37	6	75898204	75898204	+	Missense_Mutation	SNP	G	G	T			TCGA-VM-A8CA-01A-11D-A36O-08	TCGA-VM-A8CA-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6799adf1-45ec-48c3-bd91-58227af39fc4	b63e7d90-775b-4bf0-ac26-60eeea646cda	g.chr6:75898204G>T	ENST00000322507.8	-	8	1180	c.871C>A	c.(871-873)Cct>Act	p.P291T	COL12A1_ENST00000345356.6_Intron|COL12A1_ENST00000483888.2_Missense_Mutation_p.P291T|COL12A1_ENST00000416123.2_Missense_Mutation_p.P291T	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	291	VWFA 1.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						TTCAGTGAAGGTGTGGAGGCA	0.403													15	59					3.27435e-08	3.42319e-08	1	1	0	T	75898204	G	T	75898204	3	4	495	1	0	0	0	0	1	0	0	0	3692	1261	44	5	8556	5	COL12A1	6	75898204	Missense_Mutation	SNP	G	TCGA-VM-A8CA-01A-11D-A36O-08	62286127	75898204	95216863	13	37755											
SLC4A2	6522	broad.mit.edu	37	7	150767818	150767818	+	Silent	SNP	C	C	T			TCGA-VM-A8CA-01A-11D-A36O-08	TCGA-VM-A8CA-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6799adf1-45ec-48c3-bd91-58227af39fc4	b63e7d90-775b-4bf0-ac26-60eeea646cda	g.chr7:150767818C>T	ENST00000485713.1	+	12	2609	c.1569C>T	c.(1567-1569)tgC>tgT	p.C523C	SLC4A2_ENST00000413384.2_Silent_p.C523C|SLC4A2_ENST00000310317.5_Silent_p.C441C|SLC4A2_ENST00000392826.2_Silent_p.C514C|SLC4A2_ENST00000461735.1_Silent_p.C509C	NM_001199692.1	NP_001186621.1	P04920	B3A2_HUMAN	solute carrier family 4 (anion exchanger), member 2	523					bicarbonate transport	integral to membrane|membrane fraction	inorganic anion exchanger activity			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(14)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CCCTAGGCTGCGTGGAGTTCC	0.667													10	16					0	0	1	0	0	T	150767818	C	T	150767818	2	4	495	1	0	0	0	0	0	0	0	1	14709	776	27	1		1	SLC4A2	7	150767818	Silent	SNP	C	TCGA-VM-A8CA-01A-11D-A36O-08		150767818	8370845	14	37756											
RORB	6096	broad.mit.edu	37	9	77280504	77280504	+	Silent	SNP	A	A	G			TCGA-VM-A8CA-01A-11D-A36O-08	TCGA-VM-A8CA-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6799adf1-45ec-48c3-bd91-58227af39fc4	b63e7d90-775b-4bf0-ac26-60eeea646cda	g.chr9:77280504A>G	ENST00000376896.3	+	7	1605	c.993A>G	c.(991-993)aaA>aaG	p.K331K	RORB_ENST00000396204.2_Silent_p.K342K	NM_006914.3	NP_008845.2	Q92753	RORB_HUMAN	RAR-related orphan receptor B		Ligand-binding (Potential).				eye photoreceptor cell development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|visual perception	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(2)|large_intestine(4)|lung(1)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	12						AAATGTTCAAAGCCTTAGGTA	0.378													3	31					0	0	1	0	0	G	77280504	A	G	77280504	2	3	495	1	0	0	0	0	0	0	0	1	13581	69	3	3		3	RORB	9	77280504	Silent	SNP	A	TCGA-VM-A8CA-01A-11D-A36O-08		77280504	63932927	15	37757											
ARHGAP12	94134	broad.mit.edu	37	10	32150341	32150341	+	Silent	SNP	T	T	C			TCGA-VM-A8CA-01A-11D-A36O-08	TCGA-VM-A8CA-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6799adf1-45ec-48c3-bd91-58227af39fc4	b63e7d90-775b-4bf0-ac26-60eeea646cda	g.chr10:32150341T>C	ENST00000375250.5	-	4	1171	c.930A>G	c.(928-930)caA>caG	p.Q310Q	ARHGAP12_ENST00000311380.4_Silent_p.Q310Q|ARHGAP12_ENST00000375245.4_Silent_p.Q310Q|ARHGAP12_ENST00000344936.2_Silent_p.Q310Q|ARHGAP12_ENST00000396144.4_Silent_p.Q310Q	NM_001270696.1|NM_001270698.1	NP_001257625.1|NP_001257627.1	Q8IWW6	RHG12_HUMAN	Rho GTPase activating protein 12	310					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(11)|lung(10)|skin(1)|urinary_tract(2)	31		Prostate(175;0.0199)				CCCCTGGATTTTGGAAATCTC	0.408													14	53					0	0	1	0	0	C	32150341	T	C	32150341	2	2	495	1	0	0	0	0	0	0	0	1	862	1838	64	3		3	ARHGAP12	10	32150341	Silent	SNP	T	TCGA-VM-A8CA-01A-11D-A36O-08		32150341	103384406	16	37758											
OR52A5	390054	broad.mit.edu	37	11	5153260	5153260	+	Missense_Mutation	SNP	C	C	T			TCGA-VM-A8CA-01A-11D-A36O-08	TCGA-VM-A8CA-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6799adf1-45ec-48c3-bd91-58227af39fc4	b63e7d90-775b-4bf0-ac26-60eeea646cda	g.chr11:5153260C>T	ENST00000307388.1	-	1	612	c.613G>A	c.(613-615)Gtt>Att	p.V205I		NM_001005160.2	NP_001005160.1	Q9H2C5	O52A5_HUMAN	olfactory receptor, family 52, subfamily A, member 5	205					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(18)|skin(3)	35		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)		GCAAAGGCAACAAATAGGCCA	0.423													38	64					0	0	1	0	0	T	5153260	C	T	5153260	3	4	495	1	0	0	0	0	1	0	0	0	11158	478	17	2	340	2	OR52A5	11	5153260	Missense_Mutation	SNP	C	TCGA-VM-A8CA-01A-11D-A36O-08		5153260	129853256	17	37759											
LRP5	4041	broad.mit.edu	37	11	68204389	68204389	+	Missense_Mutation	SNP	A	A	G			TCGA-VM-A8CA-01A-11D-A36O-08	TCGA-VM-A8CA-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6799adf1-45ec-48c3-bd91-58227af39fc4	b63e7d90-775b-4bf0-ac26-60eeea646cda	g.chr11:68204389A>G	ENST00000294304.7	+	19	4139	c.4033A>G	c.(4033-4035)Agc>Ggc	p.S1345G		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	1345	LDL-receptor class A 3.				adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CCGGTGTGCGAGCGGCCAGTG	0.642													25	46					0	0	1	0	0	G	68204389	A	G	68204389	3	3	495	1	0	0	0	0	1	0	0	0	9005	304	11	3	4107	3	LRP5	11	68204389	Missense_Mutation	SNP	A	TCGA-VM-A8CA-01A-11D-A36O-08	63051129	68204389	66802127	18	37760											
PHB2	11331	broad.mit.edu	37	12	7077605	7077605	+	Missense_Mutation	SNP	T	T	C			TCGA-VM-A8CA-01A-11D-A36O-08	TCGA-VM-A8CA-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6799adf1-45ec-48c3-bd91-58227af39fc4	b63e7d90-775b-4bf0-ac26-60eeea646cda	g.chr12:7077605T>C	ENST00000535923.1	-	4	727	c.446A>G	c.(445-447)aAt>aGt	p.N149S	PHB2_ENST00000399433.2_Missense_Mutation_p.N149S|PHB2_ENST00000542912.1_Missense_Mutation_p.N149S|PHB2_ENST00000546111.1_Intron|PHB2_ENST00000440277.1_Missense_Mutation_p.N149S	NM_001144831.1	NP_001138303.1	Q99623	PHB2_HUMAN	prohibitin 2	149					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial inner membrane|nucleus	estrogen receptor binding|receptor activity			ovary(2)|pancreas(1)	3						CTGTGAGGCATTGAACTTGGC	0.572													4	13					0	0	1	0	0	C	7077605	T	C	7077605	3	2	495	1	0	0	0	0	1	0	0	0	11863	1493	52	3	477	3	PHB2	12	7077605	Missense_Mutation	SNP	T	TCGA-VM-A8CA-01A-11D-A36O-08		7077605	126774290	19	37761											
DDX23	9416	broad.mit.edu	37	12	49227280	49227280	+	Missense_Mutation	SNP	C	C	T			TCGA-VM-A8CA-01A-11D-A36O-08	TCGA-VM-A8CA-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6799adf1-45ec-48c3-bd91-58227af39fc4	b63e7d90-775b-4bf0-ac26-60eeea646cda	g.chr12:49227280C>T	ENST00000308025.3	-	13	1662	c.1583G>A	c.(1582-1584)cGt>cAt	p.R528H		NM_004818.2	NP_004809.2	Q9BUQ8	DDX23_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 23	528	Helicase ATP-binding.					catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent RNA helicase activity|nucleic acid binding|protein binding			NS(1)|cervix(1)|kidney(4)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(3)	36						ATCAATCAAACGCCCAGGGGT	0.498													6	111					0	0	1	0	0	T	49227280	C	T	49227280	3	4	495	1	0	0	0	0	1	0	0	0	4373	536	19	1	899	1	DDX23	12	49227280	Missense_Mutation	SNP	C	TCGA-VM-A8CA-01A-11D-A36O-08	42149675	49227280	84624615	20	37762											
KRT84	3890	broad.mit.edu	37	12	52777396	52777396	+	Missense_Mutation	SNP	C	C	T			TCGA-VM-A8CA-01A-11D-A36O-08	TCGA-VM-A8CA-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6799adf1-45ec-48c3-bd91-58227af39fc4	b63e7d90-775b-4bf0-ac26-60eeea646cda	g.chr12:52777396C>T	ENST00000257951.3	-	2	799	c.733G>A	c.(733-735)Gtc>Atc	p.V245I	RP3-416H24.4_ENST00000547174.1_RNA	NM_033045.3	NP_149034.2	Q9NSB2	KRT84_HUMAN	keratin 84	245	Coil 1B.|Rod.					keratin filament	structural constituent of epidermis			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(10)|skin(3)	27	all_hematologic(5;0.12)			BRCA - Breast invasive adenocarcinoma(357;0.189)		CCCTCTAGGACATCCTGCAGG	0.582													23	34					0	0	1	0	0	T	52777396	C	T	52777396	3	4	495	1	0	0	0	0	1	0	0	0	8541	478	17	2	1101	2	KRT84	12	52777396	Missense_Mutation	SNP	C	TCGA-VM-A8CA-01A-11D-A36O-08	3550116	52777396	81074499	21	37763											
MAP1A	4130	broad.mit.edu	37	15	43817305	43817305	+	Missense_Mutation	SNP	G	G	A			TCGA-VM-A8CA-01A-11D-A36O-08	TCGA-VM-A8CA-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6799adf1-45ec-48c3-bd91-58227af39fc4	b63e7d90-775b-4bf0-ac26-60eeea646cda	g.chr15:43817305G>A	ENST00000382031.1	+	5	4379	c.4348G>A	c.(4348-4350)Gtc>Atc	p.V1450I	MAP1A_ENST00000399453.1_Missense_Mutation_p.V1212I|MAP1A_ENST00000300231.5_Missense_Mutation_p.V1212I			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	1212						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	CTCCCTGGATGTCTCTTCTAA	0.527													11	45					0	0	1	0	0	A	43817305	G	A	43817305	3	1	495	1	0	0	0	0	1	0	0	0	9277	1377	48	2	3636	2	MAP1A	15	43817305	Missense_Mutation	SNP	G	TCGA-VM-A8CA-01A-11D-A36O-08		43817305	58714087	22	37764											
TMC3	342125	broad.mit.edu	37	15	81627158	81627158	+	Missense_Mutation	SNP	C	C	T			TCGA-VM-A8CA-01A-11D-A36O-08	TCGA-VM-A8CA-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6799adf1-45ec-48c3-bd91-58227af39fc4	b63e7d90-775b-4bf0-ac26-60eeea646cda	g.chr15:81627158C>T	ENST00000558726.1	-	21	2500	c.2365G>A	c.(2365-2367)Gca>Aca	p.A789T	RP11-761I4.3_ENST00000560973.1_RNA|RP11-761I4.3_ENST00000560851.1_RNA|TMC3_ENST00000359440.5_Missense_Mutation_p.A788T|RP11-761I4.3_ENST00000559781.1_RNA			Q7Z5M5	TMC3_HUMAN	transmembrane channel-like 3	788						integral to membrane				autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						ATGGACTGTGCGACTGTCTCT	0.607													10	41					0	0	1	0	0	T	81627158	C	T	81627158	3	4	495	1	0	0	0	0	1	0	0	0	16046	768	27	1	948	1	TMC3	15	81627158	Missense_Mutation	SNP	C	TCGA-VM-A8CA-01A-11D-A36O-08	37809853	81627158	20904234	23	37765											
TAOK2	9344	broad.mit.edu	37	16	29999002	29999002	+	Missense_Mutation	SNP	C	C	T			TCGA-VM-A8CA-01A-11D-A36O-08	TCGA-VM-A8CA-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6799adf1-45ec-48c3-bd91-58227af39fc4	b63e7d90-775b-4bf0-ac26-60eeea646cda	g.chr16:29999002C>T	ENST00000308893.4	+	16	4452	c.3409C>T	c.(3409-3411)Ccc>Tcc	p.P1137S	TAOK2_ENST00000416441.2_Missense_Mutation_p.P964S|TAOK2_ENST00000279394.3_Intron|TAOK2_ENST00000543033.1_Missense_Mutation_p.P1024S	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	1137					actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						GCGGCGTAATCCCCGCACCAC	0.652													22	138					0	0	1	0	0	T	29999002	C	T	29999002	3	4	495	1	0	0	0	0	1	0	0	0	15605	855	30	2	3467	2	TAOK2	16	29999002	Missense_Mutation	SNP	C	TCGA-VM-A8CA-01A-11D-A36O-08		29999002	60355751	24	37766											
GLG1	2734	broad.mit.edu	37	16	74487225	74487225	+	Frame_Shift_Del	DEL	G	G	-			TCGA-VM-A8CA-01A-11D-A36O-08	TCGA-VM-A8CA-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6799adf1-45ec-48c3-bd91-58227af39fc4	b63e7d90-775b-4bf0-ac26-60eeea646cda	g.chr16:74487225delG	ENST00000422840.2	-	26	3379	c.3380delC	c.(3379-3381)ccafs	p.P1127fs	GLG1_ENST00000205061.5_Frame_Shift_Del_p.P1127fs|GLG1_ENST00000447066.2_Frame_Shift_Del_p.P1116fs	NM_001145667.1	NP_001139139.1	Q92896	GSLG1_HUMAN	golgi glycoprotein 1	1127						Golgi membrane|integral to membrane	receptor binding			breast(2)|cervix(2)|endometrium(6)|kidney(8)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(1)	57						GCCATCTGCTGGGGCCACCTA	0.468													12	23	---	---	---	---						-	74487225	G	-	74487225	7	5	495	1	0	1	0	1	0	0	0	0	6478	1348	47	0	243	0	GLG1	16	74487225	Frame_Shift_Del	DEL	G	TCGA-VM-A8CA-01A-11D-A36O-08	44488223	74487225	15867528	25	37767											
MLKL	197259	broad.mit.edu	37	16	74709277	74709277	+	Missense_Mutation	SNP	C	C	T			TCGA-VM-A8CA-01A-11D-A36O-08	TCGA-VM-A8CA-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6799adf1-45ec-48c3-bd91-58227af39fc4	b63e7d90-775b-4bf0-ac26-60eeea646cda	g.chr16:74709277C>T	ENST00000308807.7	-	9	1679	c.1216G>A	c.(1216-1218)Gcc>Acc	p.A406T	MLKL_ENST00000306247.7_Silent_p.S187S	NM_152649.2	NP_689862.1	Q8NB16	MLKL_HUMAN	mixed lineage kinase domain-like	406	Protein kinase.						ATP binding|protein binding|protein kinase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(6)|skin(1)|stomach(2)	19						TCTCCAGTGGCGATTTCCCAG	0.493													4	79					0	0	1	0	0	T	74709277	C	T	74709277	3	4	495	1	0	0	0	0	1	0	0	0	9667	768	27	1	242	1	MLKL	16	74709277	Missense_Mutation	SNP	C	TCGA-VM-A8CA-01A-11D-A36O-08	222052	74709277	15645476	26	37768											
POLR2A	5430	broad.mit.edu	37	17	7404927	7404927	+	Missense_Mutation	SNP	G	G	A			TCGA-VM-A8CA-01A-11D-A36O-08	TCGA-VM-A8CA-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6799adf1-45ec-48c3-bd91-58227af39fc4	b63e7d90-775b-4bf0-ac26-60eeea646cda	g.chr17:7404927G>A	ENST00000322644.6	+	14	2627	c.2228G>A	c.(2227-2229)cGc>cAc	p.R743H		NM_000937.4	NP_000928	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	743					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				CAGGTGAACCGCATTCTTAAC	0.522													3	70					0	0	1	0	0	A	7404927	G	A	7404927	3	1	495	1	0	0	0	0	1	0	0	0	12262	1087	38	1	2282	1	POLR2A	17	7404927	Missense_Mutation	SNP	G	TCGA-VM-A8CA-01A-11D-A36O-08		7404927	73790283	27	37769											
CD209	30835	broad.mit.edu	37	19	7809881	7809881	+	Silent	SNP	G	G	A			TCGA-VM-A8CA-01A-11D-A36O-08	TCGA-VM-A8CA-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6799adf1-45ec-48c3-bd91-58227af39fc4	b63e7d90-775b-4bf0-ac26-60eeea646cda	g.chr19:7809881G>A	ENST00000315599.7	-	5	868	c.846C>T	c.(844-846)acC>acT	p.T282T	CD209_ENST00000204801.8_Silent_p.T238T|CD209_ENST00000601256.1_Silent_p.T258T|CD209_ENST00000593821.1_Silent_p.T146T|CD209_ENST00000602261.1_Silent_p.T190T|CD209_ENST00000394161.5_Intron|CD209_ENST00000354397.6_Silent_p.T282T|CD209_ENST00000593660.1_Silent_p.T212T|CD209_ENST00000601951.1_Silent_p.T258T|CD209_ENST00000301357.8_Silent_p.T146T|CD209_ENST00000394173.4_Silent_p.T121T|CD209_ENST00000315591.8_Silent_p.T258T	NM_001144895.1|NM_001144897.1|NM_021155.3	NP_001138367.1|NP_001138369.1|NP_066978.1	Q9NNX6	CD209_HUMAN	CD209 molecule	282	C-type lectin.				cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to membrane|plasma membrane	mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding	p.T282T(1)		endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						CTTTGCAGGCGGTGATGGAGT	0.582													3	47					0	0	1	0	0	A	7809881	G	A	7809881	2	1	495	1	0	0	0	0	0	0	0	1	3006	1103	39	1		1	CD209	19	7809881	Silent	SNP	G	TCGA-VM-A8CA-01A-11D-A36O-08		7809881	51319102	28	37770											
JAK3	3718	broad.mit.edu	37	19	17941029	17941029	+	Splice_Site	DEL	T	T	-			TCGA-VM-A8CA-01A-11D-A36O-08	TCGA-VM-A8CA-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6799adf1-45ec-48c3-bd91-58227af39fc4	b63e7d90-775b-4bf0-ac26-60eeea646cda	g.chr19:17941029delT	ENST00000458235.1	-	23	3196		c.e23-2		JAK3_ENST00000527670.1_Splice_Site|JAK3_ENST00000534444.1_Splice_Site	NM_000215.3	NP_000206.2	P52333	JAK3_HUMAN	Janus kinase 3						B cell differentiation|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of dendritic cell cytokine production|negative regulation of FasL biosynthetic process|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of T-helper 1 cell differentiation|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9|T cell homeostasis	cytoskeleton|cytosol|endomembrane system|membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147						CAGGAACTCCTGGAGCCAAGG	0.701		2	Mis		"acute megakaryocytic leukemia, ETP ALL"								2	4	---	---	---	---						-	17941029	T	-	17941029	8	5	495	1	0	1	0	1	0	0	1	0	7983	1594	55	0	287	0	JAK3	19	17941029	Splice_Site	DEL	T	TCGA-VM-A8CA-01A-11D-A36O-08	10131148	17941029	41187954	29	37771											
ZNF614	80110	broad.mit.edu	37	19	52519679	52519679	+	Missense_Mutation	SNP	C	C	T	rs115005123	by1000genomes	TCGA-VM-A8CA-01A-11D-A36O-08	TCGA-VM-A8CA-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6799adf1-45ec-48c3-bd91-58227af39fc4	b63e7d90-775b-4bf0-ac26-60eeea646cda	g.chr19:52519679C>T	ENST00000270649.6	-	5	1716	c.1172G>A	c.(1171-1173)cGc>cAc	p.R391H	ZNF614_ENST00000356322.6_Intron	NM_025040.3	NP_079316.2	Q8N883	ZN614_HUMAN	zinc finger protein 614	391					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	24		all_neural(266;0.0505)		GBM - Glioblastoma multiforme(134;0.00513)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		TGTGTGGGAGCGCTGATGTAC	0.443													43	100					0	0	1	0	0	T	52519679	C	T	52519679	3	4	495	1	0	0	0	0	1	0	0	0	18096	768	27	1	589	1	ZNF614	19	52519679	Missense_Mutation	SNP	C	TCGA-VM-A8CA-01A-11D-A36O-08	34578650	52519679	6609304	30	37772											
SETD4	54093	broad.mit.edu	37	21	37412909	37412909	+	Missense_Mutation	SNP	G	G	T			TCGA-VM-A8CA-01A-11D-A36O-08	TCGA-VM-A8CA-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6799adf1-45ec-48c3-bd91-58227af39fc4	b63e7d90-775b-4bf0-ac26-60eeea646cda	g.chr21:37412909G>T	ENST00000399215.1	-	8	2400	c.1028C>A	c.(1027-1029)aCa>aAa	p.T343K	SETD4_ENST00000399212.1_Missense_Mutation_p.T319K|AP000688.1_ENST00000600312.1_Intron|SETD4_ENST00000481477.1_5'UTR|SETD4_ENST00000332131.4_Missense_Mutation_p.T343K			Q9NVD3	SETD4_HUMAN	SET domain containing 4	343				EILVKYLPSTDKQMDKKISILKDHGYIENLTFGWDGPSWRL LTALKLLCLEAEKFTCWKKVLLGEVISDTNEKTSLDIAQKI CYYFIEETNAVLQKVSHMKDEKEALINQLTLVESLWTEELK ILRASAETLHSLQTAFT -> GWNQLCS (in Ref. 5; AAH02898).						autonomic_ganglia(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)	15						CTTAAGGGCTGTGAGTAGCCT	0.388													11	168					5.50884e-06	5.63126e-06	1	1	0	T	37412909	G	T	37412909	3	4	495	1	0	0	0	0	1	0	0	0	14187	1377	48	5	306	5	SETD4	21	37412909	Missense_Mutation	SNP	G	TCGA-VM-A8CA-01A-11D-A36O-08		37412909	10716986	31	37773											
APOBEC3F	200316	broad.mit.edu	37	22	39445579	39445579	+	Missense_Mutation	SNP	G	G	A			TCGA-VM-A8CA-01A-11D-A36O-08	TCGA-VM-A8CA-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6799adf1-45ec-48c3-bd91-58227af39fc4	b63e7d90-775b-4bf0-ac26-60eeea646cda	g.chr22:39445579G>A	ENST00000308521.5	+	5	1073	c.716G>A	c.(715-717)cGa>cAa	p.R239Q	APOBEC3G_ENST00000452957.2_Intron	NM_145298.5	NP_660341.2	Q9HC16	ABC3G_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3F	243					base conversion or substitution editing|DNA cytosine deamination|innate immune response|interspecies interaction between organisms|negative regulation of retroviral genome replication|negative regulation of transposition|positive regulation of defense response to virus by host|response to virus|viral reproduction	apolipoprotein B mRNA editing enzyme complex|cytosol|mitochondrion	cytidine deaminase activity|dCTP deaminase activity|protein homodimerization activity|RNA binding|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|skin(2)	16	Melanoma(58;0.04)					GGCGTCTTCCGAAACCAGGTA	0.512													17	80					0	0	1	0	0	A	39445579	G	A	39445579	3	1	495	1	0	0	0	0	1	0	0	0	790	1058	37	1	873	1	APOBEC3F	22	39445579	Missense_Mutation	SNP	G	TCGA-VM-A8CA-01A-11D-A36O-08		39445579	11858987	32	37774											
FAM47A	158724	broad.mit.edu	37	X	34149054	34149054	+	Missense_Mutation	SNP	G	G	A			TCGA-VM-A8CA-01A-11D-A36O-08	TCGA-VM-A8CA-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6799adf1-45ec-48c3-bd91-58227af39fc4	b63e7d90-775b-4bf0-ac26-60eeea646cda	g.chrX:34149054G>A	ENST00000346193.3	-	1	1393	c.1342C>T	c.(1342-1344)Cgg>Tgg	p.R448W		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	448										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						TTCTTCACCCGGGCCTCACAA	0.562													17	23					0	0	1	0	0	A	34149054	G	A	34149054	3	1	495	1	0	0	0	0	1	0	0	0	5605	1115	39	1	1037	1	FAM47A	23	34149054	Missense_Mutation	SNP	G	TCGA-VM-A8CA-01A-11D-A36O-08		34149054	121121506	33	37775											
PADI1	29943	broad.mit.edu	37	1	17548858	17548858	+	Missense_Mutation	SNP	C	C	T	rs142259163		TCGA-VM-A8CB-01A-11D-A36O-08	TCGA-VM-A8CB-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25c0282-4c24-40bd-afdf-7a1e22a2e010	501724d7-f323-41b0-a4d2-41dfd3e141db	g.chr1:17548858C>T	ENST00000375471.4	+	2	258	c.166C>T	c.(166-168)Cgc>Tgc	p.R56C		NM_013358.2	NP_037490.2	Q9ULC6	PADI1_HUMAN	peptidyl arginine deiminase, type I	56					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity	p.R56C(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	28		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00522)|BRCA - Breast invasive adenocarcinoma(304;1.3e-05)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(196;0.0069)|READ - Rectum adenocarcinoma(331;0.0681)|Lung(427;0.197)	L-Citrulline(DB00155)	GGTCTACAACCGCACACGTGT	0.552													7	62					0	0	1	0	0	T	17548858	C	T	17548858	3	4	496	1	0	0	0	0	1	0	0	0	11424	652	23	1	172	1	PADI1	1	17548858	Missense_Mutation	SNP	C	TCGA-VM-A8CB-01A-11D-A36O-08		17548858	231701763	1	37776											
FUBP1	8880	broad.mit.edu	37	1	78425906	78425907	+	Frame_Shift_Del	DEL	TG	TG	-	rs145571406		TCGA-VM-A8CB-01A-11D-A36O-08	TCGA-VM-A8CB-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25c0282-4c24-40bd-afdf-7a1e22a2e010	501724d7-f323-41b0-a4d2-41dfd3e141db	g.chr1:78425906_78425907delTG	ENST00000370767.1	-	16	1625_1626	c.1538_1539delCA	c.(1537-1539)gcafs	p.A513fs	FUBP1_ENST00000370768.2_Frame_Shift_Del_p.A513fs|FUBP1_ENST00000436586.2_Frame_Shift_Del_p.A534fs			Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1	513	Pro-rich.				transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						AGTGTGGATATGCATTTCCCCA	0.431			"F, N"		oligodendroglioma								23	8	---	---	---	---						-	78425907	TG	-	78425906	7	5	496	1	0	1	0	1	0	0	0	0	6127	1451	51	0	415	0	FUBP1	1	78425906	Frame_Shift_Del	DEL	TG	TCGA-VM-A8CB-01A-11D-A36O-08	60877048	78425906	170824715	2	37777											
TAF1B	9014	broad.mit.edu	37	2	9989570	9989571	+	Frame_Shift_Ins	INS	-	-	A			TCGA-VM-A8CB-01A-11D-A36O-08	TCGA-VM-A8CB-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25c0282-4c24-40bd-afdf-7a1e22a2e010	501724d7-f323-41b0-a4d2-41dfd3e141db	g.chr2:9989570_9989571insA	ENST00000263663.5	+	3	374_375	c.186_187insA	c.(187-189)aaafs	p.K63fs	TAF1B_ENST00000396242.3_5'UTR|TAF1B_ENST00000402170.1_3'UTR	NM_005680.2	NP_005671	Q53T94	TAF1B_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, B, 63kDa	63					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity	p.K63fs*1(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	14	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					ACCGGGGGCTTAAAAAAAAAAA	0.337													20	44	---	---	---	---						A	9989571	-	A	9989570	7	5	496	1	0	1	1	0	0	0	0	0	15577	1741	61	0	196	0	TAF1B	2	9989570	Frame_Shift_Ins	INS	-	TCGA-VM-A8CB-01A-11D-A36O-08		9989570	233209803	3	37778											
RANBP2	5903	broad.mit.edu	37	2	109380084	109380084	+	Missense_Mutation	SNP	C	C	A			TCGA-VM-A8CB-01A-11D-A36O-08	TCGA-VM-A8CB-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25c0282-4c24-40bd-afdf-7a1e22a2e010	501724d7-f323-41b0-a4d2-41dfd3e141db	g.chr2:109380084C>A	ENST00000283195.6	+	20	3215	c.3089C>A	c.(3088-3090)cCt>cAt	p.P1030H		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	1030					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						CAGCCAACTCCTTTTAAATTT	0.423													4	175					0.00909568	0.00909568	1	1	0	A	109380084	C	A	109380084	3	1	496	1	0	0	0	0	1	0	0	0	13080	681	24	4	3167	4	RANBP2	2	109380084	Missense_Mutation	SNP	C	TCGA-VM-A8CB-01A-11D-A36O-08	99390514	109380084	133819289	4	37779											
CXCR4	7852	broad.mit.edu	37	2	136873410	136873410	+	Missense_Mutation	SNP	G	G	A			TCGA-VM-A8CB-01A-11D-A36O-08	TCGA-VM-A8CB-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25c0282-4c24-40bd-afdf-7a1e22a2e010	501724d7-f323-41b0-a4d2-41dfd3e141db	g.chr2:136873410G>A	ENST00000409817.1	-	1	403	c.100C>T	c.(100-102)Cgt>Tgt	p.R34C	CXCR4_ENST00000241393.3_Missense_Mutation_p.R30C|CXCR4_ENST00000466288.1_5'UTR	NM_001008540.1	NP_001008540.1	P61073	CXCR4_HUMAN	chemokine (C-X-C motif) receptor 4	30					activation of MAPK activity|apoptosis|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|entry into host cell|inflammatory response|initiation of viral infection|regulation of chemotaxis|response to hypoxia|response to virus	cell leading edge|cell surface|cytoplasmic membrane-bounded vesicle|integral to membrane|plasma membrane	actin binding|C-X-C chemokine receptor activity|coreceptor activity|myosin light chain binding|ubiquitin binding|ubiquitin protein ligase binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.155)	Framycetin(DB00452)	TTTTCTTCACGGAAACAGGGT	0.433													56	40					0	0	1	0	0	A	136873410	G	A	136873410	3	1	496	1	0	0	0	0	1	0	0	0	4116	1116	39	1	974	1	CXCR4	2	136873410	Missense_Mutation	SNP	G	TCGA-VM-A8CB-01A-11D-A36O-08	27493326	136873410	106325963	5	37780											
ITGA4	3676	broad.mit.edu	37	2	182347308	182347308	+	Missense_Mutation	SNP	T	T	C			TCGA-VM-A8CB-01A-11D-A36O-08	TCGA-VM-A8CB-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25c0282-4c24-40bd-afdf-7a1e22a2e010	501724d7-f323-41b0-a4d2-41dfd3e141db	g.chr2:182347308T>C	ENST00000397033.2	+	9	1401	c.971T>C	c.(970-972)cTc>cCc	p.L324P		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	324					blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	TCAGATCTGCTCGTGGGAGCA	0.512													11	206					0	0	1	0	0	C	182347308	T	C	182347308	3	2	496	1	0	0	0	0	1	0	0	0	7922	1551	54	3	1005	3	ITGA4	2	182347308	Missense_Mutation	SNP	T	TCGA-VM-A8CB-01A-11D-A36O-08	45473898	182347308	60852065	6	37781											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-VM-A8CB-01A-11D-A36O-08	TCGA-VM-A8CB-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25c0282-4c24-40bd-afdf-7a1e22a2e010	501724d7-f323-41b0-a4d2-41dfd3e141db	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								33	55					0	0	1	0	0	T	209113112	C	T	209113112	3	4	496	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-VM-A8CB-01A-11D-A36O-08	26765804	209113112	34086261	7	37782											
MLPH	79083	broad.mit.edu	37	2	238419718	238419718	+	Missense_Mutation	SNP	C	C	T			TCGA-VM-A8CB-01A-11D-A36O-08	TCGA-VM-A8CB-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25c0282-4c24-40bd-afdf-7a1e22a2e010	501724d7-f323-41b0-a4d2-41dfd3e141db	g.chr2:238419718C>T	ENST00000264605.3	+	4	713	c.419C>T	c.(418-420)tCc>tTc	p.S140F	MLPH_ENST00000409373.1_Missense_Mutation_p.S140F|MLPH_ENST00000410032.1_Missense_Mutation_p.S140F|MLPH_ENST00000338530.4_Missense_Mutation_p.S140F|MLPH_ENST00000468178.1_3'UTR|MLPH_ENST00000445024.2_Missense_Mutation_p.S140F	NM_024101.5	NP_077006.1	Q9BV36	MELPH_HUMAN	melanophilin	140							metal ion binding			NS(1)|breast(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(11)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1)	25		Breast(86;0.000381)|Renal(207;0.000966)|Ovarian(221;0.0695)|all_hematologic(139;0.095)|all_lung(227;0.17)|Melanoma(123;0.203)		Epithelial(121;1.17e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.02e-10)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.15e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000439)|Lung(119;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0316)		GTCATCCGGTCCCTCCACGGG	0.532													31	208					0	0	1	0	0	T	238419718	C	T	238419718	3	4	496	1	0	0	0	0	1	0	0	0	9681	855	30	2	429	2	MLPH	2	238419718	Missense_Mutation	SNP	C	TCGA-VM-A8CB-01A-11D-A36O-08	29306606	238419718	4779655	8	37783											
SLC4A7	9497	broad.mit.edu	37	3	27427493	27427493	+	Missense_Mutation	SNP	G	G	A			TCGA-VM-A8CB-01A-11D-A36O-08	TCGA-VM-A8CB-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25c0282-4c24-40bd-afdf-7a1e22a2e010	501724d7-f323-41b0-a4d2-41dfd3e141db	g.chr3:27427493G>A	ENST00000295736.5	-	23	3425	c.3355C>T	c.(3355-3357)Cgc>Tgc	p.R1119C	SLC4A7_ENST00000437179.1_Missense_Mutation_p.R1000C|SLC4A7_ENST00000454389.1_Missense_Mutation_p.R1128C|SLC4A7_ENST00000428386.1_Missense_Mutation_p.R995C|SLC4A7_ENST00000388777.4_Missense_Mutation_p.R669C|SLC4A7_ENST00000440156.1_Missense_Mutation_p.R1115C|SLC4A7_ENST00000425128.2_3'UTR|SLC4A7_ENST00000435667.2_Missense_Mutation_p.R1004C|SLC4A7_ENST00000446700.1_Missense_Mutation_p.R1111C|SLC4A7_ENST00000455077.1_Missense_Mutation_p.R1000C|SLC4A7_ENST00000445684.1_Missense_Mutation_p.R1115C	NM_003615.4	NP_003606.3	Q9Y6M7	S4A7_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 7	1119						apical plasma membrane|basolateral plasma membrane|integral to membrane|stereocilium	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity	p.R1119C(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38						ATGAGTTTGCGCACAAACACT	0.328													4	170					0	0	1	0	0	A	27427493	G	A	27427493	3	1	496	1	0	0	0	0	1	0	0	0	14713	1087	38	1	301	1	SLC4A7	3	27427493	Missense_Mutation	SNP	G	TCGA-VM-A8CB-01A-11D-A36O-08		27427493	170594937	9	37784											
ARHGAP31	57514	broad.mit.edu	37	3	119133649	119133649	+	Missense_Mutation	SNP	A	A	G			TCGA-VM-A8CB-01A-11D-A36O-08	TCGA-VM-A8CB-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25c0282-4c24-40bd-afdf-7a1e22a2e010	501724d7-f323-41b0-a4d2-41dfd3e141db	g.chr3:119133649A>G	ENST00000264245.4	+	12	3405	c.2873A>G	c.(2872-2874)aAa>aGa	p.K958R		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	958					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						CTAGATAGCAAACCCACGGTT	0.567													88	120					0	0	1	0	0	G	119133649	A	G	119133649	3	3	496	1	0	0	0	0	1	0	0	0	877	14	1	3	2919	3	ARHGAP31	3	119133649	Missense_Mutation	SNP	A	TCGA-VM-A8CB-01A-11D-A36O-08	91706156	119133649	78888781	10	37785											
RSRC1	51319	broad.mit.edu	37	3	157920909	157920909	+	Missense_Mutation	SNP	G	G	C			TCGA-VM-A8CB-01A-11D-A36O-08	TCGA-VM-A8CB-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25c0282-4c24-40bd-afdf-7a1e22a2e010	501724d7-f323-41b0-a4d2-41dfd3e141db	g.chr3:157920909G>C	ENST00000295930.3	+	4	531	c.369G>C	c.(367-369)agG>agC	p.R123S	RSRC1_ENST00000312179.6_Intron|RSRC1_ENST00000464171.1_Intron|RSRC1_ENST00000480820.1_Missense_Mutation_p.R123S|RSRC1_ENST00000475278.2_Missense_Mutation_p.R123S	NM_001271838.1|NM_016625.2	NP_001258767.1|NP_057709.2	Q96IZ7	RSRC1_HUMAN	arginine/serine-rich coiled-coil 1	123	Arg/Ser-rich.				nucleocytoplasmic transport	cytoplasm|nuclear speck	protein binding			cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|upper_aerodigestive_tract(1)	18			Lung(72;0.00416)|LUSC - Lung squamous cell carcinoma(72;0.00575)			GCAGTGAAAGGTCCAGTCACA	0.433													8	18					0	0	1	0	0	C	157920909	G	C	157920909	3	2	496	1	0	0	0	0	1	0	0	0	13766	1252	44	5	379	5	RSRC1	3	157920909	Missense_Mutation	SNP	G	TCGA-VM-A8CB-01A-11D-A36O-08	38787260	157920909	40101521	11	37786											
GPR125	166647	broad.mit.edu	37	4	22390464	22390464	+	Missense_Mutation	SNP	T	T	C			TCGA-VM-A8CB-01A-11D-A36O-08	TCGA-VM-A8CB-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25c0282-4c24-40bd-afdf-7a1e22a2e010	501724d7-f323-41b0-a4d2-41dfd3e141db	g.chr4:22390464T>C	ENST00000334304.5	-	19	3099	c.2830A>G	c.(2830-2832)Aga>Gga	p.R944G	GPR125_ENST00000282943.5_5'UTR	NM_145290.3	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	944					neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				TCAGGGTGTCTTTTCAACTGA	0.458													66	82					0	0	1	0	0	C	22390464	T	C	22390464	3	2	496	1	0	0	0	0	1	0	0	0	6679	1617	56	3	1139	3	GPR125	4	22390464	Missense_Mutation	SNP	T	TCGA-VM-A8CB-01A-11D-A36O-08		22390464	168763812	12	37787											
KIF6	221458	broad.mit.edu	37	6	39507890	39507890	+	Missense_Mutation	SNP	G	G	A			TCGA-VM-A8CB-01A-11D-A36O-08	TCGA-VM-A8CB-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25c0282-4c24-40bd-afdf-7a1e22a2e010	501724d7-f323-41b0-a4d2-41dfd3e141db	g.chr6:39507890G>A	ENST00000287152.7	-	13	1628	c.1534C>T	c.(1534-1536)Cgc>Tgc	p.R512C	KIF6_ENST00000373213.4_Missense_Mutation_p.R351C|KIF6_ENST00000538893.1_Intron|KIF6_ENST00000373215.3_Missense_Mutation_p.R512C|KIF6_ENST00000373216.3_Missense_Mutation_p.R512C	NM_145027.4	NP_659464.3	Q6ZMV9	KIF6_HUMAN	kinesin family member 6	512			R -> H (in dbSNP:rs2273063).		microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						TTTCCTAGGCGGAAGGGTGGG	0.498													72	108					0	0	1	0	0	A	39507890	G	A	39507890	3	1	496	1	0	0	0	0	1	0	0	0	8350	1116	39	1	954	1	KIF6	6	39507890	Missense_Mutation	SNP	G	TCGA-VM-A8CB-01A-11D-A36O-08		39507890	131607177	13	37788											
CYP39A1	51302	broad.mit.edu	37	6	46555791	46555791	+	Missense_Mutation	SNP	C	C	T			TCGA-VM-A8CB-01A-11D-A36O-08	TCGA-VM-A8CB-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25c0282-4c24-40bd-afdf-7a1e22a2e010	501724d7-f323-41b0-a4d2-41dfd3e141db	g.chr6:46555791C>T	ENST00000275016.2	-	9	1344	c.1141G>A	c.(1141-1143)Gag>Aag	p.E381K		NM_016593.3	NP_057677.2	Q9NYL5	CP39A_HUMAN	cytochrome P450, family 39, subfamily A, polypeptide 1	381					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						AATTCAGGCTCAGGAAAATAC	0.299													30	44					0	0	1	0	0	T	46555791	C	T	46555791	3	4	496	1	0	0	0	0	1	0	0	0	4200	835	29	2	284	2	CYP39A1	6	46555791	Missense_Mutation	SNP	C	TCGA-VM-A8CB-01A-11D-A36O-08	7047901	46555791	124559276	14	37789											
MEP1A	4224	broad.mit.edu	37	6	46766355	46766355	+	Missense_Mutation	SNP	A	A	T			TCGA-VM-A8CB-01A-11D-A36O-08	TCGA-VM-A8CB-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25c0282-4c24-40bd-afdf-7a1e22a2e010	501724d7-f323-41b0-a4d2-41dfd3e141db	g.chr6:46766355A>T	ENST00000230588.4	+	4	167	c.158A>T	c.(157-159)gAc>gTc	p.D53V		NM_005588.2	NP_005579.2	Q16819	MEP1A_HUMAN	meprin A, alpha (PABA peptide hydrolase)	53					digestion|proteolysis	extracellular space|integral to plasma membrane|soluble fraction	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42			Lung(136;0.192)			GCAGGCTTGGACCTCTTTCAA	0.398													34	53					0	0	1	0	0	T	46766355	A	T	46766355	3	4	496	1	0	0	0	0	1	0	0	0	9525	275	10	5	172	5	MEP1A	6	46766355	Missense_Mutation	SNP	A	TCGA-VM-A8CB-01A-11D-A36O-08	210564	46766355	124348712	15	37790											
EIF3B	8662	broad.mit.edu	37	7	2403386	2403386	+	Silent	SNP	A	A	G			TCGA-VM-A8CB-01A-11D-A36O-08	TCGA-VM-A8CB-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25c0282-4c24-40bd-afdf-7a1e22a2e010	501724d7-f323-41b0-a4d2-41dfd3e141db	g.chr7:2403386A>G	ENST00000360876.4	+	5	1046	c.990A>G	c.(988-990)gaA>gaG	p.E330E	EIF3B_ENST00000397011.2_Silent_p.E330E	NM_001037283.1	NP_001032360.1	P55884	EIF3B_HUMAN	eukaryotic translation initiation factor 3, subunit B	330	Sufficient for interaction with EIF3E.				regulation of translational initiation	cytosol|eukaryotic translation initiation factor 3 complex	nucleotide binding|protein complex scaffold|translation initiation factor activity			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	24		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;7.76e-14)		TCTCAATTGAAGAAAGAGCGG	0.448													39	31					0	0	1	0	0	G	2403386	A	G	2403386	2	3	496	1	0	0	0	0	0	0	0	1	5039	69	3	3		3	EIF3B	7	2403386	Silent	SNP	A	TCGA-VM-A8CB-01A-11D-A36O-08		2403386	156735277	16	37791											
FLNC	2318	broad.mit.edu	37	7	128493774	128493774	+	Missense_Mutation	SNP	C	C	T			TCGA-VM-A8CB-01A-11D-A36O-08	TCGA-VM-A8CB-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25c0282-4c24-40bd-afdf-7a1e22a2e010	501724d7-f323-41b0-a4d2-41dfd3e141db	g.chr7:128493774C>T	ENST00000325888.8	+	39	6628	c.6367C>T	c.(6367-6369)Ccc>Tcc	p.P2123S	RP11-309L24.2_ENST00000469965.1_RNA|FLNC_ENST00000346177.6_Missense_Mutation_p.P2090S	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	2123					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						TTCAGGAAGCCCCTTCACTGT	0.642													27	26					0	0	1	0	0	T	128493774	C	T	128493774	3	4	496	1	0	0	0	0	1	0	0	0	5968	623	22	2	6521	2	FLNC	7	128493774	Missense_Mutation	SNP	C	TCGA-VM-A8CB-01A-11D-A36O-08	126090388	128493774	30644889	17	37792											
RBM33	155435	broad.mit.edu	37	7	155531073	155531074	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-VM-A8CB-01A-11D-A36O-08	TCGA-VM-A8CB-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25c0282-4c24-40bd-afdf-7a1e22a2e010	501724d7-f323-41b0-a4d2-41dfd3e141db	g.chr7:155531073_155531074delCA	ENST00000401878.3	+	11	1911_1912	c.1713_1714delCA	c.(1711-1716)cccacafs	p.T572fs		NM_053043.2	NP_444271.2	Q96EV2	RBM33_HUMAN	RNA binding motif protein 33	572	Pro-rich.						nucleotide binding|RNA binding			breast(3)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	27	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)		CGTTTCTGCCCACACACACACA	0.53													7	73	---	---	---	---						-	155531074	CA	-	155531073	7	5	496	1	0	1	0	1	0	0	0	0	13182	581	21	0	1755	0	RBM33	7	155531073	Frame_Shift_Del	DEL	CA	TCGA-VM-A8CB-01A-11D-A36O-08	27037299	155531073	3607590	18	37793											
NEFM	4741	broad.mit.edu	37	8	24774809	24774809	+	Missense_Mutation	SNP	G	G	A			TCGA-VM-A8CB-01A-11D-A36O-08	TCGA-VM-A8CB-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25c0282-4c24-40bd-afdf-7a1e22a2e010	501724d7-f323-41b0-a4d2-41dfd3e141db	g.chr8:24774809G>A	ENST00000221166.5	+	3	2223	c.1441G>A	c.(1441-1443)Gcc>Acc	p.A481T	NEFM_ENST00000518131.1_Missense_Mutation_p.A481T|NEFM_ENST00000433454.2_Missense_Mutation_p.A105T|NEFM_ENST00000437366.2_Missense_Mutation_p.A481T|NEFM_ENST00000521540.1_3'UTR			P07197	NFM_HUMAN	neurofilament, medium polypeptide	481	Tail.					neurofilament	protein binding|structural constituent of cytoskeleton			breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1)	36		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		AGAGGAATTGGCCGTTTCCAT	0.458													23	18					0	0	1	0	0	A	24774809	G	A	24774809	3	1	496	1	0	0	0	0	1	0	0	0	10363	1203	42	2	1451	2	NEFM	8	24774809	Missense_Mutation	SNP	G	TCGA-VM-A8CB-01A-11D-A36O-08		24774809	121589213	19	37794											
PTGR1	22949	broad.mit.edu	37	9	114337092	114337092	+	Missense_Mutation	SNP	C	C	T	rs146199919	byFrequency	TCGA-VM-A8CB-01A-11D-A36O-08	TCGA-VM-A8CB-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25c0282-4c24-40bd-afdf-7a1e22a2e010	501724d7-f323-41b0-a4d2-41dfd3e141db	g.chr9:114337092C>T	ENST00000407693.2	-	8	944	c.682G>A	c.(682-684)Ggc>Agc	p.G228S	PTGR1_ENST00000538962.1_Missense_Mutation_p.G228S|ZNF483_ENST00000358151.4_Intron|PTGR1_ENST00000238248.3_Missense_Mutation_p.G105S|PTGR1_ENST00000309195.5_Missense_Mutation_p.G228S|RP11-16L21.7_ENST00000450154.1_RNA	NM_001146108.1	NP_001139580.1	Q14914	PTGR1_HUMAN	prostaglandin reductase 1	228					leukotriene metabolic process	cytoplasm	15-oxoprostaglandin 13-oxidase activity|2-alkenal reductase activity|alcohol dehydrogenase (NAD) activity|zinc ion binding			endometrium(2)|large_intestine(5)|lung(3)|ovary(1)	11						TTCATCTGGCCGATAACAGTG	0.403													9	77					0	0	1	0	0	T	114337092	C	T	114337092	3	4	496	1	0	0	0	0	1	0	0	0	12803	652	23	1	350	1	PTGR1	9	114337092	Missense_Mutation	SNP	C	TCGA-VM-A8CB-01A-11D-A36O-08		114337092	26876339	20	37795											
OR4S2	219431	broad.mit.edu	37	11	55419211	55419211	+	Missense_Mutation	SNP	C	C	G			TCGA-VM-A8CB-01A-11D-A36O-08	TCGA-VM-A8CB-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25c0282-4c24-40bd-afdf-7a1e22a2e010	501724d7-f323-41b0-a4d2-41dfd3e141db	g.chr11:55419211C>G	ENST00000312422.2	+	1	832	c.832C>G	c.(832-834)Ccc>Gcc	p.P278A		NM_001004059.2	NP_001004059.2	Q8NH73	OR4S2_HUMAN	olfactory receptor, family 4, subfamily S, member 2	278					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_epithelial(135;0.0748)				CATTATCACTCCCATGTTAAA	0.408													5	334					0	0	1	0	0	G	55419211	C	G	55419211	3	3	496	1	0	0	0	0	1	0	0	0	11131	855	30	5	834	5	OR4S2	11	55419211	Missense_Mutation	SNP	C	TCGA-VM-A8CB-01A-11D-A36O-08		55419211	79587305	21	37796											
ATXN2	6311	broad.mit.edu	37	12	111895132	111895132	+	Silent	SNP	C	C	T			TCGA-VM-A8CB-01A-11D-A36O-08	TCGA-VM-A8CB-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25c0282-4c24-40bd-afdf-7a1e22a2e010	501724d7-f323-41b0-a4d2-41dfd3e141db	g.chr12:111895132C>T	ENST00000377617.3	-	22	3563	c.3402G>A	c.(3400-3402)gcG>gcA	p.A1134A	ATXN2_ENST00000535949.1_Silent_p.A827A|ATXN2_ENST00000608853.1_Silent_p.A974A|ATXN2_ENST00000389153.4_Silent_p.A871A|ATXN2_ENST00000542287.2_Silent_p.A869A|ATXN2_ENST00000550104.1_3'UTR	NM_002973.3	NP_002964.3	Q99700	ATX2_HUMAN	ataxin 2	1134					cell death|cytoplasmic mRNA processing body assembly|regulation of translation|RNA metabolic process|RNA transport|stress granule assembly	nucleus|perinuclear region of cytoplasm|polysome|stress granule|trans-Golgi network	protein C-terminus binding|RNA binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37						CGTTAGGGTGCGCATACTGCT	0.537													8	45					0	0	1	0	0	T	111895132	C	T	111895132	2	4	496	1	0	0	0	0	0	0	0	1	1209	755	27	1		1	ATXN2	12	111895132	Silent	SNP	C	TCGA-VM-A8CB-01A-11D-A36O-08		111895132	21956763	22	37797											
VPS36	51028	broad.mit.edu	37	13	52991270	52991270	+	Silent	SNP	A	A	T			TCGA-VM-A8CB-01A-11D-A36O-08	TCGA-VM-A8CB-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25c0282-4c24-40bd-afdf-7a1e22a2e010	501724d7-f323-41b0-a4d2-41dfd3e141db	g.chr13:52991270A>T	ENST00000378060.4	-	12	939	c.912T>A	c.(910-912)cgT>cgA	p.R304R		NM_001282168.1|NM_001282169.1|NM_016075.2	NP_001269097.1|NP_001269098.1|NP_057159.2	Q86VN1	VPS36_HUMAN	vacuolar protein sorting 36 homolog (S. cerevisiae)	304					cellular membrane organization|endosome transport|protein transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|late endosome|membrane|nucleus	lipid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	17		Breast(56;0.000207)|Lung NSC(96;0.00212)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.14e-08)		TGTCAAACACACGGAGCCTGA	0.468													29	37					0	0	1	0	0	T	52991270	A	T	52991270	2	4	496	1	0	0	0	0	0	0	0	1	17264	146	6	5		5	VPS36	13	52991270	Silent	SNP	A	TCGA-VM-A8CB-01A-11D-A36O-08		52991270	62178608	23	37798											
HS6ST3	266722	broad.mit.edu	37	13	97485206	97485206	+	Silent	SNP	C	C	T			TCGA-VM-A8CB-01A-11D-A36O-08	TCGA-VM-A8CB-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25c0282-4c24-40bd-afdf-7a1e22a2e010	501724d7-f323-41b0-a4d2-41dfd3e141db	g.chr13:97485206C>T	ENST00000376705.2	+	2	1194	c.1170C>T	c.(1168-1170)aaC>aaT	p.N390N		NM_153456.3	NP_703157.2	Q8IZP7	H6ST3_HUMAN	heparan sulfate 6-O-sulfotransferase 3	390						integral to membrane	sulfotransferase activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(1)	20	all_neural(89;0.0878)|Medulloblastoma(90;0.163)					TGGAGATCAACGAGGGTGCCC	0.498													7	100					0	0	1	0	0	T	97485206	C	T	97485206	2	4	496	1	0	0	0	0	0	0	0	1	7413	535	19	1		1	HS6ST3	13	97485206	Silent	SNP	C	TCGA-VM-A8CB-01A-11D-A36O-08	44493936	97485206	17684672	24	37799											
CYP46A1	10858	broad.mit.edu	37	14	100166434	100166434	+	Missense_Mutation	SNP	C	C	T			TCGA-VM-A8CB-01A-11D-A36O-08	TCGA-VM-A8CB-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25c0282-4c24-40bd-afdf-7a1e22a2e010	501724d7-f323-41b0-a4d2-41dfd3e141db	g.chr14:100166434C>T	ENST00000261835.3	+	5	543	c.439C>T	c.(439-441)Cgg>Tgg	p.R147W	CYP46A1_ENST00000423126.2_Missense_Mutation_p.R50W	NM_006668.1	NP_006659.1	Q9Y6A2	CP46A_HUMAN	cytochrome P450, family 46, subfamily A, polypeptide 1	147					bile acid biosynthetic process|cholesterol catabolic process|nervous system development|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol 24-hydroxylase activity|electron carrier activity|heme binding|steroid hydroxylase activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)	25		Melanoma(154;0.0866)|all_epithelial(191;0.179)				GGCCTTCAGCCGGAGGTGAGT	0.627													5	13					0	0	1	0	0	T	100166434	C	T	100166434	3	4	496	1	0	0	0	0	1	0	0	0	4205	643	23	1	457	1	CYP46A1	14	100166434	Missense_Mutation	SNP	C	TCGA-VM-A8CB-01A-11D-A36O-08		100166434	7183106	25	37800											
HERC1	8925	broad.mit.edu	37	15	64067698	64067698	+	Missense_Mutation	SNP	A	A	G			TCGA-VM-A8CB-01A-11D-A36O-08	TCGA-VM-A8CB-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25c0282-4c24-40bd-afdf-7a1e22a2e010	501724d7-f323-41b0-a4d2-41dfd3e141db	g.chr15:64067698A>G	ENST00000443617.2	-	2	212	c.125T>C	c.(124-126)gTt>gCt	p.V42A		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	42					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						CTTATTGCTAACCAGTTTAGA	0.433													4	109					0	0	1	0	0	G	64067698	A	G	64067698	3	3	496	1	0	0	0	0	1	0	0	0	7098	43	2	3	14768	3	HERC1	15	64067698	Missense_Mutation	SNP	A	TCGA-VM-A8CB-01A-11D-A36O-08		64067698	38463694	26	37801											
PML	5371	broad.mit.edu	37	15	74328199	74328199	+	Silent	SNP	T	T	C			TCGA-VM-A8CB-01A-11D-A36O-08	TCGA-VM-A8CB-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25c0282-4c24-40bd-afdf-7a1e22a2e010	501724d7-f323-41b0-a4d2-41dfd3e141db	g.chr15:74328199T>C	ENST00000268059.6	+	8	2493	c.2397T>C	c.(2395-2397)ccT>ccC	p.P799P	PML_ENST00000354026.6_Silent_p.P751P|PML_ENST00000395132.2_Intron|PML_ENST00000268058.3_Intron|PML_ENST00000564428.1_Intron|PML_ENST00000395135.3_Intron|PML_ENST00000563500.1_3'UTR|PML_ENST00000435786.2_3'UTR|PML_ENST00000569965.1_Intron|PML_ENST00000436891.3_3'UTR|PML_ENST00000359928.4_Intron|PML_ENST00000565898.1_Intron	NM_033239.2|NM_033244.3	NP_150242.1|NP_150247.2	P29590	PML_HUMAN	promyelocytic leukemia	89					cell cycle arrest|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 resulting in induction of apoptosis|endoplasmic reticulum calcium ion homeostasis|induction of apoptosis|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|maintenance of protein location in nucleus|negative regulation of angiogenesis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of mitotic cell cycle|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|negative regulation of telomerase activity|negative regulation of telomere maintenance via telomerase|negative regulation of transcription, DNA-dependent|negative regulation of translation in response to oxidative stress|PML body organization|positive regulation of defense response to virus by host|positive regulation of histone deacetylation|protein complex assembly|protein stabilization|protein targeting|regulation of calcium ion transport into cytosol|regulation of protein phosphorylation|response to hypoxia|response to virus|transcription, DNA-dependent	cytoplasm|cytosol|early endosome membrane|extrinsic to endoplasmic reticulum membrane|insoluble fraction|nuclear matrix|nuclear membrane|nucleolus|nucleus|PML body	cobalt ion binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|SUMO binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	31						TCCAAGTGCCTCTGGAAGCCT	0.627			T	"RARA, PAX5"	"APL, ALL"								6	171					0	0	1	0	0	C	74328199	T	C	74328199	2	2	496	1	0	0	0	0	0	0	0	1	12183	1538	54	3		3	PML	15	74328199	Silent	SNP	T	TCGA-VM-A8CB-01A-11D-A36O-08	10260501	74328199	28203193	27	37802											
MYH3	4621	broad.mit.edu	37	17	10546191	10546191	+	Missense_Mutation	SNP	G	G	T			TCGA-VM-A8CB-01A-11D-A36O-08	TCGA-VM-A8CB-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25c0282-4c24-40bd-afdf-7a1e22a2e010	501724d7-f323-41b0-a4d2-41dfd3e141db	g.chr17:10546191G>T	ENST00000583535.1	-	15	1620	c.1533C>A	c.(1531-1533)ttC>ttA	p.F511L	MYH3_ENST00000226209.7_Missense_Mutation_p.F511L	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	511	Myosin head-like.				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						CGAAGTCAATGAACGTCCACT	0.502													87	132					3.26951e-42	3.429e-42	1	1	0	T	10546191	G	T	10546191	3	4	496	1	0	0	0	0	1	0	0	0	10084	1281	45	5	4397	5	MYH3	17	10546191	Missense_Mutation	SNP	G	TCGA-VM-A8CB-01A-11D-A36O-08		10546191	70649019	28	37803											
CCL11	6356	broad.mit.edu	37	17	32614693	32614693	+	Missense_Mutation	SNP	C	C	T			TCGA-VM-A8CB-01A-11D-A36O-08	TCGA-VM-A8CB-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25c0282-4c24-40bd-afdf-7a1e22a2e010	501724d7-f323-41b0-a4d2-41dfd3e141db	g.chr17:32614693C>T	ENST00000305869.3	+	3	419	c.278C>T	c.(277-279)cCa>cTa	p.P93L		NM_002986.2	NP_002977.1	P51671	CCL11_HUMAN	chemokine (C-C motif) ligand 11	93					cell adhesion|cellular calcium ion homeostasis|immune response|positive regulation of actin filament polymerization|positive regulation of cell migration|positive regulation of endothelial cell proliferation|positive regulation of Rac GTPase activity|protein phosphorylation|response to radiation|response to virus|signal transduction	extracellular space	chemokine activity			breast(1)|lung(1)|prostate(1)	3	Breast(3;0.00224)	Breast(31;0.151)|Ovarian(249;0.17)		BRCA - Breast invasive adenocarcinoma(366;0.155)		CAAAAATCTCCAACTCCAAAG	0.438													12	27					0	0	1	0	0	T	32614693	C	T	32614693	3	4	496	1	0	0	0	0	1	0	0	0	2903	594	21	2	288	2	CCL11	17	32614693	Missense_Mutation	SNP	C	TCGA-VM-A8CB-01A-11D-A36O-08	22068502	32614693	48580517	29	37804											
MAP2K6	5608	broad.mit.edu	37	17	67501928	67501928	+	Silent	SNP	G	G	A			TCGA-VM-A8CB-01A-11D-A36O-08	TCGA-VM-A8CB-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25c0282-4c24-40bd-afdf-7a1e22a2e010	501724d7-f323-41b0-a4d2-41dfd3e141db	g.chr17:67501928G>A	ENST00000590474.1	+	2	311	c.24G>A	c.(22-24)aaG>aaA	p.K8K	MAP2K6_ENST00000589647.1_5'UTR	NM_002758.3	NP_002749.2	P52564	MP2K6_HUMAN	mitogen-activated protein kinase kinase 6	8					activation of MAPK activity|cell cycle arrest|DNA damage induced protein phosphorylation|innate immune response|muscle cell differentiation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of muscle cell differentiation|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	20	Breast(10;6.05e-10)					TAGGCAAGAAGCGAAACCCTG	0.433													10	146					0	0	1	0	0	A	67501928	G	A	67501928	2	1	496	1	0	0	0	0	0	0	0	1	9291	962	34	2		2	MAP2K6	17	67501928	Silent	SNP	G	TCGA-VM-A8CB-01A-11D-A36O-08	34887235	67501928	13693282	30	37805											
EVPL	2125	broad.mit.edu	37	17	74003439	74003439	+	Missense_Mutation	SNP	C	C	A			TCGA-VM-A8CB-01A-11D-A36O-08	TCGA-VM-A8CB-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25c0282-4c24-40bd-afdf-7a1e22a2e010	501724d7-f323-41b0-a4d2-41dfd3e141db	g.chr17:74003439C>A	ENST00000301607.3	-	22	6100	c.5847G>T	c.(5845-5847)agG>agT	p.R1949S	EVPL_ENST00000586740.1_Missense_Mutation_p.R1971S	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	1949	Globular 2.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						TGCGGCCTGTCCTCTTGGGGT	0.662													39	49					2.75727e-19	2.82292e-19	1	1	0	A	74003439	C	A	74003439	3	1	496	1	0	0	0	0	1	0	0	0	5320	854	30	5	258	5	EVPL	17	74003439	Missense_Mutation	SNP	C	TCGA-VM-A8CB-01A-11D-A36O-08	6501511	74003439	7191771	31	37806											
GRIK5	2901	broad.mit.edu	37	19	42507582	42507582	+	Missense_Mutation	SNP	C	C	T			TCGA-VM-A8CB-01A-11D-A36O-08	TCGA-VM-A8CB-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25c0282-4c24-40bd-afdf-7a1e22a2e010	501724d7-f323-41b0-a4d2-41dfd3e141db	g.chr19:42507582C>T	ENST00000262895.3	-	18	2415	c.2416G>A	c.(2416-2418)Ggc>Agc	p.G806S	GRIK5_ENST00000301218.4_Missense_Mutation_p.G806S|GRIK5_ENST00000593562.1_Missense_Mutation_p.G806S	NM_002088.4	NP_002079.3	Q16478	GRIK5_HUMAN	glutamate receptor, ionotropic, kainate 5	806						cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	35		Prostate(69;0.059)			L-Glutamic Acid(DB00142)	ATAAAAATGCCACCAATGTTC	0.577													28	4					0	0	1	0	0	T	42507582	C	T	42507582	3	4	496	1	0	0	0	0	1	0	0	0	6818	594	21	2	534	2	GRIK5	19	42507582	Missense_Mutation	SNP	C	TCGA-VM-A8CB-01A-11D-A36O-08		42507582	16621401	32	37807											
CIC	23152	broad.mit.edu	37	19	42791808	42791808	+	Missense_Mutation	SNP	A	A	G			TCGA-VM-A8CB-01A-11D-A36O-08	TCGA-VM-A8CB-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25c0282-4c24-40bd-afdf-7a1e22a2e010	501724d7-f323-41b0-a4d2-41dfd3e141db	g.chr19:42791808A>G	ENST00000572681.2	+	6	3489	c.3421A>G	c.(3421-3423)Aag>Gag	p.K1141E	CIC_ENST00000575354.2_Missense_Mutation_p.K232E|CIC_ENST00000160740.3_Missense_Mutation_p.K232E			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	232	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				GACCGTCAGCAAGATCCTGGG	0.622			"Mis, F, S"		oligodendroglioma								36	8					0	0	1	0	0	G	42791808	A	G	42791808	3	3	496	1	0	0	0	0	1	0	0	0	3446	131	5	3	712	3	CIC	19	42791808	Missense_Mutation	SNP	A	TCGA-VM-A8CB-01A-11D-A36O-08	284226	42791808	16337175	33	37808											
KIF16B	55614	broad.mit.edu	37	20	16387071	16387071	+	Missense_Mutation	SNP	A	A	T			TCGA-VM-A8CB-01A-11D-A36O-08	TCGA-VM-A8CB-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25c0282-4c24-40bd-afdf-7a1e22a2e010	501724d7-f323-41b0-a4d2-41dfd3e141db	g.chr20:16387071A>T	ENST00000354981.2	-	16	1800	c.1643T>A	c.(1642-1644)aTg>aAg	p.M548K	KIF16B_ENST00000355755.3_Missense_Mutation_p.M548K|KIF16B_ENST00000378003.2_5'UTR|KIF16B_ENST00000408042.1_Missense_Mutation_p.M548K	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	548					cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						AAAGCGAAACATATTGGTTCT	0.468													61	83					0	0	1	0	0	T	16387071	A	T	16387071	3	4	496	1	0	0	0	0	1	0	0	0	8320	217	8	4	2354	4	KIF16B	20	16387071	Missense_Mutation	SNP	A	TCGA-VM-A8CB-01A-11D-A36O-08		16387071	46638449	34	37809											
SLC5A1	6523	broad.mit.edu	37	22	32487699	32487699	+	Silent	SNP	C	C	T			TCGA-VM-A8CB-01A-11D-A36O-08	TCGA-VM-A8CB-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25c0282-4c24-40bd-afdf-7a1e22a2e010	501724d7-f323-41b0-a4d2-41dfd3e141db	g.chr22:32487699C>T	ENST00000266088.4	+	11	1480	c.1230C>T	c.(1228-1230)taC>taT	p.Y410Y	SLC5A1_ENST00000543737.1_Silent_p.Y283Y	NM_000343.3	NP_000334.1	P13866	SC5A1_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 1	410					carbohydrate metabolic process	integral to plasma membrane	glucose:sodium symporter activity|protein binding			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	37						TGGACATCTACGCCAAGGTCC	0.537													5	119					0	0	1	0	0	T	32487699	C	T	32487699	2	4	496	1	0	0	0	0	0	0	0	1	14716	547	19	1		1	SLC5A1	22	32487699	Silent	SNP	C	TCGA-VM-A8CB-01A-11D-A36O-08		32487699	18816867	35	37810											
IGBP1	3476	broad.mit.edu	37	X	69370131	69370131	+	Missense_Mutation	SNP	A	A	G			TCGA-VM-A8CB-01A-11D-A36O-08	TCGA-VM-A8CB-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25c0282-4c24-40bd-afdf-7a1e22a2e010	501724d7-f323-41b0-a4d2-41dfd3e141db	g.chrX:69370131A>G	ENST00000342206.6	+	5	1329	c.830A>G	c.(829-831)tAt>tGt	p.Y277C	IGBP1_ENST00000356413.4_Missense_Mutation_p.Y277C			P78318	IGBP1_HUMAN	immunoglobulin (CD79A) binding protein 1	277					B cell activation|negative regulation of caspase activity|negative regulation of stress-activated MAPK cascade|negative regulation of transcription from RNA polymerase II promoter|regulation of microtubule-based movement|response to interleukin-1|response to tumor necrosis factor|signal transduction	cytoplasm	protein phosphatase type 2A regulator activity			kidney(2)|large_intestine(3)|lung(3)|pancreas(1)|prostate(2)	11						CATCGGAAATATGGAGCATTA	0.458													7	20					0	0	1	0	0	G	69370131	A	G	69370131	3	3	496	1	0	0	0	0	1	0	0	0	7611	449	16	3	848	3	IGBP1	23	69370131	Missense_Mutation	SNP	A	TCGA-VM-A8CB-01A-11D-A36O-08		69370131	85900429	36	37811											
USP26	83844	broad.mit.edu	37	X	132160495	132160495	+	Missense_Mutation	SNP	C	C	G			TCGA-VM-A8CB-01A-11D-A36O-08	TCGA-VM-A8CB-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25c0282-4c24-40bd-afdf-7a1e22a2e010	501724d7-f323-41b0-a4d2-41dfd3e141db	g.chrX:132160495C>G	ENST00000511190.1	-	6	2223	c.1754G>C	c.(1753-1755)aGt>aCt	p.S585T	USP26_ENST00000370832.1_Missense_Mutation_p.S585T|USP26_ENST00000406273.1_Missense_Mutation_p.S585T	NM_031907.1	NP_114113.1	Q9BXU7	UBP26_HUMAN	ubiquitin specific peptidase 26	585					protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60	Acute lymphoblastic leukemia(192;0.000127)					CCATGATACACTGATGTTTCC	0.398													52	5					0	0	1	0	0	G	132160495	C	G	132160495	3	3	496	1	0	0	0	0	1	0	0	0	17117	565	20	4	990	4	USP26	23	132160495	Missense_Mutation	SNP	C	TCGA-VM-A8CB-01A-11D-A36O-08	62790364	132160495	23110065	37	37812											
HYI	81888	broad.mit.edu	37	1	43919413	43919413	+	Frame_Shift_Del	DEL	A	A	-	rs6692611	by1000genomes	TCGA-VM-A8CD-01A-11D-A36O-08	TCGA-VM-A8CD-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7928b2cc-7548-4b85-9107-a5462d1858db	18237653-5da7-42cf-8d0d-a2ba91a7e5ec	g.chr1:43919413delA	ENST00000372425.4	-	1	247	c.52delT	c.(52-54)tccfs	p.S18fs	HYI_ENST00000372434.1_Frame_Shift_Del_p.S18fs|HYI_ENST00000486909.1_Frame_Shift_Del_p.S18fs|HYI_ENST00000372432.1_Frame_Shift_Del_p.S18fs|HYI_ENST00000583037.1_5'UTR			Q5T013	HYI_HUMAN	hydroxypyruvate isomerase (putative)	18				S -> P (in Ref. 1; AAV84474, 3; AAK67642 and 5; AAH19041).			hydroxypyruvate isomerase activity			large_intestine(1)|lung(2)|ovary(1)|urinary_tract(2)	6	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GGGAGGCCGGAGAGCTCGGGG	0.771													2	4	---	---	---	---						-	43919413	A	-	43919413	7	5	497	1	0	1	0	1	0	0	0	0	7512	304	11	0	813	0	HYI	1	43919413	Frame_Shift_Del	DEL	A	TCGA-VM-A8CD-01A-11D-A36O-08		43919413	205331208	1	37813											
CFH	3075	broad.mit.edu	37	1	196654268	196654268	+	Missense_Mutation	SNP	G	G	A			TCGA-VM-A8CD-01A-11D-A36O-08	TCGA-VM-A8CD-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7928b2cc-7548-4b85-9107-a5462d1858db	18237653-5da7-42cf-8d0d-a2ba91a7e5ec	g.chr1:196654268G>A	ENST00000367429.4	+	7	1105	c.865G>A	c.(865-867)Gaa>Aaa	p.E289K	CFH_ENST00000439155.2_Missense_Mutation_p.E289K|CFH_ENST00000359637.2_Missense_Mutation_p.E225K	NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	289	Sushi 5.				complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						AACTGGAGATGAAATCACGTA	0.388													63	106					0	0	1	0	0	A	196654268	G	A	196654268	3	1	497	1	0	0	0	0	1	0	0	0	3305	1291	45	2	891	2	CFH	1	196654268	Missense_Mutation	SNP	G	TCGA-VM-A8CD-01A-11D-A36O-08	152734855	196654268	52596353	2	37814											
CAPG	822	broad.mit.edu	37	2	85622055	85622055	+	Missense_Mutation	SNP	C	C	G			TCGA-VM-A8CD-01A-11D-A36O-08	TCGA-VM-A8CD-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7928b2cc-7548-4b85-9107-a5462d1858db	18237653-5da7-42cf-8d0d-a2ba91a7e5ec	g.chr2:85622055C>G	ENST00000263867.4	-	10	1257	c.1008G>C	c.(1006-1008)gaG>gaC	p.E336D	CAPG_ENST00000409921.1_Missense_Mutation_p.E321D|CAPG_ENST00000409670.1_Missense_Mutation_p.E336D|CAPG_ENST00000409724.1_Missense_Mutation_p.E336D	NM_001256140.1|NM_001747.3	NP_001243069.1|NP_001738.2	P40121	CAPG_HUMAN	capping protein (actin filament), gelsolin-like	336					barbed-end actin filament capping|protein complex assembly	F-actin capping protein complex|melanosome|nuclear membrane|nucleolus	actin binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(6)	11						AGATGGGACTCTCATGGCCCT	0.597													8	19					0	0	1	0	0	G	85622055	C	G	85622055	3	3	497	1	0	0	0	0	1	0	0	0	2639	912	32	4	42	4	CAPG	2	85622055	Missense_Mutation	SNP	C	TCGA-VM-A8CD-01A-11D-A36O-08		85622055	157577318	3	37815											
HOXD4	3233	broad.mit.edu	37	2	177017669	177017669	+	Nonstop_Mutation	SNP	A	A	G			TCGA-VM-A8CD-01A-11D-A36O-08	TCGA-VM-A8CD-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7928b2cc-7548-4b85-9107-a5462d1858db	18237653-5da7-42cf-8d0d-a2ba91a7e5ec	g.chr2:177017669A>G	ENST00000306324.3	+	2	1179	c.767A>G	c.(766-768)tAg>tGg	p.*256W	HOXD3_ENST00000468418.3_5'UTR	NM_014621.2	NP_055436.2	P09016	HXD4_HUMAN	homeobox D4	0						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.00765)|Epithelial(96;0.105)	Colorectal(32;0.0224)|READ - Rectum adenocarcinoma(9;0.0556)		ACGACCTTATAGAAGTGGGGA	0.632													21	43					0	0	1	0	0	G	177017669	A	G	177017669	4	3	497	1	0	0	0	0	0	0	0	0	7365	433	15	3	773	3	HOXD4	2	177017669	Nonstop_Mutation	SNP	A	TCGA-VM-A8CD-01A-11D-A36O-08	91395614	177017669	66181704	4	37816											
PLXNB1	5364	broad.mit.edu	37	3	48454246	48454246	+	Missense_Mutation	SNP	G	G	A			TCGA-VM-A8CD-01A-11D-A36O-08	TCGA-VM-A8CD-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7928b2cc-7548-4b85-9107-a5462d1858db	18237653-5da7-42cf-8d0d-a2ba91a7e5ec	g.chr3:48454246G>A	ENST00000358536.4	-	25	5028	c.4759C>T	c.(4759-4761)Cgg>Tgg	p.R1587W	PLXNB1_ENST00000358459.4_Missense_Mutation_p.R1404W|PLXNB1_ENST00000456774.1_Missense_Mutation_p.R1404W|PLXNB1_ENST00000296440.6_Missense_Mutation_p.R1587W|PLXNB1_ENST00000448774.2_Missense_Mutation_p.R198W	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN	plexin B1	1587					axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CCCAGGTCCCGGTGCAAGGGC	0.622													17	29					0	0	1	0	0	A	48454246	G	A	48454246	3	1	497	1	0	0	0	0	1	0	0	0	12171	1115	39	1	1704	1	PLXNB1	3	48454246	Missense_Mutation	SNP	G	TCGA-VM-A8CD-01A-11D-A36O-08		48454246	149568184	5	37817											
POLQ	10721	broad.mit.edu	37	3	121154999	121154999	+	Silent	SNP	G	G	T	rs147692745	byFrequency	TCGA-VM-A8CD-01A-11D-A36O-08	TCGA-VM-A8CD-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7928b2cc-7548-4b85-9107-a5462d1858db	18237653-5da7-42cf-8d0d-a2ba91a7e5ec	g.chr3:121154999G>T	ENST00000264233.5	-	28	7641	c.7513C>A	c.(7513-7515)Cga>Aga	p.R2505R		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	2505					DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		ATACCCTCTCGATGACCATGG	0.403								DNA polymerases (catalytic subunits)					19	59					1.01871e-10	1.17544e-10	1	1	0	T	121154999	G	T	121154999	2	4	497	1	0	0	0	0	0	0	0	1	12256	1066	37	5		5	POLQ	3	121154999	Silent	SNP	G	TCGA-VM-A8CD-01A-11D-A36O-08	72700753	121154999	76867431	6	37818											
ANK2	287	broad.mit.edu	37	4	114274342	114274342	+	Missense_Mutation	SNP	C	C	T			TCGA-VM-A8CD-01A-11D-A36O-08	TCGA-VM-A8CD-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7928b2cc-7548-4b85-9107-a5462d1858db	18237653-5da7-42cf-8d0d-a2ba91a7e5ec	g.chr4:114274342C>T	ENST00000357077.4	+	38	4621	c.4568C>T	c.(4567-4569)aCa>aTa	p.T1523I	ANK2_ENST00000510275.2_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.T1490I|ANK2_ENST00000394537.3_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	1490					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		ATCTTGACCACAGATGTGTCT	0.443													41	72					0	0	1	0	0	T	114274342	C	T	114274342	3	4	497	1	0	0	0	0	1	0	0	0	617	478	17	2	4783	2	ANK2	4	114274342	Missense_Mutation	SNP	C	TCGA-VM-A8CD-01A-11D-A36O-08		114274342	76879934	7	37819											
MCTP1	79772	broad.mit.edu	37	5	94044279	94044279	+	Missense_Mutation	SNP	A	A	G	rs141609728	byFrequency	TCGA-VM-A8CD-01A-11D-A36O-08	TCGA-VM-A8CD-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7928b2cc-7548-4b85-9107-a5462d1858db	18237653-5da7-42cf-8d0d-a2ba91a7e5ec	g.chr5:94044279A>G	ENST00000515393.1	-	22	2865	c.2866T>C	c.(2866-2868)Tat>Cat	p.Y956H	MCTP1_ENST00000505078.1_Missense_Mutation_p.Y472H|MCTP1_ENST00000429576.2_Missense_Mutation_p.Y649H|MCTP1_ENST00000312216.8_Missense_Mutation_p.Y735H|MCTP1_ENST00000514040.1_5'UTR|ANKRD32_ENST00000493934.1_Intron	NM_024717.4	NP_078993.4	Q6DN14	MCTP1_HUMAN	multiple C2 domains, transmembrane 1	956					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	41		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)		all cancers(79;9.1e-17)		TCAATTGCATATGGACTCCGA	0.323													13	33					0	0	1	0	0	G	94044279	A	G	94044279	3	3	497	1	0	0	0	0	1	0	0	0	9450	449	16	3	141	3	MCTP1	5	94044279	Missense_Mutation	SNP	A	TCGA-VM-A8CD-01A-11D-A36O-08		94044279	86870981	8	37820											
NCR3	259197	broad.mit.edu	37	6	31556919	31556919	+	Silent	SNP	C	C	T			TCGA-VM-A8CD-01A-11D-A36O-08	TCGA-VM-A8CD-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7928b2cc-7548-4b85-9107-a5462d1858db	18237653-5da7-42cf-8d0d-a2ba91a7e5ec	g.chr6:31556919C>T	ENST00000340027.5	-	4	794	c.531G>A	c.(529-531)ccG>ccA	p.P177P	NCR3_ENST00000491161.1_5'UTR|NCR3_ENST00000376073.4_3'UTR	NM_147130.2	NP_667341.1	O14931	NCTR3_HUMAN	natural cytotoxicity triggering receptor 3	177					cell recognition|immune response|inflammatory response|positive regulation of natural killer cell mediated cytotoxicity	integral to plasma membrane	receptor activity			cervix(1)|large_intestine(2)|liver(1)|lung(2)|ovary(1)|skin(2)	9						GGACCACAGCCGGCAGCTGCC	0.582													4	8					0	0	1	0	0	T	31556919	C	T	31556919	2	4	497	1	0	0	0	0	0	0	0	1	10286	639	23	1		1	NCR3	6	31556919	Silent	SNP	C	TCGA-VM-A8CD-01A-11D-A36O-08		31556919	139558148	9	37821											
EGFR	1956	broad.mit.edu	37	7	55232997	55232997	+	Missense_Mutation	SNP	G	G	T			TCGA-VM-A8CD-01A-11D-A36O-08	TCGA-VM-A8CD-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7928b2cc-7548-4b85-9107-a5462d1858db	18237653-5da7-42cf-8d0d-a2ba91a7e5ec	g.chr7:55232997G>T	ENST00000275493.2	+	15	1924	c.1747G>T	c.(1747-1749)Gcc>Tcc	p.A583S	EGFR_ENST00000455089.1_Missense_Mutation_p.A538S|EGFR_ENST00000342916.3_Missense_Mutation_p.A583S|EGFR_ENST00000344576.2_Missense_Mutation_p.A583S|EGFR_ENST00000442591.1_Missense_Mutation_p.A583S|EGFR_ENST00000454757.2_Missense_Mutation_p.A530S	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	583					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	TATCCAGTGTGCCCACTACAT	0.498		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			12	61					1.05317e-09	1.18482e-09	1	1	0	T	55232997	G	T	55232997	3	4	497	1	0	0	0	0	1	0	0	0	4993	1319	46	5	1816	5	EGFR	7	55232997	Missense_Mutation	SNP	G	TCGA-VM-A8CD-01A-11D-A36O-08		55232997	103905666	10	37822			1	56		2	2	47	G		4.903494e-05
EGFR	1956	broad.mit.edu	37	7	55233043	55233043	+	Missense_Mutation	SNP	G	G	T	rs139236063		TCGA-VM-A8CD-01A-11D-A36O-08	TCGA-VM-A8CD-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7928b2cc-7548-4b85-9107-a5462d1858db	18237653-5da7-42cf-8d0d-a2ba91a7e5ec	g.chr7:55233043G>T	ENST00000275493.2	+	15	1970	c.1793G>T	c.(1792-1794)gGa>gTa	p.G598V	EGFR_ENST00000455089.1_Missense_Mutation_p.G553V|EGFR_ENST00000342916.3_Missense_Mutation_p.G598V|EGFR_ENST00000344576.2_Missense_Mutation_p.G598V|EGFR_ENST00000442591.1_Missense_Mutation_p.G598V|EGFR_ENST00000454757.2_Missense_Mutation_p.G545V	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	598					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.G598V(15)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	TGCCCGGCAGGAGTCATGGGA	0.567		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			15	52					3.27435e-08	3.50823e-08	1	1	0	T	55233043	G	T	55233043	3	4	497	1	0	0	0	0	1	0	0	0	4993	1174	41	5	1862	5	EGFR	7	55233043	Missense_Mutation	SNP	G	TCGA-VM-A8CD-01A-11D-A36O-08	46	55233043	103905620	11	37823			1	56		2	2	47	G		4.903494e-05
STEAP1	26872	broad.mit.edu	37	7	89790581	89790581	+	Missense_Mutation	SNP	C	C	G			TCGA-VM-A8CD-01A-11D-A36O-08	TCGA-VM-A8CD-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7928b2cc-7548-4b85-9107-a5462d1858db	18237653-5da7-42cf-8d0d-a2ba91a7e5ec	g.chr7:89790581C>G	ENST00000297205.2	+	3	747	c.547C>G	c.(547-549)Cca>Gca	p.P183A	STEAP2-AS1_ENST00000478318.2_RNA	NM_012449.2	NP_036581.1	Q9UHE8	STEA1_HUMAN	six transmembrane epithelial antigen of the prostate 1	183	Ferric oxidoreductase.				electron transport chain|ion transport|iron ion homeostasis	cell-cell junction|endosome membrane|integral to plasma membrane	channel activity|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity			kidney(2)|large_intestine(3)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	14	all_hematologic(106;0.112)					TCTGTCTTACCCAATGAGGCG	0.388													5	78					0	0	1	0	0	G	89790581	C	G	89790581	3	3	497	1	0	0	0	0	1	0	0	0	15333	623	22	5	553	5	STEAP1	7	89790581	Missense_Mutation	SNP	C	TCGA-VM-A8CD-01A-11D-A36O-08	34557538	89790581	69348082	12	37824											
CUX1	1523	broad.mit.edu	37	7	101671400	101671400	+	Missense_Mutation	SNP	C	C	T			TCGA-VM-A8CD-01A-11D-A36O-08	TCGA-VM-A8CD-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7928b2cc-7548-4b85-9107-a5462d1858db	18237653-5da7-42cf-8d0d-a2ba91a7e5ec	g.chr7:101671400C>T	ENST00000360264.3	+	3	217	c.197C>T	c.(196-198)cCg>cTg	p.P66L	CUX1_ENST00000393824.3_Missense_Mutation_p.P29L|CUX1_ENST00000437600.4_Missense_Mutation_p.P66L|CUX1_ENST00000292535.7_Missense_Mutation_p.P55L|CUX1_ENST00000425244.2_Missense_Mutation_p.P66L|CUX1_ENST00000560541.1_3'UTR|CUX1_ENST00000550008.2_Missense_Mutation_p.P55L|CUX1_ENST00000556210.1_Missense_Mutation_p.P55L|CUX1_ENST00000546411.2_Missense_Mutation_p.P55L|CUX1_ENST00000292538.4_Missense_Mutation_p.P66L|CUX1_ENST00000547394.2_Intron|CUX1_ENST00000549414.2_Missense_Mutation_p.P55L	NM_001202543.1	NP_001189472.1	P39880	CUX1_HUMAN	cut-like homeobox 1	55					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						CAGGTAGCGCCGCTGCTGAAG	0.463													13	36					0	0	1	0	0	T	101671400	C	T	101671400	3	4	497	1	0	0	0	0	1	0	0	0	4087	652	23	1	241	1	CUX1	7	101671400	Missense_Mutation	SNP	C	TCGA-VM-A8CD-01A-11D-A36O-08	11880819	101671400	57467263	13	37825											
STAR	6770	broad.mit.edu	37	8	38006211	38006211	+	Silent	SNP	G	G	A			TCGA-VM-A8CD-01A-11D-A36O-08	TCGA-VM-A8CD-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7928b2cc-7548-4b85-9107-a5462d1858db	18237653-5da7-42cf-8d0d-a2ba91a7e5ec	g.chr8:38006211G>A	ENST00000276449.4	-	2	572	c.126C>T	c.(124-126)ggC>ggT	p.G42G		NM_000349.2	NP_000340.2	P49675	STAR_HUMAN	steroidogenic acute regulatory protein	42					C21-steroid hormone biosynthetic process	mitochondrial intermembrane space	cholesterol transporter activity	p.T44fs*3(1)		breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	11	Colorectal(12;0.000442)	all_lung(54;0.0151)|Lung NSC(58;0.0295)		READ - Rectum adenocarcinoma(644;0.188)		TAGGGGTGGGGCCCCCCAGGG	0.627													18	44					0	0	1	0	0	A	38006211	G	A	38006211	2	1	497	1	0	0	0	0	0	0	0	1	15310	1190	42	2		2	STAR	8	38006211	Silent	SNP	G	TCGA-VM-A8CD-01A-11D-A36O-08		38006211	108357811	14	37826											
ROR2	4920	broad.mit.edu	37	9	94486078	94486078	+	Missense_Mutation	SNP	C	C	T			TCGA-VM-A8CD-01A-11D-A36O-08	TCGA-VM-A8CD-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7928b2cc-7548-4b85-9107-a5462d1858db	18237653-5da7-42cf-8d0d-a2ba91a7e5ec	g.chr9:94486078C>T	ENST00000375708.3	-	9	2896	c.2698G>A	c.(2698-2700)Gcc>Acc	p.A900T	ROR2_ENST00000375715.1_Intron|ROR2_ENST00000550066.1_5'UTR	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	900					negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						TCTTCTGGGGCGTTCTGTGTG	0.632													40	82					0	0	1	0	0	T	94486078	C	T	94486078	3	4	497	1	0	0	0	0	1	0	0	0	13579	768	27	1	137	1	ROR2	9	94486078	Missense_Mutation	SNP	C	TCGA-VM-A8CD-01A-11D-A36O-08		94486078	46727353	15	37827											
PTEN	5728	broad.mit.edu	37	10	89692911	89692911	+	Missense_Mutation	SNP	G	G	A	rs121909241		TCGA-VM-A8CD-01A-11D-A36O-08	TCGA-VM-A8CD-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7928b2cc-7548-4b85-9107-a5462d1858db	18237653-5da7-42cf-8d0d-a2ba91a7e5ec	g.chr10:89692911G>A	ENST00000371953.3	+	5	1752	c.395G>A	c.(394-396)gGt>gAt	p.G132D		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	132	Phosphatase tensin-type.		G -> V (in one patient with clinical findings suggesting hamartoma tumor syndrome).		activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.?(5)|p.R55fs*1(5)|p.G132D(4)|p.Y27fs*1(2)|p.G132V(1)|p.A121_F145del(1)|p.R130fs*2(1)|p.T131fs*42(1)|p.F56fs*2(1)|p.K128fs*47(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		GGACGAACTGGTGTAATGATA	0.398		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			33	42					0	0	1	0	0	A	89692911	G	A	89692911	3	1	497	1	0	0	0	0	1	0	0	0	12787	1261	44	2	413	2	PTEN	10	89692911	Missense_Mutation	SNP	G	TCGA-VM-A8CD-01A-11D-A36O-08		89692911	45841836	16	37828											
XPNPEP1	7511	broad.mit.edu	37	10	111637761	111637761	+	Missense_Mutation	SNP	C	C	T			TCGA-VM-A8CD-01A-11D-A36O-08	TCGA-VM-A8CD-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7928b2cc-7548-4b85-9107-a5462d1858db	18237653-5da7-42cf-8d0d-a2ba91a7e5ec	g.chr10:111637761C>T	ENST00000502935.1	-	13	1357	c.1238G>A	c.(1237-1239)cGc>cAc	p.R413H	XPNPEP1_ENST00000369683.1_Missense_Mutation_p.R299H|XPNPEP1_ENST00000322238.8_Missense_Mutation_p.R413H|XPNPEP1_ENST00000369680.4_Missense_Mutation_p.R370H			Q9NQW7	XPP1_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 1, soluble	370					bradykinin catabolic process|proteolysis		manganese ion binding|metalloaminopeptidase activity|protein homodimerization activity	p.R370H(1)		endometrium(2)|kidney(9)|large_intestine(4)|lung(9)|ovary(3)|pancreas(2)|skin(1)|urinary_tract(1)	31		Breast(234;0.174)		Epithelial(162;1.64e-05)|all cancers(201;0.000564)|BRCA - Breast invasive adenocarcinoma(275;0.0721)		TCCTTACCTGCGAAACTCCTC	0.463													4	66					0	0	1	0	0	T	111637761	C	T	111637761	3	4	497	1	0	0	0	0	1	0	0	0	17502	768	27	1	798	1	XPNPEP1	10	111637761	Missense_Mutation	SNP	C	TCGA-VM-A8CD-01A-11D-A36O-08	21944850	111637761	23896986	17	37829											
CDHR5	53841	broad.mit.edu	37	11	618738	618738	+	Silent	SNP	T	T	C			TCGA-VM-A8CD-01A-11D-A36O-08	TCGA-VM-A8CD-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7928b2cc-7548-4b85-9107-a5462d1858db	18237653-5da7-42cf-8d0d-a2ba91a7e5ec	g.chr11:618738T>C	ENST00000358353.3	-	14	2143	c.1821A>G	c.(1819-1821)gcA>gcG	p.A607A	CDHR5_ENST00000397542.2_Silent_p.A607A|CDHR5_ENST00000349570.7_Intron			Q9HBB8	CDHR5_HUMAN	cadherin-related family member 5	607	4 X 31 AA approximate tandem repeats.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	23						GAGAGGTTCCTGCCTCTGGGG	0.662													57	109					0	0	1	0	0	C	618738	T	C	618738	2	2	497	1	0	0	0	0	0	0	0	1	3144	1567	55	3		3	CDHR5	11	618738	Silent	SNP	T	TCGA-VM-A8CD-01A-11D-A36O-08		618738	134387778	18	37830											
SPTBN2	6712	broad.mit.edu	37	11	66455772	66455772	+	Missense_Mutation	SNP	C	C	T			TCGA-VM-A8CD-01A-11D-A36O-08	TCGA-VM-A8CD-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7928b2cc-7548-4b85-9107-a5462d1858db	18237653-5da7-42cf-8d0d-a2ba91a7e5ec	g.chr11:66455772C>T	ENST00000533211.1	-	32	6573	c.6242G>A	c.(6241-6243)cGg>cAg	p.R2081Q	SPTBN2_ENST00000529997.1_Missense_Mutation_p.R2081Q|SPTBN2_ENST00000309996.2_Missense_Mutation_p.R2081Q			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	2081					actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						ctccttctcccgctccTCTAG	0.567													5	8					0	0	1	0	0	T	66455772	C	T	66455772	3	4	497	1	0	0	0	0	1	0	0	0	15176	652	23	1	958	1	SPTBN2	11	66455772	Missense_Mutation	SNP	C	TCGA-VM-A8CD-01A-11D-A36O-08	65837034	66455772	68550744	19	37831											
LYRM5	144363	broad.mit.edu	37	12	25357118	25357118	+	Missense_Mutation	SNP	C	C	A			TCGA-VM-A8CD-01A-11D-A36O-08	TCGA-VM-A8CD-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7928b2cc-7548-4b85-9107-a5462d1858db	18237653-5da7-42cf-8d0d-a2ba91a7e5ec	g.chr12:25357118C>A	ENST00000557540.2	+	3	308	c.139C>A	c.(139-141)Cca>Aca	p.P47T	LYRM5_ENST00000556927.1_Missense_Mutation_p.P47T|LYRM5_ENST00000556402.1_3'UTR|LYRM5_ENST00000556351.1_Missense_Mutation_p.P47T|LYRM5_ENST00000381356.4_Missense_Mutation_p.P49T|LYRM5_ENST00000556885.1_Missense_Mutation_p.P47T|LYRM5_ENST00000555711.1_3'UTR|LYRM5_ENST00000553788.1_Intron			Q6IPR1	LYRM5_HUMAN	LYR motif containing 5	47										large_intestine(3)	3	all_cancers(2;4.75e-35)|all_epithelial(2;1.91e-37)|all_lung(3;1.07e-23)|Lung NSC(3;5.49e-23)|Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.0016)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;2.21e-21)|Epithelial(3;8.04e-19)|all cancers(3;2.26e-16)|STAD - Stomach adenocarcinoma(2;0.00138)			TGTGAAGAATCCAGAGAAGAT	0.363													16	27					3.45872e-05	3.53732e-05	1	1	0	A	25357118	C	A	25357118	3	1	497	1	0	0	0	0	1	0	0	0	9168	855	30	5	151	5	LYRM5	12	25357118	Missense_Mutation	SNP	C	TCGA-VM-A8CD-01A-11D-A36O-08		25357118	108494777	20	37832											
RPAP3	79657	broad.mit.edu	37	12	48063934	48063934	+	Silent	SNP	T	T	C			TCGA-VM-A8CD-01A-11D-A36O-08	TCGA-VM-A8CD-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7928b2cc-7548-4b85-9107-a5462d1858db	18237653-5da7-42cf-8d0d-a2ba91a7e5ec	g.chr12:48063934T>C	ENST00000005386.3	-	13	1597	c.1482A>G	c.(1480-1482)gcA>gcG	p.A494A	RPAP3_ENST00000380650.4_Silent_p.A460A|RPAP3_ENST00000432584.3_Silent_p.A335A	NM_024604.2	NP_078880.2	Q9H6T3	RPAP3_HUMAN	RNA polymerase II associated protein 3	494							binding			endometrium(2)|large_intestine(4)|liver(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16	Lung SC(27;0.192)					TCAATACTTTTGCTCTTGGAG	0.383													35	77					0	0	1	0	0	C	48063934	T	C	48063934	2	2	497	1	0	0	0	0	0	0	0	1	13595	1799	63	3		3	RPAP3	12	48063934	Silent	SNP	T	TCGA-VM-A8CD-01A-11D-A36O-08	22706816	48063934	85787961	21	37833											
NPAS3	64067	broad.mit.edu	37	14	34243682	34243682	+	Missense_Mutation	SNP	A	A	C			TCGA-VM-A8CD-01A-11D-A36O-08	TCGA-VM-A8CD-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7928b2cc-7548-4b85-9107-a5462d1858db	18237653-5da7-42cf-8d0d-a2ba91a7e5ec	g.chr14:34243682A>C	ENST00000346562.2	+	7	970	c.896A>C	c.(895-897)cAt>cCt	p.H299P	NPAS3_ENST00000357798.5_Missense_Mutation_p.H318P|NPAS3_ENST00000548645.1_Missense_Mutation_p.H301P|NPAS3_ENST00000356141.4_Missense_Mutation_p.H331P|NPAS3_ENST00000551492.1_Missense_Mutation_p.H336P	NM_001164749.1|NM_001165893.1|NM_022123.2|NM_173159.2	NP_001158221.1|NP_001159365.1|NP_071406.1|NP_775182.1	Q8IXF0	NPAS3_HUMAN	neuronal PAS domain protein 3	331					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)		ATTGACTGCCATATGTTCGTC	0.468													37	63					0	0	1	0	0	C	34243682	A	C	34243682	3	2	497	1	0	0	0	0	1	0	0	0	10611	217	8	4	1077	4	NPAS3	14	34243682	Missense_Mutation	SNP	A	TCGA-VM-A8CD-01A-11D-A36O-08		34243682	73105858	22	37834											
NDNL2	56160	broad.mit.edu	37	15	29561310	29561310	+	Missense_Mutation	SNP	G	G	C			TCGA-VM-A8CD-01A-11D-A36O-08	TCGA-VM-A8CD-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7928b2cc-7548-4b85-9107-a5462d1858db	18237653-5da7-42cf-8d0d-a2ba91a7e5ec	g.chr15:29561310G>C	ENST00000332303.4	-	1	723	c.600C>G	c.(598-600)gaC>gaG	p.D200E	FAM189A1_ENST00000261275.4_Intron	NM_138704.3	NP_619649.1	Q96MG7	MAGG1_HUMAN	necdin-like 2	200	MAGE.				regulation of growth	cytoplasm|nucleus				breast(3)|large_intestine(2)|lung(3)	8		all_lung(180;4.69e-11)|Breast(32;0.0013)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00736)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		GCCGCAGAAAGTCCCAGGCTT	0.517													22	40					0	0	1	0	0	C	29561310	G	C	29561310	3	2	497	1	0	0	0	0	1	0	0	0	10295	1020	36	4	318	4	NDNL2	15	29561310	Missense_Mutation	SNP	G	TCGA-VM-A8CD-01A-11D-A36O-08		29561310	72970082	23	37835											
AKAP13	11214	broad.mit.edu	37	15	86287023	86287025	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-VM-A8CD-01A-11D-A36O-08	TCGA-VM-A8CD-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7928b2cc-7548-4b85-9107-a5462d1858db	18237653-5da7-42cf-8d0d-a2ba91a7e5ec	g.chr15:86287023_86287025delAAG	ENST00000394518.2	+	36	8454_8456	c.8359_8361delAAG	c.(8359-8361)aagdel	p.K2788del	AKAP13_ENST00000361243.2_In_Frame_Del_p.K2792del|AKAP13_ENST00000394510.2_In_Frame_Del_p.K1033del|AKAP13_ENST00000560579.1_3'UTR	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	2788	Interaction with ESR1.|Poly-Lys.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						GGAGAAAAAAAAGAAGAACAAAA	0.527													8	48	---	---	---	---						-	86287025	AAG	-	86287023	7	5	497	1	0	1	0	1	0	0	0	0	446	15	1	0	8567	0	AKAP13	15	86287023	In_Frame_Del	DEL	AAG	TCGA-VM-A8CD-01A-11D-A36O-08	56725713	86287023	16244369	24	37836											
CACNG3	10368	broad.mit.edu	37	16	24373179	24373179	+	Missense_Mutation	SNP	G	G	A			TCGA-VM-A8CD-01A-11D-A36O-08	TCGA-VM-A8CD-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7928b2cc-7548-4b85-9107-a5462d1858db	18237653-5da7-42cf-8d0d-a2ba91a7e5ec	g.chr16:24373179G>A	ENST00000005284.3	+	4	2145	c.943G>A	c.(943-945)Gtc>Atc	p.V315I		NM_006539.3	NP_006530.1	O60359	CCG3_HUMAN	calcium channel, voltage-dependent, gamma subunit 3	315					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.V315I(2)		NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2)	40				GBM - Glioblastoma multiforme(48;0.0809)		CACCACGCCCGTCTGAACTGA	0.552													13	32					0	0	1	0	0	A	24373179	G	A	24373179	3	1	497	1	0	0	0	0	1	0	0	0	2576	1145	40	1	957	1	CACNG3	16	24373179	Missense_Mutation	SNP	G	TCGA-VM-A8CD-01A-11D-A36O-08		24373179	65981574	25	37837											
MYH1	4619	broad.mit.edu	37	17	10419305	10419305	+	Missense_Mutation	SNP	C	C	T			TCGA-VM-A8CD-01A-11D-A36O-08	TCGA-VM-A8CD-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7928b2cc-7548-4b85-9107-a5462d1858db	18237653-5da7-42cf-8d0d-a2ba91a7e5ec	g.chr17:10419305C>T	ENST00000226207.5	-	5	537	c.443G>A	c.(442-444)cGc>cAc	p.R148H	RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	148	Myosin head-like.					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	p.R148H(1)		NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						GGCCTCCTGGCGCTTTTTGCC	0.502													36	94					0	0	1	0	0	T	10419305	C	T	10419305	3	4	497	1	0	0	0	0	1	0	0	0	10077	768	27	1	5520	1	MYH1	17	10419305	Missense_Mutation	SNP	C	TCGA-VM-A8CD-01A-11D-A36O-08		10419305	70775905	26	37838											
NF1	4763	broad.mit.edu	37	17	29486037	29486037	+	Frame_Shift_Del	DEL	G	G	-			TCGA-VM-A8CD-01A-11D-A36O-08	TCGA-VM-A8CD-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7928b2cc-7548-4b85-9107-a5462d1858db	18237653-5da7-42cf-8d0d-a2ba91a7e5ec	g.chr17:29486037delG	ENST00000358273.4	+	3	597	c.214delG	c.(214-216)ggafs	p.G72fs	NF1_ENST00000356175.3_Frame_Shift_Del_p.G72fs|NF1_ENST00000431387.4_Frame_Shift_Del_p.G72fs	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	72					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		GAGAATATTTGGAGAAGCTGC	0.318			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			18	16	---	---	---	---						-	29486037	G	-	29486037	7	5	497	1	0	1	0	1	0	0	0	0	10403	1349	47	0	224	0	NF1	17	29486037	Frame_Shift_Del	DEL	G	TCGA-VM-A8CD-01A-11D-A36O-08	19066732	29486037	51709173	27	37839											
SPATA20	64847	broad.mit.edu	37	17	48631681	48631681	+	Missense_Mutation	SNP	C	C	T	rs147500920		TCGA-VM-A8CD-01A-11D-A36O-08	TCGA-VM-A8CD-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7928b2cc-7548-4b85-9107-a5462d1858db	18237653-5da7-42cf-8d0d-a2ba91a7e5ec	g.chr17:48631681C>T	ENST00000006658.6	+	15	2147	c.2027C>T	c.(2026-2028)aCg>aTg	p.T676M	SPATA20_ENST00000356488.4_Missense_Mutation_p.T660M|SPATA20_ENST00000393244.3_Missense_Mutation_p.T616M|SPATA20_ENST00000511937.1_3'UTR	NM_022827.3	NP_073738.2	Q8TB22	SPT20_HUMAN	spermatogenesis associated 20	660					cell differentiation|mannose metabolic process|multicellular organismal development|spermatogenesis	extracellular region	mannose-6-phosphate isomerase activity|protein binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;9.38e-09)			CATGGCTTCACGGGCCACAAG	0.642													3	40					0	0	1	0	0	T	48631681	C	T	48631681	3	4	497	1	0	0	0	0	1	0	0	0	15062	536	19	1	2085	1	SPATA20	17	48631681	Missense_Mutation	SNP	C	TCGA-VM-A8CD-01A-11D-A36O-08	19145644	48631681	32563529	28	37840											
LLGL2	3993	broad.mit.edu	37	17	73566103	73566103	+	Silent	SNP	C	C	T			TCGA-VM-A8CD-01A-11D-A36O-08	TCGA-VM-A8CD-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7928b2cc-7548-4b85-9107-a5462d1858db	18237653-5da7-42cf-8d0d-a2ba91a7e5ec	g.chr17:73566103C>T	ENST00000392550.3	+	15	1758	c.1641C>T	c.(1639-1641)gcC>gcT	p.A547A	LLGL2_ENST00000577200.1_Silent_p.A547A|LLGL2_ENST00000167462.5_Silent_p.A547A	NM_001031803.1	NP_001026973.1	Q6P1M3	L2GL2_HUMAN	lethal giant larvae homolog 2 (Drosophila)	547					cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity	cytoplasm|intracellular membrane-bounded organelle	PDZ domain binding			NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)			AGGTGGAGGCCGACCTGCTGC	0.667													9	31					0	0	1	0	0	T	73566103	C	T	73566103	2	4	497	1	0	0	0	0	0	0	0	1	8875	639	23	1		1	LLGL2	17	73566103	Silent	SNP	C	TCGA-VM-A8CD-01A-11D-A36O-08	24934422	73566103	7629107	29	37841											
PTPRM	5797	broad.mit.edu	37	18	8394606	8394606	+	Silent	SNP	C	C	G			TCGA-VM-A8CD-01A-11D-A36O-08	TCGA-VM-A8CD-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7928b2cc-7548-4b85-9107-a5462d1858db	18237653-5da7-42cf-8d0d-a2ba91a7e5ec	g.chr18:8394606C>G	ENST00000332175.8	+	30	5339	c.4302C>G	c.(4300-4302)ctC>ctG	p.L1434L	PTPRM_ENST00000400053.4_Silent_p.L1372L|PTPRM_ENST00000444013.1_Silent_p.L1221L|PTPRM_ENST00000400060.4_Silent_p.L1448L|PTPRM_ENST00000580170.1_Silent_p.L1447L	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	1434	Tyrosine-protein phosphatase 2.				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				TGGTCGACCTCCTGGTAGGAC	0.527													8	22					0	0	1	0	0	G	8394606	C	G	8394606	2	3	497	1	0	0	0	0	0	0	0	1	12858	842	30	5		5	PTPRM	18	8394606	Silent	SNP	C	TCGA-VM-A8CD-01A-11D-A36O-08		8394606	69682642	30	37842											
NR1H2	7376	broad.mit.edu	37	19	50882296	50882296	+	Missense_Mutation	SNP	C	C	T			TCGA-VM-A8CD-01A-11D-A36O-08	TCGA-VM-A8CD-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7928b2cc-7548-4b85-9107-a5462d1858db	18237653-5da7-42cf-8d0d-a2ba91a7e5ec	g.chr19:50882296C>T	ENST00000253727.5	+	7	1020	c.785C>T	c.(784-786)gCc>gTc	p.A262V	NR1H2_ENST00000542413.1_Intron|NR1H2_ENST00000599105.1_Intron|NR1H2_ENST00000593926.1_Missense_Mutation_p.A262V|NR1H2_ENST00000598168.1_Intron|NR1H2_ENST00000411902.2_Missense_Mutation_p.A165V	NM_007121.5	NP_009052	P55055	NR1H2_HUMAN	nuclear receptor subfamily 1, group H, member 2	262	Ligand-binding (Potential).				negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of lipid transport|negative regulation of pinocytosis|negative regulation of transcription, DNA-dependent|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of triglyceride biosynthetic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding			endometrium(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(2)	8		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186)		TCCCGAGATGCCCGCCAGCAA	0.632													4	122					0	0	1	0	0	T	50882296	C	T	50882296	3	4	497	1	0	0	0	0	1	0	0	0	10665	739	26	2	803	2	NR1H2	19	50882296	Missense_Mutation	SNP	C	TCGA-VM-A8CD-01A-11D-A36O-08		50882296	8246687	31	37843											
ZNFX1	57169	broad.mit.edu	37	20	47870232	47870232	+	Missense_Mutation	SNP	G	G	A			TCGA-VM-A8CD-01A-11D-A36O-08	TCGA-VM-A8CD-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7928b2cc-7548-4b85-9107-a5462d1858db	18237653-5da7-42cf-8d0d-a2ba91a7e5ec	g.chr20:47870232G>A	ENST00000396105.1	-	11	3322	c.3076C>T	c.(3076-3078)Cac>Tac	p.H1026Y	ZNFX1_ENST00000371754.4_Missense_Mutation_p.H1026Y|ZNFX1_ENST00000371752.1_Missense_Mutation_p.H1026Y	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	1026							metal ion binding			cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			AAAATGAGGTGCTGGCAAGCT	0.542													44	94					0	0	1	0	0	A	47870232	G	A	47870232	3	1	497	1	0	0	0	0	1	0	0	0	18247	1319	46	2	2696	2	ZNFX1	20	47870232	Missense_Mutation	SNP	G	TCGA-VM-A8CD-01A-11D-A36O-08		47870232	15155288	32	37844											
SON	6651	broad.mit.edu	37	21	34923110	34923110	+	Missense_Mutation	SNP	C	C	T			TCGA-VM-A8CD-01A-11D-A36O-08	TCGA-VM-A8CD-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7928b2cc-7548-4b85-9107-a5462d1858db	18237653-5da7-42cf-8d0d-a2ba91a7e5ec	g.chr21:34923110C>T	ENST00000356577.4	+	3	2048	c.1573C>T	c.(1573-1575)Cct>Tct	p.P525S	SON_ENST00000381692.2_Intron|SON_ENST00000290239.6_Missense_Mutation_p.P525S|SON_ENST00000300278.4_Missense_Mutation_p.P525S|SON_ENST00000381679.4_Missense_Mutation_p.P525S	NM_138927.1	NP_620305	P18583	SON_HUMAN	SON DNA binding protein	525					anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding			breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						GGTGGAACATCCTGGGCATCC	0.597													49	98					0	0	1	0	0	T	34923110	C	T	34923110	3	4	497	1	0	0	0	0	1	0	0	0	14980	855	30	2	1583	2	SON	21	34923110	Missense_Mutation	SNP	C	TCGA-VM-A8CD-01A-11D-A36O-08		34923110	13206785	33	37845											
SAP130	79595	broad.mit.edu	37	2	128744415	128744415	+	Silent	SNP	G	G	C			TCGA-VM-A8CE-01A-11D-A36O-08	TCGA-VM-A8CE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43493bad-ec4b-422b-a8e0-ee8c5de1dbcb	8b0c047a-6768-4336-bb15-57d2fa140a0c	g.chr2:128744415G>C	ENST00000357702.5	-	14	2111	c.1980C>G	c.(1978-1980)ccC>ccG	p.P660P	SAP130_ENST00000259235.3_Silent_p.P660P|SAP130_ENST00000259234.6_Silent_p.P633P	NM_001145928.1	NP_001139400.1	Q9H0E3	SP130_HUMAN	Sin3A-associated protein, 130kDa	660					histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity			NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		AGCCCTGGGCGGGAGCGTTGG	0.572													28	66					0	0	1	0	0	C	128744415	G	C	128744415	2	2	498	1	0	0	0	0	0	0	0	1	13883	1103	39	5		5	SAP130	2	128744415	Silent	SNP	G	TCGA-VM-A8CE-01A-11D-A36O-08		128744415	114454958	1	37846											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-VM-A8CE-01A-11D-A36O-08	TCGA-VM-A8CE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43493bad-ec4b-422b-a8e0-ee8c5de1dbcb	8b0c047a-6768-4336-bb15-57d2fa140a0c	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	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								26	71					0	0	1	0	0	T	209113112	C	T	209113112	3	4	498	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-VM-A8CE-01A-11D-A36O-08	80368697	209113112	34086261	2	37847											
PCDH10	57575	broad.mit.edu	37	4	134072585	134072585	+	Silent	SNP	C	C	A	rs140875995		TCGA-VM-A8CE-01A-11D-A36O-08	TCGA-VM-A8CE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43493bad-ec4b-422b-a8e0-ee8c5de1dbcb	8b0c047a-6768-4336-bb15-57d2fa140a0c	g.chr4:134072585C>A	ENST00000264360.5	+	1	2116	c.1290C>A	c.(1288-1290)acC>acA	p.T430T		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10		Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		ACTCCTACACCCTGACTGTAG	0.587													12	139					9.05144e-12	9.76603e-12	1	1	0	A	134072585	C	A	134072585	2	1	498	1	0	0	0	0	0	0	0	1	11554	610	22	5		5	PCDH10	4	134072585	Silent	SNP	C	TCGA-VM-A8CE-01A-11D-A36O-08		134072585	57081691	3	37848											
CMYA5	202333	broad.mit.edu	37	5	79029294	79029294	+	Nonsense_Mutation	SNP	C	C	A			TCGA-VM-A8CE-01A-11D-A36O-08	TCGA-VM-A8CE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43493bad-ec4b-422b-a8e0-ee8c5de1dbcb	8b0c047a-6768-4336-bb15-57d2fa140a0c	g.chr5:79029294C>A	ENST00000446378.2	+	2	4737	c.4706C>A	c.(4705-4707)tCa>tAa	p.S1569*		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	1569						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		ACAGCAAGTTCATCTCCTGAG	0.408													5	130					1	1	1	1	0	A	79029294	C	A	79029294	4	1	498	1	0	0	0	0	0	1	0	0	3613	838	29	5	4712	5	CMYA5	5	79029294	Nonsense_Mutation	SNP	C	TCGA-VM-A8CE-01A-11D-A36O-08		79029294	101885966	4	37849											
MAP3K4	4216	broad.mit.edu	37	6	161530825	161530825	+	Silent	SNP	G	G	A			TCGA-VM-A8CE-01A-11D-A36O-08	TCGA-VM-A8CE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43493bad-ec4b-422b-a8e0-ee8c5de1dbcb	8b0c047a-6768-4336-bb15-57d2fa140a0c	g.chr6:161530825G>A	ENST00000392142.4	+	23	4423	c.4275G>A	c.(4273-4275)ggG>ggA	p.G1425G	MAP3K4_ENST00000366919.2_Silent_p.G1375G|MAP3K4_ENST00000366920.2_Silent_p.G1421G|MAP3K4_ENST00000348824.7_Silent_p.G1371G	NM_005922.2	NP_005913	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	1425	Protein kinase.				activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		GCGATGAGGGGACTTTAGAAG	0.463													22	47					0	0	1	0	0	A	161530825	G	A	161530825	2	1	498	1	0	0	0	0	0	0	0	1	9302	1161	41	2		2	MAP3K4	6	161530825	Silent	SNP	G	TCGA-VM-A8CE-01A-11D-A36O-08		161530825	9584242	5	37850											
TRPM6	140803	broad.mit.edu	37	9	77442828	77442828	+	Missense_Mutation	SNP	C	C	T			TCGA-VM-A8CE-01A-11D-A36O-08	TCGA-VM-A8CE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43493bad-ec4b-422b-a8e0-ee8c5de1dbcb	8b0c047a-6768-4336-bb15-57d2fa140a0c	g.chr9:77442828C>T	ENST00000451710.3	-	7	944	c.707G>A	c.(706-708)aGc>aAc	p.S236N	TRPM6_ENST00000376871.3_Missense_Mutation_p.S236N|TRPM6_ENST00000376864.4_Missense_Mutation_p.S236N|TRPM6_ENST00000360774.1_Missense_Mutation_p.S236N|TRPM6_ENST00000376872.3_Missense_Mutation_p.S236N|TRPM6_ENST00000483186.1_5'UTR|TRPM6_ENST00000359047.2_Missense_Mutation_p.S236N|TRPM6_ENST00000361255.3_Missense_Mutation_p.S231N|TRPM6_ENST00000449912.2_Missense_Mutation_p.S231N			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	236					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						TGTGAGCTTGCTGAGGGGGTT	0.537													20	44					0	0	1	0	0	T	77442828	C	T	77442828	3	4	498	1	0	0	0	0	1	0	0	0	16651	797	28	2	5493	2	TRPM6	9	77442828	Missense_Mutation	SNP	C	TCGA-VM-A8CE-01A-11D-A36O-08		77442828	63770603	6	37851											
SVEP1	79987	broad.mit.edu	37	9	113170819	113170819	+	Missense_Mutation	SNP	A	A	G			TCGA-VM-A8CE-01A-11D-A36O-08	TCGA-VM-A8CE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43493bad-ec4b-422b-a8e0-ee8c5de1dbcb	8b0c047a-6768-4336-bb15-57d2fa140a0c	g.chr9:113170819A>G	ENST00000401783.2	-	38	7397	c.7061T>C	c.(7060-7062)gTc>gCc	p.V2354A	SVEP1_ENST00000297826.5_Missense_Mutation_p.V280A|SVEP1_ENST00000374469.1_Missense_Mutation_p.V2331A	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	2354	Sushi 16.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						GCCTTGCAGGACATGCCCTTC	0.498													9	23					0	0	1	0	0	G	113170819	A	G	113170819	3	3	498	1	0	0	0	0	1	0	0	0	15476	275	10	3	3698	3	SVEP1	9	113170819	Missense_Mutation	SNP	A	TCGA-VM-A8CE-01A-11D-A36O-08	35727991	113170819	28042612	7	37852											
DIP2C	22982	broad.mit.edu	37	10	436251	436251	+	Missense_Mutation	SNP	A	A	T			TCGA-VM-A8CE-01A-11D-A36O-08	TCGA-VM-A8CE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43493bad-ec4b-422b-a8e0-ee8c5de1dbcb	8b0c047a-6768-4336-bb15-57d2fa140a0c	g.chr10:436251A>T	ENST00000280886.6	-	12	1534	c.1447T>A	c.(1447-1449)Tgg>Agg	p.W483R	DIP2C_ENST00000381496.3_Missense_Mutation_p.W376R	NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	483						nucleus	catalytic activity|transcription factor binding			breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		TGTGGGAACCAGTCTCGGGGC	0.483													3	82					0	0	1	0	0	T	436251	A	T	436251	3	4	498	1	0	0	0	0	1	0	0	0	4557	188	7	5	3327	5	DIP2C	10	436251	Missense_Mutation	SNP	A	TCGA-VM-A8CE-01A-11D-A36O-08		436251	135098496	8	37853											
OR5M1	390168	broad.mit.edu	37	11	56380102	56380102	+	Missense_Mutation	SNP	G	G	A			TCGA-VM-A8CE-01A-11D-A36O-08	TCGA-VM-A8CE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43493bad-ec4b-422b-a8e0-ee8c5de1dbcb	8b0c047a-6768-4336-bb15-57d2fa140a0c	g.chr11:56380102G>A	ENST00000526538.1	-	1	876	c.877C>T	c.(877-879)Cgg>Tgg	p.R293W		NM_001004740.1	NP_001004740.1	Q8NGP8	OR5M1_HUMAN	olfactory receptor, family 5, subfamily M, member 1	293					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|upper_aerodigestive_tract(1)	12						TCTGTGTTCCGTAGGCTATAG	0.403													10	170					0	0	1	0	0	A	56380102	G	A	56380102	3	1	498	1	0	0	0	0	1	0	0	0	11219	1144	40	1	74	1	OR5M1	11	56380102	Missense_Mutation	SNP	G	TCGA-VM-A8CE-01A-11D-A36O-08		56380102	78626414	9	37854											
EI24	9538	broad.mit.edu	37	11	125453434	125453434	+	Missense_Mutation	SNP	C	C	G			TCGA-VM-A8CE-01A-11D-A36O-08	TCGA-VM-A8CE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43493bad-ec4b-422b-a8e0-ee8c5de1dbcb	8b0c047a-6768-4336-bb15-57d2fa140a0c	g.chr11:125453434C>G	ENST00000343678.4	+	11	1006	c.764C>G	c.(763-765)tCt>tGt	p.S255C	STT3A-AS1_ENST00000532714.1_RNA|EI24_ENST00000278903.6_Silent_p.L292L|STT3A-AS1_ENST00000530526.1_RNA|EI24_ENST00000530985.1_3'UTR	NM_001007277.1	NP_001007278.1	O14681	EI24_HUMAN	etoposide induced 2.4	0					apoptosis|autophagy|induction of apoptosis|negative regulation of cell growth	endoplasmic reticulum membrane|integral to membrane|nuclear membrane				large_intestine(1)|lung(9)|ovary(1)	11	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.64e-07)|OV - Ovarian serous cystadenocarcinoma(99;0.0975)		AGTTGCGCCTCTTCTCCTTGG	0.448													6	13					0	0	1	0	0	G	125453434	C	G	125453434	3	3	498	1	0	0	0	0	1	0	0	0	5011	913	32	4	916	4	EI24	11	125453434	Missense_Mutation	SNP	C	TCGA-VM-A8CE-01A-11D-A36O-08	69073332	125453434	9553082	10	37855											
NBEA	26960	broad.mit.edu	37	13	35738505	35738505	+	Missense_Mutation	SNP	G	G	T			TCGA-VM-A8CE-01A-11D-A36O-08	TCGA-VM-A8CE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43493bad-ec4b-422b-a8e0-ee8c5de1dbcb	8b0c047a-6768-4336-bb15-57d2fa140a0c	g.chr13:35738505G>T	ENST00000540320.1	+	24	4626	c.4092G>T	c.(4090-4092)aaG>aaT	p.K1364N	NBEA_ENST00000310336.4_Missense_Mutation_p.K1364N|NBEA_ENST00000400445.3_Missense_Mutation_p.K1364N|NBEA_ENST00000379939.2_Missense_Mutation_p.K1364N			Q8NFP9	NBEA_HUMAN	neurobeachin	1364						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		ATTCTACAAAGTCTGTAATGG	0.289													3	11					0.004672	0.00491159	1	1	0	T	35738505	G	T	35738505	3	4	498	1	0	0	0	0	1	0	0	0	10235	1020	36	4	4186	4	NBEA	13	35738505	Missense_Mutation	SNP	G	TCGA-VM-A8CE-01A-11D-A36O-08		35738505	79431373	11	37856											
PRSS53	339105	broad.mit.edu	37	16	31098181	31098181	+	Missense_Mutation	SNP	A	A	G			TCGA-VM-A8CE-01A-11D-A36O-08	TCGA-VM-A8CE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43493bad-ec4b-422b-a8e0-ee8c5de1dbcb	8b0c047a-6768-4336-bb15-57d2fa140a0c	g.chr16:31098181A>G	ENST00000280606.6	-	4	434	c.281T>C	c.(280-282)cTg>cCg	p.L94P		NM_001039503.2	NP_001034592.1	Q2L4Q9	PRS53_HUMAN	protease, serine, 53	94	Peptidase S1 1.				proteolysis	extracellular region	serine-type endopeptidase activity			large_intestine(1)|lung(3)	4						CAGAGAACCCAGGACCACTGA	0.612													3	44					0	0	1	0	0	G	31098181	A	G	31098181	3	3	498	1	0	0	0	0	1	0	0	0	12681	188	7	3	1412	3	PRSS53	16	31098181	Missense_Mutation	SNP	A	TCGA-VM-A8CE-01A-11D-A36O-08		31098181	59256572	12	37857											
NAE1	8883	broad.mit.edu	37	16	66842495	66842495	+	Missense_Mutation	SNP	T	T	A			TCGA-VM-A8CE-01A-11D-A36O-08	TCGA-VM-A8CE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43493bad-ec4b-422b-a8e0-ee8c5de1dbcb	8b0c047a-6768-4336-bb15-57d2fa140a0c	g.chr16:66842495T>A	ENST00000379463.2	-	18	1433	c.1241A>T	c.(1240-1242)gAt>gTt	p.D414V	NAE1_ENST00000359087.4_Missense_Mutation_p.D423V|NAE1_ENST00000394074.2_Missense_Mutation_p.D331V|NAE1_ENST00000290810.3_Missense_Mutation_p.D420V	NM_001018159.1	NP_001018169.1	Q13564	ULA1_HUMAN	NEDD8 activating enzyme E1 subunit 1	420					apoptosis|cell cycle|DNA replication|mitotic cell cycle DNA replication checkpoint|protein neddylation|signal transduction	cytoplasm|insoluble fraction|plasma membrane	catalytic activity|protein heterodimerization activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0914)|Epithelial(162;0.214)	Adenosine triphosphate(DB00171)	TATTTCATTATCTGGATTGTC	0.308													21	134					0	0	1	0	0	A	66842495	T	A	66842495	3	1	498	1	0	0	0	0	1	0	0	0	10187	1435	50	4	361	4	NAE1	16	66842495	Missense_Mutation	SNP	T	TCGA-VM-A8CE-01A-11D-A36O-08	35744314	66842495	23512258	13	37858											
ZNF554	115196	broad.mit.edu	37	19	2834829	2834829	+	Missense_Mutation	SNP	C	C	G			TCGA-VM-A8CE-01A-11D-A36O-08	TCGA-VM-A8CE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43493bad-ec4b-422b-a8e0-ee8c5de1dbcb	8b0c047a-6768-4336-bb15-57d2fa140a0c	g.chr19:2834829C>G	ENST00000317243.5	+	5	1794	c.1596C>G	c.(1594-1596)aaC>aaG	p.N532K		NM_001102651.1	NP_001096121.1	Q86TJ5	ZN554_HUMAN	zinc finger protein 554	532					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(3)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	23		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)		TCTACCAGAACAGACATCTTA	0.423													27	62					0	0	1	0	0	G	2834829	C	G	2834829	3	3	498	1	0	0	0	0	1	0	0	0	18042	477	17	5	1614	5	ZNF554	19	2834829	Missense_Mutation	SNP	C	TCGA-VM-A8CE-01A-11D-A36O-08		2834829	56294154	14	37859											
MUC16	94025	broad.mit.edu	37	19	9064360	9064360	+	Missense_Mutation	SNP	C	C	T			TCGA-VM-A8CE-01A-11D-A36O-08	TCGA-VM-A8CE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43493bad-ec4b-422b-a8e0-ee8c5de1dbcb	8b0c047a-6768-4336-bb15-57d2fa140a0c	g.chr19:9064360C>T	ENST00000397910.4	-	3	23289	c.23086G>A	c.(23086-23088)Gtg>Atg	p.V7696M		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7698	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.V7696M(2)|p.V3329M(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGTGAGGTCACGGCAGGTAAA	0.582													5	73					0	0	1	0	0	T	9064360	C	T	9064360	3	4	498	1	0	0	0	0	1	0	0	0	10021	536	19	1	20765	1	MUC16	19	9064360	Missense_Mutation	SNP	C	TCGA-VM-A8CE-01A-11D-A36O-08	6229531	9064360	50064623	15	37860											
DCAF15	90379	broad.mit.edu	37	19	14066828	14066828	+	Missense_Mutation	SNP	C	C	G			TCGA-VM-A8CE-01A-11D-A36O-08	TCGA-VM-A8CE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43493bad-ec4b-422b-a8e0-ee8c5de1dbcb	8b0c047a-6768-4336-bb15-57d2fa140a0c	g.chr19:14066828C>G	ENST00000254337.6	+	4	492	c.471C>G	c.(469-471)ttC>ttG	p.F157L		NM_138353.2	NP_612362.2	Q66K64	DCA15_HUMAN	DDB1 and CUL4 associated factor 15	157										breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)	11						TCTTCGGCTTCAAGTGAGACC	0.662													3	55					0	0	1	0	0	G	14066828	C	G	14066828	3	3	498	1	0	0	0	0	1	0	0	0	4291	825	29	5	485	5	DCAF15	19	14066828	Missense_Mutation	SNP	C	TCGA-VM-A8CE-01A-11D-A36O-08	5002468	14066828	45062155	16	37861											
CIC	23152	broad.mit.edu	37	19	42791718	42791718	+	Missense_Mutation	SNP	C	C	T			TCGA-VM-A8CE-01A-11D-A36O-08	TCGA-VM-A8CE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43493bad-ec4b-422b-a8e0-ee8c5de1dbcb	8b0c047a-6768-4336-bb15-57d2fa140a0c	g.chr19:42791718C>T	ENST00000572681.2	+	6	3399	c.3331C>T	c.(3331-3333)Cgg>Tgg	p.R1111W	CIC_ENST00000160740.3_Missense_Mutation_p.R202W|CIC_ENST00000575354.2_Missense_Mutation_p.R202W			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	202	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	p.R202W(1)		autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CCACATCCGGCGGCCCATGAA	0.622			"Mis, F, S"		oligodendroglioma								6	29					0	0	1	0	0	T	42791718	C	T	42791718	3	4	498	1	0	0	0	0	1	0	0	0	3446	759	27	1	622	1	CIC	19	42791718	Missense_Mutation	SNP	C	TCGA-VM-A8CE-01A-11D-A36O-08	28724890	42791718	16337265	17	37862			1	57		3	2	40	N	G_C	2.393632e-05
CIC	23152	broad.mit.edu	37	19	42791752	42791752	+	Missense_Mutation	SNP	G	G	C			TCGA-VM-A8CE-01A-11D-A36O-08	TCGA-VM-A8CE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43493bad-ec4b-422b-a8e0-ee8c5de1dbcb	8b0c047a-6768-4336-bb15-57d2fa140a0c	g.chr19:42791752G>C	ENST00000572681.2	+	6	3433	c.3365G>C	c.(3364-3366)cGg>cCg	p.R1122P	CIC_ENST00000160740.3_Missense_Mutation_p.R213P|CIC_ENST00000575354.2_Missense_Mutation_p.R213P			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	213	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	p.R213P(1)		autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				TTCAGCAAGCGGCACCGGGCC	0.617			"Mis, F, S"		oligodendroglioma								8	37					0	0	1	0	0	C	42791752	G	C	42791752	3	2	498	1	0	0	0	0	1	0	0	0	3446	1116	39	5	656	5	CIC	19	42791752	Missense_Mutation	SNP	G	TCGA-VM-A8CE-01A-11D-A36O-08	34	42791752	16337231	18	37863	153	2	1	57		3	2	40	N	G_C	2.393632e-05
CIC	23152	broad.mit.edu	37	19	42791757	42791757	+	Missense_Mutation	SNP	C	C	T			TCGA-VM-A8CE-01A-11D-A36O-08	TCGA-VM-A8CE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43493bad-ec4b-422b-a8e0-ee8c5de1dbcb	8b0c047a-6768-4336-bb15-57d2fa140a0c	g.chr19:42791757C>T	ENST00000572681.2	+	6	3438	c.3370C>T	c.(3370-3372)Cgg>Tgg	p.R1124W	CIC_ENST00000160740.3_Missense_Mutation_p.R215W|CIC_ENST00000575354.2_Missense_Mutation_p.R215W			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	215	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	p.R215W(4)		autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CAAGCGGCACCGGGCCCTGGT	0.612			"Mis, F, S"		oligodendroglioma								6	41					0	0	1	0	0	T	42791757	C	T	42791757	3	4	498	1	0	0	0	0	1	0	0	0	3446	643	23	1	661	1	CIC	19	42791757	Missense_Mutation	SNP	C	TCGA-VM-A8CE-01A-11D-A36O-08	5	42791757	16337226	19	37864	153	2	1	57		3	2	40	N	G_C	2.393632e-05
BAGE2	85319	broad.mit.edu	37	21	11085429	11085431	+	RNA	DEL	ACC	ACC	-			TCGA-VM-A8CE-01A-11D-A36O-08	TCGA-VM-A8CE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43493bad-ec4b-422b-a8e0-ee8c5de1dbcb	8b0c047a-6768-4336-bb15-57d2fa140a0c	g.chr21:11085429_11085431delACC	ENST00000470054.1	-	0	324									B melanoma antigen family, member 2															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)		caccaccactaccaccaccacca	0.507													2	4	---	---	---	---						-	11085431	ACC	-	11085429	6	5	498	0	1	1	0	1	0	0	0	0	1290	406	14	0		0	BAGE2	21	11085429	RNA	DEL	ACC	TCGA-VM-A8CE-01A-11D-A36O-08		11085429	37044466	20	37865											
FLG	2312	broad.mit.edu	37	1	152276230	152276230	+	Missense_Mutation	SNP	A	A	G			TCGA-VM-A8CF-01A-11D-A36O-08	TCGA-VM-A8CF-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b57c2436-ff10-457e-8631-388a14287caf	385cb50e-62eb-4818-961b-d2633df5debf	g.chr1:152276230A>G	ENST00000368799.1	-	3	11167	c.11132T>C	c.(11131-11133)cTc>cCc	p.L3711P	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3711	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CACCTGGTAGAGGAAAGACCC	0.617									Ichthyosis				95	171					0	0	1	0	0	G	152276230	A	G	152276230	3	3	499	1	0	0	0	0	1	0	0	0	5955	304	11	3	1057	3	FLG	1	152276230	Missense_Mutation	SNP	A	TCGA-VM-A8CF-01A-11D-A36O-08		152276230	96974391	1	37866											
CD1E	913	broad.mit.edu	37	1	158325645	158325645	+	Silent	SNP	C	C	T			TCGA-VM-A8CF-01A-11D-A36O-08	TCGA-VM-A8CF-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b57c2436-ff10-457e-8631-388a14287caf	385cb50e-62eb-4818-961b-d2633df5debf	g.chr1:158325645C>T	ENST00000444681.2	+	3	650	c.357C>T	c.(355-357)ggC>ggT	p.G119G	CD1E_ENST00000368154.1_Silent_p.G29G|CD1E_ENST00000368160.3_Silent_p.G218G|CD1E_ENST00000368161.3_Silent_p.G218G|CD1E_ENST00000452291.2_Silent_p.G29G|CD1E_ENST00000368165.3_Silent_p.G128G|CD1E_ENST00000368157.1_Silent_p.G29G|CD1E_ENST00000368167.3_Silent_p.G218G|CD1E_ENST00000368155.3_Silent_p.G128G|CD1E_ENST00000368156.1_Silent_p.G128G|CD1E_ENST00000368164.3_Silent_p.G29G|CD1E_ENST00000368166.3_Silent_p.G29G|CD1E_ENST00000434258.1_Silent_p.G216G|CD1E_ENST00000368163.3_Silent_p.G218G	NM_001185114.1	NP_001172043.1	P15812	CD1E_HUMAN	CD1e molecule	218					antigen processing and presentation|immune response	early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen				breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					TGTCCTGTGGCCCCAGTCCTG	0.572													12	46					0	0	1	0	0	T	158325645	C	T	158325645	2	4	499	1	0	0	0	0	0	0	0	1	3000	726	26	2		2	CD1E	1	158325645	Silent	SNP	C	TCGA-VM-A8CF-01A-11D-A36O-08	6049415	158325645	90924976	2	37867											
OR10J5	127385	broad.mit.edu	37	1	159505100	159505100	+	Missense_Mutation	SNP	C	C	T	rs141462119		TCGA-VM-A8CF-01A-11D-A36O-08	TCGA-VM-A8CF-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b57c2436-ff10-457e-8631-388a14287caf	385cb50e-62eb-4818-961b-d2633df5debf	g.chr1:159505100C>T	ENST00000334857.2	-	1	742	c.698G>A	c.(697-699)cGg>cAg	p.R233Q		NM_001004469.1	NP_001004469.1	Q8NHC4	O10J5_HUMAN	olfactory receptor, family 10, subfamily J, member 5	233			R -> W (in dbSNP:rs35393723).		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	22	all_hematologic(112;0.0429)					GGTCTTCTTCCGGCCCTCAGC	0.483													13	44					0	0	1	0	0	T	159505100	C	T	159505100	3	4	499	1	0	0	0	0	1	0	0	0	10960	652	23	1	233	1	OR10J5	1	159505100	Missense_Mutation	SNP	C	TCGA-VM-A8CF-01A-11D-A36O-08	1179455	159505100	89745521	3	37868											
RGS13	6003	broad.mit.edu	37	1	192628531	192628531	+	Missense_Mutation	SNP	T	T	A			TCGA-VM-A8CF-01A-11D-A36O-08	TCGA-VM-A8CF-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b57c2436-ff10-457e-8631-388a14287caf	385cb50e-62eb-4818-961b-d2633df5debf	g.chr1:192628531T>A	ENST00000391995.2	+	7	646	c.358T>A	c.(358-360)Tgt>Agt	p.C120S	RGS13_ENST00000543215.1_Missense_Mutation_p.C120S|RGS13_ENST00000482095.1_3'UTR	NM_002927.4	NP_002918.1	O14921	RGS13_HUMAN	regulator of G-protein signaling 13	120	RGS.					plasma membrane	GTPase activator activity|signal transducer activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|skin(1)	19						CACTGAAACATGTTTTGAAGA	0.348													11	47					0	0	1	0	0	A	192628531	T	A	192628531	3	1	499	1	0	0	0	0	1	0	0	0	13346	1464	51	4	372	4	RGS13	1	192628531	Missense_Mutation	SNP	T	TCGA-VM-A8CF-01A-11D-A36O-08	33123431	192628531	56622090	4	37869											
CD46	4179	broad.mit.edu	37	1	207930905	207930905	+	Missense_Mutation	SNP	C	C	T			TCGA-VM-A8CF-01A-11D-A36O-08	TCGA-VM-A8CF-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b57c2436-ff10-457e-8631-388a14287caf	385cb50e-62eb-4818-961b-d2633df5debf	g.chr1:207930905C>T	ENST00000358170.2	+	3	463	c.307C>T	c.(307-309)Cgg>Tgg	p.R103W	CD46_ENST00000322918.5_Missense_Mutation_p.R103W|CD46_ENST00000322875.4_Missense_Mutation_p.R103W|CD46_ENST00000357714.1_Missense_Mutation_p.R103W|CD46_ENST00000354848.1_Missense_Mutation_p.R103W|CD46_ENST00000469535.1_3'UTR|CD46_ENST00000361067.1_Missense_Mutation_p.R103W|CD46_ENST00000367047.1_Missense_Mutation_p.R40W|CD46_ENST00000480003.1_Missense_Mutation_p.R103W|CD46_ENST00000360212.2_Missense_Mutation_p.R103W|CD46_ENST00000367042.1_Missense_Mutation_p.R103W|CD46_ENST00000367041.1_Missense_Mutation_p.R103W|CD46_ENST00000441839.2_Missense_Mutation_p.R103W	NM_002389.4	NP_002380.3	P15529	MCP_HUMAN	CD46 molecule, complement regulatory protein	103	Sushi 2.				complement activation, classical pathway|innate immune response|interspecies interaction between organisms|single fertilization	inner acrosomal membrane|integral to plasma membrane	protein binding|receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	19						TCCATATATACGGGATCCTTT	0.363													6	32					0	0	1	0	0	T	207930905	C	T	207930905	3	4	499	1	0	0	0	0	1	0	0	0	3040	527	19	1	317	1	CD46	1	207930905	Missense_Mutation	SNP	C	TCGA-VM-A8CF-01A-11D-A36O-08	15302374	207930905	41319716	5	37870											
AGT	183	broad.mit.edu	37	1	230845898	230845898	+	Silent	SNP	C	C	A			TCGA-VM-A8CF-01A-11D-A36O-08	TCGA-VM-A8CF-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b57c2436-ff10-457e-8631-388a14287caf	385cb50e-62eb-4818-961b-d2633df5debf	g.chr1:230845898C>A	ENST00000366667.4	-	2	913	c.699G>T	c.(697-699)gtG>gtT	p.V233V		NM_000029.3	NP_000020.1	P01019	ANGT_HUMAN	angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	233					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|blood vessel remodeling|cell-cell signaling|cellular lipid metabolic process|G-protein signaling, coupled to cGMP nucleotide second messenger|kidney development|low-density lipoprotein particle remodeling|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of activation of JAK2 kinase activity|positive regulation of apoptosis|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of cardiac muscle hypertrophy|positive regulation of cholesterol esterification|positive regulation of cytokine production|positive regulation of endothelial cell migration|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of fibroblast proliferation|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein tyrosine kinase activity|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription, DNA-dependent|regulation of proteolysis|regulation of renal output by angiotensin|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|response to muscle activity involved in regulation of muscle adaptation	extracellular space|soluble fraction	acetyltransferase activator activity|growth factor activity|hormone activity|serine-type endopeptidase inhibitor activity|type 1 angiotensin receptor binding|type 2 angiotensin receptor binding			endometrium(5)|kidney(1)|large_intestine(6)|lung(7)|pancreas(1)|prostate(5)	25	Breast(184;0.0735)|Ovarian(103;0.183)	all_cancers(173;4.64e-23)|all_epithelial(177;3.61e-18)|Breast(1374;0.00093)|all_neural(198;0.0604)|Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;4.4e-06)|Colorectal(1306;5.46e-06)|COAD - Colon adenocarcinoma(196;0.000256)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	Aliskiren(DB01258)|Atorvastatin(DB01076)|Cilazapril(DB01340)|Irbesartan(DB01029)|Lisinopril(DB00722)|Ouabain(DB01092)|Simvastatin(DB00641)	GTGGGAGGACCACAGGGGTAT	0.602													9	62					1.33987e-11	1.43558e-11	1	1	0	A	230845898	C	A	230845898	2	1	499	1	0	0	0	0	0	0	0	1	396	581	21	5		5	AGT	1	230845898	Silent	SNP	C	TCGA-VM-A8CF-01A-11D-A36O-08	22914993	230845898	18404723	6	37871											
GCKR	2646	broad.mit.edu	37	2	27722069	27722071	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-VM-A8CF-01A-11D-A36O-08	TCGA-VM-A8CF-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b57c2436-ff10-457e-8631-388a14287caf	385cb50e-62eb-4818-961b-d2633df5debf	g.chr2:27722069_27722071delGAA	ENST00000264717.2	+	6	552_554	c.489_491delGAA	c.(487-492)ctgaag>ctg	p.K165del	GCKR_ENST00000424318.2_Intron	NM_001486.3	NP_001477.2	Q14397	GCKR_HUMAN	glucokinase (hexokinase 4) regulator	165	SIS 1.				carbohydrate metabolic process|glucose transport|negative regulation of glucokinase activity|positive regulation of gene expression|protein import into nucleus, translocation|regulation of glucose transport|response to fructose stimulus|transmembrane transport|triglyceride homeostasis|urate metabolic process	cytosol|nucleoplasm	fructose-6-phosphate binding|protein binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(2)	29	Acute lymphoblastic leukemia(172;0.155)					TTGAGGAACTGAAGAAGGTCTGT	0.512													10	53	---	---	---	---						-	27722071	GAA	-	27722069	7	5	499	1	0	1	0	1	0	0	0	0	6334	1277	45	0	511	0	GCKR	2	27722069	In_Frame_Del	DEL	GAA	TCGA-VM-A8CF-01A-11D-A36O-08		27722069	215477304	7	37872											
CHRNA1	1134	broad.mit.edu	37	2	175619022	175619022	+	Silent	SNP	A	A	G			TCGA-VM-A8CF-01A-11D-A36O-08	TCGA-VM-A8CF-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b57c2436-ff10-457e-8631-388a14287caf	385cb50e-62eb-4818-961b-d2633df5debf	g.chr2:175619022A>G	ENST00000348749.5	-	5	542	c.465T>C	c.(463-465)ttT>ttC	p.F155F	CHRNA1_ENST00000409323.1_Silent_p.F155F|CHRNA1_ENST00000409542.1_Intron|CHRNA1_ENST00000409219.1_Silent_p.F155F|AC018890.6_ENST00000442996.1_RNA|CHRNA1_ENST00000261007.5_Silent_p.F180F	NM_000079.3	NP_000070.1	P02708	ACHA_HUMAN	cholinergic receptor, nicotinic, alpha 1 (muscle)	180					muscle cell homeostasis|neuromuscular junction development|neuromuscular process|neuromuscular synaptic transmission|neuron homeostasis|regulation of action potential in neuron|skeletal muscle contraction|skeletal muscle tissue growth	cell junction|cell surface|neuromuscular junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(3)|prostate(3)|skin(4)	37						CATCAAAGGGAAAGTGGGTGA	0.522													19	24					0	0	1	0	0	G	175619022	A	G	175619022	2	3	499	1	0	0	0	0	0	0	0	1	3403	243	9	3		3	CHRNA1	2	175619022	Silent	SNP	A	TCGA-VM-A8CF-01A-11D-A36O-08	147896953	175619022	67580351	8	37873											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-VM-A8CF-01A-11D-A36O-08	TCGA-VM-A8CF-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b57c2436-ff10-457e-8631-388a14287caf	385cb50e-62eb-4818-961b-d2633df5debf	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								28	33					0	0	1	0	0	T	209113112	C	T	209113112	3	4	499	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-VM-A8CF-01A-11D-A36O-08	33494090	209113112	34086261	9	37874											
FAM19A4	151647	broad.mit.edu	37	3	68788283	68788283	+	Silent	SNP	C	C	G			TCGA-VM-A8CF-01A-11D-A36O-08	TCGA-VM-A8CF-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b57c2436-ff10-457e-8631-388a14287caf	385cb50e-62eb-4818-961b-d2633df5debf	g.chr3:68788283C>G	ENST00000295569.7	-	5	846	c.354G>C	c.(352-354)gtG>gtC	p.V118V		NM_001005527.2|NM_182522.4	NP_001005527.1|NP_872328.1	Q96LR4	F19A4_HUMAN	family with sequence similarity 19 (chemokine (C-C motif)-like), member A4	118						extracellular region				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(5)|skin(2)	10		Lung NSC(201;0.0198)		BRCA - Breast invasive adenocarcinoma(55;1.38e-05)|Epithelial(33;0.000124)|LUSC - Lung squamous cell carcinoma(21;0.0248)|KIRC - Kidney renal clear cell carcinoma(39;0.0729)|Kidney(39;0.0904)		AATCTGGCAGCACTTTACAAT	0.393													55	79					0	0	1	0	0	G	68788283	C	G	68788283	2	3	499	1	0	0	0	0	0	0	0	1	5566	697	25	5		5	FAM19A4	3	68788283	Silent	SNP	C	TCGA-VM-A8CF-01A-11D-A36O-08		68788283	129234147	10	37875											
EPHA3	2042	broad.mit.edu	37	3	89390920	89390920	+	Missense_Mutation	SNP	C	C	A			TCGA-VM-A8CF-01A-11D-A36O-08	TCGA-VM-A8CF-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b57c2436-ff10-457e-8631-388a14287caf	385cb50e-62eb-4818-961b-d2633df5debf	g.chr3:89390920C>A	ENST00000336596.2	+	5	1211	c.986C>A	c.(985-987)cCa>cAa	p.P329Q	EPHA3_ENST00000452448.2_Missense_Mutation_p.P329Q|EPHA3_ENST00000494014.1_Missense_Mutation_p.P329Q	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	329	Fibronectin type-III 1.					extracellular region|integral to plasma membrane	ATP binding			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		CCATCTTCACCAAGAAATGTT	0.403										TSP Lung(6;0.00050)			8	30					1.26484e-09	1.33142e-09	1	1	0	A	89390920	C	A	89390920	3	1	499	1	0	0	0	0	1	0	0	0	5196	594	21	5	1004	5	EPHA3	3	89390920	Missense_Mutation	SNP	C	TCGA-VM-A8CF-01A-11D-A36O-08	20602637	89390920	108631510	11	37876											
KIAA0232	9778	broad.mit.edu	37	4	6862653	6862653	+	Missense_Mutation	SNP	T	T	C			TCGA-VM-A8CF-01A-11D-A36O-08	TCGA-VM-A8CF-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b57c2436-ff10-457e-8631-388a14287caf	385cb50e-62eb-4818-961b-d2633df5debf	g.chr4:6862653T>C	ENST00000307659.5	+	7	999	c.544T>C	c.(544-546)Tct>Cct	p.S182P	KIAA0232_ENST00000425103.1_Missense_Mutation_p.S182P	NM_014743.2	NP_055558.2	Q92628	K0232_HUMAN	KIAA0232	182							ATP binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(12)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	41						TCCACCACTTTCTGAGAAACC	0.398													44	58					0	0	1	0	0	C	6862653	T	C	6862653	3	2	499	1	0	0	0	0	1	0	0	0	8205	1783	62	3	562	3	KIAA0232	4	6862653	Missense_Mutation	SNP	T	TCGA-VM-A8CF-01A-11D-A36O-08		6862653	184291623	12	37877											
GABRA2	2555	broad.mit.edu	37	4	46388112	46388112	+	Missense_Mutation	SNP	G	G	C			TCGA-VM-A8CF-01A-11D-A36O-08	TCGA-VM-A8CF-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b57c2436-ff10-457e-8631-388a14287caf	385cb50e-62eb-4818-961b-d2633df5debf	g.chr4:46388112G>C	ENST00000507460.1	-	3	498	c.166C>G	c.(166-168)Cgg>Ggg	p.R56G	GABRA2_ENST00000381620.4_Missense_Mutation_p.R56G|GABRA2_ENST00000356504.1_Missense_Mutation_p.R56G|GABRA2_ENST00000514090.1_Missense_Mutation_p.R56G|GABRA2_ENST00000515082.1_Missense_Mutation_p.R56G|GABRA2_ENST00000540012.1_Missense_Mutation_p.I23M|GABRA2_ENST00000507069.1_Missense_Mutation_p.R56G|GABRA2_ENST00000510861.1_Missense_Mutation_p.R56G|GABRA2_ENST00000509716.1_5'UTR			P47869	GBRA2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 2	56					gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels	cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56					Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	GGTCTAAGCCGATTATCGTAA	0.353													8	31					0	0	1	0	0	C	46388112	G	C	46388112	3	2	499	1	0	0	0	0	1	0	0	0	6196	1057	37	5	1221	5	GABRA2	4	46388112	Missense_Mutation	SNP	G	TCGA-VM-A8CF-01A-11D-A36O-08	39525459	46388112	144766164	13	37878											
REST	5978	broad.mit.edu	37	4	57796251	57796251	+	Silent	SNP	A	A	G			TCGA-VM-A8CF-01A-11D-A36O-08	TCGA-VM-A8CF-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b57c2436-ff10-457e-8631-388a14287caf	385cb50e-62eb-4818-961b-d2633df5debf	g.chr4:57796251A>G	ENST00000309042.7	+	4	1541	c.1227A>G	c.(1225-1227)aaA>aaG	p.K409K		NM_001193508.1|NM_005612.4	NP_001180437.1|NP_005603.3	Q13127	REST_HUMAN	RE1-silencing transcription factor	409	Lys-rich.				cardiac muscle cell myoblast differentiation|cellular response to drug|cellular response to electrical stimulus|cellular response to glucocorticoid stimulus|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of aldosterone biosynthetic process|negative regulation of calcium ion-dependent exocytosis|negative regulation of cell proliferation|negative regulation of cortisol biosynthetic process|negative regulation of dense core granule biogenesis|negative regulation of insulin secretion|negative regulation of mesenchymal stem cell differentiation|negative regulation of neurogenesis|negative regulation of neuron differentiation|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of transcription, DNA-dependent	cytoplasm|transcriptional repressor complex	calcium channel activity|chromatin binding|core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|outward rectifier potassium channel activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|zinc ion binding			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	50	Glioma(25;0.08)|all_neural(26;0.181)					ATCACTTCAAATCTAAGCATC	0.378													29	129					0	0	1	0	0	G	57796251	A	G	57796251	2	3	499	1	0	0	0	0	0	0	0	1	13286	98	4	3		3	REST	4	57796251	Silent	SNP	A	TCGA-VM-A8CF-01A-11D-A36O-08	11408139	57796251	133358025	14	37879											
DCK	1633	broad.mit.edu	37	4	71889297	71889297	+	Missense_Mutation	SNP	G	G	T			TCGA-VM-A8CF-01A-11D-A36O-08	TCGA-VM-A8CF-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b57c2436-ff10-457e-8631-388a14287caf	385cb50e-62eb-4818-961b-d2633df5debf	g.chr4:71889297G>T	ENST00000286648.5	+	4	820	c.423G>T	c.(421-423)ttG>ttT	p.L141F	DCK_ENST00000504952.1_Missense_Mutation_p.L141F|DCK_ENST00000504730.1_Missense_Mutation_p.L141F	NM_000788.2	NP_000779.1	P27707	DCK_HUMAN	deoxycytidine kinase	141					purine base metabolic process|purine-containing compound salvage|pyrimidine base metabolic process|pyrimidine nucleoside salvage|pyrimidine nucleotide metabolic process	cytosol|nucleus	ATP binding|deoxycytidine kinase activity|drug binding|phosphotransferase activity, alcohol group as acceptor|protein homodimerization activity			endometrium(2)|large_intestine(3)|lung(3)|ovary(1)	9			Lung(101;0.235)		Cladribine(DB00242)|Clofarabine(DB00631)|Decitabine(DB01262)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Pemetrexed(DB00642)|Zalcitabine(DB00943)	CATCTAATTTGTATGAATCTG	0.328													22	34					6.21321e-17	6.77805e-17	1	1	0	T	71889297	G	T	71889297	3	4	499	1	0	0	0	0	1	0	0	0	4313	1368	48	5	437	5	DCK	4	71889297	Missense_Mutation	SNP	G	TCGA-VM-A8CF-01A-11D-A36O-08	14093046	71889297	119264979	15	37880											
GLRB	2743	broad.mit.edu	37	4	158059959	158059959	+	Splice_Site	SNP	A	A	G			TCGA-VM-A8CF-01A-11D-A36O-08	TCGA-VM-A8CF-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b57c2436-ff10-457e-8631-388a14287caf	385cb50e-62eb-4818-961b-d2633df5debf	g.chr4:158059959A>G	ENST00000264428.4	+	7	880		c.e7-1		GLRB_ENST00000509282.1_Splice_Site|GLRB_ENST00000512619.1_Intron|GLRB_ENST00000541722.1_Splice_Site	NM_000824.4	NP_000815.1	P48167	GLRB_HUMAN	glycine receptor, beta						nervous system development|neuropeptide signaling pathway|startle response	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|protein binding|receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(6)|skin(5)|upper_aerodigestive_tract(1)	27	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707)	Glycine(DB00145)	TTTTGTTTATAGTTGGTTACA	0.259													39	46					0	0	1	0	0	G	158059959	A	G	158059959	5	3	499	1	0	0	0	0	0	0	1	0	6500	434	15	3	631	3	GLRB	4	158059959	Splice_Site	SNP	A	TCGA-VM-A8CF-01A-11D-A36O-08	86170662	158059959	33094317	16	37881											
PCDHB12	56124	broad.mit.edu	37	5	140590836	140590836	+	Missense_Mutation	SNP	A	A	G			TCGA-VM-A8CF-01A-11D-A36O-08	TCGA-VM-A8CF-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b57c2436-ff10-457e-8631-388a14287caf	385cb50e-62eb-4818-961b-d2633df5debf	g.chr5:140590836A>G	ENST00000239450.2	+	1	2546	c.2357A>G	c.(2356-2358)aAt>aGt	p.N786S	PCDHB12_ENST00000541609.1_Missense_Mutation_p.N449S	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN		786					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GTCGAAGAAAATCCCCCATTT	0.383													27	50					0	0	1	0	0	G	140590836	A	G	140590836	3	3	499	1	0	0	0	0	1	0	0	0	11584	101	4	3	2359	3	PCDHB12	5	140590836	Missense_Mutation	SNP	A	TCGA-VM-A8CF-01A-11D-A36O-08		140590836	40324424	17	37882											
RIPK1	8737	broad.mit.edu	37	6	3106127	3106127	+	Missense_Mutation	SNP	G	G	A			TCGA-VM-A8CF-01A-11D-A36O-08	TCGA-VM-A8CF-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b57c2436-ff10-457e-8631-388a14287caf	385cb50e-62eb-4818-961b-d2633df5debf	g.chr6:3106127G>A	ENST00000259808.4	+	9	1716	c.1418G>A	c.(1417-1419)gGc>gAc	p.G473D	RIPK1_ENST00000479389.1_3'UTR|RIPK1_ENST00000380409.2_Missense_Mutation_p.G473D|RIPK1_ENST00000541791.1_Missense_Mutation_p.G427D			Q13546	RIPK1_HUMAN	receptor (TNFRSF)-interacting serine-threonine kinase 1	473	Interaction with SQSTM1.				activation of caspase activity|activation of JUN kinase activity|activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|induction of necroptosis by extracellular signals|innate immune response|MyD88-independent toll-like receptor signaling pathway|positive regulation of anti-apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 production|positive regulation of NF-kappaB transcription factor activity|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|protein autophosphorylation|regulation of ATP:ADP antiporter activity|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|death-inducing signaling complex|endosome membrane|mitochondrion|receptor complex	ATP binding|death domain binding|death receptor binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	23	Ovarian(93;0.0386)	all_hematologic(90;0.0895)				AGCTCACATGGCTTTGGAACA	0.498													4	32					0	0	1	0	0	A	3106127	G	A	3106127	3	1	499	1	0	0	0	0	1	0	0	0	13432	1203	42	2	1448	2	RIPK1	6	3106127	Missense_Mutation	SNP	G	TCGA-VM-A8CF-01A-11D-A36O-08		3106127	168008940	18	37883											
TFEB	7942	broad.mit.edu	37	6	41654880	41654880	+	Missense_Mutation	SNP	T	T	C			TCGA-VM-A8CF-01A-11D-A36O-08	TCGA-VM-A8CF-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b57c2436-ff10-457e-8631-388a14287caf	385cb50e-62eb-4818-961b-d2633df5debf	g.chr6:41654880T>C	ENST00000394283.1	-	7	1981	c.755A>G	c.(754-756)aAt>aGt	p.N252S	TFEB_ENST00000420312.1_Missense_Mutation_p.N167S|TFEB_ENST00000403298.4_Missense_Mutation_p.N252S|TFEB_ENST00000358871.2_Missense_Mutation_p.N266S|TFEB_ENST00000373033.1_Missense_Mutation_p.N252S|TFEB_ENST00000230323.4_Missense_Mutation_p.N252S			P19484	TFEB_HUMAN	transcription factor EB	252	Helix-loop-helix motif.				embryonic placenta development|humoral immune response|positive regulation of transcription from RNA polymerase II promoter	cytoplasm	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	11	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;7.61e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507)			GATGCGGTCATTGATGTTGAA	0.547			T	ALPHA	renal (childhood epithelioid)								5	18					0	0	1	0	0	C	41654880	T	C	41654880	3	2	499	1	0	0	0	0	1	0	0	0	15861	1493	52	3	687	3	TFEB	6	41654880	Missense_Mutation	SNP	T	TCGA-VM-A8CF-01A-11D-A36O-08	38548753	41654880	129460187	19	37884											
COL21A1	81578	broad.mit.edu	37	6	55924013	55924013	+	Missense_Mutation	SNP	C	C	T			TCGA-VM-A8CF-01A-11D-A36O-08	TCGA-VM-A8CF-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b57c2436-ff10-457e-8631-388a14287caf	385cb50e-62eb-4818-961b-d2633df5debf	g.chr6:55924013C>T	ENST00000244728.5	-	29	3033	c.2636G>A	c.(2635-2637)gGg>gAg	p.G879E	COL21A1_ENST00000535941.1_Missense_Mutation_p.G879E|COL21A1_ENST00000467045.1_5'UTR|COL21A1_ENST00000370808.2_Missense_Mutation_p.G245E|COL21A1_ENST00000370819.1_Missense_Mutation_p.G876E	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	879	Collagen-like 6.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			CCCTTGGCTCCCTTTTTCCCC	0.448													7	17					0	0	1	0	0	T	55924013	C	T	55924013	3	4	499	1	0	0	0	0	1	0	0	0	3703	623	22	2	245	2	COL21A1	6	55924013	Missense_Mutation	SNP	C	TCGA-VM-A8CF-01A-11D-A36O-08	14269133	55924013	115191054	20	37885											
DUS4L	11062	broad.mit.edu	37	7	107215662	107215662	+	Missense_Mutation	SNP	G	G	C			TCGA-VM-A8CF-01A-11D-A36O-08	TCGA-VM-A8CF-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b57c2436-ff10-457e-8631-388a14287caf	385cb50e-62eb-4818-961b-d2633df5debf	g.chr7:107215662G>C	ENST00000265720.3	+	6	748	c.386G>C	c.(385-387)tGc>tCc	p.C129S	DUS4L_ENST00000402620.1_Missense_Mutation_p.C8S	NM_001270419.1|NM_181581.2	NP_001257348.1|NP_853559.1	O95620	DUS4L_HUMAN	dihydrouridine synthase 4-like (S. cerevisiae)	129					tRNA processing		flavin adenine dinucleotide binding|tRNA dihydrouridine synthase activity			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)|stomach(1)	8						TATGGGGCTTGCTTAATAAAC	0.363													12	86					0	0	1	0	0	C	107215662	G	C	107215662	3	2	499	1	0	0	0	0	1	0	0	0	4834	1319	46	5	400	5	DUS4L	7	107215662	Missense_Mutation	SNP	G	TCGA-VM-A8CF-01A-11D-A36O-08		107215662	51923001	21	37886											
ANGPT1	284	broad.mit.edu	37	8	108334251	108334251	+	Silent	SNP	T	T	G			TCGA-VM-A8CF-01A-11D-A36O-08	TCGA-VM-A8CF-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b57c2436-ff10-457e-8631-388a14287caf	385cb50e-62eb-4818-961b-d2633df5debf	g.chr8:108334251T>G	ENST00000520734.1	-	3	366	c.81A>C	c.(79-81)acA>acC	p.T27T	ANGPT1_ENST00000520052.1_Silent_p.T27T			Q15389	ANGP1_HUMAN	angiopoietin 1	227					activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|blood coagulation|cell differentiation|heparin biosynthetic process|leukocyte migration|negative regulation of cell adhesion|negative regulation of endothelial cell apoptosis|negative regulation of vascular permeability|positive chemotaxis|positive regulation of blood vessel endothelial cell migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|positive regulation of receptor internalization|protein localization at cell surface|regulation of satellite cell proliferation|sprouting angiogenesis|Tie receptor signaling pathway	extracellular space|membrane raft|microvillus|plasma membrane	receptor tyrosine kinase binding			NS(1)|breast(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(13)|ovary(4)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	43	Breast(1;5.06e-08)		OV - Ovarian serous cystadenocarcinoma(57;5.53e-09)			GGATTATATATGTTTGACGAG	0.418													12	127					0	0	1	0	0	G	108334251	T	G	108334251	2	3	499	1	0	0	0	0	0	0	0	1	606	1451	51	4		4	ANGPT1	8	108334251	Silent	SNP	T	TCGA-VM-A8CF-01A-11D-A36O-08		108334251	38029771	22	37887											
FREM1	158326	broad.mit.edu	37	9	14746437	14746437	+	Silent	SNP	C	C	T			TCGA-VM-A8CF-01A-11D-A36O-08	TCGA-VM-A8CF-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b57c2436-ff10-457e-8631-388a14287caf	385cb50e-62eb-4818-961b-d2633df5debf	g.chr9:14746437C>T	ENST00000380881.4	-	36	6986	c.6171G>A	c.(6169-6171)ggG>ggA	p.G2057G	FREM1_ENST00000380894.1_Silent_p.G592G|FREM1_ENST00000422223.2_Silent_p.G2056G|FREM1_ENST00000380880.3_Silent_p.G2056G			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	2056					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		GCTGGTGCCACCCGGCTGGAC	0.493													15	42					0	0	1	0	0	T	14746437	C	T	14746437	2	4	499	1	0	0	0	0	0	0	0	1	6079	494	18	2		2	FREM1	9	14746437	Silent	SNP	C	TCGA-VM-A8CF-01A-11D-A36O-08		14746437	126466994	23	37888											
SNAPC3	6619	broad.mit.edu	37	9	15459757	15459757	+	Missense_Mutation	SNP	T	T	C			TCGA-VM-A8CF-01A-11D-A36O-08	TCGA-VM-A8CF-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b57c2436-ff10-457e-8631-388a14287caf	385cb50e-62eb-4818-961b-d2633df5debf	g.chr9:15459757T>C	ENST00000380821.3	+	9	1305	c.1129T>C	c.(1129-1131)Tgc>Cgc	p.C377R		NM_001039697.1	NP_001034786.1	Q92966	SNPC3_HUMAN	small nuclear RNA activating complex, polypeptide 3, 50kDa	377					regulation of transcription, DNA-dependent|snRNA transcription|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding|protein binding			breast(1)|endometrium(3)|large_intestine(6)|lung(2)	12				GBM - Glioblastoma multiforme(50;2.15e-06)		AGAGGACCCATGCTTCTTTTG	0.393													19	50					0	0	1	0	0	C	15459757	T	C	15459757	3	2	499	1	0	0	0	0	1	0	0	0	14890	1464	51	3	1163	3	SNAPC3	9	15459757	Missense_Mutation	SNP	T	TCGA-VM-A8CF-01A-11D-A36O-08	713320	15459757	125753674	24	37889											
SVIL	6840	broad.mit.edu	37	10	29839796	29839796	+	Missense_Mutation	SNP	G	G	A			TCGA-VM-A8CF-01A-11D-A36O-08	TCGA-VM-A8CF-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b57c2436-ff10-457e-8631-388a14287caf	385cb50e-62eb-4818-961b-d2633df5debf	g.chr10:29839796G>A	ENST00000375398.2	-	8	1006	c.557C>T	c.(556-558)gCc>gTc	p.A186V	SVIL_ENST00000375400.3_Missense_Mutation_p.A186V|SVIL_ENST00000355867.4_Missense_Mutation_p.A186V			O95425	SVIL_HUMAN	supervillin	186					cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				CACATGGAGGGCATAGTCCTT	0.577													4	87					0	0	1	0	0	A	29839796	G	A	29839796	3	1	499	1	0	0	0	0	1	0	0	0	15477	1203	42	2	6219	2	SVIL	10	29839796	Missense_Mutation	SNP	G	TCGA-VM-A8CF-01A-11D-A36O-08		29839796	105694951	25	37890											
SYCE1	93426	broad.mit.edu	37	10	135370647	135370647	+	Missense_Mutation	SNP	A	A	T			TCGA-VM-A8CF-01A-11D-A36O-08	TCGA-VM-A8CF-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b57c2436-ff10-457e-8631-388a14287caf	385cb50e-62eb-4818-961b-d2633df5debf	g.chr10:135370647A>T	ENST00000368517.3	-	7	418	c.280T>A	c.(280-282)Ttg>Atg	p.L94M	SYCE1_ENST00000343131.5_Missense_Mutation_p.L130M|SYCE1_ENST00000432597.2_Missense_Mutation_p.L94M|SPRN_ENST00000541506.1_Intron	NM_130784.2	NP_570140.1	Q8N0S2	SYCE1_HUMAN	synaptonemal complex central element protein 1	130					cell division	central element				breast(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|stomach(3)|urinary_tract(1)	19		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)		CACTCCTGCAACATGGTGTGC	0.547													32	134					0	0	1	0	0	T	135370647	A	T	135370647	3	4	499	1	0	0	0	0	1	0	0	0	15484	40	2	5	738	5	SYCE1	10	135370647	Missense_Mutation	SNP	A	TCGA-VM-A8CF-01A-11D-A36O-08	105530851	135370647	164100	26	37891											
PPFIBP2	8495	broad.mit.edu	37	11	7662771	7662771	+	Silent	SNP	G	G	A			TCGA-VM-A8CF-01A-11D-A36O-08	TCGA-VM-A8CF-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b57c2436-ff10-457e-8631-388a14287caf	385cb50e-62eb-4818-961b-d2633df5debf	g.chr11:7662771G>A	ENST00000299492.4	+	16	1825	c.1437G>A	c.(1435-1437)tcG>tcA	p.S479S	PPFIBP2_ENST00000530582.1_3'UTR|PPFIBP2_ENST00000530181.1_Silent_p.S336S|PPFIBP2_ENST00000528883.1_Silent_p.S367S|PPFIBP2_ENST00000533792.1_Silent_p.S321S	NM_003621.3	NP_003612	Q8ND30	LIPB2_HUMAN	PTPRF interacting protein, binding protein 2 (liprin beta 2)	479					cell communication|DNA integration	intracellular	DNA binding|integrase activity|protein binding			breast(8)|cervix(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				Epithelial(150;2.01e-07)|BRCA - Breast invasive adenocarcinoma(625;0.236)		CCACATCATCGGGCACTGAAT	0.483													3	54					0	0	1	0	0	A	7662771	G	A	7662771	2	1	499	1	0	0	0	0	0	0	0	1	12359	1103	39	1		1	PPFIBP2	11	7662771	Silent	SNP	G	TCGA-VM-A8CF-01A-11D-A36O-08		7662771	127343745	27	37892											
ARHGAP1	392	broad.mit.edu	37	11	46701805	46701805	+	Missense_Mutation	SNP	C	C	G			TCGA-VM-A8CF-01A-11D-A36O-08	TCGA-VM-A8CF-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b57c2436-ff10-457e-8631-388a14287caf	385cb50e-62eb-4818-961b-d2633df5debf	g.chr11:46701805C>G	ENST00000311956.4	-	10	945	c.848G>C	c.(847-849)aGg>aCg	p.R283T		NM_004308.3	NP_004299.1	Q07960	RHG01_HUMAN	Rho GTPase activating protein 1	283	Rho-GAP.				Rho protein signal transduction	cytosol|intracellular membrane-bounded organelle	SH3 domain binding|SH3/SH2 adaptor activity			endometrium(1)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	11		Lung NSC(402;1.76e-12)|all_lung(304;1.3e-11)		GBM - Glioblastoma multiforme(35;5.17e-06)|BRCA - Breast invasive adenocarcinoma(625;0.00112)|Lung(87;0.153)		GTTGGCCGACCTCCGGAAGAT	0.617													10	43					0	0	1	0	0	G	46701805	C	G	46701805	3	3	499	1	0	0	0	0	1	0	0	0	858	681	24	4	487	4	ARHGAP1	11	46701805	Missense_Mutation	SNP	C	TCGA-VM-A8CF-01A-11D-A36O-08	39039034	46701805	88304711	28	37893											
OR5M9	390162	broad.mit.edu	37	11	56230095	56230095	+	Silent	SNP	G	G	C			TCGA-VM-A8CF-01A-11D-A36O-08	TCGA-VM-A8CF-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b57c2436-ff10-457e-8631-388a14287caf	385cb50e-62eb-4818-961b-d2633df5debf	g.chr11:56230095G>C	ENST00000279791.1	-	1	782	c.783C>G	c.(781-783)ccC>ccG	p.P261P		NM_001004743.1	NP_001004743.1	Q8NGP3	OR5M9_HUMAN	olfactory receptor, family 5, subfamily M, member 9	261					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P261P(1)|p.P261Q(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	36	Esophageal squamous(21;0.00448)					ATTCCTCAGTGGGTCTCCTGA	0.493													10	42					0	0	1	0	0	C	56230095	G	C	56230095	2	2	499	1	0	0	0	0	0	0	0	1	11224	1335	47	5		5	OR5M9	11	56230095	Silent	SNP	G	TCGA-VM-A8CF-01A-11D-A36O-08	9528290	56230095	78776421	29	37894	154	2									
OR5M9	390162	broad.mit.edu	37	11	56230096	56230096	+	Missense_Mutation	SNP	G	G	A			TCGA-VM-A8CF-01A-11D-A36O-08	TCGA-VM-A8CF-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b57c2436-ff10-457e-8631-388a14287caf	385cb50e-62eb-4818-961b-d2633df5debf	g.chr11:56230096G>A	ENST00000279791.1	-	1	781	c.782C>T	c.(781-783)cCc>cTc	p.P261L		NM_001004743.1	NP_001004743.1	Q8NGP3	OR5M9_HUMAN	olfactory receptor, family 5, subfamily M, member 9	261					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P261Q(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	36	Esophageal squamous(21;0.00448)					TTCCTCAGTGGGTCTCCTGAG	0.488													10	42					0	0	1	0	0	A	56230096	G	A	56230096	3	1	499	1	0	0	0	0	1	0	0	0	11224	1232	43	2	152	2	OR5M9	11	56230096	Missense_Mutation	SNP	G	TCGA-VM-A8CF-01A-11D-A36O-08	1	56230096	78776420	30	37895	154	2									
OR5A1	219982	broad.mit.edu	37	11	59210797	59210797	+	Silent	SNP	C	C	T			TCGA-VM-A8CF-01A-11D-A36O-08	TCGA-VM-A8CF-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b57c2436-ff10-457e-8631-388a14287caf	385cb50e-62eb-4818-961b-d2633df5debf	g.chr11:59210797C>T	ENST00000302030.2	+	1	181	c.156C>T	c.(154-156)atC>atT	p.I52I		NM_001004728.1	NP_001004728.1	Q8NGJ0	OR5A1_HUMAN	olfactory receptor, family 5, subfamily A, member 1	52			I -> V (in dbSNP:rs17153732).		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	28						TTTTTCTGATCAGAGGTGACA	0.498													18	102					0	0	1	0	0	T	59210797	C	T	59210797	2	4	499	1	0	0	0	0	0	0	0	1	11186	816	29	2		2	OR5A1	11	59210797	Silent	SNP	C	TCGA-VM-A8CF-01A-11D-A36O-08	2980701	59210797	75795719	31	37896											
MMP3	4314	broad.mit.edu	37	11	102711301	102711301	+	Missense_Mutation	SNP	C	C	A			TCGA-VM-A8CF-01A-11D-A36O-08	TCGA-VM-A8CF-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b57c2436-ff10-457e-8631-388a14287caf	385cb50e-62eb-4818-961b-d2633df5debf	g.chr11:102711301C>A	ENST00000299855.5	-	5	905	c.649G>T	c.(649-651)Gct>Tct	p.A217S		NM_002422.3	NP_002413.1	P08254	MMP3_HUMAN	matrix metallopeptidase 3 (stromelysin 1, progelatinase)	217					collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0142)	Marimastat(DB00786)|Simvastatin(DB00641)	ATTTCATGAGCAGCAACGAGA	0.413													4	56					0.00024832	0.000252529	1	1	0	A	102711301	C	A	102711301	3	1	499	1	0	0	0	0	1	0	0	0	9715	710	25	5	808	5	MMP3	11	102711301	Missense_Mutation	SNP	C	TCGA-VM-A8CF-01A-11D-A36O-08	43500504	102711301	32295215	32	37897											
GUCY1A2	2977	broad.mit.edu	37	11	106647281	106647281	+	Missense_Mutation	SNP	C	C	A			TCGA-VM-A8CF-01A-11D-A36O-08	TCGA-VM-A8CF-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b57c2436-ff10-457e-8631-388a14287caf	385cb50e-62eb-4818-961b-d2633df5debf	g.chr11:106647281C>A	ENST00000526355.2	-	6	2188	c.1720G>T	c.(1720-1722)Gtt>Ttt	p.V574F	GUCY1A2_ENST00000347596.2_Missense_Mutation_p.V595F|GUCY1A2_ENST00000282249.2_Missense_Mutation_p.V574F	NM_000855.2	NP_000846.1	P33402	GCYA2_HUMAN	guanylate cyclase 1, soluble, alpha 2		Guanylate cyclase.				intracellular signal transduction|platelet activation	cytoplasm	GTP binding|guanylate cyclase activity|heme binding			breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	74		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)		CCTGCTGCAACACAGTAGGCA	0.443													4	31					1	1	1	1	0	A	106647281	C	A	106647281	3	1	499	1	0	0	0	0	1	0	0	0	6934	478	17	5	490	5	GUCY1A2	11	106647281	Missense_Mutation	SNP	C	TCGA-VM-A8CF-01A-11D-A36O-08	3935980	106647281	28359235	33	37898											
CRYAB	1410	broad.mit.edu	37	11	111779528	111779528	+	Missense_Mutation	SNP	C	C	T			TCGA-VM-A8CF-01A-11D-A36O-08	TCGA-VM-A8CF-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b57c2436-ff10-457e-8631-388a14287caf	385cb50e-62eb-4818-961b-d2633df5debf	g.chr11:111779528C>T	ENST00000533475.1	-	4	937	c.488G>A	c.(487-489)cGt>cAt	p.R163H	CRYAB_ENST00000531198.1_Missense_Mutation_p.R163H|CRYAB_ENST00000525823.1_Missense_Mutation_p.R96H|CRYAB_ENST00000526180.1_Missense_Mutation_p.R163H|CRYAB_ENST00000533280.1_Missense_Mutation_p.R96H|CRYAB_ENST00000227251.3_Missense_Mutation_p.R163H|CRYAB_ENST00000527950.1_Missense_Mutation_p.R163H	NM_001885.1	NP_001876.1	P02511	CRYAB_HUMAN	crystallin, alpha B	163					anti-apoptosis|muscle contraction|negative regulation of intracellular transport|protein folding|protein homooligomerization|response to heat	cytoplasm|nucleus	protein homodimerization activity|structural constituent of eye lens|unfolded protein binding	p.R163H(1)		endometrium(1)|large_intestine(1)|lung(2)|skin(4)	8		all_cancers(61;1.26e-15)|all_epithelial(67;9.52e-10)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;3.57e-07)|BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|all cancers(92;6.57e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.051)		CTTCTCTTCACGGGTGATGGG	0.493													16	55					0	0	1	0	0	T	111779528	C	T	111779528	3	4	499	1	0	0	0	0	1	0	0	0	3929	536	19	1	43	1	CRYAB	11	111779528	Missense_Mutation	SNP	C	TCGA-VM-A8CF-01A-11D-A36O-08	5132247	111779528	23226988	34	37899											
FAH	2184	broad.mit.edu	37	15	80465431	80465431	+	Missense_Mutation	SNP	C	C	T	rs80338898		TCGA-VM-A8CF-01A-11D-A36O-08	TCGA-VM-A8CF-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b57c2436-ff10-457e-8631-388a14287caf	385cb50e-62eb-4818-961b-d2633df5debf	g.chr15:80465431C>T	ENST00000539156.1	+	8	2810	c.572C>T	c.(571-573)cCg>cTg	p.P191L	FAH_ENST00000558627.1_3'UTR|FAH_ENST00000561421.1_Missense_Mutation_p.P261L|FAH_ENST00000261755.5_Missense_Mutation_p.P261L|FAH_ENST00000407106.1_Missense_Mutation_p.P261L			P16930	FAAA_HUMAN	fumarylacetoacetate hydrolase (fumarylacetoacetase)	261					L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	fumarylacetoacetase activity|metal ion binding			endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						ACTGTCTCTCCGTGGGTGGTG	0.577									Tyrosinemia, type 1		OREG0023354	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	52					0	0	1	0	0	T	80465431	C	T	80465431	3	4	499	1	0	0	0	0	1	0	0	0	5402	652	23	1	816	1	FAH	15	80465431	Missense_Mutation	SNP	C	TCGA-VM-A8CF-01A-11D-A36O-08		80465431	22065961	35	37900											
ADAMTS17	170691	broad.mit.edu	37	15	100695507	100695507	+	Silent	SNP	G	G	A			TCGA-VM-A8CF-01A-11D-A36O-08	TCGA-VM-A8CF-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b57c2436-ff10-457e-8631-388a14287caf	385cb50e-62eb-4818-961b-d2633df5debf	g.chr15:100695507G>A	ENST00000268070.4	-	9	1305	c.1200C>T	c.(1198-1200)gaC>gaT	p.D400D		NM_139057.2	NP_620688.2	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 17	400	Peptidase M12B.				proteolysis	intracellular|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)	50	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)		AGTGGTCATCGTCGTGGTTCA	0.557													4	12					0	0	1	0	0	A	100695507	G	A	100695507	2	1	499	1	0	0	0	0	0	0	0	1	261	1136	40	1		1	ADAMTS17	15	100695507	Silent	SNP	G	TCGA-VM-A8CF-01A-11D-A36O-08	20230076	100695507	1835885	36	37901											
TP53	7157	broad.mit.edu	37	17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	rs121913343		TCGA-VM-A8CF-01A-11D-A36O-08	TCGA-VM-A8CF-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b57c2436-ff10-457e-8631-388a14287caf	385cb50e-62eb-4818-961b-d2633df5debf	g.chr17:7577121G>A	ENST00000420246.2	-	8	949	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron|TP53_ENST00000269305.4_Missense_Mutation_p.R273C|TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000445888.2_Missense_Mutation_p.R273C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	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).		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.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			17	2					0	0	1	0	0	A	7577121	G	A	7577121	3	1	499	1	0	0	0	0	1	0	0	0	16442	1087	38	1	469	1	TP53	17	7577121	Missense_Mutation	SNP	G	TCGA-VM-A8CF-01A-11D-A36O-08		7577121	73618089	37	37902											
MYH4	4622	broad.mit.edu	37	17	10348674	10348674	+	Silent	SNP	G	G	C			TCGA-VM-A8CF-01A-11D-A36O-08	TCGA-VM-A8CF-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b57c2436-ff10-457e-8631-388a14287caf	385cb50e-62eb-4818-961b-d2633df5debf	g.chr17:10348674G>C	ENST00000255381.2	-	36	5285	c.5175C>G	c.(5173-5175)acC>acG	p.T1725T	RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1725					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TGATCAGGCTGGTGTTCTGTT	0.418													23	84					0	0	1	0	0	C	10348674	G	C	10348674	2	2	499	1	0	0	0	0	0	0	0	1	10085	1335	47	5		5	MYH4	17	10348674	Silent	SNP	G	TCGA-VM-A8CF-01A-11D-A36O-08	2771553	10348674	70846536	38	37903											
KRT34	3885	broad.mit.edu	37	17	39535345	39535345	+	Silent	SNP	G	G	A			TCGA-VM-A8CF-01A-11D-A36O-08	TCGA-VM-A8CF-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b57c2436-ff10-457e-8631-388a14287caf	385cb50e-62eb-4818-961b-d2633df5debf	g.chr17:39535345G>A	ENST00000394001.1	-	6	1116	c.1086C>T	c.(1084-1086)aaC>aaT	p.N362N		NM_021013.3	NP_066293.2	O76011	KRT34_HUMAN	keratin 34	362	Coil 2.|Rod.				epidermis development	intermediate filament	protein binding|structural molecule activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Breast(137;0.000496)				GAGACTCCACGTTGGTGATCA	0.617													30	50					0	0	1	0	0	A	39535345	G	A	39535345	2	1	499	1	0	0	0	0	0	0	0	1	8514	1136	40	1		1	KRT34	17	39535345	Silent	SNP	G	TCGA-VM-A8CF-01A-11D-A36O-08	29186671	39535345	41659865	39	37904											
ENGASE	64772	broad.mit.edu	37	17	77082120	77082120	+	Missense_Mutation	SNP	G	G	T			TCGA-VM-A8CF-01A-11D-A36O-08	TCGA-VM-A8CF-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b57c2436-ff10-457e-8631-388a14287caf	385cb50e-62eb-4818-961b-d2633df5debf	g.chr17:77082120G>T	ENST00000579016.1	+	14	1921	c.1921G>T	c.(1921-1923)Gct>Tct	p.A641S		NM_001042573.2	NP_001036038.1	Q8NFI3	ENASE_HUMAN	endo-beta-N-acetylglucosaminidase	641						cytosol	mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity			breast(2)|endometrium(4)|large_intestine(1)|lung(15)|prostate(2)|skin(1)	25						GGGGCCCCCTGCTCTGCTCCA	0.657													11	39					1.58986e-06	1.64469e-06	1	1	0	T	77082120	G	T	77082120	3	4	499	1	0	0	0	0	1	0	0	0	5146	1319	46	5	1975	5	ENGASE	17	77082120	Missense_Mutation	SNP	G	TCGA-VM-A8CF-01A-11D-A36O-08	37546775	77082120	4113090	40	37905											
PTPRM	5797	broad.mit.edu	37	18	7888149	7888149	+	Missense_Mutation	SNP	G	G	C	rs139956933		TCGA-VM-A8CF-01A-11D-A36O-08	TCGA-VM-A8CF-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b57c2436-ff10-457e-8631-388a14287caf	385cb50e-62eb-4818-961b-d2633df5debf	g.chr18:7888149G>C	ENST00000332175.8	+	3	1279	c.242G>C	c.(241-243)aGa>aCa	p.R81T	PTPRM_ENST00000580170.1_Missense_Mutation_p.R81T|PTPRM_ENST00000400053.4_Missense_Mutation_p.R19T|PTPRM_ENST00000400060.4_Missense_Mutation_p.R81T	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	81	MAM.				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				GAGGGGCAGAGAGCCCACCTG	0.463													21	92					0	0	1	0	0	C	7888149	G	C	7888149	3	2	499	1	0	0	0	0	1	0	0	0	12858	942	33	4	252	4	PTPRM	18	7888149	Missense_Mutation	SNP	G	TCGA-VM-A8CF-01A-11D-A36O-08		7888149	70189099	41	37906											
MC5R	4161	broad.mit.edu	37	18	13825781	13825781	+	Missense_Mutation	SNP	A	A	G			TCGA-VM-A8CF-01A-11D-A36O-08	TCGA-VM-A8CF-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b57c2436-ff10-457e-8631-388a14287caf	385cb50e-62eb-4818-961b-d2633df5debf	g.chr18:13825781A>G	ENST00000324750.3	+	1	239	c.17A>G	c.(16-18)cAc>cGc	p.H6R		NM_005913.2	NP_005904.1	P33032	MC5R_HUMAN	melanocortin 5 receptor	6					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocortin receptor activity|protein binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|upper_aerodigestive_tract(1)	41						TCCTCATTTCACCTGCATTTC	0.418													11	59					0	0	1	0	0	G	13825781	A	G	13825781	3	3	499	1	0	0	0	0	1	0	0	0	9417	159	6	3	19	3	MC5R	18	13825781	Missense_Mutation	SNP	A	TCGA-VM-A8CF-01A-11D-A36O-08	5937632	13825781	64251467	42	37907											
SMARCA4	6597	broad.mit.edu	37	19	11143976	11143976	+	Missense_Mutation	SNP	C	C	T			TCGA-VM-A8CF-01A-11D-A36O-08	TCGA-VM-A8CF-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b57c2436-ff10-457e-8631-388a14287caf	385cb50e-62eb-4818-961b-d2633df5debf	g.chr19:11143976C>T	ENST00000358026.2	+	26	3841	c.3557C>T	c.(3556-3558)gCg>gTg	p.A1186V	SMARCA4_ENST00000429416.3_Missense_Mutation_p.A1186V|SMARCA4_ENST00000450717.3_Missense_Mutation_p.A1186V|SMARCA4_ENST00000413806.3_Missense_Mutation_p.A1186V|SMARCA4_ENST00000589677.1_Missense_Mutation_p.A1186V|SMARCA4_ENST00000541122.2_Missense_Mutation_p.A1186V|SMARCA4_ENST00000444061.3_Missense_Mutation_p.A1186V|SMARCA4_ENST00000344626.4_Missense_Mutation_p.A1186V|SMARCA4_ENST00000590574.1_Missense_Mutation_p.A1186V	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	1186	Helicase C-terminal.				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.A1186G(2)|p.A1186V(1)|p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				GACCTGCAAGCGCAGGACCGA	0.622			"F, N, Mis"		NSCLC								13	23					0	0	1	0	0	T	11143976	C	T	11143976	3	4	499	1	0	0	0	0	1	0	0	0	14824	768	27	1	3655	1	SMARCA4	19	11143976	Missense_Mutation	SNP	C	TCGA-VM-A8CF-01A-11D-A36O-08		11143976	47985007	43	37908											
LENG9	94059	broad.mit.edu	37	19	54974125	54974125	+	Silent	SNP	C	C	T			TCGA-VM-A8CF-01A-11D-A36O-08	TCGA-VM-A8CF-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b57c2436-ff10-457e-8631-388a14287caf	385cb50e-62eb-4818-961b-d2633df5debf	g.chr19:54974125C>T	ENST00000333834.4	-	1	769	c.651G>A	c.(649-651)ccG>ccA	p.P217P		NM_198988.1	NP_945339.2	Q96B70	LENG9_HUMAN	leukocyte receptor cluster (LRC) member 9	217					RNA metabolic process	intracellular	catalytic activity|nucleic acid binding|zinc ion binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)	11	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.134)		CTGTGCAGAGCGGCCTTGTGC	0.701													5	25					0	0	1	0	0	T	54974125	C	T	54974125	2	4	499	1	0	0	0	0	0	0	0	1	8764	755	27	1		1	LENG9	19	54974125	Silent	SNP	C	TCGA-VM-A8CF-01A-11D-A36O-08	43830149	54974125	4154858	44	37909											
KIR2DL1	3802	broad.mit.edu	37	19	55284915	55284915	+	Silent	SNP	C	C	T	rs144426670	byFrequency	TCGA-VM-A8CF-01A-11D-A36O-08	TCGA-VM-A8CF-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b57c2436-ff10-457e-8631-388a14287caf	385cb50e-62eb-4818-961b-d2633df5debf	g.chr19:55284915C>T	ENST00000336077.6	+	3	241	c.201C>T	c.(199-201)aaC>aaT	p.N67N	KIR2DL3_ENST00000434419.2_Intron|KIR2DL1_ENST00000291633.7_Silent_p.N67N|KIR3DL1_ENST00000541392.1_Intron|KIR3DL1_ENST00000402254.2_Intron|KIR2DL4_ENST00000396284.2_Intron|KIR3DL1_ENST00000538269.1_Intron|CTB-61M7.1_ENST00000400864.3_RNA	NM_014218.2	NP_055033.2	P43626	KI2L1_HUMAN	killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1	67	Ig-like C2-type 1.				immune response|natural killer cell inhibitory signaling pathway	integral to plasma membrane	protein binding|receptor activity			breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	17				GBM - Glioblastoma multiforme(193;0.0192)		GGATGTTTAACGACACTTTGC	0.517													5	130					0	0	1	0	0	T	55284915	C	T	55284915	2	4	499	1	0	0	0	0	0	0	0	1	8359	535	19	1		1	KIR2DL1	19	55284915	Silent	SNP	C	TCGA-VM-A8CF-01A-11D-A36O-08	310790	55284915	3844068	45	37910											
NCR1	9437	broad.mit.edu	37	19	55420628	55420628	+	Missense_Mutation	SNP	C	C	T	rs142626797		TCGA-VM-A8CF-01A-11D-A36O-08	TCGA-VM-A8CF-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b57c2436-ff10-457e-8631-388a14287caf	385cb50e-62eb-4818-961b-d2633df5debf	g.chr19:55420628C>T	ENST00000594765.1	+	4	405	c.380C>T	c.(379-381)tCg>tTg	p.S127L	NCR1_ENST00000291890.4_Missense_Mutation_p.S127L|NCR1_ENST00000338835.5_Missense_Mutation_p.S127L|NCR1_ENST00000357397.5_Missense_Mutation_p.S20L|NCR1_ENST00000447255.1_Missense_Mutation_p.S127L|NCR1_ENST00000350790.5_Missense_Mutation_p.S32L|NCR1_ENST00000598576.1_Missense_Mutation_p.S115L			O76036	NCTR1_HUMAN	natural cytotoxicity triggering receptor 1	127					cellular defense response|natural killer cell activation|regulation of natural killer cell mediated cytotoxicity	integral to plasma membrane|SWI/SNF complex	receptor activity|receptor signaling protein activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	18				GBM - Glioblastoma multiforme(193;0.0449)		CCCACCCTCTCGGTTCATCCT	0.483													11	34					0	0	1	0	0	T	55420628	C	T	55420628	3	4	499	1	0	0	0	0	1	0	0	0	10284	893	31	1	394	1	NCR1	19	55420628	Missense_Mutation	SNP	C	TCGA-VM-A8CF-01A-11D-A36O-08	135713	55420628	3708355	46	37911											
USP9X	8239	broad.mit.edu	37	X	41057976	41057976	+	Missense_Mutation	SNP	A	A	G			TCGA-VM-A8CF-01A-11D-A36O-08	TCGA-VM-A8CF-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b57c2436-ff10-457e-8631-388a14287caf	385cb50e-62eb-4818-961b-d2633df5debf	g.chrX:41057976A>G	ENST00000324545.8	+	30	5209	c.4576A>G	c.(4576-4578)Atg>Gtg	p.M1526V	USP9X_ENST00000378308.2_Missense_Mutation_p.M1526V	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked						BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						TTTGACTGAAATGTATTACAT	0.318													8	13					0	0	1	0	0	G	41057976	A	G	41057976	3	3	499	1	0	0	0	0	1	0	0	0	17150	101	4	3	4690	3	USP9X	23	41057976	Missense_Mutation	SNP	A	TCGA-VM-A8CF-01A-11D-A36O-08		41057976	114212584	47	37912											
GNL3L	54552	broad.mit.edu	37	X	54570718	54570718	+	Missense_Mutation	SNP	G	G	A			TCGA-VM-A8CF-01A-11D-A36O-08	TCGA-VM-A8CF-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b57c2436-ff10-457e-8631-388a14287caf	385cb50e-62eb-4818-961b-d2633df5debf	g.chrX:54570718G>A	ENST00000336470.4	+	8	728	c.589G>A	c.(589-591)Gtg>Atg	p.V197M	GNL3L_ENST00000360845.2_Missense_Mutation_p.V197M|GNL3L_ENST00000489691.1_3'UTR	NM_019067.5	NP_061940.1	Q9NVN8	GNL3L_HUMAN	guanine nucleotide binding protein-like 3 (nucleolar)-like	197					ribosome biogenesis	nucleolus	GTP binding			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	30						GTTGCCAACCGTGGCTTTCAA	0.547													12	10					0	0	1	0	0	A	54570718	G	A	54570718	3	1	499	1	0	0	0	0	1	0	0	0	6580	1145	40	1	615	1	GNL3L	23	54570718	Missense_Mutation	SNP	G	TCGA-VM-A8CF-01A-11D-A36O-08	13512742	54570718	100699842	48	37913											
ATRX	546	broad.mit.edu	37	X	76939666	76939669	+	Frame_Shift_Del	DEL	TCAA	TCAA	-			TCGA-VM-A8CF-01A-11D-A36O-08	TCGA-VM-A8CF-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b57c2436-ff10-457e-8631-388a14287caf	385cb50e-62eb-4818-961b-d2633df5debf	g.chrX:76939666_76939669delTCAA	ENST00000373344.5	-	9	1293_1296	c.1079_1082delTTGA	c.(1078-1083)attgagfs	p.IE360fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.IE322fs	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	360					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)	GGCTGTGGTCTCAATCAGTTTTTT	0.368			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						38	75	---	---	---	---						-	76939669	TCAA	-	76939666	7	5	499	1	0	1	0	1	0	0	0	0	1206	1551	54	0	6504	0	ATRX	23	76939666	Frame_Shift_Del	DEL	TCAA	TCGA-VM-A8CF-01A-11D-A36O-08	22368948	76939666	78330894	49	37914											
FLNA	2316	broad.mit.edu	37	X	153586584	153586584	+	Silent	SNP	G	G	A			TCGA-VM-A8CF-01A-11D-A36O-08	TCGA-VM-A8CF-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b57c2436-ff10-457e-8631-388a14287caf	385cb50e-62eb-4818-961b-d2633df5debf	g.chrX:153586584G>A	ENST00000422373.1	-	28	4986	c.4738C>T	c.(4738-4740)Ctg>Ttg	p.L1580L	FLNA_ENST00000369856.3_5'UTR|FLNA_ENST00000344736.4_Silent_p.L1580L|FLNA_ENST00000369850.3_Silent_p.L1580L|FLNA_ENST00000360319.4_Silent_p.L1580L	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN	filamin A, alpha	1580	Interaction with furin (By similarity).				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TGGACAGCCAGCAGGCCCTCC	0.697													3	9					0	0	1	0	0	A	153586584	G	A	153586584	2	1	499	1	0	0	0	0	0	0	0	1	5966	962	34	2		2	FLNA	23	153586584	Silent	SNP	G	TCGA-VM-A8CF-01A-11D-A36O-08	76646918	153586584	1683976	50	37915											
REG1A	5967	broad.mit.edu	37	2	79349251	79349251	+	Splice_Site	SNP	G	G	A			TCGA-VM-A8CH-01A-12D-A36O-08	TCGA-VM-A8CH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15818586-d771-4a30-ab11-16d2fc88de2f	a34a7eab-90c7-4687-b11c-cac4197ac6e2	g.chr2:79349251G>A	ENST00000233735.1	+	4	424	c.321G>A	c.(319-321)aaG>aaA	p.K107K		NM_002909.4	NP_002900.2	P05451	REG1A_HUMAN	regenerating islet-derived 1 alpha	107	C-type lectin.				positive regulation of cell proliferation	extracellular region	growth factor activity|sugar binding			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(26)|prostate(1)|upper_aerodigestive_tract(1)	39						ACCCCAAAAAGGTAGGCTGCA	0.488													28	44					0	0	1	0	0	A	79349251	G	A	79349251	5	1	500	1	0	0	0	0	0	0	1	0	13262	1014	35	2	331	2	REG1A	2	79349251	Splice_Site	SNP	G	TCGA-VM-A8CH-01A-12D-A36O-08		79349251	163850122	1	37916											
IDH1	3417	broad.mit.edu	37	2	209113113	209113113	+	Missense_Mutation	SNP	G	G	A	rs121913499		TCGA-VM-A8CH-01A-12D-A36O-08	TCGA-VM-A8CH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15818586-d771-4a30-ab11-16d2fc88de2f	a34a7eab-90c7-4687-b11c-cac4197ac6e2	g.chr2:209113113G>A	ENST00000415913.1	-	4	775	c.394C>T	c.(394-396)Cgt>Tgt	p.R132C	IDH1_ENST00000345146.2_Missense_Mutation_p.R132C|IDH1_ENST00000446179.1_Missense_Mutation_p.R132C	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		TAAGCATGACGACCTATGATG	0.398			Mis		gliobastoma								30	43					0	0	1	0	0	A	209113113	G	A	209113113	3	1	500	1	0	0	0	0	1	0	0	0	7538	1058	37	1	878	1	IDH1	2	209113113	Missense_Mutation	SNP	G	TCGA-VM-A8CH-01A-12D-A36O-08	129763862	209113113	34086260	2	37917											
KY	339855	broad.mit.edu	37	3	134323111	134323111	+	Silent	SNP	C	C	T			TCGA-VM-A8CH-01A-12D-A36O-08	TCGA-VM-A8CH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15818586-d771-4a30-ab11-16d2fc88de2f	a34a7eab-90c7-4687-b11c-cac4197ac6e2	g.chr3:134323111C>T	ENST00000508956.1	-	10	1290	c.1233G>A	c.(1231-1233)acG>acA	p.T411T	KY_ENST00000423778.2_Silent_p.T432T|KY_ENST00000503669.1_3'UTR			Q8NBH2	KY_HUMAN	kyphoscoliosis peptidase	432						cytoskeleton|Z disc	peptidase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|lung(12)|ovary(2)|upper_aerodigestive_tract(2)	21						TGCACTTGAGCGTGTACTCCA	0.567													11	27					0	0	1	0	0	T	134323111	C	T	134323111	2	4	500	1	0	0	0	0	0	0	0	1	8625	755	27	1		1	KY	3	134323111	Silent	SNP	C	TCGA-VM-A8CH-01A-12D-A36O-08		134323111	63699319	3	37918											
HIST1H2AA	221613	broad.mit.edu	37	6	25726459	25726459	+	Silent	SNP	G	G	A			TCGA-VM-A8CH-01A-12D-A36O-08	TCGA-VM-A8CH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15818586-d771-4a30-ab11-16d2fc88de2f	a34a7eab-90c7-4687-b11c-cac4197ac6e2	g.chr6:25726459G>A	ENST00000297012.3	-	1	331	c.297C>T	c.(295-297)ggC>ggT	p.G99G		NM_170745.3	NP_734466.1	Q96QV6	H2A1A_HUMAN	histone cluster 1, H2aa	99					nucleosome assembly	nucleosome|nucleus	DNA binding			breast(1)|endometrium(2)|large_intestine(2)|lung(8)	13						TGGTCACGCCGCCCAAAAGCT	0.532													64	80					0	0	1	0	0	A	25726459	G	A	25726459	2	1	500	1	0	0	0	0	0	0	0	1	7169	1074	38	1		1	HIST1H2AA	6	25726459	Silent	SNP	G	TCGA-VM-A8CH-01A-12D-A36O-08		25726459	145388608	4	37919											
WEE2	494551	broad.mit.edu	37	7	141418984	141418984	+	Missense_Mutation	SNP	T	T	C			TCGA-VM-A8CH-01A-12D-A36O-08	TCGA-VM-A8CH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15818586-d771-4a30-ab11-16d2fc88de2f	a34a7eab-90c7-4687-b11c-cac4197ac6e2	g.chr7:141418984T>C	ENST00000397541.2	+	4	1104	c.698T>C	c.(697-699)cTg>cCg	p.L233P	WEE2-AS1_ENST00000495800.1_RNA|WEE2-AS1_ENST00000465110.1_RNA|WEE2-AS1_ENST00000478332.1_RNA|WEE2-AS1_ENST00000488785.1_RNA|WEE2-AS1_ENST00000471512.1_RNA|WEE2-AS1_ENST00000459753.1_RNA|WEE2-AS1_ENST00000462383.1_RNA	NM_001105558.1	NP_001099028.1	P0C1S8	WEE2_HUMAN	WEE1 homolog 2 (S. pombe)	233	Protein kinase.				egg activation|female meiosis|female pronucleus assembly|meiotic metaphase II|meiotic prophase I|mitosis|negative regulation of oocyte development|regulation of meiosis I	centrosome|nucleus	ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31	Melanoma(164;0.0171)					ATTAAGAGGCTGGATGGATGT	0.363													50	63					0	0	1	0	0	C	141418984	T	C	141418984	3	2	500	1	0	0	0	0	1	0	0	0	17405	1580	55	3	712	3	WEE2	7	141418984	Missense_Mutation	SNP	T	TCGA-VM-A8CH-01A-12D-A36O-08		141418984	17719679	5	37920											
KIF24	347240	broad.mit.edu	37	9	34306264	34306264	+	Missense_Mutation	SNP	G	G	T			TCGA-VM-A8CH-01A-12D-A36O-08	TCGA-VM-A8CH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15818586-d771-4a30-ab11-16d2fc88de2f	a34a7eab-90c7-4687-b11c-cac4197ac6e2	g.chr9:34306264G>T	ENST00000379166.2	-	3	918	c.799C>A	c.(799-801)Caa>Aaa	p.Q267K	KIF24_ENST00000402558.2_Missense_Mutation_p.Q267K|KIF24_ENST00000345050.2_Missense_Mutation_p.Q267K|KIF24_ENST00000379174.3_Missense_Mutation_p.Q267K	NM_194313.2	NP_919289.2	Q5T7B8	KIF24_HUMAN	kinesin family member 24	267	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(13)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	32			LUSC - Lung squamous cell carcinoma(29;0.0107)			AGAATATATTGAGTGAGGTCA	0.353													61	89					1.7104e-27	1.80542e-27	1	1	0	T	34306264	G	T	34306264	3	4	500	1	0	0	0	0	1	0	0	0	8334	1299	45	5	3351	5	KIF24	9	34306264	Missense_Mutation	SNP	G	TCGA-VM-A8CH-01A-12D-A36O-08		34306264	106907167	6	37921											
ARHGAP32	9743	broad.mit.edu	37	11	128848708	128848708	+	Silent	SNP	C	C	G			TCGA-VM-A8CH-01A-12D-A36O-08	TCGA-VM-A8CH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15818586-d771-4a30-ab11-16d2fc88de2f	a34a7eab-90c7-4687-b11c-cac4197ac6e2	g.chr11:128848708C>G	ENST00000310343.9	-	18	2036	c.2037G>C	c.(2035-2037)cgG>cgC	p.R679R	ARHGAP32_ENST00000527272.1_Silent_p.R330R|ARHGAP32_ENST00000392657.3_Silent_p.R330R|ARHGAP32_ENST00000524655.1_Silent_p.R605R	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	679					cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						CACTCTCATTCCGCTGCAGCT	0.468													15	37					0	0	1	0	0	G	128848708	C	G	128848708	2	3	500	1	0	0	0	0	0	0	0	1	878	842	30	5		5	ARHGAP32	11	128848708	Silent	SNP	C	TCGA-VM-A8CH-01A-12D-A36O-08		128848708	6157808	7	37922											
NEDD4	4734	broad.mit.edu	37	15	56208601	56208601	+	Missense_Mutation	SNP	A	A	C			TCGA-VM-A8CH-01A-12D-A36O-08	TCGA-VM-A8CH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15818586-d771-4a30-ab11-16d2fc88de2f	a34a7eab-90c7-4687-b11c-cac4197ac6e2	g.chr15:56208601A>C	ENST00000508342.1	-	1	728	c.429T>G	c.(427-429)agT>agG	p.S143R	NEDD4_ENST00000506154.1_Missense_Mutation_p.S143R|NEDD4_ENST00000435532.3_Intron|NEDD4_ENST00000338963.2_Missense_Mutation_p.S143R	NM_001284338.1	NP_001271267.1	P46934	NEDD4_HUMAN	neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase	143	Ser-rich.				development involved in symbiotic interaction|glucocorticoid receptor signaling pathway|negative regulation of sodium ion transport|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage|negative regulation of vascular endothelial growth factor receptor signaling pathway|neuron projection development|positive regulation of nucleocytoplasmic transport|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein catabolic process|progesterone receptor signaling pathway|protein K63-linked ubiquitination|protein targeting to lysosome|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|receptor internalization|regulation of dendrite morphogenesis|response to calcium ion|transmission of virus	apicolateral plasma membrane|cell cortex|chromatin|cytosol|perinuclear region of cytoplasm|ubiquitin ligase complex	beta-2 adrenergic receptor binding|phosphoserine binding|phosphothreonine binding|proline-rich region binding|protein domain specific binding|RNA polymerase binding|sodium channel inhibitor activity|ubiquitin binding|ubiquitin-protein ligase activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	43				all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)		AAATGGCTGGACTGCTTACAA	0.408													74	88					0	0	1	0	0	C	56208601	A	C	56208601	3	2	500	1	0	0	0	0	1	0	0	0	10357	272	10	5	3630	5	NEDD4	15	56208601	Missense_Mutation	SNP	A	TCGA-VM-A8CH-01A-12D-A36O-08		56208601	46322791	8	37923											
MEGF11	84465	broad.mit.edu	37	15	66210374	66210374	+	Translation_Start_Site	SNP	G	G	A			TCGA-VM-A8CH-01A-12D-A36O-08	TCGA-VM-A8CH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15818586-d771-4a30-ab11-16d2fc88de2f	a34a7eab-90c7-4687-b11c-cac4197ac6e2	g.chr15:66210374G>A	ENST00000395614.1	-	0	2076				MEGF11_ENST00000395625.2_Silent_p.N597N|MEGF11_ENST00000288745.3_Silent_p.N597N|MEGF11_ENST00000422354.1_Silent_p.N672N|MEGF11_ENST00000360698.4_Silent_p.N672N|MEGF11_ENST00000409699.2_Silent_p.N672N			A6BM72	MEG11_HUMAN	multiple EGF-like-domains 11							basolateral plasma membrane|integral to membrane				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	19						TGCAGGTCCCGTTGTTGGCAC	0.612													14	26					0	0	1	0	0	A	66210374	G	A	66210374	1	1	500	1	0	0	0	0	0	0	0	0	9511	1136	40	1		1	MEGF11	15	66210374	Translation_Start_Site	SNP	G	TCGA-VM-A8CH-01A-12D-A36O-08	10001773	66210374	36321018	9	37924											
PDILT	204474	broad.mit.edu	37	16	20410472	20410472	+	Missense_Mutation	SNP	C	C	T			TCGA-VM-A8CH-01A-12D-A36O-08	TCGA-VM-A8CH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15818586-d771-4a30-ab11-16d2fc88de2f	a34a7eab-90c7-4687-b11c-cac4197ac6e2	g.chr16:20410472C>T	ENST00000302451.4	-	2	399	c.151G>A	c.(151-153)Gct>Act	p.A51T		NM_174924.1	NP_777584.1	Q8N807	PDILT_HUMAN	protein disulfide isomerase-like, testis expressed	51					cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity	p.A51T(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						GTCAGGCCAGCGGGCGTTAGC	0.577													46	57					0	0	1	0	0	T	20410472	C	T	20410472	3	4	500	1	0	0	0	0	1	0	0	0	11721	768	27	1	1647	1	PDILT	16	20410472	Missense_Mutation	SNP	C	TCGA-VM-A8CH-01A-12D-A36O-08		20410472	69944281	10	37925											
WDR81	124997	broad.mit.edu	37	17	1633762	1633762	+	Translation_Start_Site	SNP	G	G	A			TCGA-VM-A8CH-01A-12D-A36O-08	TCGA-VM-A8CH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15818586-d771-4a30-ab11-16d2fc88de2f	a34a7eab-90c7-4687-b11c-cac4197ac6e2	g.chr17:1633762G>A	ENST00000545662.1	+	0	8				WDR81_ENST00000409644.1_Silent_p.L1252L|WDR81_ENST00000437219.2_Silent_p.L49L|WDR81_ENST00000419248.1_Silent_p.L25L|RP11-961A15.1_ENST00000576540.1_RNA|WDR81_ENST00000446363.1_Intron|WDR81_ENST00000309182.5_Silent_p.L201L			B3KXU1	B3KXU1_HUMAN	WD repeat domain 81											cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		TGCTCCGCCTGCTGACGTCTT	0.647													10	13					0	0	1	0	0	A	1633762	G	A	1633762	1	1	500	1	0	0	0	0	0	0	0	0	17390	1306	46	2		2	WDR81	17	1633762	Translation_Start_Site	SNP	G	TCGA-VM-A8CH-01A-12D-A36O-08		1633762	79561448	11	37926											
KRT23	25984	broad.mit.edu	37	17	39092548	39092548	+	Missense_Mutation	SNP	C	C	T			TCGA-VM-A8CH-01A-12D-A36O-08	TCGA-VM-A8CH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15818586-d771-4a30-ab11-16d2fc88de2f	a34a7eab-90c7-4687-b11c-cac4197ac6e2	g.chr17:39092548C>T	ENST00000209718.3	-	2	732	c.308G>A	c.(307-309)cGc>cAc	p.R103H	AC004231.2_ENST00000418393.1_RNA|KRT23_ENST00000436344.3_Intron	NM_015515.3	NP_056330.3	Q9C075	K1C23_HUMAN	keratin 23 (histone deacetylase inducible)	103	Coil 1A.|Rod.					intermediate filament	structural molecule activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000301)|Ovarian(249;0.15)				TTTCAGGATGCGGCTTTCCAG	0.542													4	122					0	0	1	0	0	T	39092548	C	T	39092548	3	4	500	1	0	0	0	0	1	0	0	0	8503	768	27	1	992	1	KRT23	17	39092548	Missense_Mutation	SNP	C	TCGA-VM-A8CH-01A-12D-A36O-08	37458786	39092548	42102662	12	37927											
FASN	2194	broad.mit.edu	37	17	80040931	80040931	+	Missense_Mutation	SNP	T	T	C			TCGA-VM-A8CH-01A-12D-A36O-08	TCGA-VM-A8CH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15818586-d771-4a30-ab11-16d2fc88de2f	a34a7eab-90c7-4687-b11c-cac4197ac6e2	g.chr17:80040931T>C	ENST00000306749.2	-	33	5844	c.5626A>G	c.(5626-5628)Atc>Gtc	p.I1876V	FASN_ENST00000579758.1_5'UTR	NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	1876	Beta-ketoacyl reductase (By similarity).				energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	cytosol|Golgi apparatus|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)	GTCTTGGAGATGGCCGACATC	0.647													24	18					0	0	1	0	0	C	80040931	T	C	80040931	3	2	500	1	0	0	0	0	1	0	0	0	5716	1464	51	3	1953	3	FASN	17	80040931	Missense_Mutation	SNP	T	TCGA-VM-A8CH-01A-12D-A36O-08	40948383	80040931	1154279	13	37928											
ATRX	546	broad.mit.edu	37	X	76938201	76938202	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-VM-A8CH-01A-12D-A36O-08	TCGA-VM-A8CH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15818586-d771-4a30-ab11-16d2fc88de2f	a34a7eab-90c7-4687-b11c-cac4197ac6e2	g.chrX:76938201_76938202delAG	ENST00000373344.5	-	9	2760_2761	c.2546_2547delCT	c.(2545-2547)tctfs	p.S850fs	ATRX_ENST00000395603.3_Frame_Shift_Del_p.S812fs|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	850					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)	CATCTTCAGAAGAGTCAAAATC	0.342			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						123	56	---	---	---	---						-	76938202	AG	-	76938201	7	5	500	1	0	1	0	1	0	0	0	0	1206	59	3	0	5039	0	ATRX	23	76938201	Frame_Shift_Del	DEL	AG	TCGA-VM-A8CH-01A-12D-A36O-08		76938201	78332359	14	37929											
SNX27	81609	broad.mit.edu	37	1	151640951	151640951	+	Missense_Mutation	SNP	G	G	A			TCGA-VV-A829-01A-21D-A36O-08	TCGA-VV-A829-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2412e01f-41e2-48c7-849c-ecc2851b08d4	32471810-2274-4b01-b96f-37db7286333f	g.chr1:151640951G>A	ENST00000368843.3	+	7	1109	c.989G>A	c.(988-990)cGt>cAt	p.R330H	SNX27_ENST00000368838.1_Missense_Mutation_p.R237H|SNX27_ENST00000482791.1_3'UTR|SNX27_ENST00000458013.2_Missense_Mutation_p.R330H	NM_030918.5	NP_112180.4	Q96L92	SNX27_HUMAN	sorting nexin family member 27	330	Ras-associating.				cell communication|protein transport|signal transduction	cytosol|early endosome	phosphatidylinositol binding|protein binding			central_nervous_system(1)|large_intestine(2)|ovary(2)	5	Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			CCTTTAGTACGTAAATTGGCA	0.378													41	66					0	0	1	0	0	A	151640951	G	A	151640951	3	1	501	1	0	0	0	0	1	0	0	0	14951	1145	40	1	1015	1	SNX27	1	151640951	Missense_Mutation	SNP	G	TCGA-VV-A829-01A-21D-A36O-08		151640951	97609670	1	37930											
FLG	2312	broad.mit.edu	37	1	152280155	152280155	+	Missense_Mutation	SNP	G	G	A			TCGA-VV-A829-01A-21D-A36O-08	TCGA-VV-A829-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2412e01f-41e2-48c7-849c-ecc2851b08d4	32471810-2274-4b01-b96f-37db7286333f	g.chr1:152280155G>A	ENST00000368799.1	-	3	7242	c.7207C>T	c.(7207-7209)Cgg>Tgg	p.R2403W	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2403	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCTGCTGACCGGCCACGTGTG	0.597									Ichthyosis				131	89					0	0	1	0	0	A	152280155	G	A	152280155	3	1	501	1	0	0	0	0	1	0	0	0	5955	1115	39	1	4982	1	FLG	1	152280155	Missense_Mutation	SNP	G	TCGA-VV-A829-01A-21D-A36O-08	639204	152280155	96970466	2	37931											
HAX1	10456	broad.mit.edu	37	1	154246290	154246290	+	Translation_Start_Site	SNP	A	A	T			TCGA-VV-A829-01A-21D-A36O-08	TCGA-VV-A829-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2412e01f-41e2-48c7-849c-ecc2851b08d4	32471810-2274-4b01-b96f-37db7286333f	g.chr1:154246290A>T	ENST00000532105.1	+	0	150				HAX1_ENST00000483970.2_Silent_p.L127L|HAX1_ENST00000328703.7_Silent_p.L119L|HAX1_ENST00000457918.2_Silent_p.L71L			O00165	HAX1_HUMAN	HCLS1 associated protein X-1							actin cytoskeleton|cytoplasmic membrane-bounded vesicle|lamellipodium|mitochondrion|nuclear membrane|sarcoplasmic reticulum|soluble fraction	interleukin-1 binding|protein N-terminus binding			cervix(1)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	15	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			GTGAGAGACTACGGGAGGGAC	0.512									Kostmann syndrome				4	82					0	0	1	0	0	T	154246290	A	T	154246290	1	4	501	1	0	0	0	0	0	0	0	0	7016	378	14	5		5	HAX1	1	154246290	Translation_Start_Site	SNP	A	TCGA-VV-A829-01A-21D-A36O-08	1966135	154246290	95004331	3	37932											
CFHR4	10877	broad.mit.edu	37	1	196887466	196887466	+	Missense_Mutation	SNP	C	C	T			TCGA-VV-A829-01A-21D-A36O-08	TCGA-VV-A829-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2412e01f-41e2-48c7-849c-ecc2851b08d4	32471810-2274-4b01-b96f-37db7286333f	g.chr1:196887466C>T	ENST00000367416.2	+	10	1801	c.1664C>T	c.(1663-1665)gCg>gTg	p.A555V	CFHR4_ENST00000367418.2_Missense_Mutation_p.A309V|CFHR2_ENST00000367421.3_Intron|CFHR4_ENST00000251424.4_Missense_Mutation_p.A309V|CFHR4_ENST00000608469.1_Missense_Mutation_p.A179V	NM_001201550.2|NM_001201551.1	NP_001188479.1|NP_001188480.1			complement factor H-related 4											NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	36						GGATATAATGCGAATACATCA	0.338													33	86					0	0	1	0	0	T	196887466	C	T	196887466	3	4	501	1	0	0	0	0	1	0	0	0	3309	768	27	1	948	1	CFHR4	1	196887466	Missense_Mutation	SNP	C	TCGA-VV-A829-01A-21D-A36O-08	42641176	196887466	52363155	4	37933											
RAD51AP2	729475	broad.mit.edu	37	2	17698690	17698690	+	Silent	SNP	G	G	A			TCGA-VV-A829-01A-21D-A36O-08	TCGA-VV-A829-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2412e01f-41e2-48c7-849c-ecc2851b08d4	32471810-2274-4b01-b96f-37db7286333f	g.chr2:17698690G>A	ENST00000399080.2	-	1	1016	c.993C>T	c.(991-993)taC>taT	p.Y331Y		NM_001099218.2	NP_001092688.1	Q09MP3	R51A2_HUMAN	RAD51 associated protein 2	331										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TGAGTGATGGGTAGTCATTTT	0.343													6	81					0	0	1	0	0	A	17698690	G	A	17698690	2	1	501	1	0	0	0	0	0	0	0	1	13039	1256	44	2		2	RAD51AP2	2	17698690	Silent	SNP	G	TCGA-VV-A829-01A-21D-A36O-08		17698690	225500683	5	37934											
DYSF	8291	broad.mit.edu	37	2	71896841	71896841	+	Silent	SNP	C	C	T			TCGA-VV-A829-01A-21D-A36O-08	TCGA-VV-A829-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2412e01f-41e2-48c7-849c-ecc2851b08d4	32471810-2274-4b01-b96f-37db7286333f	g.chr2:71896841C>T	ENST00000258104.3	+	50	5909	c.5632C>T	c.(5632-5634)Ctg>Ttg	p.L1878L	DYSF_ENST00000410020.3_Silent_p.L1917L|DYSF_ENST00000409582.3_Silent_p.L1916L|DYSF_ENST00000409366.1_Silent_p.L1900L|DYSF_ENST00000394120.2_Silent_p.L1879L|DYSF_ENST00000409651.1_Silent_p.L1910L|DYSF_ENST00000410041.1_Silent_p.L1896L|DYSF_ENST00000413539.2_Silent_p.L1909L|DYSF_ENST00000409744.1_Silent_p.L1886L|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000429174.2_Silent_p.L1899L|DYSF_ENST00000409762.1_Silent_p.L1895L	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1878						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						CTTCGACTACCTGCCAGCTGA	0.512													25	50					0	0	1	0	0	T	71896841	C	T	71896841	2	4	501	1	0	0	0	0	0	0	0	1	4885	680	24	2		2	DYSF	2	71896841	Silent	SNP	C	TCGA-VV-A829-01A-21D-A36O-08	54198151	71896841	171302532	6	37935											
C2orf76	130355	broad.mit.edu	37	2	120078765	120078765	+	Missense_Mutation	SNP	G	G	C			TCGA-VV-A829-01A-21D-A36O-08	TCGA-VV-A829-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2412e01f-41e2-48c7-849c-ecc2851b08d4	32471810-2274-4b01-b96f-37db7286333f	g.chr2:120078765G>C	ENST00000409466.2	-	4	670	c.149C>G	c.(148-150)aCc>aGc	p.T50S	C2orf76_ENST00000409877.1_Missense_Mutation_p.T50S|C2orf76_ENST00000409523.1_Missense_Mutation_p.T50S|C2orf76_ENST00000334816.7_Missense_Mutation_p.T50S			Q3KRA6	CB076_HUMAN	chromosome 2 open reading frame 76	50										large_intestine(1)|lung(3)|pancreas(1)	5						TGGCAGGTTGGTCCTTAAAGG	0.269													17	27					0	0	1	0	0	C	120078765	G	C	120078765	3	2	501	1	0	0	0	0	1	0	0	0	2207	1261	44	5	247	5	C2orf76	2	120078765	Missense_Mutation	SNP	G	TCGA-VV-A829-01A-21D-A36O-08	48181924	120078765	123120608	7	37936											
RAB3GAP1	22930	broad.mit.edu	37	2	135911420	135911420	+	Missense_Mutation	SNP	T	T	C			TCGA-VV-A829-01A-21D-A36O-08	TCGA-VV-A829-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2412e01f-41e2-48c7-849c-ecc2851b08d4	32471810-2274-4b01-b96f-37db7286333f	g.chr2:135911420T>C	ENST00000264158.8	+	19	2306	c.2263T>C	c.(2263-2265)Ttt>Ctt	p.F755L	RAB3GAP1_ENST00000487003.1_3'UTR|RAB3GAP1_ENST00000539493.1_Missense_Mutation_p.F711L|ZRANB3_ENST00000412849.1_Intron|RAB3GAP1_ENST00000442034.1_Missense_Mutation_p.F755L	NM_012233.2	NP_036365.1	Q15042	RB3GP_HUMAN	RAB3 GTPase activating protein subunit 1 (catalytic)	755						centrosome|nucleus|soluble fraction	Rab GTPase activator activity|Rab GTPase binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32				BRCA - Breast invasive adenocarcinoma(221;0.117)		AAGGAGACTCTTTGATGATAC	0.418													4	56					0	0	1	0	0	C	135911420	T	C	135911420	3	2	501	1	0	0	0	0	1	0	0	0	12987	1609	56	3	2337	3	RAB3GAP1	2	135911420	Missense_Mutation	SNP	T	TCGA-VV-A829-01A-21D-A36O-08	15832655	135911420	107287953	8	37937											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-VV-A829-01A-21D-A36O-08	TCGA-VV-A829-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2412e01f-41e2-48c7-849c-ecc2851b08d4	32471810-2274-4b01-b96f-37db7286333f	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								21	38					0	0	1	0	0	T	209113112	C	T	209113112	3	4	501	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-VV-A829-01A-21D-A36O-08	73201692	209113112	34086261	9	37938											
FAM194A	131831	broad.mit.edu	37	3	150396333	150396333	+	Missense_Mutation	SNP	G	G	A			TCGA-VV-A829-01A-21D-A36O-08	TCGA-VV-A829-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2412e01f-41e2-48c7-849c-ecc2851b08d4	32471810-2274-4b01-b96f-37db7286333f	g.chr3:150396333G>A	ENST00000295910.6	-	10	1172	c.1120C>T	c.(1120-1122)Cgc>Tgc	p.R374C	FAM194A_ENST00000491361.1_Missense_Mutation_p.R228C	NM_152394.3	NP_689607.2	Q7L0X2	F194A_HUMAN	family with sequence similarity 194, member A	374										NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						GTTTTTAAGCGCTTTGAATCT	0.269													18	45					0	0	1	0	0	A	150396333	G	A	150396333	3	1	501	1	0	0	0	0	1	0	0	0	5558	1087	38	1	891	1	FAM194A	3	150396333	Missense_Mutation	SNP	G	TCGA-VV-A829-01A-21D-A36O-08		150396333	47626097	10	37939											
RTP1	132112	broad.mit.edu	37	3	186917640	186917640	+	Missense_Mutation	SNP	G	G	A			TCGA-VV-A829-01A-21D-A36O-08	TCGA-VV-A829-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2412e01f-41e2-48c7-849c-ecc2851b08d4	32471810-2274-4b01-b96f-37db7286333f	g.chr3:186917640G>A	ENST00000312295.4	+	2	604	c.574G>A	c.(574-576)Gag>Aag	p.E192K	RP11-208N14.4_ENST00000356133.3_RNA	NM_153708.2	NP_714919.2	P59025	RTP1_HUMAN	receptor (chemosensory) transporter protein 1	192					protein insertion into membrane	cell surface|integral to membrane|plasma membrane	olfactory receptor binding			breast(2)|endometrium(4)|large_intestine(5)|lung(6)|ovary(3)|skin(2)	22	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.56e-18)	GBM - Glioblastoma multiforme(93;0.0269)		AGAGTTCTGCGAGGCCTGCCA	0.701													27	16					0	0	1	0	0	A	186917640	G	A	186917640	3	1	501	1	0	0	0	0	1	0	0	0	13785	1059	37	1	580	1	RTP1	3	186917640	Missense_Mutation	SNP	G	TCGA-VV-A829-01A-21D-A36O-08	36521307	186917640	11104790	11	37940											
MAN2B2	23324	broad.mit.edu	37	4	6596402	6596402	+	Missense_Mutation	SNP	G	G	A			TCGA-VV-A829-01A-21D-A36O-08	TCGA-VV-A829-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2412e01f-41e2-48c7-849c-ecc2851b08d4	32471810-2274-4b01-b96f-37db7286333f	g.chr4:6596402G>A	ENST00000285599.3	+	7	1036	c.1000G>A	c.(1000-1002)Gct>Act	p.A334T	MAN2B2_ENST00000504248.1_Missense_Mutation_p.A283T	NM_015274.1	NP_056089.1	Q9Y2E5	MA2B2_HUMAN	mannosidase, alpha, class 2B, member 2	334					mannose metabolic process	extracellular region	alpha-mannosidase activity|carbohydrate binding|zinc ion binding			breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	30						TGCCCTGCACGCTCTCAATGT	0.622													8	23					0	0	1	0	0	A	6596402	G	A	6596402	3	1	501	1	0	0	0	0	1	0	0	0	9267	1087	38	1	1026	1	MAN2B2	4	6596402	Missense_Mutation	SNP	G	TCGA-VV-A829-01A-21D-A36O-08		6596402	184557874	12	37941											
ARSJ	79642	broad.mit.edu	37	4	114899934	114899934	+	Silent	SNP	G	G	A			TCGA-VV-A829-01A-21D-A36O-08	TCGA-VV-A829-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2412e01f-41e2-48c7-849c-ecc2851b08d4	32471810-2274-4b01-b96f-37db7286333f	g.chr4:114899934G>A	ENST00000315366.7	-	1	923	c.57C>T	c.(55-57)gtC>gtT	p.V19V	ARSJ_ENST00000503013.2_5'UTR|ARSJ_ENST00000541197.1_Silent_p.V19V	NM_024590.3	NP_078866.3	Q5FYB0	ARSJ_HUMAN	arylsulfatase family, member J	19						extracellular region	arylsulfatase activity|metal ion binding			endometrium(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	21		Ovarian(17;0.0035)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00194)		TTCCAGGACAGACACAGGCCT	0.627													6	152					0	0	1	0	0	A	114899934	G	A	114899934	2	1	501	1	0	0	0	0	0	0	0	1	994	929	33	2		2	ARSJ	4	114899934	Silent	SNP	G	TCGA-VV-A829-01A-21D-A36O-08	108303532	114899934	76254342	13	37942											
EDNRA	1909	broad.mit.edu	37	4	148407074	148407074	+	Missense_Mutation	SNP	T	T	G			TCGA-VV-A829-01A-21D-A36O-08	TCGA-VV-A829-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2412e01f-41e2-48c7-849c-ecc2851b08d4	32471810-2274-4b01-b96f-37db7286333f	g.chr4:148407074T>G	ENST00000324300.5	+	2	756	c.241T>G	c.(241-243)Tac>Gac	p.Y81D	EDNRA_ENST00000506066.1_Missense_Mutation_p.Y81D|EDNRA_ENST00000511804.1_Intron|EDNRA_ENST00000358556.4_Missense_Mutation_p.Y81D|EDNRA_ENST00000339690.5_Missense_Mutation_p.Y81D	NM_001957.3	NP_001948.1	P25101	EDNRA_HUMAN	endothelin receptor type A	81					activation of adenylate cyclase activity|artery smooth muscle contraction|cell proliferation|glucose transport|respiratory gaseous exchange	integral to plasma membrane	endothelin-A receptor activity|phosphatidylinositol phospholipase C activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1)	17	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.154)	Bosentan(DB00559)	AGCTTTCAAATACATTAACAC	0.418													4	118					0	0	1	0	0	G	148407074	T	G	148407074	3	3	501	1	0	0	0	0	1	0	0	0	4945	1406	49	4	243	4	EDNRA	4	148407074	Missense_Mutation	SNP	T	TCGA-VV-A829-01A-21D-A36O-08	33507140	148407074	42747202	14	37943											
DST	667	broad.mit.edu	37	6	56484991	56484994	+	Frame_Shift_Del	DEL	TCTT	TCTT	-			TCGA-VV-A829-01A-21D-A36O-08	TCGA-VV-A829-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2412e01f-41e2-48c7-849c-ecc2851b08d4	32471810-2274-4b01-b96f-37db7286333f	g.chr6:56484991_56484994delTCTT	ENST00000370765.6	-	23	3945_3948	c.3838_3841delAAGA	c.(3838-3843)aagagafs	p.KR1280fs	DST_ENST00000370788.2_Intron|DST_ENST00000370754.5_Intron|DST_ENST00000361203.3_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000370769.4_Intron|DST_ENST00000446842.2_Intron|DST_ENST00000312431.6_Intron|DST_ENST00000421834.2_Intron	NM_001723.5	NP_001714.1	Q03001	DYST_HUMAN	dystonin	4932					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TCATTGTCTCTCTTTCTTCTTAAT	0.338													32	49	---	---	---	---						-	56484994	TCTT	-	56484991	7	5	501	1	0	1	0	1	0	0	0	0	4809	1559	54	0	16562	0	DST	6	56484991	Frame_Shift_Del	DEL	TCTT	TCGA-VV-A829-01A-21D-A36O-08		56484991	114630076	15	37944											
ESR1	2099	broad.mit.edu	37	6	152419955	152419955	+	Missense_Mutation	SNP	C	C	T			TCGA-VV-A829-01A-21D-A36O-08	TCGA-VV-A829-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2412e01f-41e2-48c7-849c-ecc2851b08d4	32471810-2274-4b01-b96f-37db7286333f	g.chr6:152419955C>T	ENST00000440973.1	+	10	2012	c.1642C>T	c.(1642-1644)Cgc>Tgc	p.R548C	ESR1_ENST00000406599.1_Missense_Mutation_p.R287C|ESR1_ENST00000206249.3_Missense_Mutation_p.R548C|ESR1_ENST00000338799.5_Missense_Mutation_p.R548C|ESR1_ENST00000427531.2_Intron|ESR1_ENST00000456483.2_Missense_Mutation_p.R436C|ESR1_ENST00000443427.1_Missense_Mutation_p.R548C	NM_001122742.1	NP_001116214.1	P03372	ESR1_HUMAN	estrogen receptor 1	548	Interaction with AKAP13.|Steroid-binding.				positive regulation of retinoic acid receptor signaling pathway|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to estradiol stimulus	chromatin remodeling complex|cytoplasm|nucleoplasm	beta-catenin binding|enzyme binding|estrogen receptor activity|estrogen response element binding|nitric-oxide synthase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(19)|ovary(1)|prostate(2)|skin(1)	49		Ovarian(120;0.0448)	BRCA - Breast invasive adenocarcinoma(37;0.0841)	OV - Ovarian serous cystadenocarcinoma(155;4.55e-10)	Chlorotrianisene(DB00269)|Clomifene(DB00882)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Desogestrel(DB00304)|Dienestrol(DB00890)|Diethylstilbestrol(DB00255)|Dromostanolone(DB00858)|Drospirenone(DB01395)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Fluoxymesterone(DB01185)|Fulvestrant(DB00947)|Letrozole(DB01006)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Melatonin(DB01065)|Mestranol(DB01357)|Naloxone(DB01183)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)|Quinestrol(DB04575)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Toremifene(DB00539)	GGACGCCCACCGCCTACATGC	0.577													12	17					0	0	1	0	0	T	152419955	C	T	152419955	3	4	501	1	0	0	0	0	1	0	0	0	5284	652	23	1	1672	1	ESR1	6	152419955	Missense_Mutation	SNP	C	TCGA-VV-A829-01A-21D-A36O-08	95934964	152419955	18695112	16	37945											
FNDC1	84624	broad.mit.edu	37	6	159657261	159657261	+	Missense_Mutation	SNP	C	C	G			TCGA-VV-A829-01A-21D-A36O-08	TCGA-VV-A829-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2412e01f-41e2-48c7-849c-ecc2851b08d4	32471810-2274-4b01-b96f-37db7286333f	g.chr6:159657261C>G	ENST00000297267.9	+	12	4182	c.3982C>G	c.(3982-3984)Cca>Gca	p.P1328A	FNDC1_ENST00000340366.6_Missense_Mutation_p.P1265A	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	1328						extracellular region				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		TAATGGCAGACCAAATGTAGA	0.408													14	17					0	0	1	0	0	G	159657261	C	G	159657261	3	3	501	1	0	0	0	0	1	0	0	0	6001	507	18	5	4028	5	FNDC1	6	159657261	Missense_Mutation	SNP	C	TCGA-VV-A829-01A-21D-A36O-08	7237306	159657261	11457806	17	37946											
ZAN	7455	broad.mit.edu	37	7	100348461	100348461	+	RNA	SNP	G	G	A			TCGA-VV-A829-01A-21D-A36O-08	TCGA-VV-A829-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2412e01f-41e2-48c7-849c-ecc2851b08d4	32471810-2274-4b01-b96f-37db7286333f	g.chr7:100348461G>A	ENST00000542585.1	+	0	1611				ZAN_ENST00000349350.6_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000427578.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			GGGTCTCAGCGCCCTTACTGG	0.622													17	21					0	0	1	0	0	A	100348461	G	A	100348461	1	1	501	0	1	0	0	0	0	0	0	0	17573	1087	38	1		1	ZAN	7	100348461	RNA	SNP	G	TCGA-VV-A829-01A-21D-A36O-08		100348461	58790202	18	37947											
NOTCH1	4851	broad.mit.edu	37	9	139407856	139407856	+	Frame_Shift_Del	DEL	C	C	-			TCGA-VV-A829-01A-21D-A36O-08	TCGA-VV-A829-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2412e01f-41e2-48c7-849c-ecc2851b08d4	32471810-2274-4b01-b96f-37db7286333f	g.chr9:139407856delC	ENST00000277541.6	-	14	2416	c.2341delG	c.(2341-2343)gagfs	p.E781fs		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	781	EGF-like 20.				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CTGAAGCCCTCCCGGCAGGTG	0.607			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			10	18	---	---	---	---						-	139407856	C	-	139407856	7	5	501	1	0	1	0	1	0	0	0	0	10594	864	30	0	5410	0	NOTCH1	9	139407856	Frame_Shift_Del	DEL	C	TCGA-VV-A829-01A-21D-A36O-08		139407856	1805575	19	37948											
PPRC1	23082	broad.mit.edu	37	10	103900609	103900609	+	Missense_Mutation	SNP	C	C	T			TCGA-VV-A829-01A-21D-A36O-08	TCGA-VV-A829-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2412e01f-41e2-48c7-849c-ecc2851b08d4	32471810-2274-4b01-b96f-37db7286333f	g.chr10:103900609C>T	ENST00000278070.2	+	5	2383	c.2344C>T	c.(2344-2346)Ctt>Ttt	p.L782F	PPRC1_ENST00000413464.2_Missense_Mutation_p.L782F	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	782	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		GTGGCCTAGCCTTCCAGAGAC	0.582													38	40					0	0	1	0	0	T	103900609	C	T	103900609	3	4	501	1	0	0	0	0	1	0	0	0	12459	681	24	2	2362	2	PPRC1	10	103900609	Missense_Mutation	SNP	C	TCGA-VV-A829-01A-21D-A36O-08		103900609	31634138	20	37949											
OR5AS1	219447	broad.mit.edu	37	11	55797924	55797924	+	Silent	SNP	T	T	C			TCGA-VV-A829-01A-21D-A36O-08	TCGA-VV-A829-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2412e01f-41e2-48c7-849c-ecc2851b08d4	32471810-2274-4b01-b96f-37db7286333f	g.chr11:55797924T>C	ENST00000313555.1	+	1	30	c.30T>C	c.(28-30)acT>acC	p.T10T		NM_001001921.1	NP_001001921.1	Q8N127	O5AS1_HUMAN	olfactory receptor, family 5, subfamily AS, member 1	10					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1)	48	Esophageal squamous(21;0.00693)					CCATGCCAACTGAGTTCCTAT	0.383													18	47					0	0	1	0	0	C	55797924	T	C	55797924	2	2	501	1	0	0	0	0	0	0	0	1	11193	1567	55	3		3	OR5AS1	11	55797924	Silent	SNP	T	TCGA-VV-A829-01A-21D-A36O-08		55797924	79208592	21	37950											
APOA4	337	broad.mit.edu	37	11	116692097	116692097	+	Missense_Mutation	SNP	T	T	C			TCGA-VV-A829-01A-21D-A36O-08	TCGA-VV-A829-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2412e01f-41e2-48c7-849c-ecc2851b08d4	32471810-2274-4b01-b96f-37db7286333f	g.chr11:116692097T>C	ENST00000357780.3	-	3	791	c.677A>G	c.(676-678)tAt>tGt	p.Y226C		NM_000482.3	NP_000473.2			apolipoprotein A-IV											cervix(1)|endometrium(2)|lung(10)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	20	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148)		GTCCTGAGCATAGGGAGCCAG	0.592													7	164					0	0	1	0	0	C	116692097	T	C	116692097	3	2	501	1	0	0	0	0	1	0	0	0	780	1406	49	3	517	3	APOA4	11	116692097	Missense_Mutation	SNP	T	TCGA-VV-A829-01A-21D-A36O-08	60894173	116692097	18314419	22	37951											
TAS2R7	50837	broad.mit.edu	37	12	10954500	10954500	+	Missense_Mutation	SNP	C	C	T			TCGA-VV-A829-01A-21D-A36O-08	TCGA-VV-A829-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2412e01f-41e2-48c7-849c-ecc2851b08d4	32471810-2274-4b01-b96f-37db7286333f	g.chr12:10954500C>T	ENST00000240687.2	-	1	726	c.670G>A	c.(670-672)Gac>Aac	p.D224N		NM_023919.2	NP_076408.1	Q9NYW3	TA2R7_HUMAN	taste receptor, type 2, member 7	224					sensory perception of taste	integral to membrane	taste receptor activity			kidney(1)|large_intestine(1)|lung(3)|skin(2)|stomach(3)	10						GTGCTGGGGTCTCTGCACCCT	0.517													23	22					0	0	1	0	0	T	10954500	C	T	10954500	3	4	501	1	0	0	0	0	1	0	0	0	15643	913	32	2	290	2	TAS2R7	12	10954500	Missense_Mutation	SNP	C	TCGA-VV-A829-01A-21D-A36O-08		10954500	122897395	23	37952											
ESYT1	23344	broad.mit.edu	37	12	56525276	56525276	+	Missense_Mutation	SNP	C	C	T			TCGA-VV-A829-01A-21D-A36O-08	TCGA-VV-A829-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2412e01f-41e2-48c7-849c-ecc2851b08d4	32471810-2274-4b01-b96f-37db7286333f	g.chr12:56525276C>T	ENST00000394048.5	+	6	994	c.730C>T	c.(730-732)Cgg>Tgg	p.R244W	ESYT1_ENST00000541590.1_Missense_Mutation_p.R244W|ESYT1_ENST00000267113.4_Missense_Mutation_p.R244W	NM_001184796.1|NM_015292.2	NP_001171725.1|NP_056107.1	Q9BSJ8	ESYT1_HUMAN	extended synaptotagmin-like protein 1	244						integral to membrane				breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	28						TGGCGTTTTGCGGGTGATACT	0.517													4	180					0	0	1	0	0	T	56525276	C	T	56525276	3	4	501	1	0	0	0	0	1	0	0	0	5292	759	27	1	752	1	ESYT1	12	56525276	Missense_Mutation	SNP	C	TCGA-VV-A829-01A-21D-A36O-08	45570776	56525276	77326619	24	37953											
TMPO	7112	broad.mit.edu	37	12	98927458	98927458	+	Missense_Mutation	SNP	G	G	A			TCGA-VV-A829-01A-21D-A36O-08	TCGA-VV-A829-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2412e01f-41e2-48c7-849c-ecc2851b08d4	32471810-2274-4b01-b96f-37db7286333f	g.chr12:98927458G>A	ENST00000266732.4	+	4	1661	c.1423G>A	c.(1423-1425)Gaa>Aaa	p.E475K	TMPO_ENST00000343315.5_Intron|TMPO_ENST00000393053.2_Intron|TMPO_ENST00000261210.5_Intron|TMPO_ENST00000556029.1_Intron	NM_003276.2	NP_003267.1	P42167	LAP2B_HUMAN	thymopoietin	0						integral to membrane|nuclear inner membrane	DNA binding|lamin binding	p.E475*(1)		breast(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						CTTAGGTCTAGAAGTGGCTAA	0.388													29	41					0	0	1	0	0	A	98927458	G	A	98927458	3	1	501	1	0	0	0	0	1	0	0	0	16297	943	33	2	1437	2	TMPO	12	98927458	Missense_Mutation	SNP	G	TCGA-VV-A829-01A-21D-A36O-08	42402182	98927458	34924437	25	37954											
APEX1	328	broad.mit.edu	37	14	20925577	20925577	+	Missense_Mutation	SNP	C	C	G			TCGA-VV-A829-01A-21D-A36O-08	TCGA-VV-A829-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2412e01f-41e2-48c7-849c-ecc2851b08d4	32471810-2274-4b01-b96f-37db7286333f	g.chr14:20925577C>G	ENST00000216714.3	+	5	1135	c.867C>G	c.(865-867)caC>caG	p.H289Q	APEX1_ENST00000398030.4_Missense_Mutation_p.H289Q|APEX1_ENST00000555414.1_Missense_Mutation_p.H289Q|APEX1_ENST00000557054.1_3'UTR	NM_001244249.1|NM_001641.3	NP_001231178.1|NP_001632.2	P27695	APEX1_HUMAN	APEX nuclease (multifunctional DNA repair enzyme) 1	289	Mitochondrial targeting sequence (MTS).				base-excision repair|DNA demethylation|DNA recombination|positive regulation of anti-apoptosis|positive regulation of DNA repair|regulation of mRNA stability|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|endoplasmic reticulum|mitochondrion|nuclear speck|nucleolus|perinuclear region of cytoplasm|ribosome	3'-5' exonuclease activity|chromatin DNA binding|damaged DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|metal ion binding|oxidoreductase activity|phosphodiesterase I activity|protein binding|ribonuclease H activity|RNA binding|site-specific endodeoxyribonuclease activity, specific for altered base|transcription coactivator activity|transcription corepressor activity|uracil DNA N-glycosylase activity			breast(2)|endometrium(1)|large_intestine(4)|ovary(2)	9	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;1.09e-07)|all cancers(55;1.19e-06)	GBM - Glioblastoma multiforme(265;0.0224)|READ - Rectum adenocarcinoma(17;0.193)	Lucanthone(DB04967)	TGTTGTCCCACTCTCTGTTAC	0.488								Other BER factors					58	24					0	0	1	0	0	G	20925577	C	G	20925577	3	3	501	1	0	0	0	0	1	0	0	0	765	564	20	4	881	4	APEX1	14	20925577	Missense_Mutation	SNP	C	TCGA-VV-A829-01A-21D-A36O-08		20925577	86423963	26	37955											
DIS3L	115752	broad.mit.edu	37	15	66618626	66618626	+	Missense_Mutation	SNP	C	C	T			TCGA-VV-A829-01A-21D-A36O-08	TCGA-VV-A829-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2412e01f-41e2-48c7-849c-ecc2851b08d4	32471810-2274-4b01-b96f-37db7286333f	g.chr15:66618626C>T	ENST00000319194.5	+	12	2137	c.1876C>T	c.(1876-1878)Cac>Tac	p.H626Y	DIS3L_ENST00000319212.4_Missense_Mutation_p.H709Y|RP11-352G18.2_ENST00000565993.1_RNA	NM_133375.3	NP_588616.1	Q8TF46	DI3L1_HUMAN	DIS3 mitotic control homolog (S. cerevisiae)-like	709					rRNA catabolic process	cytoplasm|exosome (RNase complex)	exonuclease activity|protein binding|ribonuclease activity|RNA binding			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						GCTGCGCCAGCACCCTCCTCC	0.537													8	64					0	0	1	0	0	T	66618626	C	T	66618626	3	4	501	1	0	0	0	0	1	0	0	0	4564	710	25	2	2171	2	DIS3L	15	66618626	Missense_Mutation	SNP	C	TCGA-VV-A829-01A-21D-A36O-08		66618626	35912766	27	37956											
ANKS4B	257629	broad.mit.edu	37	16	21245084	21245084	+	Missense_Mutation	SNP	C	C	T			TCGA-VV-A829-01A-21D-A36O-08	TCGA-VV-A829-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2412e01f-41e2-48c7-849c-ecc2851b08d4	32471810-2274-4b01-b96f-37db7286333f	g.chr16:21245084C>T	ENST00000311620.5	+	1	99	c.26C>T	c.(25-27)gCt>gTt	p.A9V		NM_145865.2	NP_665872.2	Q8N8V4	ANS4B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 4B	9										NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|lung(11)|ovary(2)	20				GBM - Glioblastoma multiforme(48;0.0565)		CACCAAGCTGCTAGTGATAGT	0.488													49	81					0	0	1	0	0	T	21245084	C	T	21245084	3	4	501	1	0	0	0	0	1	0	0	0	685	797	28	2	28	2	ANKS4B	16	21245084	Missense_Mutation	SNP	C	TCGA-VV-A829-01A-21D-A36O-08		21245084	69109669	28	37957											
EIF4A1	1973	broad.mit.edu	37	17	7481180	7481180	+	Missense_Mutation	SNP	T	T	G			TCGA-VV-A829-01A-21D-A36O-08	TCGA-VV-A829-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2412e01f-41e2-48c7-849c-ecc2851b08d4	32471810-2274-4b01-b96f-37db7286333f	g.chr17:7481180T>G	ENST00000293831.8	+	9	958	c.942T>G	c.(940-942)atT>atG	p.I314M	SENP3-EIF4A1_ENST00000579777.1_RNA|EIF4A1_ENST00000577269.1_Missense_Mutation_p.I314M|EIF4A1_ENST00000581808.1_3'UTR|EIF4A1_ENST00000582746.1_Missense_Mutation_p.I314M	NM_001416.3	NP_001407.1	P60842	IF4A1_HUMAN	eukaryotic translation initiation factor 4A1	314	Helicase C-terminal.				nuclear-transcribed mRNA poly(A) tail shortening	cytosol|eukaryotic translation initiation factor 4F complex	ATP binding|ATP-dependent helicase activity|mRNA binding|protein binding|RNA cap binding|translation initiation factor activity			NS(1)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	22						GAGACGTGATTATGAGGGAGT	0.498													19	46					0	0	1	0	0	G	7481180	T	G	7481180	3	3	501	1	0	0	0	0	1	0	0	0	5052	1742	61	5	976	5	EIF4A1	17	7481180	Missense_Mutation	SNP	T	TCGA-VV-A829-01A-21D-A36O-08		7481180	73714030	29	37958											
MRPL45	84311	broad.mit.edu	37	17	36453192	36453192	+	Missense_Mutation	SNP	T	T	G	rs139299251	by1000genomes	TCGA-VV-A829-01A-21D-A36O-08	TCGA-VV-A829-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2412e01f-41e2-48c7-849c-ecc2851b08d4	32471810-2274-4b01-b96f-37db7286333f	g.chr17:36453192T>G	ENST00000312513.5	+	1	204	c.43T>G	c.(43-45)Ttt>Gtt	p.F15V		NM_032351.4	NP_115727.4	Q9BRJ2	RM45_HUMAN	mitochondrial ribosomal protein L45	15					intracellular protein transport|translation	mitochondrial inner membrane presequence translocase complex|ribosome	P-P-bond-hydrolysis-driven protein transmembrane transporter activity|structural constituent of ribosome			breast(3)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	13	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				TTTATCGAGGTTTTTGGGCTG	0.582													3	50					0	0	1	0	0	G	36453192	T	G	36453192	3	3	501	1	0	0	0	0	1	0	0	0	9858	1725	60	5		5	MRPL45	17	36453192	Missense_Mutation	SNP	T	TCGA-VV-A829-01A-21D-A36O-08	28972012	36453192	44742018	30	37959											
TLK2	11011	broad.mit.edu	37	17	60650604	60650604	+	Missense_Mutation	SNP	G	G	A			TCGA-VV-A829-01A-21D-A36O-08	TCGA-VV-A829-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2412e01f-41e2-48c7-849c-ecc2851b08d4	32471810-2274-4b01-b96f-37db7286333f	g.chr17:60650604G>A	ENST00000582809.1	+	13	1253	c.550G>A	c.(550-552)Gaa>Aaa	p.E184K	TLK2_ENST00000326270.9_Missense_Mutation_p.E333K|TLK2_ENST00000343388.7_Missense_Mutation_p.E301K|TLK2_ENST00000346027.5_Missense_Mutation_p.E333K|TLK2_ENST00000542523.1_Missense_Mutation_p.E301K			Q86UE8	TLK2_HUMAN	tousled-like kinase 2	333					cell cycle|chromatin modification|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(4)|large_intestine(6)|liver(2)|lung(10)|prostate(1)|stomach(1)|urinary_tract(1)	39						TTCACAGAGGGAAGAGATAGA	0.428													9	11					0	0	1	0	0	A	60650604	G	A	60650604	3	1	501	1	0	0	0	0	1	0	0	0	16004	1175	41	2	1039	2	TLK2	17	60650604	Missense_Mutation	SNP	G	TCGA-VV-A829-01A-21D-A36O-08	24197412	60650604	20544606	31	37960											
STK11	6794	broad.mit.edu	37	19	1219351	1219351	+	Frame_Shift_Del	DEL	G	G	-	rs137853081		TCGA-VV-A829-01A-21D-A36O-08	TCGA-VV-A829-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2412e01f-41e2-48c7-849c-ecc2851b08d4	32471810-2274-4b01-b96f-37db7286333f	g.chr19:1219351delG	ENST00000326873.7	+	3	1576	c.403delG	c.(403-405)ggcfs	p.G135fs	STK11_ENST00000585748.1_3'UTR	NM_000455.4	NP_000446.1	Q15831	STK11_HUMAN	serine/threonine kinase 11	135	Protein kinase.		G -> R (in melanoma; sporadic malignant; somatic mutation).		anoikis|cell cycle arrest|energy reserve metabolic process|insulin receptor signaling pathway|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.0?(20)|p.?(2)|p.G135R(1)		biliary_tract(1)|breast(3)|cervix(35)|gastrointestinal_tract_(site_indeterminate)(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|liver(1)|lung(219)|oesophagus(1)|ovary(4)|pancreas(6)|prostate(2)|skin(15)|small_intestine(1)|stomach(9)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	328		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|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)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18)		CTGCGTGTGTGGCATGCAGGA	0.682		14	"D, Mis, N, F, S"		"NSCLC, pancreatic"	"jejunal harmartoma, ovarian, testicular, pancreatic"			Peutz-Jeghers syndrome	TSP Lung(3;<1E-08)			2	4	---	---	---	---						-	1219351	G	-	1219351	7	5	501	1	0	1	0	1	0	0	0	0	15343	1348	47	0	413	0	STK11	19	1219351	Frame_Shift_Del	DEL	G	TCGA-VV-A829-01A-21D-A36O-08		1219351	57909632	32	37961											
ANKLE1	126549	broad.mit.edu	37	19	17396326	17396326	+	Missense_Mutation	SNP	G	G	A			TCGA-VV-A829-01A-21D-A36O-08	TCGA-VV-A829-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2412e01f-41e2-48c7-849c-ecc2851b08d4	32471810-2274-4b01-b96f-37db7286333f	g.chr19:17396326G>A	ENST00000394458.3	+	7	1739	c.1463G>A	c.(1462-1464)gGc>gAc	p.G488D	ANKLE1_ENST00000404085.1_Missense_Mutation_p.G484D|ANKLE1_ENST00000594072.1_Missense_Mutation_p.G451D|ANKLE1_ENST00000433424.2_3'UTR|ANKLE1_ENST00000598347.1_Missense_Mutation_p.G462D	NM_152363.4	NP_689576	Q8NAG6	ANKL1_HUMAN	ankyrin repeat and LEM domain containing 1	488						nuclear envelope				large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	7						TTCTACGTGGGCAAAGGGACG	0.607													4	100					0	0	1	0	0	A	17396326	G	A	17396326	3	1	501	1	0	0	0	0	1	0	0	0	628	1203	42	2	1489	2	ANKLE1	19	17396326	Missense_Mutation	SNP	G	TCGA-VV-A829-01A-21D-A36O-08	16176975	17396326	41732657	33	37962											
ANKLE1	126549	broad.mit.edu	37	19	17397249	17397249	+	Missense_Mutation	SNP	C	C	T			TCGA-VV-A829-01A-21D-A36O-08	TCGA-VV-A829-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2412e01f-41e2-48c7-849c-ecc2851b08d4	32471810-2274-4b01-b96f-37db7286333f	g.chr19:17397249C>T	ENST00000394458.3	+	9	2012	c.1736C>T	c.(1735-1737)cCa>cTa	p.P579L	ANKLE1_ENST00000404085.1_Missense_Mutation_p.P575L|ANKLE1_ENST00000594072.1_Missense_Mutation_p.P542L|ANKLE1_ENST00000433424.2_3'UTR|ANKLE1_ENST00000598347.1_Missense_Mutation_p.H507Y	NM_152363.4	NP_689576	Q8NAG6	ANKL1_HUMAN	ankyrin repeat and LEM domain containing 1	579						nuclear envelope				large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	7						GCAGGCTGGCCACCTGCTCGT	0.637													16	21					0	0	1	0	0	T	17397249	C	T	17397249	3	4	501	1	0	0	0	0	1	0	0	0	628	594	21	2	1770	2	ANKLE1	19	17397249	Missense_Mutation	SNP	C	TCGA-VV-A829-01A-21D-A36O-08	923	17397249	41731734	34	37963											
SPTBN4	57731	broad.mit.edu	37	19	41012265	41012265	+	Silent	SNP	C	C	T			TCGA-VV-A829-01A-21D-A36O-08	TCGA-VV-A829-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2412e01f-41e2-48c7-849c-ecc2851b08d4	32471810-2274-4b01-b96f-37db7286333f	g.chr19:41012265C>T	ENST00000352632.3	+	13	1874	c.1788C>T	c.(1786-1788)gcC>gcT	p.A596A	SPTBN4_ENST00000344104.3_Silent_p.A596A|SPTBN4_ENST00000595535.1_Silent_p.A596A|SPTBN4_ENST00000338932.3_Silent_p.A596A|SPTBN4_ENST00000598249.1_Silent_p.A596A			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	596					actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CTCTCAATGCCGCTGCCCTGC	0.632													15	8					0	0	1	0	0	T	41012265	C	T	41012265	2	4	501	1	0	0	0	0	0	0	0	1	15177	639	23	1		1	SPTBN4	19	41012265	Silent	SNP	C	TCGA-VV-A829-01A-21D-A36O-08	23615016	41012265	18116718	35	37964											
NCOA3	8202	broad.mit.edu	37	20	46279833	46279833	+	Silent	SNP	G	G	A			TCGA-VV-A829-01A-21D-A36O-08	TCGA-VV-A829-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2412e01f-41e2-48c7-849c-ecc2851b08d4	32471810-2274-4b01-b96f-37db7286333f	g.chr20:46279833G>A	ENST00000372004.3	+	20	3963	c.3747G>A	c.(3745-3747)caG>caA	p.Q1249Q	NCOA3_ENST00000341724.6_Silent_p.Q1179Q|NCOA3_ENST00000371998.3_Silent_p.Q1253Q|NCOA3_ENST00000371997.3_Silent_p.Q1244Q	NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2	NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1	Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	1253	Acetyltransferase.|Poly-Gln.		Missing.		androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding			breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						agcagcagcagcaacagcagc	0.547													3	41					0	0	1	0	0	A	46279833	G	A	46279833	2	1	501	1	0	0	0	0	0	0	0	1	10277	962	34	2		2	NCOA3	20	46279833	Silent	SNP	G	TCGA-VV-A829-01A-21D-A36O-08		46279833	16745687	36	37965											
KRTAP10-9	386676	broad.mit.edu	37	21	46047639	46047639	+	Missense_Mutation	SNP	T	T	C			TCGA-VV-A829-01A-21D-A36O-08	TCGA-VV-A829-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2412e01f-41e2-48c7-849c-ecc2851b08d4	32471810-2274-4b01-b96f-37db7286333f	g.chr21:46047639T>C	ENST00000397911.3	+	1	600	c.551T>C	c.(550-552)gTg>gCg	p.V184A	KRTAP10-9_ENST00000484861.1_Intron|TSPEAR_ENST00000323084.4_Intron	NM_198690.2	NP_941963.2	P60411	KR109_HUMAN	keratin associated protein 10-9	184	25 X 5 AA repeats of C-C-X(3).					keratin filament				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)	9						TCCTACTGTGTGCCTGTCTGC	0.597													143	215					0	0	1	0	0	C	46047639	T	C	46047639	3	2	501	1	0	0	0	0	1	0	0	0	8559	1696	59	3	553	3	KRTAP10-9	21	46047639	Missense_Mutation	SNP	T	TCGA-VV-A829-01A-21D-A36O-08		46047639	2082256	37	37966											
BCOR	54880	broad.mit.edu	37	X	39911568	39911568	+	Nonsense_Mutation	SNP	C	C	A			TCGA-VV-A829-01A-21D-A36O-08	TCGA-VV-A829-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2412e01f-41e2-48c7-849c-ecc2851b08d4	32471810-2274-4b01-b96f-37db7286333f	g.chrX:39911568C>A	ENST00000342274.4	-	15	5322	c.4960G>T	c.(4960-4962)Gaa>Taa	p.E1654*	BCOR_ENST00000378444.4_Nonsense_Mutation_p.E1688*|BCOR_ENST00000397354.3_Nonsense_Mutation_p.E1654*|BCOR_ENST00000378455.4_Nonsense_Mutation_p.E1636*|BCOR_ENST00000378463.1_Nonsense_Mutation_p.E531*	NM_001123383.1	NP_001116855.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	1688					heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						GTGACAATTTCCACGTTTGGA	0.438			"F, N, S, T"	RARA	"retinoblastoma, AML, APL(translocation)"		oculo-facio-cardio-dental genetic						23	4					1.1804e-14	1.1804e-14	1	1	0	A	39911568	C	A	39911568	4	1	501	1	0	0	0	0	0	1	0	0	1384	864	30	5	209	5	BCOR	23	39911568	Nonsense_Mutation	SNP	C	TCGA-VV-A829-01A-21D-A36O-08		39911568	115358992	38	37967											
WDR77	79084	broad.mit.edu	37	1	111985359	111985359	+	Missense_Mutation	SNP	A	A	G			TCGA-VV-A86M-01A-11D-A36O-08	TCGA-VV-A86M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5db1dc85-06ff-4cdd-acc9-d0b950b8f83e	d9c49142-2c48-4d18-adf2-08fe0fd0ebb4	g.chr1:111985359A>G	ENST00000235090.5	-	8	922	c.716T>C	c.(715-717)cTt>cCt	p.L239P	WDR77_ENST00000411751.2_Missense_Mutation_p.L175P|WDR77_ENST00000497278.1_5'UTR	NM_024102.2	NP_077007.1	Q9BQA1	MEP50_HUMAN	WD repeat domain 77	239					ncRNA metabolic process|spliceosomal snRNP assembly	cytosol|nucleus	ligand-dependent nuclear receptor transcription coactivator activity|protein binding			NS(2)|endometrium(2)|kidney(2)|large_intestine(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		all_cancers(81;0.000902)|all_epithelial(167;0.00056)|all_lung(203;0.00277)|Lung NSC(277;0.0043)		Lung(183;0.0238)|Colorectal(144;0.0296)|all cancers(265;0.0488)|Epithelial(280;0.0732)|COAD - Colon adenocarcinoma(174;0.114)|LUSC - Lung squamous cell carcinoma(189;0.135)		GGTGTCCACAAGGGAGACTGT	0.483													10	15					0	0	1	0	0	G	111985359	A	G	111985359	3	3	502	1	0	0	0	0	1	0	0	0	17387	72	3	3	324	3	WDR77	1	111985359	Missense_Mutation	SNP	A	TCGA-VV-A86M-01A-11D-A36O-08		111985359	137265262	1	37968											
HRNR	388697	broad.mit.edu	37	1	152190973	152190973	+	Silent	SNP	G	G	A			TCGA-VV-A86M-01A-11D-A36O-08	TCGA-VV-A86M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5db1dc85-06ff-4cdd-acc9-d0b950b8f83e	d9c49142-2c48-4d18-adf2-08fe0fd0ebb4	g.chr1:152190973G>A	ENST00000368801.2	-	3	3207	c.3132C>T	c.(3130-3132)tcC>tcT	p.S1044S	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	1044					keratinization		calcium ion binding|protein binding	p.S1044S(1)		autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AAGAGTGACCGGAGCCAGACT	0.582													4	184					0	0	1	0	0	A	152190973	G	A	152190973	2	1	502	1	0	0	0	0	0	0	0	1	7400	1103	39	1		1	HRNR	1	152190973	Silent	SNP	G	TCGA-VV-A86M-01A-11D-A36O-08	40205614	152190973	97059648	2	37969											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-VV-A86M-01A-11D-A36O-08	TCGA-VV-A86M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5db1dc85-06ff-4cdd-acc9-d0b950b8f83e	d9c49142-2c48-4d18-adf2-08fe0fd0ebb4	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								30	26					0	0	1	0	0	T	209113112	C	T	209113112	3	4	502	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-VV-A86M-01A-11D-A36O-08		209113112	34086261	3	37970											
PLA1A	51365	broad.mit.edu	37	3	119336927	119336927	+	Missense_Mutation	SNP	G	G	T			TCGA-VV-A86M-01A-11D-A36O-08	TCGA-VV-A86M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5db1dc85-06ff-4cdd-acc9-d0b950b8f83e	d9c49142-2c48-4d18-adf2-08fe0fd0ebb4	g.chr3:119336927G>T	ENST00000273371.4	+	7	888	c.816G>T	c.(814-816)gaG>gaT	p.E272D	PLA1A_ENST00000488919.1_Missense_Mutation_p.E99D|PLA1A_ENST00000495992.1_Missense_Mutation_p.E256D|PLA1A_ENST00000494440.1_Missense_Mutation_p.E256D	NM_015900.3	NP_056984.1	Q53H76	PLA1A_HUMAN	phospholipase A1 member A	272					lipid catabolic process|phosphatidylserine metabolic process	extracellular region	phospholipase A1 activity			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						GCGCCCTGGAGAATTCCTGTC	0.488													7	217					8.12818e-05	8.46686e-05	1	1	0	T	119336927	G	T	119336927	3	4	502	1	0	0	0	0	1	0	0	0	12036	933	33	4	842	4	PLA1A	3	119336927	Missense_Mutation	SNP	G	TCGA-VV-A86M-01A-11D-A36O-08		119336927	78685503	4	37971											
PLK2	10769	broad.mit.edu	37	5	57753314	57753314	+	Splice_Site	SNP	C	C	G			TCGA-VV-A86M-01A-11D-A36O-08	TCGA-VV-A86M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5db1dc85-06ff-4cdd-acc9-d0b950b8f83e	d9c49142-2c48-4d18-adf2-08fe0fd0ebb4	g.chr5:57753314C>G	ENST00000274289.3	-	6	1110		c.e6+1		PLK2_ENST00000502671.1_Splice_Site	NM_001252226.1|NM_006622.3	NP_001239155.1|NP_006613.2	Q9NYY3	PLK2_HUMAN	polo-like kinase 2						positive regulation of I-kappaB kinase/NF-kappaB cascade		ATP binding|protein binding|protein serine/threonine kinase activity|signal transducer activity			endometrium(7)|large_intestine(7)|lung(5)|ovary(3)|prostate(2)|skin(2)	26		all_cancers(5;1.76e-12)|all_epithelial(5;2.09e-13)|all_lung(5;6.64e-05)|Lung NSC(5;0.000127)|Prostate(74;0.055)|Breast(144;0.0602)|Ovarian(174;0.182)		OV - Ovarian serous cystadenocarcinoma(10;7.03e-37)		CATTTACTTACATTACACAGC	0.383													3	74					0	0	1	0	0	G	57753314	C	G	57753314	5	3	502	1	0	0	0	0	0	0	1	0	12144	492	17	5	1283	5	PLK2	5	57753314	Splice_Site	SNP	C	TCGA-VV-A86M-01A-11D-A36O-08		57753314	123161946	5	37972											
FAM71B	153745	broad.mit.edu	37	5	156592666	156592666	+	Missense_Mutation	SNP	C	C	T			TCGA-VV-A86M-01A-11D-A36O-08	TCGA-VV-A86M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5db1dc85-06ff-4cdd-acc9-d0b950b8f83e	d9c49142-2c48-4d18-adf2-08fe0fd0ebb4	g.chr5:156592666C>T	ENST00000302938.4	-	1	609	c.514G>A	c.(514-516)Gtc>Atc	p.V172I		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	172						nucleus		p.V172I(1)		NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			AGGAGATAGACAAGTTTTTCC	0.507													14	156					0	0	1	0	0	T	156592666	C	T	156592666	3	4	502	1	0	0	0	0	1	0	0	0	5643	478	17	2	1311	2	FAM71B	5	156592666	Missense_Mutation	SNP	C	TCGA-VV-A86M-01A-11D-A36O-08	98839352	156592666	24322594	6	37973											
ZNF165	7718	broad.mit.edu	37	6	28056763	28056763	+	Missense_Mutation	SNP	T	T	C			TCGA-VV-A86M-01A-11D-A36O-08	TCGA-VV-A86M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5db1dc85-06ff-4cdd-acc9-d0b950b8f83e	d9c49142-2c48-4d18-adf2-08fe0fd0ebb4	g.chr6:28056763T>C	ENST00000377325.1	+	4	1529	c.973T>C	c.(973-975)Tct>Cct	p.S325P		NM_003447.3	NP_003438.1	P49910	ZN165_HUMAN	zinc finger protein 165	325					viral reproduction	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						ATATGGAAAATCTTTCAAGAG	0.363													11	25					0	0	1	0	0	C	28056763	T	C	28056763	3	2	502	1	0	0	0	0	1	0	0	0	17798	1435	50	3	983	3	ZNF165	6	28056763	Missense_Mutation	SNP	T	TCGA-VV-A86M-01A-11D-A36O-08		28056763	143058304	7	37974											
SLC39A7	7922	broad.mit.edu	37	6	33169244	33169244	+	Silent	SNP	A	A	G			TCGA-VV-A86M-01A-11D-A36O-08	TCGA-VV-A86M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5db1dc85-06ff-4cdd-acc9-d0b950b8f83e	d9c49142-2c48-4d18-adf2-08fe0fd0ebb4	g.chr6:33169244A>G	ENST00000374677.3	+	1	595	c.222A>G	c.(220-222)ggA>ggG	p.G74G	SLC39A7_ENST00000374675.3_Silent_p.G74G	NM_006979.2	NP_008910.2	Q92504	S39A7_HUMAN	solute carrier family 39 (zinc transporter), member 7	74	His-rich.					endoplasmic reticulum membrane|integral to membrane|membrane fraction	protein binding|zinc ion transmembrane transporter activity			NS(1)|breast(3)|endometrium(2)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						TCTGGCATGGACATACCCACG	0.547													28	35					0	0	1	0	0	G	33169244	A	G	33169244	2	3	502	1	0	0	0	0	0	0	0	1	14678	262	10	3		3	SLC39A7	6	33169244	Silent	SNP	A	TCGA-VV-A86M-01A-11D-A36O-08	5112481	33169244	137945823	8	37975											
SEC63	11231	broad.mit.edu	37	6	108202455	108202455	+	Splice_Site	SNP	C	C	T			TCGA-VV-A86M-01A-11D-A36O-08	TCGA-VV-A86M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5db1dc85-06ff-4cdd-acc9-d0b950b8f83e	d9c49142-2c48-4d18-adf2-08fe0fd0ebb4	g.chr6:108202455C>T	ENST00000369002.4	-	18	2013		c.e18-1			NM_007214.4	NP_009145.1	Q9UGP8	SEC63_HUMAN	SEC63 homolog (S. cerevisiae)						protein folding|protein targeting to membrane	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|receptor activity|unfolded protein binding			endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(87;5.35e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0294)		BRCA - Breast invasive adenocarcinoma(108;0.0079)|Epithelial(106;0.0356)|all cancers(137;0.0525)|OV - Ovarian serous cystadenocarcinoma(136;0.054)		CTTGCCACTCCTAGTAAACaa	0.313													29	34					0	0	1	0	0	T	108202455	C	T	108202455	5	4	502	1	0	0	0	0	0	0	1	0	14059	695	24	2	465	2	SEC63	6	108202455	Splice_Site	SNP	C	TCGA-VV-A86M-01A-11D-A36O-08	75033211	108202455	62912612	9	37976											
DNAJA1	3301	broad.mit.edu	37	9	33029962	33029962	+	Missense_Mutation	SNP	G	G	C			TCGA-VV-A86M-01A-11D-A36O-08	TCGA-VV-A86M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5db1dc85-06ff-4cdd-acc9-d0b950b8f83e	d9c49142-2c48-4d18-adf2-08fe0fd0ebb4	g.chr9:33029962G>C	ENST00000330899.4	+	4	573	c.390G>C	c.(388-390)aaG>aaC	p.K130N	DNAJA1_ENST00000495015.1_Intron|DNAJA1_ENST00000544625.1_5'UTR	NM_001539.2	NP_001530.1	P31689	DNJA1_HUMAN	DnaJ (Hsp40) homolog, subfamily A, member 1	130					protein folding|response to heat|response to unfolded protein	membrane	ATP binding|heat shock protein binding|low-density lipoprotein particle receptor binding|metal ion binding|unfolded protein binding			large_intestine(2)|ovary(1)|skin(3)	6			LUSC - Lung squamous cell carcinoma(29;0.0227)	GBM - Glioblastoma multiforme(74;0.102)		CTCTGCAAAAGAATGTGATTT	0.328													31	19					0	0	1	0	0	C	33029962	G	C	33029962	3	2	502	1	0	0	0	0	1	0	0	0	4638	933	33	4	400	4	DNAJA1	9	33029962	Missense_Mutation	SNP	G	TCGA-VV-A86M-01A-11D-A36O-08		33029962	108183469	10	37977											
ADD3	120	broad.mit.edu	37	10	111892082	111892082	+	Silent	SNP	C	C	G			TCGA-VV-A86M-01A-11D-A36O-08	TCGA-VV-A86M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5db1dc85-06ff-4cdd-acc9-d0b950b8f83e	d9c49142-2c48-4d18-adf2-08fe0fd0ebb4	g.chr10:111892082C>G	ENST00000356080.4	+	14	2119	c.1752C>G	c.(1750-1752)ctC>ctG	p.L584L	ADD3_ENST00000360162.3_Intron|ADD3_ENST00000277900.8_Intron	NM_016824.3	NP_058432.1	Q9UEY8	ADDG_HUMAN	adducin 3 (gamma)	584						cytoskeleton	actin binding|calmodulin binding|metal ion binding|structural constituent of cytoskeleton			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	29		Breast(234;0.052)|Lung NSC(174;0.223)		Epithelial(162;4.15e-05)|all cancers(201;0.000587)|BRCA - Breast invasive adenocarcinoma(275;0.0742)		AGGAATTACTCTCAGATGACG	0.378													36	39					0	0	1	0	0	G	111892082	C	G	111892082	2	3	502	1	0	0	0	0	0	0	0	1	305	900	32	4		4	ADD3	10	111892082	Silent	SNP	C	TCGA-VV-A86M-01A-11D-A36O-08		111892082	23642665	11	37978											
PWWP2B	170394	broad.mit.edu	37	10	134218293	134218293	+	Missense_Mutation	SNP	A	A	C			TCGA-VV-A86M-01A-11D-A36O-08	TCGA-VV-A86M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5db1dc85-06ff-4cdd-acc9-d0b950b8f83e	d9c49142-2c48-4d18-adf2-08fe0fd0ebb4	g.chr10:134218293A>C	ENST00000305233.5	+	2	348	c.289A>C	c.(289-291)Acc>Ccc	p.T97P	PWWP2B_ENST00000368609.4_Missense_Mutation_p.T97P	NM_138499.3	NP_612508.3	Q6NUJ5	PWP2B_HUMAN	PWWP domain containing 2B	97	Pro-rich.									central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|urinary_tract(1)	9		all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224)		OV - Ovarian serous cystadenocarcinoma(35;7.49e-05)|Epithelial(32;0.00016)|all cancers(32;0.000186)		CCCCGAGACCACCCGCCCCGA	0.756													5	3					0	0	1	0	0	C	134218293	A	C	134218293	3	2	502	1	0	0	0	0	1	0	0	0	12898	159	6	5	295	5	PWWP2B	10	134218293	Missense_Mutation	SNP	A	TCGA-VV-A86M-01A-11D-A36O-08	22326211	134218293	1316454	12	37979											
NBEA	26960	broad.mit.edu	37	13	35685017	35685017	+	Missense_Mutation	SNP	G	G	T			TCGA-VV-A86M-01A-11D-A36O-08	TCGA-VV-A86M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5db1dc85-06ff-4cdd-acc9-d0b950b8f83e	d9c49142-2c48-4d18-adf2-08fe0fd0ebb4	g.chr13:35685017G>T	ENST00000540320.1	+	13	2438	c.1904G>T	c.(1903-1905)cGc>cTc	p.R635L	NBEA_ENST00000379939.2_Missense_Mutation_p.R635L|NBEA_ENST00000310336.4_Missense_Mutation_p.R635L|NBEA_ENST00000400445.3_Missense_Mutation_p.R635L			Q8NFP9	NBEA_HUMAN	neurobeachin	635						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		ACCACCATACGCAGAGTAGGA	0.363													3	68					0.115264	0.115264	1	1	0	T	35685017	G	T	35685017	3	4	502	1	0	0	0	0	1	0	0	0	10235	1087	38	5	1954	5	NBEA	13	35685017	Missense_Mutation	SNP	G	TCGA-VV-A86M-01A-11D-A36O-08		35685017	79484861	13	37980											
TP53	7157	broad.mit.edu	37	17	7578443	7578443	+	Missense_Mutation	SNP	A	A	T			TCGA-VV-A86M-01A-11D-A36O-08	TCGA-VV-A86M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5db1dc85-06ff-4cdd-acc9-d0b950b8f83e	d9c49142-2c48-4d18-adf2-08fe0fd0ebb4	g.chr17:7578443A>T	ENST00000420246.2	-	5	619	c.487T>A	c.(487-489)Tac>Aac	p.Y163N	TP53_ENST00000269305.4_Missense_Mutation_p.Y163N|TP53_ENST00000445888.2_Missense_Mutation_p.Y163N|TP53_ENST00000359597.4_Missense_Mutation_p.Y163N|TP53_ENST00000413465.2_Missense_Mutation_p.Y163N|TP53_ENST00000455263.2_Missense_Mutation_p.Y163N	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	163	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.Y163N(20)|p.Y163H(17)|p.0?(8)|p.Y163D(5)|p.I162_Y163>N(3)|p.Y163fs*7(2)|p.V157_C176del20(1)|p.Y163fs*1(1)|p.Y163_Q165delYKQ(1)|p.P151_V173del23(1)|p.S149fs*72(1)|p.I30_Y31>N(1)|p.I162_Y163delIY(1)|p.I69_Y70>N(1)|p.Y70N(1)|p.A161fs*7(1)|p.Y31N(1)|p.Y163fs*14(1)|p.A159_Q167delAMAIYKQSQ(1)|p.Y163fs*18(1)|p.Y70D(1)|p.Y31D(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)		GACTGCTTGTAGATGGCCATG	0.622		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)			18	27					0	0	1	0	0	T	7578443	A	T	7578443	3	4	502	1	0	0	0	0	1	0	0	0	16442	420	15	5	811	5	TP53	17	7578443	Missense_Mutation	SNP	A	TCGA-VV-A86M-01A-11D-A36O-08		7578443	73616767	14	37981											
MYO15A	51168	broad.mit.edu	37	17	18023771	18023771	+	Missense_Mutation	SNP	C	C	T			TCGA-VV-A86M-01A-11D-A36O-08	TCGA-VV-A86M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5db1dc85-06ff-4cdd-acc9-d0b950b8f83e	d9c49142-2c48-4d18-adf2-08fe0fd0ebb4	g.chr17:18023771C>T	ENST00000205890.5	+	2	1995	c.1657C>T	c.(1657-1659)Cgg>Tgg	p.R553W		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	553	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					CGGCGCCCACCGGGGCCTGGG	0.711													5	3					0	0	1	0	0	T	18023771	C	T	18023771	3	4	502	1	0	0	0	0	1	0	0	0	10111	643	23	1	1659	1	MYO15A	17	18023771	Missense_Mutation	SNP	C	TCGA-VV-A86M-01A-11D-A36O-08	10445328	18023771	63171439	15	37982											
PHB	5245	broad.mit.edu	37	17	47486742	47486742	+	Frame_Shift_Del	DEL	T	T	-			TCGA-VV-A86M-01A-11D-A36O-08	TCGA-VV-A86M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5db1dc85-06ff-4cdd-acc9-d0b950b8f83e	d9c49142-2c48-4d18-adf2-08fe0fd0ebb4	g.chr17:47486742delT	ENST00000300408.3	-	4	416	c.344delA	c.(343-345)gatfs	p.D115fs	PHB_ENST00000508009.1_5'UTR|PHB_ENST00000511832.1_Frame_Shift_Del_p.D115fs|RP11-81K2.1_ENST00000576461.1_Intron	NM_001281496.1|NM_001281715.1|NM_002634.2	NP_001268425.1|NP_001268644.1|NP_002625.1	P35232	PHB_HUMAN	prohibitin	115					cellular response to interleukin-6|DNA replication|glucocorticoid receptor signaling pathway|histone deacetylation|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of transcription by competitive promoter binding|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|progesterone receptor signaling pathway|regulation of apoptosis	integral to plasma membrane|mitochondrial inner membrane|nucleoplasm	histone deacetylase binding|transcription regulatory region DNA binding			endometrium(4)|large_intestine(2)|lung(4)	10	all_cancers(4;2.62e-14)|Breast(4;4.21e-29)|all_epithelial(4;6.9e-18)		Epithelial(5;8.1e-06)|all cancers(6;7.71e-05)			CACACGCTCATCATAGTCCTC	0.567													12	21	---	---	---	---						-	47486742	T	-	47486742	7	5	502	1	0	1	0	1	0	0	0	0	11862	1435	50	0	490	0	PHB	17	47486742	Frame_Shift_Del	DEL	T	TCGA-VV-A86M-01A-11D-A36O-08	29462971	47486742	33708468	16	37983											
SSTR3	6753	broad.mit.edu	37	22	37603076	37603076	+	Missense_Mutation	SNP	G	G	A			TCGA-VV-A86M-01A-11D-A36O-08	TCGA-VV-A86M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5db1dc85-06ff-4cdd-acc9-d0b950b8f83e	d9c49142-2c48-4d18-adf2-08fe0fd0ebb4	g.chr22:37603076G>A	ENST00000328544.3	-	2	1300	c.767C>T	c.(766-768)aCg>aTg	p.T256M	SSTR3_ENST00000402501.1_Missense_Mutation_p.T256M	NM_001051.3	NP_001042.1	P32745	SSR3_HUMAN	somatostatin receptor 3	256					G-protein signaling, coupled to cyclic nucleotide second messenger|induction of apoptosis by hormones|negative regulation of cell proliferation	integral to plasma membrane|nonmotile primary cilium	somatostatin receptor activity			NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)	14						CACCATGCGCGTGACCCTGCG	0.677													4	49					0	0	1	0	0	A	37603076	G	A	37603076	3	1	502	1	0	0	0	0	1	0	0	0	15255	1145	40	1	493	1	SSTR3	22	37603076	Missense_Mutation	SNP	G	TCGA-VV-A86M-01A-11D-A36O-08		37603076	13701490	17	37984											
KDELR3	11015	broad.mit.edu	37	22	38877361	38877361	+	Missense_Mutation	SNP	T	T	C			TCGA-VV-A86M-01A-11D-A36O-08	TCGA-VV-A86M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5db1dc85-06ff-4cdd-acc9-d0b950b8f83e	d9c49142-2c48-4d18-adf2-08fe0fd0ebb4	g.chr22:38877361T>C	ENST00000216014.4	+	4	668	c.496T>C	c.(496-498)Tgg>Cgg	p.W166R	KDELR3_ENST00000471268.1_3'UTR|KDELR3_ENST00000409006.3_Missense_Mutation_p.W166R	NM_006855.2	NP_006846.1	O43731	ERD23_HUMAN	KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 3	166					protein retention in ER lumen|protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|integral to membrane	ER retention sequence binding|receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)	13	Melanoma(58;0.0286)					CCTGGCTAACTGGATCAGGCG	0.478													4	63					0	0	1	0	0	C	38877361	T	C	38877361	3	2	502	1	0	0	0	0	1	0	0	0	8165	1580	55	3	510	3	KDELR3	22	38877361	Missense_Mutation	SNP	T	TCGA-VV-A86M-01A-11D-A36O-08	1274285	38877361	12427205	18	37985											
ATRX	546	broad.mit.edu	37	X	76940454	76940454	+	Silent	SNP	T	T	G			TCGA-VV-A86M-01A-11D-A36O-08	TCGA-VV-A86M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5db1dc85-06ff-4cdd-acc9-d0b950b8f83e	d9c49142-2c48-4d18-adf2-08fe0fd0ebb4	g.chrX:76940454T>G	ENST00000373344.5	-	8	853	c.639A>C	c.(637-639)tcA>tcC	p.S213S	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Silent_p.S175S	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	213	ADD.				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)	CCATTCCATCTGAGTCACGGC	0.308			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						44	46					0	0	1	0	0	G	76940454	T	G	76940454	2	3	502	1	0	0	0	0	0	0	0	1	1206	1567	55	5		5	ATRX	23	76940454	Silent	SNP	T	TCGA-VV-A86M-01A-11D-A36O-08		76940454	78330106	19	37986											
MUM1L1	139221	broad.mit.edu	37	X	105450654	105450654	+	Missense_Mutation	SNP	T	T	A			TCGA-VV-A86M-01A-11D-A36O-08	TCGA-VV-A86M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5db1dc85-06ff-4cdd-acc9-d0b950b8f83e	d9c49142-2c48-4d18-adf2-08fe0fd0ebb4	g.chrX:105450654T>A	ENST00000337685.2	+	5	2014	c.1229T>A	c.(1228-1230)aTa>aAa	p.I410K	MUM1L1_ENST00000357175.2_Missense_Mutation_p.I410K|MUM1L1_ENST00000372552.1_Missense_Mutation_p.I410K	NM_152423.4	NP_689636.3	Q5H9M0	MUML1_HUMAN	melanoma associated antigen (mutated) 1-like 1	410	PWWP.									autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						CCAGCAGTGATAAAAAGTATC	0.348													13	13					0	0	1	0	0	A	105450654	T	A	105450654	3	1	502	1	0	0	0	0	1	0	0	0	10034	1406	49	4	1231	4	MUM1L1	23	105450654	Missense_Mutation	SNP	T	TCGA-VV-A86M-01A-11D-A36O-08	28510200	105450654	49819906	20	37987											
MTOR	2475	broad.mit.edu	37	1	11182158	11182158	+	Missense_Mutation	SNP	A	A	C			TCGA-VW-A7QS-01A-12D-A33T-08	TCGA-VW-A7QS-10A-02D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	956e5346-11d4-4d05-8ba1-404e24662ec2	3f4313bf-c69c-4fc2-9951-7886601a95db	g.chr1:11182158A>C	ENST00000361445.4	-	48	6764	c.6688T>G	c.(6688-6690)Tta>Gta	p.L2230V	MTOR_ENST00000376838.1_Missense_Mutation_p.L435V	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	2230	PI3K/PI4K.				cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						TTGGTCGATAAAGGGATGACA	0.532													33	8					0	0	1	0	0	C	11182158	A	C	11182158	3	2	503	1	0	0	0	0	1	0	0	0	10002	11	1	5	1005	5	MTOR	1	11182158	Missense_Mutation	SNP	A	TCGA-VW-A7QS-01A-12D-A33T-08		11182158	238068463	1	37988											
SEC22B	9554	broad.mit.edu	37	1	145109975	145109976	+	RNA	INS	-	-	C	rs67257307		TCGA-VW-A7QS-01A-12D-A33T-08	TCGA-VW-A7QS-10A-02D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	956e5346-11d4-4d05-8ba1-404e24662ec2	3f4313bf-c69c-4fc2-9951-7886601a95db	g.chr1:145109975_145109976insC	ENST00000453618.1	+	0	673							O75396	SC22B_HUMAN	SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)						ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome	protein binding										CAGGAACTTTGCTAAAGATCTA	0.386													3	5	---	---	---	---						C	145109976	-	C	145109975	6	5	503	0	1	1	1	0	0	0	0	0	14043	1334	46	0		0	SEC22B	1	145109975	RNA	INS	-	TCGA-VW-A7QS-01A-12D-A33T-08	133927817	145109975	104140646	2	37989											
OR10X1	128367	broad.mit.edu	37	1	158549195	158549195	+	Silent	SNP	G	G	A			TCGA-VW-A7QS-01A-12D-A33T-08	TCGA-VW-A7QS-10A-02D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	956e5346-11d4-4d05-8ba1-404e24662ec2	3f4313bf-c69c-4fc2-9951-7886601a95db	g.chr1:158549195G>A	ENST00000368150.1	-	1	494	c.495C>T	c.(493-495)tgC>tgT	p.C165C		NM_001004477.1	NP_001004477.1	Q8NGY0	O10X1_HUMAN	olfactory receptor, family 10, subfamily X, member 1 (gene/pseudogene)	165					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1)	37	all_hematologic(112;0.0378)					AGCCTGCAGTGCAAGCAGAGG	0.468													9	63					0	0	1	0	0	A	158549195	G	A	158549195	2	1	503	1	0	0	0	0	0	0	0	1	10970	1311	46	2		2	OR10X1	1	158549195	Silent	SNP	G	TCGA-VW-A7QS-01A-12D-A33T-08	13439220	158549195	90701426	3	37990											
KCNT2	343450	broad.mit.edu	37	1	196309662	196309662	+	Missense_Mutation	SNP	T	T	C			TCGA-VW-A7QS-01A-12D-A33T-08	TCGA-VW-A7QS-10A-02D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	956e5346-11d4-4d05-8ba1-404e24662ec2	3f4313bf-c69c-4fc2-9951-7886601a95db	g.chr1:196309662T>C	ENST00000367433.5	-	16	1693	c.1592A>G	c.(1591-1593)aAt>aGt	p.N531S	KCNT2_ENST00000451324.2_Missense_Mutation_p.N142S|KCNT2_ENST00000609185.1_Missense_Mutation_p.N481S|KCNT2_ENST00000294725.9_Missense_Mutation_p.N531S|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000367431.4_Missense_Mutation_p.N481S	NM_198503.2	NP_940905.2	Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	531	RCK N-terminal.					voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						AATGTTTTTATTATCCTCCCT	0.303													23	138					0	0	1	0	0	C	196309662	T	C	196309662	3	2	503	1	0	0	0	0	1	0	0	0	8136	1493	52	3	1867	3	KCNT2	1	196309662	Missense_Mutation	SNP	T	TCGA-VW-A7QS-01A-12D-A33T-08	37760467	196309662	52940959	4	37991											
TLR5	7100	broad.mit.edu	37	1	223285750	223285750	+	Silent	SNP	C	C	T			TCGA-VW-A7QS-01A-12D-A33T-08	TCGA-VW-A7QS-10A-02D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	956e5346-11d4-4d05-8ba1-404e24662ec2	3f4313bf-c69c-4fc2-9951-7886601a95db	g.chr1:223285750C>T	ENST00000540964.1	-	4	1085	c.624G>A	c.(622-624)ttG>ttA	p.L208L	TLR5_ENST00000342210.6_Silent_p.L208L			O60602	TLR5_HUMAN	toll-like receptor 5	208					cellular response to mechanical stimulus|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway	integral to membrane|plasma membrane	interleukin-1 receptor binding|transmembrane receptor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(131;0.0851)		CTCTGCTATACAAGCTATTAG	0.443													66	93					0	0	1	0	0	T	223285750	C	T	223285750	2	4	503	1	0	0	0	0	0	0	0	1	16014	477	17	2		2	TLR5	1	223285750	Silent	SNP	C	TCGA-VW-A7QS-01A-12D-A33T-08	26976088	223285750	25964871	5	37992											
B3GALNT2	148789	broad.mit.edu	37	1	235617570	235617570	+	Silent	SNP	C	C	T			TCGA-VW-A7QS-01A-12D-A33T-08	TCGA-VW-A7QS-10A-02D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	956e5346-11d4-4d05-8ba1-404e24662ec2	3f4313bf-c69c-4fc2-9951-7886601a95db	g.chr1:235617570C>T	ENST00000366600.3	-	10	1437	c.1209G>A	c.(1207-1209)ccG>ccA	p.P403P		NM_152490.2	NP_689703.1	Q8NCR0	B3GL2_HUMAN	beta-1,3-N-acetylgalactosaminyltransferase 2	403					protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity			NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	18	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.0539)|Prostate(94;0.0353)	OV - Ovarian serous cystadenocarcinoma(106;0.000117)			AAGCGGGGCTCGGGTACTCCA	0.507													54	124					0	0	1	0	0	T	235617570	C	T	235617570	2	4	503	1	0	0	0	0	0	0	0	1	1244	871	31	1		1	B3GALNT2	1	235617570	Silent	SNP	C	TCGA-VW-A7QS-01A-12D-A33T-08	12331820	235617570	13633051	6	37993											
FBXO11	80204	broad.mit.edu	37	2	48040489	48040489	+	Missense_Mutation	SNP	A	A	T			TCGA-VW-A7QS-01A-12D-A33T-08	TCGA-VW-A7QS-10A-02D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	956e5346-11d4-4d05-8ba1-404e24662ec2	3f4313bf-c69c-4fc2-9951-7886601a95db	g.chr2:48040489A>T	ENST00000403359.3	-	18	2183	c.2111T>A	c.(2110-2112)aTa>aAa	p.I704K	FBXO11_ENST00000434523.2_Missense_Mutation_p.I128K|FBXO11_ENST00000402508.1_Missense_Mutation_p.I620K|FBXO11_ENST00000316377.4_Missense_Mutation_p.I620K	NM_001190274.1	NP_001177203.1	Q86XK2	FBX11_HUMAN	F-box protein 11	704					ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|ubiquitin ligase complex	protein binding|protein-arginine N-methyltransferase activity|ubiquitin-protein ligase activity|zinc ion binding	p.0?(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	26		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			ATTGTCAAATATTTCATTGTC	0.294			"Mis, F, D"		DLBCL								73	140					0	0	1	0	0	T	48040489	A	T	48040489	3	4	503	1	0	0	0	0	1	0	0	0	5760	449	16	4	782	4	FBXO11	2	48040489	Missense_Mutation	SNP	A	TCGA-VW-A7QS-01A-12D-A33T-08		48040489	195158884	7	37994											
SLC9A2	6549	broad.mit.edu	37	2	103317573	103317573	+	Missense_Mutation	SNP	G	G	A			TCGA-VW-A7QS-01A-12D-A33T-08	TCGA-VW-A7QS-10A-02D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	956e5346-11d4-4d05-8ba1-404e24662ec2	3f4313bf-c69c-4fc2-9951-7886601a95db	g.chr2:103317573G>A	ENST00000233969.2	+	8	1773	c.1631G>A	c.(1630-1632)cGg>cAg	p.R544Q	SLC9A2_ENST00000469286.1_3'UTR	NM_003048.3	NP_003039.2	Q9UBY0	SL9A2_HUMAN	solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2	544						integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						CTTTTGATTCGGGAAAACCAA	0.318													98	127					0	0	1	0	0	A	103317573	G	A	103317573	3	1	503	1	0	0	0	0	1	0	0	0	14767	1116	39	1	1661	1	SLC9A2	2	103317573	Missense_Mutation	SNP	G	TCGA-VW-A7QS-01A-12D-A33T-08	55277084	103317573	139881800	8	37995											
MYO7B	4648	broad.mit.edu	37	2	128350379	128350379	+	Missense_Mutation	SNP	G	G	A			TCGA-VW-A7QS-01A-12D-A33T-08	TCGA-VW-A7QS-10A-02D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	956e5346-11d4-4d05-8ba1-404e24662ec2	3f4313bf-c69c-4fc2-9951-7886601a95db	g.chr2:128350379G>A	ENST00000389524.4	+	17	2056	c.2003G>A	c.(2002-2004)cGg>cAg	p.R668Q	MYO7B_ENST00000428314.1_Missense_Mutation_p.R668Q|MYO7B_ENST00000409816.2_Missense_Mutation_p.R668Q			Q6PIF6	MYO7B_HUMAN	myosin VIIB	668	Myosin head-like.					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		CTGTTCGACCGGGAGCTGTGC	0.687													3	30					0	0	1	0	0	A	128350379	G	A	128350379	3	1	503	1	0	0	0	0	1	0	0	0	10131	1116	39	1	2065	1	MYO7B	2	128350379	Missense_Mutation	SNP	G	TCGA-VW-A7QS-01A-12D-A33T-08	25032806	128350379	114848994	9	37996											
NEB	4703	broad.mit.edu	37	2	152425801	152425801	+	Missense_Mutation	SNP	G	G	A			TCGA-VW-A7QS-01A-12D-A33T-08	TCGA-VW-A7QS-10A-02D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	956e5346-11d4-4d05-8ba1-404e24662ec2	3f4313bf-c69c-4fc2-9951-7886601a95db	g.chr2:152425801G>A	ENST00000427231.2	-	110	17718	c.17516C>T	c.(17515-17517)gCc>gTc	p.A5839V	NEB_ENST00000172853.10_Missense_Mutation_p.A4138V|NEB_ENST00000603639.1_Missense_Mutation_p.A5839V|NEB_ENST00000409198.1_Missense_Mutation_p.A4138V|NEB_ENST00000604864.1_Missense_Mutation_p.A5839V|NEB_ENST00000397345.3_Missense_Mutation_p.A5839V	NM_001164507.1|NM_001271208.1	NP_001157979|NP_001258137.1	P20929	NEBU_HUMAN	nebulin	5858					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GATGTCCGCGGCATGTTTGGC	0.433													44	53					0	0	1	0	0	A	152425801	G	A	152425801	3	1	503	1	0	0	0	0	1	0	0	0	10349	1203	42	2	8462	2	NEB	2	152425801	Missense_Mutation	SNP	G	TCGA-VW-A7QS-01A-12D-A33T-08	24075422	152425801	90773572	10	37997											
GALNT3	2591	broad.mit.edu	37	2	166615936	166615936	+	Missense_Mutation	SNP	C	C	T			TCGA-VW-A7QS-01A-12D-A33T-08	TCGA-VW-A7QS-10A-02D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	956e5346-11d4-4d05-8ba1-404e24662ec2	3f4313bf-c69c-4fc2-9951-7886601a95db	g.chr2:166615936C>T	ENST00000392701.3	-	5	1758	c.983G>A	c.(982-984)cGt>cAt	p.R328H	GALNT3_ENST00000409882.1_Missense_Mutation_p.R66H	NM_004482.3	NP_004473.2	Q14435	GALT3_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3 (GalNAc-T3)	328					protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	Golgi cisterna membrane|integral to membrane|membrane fraction|nucleus|perinuclear region of cytoplasm	calcium ion binding|manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(1)	20						AAAATTTCCACGGTTATGGTT	0.413													46	59					0	0	1	0	0	T	166615936	C	T	166615936	3	4	503	1	0	0	0	0	1	0	0	0	6254	536	19	1	946	1	GALNT3	2	166615936	Missense_Mutation	SNP	C	TCGA-VW-A7QS-01A-12D-A33T-08	14190135	166615936	76583437	11	37998											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-VW-A7QS-01A-12D-A33T-08	TCGA-VW-A7QS-10A-02D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	956e5346-11d4-4d05-8ba1-404e24662ec2	3f4313bf-c69c-4fc2-9951-7886601a95db	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								63	101					0	0	1	0	0	T	209113112	C	T	209113112	3	4	503	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-VW-A7QS-01A-12D-A33T-08	42497176	209113112	34086261	12	37999											
SCN11A	11280	broad.mit.edu	37	3	38888491	38888491	+	Silent	SNP	G	G	A			TCGA-VW-A7QS-01A-12D-A33T-08	TCGA-VW-A7QS-10A-02D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	956e5346-11d4-4d05-8ba1-404e24662ec2	3f4313bf-c69c-4fc2-9951-7886601a95db	g.chr3:38888491G>A	ENST00000302328.3	-	26	5268	c.5070C>T	c.(5068-5070)acC>acT	p.T1690T	SCN11A_ENST00000456224.3_Silent_p.T1652T|SCN11A_ENST00000450244.1_Silent_p.T1690T	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	1690					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	GTACCCTAGCGGTGAAGGCGA	0.453													140	142					0	0	1	0	0	A	38888491	G	A	38888491	2	1	503	1	0	0	0	0	0	0	0	1	13967	1103	39	1		1	SCN11A	3	38888491	Silent	SNP	G	TCGA-VW-A7QS-01A-12D-A33T-08		38888491	159133939	13	38000											
PARP3	10039	broad.mit.edu	37	3	51979052	51979052	+	Nonsense_Mutation	SNP	C	C	T			TCGA-VW-A7QS-01A-12D-A33T-08	TCGA-VW-A7QS-10A-02D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	956e5346-11d4-4d05-8ba1-404e24662ec2	3f4313bf-c69c-4fc2-9951-7886601a95db	g.chr3:51979052C>T	ENST00000417220.2	+	7	1161	c.673C>T	c.(673-675)Cag>Tag	p.Q225*	PARP3_ENST00000398755.3_Nonsense_Mutation_p.Q232*|PARP3_ENST00000431474.1_Nonsense_Mutation_p.Q225*			Q9Y6F1	PARP3_HUMAN	poly (ADP-ribose) polymerase family, member 3	225	PARP alpha-helical.				DNA repair|protein ADP-ribosylation	centriole|nucleus	NAD+ ADP-ribosyltransferase activity|protein binding			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		GAGCAAGCAACAGATTGCACG	0.627													48	76					0	0	1	0	0	T	51979052	C	T	51979052	4	4	503	1	0	0	0	0	0	1	0	0	11509	479	17	2	716	2	PARP3	3	51979052	Nonsense_Mutation	SNP	C	TCGA-VW-A7QS-01A-12D-A33T-08	13090561	51979052	146043378	14	38001											
PDIA5	10954	broad.mit.edu	37	3	122849400	122849400	+	Missense_Mutation	SNP	G	G	A	rs145568670		TCGA-VW-A7QS-01A-12D-A33T-08	TCGA-VW-A7QS-10A-02D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	956e5346-11d4-4d05-8ba1-404e24662ec2	3f4313bf-c69c-4fc2-9951-7886601a95db	g.chr3:122849400G>A	ENST00000316218.7	+	11	942	c.847G>A	c.(847-849)Gat>Aat	p.D283N		NM_006810.3	NP_006801.1	Q14554	PDIA5_HUMAN	protein disulfide isomerase family A, member 5	283	Thioredoxin 2.				cell redox homeostasis|glycerol ether metabolic process|protein folding|response to stress	endoplasmic reticulum lumen	electron carrier activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	21				GBM - Glioblastoma multiforme(114;0.0427)		TCACCTGACCGATGAAGACTT	0.587													60	85					0	0	1	0	0	A	122849400	G	A	122849400	3	1	503	1	0	0	0	0	1	0	0	0	11718	1058	37	1	889	1	PDIA5	3	122849400	Missense_Mutation	SNP	G	TCGA-VW-A7QS-01A-12D-A33T-08	70870348	122849400	75173030	15	38002											
KALRN	8997	broad.mit.edu	37	3	124418865	124418865	+	Nonsense_Mutation	SNP	C	C	T			TCGA-VW-A7QS-01A-12D-A33T-08	TCGA-VW-A7QS-10A-02D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	956e5346-11d4-4d05-8ba1-404e24662ec2	3f4313bf-c69c-4fc2-9951-7886601a95db	g.chr3:124418865C>T	ENST00000291478.5	+	23	3053	c.2890C>T	c.(2890-2892)Cga>Tga	p.R964*	KALRN_ENST00000428018.2_Nonsense_Mutation_p.R932*|KALRN_ENST00000360013.3_Nonsense_Mutation_p.R2661*	NM_007064.3	NP_008995.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase						apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						GGAGTTTGTGCGACTTCCAGA	0.597													4	244					0	0	1	0	0	T	124418865	C	T	124418865	4	4	503	1	0	0	0	0	0	1	0	0	8019	760	27	1	8359	1	KALRN	3	124418865	Nonsense_Mutation	SNP	C	TCGA-VW-A7QS-01A-12D-A33T-08	1569465	124418865	73603565	16	38003											
CLCN3	1182	broad.mit.edu	37	4	170610267	170610267	+	Silent	SNP	G	G	A			TCGA-VW-A7QS-01A-12D-A33T-08	TCGA-VW-A7QS-10A-02D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	956e5346-11d4-4d05-8ba1-404e24662ec2	3f4313bf-c69c-4fc2-9951-7886601a95db	g.chr4:170610267G>A	ENST00000513761.1	+	5	1051	c.492G>A	c.(490-492)gcG>gcA	p.A164A	CLCN3_ENST00000504131.2_Silent_p.A147A|CLCN3_ENST00000360642.3_Silent_p.A164A|CLCN3_ENST00000347613.4_Silent_p.A164A	NM_001829.3	NP_001820.2	P51790	CLCN3_HUMAN	chloride channel, voltage-sensitive 3	164					endosomal lumen acidification	cell surface|early endosome membrane|Golgi membrane|integral to membrane|late endosome membrane|transport vesicle membrane	antiporter activity|ATP binding|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|voltage-gated chloride channel activity			breast(5)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	29		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0233)|LUSC - Lung squamous cell carcinoma(193;0.131)		GCCTTAGTGCGTTGTGGTACA	0.438													79	88					0	0	1	0	0	A	170610267	G	A	170610267	2	1	503	1	0	0	0	0	0	0	0	1	3487	1132	40	1		1	CLCN3	4	170610267	Silent	SNP	G	TCGA-VW-A7QS-01A-12D-A33T-08		170610267	20544009	17	38004											
GLRA3	8001	broad.mit.edu	37	4	175603980	175603980	+	Nonsense_Mutation	SNP	G	G	A			TCGA-VW-A7QS-01A-12D-A33T-08	TCGA-VW-A7QS-10A-02D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	956e5346-11d4-4d05-8ba1-404e24662ec2	3f4313bf-c69c-4fc2-9951-7886601a95db	g.chr4:175603980G>A	ENST00000274093.3	-	6	1187	c.685C>T	c.(685-687)Cga>Tga	p.R229*	GLRA3_ENST00000340217.5_Nonsense_Mutation_p.R229*	NM_006529.2	NP_006520.2	O75311	GLRA3_HUMAN	glycine receptor, alpha 3	229					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity			endometrium(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	35		Prostate(90;0.00601)|Breast(14;0.0091)|Melanoma(52;0.00959)|Renal(120;0.0183)|all_neural(102;0.0891)|all_hematologic(60;0.107)		all cancers(43;4.99e-18)|Epithelial(43;1.18e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.88e-09)|STAD - Stomach adenocarcinoma(60;0.00442)|GBM - Glioblastoma multiforme(59;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0421)	Glycine(DB00145)	GTGCAGTATCGTAAATCTTTT	0.368													56	62					0	0	1	0	0	A	175603980	G	A	175603980	4	1	503	1	0	0	0	0	0	1	0	0	6498	1153	40	1	729	1	GLRA3	4	175603980	Nonsense_Mutation	SNP	G	TCGA-VW-A7QS-01A-12D-A33T-08	4993713	175603980	15550296	18	38005											
MAST4	375449	broad.mit.edu	37	5	66459037	66459037	+	Missense_Mutation	SNP	G	G	A			TCGA-VW-A7QS-01A-12D-A33T-08	TCGA-VW-A7QS-10A-02D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	956e5346-11d4-4d05-8ba1-404e24662ec2	3f4313bf-c69c-4fc2-9951-7886601a95db	g.chr5:66459037G>A	ENST00000404260.3	+	29	4347	c.4039G>A	c.(4039-4041)Ggg>Agg	p.G1347R	MAST4_ENST00000403625.2_Missense_Mutation_p.G1344R|MAST4_ENST00000405643.1_Missense_Mutation_p.G1165R|MAST4_ENST00000403666.1_Missense_Mutation_p.G1155R|MAST4_ENST00000261569.7_Missense_Mutation_p.G1150R			O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	1347						cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		AGCAGGGTCCGGGCACATCCG	0.612													28	333					0	0	1	0	0	A	66459037	G	A	66459037	3	1	503	1	0	0	0	0	1	0	0	0	9377	1116	39	1	4274	1	MAST4	5	66459037	Missense_Mutation	SNP	G	TCGA-VW-A7QS-01A-12D-A33T-08		66459037	114456223	19	38006											
FNIP1	96459	broad.mit.edu	37	5	131046325	131046325	+	Missense_Mutation	SNP	C	C	T			TCGA-VW-A7QS-01A-12D-A33T-08	TCGA-VW-A7QS-10A-02D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	956e5346-11d4-4d05-8ba1-404e24662ec2	3f4313bf-c69c-4fc2-9951-7886601a95db	g.chr5:131046325C>T	ENST00000307954.8	-	6	545	c.517G>A	c.(517-519)Gca>Aca	p.A173T	FNIP1_ENST00000511848.1_Missense_Mutation_p.A218T|FNIP1_ENST00000510461.1_Missense_Mutation_p.A218T|FNIP1_ENST00000307968.7_Intron|CTC-432M15.3_ENST00000514667.1_Intron					folliculin interacting protein 1											NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0665)		TCAGAGAATGCCCGCCTGGGG	0.522													3	49					0	0	1	0	0	T	131046325	C	T	131046325	3	4	503	1	0	0	0	0	1	0	0	0	6008	739	26	2	2896	2	FNIP1	5	131046325	Missense_Mutation	SNP	C	TCGA-VW-A7QS-01A-12D-A33T-08	64587288	131046325	49868935	20	38007											
PCDHA3	56145	broad.mit.edu	37	5	140180922	140180922	+	Missense_Mutation	SNP	G	G	A			TCGA-VW-A7QS-01A-12D-A33T-08	TCGA-VW-A7QS-10A-02D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	956e5346-11d4-4d05-8ba1-404e24662ec2	3f4313bf-c69c-4fc2-9951-7886601a95db	g.chr5:140180922G>A	ENST00000522353.2	+	1	140	c.140G>A	c.(139-141)cGc>cAc	p.R47H	PCDHA2_ENST00000520672.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.R47H	NM_018906.2	NP_061729.1												p.R47P(2)		NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCGTGGGCCGCATCGCGCAG	0.657													5	282					0	0	1	0	0	A	140180922	G	A	140180922	3	1	503	1	0	0	0	0	1	0	0	0	11572	1087	38	1	142	1	PCDHA3	5	140180922	Missense_Mutation	SNP	G	TCGA-VW-A7QS-01A-12D-A33T-08	9134597	140180922	40734338	21	38008											
PCDHGA3	56112	broad.mit.edu	37	5	140723837	140723837	+	Silent	SNP	G	G	A			TCGA-VW-A7QS-01A-12D-A33T-08	TCGA-VW-A7QS-10A-02D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	956e5346-11d4-4d05-8ba1-404e24662ec2	3f4313bf-c69c-4fc2-9951-7886601a95db	g.chr5:140723837G>A	ENST00000253812.6	+	1	237	c.237G>A	c.(235-237)ccG>ccA	p.P79P	PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1														breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCTGAATCCGCAAAGCGGCA	0.587											OREG0016855	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	220					0	0	1	0	0	A	140723837	G	A	140723837	2	1	503	1	0	0	0	0	0	0	0	1	11602	1074	38	1		1	PCDHGA3	5	140723837	Silent	SNP	G	TCGA-VW-A7QS-01A-12D-A33T-08	542915	140723837	40191423	22	38009											
CSNK2B	1460	broad.mit.edu	37	6	31636397	31636397	+	Missense_Mutation	SNP	G	G	A			TCGA-VW-A7QS-01A-12D-A33T-08	TCGA-VW-A7QS-10A-02D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	956e5346-11d4-4d05-8ba1-404e24662ec2	3f4313bf-c69c-4fc2-9951-7886601a95db	g.chr6:31636397G>A	ENST00000375880.2	+	4	375	c.257G>A	c.(256-258)cGc>cAc	p.R86H	CSNK2B_ENST00000375885.4_Missense_Mutation_p.R105H|CSNK2B_ENST00000375882.2_Missense_Mutation_p.R86H|CSNK2B_ENST00000375866.2_Missense_Mutation_p.R86H|CSNK2B_ENST00000375865.2_Missense_Mutation_p.R86H																							ATCCACGCCCGCTACATCCTT	0.552													65	58					0	0	1	0	0	A	31636397	G	A	31636397	3	1	503	1	0	0	0	0	1	0	0	0	3984	1087	38	1	267	1	CSNK2B	6	31636397	Missense_Mutation	SNP	G	TCGA-VW-A7QS-01A-12D-A33T-08		31636397	139478670	23	38010											
REV3L	5980	broad.mit.edu	37	6	111694039	111694039	+	Missense_Mutation	SNP	T	T	C			TCGA-VW-A7QS-01A-12D-A33T-08	TCGA-VW-A7QS-10A-02D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	956e5346-11d4-4d05-8ba1-404e24662ec2	3f4313bf-c69c-4fc2-9951-7886601a95db	g.chr6:111694039T>C	ENST00000435970.1	-	15	6101	c.5285A>G	c.(5284-5286)tAt>tGt	p.Y1762C	REV3L_ENST00000358835.3_Missense_Mutation_p.Y1840C|REV3L_ENST00000368805.1_Missense_Mutation_p.Y1840C|REV3L_ENST00000368802.3_Missense_Mutation_p.Y1840C			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	1840					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		TCTTGAAACATACAGTTCTAA	0.433								DNA polymerases (catalytic subunits)					4	347					0	0	1	0	0	C	111694039	T	C	111694039	3	2	503	1	0	0	0	0	1	0	0	0	13292	1406	49	3	3953	3	REV3L	6	111694039	Missense_Mutation	SNP	T	TCGA-VW-A7QS-01A-12D-A33T-08	80057642	111694039	59421028	24	38011											
AKAP9	10142	broad.mit.edu	37	7	91630393	91630396	+	Frame_Shift_Del	DEL	AGAC	AGAC	-	rs146864466		TCGA-VW-A7QS-01A-12D-A33T-08	TCGA-VW-A7QS-10A-02D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	956e5346-11d4-4d05-8ba1-404e24662ec2	3f4313bf-c69c-4fc2-9951-7886601a95db	g.chr7:91630393_91630396delAGAC	ENST00000359028.2	+	9	1423_1426	c.1198_1201delAGAC	c.(1198-1203)agacagfs	p.RQ400fs	AKAP9_ENST00000356239.3_Frame_Shift_Del_p.RQ388fs|AKAP9_ENST00000358100.2_Frame_Shift_Del_p.RQ400fs			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	400	Glu-rich.				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding	p.R400K(1)|p.R388K(1)		NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			gcaaaaagaaagacagtcttctga	0.328			T	BRAF	papillary thyroid								15	48	---	---	---	---						-	91630396	AGAC	-	91630393	7	5	503	1	0	1	0	1	0	0	0	0	456	64	3	0	1192	0	AKAP9	7	91630393	Frame_Shift_Del	DEL	AGAC	TCGA-VW-A7QS-01A-12D-A33T-08		91630393	67508270	25	38012											
SLC26A4	5172	broad.mit.edu	37	7	107340552	107340552	+	Missense_Mutation	SNP	A	A	C			TCGA-VW-A7QS-01A-12D-A33T-08	TCGA-VW-A7QS-10A-02D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	956e5346-11d4-4d05-8ba1-404e24662ec2	3f4313bf-c69c-4fc2-9951-7886601a95db	g.chr7:107340552A>C	ENST00000265715.3	+	15	1863	c.1639A>C	c.(1639-1641)Att>Ctt	p.I547L	SLC26A4_ENST00000480841.1_3'UTR|SLC26A4_ENST00000541474.1_Missense_Mutation_p.I108L|SLC26A4_ENST00000544569.1_Missense_Mutation_p.I134L|SLC26A4_ENST00000543100.1_Missense_Mutation_p.I116L	NM_000441.1	NP_000432.1	O43511	S26A4_HUMAN	solute carrier family 26 (anion exchanger), member 4	547	STAS.				regulation of pH|regulation of protein localization|sensory perception of sound	apical plasma membrane|integral to membrane	chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity			central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						AGGAGTGAAGATTCTTAGATT	0.318									Pendred syndrome				55	121					0	0	1	0	0	C	107340552	A	C	107340552	3	2	503	1	0	0	0	0	1	0	0	0	14574	333	12	4	1693	4	SLC26A4	7	107340552	Missense_Mutation	SNP	A	TCGA-VW-A7QS-01A-12D-A33T-08	15710159	107340552	51798111	26	38013											
KCNS2	3788	broad.mit.edu	37	8	99441273	99441273	+	Missense_Mutation	SNP	G	G	A			TCGA-VW-A7QS-01A-12D-A33T-08	TCGA-VW-A7QS-10A-02D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	956e5346-11d4-4d05-8ba1-404e24662ec2	3f4313bf-c69c-4fc2-9951-7886601a95db	g.chr8:99441273G>A	ENST00000287042.4	+	2	1416	c.1066G>A	c.(1066-1068)Gag>Aag	p.E356K	KCNS2_ENST00000521839.1_Missense_Mutation_p.E356K	NM_020697.2	NP_065748.1	Q9ULS6	KCNS2_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 2	356						voltage-gated potassium channel complex	voltage-gated potassium channel activity			autonomic_ganglia(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	31	Breast(36;2.4e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.0448)			GGAGGAGAACGAGGGCCTGGC	0.577													55	83					0	0	1	0	0	A	99441273	G	A	99441273	3	1	503	1	0	0	0	0	1	0	0	0	8133	1059	37	1	1068	1	KCNS2	8	99441273	Missense_Mutation	SNP	G	TCGA-VW-A7QS-01A-12D-A33T-08		99441273	46922749	27	38014											
HNRNPK	3190	broad.mit.edu	37	9	86588288	86588289	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-VW-A7QS-01A-12D-A33T-08	TCGA-VW-A7QS-10A-02D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	956e5346-11d4-4d05-8ba1-404e24662ec2	3f4313bf-c69c-4fc2-9951-7886601a95db	g.chr9:86588288_86588289delAA	ENST00000376263.3	-	9	651_652	c.428_429delTT	c.(427-429)tttfs	p.F143fs	HNRNPK_ENST00000376281.4_Frame_Shift_Del_p.F143fs|HNRNPK_ENST00000360384.5_Frame_Shift_Del_p.F143fs|HNRNPK_ENST00000351839.3_Frame_Shift_Del_p.F143fs|HNRNPK_ENST00000376264.2_Frame_Shift_Del_p.F143fs|RP11-575L7.8_ENST00000448389.1_RNA	NM_031263.2	NP_112553.1	P61978	HNRPK_HUMAN	heterogeneous nuclear ribonucleoprotein K	143	2 X 22 AA approximate repeats.|5 X 4 AA repeats of G-X-G-G.|Interaction with ASFV p30.|Necessary for interaction with DDX1.				interspecies interaction between organisms|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of receptor-mediated endocytosis|regulation of lipid transport by positive regulation of transcription from an RNA polymerase II promoter|regulation of low-density lipoprotein particle clearance|signal transduction	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nuclear chromatin|nucleoplasm	protein binding|RNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|single-stranded DNA binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|stomach(1)	19						ACTCGCAGTCAAAGTCACTTCC	0.366													26	288	---	---	---	---						-	86588289	AA	-	86588288	7	5	503	1	0	1	0	1	0	0	0	0	7310	127	5	0	1036	0	HNRNPK	9	86588288	Frame_Shift_Del	DEL	AA	TCGA-VW-A7QS-01A-12D-A33T-08		86588288	54625143	28	38015											
ZNF462	58499	broad.mit.edu	37	9	109691748	109691748	+	Missense_Mutation	SNP	T	T	G			TCGA-VW-A7QS-01A-12D-A33T-08	TCGA-VW-A7QS-10A-02D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	956e5346-11d4-4d05-8ba1-404e24662ec2	3f4313bf-c69c-4fc2-9951-7886601a95db	g.chr9:109691748T>G	ENST00000277225.5	+	3	5844	c.5555T>G	c.(5554-5556)tTc>tGc	p.F1852C	ZNF462_ENST00000457913.1_Missense_Mutation_p.F1852C|ZNF462_ENST00000441147.2_Missense_Mutation_p.F697C			Q96JM2	ZN462_HUMAN	zinc finger protein 462	1852					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						ATCAAATGCTTCAAGCTGTCC	0.532													9	131					0	0	1	0	0	G	109691748	T	G	109691748	3	3	503	1	0	0	0	0	1	0	0	0	17983	1783	62	5	5561	5	ZNF462	9	109691748	Missense_Mutation	SNP	T	TCGA-VW-A7QS-01A-12D-A33T-08	23103460	109691748	31521683	29	38016											
NOTCH1	4851	broad.mit.edu	37	9	139412283	139412285	+	In_Frame_Del	DEL	GTT	GTT	-			TCGA-VW-A7QS-01A-12D-A33T-08	TCGA-VW-A7QS-10A-02D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	956e5346-11d4-4d05-8ba1-404e24662ec2	3f4313bf-c69c-4fc2-9951-7886601a95db	g.chr9:139412283_139412285delGTT	ENST00000277541.6	-	8	1435_1437	c.1360_1362delAAC	c.(1360-1362)aacdel	p.N454del		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	454	EGF-like 12; calcium-binding (Potential).				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	p.N454delN(2)		breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		AGACGCACTCGTTGACGTCGATC	0.66			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			66	85	---	---	---	---						-	139412285	GTT	-	139412283	7	5	503	1	0	1	0	1	0	0	0	0	10594	1136	40	0	6413	0	NOTCH1	9	139412283	In_Frame_Del	DEL	GTT	TCGA-VW-A7QS-01A-12D-A33T-08	29720535	139412283	1801148	30	38017											
NOTCH1	4851	broad.mit.edu	37	9	139412664	139412664	+	Missense_Mutation	SNP	C	C	A			TCGA-VW-A7QS-01A-12D-A33T-08	TCGA-VW-A7QS-10A-02D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	956e5346-11d4-4d05-8ba1-404e24662ec2	3f4313bf-c69c-4fc2-9951-7886601a95db	g.chr9:139412664C>A	ENST00000277541.6	-	7	1255	c.1180G>T	c.(1180-1182)Ggc>Tgc	p.G394C		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	394	EGF-like 10.				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		ATGGCCTTGCCATTGACAGGG	0.667			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			9	14					0.00448238	0.00461422	1	1	0	A	139412664	C	A	139412664	3	1	503	1	0	0	0	0	1	0	0	0	10594	594	21	5	6599	5	NOTCH1	9	139412664	Missense_Mutation	SNP	C	TCGA-VW-A7QS-01A-12D-A33T-08	381	139412664	1800767	31	38018											
ITIH5	80760	broad.mit.edu	37	10	7627946	7627946	+	Silent	SNP	T	T	C			TCGA-VW-A7QS-01A-12D-A33T-08	TCGA-VW-A7QS-10A-02D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	956e5346-11d4-4d05-8ba1-404e24662ec2	3f4313bf-c69c-4fc2-9951-7886601a95db	g.chr10:7627946T>C	ENST00000256861.6	-	8	1104	c.1026A>G	c.(1024-1026)gtA>gtG	p.V342V	ITIH5_ENST00000434980.1_5'UTR|ITIH5_ENST00000397146.2_Silent_p.V342V|ITIH5_ENST00000446830.2_Silent_p.V124V|ITIH5_ENST00000298441.6_Silent_p.V128V|ITIH5_ENST00000397145.2_Silent_p.V342V	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	342	VWFA.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						GGTCCTTCCATACTTTGATCC	0.473													40	59					0	0	1	0	0	C	7627946	T	C	7627946	2	2	503	1	0	0	0	0	0	0	0	1	7951	1393	49	3		3	ITIH5	10	7627946	Silent	SNP	T	TCGA-VW-A7QS-01A-12D-A33T-08		7627946	127906801	32	38019											
HELLS	3070	broad.mit.edu	37	10	96334429	96334429	+	Missense_Mutation	SNP	T	T	C			TCGA-VW-A7QS-01A-12D-A33T-08	TCGA-VW-A7QS-10A-02D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	956e5346-11d4-4d05-8ba1-404e24662ec2	3f4313bf-c69c-4fc2-9951-7886601a95db	g.chr10:96334429T>C	ENST00000348459.5	+	9	929	c.824T>C	c.(823-825)cTt>cCt	p.L275P	HELLS_ENST00000394044.1_Missense_Mutation_p.L275P|HELLS_ENST00000371332.4_Missense_Mutation_p.L275P|HELLS_ENST00000239026.6_3'UTR|HELLS_ENST00000394045.1_Missense_Mutation_p.L275P|HELLS_ENST00000394036.1_3'UTR	NM_018063.3	NP_060533.2	Q9NRZ9	HELLS_HUMAN	helicase, lymphoid-specific	275	Helicase ATP-binding.				cell division|centromeric heterochromatin formation|lymphocyte proliferation|maintenance of DNA methylation|methylation-dependent chromatin silencing|mitosis|transcription, DNA-dependent	centromeric heterochromatin|nucleus	ATP binding|DNA binding|helicase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22		Colorectal(252;0.0429)		all cancers(201;2.13e-05)		GGACCTTTTCTTGTCTGTGGC	0.373													65	240					0	0	1	0	0	C	96334429	T	C	96334429	3	2	503	1	0	0	0	0	1	0	0	0	7087	1609	56	3	858	3	HELLS	10	96334429	Missense_Mutation	SNP	T	TCGA-VW-A7QS-01A-12D-A33T-08	88706483	96334429	39200318	33	38020											
OR51G2	81282	broad.mit.edu	37	11	4936857	4936857	+	Missense_Mutation	SNP	C	C	T			TCGA-VW-A7QS-01A-12D-A33T-08	TCGA-VW-A7QS-10A-02D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	956e5346-11d4-4d05-8ba1-404e24662ec2	3f4313bf-c69c-4fc2-9951-7886601a95db	g.chr11:4936857C>T	ENST00000322013.3	-	1	65	c.37G>A	c.(37-39)Gtt>Att	p.V13I	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001005238.1	NP_001005238.1	Q8NGK0	O51G2_HUMAN	olfactory receptor, family 51, subfamily G, member 2	13					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|large_intestine(9)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		GTAGCAGAAACGCTGCTGCTG	0.557													49	60					0	0	1	0	0	T	4936857	C	T	4936857	3	4	503	1	0	0	0	0	1	0	0	0	11147	536	19	1	911	1	OR51G2	11	4936857	Missense_Mutation	SNP	C	TCGA-VW-A7QS-01A-12D-A33T-08		4936857	130069659	34	38021											
DCHS1	8642	broad.mit.edu	37	11	6644395	6644395	+	Missense_Mutation	SNP	T	T	C			TCGA-VW-A7QS-01A-12D-A33T-08	TCGA-VW-A7QS-10A-02D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	956e5346-11d4-4d05-8ba1-404e24662ec2	3f4313bf-c69c-4fc2-9951-7886601a95db	g.chr11:6644395T>C	ENST00000299441.3	-	21	8923	c.8512A>G	c.(8512-8514)Aca>Gca	p.T2838A		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	2838	Cadherin 27.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCCTCATCTGTGGCCTGCACG	0.572													13	18					0	0	1	0	0	C	6644395	T	C	6644395	3	2	503	1	0	0	0	0	1	0	0	0	4310	1696	59	3	1388	3	DCHS1	11	6644395	Missense_Mutation	SNP	T	TCGA-VW-A7QS-01A-12D-A33T-08	1707538	6644395	128362121	35	38022											
HTR3A	3359	broad.mit.edu	37	11	113857553	113857553	+	Missense_Mutation	SNP	A	A	C			TCGA-VW-A7QS-01A-12D-A33T-08	TCGA-VW-A7QS-10A-02D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	956e5346-11d4-4d05-8ba1-404e24662ec2	3f4313bf-c69c-4fc2-9951-7886601a95db	g.chr11:113857553A>C	ENST00000504030.2	+	8	1368	c.923A>C	c.(922-924)tAc>tCc	p.Y308S	HTR3A_ENST00000299961.5_Missense_Mutation_p.Y293S|HTR3A_ENST00000506841.2_Missense_Mutation_p.Y340S|HTR3A_ENST00000375498.2_Missense_Mutation_p.Y314S|HTR3A_ENST00000355556.2_Missense_Mutation_p.Y346S|HTR3A_ENST00000535865.1_Missense_Mutation_p.Y52S			P46098	5HT3A_HUMAN	5-hydroxytryptamine (serotonin) receptor 3A, ionotropic	308					digestion|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199)	ACAGGTGTCTACTTTGTGGTG	0.602													22	156					0	0	1	0	0	C	113857553	A	C	113857553	3	2	503	1	0	0	0	0	1	0	0	0	7488	391	14	5	1089	5	HTR3A	11	113857553	Missense_Mutation	SNP	A	TCGA-VW-A7QS-01A-12D-A33T-08	107213158	113857553	21148963	36	38023											
WNK1	65125	broad.mit.edu	37	12	936450	936450	+	Missense_Mutation	SNP	G	G	T			TCGA-VW-A7QS-01A-12D-A33T-08	TCGA-VW-A7QS-10A-02D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	956e5346-11d4-4d05-8ba1-404e24662ec2	3f4313bf-c69c-4fc2-9951-7886601a95db	g.chr12:936450G>T	ENST00000447667.2	+	3	1685	c.1175G>T	c.(1174-1176)gGa>gTa	p.G392V	WNK1_ENST00000535572.1_Intron|WNK1_ENST00000315939.6_Intron|WNK1_ENST00000537687.1_Intron|WNK1_ENST00000530271.2_Intron			Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	0	Protein kinase.				intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			GTGTACCTTGGAGCCTGACTG	0.453													10	122					0.000442599	0.000462417	1	1	0	T	936450	G	T	936450	3	4	503	1	0	0	0	0	1	0	0	0	17437	1189	41	5		5	WNK1	12	936450	Missense_Mutation	SNP	G	TCGA-VW-A7QS-01A-12D-A33T-08		936450	132915445	37	38024											
LHX5	64211	broad.mit.edu	37	12	113906197	113906197	+	Missense_Mutation	SNP	G	G	A			TCGA-VW-A7QS-01A-12D-A33T-08	TCGA-VW-A7QS-10A-02D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	956e5346-11d4-4d05-8ba1-404e24662ec2	3f4313bf-c69c-4fc2-9951-7886601a95db	g.chr12:113906197G>A	ENST00000261731.3	-	3	983	c.410C>T	c.(409-411)aCg>aTg	p.T137M		NM_022363.2	NP_071758.1	Q9H2C1	LHX5_HUMAN	LIM homeobox 5	137						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	10						ACTGCGGTCCGTACAGGATGA	0.662													23	33					0	0	1	0	0	A	113906197	G	A	113906197	3	1	503	1	0	0	0	0	1	0	0	0	8814	1145	40	1	810	1	LHX5	12	113906197	Missense_Mutation	SNP	G	TCGA-VW-A7QS-01A-12D-A33T-08	112969747	113906197	19945698	38	38025											
SACS	26278	broad.mit.edu	37	13	23909715	23909715	+	Missense_Mutation	SNP	C	C	T			TCGA-VW-A7QS-01A-12D-A33T-08	TCGA-VW-A7QS-10A-02D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	956e5346-11d4-4d05-8ba1-404e24662ec2	3f4313bf-c69c-4fc2-9951-7886601a95db	g.chr13:23909715C>T	ENST00000382298.3	-	10	8888	c.8300G>A	c.(8299-8301)gGc>gAc	p.G2767D	SACS_ENST00000382292.3_Missense_Mutation_p.G2767D|SACS_ENST00000402364.1_Missense_Mutation_p.G2017D	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	2767					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		TGTGATTTTGCCCTTTACTGA	0.348													4	206					0	0	1	0	0	T	23909715	C	T	23909715	3	4	503	1	0	0	0	0	1	0	0	0	13856	739	26	2	5443	2	SACS	13	23909715	Missense_Mutation	SNP	C	TCGA-VW-A7QS-01A-12D-A33T-08		23909715	91260163	39	38026											
MYCBP2	23077	broad.mit.edu	37	13	77667377	77667377	+	Silent	SNP	C	C	T			TCGA-VW-A7QS-01A-12D-A33T-08	TCGA-VW-A7QS-10A-02D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	956e5346-11d4-4d05-8ba1-404e24662ec2	3f4313bf-c69c-4fc2-9951-7886601a95db	g.chr13:77667377C>T	ENST00000407578.2	-	59	10556	c.10290G>A	c.(10288-10290)ccG>ccA	p.P3430P	MYCBP2_ENST00000357337.6_Silent_p.P3392P|MYCBP2_ENST00000544440.2_Silent_p.P3392P|MYCBP2-AS1_ENST00000593933.1_RNA	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	3392					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		CTGATATATACGGGGCAGGTA	0.393													116	143					0	0	1	0	0	T	77667377	C	T	77667377	2	4	503	1	0	0	0	0	0	0	0	1	10066	523	19	1		1	MYCBP2	13	77667377	Silent	SNP	C	TCGA-VW-A7QS-01A-12D-A33T-08	53757662	77667377	37502501	40	38027											
RNASE13	440163	broad.mit.edu	37	14	21502144	21502144	+	Missense_Mutation	SNP	G	G	C			TCGA-VW-A7QS-01A-12D-A33T-08	TCGA-VW-A7QS-10A-02D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	956e5346-11d4-4d05-8ba1-404e24662ec2	3f4313bf-c69c-4fc2-9951-7886601a95db	g.chr14:21502144G>C	ENST00000382951.3	-	2	441	c.304C>G	c.(304-306)Ctc>Gtc	p.L102V	NDRG2_ENST00000403829.3_Intron	NM_001012264.3	NP_001012264.1	Q5GAN3	RNS13_HUMAN	ribonuclease, RNase A family, 13 (non-active)	102						extracellular region	nucleic acid binding|pancreatic ribonuclease activity			cervix(1)|endometrium(1)|lung(5)|ovary(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	12	all_cancers(95;0.000759)		OV - Ovarian serous cystadenocarcinoma(11;6.85e-11)|Epithelial(56;9.49e-09)|all cancers(55;3.84e-08)	GBM - Glioblastoma multiforme(265;0.019)		TCCTGGGTGAGTGTGCAGTAT	0.498													94	129					0	0	1	0	0	C	21502144	G	C	21502144	3	2	503	1	0	0	0	0	1	0	0	0	13455	1029	36	4	170	4	RNASE13	14	21502144	Missense_Mutation	SNP	G	TCGA-VW-A7QS-01A-12D-A33T-08		21502144	85847396	41	38028											
MYH7	4625	broad.mit.edu	37	14	23889440	23889440	+	Missense_Mutation	SNP	G	G	A			TCGA-VW-A7QS-01A-12D-A33T-08	TCGA-VW-A7QS-10A-02D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	956e5346-11d4-4d05-8ba1-404e24662ec2	3f4313bf-c69c-4fc2-9951-7886601a95db	g.chr14:23889440G>A	ENST00000355349.3	-	27	3502	c.3340C>T	c.(3340-3342)Cgc>Tgc	p.R1114C		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1114					adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		tcctcGATGCGTGCCTGGTCA	0.637													3	49					0	0	1	0	0	A	23889440	G	A	23889440	3	1	503	1	0	0	0	0	1	0	0	0	10087	1145	40	1	2523	1	MYH7	14	23889440	Missense_Mutation	SNP	G	TCGA-VW-A7QS-01A-12D-A33T-08	2387296	23889440	83460100	42	38029											
UNKL	64718	broad.mit.edu	37	16	1451675	1451675	+	Silent	SNP	C	C	T			TCGA-VW-A7QS-01A-12D-A33T-08	TCGA-VW-A7QS-10A-02D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	956e5346-11d4-4d05-8ba1-404e24662ec2	3f4313bf-c69c-4fc2-9951-7886601a95db	g.chr16:1451675C>T	ENST00000389221.4	-	4	491	c.492G>A	c.(490-492)caG>caA	p.Q164Q	UNKL_ENST00000301712.5_Silent_p.Q164Q|UNKL_ENST00000503648.1_5'UTR|UNKL_ENST00000508903.2_Silent_p.Q164Q|UNKL_ENST00000397462.1_Silent_p.Q251Q	NM_001193388.1	NP_001180317	Q9H9P5	UNKL_HUMAN	unkempt family zinc finger-like	164						cytoplasm|nucleus	ligase activity|nucleic acid binding|zinc ion binding			autonomic_ganglia(1)|endometrium(1)|large_intestine(1)|lung(1)	4		Hepatocellular(780;0.0893)				GCTGGCCGTTCTGCAAGGCTT	0.647													3	61					0	0	1	0	0	T	1451675	C	T	1451675	2	4	503	1	0	0	0	0	0	0	0	1	17061	912	32	2		2	UNKL	16	1451675	Silent	SNP	C	TCGA-VW-A7QS-01A-12D-A33T-08		1451675	88903078	43	38030											
CX3CL1	6376	broad.mit.edu	37	16	57416150	57416150	+	Missense_Mutation	SNP	G	G	A			TCGA-VW-A7QS-01A-12D-A33T-08	TCGA-VW-A7QS-10A-02D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	956e5346-11d4-4d05-8ba1-404e24662ec2	3f4313bf-c69c-4fc2-9951-7886601a95db	g.chr16:57416150G>A	ENST00000565912.1	+	2	2992	c.286G>A	c.(286-288)Gaa>Aaa	p.E96K	CX3CL1_ENST00000006053.6_Missense_Mutation_p.E134K|CX3CL1_ENST00000563383.1_Missense_Mutation_p.E140K|CX3CL1_ENST00000564948.1_3'UTR			P78423	X3CL1_HUMAN	chemokine (C-X3-C motif) ligand 1	134	Chemokine.				cell adhesion|cytokine-mediated signaling pathway|defense response|immune response|leukocyte adhesive activation|positive regulation of calcium-independent cell-cell adhesion|positive regulation of inflammatory response	cell surface|extracellular space|integral to membrane|plasma membrane	chemokine activity			breast(1)|endometrium(1)|large_intestine(1)|lung(2)	5						AGCCACAGGCGAAAGCAGTAG	0.667													4	114					0	0	1	0	0	A	57416150	G	A	57416150	3	1	503	1	0	0	0	0	1	0	0	0	4097	1059	37	1	410	1	CX3CL1	16	57416150	Missense_Mutation	SNP	G	TCGA-VW-A7QS-01A-12D-A33T-08	55964475	57416150	32938603	44	38031											
PRKCA	5578	broad.mit.edu	37	17	64684479	64684479	+	Missense_Mutation	SNP	G	G	A			TCGA-VW-A7QS-01A-12D-A33T-08	TCGA-VW-A7QS-10A-02D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	956e5346-11d4-4d05-8ba1-404e24662ec2	3f4313bf-c69c-4fc2-9951-7886601a95db	g.chr17:64684479G>A	ENST00000413366.3	+	7	772	c.746G>A	c.(745-747)cGa>cAa	p.R249Q		NM_002737.2	NP_002728	P17252	KPCA_HUMAN	protein kinase C, alpha	249	C2.				activation of phospholipase C activity|energy reserve metabolic process|induction of apoptosis by extracellular signals|intracellular signal transduction|mRNA metabolic process|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of blood vessel endothelial cell migration|regulation of insulin secretion|response to interleukin-1|synaptic transmission	cytosol|endoplasmic reticulum|membrane fraction|nucleoplasm|plasma membrane	ATP binding|enzyme binding|histone kinase activity (H3-T6 specific)|protein kinase C activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38			BRCA - Breast invasive adenocarcinoma(6;4.68e-09)		Phosphatidylserine(DB00144)|Vitamin E(DB00163)	GACTGGGATCGAACAACAAGG	0.463													61	83					0	0	1	0	0	A	64684479	G	A	64684479	3	1	503	1	0	0	0	0	1	0	0	0	12559	1058	37	1	772	1	PRKCA	17	64684479	Missense_Mutation	SNP	G	TCGA-VW-A7QS-01A-12D-A33T-08		64684479	16510731	45	38032											
MYO5B	4645	broad.mit.edu	37	18	47369674	47369674	+	Silent	SNP	G	G	A			TCGA-VW-A7QS-01A-12D-A33T-08	TCGA-VW-A7QS-10A-02D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	956e5346-11d4-4d05-8ba1-404e24662ec2	3f4313bf-c69c-4fc2-9951-7886601a95db	g.chr18:47369674G>A	ENST00000285039.7	-	34	4847	c.4548C>T	c.(4546-4548)aaC>aaT	p.N1516N	SCARNA17_ENST00000589499.1_RNA|MYO5B_ENST00000324581.6_Silent_p.N631N|MYO5B_ENST00000592688.1_Silent_p.N86N	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	1516					protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		TGAGATCGTCGTTGGTGTAGT	0.567													64	72					0	0	1	0	0	A	47369674	G	A	47369674	2	1	503	1	0	0	0	0	0	0	0	1	10127	1136	40	1		1	MYO5B	18	47369674	Silent	SNP	G	TCGA-VW-A7QS-01A-12D-A33T-08		47369674	30707574	46	38033											
ARHGEF18	23370	broad.mit.edu	37	19	7528785	7528785	+	Missense_Mutation	SNP	C	C	T	rs149572002		TCGA-VW-A7QS-01A-12D-A33T-08	TCGA-VW-A7QS-10A-02D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	956e5346-11d4-4d05-8ba1-404e24662ec2	3f4313bf-c69c-4fc2-9951-7886601a95db	g.chr19:7528785C>T	ENST00000359920.6	+	12	2406	c.2153C>T	c.(2152-2154)cCg>cTg	p.P718L	CTD-2207O23.3_ENST00000593531.1_Missense_Mutation_p.R676C|ARHGEF18_ENST00000319670.9_Missense_Mutation_p.P560L	NM_001130955.1	NP_001124427.1	Q6ZSZ5	ARHGI_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 18	718					actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of cell shape|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1)	23		Renal(5;0.0902)				TCCACAGGCCCGCCCAGGAGG	0.682													10	12					0	0	1	0	0	T	7528785	C	T	7528785	3	4	503	1	0	0	0	0	1	0	0	0	898	652	23	1	2199	1	ARHGEF18	19	7528785	Missense_Mutation	SNP	C	TCGA-VW-A7QS-01A-12D-A33T-08		7528785	51600198	47	38034											
ZNF558	148156	broad.mit.edu	37	19	8923829	8923829	+	Missense_Mutation	SNP	C	C	G			TCGA-VW-A7QS-01A-12D-A33T-08	TCGA-VW-A7QS-10A-02D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	956e5346-11d4-4d05-8ba1-404e24662ec2	3f4313bf-c69c-4fc2-9951-7886601a95db	g.chr19:8923829C>G	ENST00000601372.1	-	8	1028	c.317G>C	c.(316-318)aGa>aCa	p.R106T	ZNF558_ENST00000301475.1_Missense_Mutation_p.R106T|ZNF558_ENST00000444186.2_Missense_Mutation_p.R35T			Q96NG5	ZN558_HUMAN	zinc finger protein 558	106	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	15						TAGAATTCCTCTTTCCTCTGT	0.463													11	8					0	0	1	0	0	G	8923829	C	G	8923829	3	3	503	1	0	0	0	0	1	0	0	0	18046	913	32	4	903	4	ZNF558	19	8923829	Missense_Mutation	SNP	C	TCGA-VW-A7QS-01A-12D-A33T-08	1395044	8923829	50205154	48	38035											
ZSWIM4	65249	broad.mit.edu	37	19	13941471	13941471	+	Silent	SNP	G	G	A			TCGA-VW-A7QS-01A-12D-A33T-08	TCGA-VW-A7QS-10A-02D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	956e5346-11d4-4d05-8ba1-404e24662ec2	3f4313bf-c69c-4fc2-9951-7886601a95db	g.chr19:13941471G>A	ENST00000254323.2	+	13	2766	c.2577G>A	c.(2575-2577)cgG>cgA	p.R859R	ZSWIM4_ENST00000440752.2_Silent_p.R693R	NM_023072.2	NP_075560.2	Q9H7M6	ZSWM4_HUMAN	zinc finger, SWIM-type containing 4	859							zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27			OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19)			CCCTGGGCCGGCACGAGCTCT	0.657													5	370					0	0	1	0	0	A	13941471	G	A	13941471	2	1	503	1	0	0	0	0	0	0	0	1	18283	1190	42	2		2	ZSWIM4	19	13941471	Silent	SNP	G	TCGA-VW-A7QS-01A-12D-A33T-08	5017642	13941471	45187512	49	38036											
F2RL3	9002	broad.mit.edu	37	19	17000696	17000696	+	Missense_Mutation	SNP	G	G	A			TCGA-VW-A7QS-01A-12D-A33T-08	TCGA-VW-A7QS-10A-02D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	956e5346-11d4-4d05-8ba1-404e24662ec2	3f4313bf-c69c-4fc2-9951-7886601a95db	g.chr19:17000696G>A	ENST00000248076.3	+	2	752	c.422G>A	c.(421-423)cGc>cAc	p.R141H	F2RL3_ENST00000599210.1_3'UTR	NM_003950.2	NP_003941.2	Q96RI0	PAR4_HUMAN	coagulation factor II (thrombin) receptor-like 3	141					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|platelet activation|positive regulation of release of sequestered calcium ion into cytosol	extracellular region|integral to plasma membrane	thrombin receptor activity			cervix(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						CGTGGCCAGCGCTGGCCCTTC	0.711													17	15					0	0	1	0	0	A	17000696	G	A	17000696	3	1	503	1	0	0	0	0	1	0	0	0	5374	1087	38	1	428	1	F2RL3	19	17000696	Missense_Mutation	SNP	G	TCGA-VW-A7QS-01A-12D-A33T-08	3059225	17000696	42128287	50	38037											
ANO8	57719	broad.mit.edu	37	19	17439421	17439422	+	In_Frame_Ins	INS	-	-	TCC			TCGA-VW-A7QS-01A-12D-A33T-08	TCGA-VW-A7QS-10A-02D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	956e5346-11d4-4d05-8ba1-404e24662ec2	3f4313bf-c69c-4fc2-9951-7886601a95db	g.chr19:17439421_17439422insTCC	ENST00000159087.4	-	13	1933_1934	c.1775_1776insGGA	c.(1774-1776)gac>gaGGAc	p.591_592insE		NM_020959.2	NP_066010.1	Q9HCE9	ANO8_HUMAN	anoctamin 8	591	Glu-rich.					chloride channel complex	chloride channel activity			autonomic_ganglia(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(3)	27						cttcctcctcgtcctcctcctc	0.743													2	4	---	---	---	---						TCC	17439422	-	TCC	17439421	7	5	503	1	0	1	1	0	0	0	0	0	697	1136	40	0	1946	0	ANO8	19	17439421	In_Frame_Ins	INS	-	TCGA-VW-A7QS-01A-12D-A33T-08	438725	17439421	41689562	51	38038											
NINL	22981	broad.mit.edu	37	20	25507065	25507065	+	Silent	SNP	G	G	T	rs142387243		TCGA-VW-A7QS-01A-12D-A33T-08	TCGA-VW-A7QS-10A-02D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	956e5346-11d4-4d05-8ba1-404e24662ec2	3f4313bf-c69c-4fc2-9951-7886601a95db	g.chr20:25507065G>T	ENST00000278886.6	-	2	232	c.159C>A	c.(157-159)ctC>ctA	p.L53L	NINL_ENST00000422516.1_Silent_p.L53L	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	53	EF-hand 2.				G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						GGTCGTTTCCGAGAAGCGTCT	0.542													108	165					7.5252e-50	8.10406e-50	1	1	0	T	25507065	G	T	25507065	2	4	503	1	0	0	0	0	0	0	0	1	10467	1045	37	5		5	NINL	20	25507065	Silent	SNP	G	TCGA-VW-A7QS-01A-12D-A33T-08		25507065	37518455	52	38039											
ZHX3	23051	broad.mit.edu	37	20	39832611	39832611	+	Missense_Mutation	SNP	T	T	C			TCGA-VW-A7QS-01A-12D-A33T-08	TCGA-VW-A7QS-10A-02D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	956e5346-11d4-4d05-8ba1-404e24662ec2	3f4313bf-c69c-4fc2-9951-7886601a95db	g.chr20:39832611T>C	ENST00000309060.3	-	4	1361	c.946A>G	c.(946-948)Aac>Gac	p.N316D	ZHX3_ENST00000557816.1_Intron|ZHX3_ENST00000558993.1_Intron|ZHX3_ENST00000432768.2_Missense_Mutation_p.N316D|ZHX3_ENST00000540170.1_Missense_Mutation_p.N316D|ZHX3_ENST00000559234.1_Missense_Mutation_p.N316D|ZHX3_ENST00000544979.2_Missense_Mutation_p.N316D|ZHX3_ENST00000560361.1_Missense_Mutation_p.N316D			Q9H4I2	ZHX3_HUMAN	zinc fingers and homeoboxes 3	316	Required for homodimerization and interaction with NFYA.|Required for repressor activity.				negative regulation of transcription, DNA-dependent	cytoplasm|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(5)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		Myeloproliferative disorder(115;0.00425)				AGGAAGCTGTTAGAGTCCATG	0.537													16	122					0	0	1	0	0	C	39832611	T	C	39832611	3	2	503	1	0	0	0	0	1	0	0	0	17735	1754	61	3	1932	3	ZHX3	20	39832611	Missense_Mutation	SNP	T	TCGA-VW-A7QS-01A-12D-A33T-08	14325546	39832611	23192909	53	38040											
USP25	29761	broad.mit.edu	37	21	17203875	17203876	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-VW-A7QS-01A-12D-A33T-08	TCGA-VW-A7QS-10A-02D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	956e5346-11d4-4d05-8ba1-404e24662ec2	3f4313bf-c69c-4fc2-9951-7886601a95db	g.chr21:17203875_17203876delTT	ENST00000285681.2	+	16	2289_2290	c.1920_1921delTT	c.(1918-1923)tcttttfs	p.F641fs	USP25_ENST00000285679.6_Frame_Shift_Del_p.F641fs|USP25_ENST00000351097.5_Intron|USP25_ENST00000400183.2_Frame_Shift_Del_p.F641fs	NM_001283042.1	NP_001269971.1	Q9UHP3	UBP25_HUMAN	ubiquitin specific peptidase 25	641					protein modification process|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(4)|endometrium(6)|kidney(2)|large_intestine(13)|liver(5)|lung(14)|ovary(4)|prostate(1)|skin(1)|urinary_tract(2)	52				Epithelial(23;7.55e-05)|all cancers(11;0.000429)|COAD - Colon adenocarcinoma(22;0.00543)|OV - Ovarian serous cystadenocarcinoma(11;0.00743)|Colorectal(24;0.0116)|Lung(58;0.0853)|LUSC - Lung squamous cell carcinoma(23;0.0889)		TGAGGGACTCTTTTGGTGGTTA	0.366													72	139	---	---	---	---						-	17203876	TT	-	17203875	7	5	503	1	0	1	0	1	0	0	0	0	17116	1596	56	0	1982	0	USP25	21	17203875	Frame_Shift_Del	DEL	TT	TCGA-VW-A7QS-01A-12D-A33T-08		17203875	30926020	54	38041											
CRLF2	64109	broad.mit.edu	37	X	1325396	1325396	+	Silent	SNP	G	G	A			TCGA-VW-A7QS-01A-12D-A33T-08	TCGA-VW-A7QS-10A-02D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	956e5346-11d4-4d05-8ba1-404e24662ec2	3f4313bf-c69c-4fc2-9951-7886601a95db	g.chrX:1325396G>A	ENST00000381567.3	-	3	278	c.279C>T	c.(277-279)gaC>gaT	p.D93D	CRLF2_ENST00000467626.1_5'UTR|CRLF2_ENST00000381566.1_Silent_p.D93D	NM_022148.2	NP_071431.2	Q9HC73	CRLF2_HUMAN	cytokine receptor-like factor 2	93						extracellular region|integral to membrane|plasma membrane	receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(10)|lung(9)	20		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				AATAGAGAATGTCGTCTCGCT	0.517			"Mis, T"	"P2RY8, IGH@"	"B-ALL, Downs associated ALL"								25	189					0	0	1	0	0	A	1325396	G	A	1325396	2	1	503	1	0	0	0	0	0	0	0	1	3910	1368	48	2		2	CRLF2	23	1325396	Silent	SNP	G	TCGA-VW-A7QS-01A-12D-A33T-08		1325396	153945164	55	38042											
SHROOM2	357	broad.mit.edu	37	X	9907313	9907313	+	Silent	SNP	G	G	A			TCGA-VW-A7QS-01A-12D-A33T-08	TCGA-VW-A7QS-10A-02D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	956e5346-11d4-4d05-8ba1-404e24662ec2	3f4313bf-c69c-4fc2-9951-7886601a95db	g.chrX:9907313G>A	ENST00000380913.3	+	8	4308	c.4218G>A	c.(4216-4218)gcG>gcA	p.A1406A	SHROOM2_ENST00000418909.2_Silent_p.A241A	NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN	shroom family member 2	1406	ASD2.				apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization	apical plasma membrane|cell-cell adherens junction|microtubule|tight junction	actin filament binding|beta-catenin binding|ligand-gated sodium channel activity			breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57		Hepatocellular(5;0.000888)				CCCCCAAGGCGGAGCTGCTGA	0.597													20	29					0	0	1	0	0	A	9907313	G	A	9907313	2	1	503	1	0	0	0	0	0	0	0	1	14349	1103	39	1		1	SHROOM2	23	9907313	Silent	SNP	G	TCGA-VW-A7QS-01A-12D-A33T-08	8581917	9907313	145363247	56	38043											
SH3KBP1	30011	broad.mit.edu	37	X	19713826	19713826	+	Missense_Mutation	SNP	C	C	A			TCGA-VW-A7QS-01A-12D-A33T-08	TCGA-VW-A7QS-10A-02D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	956e5346-11d4-4d05-8ba1-404e24662ec2	3f4313bf-c69c-4fc2-9951-7886601a95db	g.chrX:19713826C>A	ENST00000397821.3	-	5	714	c.424G>T	c.(424-426)Ggg>Tgg	p.G142W	SH3KBP1_ENST00000379697.3_Missense_Mutation_p.G142W|SH3KBP1_ENST00000379698.4_Missense_Mutation_p.G105W	NM_031892.2	NP_114098.1	Q96B97	SH3K1_HUMAN	SH3-domain kinase binding protein 1	142	SH3 2.				apoptosis|cell-cell signaling|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	cytoplasmic vesicle membrane|cytoskeleton|cytosol|focal adhesion|nucleus|synapse|synaptosome	SH3 domain binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(4)	29						CCAGTCTTCCCGTTGAGAACA	0.473													13	224					0.000219431	0.00023273	1	1	0	A	19713826	C	A	19713826	3	1	503	1	0	0	0	0	1	0	0	0	14310	652	23	5	1645	5	SH3KBP1	23	19713826	Missense_Mutation	SNP	C	TCGA-VW-A7QS-01A-12D-A33T-08	9806513	19713826	135556734	57	38044											
GAGE2A	729447	broad.mit.edu	37	X	49355814	49355816	+	In_Frame_Del	DEL	TGA	TGA	-			TCGA-VW-A7QS-01A-12D-A33T-08	TCGA-VW-A7QS-10A-02D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	956e5346-11d4-4d05-8ba1-404e24662ec2	3f4313bf-c69c-4fc2-9951-7886601a95db	g.chrX:49355814_49355816delTGA	ENST00000362097.1	+	3	179_181	c.96_98delTGA	c.(94-99)agtgat>agt	p.D33del		NM_001127212.1	NP_001120684.1			G antigen 2A											endometrium(4)	4	Ovarian(276;0.236)					AGCAGTTCAGTGATGAAGTGGAA	0.453													15	1285	---	---	---	---						-	49355816	TGA	-	49355814	7	5	503	1	0	1	0	1	0	0	0	0	6226	1693	59	0	1203	0	GAGE2A	23	49355814	In_Frame_Del	DEL	TGA	TCGA-VW-A7QS-01A-12D-A33T-08	29641988	49355814	105914746	58	38045											
DGAT2L6	347516	broad.mit.edu	37	X	69424320	69424320	+	Silent	SNP	C	C	T			TCGA-VW-A7QS-01A-12D-A33T-08	TCGA-VW-A7QS-10A-02D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	956e5346-11d4-4d05-8ba1-404e24662ec2	3f4313bf-c69c-4fc2-9951-7886601a95db	g.chrX:69424320C>T	ENST00000333026.3	+	6	913	c.813C>T	c.(811-813)cgC>cgT	p.R271R		NM_198512.1	NP_940914.1	Q6ZPD8	DG2L6_HUMAN	diacylglycerol O-acyltransferase 2-like 6	271					lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity			breast(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(1)	12						GCTTCACTCGCGGATCCTGGG	0.502													65	86					0	0	1	0	0	T	69424320	C	T	69424320	2	4	503	1	0	0	0	0	0	0	0	1	4487	755	27	1		1	DGAT2L6	23	69424320	Silent	SNP	C	TCGA-VW-A7QS-01A-12D-A33T-08	20068506	69424320	85846240	59	38046											
RGAG1	57529	broad.mit.edu	37	X	109694736	109694736	+	Silent	SNP	G	G	A			TCGA-VW-A7QS-01A-12D-A33T-08	TCGA-VW-A7QS-10A-02D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	956e5346-11d4-4d05-8ba1-404e24662ec2	3f4313bf-c69c-4fc2-9951-7886601a95db	g.chrX:109694736G>A	ENST00000465301.2	+	3	1137	c.891G>A	c.(889-891)ccG>ccA	p.P297P	RGAG1_ENST00000540313.1_Silent_p.P297P	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	297										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						TACCTACCCCGCTCATGTCAG	0.483													5	431					0	0	1	0	0	A	109694736	G	A	109694736	2	1	503	1	0	0	0	0	0	0	0	1	13326	1074	38	1		1	RGAG1	23	109694736	Silent	SNP	G	TCGA-VW-A7QS-01A-12D-A33T-08	40270416	109694736	45575824	60	38047											
AMOT	154796	broad.mit.edu	37	X	112058796	112058796	+	Silent	SNP	C	C	T			TCGA-VW-A7QS-01A-12D-A33T-08	TCGA-VW-A7QS-10A-02D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	956e5346-11d4-4d05-8ba1-404e24662ec2	3f4313bf-c69c-4fc2-9951-7886601a95db	g.chrX:112058796C>T	ENST00000371959.3	-	2	1181	c.1182G>A	c.(1180-1182)caG>caA	p.Q394Q	AMOT_ENST00000524145.1_Silent_p.Q394Q|AMOT_ENST00000304758.1_5'UTR|AMOT_ENST00000371958.1_Silent_p.Q162Q|AMOT_ENST00000371962.1_Silent_p.Q162Q	NM_001113490.1	NP_001106962.1	Q4VCS5	AMOT_HUMAN	angiomotin	394					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	p.Q394Q(1)		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						gctgctgctgctgttgttggt	0.582													4	99					0	0	1	0	0	T	112058796	C	T	112058796	2	4	503	1	0	0	0	0	0	0	0	1	578	796	28	2		2	AMOT	23	112058796	Silent	SNP	C	TCGA-VW-A7QS-01A-12D-A33T-08	2364060	112058796	43211764	61	38048											
PLEKHN1	84069	broad.mit.edu	37	1	905681	905681	+	Nonsense_Mutation	SNP	C	C	T			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr1:905681C>T	ENST00000379409.2	+	3	238	c.208C>T	c.(208-210)Cga>Tga	p.R70*	PLEKHN1_ENST00000379410.3_Nonsense_Mutation_p.R70*|PLEKHN1_ENST00000379407.3_Nonsense_Mutation_p.R70*			Q494U1	PKHN1_HUMAN	pleckstrin homology domain containing, family N member 1	70										central_nervous_system(1)|endometrium(3)|kidney(1)|lung(2)|skin(1)|urinary_tract(1)	9	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.00095)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)		GGAGAACCAGCGAGAAAACCT	0.617													11	25					0	0	1	0	0	T	905681	C	T	905681	4	4	504	1	0	0	0	0	0	1	0	0	12131	760	27	1	218	1	PLEKHN1	1	905681	Nonsense_Mutation	SNP	C	TCGA-VW-A8FI-01A-11D-A36O-08		905681	248344940	1	38049											
GABRD	2563	broad.mit.edu	37	1	1957053	1957053	+	Missense_Mutation	SNP	G	G	A			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr1:1957053G>A	ENST00000378585.4	+	4	429	c.346G>A	c.(346-348)Gtg>Atg	p.V116M		NM_000815.4	NP_000806.2	O14764	GBRD_HUMAN	gamma-aminobutyric acid (GABA) A receptor, delta	116						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			central_nervous_system(2)|endometrium(3)|kidney(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;2.7e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.17e-24)|GBM - Glioblastoma multiforme(42;9.56e-08)|Colorectal(212;4.12e-05)|COAD - Colon adenocarcinoma(227;0.000194)|Kidney(185;0.00231)|BRCA - Breast invasive adenocarcinoma(365;0.00441)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)		CAGCCGCTTCGTGGACAAGCT	0.617													28	40					0	0	1	0	0	A	1957053	G	A	1957053	3	1	504	1	0	0	0	0	1	0	0	0	6204	1145	40	1	360	1	GABRD	1	1957053	Missense_Mutation	SNP	G	TCGA-VW-A8FI-01A-11D-A36O-08	1051372	1957053	247293568	2	38050											
ASAP3	55616	broad.mit.edu	37	1	23758408	23758408	+	Missense_Mutation	SNP	C	C	T			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr1:23758408C>T	ENST00000336689.3	-	23	2371	c.2327G>A	c.(2326-2328)cGt>cAt	p.R776H	ASAP3_ENST00000437606.2_Missense_Mutation_p.R767H|ASAP3_ENST00000495646.1_Missense_Mutation_p.R280H	NM_017707.3	NP_060177.2	Q8TDY4	ASAP3_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 3	776					regulation of ARF GTPase activity	cytoplasm	ARF GTPase activator activity|zinc ion binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	24						GACTTCAGAACGATCTGGAAT	0.502													10	21					0	0	1	0	0	T	23758408	C	T	23758408	3	4	504	1	0	0	0	0	1	0	0	0	1011	536	19	1	396	1	ASAP3	1	23758408	Missense_Mutation	SNP	C	TCGA-VW-A8FI-01A-11D-A36O-08	21801355	23758408	225492213	3	38051											
USP24	23358	broad.mit.edu	37	1	55563343	55563343	+	Silent	SNP	C	C	T			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr1:55563343C>T	ENST00000294383.6	-	48	5642	c.5643G>A	c.(5641-5643)ttG>ttA	p.L1881L	USP24_ENST00000407756.1_Silent_p.L1721L	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN	ubiquitin specific peptidase 24	1881					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						GGTGAATTACCAAGACGCTAG	0.338													7	9					0	0	1	0	0	T	55563343	C	T	55563343	2	4	504	1	0	0	0	0	0	0	0	1	17115	593	21	2		2	USP24	1	55563343	Silent	SNP	C	TCGA-VW-A8FI-01A-11D-A36O-08	31804935	55563343	193687278	4	38052											
SORT1	6272	broad.mit.edu	37	1	109883360	109883360	+	Missense_Mutation	SNP	C	C	T			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr1:109883360C>T	ENST00000256637.6	-	10	1308	c.1250G>A	c.(1249-1251)aGc>aAc	p.S417N	SORT1_ENST00000538502.1_Missense_Mutation_p.S280N	NM_002959.5	NP_002950.3	Q99523	SORT_HUMAN	sortilin 1	417					endocytosis|endosome to lysosome transport|endosome transport via multivesicular body sorting pathway|glucose import|Golgi to endosome transport|induction of apoptosis by extracellular signals|myotube differentiation|negative regulation of apoptosis|negative regulation of lipoprotein lipase activity|neuropeptide signaling pathway|ossification|plasma membrane to endosome transport|regulation of gene expression|response to insulin stimulus|vesicle organization	cell surface|coated pit|early endosome|endoplasmic reticulum membrane|endosome membrane|Golgi cisterna membrane|integral to membrane|lysosomal membrane|microsome|nuclear membrane|perinuclear region of cytoplasm|plasma membrane	enzyme binding|nerve growth factor binding|nerve growth factor receptor activity|neurotensin receptor activity, non-G-protein coupled			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|prostate(1)|skin(1)	26		all_epithelial(167;4.69e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0529)|Colorectal(144;0.142)|Epithelial(280;0.145)|Kidney(133;0.169)|all cancers(265;0.184)		GGAGAGCACGCTTGTTATGTA	0.537													21	23					0	0	1	0	0	T	109883360	C	T	109883360	3	4	504	1	0	0	0	0	1	0	0	0	14989	797	28	2	1289	2	SORT1	1	109883360	Missense_Mutation	SNP	C	TCGA-VW-A8FI-01A-11D-A36O-08	54320017	109883360	139367261	5	38053											
FCER1A	2205	broad.mit.edu	37	1	159275806	159275806	+	Missense_Mutation	SNP	G	G	T			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr1:159275806G>T	ENST00000368115.1	+	5	459	c.360G>T	c.(358-360)gaG>gaT	p.E120D	FCER1A_ENST00000368114.1_Missense_Mutation_p.E87D	NM_002001.3	NP_001992.1	P12319	FCERA_HUMAN	Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide	120	Ig-like 2.					integral to plasma membrane				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(19)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_hematologic(112;0.0429)				Benzylpenicilloyl Polylysine(DB00895)|Omalizumab(DB00043)	CCTCTGCTGAGGTGGTGATGG	0.448													19	32					5.03518e-11	5.37463e-11	1	1	0	T	159275806	G	T	159275806	3	4	504	1	0	0	0	0	1	0	0	0	5807	991	35	4	374	4	FCER1A	1	159275806	Missense_Mutation	SNP	G	TCGA-VW-A8FI-01A-11D-A36O-08	49392446	159275806	89974815	6	38054											
APOA2	336	broad.mit.edu	37	1	161192119	161192119	+	Silent	SNP	A	A	G			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr1:161192119A>G	ENST00000594609.1	+	2	54	c.54A>G	c.(52-54)gtA>gtG	p.V18V	APOA2_ENST00000470459.2_3'UTR|APOA2_ENST00000367990.3_3'UTR|APOA2_ENST00000464492.1_3'UTR|APOA2_ENST00000463812.1_3'UTR|APOA2_ENST00000491350.1_3'UTR|APOA2_ENST00000468465.1_3'UTR																							AAGAGTGGGTAGGGACAGGAG	0.532													34	43					0	0	1	0	0	G	161192119	A	G	161192119	2	3	504	1	0	0	0	0	0	0	0	1	779	435	15	3		3	APOA2	1	161192119	Silent	SNP	A	TCGA-VW-A8FI-01A-11D-A36O-08	1916313	161192119	88058502	7	38055											
AMMECR1L	83607	broad.mit.edu	37	2	128628858	128628858	+	Silent	SNP	A	A	G			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr2:128628858A>G	ENST00000272647.5	-	4	743	c.483T>C	c.(481-483)aaT>aaC	p.N161N	AMMECR1L_ENST00000393001.1_Silent_p.N161N	NM_001199140.1	NP_001186069.1	Q6DCA0	AMERL_HUMAN	AMMECR1-like	161	AMMECR1.									central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)	9	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.07)		CTGAATGAAGATTCATGGCTG	0.448													21	25					0	0	1	0	0	G	128628858	A	G	128628858	2	3	504	1	0	0	0	0	0	0	0	1	575	330	12	3		3	AMMECR1L	2	128628858	Silent	SNP	A	TCGA-VW-A8FI-01A-11D-A36O-08		128628858	114570515	8	38056											
TTN	7273	broad.mit.edu	37	2	179489454	179489454	+	Silent	SNP	G	G	A			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr2:179489454G>A	ENST00000589042.1	-	242	44777	c.44553C>T	c.(44551-44553)ccC>ccT	p.P14851P	TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Silent_p.P12283P|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Silent_p.P13210P|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Silent_p.P5911P|TTN_ENST00000460472.2_Silent_p.P5786P|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Silent_p.P5978P|TTN-AS1_ENST00000589907.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	13210	Fibronectin type-III 7.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATTCAACTGGGGGTTCTGAAA	0.478													21	21					0	0	1	0	0	A	179489454	G	A	179489454	2	1	504	1	0	0	0	0	0	0	0	1	16797	1219	43	2		2	TTN	2	179489454	Silent	SNP	G	TCGA-VW-A8FI-01A-11D-A36O-08	50860596	179489454	63709919	9	38057											
TTN	7273	broad.mit.edu	37	2	179640529	179640529	+	Missense_Mutation	SNP	C	C	T	rs150884428		TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr2:179640529C>T	ENST00000589042.1	-	28	6286	c.6062G>A	c.(6061-6063)cGa>cAa	p.R2021Q	TTN_ENST00000342992.6_Missense_Mutation_p.R2021Q|TTN_ENST00000360870.5_Missense_Mutation_p.R2021Q|TTN_ENST00000591111.1_Missense_Mutation_p.R2021Q|TTN_ENST00000359218.5_Missense_Mutation_p.R1975Q|TTN_ENST00000460472.2_Missense_Mutation_p.R1975Q|TTN_ENST00000342175.6_Missense_Mutation_p.R1975Q	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	1783							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATCCTTCTTTCGAGACTTGAG	0.458													21	159					0	0	1	0	0	T	179640529	C	T	179640529	3	4	504	1	0	0	0	0	1	0	0	0	16797	884	31	1	105266	1	TTN	2	179640529	Missense_Mutation	SNP	C	TCGA-VW-A8FI-01A-11D-A36O-08	151075	179640529	63558844	10	38058											
ZDBF2	57683	broad.mit.edu	37	2	207170473	207170473	+	Silent	SNP	T	T	C			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr2:207170473T>C	ENST00000374423.3	+	5	1607	c.1221T>C	c.(1219-1221)agT>agC	p.S407S		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	407							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						CAGAAATGAGTTTTGATTGCA	0.403													29	33					0	0	1	0	0	C	207170473	T	C	207170473	2	2	504	1	0	0	0	0	0	0	0	1	17657	1722	60	3		3	ZDBF2	2	207170473	Silent	SNP	T	TCGA-VW-A8FI-01A-11D-A36O-08	27529944	207170473	36028900	11	38059											
SLC4A3	6508	broad.mit.edu	37	2	220497018	220497018	+	Missense_Mutation	SNP	G	G	A			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr2:220497018G>A	ENST00000358055.3	+	8	1507	c.995G>A	c.(994-996)cGc>cAc	p.R332H	SLC4A3_ENST00000373762.3_Missense_Mutation_p.R359H|SLC4A3_ENST00000373760.2_Missense_Mutation_p.R332H|SLC4A3_ENST00000273063.6_Missense_Mutation_p.R359H|SLC4A3_ENST00000497589.1_3'UTR|SLC4A3_ENST00000317151.3_Missense_Mutation_p.R332H			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3	332					bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ATGCTGGACCGCAGCCAGGAG	0.667													23	22					0	0	1	0	0	A	220497018	G	A	220497018	3	1	504	1	0	0	0	0	1	0	0	0	14710	1087	38	1	1102	1	SLC4A3	2	220497018	Missense_Mutation	SNP	G	TCGA-VW-A8FI-01A-11D-A36O-08	13326545	220497018	22702355	12	38060											
ATP2B2	491	broad.mit.edu	37	3	10417231	10417231	+	Silent	SNP	C	C	T			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr3:10417231C>T	ENST00000397077.1	-	10	1739	c.1164G>A	c.(1162-1164)acG>acA	p.T388T	ATP2B2_ENST00000360273.2_Silent_p.T433T|ATP2B2_ENST00000343816.4_Silent_p.T419T|ATP2B2_ENST00000352432.4_Silent_p.T433T|ATP2B2_ENST00000383800.4_Silent_p.T388T			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	433					ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						CGTAGACGGGCGTGCACTCAG	0.587													24	45					0	0	1	0	0	T	10417231	C	T	10417231	2	4	504	1	0	0	0	0	0	0	0	1	1139	755	27	1		1	ATP2B2	3	10417231	Silent	SNP	C	TCGA-VW-A8FI-01A-11D-A36O-08		10417231	187605199	13	38061											
DHX30	22907	broad.mit.edu	37	3	47887324	47887324	+	Missense_Mutation	SNP	A	A	G			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr3:47887324A>G	ENST00000446256.2	+	11	1529	c.957A>G	c.(955-957)atA>atG	p.I319M	DHX30_ENST00000348968.4_Missense_Mutation_p.I330M|DHX30_ENST00000445061.1_Missense_Mutation_p.I358M|DHX30_ENST00000457607.1_Missense_Mutation_p.I386M	NM_014966.3	NP_055781.2	Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 30	358						mitochondrial nucleoid	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		TCCGCAAGATAGAGACCTTCC	0.597													20	20					0	0	1	0	0	G	47887324	A	G	47887324	3	3	504	1	0	0	0	0	1	0	0	0	4532	410	15	3	1115	3	DHX30	3	47887324	Missense_Mutation	SNP	A	TCGA-VW-A8FI-01A-11D-A36O-08	37470093	47887324	150135106	14	38062											
ATXN7	6314	broad.mit.edu	37	3	63975932	63975932	+	Missense_Mutation	SNP	T	T	A			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr3:63975932T>A	ENST00000398590.3	+	10	1995	c.1442T>A	c.(1441-1443)cTg>cAg	p.L481Q	ATXN7_ENST00000487717.1_Missense_Mutation_p.L481Q|ATXN7_ENST00000538065.1_Missense_Mutation_p.L481Q|ATXN7_ENST00000295900.6_Missense_Mutation_p.L481Q|ATXN7_ENST00000484332.1_Missense_Mutation_p.L336Q	NM_001177387.1	NP_001170858.1	O15265	ATX7_HUMAN	ataxin 7	481	Pro-rich.				cell death|histone deubiquitination|nucleus organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nuclear matrix|nucleolus	protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|stomach(1)|urinary_tract(3)	35		Prostate(884;0.0181)		BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305)		CACCCTCCCCTGCCTGCCACT	0.552													19	22					0	0	1	0	0	A	63975932	T	A	63975932	3	1	504	1	0	0	0	0	1	0	0	0	1213	1580	55	5	1540	5	ATXN7	3	63975932	Missense_Mutation	SNP	T	TCGA-VW-A8FI-01A-11D-A36O-08	16088608	63975932	134046498	15	38063											
PDZRN3	23024	broad.mit.edu	37	3	73432601	73432601	+	Missense_Mutation	SNP	G	G	A			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr3:73432601G>A	ENST00000263666.4	-	10	3230	c.3116C>T	c.(3115-3117)aCg>aTg	p.T1039M	PDZRN3_ENST00000462146.2_Missense_Mutation_p.T696M|PDZRN3_ENST00000466780.1_Missense_Mutation_p.T696M|PDZRN3_ENST00000479530.1_Missense_Mutation_p.T756M|PDZRN3_ENST00000535920.1_Missense_Mutation_p.T761M	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	1039							ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		TTCTTGGATCGTCATCCAGTT	0.433													4	204					0	0	1	0	0	A	73432601	G	A	73432601	3	1	504	1	0	0	0	0	1	0	0	0	11756	1145	40	1	88	1	PDZRN3	3	73432601	Missense_Mutation	SNP	G	TCGA-VW-A8FI-01A-11D-A36O-08	9456669	73432601	124589829	16	38064											
PIK3CA	5290	broad.mit.edu	37	3	178952084	178952084	+	Missense_Mutation	SNP	C	C	T	rs121913281		TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr3:178952084C>T	ENST00000263967.3	+	21	3296	c.3139C>T	c.(3139-3141)Cat>Tat	p.H1047Y		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1047	PI3K/PI4K.		H -> L (in cancer).|H -> R (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane).|H -> Y (in cancer).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.H1047Y(37)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			GAATGATGCACATCATGGTGG	0.373	H1047Y(MFE280_ENDOMETRIUM)|H1047Y(TOV21G_OVARY)	57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			22	31					0	0	1	0	0	T	178952084	C	T	178952084	3	4	504	1	0	0	0	0	1	0	0	0	11961	478	17	2	3217	2	PIK3CA	3	178952084	Missense_Mutation	SNP	C	TCGA-VW-A8FI-01A-11D-A36O-08	105519483	178952084	19070346	17	38065											
TEC	7006	broad.mit.edu	37	4	48139472	48139472	+	Missense_Mutation	SNP	T	T	C			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr4:48139472T>C	ENST00000381501.3	-	18	2014	c.1857A>G	c.(1855-1857)atA>atG	p.I619M		NM_003215.2	NP_003206.2	P42680	TEC_HUMAN	tec protein tyrosine kinase	619	Protein kinase.				intracellular protein kinase cascade	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31						CTAGTTCATCTATTGTGCGCA	0.443													11	26					0	0	1	0	0	C	48139472	T	C	48139472	3	2	504	1	0	0	0	0	1	0	0	0	15801	1512	53	3	42	3	TEC	4	48139472	Missense_Mutation	SNP	T	TCGA-VW-A8FI-01A-11D-A36O-08		48139472	143014804	18	38066											
NAA11	84779	broad.mit.edu	37	4	80246628	80246628	+	Missense_Mutation	SNP	G	G	A			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr4:80246628G>A	ENST00000286794.4	-	1	576	c.404C>T	c.(403-405)cCt>cTt	p.P135L		NM_032693.2	NP_116082.1	Q9BSU3	NAA11_HUMAN	N(alpha)-acetyltransferase 11, NatA catalytic subunit	135	N-acetyltransferase.					cytoplasm|nucleus	peptide alpha-N-acetyltransferase activity|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|skin(2)	23						ATAGTATTTAGGTTCCACCTC	0.488													22	42					0	0	1	0	0	A	80246628	G	A	80246628	3	1	504	1	0	0	0	0	1	0	0	0	10165	1000	35	2	289	2	NAA11	4	80246628	Missense_Mutation	SNP	G	TCGA-VW-A8FI-01A-11D-A36O-08	32107156	80246628	110907648	19	38067											
NKD2	85409	broad.mit.edu	37	5	1038429	1038431	+	In_Frame_Del	DEL	CAC	CAC	-			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr5:1038429_1038431delCAC	ENST00000296849.5	+	10	1526_1528	c.1297_1299delCAC	c.(1297-1299)cacdel	p.H437del	NKD2_ENST00000382730.2_In_Frame_Del_p.P76del|NKD2_ENST00000274150.4_3'UTR	NM_033120.3	NP_149111.1	Q969F2	NKD2_HUMAN	naked cuticle homolog 2 (Drosophila)	437	His-rich.				exocytosis|Wnt receptor signaling pathway	cytoplasmic membrane-bounded vesicle|plasma membrane	calcium ion binding|ubiquitin protein ligase binding			breast(1)|central_nervous_system(3)|large_intestine(1)|lung(8)|pancreas(1)	14	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;3.28e-09)		Epithelial(17;0.00093)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00417)|Lung(60;0.165)			GCGGCACGAGcaccaccaccacc	0.685													2	4	---	---	---	---						-	1038431	CAC	-	1038429	7	5	504	1	0	1	0	1	0	0	0	0	10489	710	25	0	1335	0	NKD2	5	1038429	In_Frame_Del	DEL	CAC	TCGA-VW-A8FI-01A-11D-A36O-08		1038429	179876831	20	38068											
NUP155	9631	broad.mit.edu	37	5	37293066	37293066	+	Missense_Mutation	SNP	T	T	G			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr5:37293066T>G	ENST00000231498.3	-	34	4155	c.3952A>C	c.(3952-3954)Aag>Cag	p.K1318Q	NUP155_ENST00000502533.1_5'UTR|NUP155_ENST00000381843.2_Missense_Mutation_p.K1259Q|NUP155_ENST00000513532.1_Missense_Mutation_p.K1254Q	NM_153485.1	NP_705618.1	O75694	NU155_HUMAN	nucleoporin 155kDa	1318					carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore	protein binding|structural constituent of nuclear pore|transporter activity			endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	62	all_lung(31;0.000137)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AGTGGCTTCTTCATTCTGTTC	0.299													10	101					0	0	1	0	0	G	37293066	T	G	37293066	3	3	504	1	0	0	0	0	1	0	0	0	10804	1792	62	5	231	5	NUP155	5	37293066	Missense_Mutation	SNP	T	TCGA-VW-A8FI-01A-11D-A36O-08	36254637	37293066	143622194	21	38069											
PCDHA5	56143	broad.mit.edu	37	5	140203424	140203424	+	Silent	SNP	C	C	T			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr5:140203424C>T	ENST00000529859.1	+	1	2064	c.2064C>T	c.(2062-2064)ccC>ccT	p.P688P	PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Silent_p.P688P|PCDHA5_ENST00000378126.3_Silent_p.P688P|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018908.2	NP_061731.1														NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGTGGGTCCCGAGGCTGCCC	0.677													29	86					0	0	1	0	0	T	140203424	C	T	140203424	2	4	504	1	0	0	0	0	0	0	0	1	11574	639	23	1		1	PCDHA5	5	140203424	Silent	SNP	C	TCGA-VW-A8FI-01A-11D-A36O-08	102910358	140203424	40711836	22	38070											
BTN3A2	11118	broad.mit.edu	37	6	26370798	26370798	+	Missense_Mutation	SNP	G	G	A			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr6:26370798G>A	ENST00000356386.2	+	5	870	c.682G>A	c.(682-684)Ggc>Agc	p.G228S	BTN3A2_ENST00000377708.2_Missense_Mutation_p.G228S|BTN3A2_ENST00000396948.1_Missense_Mutation_p.G228S|BTN3A2_ENST00000532994.1_3'UTR|BTN3A2_ENST00000396934.3_Missense_Mutation_p.G205S|BTN3A2_ENST00000527422.1_Missense_Mutation_p.G228S|BTN3A2_ENST00000508906.2_Missense_Mutation_p.G186S	NM_001197246.2|NM_001197247.1|NM_007047.3	NP_001184175.1|NP_001184176.1|NP_008978.2	P78410	BT3A2_HUMAN	butyrophilin, subfamily 3, member A2	228						integral to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)	10						TTCCCTCCTCGGCCTGGAAAA	0.537													6	86					0	0	1	0	0	A	26370798	G	A	26370798	3	1	504	1	0	0	0	0	1	0	0	0	1566	1116	39	1	692	1	BTN3A2	6	26370798	Missense_Mutation	SNP	G	TCGA-VW-A8FI-01A-11D-A36O-08		26370798	144744269	23	38071											
SPDEF	25803	broad.mit.edu	37	6	34511928	34511928	+	Missense_Mutation	SNP	G	G	A			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr6:34511928G>A	ENST00000374037.3	-	2	719	c.305C>T	c.(304-306)gCg>gTg	p.A102V	SPDEF_ENST00000544425.1_Missense_Mutation_p.A102V	NM_012391.2	NP_036523.1	O95238	SPDEF_HUMAN	SAM pointed domain containing ETS transcription factor	102					negative regulation of survival gene product expression|negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)	15						CAGGCTGCCCGCTGGGGCTTG	0.677													16	16					0	0	1	0	0	A	34511928	G	A	34511928	3	1	504	1	0	0	0	0	1	0	0	0	15082	1087	38	1	722	1	SPDEF	6	34511928	Missense_Mutation	SNP	G	TCGA-VW-A8FI-01A-11D-A36O-08	8141130	34511928	136603139	24	38072											
DEFB112	245915	broad.mit.edu	37	6	50011490	50011490	+	Missense_Mutation	SNP	G	G	A			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr6:50011490G>A	ENST00000322246.4	-	2	139	c.140C>T	c.(139-141)aCc>aTc	p.T47I		NM_001037498.1	NP_001032587.1	Q30KQ8	DB112_HUMAN	defensin, beta 112	47					defense response to bacterium	extracellular region				central_nervous_system(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	19	Lung NSC(77;0.042)					CCTACTAAAGGTGATATGGTG	0.408													5	72					0	0	1	0	0	A	50011490	G	A	50011490	3	1	504	1	0	0	0	0	1	0	0	0	4428	1261	44	2	204	2	DEFB112	6	50011490	Missense_Mutation	SNP	G	TCGA-VW-A8FI-01A-11D-A36O-08	15499562	50011490	121103577	25	38073											
FAM135A	57579	broad.mit.edu	37	6	71234964	71234964	+	Missense_Mutation	SNP	G	G	A			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr6:71234964G>A	ENST00000418814.2	+	15	2791	c.2177G>A	c.(2176-2178)gGa>gAa	p.G726E	FAM135A_ENST00000361499.3_Missense_Mutation_p.G530E|FAM135A_ENST00000457062.2_Missense_Mutation_p.G513E|FAM135A_ENST00000505868.1_Missense_Mutation_p.G726E|FAM135A_ENST00000370479.3_Missense_Mutation_p.G513E|FAM135A_ENST00000505769.1_Intron	NM_001105531.2|NM_001162529.1	NP_001099001.1|NP_001156001.1	Q9P2D6	F135A_HUMAN	family with sequence similarity 135, member A	726										breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38						CTTTCTATTGGAGAATCATTA	0.318													6	53					0	0	1	0	0	A	71234964	G	A	71234964	3	1	504	1	0	0	0	0	1	0	0	0	5479	1174	41	2	2305	2	FAM135A	6	71234964	Missense_Mutation	SNP	G	TCGA-VW-A8FI-01A-11D-A36O-08	21223474	71234964	99880103	26	38074											
THSD7A	221981	broad.mit.edu	37	7	11521486	11521486	+	Missense_Mutation	SNP	G	G	T			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr7:11521486G>T	ENST00000423059.4	-	7	2197	c.1946C>A	c.(1945-1947)aCc>aAc	p.T649N	AC004538.3_ENST00000445839.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A		TSP type-1 6.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		CCCTGAGCAGGTGTGTGAGCA	0.562										HNSCC(18;0.044)			5	108					1.23904e-05	1.25222e-05	1	1	0	T	11521486	G	T	11521486	3	4	504	1	0	0	0	0	1	0	0	0	15939	1261	44	5	3111	5	THSD7A	7	11521486	Missense_Mutation	SNP	G	TCGA-VW-A8FI-01A-11D-A36O-08		11521486	147617177	27	38075											
MPP6	51678	broad.mit.edu	37	7	24720070	24720070	+	Silent	SNP	G	G	A	rs139735308		TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr7:24720070G>A	ENST00000222644.5	+	11	1627	c.1377G>A	c.(1375-1377)ccG>ccA	p.P459P	MPP6_ENST00000409761.1_Silent_p.P347P|MPP6_ENST00000396475.2_Silent_p.P459P			Q9NZW5	MPP6_HUMAN	membrane protein, palmitoylated 6 (MAGUK p55 subfamily member 6)		Guanylate kinase-like.				protein complex assembly		protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|skin(2)	20						TTGCGGCTCCGGAGCTAGAGA	0.413													49	118					0	0	1	0	0	A	24720070	G	A	24720070	2	1	504	1	0	0	0	0	0	0	0	1	9787	1103	39	1		1	MPP6	7	24720070	Silent	SNP	G	TCGA-VW-A8FI-01A-11D-A36O-08	13198584	24720070	134418593	28	38076											
URGCP	55665	broad.mit.edu	37	7	43916839	43916839	+	Silent	SNP	C	C	T			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr7:43916839C>T	ENST00000336086.6	-	4	4330	c.2094G>A	c.(2092-2094)caG>caA	p.Q698Q	URGCP_ENST00000447717.3_Silent_p.Q698Q|URGCP_ENST00000453200.1_Silent_p.Q741Q|URGCP_ENST00000443736.1_Silent_p.Q698Q|URGCP-MRPS24_ENST00000603700.1_Intron|URGCP_ENST00000223341.7_Silent_p.Q698Q|URGCP_ENST00000402306.3_Silent_p.Q732Q|URGCP_ENST00000497914.1_5'UTR			Q8TCY9	URGCP_HUMAN	upregulator of cell proliferation	741					cell cycle	centrosome|nucleus	GTP binding			breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|liver(1)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						AGCCCAGGTCCTGGCTGAAGC	0.602													21	54					0	0	1	0	0	T	43916839	C	T	43916839	2	4	504	1	0	0	0	0	0	0	0	1	17086	680	24	2		2	URGCP	7	43916839	Silent	SNP	C	TCGA-VW-A8FI-01A-11D-A36O-08	19196769	43916839	115221824	29	38077											
PCLO	27445	broad.mit.edu	37	7	82545708	82545708	+	Missense_Mutation	SNP	C	C	T			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr7:82545708C>T	ENST00000333891.9	-	7	11931	c.11594G>A	c.(11593-11595)aGc>aAc	p.S3865N	PCLO_ENST00000423517.2_Missense_Mutation_p.S3865N|PCLO_ENST00000437081.1_Missense_Mutation_p.S585N	NM_033026.5	NP_149015.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein		Gln-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TATAAACTGGCTGAATTCAGT	0.463													104	272					0	0	1	0	0	T	82545708	C	T	82545708	3	4	504	1	0	0	0	0	1	0	0	0	11630	797	28	2	3927	2	PCLO	7	82545708	Missense_Mutation	SNP	C	TCGA-VW-A8FI-01A-11D-A36O-08	38628869	82545708	76592955	30	38078											
OR2A25	392138	broad.mit.edu	37	7	143771612	143771612	+	Missense_Mutation	SNP	G	G	A			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr7:143771612G>A	ENST00000408898.2	+	1	338	c.300G>A	c.(298-300)atG>atA	p.M100I		NM_001004488.1	NP_001004488.1	A4D2G3	O2A25_HUMAN	olfactory receptor, family 2, subfamily A, member 25	100					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	24	Melanoma(164;0.0783)					TGACCCAGATGTTTCTGTTTT	0.537													44	81					0	0	1	0	0	A	143771612	G	A	143771612	3	1	504	1	0	0	0	0	1	0	0	0	11026	1377	48	2	302	2	OR2A25	7	143771612	Missense_Mutation	SNP	G	TCGA-VW-A8FI-01A-11D-A36O-08	61225904	143771612	15367051	31	38079											
RP1L1	94137	broad.mit.edu	37	8	10469466	10469466	+	Silent	SNP	C	C	T			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr8:10469466C>T	ENST00000382483.3	-	4	2365	c.2142G>A	c.(2140-2142)caG>caA	p.Q714Q		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	714					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		TCCCAGAGGCCTGTGTCCTGG	0.612													20	28					0	0	1	0	0	T	10469466	C	T	10469466	2	4	504	1	0	0	0	0	0	0	0	1	13585	680	24	2		2	RP1L1	8	10469466	Silent	SNP	C	TCGA-VW-A8FI-01A-11D-A36O-08		10469466	135894556	32	38080											
GSDMC	56169	broad.mit.edu	37	8	130789815	130789815	+	Missense_Mutation	SNP	G	G	A			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr8:130789815G>A	ENST00000276708.4	-	2	900	c.19C>T	c.(19-21)Cgc>Tgc	p.R7C		NM_031415.2	NP_113603.1	Q9BYG8	GSDMC_HUMAN	gasdermin C	7						mitochondrion				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	26						TTGCTAATGCGTTCCAACATG	0.408													28	47					0	0	1	0	0	A	130789815	G	A	130789815	3	1	504	1	0	0	0	0	1	0	0	0	6859	1145	40	1	1559	1	GSDMC	8	130789815	Missense_Mutation	SNP	G	TCGA-VW-A8FI-01A-11D-A36O-08	120320349	130789815	15574207	33	38081											
CDC14B	8555	broad.mit.edu	37	9	99284801	99284801	+	Missense_Mutation	SNP	C	C	T			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr9:99284801C>T	ENST00000375241.1	-	12	1781	c.1330G>A	c.(1330-1332)Gct>Act	p.A444T	CDC14B_ENST00000375236.1_Missense_Mutation_p.A444T|CDC14B_ENST00000481149.1_5'UTR|CDC14B_ENST00000375240.3_Missense_Mutation_p.A444T|CDC14B_ENST00000375242.3_Missense_Mutation_p.A407T|CDC14B_ENST00000265659.2_Missense_Mutation_p.A444T|CDC14B_ENST00000463569.1_Missense_Mutation_p.A444T	NM_003671.3|NM_033331.2	NP_003662.1|NP_201588.1	O60729	CC14B_HUMAN	cell division cycle 14B	444					activation of anaphase-promoting complex activity|DNA repair|G2/M transition DNA damage checkpoint	nucleolus|nucleoplasm	protein binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)	15		Acute lymphoblastic leukemia(62;0.0559)				AGAGGAATAGCGTTTGTTTTG	0.423													28	41					0	0	1	0	0	T	99284801	C	T	99284801	3	4	504	1	0	0	0	0	1	0	0	0	3079	768	27	1	178	1	CDC14B	9	99284801	Missense_Mutation	SNP	C	TCGA-VW-A8FI-01A-11D-A36O-08		99284801	41928630	34	38082											
SURF2	6835	broad.mit.edu	37	9	136227975	136227975	+	Missense_Mutation	SNP	G	G	A			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr9:136227975G>A	ENST00000371964.4	+	6	772	c.731G>A	c.(730-732)cGc>cAc	p.R244H		NM_017503.3	NP_059973.4	Q15527	SURF2_HUMAN	surfeit 2	244							protein binding			breast(1)|large_intestine(1)|lung(4)	6				OV - Ovarian serous cystadenocarcinoma(145;4.87e-07)|Epithelial(140;4.02e-06)|all cancers(34;3.71e-05)		AGTCATCACCGCAAACCCAAG	0.463													4	185					0	0	1	0	0	A	136227975	G	A	136227975	3	1	504	1	0	0	0	0	1	0	0	0	15460	1087	38	1	753	1	SURF2	9	136227975	Missense_Mutation	SNP	G	TCGA-VW-A8FI-01A-11D-A36O-08	36943174	136227975	4985456	35	38083											
CUBN	8029	broad.mit.edu	37	10	16957131	16957131	+	Missense_Mutation	SNP	G	G	T			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr10:16957131G>T	ENST00000377833.4	-	47	7316	c.7251C>A	c.(7249-7251)gaC>gaA	p.D2417E		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	2417	CUB 17.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TGTCTATGCTGTCAGGAATGG	0.428													31	11					2.47316e-13	2.70057e-13	1	1	0	T	16957131	G	T	16957131	3	4	504	1	0	0	0	0	1	0	0	0	4074	1368	48	5	3704	5	CUBN	10	16957131	Missense_Mutation	SNP	G	TCGA-VW-A8FI-01A-11D-A36O-08		16957131	118577616	36	38084											
NEBL	10529	broad.mit.edu	37	10	21462709	21462709	+	Silent	SNP	G	G	A			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr10:21462709G>A	ENST00000417816.2	-	1	407	c.54C>T	c.(52-54)gtC>gtT	p.V18V	NEBL_ENST00000464278.1_5'UTR	NM_001173484.1|NM_213569.2	NP_001166955.1|NP_998734.1	O76041	NEBL_HUMAN	nebulette	0					regulation of actin filament length		actin binding|structural constituent of muscle			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						CCAGGCAGTTGACTTTCTCGG	0.677													15	13					0	0	1	0	0	A	21462709	G	A	21462709	2	1	504	1	0	0	0	0	0	0	0	1	10350	1277	45	2		2	NEBL	10	21462709	Silent	SNP	G	TCGA-VW-A8FI-01A-11D-A36O-08	4505578	21462709	114072038	37	38085											
CRTAC1	55118	broad.mit.edu	37	10	99640052	99640052	+	Missense_Mutation	SNP	C	C	T			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr10:99640052C>T	ENST00000298819.4	-	13	2085	c.1730G>A	c.(1729-1731)aGt>aAt	p.S577N	CRTAC1_ENST00000370597.3_Silent_p.K591K|CRTAC1_ENST00000370591.2_Silent_p.K591K			Q9NQ79	CRAC1_HUMAN	cartilage acidic protein 1	0	EGF-like.					proteinaceous extracellular matrix	calcium ion binding			autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(6)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	35		Colorectal(252;0.24)		Epithelial(162;2.18e-10)|all cancers(201;3.27e-09)		CCCGACTGCACTTCTTGTTGG	0.572													34	18					0	0	1	0	0	T	99640052	C	T	99640052	3	4	504	1	0	0	0	0	1	0	0	0	3919	564	20	2	220	2	CRTAC1	10	99640052	Missense_Mutation	SNP	C	TCGA-VW-A8FI-01A-11D-A36O-08	78177343	99640052	35894695	38	38086											
C10orf76	79591	broad.mit.edu	37	10	103753315	103753315	+	Nonsense_Mutation	SNP	G	G	A			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr10:103753315G>A	ENST00000370033.4	-	17	1374	c.1255C>T	c.(1255-1257)Cga>Tga	p.R419*		NM_024541.2	NP_078817.2	Q5T2E6	CJ076_HUMAN	chromosome 10 open reading frame 76	419						integral to membrane				autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|upper_aerodigestive_tract(2)	24		Colorectal(252;0.123)		Epithelial(162;2.41e-08)|all cancers(201;6.41e-07)		AAGTTTACTCGAAAATTCATG	0.313													17	11					0	0	1	0	0	A	103753315	G	A	103753315	4	1	504	1	0	0	0	0	0	1	0	0	1620	1066	37	1	854	1	C10orf76	10	103753315	Nonsense_Mutation	SNP	G	TCGA-VW-A8FI-01A-11D-A36O-08	4113263	103753315	31781432	39	38087											
TRPM5	29850	broad.mit.edu	37	11	2432644	2432644	+	Missense_Mutation	SNP	C	C	T			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr11:2432644C>T	ENST00000452833.1	-	18	2734	c.2726G>A	c.(2725-2727)cGc>cAc	p.R909H	TRPM5_ENST00000528453.1_Missense_Mutation_p.R907H|TRPM5_ENST00000155858.6_Missense_Mutation_p.R907H|TRPM5_ENST00000533060.1_Missense_Mutation_p.R907H			Q9NZQ8	TRPM5_HUMAN	transient receptor potential cation channel, subfamily M, member 5	907						integral to membrane|plasma membrane	receptor activity|voltage-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(4)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	23		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)		GAGCACCCGGCGGAAGATCCA	0.627													4	40					0	0	1	0	0	T	2432644	C	T	2432644	3	4	504	1	0	0	0	0	1	0	0	0	16650	768	27	1	805	1	TRPM5	11	2432644	Missense_Mutation	SNP	C	TCGA-VW-A8FI-01A-11D-A36O-08		2432644	132573872	40	38088											
MRGPRE	116534	broad.mit.edu	37	11	3249242	3249242	+	Missense_Mutation	SNP	G	G	A			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr11:3249242G>A	ENST00000389832.5	-	2	1094	c.788C>T	c.(787-789)gCg>gTg	p.A263V	MRGPRE_ENST00000436689.2_Missense_Mutation_p.A262V|AC109309.4_ENST00000418995.2_RNA			Q86SM8	MRGRE_HUMAN	MAS-related GPR, member E	262						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	19		Medulloblastoma(188;0.00106)|all_epithelial(84;0.00111)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00529)|LUSC - Lung squamous cell carcinoma(625;0.19)		GGGCTTGGCCGCGCAGTGCAC	0.672													6	9					0	0	1	0	0	A	3249242	G	A	3249242	3	1	504	1	0	0	0	0	1	0	0	0	9813	1087	38	1	154	1	MRGPRE	11	3249242	Missense_Mutation	SNP	G	TCGA-VW-A8FI-01A-11D-A36O-08	816598	3249242	131757274	41	38089											
TRIM5	85363	broad.mit.edu	37	11	5686810	5686810	+	Missense_Mutation	SNP	C	C	A			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr11:5686810C>A	ENST00000396847.3	-	7	1206	c.971G>T	c.(970-972)tGt>tTt	p.C324F	TRIM5_ENST00000396853.4_Intron|TRIM5_ENST00000305836.5_Intron|TRIM5_ENST00000380027.1_Intron|TRIM5_ENST00000380034.3_Intron|TRIM5_ENST00000396855.3_Intron|TRIM5_ENST00000483835.1_Intron			Q9C035	TRIM5_HUMAN	tripartite motif containing 5	0	B30.2/SPRY.				interspecies interaction between organisms|protein trimerization|response to virus	cytoplasm|cytoplasmic mRNA processing body	ligase activity|protein binding|protein homodimerization activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)|Lung NSC(207;0.138)|all_lung(207;0.221)		Epithelial(150;7.21e-09)|BRCA - Breast invasive adenocarcinoma(625;0.139)		TAATAGAGAACATAAAATTCT	0.373											OREG0003727	type=REGULATORY REGION|Gene=AK074363|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	20	43					2.94398e-08	3.10754e-08	1	1	0	A	5686810	C	A	5686810	3	1	504	1	0	0	0	0	1	0	0	0	16586	478	17	5	757	5	TRIM5	11	5686810	Missense_Mutation	SNP	C	TCGA-VW-A8FI-01A-11D-A36O-08	2437568	5686810	129319706	42	38090											
OR4D9	390199	broad.mit.edu	37	11	59283161	59283161	+	Missense_Mutation	SNP	C	C	T			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr11:59283161C>T	ENST00000329328.3	+	1	776	c.776C>T	c.(775-777)gCc>gTc	p.A259V		NM_001004711.1	NP_001004711.1	Q8NGE8	OR4D9_HUMAN	olfactory receptor, family 4, subfamily D, member 9	259					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|prostate(5)|upper_aerodigestive_tract(1)	26						TATGTCTATGCCCGGCCCTTC	0.552													88	104					0	0	1	0	0	T	59283161	C	T	59283161	3	4	504	1	0	0	0	0	1	0	0	0	11107	739	26	2	778	2	OR4D9	11	59283161	Missense_Mutation	SNP	C	TCGA-VW-A8FI-01A-11D-A36O-08	53596351	59283161	75723355	43	38091											
GYS2	2998	broad.mit.edu	37	12	21728850	21728850	+	Missense_Mutation	SNP	C	C	T			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr12:21728850C>T	ENST00000261195.2	-	3	699	c.445G>A	c.(445-447)Gcc>Acc	p.A149T		NM_021957.3	NP_068776.2	P54840	GYS2_HUMAN	glycogen synthase 2 (liver)	149					glucose metabolic process|glycogen biosynthetic process|response to glucose stimulus	cortical actin cytoskeleton|cytosol|ectoplasm|insoluble fraction|soluble fraction	glycogen (starch) synthase activity|protein homodimerization activity			NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(14)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						ATATCATTGGCTTCTCGGTCA	0.438													45	51					0	0	1	0	0	T	21728850	C	T	21728850	3	4	504	1	0	0	0	0	1	0	0	0	6954	797	28	2	1722	2	GYS2	12	21728850	Missense_Mutation	SNP	C	TCGA-VW-A8FI-01A-11D-A36O-08		21728850	112123045	44	38092											
HDAC7	51564	broad.mit.edu	37	12	48196010	48196010	+	Missense_Mutation	SNP	C	C	T			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr12:48196010C>T	ENST00000080059.7	-	2	66	c.67G>A	c.(67-69)Gca>Aca	p.A23T	HDAC7_ENST00000427332.2_5'UTR|HDAC7_ENST00000354334.3_Missense_Mutation_p.A23T|HDAC7_ENST00000380610.4_Missense_Mutation_p.A40T|HDAC7_ENST00000552960.1_Intron	NM_015401.3	NP_056216.2	Q8WUI4	HDAC7_HUMAN	histone deacetylase 7	207	Interaction with MEF2C (By similarity).|Transcription repression 1 (By similarity).				negative regulation of interleukin-2 production|negative regulation of osteoblast differentiation|positive regulation of cell migration involved in sprouting angiogenesis|transcription, DNA-dependent	cytoplasm|histone deacetylase complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein kinase C binding|repressing transcription factor binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25				GBM - Glioblastoma multiforme(48;0.137)		CTCTTACCTGCGCCAGTGGGG	0.602											OREG0021756	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	18					0	0	1	0	0	T	48196010	C	T	48196010	3	4	504	1	0	0	0	0	1	0	0	0	7053	768	27	1	3008	1	HDAC7	12	48196010	Missense_Mutation	SNP	C	TCGA-VW-A8FI-01A-11D-A36O-08	26467160	48196010	85655885	45	38093											
MYF6	4618	broad.mit.edu	37	12	81101548	81101548	+	Missense_Mutation	SNP	G	G	C			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr12:81101548G>C	ENST00000228641.3	+	1	272	c.50G>C	c.(49-51)gGg>gCg	p.G17A		NM_002469.2	NP_002460.1	P23409	MYF6_HUMAN	myogenic factor 6 (herculin)	17					muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|skin(1)	26						TACTTGGATGGGGAAAATGTT	0.498													18	51					0	0	1	0	0	C	81101548	G	C	81101548	3	2	504	1	0	0	0	0	1	0	0	0	10076	1232	43	5	52	5	MYF6	12	81101548	Missense_Mutation	SNP	G	TCGA-VW-A8FI-01A-11D-A36O-08	32905538	81101548	52750347	46	38094											
CHST11	50515	broad.mit.edu	37	12	105151445	105151445	+	Missense_Mutation	SNP	C	C	T			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr12:105151445C>T	ENST00000303694.5	+	3	1362	c.923C>T	c.(922-924)aCg>aTg	p.T308M	CHST11_ENST00000549260.1_Missense_Mutation_p.T303M	NM_018413.5	NP_060883.1	Q9NPF2	CHSTB_HUMAN	carbohydrate (chondroitin 4) sulfotransferase 11	308					chondroitin sulfate biosynthetic process	Golgi membrane|integral to membrane	chondroitin 4-sulfotransferase activity|N-acetylgalactosamine 4-O-sulfotransferase activity			breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(1)	18						GCAAAGTCTACGAGAACTACT	0.473													14	22					0	0	1	0	0	T	105151445	C	T	105151445	3	4	504	1	0	0	0	0	1	0	0	0	3421	536	19	1	933	1	CHST11	12	105151445	Missense_Mutation	SNP	C	TCGA-VW-A8FI-01A-11D-A36O-08	24049897	105151445	28700450	47	38095											
PTPN11	5781	broad.mit.edu	37	12	112888199	112888199	+	Missense_Mutation	SNP	C	C	A	rs121918454		TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr12:112888199C>A	ENST00000351677.2	+	3	413	c.215C>A	c.(214-216)gCc>gAc	p.A72D	PTPN11_ENST00000392597.1_Missense_Mutation_p.A72D	NM_002834.3	NP_002825.3	Q06124	PTN11_HUMAN	protein tyrosine phosphatase, non-receptor type 11	72	SH2 1.		A -> G (in NS1).|A -> S (in NS1).|A -> T (in JMML).|A -> V (in JMML).		axon guidance|cell junction assembly|ephrin receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|platelet activation|regulation of cell adhesion mediated by integrin|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway	cytosol	non-membrane spanning protein tyrosine phosphatase activity|protein binding	p.A72V(35)|p.A72D(3)		NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(406)|kidney(2)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(3)|stomach(3)	451						GAGAAATTTGCCACTTTGGCT	0.418			Mis		"JMML, AML, MDS"		Noonan Syndrome		Noonan syndrome				5	97					1.23904e-05	1.25222e-05	1	1	0	A	112888199	C	A	112888199	3	1	504	1	0	0	0	0	1	0	0	0	12830	739	26	5	225	5	PTPN11	12	112888199	Missense_Mutation	SNP	C	TCGA-VW-A8FI-01A-11D-A36O-08	7736754	112888199	20963696	48	38096											
TMEM132D	121256	broad.mit.edu	37	12	129566495	129566495	+	Missense_Mutation	SNP	G	G	A			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr12:129566495G>A	ENST00000422113.2	-	7	2058	c.1732C>T	c.(1732-1734)Cgg>Tgg	p.R578W	TMEM132D_ENST00000389441.4_Missense_Mutation_p.R116W	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	578						integral to membrane		p.R578W(2)		NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		GTCAGGACCCGCACCATGGCG	0.652													30	33					0	0	1	0	0	A	129566495	G	A	129566495	3	1	504	1	0	0	0	0	1	0	0	0	16107	1086	38	1	1579	1	TMEM132D	12	129566495	Missense_Mutation	SNP	G	TCGA-VW-A8FI-01A-11D-A36O-08	16678296	129566495	4285400	49	38097											
FRY	10129	broad.mit.edu	37	13	32653043	32653043	+	Missense_Mutation	SNP	C	C	T			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr13:32653043C>T	ENST00000380250.3	+	2	639	c.143C>T	c.(142-144)cCg>cTg	p.P48L		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	48					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		GAGAAAGGGCCGCCAACCATG	0.502													94	147					0	0	1	0	0	T	32653043	C	T	32653043	3	4	504	1	0	0	0	0	1	0	0	0	6098	652	23	1	149	1	FRY	13	32653043	Missense_Mutation	SNP	C	TCGA-VW-A8FI-01A-11D-A36O-08		32653043	82516835	50	38098											
ZFYVE26	23503	broad.mit.edu	37	14	68265336	68265336	+	Missense_Mutation	SNP	G	G	A			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr14:68265336G>A	ENST00000347230.4	-	11	1781	c.1643C>T	c.(1642-1644)gCt>gTt	p.A548V	ZFYVE26_ENST00000555452.1_Missense_Mutation_p.A548V	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	548					cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		GAGATTTGCAGCACCTACAAA	0.443													14	23					0	0	1	0	0	A	68265336	G	A	68265336	3	1	504	1	0	0	0	0	1	0	0	0	17726	971	34	2	6104	2	ZFYVE26	14	68265336	Missense_Mutation	SNP	G	TCGA-VW-A8FI-01A-11D-A36O-08		68265336	39084204	51	38099											
MAP3K9	4293	broad.mit.edu	37	14	71227862	71227862	+	Missense_Mutation	SNP	G	G	T			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr14:71227862G>T	ENST00000554752.2	-	3	857	c.858C>A	c.(856-858)agC>agA	p.S286R	MAP3K9_ENST00000555993.2_Missense_Mutation_p.S286R|MAP3K9_ENST00000553414.1_5'UTR|MAP3K9_ENST00000381250.4_Missense_Mutation_p.S286R|MAP3K9_ENST00000554146.1_Missense_Mutation_p.S23R	NM_001284230.1	NP_001271159.1	P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9	286	Protein kinase.				activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		GAATCTTGTTGCTCAGGTCTC	0.493													15	13					7.93312e-07	8.19181e-07	1	1	0	T	71227862	G	T	71227862	3	4	504	1	0	0	0	0	1	0	0	0	9307	1310	46	5	2542	5	MAP3K9	14	71227862	Missense_Mutation	SNP	G	TCGA-VW-A8FI-01A-11D-A36O-08	2962526	71227862	36121678	52	38100											
NLRC5	84166	broad.mit.edu	37	16	57054711	57054711	+	Silent	SNP	C	C	T			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr16:57054711C>T	ENST00000436936.1	+	3	312	c.87C>T	c.(85-87)aaC>aaT	p.N29N	NLRC5_ENST00000308149.7_Silent_p.N29N|NLRC5_ENST00000262510.6_Silent_p.N29N|NLRC5_ENST00000539144.1_Silent_p.N29N			Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	29					defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				AATGGCTGAACGCCAAGATGA	0.562													4	44					0	0	1	0	0	T	57054711	C	T	57054711	2	4	504	1	0	0	0	0	0	0	0	1	10517	535	19	1		1	NLRC5	16	57054711	Silent	SNP	C	TCGA-VW-A8FI-01A-11D-A36O-08		57054711	33300042	53	38101											
HYDIN	54768	broad.mit.edu	37	16	71007758	71007758	+	Missense_Mutation	SNP	C	C	T			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr16:71007758C>T	ENST00000393567.2	-	34	5353	c.5203G>A	c.(5203-5205)Gtc>Atc	p.V1735I		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	1735										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				TGGCTCTGGACGAACCATTCA	0.483													7	47					0	0	1	0	0	T	71007758	C	T	71007758	3	4	504	1	0	0	0	0	1	0	0	0	7511	536	19	1	10374	1	HYDIN	16	71007758	Missense_Mutation	SNP	C	TCGA-VW-A8FI-01A-11D-A36O-08	13953047	71007758	19346995	54	38102											
TP53	7157	broad.mit.edu	37	17	7578400	7578400	+	Missense_Mutation	SNP	G	G	T			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr17:7578400G>T	ENST00000420246.2	-	5	662	c.530C>A	c.(529-531)cCc>cAc	p.P177H	TP53_ENST00000413465.2_Missense_Mutation_p.P177H|TP53_ENST00000269305.4_Missense_Mutation_p.P177H|TP53_ENST00000359597.4_Missense_Mutation_p.P177H|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000455263.2_Missense_Mutation_p.P177H|TP53_ENST00000445888.2_Missense_Mutation_p.P177H	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	177	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		CP -> FS (in a sporadic cancer; somatic mutation).|P -> A (in a sporadic cancer; somatic mutation).|P -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> H (in sporadic cancers; somatic mutation).|P -> I (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|P -> L (in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> S (in sporadic cancers; somatic mutation).|P -> T (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.P177R(18)|p.P177L(17)|p.P177_C182delPHHERC(8)|p.0?(8)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.P177H(3)|p.R175_E180delRCPHHE(3)|p.P177fs*3(2)|p.V173fs*59(2)|p.R174fs*1(2)|p.C176fs*65(1)|p.C176_P177delCP(1)|p.V173fs*69(1)|p.C176fs*68(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.P177fs*69(1)|p.R175_H178>X(1)|p.H168fs*69(1)|p.E171_H179delEVVRRCPHH(1)|p.P45R(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.P177I(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.P84R(1)|p.R174fs*3(1)|p.E171fs*61(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)		CTCATGGTGGGGGCAGCGCCT	0.647		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)			31	29					3.1745e-13	3.42701e-13	1	1	0	T	7578400	G	T	7578400	3	4	504	1	0	0	0	0	1	0	0	0	16442	1232	43	5	768	5	TP53	17	7578400	Missense_Mutation	SNP	G	TCGA-VW-A8FI-01A-11D-A36O-08		7578400	73616810	55	38103											
TP53	7157	broad.mit.edu	37	17	7578479	7578479	+	Missense_Mutation	SNP	G	G	C	rs28934874		TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr17:7578479G>C	ENST00000420246.2	-	5	583	c.451C>G	c.(451-453)Ccc>Gcc	p.P151A	TP53_ENST00000413465.2_Missense_Mutation_p.P151A|TP53_ENST00000269305.4_Missense_Mutation_p.P151A|TP53_ENST00000359597.4_Missense_Mutation_p.P151A|TP53_ENST00000455263.2_Missense_Mutation_p.P151A|TP53_ENST00000445888.2_Missense_Mutation_p.P151A	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	151	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		P -> A (in sporadic cancers; somatic mutation).|P -> H (in sporadic cancers; somatic mutation).|P -> L (in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934874).|P -> T (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.P151S(68)|p.P151T(16)|p.P151A(13)|p.P152fs*18(9)|p.0?(8)|p.T150fs*16(6)|p.P151fs*30(6)|p.?(5)|p.P58A(2)|p.P58S(2)|p.P19A(2)|p.P19S(2)|p.P151_V173del23(1)|p.P152_P153del(1)|p.P152fs*28(1)|p.T57fs*16(1)|p.P151del(1)|p.D148_T155delDSTPPPGT(1)|p.T150_P153delTPPP(1)|p.D148fs*23(1)|p.S149fs*72(1)|p.P58T(1)|p.S149fs*17(1)|p.Q144_G154del11(1)|p.Q144fs*16(1)|p.P19T(1)|p.P152fs*14(1)|p.T18fs*16(1)|p.T150_P151delTP(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)		CCGGGCGGGGGTGTGGAATCA	0.612		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)			18	43					0	0	1	0	0	C	7578479	G	C	7578479	3	2	504	1	0	0	0	0	1	0	0	0	16442	1261	44	5	847	5	TP53	17	7578479	Missense_Mutation	SNP	G	TCGA-VW-A8FI-01A-11D-A36O-08	79	7578479	73616731	56	38104											
DNAH9	1770	broad.mit.edu	37	17	11666834	11666834	+	Missense_Mutation	SNP	C	C	T			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr17:11666834C>T	ENST00000262442.4	+	36	7141	c.7073C>T	c.(7072-7074)aCg>aTg	p.T2358M	DNAH9_ENST00000454412.2_Missense_Mutation_p.T2358M	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9						cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CTCCTGACCACGGAGGACATC	0.502													32	68					0	0	1	0	0	T	11666834	C	T	11666834	3	4	504	1	0	0	0	0	1	0	0	0	4635	536	19	1	7215	1	DNAH9	17	11666834	Missense_Mutation	SNP	C	TCGA-VW-A8FI-01A-11D-A36O-08	4088355	11666834	69528376	57	38105											
NOS2	4843	broad.mit.edu	37	17	26084290	26084290	+	Silent	SNP	C	C	T			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr17:26084290C>T	ENST00000313735.6	-	27	3677	c.3444G>A	c.(3442-3444)ctG>ctA	p.L1148L		NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN	nitric oxide synthase 2, inducible	1148					arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process	cytosol|nucleus	arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56					Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)	CTGACATCTCCAGGCTGCTGG	0.547											OREG0024267	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	39	60					0	0	1	0	0	T	26084290	C	T	26084290	2	4	504	1	0	0	0	0	0	0	0	1	10590	581	21	2		2	NOS2	17	26084290	Silent	SNP	C	TCGA-VW-A8FI-01A-11D-A36O-08	14417456	26084290	55110920	58	38106											
GNA13	10672	broad.mit.edu	37	17	63049735	63049735	+	Missense_Mutation	SNP	G	G	A			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr17:63049735G>A	ENST00000439174.2	-	2	640	c.395C>T	c.(394-396)gCa>gTa	p.A132V	GNA13_ENST00000541118.1_Missense_Mutation_p.A37V	NM_006572.4	NP_006563.2	Q14344	GNA13_HUMAN	guanine nucleotide binding protein (G protein), alpha 13	132					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase D activity|cellular component movement|platelet activation|Rho protein signal transduction	brush border membrane|heterotrimeric G-protein complex|melanosome	D5 dopamine receptor binding|G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|signal transducer activity|type 1 angiotensin receptor binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(14)|kidney(2)|large_intestine(4)|lung(6)|urinary_tract(1)	34						TCCTTGGGCTGCCATGGGGGC	0.488													5	297					0	0	1	0	0	A	63049735	G	A	63049735	3	1	504	1	0	0	0	0	1	0	0	0	6543	1319	46	2	750	2	GNA13	17	63049735	Missense_Mutation	SNP	G	TCGA-VW-A8FI-01A-11D-A36O-08	36965445	63049735	18145475	59	38107											
COLEC12	81035	broad.mit.edu	37	18	346800	346800	+	Silent	SNP	C	C	T			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr18:346800C>T	ENST00000400256.3	-	5	1029	c.822G>A	c.(820-822)gcG>gcA	p.A274A		NM_130386.2	NP_569057	Q5KU26	COL12_HUMAN	collectin sub-family member 12	274					carbohydrate mediated signaling|innate immune response|phagocytosis, recognition|protein homooligomerization	collagen|integral to membrane	galactose binding|low-density lipoprotein particle binding|metal ion binding|pattern recognition receptor activity|scavenger receptor activity			cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	46		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)				CTTTGGCCAACGCAGAGTTGT	0.502													26	52					0	0	1	0	0	T	346800	C	T	346800	2	4	504	1	0	0	0	0	0	0	0	1	3735	523	19	1		1	COLEC12	18	346800	Silent	SNP	C	TCGA-VW-A8FI-01A-11D-A36O-08		346800	77730448	60	38108											
TUBB6	84617	broad.mit.edu	37	18	12325299	12325299	+	Missense_Mutation	SNP	C	C	T			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr18:12325299C>T	ENST00000317702.5	+	4	745	c.511C>T	c.(511-513)Ccc>Tcc	p.P171S	TUBB6_ENST00000591909.1_Intron|TUBB6_ENST00000591208.1_3'UTR|TUBB6_ENST00000590967.1_Intron			Q9BUF5	TBB6_HUMAN	tubulin, beta 6 class V	171					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)	14				READ - Rectum adenocarcinoma(1;0.0649)		CAGCGTCATGCCCTCGCCCAA	0.617													4	119					0	0	1	0	0	T	12325299	C	T	12325299	3	4	504	1	0	0	0	0	1	0	0	0	16822	739	26	2	525	2	TUBB6	18	12325299	Missense_Mutation	SNP	C	TCGA-VW-A8FI-01A-11D-A36O-08	11978499	12325299	65751949	61	38109											
ZNF521	25925	broad.mit.edu	37	18	22807028	22807028	+	Missense_Mutation	SNP	T	T	C			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr18:22807028T>C	ENST00000361524.3	-	4	1002	c.854A>G	c.(853-855)tAc>tGc	p.Y285C	ZNF521_ENST00000584787.1_Missense_Mutation_p.Y65C|ZNF521_ENST00000538137.2_Missense_Mutation_p.Y285C	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	285					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					CTCGTGGCAGTAGACACACTG	0.547			T	PAX5	ALL								28	39					0	0	1	0	0	C	22807028	T	C	22807028	3	2	504	1	0	0	0	0	1	0	0	0	18022	1638	57	3	3101	3	ZNF521	18	22807028	Missense_Mutation	SNP	T	TCGA-VW-A8FI-01A-11D-A36O-08	10481729	22807028	55270220	62	38110											
S1PR4	8698	broad.mit.edu	37	19	3179742	3179742	+	Missense_Mutation	SNP	G	G	A	rs145561195	byFrequency	TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr19:3179742G>A	ENST00000246115.3	+	1	1007	c.952G>A	c.(952-954)Gtg>Atg	p.V318M		NM_003775.3	NP_003766.1	O95977	S1PR4_HUMAN	sphingosine-1-phosphate receptor 4	318					activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|immune response	integral to plasma membrane	lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity	p.V318M(2)		breast(1)|kidney(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	13						GTGCAGAGCCGTGCTCAGCTT	0.687													32	70					0	0	1	0	0	A	3179742	G	A	3179742	3	1	504	1	0	0	0	0	1	0	0	0	13848	1145	40	1	954	1	S1PR4	19	3179742	Missense_Mutation	SNP	G	TCGA-VW-A8FI-01A-11D-A36O-08		3179742	55949241	63	38111											
MYBPC2	4606	broad.mit.edu	37	19	50939061	50939061	+	Silent	SNP	T	T	C			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr19:50939061T>C	ENST00000357701.5	+	3	189	c.138T>C	c.(136-138)acT>acC	p.T46T		NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type	46					cell adhesion|muscle filament sliding	cytosol|myosin filament	actin binding|structural constituent of muscle			breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		AGTCCCCGACTGCAGAGGAGC	0.662													7	10					0	0	1	0	0	C	50939061	T	C	50939061	2	2	504	1	0	0	0	0	0	0	0	1	10060	1567	55	3		3	MYBPC2	19	50939061	Silent	SNP	T	TCGA-VW-A8FI-01A-11D-A36O-08	47759319	50939061	8189922	64	38112											
CHRNA4	1137	broad.mit.edu	37	20	61981649	61981649	+	Missense_Mutation	SNP	T	T	C			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr20:61981649T>C	ENST00000370263.4	-	5	1335	c.1114A>G	c.(1114-1116)Atc>Gtc	p.I372V	CHRNA4_ENST00000463705.1_5'UTR	NM_000744.6|NM_001256573.1	NP_000735.1|NP_001243502.1	P43681	ACHA4_HUMAN	cholinergic receptor, nicotinic, alpha 4 (neuronal)	372					B cell activation|behavioral response to nicotine|calcium ion transport|cognition|DNA repair|membrane depolarization|regulation of action potential|regulation of dopamine secretion|regulation of inhibitory postsynaptic membrane potential|response to hypoxia|response to oxidative stress|sensory perception of pain|synaptic transmission, cholinergic	cell junction|dendrite|external side of plasma membrane|membrane fraction|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(19)|prostate(3)|skin(3)|soft_tissue(1)	33	all_cancers(38;1.71e-10)				Nicotine(DB00184)|Varenicline(DB01273)	ATGGACTCGATGAGCCGCCGG	0.672													5	19					0	0	1	0	0	C	61981649	T	C	61981649	3	2	504	1	0	0	0	0	1	0	0	0	3407	1464	51	3	777	3	CHRNA4	20	61981649	Missense_Mutation	SNP	T	TCGA-VW-A8FI-01A-11D-A36O-08		61981649	1043871	65	38113											
BAGE2	85319	broad.mit.edu	37	21	11039052	11039052	+	RNA	SNP	T	T	A			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr21:11039052T>A	ENST00000470054.1	-	0	1151									B melanoma antigen family, member 2															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)		TCAGAGTCCATCAATCCAGTA	0.383													23	546					0	0	1	0	0	A	11039052	T	A	11039052	1	1	504	0	1	0	0	0	0	0	0	0	1290	1450	50	4		4	BAGE2	21	11039052	RNA	SNP	T	TCGA-VW-A8FI-01A-11D-A36O-08		11039052	37090843	66	38114											
NRIP1	8204	broad.mit.edu	37	21	16339588	16339588	+	Frame_Shift_Del	DEL	T	T	-			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr21:16339588delT	ENST00000400202.1	-	3	1638	c.926delA	c.(925-927)cagfs	p.Q309fs	NRIP1_ENST00000400199.1_Frame_Shift_Del_p.Q309fs|NRIP1_ENST00000318948.4_Frame_Shift_Del_p.Q309fs			P48552	NRIP1_HUMAN	nuclear receptor interacting protein 1	309	Repression domain 1.				androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		androgen receptor binding|estrogen receptor binding|glucocorticoid receptor binding|transcription coactivator activity|transcription corepressor activity			cervix(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(13)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	39				Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24)		AACATCCTTCTGGCCATTTTC	0.433													18	71	---	---	---	---						-	16339588	T	-	16339588	7	5	504	1	0	1	0	1	0	0	0	0	10700	1580	55	0	2554	0	NRIP1	21	16339588	Frame_Shift_Del	DEL	T	TCGA-VW-A8FI-01A-11D-A36O-08	5300536	16339588	31790307	67	38115											
KRTAP11-1	337880	broad.mit.edu	37	21	32253792	32253792	+	Missense_Mutation	SNP	G	G	A			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr21:32253792G>A	ENST00000332378.4	-	1	82	c.52C>T	c.(52-54)Cgc>Tgc	p.R18C		NM_175858.2	NP_787054.1	Q8IUC1	KR111_HUMAN	keratin associated protein 11-1	18						keratin filament	structural molecule activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|pancreas(1)	18						ACAATGCAGCGTCCTCCAATG	0.542													29	63					0	0	1	0	0	A	32253792	G	A	32253792	3	1	504	1	0	0	0	0	1	0	0	0	8560	1145	40	1	443	1	KRTAP11-1	21	32253792	Missense_Mutation	SNP	G	TCGA-VW-A8FI-01A-11D-A36O-08	15914204	32253792	15876103	68	38116											
NDUFV3	4731	broad.mit.edu	37	21	44323624	44323624	+	Missense_Mutation	SNP	G	G	C			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr21:44323624G>C	ENST00000354250.2	+	3	571	c.502G>C	c.(502-504)Gct>Cct	p.A168P	NDUFV3_ENST00000340344.4_Intron|NDUFV3_ENST00000460259.1_3'UTR	NM_021075.3	NP_066553.3	P56181	NDUV3_HUMAN	NADH dehydrogenase (ubiquinone) flavoprotein 3, 10kDa	0					mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I|nucleus	NADH dehydrogenase (ubiquinone) activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	10				STAD - Stomach adenocarcinoma(101;0.0606)	NADH(DB00157)	TGATGATGAGGCTGACGTTTC	0.542													49	119					0	0	1	0	0	C	44323624	G	C	44323624	3	2	504	1	0	0	0	0	1	0	0	0	10348	1203	42	5	512	5	NDUFV3	21	44323624	Missense_Mutation	SNP	G	TCGA-VW-A8FI-01A-11D-A36O-08	12069832	44323624	3806271	69	38117											
CBX6	23466	broad.mit.edu	37	22	39262562	39262562	+	Silent	SNP	G	G	A			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr22:39262562G>A	ENST00000407418.3	-	5	1014	c.891C>T	c.(889-891)ccC>ccT	p.P297P	CBX6_ENST00000216083.6_Silent_p.P279P			O95503	CBX6_HUMAN	chromobox homolog 6	297					chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	PcG protein complex				large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6	Melanoma(58;0.04)					TCACGGTCTCGGGGAGGAGCT	0.741													3	10					0	0	1	0	0	A	39262562	G	A	39262562	2	1	504	1	0	0	0	0	0	0	0	1	2740	1103	39	1		1	CBX6	22	39262562	Silent	SNP	G	TCGA-VW-A8FI-01A-11D-A36O-08		39262562	12042004	70	38118											
MAGEB6	158809	broad.mit.edu	37	X	26212102	26212102	+	Missense_Mutation	SNP	G	G	A			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chrX:26212102G>A	ENST00000379034.1	+	2	288	c.139G>A	c.(139-141)Gct>Act	p.A47T		NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	47	Ser-rich.									breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						CTCTTCTCGCGCTTGTCTGGG	0.552													50	8					0	0	1	0	0	A	26212102	G	A	26212102	3	1	504	1	0	0	0	0	1	0	0	0	9229	1087	38	1	141	1	MAGEB6	23	26212102	Missense_Mutation	SNP	G	TCGA-VW-A8FI-01A-11D-A36O-08		26212102	129058458	71	38119											
FAM47C	442444	broad.mit.edu	37	X	37026705	37026705	+	Silent	SNP	C	C	T	rs149618786	byFrequency	TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chrX:37026705C>T	ENST00000358047.3	+	1	274	c.222C>T	c.(220-222)gaC>gaT	p.D74D		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	74								p.D74D(1)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						GTCGCCGTGACGAGTTTTTAC	0.527													33	9					0	0	1	0	0	T	37026705	C	T	37026705	2	4	504	1	0	0	0	0	0	0	0	1	5607	535	19	1		1	FAM47C	23	37026705	Silent	SNP	C	TCGA-VW-A8FI-01A-11D-A36O-08	10814603	37026705	118243855	72	38120											
ELK1	2002	broad.mit.edu	37	X	47500629	47500629	+	Splice_Site	SNP	A	A	G			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chrX:47500629A>G	ENST00000247161.3	-	2	310		c.e2+1		ELK1_ENST00000376983.3_Splice_Site|ELK1_ENST00000592066.1_Splice_Site|ELK1_ENST00000343894.4_Splice_Site	NM_005229.4	NP_005220.2	P19419	ELK1_HUMAN	ELK1, member of ETS oncogene family						innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway		protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|skin(2)	10						GAGAGACTGTACCTTGTCATA	0.478													25	4					0	0	1	0	0	G	47500629	A	G	47500629	5	3	504	1	0	0	0	0	0	0	1	0	5087	405	14	3	1094	3	ELK1	23	47500629	Splice_Site	SNP	A	TCGA-VW-A8FI-01A-11D-A36O-08	10473924	47500629	107769931	73	38121											
NRAS	4893	broad.mit.edu	37	1	115256529	115256529	+	Missense_Mutation	SNP	T	T	C	rs11554290		TCGA-W9-A837-01A-11D-A36O-08	TCGA-W9-A837-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cde89bf-7a49-4ec1-8cbb-505e17a13016	4c85a4ba-ea92-4b99-9c08-0b4943620dc9	g.chr1:115256529T>C	ENST00000369535.4	-	3	435	c.182A>G	c.(181-183)cAa>cGa	p.Q61R		NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	61			Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	Golgi membrane|plasma membrane	GTP binding|GTPase activity	p.Q61R(817)|p.Q61L(175)|p.Q61P(23)|p.Q61K(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTACTCTTCTTGTCCAGCTGT	0.458	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50	Mis		"melanoma, MM, AML, thyroid"				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)			7	78					0	0	1	0	0	C	115256529	T	C	115256529	3	2	505	1	0	0	0	0	1	0	0	0	10688	1812	63	3	399	3	NRAS	1	115256529	Missense_Mutation	SNP	T	TCGA-W9-A837-01A-11D-A36O-08		115256529	133994092	1	38122											
OBSCN	84033	broad.mit.edu	37	1	228481238	228481238	+	Silent	SNP	C	C	T			TCGA-W9-A837-01A-11D-A36O-08	TCGA-W9-A837-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cde89bf-7a49-4ec1-8cbb-505e17a13016	4c85a4ba-ea92-4b99-9c08-0b4943620dc9	g.chr1:228481238C>T	ENST00000570156.2	+	46	12413	c.12339C>T	c.(12337-12339)cgC>cgT	p.R4113R	OBSCN_ENST00000366707.4_Silent_p.R803R|OBSCN_ENST00000359599.6_Silent_p.R2531R|OBSCN_ENST00000284548.11_Silent_p.R3684R|OBSCN_ENST00000366709.4_Silent_p.R803R|OBSCN_ENST00000422127.1_Silent_p.R3684R	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	3155	Ig-like 42.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				TGCAGATCCGCGGCCTCGTGG	0.637													26	78					0	0	1	0	0	T	228481238	C	T	228481238	2	4	505	1	0	0	0	0	0	0	0	1	10860	755	27	1		1	OBSCN	1	228481238	Silent	SNP	C	TCGA-W9-A837-01A-11D-A36O-08	113224709	228481238	20769383	2	38123											
OR2W3	343171	broad.mit.edu	37	1	248059036	248059036	+	Missense_Mutation	SNP	C	C	T			TCGA-W9-A837-01A-11D-A36O-08	TCGA-W9-A837-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cde89bf-7a49-4ec1-8cbb-505e17a13016	4c85a4ba-ea92-4b99-9c08-0b4943620dc9	g.chr1:248059036C>T	ENST00000537741.1	+	3	405	c.148C>T	c.(148-150)Cgg>Tgg	p.R50W	OR2W3_ENST00000360358.3_Missense_Mutation_p.R50W			Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W, member 3	50					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			CCTGGTGTCCCGGCTGGACCC	0.587													18	128					0	0	1	0	0	T	248059036	C	T	248059036	3	4	505	1	0	0	0	0	1	0	0	0	11081	643	23	1	150	1	OR2W3	1	248059036	Missense_Mutation	SNP	C	TCGA-W9-A837-01A-11D-A36O-08	19577798	248059036	1191585	3	38124											
MAP4K3	8491	broad.mit.edu	37	2	39499514	39499514	+	Missense_Mutation	SNP	T	T	C			TCGA-W9-A837-01A-11D-A36O-08	TCGA-W9-A837-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cde89bf-7a49-4ec1-8cbb-505e17a13016	4c85a4ba-ea92-4b99-9c08-0b4943620dc9	g.chr2:39499514T>C	ENST00000263881.3	-	26	2207	c.1883A>G	c.(1882-1884)aAt>aGt	p.N628S	MAP4K3_ENST00000341681.5_Missense_Mutation_p.N607S|MAP4K3_ENST00000437545.1_Missense_Mutation_p.N544S|MAP4K3_ENST00000536018.1_Missense_Mutation_p.N181S	NM_003618.3	NP_003609.2	Q8IVH8	M4K3_HUMAN	mitogen-activated protein kinase kinase kinase kinase 3	628	CNH.				JNK cascade		ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_hematologic(82;0.211)				CCCTGGTAAATTATGGGAATA	0.328													4	100					0	0	1	0	0	C	39499514	T	C	39499514	3	2	505	1	0	0	0	0	1	0	0	0	9311	1493	52	3	837	3	MAP4K3	2	39499514	Missense_Mutation	SNP	T	TCGA-W9-A837-01A-11D-A36O-08		39499514	203699859	4	38125											
DBI	1622	broad.mit.edu	37	2	120128319	120128319	+	Frame_Shift_Del	DEL	G	G	-			TCGA-W9-A837-01A-11D-A36O-08	TCGA-W9-A837-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cde89bf-7a49-4ec1-8cbb-505e17a13016	4c85a4ba-ea92-4b99-9c08-0b4943620dc9	g.chr2:120128319delG	ENST00000542275.1	+	3	398	c.314delG	c.(313-315)cggfs	p.R105fs	DBI_ENST00000355857.3_Frame_Shift_Del_p.R44fs|DBI_ENST00000393103.2_Frame_Shift_Del_p.R45fs|DBI_ENST00000409094.1_Frame_Shift_Del_p.R61fs|DBI_ENST00000535617.1_Frame_Shift_Del_p.R86fs|DBI_ENST00000535757.1_Frame_Shift_Del_p.R61fs|DBI_ENST00000311521.4_Frame_Shift_Del_p.R61fs|DBI_ENST00000460901.1_3'UTR	NM_001178017.1	NP_001171488.1	P07108	ACBP_HUMAN	diazepam binding inhibitor (GABA receptor modulator, acyl-CoA binding protein)	44					transport		benzodiazepine receptor binding|fatty-acyl-CoA binding			kidney(1)|lung(4)|skin(1)	6						GTTTAAGAACGGCCCGGGATG	0.428													13	31	---	---	---	---						-	120128319	G	-	120128319	7	5	505	1	0	1	0	1	0	0	0	0	4275	1116	39	0	447	0	DBI	2	120128319	Frame_Shift_Del	DEL	G	TCGA-W9-A837-01A-11D-A36O-08	80628805	120128319	123071054	5	38126											
LCT	3938	broad.mit.edu	37	2	136594247	136594247	+	Silent	SNP	G	G	A			TCGA-W9-A837-01A-11D-A36O-08	TCGA-W9-A837-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cde89bf-7a49-4ec1-8cbb-505e17a13016	4c85a4ba-ea92-4b99-9c08-0b4943620dc9	g.chr2:136594247G>A	ENST00000264162.2	-	1	503	c.493C>T	c.(493-495)Cta>Tta	p.L165L		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	165	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		ATCCCAACTAGGTCCCCGAAG	0.577													4	82					0	0	1	0	0	A	136594247	G	A	136594247	2	1	505	1	0	0	0	0	0	0	0	1	8732	991	35	2		2	LCT	2	136594247	Silent	SNP	G	TCGA-W9-A837-01A-11D-A36O-08	16465928	136594247	106605126	6	38127											
SCN3A	6328	broad.mit.edu	37	2	166010994	166010994	+	Missense_Mutation	SNP	C	C	T			TCGA-W9-A837-01A-11D-A36O-08	TCGA-W9-A837-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cde89bf-7a49-4ec1-8cbb-505e17a13016	4c85a4ba-ea92-4b99-9c08-0b4943620dc9	g.chr2:166010994C>T	ENST00000360093.3	-	11	1839	c.1348G>A	c.(1348-1350)Gaa>Aaa	p.E450K	SCN3A_ENST00000283254.7_Missense_Mutation_p.E450K|SCN3A_ENST00000409101.3_Missense_Mutation_p.E450K	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	450						voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.E450K(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	TTAAGCTGTTCGAGCATCTGC	0.403													5	82					0	0	1	0	0	T	166010994	C	T	166010994	3	4	505	1	0	0	0	0	1	0	0	0	13972	893	31	1	4726	1	SCN3A	2	166010994	Missense_Mutation	SNP	C	TCGA-W9-A837-01A-11D-A36O-08	29416747	166010994	77188379	7	38128											
ZDBF2	57683	broad.mit.edu	37	2	207171695	207171695	+	Missense_Mutation	SNP	G	G	A			TCGA-W9-A837-01A-11D-A36O-08	TCGA-W9-A837-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cde89bf-7a49-4ec1-8cbb-505e17a13016	4c85a4ba-ea92-4b99-9c08-0b4943620dc9	g.chr2:207171695G>A	ENST00000374423.3	+	5	2829	c.2443G>A	c.(2443-2445)Gtt>Att	p.V815I		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	815							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						GGAAGAAACTGTTGATCTGGA	0.348													5	55					0	0	1	0	0	A	207171695	G	A	207171695	3	1	505	1	0	0	0	0	1	0	0	0	17657	1377	48	2	2453	2	ZDBF2	2	207171695	Missense_Mutation	SNP	G	TCGA-W9-A837-01A-11D-A36O-08	41160701	207171695	36027678	8	38129											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-W9-A837-01A-11D-A36O-08	TCGA-W9-A837-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cde89bf-7a49-4ec1-8cbb-505e17a13016	4c85a4ba-ea92-4b99-9c08-0b4943620dc9	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								37	53					0	0	1	0	0	T	209113112	C	T	209113112	3	4	505	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-W9-A837-01A-11D-A36O-08	1941417	209113112	34086261	9	38130											
KLHDC8B	200942	broad.mit.edu	37	3	49210376	49210376	+	Silent	SNP	A	A	G			TCGA-W9-A837-01A-11D-A36O-08	TCGA-W9-A837-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cde89bf-7a49-4ec1-8cbb-505e17a13016	4c85a4ba-ea92-4b99-9c08-0b4943620dc9	g.chr3:49210376A>G	ENST00000332780.2	+	2	383	c.174A>G	c.(172-174)acA>acG	p.T58T	KLHDC8B_ENST00000476495.2_3'UTR	NM_173546.2	NP_775817.1	Q8IXV7	KLD8B_HUMAN	kelch domain containing 8B	58						cytoplasm				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|skin(1)|stomach(1)	7				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		CCTCGCACACATGGCTGGCAC	0.652													5	51					0	0	1	0	0	G	49210376	A	G	49210376	2	3	505	1	0	0	0	0	0	0	0	1	8406	204	8	3		3	KLHDC8B	3	49210376	Silent	SNP	A	TCGA-W9-A837-01A-11D-A36O-08		49210376	148812054	10	38131											
ALDH1L1	10840	broad.mit.edu	37	3	125831672	125831672	+	Nonsense_Mutation	SNP	G	G	A			TCGA-W9-A837-01A-11D-A36O-08	TCGA-W9-A837-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cde89bf-7a49-4ec1-8cbb-505e17a13016	4c85a4ba-ea92-4b99-9c08-0b4943620dc9	g.chr3:125831672G>A	ENST00000393434.2	-	19	2483	c.2134C>T	c.(2134-2136)Cga>Tga	p.R712*	ALDH1L1_ENST00000273450.3_Nonsense_Mutation_p.R722*|ALDH1L1_ENST00000393431.2_3'UTR|ALDH1L1_ENST00000452905.2_Nonsense_Mutation_p.R611*|ALDH1L1_ENST00000472186.1_Nonsense_Mutation_p.R712*	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	712	Aldehyde dehydrogenase.				10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	ACAAAGAGTCGGCCTGCTGCA	0.557													9	78					0	0	1	0	0	A	125831672	G	A	125831672	4	1	505	1	0	0	0	0	0	1	0	0	491	1124	39	1	594	1	ALDH1L1	3	125831672	Nonsense_Mutation	SNP	G	TCGA-W9-A837-01A-11D-A36O-08	76621296	125831672	72190758	11	38132											
NIPBL	25836	broad.mit.edu	37	5	36972046	36972046	+	Splice_Site	SNP	G	G	A			TCGA-W9-A837-01A-11D-A36O-08	TCGA-W9-A837-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cde89bf-7a49-4ec1-8cbb-505e17a13016	4c85a4ba-ea92-4b99-9c08-0b4943620dc9	g.chr5:36972046G>A	ENST00000282516.8	+	8	1270		c.e8-1		NIPBL_ENST00000448238.2_Splice_Site|NIPBL_ENST00000504430.1_Splice_Site	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)						brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			TCTATTTTTAGGATGGAGATT	0.378													9	45					0	0	1	0	0	A	36972046	G	A	36972046	5	1	505	1	0	0	0	0	0	0	1	0	10475	1014	35	2	797	2	NIPBL	5	36972046	Splice_Site	SNP	G	TCGA-W9-A837-01A-11D-A36O-08		36972046	143943214	12	38133											
NIPBL	25836	broad.mit.edu	37	5	36985023	36985023	+	Missense_Mutation	SNP	C	C	T			TCGA-W9-A837-01A-11D-A36O-08	TCGA-W9-A837-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cde89bf-7a49-4ec1-8cbb-505e17a13016	4c85a4ba-ea92-4b99-9c08-0b4943620dc9	g.chr5:36985023C>T	ENST00000282516.8	+	10	2240	c.1741C>T	c.(1741-1743)Ctt>Ttt	p.L581F	NIPBL_ENST00000448238.2_Missense_Mutation_p.L581F|NIPBL_ENST00000504430.1_3'UTR	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	581					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			TGTTTCTGTTCTTCAGGAAGA	0.388													8	90					0	0	1	0	0	T	36985023	C	T	36985023	3	4	505	1	0	0	0	0	1	0	0	0	10475	913	32	2	1775	2	NIPBL	5	36985023	Missense_Mutation	SNP	C	TCGA-W9-A837-01A-11D-A36O-08	12977	36985023	143930237	13	38134											
UTP15	84135	broad.mit.edu	37	5	72866466	72866466	+	Silent	SNP	C	C	G			TCGA-W9-A837-01A-11D-A36O-08	TCGA-W9-A837-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cde89bf-7a49-4ec1-8cbb-505e17a13016	4c85a4ba-ea92-4b99-9c08-0b4943620dc9	g.chr5:72866466C>G	ENST00000296792.4	+	6	858	c.603C>G	c.(601-603)ctC>ctG	p.L201L	UTP15_ENST00000508491.1_Silent_p.L182L|UTP15_ENST00000543251.1_Silent_p.L11L	NM_001284431.1|NM_032175.2	NP_001271360.1|NP_115551.2	Q8TED0	UTP15_HUMAN	UTP15, U3 small nucleolar ribonucleoprotein, homolog (S. cerevisiae)	201					rRNA processing	cytoplasm|nucleolus				endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	15		Lung NSC(167;0.00405)|Ovarian(174;0.0129)		OV - Ovarian serous cystadenocarcinoma(47;7.76e-55)		AGAGTGTTCTCTCCGTTGAGC	0.398													11	102					0	0	1	0	0	G	72866466	C	G	72866466	2	3	505	1	0	0	0	0	0	0	0	1	17157	900	32	4		4	UTP15	5	72866466	Silent	SNP	C	TCGA-W9-A837-01A-11D-A36O-08	35881443	72866466	108048794	14	38135											
TGFBI	7045	broad.mit.edu	37	5	135390519	135390519	+	Missense_Mutation	SNP	G	G	A			TCGA-W9-A837-01A-11D-A36O-08	TCGA-W9-A837-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cde89bf-7a49-4ec1-8cbb-505e17a13016	4c85a4ba-ea92-4b99-9c08-0b4943620dc9	g.chr5:135390519G>A	ENST00000442011.2	+	10	1540	c.1379G>A	c.(1378-1380)gGc>gAc	p.G460D	TGFBI_ENST00000305126.8_Missense_Mutation_p.G460D	NM_000358.2	NP_000349.1	Q15582	BGH3_HUMAN	transforming growth factor, beta-induced, 68kDa	460	FAS1 3.				angiogenesis|cell adhesion|cell proliferation|negative regulation of cell adhesion|response to stimulus|visual perception	extracellular space|proteinaceous extracellular matrix	integrin binding	p.G460D(1)		breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			ACTCTGGGCGGCAAAAAACTG	0.423													6	246					0	0	1	0	0	A	135390519	G	A	135390519	3	1	505	1	0	0	0	0	1	0	0	0	15880	1203	42	2	1417	2	TGFBI	5	135390519	Missense_Mutation	SNP	G	TCGA-W9-A837-01A-11D-A36O-08	62524053	135390519	45524741	15	38136											
FAT2	2196	broad.mit.edu	37	5	150932752	150932752	+	Missense_Mutation	SNP	C	C	G			TCGA-W9-A837-01A-11D-A36O-08	TCGA-W9-A837-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cde89bf-7a49-4ec1-8cbb-505e17a13016	4c85a4ba-ea92-4b99-9c08-0b4943620dc9	g.chr5:150932752C>G	ENST00000261800.5	-	5	4154	c.4142G>C	c.(4141-4143)tGg>tCg	p.W1381S		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	1381	Cadherin 12.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GATGTTGAACCAGAAGAGTCC	0.552													27	43					0	0	1	0	0	G	150932752	C	G	150932752	3	3	505	1	0	0	0	0	1	0	0	0	5723	595	21	5	8983	5	FAT2	5	150932752	Missense_Mutation	SNP	C	TCGA-W9-A837-01A-11D-A36O-08	15542233	150932752	29982508	16	38137											
CPEB4	80315	broad.mit.edu	37	5	173380262	173380265	+	Frame_Shift_Del	DEL	AGAT	AGAT	-			TCGA-W9-A837-01A-11D-A36O-08	TCGA-W9-A837-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cde89bf-7a49-4ec1-8cbb-505e17a13016	4c85a4ba-ea92-4b99-9c08-0b4943620dc9	g.chr5:173380262_173380265delAGAT	ENST00000265085.5	+	9	3403_3406	c.1949_1952delAGAT	c.(1948-1953)gagatafs	p.EI650fs	CPEB4_ENST00000334035.5_Frame_Shift_Del_p.EI633fs|CPEB4_ENST00000519835.1_Frame_Shift_Del_p.EI625fs|CPEB4_ENST00000522336.1_Frame_Shift_Del_p.EI260fs|CPEB4_ENST00000520867.1_Frame_Shift_Del_p.EI625fs|CPEB4_ENST00000517880.1_Frame_Shift_Del_p.EI243fs|CPEB4_ENST00000519467.1_3'UTR	NM_030627.2	NP_085130.2	Q17RY0	CPEB4_HUMAN	cytoplasmic polyadenylation element binding protein 4	650	RRM 2.						nucleotide binding|RNA binding			NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	20	Renal(175;0.000159)|Lung NSC(126;0.0128)|all_lung(126;0.0202)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			CAGCATGGAGAGATAGATAAACGG	0.402													20	83	---	---	---	---						-	173380265	AGAT	-	173380262	7	5	505	1	0	1	0	1	0	0	0	0	3826	304	11	0	1983	0	CPEB4	5	173380262	Frame_Shift_Del	DEL	AGAT	TCGA-W9-A837-01A-11D-A36O-08	22447510	173380262	7534998	17	38138											
SLC39A7	7922	broad.mit.edu	37	6	33169301	33169301	+	Frame_Shift_Del	DEL	C	C	-			TCGA-W9-A837-01A-11D-A36O-08	TCGA-W9-A837-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cde89bf-7a49-4ec1-8cbb-505e17a13016	4c85a4ba-ea92-4b99-9c08-0b4943620dc9	g.chr6:33169301delC	ENST00000374677.3	+	1	652	c.279delC	c.(277-279)agcfs	p.S93fs	SLC39A7_ENST00000374675.3_Frame_Shift_Del_p.S93fs	NM_006979.2	NP_008910.2	Q92504	S39A7_HUMAN	solute carrier family 39 (zinc transporter), member 7	93	His-rich.					endoplasmic reticulum membrane|integral to membrane|membrane fraction	protein binding|zinc ion transmembrane transporter activity			NS(1)|breast(3)|endometrium(2)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						ATGGCCATAGCCATGGCTACT	0.552													35	44	---	---	---	---						-	33169301	C	-	33169301	7	5	505	1	0	1	0	1	0	0	0	0	14678	738	26	0	281	0	SLC39A7	6	33169301	Frame_Shift_Del	DEL	C	TCGA-W9-A837-01A-11D-A36O-08		33169301	137945766	18	38139											
LAMA4	3910	broad.mit.edu	37	6	112496653	112496653	+	Missense_Mutation	SNP	C	C	T			TCGA-W9-A837-01A-11D-A36O-08	TCGA-W9-A837-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cde89bf-7a49-4ec1-8cbb-505e17a13016	4c85a4ba-ea92-4b99-9c08-0b4943620dc9	g.chr6:112496653C>T	ENST00000230538.7	-	11	1616	c.1219G>A	c.(1219-1221)Gaa>Aaa	p.E407K	LAMA4_ENST00000389463.4_Missense_Mutation_p.E400K|LAMA4_ENST00000424408.2_Missense_Mutation_p.E400K|LAMA4_ENST00000522006.1_Missense_Mutation_p.E400K	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	407	Domain II and I.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		TCATGCTCTTCCCCATAATAG	0.468													77	102					0	0	1	0	0	T	112496653	C	T	112496653	3	4	505	1	0	0	0	0	1	0	0	0	8647	864	30	2	4368	2	LAMA4	6	112496653	Missense_Mutation	SNP	C	TCGA-W9-A837-01A-11D-A36O-08	79327352	112496653	58618414	19	38140											
SAMD9L	219285	broad.mit.edu	37	7	92763468	92763468	+	Missense_Mutation	SNP	T	T	C			TCGA-W9-A837-01A-11D-A36O-08	TCGA-W9-A837-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cde89bf-7a49-4ec1-8cbb-505e17a13016	4c85a4ba-ea92-4b99-9c08-0b4943620dc9	g.chr7:92763468T>C	ENST00000318238.4	-	5	3033	c.1817A>G	c.(1816-1818)aAc>aGc	p.N606S	SAMD9L_ENST00000411955.1_Missense_Mutation_p.N606S|SAMD9L_ENST00000437805.1_Missense_Mutation_p.N606S	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	606										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			AATACTGTGGTTTGTTAGTTC	0.368													4	128					0	0	1	0	0	C	92763468	T	C	92763468	3	2	505	1	0	0	0	0	1	0	0	0	13879	1725	60	3	2941	3	SAMD9L	7	92763468	Missense_Mutation	SNP	T	TCGA-W9-A837-01A-11D-A36O-08		92763468	66375195	20	38141											
SLC26A4	5172	broad.mit.edu	37	7	107350576	107350576	+	Missense_Mutation	SNP	C	C	A			TCGA-W9-A837-01A-11D-A36O-08	TCGA-W9-A837-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cde89bf-7a49-4ec1-8cbb-505e17a13016	4c85a4ba-ea92-4b99-9c08-0b4943620dc9	g.chr7:107350576C>A	ENST00000265715.3	+	19	2391	c.2167C>A	c.(2167-2169)Cat>Aat	p.H723N	SLC26A4_ENST00000543100.1_Missense_Mutation_p.H292N|SLC26A4_ENST00000541474.1_Missense_Mutation_p.H284N|SLC26A4_ENST00000544569.1_Missense_Mutation_p.H310N	NM_000441.1	NP_000432.1	O43511	S26A4_HUMAN	solute carrier family 26 (anion exchanger), member 4	723	STAS.		H -> R (in DFNB4 and PDS; common mutation in Korea and Japan).		regulation of pH|regulation of protein localization|sensory perception of sound	apical plasma membrane|integral to membrane	chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity			central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						TTTGACGGTCCATGATGCTAT	0.368									Pendred syndrome				4	83					0.00909568	0.00909568	1	1	0	A	107350576	C	A	107350576	3	1	505	1	0	0	0	0	1	0	0	0	14574	594	21	5	2237	5	SLC26A4	7	107350576	Missense_Mutation	SNP	C	TCGA-W9-A837-01A-11D-A36O-08	14587108	107350576	51788087	21	38142											
SLC13A4	26266	broad.mit.edu	37	7	135378959	135378959	+	Missense_Mutation	SNP	C	C	G			TCGA-W9-A837-01A-11D-A36O-08	TCGA-W9-A837-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cde89bf-7a49-4ec1-8cbb-505e17a13016	4c85a4ba-ea92-4b99-9c08-0b4943620dc9	g.chr7:135378959C>G	ENST00000354042.4	-	10	1733	c.1044G>C	c.(1042-1044)aaG>aaC	p.K348N		NM_012450.2	NP_036582.2	Q9UKG4	S13A4_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 4	348						integral to plasma membrane	sodium:sulfate symporter activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	24						TCTTCTTCTTCTTGCTCAGAG	0.393													6	126					0	0	1	0	0	G	135378959	C	G	135378959	3	3	505	1	0	0	0	0	1	0	0	0	14449	912	32	4	864	4	SLC13A4	7	135378959	Missense_Mutation	SNP	C	TCGA-W9-A837-01A-11D-A36O-08	28028383	135378959	23759704	22	38143											
DENND3	22898	broad.mit.edu	37	8	142178542	142178542	+	Silent	SNP	C	C	T			TCGA-W9-A837-01A-11D-A36O-08	TCGA-W9-A837-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cde89bf-7a49-4ec1-8cbb-505e17a13016	4c85a4ba-ea92-4b99-9c08-0b4943620dc9	g.chr8:142178542C>T	ENST00000519811.1	+	13	2263	c.2193C>T	c.(2191-2193)ggC>ggT	p.G731G	DENND3_ENST00000262585.2_Silent_p.G651G|DENND3_ENST00000424248.1_Silent_p.G599G			A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	651										breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			TGCAGCTGGGCGACTTCATGA	0.587													32	51					0	0	1	0	0	T	142178542	C	T	142178542	2	4	505	1	0	0	0	0	0	0	0	1	4460	755	27	1		1	DENND3	8	142178542	Silent	SNP	C	TCGA-W9-A837-01A-11D-A36O-08		142178542	4185480	23	38144											
OR56A4	120793	broad.mit.edu	37	11	6024219	6024219	+	Missense_Mutation	SNP	C	C	T			TCGA-W9-A837-01A-11D-A36O-08	TCGA-W9-A837-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cde89bf-7a49-4ec1-8cbb-505e17a13016	4c85a4ba-ea92-4b99-9c08-0b4943620dc9	g.chr11:6024219C>T	ENST00000330728.4	-	1	205	c.160G>A	c.(160-162)Gca>Aca	p.A54T		NM_001005179.2	NP_001005179.2	Q8NGH8	O56A4_HUMAN	olfactory receptor, family 56, subfamily A, member 4	2					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	32		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTGGGAGATGCCATGTAAAGT	0.473													20	35					0	0	1	0	0	T	6024219	C	T	6024219	3	4	505	1	0	0	0	0	1	0	0	0	11183	739	26	2	939	2	OR56A4	11	6024219	Missense_Mutation	SNP	C	TCGA-W9-A837-01A-11D-A36O-08		6024219	128982297	24	38145											
CAT	847	broad.mit.edu	37	11	34473715	34473715	+	Silent	SNP	A	A	G			TCGA-W9-A837-01A-11D-A36O-08	TCGA-W9-A837-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cde89bf-7a49-4ec1-8cbb-505e17a13016	4c85a4ba-ea92-4b99-9c08-0b4943620dc9	g.chr11:34473715A>G	ENST00000241052.4	+	4	530	c.441A>G	c.(439-441)ggA>ggG	p.G147G		NM_001752.3	NP_001743.1	P04040	CATA_HUMAN	catalase	147					hydrogen peroxide catabolic process|negative regulation of apoptosis|positive regulation of cell division|protein tetramerization|purine base metabolic process|purine nucleotide catabolic process|UV protection	peroxisomal matrix|peroxisomal membrane	catalase activity|heme binding|NADP binding|protein homodimerization activity			breast(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(3)	26		Lung NSC(402;2.76e-08)|Acute lymphoblastic leukemia(5;0.00143)|all_hematologic(20;0.0116)|Melanoma(852;0.027)		BRCA - Breast invasive adenocarcinoma(625;0.000995)	Fomepizole(DB01213)	ATCTCGTTGGAAATAACACCC	0.403													26	58					0	0	1	0	0	G	34473715	A	G	34473715	2	3	505	1	0	0	0	0	0	0	0	1	2704	233	9	3		3	CAT	11	34473715	Silent	SNP	A	TCGA-W9-A837-01A-11D-A36O-08	28449496	34473715	100532801	25	38146											
RAB3IL1	5866	broad.mit.edu	37	11	61675752	61675752	+	Missense_Mutation	SNP	G	G	T			TCGA-W9-A837-01A-11D-A36O-08	TCGA-W9-A837-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cde89bf-7a49-4ec1-8cbb-505e17a13016	4c85a4ba-ea92-4b99-9c08-0b4943620dc9	g.chr11:61675752G>T	ENST00000394836.2	-	2	195	c.38C>A	c.(37-39)cCg>cAg	p.P13Q	RAB3IL1_ENST00000301773.5_Missense_Mutation_p.P60Q	NM_013401.2	NP_037533.2	Q8TBN0	R3GEF_HUMAN	RAB3A interacting protein (rabin3)-like 1	13							protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(2)|liver(1)|lung(4)|skin(3)|urinary_tract(1)	14						AAGGGGCGGCGGGAGGCCCTG	0.677													5	7					8.12818e-05	8.50624e-05	1	1	0	T	61675752	G	T	61675752	3	4	505	1	0	0	0	0	1	0	0	0	12989	1116	39	5	1146	5	RAB3IL1	11	61675752	Missense_Mutation	SNP	G	TCGA-W9-A837-01A-11D-A36O-08	27202037	61675752	73330764	26	38147											
AHNAK	79026	broad.mit.edu	37	11	62300247	62300247	+	Silent	SNP	G	G	A			TCGA-W9-A837-01A-11D-A36O-08	TCGA-W9-A837-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cde89bf-7a49-4ec1-8cbb-505e17a13016	4c85a4ba-ea92-4b99-9c08-0b4943620dc9	g.chr11:62300247G>A	ENST00000378024.4	-	5	1916	c.1642C>T	c.(1642-1644)Cta>Tta	p.L548L	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	548					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				GTTCCCTCTAGGTTTGGTGTC	0.507													8	172					0	0	1	0	0	A	62300247	G	A	62300247	2	1	505	1	0	0	0	0	0	0	0	1	411	991	35	2		2	AHNAK	11	62300247	Silent	SNP	G	TCGA-W9-A837-01A-11D-A36O-08	624495	62300247	72706269	27	38148											
KLRC1	3821	broad.mit.edu	37	12	10601988	10601988	+	Splice_Site	SNP	C	C	A			TCGA-W9-A837-01A-11D-A36O-08	TCGA-W9-A837-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cde89bf-7a49-4ec1-8cbb-505e17a13016	4c85a4ba-ea92-4b99-9c08-0b4943620dc9	g.chr12:10601988C>A	ENST00000544822.1	-	6	725		c.e6-1		KLRC1_ENST00000359151.3_Splice_Site|KLRC1_ENST00000347831.5_Splice_Site|KLRC1_ENST00000536188.1_Splice_Site|KLRC1_ENST00000408006.3_Splice_Site	NM_213658.2	NP_998823	P26715	NKG2A_HUMAN	killer cell lectin-like receptor subfamily C, member 1						cell surface receptor linked signaling pathway|regulation of immune response	integral to plasma membrane	sugar binding|transmembrane receptor activity			NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|skin(1)	16						CAATGACGTGCTAAATAAAGA	0.333													4	237					0.00909568	0.00909568	1	1	0	A	10601988	C	A	10601988	5	1	505	1	0	0	0	0	0	0	1	0	8458	811	28	4	376	4	KLRC1	12	10601988	Splice_Site	SNP	C	TCGA-W9-A837-01A-11D-A36O-08		10601988	123249907	28	38149											
GPR133	283383	broad.mit.edu	37	12	131476803	131476803	+	Missense_Mutation	SNP	C	C	A			TCGA-W9-A837-01A-11D-A36O-08	TCGA-W9-A837-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cde89bf-7a49-4ec1-8cbb-505e17a13016	4c85a4ba-ea92-4b99-9c08-0b4943620dc9	g.chr12:131476803C>A	ENST00000261654.5	+	8	1391	c.832C>A	c.(832-834)Ccc>Acc	p.P278T	RP11-76C10.5_ENST00000542980.1_lincRNA|GPR133_ENST00000535015.1_Missense_Mutation_p.P310T	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	278					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		TGCCTACCATCCCATCATAAC	0.403													15	237					4.14922e-12	4.55402e-12	1	1	0	A	131476803	C	A	131476803	3	1	505	1	0	0	0	0	1	0	0	0	6683	855	30	5	862	5	GPR133	12	131476803	Missense_Mutation	SNP	C	TCGA-W9-A837-01A-11D-A36O-08	120874815	131476803	2375092	29	38150											
SNX6	58533	broad.mit.edu	37	14	35074873	35074873	+	Silent	SNP	T	T	C			TCGA-W9-A837-01A-11D-A36O-08	TCGA-W9-A837-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cde89bf-7a49-4ec1-8cbb-505e17a13016	4c85a4ba-ea92-4b99-9c08-0b4943620dc9	g.chr14:35074873T>C	ENST00000362031.4	-	5	387	c.357A>G	c.(355-357)ctA>ctG	p.L119L	SNX6_ENST00000396534.3_5'UTR|SNX6_ENST00000355110.5_5'UTR|SNX6_ENST00000396526.3_5'UTR	NM_152233.2	NP_689419.2	Q9UNH7	SNX6_HUMAN	sorting nexin 6	107	PX.				cell communication|intracellular protein transport|negative regulation of epidermal growth factor receptor activity|negative regulation of transcription, DNA-dependent|negative regulation of transforming growth factor beta receptor signaling pathway|retrograde transport, endosome to Golgi	cytoplasmic vesicle membrane|early endosome membrane|nucleus	phosphatidylinositol binding|protein homodimerization activity			endometrium(4)|lung(1)|ovary(1)	6	Breast(36;0.0473)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00199)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.0245)		CAAGCTTCTGTAGTTTTTCCC	0.363													6	56					0	0	1	0	0	C	35074873	T	C	35074873	2	2	505	1	0	0	0	0	0	0	0	1	14960	1625	57	3		3	SNX6	14	35074873	Silent	SNP	T	TCGA-W9-A837-01A-11D-A36O-08		35074873	72274667	30	38151											
RTF1	23168	broad.mit.edu	37	15	41769448	41769448	+	Missense_Mutation	SNP	T	T	A			TCGA-W9-A837-01A-11D-A36O-08	TCGA-W9-A837-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cde89bf-7a49-4ec1-8cbb-505e17a13016	4c85a4ba-ea92-4b99-9c08-0b4943620dc9	g.chr15:41769448T>A	ENST00000389629.4	+	13	1658	c.1646T>A	c.(1645-1647)cTg>cAg	p.L549Q		NM_015138.4	NP_055953.3	Q92541	RTF1_HUMAN	Rtf1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)	549					histone modification|regulation of transcription, DNA-dependent|transcription initiation, DNA-dependent	nucleoplasm	protein binding|single-stranded DNA binding			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)	18		all_cancers(109;1.79e-19)|all_epithelial(112;8.18e-17)|Lung NSC(122;3.16e-11)|all_lung(180;8.14e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)		OV - Ovarian serous cystadenocarcinoma(18;1.15e-16)|GBM - Glioblastoma multiforme(113;1.81e-06)|BRCA - Breast invasive adenocarcinoma(123;0.119)		GCAGAGGCCCTGGACCGCCAG	0.542													14	125					0	0	1	0	0	A	41769448	T	A	41769448	3	1	505	1	0	0	0	0	1	0	0	0	13773	1580	55	5	1696	5	RTF1	15	41769448	Missense_Mutation	SNP	T	TCGA-W9-A837-01A-11D-A36O-08		41769448	60761944	31	38152											
TPSD1	23430	broad.mit.edu	37	16	1308192	1308192	+	Missense_Mutation	SNP	G	G	A			TCGA-W9-A837-01A-11D-A36O-08	TCGA-W9-A837-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cde89bf-7a49-4ec1-8cbb-505e17a13016	4c85a4ba-ea92-4b99-9c08-0b4943620dc9	g.chr16:1308192G>A	ENST00000211076.3	+	4	801	c.653G>A	c.(652-654)tGt>tAt	p.C218Y	TPSD1_ENST00000397534.2_Missense_Mutation_p.C211Y	NM_012217.2	NP_036349.1	Q9BZJ3	TRYD_HUMAN	tryptase delta 1	218	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	20		Hepatocellular(780;0.00369)				GACATGCTGTGTGCGGGGAGC	0.627													10	28					0	0	1	0	0	A	1308192	G	A	1308192	3	1	505	1	0	0	0	0	1	0	0	0	16486	1377	48	2	667	2	TPSD1	16	1308192	Missense_Mutation	SNP	G	TCGA-W9-A837-01A-11D-A36O-08		1308192	89046561	32	38153											
TELO2	9894	broad.mit.edu	37	16	1545588	1545588	+	Missense_Mutation	SNP	G	G	A			TCGA-W9-A837-01A-11D-A36O-08	TCGA-W9-A837-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cde89bf-7a49-4ec1-8cbb-505e17a13016	4c85a4ba-ea92-4b99-9c08-0b4943620dc9	g.chr16:1545588G>A	ENST00000262319.6	+	3	856	c.577G>A	c.(577-579)Gtc>Atc	p.V193I		NM_016111.3	NP_057195.2	Q9Y4R8	TELO2_HUMAN	telomere maintenance 2	193						chromosome, telomeric region|cytoplasm|membrane|nucleus	protein binding			NS(1)|endometrium(1)|kidney(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	19		Hepatocellular(780;0.219)				CGAGGAGGTCGTCCGGGTGCT	0.672													31	48					0	0	1	0	0	A	1545588	G	A	1545588	3	1	505	1	0	0	0	0	1	0	0	0	15816	1145	40	1	583	1	TELO2	16	1545588	Missense_Mutation	SNP	G	TCGA-W9-A837-01A-11D-A36O-08	237396	1545588	88809165	33	38154											
PLEKHG4	25894	broad.mit.edu	37	16	67316416	67316416	+	Missense_Mutation	SNP	G	G	A			TCGA-W9-A837-01A-11D-A36O-08	TCGA-W9-A837-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cde89bf-7a49-4ec1-8cbb-505e17a13016	4c85a4ba-ea92-4b99-9c08-0b4943620dc9	g.chr16:67316416G>A	ENST00000360461.5	+	9	3799	c.1264G>A	c.(1264-1266)Gac>Aac	p.D422N	PLEKHG4_ENST00000450733.1_Missense_Mutation_p.D341N|PLEKHG4_ENST00000427155.2_Missense_Mutation_p.D422N|PLEKHG4_ENST00000379344.3_Missense_Mutation_p.D422N	NM_001129727.1|NM_015432.3	NP_001123199.1|NP_056247.1	Q58EX7	PKHG4_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4	422					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119)		GACGGCAATGGACAAGGCTGA	0.562													7	54					0	0	1	0	0	A	67316416	G	A	67316416	3	1	505	1	0	0	0	0	1	0	0	0	12119	1174	41	2	1298	2	PLEKHG4	16	67316416	Missense_Mutation	SNP	G	TCGA-W9-A837-01A-11D-A36O-08	65770828	67316416	23038337	34	38155											
MYH2	4620	broad.mit.edu	37	17	10435136	10435136	+	Missense_Mutation	SNP	T	T	A			TCGA-W9-A837-01A-11D-A36O-08	TCGA-W9-A837-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cde89bf-7a49-4ec1-8cbb-505e17a13016	4c85a4ba-ea92-4b99-9c08-0b4943620dc9	g.chr17:10435136T>A	ENST00000245503.5	-	22	2895	c.2511A>T	c.(2509-2511)aaA>aaT	p.K837N	RP11-799N11.1_ENST00000399342.2_RNA|MYH2_ENST00000532183.2_Intron|MYH2_ENST00000397183.2_Missense_Mutation_p.K837N|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	837					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						TGAAGAAGAGTTTCATCCAGG	0.403													5	158					0	0	1	0	0	A	10435136	T	A	10435136	3	1	505	1	0	0	0	0	1	0	0	0	10083	1722	60	5	3390	5	MYH2	17	10435136	Missense_Mutation	SNP	T	TCGA-W9-A837-01A-11D-A36O-08		10435136	70760074	35	38156											
TMEM220	388335	broad.mit.edu	37	17	10628335	10628335	+	Missense_Mutation	SNP	C	C	G			TCGA-W9-A837-01A-11D-A36O-08	TCGA-W9-A837-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cde89bf-7a49-4ec1-8cbb-505e17a13016	4c85a4ba-ea92-4b99-9c08-0b4943620dc9	g.chr17:10628335C>G	ENST00000341871.3	-	4	744	c.280G>C	c.(280-282)Gaa>Caa	p.E94Q	TMEM220_ENST00000578345.1_Missense_Mutation_p.E84Q|TMEM220_ENST00000455996.2_Missense_Mutation_p.E84Q|TMEM220_ENST00000580186.1_5'UTR	NM_001004313.1	NP_001004313.1	Q6QAJ8	TM220_HUMAN	transmembrane protein 220	94						integral to membrane				kidney(1)|large_intestine(1)|lung(1)|prostate(2)	5						CACCTGCCTTCTTCCTCATGT	0.473													9	130					0	0	1	0	0	G	10628335	C	G	10628335	3	3	505	1	0	0	0	0	1	0	0	0	16204	922	32	4	214	4	TMEM220	17	10628335	Missense_Mutation	SNP	C	TCGA-W9-A837-01A-11D-A36O-08	193199	10628335	70566875	36	38157											
DNAH9	1770	broad.mit.edu	37	17	11584134	11584134	+	Missense_Mutation	SNP	G	G	A			TCGA-W9-A837-01A-11D-A36O-08	TCGA-W9-A837-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cde89bf-7a49-4ec1-8cbb-505e17a13016	4c85a4ba-ea92-4b99-9c08-0b4943620dc9	g.chr17:11584134G>A	ENST00000262442.4	+	19	3739	c.3671G>A	c.(3670-3672)cGc>cAc	p.R1224H	DNAH9_ENST00000454412.2_Missense_Mutation_p.R1224H	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9		Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		ACACTCCTCCGCCAGAGGTGC	0.532													3	23					0	0	1	0	0	A	11584134	G	A	11584134	3	1	505	1	0	0	0	0	1	0	0	0	4635	1087	38	1	3745	1	DNAH9	17	11584134	Missense_Mutation	SNP	G	TCGA-W9-A837-01A-11D-A36O-08	955799	11584134	69611076	37	38158											
DNAH9	1770	broad.mit.edu	37	17	11684410	11684410	+	Missense_Mutation	SNP	A	A	G			TCGA-W9-A837-01A-11D-A36O-08	TCGA-W9-A837-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cde89bf-7a49-4ec1-8cbb-505e17a13016	4c85a4ba-ea92-4b99-9c08-0b4943620dc9	g.chr17:11684410A>G	ENST00000262442.4	+	39	7705	c.7637A>G	c.(7636-7638)gAc>gGc	p.D2546G	DNAH9_ENST00000454412.2_Missense_Mutation_p.D2546G	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9		AAA 3 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TTCATTGATGACATGAACATG	0.547													4	40					0	0	1	0	0	G	11684410	A	G	11684410	3	3	505	1	0	0	0	0	1	0	0	0	4635	275	10	3	7791	3	DNAH9	17	11684410	Missense_Mutation	SNP	A	TCGA-W9-A837-01A-11D-A36O-08	100276	11684410	69510800	38	38159											
ABCA7	10347	broad.mit.edu	37	19	1057960	1057960	+	Missense_Mutation	SNP	G	G	A	rs141237099	by1000genomes	TCGA-W9-A837-01A-11D-A36O-08	TCGA-W9-A837-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cde89bf-7a49-4ec1-8cbb-505e17a13016	4c85a4ba-ea92-4b99-9c08-0b4943620dc9	g.chr19:1057960G>A	ENST00000263094.6	+	36	5158	c.4927G>A	c.(4927-4929)Gtg>Atg	p.V1643M	ABCA7_ENST00000435683.2_Missense_Mutation_p.V1505M|ABCA7_ENST00000433129.1_Missense_Mutation_p.V1643M	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	1643					phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity			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)		CTTCTTCTCCGTGCCCAGCAC	0.522													4	142					0	0	1	0	0	A	1057960	G	A	1057960	3	1	505	1	0	0	0	0	1	0	0	0	37	1145	40	1	5065	1	ABCA7	19	1057960	Missense_Mutation	SNP	G	TCGA-W9-A837-01A-11D-A36O-08		1057960	58071023	39	38160											
CRTC1	23373	broad.mit.edu	37	19	18888093	18888093	+	Silent	SNP	C	C	T			TCGA-W9-A837-01A-11D-A36O-08	TCGA-W9-A837-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cde89bf-7a49-4ec1-8cbb-505e17a13016	4c85a4ba-ea92-4b99-9c08-0b4943620dc9	g.chr19:18888093C>T	ENST00000338797.6	+	15	1879	c.1854C>T	c.(1852-1854)atC>atT	p.I618I	CRTC1_ENST00000601916.1_Silent_p.I360I|CRTC1_ENST00000321949.8_Silent_p.I602I|CRTC1_ENST00000594658.1_Silent_p.I561I	NM_001098482.1	NP_001091952.1	Q6UUV9	CRTC1_HUMAN	CREB regulated transcription coactivator 1	602					interspecies interaction between organisms|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	cAMP response element binding protein binding|protein binding		CRTC1/MAML2(516)	NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	19						AACTCAAGATCGACCCCCTGA	0.642													138	198					0	0	1	0	0	T	18888093	C	T	18888093	2	4	505	1	0	0	0	0	0	0	0	1	3922	874	31	1		1	CRTC1	19	18888093	Silent	SNP	C	TCGA-W9-A837-01A-11D-A36O-08	17830133	18888093	40240890	40	38161											
SMPDL3B	27293	broad.mit.edu	37	1	28285340	28285340	+	Silent	SNP	C	C	T			TCGA-WH-A86K-01A-11D-A36O-08	TCGA-WH-A86K-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bdfdc5a-8ddf-423d-80c3-d5c5e8941145	ed670b4f-21e6-4c0b-b12c-39158a1921b6	g.chr1:28285340C>T	ENST00000373894.3	+	8	1550	c.1359C>T	c.(1357-1359)ctC>ctT	p.L453L	RP11-460I13.2_ENST00000448015.1_RNA|SMPDL3B_ENST00000549094.1_Silent_p.L405L	NM_014474.2	NP_055289.2	Q92485	ASM3B_HUMAN	sphingomyelin phosphodiesterase, acid-like 3B	453				LVL -> TRAVTCQAHHSSW (in Ref. 1; CAA69328).	sphingomyelin catabolic process	extracellular space	hydrolase activity, acting on glycosyl bonds|sphingomyelin phosphodiesterase activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	16		Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000431)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;5.68e-24)|Colorectal(126;1.65e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00587)|READ - Rectum adenocarcinoma(331;0.055)		TGTGCACGCTCGTGCTGTGAC	0.652													5	11					0	0	1	0	0	T	28285340	C	T	28285340	2	4	506	1	0	0	0	0	0	0	0	1	14863	871	31	1		1	SMPDL3B	1	28285340	Silent	SNP	C	TCGA-WH-A86K-01A-11D-A36O-08		28285340	220965281	1	38162											
CELF3	11189	broad.mit.edu	37	1	151678361	151678361	+	Missense_Mutation	SNP	A	A	G			TCGA-WH-A86K-01A-11D-A36O-08	TCGA-WH-A86K-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bdfdc5a-8ddf-423d-80c3-d5c5e8941145	ed670b4f-21e6-4c0b-b12c-39158a1921b6	g.chr1:151678361A>G	ENST00000290583.4	-	11	2000	c.1207T>C	c.(1207-1209)Ttt>Ctt	p.F403L	RP11-98D18.1_ENST00000457548.1_RNA|CELF3_ENST00000290585.4_Missense_Mutation_p.F353L|CELF3_ENST00000470688.1_5'UTR|CELF3_ENST00000392706.3_Missense_Mutation_p.F198L	NM_001172648.1|NM_007185.4	NP_001166119.1|NP_009116.3	Q5SZQ8	CELF3_HUMAN	CUGBP, Elav-like family member 3	403	RRM 3.				nuclear mRNA splicing, via spliceosome|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	mRNA binding|nucleotide binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)	21						ACGTGGCCAAAGGGGACAAAC	0.493													3	72					0	0	1	0	0	G	151678361	A	G	151678361	3	3	506	1	0	0	0	0	1	0	0	0	3239	72	3	3	198	3	CELF3	1	151678361	Missense_Mutation	SNP	A	TCGA-WH-A86K-01A-11D-A36O-08	123393021	151678361	97572260	2	38163											
SEMA4A	64218	broad.mit.edu	37	1	156131199	156131199	+	Silent	SNP	G	G	T			TCGA-WH-A86K-01A-11D-A36O-08	TCGA-WH-A86K-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bdfdc5a-8ddf-423d-80c3-d5c5e8941145	ed670b4f-21e6-4c0b-b12c-39158a1921b6	g.chr1:156131199G>T	ENST00000368285.3	+	9	1140	c.873G>T	c.(871-873)ctG>ctT	p.L291L	SEMA4A_ENST00000355014.2_Silent_p.L291L|SEMA4A_ENST00000487358.1_3'UTR|SEMA4A_ENST00000368282.1_Silent_p.L291L|SEMA4A_ENST00000368284.1_Silent_p.L159L|SEMA4A_ENST00000368286.2_Silent_p.L159L	NM_001193300.1|NM_022367.3	NP_001180229.1|NP_071762.2	Q9H3S1	SEM4A_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A	291	Sema.				axon guidance	integral to membrane|plasma membrane	receptor activity			breast(1)|ovary(2)|skin(2)	5	Hepatocellular(266;0.158)					AGGCCCAGCTGCTCTGCACCC	0.672													16	26					7.07596e-05	7.34811e-05	1	1	0	T	156131199	G	T	156131199	2	4	506	1	0	0	0	0	0	0	0	1	14085	1306	46	5		5	SEMA4A	1	156131199	Silent	SNP	G	TCGA-WH-A86K-01A-11D-A36O-08	4452838	156131199	93119422	3	38164											
DNMT3A	1788	broad.mit.edu	37	2	25470556	25470556	+	Nonsense_Mutation	SNP	C	C	T	rs140925689		TCGA-WH-A86K-01A-11D-A36O-08	TCGA-WH-A86K-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bdfdc5a-8ddf-423d-80c3-d5c5e8941145	ed670b4f-21e6-4c0b-b12c-39158a1921b6	g.chr2:25470556C>T	ENST00000264709.3	-	8	1255	c.918G>A	c.(916-918)tgG>tgA	p.W306*	DNMT3A_ENST00000402667.1_Nonsense_Mutation_p.W83*|DNMT3A_ENST00000380746.4_Nonsense_Mutation_p.W117*|DNMT3A_ENST00000321117.5_Nonsense_Mutation_p.W306*	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	306	Interaction with DNMT1 and DNMT3B.|PWWP.				regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGCGGCCTGGCCACCAGGAGA	0.617			"Mis, F, N, S"		AML								32	36					0	0	1	0	0	T	25470556	C	T	25470556	4	4	506	1	0	0	0	0	0	1	0	0	4703	740	26	2	1884	2	DNMT3A	2	25470556	Nonsense_Mutation	SNP	C	TCGA-WH-A86K-01A-11D-A36O-08		25470556	217728817	4	38165											
VIT	5212	broad.mit.edu	37	2	37035700	37035700	+	Missense_Mutation	SNP	G	G	A			TCGA-WH-A86K-01A-11D-A36O-08	TCGA-WH-A86K-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bdfdc5a-8ddf-423d-80c3-d5c5e8941145	ed670b4f-21e6-4c0b-b12c-39158a1921b6	g.chr2:37035700G>A	ENST00000379242.3	+	15	1777	c.1475G>A	c.(1474-1476)cGg>cAg	p.R492Q	VIT_ENST00000404084.1_Missense_Mutation_p.R429Q|VIT_ENST00000497382.1_Missense_Mutation_p.R146Q|VIT_ENST00000379241.3_Missense_Mutation_p.R455Q|VIT_ENST00000389975.3_Missense_Mutation_p.R477Q|VIT_ENST00000401530.1_Missense_Mutation_p.R456Q	NM_053276.3	NP_444506.2	Q6UXI7	VITRN_HUMAN	vitrin	477						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)				CTGGTGAAGCGGGTCTGCGAC	0.612													17	23					0	0	1	0	0	A	37035700	G	A	37035700	3	1	506	1	0	0	0	0	1	0	0	0	17231	1116	39	1	1654	1	VIT	2	37035700	Missense_Mutation	SNP	G	TCGA-WH-A86K-01A-11D-A36O-08	11565144	37035700	206163673	5	38166											
LYG2	254773	broad.mit.edu	37	2	99863226	99863226	+	Missense_Mutation	SNP	C	C	T			TCGA-WH-A86K-01A-11D-A36O-08	TCGA-WH-A86K-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bdfdc5a-8ddf-423d-80c3-d5c5e8941145	ed670b4f-21e6-4c0b-b12c-39158a1921b6	g.chr2:99863226C>T	ENST00000409679.1	-	3	245	c.101G>A	c.(100-102)cGc>cAc	p.R34H	LYG2_ENST00000423800.1_Missense_Mutation_p.R34H|LYG2_ENST00000409238.1_Missense_Mutation_p.R34H|LYG2_ENST00000333017.2_Missense_Mutation_p.R34H			Q86SG7	LYG2_HUMAN	lysozyme G-like 2	34					cell wall macromolecule catabolic process|peptidoglycan catabolic process	extracellular region	lysozyme activity			large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(1)|stomach(1)	12						GTGGTACAGGCGTGGATGTAG	0.512													17	50					0	0	1	0	0	T	99863226	C	T	99863226	3	4	506	1	0	0	0	0	1	0	0	0	9151	768	27	1	553	1	LYG2	2	99863226	Missense_Mutation	SNP	C	TCGA-WH-A86K-01A-11D-A36O-08	62827526	99863226	143336147	6	38167											
IL18R1	8809	broad.mit.edu	37	2	102992417	102992417	+	Missense_Mutation	SNP	G	G	T			TCGA-WH-A86K-01A-11D-A36O-08	TCGA-WH-A86K-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bdfdc5a-8ddf-423d-80c3-d5c5e8941145	ed670b4f-21e6-4c0b-b12c-39158a1921b6	g.chr2:102992417G>T	ENST00000409599.1	+	6	875	c.519G>T	c.(517-519)aaG>aaT	p.K173N	IL18R1_ENST00000233957.1_Missense_Mutation_p.K173N			Q13478	IL18R_HUMAN	interleukin 18 receptor 1	173	Ig-like C2-type 2.				innate immune response	integral to membrane|plasma membrane	interleukin-1 receptor activity			breast(1)|endometrium(3)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						CGATAAAGAAGAACGCCGAGT	0.313													15	39					1.15088e-07	1.21858e-07	1	1	0	T	102992417	G	T	102992417	3	4	506	1	0	0	0	0	1	0	0	0	7691	933	33	4	533	4	IL18R1	2	102992417	Missense_Mutation	SNP	G	TCGA-WH-A86K-01A-11D-A36O-08	3129191	102992417	140206956	7	38168											
RANBP2	5903	broad.mit.edu	37	2	109365547	109365547	+	Missense_Mutation	SNP	G	G	A			TCGA-WH-A86K-01A-11D-A36O-08	TCGA-WH-A86K-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bdfdc5a-8ddf-423d-80c3-d5c5e8941145	ed670b4f-21e6-4c0b-b12c-39158a1921b6	g.chr2:109365547G>A	ENST00000283195.6	+	9	1361	c.1235G>A	c.(1234-1236)cGa>cAa	p.R412Q		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	412					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						ATTGATGTACGAGAACCAGAG	0.373													38	210					0	0	1	0	0	A	109365547	G	A	109365547	3	1	506	1	0	0	0	0	1	0	0	0	13080	1058	37	1	1269	1	RANBP2	2	109365547	Missense_Mutation	SNP	G	TCGA-WH-A86K-01A-11D-A36O-08	6373130	109365547	133833826	8	38169											
MDH1B	130752	broad.mit.edu	37	2	207615788	207615788	+	Missense_Mutation	SNP	C	C	T			TCGA-WH-A86K-01A-11D-A36O-08	TCGA-WH-A86K-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bdfdc5a-8ddf-423d-80c3-d5c5e8941145	ed670b4f-21e6-4c0b-b12c-39158a1921b6	g.chr2:207615788C>T	ENST00000374412.3	-	6	1197	c.922G>A	c.(922-924)Gtg>Atg	p.V308M	MDH1B_ENST00000449792.1_Missense_Mutation_p.V210M|MDH1B_ENST00000392214.2_Intron|MDH1B_ENST00000454776.2_Missense_Mutation_p.V308M	NM_001039845.1|NM_001282940.1	NP_001034934.1|NP_001269869.1	Q5I0G3	MDH1B_HUMAN	malate dehydrogenase 1B, NAD (soluble)	308					carbohydrate metabolic process|malate metabolic process|tricarboxylic acid cycle		binding|malate dehydrogenase activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(14)|ovary(4)|stomach(1)	34				LUSC - Lung squamous cell carcinoma(261;0.0763)|Epithelial(149;0.131)|Lung(261;0.145)		CAAATGATCACGTCTTTAATG	0.323													17	34					0	0	1	0	0	T	207615788	C	T	207615788	3	4	506	1	0	0	0	0	1	0	0	0	9459	536	19	1	662	1	MDH1B	2	207615788	Missense_Mutation	SNP	C	TCGA-WH-A86K-01A-11D-A36O-08	98250241	207615788	35583585	9	38170											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-WH-A86K-01A-11D-A36O-08	TCGA-WH-A86K-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bdfdc5a-8ddf-423d-80c3-d5c5e8941145	ed670b4f-21e6-4c0b-b12c-39158a1921b6	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	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								27	44					0	0	1	0	0	T	209113112	C	T	209113112	3	4	506	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-WH-A86K-01A-11D-A36O-08	1497324	209113112	34086261	10	38171											
CPNE9	151835	broad.mit.edu	37	3	9768379	9768379	+	Missense_Mutation	SNP	G	G	A			TCGA-WH-A86K-01A-11D-A36O-08	TCGA-WH-A86K-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bdfdc5a-8ddf-423d-80c3-d5c5e8941145	ed670b4f-21e6-4c0b-b12c-39158a1921b6	g.chr3:9768379G>A	ENST00000383832.3	+	19	1565	c.1375G>A	c.(1375-1377)Gtc>Atc	p.V459I	CPNE9_ENST00000383831.3_Missense_Mutation_p.V459I	NM_153635.2	NP_705899.2	Q8IYJ1	CPNE9_HUMAN	copine family member IX	459	VWFA.							p.V459I(2)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	16	Medulloblastoma(99;0.227)					TATCATTATCGTCGGTGTAGG	0.547													23	54					0	0	1	0	0	A	9768379	G	A	9768379	3	1	506	1	0	0	0	0	1	0	0	0	3842	1145	40	1	1445	1	CPNE9	3	9768379	Missense_Mutation	SNP	G	TCGA-WH-A86K-01A-11D-A36O-08		9768379	188254051	11	38172											
TNIK	23043	broad.mit.edu	37	3	170928956	170928956	+	Frame_Shift_Del	DEL	G	G	-			TCGA-WH-A86K-01A-11D-A36O-08	TCGA-WH-A86K-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bdfdc5a-8ddf-423d-80c3-d5c5e8941145	ed670b4f-21e6-4c0b-b12c-39158a1921b6	g.chr3:170928956delG	ENST00000436636.2	-	4	599	c.255delC	c.(253-255)tacfs	p.Y86fs	TNIK_ENST00000369326.5_Frame_Shift_Del_p.Y86fs|TNIK_ENST00000475336.1_Frame_Shift_Del_p.Y86fs|TNIK_ENST00000284483.8_Frame_Shift_Del_p.Y86fs|TNIK_ENST00000538048.1_Frame_Shift_Del_p.Y86fs|TNIK_ENST00000470834.1_Frame_Shift_Del_p.Y86fs|TNIK_ENST00000488470.1_Frame_Shift_Del_p.Y86fs|TNIK_ENST00000341852.6_Frame_Shift_Del_p.Y86fs|TNIK_ENST00000460047.1_Frame_Shift_Del_p.Y86fs|TNIK_ENST00000357327.5_Frame_Shift_Del_p.Y86fs	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	86	Protein kinase.				actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			AAGCACCATAGTATGTAGCAA	0.338													17	30	---	---	---	---						-	170928956	G	-	170928956	7	5	506	1	0	1	0	1	0	0	0	0	16373	1024	36	0	3947	0	TNIK	3	170928956	Frame_Shift_Del	DEL	G	TCGA-WH-A86K-01A-11D-A36O-08	161160577	170928956	27093474	12	38173											
HMGCS1	3157	broad.mit.edu	37	5	43298628	43298628	+	Missense_Mutation	SNP	G	G	C			TCGA-WH-A86K-01A-11D-A36O-08	TCGA-WH-A86K-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bdfdc5a-8ddf-423d-80c3-d5c5e8941145	ed670b4f-21e6-4c0b-b12c-39158a1921b6	g.chr5:43298628G>C	ENST00000325110.6	-	3	646	c.440C>G	c.(439-441)tCt>tGt	p.S147C	HMGCS1_ENST00000433297.2_Missense_Mutation_p.S147C	NM_001098272.2	NP_001091742.1	Q01581	HMCS1_HUMAN	3-hydroxy-3-methylglutaryl-CoA synthase 1 (soluble)	147					cholesterol biosynthetic process|isoprenoid biosynthetic process	cytosol|soluble fraction	hydroxymethylglutaryl-CoA synthase activity			NS(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|stomach(1)|urinary_tract(1)	15						ACCATCCCAAGAGCTGGACTC	0.428													4	57					0	0	1	0	0	C	43298628	G	C	43298628	3	2	506	1	0	0	0	0	1	0	0	0	7273	942	33	4	1158	4	HMGCS1	5	43298628	Missense_Mutation	SNP	G	TCGA-WH-A86K-01A-11D-A36O-08		43298628	137616632	13	38174											
DSP	1832	broad.mit.edu	37	6	7581050	7581050	+	Nonsense_Mutation	SNP	G	G	T			TCGA-WH-A86K-01A-11D-A36O-08	TCGA-WH-A86K-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bdfdc5a-8ddf-423d-80c3-d5c5e8941145	ed670b4f-21e6-4c0b-b12c-39158a1921b6	g.chr6:7581050G>T	ENST00000379802.3	+	23	4968	c.4627G>T	c.(4627-4629)Gaa>Taa	p.E1543*	DSP_ENST00000418664.2_Intron	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	1543	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		GATCGACTATGAAAGGGTTTC	0.507													33	53					9.45814e-24	1.02148e-23	1	1	0	T	7581050	G	T	7581050	4	4	506	1	0	0	0	0	0	1	0	0	4807	1291	45	5	4717	5	DSP	6	7581050	Nonsense_Mutation	SNP	G	TCGA-WH-A86K-01A-11D-A36O-08		7581050	163534017	14	38175											
TRIM38	10475	broad.mit.edu	37	6	25967064	25967064	+	Missense_Mutation	SNP	A	A	T			TCGA-WH-A86K-01A-11D-A36O-08	TCGA-WH-A86K-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bdfdc5a-8ddf-423d-80c3-d5c5e8941145	ed670b4f-21e6-4c0b-b12c-39158a1921b6	g.chr6:25967064A>T	ENST00000357085.3	+	3	790	c.314A>T	c.(313-315)gAa>gTa	p.E105V	TRIM38_ENST00000349458.3_Missense_Mutation_p.E105V	NM_006355.3	NP_006346.1	O00635	TRI38_HUMAN	tripartite motif containing 38	105					positive regulation of I-kappaB kinase/NF-kappaB cascade	intracellular	signal transducer activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	23						CTGTTCTGCGAAGACGAGGGG	0.562													18	21					0	0	1	0	0	T	25967064	A	T	25967064	3	4	506	1	0	0	0	0	1	0	0	0	16573	246	9	5	316	5	TRIM38	6	25967064	Missense_Mutation	SNP	A	TCGA-WH-A86K-01A-11D-A36O-08	18386014	25967064	145148003	15	38176											
HIST1H4G	8369	broad.mit.edu	37	6	26247132	26247132	+	Missense_Mutation	SNP	T	T	C			TCGA-WH-A86K-01A-11D-A36O-08	TCGA-WH-A86K-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bdfdc5a-8ddf-423d-80c3-d5c5e8941145	ed670b4f-21e6-4c0b-b12c-39158a1921b6	g.chr6:26247132T>C	ENST00000244537.4	-	1	127	c.74A>G	c.(73-75)gAt>gGt	p.D25G		NM_003547.2	NP_003538.1	Q99525	H4G_HUMAN	histone cluster 1, H4g	25					nucleosome assembly	nucleosome|nucleus	DNA binding			breast(1)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	7		all_hematologic(11;0.0945)|Acute lymphoblastic leukemia(11;0.167)				CTGAATATTATCGCTCAGTAC	0.547													14	29					0	0	1	0	0	C	26247132	T	C	26247132	3	2	506	1	0	0	0	0	1	0	0	0	7212	1435	50	3	226	3	HIST1H4G	6	26247132	Missense_Mutation	SNP	T	TCGA-WH-A86K-01A-11D-A36O-08	280068	26247132	144867935	16	38177											
CCT6A	908	broad.mit.edu	37	7	56127963	56127967	+	Splice_Site	DEL	GAGAA	GAGAA	-			TCGA-WH-A86K-01A-11D-A36O-08	TCGA-WH-A86K-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bdfdc5a-8ddf-423d-80c3-d5c5e8941145	ed670b4f-21e6-4c0b-b12c-39158a1921b6	g.chr7:56127963_56127967delGAGAA	ENST00000275603.4	+	10	1286_1290	c.1067_1071delGAGAA	c.(1066-1071)ggagaa>g	p.GE356fs	CCT6A_ENST00000540286.1_Splice_Site_p.GE325fs|CCT6A_ENST00000335503.3_Splice_Site_p.GE311fs	NM_001762.3	NP_001753.1	P40227	TCPZ_HUMAN	chaperonin containing TCP1, subunit 6A (zeta 1)	356					'de novo' posttranslational protein folding	cytosol	ATP binding|unfolded protein binding			breast(1)|cervix(2)|endometrium(1)|large_intestine(4)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)	15	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			TACACATAGGGAGAAGAGAAGTTTA	0.361													11	37	---	---	---	---						-	56127967	GAGAA	-	56127963	8	5	506	1	0	1	0	1	0	0	1	0	2979	1188	41	0	1105	0	CCT6A	7	56127963	Splice_Site	DEL	GAGAA	TCGA-WH-A86K-01A-11D-A36O-08		56127963	103010700	17	38178											
CLIP2	7461	broad.mit.edu	37	7	73768332	73768332	+	Silent	SNP	C	C	A			TCGA-WH-A86K-01A-11D-A36O-08	TCGA-WH-A86K-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bdfdc5a-8ddf-423d-80c3-d5c5e8941145	ed670b4f-21e6-4c0b-b12c-39158a1921b6	g.chr7:73768332C>A	ENST00000223398.6	+	4	1128	c.801C>A	c.(799-801)acC>acA	p.T267T	CLIP2_ENST00000395060.1_Silent_p.T267T|CLIP2_ENST00000361545.5_Silent_p.T267T	NM_003388.4	NP_003379	Q9UDT6	CLIP2_HUMAN	CAP-GLY domain containing linker protein 2	267	CAP-Gly 2.					microtubule associated complex				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						TGGCGGGCACCAGGTATGGTG	0.647													47	63					3.21987e-24	3.54843e-24	1	1	0	A	73768332	C	A	73768332	2	1	506	1	0	0	0	0	0	0	0	1	3556	581	21	5		5	CLIP2	7	73768332	Silent	SNP	C	TCGA-WH-A86K-01A-11D-A36O-08	17640369	73768332	85370331	18	38179											
XKR4	114786	broad.mit.edu	37	8	56270245	56270245	+	Missense_Mutation	SNP	C	C	T			TCGA-WH-A86K-01A-11D-A36O-08	TCGA-WH-A86K-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bdfdc5a-8ddf-423d-80c3-d5c5e8941145	ed670b4f-21e6-4c0b-b12c-39158a1921b6	g.chr8:56270245C>T	ENST00000327381.6	+	2	914	c.814C>T	c.(814-816)Cac>Tac	p.H272Y		NM_052898.1	NP_443130.1	Q5GH76	XKR4_HUMAN	XK, Kell blood group complex subunit-related family, member 4							integral to membrane				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34			Epithelial(17;0.000117)|all cancers(17;0.000836)			TAGATATTTCCACACAATATA	0.383													5	44					0	0	1	0	0	T	56270245	C	T	56270245	3	4	506	1	0	0	0	0	1	0	0	0	17493	594	21	2	820	2	XKR4	8	56270245	Missense_Mutation	SNP	C	TCGA-WH-A86K-01A-11D-A36O-08		56270245	90093777	19	38180											
CYP7B1	9420	broad.mit.edu	37	8	65527680	65527680	+	Silent	SNP	G	G	A			TCGA-WH-A86K-01A-11D-A36O-08	TCGA-WH-A86K-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bdfdc5a-8ddf-423d-80c3-d5c5e8941145	ed670b4f-21e6-4c0b-b12c-39158a1921b6	g.chr8:65527680G>A	ENST00000310193.3	-	4	1133	c.960C>T	c.(958-960)gaC>gaT	p.D320D	CYP7B1_ENST00000523954.1_5'UTR	NM_004820.3	NP_004811.1	O75881	CP7B1_HUMAN	cytochrome P450, family 7, subfamily B, polypeptide 1	320					bile acid biosynthetic process|cell death|cholesterol metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	25-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity	p.D320D(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215)				GGTCAATTTCGTCACGCACTG	0.488													19	28					0	0	1	0	0	A	65527680	G	A	65527680	2	1	506	1	0	0	0	0	0	0	0	1	4220	1136	40	1		1	CYP7B1	8	65527680	Silent	SNP	G	TCGA-WH-A86K-01A-11D-A36O-08	9257435	65527680	80836342	20	38181											
ARFGEF1	10565	broad.mit.edu	37	8	68139489	68139489	+	Missense_Mutation	SNP	G	G	C			TCGA-WH-A86K-01A-11D-A36O-08	TCGA-WH-A86K-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bdfdc5a-8ddf-423d-80c3-d5c5e8941145	ed670b4f-21e6-4c0b-b12c-39158a1921b6	g.chr8:68139489G>C	ENST00000262215.3	-	27	4188	c.3799C>G	c.(3799-3801)Caa>Gaa	p.Q1267E	ARFGEF1_ENST00000518230.1_Missense_Mutation_p.Q105E|ARFGEF1_ENST00000520381.1_Missense_Mutation_p.Q721E	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	1267					exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			TTAGCAGCTTGAGAATTAACC	0.363													35	63					0	0	1	0	0	C	68139489	G	C	68139489	3	2	506	1	0	0	0	0	1	0	0	0	849	1299	45	5	1802	5	ARFGEF1	8	68139489	Missense_Mutation	SNP	G	TCGA-WH-A86K-01A-11D-A36O-08	2611809	68139489	78224533	21	38182											
SOHLH1	402381	broad.mit.edu	37	9	138589409	138589409	+	Missense_Mutation	SNP	G	G	A			TCGA-WH-A86K-01A-11D-A36O-08	TCGA-WH-A86K-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bdfdc5a-8ddf-423d-80c3-d5c5e8941145	ed670b4f-21e6-4c0b-b12c-39158a1921b6	g.chr9:138589409G>A	ENST00000298466.5	-	4	470	c.410C>T	c.(409-411)tCg>tTg	p.S137L	SOHLH1_ENST00000425225.1_Missense_Mutation_p.S137L	NM_001012415.2	NP_001012415	Q5JUK2	SOLH1_HUMAN	spermatogenesis and oogenesis specific basic helix-loop-helix 1	137					cell differentiation|multicellular organismal development|oogenesis|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(5)|prostate(1)	12		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.66e-07)|Epithelial(140;1.11e-06)|all cancers(34;6.45e-05)		AATCTGACTCGACAACGTCAA	0.527													5	22					0	0	1	0	0	A	138589409	G	A	138589409	3	1	506	1	0	0	0	0	1	0	0	0	14977	1059	37	1	814	1	SOHLH1	9	138589409	Missense_Mutation	SNP	G	TCGA-WH-A86K-01A-11D-A36O-08		138589409	2624022	22	38183											
DUSP13	51207	broad.mit.edu	37	10	76854454	76854454	+	Missense_Mutation	SNP	G	G	A	rs141915692	by1000genomes	TCGA-WH-A86K-01A-11D-A36O-08	TCGA-WH-A86K-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bdfdc5a-8ddf-423d-80c3-d5c5e8941145	ed670b4f-21e6-4c0b-b12c-39158a1921b6	g.chr10:76854454G>A	ENST00000491677.2	-	8	1506	c.964C>T	c.(964-966)Cgg>Tgg	p.R322W	DUSP13_ENST00000372702.3_3'UTR|DUSP13_ENST00000607131.1_Missense_Mutation_p.R286W|DUSP13_ENST00000605915.1_Missense_Mutation_p.R215W|DUSP13_ENST00000464872.1_Missense_Mutation_p.R142W|DUSP13_ENST00000478873.2_Missense_Mutation_p.R329W|DUSP13_ENST00000372700.3_Missense_Mutation_p.R243W|DUSP13_ENST00000472493.2_Missense_Mutation_p.R193W	NM_001007271.1	NP_001007272.1	Q6B8I1	MDSP_HUMAN	dual specificity phosphatase 13	0						cytoplasm	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	8	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					CCCGTCTCCCGCCCCAGTCGG	0.647													14	20					0	0	1	0	0	A	76854454	G	A	76854454	3	1	506	1	0	0	0	0	1	0	0	0	4839	1086	38	1	23	1	DUSP13	10	76854454	Missense_Mutation	SNP	G	TCGA-WH-A86K-01A-11D-A36O-08		76854454	58680293	23	38184											
FAM35A	54537	broad.mit.edu	37	10	88950272	88950272	+	Silent	SNP	C	C	T			TCGA-WH-A86K-01A-11D-A36O-08	TCGA-WH-A86K-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bdfdc5a-8ddf-423d-80c3-d5c5e8941145	ed670b4f-21e6-4c0b-b12c-39158a1921b6	g.chr10:88950272C>T	ENST00000298786.4	+	10	2661	c.2547C>T	c.(2545-2547)gtC>gtT	p.V849V	FAM35A_ENST00000298784.1_Silent_p.V780V			Q86V20	FA35A_HUMAN	family with sequence similarity 35, member A	780										endometrium(2)|kidney(2)|large_intestine(5)|lung(1)|ovary(2)|prostate(2)|skin(2)	16						ATGGGATGGTCGTGGCAGACC	0.463													28	75					0	0	1	0	0	T	88950272	C	T	88950272	2	4	506	1	0	0	0	0	0	0	0	1	5589	871	31	1		1	FAM35A	10	88950272	Silent	SNP	C	TCGA-WH-A86K-01A-11D-A36O-08	12095818	88950272	46584475	24	38185											
FRG2B	441581	broad.mit.edu	37	10	135440109	135440109	+	Silent	SNP	G	G	A			TCGA-WH-A86K-01A-11D-A36O-08	TCGA-WH-A86K-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bdfdc5a-8ddf-423d-80c3-d5c5e8941145	ed670b4f-21e6-4c0b-b12c-39158a1921b6	g.chr10:135440109G>A	ENST00000443774.1	-	1	187	c.138C>T	c.(136-138)acC>acT	p.T46T	FRG2B_ENST00000425520.1_Silent_p.T46T			Q96QU4	FRG2B_HUMAN	FSHD region gene 2 family, member B	46						nucleus				endometrium(2)|kidney(2)|lung(14)|ovary(1)|prostate(1)	20		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)		GGGAGAAGGCGGTCTTGCCTT	0.507													22	32					0	0	1	0	0	A	135440109	G	A	135440109	2	1	506	1	0	0	0	0	0	0	0	1	6082	1103	39	1		1	FRG2B	10	135440109	Silent	SNP	G	TCGA-WH-A86K-01A-11D-A36O-08	46489837	135440109	94638	25	38186											
KRT1	3848	broad.mit.edu	37	12	53069171	53069171	+	Missense_Mutation	SNP	C	C	T			TCGA-WH-A86K-01A-11D-A36O-08	TCGA-WH-A86K-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bdfdc5a-8ddf-423d-80c3-d5c5e8941145	ed670b4f-21e6-4c0b-b12c-39158a1921b6	g.chr12:53069171C>T	ENST00000252244.3	-	9	1799	c.1741G>A	c.(1741-1743)Gga>Aga	p.G581R		NM_006121.3	NP_006112.3	P04264	K2C1_HUMAN	keratin 1	581	Gly/Ser-rich.|Tail.				complement activation, lectin pathway|epidermis development|fibrinolysis|regulation of angiogenesis|response to oxidative stress	plasma membrane	protein binding|receptor activity|structural constituent of cytoskeleton|sugar binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3)	39						ctgctgcttccggagccgtag	0.726													5	7					0	0	1	0	0	T	53069171	C	T	53069171	3	4	506	1	0	0	0	0	1	0	0	0	8490	661	23	1	197	1	KRT1	12	53069171	Missense_Mutation	SNP	C	TCGA-WH-A86K-01A-11D-A36O-08		53069171	80782724	26	38187											
ADCY4	196883	broad.mit.edu	37	14	24787935	24787935	+	Silent	SNP	C	C	T			TCGA-WH-A86K-01A-11D-A36O-08	TCGA-WH-A86K-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bdfdc5a-8ddf-423d-80c3-d5c5e8941145	ed670b4f-21e6-4c0b-b12c-39158a1921b6	g.chr14:24787935C>T	ENST00000310677.4	-	25	3119	c.3006G>A	c.(3004-3006)ccG>ccA	p.P1002P	ADCY4_ENST00000418030.2_Silent_p.P1002P|ADCY4_ENST00000554068.2_Silent_p.P1002P	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	1002					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding|protein binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(265;0.0192)		TGTCATATTGCGGCTTCTGGG	0.522													31	42					0	0	1	0	0	T	24787935	C	T	24787935	2	4	506	1	0	0	0	0	0	0	0	1	295	755	27	1		1	ADCY4	14	24787935	Silent	SNP	C	TCGA-WH-A86K-01A-11D-A36O-08		24787935	82561605	27	38188											
PDE8A	5151	broad.mit.edu	37	15	85669478	85669478	+	Missense_Mutation	SNP	G	G	A			TCGA-WH-A86K-01A-11D-A36O-08	TCGA-WH-A86K-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bdfdc5a-8ddf-423d-80c3-d5c5e8941145	ed670b4f-21e6-4c0b-b12c-39158a1921b6	g.chr15:85669478G>A	ENST00000310298.4	+	21	2378	c.2126G>A	c.(2125-2127)aGg>aAg	p.R709K	PDE8A_ENST00000339708.5_Missense_Mutation_p.R663K|PDE8A_ENST00000394553.1_Missense_Mutation_p.R709K|PDE8A_ENST00000557957.1_Missense_Mutation_p.R637K			O60658	PDE8A_HUMAN	phosphodiesterase 8A	709	Catalytic (By similarity).				cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	25	Colorectal(223;0.227)		BRCA - Breast invasive adenocarcinoma(143;0.0608)			ACTATGCTTAGGACTCCAGAG	0.468													10	51					0	0	1	0	0	A	85669478	G	A	85669478	3	1	506	1	0	0	0	0	1	0	0	0	11700	1000	35	2	2204	2	PDE8A	15	85669478	Missense_Mutation	SNP	G	TCGA-WH-A86K-01A-11D-A36O-08		85669478	16861914	28	38189											
MSLN	10232	broad.mit.edu	37	16	812765	812765	+	Splice_Site	SNP	G	G	A			TCGA-WH-A86K-01A-11D-A36O-08	TCGA-WH-A86K-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bdfdc5a-8ddf-423d-80c3-d5c5e8941145	ed670b4f-21e6-4c0b-b12c-39158a1921b6	g.chr16:812765G>A	ENST00000566549.1	+	2	502	c.85G>A	c.(85-87)Gga>Aga	p.G29R	MSLN_ENST00000545450.2_Splice_Site_p.G29R|MSLN_ENST00000382862.3_Splice_Site_p.G29R|MSLN_ENST00000563941.1_Splice_Site_p.G29R			Q13421	MSLN_HUMAN	mesothelin	29					cell adhesion	anchored to membrane|extracellular region|Golgi apparatus|plasma membrane				breast(2)|kidney(2)|lung(11)|pancreas(1)|prostate(1)|skin(3)	20		Hepatocellular(780;0.00335)				CTTCAGCCTCGGTGCGTACTT	0.682													36	49					0	0	1	0	0	A	812765	G	A	812765	5	1	506	1	0	0	0	0	0	0	1	0	9929	1130	39	1	87	1	MSLN	16	812765	Splice_Site	SNP	G	TCGA-WH-A86K-01A-11D-A36O-08		812765	89541988	29	38190											
TMC5	79838	broad.mit.edu	37	16	19451395	19451395	+	Missense_Mutation	SNP	A	A	G			TCGA-WH-A86K-01A-11D-A36O-08	TCGA-WH-A86K-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bdfdc5a-8ddf-423d-80c3-d5c5e8941145	ed670b4f-21e6-4c0b-b12c-39158a1921b6	g.chr16:19451395A>G	ENST00000396229.2	+	3	784	c.35A>G	c.(34-36)gAa>gGa	p.E12G	TMC5_ENST00000542583.2_Missense_Mutation_p.E12G|TMC5_ENST00000381414.4_Missense_Mutation_p.E12G|TMC5_ENST00000541464.1_Missense_Mutation_p.E12G	NM_001105248.1	NP_001098718.1	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5	12						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						TGGTCTGAGGAAGACCCAGAT	0.468													19	33					0	0	1	0	0	G	19451395	A	G	19451395	3	3	506	1	0	0	0	0	1	0	0	0	16048	246	9	3	37	3	TMC5	16	19451395	Missense_Mutation	SNP	A	TCGA-WH-A86K-01A-11D-A36O-08	18638630	19451395	70903358	30	38191											
PKD1L2	114780	broad.mit.edu	37	16	81236151	81236151	+	RNA	SNP	A	A	G			TCGA-WH-A86K-01A-11D-A36O-08	TCGA-WH-A86K-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bdfdc5a-8ddf-423d-80c3-d5c5e8941145	ed670b4f-21e6-4c0b-b12c-39158a1921b6	g.chr16:81236151A>G	ENST00000337114.4	-	0	1096				PKD1L2_ENST00000525539.1_RNA	NM_001076780.1	NP_001070248.1	Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						ATCCCCAAAGACAGCCTGGCA	0.557													21	30					0	0	1	0	0	G	81236151	A	G	81236151	1	3	506	0	1	0	0	0	0	0	0	0	12013	275	10	3		3	PKD1L2	16	81236151	RNA	SNP	A	TCGA-WH-A86K-01A-11D-A36O-08	61784756	81236151	9118602	31	38192											
PRPF8	10594	broad.mit.edu	37	17	1578513	1578513	+	Missense_Mutation	SNP	C	C	T			TCGA-WH-A86K-01A-11D-A36O-08	TCGA-WH-A86K-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bdfdc5a-8ddf-423d-80c3-d5c5e8941145	ed670b4f-21e6-4c0b-b12c-39158a1921b6	g.chr17:1578513C>T	ENST00000572621.1	-	19	3258	c.2993G>A	c.(2992-2994)cGc>cAc	p.R998H	PRPF8_ENST00000304992.6_Missense_Mutation_p.R998H			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	998						catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding	p.R998P(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		CACGATGAGGCGCAGCAGCCT	0.512													27	47					0	0	1	0	0	T	1578513	C	T	1578513	3	4	506	1	0	0	0	0	1	0	0	0	12627	768	27	1	4110	1	PRPF8	17	1578513	Missense_Mutation	SNP	C	TCGA-WH-A86K-01A-11D-A36O-08		1578513	79616697	32	38193											
SLC16A11	162515	broad.mit.edu	37	17	6945197	6945197	+	Missense_Mutation	SNP	G	G	T			TCGA-WH-A86K-01A-11D-A36O-08	TCGA-WH-A86K-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bdfdc5a-8ddf-423d-80c3-d5c5e8941145	ed670b4f-21e6-4c0b-b12c-39158a1921b6	g.chr17:6945197G>T	ENST00000308009.1	-	4	1554	c.1217C>A	c.(1216-1218)aCc>aAc	p.T406N	SLC16A11_ENST00000447225.1_Missense_Mutation_p.T374N	NM_153357.1	NP_699188.1	Q8NCK7	MOT11_HUMAN	solute carrier family 16, member 11	406						integral to membrane|plasma membrane	symporter activity			endometrium(2)|kidney(2)|lung(2)|ovary(1)|skin(2)	9						GAAAGAGGCGGTGAAGTCTCC	0.572													6	13					0.0215528	0.0215528	1	1	0	T	6945197	G	T	6945197	3	4	506	1	0	0	0	0	1	0	0	0	14459	1261	44	5	202	5	SLC16A11	17	6945197	Missense_Mutation	SNP	G	TCGA-WH-A86K-01A-11D-A36O-08	5366684	6945197	74250013	33	38194											
TP53	7157	broad.mit.edu	37	17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	rs121913343		TCGA-WH-A86K-01A-11D-A36O-08	TCGA-WH-A86K-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bdfdc5a-8ddf-423d-80c3-d5c5e8941145	ed670b4f-21e6-4c0b-b12c-39158a1921b6	g.chr17:7577121G>A	ENST00000420246.2	-	8	949	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000269305.4_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000445888.2_Missense_Mutation_p.R273C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	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).		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.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			10	9					0	0	1	0	0	A	7577121	G	A	7577121	3	1	506	1	0	0	0	0	1	0	0	0	16442	1087	38	1	469	1	TP53	17	7577121	Missense_Mutation	SNP	G	TCGA-WH-A86K-01A-11D-A36O-08	631924	7577121	73618089	34	38195											
TP53	7157	broad.mit.edu	37	17	7578190	7578190	+	Missense_Mutation	SNP	T	T	C	rs121912666		TCGA-WH-A86K-01A-11D-A36O-08	TCGA-WH-A86K-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bdfdc5a-8ddf-423d-80c3-d5c5e8941145	ed670b4f-21e6-4c0b-b12c-39158a1921b6	g.chr17:7578190T>C	ENST00000420246.2	-	6	791	c.659A>G	c.(658-660)tAt>tGt	p.Y220C	TP53_ENST00000574684.1_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.Y220C|TP53_ENST00000269305.4_Missense_Mutation_p.Y220C|TP53_ENST00000413465.2_Missense_Mutation_p.Y220C|TP53_ENST00000359597.4_Missense_Mutation_p.Y220C|TP53_ENST00000445888.2_Missense_Mutation_p.Y220C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	220	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 a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.Y220C(278)|p.Y127C(24)|p.Y220S(12)|p.?(11)|p.0?(8)|p.D208fs*1(1)|p.Y220_P223delYEPP(1)|p.V218_E224delVPYEPPE(1)|p.V218_E221delVPYE(1)|p.Y127S(1)|p.V218_Y220delVPY(1)|p.Y220fs*25(1)|p.V216_Y220delVVVPY(1)|p.Y220fs*2(1)|p.V218fs*26(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)		AGGCGGCTCATAGGGCACCAC	0.557		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)			10	18					0	0	1	0	0	C	7578190	T	C	7578190	3	2	506	1	0	0	0	0	1	0	0	0	16442	1406	49	3	635	3	TP53	17	7578190	Missense_Mutation	SNP	T	TCGA-WH-A86K-01A-11D-A36O-08	1069	7578190	73617020	35	38196											
UNC45B	146862	broad.mit.edu	37	17	33495212	33495212	+	Silent	SNP	A	A	T			TCGA-WH-A86K-01A-11D-A36O-08	TCGA-WH-A86K-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bdfdc5a-8ddf-423d-80c3-d5c5e8941145	ed670b4f-21e6-4c0b-b12c-39158a1921b6	g.chr17:33495212A>T	ENST00000268876.5	+	10	1381	c.1284A>T	c.(1282-1284)gcA>gcT	p.A428A	UNC45B_ENST00000378449.1_Silent_p.A428A|UNC45B_ENST00000394570.2_Silent_p.A428A|UNC45B_ENST00000433649.1_Silent_p.A428A|UNC45B_ENST00000591048.1_Silent_p.A428A	NM_173167.2	NP_775259.1	Q8IWX7	UN45B_HUMAN	unc-45 homolog B (C. elegans)	428					cell differentiation|muscle organ development	cytosol	binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				TGATGGTGGCACTATGTGGCT	0.597													23	31					0	0	1	0	0	T	33495212	A	T	33495212	2	4	506	1	0	0	0	0	0	0	0	1	17049	146	6	5		5	UNC45B	17	33495212	Silent	SNP	A	TCGA-WH-A86K-01A-11D-A36O-08	25917022	33495212	47699998	36	38197											
CDC27	996	broad.mit.edu	37	17	45214654	45214654	+	Missense_Mutation	SNP	C	C	T			TCGA-WH-A86K-01A-11D-A36O-08	TCGA-WH-A86K-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bdfdc5a-8ddf-423d-80c3-d5c5e8941145	ed670b4f-21e6-4c0b-b12c-39158a1921b6	g.chr17:45214654C>T	ENST00000066544.3	-	14	1870	c.1777G>A	c.(1777-1779)Gct>Act	p.A593T	CDC27_ENST00000531206.1_Missense_Mutation_p.A599T|CDC27_ENST00000527547.1_Missense_Mutation_p.A592T|CDC27_ENST00000446365.2_Missense_Mutation_p.A532T	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	593					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						ACTTGGATAGCTCTCTGGAAG	0.388													3	28					0	0	1	0	0	T	45214654	C	T	45214654	3	4	506	1	0	0	0	0	1	0	0	0	3088	797	28	2	721	2	CDC27	17	45214654	Missense_Mutation	SNP	C	TCGA-WH-A86K-01A-11D-A36O-08	11719442	45214654	35980556	37	38198											
FADS6	283985	broad.mit.edu	37	17	72875555	72875555	+	Silent	SNP	G	G	C			TCGA-WH-A86K-01A-11D-A36O-08	TCGA-WH-A86K-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bdfdc5a-8ddf-423d-80c3-d5c5e8941145	ed670b4f-21e6-4c0b-b12c-39158a1921b6	g.chr17:72875555G>C	ENST00000310226.6	-	5	899	c.885C>G	c.(883-885)ctC>ctG	p.L295L		NM_178128.3	NP_835229.2	Q8N9I5	FADS6_HUMAN	fatty acid desaturase 6	301					fatty acid biosynthetic process	integral to membrane	oxidoreductase activity			endometrium(3)|kidney(1)|lung(4)	8	all_lung(278;0.172)|Lung NSC(278;0.207)					TGTTATCAGAGAGCCTGGGGA	0.602													6	35					0	0	1	0	0	C	72875555	G	C	72875555	2	2	506	1	0	0	0	0	0	0	0	1	5399	929	33	4		4	FADS6	17	72875555	Silent	SNP	G	TCGA-WH-A86K-01A-11D-A36O-08	27660901	72875555	8319655	38	38199											
LAMA1	284217	broad.mit.edu	37	18	7033055	7033055	+	Silent	SNP	G	G	A			TCGA-WH-A86K-01A-11D-A36O-08	TCGA-WH-A86K-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bdfdc5a-8ddf-423d-80c3-d5c5e8941145	ed670b4f-21e6-4c0b-b12c-39158a1921b6	g.chr18:7033055G>A	ENST00000389658.3	-	15	2184	c.2091C>T	c.(2089-2091)gcC>gcT	p.A697A		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	697	Laminin IV type A 1.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CCAGGTCGATGGCATTAGAGC	0.507													5	5					0	0	1	0	0	A	7033055	G	A	7033055	2	1	506	1	0	0	0	0	0	0	0	1	8644	1335	47	2		2	LAMA1	18	7033055	Silent	SNP	G	TCGA-WH-A86K-01A-11D-A36O-08		7033055	71044193	39	38200											
AZU1	566	broad.mit.edu	37	19	831865	831865	+	Silent	SNP	G	G	A			TCGA-WH-A86K-01A-11D-A36O-08	TCGA-WH-A86K-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bdfdc5a-8ddf-423d-80c3-d5c5e8941145	ed670b4f-21e6-4c0b-b12c-39158a1921b6	g.chr19:831865G>A	ENST00000233997.2	+	5	765	c.744G>A	c.(742-744)ccG>ccA	p.P248P		NM_001700.3	NP_001691.1	P20160	CAP7_HUMAN	azurocidin 1	248			Missing (in 50% of the molecules).		activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|cellular extravasation|defense response to Gram-negative bacterium|glial cell migration|induction of positive chemotaxis|inflammatory response|macrophage chemotaxis|microglial cell activation|monocyte activation|positive regulation of cell adhesion|positive regulation of fractalkine biosynthetic process|positive regulation of interleukin-1 beta biosynthetic process|positive regulation of MHC class II biosynthetic process|positive regulation of phagocytosis|positive regulation of tumor necrosis factor biosynthetic process|proteolysis|regulation of vascular permeability	azurophil granule|extracellular region	heparin binding|serine-type endopeptidase activity|toxin binding			NS(1)|endometrium(1)|kidney(1)|lung(4)|pancreas(1)|upper_aerodigestive_tract(2)	10		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)		ACCCGGGACCGGGGCCAGCCT	0.711													20	40					0	0	1	0	0	A	831865	G	A	831865	2	1	506	1	0	0	0	0	0	0	0	1	1241	1103	39	1		1	AZU1	19	831865	Silent	SNP	G	TCGA-WH-A86K-01A-11D-A36O-08		831865	58297118	40	38201											
MEGF8	1954	broad.mit.edu	37	19	42873083	42873083	+	Silent	SNP	C	C	T			TCGA-WH-A86K-01A-11D-A36O-08	TCGA-WH-A86K-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bdfdc5a-8ddf-423d-80c3-d5c5e8941145	ed670b4f-21e6-4c0b-b12c-39158a1921b6	g.chr19:42873083C>T	ENST00000334370.4	+	36	7004	c.6369C>T	c.(6367-6369)aaC>aaT	p.N2123N	MEGF8_ENST00000251268.6_Silent_p.N2190N	NM_001410.2	NP_001401.2	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	2190	PSI 7.					integral to membrane	calcium ion binding|structural molecule activity			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				ACGACTGCAACGAGACGCAGA	0.672													26	45					0	0	1	0	0	T	42873083	C	T	42873083	2	4	506	1	0	0	0	0	0	0	0	1	9513	535	19	1		1	MEGF8	19	42873083	Silent	SNP	C	TCGA-WH-A86K-01A-11D-A36O-08	42041218	42873083	16255900	41	38202											
SYT3	84258	broad.mit.edu	37	19	51132650	51132650	+	Silent	SNP	C	C	T			TCGA-WH-A86K-01A-11D-A36O-08	TCGA-WH-A86K-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bdfdc5a-8ddf-423d-80c3-d5c5e8941145	ed670b4f-21e6-4c0b-b12c-39158a1921b6	g.chr19:51132650C>T	ENST00000338916.4	-	4	1815	c.1182G>A	c.(1180-1182)cgG>cgA	p.R394R	SYT3_ENST00000593901.1_Silent_p.R394R|SYT3_ENST00000600079.1_Silent_p.R394R|SYT3_ENST00000544769.1_Silent_p.R394R	NM_032298.2	NP_115674.1	Q9BQG1	SYT3_HUMAN	synaptotagmin III	394	C2 1.					cell junction|endosome|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(2)|skin(3)|urinary_tract(2)	35		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188)		TGAGGTCGTGCCGCGAGAAGC	0.642													3	25					0	0	1	0	0	T	51132650	C	T	51132650	2	4	506	1	0	0	0	0	0	0	0	1	15532	726	26	2		2	SYT3	19	51132650	Silent	SNP	C	TCGA-WH-A86K-01A-11D-A36O-08	8259567	51132650	7996333	42	38203											
ZNF808	388558	broad.mit.edu	37	19	53057655	53057655	+	Missense_Mutation	SNP	T	T	C			TCGA-WH-A86K-01A-11D-A36O-08	TCGA-WH-A86K-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bdfdc5a-8ddf-423d-80c3-d5c5e8941145	ed670b4f-21e6-4c0b-b12c-39158a1921b6	g.chr19:53057655T>C	ENST00000359798.4	+	5	1666	c.1486T>C	c.(1486-1488)Tca>Cca	p.S496P		NM_001039886.3	NP_001034975.2	Q8N4W9	ZN808_HUMAN	zinc finger protein 808	496					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(8)|kidney(3)|lung(12)|urinary_tract(1)	24				OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)		CAGCCGCAGGTCATCCCTTCT	0.458													42	72					0	0	1	0	0	C	53057655	T	C	53057655	3	2	506	1	0	0	0	0	1	0	0	0	18221	1667	58	3	1496	3	ZNF808	19	53057655	Missense_Mutation	SNP	T	TCGA-WH-A86K-01A-11D-A36O-08	1925005	53057655	6071328	43	38204											
MID2	11043	broad.mit.edu	37	X	107084269	107084269	+	Missense_Mutation	SNP	C	C	G			TCGA-WH-A86K-01A-11D-A36O-08	TCGA-WH-A86K-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bdfdc5a-8ddf-423d-80c3-d5c5e8941145	ed670b4f-21e6-4c0b-b12c-39158a1921b6	g.chrX:107084269C>G	ENST00000262843.6	+	2	922	c.374C>G	c.(373-375)aCt>aGt	p.T125S	MID2_ENST00000443968.2_Missense_Mutation_p.T125S	NM_012216.3|NM_052817.2	NP_036348.2|NP_438112.2	Q9UJV3	TRIM1_HUMAN	midline 2	125						centrosome|microtubule	ligase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)	19						CGGGAAAGGACTTACAGGCCC	0.537													15	7					0	0	1	0	0	G	107084269	C	G	107084269	3	3	506	1	0	0	0	0	1	0	0	0	9626	565	20	4	380	4	MID2	23	107084269	Missense_Mutation	SNP	C	TCGA-WH-A86K-01A-11D-A36O-08		107084269	48186291	44	38205											
CCDC27	148870	broad.mit.edu	37	1	3679740	3679740	+	Frame_Shift_Del	DEL	G	G	-			TCGA-WY-A858-01A-11D-A36O-08	TCGA-WY-A858-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4899f0-5237-4a0e-bdcc-8b88c02e4972	8d29a469-4eb5-4bf3-9577-3a8508544daf	g.chr1:3679740delG	ENST00000294600.2	+	7	1107	c.1023delG	c.(1021-1023)gagfs	p.E341fs		NM_152492.2	NP_689705.2	Q2M243	CCD27_HUMAN	coiled-coil domain containing 27	341	Glu-rich.									breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(2)|lung(17)|prostate(1)|skin(2)|urinary_tract(2)	36	all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218)	all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)		Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203)		AGGAGGACGAGGGCCTGGAAG	0.677													2	4	---	---	---	---						-	3679740	G	-	3679740	7	5	507	1	0	1	0	1	0	0	0	0	2820	991	35	0	1049	0	CCDC27	1	3679740	Frame_Shift_Del	DEL	G	TCGA-WY-A858-01A-11D-A36O-08		3679740	245570881	1	38206											
RAD54L	8438	broad.mit.edu	37	1	46743501	46743503	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-WY-A858-01A-11D-A36O-08	TCGA-WY-A858-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4899f0-5237-4a0e-bdcc-8b88c02e4972	8d29a469-4eb5-4bf3-9577-3a8508544daf	g.chr1:46743501_46743503delGAG	ENST00000371975.4	+	17	2556_2558	c.1882_1884delGAG	c.(1882-1884)gagdel	p.E629del	RAD54L_ENST00000442598.1_In_Frame_Del_p.E629del	NM_003579.3	NP_003570.2	Q92698	RAD54_HUMAN	RAD54-like (S. cerevisiae)	629	Helicase C-terminal.				meiosis	nucleus	ATP binding|DNA binding|helicase activity			breast(2)|cervix(1)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	25	Acute lymphoblastic leukemia(166;0.155)	Breast(1374;0.0634)		KIRC - Kidney renal clear cell carcinoma(1967;0.000896)		AGGGACCATTGAGGAGAAGATCT	0.527								Direct reversal of damage;Homologous recombination					8	53	---	---	---	---						-	46743503	GAG	-	46743501	7	5	507	1	0	1	0	1	0	0	0	0	13045	1291	45	0	1948	0	RAD54L	1	46743501	In_Frame_Del	DEL	GAG	TCGA-WY-A858-01A-11D-A36O-08	43063761	46743501	202507120	2	38207											
LGALS8	3964	broad.mit.edu	37	1	236700805	236700805	+	Silent	SNP	G	G	A			TCGA-WY-A858-01A-11D-A36O-08	TCGA-WY-A858-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4899f0-5237-4a0e-bdcc-8b88c02e4972	8d29a469-4eb5-4bf3-9577-3a8508544daf	g.chr1:236700805G>A	ENST00000526589.1	+	6	574	c.54G>A	c.(52-54)ccG>ccA	p.P18P	LGALS8_ENST00000352231.2_Silent_p.P18P|LGALS8_ENST00000526634.1_Silent_p.P18P|LGALS8_ENST00000416919.2_Silent_p.P18P|LGALS8_ENST00000366584.4_Silent_p.P18P|LGALS8_ENST00000341872.6_Silent_p.P18P|LGALS8_ENST00000527974.1_Silent_p.P18P|LGALS8_ENST00000323938.6_Silent_p.P18P|LGALS8_ENST00000450372.2_Silent_p.P18P|LGALS8_ENST00000525042.1_Silent_p.P18P			O00214	LEG8_HUMAN	lectin, galactoside-binding, soluble, 8	18						cytoplasm|extracellular space	sugar binding			kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(5)	20	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.0253)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			AGGTAATCCCGTTTGTTGGCA	0.368													29	36					0	0	1	0	0	A	236700805	G	A	236700805	2	1	507	1	0	0	0	0	0	0	0	1	8787	1132	40	1		1	LGALS8	1	236700805	Silent	SNP	G	TCGA-WY-A858-01A-11D-A36O-08	189957304	236700805	12549816	3	38208											
TTN	7273	broad.mit.edu	37	2	179419409	179419409	+	Missense_Mutation	SNP	C	C	G			TCGA-WY-A858-01A-11D-A36O-08	TCGA-WY-A858-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4899f0-5237-4a0e-bdcc-8b88c02e4972	8d29a469-4eb5-4bf3-9577-3a8508544daf	g.chr2:179419409C>G	ENST00000589042.1	-	332	88889	c.88665G>C	c.(88663-88665)tgG>tgC	p.W29555C	TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.W20682C|TTN_ENST00000460472.2_Missense_Mutation_p.W20490C|TTN_ENST00000591111.1_Missense_Mutation_p.W27914C|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.W20615C|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.W26987C|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	27914	Fibronectin type-III 115.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTGGAGGCCGCCAGAGAAGGG	0.473													30	87					0	0	1	0	0	G	179419409	C	G	179419409	3	3	507	1	0	0	0	0	1	0	0	0	16797	740	26	5	19438	5	TTN	2	179419409	Missense_Mutation	SNP	C	TCGA-WY-A858-01A-11D-A36O-08		179419409	63779964	4	38209											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-WY-A858-01A-11D-A36O-08	TCGA-WY-A858-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4899f0-5237-4a0e-bdcc-8b88c02e4972	8d29a469-4eb5-4bf3-9577-3a8508544daf	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								23	58					0	0	1	0	0	T	209113112	C	T	209113112	3	4	507	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-WY-A858-01A-11D-A36O-08	29693703	209113112	34086261	5	38210											
NGLY1	55768	broad.mit.edu	37	3	25792628	25792628	+	Missense_Mutation	SNP	A	A	G			TCGA-WY-A858-01A-11D-A36O-08	TCGA-WY-A858-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4899f0-5237-4a0e-bdcc-8b88c02e4972	8d29a469-4eb5-4bf3-9577-3a8508544daf	g.chr3:25792628A>G	ENST00000428257.1	-	4	726	c.619T>C	c.(619-621)Tca>Cca	p.S207P	NGLY1_ENST00000280700.5_Missense_Mutation_p.S207P|NGLY1_ENST00000422724.2_Missense_Mutation_p.S130P|NGLY1_ENST00000417874.2_Missense_Mutation_p.S165P|NGLY1_ENST00000396649.3_Missense_Mutation_p.S207P	NM_001145293.1	NP_001138765.1	Q96IV0	NGLY1_HUMAN	N-glycanase 1	207					glycoprotein catabolic process	cytoplasm	metal ion binding|peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase activity|protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)	18						TTTTCTTGTGATTTCCTTTTT	0.348													10	48					0	0	1	0	0	G	25792628	A	G	25792628	3	3	507	1	0	0	0	0	1	0	0	0	10445	333	12	3	1477	3	NGLY1	3	25792628	Missense_Mutation	SNP	A	TCGA-WY-A858-01A-11D-A36O-08		25792628	172229802	6	38211											
KIF9	64147	broad.mit.edu	37	3	47307320	47307320	+	Silent	SNP	G	G	C			TCGA-WY-A858-01A-11D-A36O-08	TCGA-WY-A858-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4899f0-5237-4a0e-bdcc-8b88c02e4972	8d29a469-4eb5-4bf3-9577-3a8508544daf	g.chr3:47307320G>C	ENST00000335044.2	-	8	1173	c.816C>G	c.(814-816)ctC>ctG	p.L272L	KIF9_ENST00000452770.2_Silent_p.L272L|KIF9_ENST00000444589.2_Silent_p.L272L|KIF9_ENST00000265529.3_Silent_p.L272L|KIF9_ENST00000487440.1_5'UTR|KIF9_ENST00000352910.4_Silent_p.L179L	NM_001134878.1|NM_182902.3	NP_001128350.1|NP_878905.2	Q9HAQ2	KIF9_HUMAN	kinesin family member 9	272					blood coagulation|microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(15)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)	34		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000284)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		CCAGGAATGAGAGCGATTTGT	0.542													38	80					0	0	1	0	0	C	47307320	G	C	47307320	2	2	507	1	0	0	0	0	0	0	0	1	8352	929	33	4		4	KIF9	3	47307320	Silent	SNP	G	TCGA-WY-A858-01A-11D-A36O-08	21514692	47307320	150715110	7	38212											
PTPN23	25930	broad.mit.edu	37	3	47450743	47450743	+	Missense_Mutation	SNP	G	G	A			TCGA-WY-A858-01A-11D-A36O-08	TCGA-WY-A858-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4899f0-5237-4a0e-bdcc-8b88c02e4972	8d29a469-4eb5-4bf3-9577-3a8508544daf	g.chr3:47450743G>A	ENST00000265562.4	+	17	1810	c.1733G>A	c.(1732-1734)cGt>cAt	p.R578H	PTPN23_ENST00000431726.1_Missense_Mutation_p.R452H	NM_015466.2	NP_056281.1	Q9H3S7	PTN23_HUMAN	protein tyrosine phosphatase, non-receptor type 23	578					cilium morphogenesis	cilium|cytoplasmic membrane-bounded vesicle|microtubule basal body	protein tyrosine phosphatase activity			breast(3)|central_nervous_system(1)|large_intestine(5)|lung(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CAGCAGCTGCGTGAGCTTATC	0.602													12	27					0	0	1	0	0	A	47450743	G	A	47450743	3	1	507	1	0	0	0	0	1	0	0	0	12840	1145	40	1	1799	1	PTPN23	3	47450743	Missense_Mutation	SNP	G	TCGA-WY-A858-01A-11D-A36O-08	143423	47450743	150571687	8	38213											
ALCAM	214	broad.mit.edu	37	3	105266056	105266057	+	Frame_Shift_Del	DEL	TA	TA	-			TCGA-WY-A858-01A-11D-A36O-08	TCGA-WY-A858-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4899f0-5237-4a0e-bdcc-8b88c02e4972	8d29a469-4eb5-4bf3-9577-3a8508544daf	g.chr3:105266056_105266057delTA	ENST00000306107.5	+	10	1668_1669	c.1168_1169delTA	c.(1168-1170)tatfs	p.Y390fs	ALCAM_ENST00000472644.2_Frame_Shift_Del_p.Y390fs|ALCAM_ENST00000389927.4_Frame_Shift_Del_p.Y112fs|ALCAM_ENST00000486979.2_Frame_Shift_Del_p.Y339fs	NM_001627.3	NP_001618.2	Q13740	CD166_HUMAN	activated leukocyte cell adhesion molecule	390	Ig-like C2-type 2.				cell adhesion|signal transduction	integral to membrane	receptor binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						TGCTGGAAACTATGTCTGCGAA	0.381													35	94	---	---	---	---						-	105266057	TA	-	105266056	7	5	507	1	0	1	0	1	0	0	0	0	484	1522	53	0	1206	0	ALCAM	3	105266056	Frame_Shift_Del	DEL	TA	TCGA-WY-A858-01A-11D-A36O-08	57815313	105266056	92756374	9	38214											
HHLA2	11148	broad.mit.edu	37	3	108072600	108072603	+	Frame_Shift_Del	DEL	ACAA	ACAA	-			TCGA-WY-A858-01A-11D-A36O-08	TCGA-WY-A858-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4899f0-5237-4a0e-bdcc-8b88c02e4972	8d29a469-4eb5-4bf3-9577-3a8508544daf	g.chr3:108072600_108072603delACAA	ENST00000357759.5	+	4	805_808	c.391_394delACAA	c.(391-396)acaaacfs	p.TN131fs	HHLA2_ENST00000467761.1_Frame_Shift_Del_p.TN131fs|HHLA2_ENST00000491820.1_Frame_Shift_Del_p.TN131fs|HHLA2_ENST00000489514.2_Frame_Shift_Del_p.TN131fs|HHLA2_ENST00000467562.1_Frame_Shift_Del_p.TN67fs	NM_007072.2	NP_009003.1	Q9UM44	HHLA2_HUMAN	HERV-H LTR-associating 2	131	Ig-like V-type 1.					integral to membrane				endometrium(2)|large_intestine(1)|lung(14)|ovary(1)	18						TCAAGTGATTACAAACAAAGTGGT	0.382													8	30	---	---	---	---						-	108072603	ACAA	-	108072600	7	5	507	1	0	1	0	1	0	0	0	0	7136	391	14	0	397	0	HHLA2	3	108072600	Frame_Shift_Del	DEL	ACAA	TCGA-WY-A858-01A-11D-A36O-08	2806544	108072600	89949830	10	38215											
SNX25	83891	broad.mit.edu	37	4	186267775	186267775	+	Missense_Mutation	SNP	T	T	C			TCGA-WY-A858-01A-11D-A36O-08	TCGA-WY-A858-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4899f0-5237-4a0e-bdcc-8b88c02e4972	8d29a469-4eb5-4bf3-9577-3a8508544daf	g.chr4:186267775T>C	ENST00000504273.1	+	13	2074	c.1780T>C	c.(1780-1782)Tcg>Ccg	p.S594P	SNX25_ENST00000264694.8_Missense_Mutation_p.S594P|SNX25_ENST00000512853.1_3'UTR			Q9H3E2	SNX25_HUMAN	sorting nexin 25	594	PX.				cell communication|protein transport	endosome membrane	phosphatidylinositol binding|signal transducer activity			NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(8)|lung(13)|ovary(2)|pancreas(2)|prostate(2)|urinary_tract(2)	40		all_lung(41;1.03e-13)|Lung NSC(41;2.5e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		all cancers(43;2.13e-24)|Epithelial(43;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.6e-11)|BRCA - Breast invasive adenocarcinoma(30;0.00013)|Colorectal(24;0.000165)|GBM - Glioblastoma multiforme(59;0.000357)|COAD - Colon adenocarcinoma(29;0.000887)|STAD - Stomach adenocarcinoma(60;0.00118)|LUSC - Lung squamous cell carcinoma(40;0.0129)|READ - Rectum adenocarcinoma(43;0.228)		TATGGAAAAGTCGAAGAATCA	0.338													9	65					0	0	1	0	0	C	186267775	T	C	186267775	3	2	507	1	0	0	0	0	1	0	0	0	14950	1667	58	3	1826	3	SNX25	4	186267775	Missense_Mutation	SNP	T	TCGA-WY-A858-01A-11D-A36O-08		186267775	4886501	11	38216											
VNN1	8876	broad.mit.edu	37	6	133032924	133032924	+	Missense_Mutation	SNP	T	T	C			TCGA-WY-A858-01A-11D-A36O-08	TCGA-WY-A858-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4899f0-5237-4a0e-bdcc-8b88c02e4972	8d29a469-4eb5-4bf3-9577-3a8508544daf	g.chr6:133032924T>C	ENST00000367928.4	-	2	278	c.265A>G	c.(265-267)Agg>Ggg	p.R89G		NM_004666.2	NP_004657.2	O95497	VNN1_HUMAN	vanin 1	89	CN hydrolase.				acute inflammatory response|anti-apoptosis|cell-cell adhesion|cellular component movement|chronic inflammatory response|innate immune response|pantothenate metabolic process|positive regulation of T cell differentiation in thymus|response to oxidative stress	anchored to membrane|integral to membrane|plasma membrane	GPI anchor binding|pantetheine hydrolase activity			NS(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)	31	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.0027)|GBM - Glioblastoma multiforme(226;0.0189)		AGAGAGTCCCTGTTGAAGTTC	0.433													33	94					0	0	1	0	0	C	133032924	T	C	133032924	3	2	507	1	0	0	0	0	1	0	0	0	17242	1579	55	3	1300	3	VNN1	6	133032924	Missense_Mutation	SNP	T	TCGA-WY-A858-01A-11D-A36O-08		133032924	38082143	12	38217											
FBXO24	26261	broad.mit.edu	37	7	100189399	100189399	+	Silent	SNP	T	T	C			TCGA-WY-A858-01A-11D-A36O-08	TCGA-WY-A858-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4899f0-5237-4a0e-bdcc-8b88c02e4972	8d29a469-4eb5-4bf3-9577-3a8508544daf	g.chr7:100189399T>C	ENST00000241071.6	+	4	754	c.432T>C	c.(430-432)gaT>gaC	p.D144D	FBXO24_ENST00000465843.1_Silent_p.D130D|FBXO24_ENST00000468962.1_Silent_p.D132D|FBXO24_ENST00000427939.2_Silent_p.D182D|FBXO24_ENST00000498195.1_3'UTR|PCOLCE-AS1_ENST00000442166.2_RNA|FBXO24_ENST00000360609.2_Silent_p.D130D	NM_033506.2	NP_277041.1	O75426	FBX24_HUMAN	F-box protein 24	144						ubiquitin ligase complex	ubiquitin-protein ligase activity			NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2)	28	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					CCACCAAGGATCACGTCTTCA	0.602													17	74					0	0	1	0	0	C	100189399	T	C	100189399	2	2	507	1	0	0	0	0	0	0	0	1	5768	1432	50	3		3	FBXO24	7	100189399	Silent	SNP	T	TCGA-WY-A858-01A-11D-A36O-08		100189399	58949264	13	38218											
MTMR9	66036	broad.mit.edu	37	8	11180232	11180232	+	Missense_Mutation	SNP	G	G	A			TCGA-WY-A858-01A-11D-A36O-08	TCGA-WY-A858-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4899f0-5237-4a0e-bdcc-8b88c02e4972	8d29a469-4eb5-4bf3-9577-3a8508544daf	g.chr8:11180232G>A	ENST00000221086.3	+	10	2058	c.1585G>A	c.(1585-1587)Gtc>Atc	p.V529I	AF131216.6_ENST00000498997.2_RNA|MTMR9_ENST00000526292.1_Missense_Mutation_p.V444I	NM_015458.3	NP_056273.2	Q96QG7	MTMR9_HUMAN	myotubularin related protein 9	529						cytoplasm	phosphatase activity|protein binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(2)	16			STAD - Stomach adenocarcinoma(15;0.215)	COAD - Colon adenocarcinoma(149;0.0678)		ACAAGCAAAAGTCAATATCCT	0.418													13	45					0	0	1	0	0	A	11180232	G	A	11180232	3	1	507	1	0	0	0	0	1	0	0	0	9998	1029	36	2	1623	2	MTMR9	8	11180232	Missense_Mutation	SNP	G	TCGA-WY-A858-01A-11D-A36O-08		11180232	135183790	14	38219											
BAI1	575	broad.mit.edu	37	8	143603376	143603378	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-WY-A858-01A-11D-A36O-08	TCGA-WY-A858-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4899f0-5237-4a0e-bdcc-8b88c02e4972	8d29a469-4eb5-4bf3-9577-3a8508544daf	g.chr8:143603376_143603378delCTT	ENST00000517894.1	+	21	3969_3971	c.3075_3077delCTT	c.(3073-3078)tccttc>tcc	p.F1026del	BAI1_ENST00000323289.5_In_Frame_Del_p.F1026del			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	1026					axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					TCCTGTCCTCCTTCTGCTGGGTG	0.695													11	15	---	---	---	---						-	143603378	CTT	-	143603376	7	5	507	1	0	1	0	1	0	0	0	0	1296	668	24	0	3153	0	BAI1	8	143603376	In_Frame_Del	DEL	CTT	TCGA-WY-A858-01A-11D-A36O-08	132423144	143603376	2760646	15	38220											
RPL35	11224	broad.mit.edu	37	9	127623796	127623798	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-WY-A858-01A-11D-A36O-08	TCGA-WY-A858-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4899f0-5237-4a0e-bdcc-8b88c02e4972	8d29a469-4eb5-4bf3-9577-3a8508544daf	g.chr9:127623796_127623798delCTT	ENST00000373570.4	-	2	42_44	c.40_42delAAG	c.(40-42)aagdel	p.K14del	RPL35_ENST00000348462.3_In_Frame_Del_p.K14del			P42766	RL35_HUMAN	ribosomal protein L35	14					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	mRNA binding|protein binding|structural constituent of ribosome			breast(1)|large_intestine(1)|lung(1)|ovary(1)	4				GBM - Glioblastoma multiforme(294;0.182)		GCAGCTCCTCCTTCTTCTTCCCG	0.621													22	62	---	---	---	---						-	127623798	CTT	-	127623796	7	5	507	1	0	1	0	1	0	0	0	0	13636	680	24	0	341	0	RPL35	9	127623796	In_Frame_Del	DEL	CTT	TCGA-WY-A858-01A-11D-A36O-08		127623796	13589635	16	38221											
MRC1	4360	broad.mit.edu	37	10	17891628	17891628	+	Missense_Mutation	SNP	C	C	T			TCGA-WY-A858-01A-11D-A36O-08	TCGA-WY-A858-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4899f0-5237-4a0e-bdcc-8b88c02e4972	8d29a469-4eb5-4bf3-9577-3a8508544daf	g.chr10:17891628C>T	ENST00000331429.2	+	7	1212	c.1109C>T	c.(1108-1110)gCc>gTc	p.A370V	MRC1L1_ENST00000457317.1_Missense_Mutation_p.A370V																breast(1)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						TGGCCGTATGCCGGTCACTGT	0.443													4	173					0	0	1	0	0	T	17891628	C	T	17891628	3	4	507	1	0	0	0	0	1	0	0	0	9805	739	26	2	1135	2	MRC1	10	17891628	Missense_Mutation	SNP	C	TCGA-WY-A858-01A-11D-A36O-08		17891628	117643119	17	38222											
COL2A1	1280	broad.mit.edu	37	12	48373309	48373309	+	Silent	SNP	T	T	C			TCGA-WY-A858-01A-11D-A36O-08	TCGA-WY-A858-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4899f0-5237-4a0e-bdcc-8b88c02e4972	8d29a469-4eb5-4bf3-9577-3a8508544daf	g.chr12:48373309T>C	ENST00000380518.3	-	41	2882	c.2718A>G	c.(2716-2718)ggA>ggG	p.G906G	COL2A1_ENST00000493991.1_5'UTR|COL2A1_ENST00000337299.6_Silent_p.G837G	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	906	Triple-helical region.				axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	AGCCTGGGGGTCCAACGCGGC	0.602													3	53					0	0	1	0	0	C	48373309	T	C	48373309	2	2	507	1	0	0	0	0	0	0	0	1	3710	1654	58	3		3	COL2A1	12	48373309	Silent	SNP	T	TCGA-WY-A858-01A-11D-A36O-08		48373309	85478586	18	38223											
OR6C3	254786	broad.mit.edu	37	12	55725991	55725991	+	Silent	SNP	C	C	T			TCGA-WY-A858-01A-11D-A36O-08	TCGA-WY-A858-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4899f0-5237-4a0e-bdcc-8b88c02e4972	8d29a469-4eb5-4bf3-9577-3a8508544daf	g.chr12:55725991C>T	ENST00000379667.1	+	1	507	c.507C>T	c.(505-507)aaC>aaT	p.N169N		NM_054104.1	NP_473445.1	Q9NZP0	OR6C3_HUMAN	olfactory receptor, family 6, subfamily C, member 3	169					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)|skin(2)	11						GTGCTTCCAACGTCATTGATC	0.433													45	160					0	0	1	0	0	T	55725991	C	T	55725991	2	4	507	1	0	0	0	0	0	0	0	1	11239	535	19	1		1	OR6C3	12	55725991	Silent	SNP	C	TCGA-WY-A858-01A-11D-A36O-08	7352682	55725991	78125904	19	38224											
BAZ2A	11176	broad.mit.edu	37	12	56998880	56998880	+	Missense_Mutation	SNP	G	G	A			TCGA-WY-A858-01A-11D-A36O-08	TCGA-WY-A858-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4899f0-5237-4a0e-bdcc-8b88c02e4972	8d29a469-4eb5-4bf3-9577-3a8508544daf	g.chr12:56998880G>A	ENST00000179765.5	-	15	2834	c.2635C>T	c.(2635-2637)Cct>Tct	p.P879S	BAZ2A_ENST00000549884.1_Missense_Mutation_p.P909S|BAZ2A_ENST00000379441.3_Missense_Mutation_p.P881S|BAZ2A_ENST00000551812.1_Missense_Mutation_p.P911S			Q9UIF9	BAZ2A_HUMAN	bromodomain adjacent to zinc finger domain, 2A	911	DDT.				chromatin silencing at rDNA|DNA methylation|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	DNA binding|histone acetyl-lysine binding|ligand-dependent nuclear receptor binding|RNA binding|zinc ion binding			breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						GGAAAGCCAGGATCATGGAGT	0.522													13	21					0	0	1	0	0	A	56998880	G	A	56998880	3	1	507	1	0	0	0	0	1	0	0	0	1329	1174	41	2	3050	2	BAZ2A	12	56998880	Missense_Mutation	SNP	G	TCGA-WY-A858-01A-11D-A36O-08	1272889	56998880	76853015	20	38225											
PLXNC1	10154	broad.mit.edu	37	12	94673311	94673314	+	Frame_Shift_Del	DEL	TCAG	TCAG	-			TCGA-WY-A858-01A-11D-A36O-08	TCGA-WY-A858-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4899f0-5237-4a0e-bdcc-8b88c02e4972	8d29a469-4eb5-4bf3-9577-3a8508544daf	g.chr12:94673311_94673314delTCAG	ENST00000258526.4	+	22	3910_3913	c.3661_3664delTCAG	c.(3661-3666)tcagtcfs	p.SV1221fs	PLXNC1_ENST00000545312.1_5'UTR|RP11-1105G2.3_ENST00000551941.1_Intron|PLXNC1_ENST00000547057.1_Frame_Shift_Del_p.SV268fs	NM_005761.2	NP_005752.1	O60486	PLXC1_HUMAN	plexin C1	1221					axon guidance|cell adhesion	integral to membrane|intracellular|plasma membrane	receptor activity|receptor binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						TCGGAATATTTCAGTCAATGTTCT	0.402													34	94	---	---	---	---						-	94673314	TCAG	-	94673311	7	5	507	1	0	1	0	1	0	0	0	0	12174	1783	62	0	3747	0	PLXNC1	12	94673311	Frame_Shift_Del	DEL	TCAG	TCGA-WY-A858-01A-11D-A36O-08	37674431	94673311	39178584	21	38226											
FLT1	2321	broad.mit.edu	37	13	29041202	29041202	+	Missense_Mutation	SNP	T	T	C			TCGA-WY-A858-01A-11D-A36O-08	TCGA-WY-A858-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4899f0-5237-4a0e-bdcc-8b88c02e4972	8d29a469-4eb5-4bf3-9577-3a8508544daf	g.chr13:29041202T>C	ENST00000282397.4	-	3	477	c.226A>G	c.(226-228)Ata>Gta	p.I76V	FLT1_ENST00000539099.1_Missense_Mutation_p.I76V|FLT1_ENST00000541932.1_Missense_Mutation_p.I76V	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	76	Ig-like C2-type 1.				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	GATTTAGTTATGCTCAGCCTT	0.418													6	158					0	0	1	0	0	C	29041202	T	C	29041202	3	2	507	1	0	0	0	0	1	0	0	0	5974	1464	51	3	4165	3	FLT1	13	29041202	Missense_Mutation	SNP	T	TCGA-WY-A858-01A-11D-A36O-08		29041202	86128676	22	38227											
GPR18	2841	broad.mit.edu	37	13	99908051	99908051	+	Missense_Mutation	SNP	G	G	A			TCGA-WY-A858-01A-11D-A36O-08	TCGA-WY-A858-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4899f0-5237-4a0e-bdcc-8b88c02e4972	8d29a469-4eb5-4bf3-9577-3a8508544daf	g.chr13:99908051G>A	ENST00000340807.3	-	3	632	c.76C>T	c.(76-78)Ctt>Ttt	p.L26F	GPR18_ENST00000397473.2_Missense_Mutation_p.L26F|UBAC2_ENST00000403766.3_Intron|UBAC2_ENST00000376440.2_Intron|GPR18_ENST00000397470.2_Missense_Mutation_p.L26F			Q14330	GPR18_HUMAN	G protein-coupled receptor 18	26						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(2)|large_intestine(2)|lung(6)	10	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Glycine(DB00145)	TAGAAGACAAGGGCTGCAATT	0.388													8	85					0	0	1	0	0	A	99908051	G	A	99908051	3	1	507	1	0	0	0	0	1	0	0	0	6715	1000	35	2	923	2	GPR18	13	99908051	Missense_Mutation	SNP	G	TCGA-WY-A858-01A-11D-A36O-08	70866849	99908051	15261827	23	38228											
SMOC1	64093	broad.mit.edu	37	14	70442502	70442502	+	Frame_Shift_Del	DEL	C	C	-			TCGA-WY-A858-01A-11D-A36O-08	TCGA-WY-A858-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4899f0-5237-4a0e-bdcc-8b88c02e4972	8d29a469-4eb5-4bf3-9577-3a8508544daf	g.chr14:70442502delC	ENST00000381280.4	+	4	702	c.449delC	c.(448-450)tctfs	p.S150fs	SMOC1_ENST00000361956.3_Frame_Shift_Del_p.S150fs	NM_001034852.2|NM_022137.5	NP_001030024.1|NP_071420.1	Q9H4F8	SMOC1_HUMAN	SPARC related modular calcium binding 1	150	Thyroglobulin type-1 1.				cell differentiation|eye development|limb development|regulation of osteoblast differentiation|signal transduction	basement membrane	calcium ion binding	p.S150F(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	21				all cancers(60;0.00417)|BRCA - Breast invasive adenocarcinoma(234;0.0119)|OV - Ovarian serous cystadenocarcinoma(108;0.028)		AGTGGCTCTTCTGTGCAGAAT	0.522													18	47	---	---	---	---						-	70442502	C	-	70442502	7	5	507	1	0	1	0	1	0	0	0	0	14855	913	32	0	463	0	SMOC1	14	70442502	Frame_Shift_Del	DEL	C	TCGA-WY-A858-01A-11D-A36O-08		70442502	36907038	24	38229											
SNW1	22938	broad.mit.edu	37	14	78197382	78197382	+	Missense_Mutation	SNP	C	C	T			TCGA-WY-A858-01A-11D-A36O-08	TCGA-WY-A858-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4899f0-5237-4a0e-bdcc-8b88c02e4972	8d29a469-4eb5-4bf3-9577-3a8508544daf	g.chr14:78197382C>T	ENST00000261531.7	-	10	1044	c.982G>A	c.(982-984)Gcc>Acc	p.A328T	SNW1_ENST00000554775.1_Missense_Mutation_p.A166T|SNW1_ENST00000555761.1_Missense_Mutation_p.A328T|SLIRP_ENST00000557431.1_Intron	NM_012245.2	NP_036377.1	Q13573	SNW1_HUMAN	SNW domain containing 1	328	SNW.				negative regulation of transcription, DNA-dependent|nuclear mRNA splicing, via spliceosome|regulation of transcription from RNA polymerase II promoter	catalytic step 2 spliceosome|nucleoplasm	Notch binding			NS(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)		GCTTTCTGGGCCATTTCTCTA	0.403													4	97					0	0	1	0	0	T	78197382	C	T	78197382	3	4	507	1	0	0	0	0	1	0	0	0	14933	739	26	2	648	2	SNW1	14	78197382	Missense_Mutation	SNP	C	TCGA-WY-A858-01A-11D-A36O-08	7754880	78197382	29152158	25	38230											
DEGS2	123099	broad.mit.edu	37	14	100615600	100615600	+	Missense_Mutation	SNP	A	A	G			TCGA-WY-A858-01A-11D-A36O-08	TCGA-WY-A858-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4899f0-5237-4a0e-bdcc-8b88c02e4972	8d29a469-4eb5-4bf3-9577-3a8508544daf	g.chr14:100615600A>G	ENST00000305631.5	-	2	1105	c.530T>C	c.(529-531)gTc>gCc	p.V177A	DEGS2_ENST00000553834.1_Intron|DEGS2_ENST00000557117.1_5'UTR	NM_206918.2	NP_996801.2	Q6QHC5	DEGS2_HUMAN	delta(4)-desaturase, sphingolipid 2	177					fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	sphingosine hydroxylase activity			breast(1)|lung(6)|skin(1)	8		Melanoma(154;0.212)				CTTGGGGTGGACGCAGAGCGG	0.667													16	42					0	0	1	0	0	G	100615600	A	G	100615600	3	3	507	1	0	0	0	0	1	0	0	0	4451	275	10	3	449	3	DEGS2	14	100615600	Missense_Mutation	SNP	A	TCGA-WY-A858-01A-11D-A36O-08	22418218	100615600	6733940	26	38231											
SLC28A2	9153	broad.mit.edu	37	15	45554261	45554261	+	Silent	SNP	C	C	T	rs59889218		TCGA-WY-A858-01A-11D-A36O-08	TCGA-WY-A858-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4899f0-5237-4a0e-bdcc-8b88c02e4972	8d29a469-4eb5-4bf3-9577-3a8508544daf	g.chr15:45554261C>T	ENST00000347644.3	+	4	284	c.219C>T	c.(217-219)caC>caT	p.H73H	CTD-2651B20.3_ENST00000561404.1_RNA|CTD-2651B20.3_ENST00000560344.1_RNA	NM_004212.3	NP_004203.2	O43868	S28A2_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 2	73					nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding|nucleoside:sodium symporter activity|purine nucleoside transmembrane transporter activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(4)|skin(1)	26		all_cancers(109;8.53e-07)|all_epithelial(112;1.39e-05)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;3.77e-16)|GBM - Glioblastoma multiforme(94;2.71e-06)		GCAAAACACACGCCAGCTTGT	0.393													4	121					0	0	1	0	0	T	45554261	C	T	45554261	2	4	507	1	0	0	0	0	0	0	0	1	14587	535	19	1		1	SLC28A2	15	45554261	Silent	SNP	C	TCGA-WY-A858-01A-11D-A36O-08		45554261	56977131	27	38232											
DTWD1	56986	broad.mit.edu	37	15	49935734	49935734	+	Missense_Mutation	SNP	A	A	G			TCGA-WY-A858-01A-11D-A36O-08	TCGA-WY-A858-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4899f0-5237-4a0e-bdcc-8b88c02e4972	8d29a469-4eb5-4bf3-9577-3a8508544daf	g.chr15:49935734A>G	ENST00000251250.6	+	6	1081	c.874A>G	c.(874-876)Aaa>Gaa	p.K292E	DTWD1_ENST00000558653.1_Missense_Mutation_p.K292E|DTWD1_ENST00000403028.3_Missense_Mutation_p.K292E|DTWD1_ENST00000415425.1_Missense_Mutation_p.K205E	NM_020234.5	NP_064619.2	Q8N5C7	DTWD1_HUMAN	DTW domain containing 1	292										endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	9		all_lung(180;0.0384)		all cancers(107;3.27e-08)|GBM - Glioblastoma multiforme(94;7.6e-05)		AAAGAATGCCAAATGCTCTGG	0.289													40	81					0	0	1	0	0	G	49935734	A	G	49935734	3	3	507	1	0	0	0	0	1	0	0	0	4817	131	5	3	888	3	DTWD1	15	49935734	Missense_Mutation	SNP	A	TCGA-WY-A858-01A-11D-A36O-08	4381473	49935734	52595658	28	38233											
CA12	771	broad.mit.edu	37	15	63637702	63637702	+	Missense_Mutation	SNP	C	C	T			TCGA-WY-A858-01A-11D-A36O-08	TCGA-WY-A858-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4899f0-5237-4a0e-bdcc-8b88c02e4972	8d29a469-4eb5-4bf3-9577-3a8508544daf	g.chr15:63637702C>T	ENST00000178638.3	-	4	843	c.403G>A	c.(403-405)Gtc>Atc	p.V135I	CA12_ENST00000344366.3_Missense_Mutation_p.V135I|CA12_ENST00000422263.2_Missense_Mutation_p.V75I	NM_001218.3	NP_001209.1	O43570	CAH12_HUMAN	carbonic anhydrase XII	135					one-carbon metabolic process	integral to membrane	carbonate dehydratase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	16					Acetazolamide(DB00819)	TGTCCGCTGACGGTGTGCTCA	0.647													11	21					0	0	1	0	0	T	63637702	C	T	63637702	3	4	507	1	0	0	0	0	1	0	0	0	2531	536	19	1	693	1	CA12	15	63637702	Missense_Mutation	SNP	C	TCGA-WY-A858-01A-11D-A36O-08	13701968	63637702	38893690	29	38234											
ITGAE	3682	broad.mit.edu	37	17	3653745	3653745	+	Missense_Mutation	SNP	A	A	G			TCGA-WY-A858-01A-11D-A36O-08	TCGA-WY-A858-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4899f0-5237-4a0e-bdcc-8b88c02e4972	8d29a469-4eb5-4bf3-9577-3a8508544daf	g.chr17:3653745A>G	ENST00000263087.4	-	16	2023	c.1925T>C	c.(1924-1926)cTc>cCc	p.L642P		NM_002208.4	NP_002199.3	P38570	ITAE_HUMAN	integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide)	642					cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		GAAGTACTGGAGTCCTGGGGC	0.632													3	29					0	0	1	0	0	G	3653745	A	G	3653745	3	3	507	1	0	0	0	0	1	0	0	0	7929	304	11	3	1678	3	ITGAE	17	3653745	Missense_Mutation	SNP	A	TCGA-WY-A858-01A-11D-A36O-08		3653745	77541465	30	38235											
PLD2	5338	broad.mit.edu	37	17	4718863	4718863	+	Silent	SNP	G	G	A			TCGA-WY-A858-01A-11D-A36O-08	TCGA-WY-A858-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4899f0-5237-4a0e-bdcc-8b88c02e4972	8d29a469-4eb5-4bf3-9577-3a8508544daf	g.chr17:4718863G>A	ENST00000263088.6	+	13	1397	c.1266G>A	c.(1264-1266)ctG>ctA	p.L422L	PLD2_ENST00000572940.1_Silent_p.L422L	NM_001243108.1|NM_002663.4	NP_001230037.1|NP_002654.3	O14939	PLD2_HUMAN	phospholipase D2	422					cell communication|cytoskeleton organization|small GTPase mediated signal transduction		NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)	31					Choline(DB00122)	CGCTGATGCTGCTGCACCCCA	0.582											OREG0024105	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	41	136					0	0	1	0	0	A	4718863	G	A	4718863	2	1	507	1	0	0	0	0	0	0	0	1	12094	1306	46	2		2	PLD2	17	4718863	Silent	SNP	G	TCGA-WY-A858-01A-11D-A36O-08	1065118	4718863	76476347	31	38236											
TP53	7157	broad.mit.edu	37	17	7576897	7576897	+	Nonsense_Mutation	SNP	G	G	A			TCGA-WY-A858-01A-11D-A36O-08	TCGA-WY-A858-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4899f0-5237-4a0e-bdcc-8b88c02e4972	8d29a469-4eb5-4bf3-9577-3a8508544daf	g.chr17:7576897G>A	ENST00000420246.2	-	9	1081	c.949C>T	c.(949-951)Cag>Tag	p.Q317*	TP53_ENST00000359597.4_Nonsense_Mutation_p.Q317*|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Nonsense_Mutation_p.Q317*|TP53_ENST00000269305.4_Nonsense_Mutation_p.Q317*|TP53_ENST00000445888.2_Nonsense_Mutation_p.Q317*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	317	Interaction with CARM1.|Interaction with HIPK1 (By similarity).		Q -> H (in a kidney cancer with no family history; germline mutation and in a sporadic cancer; somatic mutation).|Q -> K (in sporadic cancers; somatic mutation).|Q -> L (in a sporadic cancer; somatic mutation).|Q -> P (in a sporadic cancer; somatic mutation).|Q -> R (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.Q317*(29)|p.0?(8)|p.Q317K(3)|p.S315fs*22(1)|p.?(1)|p.S314fs*25(1)|p.L308fs*15(1)|p.Q317fs*28(1)|p.Q317fs*45(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)		TTCTTTGGCTGGGGAGAGGAG	0.473		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)			15	33					0	0	1	0	0	A	7576897	G	A	7576897	4	1	507	1	0	0	0	0	0	1	0	0	16442	1357	47	2	333	2	TP53	17	7576897	Nonsense_Mutation	SNP	G	TCGA-WY-A858-01A-11D-A36O-08	2858034	7576897	73618313	32	38237											
TP53	7157	broad.mit.edu	37	17	7578479	7578479	+	Missense_Mutation	SNP	G	G	A	rs28934874		TCGA-WY-A858-01A-11D-A36O-08	TCGA-WY-A858-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4899f0-5237-4a0e-bdcc-8b88c02e4972	8d29a469-4eb5-4bf3-9577-3a8508544daf	g.chr17:7578479G>A	ENST00000420246.2	-	5	583	c.451C>T	c.(451-453)Ccc>Tcc	p.P151S	TP53_ENST00000359597.4_Missense_Mutation_p.P151S|TP53_ENST00000413465.2_Missense_Mutation_p.P151S|TP53_ENST00000455263.2_Missense_Mutation_p.P151S|TP53_ENST00000269305.4_Missense_Mutation_p.P151S|TP53_ENST00000445888.2_Missense_Mutation_p.P151S	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	151	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		P -> A (in sporadic cancers; somatic mutation).|P -> H (in sporadic cancers; somatic mutation).|P -> L (in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934874).|P -> T (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.P151S(68)|p.P151T(16)|p.P151A(13)|p.P152fs*18(9)|p.0?(8)|p.T150fs*16(6)|p.P151fs*30(6)|p.?(5)|p.P58A(2)|p.P58S(2)|p.P19A(2)|p.P19S(2)|p.P151_V173del23(1)|p.P152_P153del(1)|p.P152fs*28(1)|p.T57fs*16(1)|p.P151del(1)|p.D148_T155delDSTPPPGT(1)|p.T150_P153delTPPP(1)|p.D148fs*23(1)|p.S149fs*72(1)|p.P58T(1)|p.S149fs*17(1)|p.Q144_G154del11(1)|p.Q144fs*16(1)|p.P19T(1)|p.P152fs*14(1)|p.T18fs*16(1)|p.T150_P151delTP(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)		CCGGGCGGGGGTGTGGAATCA	0.612		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)			18	36					0	0	1	0	0	A	7578479	G	A	7578479	3	1	507	1	0	0	0	0	1	0	0	0	16442	1261	44	2	847	2	TP53	17	7578479	Missense_Mutation	SNP	G	TCGA-WY-A858-01A-11D-A36O-08	1582	7578479	73616731	33	38238											
MYH1	4619	broad.mit.edu	37	17	10411266	10411266	+	Silent	SNP	G	G	A	rs149473835	byFrequency	TCGA-WY-A858-01A-11D-A36O-08	TCGA-WY-A858-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4899f0-5237-4a0e-bdcc-8b88c02e4972	8d29a469-4eb5-4bf3-9577-3a8508544daf	g.chr17:10411266G>A	ENST00000226207.5	-	17	1999	c.1905C>T	c.(1903-1905)ggC>ggT	p.G635G	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	635	Myosin head-like.					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						TCTTTCCACCGCCAGCCTCTG	0.383													28	37					0	0	1	0	0	A	10411266	G	A	10411266	2	1	507	1	0	0	0	0	0	0	0	1	10077	1074	38	1		1	MYH1	17	10411266	Silent	SNP	G	TCGA-WY-A858-01A-11D-A36O-08	2832787	10411266	70783944	34	38239											
MKS1	54903	broad.mit.edu	37	17	56294063	56294063	+	Silent	SNP	C	C	T			TCGA-WY-A858-01A-11D-A36O-08	TCGA-WY-A858-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4899f0-5237-4a0e-bdcc-8b88c02e4972	8d29a469-4eb5-4bf3-9577-3a8508544daf	g.chr17:56294063C>T	ENST00000393119.2	-	3	299	c.225G>A	c.(223-225)gaG>gaA	p.E75E	MKS1_ENST00000546108.1_5'UTR|MKS1_ENST00000337050.7_Silent_p.E75E|MKS1_ENST00000537529.2_Silent_p.E65E|MKS1_ENST00000313863.6_Silent_p.E75E	NM_017777.3	NP_060247.2	Q9NXB0	MKS1_HUMAN	Meckel syndrome, type 1	75					cilium assembly	centrosome|cilium|microtubule basal body	protein binding			endometrium(5)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						CAATCACAATCTCCTCCTCTT	0.502													22	51					0	0	1	0	0	T	56294063	C	T	56294063	2	4	507	1	0	0	0	0	0	0	0	1	9657	912	32	2		2	MKS1	17	56294063	Silent	SNP	C	TCGA-WY-A858-01A-11D-A36O-08	45882797	56294063	24901147	35	38240											
APOH	350	broad.mit.edu	37	17	64224315	64224315	+	Splice_Site	SNP	C	C	T	rs113836465		TCGA-WY-A858-01A-11D-A36O-08	TCGA-WY-A858-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4899f0-5237-4a0e-bdcc-8b88c02e4972	8d29a469-4eb5-4bf3-9577-3a8508544daf	g.chr17:64224315C>T	ENST00000205948.6	-	2	102		c.e2-1			NM_000042.2	NP_000033.2	P02749	APOH_HUMAN	apolipoprotein H (beta-2-glycoprotein I)						blood coagulation, intrinsic pathway|negative regulation of angiogenesis|negative regulation of blood coagulation|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of myeloid cell apoptosis|negative regulation of smooth muscle cell apoptosis|plasminogen activation|positive regulation of lipoprotein lipase activity|triglyceride metabolic process|triglyceride transport	cell surface|chylomicron|high-density lipoprotein particle|very-low-density lipoprotein particle	eukaryotic cell surface binding|glycoprotein binding|heparin binding|lipoprotein lipase activator activity|phospholipid binding			central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(6;9.74e-08)			TTGGGACAGGCTGAAAGAGGG	0.408													29	46					0	0	1	0	0	T	64224315	C	T	64224315	5	4	507	1	0	0	0	0	0	0	1	0	801	811	28	2	1001	2	APOH	17	64224315	Splice_Site	SNP	C	TCGA-WY-A858-01A-11D-A36O-08	7930252	64224315	16970895	36	38241											
SERPINB5	5268	broad.mit.edu	37	18	61154285	61154285	+	Missense_Mutation	SNP	T	T	C			TCGA-WY-A858-01A-11D-A36O-08	TCGA-WY-A858-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4899f0-5237-4a0e-bdcc-8b88c02e4972	8d29a469-4eb5-4bf3-9577-3a8508544daf	g.chr18:61154285T>C	ENST00000382771.4	+	3	567	c.275T>C	c.(274-276)cTc>cCc	p.L92P	SERPINB5_ENST00000489441.1_Missense_Mutation_p.L92P	NM_002639.4	NP_002630.2	P36952	SPB5_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 5	92					cellular component movement|regulation of proteolysis	cytoplasm|extracellular space	protein binding|serine-type endopeptidase inhibitor activity			kidney(3)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)	12						ATCAAGCGGCTCTACGTAGAC	0.353													4	104					0	0	1	0	0	C	61154285	T	C	61154285	3	2	507	1	0	0	0	0	1	0	0	0	14158	1551	54	3	281	3	SERPINB5	18	61154285	Missense_Mutation	SNP	T	TCGA-WY-A858-01A-11D-A36O-08		61154285	16922963	37	38242											
MADCAM1	8174	broad.mit.edu	37	19	498503	498503	+	Silent	SNP	G	G	A			TCGA-WY-A858-01A-11D-A36O-08	TCGA-WY-A858-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4899f0-5237-4a0e-bdcc-8b88c02e4972	8d29a469-4eb5-4bf3-9577-3a8508544daf	g.chr19:498503G>A	ENST00000215637.3	+	3	391	c.345G>A	c.(343-345)ccG>ccA	p.P115P	MADCAM1_ENST00000382683.4_Silent_p.P20P|MADCAM1_ENST00000587541.1_Intron|MADCAM1_ENST00000346144.4_Silent_p.P115P|AC005775.2_ENST00000592413.1_RNA	NM_130760.2	NP_570116.2	Q13477	MADCA_HUMAN	mucosal vascular addressin cell adhesion molecule 1	115	Ig-like 2.				cell adhesion|immune response|regulation of immune response|signal transduction	integral to membrane|membrane fraction|plasma membrane				central_nervous_system(1)|endometrium(1)|kidney(1)|lung(4)|prostate(1)|skin(2)	10		all_cancers(10;4.25e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)		CAGCCTTCCCGGACCAGCTGA	0.706													7	24					0	0	1	0	0	A	498503	G	A	498503	2	1	507	1	0	0	0	0	0	0	0	1	9197	1103	39	1		1	MADCAM1	19	498503	Silent	SNP	G	TCGA-WY-A858-01A-11D-A36O-08		498503	58630480	38	38243											
SMARCA4	6597	broad.mit.edu	37	19	11135109	11135111	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-WY-A858-01A-11D-A36O-08	TCGA-WY-A858-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4899f0-5237-4a0e-bdcc-8b88c02e4972	8d29a469-4eb5-4bf3-9577-3a8508544daf	g.chr19:11135109_11135111delAAG	ENST00000358026.2	+	21	3360_3362	c.3076_3078delAAG	c.(3076-3078)aagdel	p.K1027del	SMARCA4_ENST00000450717.3_In_Frame_Del_p.K1027del|SMARCA4_ENST00000444061.3_In_Frame_Del_p.K1027del|SMARCA4_ENST00000589677.1_In_Frame_Del_p.K1027del|SMARCA4_ENST00000344626.4_In_Frame_Del_p.K1027del|SMARCA4_ENST00000541122.2_In_Frame_Del_p.K1027del|SMARCA4_ENST00000590574.1_In_Frame_Del_p.K1027del|SMARCA4_ENST00000429416.3_In_Frame_Del_p.K1027del|SMARCA4_ENST00000413806.3_In_Frame_Del_p.K1027del	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	1027					chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				CGAGAAGGACAAGAAGGTGGGCC	0.626			"F, N, Mis"		NSCLC								16	34	---	---	---	---						-	11135111	AAG	-	11135109	7	5	507	1	0	1	0	1	0	0	0	0	14824	131	5	0	3154	0	SMARCA4	19	11135109	In_Frame_Del	DEL	AAG	TCGA-WY-A858-01A-11D-A36O-08	10636606	11135109	47993874	39	38244											
PARD6B	84612	broad.mit.edu	37	20	49366352	49366352	+	Missense_Mutation	SNP	A	A	G			TCGA-WY-A858-01A-11D-A36O-08	TCGA-WY-A858-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4899f0-5237-4a0e-bdcc-8b88c02e4972	8d29a469-4eb5-4bf3-9577-3a8508544daf	g.chr20:49366352A>G	ENST00000371610.2	+	3	689	c.446A>G	c.(445-447)gAt>gGt	p.D149G	PARD6B_ENST00000396039.1_Intron	NM_032521.2	NP_115910.1	Q9BYG5	PAR6B_HUMAN	par-6 family cell polarity regulator beta	149	Interaction with PARD3 and CDC42 (By similarity).|Pseudo-CRIB.				axonogenesis|cell cycle|cell division|establishment or maintenance of cell polarity|protein complex assembly|regulation of cell migration|tight junction assembly	cytosol|tight junction	protein binding			NS(1)|breast(1)|endometrium(1)|kidney(4)|lung(3)|urinary_tract(1)	11						ATAGACGTGGATATTCTCCCA	0.448													6	74					0	0	1	0	0	G	49366352	A	G	49366352	3	3	507	1	0	0	0	0	1	0	0	0	11493	333	12	3	456	3	PARD6B	20	49366352	Missense_Mutation	SNP	A	TCGA-WY-A858-01A-11D-A36O-08		49366352	13659168	40	38245											
OFD1	8481	broad.mit.edu	37	X	13767612	13767612	+	Missense_Mutation	SNP	A	A	G			TCGA-WY-A858-01A-11D-A36O-08	TCGA-WY-A858-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4899f0-5237-4a0e-bdcc-8b88c02e4972	8d29a469-4eb5-4bf3-9577-3a8508544daf	g.chrX:13767612A>G	ENST00000380567.1	+	10	1347	c.475A>G	c.(475-477)Aga>Gga	p.R159G	OFD1_ENST00000490265.1_3'UTR|OFD1_ENST00000380550.3_Missense_Mutation_p.R299G|OFD1_ENST00000340096.6_Missense_Mutation_p.R299G|OFD1_ENST00000398395.3_Missense_Mutation_p.R299G			O75665	OFD1_HUMAN	oral-facial-digital syndrome 1	299					cilium movement involved in determination of left/right asymmetry|G2/M transition of mitotic cell cycle	centriole|cilium|cytosol|microtubule basal body|nuclear membrane	alpha-tubulin binding|gamma-tubulin binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	25						GCTAAGAGGAAGAGAAGCAGA	0.299													3	42					0	0	1	0	0	G	13767612	A	G	13767612	3	3	507	1	0	0	0	0	1	0	0	0	10886	64	3	3	929	3	OFD1	23	13767612	Missense_Mutation	SNP	A	TCGA-WY-A858-01A-11D-A36O-08		13767612	141502948	41	38246											
MAGEE1	57692	broad.mit.edu	37	X	75649951	75649951	+	Missense_Mutation	SNP	T	T	G			TCGA-WY-A858-01A-11D-A36O-08	TCGA-WY-A858-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4899f0-5237-4a0e-bdcc-8b88c02e4972	8d29a469-4eb5-4bf3-9577-3a8508544daf	g.chrX:75649951T>G	ENST00000361470.2	+	1	1906	c.1628T>G	c.(1627-1629)aTt>aGt	p.I543S		NM_020932.2	NP_065983.1	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	543	MAGE 1.					dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						CTGGAGTGCATTTTTAGGTTT	0.468													15	38					0	0	1	0	0	G	75649951	T	G	75649951	3	3	507	1	0	0	0	0	1	0	0	0	9235	1493	52	4	1630	4	MAGEE1	23	75649951	Missense_Mutation	SNP	T	TCGA-WY-A858-01A-11D-A36O-08	61882339	75649951	79620609	42	38247											
ATRX	546	broad.mit.edu	37	X	76918921	76918921	+	Frame_Shift_Del	DEL	T	T	-			TCGA-WY-A858-01A-11D-A36O-08	TCGA-WY-A858-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4899f0-5237-4a0e-bdcc-8b88c02e4972	8d29a469-4eb5-4bf3-9577-3a8508544daf	g.chrX:76918921delT	ENST00000373344.5	-	12	4284	c.4070delA	c.(4069-4071)aagfs	p.K1357fs	ATRX_ENST00000395603.3_Frame_Shift_Del_p.K1319fs|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1357					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)	AGGCTTTGTCTTTTTTTCTTC	0.383			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						44	111	---	---	---	---						-	76918921	T	-	76918921	7	5	507	1	0	1	0	1	0	0	0	0	1206	1609	56	0	3504	0	ATRX	23	76918921	Frame_Shift_Del	DEL	T	TCGA-WY-A858-01A-11D-A36O-08	1268970	76918921	78351639	43	38248											
COL4A5	1287	broad.mit.edu	37	X	107938545	107938545	+	Missense_Mutation	SNP	G	G	T			TCGA-WY-A858-01A-11D-A36O-08	TCGA-WY-A858-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4899f0-5237-4a0e-bdcc-8b88c02e4972	8d29a469-4eb5-4bf3-9577-3a8508544daf	g.chrX:107938545G>T	ENST00000328300.6	+	52	5114	c.4870G>T	c.(4870-4872)Ggt>Tgt	p.G1624C	COL4A5_ENST00000361603.2_Missense_Mutation_p.G1618C	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	1618	Collagen IV NC1.		Missing (in APSX).		axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						AGCCTCCCCTGGTTCCTGCTT	0.498									Alport syndrome with Diffuse Leiomyomatosis				33	99					9.93527e-08	9.93527e-08	1	1	0	T	107938545	G	T	107938545	3	4	507	1	0	0	0	0	1	0	0	0	3717	1348	47	5	5061	5	COL4A5	23	107938545	Missense_Mutation	SNP	G	TCGA-WY-A858-01A-11D-A36O-08	31019624	107938545	47332015	44	38249											
MAGEC1	9947	broad.mit.edu	37	X	140996487	140996487	+	Silent	SNP	T	T	C			TCGA-WY-A858-01A-11D-A36O-08	TCGA-WY-A858-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4899f0-5237-4a0e-bdcc-8b88c02e4972	8d29a469-4eb5-4bf3-9577-3a8508544daf	g.chrX:140996487T>C	ENST00000285879.4	+	4	3583	c.3297T>C	c.(3295-3297)ttT>ttC	p.F1099F	MAGEC1_ENST00000406005.2_Silent_p.F166F	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	1099	MAGE.						protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					CTATTACCTTTCCATCCTCTT	0.448										HNSCC(15;0.026)			53	193					0	0	1	0	0	C	140996487	T	C	140996487	2	2	507	1	0	0	0	0	0	0	0	1	9230	1780	62	3		3	MAGEC1	23	140996487	Silent	SNP	T	TCGA-WY-A858-01A-11D-A36O-08	33057942	140996487	14274073	45	38250											
MAGEA8	4107	broad.mit.edu	37	X	149013818	149013818	+	Missense_Mutation	SNP	T	T	A			TCGA-WY-A858-01A-11D-A36O-08	TCGA-WY-A858-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4899f0-5237-4a0e-bdcc-8b88c02e4972	8d29a469-4eb5-4bf3-9577-3a8508544daf	g.chrX:149013818T>A	ENST00000535454.1	+	4	1321	c.772T>A	c.(772-774)Tac>Aac	p.Y258N	MAGEA8_ENST00000542674.1_Missense_Mutation_p.Y258N|MAGEA8_ENST00000286482.1_Missense_Mutation_p.Y258N	NM_001166400.1	NP_001159872.1	P43361	MAGA8_HUMAN	melanoma antigen family A, 8	258	MAGE.									NS(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(12)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(192;6.56e-05)					GCAGGAGAACTACCTGGAGTA	0.577													34	182					0	0	1	0	0	A	149013818	T	A	149013818	3	1	507	1	0	0	0	0	1	0	0	0	9219	1522	53	5	774	5	MAGEA8	23	149013818	Missense_Mutation	SNP	T	TCGA-WY-A858-01A-11D-A36O-08	8017331	149013818	6256742	46	38251											
RPS6KA1	6195	broad.mit.edu	37	1	26898725	26898725	+	Missense_Mutation	SNP	G	G	A			TCGA-WY-A859-01A-12D-A36O-08	TCGA-WY-A859-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48bdcde-ca07-48cb-a84c-21bfc3e8ae6f	1b3c00e9-650d-46dc-93f6-d5dcd42cf17a	g.chr1:26898725G>A	ENST00000374168.2	+	20	2042	c.1888G>A	c.(1888-1890)Ggc>Agc	p.G630S	RPS6KA1_ENST00000374162.2_Missense_Mutation_p.G538S|RPS6KA1_ENST00000374166.4_Missense_Mutation_p.G619S|RPS6KA1_ENST00000530003.1_Missense_Mutation_p.G614S|RPS6KA1_ENST00000526792.1_Missense_Mutation_p.G538S|RPS6KA1_ENST00000531382.1_Missense_Mutation_p.G639S	NM_002953.3	NP_002944.2	Q15418	KS6A1_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 1	630	Protein kinase 2.				axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|caspase inhibitor activity|magnesium ion binding|protein binding|protein serine/threonine kinase activity			lung(1)	1		all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234)		AACCCGGATCGGCAGTGGGAA	0.547													9	47					0	0	1	0	0	A	26898725	G	A	26898725	3	1	508	1	0	0	0	0	1	0	0	0	13702	1116	39	1	2105	1	RPS6KA1	1	26898725	Missense_Mutation	SNP	G	TCGA-WY-A859-01A-12D-A36O-08		26898725	222351896	1	38252											
PABPC4	8761	broad.mit.edu	37	1	40029555	40029555	+	Missense_Mutation	SNP	C	C	A			TCGA-WY-A859-01A-12D-A36O-08	TCGA-WY-A859-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48bdcde-ca07-48cb-a84c-21bfc3e8ae6f	1b3c00e9-650d-46dc-93f6-d5dcd42cf17a	g.chr1:40029555C>A	ENST00000372857.3	-	11	2237	c.1445G>T	c.(1444-1446)gGg>gTg	p.G482V	PABPC4_ENST00000372862.3_Intron|PABPC4_ENST00000372856.3_Intron|PABPC4_ENST00000372858.3_Missense_Mutation_p.G498V	NM_003819.3	NP_003810.1	Q13310	PABP4_HUMAN	poly(A) binding protein, cytoplasmic 4 (inducible form)	482					blood coagulation|RNA catabolic process|RNA processing|translation	cytoplasm|ribonucleoprotein complex	nucleotide binding|poly(A) RNA binding|poly(U) RNA binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(3)	21	Lung NSC(20;1.55e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.89e-18)|Epithelial(16;6.17e-17)|all cancers(16;1.18e-15)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			GGCACCAGCCCCACCAAAGTC	0.587													11	32					0.010729	0.010729	1	1	0	A	40029555	C	A	40029555	3	1	508	1	0	0	0	0	1	0	0	0	11413	623	22	5	509	5	PABPC4	1	40029555	Missense_Mutation	SNP	C	TCGA-WY-A859-01A-12D-A36O-08	13130830	40029555	209221066	2	38253	155	2									
PABPC4	8761	broad.mit.edu	37	1	40029556	40029556	+	Missense_Mutation	SNP	C	C	A			TCGA-WY-A859-01A-12D-A36O-08	TCGA-WY-A859-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48bdcde-ca07-48cb-a84c-21bfc3e8ae6f	1b3c00e9-650d-46dc-93f6-d5dcd42cf17a	g.chr1:40029556C>A	ENST00000372857.3	-	11	2236	c.1444G>T	c.(1444-1446)Ggg>Tgg	p.G482W	PABPC4_ENST00000372862.3_Intron|PABPC4_ENST00000372856.3_Intron|PABPC4_ENST00000372858.3_Missense_Mutation_p.G498W	NM_003819.3	NP_003810.1	Q13310	PABP4_HUMAN	poly(A) binding protein, cytoplasmic 4 (inducible form)	482					blood coagulation|RNA catabolic process|RNA processing|translation	cytoplasm|ribonucleoprotein complex	nucleotide binding|poly(A) RNA binding|poly(U) RNA binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(3)	21	Lung NSC(20;1.55e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.89e-18)|Epithelial(16;6.17e-17)|all cancers(16;1.18e-15)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			GCACCAGCCCCACCAAAGTCC	0.582													11	31					0.010729	0.010729	1	1	0	A	40029556	C	A	40029556	3	1	508	1	0	0	0	0	1	0	0	0	11413	594	21	5	510	5	PABPC4	1	40029556	Missense_Mutation	SNP	C	TCGA-WY-A859-01A-12D-A36O-08	1	40029556	209221065	3	38254	155	2									
PTPRF	5792	broad.mit.edu	37	1	44010763	44010763	+	Frame_Shift_Del	DEL	C	C	-			TCGA-WY-A859-01A-12D-A36O-08	TCGA-WY-A859-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48bdcde-ca07-48cb-a84c-21bfc3e8ae6f	1b3c00e9-650d-46dc-93f6-d5dcd42cf17a	g.chr1:44010763delC	ENST00000359947.4	+	3	357	c.17delC	c.(16-18)gccfs	p.A6fs	PTPRF_ENST00000372413.3_Frame_Shift_Del_p.A6fs|PTPRF_ENST00000372414.3_Frame_Shift_Del_p.A6fs|PTPRF_ENST00000438120.1_Frame_Shift_Del_p.A6fs	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	6					transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				CCTGAGCCAGCCCCAGGGAGG	0.592													2	4	---	---	---	---						-	44010763	C	-	44010763	7	5	508	1	0	1	0	1	0	0	0	0	12853	739	26	0	19	0	PTPRF	1	44010763	Frame_Shift_Del	DEL	C	TCGA-WY-A859-01A-12D-A36O-08	3981207	44010763	205239858	4	38255											
SELENBP1	8991	broad.mit.edu	37	1	151338088	151338088	+	Missense_Mutation	SNP	A	A	G			TCGA-WY-A859-01A-12D-A36O-08	TCGA-WY-A859-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48bdcde-ca07-48cb-a84c-21bfc3e8ae6f	1b3c00e9-650d-46dc-93f6-d5dcd42cf17a	g.chr1:151338088A>G	ENST00000426705.2	-	9	1265	c.1121T>C	c.(1120-1122)cTg>cCg	p.L374P	SELENBP1_ENST00000368868.5_Missense_Mutation_p.L332P|SELENBP1_ENST00000447402.3_Missense_Mutation_p.L270P|SELENBP1_ENST00000435071.1_Missense_Mutation_p.L268P	NM_001258289.1	NP_001245218.1	Q13228	SBP1_HUMAN	selenium binding protein 1	332					protein transport	cytosol|membrane|nucleolus	protein binding|selenium binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|urinary_tract(1)	20	Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			ATACTGCCTCAGGTCCCCATG	0.592													4	97					0	0	1	0	0	G	151338088	A	G	151338088	3	3	508	1	0	0	0	0	1	0	0	0	14068	188	7	3	439	3	SELENBP1	1	151338088	Missense_Mutation	SNP	A	TCGA-WY-A859-01A-12D-A36O-08	107327325	151338088	97912533	5	38256											
SEC16B	89866	broad.mit.edu	37	1	177929520	177929520	+	Missense_Mutation	SNP	C	C	T			TCGA-WY-A859-01A-12D-A36O-08	TCGA-WY-A859-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48bdcde-ca07-48cb-a84c-21bfc3e8ae6f	1b3c00e9-650d-46dc-93f6-d5dcd42cf17a	g.chr1:177929520C>T	ENST00000308284.6	-	8	1044	c.955G>A	c.(955-957)Gaa>Aaa	p.E319K	RP4-798P15.3_ENST00000354921.3_RNA|SEC16B_ENST00000464631.2_Missense_Mutation_p.E320K	NM_033127.2	NP_149118.2	Q96JE7	SC16B_HUMAN	SEC16 homolog B (S. cerevisiae)	319					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						TCTTGCTCTTCGGAATCATTA	0.428													3	6					0	0	1	0	0	T	177929520	C	T	177929520	3	4	508	1	0	0	0	0	1	0	0	0	14041	893	31	1	2303	1	SEC16B	1	177929520	Missense_Mutation	SNP	C	TCGA-WY-A859-01A-12D-A36O-08	26591432	177929520	71321101	6	38257											
TTC30B	150737	broad.mit.edu	37	2	178416267	178416267	+	Missense_Mutation	SNP	T	T	G			TCGA-WY-A859-01A-12D-A36O-08	TCGA-WY-A859-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48bdcde-ca07-48cb-a84c-21bfc3e8ae6f	1b3c00e9-650d-46dc-93f6-d5dcd42cf17a	g.chr2:178416267T>G	ENST00000408939.3	-	1	1475	c.1225A>C	c.(1225-1227)Atc>Ctc	p.I409L		NM_152517.2	NP_689730.2	Q8N4P2	TT30B_HUMAN	tetratricopeptide repeat domain 30B						cell projection organization	cilium	binding			cervix(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	23			OV - Ovarian serous cystadenocarcinoma(117;0.00151)|Epithelial(96;0.00931)|all cancers(119;0.0362)			GCCTTTTTGATAGCTTCATCA	0.398													5	220					0	0	1	0	0	G	178416267	T	G	178416267	3	3	508	1	0	0	0	0	1	0	0	0	16761	1406	49	4	776	4	TTC30B	2	178416267	Missense_Mutation	SNP	T	TCGA-WY-A859-01A-12D-A36O-08		178416267	64783106	7	38258											
IDH1	3417	broad.mit.edu	37	2	209113113	209113113	+	Missense_Mutation	SNP	G	G	T	rs121913499		TCGA-WY-A859-01A-12D-A36O-08	TCGA-WY-A859-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48bdcde-ca07-48cb-a84c-21bfc3e8ae6f	1b3c00e9-650d-46dc-93f6-d5dcd42cf17a	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	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		TAAGCATGACGACCTATGATG	0.398			Mis		gliobastoma								30	46					5.60225e-13	6.45477e-13	1	1	0	T	209113113	G	T	209113113	3	4	508	1	0	0	0	0	1	0	0	0	7538	1058	37	5	878	5	IDH1	2	209113113	Missense_Mutation	SNP	G	TCGA-WY-A859-01A-12D-A36O-08	30696846	209113113	34086260	8	38259											
CCDC108	255101	broad.mit.edu	37	2	219869028	219869028	+	Missense_Mutation	SNP	G	G	A			TCGA-WY-A859-01A-12D-A36O-08	TCGA-WY-A859-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48bdcde-ca07-48cb-a84c-21bfc3e8ae6f	1b3c00e9-650d-46dc-93f6-d5dcd42cf17a	g.chr2:219869028G>A	ENST00000341552.5	-	33	5284	c.5201C>T	c.(5200-5202)cCc>cTc	p.P1734L	CCDC108_ENST00000453220.1_Missense_Mutation_p.P1734L|CCDC108_ENST00000441968.1_Missense_Mutation_p.P1734L|AC097468.4_ENST00000441450.1_RNA	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	1734						integral to membrane	structural molecule activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCTGCTGGAGGGTACAGGCAG	0.542													64	79					0	0	1	0	0	A	219869028	G	A	219869028	3	1	508	1	0	0	0	0	1	0	0	0	2761	1232	43	2	588	2	CCDC108	2	219869028	Missense_Mutation	SNP	G	TCGA-WY-A859-01A-12D-A36O-08	10755915	219869028	23330345	9	38260											
EVC2	132884	broad.mit.edu	37	4	5630449	5630449	+	Frame_Shift_Del	DEL	C	C	-			TCGA-WY-A859-01A-12D-A36O-08	TCGA-WY-A859-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48bdcde-ca07-48cb-a84c-21bfc3e8ae6f	1b3c00e9-650d-46dc-93f6-d5dcd42cf17a	g.chr4:5630449delC	ENST00000310917.2	-	12	2214	c.1483delG	c.(1483-1485)gagfs	p.E495fs	EVC2_ENST00000344938.1_Frame_Shift_Del_p.E575fs|EVC2_ENST00000344408.5_Frame_Shift_Del_p.E575fs	NM_001166136.1	NP_001159608.1	Q86UK5	LBN_HUMAN	Ellis van Creveld syndrome 2	575						integral to membrane				NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						TCCATTAACTCTTCTACATTC	0.328													18	41	---	---	---	---						-	5630449	C	-	5630449	7	5	508	1	0	1	0	1	0	0	0	0	5314	922	32	0	2247	0	EVC2	4	5630449	Frame_Shift_Del	DEL	C	TCGA-WY-A859-01A-12D-A36O-08		5630449	185523827	10	38261											
HLA-DMA	3108	broad.mit.edu	37	6	32918314	32918314	+	Missense_Mutation	SNP	T	T	G			TCGA-WY-A859-01A-12D-A36O-08	TCGA-WY-A859-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48bdcde-ca07-48cb-a84c-21bfc3e8ae6f	1b3c00e9-650d-46dc-93f6-d5dcd42cf17a	g.chr6:32918314T>G	ENST00000374843.4	-	2	440	c.355A>C	c.(355-357)Aaa>Caa	p.K119Q	HLA-DMA_ENST00000395303.3_Missense_Mutation_p.K119Q|HLA-DMA_ENST00000464392.1_Intron|XXbac-BPG181M17.5_ENST00000429234.1_Intron|HLA-DMA_ENST00000395305.3_Intron	NM_006120.3	NP_006111.2	Q31604	Q31604_HUMAN	major histocompatibility complex, class II, DM alpha	119						integral to membrane|MHC class II protein complex				kidney(1)|large_intestine(2)|lung(8)	11						ACCGGGATTTTCCCATCAAGT	0.488													58	75					0	0	1	0	0	G	32918314	T	G	32918314	3	3	508	1	0	0	0	0	1	0	0	0	7239	1792	62	5	446	5	HLA-DMA	6	32918314	Missense_Mutation	SNP	T	TCGA-WY-A859-01A-12D-A36O-08		32918314	138196753	11	38262											
HEY2	23493	broad.mit.edu	37	6	126080335	126080335	+	Missense_Mutation	SNP	C	C	T			TCGA-WY-A859-01A-12D-A36O-08	TCGA-WY-A859-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48bdcde-ca07-48cb-a84c-21bfc3e8ae6f	1b3c00e9-650d-46dc-93f6-d5dcd42cf17a	g.chr6:126080335C>T	ENST00000368364.3	+	5	598	c.401C>T	c.(400-402)gCg>gTg	p.A134V	HEY2_ENST00000368365.1_Missense_Mutation_p.A88V	NM_012259.2	NP_036391.1	Q9UBP5	HEY2_HUMAN	hes-related family bHLH transcription factor with YRPW motif 2	134	Orange.				negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription initiation from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|Notch signaling pathway|smooth muscle cell differentiation|transcription, DNA-dependent	transcriptional repressor complex	histone deacetylase binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding	p.A134V(2)		breast(1)|large_intestine(7)|lung(5)|prostate(1)	14				UCEC - Uterine corpus endometrioid carcinoma (4;0.0608)|GBM - Glioblastoma multiforme(226;0.0361)|all cancers(137;0.193)		ACAGAAGTTGCGCGGTACCTG	0.587													22	56					0	0	1	0	0	T	126080335	C	T	126080335	3	4	508	1	0	0	0	0	1	0	0	0	7120	768	27	1	419	1	HEY2	6	126080335	Missense_Mutation	SNP	C	TCGA-WY-A859-01A-12D-A36O-08	93162021	126080335	45034732	12	38263											
HEY2	23493	broad.mit.edu	37	6	126080565	126080565	+	Missense_Mutation	SNP	C	C	T			TCGA-WY-A859-01A-12D-A36O-08	TCGA-WY-A859-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48bdcde-ca07-48cb-a84c-21bfc3e8ae6f	1b3c00e9-650d-46dc-93f6-d5dcd42cf17a	g.chr6:126080565C>T	ENST00000368364.3	+	5	828	c.631C>T	c.(631-633)Cgc>Tgc	p.R211C	HEY2_ENST00000368365.1_Missense_Mutation_p.R165C	NM_012259.2	NP_036391.1	Q9UBP5	HEY2_HUMAN	hes-related family bHLH transcription factor with YRPW motif 2	211					negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription initiation from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|Notch signaling pathway|smooth muscle cell differentiation|transcription, DNA-dependent	transcriptional repressor complex	histone deacetylase binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding			breast(1)|large_intestine(7)|lung(5)|prostate(1)	14				UCEC - Uterine corpus endometrioid carcinoma (4;0.0608)|GBM - Glioblastoma multiforme(226;0.0361)|all cancers(137;0.193)		AACCCCTTGTCGCCTCTCCAC	0.657													11	153					0	0	1	0	0	T	126080565	C	T	126080565	3	4	508	1	0	0	0	0	1	0	0	0	7120	884	31	1	649	1	HEY2	6	126080565	Missense_Mutation	SNP	C	TCGA-WY-A859-01A-12D-A36O-08	230	126080565	45034502	13	38264											
VIP	7432	broad.mit.edu	37	6	153075402	153075402	+	Missense_Mutation	SNP	C	C	A			TCGA-WY-A859-01A-12D-A36O-08	TCGA-WY-A859-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48bdcde-ca07-48cb-a84c-21bfc3e8ae6f	1b3c00e9-650d-46dc-93f6-d5dcd42cf17a	g.chr6:153075402C>A	ENST00000367244.3	+	3	381	c.209C>A	c.(208-210)aCa>aAa	p.T70K	VIP_ENST00000367243.3_Missense_Mutation_p.T70K	NM_003381.3	NP_003372.1	P01282	VIP_HUMAN	vasoactive intestinal peptide	70					body fluid secretion|G-protein coupled receptor protein signaling pathway|positive regulation of cell proliferation	extracellular region	neuropeptide hormone activity			haematopoietic_and_lymphoid_tissue(1)|lung(4)|skin(1)	6		Ovarian(120;0.0654)		OV - Ovarian serous cystadenocarcinoma(155;4.5e-11)|BRCA - Breast invasive adenocarcinoma(81;0.144)		GAAAATGACACACCCTATTAT	0.313													13	39					4.14922e-12	4.6789e-12	1	1	0	A	153075402	C	A	153075402	3	1	508	1	0	0	0	0	1	0	0	0	17227	478	17	5	215	5	VIP	6	153075402	Missense_Mutation	SNP	C	TCGA-WY-A859-01A-12D-A36O-08	26994837	153075402	18039665	14	38265											
SUN1	23353	broad.mit.edu	37	7	893044	893044	+	Splice_Site	SNP	A	A	G			TCGA-WY-A859-01A-12D-A36O-08	TCGA-WY-A859-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48bdcde-ca07-48cb-a84c-21bfc3e8ae6f	1b3c00e9-650d-46dc-93f6-d5dcd42cf17a	g.chr7:893044A>G	ENST00000456758.2	+	16	1620		c.e16-1		SUN1_ENST00000413514.2_Splice_Site|SUN1_ENST00000401592.1_Splice_Site|SUN1_ENST00000389574.3_Splice_Site|SUN1_ENST00000405266.1_Splice_Site|SUN1_ENST00000452783.2_Splice_Site|SUN1_ENST00000425407.2_Splice_Site			O94901	SUN1_HUMAN	Sad1 and UNC84 domain containing 1						cytoskeletal anchoring at nuclear membrane|nuclear matrix anchoring at nuclear membrane	integral to membrane|nuclear inner membrane|SUN-KASH complex	protein binding			NS(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TTGCCATTTCAGGGTGACAGT	0.527													4	44					0	0	1	0	0	G	893044	A	G	893044	5	3	508	1	0	0	0	0	0	0	1	0	15447	202	7	3	1273	3	SUN1	7	893044	Splice_Site	SNP	A	TCGA-WY-A859-01A-12D-A36O-08		893044	158245619	15	38266											
LRCH4	4034	broad.mit.edu	37	7	100173893	100173893	+	Missense_Mutation	SNP	C	C	T			TCGA-WY-A859-01A-12D-A36O-08	TCGA-WY-A859-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48bdcde-ca07-48cb-a84c-21bfc3e8ae6f	1b3c00e9-650d-46dc-93f6-d5dcd42cf17a	g.chr7:100173893C>T	ENST00000310300.6	-	15	1658	c.1606G>A	c.(1606-1608)Gat>Aat	p.D536N	LRCH4_ENST00000497245.1_Missense_Mutation_p.D84N	NM_002319.3	NP_002310.2	O75427	LRCH4_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 4	536	CH.				nervous system development	PML body	protein binding			NS(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	23	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TCCTTCTCATCTGGAACCTGG	0.637													12	14					0	0	1	0	0	T	100173893	C	T	100173893	3	4	508	1	0	0	0	0	1	0	0	0	8980	913	32	2	461	2	LRCH4	7	100173893	Missense_Mutation	SNP	C	TCGA-WY-A859-01A-12D-A36O-08	99280849	100173893	58964770	16	38267											
GNB2	2783	broad.mit.edu	37	7	100275813	100275813	+	Missense_Mutation	SNP	G	G	A	rs139214321		TCGA-WY-A859-01A-12D-A36O-08	TCGA-WY-A859-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48bdcde-ca07-48cb-a84c-21bfc3e8ae6f	1b3c00e9-650d-46dc-93f6-d5dcd42cf17a	g.chr7:100275813G>A	ENST00000303210.4	+	8	1072	c.590G>A	c.(589-591)cGc>cAc	p.R197H	GNB2_ENST00000424361.1_Missense_Mutation_p.R153H|GNB2_ENST00000419828.1_Missense_Mutation_p.R97H|GNB2_ENST00000436220.1_Missense_Mutation_p.R153H|GNB2_ENST00000393924.1_Missense_Mutation_p.R197H|GNB2_ENST00000427895.1_Missense_Mutation_p.R97H|GNB2_ENST00000393926.1_Missense_Mutation_p.R197H	NM_005273.3	NP_005264.2	P62879	GBB2_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 2	197					cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|synaptic transmission	perinuclear region of cytoplasm|plasma membrane	GTPase activity|GTPase binding|signal transducer activity			endometrium(1)|lung(3)|ovary(2)|prostate(1)	7	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)	Ovarian(593;0.238)				CCCGATGGCCGCACGTTTGTG	0.587													4	105					0	0	1	0	0	A	100275813	G	A	100275813	3	1	508	1	0	0	0	0	1	0	0	0	6559	1087	38	1	616	1	GNB2	7	100275813	Missense_Mutation	SNP	G	TCGA-WY-A859-01A-12D-A36O-08	101920	100275813	58862850	17	38268											
MUC17	140453	broad.mit.edu	37	7	100676909	100676909	+	Missense_Mutation	SNP	C	C	T			TCGA-WY-A859-01A-12D-A36O-08	TCGA-WY-A859-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48bdcde-ca07-48cb-a84c-21bfc3e8ae6f	1b3c00e9-650d-46dc-93f6-d5dcd42cf17a	g.chr7:100676909C>T	ENST00000306151.4	+	3	2276	c.2212C>T	c.(2212-2214)Cca>Tca	p.P738S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	738	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	p.P738S(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TGCCAGTATGCCAACCTCAAC	0.502													6	403					0	0	1	0	0	T	100676909	C	T	100676909	3	4	508	1	0	0	0	0	1	0	0	0	10022	739	26	2	2222	2	MUC17	7	100676909	Missense_Mutation	SNP	C	TCGA-WY-A859-01A-12D-A36O-08	401096	100676909	58461754	18	38269											
TSPAN33	340348	broad.mit.edu	37	7	128804401	128804401	+	Silent	SNP	C	C	T			TCGA-WY-A859-01A-12D-A36O-08	TCGA-WY-A859-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48bdcde-ca07-48cb-a84c-21bfc3e8ae6f	1b3c00e9-650d-46dc-93f6-d5dcd42cf17a	g.chr7:128804401C>T	ENST00000289407.4	+	5	559	c.450C>T	c.(448-450)ggC>ggT	p.G150G		NM_178562.3	NP_848657.1	Q86UF1	TSN33_HUMAN	tetraspanin 33	150						integral to membrane		p.G150G(1)		NS(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	14						TTGATTTTGGCCAGAAAAAGG	0.512											OREG0018304	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	46					0	0	1	0	0	T	128804401	C	T	128804401	2	4	508	1	0	0	0	0	0	0	0	1	16709	726	26	2		2	TSPAN33	7	128804401	Silent	SNP	C	TCGA-WY-A859-01A-12D-A36O-08	28127492	128804401	30334262	19	38270											
IFNA6	3443	broad.mit.edu	37	9	21350375	21350375	+	Missense_Mutation	SNP	A	A	G			TCGA-WY-A859-01A-12D-A36O-08	TCGA-WY-A859-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48bdcde-ca07-48cb-a84c-21bfc3e8ae6f	1b3c00e9-650d-46dc-93f6-d5dcd42cf17a	g.chr9:21350375A>G	ENST00000380210.1	-	1	1002	c.512T>C	c.(511-513)aTc>aCc	p.I171T		NM_021002.2	NP_066282.1	P05013	IFNA6_HUMAN	interferon, alpha 6	171					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding			large_intestine(3)|lung(7)|skin(1)	11				Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116)		GGATCTCATGATTTCTGCTCT	0.448													60	205					0	0	1	0	0	G	21350375	A	G	21350375	3	3	508	1	0	0	0	0	1	0	0	0	7585	333	12	3	59	3	IFNA6	9	21350375	Missense_Mutation	SNP	A	TCGA-WY-A859-01A-12D-A36O-08		21350375	119863056	20	38271											
OLFML2A	169611	broad.mit.edu	37	9	127549423	127549423	+	Missense_Mutation	SNP	G	G	A			TCGA-WY-A859-01A-12D-A36O-08	TCGA-WY-A859-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48bdcde-ca07-48cb-a84c-21bfc3e8ae6f	1b3c00e9-650d-46dc-93f6-d5dcd42cf17a	g.chr9:127549423G>A	ENST00000373580.3	+	2	260	c.260G>A	c.(259-261)cGc>cAc	p.R87H		NM_182487.2	NP_872293.2	Q68BL7	OLM2A_HUMAN	olfactomedin-like 2A	87										endometrium(5)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	25						ACTGACTGCCGCTGCTCCTGT	0.627													9	18					0	0	1	0	0	A	127549423	G	A	127549423	3	1	508	1	0	0	0	0	1	0	0	0	10905	1087	38	1	266	1	OLFML2A	9	127549423	Missense_Mutation	SNP	G	TCGA-WY-A859-01A-12D-A36O-08	106199048	127549423	13664008	21	38272											
NUP188	23511	broad.mit.edu	37	9	131755536	131755536	+	Missense_Mutation	SNP	T	T	C			TCGA-WY-A859-01A-12D-A36O-08	TCGA-WY-A859-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48bdcde-ca07-48cb-a84c-21bfc3e8ae6f	1b3c00e9-650d-46dc-93f6-d5dcd42cf17a	g.chr9:131755536T>C	ENST00000372577.2	+	26	2722	c.2701T>C	c.(2701-2703)Ttc>Ctc	p.F901L		NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	901					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						TCGTGATGCCTTCCTGACCCG	0.532											OREG0019527	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	91					0	0	1	0	0	C	131755536	T	C	131755536	3	2	508	1	0	0	0	0	1	0	0	0	10806	1609	56	3	2803	3	NUP188	9	131755536	Missense_Mutation	SNP	T	TCGA-WY-A859-01A-12D-A36O-08	4206113	131755536	9457895	22	38273											
OR4D11	219986	broad.mit.edu	37	11	59271628	59271628	+	Missense_Mutation	SNP	G	G	T			TCGA-WY-A859-01A-12D-A36O-08	TCGA-WY-A859-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48bdcde-ca07-48cb-a84c-21bfc3e8ae6f	1b3c00e9-650d-46dc-93f6-d5dcd42cf17a	g.chr11:59271628G>T	ENST00000313253.1	+	1	580	c.580G>T	c.(580-582)Gct>Tct	p.A194S		NM_001004706.1	NP_001004706.1	Q8NGI4	OR4DB_HUMAN	olfactory receptor, family 4, subfamily D, member 11	194					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29						TGACACTTTTGCTCTTGAGTT	0.493													39	62					2.87052e-16	3.38083e-16	1	1	0	T	59271628	G	T	59271628	3	4	508	1	0	0	0	0	1	0	0	0	11103	1319	46	5	582	5	OR4D11	11	59271628	Missense_Mutation	SNP	G	TCGA-WY-A859-01A-12D-A36O-08		59271628	75734888	23	38274											
DCP1B	196513	broad.mit.edu	37	12	2062420	2062420	+	Missense_Mutation	SNP	G	G	C			TCGA-WY-A859-01A-12D-A36O-08	TCGA-WY-A859-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48bdcde-ca07-48cb-a84c-21bfc3e8ae6f	1b3c00e9-650d-46dc-93f6-d5dcd42cf17a	g.chr12:2062420G>C	ENST00000280665.6	-	7	765	c.686C>G	c.(685-687)aCa>aGa	p.T229R	DCP1B_ENST00000541700.1_5'UTR|DCP1B_ENST00000397173.4_Missense_Mutation_p.T127R|DCP1B_ENST00000540622.1_Missense_Mutation_p.T103R	NM_152640.3	NP_689853.3	Q8IZD4	DCP1B_HUMAN	decapping mRNA 1B	229					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|nucleus	hydrolase activity|protein binding			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00193)			AAACAGAGCTGTCAAGGATAA	0.473													17	21					0	0	1	0	0	C	2062420	G	C	2062420	3	2	508	1	0	0	0	0	1	0	0	0	4322	1377	48	5	1179	5	DCP1B	12	2062420	Missense_Mutation	SNP	G	TCGA-WY-A859-01A-12D-A36O-08		2062420	131789475	24	38275											
TRPC4	7223	broad.mit.edu	37	13	38357404	38357404	+	Missense_Mutation	SNP	C	C	A			TCGA-WY-A859-01A-12D-A36O-08	TCGA-WY-A859-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48bdcde-ca07-48cb-a84c-21bfc3e8ae6f	1b3c00e9-650d-46dc-93f6-d5dcd42cf17a	g.chr13:38357404C>A	ENST00000379705.3	-	2	924	c.67G>T	c.(67-69)Gta>Tta	p.V23L	TRPC4_ENST00000338947.5_Missense_Mutation_p.V23L|TRPC4_ENST00000379673.2_Missense_Mutation_p.V23L|TRPC4_ENST00000358477.2_Missense_Mutation_p.V23L|TRPC4_ENST00000379679.1_Missense_Mutation_p.V23L|TRPC4_ENST00000447043.1_Missense_Mutation_p.V23L|TRPC4_ENST00000379681.3_Missense_Mutation_p.V23L|TRPC4_ENST00000426868.2_Missense_Mutation_p.V23L|TRPC4_ENST00000355779.2_Missense_Mutation_p.V23L			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	23					axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		TCTGCTCTTACTATCCTTAGA	0.423													15	85					4.7546e-09	5.24988e-09	1	1	0	A	38357404	C	A	38357404	3	1	508	1	0	0	0	0	1	0	0	0	16641	565	20	4	2921	4	TRPC4	13	38357404	Missense_Mutation	SNP	C	TCGA-WY-A859-01A-12D-A36O-08		38357404	76812474	25	38276											
NEIL1	79661	broad.mit.edu	37	15	75641378	75641378	+	Silent	SNP	C	C	G			TCGA-WY-A859-01A-12D-A36O-08	TCGA-WY-A859-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48bdcde-ca07-48cb-a84c-21bfc3e8ae6f	1b3c00e9-650d-46dc-93f6-d5dcd42cf17a	g.chr15:75641378C>G	ENST00000564784.1	+	3	761	c.132C>G	c.(130-132)gcC>gcG	p.A44A	NEIL1_ENST00000355059.4_Silent_p.A44A|NEIL1_ENST00000569035.1_Silent_p.A44A|NEIL1_ENST00000567959.1_Intron			Q96FI4	NEIL1_HUMAN	nei endonuclease VIII-like 1 (E. coli)	44					base-excision repair|negative regulation of nuclease activity|nucleotide-excision repair|response to oxidative stress	cytoplasm|nucleus	damaged DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|protein C-terminus binding|zinc ion binding			breast(2)|endometrium(2)|large_intestine(4)|lung(4)|ovary(1)	13						AGAGCAGTGCCTACCGCATCT	0.652								Base excision repair (BER), DNA glycosylases					15	33					0	0	1	0	0	G	75641378	C	G	75641378	2	3	508	1	0	0	0	0	0	0	0	1	10365	668	24	4		4	NEIL1	15	75641378	Silent	SNP	C	TCGA-WY-A859-01A-12D-A36O-08		75641378	26890014	26	38277											
ZNF629	23361	broad.mit.edu	37	16	30793291	30793291	+	Missense_Mutation	SNP	G	G	C			TCGA-WY-A859-01A-12D-A36O-08	TCGA-WY-A859-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48bdcde-ca07-48cb-a84c-21bfc3e8ae6f	1b3c00e9-650d-46dc-93f6-d5dcd42cf17a	g.chr16:30793291G>C	ENST00000262525.4	-	3	2565	c.2358C>G	c.(2356-2358)caC>caG	p.H786Q		NM_001080417.1	NP_001073886.1	Q9UEG4	ZN629_HUMAN	zinc finger protein 629	786					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(3)|urinary_tract(1)	22			Colorectal(24;0.198)			GGGTTTCTTGGTGCCGGGTGA	0.657													47	85					0	0	1	0	0	C	30793291	G	C	30793291	3	2	508	1	0	0	0	0	1	0	0	0	18110	1252	44	5	255	5	ZNF629	16	30793291	Missense_Mutation	SNP	G	TCGA-WY-A859-01A-12D-A36O-08		30793291	59561462	27	38278											
N4BP1	9683	broad.mit.edu	37	16	48595409	48595409	+	Missense_Mutation	SNP	T	T	A			TCGA-WY-A859-01A-12D-A36O-08	TCGA-WY-A859-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48bdcde-ca07-48cb-a84c-21bfc3e8ae6f	1b3c00e9-650d-46dc-93f6-d5dcd42cf17a	g.chr16:48595409T>A	ENST00000262384.3	-	2	1381	c.1145A>T	c.(1144-1146)gAg>gTg	p.E382V	RP11-44I10.3_ENST00000563994.1_RNA	NM_153029.3	NP_694574.3	O75113	N4BP1_HUMAN	NEDD4 binding protein 1	382					negative regulation of proteasomal ubiquitin-dependent protein catabolic process|negative regulation of protein ubiquitination	nucleolus|PML body				breast(3)|kidney(2)|lung(11)|urinary_tract(1)	17		all_cancers(37;0.179)|all_lung(18;0.11)				TTCAATTTCCTCTAAGAGCAA	0.343													18	38					0	0	1	0	0	A	48595409	T	A	48595409	3	1	508	1	0	0	0	0	1	0	0	0	10157	1551	54	5	1569	5	N4BP1	16	48595409	Missense_Mutation	SNP	T	TCGA-WY-A859-01A-12D-A36O-08	17802118	48595409	41759344	28	38279											
TP53	7157	broad.mit.edu	37	17	7577539	7577539	+	Missense_Mutation	SNP	G	G	A	rs121912651		TCGA-WY-A859-01A-12D-A36O-08	TCGA-WY-A859-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48bdcde-ca07-48cb-a84c-21bfc3e8ae6f	1b3c00e9-650d-46dc-93f6-d5dcd42cf17a	g.chr17:7577539G>A	ENST00000420246.2	-	7	874	c.742C>T	c.(742-744)Cgg>Tgg	p.R248W	TP53_ENST00000455263.2_Missense_Mutation_p.R248W|TP53_ENST00000359597.4_Missense_Mutation_p.R248W|TP53_ENST00000413465.2_Missense_Mutation_p.R248W|TP53_ENST00000445888.2_Missense_Mutation_p.R248W|TP53_ENST00000269305.4_Missense_Mutation_p.R248W	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	248	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R248W(544)|p.R155W(28)|p.R248G(12)|p.0?(8)|p.?(5)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.N247_R248>KW(2)|p.M246_P250delMNRRP(2)|p.R248fs*97(2)|p.R248R(2)|p.R248fs*>39(1)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(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)		ATGGGCCTCCGGTTCATGCCG	0.577	R248W(786O_KIDNEY)|R248W(CAS1_CENTRAL_NERVOUS_SYSTEM)|R248W(COLO320_LARGE_INTESTINE)|R248W(COLO680N_OESOPHAGUS)|R248W(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(GCT_SOFT_TISSUE)|R248W(HCC2157_BREAST)|R248W(JIMT1_BREAST)|R248W(KO52_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(LUDLU1_LUNG)|R248W(LXF289_LUNG)|R248W(MIAPACA2_PANCREAS)|R248W(RD_SOFT_TISSUE)|R248W(SW837_LARGE_INTESTINE)|R248W(VCAP_PROSTATE)	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)			31	5					0	0	1	0	0	A	7577539	G	A	7577539	3	1	508	1	0	0	0	0	1	0	0	0	16442	1115	39	1	548	1	TP53	17	7577539	Missense_Mutation	SNP	G	TCGA-WY-A859-01A-12D-A36O-08		7577539	73617671	29	38280											
MRPL38	64978	broad.mit.edu	37	17	73895047	73895047	+	Missense_Mutation	SNP	C	C	T			TCGA-WY-A859-01A-12D-A36O-08	TCGA-WY-A859-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48bdcde-ca07-48cb-a84c-21bfc3e8ae6f	1b3c00e9-650d-46dc-93f6-d5dcd42cf17a	g.chr17:73895047C>T	ENST00000309352.3	-	9	1564	c.1027G>A	c.(1027-1029)Gag>Aag	p.E343K	RP11-552F3.10_ENST00000587267.1_RNA|MRPL38_ENST00000409963.3_Missense_Mutation_p.E159K	NM_032478.3	NP_115867.2	Q96DV4	RM38_HUMAN	mitochondrial ribosomal protein L38	343						actin cytoskeleton|mitochondrion|ribosome				ovary(1)|pancreas(1)|prostate(2)|skin(1)	5			all cancers(21;0.000154)|Epithelial(20;0.000156)|BRCA - Breast invasive adenocarcinoma(9;0.00936)|LUSC - Lung squamous cell carcinoma(166;0.154)			CGCACGAACTCAAACACCGGC	0.682													4	21					0	0	1	0	0	T	73895047	C	T	73895047	3	4	508	1	0	0	0	0	1	0	0	0	9850	835	29	2	119	2	MRPL38	17	73895047	Missense_Mutation	SNP	C	TCGA-WY-A859-01A-12D-A36O-08	66317508	73895047	7300163	30	38281											
MUC16	94025	broad.mit.edu	37	19	9087491	9087491	+	Missense_Mutation	SNP	G	G	A			TCGA-WY-A859-01A-12D-A36O-08	TCGA-WY-A859-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48bdcde-ca07-48cb-a84c-21bfc3e8ae6f	1b3c00e9-650d-46dc-93f6-d5dcd42cf17a	g.chr19:9087491G>A	ENST00000397910.4	-	1	4527	c.4324C>T	c.(4324-4326)Ccc>Tcc	p.P1442S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1442	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGGACCAGGGGTTCCCCTGGG	0.522													12	66					0	0	1	0	0	A	9087491	G	A	9087491	3	1	508	1	0	0	0	0	1	0	0	0	10021	1261	44	2	39535	2	MUC16	19	9087491	Missense_Mutation	SNP	G	TCGA-WY-A859-01A-12D-A36O-08		9087491	50041492	31	38282											
KRTDAP	388533	broad.mit.edu	37	19	35979707	35979707	+	Silent	SNP	G	G	T			TCGA-WY-A859-01A-12D-A36O-08	TCGA-WY-A859-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48bdcde-ca07-48cb-a84c-21bfc3e8ae6f	1b3c00e9-650d-46dc-93f6-d5dcd42cf17a	g.chr19:35979707G>T	ENST00000338897.3	-	2	211	c.123C>A	c.(121-123)ccC>ccA	p.P41P	KRTDAP_ENST00000479340.1_5'UTR|KRTDAP_ENST00000484218.2_Silent_p.P41P	NM_207392.2	NP_997275.1	P60985	KTDAP_HUMAN	keratinocyte differentiation-associated protein	41					cell differentiation	extracellular region				breast(1)|lung(4)|prostate(1)	6	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			GGCTTACCTCGGGTCGTGACG	0.552													4	14					0.00024832	0.000263219	1	1	0	T	35979707	G	T	35979707	2	4	508	1	0	0	0	0	0	0	0	1	8619	1103	39	5		5	KRTDAP	19	35979707	Silent	SNP	G	TCGA-WY-A859-01A-12D-A36O-08	26892216	35979707	23149276	32	38283											
PIWIL3	440822	broad.mit.edu	37	22	25145722	25145722	+	Missense_Mutation	SNP	T	T	C			TCGA-WY-A859-01A-12D-A36O-08	TCGA-WY-A859-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48bdcde-ca07-48cb-a84c-21bfc3e8ae6f	1b3c00e9-650d-46dc-93f6-d5dcd42cf17a	g.chr22:25145722T>C	ENST00000332271.5	-	10	1570	c.1154A>G	c.(1153-1155)aAg>aGg	p.K385R	PIWIL3_ENST00000527701.1_Missense_Mutation_p.K276R|PIWIL3_ENST00000532537.2_5'UTR|PIWIL3_ENST00000533313.1_Missense_Mutation_p.K276R	NM_001008496.3|NM_001255975.1	NP_001008496.2|NP_001242904.1	Q7Z3Z3	PIWL3_HUMAN	piwi-like RNA-mediated gene silencing 3	385	PAZ.				cell differentiation|gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatogenesis	cytoplasm	RNA binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						CGTTAGGCCCTTTTTCCATCT	0.468													3	53					0	0	1	0	0	C	25145722	T	C	25145722	3	2	508	1	0	0	0	0	1	0	0	0	12007	1609	56	3	1542	3	PIWIL3	22	25145722	Missense_Mutation	SNP	T	TCGA-WY-A859-01A-12D-A36O-08		25145722	26158844	33	38284											
NHS	4810	broad.mit.edu	37	X	17750115	17750115	+	Missense_Mutation	SNP	G	G	T			TCGA-WY-A859-01A-12D-A36O-08	TCGA-WY-A859-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48bdcde-ca07-48cb-a84c-21bfc3e8ae6f	1b3c00e9-650d-46dc-93f6-d5dcd42cf17a	g.chrX:17750115G>T	ENST00000380060.3	+	8	4762	c.4424G>T	c.(4423-4425)aGc>aTc	p.S1475I	NHS_ENST00000398097.3_Missense_Mutation_p.S1319I	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	1475						nucleus				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					ACCCCCAACAGCCAGAGGTCT	0.498													40	85					5.43694e-19	6.54904e-19	1	1	0	T	17750115	G	T	17750115	3	4	508	1	0	0	0	0	1	0	0	0	10458	971	34	4	4559	4	NHS	23	17750115	Missense_Mutation	SNP	G	TCGA-WY-A859-01A-12D-A36O-08		17750115	137520445	34	38285											
APOO	79135	broad.mit.edu	37	X	23899026	23899026	+	Missense_Mutation	SNP	G	G	T			TCGA-WY-A859-01A-12D-A36O-08	TCGA-WY-A859-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48bdcde-ca07-48cb-a84c-21bfc3e8ae6f	1b3c00e9-650d-46dc-93f6-d5dcd42cf17a	g.chrX:23899026G>T	ENST00000379226.4	-	2	284	c.53C>A	c.(52-54)aCc>aAc	p.T18N	APOO_ENST00000379220.3_Missense_Mutation_p.T18N	NM_024122.4	NP_077027.1	Q9BUR5	APOO_HUMAN	apolipoprotein O	18					lipid transport	high-density lipoprotein particle|integral to membrane|low-density lipoprotein particle|very-low-density lipoprotein particle				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(5)|prostate(1)	9						GACTTTGAAGGTGAGCAAGCT	0.448													5	28					1.23904e-05	1.34019e-05	1	1	0	T	23899026	G	T	23899026	3	4	508	1	0	0	0	0	1	0	0	0	810	1261	44	5	571	5	APOO	23	23899026	Missense_Mutation	SNP	G	TCGA-WY-A859-01A-12D-A36O-08	6148911	23899026	131371534	35	38286											
FAM47C	442444	broad.mit.edu	37	X	37028425	37028425	+	Missense_Mutation	SNP	A	A	G	rs145580328	byFrequency	TCGA-WY-A859-01A-12D-A36O-08	TCGA-WY-A859-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48bdcde-ca07-48cb-a84c-21bfc3e8ae6f	1b3c00e9-650d-46dc-93f6-d5dcd42cf17a	g.chrX:37028425A>G	ENST00000358047.3	+	1	1994	c.1942A>G	c.(1942-1944)Aat>Gat	p.N648D		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	648								p.N648D(7)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						GGAGCCTCCCAATACTGGAGT	0.642													6	119					0	0	1	0	0	G	37028425	A	G	37028425	3	3	508	1	0	0	0	0	1	0	0	0	5607	130	5	3	1944	3	FAM47C	23	37028425	Missense_Mutation	SNP	A	TCGA-WY-A859-01A-12D-A36O-08	13129399	37028425	118242135	36	38287											
MID1IP1	58526	broad.mit.edu	37	X	38664286	38664286	+	Missense_Mutation	SNP	C	C	G			TCGA-WY-A859-01A-12D-A36O-08	TCGA-WY-A859-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48bdcde-ca07-48cb-a84c-21bfc3e8ae6f	1b3c00e9-650d-46dc-93f6-d5dcd42cf17a	g.chrX:38664286C>G	ENST00000336949.6	+	2	1032	c.87C>G	c.(85-87)gaC>gaG	p.D29E	MID1IP1_ENST00000378474.3_Missense_Mutation_p.D29E|MID1IP1_ENST00000457894.1_Missense_Mutation_p.D29E	NM_021242.4	NP_067065.1	Q9NPA3	M1IP1_HUMAN	MID1 interacting protein 1	29					lipid biosynthetic process|negative regulation of microtubule depolymerization|positive regulation of fatty acid biosynthetic process|positive regulation of ligase activity|protein polymerization	cytosol|microtubule|nucleus				kidney(1)|large_intestine(3)|lung(2)|prostate(1)	7						ACAACATGGACCAGACGGTGA	0.612													18	37					0	0	1	0	0	G	38664286	C	G	38664286	3	3	508	1	0	0	0	0	1	0	0	0	9625	506	18	5	89	5	MID1IP1	23	38664286	Missense_Mutation	SNP	C	TCGA-WY-A859-01A-12D-A36O-08	1635861	38664286	116606274	37	38288											
ATP7A	538	broad.mit.edu	37	X	77245264	77245264	+	Silent	SNP	C	C	T			TCGA-WY-A859-01A-12D-A36O-08	TCGA-WY-A859-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48bdcde-ca07-48cb-a84c-21bfc3e8ae6f	1b3c00e9-650d-46dc-93f6-d5dcd42cf17a	g.chrX:77245264C>T	ENST00000341514.6	+	4	1301	c.1146C>T	c.(1144-1146)aaC>aaT	p.N382N	ATP7A_ENST00000343533.5_Silent_p.N382N|ATP7A_ENST00000350425.4_Intron	NM_000052.5	NP_000043.4	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	382	HMA 4.				ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53						CTGTGATAAACATTGATGGCA	0.423													110	59					0	0	1	0	0	T	77245264	C	T	77245264	2	4	508	1	0	0	0	0	0	0	0	1	1188	477	17	2		2	ATP7A	23	77245264	Silent	SNP	C	TCGA-WY-A859-01A-12D-A36O-08	38580978	77245264	78025296	38	38289											
ARHGEF19	128272	broad.mit.edu	37	1	16528979	16528979	+	Silent	SNP	G	G	A			TCGA-WY-A85A-01A-21D-A36O-08	TCGA-WY-A85A-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa4097c-34b5-440e-881b-a31f4903228e	76f195e9-0e81-4250-9926-30deb4f65346	g.chr1:16528979G>A	ENST00000270747.3	-	13	2134	c.1998C>T	c.(1996-1998)caC>caT	p.H666H	ARHGEF19_ENST00000478117.1_5'UTR	NM_153213.3	NP_694945.2	Q8IW93	ARHGJ_HUMAN	Rho guanine nucleotide exchange factor (GEF) 19	666	PH.				regulation of actin cytoskeleton organization	intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(1)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|Colorectal(212;3.48e-07)|COAD - Colon adenocarcinoma(227;2.19e-05)|BRCA - Breast invasive adenocarcinoma(304;9.46e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0117)|READ - Rectum adenocarcinoma(331;0.0649)		GGAGGAACACGTGGCCGGGGA	0.642													13	27					0	0	1	0	0	A	16528979	G	A	16528979	2	1	509	1	0	0	0	0	0	0	0	1	899	1136	40	1		1	ARHGEF19	1	16528979	Silent	SNP	G	TCGA-WY-A85A-01A-21D-A36O-08		16528979	232721642	1	38290											
MUTYH	4595	broad.mit.edu	37	1	45796886	45796886	+	Frame_Shift_Del	DEL	G	G	-			TCGA-WY-A85A-01A-21D-A36O-08	TCGA-WY-A85A-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa4097c-34b5-440e-881b-a31f4903228e	76f195e9-0e81-4250-9926-30deb4f65346	g.chr1:45796886delG	ENST00000450313.1	-	14	1659	c.1444delC	c.(1444-1446)cacfs	p.H482fs	MUTYH_ENST00000528013.2_Frame_Shift_Del_p.H468fs|MUTYH_ENST00000456914.2_Frame_Shift_Del_p.H454fs|MUTYH_ENST00000372100.5_Frame_Shift_Del_p.H465fs|MUTYH_ENST00000372104.1_Frame_Shift_Del_p.H454fs|MUTYH_ENST00000448481.1_Frame_Shift_Del_p.H465fs|MUTYH_ENST00000372110.3_Frame_Shift_Del_p.H469fs|MUTYH_ENST00000354383.6_Frame_Shift_Del_p.H455fs|MUTYH_ENST00000355498.2_Frame_Shift_Del_p.H454fs|MUTYH_ENST00000372098.3_Frame_Shift_Del_p.H479fs|MUTYH_ENST00000372115.3_Frame_Shift_Del_p.H468fs|MUTYH_ENST00000531105.1_Intron|MUTYH_ENST00000529984.1_Frame_Shift_Del_p.H149fs|MUTYH_ENST00000488731.2_Frame_Shift_Del_p.H149fs|MUTYH_ENST00000528332.2_Frame_Shift_Del_p.H163fs	NM_001128425.1|NM_012222.2	NP_001121897.1|NP_036354.1	Q9UIF7	MUTYH_HUMAN	mutY homolog	479	Nudix hydrolase.				depurination|mismatch repair	nucleoplasm	4 iron, 4 sulfur cluster binding|DNA N-glycosylase activity|endonuclease activity|metal ion binding|MutSalpha complex binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.155)					GCTGCGGTGTGAAATTCCTCC	0.488			Mis			colorectal		Base excision repair (BER), DNA glycosylases	MUTYH-associated polyposis				28	43	---	---	---	---						-	45796886	G	-	45796886	7	5	509	1	0	1	0	1	0	0	0	0	10041	1290	45	0	217	0	MUTYH	1	45796886	Frame_Shift_Del	DEL	G	TCGA-WY-A85A-01A-21D-A36O-08	29267907	45796886	203453735	2	38291											
STIL	6491	broad.mit.edu	37	1	47748073	47748073	+	Missense_Mutation	SNP	C	C	T			TCGA-WY-A85A-01A-21D-A36O-08	TCGA-WY-A85A-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa4097c-34b5-440e-881b-a31f4903228e	76f195e9-0e81-4250-9926-30deb4f65346	g.chr1:47748073C>T	ENST00000360380.3	-	12	1555	c.1192G>A	c.(1192-1194)Gaa>Aaa	p.E398K	STIL_ENST00000243182.6_Missense_Mutation_p.E398K|STIL_ENST00000396221.2_Missense_Mutation_p.E398K|STIL_ENST00000337817.5_Missense_Mutation_p.E398K|STIL_ENST00000371877.3_Missense_Mutation_p.E398K	NM_001282936.1	NP_001269865.1	Q15468	STIL_HUMAN	SCL/TAL1 interrupting locus	398					cell proliferation|multicellular organismal development	centrosome|cytosol				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	36		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)				TCTTCATCTTCAACACCAGAG	0.408													21	73					0	0	1	0	0	T	47748073	C	T	47748073	3	4	509	1	0	0	0	0	1	0	0	0	15338	835	29	2	2702	2	STIL	1	47748073	Missense_Mutation	SNP	C	TCGA-WY-A85A-01A-21D-A36O-08	1951187	47748073	201502548	3	38292											
COL11A1	1301	broad.mit.edu	37	1	103548438	103548441	+	Frame_Shift_Del	DEL	TTCT	TTCT	-			TCGA-WY-A85A-01A-21D-A36O-08	TCGA-WY-A85A-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa4097c-34b5-440e-881b-a31f4903228e	76f195e9-0e81-4250-9926-30deb4f65346	g.chr1:103548438_103548441delTTCT	ENST00000358392.2	-	2	511_514	c.194_197delAGAA	c.(193-198)aagaatfs	p.KN65fs	COL11A1_ENST00000370096.3_Frame_Shift_Del_p.KN65fs|COL11A1_ENST00000353414.4_Frame_Shift_Del_p.KN65fs|COL11A1_ENST00000512756.1_Frame_Shift_Del_p.KN65fs	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	65	TSP N-terminal.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		GCCTTTAGAATTCTTTCTGTTTGT	0.358													37	71	---	---	---	---						-	103548441	TTCT	-	103548438	7	5	509	1	0	1	0	1	0	0	0	0	3690	1493	52	0	5644	0	COL11A1	1	103548438	Frame_Shift_Del	DEL	TTCT	TCGA-WY-A85A-01A-21D-A36O-08	55800365	103548438	145702183	4	38293											
ABL2	27	broad.mit.edu	37	1	179078464	179078464	+	Silent	SNP	C	C	T			TCGA-WY-A85A-01A-21D-A36O-08	TCGA-WY-A85A-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa4097c-34b5-440e-881b-a31f4903228e	76f195e9-0e81-4250-9926-30deb4f65346	g.chr1:179078464C>T	ENST00000502732.1	-	12	2141	c.1938G>A	c.(1936-1938)agG>agA	p.R646R	ABL2_ENST00000344730.3_Silent_p.R631R|ABL2_ENST00000367623.4_Silent_p.R625R|ABL2_ENST00000408940.3_Silent_p.R610R|ABL2_ENST00000512653.1_Silent_p.R631R|ABL2_ENST00000511413.1_Silent_p.R646R|ABL2_ENST00000507173.1_Silent_p.R625R|ABL2_ENST00000504405.1_Silent_p.R610R	NM_001168236.1|NM_001168237.1|NM_001168238.1|NM_007314.3	NP_001161708.1|NP_001161709.1|NP_001161710.1|NP_009298.1	P42684	ABL2_HUMAN	c-abl oncogene 2, non-receptor tyrosine kinase	646					axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction	cytoskeleton|cytosol	ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	65					Adenosine triphosphate(DB00171)|Dasatinib(DB01254)	CCTTCCTATCCCTGGTGAAGC	0.547			T	ETV6	AML								9	90					0	0	1	0	0	T	179078464	C	T	179078464	2	4	509	1	0	0	0	0	0	0	0	1	93	622	22	2		2	ABL2	1	179078464	Silent	SNP	C	TCGA-WY-A85A-01A-21D-A36O-08	75530026	179078464	70172157	5	38294											
IRF6	3664	broad.mit.edu	37	1	209969868	209969868	+	Translation_Start_Site	SNP	C	C	A			TCGA-WY-A85A-01A-21D-A36O-08	TCGA-WY-A85A-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa4097c-34b5-440e-881b-a31f4903228e	76f195e9-0e81-4250-9926-30deb4f65346	g.chr1:209969868C>A	ENST00000542854.1	-	0	203				IRF6_ENST00000367021.3_Missense_Mutation_p.Q68H	NM_001206696.1	NP_001193625.1	O14896	IRF6_HUMAN	interferon regulatory factor 6						cell cycle arrest|interferon-gamma-mediated signaling pathway|mammary gland epithelial cell differentiation|negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|type I interferon-mediated signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			cervix(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	28				OV - Ovarian serous cystadenocarcinoma(81;0.0351)		CCACCCCTTCCTGGTACTTCC	0.522										HNSCC(57;0.16)			3	36					6.4e-05	6.74595e-05	1	1	0	A	209969868	C	A	209969868	1	1	509	1	0	0	0	0	0	0	0	0	7878	680	24	4		4	IRF6	1	209969868	Translation_Start_Site	SNP	C	TCGA-WY-A85A-01A-21D-A36O-08	30891404	209969868	39280753	6	38295											
EML4	27436	broad.mit.edu	37	2	42513476	42513476	+	Missense_Mutation	SNP	G	G	A			TCGA-WY-A85A-01A-21D-A36O-08	TCGA-WY-A85A-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa4097c-34b5-440e-881b-a31f4903228e	76f195e9-0e81-4250-9926-30deb4f65346	g.chr2:42513476G>A	ENST00000318522.5	+	10	1341	c.1079G>A	c.(1078-1080)gGc>gAc	p.G360D	EML4_ENST00000402711.2_Missense_Mutation_p.G302D|EML4_ENST00000401738.3_Missense_Mutation_p.G371D	NM_019063.3	NP_061936	Q9HC35	EMAL4_HUMAN	echinoderm microtubule associated protein like 4	360					microtubule-based process|mitosis	cytoplasm|microtubule	protein binding		EML4/ALK(543)	NS(2)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	12						ATTGGACTTGGCACTTTTGAG	0.428			T	ALK	NSCLC								4	114					0	0	1	0	0	A	42513476	G	A	42513476	3	1	509	1	0	0	0	0	1	0	0	0	5127	1203	42	2	1117	2	EML4	2	42513476	Missense_Mutation	SNP	G	TCGA-WY-A85A-01A-21D-A36O-08		42513476	200685897	7	38296											
ZEB2	9839	broad.mit.edu	37	2	145187587	145187588	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-WY-A85A-01A-21D-A36O-08	TCGA-WY-A85A-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa4097c-34b5-440e-881b-a31f4903228e	76f195e9-0e81-4250-9926-30deb4f65346	g.chr2:145187587_145187588delTT	ENST00000558170.2	-	3	1263_1264	c.79_80delAA	c.(79-81)aacfs	p.N27fs	ZEB2_ENST00000303660.4_Frame_Shift_Del_p.N27fs|ZEB2_ENST00000539609.3_Frame_Shift_Del_p.N27fs|ZEB2_ENST00000409487.3_Frame_Shift_Del_p.N27fs	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	27						cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		ATTGTCATAGTTCACCACTGCA	0.411													20	38	---	---	---	---						-	145187588	TT	-	145187587	7	5	509	1	0	1	0	1	0	0	0	0	17682	1725	60	0	3596	0	ZEB2	2	145187587	Frame_Shift_Del	DEL	TT	TCGA-WY-A85A-01A-21D-A36O-08	102674111	145187587	98011786	8	38297											
TTN	7273	broad.mit.edu	37	2	179458010	179458010	+	Missense_Mutation	SNP	G	G	A			TCGA-WY-A85A-01A-21D-A36O-08	TCGA-WY-A85A-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa4097c-34b5-440e-881b-a31f4903228e	76f195e9-0e81-4250-9926-30deb4f65346	g.chr2:179458010G>A	ENST00000589042.1	-	299	59149	c.58925C>T	c.(58924-58926)cCt>cTt	p.P19642L	TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P10577L|TTN_ENST00000359218.5_Missense_Mutation_p.P10702L|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P10769L|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P17074L|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.P18001L	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	18001	Fibronectin type-III 42.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TAGAAGATCAGGAACCCTAAA	0.403													4	115					0	0	1	0	0	A	179458010	G	A	179458010	3	1	509	1	0	0	0	0	1	0	0	0	16797	1000	35	2	49310	2	TTN	2	179458010	Missense_Mutation	SNP	G	TCGA-WY-A85A-01A-21D-A36O-08	34270423	179458010	63741363	9	38298											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-WY-A85A-01A-21D-A36O-08	TCGA-WY-A85A-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa4097c-34b5-440e-881b-a31f4903228e	76f195e9-0e81-4250-9926-30deb4f65346	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	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								20	39					0	0	1	0	0	T	209113112	C	T	209113112	3	4	509	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-WY-A85A-01A-21D-A36O-08	29655102	209113112	34086261	10	38299											
UGT1A3	54659	broad.mit.edu	37	2	234638622	234638622	+	Missense_Mutation	SNP	A	A	G			TCGA-WY-A85A-01A-21D-A36O-08	TCGA-WY-A85A-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa4097c-34b5-440e-881b-a31f4903228e	76f195e9-0e81-4250-9926-30deb4f65346	g.chr2:234638622A>G	ENST00000482026.1	+	1	869	c.850A>G	c.(850-852)Agg>Ggg	p.R284G	UGT1A6_ENST00000480628.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A1_ENST00000609637.1_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A1_ENST00000609767.1_Missense_Mutation_p.R284G|UGT1A5_ENST00000373414.3_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A1_ENST00000373450.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A1_ENST00000608381.1_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A4_ENST00000373409.3_Intron																breast(2)|endometrium(7)|kidney(18)|large_intestine(6)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	46		Breast(86;0.000765)|all_lung(227;0.00266)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0456)|Lung SC(224;0.128)		Epithelial(121;2.4e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000476)|Lung(119;0.00243)|LUSC - Lung squamous cell carcinoma(224;0.00599)		CTGTGCCAACAGGAAGCCACT	0.438													10	138					0	0	1	0	0	G	234638622	A	G	234638622	3	3	509	1	0	0	0	0	1	0	0	0	17006	179	7	3	852	3	UGT1A3	2	234638622	Missense_Mutation	SNP	A	TCGA-WY-A85A-01A-21D-A36O-08	25525510	234638622	8560751	11	38300											
NR2C2	7182	broad.mit.edu	37	3	15062400	15062400	+	Missense_Mutation	SNP	C	C	T			TCGA-WY-A85A-01A-21D-A36O-08	TCGA-WY-A85A-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa4097c-34b5-440e-881b-a31f4903228e	76f195e9-0e81-4250-9926-30deb4f65346	g.chr3:15062400C>T	ENST00000425241.1	+	5	879	c.517C>T	c.(517-519)Cgg>Tgg	p.R173W	NR2C2_ENST00000406272.2_Missense_Mutation_p.R173W|NR2C2_ENST00000323373.6_Missense_Mutation_p.R192W|NR2C2_ENST00000393102.3_Missense_Mutation_p.R173W			P49116	NR2C2_HUMAN	nuclear receptor subfamily 2, group C, member 2	173					cell differentiation|nervous system development|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|spermatogenesis	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding			breast(1)|endometrium(2)|large_intestine(5)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						TCAGTTTTGCCGGCTGAAAAA	0.413													3	50					0	0	1	0	0	T	15062400	C	T	15062400	3	4	509	1	0	0	0	0	1	0	0	0	10671	643	23	1	592	1	NR2C2	3	15062400	Missense_Mutation	SNP	C	TCGA-WY-A85A-01A-21D-A36O-08		15062400	182960030	12	38301											
NKD2	85409	broad.mit.edu	37	5	1038447	1038449	+	In_Frame_Del	DEL	CAC	CAC	-	rs3840989		TCGA-WY-A85A-01A-21D-A36O-08	TCGA-WY-A85A-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa4097c-34b5-440e-881b-a31f4903228e	76f195e9-0e81-4250-9926-30deb4f65346	g.chr5:1038447_1038449delCAC	ENST00000296849.5	+	10	1544_1546	c.1315_1317delCAC	c.(1315-1317)cacdel	p.H447del	NKD2_ENST00000274150.4_3'UTR|NKD2_ENST00000382730.2_In_Frame_Del_p.P86del	NM_033120.3	NP_149111.1	Q969F2	NKD2_HUMAN	naked cuticle homolog 2 (Drosophila)	447	His-rich.				exocytosis|Wnt receptor signaling pathway	cytoplasmic membrane-bounded vesicle|plasma membrane	calcium ion binding|ubiquitin protein ligase binding			breast(1)|central_nervous_system(3)|large_intestine(1)|lung(8)|pancreas(1)	14	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;3.28e-09)		Epithelial(17;0.00093)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00417)|Lung(60;0.165)			ccaccacgagcaccaccaccacc	0.69													2	4	---	---	---	---						-	1038449	CAC	-	1038447	7	5	509	1	0	1	0	1	0	0	0	0	10489	710	25	0	1353	0	NKD2	5	1038447	In_Frame_Del	DEL	CAC	TCGA-WY-A85A-01A-21D-A36O-08		1038447	179876813	13	38302											
PCDHGB7	56099	broad.mit.edu	37	5	140799049	140799049	+	Silent	SNP	G	G	A			TCGA-WY-A85A-01A-21D-A36O-08	TCGA-WY-A85A-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa4097c-34b5-440e-881b-a31f4903228e	76f195e9-0e81-4250-9926-30deb4f65346	g.chr5:140799049G>A	ENST00000398594.2	+	1	1623	c.1623G>A	c.(1621-1623)gcG>gcA	p.A541A	PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA10_ENST00000398610.2_Intron	NM_018927.3	NP_061750.1														central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(13)|lung(15)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(3)	56			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTCGCCCGCGCTCAGCGCCA	0.721													7	49					0	0	1	0	0	A	140799049	G	A	140799049	2	1	509	1	0	0	0	0	0	0	0	1	11615	1074	38	1		1	PCDHGB7	5	140799049	Silent	SNP	G	TCGA-WY-A85A-01A-21D-A36O-08	139760602	140799049	40116211	14	38303											
CHAT	1103	broad.mit.edu	37	10	50863161	50863161	+	Missense_Mutation	SNP	C	C	T			TCGA-WY-A85A-01A-21D-A36O-08	TCGA-WY-A85A-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa4097c-34b5-440e-881b-a31f4903228e	76f195e9-0e81-4250-9926-30deb4f65346	g.chr10:50863161C>T	ENST00000395562.2	+	13	1878	c.1409C>T	c.(1408-1410)cCc>cTc	p.P470L	CHAT_ENST00000337653.2_Missense_Mutation_p.P552L|CHAT_ENST00000351556.3_Missense_Mutation_p.P434L|CHAT_ENST00000455728.2_Missense_Mutation_p.P434L|CHAT_ENST00000395559.2_Missense_Mutation_p.P434L|CHAT_ENST00000339797.1_Missense_Mutation_p.P434L	NM_001142933.1|NM_001142934.1	NP_001136405|NP_001136406.1	P28329	CLAT_HUMAN	choline O-acetyltransferase	552					neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity			central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)	AGACTGGTGCCCACCTACGAG	0.532													5	65					0	0	1	0	0	T	50863161	C	T	50863161	3	4	509	1	0	0	0	0	1	0	0	0	3335	623	22	2	1745	2	CHAT	10	50863161	Missense_Mutation	SNP	C	TCGA-WY-A85A-01A-21D-A36O-08		50863161	84671586	15	38304											
OR52L1	338751	broad.mit.edu	37	11	6007178	6007178	+	Missense_Mutation	SNP	T	T	C			TCGA-WY-A85A-01A-21D-A36O-08	TCGA-WY-A85A-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa4097c-34b5-440e-881b-a31f4903228e	76f195e9-0e81-4250-9926-30deb4f65346	g.chr11:6007178T>C	ENST00000332249.4	-	1	1037	c.983A>G	c.(982-984)aAg>aGg	p.K328R		NM_001005173.2	NP_001005173.2	Q8NGH7	O52L1_HUMAN	olfactory receptor, family 52, subfamily L, member 1	328					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|pancreas(1)|skin(3)|soft_tissue(1)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.98e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGATCAATCCTTTTGTGTAAA	0.493													8	11					0	0	1	0	0	C	6007178	T	C	6007178	3	2	509	1	0	0	0	0	1	0	0	0	11173	1609	56	3	10	3	OR52L1	11	6007178	Missense_Mutation	SNP	T	TCGA-WY-A85A-01A-21D-A36O-08		6007178	128999338	16	38305											
TRPC6	7225	broad.mit.edu	37	11	101375499	101375499	+	Silent	SNP	C	C	T			TCGA-WY-A85A-01A-21D-A36O-08	TCGA-WY-A85A-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa4097c-34b5-440e-881b-a31f4903228e	76f195e9-0e81-4250-9926-30deb4f65346	g.chr11:101375499C>T	ENST00000344327.3	-	2	625	c.201G>A	c.(199-201)cgG>cgA	p.R67R	TRPC6_ENST00000526713.1_5'UTR|TRPC6_ENST00000532133.1_Silent_p.R67R|TRPC6_ENST00000348423.4_Silent_p.R67R|TRPC6_ENST00000360497.4_Silent_p.R67R	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel, subfamily C, member 6	67					axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		CTGTCTGCCGCCGGTGAGCCA	0.463													27	36					0	0	1	0	0	T	101375499	C	T	101375499	2	4	509	1	0	0	0	0	0	0	0	1	16644	726	26	2		2	TRPC6	11	101375499	Silent	SNP	C	TCGA-WY-A85A-01A-21D-A36O-08	95368321	101375499	33631017	17	38306											
TP53	7157	broad.mit.edu	37	17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	rs121913343		TCGA-WY-A85A-01A-21D-A36O-08	TCGA-WY-A85A-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa4097c-34b5-440e-881b-a31f4903228e	76f195e9-0e81-4250-9926-30deb4f65346	g.chr17:7577121G>A	ENST00000420246.2	-	8	949	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000269305.4_Missense_Mutation_p.R273C|TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	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).		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.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			11	4					0	0	1	0	0	A	7577121	G	A	7577121	3	1	509	1	0	0	0	0	1	0	0	0	16442	1087	38	1	469	1	TP53	17	7577121	Missense_Mutation	SNP	G	TCGA-WY-A85A-01A-21D-A36O-08		7577121	73618089	18	38307											
ATAD5	79915	broad.mit.edu	37	17	29192788	29192788	+	Missense_Mutation	SNP	G	G	A			TCGA-WY-A85A-01A-21D-A36O-08	TCGA-WY-A85A-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa4097c-34b5-440e-881b-a31f4903228e	76f195e9-0e81-4250-9926-30deb4f65346	g.chr17:29192788G>A	ENST00000321990.4	+	11	3581	c.3203G>A	c.(3202-3204)gGa>gAa	p.G1068E		NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	1068					response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				GAACTTATAGGAAATGAGTTA	0.299													21	39					0	0	1	0	0	A	29192788	G	A	29192788	3	1	509	1	0	0	0	0	1	0	0	0	1075	1174	41	2	3245	2	ATAD5	17	29192788	Missense_Mutation	SNP	G	TCGA-WY-A85A-01A-21D-A36O-08	21615667	29192788	52002422	19	38308											
SMARCA4	6597	broad.mit.edu	37	19	11132515	11132515	+	Missense_Mutation	SNP	G	G	T			TCGA-WY-A85A-01A-21D-A36O-08	TCGA-WY-A85A-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa4097c-34b5-440e-881b-a31f4903228e	76f195e9-0e81-4250-9926-30deb4f65346	g.chr19:11132515G>T	ENST00000358026.2	+	19	3015	c.2731G>T	c.(2731-2733)Ggc>Tgc	p.G911C	SMARCA4_ENST00000344626.4_Missense_Mutation_p.G911C|SMARCA4_ENST00000444061.3_Missense_Mutation_p.G911C|SMARCA4_ENST00000590574.1_Missense_Mutation_p.G911C|SMARCA4_ENST00000413806.3_Missense_Mutation_p.G911C|SMARCA4_ENST00000450717.3_Missense_Mutation_p.G911C|SMARCA4_ENST00000429416.3_Missense_Mutation_p.G911C|SMARCA4_ENST00000589677.1_Missense_Mutation_p.G911C|SMARCA4_ENST00000541122.2_Missense_Mutation_p.G911C	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	911	Helicase ATP-binding.				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				GCTGCTGACGGGCACACCGCT	0.592			"F, N, Mis"		NSCLC								10	16					2.17888e-05	2.36045e-05	1	1	0	T	11132515	G	T	11132515	3	4	509	1	0	0	0	0	1	0	0	0	14824	1232	43	5	2801	5	SMARCA4	19	11132515	Missense_Mutation	SNP	G	TCGA-WY-A85A-01A-21D-A36O-08		11132515	47996468	20	38309											
RALGAPA2	57186	broad.mit.edu	37	20	20484148	20484148	+	Silent	SNP	C	C	T			TCGA-WY-A85A-01A-21D-A36O-08	TCGA-WY-A85A-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa4097c-34b5-440e-881b-a31f4903228e	76f195e9-0e81-4250-9926-30deb4f65346	g.chr20:20484148C>T	ENST00000202677.7	-	35	5062	c.5055G>A	c.(5053-5055)gtG>gtA	p.V1685V		NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN	Ral GTPase activating protein, alpha subunit 2 (catalytic)		Rap-GAP.				activation of Ral GTPase activity	cytosol|nucleus	protein heterodimerization activity|Ral GTPase activator activity			endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						TGGAGAGATCCACCTGACAAA	0.463													7	14					0	0	1	0	0	T	20484148	C	T	20484148	2	4	509	1	0	0	0	0	0	0	0	1	13066	581	21	2		2	RALGAPA2	20	20484148	Silent	SNP	C	TCGA-WY-A85A-01A-21D-A36O-08		20484148	42541372	21	38310											
KCNJ15	3772	broad.mit.edu	37	21	39672106	39672106	+	Missense_Mutation	SNP	G	G	A			TCGA-WY-A85A-01A-21D-A36O-08	TCGA-WY-A85A-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa4097c-34b5-440e-881b-a31f4903228e	76f195e9-0e81-4250-9926-30deb4f65346	g.chr21:39672106G>A	ENST00000328656.4	+	4	1226	c.923G>A	c.(922-924)gGt>gAt	p.G308D	KCNJ15_ENST00000398934.1_Missense_Mutation_p.G308D|KCNJ15_ENST00000398930.1_Missense_Mutation_p.G308D|KCNJ15_ENST00000398932.1_Missense_Mutation_p.G308D|KCNJ15_ENST00000398938.2_Missense_Mutation_p.G308D	NM_001276437.1|NM_001276438.1|NM_001276439.1|NM_002243.3	NP_001263366.1|NP_001263367.1|NP_001263368.1|NP_002234.2	Q99712	IRK15_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 15						synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	24						ATCTACTGGGGTTTTGAGTTT	0.458													27	36					0	0	1	0	0	A	39672106	G	A	39672106	3	1	509	1	0	0	0	0	1	0	0	0	8093	1261	44	2	925	2	KCNJ15	21	39672106	Missense_Mutation	SNP	G	TCGA-WY-A85A-01A-21D-A36O-08		39672106	8457789	22	38311											
ATRX	546	broad.mit.edu	37	X	76855051	76855051	+	Splice_Site	SNP	T	T	G			TCGA-WY-A85A-01A-21D-A36O-08	TCGA-WY-A85A-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa4097c-34b5-440e-881b-a31f4903228e	76f195e9-0e81-4250-9926-30deb4f65346	g.chrX:76855051T>G	ENST00000373344.5	-	25	6001		c.e25-2		ATRX_ENST00000395603.3_Splice_Site|ATRX_ENST00000480283.1_Splice_Site	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked						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)	TTCTTCTTTCTaaaaacaaac	0.338			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						90	26					0	0	1	0	0	G	76855051	T	G	76855051	5	3	509	1	0	0	0	0	0	0	1	0	1206	1536	53	5	1737	5	ATRX	23	76855051	Splice_Site	SNP	T	TCGA-WY-A85A-01A-21D-A36O-08		76855051	78415509	23	38312											
HNRNPCL1	343069	broad.mit.edu	37	1	12907676	12907676	+	Missense_Mutation	SNP	C	C	T			TCGA-WY-A85B-01A-11D-A36O-08	TCGA-WY-A85B-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee529a1-6577-4e99-9b07-8399e6b02b53	38a6ec3f-e917-49b1-8d02-13793403b672	g.chr1:12907676C>T	ENST00000317869.6	-	2	692	c.467G>A	c.(466-468)gGc>gAc	p.G156D		NM_001013631.1|NM_001136561.2|NM_001146181.1	NP_001013653.1|NP_001130033.2|NP_001139653.1			heterogeneous nuclear ribonucleoprotein C-like 1											NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2)	29						GCCACTTTTGCCCCTTCGTGA	0.507													18	342					0	0	1	0	0	T	12907676	C	T	12907676	3	4	510	1	0	0	0	0	1	0	0	0	7304	739	26	2	416	2	HNRNPCL1	1	12907676	Missense_Mutation	SNP	C	TCGA-WY-A85B-01A-11D-A36O-08		12907676	236342945	1	38313											
KCNK2	3776	broad.mit.edu	37	1	215368303	215368303	+	Silent	SNP	C	C	T	rs149941939	by1000genomes	TCGA-WY-A85B-01A-11D-A36O-08	TCGA-WY-A85B-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee529a1-6577-4e99-9b07-8399e6b02b53	38a6ec3f-e917-49b1-8d02-13793403b672	g.chr1:215368303C>T	ENST00000444842.2	+	6	981	c.831C>T	c.(829-831)tcC>tcT	p.S277S	KCNK2_ENST00000391894.2_Silent_p.S262S|KCNK2_ENST00000391895.2_Silent_p.S273S	NM_001017425.2|NM_014217.3	NP_001017425.2|NP_055032.1	O95069	KCNK2_HUMAN	potassium channel, subfamily K, member 2	277							outward rectifier potassium channel activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068)	Dofetilide(DB00204)	CAGGTGGATCCGATATTGAAT	0.373													19	139					0	0	1	0	0	T	215368303	C	T	215368303	2	4	510	1	0	0	0	0	0	0	0	1	8110	639	23	1		1	KCNK2	1	215368303	Silent	SNP	C	TCGA-WY-A85B-01A-11D-A36O-08	202460627	215368303	33882318	2	38314											
RANBP2	5903	broad.mit.edu	37	2	109384409	109384409	+	Missense_Mutation	SNP	T	T	A			TCGA-WY-A85B-01A-11D-A36O-08	TCGA-WY-A85B-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee529a1-6577-4e99-9b07-8399e6b02b53	38a6ec3f-e917-49b1-8d02-13793403b672	g.chr2:109384409T>A	ENST00000283195.6	+	20	7540	c.7414T>A	c.(7414-7416)Tta>Ata	p.L2472I		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	2472					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						TGTAGCTGTATTAGAAGAAAC	0.428													6	456					0	0	1	0	0	A	109384409	T	A	109384409	3	1	510	1	0	0	0	0	1	0	0	0	13080	1490	52	4	7492	4	RANBP2	2	109384409	Missense_Mutation	SNP	T	TCGA-WY-A85B-01A-11D-A36O-08		109384409	133814964	3	38315											
IDH1	3417	broad.mit.edu	37	2	209113113	209113113	+	Missense_Mutation	SNP	G	G	C	rs121913499		TCGA-WY-A85B-01A-11D-A36O-08	TCGA-WY-A85B-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee529a1-6577-4e99-9b07-8399e6b02b53	38a6ec3f-e917-49b1-8d02-13793403b672	g.chr2:209113113G>C	ENST00000415913.1	-	4	775	c.394C>G	c.(394-396)Cgt>Ggt	p.R132G	IDH1_ENST00000345146.2_Missense_Mutation_p.R132G|IDH1_ENST00000446179.1_Missense_Mutation_p.R132G	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		TAAGCATGACGACCTATGATG	0.398			Mis		gliobastoma								32	54					0	0	1	0	0	C	209113113	G	C	209113113	3	2	510	1	0	0	0	0	1	0	0	0	7538	1058	37	5	878	5	IDH1	2	209113113	Missense_Mutation	SNP	G	TCGA-WY-A85B-01A-11D-A36O-08	99728704	209113113	34086260	4	38316											
BOC	91653	broad.mit.edu	37	3	112969621	112969621	+	Missense_Mutation	SNP	G	G	T			TCGA-WY-A85B-01A-11D-A36O-08	TCGA-WY-A85B-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee529a1-6577-4e99-9b07-8399e6b02b53	38a6ec3f-e917-49b1-8d02-13793403b672	g.chr3:112969621G>T	ENST00000495514.1	+	4	1021	c.317G>T	c.(316-318)tGt>tTt	p.C106F	BOC_ENST00000355385.3_Missense_Mutation_p.C106F|BOC_ENST00000273395.4_Missense_Mutation_p.C106F|BOC_ENST00000484034.1_Missense_Mutation_p.C106F|BOC_ENST00000485230.1_Missense_Mutation_p.C106F			Q9BWV1	BOC_HUMAN	BOC cell adhesion associated, oncogene regulated	106	Ig-like C2-type 1.				cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation	integral to membrane|plasma membrane	protein binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	68			Epithelial(53;0.227)			CGGTACCAGTGTGTGGCCCGG	0.622													6	31					0.00116845	0.00128152	1	1	0	T	112969621	G	T	112969621	3	4	510	1	0	0	0	0	1	0	0	0	1480	1377	48	5	323	5	BOC	3	112969621	Missense_Mutation	SNP	G	TCGA-WY-A85B-01A-11D-A36O-08		112969621	85052809	5	38317											
CD86	942	broad.mit.edu	37	3	121838286	121838287	+	Splice_Site	INS	-	-	A			TCGA-WY-A85B-01A-11D-A36O-08	TCGA-WY-A85B-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee529a1-6577-4e99-9b07-8399e6b02b53	38a6ec3f-e917-49b1-8d02-13793403b672	g.chr3:121838286_121838287insA	ENST00000330540.2	+	7	1011_1012	c.895_896insA	c.(895-897)gaa>gAaa	p.E299fs	CD86_ENST00000264468.5_Splice_Site_p.E86fs|CD86_ENST00000393627.2_Splice_Site_p.E293fs|CD86_ENST00000469710.1_Splice_Site_p.E217fs|CD86_ENST00000493101.1_Splice_Site_p.E187fs	NM_175862.4	NP_787058	P42081	CD86_HUMAN	CD86 molecule	299					interspecies interaction between organisms|positive regulation of cell proliferation|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of lymphotoxin A biosynthetic process|positive regulation of T-helper 2 cell differentiation|positive regulation of transcription, DNA-dependent|T cell costimulation		coreceptor activity|protein binding			breast(2)|endometrium(1)|kidney(1)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	23				GBM - Glioblastoma multiforme(114;0.156)	Abatacept(DB01281)	TTTCTCCAGAGAAAAAATCCAT	0.337													34	56	---	---	---	---						A	121838287	-	A	121838286	8	5	510	1	0	1	1	0	0	0	1	0	3065	956	33	0	921	0	CD86	3	121838286	Splice_Site	INS	-	TCGA-WY-A85B-01A-11D-A36O-08	8868665	121838286	76184144	6	38318											
MMRN1	22915	broad.mit.edu	37	4	90816388	90816388	+	Missense_Mutation	SNP	G	G	T			TCGA-WY-A85B-01A-11D-A36O-08	TCGA-WY-A85B-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee529a1-6577-4e99-9b07-8399e6b02b53	38a6ec3f-e917-49b1-8d02-13793403b672	g.chr4:90816388G>T	ENST00000394980.1	+	2	585	c.266G>T	c.(265-267)aGt>aTt	p.S89I	MMRN1_ENST00000394981.1_Intron|MMRN1_ENST00000264790.2_Missense_Mutation_p.S89I			Q13201	MMRN1_HUMAN	multimerin 1	89					cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		TCAGAAACAAGTGCACCTGCT	0.493													4	55					0.00909568	0.00966416	1	1	0	T	90816388	G	T	90816388	3	4	510	1	0	0	0	0	1	0	0	0	9719	1029	36	4	268	4	MMRN1	4	90816388	Missense_Mutation	SNP	G	TCGA-WY-A85B-01A-11D-A36O-08		90816388	100337888	7	38319											
CDO1	1036	broad.mit.edu	37	5	115142186	115142186	+	Missense_Mutation	SNP	T	T	C			TCGA-WY-A85B-01A-11D-A36O-08	TCGA-WY-A85B-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee529a1-6577-4e99-9b07-8399e6b02b53	38a6ec3f-e917-49b1-8d02-13793403b672	g.chr5:115142186T>C	ENST00000250535.4	-	4	989	c.433A>G	c.(433-435)Atc>Gtc	p.I145V	CDO1_ENST00000502631.1_5'UTR	NM_001801.2	NP_001792.2	Q16878	CDO1_HUMAN	cysteine dioxygenase type 1	145					inflammatory response|sulfur amino acid biosynthetic process|taurine biosynthetic process	cytosol	cysteine dioxygenase activity			breast(1)|endometrium(1)|large_intestine(3)|lung(1)|skin(5)	11		all_cancers(142;0.0046)|all_epithelial(76;0.000161)|Prostate(80;0.0132)|Ovarian(225;0.0776)		OV - Ovarian serous cystadenocarcinoma(64;7.8e-08)|Epithelial(69;7.32e-07)|all cancers(49;3.24e-05)	L-Cysteine(DB00151)|NADH(DB00157)	GTATGGCTGATGTTCTCTACT	0.413													14	32					0	0	1	0	0	C	115142186	T	C	115142186	3	2	510	1	0	0	0	0	1	0	0	0	3191	1464	51	3	177	3	CDO1	5	115142186	Missense_Mutation	SNP	T	TCGA-WY-A85B-01A-11D-A36O-08		115142186	65773074	8	38320											
C8orf34	116328	broad.mit.edu	37	8	69434080	69434080	+	Missense_Mutation	SNP	G	G	A			TCGA-WY-A85B-01A-11D-A36O-08	TCGA-WY-A85B-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee529a1-6577-4e99-9b07-8399e6b02b53	38a6ec3f-e917-49b1-8d02-13793403b672	g.chr8:69434080G>A	ENST00000337103.4	+	5	2071	c.479G>A	c.(478-480)gGa>gAa	p.G160E	C8orf34_ENST00000348340.2_Missense_Mutation_p.G185E|C8orf34_ENST00000539993.1_Missense_Mutation_p.G185E|C8orf34_ENST00000349492.3_3'UTR|C8orf34_ENST00000518698.1_Missense_Mutation_p.G271E			Q49A92	CH034_HUMAN	chromosome 8 open reading frame 34	185					signal transduction		cAMP-dependent protein kinase regulator activity			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	36			Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)			CGTGTGATTGGAGAATGGATT	0.403													15	31					0	0	1	0	0	A	69434080	G	A	69434080	3	1	510	1	0	0	0	0	1	0	0	0	2439	1174	41	2	497	2	C8orf34	8	69434080	Missense_Mutation	SNP	G	TCGA-WY-A85B-01A-11D-A36O-08		69434080	76929942	9	38321											
OR51T1	401665	broad.mit.edu	37	11	4903765	4903765	+	Silent	SNP	C	C	T	rs138268565		TCGA-WY-A85B-01A-11D-A36O-08	TCGA-WY-A85B-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee529a1-6577-4e99-9b07-8399e6b02b53	38a6ec3f-e917-49b1-8d02-13793403b672	g.chr11:4903765C>T	ENST00000380378.1	+	1	717	c.717C>T	c.(715-717)gaC>gaT	p.D239D	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron|OR51T1_ENST00000322049.1_Silent_p.D212D	NM_001004759.1	NP_001004759.1	Q8NGJ9	O51T1_HUMAN	olfactory receptor, family 51, subfamily T, member 1	212					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		ATGGCACTGACGTATTGTTTA	0.443													8	73					0	0	1	0	0	T	4903765	C	T	4903765	2	4	510	1	0	0	0	0	0	0	0	1	11154	535	19	1		1	OR51T1	11	4903765	Silent	SNP	C	TCGA-WY-A85B-01A-11D-A36O-08		4903765	130102751	10	38322											
KCNA4	3739	broad.mit.edu	37	11	30033344	30033344	+	Missense_Mutation	SNP	C	C	G			TCGA-WY-A85B-01A-11D-A36O-08	TCGA-WY-A85B-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee529a1-6577-4e99-9b07-8399e6b02b53	38a6ec3f-e917-49b1-8d02-13793403b672	g.chr11:30033344C>G	ENST00000328224.6	-	2	2115	c.882G>C	c.(880-882)tgG>tgC	p.W294C		NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	294						voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						CAAAGAGGAGCCAAATCTGCT	0.507													4	51					0	0	1	0	0	G	30033344	C	G	30033344	3	3	510	1	0	0	0	0	1	0	0	0	8049	740	26	5	1083	5	KCNA4	11	30033344	Missense_Mutation	SNP	C	TCGA-WY-A85B-01A-11D-A36O-08	25129579	30033344	104973172	11	38323											
ACVRL1	94	broad.mit.edu	37	12	52312879	52312879	+	Missense_Mutation	SNP	A	A	G			TCGA-WY-A85B-01A-11D-A36O-08	TCGA-WY-A85B-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee529a1-6577-4e99-9b07-8399e6b02b53	38a6ec3f-e917-49b1-8d02-13793403b672	g.chr12:52312879A>G	ENST00000550683.1	+	8	1500	c.1399A>G	c.(1399-1401)Aac>Gac	p.N467D	ACVRL1_ENST00000388922.4_Missense_Mutation_p.N453D|ACVRL1_ENST00000419526.2_Missense_Mutation_p.N279D	NM_001077401.1	NP_001070869.1	P37023	ACVL1_HUMAN	activin A receptor type II-like 1	453	Protein kinase.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|blood vessel maturation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of endothelial cell migration|negative regulation of focal adhesion assembly|positive regulation of BMP signaling pathway|positive regulation of transcription, DNA-dependent|regulation of blood pressure|regulation of blood vessel endothelial cell migration|regulation of DNA replication|regulation of endothelial cell proliferation|transforming growth factor beta receptor signaling pathway|wound healing, spreading of epidermal cells	cell surface|integral to plasma membrane	activin binding|activin receptor activity, type I|ATP binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	20				BRCA - Breast invasive adenocarcinoma(357;0.0991)	Adenosine triphosphate(DB00171)	CACCATCCCTAACCGGCTGGC	0.587													3	41					0	0	1	0	0	G	52312879	A	G	52312879	3	3	510	1	0	0	0	0	1	0	0	0	224	362	13	3	1387	3	ACVRL1	12	52312879	Missense_Mutation	SNP	A	TCGA-WY-A85B-01A-11D-A36O-08		52312879	81539016	12	38324											
RYR3	6263	broad.mit.edu	37	15	33955132	33955132	+	Missense_Mutation	SNP	G	G	A			TCGA-WY-A85B-01A-11D-A36O-08	TCGA-WY-A85B-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee529a1-6577-4e99-9b07-8399e6b02b53	38a6ec3f-e917-49b1-8d02-13793403b672	g.chr15:33955132G>A	ENST00000389232.4	+	35	5471	c.5401G>A	c.(5401-5403)Gaa>Aaa	p.E1801K	RYR3_ENST00000415757.3_Missense_Mutation_p.E1801K	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1801	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TCGATTACCCGAATCCGTCAA	0.512													4	126					0	0	1	0	0	A	33955132	G	A	33955132	3	1	510	1	0	0	0	0	1	0	0	0	13822	1059	37	1	5539	1	RYR3	15	33955132	Missense_Mutation	SNP	G	TCGA-WY-A85B-01A-11D-A36O-08		33955132	68576260	13	38325											
MPG	4350	broad.mit.edu	37	16	133194	133194	+	Silent	SNP	G	G	A	rs4986985	byFrequency	TCGA-WY-A85B-01A-11D-A36O-08	TCGA-WY-A85B-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee529a1-6577-4e99-9b07-8399e6b02b53	38a6ec3f-e917-49b1-8d02-13793403b672	g.chr16:133194G>A	ENST00000219431.4	+	4	690	c.459G>A	c.(457-459)ccG>ccA	p.P153P	MPG_ENST00000397817.1_Silent_p.P136P	NM_002434.3	NP_002425.2	P29372	3MG_HUMAN	N-methylpurine-DNA glycosylase	153					depurination|DNA dealkylation involved in DNA repair	nucleoplasm	alkylbase DNA N-glycosylase activity|damaged DNA binding|identical protein binding			endometrium(4)|kidney(1)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9		all_cancers(16;9.01e-08)|all_epithelial(16;7.64e-07)|Hepatocellular(780;0.000325)|Lung NSC(18;0.0104)|all_lung(18;0.0239)				TCATGAAGCCGGGGACCCTGT	0.632								Base excision repair (BER), DNA glycosylases					17	190					0	0	1	0	0	A	133194	G	A	133194	2	1	510	1	0	0	0	0	0	0	0	1	9773	1103	39	1		1	MPG	16	133194	Silent	SNP	G	TCGA-WY-A85B-01A-11D-A36O-08		133194	90221559	14	38326											
TP53	7157	broad.mit.edu	37	17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	rs121913343		TCGA-WY-A85B-01A-11D-A36O-08	TCGA-WY-A85B-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee529a1-6577-4e99-9b07-8399e6b02b53	38a6ec3f-e917-49b1-8d02-13793403b672	g.chr17:7577121G>A	ENST00000420246.2	-	8	949	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000269305.4_Missense_Mutation_p.R273C|TP53_ENST00000445888.2_Missense_Mutation_p.R273C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	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).		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.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			20	3					0	0	1	0	0	A	7577121	G	A	7577121	3	1	510	1	0	0	0	0	1	0	0	0	16442	1087	38	1	469	1	TP53	17	7577121	Missense_Mutation	SNP	G	TCGA-WY-A85B-01A-11D-A36O-08		7577121	73618089	15	38327											
RAI1	10743	broad.mit.edu	37	17	17698750	17698750	+	Missense_Mutation	SNP	G	G	A			TCGA-WY-A85B-01A-11D-A36O-08	TCGA-WY-A85B-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee529a1-6577-4e99-9b07-8399e6b02b53	38a6ec3f-e917-49b1-8d02-13793403b672	g.chr17:17698750G>A	ENST00000353383.1	+	3	2957	c.2488G>A	c.(2488-2490)Gag>Aag	p.E830K	RAI1_ENST00000261641.6_Missense_Mutation_p.E830K	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	830						cytoplasm|nucleus	zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		GCAGTGCCCCGAGGTGGCCAA	0.692													7	11					0	0	1	0	0	A	17698750	G	A	17698750	3	1	510	1	0	0	0	0	1	0	0	0	13059	1059	37	1	2490	1	RAI1	17	17698750	Missense_Mutation	SNP	G	TCGA-WY-A85B-01A-11D-A36O-08	10121629	17698750	63496460	16	38328											
TBCD	6904	broad.mit.edu	37	17	80885834	80885834	+	Missense_Mutation	SNP	G	G	T			TCGA-WY-A85B-01A-11D-A36O-08	TCGA-WY-A85B-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee529a1-6577-4e99-9b07-8399e6b02b53	38a6ec3f-e917-49b1-8d02-13793403b672	g.chr17:80885834G>T	ENST00000355528.4	+	30	2793	c.2663G>T	c.(2662-2664)cGg>cTg	p.R888L	TBCD_ENST00000539345.2_Missense_Mutation_p.R888L	NM_005993.4	NP_005984.3	Q9BTW9	TBCD_HUMAN	tubulin folding cofactor D	888					'de novo' posttranslational protein folding|adherens junction assembly|negative regulation of cell-substrate adhesion|negative regulation of microtubule polymerization|post-chaperonin tubulin folding pathway|tight junction assembly	adherens junction|cytoplasm|lateral plasma membrane|microtubule|tight junction	beta-tubulin binding|chaperone binding|GTPase activator activity					Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)			CTGCTGGCTCGGAGCCAGCCT	0.637													3	55					1	1	1	1	0	T	80885834	G	T	80885834	3	4	510	1	0	0	0	0	1	0	0	0	15693	1116	39	5	2781	5	TBCD	17	80885834	Missense_Mutation	SNP	G	TCGA-WY-A85B-01A-11D-A36O-08	63187084	80885834	309376	17	38329											
PPM1F	9647	broad.mit.edu	37	22	22285639	22285639	+	Missense_Mutation	SNP	C	C	T			TCGA-WY-A85B-01A-11D-A36O-08	TCGA-WY-A85B-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee529a1-6577-4e99-9b07-8399e6b02b53	38a6ec3f-e917-49b1-8d02-13793403b672	g.chr22:22285639C>T	ENST00000407142.1	-	4	1328	c.268G>A	c.(268-270)Gtg>Atg	p.V90M	PPM1F_ENST00000263212.5_Missense_Mutation_p.V258M|PPM1F_ENST00000538191.1_Missense_Mutation_p.V154M|PPM1F_ENST00000397495.4_Missense_Mutation_p.V258M			P49593	PPM1F_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1F	258					apoptosis|protein dephosphorylation	protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	12	Colorectal(54;0.105)			READ - Rectum adenocarcinoma(21;0.155)		AGCGCACACACACCTGTGGTG	0.622													26	25					0	0	1	0	0	T	22285639	C	T	22285639	3	4	510	1	0	0	0	0	1	0	0	0	12388	478	17	2	604	2	PPM1F	22	22285639	Missense_Mutation	SNP	C	TCGA-WY-A85B-01A-11D-A36O-08		22285639	29018927	18	38330											
RFPL2	10739	broad.mit.edu	37	22	32588988	32588988	+	Missense_Mutation	SNP	G	G	A			TCGA-WY-A85B-01A-11D-A36O-08	TCGA-WY-A85B-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee529a1-6577-4e99-9b07-8399e6b02b53	38a6ec3f-e917-49b1-8d02-13793403b672	g.chr22:32588988G>A	ENST00000400236.3	-	4	1392	c.187C>T	c.(187-189)Cgc>Tgc	p.R63C	RFPL2_ENST00000489846.1_5'UTR|RFPL2_ENST00000248980.4_Missense_Mutation_p.R92C|RFPL2_ENST00000400237.1_Missense_Mutation_p.R153C|RFPL2_ENST00000248983.4_Missense_Mutation_p.R63C	NM_001098527.2	NP_001091997.2	O75678	RFPL2_HUMAN	ret finger protein-like 2	153							zinc ion binding			endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	21						TGCCGATTGCGCCTGATTTTG	0.522													5	102					0	0	1	0	0	A	32588988	G	A	32588988	3	1	510	1	0	0	0	0	1	0	0	0	13306	1087	38	1	687	1	RFPL2	22	32588988	Missense_Mutation	SNP	G	TCGA-WY-A85B-01A-11D-A36O-08	10303349	32588988	18715578	19	38331											
ATRX	546	broad.mit.edu	37	X	76845304	76845304	+	Splice_Site	SNP	C	C	T			TCGA-WY-A85B-01A-11D-A36O-08	TCGA-WY-A85B-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee529a1-6577-4e99-9b07-8399e6b02b53	38a6ec3f-e917-49b1-8d02-13793403b672	g.chrX:76845304C>T	ENST00000373344.5	-	27	6431	c.6217G>A	c.(6217-6219)Ggt>Agt	p.G2073S	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Splice_Site_p.G2035S	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	2073	Helicase C-terminal.				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)	TGTAGCTCACCTTTATAAATA	0.323			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						22	2					0	0	1	0	0	T	76845304	C	T	76845304	5	4	510	1	0	0	0	0	0	0	1	0	1206	695	24	2	1297	2	ATRX	23	76845304	Splice_Site	SNP	C	TCGA-WY-A85B-01A-11D-A36O-08		76845304	78425256	20	38332											
COL24A1	255631	broad.mit.edu	37	1	86591609	86591609	+	Nonsense_Mutation	SNP	A	A	T			TCGA-WY-A85C-01A-11D-A36O-08	TCGA-WY-A85C-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a54624-8f3c-4b1b-86d5-61ba2b23301e	6b10639c-71dc-4e9e-9b88-65335e63c029	g.chr1:86591609A>T	ENST00000370571.2	-	3	776	c.410T>A	c.(409-411)tTa>tAa	p.L137*	COL24A1_ENST00000436319.1_Nonsense_Mutation_p.L137*	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	137	TSP N-terminal.				cell adhesion	collagen	extracellular matrix structural constituent			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		TTTAGGTAGTAATTGTACTCC	0.363													34	46					0	0	1	0	0	T	86591609	A	T	86591609	4	4	511	1	0	0	0	0	0	1	0	0	3706	372	13	5	4966	5	COL24A1	1	86591609	Nonsense_Mutation	SNP	A	TCGA-WY-A85C-01A-11D-A36O-08		86591609	162659012	1	38333											
LRRC52	440699	broad.mit.edu	37	1	165532816	165532816	+	Nonsense_Mutation	SNP	C	C	T			TCGA-WY-A85C-01A-11D-A36O-08	TCGA-WY-A85C-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a54624-8f3c-4b1b-86d5-61ba2b23301e	6b10639c-71dc-4e9e-9b88-65335e63c029	g.chr1:165532816C>T	ENST00000294818.1	+	2	987	c.697C>T	c.(697-699)Cga>Tga	p.R233*	RP11-280O1.2_ENST00000416424.1_RNA|RP11-280O1.2_ENST00000438275.1_RNA|RP11-280O1.2_ENST00000421273.1_RNA	NM_001005214.3	NP_001005214.2	Q8N7C0	LRC52_HUMAN	leucine rich repeat containing 52	233	LRRCT.					integral to membrane				NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)	18	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)					GAACCCACTCCGATACATGTG	0.567													15	34					0	0	1	0	0	T	165532816	C	T	165532816	4	4	511	1	0	0	0	0	0	1	0	0	9055	644	23	1	703	1	LRRC52	1	165532816	Nonsense_Mutation	SNP	C	TCGA-WY-A85C-01A-11D-A36O-08	78941207	165532816	83717805	2	38334											
FAM129A	116496	broad.mit.edu	37	1	184777346	184777346	+	Silent	SNP	A	A	G			TCGA-WY-A85C-01A-11D-A36O-08	TCGA-WY-A85C-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a54624-8f3c-4b1b-86d5-61ba2b23301e	6b10639c-71dc-4e9e-9b88-65335e63c029	g.chr1:184777346A>G	ENST00000367511.3	-	10	1390	c.1197T>C	c.(1195-1197)ctT>ctC	p.L399L	FAM129A_ENST00000487074.1_5'UTR	NM_052966.2	NP_443198.1	Q9BZQ8	NIBAN_HUMAN	family with sequence similarity 129, member A	399					negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						AATGCAGCGGAAGATTCATAA	0.453													7	55					0	0	1	0	0	G	184777346	A	G	184777346	2	3	511	1	0	0	0	0	0	0	0	1	5467	233	9	3		3	FAM129A	1	184777346	Silent	SNP	A	TCGA-WY-A85C-01A-11D-A36O-08	19244530	184777346	64473275	3	38335											
IDH1	3417	broad.mit.edu	37	2	209113113	209113113	+	Missense_Mutation	SNP	G	G	C	rs121913499		TCGA-WY-A85C-01A-11D-A36O-08	TCGA-WY-A85C-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a54624-8f3c-4b1b-86d5-61ba2b23301e	6b10639c-71dc-4e9e-9b88-65335e63c029	g.chr2:209113113G>C	ENST00000415913.1	-	4	775	c.394C>G	c.(394-396)Cgt>Ggt	p.R132G	IDH1_ENST00000345146.2_Missense_Mutation_p.R132G|IDH1_ENST00000446179.1_Missense_Mutation_p.R132G	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		TAAGCATGACGACCTATGATG	0.398			Mis		gliobastoma								53	58					0	0	1	0	0	C	209113113	G	C	209113113	3	2	511	1	0	0	0	0	1	0	0	0	7538	1058	37	5	878	5	IDH1	2	209113113	Missense_Mutation	SNP	G	TCGA-WY-A85C-01A-11D-A36O-08		209113113	34086260	4	38336											
CCKAR	886	broad.mit.edu	37	4	26483533	26483533	+	Silent	SNP	G	G	A			TCGA-WY-A85C-01A-11D-A36O-08	TCGA-WY-A85C-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a54624-8f3c-4b1b-86d5-61ba2b23301e	6b10639c-71dc-4e9e-9b88-65335e63c029	g.chr4:26483533G>A	ENST00000295589.3	-	5	1208	c.1014C>T	c.(1012-1014)taC>taT	p.Y338Y		NM_000730.2	NP_000721.1	P32238	CCKAR_HUMAN	cholecystokinin A receptor	338					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration|response to nutrient	integral to plasma membrane	cholecystokinin receptor activity	p.Y338Y(1)		NS(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|pancreas(1)|skin(1)	29		Breast(46;0.0503)			Ceruletide(DB00403)	AGGCGGTGTCGTAGGCCCGCC	0.597													5	96					0	0	1	0	0	A	26483533	G	A	26483533	2	1	511	1	0	0	0	0	0	0	0	1	2900	1140	40	1		1	CCKAR	4	26483533	Silent	SNP	G	TCGA-WY-A85C-01A-11D-A36O-08		26483533	164670743	5	38337											
SNX25	83891	broad.mit.edu	37	4	186263216	186263216	+	Nonsense_Mutation	SNP	G	G	A			TCGA-WY-A85C-01A-11D-A36O-08	TCGA-WY-A85C-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a54624-8f3c-4b1b-86d5-61ba2b23301e	6b10639c-71dc-4e9e-9b88-65335e63c029	g.chr4:186263216G>A	ENST00000504273.1	+	12	1935	c.1641G>A	c.(1639-1641)tgG>tgA	p.W547*	SNX25_ENST00000264694.8_Nonsense_Mutation_p.W547*|SNX25_ENST00000512853.1_3'UTR			Q9H3E2	SNX25_HUMAN	sorting nexin 25	547	PX.				cell communication|protein transport	endosome membrane	phosphatidylinositol binding|signal transducer activity			NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(8)|lung(13)|ovary(2)|pancreas(2)|prostate(2)|urinary_tract(2)	40		all_lung(41;1.03e-13)|Lung NSC(41;2.5e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		all cancers(43;2.13e-24)|Epithelial(43;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.6e-11)|BRCA - Breast invasive adenocarcinoma(30;0.00013)|Colorectal(24;0.000165)|GBM - Glioblastoma multiforme(59;0.000357)|COAD - Colon adenocarcinoma(29;0.000887)|STAD - Stomach adenocarcinoma(60;0.00118)|LUSC - Lung squamous cell carcinoma(40;0.0129)|READ - Rectum adenocarcinoma(43;0.228)		CTAAGAACTGGACGGTCCCCA	0.433													58	99					0	0	1	0	0	A	186263216	G	A	186263216	4	1	511	1	0	0	0	0	0	1	0	0	14950	1183	41	2	1683	2	SNX25	4	186263216	Nonsense_Mutation	SNP	G	TCGA-WY-A85C-01A-11D-A36O-08	159779683	186263216	4891060	6	38338											
DDX4	54514	broad.mit.edu	37	5	55083767	55083767	+	Missense_Mutation	SNP	G	G	T			TCGA-WY-A85C-01A-11D-A36O-08	TCGA-WY-A85C-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a54624-8f3c-4b1b-86d5-61ba2b23301e	6b10639c-71dc-4e9e-9b88-65335e63c029	g.chr5:55083767G>T	ENST00000505374.1	+	15	1203	c.1111G>T	c.(1111-1113)Gta>Tta	p.V371L	DDX4_ENST00000514278.2_Missense_Mutation_p.V351L|DDX4_ENST00000353507.5_Missense_Mutation_p.V337L|DDX4_ENST00000354991.5_Missense_Mutation_p.V337L|DDX4_ENST00000511853.1_Missense_Mutation_p.V222L	NM_024415.2	NP_077726.1	Q9NQI0	DDX4_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 4	371	Helicase ATP-binding.				multicellular organismal development|sperm motility	perinuclear region of cytoplasm|pi-body|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	24		Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223)				GTGTATTATTGTAGCACCAAC	0.388													51	56					1.81118e-26	2.06391e-26	1	1	0	T	55083767	G	T	55083767	3	4	511	1	0	0	0	0	1	0	0	0	4383	1377	48	5	1206	5	DDX4	5	55083767	Missense_Mutation	SNP	G	TCGA-WY-A85C-01A-11D-A36O-08		55083767	125831493	7	38339											
SLIT3	6586	broad.mit.edu	37	5	168310292	168310292	+	Missense_Mutation	SNP	C	C	T			TCGA-WY-A85C-01A-11D-A36O-08	TCGA-WY-A85C-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a54624-8f3c-4b1b-86d5-61ba2b23301e	6b10639c-71dc-4e9e-9b88-65335e63c029	g.chr5:168310292C>T	ENST00000519560.1	-	5	882	c.463G>A	c.(463-465)Ggc>Agc	p.G155S	SLIT3_ENST00000332966.8_Missense_Mutation_p.G155S|SLIT3_ENST00000404867.3_Missense_Mutation_p.G155S	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	155					apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TCGGTGATGCCGCGGAACGCC	0.502													23	28					0	0	1	0	0	T	168310292	C	T	168310292	3	4	511	1	0	0	0	0	1	0	0	0	14795	652	23	1	4236	1	SLIT3	5	168310292	Missense_Mutation	SNP	C	TCGA-WY-A85C-01A-11D-A36O-08	113226525	168310292	12604968	8	38340											
GPRC6A	222545	broad.mit.edu	37	6	117130667	117130667	+	Missense_Mutation	SNP	C	C	A			TCGA-WY-A85C-01A-11D-A36O-08	TCGA-WY-A85C-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a54624-8f3c-4b1b-86d5-61ba2b23301e	6b10639c-71dc-4e9e-9b88-65335e63c029	g.chr6:117130667C>A	ENST00000310357.3	-	2	329	c.308G>T	c.(307-309)tGt>tTt	p.C103F	GPRC6A_ENST00000530250.1_Missense_Mutation_p.C103F|GPRC6A_ENST00000368549.3_Missense_Mutation_p.C103F	NM_148963.2	NP_683766.2	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, family C, group 6, member A	103					response to amino acid stimulus		G-protein coupled receptor activity	p.C103F(1)		autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		GACTTCTGTACAAGTGTCATA	0.413													30	39					1.16021e-09	1.20958e-09	1	1	0	A	117130667	C	A	117130667	3	1	511	1	0	0	0	0	1	0	0	0	6769	478	17	5	2492	5	GPRC6A	6	117130667	Missense_Mutation	SNP	C	TCGA-WY-A85C-01A-11D-A36O-08		117130667	53984400	9	38341											
ROS1	6098	broad.mit.edu	37	6	117663696	117663696	+	Missense_Mutation	SNP	G	G	C			TCGA-WY-A85C-01A-11D-A36O-08	TCGA-WY-A85C-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a54624-8f3c-4b1b-86d5-61ba2b23301e	6b10639c-71dc-4e9e-9b88-65335e63c029	g.chr6:117663696G>C	ENST00000368508.3	-	28	4734	c.4536C>G	c.(4534-4536)gaC>gaG	p.D1512E	ROS1_ENST00000368507.3_Missense_Mutation_p.D1506E|GOPC_ENST00000467125.1_Intron	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	1512	Fibronectin type-III 6.				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		GAGCTATACTGTCCTGAAATT	0.259			T	"GOPC, SDC4, SLC34A2, EZR, LRIG3"	"glioblastoma, NSCLC"								13	21					0	0	1	0	0	C	117663696	G	C	117663696	3	2	511	1	0	0	0	0	1	0	0	0	13583	1368	48	5	2571	5	ROS1	6	117663696	Missense_Mutation	SNP	G	TCGA-WY-A85C-01A-11D-A36O-08	533029	117663696	53451371	10	38342											
DNAH11	8701	broad.mit.edu	37	7	21781718	21781718	+	Frame_Shift_Del	DEL	C	C	-			TCGA-WY-A85C-01A-11D-A36O-08	TCGA-WY-A85C-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a54624-8f3c-4b1b-86d5-61ba2b23301e	6b10639c-71dc-4e9e-9b88-65335e63c029	g.chr7:21781718delC	ENST00000328843.6	+	50	8140	c.8109delC	c.(8107-8109)aacfs	p.N2703fs	DNAH11_ENST00000409508.3_Frame_Shift_Del_p.N2696fs			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	2703	AAA 3 (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TGATGTGTAACTTTTTACCCA	0.418									Kartagener syndrome				36	74	---	---	---	---						-	21781718	C	-	21781718	7	5	511	1	0	1	0	1	0	0	0	0	4627	564	20	0	8304	0	DNAH11	7	21781718	Frame_Shift_Del	DEL	C	TCGA-WY-A85C-01A-11D-A36O-08		21781718	137356945	11	38343											
OR2A12	346525	broad.mit.edu	37	7	143792751	143792751	+	Missense_Mutation	SNP	T	T	A			TCGA-WY-A85C-01A-11D-A36O-08	TCGA-WY-A85C-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a54624-8f3c-4b1b-86d5-61ba2b23301e	6b10639c-71dc-4e9e-9b88-65335e63c029	g.chr7:143792751T>A	ENST00000408949.2	+	1	611	c.551T>A	c.(550-552)tTc>tAc	p.F184Y		NM_001004135.1	NP_001004135.1	Q8NGT7	O2A12_HUMAN	olfactory receptor, family 2, subfamily A, member 12	184					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)	25	Melanoma(164;0.0783)					ATGTCCGTATTCAAATTGGCC	0.493													12	146					0	0	1	0	0	A	143792751	T	A	143792751	3	1	511	1	0	0	0	0	1	0	0	0	11023	1783	62	5	553	5	OR2A12	7	143792751	Missense_Mutation	SNP	T	TCGA-WY-A85C-01A-11D-A36O-08	122011033	143792751	15345912	12	38344											
GEM	2669	broad.mit.edu	37	8	95272441	95272441	+	Silent	SNP	A	A	G			TCGA-WY-A85C-01A-11D-A36O-08	TCGA-WY-A85C-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a54624-8f3c-4b1b-86d5-61ba2b23301e	6b10639c-71dc-4e9e-9b88-65335e63c029	g.chr8:95272441A>G	ENST00000297596.2	-	2	555	c.291T>C	c.(289-291)ggT>ggC	p.G97G	GEM_ENST00000396194.2_Silent_p.G97G	NM_005261.3	NP_005252.1	P55040	GEM_HUMAN	GTP binding protein overexpressed in skeletal muscle	97					cell surface receptor linked signaling pathway|immune response|small GTPase mediated signal transduction	internal side of plasma membrane	calmodulin binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding			endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	22	Breast(36;4.65e-06)	Myeloproliferative disorder(644;0.204)	BRCA - Breast invasive adenocarcinoma(8;0.00691)			TGTCATGCACACCTGCAAAGA	0.592													28	56					0	0	1	0	0	G	95272441	A	G	95272441	2	3	511	1	0	0	0	0	0	0	0	1	6371	146	6	3		3	GEM	8	95272441	Silent	SNP	A	TCGA-WY-A85C-01A-11D-A36O-08		95272441	51091581	13	38345											
SLK	9748	broad.mit.edu	37	10	105765409	105765409	+	Frame_Shift_Del	DEL	A	A	-			TCGA-WY-A85C-01A-11D-A36O-08	TCGA-WY-A85C-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a54624-8f3c-4b1b-86d5-61ba2b23301e	6b10639c-71dc-4e9e-9b88-65335e63c029	g.chr10:105765409delA	ENST00000369755.3	+	10	2985	c.2440delA	c.(2440-2442)acafs	p.T814fs	SLK_ENST00000335753.4_Frame_Shift_Del_p.T814fs	NM_014720.2	NP_055535.2	Q9H2G2	SLK_HUMAN	STE20-like kinase	814					apoptosis|nucleotide-excision repair	cytoplasm|plasma membrane	ATP binding|DNA binding|nuclease activity|protein serine/threonine kinase activity			kidney(1)|lung(1)|ovary(2)|skin(2)|stomach(2)	8		Colorectal(252;0.178)		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		AAAGATAGTTACAGATAGTGA	0.343													33	35	---	---	---	---						-	105765409	A	-	105765409	7	5	511	1	0	1	0	1	0	0	0	0	14802	391	14	0	2478	0	SLK	10	105765409	Frame_Shift_Del	DEL	A	TCGA-WY-A85C-01A-11D-A36O-08		105765409	29769338	14	38346											
OR10A4	283297	broad.mit.edu	37	11	6898108	6898108	+	Missense_Mutation	SNP	T	T	C			TCGA-WY-A85C-01A-11D-A36O-08	TCGA-WY-A85C-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a54624-8f3c-4b1b-86d5-61ba2b23301e	6b10639c-71dc-4e9e-9b88-65335e63c029	g.chr11:6898108T>C	ENST00000379829.2	+	1	253	c.230T>C	c.(229-231)gTc>gCc	p.V77A		NM_207186.2	NP_997069.2	Q9H209	O10A4_HUMAN	olfactory receptor, family 10, subfamily A, member 4	77					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(2)|liver(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	31		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		TTCAACTTGGTCATTGTGCCC	0.458													6	89					0	0	1	0	0	C	6898108	T	C	6898108	3	2	511	1	0	0	0	0	1	0	0	0	10940	1667	58	3	232	3	OR10A4	11	6898108	Missense_Mutation	SNP	T	TCGA-WY-A85C-01A-11D-A36O-08		6898108	128108408	15	38347											
PHLDB1	23187	broad.mit.edu	37	11	118513008	118513021	+	Frame_Shift_Del	DEL	CAGTGGTACCAGGA	CAGTGGTACCAGGA	-			TCGA-WY-A85C-01A-11D-A36O-08	TCGA-WY-A85C-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a54624-8f3c-4b1b-86d5-61ba2b23301e	6b10639c-71dc-4e9e-9b88-65335e63c029	g.chr11:118513008_118513021delCAGTGGTACCAGGA	ENST00000361417.2	+	14	3184_3197	c.2773_2786delCAGTGGTACCAGGA	c.(2773-2787)cagtggtaccaggagfs	p.QWYQE925fs	PHLDB1_ENST00000534672.1_Intron|PHLDB1_ENST00000524713.1_Frame_Shift_Del_p.QWYQE68fs|PHLDB1_ENST00000527898.1_Intron|PHLDB1_ENST00000356063.5_Intron	NM_015157.3	NP_055972.1	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B, member 1	925										breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		AGACTTAGAGCAGTGGTACCAGGAGCTGATGGCC	0.64													24	102	---	---	---	---						-	118513021	CAGTGGTACCAGGA	-	118513008	7	5	511	1	0	1	0	1	0	0	0	0	11899	711	25	0	2819	0	PHLDB1	11	118513008	Frame_Shift_Del	DEL	CAGTGGTACCAGGA	TCGA-WY-A85C-01A-11D-A36O-08	111614900	118513008	16493508	16	38348											
CHD4	1108	broad.mit.edu	37	12	6690297	6690297	+	Missense_Mutation	SNP	C	C	T			TCGA-WY-A85C-01A-11D-A36O-08	TCGA-WY-A85C-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a54624-8f3c-4b1b-86d5-61ba2b23301e	6b10639c-71dc-4e9e-9b88-65335e63c029	g.chr12:6690297C>T	ENST00000309577.6	-	32	5069	c.4906G>A	c.(4906-4908)Gtt>Att	p.V1636I	RP5-940J5.6_ENST00000501075.2_RNA|CHD4_ENST00000357008.2_Missense_Mutation_p.V1608I|CHD4_ENST00000544040.1_Missense_Mutation_p.V1601I|CHD4_ENST00000544484.1_Missense_Mutation_p.V1633I			Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	1608	Required for interaction with PCNT.				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2						GGTTCAACAACGACCTTTTCA	0.478													68	95					0	0	1	0	0	T	6690297	C	T	6690297	3	4	511	1	0	0	0	0	1	0	0	0	3349	536	19	1	948	1	CHD4	12	6690297	Missense_Mutation	SNP	C	TCGA-WY-A85C-01A-11D-A36O-08		6690297	127161598	17	38349											
MDM2	4193	broad.mit.edu	37	12	69210669	69210669	+	Silent	SNP	A	A	C			TCGA-WY-A85C-01A-11D-A36O-08	TCGA-WY-A85C-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a54624-8f3c-4b1b-86d5-61ba2b23301e	6b10639c-71dc-4e9e-9b88-65335e63c029	g.chr12:69210669A>C	ENST00000462284.1	+	4	554	c.252A>C	c.(250-252)tcA>tcC	p.S84S	MDM2_ENST00000517852.1_Intron|MDM2_ENST00000356290.4_Intron|MDM2_ENST00000393410.1_Intron|MDM2_ENST00000258149.5_Silent_p.S78S|MDM2_ENST00000540827.1_Intron|MDM2_ENST00000428863.2_Intron|MDM2_ENST00000393412.3_Intron|MDM2_ENST00000258148.7_Silent_p.S84S|MDM2_ENST00000350057.5_Silent_p.S53S|MDM2_ENST00000544561.1_Intron|MDM2_ENST00000478070.1_Intron|MDM2_ENST00000348801.2_Intron|MDM2_ENST00000360430.2_Intron|MDM2_ENST00000545204.1_Intron|MDM2_ENST00000393413.3_Intron|MDM2_ENST00000299252.4_Intron	NM_002392.4	NP_002383.2	Q00987	MDM2_HUMAN	MDM2 oncogene, E3 ubiquitin protein ligase	78	Necessary for interaction with USP2.|SWIB.				cellular response to hypoxia|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|establishment of protein localization|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell cycle arrest|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mitotic cell cycle|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein complex assembly|protein destabilization|protein localization to nucleus|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to antibiotic|synaptic transmission	cytosol|endocytic vesicle membrane|insoluble fraction|nucleolus|nucleoplasm|plasma membrane|protein complex	enzyme binding|identical protein binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(8)|prostate(1)|urinary_tract(1)	19	all_cancers(1;8.46e-121)|all_epithelial(5;3.21e-36)|Lung NSC(4;2.16e-33)|all_lung(4;3.03e-31)|Glioma(1;1.9e-09)|Breast(13;1.59e-06)|all_neural(1;1.03e-05)|Melanoma(1;0.0171)|Renal(347;0.0684)		all cancers(2;8.67e-65)|GBM - Glioblastoma multiforme(2;8.89e-62)|BRCA - Breast invasive adenocarcinoma(5;2.43e-08)|Lung(24;1.5e-05)|LUAD - Lung adenocarcinoma(15;8.5e-05)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)			TATATTGTTCAAATGATCTTC	0.343			A		"sarcoma, glioma, colorectal, other"								33	43					0	0	1	0	0	C	69210669	A	C	69210669	2	2	511	1	0	0	0	0	0	0	0	1	9463	117	5	5		5	MDM2	12	69210669	Silent	SNP	A	TCGA-WY-A85C-01A-11D-A36O-08	62520372	69210669	64641226	18	38350											
MTUS2	23281	broad.mit.edu	37	13	29600725	29600725	+	Missense_Mutation	SNP	G	G	T			TCGA-WY-A85C-01A-11D-A36O-08	TCGA-WY-A85C-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a54624-8f3c-4b1b-86d5-61ba2b23301e	6b10639c-71dc-4e9e-9b88-65335e63c029	g.chr13:29600725G>T	ENST00000431530.3	+	1	1978	c.1920G>T	c.(1918-1920)aaG>aaT	p.K640N		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	630						cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						CAGAAACTAAGCCCATCATTA	0.542													14	27					2.61681e-11	2.78748e-11	1	1	0	T	29600725	G	T	29600725	3	4	511	1	0	0	0	0	1	0	0	0	10014	962	34	4	1922	4	MTUS2	13	29600725	Missense_Mutation	SNP	G	TCGA-WY-A85C-01A-11D-A36O-08		29600725	85569153	19	38351											
EFNB2	1948	broad.mit.edu	37	13	107165059	107165059	+	Missense_Mutation	SNP	T	T	G			TCGA-WY-A85C-01A-11D-A36O-08	TCGA-WY-A85C-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a54624-8f3c-4b1b-86d5-61ba2b23301e	6b10639c-71dc-4e9e-9b88-65335e63c029	g.chr13:107165059T>G	ENST00000245323.4	-	2	373	c.224A>C	c.(223-225)tAt>tCt	p.Y75S		NM_004093.3	NP_004084.1	P52799	EFNB2_HUMAN	ephrin-B2	75					cell differentiation|cell-cell signaling|interspecies interaction between organisms|nervous system development	integral to plasma membrane	ephrin receptor binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	13	Lung NSC(43;0.015)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169)					AACTTTATAATATTCATACTG	0.393													7	131					0	0	1	0	0	G	107165059	T	G	107165059	3	3	511	1	0	0	0	0	1	0	0	0	4982	1406	49	4	793	4	EFNB2	13	107165059	Missense_Mutation	SNP	T	TCGA-WY-A85C-01A-11D-A36O-08	77564334	107165059	8004819	20	38352											
KIAA0586	9786	broad.mit.edu	37	14	58955472	58955472	+	Missense_Mutation	SNP	T	T	G			TCGA-WY-A85C-01A-11D-A36O-08	TCGA-WY-A85C-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a54624-8f3c-4b1b-86d5-61ba2b23301e	6b10639c-71dc-4e9e-9b88-65335e63c029	g.chr14:58955472T>G	ENST00000423743.3	+	25	3787	c.3529T>G	c.(3529-3531)Tct>Gct	p.S1177A	KIAA0586_ENST00000354386.6_Missense_Mutation_p.S1274A|KIAA0586_ENST00000556134.1_Missense_Mutation_p.S1206A|KIAA0586_ENST00000261244.5_Missense_Mutation_p.S1145A|KIAA0586_ENST00000538571.2_3'UTR	NM_001244191.1|NM_001244192.1	NP_001231120.1|NP_001231121.1	E9PGW8	E9PGW8_HUMAN	KIAA0586	1145										endometrium(4)|kidney(6)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GATGCCAGGTTCTGATTCATC	0.488													3	62					0	0	1	0	0	G	58955472	T	G	58955472	3	3	511	1	0	0	0	0	1	0	0	0	8228	1783	62	5	3523	5	KIAA0586	14	58955472	Missense_Mutation	SNP	T	TCGA-WY-A85C-01A-11D-A36O-08		58955472	48394068	21	38353											
TTBK2	146057	broad.mit.edu	37	15	43038404	43038404	+	Missense_Mutation	SNP	G	G	C			TCGA-WY-A85C-01A-11D-A36O-08	TCGA-WY-A85C-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a54624-8f3c-4b1b-86d5-61ba2b23301e	6b10639c-71dc-4e9e-9b88-65335e63c029	g.chr15:43038404G>C	ENST00000267890.6	-	15	3432	c.3324C>G	c.(3322-3324)ttC>ttG	p.F1108L		NM_173500.3	NP_775771.3	Q6IQ55	TTBK2_HUMAN	tau tubulin kinase 2	1108					cell death		ATP binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;3.23e-07)		CCAGGCGGGAGAAAAGGTCTG	0.418													19	9					0	0	1	0	0	C	43038404	G	C	43038404	3	2	511	1	0	0	0	0	1	0	0	0	16739	933	33	4	414	4	TTBK2	15	43038404	Missense_Mutation	SNP	G	TCGA-WY-A85C-01A-11D-A36O-08		43038404	59492988	22	38354											
CACNG3	10368	broad.mit.edu	37	16	24372736	24372736	+	Missense_Mutation	SNP	G	G	A	rs150191653		TCGA-WY-A85C-01A-11D-A36O-08	TCGA-WY-A85C-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a54624-8f3c-4b1b-86d5-61ba2b23301e	6b10639c-71dc-4e9e-9b88-65335e63c029	g.chr16:24372736G>A	ENST00000005284.3	+	4	1702	c.500G>A	c.(499-501)cGt>cAt	p.R167H		NM_006539.3	NP_006530.1	O60359	CCG3_HUMAN	calcium channel, voltage-dependent, gamma subunit 3	167					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2)	40				GBM - Glioblastoma multiforme(48;0.0809)		CCCGGGCAGCGTGACTCCAAA	0.443													5	168					0	0	1	0	0	A	24372736	G	A	24372736	3	1	511	1	0	0	0	0	1	0	0	0	2576	1145	40	1	514	1	CACNG3	16	24372736	Missense_Mutation	SNP	G	TCGA-WY-A85C-01A-11D-A36O-08		24372736	65982017	23	38355											
C16orf78	123970	broad.mit.edu	37	16	49433165	49433165	+	Silent	SNP	C	C	T			TCGA-WY-A85C-01A-11D-A36O-08	TCGA-WY-A85C-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a54624-8f3c-4b1b-86d5-61ba2b23301e	6b10639c-71dc-4e9e-9b88-65335e63c029	g.chr16:49433165C>T	ENST00000299191.3	+	5	891	c.774C>T	c.(772-774)acC>acT	p.T258T		NM_144602.2	NP_653203.1	Q8WTQ4	CP078_HUMAN	chromosome 16 open reading frame 78	258										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(1)	22						AGGTGTTCACCGGAATACCCA	0.522													24	30					0	0	1	0	0	T	49433165	C	T	49433165	2	4	511	1	0	0	0	0	0	0	0	1	1842	639	23	1		1	C16orf78	16	49433165	Silent	SNP	C	TCGA-WY-A85C-01A-11D-A36O-08	25060429	49433165	40921588	24	38356											
TP53	7157	broad.mit.edu	37	17	7578406	7578406	+	Missense_Mutation	SNP	C	C	T	rs28934578		TCGA-WY-A85C-01A-11D-A36O-08	TCGA-WY-A85C-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a54624-8f3c-4b1b-86d5-61ba2b23301e	6b10639c-71dc-4e9e-9b88-65335e63c029	g.chr17:7578406C>T	ENST00000420246.2	-	5	656	c.524G>A	c.(523-525)cGc>cAc	p.R175H	TP53_ENST00000574684.1_5'UTR|TP53_ENST00000413465.2_Missense_Mutation_p.R175H|TP53_ENST00000455263.2_Missense_Mutation_p.R175H|TP53_ENST00000269305.4_Missense_Mutation_p.R175H|TP53_ENST00000445888.2_Missense_Mutation_p.R175H|TP53_ENST00000359597.4_Missense_Mutation_p.R175H	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	175	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> C (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; dbSNP:rs28934578).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> 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.R175H(847)|p.R43H(36)|p.R82H(36)|p.R175L(19)|p.0?(8)|p.R175P(6)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*5(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(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)		GTGGGGGCAGCGCCTCACAAC	0.652	R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY)	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)			25	47					0	0	1	0	0	T	7578406	C	T	7578406	3	4	511	1	0	0	0	0	1	0	0	0	16442	768	27	1	774	1	TP53	17	7578406	Missense_Mutation	SNP	C	TCGA-WY-A85C-01A-11D-A36O-08		7578406	73616804	25	38357											
TP53	7157	broad.mit.edu	37	17	7579716	7579716	+	Frame_Shift_Del	DEL	G	G	-			TCGA-WY-A85C-01A-11D-A36O-08	TCGA-WY-A85C-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a54624-8f3c-4b1b-86d5-61ba2b23301e	6b10639c-71dc-4e9e-9b88-65335e63c029	g.chr17:7579716delG	ENST00000420246.2	-	3	212	c.80delC	c.(79-81)cctfs	p.P27fs	TP53_ENST00000359597.4_Frame_Shift_Del_p.P27fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.P27fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.P27fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.P27fs|TP53_ENST00000269305.4_Frame_Shift_Del_p.P27fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	27	Interaction with HRMT1L2.|Transcription activation (acidic).				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.0?(8)|p.P27fs*17(4)|p.P27fs*50(1)|p.P13fs*18(1)|p.L26fs*11(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)		GTTGTTTTCAGGAAGTCTGAA	0.617		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)			37	37	---	---	---	---						-	7579716	G	-	7579716	7	5	511	1	0	1	0	1	0	0	0	0	16442	1000	35	0	1226	0	TP53	17	7579716	Frame_Shift_Del	DEL	G	TCGA-WY-A85C-01A-11D-A36O-08	1310	7579716	73615494	26	38358											
MYH13	8735	broad.mit.edu	37	17	10212891	10212891	+	Missense_Mutation	SNP	C	C	T			TCGA-WY-A85C-01A-11D-A36O-08	TCGA-WY-A85C-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a54624-8f3c-4b1b-86d5-61ba2b23301e	6b10639c-71dc-4e9e-9b88-65335e63c029	g.chr17:10212891C>T	ENST00000418404.3	-	33	5076	c.4913G>A	c.(4912-4914)cGc>cAc	p.R1638H	MYH13_ENST00000252172.4_Missense_Mutation_p.R1638H|RP11-401O9.4_ENST00000609088.1_RNA			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1638					muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						TGCCATCTGGCGGTTGGAGTG	0.622													11	22					0	0	1	0	0	T	10212891	C	T	10212891	3	4	511	1	0	0	0	0	1	0	0	0	10080	768	27	1	935	1	MYH13	17	10212891	Missense_Mutation	SNP	C	TCGA-WY-A85C-01A-11D-A36O-08	2633175	10212891	70982319	27	38359											
ANKRD24	170961	broad.mit.edu	37	19	4222733	4222733	+	Missense_Mutation	SNP	G	G	A			TCGA-WY-A85C-01A-11D-A36O-08	TCGA-WY-A85C-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a54624-8f3c-4b1b-86d5-61ba2b23301e	6b10639c-71dc-4e9e-9b88-65335e63c029	g.chr19:4222733G>A	ENST00000600132.1	+	20	3514	c.3238G>A	c.(3238-3240)Gcc>Acc	p.A1080T	ANKRD24_ENST00000318934.4_Missense_Mutation_p.A1080T|ANKRD24_ENST00000262970.5_Missense_Mutation_p.A1170T	NM_133475.1	NP_597732.1	Q8TF21	ANR24_HUMAN	ankyrin repeat domain 24	1080										endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	21				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181)		GGCCGCCCTCGCCACCCCTGA	0.592													4	16					0	0	1	0	0	A	4222733	G	A	4222733	3	1	511	1	0	0	0	0	1	0	0	0	649	1087	38	1	3312	1	ANKRD24	19	4222733	Missense_Mutation	SNP	G	TCGA-WY-A85C-01A-11D-A36O-08		4222733	54906250	28	38360											
MUC16	94025	broad.mit.edu	37	19	9061576	9061576	+	Missense_Mutation	SNP	C	C	A			TCGA-WY-A85C-01A-11D-A36O-08	TCGA-WY-A85C-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a54624-8f3c-4b1b-86d5-61ba2b23301e	6b10639c-71dc-4e9e-9b88-65335e63c029	g.chr19:9061576C>A	ENST00000397910.4	-	3	26073	c.25870G>T	c.(25870-25872)Gct>Tct	p.A8624S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8626	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AATATTTCAGCTGAGGTGCTG	0.458													4	99					1.23904e-05	1.26485e-05	1	1	0	A	9061576	C	A	9061576	3	1	511	1	0	0	0	0	1	0	0	0	10021	797	28	4	17981	4	MUC16	19	9061576	Missense_Mutation	SNP	C	TCGA-WY-A85C-01A-11D-A36O-08	4838843	9061576	50067407	29	38361											
CD79A	973	broad.mit.edu	37	19	42384999	42384999	+	Frame_Shift_Del	DEL	G	G	-			TCGA-WY-A85C-01A-11D-A36O-08	TCGA-WY-A85C-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a54624-8f3c-4b1b-86d5-61ba2b23301e	6b10639c-71dc-4e9e-9b88-65335e63c029	g.chr19:42384999delG	ENST00000221972.3	+	5	818	c.633delG	c.(631-633)cagfs	p.Q211fs	CD79A_ENST00000444740.2_Frame_Shift_Del_p.Q173fs	NM_001783.3|NM_021601.3	NP_001774.1|NP_067612.1	P11912	CD79A_HUMAN	CD79a molecule, immunoglobulin-associated alpha	211					B cell differentiation|B cell proliferation|B cell receptor signaling pathway	B cell receptor complex|external side of plasma membrane|integral to membrane|membrane raft|multivesicular body	transmembrane receptor activity			large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	11						GCACCTACCAGGATGTGGGCA	0.627			"O, S"		DLBCL								2	4	---	---	---	---						-	42384999	G	-	42384999	7	5	511	1	0	1	0	1	0	0	0	0	3058	991	35	0	651	0	CD79A	19	42384999	Frame_Shift_Del	DEL	G	TCGA-WY-A85C-01A-11D-A36O-08	33323423	42384999	16743984	30	38362											
BAGE2	85319	broad.mit.edu	37	21	11038985	11038985	+	RNA	SNP	G	G	T			TCGA-WY-A85C-01A-11D-A36O-08	TCGA-WY-A85C-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a54624-8f3c-4b1b-86d5-61ba2b23301e	6b10639c-71dc-4e9e-9b88-65335e63c029	g.chr21:11038985G>T	ENST00000470054.1	-	0	1218									B melanoma antigen family, member 2															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)		TAACTTTATAGATTTGCCTCC	0.403													40	434					5.20837e-25	5.80023e-25	1	1	0	T	11038985	G	T	11038985	1	4	511	0	1	0	0	0	0	0	0	0	1290	957	33	4		4	BAGE2	21	11038985	RNA	SNP	G	TCGA-WY-A85C-01A-11D-A36O-08		11038985	37090910	31	38363											
CBS	875	broad.mit.edu	37	21	44486353	44486353	+	Splice_Site	SNP	C	C	T			TCGA-WY-A85C-01A-11D-A36O-08	TCGA-WY-A85C-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a54624-8f3c-4b1b-86d5-61ba2b23301e	6b10639c-71dc-4e9e-9b88-65335e63c029	g.chr21:44486353C>T	ENST00000398165.3	-	5	710	c.451G>A	c.(451-453)Ggg>Agg	p.G151R	CBS_ENST00000398158.1_Splice_Site_p.G151R|CBS_ENST00000352178.5_Splice_Site_p.G151R|CBS_ENST00000470912.1_5'UTR|CBS_ENST00000544202.1_Splice_Site_p.G63R|CBS_ENST00000398168.1_Splice_Site_p.G151R|CBS_ENST00000359624.3_Splice_Site_p.G151R	NM_000071.2	NP_000062.1	P35520	CBS_HUMAN	cystathionine-beta-synthase	151			G -> R (in CBSD).|Missing (in CBSD).		cysteine biosynthetic process from serine|cysteine biosynthetic process via cystathionine|homocysteine catabolic process|hydrogen sulfide biosynthetic process|L-cysteine catabolic process|L-serine catabolic process	cytosol|nucleolus	cystathionine beta-synthase activity|heme binding|protein homodimerization activity|pyridoxal phosphate binding|ubiquitin protein ligase binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(8)	17					L-Cysteine(DB00151)|L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|S-Adenosylmethionine(DB00118)	TGGCACCCACCGGTGTTCCCG	0.687													4	68					0	0	1	0	0	T	44486353	C	T	44486353	5	4	511	1	0	0	0	0	0	0	1	0	2729	666	23	1	1256	1	CBS	21	44486353	Splice_Site	SNP	C	TCGA-WY-A85C-01A-11D-A36O-08	33447368	44486353	3643542	32	38364											
TBX22	50945	broad.mit.edu	37	X	79286146	79286146	+	Missense_Mutation	SNP	G	G	A			TCGA-WY-A85C-01A-11D-A36O-08	TCGA-WY-A85C-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a54624-8f3c-4b1b-86d5-61ba2b23301e	6b10639c-71dc-4e9e-9b88-65335e63c029	g.chrX:79286146G>A	ENST00000442340.1	+	9	1229	c.739G>A	c.(739-741)Gtc>Atc	p.V247I	TBX22_ENST00000373294.5_Missense_Mutation_p.V367I|TBX22_ENST00000373291.1_Missense_Mutation_p.V247I|TBX22_ENST00000373296.3_Missense_Mutation_p.V367I	NM_001109878.1|NM_001109879.1	NP_001103348.1|NP_001103349.1	Q9Y458	TBX22_HUMAN	T-box 22	367					multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(13)|lung(38)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						CCTGCCCAATGTCAACCTGCC	0.448													73	12					0	0	1	0	0	A	79286146	G	A	79286146	3	1	511	1	0	0	0	0	1	0	0	0	15718	1377	48	2	1129	2	TBX22	23	79286146	Missense_Mutation	SNP	G	TCGA-WY-A85C-01A-11D-A36O-08		79286146	75984414	33	38365											
C1orf172	126695	broad.mit.edu	37	1	27277235	27277235	+	Missense_Mutation	SNP	T	T	C			TCGA-WY-A85D-01A-11D-A36O-08	TCGA-WY-A85D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	577d0588-d7bf-4c36-bedf-48df83824fc0	4accff73-f2d9-4a7f-ac9f-54c1f1e62555	g.chr1:27277235T>C	ENST00000320567.5	-	3	1140	c.1052A>G	c.(1051-1053)cAg>cGg	p.Q351R		NM_152365.2	NP_689578.2	Q8NAX2	CA172_HUMAN	chromosome 1 open reading frame 172	351										NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.37e-51)|OV - Ovarian serous cystadenocarcinoma(117;2.22e-29)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)		CTGGGAGATCTGCACTGTCAG	0.572													9	75					0	0	1	0	0	C	27277235	T	C	27277235	3	2	512	1	0	0	0	0	1	0	0	0	2026	1580	55	3	152	3	C1orf172	1	27277235	Missense_Mutation	SNP	T	TCGA-WY-A85D-01A-11D-A36O-08		27277235	221973386	1	38366											
RIMKLA	284716	broad.mit.edu	37	1	42870214	42870214	+	Missense_Mutation	SNP	G	G	A			TCGA-WY-A85D-01A-11D-A36O-08	TCGA-WY-A85D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	577d0588-d7bf-4c36-bedf-48df83824fc0	4accff73-f2d9-4a7f-ac9f-54c1f1e62555	g.chr1:42870214G>A	ENST00000431473.3	+	3	556	c.427G>A	c.(427-429)Gaa>Aaa	p.E143K		NM_173642.3	NP_775913.2	Q8IXN7	RIMKA_HUMAN	ribosomal modification protein rimK-like family member A	143	ATP-grasp.				protein modification process	cytoplasm	acid-amino acid ligase activity|ATP binding|metal ion binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	13						AATGATTGATGAAGCTGAGCC	0.567													29	46					0	0	1	0	0	A	42870214	G	A	42870214	3	1	512	1	0	0	0	0	1	0	0	0	13417	1291	45	2	437	2	RIMKLA	1	42870214	Missense_Mutation	SNP	G	TCGA-WY-A85D-01A-11D-A36O-08	15592979	42870214	206380407	2	38367											
LRIG2	9860	broad.mit.edu	37	1	113657236	113657236	+	Silent	SNP	C	C	T			TCGA-WY-A85D-01A-11D-A36O-08	TCGA-WY-A85D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	577d0588-d7bf-4c36-bedf-48df83824fc0	4accff73-f2d9-4a7f-ac9f-54c1f1e62555	g.chr1:113657236C>T	ENST00000361127.5	+	15	2466	c.2268C>T	c.(2266-2268)gcC>gcT	p.A756A	LRIG2_ENST00000492207.1_3'UTR	NM_014813.1	NP_055628.1	O94898	LRIG2_HUMAN	leucine-rich repeats and immunoglobulin-like domains 2		Ig-like C2-type 3.					cytoplasm|integral to membrane|plasma membrane				breast(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(10)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	31	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)		TTGTAGATGCCGGGCTAGAAG	0.473													4	144					0	0	1	0	0	T	113657236	C	T	113657236	2	4	512	1	0	0	0	0	0	0	0	1	8990	639	23	1		1	LRIG2	1	113657236	Silent	SNP	C	TCGA-WY-A85D-01A-11D-A36O-08	70787022	113657236	135593385	3	38368											
SPAG17	200162	broad.mit.edu	37	1	118640423	118640423	+	Missense_Mutation	SNP	G	G	C			TCGA-WY-A85D-01A-11D-A36O-08	TCGA-WY-A85D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	577d0588-d7bf-4c36-bedf-48df83824fc0	4accff73-f2d9-4a7f-ac9f-54c1f1e62555	g.chr1:118640423G>C	ENST00000336338.5	-	7	946	c.881C>G	c.(880-882)aCt>aGt	p.T294S		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	294						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		CTTCCAGAAAGTTTTAAGCTC	0.328													22	31					0	0	1	0	0	C	118640423	G	C	118640423	3	2	512	1	0	0	0	0	1	0	0	0	15035	1029	36	4	5958	4	SPAG17	1	118640423	Missense_Mutation	SNP	G	TCGA-WY-A85D-01A-11D-A36O-08	4983187	118640423	130610198	4	38369											
OR10R2	343406	broad.mit.edu	37	1	158450564	158450564	+	Silent	SNP	G	G	A	rs146808200		TCGA-WY-A85D-01A-11D-A36O-08	TCGA-WY-A85D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	577d0588-d7bf-4c36-bedf-48df83824fc0	4accff73-f2d9-4a7f-ac9f-54c1f1e62555	g.chr1:158450564G>A	ENST00000368152.1	+	1	897	c.897G>A	c.(895-897)acG>acA	p.T299T	RP11-144L1.4_ENST00000426251.1_RNA|RP11-144L1.4_ENST00000419738.1_RNA	NM_001004472.1	NP_001004472.1	Q8NGX6	O10R2_HUMAN	olfactory receptor, family 10, subfamily R, member 2	299					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(26)|pancreas(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	41	all_hematologic(112;0.0378)					TGACATACACGATTGTCACTC	0.433													26	41					0	0	1	0	0	A	158450564	G	A	158450564	2	1	512	1	0	0	0	0	0	0	0	1	10965	1045	37	1		1	OR10R2	1	158450564	Silent	SNP	G	TCGA-WY-A85D-01A-11D-A36O-08	39810141	158450564	90800057	5	38370											
BCL11A	53335	broad.mit.edu	37	2	60687797	60687797	+	Silent	SNP	G	G	T			TCGA-WY-A85D-01A-11D-A36O-08	TCGA-WY-A85D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	577d0588-d7bf-4c36-bedf-48df83824fc0	4accff73-f2d9-4a7f-ac9f-54c1f1e62555	g.chr2:60687797G>T	ENST00000335712.6	-	4	2477	c.2250C>A	c.(2248-2250)gtC>gtA	p.V750V	BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000538214.1_Silent_p.V716V|BCL11A_ENST00000359629.5_Intron|BCL11A_ENST00000537768.1_Intron|BCL11A_ENST00000358510.4_Silent_p.V716V|BCL11A_ENST00000356842.4_Intron	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)	750					negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			AGTTCTTGAAGACTTTCCCAC	0.562			T	IGH@	B-CLL								88	128					1.26458e-31	1.38502e-31	1	1	0	T	60687797	G	T	60687797	2	4	512	1	0	0	0	0	0	0	0	1	1361	929	33	4		4	BCL11A	2	60687797	Silent	SNP	G	TCGA-WY-A85D-01A-11D-A36O-08		60687797	182511576	6	38371											
B3GNT2	10678	broad.mit.edu	37	2	62449961	62449961	+	Missense_Mutation	SNP	T	T	A			TCGA-WY-A85D-01A-11D-A36O-08	TCGA-WY-A85D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	577d0588-d7bf-4c36-bedf-48df83824fc0	4accff73-f2d9-4a7f-ac9f-54c1f1e62555	g.chr2:62449961T>A	ENST00000301998.4	+	2	858	c.606T>A	c.(604-606)agT>agA	p.S202R	B3GNT2_ENST00000405767.1_Missense_Mutation_p.S202R	NM_006577.5	NP_006568.2	Q9NY97	B3GN2_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 2	202						Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)	18	Lung NSC(7;0.031)|all_lung(7;0.0634)		LUSC - Lung squamous cell carcinoma(7;3.55e-06)|Epithelial(17;0.0963)			AATTTGAGAGTGAGAAGCACC	0.507													30	68					0	0	1	0	0	A	62449961	T	A	62449961	3	1	512	1	0	0	0	0	1	0	0	0	1255	1693	59	5	608	5	B3GNT2	2	62449961	Missense_Mutation	SNP	T	TCGA-WY-A85D-01A-11D-A36O-08	1762164	62449961	180749412	7	38372											
ANAPC1	64682	broad.mit.edu	37	2	112596041	112596041	+	Missense_Mutation	SNP	T	T	C			TCGA-WY-A85D-01A-11D-A36O-08	TCGA-WY-A85D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	577d0588-d7bf-4c36-bedf-48df83824fc0	4accff73-f2d9-4a7f-ac9f-54c1f1e62555	g.chr2:112596041T>C	ENST00000341068.3	-	18	2861	c.2089A>G	c.(2089-2091)Agg>Ggg	p.R697G		NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	697					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						TCGGAAGGCCTTGCTTTTTTG	0.343													33	54					0	0	1	0	0	C	112596041	T	C	112596041	3	2	512	1	0	0	0	0	1	0	0	0	594	1608	56	3	3869	3	ANAPC1	2	112596041	Missense_Mutation	SNP	T	TCGA-WY-A85D-01A-11D-A36O-08	50146080	112596041	130603332	8	38373											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-WY-A85D-01A-11D-A36O-08	TCGA-WY-A85D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	577d0588-d7bf-4c36-bedf-48df83824fc0	4accff73-f2d9-4a7f-ac9f-54c1f1e62555	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								38	54					0	0	1	0	0	T	209113112	C	T	209113112	3	4	512	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-WY-A85D-01A-11D-A36O-08	96517071	209113112	34086261	9	38374											
LGI2	55203	broad.mit.edu	37	4	25005383	25005383	+	Missense_Mutation	SNP	G	G	C			TCGA-WY-A85D-01A-11D-A36O-08	TCGA-WY-A85D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	577d0588-d7bf-4c36-bedf-48df83824fc0	4accff73-f2d9-4a7f-ac9f-54c1f1e62555	g.chr4:25005383G>C	ENST00000382114.4	-	8	1513	c.1328C>G	c.(1327-1329)tCc>tGc	p.S443C		NM_018176.3	NP_060646.2	Q8N0V4	LGI2_HUMAN	leucine-rich repeat LGI family, member 2	443						extracellular region				breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(2)	33		Breast(46;0.173)				CATGACCCGGGAGTCCCCGAT	0.532													111	157					0	0	1	0	0	C	25005383	G	C	25005383	3	2	512	1	0	0	0	0	1	0	0	0	8792	1174	41	5	313	5	LGI2	4	25005383	Missense_Mutation	SNP	G	TCGA-WY-A85D-01A-11D-A36O-08		25005383	166148893	10	38375											
EIF4E	1977	broad.mit.edu	37	4	99812468	99812468	+	Missense_Mutation	SNP	A	A	C			TCGA-WY-A85D-01A-11D-A36O-08	TCGA-WY-A85D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	577d0588-d7bf-4c36-bedf-48df83824fc0	4accff73-f2d9-4a7f-ac9f-54c1f1e62555	g.chr4:99812468A>C	ENST00000450253.2	-	3	1665	c.141T>G	c.(139-141)ttT>ttG	p.F47L	EIF4E_ENST00000505992.1_Missense_Mutation_p.F47L|EIF4E_ENST00000504432.1_Missense_Mutation_p.F75L|EIF4E_ENST00000280892.6_Missense_Mutation_p.F67L	NM_001968.3	NP_001959.1	P06730	IF4E_HUMAN	eukaryotic translation initiation factor 4E	47					G1/S transition of mitotic cell cycle|insulin receptor signaling pathway|interspecies interaction between organisms|mRNA export from nucleus|nuclear-transcribed mRNA poly(A) tail shortening|positive regulation of mitotic cell cycle|regulation of translation	cytoplasmic mRNA processing body|cytosol|eukaryotic translation initiation factor 4F complex|mRNA cap binding complex|RNA-induced silencing complex	protein binding|RNA cap binding|translation initiation factor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)	13				OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)|LUSC - Lung squamous cell carcinoma(721;0.00227)		CATTTTTAAAAAACCAgagtg	0.343													30	33					0	0	1	0	0	C	99812468	A	C	99812468	3	2	512	1	0	0	0	0	1	0	0	0	5056	11	1	5	629	5	EIF4E	4	99812468	Missense_Mutation	SNP	A	TCGA-WY-A85D-01A-11D-A36O-08	74807085	99812468	91341808	11	38376											
FSTL5	56884	broad.mit.edu	37	4	162402315	162402315	+	Missense_Mutation	SNP	C	C	T			TCGA-WY-A85D-01A-11D-A36O-08	TCGA-WY-A85D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	577d0588-d7bf-4c36-bedf-48df83824fc0	4accff73-f2d9-4a7f-ac9f-54c1f1e62555	g.chr4:162402315C>T	ENST00000306100.5	-	13	1901	c.1465G>A	c.(1465-1467)Gtc>Atc	p.V489I	FSTL5_ENST00000427802.2_Missense_Mutation_p.V479I|FSTL5_ENST00000536695.1_Missense_Mutation_p.V488I|FSTL5_ENST00000379164.4_Missense_Mutation_p.V488I	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	489						extracellular region	calcium ion binding			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		TTGGGACAGACTTCATCCTGT	0.358													59	100					0	0	1	0	0	T	162402315	C	T	162402315	3	4	512	1	0	0	0	0	1	0	0	0	6115	565	20	2	1094	2	FSTL5	4	162402315	Missense_Mutation	SNP	C	TCGA-WY-A85D-01A-11D-A36O-08	62589847	162402315	28751961	12	38377											
TTC37	9652	broad.mit.edu	37	5	94805499	94805499	+	Missense_Mutation	SNP	C	C	T			TCGA-WY-A85D-01A-11D-A36O-08	TCGA-WY-A85D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	577d0588-d7bf-4c36-bedf-48df83824fc0	4accff73-f2d9-4a7f-ac9f-54c1f1e62555	g.chr5:94805499C>T	ENST00000358746.2	-	41	4779	c.4481G>A	c.(4480-4482)cGc>cAc	p.R1494H		NM_014639.3	NP_055454.1	Q6PGP7	TTC37_HUMAN	tetratricopeptide repeat domain 37	1494							binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	47						CCCCATTTTGCGTTTGAATTG	0.363													32	73					0	0	1	0	0	T	94805499	C	T	94805499	3	4	512	1	0	0	0	0	1	0	0	0	16767	768	27	1	225	1	TTC37	5	94805499	Missense_Mutation	SNP	C	TCGA-WY-A85D-01A-11D-A36O-08		94805499	86109761	13	38378											
DLK2	65989	broad.mit.edu	37	6	43418746	43418746	+	Missense_Mutation	SNP	C	C	T			TCGA-WY-A85D-01A-11D-A36O-08	TCGA-WY-A85D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	577d0588-d7bf-4c36-bedf-48df83824fc0	4accff73-f2d9-4a7f-ac9f-54c1f1e62555	g.chr6:43418746C>T	ENST00000357338.3	-	6	1383	c.683G>A	c.(682-684)cGg>cAg	p.R228Q	DLK2_ENST00000414245.1_Missense_Mutation_p.R222Q|DLK2_ENST00000372488.3_Missense_Mutation_p.R228Q|DLK2_ENST00000372485.1_Missense_Mutation_p.R222Q	NM_206539.1	NP_996262.1	Q6UY11	DLK2_HUMAN	delta-like 2 homolog (Drosophila)	228	EGF-like 6; calcium-binding (Potential).					integral to membrane	calcium ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	7	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			GACACGGTCCCGACAGCGGGC	0.627													31	68					0	0	1	0	0	T	43418746	C	T	43418746	3	4	512	1	0	0	0	0	1	0	0	0	4593	652	23	1	472	1	DLK2	6	43418746	Missense_Mutation	SNP	C	TCGA-WY-A85D-01A-11D-A36O-08		43418746	127696321	14	38379											
GRIK2	2898	broad.mit.edu	37	6	101847197	101847197	+	Missense_Mutation	SNP	G	G	A			TCGA-WY-A85D-01A-11D-A36O-08	TCGA-WY-A85D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	577d0588-d7bf-4c36-bedf-48df83824fc0	4accff73-f2d9-4a7f-ac9f-54c1f1e62555	g.chr6:101847197G>A	ENST00000369138.1	+	1	534	c.44G>A	c.(43-45)cGc>cAc	p.R15H	GRIK2_ENST00000358361.3_Missense_Mutation_p.R15H|GRIK2_ENST00000421544.1_Missense_Mutation_p.R15H|GRIK2_ENST00000318991.6_Missense_Mutation_p.R15H|GRIK2_ENST00000413795.1_Missense_Mutation_p.R15H|GRIK2_ENST00000369137.3_Missense_Mutation_p.R15H	NM_001166247.1	NP_001159719.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	15					glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	L-Glutamic Acid(DB00142)	GTCTTCAGGCGCACCGTTAAA	0.473													4	244					0	0	1	0	0	A	101847197	G	A	101847197	3	1	512	1	0	0	0	0	1	0	0	0	6815	1087	38	1	46	1	GRIK2	6	101847197	Missense_Mutation	SNP	G	TCGA-WY-A85D-01A-11D-A36O-08	58428451	101847197	69267870	15	38380											
TRAF3IP2	10758	broad.mit.edu	37	6	111912849	111912849	+	Silent	SNP	C	C	T			TCGA-WY-A85D-01A-11D-A36O-08	TCGA-WY-A85D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	577d0588-d7bf-4c36-bedf-48df83824fc0	4accff73-f2d9-4a7f-ac9f-54c1f1e62555	g.chr6:111912849C>T	ENST00000368761.5	-	2	919	c.441G>A	c.(439-441)gcG>gcA	p.A147A	TRAF3IP2_ENST00000340026.6_Silent_p.A156A|TRAF3IP2-AS1_ENST00000532353.1_RNA|TRAF3IP2_ENST00000392556.4_5'UTR|TRAF3IP2_ENST00000359831.4_Silent_p.A147A	NM_001164281.2|NM_147686.3	NP_001157753.1|NP_679211.2	O43734	CIKS_HUMAN	TRAF3 interacting protein 2	156					intracellular signal transduction|positive regulation of I-kappaB kinase/NF-kappaB cascade	intracellular				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	18		all_cancers(87;7.87e-06)|Acute lymphoblastic leukemia(125;3.61e-09)|all_hematologic(75;2.63e-07)|all_epithelial(87;0.0024)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.033)|all cancers(137;0.0412)|Epithelial(106;0.0732)		CAGGAGAAGCCGCTGAAAGCT	0.522													8	88					0	0	1	0	0	T	111912849	C	T	111912849	2	4	512	1	0	0	0	0	0	0	0	1	16502	639	23	1		1	TRAF3IP2	6	111912849	Silent	SNP	C	TCGA-WY-A85D-01A-11D-A36O-08	10065652	111912849	59202218	16	38381											
GOPC	57120	broad.mit.edu	37	6	117894644	117894644	+	Missense_Mutation	SNP	C	C	T			TCGA-WY-A85D-01A-11D-A36O-08	TCGA-WY-A85D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	577d0588-d7bf-4c36-bedf-48df83824fc0	4accff73-f2d9-4a7f-ac9f-54c1f1e62555	g.chr6:117894644C>T	ENST00000535237.1	-	5	1031	c.802G>A	c.(802-804)Gca>Aca	p.A268T	GOPC_ENST00000052569.6_Missense_Mutation_p.A260T|GOPC_ENST00000467125.1_5'UTR|GOPC_ENST00000368498.2_Missense_Mutation_p.A268T					golgi-associated PDZ and coiled-coil motif containing										GOPC/ROS1(14)	endometrium(1)|large_intestine(3)|lung(4)|ovary(1)	9		all_cancers(87;0.00844)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0363)|OV - Ovarian serous cystadenocarcinoma(136;0.0821)|all cancers(137;0.0976)		CCTGGTGGTGCTTGCATTGGT	0.433			O	ROS1	glioblastoma								4	122					0	0	1	0	0	T	117894644	C	T	117894644	3	4	512	1	0	0	0	0	1	0	0	0	6612	797	28	2	606	2	GOPC	6	117894644	Missense_Mutation	SNP	C	TCGA-WY-A85D-01A-11D-A36O-08	5981795	117894644	53220423	17	38382											
LATS1	9113	broad.mit.edu	37	6	150005421	150005421	+	Nonsense_Mutation	SNP	C	C	T			TCGA-WY-A85D-01A-11D-A36O-08	TCGA-WY-A85D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	577d0588-d7bf-4c36-bedf-48df83824fc0	4accff73-f2d9-4a7f-ac9f-54c1f1e62555	g.chr6:150005421C>T	ENST00000543571.1	-	4	1351	c.804G>A	c.(802-804)tgG>tgA	p.W268*	LATS1_ENST00000542747.1_5'UTR|LATS1_ENST00000253339.5_Nonsense_Mutation_p.W268*|LATS1_ENST00000392273.3_Nonsense_Mutation_p.W268*	NM_004690.3	NP_004681.1	O95835	LATS1_HUMAN	large tumor suppressor kinase 1	268					cell division|cytoplasmic sequestering of protein|G2/M transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|positive regulation of peptidyl-serine phosphorylation|regulation of actin filament polymerization|sister chromatid segregation	microtubule organizing center|spindle pole	ATP binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity			central_nervous_system(1)|lung(5)	6		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)		AGTTTGGTTCCCATGAAGGGG	0.547													70	98					0	0	1	0	0	T	150005421	C	T	150005421	4	4	512	1	0	0	0	0	0	1	0	0	8685	624	22	2	2608	2	LATS1	6	150005421	Nonsense_Mutation	SNP	C	TCGA-WY-A85D-01A-11D-A36O-08	32110777	150005421	21109646	18	38383											
ABCB5	340273	broad.mit.edu	37	7	20766690	20766690	+	Missense_Mutation	SNP	C	C	T			TCGA-WY-A85D-01A-11D-A36O-08	TCGA-WY-A85D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	577d0588-d7bf-4c36-bedf-48df83824fc0	4accff73-f2d9-4a7f-ac9f-54c1f1e62555	g.chr7:20766690C>T	ENST00000404938.2	+	22	3305	c.2653C>T	c.(2653-2655)Cgt>Tgt	p.R885C	ABCB5_ENST00000258738.6_Missense_Mutation_p.R440C	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	440					regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						GGAGAATATACGTACTATAGT	0.323													5	49					0	0	1	0	0	T	20766690	C	T	20766690	3	4	512	1	0	0	0	0	1	0	0	0	44	536	19	1	2776	1	ABCB5	7	20766690	Missense_Mutation	SNP	C	TCGA-WY-A85D-01A-11D-A36O-08		20766690	138371973	19	38384											
VPS13A	23230	broad.mit.edu	37	9	79959998	79959998	+	Missense_Mutation	SNP	G	G	C			TCGA-WY-A85D-01A-11D-A36O-08	TCGA-WY-A85D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	577d0588-d7bf-4c36-bedf-48df83824fc0	4accff73-f2d9-4a7f-ac9f-54c1f1e62555	g.chr9:79959998G>C	ENST00000360280.3	+	52	7489	c.7229G>C	c.(7228-7230)gGa>gCa	p.G2410A	VPS13A_ENST00000376634.4_Missense_Mutation_p.G2410A|VPS13A_ENST00000357409.5_Missense_Mutation_p.G2410A|VPS13A_ENST00000376636.3_Missense_Mutation_p.G2371A	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	2410					Golgi to endosome transport|protein transport	intracellular	protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						TATCATGATGGAGCAGCTACA	0.318													15	108					0	0	1	0	0	C	79959998	G	C	79959998	3	2	512	1	0	0	0	0	1	0	0	0	17249	1174	41	5	7435	5	VPS13A	9	79959998	Missense_Mutation	SNP	G	TCGA-WY-A85D-01A-11D-A36O-08		79959998	61253433	20	38385											
GATA3	2625	broad.mit.edu	37	10	8115720	8115720	+	Missense_Mutation	SNP	A	A	G			TCGA-WY-A85D-01A-11D-A36O-08	TCGA-WY-A85D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	577d0588-d7bf-4c36-bedf-48df83824fc0	4accff73-f2d9-4a7f-ac9f-54c1f1e62555	g.chr10:8115720A>G	ENST00000379328.3	+	6	1637	c.1069A>G	c.(1069-1071)Atg>Gtg	p.M357V	GATA3_ENST00000346208.3_Missense_Mutation_p.M356V|GATA3_ENST00000461472.1_3'UTR	NM_001002295.1|NM_002051.2	NP_001002295.1|NP_002042.1	P23771	GATA3_HUMAN	GATA binding protein 3	356					aortic valve morphogenesis|blood coagulation|canonical Wnt receptor signaling pathway involved in metanephric kidney development|cardiac right ventricle morphogenesis|cell fate determination|cellular response to interferon-alpha|cellular response to interleukin-4|cellular response to tumor necrosis factor|defense response|ear development|lymphocyte migration|male gonad development|mesenchymal to epithelial transition|mesonephros development|negative regulation of cell cycle|negative regulation of cell motility|negative regulation of cell proliferation involved in mesonephros development|negative regulation of endothelial cell apoptosis|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation|negative regulation of inflammatory response|negative regulation of mammary gland epithelial cell proliferation|nephric duct formation|norepinephrine biosynthetic process|pharyngeal system development|phosphatidylinositol 3-kinase cascade|positive regulation of endothelial cell migration|positive regulation of interleukin-13 secretion|positive regulation of interleukin-4 production|positive regulation of interleukin-5 secretion|positive regulation of protein kinase B signaling cascade|positive regulation of T cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of ureteric bud formation|regulation of cellular response to X-ray|regulation of cytokine biosynthetic process|regulation of nephron tubule epithelial cell differentiation|response to estrogen stimulus|response to virus|sympathetic nervous system development|T cell receptor signaling pathway|TOR signaling cascade|ureteric bud formation|uterus development|ventricular septum development	nuclear chromatin|nucleolus|nucleoplasm	core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|E-box binding|HMG box domain binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription coactivator activity|transcription factor binding|zinc ion binding	p.M357fs*14(1)		NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2)	87						ACCCCTGACTATGAAGAAGGA	0.403			"F, N, S"		breast		"HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"						8	35					0	0	1	0	0	G	8115720	A	G	8115720	3	3	512	1	0	0	0	0	1	0	0	0	6295	449	16	3	1087	3	GATA3	10	8115720	Missense_Mutation	SNP	A	TCGA-WY-A85D-01A-11D-A36O-08		8115720	127419027	21	38386											
OR4P4	81300	broad.mit.edu	37	11	55405900	55405900	+	Missense_Mutation	SNP	G	G	A			TCGA-WY-A85D-01A-11D-A36O-08	TCGA-WY-A85D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	577d0588-d7bf-4c36-bedf-48df83824fc0	4accff73-f2d9-4a7f-ac9f-54c1f1e62555	g.chr11:55405900G>A	ENST00000314612.2	+	1	67	c.67G>A	c.(67-69)Gtc>Atc	p.V23I		NM_001004124.1	NP_001004124.1	Q8NGL7	OR4P4_HUMAN	olfactory receptor, family 4, subfamily P, member 4	23					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1)	40						GAACATTGAAGTCCTCTGCTT	0.363													56	100					0	0	1	0	0	A	55405900	G	A	55405900	3	1	512	1	0	0	0	0	1	0	0	0	11128	1029	36	2	69	2	OR4P4	11	55405900	Missense_Mutation	SNP	G	TCGA-WY-A85D-01A-11D-A36O-08		55405900	79600616	22	38387											
OR8K3	219473	broad.mit.edu	37	11	56086694	56086694	+	Missense_Mutation	SNP	G	G	C			TCGA-WY-A85D-01A-11D-A36O-08	TCGA-WY-A85D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	577d0588-d7bf-4c36-bedf-48df83824fc0	4accff73-f2d9-4a7f-ac9f-54c1f1e62555	g.chr11:56086694G>C	ENST00000312711.1	+	1	912	c.912G>C	c.(910-912)tgG>tgC	p.W304C		NM_001005202.1	NP_001005202.1	Q8NH51	OR8K3_HUMAN	olfactory receptor, family 8, subfamily K, member 3	304					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|ovary(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	40	Esophageal squamous(21;0.00448)					GAAGGACATGGAATAACTTAT	0.328													16	39					0	0	1	0	0	C	56086694	G	C	56086694	3	2	512	1	0	0	0	0	1	0	0	0	11291	1183	41	5	914	5	OR8K3	11	56086694	Missense_Mutation	SNP	G	TCGA-WY-A85D-01A-11D-A36O-08	680794	56086694	78919822	23	38388											
GLYAT	10249	broad.mit.edu	37	11	58480360	58480360	+	Splice_Site	SNP	C	C	A			TCGA-WY-A85D-01A-11D-A36O-08	TCGA-WY-A85D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	577d0588-d7bf-4c36-bedf-48df83824fc0	4accff73-f2d9-4a7f-ac9f-54c1f1e62555	g.chr11:58480360C>A	ENST00000344743.3	-	4	331		c.e4-1		GLYAT_ENST00000529732.1_Splice_Site|GLYAT_ENST00000278400.3_Splice_Site	NM_201648.2	NP_964011.2	Q6IB77	GLYAT_HUMAN	glycine-N-acyltransferase						acyl-CoA metabolic process|response to toxin|xenobiotic metabolic process	mitochondrial matrix	glycine N-acyltransferase activity|glycine N-benzoyltransferase activity			NS(1)|autonomic_ganglia(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16		Breast(21;0.0044)|all_epithelial(135;0.0157)			Glycine(DB00145)	CTGTCATATCCTGTTATCATT	0.303													13	54					5.50884e-06	5.75924e-06	1	1	0	A	58480360	C	A	58480360	5	1	512	1	0	0	0	0	0	0	1	0	6521	695	24	4	717	4	GLYAT	11	58480360	Splice_Site	SNP	C	TCGA-WY-A85D-01A-11D-A36O-08	2393666	58480360	76526156	24	38389											
TMPO	7112	broad.mit.edu	37	12	98927085	98927085	+	Silent	SNP	A	A	G	rs147812883	byFrequency	TCGA-WY-A85D-01A-11D-A36O-08	TCGA-WY-A85D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	577d0588-d7bf-4c36-bedf-48df83824fc0	4accff73-f2d9-4a7f-ac9f-54c1f1e62555	g.chr12:98927085A>G	ENST00000266732.4	+	4	1288	c.1050A>G	c.(1048-1050)caA>caG	p.Q350Q	TMPO_ENST00000343315.5_Intron|TMPO_ENST00000393053.2_Intron|TMPO_ENST00000261210.5_Intron|TMPO_ENST00000556029.1_Intron	NM_003276.2	NP_003267.1	P42167	LAP2B_HUMAN	thymopoietin	256	Binds lamins B.|NAKAP95-binding C.|Nucleoplasmic (Potential).					integral to membrane|nuclear inner membrane	DNA binding|lamin binding			breast(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						TTTCAGATCAATCGCCTCTCT	0.418													6	87					0	0	1	0	0	G	98927085	A	G	98927085	2	3	512	1	0	0	0	0	0	0	0	1	16297	98	4	3		3	TMPO	12	98927085	Silent	SNP	A	TCGA-WY-A85D-01A-11D-A36O-08		98927085	34924810	25	38390											
DDX54	79039	broad.mit.edu	37	12	113599733	113599733	+	Silent	SNP	G	G	A			TCGA-WY-A85D-01A-11D-A36O-08	TCGA-WY-A85D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	577d0588-d7bf-4c36-bedf-48df83824fc0	4accff73-f2d9-4a7f-ac9f-54c1f1e62555	g.chr12:113599733G>A	ENST00000314045.7	-	18	2292	c.2265C>T	c.(2263-2265)agC>agT	p.S755S	DDX54_ENST00000306014.5_Silent_p.S755S	NM_001111322.1	NP_001104792.1	Q8TDD1	DDX54_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 54	755					estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nucleolus	ATP binding|ATP-dependent RNA helicase activity|estrogen receptor binding|RNA binding|transcription corepressor activity	p.S755R(1)		breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						TGTAGCGGCCGCTCTCTGTCT	0.592													4	219					0	0	1	0	0	A	113599733	G	A	113599733	2	1	512	1	0	0	0	0	0	0	0	1	4395	1078	38	1		1	DDX54	12	113599733	Silent	SNP	G	TCGA-WY-A85D-01A-11D-A36O-08	14672648	113599733	20252162	26	38391											
LHX5	64211	broad.mit.edu	37	12	113901233	113901233	+	Frame_Shift_Del	DEL	C	C	-			TCGA-WY-A85D-01A-11D-A36O-08	TCGA-WY-A85D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	577d0588-d7bf-4c36-bedf-48df83824fc0	4accff73-f2d9-4a7f-ac9f-54c1f1e62555	g.chr12:113901233delC	ENST00000261731.3	-	5	1544	c.971delG	c.(970-972)ggafs	p.G324fs		NM_022363.2	NP_071758.1	Q9H2C1	LHX5_HUMAN	LIM homeobox 5	324						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	10						TTCCAGCGCTCCCAGCGGCGT	0.731													2	4	---	---	---	---						-	113901233	C	-	113901233	7	5	512	1	0	1	0	1	0	0	0	0	8814	855	30	0	241	0	LHX5	12	113901233	Frame_Shift_Del	DEL	C	TCGA-WY-A85D-01A-11D-A36O-08	301500	113901233	19950662	27	38392											
POLE	5426	broad.mit.edu	37	12	133220429	133220429	+	Missense_Mutation	SNP	C	C	G			TCGA-WY-A85D-01A-11D-A36O-08	TCGA-WY-A85D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	577d0588-d7bf-4c36-bedf-48df83824fc0	4accff73-f2d9-4a7f-ac9f-54c1f1e62555	g.chr12:133220429C>G	ENST00000320574.5	-	33	4327	c.4284G>C	c.(4282-4284)gaG>gaC	p.E1428D	POLE_ENST00000535270.1_Missense_Mutation_p.E1401D	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	1428					base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		TCACCTGAGTCTCATATACGC	0.567								DNA polymerases (catalytic subunits)					13	49					0	0	1	0	0	G	133220429	C	G	133220429	3	3	512	1	0	0	0	0	1	0	0	0	12244	912	32	4	2644	4	POLE	12	133220429	Missense_Mutation	SNP	C	TCGA-WY-A85D-01A-11D-A36O-08	19319196	133220429	631466	28	38393											
SYNE2	23224	broad.mit.edu	37	14	64656884	64656884	+	Silent	SNP	A	A	T			TCGA-WY-A85D-01A-11D-A36O-08	TCGA-WY-A85D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	577d0588-d7bf-4c36-bedf-48df83824fc0	4accff73-f2d9-4a7f-ac9f-54c1f1e62555	g.chr14:64656884A>T	ENST00000357395.3	+	100	18266	c.7122A>T	c.(7120-7122)gcA>gcT	p.A2374A	ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000394768.2_Silent_p.A2374A|SYNE2_ENST00000344113.4_Silent_p.A5989A|SYNE2_ENST00000554584.1_Silent_p.A5852A|SYNE2_ENST00000555002.1_Silent_p.A2623A|SYNE2_ENST00000358025.3_Silent_p.A5989A			Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	5989					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		AATCAAGAGCAGCTGAGATCG	0.398													30	56					0	0	1	0	0	T	64656884	A	T	64656884	2	4	512	1	0	0	0	0	0	0	0	1	15503	175	7	5		5	SYNE2	14	64656884	Silent	SNP	A	TCGA-WY-A85D-01A-11D-A36O-08		64656884	42692656	29	38394											
MEIS2	4212	broad.mit.edu	37	15	37329146	37329146	+	Missense_Mutation	SNP	T	T	G			TCGA-WY-A85D-01A-11D-A36O-08	TCGA-WY-A85D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	577d0588-d7bf-4c36-bedf-48df83824fc0	4accff73-f2d9-4a7f-ac9f-54c1f1e62555	g.chr15:37329146T>G	ENST00000338564.5	-	9	1215	c.769A>C	c.(769-771)Aac>Cac	p.N257H	MEIS2_ENST00000444725.1_Missense_Mutation_p.N257H|MEIS2_ENST00000340545.5_Missense_Mutation_p.N244H|MEIS2_ENST00000219869.9_Missense_Mutation_p.N111H|MEIS2_ENST00000397624.3_Missense_Mutation_p.N169H|MEIS2_ENST00000559085.1_Missense_Mutation_p.N244H|MEIS2_ENST00000561208.1_Missense_Mutation_p.N257H|MEIS2_ENST00000382766.2_Missense_Mutation_p.N257H|MEIS2_ENST00000397620.2_Missense_Mutation_p.N169H|MEIS2_ENST00000424352.2_Missense_Mutation_p.N257H|MEIS2_ENST00000559561.1_Missense_Mutation_p.N257H|MEIS2_ENST00000557796.2_Missense_Mutation_p.N244H	NM_001220482.1	NP_001207411.1	O14770	MEIS2_HUMAN	Meis homeobox 2	257	Asp/Glu-rich (acidic).				negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	36		all_epithelial(112;9.77e-14)|Lung NSC(122;1.42e-09)|all_lung(180;2.2e-08)|Ovarian(310;0.134)|Melanoma(134;0.155)		all cancers(64;9.33e-21)|GBM - Glioblastoma multiforme(113;1.71e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0288)		GCTACACTGTTGTCTAAACCA	0.408													57	80					0	0	1	0	0	G	37329146	T	G	37329146	3	3	512	1	0	0	0	0	1	0	0	0	9518	1812	63	5	747	5	MEIS2	15	37329146	Missense_Mutation	SNP	T	TCGA-WY-A85D-01A-11D-A36O-08		37329146	65202246	30	38395											
PRSS21	10942	broad.mit.edu	37	16	2871093	2871093	+	Missense_Mutation	SNP	G	G	A			TCGA-WY-A85D-01A-11D-A36O-08	TCGA-WY-A85D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	577d0588-d7bf-4c36-bedf-48df83824fc0	4accff73-f2d9-4a7f-ac9f-54c1f1e62555	g.chr16:2871093G>A	ENST00000455114.1	+	5	788	c.682G>A	c.(682-684)Ggg>Agg	p.G228R	PRSS21_ENST00000450020.3_Intron|PRSS21_ENST00000575739.1_Intron|PRSS21_ENST00000005995.3_Missense_Mutation_p.G230R	NM_001270452.1|NM_006799.3|NM_144956.2	NP_001257381.1|NP_006790.1|NP_659205.1	Q9Y6M0	TEST_HUMAN	protease, serine, 21 (testisin)	230	Peptidase S1.				proteolysis	anchored to membrane|cytoplasm|membrane fraction|plasma membrane	serine-type endopeptidase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|skin(2)	15						TGCCCAAGGCGGGAAGGATGC	0.542													88	142					0	0	1	0	0	A	2871093	G	A	2871093	3	1	512	1	0	0	0	0	1	0	0	0	12667	1116	39	1	706	1	PRSS21	16	2871093	Missense_Mutation	SNP	G	TCGA-WY-A85D-01A-11D-A36O-08		2871093	87483660	31	38396											
CDH16	1014	broad.mit.edu	37	16	66945164	66945164	+	Silent	SNP	C	C	T			TCGA-WY-A85D-01A-11D-A36O-08	TCGA-WY-A85D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	577d0588-d7bf-4c36-bedf-48df83824fc0	4accff73-f2d9-4a7f-ac9f-54c1f1e62555	g.chr16:66945164C>T	ENST00000299752.4	-	14	2038	c.1845G>A	c.(1843-1845)ggG>ggA	p.G615G	CDH16_ENST00000565796.1_Silent_p.G615G|CDH16_ENST00000570262.1_Silent_p.G535G|CDH16_ENST00000394055.3_Silent_p.G615G|CDH16_ENST00000568632.1_Silent_p.G518G	NM_001204744.1|NM_001204745.1|NM_004062.3	NP_001191673.1|NP_001191674.1|NP_004053.1	O75309	CAD16_HUMAN	cadherin 16, KSP-cadherin	615	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)		TGTGCACCTCCCCGGAGAATT	0.602													12	15					0	0	1	0	0	T	66945164	C	T	66945164	2	4	512	1	0	0	0	0	0	0	0	1	3123	610	22	2		2	CDH16	16	66945164	Silent	SNP	C	TCGA-WY-A85D-01A-11D-A36O-08	64074071	66945164	23409589	32	38397											
CNTNAP4	85445	broad.mit.edu	37	16	76389360	76389360	+	Silent	SNP	T	T	C			TCGA-WY-A85D-01A-11D-A36O-08	TCGA-WY-A85D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	577d0588-d7bf-4c36-bedf-48df83824fc0	4accff73-f2d9-4a7f-ac9f-54c1f1e62555	g.chr16:76389360T>C	ENST00000307431.8	+	4	724	c.339T>C	c.(337-339)agT>agC	p.S113S	CNTNAP4_ENST00000476707.1_Silent_p.S117S|CNTNAP4_ENST00000377504.4_Silent_p.S113S|CNTNAP4_ENST00000478060.1_Silent_p.S89S|CNTNAP4_ENST00000469589.1_3'UTR	NM_033401.3	NP_207837.2	Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	114	F5/8 type C.				cell adhesion|signal transduction	integral to membrane	receptor binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						TGATGTTCAGTGATAGTGGCT	0.478													46	67					0	0	1	0	0	C	76389360	T	C	76389360	2	2	512	1	0	0	0	0	0	0	0	1	3672	1693	59	3		3	CNTNAP4	16	76389360	Silent	SNP	T	TCGA-WY-A85D-01A-11D-A36O-08	9444196	76389360	13965393	33	38398											
TP53	7157	broad.mit.edu	37	17	7577108	7577108	+	Missense_Mutation	SNP	C	C	T			TCGA-WY-A85D-01A-11D-A36O-08	TCGA-WY-A85D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	577d0588-d7bf-4c36-bedf-48df83824fc0	4accff73-f2d9-4a7f-ac9f-54c1f1e62555	g.chr17:7577108C>T	ENST00000420246.2	-	8	962	c.830G>A	c.(829-831)tGt>tAt	p.C277Y	TP53_ENST00000269305.4_Missense_Mutation_p.C277Y|TP53_ENST00000455263.2_Missense_Mutation_p.C277Y|TP53_ENST00000359597.4_Missense_Mutation_p.C277Y|TP53_ENST00000445888.2_Missense_Mutation_p.C277Y|TP53_ENST00000413465.2_Intron	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	277	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in an osteosarcoma with no family history; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.C277F(24)|p.C277Y(15)|p.0?(8)|p.?(2)|p.A276_R283delACPGRDRR(1)|p.C275fs*20(1)|p.A276fs*64(1)|p.L265_K305del41(1)|p.A276_C277delAC(1)|p.F270_D281del12(1)|p.V274_P278del(1)|p.S269fs*21(1)|p.C275fs*67(1)|p.C277S(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(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)		TCTCCCAGGACAGGCACAAAC	0.547		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)			12	14					0	0	1	0	0	T	7577108	C	T	7577108	3	4	512	1	0	0	0	0	1	0	0	0	16442	478	17	2	456	2	TP53	17	7577108	Missense_Mutation	SNP	C	TCGA-WY-A85D-01A-11D-A36O-08		7577108	73618102	34	38399											
TP53	7157	broad.mit.edu	37	17	7578508	7578508	+	Missense_Mutation	SNP	C	C	T			TCGA-WY-A85D-01A-11D-A36O-08	TCGA-WY-A85D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	577d0588-d7bf-4c36-bedf-48df83824fc0	4accff73-f2d9-4a7f-ac9f-54c1f1e62555	g.chr17:7578508C>T	ENST00000420246.2	-	5	554	c.422G>A	c.(421-423)tGc>tAc	p.C141Y	TP53_ENST00000269305.4_Missense_Mutation_p.C141Y|TP53_ENST00000455263.2_Missense_Mutation_p.C141Y|TP53_ENST00000359597.4_Missense_Mutation_p.C141Y|TP53_ENST00000445888.2_Missense_Mutation_p.C141Y|TP53_ENST00000413465.2_Missense_Mutation_p.C141Y	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	141	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		C -> A (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.C141Y(79)|p.0?(8)|p.C9Y(5)|p.C48Y(5)|p.A138_P142delAKTCP(4)|p.C141F(4)|p.C141S(3)|p.N131fs*27(2)|p.C9S(1)|p.K139_C141>N(1)|p.L137_W146del10(1)|p.C141A(1)|p.A6_P10delAKTCP(1)|p.K139fs*4(1)|p.A45_P49delAKTCP(1)|p.T140fs*28(1)|p.A138_V143delAKTCPV(1)|p.C48S(1)|p.C141fs*5(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)		CTGCACAGGGCAGGTCTTGGC	0.572		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)			29	28					0	0	1	0	0	T	7578508	C	T	7578508	3	4	512	1	0	0	0	0	1	0	0	0	16442	710	25	2	876	2	TP53	17	7578508	Missense_Mutation	SNP	C	TCGA-WY-A85D-01A-11D-A36O-08	1400	7578508	73616702	35	38400											
AQP4	361	broad.mit.edu	37	18	24436242	24436242	+	Missense_Mutation	SNP	A	A	G			TCGA-WY-A85D-01A-11D-A36O-08	TCGA-WY-A85D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	577d0588-d7bf-4c36-bedf-48df83824fc0	4accff73-f2d9-4a7f-ac9f-54c1f1e62555	g.chr18:24436242A>G	ENST00000383168.4	-	5	1033	c.905T>C	c.(904-906)aTt>aCt	p.I302T	AQP4_ENST00000440832.3_Missense_Mutation_p.I280T|AQP4-AS1_ENST00000579964.1_RNA|AQP4_ENST00000581374.1_Missense_Mutation_p.I280T|AQP4-AS1_ENST00000582605.1_RNA	NM_001650.4|NM_004028.3	NP_001641.1|NP_004019.1	P55087	AQP4_HUMAN	aquaporin 4	302					cellular response to interferon-gamma|excretion|nervous system development	cytoplasm|external side of plasma membrane|integral to plasma membrane	water channel activity			kidney(2)|large_intestine(3)|lung(5)|skin(1)	11	all_cancers(21;0.0172)|Lung NSC(5;0.00299)|all_lung(6;0.00747)|Ovarian(20;0.124)					GTCAACGTCAATCACATGCAC	0.498													91	149					0	0	1	0	0	G	24436242	A	G	24436242	3	3	512	1	0	0	0	0	1	0	0	0	825	101	4	3	70	3	AQP4	18	24436242	Missense_Mutation	SNP	A	TCGA-WY-A85D-01A-11D-A36O-08		24436242	53641006	36	38401											
USHBP1	83878	broad.mit.edu	37	19	17373549	17373549	+	Missense_Mutation	SNP	T	T	C			TCGA-WY-A85D-01A-11D-A36O-08	TCGA-WY-A85D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	577d0588-d7bf-4c36-bedf-48df83824fc0	4accff73-f2d9-4a7f-ac9f-54c1f1e62555	g.chr19:17373549T>C	ENST00000252597.3	-	4	627	c.454A>G	c.(454-456)Aca>Gca	p.T152A	USHBP1_ENST00000431146.2_Missense_Mutation_p.T88A|USHBP1_ENST00000598570.1_5'UTR	NM_031941.3	NP_114147.2	Q8N6Y0	USBP1_HUMAN	Usher syndrome 1C binding protein 1	152							PDZ domain binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(10)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44						CCTTCGCTTGTGCCTTCGAAC	0.672													34	77					0	0	1	0	0	C	17373549	T	C	17373549	3	2	512	1	0	0	0	0	1	0	0	0	17097	1696	59	3	1697	3	USHBP1	19	17373549	Missense_Mutation	SNP	T	TCGA-WY-A85D-01A-11D-A36O-08		17373549	41755434	37	38402											
ZNF576	79177	broad.mit.edu	37	19	44103081	44103081	+	Missense_Mutation	SNP	G	G	A			TCGA-WY-A85D-01A-11D-A36O-08	TCGA-WY-A85D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	577d0588-d7bf-4c36-bedf-48df83824fc0	4accff73-f2d9-4a7f-ac9f-54c1f1e62555	g.chr19:44103081G>A	ENST00000336564.4	+	3	338	c.184G>A	c.(184-186)Gtg>Atg	p.V62M	SRRM5_ENST00000526798.1_Intron|SRRM5_ENST00000607544.1_Intron|ZNF576_ENST00000528387.1_Missense_Mutation_p.V62M|ZNF576_ENST00000533118.1_Missense_Mutation_p.V62M|ZNF576_ENST00000525771.1_Missense_Mutation_p.V62M|ZNF576_ENST00000529930.1_Missense_Mutation_p.V62M|ZNF576_ENST00000391965.2_Missense_Mutation_p.V62M	NM_001145347.1	NP_001138819.1	Q9H609	ZN576_HUMAN	zinc finger protein 576	62					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|prostate(1)	2		Prostate(69;0.0199)				AGCGGACTTCGTGGCCCAGAA	0.647													10	118					0	0	1	0	0	A	44103081	G	A	44103081	3	1	512	1	0	0	0	0	1	0	0	0	18065	1145	40	1	190	1	ZNF576	19	44103081	Missense_Mutation	SNP	G	TCGA-WY-A85D-01A-11D-A36O-08	26729532	44103081	15025902	38	38403											
GLTSCR2	29997	broad.mit.edu	37	19	48248903	48248903	+	Silent	SNP	G	G	T			TCGA-WY-A85D-01A-11D-A36O-08	TCGA-WY-A85D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	577d0588-d7bf-4c36-bedf-48df83824fc0	4accff73-f2d9-4a7f-ac9f-54c1f1e62555	g.chr19:48248903G>T	ENST00000246802.5	+	1	125	c.87G>T	c.(85-87)tcG>tcT	p.S29S	GLTSCR2_ENST00000598681.1_3'UTR	NM_015710.4	NP_056525.2	Q9NZM5	GSCR2_HUMAN	glioma tumor suppressor candidate region gene 2	29						nucleolus				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	15		all_cancers(25;1.47e-06)|all_lung(116;6.89e-05)|all_epithelial(76;0.000108)|Lung NSC(112;0.000117)|all_neural(266;0.0332)|Ovarian(192;0.086)		all cancers(93;0.000301)|OV - Ovarian serous cystadenocarcinoma(262;0.00031)|Epithelial(262;0.0149)|GBM - Glioblastoma multiforme(486;0.0278)		GGCCCACTTCGGTGGACCCAG	0.657													42	69					3.77016e-25	4.0647e-25	1	1	0	T	48248903	G	T	48248903	2	4	512	1	0	0	0	0	0	0	0	1	6517	1103	39	5		5	GLTSCR2	19	48248903	Silent	SNP	G	TCGA-WY-A85D-01A-11D-A36O-08	4145822	48248903	10880080	39	38404											
RCN3	57333	broad.mit.edu	37	19	50031744	50031744	+	Silent	SNP	A	A	G			TCGA-WY-A85D-01A-11D-A36O-08	TCGA-WY-A85D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	577d0588-d7bf-4c36-bedf-48df83824fc0	4accff73-f2d9-4a7f-ac9f-54c1f1e62555	g.chr19:50031744A>G	ENST00000270645.3	+	2	462	c.15A>G	c.(13-15)ccA>ccG	p.P5P		NM_020650.2	NP_065701.2	Q96D15	RCN3_HUMAN	reticulocalbin 3, EF-hand calcium binding domain	5						endoplasmic reticulum lumen	calcium ion binding|protein binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00295)|GBM - Glioblastoma multiforme(134;0.0159)		TGTGGCGACCATCAGTTCTGC	0.667													145	173					0	0	1	0	0	G	50031744	A	G	50031744	2	3	512	1	0	0	0	0	0	0	0	1	13233	204	8	3		3	RCN3	19	50031744	Silent	SNP	A	TCGA-WY-A85D-01A-11D-A36O-08	1782841	50031744	9097239	40	38405											
NLRP5	126206	broad.mit.edu	37	19	56538685	56538685	+	Silent	SNP	C	C	T			TCGA-WY-A85D-01A-11D-A36O-08	TCGA-WY-A85D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	577d0588-d7bf-4c36-bedf-48df83824fc0	4accff73-f2d9-4a7f-ac9f-54c1f1e62555	g.chr19:56538685C>T	ENST00000390649.3	+	7	1086	c.1086C>T	c.(1084-1086)gaC>gaT	p.D362D		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	362	NACHT.					mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		TCATCATTGACGGTTTCGATG	0.547													12	17					0	0	1	0	0	T	56538685	C	T	56538685	2	4	512	1	0	0	0	0	0	0	0	1	10527	535	19	1		1	NLRP5	19	56538685	Silent	SNP	C	TCGA-WY-A85D-01A-11D-A36O-08	6506941	56538685	2590298	41	38406											
SCARF2	91179	broad.mit.edu	37	22	20783912	20783912	+	Silent	SNP	G	G	A			TCGA-WY-A85D-01A-11D-A36O-08	TCGA-WY-A85D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	577d0588-d7bf-4c36-bedf-48df83824fc0	4accff73-f2d9-4a7f-ac9f-54c1f1e62555	g.chr22:20783912G>A	ENST00000405555.3	-	8	1405	c.1335C>T	c.(1333-1335)ggC>ggT	p.G445G	SCARF2_ENST00000266214.5_Silent_p.G445G	NM_182895.2	NP_878315.1	Q96GP6	SREC2_HUMAN	scavenger receptor class F, member 2	445					cell adhesion	integral to membrane	protein binding|receptor activity			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	10	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.219)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			GCGCGCCCGCGCCCATCACGC	0.677													8	76					0	0	1	0	0	A	20783912	G	A	20783912	2	1	512	1	0	0	0	0	0	0	0	1	13937	1074	38	1		1	SCARF2	22	20783912	Silent	SNP	G	TCGA-WY-A85D-01A-11D-A36O-08		20783912	30520654	42	38407											
CCDC116	164592	broad.mit.edu	37	22	21989105	21989105	+	Silent	SNP	C	C	T			TCGA-WY-A85D-01A-11D-A36O-08	TCGA-WY-A85D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	577d0588-d7bf-4c36-bedf-48df83824fc0	4accff73-f2d9-4a7f-ac9f-54c1f1e62555	g.chr22:21989105C>T	ENST00000292779.3	+	4	914	c.753C>T	c.(751-753)ggC>ggT	p.G251G	CCDC116_ENST00000607942.1_Silent_p.G251G	NM_152612.2	NP_689825.2	Q8IYX3	CC116_HUMAN	coiled-coil domain containing 116	251										endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(5)	22	Colorectal(54;0.105)					CAAGCTCTGGCGTGCCTGAAG	0.572													4	176					0	0	1	0	0	T	21989105	C	T	21989105	2	4	512	1	0	0	0	0	0	0	0	1	2771	755	27	1		1	CCDC116	22	21989105	Silent	SNP	C	TCGA-WY-A85D-01A-11D-A36O-08	1205193	21989105	29315461	43	38408											
NAP1L2	4674	broad.mit.edu	37	X	72433664	72433666	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-WY-A85D-01A-11D-A36O-08	TCGA-WY-A85D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	577d0588-d7bf-4c36-bedf-48df83824fc0	4accff73-f2d9-4a7f-ac9f-54c1f1e62555	g.chrX:72433664_72433666delTCC	ENST00000373517.3	-	1	1018_1020	c.663_665delGGA	c.(661-666)gaggac>gac	p.E221del	NAP1L2_ENST00000536638.1_In_Frame_Del_p.E79del	NM_021963.3	NP_068798.1	Q9ULW6	NP1L2_HUMAN	nucleosome assembly protein 1-like 2	221	Glu-rich (acidic).				nucleosome assembly	chromatin assembly complex				NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3)	29	Renal(35;0.156)					CTCAATGTCGtcctcctcctcct	0.424													7	41	---	---	---	---						-	72433666	TCC	-	72433664	7	5	512	1	0	1	0	1	0	0	0	0	10205	1667	58	0	721	0	NAP1L2	23	72433664	In_Frame_Del	DEL	TCC	TCGA-WY-A85D-01A-11D-A36O-08		72433664	82836896	44	38409											
ATRX	546	broad.mit.edu	37	X	76814253	76814253	+	Nonsense_Mutation	SNP	G	G	A			TCGA-WY-A85D-01A-11D-A36O-08	TCGA-WY-A85D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	577d0588-d7bf-4c36-bedf-48df83824fc0	4accff73-f2d9-4a7f-ac9f-54c1f1e62555	g.chrX:76814253G>A	ENST00000373344.5	-	29	6605	c.6391C>T	c.(6391-6393)Cga>Tga	p.R2131*	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Nonsense_Mutation_p.R2093*	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	2131	Helicase C-terminal.		R -> Q (in MRXSHF1; originally reported as Juberg-Marsidi syndrome).		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)	ATAATTACTCGATTAGCAGCT	0.328			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						82	15					0	0	1	0	0	A	76814253	G	A	76814253	4	1	512	1	0	0	0	0	0	1	0	0	1206	1066	37	1	1115	1	ATRX	23	76814253	Nonsense_Mutation	SNP	G	TCGA-WY-A85D-01A-11D-A36O-08	4380589	76814253	78456307	45	38410											
PIK3CD	5293	broad.mit.edu	37	1	9783245	9783245	+	Missense_Mutation	SNP	G	G	A			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr1:9783245G>A	ENST00000536656.1	+	20	2769	c.2561G>A	c.(2560-2562)cGt>cAt	p.R854H	PIK3CD_ENST00000361110.2_Missense_Mutation_p.R854H|PIK3CD_ENST00000377346.4_Missense_Mutation_p.R830H			O00329	PK3CD_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta	830	PI3K/PI4K.				phosphatidylinositol-mediated signaling|protein phosphorylation	phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31	all_lung(157;0.222)	all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419)		GTGGTACTCCGTTCAGACACC	0.587													40	97					0	0	1	0	0	A	9783245	G	A	9783245	3	1	513	1	0	0	0	0	1	0	0	0	11963	1145	40	1	2559	1	PIK3CD	1	9783245	Missense_Mutation	SNP	G	TCGA-WY-A85E-01A-11D-A36O-08		9783245	239467376	1	38411											
PRDM2	7799	broad.mit.edu	37	1	14105561	14105561	+	Missense_Mutation	SNP	T	T	G			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr1:14105561T>G	ENST00000235372.7	+	8	2127	c.1271T>G	c.(1270-1272)cTa>cGa	p.L424R	PRDM2_ENST00000311066.5_Missense_Mutation_p.L424R|PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000343137.4_Missense_Mutation_p.L223R|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000413440.1_Missense_Mutation_p.L223R	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	424						Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		AGCCAAACACTACAGCCGTCA	0.522													7	55					0	0	1	0	0	G	14105561	T	G	14105561	3	3	513	1	0	0	0	0	1	0	0	0	12510	1522	53	5	1297	5	PRDM2	1	14105561	Missense_Mutation	SNP	T	TCGA-WY-A85E-01A-11D-A36O-08	4322316	14105561	235145060	2	38412											
DPYD	1806	broad.mit.edu	37	1	97547949	97547949	+	Missense_Mutation	SNP	A	A	C			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr1:97547949A>C	ENST00000370192.3	-	22	2944	c.2844T>G	c.(2842-2844)atT>atG	p.I948M		NM_000110.3	NP_000101	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	948	4Fe-4S ferredoxin-type 2.				'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	TTTCTTCATCAATCATAGCCA	0.388													6	102					0	0	1	0	0	C	97547949	A	C	97547949	3	2	513	1	0	0	0	0	1	0	0	0	4771	126	5	5	241	5	DPYD	1	97547949	Missense_Mutation	SNP	A	TCGA-WY-A85E-01A-11D-A36O-08	83442388	97547949	151702672	3	38413											
FLG	2312	broad.mit.edu	37	1	152285646	152285646	+	Silent	SNP	T	T	G			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr1:152285646T>G	ENST00000368799.1	-	3	1751	c.1716A>C	c.(1714-1716)cgA>cgC	p.R572R	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	572	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTTCCTCATTTCGTGTTTGTC	0.562									Ichthyosis				5	461					0	0	1	0	0	G	152285646	T	G	152285646	2	3	513	1	0	0	0	0	0	0	0	1	5955	1770	62	5		5	FLG	1	152285646	Silent	SNP	T	TCGA-WY-A85E-01A-11D-A36O-08	54737697	152285646	96964975	4	38414											
IL6R	3570	broad.mit.edu	37	1	154422442	154422442	+	Missense_Mutation	SNP	C	C	T			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr1:154422442C>T	ENST00000368485.3	+	8	1489	c.1052C>T	c.(1051-1053)gCg>gTg	p.A351V	IL6R_ENST00000344086.4_Missense_Mutation_p.A351V|IL6R_ENST00000507256.1_3'UTR	NM_000565.3	NP_000556.1	P08887	IL6RA_HUMAN	interleukin 6 receptor	351					acute-phase response|ciliary neurotrophic factor-mediated signaling pathway|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|endocrine pancreas development|hepatic immune response|negative regulation of collagen biosynthetic process|negative regulation of interleukin-8 production|positive regulation of activation of Janus kinase activity|positive regulation of anti-apoptosis|positive regulation of chemokine production|positive regulation of interleukin-6 production|positive regulation of leukocyte chemotaxis|positive regulation of MAPKKK cascade|positive regulation of osteoblast differentiation|positive regulation of smooth muscle cell proliferation|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of apoptosis	apical plasma membrane|basolateral plasma membrane|extracellular space|interleukin-6 receptor complex	ciliary neurotrophic factor binding|enzyme binding|protein homodimerization activity		IL6R/ATP8B2(2)	breast(2)|large_intestine(1)|ovary(3)	6	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			TCTGCAAATGCGACAAGCCTC	0.428													7	68					0	0	1	0	0	T	154422442	C	T	154422442	3	4	513	1	0	0	0	0	1	0	0	0	7746	768	27	1	1082	1	IL6R	1	154422442	Missense_Mutation	SNP	C	TCGA-WY-A85E-01A-11D-A36O-08	2136796	154422442	94828179	5	38415											
ASH1L	55870	broad.mit.edu	37	1	155317506	155317506	+	Missense_Mutation	SNP	G	G	A			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr1:155317506G>A	ENST00000368346.3	-	20	8398	c.7759C>T	c.(7759-7761)Cgc>Tgc	p.R2587C	ASH1L_ENST00000392403.3_Missense_Mutation_p.R2582C			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	2587					cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			CAGATACAGCGAATAACATCG	0.488													6	91					0	0	1	0	0	A	155317506	G	A	155317506	3	1	513	1	0	0	0	0	1	0	0	0	1040	1058	37	1	1186	1	ASH1L	1	155317506	Missense_Mutation	SNP	G	TCGA-WY-A85E-01A-11D-A36O-08	895064	155317506	93933115	6	38416											
FCGR2A	2212	broad.mit.edu	37	1	161479832	161479832	+	Missense_Mutation	SNP	T	T	A	rs141094947		TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr1:161479832T>A	ENST00000271450.6	+	4	625	c.587T>A	c.(586-588)tTc>tAc	p.F196Y	FCGR2A_ENST00000367972.4_Missense_Mutation_p.F195Y	NM_001136219.1|NM_021642.3	NP_001129691.1|NP_067674.2	P12318	FCG2A_HUMAN	Fc fragment of IgG, low affinity IIa, receptor (CD32)	196	Ig-like C2-type 2.					integral to membrane|plasma membrane	IgG binding|receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1)	19	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	TACACGCTGTTCTCATCCAAG	0.527													4	73					0	0	1	0	0	A	161479832	T	A	161479832	3	1	513	1	0	0	0	0	1	0	0	0	5814	1783	62	5	601	5	FCGR2A	1	161479832	Missense_Mutation	SNP	T	TCGA-WY-A85E-01A-11D-A36O-08	6162326	161479832	87770789	7	38417											
IL10	3586	broad.mit.edu	37	1	206943190	206943190	+	Missense_Mutation	SNP	T	T	C			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr1:206943190T>C	ENST00000423557.1	-	4	486	c.428A>G	c.(427-429)aAg>aGg	p.K143R	IL10_ENST00000471071.1_5'UTR	NM_000572.2	NP_000563.1	P22301	IL10_HUMAN	interleukin 10	143					anti-apoptosis|B cell differentiation|B cell proliferation|cytoplasmic sequestering of NF-kappaB|inflammatory response|leukocyte chemotaxis|negative regulation of B cell proliferation|negative regulation of cytokine secretion involved in immune response|negative regulation of interferon-alpha biosynthetic process|negative regulation of interleukin-6 production|negative regulation of membrane protein ectodomain proteolysis|negative regulation of MHC class II biosynthetic process|negative regulation of T cell proliferation|positive regulation of B cell apoptosis|positive regulation of cytokine secretion|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|receptor biosynthetic process|regulation of isotype switching|response to glucocorticoid stimulus|type 2 immune response	extracellular space	cytokine activity|growth factor activity|interleukin-10 receptor binding			endometrium(1)|large_intestine(6)|lung(4)|prostate(1)	12	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.211)			AAAGGCATTCTTCACCTGCTC	0.527													41	37					0	0	1	0	0	C	206943190	T	C	206943190	3	2	513	1	0	0	0	0	1	0	0	0	7663	1609	56	3	116	3	IL10	1	206943190	Missense_Mutation	SNP	T	TCGA-WY-A85E-01A-11D-A36O-08	45463358	206943190	42307431	8	38418											
OBSCN	84033	broad.mit.edu	37	1	228476495	228476495	+	Silent	SNP	C	C	T			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr1:228476495C>T	ENST00000570156.2	+	43	11606	c.11532C>T	c.(11530-11532)tgC>tgT	p.C3844C	OBSCN_ENST00000366707.4_Silent_p.C534C|OBSCN_ENST00000359599.6_Silent_p.C2262C|OBSCN_ENST00000284548.11_Silent_p.C3415C|OBSCN_ENST00000422127.1_Silent_p.C3415C|OBSCN_ENST00000366709.4_Silent_p.C534C	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	2881	Ig-like 39.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GGGCTGTGTGCGAGCTGCAGA	0.632													14	77					0	0	1	0	0	T	228476495	C	T	228476495	2	4	513	1	0	0	0	0	0	0	0	1	10860	776	27	1		1	OBSCN	1	228476495	Silent	SNP	C	TCGA-WY-A85E-01A-11D-A36O-08	21533305	228476495	20774126	9	38419											
MYT1L	23040	broad.mit.edu	37	2	1914018	1914018	+	Missense_Mutation	SNP	A	A	G			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr2:1914018A>G	ENST00000399161.2	-	13	2558	c.1811T>C	c.(1810-1812)gTg>gCg	p.V604A	MYT1L_ENST00000428368.2_Missense_Mutation_p.V602A	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	604					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		GTACCTGAGCACGCGGTCCGA	0.632													13	23					0	0	1	0	0	G	1914018	A	G	1914018	3	3	513	1	0	0	0	0	1	0	0	0	10155	159	6	3	1801	3	MYT1L	2	1914018	Missense_Mutation	SNP	A	TCGA-WY-A85E-01A-11D-A36O-08		1914018	241285355	10	38420											
APOB	338	broad.mit.edu	37	2	21230915	21230915	+	Missense_Mutation	SNP	T	T	C			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr2:21230915T>C	ENST00000233242.1	-	26	8952	c.8825A>G	c.(8824-8826)cAt>cGt	p.H2942R		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	2942					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TTGTGATTCATGTGTTCCCTC	0.438													11	134					0	0	1	0	0	C	21230915	T	C	21230915	3	2	513	1	0	0	0	0	1	0	0	0	782	1464	51	3	4882	3	APOB	2	21230915	Missense_Mutation	SNP	T	TCGA-WY-A85E-01A-11D-A36O-08	19316897	21230915	221968458	11	38421											
ASTL	431705	broad.mit.edu	37	2	96799705	96799705	+	Splice_Site	SNP	G	G	A	rs148110898		TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr2:96799705G>A	ENST00000342380.2	-	4	335	c.336C>T	c.(334-336)taC>taT	p.Y112Y		NM_001002036.3	NP_001002036.3	Q6HA08	ASTL_HUMAN	astacin-like metallo-endopeptidase (M12 family)	112					proteolysis		metalloendopeptidase activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(2)	30						CTCACTCACCGTACTTGCTGG	0.582													3	29					0	0	1	0	0	A	96799705	G	A	96799705	5	1	513	1	0	0	0	0	0	0	1	0	1062	1159	40	1	982	1	ASTL	2	96799705	Splice_Site	SNP	G	TCGA-WY-A85E-01A-11D-A36O-08	75568790	96799705	146399668	12	38422											
THSD7B	80731	broad.mit.edu	37	2	137852651	137852651	+	Missense_Mutation	SNP	G	G	T			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr2:137852651G>T	ENST00000409968.1	+	4	1337	c.1159G>T	c.(1159-1161)Gcc>Tcc	p.A387S	THSD7B_ENST00000272643.3_Missense_Mutation_p.A387S|THSD7B_ENST00000413152.2_Missense_Mutation_p.A356S|THSD7B_ENST00000543459.1_Missense_Mutation_p.A246S					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		TGAGAAAGAGGCCTGCATTGT	0.468													4	34					1	1	1	1	0	T	137852651	G	T	137852651	3	4	513	1	0	0	0	0	1	0	0	0	15940	1203	42	5	1076	5	THSD7B	2	137852651	Missense_Mutation	SNP	G	TCGA-WY-A85E-01A-11D-A36O-08	41052946	137852651	105346722	13	38423											
SPATS2L	26010	broad.mit.edu	37	2	201303981	201303981	+	Silent	SNP	A	A	T			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr2:201303981A>T	ENST00000358677.5	+	7	829	c.582A>T	c.(580-582)acA>acT	p.T194T	SPATS2L_ENST00000451764.2_Silent_p.T194T|SPATS2L_ENST00000409385.1_Silent_p.T134T|SPATS2L_ENST00000360760.5_Intron|SPATS2L_ENST00000409988.3_Silent_p.T194T|SPATS2L_ENST00000409755.3_Silent_p.T224T|SPATS2L_ENST00000409151.1_Silent_p.T202T|SPATS2L_ENST00000409718.1_Silent_p.T194T|SPATS2L_ENST00000409140.3_Silent_p.T194T	NM_001282735.1|NM_001282743.1|NM_001282744.1|NM_015535.2	NP_001269664.1|NP_001269672.1|NP_001269673.1|NP_056350.2	Q9NUQ6	SPS2L_HUMAN	spermatogenesis associated, serine-rich 2-like							cytoplasm|nucleolus				endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)	10						AGGCAAAAACATCTCCTGTTA	0.443													16	34					0	0	1	0	0	T	201303981	A	T	201303981	2	4	513	1	0	0	0	0	0	0	0	1	15076	204	8	4		4	SPATS2L	2	201303981	Silent	SNP	A	TCGA-WY-A85E-01A-11D-A36O-08	63451330	201303981	41895392	14	38424											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	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	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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	0.393			Mis		gliobastoma								22	52					0	0	1	0	0	T	209113112	C	T	209113112	3	4	513	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-WY-A85E-01A-11D-A36O-08	7809131	209113112	34086261	15	38425											
LRRN1	57633	broad.mit.edu	37	3	3887104	3887104	+	Missense_Mutation	SNP	A	A	G			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr3:3887104A>G	ENST00000319331.3	+	2	1540	c.779A>G	c.(778-780)cAa>cGa	p.Q260R	SUMF1_ENST00000534863.1_Intron	NM_020873.5	NP_065924.3	Q6UXK5	LRRN1_HUMAN	leucine rich repeat neuronal 1	260						integral to membrane				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	26				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)		CTTGCCCTGCAAAAAGTTCCA	0.398													44	60					0	0	1	0	0	G	3887104	A	G	3887104	3	3	513	1	0	0	0	0	1	0	0	0	9079	130	5	3	781	3	LRRN1	3	3887104	Missense_Mutation	SNP	A	TCGA-WY-A85E-01A-11D-A36O-08		3887104	194135326	16	38426											
ACVR2B	93	broad.mit.edu	37	3	38519421	38519421	+	Silent	SNP	C	C	T			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr3:38519421C>T	ENST00000352511.4	+	3	802	c.330C>T	c.(328-330)aaC>aaT	p.N110N		NM_001106.3	NP_001097.2	Q13705	AVR2B_HUMAN	activin A receptor, type IIB						activin receptor signaling pathway|anterior/posterior pattern formation|BMP signaling pathway|positive regulation of activin receptor signaling pathway|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|regulation of transcription, DNA-dependent	cell surface|cytoplasm|integral to plasma membrane	activin receptor activity|ATP binding|growth factor binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta receptor activity			lung(1)	1	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0565)|Kidney(284;0.071)		ACTTCTGCAACGAACGCTTCA	0.582													49	52					0	0	1	0	0	T	38519421	C	T	38519421	2	4	513	1	0	0	0	0	0	0	0	1	223	535	19	1		1	ACVR2B	3	38519421	Silent	SNP	C	TCGA-WY-A85E-01A-11D-A36O-08	34632317	38519421	159503009	17	38427											
STAB1	23166	broad.mit.edu	37	3	52539037	52539037	+	Missense_Mutation	SNP	A	A	G			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr3:52539037A>G	ENST00000321725.6	+	13	1472	c.1396A>G	c.(1396-1398)Aaa>Gaa	p.K466E		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	466	FAS1 1.				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		CTACAAGTACAAAGACCAGCC	0.587													4	64					0	0	1	0	0	G	52539037	A	G	52539037	3	3	513	1	0	0	0	0	1	0	0	0	15293	131	5	3	1446	3	STAB1	3	52539037	Missense_Mutation	SNP	A	TCGA-WY-A85E-01A-11D-A36O-08	14019616	52539037	145483393	18	38428											
MORC1	27136	broad.mit.edu	37	3	108780872	108780872	+	Missense_Mutation	SNP	A	A	C			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr3:108780872A>C	ENST00000232603.5	-	11	1011	c.929T>G	c.(928-930)gTa>gGa	p.V310G	MORC1_ENST00000483760.1_Missense_Mutation_p.V310G	NM_014429.3	NP_055244.3	Q86VD1	MORC1_HUMAN	MORC family CW-type zinc finger 1	310					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						ACACTGGTTTACTTTGATTTG	0.338													20	60					0	0	1	0	0	C	108780872	A	C	108780872	3	2	513	1	0	0	0	0	1	0	0	0	9750	391	14	5	2097	5	MORC1	3	108780872	Missense_Mutation	SNP	A	TCGA-WY-A85E-01A-11D-A36O-08	56241835	108780872	89241558	19	38429											
PIK3CA	5290	broad.mit.edu	37	3	178928226	178928226	+	Missense_Mutation	SNP	C	C	T			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr3:178928226C>T	ENST00000263967.3	+	9	1569	c.1412C>T	c.(1411-1413)cCa>cTa	p.P471L		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	471	C2 PI3K-type.				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.P471L(6)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TAGGAAACTCCATGCTTAGAG	0.368		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			5	67					0	0	1	0	0	T	178928226	C	T	178928226	3	4	513	1	0	0	0	0	1	0	0	0	11961	594	21	2	1442	2	PIK3CA	3	178928226	Missense_Mutation	SNP	C	TCGA-WY-A85E-01A-11D-A36O-08	70147354	178928226	19094204	20	38430											
CORIN	10699	broad.mit.edu	37	4	47605646	47605646	+	Silent	SNP	G	G	A			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr4:47605646G>A	ENST00000273857.4	-	20	2579	c.2580C>T	c.(2578-2580)atC>atT	p.I860I	CORIN_ENST00000502252.1_Silent_p.I793I|CORIN_ENST00000505909.1_Silent_p.I823I|CORIN_ENST00000508498.1_Silent_p.I721I	NM_006587.2	NP_006578.2	Q9Y5Q5	CORIN_HUMAN	corin, serine peptidase	860	Peptidase S1.				peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						CTAGATTGTTGATGCCAAGCA	0.428													14	75					0	0	1	0	0	A	47605646	G	A	47605646	2	1	513	1	0	0	0	0	0	0	0	1	3775	1280	45	2		2	CORIN	4	47605646	Silent	SNP	G	TCGA-WY-A85E-01A-11D-A36O-08		47605646	143548630	21	38431											
CSN3	1448	broad.mit.edu	37	4	71115134	71115134	+	Silent	SNP	C	C	A			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr4:71115134C>A	ENST00000304954.3	+	4	593	c.507C>A	c.(505-507)acC>acA	p.T169T		NM_005212.2	NP_005203.2	P07498	CASK_HUMAN	casein kappa	169						extracellular region	protein binding			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18						TCACGAGCACCCCTGAGACAA	0.448													13	23					0.00244969	0.00263458	1	1	0	A	71115134	C	A	71115134	2	1	513	1	0	0	0	0	0	0	0	1	3974	610	22	5		5	CSN3	4	71115134	Silent	SNP	C	TCGA-WY-A85E-01A-11D-A36O-08	23509488	71115134	120039142	22	38432											
PITX2	5308	broad.mit.edu	37	4	111539467	111539467	+	Silent	SNP	C	C	A			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr4:111539467C>A	ENST00000354925.2	-	7	2473	c.768G>T	c.(766-768)gcG>gcT	p.A256A	PITX2_ENST00000394598.2_Silent_p.A256A|PITX2_ENST00000306732.3_Silent_p.A263A|PITX2_ENST00000355080.5_Silent_p.A210A|PITX2_ENST00000394595.3_3'UTR	NM_001204397.1	NP_001191326.1	Q99697	PITX2_HUMAN	paired-like homeodomain 2	256					determination of left/right symmetry|organ morphogenesis	transcription factor complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			breast(1)|endometrium(3)|large_intestine(1)|lung(5)	10		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00222)		GCGTCGGCACCGCGGAATTCA	0.597													6	28					0.0215528	0.0223365	1	1	0	A	111539467	C	A	111539467	2	1	513	1	0	0	0	0	0	0	0	1	12003	639	23	5		5	PITX2	4	111539467	Silent	SNP	C	TCGA-WY-A85E-01A-11D-A36O-08	40424333	111539467	79614809	23	38433											
SLC6A3	6531	broad.mit.edu	37	5	1414807	1414807	+	Splice_Site	SNP	G	G	A	rs145114326		TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr5:1414807G>A	ENST00000270349.9	-	8	1282	c.1155C>T	c.(1153-1155)gaC>gaT	p.D385D	SLC6A3_ENST00000453492.2_Splice_Site_p.D385D	NM_001044.4	NP_001035.1	Q01959	SC6A3_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 3	385					cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body				breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)	GGGGCTCACCGTCCTTGGCCA	0.607													8	16					0	0	1	0	0	A	1414807	G	A	1414807	5	1	513	1	0	0	0	0	0	0	1	0	14740	1159	40	1	739	1	SLC6A3	5	1414807	Splice_Site	SNP	G	TCGA-WY-A85E-01A-11D-A36O-08		1414807	179500453	24	38434											
EGFLAM	133584	broad.mit.edu	37	5	38435297	38435297	+	Missense_Mutation	SNP	A	A	G			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr5:38435297A>G	ENST00000322350.5	+	16	2571	c.2225A>G	c.(2224-2226)tAt>tGt	p.Y742C	EGFLAM_ENST00000336740.6_Missense_Mutation_p.Y508C|EGFLAM_ENST00000397202.2_Missense_Mutation_p.Y108C|EGFLAM_ENST00000354891.3_Missense_Mutation_p.Y742C	NM_152403.3	NP_689616.2	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	742	Laminin G-like 2.					cell junction|proteinaceous extracellular matrix|synapse				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					GTCCCCAATTATGATGATGTG	0.453													5	63					0	0	1	0	0	G	38435297	A	G	38435297	3	3	513	1	0	0	0	0	1	0	0	0	4992	449	16	3	2301	3	EGFLAM	5	38435297	Missense_Mutation	SNP	A	TCGA-WY-A85E-01A-11D-A36O-08	37020490	38435297	142479963	25	38435											
PTGER4	5734	broad.mit.edu	37	5	40681653	40681653	+	Silent	SNP	C	C	T			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr5:40681653C>T	ENST00000302472.3	+	2	1582	c.558C>T	c.(556-558)taC>taT	p.Y186Y	PTGER4_ENST00000514343.1_3'UTR	NM_000958.2	NP_000949.1	P35408	PE2R4_HUMAN	prostaglandin E receptor 4 (subtype EP4)	186					G-protein signaling, coupled to cAMP nucleotide second messenger|immune response	integral to membrane|plasma membrane	prostaglandin E receptor activity			breast(1)|endometrium(3)|liver(1)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						CCTACTCCTACATGTACGCGG	0.637													4	48					0	0	1	0	0	T	40681653	C	T	40681653	2	4	513	1	0	0	0	0	0	0	0	1	12795	489	17	2		2	PTGER4	5	40681653	Silent	SNP	C	TCGA-WY-A85E-01A-11D-A36O-08	2246356	40681653	140233607	26	38436											
ITGA2	3673	broad.mit.edu	37	5	52355772	52355772	+	Silent	SNP	T	T	C			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr5:52355772T>C	ENST00000296585.5	+	11	1385	c.1242T>C	c.(1240-1242)caT>caC	p.H414H		NM_002203.3	NP_002194.2	P17301	ITA2_HUMAN	integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	414					axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis	integrin complex	collagen binding|identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)				AGACATCTCATGGCCATTTGA	0.398													27	40					0	0	1	0	0	C	52355772	T	C	52355772	2	2	513	1	0	0	0	0	0	0	0	1	7919	1461	51	3		3	ITGA2	5	52355772	Silent	SNP	T	TCGA-WY-A85E-01A-11D-A36O-08	11674119	52355772	128559488	27	38437											
BTNL3	10917	broad.mit.edu	37	5	180432371	180432371	+	Silent	SNP	G	G	A			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr5:180432371G>A	ENST00000342868.6	+	8	1084	c.900G>A	c.(898-900)aaG>aaA	p.K300K		NM_197975.2	NP_932079.1	Q6UXE8	BTNL3_HUMAN	butyrophilin-like 3	300	B30.2/SPRY.				lipid metabolic process	integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(10)|prostate(2)|skin(1)	25	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.00336)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)|all_lung(500;0.248)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000272)			CTCACCCGAAGCTCTGCGTTT	0.532													25	42					0	0	1	0	0	A	180432371	G	A	180432371	2	1	513	1	0	0	0	0	0	0	0	1	1569	962	34	2		2	BTNL3	5	180432371	Silent	SNP	G	TCGA-WY-A85E-01A-11D-A36O-08	128076599	180432371	482889	28	38438											
HIST1H2AE	3012	broad.mit.edu	37	6	26217213	26217213	+	Missense_Mutation	SNP	G	G	T			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr6:26217213G>T	ENST00000303910.2	+	1	49	c.11G>T	c.(10-12)cGt>cTt	p.R4L		NM_021052.2	NP_066390.1	P04908	H2A1B_HUMAN	histone cluster 1, H2ae	4					nucleosome assembly	nucleosome|nucleus	DNA binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)	10		all_hematologic(11;0.196)				ATGTCTGGACGTGGAAAGCAA	0.493													3	55					1	1	1	1	0	T	26217213	G	T	26217213	3	4	513	1	0	0	0	0	1	0	0	0	7173	1145	40	5	13	5	HIST1H2AE	6	26217213	Missense_Mutation	SNP	G	TCGA-WY-A85E-01A-11D-A36O-08		26217213	144897854	29	38439											
COL9A1	1297	broad.mit.edu	37	6	71004030	71004030	+	Missense_Mutation	SNP	T	T	A	rs28483918		TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr6:71004030T>A	ENST00000357250.6	-	5	694	c.536A>T	c.(535-537)cAg>cTg	p.Q179L	COL9A1_ENST00000370496.3_Missense_Mutation_p.Q179L	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1	179	Nonhelical region (NC4).|TSP N-terminal.				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						CTTATGCCACTGGGAATCAAA	0.418													4	115					0	0	1	0	0	A	71004030	T	A	71004030	3	1	513	1	0	0	0	0	1	0	0	0	3730	1580	55	5	2441	5	COL9A1	6	71004030	Missense_Mutation	SNP	T	TCGA-WY-A85E-01A-11D-A36O-08	44786817	71004030	100111037	30	38440											
BCKDHB	594	broad.mit.edu	37	6	81053471	81053471	+	Missense_Mutation	SNP	C	C	G			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr6:81053471C>G	ENST00000320393.6	+	10	1176	c.1129C>G	c.(1129-1131)Cca>Gca	p.P377A	BCKDHB_ENST00000356489.5_Missense_Mutation_p.P377A|BCKDHB_ENST00000545529.1_3'UTR	NM_183050.2	NP_898871.1	P21953	ODBB_HUMAN	branched chain keto acid dehydrogenase E1, beta polypeptide	377					branched chain family amino acid catabolic process	mitochondrial alpha-ketoglutarate dehydrogenase complex	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity|carboxy-lyase activity|protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(1)	15		all_cancers(76;1.38e-05)|Acute lymphoblastic leukemia(125;1.15e-05)|all_hematologic(105;0.00118)|all_epithelial(107;0.0149)		BRCA - Breast invasive adenocarcinoma(397;0.0291)		ATTCTACATCCCAGACAAATG	0.408													19	76					0	0	1	0	0	G	81053471	C	G	81053471	3	3	513	1	0	0	0	0	1	0	0	0	1358	623	22	5	1167	5	BCKDHB	6	81053471	Missense_Mutation	SNP	C	TCGA-WY-A85E-01A-11D-A36O-08	10049441	81053471	90061596	31	38441											
NR2E1	7101	broad.mit.edu	37	6	108492701	108492701	+	Missense_Mutation	SNP	G	G	A			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr6:108492701G>A	ENST00000368986.4	+	2	773	c.65G>A	c.(64-66)cGc>cAc	p.R22H	NR2E1_ENST00000368983.3_Missense_Mutation_p.R59H	NM_003269.3	NP_003260.1	Q9Y466	NR2E1_HUMAN	nuclear receptor subfamily 2, group E, member 1	22					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(16)|prostate(1)|skin(3)	30		all_cancers(87;8.13e-05)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00866)|Colorectal(196;0.0637)		BRCA - Breast invasive adenocarcinoma(108;0.013)|Epithelial(106;0.0521)|all cancers(137;0.068)|OV - Ovarian serous cystadenocarcinoma(136;0.0689)		TGTGGCGACCGCAGCTCGGGG	0.572													5	117					0	0	1	0	0	A	108492701	G	A	108492701	3	1	513	1	0	0	0	0	1	0	0	0	10673	1087	38	1	71	1	NR2E1	6	108492701	Missense_Mutation	SNP	G	TCGA-WY-A85E-01A-11D-A36O-08	27439230	108492701	62622366	32	38442											
GPRC6A	222545	broad.mit.edu	37	6	117130560	117130560	+	Missense_Mutation	SNP	T	T	C			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr6:117130560T>C	ENST00000310357.3	-	2	436	c.415A>G	c.(415-417)Aga>Gga	p.R139G	GPRC6A_ENST00000368549.3_Missense_Mutation_p.R139G|GPRC6A_ENST00000530250.1_Missense_Mutation_p.R139G	NM_148963.2	NP_683766.2	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, family C, group 6, member A	139					response to amino acid stimulus		G-protein coupled receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		GCCTTAACTCTTGGCATGTAG	0.448													6	72					0	0	1	0	0	C	117130560	T	C	117130560	3	2	513	1	0	0	0	0	1	0	0	0	6769	1617	56	3	2385	3	GPRC6A	6	117130560	Missense_Mutation	SNP	T	TCGA-WY-A85E-01A-11D-A36O-08	8637859	117130560	53984507	33	38443											
NPSR1	387129	broad.mit.edu	37	7	34888182	34888182	+	Missense_Mutation	SNP	C	C	A			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr7:34888182C>A	ENST00000360581.1	+	8	1060	c.932C>A	c.(931-933)gCc>gAc	p.A311D	NPSR1_ENST00000531252.1_Missense_Mutation_p.A300D|NPSR1_ENST00000381542.1_Missense_Mutation_p.A245D|NPSR1_ENST00000359791.1_Missense_Mutation_p.A311D|NPSR1_ENST00000381539.3_Missense_Mutation_p.A311D	NM_207172.1	NP_997055.1	Q6W5P4	NPSR1_HUMAN	neuropeptide S receptor 1	311						cytoplasm|integral to membrane|plasma membrane	vasopressin receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7)	31					Halothane(DB01159)	CGTTTCTATGCCTCTGTGATC	0.498													15	220					3.27435e-08	3.62404e-08	1	1	0	A	34888182	C	A	34888182	3	1	513	1	0	0	0	0	1	0	0	0	10648	739	26	5	962	5	NPSR1	7	34888182	Missense_Mutation	SNP	C	TCGA-WY-A85E-01A-11D-A36O-08		34888182	124250481	34	38444											
MDFIC	29969	broad.mit.edu	37	7	114619720	114619720	+	Missense_Mutation	SNP	C	C	A			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr7:114619720C>A	ENST00000393486.1	+	4	967	c.377C>A	c.(376-378)cCt>cAt	p.P126H	MDFIC_ENST00000257724.3_Missense_Mutation_p.P235H	NM_001166345.1|NM_199072.4	NP_001159817.1|NP_951038.1	Q9P1T7	MDFIC_HUMAN	MyoD family inhibitor domain containing	126					activation of JUN kinase activity|interspecies interaction between organisms|negative regulation of protein import into nucleus|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|regulation of Wnt receptor signaling pathway|transcription, DNA-dependent	cytoplasm|nucleolus|nucleus	cyclin binding|Tat protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	8						CTTTCAGCACCTGTTTCTCAA	0.423													14	54					9.31168e-06	1.0207e-05	1	1	0	A	114619720	C	A	114619720	3	1	513	1	0	0	0	0	1	0	0	0	9455	681	24	4	760	4	MDFIC	7	114619720	Missense_Mutation	SNP	C	TCGA-WY-A85E-01A-11D-A36O-08	79731538	114619720	44518943	35	38445											
TAS2R16	50833	broad.mit.edu	37	7	122635208	122635208	+	Missense_Mutation	SNP	G	G	T	rs28371576	byFrequency	TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr7:122635208G>T	ENST00000249284.2	-	1	546	c.481C>A	c.(481-483)Cca>Aca	p.P161T		NM_016945.2	NP_058641.1	Q9NYV7	T2R16_HUMAN	taste receptor, type 2, member 16	161					detection of chemical stimulus involved in sensory perception of bitter taste	endoplasmic reticulum|external side of plasma membrane|trans-Golgi network	bitter taste receptor activity|protein binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						CTGTTTCTTGGTAGATGCTCC	0.393													7	139					0.0293803	0.0301744	1	1	0	T	122635208	G	T	122635208	3	4	513	1	0	0	0	0	1	0	0	0	15626	1261	44	5	398	5	TAS2R16	7	122635208	Missense_Mutation	SNP	G	TCGA-WY-A85E-01A-11D-A36O-08	8015488	122635208	36503455	36	38446											
FLNC	2318	broad.mit.edu	37	7	128493627	128493627	+	Frame_Shift_Del	DEL	C	C	-			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr7:128493627delC	ENST00000325888.8	+	38	6574	c.6313delC	c.(6313-6315)cccfs	p.P2105fs	RP11-309L24.2_ENST00000469965.1_RNA|FLNC_ENST00000346177.6_Frame_Shift_Del_p.P2072fs	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	2105					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						CCCCACCGAGCCCGGCACCTA	0.592													13	40	---	---	---	---						-	128493627	C	-	128493627	7	5	513	1	0	1	0	1	0	0	0	0	5968	739	26	0	6463	0	FLNC	7	128493627	Frame_Shift_Del	DEL	C	TCGA-WY-A85E-01A-11D-A36O-08	5858419	128493627	30645036	37	38447											
NEFM	4741	broad.mit.edu	37	8	24775141	24775141	+	Missense_Mutation	SNP	G	G	T			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr8:24775141G>T	ENST00000221166.5	+	3	2555	c.1773G>T	c.(1771-1773)aaG>aaT	p.K591N	NEFM_ENST00000518131.1_Intron|NEFM_ENST00000433454.2_Missense_Mutation_p.K215N|NEFM_ENST00000437366.2_Missense_Mutation_p.K591N|NEFM_ENST00000521540.1_Intron			P07197	NFM_HUMAN	neurofilament, medium polypeptide	591	Tail.					neurofilament	protein binding|structural constituent of cytoskeleton			breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1)	36		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		tggaggaaaagagtgaggaag	0.488													4	22					0.00909568	0.00951291	1	1	0	T	24775141	G	T	24775141	3	4	513	1	0	0	0	0	1	0	0	0	10363	933	33	4	1783	4	NEFM	8	24775141	Missense_Mutation	SNP	G	TCGA-WY-A85E-01A-11D-A36O-08		24775141	121588881	38	38448											
TACC1	6867	broad.mit.edu	37	8	38646271	38646271	+	Nonsense_Mutation	SNP	C	C	T			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr8:38646271C>T	ENST00000379931.3	+	2	590	c.211C>T	c.(211-213)Cga>Tga	p.R71*	TACC1_ENST00000520340.1_Nonsense_Mutation_p.R35*|TACC1_ENST00000443286.2_Nonsense_Mutation_p.R87*|TACC1_ENST00000317827.4_Nonsense_Mutation_p.R71*|TACC1_ENST00000520973.1_5'UTR|TACC1_ENST00000348567.4_Intron|TACC1_ENST00000519416.1_5'UTR|TACC1_ENST00000518415.1_Nonsense_Mutation_p.R26*|TACC1_ENST00000276520.8_Intron|TACC1_ENST00000522752.1_Intron|TACC1_ENST00000330691.6_Intron|TACC1_ENST00000520615.1_5'UTR			O75410	TACC1_HUMAN	transforming, acidic coiled-coil containing protein 1	71					cell cycle|cell division	intermediate filament cytoskeleton|microtubule organizing center|nucleus	protein binding			breast(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(3)	17		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.065)	LUSC - Lung squamous cell carcinoma(45;1.7e-09)|COAD - Colon adenocarcinoma(9;0.235)			AACCCCGATCCGATCACCTTT	0.463													8	21					0	0	1	0	0	T	38646271	C	T	38646271	4	4	513	1	0	0	0	0	0	1	0	0	15558	644	23	1	217	1	TACC1	8	38646271	Nonsense_Mutation	SNP	C	TCGA-WY-A85E-01A-11D-A36O-08	13871130	38646271	107717751	39	38449											
TRPA1	8989	broad.mit.edu	37	8	72970013	72970013	+	Silent	SNP	A	A	G			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr8:72970013A>G	ENST00000262209.4	-	9	1239	c.1032T>C	c.(1030-1032)tcT>tcC	p.S344S		NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	344						integral to plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	ATATAAGTGGAGAGCGTCCTT	0.353													18	34					0	0	1	0	0	G	72970013	A	G	72970013	2	3	513	1	0	0	0	0	0	0	0	1	16638	291	11	3		3	TRPA1	8	72970013	Silent	SNP	A	TCGA-WY-A85E-01A-11D-A36O-08	34323742	72970013	73394009	40	38450											
ESRP1	54845	broad.mit.edu	37	8	95683729	95683729	+	Missense_Mutation	SNP	C	C	A			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr8:95683729C>A	ENST00000433389.2	+	11	1472	c.1282C>A	c.(1282-1284)Ccc>Acc	p.P428T	ESRP1_ENST00000358397.5_Missense_Mutation_p.P428T|ESRP1_ENST00000454170.2_Missense_Mutation_p.P428T|ESRP1_ENST00000423620.2_Missense_Mutation_p.P428T	NM_001034915.2|NM_017697.3	NP_001030087.2|NP_060167.2	Q6NXG1	ESRP1_HUMAN	epithelial splicing regulatory protein 1	428					mRNA processing|regulation of RNA splicing|RNA splicing	nucleus|plasma membrane	mRNA binding|nucleotide binding		ESRP1/RAF1(4)	NS(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(2)	20						TCCAACCCCTCCCATTATTCC	0.478													18	36					1.22574e-08	1.36994e-08	1	1	0	A	95683729	C	A	95683729	3	1	513	1	0	0	0	0	1	0	0	0	5286	855	30	5	1324	5	ESRP1	8	95683729	Missense_Mutation	SNP	C	TCGA-WY-A85E-01A-11D-A36O-08	22713716	95683729	50680293	41	38451											
GABBR2	9568	broad.mit.edu	37	9	101056066	101056066	+	Splice_Site	SNP	C	C	A			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr9:101056066C>A	ENST00000259455.2	-	18	3120		c.e18+1			NM_005458.7	NP_005449.5	O75899	GABR2_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 2						negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity		NOTCH1_ENST00000277541/GABBR2(2)	breast(4)|endometrium(4)|large_intestine(12)|lung(21)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	49		Acute lymphoblastic leukemia(62;0.0527)			Baclofen(DB00181)	AAGGTACTTACTGTTCTGGAG	0.378													34	121					4.62619e-21	5.43696e-21	1	1	0	A	101056066	C	A	101056066	5	1	513	1	0	0	0	0	0	0	1	0	6191	579	20	4	172	4	GABBR2	9	101056066	Splice_Site	SNP	C	TCGA-WY-A85E-01A-11D-A36O-08		101056066	40157365	42	38452											
C9orf116	138162	broad.mit.edu	37	9	138391685	138391685	+	Missense_Mutation	SNP	A	A	G			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr9:138391685A>G	ENST00000371789.3	-	1	679	c.13T>C	c.(13-15)Tgc>Cgc	p.C5R	C9orf116_ENST00000371791.1_Missense_Mutation_p.C5R|C9orf116_ENST00000429260.2_Missense_Mutation_p.C5R			Q5BN46	CI116_HUMAN	chromosome 9 open reading frame 116	5															OV - Ovarian serous cystadenocarcinoma(145;7.39e-08)|Epithelial(140;5.19e-07)|all cancers(34;1.04e-05)		GCTCTGGGGCATTCCTCAGCC	0.706													5	11					0	0	1	0	0	G	138391685	A	G	138391685	3	3	513	1	0	0	0	0	1	0	0	0	2468	217	8	3	409	3	C9orf116	9	138391685	Missense_Mutation	SNP	A	TCGA-WY-A85E-01A-11D-A36O-08	37335619	138391685	2821746	43	38453											
ANXA11	311	broad.mit.edu	37	10	81921729	81921729	+	Missense_Mutation	SNP	G	G	A			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr10:81921729G>A	ENST00000438331.1	-	13	1624	c.1142C>T	c.(1141-1143)gCg>gTg	p.A381V	ANXA11_ENST00000360615.4_Missense_Mutation_p.A381V|ANXA11_ENST00000422982.3_Missense_Mutation_p.A381V|ANXA11_ENST00000535999.1_Missense_Mutation_p.A381V|ANXA11_ENST00000372231.3_Missense_Mutation_p.A381V|ANXA11_ENST00000537102.1_Missense_Mutation_p.A348V|ANXA11_ENST00000265447.4_Missense_Mutation_p.A381V	NM_145869.1	NP_665876.1	P50995	ANX11_HUMAN	annexin A11	381					cell cycle|cytokinesis, completion of separation|phagocytosis|response to calcium ion	azurophil granule|melanosome|midbody|nuclear envelope|nucleoplasm|phagocytic vesicle|specific granule|spindle	calcium-dependent phospholipid binding|calcium-dependent protein binding|S100 alpha binding			endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|urinary_tract(1)	17	Prostate(51;0.00985)|all_epithelial(25;0.0951)		Colorectal(32;0.109)			GCACAGAACCGCATTGAACTT	0.627											OREG0020322	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	46					0	0	1	0	0	A	81921729	G	A	81921729	3	1	513	1	0	0	0	0	1	0	0	0	710	1087	38	1	395	1	ANXA11	10	81921729	Missense_Mutation	SNP	G	TCGA-WY-A85E-01A-11D-A36O-08		81921729	53613018	44	38454											
DYDC2	84332	broad.mit.edu	37	10	82122275	82122275	+	Missense_Mutation	SNP	C	C	T			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr10:82122275C>T	ENST00000372199.1	+	4	674	c.76C>T	c.(76-78)Ccc>Tcc	p.P26S	DYDC2_ENST00000372198.1_Missense_Mutation_p.P40S|DYDC2_ENST00000256039.2_Missense_Mutation_p.P26S|DYDC2_ENST00000372197.1_Missense_Mutation_p.P26S|DYDC2_ENST00000444807.2_Missense_Mutation_p.P26S			Q96IM9	DYDC2_HUMAN	DPY30 domain containing 2	26							protein binding			breast(1)|large_intestine(3)|lung(6)|skin(1)	11			Colorectal(32;0.229)			GAAGGTTCGGCCCAGTGACCC	0.498													29	32					0	0	1	0	0	T	82122275	C	T	82122275	3	4	513	1	0	0	0	0	1	0	0	0	4865	739	26	2	78	2	DYDC2	10	82122275	Missense_Mutation	SNP	C	TCGA-WY-A85E-01A-11D-A36O-08	200546	82122275	53412472	45	38455											
HPSE2	60495	broad.mit.edu	37	10	100453669	100453669	+	Missense_Mutation	SNP	A	A	T			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr10:100453669A>T	ENST00000370552.3	-	6	1051	c.992T>A	c.(991-993)gTt>gAt	p.V331D	HPSE2_ENST00000404542.1_Missense_Mutation_p.V219D|HPSE2_ENST00000370549.1_Missense_Mutation_p.V273D|HPSE2_ENST00000370546.1_Missense_Mutation_p.V331D	NM_021828.4	NP_068600.4	Q8WWQ2	HPSE2_HUMAN	heparanase 2	331					carbohydrate metabolic process	intracellular|membrane	cation binding|heparanase activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	40				Epithelial(162;1.8e-09)|all cancers(201;4.72e-07)		TTGCCAGGTAACTGCATCTAC	0.343													23	34					0	0	1	0	0	T	100453669	A	T	100453669	3	4	513	1	0	0	0	0	1	0	0	0	7386	43	2	5	852	5	HPSE2	10	100453669	Missense_Mutation	SNP	A	TCGA-WY-A85E-01A-11D-A36O-08	18331394	100453669	35081078	46	38456											
OR51M1	390059	broad.mit.edu	37	11	5411068	5411068	+	Missense_Mutation	SNP	T	T	C			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr11:5411068T>C	ENST00000328611.3	+	1	462	c.440T>C	c.(439-441)aTt>aCt	p.I147T	AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron	NM_001004756.2	NP_001004756.2	B2RNI9	B2RNI9_HUMAN	olfactory receptor, family 51, subfamily M, member 1	147						integral to membrane	olfactory receptor activity			NS(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|upper_aerodigestive_tract(1)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TATTCGGTCATTATCACTGGC	0.527													21	123					0	0	1	0	0	C	5411068	T	C	5411068	3	2	513	1	0	0	0	0	1	0	0	0	11151	1493	52	3	442	3	OR51M1	11	5411068	Missense_Mutation	SNP	T	TCGA-WY-A85E-01A-11D-A36O-08		5411068	129595448	47	38457											
TRIM22	10346	broad.mit.edu	37	11	5729464	5729464	+	Nonsense_Mutation	SNP	C	C	T			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr11:5729464C>T	ENST00000379965.3	+	6	1112	c.835C>T	c.(835-837)Cga>Tga	p.R279*	TRIM5_ENST00000380027.1_Intron	NM_001199573.1|NM_006074.4	NP_001186502.1|NP_006065.2	Q8IYM9	TRI22_HUMAN	tripartite motif containing 22	279					immune response|interspecies interaction between organisms|protein trimerization|response to virus	Cajal body|Golgi apparatus|nuclear speck	ligase activity|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			kidney(3)|large_intestine(8)|lung(9)|prostate(1)|stomach(2)	23		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;7.54e-09)|BRCA - Breast invasive adenocarcinoma(625;0.14)		GAGTGTATTCCGAGTACCAGA	0.418													6	33					0	0	1	0	0	T	5729464	C	T	5729464	4	4	513	1	0	0	0	0	0	1	0	0	16557	644	23	1	853	1	TRIM22	11	5729464	Nonsense_Mutation	SNP	C	TCGA-WY-A85E-01A-11D-A36O-08	318396	5729464	129277052	48	38458											
OR9Q2	219957	broad.mit.edu	37	11	57958704	57958704	+	Missense_Mutation	SNP	G	G	A			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr11:57958704G>A	ENST00000311591.3	+	1	799	c.742G>A	c.(742-744)Gtc>Atc	p.V248I		NM_001005283.2	NP_001005283.1	Q8NGE9	OR9Q2_HUMAN	olfactory receptor, family 9, subfamily Q, member 2	248					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V248I(1)		breast(2)|central_nervous_system(2)|endometrium(1)|large_intestine(3)|lung(24)|ovary(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41		Breast(21;0.0589)				CCTCACTGCCGTCGCTCTTTT	0.577													4	83					0	0	1	0	0	A	57958704	G	A	57958704	3	1	513	1	0	0	0	0	1	0	0	0	11303	1145	40	1	744	1	OR9Q2	11	57958704	Missense_Mutation	SNP	G	TCGA-WY-A85E-01A-11D-A36O-08	52229240	57958704	77047812	49	38459											
TMEM134	80194	broad.mit.edu	37	11	67234993	67234993	+	Missense_Mutation	SNP	C	C	T			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr11:67234993C>T	ENST00000393877.3	-	3	365	c.308G>A	c.(307-309)cGc>cAc	p.R103H	TMEM134_ENST00000308022.2_Missense_Mutation_p.R103H|TMEM134_ENST00000541059.1_5'UTR|TMEM134_ENST00000452789.2_Missense_Mutation_p.R94H	NM_001078650.1	NP_001072118.1	Q9H6X4	TM134_HUMAN	transmembrane protein 134	103						integral to membrane				endometrium(1)|lung(1)	2						GTTGTAGGAGCGCTGGGTGCT	0.682													15	45					0	0	1	0	0	T	67234993	C	T	67234993	3	4	513	1	0	0	0	0	1	0	0	0	16110	768	27	1	299	1	TMEM134	11	67234993	Missense_Mutation	SNP	C	TCGA-WY-A85E-01A-11D-A36O-08	9276289	67234993	67771523	50	38460											
CHRDL2	25884	broad.mit.edu	37	11	74441896	74441896	+	Frame_Shift_Del	DEL	C	C	-			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr11:74441896delC	ENST00000376332.3	-	1	534	c.38delG	c.(37-39)ggafs	p.G13fs	CHRDL2_ENST00000263671.5_Frame_Shift_Del_p.G13fs|CHRDL2_ENST00000534159.1_5'UTR	NM_001278473.1	NP_001265402.1	Q6WN34	CRDL2_HUMAN	chordin-like 2	13					cartilage development|cell differentiation|ossification	extracellular region|mitochondrion				endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)|skin(2)	15	Hepatocellular(1;0.098)					CAGCGCGAGTCCCAGCAAGGA	0.662													2	4	---	---	---	---						-	74441896	C	-	74441896	7	5	513	1	0	1	0	1	0	0	0	0	3396	855	30	0	1365	0	CHRDL2	11	74441896	Frame_Shift_Del	DEL	C	TCGA-WY-A85E-01A-11D-A36O-08	7206903	74441896	60564620	51	38461											
EFCAB4B	84766	broad.mit.edu	37	12	3806033	3806033	+	Missense_Mutation	SNP	T	T	C			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr12:3806033T>C	ENST00000440314.2	-	4	606	c.133A>G	c.(133-135)Acg>Gcg	p.T45A	EFCAB4B_ENST00000444507.1_Missense_Mutation_p.T45A|EFCAB4B_ENST00000252322.1_Missense_Mutation_p.T45A	NM_001144958.1	NP_001138430.1	Q9BSW2	EFC4B_HUMAN	EF-hand calcium binding domain 4B	45					activation of store-operated calcium channel activity|store-operated calcium entry	cytoplasm	calcium ion binding|protein binding			breast(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00287)|COAD - Colon adenocarcinoma(12;0.0264)			TGGCCCGACGTTTGCTCCTGA	0.592													3	61					0	0	1	0	0	C	3806033	T	C	3806033	3	2	513	1	0	0	0	0	1	0	0	0	4963	1725	60	3	2322	3	EFCAB4B	12	3806033	Missense_Mutation	SNP	T	TCGA-WY-A85E-01A-11D-A36O-08		3806033	130045862	52	38462											
SLC6A15	55117	broad.mit.edu	37	12	85257323	85257323	+	Nonsense_Mutation	SNP	A	A	T			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr12:85257323A>T	ENST00000266682.5	-	11	2254	c.1713T>A	c.(1711-1713)taT>taA	p.Y571*	SLC6A15_ENST00000552192.1_Nonsense_Mutation_p.Y464*|SLC6A15_ENST00000309283.7_Nonsense_Mutation_p.Y279*	NM_182767.5	NP_877499.1	Q9H2J7	S6A15_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 15	571					cellular nitrogen compound metabolic process|leucine transport|proline transport	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			kidney(1)|large_intestine(18)|lung(15)|ovary(1)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	44						ATTTCCACATATAGTAGTAAT	0.323													53	82					0	0	1	0	0	T	85257323	A	T	85257323	4	4	513	1	0	0	0	0	0	1	0	0	14733	456	16	4	487	4	SLC6A15	12	85257323	Nonsense_Mutation	SNP	A	TCGA-WY-A85E-01A-11D-A36O-08	81451290	85257323	48594572	53	38463											
TSC22D1	8848	broad.mit.edu	37	13	45150204	45150204	+	Frame_Shift_Del	DEL	G	G	-			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr13:45150204delG	ENST00000458659.2	-	1	497	c.7delC	c.(7-9)cagfs	p.Q3fs	TSC22D1_ENST00000501704.2_Frame_Shift_Del_p.Q3fs	NM_183422.3	NP_904358.2	Q15714	T22D1_HUMAN	TSC22 domain family, member 1	3					transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding transcription factor activity			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118)		TCAGGCGGCTGGTGCATTGTG	0.627													2	4	---	---	---	---						-	45150204	G	-	45150204	7	5	513	1	0	1	0	1	0	0	0	0	16668	1357	47	0	3355	0	TSC22D1	13	45150204	Frame_Shift_Del	DEL	G	TCGA-WY-A85E-01A-11D-A36O-08		45150204	70019674	54	38464											
OR6S1	341799	broad.mit.edu	37	14	21109228	21109228	+	Missense_Mutation	SNP	A	A	G			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr14:21109228A>G	ENST00000320704.3	-	1	622	c.623T>C	c.(622-624)cTc>cCc	p.L208P		NM_001001968.1	NP_001001968.1	Q8NH40	OR6S1_HUMAN	olfactory receptor, family 6, subfamily S, member 1	208					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	all_cancers(95;0.00304)		Epithelial(56;1.23e-06)|all cancers(55;1.01e-05)	GBM - Glioblastoma multiforme(265;0.0135)		TACAATGACGAGGGAGGCCAG	0.577													4	63					0	0	1	0	0	G	21109228	A	G	21109228	3	3	513	1	0	0	0	0	1	0	0	0	11256	304	11	3	376	3	OR6S1	14	21109228	Missense_Mutation	SNP	A	TCGA-WY-A85E-01A-11D-A36O-08		21109228	86240312	55	38465											
CPNE6	9362	broad.mit.edu	37	14	24542245	24542245	+	Silent	SNP	C	C	A			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr14:24542245C>A	ENST00000397016.2	+	3	411	c.100C>A	c.(100-102)Cgg>Agg	p.R34R	CPNE6_ENST00000560092.1_Intron|CPNE6_ENST00000537691.1_Silent_p.R89R|CPNE6_ENST00000216775.2_Silent_p.R34R	NM_001280558.1	NP_001267487.1	O95741	CPNE6_HUMAN	copine VI (neuronal)	34	C2 1.				lipid metabolic process|nervous system development|synaptic transmission|vesicle-mediated transport		calcium ion binding|transporter activity			endometrium(4)|large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	22				GBM - Glioblastoma multiforme(265;0.0184)		CCTCCTGGACCGGGACACACT	0.622													3	25					0.00909568	0.00951291	1	1	0	A	24542245	C	A	24542245	2	1	513	1	0	0	0	0	0	0	0	1	3839	643	23	5		5	CPNE6	14	24542245	Silent	SNP	C	TCGA-WY-A85E-01A-11D-A36O-08	3433017	24542245	82807295	56	38466											
PDCD7	10081	broad.mit.edu	37	15	65425256	65425256	+	Silent	SNP	C	C	T			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr15:65425256C>T	ENST00000204549.4	-	1	918	c.864G>A	c.(862-864)aaG>aaA	p.K288K		NM_005707.1	NP_005698.1	Q8N8D1	PDCD7_HUMAN	programmed cell death 7	288					apoptosis|induction of apoptosis|response to glucocorticoid stimulus	U12-type spliceosomal complex				endometrium(4)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	7						TCACCCGCTTCTTCTCCTCCA	0.637													4	24					0	0	1	0	0	T	65425256	C	T	65425256	2	4	513	1	0	0	0	0	0	0	0	1	11672	912	32	2		2	PDCD7	15	65425256	Silent	SNP	C	TCGA-WY-A85E-01A-11D-A36O-08		65425256	37106136	57	38467	156	2									
PDCD7	10081	broad.mit.edu	37	15	65425262	65425262	+	Missense_Mutation	SNP	C	C	G			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr15:65425262C>G	ENST00000204549.4	-	1	912	c.858G>C	c.(856-858)gaG>gaC	p.E286D		NM_005707.1	NP_005698.1	Q8N8D1	PDCD7_HUMAN	programmed cell death 7	286					apoptosis|induction of apoptosis|response to glucocorticoid stimulus	U12-type spliceosomal complex				endometrium(4)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	7						GCTTCTTCTCCTCCACCTCCT	0.652													4	23					0	0	1	0	0	G	65425262	C	G	65425262	3	3	513	1	0	0	0	0	1	0	0	0	11672	680	24	4	619	4	PDCD7	15	65425262	Missense_Mutation	SNP	C	TCGA-WY-A85E-01A-11D-A36O-08	6	65425262	37106130	58	38468	156	2									
ACSBG1	23205	broad.mit.edu	37	15	78474351	78474351	+	Nonsense_Mutation	SNP	C	C	T			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr15:78474351C>T	ENST00000258873.4	-	8	1236	c.1031G>A	c.(1030-1032)tGg>tAg	p.W344*	ACSBG1_ENST00000541759.1_Nonsense_Mutation_p.W102*|ACSBG1_ENST00000560817.1_Nonsense_Mutation_p.W102*	NM_001199377.1|NM_015162.4	NP_001186306.1|NP_055977.3	Q96GR2	ACBG1_HUMAN	acyl-CoA synthetase bubblegum family member 1	344					long-chain fatty acid metabolic process|myelination|very long-chain fatty acid metabolic process	cytoplasmic membrane-bounded vesicle|endoplasmic reticulum|microsome	ATP binding|long-chain fatty acid-CoA ligase activity|very long-chain fatty acid-CoA ligase activity			endometrium(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	37						CTGGGCCCCCCACTGGATGCC	0.627													15	27					0	0	1	0	0	T	78474351	C	T	78474351	4	4	513	1	0	0	0	0	0	1	0	0	173	595	21	2	1171	2	ACSBG1	15	78474351	Nonsense_Mutation	SNP	C	TCGA-WY-A85E-01A-11D-A36O-08	13049089	78474351	24057041	59	38469											
ACAN	176	broad.mit.edu	37	15	89403664	89403664	+	Missense_Mutation	SNP	A	A	C			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr15:89403664A>C	ENST00000439576.2	+	13	7314	c.6940A>C	c.(6940-6942)Aac>Cac	p.N2314H	ACAN_ENST00000559004.1_Intron|ACAN_ENST00000352105.7_Intron|ACAN_ENST00000561243.1_Missense_Mutation_p.N2314H	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	2314					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			CGAGCACTGTAACATAGGTAA	0.617													6	23					0	0	1	0	0	C	89403664	A	C	89403664	3	2	513	1	0	0	0	0	1	0	0	0	117	362	13	5	6986	5	ACAN	15	89403664	Missense_Mutation	SNP	A	TCGA-WY-A85E-01A-11D-A36O-08	10929313	89403664	13127728	60	38470											
CLCN7	1186	broad.mit.edu	37	16	1498451	1498451	+	Missense_Mutation	SNP	G	G	A			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr16:1498451G>A	ENST00000382745.4	-	21	2523	c.1918C>T	c.(1918-1920)Cgg>Tgg	p.R640W	CLCN7_ENST00000448525.1_Missense_Mutation_p.R616W|CLCN7_ENST00000262318.8_Missense_Mutation_p.R616W	NM_001287.5	NP_001278.1	P51798	CLCN7_HUMAN	chloride channel, voltage-sensitive 7	640	CBS 1.					integral to membrane|lysosomal membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity			breast(2)|central_nervous_system(3)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	24		Hepatocellular(780;0.0893)				TTCTCACGCCGCCTCAGGCAG	0.647													9	28					0	0	1	0	0	A	1498451	G	A	1498451	3	1	513	1	0	0	0	0	1	0	0	0	3491	1086	38	1	519	1	CLCN7	16	1498451	Missense_Mutation	SNP	G	TCGA-WY-A85E-01A-11D-A36O-08		1498451	88856302	61	38471											
ACSM5	54988	broad.mit.edu	37	16	20448432	20448432	+	Missense_Mutation	SNP	G	G	A			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr16:20448432G>A	ENST00000331849.4	+	11	1514	c.1367G>A	c.(1366-1368)cGa>cAa	p.R456Q		NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5	456					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding	p.R456Q(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						ACAGGGGACCGAGCTCGCATG	0.483													8	131					0	0	1	0	0	A	20448432	G	A	20448432	3	1	513	1	0	0	0	0	1	0	0	0	187	1058	37	1	1405	1	ACSM5	16	20448432	Missense_Mutation	SNP	G	TCGA-WY-A85E-01A-11D-A36O-08	18949981	20448432	69906321	62	38472											
DNAH3	55567	broad.mit.edu	37	16	21049090	21049090	+	Missense_Mutation	SNP	A	A	G			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr16:21049090A>G	ENST00000261383.3	-	34	4942	c.4943T>C	c.(4942-4944)cTg>cCg	p.L1648P	DNAH3_ENST00000415178.1_Missense_Mutation_p.L1648P	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1648					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TACCTGAAACAGAGGGACATC	0.498													4	20					0	0	1	0	0	G	21049090	A	G	21049090	3	3	513	1	0	0	0	0	1	0	0	0	4631	188	7	3	7522	3	DNAH3	16	21049090	Missense_Mutation	SNP	A	TCGA-WY-A85E-01A-11D-A36O-08	600658	21049090	69305663	63	38473											
MYLK3	91807	broad.mit.edu	37	16	46744669	46744669	+	Missense_Mutation	SNP	G	G	C			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr16:46744669G>C	ENST00000394809.4	-	11	2262	c.2147C>G	c.(2146-2148)aCa>aGa	p.T716R	MYLK3_ENST00000562104.1_5'UTR|MYLK3_ENST00000536476.1_Missense_Mutation_p.T375R	NM_182493.2	NP_872299.2	Q32MK0	MYLK3_HUMAN	myosin light chain kinase 3	716	Protein kinase.				cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis	cytosol	ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3)	37		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				CTCTGCATCTGTTTCCCCTAG	0.478													9	109					0	0	1	0	0	C	46744669	G	C	46744669	3	2	513	1	0	0	0	0	1	0	0	0	10106	1377	48	5	324	5	MYLK3	16	46744669	Missense_Mutation	SNP	G	TCGA-WY-A85E-01A-11D-A36O-08	25695579	46744669	43610084	64	38474											
CRISPLD2	83716	broad.mit.edu	37	16	84888389	84888389	+	Silent	SNP	C	C	T			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr16:84888389C>T	ENST00000262424.5	+	6	887	c.663C>T	c.(661-663)tgC>tgT	p.C221C	CRISPLD2_ENST00000566431.1_3'UTR|CRISPLD2_ENST00000564567.1_Silent_p.C221C|CRISPLD2_ENST00000567845.1_Silent_p.C221C	NM_031476.3	NP_113664.1	Q9H0B8	CRLD2_HUMAN	cysteine-rich secretory protein LCCL domain containing 2	221						extracellular region|transport vesicle				endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)	18						GCTCTGAGTGCCCACCCAGCT	0.532													4	143					0	0	1	0	0	T	84888389	C	T	84888389	2	4	513	1	0	0	0	0	0	0	0	1	3906	747	26	2		2	CRISPLD2	16	84888389	Silent	SNP	C	TCGA-WY-A85E-01A-11D-A36O-08	38143720	84888389	5466364	65	38475											
TP53	7157	broad.mit.edu	37	17	7578190	7578190	+	Missense_Mutation	SNP	T	T	C	rs121912666		TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr17:7578190T>C	ENST00000420246.2	-	6	791	c.659A>G	c.(658-660)tAt>tGt	p.Y220C	TP53_ENST00000269305.4_Missense_Mutation_p.Y220C|TP53_ENST00000574684.1_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.Y220C|TP53_ENST00000455263.2_Missense_Mutation_p.Y220C|TP53_ENST00000445888.2_Missense_Mutation_p.Y220C|TP53_ENST00000413465.2_Missense_Mutation_p.Y220C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	220	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 a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.Y220C(278)|p.Y127C(24)|p.Y220S(12)|p.?(11)|p.0?(8)|p.D208fs*1(1)|p.Y220_P223delYEPP(1)|p.V218_E224delVPYEPPE(1)|p.V218_E221delVPYE(1)|p.Y127S(1)|p.V218_Y220delVPY(1)|p.Y220fs*25(1)|p.V216_Y220delVVVPY(1)|p.Y220fs*2(1)|p.V218fs*26(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)		AGGCGGCTCATAGGGCACCAC	0.557		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			28	2					0	0	1	0	0	C	7578190	T	C	7578190	3	2	513	1	0	0	0	0	1	0	0	0	16442	1406	49	3	635	3	TP53	17	7578190	Missense_Mutation	SNP	T	TCGA-WY-A85E-01A-11D-A36O-08		7578190	73617020	66	38476											
WNT3	7473	broad.mit.edu	37	17	44851146	44851146	+	Silent	SNP	G	G	C			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr17:44851146G>C	ENST00000225512.5	-	2	372	c.210C>G	c.(208-210)gcC>gcG	p.A70A		NM_030753.4	NP_110380.1	P56703	WNT3_HUMAN	wingless-type MMTV integration site family, member 3	70					canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|cellular response to retinoic acid|dorsal/ventral axis specification|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic pattern specification|head morphogenesis|hemopoietic stem cell proliferation|inner ear morphogenesis|limb bud formation|mammary gland epithelium development|mesoderm formation|midbrain-hindbrain boundary development|negative regulation of fat cell differentiation|positive regulation of cell proliferation|Spemann organizer formation at the anterior end of the primitive streak|Wnt receptor signaling pathway, calcium modulating pathway	early endosome|extracellular space|late endosome|membrane fraction|membrane raft|plasma membrane|proteinaceous extracellular matrix	frizzled binding|frizzled-2 binding|signal transducer activity			endometrium(2)|large_intestine(6)|lung(4)|prostate(1)	13			BRCA - Breast invasive adenocarcinoma(9;0.0257)			TCACGCCCTCGGCCACGCTGG	0.652													7	60					0	0	1	0	0	C	44851146	G	C	44851146	2	2	513	1	0	0	0	0	0	0	0	1	17448	1103	39	5		5	WNT3	17	44851146	Silent	SNP	G	TCGA-WY-A85E-01A-11D-A36O-08	37272956	44851146	36344064	67	38477											
HSF5	124535	broad.mit.edu	37	17	56565486	56565486	+	Silent	SNP	C	C	A			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr17:56565486C>A	ENST00000323777.3	-	1	259	c.150G>T	c.(148-150)ctG>ctT	p.L50L		NM_001080439.1	NP_001073908.1	Q4G112	HSF5_HUMAN	heat shock transcription factor family member 5	50						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|skin(1)	16	Medulloblastoma(34;0.127)|all_neural(34;0.237)					gcgggcTGAGCAGCTCGGCCT	0.726													7	12					0.00307968	0.00328115	1	1	0	A	56565486	C	A	56565486	2	1	513	1	0	0	0	0	0	0	0	1	7440	697	25	5		5	HSF5	17	56565486	Silent	SNP	C	TCGA-WY-A85E-01A-11D-A36O-08	11714340	56565486	24629724	68	38478											
YPEL2	388403	broad.mit.edu	37	17	57465703	57465703	+	Nonsense_Mutation	SNP	C	C	T			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr17:57465703C>T	ENST00000312655.4	+	3	451	c.133C>T	c.(133-135)Caa>Taa	p.Q45*	YPEL2_ENST00000585166.1_Nonsense_Mutation_p.Q45*|YPEL2_ENST00000581865.1_3'UTR	NM_001005404.3	NP_001005404.1	Q96QA6	YPEL2_HUMAN	yippee-like 2 (Drosophila)	45						nucleolus				endometrium(1)|large_intestine(1)|lung(3)	5	all_neural(34;0.0837)|Medulloblastoma(34;0.0922)					CCAAGGAAGTCAAGGACGAGC	0.433													17	82					0	0	1	0	0	T	57465703	C	T	57465703	4	4	513	1	0	0	0	0	0	1	0	0	17550	827	29	2	139	2	YPEL2	17	57465703	Nonsense_Mutation	SNP	C	TCGA-WY-A85E-01A-11D-A36O-08	900217	57465703	23729507	69	38479											
RNF138	51444	broad.mit.edu	37	18	29691839	29691839	+	Missense_Mutation	SNP	T	T	C			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr18:29691839T>C	ENST00000261593.3	+	3	691	c.233T>C	c.(232-234)aTa>aCa	p.I78T	RNF138_ENST00000585103.1_Intron|RNF138_ENST00000257190.5_Intron	NM_001191324.1|NM_016271.4	NP_001178253.2|NP_057355.2	Q8WVD3	RN138_HUMAN	ring finger protein 138, E3 ubiquitin protein ligase	78					Wnt receptor signaling pathway	intracellular	ligase activity|protein kinase binding|zinc ion binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1)	12						CTTGAAAATATAATGAGGAAG	0.438													3	52					0	0	1	0	0	C	29691839	T	C	29691839	3	2	513	1	0	0	0	0	1	0	0	0	13493	1406	49	3	239	3	RNF138	18	29691839	Missense_Mutation	SNP	T	TCGA-WY-A85E-01A-11D-A36O-08		29691839	48385409	70	38480											
CXXC1	30827	broad.mit.edu	37	18	47812492	47812492	+	Missense_Mutation	SNP	C	C	T			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr18:47812492C>T	ENST00000285106.6	-	4	1073	c.359G>A	c.(358-360)cGc>cAc	p.R120H	CXXC1_ENST00000412036.2_Missense_Mutation_p.R120H|CXXC1_ENST00000589940.1_Missense_Mutation_p.R120H	NM_001101654.1|NM_014593.3	NP_001095124.1|NP_055408.2	Q9P0U4	CXXC1_HUMAN	CXXC finger protein 1	120					histone H3-K4 methylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck|Set1C/COMPASS complex	protein binding|unmethylated CpG binding|zinc ion binding			autonomic_ganglia(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	24						CCCTGCCCGGCGCTGCAGGTC	0.672													12	74					0	0	1	0	0	T	47812492	C	T	47812492	3	4	513	1	0	0	0	0	1	0	0	0	4120	768	27	1	1671	1	CXXC1	18	47812492	Missense_Mutation	SNP	C	TCGA-WY-A85E-01A-11D-A36O-08	18120653	47812492	30264756	71	38481											
MUC16	94025	broad.mit.edu	37	19	9066862	9066862	+	Missense_Mutation	SNP	T	T	G			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr19:9066862T>G	ENST00000397910.4	-	3	20787	c.20584A>C	c.(20584-20586)Agt>Cgt	p.S6862R		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6864	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGTGAGGTACTGCTCAAATTT	0.493													17	87					0	0	1	0	0	G	9066862	T	G	9066862	3	3	513	1	0	0	0	0	1	0	0	0	10021	1580	55	5	23267	5	MUC16	19	9066862	Missense_Mutation	SNP	T	TCGA-WY-A85E-01A-11D-A36O-08		9066862	50062121	72	38482											
CIB3	117286	broad.mit.edu	37	19	16284257	16284257	+	Silent	SNP	G	G	A	rs138083978	byFrequency	TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr19:16284257G>A	ENST00000269878.4	-	1	79	c.30C>T	c.(28-30)caC>caT	p.H10H	CIB3_ENST00000379859.3_Silent_p.H10H|CIB3_ENST00000541493.1_5'UTR	NM_054113.2	NP_473454.1	Q96Q77	CIB3_HUMAN	calcium and integrin binding family member 3	10							calcium ion binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	16						CCAGCTGCTCGTGTGTGAAGA	0.577													4	100					0	0	1	0	0	A	16284257	G	A	16284257	2	1	513	1	0	0	0	0	0	0	0	1	3444	1136	40	1		1	CIB3	19	16284257	Silent	SNP	G	TCGA-WY-A85E-01A-11D-A36O-08	7217395	16284257	42844726	73	38483											
GRAMD1A	57655	broad.mit.edu	37	19	35502430	35502430	+	Missense_Mutation	SNP	G	G	A			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr19:35502430G>A	ENST00000599564.1	+	8	910	c.839G>A	c.(838-840)cGc>cAc	p.R280H	GRAMD1A_ENST00000411896.2_Missense_Mutation_p.R186H|GRAMD1A_ENST00000504615.2_5'UTR|GRAMD1A_ENST00000317991.5_Missense_Mutation_p.R193H			Q96CP6	GRM1A_HUMAN	GRAM domain containing 1A	193						integral to membrane				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	19	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			CTCATCTTCCGCCTCTGGCAG	0.617													4	63					0	0	1	0	0	A	35502430	G	A	35502430	3	1	513	1	0	0	0	0	1	0	0	0	6788	1087	38	1	604	1	GRAMD1A	19	35502430	Missense_Mutation	SNP	G	TCGA-WY-A85E-01A-11D-A36O-08	19218173	35502430	23626553	74	38484											
SIRT2	22933	broad.mit.edu	37	19	39369942	39369942	+	Silent	SNP	C	C	T			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr19:39369942C>T	ENST00000249396.7	-	16	1324	c.1023G>A	c.(1021-1023)ctG>ctA	p.L341L	SIRT2_ENST00000358931.5_3'UTR|SIRT2_ENST00000392081.2_Silent_p.L304L	NM_012237.3	NP_036369.2	Q8IXJ6	SIRT2_HUMAN	sirtuin 2	341					cell division|chromatin silencing at rDNA|chromatin silencing at telomere|mitosis|negative regulation of striated muscle tissue development|protein ADP-ribosylation|regulation of exit from mitosis|regulation of phosphorylation|response to redox state	chromatin silencing complex|cytoplasm|microtubule	histone acetyltransferase binding|histone deacetylase binding|NAD+ binding|NAD-dependent histone deacetylase activity|transcription factor binding|tubulin deacetylase activity|ubiquitin binding|zinc ion binding			endometrium(1)|large_intestine(2)|lung(5)|skin(1)	9	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		Lung(45;0.00125)|LUSC - Lung squamous cell carcinoma(53;0.00191)			CAAGGTCCTCCAGCTCCTTCT	0.637													3	20					0	0	1	0	0	T	39369942	C	T	39369942	2	4	513	1	0	0	0	0	0	0	0	1	14393	581	21	2		2	SIRT2	19	39369942	Silent	SNP	C	TCGA-WY-A85E-01A-11D-A36O-08	3867512	39369942	19759041	75	38485											
ZNF780B	163131	broad.mit.edu	37	19	40541025	40541025	+	Missense_Mutation	SNP	C	C	T			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr19:40541025C>T	ENST00000434248.1	-	5	1806	c.1741G>A	c.(1741-1743)Gga>Aga	p.G581R	ZNF780B_ENST00000221355.6_Missense_Mutation_p.G433R	NM_001005851.2	NP_001005851.1	Q9Y6R6	Z780B_HUMAN	zinc finger protein 780B	581					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G581R(1)		endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					GGTTTCTTTCCGGTATGAATA	0.388													4	144					0	0	1	0	0	T	40541025	C	T	40541025	3	4	513	1	0	0	0	0	1	0	0	0	18202	661	23	1	764	1	ZNF780B	19	40541025	Missense_Mutation	SNP	C	TCGA-WY-A85E-01A-11D-A36O-08	1171083	40541025	18587958	76	38486											
PSG1	5669	broad.mit.edu	37	19	43382064	43382064	+	Splice_Site	SNP	C	C	T			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr19:43382064C>T	ENST00000244296.2	-	2	568		c.e2+1		PSG1_ENST00000436291.2_Splice_Site|PSG1_ENST00000601073.1_Splice_Site|PSG1_ENST00000595356.1_Splice_Site|PSG1_ENST00000312439.6_Splice_Site|PSG1_ENST00000403380.3_Splice_Site|PSG1_ENST00000595124.1_Splice_Site	NM_006905.2	NP_008836.2			pregnancy specific beta-1-glycoprotein 1											breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30		Prostate(69;0.00682)				GAATCACTTACGGTGTAAGGT	0.517													5	246					0	0	1	0	0	T	43382064	C	T	43382064	5	4	513	1	0	0	0	0	0	0	1	0	12702	550	19	1	901	1	PSG1	19	43382064	Splice_Site	SNP	C	TCGA-WY-A85E-01A-11D-A36O-08	2841039	43382064	15746919	77	38487											
SIGLEC5	8778	broad.mit.edu	37	19	52129289	52129289	+	Missense_Mutation	SNP	G	G	A			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr19:52129289G>A	ENST00000222107.4	-	8	1598	c.1460C>T	c.(1459-1461)aCc>aTc	p.T487I	SIGLEC5_ENST00000534261.2_Missense_Mutation_p.T487I|SIGLEC5_ENST00000429354.3_Missense_Mutation_p.T487I|SIGLEC5_ENST00000599649.1_Missense_Mutation_p.T487I|SIGLEC5_ENST00000570106.2_Missense_Mutation_p.T487I			O15389	SIGL5_HUMAN	sialic acid binding Ig-like lectin 5	487					cell adhesion	integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(9)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		all_neural(266;0.0726)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218)		ACTCACCGAGGTGATGGTACC	0.522													12	43					0	0	1	0	0	A	52129289	G	A	52129289	3	1	513	1	0	0	0	0	1	0	0	0	14366	1261	44	2	203	2	SIGLEC5	19	52129289	Missense_Mutation	SNP	G	TCGA-WY-A85E-01A-11D-A36O-08	8747225	52129289	6999694	78	38488											
BAGE2	85319	broad.mit.edu	37	21	11039316	11039316	+	RNA	SNP	C	C	A			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr21:11039316C>A	ENST00000470054.1	-	0	887									B melanoma antigen family, member 2															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)		TTTTCTGTCACTTCCATTTTA	0.378													7	330					2.74318e-10	3.12722e-10	1	1	0	A	11039316	C	A	11039316	1	1	513	0	1	0	0	0	0	0	0	0	1290	580	20	4		4	BAGE2	21	11039316	RNA	SNP	C	TCGA-WY-A85E-01A-11D-A36O-08		11039316	37090579	79	38489											
BAGE2	85319	broad.mit.edu	37	21	11058311	11058311	+	RNA	DEL	A	A	-			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr21:11058311delA	ENST00000470054.1	-	0	336									B melanoma antigen family, member 2															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)		AAGTGCTTACAAAATGCACAT	0.388													7	247	---	---	---	---						-	11058311	A	-	11058311	6	5	513	0	1	1	0	1	0	0	0	0	1290	127	5	0		0	BAGE2	21	11058311	RNA	DEL	A	TCGA-WY-A85E-01A-11D-A36O-08	18995	11058311	37071584	80	38490											
IQSEC2	23096	broad.mit.edu	37	X	53277942	53277942	+	Missense_Mutation	SNP	A	A	G			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chrX:53277942A>G	ENST00000396435.3	-	6	2620	c.2420T>C	c.(2419-2421)cTa>cCa	p.L807P	IQSEC2_ENST00000375365.2_Missense_Mutation_p.L602P|IQSEC2_ENST00000375368.5_Missense_Mutation_p.L797P	NM_001111125.2	NP_001104595.1	Q5JU85	IQEC2_HUMAN	IQ motif and Sec7 domain 2	797	SEC7.				regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(4)|skin(1)	29						CCGGTTCCCTAGGAATTCCCC	0.592													23	39					0	0	1	0	0	G	53277942	A	G	53277942	3	3	513	1	0	0	0	0	1	0	0	0	7862	420	15	3	2086	3	IQSEC2	23	53277942	Missense_Mutation	SNP	A	TCGA-WY-A85E-01A-11D-A36O-08		53277942	101992618	81	38491											
ATRX	546	broad.mit.edu	37	X	76938297	76938297	+	Nonsense_Mutation	SNP	A	A	T			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chrX:76938297A>T	ENST00000373344.5	-	9	2665	c.2451T>A	c.(2449-2451)taT>taA	p.Y817*	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Nonsense_Mutation_p.Y779*	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	817					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)	attctgagtcataattagaag	0.343			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						77	110					0	0	1	0	0	T	76938297	A	T	76938297	4	4	513	1	0	0	0	0	0	1	0	0	1206	224	8	4	5135	4	ATRX	23	76938297	Nonsense_Mutation	SNP	A	TCGA-WY-A85E-01A-11D-A36O-08	23660355	76938297	78332263	82	38492											
MORC4	79710	broad.mit.edu	37	X	106185255	106185255	+	Missense_Mutation	SNP	T	T	A			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chrX:106185255T>A	ENST00000355610.4	-	16	2847	c.2573A>T	c.(2572-2574)gAg>gTg	p.E858V	MORC4_ENST00000535534.1_Missense_Mutation_p.E606V|MORC4_ENST00000255495.7_Missense_Mutation_p.E858V	NM_001085354.2|NM_024657.4	NP_001078823.1|NP_078933.3	Q8TE76	MORC4_HUMAN	MORC family CW-type zinc finger 4	858							ATP binding|zinc ion binding			endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	28						CTTCAGTTTCTCTTTTAACTC	0.458													9	73					0	0	1	0	0	A	106185255	T	A	106185255	3	1	513	1	0	0	0	0	1	0	0	0	9753	1551	54	5	248	5	MORC4	23	106185255	Missense_Mutation	SNP	T	TCGA-WY-A85E-01A-11D-A36O-08	29246958	106185255	49085305	83	38493											
KIAA1210	57481	broad.mit.edu	37	X	118223155	118223155	+	Missense_Mutation	SNP	G	G	T			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chrX:118223155G>T	ENST00000402510.2	-	11	2037	c.2038C>A	c.(2038-2040)Caa>Aaa	p.Q680K		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	680										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						GCCTCCTCTTGGGTTGTAGAA	0.453													5	26					3.59834e-05	3.90676e-05	1	1	0	T	118223155	G	T	118223155	3	4	513	1	0	0	0	0	1	0	0	0	8256	1357	47	5	3107	5	KIAA1210	23	118223155	Missense_Mutation	SNP	G	TCGA-WY-A85E-01A-11D-A36O-08	12037900	118223155	37047405	84	38494											
DCAF12L2	340578	broad.mit.edu	37	X	125299773	125299773	+	Silent	SNP	C	C	T			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chrX:125299773C>T	ENST00000538699.1	-	2	215	c.135G>A	c.(133-135)ccG>ccA	p.P45P	DCAF12L2_ENST00000360028.2_Silent_p.P45P	NM_001013628.2	NP_001013650.1	Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	45										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						GACGCGTCGCCGGCCGCTTCT	0.731													13	24					0	0	1	0	0	T	125299773	C	T	125299773	2	4	513	1	0	0	0	0	0	0	0	1	4289	639	23	1		1	DCAF12L2	23	125299773	Silent	SNP	C	TCGA-WY-A85E-01A-11D-A36O-08	7076618	125299773	29970787	85	38495											
